format-version: 1.2
data-version: releases/2020-09-09/reasoned.owl.owl
subsetdef: clingen "initial subset used by clingen"
subsetdef: do_inheritance_inconsistent "classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406"
subsetdef: gard_rare "GARD rare disease subset"
subsetdef: historic_epidemic "classes representing a historic epidemic"
subsetdef: implicit_genetic_in_ordo "in ORDO this is classified as genetic even though the class is used for non-genetic disorders"
subsetdef: merged_class "this class merges distinct concepts in other resources"
subsetdef: metaclass "A grouping of disease classes. Should be excluded from analysis"
subsetdef: mostly_harmless "condition has no severe phenotypes and is harmless or mostly harmless"
subsetdef: n_of_one "N of one"
subsetdef: not_a_disease "classes that do not represent diseases"
subsetdef: obsoletion_candidate "obsoletion candidate"
subsetdef: ordo_biological_anomaly "biological anomaly"
subsetdef: ordo_clinical_situation "particular clinical situation in a disease or syndrome"
subsetdef: ordo_clinical_subtype "clinical subtype"
subsetdef: ordo_clinical_syndrome "clinical syndrome"
subsetdef: ordo_disease "disease"
subsetdef: ordo_etiological_subtype "etiological subtype"
subsetdef: ordo_group_of_disorders "group of disorders"
subsetdef: ordo_histopathological_subtype "histopathological subtype"
subsetdef: ordo_inheritance_inconsistent "classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406"
subsetdef: ordo_malformation_syndrome "malformation syndrome"
subsetdef: ordo_morphological_anomaly "morphological anomaly"
subsetdef: other_hierarchy "A bin for classes that are likely not diseases and may be moved to a separate hierarchy"
subsetdef: predisposition "Diseases that are pre-dispositions to other diseases"
subsetdef: prototype_pattern "Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149"
subsetdef: speculative "A hypothesized disease whose existence is speculative"
synonymtypedef: ABBREVIATION "abbreviation"
synonymtypedef: AMBIGUOUS "ambiguous"
synonymtypedef: DEPRECATED "A synonym that is historic and discouraged"
synonymtypedef: DUBIOUS "dubious synonym"
synonymtypedef: EXCLUDE "Synonym to be removed from public release but maintained in edit version as record of external usage"
synonymtypedef: MISSPELLING "A synonym that is recorded for consistency with another source but is a misspelling"
remark: Includes Ontology(OntologyID(Anonymous-33)) [Axioms: 7236 Logical Axioms: 0]
remark: Includes Ontology(OntologyID(Anonymous-33)) [Axioms: 87081 Logical Axioms: 0]
ontology: mondo
property_value: http://purl.org/dc/elements/1.1/title "Mondo Disease Ontology" xsd:string
property_value: http://purl.org/dc/terms/description "A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology." xsd:string
property_value: http://purl.org/dc/terms/license http://creativecommons.org/licenses/by/4.0/
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/chebi.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/doid.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/envo.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/go.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/hp.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/mf.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/ncbitaxon.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/ncit.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/uberon.owl
property_value: http://purl.org/dc/terms/source http://www.orpha.net/ontology/orphanet.owl
property_value: http://purl.org/dc/terms/source https://id.nlm.nih.gov/mesh/
property_value: http://purl.org/dc/terms/source https://rarediseases.info.nih.gov/
property_value: http://xmlns.com/foaf/0.1/homepage http://obofoundry.org/ontology/mondo.html xsd:anyURI

[Term]
id: MONDO:0000001
name: disease or disorder
def: "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." [OGMS:0000031]
synonym: "condition" EXACT [NCIT:C2991]
synonym: "disease" EXACT [NCIT:C2991]
synonym: "disease or disorder" EXACT [NCIT:C2991]
synonym: "disease or disorder, non-neoplastic" EXACT [NCIT:C2991]
synonym: "diseases" EXACT [NCIT:C2991]
synonym: "diseases and disorders" EXACT [NCIT:C2991]
synonym: "disorder" EXACT [NCIT:C2991]
synonym: "disorders" EXACT [NCIT:C2991]
synonym: "medical condition" EXACT []
synonym: "other disease" EXACT [NCIT:C2991]
xref: DOID:4 {source="MONDO:equivalentTo", source="EFO:0000408"}
xref: EFO:0000408 {source="MONDO:equivalentTo"}
xref: ICD10:N18 {source="MONDO:equivalentTo"}
xref: ICD9:799.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004194 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4", source="EFO:0000408"}
xref: NCIT:C2991 {source="MONDO:equivalentTo", source="DOID:4"}
xref: OGMS:0000031 {source="MONDO:equivalentTo"}
xref: Orphanet:377788 {source="MONDO:equivalentTo"}
xref: SCTID:64572001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.81/0.56/0.38", source="DOID:4", source="EFO:0000408"}
xref: UMLS:C0012634 {source="MONDO:equivalentTo", source="NCIT:C2991", source="DOID:4"}
property_value: exactMatch DOID:4
property_value: exactMatch http://identifiers.org/mesh/D004194
property_value: exactMatch http://identifiers.org/snomedct/64572001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012634
property_value: exactMatch NCIT:C2991
property_value: exactMatch Orphanet:377788

[Term]
id: MONDO:0000002
name: obsolete 46,XX sex reversal
is_obsolete: true
replaced_by: MONDO:0009299

[Term]
id: MONDO:0000003
name: obsolete 17-hydroxysteroid dehydrogenase deficiency
xref: DC:0000002 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000004
name: adrenocortical insufficiency
def: "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." [NCIT:C26691]
synonym: "adrenal cortical hypofunction" EXACT [DOID:10493, NCIT:C26691]
synonym: "adrenal cortical insufficiency" EXACT [DOID:10493, NCIT:C26691, NCIT:C27150]
synonym: "adrenal gland insufficiency" EXACT [NCIT:C26691]
synonym: "adrenal insufficiency" EXACT [NCIT:C26691]
synonym: "adrenocortical insufficiency" EXACT [NCIT:C26691]
synonym: "corticoadrenal insufficiency" EXACT [DOID:10493]
synonym: "hypocortisolemia" EXACT [NCIT:C26691]
synonym: "hypocortisolism" EXACT [NCIT:C26691]
xref: DC:0000011 {source="MONDO:equivalentTo"}
xref: DOID:10493 {source="MONDO:equivalentTo"}
xref: GARD:0006722 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:255.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:10493"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000309 {source="MONDO:equivalentTo"}
xref: NCIT:C26691 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10493"}
xref: SCTID:386584007 {source="MONDO:equivalentTo", source="DOID:10493", source="MONDO:kboom-pr-1.00/0.74/6.33"}
xref: UMLS:C0405580 {source="MONDO:equivalentTo", source="DOID:10493"}
is_a: MONDO:0002816 {source="DOID:10493", source="MONDO:Inferred", source="linkedlifedata"} ! adrenal cortex disease
property_value: closeMatch http://identifiers.org/snomedct/154707007
property_value: closeMatch http://identifiers.org/snomedct/190527008
property_value: closeMatch http://identifiers.org/snomedct/267398003
property_value: closeMatch http://identifiers.org/snomedct/267483004
property_value: closeMatch http://identifiers.org/snomedct/68588005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001623
property_value: exactMatch DOID:10493
property_value: exactMatch http://identifiers.org/mesh/D000309
property_value: exactMatch http://identifiers.org/snomedct/386584007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0405580
property_value: exactMatch NCIT:C26691
property_value: related "hypoadrenalism" xsd:string {xref="GARD:0006722"}

[Term]
id: MONDO:0000005
name: alopecia, isolated
xref: DC:0000016 {source="MONDO:equivalentTo"}
xref: OMIMPS:203655 {source="MONDO:equivalentTo", source="DC:0000016"}
is_a: MONDO:0004907 {source="DC:0000016"} ! alopecia

[Term]
id: MONDO:0000006
name: obsolete alopecia-mental retardation syndrome
xref: DC:0000017
is_obsolete: true

[Term]
id: MONDO:0000007
name: obsolete atypical Mycobacteriosis, familial
comment: OMIM 209950 lists 300636 and 300645 as other types of this disease. {source="DC:0000046"}
xref: DC:0000046
is_obsolete: true

[Term]
id: MONDO:0000008
name: obsolete bare lymphocyte syndrome
is_obsolete: true

[Term]
id: MONDO:0000009
name: inherited bleeding disorder, platelet-type
synonym: "bleeding disorder, platelet-type" EXACT [OMIMPS:231200]
synonym: "blood platelet disease" BROAD [DOID:2218]
synonym: "platelet disorder" BROAD [CSP2005:0446-1413, DOID:2218]
synonym: "thrombocytopathy" RELATED [DOID:2218, MTHICD9_2006:287.1]
xref: DC:0000057 {source="MONDO:equivalentTo"}
xref: DOID:2218 {source="MONDO:equivalentTo"}
xref: OMIMPS:231200 {source="MONDO:equivalentTo", source="DC:0000057"}
xref: UMLS:C0005818 {source="MONDO:equivalentTo", source="DOID:2218"}
is_a: MONDO:0002243 {source="DOID:2218", source="MONDO:Redundant", source="MONDO:cjm"} ! hemorrhagic disease
is_a: MONDO:0002245 {source="DC:0000057", source="MONDO:Entailed", source="MONDO:Redundant"} ! blood platelet disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch DOID:2218
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005818

[Term]
id: MONDO:0000010
name: obsolete cerebrooculofacioskeletal syndrome
is_obsolete: true
replaced_by: MONDO:0008926

[Term]
id: MONDO:0000011
name: obsolete chondrodysplasia
xref: DC:0000080 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000012
name: obsolete choreoathetosis (disease)
xref: DC:0000083
is_obsolete: true

[Term]
id: MONDO:0000013
name: obsolete choroidal dystrophy
is_obsolete: true
replaced_by: MONDO:0008982

[Term]
id: MONDO:0000014
name: colorblindness, partial
xref: DC:0000090 {source="MONDO:equivalentTo"}
is_a: MONDO:0001703 {source="DC:0000090"} ! color vision disorder

[Term]
id: MONDO:0000015
name: classic complement early component deficiency
def: "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." [https://orcid.org/0000-0001-5208-3432, PMID:22773339]
subset: gard_rare {source="GARD:0009526"}
synonym: "genetic deficiency of early component of the classical complement pathway" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: DC:0000094 {source="MONDO:equivalentTo"}
xref: GARD:0009526 {source="MONDO:equivalentTo"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:363009005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1285186 {source="GARD:0009526", source="MONDO:equivalentTo"}
is_a: MONDO:0003832 {source="DC:0000094"} ! complement deficiency
property_value: exactMatch http://identifiers.org/snomedct/363009005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285186
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency xsd:anyURI {source="GARD:0009526"}

[Term]
id: MONDO:0000016
name: obsolete coronary heart disease
is_obsolete: true
replaced_by: MONDO:0005010

[Term]
id: MONDO:0000017
name: obsolete deafness, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0011791

[Term]
id: MONDO:0000018
name: obsolete myotonic dystrophy
is_obsolete: true
replaced_by: MONDO:0016107

[Term]
id: MONDO:0000019
name: obsolete ectodermal dysplasia
xref: DC:0000128
is_obsolete: true
replaced_by: MONDO:0019287

[Term]
id: MONDO:0000020
name: obsolete elliptocytosis
is_obsolete: true
replaced_by: MONDO:0017319

[Term]
id: MONDO:0000021
name: obsolete short-rib thoracic dysplasia
xref: DC:0000131 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0018770

[Term]
id: MONDO:0000022
name: nocturnal enuresis
def: "Urination during sleep." [NCIT:C118172]
comment: See genetic heterogeneity of OMIM 600631. {source="DC:0000133"}
synonym: "bedwetting" EXACT []
synonym: "enuresis, nocturnal" EXACT []
synonym: "sleep enuresis" EXACT [NCIT:C118172]
xref: COHD:193874 {source="MONDO:equivalentTo"}
xref: DC:0000133 {source="MONDO:equivalentTo"}
xref: MESH:D053206 {source="MONDO:equivalentTo"}
xref: NCIT:C118172 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.93"}
is_a: MONDO:0024290 {source="NCIT:C118172"} ! enuresis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270327
property_value: exactMatch http://identifiers.org/mesh/D053206
property_value: exactMatch NCIT:C118172

[Term]
id: MONDO:0000023
name: infantile liver failure
comment: OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). {source="DC:0000134"}
synonym: "infantile liver failure syndrome" EXACT [OMIMPS:615438]
synonym: "liver failure, infantile" EXACT [OMIMPS:615438]
xref: DC:0000134 {source="MONDO:equivalentTo"}
xref: OMIMPS:615438 {source="MONDO:equivalentTo", source="DC:0000134"}
xref: UMLS:CN228161 {source="MONDO:equivalentTo"}
is_a: MONDO:0015508 {source="MONDO:cjm"} ! genetic parenchymatous liver disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228161

[Term]
id: MONDO:0000024
name: obsolete exostoses, multiple
is_obsolete: true
replaced_by: MONDO:0005508

[Term]
id: MONDO:0000025
name: obsolete familial cold autoinflammatory syndrome
is_obsolete: true
replaced_by: MONDO:0018768

[Term]
id: MONDO:0000026
name: obsolete Fanconi renotubular syndrome
is_obsolete: true
replaced_by: MONDO:0001083

[Term]
id: MONDO:0000027
name: obsolete epilepsy, absence
is_obsolete: true

[Term]
id: MONDO:0000028
name: obsolete epilepsy, hot water
is_obsolete: true
replaced_by: MONDO:0013229

[Term]
id: MONDO:0000029
name: obsolete corticosterone methyloxidase deficiency
is_obsolete: true

[Term]
id: MONDO:0000030
name: epilepsy, nocturnal frontal lobe
xref: DC:0000154 {source="MONDO:equivalentTo"}
xref: OMIMPS:600513 {source="DC:0000154", source="MONDO:equivalentTo"}
is_a: MONDO:0002612 {source="DC:0000154"} ! frontal lobe epilepsy

[Term]
id: MONDO:0000031
name: obsolete fatty liver disease, nonalcoholic
is_obsolete: true
replaced_by: MONDO:0013209

[Term]
id: MONDO:0000032
name: febrile seizures, familial
synonym: "seizures, familial febrile" EXACT [OMIMPS:121210]
xref: DC:0000159 {source="MONDO:equivalentTo"}
xref: OMIMPS:121210 {source="MONDO:equivalentTo", source="DC:0000159"}
is_a: MONDO:0003847 {source="MONDO:cjm"} ! Mendelian disease

[Term]
id: MONDO:0000033
name: obsolete frontonasal dysplasia
is_obsolete: true
replaced_by: MONDO:0016643

[Term]
id: MONDO:0000034
name: obsolete glomerulopathy with fibronectin deposits
is_obsolete: true

[Term]
id: MONDO:0000035
name: obsolete glucocorticoid deficiency
is_obsolete: true

[Term]
id: MONDO:0000036
name: obsolete hemolytic anemia, nonspherocytic
is_obsolete: true

[Term]
id: MONDO:0000037
name: obsolete herpes simplex encephalitis, susceptibility
subset: predisposition
is_obsolete: true

[Term]
id: MONDO:0000038
name: obsolete hyper-IgE recurrent infection syndrome
comment: See text of OMIM 147060. {source="DC:0000192"}
xref: DC:0000192 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0018037

[Term]
id: MONDO:0000039
name: obsolete hypercalciuria, absorptive
is_obsolete: true

[Term]
id: MONDO:0000040
name: obsolete hyperphenylalaninemia, BH4-deficient
is_obsolete: true
replaced_by: MONDO:0016543

[Term]
id: MONDO:0000041
name: obsolete hyperphosphatasia with mental retardation syndrome
xref: DC:0000203 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0016596

[Term]
id: MONDO:0000042
name: obsolete hyperprolinemia
is_obsolete: true

[Term]
id: MONDO:0000043
name: obsolete hypomagnesemia
xref: DC:0000212 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0018100

[Term]
id: MONDO:0000044
name: hereditary hypophosphatemic rickets
def: "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." [Orphanet:437]
subset: gard_rare {source="GARD:0006735"}
subset: ordo_group_of_disorders {source="Orphanet:437"}
synonym: "hereditary hypophosphatemic rickets" EXACT [MONDO:patterns/hereditary]
xref: DC:0000215 {source="MONDO:equivalentTo"}
xref: GARD:0006735 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="Orphanet:437", source="ORDO:437/inclusion", source="ORDO:437/ntbt"}
xref: MedDRA:10060873 {source="ORDO:437/e", source="Orphanet:437"}
xref: OMIMPS:193100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:437 {source="MONDO:equivalentTo"}
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024300 ! hypophosphatemic rickets
intersection_of: MONDO:0024300 ! hypophosphatemic rickets
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2363065
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3536983
property_value: exactMatch http://identifiers.org/meddra/10060873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704375
property_value: exactMatch Orphanet:437
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets xsd:anyURI {source="GARD:0006735"}

[Term]
id: MONDO:0000045
name: hypothyroidism, congenital, nongoitrous
xref: DC:0000217 {source="MONDO:equivalentTo"}
xref: OMIMPS:275200 {source="MONDO:equivalentTo", source="DC:0000217"}
is_a: MONDO:0018612 {source="DC:0000217"} ! congenital hypothyroidism

[Term]
id: MONDO:0000046
name: obsolete hypouricemia, renal
comment: See text of OMIM 220150, does not include 307830. {source="DC:0000219"}
xref: DC:0000219
is_obsolete: true

[Term]
id: MONDO:0000047
name: obsolete immunodeficiency with hyper-IgM
is_obsolete: true
replaced_by: MONDO:0003947

[Term]
id: MONDO:0000048
name: obsolete immunoglobulin A deficiency
is_obsolete: true
replaced_by: MONDO:0001341

[Term]
id: MONDO:0000049
name: invasive pneumococcal disease, recurrent isolated
xref: DC:0000227 {source="MONDO:equivalentTo"}
xref: OMIMPS:610799 {source="MONDO:equivalentTo", source="DC:0000227"}
xref: UMLS:CN228622 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228622

[Term]
id: MONDO:0000050
name: isolated congenital growth hormone deficiency
subset: ordo_disease {source="Orphanet:631"}
synonym: "congenital IGHD" EXACT [DOID:0060870, Orphanet:631]
synonym: "congenital isolated GH deficiency" EXACT [DOID:0060870, Orphanet:631]
synonym: "congenital isolated growth hormone deficiency" EXACT [DOID:0060870, Orphanet:631]
synonym: "familial isolated growth hormone deficiency" EXACT [DOID:0060870]
synonym: "ICGHD" EXACT [MONDO:cjm]
synonym: "IGHD" EXACT [DOID:0060870]
synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400]
synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870]
xref: DC:0000229 {source="MONDO:equivalentTo"}
xref: DOID:0060870 {source="MONDO:equivalentTo"}
xref: GARD:0012556 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="Orphanet:631", source="DOID:0060870", source="ORDO:631/inclusion", source="ORDO:631/ntbt"}
xref: MedDRA:10035083 {source="Orphanet:631", source="ORDO:631/e"}
xref: OMIMPS:262400 {source="MONDO:equivalentTo"}
xref: Orphanet:631 {source="DOID:0060870", source="MONDO:equivalentTo"}
xref: SCTID:2109003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.54"}
is_a: MONDO:0005152 {source="DOID:0060870", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypopituitarism
is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:631"} ! non-acquired pituitary hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271561
property_value: exactMatch DOID:0060870
property_value: exactMatch http://identifiers.org/meddra/10035083
property_value: exactMatch http://identifiers.org/snomedct/2109003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013338
property_value: exactMatch Orphanet:631

[Term]
id: MONDO:0000051
name: obsolete keratoderma, palmoplantar striate
comment: See genetic heterogeneity of OMIM 148700. {source="DC:0000234"}
xref: DC:0000234 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000052
name: obsolete leukodystrophy, hypomyelinating
is_obsolete: true

[Term]
id: MONDO:0000053
name: obsolete macroglobulinemia, Waldenstrom
is_obsolete: true

[Term]
id: MONDO:0000054
name: obsolete macular dystrophy (disease)
is_obsolete: true
consider: MONDO:0020242

[Term]
id: MONDO:0000055
name: obsolete major affective disorder
is_obsolete: true
replaced_by: MONDO:0004985

[Term]
id: MONDO:0000056
name: obsolete mandibuloacral dysplasia with lipodystrophy
is_obsolete: true
replaced_by: MONDO:0016584

[Term]
id: MONDO:0000057
name: obsolete medullary cystic kidney disease
is_obsolete: true

[Term]
id: MONDO:0000058
name: obsolete melanoma, cutaneous malignant
xref: DC:0000271 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0024462

[Term]
id: MONDO:0000059
name: obsolete methylmalonic aciduria and homocystinuria
is_obsolete: true
replaced_by: MONDO:0016826

[Term]
id: MONDO:0000060
name: microcephalic osteodysplastic primordial dwarfism
xref: DC:0000276 {source="MONDO:equivalentTo"}
xref: UMLS:CN239360 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001149 {source="DC:0000276"} ! microcephaly (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239360

[Term]
id: MONDO:0000061
name: obsolete microcephaly, primary, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0016660

[Term]
id: MONDO:0000062
name: isolated microphthalmia
def: "A microphthalmia that is not part of a larger syndrome." [MONDO:patterns/isolated]
synonym: "microphthalmia, isolated" EXACT [OMIMPS:251600]
synonym: "nonsyndromic microphthalmia" EXACT [MONDO:patterns/isolated]
xref: DC:0000278 {source="MONDO:equivalentTo"}
xref: OMIMPS:251600 {source="DC:0000278", source="MONDO:equivalentTo"}
is_a: MONDO:0021129 {source="MONDO:Redundant", source="MONDO:cjm"} ! microphthalmia
intersection_of: MONDO:0021129 ! microphthalmia
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0000063
name: obsolete molybdenum cofactor deficiency (disease)
synonym: "molybdenum cofactor deficiency" EXACT [MONDO:ambiguous]
xref: DC:0000279 {source="MONDO:obsoleteEquivalent"}
xref: HP:0003570 {source="MONDO:otherHierarchy", source="ontobio"}
is_obsolete: true
replaced_by: MONDO:0020480

[Term]
id: MONDO:0000064
name: obsolete syndromic microphthalmia
is_obsolete: true
replaced_by: MONDO:0016073

[Term]
id: MONDO:0000065
name: microvascular complications of diabetes, susceptibility
comment: Editor note: relationship to diabetic angiopathy
subset: predisposition
synonym: "microvascular complications of diabetes" EXACT [OMIMPS:603933]
xref: DC:0000281 {source="MONDO:equivalentTo"}
xref: OMIMPS:603933 {source="MONDO:equivalentTo", source="DC:0000281"}
xref: UMLS:CN357508 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005266 ! diabetic retinopathy
relationship: predisposes_towards MONDO:0005266 ! diabetic retinopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN357508

[Term]
id: MONDO:0000066
name: mitochondrial complex deficiency
xref: DC:0000283 {source="MONDO:equivalentTo"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder

[Term]
id: MONDO:0000067
name: obsolete mitochondrial DNA depletion syndrome
is_obsolete: true
replaced_by: MONDO:0018158

[Term]
id: MONDO:0000068
name: obsolete mucolipidosis
is_obsolete: true
replaced_by: MONDO:0019248

[Term]
id: MONDO:0000069
name: obsolete multiple endocrine neoplasia
is_obsolete: true
replaced_by: MONDO:0017169

[Term]
id: MONDO:0000070
name: mycobacterium tuberculosis, susceptibility
subset: predisposition
xref: DC:0000298 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0018076 ! tuberculosis
relationship: predisposes_towards MONDO:0018076 ! tuberculosis

[Term]
id: MONDO:0000071
name: obsolete myopathy, myofibrillar
xref: DC:0000305 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0018943
consider: OMIMPS:601419 {source="MONDO:equivalentTo", source="DC:0000305"}

[Term]
id: MONDO:0000072
name: obsolete myopathy, reducing body, X-linked
is_obsolete: true

[Term]
id: MONDO:0000073
name: obsolete nail disorder, nonsyndromic congenital
is_obsolete: true
replaced_by: MONDO:0019284

[Term]
id: MONDO:0000074
name: obsolete neurodegeneration with brain iron accumulation
is_obsolete: true
replaced_by: MONDO:0018307

[Term]
id: MONDO:0000075
name: neuronopathy, distal hereditary motor
comment: See genetic heterogeneity of OMIM 182960. {source="DC:0000322"}
xref: DC:0000322 {source="MONDO:equivalentTo"}
is_a: MONDO:0020128 {source="DC:0000322"} ! motor neuron disease

[Term]
id: MONDO:0000076
name: obsolete neuropathy, hereditary sensory and autonomic
is_obsolete: true
consider: MONDO:0015364

[Term]
id: MONDO:0000077
name: obsolete nystagmus (disease)
is_obsolete: true
replaced_by: MONDO:0005712

[Term]
id: MONDO:0000078
name: acrocephalopolysyndactyly
def: "A common presentation of craniosynostosis and polysyndactyly." [https://en.wikipedia.org/wiki/Acrocephalosyndactylia]
synonym: "ACPS" EXACT [https://en.wikipedia.org/wiki/Acrocephalosyndactylia]
xref: DC:0000331 {source="MONDO:equivalentTo"}
xref: SCTID:205260006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0687154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019796 {source="https://en.wikipedia.org/wiki/Acrocephalosyndactylia", source="linkedlifedata"} ! acrocephalosyndactyly
property_value: exactMatch http://identifiers.org/snomedct/205260006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687154

[Term]
id: MONDO:0000079
name: nephrolithiasis/osteoporosis, hypophosphatemic
xref: DC:0000341 {source="MONDO:equivalentTo"}
xref: OMIMPS:612286 {source="DC:0000341", source="MONDO:equivalentTo"}
is_a: MONDO:0005298 {source="DC:0000341"} ! osteoporosis

[Term]
id: MONDO:0000080
name: obsolete Oto-palato-digital syndrome
comment: See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.". {source="DC:0000342"}
xref: DC:0000342 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0010704

[Term]
id: MONDO:0000081
name: obsolete ovarian dysgenesis
xref: DC:0000345 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0009299

[Term]
id: MONDO:0000082
name: pelvic organ prolapse
def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." [MESH:D056887]
comment: Text of OMIM 613088 points to OMIM 176780 for disease description. {source="DC:0000354"}
xref: DC:0000354 {source="MONDO:equivalentTo"}
xref: EFO:0004710 {source="MONDO:equivalentTo"}
xref: MESH:D056887 {source="EFO:0004710", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:237113009 {source="EFO:0004710", source="MONDO:equivalentTo"}
xref: UMLS:C0877015 {source="MONDO:equivalentTo"}
is_a: MONDO:0005039 {source="EFO:0004710", source="linkedlifedata/inferred"} ! reproductive system disease
property_value: exactMatch http://identifiers.org/mesh/D056887
property_value: exactMatch http://identifiers.org/snomedct/237113009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877015

[Term]
id: MONDO:0000083
name: obsolete Griscelli syndrome
is_obsolete: true
replaced_by: MONDO:0018306

[Term]
id: MONDO:0000084
name: obsolete pigmented nodular adrenocortical disease
is_obsolete: true
replaced_by: MONDO:0015999

[Term]
id: MONDO:0000085
name: obsolete pituitary hormone deficiency, combined
xref: DC:0000358 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: OMIMPS:613038 {source="MONDO:equivalentTo", source="DC:0000358"}

[Term]
id: MONDO:0000086
name: obsolete polydactyly, preaxial
is_obsolete: true
replaced_by: MONDO:0017425

[Term]
id: MONDO:0000087
name: polymicrogyria
def: "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." [NCIT:C116936]
subset: ordo_group_of_disorders {source="Orphanet:35981"}
xref: DC:0000363 {source="MONDO:equivalentTo"}
xref: GARD:0012271 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:35981/inclusion", source="ORDO:35981/ntbt", source="Orphanet:35981"}
xref: MESH:D065706 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116936 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:35981 {source="MONDO:equivalentTo"}
xref: SCTID:4945003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266464 {source="MONDO:equivalentTo", source="ORDO:35981/e", source="Orphanet:35981", source="NCIT:C116936"}
is_a: MONDO:0000508 {source="Orphanet:35981"} ! syndromic intellectual disability
is_a: MONDO:0015572 {source="Orphanet:35981"} ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch http://identifiers.org/mesh/D065706
property_value: exactMatch http://identifiers.org/snomedct/4945003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266464
property_value: exactMatch NCIT:C116936
property_value: exactMatch Orphanet:35981

[Term]
id: MONDO:0000088
name: precocious puberty
def: "Unusually early sexual maturity." [NCIT:C79704]
subset: gard_rare {source="GARD:0007446"}
subset: ordo_group_of_disorders {source="Orphanet:95708"}
synonym: "familial precocious puberty" NARROW [GARD:0007446]
synonym: "idiopathic sexual precocity" NARROW [GARD:0007446]
synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/]
xref: COHD:4267558 {source="MONDO:equivalentTo"}
xref: DC:0000367 {source="MONDO:equivalentTo"}
xref: GARD:0007446 {source="MONDO:equivalentTo"}
xref: HP:0000826
xref: ICD10:E22.8 {source="ORDO:95708/nd", source="Orphanet:95708"}
xref: ICD10:E30.1 {source="MONDO:equivalentTo", source="ORDO:95708/nd", source="Orphanet:95708"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044701 {source="ORDO:95708/e", source="Orphanet:95708"}
xref: MedDRA:10058084 {source="ORDO:95708/e", source="Orphanet:95708"}
xref: MESH:D011629 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:95708/e", source="Orphanet:95708"}
xref: NCIT:C79704 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: Orphanet:95708 {source="MONDO:equivalentTo"}
xref: SCTID:400179000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.22"}
xref: UMLS:C0034013 {source="MONDO:equivalentTo", source="ORDO:95708/e", source="Orphanet:95708"}
is_a: MONDO:0002259 {source="MESH:D011629"} ! gonadal disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019590 {source="Orphanet:95708"} ! rare endocrine growth disease
property_value: exactMatch http://identifiers.org/meddra/10044701
property_value: exactMatch http://identifiers.org/meddra/10058084
property_value: exactMatch http://identifiers.org/mesh/D011629
property_value: exactMatch http://identifiers.org/snomedct/400179000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034013
property_value: exactMatch NCIT:C79704
property_value: exactMatch Orphanet:95708
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty xsd:anyURI {source="GARD:0007446"}

[Term]
id: MONDO:0000089
name: obsolete age-related hearing impairment
is_obsolete: true
replaced_by: MONDO:0005562

[Term]
id: MONDO:0000090
name: progressive external ophthalmoplegia with mitochondrial DNA deletions
synonym: "progressive external ophthalmoplegia with mtDNA deletions" EXACT [OMIMPS:157640]
xref: DC:0000373 {source="MONDO:equivalentTo"}
xref: OMIMPS:157640 {source="DC:0000373", source="MONDO:equivalentTo"}
xref: UMLS:CN239267 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005181 {source="DC:0000373"} ! progressive external ophthalmoplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239267

[Term]
id: MONDO:0000091
name: obsolete progressive familial heart block
is_obsolete: true
replaced_by: MONDO:0019490

[Term]
id: MONDO:0000092
name: obsolete pyloric stenosis, infantile
is_obsolete: true
replaced_by: MONDO:0001560

[Term]
id: MONDO:0000093
name: Schistosoma mansoni infection, susceptibility
subset: predisposition
xref: DC:0000398 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: disease_has_feature MONDO:0044345 ! Schistosoma mansoni infectious disease

[Term]
id: MONDO:0000094
name: obsolete spherocytosis (disease)
synonym: "spherocytosis" EXACT [MONDO:ambiguous]
xref: DC:0000412 {source="MONDO:obsoleteEquivalent"}
xref: HP:0004444 {source="MONDO:otherHierarchy", source="ontobio"}
is_obsolete: true

[Term]
id: MONDO:0000095
name: obsolete split-hand/foot malformation
xref: DC:0000416 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0016576

[Term]
id: MONDO:0000096
name: obsolete pulmonary surfactant metabolism dysfunction
comment: OMIM series 265120. {source="DC:0000426"}
synonym: "SMDP" RELATED []
xref: DC:0000426 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0012580

[Term]
id: MONDO:0000097
name: obsolete thyroid dyshormonogenesis
is_obsolete: true

[Term]
id: MONDO:0000098
name: obsolete thyrotoxic periodic paralysis
is_obsolete: true
replaced_by: MONDO:0019201

[Term]
id: MONDO:0000099
name: obsolete trichoepithelioma, multiple familial
is_obsolete: true

[Term]
id: MONDO:0000100
name: obsolete trichorhinophalangeal syndrome
is_obsolete: true

[Term]
id: MONDO:0000101
name: obsolete tumoral calcinosis
is_obsolete: true
replaced_by: MONDO:0018891

[Term]
id: MONDO:0000102
name: obsolete vertigo
is_obsolete: true

[Term]
id: MONDO:0000103
name: obsolete Wilms tumor
is_obsolete: true
replaced_by: MONDO:0019004

[Term]
id: MONDO:0000104
name: anemia, hypochromic microcytic with iron overload
synonym: "anemia, hypochromic microcytic, with iron overload" EXACT [OMIMPS:206100]
xref: DC:0000469 {source="MONDO:equivalentTo"}
xref: MESH:C567144 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:206100 {source="MONDO:equivalentTo", source="DC:0000469"}
xref: UMLS:C2673913 {source="MONDO:equivalentTo"}
is_a: MONDO:0000387 {source="DC:0000469"} ! hypochromic microcytic anemia (disease)
property_value: exactMatch http://identifiers.org/mesh/C567144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673913

[Term]
id: MONDO:0000105
name: anemia, nonspherocytic hemolytic
xref: DC:0000470 {source="MONDO:equivalentTo"}
is_a: MONDO:0006506 {source="DC:0000470"} ! congenital nonspherocytic hemolytic anemia

[Term]
id: MONDO:0000106
name: obsolete apnea (disease)
synonym: "apnea" EXACT [MONDO:ambiguous]
xref: DC:0000472
is_obsolete: true

[Term]
id: MONDO:0000107
name: auriculocondylar syndrome
def: "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." [Orphanet:137888]
subset: ordo_malformation_syndrome {source="Orphanet:137888"}
synonym: "auriculo-condylar syndrome" EXACT [MONDO:cjm]
synonym: "dysgnathia complex" RELATED [MONDO:cjm]
synonym: "ears prominent and constricted" RELATED [GARD:0009798]
synonym: "question mark ear" RELATED [GARD:0009798]
synonym: "question mark ear syndrome" EXACT [Orphanet:137888]
synonym: "question-mark ear syndrome" RELATED [MONDO:cjm]
xref: DC:0000475 {source="MONDO:equivalentTo"}
xref: GARD:0009798 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.8 {source="Orphanet:137888", source="ORDO:137888/attributed", source="ORDO:137888/ntbt"}
xref: MESH:C538270 {source="Orphanet:137888", source="ORDO:137888/e", source="MONDO:equivalentTo"}
xref: OMIMPS:602483 {source="MONDO:equivalentTo", source="DC:0000475"}
xref: Orphanet:137888 {source="MONDO:equivalentTo"}
xref: SCTID:702443003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
xref: UMLS:C1865295 {source="Orphanet:137888", source="ORDO:137888/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN160484 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007500 {source="MONDO:cjm", source="linkedlifedata"} ! ear malformation
is_a: MONDO:0015334 {source="Orphanet:137888"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015397 {source="Orphanet:137888"} ! oculo-auriculo-vertebral spectrum
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C538270
property_value: exactMatch http://identifiers.org/snomedct/702443003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865295
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN160484
property_value: exactMatch Orphanet:137888

[Term]
id: MONDO:0000108
name: bacteremia, susceptibility
subset: predisposition
xref: DC:0000476 {source="MONDO:equivalentTo"}
xref: UMLS:C3280646 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="DC:0000476"} ! inherited disease susceptibility
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280646

[Term]
id: MONDO:0000109
name: obsolete basal ganglia calcification, idiopathic
xref: DC:0000478
is_obsolete: true
replaced_by: MONDO:0000720

[Term]
id: MONDO:0000110
name: bifid nose
def: "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." [Orphanet:2695]
subset: ordo_malformation_syndrome {source="Orphanet:2695"}
xref: DC:0000479 {source="MONDO:equivalentTo"}
xref: GARD:0000884 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q30.2 {source="Orphanet:2695", source="ORDO:2695/attributed", source="ORDO:2695/ntbt"}
xref: MESH:C535441 {source="ORDO:2695/e", source="Orphanet:2695", source="MONDO:equivalentTo"}
xref: Orphanet:2695 {source="MONDO:equivalentTo"}
xref: UMLS:CN227089 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015412 {source="Orphanet:2695"} ! median facial cleft
is_a: MONDO:0015503 {source="Orphanet:2695"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:2695", source="Orphanet:2695/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C535441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227089
property_value: exactMatch Orphanet:2695

[Term]
id: MONDO:0000111
name: camptodactyly syndrome, Guadalajara
comment: Text for OMIM 211910 includes 211920 and 611929 as other types. {source="DC:0000486"}
xref: DC:0000486 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease

[Term]
id: MONDO:0000112
name: obsolete cardioencephalomyopathy, fatal infantile
is_obsolete: true
replaced_by: MONDO:0015487

[Term]
id: MONDO:0000113
name: obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome
xref: DC:0000490
is_obsolete: true

[Term]
id: MONDO:0000114
name: cerebelloparenchymal disorder
xref: DC:0000491 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease

[Term]
id: MONDO:0000115
name: Chiari malformation
def: "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." [NCIT:C84570]
comment: Nomenclature of OMIM 118420 includes 207950 as another type. {source="DC:0000492"}
synonym: "(Arnold) Chiari malformation" EXACT [NCIT:C84570]
synonym: "Arnold-Chiari malformation" EXACT [NCIT:C84570]
synonym: "Chiari malformation" EXACT [NCIT:C84570]
xref: DC:0000492 {source="MONDO:equivalentTo"}
xref: MESH:D001139 {source="MONDO:equivalentTo"}
xref: NCIT:C84570 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.67/1.58"}
xref: SCTID:253184003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003803
property_value: exactMatch http://identifiers.org/mesh/D001139
property_value: exactMatch http://identifiers.org/snomedct/253184003
property_value: exactMatch NCIT:C84570

[Term]
id: MONDO:0000116
name: obsolete cortical dysplasia, complex, with other brain malformations
xref: DC:0000498
is_obsolete: true
replaced_by: MONDO:0000904

[Term]
id: MONDO:0000117
name: obsolete diarrhea, congenital
is_obsolete: true
replaced_by: MONDO:0000824

[Term]
id: MONDO:0000118
name: reticulate pigment disorder
synonym: "reticulate pigment disorders" EXACT [OMIMPS:179850]
xref: DC:0000504 {source="MONDO:equivalentTo"}
xref: OMIMPS:179850 {source="MONDO:equivalentTo", source="DC:0000504"}
is_a: MONDO:0006600 {source="MONDO:cjm"} ! pigmentation disease

[Term]
id: MONDO:0000119
name: congenital heart defects, multiple types
comment: Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. {source="DC:0000506"}
synonym: "CHTD" RELATED []
xref: DC:0000506 {source="MONDO:equivalentTo"}
is_a: MONDO:0005453 {source="DC:0000506", source="MONDOLEX:0000119"} ! congenital heart disease

[Term]
id: MONDO:0000120
name: obsolete ectopia lentis, isolated
is_obsolete: true
replaced_by: MONDO:0015998

[Term]
id: MONDO:0000121
name: obsolete emphysema
is_obsolete: true
replaced_by: MONDO:0005024

[Term]
id: MONDO:0000122
name: obsolete facial paresis, hereditary congenital
xref: DC:0000516 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0011090

[Term]
id: MONDO:0000123
name: obsolete factor v and Factor VIII, combined deficiency of
is_obsolete: true
replaced_by: MONDO:0018175

[Term]
id: MONDO:0000124
name: obsolete focal facial dermal dysplasia
is_obsolete: true
replaced_by: MONDO:0018363

[Term]
id: MONDO:0000125
name: obsolete fundus dystrophy, pseudoinflammatory
is_obsolete: true

[Term]
id: MONDO:0000126
name: obsolete gastric cancer
is_obsolete: true
replaced_by: MONDO:0001056

[Term]
id: MONDO:0000127
name: geleophysic dysplasia
def: "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." [Orphanet:2623]
subset: ordo_malformation_syndrome {source="Orphanet:2623"}
synonym: "Geleophysic dwarfism" EXACT [Orphanet:2623]
synonym: "geleophysic dwarfism syndrome" RELATED [MONDO:cjm]
xref: DC:0000524 {source="MONDO:equivalentTo"}
xref: GARD:0002449 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:2623/attributed", source="ORDO:2623/ntbt", source="Orphanet:2623"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063361 {source="Orphanet:2623", source="ORDO:2623/e"}
xref: OMIMPS:231050 {source="MONDO:equivalentTo", source="DC:0000524"}
xref: Orphanet:2623 {source="MONDO:equivalentTo"}
xref: SCTID:28557005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019695 {source="Orphanet:2623"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/meddra/10063361
property_value: exactMatch http://identifiers.org/mesh/C537677
property_value: exactMatch http://identifiers.org/snomedct/28557005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489726
property_value: exactMatch Orphanet:2623

[Term]
id: MONDO:0000128
name: giant axonal neuropathy
def: "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." [NCIT:C84728]
comment: See genetic heterogeneity of OMIM 256850. {source="DC:0000525"}
subset: clingen
xref: DC:0000525 {source="MONDO:equivalentTo"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D056768 {source="MONDO:equivalentTo"}
xref: NCIT:C84728 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:256850 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:128207002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850386 {source="MONDO:equivalentTo", source="NCIT:C84728"}
is_a: MONDO:0004183 {source="DC:0000525", source="MONDOLEX:0000128", source="linkedlifedata"} ! axonal neuropathy
property_value: exactMatch http://identifiers.org/mesh/D056768
property_value: exactMatch http://identifiers.org/snomedct/128207002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850386
property_value: exactMatch NCIT:C84728

[Term]
id: MONDO:0000129
name: glutaric aciduria (disease)
comment: Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency
synonym: "glutaric acidemia" EXACT [MONDO:cjm]
synonym: "glutaric aciduria" EXACT [MONDO:ambiguous]
xref: DC:0000526 {source="MONDO:equivalentTo"}
xref: HP:0003150 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="ontobio"}
xref: HP:0003530 {source="MONDO:equivalentTo"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:28987007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/28987007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268594

[Term]
id: MONDO:0000130
name: obsolete hypercarotenemia and vitamin a deficiency
is_obsolete: true

[Term]
id: MONDO:0000131
name: obsolete hyperpigmentation, familial progressive
is_obsolete: true

[Term]
id: MONDO:0000132
name: obsolete hypocalcemia (disease)
xref: DC:0000541 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000133
name: immunodeficiency-centromeric instability-facial anomalies syndrome
def: "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." [Orphanet:2268]
subset: ordo_malformation_syndrome {source="Orphanet:2268"}
synonym: "CIID" RELATED [GARD:0002945]
synonym: "ICF syndrome" RELATED [DOID:0090007]
synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIMPS:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268]
xref: DC:0000544 {source="MONDO:equivalentTo"}
xref: DOID:0090007 {source="MONDO:equivalentTo"}
xref: GARD:0002945 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D84.8 {source="Orphanet:2268", source="ORDO:2268/attributed", source="ORDO:2268/ntbt", source="DOID:0090007"}
xref: MESH:C537362 {source="MONDO:equivalentTo"}
xref: OMIMPS:242860 {source="MONDO:equivalentTo", source="DC:0000544", source="DOID:0090007"}
xref: Orphanet:2268 {source="MONDO:equivalentTo", source="DOID:0090007"}
xref: SCTID:234633000 {source="MONDO:equivalentTo"}
xref: UMLS:CN201349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0090007", source="MONDO:Redundant", source="Orphanet:2268"} ! autosomal recessive disease
is_a: MONDO:0015707 {source="Orphanet:2268"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: exactMatch DOID:0090007
property_value: exactMatch http://identifiers.org/mesh/C537362
property_value: exactMatch http://identifiers.org/snomedct/234633000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201349
property_value: exactMatch Orphanet:2268

[Term]
id: MONDO:0000134
name: obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia
is_obsolete: true
replaced_by: MONDO:0000507

[Term]
id: MONDO:0000135
name: obsolete Kenny-Caffey syndrome
is_obsolete: true
replaced_by: MONDO:0016516

[Term]
id: MONDO:0000136
name: keratosis follicularis spinulosa decalvans
def: "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." [Orphanet:2340]
subset: ordo_disease {source="Orphanet:2340"}
synonym: "keratosis pilaris decalvans" EXACT [MONDO:cjm]
xref: DC:0000550 {source="MONDO:equivalentTo"}
xref: GARD:0006829 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.8 {source="ORDO:2340/attributed", source="ORDO:2340/ntbt", source="Orphanet:2340"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:2340 {source="MONDO:equivalentTo"}
xref: SCTID:238626006 {source="MONDO:kboom-pr-1.00/0.80/8.69", source="MONDO:equivalentTo"}
is_a: MONDO:0006552 {source="DC:0000550"} ! folliculitis
is_a: MONDO:0006566 {source="DC:0000550"} ! keratosis
is_a: MONDO:0018855 {source="MONDOLEX:0000136", source="Orphanet:2340", source="linkedlifedata"} ! keratosis pilaris atrophicans
is_a: MONDO:0020162 {source="Orphanet:2340"} ! secondary ectropion
property_value: exactMatch http://identifiers.org/snomedct/238626006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343057
property_value: exactMatch Orphanet:2340

[Term]
id: MONDO:0000137
name: leukoencephalopathy, megalencephalic
xref: DC:0000556 {source="MONDO:equivalentTo"}
xref: OMIMPS:604004 {source="MONDO:equivalentTo", source="DC:0000556"}
is_a: MONDO:0005560 {source="DC:0000556"} ! brain disease

[Term]
id: MONDO:0000138
name: metaphyseal chondrodysplasia (disease)
synonym: "metaphyseal chondrodysplasia" EXACT [MONDO:ambiguous]
xref: DC:0000558 {source="MONDO:equivalentTo"}
xref: HP:0005871 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:28681006 {source="MONDO:kboom-pr-1.00/0.91/28.49", source="MONDO:equivalentTo"}
is_a: MONDO:0009943 {source="DC:0000558"} ! Pyle disease
property_value: exactMatch http://identifiers.org/snomedct/28681006

[Term]
id: MONDO:0000139
name: obsolete microcephalic primordial dwarfism
is_obsolete: true
replaced_by: MONDO:0017950

[Term]
id: MONDO:0000141
name: mosaic variegated aneuploidy syndrome
def: "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." [Orphanet:1052]
subset: ordo_malformation_syndrome {source="Orphanet:1052"}
synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192]
synonym: "MVA1" EXACT [NCIT:C128192]
synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052]
xref: DC:0000564 {source="MONDO:equivalentTo"}
xref: GARD:0003007 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q99.8 {source="ORDO:1052/attributed", source="ORDO:1052/ntbt", source="Orphanet:1052"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536987 {source="MONDO:equivalentTo", source="ORDO:1052/e", source="Orphanet:1052"}
xref: NCIT:C128192 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.07"}
xref: OMIMPS:257300 {source="DC:0000564", source="MONDO:equivalentTo"}
xref: Orphanet:1052 {source="MONDO:equivalentTo", source="OMIM:257300"}
xref: SCTID:700056005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850343 {source="MONDO:equivalentTo", source="OMIM:257300", source="NCIT:C128192", source="ORDO:1052/e", source="Orphanet:1052"}
is_a: MONDO:0015945 {source="Orphanet:1052"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly
is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C128192"} ! neoplastic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931286
property_value: exactMatch http://identifiers.org/mesh/C536987
property_value: exactMatch http://identifiers.org/snomedct/700056005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850343
property_value: exactMatch NCIT:C128192
property_value: exactMatch Orphanet:1052

[Term]
id: MONDO:0000142
name: obsolete multiple congenital anomalies-hypotonia-seizures syndrome
xref: DC:0000565 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0019042

[Term]
id: MONDO:0000143
name: obsolete multiple mitochondrial dysfunctions syndrome
xref: DC:0000566 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000144
name: pregnancy loss, recurrent, susceptibility
comment: See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759. {source="DC:0000580"}
subset: predisposition
xref: DC:0000580 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility

[Term]
id: MONDO:0000145
name: obsolete premature aging syndrome
xref: DC:0000581 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000146
name: obsolete progeroid syndrome
is_obsolete: true
replaced_by: MONDO:0015333

[Term]
id: MONDO:0000147
name: polyposis
synonym: "multiple polyps" EXACT [NCIT:C4089]
synonym: "polyposis" EXACT [NCIT:C4089]
xref: DC:0000587 {source="MONDO:equivalentTo"}
xref: NCIT:C4089 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334108 {source="NCIT:C4089", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0021075 {source="NCIT:C4089"} ! neoplastic polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334108
property_value: exactMatch NCIT:C4089

[Term]
id: MONDO:0000148
name: pulmonary fibrosis and/or bone marrow failure, telomere-related
comment: See genetic heterogeneity of OMIM 614742. {source="DC:0000590"}
xref: DC:0000590 {source="MONDO:equivalentTo"}
xref: OMIMPS:614742 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN262497 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002771 {source="DC:0000590"} ! pulmonary fibrosis
is_a: MONDO:0003225 {source="DC:0000590"} ! bone marrow disease
is_a: MONDO:0100137 {source="OMIMPS:614742", source="https://github.com/monarch-initiative/mondo/issues/1631"} ! telomere syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN262497

[Term]
id: MONDO:0000149
name: obsolete retinopathy
is_obsolete: true
replaced_by: MONDO:0005283

[Term]
id: MONDO:0000150
name: obsolete spondylometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0016763

[Term]
id: MONDO:0000151
name: symphalangism
xref: DC:0000599 {source="MONDO:equivalentTo"}
xref: SCTID:253975004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
property_value: exactMatch http://identifiers.org/snomedct/253975004

[Term]
id: MONDO:0000152
name: thiamine-responsive dysfunction syndrome
xref: DC:0000600 {source="MONDO:equivalentTo"}
xref: OMIMPS:249270 {source="MONDO:equivalentTo", source="DC:0000600"}
is_a: MONDO:0017578 ! disorder of thiamine metabolism and transport

[Term]
id: MONDO:0000153
name: transposition of the great arteries
def: "A congenital cardiac defect in which two heart vessels are reversed (transposed)." [NCIT:C84742]
subset: ordo_group_of_disorders {source="Orphanet:216675"}
synonym: "complete transposition" EXACT [Orphanet:216675]
synonym: "great vessels transposition" EXACT [NCIT:C84742]
synonym: "TGA" EXACT [Orphanet:216675]
synonym: "TGV" EXACT [Orphanet:216675]
synonym: "transposition of great vessels" EXACT [NCIT:C84742]
synonym: "transposition of the great vessels" EXACT [Orphanet:216675]
xref: DC:0000602 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.3 {source="ORDO:216675/btnt", source="Orphanet:216675"}
xref: ICD10:Q20.5 {source="ORDO:216675/btnt", source="Orphanet:216675"}
xref: MESH:D014188 {source="MONDO:equivalentTo"}
xref: NCIT:C84742 {source="MONDO:equivalentTo"}
xref: Orphanet:216675 {source="MONDO:equivalentTo"}
is_a: MONDO:0020285 {source="Orphanet:216675"} ! transposition of the great arteries and conotruncal cardiac anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040761
property_value: exactMatch http://identifiers.org/mesh/D014188
property_value: exactMatch NCIT:C84742
property_value: exactMatch Orphanet:216675

[Term]
id: MONDO:0000154
name: obsolete Trichohepatoenteric syndrome
is_obsolete: true

[Term]
id: MONDO:0000155
name: triglyceride storage disease
def: "An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride." [MONDO:patterns/inborn_metabolic]
comment: See text of OMIM 190430. {source="DC:0000605"}
synonym: "inborn error of sequestering of triglyceride" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sequestering of triglyceride disorder" EXACT []
synonym: "rare inborn error of sequestering of triglyceride" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sequestering of triglyceride" RELATED [MONDO:patterns/inborn_metabolic]
xref: DC:0000605 {source="MONDO:equivalentTo"}
is_a: MONDO:0019245 {source="MONDO:Redundant", source="MONDO:cjm"} ! lysosomal lipid storage disorder

[Term]
id: MONDO:0000156
name: trigonocephaly
synonym: "trigonocephalia" RELATED [MONDO:cjm]
synonym: "trigonocephalus" RELATED [MONDO:cjm]
synonym: "trigonocephaly" EXACT [OMIMPS:190440]
synonym: "trigonocephaly, isolated" RELATED [OMIMPS:190440]
xref: DC:0000606 {source="MONDO:equivalentTo"}
xref: SCTID:28740008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0018234 ! dysostosis
property_value: exactMatch http://identifiers.org/snomedct/28740008

[Term]
id: MONDO:0000157
name: obsolete episodic pain syndrome, familial
xref: DC:0000616
is_obsolete: true

[Term]
id: MONDO:0000158
name: developmental dysplasia of the hip
def: "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." [NCIT:P378]
synonym: "congenital acetabular dysplasia" RELATED [MONDO:cjm]
synonym: "congenital dysplasia of the hip" RELATED [MONDO:cjm]
synonym: "congenital hip dysplasia" EXACT [MONDO:cjm]
synonym: "dysplasia of acetabulum" RELATED [MONDO:cjm]
xref: DC:0000618 {source="MONDO:equivalentTo"}
xref: EFO:1000648 {source="MONDO:equivalentTo"}
xref: ICD9:755.63 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:142700 {source="DC:0000618", source="MONDO:equivalentTo"}
xref: SCTID:52781008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.29/0.06"}
xref: UMLS:C1840555 {source="MONDO:equivalentTo"}
is_a: MONDO:0005497 {source="EFO:1000648", source="linkedlifedata/inferred"} ! bone development disease
property_value: exactMatch http://identifiers.org/mesh/D006618
property_value: exactMatch http://identifiers.org/snomedct/52781008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840555
property_value: exactMatch NCIT:C119752

[Term]
id: MONDO:0000159
name: bone marrow failure syndrome
comment: Genetic heterogeneity of OMIM 614675 includes 615715. {source="DC:0000621"}
xref: DC:0000621 {source="MONDO:equivalentTo"}
xref: MESH:C536572 {source="MONDO:equivalentTo"}
xref: OMIMPS:614675 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:C2931245 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0003225 {source="DC:0000621", source="MESH:C536572/inferred"} ! bone marrow disease
property_value: exactMatch http://identifiers.org/mesh/C536572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931245

[Term]
id: MONDO:0000160
name: epilepsy, familial adult myoclonic
xref: DC:0000624 {source="MONDO:equivalentTo"}
xref: OMIMPS:601068 {source="MONDO:equivalentTo", source="DC:0000624"}
is_a: MONDO:0016022 {source="DC:0000624"} ! early myoclonic encephalopathy

[Term]
id: MONDO:0000161
name: obsolete adrenal hyperplasia (disease)
synonym: "adrenal hyperplasia" EXACT [MONDO:ambiguous]
xref: DC:0000631
xref: UMLS:C1621895 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621895
is_obsolete: true

[Term]
id: MONDO:0000162
name: autoimmune thyroid disease, susceptibility to
comment: Editor note: TODO
subset: predisposition
xref: DC:0000634 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005623 ! autoimmune thyroid disease
relationship: excluded_subClassOf MONDO:0007699 {source="DC:0000634"} ! Hashimoto thyroiditis
relationship: predisposes_towards MONDO:0005623 ! autoimmune thyroid disease

[Term]
id: MONDO:0000163
name: obsolete breast-ovarian cancer, familial, susceptibility to
subset: predisposition
is_obsolete: true
replaced_by: MONDO:0003582

[Term]
id: MONDO:0000164
name: obsolete corneal dystrophy, Fuchs endothelial
is_obsolete: true
replaced_by: MONDO:0005321

[Term]
id: MONDO:0000165
name: obsolete ectodermal dysplasia-syndactyly syndrome
is_obsolete: true
replaced_by: MONDO:0013311

[Term]
id: MONDO:0000166
name: encephalopathy, acute, infection-induced
xref: DC:0000646 {source="MONDO:equivalentTo"}
xref: OMIMPS:610551 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN236791 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DC:0000646"} ! brain disease
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0021669 ! post-infectious disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236791

[Term]
id: MONDO:0000167
name: Huntington disease and related disorders
def: "A grouping for Huntington disease and similar diseases." [MONDO:cjm]
xref: DC:0000649 {source="MONDO:equivalentTo"}
is_a: MONDO:0024237 ! inherited neurodegenerative disorder

[Term]
id: MONDO:0000168
name: obsolete mental retardation, X-linked, nonsyndromic
is_obsolete: true
replaced_by: MONDO:0019181

[Term]
id: MONDO:0000169
name: microphthalmia, isolated, with cataract
xref: DC:0000657 {source="MONDO:equivalentTo"}
xref: OMIMPS:156850 {source="MONDO:equivalentTo", source="DC:0000657"}
is_a: MONDO:0000062 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0000169"} ! isolated microphthalmia
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: disease_has_feature MONDO:0005129 ! cataract (disease)
relationship: disease_has_feature MONDO:0005129 ! cataract (disease)

[Term]
id: MONDO:0000170
name: microphthalmia, isolated, with coloboma
xref: DC:0000658 {source="MONDO:equivalentTo"}
xref: OMIMPS:300345 {source="MONDO:equivalentTo", source="DC:0000658"}
is_a: MONDO:0000062 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0000170"} ! isolated microphthalmia
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: disease_has_feature MONDO:0001476 ! coloboma
relationship: disease_has_feature MONDO:0001476 ! coloboma

[Term]
id: MONDO:0000171
name: muscular dystrophy-dystroglycanopathy, type A
xref: DC:0000659 {source="MONDO:equivalentTo"}
xref: OMIMPS:236670 {source="MONDO:equivalentTo", source="DC:0000659"}
is_a: MONDO:0018276 {source="DC:0000659", source="MONDOLEX:0000171"} ! muscular dystrophy-dystroglycanopathy

[Term]
id: MONDO:0000172
name: muscular dystrophy-dystroglycanopathy, type B
xref: DC:0000660 {source="MONDO:equivalentTo"}
xref: OMIMPS:613155 {source="DC:0000660", source="MONDO:equivalentTo"}
xref: UMLS:CN228400 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018276 {source="DC:0000660", source="MONDOLEX:0000172"} ! muscular dystrophy-dystroglycanopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228400

[Term]
id: MONDO:0000173
name: muscular dystrophy-dystroglycanopathy, type C
xref: DC:0000661 {source="MONDO:equivalentTo"}
xref: OMIMPS:609308 {source="DC:0000661", source="MONDO:equivalentTo"}
xref: UMLS:CN262500 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018276 {source="DC:0000661", source="MONDOLEX:0000173"} ! muscular dystrophy-dystroglycanopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN262500

[Term]
id: MONDO:0000174
name: obsolete split-hand/foot malformation with long bone deficiency
is_obsolete: true

[Term]
id: MONDO:0000175
name: obsolete ataxia-telangiectasia-like disorder
is_obsolete: true
replaced_by: MONDO:0011457

[Term]
id: MONDO:0000176
name: obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
is_obsolete: true
replaced_by: MONDO:0019375

[Term]
id: MONDO:0000177
name: obsolete laryngeal abductor paralysis
is_obsolete: true

[Term]
id: MONDO:0000178
name: obsolete breasts and/or nipples, aplasia or hypoplasia of
xref: DC:0000671
is_obsolete: true

[Term]
id: MONDO:0000179
name: Neu-Laxova syndrome
def: "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." [Orphanet:2671]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2671"}
synonym: "Neu Laxova syndrome" RELATED [GARD:0000102]
synonym: "NLS" RELATED [GARD:0000102]
synonym: "nuclear localization signal" EXACT [NCIT:C14089]
xref: DC:0000672 {source="MONDO:equivalentTo"}
xref: GARD:0000102 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2671/attributed", source="ORDO:2671/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536405 {source="MONDO:equivalentTo", source="ORDO:2671/e"}
xref: NCIT:C14089 {source="MONDO:equivalentTo"}
xref: OMIMPS:256520 {source="DC:0000672", source="MONDO:equivalentTo"}
xref: Orphanet:2671 {source="GARD:0000102", source="MONDO:equivalentTo", source="OMIM:256520"}
xref: SCTID:77817004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.53"}
xref: UMLS:C0265218 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000102", source="MONDO:equivalentTo", source="ORDO:2671/e"}
is_a: MONDO:0015148 {source="Orphanet:2671"} ! lissencephaly type 3
is_a: MONDO:0015159 {source="Orphanet:2671"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017272 {source="Orphanet:2671"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0017273 {source="Orphanet:2671"} ! autosomal ichthyosis syndrome with fatal disease course
is_a: MONDO:0018491 {source="Orphanet:2671"} ! 3-phosphoglycerate dehydrogenase deficiency
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536405
property_value: exactMatch http://identifiers.org/snomedct/77817004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265218
property_value: exactMatch NCIT:C14089
property_value: exactMatch Orphanet:2671

[Term]
id: MONDO:0000180
name: obsolete inflammatory skin and bowel disease, neonatal
is_obsolete: true
replaced_by: MONDO:0017411

[Term]
id: MONDO:0000181
name: microcephaly and chorioretinopathy
comment: Note that OMIM has two PS that appear to refer to the same thing
xref: DC:0000676 {source="MONDO:equivalentTo"}
xref: OMIMPS:251270 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: OMIMPS:251279 {source="MONDO:equivalentTo", source="DC:0000676"}
is_a: MONDO:0001149 {source="DC:0000676"} ! microcephaly (disease)
is_a: MONDO:0004674 {source="DC:0000676"} ! chorioretinitis (disease)

[Term]
id: MONDO:0000182
name: congenital myasthenic syndrome with tubular aggregates
def: "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." [MONDO:cjm, PMID:21975507]
synonym: "CMS-TA" EXACT [PMID:21975507]
synonym: "myasthenic syndrome, congenital, with tubular aggregates" EXACT [OMIMPS:610542]
xref: DC:0000677 {source="MONDO:equivalentTo"}
xref: OMIMPS:610542 {source="MONDO:equivalentTo", source="DC:0000677"}
xref: UMLS:CN228621 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="DC:0000677", source="MONDOLEX:0000182"} ! congenital myasthenic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228621

[Term]
id: MONDO:0000183
name: obsolete hypertrophic osteoarthropathy, primary
is_obsolete: true
replaced_by: MONDO:0016620

[Term]
id: MONDO:0000184
name: obsolete congenital vitamin K-dependent coagulation factors combined deficiency
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/400 xsd:string
is_obsolete: true
replaced_by: MONDO:0015722

[Term]
id: MONDO:0000185
name: obsolete polyposis syndrome, hereditary mixed
is_obsolete: true

[Term]
id: MONDO:0000186
name: obsolete spondyloepimetaphyseal dysplasia with joint laxity
is_obsolete: true
replaced_by: MONDO:0019675

[Term]
id: MONDO:0000187
name: obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome
is_obsolete: true
replaced_by: MONDO:0010004

[Term]
id: MONDO:0000188
name: GLUT1 deficiency syndrome
comment: Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1
synonym: "GLUT1DS" EXACT [MONDO:cjm]
xref: DC:0000690 {source="MONDO:equivalentTo"}
xref: OMIMPS:606777 {source="DC:0000690", source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease
is_a: MONDO:0019226 ! glucose transport disorder
is_a: MONDO:0044975 ! disease of transporter activity
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy

[Term]
id: MONDO:0000189
name: obsolete Schindler disease
is_obsolete: true

[Term]
id: MONDO:0000190
name: ventricular fibrillation (disease)
def: "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" [NCIT:P378]
synonym: "fibrillation, ventricular" EXACT [NCIT:C50799]
synonym: "ventricular fibrillation" EXACT [MONDO:ambiguous]
synonym: "VF" EXACT [NCIT:C50799]
synonym: "VFib" EXACT [NCIT:C50799]
xref: COHD:437894 {source="MONDO:equivalentTo"}
xref: DC:0000692 {source="MONDO:equivalentTo"}
xref: EFO:0004287 {source="MONDO:equivalentTo"}
xref: HP:0001663 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:427.41 {source="EFO:0004287", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014693 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50799 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:71908006 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042510 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C50799", source="MONDO:equivalentTo"}
is_a: MONDO:0007263 {source="EFO:0004287", source="NCIT:C50799", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease
property_value: exactMatch http://identifiers.org/mesh/D014693
property_value: exactMatch http://identifiers.org/snomedct/71908006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042510
property_value: exactMatch NCIT:C50799

[Term]
id: MONDO:0000191
name: obsolete renal hypodysplasia/aplasia
is_obsolete: true

[Term]
id: MONDO:0000192
name: polyglucosan body myopathy
xref: DC:0000696 {source="MONDO:equivalentTo"}
xref: OMIMPS:615895 {source="DC:0000696", source="MONDO:equivalentTo"}
xref: UMLS:CN228160 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="MONDO:cjm"} ! myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228160

[Term]
id: MONDO:0000193
name: cortisone reductase deficiency
def: "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." [PMID:21325058]
subset: gard_rare {source="GARD:0009882"}
subset: ordo_malformation_syndrome {source="Orphanet:168588"}
synonym: "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" RELATED [GARD:0009882]
synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588]
synonym: "CORTRD" EXACT [DOID:0090139]
synonym: "deficiency of (R)-20-hydroxysteroid dehydrogenase" EXACT [MONDO:cjm]
synonym: "deficiency of cortisone reductase" EXACT [MONDO:cjm]
synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882]
synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT []
xref: DC:0000697 {source="MONDO:equivalentTo"}
xref: DOID:0090139 {source="MONDO:equivalentTo"}
xref: GARD:0009882 {source="MONDO:equivalentTo"}
xref: ICD10:E25.8 {source="Orphanet:168588", source="ORDO:168588/attributed", source="ORDO:168588/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536447 {source="MONDO:equivalentTo"}
xref: OMIMPS:604931 {source="MONDO:equivalentTo", source="DC:0000697", source="DOID:0090139"}
xref: Orphanet:168588 {source="MONDO:equivalentTo"}
xref: SCTID:124138004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:CN200166 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome
is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle of genetic origin
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1291245
property_value: exactMatch DOID:0090139
property_value: exactMatch http://identifiers.org/mesh/C536447
property_value: exactMatch http://identifiers.org/snomedct/124138004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200166
property_value: exactMatch Orphanet:168588
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency xsd:anyURI {source="GARD:0009882"}

[Term]
id: MONDO:0000194
name: obsolete Otofaciocervical syndrome
is_obsolete: true
replaced_by: MONDO:0008163

[Term]
id: MONDO:0000195
name: obsolete atrial standstill
is_obsolete: true
replaced_by: MONDO:0015281

[Term]
id: MONDO:0000196
name: obsolete ataxia-oculomotor apraxia
comment: Based on genetic heterogeneity of OMIM 208920. {source="DC:0000702"}
xref: DC:0000702
is_obsolete: true

[Term]
id: MONDO:0000197
name: obsolete singleton-Merten syndrome
is_obsolete: true
replaced_by: MONDO:0008429

[Term]
id: MONDO:0000198
name: obsolete linear skin defects with multiple congenital anomalies
is_obsolete: true

[Term]
id: MONDO:0000199
name: obsolete familial adenomatous polyposis
is_obsolete: true
replaced_by: MONDO:0021055

[Term]
id: MONDO:0000200
name: Zimmermann-Laband syndrome
def: "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." [Orphanet:3473]
subset: ordo_malformation_syndrome {source="Orphanet:3473"}
subset: prototype_pattern
synonym: "fibromatosis gingival, hepatosplenomegaly other anomalies" RELATED [GARD:0000385]
synonym: "gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly" RELATED [GARD:0000385]
synonym: "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome" EXACT [Orphanet:3473]
synonym: "Laband syndrome" EXACT [Orphanet:3473]
synonym: "Laband-Zimmermann syndrome" RELATED [MONDO:cjm]
synonym: "Zimmerman Laband syndrome" RELATED [GARD:0000385]
synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical, OMIM:135500]
synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500]
synonym: "ZLS" RELATED [GARD:0000385]
synonym: "ZLS1" RELATED [MONDO:Lexical, OMIM:135500]
xref: DC:0000708 {source="MONDO:equivalentTo"}
xref: GARD:0000385 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:3473/attributed", source="ORDO:3473/ntbt", source="Orphanet:3473"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536725 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:135500 {source="DC:0000708", source="MONDO:equivalentTo"}
xref: Orphanet:3473 {source="MONDO:equivalentTo", source="OMIM:135500"}
xref: SCTID:699447001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0796013 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:135500", source="Orphanet:3473"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3473"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015336 {source="Orphanet:3473"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C536725
property_value: exactMatch http://identifiers.org/snomedct/699447001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796013
property_value: exactMatch Orphanet:3473

[Term]
id: MONDO:0000201
name: obsolete thyroid cancer, nonmedullary
is_obsolete: true
replaced_by: MONDO:0017896

[Term]
id: MONDO:0000202
name: obsolete Heimler syndrome
is_obsolete: true

[Term]
id: MONDO:0000203
name: obsolete Dehydrated hereditary stomatocytosis
is_obsolete: true
replaced_by: MONDO:0017910

[Term]
id: MONDO:0000204
name: obsolete skin creases, congenital symmetric circumferential
xref: DC:0000715 {source="MONDO:obsoleteEquivalent"}
xref: OMIMPS:156610 {source="MONDO:equivalentTo", source="DC:0000715"}
is_obsolete: true

[Term]
id: MONDO:0000205
name: obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia
is_obsolete: true

[Term]
id: MONDO:0000206
name: obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
synonym: "CADASIL" EXACT ABBREVIATION [MONDOLEX:0000206]
synonym: "obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL" EXACT [MONDOLEX:0000206]
is_obsolete: true

[Term]
id: MONDO:0000207
name: obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies
is_obsolete: true
replaced_by: MONDO:0014176

[Term]
id: MONDO:0000208
name: microcephaly, short stature, and impaired glucose metabolism 1
synonym: "microcephaly, short stature, and impaired glucose metabolism" RELATED [MONDO:Lexical, OMIM:616033]
synonym: "microcephaly, short stature, and impaired glucose metabolism 1" EXACT [OMIM:616033]
synonym: "microcephaly, short stature, and impaired glucose metabolism 1; MSSGM1" EXACT [OMIM:616033]
synonym: "microcephaly, short stature, and impaired glucose metabolism; MSSGM" RELATED [OMIM:616033]
synonym: "MSSGM" RELATED [MONDO:Lexical, OMIM:616033]
synonym: "MSSGM1" EXACT [OMIM:616033]
xref: DC:0000719 {source="MONDO:equivalentTo"}
xref: OMIM:616033 {source="MONDO:equivalentTo"}
xref: UMLS:C4014997 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:616033"}
is_a: MONDO:0001149 {source="MONDO:cjm"} ! microcephaly (disease)
is_a: MONDO:0018320 {source="ORDO:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
property_value: exactMatch http://identifiers.org/omim/616033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014997

[Term]
id: MONDO:0000209
name: prenatal-onset spinal muscular atrophy with congenital bone fractures
subset: ordo_disease
synonym: "SMABF" EXACT [Orphanet:486811]
synonym: "spinal muscular atrophy with congenital bone fractures" EXACT [DC:0000720]
xref: DC:0000720 {source="MONDO:equivalentTo"}
xref: OMIMPS:616866 {source="MONDO:equivalentTo", source="DC:0000720"}
xref: Orphanet:486811 {source="MONDO:equivalentTo"}
xref: UMLS:CN238807 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:486811"} ! arthrogryposis multiplex congenita
is_a: MONDO:0024257 {source="Orphanet:486811"} ! hereditary motor neuron disease
relationship: disease_has_feature MONDO:0001516 {source="MONDO:cjm"} ! spinal muscular atrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN238807
property_value: exactMatch Orphanet:486811

[Term]
id: MONDO:0000210
name: thiopurine metabolic disease
xref: DC:0000721 {source="MONDO:equivalentTo"}
xref: OMIMPS:610460 {source="MONDO:equivalentTo", source="DC:0000721"}
is_a: MONDO:0005066 ! metabolic disease

[Term]
id: MONDO:0000211
name: striatal degeneration, autosomal dominant
def: "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." [Orphanet:228169]
comment: See genetic heterogeneity of OMIM 609161 smb. {source="DC:0000722"}
synonym: "ADSD" EXACT [Orphanet:228169]
synonym: "autosomal dominant striatal neurodegeneration" EXACT [Orphanet:228169]
xref: DC:0000722 {source="MONDO:equivalentTo"}
xref: MESH:C563783 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:609161 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:228169 {source="MONDO:equivalentTo"}
xref: UMLS:C1836694 {source="MONDO:equivalentTo"}
is_a: MONDO:0003122 ! striatonigral degeneration
property_value: exactMatch http://identifiers.org/mesh/C563783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836694
property_value: exactMatch Orphanet:228169

[Term]
id: MONDO:0000212
name: hypercalcemia, infantile
def: "A hypercalcemia disease that occurs between 28 days to one year of life.." [MONDO:design_pattern]
synonym: "hypercalcemia disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "infantile hypercalcemia" EXACT [MONDO:cjm]
synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern]
synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: DC:0000724 {source="MONDO:equivalentTo"}
xref: MESH:C562999 {source="MONDO:equivalentTo"}
xref: OMIMPS:143880 {source="MONDO:equivalentTo", source="DC:0000724"}
xref: SCTID:276645004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0001566 ! hypercalcemia disease
property_value: exactMatch http://identifiers.org/mesh/C562999
property_value: exactMatch http://identifiers.org/snomedct/276645004

[Term]
id: MONDO:0000213
name: autoimmune disease, multisystem, infantile-onset
xref: DC:0000725 {source="MONDO:equivalentTo"}
xref: OMIMPS:615952 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN238808 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="MONDO:cjm"} ! autoimmune disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN238808

[Term]
id: MONDO:0000214
name: hypermanganesemia with dystonia
xref: DC:0000727 {source="MONDO:equivalentTo"}
xref: OMIMPS:613280 {source="DC:0000727", source="MONDO:equivalentTo"}
xref: SCTID:768553002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/768553002

[Term]
id: MONDO:0000215
name: obsolete epilepsy, familial focal, with variable foci
is_obsolete: true
replaced_by: MONDO:0020310

[Term]
id: MONDO:0000216
name: obsolete congenital bilateral aplasia of vas deferens
xref: DC:0000730
is_obsolete: true

[Term]
id: MONDO:0000217
name: obsolete Frontometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0010593

[Term]
id: MONDO:0000218
name: preimplantation embryonic lethality
comment: Editor note: this is a phenotypic feature rather than disease, consider obsoleting
xref: DC:0000733 {source="MONDO:equivalentTo"}
xref: OMIMPS:616814 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN282827 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN282827

[Term]
id: MONDO:0000219
name: obsolete uncombable hair syndrome
is_obsolete: true
replaced_by: MONDO:0008621

[Term]
id: MONDO:0000220
name: obsolete anterior segment dysgenesis
is_obsolete: true
replaced_by: MONDO:0019503

[Term]
id: MONDO:0000221
name: obsolete cerebroretinal microangiopathy with calcifications and cysts
is_obsolete: true

[Term]
id: MONDO:0000222
name: seminal vesicle acute gonorrhea
def: "Acute form of gonococcal seminal vesiculitis." [MONDO:patterns/acute]
synonym: "acute gonococcal seminal vesiculitis" EXACT [MONDO:patterns/acute]
synonym: "gonococcal seminal vesiculitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:0050004 {source="MONDO:equivalentTo"}
xref: SCTID:65049003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153194 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001027 {source="DOID:0050004", source="MONDO:Redundant", source="MONDOLEX:0000222", source="linkedlifedata"} ! gonococcal seminal vesiculitis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:0050004
property_value: exactMatch http://identifiers.org/snomedct/65049003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153194

[Term]
id: MONDO:0000223
name: obsolete chikungunya
is_obsolete: true
replaced_by: MONDO:0017941

[Term]
id: MONDO:0000224
name: acquired carbohydrate metabolism disease
def: "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism." [MONDO:DesignPattern]
synonym: "carbohydrate metabolism disease" RELATED [DOID:0050013]
xref: DOID:0050013 {source="MONDO:equivalentTo"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0037792 ! carbohydrate metabolism disease
property_value: exactMatch DOID:0050013

[Term]
id: MONDO:0000225
name: human monocytic ehrlichiosis
def: "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." [https://en.wikipedia.org/wiki/Human_monocytotropic_ehrlichiosis]
subset: gard_rare {source="GARD:0000072"}
synonym: "ehrlichiosis chafeensis" RELATED [DOID:0050026]
synonym: "HME" RELATED [GARD:0000072]
synonym: "Human ehrlichial infection, human monocytic type" RELATED [GARD:0000072]
synonym: "human ehrlichiosis caused by Ehrlichia chaffeensis" RELATED []
synonym: "human ehrlichiosis due to Ehrlichia chaffeensis" EXACT []
xref: DOID:0050026 {source="MONDO:equivalentTo"}
xref: GARD:0000072 {source="MONDO:equivalentTo", source="https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/"}
xref: ICD9:082.41 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:359747000 {source="MONDO:equivalentTo"}
xref: UMLS:C1282983 {source="MONDO:equivalentTo"}
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0016003 {source="DOID:0050026", source="MONDO:Redundant", source="linkedlifedata"} ! ehrlichiosis
property_value: exactMatch DOID:0050026
property_value: exactMatch http://identifiers.org/snomedct/359747000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282983
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis xsd:anyURI {source="GARD:0000072"}

[Term]
id: MONDO:0000226
name: mineral metabolism disease
synonym: "disease of mineral metabolism" EXACT []
synonym: "disorder of mineral metabolism" EXACT []
xref: ICD10:E83 {source="MONDO:equivalentTo"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:275.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:45744005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="ICD10:E83", source="MONDO:cjm", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/45744005

[Term]
id: MONDO:0000227
name: African tick-bite fever
synonym: "Rickettsia africae spotted fever" RELATED [DOID:0050035]
synonym: "South African tick-bite fever" RELATED [DOID:0050035]
xref: DOID:0050035 {source="MONDO:equivalentTo"}
xref: SCTID:415561000 {source="MONDO:equivalentTo"}
xref: UMLS:C1320317 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050035", source="MONDO:Redundant", source="MONDOLEX:0000227"} ! spotted fever
property_value: exactMatch DOID:0050035
property_value: exactMatch http://identifiers.org/snomedct/415561000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1320317

[Term]
id: MONDO:0000228
name: obsolete Astrakhan spotted fever
is_obsolete: true
replaced_by: MONDO:0005677

[Term]
id: MONDO:0000229
name: Indian tick typhus
def: "An infectious disease caused by infection with rickettsia conorii subsp. coronorii." [PMID:18760001]
xref: DOID:0050042 {source="MONDO:equivalentTo"}
xref: Orphanet:101335 {source="MONDO:equivalentTo"}
is_a: MONDO:0005677 ! Rickettsia conorii infectious disease
property_value: exactMatch DOID:0050042
property_value: exactMatch Orphanet:101335

[Term]
id: MONDO:0000230
name: Israeli tick typhus
def: "An infectious disease caused by infection with rickettsia conorii subsp. israelensis." [PMID:18760001]
synonym: "Israeli spotted fever" RELATED [DOID:0050043]
xref: DOID:0050043 {source="MONDO:equivalentTo"}
is_a: MONDO:0005677 ! Rickettsia conorii infectious disease
property_value: exactMatch DOID:0050043

[Term]
id: MONDO:0000231
name: Far eastern spotted fever
synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [DOID:0050046]
xref: DOID:0050046 {source="MONDO:equivalentTo"}
xref: SCTID:472822008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3532354 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050046", source="MONDO:Redundant", source="MONDOLEX:0000231", source="linkedlifedata"} ! spotted fever
property_value: exactMatch DOID:0050046
property_value: exactMatch http://identifiers.org/snomedct/472822008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3532354

[Term]
id: MONDO:0000232
name: Flinders island spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy." [DOID:0050047, http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf, http://www.cdc.gov/otherspottedfever/index.html]
synonym: "FISF" RELATED [DOID:0050047]
synonym: "Thai tick typhus" EXACT [DOID:0050047]
xref: DOID:0050047 {source="MONDO:equivalentTo"}
xref: UMLS:C4505102 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050047", source="MONDO:Redundant", source="MONDOLEX:0000232"} ! spotted fever
property_value: exactMatch DOID:0050047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4505102

[Term]
id: MONDO:0000233
name: Japanese spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities." [DOID:0050050, http://www.cdc.gov/otherspottedfever/index.html, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf]
synonym: "fever, Japanese spotted" RELATED [MSH:D000073605]
synonym: "fevers, Japanese spotted" RELATED [MSH:D000073605]
synonym: "Japanese spotted fever" EXACT [MSH:D000073605]
synonym: "Japanese spotted fevers" RELATED [MSH:D000073605]
synonym: "oriental spotted fever" RELATED [DOID:0050050]
synonym: "Rickettsia japonica spotted fever" EXACT [DOID:0050050]
synonym: "spotted fever, Japanese" RELATED [MSH:D000073605]
xref: DOID:0050050 {source="MONDO:equivalentTo"}
xref: UMLS:C2108396 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050050", source="MONDO:Redundant", source="MONDOLEX:0000233"} ! spotted fever
property_value: closeMatch http://identifiers.org/mesh/D000073605
property_value: exactMatch DOID:0050050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2108396

[Term]
id: MONDO:0000234
name: Rickettsia parkeri spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash." [DOID:0050051, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, http://www.cdc.gov/otherspottedfever/index.html]
synonym: "maculatum infection" RELATED [DOID:0050051]
xref: DOID:0050051 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050051", source="MONDO:Redundant", source="MONDOLEX:0000234"} ! spotted fever
property_value: exactMatch DOID:0050051

[Term]
id: MONDO:0000235
name: obsolete Rocky mountain spotted fever
is_obsolete: true
replaced_by: MONDO:0019359

[Term]
id: MONDO:0000236
name: oropharyngeal anthrax
def: "A anthrax infection that involves the oropharynx." [MONDO:patterns/location]
synonym: "oropharynx anthrax infection" EXACT [MONDO:patterns/location]
xref: DOID:0050059 {source="MONDO:equivalentTo"}
is_a: MONDO:0001701 ! gastrointestinal anthrax
is_a: MONDO:0020592 ! disease of pharynx
relationship: excluded_subClassOf MONDO:0001701 {source="DOID:0050059"} ! gastrointestinal anthrax
property_value: exactMatch DOID:0050059

[Term]
id: MONDO:0000237
name: erysipeloid
def: "An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis." [MESH:D004887]
comment: Editor note: consider merging with parent
xref: DOID:0050061 {source="MONDO:equivalentTo"}
xref: ICD10:A26 {source="MONDO:equivalentTo"}
xref: MESH:D004887 {source="MONDO:equivalentTo", source="DOID:0050061", source="MONDO:ontobio"}
xref: SCTID:400105005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1276801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006752 ! Erysipelothrix rhusiopathiae infectious disease
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:0050061"} ! primary bacterial infectious disease
property_value: exactMatch DOID:0050061
property_value: exactMatch http://identifiers.org/mesh/D004887
property_value: exactMatch http://identifiers.org/snomedct/400105005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276801

[Term]
id: MONDO:0000238
name: pestis minor
def: "a mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis." [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
comment: Editor note: consider obsoleting
synonym: "abortive plague" RELATED []
synonym: "ambulatory plague" EXACT [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
synonym: "larval plague" RELATED [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
synonym: "pestis minor" EXACT [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
xref: ICD9:020.8 {source="MONDO:relatedTo", source="i2s"}
xref: MEDGEN:546803 {source="UMLS:C0275757"}
xref: SCTID:186287003 {source="UMLS:C0275757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.36"}
xref: UMLS:C0275757 {source="MONDO:equivalentTo"}
is_a: MONDO:0001112 {source="DOID:0050068", source="MONDO:Redundant"} ! bubonic plague
property_value: closeMatch DOID:0050068
property_value: closeMatch http://identifiers.org/medgen/546803
property_value: exactMatch http://identifiers.org/snomedct/186287003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275757

[Term]
id: MONDO:0000239
name: adiaspiromycosis
def: "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." [https://doi.org/10.1016/j.rmedc.2011.04.004]
synonym: "adiaspiromycosis" EXACT [MONDO:cjm]
synonym: "adiaspirosis" EXACT [MONDO:cjm]
synonym: "haplosporangiosis" EXACT [MONDO:cjm]
synonym: "pulmonary adiaspiromycosis" EXACT [MONDO:cjm]
xref: DOID:0050072 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: MEDGEN:537148 {source="UMLS:C0259737"}
xref: SCTID:23892008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="UMLS:C0259737"}
xref: UMLS:C0259737 {source="MONDO:equivalentTo"}
is_a: MONDO:0000308 {source="DOID:0050072"} ! primary systemic mycosis
is_a: MONDO:0005766 ! fungal lung infectious disease
property_value: closeMatch http://identifiers.org/medgen/537148
property_value: exactMatch DOID:0050072
property_value: exactMatch http://identifiers.org/snomedct/23892008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259737

[Term]
id: MONDO:0000240
name: invasive aspergillosis
def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." [DOID:0050073, http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm]
xref: DOID:0050073 {source="MONDO:equivalentTo"}
xref: SCTID:721798004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238013 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000266 ! pulmonary aspergilloma
property_value: exactMatch DOID:0050073
property_value: exactMatch http://identifiers.org/snomedct/721798004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238013

[Term]
id: MONDO:0000241
name: Keshan disease
def: "a congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus." [https://en.wikipedia.org/wiki/Keshan_disease]
subset: gard_rare {source="GARD:0008761"}
synonym: "caused by deficiency of selenium in the diet" RELATED EXCLUDE [GARD:0008761]
synonym: "congestive cardiomyopathy due to selenium deficiency" RELATED [MONDO:cjm]
synonym: "enlarged heart and poor heart function" RELATED [GARD:0008761]
xref: DOID:0050083 {source="MONDO:equivalentTo"}
xref: GARD:0008761 {source="MONDO:equivalentTo"}
xref: ICD9:269.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536166 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:46939000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268095 {source="MONDO:equivalentTo", source="GARD:0008761"}
is_a: MONDO:0004994 {source="MESH:C536166", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiomyopathy
is_a: MONDO:0005721 ! coxsackievirus infectious disease
is_a: MONDO:0006873 {source="DOID:0050083", source="MONDO:Redundant", source="linkedlifedata"} ! nutritional deficiency disease
property_value: exactMatch DOID:0050083
property_value: exactMatch http://identifiers.org/mesh/C536166
property_value: exactMatch http://identifiers.org/snomedct/46939000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268095
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8761/keshan-disease xsd:anyURI {source="GARD:0008761"}

[Term]
id: MONDO:0000242
name: tinea barbae
def: "A dermatophytosis that involves the beard." [MONDO:patterns/location]
synonym: "beard dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "dermatophytosis of beard" EXACT []
synonym: "dermatophytosis of beard" RELATED [DOID:0050096]
xref: DOID:0050096 {source="MONDO:equivalentTo"}
xref: SCTID:399329002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2349994 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:0050096", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis
is_a: MONDO:0044987 ! face disease
property_value: exactMatch DOID:0050096
property_value: exactMatch http://identifiers.org/snomedct/399329002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2349994

[Term]
id: MONDO:0000243
name: ectothrix infectious disease
def: "A dermatophyte infection of the hair that infects the hair surface." [https://en.wikipedia.org/wiki/Exothrix]
xref: DOID:0050097 {source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:0050097/inferred", source="https://en.wikipedia.org/wiki/Exothrix"} ! dermatophytosis
property_value: exactMatch DOID:0050097

[Term]
id: MONDO:0000244
name: endothrix infectious disease
def: "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." [https://en.wikipedia.org/wiki/Endothrix]
xref: DOID:0050105 {source="MONDO:equivalentTo"}
is_a: MONDO:0000253 ! piedra
is_a: MONDO:0004678 {source="DOID:0050105/inferred", source="https://en.wikipedia.org/wiki/Endothrix"} ! dermatophytosis
property_value: exactMatch DOID:0050105

[Term]
id: MONDO:0000245
name: tinea imbricata
def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." [DOID:0050116, http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata]
xref: DOID:0050116 {source="MONDO:equivalentTo"}
xref: ICD10:B35.5 {source="MONDO:equivalentTo"}
xref: SCTID:240699006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040255 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001461 {source="DOID:0050116", source="linkedlifedata", source="linkedlifedata/inferred"} ! tinea corporis
property_value: exactMatch DOID:0050116
property_value: exactMatch http://identifiers.org/snomedct/240699006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040255

[Term]
id: MONDO:0000246
name: obsolete la Crosse encephalitis
is_obsolete: true
replaced_by: MONDO:0019378

[Term]
id: MONDO:0000247
name: obsolete hemophagocytic lymphohistiocytosis
def: "A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." [NCIT:C34792]
is_obsolete: true
replaced_by: MONDO:0015540

[Term]
id: MONDO:0000248
name: dengue shock syndrome
def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." [DOID:0050125, http://en.wikipedia.org/wiki/Dengue_shock_syndrome, http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645]
synonym: "DSS" EXACT [DOID:0050125]
xref: DOID:0050125 {source="MONDO:equivalentTo"}
xref: MESH:D019595 {source="MONDO:equivalentTo"}
xref: SCTID:409671005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0376300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005358 {source="MONDO:cjm", source="linkedlifedata"} ! Dengue hemorrhagic fever
property_value: exactMatch DOID:0050125
property_value: exactMatch http://identifiers.org/mesh/D019595
property_value: exactMatch http://identifiers.org/snomedct/409671005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376300

[Term]
id: MONDO:0000249
name: secretory diarrhea
def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [HP:0005208]
xref: DOID:0050129 {source="MONDO:equivalentTo"}
xref: HP:0005208 {source="MONDO:otherHierarchy"}
xref: SCTID:15699003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267557 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001673 {source="DOID:0050129", source="HP:0005208", source="linkedlifedata"} ! diarrheal disease
property_value: exactMatch DOID:0050129
property_value: exactMatch http://identifiers.org/snomedct/15699003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267557

[Term]
id: MONDO:0000250
name: osmotic diarrheal disease
def: "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "osmotic diarrhea" EXACT []
synonym: "permeability diarrhea" EXACT [MONDO:cjm]
xref: DOID:0050130 {source="MONDO:equivalentTo"}
xref: MEDGEN:540779 {source="UMLS:C0267556"}
xref: SCTID:2946003 {source="MONDO:equivalentTo", source="UMLS:C0267556", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267556 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0045030 {source="linkedlifedata"} ! non-infectious diarrheal disease
property_value: closeMatch http://identifiers.org/medgen/540779
property_value: exactMatch DOID:0050130
property_value: exactMatch http://identifiers.org/snomedct/2946003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267556

[Term]
id: MONDO:0000251
name: diarrheal disease secondary to altered bowel motility
def: "A diarrhea that results from either increased or decreased motility in the bowel." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "diarrhea secondary to altered bowel motility" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "motility-related diarrhea" EXACT []
is_a: MONDO:0001673 {source="DOID:0050131", source="MONDO:Redundant"} ! diarrheal disease

[Term]
id: MONDO:0000252
name: inflammatory diarrhea
def: "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: DOID:0050132 {source="MONDO:equivalentTo"}
xref: SCTID:95544006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.14"}
is_a: MONDO:0000888 ! gastrointestinal mucositis
is_a: MONDO:0001673 ! diarrheal disease
is_a: MONDO:0002269 ! gastroenteritis
property_value: exactMatch DOID:0050132
property_value: exactMatch http://identifiers.org/snomedct/95544006

[Term]
id: MONDO:0000253
name: piedra
def: "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species." [MESH:D010854]
synonym: "black piedra" NARROW [MESH:D010854]
synonym: "black Piedras" NARROW [MESH:D010854]
synonym: "hair shaft fungal infectious disease" EXACT [MONDO:patterns/location]
synonym: "piedra, black" NARROW [MESH:D010854]
synonym: "piedra, White" NARROW [MESH:D010854]
synonym: "Piedras" RELATED [MESH:D010854]
synonym: "Piedras, black" NARROW [MESH:D010854]
synonym: "Piedras, White" NARROW [MESH:D010854]
synonym: "steroid-modified tinea infection" NARROW [DOID:0050133]
synonym: "White piedra" NARROW [MESH:D010854]
synonym: "White Piedras" NARROW [MESH:D010854]
xref: MESH:D010854 {source="MONDO:equivalentTo"}
xref: SCTID:402135006 {source="MONDO:equivalentTo"}
xref: UMLS:C0031898 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002917 {source="MESH:D010854", source="MONDO:Entailed", source="MONDO:Redundant"} ! disease of pilosebaceous unit
is_a: MONDO:0024268 {source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902", source="linkedlifedata", source="linkedlifedata/inferred"} ! superficial mycosis
is_a: MONDO:0024481 ! skin appendage disease
property_value: exactMatch http://identifiers.org/mesh/D010854
property_value: exactMatch http://identifiers.org/snomedct/402135006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031898

[Term]
id: MONDO:0000254
name: cutaneous mycosis
def: "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:0050134 {source="MONDO:equivalentTo"}
xref: SCTID:14560005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="DOID:0050134", source="MONDO:Redundant", source="MONDOLEX:0000254"} ! fungal infectious disease
is_a: MONDO:0002051 ! integumentary system disease
relationship: has_modifier MONDO:0045042 ! localized
property_value: exactMatch DOID:0050134
property_value: exactMatch http://identifiers.org/snomedct/14560005

[Term]
id: MONDO:0000255
name: subcutaneous mycosis
def: "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "subcutaneous mycosis" EXACT []
xref: DOID:0050135 {source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
property_value: exactMatch DOID:0050135

[Term]
id: MONDO:0000256
name: systemic mycosis
def: "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "systemic fungal infection" RELATED [MONDO:cjm]
xref: DOID:0050136 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:399314004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0553576 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="DOID:0050136", source="MONDO:Redundant", source="MONDOLEX:0000256", source="linkedlifedata"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: has_modifier MONDO:0022202 ! disseminated
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: exactMatch DOID:0050136
property_value: exactMatch http://identifiers.org/snomedct/399314004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553576

[Term]
id: MONDO:0000257
name: acute diarrhea
def: "Acute form of diarrhea." [MONDO:patterns/acute]
synonym: "acute diarrheal disease" EXACT [MONDO:design_pattern]
synonym: "diarrhea (disease), acute" EXACT [MONDO:patterns/acute]
synonym: "diarrhea, acute" EXACT [MONDO:patterns/acute]
synonym: "diarrheal disease, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: DOID:0050140 {source="MONDO:equivalentTo"}
xref: SCTID:409966000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0740441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001673 {source="DOID:0050140", source="MONDO:Redundant", source="linkedlifedata"} ! diarrheal disease
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:0050140
property_value: exactMatch http://identifiers.org/snomedct/409966000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740441

[Term]
id: MONDO:0000258
name: obsolete intestinal botulism
is_obsolete: true
replaced_by: MONDO:0015805

[Term]
id: MONDO:0000259
name: asymptomatic dengue
xref: DOID:0050143 {source="MONDO:equivalentTo"}
is_a: MONDO:0005502 ! dengue disease
property_value: exactMatch DOID:0050143

[Term]
id: MONDO:0000260
name: obsolete Kartagener syndrome
is_obsolete: true
replaced_by: MONDO:0016575

[Term]
id: MONDO:0000261
name: adenoiditis
def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chronic adenoiditis" NARROW [DOID:0050145]
synonym: "inflammation of pharyngeal tonsil" EXACT []
synonym: "pharyngeal tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pharyngeal tonsilitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:439851 {source="MONDO:equivalentTo"}
xref: DOID:0050145 {source="MONDO:equivalentTo"}
xref: ICD10:J35.02 {source="DOID:0050145", source="MONDO:equivalentTo"}
xref: ICD9:474.01 {source="DOID:0050145"}
xref: SCTID:70020005 {source="MONDO:kboom-pr-0.91/0.67/1.53", source="MONDO:equivalentTo"}
xref: UMLS:C0001427 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0396023 {source="DOID:0050145", source="MONDO:equivalentTo"}
is_a: MONDO:0001039 ! tonsillitis
is_a: MONDO:0001040 ! nasopharyngitis
property_value: closeMatch http://identifiers.org/snomedct/195794009
property_value: closeMatch http://identifiers.org/snomedct/232420002
property_value: exactMatch DOID:0050145
property_value: exactMatch http://identifiers.org/snomedct/70020005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0396023

[Term]
id: MONDO:0000262
name: otomycosis
def: "Fungus infection of the external ear, usually by aspergillus species" [MESH:D059249]
synonym: "external ear fungal infectious disease" EXACT [MONDO:patterns/location]
synonym: "otitis mycotic externa" RELATED [MONDO:cjm]
synonym: "Singapore ear" RELATED [DOID:0050147]
xref: DOID:0050147 {source="MONDO:equivalentTo"}
xref: ICD9:111.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D059249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:53316003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0029895 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
is_a: MONDO:0004795 {source="DOID:0050147", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis externa
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch DOID:0050147
property_value: exactMatch http://identifiers.org/mesh/D059249
property_value: exactMatch http://identifiers.org/snomedct/53316003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029895

[Term]
id: MONDO:0000263
name: laryngotracheitis
def: "An inflammation of both larynx and trachea." [MONDO:patterns]
xref: DOID:0050148 {source="MONDO:equivalentTo"}
xref: ICD10:J04 {source="DOID:0050148"}
xref: ICD10:J04.2 {source="DOID:0050148"}
xref: ICD10:J37.1 {source="DOID:0050148"}
xref: ICD9:464 {source="DOID:0050148"}
xref: ICD9:464.2 {source="DOID:0050148"}
xref: ICD9:476.1 {source="DOID:0050148"}
xref: SCTID:55130001 {source="UMLS:C0023076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0023076 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002647 ! laryngitis
is_a: MONDO:0005990 ! tracheitis
property_value: closeMatch http://identifiers.org/snomedct/155505008
property_value: closeMatch http://identifiers.org/snomedct/155508005
property_value: closeMatch http://identifiers.org/snomedct/195679003
property_value: closeMatch http://identifiers.org/snomedct/195694004
property_value: closeMatch http://identifiers.org/snomedct/195697006
property_value: closeMatch http://identifiers.org/snomedct/195703007
property_value: closeMatch http://identifiers.org/snomedct/276443001
property_value: closeMatch http://identifiers.org/snomedct/64375000
property_value: closeMatch http://identifiers.org/snomedct/83271005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155811
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155837
property_value: exactMatch DOID:0050148
property_value: exactMatch http://identifiers.org/snomedct/55130001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023076

[Term]
id: MONDO:0000264
name: obsolete Pontiac fever
is_obsolete: true
replaced_by: MONDO:0020487

[Term]
id: MONDO:0000265
name: aspiration pneumonia (disease)
def: "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." [MESH:D011015]
synonym: "acid aspiration syndrome" EXACT [MESH:D011015]
synonym: "acid aspiration syndromes" EXACT [MESH:D011015]
synonym: "aspiration pneumonia" EXACT [MESH:D011015, MONDO:ambiguous]
synonym: "aspiration Pneumonias" EXACT [MESH:D011015]
synonym: "gastric acid aspiration syndrome" EXACT [MESH:D011015]
synonym: "inhalation pneumonia" RELATED [MONDO:cjm]
synonym: "Mendelson syndrome" EXACT [MESH:D011015]
synonym: "Mendelson's syndrome" EXACT [MESH:D011015]
synonym: "Mendelsons syndrome" EXACT [MESH:D011015]
synonym: "Pneumonias, aspiration" EXACT [MESH:D011015]
synonym: "syndrome, acid aspiration" EXACT [MESH:D011015]
synonym: "syndrome, Mendelson" EXACT [MESH:D011015]
synonym: "syndrome, Mendelson's" EXACT [MESH:D011015]
synonym: "syndromes, acid aspiration" EXACT [MESH:D011015]
xref: DOID:0050152 {source="MONDO:equivalentTo"}
xref: HP:0011951 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J69.0 {source="DOID:0050152"}
xref: MESH:D011015 {source="MONDO:equivalentTo", source="DOID:0050152"}
xref: SCTID:422588002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.10", source="DOID:0050152"}
xref: UMLS:C0032290 {source="MONDO:equivalentTo", source="DOID:0050152", source="MEDGEN:kboom-pr96-c96"}
xref: UMLS:C0085740 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0005249 {source="DOID:0050152/inferred", source="MESH:D011015", source="linkedlifedata"} ! pneumonia
property_value: closeMatch http://identifiers.org/snomedct/47839005
property_value: exactMatch DOID:0050152
property_value: exactMatch http://identifiers.org/mesh/D011015
property_value: exactMatch http://identifiers.org/snomedct/422588002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085740

[Term]
id: MONDO:0000266
name: pulmonary aspergilloma
def: "A aspergillosis that involves the lung." [MONDO:patterns/location]
synonym: "lung aspergillosis" EXACT [MONDO:patterns/location]
xref: DOID:0050153 {source="MONDO:equivalentTo"}
xref: MESH:D055732 {source="MONDO:equivalentTo"}
xref: UMLS:C2350529 {source="MONDO:equivalentTo"}
is_a: MONDO:0005657 ! aspergillosis
is_a: MONDO:0005766 ! fungal lung infectious disease
property_value: exactMatch DOID:0050153
property_value: exactMatch http://identifiers.org/mesh/D055732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2350529

[Term]
id: MONDO:0000267
name: obsolete cryptogenic organizing pneumonia
is_obsolete: true
replaced_by: MONDO:0015264

[Term]
id: MONDO:0000268
name: obsolete lymphoid interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0009537

[Term]
id: MONDO:0000269
name: obsolete inhalation anthrax
is_obsolete: true
replaced_by: MONDO:0016595

[Term]
id: MONDO:0000270
name: lower respiratory tract disease
def: "A disease involving the lower respiratory tract." [MONDO:DesignPattern]
synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lower respiratory tract" EXACT []
synonym: "disorder of lower respiratory system" EXACT []
synonym: "disorder of lower respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lower respiratory tract" RELATED [MONDO:patterns/location_top]
synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location]
synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050161 {source="MONDO:equivalentTo"}
xref: ICD9:478.1 {source="DOID:0050161"}
xref: ICD9:478.19 {source="DOID:0050161"}
xref: SCTID:128272009 {source="MONDO:equivalentTo"}
xref: UMLS:C1290325 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="DOID:0050161", source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system disease
property_value: closeMatch http://identifiers.org/snomedct/195823002
property_value: closeMatch http://identifiers.org/snomedct/266346007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029581
property_value: exactMatch DOID:0050161
property_value: exactMatch http://identifiers.org/snomedct/128272009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290325

[Term]
id: MONDO:0000271
name: tuberculous salpingitis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "fallopian tube tuberculosis" RELATED [MONDO:cjm]
xref: DOID:0050166 {source="MONDO:equivalentTo"}
xref: ICD10:A18.17 {source="DOID:0050166"}
xref: ICD9:016.6 {source="DOID:0050166"}
xref: ICD9:016.60 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:49558004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0275933 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003619 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! salpingitis
is_a: MONDO:0006002 {source="DOID:0050166", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/186242002
property_value: closeMatch http://identifiers.org/snomedct/186243007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152828
property_value: exactMatch DOID:0050166
property_value: exactMatch http://identifiers.org/snomedct/49558004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275933

[Term]
id: MONDO:0000272
name: obsolete autoimmune polyendocrine syndrome type 2
is_obsolete: true
replaced_by: MONDO:0010012

[Term]
id: MONDO:0000273
name: Kunjin virus infectous disease
synonym: "Kunjin encephalitis" EXACT [DOID:0050174]
xref: DOID:0050174 {source="MONDO:equivalentTo"}
is_a: MONDO:0019376 {source="DOID:0050174"} ! West-Nile encephalitis
property_value: exactMatch DOID:0050174

[Term]
id: MONDO:0000274
name: obsolete tick-borne encephalitis
is_obsolete: true
replaced_by: MONDO:0017572

[Term]
id: MONDO:0000275
name: obsolete monogenic disease
def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls, DOID:0050177]
xref: DOID:0050177 {source="MONDO:equivalentTo"}
property_value: exactMatch DOID:0050177
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1758 xsd:string
is_obsolete: true
consider: MONDO:0003847

[Term]
id: MONDO:0000276
name: Powassan encephalitis
def: "A disease caused by infection with Powassan virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "encephalitis, powassan" RELATED [MONDO:cjm]
synonym: "powassan encephalitis virus infection" EXACT [MONDO:cjm]
synonym: "Powassan virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Powassan virus disease or disorder" EXACT []
synonym: "Powassan virus infectious disease" EXACT []
xref: DOID:0050179 {source="MONDO:equivalentTo"}
xref: ICD9:063.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:416707008 {source="MONDO:equivalentTo"}
xref: UMLS:C0032858 {source="MONDO:equivalentTo"}
xref: UMLS:C1563215 {source="MONDO:equivalentTo"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0006009 ! viral encephalitis
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: exactMatch DOID:0050179
property_value: exactMatch http://identifiers.org/snomedct/416707008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563215

[Term]
id: MONDO:0000277
name: obsolete Argentine hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017874

[Term]
id: MONDO:0000278
name: obsolete Bolivian hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017875

[Term]
id: MONDO:0000279
name: obsolete Venezuelan hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017876

[Term]
id: MONDO:0000280
name: obsolete Brazilian hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017877

[Term]
id: MONDO:0000281
name: obsolete Chapare hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017878

[Term]
id: MONDO:0000282
name: Whitewater Arroyo hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations." [DOID:0050199, http://jama.ama-assn.org/cgi/content/full/284/10/1237, http://www.ncbi.nlm.nih.gov/sites/entrez/1799746]
xref: DOID:0050199 {source="MONDO:equivalentTo"}
is_a: MONDO:0005650 ! Arenaviridae infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050199

[Term]
id: MONDO:0000283
name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type
synonym: "Korean hemorrhagic fever" RELATED [DOID:0050200]
xref: DOID:0050200 {source="MONDO:equivalentTo"}
is_a: MONDO:0005784 {source="DOID:0050200", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050200

[Term]
id: MONDO:0000284
name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type
synonym: "nephropathia epidemica" RELATED [DOID:0050201]
synonym: "nephropathis epidemica" EXACT [https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome]
xref: DOID:0050201 {source="MONDO:equivalentTo"}
xref: UMLS:C0242993 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005784 {source="DOID:0050201", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242993

[Term]
id: MONDO:0000285
name: obsolete lujo hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017872

[Term]
id: MONDO:0000286
name: Epstein-Barr virus hepatitis
def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice." [DOID:0050204, PMID:16711324, PMID:17602362]
xref: DOID:0050204 {source="MONDO:equivalentTo"}
xref: SCTID:302919001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.18"}
xref: UMLS:C0554114 {source="MONDO:equivalentTo"}
is_a: MONDO:0005111 ! Epstein-Barr virus infection
is_a: MONDO:0006011 {source="DOID:0050204", source="MONDO:Redundant", source="linkedlifedata"} ! viral hepatitis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch DOID:0050204
property_value: exactMatch http://identifiers.org/snomedct/302919001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0554114

[Term]
id: MONDO:0000287
name: obsolete Lambert-Eaton myasthenic syndrome
is_obsolete: true
replaced_by: MONDO:0018556

[Term]
id: MONDO:0000288
name: polycystic echinococcosis
synonym: "human polycystic hydatid disease" EXACT [DOID:0050218, https://en.wikipedia.org/wiki/Echinococcosis]
synonym: "neotropical echinococcosis" EXACT [DOID:0050218, https://en.wikipedia.org/wiki/Echinococcosis]
xref: DOID:0050218 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
is_a: MONDO:0005738 {source="DOID:0050218", source="MONDO:Redundant"} ! echinococcosis
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:0050218

[Term]
id: MONDO:0000289
name: obsolete selective IgM deficiency disease
is_obsolete: true
replaced_by: MONDO:0018039

[Term]
id: MONDO:0000290
name: primary amebic meningoencephalitis
def: "A infectious disease involving the Naegleria fowleri." [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Naegleria fowleri" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Naegleria fowleri infection" EXACT [DOID:0050242, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:0050242 {source="MONDO:equivalentTo"}
xref: GARD:0009554 {source="MONDO:equivalentTo"}
xref: MESH:C535275 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:721816008 {source="MONDO:kboom-pr-1.00/0.79/7.89", source="MONDO:equivalentTo"}
xref: UMLS:C0300934 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C4303098 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="DOID:0050242", source="MESH:C535275/inferred"} ! protozoa infectious disease
is_a: MONDO:0020067 ! infectious encephalitis
property_value: exactMatch DOID:0050242
property_value: exactMatch http://identifiers.org/mesh/C535275
property_value: exactMatch http://identifiers.org/snomedct/721816008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0300934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303098

[Term]
id: MONDO:0000291
name: granulomatous amebic encephalitis
def: "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp ., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." [https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis]
subset: gard_rare {source="GARD:0012651"}
synonym: "Acanthamoeba encephalitis" RELATED [DOID:0050246]
synonym: "Acanthamoeba granulomatous encephalitis" RELATED [DOID:0050246]
synonym: "granulomatous amebic encephalitis due to Acanthamoeba" RELATED [DOID:0050246]
synonym: "granulomatous amoebic encephalitis" EXACT [DOID:0050246]
xref: DOID:0050246 {source="MONDO:equivalentTo"}
xref: GARD:0012651 {source="MONDO:equivalentTo"}
xref: ICD9:323.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:230187000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="DOID:0050246"} ! protozoa infectious disease
is_a: MONDO:0020067 ! infectious encephalitis
is_a: MONDO:0021747 ! Acanthamoeba infectious disease
property_value: exactMatch DOID:0050246
property_value: exactMatch http://identifiers.org/snomedct/230187000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338428
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis xsd:anyURI {source="GARD:0012651"}

[Term]
id: MONDO:0000292
name: philophthalmiasis
def: "A disease caused by infection with Philophthalmus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Philophthalmus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Philophthalmus disease or disorder" EXACT []
synonym: "Philophthalmus infectious disease" EXACT []
xref: DOID:0050250 {source="MONDO:equivalentTo"}
is_a: MONDO:0005739 ! echinostomiasis
property_value: exactMatch DOID:0050250

[Term]
id: MONDO:0000293
name: coenurosis
def: "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs." [https://en.wikipedia.org/wiki/Coenurosis]
synonym: "caenurosis" EXACT [https://en.wikipedia.org/wiki/Coenurosis]
synonym: "coenuriasis" EXACT []
synonym: "coenurosis" EXACT []
synonym: "infection by larvae of multiceps" RELATED []
synonym: "infection by tapeworm larva" RELATED []
synonym: "sturdy" RELATED [https://en.wikipedia.org/wiki/Coenurosis]
xref: DOID:0050251 {source="MONDO:equivalentTo"}
xref: ICD9:123.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:24360007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0009225 {source="MONDO:equivalentTo"}
is_a: MONDO:0000367 ! taeniasis
property_value: exactMatch DOID:0050251
property_value: exactMatch http://identifiers.org/snomedct/24360007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009225

[Term]
id: MONDO:0000294
name: mesocestoidiasis
def: "An disease or disorder caused by infection with Mesocestoides." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "infection by Mesocestoides" EXACT []
synonym: "infection caused by Mesocestoides" RELATED []
synonym: "Mesocestoides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mesocestoides disease or disorder" EXACT []
synonym: "Mesocestoides infectious disease" EXACT []
xref: DOID:0050253 {source="MONDO:equivalentTo"}
xref: SCTID:85750001 {source="MONDO:equivalentTo"}
xref: UMLS:C0277108 {source="MONDO:equivalentTo"}
xref: UMLS:C0277110 {source="MONDO:equivalentTo"}
is_a: MONDO:0042488 ! Cestode infectious disease
property_value: exactMatch DOID:0050253
property_value: exactMatch http://identifiers.org/snomedct/85750001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277110

[Term]
id: MONDO:0000295
name: acanthocephaliasis
def: "An disease or disorder caused by infection with Acanthocephala." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acanthocephala caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acanthocephala disease or disorder" EXACT []
synonym: "Acanthocephala infectious disease" EXACT []
synonym: "disease caused by Acanthocephala" EXACT []
synonym: "disease due to Acanthocephala" EXACT []
synonym: "infection by Acanthocephala" EXACT []
synonym: "infection by thorny-headed worm" EXACT []
xref: DOID:0050254 {source="MONDO:equivalentTo"}
xref: SCTID:105713003 {source="MONDO:equivalentTo"}
xref: UMLS:C0277331 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:0050254"} ! helminthiasis
property_value: exactMatch DOID:0050254
property_value: exactMatch http://identifiers.org/snomedct/105713003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277331

[Term]
id: MONDO:0000296
name: obsolete angiostrongyliasis
is_obsolete: true
replaced_by: MONDO:0019143

[Term]
id: MONDO:0000297
name: baylisascariasis
def: "An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses." [NCIT:C128397]
synonym: "Baylisascaris procyonis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Baylisascaris procyonis disease or disorder" EXACT []
synonym: "Baylisascaris procyonis infectious disease" EXACT []
synonym: "raccoon roundworm infection" EXACT [NCIT:C128397]
xref: DOID:0050259 {source="MONDO:equivalentTo"}
xref: NCIT:C128397 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0162626 {source="MONDO:equivalentTo"}
xref: UMLS:C0277150 {source="MONDO:equivalentTo"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
property_value: exactMatch DOID:0050259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277150
property_value: exactMatch NCIT:C128397

[Term]
id: MONDO:0000298
name: dioctophymiasis
def: "A disease caused by infection with Dioctophyme renale." [MONDO:patterns/infectious_disease_by_agent]
synonym: "dioctophyma renale infection" RELATED []
synonym: "Dioctophyme renale caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dioctophyme renale disease or disorder" EXACT []
synonym: "Dioctophyme renale infection" EXACT []
synonym: "Dioctophyme renale infectious disease" EXACT []
synonym: "dioctophymosis" RELATED []
synonym: "giant kidney worm disease" RELATED []
xref: DOID:0050260 {source="MONDO:equivalentTo"}
xref: SCTID:40410004 {source="MONDO:equivalentTo"}
xref: UMLS:C0012482 {source="MONDO:equivalentTo"}
is_a: MONDO:0005745 ! Enoplea infectious disease
property_value: exactMatch DOID:0050260
property_value: exactMatch http://identifiers.org/snomedct/40410004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012482

[Term]
id: MONDO:0000299
name: thelaziasis
def: "A disease caused by infection with Thelazia." [MONDO:patterns/infectious_disease_by_agent]
synonym: "conjunctival spirurosis" RELATED []
synonym: "infection by Thelazia" EXACT []
synonym: "infection caused by Thelazia" RELATED []
synonym: "Thelazia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Thelazia disease or disorder" EXACT []
synonym: "Thelazia infectious disease" EXACT []
synonym: "thelaziasis" EXACT []
synonym: "thelaziosis" RELATED []
synonym: "verminous ophthalmia" RELATED []
xref: DOID:0050261 {source="MONDO:equivalentTo"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:46477004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"}
xref: UMLS:C0344058 {source="MONDO:equivalentTo"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
property_value: exactMatch DOID:0050261
property_value: exactMatch http://identifiers.org/snomedct/46477004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344058

[Term]
id: MONDO:0000300
name: obsolete tungiasis
is_obsolete: true
replaced_by: MONDO:0019498

[Term]
id: MONDO:0000301
name: ophthalmomyiasis
def: "An myiasis caused by infection with Oestrus ovis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oestrus ovis caused myiasis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oestrus ovis myiasis" EXACT []
synonym: "ophthalmic myiasis" EXACT []
synonym: "ophthalmomyiasis" EXACT []
xref: DOID:0050268 {source="MONDO:equivalentTo"}
xref: SCTID:48216006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.42"}
xref: UMLS:C0027034 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005805 ! hypodermyiasis
property_value: exactMatch DOID:0050268
property_value: exactMatch http://identifiers.org/snomedct/48216006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027034

[Term]
id: MONDO:0000302
name: basidiobolomycosis
def: "A disease caused by infection with Basidiobolus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "basidiobolomycosis" EXACT [UMLS:C0343965]
synonym: "Basidiobolus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Basidiobolus disease or disorder" EXACT []
synonym: "Basidiobolus infectious disease" EXACT []
synonym: "infection by Basidiobolus" EXACT [UMLS:C0343965]
synonym: "infection caused by Basidiobolus" EXACT [UMLS:C0343965]
xref: DOID:0050278 {source="MONDO:equivalentTo"}
xref: MEDGEN:575966 {source="UMLS:C0343965"}
xref: SCTID:4921002 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo", source="UMLS:C0343965"}
xref: UMLS:C0343965 {source="MONDO:equivalentTo"}
is_a: MONDO:0019136 {source="https://en.wikipedia.org/wiki/Basidiobolomycosis", source="linkedlifedata"} ! Zygomycosis
relationship: excluded_subClassOf MONDO:0000255 {source="DOID:0050278"} ! subcutaneous mycosis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:0050278"} ! skin disease
property_value: closeMatch http://identifiers.org/medgen/575966
property_value: exactMatch DOID:0050278
property_value: exactMatch http://identifiers.org/snomedct/4921002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343965

[Term]
id: MONDO:0000303
name: conidiobolomycosis
synonym: "Conidiobolus infectious disease" EXACT []
synonym: "infection by Conidiobolus" EXACT []
synonym: "rhinoentomophthoromycosis" RELATED []
xref: DOID:0050279 {source="MONDO:equivalentTo"}
xref: ICD9:111.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:240783007 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo"}
xref: UMLS:C0276712 {source="MONDO:equivalentTo"}
is_a: MONDO:0000255 {source="DOID:0050279", source="MONDO:Entailed", source="MONDO:Redundant"} ! subcutaneous mycosis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch DOID:0050279
property_value: exactMatch http://identifiers.org/snomedct/240783007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276712

[Term]
id: MONDO:0000304
name: penicilliosis
def: "A disease caused by infection with Talaromyces marneffei." [MONDO:patterns/infectious_disease_by_agent]
synonym: "infection caused by Penicillium marneffei" EXACT []
synonym: "infection caused by Talaromyces marneffei" EXACT []
synonym: "infection due to Penicillium marneffei" EXACT []
synonym: "Penicillium marneffei infectious disease" EXACT []
synonym: "Talaromyces marneffei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Talaromyces marneffei disease or disorder" EXACT []
synonym: "Talaromyces marneffei infectious disease" EXACT []
xref: DOID:0050288 {source="MONDO:equivalentTo"}
xref: SCTID:372936000 {source="MONDO:equivalentTo"}
xref: SCTID:713315007 {source="MONDO:equivalentTo"}
xref: UMLS:C1274008 {source="MONDO:equivalentTo"}
is_a: MONDO:0045033 ! opportunistic systemic mycosis
property_value: exactMatch DOID:0050288
property_value: exactMatch http://identifiers.org/snomedct/372936000
property_value: exactMatch http://identifiers.org/snomedct/713315007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274008

[Term]
id: MONDO:0000305
name: obsolete fusariosis
is_obsolete: true
replaced_by: MONDO:0016426

[Term]
id: MONDO:0000306
name: trichosporonosis
def: "Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs." [MESH:D060586]
synonym: "Trichosporon caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichosporon disease or disorder" EXACT []
synonym: "Trichosporon infectious disease" EXACT []
xref: DOID:0050290 {source="MONDO:equivalentTo"}
xref: MESH:D060586 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:240761008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0343939 {source="MONDO:equivalentTo"}
is_a: MONDO:0045033 ! opportunistic systemic mycosis
property_value: exactMatch DOID:0050290
property_value: exactMatch http://identifiers.org/mesh/D060586
property_value: exactMatch http://identifiers.org/snomedct/240761008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343939

[Term]
id: MONDO:0000307
name: parasitic Ichthyosporea infectious disease
def: "A disease caused by infection with Ichthyosporea." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Ichthyosporea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ichthyosporea disease or disorder" EXACT []
synonym: "Ichthyosporea infectious disease" EXACT []
xref: DOID:0050291 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="DOID:0050291"} ! parasitic infection
property_value: exactMatch DOID:0050291

[Term]
id: MONDO:0000308
name: primary systemic mycosis
def: "A systemic mycosis that arises from infection in an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:0050292 {source="MONDO:equivalentTo"}
is_a: MONDO:0000256 {source="DOID:0050292", source="MONDO:Redundant", source="MONDOLEX:0000308"} ! systemic mycosis
intersection_of: MONDO:0000256 ! systemic mycosis
intersection_of: has_modifier MONDO:0045036 ! primary infectious
disjoint_from: MONDO:0002312 ! opportunistic mycosis
relationship: has_modifier MONDO:0045036 ! primary infectious
property_value: exactMatch DOID:0050292

[Term]
id: MONDO:0000309
name: aniseikonia
def: "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." [MESH:D000839]
xref: DOID:0050304 {source="MONDO:equivalentTo"}
xref: EFO:1001266 {source="MONDO:equivalentTo"}
xref: ICD10:H52.32 {source="MONDO:equivalentTo"}
xref: ICD9:367.32 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000839 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:16059006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0004892 {source="DOID:0050304", source="MESH:D000839", source="linkedlifedata"} ! refractive error
property_value: exactMatch DOID:0050304
property_value: exactMatch http://identifiers.org/mesh/D000839
property_value: exactMatch http://identifiers.org/snomedct/16059006

[Term]
id: MONDO:0000310
name: Alkhurma hemorrhagic fever
def: "A disease caused by infection with Alkhumra hemorrhagic fever virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Alkhumra hemorrhagic fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Alkhumra hemorrhagic fever virus disease or disorder" EXACT []
synonym: "Alkhumra hemorrhagic fever virus infectious disease" EXACT []
xref: DOID:0050308 {source="MONDO:equivalentTo"}
is_a: MONDO:0017881 {source="DOID:0050308", source="MONDO:Redundant"} ! Kyasanur forest disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050308

[Term]
id: MONDO:0000311
name: obsolete congenital hypothyroidism
is_obsolete: true
replaced_by: MONDO:0018612

[Term]
id: MONDO:0000312
name: obsolete enlarged vestibular aqueduct
is_obsolete: true
replaced_by: MONDO:0023069

[Term]
id: MONDO:0000313
name: hypophosphatemia (disease)
def: "Lower than normal levels of phosphates in the circulating blood." [NCIT:C37977]
synonym: "hypophosphatemia" EXACT [MONDO:ambiguous]
xref: DOID:0050336 {source="MONDO:equivalentTo"}
xref: HP:0002148 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D017674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C37977 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy"}
xref: SCTID:4996001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0085682 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002319 {source="DOID:0050336", source="MESH:D017674", source="MONDO:Redundant", source="linkedlifedata"} ! phosphorus metabolism disease
property_value: exactMatch DOID:0050336
property_value: exactMatch http://identifiers.org/mesh/D017674
property_value: exactMatch http://identifiers.org/snomedct/4996001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085682
property_value: exactMatch NCIT:C37977

[Term]
id: MONDO:0000314
name: primary bacterial infectious disease
xref: DOID:0050338 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050338", source="MONDO:Redundant", source="MONDOLEX:0000314"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: has_modifier MONDO:0045036 ! primary infectious
relationship: has_modifier MONDO:0045036 ! primary infectious
property_value: exactMatch DOID:0050338

[Term]
id: MONDO:0000315
name: commensal bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [DOID:0050339, http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false]
comment: Editor note: TODO
synonym: "opportunistic bacterial infectious disease" EXACT []
xref: DOID:0050339 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050339", source="MONDOLEX:0000315"} ! bacterial infectious disease
property_value: exactMatch DOID:0050339

[Term]
id: MONDO:0000316
name: opportunistic bacterial infectious disease
xref: DOID:0050340 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050340", source="MONDO:Redundant", source="MONDOLEX:0000316"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious
relationship: has_modifier MONDO:0045035 ! opportunistic infectious
property_value: exactMatch DOID:0050340

[Term]
id: MONDO:0000317
name: obsolete foodborne botulism
is_obsolete: true
replaced_by: MONDO:0016453

[Term]
id: MONDO:0000318
name: obsolete wound botulism
is_obsolete: true
replaced_by: MONDO:0015803

[Term]
id: MONDO:0000319
name: obsolete infant botulism
is_obsolete: true
replaced_by: MONDO:0015804

[Term]
id: MONDO:0000320
name: glandular tularemia
def: "A tularemia that involves the lymph node." [MONDO:patterns/location]
synonym: "lymph node tularemia" EXACT [MONDO:patterns/location]
xref: DOID:0050382 {source="MONDO:equivalentTo"}
xref: SCTID:21857006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0275974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004928 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! lymph node disease
is_a: MONDO:0018077 {source="DOID:0050382", source="MONDO:Redundant", source="linkedlifedata"} ! tularemia
property_value: exactMatch DOID:0050382
property_value: exactMatch http://identifiers.org/snomedct/21857006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275974

[Term]
id: MONDO:0000321
name: typhoidal tularemia
def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss." [DOID:0050383, http://emedicine.medscape.com/article/230923-clinical]
xref: DOID:0050383 {source="MONDO:equivalentTo"}
xref: SCTID:398554008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0473876 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018077 {source="DOID:0050383", source="linkedlifedata"} ! tularemia
property_value: exactMatch DOID:0050383
property_value: exactMatch http://identifiers.org/snomedct/398554008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473876

[Term]
id: MONDO:0000322
name: obsolete Carrion disease
def: "A disease caused by infection with Bartonella bacilliformis." [MONDO:patterns/infectious_disease_by_agent]
is_obsolete: true
replaced_by: MONDO:0018984

[Term]
id: MONDO:0000323
name: obsolete familial adenomatous polyposis
is_obsolete: true
replaced_by: MONDO:0008279

[Term]
id: MONDO:0000324
name: obsolete familial partial lipodystrophy
is_obsolete: true
replaced_by: MONDO:0020088

[Term]
id: MONDO:0000325
name: obsolete pachyonychia congenita
is_obsolete: true
replaced_by: MONDO:0016471

[Term]
id: MONDO:0000326
name: obsolete lissencephaly
is_obsolete: true
replaced_by: MONDO:0018838

[Term]
id: MONDO:0000327
name: Buruli ulcer disease
def: "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." [NCIT:P378]
synonym: "Bairnsdale ulcer" EXACT [DOID:0050456]
synonym: "Buruli ulcer" EXACT [NCIT:C84604]
synonym: "Daintree ulcer" EXACT [DOID:0050456]
synonym: "Mossman ulcer" EXACT [DOID:0050456]
synonym: "Mycobacterium ulcerans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium ulcerans disease or disorder" EXACT []
synonym: "Mycobacterium ulcerans infectious disease" EXACT []
synonym: "Searl ulcer" EXACT [DOID:0050456]
synonym: "Searle's ulcer" EXACT [DOID:0050456]
xref: DOID:0050456 {source="MONDO:equivalentTo"}
xref: EFO:1001281 {source="MONDO:equivalentTo"}
xref: ICD10:A31.1 {source="DOID:0050456"}
xref: MESH:D054312 {source="DOID:0050456", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84604 {source="DOID:0050456", source="MONDO:equivalentTo"}
xref: SCTID:15845006 {source="DOID:0050456", source="MONDO:equivalentTo"}
xref: UMLS:C0085568 {source="DOID:0050456", source="NCIT:C84604", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:0050456"} ! primary bacterial infectious disease
is_a: MONDO:0020590 ! mycobacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186343005
property_value: exactMatch DOID:0050456
property_value: exactMatch http://identifiers.org/mesh/D054312
property_value: exactMatch http://identifiers.org/snomedct/15845006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085568
property_value: exactMatch NCIT:C84604

[Term]
id: MONDO:0000328
name: hyperphosphatemia (disease)
def: "Abnormally high level of phosphate in the blood." [NCIT:P378]
synonym: "hyperphosphatemia" EXACT [MONDO:ambiguous]
xref: DOID:0050459 {source="MONDO:equivalentTo"}
xref: HP:0002905 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D054559 {source="MONDO:equivalentTo", source="DOID:0050459", source="MONDO:ontobio"}
xref: SCTID:20165001 {source="MONDO:equivalentTo", source="DOID:0050459", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0085681 {source="MONDO:equivalentTo", source="DOID:0050459"}
is_a: MONDO:0002319 {source="DOID:0050459", source="MESH:D054559", source="MONDO:Redundant", source="linkedlifedata"} ! phosphorus metabolism disease
property_value: exactMatch DOID:0050459
property_value: exactMatch http://identifiers.org/mesh/D054559
property_value: exactMatch http://identifiers.org/snomedct/20165001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085681
property_value: exactMatch NCIT:C113750

[Term]
id: MONDO:0000329
name: obsolete epidemic typhus
is_obsolete: true
replaced_by: MONDO:0019362

[Term]
id: MONDO:0000330
name: endemic typhus
def: "A bacterial infection caused by Rickettsia typhi." [https://en.wikipedia.org/wiki/Murine_typhus, https://www.cdc.gov/typhus/murine/index.html]
subset: ordo_disease {source="Orphanet:83315"}
synonym: "cat flea rickettsiosis" EXACT [DOID:0050481]
synonym: "endemic flea-borne typhus" EXACT [NCIT:C84688]
synonym: "endemic typhus Fever" EXACT [NCIT:C84688]
synonym: "endemic typhus Fever" RELATED [NCIT:C84688]
synonym: "fleaborne typhus" EXACT [DOID:0050481]
synonym: "murine typhus" EXACT [DOID:0050481, https://en.wikipedia.org/wiki/Murine_typhus]
synonym: "rat-flea typhus" EXACT [DOID:0050481]
synonym: "Rickettsia felis spotted fever" EXACT [DOID:0050481]
synonym: "shop typhus" RELATED [DOID:0050481]
synonym: "toulon typhus" EXACT [DOID:0050481]
synonym: "urban typhus" EXACT [DOID:0050481]
synonym: "urban typhus of Malaya" EXACT [DOID:0050481]
xref: DOID:0050481 {source="MONDO:equivalentTo"}
xref: ICD10:A75.2 {source="ORDO:83315/e", source="Orphanet:83315"}
xref: MedDRA:10028282 {source="ORDO:83315/e", source="Orphanet:83315"}
xref: MESH:D014437 {source="MONDO:equivalentTo"}
xref: NCIT:C84688 {source="MONDO:equivalentTo"}
xref: Orphanet:83315 {source="MONDO:equivalentTo"}
xref: UMLS:CN206047 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001246 {source="DOID:0050481", source="MONDO:Redundant", source="MONDOLEX:0000330", source="Orphanet:83315"} ! typhus
property_value: exactMatch DOID:0050481
property_value: exactMatch http://identifiers.org/meddra/10028282
property_value: exactMatch http://identifiers.org/mesh/D014437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206047
property_value: exactMatch NCIT:C84688
property_value: exactMatch Orphanet:83315

[Term]
id: MONDO:0000331
name: Rickettsia helvetica spotted fever
def: "A disease caused by infection with Rickettsia helvetica." [MONDO:patterns/infectious_disease_by_agent]
synonym: "aneruptive fever" EXACT [DOID:0050484, https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
synonym: "Rickettsia helvetica aneruptive fever" EXACT [https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
synonym: "Rickettsia helvetica caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsia helvetica disease or disorder" EXACT []
synonym: "Rickettsia helvetica infectious disease" EXACT []
xref: DOID:0050484 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050484", source="MONDOLEX:0000331", source="https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis"} ! spotted fever
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: exactMatch DOID:0050484

[Term]
id: MONDO:0000332
name: sennetsu fever
def: "An ehlrichiosis caused by Neorickettsia sennetsu." [https://en.wikipedia.org/wiki/Neorickettsia_sennetsu]
subset: gard_rare {source="GARD:0000120"}
synonym: "Human Ehrlichial infection, sennetsu type" RELATED [GARD:0000120, MESH:C537582]
synonym: "Neorickettsia sennetsu caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neorickettsia sennetsu disease or disorder" EXACT []
synonym: "Neorickettsia sennetsu infectious disease" EXACT []
synonym: "sennetsu ehrlichiosis" EXACT [DOID:0050485, https://en.wikipedia.org/wiki/Neorickettsia_sennetsu]
synonym: "sennetsu fever" EXACT [https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
xref: DOID:0050485 {source="MONDO:equivalentTo"}
xref: GARD:0000120 {source="MONDO:equivalentTo"}
xref: ICD9:088.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537582 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:21013006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0520779 {source="GARD:0000120", source="MONDO:equivalentTo"}
is_a: MONDO:0016003 {source="MESH:C537582"} ! ehrlichiosis
is_a: MONDO:0024416 ! Neorickettsia infectious disease
property_value: exactMatch DOID:0050485
property_value: exactMatch http://identifiers.org/mesh/C537582
property_value: exactMatch http://identifiers.org/snomedct/21013006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520779
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever xsd:anyURI {source="GARD:0000120"}

[Term]
id: MONDO:0000333
name: early congenital syphilis
def: "A congenital syphilis that is manifested between 0 and 2 years old." [https://en.wikipedia.org/wiki/Congenital_syphilis#Early]
synonym: "Early congenital syphilis (less than 2 years)" BROAD [UMLS:C0275859]
xref: COHD:436632 {source="MONDO:equivalentTo"}
xref: DOID:0050488 {source="MONDO:equivalentTo"}
xref: ICD9:090.2 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:4359001 {source="UMLS:C0275859", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.54"}
xref: UMLS:C0275859 {source="MONDO:equivalentTo"}
is_a: MONDO:0005714 {source="DOID:0050488", source="MONDOLEX:0000333", source="linkedlifedata"} ! congenital syphilis
property_value: exactMatch DOID:0050488
property_value: exactMatch http://identifiers.org/snomedct/4359001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275859

[Term]
id: MONDO:0000334
name: multinodular goiter
def: "Nodular goiter characterized by more than one discrete tissue mass." [NCIT:C131438]
synonym: "goiter, multinodular" EXACT [OMIMPS:138800]
xref: DOID:0050489 {source="MONDO:equivalentTo"}
xref: NCIT:C131438 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:138800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:237570007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342208 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C131438", source="MONDO:equivalentTo"}
is_a: MONDO:0006869 {source="MONDOLEX:0000334", source="NCIT:C131438", source="linkedlifedata"} ! nodular goiter (disease)
property_value: exactMatch DOID:0050489
property_value: exactMatch http://identifiers.org/snomedct/237570007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342208
property_value: exactMatch NCIT:C131438

[Term]
id: MONDO:0000335
name: parenchymatous neurosyphilis
def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy." [DOID:0050490, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
xref: DOID:0050490 {source="MONDO:equivalentTo"}
is_a: MONDO:0004944 {source="DOID:0050490"} ! neurosyphilis
relationship: disease_has_feature MONDO:0013600 ! insomnia (disease)
property_value: exactMatch DOID:0050490

[Term]
id: MONDO:0000336
name: meningovascular neurosyphilis
def: "A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries." [DOID:0050491, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
xref: DOID:0050491 {source="MONDO:equivalentTo"}
is_a: MONDO:0004944 {source="DOID:0050491"} ! neurosyphilis
relationship: disease_has_feature MONDO:0013600 ! insomnia (disease)
property_value: exactMatch DOID:0050491

[Term]
id: MONDO:0000337
name: exanthema subitum
def: "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." [NCIT:C128420]
synonym: "exanthem subitum" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK448190/, NCIT:C128420]
synonym: "pseudorubella" RELATED []
synonym: "roseola" EXACT [NCIT:C128420]
synonym: "roseola Infantum" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/]
synonym: "sixth disease" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/]
xref: COHD:135745 {source="MONDO:equivalentTo"}
xref: DOID:0050495 {source="MONDO:equivalentTo"}
xref: EFO:1001320 {source="MONDO:equivalentTo"}
xref: ICD10:B08.2 {source="DOID:0050495"}
xref: ICD10:B08.20 {source="DOID:0050495"}
xref: ICD9:057.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:058.1 {source="DOID:0050495"}
xref: ICD9:058.10 {source="DOID:0050495"}
xref: MESH:D005077 {source="DOID:0050495", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128420 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:54385001 {source="DOID:0050495", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0015231 {source="DOID:0050495", source="MONDO:equivalentTo"}
xref: UMLS:C0595993 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C128420", source="MONDO:equivalentTo"}
is_a: MONDO:0005949 ! roseolovirus infectious disease
is_a: MONDO:0006547 {source="MESH:D005077", source="MONDO:cjm", source="linkedlifedata"} ! exanthem (disease)
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: closeMatch http://identifiers.org/snomedct/154343004
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/240559001
property_value: closeMatch http://identifiers.org/snomedct/266192003
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: closeMatch http://identifiers.org/snomedct/402902002
property_value: exactMatch DOID:0050495
property_value: exactMatch http://identifiers.org/mesh/D005077
property_value: exactMatch http://identifiers.org/snomedct/54385001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0595993
property_value: exactMatch NCIT:C128420

[Term]
id: MONDO:0000338
name: variola major infectious disease
synonym: "variola major" BROAD []
xref: COHD:134563 {source="MONDO:equivalentTo"}
xref: DOID:0050508 {source="MONDO:equivalentTo"}
xref: ICD9:050.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:0050508"}
xref: SCTID:47452006 {source="MONDO:kboom-pr-0.95/0.76/1.92", source="MONDO:equivalentTo", source="DOID:0050508"}
xref: UMLS:C1812609 {source="MONDO:equivalentTo", source="DOID:0050508"}
is_a: MONDO:0004651 {source="DOID:0050508", source="MONDO:Redundant", source="linkedlifedata"} ! smallpox
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlifedata"} ! exanthem (disease)
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:0050508
property_value: exactMatch http://identifiers.org/snomedct/47452006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1812609

[Term]
id: MONDO:0000339
name: spinal polio
def: "A paralytic poliomyelitis in which the site of paralysis is the spinal cord." [http://en.wikipedia.org/wiki/Poliomyelitis]
xref: DOID:0050513 {source="MONDO:equivalentTo"}
is_a: MONDO:0000341 {source="DOID:0050513"} ! paralytic poliomyelitis
property_value: exactMatch DOID:0050513

[Term]
id: MONDO:0000340
name: bulbospinal polio
def: "A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract." [http://en.wikipedia.org/wiki/Poliomyelitis]
comment: Editor note: TODO align with anatomy
xref: DOID:0050514 {source="MONDO:equivalentTo"}
is_a: MONDO:0000341 {source="DOID:0050514"} ! paralytic poliomyelitis
property_value: exactMatch DOID:0050514

[Term]
id: MONDO:0000341
name: paralytic poliomyelitis
def: "A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." [DOID:0050515, http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms]
xref: DOID:0050515 {source="MONDO:equivalentTo"}
is_a: MONDO:0017373 {source="DOID:0050515", source="MONDO:Redundant", source="MONDOLEX:0000341"} ! poliomyelitis
disjoint_from: MONDO:0003231 ! acute nonparalytic poliomyelitis
property_value: exactMatch DOID:0050515

[Term]
id: MONDO:0000342
name: O'nyong'nyong fever
def: "An disease or disorder caused by infection with O'nyong-nyong virus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "O'nyong-nyong virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "O'nyong-nyong virus disease or disorder" EXACT []
synonym: "O'nyong-nyong virus infectious disease" EXACT []
xref: DOID:0050516 {source="MONDO:equivalentTo"}
xref: ICD10:A92.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:547234 {source="UMLS:C0276286"}
xref: SCTID:85579005 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo", source="UMLS:C0276286"}
xref: UMLS:C0276286 {source="MONDO:equivalentTo"}
is_a: MONDO:0005643 ! Alphavirus infectious disease
is_a: MONDO:0100120 ! vector-borne disease
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: closeMatch http://identifiers.org/medgen/547234
property_value: exactMatch DOID:0050516
property_value: exactMatch http://identifiers.org/snomedct/85579005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276286

[Term]
id: MONDO:0000343
name: Barmah forest virus disease
def: "A disease caused by infection with Barmah Forest virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Barmah Forest virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Barmah Forest virus disease or disorder" EXACT []
synonym: "Barmah Forest virus infectious disease" EXACT []
xref: DOID:0050517 {source="MONDO:equivalentTo"}
is_a: MONDO:0005643 ! Alphavirus infectious disease
property_value: exactMatch DOID:0050517

[Term]
id: MONDO:0000344
name: Ross river fever
def: "A disease caused by infection with Ross River virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Ross River virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ross River virus disease" EXACT [DOID:0050518, MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ross River virus disease or disorder" EXACT []
synonym: "Ross River virus infectious disease" EXACT []
xref: DOID:0050518 {source="MONDO:equivalentTo"}
xref: SCTID:602001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035865 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005643 ! Alphavirus infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050518
property_value: exactMatch http://identifiers.org/snomedct/602001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035865

[Term]
id: MONDO:0000345
name: Oropouche fever
def: "A disease caused by infection with Oropouche virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Oropouche virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oropouche virus disease or disorder" EXACT []
synonym: "Oropouche virus infectious disease" EXACT []
xref: DOID:0050521 {source="MONDO:equivalentTo"}
xref: MEDGEN:547314 {source="UMLS:C0276386"}
xref: SCTID:72880002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="UMLS:C0276386"}
xref: UMLS:C0276386 {source="MONDO:equivalentTo"}
is_a: MONDO:0021641 ! Bunyaviridae infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: closeMatch http://identifiers.org/medgen/547314
property_value: exactMatch DOID:0050521
property_value: exactMatch http://identifiers.org/snomedct/72880002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276386

[Term]
id: MONDO:0000346
name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type
synonym: "Balkan hemorrhagic fever" EXACT [https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome]
xref: DOID:0050522 {source="MONDO:equivalentTo"}
is_a: MONDO:0005784 {source="DOID:0050522", source="MONDO:Entailed", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050522

[Term]
id: MONDO:0000347
name: obsolete adult T-cell leukemia/lymphoma
is_obsolete: true
replaced_by: MONDO:0019471

[Term]
id: MONDO:0000348
name: obsolete posterior polar cataract (disease)
synonym: "cataract, posterior polar" EXACT [DOID:0050537]
xref: DOID:0050537 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:0050537
is_obsolete: true
replaced_by: HP:0001115 {source="ontobio"}

[Term]
id: MONDO:0000349
name: obsolete Charcot-Marie-Tooth disease type 1
is_obsolete: true
replaced_by: MONDO:0019011

[Term]
id: MONDO:0000350
name: obsolete Charcot-Marie-Tooth disease intermediate type
is_obsolete: true
replaced_by: MONDO:0018778

[Term]
id: MONDO:0000351
name: disorder of methionine catabolism
def: "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process." [MONDO:patterns/inborn_metabolic]
synonym: "hypermethioninemia" EXACT [MONDO:ambiguous]
synonym: "inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn methionine catabolic process disorder" EXACT []
synonym: "rare inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of methionine catabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0050544 {source="MONDO:equivalentTo"}
xref: HP:0003235 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:43123004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4048705 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019222 {source="MONDO:Redundant", source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a: MONDO:0037938 ! inborn disorder of aspartate family metabolism
property_value: exactMatch DOID:0050544
property_value: exactMatch http://identifiers.org/snomedct/43123004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048705

[Term]
id: MONDO:0000352
name: obsolete hereditary sensory neuropathy
is_obsolete: true
replaced_by: MONDO:0015364

[Term]
id: MONDO:0000353
name: obsolete Saldino-Noonan syndrome
is_obsolete: true
replaced_by: MONDO:0019663

[Term]
id: MONDO:0000354
name: obsolete JMP syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1271 xsd:string
is_obsolete: true
replaced_by: MONDO:0017959

[Term]
id: MONDO:0000355
name: Ullrich congenital muscular dystrophy
def: "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." [Orphanet:75840]
subset: gard_rare
subset: ordo_disease {source="Orphanet:75840"}
synonym: "congenital muscular dystrophy, Ullrich type" RELATED [Orphanet:75840]
synonym: "late onset scleroatonic familial myopathy (subtype)" RELATED [GARD:0004769]
synonym: "scleroatonic muscular dystrophy" EXACT [Orphanet:75840]
synonym: "scleroatonic Ullrich disease" EXACT [NCIT:C123438]
synonym: "UCMD" EXACT [GARD:0004769, Orphanet:75840]
synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/]
synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558]
xref: DOID:0050558 {source="MONDO:equivalentTo"}
xref: GARD:0004769 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:75840", source="ORDO:75840/attributed", source="ORDO:75840/ntbt"}
xref: MESH:C537521 {source="MONDO:equivalentTo"}
xref: NCIT:C123438 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/1.98"}
xref: OMIMPS:254090 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:75840 {source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090"}
xref: SCTID:240062007 {source="MONDO:kboom-pr-0.94/0.75/1.80", source="MONDO:equivalentTo"}
xref: UMLS:C0410179 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:75840", source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090", source="NCIT:C123438"}
is_a: MONDO:0016148 {source="Orphanet:75840"} ! qualitative or quantitative defects of collagen 6
is_a: MONDO:0019950 {source="DOID:0050558", source="MONDOLEX:0000355", source="Orphanet:75840", source="linkedlifedata"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0050558
property_value: exactMatch http://identifiers.org/mesh/C537521
property_value: exactMatch http://identifiers.org/snomedct/240062007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410179
property_value: exactMatch NCIT:C123438
property_value: exactMatch Orphanet:75840

[Term]
id: MONDO:0000356
name: obsolete Walker-Warburg syndrome
is_obsolete: true
replaced_by: MONDO:0019523

[Term]
id: MONDO:0000357
name: obsolete West syndrome
is_obsolete: true
replaced_by: MONDO:0018097

[Term]
id: MONDO:0000358
name: orofacial cleft
comment: Editor notes: most subtypes are isolated
subset: clingen
xref: DOID:0050567 {source="MONDO:equivalentTo"}
xref: OMIMPS:119530 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:449790007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN221583 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000839 {source="DOID:0050567", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0044987 {source="MONDO:Redundant"} ! face disease
property_value: exactMatch DOID:0050567
property_value: exactMatch http://identifiers.org/snomedct/449790007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221583

[Term]
id: MONDO:0000359
name: spondylocostal dysostosis
def: "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
comment: Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. {source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"}
synonym: "costovertebral dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "Jarcho-Levin syndrome" EXACT DEPRECATED [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "SCD" RELATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "SCDO" RELATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylocostal dysostosis" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylocostal dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylothoracic dysostosis" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylothoracic dysplasia" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
xref: DOID:0050568 {source="MONDO:equivalentTo"}
xref: GARD:0006798 {source="MONDO:equivalentTo"}
xref: GARD:0010726 {source="MONDO:equivalentTo"}
xref: GARD:0012174 {source="MONDO:equivalentTo"}
xref: MESH:C537565 {source="MONDO:equivalentTo"}
xref: NCIT:C125598 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:277300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN201467 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0018234 {source="DOID:0050568", source="NCIT:C125598", source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"} ! dysostosis
property_value: exactMatch DOID:0050568
property_value: exactMatch http://identifiers.org/mesh/C537565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201467
property_value: exactMatch NCIT:C125598

[Term]
id: MONDO:0000360
name: obsolete 2-hydroxyglutaric aciduria
is_obsolete: true
replaced_by: MONDO:0016001

[Term]
id: MONDO:0000361
name: obsolete d-2-hydroxyglutaric aciduria
is_obsolete: true
replaced_by: MONDO:0010924

[Term]
id: MONDO:0000362
name: obsolete Sensenbrenner syndrome
is_obsolete: true
replaced_by: MONDO:0009032

[Term]
id: MONDO:0000363
name: gummatous syphilis
def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [DOID:0050584, http://emedicine.medscape.com/article/229461-overview#a0104]
xref: DOID:0050584 {source="MONDO:equivalentTo"}
is_a: MONDO:0004497 {source="DOID:0050584"} ! tertiary syphilis
property_value: exactMatch DOID:0050584

[Term]
id: MONDO:0000364
name: obsolete severe congenital neutropenia
is_obsolete: true
replaced_by: MONDO:0018542

[Term]
id: MONDO:0000365
name: primary congenital glaucoma (disease)
def: "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs." [https://www.ncbi.nlm.nih.gov/books/NBK1135/]
synonym: "primary congenital glaucoma" EXACT [MONDO:ambiguous]
xref: DOID:0050593 {source="MONDO:equivalentTo"}
xref: HP:0008007 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C150251 {source="MONDO:equivalentTo"}
xref: SCTID:415176004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.40"}
xref: UMLS:C1533041 {source="MONDO:equivalentTo"}
xref: UMLS:C3888011 {source="MONDO:equivalentTo"}
is_a: MONDO:0020366 {source="MONDO:cjm", source="NCIT:C150251", source="linkedlifedata"} ! congenital glaucoma
property_value: exactMatch DOID:0050593
property_value: exactMatch http://identifiers.org/snomedct/415176004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888011
property_value: exactMatch NCIT:C150251

[Term]
id: MONDO:0000366
name: obsolete glycogen storage disease IX
is_obsolete: true
replaced_by: MONDO:0018251

[Term]
id: MONDO:0000367
name: taeniasis
def: "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." [NCIT:C85180]
synonym: "beef tapeworm infection" RELATED [DOID:0050596]
synonym: "infection by taenia saginata" RELATED [MONDO:cjm]
synonym: "infection by Taeniarhynchus saginatus" RELATED [DOID:0050596, MTHICD9_2006:123.2]
synonym: "infections, Taenia" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Taenia infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "taenia saginata infection" EXACT [MONDO:cjm]
synonym: "Taenia saginata infectious disease" RELATED [DOID:0050596]
synonym: "unarmed tapeworm infection" RELATED [MONDO:cjm]
xref: DOID:0050596 {source="MONDO:equivalentTo"}
xref: EFO:1001433 {source="MONDO:equivalentTo"}
xref: ICD10:B68 {source="MONDO:equivalentTo"}
xref: ICD10:B68.1 {source="DOID:0050596"}
xref: ICD9:123.2 {source="DOID:0050596", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013622 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85180 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:69163003 {source="DOID:0050596", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.07"}
xref: UMLS:C0152073 {source="DOID:0050596", source="MONDO:equivalentTo"}
is_a: MONDO:0024271 ! intestinal helminthiasis
is_a: MONDO:0042488 ! Cestode infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039254
property_value: exactMatch DOID:0050596
property_value: exactMatch http://identifiers.org/mesh/D013622
property_value: exactMatch http://identifiers.org/snomedct/69163003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152073
property_value: exactMatch NCIT:C85180

[Term]
id: MONDO:0000368
name: extrapulmonary tuberculosis
def: "A tuberculosis that occurs at body sites other than the lung." [DOID:0050598, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
xref: DOID:0050598 {source="MONDO:equivalentTo"}
xref: SCTID:423997002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.71/0.37/0.24"}
xref: UMLS:C0679362 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="DOID:0050598", source="linkedlifedata"} ! tuberculosis
disjoint_from: MONDO:0006052 ! pulmonary tuberculosis
property_value: exactMatch DOID:0050598
property_value: exactMatch http://identifiers.org/snomedct/423997002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0679362

[Term]
id: MONDO:0000369
name: abdominal tuberculosis
def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." [DOID:0050599, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
synonym: "tuberculosis of abdomen" EXACT []
xref: DOID:0050599 {source="MONDO:equivalentTo"}
xref: ICD9:014.80 {source="linkedlifedata"}
xref: SCTID:447330002 {source="MONDO:equivalentTo"}
xref: UMLS:C0740652 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000368 {source="DOID:0050599"} ! extrapulmonary tuberculosis
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch DOID:0050599
property_value: exactMatch http://identifiers.org/snomedct/447330002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740652

[Term]
id: MONDO:0000370
name: obsolete Askin's tumor
is_obsolete: true
replaced_by: MONDO:0006094

[Term]
id: MONDO:0000371
name: oral cavity carcinoma in situ
alt_id: MONDO:0021286
def: "A in situ carcinoma that involves the oral cavity." [MONDO:patterns/location]
synonym: "carcinoma in situ of mouth" EXACT [NCIT:C4587]
synonym: "carcinoma in situ of oral cavity" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the mouth" EXACT [NCIT:C4587]
synonym: "carcinoma in situ of the oral cavity" EXACT [NCIT:C4587]
synonym: "mouth carcinoma in situ" EXACT [NCIT:C4587]
synonym: "oral cavity in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of mouth" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of oral cavity" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of the mouth" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of the oral cavity" EXACT [NCIT:C4587]
synonym: "stage 0 mouth carcinoma" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v6" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v6 and v7" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v7" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050610 {source="MONDO:equivalentTo"}
xref: NCIT:C4587 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo"}
xref: SCTID:92660005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C0347073 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4587"}
is_a: MONDO:0004647 {source="DOID:0050610", source="MONDO:Redundant", source="MONDOLEX:0000371", source="NCIT:C4587/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0044925 {source="NCIT:C4587"} ! oral cavity carcinoma
property_value: exactMatch DOID:0050610
property_value: exactMatch http://identifiers.org/snomedct/92660005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347073
property_value: exactMatch NCIT:C4587

[Term]
id: MONDO:0000372
name: pharynx carcinoma in situ
def: "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions." [NCIT:P378]
synonym: "carcinoma in situ of pharynx" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4942]
synonym: "carcinoma in situ of the pharynx" EXACT [NCIT:C4942]
synonym: "pharyngeal cancer stage 0" EXACT [NCIT:C4942]
synonym: "pharyngeal carcinoma in situ" EXACT [NCIT:C4942]
synonym: "pharynx carcinoma in situ" EXACT [NCIT:C4942]
synonym: "pharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of pharynx" EXACT [NCIT:C4942]
synonym: "stage 0 carcinoma of the pharynx" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal cancer" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal carcinoma" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal throat cancer" EXACT [NCIT:C4942]
synonym: "stage 0 pharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4942]
xref: DOID:0050611 {source="MONDO:equivalentTo"}
xref: NCIT:C4942 {source="MONDO:equivalentTo"}
xref: SCTID:92681005 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0347098 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4942"}
is_a: MONDO:0004647 {source="DOID:0050611", source="MONDO:Redundant", source="MONDOLEX:0000372", source="NCIT:C4942", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C4942"} ! carcinoma of pharynx
property_value: exactMatch DOID:0050611
property_value: exactMatch http://identifiers.org/snomedct/92681005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347098
property_value: exactMatch NCIT:C4942

[Term]
id: MONDO:0000373
name: gall bladder carcinoma in situ
def: "A carcinoma in situ involving a gall bladder." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of gall bladder" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "gall bladder in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 gall bladder carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050612 {source="MONDO:equivalentTo"}
is_a: MONDO:0003220 ! gallbladder carcinoma
is_a: MONDO:0004647 {source="DOID:0050612", source="MONDO:Redundant", source="MONDOLEX:0000373"} ! in situ carcinoma
property_value: exactMatch DOID:0050612

[Term]
id: MONDO:0000374
name: bile duct carcinoma in situ
def: "A carcinoma in situ involving a bile duct." [MONDO:patterns/carcinoma_in_situ]
synonym: "bile duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of bile duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050613 {source="MONDO:equivalentTo"}
is_a: MONDO:0004715 ! liver carcinoma in situ
is_a: MONDO:0005496 ! bile duct carcinoma
property_value: exactMatch DOID:0050613

[Term]
id: MONDO:0000375
name: bronchus carcinoma in situ
def: "A carcinoma in situ involving a bronchus." [MONDO:patterns/carcinoma_in_situ]
synonym: "bronchus in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of bronchus" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 bronchus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050614 {source="MONDO:equivalentTo"}
xref: SCTID:92557009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C2939445 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002806 ! bronchogenic carcinoma
is_a: MONDO:0004660 ! lung carcinoma in situ
property_value: exactMatch DOID:0050614
property_value: exactMatch http://identifiers.org/snomedct/92557009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939445

[Term]
id: MONDO:0000376
name: respiratory system cancer
def: "A malignant neoplasm involving the respiratory system" [MONDO:DesignPattern]
synonym: "cancer of respiratory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of respiratory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant respiratory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "respiratory system cancer" EXACT [MONDO:patterns/location]
xref: DOID:0050615 {source="MONDO:equivalentTo"}
xref: ICD9:165.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:165.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:449096009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.86"}
xref: UMLS:C3164456 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:0050615", source="DOID:0050615/inferred", source="MONDO:Redundant", source="MONDOLEX:0000376", source="linkedlifedata"} ! cancer
is_a: MONDO:0005087 {source="DOID:0050615", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease
property_value: exactMatch DOID:0050615
property_value: exactMatch http://identifiers.org/snomedct/449096009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164456

[Term]
id: MONDO:0000377
name: malignant Leydig cell tumor
def: "A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course." [NCIT:P378]
synonym: "cancer of Leydig cell" EXACT [MONDO:patterns/cancer]
synonym: "Leydig cell cancer" EXACT [MONDO:patterns/location]
synonym: "Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4213]
synonym: "malignant interstitial cell neoplasm" EXACT [NCIT:C4213]
synonym: "malignant interstitial cell tumor" RELATED [DOID:0050616]
synonym: "malignant Leydig cell neoplasm" EXACT [DOID:0050616, MONDO:patterns/cancer, NCIT:C4213]
synonym: "malignant neoplasm of Leydig cell" EXACT [MONDO:patterns/cancer]
xref: DOID:0050616 {source="MONDO:equivalentTo"}
xref: ICDO:8650/3 {source="NCIT:C4213"}
xref: NCIT:C4213 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050616"}
xref: UMLS:C0334410 {source="MONDO:equivalentTo", source="NCIT:C4213", source="DOID:0050616"}
is_a: MONDO:0002149 ! reproductive system cancer
is_a: MONDO:0006266 {source="MONDO:Redundant", source="NCIT:C4213"} ! Leydig cell tumor
property_value: closeMatch http://identifiers.org/snomedct/77870005
property_value: exactMatch DOID:0050616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334410
property_value: exactMatch NCIT:C4213

[Term]
id: MONDO:0000378
name: malignant Sertoli cell tumor
def: "A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site." [NCIT:C67006]
synonym: "malignant Androblastoma" EXACT [NCIT:C67006]
synonym: "Sertoli cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C67006]
xref: DOID:0050617 {source="MONDO:equivalentTo"}
xref: ICDO:8630/3 {source="NCIT:C67006"}
xref: ICDO:8640/3 {source="NCIT:C67006"}
xref: NCIT:C67006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0334406 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C67006"}
is_a: MONDO:0002149 ! reproductive system cancer
is_a: MONDO:0002696 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C67006"} ! Sertoli cell tumor
property_value: exactMatch DOID:0050617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334406
property_value: exactMatch NCIT:C67006

[Term]
id: MONDO:0000379
name: malignant Sertoli-Leydig cell tumor
def: "A malignant form of Sertoli-leydig cell tumor." [MONDO:patterns/malignant]
synonym: "Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0050618 {source="MONDO:equivalentTo"}
is_a: MONDO:0002479 {source="MONDO:Redundant", source="MONDO:cjm"} ! Sertoli-Leydig cell tumor
is_a: MONDO:0005447 ! testicular cancer
property_value: exactMatch DOID:0050618

[Term]
id: MONDO:0000380
name: paranasal sinus carcinoma
def: "A malignant epithelial neoplasm arising in the paranasal sinus." [NCIT:C6014]
synonym: "accessory sinus cancer" EXACT [NCIT:C6014]
synonym: "accessory sinus carcinoma" EXACT [NCIT:C6014]
synonym: "adenoid cystic carcinoma of accessory sinus" RELATED [DOID:0050619]
synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [DOID:0050619]
synonym: "cancer of paranasal sinus" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of accessory sinus" EXACT [NCIT:C6014]
synonym: "carcinoma of paranasal sinus" EXACT [MONDO:patterns/carcinoma, NCIT:C6014]
synonym: "carcinoma of the accessory sinus" EXACT [NCIT:C6014]
synonym: "carcinoma of the paranasal sinus" EXACT [NCIT:C6014]
synonym: "epidermoid carcinoma of the paranasal sinus" RELATED [DOID:0050619]
synonym: "malignant neoplasm of paranasal sinus" EXACT [MONDO:patterns/cancer]
synonym: "malignant paranasal sinus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [DOID:0050619]
synonym: "paranasal sinus adenocarcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus adenoid cystic carcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus cancer" EXACT [MONDO:patterns/location, NCIT:C6014]
synonym: "paranasal sinus carcinoma" EXACT [NCIT:C6014]
synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus squamous cell carcinoma" RELATED [DOID:0050619]
synonym: "squamous cell carcinoma of paranasal sinus" RELATED [DOID:0050619]
xref: DOID:0050619 {source="MONDO:equivalentTo"}
xref: NCIT:C6014 {source="MONDO:equivalentTo", source="DOID:0050619"}
xref: UMLS:C0854995 {source="MONDO:equivalentTo", source="DOID:0050619"}
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0020669 ! paranasal sinus cancer
is_a: MONDO:0056819 {source="NCIT:C6014"} ! nasal cavity and paranasal sinus carcinoma
property_value: closeMatch http://identifiers.org/mesh/D010255
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335336
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335340
property_value: closeMatch NCIT:C6017
property_value: exactMatch DOID:0050619
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854995
property_value: exactMatch NCIT:C6014

[Term]
id: MONDO:0000381
name: infiltrating renal pelvis transitional cell carcinoma
def: "A infiltrating urothelial carcinoma that involves the renal pelvis." [MONDO:patterns/location]
xref: DOID:0050620 {source="MONDO:equivalentTo"}
is_a: MONDO:0004010 ! infiltrating renal pelvis/ureter urothelial carcinoma
is_a: MONDO:0005221 {source="DOID:0050620", source="MONDO:Redundant", source="MONDOLEX:0000381"} ! renal pelvis urothelial carcinoma
property_value: exactMatch DOID:0050620

[Term]
id: MONDO:0000382
name: respiratory system benign neoplasm
def: "A benign neoplasm that involves the respiratory system." [MONDO:patterns/location]
synonym: "respiratory system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0050621 {source="MONDO:equivalentTo"}
xref: SCTID:255166003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0497556 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="DOID:0050621", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease
is_a: MONDO:0005165 {source="DOID:0050621", source="DOID:0050621/inferred", source="MONDO:Redundant", source="MONDOLEX:0000382", source="linkedlifedata"} ! benign neoplasm
property_value: exactMatch DOID:0050621
property_value: exactMatch http://identifiers.org/snomedct/255166003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497556

[Term]
id: MONDO:0000383
name: benign reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." [NCIT:C7617]
synonym: "benign reproductive system neoplasm" EXACT [NCIT:C7617]
synonym: "reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0050622 {source="MONDO:equivalentTo"}
xref: NCIT:C7617 {source="MONDO:equivalentTo"}
xref: UMLS:C1332536 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7617"}
is_a: MONDO:0005165 {source="DOID:0050622", source="DOID:0050622/inferred", source="MONDO:Redundant", source="MONDOLEX:0000383"} ! benign neoplasm
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C7617"} ! reproductive system neoplasm
property_value: exactMatch DOID:0050622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332536
property_value: exactMatch NCIT:C7617

[Term]
id: MONDO:0000384
name: bladder benign neoplasm
def: "A benign abnormal growth of the cells that comprise the bladder." [NCIT:P378]
synonym: "benign bladder neoplasm" EXACT [NCIT:C3618]
synonym: "benign bladder tumor" EXACT [NCIT:C3618]
synonym: "benign neoplasm of bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of the bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of the urinary bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of urinary bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of the bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of the urinary bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of urinary bladder" EXACT [NCIT:C3618]
synonym: "benign urinary bladder neoplasm" EXACT [NCIT:C3618]
synonym: "benign urinary bladder tumor" EXACT [NCIT:C3618]
synonym: "urinary bladder benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:201824 {source="MONDO:equivalentTo"}
xref: DOID:0050623 {source="MONDO:equivalentTo"}
xref: ICD9:223.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3618 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:91992005 {source="MONDO:kboom-pr-0.78/0.39/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0154017 {source="NCIT:C3618", source="MONDO:equivalentTo"}
is_a: MONDO:0004180 {source="DOID:0050623", source="MONDO:Redundant", source="NCIT:C3618", source="linkedlifedata"} ! benign urinary system neoplasm
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C3618", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary bladder neoplasm
property_value: exactMatch DOID:0050623
property_value: exactMatch http://identifiers.org/snomedct/91992005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154017
property_value: exactMatch NCIT:C3618

[Term]
id: MONDO:0000385
name: benign digestive system neoplasm
def: "A non-metastasizing neoplasm arising from any part of the digestive system." [NCIT:P378]
synonym: "alimentary part of gastrointestinal system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign digestive system tumor" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal neoplasm" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal system tumor" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal tumor" EXACT [NCIT:C4787]
synonym: "benign GI neoplasm" EXACT [NCIT:C4787]
synonym: "benign GI system neoplasm" EXACT [NCIT:C4787]
synonym: "benign GI system tumor" EXACT [NCIT:C4787]
synonym: "benign GI tumor" EXACT [NCIT:C4787]
synonym: "benign neoplasm of digestive system" EXACT [NCIT:C4787]
synonym: "benign neoplasm of gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign neoplasm of the digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign tumor of GI system" EXACT [NCIT:C4787]
synonym: "benign tumor of the digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of the gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign tumor of the GI system" EXACT [NCIT:C4787]
synonym: "gastrointestinal system benign neoplasm" RELATED [DOID:0050624]
xref: DOID:0050624 {source="MONDO:equivalentTo"}
xref: NCIT:C4787 {source="MONDO:equivalentTo"}
xref: UMLS:C0497538 {source="MONDO:equivalentTo", source="NCIT:C4787"}
is_a: MONDO:0005165 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDO:Redundant", source="MONDOLEX:0000385"} ! benign neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="MONDOLEX:0000385", source="NCIT:C4787"} ! digestive system neoplasm
property_value: exactMatch DOID:0050624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497538
property_value: exactMatch NCIT:C4787

[Term]
id: MONDO:0000386
name: digestive system neuroendocrine tumor, grade 1/2
def: "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." [NCIT:P378]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" EXACT [MONDO:patterns/location]
synonym: "digestive system NET" EXACT [NCIT:C95404]
synonym: "digestive system neuroendocrine tumor" EXACT [NCIT:C95404]
synonym: "digestive system well differentiated Neuroendocrine tumor" EXACT [NCIT:C95404]
synonym: "Gastroenteropancreatic NET" EXACT [NCIT:C95404]
synonym: "Gastroenteropancreatic Neuroendocrine tumor" EXACT [NCIT:C95404]
synonym: "gastrointestinal NET" EXACT [NCIT:C95404]
synonym: "gastrointestinal neuroendocrine tumor" EXACT [NCIT:C95404]
synonym: "gastrointestinal neuroendocrine tumors" RELATED [ONCOTREE:GINET]
synonym: "gastrointestinal system neuroendocrine tumor" EXACT [NCIT:C95404]
synonym: "GINET" RELATED [ONCOTREE:GINET]
synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [DOID:0050626]
xref: DOID:0050626 {source="MONDO:equivalentTo"}
xref: NCIT:C95404 {source="MONDO:equivalentTo"}
xref: ONCOTREE:GINET {source="MONDO:equivalentTo"}
xref: UMLS:C2987127 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C95404", source="MONDO:equivalentTo"}
is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm
relationship: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: exactMatch DOID:0050626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987127
property_value: exactMatch NCIT:C95404

[Term]
id: MONDO:0000387
name: hypochromic microcytic anemia (disease)
def: "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." [https://www.ncbi.nlm.nih.gov/books/NBK470252/, MONDO:cjm]
synonym: "hypochromic microcytic anemia" EXACT [MONDO:ambiguous]
xref: DOID:0050642 {source="MONDO:equivalentTo"}
xref: HP:0004840 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C536357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:44666001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.69"}
xref: UMLS:C0271901 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001245 {source="DOID:0050642", source="HP:0004840", source="MONDOLEX:0000387", source="linkedlifedata"} ! microcytic anemia
is_a: MONDO:0001357 {source="HP:0004840"} ! hypochromic anemia (disease)
property_value: exactMatch DOID:0050642
property_value: exactMatch http://identifiers.org/mesh/C536357
property_value: exactMatch http://identifiers.org/snomedct/44666001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271901

[Term]
id: MONDO:0000388
name: obsolete anonychia congenita
synonym: "hyponychia congenita" EXACT [DOID:0050643]
is_obsolete: true
consider: MONDO:0008798

[Term]
id: MONDO:0000389
name: atelosteogenesis
xref: DOID:0050648 {source="MONDO:equivalentTo"}
xref: OMIMPS:108720 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:43814000 {source="MONDO:kboom-pr-0.92/0.67/1.74", source="MONDO:equivalentTo"}
xref: UMLS:CN163181 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0050648", source="linkedlifedata"} ! osteochondrodysplasia
property_value: exactMatch DOID:0050648
property_value: exactMatch http://identifiers.org/snomedct/43814000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN163181

[Term]
id: MONDO:0000390
name: vitelliform macular dystrophy
def: "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." [NCIT:C118788]
synonym: "macular dystrophy, vitelliform" EXACT [OMIMPS:153840]
synonym: "vitelliform macular dystrophy" EXACT [NCIT:C118788]
xref: DOID:0050661 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0050661", source="MONDO:relatedTo"}
xref: MESH:D057826 {source="MONDO:equivalentTo"}
xref: NCIT:C118788 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:153840 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:90036004 {source="MONDO:kboom-pr-1.00/0.79/7.87", source="MONDO:equivalentTo"}
xref: UMLS:C0339510 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C118788"}
is_a: MONDO:0003004 {source="DOID:0050661"} ! macular degeneration
is_a: MONDO:0020242 {source="NCIT:C118788", source="linkedlifedata"} ! genetic macular dystrophy
property_value: exactMatch DOID:0050661
property_value: exactMatch http://identifiers.org/mesh/D057826
property_value: exactMatch http://identifiers.org/snomedct/90036004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339510
property_value: exactMatch NCIT:C118788

[Term]
id: MONDO:0000391
name: obsolete Bethlem myopathy
is_obsolete: true
replaced_by: MONDO:0008029

[Term]
id: MONDO:0000392
name: obsolete fetal alcohol syndrome
is_obsolete: true
replaced_by: MONDO:0016011

[Term]
id: MONDO:0000393
name: partial fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." [DOID:0050666, http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]
xref: DOID:0050666 {source="MONDO:equivalentTo"}
xref: UMLS:C3661483 {source="MONDO:equivalentTo"}
is_a: MONDO:0000408 {source="DOID:0050666"} ! fetal alcohol spectrum disorder
property_value: exactMatch DOID:0050666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661483

[Term]
id: MONDO:0000394
name: obsolete alcohol-related neurodevelopmental disorder
is_obsolete: true
replaced_by: MONDO:0016011

[Term]
id: MONDO:0000395
name: alcohol-related birth defect
def: "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy." [NCIT:C92727]
synonym: "alcohol related birth defect" EXACT [NCIT:C92727]
synonym: "ARBD" EXACT [DOID:0050668, NCIT:C92727]
xref: DOID:0050668 {source="MONDO:equivalentTo"}
xref: NCIT:C92727 {source="MONDO:equivalentTo"}
xref: UMLS:C3146244 {source="MONDO:equivalentTo", source="NCIT:C92727"}
is_a: MONDO:0000408 {source="DOID:0050668", source="https://www.cdc.gov/ncbddd/fasd/facts.html"} ! fetal alcohol spectrum disorder
is_a: MONDO:0002326 ! alcohol-induced mental disorder
property_value: exactMatch DOID:0050668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3146244
property_value: exactMatch NCIT:C92727

[Term]
id: MONDO:0000396
name: spastic cerebral palsy
def: "A form of cerebral palsy wherein spasticity is the exclusive impairment present." [https://en.wikipedia.org/wiki/Spastic_cerebral_palsy]
synonym: "hypertonic cerebral palsy" RELATED [https://en.wikipedia.org/wiki/Spastic_cerebral_palsy]
xref: DOID:0050669 {source="MONDO:equivalentTo"}
xref: ICD9:344.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116903 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:230773005 {source="MONDO:kboom-pr-0.90/0.75/0.50", source="MONDO:equivalentTo"}
xref: UMLS:C0338596 {source="MONDO:equivalentTo", source="NCIT:C116903"}
is_a: MONDO:0006497 {source="DOID:0050669", source="MONDOLEX:0000396", source="NCIT:C116903", source="linkedlifedata"} ! cerebral palsy
property_value: exactMatch DOID:0050669
property_value: exactMatch http://identifiers.org/snomedct/230773005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338596
property_value: exactMatch NCIT:C116903

[Term]
id: MONDO:0000397
name: ataxic cerebral palsy
def: "A form of cerebral palsy caused by damage to cerebellar structures." [https://en.wikipedia.org/wiki/Ataxic_cerebral_palsy]
synonym: "hypotonic cerebral palsy" RELATED EXCLUDE [DOID:0050670]
xref: DOID:0050670 {source="MONDO:equivalentTo"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C97168 {source="MONDO:equivalentTo"}
xref: SCTID:278512001 {source="MONDO:equivalentTo"}
xref: UMLS:C0394005 {source="MONDO:equivalentTo", source="NCIT:C97168"}
is_a: MONDO:0006497 {source="DOID:0050670", source="MONDOLEX:0000397", source="NCIT:C97168", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral palsy
property_value: exactMatch DOID:0050670
property_value: exactMatch http://identifiers.org/snomedct/278512001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0394005
property_value: exactMatch NCIT:C97168

[Term]
id: MONDO:0000398
name: obsolete female breast cancer
is_obsolete: true
replaced_by: MONDO:0004379

[Term]
id: MONDO:0000399
name: obsolete dyskinetic cerebral palsy
is_obsolete: true
replaced_by: MONDO:0022697

[Term]
id: MONDO:0000400
name: mixed cerebral palsy
def: "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy." [NCIT:C97177]
xref: DOID:0050673 {source="MONDO:equivalentTo"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C97177 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:702318008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751024 {source="MONDO:equivalentTo", source="NCIT:C97177"}
is_a: MONDO:0006497 {source="DOID:0050673", source="MONDOLEX:0000400", source="NCIT:C97177", source="linkedlifedata"} ! cerebral palsy
property_value: exactMatch DOID:0050673
property_value: exactMatch http://identifiers.org/snomedct/702318008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751024
property_value: exactMatch NCIT:C97177

[Term]
id: MONDO:0000401
name: obsolete congenital bile acid synthesis defect
is_obsolete: true
replaced_by: MONDO:0018841

[Term]
id: MONDO:0000402
name: small cell carcinoma
def: "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." [NCIT:C3915]
synonym: "intermediate cell small cell carcinoma" RELATED [DOID:0050685]
synonym: "oat cell cancer" EXACT [NCIT:C3915]
synonym: "oat cell carcinoma" EXACT [NCIT:C3915]
synonym: "small cell cancer" EXACT [NCIT:C3915]
synonym: "small cell car. (extrapulmonary)" EXACT [NCIT:C3915]
synonym: "small cell carcinoma" EXACT [NCIT:C3915]
synonym: "small cell carcinoma (extrapulmonary)" EXACT [NCIT:C3915]
synonym: "small cell carcinoma - intermediate cell" RELATED [DOID:0050685]
synonym: "small cell carcinoma, intermediate cell" RELATED [DOID:0050685]
synonym: "small cell carcinoma, intermediate cell (morphologic abnormality)" RELATED [DOID:0050685]
synonym: "small cell NEC" EXACT [NCIT:C3915]
synonym: "small cell neuroendocrine carcinoma" EXACT [NCIT:C3915]
xref: DOID:0050685 {source="MONDO:equivalentTo"}
xref: EFO:0008524 {source="MONDO:equivalentTo"}
xref: ICDO:8041/3 {source="NCIT:C3915"}
xref: ICDO:8042/3 {source="NCIT:C3915"}
xref: MESH:D018288 {source="MONDO:equivalentTo"}
xref: NCIT:C3915 {source="MONDO:equivalentTo"}
xref: SCTID:11010461000119101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334239 {source="DOID:0050685", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002120 {source="MONDOLEX:0000402", source="NCIT:C3915"} ! neuroendocrine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189557009
property_value: closeMatch http://identifiers.org/snomedct/5958006
property_value: closeMatch NCIT:C4099
property_value: exactMatch DOID:0050685
property_value: exactMatch http://identifiers.org/mesh/D018288
property_value: exactMatch http://identifiers.org/snomedct/11010461000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334239
property_value: exactMatch NCIT:C3915

[Term]
id: MONDO:0000403
name: obsolete organ system cancer
is_obsolete: true
replaced_by: MONDO:0004992

[Term]
id: MONDO:0000404
name: obsolete cell type cancer
is_obsolete: true
replaced_by: MONDO:0004992

[Term]
id: MONDO:0000405
name: anal canal cancer
def: "A malignant neoplasm involving the anal canal" [MONDO:DesignPattern]
synonym: "anal canal cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of anal canal" EXACT [MONDO:patterns/cancer]
synonym: "malignant anal canal neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anal canal" EXACT [MONDO:patterns/cancer]
xref: DOID:0050688 {source="MONDO:equivalentTo"}
xref: ICD9:154.2 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363352004 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C0153445 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005814 ! intestinal cancer
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch DOID:0050688
property_value: exactMatch http://identifiers.org/snomedct/363352004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153445

[Term]
id: MONDO:0000406
name: obsolete Brown-Vialetto-van Laere syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/127 xsd:string
is_obsolete: true
replaced_by: MONDO:0008891

[Term]
id: MONDO:0000407
name: malignant pleural solitary fibrous tumor
def: "A malignant form of pleural solitary fibrous tumor." [MONDO:patterns/malignant]
synonym: "pleural solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0050695 {source="MONDO:equivalentTo"}
is_a: MONDO:0002176 ! connective tissue cancer
is_a: MONDO:0006294 {source="DOID:0050695", source="MONDO:Entailed", source="MONDO:Redundant"} ! pleural cancer
is_a: MONDO:0021041 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0000407"} ! pleural solitary fibrous tumor
property_value: exactMatch DOID:0050695

[Term]
id: MONDO:0000408
name: fetal alcohol spectrum disorder
def: "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." [NCIT:C92780]
xref: DOID:0050696 {source="MONDO:equivalentTo"}
xref: NCIT:C92780 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:609437000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2985290 {source="MONDO:equivalentTo", source="NCIT:C92780"}
xref: UMLS:CN200663 {source="MONDO:equivalentTo"}
is_a: MONDO:0000592 {source="DOID:0050696"} ! specific developmental disorder
property_value: exactMatch DOID:0050696
property_value: exactMatch http://identifiers.org/snomedct/609437000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2985290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200663
property_value: exactMatch NCIT:C92780

[Term]
id: MONDO:0000409
name: chorioamnionitis
def: "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." [NCIT:C26720]
synonym: "fetal membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of fetal membrane" EXACT []
synonym: "intra-amniotic infection" EXACT [https://en.wikipedia.org/wiki/Chorioamnionitis]
xref: DOID:0050697 {source="MONDO:equivalentTo"}
xref: MESH:D002821 {source="MONDO:equivalentTo"}
xref: NCIT:C26720 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:11612004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005113 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C26720/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0045013 ! disease of extraembryonic membrane
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008495
property_value: exactMatch DOID:0050697
property_value: exactMatch http://identifiers.org/mesh/D002821
property_value: exactMatch http://identifiers.org/snomedct/11612004
property_value: exactMatch NCIT:C26720

[Term]
id: MONDO:0000410
name: funisitis
def: "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid." [NCIT:C97077]
xref: DOID:0050698 {source="MONDO:equivalentTo"}
xref: ICD9:658.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C97077 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:396343006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1275592 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C97077"}
is_a: MONDO:0021562 ! omphalitis
is_a: MONDO:0024575 {source="NCIT:C97077"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:0050698"} ! connective tissue disease
property_value: exactMatch DOID:0050698
property_value: exactMatch http://identifiers.org/snomedct/396343006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275592
property_value: exactMatch NCIT:C97077

[Term]
id: MONDO:0000411
name: electroclinical syndrome
def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [DOID:0050701, http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, PMID:20196795]
synonym: "electro-clinical syndrome" EXACT [DOID:0050701]
xref: DOID:0050701 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="DOID:0050701"} ! epilepsy
property_value: exactMatch DOID:0050701

[Term]
id: MONDO:0000412
name: neonatal period electroclinical syndrome
def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [DOID:0050702, PMID:20196795, PMID:22182677]
comment: Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29
xref: DOID:0050702 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050702"} ! electroclinical syndrome
property_value: exactMatch DOID:0050702

[Term]
id: MONDO:0000413
name: infancy electroclinical syndrome
def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [DOID:0050703, PMID:20196795]
xref: DOID:0050703 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050703"} ! electroclinical syndrome
property_value: exactMatch DOID:0050703

[Term]
id: MONDO:0000414
name: childhood electroclinical syndrome
def: "A electroclinical syndrome that occurs during childhood." [MONDO:design_pattern]
synonym: "electroclinical syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric electroclinical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric electroclinical syndrome" RELATED [MONDO:patterns/childhood]
xref: DOID:0050704 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050704", source="MONDO:Redundant"} ! electroclinical syndrome
property_value: exactMatch DOID:0050704

[Term]
id: MONDO:0000415
name: adolescence-adult electroclinical syndrome
def: "An electroclinical syndrome with onset in adolescence and adulthood." [DOID:0050705, JA:Epilepsy_Genetics_Kiel, PMID:20196795]
xref: DOID:0050705 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050705"} ! electroclinical syndrome
property_value: exactMatch DOID:0050705

[Term]
id: MONDO:0000416
name: obsolete variable age at onset electroclinical syndrome
is_obsolete: true
replaced_by: MONDO:0100036

[Term]
id: MONDO:0000417
name: early onset absence epilepsy
def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." [DOID:0050708, http://www.ilae-epilepsy.org]
xref: DOID:0050708 {source="MONDO:equivalentTo"}
is_a: MONDO:0000414 {source="DOID:0050708"} ! childhood electroclinical syndrome
property_value: exactMatch DOID:0050708

[Term]
id: MONDO:0000418
name: obsolete Ohtahara syndrome
is_obsolete: true
replaced_by: MONDO:0016021

[Term]
id: MONDO:0000419
name: obsolete 3-Methylcrotonyl-CoA carboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0018950

[Term]
id: MONDO:0000420
name: obsolete cerebral folate receptor alpha deficiency
is_obsolete: true
replaced_by: MONDO:0013110

[Term]
id: MONDO:0000421
name: inborn serine deficiency
def: "An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn L-serine biosynthetic process disorder" EXACT []
synonym: "rare inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of L-serine biosynthetic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0050721 {source="MONDO:equivalentTo"}
is_a: MONDO:0019239 ! inborn disorder of serine family metabolism
property_value: exactMatch DOID:0050721

[Term]
id: MONDO:0000422
name: obsolete inborn glycogen metabolism disorder
is_obsolete: true
replaced_by: MONDO:0002412

[Term]
id: MONDO:0000423
name: obsolete coenzyme Q10 deficiency disease
is_obsolete: true
replaced_by: MONDO:0018151

[Term]
id: MONDO:0000424
name: inborn vitamin B12 deficiency (disease)
def: "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." [NCIT:C131684]
synonym: "cobalamin deficiency" BROAD [DOID:0050731]
synonym: "hypocobalaminemia" BROAD [DOID:0050731]
synonym: "inborn cobalamin metabolic process disorder" EXACT []
synonym: "inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cobalamin metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0050731 {source="MONDO:equivalentTo"}
xref: EFO:0000734 {source="MONDO:equivalentTo"}
is_a: MONDO:0005528 {source="HP:0100502", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn vitamin metabolic disorder
is_a: MONDO:0020696 ! vitamin B12 deficiency
property_value: exactMatch DOID:0050731

[Term]
id: MONDO:0000425
name: X-linked disease
def: "X-linked form of disease." [MONDO:patterns/x_linked]
synonym: "disease or disorder, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "disease, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "disease, X-linked genetic" RELATED [MESH:D040181]
synonym: "diseases, X-linked genetic" RELATED [MESH:D040181]
synonym: "genetic disease, X-linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X chromosome linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X-chromosome linked" RELATED [MESH:D040181]
synonym: "X linked genetic diseases" RELATED [MESH:D040181]
synonym: "X-linked disease or disorder" EXACT [MONDO:design_pattern]
synonym: "X-linked genetic disease" RELATED [MESH:D040181]
synonym: "X-linked genetic diseases" RELATED [MESH:D040181]
synonym: "X-linked hereditary disease" EXACT []
synonym: "X-linked hereditary disorder" EXACT []
synonym: "X-linked inherited disease" EXACT []
synonym: "X-linked inherited disorder" EXACT []
xref: DOID:0050735 {source="MONDO:equivalentTo"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D040181 {source="MONDO:equivalentTo"}
xref: NCIT:C85865 {source="MONDO:equivalentTo"}
xref: SCTID:128430005 {source="MONDO:equivalentTo"}
xref: UMLS:C1138434 {source="MONDO:equivalentTo"}
xref: UMLS:C2828000 {source="NCIT:C85865", source="MONDO:equivalentTo"}
is_a: MONDO:0020606 ! sex-linked disease
disjoint_from: MONDO:0000426 ! autosomal dominant disease
disjoint_from: MONDO:0006025 ! autosomal recessive disease
property_value: exactMatch DOID:0050735
property_value: exactMatch http://identifiers.org/mesh/D040181
property_value: exactMatch http://identifiers.org/snomedct/128430005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1138434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2828000
property_value: exactMatch NCIT:C85865

[Term]
id: MONDO:0000426
name: autosomal dominant disease
def: "Autosomal dominant form of disease." [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant disease or disorder" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hereditary disorder" EXACT []
synonym: "autosomal dominant inherited disorder" EXACT []
synonym: "disease or disorder, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0050736 {source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:11164009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265385 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000429 {source="DOID:0050736", source="linkedlifedata"} ! autosomal genetic disease
disjoint_from: MONDO:0006025 ! autosomal recessive disease
property_value: exactMatch DOID:0050736
property_value: exactMatch http://identifiers.org/snomedct/11164009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265385

[Term]
id: MONDO:0000427
name: obsolete autosomal recessive disease
is_obsolete: true
replaced_by: MONDO:0006025

[Term]
id: MONDO:0000428
name: Y-linked disease
def: "Y-linked form of disease." [MONDO:patterns/y_linked]
synonym: "disease or disorder, Y-linked" EXACT [MONDO:patterns/y_linked]
synonym: "disease, Y-linked" EXACT [MONDO:patterns/y_linked]
synonym: "disease, Y-linked genetic" RELATED [MESH:D050174]
synonym: "diseases, Y-linked genetic" RELATED [MESH:D050174]
synonym: "genetic disease, Y-linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y chromosome linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y-chromosome linked" RELATED [MESH:D050174]
synonym: "Y linked genetic diseases" RELATED [MESH:D050174]
synonym: "Y-linked disease or disorder" EXACT [MONDO:design_pattern]
synonym: "Y-linked genetic disease" RELATED [MESH:D050174]
synonym: "Y-linked genetic diseases" RELATED [MESH:D050174]
xref: DOID:0050738 {source="MONDO:equivalentTo"}
xref: MESH:D050174 {source="MONDO:equivalentTo"}
xref: UMLS:C1563751 {source="MONDO:equivalentTo"}
is_a: MONDO:0020606 ! sex-linked disease
property_value: exactMatch DOID:0050738
property_value: exactMatch http://identifiers.org/mesh/D050174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563751

[Term]
id: MONDO:0000429
name: autosomal genetic disease
def: "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." [DOID:0050739, http://ghr.nlm.nih.gov/glossary=autosomaldominant, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]
synonym: "autosomal hereditary disorder" EXACT []
synonym: "autosomal inherited disease" EXACT []
synonym: "autosomal inherited disorder" EXACT []
xref: DOID:0050739 {source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:1899006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265384 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1758"} ! Mendelian disease
property_value: exactMatch DOID:0050739
property_value: exactMatch http://identifiers.org/snomedct/1899006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265384

[Term]
id: MONDO:0000430
name: mature T-cell and NK-cell non-Hodgkin lymphoma
def: "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." [NCIT:C3468]
subset: gard_rare {source="GARD:0007368"}
synonym: "mature T-and NK-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and natural killer cell lymphoma" RELATED [DOID:0050743]
synonym: "mature T-cell and NK-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468]
synonym: "NK-T cell lymphoma" RELATED [DOID:0050743]
synonym: "peripheral T-cell lymphoma" EXACT [MONDO:0000434, NCIT:C3468]
synonym: "PTCL" EXACT [NCIT:C3468]
xref: COHD:434881 {source="MONDO:equivalentTo"}
xref: DOID:0050743 {source="MONDO:equivalentTo"}
xref: DOID:0050749 {source="MONDO:equivalentTo"}
xref: GARD:0007368 {source="MONDO:equivalentTo"}
xref: ICD10:C84.4 {source="MONDO:equivalentTo"}
xref: ICDO:9702/3 {source="NCIT:C3468"}
xref: MESH:D016411 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3468 {source="MONDO:equivalentTo"}
xref: SCTID:109977009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005169 {source="MONDO:Redundant", source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0015760 {source="MESH:D016411", source="MONDO:Redundant", source="MONDOLEX:0000430", source="NCIT:C3468", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma
intersection_of: MONDO:0005169 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells
intersection_of: MONDO:0015760 {source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma
property_value: exactMatch DOID:0050743
property_value: exactMatch DOID:0050749
property_value: exactMatch http://identifiers.org/mesh/D016411
property_value: exactMatch http://identifiers.org/snomedct/109977009
property_value: exactMatch NCIT:C3468
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma xsd:anyURI {source="GARD:0007368"}

[Term]
id: MONDO:0000431
name: obsolete mantle cell lymphoma
is_obsolete: true
replaced_by: MONDO:0018876

[Term]
id: MONDO:0000432
name: lymphoplasmacytic lymphoma
def: "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." [NCIT:P378]
synonym: "Immunocytoma, lymphoplasmacytic type" EXACT [NCIT:C3212]
synonym: "lymphoma, lymphoplasmacytic, malignant" EXACT [NCIT:C3212]
synonym: "lymphoma, plasmacytic" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytic lymphoma" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytoid lymphoma" EXACT [NCIT:C3212]
xref: DOID:0050747 {source="MONDO:equivalentTo"}
xref: ICD10:C88.0 {source="MONDO:superClassOf", source="DOID:0050747"}
xref: ICD9:273.3 {source="MONDO:relatedTo", source="DOID:0050747"}
xref: ICDO:9671/3 {source="NCIT:C3212"}
xref: ICDO:9761/3 {source="NCIT:C3212"}
xref: NCIT:C3212 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LPL {source="MONDO:equivalentTo"}
xref: UMLS:C0334633 {source="MONDO:equivalentTo", source="NCIT:C3212"}
is_a: MONDO:0004095 {source="DOID:0050747", source="NCIT:C3212/inferred"} ! B-cell neoplasm
relationship: disease_has_feature MONDO:0000432 {source="Wikidata"} ! lymphoplasmacytic lymphoma
property_value: closeMatch http://identifiers.org/snomedct/109981009
property_value: closeMatch http://identifiers.org/snomedct/154750002
property_value: closeMatch http://identifiers.org/snomedct/190014001
property_value: closeMatch http://identifiers.org/snomedct/190818004
property_value: closeMatch http://identifiers.org/snomedct/190821002
property_value: closeMatch http://identifiers.org/snomedct/267503004
property_value: closeMatch http://identifiers.org/snomedct/35562000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936755
property_value: closeMatch NCIT:C115212
property_value: exactMatch DOID:0050747
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334633
property_value: exactMatch NCIT:C3212

[Term]
id: MONDO:0000433
name: obsolete marginal zone B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0006495

[Term]
id: MONDO:0000434
name: obsolete peripheral T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0000430

[Term]
id: MONDO:0000435
name: obsolete splenic marginal zone lymphoma
is_obsolete: true
replaced_by: MONDO:0006431

[Term]
id: MONDO:0000436
name: obsolete T-cell large granular lymphocyte leukemia
is_obsolete: true
replaced_by: MONDO:0019469

[Term]
id: MONDO:0000437
name: cerebellar ataxia
def: "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." [https://bestpractice.bmj.com/topics/en-gb/1097]
comment: In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare
subset: ordo_group_of_disorders {source="Orphanet:102002"}
synonym: "ataxia" EXACT AMBIGUOUS []
synonym: "ataxia syndrome" EXACT [MONDO:0015142]
synonym: "ataxia, cerebellar" RELATED [MESH:D002524]
synonym: "ataxias, cerebellar" RELATED [MESH:D002524]
synonym: "cerebellar Ataxias" RELATED [MESH:D002524]
synonym: "cerebellar dysmetria" RELATED [MESH:D002524]
synonym: "cerebellar Dysmetrias" RELATED [MESH:D002524]
synonym: "rare ataxia" RELATED [Orphanet:102002]
synonym: "spinocerebellar ataxia" NARROW []
synonym: "spinocerebellar Degeneration" EXACT [NCIT:C82341]
xref: COHD:435242 {source="MONDO:equivalentTo"}
xref: DOID:0050753 {source="MONDO:equivalentTo"}
xref: GARD:0012060 {source="MONDO:equivalentTo"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C82341 {source="MONDO:equivalentTo"}
xref: Orphanet:102002 {source="MONDO:equivalentTo"}
xref: SCTID:85102008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.72"}
xref: UMLS:C0087012 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0002427 {source="DOID:0050753", source="MESH:D002524", source="linkedlifedata"} ! cerebellar disease
is_a: MONDO:0005395 {source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! rare
property_value: exactMatch DOID:0050753
property_value: exactMatch http://identifiers.org/mesh/D002524
property_value: exactMatch http://identifiers.org/snomedct/85102008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0087012
property_value: exactMatch NCIT:C82341
property_value: exactMatch Orphanet:102002

[Term]
id: MONDO:0000438
name: obsolete ataxia with oculomotor apraxia type 2
is_obsolete: true
replaced_by: MONDO:0018996

[Term]
id: MONDO:0000439
name: obsolete batten disease
is_obsolete: true
replaced_by: MONDO:0019262

[Term]
id: MONDO:0000440
name: metabolic acidosis
xref: DOID:0050758 {source="MONDO:equivalentTo"}
xref: SCTID:59455009 {source="MONDO:equivalentTo"}
is_a: MONDO:0006022 {source="linkedlifedata"} ! acidosis disorder
relationship: excluded_subClassOf MONDO:0006040 {source="DOID:0050758"} ! lactic acidosis
property_value: exactMatch DOID:0050758
property_value: exactMatch http://identifiers.org/snomedct/59455009

[Term]
id: MONDO:0000441
name: obsolete X-linked myopathy with excessive autophagy
is_obsolete: true
replaced_by: MONDO:0010684

[Term]
id: MONDO:0000442
name: obsolete paramyloidosis
is_obsolete: true
replaced_by: MONDO:0007100

[Term]
id: MONDO:0000443
name: obsolete adenylosuccinase lyase deficiency
is_obsolete: true
replaced_by: MONDO:0007068

[Term]
id: MONDO:0000444
name: obsolete ARC syndrome
synonym: "pericyte cell syndromic disease" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0017123

[Term]
id: MONDO:0000445
name: obsolete neuroacanthocytosis
is_obsolete: true
replaced_by: MONDO:0016987

[Term]
id: MONDO:0000446
name: midface dysplasia
xref: DOID:0050767 {source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0050767"} ! osteochondrodysplasia
property_value: exactMatch DOID:0050767

[Term]
id: MONDO:0000447
name: autosomal dominant polycystic liver disease
def: "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." [GARD:0009457]
synonym: "AD polycystic liver disease" EXACT [] {source="https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/"}
synonym: "ADPLD" EXACT [] {source="https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/"}
synonym: "congenital cystic liver disease" RELATED [DOID:0050770]
synonym: "congenital hepatic cyst" RELATED [DOID:0050770]
synonym: "fibrocystic liver disease" RELATED [DOID:0050770]
synonym: "PCLD" EXACT [] {shorthand="GARD:0009457"}
synonym: "polycystic liver disease" EXACT [MONDO:ambiguous]
xref: DOID:0050770 {source="MONDO:equivalentTo"}
xref: GARD:0009457 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0006557 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:751.62 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C82833 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:174050 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:72925005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.72"}
xref: UMLS:C0158683 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C82833", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0050770", source="OMIMPS:174050"} ! autosomal dominant disease
is_a: MONDO:0005154 {source="MONDO:cjm"} ! liver disease
property_value: exactMatch DOID:0050770
property_value: exactMatch http://identifiers.org/mesh/C536330
property_value: exactMatch http://identifiers.org/snomedct/72925005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158683
property_value: exactMatch NCIT:C82833
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease xsd:string {source="GARD:0009457"}

[Term]
id: MONDO:0000448
name: paraganglioma
def: "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." [NCIT:C3308]
synonym: "chemodectoma" NARROW [DOID:0050773]
synonym: "neoplasm of paraganglion" EXACT [NCIT:C3308]
synonym: "neoplasm of the paraganglion" EXACT [NCIT:C3308]
synonym: "paraganglioma" EXACT [NCIT:C3308]
synonym: "paragangliomas" EXACT [OMIMPS:168000]
synonym: "paraganglion neoplasm" EXACT [NCIT:C3308]
synonym: "paraganglion tumor" EXACT [NCIT:C3308]
synonym: "Paraganglionic neoplasm" EXACT [NCIT:C3308]
synonym: "Paraganglionic tumor" EXACT [NCIT:C3308]
synonym: "tumor of paraganglion" EXACT [NCIT:C3308]
synonym: "tumor of the paraganglion" EXACT [NCIT:C3308]
xref: DOID:0050773 {source="MONDO:equivalentTo"}
xref: EFO:1000453 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8680/1 {source="NCIT:C3308"}
xref: MESH:D010235 {source="DOID:0050773", source="MONDO:equivalentTo"}
xref: NCIT:C3308 {source="DOID:0050773", source="MONDO:equivalentTo"}
xref: OMIMPS:168000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ONCOTREE:PGNG {source="MONDO:equivalentTo"}
xref: SCTID:127027008 {source="DOID:0050773", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0030421 {source="NCIT:C3308", source="DOID:0050773", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002366 {source="MONDO:Redundant", source="NCIT:C3308"} ! autonomic nervous system neoplasm
is_a: MONDO:0019496 {source="DOID:0050773", source="MESH:D010235", source="MONDO:Redundant", source="NCIT:C3308"} ! neuroendocrine neoplasm
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
property_value: closeMatch http://identifiers.org/snomedct/189743009
property_value: closeMatch http://identifiers.org/snomedct/253029009
property_value: closeMatch http://identifiers.org/snomedct/302833002
property_value: closeMatch http://identifiers.org/snomedct/72787006
property_value: closeMatch http://identifiers.org/snomedct/803009
property_value: exactMatch DOID:0050773
property_value: exactMatch http://identifiers.org/mesh/D010235
property_value: exactMatch http://identifiers.org/snomedct/127027008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030421
property_value: exactMatch NCIT:C3308

[Term]
id: MONDO:0000449
name: obsolete Opitz-GBBB syndrome
is_obsolete: true
replaced_by: MONDO:0017138

[Term]
id: MONDO:0000450
name: secondary progressive multiple sclerosis
def: "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase." [PMID:27166830]
synonym: "secondary-progressive MS" EXACT [DOID:0050783, PMID:27166830]
synonym: "SPMS" EXACT [DOID:0050783, PMID:27166830]
xref: DOID:0050783 {source="MONDO:equivalentTo"}
xref: EFO:0008522 {source="MONDO:equivalentTo"}
xref: SCTID:425500002 {source="DOID:0050783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751965 {source="DOID:0050783", source="MONDO:equivalentTo"}
is_a: MONDO:0005284 ! chronic progressive multiple sclerosis
property_value: exactMatch DOID:0050783
property_value: exactMatch http://identifiers.org/snomedct/425500002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751965

[Term]
id: MONDO:0000451
name: primary progressive multiple sclerosis
def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [DOID:0050784, http://www.mayoclinic.org/multiple-sclerosis/types.html, http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx]
synonym: "PPMS" EXACT [DOID:0050784]
synonym: "primary-progressive MS" EXACT [DOID:0050784]
xref: DOID:0050784 {source="MONDO:equivalentTo"}
xref: EFO:0008520 {source="MONDO:equivalentTo"}
xref: SCTID:428700003 {source="DOID:0050784", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751964 {source="DOID:0050784", source="MONDO:equivalentTo"}
is_a: MONDO:0005284 ! chronic progressive multiple sclerosis
property_value: exactMatch DOID:0050784
property_value: exactMatch http://identifiers.org/snomedct/428700003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751964

[Term]
id: MONDO:0000452
name: progressive relapsing multiple sclerosis
def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." [DOID:0050785, http://www.mayoclinic.org/multiple-sclerosis/types.html, http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx]
synonym: "PRMS" EXACT [DOID:0050785]
synonym: "progressive-relapsing MS" EXACT [DOID:0050785]
xref: DOID:0050785 {source="MONDO:equivalentTo"}
xref: SCTID:230374002 {source="DOID:0050785", source="MONDO:equivalentTo"}
xref: UMLS:C0393666 {source="DOID:0050785", source="MONDO:equivalentTo"}
is_a: MONDO:0005284 ! chronic progressive multiple sclerosis
property_value: exactMatch DOID:0050785
property_value: exactMatch http://identifiers.org/snomedct/230374002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393666

[Term]
id: MONDO:0000453
name: short QT syndrome
def: "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" [https://en.wikipedia.org/wiki/Short_QT_syndrome]
subset: ordo_disease {source="Orphanet:51083"}
subset: prototype_pattern
synonym: "familial short QT syndrome" RELATED [Orphanet:51083]
synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060]
xref: DOID:0050793 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="ORDO:51083/attributed", source="ORDO:51083/ntbt", source="Orphanet:51083"}
xref: ICD9:426.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580439 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C71060 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:609620 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:51083 {source="MONDO:equivalentTo", source="OMIM:609620"}
xref: SCTID:698272007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2348199 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C71060"}
is_a: MONDO:0000992 {source="DOID:0050793"} ! heart conduction disease
property_value: exactMatch DOID:0050793
property_value: exactMatch http://identifiers.org/mesh/C580439
property_value: exactMatch http://identifiers.org/snomedct/698272007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2348199
property_value: exactMatch NCIT:C71060
property_value: exactMatch Orphanet:51083

[Term]
id: MONDO:0000454
name: obsolete multiple synostoses syndrome
is_obsolete: true
replaced_by: MONDO:0017923

[Term]
id: MONDO:0000455
name: cone dystrophy
def: "an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [http://en.wikipedia.org/wiki/Cone_dystrophy]
subset: ordo_disease {source="Orphanet:1871"}
synonym: "cone dystrophy" EXACT [Orphanet:1871]
synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871]
synonym: "retinal cone dystrophy" RELATED [DOID:0050795]
synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/]
xref: DOID:0050795 {source="MONDO:equivalentTo"}
xref: GARD:0011897 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:subClassOf", source="Orphanet:1871", source="ORDO:1871/attributed", source="ORDO:1871/ntbt"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1871 {source="MONDO:equivalentTo"}
xref: SCTID:312917007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0730290 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="Orphanet:1871"} ! genetic macular dystrophy
property_value: exactMatch DOID:0050795
property_value: exactMatch http://identifiers.org/snomedct/312917007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730290
property_value: exactMatch Orphanet:1871

[Term]
id: MONDO:0000456
name: cerebral creatine deficiency syndrome
def: "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." [Orphanet:79172]
subset: ordo_group_of_disorders {source="Orphanet:79172"}
synonym: "CCDS" EXACT [Orphanet:79172]
synonym: "CDS" EXACT [Orphanet:79172]
synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172]
synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221]
xref: DOID:0050798 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="Orphanet:79172", source="ORDO:79172/attributed", source="ORDO:79172/ntbt"}
xref: OMIMPS:300352 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79172 {source="MONDO:equivalentTo"}
xref: UMLS:CN227588 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004736 {source="DOID:0050798", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder
is_a: MONDO:0016401 {source="Orphanet:79172"} ! energy metabolism disorder with epilepsy
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch DOID:0050798
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227588
property_value: exactMatch Orphanet:79172

[Term]
id: MONDO:0000457
name: classical glioblastoma
def: "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification." [NCIT:C111694]
synonym: "classical glioblastoma" EXACT [NCIT:C111694]
synonym: "glioblastoma classical subtype" RELATED [DOID:0050803]
xref: DOID:0050803 {source="MONDO:equivalentTo"}
xref: NCIT:C111694 {source="MONDO:equivalentTo"}
xref: UMLS:C3827253 {source="MONDO:equivalentTo", source="NCIT:C111694"}
is_a: MONDO:0018177 {source="DOID:0050803", source="NCIT:C111694/inferred", source="indirect-via-NCIT:C111691"} ! glioblastoma (disease)
property_value: exactMatch DOID:0050803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3827253
property_value: exactMatch NCIT:C111694

[Term]
id: MONDO:0000458
name: proneural glioblastoma
def: "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications." [NCIT:C111692]
synonym: "glioblastoma proneural subtype" RELATED [DOID:0050804]
synonym: "proneural glioblastoma" EXACT [NCIT:C111692]
xref: DOID:0050804 {source="MONDO:equivalentTo"}
xref: NCIT:C111692 {source="MONDO:equivalentTo"}
xref: UMLS:C3828464 {source="MONDO:equivalentTo", source="NCIT:C111692"}
is_a: MONDO:0018177 {source="DOID:0050804", source="NCIT:C111692/inferred", source="indirect-via-NCIT:C111691"} ! glioblastoma (disease)
property_value: exactMatch DOID:0050804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3828464
property_value: exactMatch NCIT:C111692

[Term]
id: MONDO:0000459
name: mesenchymal glioblastoma
def: "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." [NCIT:C111695]
synonym: "glioblastoma mesenchymal subtype" RELATED [DOID:0050805]
synonym: "mesenchymal glioblastoma" EXACT [NCIT:C111695]
xref: DOID:0050805 {source="MONDO:equivalentTo"}
xref: NCIT:C111695 {source="MONDO:equivalentTo"}
xref: UMLS:C3829122 {source="MONDO:equivalentTo", source="NCIT:C111695"}
is_a: MONDO:0018177 {source="DOID:0050805", source="NCIT:C111695/inferred", source="indirect-via-NCIT:C111691"} ! glioblastoma (disease)
property_value: exactMatch DOID:0050805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3829122
property_value: exactMatch NCIT:C111695

[Term]
id: MONDO:0000460
name: neural glioblastoma
def: "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." [NCIT:C111693]
synonym: "glioblastoma neural subtype" RELATED [DOID:0050806]
synonym: "neural glioblastoma" EXACT [NCIT:C111693]
xref: DOID:0050806 {source="MONDO:equivalentTo"}
xref: NCIT:C111693 {source="MONDO:equivalentTo"}
xref: UMLS:C3828832 {source="MONDO:equivalentTo", source="NCIT:C111693"}
is_a: MONDO:0018177 {source="DOID:0050806", source="NCIT:C111693/inferred", source="indirect-via-NCIT:C111691"} ! glioblastoma (disease)
property_value: exactMatch DOID:0050806
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3828832
property_value: exactMatch NCIT:C111693

[Term]
id: MONDO:0000461
name: nutritional biotin deficiency
comment: Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this?
synonym: "B7 deficiency" BROAD [DOID:0050810]
synonym: "biotin deficiency" BROAD [DOID:0050810]
synonym: "biotin deficiency disease" BROAD []
synonym: "vitamine B7 deficiency" BROAD [GO:0006768]
xref: DOID:0050810 {source="MONDO:equivalentTo"}
xref: MESH:C531633 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:49607006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020699 ! biotin metabolic disease
is_a: MONDO:0024298 {source="linkedlifedata"} ! vitamin deficiency disorder
property_value: exactMatch DOID:0050810
property_value: exactMatch http://identifiers.org/mesh/C531633
property_value: exactMatch http://identifiers.org/snomedct/49607006

[Term]
id: MONDO:0000462
name: eye adnexa disease
def: "A disease involving the ocular adnexa." [MONDO:patterns/location_top]
synonym: "disease of ocular adnexa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ocular adnexa" EXACT []
synonym: "disorder of ocular adnexa" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ocular adnexa" RELATED [MONDO:patterns/location_top]
synonym: "ocular adnexa disease" EXACT [MONDO:patterns/location]
synonym: "ocular adnexa disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050815 {source="MONDO:equivalentTo"}
xref: ICD10:H00.H06 {source="MONDO:equivalentTo"}
xref: SCTID:118941004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290855 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002022 {source="DOID:0050815", source="ICD10:H00.H06", source="MONDO:Redundant", source="linkedlifedata"} ! disease of orbital region
property_value: exactMatch DOID:0050815
property_value: exactMatch http://identifiers.org/snomedct/118941004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290855

[Term]
id: MONDO:0000463
name: Ochoa syndrome
def: "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." [Orphanet:2704]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2704"}
synonym: "hydronephrosis with peculiar facial expression" EXACT [DOID:0050816]
synonym: "hydronephrosis-inverted smile syndrome" EXACT [Orphanet:2704]
synonym: "inverted smile and occult neuropathic bladder" RELATED [GARD:0000104]
synonym: "inverted smile-neurogenic bladder syndrome" EXACT [Orphanet:2704]
synonym: "Ochoa syndrome" EXACT [DOID:0050816, Orphanet:2704]
synonym: "partial facial palsy with urinary abnormalities" EXACT [GARD:0000104, Orphanet:2704]
synonym: "UFS" RELATED [GARD:0000104]
synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104]
synonym: "urofacial syndrome" EXACT [Orphanet:2704]
xref: DOID:0050816 {source="MONDO:equivalentTo"}
xref: GARD:0000104 {source="MONDO:equivalentTo"}
xref: ICD10:N31.8 {source="ORDO:2704/attributed", source="ORDO:2704/ntbt", source="Orphanet:2704"}
xref: MESH:C536480 {source="MONDO:equivalentTo", source="Orphanet:2704", source="ORDO:2704/e"}
xref: OMIMPS:236730 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2704 {source="MONDO:equivalentTo", source="GARD:0000104", source="OMIM:236730"}
xref: SCTID:236533008 {source="MONDO:kboom-pr-0.92/0.67/1.64", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050816", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019721 {source="Orphanet:2704"} ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0050816
property_value: exactMatch http://identifiers.org/mesh/C536480
property_value: exactMatch http://identifiers.org/snomedct/236533008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403555
property_value: exactMatch Orphanet:2704

[Term]
id: MONDO:0000464
name: obsolete Stargardt disease
is_obsolete: true
replaced_by: MONDO:0019353

[Term]
id: MONDO:0000465
name: atrioventricular block (disease)
def: "A heart block that is initiated in the atrioventricular node." [https://en.wikipedia.org/wiki/Atrioventricular_block, MONDO:cjm]
synonym: "atrioventricular block" EXACT [MONDO:ambiguous]
synonym: "AV block" EXACT [DOID:0050820, https://en.wikipedia.org/wiki/Atrioventricular_block]
synonym: "AV nodal block" EXACT [https://en.wikipedia.org/wiki/Heart_block]
synonym: "AVB" EXACT [https://en.wikipedia.org/wiki/Atrioventricular_block]
xref: COHD:316135 {source="MONDO:equivalentTo"}
xref: DOID:0050820 {source="MONDO:equivalentTo"}
xref: HP:0001678 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I44.3 {source="DOID:0050820"}
xref: ICD10:I44.30 {source="DOID:0050820"}
xref: ICD9:426.10 {source="MONDO:equivalentTo", source="DOID:0050820", source="i2s"}
xref: MESH:D054537 {source="MONDO:equivalentTo", source="DOID:0050820", source="MONDO:ontobio"}
xref: SCTID:233917008 {source="MONDO:equivalentTo", source="DOID:0050820", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0004245 {source="MONDO:equivalentTo", source="DOID:0050820"}
is_a: MONDO:0005476 ! atrioventricular node disease
is_a: MONDO:0008848 {source="MESH:D054537"} ! atrioventricular dissociation (disease)
is_a: MONDO:0020755 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/Heart_block"} ! heart block
property_value: closeMatch http://identifiers.org/snomedct/195040005
property_value: closeMatch http://identifiers.org/snomedct/195043007
property_value: closeMatch http://identifiers.org/snomedct/58547007
property_value: exactMatch DOID:0050820
property_value: exactMatch http://identifiers.org/mesh/D054537
property_value: exactMatch http://identifiers.org/snomedct/233917008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004245
property_value: exactMatch NCIT:C26703

[Term]
id: MONDO:0000466
name: first-degree atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." [NCIT:C62015]
synonym: "atrioventricular block first degree" EXACT [NCIT:C62015]
synonym: "atrioventricular block, first degree" EXACT [NCIT:C62015]
synonym: "AV block first degree" EXACT [NCIT:C62015]
synonym: "first degree atrioventricular block" EXACT [NCIT:C62015]
synonym: "first degree AV block" EXACT [NCIT:C62015]
xref: COHD:314379 {source="MONDO:equivalentTo"}
xref: DOID:0050821 {source="MONDO:equivalentTo"}
xref: ICD9:426.11 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C62015 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: SCTID:270492004 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0085614 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C62015"}
is_a: MONDO:0000465 {source="DOID:0050821", source="linkedlifedata", source="linkedlifedata/inferred"} ! atrioventricular block (disease)
is_a: MONDO:0015110 ! genetic cardiac rhythm disease
property_value: exactMatch DOID:0050821
property_value: exactMatch http://identifiers.org/snomedct/270492004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085614
property_value: exactMatch NCIT:C62015

[Term]
id: MONDO:0000467
name: second-degree atrioventricular block
def: "Intermittent failure of atrial electrical impulse conduction to the ventricles." [NCIT:C111119]
synonym: "atrioventricular block second degree" EXACT [NCIT:C111119]
synonym: "atrioventricular block, second degree" EXACT [NCIT:C111119]
synonym: "AV block second degree" EXACT [NCIT:C111119]
synonym: "second degree atrioventricular block" EXACT [NCIT:C111119]
synonym: "second degree AV block" EXACT [NCIT:C111119]
synonym: "second-degree heart block" EXACT [DOID:0050822]
xref: COHD:318448 {source="MONDO:equivalentTo"}
xref: DOID:0050822 {source="MONDO:equivalentTo"}
xref: ICD9:426.13 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C111119 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: SCTID:195042002 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
xref: UMLS:C0264906 {source="NCIT:C111119", source="MONDO:equivalentTo"}
xref: UMLS:C1621824 {source="MONDO:equivalentTo"}
is_a: MONDO:0000465 {source="DOID:0050822", source="linkedlifedata", source="linkedlifedata/inferred"} ! atrioventricular block (disease)
is_a: MONDO:0015110 ! genetic cardiac rhythm disease
property_value: exactMatch DOID:0050822
property_value: exactMatch http://identifiers.org/snomedct/195042002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621824
property_value: exactMatch NCIT:C111119

[Term]
id: MONDO:0000468
name: third-degree atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" [NCIT:C50501]
synonym: "atrioventricular block complete" EXACT [NCIT:C50501]
synonym: "atrioventricular block, third degree" EXACT [NCIT:C50501]
synonym: "AV block third degree" EXACT [NCIT:C50501]
synonym: "complete atrioventricular block" EXACT [NCIT:C50501]
synonym: "complete AV block" EXACT [DOID:0050823]
synonym: "complete heart block" EXACT [NCIT:C50501]
synonym: "non-congenital complete atrioventricular block" EXACT [NCIT:C50501]
synonym: "third degree atrioventricular block" EXACT [NCIT:C50501]
synonym: "third degree AV block" EXACT [NCIT:C50501]
xref: DOID:0050823 {source="MONDO:equivalentTo"}
xref: ICD9:426.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C50501 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:27885002 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0151517 {source="NCIT:C50501", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000465 {source="DOID:0050823", source="linkedlifedata"} ! atrioventricular block (disease)
is_a: MONDO:0015110 ! genetic cardiac rhythm disease
property_value: exactMatch DOID:0050823
property_value: exactMatch http://identifiers.org/snomedct/27885002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151517
property_value: exactMatch NCIT:C50501

[Term]
id: MONDO:0000469
name: sinoatrial node disease
def: "A disease involving the sinoatrial node." [MONDO:DesignPattern]
synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sinoatrial node" EXACT []
synonym: "disorder of sinoatrial node" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sinoatrial node" RELATED [MONDO:patterns/location_top]
synonym: "SA node" RELATED [DOID:0050824]
synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location]
synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sinuatrial node" RELATED [DOID:0050824]
xref: DOID:0050824 {source="MONDO:equivalentTo"}
is_a: MONDO:0000992 {source="DOID:0050824"} ! heart conduction disease
is_a: MONDO:0005449 ! conduction system disorder
property_value: exactMatch DOID:0050824

[Term]
id: MONDO:0000470
name: endocardium disease
def: "A disease involving the endocardium." [MONDO:DesignPattern]
synonym: "disease of endocardium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocardium" EXACT []
synonym: "disorder of endocardium" EXACT [MONDO:patterns/location_top]
synonym: "disorder of endocardium" RELATED [MONDO:patterns/location_top]
synonym: "endocardial disease" EXACT []
synonym: "endocardiopathy" RELATED []
synonym: "endocardium disease" EXACT [MONDO:patterns/location]
synonym: "endocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050825 {source="MONDO:equivalentTo"}
xref: SCTID:123596001 {source="MONDO:equivalentTo"}
xref: UMLS:C0854140 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:0050825", source="MONDO:Redundant", source="linkedlifedata"} ! heart disease
property_value: exactMatch DOID:0050825
property_value: exactMatch http://identifiers.org/snomedct/123596001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854140

[Term]
id: MONDO:0000471
name: tricuspid valve disease
def: "A disease involving the tricuspid valve." [MONDO:DesignPattern]
synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM_2006:397.0, MONDO:patterns/location_top]
synonym: "disease or disorder of tricuspid valve" EXACT []
synonym: "disorder of tricuspid valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of tricuspid valve" RELATED [MONDO:patterns/location_top]
synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826]
synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826]
synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826]
synonym: "tricuspid disease" EXACT [DOID:0050826, MTHICD9_2006:397.0]
synonym: "tricuspid valve disease" EXACT [MONDO:patterns/location]
synonym: "tricuspid valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tricuspid valve disorder" EXACT [NCIT:C78649]
xref: DOID:0050826 {source="MONDO:equivalentTo"}
xref: ICD10:I07 {source="DOID:0050826"}
xref: ICD10:I07.9 {source="DOID:0050826"}
xref: ICD9:397.0 {source="DOID:0050826", source="linkedlifedata"}
xref: NCIT:C78649 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:20721001 {source="MONDO:equivalentTo"}
xref: UMLS:C0264776 {source="MONDO:equivalentTo", source="DOID:0050826"}
xref: UMLS:C0264882 {source="NCIT:C78649", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002869 {source="DOID:0050826", source="MONDO:Redundant", source="NCIT:C78649", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart valve disease
property_value: closeMatch http://identifiers.org/snomedct/155289000
property_value: closeMatch http://identifiers.org/snomedct/194745002
property_value: closeMatch http://identifiers.org/snomedct/266282000
property_value: closeMatch http://identifiers.org/snomedct/49699002
property_value: exactMatch DOID:0050826
property_value: exactMatch http://identifiers.org/snomedct/20721001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264882
property_value: exactMatch NCIT:C78649

[Term]
id: MONDO:0000472
name: obsolete rheumatic heart disease
is_obsolete: true
replaced_by: MONDO:0006955

[Term]
id: MONDO:0000473
name: arterial disorder
def: "An impairment of the structure or function of the blood vessels which carry blood away from the heart." [NCIT:C35317]
synonym: "arterial disease" EXACT [NCIT:C35317]
synonym: "arterial disorder" EXACT [NCIT:C35317]
synonym: "arteriopathy" EXACT [NCIT:C35317]
synonym: "artery disease" EXACT [MONDO:patterns/location]
synonym: "artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of artery" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of artery" EXACT []
synonym: "disorder of artery" EXACT [MONDO:patterns/location_top]
synonym: "disorder of artery" RELATED [MONDO:patterns/location_top]
xref: DOID:0050828 {source="MONDO:equivalentTo"}
xref: ICD9:447.8 {source="linkedlifedata"}
xref: ICD9:447.9 {source="linkedlifedata"}
xref: NCIT:C35317 {source="MONDO:equivalentTo"}
xref: SCTID:359557001 {source="MONDO:equivalentTo"}
xref: UMLS:C0852949 {source="MONDO:equivalentTo", source="NCIT:C35317"}
is_a: MONDO:0005385 {source="DOID:0050828", source="MONDO:Redundant", source="NCIT:C35317/inferred", source="linkedlifedata"} ! vascular disease
property_value: exactMatch DOID:0050828
property_value: exactMatch http://identifiers.org/snomedct/359557001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852949
property_value: exactMatch NCIT:C35317

[Term]
id: MONDO:0000474
name: pericardium disease
def: "A disease involving the pericardium." [MONDO:DesignPattern]
synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pericardium" EXACT []
synonym: "disorder of pericardium" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pericardium" RELATED [MONDO:patterns/location_top]
synonym: "pericardium disease" EXACT [MONDO:patterns/location]
synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050829 {source="MONDO:equivalentTo"}
xref: ICD9:423.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:423.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:55855009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265122 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
property_value: exactMatch DOID:0050829
property_value: exactMatch http://identifiers.org/snomedct/55855009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265122

[Term]
id: MONDO:0000475
name: obsolete pyrimidine metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019238

[Term]
id: MONDO:0000476
name: generalized dystonia
comment: Editor note: TODO
synonym: "childhood torsion disease" RELATED [MESH:D004422]
synonym: "dystonia 12" RELATED [DOID:0050835]
synonym: "dystonia deformans musculorum" RELATED [MESH:D004422]
synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370, DOID:0050835]
synonym: "dystonia deformans progressiva" RELATED [MESH:D004422]
synonym: "dystonia musculorum deformans" RELATED [DOID:0050835]
synonym: "dystonia, Idiopathic torsion" RELATED [MESH:D004422]
synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422]
synonym: "dystonias, torsion" RELATED [MESH:D004422]
synonym: "familial dystonia" RELATED [DOID:0050835]
synonym: "fragments of torsion dystonia" RELATED [DOID:0050835]
synonym: "idiopathic familial dystonia" RELATED [DOID:0050835]
synonym: "idiopathic non-familial dystonia" RELATED [DOID:0050835]
synonym: "Idiopathic torsion dystonia" RELATED [MESH:D004422]
synonym: "idiopathic torsion dystonia" RELATED [DOID:0050835, ICD9CM_2006:333.6]
synonym: "Idiopathic torsion dystonias" RELATED [MESH:D004422]
synonym: "Oppenheim Ziehen disease" RELATED [MESH:D004422]
synonym: "Oppenheim-Ziehen disease" RELATED [MESH:D004422]
synonym: "Progressive torsion spasm" RELATED [MESH:D004422]
synonym: "spasm, Progressive torsion" RELATED [MESH:D004422]
synonym: "symptomatic torsion dystonia" RELATED [DOID:0050835]
synonym: "torsion disease of childhood" RELATED [MESH:D004422]
synonym: "torsion disease, childhood" RELATED [MESH:D004422]
synonym: "torsion dystonia" RELATED [https://en.wikipedia.org/wiki/Dystonia#Generalized_dystonias, MESH:D004422]
synonym: "torsion dystonia, Idiopathic" RELATED [MESH:D004422]
synonym: "torsion spasm, Progressive" RELATED [MESH:D004422]
xref: DOID:0050835 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="DOID:0050835"}
xref: ICD10:G24.2 {source="DOID:0050835"}
xref: ICD9:333.6 {source="DOID:0050835"}
xref: ICD9:333.8 {source="DOID:0050835"}
xref: ICD9:333.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004422 {source="MONDO:equivalentTo", source="DOID:0050835"}
xref: SCTID:425492002 {source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0050835", source="MESH:D004422", source="linkedlifedata"} ! dystonic disorder
property_value: closeMatch http://identifiers.org/snomedct/155008004
property_value: closeMatch http://identifiers.org/snomedct/192852006
property_value: closeMatch http://identifiers.org/snomedct/192853001
property_value: closeMatch http://identifiers.org/snomedct/192858005
property_value: closeMatch http://identifiers.org/snomedct/192859002
property_value: closeMatch http://identifiers.org/snomedct/192862004
property_value: closeMatch http://identifiers.org/snomedct/267584007
property_value: closeMatch http://identifiers.org/snomedct/55776008
property_value: closeMatch http://identifiers.org/snomedct/57937000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154674
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154675
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393598
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393601
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752207
property_value: exactMatch DOID:0050835
property_value: exactMatch http://identifiers.org/mesh/D004422
property_value: exactMatch http://identifiers.org/snomedct/425492002

[Term]
id: MONDO:0000477
name: focal dystonia
def: "A dystonia that is localized to a specific part of the body." [DOID:0050836, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050836 {source="MONDO:equivalentTo"}
xref: SCTID:445006008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0743332 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0050836", source="linkedlifedata"} ! dystonic disorder
property_value: exactMatch DOID:0050836
property_value: exactMatch http://identifiers.org/snomedct/445006008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0743332

[Term]
id: MONDO:0000478
name: multifocal dystonia
def: "A dystonia that involves two or more unrelated body parts." [DOID:0050837, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050837 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0050837"} ! dystonic disorder
property_value: exactMatch DOID:0050837

[Term]
id: MONDO:0000479
name: segmental dystonia
def: "A dystonia that affects two or more adjacent parts of the body." [DOID:0050838, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050838 {source="MONDO:equivalentTo"}
xref: ICD9:333.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:427945008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1997740 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0050838", source="linkedlifedata"} ! dystonic disorder
property_value: exactMatch DOID:0050838
property_value: exactMatch http://identifiers.org/snomedct/427945008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997740

[Term]
id: MONDO:0000480
name: anismus
def: "A focal dystonia of the pelvic floor muscles during attempted defecation." [https://en.wikipedia.org/wiki/Anismus]
synonym: "anal region skeletal muscle focal dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dyskinetic puborectalis" RELATED [https://en.wikipedia.org/wiki/Anismus]
synonym: "dyssynergic defecation" RELATED [https://en.wikipedia.org/wiki/Anismus]
synonym: "focal dystonia of anal region skeletal muscle" EXACT [MONDO:design_pattern]
synonym: "puborectalis syndrome" RELATED [https://en.wikipedia.org/wiki/Anismus]
synonym: "rectosphincteric dyssynergia" RELATED []
synonym: "spastic pelvic floor syndrome" RELATED []
synonym: "sphincteric disobedience syndrome" RELATED []
xref: DOID:0050839 {source="MONDO:equivalentTo"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:83605009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0267601 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0050839", source="MONDO:Redundant", source="https://en.wikipedia.org/wiki/Anismus"} ! focal dystonia
is_a: MONDO:0020120 ! skeletal muscle disease
property_value: exactMatch DOID:0050839
property_value: exactMatch http://identifiers.org/snomedct/83605009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267601

[Term]
id: MONDO:0000481
name: cervical dystonia
def: "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement ( tremor ) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL , THAP1 , CIZ1 , and ANO3 . Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin , pain medications, benzodiazepines (anti-anxiety medications), anticholinergics ,physical therapy, or surgery." [https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia]
subset: gard_rare {source="GARD:0010668"}
synonym: "spasmodic torticollis" RELATED [DOID:0050840]
xref: COHD:376387 {source="MONDO:equivalentTo"}
xref: DOID:0050840 {source="MONDO:equivalentTo"}
xref: GARD:0010668 {source="MONDO:equivalentTo"}
xref: ICD9:333.83 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C85072 {source="MONDO:equivalentTo"}
xref: Orphanet:93962 {source="MONDO:equivalentTo"}
xref: SCTID:74333002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.54"}
is_a: MONDO:0000477 {source="DOID:0050840", source="https://en.wikipedia.org/wiki/Dystonia", source="linkedlifedata", source="linkedlifedata/inferred"} ! focal dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152116
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949445
property_value: exactMatch DOID:0050840
property_value: exactMatch http://identifiers.org/snomedct/74333002
property_value: exactMatch NCIT:C85072
property_value: exactMatch Orphanet:93962
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia xsd:anyURI {source="GARD:0010668"}

[Term]
id: MONDO:0000482
name: focal hand dystonia
def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [DOID:0050841, http://en.wikipedia.org/wiki/Dystonia]
synonym: "hand and arm dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "organic writer's cramp" RELATED [DOID:0050841]
synonym: "writer's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0050841 {source="MONDO:equivalentTo"}
xref: ICD9:333.84 {source="DOID:0050841", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:52008007 {source="DOID:0050841", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0154676 {source="DOID:0050841", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0050841", source="linkedlifedata"} ! focal dystonia
property_value: closeMatch http://identifiers.org/snomedct/155009007
property_value: closeMatch http://identifiers.org/snomedct/267690000
property_value: closeMatch http://identifiers.org/snomedct/79994003
property_value: exactMatch DOID:0050841
property_value: exactMatch http://identifiers.org/snomedct/52008007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154676

[Term]
id: MONDO:0000483
name: oculogyric crisis
def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [DOID:0050842, http://en.wikipedia.org/wiki/Oculogyric_crisis]
xref: DOID:0050842 {source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0050842", source="https://en.wikipedia.org/wiki/Dystonia"} ! focal dystonia
property_value: exactMatch DOID:0050842

[Term]
id: MONDO:0000484
name: obsolete oromandibular dystonia
is_obsolete: true
replaced_by: MONDO:0019771

[Term]
id: MONDO:0000485
name: spasmodic dystonia
def: "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." [https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
synonym: "abductor spasmodic dysphonia" NARROW [GARD:0007668]
synonym: "adductor spasmodic dysphonia" NARROW [GARD:0007668]
synonym: "laryngeal dyskinesia" EXACT [GARD:0007668]
synonym: "laryngeal dystonia" EXACT [DOID:0050844, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
synonym: "mixed spasmodic dysphonia (type)" RELATED [GARD:0007668]
synonym: "spasmodic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
synonym: "spastic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
xref: DOID:0050844 {source="MONDO:equivalentTo"}
xref: GARD:0007668 {source="MONDO:equivalentTo"}
xref: ICD9:478.79 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D055154 {source="MONDO:equivalentTo"}
xref: Orphanet:93961 {source="MONDO:equivalentTo"}
xref: SCTID:3331000119108 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1963946 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0050844", source="https://en.wikipedia.org/wiki/Dystonia", source="linkedlifedata"} ! focal dystonia
is_a: MONDO:0004382 ! laryngeal disease
property_value: exactMatch DOID:0050844
property_value: exactMatch http://identifiers.org/mesh/D055154
property_value: exactMatch http://identifiers.org/snomedct/3331000119108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1963946
property_value: exactMatch Orphanet:93961

[Term]
id: MONDO:0000486
name: craniofacial dystonia
alt_id: MONDO:0022885
def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [DOID:0050845, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
subset: gard_rare
synonym: "cranio-facial dystonia" EXACT [DOID:0050845]
xref: DOID:0050845 {source="MONDO:equivalentTo"}
xref: GARD:0010667 {source="MONDO:equivalentTo"}
xref: UMLS:C4023011 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0050845"} ! focal dystonia
property_value: exactMatch DOID:0050845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4023011
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia xsd:anyURI {source="GARD:0010667"}

[Term]
id: MONDO:0000487
name: hemidystonia
def: "A multifocal dystonia that involves the arm and leg on the same side of the body." [DOID:0050846, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050846 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:427232004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1960561 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000478 {source="DOID:0050846"} ! multifocal dystonia
property_value: exactMatch DOID:0050846
property_value: exactMatch http://identifiers.org/snomedct/427232004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960561

[Term]
id: MONDO:0000488
name: periampullary adenoma
def: "A adenoma that involves the periampullary region of duodenum." [MONDO:patterns/location]
synonym: "periampullary region of duodenum adenoma" EXACT [MONDO:patterns/location]
xref: DOID:0050849 {source="MONDO:equivalentTo"}
xref: UMLS:CN068444 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021303 ! adenoma of small intestine
is_a: MONDO:0021375 ! tumor of duodenum
relationship: excluded_subClassOf MONDO:0000921 {source="DOID:0050849"} ! ampulla of vater neoplasm
property_value: exactMatch DOID:0050849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN068444

[Term]
id: MONDO:0000489
name: diabetic encephalopathy
def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." [DOID:0050850, http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1, PMID:20798963]
xref: DOID:0050850 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:0050850", source="MONDO:Redundant"} ! brain disease
intersection_of: MONDO:0005560 ! brain disease
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
relationship: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
property_value: exactMatch DOID:0050850

[Term]
id: MONDO:0000490
name: glomerulosclerosis
def: "A hardening of the kidney glomerulus caused by scarring of the blood vessels." [NCIT:C120888]
synonym: "glomerular sclerosis" EXACT [NCIT:C120888]
xref: COHD:261071 {source="MONDO:equivalentTo"}
xref: DOID:0050851 {source="MONDO:equivalentTo"}
xref: NCIT:C120888 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:197661001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0178664 {source="NCIT:C120888", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019722 {source="MONDO:cjm", source="linkedlifedata"} ! glomerular disease
relationship: disease_causes_feature MONDO:0001106 ! kidney failure
property_value: exactMatch DOID:0050851
property_value: exactMatch http://identifiers.org/snomedct/197661001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178664
property_value: exactMatch NCIT:C120888

[Term]
id: MONDO:0000491
name: limb ischemia
def: "A ischemia that involves the limb." [MONDO:patterns/location]
synonym: "ischemic disease of limb" EXACT [MONDO:design_pattern]
synonym: "limb ischemia" EXACT [MONDO:patterns/location]
synonym: "limb ischemic disease" EXACT [MONDO:patterns/location]
xref: DOID:0050852 {source="MONDO:equivalentTo"}
xref: SCTID:21631000119105 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2945695 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005053 {source="DOID:0050852", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! ischemic disease
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch DOID:0050852
property_value: exactMatch http://identifiers.org/snomedct/21631000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2945695

[Term]
id: MONDO:0000492
name: chronic venous insufficiency
def: "Chronic form of venous insufficiency (disease)." [MONDO:patterns/chronic]
synonym: "chronic venous insufficiency (disease)" EXACT []
synonym: "venous insufficiency (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:0050853 {source="MONDO:equivalentTo"}
xref: EFO:0007940 {source="MONDO:equivalentTo"}
xref: UMLS:C1306557 {source="MONDO:equivalentTo"}
is_a: MONDO:0000945 {source="DOID:0050853", source="MONDO:Entailed", source="MONDO:Redundant"} ! venous insufficiency (disease)
property_value: exactMatch DOID:0050853
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306557

[Term]
id: MONDO:0000493
name: obsolete Muckle-Wells syndrome
is_obsolete: true
replaced_by: MONDO:0008633

[Term]
id: MONDO:0000494
name: renal fibrosis
def: "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." [MONDO:cjm, PMID:16408108]
xref: DOID:0050855 {source="MONDO:equivalentTo"}
xref: EFO:1001517 {source="MONDO:equivalentTo"}
xref: SCTID:197660000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0151650 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000490 {source="MONDO:cjm", source="linkedlifedata"} ! glomerulosclerosis
relationship: disease_has_feature MONDO:0000490 ! glomerulosclerosis
property_value: exactMatch DOID:0050855
property_value: exactMatch http://identifiers.org/snomedct/197660000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151650

[Term]
id: MONDO:0000495
name: oppositional defiant disorder (disease)
def: "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors." [NCIT:C92565]
synonym: "oppositional defiant disorder" EXACT [MONDO:ambiguous]
xref: COHD:441547 {source="MONDO:equivalentTo"}
xref: DOID:0050856 {source="MONDO:equivalentTo"}
xref: HP:0010865 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:313.81 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92565 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:18941000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.51"}
is_a: MONDO:0000592 {source="DOID:0050856"} ! specific developmental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029121
property_value: exactMatch DOID:0050856
property_value: exactMatch http://identifiers.org/mesh/D019958
property_value: exactMatch http://identifiers.org/snomedct/18941000
property_value: exactMatch NCIT:C92565

[Term]
id: MONDO:0000496
name: hemorrhagic cystitis
def: "Inflammation of the bladder resulting in bloody urine." [NCIT:C114666]
xref: DOID:0050859 {source="MONDO:equivalentTo"}
xref: NCIT:C114666 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:87696004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085692 {source="MONDO:equivalentTo", source="NCIT:C114666"}
is_a: MONDO:0006032 {source="DOID:0050859", source="MONDO:Redundant", source="NCIT:C114666", source="linkedlifedata"} ! cystitis
property_value: exactMatch DOID:0050859
property_value: exactMatch http://identifiers.org/snomedct/87696004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085692
property_value: exactMatch NCIT:C114666

[Term]
id: MONDO:0000497
name: pyometritis
def: "Inflammation of uterine musculature associated with pus in the uterine cavity." [https://medical-dictionary.thefreedictionary.com/pyometritis]
synonym: "inflammation of myometrium" EXACT []
synonym: "myometrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pyometra" EXACT [NCIT:C121207]
xref: DOID:0050862 {source="MONDO:equivalentTo"}
xref: MESH:D055112 {source="MONDO:equivalentTo"}
xref: NCIT:C121207 {source="MONDO:equivalentTo"}
xref: SCTID:88981003 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0034215 {source="NCIT:C121207", source="MONDO:equivalentTo"}
xref: UMLS:C0686163 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:0050862", source="MESH:D055112", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C121207/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: exactMatch DOID:0050862
property_value: exactMatch http://identifiers.org/mesh/D055112
property_value: exactMatch http://identifiers.org/snomedct/88981003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034215
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686163
property_value: exactMatch NCIT:C121207

[Term]
id: MONDO:0000498
name: arteritic anterior ischemic optic neuropathy
def: "An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)" [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy]
synonym: "arteritic aion" EXACT [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy]
xref: DOID:0050863 {source="MONDO:equivalentTo"}
xref: SCTID:733506009 {source="MONDO:equivalentTo"}
xref: UMLS:C2242711 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006649 {source="DOID:0050863", source="MONDOLEX:0000498"} ! anterior ischemic optic neuropathy
is_a: MONDO:0008538 {source="MONDO:cjm"} ! temporal arteritis
disjoint_from: MONDO:0000499 ! non-arteritic anterior ischemic optic neuropathy
property_value: exactMatch DOID:0050863
property_value: exactMatch http://identifiers.org/snomedct/733506009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242711

[Term]
id: MONDO:0000499
name: non-arteritic anterior ischemic optic neuropathy
synonym: "non-arteritic aion" EXACT [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy]
synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [DOID:0050864]
xref: DOID:0050864 {source="MONDO:equivalentTo"}
xref: UMLS:C1852242 {source="MONDO:equivalentTo"}
is_a: MONDO:0006649 {source="DOID:0050864", source="MONDOLEX:0000499"} ! anterior ischemic optic neuropathy
property_value: exactMatch DOID:0050864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852242

[Term]
id: MONDO:0000500
name: tongue squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." [NCIT:P378]
synonym: "scc of the tongue" EXACT [NCIT:C4648]
synonym: "scc of tongue" EXACT [NCIT:C4648]
synonym: "squamous cell carcinoma of the tongue" EXACT [NCIT:C4648]
synonym: "squamous cell carcinoma of tongue" EXACT [NCIT:C4648]
synonym: "tongue scc" EXACT [NCIT:C4648]
synonym: "tongue squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050865 {source="MONDO:equivalentTo"}
xref: EFO:1000055 {source="MONDO:equivalentTo"}
xref: NCIT:C4648 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:276952000 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0349566 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4648"}
is_a: MONDO:0004631 {source="DOID:0050865", source="MONDO:Redundant", source="NCIT:C4648/inferred"} ! tongue cancer
is_a: MONDO:0004958 {source="DOID:0050865", source="MONDO:Redundant", source="NCIT:C4648", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154605007
property_value: closeMatch http://identifiers.org/snomedct/189566008
property_value: closeMatch http://identifiers.org/snomedct/28899001
property_value: exactMatch DOID:0050865
property_value: exactMatch http://identifiers.org/snomedct/276952000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349566
property_value: exactMatch NCIT:C4648

[Term]
id: MONDO:0000501
name: obsolete Jensen syndrome
subset: gard_rare {source="GARD:0003046"}
synonym: "deafness-opticoacoustic nerve atrophy-dementia syndrome" RELATED [Orphanet:3213]
synonym: "Jensen syndrome" RELATED [OMIM:311150]
synonym: "nerve deafness optic nerve atrophy, and dementia" RELATED [GARD:0003046]
synonym: "opticoacoustic nerve atrophy with dementia" EXACT [DOID:0050867, MONDO:0010701, OMIM:311150]
synonym: "Opticoacustic nerve atrophy with dementia" RELATED [GARD:0003046]
synonym: "syndrome of opticoacoustic nerve atrophy with dementia" RELATED [GARD:0003046]
xref: DOID:0050867 {source="MONDO:obsoleteEquivalent"}
xref: GARD:0003046 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C537568 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: UMLS:C1839564 {source="OMIM:311150", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
property_value: closeMatch http://identifiers.org/omim/311150
property_value: closeMatch Orphanet:3213
property_value: exactMatch DOID:0050867
property_value: exactMatch http://identifiers.org/mesh/C537568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839564
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3046/jensen-syndrome xsd:anyURI {source="GARD:0003046"}
is_obsolete: true
replaced_by: MONDO:0010578

[Term]
id: MONDO:0000502
name: villous adenoma
def: "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." [NCIT:P378]
synonym: "villous adenoma" EXACT [NCIT:C7399]
xref: DOID:0050869 {source="MONDO:equivalentTo"}
xref: ICDO:8261/0 {source="NCIT:C7399"}
xref: MESH:D018253 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7399 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206674 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7399", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="DOID:0050869", source="MESH:D018253", source="NCIT:C7399"} ! adenoma
is_a: MONDO:0024276 {source="NCIT:C7399"} ! glandular cell neoplasm
property_value: exactMatch DOID:0050869
property_value: exactMatch http://identifiers.org/mesh/D018253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206674
property_value: exactMatch NCIT:C7399

[Term]
id: MONDO:0000503
name: lung adenocarcinoma in situ
def: "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion." [NCIT:C136486]
comment: Editor note: check why NCIT has two classes
synonym: "adenosquamous cell carcinoma in situ of lung" EXACT [NCIT:C8748]
synonym: "adenosquamous cell carcinoma in situ of the lung" EXACT [NCIT:C8748]
synonym: "bronchioalveolar carcinoma" RELATED [DOID:0050870]
synonym: "bronchioloalveolar carcinoma" EXACT [NCIT:C136486]
synonym: "in situ pulmonary adenocarcinoma" RELATED [DOID:0050870]
synonym: "lung adenocarcinoma In situ" EXACT [NCIT:C136486]
synonym: "lung adenosquamous cell carcinoma in situ" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous cell carcinoma of lung" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous cell carcinoma of the lung" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous cell lung carcinoma" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous lung cancer" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v6" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v6 and v7" EXACT [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v7" EXACT [NCIT:C8748]
xref: DOID:0050870 {source="MONDO:equivalentTo"}
xref: NCIT:C136486 {source="MONDO:equivalentTo"}
xref: NCIT:C8748 {source="MONDO:equivalentTo"}
xref: ONCOTREE:LAIS {source="MONDO:equivalentTo"}
xref: UMLS:C0854971 {source="MONDO:equivalentTo", source="NCIT:C8748"}
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C136486"} ! adenocarcinoma in situ
is_a: MONDO:0004660 {source="MONDO:Redundant", source="MONDOLEX:0000503", source="NCIT:C8748/inferred"} ! lung carcinoma in situ
is_a: MONDO:0005061 {source="MONDO:Redundant", source="NCIT:C136486"} ! lung adenocarcinoma
property_value: exactMatch DOID:0050870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854971
property_value: exactMatch NCIT:C136486
property_value: exactMatch NCIT:C8748

[Term]
id: MONDO:0000504
name: obsolete follicular lymphoma
is_obsolete: true
replaced_by: MONDO:0018906

[Term]
id: MONDO:0000505
name: obsolete small cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0000402

[Term]
id: MONDO:0000506
name: obsolete Caroli disease
is_obsolete: true
replaced_by: MONDO:0010913

[Term]
id: MONDO:0000507
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
def: "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." [Orphanet:52430]
subset: ordo_disease {source="Orphanet:52430"}
synonym: "IBMPFD" EXACT [DOID:0050881, Orphanet:52430]
synonym: "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" RELATED [GARD:0010899]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" EXACT [DC:0000545]
synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [DOID:0050881]
synonym: "inclusion body myopathy/Paget disease/frontotemporal dementia" EXACT [OMIMPS:167320]
synonym: "limb-girdle muscular dystrophy with Paget disease of bone" EXACT [Orphanet:52430]
synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430]
synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430]
xref: DC:0000545 {source="MONDO:equivalentTo"}
xref: DOID:0050881 {source="MONDO:equivalentTo"}
xref: GARD:0010899 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.8 {source="Orphanet:52430", source="ORDO:52430/attributed", source="ORDO:52430/ntbt"}
xref: OMIMPS:167320 {source="MONDO:equivalentTo", source="DC:0000545"}
xref: Orphanet:52430 {source="MONDO:equivalentTo"}
xref: SCTID:703544004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833662 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0050881", source="MONDOLEX:0000507"} ! syndromic disease
is_a: MONDO:0016112 {source="Orphanet:52430"} ! inclusion myopathy
is_a: MONDO:0017276 {source="DC:0000545"} ! frontotemporal dementia
is_a: MONDO:0019708 {source="Orphanet:52430"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0050881
property_value: exactMatch http://identifiers.org/snomedct/703544004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833662
property_value: exactMatch Orphanet:52430

[Term]
id: MONDO:0000508
name: syndromic intellectual disability
def: "A intellectual disability that is part of a larger syndrome." [MONDO:patterns/syndromic]
synonym: "syndrome associated with intellectual disability" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with intellectual disability" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic intellectual disability" EXACT [MONDO:patterns/syndromic]
xref: DOID:0050888 {source="MONDO:equivalentTo"}
xref: UMLS:CN225415 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001071 {source="DOID:0050888", source="MONDO:Entailed", source="MONDO:Redundant"} ! intellectual disability
is_a: MONDO:0002254 ! syndromic disease
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch DOID:0050888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225415

[Term]
id: MONDO:0000509
name: non-syndromic intellectual disability
def: "An intellectual disability that is not part of a larger syndrome." [MONDO:patterns/isolated]
synonym: "isolated intellectual disability" EXACT []
synonym: "isolated intellectual disability" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic intellectual disability" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: DOID:0050889 {source="MONDO:equivalentTo"}
is_a: MONDO:0001071 {source="DOID:0050889", source="MONDO:Entailed", source="MONDO:Redundant"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch DOID:0050889

[Term]
id: MONDO:0000510
name: synucleinopathy
def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" [DOID:0050890]
synonym: "alpha Synucleinopathies" RELATED [DOID:0050890]
synonym: "Synucleinopathies" RELATED [DOID:0050890]
xref: DOID:0050890 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="DOID:0050890", source="MONDO:Redundant"} ! neurodegenerative disease
property_value: exactMatch DOID:0050890

[Term]
id: MONDO:0000511
name: obsolete gallbladder adenoma
is_obsolete: true
replaced_by: MONDO:0006216

[Term]
id: MONDO:0000512
name: obsolete ameloblastoma
is_obsolete: true
replaced_by: MONDO:0017795

[Term]
id: MONDO:0000513
name: bone ameloblastoma
def: "A ameloblastoma that involves the bone tissue." [MONDO:patterns/location]
synonym: "ameloblastoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "bone tissue ameloblastoma" EXACT [MONDO:patterns/location]
xref: DOID:0050895 {source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:0050895", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone benign neoplasm
is_a: MONDO:0017795 ! ameloblastoma
property_value: exactMatch DOID:0050895

[Term]
id: MONDO:0000514
name: bone squamous cell carcinoma
def: "A squamous cell carcinoma that involves the bone tissue." [MONDO:patterns/location]
synonym: "bone tissue squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050896 {source="MONDO:equivalentTo"}
is_a: MONDO:0002415 {source="DOID:0050896", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone carcinoma
is_a: MONDO:0005096 ! squamous cell carcinoma
property_value: exactMatch DOID:0050896

[Term]
id: MONDO:0000515
name: bone chondrosarcoma
def: "A chondrosarcoma (disease) that involves the bone tissue." [MONDO:patterns/location]
synonym: "bone tissue chondrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "chondrosarcoma (disease) of bone tissue" EXACT []
xref: DOID:0050897 {source="MONDO:equivalentTo"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0008977 {source="DOID:0050897", source="MONDO:Redundant", source="MONDOLEX:0000515"} ! chondrosarcoma (disease)
property_value: exactMatch DOID:0050897

[Term]
id: MONDO:0000516
name: phalanx chondroma
def: "A chondroma that involves the phalanx." [MONDO:patterns/location]
synonym: "phalanx chondroma" EXACT [MONDO:patterns/location]
xref: DOID:0050898 {source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:0050898"} ! bone benign neoplasm
is_a: MONDO:0002360 {source="DOID:0050898", source="MONDO:Entailed", source="MONDO:Redundant"} ! chondroma
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch DOID:0050898

[Term]
id: MONDO:0000517
name: brain stem medulloblastoma
def: "A medulloblastoma that involves the brainstem." [MONDO:patterns/location]
synonym: "brainstem medulloblastoma" EXACT [MONDO:patterns/location]
synonym: "medulloblastoma of brainstem" EXACT [MONDO:design_pattern]
xref: DOID:0050899 {source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="DOID:0050899", source="MONDO:Entailed", source="MONDO:Redundant"} ! medulloblastoma
is_a: MONDO:0021228 ! brainstem neoplasm
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:0050899"} ! brainstem cancer
property_value: exactMatch DOID:0050899

[Term]
id: MONDO:0000518
name: sacrum chordoma
def: "A chordoma (disease) that involves the fused sacrum." [MONDO:patterns/location]
synonym: "chordoma (disease) of fused sacrum" EXACT []
synonym: "fused sacrum chordoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:0050900 {source="MONDO:equivalentTo"}
xref: SCTID:447730004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.55"}
xref: UMLS:C3164279 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0002894 {source="DOID:0050900"} ! spinal chordoma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch DOID:0050900
property_value: exactMatch http://identifiers.org/snomedct/447730004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164279

[Term]
id: MONDO:0000519
name: corpus callosum oligodendroglioma
def: "A oligodendroglioma that involves the corpus callosum." [MONDO:patterns/location]
synonym: "corpus callosum oligodendroglioma" EXACT [MONDO:patterns/location]
synonym: "oligodendroglioma of corpus callosum" EXACT [MONDO:design_pattern]
xref: DOID:0050901 {source="MONDO:equivalentTo"}
is_a: MONDO:0002544 {source="DOID:0050901", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain oligodendroglioma
is_a: MONDO:0002731 ! cerebral hemisphere cancer
property_value: exactMatch DOID:0050901

[Term]
id: MONDO:0000520
name: parietal lobe ependymal tumor
def: "An ependymal tumor affecting the parietal lobe of the brain." [NCIT:C131575]
synonym: "ependymal tumor of parietal lobe" EXACT [MONDO:design_pattern]
synonym: "parietal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131575]
synonym: "parietal lobe ependymoma" RELATED [DOID:0050903]
xref: DOID:0050903 {source="MONDO:equivalentTo"}
xref: NCIT:C131575 {source="MONDO:equivalentTo"}
xref: UMLS:C4330935 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001952 ! parietal lobe cancer
is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C131575"} ! ependymal tumor of brain
property_value: exactMatch DOID:0050903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330935
property_value: exactMatch NCIT:C131575

[Term]
id: MONDO:0000521
name: salivary gland carcinoma
def: "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." [NCIT:C9272]
synonym: "carcinoma of saliva-secreting gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of salivary gland" EXACT [NCIT:C9272]
synonym: "carcinoma of the salivary gland" EXACT [NCIT:C9272]
synonym: "saliva-secreting gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary carcinoma" RELATED [ONCOTREE:SACA]
synonym: "salivary gland cancer" EXACT [NCIT:C9272]
synonym: "salivary gland carcinoma" EXACT [NCIT:C9272]
xref: DOID:0050904 {source="MONDO:equivalentTo"}
xref: NCIT:C9272 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SACA {source="MONDO:equivalentTo"}
xref: UMLS:C0948750 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9272"}
is_a: MONDO:0004669 {source="DOID:0050904", source="MONDO:Redundant", source="MONDOLEX:0000521", source="NCIT:C9272"} ! salivary gland cancer
is_a: MONDO:0044925 ! oral cavity carcinoma
property_value: exactMatch DOID:0050904
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948750
property_value: exactMatch NCIT:C9272

[Term]
id: MONDO:0000522
name: obsolete inflammatory myofibroblastic tumor
is_obsolete: true
replaced_by: MONDO:0015798

[Term]
id: MONDO:0000523
name: obsolete conjunctival nevus
is_obsolete: true
replaced_by: MONDO:0006172

[Term]
id: MONDO:0000524
name: mixed extragonadal germ cell cancer
def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle." [DOID:0050907, http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, http://www.cancer.gov/dictionary?CdrID=444993]
xref: DOID:0050907 {source="MONDO:equivalentTo"}
is_a: MONDO:0003113 ! extragonadal germ cell cancer
is_a: MONDO:0015864 {source="DOID:0050907", source="MONDO:Redundant"} ! mixed germ cell tumor
intersection_of: MONDO:0003113 ! extragonadal germ cell cancer
intersection_of: MONDO:0015864 ! mixed germ cell tumor
property_value: exactMatch DOID:0050907

[Term]
id: MONDO:0000525
name: cecum villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5520]
synonym: "caecum adenoma" RELATED [DOID:0050910]
synonym: "caecum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "cecal villous adenoma" EXACT [NCIT:C5520]
synonym: "cecum adenoma" BROAD [DOID:0050910]
synonym: "cecum villous adenoma" EXACT [NCIT:C5520]
synonym: "villous adenoma of cecum" EXACT [NCIT:C5520]
synonym: "villous adenoma of the cecum" EXACT [NCIT:C5520]
xref: DOID:0050910 {source="MONDO:equivalentTo"}
xref: EFO:1000155 {source="MONDO:equivalentTo"}
xref: NCIT:C5520 {source="DesignPattern", source="EFO:1000155", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332869 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5520"}
is_a: MONDO:0005694 {source="DOID:0050910", source="MONDO:Redundant", source="NCIT:C5520"} ! cecal neoplasm
is_a: MONDO:0021271 {source="MONDO:Redundant", source="NCIT:C5520"} ! villous adenoma of colon
property_value: exactMatch DOID:0050910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332869
property_value: exactMatch NCIT:C5520

[Term]
id: MONDO:0000526
name: obsolete appendix carcinoid tumor
def: "A carcinoid tumor (disease) that involves the vermiform appendix." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0006091

[Term]
id: MONDO:0000527
name: colon adenoma
def: "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378]
synonym: "adenoma of colon" EXACT [NCIT:C3864]
synonym: "adenoma of the colon" EXACT [NCIT:C3864]
synonym: "colon adenoma" EXACT [MONDO:patterns/location, NCIT:C3864]
synonym: "colonic adenoma" EXACT [NCIT:C3864]
xref: DOID:0050912 {source="MONDO:equivalentTo"}
xref: NCIT:C3864 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0850572 {source="MONDO:equivalentTo", source="NCIT:C3864"}
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C3864", source="OWLReasoner:2017"} ! colorectal adenoma
is_a: MONDO:0024479 ! epithelial tumor of colon
relationship: excluded_subClassOf MONDO:0002278 {source="DOID:0050912"} ! benign colon neoplasm
property_value: exactMatch DOID:0050912
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0850572
property_value: exactMatch NCIT:C3864

[Term]
id: MONDO:0000530
name: rectum adenoma
def: "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378]
synonym: "adenoma of rectum" EXACT [NCIT:C5546]
synonym: "adenoma of the rectum" EXACT [NCIT:C5546]
synonym: "rectal adenoma" EXACT [NCIT:C5546]
synonym: "rectum adenoma" EXACT [MONDO:patterns/location]
xref: DOID:0050915 {source="MONDO:equivalentTo"}
xref: NCIT:C5546 {source="MONDO:equivalentTo"}
xref: SCTID:399730005 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
xref: UMLS:C1302652 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5546"}
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C5546", source="linkedlifedata"} ! colorectal adenoma
is_a: MONDO:0024476 ! epithelial neoplasm of rectum
property_value: exactMatch DOID:0050915
property_value: exactMatch http://identifiers.org/snomedct/399730005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302652
property_value: exactMatch NCIT:C5546

[Term]
id: MONDO:0000531
name: bronchus mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the bronchus." [MONDO:patterns/location]
synonym: "bronchus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050916 {source="MONDO:equivalentTo"}
is_a: MONDO:0002806 {source="DOID:0050916", source="MONDO:Entailed", source="MONDO:Redundant"} ! bronchogenic carcinoma
is_a: MONDO:0005616 ! pulmonary mucoepidermoid carcinoma
property_value: exactMatch DOID:0050916

[Term]
id: MONDO:0000532
name: lung combined type small cell adenocarcinoma
def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin." [DOID:0050917, http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, http://www.cancer.gov/dictionary?CdrID=45327, http://www.cancer.gov/dictionary?CdrID=46216]
xref: DOID:0050917 {source="MONDO:equivalentTo"}
is_a: MONDO:0003438 {source="DOID:0050917", source="MONDO:Entailed", source="MONDO:Redundant"} ! combined small cell lung carcinoma
is_a: MONDO:0005061 ! lung adenocarcinoma
intersection_of: MONDO:0003438 ! combined small cell lung carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
property_value: exactMatch DOID:0050917

[Term]
id: MONDO:0000533
name: obsolete vaginal carcinoma
is_obsolete: true
replaced_by: MONDO:0015867

[Term]
id: MONDO:0000534
name: trachea mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the trachea." [MONDO:patterns/location]
synonym: "trachea mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050919 {source="MONDO:equivalentTo"}
xref: SCTID:707379000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C3873401 {source="MONDO:equivalentTo"}
is_a: MONDO:0003036 {source="DOID:0050919", source="MONDO:Redundant", source="MONDOLEX:0000534"} ! mucoepidermoid carcinoma
is_a: MONDO:0003184 {source="DOID:0050919", source="MONDO:Entailed", source="MONDO:Redundant"} ! trachea carcinoma
property_value: exactMatch DOID:0050919
property_value: exactMatch http://identifiers.org/snomedct/707379000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3873401

[Term]
id: MONDO:0000535
name: tonsil squamous cell carcinoma
def: "A squamous cell carcinoma that involves the tonsil." [MONDO:patterns/location]
synonym: "tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050920 {source="MONDO:equivalentTo"}
is_a: MONDO:0021337 ! tonsil carcinoma
is_a: MONDO:0044704 ! oropharynx squamous cell carcinoma
property_value: exactMatch DOID:0050920

[Term]
id: MONDO:0000536
name: pharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the pharynx." [NCIT:C102872]
synonym: "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal squam. cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal squamous cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal throat squamous cell cancer" EXACT [NCIT:C102872]
synonym: "pharynx squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050921 {source="MONDO:equivalentTo"}
xref: EFO:1001965 {source="MONDO:equivalentTo"}
xref: NCIT:C102872 {source="MONDO:equivalentTo"}
xref: SCTID:408649007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C1319317 {source="MONDO:equivalentTo"}
is_a: MONDO:0005517 {source="DOID:0050921", source="EFO:1001965", source="MONDO:Redundant", source="NCIT:C102872/inferred"} ! pharynx cancer
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C102872", source="linkedlifedata"} ! head and neck squamous cell carcinoma
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C102872"} ! carcinoma of pharynx
property_value: exactMatch DOID:0050921
property_value: exactMatch http://identifiers.org/snomedct/408649007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319317
property_value: exactMatch NCIT:C102872

[Term]
id: MONDO:0000537
name: obsolete gastrointestinal carcinoma (disease)
is_obsolete: true
replaced_by: MONDO:0006181

[Term]
id: MONDO:0000538
name: obsolete spindle epithelial tumor with thymus-like differentiation tumor
is_obsolete: true
replaced_by: MONDO:0006466

[Term]
id: MONDO:0000539
name: striated muscle rhabdoid tumor
def: "A rhabdoid tumor that involves the striated muscle tissue." [MONDO:patterns/location]
synonym: "striated muscle tissue rhabdoid tumor" EXACT [MONDO:patterns/location]
xref: DOID:0050924 {source="MONDO:equivalentTo"}
is_a: MONDO:0002728 ! rhabdoid tumor
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0005864 {source="DOID:0050924", source="MONDO:Entailed", source="MONDO:Redundant"} ! muscle cancer
property_value: exactMatch DOID:0050924

[Term]
id: MONDO:0000540
name: small intestinal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4638]
synonym: "carcinoid tumor of small bowel" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of small intestine" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of the small bowel" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of the small intestine" EXACT [NCIT:C4638]
synonym: "grade 1 neuroendocrine neoplasm of small intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "small bowel carcinoid tumor" EXACT [NCIT:C4638]
synonym: "small intestinal carcinoid tumor" EXACT [NCIT:C4638]
synonym: "small intestinal NET G1" EXACT [NCIT:C4638]
synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638]
synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925]
synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638]
synonym: "small intestine carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "small intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "small intestine neuroendocrine neoplasm G1" EXACT []
synonym: "small intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: COHD:198100 {source="MONDO:equivalentTo"}
xref: DOID:0050925 {source="MONDO:equivalentTo"}
xref: NCIT:C4638 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:276818002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349536 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4638"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C4638"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0021533 {source="MONDO:Redundant", source="MONDOLEX:0000540", source="NCIT:C4638", source="linkedlifedata"} ! intestinal neuroendocrine tumor G1
property_value: exactMatch DOID:0050925
property_value: exactMatch http://identifiers.org/snomedct/276818002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349536
property_value: exactMatch NCIT:C4638

[Term]
id: MONDO:0000541
name: jejunal adenocarcinoma (disease)
def: "A adenocarcinoma that involves the jejunum." [MONDO:patterns/location]
synonym: "jejunal adenocarcinoma" EXACT [MONDO:ambiguous]
synonym: "jejunum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050926 {source="MONDO:equivalentTo"}
xref: HP:0030411 {source="MONDO:otherHierarchy", source="ontobio"}
xref: UMLS:C4072935 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003198 ! small intestine adenocarcinoma
is_a: MONDO:0006815 ! jejunal cancer
property_value: exactMatch DOID:0050926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4072935

[Term]
id: MONDO:0000542
name: obsolete duodenum adenoma
is_obsolete: true
replaced_by: MONDO:0006187

[Term]
id: MONDO:0000543
name: ovarian melanoma
def: "A melanoma (disease) that involves the ovary." [MONDO:patterns/location]
synonym: "melanoma (disease) of ovary" RELATED []
synonym: "metastatic melanoma of ovary" EXACT []
synonym: "ovary melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "ovary metastatic melanoma" EXACT [MONDO:patterns/location]
xref: DOID:0050928 {source="MONDO:equivalentTo"}
is_a: MONDO:0002481 ! ovarian neuroendocrine neoplasm
is_a: MONDO:0005191 ! metastatic melanoma
property_value: exactMatch DOID:0050928

[Term]
id: MONDO:0000544
name: mucosal melanoma
def: "A melanoma that arises from a mucosal site." [NCIT:P378]
synonym: "mucosal melanoma" EXACT [NCIT:C114828]
xref: DOID:0050929 {source="MONDO:equivalentTo"}
xref: NCIT:C114828 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3898222 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006320 {source="NCIT:C114828"} ! non-cutaneous melanoma
property_value: exactMatch DOID:0050929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898222
property_value: exactMatch NCIT:C114828

[Term]
id: MONDO:0000545
name: sublingual gland adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the sublingual gland." [MONDO:patterns/location]
synonym: "sublingual gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050930 {source="MONDO:equivalentTo"}
is_a: MONDO:0021070 ! sublingual gland carcinoma
is_a: MONDO:0045063 ! major salivary gland adenoid cystic carcinoma
property_value: exactMatch DOID:0050930

[Term]
id: MONDO:0000546
name: obsolete parotid gland adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006356

[Term]
id: MONDO:0000547
name: obsolete ovarian serous carcinoma
is_obsolete: true
replaced_by: MONDO:0005211

[Term]
id: MONDO:0000548
name: ovarian clear cell cancer
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." [NCIT:C40077]
synonym: "clear-cell ovarian carcinoma" EXACT [DOID:0050934]
synonym: "malignant ovarian clear cell neoplasm" EXACT [NCIT:C40077]
synonym: "malignant ovarian clear cell tumor" EXACT [NCIT:C40077]
synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934]
xref: DOID:0050934 {source="MONDO:equivalentTo", source="MONDO:generalized-by-cjm"}
xref: NCIT:C40077 {source="MONDO:equivalentTo"}
xref: UMLS:C1518230 {source="MONDO:equivalentTo", source="NCIT:C40077"}
is_a: MONDO:0018364 {source="DOID:0050934/inferred", source="NCIT:C40077"} ! malignant epithelial tumor of ovary
is_a: MONDO:0021144 {source="NCIT:C40077"} ! ovarian clear cell tumor
property_value: exactMatch DOID:0050934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518230
property_value: exactMatch NCIT:C40077

[Term]
id: MONDO:0000549
name: cervical neuroblastoma
def: "A relatively uncommon neuroblastoma that is found in the neck." [PMID:23120455]
synonym: "neck neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "neuroblastoma of neck" EXACT [MONDO:design_pattern]
xref: DOID:0050935 {source="MONDO:equivalentTo"}
is_a: MONDO:0002749 {source="DOID:0050935"} ! extracranial neuroblastoma
is_a: MONDO:0021351 ! neoplasm of neck
property_value: exactMatch DOID:0050935

[Term]
id: MONDO:0000550
name: extra-adrenal sympathetic paraganglioma
def: "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." [NCIT:C48576]
comment: Editor note: DO classifies as cancer but we treat as neutral
synonym: "Extra-adrenal chromaffin neoplasm" EXACT [NCIT:C48576]
synonym: "Extra-adrenal chromaffin neoplasm" RELATED [EFO:0000489]
synonym: "Extra-adrenal Chromaffinoma" EXACT [NCIT:C48576]
synonym: "Extra-adrenal Chromaffinoma" RELATED [EFO:0000489]
synonym: "Extra-adrenal pheochromocytoma" EXACT [NCIT:C48576]
synonym: "Extra-adrenal pheochromocytoma" RELATED [EFO:0000489]
synonym: "Extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576]
synonym: "Extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576]
synonym: "extraadrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576]
xref: DOID:0050936 {source="MONDO:equivalentTo"}
xref: EFO:0000489 {source="MONDO:equivalentTo"}
xref: NCIT:C48576 {source="MONDO:equivalentTo"}
xref: UMLS:C1257877 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C48576"}
is_a: MONDO:0021072 {source="MONDOLEX:0000550", source="NCIT:C48576"} ! sympathetic paraganglioma
property_value: exactMatch DOID:0050936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257877
property_value: exactMatch NCIT:C48576

[Term]
id: MONDO:0000551
name: retroperitoneal neuroblastoma
def: "A neuroblastoma that involves the retroperitoneal space." [MONDO:patterns/location]
synonym: "neuroblastoma of retroperitoneal space" EXACT []
synonym: "retroperitoneal space neuroblastoma" EXACT [MONDO:patterns/location]
xref: DOID:0050937 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 ! neuroblastoma
is_a: MONDO:0024645 ! retroperitoneal neoplasm
property_value: exactMatch DOID:0050937

[Term]
id: MONDO:0000552
name: breast lobular carcinoma
def: "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." [NCIT:C3771]
synonym: "carcinoma of lobule of mammary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "lobular adenocarcinoma" EXACT [NCIT:C3771]
synonym: "lobular breast carcinoma" EXACT [NCIT:C3771]
synonym: "lobular carcinoma" EXACT [NCIT:C3771]
synonym: "lobular carcinoma of breast" EXACT [NCIT:C3771]
synonym: "lobular carcinoma of the breast" EXACT [NCIT:C3771]
synonym: "lobule of mammary gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050938 {source="MONDO:equivalentTo"}
xref: EFO:0008509 {source="MONDO:equivalentTo"}
xref: ICDO:8520/3 {source="NCIT:C3771"}
xref: NCIT:C3771 {source="MONDO:equivalentTo"}
xref: SCTID:278054005 {source="MONDO:equivalentTo"}
is_a: MONDO:0004988 {source="NCIT:C3771"} ! breast adenocarcinoma
property_value: exactMatch DOID:0050938
property_value: exactMatch http://identifiers.org/snomedct/278054005
property_value: exactMatch NCIT:C3771

[Term]
id: MONDO:0000553
name: uterine corpus endometrial carcinoma
def: "A endometrial carcinoma (disease) that involves the body of uterus." [MONDO:patterns/location]
synonym: "body of uterus endometrial carcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "endometrial carcinoma (disease) of body of uterus" EXACT []
xref: DOID:0050939 {source="MONDO:equivalentTo"}
is_a: MONDO:0002447 ! endometrial carcinoma (disease)
is_a: MONDO:0006003 {source="DOID:0050939", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
property_value: exactMatch DOID:0050939

[Term]
id: MONDO:0000554
name: endocervical adenocarcinoma
def: "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." [NCIT:C127907]
synonym: "endocervical adenocarcinoma, usual type" EXACT [NCIT:C127907]
synonym: "endocervix adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050940 {source="MONDO:equivalentTo"}
xref: NCIT:C127907 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ECAD {source="MONDO:equivalentTo"}
xref: SCTID:123842006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"}
xref: UMLS:C1263762 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
xref: UMLS:C4289591 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0004259 {source="DOID:0050940", source="MONDO:Redundant", source="MONDOLEX:0000554", source="NCIT:C127907"} ! endocervical carcinoma
is_a: MONDO:0005153 {source="MONDOLEX:0000554", source="NCIT:C127907", source="ONCOTREE:ECAD", source="linkedlifedata"} ! cervical adenocarcinoma
property_value: exactMatch DOID:0050940
property_value: exactMatch http://identifiers.org/snomedct/123842006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289591
property_value: exactMatch NCIT:C127907

[Term]
id: MONDO:0000555
name: obsolete autosomal recessive hypophosphatemic rickets
is_obsolete: true
replaced_by: MONDO:0017324

[Term]
id: MONDO:0000556
name: obsolete autosomal recessive cerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0015244

[Term]
id: MONDO:0000557
name: hereditary ataxia
def: "Cerebellar ataxia that is transmitted from parent to child." []
subset: gard_rare {source="GARD:0006614"}
subset: ordo_group_of_disorders {source="Orphanet:183518"}
synonym: "hereditary cerebellar ataxia" EXACT [NCIT:C140268]
synonym: "rare hereditary ataxia" EXACT [MONDO:0015956, Orphanet:183518]
synonym: "SCA" RELATED [GARD:0010748]
xref: DOID:0050951 {source="MONDO:equivalentTo"}
xref: GARD:0006614 {source="MONDO:equivalentTo"}
xref: GARD:0010748 {source="MONDO:equivalentTo"}
xref: ICD10:G11 {source="MONDO:equivalentTo"}
xref: MESH:C531684 {source="MONDO:equivalentTo"}
xref: NCIT:C140268 {source="MONDO:equivalentTo"}
xref: Orphanet:183518 {source="MONDO:equivalentTo"}
xref: SCTID:763597000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000437 {source="Orphanet:183518"} ! cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004138
property_value: exactMatch DOID:0050951
property_value: exactMatch http://identifiers.org/mesh/C531684
property_value: exactMatch http://identifiers.org/snomedct/763597000
property_value: exactMatch NCIT:C140268
property_value: exactMatch Orphanet:183518
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia xsd:anyURI {source="GARD:0006614"}

[Term]
id: MONDO:0000558
name: obsolete spastic ataxia
is_obsolete: true
replaced_by: MONDO:0017845

[Term]
id: MONDO:0000560
name: obsolete spinocerebellar ataxia type 4
is_obsolete: true
replaced_by: MONDO:0010847

[Term]
id: MONDO:0000561
name: spinocerebellar ataxia type 16
def: "An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP." [NCIT:C150250]
comment: Editor notes: Consider merging into 15/16
synonym: "SCAR16" EXACT [NCIT:C150250]
xref: DOID:0050966 {source="MONDO:equivalentTo"}
xref: NCIT:C150250 {source="MONDO:equivalentTo"}
xref: Orphanet:98770 {source="MONDO:equivalentTo"}
xref: UMLS:CN229296 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0050966"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch DOID:0050966
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229296
property_value: exactMatch NCIT:C150250
property_value: exactMatch Orphanet:98770

[Term]
id: MONDO:0000562
name: obsolete hypomyelinating leukoencephalopathy
is_obsolete: true

[Term]
id: MONDO:0000563
name: GRID2-related autosomal dominant spinocerebellar ataxia
comment: the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging.
synonym: "GRID2-related spinocerebellar ataxia" RELATED [DOID:0050988]
xref: DOID:0050988 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0050988"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch DOID:0050988

[Term]
id: MONDO:0000564
name: obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome
is_obsolete: true
replaced_by: MONDO:0009133

[Term]
id: MONDO:0000565
name: infective endocarditis
def: "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis .IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." [https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis]
subset: gard_rare {source="GARD:0006337"}
synonym: "endocarditis infective" EXACT [NCIT:C78265]
synonym: "endocarditis, infective" RELATED [GARD:0006337]
xref: DOID:0060000 {source="MONDO:equivalentTo"}
xref: GARD:0006337 {source="MONDO:equivalentTo"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C78265 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:233850007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005025 {source="DOID:0060000", source="MONDO:Redundant", source="MONDOLEX:0000565", source="NCIT:C78265", source="linkedlifedata"} ! endocarditis (disease)
is_a: MONDO:0005550 ! infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014118
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1541923
property_value: exactMatch DOID:0060000
property_value: exactMatch http://identifiers.org/snomedct/233850007
property_value: exactMatch NCIT:C78265
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis xsd:anyURI {source="GARD:0006337"}

[Term]
id: MONDO:0000566
name: obsolete substance withdrawal disorder
is_obsolete: true
replaced_by: MONDO:0005567

[Term]
id: MONDO:0000567
name: obsolete C1 inhibitor deficiency
is_obsolete: true
replaced_by: MONDO:0007361

[Term]
id: MONDO:0000568
name: autoimmune disease of central nervous system
def: "A hypersensitivity reaction type II disease that involves the central nervous system." [MONDO:patterns/location]
synonym: "central nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002602 {source="DOID:0060004", source="MONDO:Redundant", source="MONDOLEX:0000568"} ! central nervous system disease
is_a: MONDO:0002977 {source="DOID:0060004", source="MONDO:Redundant", source="MONDOLEX:0000568"} ! autoimmune disease of the nervous system
property_value: exactMatch DOID:0060004

[Term]
id: MONDO:0000569
name: autoimmune disease of endocrine system
def: "A hypersensitivity reaction type II disease that involves the endocrine system." [MONDO:patterns/location]
synonym: "endocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060005 {source="MONDO:equivalentTo"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:237822008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342552 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="DOID:0060005", source="MONDO:Redundant", source="linkedlifedata"} ! endocrine system disease
is_a: MONDO:0007179 {source="DOID:0060005", source="MONDO:Redundant", source="linkedlifedata"} ! autoimmune disease
property_value: exactMatch DOID:0060005
property_value: exactMatch http://identifiers.org/snomedct/237822008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342552

[Term]
id: MONDO:0000570
name: obsolete severe combined immunodeficiency due to artemis deficiency
is_obsolete: true
replaced_by: MONDO:0011225

[Term]
id: MONDO:0000571
name: obsolete CD3zeta deficiency
is_obsolete: true
replaced_by: MONDO:0012426

[Term]
id: MONDO:0000572
name: recombinase activating gene 1 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060011, http://bioinf.uta.fi/RAG1base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
xref: DOID:0060011 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="DOID:0060011"} ! severe combined immunodeficiency (disease)
property_value: exactMatch DOID:0060011

[Term]
id: MONDO:0000573
name: recombinase activating gene 2 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060012, http://bioinf.uta.fi/RAG2base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
xref: DOID:0060012 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="DOID:0060012"} ! severe combined immunodeficiency (disease)
property_value: exactMatch DOID:0060012

[Term]
id: MONDO:0000574
name: obsolete CD45 deficiency
is_obsolete: true
replaced_by: MONDO:0015702

[Term]
id: MONDO:0000576
name: obsolete CD3delta deficiency
is_obsolete: true
replaced_by: MONDO:0014280

[Term]
id: MONDO:0000577
name: congenital anemia
def: "Anemia, the cause of which is present at birth." [NCIT:C35228]
synonym: "congenital anemia" EXACT [NCIT:C35228]
synonym: "congenital anemia (disease)" EXACT [MONDO:patterns/congenital]
xref: NCIT:C35228 {source="MONDO:equivalentTo"}
xref: SCTID:63565007 {source="MONDO:equivalentTo"}
xref: UMLS:C0158995 {source="MONDO:equivalentTo"}
is_a: MONDO:0002280 ! anemia (disease)
is_a: MONDO:0009332 {source="NCIT:C35228"} ! congenital hematological disorder
intersection_of: MONDO:0002280 ! anemia (disease)
intersection_of: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch http://identifiers.org/snomedct/63565007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158995
property_value: exactMatch NCIT:C35228

[Term]
id: MONDO:0000578
name: obsolete CD3gamma deficiency
is_obsolete: true
replaced_by: MONDO:0014276

[Term]
id: MONDO:0000579
name: obsolete coronin-1A deficiency
is_obsolete: true
replaced_by: MONDO:0014168

[Term]
id: MONDO:0000580
name: obsolete CD40 ligand deficiency
is_obsolete: true
replaced_by: MONDO:0010626

[Term]
id: MONDO:0000581
name: lambda 5 deficiency
def: "A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage." [DOID:0060024, http://bioinf.uta.fi/IGLL1base/, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, http://www.ncbi.nlm.nih.gov/gene/3543?]
comment: Consider merge with Agammaglobulinemia 2
xref: DOID:0060024 {source="MONDO:equivalentTo"}
is_a: MONDO:0002211 {source="DOID:0060024"} ! B cell deficiency
property_value: exactMatch DOID:0060024

[Term]
id: MONDO:0000582
name: obsolete immunoglobulin alpha deficiency
is_obsolete: true
replaced_by: MONDO:0000048

[Term]
id: MONDO:0000583
name: immunoglobulin beta deficiency
comment: Consider merge with AGM6
synonym: "IgB deficiency" RELATED [DOID:0060026]
xref: DOID:0060026 {source="MONDO:equivalentTo"}
xref: MESH:C567200 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C3502055 {source="MONDO:equivalentTo"}
is_a: MONDO:0002211 {source="DOID:0060026"} ! B cell deficiency
property_value: exactMatch DOID:0060026
property_value: exactMatch http://identifiers.org/mesh/C567200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502055

[Term]
id: MONDO:0000584
name: B cell linker protein deficiency
def: "A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." [DOID:0060027, http://bioinf.uta.fi/BLNKbase/, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, http://www.ncbi.nlm.nih.gov/gene/2]
synonym: "B-cell linker protein deficiency" EXACT [DOID:0060027]
synonym: "BLNK deficiency" EXACT [DOID:0060027]
xref: DOID:0060027 {source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="DOID:0060027"} ! agammaglobulinemia
property_value: exactMatch DOID:0060027

[Term]
id: MONDO:0000585
name: obsolete Good syndrome
is_obsolete: true
replaced_by: MONDO:0015696

[Term]
id: MONDO:0000586
name: autoimmune disease of exocrine system
def: "A hypersensitivity reaction type II disease that involves the exocrine system." [MONDO:patterns/location]
synonym: "exocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "exocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060029 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060029", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
property_value: exactMatch DOID:0060029

[Term]
id: MONDO:0000587
name: autoimmune disease of ear, nose and throat
def: "An autoimmune form of otorhinolaryngologic disease." [MONDO:patterns/autoimmune]
comment: Editor note: ENT typically excludes eye, but the DOID class includes this
synonym: "autoimmune disease of eyes, ear, nose and throat" RELATED [DOID:0060030]
synonym: "autoimmune otorhinolaryngologic disease" EXACT [MONDO:cjm]
xref: DOID:0060030 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060030", source="MONDO:Redundant"} ! autoimmune disease
is_a: MONDO:0024623 ! otorhinolaryngologic disease
property_value: exactMatch DOID:0060030

[Term]
id: MONDO:0000588
name: autoimmune disease of gastrointestinal tract
def: "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." [MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "autoimmune disease of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern]
xref: DOID:0060031 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0007179 {source="DOID:0060031", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
property_value: exactMatch DOID:0060031

[Term]
id: MONDO:0000589
name: autoimmune disease of musculoskeletal system
def: "A hypersensitivity reaction type II disease that involves the musculoskeletal system." [MONDO:patterns/location]
synonym: "musculoskeletal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "musculoskeletal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060032 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease
is_a: MONDO:0007179 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
property_value: exactMatch DOID:0060032

[Term]
id: MONDO:0000590
name: autoimmune disease of peripheral nervous system
def: "A hypersensitivity reaction type II disease that involves the peripheral nervous system." [MONDO:patterns/location]
synonym: "peripheral nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060033 {source="MONDO:equivalentTo"}
is_a: MONDO:0002977 {source="DOID:0060033", source="MONDO:Redundant", source="MONDOLEX:0000590"} ! autoimmune disease of the nervous system
is_a: MONDO:0003620 {source="DOID:0060033", source="MONDO:Redundant", source="MONDOLEX:0000590"} ! peripheral nervous system disease
property_value: exactMatch DOID:0060033

[Term]
id: MONDO:0000591
name: intrinsic cardiomyopathy
def: "A cardiomyopathy that is due to abnormalities in heart muscle cells." [https://en.wikipedia.org/wiki/Cardiomyopathy, https://www.emedicinehealth.com/cardiomyopathy/article_em.htm]
synonym: "primary cardiomyopathy" EXACT [https://en.wikipedia.org/wiki/Cardiomyopathy]
xref: DOID:0060036 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="DOID:0060036", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy
disjoint_from: MONDO:0002824 ! extrinsic cardiomyopathy
property_value: exactMatch DOID:0060036

[Term]
id: MONDO:0000592
name: specific developmental disorder
def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [DOID:0060038, http://en.wikipedia.org/wiki/Specific_developmental_disorder]
synonym: "specific delays in development" RELATED []
synonym: "specific developmental disorder" EXACT []
xref: DOID:0060038 {source="MONDO:equivalentTo"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:10720004 {source="MONDO:kboom-pr-1.00/0.91/25.58", source="MONDO:equivalentTo"}
is_a: MONDO:0005503 {source="DOID:0060038"} ! developmental disorder of mental health
disjoint_from: MONDO:0000594 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/Specific_developmental_disorder"} ! pervasive developmental disorder
property_value: exactMatch DOID:0060038
property_value: exactMatch http://identifiers.org/snomedct/10720004

[Term]
id: MONDO:0000593
name: obsolete autoimmune disease of skin and connective tissue
is_obsolete: true
replaced_by: MONDO:0017841

[Term]
id: MONDO:0000594
name: pervasive developmental disorder
def: "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." [NCIT:C97179]
synonym: "pervasive child development disorders" RELATED [MESH:D002659]
synonym: "pervasive development disorder" EXACT [DOID:0060040]
synonym: "pervasive development disorders" RELATED [MESH:D002659]
xref: DOID:0060040 {source="MONDO:equivalentTo"}
xref: ICD9:299.80 {source="DOID:0060040"}
xref: MESH:D002659 {source="MONDO:equivalentTo"}
xref: NCIT:C97179 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0005503 {source="DOID:0060040"} ! developmental disorder of mental health
is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154451
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524528
property_value: exactMatch DOID:0060040
property_value: exactMatch http://identifiers.org/mesh/D002659
property_value: exactMatch NCIT:C97179

[Term]
id: MONDO:0000595
name: sexual and gender identity disorders
def: "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." [NCIT:C92202]
synonym: "sexual disorder" EXACT [DOID:0060043]
xref: DOID:0060043 {source="MONDO:equivalentTo"}
xref: NCIT:C92202 {source="MONDO:equivalentTo"}
xref: SCTID:231532002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002025 {source="DOID:0060043", source="NCIT:C92202"} ! psychiatric disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236989
property_value: exactMatch DOID:0060043
property_value: exactMatch http://identifiers.org/snomedct/231532002
property_value: exactMatch NCIT:C92202

[Term]
id: MONDO:0000596
name: paraphilic disorder
def: "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)" [MESH:D010262]
synonym: "deviation, Sex" RELATED [MESH:D010262]
synonym: "Deviations, Sex" RELATED [MESH:D010262]
synonym: "disorder of sexual preference" EXACT []
synonym: "disorder, Paraphilic" EXACT [MESH:D010262]
synonym: "disorders, Paraphilic" EXACT [MESH:D010262]
synonym: "paraphilia" RELATED [MESH:D010262]
synonym: "paraphilia disorder" EXACT [DOID:0060044]
synonym: "Paraphilias" RELATED [MESH:D010262]
synonym: "paraphilic disorder" EXACT [MESH:D010262]
synonym: "Sex deviation" RELATED [MESH:D010262]
synonym: "Sex Deviations" RELATED [MESH:D010262]
xref: DOID:0060044 {source="MONDO:equivalentTo"}
xref: MESH:D010262 {source="MONDO:equivalentTo"}
xref: SCTID:50299009 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0000947 {source="MONDO:cjm", source="linkedlifedata"} ! psychosexual disorder
property_value: exactMatch DOID:0060044
property_value: exactMatch http://identifiers.org/mesh/D010262
property_value: exactMatch http://identifiers.org/snomedct/50299009

[Term]
id: MONDO:0000597
name: Munchausen by proxy
def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [DOID:0060045, http://en.wikipedia.org/wiki/Munchausen_by_proxy]
subset: gard_rare
synonym: "Munchausen by proxy syndrome" EXACT [GARD:0007117]
synonym: "Munchausen syndrome by proxy" EXACT [GARD:0007117]
xref: DOID:0060045 {source="MONDO:equivalentTo"}
xref: GARD:0007117 {source="MONDO:equivalentTo"}
xref: MESH:D016735 {source="MONDO:equivalentTo"}
xref: SCTID:95637005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002103 {source="DOID:0060045", source="linkedlifedata"} ! factitious disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085277
property_value: exactMatch DOID:0060045
property_value: exactMatch http://identifiers.org/mesh/D016735
property_value: exactMatch http://identifiers.org/snomedct/95637005
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome xsd:anyURI {source="GARD:0007117"}

[Term]
id: MONDO:0000598
name: aphasia
def: "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." [DOID:0060046, http://en.wikipedia.org/wiki/Aphasia]
xref: COHD:440424 {source="MONDO:equivalentTo"}
xref: DOID:0060046 {source="MONDO:equivalentTo"}
xref: ICD10:R47.01 {source="MONDO:equivalentTo"}
is_a: MONDO:0004750 {source="DOID:0060046"} ! language disorder
relationship: disease_has_feature MONDO:0002905 {source="Wikidata"} ! mutism (disease)
property_value: exactMatch DOID:0060046

[Term]
id: MONDO:0000599
name: writing disorder
def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." [DOID:0060047, http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities]
xref: DOID:0060047 {source="MONDO:equivalentTo"}
is_a: MONDO:0004681 {source="DOID:0060047"} ! learning disability
property_value: exactMatch DOID:0060047

[Term]
id: MONDO:0000600
name: nosophobia
def: "A specific phobia that involves an irrational fear of contracting a disease." [DOID:0060048, http://en.wikipedia.org/wiki/Nosophobia]
xref: DOID:0060048 {source="MONDO:equivalentTo"}
xref: EFO:1001903 {source="MONDO:equivalentTo"}
is_a: MONDO:0012000 {source="DOID:0060048", source="EFO:1001903"} ! specific phobia
property_value: exactMatch DOID:0060048

[Term]
id: MONDO:0000601
name: autoimmune disease of urogenital tract
def: "A hypersensitivity reaction type II disease that involves the genitourinary system." [MONDO:patterns/location]
synonym: "autoimmune disease of genitourinary system" EXACT [MONDO:design_pattern]
synonym: "genitourinary system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "genitourinary system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060049 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060049", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
is_a: MONDO:0021145 ! disease of genitourinary system
property_value: exactMatch DOID:0060049

[Term]
id: MONDO:0000602
name: autoimmune disease of blood
def: "A hypersensitivity reaction type II disease that involves the blood." [MONDO:patterns/location]
synonym: "blood autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "blood hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060050 {source="MONDO:equivalentTo"}
is_a: MONDO:0005570 ! hematologic disease
is_a: MONDO:0007179 {source="DOID:0060050", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
property_value: exactMatch DOID:0060050

[Term]
id: MONDO:0000603
name: autoimmune disease of cardiovascular system
def: "A hypersensitivity reaction type II disease that involves the cardiovascular system." [MONDO:patterns/location]
synonym: "cardiovascular system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cardiovascular system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060051 {source="MONDO:equivalentTo"}
is_a: MONDO:0004995 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiovascular disease
is_a: MONDO:0007179 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
property_value: exactMatch DOID:0060051

[Term]
id: MONDO:0000604
name: obsolete autonomic peripheral neuropathy
synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0001300

[Term]
id: MONDO:0000605
name: hypersensitivity reaction disease
def: "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." [GOC:jal, ISBN:0781735149]
synonym: "allergic reaction" EXACT [NCIT:C3114]
synonym: "hypersensitive" EXACT [NCIT:C3114]
synonym: "hypersensitivity" EXACT [NCIT:C3114]
synonym: "hypersensitivity" RELATED [NCIT:C3114]
synonym: "hypersensitivity reaction" EXACT [NCIT:C3114]
synonym: "sensitive" EXACT [NCIT:C3114]
synonym: "sensitivity" EXACT [NCIT:C3114]
xref: DOID:0060056 {source="MONDO:equivalentTo"}
xref: EFO:1002003 {source="MONDO:equivalentTo"}
xref: NCIT:C3114 {source="MONDO:equivalentTo"}
xref: SCTID:473010000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="DOID:0060056", source="EFO:1002003", source="MONDO:Redundant", source="NCIT:C3114"} ! immune system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020517
property_value: exactMatch DOID:0060056
property_value: exactMatch http://identifiers.org/snomedct/473010000
property_value: exactMatch NCIT:C3114

[Term]
id: MONDO:0000606
name: gluten allergy
def: "A allergy involving gluten." [MONDO:patterns/allergy]
synonym: "allergy of gluten" EXACT [MONDO:patterns/allergy]
synonym: "allergy to gluten" EXACT [DOID:0060057]
synonym: "gluten allergic disease" EXACT []
synonym: "gluten allergic reaction" EXACT [DOID:0060057]
xref: DOID:0060057 {source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:0060057"} ! food allergy
property_value: exactMatch DOID:0060057

[Term]
id: MONDO:0000607
name: primary cutaneous T-cell non-Hodgkin lymphoma
def: "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." [NCIT:C3467]
synonym: "CTCL" EXACT [NCIT:C3467]
synonym: "cutaneous T cell lymphoma" EXACT [NCIT:C3467]
synonym: "cutaneous T-cell lymphoma" EXACT [DOID:0060061, MONDO:0005209, NCIT:C3467]
synonym: "cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467]
synonym: "cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "PCTCL" EXACT [NCIT:C3467]
synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467]
synonym: "primary cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "skin T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "T-cell non-Hodgkin's lymphoma of skin" EXACT [NCIT:C3467]
synonym: "T-cell non-Hodgkin's lymphoma of the skin" EXACT [NCIT:C3467]
xref: DOID:0060061 {source="MONDO:equivalentTo"}
xref: EFO:0002913 {source="MONDO:equivalentTo"}
xref: ICDO:9709/3 {source="NCIT:C3467"}
xref: MESH:D016410 {source="MONDO:equivalentTo", source="DOID:0060061"}
xref: NCIT:C3467 {source="MONDO:equivalentTo", source="EFO:0002913"}
is_a: MONDO:0018898 {source="NCIT:C3467"} ! primary cutaneous lymphoma
relationship: excluded_subClassOf MONDO:0000434 {source="DOID:0060061"} ! obsolete peripheral T-cell lymphoma
property_value: closeMatch http://identifiers.org/snomedct/28054005
property_value: exactMatch DOID:0060061
property_value: exactMatch http://identifiers.org/mesh/D016410
property_value: exactMatch NCIT:C3467

[Term]
id: MONDO:0000608
name: familial juvenile hyperuricemic nephropathy
subset: gard_rare
synonym: "familial juvenile gouty nephropathy" EXACT [GARD:0000067]
synonym: "familial juvenile hyperuricemic nephropathy" EXACT [GARD:0000067]
synonym: "familial nephropathy associated with hyperuricemia" EXACT [GARD:0000067]
synonym: "familial nephropathy with gout" EXACT [GARD:0000067]
synonym: "FJHN" EXACT [GARD:0006806]
synonym: "gouty nephropathy, familial" RELATED [GARD:0000067]
synonym: "gouty nephropathy, familial juvenile" EXACT [GARD:0006806]
synonym: "juvenile gout" EXACT [GARD:0006806]
synonym: "juvenile gouty nephropathy" EXACT [GARD:0000067]
synonym: "nephropathy, familial, with gout" EXACT [GARD:0006806]
xref: DOID:0060062 {source="MONDO:equivalentTo"}
xref: GARD:0000067 {source="MONDO:equivalentTo"}
xref: MESH:C537696 {source="MONDO:equivalentTo"}
xref: OMIMPS:162000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:46785007 {source="MONDO:kboom-pr-1.00/0.79/8.63", source="MONDO:equivalentTo"}
xref: UMLS:CN239392 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:0060062", source="MESH:C537696", source="linkedlifedata/inferred"} ! kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268113
property_value: exactMatch DOID:0060062
property_value: exactMatch http://identifiers.org/mesh/C537696
property_value: exactMatch http://identifiers.org/snomedct/46785007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239392

[Term]
id: MONDO:0000609
name: obsolete sideroblastic anemia with spinocerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0010524

[Term]
id: MONDO:0000610
name: marantic endocarditis
def: "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia)." [MESH:D059905]
synonym: "non-bacterial thrombotic endocarditis" EXACT [DOID:0060068]
synonym: "nonbacterial thrombotic endocarditis" EXACT [MONDO:cjm]
xref: DOID:0060068 {source="MONDO:equivalentTo"}
xref: MESH:D059905 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:57181007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
is_a: MONDO:0000831 {source="MONDO:cjm", source="linkedlifedata"} ! thrombotic disease
is_a: MONDO:0001531 ! blood coagulation disease
is_a: MONDO:0005025 {source="DOID:0060068", source="MESH:D059905", source="MONDOLEX:0000610", source="linkedlifedata"} ! endocarditis (disease)
property_value: exactMatch DOID:0060068
property_value: exactMatch http://identifiers.org/mesh/D059905
property_value: exactMatch http://identifiers.org/snomedct/57181007

[Term]
id: MONDO:0000611
name: pre-malignant neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [DOID:0060071, http://en.wikipedia.org/wiki/Neoplasm]
xref: DOID:0060071 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="DOID:0060071", source="MONDOLEX:0000611"} ! neoplasm (disease)
is_a: MONDO:0021074 {source="MONDO:cjm"} ! precancerous condition
property_value: exactMatch DOID:0060071

[Term]
id: MONDO:0000612
name: lymphatic system cancer
def: "A malignant neoplasm involving the lymphatic part of lymphoid system" [MONDO:DesignPattern]
synonym: "cancer of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer]
synonym: "lymphatic part of lymphoid system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lymphatic part of lymphoid system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060073 {source="MONDO:equivalentTo"}
is_a: MONDO:0000621 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system cancer
is_a: MONDO:0005833 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system disease
property_value: exactMatch DOID:0060073

[Term]
id: MONDO:0000613
name: obsolete estrogen-receptor positive breast cancer
is_obsolete: true
replaced_by: MONDO:0006512

[Term]
id: MONDO:0000614
name: obsolete estrogen-receptor negative breast cancer
is_obsolete: true
replaced_by: MONDO:0006513

[Term]
id: MONDO:0000615
name: progesterone-receptor positive breast cancer
comment: Editor note: check why not in NCIT; note also that triple-positive should be classified here
xref: DOID:0060077 {source="MONDO:equivalentTo"}
is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile
property_value: exactMatch DOID:0060077

[Term]
id: MONDO:0000616
name: progesterone-receptor negative breast cancer
comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here
xref: DOID:0060078 {source="MONDO:equivalentTo"}
is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile
property_value: exactMatch DOID:0060078

[Term]
id: MONDO:0000617
name: obsolete Her2-receptor positive breast cancer
is_obsolete: true
replaced_by: MONDO:0006244

[Term]
id: MONDO:0000618
name: Her2-receptor negative breast cancer
comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here
xref: DOID:0060080 {source="MONDO:equivalentTo"}
is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile
property_value: exactMatch DOID:0060080

[Term]
id: MONDO:0000619
name: obsolete triple-receptor negative breast cancer
is_obsolete: true
replaced_by: MONDO:0005494

[Term]
id: MONDO:0000620
name: breast benign neoplasm
def: "A non-metastasizing neoplasm arising from the breast parenchyma." [NCIT:P378]
synonym: "benign breast neoplasm" EXACT [NCIT:C4505]
synonym: "benign breast tumor" EXACT [NCIT:C4505]
synonym: "benign neoplasm of breast" EXACT [NCIT:C4505]
synonym: "benign neoplasm of the breast" EXACT [NCIT:C4505]
synonym: "benign tumor of breast" EXACT [NCIT:C4505]
synonym: "benign tumor of the breast" EXACT [NCIT:C4505]
synonym: "breast benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:72576 {source="MONDO:equivalentTo"}
xref: DOID:0060082 {source="MONDO:equivalentTo"}
xref: ICD9:217 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4505 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:269485000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0000634 {source="DOID:0060082", source="MONDO:Redundant", source="linkedlifedata"} ! thoracic benign neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C4505", source="OWLReasoner:2017", source="linkedlifedata"} ! breast neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346156
property_value: exactMatch DOID:0060082
property_value: exactMatch http://identifiers.org/snomedct/269485000
property_value: exactMatch NCIT:C4505

[Term]
id: MONDO:0000621
name: immune system cancer
def: "A malignant neoplasm involving the immune system" [MONDO:DesignPattern]
synonym: "cancer of immune system" EXACT [MONDO:patterns/cancer]
synonym: "immune system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant immune system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of immune system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060083 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:0060083", source="DOID:0060083/inferred", source="MONDO:Redundant", source="MONDOLEX:0000621"} ! cancer
is_a: MONDO:0005046 {source="DOID:0060083", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system disease
property_value: exactMatch DOID:0060083

[Term]
id: MONDO:0000622
name: obsolete cell type benign neoplasm
is_obsolete: true
replaced_by: MONDO:0005165

[Term]
id: MONDO:0000623
name: obsolete organ system benign neoplasm
is_obsolete: true
replaced_by: MONDO:0005165

[Term]
id: MONDO:0000624
name: benign female reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." [NCIT:C4934]
synonym: "benign female reproductive system neoplasm" EXACT [NCIT:C4934]
synonym: "benign female reproductive system tumor" EXACT [NCIT:C4934]
synonym: "benign gynecologic neoplasm" EXACT [NCIT:C4934]
synonym: "benign gynecologic tumor" EXACT [NCIT:C4934]
synonym: "female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060086 {source="MONDO:equivalentTo"}
xref: NCIT:C4934 {source="MONDO:equivalentTo"}
xref: UMLS:C0744514 {source="MONDO:equivalentTo"}
is_a: MONDO:0000383 {source="DOID:0060086", source="MONDO:Redundant", source="MONDOLEX:0000624", source="NCIT:C4934"} ! benign reproductive system neoplasm
is_a: MONDO:0021148 {source="MONDO:Redundant", source="MONDOLEX:0000624", source="NCIT:C4934"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0947770
property_value: exactMatch DOID:0060086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744514
property_value: exactMatch NCIT:C4934

[Term]
id: MONDO:0000625
name: benign male reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." [NCIT:C4777]
synonym: "benign Male reproductive system neoplasm" EXACT [NCIT:C4777]
synonym: "benign Male reproductive system tumor" EXACT [NCIT:C4777]
synonym: "male reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060087 {source="MONDO:equivalentTo"}
xref: NCIT:C4777 {source="MONDO:equivalentTo"}
xref: UMLS:C0947786 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4777"}
is_a: MONDO:0000383 {source="DOID:0060087", source="MONDO:Redundant", source="MONDOLEX:0000625", source="NCIT:C4777"} ! benign reproductive system neoplasm
is_a: MONDO:0003150 ! male reproductive system disease
property_value: exactMatch DOID:0060087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0947786
property_value: exactMatch NCIT:C4777

[Term]
id: MONDO:0000626
name: vestibular gland benign neoplasm
def: "A benign neoplasm that involves the vestibular gland." [MONDO:patterns/location]
synonym: "vestibular gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060088 {source="MONDO:equivalentTo"}
is_a: MONDO:0000643 ! vulvar benign neoplasm
property_value: exactMatch DOID:0060088

[Term]
id: MONDO:0000627
name: benign endocrine neoplasm
def: "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." [NCIT:C4621]
synonym: "benign endocrine gland neoplasm" EXACT [NCIT:C4621]
synonym: "benign endocrine gland tumor" EXACT [NCIT:C4621]
synonym: "benign endocrine neoplasm" EXACT [NCIT:C4621]
synonym: "benign endocrine tumor" EXACT [NCIT:C4621]
synonym: "benign neoplasm of endocrine gland" EXACT [NCIT:C4621]
synonym: "benign neoplasm of the endocrine gland" EXACT [NCIT:C4621]
synonym: "benign tumor of endocrine gland" EXACT [NCIT:C4621]
synonym: "benign tumor of the endocrine gland" EXACT [NCIT:C4621]
synonym: "endocrine gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "endocrine organ benign neoplasm" EXACT [DOID:0060089]
xref: COHD:136937 {source="MONDO:equivalentTo"}
xref: DOID:0060089 {source="MONDO:equivalentTo"}
xref: ICD9:227.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:227.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4621 {source="MONDO:equivalentTo"}
xref: SCTID:92085000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0347524 {source="MONDO:equivalentTo", source="NCIT:C4621"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="MONDOLEX:0000627", source="NCIT:C4621", source="linkedlifedata"} ! endocrine gland neoplasm
is_a: MONDO:0005165 {source="DOID:0060089", source="DOID:0060089/inferred", source="MONDO:Redundant", source="MONDOLEX:0000627", source="linkedlifedata"} ! benign neoplasm
property_value: exactMatch DOID:0060089
property_value: exactMatch http://identifiers.org/snomedct/92085000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347524
property_value: exactMatch NCIT:C4621

[Term]
id: MONDO:0000628
name: central nervous system organ benign neoplasm
def: "A benign neoplasm that involves the central nervous system." [MONDO:patterns/location]
synonym: "central nervous system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060090 {source="MONDO:equivalentTo"}
is_a: MONDO:0000648 {source="DOID:0060090", source="MONDO:Redundant", source="MONDOLEX:0000628"} ! nervous system benign neoplasm
is_a: MONDO:0006130 ! central nervous system neoplasm
property_value: exactMatch DOID:0060090

[Term]
id: MONDO:0000629
name: cardiovascular organ benign neoplasm
def: "A benign neoplasm that involves the cardiovascular system." [MONDO:patterns/location]
synonym: "cardiovascular system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060091 {source="MONDO:equivalentTo"}
is_a: MONDO:0005165 {source="DOID:0060091", source="DOID:0060091/inferred", source="MONDO:Redundant", source="MONDOLEX:0000629"} ! benign neoplasm
is_a: MONDO:0024757 ! cardiovascular neoplasm
property_value: exactMatch DOID:0060091

[Term]
id: MONDO:0000630
name: immune system organ benign neoplasm
def: "A benign neoplasm that involves the immune organ." [MONDO:patterns/location]
synonym: "immune organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060092 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0005165 {source="DOID:0060092", source="DOID:0060092/inferred", source="MONDO:Redundant", source="MONDOLEX:0000630"} ! benign neoplasm
property_value: exactMatch DOID:0060092

[Term]
id: MONDO:0000631
name: bone benign neoplasm
def: "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." [NCIT:P378]
synonym: "benign bone neoplasm" EXACT [NCIT:C4880]
synonym: "benign bone tumor" EXACT [NCIT:C4880]
synonym: "benign neoplasm of bone" EXACT [NCIT:C4880]
synonym: "benign neoplasm of the bone" EXACT [NCIT:C4880]
synonym: "benign osseous neoplasm" EXACT [NCIT:C4880]
synonym: "benign osseous tumor" EXACT [NCIT:C4880]
synonym: "benign tumor of bone" EXACT [NCIT:C4880]
synonym: "benign tumor of the bone" EXACT [NCIT:C4880]
synonym: "bone tissue benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:74606 {source="MONDO:equivalentTo"}
xref: DOID:0060094 {source="MONDO:equivalentTo"}
xref: ICD9:213.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4880 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92027006 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed", source="NCIT:C4880"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0019060 ! bone neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153959
property_value: exactMatch DOID:0060094
property_value: exactMatch http://identifiers.org/snomedct/92027006
property_value: exactMatch NCIT:C4880

[Term]
id: MONDO:0000632
name: uterine benign neoplasm
def: "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." [NCIT:P378]
synonym: "benign neoplasm of the uterus" EXACT [NCIT:C3609]
synonym: "benign neoplasm of uterus" EXACT [NCIT:C3609]
synonym: "benign tumor of the uterus" EXACT [NCIT:C3609]
synonym: "benign tumor of uterus" EXACT [NCIT:C3609]
synonym: "benign uterine neoplasm" EXACT [NCIT:C3609]
synonym: "benign uterine neoplasm NOS" RELATED EXCLUDE [NCIT:C3609]
synonym: "benign uterine neoplasms" EXACT [NCIT:C3609]
synonym: "benign uterine tumor" EXACT [NCIT:C3609]
synonym: "benign uterine tumors" EXACT [NCIT:C3609]
synonym: "benign uterus neoplasm" EXACT [NCIT:C3609]
synonym: "benign uterus neoplasms" EXACT [NCIT:C3609]
synonym: "benign uterus tumor" EXACT [NCIT:C3609]
synonym: "benign uterus tumors" EXACT [NCIT:C3609]
synonym: "uterine neoplasms, benign" EXACT [NCIT:C3609]
synonym: "uterine tumors, benign" EXACT [NCIT:C3609]
synonym: "Uterous neoplasms, benign" EXACT [NCIT:C3609]
synonym: "Uterous tumors, benign" EXACT [NCIT:C3609]
synonym: "uterus benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:195500 {source="MONDO:equivalentTo"}
xref: DOID:0060095 {source="MONDO:equivalentTo"}
xref: ICD9:219.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:219.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3609 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92470003 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C0153999 {source="NCIT:C3609", source="MONDO:equivalentTo"}
is_a: MONDO:0000624 {source="DOID:0060095", source="MONDO:Entailed", source="NCIT:C3609"} ! benign female reproductive system neoplasm
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3609", source="linkedlifedata"} ! tumor of uterus
property_value: exactMatch DOID:0060095
property_value: exactMatch http://identifiers.org/snomedct/92470003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153999
property_value: exactMatch NCIT:C3609

[Term]
id: MONDO:0000633
name: sensory organ benign neoplasm
def: "A benign neoplasm that involves the sense organ." [MONDO:patterns/location]
synonym: "sense organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060096 {source="MONDO:equivalentTo"}
is_a: MONDO:0000648 {source="DOID:0060096", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system benign neoplasm
property_value: exactMatch DOID:0060096

[Term]
id: MONDO:0000634
name: thoracic benign neoplasm
alt_id: MONDO:0021448
def: "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." [NCIT:C4565]
synonym: "benign neoplasm of the thorax" EXACT [NCIT:C4565]
synonym: "benign neoplasm of thorax" EXACT [NCIT:C4565]
synonym: "benign thoracic neoplasm" EXACT [NCIT:C4565]
synonym: "benign thoracic tumor" EXACT [NCIT:C4565]
synonym: "benign tumor of the thorax" EXACT [NCIT:C4565]
synonym: "benign tumor of thorax" EXACT [NCIT:C4565]
synonym: "thoracic segment of trunk benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060097 {source="MONDO:equivalentTo"}
xref: ICD9:229.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4565 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:255059002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346440 {source="MONDO:equivalentTo", source="NCIT:C4565"}
is_a: MONDO:0005165 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Redundant", source="MONDOLEX:0000634", source="linkedlifedata/inferred"} ! benign neoplasm
is_a: MONDO:0021350 {source="MONDO:Redundant", source="MONDOLEX:0000634", source="NCIT:C4565", source="linkedlifedata"} ! neoplasm of thorax
property_value: exactMatch DOID:0060097
property_value: exactMatch http://identifiers.org/snomedct/255059002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346440
property_value: exactMatch NCIT:C4565

[Term]
id: MONDO:0000635
name: obsolete osteoblastoma
is_obsolete: true
replaced_by: MONDO:0018936

[Term]
id: MONDO:0000636
name: musculoskeletal system benign neoplasm
def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patterns/location]
synonym: "musculoskeletal system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060099 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="DOID:0060099", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease
is_a: MONDO:0005165 {source="DOID:0060099", source="DOID:0060099/inferred", source="MONDO:Redundant", source="MONDOLEX:0000636"} ! benign neoplasm
property_value: exactMatch DOID:0060099

[Term]
id: MONDO:0000637
name: musculoskeletal system cancer
def: "A malignant neoplasm involving the musculoskeletal system" [MONDO:DesignPattern]
synonym: "cancer of musculoskeletal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant musculoskeletal system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of musculoskeletal system" EXACT [MONDO:patterns/cancer]
synonym: "musculoskeletal system cancer" EXACT [MONDO:patterns/location]
synonym: "skeletal system cancer" RELATED [DOID:0060100]
xref: DOID:0060100 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="DOID:0060100", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disease
is_a: MONDO:0004992 {source="DOID:0060100", source="DOID:0060100/inferred", source="MONDO:Redundant", source="MONDOLEX:0000637"} ! cancer
property_value: exactMatch DOID:0060100

[Term]
id: MONDO:0000638
name: benign glioma
def: "A form of glioma without malignant characteristics." [MONDO:patterns/benign]
synonym: "glioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:0060101 {source="MONDO:equivalentTo"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0021042 ! glioma
property_value: exactMatch DOID:0060101

[Term]
id: MONDO:0000639
name: cartilage cancer
def: "A cancer involving a cartilage tissue." [MONDO:patterns/cancer]
subset: gard_rare
synonym: "cancer of cartilage tissue" EXACT [MONDO:patterns/cancer]
synonym: "cartilage tissue cancer" EXACT [MONDO:patterns/location]
synonym: "cartilaginous cancer" EXACT [GARD:0006004]
synonym: "malignant cartilage tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cartilage tissue" EXACT [MONDO:patterns/cancer]
xref: DOID:0060102 {source="MONDO:equivalentTo"}
xref: GARD:0006004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0005569 ! cartilage disease
property_value: exactMatch DOID:0060102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer xsd:anyURI {source="GARD:0006004"}

[Term]
id: MONDO:0000640
name: central nervous system primitive neuroectodermal neoplasm
def: "A neuroectodermal tumor that involves the central nervous system." [MONDO:patterns/location]
comment: NCIT calls this CNS embryonal tumor, NOS
synonym: "central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398]
synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398]
synonym: "central nervous system neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system PNET" EXACT [NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal tumor (WHO grade IV)" EXACT [NCIT:C5398]
synonym: "central primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "central primitive neuroectodermal tumor" EXACT [NCIT:C5398]
synonym: "CNS embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398]
synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398]
synonym: "CNS PNET" EXACT [NCIT:C5398]
synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398]
synonym: "primitive neuroectodermal tumor of central nervous system" EXACT [MONDO:design_pattern]
xref: DOID:0060103 {source="MONDO:equivalentTo"}
xref: NCIT:C5398 {source="MONDO:equivalentTo"}
xref: UMLS:CN201960 {source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="DOID:0060103", source="MONDO:Entailed", source="NCIT:C5398/inferred"} ! central nervous system cancer
is_a: MONDO:0005462 {source="DOID:0060103", source="MONDO:Entailed", source="MONDO:Redundant"} ! primitive neuroectodermal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887678
property_value: exactMatch DOID:0060103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201960
property_value: exactMatch NCIT:C5398

[Term]
id: MONDO:0000641
name: obsolete cerebellar medulloblastoma
def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." [DOID:0060104, http://en.wikipedia.org/wiki/Medulloblastoma]
is_obsolete: true
replaced_by: MONDO:0007959

[Term]
id: MONDO:0000642
name: brain meningioma
def: "A meningioma (disease) that involves the brain." [MONDO:patterns/location]
comment: Editor note: TODO check
synonym: "brain meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of brain" EXACT []
xref: DOID:0060106 {source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="DOID:0060106", source="MONDO:Redundant", source="MONDOLEX:0000642"} ! meningioma (disease)
is_a: MONDO:0021211 ! brain neoplasm
relationship: excluded_subClassOf MONDO:0001657 {source="DOID:0060106"} ! brain cancer
property_value: exactMatch DOID:0060106

[Term]
id: MONDO:0000643
name: vulvar benign neoplasm
def: "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma." [NCIT:P378]
synonym: "benign neoplasm of the vulva" EXACT [NCIT:C3611]
synonym: "benign neoplasm of vulva" EXACT [NCIT:C3611]
synonym: "benign tumor of the vulva" EXACT [NCIT:C3611]
synonym: "benign tumor of vulva" EXACT [NCIT:C3611]
synonym: "benign vulva neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulva tumor" EXACT [NCIT:C3611]
synonym: "benign vulval neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulvar neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulvar tumor" EXACT [NCIT:C3611]
synonym: "mammalian vulva benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulva benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:438390 {source="MONDO:equivalentTo"}
xref: DOID:0060109 {source="MONDO:equivalentTo"}
xref: NCIT:C3611 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92486005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154003 {source="MONDO:equivalentTo", source="NCIT:C3611"}
is_a: MONDO:0000624 {source="DOID:0060109", source="MONDO:Redundant", source="NCIT:C3611"} ! benign female reproductive system neoplasm
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C3611", source="OWLReasoner:2017", source="linkedlifedata"} ! vulvar neoplasm
property_value: exactMatch DOID:0060109
property_value: exactMatch http://identifiers.org/snomedct/92486005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154003
property_value: exactMatch NCIT:C3611

[Term]
id: MONDO:0000644
name: cervical benign neoplasm
def: "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma." [NCIT:P378]
synonym: "benign cervical neoplasm" EXACT [NCIT:C3607]
synonym: "benign cervix uteri neoplasm" EXACT [NCIT:C3607]
synonym: "benign cervix uteri neoplasm NOS" RELATED EXCLUDE [NCIT:C3607]
synonym: "benign cervix uteri tumor" EXACT [NCIT:C3607]
synonym: "benign neoplasm of cervix uteri" EXACT [NCIT:C3607]
synonym: "benign neoplasm of the cervix uteri" EXACT [NCIT:C3607]
synonym: "benign neoplasm of the uterine cervix" EXACT [NCIT:C3607]
synonym: "benign neoplasm of uterine cervix" EXACT [NCIT:C3607]
synonym: "benign tumor of cervix uteri" EXACT [NCIT:C3607]
synonym: "benign tumor of the cervix uteri" EXACT [NCIT:C3607]
synonym: "benign tumor of the uterine cervix" EXACT [NCIT:C3607]
synonym: "benign tumor of uterine cervix" EXACT [NCIT:C3607]
synonym: "benign uterine cervix neoplasm" EXACT [NCIT:C3607]
synonym: "benign uterine cervix tumor" EXACT [NCIT:C3607]
synonym: "uterine cervix benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:196364 {source="MONDO:equivalentTo"}
xref: DOID:0060110 {source="MONDO:equivalentTo"}
xref: NCIT:C3607 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92056006 {source="MONDO:equivalentTo"}
xref: UMLS:C0153997 {source="NCIT:C3607", source="MONDO:equivalentTo"}
is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C3607", source="linkedlifedata"} ! uterine benign neoplasm
is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C3607"} ! uterine cervix neoplasm
property_value: exactMatch DOID:0060110
property_value: exactMatch http://identifiers.org/snomedct/92056006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153997
property_value: exactMatch NCIT:C3607

[Term]
id: MONDO:0000645
name: fallopian tube benign neoplasm
def: "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." [NCIT:P378]
subset: ordo_disease {source="Orphanet:180237"}
synonym: "benign fallopian tube neoplasm" EXACT [NCIT:C4517]
synonym: "benign fallopian tube tumor" EXACT [NCIT:C4517]
synonym: "benign neoplasm of fallopian tube" EXACT [NCIT:C4517]
synonym: "benign neoplasm of the fallopian tube" EXACT [NCIT:C4517]
synonym: "benign tumor of fallopian tube" EXACT [NCIT:C4517]
synonym: "benign tumor of fallopian tubes" EXACT [MONDO:0015865]
synonym: "benign tumor of the fallopian tube" EXACT [NCIT:C4517]
synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517]
synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517]
xref: DOID:0060111 {source="MONDO:equivalentTo"}
xref: ICD10:D28.2 {source="ORDO:180237/ntbt", source="Orphanet:180237"}
xref: MedDRA:10053865 {source="Orphanet:180237", source="ORDO:180237/e"}
xref: NCIT:C4517 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:180237 {source="MONDO:equivalentTo"}
xref: SCTID:92100009 {source="MONDO:kboom-pr-0.77/0.38/0.80", source="MONDO:equivalentTo"}
xref: UMLS:C0346190 {source="MONDO:equivalentTo", source="NCIT:C4517", source="Orphanet:180237", source="ORDO:180237/e"}
is_a: MONDO:0000624 {source="DOID:0060111", source="MONDO:Redundant", source="NCIT:C4517"} ! benign female reproductive system neoplasm
is_a: MONDO:0015861 {source="Orphanet:180237"} ! rare uterine adnexal tumor
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C4517", source="OWLReasoner:2017", source="linkedlifedata"} ! fallopian tube neoplasm
property_value: exactMatch DOID:0060111
property_value: exactMatch http://identifiers.org/meddra/10053865
property_value: exactMatch http://identifiers.org/snomedct/92100009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346190
property_value: exactMatch NCIT:C4517
property_value: exactMatch Orphanet:180237

[Term]
id: MONDO:0000646
name: ovarian benign neoplasm
def: "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." [NCIT:P378]
synonym: "benign neoplasm of ovary" EXACT [NCIT:C2895]
synonym: "benign neoplasm of the ovary" EXACT [NCIT:C2895]
synonym: "benign ovarian neoplasm" EXACT [NCIT:C2895]
synonym: "benign ovarian tumor" EXACT [NCIT:C2895]
synonym: "benign tumor of ovary" EXACT [NCIT:C2895]
synonym: "benign tumor of the ovary" EXACT [NCIT:C2895]
synonym: "ovary benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:199764 {source="MONDO:equivalentTo"}
xref: DOID:0060112 {source="MONDO:equivalentTo"}
xref: EFO:1000116 {source="MONDO:equivalentTo"}
xref: NCIT:C2895 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92260003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000624 {source="DOID:0060112", source="MONDO:Redundant", source="NCIT:C2895"} ! benign female reproductive system neoplasm
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C2895", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004997
property_value: exactMatch DOID:0060112
property_value: exactMatch http://identifiers.org/snomedct/92260003
property_value: exactMatch NCIT:C2895

[Term]
id: MONDO:0000647
name: benign vaginal neoplasm
def: "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." [NCIT:C3610]
synonym: "benign neoplasm of the vagina" EXACT [NCIT:C3610]
synonym: "benign neoplasm of vagina" EXACT [NCIT:C3610]
synonym: "benign tumor of the vagina" EXACT [NCIT:C3610]
synonym: "benign tumor of vagina" EXACT [NCIT:C3610]
synonym: "benign vaginal neoplasm" EXACT [NCIT:C3610]
synonym: "benign vaginal neoplasms" EXACT [NCIT:C3610]
synonym: "benign vaginal tumor" EXACT [NCIT:C3610]
synonym: "vagina benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vagina female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal benign neoplasm" EXACT [DOID:0060114]
xref: COHD:201244 {source="MONDO:equivalentTo"}
xref: DOID:0060114 {source="MONDO:equivalentTo"}
xref: ICD9:221.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3610 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92473001 {source="DesignPattern", source="MONDO:kboom-pr-0.99/0.92/3.46", source="MONDO:equivalentTo"}
xref: UMLS:C0154002 {source="MONDO:equivalentTo", source="NCIT:C3610"}
is_a: MONDO:0000624 {source="DOID:0060114", source="MONDO:Redundant", source="MONDOLEX:0000647", source="NCIT:C3610"} ! benign female reproductive system neoplasm
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C3610", source="OWLReasoner:2017", source="linkedlifedata"} ! vaginal neoplasm
property_value: exactMatch DOID:0060114
property_value: exactMatch http://identifiers.org/snomedct/92473001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154002
property_value: exactMatch NCIT:C3610

[Term]
id: MONDO:0000648
name: nervous system benign neoplasm
def: "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." [NCIT:P378]
synonym: "benign neoplasm of nervous system" EXACT [NCIT:C4789]
synonym: "benign neoplasm of the nervous system" EXACT [NCIT:C4789]
synonym: "benign nervous system neoplasm" EXACT [NCIT:C4789]
synonym: "benign nervous system tumor" EXACT [NCIT:C4789]
synonym: "benign tumor of nervous system" EXACT [NCIT:C4789]
synonym: "benign tumor of the nervous system" EXACT [NCIT:C4789]
synonym: "nervous system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasm, benign" EXACT [NCIT:C4789]
xref: COHD:373432 {source="MONDO:equivalentTo"}
xref: DOID:0060115 {source="MONDO:equivalentTo"}
xref: ICD9:225.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:225.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4789 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92247009 {source="MONDO:kboom-pr-0.71/0.37/0.22", source="MONDO:equivalentTo"}
xref: UMLS:C0497550 {source="MONDO:equivalentTo", source="NCIT:C4789"}
is_a: MONDO:0005165 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Redundant", source="MONDOLEX:0000648", source="linkedlifedata"} ! benign neoplasm
is_a: MONDO:0021248 {source="MONDO:Redundant", source="MONDOLEX:0000648", source="NCIT:C4789"} ! nervous system neoplasm
property_value: exactMatch DOID:0060115
property_value: exactMatch http://identifiers.org/snomedct/92247009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497550
property_value: exactMatch NCIT:C4789

[Term]
id: MONDO:0000649
name: sensory system cancer
def: "A malignant neoplasm involving the sensory system" [MONDO:DesignPattern]
synonym: "cancer of sensory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sensory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant sensory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "sensory system cancer" EXACT [MONDO:patterns/location]
xref: DOID:0060116 {source="MONDO:equivalentTo"}
is_a: MONDO:0005872 {source="DOID:0060116", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system cancer
property_value: exactMatch DOID:0060116

[Term]
id: MONDO:0000650
name: peritoneal benign neoplasm
def: "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." [NCIT:C8612]
synonym: "benign peritoneal neoplasm" EXACT [NCIT:C8612]
synonym: "peritoneum benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060117 {source="MONDO:equivalentTo"}
xref: NCIT:C8612 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0496874 {source="MONDO:equivalentTo", source="NCIT:C8612"}
is_a: MONDO:0005165 {source="DOID:0060117", source="DOID:0060117/inferred", source="MONDO:Redundant", source="MONDOLEX:0000650"} ! benign neoplasm
is_a: MONDO:0006901 {source="MONDO:Redundant", source="MONDOLEX:0000650", source="NCIT:C8612"} ! peritoneal neoplasm
property_value: exactMatch DOID:0060117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496874
property_value: exactMatch NCIT:C8612

[Term]
id: MONDO:0000651
name: thoracic disease
def: "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." [NCIT:C35742]
synonym: "disease of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of thoracic segment of trunk" EXACT []
synonym: "disorder of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
synonym: "disorder of thoracic segment of trunk" RELATED [MONDO:patterns/location_top]
synonym: "disorder of thorax" EXACT []
synonym: "thoracic disease" EXACT [NCIT:C35742]
synonym: "thoracic disorder" EXACT [NCIT:C35742]
synonym: "thoracic segment of trunk disease" EXACT [MONDO:patterns/location]
synonym: "thoracic segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060118 {source="MONDO:equivalentTo"}
xref: MESH:D013896 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35742 {source="MONDO:equivalentTo", source="NCIT:C35742"}
xref: SCTID:118946009 {source="MONDO:equivalentTo"}
xref: SCTID:609622007 {source="MONDO:equivalentTo"}
xref: UMLS:C0039978 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35742"}
xref: UMLS:C3661979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder by anatomical region
property_value: exactMatch DOID:0060118
property_value: exactMatch http://identifiers.org/mesh/D013896
property_value: exactMatch http://identifiers.org/snomedct/118946009
property_value: exactMatch http://identifiers.org/snomedct/609622007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039978
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661979
property_value: exactMatch NCIT:C35742

[Term]
id: MONDO:0000652
name: integumentary system benign neoplasm
def: "A benign neoplasm that involves the integumental system." [MONDO:patterns/location]
synonym: "integumental system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060121 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:0060121", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disease
is_a: MONDO:0005165 {source="DOID:0060121", source="DOID:0060121/inferred", source="MONDO:Redundant", source="MONDOLEX:0000652"} ! benign neoplasm
property_value: exactMatch DOID:0060121

[Term]
id: MONDO:0000653
name: integumentary system cancer
def: "A malignant neoplasm involving the integumental system" [MONDO:DesignPattern]
synonym: "cancer of integumental system" EXACT [MONDO:patterns/cancer]
synonym: "integumental system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant integumental system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of integumental system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060122 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:0060122", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disease
is_a: MONDO:0004992 {source="DOID:0060122", source="DOID:0060122/inferred", source="MONDO:Redundant", source="MONDOLEX:0000653"} ! cancer
property_value: exactMatch DOID:0060122

[Term]
id: MONDO:0000654
name: benign connective and soft tissue neoplasm
def: "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." [NCIT:C53684]
synonym: "benign connective and soft tissue neoplasm" EXACT [NCIT:C53684]
synonym: "benign connective and soft tissue tumor" EXACT [NCIT:C53684]
synonym: "benign mesenchymal cell neoplasm" EXACT [NCIT:C53684]
synonym: "benign neoplasm of the soft tissue and bone" EXACT [NCIT:C53684]
synonym: "benign tumor of the soft tissue and bone" EXACT [NCIT:C53684]
synonym: "connective and soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign, NCIT:C53684]
synonym: "connective tissue benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasm of soft tissue" RELATED [DOID:0060123]
synonym: "neoplasm of soft tissues" RELATED [DOID:0060123]
synonym: "soft tissue benign neoplasm" RELATED [DOID:0060123]
synonym: "tumor of the soft tissue" RELATED [DOID:0060123, NCIT:C3377]
xref: COHD:374882 {source="MONDO:equivalentTo"}
xref: DOID:0060123 {source="MONDO:equivalentTo"}
xref: NCIT:C53684 {source="MONDO:equivalentTo"}
is_a: MONDO:0000636 {source="DOID:0060123", source="MONDO:Entailed"} ! musculoskeletal system benign neoplasm
is_a: MONDO:0021581 ! connective tissue neoplasm
is_a: MONDO:0044334 {source="MONDO:Redundant", source="MONDOLEX:0000654", source="NCIT:C53684"} ! connective and soft tissue neoplasm
property_value: closeMatch http://identifiers.org/mesh/D012983
property_value: closeMatch http://identifiers.org/snomedct/126600002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0347481
property_value: exactMatch DOID:0060123
property_value: exactMatch NCIT:C53684

[Term]
id: MONDO:0000655
name: obsolete heavy chain disease
is_obsolete: true
replaced_by: MONDO:0019464

[Term]
id: MONDO:0000656
name: obsolete alpha chain disease
is_obsolete: true
replaced_by: MONDO:0015045

[Term]
id: MONDO:0000657
name: obsolete gamma heavy chain disease
is_obsolete: true
replaced_by: MONDO:0015046

[Term]
id: MONDO:0000658
name: obsolete mu chain disease
is_obsolete: true
replaced_by: MONDO:0015044

[Term]
id: MONDO:0000659
name: delta-heavy chain disease
def: "A heavy chain disease that results from an overproduction of delta antibody (IgD)." [DOID:0060129, http://en.wikipedia.org/wiki/Heavy_chain_disease]
synonym: "delta chain disease" EXACT []
synonym: "delta heavy chain disease" EXACT [MONDO:cjm]
synonym: "IgD heavy chain disease" EXACT []
xref: DOID:0060129 {source="MONDO:equivalentTo"}
xref: ICD9:203.80 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:20224008 {source="MONDO:equivalentTo"}
xref: UMLS:C0272253 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019464 {source="DOID:0060129", source="linkedlifedata"} ! heavy chain disease
property_value: exactMatch DOID:0060129
property_value: exactMatch http://identifiers.org/snomedct/20224008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272253

[Term]
id: MONDO:0000660
name: akinetopsia
def: "An agnosia that is a loss of motion perception." [DOID:0060130, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060130 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060130", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: exactMatch DOID:0060130

[Term]
id: MONDO:0000661
name: alexithymia
def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [DOID:0060131, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060131 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060131"} ! agnosia
property_value: exactMatch DOID:0060131

[Term]
id: MONDO:0000662
name: amusia
def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." [DOID:0060132, http://en.wikipedia.org/wiki/Agnosia]
synonym: "receptive amusia" EXACT [DOID:0060132]
xref: DOID:0060132 {source="MONDO:equivalentTo"}
xref: UMLS:C0234497 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060132"} ! agnosia
property_value: exactMatch DOID:0060132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234497

[Term]
id: MONDO:0000663
name: anosognosia
def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." [DOID:0060133, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060133 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060133"} ! agnosia
property_value: exactMatch DOID:0060133

[Term]
id: MONDO:0000664
name: apperceptive agnosia
def: "An agnosia that is a loss of the ability to distinguish visual shapes." [DOID:0060134, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060134 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="MONDO:cjm"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060134

[Term]
id: MONDO:0000665
name: apraxia
def: "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." [https://rarediseases.info.nih.gov/diseases/5838/apraxia]
subset: gard_rare {source="GARD:0005838"}
synonym: "Apraxias" EXACT [MESH:D001072]
synonym: "dyspraxia" EXACT [GARD:0005838]
xref: DOID:0060135 {source="MONDO:equivalentTo"}
xref: GARD:0005838 {source="MONDO:equivalentTo"}
xref: ICD10:R48.2 {source="MONDO:equivalentTo"}
xref: MESH:D001072 {source="MONDO:equivalentTo"}
is_a: MONDO:0024417 {source="MONDO:cjm"} ! perceptual disorders
relationship: excluded_subClassOf MONDO:0005638 {source="DOID:0060135"} ! agnosia
property_value: exactMatch DOID:0060135
property_value: exactMatch http://identifiers.org/mesh/D001072
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5838/apraxia xsd:anyURI {source="GARD:0005838"}

[Term]
id: MONDO:0000666
name: associative visual agnosia
def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them." [DOID:0060136, http://en.wikipedia.org/wiki/Agnosia]
synonym: "associative agnosia" RELATED [DOID:0060136]
xref: DOID:0060136 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="MONDO:cjm", source="MONDOLEX:0000666"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060136

[Term]
id: MONDO:0000667
name: auditory agnosia
def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." [DOID:0060137, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060137 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060137", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
is_a: MONDO:0024422 ! auditory perceptual disorders
property_value: exactMatch DOID:0060137

[Term]
id: MONDO:0000668
name: autotopagnosia
def: "An agnosia that is a loss of the ability to orient parts of the body." [DOID:0060138, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060138 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060138"} ! agnosia
property_value: exactMatch DOID:0060138

[Term]
id: MONDO:0000669
name: color agnosia
def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." [DOID:0060139, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060139 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="MONDO:cjm"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060139

[Term]
id: MONDO:0000670
name: cortical deafness
def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." [DOID:0060140, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060140 {source="MONDO:equivalentTo"}
xref: UMLS:C0392704 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000667 ! auditory agnosia
property_value: exactMatch DOID:0060140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392704

[Term]
id: MONDO:0000671
name: finger agnosia (disease)
def: "An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers" [https://en.wikipedia.org/wiki/Finger_agnosia, MONDO:cjm]
comment: It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50.
synonym: "finger agnosia" EXACT [MONDO:ambiguous]
synonym: "manual digit agnosia" EXACT [MONDO:patterns/location]
xref: DOID:0060141 {source="MONDO:equivalentTo"}
xref: HP:0010525 {source="MONDO:otherHierarchy", source="ontobio"}
is_a: MONDO:0005638 {source="DOID:0060141", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: exactMatch DOID:0060141

[Term]
id: MONDO:0000672
name: form agnosia
def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." [DOID:0060142, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060142 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="MONDO:cjm"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060142

[Term]
id: MONDO:0000673
name: integrative agnosia
def: "Agnosia characterized by the inability to integrate perceptual wholes within knowledge." [https://en.wikipedia.org/wiki/Integrative_agnosia]
xref: DOID:0060143 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060143"} ! agnosia
property_value: exactMatch DOID:0060143

[Term]
id: MONDO:0000674
name: mirror agnosia
def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." [DOID:0060144, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060144 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060144"} ! agnosia
property_value: exactMatch DOID:0060144

[Term]
id: MONDO:0000675
name: pain agnosia
def: "Loss of the ability to perceive and process pain." [NCIT:C125664]
synonym: "analgesia" RELATED [DOID:0060145]
xref: DOID:0060145 {source="MONDO:equivalentTo"}
xref: EFO:1001484 {source="MONDO:equivalentTo"}
xref: NCIT:C125664 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0005638 {source="DOID:0060145", source="EFO:1001484", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0563625
property_value: exactMatch DOID:0060145
property_value: exactMatch NCIT:C125664

[Term]
id: MONDO:0000676
name: phonagnosia
def: "An agnosia that is a loss of the ability to recognize familiar voices." [DOID:0060146, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060146 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060146"} ! agnosia
property_value: exactMatch DOID:0060146

[Term]
id: MONDO:0000677
name: semantic agnosia
def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." [DOID:0060147, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060147 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060147"} ! agnosia
property_value: exactMatch DOID:0060147

[Term]
id: MONDO:0000678
name: simultanagnosia
def: "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [DOID:0060148, http://en.wikipedia.org/wiki/Agnosia]
subset: gard_rare {source="GARD:0011943"}
xref: DOID:0060148 {source="MONDO:equivalentTo"}
xref: GARD:0011943 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060148"} ! agnosia
property_value: exactMatch DOID:0060148
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia xsd:anyURI {source="GARD:0011943"}

[Term]
id: MONDO:0000679
name: social emotional agnosia
def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." [DOID:0060149, http://en.wikipedia.org/wiki/Agnosia]
synonym: "expressive agnosia" EXACT [DOID:0060149]
xref: DOID:0060149 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060149"} ! agnosia
property_value: exactMatch DOID:0060149

[Term]
id: MONDO:0000680
name: astereognosia (disease)
def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [DOID:0060150, http://en.wikipedia.org/wiki/Agnosia]
synonym: "astereognosia" EXACT [MONDO:ambiguous]
synonym: "somatosensory agnosia" EXACT [DOID:0060150]
xref: DOID:0060150 {source="MONDO:equivalentTo"}
xref: HP:0010527 {source="MONDO:otherHierarchy", source="ontobio"}
is_a: MONDO:0005638 {source="DOID:0060150", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: exactMatch DOID:0060150

[Term]
id: MONDO:0000681
name: tactile agnosia
def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." [DOID:0060151, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060151 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060151", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: exactMatch DOID:0060151

[Term]
id: MONDO:0000682
name: time agnosia
def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events." [DOID:0060152, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060152 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060152"} ! agnosia
property_value: exactMatch DOID:0060152

[Term]
id: MONDO:0000683
name: topographical agnosia
def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." [DOID:0060153, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060153 {source="MONDO:equivalentTo"}
xref: SCTID:83824009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.82"}
is_a: MONDO:0000685 {source="DOID:0060153"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060153
property_value: exactMatch http://identifiers.org/snomedct/83824009

[Term]
id: MONDO:0000684
name: verbal auditory agnosia
def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." [DOID:0060154, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060154 {source="MONDO:equivalentTo"}
is_a: MONDO:0000667 {source="MONDOLEX:0000684"} ! auditory agnosia
property_value: exactMatch DOID:0060154

[Term]
id: MONDO:0000685
name: visual agnosia (disease)
def: "An inability to recognize or interpret objects by sight." [NCIT:C35276]
synonym: "visual agnosia" EXACT [MONDO:ambiguous]
synonym: "visuoperceptual agnosia" EXACT [MONDO:cjm]
xref: DOID:0060155 {source="MONDO:equivalentTo"}
xref: HP:0030222 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C35276 {source="MONDO:kboom-pr-1.00/0.91/28.79", source="MONDO:equivalentTo"}
xref: SCTID:25762009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.82"}
is_a: MONDO:0005638 {source="DOID:0060155", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C35276/inferred", source="NCIT:C53534", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder
property_value: closeMatch http://identifiers.org/mesh/C531604
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0234502
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930796
property_value: exactMatch DOID:0060155
property_value: exactMatch http://identifiers.org/snomedct/25762009
property_value: exactMatch NCIT:C35276

[Term]
id: MONDO:0000686
name: alexia without agraphia
def: "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)" [MESH:D020237]
synonym: "agnosia, visual verbal" EXACT [MESH:D020237]
synonym: "Agnosias, visual verbal" EXACT [MESH:D020237]
synonym: "agraphia, alexia without" RELATED [MESH:D020237]
synonym: "Agraphias, alexia without" RELATED [MESH:D020237]
synonym: "alexia syndrome without agraphia" RELATED [MESH:D020237]
synonym: "alexia without agraphia" EXACT [MESH:D020237]
synonym: "alexia without Agraphias" RELATED [MESH:D020237]
synonym: "alexias, Pure" RELATED [MESH:D020237]
synonym: "blindness, Pure Word" RELATED [MESH:D020237]
synonym: "Blindnesses, Pure Word" RELATED [MESH:D020237]
synonym: "Pure alexia" RELATED [MESH:D020237]
synonym: "Pure alexia without agraphia" RELATED [MESH:D020237]
synonym: "Pure alexias" RELATED [MESH:D020237]
synonym: "Pure Word blindness" RELATED [MESH:D020237]
synonym: "Pure Word Blindnesses" RELATED [MESH:D020237]
synonym: "verbal agnosia, visual" RELATED [MESH:D020237]
synonym: "verbal Agnosias, visual" RELATED [MESH:D020237]
synonym: "visual verbal agnosia" RELATED [MESH:D020237]
synonym: "visual verbal Agnosias" RELATED [MESH:D020237]
synonym: "without agraphia, alexia" RELATED [MESH:D020237]
synonym: "without Agraphias, alexia" RELATED [MESH:D020237]
synonym: "Word blindness, Pure" RELATED [MESH:D020237]
synonym: "Word Blindnesses, Pure" RELATED [MESH:D020237]
xref: DOID:0060156 {source="MONDO:equivalentTo"}
xref: MESH:D020237 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0000685 {source="DOID:0060156"} ! visual agnosia (disease)
property_value: exactMatch DOID:0060156
property_value: exactMatch http://identifiers.org/mesh/D020237

[Term]
id: MONDO:0000687
name: diffuse alopecia areata
def: "An alopecia areata that involves diffuse loss of hair over the whole scalp." [DOID:0060157, http://en.wikipedia.org/wiki/Alopecia_areata]
synonym: "alopecia celsi" RELATED [MESH:C531609]
synonym: "Cazenave's vitiligo" RELATED [MESH:C531609]
synonym: "Celsus' vitiligo" RELATED [MESH:C531609]
synonym: "Jonston's alopecia" RELATED [MESH:C531609]
synonym: "marginal alopecia" RELATED [MESH:C531609]
synonym: "patchy alopecia" RELATED [MESH:C531609]
xref: DOID:0060157 {source="MONDO:equivalentTo"}
xref: MESH:C531609 {source="DOID:0060157", source="MONDO:equivalentTo"}
xref: SCTID:46586006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005340 {source="DOID:0060157", source="MESH:C531609", source="MONDOLEX:0000687", source="linkedlifedata"} ! alopecia areata
property_value: closeMatch http://identifiers.org/snomedct/201138007
property_value: closeMatch http://identifiers.org/snomedct/403331000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406458
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1274706
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862862
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936778
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3179487
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3179488
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3179489
property_value: exactMatch DOID:0060157
property_value: exactMatch http://identifiers.org/mesh/C531609
property_value: exactMatch http://identifiers.org/snomedct/46586006

[Term]
id: MONDO:0000688
name: inherited organic acidemia
def: "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." [NCIT:C101334]
subset: gard_rare {source="GARD:0009433"}
subset: ordo_group_of_disorders {source="Orphanet:289899"}
synonym: "disorder of organic acid metabolism" BROAD [NCIT:C101334]
synonym: "inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn organic acid metabolic process disorder" EXACT []
synonym: "organic acid metabolism disorder" BROAD [DOID:0060159]
synonym: "organic acidemia" RELATED [DOID:0060159, GARD:0009433]
synonym: "organic aciduria" RELATED [DOID:0060159, MONDO:0017358]
synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of organic acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0060159 {source="MONDO:equivalentTo"}
xref: GARD:0009433 {source="MONDO:equivalentTo"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C101334 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.79"}
xref: Orphanet:289899 {source="MONDO:equivalentTo"}
xref: UMLS:C1263739 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C101334"}
is_a: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism
is_a: MONDO:0045022 ! disorder of organic acid metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1829844
property_value: exactMatch DOID:0060159
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263739
property_value: exactMatch NCIT:C101334
property_value: exactMatch Orphanet:289899
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia xsd:anyURI {source="GARD:0009433"}

[Term]
id: MONDO:0000689
name: obsolete survival motor neuron spinal muscular atrophy
is_obsolete: true
replaced_by: MONDO:0009669

[Term]
id: MONDO:0000690
name: body dysmorphic disorder
def: "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." [MESH:D057215]
synonym: "body dysmorphia" EXACT [DOID:0060163]
synonym: "dysmorphic syndrome" EXACT [DOID:0060163]
synonym: "dysmorphophobia" EXACT [DOID:0060163]
xref: DOID:0060163 {source="MONDO:equivalentTo"}
xref: ICD10:F45.22 {source="MONDO:equivalentTo"}
xref: MESH:D057215 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:83482000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
is_a: MONDO:0003117 {source="DOID:0060163", source="MESH:D057215", source="linkedlifedata", source="linkedlifedata/inferred"} ! somatoform disorder
property_value: exactMatch DOID:0060163
property_value: exactMatch http://identifiers.org/mesh/D057215
property_value: exactMatch http://identifiers.org/snomedct/83482000

[Term]
id: MONDO:0000691
name: obsolete pain disorder
is_obsolete: true
replaced_by: MONDO:0021668

[Term]
id: MONDO:0000692
name: obsolete Kleine-Levin syndrome
is_obsolete: true
replaced_by: MONDO:0007863

[Term]
id: MONDO:0000693
name: bipolar II disorder
def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [DOID:0060166, http://en.wikipedia.org/wiki/Bipolar_II]
synonym: "bipolar 2 disorder" RELATED []
synonym: "bipolar II disorder" EXACT []
synonym: "bipolar ll disorder" RELATED [DOID:0060166]
xref: DOID:0060166 {source="MONDO:equivalentTo"}
xref: ICD9:296.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:83225003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DOID:0060166", source="linkedlifedata"} ! bipolar disorder
property_value: exactMatch DOID:0060166
property_value: exactMatch http://identifiers.org/snomedct/83225003

[Term]
id: MONDO:0000694
name: seasonal affective disorder
def: "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence." [MESH:D016574]
synonym: "sad" BROAD [MONDO:cjm]
synonym: "SADS" BROAD [GARD:0009434]
synonym: "seasonal affective disorder" EXACT []
synonym: "winter depression" EXACT [DOID:0060167]
xref: DOID:0060167 {source="MONDO:equivalentTo"}
xref: ICD9:296.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016574 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:247803002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002050 {source="DOID:0060167", source="MESH:D016574", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! depressive disorder
property_value: exactMatch DOID:0060167
property_value: exactMatch http://identifiers.org/mesh/D016574
property_value: exactMatch http://identifiers.org/snomedct/247803002

[Term]
id: MONDO:0000695
name: obsolete histidinemia
is_obsolete: true
replaced_by: MONDO:0009345

[Term]
id: MONDO:0000696
name: obsolete juvenile absence epilepsy
is_obsolete: true
replaced_by: MONDO:0011876

[Term]
id: MONDO:0000697
name: obsolete succinic semialdehyde dehydrogenase deficiency
is_obsolete: true
replaced_by: MONDO:0010083

[Term]
id: MONDO:0000698
name: gamma-amino butyric acid metabolism disorder
def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [DOID:0060176, PMID:12891648]
xref: DOID:0060176 {source="MONDO:equivalentTo"}
is_a: MONDO:0019224 ! inborn disorder of gamma-aminobutyric acid metabolism
property_value: exactMatch DOID:0060176

[Term]
id: MONDO:0000699
name: obsolete homocarnosinosis
is_obsolete: true
replaced_by: MONDO:0009351

[Term]
id: MONDO:0000700
name: familial hemiplegic migraine
def: "A migraine disorder characterized by individual and family history of aura that includes motor weakness." [NCIT:C117009]
synonym: "FHM" EXACT [OMIM:141500]
synonym: "hemiplegic migraine, familial" RELATED [GARD:0010975]
synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [MONDO:cjm]
synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary]
xref: DOID:0060178 {source="MONDO:equivalentTo"}
xref: GARD:0010975 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:G43.8 {source="DOID:0060178"}
xref: ICD9:346.8 {source="DOID:0060178"}
xref: NCIT:C117009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:141500 {source="MONDO:equivalentTo"}
xref: SCTID:95656000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0015953 ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018925 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! familial or sporadic hemiplegic migraine
intersection_of: MONDO:0018925 ! familial or sporadic hemiplegic migraine
intersection_of: has_modifier MONDO:0021152 ! inherited
disjoint_from: MONDO:0020757 ! sporadic hemiplegic migraine
property_value: closeMatch http://identifiers.org/snomedct/193037008
property_value: closeMatch http://identifiers.org/snomedct/193040008
property_value: closeMatch http://identifiers.org/snomedct/194493009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338484
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0477373
property_value: exactMatch DOID:0060178
property_value: exactMatch http://identifiers.org/snomedct/95656000
property_value: exactMatch NCIT:C117009

[Term]
id: MONDO:0000701
name: ischemic colitis
def: "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." [MESH:D017091]
synonym: "colonic ischemia" RELATED [MONDO:cjm]
xref: DOID:0060181 {source="MONDO:equivalentTo"}
xref: ICD10:K55.9 {source="DOID:0060181"}
xref: MESH:D017091 {source="MONDO:equivalentTo", source="DOID:0060181", source="MONDO:ontobio"}
xref: SCTID:30588004 {source="MONDO:equivalentTo", source="DOID:0060181", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0162529 {source="MONDO:equivalentTo", source="DOID:0060181"}
is_a: MONDO:0005292 {source="DOID:0060181", source="MESH:D017091", source="MONDO:Redundant", source="linkedlifedata"} ! colitis (disease)
is_a: MONDO:0005385 {source="MESH:D017091"} ! vascular disease
intersection_of: MONDO:0005292 ! colitis (disease)
intersection_of: disease_arises_from_feature MONDO:0005053 ! ischemic disease
relationship: disease_arises_from_feature MONDO:0005053 ! ischemic disease
property_value: exactMatch DOID:0060181
property_value: exactMatch http://identifiers.org/mesh/D017091
property_value: exactMatch http://identifiers.org/snomedct/30588004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162529

[Term]
id: MONDO:0000702
name: microscopic colitis
def: "Inflammation of the colon that is only apparent by microscopic examination." [NCIT:P378]
xref: DOID:0060182 {source="MONDO:equivalentTo"}
xref: EFO:1001295 {source="MONDO:equivalentTo"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D046728 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060182"}
xref: NCIT:C38504 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0060182"}
xref: Orphanet:58220 {source="MONDO:equivalentTo", source="DOID:0060182"}
xref: SCTID:235753003 {source="MONDO:equivalentTo", source="DOID:0060182", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0400821 {source="MONDO:equivalentTo", source="NCIT:C38504", source="DOID:0060182"}
is_a: MONDO:0005292 {source="DOID:0060182", source="EFO:1001295", source="MESH:D046728", source="NCIT:C38504", source="linkedlifedata"} ! colitis (disease)
property_value: exactMatch DOID:0060182
property_value: exactMatch http://identifiers.org/mesh/D046728
property_value: exactMatch http://identifiers.org/snomedct/235753003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400821
property_value: exactMatch NCIT:C38504
property_value: exactMatch Orphanet:58220

[Term]
id: MONDO:0000703
name: collagenous colitis
def: "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378]
xref: DOID:0060183 {source="MONDO:equivalentTo"}
xref: EFO:1001293 {source="MONDO:equivalentTo"}
xref: GARD:0006135 {source="MONDO:equivalentTo"}
xref: ICD10:K52.831 {source="MONDO:equivalentTo"}
xref: ICD10:K52.89 {source="DOID:0060183"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048928 {source="DOID:0060183"}
xref: MESH:D046729 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060183"}
xref: NCIT:C27021 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060183"}
xref: Orphanet:36205 {source="MONDO:equivalentTo"}
xref: SCTID:19311003 {source="MONDO:equivalentTo", source="DOID:0060183", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238067 {source="NCIT:C27021", source="MONDO:equivalentTo", source="DOID:0060183"}
is_a: MONDO:0000702 {source="DOID:0060183", source="EFO:1001293", source="MESH:D046729", source="NCIT:C27021"} ! microscopic colitis
property_value: closeMatch http://identifiers.org/meddra/10048928
property_value: exactMatch DOID:0060183
property_value: exactMatch http://identifiers.org/mesh/D046729
property_value: exactMatch http://identifiers.org/snomedct/19311003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238067
property_value: exactMatch NCIT:C27021
property_value: exactMatch Orphanet:36205

[Term]
id: MONDO:0000704
name: lymphocytic colitis
def: "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378]
xref: DOID:0060184 {source="MONDO:equivalentTo"}
xref: EFO:1001294 {source="MONDO:equivalentTo"}
xref: GARD:0006939 {source="MONDO:equivalentTo"}
xref: ICD10:K52.832 {source="MONDO:equivalentTo"}
xref: ICD10:K52.89 {source="DOID:0060184"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10025268 {source="DOID:0060184"}
xref: MESH:D046730 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060184"}
xref: NCIT:C27147 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060184"}
xref: Orphanet:65279 {source="MONDO:equivalentTo", source="DOID:0060184"}
xref: SCTID:31437008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77", source="DOID:0060184"}
xref: UMLS:C0400822 {source="NCIT:C27147", source="MONDO:equivalentTo", source="DOID:0060184"}
is_a: MONDO:0000702 {source="DOID:0060184", source="EFO:1001294", source="MESH:D046730", source="NCIT:C27147"} ! microscopic colitis
property_value: closeMatch http://identifiers.org/meddra/10025268
property_value: exactMatch DOID:0060184
property_value: exactMatch http://identifiers.org/mesh/D046730
property_value: exactMatch http://identifiers.org/snomedct/31437008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400822
property_value: exactMatch NCIT:C27147
property_value: exactMatch Orphanet:65279

[Term]
id: MONDO:0000705
name: Clostridium difficile colitis
def: "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." [NCIT:C35286]
synonym: "C. diff colitis" EXACT [NCIT:C35286]
synonym: "C. diff infection" EXACT [NCIT:C35286]
synonym: "Clostridioides difficile caused colitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Clostridioides difficile colitis (disease)" EXACT []
synonym: "Clostridium difficile infection" EXACT [NCIT:C35286]
synonym: "pseudomembranous colitis" EXACT [DOID:0060185, MESH:D004761]
xref: DOID:0060185 {source="MONDO:equivalentTo"}
xref: EFO:0009130 {source="MONDO:equivalentTo"}
xref: ICD10:A04.7 {source="DOID:0060185"}
xref: MedDRA:10009657 {source="DOID:0060185"}
xref: MESH:D004761 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060185"}
xref: NCIT:C35286 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:423590009 {source="MONDO:equivalentTo", source="DOID:0060185", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005113 {source="EFO:0009130", source="MESH:D004761/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
is_a: MONDO:0006039 ! infectious colitis
property_value: closeMatch http://identifiers.org/meddra/10009657
property_value: closeMatch http://identifiers.org/snomedct/155783000
property_value: closeMatch http://identifiers.org/snomedct/197019008
property_value: closeMatch http://identifiers.org/snomedct/197033008
property_value: closeMatch http://identifiers.org/snomedct/197124009
property_value: closeMatch http://identifiers.org/snomedct/235752008
property_value: closeMatch http://identifiers.org/snomedct/266525002
property_value: closeMatch http://identifiers.org/snomedct/397683000
property_value: closeMatch http://identifiers.org/snomedct/397696004
property_value: closeMatch http://identifiers.org/snomedct/51180003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014358
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085819
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343386
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1257843
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1257844
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1257845
property_value: exactMatch DOID:0060185
property_value: exactMatch http://identifiers.org/mesh/D004761
property_value: exactMatch http://identifiers.org/snomedct/423590009
property_value: exactMatch NCIT:C35286

[Term]
id: MONDO:0000706
name: chemical colitis
def: "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." [http://en.wikipedia.org/wiki/Chemical_colitis]
xref: DOID:0060186 {source="MONDO:equivalentTo"}
xref: ICD10:K52 {source="DOID:0060186"}
xref: ICD9:558 {source="DOID:0060186"}
xref: ICD9:558.9 {source="DOID:0060186", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:72965009 {source="DOID:0060186", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005292 {source="DOID:0060186", source="MONDO:Redundant", source="linkedlifedata"} ! colitis (disease)
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029512
property_value: exactMatch DOID:0060186
property_value: exactMatch http://identifiers.org/snomedct/72965009

[Term]
id: MONDO:0000707
name: diversion colitis
def: "A colitis which can occur as a complication of ileostomy or colostomy." [http://en.wikipedia.org/wiki/Diversion_colitis]
xref: DOID:0060187 {source="MONDO:equivalentTo"}
xref: ICD10:K52 {source="DOID:0060187"}
xref: ICD9:558 {source="DOID:0060187"}
xref: ICD9:558.9 {source="DOID:0060187", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:51290000 {source="DOID:0060187", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267532 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005292 {source="DOID:0060187", source="linkedlifedata"} ! colitis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029512
property_value: exactMatch DOID:0060187
property_value: exactMatch http://identifiers.org/snomedct/51290000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267532

[Term]
id: MONDO:0000708
name: Crohn jejunoileitis
synonym: "jejunoileitis" RELATED [DOID:0060188]
xref: DOID:0060188 {source="MONDO:equivalentTo"}
xref: ICD10:K50.0 {source="DOID:0060188"}
is_a: MONDO:0000709 ! Crohn ileitis
is_a: MONDO:0021207 ! Crohn jejunitis
property_value: exactMatch DOID:0060188

[Term]
id: MONDO:0000709
name: Crohn ileitis
def: "An Crohn disease involving a pathogenic inflammatory response in the ileum." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "Crohn's ileitis" EXACT [DOID:0060189]
synonym: "ileitis" RELATED [DOID:0060189]
xref: CSP:1248-5305 {source="DOID:0060189"}
xref: DOID:0060189 {source="MONDO:equivalentTo"}
xref: ICD10:K52.9 {source="DOID:0060189"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10021312 {source="DOID:0060189"}
xref: MESH:D007079 {source="DOID:0060189", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35329 {source="MONDO:equivalentTo"}
xref: NDFRT:N0000001662 {source="DOID:0060189"}
xref: SCTID:52457000 {source="DOID:0060189", source="MONDO:kboom-pr-0.92/0.66/1.65", source="MONDO:equivalentTo"}
xref: UMLS:C0020877 {source="DOID:0060189", source="MONDO:equivalentTo"}
is_a: MONDO:0005539 ! small bowel Crohn disease
property_value: closeMatch http://identifiers.org/meddra/10021312
property_value: closeMatch NCIT:C84782
property_value: exactMatch DOID:0060189
property_value: exactMatch http://identifiers.org/mesh/D007079
property_value: exactMatch http://identifiers.org/snomedct/52457000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020877
property_value: exactMatch NCIT:C35329

[Term]
id: MONDO:0000710
name: gastroduodenal Crohn disease
def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite." [DOID:0060191, http://en.wikipedia.org/wiki/Crohn%27s_disease, http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, PMID:12769447]
synonym: "gastroduodenal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "upper GI Crohn's disease" EXACT [DOID:0060191]
xref: DOID:0060191 {source="MONDO:equivalentTo"}
xref: ICD10:K50.0 {source="DOID:0060191"}
is_a: MONDO:0004627 ! duodenitis
is_a: MONDO:0004966 ! gastritis (disease)
is_a: MONDO:0005539 ! small bowel Crohn disease
property_value: exactMatch DOID:0060191

[Term]
id: MONDO:0000711
name: obsolete amyotrophic lateral sclerosis type 13
is_obsolete: true
replaced_by: MONDO:0008458

[Term]
id: MONDO:0000712
name: FTDALS
def: "frontotemporal dementia plus amyotrophic lateral sclerosis." [PMID:21222600]
synonym: "frontotemporal dementia with ALS" EXACT []
synonym: "FTD-ALS" RELATED [PMID:21222600]
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 ! frontotemporal dementia with motor neuron disease
intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis
intersection_of: MONDO:0017161 ! frontotemporal dementia with motor neuron disease

[Term]
id: MONDO:0000713
name: obsolete Balo concentric sclerosis
is_obsolete: true
replaced_by: MONDO:0016430

[Term]
id: MONDO:0000714
name: obsolete crest syndrome
is_obsolete: true
replaced_by: MONDO:0019563

[Term]
id: MONDO:0000715
name: lymph node adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the lymph node." [MONDO:patterns/location]
synonym: "lymph node adenoid cystic cancer" RELATED [DOID:0060219]
synonym: "lymph node adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0060219 {source="MONDO:equivalentTo"}
is_a: MONDO:0001082 {source="DOID:0060219", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymph node cancer
is_a: MONDO:0004971 ! adenoid cystic carcinoma
property_value: exactMatch DOID:0060219

[Term]
id: MONDO:0000716
name: agraphia
def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [DOID:0060223, http://en.wikipedia.org/wiki/Agraphia, PMID:21507544]
xref: DOID:0060223 {source="MONDO:equivalentTo"}
xref: ICD10:R48.8 {source="DOID:0060223"}
is_a: MONDO:0000599 {source="DOID:0060223"} ! writing disorder
property_value: exactMatch DOID:0060223

[Term]
id: MONDO:0000717
name: obsolete acrofrontofacionasal dysostosis
is_obsolete: true
replaced_by: MONDO:0008715

[Term]
id: MONDO:0000718
name: obsolete Adams-Oliver syndrome
is_obsolete: true
replaced_by: MONDO:0007034

[Term]
id: MONDO:0000719
name: obsolete Baraitser-winter syndrome
is_obsolete: true
replaced_by: MONDO:0017579

[Term]
id: MONDO:0000720
name: obsolete basal ganglia calcification
is_obsolete: true
replaced_by: MONDO:0008947

[Term]
id: MONDO:0000721
name: xanthinuria
def: "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria]
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:278300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:190919008 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/190919008

[Term]
id: MONDO:0000722
name: non-syndromic synpolydactyly
def: "A synpolydactyly that is not part of a larger syndrome." [MONDO:patterns/isolated]
synonym: "isolated synpolydactyly" EXACT []
synonym: "nonsyndromic synpolydactyly" EXACT [MONDO:patterns/isolated]
synonym: "syndactyly type 2" RELATED EXCLUDE [DOID:0060242]
synonym: "synpolydactyly" RELATED [DOID:0060242]
xref: DOID:0060242 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 ! non-syndromic polydactyly
is_a: MONDO:0019530 {source="DOID:0060242"} ! non-syndromic syndactyly
is_a: MONDO:0021651 ! synpolydactyly
intersection_of: MONDO:0021651 ! synpolydactyly
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch DOID:0060242

[Term]
id: MONDO:0000723
name: stutter disorder
def: "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." [NCIT:C35043]
comment: Editor note: check this; consider subclass for familial
synonym: "familial persistent stuttering" NARROW [DOID:0060243]
synonym: "stammering" EXACT [DOID:0060243]
synonym: "stutter" EXACT [NCIT:C35043]
synonym: "stuttering" EXACT [DOID:0060243]
synonym: "stuttering, familial persistent" NARROW [OMIMPS:184450]
xref: DOID:0060243 {source="MONDO:equivalentTo"}
xref: ICD10:F80.81 {source="DOID:0060243"}
xref: NCIT:C35043 {source="DOID:0060243", source="MONDO:equivalentTo"}
xref: OMIMPS:184450 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0004730 {source="DOID:0060243/inferred"} ! speech disorder
is_a: MONDO:0004750 {source="MONDO:Redundant", source="NCIT:C35043"} ! language disorder
relationship: excluded_subClassOf MONDO:0002903 {source="DOID:0060243"} ! articulation disorder
property_value: closeMatch http://identifiers.org/mesh/D013342
property_value: closeMatch http://identifiers.org/snomedct/154935003
property_value: closeMatch http://identifiers.org/snomedct/191987007
property_value: closeMatch http://identifiers.org/snomedct/192632007
property_value: closeMatch http://identifiers.org/snomedct/229631007
property_value: closeMatch http://identifiers.org/snomedct/231512003
property_value: closeMatch http://identifiers.org/snomedct/231513008
property_value: closeMatch http://identifiers.org/snomedct/29916003
property_value: closeMatch http://identifiers.org/snomedct/39423001
property_value: closeMatch http://identifiers.org/snomedct/416163003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038131
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038506
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0454542
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751527
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751528
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489627
property_value: exactMatch DOID:0060243
property_value: exactMatch NCIT:C35043

[Term]
id: MONDO:0000724
name: specific language impairment
def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." [DOID:0060244, http://en.wikipedia.org/wiki/Specific_language_impairment, PMID:19646677]
synonym: "language impairment (disease)" EXACT []
xref: DOID:0060244 {source="MONDO:equivalentTo"}
xref: OMIMPS:606711 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:C0454651 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004750 {source="DOID:0060244"} ! language disorder
property_value: exactMatch DOID:0060244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0454651

[Term]
id: MONDO:0000725
name: obsolete Simpson-Golabi-Behmel syndrome
is_obsolete: true
replaced_by: MONDO:0010731

[Term]
id: MONDO:0000726
name: idiopathic scoliosis
def: "A scoliosis with no known cause." [DOID:0060250, http://en.wikipedia.org/wiki/Scoliosis]
xref: DOID:0060250 {source="MONDO:equivalentTo"}
xref: SCTID:203639008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN241052 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005392 {source="DOID:0060250", source="linkedlifedata"} ! scoliosis
property_value: exactMatch DOID:0060250
property_value: exactMatch http://identifiers.org/snomedct/203639008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN241052

[Term]
id: MONDO:0000727
name: scapuloperoneal myopathy
def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." [DOID:0060253, PMID:28179901]
synonym: "myopathy, scapuloperoneal" RELATED [MESH:C536624]
synonym: "scapuloperoneal syndrome, myopathic type" RELATED [MESH:C536624]
xref: DOID:0060253 {source="MONDO:equivalentTo"}
xref: MESH:C536624 {source="MONDO:equivalentTo"}
xref: UMLS:C2931268 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016830 {source="MESH:C536624"} ! Emery-Dreifuss muscular dystrophy
property_value: exactMatch DOID:0060253
property_value: exactMatch http://identifiers.org/mesh/C536624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931268

[Term]
id: MONDO:0000728
name: ptosis (disease)
def: "The drooping of the upper eyelid." [NCIT:P378]
synonym: "blepharoptosis" EXACT [DOID:0060260]
synonym: "drooping eyelid" EXACT [DOID:0060260]
synonym: "eyelid ptosis" EXACT [NCIT:C27298]
synonym: "ptosis" EXACT [MONDO:ambiguous]
xref: DOID:0060260 {source="MONDO:equivalentTo"}
xref: HP:0000508 {source="MONDO:otherHierarchy", source="DOID:0060260", source="ontobio"}
xref: ICD10:H02.4 {source="DOID:0060260"}
xref: ICD10:H02.40 {source="DOID:0060260"}
xref: ICD10:H02.409 {source="DOID:0060260"}
xref: ICD9:374.3 {source="DOID:0060260"}
xref: ICD9:374.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060260"}
xref: MESH:D001763 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060260"}
xref: NCIT:C27298 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060260"}
xref: SCTID:11934000 {source="MONDO:kboom-pr-0.99/0.73/5.47", source="MONDO:equivalentTo", source="DOID:0060260"}
xref: UMLS:C0005745 {source="NCIT:C27298", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="DOID:0060260"}
xref: UMLS:C0033377 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005328 {source="DOID:0060260", source="MESH:D001763/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155179008
property_value: closeMatch http://identifiers.org/snomedct/193942002
property_value: closeMatch http://identifiers.org/snomedct/193943007
property_value: closeMatch http://identifiers.org/snomedct/193945000
property_value: closeMatch http://identifiers.org/snomedct/204197004
property_value: exactMatch DOID:0060260
property_value: exactMatch http://identifiers.org/mesh/D001763
property_value: exactMatch http://identifiers.org/snomedct/11934000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033377
property_value: exactMatch NCIT:C27298

[Term]
id: MONDO:0000729
name: obsolete congenital ptosis
is_obsolete: true
replaced_by: MONDO:0008340

[Term]
id: MONDO:0000730
name: obsolete pontocerebellar hypoplasia
is_obsolete: true
replaced_by: MONDO:0020135

[Term]
id: MONDO:0000731
name: obsolete peeling skin syndrome
is_obsolete: true
replaced_by: MONDO:0019347

[Term]
id: MONDO:0000732
name: combined oxidative phosphorylation deficiency
def: "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." [MONDO:cjm]
subset: gard_rare {source="GARD:0012893"}
xref: DOID:0060286 {source="MONDO:equivalentTo"}
xref: GARD:0012893 {source="MONDO:equivalentTo"}
xref: OMIMPS:609060 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0016387 {source="MONDO:cjm"} ! mitochondrial oxidative phosphorylation disorder
property_value: exactMatch DOID:0060286
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency xsd:anyURI {source="GARD:0012893"}

[Term]
id: MONDO:0000733
name: cornea plana
synonym: "flat cornea" EXACT [DOID:0060287]
xref: DOID:0060287 {source="MONDO:equivalentTo"}
xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"}
xref: ICD10:Q13.4 {source="DOID:0060287"}
xref: OMIMPS:121400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:204145006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000942 {source="DOID:0060287", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
property_value: exactMatch DOID:0060287
property_value: exactMatch http://identifiers.org/snomedct/204145006

[Term]
id: MONDO:0000734
name: Ohdo syndrome and variants
synonym: "Ohdo blepharophimosis syndrome" NARROW [DOID:0060289]
synonym: "Ohdo syndrome" RELATED [DOID:0060289]
xref: DOID:0060289 {source="MONDO:equivalentTo"}
is_a: MONDO:0017393 {source="MONDO:cjm"} ! blepharophimosis - intellectual disability syndrome
property_value: closeMatch http://identifiers.org/mesh/C536232
property_value: exactMatch DOID:0060289

[Term]
id: MONDO:0000735
name: obsolete oculodentodigital dysplasia
is_obsolete: true
replaced_by: MONDO:0008111

[Term]
id: MONDO:0000736
name: dyschromatosis universalis hereditaria
def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [DOID:0060304, http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, PMID:12372090]
subset: gard_rare {source="GARD:0001996"}
subset: ordo_disease {source="Orphanet:241"}
synonym: "DUH" RELATED [GARD:0001996]
synonym: "dyschromatosis universalis" EXACT [MONDO:0007484]
xref: DOID:0060304 {source="MONDO:equivalentTo"}
xref: GARD:0001996 {source="MONDO:equivalentTo"}
xref: ICD10:L81.8 {source="ORDO:241/attributed", source="ORDO:241/ntbt", source="Orphanet:241"}
xref: MESH:C535730 {source="MONDO:equivalentTo", source="DOID:0060304", source="MONDO:ontobio"}
xref: OMIMPS:127500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:241 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:127500", source="DOID:0060304"}
xref: SCTID:239082002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1306229 {source="MONDO:equivalentTo", source="ORDO:241/e", source="Orphanet:241"}
xref: UMLS:C2930995 {source="MONDO:equivalentTo", source="DOID:0060304"}
is_a: MONDO:0019289 {source="Orphanet:241", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
property_value: exactMatch DOID:0060304
property_value: exactMatch http://identifiers.org/mesh/C535730
property_value: exactMatch http://identifiers.org/snomedct/239082002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930995
property_value: exactMatch Orphanet:241
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria xsd:anyURI {source="GARD:0001996"}

[Term]
id: MONDO:0000737
name: obsolete megalocornea
is_obsolete: true
replaced_by: MONDO:0009576

[Term]
id: MONDO:0000738
name: obsolete syndromic X-linked intellectual disability
is_obsolete: true
replaced_by: MONDO:0020119

[Term]
id: MONDO:0000739
name: uvulitis
def: "Inflammation of the uvula." [NCIT:C128385]
synonym: "acute uvulitis" NARROW [DOID:0060310]
synonym: "inflammation of palatine uvula" EXACT []
synonym: "palatine uvula inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:0060310 {source="MONDO:equivalentTo"}
xref: ICD10:K12.2 {source="DOID:0060310"}
xref: ICD9:528.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051962 {source="DOID:0060310"}
xref: NCIT:C128385 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:300932000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0042174 {source="NCIT:C128385", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004867 {source="DOID:0060310", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C128385/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/meddra/10051962
property_value: exactMatch DOID:0060310
property_value: exactMatch http://identifiers.org/snomedct/300932000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042174
property_value: exactMatch NCIT:C128385

[Term]
id: MONDO:0000740
name: adenoid hypertrophy
def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing." [DOID:0060311, http://en.wikipedia.org/wiki/Adenoid_hypertrophy, http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html, http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm, PMID:21126775]
synonym: "adenoidal hypertrophy" EXACT [DOID:0060311]
synonym: "enlarged adenoids" EXACT [DOID:0060311]
xref: DOID:0060311 {source="MONDO:equivalentTo"}
xref: ICD10:J35.2 {source="DOID:0060311"}
xref: ICD9:474.12 {source="DOID:0060311", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10001229 {source="DOID:0060311"}
xref: SCTID:111591002 {source="MONDO:kboom-pr-1.00/0.75/6.62", source="DOID:0060311", source="MONDO:equivalentTo"}
xref: UMLS:C0149825 {source="DOID:0060311", source="MONDO:equivalentTo"}
is_a: MONDO:0004867 {source="DOID:0060311", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/meddra/10001229
property_value: closeMatch http://identifiers.org/snomedct/195795005
property_value: exactMatch DOID:0060311
property_value: exactMatch http://identifiers.org/snomedct/111591002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149825

[Term]
id: MONDO:0000741
name: angular cheilitis
def: "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." [NCIT:C112198]
synonym: "angle of oral opening cheilitis" EXACT [MONDO:patterns/location]
synonym: "angular cheilitis" EXACT [NCIT:C112198]
synonym: "angular cheilosis" EXACT [DOID:0060312]
synonym: "angular stomatitis" EXACT [DOID:0060312]
synonym: "cheilitis of angle of oral opening" EXACT [MONDO:design_pattern]
synonym: "cheilosis" RELATED [DOID:0060312, NCIT:C112198]
synonym: "commissural cheilitis" EXACT [DOID:0060312]
synonym: "perleche" EXACT [NCIT:C112198]
synonym: "perlèche" EXACT [NCIT:C112198]
xref: DOID:0060312 {source="MONDO:equivalentTo"}
xref: ICD10:K13.0 {source="DOID:0060312"}
xref: NCIT:C112198 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:16459000 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0221237 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="NCIT:C112198"}
xref: UMLS:C0221264 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002102 {source="DOID:0060312", source="MONDO:Redundant", source="NCIT:C112198"} ! cheilitis
property_value: closeMatch http://identifiers.org/snomedct/155664000
property_value: closeMatch http://identifiers.org/snomedct/196557006
property_value: closeMatch http://identifiers.org/snomedct/266495008
property_value: exactMatch DOID:0060312
property_value: exactMatch http://identifiers.org/snomedct/16459000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221264
property_value: exactMatch NCIT:C112198

[Term]
id: MONDO:0000742
name: obsolete persistent generalized lymphadenopathy
synonym: "PGL" EXACT [DOID:0060314]
xref: DOID:0060314 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:95892003 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:0060314
property_value: exactMatch http://identifiers.org/snomedct/95892003
is_obsolete: true
replaced_by: HP:0008940

[Term]
id: MONDO:0000743
name: oral hairy leukoplakia
def: "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." [NCIT:P378]
synonym: "hairy leukoplakia" RELATED [DOID:0060315]
synonym: "hairy leukoplakia of mouth" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of oral mucosa" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of the mouth" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of the oral mucosa" EXACT [NCIT:C3722]
synonym: "mouth hairy leukoplakia" EXACT [NCIT:C3722]
synonym: "oral cavity hairy leukoplakia" EXACT [NCIT:C3722]
synonym: "oral hairy keratosis" EXACT [NCIT:C3722]
xref: DOID:0060315 {source="MONDO:equivalentTo"}
xref: ICD10:K13.3 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: ICD9:528.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017733 {source="MONDO:equivalentTo", source="DOID:0060315", source="MONDO:ontobio"}
xref: NCIT:C3722 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: SCTID:414952002 {source="MONDO:equivalentTo", source="DOID:0060315", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0206186 {source="MONDO:equivalentTo", source="DOID:0060315"}
is_a: MONDO:0006858 {source="DOID:0060315", source="MESH:D017733/inferred", source="NCIT:C3722/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0021674 ! post-viral disorder
relationship: disease_arises_from_feature MONDO:0012268 ! AIDS
property_value: closeMatch http://identifiers.org/snomedct/196569003
property_value: closeMatch http://identifiers.org/snomedct/58918007
property_value: exactMatch DOID:0060315
property_value: exactMatch http://identifiers.org/mesh/D017733
property_value: exactMatch http://identifiers.org/snomedct/414952002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206186
property_value: exactMatch NCIT:C3722

[Term]
id: MONDO:0000744
name: lung abscess (disease)
def: "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." [NCIT:P378]
synonym: "lung abscess" EXACT [MONDO:ambiguous]
xref: COHD:257010 {source="MONDO:equivalentTo"}
xref: DOID:0060317 {source="MONDO:equivalentTo"}
xref: EFO:1001362 {source="MONDO:equivalentTo"}
xref: HP:0025044 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J85.2 {source="DOID:0060317"}
xref: ICD9:513.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060317"}
xref: MESH:D008169 {source="MONDO:equivalentTo", source="DOID:0060317", source="MONDO:ontobio"}
xref: NCIT:C99090 {source="MONDO:equivalentTo", source="DOID:0060317", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:73452002 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo", source="DOID:0060317"}
xref: UMLS:C0024110 {source="MONDO:equivalentTo", source="DOID:0060317", source="NCIT:C99090"}
is_a: MONDO:0005227 {source="EFO:1001362", source="MESH:D008169", source="NCIT:C99090", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess
is_a: MONDO:0005275 {source="DOID:0060317", source="MESH:D008169", source="NCIT:C99090/inferred", source="linkedlifedata"} ! lung disease
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: closeMatch http://identifiers.org/snomedct/155618005
property_value: closeMatch http://identifiers.org/snomedct/196113000
property_value: exactMatch DOID:0060317
property_value: exactMatch http://identifiers.org/mesh/D008169
property_value: exactMatch http://identifiers.org/snomedct/73452002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024110
property_value: exactMatch NCIT:C99090

[Term]
id: MONDO:0000745
name: cardiac arrest
def: "Cessation of breathing and/or cardiac function." [NCIT:P378]
synonym: "cardiopulmonary arrest" EXACT [DOID:0060319]
synonym: "circulatory arrest" EXACT [DOID:0060319]
xref: COHD:321042 {source="MONDO:equivalentTo"}
xref: DOID:0060319 {source="MONDO:equivalentTo"}
xref: ICD10:I46 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: ICD9:427.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060319"}
xref: MESH:D006323 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060319"}
xref: SCTID:410429000 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: UMLS:C0018790 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: UMLS:C0444720 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007263 {source="linkedlifedata"} ! cardiac rhythm disease
relationship: excluded_subClassOf MONDO:0005009 {source="DOID:0060319"} ! congestive heart failure
property_value: closeMatch http://identifiers.org/snomedct/155372006
property_value: closeMatch http://identifiers.org/snomedct/195085006
property_value: closeMatch http://identifiers.org/snomedct/195090009
property_value: closeMatch http://identifiers.org/snomedct/233926006
property_value: closeMatch http://identifiers.org/snomedct/251189000
property_value: closeMatch http://identifiers.org/snomedct/30298009
property_value: closeMatch http://identifiers.org/snomedct/309810002
property_value: closeMatch http://identifiers.org/snomedct/397829000
property_value: closeMatch http://identifiers.org/snomedct/397912004
property_value: closeMatch http://identifiers.org/snomedct/410430005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0600228
property_value: exactMatch DOID:0060319
property_value: exactMatch http://identifiers.org/mesh/D006323
property_value: exactMatch http://identifiers.org/snomedct/410429000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0444720
property_value: exactMatch NCIT:C50479
property_value: exactMatch NCIT:C50483

[Term]
id: MONDO:0000746
name: obsolete inguinal hernia
def: "The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." [NCIT:C34690]
comment: Represents finding.
xref: COHD:4288544 {source="MONDO:equivalentTo"}
xref: DOID:0060320 {source="MONDO:equivalentTo"}
xref: HP:0000023 {source="DOID:0060320", source="MONDO:equivalentObsolete", source="MONDO:otherHierarchy"}
xref: ICD10:K40 {source="DOID:0060320"}
xref: ICD10:K40.90 {source="DOID:0060320"}
xref: ICD9:550 {source="DOID:0060320"}
xref: ICD9:550.90 {source="MONDO:equivalentObsolete", source="i2s"}
xref: MESH:D006552 {source="DOID:0060320", source="MONDO:equivalentObsolete", source="MONDO:ontobio"}
xref: NCIT:C34690 {source="DOID:0060320", source="MONDO:equivalentObsolete", source="exact-label-match"}
xref: SCTID:396232000 {source="DOID:0060320", source="MONDO:equivalentObsolete", source="MONDO:kboom-pr-1.00/0.91/29.66"}
property_value: closeMatch http://identifiers.org/snomedct/155738001
property_value: closeMatch http://identifiers.org/snomedct/155741005
property_value: closeMatch http://identifiers.org/snomedct/155744002
property_value: closeMatch http://identifiers.org/snomedct/196800008
property_value: closeMatch http://identifiers.org/snomedct/196822001
property_value: closeMatch http://identifiers.org/snomedct/196827007
property_value: closeMatch http://identifiers.org/snomedct/196828002
property_value: closeMatch http://identifiers.org/snomedct/261478001
property_value: closeMatch http://identifiers.org/snomedct/261480007
property_value: closeMatch http://identifiers.org/snomedct/266440002
property_value: closeMatch http://identifiers.org/snomedct/266508004
property_value: closeMatch http://identifiers.org/snomedct/266509007
property_value: closeMatch http://identifiers.org/snomedct/266510002
property_value: closeMatch http://identifiers.org/snomedct/286968003
property_value: closeMatch http://identifiers.org/snomedct/286969006
property_value: closeMatch http://identifiers.org/snomedct/44297005
property_value: closeMatch http://identifiers.org/snomedct/65626001
property_value: closeMatch http://identifiers.org/snomedct/73147001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019294
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019295
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019296
property_value: closeMatch NCIT:C34691
property_value: closeMatch NCIT:C34692
property_value: exactMatch DOID:0060320
property_value: exactMatch http://identifiers.org/mesh/D006552
property_value: exactMatch http://identifiers.org/snomedct/396232000
property_value: exactMatch NCIT:C34690
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1777 xsd:string
is_obsolete: true
consider: HP:0000023

[Term]
id: MONDO:0000747
name: obsolete umbilical hernia
def: "A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." [NCIT:P378]
comment: Represents finding.
xref: COHD:4245842 {source="MONDO:equivalentObsolete"}
xref: DOID:0060321 {source="MONDO:equivalentObsolete"}
xref: HP:0001537 {source="DOID:0060321", source="MONDO:otherHierarchy"}
xref: ICD10:Q79.2 {source="DOID:0060321"}
xref: ICD9:553.1 {source="MONDO:equivalentObsolete", source="i2s"}
xref: ICD9:756.72 {source="DOID:0060321"}
xref: MESH:D006554 {source="DOID:0060321", source="MONDO:equivalentObsolete"}
xref: NCIT:C118375 {source="MONDO:equivalentObsolete", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:396347007 {source="DOID:0060321", source="MONDO:equivalentObsolete", source="MONDO:kboom-pr-1.00/0.91/27.51"}
xref: UMLS:C0019322 {source="NCIT:C118375", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentObsolete"}
property_value: closeMatch http://identifiers.org/snomedct/157007005
property_value: closeMatch http://identifiers.org/snomedct/196854005
property_value: closeMatch http://identifiers.org/snomedct/196872004
property_value: closeMatch http://identifiers.org/snomedct/205516007
property_value: closeMatch http://identifiers.org/snomedct/271017007
property_value: closeMatch http://identifiers.org/snomedct/49324006
property_value: closeMatch http://identifiers.org/snomedct/5867007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306503
property_value: exactMatch DOID:0060321
property_value: exactMatch http://identifiers.org/mesh/D006554
property_value: exactMatch http://identifiers.org/snomedct/396347007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019322
property_value: exactMatch NCIT:C118375
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1777 xsd:string
is_obsolete: true
consider: HP:0001537

[Term]
id: MONDO:0000748
name: mastoiditis (disease)
def: "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." [NCIT:C128368]
synonym: "inflammation of mastoid process of temporal bone" EXACT []
synonym: "mastoid process of temporal bone inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mastoid process of temporal boneitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mastoiditis" EXACT [MONDO:ambiguous]
xref: COHD:374655 {source="MONDO:equivalentTo"}
xref: DOID:0060322 {source="MONDO:equivalentTo"}
xref: HP:0000265 {source="DOID:0060322", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H70.9 {source="DOID:0060322"}
xref: ICD10:H70.90 {source="DOID:0060322"}
xref: ICD9:383.9 {source="DOID:0060322", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008417 {source="DOID:0060322", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128368 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:52404001 {source="DOID:0060322", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0024904 {source="DOID:0060322", source="MONDO:equivalentTo", source="NCIT:C128368"}
is_a: MONDO:0002614 {source="DOID:0060322", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C128368", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155230007
property_value: closeMatch http://identifiers.org/snomedct/194309002
property_value: exactMatch DOID:0060322
property_value: exactMatch http://identifiers.org/mesh/D008417
property_value: exactMatch http://identifiers.org/snomedct/52404001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024904
property_value: exactMatch NCIT:C128368

[Term]
id: MONDO:0000749
name: breast abscess
def: "A breast disease characterized by a collection of pus in the breast." [DOID:0060323, http://en.wikipedia.org/wiki/Mastitis#Breast_abscess]
xref: DOID:0060323 {source="MONDO:equivalentTo"}
xref: SCTID:28432003 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C0151463 {source="MONDO:equivalentTo"}
is_a: MONDO:0002657 {source="DOID:0060323", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast disease
property_value: exactMatch DOID:0060323
property_value: exactMatch http://identifiers.org/snomedct/28432003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151463

[Term]
id: MONDO:0000750
name: dental abscess
def: "A tooth disease characterized by a localized collection of pus associated with a tooth." [DOID:0060324, http://en.wikipedia.org/wiki/Dental_abscess]
xref: DOID:0060324 {source="MONDO:equivalentTo"}
xref: ICD10:K04.6 {source="DOID:0060324"}
xref: SCTID:299709002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0518988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006999 {source="DOID:0060324", source="linkedlifedata"} ! tooth disease
property_value: exactMatch DOID:0060324
property_value: exactMatch http://identifiers.org/snomedct/299709002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0518988

[Term]
id: MONDO:0000751
name: cervical polyp (disease)
def: "A polyp that arises from the surface of the cervix." [NCIT:P378]
synonym: "adenomatous polyp of cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of the cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of the uterine cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of uterine cervix" EXACT [NCIT:C2939]
synonym: "cervical polyp" EXACT [MONDO:ambiguous, NCIT:C2939]
synonym: "cervix adenomatous polyp" EXACT [NCIT:C2939]
synonym: "cervix polyp" EXACT [NCIT:C2939]
synonym: "cervix uteri adenomatous polyp" EXACT [NCIT:C2939]
synonym: "cervix uteri polyp" EXACT [NCIT:C2939]
synonym: "polyp of cervix" EXACT [NCIT:C2939]
synonym: "polyp of cervix uteri" EXACT [NCIT:C2939]
synonym: "polyp of the cervix" EXACT [NCIT:C2939]
synonym: "polyp of the cervix uteri" EXACT [NCIT:C2939]
synonym: "polyp of the uterine cervix" EXACT [NCIT:C2939]
synonym: "polyp of uterine cervix" EXACT [NCIT:C2939]
synonym: "uterine cervix adenomatous polyp" EXACT [NCIT:C2939]
synonym: "uterine cervix polyp" EXACT [MONDO:patterns/location, NCIT:C2939]
xref: COHD:4280498 {source="MONDO:equivalentTo"}
xref: DOID:0060325 {source="MONDO:equivalentTo"}
xref: HP:0030159 {source="DOID:0060325", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D26 {source="DOID:0060325"}
xref: ICD10:D26.9 {source="DOID:0060325"}
xref: ICD9:219 {source="DOID:0060325"}
xref: NCIT:C2939 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:65576009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.65"}
xref: UMLS:C0007855 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C2939", source="MONDO:equivalentTo"}
xref: UMLS:C0347493 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002256 {source="DOID:0060325", source="MONDO:Redundant", source="NCIT:C2939", source="linkedlifedata"} ! cervix disease
is_a: MONDO:0004701 {source="MONDO:Redundant", source="NCIT:C2939"} ! uterine polyp
property_value: closeMatch http://identifiers.org/snomedct/154628008
property_value: closeMatch http://identifiers.org/snomedct/189107007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153996
property_value: exactMatch DOID:0060325
property_value: exactMatch http://identifiers.org/snomedct/65576009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347493
property_value: exactMatch NCIT:C2939

[Term]
id: MONDO:0000752
name: obsolete myelomeningocele
is_obsolete: true
replaced_by: MONDO:0019773

[Term]
id: MONDO:0000753
name: obsolete omphalocele
is_obsolete: true
replaced_by: MONDO:0019015

[Term]
id: MONDO:0000754
name: anal fistula (disease)
def: "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." [NCIT:C60785]
synonym: "anal fistula" EXACT [MONDO:ambiguous]
synonym: "anorectal fistula" EXACT [NCIT:C60785]
xref: DOID:0060328 {source="MONDO:equivalentTo"}
xref: HP:0010447 {source="MONDO:otherHierarchy", source="DOID:0060328", source="ontobio"}
xref: ICD10:K60.3 {source="MONDO:equivalentTo", source="DOID:0060328"}
xref: MESH:D012003 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C60785 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:72779005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001593 {source="DOID:0060328", source="MESH:D012003"} ! rectal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149889
property_value: exactMatch DOID:0060328
property_value: exactMatch http://identifiers.org/mesh/D012003
property_value: exactMatch http://identifiers.org/snomedct/72779005
property_value: exactMatch NCIT:C60785

[Term]
id: MONDO:0000755
name: ectopic pregnancy
def: "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." [NCIT:P378]
subset: gard_rare {source="GARD:0006318"}
synonym: "eccyesis" EXACT [DOID:0060329]
synonym: "extrauterine pregnancy" EXACT [NCIT:C34945]
synonym: "pregnancy, ectopic" EXACT [NCIT:C34945]
xref: DOID:0060329 {source="MONDO:equivalentTo"}
xref: GARD:0006318 {source="MONDO:equivalentTo"}
xref: ICD10:O00 {source="DOID:0060329"}
xref: ICD10:O00.9 {source="DOID:0060329"}
xref: ICD9:633 {source="DOID:0060329"}
xref: ICD9:633.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:633.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060329"}
xref: ICD9:633.90 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011271 {source="MONDO:equivalentTo", source="DOID:0060329", source="MONDO:ontobio"}
xref: NCIT:C34945 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:0060329"}
xref: SCTID:34801009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:0060329"}
is_a: MONDO:0002263 {source="DOID:0060329", source="NCIT:C34945/inferred"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/156080003
property_value: closeMatch http://identifiers.org/snomedct/156083001
property_value: closeMatch http://identifiers.org/snomedct/198630007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032987
property_value: exactMatch DOID:0060329
property_value: exactMatch http://identifiers.org/mesh/D011271
property_value: exactMatch http://identifiers.org/snomedct/34801009
property_value: exactMatch NCIT:C34945
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy xsd:anyURI {source="GARD:0006318"}

[Term]
id: MONDO:0000756
name: parameningeal embryonal rhabdomyosarcoma
def: "An embryonal rhabdomyosarcoma located in the parameningeal region." [DOID:0060338, PMID:10717216, PMID:23021437]
comment: Editor note: check subclasses, does not appear to be complete
xref: DOID:0060338 {source="MONDO:equivalentTo"}
is_a: MONDO:0009993 {source="DOID:0060338", source="MONDOLEX:0000756"} ! embryonal rhabdomyosarcoma (disease)
property_value: exactMatch DOID:0060338

[Term]
id: MONDO:0000757
name: glucocorticoid-induced osteoporosis
def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." [DOID:0060343, PMID:17566815, PMID:22870429]
synonym: "steroid-induced osteoporosis" RELATED [DOID:0060343]
xref: DOID:0060343 {source="MONDO:equivalentTo"}
is_a: MONDO:0024651 ! corticosteroid-induced osteoporosis
property_value: exactMatch DOID:0060343

[Term]
id: MONDO:0000758
name: bacillary angiomatosis
def: "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals." [NCIT:C3477]
synonym: "angiomatoses, bacillary" RELATED [MESH:D016917]
synonym: "angiomatoses, bacillary epithelioid" RELATED [MESH:D016917]
synonym: "angiomatoses, epithelioid" RELATED [MESH:D016917]
synonym: "angiomatosis, bacillary epithelioid" RELATED [MESH:D016917]
synonym: "angiomatosis, epithelioid" RELATED [MESH:D016917]
synonym: "bacillary Angiomatoses" RELATED [MESH:D016917]
synonym: "bacillary angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "bacillary epithelioid Angiomatoses" RELATED [MESH:D016917]
synonym: "bacillary epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "Bartonella angiomatosis" EXACT []
synonym: "Bartonella caused angiomatosis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "epithelioid Angiomatoses" RELATED [MESH:D016917]
synonym: "epithelioid Angiomatoses, bacillary" RELATED [MESH:D016917]
synonym: "epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "epithelioid angiomatosis, bacillary" RELATED [MESH:D016917]
xref: DOID:0060345 {source="MONDO:equivalentTo"}
xref: ICD9:083.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016917 {source="DOID:0060345", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3477 {source="DOID:0060345", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:58213005 {source="DOID:0060345", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085434 {source="DOID:0060345", source="MONDO:equivalentTo", source="NCIT:C3477"}
is_a: MONDO:0005664 {source="DOID:0060345", source="MESH:D016917", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis
is_a: MONDO:0021440 ! benign neoplasm of skin
is_a: MONDO:0024295 {source="MESH:D016917"} ! skin disease caused by bacterial infection
is_a: MONDO:0024461 {source="MESH:D016917", source="MONDO:Redundant", source="NCIT:C3477", source="linkedlifedata"} ! angiomatosis
property_value: exactMatch DOID:0060345
property_value: exactMatch http://identifiers.org/mesh/D016917
property_value: exactMatch http://identifiers.org/snomedct/58213005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085434
property_value: exactMatch NCIT:C3477

[Term]
id: MONDO:0000759
name: obsolete acrorenal syndrome
is_obsolete: true
replaced_by: MONDO:0007059

[Term]
id: MONDO:0000760
name: obsolete acrofacial dysostosis
is_obsolete: true
replaced_by: MONDO:0018237

[Term]
id: MONDO:0000761
name: syndrome caused by partial chromosomal deletion
comment: Editor note: this is used in DOID to encompass typically partial deletions
synonym: "chromosomal deletion syndrome" RELATED [DOID:0060388]
xref: DOID:0060388 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="DOID:0060388"} ! chromosomal anomaly
property_value: exactMatch DOID:0060388

[Term]
id: MONDO:0000762
name: syndrome caused by partial chromosomal duplication
comment: Editor note: this is used in DOID to encompass typically partial duplications
synonym: "chromosomal duplication syndrome" RELATED [DOID:0060429]
xref: DOID:0060429 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="DOID:0060429"} ! chromosomal anomaly
property_value: exactMatch DOID:0060429

[Term]
id: MONDO:0000763
name: epithelial and subepithelial corneal dystrophy
synonym: "epithelial and subepithelial dystrophy" RELATED [DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf]
xref: DOID:0060440 {source="MONDO:equivalentTo"}
is_a: MONDO:0018102 {source="DOID:0060440"} ! corneal dystrophy (disease)
property_value: exactMatch DOID:0060440

[Term]
id: MONDO:0000764
name: epithelial-stromal TGFBI dystrophy
def: "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene." [MONDO:design_pattern]
synonym: "corneal dystrophy (disease) caused by mutation in TGFBI" EXACT []
synonym: "TGFBI corneal dystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0060441 {source="MONDO:equivalentTo"}
is_a: MONDO:0018102 {source="DOID:0060441", source="MONDO:Redundant"} ! corneal dystrophy (disease)
property_value: exactMatch DOID:0060441

[Term]
id: MONDO:0000765
name: obsolete corneal stromal dystrophy
is_obsolete: true
replaced_by: MONDO:0020213

[Term]
id: MONDO:0000766
name: corneal endothelial dystrophy
def: "A corneal dystrophy (disease) that involves the corneal epithelium." [MONDO:design_pattern]
synonym: "corneal dystrophy (disease) of corneal epithelium" EXACT []
synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location]
synonym: "endothelial dystrophy" RELATED [DOID:0060443]
xref: COHD:443740 {source="MONDO:equivalentTo"}
xref: DOID:0060443 {source="MONDO:equivalentTo"}
xref: ICD9:371.57 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:416960004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.23"}
is_a: MONDO:0018102 {source="DOID:0060443", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal dystrophy (disease)
property_value: exactMatch DOID:0060443
property_value: exactMatch http://identifiers.org/snomedct/416960004

[Term]
id: MONDO:0000767
name: obsolete nut midline carcinoma
is_obsolete: true
replaced_by: MONDO:0005563

[Term]
id: MONDO:0000768
name: obsolete Zika fever
is_obsolete: true
replaced_by: MONDO:0018661

[Term]
id: MONDO:0000769
name: chicken egg allergy
def: "An egg allergy triggered by Gallus gallus eggs." [DOID:0060492]
synonym: "Gallus gallus egg allergy" RELATED [DOID:0060492]
xref: DOID:0060492 {source="MONDO:equivalentTo"}
is_a: MONDO:0005741 {source="DOID:0060492"} ! egg allergy
property_value: exactMatch DOID:0060492

[Term]
id: MONDO:0000770
name: shellfish allergy
def: "Allergic reaction to shellfish or shellfish products." [MESH:D000067208]
xref: DOID:0060495 {source="MONDO:equivalentTo"}
xref: MESH:D000067208 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:300913006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0577625 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:0060495", source="MESH:D000067208", source="linkedlifedata", source="linkedlifedata/inferred"} ! food allergy
property_value: exactMatch DOID:0060495
property_value: exactMatch http://identifiers.org/mesh/D000067208
property_value: exactMatch http://identifiers.org/snomedct/300913006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0577625

[Term]
id: MONDO:0000771
name: allergic respiratory disease
def: "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
synonym: "airway allergy" EXACT [DOID:0060496]
synonym: "allergic form of respiratory system disease" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic respiratory system disease" EXACT []
synonym: "respiratory allergy" EXACT []
xref: DOID:0060496 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0005271 {source="DOID:0060496", source="MONDO:Redundant"} ! allergic disease
property_value: exactMatch DOID:0060496

[Term]
id: MONDO:0000772
name: pollen allergy
def: "A allergy involving pollen." [MONDO:patterns/allergy]
synonym: "allergy of pollen" EXACT [MONDO:patterns/allergy]
synonym: "pollen allergic disease" EXACT []
xref: DOID:0060497 {source="MONDO:equivalentTo"}
is_a: MONDO:0005271 ! allergic disease
relationship: excluded_subClassOf MONDO:0000771 {source="DOID:0060497"} ! allergic respiratory disease
property_value: exactMatch DOID:0060497

[Term]
id: MONDO:0000773
name: Timothy grass allergy
def: "A allergy involving a Phleum pratense." [MONDO:patterns/allergy]
synonym: "allergy of Phleum pratense" EXACT [MONDO:patterns/allergy]
synonym: "Phleum pratense allergic disease" EXACT []
synonym: "Phleum pratense caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060498 {source="MONDO:equivalentTo"}
is_a: MONDO:0000772 {source="DOID:0060498"} ! pollen allergy
property_value: exactMatch DOID:0060498

[Term]
id: MONDO:0000774
name: autoimmune neuropathy
def: "An autoimmune form of peripheral neuropathy." [MONDO:patterns/autoimmune]
comment: Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20
synonym: "autoimmune peripheral neuropathy" EXACT [DOID:0040087]
xref: DOID:0040087 {source="MONDO:equivalentTo"}
xref: DOID:0060499 {source="MONDO:equivalentTo"}
is_a: MONDO:0000590 ! autoimmune disease of peripheral nervous system
is_a: MONDO:0005244 ! peripheral neuropathy
relationship: excluded_subClassOf MONDO:0000568 {source="DOID:0060499"} ! autoimmune disease of central nervous system
relationship: excluded_subClassOf MONDO:0000590 {source="DOID:0040087"} ! autoimmune disease of peripheral nervous system
property_value: exactMatch DOID:0040087
property_value: exactMatch DOID:0060499

[Term]
id: MONDO:0000775
name: drug allergy
def: "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." [MESH:D004342]
synonym: "allergy of exposure to drug" EXACT [MONDO:patterns/allergy]
synonym: "exposure to drug allergic disease" EXACT []
xref: COHD:439224 {source="MONDO:equivalentTo"}
xref: DOID:0060500 {source="MONDO:equivalentTo"}
xref: MESH:D004342 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0005271 {source="DOID:0060500", source="MESH:D004342", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch DOID:0060500
property_value: exactMatch http://identifiers.org/mesh/D004342

[Term]
id: MONDO:0000776
name: metal allergy
def: "A allergy involving a metal allergen." [MONDO:patterns/allergy]
synonym: "allergy of metal allergen" EXACT [MONDO:patterns/allergy]
synonym: "metal allergen allergic disease" EXACT []
xref: DOID:0060501 {source="MONDO:equivalentTo"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:300915004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0577627 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005271 {source="DOID:0060501", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease
property_value: exactMatch DOID:0060501
property_value: exactMatch http://identifiers.org/snomedct/300915004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0577627

[Term]
id: MONDO:0000777
name: gastrointestinal allergy
def: "A allergic disease that involves the digestive tract." [MONDO:patterns/location]
synonym: "allergic disease of digestive tract" EXACT [MONDO:design_pattern]
synonym: "digestive tract allergic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060502 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005271 {source="DOID:0060502", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
property_value: exactMatch DOID:0060502

[Term]
id: MONDO:0000778
name: fruit allergy
def: "A food allergy triggered by a plant fruit product." [DOID:0060503]
xref: DOID:0060503 {source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:0060503"} ! food allergy
property_value: exactMatch DOID:0060503

[Term]
id: MONDO:0000779
name: apple allergy
def: "A allergy involving a Malus domestica." [MONDO:patterns/allergy]
synonym: "allergy of Malus domestica" EXACT [MONDO:patterns/allergy]
synonym: "Malus domestica allergic disease" EXACT []
synonym: "Malus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Malus domestica fruit allergy" EXACT [DOID:0060504]
xref: DOID:0060504 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060504"} ! fruit allergy
property_value: exactMatch DOID:0060504

[Term]
id: MONDO:0000780
name: apricot allergy
def: "A allergy involving a Prunus armeniaca." [MONDO:patterns/allergy]
synonym: "allergy of Prunus armeniaca" EXACT [MONDO:patterns/allergy]
synonym: "Prunus armeniaca allergic disease" EXACT []
synonym: "Prunus armeniaca caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus armeniaca fruit allergy" EXACT [DOID:0060505]
xref: DOID:0060505 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060505"} ! fruit allergy
property_value: exactMatch DOID:0060505

[Term]
id: MONDO:0000781
name: cherry allergy
def: "A fruit allergy triggered by Prunus avium plant fruit food product." [DOID:0060506]
synonym: "Prunus avium fruit allergy" EXACT [DOID:0060506]
xref: DOID:0060506 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060506"} ! fruit allergy
property_value: exactMatch DOID:0060506

[Term]
id: MONDO:0000782
name: Indian plum allergy
def: "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." [DOID:0060507]
synonym: "Ziziphus mauritiana fruit allergy" EXACT [DOID:0060507]
xref: DOID:0060507 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060507"} ! fruit allergy
property_value: exactMatch DOID:0060507

[Term]
id: MONDO:0000783
name: orange allery
def: "A fruit allergy triggered by Citrus sinensis plant fruit food product." [DOID:0060508]
synonym: "Citrus sinensis fruit allergy" EXACT [DOID:0060508]
synonym: "orange allergy" RELATED [DOID:0060508]
xref: DOID:0060508 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060508"} ! fruit allergy
property_value: exactMatch DOID:0060508

[Term]
id: MONDO:0000784
name: melon allergy
def: "A fruit allergy triggered by Cucumis melo plant fruit food product." [DOID:0060509]
synonym: "Cucumis melo fruit allergy" EXACT [DOID:0060509]
xref: DOID:0060509 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060509"} ! fruit allergy
property_value: exactMatch DOID:0060509

[Term]
id: MONDO:0000785
name: peach allergy
def: "A allergy involving a Prunus persica." [MONDO:patterns/allergy]
synonym: "allergy of Prunus persica" EXACT [MONDO:patterns/allergy]
synonym: "Prunus persica allergic disease" EXACT []
synonym: "Prunus persica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus persica fruit allergy" EXACT [DOID:0060510]
xref: DOID:0060510 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060510"} ! fruit allergy
property_value: exactMatch DOID:0060510

[Term]
id: MONDO:0000786
name: plum allergy
def: "A allergy involving a Prunus domestica." [MONDO:patterns/allergy]
synonym: "allergy of Prunus domestica" EXACT [MONDO:patterns/allergy]
synonym: "Prunus domestica allergic disease" EXACT []
synonym: "Prunus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus domestica fruit allergy" EXACT [DOID:0060511]
xref: DOID:0060511 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060511"} ! fruit allergy
property_value: exactMatch DOID:0060511

[Term]
id: MONDO:0000787
name: tomato allergy
def: "A allergy involving a Solanum lycopersicum." [MONDO:patterns/allergy]
synonym: "allergy of Solanum lycopersicum" EXACT [MONDO:patterns/allergy]
synonym: "Solanum lycopersicum allergic disease" EXACT []
synonym: "Solanum lycopersicum caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Solanum lycopersicum fruit allergy" EXACT [DOID:0060512]
xref: DOID:0060512 {source="MONDO:equivalentTo"}
is_a: MONDO:0000778 {source="DOID:0060512"} ! fruit allergy
property_value: exactMatch DOID:0060512

[Term]
id: MONDO:0000788
name: fish allergy
def: "A allergy involving fish." [MONDO:patterns/allergy]
synonym: "allergy of fish food product" EXACT [MONDO:patterns/allergy]
synonym: "fish food product allergic disease" EXACT []
xref: DOID:0060513 {source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:0060513", source="MONDO:Redundant"} ! food allergy
property_value: exactMatch DOID:0060513

[Term]
id: MONDO:0000789
name: Atlantic cod allergy
def: "A allergy involving a Gadus morhua." [MONDO:patterns/allergy]
synonym: "allergy of Gadus morhua" EXACT [MONDO:patterns/allergy]
synonym: "Gadus morhua allergic disease" EXACT []
synonym: "Gadus morhua caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Gadus morhua fish allergy" EXACT [DOID:0060514]
xref: DOID:0060514 {source="MONDO:equivalentTo"}
is_a: MONDO:0000788 {source="DOID:0060514"} ! fish allergy
property_value: exactMatch DOID:0060514

[Term]
id: MONDO:0000790
name: Atlantic salmon allergy
def: "A allergy involving a Salmo salar." [MONDO:patterns/allergy]
synonym: "allergy of Salmo salar" EXACT [MONDO:patterns/allergy]
synonym: "Salmo salar allergic disease" EXACT []
synonym: "Salmo salar caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Salmo salar fish allergy" EXACT [DOID:0060515]
xref: DOID:0060515 {source="MONDO:equivalentTo"}
is_a: MONDO:0000788 {source="DOID:0060515"} ! fish allergy
property_value: exactMatch DOID:0060515

[Term]
id: MONDO:0000791
name: carp allergy
def: "A allergy involving a Cyprinus carpio." [MONDO:patterns/allergy]
synonym: "allergy of Cyprinus carpio" EXACT [MONDO:patterns/allergy]
synonym: "Cyprinus carpio allergic disease" EXACT []
synonym: "Cyprinus carpio caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyprinus carpio fish allergy" EXACT [DOID:0060516]
xref: DOID:0060516 {source="MONDO:equivalentTo"}
is_a: MONDO:0000788 {source="DOID:0060516"} ! fish allergy
property_value: exactMatch DOID:0060516

[Term]
id: MONDO:0000792
name: obsolete zebrafish allergy
xref: DOID:0060517 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:0060517
is_obsolete: true

[Term]
id: MONDO:0000793
name: rainbow trout allergy
def: "A allergy involving a Oncorhynchus mykiss." [MONDO:patterns/allergy]
synonym: "allergy of Oncorhynchus mykiss" EXACT [MONDO:patterns/allergy]
synonym: "Oncorhynchus mykiss allergic disease" EXACT []
synonym: "Oncorhynchus mykiss allergy" EXACT [DOID:0060518]
synonym: "Oncorhynchus mykiss caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060518 {source="MONDO:equivalentTo"}
is_a: MONDO:0000788 {source="DOID:0060518"} ! fish allergy
property_value: exactMatch DOID:0060518

[Term]
id: MONDO:0000794
name: beta-lactam allergy
def: "A allergy involving a beta-lactam." [MONDO:patterns/allergy]
synonym: "allergy of beta-lactam" EXACT [MONDO:patterns/allergy]
synonym: "beta-lactam allergic disease" EXACT []
xref: DOID:0060519 {source="MONDO:equivalentTo"}
is_a: MONDO:0000775 {source="DOID:0060519"} ! drug allergy
property_value: exactMatch DOID:0060519

[Term]
id: MONDO:0000795
name: penicillin allergy
def: "An allergy to Penicillin." [NCIT:C34911]
synonym: "allergy of penicillin" EXACT [MONDO:patterns/allergy]
synonym: "penicillin allergic disease" EXACT []
xref: DOID:0060520 {source="MONDO:equivalentTo"}
xref: ICD9:995.27 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:V14.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34911 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:91936005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0030824 {source="MONDO:equivalentTo", source="NCIT:C34911"}
is_a: MONDO:0000794 {source="DOID:0060520", source="MONDO:Entailed", source="MONDO:Redundant"} ! beta-lactam allergy
property_value: exactMatch DOID:0060520
property_value: exactMatch http://identifiers.org/snomedct/91936005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030824
property_value: exactMatch NCIT:C34911

[Term]
id: MONDO:0000796
name: cow milk allergy (disease)
def: "A allergy involving cow mile." [MONDO:patterns/allergy]
synonym: "allergy of cow milk based food product" EXACT [MONDO:patterns/allergy]
synonym: "Bos taurus milk allergy" EXACT [DOID:0060521]
synonym: "cow milk allergy" EXACT [MONDO:ambiguous]
synonym: "cow milk based food product allergic disease" EXACT []
xref: DOID:0060521 {source="MONDO:equivalentTo"}
xref: HP:0100327 {source="MONDO:otherHierarchy", source="ontobio"}
is_a: MONDO:0005849 {source="DOID:0060521"} ! milk allergic reaction
property_value: exactMatch DOID:0060521

[Term]
id: MONDO:0000797
name: goat milk allergy
def: "A allergy involving goat milk." [MONDO:patterns/allergy]
synonym: "allergy of goat dairy food product" EXACT [MONDO:patterns/allergy]
synonym: "Capra hircus milk allergy" EXACT [DOID:0060522]
synonym: "goat dairy food product allergic disease" EXACT []
xref: DOID:0060522 {source="MONDO:equivalentTo"}
is_a: MONDO:0005849 {source="DOID:0060522"} ! milk allergic reaction
property_value: exactMatch DOID:0060522

[Term]
id: MONDO:0000798
name: mollusc allergy
def: "A allergic disease involving a mollusc food product." [MONDO:patterns/allergy]
synonym: "allergy of mollusc food product" EXACT [MONDO:patterns/allergy]
synonym: "mollusc food product allergic disease" EXACT []
xref: DOID:0060523 {source="MONDO:equivalentTo"}
is_a: MONDO:0000770 {source="DOID:0060523"} ! shellfish allergy
property_value: exactMatch DOID:0060523

[Term]
id: MONDO:0000799
name: crustacean allergy
def: "A allergic disease involving a crustacean food product." [MONDO:patterns/allergy]
synonym: "allergy of crustacean food product" EXACT [MONDO:patterns/allergy]
synonym: "crustacean food product allergic disease" EXACT []
xref: DOID:0060524 {source="MONDO:equivalentTo"}
is_a: MONDO:0000770 {source="DOID:0060524"} ! shellfish allergy
property_value: exactMatch DOID:0060524

[Term]
id: MONDO:0000800
name: brown shrimp allergy
def: "A allergic disease involving a brown shrimp." [MONDO:patterns/allergy]
synonym: "allergy of brown shrimp" EXACT [MONDO:patterns/allergy]
synonym: "brown shrimp allergic disease" EXACT []
synonym: "Farfantepenaeus aztecus allergy" EXACT [DOID:0060525]
xref: DOID:0060525 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0060525"} ! crustacean allergy
property_value: exactMatch DOID:0060525

[Term]
id: MONDO:0000801
name: green mud crab allergy
def: "A allergic disease involving a green mud crab." [MONDO:patterns/allergy]
synonym: "allergy of green mud crab" EXACT [MONDO:patterns/allergy]
synonym: "crab allergy" RELATED [DOID:0060526]
synonym: "green mud crab allergic disease" EXACT []
synonym: "Scylla paramamosain allergy" EXACT [DOID:0060526]
xref: DOID:0060526 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0060526"} ! crustacean allergy
property_value: exactMatch DOID:0060526

[Term]
id: MONDO:0000802
name: Indian prawn allergy
def: "A allergic disease involving a Indian prawn." [MONDO:patterns/allergy]
synonym: "allergy of Indian prawn" EXACT [MONDO:patterns/allergy]
synonym: "Fenneropenaeus indicus allergy" EXACT [DOID:0060527]
synonym: "Indian prawn allergic disease" EXACT []
xref: DOID:0060527 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0060527"} ! crustacean allergy
property_value: exactMatch DOID:0060527

[Term]
id: MONDO:0000803
name: tiger prawn allergy
def: "A allergy involving a Penaeus monodon." [MONDO:patterns/allergy]
synonym: "allergy of Penaeus monodon" EXACT [MONDO:patterns/allergy]
synonym: "Penaeus monodon allergic disease" EXACT []
synonym: "Penaeus monodon allergy" EXACT [DOID:0060528]
synonym: "Penaeus monodon caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060528 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0060528"} ! crustacean allergy
property_value: exactMatch DOID:0060528

[Term]
id: MONDO:0000804
name: white shrimp allergy
def: "A allergy involving a Litopenaeus schmitti." [MONDO:patterns/allergy]
synonym: "allergy of Litopenaeus schmitti" EXACT [MONDO:patterns/allergy]
synonym: "Litopenaeus schmitti allergic disease" EXACT []
synonym: "Litopenaeus schmitti caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Litopenaeus vannamei allergy" EXACT [DOID:0060529]
xref: DOID:0060529 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0060529"} ! crustacean allergy
property_value: exactMatch DOID:0060529

[Term]
id: MONDO:0000805
name: snail allergy
def: "A allergic disease involving a snail food product." [MONDO:patterns/allergy]
synonym: "allergy of snail food product" EXACT [MONDO:patterns/allergy]
synonym: "snail food product allergic disease" EXACT []
xref: DOID:0060530 {source="MONDO:equivalentTo"}
is_a: MONDO:0000798 {source="DOID:0060530", source="MONDO:Redundant"} ! mollusc allergy
property_value: exactMatch DOID:0060530

[Term]
id: MONDO:0000806
name: horned turban snail allergy
def: "A allergy involving a Turbo cornutus." [MONDO:patterns/allergy]
synonym: "allergy of Turbo cornutus" EXACT [MONDO:patterns/allergy]
synonym: "Turbo cornutus allergic disease" EXACT []
synonym: "Turbo cornutus allergy" EXACT [DOID:0060531]
synonym: "Turbo cornutus caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060531 {source="MONDO:equivalentTo"}
is_a: MONDO:0000805 {source="DOID:0060531"} ! snail allergy
property_value: exactMatch DOID:0060531

[Term]
id: MONDO:0000807
name: latex allergy
def: "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." [MESH:D020315]
comment: Editor note: TODO request
xref: COHD:4102123 {source="MONDO:equivalentTo"}
xref: DOID:0060532 {source="MONDO:equivalentTo"}
xref: ICD9:989.82 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:V15.07 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020315 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:300916003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005271 {source="DOID:0060532", source="MESH:D020315", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease
property_value: exactMatch DOID:0060532
property_value: exactMatch http://identifiers.org/mesh/D020315
property_value: exactMatch http://identifiers.org/snomedct/300916003

[Term]
id: MONDO:0000808
name: obsolete hepatoid adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006243

[Term]
id: MONDO:0000809
name: purpura fulminans
def: "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." [MESH:D055665]
synonym: "fibrinolytic purpura" RELATED [MONDO:cjm]
synonym: "purpura gangrenosa" EXACT [DOID:0060538]
xref: DOID:0060538 {source="MONDO:equivalentTo"}
xref: EFO:1001913 {source="MONDO:equivalentTo"}
xref: ICD10:D65 {source="DOID:0060538"}
xref: MESH:D055665 {source="MONDO:equivalentTo", source="DOID:0060538", source="MONDO:ontobio"}
xref: SCTID:13507004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001243 {source="MONDO:cjm", source="linkedlifedata"} ! disseminated intravascular coagulation
is_a: MONDO:0002610 {source="DOID:0060538", source="MESH:D055665", source="linkedlifedata", source="linkedlifedata/inferred"} ! purpura (disease)
property_value: exactMatch DOID:0060538
property_value: exactMatch http://identifiers.org/mesh/D055665
property_value: exactMatch http://identifiers.org/snomedct/13507004

[Term]
id: MONDO:0000810
name: obsolete DMD-related dilated cardiomyopathy
def: "A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene." [DOID:0060561, https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy]
is_obsolete: true
replaced_by: MONDO:0010542

[Term]
id: MONDO:0000811
name: anomalous left coronary artery from the pulmonary artery
def: "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life." [MESH:D063748]
synonym: "ALCAPA" EXACT [DOID:0060562]
synonym: "ALCAPA disorder" EXACT [PMID:24086793]
synonym: "Bland-White-Garland syndrome" EXACT [DOID:0060562, PMID:24086793]
synonym: "BWGS" EXACT [PMID:24086793]
synonym: "White-Garland syndrome" EXACT [DOID:0060562]
xref: DOID:0060562 {source="MONDO:equivalentTo"}
xref: MESH:D063748 {source="DOID:0060562", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1735886 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0001389 {source="DOID:0060562"} ! congenital coronary artery anomaly
property_value: exactMatch DOID:0060562
property_value: exactMatch http://identifiers.org/mesh/D063748
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1735886

[Term]
id: MONDO:0000812
name: vertebral column disease
def: "A disease involving the vertebral column." [MONDO:patterns/location_top]
synonym: "disease of spine" EXACT []
synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vertebral column" EXACT []
synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vertebral column" RELATED [MONDO:patterns/location_top]
synonym: "spinal disease" RELATED [DOID:0060564]
synonym: "vertebral column disease" EXACT [MONDO:patterns/location]
synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060564 {source="MONDO:equivalentTo"}
xref: ICD9:724.9 {source="linkedlifedata"}
xref: MESH:D013122 {source="MONDO:equivalentTo"}
xref: SCTID:699699005 {source="MONDO:equivalentTo"}
xref: UMLS:C0037933 {source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
property_value: exactMatch DOID:0060564
property_value: exactMatch http://identifiers.org/mesh/D013122
property_value: exactMatch http://identifiers.org/snomedct/699699005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037933

[Term]
id: MONDO:0000813
name: cardiac tuberculosis
def: "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." [MESH:D014381]
synonym: "cardiovascular tuberculosis" NARROW [DOID:0060570]
xref: DOID:0060570 {source="MONDO:equivalentTo"}
xref: EFO:1001442 {source="MONDO:equivalentTo"}
xref: MESH:D014381 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060570"}
xref: UMLS:C0041308 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
is_a: MONDO:0018076 {source="DOID:0060570", source="EFO:1001442", source="MESH:D014381", source="MONDO:Redundant"} ! tuberculosis
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch DOID:0060570
property_value: exactMatch http://identifiers.org/mesh/D014381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041308

[Term]
id: MONDO:0000814
name: B-cell adult acute lymphocytic leukemia
def: "An acute B-lymphoblastic leukemia occurring in adults." [NCIT:P378]
synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult B cell acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "adult B cell acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "adult B cell ALL" EXACT [NCIT:C9143]
synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult B-cell acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "adult B-cell ALL" EXACT [NCIT:C9143]
synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern]
synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592]
synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9143]
synonym: "B cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B cell adult acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "B cell adult ALL" EXACT [NCIT:C9143]
synonym: "B-cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B-cell adult ALL" EXACT [NCIT:C9143]
synonym: "B-cell childhood acute lymphoblastic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:0060592 {source="MONDO:equivalentTo"}
xref: EFO:1001935 {source="MONDO:equivalentTo"}
xref: NCIT:C9143 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.26", source="DOID:0060592"}
xref: UMLS:C0279593 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9143"}
is_a: MONDO:0000872 ! B-cell childhood acute lymphoblastic leukemia
is_a: MONDO:0003541 {source="DOID:0060592", source="MONDOLEX:0000814", source="NCIT:C9143"} ! adult acute lymphoblastic leukemia
is_a: MONDO:0003660 ! adult lymphoma
property_value: exactMatch DOID:0060592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279593
property_value: exactMatch NCIT:C9143

[Term]
id: MONDO:0000815
name: fetal nicotine spectrum disorder
def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." [DOID:0060606, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/, PMID:20363831]
xref: DOID:0060606 {source="MONDO:equivalentTo"}
is_a: MONDO:0000592 {source="DOID:0060606"} ! specific developmental disorder
property_value: exactMatch DOID:0060606

[Term]
id: MONDO:0000816
name: abdominal obesity-metabolic syndrome
xref: DOID:0060611 {source="MONDO:equivalentTo"}
xref: MESH:C535554 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:605552 {source="DOID:0060611", source="MONDO:equivalentTo"}
xref: UMLS:C2930930 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003916 {source="DOID:0060611"} ! overnutrition
property_value: exactMatch DOID:0060611
property_value: exactMatch http://identifiers.org/mesh/C535554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930930

[Term]
id: MONDO:0000818
name: obsolete lethal congenital contracture syndrome 4
is_obsolete: true
replaced_by: MONDO:0013965

[Term]
id: MONDO:0000819
name: anencephaly
def: "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." [NCIT:C84560]
synonym: "anencephalus" EXACT [NCIT:C84560]
xref: DOID:0060668 {source="MONDO:equivalentTo"}
xref: ICD10:00.0 {source="DOID:0060668"}
xref: NCIT:C84560 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.70/1.45"}
is_a: MONDO:0002320 {source="DOID:0060668"} ! congenital nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002902
property_value: exactMatch DOID:0060668
property_value: exactMatch NCIT:C84560

[Term]
id: MONDO:0000820
name: cerebral cavernous malformation
def: "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." [NCIT:C84626]
synonym: "cavernous angiomatous malformations" EXACT [DOID:0060669]
synonym: "CCM" EXACT [DOID:0060669]
synonym: "cerebral capillary malformations" EXACT [DOID:0060669]
synonym: "familial cavernous angioma" RELATED [DOID:0060669]
xref: DOID:0060669 {source="MONDO:equivalentTo"}
xref: NCIT:C84626 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0002320 {source="NCIT:C4976", source="NCIT:C84626/inferred"} ! congenital nervous system disorder
relationship: excluded_subClassOf MONDO:0003241 {source="DOID:0060669"} ! central nervous system hemangioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2919945
property_value: exactMatch DOID:0060669
property_value: exactMatch NCIT:C84626

[Term]
id: MONDO:0000822
name: obsolete lymphoproliferative syndrome
is_obsolete: true
replaced_by: MONDO:0016537

[Term]
id: MONDO:0000824
name: congenital diarrhea
synonym: "diarrhea, congenital" EXACT [MONDO:0000117]
xref: DC:0000503 {source="MONDO:equivalentTo"}
xref: DOID:0060774 {source="MONDO:equivalentTo"}
xref: OMIMPS:214700 {source="DOID:0060774", source="MONDO:equivalentTo", source="DC:0000503"}
xref: UMLS:CN232319 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001673 {source="DC:0000503", source="DOID:0060774", source="MONDO:Redundant"} ! diarrheal disease
property_value: exactMatch DOID:0060774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN232319

[Term]
id: MONDO:0000825
name: obsolete hypomyelinating leukodystrophy
is_obsolete: true
replaced_by: MONDO:0019046

[Term]
id: MONDO:0000826
name: obsolete syndromic X-linked intellectual disability Cabezas type
is_obsolete: true
replaced_by: MONDO:0010306

[Term]
id: MONDO:0000827
name: salmonellosis
def: "Infections with bacteria of the genus salmonella." [MESH:D012480]
subset: ordo_group_of_disorders {source="Orphanet:795"}
synonym: "infections, Salmonella" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "rare form of salmonellosis" EXACT [MONDO:0019331]
synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent]
xref: COHD:133685 {source="MONDO:equivalentTo"}
xref: DOID:0060859 {source="MONDO:equivalentTo"}
xref: EFO:1001418 {source="MONDO:equivalentTo"}
xref: ICD10:A01.0 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A01.1 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A01.2 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A01.3 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A01.4 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A02.0 {source="DOID:0060859"}
xref: ICD10:A02.0 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A02.1 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A02.2 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A02.8 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD10:A02.9 {source="ORDO:795/btnt", source="Orphanet:795"}
xref: ICD9:003.0 {source="MONDO:relatedTo", source="DOID:0060859"}
xref: ICD9:003.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:003.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10039447 {source="ORDO:795/e", source="Orphanet:795"}
xref: MESH:D012480 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:795 {source="MONDO:equivalentTo"}
xref: SCTID:302231008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0036117 {source="MONDO:equivalentTo", source="ORDO:795/e", source="Orphanet:795"}
xref: UMLS:CN205993 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:0060859"} ! primary bacterial infectious disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036114
property_value: exactMatch DOID:0060859
property_value: exactMatch http://identifiers.org/meddra/10039447
property_value: exactMatch http://identifiers.org/mesh/D012480
property_value: exactMatch http://identifiers.org/snomedct/302231008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205993
property_value: exactMatch Orphanet:795
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0000828
name: juvenile-onset Parkinson disease
synonym: "juvenile-onset Parkinson's disease" RELATED [DOID:0060893]
xref: DOID:0060893 {source="MONDO:equivalentTo"}
is_a: MONDO:0005180 ! Parkinson disease
property_value: exactMatch DOID:0060893

[Term]
id: MONDO:0000829
name: obsolete early-onset Parkinson disease
is_obsolete: true
replaced_by: MONDO:0017279

[Term]
id: MONDO:0000830
name: obsolete Waldenstroem's macroglobulinemia
is_obsolete: true
replaced_by: MONDO:0007926

[Term]
id: MONDO:0000831
name: thrombotic disease
def: "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." [NCIT:C26891]
synonym: "blood clot" EXACT [MESH:D013927]
synonym: "blood Clots" EXACT [MESH:D013927]
synonym: "clot, blood" EXACT [MESH:D013927]
synonym: "Clots, blood" EXACT [MESH:D013927]
synonym: "Thromboses" EXACT [MESH:D013927]
synonym: "thrombosis" EXACT [NCIT:C26891]
synonym: "thrombotic disorder" EXACT [MONDO:cjm]
synonym: "thrombus" EXACT [MESH:D013927]
xref: DOID:0060903 {source="MONDO:equivalentTo"}
xref: ICD9:453.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013927 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26891 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:439127006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005385 {source="DOID:0060903", source="MESH:D013927/inferred", source="NCIT:C26891/inferred"} ! vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040053
property_value: exactMatch DOID:0060903
property_value: exactMatch http://identifiers.org/mesh/D013927
property_value: exactMatch http://identifiers.org/snomedct/439127006
property_value: exactMatch NCIT:C26891

[Term]
id: MONDO:0000832
name: obsolete myeloid neoplasm
is_obsolete: true
replaced_by: MONDO:0005170

[Term]
id: MONDO:0000833
name: bone remodeling disease
def: "A bone disease that results_in formation or resorption abnormalities located_in bone." [DOID:0080005, http://en.wikipedia.org/wiki/Bone_remodeling]
xref: DOID:0080005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005381 ! bone disease
property_value: exactMatch DOID:0080005

[Term]
id: MONDO:0000834
name: bone deterioration disease
def: "A bone structure disease that results_in change or damage of structure located_in bone." [DOID:0080007, http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm]
xref: DOID:0080007 {source="MONDO:equivalentTo"}
is_a: MONDO:0000836 {source="DOID:0080007"} ! disease of bone structure
property_value: exactMatch DOID:0080007

[Term]
id: MONDO:0000835
name: obsolete ischemic bone disease
is_obsolete: true
replaced_by: MONDO:0005380

[Term]
id: MONDO:0000836
name: disease of bone structure
synonym: "bone structure disease" RELATED [DOID:0080010]
xref: DOID:0080010 {source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="DOID:0080010"} ! bone disease
property_value: exactMatch DOID:0080010

[Term]
id: MONDO:0000837
name: bone resorption disease
def: "Bone loss due to osteoclastic activity." [MESH:D001862]
xref: DOID:0080011 {source="MONDO:equivalentTo"}
xref: MESH:D001862 {source="DOID:0080011", source="MONDO:equivalentTo"}
is_a: MONDO:0000833 ! bone remodeling disease
property_value: exactMatch DOID:0080011
property_value: exactMatch http://identifiers.org/mesh/D001862

[Term]
id: MONDO:0000838
name: obsolete chromosomal disease
is_obsolete: true
replaced_by: MONDO:0019040

[Term]
id: MONDO:0000839
name: congenital abnormality
def: "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." [NCIT:C2849]
synonym: "birth defect" EXACT [NCIT:C2849]
synonym: "CM - congenital malformation" RELATED []
synonym: "congenital Abnormality" EXACT [NCIT:C2849]
synonym: "congenital abnormality" EXACT []
synonym: "congenital anatomic Abnormality" EXACT [NCIT:C2849]
synonym: "congenital anatomical Abnormality" EXACT [NCIT:C2849]
synonym: "congenital anomalies of fetus" EXACT [NCIT:C2849]
synonym: "congenital anomaly" EXACT [NCIT:C2849]
synonym: "congenital anomaly or birth defect" EXACT [NCIT:C2849]
synonym: "congenital defect" EXACT [NCIT:C2849]
synonym: "congenital defect/deformity" EXACT [NCIT:C2849]
synonym: "congenital deformity" EXACT [NCIT:C2849]
synonym: "congenital malformation" EXACT [NCIT:C2849]
synonym: "defect/deformity, Congenital" EXACT [NCIT:C2849]
synonym: "defect/deformity, congenital" EXACT [NCIT:C2849]
synonym: "deformity/defect, Congenital" EXACT [NCIT:C2849]
synonym: "fetal developmental abnormality" RELATED []
synonym: "fetal malformation" RELATED []
synonym: "foetal malformation" RELATED []
synonym: "physical disorder" EXACT []
synonym: "SCONG" EXACT [NCIT:C2849]
xref: DOID:0080015 {source="MONDO:equivalentTo"}
xref: EFO:0003915 {source="MONDO:equivalentObsolete"}
xref: ICD10:Q00.Q99 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="linkedlifedata"}
xref: ICD9:759.9 {source="linkedlifedata"}
xref: MESH:D000013 {source="MONDO:equivalentTo"}
xref: NCIT:C2849 {source="MONDO:equivalentTo"}
xref: SCTID:276654001 {source="MONDO:equivalentTo"}
xref: UMLS:CN232116 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="DOID:0080015", source="NCIT:C2849/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder
relationship: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch DOID:0080015
property_value: exactMatch http://identifiers.org/mesh/D000013
property_value: exactMatch http://identifiers.org/snomedct/276654001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN232116
property_value: exactMatch NCIT:C2849

[Term]
id: MONDO:0000840
name: dysbaric osteonecrosis
def: "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." [http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis]
synonym: "caisson disease of bone" EXACT [DOID:0080018]
synonym: "DON" EXACT [DOID:0080018]
xref: DOID:0080018 {source="MONDO:equivalentTo"}
xref: SCTID:431591000124102 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0018373 {source="https://en.wikipedia.org/wiki/Dysbaric_osteonecrosis"} ! avascular necrosis
property_value: exactMatch DOID:0080018
property_value: exactMatch http://identifiers.org/snomedct/431591000124102

[Term]
id: MONDO:0000841
name: obsolete metaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009943

[Term]
id: MONDO:0000844
name: obsolete spondyloepimetaphyseal dysplasia
comment: Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0016761

[Term]
id: MONDO:0000845
name: fibrous dysplasia
def: "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." [NCIT:C34609]
synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609]
xref: DOID:0080031 {source="MONDO:equivalentTo"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34609 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.82"}
xref: SCTID:254145001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000833 {source="DOID:0080031"} ! bone remodeling disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0259779
property_value: exactMatch DOID:0080031
property_value: exactMatch http://identifiers.org/snomedct/254145001
property_value: exactMatch NCIT:C34609

[Term]
id: MONDO:0000846
name: obsolete craniodiaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009031

[Term]
id: MONDO:0000847
name: obsolete pycnodysostosis
is_obsolete: true
replaced_by: MONDO:0009940

[Term]
id: MONDO:0000848
name: obsolete axial osteomalacia
is_obsolete: true
replaced_by: MONDO:0007181

[Term]
id: MONDO:0000849
name: fibrogenesis imperfecta ossium
def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." [DOID:0080040, http://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx, PMID:7559718]
synonym: "baker's disease" EXACT [DOID:0080040]
xref: DOID:0080040 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0080040"} ! syndromic disease
property_value: exactMatch DOID:0080040

[Term]
id: MONDO:0000850
name: obsolete hypochondroplasia
is_obsolete: true
replaced_by: MONDO:0007793

[Term]
id: MONDO:0000851
name: obsolete achondrogenesis
is_obsolete: true
replaced_by: MONDO:0019648

[Term]
id: MONDO:0000852
name: obsolete hypochondrogenesis
is_obsolete: true
replaced_by: MONDO:0019669

[Term]
id: MONDO:0000853
name: obsolete Kniest dysplasia
is_obsolete: true
replaced_by: MONDO:0007987

[Term]
id: MONDO:0000854
name: obsolete Stickler syndrome
is_obsolete: true
replaced_by: MONDO:0019354

[Term]
id: MONDO:0000855
name: obsolete acromesomelic dysplasia
is_obsolete: true
replaced_by: MONDO:0019696

[Term]
id: MONDO:0000856
name: obsolete Charcot-Marie-Tooth disease type 6
is_obsolete: true
replaced_by: MONDO:0019551

[Term]
id: MONDO:0000857
name: obsolete Charcot-Marie-Tooth disease type 7
def: "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." [DOID:0080069, PMID:25491489]
xref: DOID:0080069 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015626 {source="DOID:0080069"} ! Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0080069
is_obsolete: true

[Term]
id: MONDO:0000858
name: neuronal intestinal dysplasia
xref: DOID:0080072 {source="MONDO:equivalentTo"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:253783001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345244 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003409 {source="DOID:0080072"} ! colonic disease
property_value: exactMatch DOID:0080072
property_value: exactMatch http://identifiers.org/snomedct/253783001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345244

[Term]
id: MONDO:0000859
name: spina bifida occulta (disease)
def: "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic." [NCIT:C101044]
synonym: "spina bifida occulta" EXACT [MONDO:ambiguous]
xref: COHD:381677 {source="MONDO:equivalentTo"}
xref: DOID:0080073 {source="MONDO:equivalentTo"}
xref: HP:0003298 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:756.17 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016136 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C101044 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:76916001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0008449 {source="DOID:0080073", source="MESH:D016136", source="NCIT:C101044", source="linkedlifedata"} ! spina bifida (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0080174
property_value: exactMatch DOID:0080073
property_value: exactMatch http://identifiers.org/mesh/D016136
property_value: exactMatch http://identifiers.org/snomedct/76916001
property_value: exactMatch NCIT:C101044

[Term]
id: MONDO:0000860
name: obsolete neural tube defect
is_obsolete: true
replaced_by: MONDO:0018075

[Term]
id: MONDO:0000861
name: obsolete tubular aggregate myopathy
is_obsolete: true
replaced_by: MONDO:0008051

[Term]
id: MONDO:0000862
name: obsolete reducing body myopathy
is_obsolete: true
replaced_by: MONDO:0019948

[Term]
id: MONDO:0000863
name: myopathy, lactic acidosis, and sideroblastic anemia
def: "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [Orphanet:2598]
subset: ordo_disease {source="Orphanet:2598"}
synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892]
synonym: "MLASA" EXACT [Orphanet:2598]
synonym: "MSA" EXACT [Orphanet:2598]
synonym: "myopathy with lactic acidosis and sideroblastic anemia" RELATED [GARD:0003885]
synonym: "myopathy, lactic acidosis and sideroblastic anemia" EXACT [MONDO_0000863, Orphanet:2598]
synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:600462]
synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885]
xref: DOID:0080099 {source="MONDO:equivalentTo"}
xref: GARD:0003885 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.3 {source="Orphanet:2598", source="ORDO:2598/attributed", source="ORDO:2598/ntbt"}
xref: MESH:C536101 {source="ORDO:2598/e", source="Orphanet:2598", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:600462 {source="MONDO:equivalentTo"}
xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:equivalentTo"}
xref: SCTID:724138007 {source="MONDO:equivalentTo"}
xref: UMLS:CN220387 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0009637 {source="MESH:C536101/inferred", source="Orphanet:2598"} ! inborn mitochondrial myopathy
is_a: MONDO:0018157 {source="Orphanet:2598"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0020099 {source="Orphanet:2598"} ! constitutional sideroblastic anemia
property_value: exactMatch DOID:0080099
property_value: exactMatch http://identifiers.org/mesh/C536101
property_value: exactMatch http://identifiers.org/snomedct/724138007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN220387
property_value: exactMatch Orphanet:2598

[Term]
id: MONDO:0000864
name: obsolete congenital myopathy
is_obsolete: true
replaced_by: MONDO:0019952

[Term]
id: MONDO:0000865
name: congenital fiber-type disproportion
xref: DOID:0080102 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="DOID:0080102"} ! congenital myopathy
property_value: exactMatch DOID:0080102

[Term]
id: MONDO:0000866
name: myoglobinuria
comment: TODO: cede to HPO
synonym: "myoglobinurias" RELATED [MESH:D009212]
xref: DOID:0080108 {source="MONDO:equivalentTo"}
xref: HP:0002913 {source="MONDO:otherHierarchy"}
xref: ICD10:R82.1 {source="MONDO:equivalentTo"}
xref: MESH:D009212 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0005290 {source="MESH:D009212"} ! rhabdomyolysis (disease)
is_a: MONDO:0005336 {source="DOID:0080108"} ! myopathy
property_value: exactMatch DOID:0080108
property_value: exactMatch http://identifiers.org/mesh/D009212

[Term]
id: MONDO:0000867
name: obsolete multiple pterygium syndrome
is_obsolete: true
replaced_by: MONDO:0017415

[Term]
id: MONDO:0000868
name: obsolete mitochondrial DNA depletion syndrome 6
synonym: "mitochondrial DNA depletion syndrome type 6" EXACT [DOID:0080125, MONDORULE:1]
synonym: "MTDPS6" EXACT []
is_obsolete: true
consider: MONDO:0009747

[Term]
id: MONDO:0000869
name: obsolete congenital fibrosis of the extraocular muscles
is_obsolete: true
replaced_by: MONDO:0007614

[Term]
id: MONDO:0000870
name: childhood acute lymphoblastic leukemia
def: "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." [NCIT:C3168]
subset: gard_rare {source="GARD:0009240"}
synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168]
synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "childhood acute lymphocytic leukemia" EXACT [DOID:0080144, NCIT:C3168]
synonym: "childhood acute lymphogenous leukemia" EXACT [NCIT:C3168]
synonym: "childhood acute lymphoid leukemia" EXACT [NCIT:C3168]
synonym: "childhood ALL" EXACT [NCIT:C3168]
synonym: "childhood precursor lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphocytic leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphocytic leukemia (ALL)" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphogenous leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphoid leukemia" EXACT [NCIT:C3168]
synonym: "pediatric ALL" EXACT [NCIT:C3168]
xref: DOID:0080144 {source="MONDO:equivalentTo"}
xref: GARD:0009240 {source="MONDO:equivalentTo"}
xref: NCIT:C3168 {source="DOID:0080144", source="MONDO:equivalentTo"}
is_a: MONDO:0003659 ! pediatric lymphoma
is_a: MONDO:0004355 {source="MONDO:Redundant", source="MONDOLEX:0000870", source="NCIT:C3168"} ! childhood leukemia
is_a: MONDO:0004967 {source="DOID:0080144", source="MONDO:Redundant", source="MONDOLEX:0000870", source="NCIT:C3168"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0017814 ! primary bone lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023452
property_value: exactMatch DOID:0080144
property_value: exactMatch NCIT:C3168
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia xsd:anyURI {source="GARD:0009240"}

[Term]
id: MONDO:0000871
name: T-cell childhood acute lymphocytic leukemia
def: "An acute lymphoblastic leukemia of T-cell origin occurring in children." [NCIT:C7953]
synonym: "childhood precursor T-lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "childhood T acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "childhood T-ALL" EXACT [NCIT:C7953]
synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T acute lymphoblastic leukemia" BROAD [NCIT:C7953]
synonym: "T-cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell childhood ALL" EXACT [NCIT:C7953]
synonym: "T-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell pediatric ALL" EXACT [NCIT:C7953]
xref: DOID:0080145 {source="MONDO:equivalentTo"}
xref: EFO:1001947 {source="MONDO:equivalentTo"}
xref: NCIT:C7953 {source="DOID:0080145", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.91/1.03"}
xref: UMLS:C0279583 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7953"}
is_a: MONDO:0000870 {source="DOID:0080145", source="MONDO:Redundant", source="MONDOLEX:0000871", source="NCIT:C7953"} ! childhood acute lymphoblastic leukemia
is_a: MONDO:0004403 {source="NCIT:C7953"} ! childhood precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004963 {source="EFO:1001947", source="MONDOLEX:0000871", source="NCIT:C7953"} ! T-cell acute lymphoblastic leukemia
property_value: exactMatch DOID:0080145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279583
property_value: exactMatch NCIT:C7953

[Term]
id: MONDO:0000872
name: B-cell childhood acute lymphoblastic leukemia
def: "An acute B-lymphoblastic leukemia occurring in children." [NCIT:P378]
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9140]
synonym: "B cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B cell childhood ALL" EXACT [NCIT:C9140]
synonym: "B cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B cell pediatric ALL" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphogenous leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphoid leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood ALL" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphogenous leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphoid leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric ALL" EXACT [NCIT:C9140]
synonym: "childhood B acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "childhood B-ALL" EXACT [NCIT:C9140]
synonym: "childhood precursor B-lymphoblastic leukemia" EXACT [NCIT:C9140]
xref: DOID:0080146 {source="MONDO:equivalentTo"}
xref: EFO:1001946 {source="MONDO:equivalentTo"}
xref: NCIT:C9140 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.26", source="DOID:0080146"}
xref: UMLS:C0279584 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9140"}
is_a: MONDO:0000870 {source="DOID:0080146", source="MONDOLEX:0000872", source="NCIT:C9140"} ! childhood acute lymphoblastic leukemia
is_a: MONDO:0020511 {source="MONDOLEX:0000872", source="NCIT:C9140"} ! precursor B-cell acute lymphoblastic leukemia
property_value: exactMatch DOID:0080146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279584
property_value: exactMatch NCIT:C9140

[Term]
id: MONDO:0000873
name: lymphoblastic lymphoma
def: "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." [NCIT:C9360]
subset: gard_rare {source="GARD:0003329"}
synonym: "lymphoblastic lymphoma" EXACT [NCIT:C9360]
synonym: "lymphoma, lymphoblastic" RELATED [GARD:0003329]
synonym: "lymphoma, lymphoblastic, malignant" EXACT [NCIT:C9360]
synonym: "precursor cell lymphoblastic lymphoma" EXACT [NCIT:C9360]
synonym: "precursor lymphoblastic lymphoma" EXACT [NCIT:C9360]
xref: DOID:0080147 {source="MONDO:equivalentTo"}
xref: GARD:0003329 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9727/3 {source="NCIT:C9360"}
xref: NCIT:C9360 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.05"}
xref: SCTID:109965004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.05"}
xref: UMLS:C0079748 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9360"}
is_a: MONDO:0003538 {source="NCIT:C9360"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0018908 {source="NCIT:C9360"} ! non-Hodgkin lymphoma
property_value: exactMatch DOID:0080147
property_value: exactMatch http://identifiers.org/snomedct/109965004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079748
property_value: exactMatch NCIT:C9360
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma xsd:anyURI {source="GARD:0003329"}

[Term]
id: MONDO:0000874
name: T-cell childhood lymphoblastic lymphoma
def: "A T lymphoblastic lymphoma that occurs during childhood." [NCIT:P378]
synonym: "childhood precursor T-lymphoblastic lymphoma" EXACT [NCIT:C7210]
synonym: "childhood T lymphoblastic lymphoma" EXACT [DOID:0080148, NCIT:C7210]
synonym: "T lymphoblastic lymphoma" EXACT [NCIT:C7210]
xref: DOID:0080148 {source="MONDO:equivalentTo"}
xref: EFO:1001948 {source="MONDO:equivalentTo"}
xref: NCIT:C7210 {source="MONDO:equivalentTo", source="DOID:0080148", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332998 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7210", source="MONDO:equivalentTo"}
is_a: MONDO:0000873 {source="DOID:0080148", source="NCIT:C7210/inferred"} ! lymphoblastic lymphoma
is_a: MONDO:0003659 ! pediatric lymphoma
is_a: MONDO:0004403 {source="NCIT:C7210"} ! childhood precursor T-lymphoblastic lymphoma/leukemia
property_value: exactMatch DOID:0080148
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332998
property_value: exactMatch NCIT:C7210

[Term]
id: MONDO:0000875
name: adult acute monocytic leukemia
def: "A acute monocytic leukemia that occurs in an adult." [MONDO:design_pattern]
synonym: "acute monocytic leukemia" EXACT [NCIT:C8263]
synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263]
synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263]
synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263]
synonym: "M5b adult acute leukemia" EXACT [NCIT:C8263]
xref: DOID:0080149 {source="MONDO:equivalentTo"}
xref: NCIT:C8263 {source="MONDO:equivalentTo", source="DOID:0080149"}
xref: UMLS:C0280634 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8263"}
is_a: MONDO:0007896 {source="DOID:0080149", source="MONDO:Redundant", source="MONDOLEX:0000875", source="NCIT:C8263"} ! acute monocytic leukemia
property_value: exactMatch DOID:0080149
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280634
property_value: exactMatch NCIT:C8263

[Term]
id: MONDO:0000876
name: obsolete herpes simplex virus keratitis
is_obsolete: true
replaced_by: MONDO:0015288

[Term]
id: MONDO:0000877
name: obsolete Cryptococcal meningitis
is_obsolete: true
replaced_by: MONDO:0005723

[Term]
id: MONDO:0000878
name: cytomegalovirus retinitis
def: "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." [MESH:D017726]
subset: gard_rare {source="GARD:0009531"}
synonym: "CMV retinitis" EXACT [DOID:0080160]
synonym: "Cytomegaloviral Retinitis" EXACT [NCIT:C50521]
synonym: "Cytomegalovirus caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cytomegalovirus retinitis" EXACT []
synonym: "cytomegalovirus retinitis" EXACT []
synonym: "Retinitis, Cytomegaloviral" EXACT [NCIT:C50521]
xref: DOID:0080160 {source="MONDO:equivalentTo"}
xref: EFO:1001302 {source="MONDO:equivalentTo"}
xref: GARD:0009531 {source="MONDO:equivalentTo"}
xref: MESH:D017726 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0080160"}
xref: NCIT:C50521 {source="MONDO:equivalentTo"}
xref: SCTID:22455005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.16"}
xref: UMLS:C0206178 {source="MONDO:equivalentTo", source="GARD:0009531"}
is_a: MONDO:0002708 {source="DOID:0080160", source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinitis
is_a: MONDO:0005132 {source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521", source="linkedlifedata"} ! cytomegalovirus infection
is_a: MONDO:0016047 ! endophthalmitis
is_a: MONDO:0020010 ! infectious disease of the nervous system
is_a: MONDO:0020950 ! viral eye infection
property_value: exactMatch DOID:0080160
property_value: exactMatch http://identifiers.org/mesh/D017726
property_value: exactMatch http://identifiers.org/snomedct/22455005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206178
property_value: exactMatch NCIT:C50521
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis xsd:anyURI {source="GARD:0009531"}

[Term]
id: MONDO:0000879
name: cutaneous candidiasis
def: "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)" [MESH:D002179]
synonym: "zone of skin candidiasis" EXACT [MONDO:patterns/location]
xref: DOID:0080161 {source="MONDO:equivalentTo"}
xref: MESH:D002179 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0080161"}
xref: UMLS:C0006846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
is_a: MONDO:0002026 {source="DOID:0080161", source="MESH:D002179", source="MONDO:Redundant", source="OWLReasoner:2017"} ! candidiasis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch DOID:0080161
property_value: exactMatch http://identifiers.org/mesh/D002179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006846

[Term]
id: MONDO:0000880
name: obsolete lupus nephritis
is_obsolete: true
replaced_by: MONDO:0005556

[Term]
id: MONDO:0000881
name: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
def: "A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity." [NCIT:C84270]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1" EXACT [NCIT:C84270]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [DOID:0080164]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2" EXACT [DOID:0080164, NCIT:C84270]
synonym: "myeloid/lymphoid neoplasms with eosinophilia and Gene rearrangement" EXACT [NCIT:C84270]
synonym: "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2" EXACT [NCIT:C84270]
xref: DOID:0080164 {source="MONDO:equivalentTo"}
xref: NCIT:C84270 {source="DOID:0080164", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2827356 {source="DOID:0080164", source="NCIT:C84270", source="MONDO:equivalentTo"}
is_a: MONDO:0044881 {source="NCIT:C84270"} ! hematopoietic and lymphoid cell neoplasm
relationship: excluded_subClassOf MONDO:0005170 {source="DOID:0080164"} ! myeloid neoplasm
property_value: exactMatch DOID:0080164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2827356
property_value: exactMatch NCIT:C84270

[Term]
id: MONDO:0000882
name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
def: "Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia." [NCIT:P378]
synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [DOID:0080165, NCIT:C84275]
synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" EXACT [NCIT:C84275]
synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" RELATED [NCIT:C84275]
xref: DOID:0080165 {source="MONDO:equivalentTo"}
xref: ICDO:9965/3 {source="NCIT:C84275"}
xref: NCIT:C84275 {source="DOID:0080165", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:MLNPDGFRA {source="MONDO:equivalentTo"}
xref: UMLS:C2827360 {source="MONDO:equivalentTo", source="NCIT:C84275", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000881 {source="DOID:0080165", source="NCIT:C84275"} ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
property_value: exactMatch DOID:0080165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2827360
property_value: exactMatch NCIT:C84275

[Term]
id: MONDO:0000883
name: myeloid neoplasms associated with PDGFRB rearrangement
def: "Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia." [NCIT:P378]
synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [DOID:0080166, NCIT:C84276]
synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" RELATED [NCIT:C84276]
xref: DOID:0080166 {source="MONDO:equivalentTo"}
xref: ICDO:9966/3 {source="NCIT:C84276"}
xref: NCIT:C84276 {source="DOID:0080166", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:MLNPDGFRB {source="MONDO:equivalentTo"}
xref: UMLS:C2827361 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000881 {source="DOID:0080166", source="NCIT:C84276"} ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
property_value: exactMatch DOID:0080166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2827361
property_value: exactMatch NCIT:C84276

[Term]
id: MONDO:0000884
name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
comment: Editor note: check relation to MONDO:0007844
xref: DOID:0080167 {source="MONDO:equivalentTo"}
is_a: MONDO:0000881 {source="DOID:0080167"} ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
property_value: exactMatch DOID:0080167

[Term]
id: MONDO:0000885
name: obsolete cloacal exstrophy
is_obsolete: true
replaced_by: MONDO:0009774

[Term]
id: MONDO:0000886
name: obsolete meningococcal meningitis
is_obsolete: true
replaced_by: MONDO:0006852

[Term]
id: MONDO:0000887
name: obsolete hepatic veno-occlusive disease
is_obsolete: true
replaced_by: MONDO:0019514

[Term]
id: MONDO:0000888
name: gastrointestinal mucositis
def: "Inflammation of the mucous membranes lining the gastrointestinal tract." [NCIT:C3853]
synonym: "gastrointestinal system mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gastrointestinal system mucosaitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of gastrointestinal system mucosa" EXACT []
synonym: "mucositis" RELATED [DOID:0080178]
xref: COHD:437915 {source="MONDO:equivalentTo"}
xref: DOID:0080178 {source="MONDO:equivalentTo"}
xref: ICD9:538 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D052016 {source="DOID:0080178", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3853 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.10"}
xref: SCTID:95518006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.16"}
xref: UMLS:C0521585 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3853"}
is_a: MONDO:0004335 {source="DOID:0080178", source="MESH:D052016/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease
is_a: MONDO:0020579 ! mucositis
property_value: exactMatch DOID:0080178
property_value: exactMatch http://identifiers.org/mesh/D052016
property_value: exactMatch http://identifiers.org/snomedct/95518006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521585
property_value: exactMatch NCIT:C3853

[Term]
id: MONDO:0000889
name: haemophilus meningitis
def: "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." [MESH:D008583]
synonym: "Haemophilus influenzae bacterial meningitis" EXACT [] {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000955"}
synonym: "Haemophilus influenzae caused bacterial meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: COHD:437538 {source="MONDO:equivalentTo"}
xref: DOID:0080179 {source="MONDO:equivalentTo"}
xref: EFO:1000955 {source="MONDO:equivalentTo"}
xref: ICD10:G00.0 {source="DOID:0080179"}
xref: ICD9:320.0 {source="MONDO:equivalentTo", source="DOID:0080179", source="i2s"}
xref: MedDRA:10018953 {source="EFO:1000955"}
xref: MESH:D008583 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:0080179", source="MONDO:ontobio", source="EFO:1000955"}
xref: MONDO:0006775 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:192643004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:5900006 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006670 {source="DOID:0080179", source="MESH:D008583", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis
is_a: MONDO:0006926 ! haemophilus infectious disease
property_value: closeMatch DOID:10803
property_value: closeMatch http://identifiers.org/meddra/10018953
property_value: exactMatch DOID:0080179
property_value: exactMatch http://identifiers.org/mesh/D008583
property_value: exactMatch http://identifiers.org/snomedct/192643004
property_value: exactMatch http://identifiers.org/snomedct/5900006

[Term]
id: MONDO:0000890
name: Zika virus congenital syndrome
def: "A congenital birth syndrome that arises from materal Zika infection." [https://www.cdc.gov/pregnancy/zika/testing-follow-up/zika-syndrome-birth-defects.html]
synonym: "ZIKV congenital infection" EXACT [DOID:0080180]
xref: DOID:0080180 {source="MONDO:equivalentTo"}
is_a: MONDO:0000839 {source="https://www.cdc.gov/pregnancy/zika/testing-follow-up/zika-syndrome-birth-defects.html"} ! congenital abnormality
is_a: MONDO:0021670 ! post-infectious syndrome
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0000839 ! congenital abnormality
intersection_of: disease_arises_from_feature MONDO:0018661 ! Zika virus infectious disease
relationship: disease_arises_from_feature MONDO:0018661 ! Zika virus infectious disease
property_value: exactMatch DOID:0080180

[Term]
id: MONDO:0000891
name: mixed fibrolamellar hepatocellular carcinoma
def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." [DOID:0080182, https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/]
xref: DOID:0080182 {source="MONDO:equivalentTo"}
is_a: MONDO:0006210 {source="DOID:0080182", source="MONDOLEX:0000891"} ! fibrolamellar hepatocellular carcinoma
property_value: exactMatch DOID:0080182

[Term]
id: MONDO:0000892
name: colon medullary carcinoma
def: "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C60641]
synonym: "colon medullary carcinoma" EXACT [NCIT:C60641]
synonym: "medullary carcinoma of the colon" RELATED [ONCOTREE:CMC]
synonym: "medullary colon carcinoma" RELATED [DOID:0080183]
xref: DOID:0080183 {source="MONDO:equivalentTo"}
xref: NCIT:C60641 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CMC {source="MONDO:equivalentTo"}
xref: UMLS:C1880119 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C60641"}
is_a: MONDO:0002271 {source="NCIT:C60641"} ! colon adenocarcinoma
property_value: exactMatch DOID:0080183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1880119
property_value: exactMatch NCIT:C60641

[Term]
id: MONDO:0000893
name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
def: "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." [NCIT:C7270]
synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [DOID:0080184]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [DOID:0080184]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar carcinoma" EXACT [NCIT:C7270]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma" EXACT [NCIT:C7270]
synonym: "mixed mucinous and non-mucinous bronchoalveolar lung carcinoma" EXACT [NCIT:C7270]
xref: DOID:0080184 {source="MONDO:equivalentTo"}
xref: ICDO:8254/3 {source="NCIT:C7270"}
xref: NCIT:C7270 {source="MONDO:kboom-pr-1.00/0.91/29.58", source="MONDO:equivalentTo"}
xref: UMLS:C1266036 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7270"}
is_a: MONDO:0004991 {source="DOID:0080184", source="MONDOLEX:0000893"} ! minimally invasive lung adenocarcinoma
property_value: exactMatch DOID:0080184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266036
property_value: exactMatch NCIT:C7270

[Term]
id: MONDO:0000894
name: mucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." [DOID:0080185, PMID:16463270]
xref: DOID:0080185 {source="MONDO:equivalentTo"}
is_a: MONDO:0004991 {source="DOID:0080185", source="MONDO:Entailed", source="MONDO:Redundant"} ! minimally invasive lung adenocarcinoma
is_a: MONDO:0027772 ! lung colloid adenocarcinoma
intersection_of: MONDO:0004991 ! minimally invasive lung adenocarcinoma
intersection_of: MONDO:0024338 ! mucinous neoplasm
property_value: exactMatch DOID:0080185

[Term]
id: MONDO:0000895
name: nonmucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." [DOID:0080186, PMID:17616987]
xref: DOID:0080186 {source="MONDO:equivalentTo"}
is_a: MONDO:0004991 {source="DOID:0080186"} ! minimally invasive lung adenocarcinoma
property_value: exactMatch DOID:0080186

[Term]
id: MONDO:0000896
name: obsolete chronic neutrophilic leukemia
is_obsolete: true
replaced_by: MONDO:0006148

[Term]
id: MONDO:0000897
name: obsolete chronic myelomonocytic leukemia
is_obsolete: true
replaced_by: MONDO:0020311

[Term]
id: MONDO:0000898
name: malignant hemangioma
def: "A malignant form of hemangioma." [MONDO:patterns/malignant]
comment: Editor note: hemangiomas currently classified as benign. Consider obsoleting these
synonym: "hemangioma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0080189 {source="MONDO:equivalentTo"}
xref: UMLS:C0474836 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="MONDO:cjm"} ! hemangioma
property_value: exactMatch DOID:0080189
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474836

[Term]
id: MONDO:0000899
name: obsolete malignant epithelioid hemangioendothelioma
is_obsolete: true
replaced_by: MONDO:0015523

[Term]
id: MONDO:0000900
name: obsolete PTEN hamartoma tumor syndrome
is_obsolete: true
replaced_by: MONDO:0017623

[Term]
id: MONDO:0000901
name: relapsed/refractory diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." [DOID:0080192, PMID:22160081]
xref: DOID:0080192 {source="MONDO:equivalentTo"}
is_a: MONDO:0018905 {source="DOID:0080192"} ! diffuse large B-cell lymphoma
property_value: exactMatch DOID:0080192

[Term]
id: MONDO:0000902
name: agenesis of the corpus callosum with peripheral neuropathy
def: "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." [Orphanet:1496]
subset: ordo_disease {source="Orphanet:1496"}
synonym: "ACCPN" RELATED [MONDO:Lexical, OMIM:218000]
synonym: "agenesis of corpus callosum with neuronopathy" RELATED [GARD:0001537]
synonym: "agenesis of corpus callosum with peripheral neuropathy" RELATED [GARD:0001537]
synonym: "agenesis of corpus callosum with polyneuropathy" RELATED [GARD:0001537]
synonym: "agenesis of the corpus callosum with peripheral neuropathy" EXACT [DOID:0060600, MONDO:Lexical, OMIM:218000]
synonym: "agenesis of the corpus callosum with peripheral neuropathy; ACCPN" RELATED [OMIM:218000]
synonym: "Andermann syndrome" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496]
synonym: "Charlevoix disease" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496]
synonym: "corpus callosum agenesis neuronopathy" RELATED [GARD:0001537]
synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [DOID:0060600, DOID:0090003]
synonym: "corpus callosum, agenesis of, with neuronopathy" RELATED [OMIM:218000]
synonym: "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" EXACT [MONDO:0009023]
synonym: "HMSN/ACC" RELATED [GARD:0001537]
synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" EXACT [DOID:0060600]
synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [OMIM:218000]
xref: DOID:0060600 {source="MONDO:equivalentTo"}
xref: DOID:0090003 {source="MONDO:equivalentTo"}
xref: GARD:0001537 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="ORDO:1496/attributed", source="ORDO:1496/ntbt"}
xref: MESH:C536446 {source="ORDO:1496/e", source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218000 {source="ORDO:1496/e", source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:218000"}
xref: SCTID:702439002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0795950 {source="ORDO:1496/e", source="MEDGEN:kboom-pr97-c99", source="Orphanet:1496", source="NCBI:mim2gene_medline", source="DOID:0060600", source="MONDO:equivalentTo", source="OMIM:218000"}
is_a: MONDO:0016131 {source="Orphanet:1496"} ! spinal muscular atrophy associated with central nervous system anomaly
is_a: MONDO:0017122 {source="Orphanet:1496"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: exactMatch DOID:0060600
property_value: exactMatch DOID:0090003
property_value: exactMatch http://identifiers.org/mesh/C536446
property_value: exactMatch http://identifiers.org/omim/218000
property_value: exactMatch http://identifiers.org/snomedct/702439002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795950
property_value: exactMatch Orphanet:1496

[Term]
id: MONDO:0000903
name: myoclonus-dystonia syndrome
def: "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." [Orphanet:36899]
synonym: "alcohol-responsive dystonia" RELATED [MESH:C536096]
synonym: "dystonia 11" RELATED [GARD:0007139, MESH:C536096]
synonym: "dystonia 11, myoclonic" RELATED [MESH:C536096]
synonym: "dystonia with myoclonus" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "dystonia, alcohol responsive" RELATED [GARD:0007139]
synonym: "dystonia, alcohol-responsive" RELATED [MESH:C536096]
synonym: "dystonia-11, myoclonic" RELATED [GARD:0007139]
synonym: "DYT-SGCE" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT11" RELATED [MESH:C536096]
synonym: "Hereditary essential myoclonus" RELATED [MESH:C536096]
synonym: "hereditary essential myoclonus" EXACT [Orphanet:36899]
synonym: "myoclonic dystonia" EXACT [DOID:0090033]
synonym: "myoclonic dystonia" RELATED [MESH:C536096]
synonym: "myoclonus, hereditary essential" RELATED [MESH:C536096]
synonym: "myoclonus-Dystonia" RELATED [MESH:C536096]
synonym: "myoclonus-dystonia" RELATED [GARD:0007139]
synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096]
xref: DOID:0090033 {source="MONDO:equivalentTo"}
xref: GARD:0007139 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.1 {source="ORDO:36899/attributed", source="ORDO:36899/ntbt"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536096 {source="MONDO:equivalentTo", source="ORDO:36899/e"}
xref: Orphanet:36899 {source="DOID:0090034", source="MONDO:equivalentTo", source="OMIM:159900"}
xref: SCTID:439732004 {source="MONDO:kboom-pr-0.95/0.75/1.92", source="MONDO:equivalentTo"}
xref: UMLS:C1834570 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:36899/e"}
is_a: MONDO:0017651 {source="Orphanet:36899"} ! primary myoclonus
is_a: MONDO:0018329 {source="Orphanet:36899"} ! persistent combined dystonia
property_value: exactMatch DOID:0090033
property_value: exactMatch http://identifiers.org/mesh/C536096
property_value: exactMatch http://identifiers.org/snomedct/439732004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834570
property_value: exactMatch Orphanet:36899

[Term]
id: MONDO:0000904
name: complex cortical dysplasia with other brain malformations
synonym: "CDCBM" EXACT [DOID:0090131]
synonym: "cortical dysplasia, complex, with other brain malformations" EXACT [OMIMPS:614039]
xref: DOID:0090131 {source="MONDO:equivalentTo"}
xref: OMIMPS:614039 {source="DOID:0090131", source="DC:0000498", source="MONDO:equivalentTo"}
xref: UMLS:CN228165 {source="MONDO:equivalentTo"}
is_a: MONDO:0015572 ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch DOID:0090131
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228165

[Term]
id: MONDO:0000905
name: obsolete cortisone reductase deficiency
is_obsolete: true
replaced_by: MONDO:0000193

[Term]
id: MONDO:0000906
name: obsolete Alzheimer disease 5
synonym: "obsolete Alzheimer's disease 5" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0011194

[Term]
id: MONDO:0000907
name: obsolete amelogenesis imperfecta type 1C
is_obsolete: true
replaced_by: MONDO:0008770

[Term]
id: MONDO:0000908
name: arrhythmogenic right ventricular dysplasia 13
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [DOID:0110084]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 13" EXACT [DOID:0110084, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 13" EXACT [MONDO:0014279, MONDO:Lexical, OMIM:615616]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 13; ARVD13" RELATED [OMIM:615616]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 13" EXACT [MONDORULE:2, OMIM:615616]
synonym: "ARVC13" EXACT [DOID:0110084]
synonym: "ARVD13" EXACT [DOID:0110084, MONDO:Lexical, OMIM:615616]
synonym: "CTNNA3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [DOID:0110084]
xref: DOID:0110084 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110084"}
xref: OMIM:615616 {source="MONDO:equivalentTo"}
xref: UMLS:C3810138 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615616"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110084
property_value: exactMatch http://identifiers.org/omim/615616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810138

[Term]
id: MONDO:0000909
name: Bartter disease type 4B
def: "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." [DOID:0110146, PMID:15044642]
synonym: "BARTS4B" EXACT [DOID:0110146]
synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:613090]
synonym: "Bartter syndrome, type 4B" EXACT [MONDO:0013126, OMIM:613090]
synonym: "Bartter syndrome, type 4b, digenic" EXACT [DOID:0110146]
synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" RELATED [OMIM:613090]
synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness; BARTS4B" RELATED [OMIM:613090]
synonym: "neonatal Bartter syndrome type 4B with sensorineural deafness" EXACT [DOID:0110146]
xref: DOID:0110146 {source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="DOID:0110146"}
xref: OMIM:613090 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="DOID:0110146"}
xref: UMLS:C2751312 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:613090"}
is_a: MONDO:0019524 {source="MONDOLEX:0000909", source="Orphanet:xref"} ! infantile Bartter syndrome with sensorineural deafness
property_value: exactMatch DOID:0110146
property_value: exactMatch http://identifiers.org/omim/613090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751312

[Term]
id: MONDO:0000910
name: retinitis pigmentosa 6
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2." [DOID:0110413, PMID:2300556]
subset: gard_rare {source="GARD:0010377"}
synonym: "retinitis pigmentosa 6" EXACT [MONDO:Lexical, OMIM:312612]
synonym: "retinitis pigmentosa 6; RP6" RELATED [OMIM:312612]
synonym: "retinitis pigmentosa type 6" EXACT [DOID:0110413, MONDORULE:1]
synonym: "retinitis pigmentosa, X-linked recessive, 6" RELATED [OMIM:312612]
synonym: "RP 6" RELATED [GARD:0010377]
synonym: "RP6" EXACT [DOID:0110413, MONDO:0010724, MONDO:Lexical, OMIM:312612]
xref: DOID:0110413 {source="MONDO:equivalentTo"}
xref: GARD:0010377 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110413", source="MONDO:relatedTo"}
xref: MESH:C564065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312612 {source="DOID:0110413", source="MONDO:equivalentTo"}
xref: UMLS:C1839368 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312612"}
is_a: MONDO:0019200 {source="DC-OMIM:312612", source="DOID:0110413", source="MESH:C564065", source="OMIM:312612"} ! retinitis pigmentosa
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch DOID:0110413
property_value: exactMatch http://identifiers.org/mesh/C564065
property_value: exactMatch http://identifiers.org/omim/312612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839368
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6 xsd:anyURI {source="GARD:0010377"}

[Term]
id: MONDO:0000911
name: obsolete dilated cardiomyopathy 1T
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." [MONDO:patterns/disease_series_by_gene]
comment: OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists.
synonym: "cardiomyopathy, dilated, 1T" EXACT [MONDO:0013399, MONDO:Lexical, OMIM:613740]
synonym: "cardiomyopathy, dilated, 1T; CMD1T" RELATED [OMIM:613740]
synonym: "cardiomyopathy, dilated, type 1T" EXACT [MONDORULE:4, OMIM:613740]
synonym: "CMD1T" EXACT [DOID:0110452, MONDO:Lexical, OMIM:613740]
synonym: "dilated cardiomyopathy type 1T" EXACT [DOID:0110452, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TMPO" EXACT [MONDO:design_pattern]
synonym: "moved to 115200" RELATED [OMIM:613740]
synonym: "TMPO familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110452 {source="MONDO:equivalentObsolete"}
xref: MESH:C566052 {source="MONDO:equivalentObsolete"}
xref: OMIM:613740 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3151039 {source="OMIM:613740", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"}
property_value: exactMatch DOID:0110452
property_value: exactMatch http://identifiers.org/mesh/C566052
property_value: exactMatch http://identifiers.org/omim/613740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151039
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1675 xsd:string
is_obsolete: true

[Term]
id: MONDO:0000912
name: autosomal recessive nonsyndromic deafness 5
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12." [DOID:0110507, PMID:8944017]
synonym: "autosomal recessive deafness 5" EXACT [DOID:0110507]
synonym: "autosomal recessive nonsyndromic deafness type 5" EXACT [DOID:0110507, MONDORULE:1]
synonym: "deafness, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:600792]
synonym: "deafness, autosomal recessive 5; DFNB5" RELATED [OMIM:600792]
synonym: "DFNB5" EXACT [DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792]
synonym: "neurosensory nonsyndromic recessive deafness 5" RELATED [OMIM:600792]
xref: DOID:0110507 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110507"}
xref: MESH:C563444 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600792 {source="DOID:0110507", source="MONDO:equivalentTo"}
xref: UMLS:C1833319 {source="OMIM:600792", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:600792", source="DOID:0110507", source="OMIM:600792"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110507
property_value: exactMatch http://identifiers.org/mesh/C563444
property_value: exactMatch http://identifiers.org/omim/600792
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833319

[Term]
id: MONDO:0000913
name: hereditary spherocytosis type 2
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 2" EXACT [DOID:0110917]
synonym: "hereditary spherocytosis caused by mutation in SPTB" EXACT [MONDO:design_pattern]
synonym: "hereditary spherocytosis type 2" EXACT [MONDO:0014721]
synonym: "HS2" EXACT [DOID:0110917]
synonym: "SPH2" EXACT [DOID:0110917, OMIM:616649]
synonym: "spherocytosis, hereditary, 2" RELATED [OMIM:616649]
synonym: "spherocytosis, type 2" EXACT [OMIM:616649]
synonym: "spherocytosis, type 2; SPH2" RELATED [OMIM:616649]
synonym: "SPTB hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110917 {source="MONDO:equivalentTo"}
xref: OMIM:616649 {source="MONDO:equivalentTo"}
xref: UMLS:C2674219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019350 {source="DOID:0110917", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
property_value: exactMatch DOID:0110917
property_value: exactMatch http://identifiers.org/omim/616649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674219

[Term]
id: MONDO:0000914
name: CADASIL 1
def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." [DOID:0111035, PMID:10476042, PMID:8878478]
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [DOID:0111035]
synonym: "CADASIL" RELATED [OMIM:125310]
synonym: "CADASIL type 1" EXACT [DOID:0111035, MONDORULE:1]
synonym: "CADASIL1" RELATED [OMIM:125310]
synonym: "Casil" RELATED [OMIM:125310]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" RELATED [OMIM:125310]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; CADASIL1" RELATED [OMIM:125310]
synonym: "dementia, hereditary multi-infarct type" RELATED [OMIM:125310]
xref: DOID:0111035 {source="MONDO:equivalentTo"}
xref: ICD10:F01.1 {source="DOID:0111035"}
xref: OMIM:125310 {source="Orphanet:136", source="MONDO:equivalentTo", source="ORDO:136/e", source="DOID:0111035"}
is_a: MONDO:0007432 {source="DOID:0111035", source="MONDOLEX:0000914", source="OMIM:125310"} ! CADASIL
property_value: exactMatch DOID:0111035
property_value: exactMatch http://identifiers.org/omim/125310

[Term]
id: MONDO:0000916
name: intestinal infectious disease
def: "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "bacterial enteritis" EXACT [DOID:100]
xref: COHD:198678 {source="MONDO:equivalentTo"}
xref: DOID:100 {source="MONDO:equivalentTo"}
xref: ICD10:A00-A09 {source="DOID:100"}
xref: ICD10:A00.A09 {source="MONDO:equivalentTo"}
xref: ICD9:001-009.99 {source="DOID:100"}
xref: ICD9:008.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:266071000 {source="MONDO:kboom-pr-0.88/0.74/0.14", source="MONDO:equivalentTo", source="DOID:100"}
xref: UMLS:C0152516 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0178238 {source="MONDO:equivalentTo", source="DOID:100"}
is_a: MONDO:0000888 ! gastrointestinal mucositis
is_a: MONDO:0002269 ! gastroenteritis
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://identifiers.org/snomedct/127322007
property_value: closeMatch http://identifiers.org/snomedct/186086003
property_value: closeMatch http://identifiers.org/snomedct/186171006
property_value: closeMatch http://identifiers.org/snomedct/187266003
property_value: closeMatch http://identifiers.org/snomedct/266172005
property_value: closeMatch http://identifiers.org/snomedct/266180003
property_value: exactMatch DOID:100
property_value: exactMatch http://identifiers.org/snomedct/266071000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178238

[Term]
id: MONDO:0000917
name: obsolete thyroid lymphoma
is_obsolete: true
replaced_by: MONDO:0019962

[Term]
id: MONDO:0000918
name: endometritis
def: "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." [NCIT:P378]
synonym: "endometrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endometrium" EXACT []
synonym: "uterine infection" EXACT [NCIT:C26764]
xref: DOID:1002 {source="MONDO:equivalentTo"}
xref: EFO:1001312 {source="MONDO:equivalentTo"}
xref: MESH:D004716 {source="DOID:1002", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26764 {source="DOID:1002", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:78623009 {source="DOID:1002", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014179 {source="DOID:1002", source="MONDO:equivalentTo", source="NCIT:C26764"}
is_a: MONDO:0000931 {source="DOID:1002", source="MONDO:Redundant", source="NCIT:C26764", source="linkedlifedata"} ! endometrial disease
is_a: MONDO:0020579 ! mucositis
property_value: closeMatch http://identifiers.org/snomedct/155975003
property_value: closeMatch http://identifiers.org/snomedct/198192000
property_value: closeMatch http://identifiers.org/snomedct/266652001
property_value: closeMatch http://identifiers.org/snomedct/266653006
property_value: exactMatch DOID:1002
property_value: exactMatch http://identifiers.org/mesh/D004716
property_value: exactMatch http://identifiers.org/snomedct/78623009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014179
property_value: exactMatch NCIT:C26764

[Term]
id: MONDO:0000919
name: ampulla of vater cancer
def: "A primary or metastatic malignant neoplasm involving the ampulla of Vater." [NCIT:C3536]
synonym: "cancer of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer]
synonym: "hepatopancreatic ampulla cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ampulla of Vater neoplasm" EXACT [NCIT:C3536]
synonym: "malignant ampulla of Vater tumor" EXACT [NCIT:C3536]
synonym: "malignant hepatopancreatic ampulla neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumor of ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumor of the ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumour of ampulla of vater" EXACT [DOID:10020]
xref: DOID:10020 {source="MONDO:equivalentTo"}
xref: ICD10:C24.1 {source="DOID:10020"}
xref: ICD9:156.2 {source="DOID:10020"}
xref: NCIT:C3536 {source="MONDO:equivalentTo", source="DOID:10020"}
xref: SCTID:363417006 {source="MONDO:equivalentTo", source="DOID:10020"}
xref: UMLS:C0153454 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:10020", source="NCIT:C3536"}
is_a: MONDO:0000920 {source="DOID:10020", source="MONDO:Redundant", source="linkedlifedata"} ! duodenum cancer
is_a: MONDO:0000921 {source="MONDO:Redundant", source="NCIT:C3536", source="linkedlifedata"} ! ampulla of vater neoplasm
is_a: MONDO:0021321 ! malignant tumor of extrahepatic bile duct
property_value: closeMatch http://identifiers.org/snomedct/93668007
property_value: exactMatch DOID:10020
property_value: exactMatch http://identifiers.org/snomedct/363417006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153454
property_value: exactMatch NCIT:C3536

[Term]
id: MONDO:0000920
name: duodenum cancer
def: "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9328]
synonym: "cancer of duodenum" EXACT [DOID:10021, MONDO:patterns/cancer, NCIT:C4803]
synonym: "duodenal cancer" EXACT [DOID:10021]
synonym: "duodenal neoplasm" EXACT EXCLUDE [DOID:10021]
synonym: "duodenum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant duodenal neoplasm" EXACT [NCIT:C9328]
synonym: "malignant duodenal tumor" EXACT [NCIT:C9328]
synonym: "malignant duodenum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of duodenum" EXACT [MONDO:patterns/cancer, NCIT:C9328]
synonym: "malignant neoplasm of the duodenum" EXACT [NCIT:C9328]
synonym: "malignant tumor of duodenum" EXACT [NCIT:C9328]
synonym: "malignant tumor of the duodenum" EXACT [NCIT:C9328]
xref: DOID:10021 {source="MONDO:equivalentTo"}
xref: ICD10:C17.0 {source="DOID:10021"}
xref: ICD9:152.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10021"}
xref: MESH:D004379 {source="MONDO:equivalentTo", source="DOID:10021", source="MONDO:ontobio"}
xref: NCIT:C9328 {source="MONDO:equivalentTo", source="DOID:10021"}
xref: SCTID:363403002 {source="MONDO:kboom-pr-1.00/0.81/10.73", source="MONDO:equivalentTo", source="DOID:10021"}
is_a: MONDO:0000956 {source="DOID:10021", source="MONDO:Redundant", source="NCIT:C9328"} ! small intestine cancer
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C9328", source="linkedlifedata"} ! tumor of duodenum
property_value: closeMatch http://identifiers.org/snomedct/154555009
property_value: closeMatch http://identifiers.org/snomedct/269615000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153426
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0541912
property_value: exactMatch DOID:10021
property_value: exactMatch http://identifiers.org/mesh/D004379
property_value: exactMatch http://identifiers.org/snomedct/363403002
property_value: exactMatch NCIT:C9328

[Term]
id: MONDO:0000921
name: ampulla of vater neoplasm
def: "A benign or malignant neoplasm involving the ampulla of Vater." [NCIT:C4443]
synonym: "ampulla of Vater tumor" EXACT [NCIT:C4443]
synonym: "AMPULLAOFVATER" RELATED [ONCOTREE:AMPULLAOFVATER]
synonym: "hepatopancreatic ampulla neoplasm" EXACT []
synonym: "hepatopancreatic ampulla neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hepatopancreatic ampulla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of ampulla of Vater" EXACT [NCIT:C4443]
synonym: "neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the ampulla of Vater" EXACT [NCIT:C4443]
synonym: "tumor of ampulla of Vater" EXACT [NCIT:C4443]
synonym: "tumor of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the ampulla of Vater" EXACT [DOID:10022, NCIT:C4443]
xref: DOID:10022 {source="MONDO:equivalentTo"}
xref: NCIT:C4443 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:10022"}
xref: ONCOTREE:AMPULLAOFVATER {source="MONDO:equivalentTo"}
xref: SCTID:126858004 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo", source="DOID:10022"}
xref: UMLS:C0345916 {source="MONDO:equivalentTo", source="NCIT:C4443", source="DOID:10022"}
is_a: MONDO:0006709 ! common bile duct neoplasm
is_a: MONDO:0021375 {source="MONDO:Redundant", source="linkedlifedata"} ! tumor of duodenum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042425
property_value: closeMatch NCIT:C13011
property_value: exactMatch DOID:10022
property_value: exactMatch http://identifiers.org/snomedct/126858004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345916
property_value: exactMatch NCIT:C4443

[Term]
id: MONDO:0000922
name: pelvic inflammatory disease
def: "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." [NCIT:C3889]
synonym: "disease (PID), pelvic inflammatory" RELATED [NCIT:C3889]
synonym: "inflammatory disease (PID), pelvic" RELATED [NCIT:C3889]
synonym: "pelvic infection" RELATED [NCIT:C3889]
synonym: "pelvic inflammatory disease" EXACT [NCIT:C3889]
synonym: "pelvic inflammatory disease, (PID)" RELATED [NCIT:C3889]
synonym: "PID" EXACT [DOID:1003, MTHICD9_2006:614.9]
synonym: "PID, pelvic inflammatory disease" RELATED [NCIT:C3889]
xref: DOID:1003 {source="MONDO:equivalentTo"}
xref: EFO:1001388 {source="MONDO:equivalentTo"}
xref: ICD10:N70-N77 {source="DOID:1003"}
xref: ICD10:N73.9 {source="DOID:1003"}
xref: ICD9:614-616.99 {source="DOID:1003"}
xref: ICD9:614.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:614.9 {source="DOID:1003", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000292 {source="DOID:1003", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3889 {source="DOID:1003", source="MONDO:equivalentTo"}
xref: SCTID:198130006 {source="DOID:1003", source="MONDO:kboom-pr-1.00/0.77/6.31", source="MONDO:equivalentTo"}
xref: UMLS:C0242172 {source="DOID:1003", source="MONDO:equivalentTo", source="NCIT:C3889"}
is_a: MONDO:0002263 {source="DOID:1003", source="MESH:D000292/inferred", source="MONDO:Redundant", source="NCIT:C3889/inferred"} ! female reproductive system disease
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/155967009
property_value: closeMatch http://identifiers.org/snomedct/155968004
property_value: closeMatch http://identifiers.org/snomedct/155974004
property_value: closeMatch http://identifiers.org/snomedct/155986001
property_value: closeMatch http://identifiers.org/snomedct/198131005
property_value: closeMatch http://identifiers.org/snomedct/198178006
property_value: closeMatch http://identifiers.org/snomedct/198244005
property_value: closeMatch http://identifiers.org/snomedct/198570007
property_value: closeMatch http://identifiers.org/snomedct/266584000
property_value: closeMatch http://identifiers.org/snomedct/266648001
property_value: closeMatch http://identifiers.org/snomedct/266651008
property_value: closeMatch http://identifiers.org/snomedct/37518008
property_value: exactMatch DOID:1003
property_value: exactMatch http://identifiers.org/mesh/D000292
property_value: exactMatch http://identifiers.org/snomedct/198130006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242172
property_value: exactMatch NCIT:C3889

[Term]
id: MONDO:0000923
name: interstitial emphysema
def: "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." [NCIT:P378]
synonym: "interstitial emphysema of lung" EXACT [NCIT:C34571]
synonym: "pie" EXACT [NCIT:C34571]
synonym: "pulmonary interstitial emphysema" EXACT [NCIT:C34571]
xref: DOID:10030 {source="MONDO:equivalentTo"}
xref: ICD10:J98.2 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: ICD9:518.1 {source="DOID:10030"}
xref: NCIT:C34571 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: SCTID:77690003 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: UMLS:C1370824 {source="MONDO:equivalentTo", source="DOID:10030"}
is_a: MONDO:0004849 {source="DOID:10030", source="NCIT:C34571", source="linkedlifedata"} ! pulmonary emphysema
property_value: closeMatch http://identifiers.org/snomedct/11211003
property_value: closeMatch http://identifiers.org/snomedct/390898003
property_value: exactMatch DOID:10030
property_value: exactMatch http://identifiers.org/snomedct/77690003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370824
property_value: exactMatch NCIT:C34571

[Term]
id: MONDO:0000924
name: compensatory emphysema
xref: COHD:261895 {source="MONDO:equivalentTo"}
xref: DOID:10031 {source="MONDO:equivalentTo"}
xref: ICD10:J98.3 {source="MONDO:equivalentTo", source="DOID:10031"}
xref: ICD9:518.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:10031"}
xref: SCTID:33325001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10031"}
xref: UMLS:C0155918 {source="MONDO:equivalentTo", source="DOID:10031"}
is_a: MONDO:0004849 {source="DOID:10031", source="linkedlifedata"} ! pulmonary emphysema
property_value: exactMatch DOID:10031
property_value: exactMatch http://identifiers.org/snomedct/33325001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155918

[Term]
id: MONDO:0000925
name: hyperlucent lung
def: "A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax." [MESH:D019568]
xref: DOID:10032 {source="MONDO:equivalentTo"}
xref: MESH:D019568 {source="MONDO:equivalentTo", source="DOID:10032", source="MONDO:ontobio"}
xref: UMLS:C0524799 {source="MONDO:equivalentTo", source="DOID:10032"}
is_a: MONDO:0004849 {source="DOID:10032"} ! pulmonary emphysema
property_value: exactMatch DOID:10032
property_value: exactMatch http://identifiers.org/mesh/D019568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524799

[Term]
id: MONDO:0000926
name: eye accommodation disease
def: "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." [https://en.wikipedia.org/wiki/Accommodation_(eye), MONDO:cjm]
synonym: "disorder of accommodation" EXACT []
xref: DOID:10034 {source="MONDO:equivalentTo"}
xref: ICD10:H52.5 {source="DOID:10034"}
xref: ICD9:367.5 {source="DOID:10034"}
xref: SCTID:54552008 {source="MONDO:equivalentTo", source="DOID:10034"}
xref: UMLS:C0152198 {source="MONDO:equivalentTo", source="DOID:10034"}
is_a: MONDO:0005328 {source="DOID:10034"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155137002
property_value: closeMatch http://identifiers.org/snomedct/193631008
property_value: exactMatch DOID:10034
property_value: exactMatch http://identifiers.org/snomedct/54552008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152198

[Term]
id: MONDO:0000927
name: asymptomatic neurosyphilis
xref: COHD:376335 {source="MONDO:equivalentTo"}
xref: DOID:10035 {source="MONDO:equivalentTo"}
xref: ICD10:A52.2 {source="MONDO:equivalentTo", source="DOID:10035"}
xref: ICD9:094.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10035"}
xref: SCTID:37754005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10035"}
xref: UMLS:C0153167 {source="MONDO:equivalentTo", source="DOID:10035"}
is_a: MONDO:0004944 {source="DOID:10035", source="linkedlifedata/inferred"} ! neurosyphilis
property_value: closeMatch http://identifiers.org/mesh/D009494
property_value: exactMatch DOID:10035
property_value: exactMatch http://identifiers.org/snomedct/37754005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153167

[Term]
id: MONDO:0000928
name: eyelid melanoma
def: "A melanoma that arises from the upper or lower eyelid." [NCIT:C4358]
synonym: "eyelid melanoma" EXACT [NCIT:C4358]
synonym: "eyelid melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant eyelid melanoma" EXACT [NCIT:C4358]
synonym: "malignant melanoma of eyelid" EXACT [NCIT:C4358]
synonym: "malignant melanoma of the eyelid" EXACT [NCIT:C4358]
synonym: "melanoma (disease) of eyelid" EXACT []
synonym: "melanoma of eyelid" EXACT [NCIT:C4358]
synonym: "melanoma of the eyelid" EXACT [NCIT:C4358]
xref: DOID:10040 {source="MONDO:equivalentTo"}
xref: ICD9:172.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4358 {source="MONDO:kboom-pr-1.00/0.91/26.13", source="MONDO:equivalentTo", source="DOID:10040"}
xref: SCTID:231834005 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo", source="DOID:10040"}
xref: UMLS:C0339116 {source="MONDO:equivalentTo", source="DOID:10040", source="NCIT:C4358"}
is_a: MONDO:0005012 ! cutaneous melanoma (disease)
is_a: MONDO:0006325 {source="MONDO:Redundant", source="MONDOLEX:0000928", source="NCIT:C4358"} ! ocular melanoma
is_a: MONDO:0021313 {source="MONDO:Redundant", source="NCIT:C4358", source="linkedlifedata"} ! eyelid cancer
property_value: exactMatch DOID:10040
property_value: exactMatch http://identifiers.org/snomedct/231834005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339116
property_value: exactMatch NCIT:C4358

[Term]
id: MONDO:0000929
name: balloon cell malignant melanoma
def: "A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion." [NCIT:P378]
synonym: "balloon cell cutaneous (skin) melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell malignant melanoma of skin" EXACT [NCIT:C4227]
synonym: "balloon cell malignant melanoma of the skin" EXACT [NCIT:C4227]
synonym: "balloon cell malignant skin melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell skin melanoma" EXACT [NCIT:C4227]
xref: DOID:10044 {source="MONDO:equivalentTo"}
xref: ICDO:8722/3 {source="NCIT:C4227"}
xref: NCIT:C4227 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.14", source="DOID:10044"}
xref: SCTID:403922007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10044"}
xref: UMLS:C0334426 {source="MONDO:equivalentTo", source="NCIT:C4227", source="DOID:10044"}
is_a: MONDO:0005012 {source="DOID:10044", source="MONDOLEX:0000929", source="NCIT:C4227"} ! cutaneous melanoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/39274007
property_value: exactMatch DOID:10044
property_value: exactMatch http://identifiers.org/snomedct/403922007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334426
property_value: exactMatch NCIT:C4227

[Term]
id: MONDO:0000930
name: nodular malignant melanoma
def: "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance." [NCIT:P378]
synonym: "nodular cutaneous (skin) melanoma" EXACT [NCIT:C4225]
synonym: "nodular malignant melanoma of skin" EXACT [NCIT:C4225]
synonym: "nodular malignant melanoma of the skin" EXACT [NCIT:C4225]
synonym: "nodular malignant skin melanoma" EXACT [NCIT:C4225]
synonym: "nodular melanoma" EXACT [NCIT:C4225]
synonym: "nodular melanoma (morphologic abnormality)" EXACT [DOID:10047]
xref: DOID:10047 {source="MONDO:equivalentTo"}
xref: EFO:0008515 {source="MONDO:equivalentTo"}
xref: GARD:0009961 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICDO:8721/3 {source="NCIT:C4225"}
xref: NCIT:C4225 {source="MONDO:kboom-pr-1.00/0.91/29.05", source="MONDO:equivalentTo", source="DOID:10047"}
xref: SCTID:254731001 {source="MONDO:equivalentTo", source="DOID:10047"}
xref: UMLS:C0334424 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4225", source="DOID:10047"}
is_a: MONDO:0005012 {source="DOID:10047", source="EFO:0008515", source="MONDOLEX:0000930", source="NCIT:C4225"} ! cutaneous melanoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/2142002
property_value: exactMatch DOID:10047
property_value: exactMatch http://identifiers.org/snomedct/254731001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334424
property_value: exactMatch NCIT:C4225

[Term]
id: MONDO:0000931
name: endometrial disease
def: "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." [NCIT:P378]
synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endometrium" EXACT []
synonym: "disorder of endometrium" EXACT [MONDO:patterns/location_top]
synonym: "disorder of endometrium" RELATED [MONDO:patterns/location_top]
synonym: "endometrial disorder" EXACT []
synonym: "endometrium disease" EXACT [MONDO:patterns/location]
synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1005 {source="MONDO:equivalentTo"}
xref: NCIT:C3504 {source="DOID:1005", source="MONDO:equivalentTo"}
xref: SCTID:418632009 {source="DOID:1005", source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:1005", source="MONDO:Redundant", source="NCIT:C3504", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151622
property_value: exactMatch DOID:1005
property_value: exactMatch http://identifiers.org/snomedct/418632009
property_value: exactMatch NCIT:C3504

[Term]
id: MONDO:0000932
name: obsolete skin amelanotic melanoma
is_obsolete: true
replaced_by: MONDO:0005208

[Term]
id: MONDO:0000933
name: subglottis neoplasm
def: "A benign or malignant neoplasm that affects the subglottic area of the larynx." [NCIT:C4426]
synonym: "neoplasm of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "neoplasm of the subglottis" EXACT [NCIT:C4426]
synonym: "subglottic neoplasm" EXACT [NCIT:C4426]
synonym: "subglottic tumor" EXACT [DOID:10069, NCIT:C4426]
synonym: "subglottis neoplasm" EXACT [NCIT:C4426]
synonym: "subglottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "subglottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "tumor of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "tumor of the subglottis" EXACT [NCIT:C4426]
xref: DOID:10069 {source="MONDO:equivalentTo"}
xref: NCIT:C4426 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:10069"}
xref: SCTID:126696001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.79", source="DOID:10069"}
xref: UMLS:C0345746 {source="MONDO:equivalentTo", source="NCIT:C4426", source="DOID:10069"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C4426", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal neoplasm
property_value: exactMatch DOID:10069
property_value: exactMatch http://identifiers.org/snomedct/126696001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345746
property_value: exactMatch NCIT:C4426

[Term]
id: MONDO:0000934
name: laryngeal leiomyoma
def: "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6027]
synonym: "laryngeal leiomyoma" EXACT [NCIT:C6027]
synonym: "larynx leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6027]
synonym: "leiomyoma of larynx" EXACT [NCIT:C6027]
synonym: "leiomyoma of the larynx" EXACT [NCIT:C6027]
xref: DOID:10070 {source="MONDO:equivalentTo"}
xref: NCIT:C6027 {source="DOID:10070", source="MONDO:equivalentTo"}
xref: UMLS:C1334370 {source="DOID:10070", source="MONDO:equivalentTo", source="NCIT:C6027"}
is_a: MONDO:0001572 {source="DOID:10070", source="MONDO:Redundant", source="NCIT:C6027"} ! leiomyoma
is_a: MONDO:0002354 {source="DOID:10070", source="MONDO:Redundant", source="NCIT:C6027"} ! benign laryngeal neoplasm
property_value: exactMatch DOID:10070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334370
property_value: exactMatch NCIT:C6027

[Term]
id: MONDO:0000935
name: larynx squamous papilloma
def: "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." [NCIT:C7742]
synonym: "laryngeal papilloma" EXACT [NCIT:C7742]
synonym: "larynx papilloma" EXACT [NCIT:C7742]
synonym: "larynx squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "papilloma of larynx" EXACT [NCIT:C7742]
synonym: "papilloma of the larynx" EXACT [NCIT:C7742]
synonym: "squamous papilloma of larynx" EXACT [NCIT:C7742]
synonym: "squamous papilloma of the larynx" EXACT [NCIT:C7742]
xref: DOID:10071 {source="MONDO:equivalentTo"}
xref: NCIT:C7742 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:10071", source="exact-label-match"}
xref: UMLS:C0240164 {source="MONDO:equivalentTo", source="DOID:10071", source="NCIT:C7742"}
is_a: MONDO:0001825 {source="MONDO:Redundant", source="MONDOLEX:0000935", source="NCIT:C7742"} ! squamous papilloma
is_a: MONDO:0002354 {source="DOID:10071", source="MONDO:Redundant", source="NCIT:C7742"} ! benign laryngeal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/269637007
property_value: exactMatch DOID:10071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0240164
property_value: exactMatch NCIT:C7742

[Term]
id: MONDO:0000936
name: syphilitic meningitis
def: "An infectious meningitis caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "meningeal syphilis" RELATED [GARD:0008731]
synonym: "meningitis, syphilitic" RELATED [GARD:0008731]
synonym: "syphilitic aseptic meningitis" RELATED [GARD:0008731]
synonym: "Treponema caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema infectious meningitis" EXACT []
xref: COHD:441228 {source="MONDO:equivalentTo"}
xref: DOID:10073 {source="MONDO:equivalentTo"}
xref: GARD:0008731 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:094.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:10073"}
xref: MESH:C536775 {source="MONDO:equivalentTo", source="DOID:10073", source="MONDO:ontobio"}
xref: SCTID:301086002 {source="MONDO:equivalentTo", source="DOID:10073", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153166 {source="MONDO:equivalentTo", source="DOID:10073"}
is_a: MONDO:0007000 ! Treponema infectious disease
is_a: MONDO:0041825 ! bacterial meningitis caused by gram-negative bacteria
property_value: closeMatch http://identifiers.org/snomedct/14968007
property_value: closeMatch http://identifiers.org/snomedct/186887006
property_value: exactMatch DOID:10073
property_value: exactMatch http://identifiers.org/mesh/C536775
property_value: exactMatch http://identifiers.org/snomedct/301086002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153166

[Term]
id: MONDO:0000937
name: syphilitic encephalitis
def: "An encephalitis caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema encephalitis" EXACT []
xref: DOID:10081 {source="MONDO:equivalentTo"}
xref: ICD9:094.81 {source="DOID:10081", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:26135000 {source="DOID:10081", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153168 {source="DOID:10081", source="MONDO:equivalentTo"}
is_a: MONDO:0007000 ! Treponema infectious disease
is_a: MONDO:0020067 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis
property_value: closeMatch http://identifiers.org/snomedct/192699001
property_value: closeMatch http://identifiers.org/snomedct/192700000
property_value: exactMatch DOID:10081
property_value: exactMatch http://identifiers.org/snomedct/26135000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153168

[Term]
id: MONDO:0000938
name: gastric leiomyoma
def: "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." [NCIT:C3876]
synonym: "gastric leiomyoma" EXACT [NCIT:C3876]
synonym: "leiomyoma of stomach" EXACT [NCIT:C3876]
synonym: "leiomyoma of the stomach" EXACT [DOID:10087, NCIT:C3876]
synonym: "stomach leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:10087 {source="MONDO:equivalentTo"}
xref: NCIT:C3876 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:10087", source="exact-label-match"}
xref: SCTID:276812001 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:10087", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C0238440 {source="MONDO:equivalentTo", source="DOID:10087", source="NCIT:C3876"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3876", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C3876/inferred", source="linkedlifedata"} ! benign neoplasm of stomach
property_value: exactMatch DOID:10087
property_value: exactMatch http://identifiers.org/snomedct/276812001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238440
property_value: exactMatch NCIT:C3876

[Term]
id: MONDO:0000939
name: intracranial abscess
def: "An abscess that is located in the intracranial space." [NCIT:P378]
xref: COHD:435509 {source="MONDO:equivalentTo"}
xref: DOID:10095 {source="MONDO:equivalentTo"}
xref: ICD9:324.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10095"}
xref: NCIT:C34734 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:10095"}
xref: SCTID:27614006 {source="MONDO:equivalentTo", source="DOID:10095", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0021874 {source="MONDO:equivalentTo", source="DOID:10095", source="NCIT:C34734"}
is_a: MONDO:0005227 {source="NCIT:C34734", source="linkedlifedata"} ! abscess
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: closeMatch http://identifiers.org/snomedct/192738001
property_value: closeMatch http://identifiers.org/snomedct/192746000
property_value: exactMatch DOID:10095
property_value: exactMatch http://identifiers.org/snomedct/27614006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021874
property_value: exactMatch NCIT:C34734

[Term]
id: MONDO:0000940
name: trypanosomiasis
def: "Infection with protozoa of the genus trypanosoma." [MESH:D014352]
synonym: "Trypanosoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trypanosoma disease or disorder" EXACT []
synonym: "Trypanosoma infectious disease" EXACT []
synonym: "Trypanosomiases" RELATED [MESH:D014352]
xref: DOID:10113 {source="MONDO:equivalentTo"}
xref: ICD10:B56 {source="MONDO:equivalentTo"}
xref: ICD10:B57.2 {source="DOID:10113"}
xref: ICD9:086 {source="DOID:10113"}
xref: ICD9:086.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:10113"}
xref: MESH:D014352 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10113"}
xref: SCTID:78940002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10113"}
xref: UMLS:C0041227 {source="MONDO:equivalentTo", source="DOID:10113"}
is_a: MONDO:0002428 {source="DOID:10113", source="MESH:D014352/inferred"} ! protozoa infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154375001
property_value: closeMatch http://identifiers.org/snomedct/186819000
property_value: closeMatch http://identifiers.org/snomedct/266205000
property_value: exactMatch DOID:10113
property_value: exactMatch http://identifiers.org/mesh/D014352
property_value: exactMatch http://identifiers.org/snomedct/78940002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041227

[Term]
id: MONDO:0000941
name: eyelid degenerative disease
def: "A neurodegenerative disease that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "neurodegenerative disease of eyelid" EXACT [MONDO:design_pattern]
xref: DOID:10120 {source="MONDO:equivalentTo"}
xref: ICD9:374.50 {source="DOID:10120"}
xref: SCTID:1112003 {source="MONDO:equivalentTo", source="DOID:10120"}
xref: UMLS:C0155209 {source="MONDO:equivalentTo", source="DOID:10120"}
is_a: MONDO:0003382 {source="DOID:10120", source="MONDO:Redundant", source="linkedlifedata"} ! eyelid disease
is_a: MONDO:0004884 ! eye degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193957009
property_value: exactMatch DOID:10120
property_value: exactMatch http://identifiers.org/snomedct/1112003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155209

[Term]
id: MONDO:0000942
name: corneal disease
def: "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." [NCIT:P378]
synonym: "cornea disease" EXACT [MONDO:patterns/location]
synonym: "cornea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "corneal disease" EXACT [NCIT:C26731]
synonym: "corneal disorder" EXACT [NCIT:C26731]
synonym: "disease of cornea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cornea" EXACT []
synonym: "disorder of cornea" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cornea" RELATED [MONDO:patterns/location_top]
xref: DOID:10124 {source="MONDO:equivalentTo"}
xref: ICD10:H18.9 {source="DOID:10124"}
xref: ICD9:371.30 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:371.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:371.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:10124"}
xref: MESH:D003316 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10124"}
xref: NCIT:C26731 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10124"}
xref: SCTID:15250008 {source="MONDO:equivalentTo", source="DOID:10124"}
xref: UMLS:C0010034 {source="MONDO:equivalentTo", source="NCIT:C26731", source="DOID:10124"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0005328 {source="DOID:10124", source="MESH:D003316", source="MONDO:Redundant", source="NCIT:C26731", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155160005
property_value: closeMatch http://identifiers.org/snomedct/193794007
property_value: closeMatch http://identifiers.org/snomedct/193856004
property_value: closeMatch http://identifiers.org/snomedct/267733008
property_value: exactMatch DOID:10124
property_value: exactMatch http://identifiers.org/mesh/D003316
property_value: exactMatch http://identifiers.org/snomedct/15250008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010034
property_value: exactMatch NCIT:C26731

[Term]
id: MONDO:0000943
name: acute hydrops keratoconus
synonym: "acute corneal hydrops" RELATED [http://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm]
synonym: "acute hydrops of cornea" RELATED [http://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm]
synonym: "keratoconus, acute hydrops" EXACT [DOID:10125, ICD9CM_2006:371.62]
xref: DOID:10125 {source="MONDO:equivalentTo"}
xref: ICD9:371.62 {source="DOID:10125", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:111523009 {source="DOID:10125", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0339286 {source="DOID:10125", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DOID:10125", source="linkedlifedata"} ! keratoconus (disease)
property_value: exactMatch DOID:10125
property_value: exactMatch http://identifiers.org/snomedct/111523009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339286

[Term]
id: MONDO:0000944
name: cerebral artery occlusion
xref: COHD:372924 {source="MONDO:equivalentTo"}
xref: DOID:10127 {source="MONDO:equivalentTo"}
xref: ICD9:434 {source="DOID:10127"}
xref: ICD9:434.9 {source="DOID:10127"}
xref: ICD9:434.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:20059004 {source="DOID:10127", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0011057 {source="DOID:10127", source="linkedlifedata"} ! cerebrovascular disorder
is_a: MONDO:0020673 ! arterial occlusion
property_value: closeMatch http://identifiers.org/snomedct/155400001
property_value: closeMatch http://identifiers.org/snomedct/155403004
property_value: closeMatch http://identifiers.org/snomedct/195188006
property_value: closeMatch http://identifiers.org/snomedct/266255008
property_value: closeMatch http://identifiers.org/snomedct/286956007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028790
property_value: exactMatch DOID:10127
property_value: exactMatch http://identifiers.org/snomedct/20059004

[Term]
id: MONDO:0000945
name: venous insufficiency (disease)
def: "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." [MESH:D014689]
synonym: "peripheral venous insufficiency" NARROW [DOID:10128]
synonym: "venous insufficiency" EXACT [MONDO:ambiguous]
xref: COHD:321596 {source="MONDO:equivalentTo"}
xref: DOID:10128 {source="MONDO:equivalentTo"}
xref: HP:0005293 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:459.81 {source="DOID:10128", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014689 {source="DOID:10128", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:20696009 {source="DOID:10128", source="MONDO:kboom-pr-0.95/0.75/1.93", source="MONDO:equivalentTo"}
xref: UMLS:C0042485 {source="DOID:10128", source="MONDO:equivalentTo"}
is_a: MONDO:0004634 {source="DOID:10128", source="linkedlifedata"} ! vein disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: exactMatch DOID:10128
property_value: exactMatch http://identifiers.org/mesh/D014689
property_value: exactMatch http://identifiers.org/snomedct/20696009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042485

[Term]
id: MONDO:0000946
name: psychologic vaginismus
def: "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." [NCIT:C35113]
synonym: "functional vaginismus" EXACT [DOID:10131, MTHICD9_2006:306.51]
synonym: "non-organic vaginismus" EXACT [DOID:10131]
synonym: "psychogenic vaginismus" EXACT [DOID:10131, NCIT:C35113]
xref: DOID:10131 {source="MONDO:equivalentTo"}
xref: ICD10:F52.5 {source="DOID:10131"}
xref: ICD9:306.51 {source="MONDO:equivalentTo", source="i2s", source="DOID:10131"}
xref: SCTID:71787009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10131"}
is_a: MONDO:0000947 {source="DOID:10131", source="linkedlifedata"} ! psychosexual disorder
is_a: MONDO:0021723 ! vaginismus
property_value: closeMatch http://identifiers.org/snomedct/154924008
property_value: closeMatch http://identifiers.org/snomedct/192469003
property_value: closeMatch http://identifiers.org/snomedct/268773000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042266
property_value: exactMatch DOID:10131
property_value: exactMatch http://identifiers.org/snomedct/71787009
property_value: exactMatch NCIT:C35113

[Term]
id: MONDO:0000947
name: psychosexual disorder
synonym: "non-organic sexual dysfunction" RELATED []
xref: COHD:436666 {source="MONDO:equivalentTo"}
xref: DOID:10132 {source="MONDO:equivalentTo"}
xref: ICD9:302.79 {source="DOID:10132"}
xref: ICD9:302.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:302.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:56627002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000595 {source="DOID:10132", source="MONDO:Redundant", source="linkedlifedata"} ! sexual and gender identity disorders
is_a: MONDO:0005084 {source="MONDO:Redundant", source="linkedlifedata"} ! mental disorder
disjoint_from: MONDO:0002134 ! physiological sexual disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033951
property_value: exactMatch DOID:10132
property_value: exactMatch http://identifiers.org/snomedct/56627002

[Term]
id: MONDO:0000948
name: xerophthalmia
def: "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." [NCIT:P378]
synonym: "conjunctival xerosis" EXACT [DOID:10138, ICD9CM_2006:372.53]
xref: COHD:373204 {source="MONDO:equivalentTo"}
xref: DOID:10138 {source="MONDO:equivalentTo"}
xref: ICD10:E50.7 {source="DOID:10138"}
xref: ICD10:H04.12 {source="DOID:10138"}
xref: ICD9:375.15 {source="MONDO:subClassOf", source="DOID:10138"}
xref: MESH:D014985 {source="DOID:10138", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34503 {source="DOID:10138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:363677007 {source="DOID:10138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.69/0.23"}
xref: UMLS:C0043349 {source="DOID:10138", source="MONDO:equivalentTo", source="NCIT:C34503"}
xref: UMLS:C3665609 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006733 {source="DOID:10138", source="MESH:D014985"} ! dry eye syndrome
property_value: closeMatch http://identifiers.org/snomedct/155167008
property_value: closeMatch http://identifiers.org/snomedct/193887002
property_value: closeMatch http://identifiers.org/snomedct/193980001
property_value: closeMatch http://identifiers.org/snomedct/69316005
property_value: exactMatch DOID:10138
property_value: exactMatch http://identifiers.org/mesh/D014985
property_value: exactMatch http://identifiers.org/snomedct/363677007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665609
property_value: exactMatch NCIT:C34503

[Term]
id: MONDO:0000949
name: conjunctival degeneration
xref: COHD:381580 {source="MONDO:equivalentTo"}
xref: DOID:10139 {source="MONDO:equivalentTo"}
xref: ICD10:H11.10 {source="DOID:10139"}
xref: ICD9:372.50 {source="DOID:10139", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:40787005 {source="DOID:10139", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155160 {source="DOID:10139", source="MONDO:equivalentTo"}
is_a: MONDO:0006170 {source="DOID:10139", source="linkedlifedata"} ! conjunctival disorder
property_value: closeMatch http://identifiers.org/snomedct/193886006
property_value: exactMatch DOID:10139
property_value: exactMatch http://identifiers.org/snomedct/40787005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155160

[Term]
id: MONDO:0000950
name: asthenopia
def: "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." [MESH:D001248]
synonym: "accommodative strain" EXACT [DOID:10141]
xref: DOID:10141 {source="MONDO:equivalentTo"}
xref: ICD10:H53.14 {source="DOID:10141"}
xref: MESH:D001248 {source="MONDO:equivalentTo", source="DOID:10141", source="MONDO:ontobio"}
xref: UMLS:C0004095 {source="MONDO:equivalentTo", source="DOID:10141"}
is_a: MONDO:0005328 {source="DOID:10141", source="MESH:D001248"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/193645002
property_value: closeMatch http://identifiers.org/snomedct/46640001
property_value: closeMatch http://identifiers.org/snomedct/70323002
property_value: exactMatch DOID:10141
property_value: exactMatch http://identifiers.org/mesh/D001248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004095

[Term]
id: MONDO:0000951
name: thymus lymphoma
def: "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:C6451]
synonym: "lymphoma of the Thymus" EXACT [NCIT:C6451]
synonym: "lymphoma of Thymus" EXACT [NCIT:C6451]
synonym: "lymphoma of thymus" EXACT []
synonym: "primary thymic lymphoma" EXACT [NCIT:C6451]
synonym: "thymic lymphoma" EXACT [MONDO:0006057, NCIT:C6451]
synonym: "Thymus lymphoma" EXACT [NCIT:C6451]
synonym: "thymus lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:10146 {source="MONDO:equivalentTo"}
xref: EFO:1000054 {source="MONDO:equivalentTo"}
xref: NCIT:C6451 {source="EFO:1000054", source="MONDO:equivalentTo", source="DOID:10146"}
xref: UMLS:C1336745 {source="EFO:1000054", source="NCIT:C6451", source="MONDO:equivalentTo", source="DOID:10146"}
is_a: MONDO:0002586 {source="DOID:10146", source="MONDO:Redundant", source="NCIT:C6451"} ! thymus cancer
is_a: MONDO:0004021 {source="NCIT:C6451"} ! mediastinal malignant lymphoma
property_value: exactMatch DOID:10146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336745
property_value: exactMatch NCIT:C6451

[Term]
id: MONDO:0000952
name: cancer of long bone of lower limb
def: "A cancer that involves the hindlimb long bone." [MONDO:patterns/location]
synonym: "cancer of hindlimb long bone" EXACT [MONDO:patterns/cancer]
synonym: "hindlimb long bone cancer" EXACT [MONDO:patterns/location]
synonym: "long bones of lower limb cancer" RELATED [DOID:10149]
synonym: "malignant hindlimb long bone neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hindlimb long bone" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of long bones of leg" EXACT [DOID:10149]
xref: DOID:10149 {source="MONDO:equivalentTo"}
xref: ICD10:C40.2 {source="DOID:10149", source="MONDO:equivalentTo"}
xref: ICD9:170.7 {source="DOID:10149", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:449627008 {source="MONDO:equivalentTo"}
xref: UMLS:C3265932 {source="MONDO:equivalentTo"}
is_a: MONDO:0024311 ! cancer affecting bone of limb skeleton
property_value: closeMatch http://identifiers.org/snomedct/187959005
property_value: closeMatch http://identifiers.org/snomedct/187963003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153517
property_value: exactMatch DOID:10149
property_value: exactMatch http://identifiers.org/snomedct/449627008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3265932

[Term]
id: MONDO:0000953
name: cancer of short bone of lower limb
synonym: "malignant neoplasm of short bone of lower limb" EXACT [DOID:10151]
synonym: "malignant neoplasm of short bones of leg" EXACT [DOID:10151]
xref: DOID:10151 {source="MONDO:equivalentTo"}
xref: ICD10:C40.3 {source="MONDO:equivalentTo", source="DOID:10151"}
xref: ICD9:170.8 {source="MONDO:equivalentTo", source="DOID:10151", source="i2s"}
xref: SCTID:712525007 {source="MONDO:equivalentTo", source="DOID:10151", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153518 {source="MONDO:equivalentTo", source="DOID:10151"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0000952 {source="DOID:10151"} ! cancer of long bone of lower limb
property_value: closeMatch http://identifiers.org/snomedct/187964009
property_value: closeMatch http://identifiers.org/snomedct/187979002
property_value: closeMatch http://identifiers.org/snomedct/269468002
property_value: closeMatch http://identifiers.org/snomedct/94003005
property_value: exactMatch DOID:10151
property_value: exactMatch http://identifiers.org/snomedct/712525007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153518

[Term]
id: MONDO:0000954
name: Meckel diverticulum cancer
def: "A cancer involving a Meckel's diverticulum." [MONDO:patterns/cancer]
synonym: "cancer of Meckel's diverticulum" EXACT [MONDO:patterns/cancer]
synonym: "malignant Meckel's diverticulum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [DOID:10152, MONDO:patterns/cancer]
synonym: "Meckel diverticulum cancer" EXACT [DOID:10152]
synonym: "Meckel's diverticulum cancer" EXACT [MONDO:patterns/location]
xref: DOID:10152 {source="MONDO:equivalentTo"}
xref: ICD9:152.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10152"}
xref: SCTID:187752007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.65", source="DOID:10152"}
xref: UMLS:C0153429 {source="MONDO:equivalentTo", source="DOID:10152"}
is_a: MONDO:0000955 {source="DOID:10152", source="MONDO:Entailed", source="MONDO:Redundant"} ! ileum cancer
is_a: MONDO:0021082 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! Meckel diverticulum neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93890009
property_value: exactMatch DOID:10152
property_value: exactMatch http://identifiers.org/snomedct/187752007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153429

[Term]
id: MONDO:0000955
name: ileum cancer
def: "A malignant neoplasm involving the ileum" [MONDO:DesignPattern]
synonym: "cancer of ileum" EXACT [MONDO:patterns/cancer]
synonym: "ileal neoplasm" EXACT EXCLUDE [DOID:10153]
synonym: "ileum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ileum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ileum" EXACT [DOID:10153, ICD9CM_2006:152.2, MONDO:patterns/cancer]
xref: DOID:10153 {source="MONDO:equivalentTo"}
xref: ICD10:C17.2 {source="DOID:10153"}
xref: ICD9:152.2 {source="DOID:10153"}
is_a: MONDO:0000956 {source="DOID:10153", source="MONDO:Entailed", source="MONDO:Redundant"} ! small intestine cancer
is_a: MONDO:0006801 ! ileal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/363405009
property_value: closeMatch http://identifiers.org/snomedct/93832004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153428
property_value: exactMatch DOID:10153

[Term]
id: MONDO:0000956
name: small intestine cancer
def: "A primary or metastatic malignant neoplasm involving the small intestine." [NCIT:C7523]
subset: gard_rare {source="GARD:0009385"}
synonym: "cancer of small intestine" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of small bowel" EXACT [NCIT:C7523]
synonym: "malignant neoplasm of small intestine" EXACT [MONDO:patterns/cancer, NCIT:C7523]
synonym: "malignant neoplasm of the small bowel" EXACT [NCIT:C7523]
synonym: "malignant neoplasm of the small intestine" EXACT [NCIT:C7523]
synonym: "malignant neoplasms of the small intestine" RELATED [GARD:0009385]
synonym: "malignant small bowel neoplasm" EXACT [NCIT:C7523]
synonym: "malignant small bowel tumor" EXACT [NCIT:C7523]
synonym: "malignant small intestinal neoplasm" EXACT [NCIT:C7523]
synonym: "malignant small intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7523]
synonym: "malignant small intestine tumor" EXACT [NCIT:C7523]
synonym: "malignant tumor of small bowel" EXACT [NCIT:C7523]
synonym: "malignant tumor of small intestine" EXACT [NCIT:C7523]
synonym: "malignant tumor of the small bowel" EXACT [NCIT:C7523]
synonym: "malignant tumor of the small intestine" EXACT [NCIT:C7523]
synonym: "small bowel tumors" RELATED [GARD:0009385]
synonym: "small intestine cancer" EXACT [MONDO:patterns/location]
xref: DOID:10154 {source="MONDO:equivalentTo"}
xref: GARD:0009385 {source="MONDO:equivalentTo"}
xref: ICD10:C17 {source="DOID:10154"}
xref: ICD10:C17.9 {source="DOID:10154"}
xref: ICD9:152.9 {source="DOID:10154"}
xref: NCIT:C7523 {source="MONDO:equivalentTo", source="DOID:10154"}
xref: UMLS:C0153425 {source="MONDO:equivalentTo", source="NCIT:C7523", source="DOID:10154"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="MONDOLEX:0000956", source="NCIT:C7523"} ! small intestine neoplasm
is_a: MONDO:0005814 {source="DOID:10154", source="MONDO:Redundant", source="MONDOLEX:0000956", source="NCIT:C7523"} ! intestinal cancer
property_value: closeMatch http://identifiers.org/snomedct/154555009
property_value: closeMatch http://identifiers.org/snomedct/187755009
property_value: closeMatch http://identifiers.org/snomedct/269615000
property_value: closeMatch http://identifiers.org/snomedct/363509000
property_value: closeMatch http://identifiers.org/snomedct/94048009
property_value: exactMatch DOID:10154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153425
property_value: exactMatch NCIT:C7523
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer xsd:anyURI {source="GARD:0009385"}

[Term]
id: MONDO:0000957
name: lacrimal passage granuloma
synonym: "granuloma of lacrimal passages" EXACT [DOID:10174, ICD9CM_2006:375.81]
xref: DOID:10174 {source="MONDO:equivalentTo"}
xref: ICD10:H04.81 {source="DOID:10174"}
xref: ICD9:375.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:10174"}
xref: SCTID:417563003 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo", source="DOID:10174"}
xref: UMLS:C0155253 {source="MONDO:equivalentTo", source="DOID:10174"}
is_a: MONDO:0001854 {source="DOID:10174", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
property_value: closeMatch http://identifiers.org/snomedct/194001006
property_value: closeMatch http://identifiers.org/snomedct/82836006
property_value: exactMatch DOID:10174
property_value: exactMatch http://identifiers.org/snomedct/417563003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155253

[Term]
id: MONDO:0000958
name: neuroretinitis
def: "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." [http://eyewiki.aao.org/Neuroretinitis]
synonym: "focal retinitis and retinochoroiditis, juxtapapillary" NARROW [DOID:10176, ICD9CM_2006:363.05]
synonym: "Juxtapapillary focal retinitis and retinochoroiditis" NARROW [DOID:10176]
synonym: "papilloretinitis" NARROW [DOID:10176]
xref: COHD:432630 {source="MONDO:equivalentTo"}
xref: DOID:10176 {source="MONDO:equivalentTo"}
xref: ICD10:H30.9 {source="DOID:10176"}
xref: ICD9:363.05 {source="http://eyewiki.aao.org/Neuroretinitis"}
xref: UMLS:C0154874 {source="MONDO:equivalentTo", source="DOID:10176"}
is_a: MONDO:0002122 ! neuritis
is_a: MONDO:0003579 ! retinal nerve fibre layer disorder
is_a: MONDO:0006879 {source="linkedlifedata"} ! optic papillitis
property_value: closeMatch http://identifiers.org/snomedct/410471004
property_value: exactMatch DOID:10176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154874

[Term]
id: MONDO:0000959
name: malignant hypertensive renal disease
xref: COHD:442766 {source="MONDO:equivalentTo"}
xref: DOID:10177 {source="MONDO:equivalentTo"}
xref: ICD9:403.00 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:65443008 {source="MONDO:equivalentTo", source="DOID:10177", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155593 {source="MONDO:equivalentTo", source="DOID:10177"}
is_a: MONDO:0006846 {source="DOID:10177", source="MONDO:Redundant"} ! malignant hypertension
is_a: MONDO:0024633 {source="MONDO:Redundant", source="MONDO:cjm"} ! hypertensive renal disease
intersection_of: MONDO:0006846 ! malignant hypertension
intersection_of: MONDO:0024633 ! hypertensive renal disease
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:10177"} ! renal hypertension
property_value: exactMatch DOID:10177
property_value: exactMatch http://identifiers.org/snomedct/65443008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155593

[Term]
id: MONDO:0000960
name: diabetic peripheral angiopathy
def: "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." [https://en.wikipedia.org/wiki/Diabetic_angiopathy]
synonym: "diabetic angiopathy" EXACT [MONDO:0006725]
synonym: "diabetic vascular disorder" EXACT [DOID:11713, NCIT:C35610]
xref: DOID:10182 {source="MONDO:equivalentTo"}
xref: DOID:11713 {source="MONDO:equivalentTo", source="EFO:1000896"}
xref: EFO:1000896 {source="MONDO:equivalentTo"}
xref: ICD9:250.7 {source="DOID:10182"}
xref: ICD9:443.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003925 {source="DOID:11713", source="MONDO:equivalentTo", source="EFO:1000896", source="MONDO:ontobio"}
xref: NCIT:C35610 {source="DOID:11713", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:127014009 {source="DOID:10182", source="MONDO:equivalentTo", source="EFO:1000896"}
xref: UMLS:C0011871 {source="DOID:10182", source="MONDO:equivalentTo"}
xref: UMLS:C0011875 {source="DOID:11713", source="MONDO:equivalentTo", source="NCIT:C35610"}
is_a: MONDO:0005294 {source="DOID:11713", source="EFO:1000896"} ! peripheral vascular disease
relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus
property_value: closeMatch http://identifiers.org/snomedct/190354007
property_value: closeMatch http://identifiers.org/snomedct/190361006
property_value: closeMatch http://identifiers.org/snomedct/267383000
property_value: closeMatch http://identifiers.org/snomedct/267473003
property_value: closeMatch http://identifiers.org/snomedct/982001
property_value: exactMatch DOID:10182
property_value: exactMatch DOID:11713
property_value: exactMatch http://identifiers.org/mesh/D003925
property_value: exactMatch http://identifiers.org/snomedct/127014009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011875
property_value: exactMatch NCIT:C35610

[Term]
id: MONDO:0000961
name: endobronchial lipoma
def: "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree." [NCIT:C5063]
comment: Editor note: TODO check with NCIT why this is classified as lung
synonym: "endobronchial lipoma" EXACT [NCIT:C5063]
xref: DOID:10183 {source="MONDO:equivalentTo"}
xref: NCIT:C5063 {source="MONDO:equivalentTo", source="DOID:10183", source="exact-label-match"}
xref: UMLS:C0852937 {source="NCIT:C5063", source="MONDO:equivalentTo", source="DOID:10183"}
is_a: MONDO:0000382 ! respiratory system benign neoplasm
is_a: MONDO:0000634 ! thoracic benign neoplasm
is_a: MONDO:0002807 {source="DOID:10183"} ! bronchial neoplasm (disease)
is_a: MONDO:0005106 {source="MONDOLEX:0000961", source="NCIT:C5063"} ! lipoma
is_a: MONDO:0044335 {source="NCIT:C5063"} ! benign soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002732 {source="NCIT:C5063"} ! lung benign neoplasm
property_value: exactMatch DOID:10183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852937
property_value: exactMatch NCIT:C5063

[Term]
id: MONDO:0000962
name: spindle cell lipoma
def: "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." [NCIT:C4254]
synonym: "spindle cell lipoma" EXACT [DOID:10184, NCIT:C4254]
synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [DOID:10184]
xref: DOID:10184 {source="MONDO:equivalentTo"}
xref: ICDO:8857/0 {source="NCIT:C4254"}
xref: NCIT:C4254 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10184"}
xref: SCTID:404058008 {source="MONDO:equivalentTo", source="DOID:10184", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334474 {source="NCIT:C4254", source="MONDO:equivalentTo", source="DOID:10184"}
is_a: MONDO:0005106 {source="DOID:10184", source="MONDOLEX:0000962", source="NCIT:C4254/inferred"} ! lipoma
is_a: MONDO:0020664 ! spindle cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/27313007
property_value: exactMatch DOID:10184
property_value: exactMatch http://identifiers.org/snomedct/404058008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334474
property_value: exactMatch NCIT:C4254

[Term]
id: MONDO:0000963
name: esophageal lipoma
def: "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." [NCIT:C5701]
synonym: "esophageal lipoma" EXACT [NCIT:C5701]
synonym: "esophagus lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of esophagus" EXACT [DOID:10187, NCIT:C5701]
synonym: "lipoma of the esophagus" EXACT [NCIT:C5701]
xref: DOID:10187 {source="MONDO:equivalentTo"}
xref: NCIT:C5701 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:10187"}
xref: UMLS:C1333455 {source="MONDO:equivalentTo", source="NCIT:C5701", source="DOID:10187"}
is_a: MONDO:0005106 {source="DOID:10187", source="MONDO:Redundant", source="MONDOLEX:0000963", source="NCIT:C5701"} ! lipoma
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C5701"} ! benign neoplasm of esophagus
property_value: exactMatch DOID:10187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333455
property_value: exactMatch NCIT:C5701

[Term]
id: MONDO:0000964
name: skin lipoma
def: "A benign or malignant adipose tissue neoplasm of the skin." [NCIT:P378]
synonym: "cutaneous lipoma" EXACT [DOID:10188, NCIT:C4616]
synonym: "cutaneous lipomatous tumor" EXACT [DOID:10188]
synonym: "lipoma of face" NARROW [DOID:10188]
synonym: "lipoma of skin" EXACT [DOID:10188, NCIT:C4616]
synonym: "lipoma of the skin" EXACT [NCIT:C4616]
synonym: "lipoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin lipoma" EXACT [NCIT:C4616]
synonym: "zone of skin lipoma" EXACT [MONDO:patterns/location]
xref: DOID:10188 {source="MONDO:equivalentTo"}
xref: ICD9:214.0 {source="MONDO:relatedTo", source="DOID:10188"}
xref: ICD9:214.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4616 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:10188"}
xref: SCTID:255187008 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo", source="DOID:10188"}
is_a: MONDO:0005106 {source="DOID:10188", source="MONDO:Redundant", source="MONDOLEX:0000964", source="NCIT:C4616"} ! lipoma
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4616/inferred", source="linkedlifedata"} ! benign neoplasm of skin
property_value: closeMatch http://identifiers.org/snomedct/188989000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153968
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0347394
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333174
property_value: closeMatch NCIT:C5566
property_value: exactMatch DOID:10188
property_value: exactMatch http://identifiers.org/snomedct/255187008
property_value: exactMatch NCIT:C4616

[Term]
id: MONDO:0000965
name: liver lipoma
def: "A rare benign adipose tissue neoplasm of the liver." [NCIT:C5750]
synonym: "hepatic lipoma" EXACT [NCIT:C5750]
synonym: "lipoma of liver" EXACT [NCIT:C5750]
synonym: "lipoma of the liver" EXACT [DOID:10190, NCIT:C5750]
synonym: "liver lipoma" EXACT [MONDO:patterns/location, NCIT:C5750]
xref: DOID:10190 {source="MONDO:equivalentTo"}
xref: NCIT:C5750 {source="DOID:10190", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333970 {source="NCIT:C5750", source="DOID:10190", source="MONDO:equivalentTo"}
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0004721 {source="DOID:10190", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver neoplasm
is_a: MONDO:0005106 {source="DOID:10190", source="MONDO:Redundant", source="MONDOLEX:0000965", source="NCIT:C5750"} ! lipoma
property_value: exactMatch DOID:10190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333970
property_value: exactMatch NCIT:C5750

[Term]
id: MONDO:0000966
name: pleomorphic lipoma
def: "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei." [NCIT:C3703]
synonym: "pleomorphic lipoma" EXACT [DOID:10192, NCIT:C3703]
synonym: "pleomorphic lipoma (morphologic abnormality)" EXACT [DOID:10192]
xref: DOID:10192 {source="MONDO:equivalentTo"}
xref: ICDO:8854/0 {source="NCIT:C3703"}
xref: NCIT:C3703 {source="MONDO:equivalentTo", source="DOID:10192"}
xref: SCTID:404059000 {source="MONDO:equivalentTo", source="DOID:10192", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0205823 {source="MONDO:equivalentTo", source="DOID:10192", source="NCIT:C3703"}
is_a: MONDO:0005106 {source="DOID:10192", source="MONDOLEX:0000966", source="NCIT:C3703/inferred"} ! lipoma
property_value: closeMatch http://identifiers.org/snomedct/189783001
property_value: closeMatch http://identifiers.org/snomedct/21396005
property_value: exactMatch DOID:10192
property_value: exactMatch http://identifiers.org/snomedct/404059000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205823
property_value: exactMatch NCIT:C3703

[Term]
id: MONDO:0000967
name: conventional lipoma
def: "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." [NCIT:C27530]
synonym: "classic type lipoma" EXACT [NCIT:C27530]
synonym: "conventional lipoma" EXACT [NCIT:C27530]
xref: DOID:10193 {source="MONDO:equivalentTo"}
xref: NCIT:C27530 {source="DOID:10193", source="MONDO:equivalentTo"}
xref: UMLS:C1333059 {source="NCIT:C27530", source="DOID:10193", source="MONDO:equivalentTo"}
is_a: MONDO:0005106 {source="DOID:10193", source="MONDOLEX:0000967", source="NCIT:C27530"} ! lipoma
property_value: exactMatch DOID:10193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333059
property_value: exactMatch NCIT:C27530

[Term]
id: MONDO:0000968
name: kidney lipoma
def: "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." [NCIT:C5101]
synonym: "kidney lipoma" EXACT [MONDO:patterns/location, NCIT:C5101]
synonym: "lipoma of kidney" EXACT [DOID:10194, NCIT:C5101]
synonym: "lipoma of the kidney" EXACT [NCIT:C5101]
synonym: "renal lipoma" EXACT [NCIT:C5101]
xref: DOID:10194 {source="MONDO:equivalentTo"}
xref: NCIT:C5101 {source="MONDO:equivalentTo", source="DOID:10194", source="exact-label-match"}
xref: UMLS:C1335744 {source="NCIT:C5101", source="MONDO:equivalentTo", source="DOID:10194"}
is_a: MONDO:0002513 {source="DOID:10194", source="MONDO:Redundant", source="NCIT:C5101"} ! kidney benign neoplasm
is_a: MONDO:0005106 {source="DOID:10194", source="MONDO:Redundant", source="MONDOLEX:0000968", source="NCIT:C5101"} ! lipoma
property_value: exactMatch DOID:10194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335744
property_value: exactMatch NCIT:C5101

[Term]
id: MONDO:0000969
name: pleural lipoma
def: "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall." [NCIT:C6644]
synonym: "lipoma of pleura" EXACT [DOID:10195, NCIT:C6644]
synonym: "lipoma of the pleura" EXACT [NCIT:C6644]
synonym: "pleura lipoma" EXACT [MONDO:patterns/location]
synonym: "pleural lipoma" EXACT [NCIT:C6644]
xref: DOID:10195 {source="MONDO:equivalentTo"}
xref: NCIT:C6644 {source="MONDO:equivalentTo", source="DOID:10195", source="exact-label-match"}
xref: SCTID:2460001000004103 {source="MONDO:equivalentTo", source="DOID:10195", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335434 {source="MONDO:equivalentTo", source="DOID:10195", source="NCIT:C6644"}
is_a: MONDO:0005106 {source="DOID:10195", source="MONDO:Redundant", source="MONDOLEX:0000969", source="NCIT:C6644"} ! lipoma
is_a: MONDO:0021457 {source="MONDO:Redundant", source="NCIT:C6644", source="linkedlifedata"} ! benign neoplasm of pleura
property_value: exactMatch DOID:10195
property_value: exactMatch http://identifiers.org/snomedct/2460001000004103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335434
property_value: exactMatch NCIT:C6644

[Term]
id: MONDO:0000970
name: breast lipoma
def: "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." [NCIT:C4647]
synonym: "breast lipoma" EXACT [MONDO:patterns/location, NCIT:C4647]
synonym: "lipoma of breast" EXACT [DOID:10199, NCIT:C4647]
synonym: "lipoma of the breast" EXACT [NCIT:C4647]
xref: DOID:10199 {source="MONDO:equivalentTo"}
xref: ICD9:214.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4647 {source="MONDO:equivalentTo", source="DOID:10199", source="exact-label-match"}
xref: SCTID:276891009 {source="MONDO:equivalentTo", source="DOID:10199", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349565 {source="MONDO:equivalentTo", source="DOID:10199", source="NCIT:C4647"}
is_a: MONDO:0000620 {source="DOID:10199", source="MONDO:Redundant", source="NCIT:C4647", source="linkedlifedata"} ! breast benign neoplasm
is_a: MONDO:0005106 {source="DOID:10199", source="MONDO:Redundant", source="MONDOLEX:0000970", source="NCIT:C4647"} ! lipoma
property_value: exactMatch DOID:10199
property_value: exactMatch http://identifiers.org/snomedct/276891009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349565
property_value: exactMatch NCIT:C4647

[Term]
id: MONDO:0000971
name: chest wall lipoma
def: "A benign adipose tissue neoplasm of the chest wall." [NCIT:P378]
synonym: "chest wall lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of chest wall" EXACT [NCIT:C6719]
synonym: "lipoma of the chest wall" EXACT [DOID:10200, NCIT:C6719]
xref: DOID:10200 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6719 {source="MONDO:equivalentTo", source="DOID:10200"}
xref: SCTID:448270009 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo", source="DOID:10200"}
xref: UMLS:C1332932 {source="NCIT:C6719", source="MONDO:equivalentTo", source="DOID:10200"}
is_a: MONDO:0005106 {source="DOID:10200", source="MONDO:Redundant", source="MONDOLEX:0000971", source="NCIT:C6719"} ! lipoma
is_a: MONDO:0021529 {source="MONDO:Redundant", source="NCIT:C6719", source="linkedlifedata"} ! benign neoplasm of chest wall
property_value: exactMatch DOID:10200
property_value: exactMatch http://identifiers.org/snomedct/448270009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332932
property_value: exactMatch NCIT:C6719

[Term]
id: MONDO:0000972
name: gallbladder lipoma
def: "A benign adipose tissue neoplasm involving the gallbladder wall." [NCIT:C5835]
synonym: "gall bladder lipoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder lipoma" EXACT [NCIT:C5835]
synonym: "lipoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "lipoma of gallbladder" EXACT [NCIT:C5835]
synonym: "lipoma of the gallbladder" EXACT [DOID:10201, NCIT:C5835]
xref: DOID:10201 {source="MONDO:equivalentTo"}
xref: NCIT:C5835 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:10201"}
xref: UMLS:C1333747 {source="MONDO:equivalentTo", source="NCIT:C5835", source="DOID:10201"}
is_a: MONDO:0005106 {source="DOID:10201", source="MONDO:Redundant", source="MONDOLEX:0000972", source="NCIT:C5835"} ! lipoma
is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! benign neoplasm of gallbladder
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:10201"} ! biliary tract neoplasm (disease)
property_value: exactMatch DOID:10201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333747
property_value: exactMatch NCIT:C5835

[Term]
id: MONDO:0000973
name: external ear lipoma
def: "A benign adipose tissue neoplasm of the external ear." [NCIT:C4618]
synonym: "external auditory meatus lipoma" EXACT [NCIT:C4618]
synonym: "external Ear lipoma" EXACT [NCIT:C4618]
synonym: "external ear lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of external auditory meatus" EXACT [NCIT:C4618]
synonym: "lipoma of external Ear" EXACT [NCIT:C4618]
synonym: "lipoma of external ear" EXACT []
synonym: "lipoma of the external auditory meatus" EXACT [NCIT:C4618]
synonym: "lipoma of the external Ear" EXACT [NCIT:C4618]
synonym: "lipoma of the external ear" EXACT [DOID:10203, NCIT:C4618]
xref: DOID:10203 {source="MONDO:equivalentTo"}
xref: ICD9:215.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4618 {source="DOID:10203", source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.22"}
xref: SCTID:188988008 {source="DOID:10203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0347423 {source="DOID:10203", source="NCIT:C4618", source="MONDO:equivalentTo"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="MONDOLEX:0000973", source="NCIT:C4618"} ! lipoma
is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4618/inferred", source="linkedlifedata/inferred"} ! external ear neoplasm
is_a: MONDO:0021474 {source="MONDO:Redundant", source="NCIT:C4618/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of ear
property_value: exactMatch DOID:10203
property_value: exactMatch http://identifiers.org/snomedct/188988008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347423
property_value: exactMatch NCIT:C4618

[Term]
id: MONDO:0000974
name: axillary lipoma
def: "A benign adipose tissue neoplasm of the axilla." [NCIT:C35419]
synonym: "axilla lipoma" EXACT [MONDO:patterns/location]
synonym: "axillary lipoma" EXACT [NCIT:C35419]
synonym: "lipoma of axilla" EXACT [DOID:10205, NCIT:C35419]
xref: DOID:10205 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35419 {source="MONDO:equivalentTo"}
xref: SCTID:188993006 {source="DOID:10205", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0347429 {source="NCIT:C35419", source="DOID:10205", source="MONDO:equivalentTo"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="MONDOLEX:0000974", source="NCIT:C35419", source="OWLReasoner:2017"} ! lipoma
is_a: MONDO:0036781 {source="MONDO:Redundant", source="NCIT:C35419"} ! benign axillary neoplasm
property_value: exactMatch DOID:10205
property_value: exactMatch http://identifiers.org/snomedct/188993006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347429
property_value: exactMatch NCIT:C35419

[Term]
id: MONDO:0000975
name: lipoma of spermatic cord
def: "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions." [NCIT:P378]
synonym: "lipoma of spermatic cord" EXACT [DOID:10206, ICD9CM_2006:214.4, NCIT:C3606]
synonym: "lipoma of the spermatic cord" EXACT [NCIT:C3606]
synonym: "spermatic cord lipoma" EXACT [DOID:10206, MONDO:patterns/location, NCIT:C3606]
xref: COHD:197823 {source="MONDO:equivalentTo"}
xref: DOID:10206 {source="MONDO:equivalentTo"}
xref: ICD9:214.4 {source="DOID:10206", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3606 {source="DOID:10206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:93162007 {source="DOID:10206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153972 {source="NCIT:C3606", source="DOID:10206", source="MONDO:equivalentTo"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0000976 {source="DOID:10206", source="NCIT:C3606"} ! paratesticular lipoma
is_a: MONDO:0024582 ! male reproductive system neoplasm
property_value: exactMatch DOID:10206
property_value: exactMatch http://identifiers.org/snomedct/93162007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153972
property_value: exactMatch NCIT:C3606

[Term]
id: MONDO:0000976
name: paratesticular lipoma
def: "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range." [NCIT:C6384]
synonym: "paratesticular lipoma" EXACT [NCIT:C6384]
xref: DOID:10207 {source="MONDO:equivalentTo"}
xref: NCIT:C6384 {source="DOID:10207", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335348 {source="NCIT:C6384", source="DOID:10207", source="MONDO:equivalentTo"}
is_a: MONDO:0000383 {source="DOID:10207", source="NCIT:C6384/inferred"} ! benign reproductive system neoplasm
is_a: MONDO:0005106 {source="MONDOLEX:0000976", source="NCIT:C6384"} ! lipoma
property_value: exactMatch DOID:10207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335348
property_value: exactMatch NCIT:C6384

[Term]
id: MONDO:0000977
name: chondroid lipoma
def: "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females." [NCIT:P378]
xref: DOID:10208 {source="MONDO:equivalentTo"}
xref: ICDO:8862/0 {source="NCIT:C6503"}
xref: NCIT:C6503 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10208"}
xref: SCTID:404065000 {source="MONDO:equivalentTo", source="DOID:10208", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1266131 {source="MONDO:equivalentTo", source="DOID:10208", source="NCIT:C6503"}
is_a: MONDO:0005106 {source="DOID:10208", source="MONDOLEX:0000977", source="NCIT:C6503"} ! lipoma
property_value: closeMatch http://identifiers.org/snomedct/128746001
property_value: exactMatch DOID:10208
property_value: exactMatch http://identifiers.org/snomedct/404065000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266131
property_value: exactMatch NCIT:C6503

[Term]
id: MONDO:0000978
name: extrahepatic bile duct lipoma
def: "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." [NCIT:C5854]
synonym: "extrahepatic bile duct lipoma" EXACT [MONDO:patterns/location, NCIT:C5854]
synonym: "lipoma of extrahepatic bile duct" EXACT [NCIT:C5854]
synonym: "lipoma of the extrahepatic bile duct" EXACT [DOID:10209, NCIT:C5854]
xref: DOID:10209 {source="MONDO:equivalentTo"}
xref: NCIT:C5854 {source="DOID:10209", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333509 {source="DOID:10209", source="MONDO:equivalentTo", source="NCIT:C5854"}
is_a: MONDO:0000965 ! liver lipoma
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5854/inferred"} ! extrahepatic bile duct neoplasm
property_value: exactMatch DOID:10209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333509
property_value: exactMatch NCIT:C5854

[Term]
id: MONDO:0000979
name: pinta disease
def: "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." [NCIT:C85011]
comment: NCBI Taxonomy appears to lack an entry for T carateum
synonym: "Azul" RELATED [GARD:0007397]
synonym: "Carate" RELATED [GARD:0007397]
synonym: "Empeines" RELATED [GARD:0007397]
synonym: "endemic treponematosis caused by Treponema carateum" RELATED [GARD:0007397]
synonym: "infection by Treponema carateum" RELATED []
synonym: "Lota" RELATED [GARD:0007397]
synonym: "Mal del pinto" RELATED [GARD:0007397]
synonym: "pinta" EXACT [NCIT:C85011]
synonym: "Tina" RELATED [GARD:0007397]
xref: DOID:1022 {source="MONDO:equivalentTo"}
xref: EFO:1001396 {source="MONDO:equivalentTo"}
xref: GARD:0007397 {source="MONDO:equivalentTo"}
xref: ICD10:A67 {source="DOID:1022"}
xref: ICD10:A67.0 {source="DOID:1022"}
xref: ICD10:A67.1 {source="DOID:1022"}
xref: ICD10:A67.2 {source="DOID:1022"}
xref: ICD10:A67.3 {source="DOID:1022"}
xref: ICD10:A67.9 {source="DOID:1022"}
xref: ICD9:103 {source="DOID:1022"}
xref: ICD9:103.0 {source="DOID:1022"}
xref: ICD9:103.1 {source="DOID:1022"}
xref: ICD9:103.2 {source="DOID:1022"}
xref: ICD9:103.3 {source="DOID:1022"}
xref: ICD9:103.9 {source="DOID:1022", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010874 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: NCIT:C85011 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: SCTID:22064009 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: UMLS:C0031946 {source="MEDGEN:kboom-pr98-c99", source="DOID:1022", source="MONDO:equivalentTo", source="NCIT:C85011"}
is_a: MONDO:0000314 {source="DOID:1022"} ! primary bacterial infectious disease
is_a: MONDO:0007000 {source="MESH:D010874"} ! Treponema infectious disease
is_a: MONDO:0024295 {source="MESH:D010874"} ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/snomedct/186975003
property_value: closeMatch http://identifiers.org/snomedct/186976002
property_value: closeMatch http://identifiers.org/snomedct/187373005
property_value: closeMatch http://identifiers.org/snomedct/240685007
property_value: closeMatch http://identifiers.org/snomedct/4669001
property_value: closeMatch http://identifiers.org/snomedct/68131004
property_value: closeMatch http://identifiers.org/snomedct/68202005
property_value: closeMatch http://identifiers.org/snomedct/7251008
property_value: closeMatch http://identifiers.org/snomedct/73594001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153241
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153242
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153243
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153244
property_value: exactMatch DOID:1022
property_value: exactMatch http://identifiers.org/mesh/D010874
property_value: exactMatch http://identifiers.org/snomedct/22064009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031946
property_value: exactMatch NCIT:C85011

[Term]
id: MONDO:0000980
name: aortic atherosclerosis (disease)
def: "A atherosclerosis that involves the aorta." [MONDO:patterns/location]
synonym: "aorta atherosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic atherosclerosis" EXACT [DOID:10230, MONDO:ambiguous]
synonym: "atherosclerosis of aorta" EXACT [DOID:10230]
xref: DOID:10230 {source="MONDO:equivalentTo"}
xref: HP:0012397 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I70.0 {source="DOID:10230"}
xref: ICD9:440.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10230"}
xref: SCTID:81817003 {source="MONDO:equivalentTo", source="DOID:10230", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155733 {source="MONDO:equivalentTo", source="DOID:10230"}
is_a: MONDO:0005311 {source="DOID:10230", source="MONDO:Redundant", source="linkedlifedata"} ! atherosclerosis
is_a: MONDO:0005561 {source="MONDO:Redundant", source="linkedlifedata"} ! aortic disease
property_value: closeMatch http://identifiers.org/snomedct/155415000
property_value: closeMatch http://identifiers.org/snomedct/195252007
property_value: exactMatch DOID:10230
property_value: exactMatch http://identifiers.org/snomedct/81817003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155733

[Term]
id: MONDO:0000981
name: Histoplasma pericarditis
def: "An pericarditis (disease) caused by infection with Histoplasma." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "acute Histoplasma pericarditis" NARROW [doi:10.1001/archinte.1968.00300070066013]
synonym: "Histoplasma caused pericarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma pericarditis (disease)" EXACT []
synonym: "histoplasmosis pericarditis" EXACT []
synonym: "histoplasmosis with pericarditis" EXACT []
xref: DOID:10234 {source="MONDO:equivalentTo"}
xref: ICD9:115.93 {source="MONDO:equivalentTo", source="i2s", source="DOID:10234"}
xref: SCTID:187059008 {source="MONDO:equivalentTo", source="DOID:10234", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153279 {source="MONDO:equivalentTo", source="DOID:10234"}
is_a: MONDO:0005904 {source="DOID:10234", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! pericarditis (disease)
is_a: MONDO:0018312 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! histoplasmosis
property_value: exactMatch DOID:10234
property_value: exactMatch http://identifiers.org/snomedct/187059008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153279

[Term]
id: MONDO:0000982
name: obsolete Brown's tendon sheath syndrome
is_obsolete: true
replaced_by: MONDO:0014624

[Term]
id: MONDO:0000983
name: exhibitionism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." [NCIT:C94352]
xref: DOID:10236 {source="MONDO:equivalentTo"}
xref: ICD10:F65.2 {source="DOID:10236", source="MONDO:equivalentTo"}
xref: ICD9:302.4 {source="DOID:10236", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005084 {source="DOID:10236", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94352 {source="DOID:10236", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:58349009 {source="DOID:10236", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000596 {source="DOID:10236", source="MESH:D005084", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraphilic disorder
property_value: closeMatch http://identifiers.org/snomedct/154907002
property_value: closeMatch http://identifiers.org/snomedct/191781000
property_value: closeMatch http://identifiers.org/snomedct/192514003
property_value: closeMatch http://identifiers.org/snomedct/268763002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015269
property_value: exactMatch DOID:10236
property_value: exactMatch http://identifiers.org/mesh/D005084
property_value: exactMatch http://identifiers.org/snomedct/58349009
property_value: exactMatch NCIT:C94352

[Term]
id: MONDO:0000984
name: thalassemia
def: "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." [NCIT:P378]
synonym: "sickle-cell thalassemia with crisis" EXACT [DOID:10241, ICD9CM_2006:282.42]
synonym: "sickle-cell thalassemia without crisis" EXACT [DOID:10241, ICD9CM_2006:282.41]
synonym: "thalassemia Hb-S disease with crisis" EXACT [DOID:10241]
synonym: "thalassemia Hb-S disease without crisis" EXACT [DOID:10241]
xref: COHD:30978 {source="MONDO:equivalentTo"}
xref: DOID:10241 {source="MONDO:equivalentTo"}
xref: EFO:1001996 {source="MONDO:equivalentTo"}
xref: GARD:0007756 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:D56 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: ICD10:D56.9 {source="DOID:10241"}
xref: ICD9:282.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:10241"}
xref: ICD9:282.40 {source="DOID:10241"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013789 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: NCIT:C35069 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10241"}
xref: SCTID:40108008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10241"}
xref: UMLS:C0039730 {source="MONDO:equivalentTo", source="NCIT:C35069", source="DOID:10241"}
is_a: MONDO:0019050 {source="EFO:1001996", source="MESH:D013789", source="NCIT:C35069", source="linkedlifedata"} ! inherited hemoglobinopathy
relationship: disease_has_feature MONDO:0003664 {source="ICD10:D56-modified"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:10241"} ! autosomal recessive disease
property_value: closeMatch http://identifiers.org/snomedct/154796005
property_value: closeMatch http://identifiers.org/snomedct/191182000
property_value: closeMatch http://identifiers.org/snomedct/191192008
property_value: closeMatch http://identifiers.org/snomedct/191193003
property_value: closeMatch http://identifiers.org/snomedct/267521001
property_value: closeMatch http://identifiers.org/snomedct/267557006
property_value: closeMatch http://identifiers.org/snomedct/84188003
property_value: exactMatch DOID:10241
property_value: exactMatch http://identifiers.org/mesh/D013789
property_value: exactMatch http://identifiers.org/snomedct/40108008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039730
property_value: exactMatch NCIT:C35069

[Term]
id: MONDO:0000985
name: obsolete ehrlichiosis
is_obsolete: true
replaced_by: MONDO:0016003

[Term]
id: MONDO:0000986
name: pleurisy
def: "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." [NCIT:C26860]
synonym: "inflammation of pleura" EXACT []
synonym: "pleura inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pleuritis" EXACT [NCIT:C26860]
xref: COHD:78786 {source="MONDO:equivalentTo"}
xref: DOID:10247 {source="MONDO:equivalentTo"}
xref: EFO:1001825 {source="MONDO:equivalentTo"}
xref: ICD10:R09.1 {source="MONDO:equivalentTo"}
xref: ICD9:511.8 {source="DOID:10247"}
xref: MESH:D010998 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26860 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:196075003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0032231 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26860", source="MONDO:equivalentTo"}
is_a: MONDO:0002037 {source="DOID:10247", source="MESH:D010998", source="MONDO:Redundant", source="NCIT:C26860", source="linkedlifedata"} ! pleural disease
is_a: MONDO:0043786 ! serositis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029799
property_value: exactMatch DOID:10247
property_value: exactMatch http://identifiers.org/mesh/D010998
property_value: exactMatch http://identifiers.org/snomedct/196075003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032231
property_value: exactMatch NCIT:C26860

[Term]
id: MONDO:0000987
name: cholesterolosis of gallbladder
def: "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." [https://en.wikipedia.org/wiki/Cholesterolosis_of_gallbladder]
synonym: "strawberry gallbladder" EXACT [DOID:10254, ICD9CM_2006:575.6]
xref: COHD:197318 {source="MONDO:equivalentTo"}
xref: DOID:10254 {source="MONDO:equivalentTo"}
xref: ICD10:K82.4 {source="MONDO:equivalentTo", source="DOID:10254"}
xref: ICD9:575.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:10254"}
xref: SCTID:61565001 {source="MONDO:equivalentTo", source="DOID:10254", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152456 {source="MONDO:equivalentTo", source="DOID:10254"}
is_a: MONDO:0005281 {source="DOID:10254", source="MONDO:Redundant", source="linkedlifedata"} ! gallbladder disease
property_value: exactMatch DOID:10254
property_value: exactMatch http://identifiers.org/snomedct/61565001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152456

[Term]
id: MONDO:0000988
name: discharging ear
def: "Discharge or drainage of fluid from the ear." [NCIT:P378]
xref: DOID:10261 {source="MONDO:equivalentTo"}
xref: ICD10:H92.1 {source="DOID:10261"}
xref: ICD10:H92.10 {source="DOID:10261"}
xref: ICD9:388.6 {source="DOID:10261"}
xref: ICD9:388.60 {source="DOID:10261"}
is_a: MONDO:0002409 {source="DOID:10261"} ! auditory system disease
property_value: closeMatch http://identifiers.org/snomedct/139633004
property_value: closeMatch http://identifiers.org/snomedct/155250006
property_value: closeMatch http://identifiers.org/snomedct/162364004
property_value: closeMatch http://identifiers.org/snomedct/194403000
property_value: closeMatch http://identifiers.org/snomedct/194405007
property_value: closeMatch http://identifiers.org/snomedct/267676003
property_value: closeMatch http://identifiers.org/snomedct/300132001
property_value: closeMatch http://identifiers.org/snomedct/65668001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155540
property_value: exactMatch DOID:10261
property_value: exactMatch NCIT:C35199

[Term]
id: MONDO:0000989
name: mumps infectious disease
alt_id: MONDO:0005863
def: "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." [NCIT:C29888]
subset: gard_rare {source="GARD:0007116"}
synonym: "epidemic parotitis" EXACT [NCIT:C29888]
synonym: "mumps" EXACT [NCIT:C29888]
synonym: "Mumps virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mumps virus disease or disorder" EXACT []
synonym: "Mumps virus infectious disease" EXACT []
synonym: "mumps virus infectious disease" RELATED []
xref: DOID:10264 {source="MONDO:equivalentTo"}
xref: EFO:0007383 {source="MONDO:equivalentTo"}
xref: GARD:0007116 {source="MONDO:equivalentTo"}
xref: ICD10:B26 {source="MONDO:equivalentTo", source="DOID:10264"}
xref: ICD10:B26.9 {source="DOID:10264"}
xref: ICD9:072 {source="DOID:10264"}
xref: MESH:D009107 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10264"}
xref: MESH:D019351 {source="MONDO:equivalentTo", source="EFO:0007383"}
xref: NCIT:C29888 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10264"}
xref: SCTID:36989005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10264"}
xref: UMLS:C0026780 {source="MONDO:equivalentTo", source="NCIT:C29888", source="DOID:10264"}
is_a: MONDO:0005896 ! Paramyxoviridae infectious disease
property_value: closeMatch DOID:10304
property_value: closeMatch http://identifiers.org/snomedct/154352008
property_value: closeMatch http://identifiers.org/snomedct/186651001
property_value: closeMatch http://identifiers.org/snomedct/186652008
property_value: closeMatch http://identifiers.org/snomedct/240526004
property_value: exactMatch DOID:10264
property_value: exactMatch http://identifiers.org/mesh/D009107
property_value: exactMatch http://identifiers.org/mesh/D019351
property_value: exactMatch http://identifiers.org/snomedct/36989005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026780
property_value: exactMatch NCIT:C29888
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7116/mumps xsd:anyURI {source="GARD:0007116"}

[Term]
id: MONDO:0000990
name: acute subendocardial myocardial infarction
def: "Acute form of subendocardial myocardial infarction." [MONDO:patterns/acute]
synonym: "acute nontransmural infarction" RELATED []
synonym: "acute subendocardial infarction" EXACT []
synonym: "subendocardial infarction acute myocardial infarction" RELATED [DOID:10266]
synonym: "subendocardial myocardial infarction, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10266 {source="MONDO:equivalentTo"}
xref: ICD9:410.7 {source="DOID:10266"}
xref: ICD9:410.70 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:410.71 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.72 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:70422006 {source="MONDO:equivalentTo"}
xref: UMLS:C0264710 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003674 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0000990"} ! subendocardial myocardial infarction
is_a: MONDO:0004781 {source="DOID:10266", source="MONDO:Redundant", source="MONDOLEX:0000990", source="linkedlifedata"} ! acute myocardial infarction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155655
property_value: exactMatch DOID:10266
property_value: exactMatch http://identifiers.org/snomedct/70422006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264710

[Term]
id: MONDO:0000991
name: left bundle branch block
def: "A bundle branch block in which the activation of the left ventricle is delayed." [https://en.wikipedia.org/wiki/Left_bundle_branch_block, MONDO:cjm]
synonym: "left bundle branch [block] or [hemiblock]" RELATED [DOID:10272]
synonym: "left bundle branch hemiblock" RELATED [DOID:10272]
xref: COHD:313209 {source="MONDO:equivalentTo"}
xref: DOID:10272 {source="MONDO:equivalentTo"}
xref: ICD10:I44.60 {source="DOID:10272"}
xref: ICD9:426.2 {source="MONDO:equivalentTo", source="DOID:10272", source="i2s"}
xref: SCTID:4973001 {source="MONDO:equivalentTo", source="DOID:10272", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:63467002 {source="MONDO:equivalentTo"}
xref: UMLS:C0155702 {source="MONDO:equivalentTo", source="DOID:10272"}
is_a: MONDO:0020803 ! bundle branch block
property_value: closeMatch http://identifiers.org/snomedct/195044001
property_value: closeMatch http://identifiers.org/snomedct/195045000
property_value: closeMatch http://identifiers.org/snomedct/266245009
property_value: exactMatch DOID:10272
property_value: exactMatch http://identifiers.org/snomedct/4973001
property_value: exactMatch http://identifiers.org/snomedct/63467002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155702

[Term]
id: MONDO:0000992
name: heart conduction disease
def: "A disease that has its basis in the disruption of the heart's electrical conduction system." [MONDO:cjm, MONDO:DesignPattern]
synonym: "cardiac conduction disease" EXACT []
synonym: "cardiac conduction disorder" EXACT []
synonym: "conduction disease of heart" EXACT []
synonym: "disease of cardiac conduction" EXACT []
synonym: "disorder of cardiac conduction" EXACT []
synonym: "heart rhythm disease" EXACT [DOID:10273]
xref: DOID:10273 {source="MONDO:equivalentTo"}
xref: ICD9:426.6 {source="DOID:10273"}
xref: SCTID:44808001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:10273", source="MONDO:Entailed", source="MONDO:Redundant"} ! heart disease
property_value: closeMatch http://identifiers.org/snomedct/195053008
property_value: closeMatch http://identifiers.org/snomedct/195056000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029630
property_value: exactMatch DOID:10273
property_value: exactMatch http://identifiers.org/snomedct/44808001

[Term]
id: MONDO:0000993
name: prostate squamous cell carcinoma
def: "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." [NCIT:C5536]
synonym: "prostate gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate squamous cell carcinoma" EXACT [NCIT:C5536]
synonym: "PRSC" RELATED [ONCOTREE:PRSC]
synonym: "squamous cell carcinoma of prostate" EXACT [DOID:10287, NCIT:C5536]
synonym: "squamous cell carcinoma of the prostate" EXACT [DOID:10287, NCIT:C5536]
xref: DOID:10287 {source="MONDO:equivalentTo"}
xref: NCIT:C5536 {source="MONDO:equivalentTo", source="DOID:10287", source="exact-label-match"}
xref: ONCOTREE:PRSC {source="MONDO:equivalentTo"}
xref: SCTID:399590005 {source="MONDO:equivalentTo", source="DOID:10287", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1302530 {source="MONDO:equivalentTo", source="NCIT:C5536", source="DOID:10287"}
is_a: MONDO:0005096 {source="DOID:10287", source="MONDO:Redundant", source="MONDOLEX:0000993", source="NCIT:C5536", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0005159 {source="DOID:10287", source="MONDO:Redundant", source="MONDOLEX:0000993", source="NCIT:C5536/inferred"} ! prostate carcinoma
property_value: exactMatch DOID:10287
property_value: exactMatch http://identifiers.org/snomedct/399590005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302530
property_value: exactMatch NCIT:C5536

[Term]
id: MONDO:0000994
name: malignant prostate phyllodes tumor
def: "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia." [NCIT:C5531]
synonym: "malignant phyllodes neoplasm of prostate" EXACT [NCIT:C5531]
synonym: "malignant phyllodes neoplasm of the prostate" EXACT [DOID:10289, NCIT:C5531]
synonym: "malignant phyllodes tumor of prostate" EXACT [NCIT:C5531]
synonym: "malignant phyllodes tumor of the prostate" EXACT [NCIT:C5531]
synonym: "malignant prostate phyllodes neoplasm" EXACT [NCIT:C5531]
synonym: "malignant prostate phyllodes tumor" EXACT [NCIT:C5531]
synonym: "prostate malignant phyllodes tumor" RELATED [DOID:10289]
xref: DOID:10289 {source="MONDO:equivalentTo"}
xref: NCIT:C5531 {source="MONDO:equivalentTo", source="DOID:10289", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334615 {source="MONDO:equivalentTo", source="NCIT:C5531", source="DOID:10289"}
is_a: MONDO:0006295 ! malignant urinary system neoplasm
is_a: MONDO:0008315 {source="DOID:10289", source="MONDO:Redundant", source="MONDOLEX:0000994", source="NCIT:C5531"} ! prostate cancer
is_a: MONDO:0021102 {source="MONDO:Redundant", source="MONDOLEX:0000994", source="NCIT:C5531"} ! prostate phyllodes tumor
is_a: MONDO:0037003 {source="MONDO:Redundant", source="MONDOLEX:0000994", source="NCIT:C5531"} ! malignant phyllodes tumor
property_value: closeMatch http://identifiers.org/mesh/C549759
property_value: exactMatch DOID:10289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334615
property_value: exactMatch NCIT:C5531

[Term]
id: MONDO:0000995
name: familial periodic paralysis
def: "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." [NCIT:C84709]
subset: gard_rare {source="GARD:0006422"}
subset: ordo_group_of_disorders
synonym: "familial periodic paralyses" RELATED [MESH:D010245]
synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709]
synonym: "genetic periodic paralysis" RELATED [GARD:0006422, Orphanet:371433]
synonym: "hereditary periodic paralysis (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "normokalemic periodic paralyses" RELATED [MESH:D010245]
synonym: "normokalemic periodic paralysis" RELATED [MESH:D010245]
synonym: "paralyses, normokalemic periodic" RELATED [MESH:D010245]
synonym: "paralysis, familial periodic" RELATED [MESH:D010245]
synonym: "paralysis, normokalemic periodic" RELATED [MESH:D010245]
synonym: "periodic paralyses, familial" RELATED [MESH:D010245]
synonym: "periodic paralyses, normokalemic" RELATED [MESH:D010245]
synonym: "periodic paralysis, familial" RELATED [MESH:D010245]
synonym: "periodic paralysis, normokalemic" RELATED [MESH:D010245]
xref: DOID:1029 {source="MONDO:equivalentTo"}
xref: GARD:0006422 {source="MONDO:equivalentTo"}
xref: ICD10:G72.3 {source="DOID:1029", source="Orphanet:371433"}
xref: MESH:D010245 {source="MONDO:equivalentTo", source="DOID:1029"}
xref: NCIT:C84709 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:1029"}
xref: Orphanet:371433 {source="MONDO:equivalentTo", source="GARD:0006422"}
xref: SCTID:267607008 {source="MONDO:equivalentTo", source="DOID:1029", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004689 {source="DOID:1029", source="MESH:D010245"} ! inborn metal metabolism disorder
is_a: MONDO:0016122 ! periodic paralysis (disease)
is_a: MONDO:0020123 {source="linkedlifedata"} ! metabolic myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
intersection_of: MONDO:0016122 ! periodic paralysis (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/155099000
property_value: closeMatch http://identifiers.org/snomedct/193241004
property_value: closeMatch http://identifiers.org/snomedct/267714003
property_value: closeMatch http://identifiers.org/snomedct/54696002
property_value: exactMatch DOID:1029
property_value: exactMatch http://identifiers.org/mesh/D010245
property_value: exactMatch http://identifiers.org/snomedct/267607008
property_value: exactMatch NCIT:C84709
property_value: exactMatch Orphanet:371433
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis xsd:anyURI {source="GARD:0006422"}

[Term]
id: MONDO:0000996
name: prostate lymphoma
def: "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." [NCIT:C5533]
synonym: "lymphoma of prostate" EXACT [DOID:10290, NCIT:C5533]
synonym: "lymphoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "lymphoma of the prostate" EXACT [DOID:10290, NCIT:C5533]
synonym: "primary prostate lymphoma" EXACT [NCIT:C5533]
synonym: "prostate gland lymphoma" EXACT [MONDO:patterns/location]
synonym: "prostate lymphoma" EXACT [NCIT:C5533]
xref: DOID:10290 {source="MONDO:equivalentTo"}
xref: NCIT:C5533 {source="DOID:10290", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335512 {source="DOID:10290", source="MONDO:equivalentTo", source="NCIT:C5533"}
is_a: MONDO:0005062 {source="DOID:10290", source="MONDO:Redundant", source="NCIT:C5533/inferred"} ! lymphoma
is_a: MONDO:0008315 {source="DOID:10290", source="NCIT:C5533"} ! prostate cancer
property_value: exactMatch DOID:10290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335512
property_value: exactMatch NCIT:C5533

[Term]
id: MONDO:0000997
name: monocular esotropia
def: "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." [MESH:D004948]
xref: COHD:375285 {source="MONDO:equivalentTo"}
xref: DOID:10293 {source="MONDO:equivalentTo"}
xref: ICD10:H50.01 {source="DOID:10293"}
xref: ICD9:378.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:10293"}
xref: SCTID:5455000 {source="MONDO:equivalentTo", source="DOID:10293", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152204 {source="MONDO:equivalentTo", source="DOID:10293"}
is_a: MONDO:0004896 {source="DOID:10293", source="MONDOLEX:0000997", source="linkedlifedata"} ! esotropia
property_value: closeMatch http://identifiers.org/snomedct/194075001
property_value: exactMatch DOID:10293
property_value: exactMatch http://identifiers.org/snomedct/5455000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152204

[Term]
id: MONDO:0000998
name: obsolete parotid disease
is_obsolete: true
replaced_by: MONDO:0005899

[Term]
id: MONDO:0000999
name: obsolete pneumoconiosis
is_obsolete: true
replaced_by: MONDO:0015926

[Term]
id: MONDO:0001000
name: mixed mineral dust pneumoconiosis
def: "Pneumoconiosis caused by the inhalation of mixed mineral dust particles." [NCIT:C27559]
synonym: "mineral duct pneumoconiosis" BROAD [MONDO:cjm]
synonym: "mineral dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "mixed mineral dust pneumoconiosis" EXACT [NCIT:C27559]
synonym: "pneumoconiosis from mineral dust" EXACT []
xref: DOID:10319 {source="MONDO:equivalentTo"}
xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27559 {source="DOID:10319", source="MONDO:equivalentTo"}
xref: SCTID:233759002 {source="DOID:10319", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0340184 {source="DOID:10319", source="MONDO:equivalentTo", source="NCIT:C27559"}
is_a: MONDO:0015926 {source="DOID:10319", source="MONDO:Redundant", source="NCIT:C27559", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: exactMatch DOID:10319
property_value: exactMatch http://identifiers.org/snomedct/233759002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340184
property_value: exactMatch NCIT:C27559

[Term]
id: MONDO:0001001
name: baritosis
def: "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." [NCIT:C34410]
comment: Editor note: request term from ENVO
subset: gard_rare {source="GARD:0008371"}
synonym: "deposition of barium in the lungs" RELATED [GARD:0008371]
synonym: "inhalation of barytes" RELATED [GARD:0008371]
xref: DOID:10321 {source="MONDO:equivalentTo"}
xref: GARD:0008371 {source="MONDO:equivalentTo"}
xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537080 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10321"}
xref: NCIT:C34410 {source="MONDO:equivalentTo", source="DOID:10321"}
xref: SCTID:50076003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10321"}
xref: UMLS:C0340177 {source="MONDO:equivalentTo", source="NCIT:C34410", source="DOID:10321"}
is_a: MONDO:0015926 {source="DOID:10321", source="MESH:C537080", source="MONDO:Redundant", source="NCIT:C34410", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: exactMatch DOID:10321
property_value: exactMatch http://identifiers.org/mesh/C537080
property_value: exactMatch http://identifiers.org/snomedct/50076003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340177
property_value: exactMatch NCIT:C34410
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8371/baritosis xsd:anyURI {source="GARD:0008371"}

[Term]
id: MONDO:0001002
name: obsolete pulmonary siderosis
is_obsolete: true
replaced_by: MONDO:0008346

[Term]
id: MONDO:0001003
name: pneumoconiosis due to talc
def: "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." [NCIT:P378]
synonym: "talc pneumoconiosis" EXACT [DOID:10329, NCIT:C27026]
xref: DOID:10329 {source="MONDO:equivalentTo"}
xref: ICD10:J62.0 {source="DOID:10329"}
xref: ICD9:502 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27026 {source="MONDO:equivalentTo", source="DOID:10329", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:73144008 {source="MONDO:equivalentTo", source="DOID:10329", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238377 {source="NCIT:C27026", source="MONDO:equivalentTo", source="DOID:10329"}
is_a: MONDO:0015926 {source="DOID:10329", source="MONDO:Redundant", source="NCIT:C27026", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: exactMatch DOID:10329
property_value: exactMatch http://identifiers.org/snomedct/73144008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238377
property_value: exactMatch NCIT:C27026

[Term]
id: MONDO:0001004
name: slate pneumoconiosis
def: "Pneumoconiosis caused by exposure to slate dust." [NCIT:P378]
synonym: "Schistosis" EXACT [DOID:10330]
xref: DOID:10330 {source="MONDO:equivalentTo"}
xref: ICD9:502 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35397 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10330"}
xref: SCTID:1259003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72", source="DOID:10330"}
xref: UMLS:C0340186 {source="NCIT:C35397", source="MONDO:equivalentTo", source="DOID:10330"}
is_a: MONDO:0015926 {source="DOID:10330", source="MONDO:Redundant", source="NCIT:C35397", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: exactMatch DOID:10330
property_value: exactMatch http://identifiers.org/snomedct/1259003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340186
property_value: exactMatch NCIT:C35397

[Term]
id: MONDO:0001005
name: kaolin pneumoconiosis
def: "Pneumoconiosis caused by inhalation of kaolin dust." [NCIT:P378]
subset: gard_rare {source="GARD:0008355"}
synonym: "Kaolinosis" EXACT [DOID:10331]
synonym: "simple kaolinosis" RELATED [GARD:0008355]
xref: DOID:10331 {source="MONDO:equivalentTo"}
xref: GARD:0008355 {source="MONDO:equivalentTo"}
xref: ICD9:502 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35315 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10331"}
xref: SCTID:36696005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10331"}
xref: UMLS:C0264435 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35315", source="DOID:10331"}
is_a: MONDO:0015926 {source="DOID:10331", source="MONDO:Redundant", source="NCIT:C35315", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: exactMatch DOID:10331
property_value: exactMatch http://identifiers.org/snomedct/36696005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264435
property_value: exactMatch NCIT:C35315
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis xsd:anyURI {source="GARD:0008355"}

[Term]
id: MONDO:0001006
name: glaucomatous atrophy of optic disc
synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT [DOID:10337, ICD9CM_2006:377.14]
xref: COHD:438155 {source="MONDO:equivalentTo"}
xref: DOID:10337 {source="MONDO:equivalentTo"}
xref: ICD10:H47.23 {source="DOID:10337"}
xref: ICD9:377.14 {source="DOID:10337", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:1207009 {source="DOID:10337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271342 {source="DOID:10337", source="MONDO:equivalentTo"}
is_a: MONDO:0003608 {source="DOID:10337", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic atrophy
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0005041 {source="DOID:10337", source="linkedlifedata"} ! glaucoma (disease)
property_value: exactMatch DOID:10337
property_value: exactMatch http://identifiers.org/snomedct/1207009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271342

[Term]
id: MONDO:0001007
name: chronic meningitis
def: "Chronic form of meningitis (disease)." [MONDO:patterns/chronic]
synonym: "chronic meningitis (disease)" EXACT []
synonym: "meningitis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:439797 {source="MONDO:equivalentTo"}
xref: DOID:10341 {source="MONDO:equivalentTo"}
xref: ICD10:G03.1 {source="MONDO:equivalentTo", source="DOID:10341"}
xref: ICD9:322.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:10341"}
xref: SCTID:21664006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10341"}
xref: UMLS:C0154653 {source="MONDO:equivalentTo", source="DOID:10341"}
is_a: MONDO:0021108 ! meningitis (disease)
relationship: excluded_subClassOf MONDO:0004796 {source="DOID:10341"} ! infectious meningitis
property_value: exactMatch DOID:10341
property_value: exactMatch http://identifiers.org/snomedct/21664006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154653

[Term]
id: MONDO:0001008
name: blepharophimosis (disease)
def: "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" [MESH:D016569]
synonym: "blepharophimosis" EXACT [MONDO:ambiguous]
xref: DOID:10348 {source="MONDO:equivalentTo"}
xref: GARD:0005932 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0000581 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H02.52 {source="DOID:10348"}
xref: ICD9:374.46 {source="DOID:10348"}
xref: MESH:D016569 {source="DOID:10348", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0003382 {source="DOID:10348", source="MESH:D016569"} ! eyelid disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005744
property_value: exactMatch DOID:10348
property_value: exactMatch http://identifiers.org/mesh/D016569

[Term]
id: MONDO:0001009
name: solitary cyst of breast
def: "A single, fluid-filled cyst in the breast parenchyma." [NCIT:P378]
synonym: "solitary cyst of breast" EXACT [DOID:10349, ICD9CM_2006:610.0]
synonym: "solitary cyst of the breast" EXACT [DOID:10349, NCIT:C3378]
xref: COHD:78473 {source="MONDO:equivalentTo"}
xref: DOID:10349 {source="MONDO:equivalentTo"}
xref: ICD10:N60.0 {source="DOID:10349", source="MONDO:equivalentTo"}
xref: ICD10:N60.09 {source="DOID:10349"}
xref: ICD9:610.0 {source="DOID:10349", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:266578003 {source="DOID:10349", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001011 {source="DOID:10349", source="linkedlifedata"} ! breast cyst
property_value: closeMatch http://identifiers.org/snomedct/198090005
property_value: closeMatch http://identifiers.org/snomedct/270538000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037619
property_value: exactMatch DOID:10349
property_value: exactMatch http://identifiers.org/snomedct/266578003
property_value: exactMatch NCIT:C3378

[Term]
id: MONDO:0001010
name: obsolete natural killer cell leukemia
is_obsolete: true
replaced_by: MONDO:0019470

[Term]
id: MONDO:0001011
name: breast cyst
def: "A cystic lesion located in breast tissue." [NCIT:P378]
synonym: "cyst of the breast" EXACT [DOID:10350, NCIT:C5315]
xref: DOID:10350 {source="MONDO:equivalentTo"}
xref: EFO:1000848 {source="MONDO:equivalentTo"}
xref: ICD10:N60.0 {source="MONDO:superClassOf", source="DOID:10350"}
xref: MESH:D047688 {source="MONDO:equivalentTo", source="DOID:10350", source="MONDO:ontobio"}
xref: SCTID:399294002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo", source="DOID:10350"}
is_a: MONDO:0000620 {source="DOID:10350"} ! breast benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/270538000
property_value: closeMatch http://identifiers.org/snomedct/56726003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006144
property_value: exactMatch DOID:10350
property_value: exactMatch http://identifiers.org/mesh/D047688
property_value: exactMatch http://identifiers.org/snomedct/399294002
property_value: exactMatch NCIT:C5315

[Term]
id: MONDO:0001012
name: obsolete breast fibroadenosis
comment: Obsoleting because this is a phenotype.
synonym: "fibroadenosis - breast" EXACT [DOID:10352]
synonym: "fibroadenosis of breast" EXACT [DOID:10352, ICD9CM_2006:610.2]
xref: COHD:75010 {source="MONDO:obsoleteEquivalent"}
xref: DOID:10352 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:N60.2 {source="MONDO:obsoleteEquivalent", source="DOID:10352"}
xref: ICD9:610.2 {source="MONDO:obsoleteEquivalent", source="i2s", source="DOID:10352"}
xref: SCTID:23260002 {source="MONDO:obsoleteEquivalent", source="DOID:10352", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1305875 {source="MONDO:obsoleteEquivalent", source="DOID:10352"}
property_value: closeMatch http://identifiers.org/snomedct/198092002
property_value: closeMatch http://identifiers.org/snomedct/270893004
property_value: exactMatch DOID:10352
property_value: exactMatch http://identifiers.org/snomedct/23260002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305875
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/429 xsd:string
is_obsolete: true
consider: HP:0010619

[Term]
id: MONDO:0001013
name: obsolete fibrosclerosis of breast
is_obsolete: true
replaced_by: MONDO:0006118

[Term]
id: MONDO:0001014
name: chronic leukemia
def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483]
synonym: "adult chronic leukemia" RELATED [DOID:1036]
synonym: "chronic leukemia" EXACT [NCIT:C3483]
synonym: "chronic leukemia (disease)" EXACT []
synonym: "CLL" RELATED [DOID:1036]
synonym: "CML" RELATED [DOID:1036]
synonym: "leukemia (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:140057 {source="MONDO:equivalentTo"}
xref: DOID:1036 {source="MONDO:equivalentTo"}
xref: ICD9:208.10 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3483 {source="DOID:1036", source="MONDO:equivalentTo"}
xref: SCTID:92812005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1279296 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3483", source="MONDO:equivalentTo"}
is_a: MONDO:0005059 {source="DOID:1036", source="MONDO:Redundant", source="NCIT:C3483", source="linkedlifedata"} ! leukemia (disease)
property_value: exactMatch DOID:1036
property_value: exactMatch http://identifiers.org/snomedct/92812005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279296
property_value: exactMatch NCIT:C3483

[Term]
id: MONDO:0001015
name: eosinophilic meningitis
def: "Meningitis in which eosinophils predominate in the cerebrospinal fluid." [NCIT:C128374]
xref: COHD:443746 {source="MONDO:equivalentTo"}
xref: DOID:10361 {source="MONDO:equivalentTo"}
xref: ICD9:322.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10361"}
xref: NCIT:C128374 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:25671008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10361"}
xref: UMLS:C0154652 {source="NCIT:C128374", source="MONDO:equivalentTo", source="DOID:10361"}
is_a: MONDO:0001007 {source="DOID:10361", source="linkedlifedata"} ! chronic meningitis
property_value: exactMatch DOID:10361
property_value: exactMatch http://identifiers.org/snomedct/25671008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154652
property_value: exactMatch NCIT:C128374

[Term]
id: MONDO:0001016
name: epididymis cancer
def: "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." [NCIT:C3558]
synonym: "cancer of epididymis" EXACT [MONDO:patterns/cancer]
synonym: "epididymis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epididymal neoplasm" EXACT [NCIT:C3558]
synonym: "malignant epididymal tumor" EXACT [DOID:10366, NCIT:C3558]
synonym: "malignant epididymis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epididymis" EXACT [DOID:10366, ICD9CM_2006:187.5, MONDO:patterns/cancer, NCIT:C3558]
synonym: "malignant neoplasm of the epididymis" EXACT [NCIT:C3558]
synonym: "malignant tumor of epididymis" EXACT [NCIT:C3558]
synonym: "malignant tumor of the epididymis" EXACT [NCIT:C3558]
xref: DOID:10366 {source="MONDO:equivalentTo"}
xref: ICD10:C63.0 {source="DOID:10366"}
xref: ICD9:187.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:10366"}
xref: NCIT:C3558 {source="MONDO:equivalentTo", source="DOID:10366"}
xref: SCTID:363452003 {source="MONDO:equivalentTo", source="DOID:10366", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153602 {source="MONDO:equivalentTo", source="NCIT:C3558", source="DOID:10366"}
is_a: MONDO:0003283 {source="MONDO:Redundant", source="NCIT:C3558"} ! epididymal neoplasm
is_a: MONDO:0005836 {source="DOID:10366", source="MONDO:Redundant", source="NCIT:C3558"} ! male reproductive organ cancer
property_value: closeMatch http://identifiers.org/snomedct/93783009
property_value: exactMatch DOID:10366
property_value: exactMatch http://identifiers.org/snomedct/363452003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153602
property_value: exactMatch NCIT:C3558

[Term]
id: MONDO:0001017
name: epididymal adenocarcinoma
def: "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain." [NCIT:C39957]
synonym: "adenocarcinoma of the epididymis" EXACT [DOID:10368, NCIT:C39957]
synonym: "epididymal adenocarcinoma" EXACT [NCIT:C39957]
synonym: "epididymis adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10368 {source="MONDO:equivalentTo"}
xref: NCIT:C39957 {source="DOID:10368", source="MONDO:equivalentTo"}
xref: UMLS:C1510784 {source="DOID:10368", source="MONDO:equivalentTo", source="NCIT:C39957"}
is_a: MONDO:0001016 {source="DOID:10368", source="MONDO:Redundant", source="NCIT:C39957"} ! epididymis cancer
is_a: MONDO:0004970 {source="DOID:10368", source="MONDO:Redundant", source="MONDOLEX:0001017", source="NCIT:C39957"} ! adenocarcinoma
property_value: exactMatch DOID:10368
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510784
property_value: exactMatch NCIT:C39957

[Term]
id: MONDO:0001018
name: obsolete lymphoblastic leukemia
is_obsolete: true
replaced_by: MONDO:0004967

[Term]
id: MONDO:0001019
name: suppression amblyopia
def: "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." [MESH:D000550]
synonym: "strabismic amblyopia" EXACT [DOID:10375, ICD9CM_2006:368.01]
xref: COHD:374649 {source="MONDO:equivalentTo"}
xref: DOID:10375 {source="MONDO:equivalentTo"}
xref: ICD10:H53.03 {source="DOID:10375"}
xref: ICD9:368.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:10375"}
xref: SCTID:35600002 {source="MONDO:equivalentTo", source="DOID:10375", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0750903 {source="MONDO:equivalentTo", source="DOID:10375"}
is_a: MONDO:0001020 {source="DOID:10375", source="linkedlifedata"} ! amblyopia (disease)
property_value: closeMatch http://identifiers.org/mesh/D000550
property_value: exactMatch DOID:10375
property_value: exactMatch http://identifiers.org/snomedct/35600002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750903

[Term]
id: MONDO:0001020
name: amblyopia (disease)
def: "Decreased vision that results from abnormal visual development." [NCIT:C118764]
synonym: "amblyopia" EXACT [MONDO:ambiguous]
synonym: "lazy eye" RELATED [NCIT:C118764]
xref: COHD:376981 {source="MONDO:equivalentTo"}
xref: CSP:1114-9655 {source="DOID:10376"}
xref: DOID:10376 {source="MONDO:equivalentTo"}
xref: HP:0000646 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H53.00 {source="DOID:10376"}
xref: ICD9:368.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:10376"}
xref: NCIT:C118764 {source="NCIT:C118764", source="MONDO:equivalentTo", source="DOID:10376"}
xref: SCTID:387742006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10376"}
xref: UMLS:C0002418 {source="NCIT:C118764", source="MONDO:equivalentTo", source="DOID:10376"}
is_a: MONDO:0021084 {source="NCIT:C118764", source="NCIT:C118764/inferred", source="linkedlifedata"} ! vision disorder
property_value: closeMatch http://identifiers.org/mesh/D000550
property_value: closeMatch http://identifiers.org/snomedct/111517004
property_value: closeMatch http://identifiers.org/snomedct/155145007
property_value: closeMatch http://identifiers.org/snomedct/193637007
property_value: closeMatch http://identifiers.org/snomedct/267627009
property_value: closeMatch http://identifiers.org/snomedct/267726008
property_value: exactMatch DOID:10376
property_value: exactMatch http://identifiers.org/snomedct/387742006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002418
property_value: exactMatch NCIT:C118764

[Term]
id: MONDO:0001021
name: ametropic amblyopia
synonym: "refractive amblyopia" EXACT [DOID:10377, ICD9CM_2006:368.03]
xref: COHD:381017 {source="MONDO:equivalentTo"}
xref: DOID:10377 {source="MONDO:equivalentTo"}
xref: ICD10:H53.02 {source="DOID:10377"}
xref: ICD9:368.03 {source="MONDO:equivalentTo", source="i2s", source="DOID:10377"}
xref: SCTID:90927000 {source="MONDO:equivalentTo", source="DOID:10377", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152190 {source="MONDO:equivalentTo", source="DOID:10377"}
is_a: MONDO:0001020 {source="DOID:10377", source="linkedlifedata"} ! amblyopia (disease)
property_value: exactMatch DOID:10377
property_value: exactMatch http://identifiers.org/snomedct/90927000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152190

[Term]
id: MONDO:0001022
name: disuse amblyopia
synonym: "deprivation amblyopia" EXACT [DOID:10378, ICD9CM_2006:368.02]
xref: DOID:10378 {source="MONDO:equivalentTo"}
xref: ICD10:H53.01 {source="DOID:10378"}
xref: ICD9:368.02 {source="DOID:10378", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193638002 {source="DOID:10378", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.60"}
xref: UMLS:C0152189 {source="DOID:10378", source="MONDO:equivalentTo"}
is_a: MONDO:0001020 {source="DOID:10378", source="linkedlifedata"} ! amblyopia (disease)
property_value: closeMatch http://identifiers.org/snomedct/21457000
property_value: exactMatch DOID:10378
property_value: exactMatch http://identifiers.org/snomedct/193638002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152189

[Term]
id: MONDO:0001023
name: prolymphocytic leukemia
def: "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." [NCIT:C3181]
synonym: "PLL" EXACT [NCIT:C3181]
synonym: "prolymphocytic leukemia" EXACT [NCIT:C3181]
synonym: "prolymphocytic leukemia (B or T)" EXACT [NCIT:C3181]
synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [NCIT:C3181]
xref: DOID:1039 {source="MONDO:equivalentTo"}
xref: GARD:0011965 {source="MONDO:equivalentTo"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9832/3 {source="NCIT:C3181"}
xref: MESH:D015463 {source="MONDO:equivalentTo", source="DOID:1039", source="MONDO:ontobio"}
xref: NCIT:C3181 {source="MONDO:equivalentTo", source="DOID:1039", source="exact-label-match"}
xref: SCTID:110006004 {source="MONDO:kboom-pr-1.00/0.79/8.32", source="MONDO:equivalentTo", source="DOID:1039"}
xref: UMLS:C0023486 {source="MONDO:equivalentTo", source="DOID:1039", source="NCIT:C3181"}
is_a: MONDO:0001014 {source="NCIT:C3181", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia
is_a: MONDO:0004967 {source="DOID:1039/inferred", source="MONDO:Redundant", source="NCIT:C3181", source="indirect"} ! acute lymphoblastic leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/10300002
property_value: closeMatch http://identifiers.org/snomedct/128923008
property_value: exactMatch DOID:1039
property_value: exactMatch http://identifiers.org/mesh/D015463
property_value: exactMatch http://identifiers.org/snomedct/110006004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023486
property_value: exactMatch NCIT:C3181

[Term]
id: MONDO:0001024
name: pneumonic plague
def: "A plague in which the bacteria have infected the lungs." [https://www.healthline.com/health/plague#types]
synonym: "primary pneumonic plague" NARROW [DOID:10398]
synonym: "secondary pneumonic plague" NARROW [DOID:10398]
xref: DOID:10398 {source="MONDO:equivalentTo"}
xref: ICD10:A20.2 {source="MONDO:equivalentTo", source="DOID:10398"}
xref: ICD9:020.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10398"}
xref: ICD9:020.4 {source="DOID:10398"}
xref: ICD9:020.5 {source="DOID:10398"}
xref: SCTID:35339003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08", source="DOID:10398"}
xref: UMLS:C0524688 {source="MONDO:equivalentTo", source="DOID:10398"}
is_a: MONDO:0005275 ! lung disease
is_a: MONDO:0019095 {source="DOID:10398", source="ICD10:A20.2", source="MONDO:Redundant", source="MONDOLEX:0001024", source="linkedlifedata", source="linkedlifedata/inferred"} ! plague
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186283004
property_value: closeMatch http://identifiers.org/snomedct/38976008
property_value: closeMatch http://identifiers.org/snomedct/67525007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152937
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152938
property_value: exactMatch DOID:10398
property_value: exactMatch http://identifiers.org/snomedct/35339003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524688

[Term]
id: MONDO:0001025
name: seminal vesicle chronic gonorrhea
def: "Chronic form of gonococcal seminal vesiculitis." [MONDO:patterns/chronic]
synonym: "chronic gonococcal seminal vesiculitis" EXACT [MONDO:design_pattern]
synonym: "gonococcal seminal vesiculitis, chronic" EXACT [DOID:10399, ICD9CM_2006:098.34, MONDO:patterns/chronic]
xref: DOID:10399 {source="MONDO:equivalentTo"}
xref: ICD9:098.34 {source="MONDO:equivalentTo", source="i2s", source="DOID:10399"}
xref: SCTID:23975003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68", source="DOID:10399"}
xref: UMLS:C0153205 {source="MONDO:equivalentTo", source="DOID:10399"}
is_a: MONDO:0001027 {source="DOID:10399", source="MONDO:Redundant", source="MONDOLEX:0001025", source="linkedlifedata"} ! gonococcal seminal vesiculitis
property_value: exactMatch DOID:10399
property_value: exactMatch http://identifiers.org/snomedct/23975003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153205

[Term]
id: MONDO:0001026
name: obsolete bacterial infectious disease
def: "A infectious disease involving the Bacteria." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Bacteria infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Bacteria" RELATED [MONDO:patterns/infectious_disease_by_agent]
is_obsolete: true
replaced_by: MONDO:0005113

[Term]
id: MONDO:0001027
name: gonococcal seminal vesiculitis
def: "A gonorrhea that involves the seminal vesicle." [MONDO:patterns/location]
synonym: "gonococcal seminal vesiculitis (acute)" EXACT [DOID:10400, ICD9CM_2006:098.14]
synonym: "gonorrhea of seminal vesicle" EXACT [DOID:10400, MTHICD9_2006:098.14]
synonym: "seminal vesicle gonorrhea" EXACT [MONDO:patterns/location]
xref: DOID:10400 {source="MONDO:equivalentTo"}
xref: SCTID:301990003 {source="DOID:10400", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.43"}
xref: UMLS:C0578661 {source="DOID:10400", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="DOID:10400", source="MONDO:Redundant", source="linkedlifedata"} ! gonorrhea
is_a: MONDO:0004767 {source="DOID:10400", source="MONDO:Redundant", source="linkedlifedata"} ! vesiculitis
property_value: exactMatch DOID:10400
property_value: exactMatch http://identifiers.org/snomedct/301990003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0578661

[Term]
id: MONDO:0001028
name: acute pericementitis
def: "An acute inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
synonym: "acute periodontitis" EXACT [DOID:10423, ICD9CM_2006:523.3, NCIT:C34354]
synonym: "periodontitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:132943 {source="MONDO:equivalentTo"}
xref: DOID:10423 {source="MONDO:equivalentTo"}
xref: ICD9:523.3 {source="DOID:10423"}
xref: ICD9:523.33 {source="DOID:10423"}
xref: NCIT:C34354 {source="DOID:10423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: SCTID:21638000 {source="DOID:10423", source="MONDO:equivalentTo"}
xref: UMLS:C0001342 {source="DOID:10423", source="MONDO:equivalentTo", source="NCIT:C34354"}
is_a: MONDO:0005076 {source="DOID:10423", source="MONDO:Redundant", source="NCIT:C34354", source="OWLReasoner:2017"} ! periodontitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155646007
property_value: closeMatch http://identifiers.org/snomedct/196361004
property_value: closeMatch http://identifiers.org/snomedct/196362006
property_value: closeMatch http://identifiers.org/snomedct/196364007
property_value: exactMatch DOID:10423
property_value: exactMatch http://identifiers.org/snomedct/21638000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001342
property_value: exactMatch NCIT:C34354

[Term]
id: MONDO:0001029
name: Klippel-Feil syndrome
def: "Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia . In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome]
comment: Usage notes: this class includes both isolated forms and forms that are features of other syndromes
subset: gard_rare {source="GARD:0010280"}
synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [DOID:10426]
synonym: "cervical vertebral fusion" RELATED [GARD:0010280]
synonym: "congenital dystrophia brevicollis" RELATED [DOID:10426]
synonym: "congenital synostosis of cervical vertebrae" RELATED [DOID:10426]
synonym: "Klippel Feil syndrome" RELATED [GARD:0010280]
synonym: "Klippel-Feil and Turner syndrome" RELATED [DOID:10426]
synonym: "Klippel-Feil deformity, deafness and facial asymmetry" RELATED [DOID:10426]
synonym: "Klippel-Feil Sequence" EXACT [NCIT:C98967]
xref: DOID:10426 {source="MONDO:equivalentTo"}
xref: GARD:0010280 {source="MONDO:equivalentTo"}
xref: ICD10:Q76.1 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: ICD9:756.16 {source="DOID:10426", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007714 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: NCIT:C98967 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: OMIMPS:118100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:5601008 {source="DOID:10426", source="MONDO:equivalentTo"}
is_a: MONDO:0000839 {source="DOID:10426", source="ICD10:Q76.1/inferred", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0019711 {source="MONDO:cjm"} ! dysostosis with predominant vertebral and costal involvement
property_value: closeMatch http://identifiers.org/snomedct/129581007
property_value: closeMatch http://identifiers.org/snomedct/157003009
property_value: closeMatch http://identifiers.org/snomedct/205441002
property_value: closeMatch http://identifiers.org/snomedct/268349005
property_value: closeMatch http://identifiers.org/snomedct/388981000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022738
property_value: exactMatch DOID:10426
property_value: exactMatch http://identifiers.org/mesh/D007714
property_value: exactMatch http://identifiers.org/snomedct/5601008
property_value: exactMatch NCIT:C98967
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome xsd:anyURI {source="GARD:0010280"}

[Term]
id: MONDO:0001030
name: keratoconus, stable condition
synonym: "stable condition keratoconus" EXACT [DOID:10428]
xref: COHD:380110 {source="MONDO:equivalentTo"}
xref: DOID:10428 {source="MONDO:equivalentTo"}
xref: ICD10:H18.61 {source="DOID:10428"}
xref: ICD9:371.61 {source="MONDO:equivalentTo", source="DOID:10428", source="i2s"}
xref: SCTID:193844000 {source="MONDO:equivalentTo", source="DOID:10428", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155131 {source="MONDO:equivalentTo", source="DOID:10428"}
is_a: MONDO:0015486 {source="DOID:10428", source="linkedlifedata"} ! keratoconus (disease)
property_value: closeMatch http://identifiers.org/snomedct/75253008
property_value: exactMatch DOID:10428
property_value: exactMatch http://identifiers.org/snomedct/193844000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155131

[Term]
id: MONDO:0001031
name: purulent acute otitis media
def: "Acute form of suppurative otitis media." [MONDO:patterns/acute]
synonym: "acute suppurative otitis media" EXACT [MONDO:design_pattern]
synonym: "suppurative otitis media, acute" EXACT [MONDO:patterns/acute]
xref: COHD:439264 {source="MONDO:equivalentTo"}
xref: DOID:10435 {source="MONDO:equivalentTo"}
xref: ICD9:382.02 {source="DOID:10435"}
xref: SCTID:194281003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0271431 {source="MONDO:equivalentTo"}
is_a: MONDO:0005975 {source="DOID:10435", source="MONDO:Redundant", source="MONDOLEX:0001031"} ! suppurative otitis media
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155439
property_value: exactMatch DOID:10435
property_value: exactMatch http://identifiers.org/snomedct/194281003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271431

[Term]
id: MONDO:0001032
name: Mooren ulcer
subset: ordo_disease
synonym: "Mooren's ulcer" EXACT [DOID:10439]
xref: DOID:10439 {source="MONDO:equivalentTo"}
xref: ICD10:H16.05 {source="DOID:10439"}
xref: ICD9:370.07 {source="MONDO:equivalentTo", source="DOID:10439", source="i2s"}
xref: Orphanet:519408 {source="MONDO:equivalentTo"}
xref: SCTID:22440001 {source="MONDO:equivalentTo", source="DOID:10439", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155072 {source="MONDO:equivalentTo", source="DOID:10439"}
is_a: MONDO:0004577 {source="DOID:10439", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer
property_value: exactMatch DOID:10439
property_value: exactMatch http://identifiers.org/snomedct/22440001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155072
property_value: exactMatch Orphanet:519408

[Term]
id: MONDO:0001033
name: mycotic corneal ulcer
xref: DOID:10440 {source="MONDO:equivalentTo"}
xref: ICD10:H16.06 {source="DOID:10440"}
xref: ICD9:370.05 {source="MONDO:equivalentTo", source="i2s", source="DOID:10440"}
xref: SCTID:397977001 {source="MONDO:equivalentTo", source="DOID:10440", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155071 {source="MONDO:equivalentTo", source="DOID:10440"}
is_a: MONDO:0004577 {source="DOID:10440", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer
property_value: closeMatch http://identifiers.org/snomedct/59939007
property_value: exactMatch DOID:10440
property_value: exactMatch http://identifiers.org/snomedct/397977001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155071

[Term]
id: MONDO:0001034
name: marginal corneal ulcer
xref: COHD:374931 {source="MONDO:equivalentTo"}
xref: DOID:10441 {source="MONDO:equivalentTo"}
xref: ICD10:H16.04 {source="DOID:10441"}
xref: ICD9:370.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:10441"}
xref: SCTID:47398006 {source="MONDO:equivalentTo", source="DOID:10441", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155067 {source="MONDO:equivalentTo", source="DOID:10441"}
is_a: MONDO:0004577 {source="DOID:10441", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer
property_value: exactMatch DOID:10441
property_value: exactMatch http://identifiers.org/snomedct/47398006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155067

[Term]
id: MONDO:0001035
name: hypopyon ulcer
xref: DOID:10442 {source="MONDO:equivalentTo"}
xref: ICD10:H16.03 {source="DOID:10442"}
xref: ICD9:370.04 {source="MONDO:equivalentTo", source="i2s", source="DOID:10442"}
xref: SCTID:6395007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10442"}
xref: UMLS:C0155070 {source="MONDO:equivalentTo", source="DOID:10442"}
is_a: MONDO:0001036 {source="DOID:10442", source="linkedlifedata"} ! hypopyon
property_value: closeMatch http://identifiers.org/snomedct/193762002
property_value: closeMatch http://identifiers.org/snomedct/267633000
property_value: exactMatch DOID:10442
property_value: exactMatch http://identifiers.org/snomedct/6395007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155070

[Term]
id: MONDO:0001036
name: hypopyon
def: "An accumulation of pus in the anterior chamber of the eye." [NCIT:P378]
xref: COHD:439018 {source="MONDO:equivalentTo"}
xref: DOID:10443 {source="MONDO:equivalentTo"}
xref: ICD10:H20.05 {source="DOID:10443"}
xref: ICD9:364.05 {source="MONDO:equivalentTo", source="i2s", source="DOID:10443"}
xref: NCIT:C50593 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:10443"}
xref: SCTID:87807004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10443"}
xref: UMLS:C0020641 {source="MONDO:equivalentTo", source="NCIT:C50593", source="DOID:10443"}
is_a: MONDO:0017210 ! infectious anterior uveitis
property_value: exactMatch DOID:10443
property_value: exactMatch http://identifiers.org/snomedct/87807004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020641
property_value: exactMatch NCIT:C50593

[Term]
id: MONDO:0001037
name: ring corneal ulcer
xref: COHD:377563 {source="MONDO:equivalentTo"}
xref: DOID:10444 {source="MONDO:equivalentTo"}
xref: ICD10:H16.02 {source="DOID:10444"}
xref: ICD9:370.02 {source="DOID:10444", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:111520007 {source="DOID:10444", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155068 {source="DOID:10444", source="MONDO:equivalentTo"}
is_a: MONDO:0004577 {source="DOID:10444", source="linkedlifedata"} ! corneal ulcer
property_value: closeMatch http://identifiers.org/snomedct/193760005
property_value: exactMatch DOID:10444
property_value: exactMatch http://identifiers.org/snomedct/111520007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155068

[Term]
id: MONDO:0001038
name: perforated corneal ulcer
xref: COHD:376119 {source="MONDO:equivalentTo"}
xref: DOID:10445 {source="MONDO:equivalentTo"}
xref: ICD10:H16.07 {source="DOID:10445"}
xref: ICD9:370.06 {source="DOID:10445", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:46606001 {source="DOID:10445", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0151844 {source="DOID:10445", source="MONDO:equivalentTo"}
is_a: MONDO:0004577 {source="DOID:10445", source="linkedlifedata"} ! corneal ulcer
property_value: exactMatch DOID:10445
property_value: exactMatch http://identifiers.org/snomedct/46606001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151844

[Term]
id: MONDO:0001039
name: tonsillitis
def: "Inflammation of the tonsillar tissue." [NCIT:P378]
synonym: "chronic tonsillitis" EXACT [DOID:10456]
synonym: "inflammation of tonsil" EXACT []
synonym: "throat infection - tonsillitis" EXACT [DOID:10456]
synonym: "tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "tonsilitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:23220 {source="MONDO:equivalentTo"}
xref: DOID:10456 {source="MONDO:equivalentTo"}
xref: ICD10:J35.01 {source="DOID:10456", source="MONDO:equivalentTo"}
xref: ICD9:474.00 {source="DOID:10456", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014069 {source="DOID:10456", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116006 {source="DOID:10456", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:90979004 {source="DOID:10456", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11"}
xref: UMLS:C0040425 {source="DOID:10456", source="MONDO:equivalentTo", source="NCIT:C116006"}
xref: UMLS:C0149517 {source="DOID:10456", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004867 {source="DOID:10456", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0044986 ! lymphoid system disease
property_value: closeMatch http://identifiers.org/snomedct/155530006
property_value: closeMatch http://identifiers.org/snomedct/195665006
property_value: closeMatch http://identifiers.org/snomedct/195794009
property_value: closeMatch http://identifiers.org/snomedct/90176007
property_value: exactMatch DOID:10456
property_value: exactMatch http://identifiers.org/mesh/D014069
property_value: exactMatch http://identifiers.org/snomedct/90979004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149517
property_value: exactMatch NCIT:C116006

[Term]
id: MONDO:0001040
name: nasopharyngitis
def: "An inflammatory process that affects the nasopharynx." [NCIT:P378]
synonym: "chronic nasopharyngitis" EXACT [DOID:10460]
synonym: "inflammation of nasopharynx" EXACT []
synonym: "nasopharynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:441321 {source="MONDO:equivalentTo"}
xref: DOID:10460 {source="MONDO:equivalentTo"}
xref: ICD10:J00 {source="DOID:10460"}
xref: ICD10:J31.1 {source="DOID:10460"}
xref: ICD9:472.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:10460"}
xref: MESH:D009304 {source="MONDO:equivalentTo", source="DOID:10460", source="MONDO:ontobio"}
xref: NCIT:C34837 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:10460"}
xref: SCTID:47841006 {source="MONDO:equivalentTo", source="DOID:10460", source="MONDO:kboom-pr-0.86/0.69/0.23"}
xref: UMLS:C0027441 {source="NCIT:C34837", source="MONDO:equivalentTo", source="DOID:10460"}
xref: UMLS:C0155826 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:10460"}
is_a: MONDO:0004821 {source="DOID:10460", source="MESH:D009304", source="MONDO:Redundant", source="NCIT:C34837", source="linkedlifedata", source="linkedlifedata/inferred"} ! nasopharyngeal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155524006
property_value: closeMatch http://identifiers.org/snomedct/51476001
property_value: exactMatch DOID:10460
property_value: exactMatch http://identifiers.org/mesh/D009304
property_value: exactMatch http://identifiers.org/snomedct/47841006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155826
property_value: exactMatch NCIT:C34837

[Term]
id: MONDO:0001041
name: dentin caries
def: "A dental caries that involves the dentine." [MONDO:patterns/location]
synonym: "compound dental caries" EXACT [DOID:10461]
synonym: "dental caries extending into dentine" EXACT [DOID:10461, ICD9CM_2006:521.02]
synonym: "dental caries of dentine" EXACT [MONDO:design_pattern]
synonym: "dentin caries, NOS" RELATED EXCLUDE [DOID:10461]
synonym: "dentine dental caries" EXACT [MONDO:patterns/location]
xref: DOID:10461 {source="MONDO:equivalentTo"}
xref: ICD10:K02.1 {source="MONDO:equivalentTo"}
xref: ICD9:521.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:10461"}
xref: SCTID:442551007 {source="MONDO:equivalentTo", source="DOID:10461", source="MONDO:kboom-pr-1.00/0.80/9.98"}
xref: UMLS:C0266846 {source="MONDO:equivalentTo", source="DOID:10461"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005276 {source="DOID:10461", source="ICD10:K02.1", source="MONDO:Redundant", source="linkedlifedata"} ! dental caries
property_value: closeMatch http://identifiers.org/snomedct/44828002
property_value: closeMatch http://identifiers.org/snomedct/50047001
property_value: exactMatch DOID:10461
property_value: exactMatch http://identifiers.org/snomedct/442551007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266846

[Term]
id: MONDO:0001042
name: patellar tendinitis
def: "A tendinitis that involves the patella." [MONDO:patterns/location]
synonym: "patella tendinitis" EXACT [MONDO:patterns/location]
synonym: "patellar tendonitis" EXACT [DOID:10471]
synonym: "tendinitis of patella" EXACT [MONDO:design_pattern]
xref: DOID:10471 {source="MONDO:equivalentTo"}
xref: ICD10:M76.5 {source="MONDO:equivalentTo", source="DOID:10471"}
xref: ICD10:M76.50 {source="DOID:10471"}
xref: ICD9:726.64 {source="MONDO:equivalentTo", source="i2s", source="DOID:10471"}
xref: SCTID:37785001 {source="MONDO:equivalentTo", source="DOID:10471", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0158317 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:10471"}
is_a: MONDO:0004857 {source="DOID:10471", source="MONDO:Redundant", source="linkedlifedata"} ! tendinitis
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156662006
property_value: closeMatch http://identifiers.org/snomedct/268089006
property_value: exactMatch DOID:10471
property_value: exactMatch http://identifiers.org/snomedct/37785001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158317

[Term]
id: MONDO:0001043
name: obsolete diaphragm disease
is_obsolete: true
replaced_by: MONDO:0005728

[Term]
id: MONDO:0001044
name: esophageal atresia (disease)
def: "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." [NCIT:P378]
synonym: "congenital atresia of esophagus" EXACT [DOID:10485]
synonym: "congenital esophageal atresia" EXACT [NCIT:C87072]
synonym: "congenital imperforate esophagus" EXACT [DOID:10485, MTHICD9_2006:750.3]
synonym: "esophageal atresia" EXACT [MONDO:ambiguous]
synonym: "imperforate esophagus" EXACT [DOID:10485]
synonym: "oesophageal atresia" EXACT [DOID:10485]
xref: DOID:10485 {source="MONDO:equivalentTo"}
xref: GARD:0006381 {source="MONDO:equivalentTo"}
xref: HP:0002032 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q39.0 {source="DOID:10485"}
xref: ICD9:750.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004933 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10485"}
xref: NCIT:C87072 {source="MONDO:equivalentTo", source="DOID:10485", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:26179002 {source="MONDO:equivalentTo", source="DOID:10485", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003749 {source="DOID:10485", source="MESH:D004933", source="NCIT:C87072/inferred", source="linkedlifedata/inferred"} ! esophageal disease
property_value: closeMatch http://identifiers.org/snomedct/156947007
property_value: closeMatch http://identifiers.org/snomedct/204656005
property_value: exactMatch DOID:10485
property_value: exactMatch http://identifiers.org/mesh/D004933
property_value: exactMatch http://identifiers.org/snomedct/26179002
property_value: exactMatch NCIT:C87072

[Term]
id: MONDO:0001045
name: intestinal atresia (disease)
def: "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." [NCIT:P378]
synonym: "atresia of the intestine" EXACT [NCIT:C84790]
synonym: "congenital intestinal atresia" EXACT [NCIT:C84790]
synonym: "intestinal atresia" EXACT [MONDO:ambiguous]
xref: DOID:10486 {source="MONDO:equivalentTo"}
xref: HP:0011100 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q41.1 {source="DOID:10486"}
xref: NCIT:C84790 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10486"}
xref: UMLS:C0021828 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84790", source="DOID:10486"}
is_a: MONDO:0005020 {source="DOID:10486", source="NCIT:C84790/inferred"} ! intestinal disease
property_value: closeMatch http://identifiers.org/mesh/D007409
property_value: exactMatch DOID:10486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021828
property_value: exactMatch NCIT:C84790

[Term]
id: MONDO:0001046
name: imperforate anus
def: "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." [NCIT:P378]
comment: Consider obsoleting as dupe with HPO
synonym: "anal atresia" EXACT [DOID:10488, NCIT:C84784]
synonym: "anal stenosis" RELATED [GARD:0006769]
synonym: "anorectal malformations" RELATED [GARD:0006769]
synonym: "anus, imperforate" EXACT [OMIM:207500, OMIM:301800]
synonym: "congenital atresia of anus" EXACT [DOID:10488]
synonym: "congenital or infantile occlusion of anus" EXACT [DOID:10488, MTHICD9_2006:751.2]
synonym: "imperforate anus" EXACT [DOID:10488, NCIT:C84784]
xref: DOID:10488 {source="MONDO:equivalentTo"}
xref: GARD:0006769 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q42.3 {source="DOID:10488"}
xref: MESH:D001006 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: NCIT:C84784 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: OMIM:207500 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: OMIM:301800 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: SCTID:204731006 {source="DOID:10488", source="MONDO:kboom-pr-0.89/0.77/0.06", source="MONDO:equivalentTo"}
is_a: MONDO:0002519 ! anus disease
is_a: MONDO:0018916 {source="ORDO:557/btnt"} ! isolated anorectal malformation
property_value: closeMatch http://identifiers.org/snomedct/14118000
property_value: closeMatch http://identifiers.org/snomedct/156956004
property_value: closeMatch http://identifiers.org/snomedct/204712000
property_value: closeMatch http://identifiers.org/snomedct/204733009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003466
property_value: exactMatch DOID:10488
property_value: exactMatch http://identifiers.org/mesh/D001006
property_value: exactMatch http://identifiers.org/omim/207500
property_value: exactMatch http://identifiers.org/omim/301800
property_value: exactMatch http://identifiers.org/snomedct/204731006
property_value: exactMatch NCIT:C84784

[Term]
id: MONDO:0001047
name: obsolete adrenal cortical hypofunction
is_obsolete: true
replaced_by: MONDO:0000004

[Term]
id: MONDO:0001048
name: orbital granuloma
def: "A granuloma located on the orbit of the eye." [NCIT:P378]
xref: COHD:434953 {source="MONDO:equivalentTo"}
xref: DOID:10499 {source="MONDO:equivalentTo"}
xref: ICD10:H05.11 {source="DOID:10499"}
xref: ICD9:376.11 {source="DOID:10499", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:72776003 {source="DOID:10499", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155262 {source="DOID:10499", source="MONDO:equivalentTo"}
is_a: MONDO:0001849 {source="DOID:10499", source="linkedlifedata"} ! chronic orbital inflammation
property_value: closeMatch http://identifiers.org/snomedct/194008000
property_value: exactMatch DOID:10499
property_value: exactMatch http://identifiers.org/snomedct/72776003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155262
property_value: exactMatch NCIT:C3653

[Term]
id: MONDO:0001049
name: Dressler syndrome
def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium." [DOID:10507, http://en.wikipedia.org/wiki/Dressler%27s_syndrome, http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307]
comment: Editor note: TODO
synonym: "Dressler syndrome" EXACT [DOID:10507]
synonym: "Dressler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "postmyocardial infarction syndrome" EXACT [DOID:10507, ICD9CM_2006:411.0]
xref: COHD:319038 {source="MONDO:equivalentTo"}
xref: DOID:10507 {source="MONDO:equivalentTo"}
xref: ICD10:I24.1 {source="MONDO:equivalentTo", source="DOID:10507"}
xref: ICD9:411.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10507"}
xref: SCTID:66189004 {source="MONDO:equivalentTo", source="DOID:10507", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152107 {source="MONDO:equivalentTo", source="DOID:10507"}
is_a: MONDO:0005904 {source="DOID:10507", source="linkedlifedata"} ! pericarditis (disease)
property_value: exactMatch DOID:10507
property_value: exactMatch http://identifiers.org/snomedct/66189004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152107

[Term]
id: MONDO:0001050
name: malignant otitis externa
def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." [DOID:10516, http://www.merck.com/mmhe/sec19/ch219/ch219c.html, http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm]
xref: COHD:437881 {source="MONDO:equivalentTo"}
xref: DOID:10516 {source="MONDO:equivalentTo"}
xref: ICD10:H60.2 {source="MONDO:equivalentTo", source="DOID:10516"}
xref: ICD10:H60.20 {source="DOID:10516"}
xref: ICD9:380.14 {source="MONDO:equivalentTo", source="DOID:10516", source="i2s"}
xref: SCTID:94146005 {source="MONDO:equivalentTo", source="DOID:10516", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C0155395 {source="MONDO:equivalentTo", source="DOID:10516"}
is_a: MONDO:0004795 {source="DOID:10516", source="ICD10:H60.2", source="MONDOLEX:0001050", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis externa
property_value: closeMatch http://identifiers.org/snomedct/194206006
property_value: exactMatch DOID:10516
property_value: exactMatch http://identifiers.org/snomedct/94146005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155395

[Term]
id: MONDO:0001051
name: acute otitis externa
def: "Acute form of otitis externa." [MONDO:design_pattern]
synonym: "acute bacterial inflammation of external ear" EXACT [DOID:10518]
synonym: "acute otitis externa" EXACT [UMLS:C0149948]
synonym: "acute otitis externa, diffuse" EXACT [DOID:10518, MTHICD9_2006:380.10]
synonym: "acute swimmer's ear" EXACT [DOID:10518]
synonym: "acute swimmers' ear" EXACT [DOID:10518, ICD9CM_2006:380.12]
synonym: "beach ear" EXACT [DOID:10518]
synonym: "otitis externa, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
synonym: "tank ear" EXACT [DOID:10518, MTHICD9_2006:380.12]
xref: DOID:10518 {source="MONDO:equivalentTo"}
xref: ICD9:380.12 {source="DOID:10518"}
xref: MEDGEN:508459 {source="UMLS:C0149948"}
xref: SCTID:30250000 {source="MONDO:equivalentTo", source="DOID:10518", source="UMLS:C0149948"}
xref: UMLS:C0149948 {source="MONDO:equivalentTo"}
is_a: MONDO:0004795 {source="DOID:10518", source="MONDO:Redundant", source="MONDOLEX:0001051", source="linkedlifedata"} ! otitis externa
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/medgen/508459
property_value: closeMatch http://identifiers.org/snomedct/194201001
property_value: closeMatch http://identifiers.org/snomedct/39149004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155393
property_value: exactMatch DOID:10518
property_value: exactMatch http://identifiers.org/snomedct/30250000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149948

[Term]
id: MONDO:0001052
name: chronic fungal otitis externa
def: "Chronic form of otomycosis." [MONDO:patterns/chronic]
synonym: "chronic mycotic otitis externa" EXACT [DOID:10519, ICD9CM_2006:380.15]
synonym: "chronic otomycosis" EXACT [MONDO:design_pattern]
synonym: "otomycosis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: COHD:373200 {source="MONDO:equivalentTo"}
xref: DOID:10519 {source="MONDO:equivalentTo"}
xref: ICD9:380.15 {source="MONDO:equivalentTo", source="DOID:10519", source="i2s"}
xref: SCTID:111898002 {source="MONDO:equivalentTo", source="DOID:10519", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155396 {source="MONDO:equivalentTo", source="DOID:10519"}
is_a: MONDO:0000262 {source="DOID:10519", source="MONDO:Redundant", source="linkedlifedata"} ! otomycosis
property_value: closeMatch http://identifiers.org/snomedct/194209004
property_value: exactMatch DOID:10519
property_value: exactMatch http://identifiers.org/snomedct/111898002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155396

[Term]
id: MONDO:0001053
name: acute infection of pinna
def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." [DOID:10520, http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false]
xref: COHD:374947 {source="MONDO:equivalentTo"}
xref: DOID:10520 {source="MONDO:equivalentTo"}
xref: ICD9:380.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:10520"}
xref: SCTID:56663002 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="MONDO:equivalentTo", source="DOID:10520"}
xref: UMLS:C0155392 {source="MONDO:equivalentTo", source="DOID:10520"}
is_a: MONDO:0004795 {source="DOID:10520"} ! otitis externa
property_value: exactMatch DOID:10520
property_value: exactMatch http://identifiers.org/snomedct/56663002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155392

[Term]
id: MONDO:0001054
name: double pterygium
xref: COHD:375549 {source="MONDO:equivalentTo"}
xref: DOID:10525 {source="MONDO:equivalentTo"}
xref: ICD9:372.44 {source="DOID:10525", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:41564009 {source="DOID:10525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155157 {source="DOID:10525", source="MONDO:equivalentTo"}
is_a: MONDO:0005085 {source="DOID:10525", source="linkedlifedata"} ! pterygium
property_value: closeMatch http://identifiers.org/snomedct/193883003
property_value: exactMatch DOID:10525
property_value: exactMatch http://identifiers.org/snomedct/41564009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155157

[Term]
id: MONDO:0001055
name: conjunctival pterygium
synonym: "web eye" EXACT [DOID:10526]
xref: DOID:10526 {source="MONDO:equivalentTo"}
is_a: MONDO:0000949 {source="DOID:10526"} ! conjunctival degeneration
is_a: MONDO:0005085 {source="DOID:10526"} ! pterygium
property_value: exactMatch DOID:10526

[Term]
id: MONDO:0001056
name: gastric cancer
def: "A primary or metastatic malignant neoplasm involving the stomach." [NCIT:C9331]
synonym: "Ca body - stomach" NARROW [DOID:10534]
synonym: "ca greater curvature of stomach" NARROW [DOID:10534]
synonym: "Ca lesser curvature - stomach" EXACT [DOID:10534]
synonym: "cancer of stomach" EXACT [MONDO:patterns/cancer]
synonym: "gastric cancer" EXACT [DOID:10534]
synonym: "gastric cancer, intestinal" RELATED [OMIM:613659]
synonym: "gastric neoplasm" BROAD [CSP2005:2010-1611, DOID:10534, NCIT:C3387]
synonym: "malignant gastric neoplasm" EXACT [NCIT:C9331]
synonym: "malignant gastric tumor" EXACT [NCIT:C9331]
synonym: "malignant neoplasm of body of stomach" NARROW [DOID:10534]
synonym: "malignant neoplasm of lesser curve of stomach" EXACT [DOID:10534]
synonym: "malignant neoplasm of stomach" EXACT [MONDO:patterns/cancer, NCIT:C9331]
synonym: "malignant neoplasm of the stomach" EXACT [NCIT:C9331]
synonym: "malignant stomach neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of body of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of greater curve of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of lesser curve of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of stomach" EXACT [NCIT:C9331]
synonym: "malignant tumor of the stomach" EXACT [NCIT:C9331]
synonym: "stomach cancer" EXACT [MONDO:patterns/location]
xref: COHD:443387 {source="MONDO:equivalentTo"}
xref: DC:0000523 {source="MONDO:equivalentTo"}
xref: DOID:10534 {source="MONDO:equivalentTo"}
xref: GARD:0007704 {source="MONDO:equivalentTo"}
xref: ICD10:C16 {source="DOID:10534", source="MONDO:equivalentTo"}
xref: ICD10:C16.2 {source="DOID:10534"}
xref: ICD10:C16.5 {source="DOID:10534"}
xref: ICD10:C16.6 {source="DOID:10534"}
xref: ICD10:C16.9 {source="DOID:10534"}
xref: ICD9:151 {source="DOID:10534"}
xref: ICD9:151.4 {source="DOID:10534"}
xref: ICD9:151.5 {source="DOID:10534"}
xref: ICD9:151.6 {source="DOID:10534"}
xref: ICD9:151.9 {source="DOID:10534"}
xref: NCIT:C9331 {source="DOID:10534", source="MONDO:equivalentTo"}
xref: OMIM:613659 {source="DOID:10534", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
is_a: MONDO:0002516 {source="DOID:10534", source="ICD10:C16", source="MONDO:Redundant", source="NCIT:C9331"} ! digestive system cancer
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C9331"} ! gastric neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154450001
property_value: closeMatch http://identifiers.org/snomedct/154451002
property_value: closeMatch http://identifiers.org/snomedct/154452009
property_value: closeMatch http://identifiers.org/snomedct/154453004
property_value: closeMatch http://identifiers.org/snomedct/187731004
property_value: closeMatch http://identifiers.org/snomedct/187742008
property_value: closeMatch http://identifiers.org/snomedct/187743003
property_value: closeMatch http://identifiers.org/snomedct/187744009
property_value: closeMatch http://identifiers.org/snomedct/187750004
property_value: closeMatch http://identifiers.org/snomedct/255080008
property_value: closeMatch http://identifiers.org/snomedct/269458007
property_value: closeMatch http://identifiers.org/snomedct/269459004
property_value: closeMatch http://identifiers.org/snomedct/269460009
property_value: closeMatch http://identifiers.org/snomedct/269529007
property_value: closeMatch http://identifiers.org/snomedct/269530002
property_value: closeMatch http://identifiers.org/snomedct/269531003
property_value: closeMatch http://identifiers.org/snomedct/269532005
property_value: closeMatch http://identifiers.org/snomedct/363349007
property_value: closeMatch http://identifiers.org/snomedct/93717002
property_value: closeMatch http://identifiers.org/snomedct/93818001
property_value: closeMatch http://identifiers.org/snomedct/93867004
property_value: closeMatch http://identifiers.org/snomedct/94074003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024623
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153421
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153422
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153423
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150911
property_value: exactMatch DOID:10534
property_value: exactMatch http://identifiers.org/omim/613659
property_value: exactMatch NCIT:C9331

[Term]
id: MONDO:0001057
name: malignant gastric granular cell tumor
def: "A metastasizing granular cell tumor that arises from the stomach." [NCIT:C5484]
synonym: "malignant gastric granular cell neoplasm" EXACT [NCIT:C5484]
synonym: "malignant gastric granular cell tumor" EXACT [NCIT:C5484]
synonym: "malignant granular cell neoplasm of stomach" EXACT [NCIT:C5484]
synonym: "malignant granular cell neoplasm of the stomach" EXACT [NCIT:C5484]
synonym: "malignant granular cell stomach neoplasm" EXACT [NCIT:C5484]
synonym: "malignant granular cell stomach tumor" EXACT [NCIT:C5484]
synonym: "malignant granular cell tumor of stomach" EXACT [DOID:10536, NCIT:C5484]
synonym: "malignant granular cell tumor of the stomach" EXACT [NCIT:C5484]
xref: DOID:10536 {source="MONDO:equivalentTo"}
xref: NCIT:C5484 {source="DOID:10536", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334585 {source="NCIT:C5484", source="DOID:10536", source="MONDO:equivalentTo"}
is_a: MONDO:0001056 {source="DOID:10536", source="NCIT:C5484"} ! gastric cancer
is_a: MONDO:0003252 {source="MONDOLEX:0001057", source="NCIT:C5484"} ! granular cell cancer
property_value: exactMatch DOID:10536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334585
property_value: exactMatch NCIT:C5484

[Term]
id: MONDO:0001058
name: obsolete gastric fundus cancer
is_obsolete: true
replaced_by: MONDO:0004950

[Term]
id: MONDO:0001059
name: gastric lymphoma
def: "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C4636]
synonym: "gastric lymphoma" EXACT [NCIT:C4636]
synonym: "lymphoma of stomach" EXACT [NCIT:C4636]
synonym: "lymphoma of the stomach" EXACT [DOID:10540, NCIT:C4636]
synonym: "primary gastric lymphoma" EXACT [NCIT:C4636]
synonym: "stomach lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:10540 {source="MONDO:equivalentTo"}
xref: ICD9:202.83 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4636 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:10540"}
xref: SCTID:276811008 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10540"}
xref: UMLS:C0349532 {source="MONDO:equivalentTo", source="DOID:10540", source="NCIT:C4636"}
is_a: MONDO:0001056 {source="DOID:10540", source="MONDO:Redundant", source="NCIT:C4636"} ! gastric cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4636", source="linkedlifedata"} ! gastrointestinal lymphoma
property_value: closeMatch http://identifiers.org/mesh/C535648
property_value: exactMatch DOID:10540
property_value: exactMatch http://identifiers.org/snomedct/276811008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349532
property_value: exactMatch NCIT:C4636

[Term]
id: MONDO:0001060
name: microinvasive gastric cancer
def: "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." [NCIT:P378]
synonym: "early gastric cancer" EXACT [NCIT:C27131]
synonym: "EGC" EXACT [NCIT:C27131]
synonym: "superficial gastric cancer" EXACT [NCIT:C27131]
synonym: "superficial spreading gastric cancer" EXACT [NCIT:C27131]
synonym: "surface gastric cancer" EXACT [DOID:10541, NCIT:C27131]
xref: DOID:10541 {source="MONDO:equivalentTo"}
xref: NCIT:C27131 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10541"}
xref: SCTID:276809004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10541"}
xref: UMLS:C0349530 {source="NCIT:C27131", source="MONDO:equivalentTo", source="DOID:10541"}
is_a: MONDO:0005036 {source="DOID:10541", source="NCIT:C27131/inferred"} ! gastric adenocarcinoma
property_value: exactMatch DOID:10541
property_value: exactMatch http://identifiers.org/snomedct/276809004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349530
property_value: exactMatch NCIT:C27131

[Term]
id: MONDO:0001061
name: pylorus cancer
def: "A malignant neoplasm involving the pylorus." [MONDO:DesignPattern]
synonym: "Ca pylorus - stomach" EXACT [DOID:10544]
synonym: "cancer of pylorus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Prepylorus" EXACT [DOID:10544, MTHICD9_2006:151.1]
synonym: "malignant neoplasm of pylorus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pylorus of stomach" EXACT [DOID:10544]
synonym: "malignant pylorus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pylorus" EXACT [DOID:10544]
synonym: "pylorus cancer" EXACT [MONDO:patterns/location]
xref: DOID:10544 {source="MONDO:equivalentTo"}
xref: ICD10:C16.4 {source="DOID:10544"}
xref: ICD9:151.1 {source="DOID:10544", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:187736009 {source="DOID:10544", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153418 {source="DOID:10544", source="MONDO:equivalentTo"}
is_a: MONDO:0001056 {source="DOID:10544", source="MONDO:Entailed", source="MONDO:Redundant"} ! gastric cancer
property_value: closeMatch http://identifiers.org/snomedct/154448009
property_value: closeMatch http://identifiers.org/snomedct/187739002
property_value: closeMatch http://identifiers.org/snomedct/269527009
property_value: exactMatch DOID:10544
property_value: exactMatch http://identifiers.org/snomedct/187736009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153418

[Term]
id: MONDO:0001062
name: pyloric antrum cancer
def: "A malignant neoplasm involving the pyloric antrum." [MONDO:DesignPattern]
synonym: "cancer of pyloric antrum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of antrum of stomach" EXACT [DOID:10547]
synonym: "malignant neoplasm of antrum of stomach NOS" RELATED EXCLUDE [DOID:10547, MTHICD9_2006:151.2]
synonym: "malignant neoplasm of pyloric antrum" EXACT [MONDO:patterns/cancer]
synonym: "malignant pyloric antrum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pyloric antrum" EXACT [DOID:10547]
synonym: "pyloric antrum cancer" EXACT [MONDO:patterns/location]
xref: DOID:10547 {source="MONDO:equivalentTo"}
xref: ICD10:C16.3 {source="DOID:10547"}
xref: ICD9:151.2 {source="DOID:10547", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:187740000 {source="DOID:10547", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153419 {source="MEDGEN:kboom-pr98-c99", source="DOID:10547", source="MONDO:equivalentTo"}
is_a: MONDO:0001061 {source="DOID:10547", source="MONDO:Entailed", source="MONDO:Redundant"} ! pylorus cancer
property_value: closeMatch http://identifiers.org/snomedct/93976007
property_value: exactMatch DOID:10547
property_value: exactMatch http://identifiers.org/snomedct/187740000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153419

[Term]
id: MONDO:0001063
name: cardia cancer
def: "A malignant neoplasm involving the cardia of stomach." [MONDO:DesignPattern]
synonym: "Ca cardia - stomach" EXACT [DOID:10548]
synonym: "cancer of cardia of stomach" EXACT [MONDO:patterns/cancer]
synonym: "cardia of stomach cancer" EXACT [MONDO:patterns/location]
synonym: "malignant cardia of stomach neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cardia of stomach" EXACT [DOID:10548, MONDO:patterns/cancer]
xref: DOID:10548 {source="MONDO:equivalentTo"}
xref: ICD10:C16.0 {source="DOID:10548"}
xref: ICD9:151.0 {source="DOID:10548", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:187732006 {source="MONDO:kboom-pr-1.00/0.80/9.37", source="DOID:10548", source="MONDO:equivalentTo"}
xref: UMLS:C0153417 {source="DOID:10548", source="MONDO:equivalentTo"}
is_a: MONDO:0001056 {source="DOID:10548", source="MONDO:Redundant", source="MONDOLEX:0001063"} ! gastric cancer
property_value: closeMatch http://identifiers.org/snomedct/154447004
property_value: closeMatch http://identifiers.org/snomedct/187735008
property_value: closeMatch http://identifiers.org/snomedct/269526000
property_value: closeMatch http://identifiers.org/snomedct/93738008
property_value: exactMatch DOID:10548
property_value: exactMatch http://identifiers.org/snomedct/187732006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153417

[Term]
id: MONDO:0001064
name: acute eustachian salpingitis
def: "Acute form of otosalpingitis." [MONDO:patterns/acute]
synonym: "acute eustachian tube salpingitis" EXACT [DOID:10550]
synonym: "acute otosalpingitis" EXACT [MONDO:design_pattern]
synonym: "otosalpingitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: DOID:10550 {source="MONDO:equivalentTo"}
xref: ICD10:H68.01 {source="DOID:10550"}
xref: ICD10:H68.019 {source="DOID:10550"}
xref: ICD9:381.51 {source="MONDO:equivalentTo", source="i2s", source="DOID:10550"}
xref: SCTID:194268005 {source="MONDO:equivalentTo", source="DOID:10550", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155429 {source="MONDO:equivalentTo", source="DOID:10550"}
is_a: MONDO:0002172 {source="DOID:10550", source="MONDO:Redundant", source="linkedlifedata"} ! otosalpingitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/13043002
property_value: exactMatch DOID:10550
property_value: exactMatch http://identifiers.org/snomedct/194268005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155429

[Term]
id: MONDO:0001065
name: supine hypotensive syndrome
def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [DOID:10556, PMID:22537582, PMID:8164943]
synonym: "antepartum maternal hypotension syndrome" RELATED [DOID:10556]
synonym: "maternal hypotension syndrome" RELATED []
synonym: "postpartum maternal hypotension syndrome" RELATED [DOID:10556]
xref: DOID:10556 {source="MONDO:equivalentTo"}
xref: HP:0008071
xref: ICD9:669.20 {source="DOID:10556", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:88887003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0005468 {source="MONDOLEX"} ! hypotensive disorder
is_a: MONDO:0024575 ! pregnancy disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157456
property_value: exactMatch DOID:10556
property_value: exactMatch http://identifiers.org/snomedct/88887003

[Term]
id: MONDO:0001066
name: late yaws
def: "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." [NCIT:P378]
synonym: "gummata and ulcers due to yaws" EXACT [DOID:10567, ICD9CM_2006:102.4]
synonym: "gummata of yaws" EXACT [DOID:10567]
synonym: "gummatous frambeside" EXACT [DOID:10567]
synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [DOID:10567]
synonym: "nodular late yaws" EXACT [DOID:10567, MTHICD9_2006:102.4]
synonym: "ulcers of yaws" EXACT [DOID:10567]
synonym: "yaws gummata and ulcers" EXACT [DOID:10567]
xref: DOID:10567 {source="MONDO:equivalentTo"}
xref: ICD10:A66.1 {source="DOID:10567"}
xref: ICD10:A66.4 {source="DOID:10567"}
xref: ICD9:102.1 {source="DOID:10567"}
xref: ICD9:102.4 {source="DOID:10567", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C41354 {source="DOID:10567", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:186968004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:10567", source="MONDO:equivalentTo"}
xref: UMLS:C0276007 {source="MEDGEN:kboom-pr97-c98", source="DOID:10567", source="MONDO:equivalentTo"}
xref: UMLS:C1517744 {source="DOID:10567", source="MONDO:equivalentTo", source="NCIT:C41354"}
is_a: MONDO:0006019 {source="DOID:10567", source="NCIT:C41354", source="linkedlifedata"} ! yaws
is_a: MONDO:0006718 ! cutaneous syphilis
property_value: closeMatch http://identifiers.org/snomedct/22071004
property_value: closeMatch http://identifiers.org/snomedct/57186002
property_value: closeMatch http://identifiers.org/snomedct/68556002
property_value: closeMatch http://identifiers.org/snomedct/69008006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153234
property_value: exactMatch DOID:10567
property_value: exactMatch http://identifiers.org/snomedct/186968004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517744
property_value: exactMatch NCIT:C41354

[Term]
id: MONDO:0001067
name: early yaws
def: "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." [NCIT:P378]
synonym: "bone and joint lesions due to yaws" EXACT [DOID:10568, ICD9CM_2006:102.6]
synonym: "bone and joint yaws lesion" EXACT [DOID:10568]
synonym: "chancre of yaws" EXACT [DOID:10568]
synonym: "frambesia, initial or primary" EXACT [DOID:10568, MTHICD9_2006:102.0]
synonym: "initial frambesial ulcer" EXACT [DOID:10568]
synonym: "initial lesions of yaws" EXACT [DOID:10568, ICD9CM_2006:102.0]
synonym: "primary frambesia" EXACT [DOID:10568]
xref: DOID:10568 {source="MONDO:equivalentTo"}
xref: ICD10:A66.0 {source="DOID:10568"}
xref: ICD10:A66.6 {source="DOID:10568"}
xref: ICD9:102.0 {source="DOID:10568"}
xref: ICD9:102.2 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:102.6 {source="DOID:10568"}
xref: NCIT:C41352 {source="DOID:10568", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:23191004 {source="DOID:10568", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.77/0.66"}
xref: UMLS:C0275998 {source="DOID:10568", source="MONDO:equivalentTo", source="NCIT:C41352"}
is_a: MONDO:0006019 {source="DOID:10568", source="NCIT:C41352", source="linkedlifedata", source="linkedlifedata/inferred"} ! yaws
property_value: closeMatch http://identifiers.org/snomedct/186969007
property_value: closeMatch http://identifiers.org/snomedct/266147005
property_value: closeMatch http://identifiers.org/snomedct/30283007
property_value: closeMatch http://identifiers.org/snomedct/49442000
property_value: closeMatch http://identifiers.org/snomedct/59227007
property_value: closeMatch http://identifiers.org/snomedct/77912009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0275990
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343834
property_value: exactMatch DOID:10568
property_value: exactMatch http://identifiers.org/snomedct/23191004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275998
property_value: exactMatch NCIT:C41352

[Term]
id: MONDO:0001068
name: osteomalacia (disease)
def: "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" [NCIT:P378]
synonym: "osteomalacia" EXACT [MONDO:ambiguous]
xref: COHD:432594 {source="MONDO:equivalentTo"}
xref: DOID:10573 {source="MONDO:equivalentTo"}
xref: EFO:1002027 {source="MONDO:equivalentTo"}
xref: GARD:0007285 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0002749 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:268.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:10573"}
xref: MESH:D010018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26838 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10573"}
xref: SCTID:4598005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10573"}
is_a: MONDO:0000833 {source="DOID:10573"} ! bone remodeling disease
property_value: closeMatch http://identifiers.org/snomedct/154728003
property_value: closeMatch http://identifiers.org/snomedct/190639009
property_value: closeMatch http://identifiers.org/snomedct/190642003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029442
property_value: exactMatch DOID:10573
property_value: exactMatch http://identifiers.org/mesh/D010018
property_value: exactMatch http://identifiers.org/snomedct/4598005
property_value: exactMatch NCIT:C26838

[Term]
id: MONDO:0001069
name: obsolete leukodystrophy
is_obsolete: true
replaced_by: MONDO:0019046

[Term]
id: MONDO:0001070
name: obsolete adrenoleukodystrophy
is_obsolete: true
replaced_by: MONDO:0018544

[Term]
id: MONDO:0001071
name: intellectual disability
def: "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." [NCIT:C97250]
synonym: "intellectual disabilities" EXACT [NCIT:C97250]
synonym: "mental retardation" RELATED DEPRECATED [ICD10:F70.F79]
xref: DOID:1059 {source="MONDO:equivalentTo"}
xref: EFO:0003847 {source="MONDO:equivalentTo"}
xref: GARD:0011963 {source="MONDO:equivalentTo"}
xref: ICD10:F70.F79 {source="MONDO:equivalentTo"}
xref: ICD9:319 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008607 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97250 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:91138005 {source="MONDO:equivalentTo", source="DOID:1059"}
is_a: MONDO:0005503 {source="DOID:1059/inferred", source="linkedlifedata"} ! developmental disorder of mental health
property_value: closeMatch http://identifiers.org/snomedct/154979000
property_value: closeMatch http://identifiers.org/snomedct/192157003
property_value: closeMatch http://identifiers.org/snomedct/192557008
property_value: closeMatch http://identifiers.org/snomedct/268732001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025362
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714756
property_value: exactMatch DOID:1059
property_value: exactMatch http://identifiers.org/mesh/D008607
property_value: exactMatch http://identifiers.org/snomedct/91138005
property_value: exactMatch NCIT:C97250

[Term]
id: MONDO:0001072
name: mild pre-eclampsia
def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." [DOID:10590, http://emedicine.medscape.com/article/1476919-overview]
xref: COHD:314090 {source="MONDO:equivalentTo"}
xref: DOID:10590 {source="MONDO:equivalentTo"}
xref: ICD9:642.40 {source="MONDO:subClassOf", source="DOID:10590"}
xref: ICD9:642.41 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.42 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.43 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.44 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:41114007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005081 {source="DOID:10590", source="MONDOLEX:0001072", source="linkedlifedata"} ! preeclampsia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156664
property_value: exactMatch DOID:10590
property_value: exactMatch http://identifiers.org/snomedct/41114007

[Term]
id: MONDO:0001073
name: idiopathic progressive polyneuropathy
xref: COHD:380394 {source="MONDO:equivalentTo"}
xref: DOID:10593 {source="MONDO:equivalentTo"}
xref: ICD9:356.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:10593"}
xref: SCTID:33209009 {source="MONDO:equivalentTo", source="DOID:10593", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154756 {source="MONDO:equivalentTo", source="DOID:10593"}
is_a: MONDO:0001824 {source="DOID:10593", source="MONDOLEX:0001073", source="linkedlifedata"} ! polyneuropathy
property_value: closeMatch http://identifiers.org/snomedct/193164007
property_value: exactMatch DOID:10593
property_value: exactMatch http://identifiers.org/snomedct/33209009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154756

[Term]
id: MONDO:0001074
name: chronic tic disorder
def: "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." [NCIT:P378]
synonym: "chronic motor or vocal tic disorder" EXACT [DOID:10600, ICD9CM_2006:307.22]
synonym: "tic disorder, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10600 {source="MONDO:equivalentTo"}
xref: ICD10:F95.1 {source="DOID:10600", source="MONDO:equivalentTo"}
xref: ICD9:307.22 {source="DOID:10600"}
xref: NCIT:C116768 {source="DOID:10600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0002420 {source="DOID:10600", source="MONDO:Entailed", source="MONDO:Redundant"} ! tic disorder
is_a: MONDO:0005395 {source="NCIT:C116768"} ! movement disorder
property_value: closeMatch http://identifiers.org/snomedct/192623005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008701
property_value: exactMatch DOID:10600
property_value: exactMatch NCIT:C116768

[Term]
id: MONDO:0001075
name: steatorrhea (disease)
def: "A finding of an excessive amount of fat in the stool." [NCIT:P378]
synonym: "fatty stool" EXACT [DOID:10602]
synonym: "fatty stool (finding)" EXACT [DOID:10602]
synonym: "steatorrhea" EXACT [MONDO:ambiguous]
xref: DOID:10602 {source="MONDO:equivalentTo"}
xref: HP:0002570 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D045602 {source="DOID:10602", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C86917 {source="DOID:10602", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy"}
xref: SCTID:27868004 {source="DOID:10602", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:10602", source="MESH:D045602/inferred"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/197489007
property_value: closeMatch http://identifiers.org/snomedct/266481005
property_value: closeMatch http://identifiers.org/snomedct/66187002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038238
property_value: exactMatch DOID:10602
property_value: exactMatch http://identifiers.org/mesh/D045602
property_value: exactMatch http://identifiers.org/snomedct/27868004
property_value: exactMatch NCIT:C86917

[Term]
id: MONDO:0001076
name: glucose intolerance
def: "The inability to regulate blood glucose levels resulting in hyperglycemia." [NCIT:P378]
synonym: "glucose: [intolerance] or [malabsorption]" EXACT [DOID:10603]
synonym: "glucose: intolerance" EXACT [DOID:10603]
synonym: "glucose: malabsorption" EXACT [DOID:10603]
synonym: "malabsorption of glucose" EXACT [DOID:10603]
xref: DOID:10603 {source="MONDO:equivalentTo"}
xref: ICD10:R73.09 {source="DOID:10603"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018149 {source="DOID:10603", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34646 {source="DOID:10603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:267426009 {source="DOID:10603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0271650 {source="DOID:10603", source="MONDO:equivalentTo", source="NCIT:C34646"}
is_a: MONDO:0002908 {source="DOID:10603/inferred", source="MESH:D018149/inferred", source="MONDO:Redundant", source="NCIT:C34646"} ! glucose metabolism disease
is_a: MONDO:0011731 {source="linkedlifedata"} ! glucose-galactose malabsorption
relationship: disease_has_feature MONDO:0002909 {source="DOID:10603-modified", source="MESH:D018149-modifier", source="NCIT:C34646-textdef"} ! hyperglycemia
property_value: closeMatch http://identifiers.org/snomedct/154720005
property_value: closeMatch http://identifiers.org/snomedct/190752008
property_value: closeMatch http://identifiers.org/snomedct/9414007
property_value: exactMatch DOID:10603
property_value: exactMatch http://identifiers.org/mesh/D018149
property_value: exactMatch http://identifiers.org/snomedct/267426009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271650
property_value: exactMatch NCIT:C34646

[Term]
id: MONDO:0001077
name: obsolete short bowel syndrome
is_obsolete: true
replaced_by: MONDO:0015183

[Term]
id: MONDO:0001078
name: tropical sprue
def: "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." [NCIT:P378]
subset: gard_rare {source="GARD:0007824"}
synonym: "idiopathic tropical malabsorption syndrome" RELATED [GARD:0007824]
synonym: "post-infective tropical malabsorption" EXACT [NCIT:C45428]
synonym: "sprue - tropical" EXACT [DOID:10607]
synonym: "tropical enteropathy" RELATED [GARD:0007824]
synonym: "tropical steatorrhea" EXACT [DOID:10607, MTHICD9_2006:579.1]
xref: COHD:193521 {source="MONDO:equivalentTo"}
xref: DOID:10607 {source="MONDO:equivalentTo"}
xref: GARD:0007824 {source="MONDO:equivalentTo"}
xref: ICD10:K90.1 {source="MONDO:equivalentTo", source="DOID:10607"}
xref: ICD9:579.1 {source="MONDO:equivalentTo", source="DOID:10607", source="i2s"}
xref: MESH:D013182 {source="MONDO:equivalentTo", source="DOID:10607", source="MONDO:ontobio"}
xref: NCIT:C45428 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10607"}
xref: SCTID:47384003 {source="MONDO:equivalentTo", source="DOID:10607", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038054 {source="MONDO:equivalentTo", source="DOID:10607", source="NCIT:C45428"}
is_a: MONDO:0020598 ! malabsorption syndrome
property_value: closeMatch http://identifiers.org/snomedct/155846005
property_value: closeMatch http://identifiers.org/snomedct/266547002
property_value: exactMatch DOID:10607
property_value: exactMatch http://identifiers.org/mesh/D013182
property_value: exactMatch http://identifiers.org/snomedct/47384003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038054
property_value: exactMatch NCIT:C45428
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue xsd:anyURI {source="GARD:0007824"}

[Term]
id: MONDO:0001079
name: pancreatic steatorrhea
comment: Editor note: consider obsoleting
synonym: "pancreatic steatorrhoea" EXACT [DOID:10610]
xref: COHD:200146 {source="MONDO:equivalentTo"}
xref: DOID:10610 {source="MONDO:equivalentTo"}
xref: ICD10:K90.3 {source="DOID:10610", source="MONDO:equivalentTo"}
xref: ICD9:579.4 {source="DOID:10610", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:54576000 {source="DOID:10610", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152166 {source="DOID:10610", source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="DOID:10610", source="linkedlifedata/inferred"} ! pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/155845009
property_value: closeMatch http://identifiers.org/snomedct/197487009
property_value: exactMatch DOID:10610
property_value: exactMatch http://identifiers.org/snomedct/54576000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152166

[Term]
id: MONDO:0001080
name: acute gonococcal cervicitis
def: "Acute form of gonococcal cervicitis." [MONDO:patterns/acute]
synonym: "acute gonorrhea of cervix" EXACT [DOID:10615, MTHICD9_2006:098.15]
synonym: "gonococcal cervicitis" EXACT EXCLUDE [DOID:10615]
synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM_2006:098.15]
synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: COHD:193136 {source="MONDO:equivalentTo"}
xref: DOID:10615 {source="MONDO:equivalentTo"}
xref: ICD9:098.15 {source="MONDO:equivalentTo", source="DOID:10615", source="i2s"}
xref: SCTID:20943002 {source="MONDO:equivalentTo", source="DOID:10615", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153195 {source="MONDO:equivalentTo", source="DOID:10615"}
is_a: MONDO:0001081 {source="DOID:10615", source="MONDO:Redundant", source="linkedlifedata"} ! acute cervicitis
is_a: MONDO:0021157 {source="MONDO:Redundant", source="MONDOLEX:0001080", source="linkedlifedata"} ! gonococcal cervicitis
property_value: exactMatch DOID:10615
property_value: exactMatch http://identifiers.org/snomedct/20943002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153195

[Term]
id: MONDO:0001081
name: acute cervicitis
def: "Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation." [NCIT:P378]
synonym: "acute cervicitis (disease)" EXACT []
synonym: "cervicitis (disease), acute" EXACT [MONDO:patterns/acute]
xref: DOID:10616 {source="MONDO:equivalentTo"}
xref: NCIT:C27056 {source="DOID:10616", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:19272000 {source="DOID:10616", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0269061 {source="NCIT:C27056", source="DOID:10616", source="MONDO:equivalentTo"}
is_a: MONDO:0002345 {source="DOID:10616", source="MONDO:Redundant", source="NCIT:C27056", source="linkedlifedata"} ! cervicitis (disease)
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:10616
property_value: exactMatch http://identifiers.org/snomedct/19272000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269061
property_value: exactMatch NCIT:C27056

[Term]
id: MONDO:0001082
name: lymph node cancer
def: "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" [NCIT:C35812]
synonym: "cancer of lymph node" EXACT [MONDO:patterns/cancer]
synonym: "lymph node cancer" EXACT [MONDO:patterns/location, NCIT:C35812]
synonym: "lymph node neoplasm" EXACT [DOID:10619, NCIT:C35497]
synonym: "malignant lymph node neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35812]
synonym: "malignant neoplasm of lymph node" EXACT [MONDO:patterns/cancer]
xref: DOID:10619 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35812 {source="MONDO:equivalentTo"}
xref: SCTID:127232002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69", source="DOID:10619"}
is_a: MONDO:0000612 {source="DOID:10619", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer
is_a: MONDO:0024339 {source="MONDO:Redundant", source="NCIT:C35812"} ! lymph node neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0596869
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0948627
property_value: exactMatch DOID:10619
property_value: exactMatch http://identifiers.org/snomedct/127232002
property_value: exactMatch NCIT:C35812

[Term]
id: MONDO:0001083
name: Fanconi renotubular syndrome
def: "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." [NCIT:C3034]
subset: gard_rare {source="GARD:0009120"}
synonym: "adult Fanconi syndrome" NARROW [DOID:1062]
synonym: "congenital Fanconi syndrome" NARROW [DOID:1062]
synonym: "De toni-debre-Fanconi syndrome" EXACT [NCIT:C3034]
synonym: "De toni-Fanconi syndrome" EXACT [DOID:1062]
synonym: "deToni Fanconi syndrome" EXACT [CSP2005:1849-2203, DOID:1062]
synonym: "Fanconi syndrome" EXACT [NCIT:C3034]
synonym: "Fanconi's syndrome" EXACT [NCIT:C3034]
synonym: "Fanconi-de toni syndrome" EXACT [DOID:1062, MTHICD9_2006:270.0]
synonym: "Fanconi-de-toni syndrome" EXACT [DOID:1062]
synonym: "infantile nephropathic cystinosis" RELATED [DOID:1062]
synonym: "Lignac-Fanconi syndrome" EXACT [DOID:1062, NCIT:C3034]
synonym: "toni-debre-Fanconi syndrome" RELATED [GARD:0009120]
xref: DC:0000148 {source="MONDO:equivalentTo"}
xref: DOID:1062 {source="MONDO:equivalentTo"}
xref: GARD:0009120 {source="MONDO:equivalentTo"}
xref: MESH:D005198 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: NCIT:C3034 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: OMIMPS:134600 {source="MONDO:equivalentTo", source="DC:0000148"}
xref: SCTID:40488004 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: UMLS:C0015624 {source="MONDO:equivalentTo", source="NCIT:C3034", source="DOID:1062"}
is_a: MONDO:0002254 {source="MONDOLEX:0001083", source="NCIT:C3034"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:1062", source="MESH:D005198"} ! renal tubular transport disease
is_a: MONDO:0021568 ! renal tubule disease
relationship: excluded_subClassOf MONDO:0003847 {source="NCIT:C3034"} ! Mendelian disease
property_value: closeMatch http://identifiers.org/snomedct/236468006
property_value: closeMatch http://identifiers.org/snomedct/44673006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0341703
property_value: exactMatch DOID:1062
property_value: exactMatch http://identifiers.org/mesh/D005198
property_value: exactMatch http://identifiers.org/snomedct/40488004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015624
property_value: exactMatch NCIT:C3034
property_value: excluded_synonym "adult Fanconi Anemia" xsd:string {source="DOID:1062"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome xsd:anyURI {source="GARD:0009120"}

[Term]
id: MONDO:0001084
name: primary optic atrophy
xref: COHD:380729 {source="MONDO:equivalentTo"}
xref: DOID:10627 {source="MONDO:equivalentTo"}
xref: ICD10:H47.21 {source="DOID:10627"}
xref: ICD9:377.11 {source="DOID:10627", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:21098003 {source="DOID:10627", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155291 {source="DOID:10627", source="MONDO:equivalentTo"}
is_a: MONDO:0003608 {source="DOID:10627", source="linkedlifedata"} ! optic atrophy
property_value: exactMatch DOID:10627
property_value: exactMatch http://identifiers.org/snomedct/21098003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155291

[Term]
id: MONDO:0001085
name: interstitial nephritis
def: "Inflammation of the renal tubules and supporting tissues of the kidney." [NCIT:P378]
synonym: "renal tubulo-interstitial disease" EXACT [DOID:1063]
synonym: "Tubulointerstitial nephritis" EXACT [NCIT:C26834]
xref: DOID:1063 {source="MONDO:equivalentTo"}
xref: ICD10:N12 {source="DOID:1063"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009395 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1063"}
xref: NCIT:C26834 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1063"}
xref: SCTID:28689008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95", source="DOID:1063"}
xref: UMLS:C0027707 {source="MONDO:equivalentTo", source="NCIT:C26834", source="DOID:1063"}
xref: UMLS:C0041349 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001166 {source="DOID:1063", source="MESH:D009395", source="NCIT:C26834", source="linkedlifedata"} ! nephritis
property_value: closeMatch http://identifiers.org/snomedct/264536006
property_value: exactMatch DOID:1063
property_value: exactMatch http://identifiers.org/mesh/D009395
property_value: exactMatch http://identifiers.org/snomedct/28689008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041349
property_value: exactMatch NCIT:C26834

[Term]
id: MONDO:0001086
name: partial optic atrophy
xref: COHD:381861 {source="MONDO:equivalentTo"}
xref: DOID:10631 {source="MONDO:equivalentTo"}
xref: ICD9:377.15 {source="DOID:10631", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:111527005 {source="DOID:10631", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155295 {source="DOID:10631", source="MONDO:equivalentTo"}
is_a: MONDO:0003608 {source="DOID:10631", source="linkedlifedata"} ! optic atrophy
property_value: closeMatch http://identifiers.org/snomedct/194044005
property_value: exactMatch DOID:10631
property_value: exactMatch http://identifiers.org/snomedct/111527005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155295

[Term]
id: MONDO:0001087
name: schizotypal personality disorder
def: "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." [NCIT:P378]
xref: COHD:434010 {source="MONDO:equivalentTo"}
xref: DOID:10646 {source="MONDO:equivalentTo"}
xref: ICD10:F21 {source="DOID:10646"}
xref: ICD9:301.22 {source="DOID:10646", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012569 {source="DOID:10646", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92632 {source="DOID:10646", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:31027006 {source="DOID:10646", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/231486008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036363
property_value: exactMatch DOID:10646
property_value: exactMatch http://identifiers.org/mesh/D012569
property_value: exactMatch http://identifiers.org/snomedct/31027006
property_value: exactMatch NCIT:C92632

[Term]
id: MONDO:0001088
name: acute inferoposterior infarction
comment: Editor note: TODO: positional superclass
synonym: "acute inferoposterior infarction" EXACT []
synonym: "acute inferoposterior myocardial infarction" EXACT []
synonym: "acute myocardial infarction of inferoposterior wall" EXACT []
xref: DOID:10648 {source="MONDO:equivalentTo"}
xref: ICD9:410.30 {source="MONDO:equivalentTo", source="DOID:10648", source="i2s"}
xref: ICD9:410.31 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.32 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:76593002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0340304 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004781 {source="DOID:10648", source="MONDOLEX:0001088", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute myocardial infarction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155640
property_value: exactMatch DOID:10648
property_value: exactMatch http://identifiers.org/snomedct/76593002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340304

[Term]
id: MONDO:0001089
name: acute inferolateral myocardial infarction
comment: Editor note: TODO: positional superclass
synonym: "acute inferolateral myocardial infarction" EXACT []
synonym: "acute myocardial infarction of inferolateral wall" EXACT []
xref: DOID:10649 {source="MONDO:equivalentTo"}
xref: ICD9:410.20 {source="DOID:10649", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:410.21 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.22 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:65547006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0340308 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004781 {source="DOID:10649", source="MONDOLEX:0001089", source="linkedlifedata"} ! acute myocardial infarction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155636
property_value: exactMatch DOID:10649
property_value: exactMatch http://identifiers.org/snomedct/65547006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340308

[Term]
id: MONDO:0001090
name: acute anterolateral myocardial infarction
def: "Acute form of anterolateral myocardial infarction." [MONDO:patterns/acute]
comment: Editor note: TODO: positional superclass
synonym: "acute anterolateral myocardial infarction" EXACT []
synonym: "acute myocardial infarction of anterolateral wall" EXACT []
synonym: "anterolateral myocardial infarction, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10651 {source="MONDO:equivalentTo"}
xref: ICD9:410.0 {source="DOID:10651"}
xref: ICD9:410.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:410.01 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.02 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:70211005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="DOID:10651"}
xref: UMLS:C0155627 {source="MONDO:equivalentTo", source="DOID:10651"}
is_a: MONDO:0004781 {source="DOID:10651", source="MONDO:Redundant", source="MONDOLEX:0001090", source="linkedlifedata"} ! acute myocardial infarction
is_a: MONDO:0006652 ! anterolateral myocardial infarction
property_value: exactMatch DOID:10651
property_value: exactMatch http://identifiers.org/snomedct/70211005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155627

[Term]
id: MONDO:0001091
name: lipoma of colon
def: "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction." [NCIT:C5493]
synonym: "colon lipoma" EXACT [MONDO:patterns/location, NCIT:C5493]
synonym: "colonic lipoma" EXACT [DOID:10655, NCIT:C5493]
synonym: "lipoma of colon" EXACT [NCIT:C5493]
synonym: "lipoma of the colon" EXACT [NCIT:C5493]
xref: DOID:10655 {source="MONDO:equivalentTo"}
xref: NCIT:C5493 {source="DOID:10655", source="MONDO:equivalentTo"}
xref: UMLS:C0940607 {source="NCIT:C5493", source="DOID:10655", source="MONDO:equivalentTo"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5493"} ! benign colon neoplasm
is_a: MONDO:0003885 {source="DOID:10655", source="MONDO:Redundant", source="NCIT:C5493"} ! colorectal lipoma
property_value: exactMatch DOID:10655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0940607
property_value: exactMatch NCIT:C5493

[Term]
id: MONDO:0001092
name: colon leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5492]
synonym: "colon leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5492]
synonym: "colonic leiomyoma" EXACT [DOID:10656, NCIT:C5492]
synonym: "leiomyoma of colon" EXACT [NCIT:C5492]
synonym: "leiomyoma of the colon" EXACT [NCIT:C5492]
xref: DOID:10656 {source="MONDO:equivalentTo"}
xref: NCIT:C5492 {source="DOID:10656", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333092 {source="NCIT:C5492", source="DOID:10656", source="MONDO:equivalentTo"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5492"} ! benign colon neoplasm
is_a: MONDO:0003299 {source="DOID:10656", source="MONDO:Redundant", source="NCIT:C5492"} ! colorectal leiomyoma
property_value: exactMatch DOID:10656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333092
property_value: exactMatch NCIT:C5492

[Term]
id: MONDO:0001093
name: colonic lymphangioma
def: "A lymphangioma arising from the colon." [NCIT:C5500]
synonym: "colon lymphangioma" EXACT [MONDO:patterns/location, NCIT:C5500]
synonym: "colonic lymphangioma" EXACT [DOID:10657, NCIT:C5500]
synonym: "lymphangioma of colon" EXACT [DOID:10657, NCIT:C5500]
synonym: "lymphangioma of the colon" EXACT [NCIT:C5500]
xref: DOID:10657 {source="MONDO:equivalentTo"}
xref: NCIT:C5500 {source="DOID:10657", source="MONDO:equivalentTo"}
xref: UMLS:C1333094 {source="DOID:10657", source="MONDO:equivalentTo", source="NCIT:C5500"}
is_a: MONDO:0002013 {source="DOID:10657", source="MONDO:Redundant", source="NCIT:C5500/inferred"} ! lymphangioma
is_a: MONDO:0002278 {source="DOID:10657", source="MONDO:Redundant", source="NCIT:C5500"} ! benign colon neoplasm
is_a: MONDO:0024479 ! epithelial tumor of colon
property_value: exactMatch DOID:10657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333094
property_value: exactMatch NCIT:C5500

[Term]
id: MONDO:0001094
name: residual stage of open angle glaucoma
synonym: "open-angle glaucoma residual stage" EXACT [DOID:1066]
synonym: "residual stage of open angle glaucoma" EXACT [DOID:1066]
xref: COHD:437542 {source="MONDO:equivalentTo"}
xref: DOID:1066 {source="MONDO:equivalentTo"}
xref: ICD10:H40.15 {source="DOID:1066"}
xref: ICD9:365.15 {source="DOID:1066", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:66990007 {source="DOID:1066", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154944 {source="DOID:1066", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="DOID:1066", source="MONDOLEX:0001094", source="linkedlifedata"} ! open-angle glaucoma
property_value: closeMatch http://identifiers.org/snomedct/193542007
property_value: exactMatch DOID:1066
property_value: exactMatch http://identifiers.org/snomedct/66990007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154944

[Term]
id: MONDO:0001095
name: mediastinum neuroblastoma
def: "A neuroblastoma arising from the mediastinum." [NCIT:C6628]
synonym: "mediastinal neuroblastoma" RELATED [NCIT:C6628]
synonym: "mediastinum neuroblastoma" EXACT [MONDO:patterns/location]
synonym: "neuroblastoma of mediastinum" EXACT [DOID:10660, NCIT:C6628]
synonym: "neuroblastoma of the mediastinum" RELATED [NCIT:C6628]
xref: DOID:10660 {source="MONDO:equivalentTo"}
xref: EFO:1000367 {source="MONDO:equivalentTo"}
xref: NCIT:C6628 {source="MONDO:equivalentTo", source="EFO:1000367", source="DOID:10660", source="NCIT:C6628"}
xref: UMLS:C1334673 {source="MONDO:equivalentTo", source="DOID:10660", source="NCIT:C6628"}
is_a: MONDO:0003098 {source="DOID:10660", source="NCIT:C6628"} ! mediastinal neural neoplasm
is_a: MONDO:0005072 {source="DOID:10660", source="EFO:1000367", source="MONDO:Redundant", source="NCIT:C6628/inferred"} ! neuroblastoma
is_a: MONDO:0005843 {source="DOID:10660/inferred", source="NCIT:C6628"} ! mediastinal cancer
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:10660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334673
property_value: exactMatch NCIT:C6628

[Term]
id: MONDO:0001096
name: mediastinum ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the mediastinum." [NCIT:C6627]
synonym: "ganglioneuroblastoma (disease) of mediastinum" EXACT []
synonym: "ganglioneuroblastoma of mediastinum" EXACT [DOID:10661, NCIT:C6627]
synonym: "ganglioneuroblastoma of the mediastinum" EXACT [NCIT:C6627]
synonym: "mediastinal ganglioneuroblastoma" EXACT [NCIT:C6627]
synonym: "mediastinum ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:10661 {source="MONDO:equivalentTo"}
xref: NCIT:C6627 {source="MONDO:equivalentTo", source="DOID:10661"}
xref: UMLS:C1334653 {source="MONDO:equivalentTo", source="DOID:10661", source="NCIT:C6627"}
is_a: MONDO:0001095 {source="DOID:10661", source="MONDOLEX:0001096"} ! mediastinum neuroblastoma
is_a: MONDO:0003327 {source="MONDO:Redundant", source="NCIT:C6627"} ! peripheral ganglioneuroblastoma
relationship: excluded_subClassOf MONDO:0005843 {source="NCIT:C6627"} ! mediastinal cancer
property_value: exactMatch DOID:10661
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334653
property_value: exactMatch NCIT:C6627

[Term]
id: MONDO:0001097
name: obsolete juvenile glaucoma
is_obsolete: true
replaced_by: MONDO:0020367

[Term]
id: MONDO:0001098
name: separation anxiety disorder
def: "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." [NCIT:C35014]
xref: DOID:10685 {source="MONDO:equivalentTo"}
xref: EFO:1001916 {source="MONDO:equivalentTo"}
xref: MESH:D001010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35014 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:11806006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.37/0.09"}
is_a: MONDO:0005618 {source="DOID:10685", source="EFO:1001916", source="MESH:D001010", source="linkedlifedata", source="linkedlifedata/inferred"} ! anxiety disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527281
property_value: exactMatch DOID:10685
property_value: exactMatch http://identifiers.org/mesh/D001010
property_value: exactMatch http://identifiers.org/snomedct/11806006
property_value: exactMatch NCIT:C35014

[Term]
id: MONDO:0001099
name: lactocele
def: "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." [NCIT:C3515]
synonym: "galactocele" EXACT [DOID:10686, NCIT:C3515]
synonym: "Galactocoele" RELATED [GARD:0008401]
synonym: "lacteal cyst" RELATED [GARD:0008401]
xref: COHD:436167 {source="MONDO:equivalentTo"}
xref: DOID:10686 {source="MONDO:equivalentTo"}
xref: GARD:0008401 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:N64.89 {source="DOID:10686"}
xref: ICD9:611.5 {source="DOID:10686", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C535998 {source="DOID:10686", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3515 {source="DOID:10686", source="MONDO:equivalentTo"}
xref: SCTID:42385006 {source="DOID:10686", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0001011 {source="DOID:10686", source="MESH:C535998", source="linkedlifedata"} ! breast cyst
is_a: MONDO:0045019 ! lactation disease
property_value: closeMatch http://identifiers.org/snomedct/155966000
property_value: closeMatch http://identifiers.org/snomedct/266647006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152243
property_value: exactMatch DOID:10686
property_value: exactMatch http://identifiers.org/mesh/C535998
property_value: exactMatch http://identifiers.org/snomedct/42385006
property_value: exactMatch NCIT:C3515

[Term]
id: MONDO:0001100
name: hypertrophy of breast
def: "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." [NCIT:P378]
synonym: "breast Hypertrophy" EXACT [NCIT:C3125]
synonym: "breasts enlarged" EXACT [DOID:10688]
synonym: "drug-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "gestational gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "gigantomastia" EXACT [NCIT:C3125]
synonym: "hypertrophy of the breast" EXACT [NCIT:C3125]
synonym: "idiopathic gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "juvenile gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "large breast" EXACT [DOID:10688]
synonym: "macromastia" EXACT [NCIT:C3125]
synonym: "medication-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "pregnancy-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "puberty-induced gigantomastia (subtype)" RELATED [GARD:0009450]
xref: COHD:78474 {source="MONDO:equivalentTo"}
xref: DOID:10688 {source="MONDO:equivalentTo"}
xref: GARD:0009450 {source="MONDO:equivalentTo"}
xref: ICD10:N62 {source="DOID:10688", source="MONDO:equivalentTo"}
xref: ICD9:611.1 {source="DOID:10688", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3125 {source="DOID:10688", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:372281005 {source="DOID:10688", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002657 {source="DOID:10688", source="NCIT:C3125/inferred", source="linkedlifedata"} ! breast disease
property_value: closeMatch http://identifiers.org/snomedct/155963008
property_value: closeMatch http://identifiers.org/snomedct/198114003
property_value: closeMatch http://identifiers.org/snomedct/266646002
property_value: closeMatch http://identifiers.org/snomedct/43336006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020565
property_value: exactMatch DOID:10688
property_value: exactMatch http://identifiers.org/snomedct/372281005
property_value: exactMatch NCIT:C3125

[Term]
id: MONDO:0001101
name: fat necrosis of breast
def: "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." [NCIT:P378]
synonym: "breast fat necrosis" EXACT [DOID:10691, NCIT:C3661]
synonym: "fat Necrosis of the breast" EXACT [NCIT:C3661]
xref: COHD:436470 {source="MONDO:equivalentTo"}
xref: DOID:10691 {source="MONDO:equivalentTo"}
xref: ICD10:N64.1 {source="MONDO:equivalentTo", source="DOID:10691"}
xref: ICD9:611.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10691"}
xref: NCIT:C3661 {source="MONDO:equivalentTo", source="DOID:10691", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:21381006 {source="MONDO:equivalentTo", source="DOID:10691", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156321 {source="MONDO:equivalentTo", source="NCIT:C3661", source="DOID:10691"}
is_a: MONDO:0002657 {source="DOID:10691", source="NCIT:C3661/inferred", source="linkedlifedata"} ! breast disease
property_value: exactMatch DOID:10691
property_value: exactMatch http://identifiers.org/snomedct/21381006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156321
property_value: exactMatch NCIT:C3661

[Term]
id: MONDO:0001102
name: obsolete chronic endophthalmitis
is_obsolete: true
replaced_by: MONDO:0017203

[Term]
id: MONDO:0001103
name: giardiasis
def: "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." [MESH:D005873]
synonym: "beaver feaver" EXACT [DOID:10718]
synonym: "Giardia" RELATED []
synonym: "Giardia infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Giardiases" RELATED [MESH:D005873]
synonym: "infection by Giardia lamblia" EXACT [DOID:10718, MTHICD9_2006:007.1]
synonym: "infections, Giardia" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Lambliases" RELATED [MESH:D005873]
synonym: "lambliasis" RELATED [MESH:D005873]
xref: COHD:437202 {source="MONDO:equivalentTo"}
xref: DOID:10718 {source="MONDO:equivalentTo"}
xref: ICD10:A07.1 {source="DOID:10718"}
xref: ICD9:007.1 {source="DOID:10718"}
xref: MESH:D005873 {source="MONDO:equivalentTo", source="DOID:10718", source="MONDO:ontobio"}
xref: SCTID:10679007 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo", source="DOID:10718"}
xref: UMLS:C0017536 {source="MONDO:equivalentTo", source="DOID:10718"}
is_a: MONDO:0002428 {source="DOID:10718", source="MESH:D005873"} ! protozoa infectious disease
is_a: MONDO:0024270 {source="MESH:D005873"} ! parasitic intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/154275004
property_value: closeMatch http://identifiers.org/snomedct/186124000
property_value: closeMatch http://identifiers.org/snomedct/266075009
property_value: closeMatch http://identifiers.org/snomedct/266176008
property_value: closeMatch http://identifiers.org/snomedct/58265007
property_value: exactMatch DOID:10718
property_value: exactMatch http://identifiers.org/mesh/D005873
property_value: exactMatch http://identifiers.org/snomedct/10679007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017536

[Term]
id: MONDO:0001104
name: toxic diffuse goiter
xref: COHD:138717 {source="MONDO:equivalentTo"}
xref: DOID:10719 {source="MONDO:equivalentTo"}
xref: ICD9:242.00 {source="DOID:10719"}
xref: SCTID:267374005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004425 {source="DOID:10719", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperthyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154138
property_value: exactMatch DOID:10719
property_value: exactMatch http://identifiers.org/snomedct/267374005

[Term]
id: MONDO:0001105
name: renal hypertension
def: "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." [https://en.wikipedia.org/wiki/Renovascular_hypertension]
synonym: "renovascular hypertension" EXACT [https://en.wikipedia.org/wiki/Renovascular_hypertension]
xref: DOID:1073 {source="MONDO:equivalentTo"}
xref: EFO:1002039 {source="MONDO:equivalentTo"}
xref: MESH:D006977 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1073"}
xref: SCTID:28119000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1073"}
xref: UMLS:C0020544 {source="MONDO:equivalentTo", source="DOID:1073"}
is_a: MONDO:0001200 {source="DOID:1073", source="EFO:1002039", source="MONDO:Redundant", source="PMID:25492839", source="https://en.wikipedia.org/wiki/Renovascular_hypertension", source="linkedlifedata"} ! secondary hypertension
is_a: MONDO:0005240 {source="DOID:1073", source="EFO:1002039", source="MESH:D006977"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/194775007
property_value: exactMatch DOID:1073
property_value: exactMatch http://identifiers.org/mesh/D006977
property_value: exactMatch http://identifiers.org/snomedct/28119000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020544
property_value: exactMatch NCIT:C3121

[Term]
id: MONDO:0001106
name: kidney failure
def: "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." [NCIT:P378]
synonym: "failure, renal" EXACT [NCIT:C4376]
synonym: "renal failure" EXACT [DOID:1074]
synonym: "renal failure syndrome" EXACT [NCIT:C4376]
synonym: "renal insufficiency" EXACT [NCIT:C4376]
xref: DOID:1074 {source="MONDO:equivalentTo"}
xref: ICD10:N19 {source="DOID:1074"}
xref: ICD9:404.12 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:404.13 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:586 {source="MONDO:equivalentTo", source="i2s", source="DOID:1074"}
xref: MESH:D051437 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1074"}
xref: NCIT:C4376 {source="MONDO:equivalentTo", source="DOID:1074", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:42399005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.89", source="DOID:1074"}
xref: UMLS:C0035078 {source="MONDO:equivalentTo", source="NCIT:C4376", source="DOID:1074"}
xref: UMLS:C1565489 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0005240 {source="DOID:1074", source="MESH:D051437", source="NCIT:C4376/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/156092003
property_value: closeMatch http://identifiers.org/snomedct/197656003
property_value: closeMatch http://identifiers.org/snomedct/198524000
property_value: closeMatch http://identifiers.org/snomedct/266553002
property_value: closeMatch http://identifiers.org/snomedct/266616000
property_value: exactMatch DOID:1074
property_value: exactMatch http://identifiers.org/mesh/D051437
property_value: exactMatch http://identifiers.org/snomedct/42399005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1565489
property_value: exactMatch NCIT:C4376

[Term]
id: MONDO:0001107
name: obsolete cerebral lipidosis
is_obsolete: true
replaced_by: MONDO:0020143

[Term]
id: MONDO:0001108
name: broad ligament malignant neoplasm
def: "A malignant neoplasm involving the broad ligament of uterus." [MONDO:DesignPattern]
synonym: "broad ligament of uterus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of broad ligament of uterus" EXACT [MONDO:patterns/cancer]
synonym: "malignant broad ligament of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of broad ligament of uterus" EXACT [DOID:10744, ICD9CM_2006:183.3, MONDO:patterns/cancer]
xref: COHD:40486213 {source="MONDO:equivalentTo"}
xref: DOID:10744 {source="MONDO:equivalentTo"}
xref: ICD10:C57.1 {source="DOID:10744"}
xref: ICD9:183.3 {source="DOID:10744", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:449259009 {source="DOID:10744", source="MONDO:kboom-pr-1.00/0.91/29.16", source="MONDO:equivalentTo"}
xref: UMLS:C0346866 {source="DOID:10744", source="MONDO:equivalentTo"}
is_a: MONDO:0000637 ! musculoskeletal system cancer
is_a: MONDO:0001351 {source="DOID:10744"} ! uterine adnexa cancer
is_a: MONDO:0045043 ! disease of uterine broad ligament
property_value: closeMatch http://identifiers.org/snomedct/188202001
property_value: closeMatch http://identifiers.org/snomedct/93728003
property_value: exactMatch DOID:10744
property_value: exactMatch http://identifiers.org/snomedct/449259009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346866

[Term]
id: MONDO:0001109
name: petrositis
def: "Inflammation of petrous bone." [MESH:D059270]
synonym: "acute petrositis" EXACT [DOID:10755]
synonym: "chronic petrositis" EXACT [DOID:10755]
synonym: "inflammation of petrous bone" RELATED [DOID:10755]
synonym: "inflammation of petrous part of temporal bone" EXACT []
synonym: "petrous part of temporal bone inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:81029 {source="MONDO:equivalentTo"}
xref: DOID:10755 {source="MONDO:equivalentTo"}
xref: ICD10:H70.2 {source="DOID:10755", source="MONDO:equivalentTo"}
xref: ICD10:H70.20 {source="DOID:10755"}
xref: ICD10:H70.209 {source="DOID:10755"}
xref: ICD10:H70.21 {source="DOID:10755"}
xref: ICD10:H70.219 {source="DOID:10755"}
xref: ICD10:H70.22 {source="DOID:10755"}
xref: ICD10:H70.229 {source="DOID:10755"}
xref: ICD9:383.2 {source="DOID:10755"}
xref: ICD9:383.20 {source="DOID:10755"}
xref: ICD9:383.21 {source="DOID:10755"}
xref: ICD9:383.22 {source="DOID:10755", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D059270 {source="DOID:10755", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:28593007 {source="DOID:10755", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.05"}
xref: UMLS:C0155448 {source="DOID:10755", source="MONDO:equivalentTo"}
is_a: MONDO:0005246 {source="DOID:10755", source="MESH:D059270"} ! osteomyelitis (disease)
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0024654 ! skull disorder
property_value: closeMatch http://identifiers.org/snomedct/155233009
property_value: closeMatch http://identifiers.org/snomedct/194300003
property_value: closeMatch http://identifiers.org/snomedct/194301004
property_value: closeMatch http://identifiers.org/snomedct/267760001
property_value: closeMatch http://identifiers.org/snomedct/34997001
property_value: closeMatch http://identifiers.org/snomedct/51211002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155449
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155450
property_value: exactMatch DOID:10755
property_value: exactMatch http://identifiers.org/mesh/D059270
property_value: exactMatch http://identifiers.org/snomedct/28593007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155448

[Term]
id: MONDO:0001110
name: chronic pyelonephritis
def: "Persistent pyelonephritis." [NCIT:P378]
synonym: "pyelonephritis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:4269363 {source="MONDO:equivalentTo"}
xref: DOID:1076 {source="MONDO:equivalentTo"}
xref: ICD10:N11 {source="DOID:1076"}
xref: ICD10:N11.9 {source="DOID:1076"}
xref: ICD9:590.0 {source="DOID:1076"}
xref: NCIT:C123216 {source="DOID:1076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:63302006 {source="DOID:1076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0085697 {source="DOID:1076", source="MONDO:equivalentTo", source="NCIT:C123216"}
is_a: MONDO:0005300 ! chronic kidney disease
is_a: MONDO:0006939 {source="DOID:1076", source="MONDO:Redundant", source="NCIT:C123216", source="linkedlifedata"} ! pyelonephritis
property_value: closeMatch http://identifiers.org/snomedct/123293005
property_value: closeMatch http://identifiers.org/snomedct/155861006
property_value: closeMatch http://identifiers.org/snomedct/197767009
property_value: closeMatch http://identifiers.org/snomedct/266619007
property_value: exactMatch DOID:1076
property_value: exactMatch http://identifiers.org/snomedct/63302006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085697
property_value: exactMatch NCIT:C123216

[Term]
id: MONDO:0001111
name: obsolete thrombotic thrombocytopenic purpura
is_obsolete: true
replaced_by: MONDO:0018896

[Term]
id: MONDO:0001112
name: bubonic plague
def: "A plague in which the bacteria have infected the lymphatic system." [https://www.healthline.com/health/plague#types]
subset: gard_rare {source="GARD:0000183"}
synonym: "black death" EXACT [CSP2005:0368-3331, DOID:10773]
xref: DOID:10773 {source="MONDO:equivalentTo"}
xref: GARD:0000183 {source="MONDO:equivalentTo"}
xref: ICD10:A20.0 {source="MONDO:equivalentTo", source="DOID:10773"}
xref: ICD9:020.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10773"}
xref: SCTID:50797007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.53", source="DOID:10773"}
xref: UMLS:C0282312 {source="MONDO:equivalentTo", source="DOID:10773"}
is_a: MONDO:0005833 ! lymphatic system disease
is_a: MONDO:0019095 {source="DOID:10773", source="ICD10:A20.0", source="MONDO:Redundant", source="MONDOLEX:0001112", source="linkedlifedata"} ! plague
property_value: exactMatch DOID:10773
property_value: exactMatch http://identifiers.org/snomedct/50797007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282312
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/183/bubonic-plague xsd:anyURI {source="GARD:0000183"}

[Term]
id: MONDO:0001113
name: Fiedler's myocarditis
synonym: "fiedler myocarditis" EXACT [DOID:10778]
synonym: "idiopathic myocarditis" EXACT [DOID:10778, ICD9CM_2006:422.91]
synonym: "isolated (Fiedler's) myocarditis" EXACT [DOID:10778]
xref: COHD:317307 {source="MONDO:equivalentTo"}
xref: DOID:10778 {source="MONDO:equivalentTo"}
xref: ICD10:I40.1 {source="DOID:10778", source="MONDO:equivalentTo"}
xref: ICD9:422.91 {source="DOID:10778"}
xref: SCTID:266238009 {source="DOID:10778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.21"}
xref: UMLS:C0155689 {source="DOID:10778", source="MONDO:equivalentTo"}
is_a: MONDO:0004496 {source="DOID:10778/inferred", source="ICD10:I40.1", source="MONDOLEX:0001113", source="linkedlifedata"} ! myocarditis
relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10778"} ! acute myocarditis
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://identifiers.org/snomedct/194954007
property_value: closeMatch http://identifiers.org/snomedct/194955008
property_value: closeMatch http://identifiers.org/snomedct/91025000
property_value: exactMatch DOID:10778
property_value: exactMatch http://identifiers.org/snomedct/266238009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155689

[Term]
id: MONDO:0001114
name: bacterial myocarditis
def: "Myocarditis that is caused by an infection with a bacterial agent." [NCIT:C128380]
synonym: "septic myocarditis" EXACT [DOID:10779]
xref: DOID:10779 {source="MONDO:equivalentTo"}
xref: ICD10:I40.0 {source="DOID:10779", source="MONDO:equivalentTo"}
xref: ICD9:422.92 {source="DOID:10779", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C128380 {source="MONDO:equivalentTo"}
xref: SCTID:64043005 {source="DOID:10779", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.40"}
xref: UMLS:C0155690 {source="DOID:10779", source="MONDO:equivalentTo"}
xref: UMLS:C1384588 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004496 {source="DOID:10779/inferred", source="ICD10:I40.0", source="MONDOLEX:0001114", source="NCIT:C128380", source="linkedlifedata/inferred"} ! myocarditis
relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10779"} ! acute myocarditis
property_value: closeMatch http://identifiers.org/snomedct/194959002
property_value: exactMatch DOID:10779
property_value: exactMatch http://identifiers.org/snomedct/64043005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384588
property_value: exactMatch NCIT:C128380

[Term]
id: MONDO:0001115
name: familial polycythemia
def: "Polycythemia that occurs in groups of related individuals." [NCIT:C26955]
synonym: "erythrocytosis, familial" EXACT [OMIMPS:133100]
synonym: "familial erythrocytosis" EXACT EXCLUDE [DOID:10780]
synonym: "familial polycythemia" EXACT [NCIT:C26955]
synonym: "familiar polycythemia" RELATED EXCLUDE [DOID:10780]
synonym: "hereditary polycythemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "primary polycythemia" NARROW [DOID:10780]
xref: DOID:10780 {source="MONDO:equivalentTo"}
xref: ICD10:D75.0 {source="DOID:10780"}
xref: ICD9:289.6 {source="MONDO:superClassOf", source="DOID:10780"}
xref: NCIT:C26955 {source="MONDO:equivalentTo", source="DOID:10780"}
xref: OMIMPS:133100 {source="MONDO:equivalentTo", source="DOID:10780"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005571 {source="DOID:10780", source="MONDO:Redundant", source="NCIT:C26955/inferred"} ! polycythemia (disease)
intersection_of: MONDO:0005571 ! polycythemia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/mesh/C536842
property_value: closeMatch http://identifiers.org/snomedct/154840005
property_value: closeMatch http://identifiers.org/snomedct/267571003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152264
property_value: exactMatch DOID:10780
property_value: exactMatch NCIT:C26955

[Term]
id: MONDO:0001116
name: mesenteric lymphadenitis
def: "Inflammation of the mesenteric lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of mesentery" EXACT []
synonym: "mesenteric adenitis" EXACT [DOID:10782]
synonym: "mesenteric lymphadenitis" EXACT [DOID:10782, MTHICD9_2006:289.2]
synonym: "mesentery lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:10782 {source="MONDO:equivalentTo"}
xref: ICD10:I88.0 {source="DOID:10782"}
xref: ICD9:289.2 {source="DOID:10782"}
xref: MESH:D008640 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10782"}
xref: NCIT:C26830 {source="MONDO:equivalentTo", source="DOID:10782"}
xref: SCTID:44897000 {source="MONDO:equivalentTo", source="DOID:10782", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025469 {source="MONDO:equivalentTo", source="NCIT:C26830", source="DOID:10782"}
is_a: MONDO:0002052 {source="DOID:10782", source="MESH:D008640", source="MONDO:Redundant", source="NCIT:C26830"} ! lymphadenitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/154837005
property_value: closeMatch http://identifiers.org/snomedct/191376006
property_value: closeMatch http://identifiers.org/snomedct/191378007
property_value: closeMatch http://identifiers.org/snomedct/267548000
property_value: exactMatch DOID:10782
property_value: exactMatch http://identifiers.org/mesh/D008640
property_value: exactMatch http://identifiers.org/snomedct/44897000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025469
property_value: exactMatch NCIT:C26830

[Term]
id: MONDO:0001117
name: methemoglobinemia
def: "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood." [NCIT:C34817]
synonym: "methemoglobinemias" EXACT [MESH:D008708]
xref: COHD:432882 {source="MONDO:equivalentTo"}
xref: DOID:10783 {source="MONDO:equivalentTo"}
xref: ICD10:D74 {source="DOID:10783"}
xref: ICD10:D74.9 {source="DOID:10783"}
xref: ICD9:289.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:10783"}
xref: MESH:D008708 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10783"}
xref: NCIT:C34817 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:10783"}
xref: SCTID:38959009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10783"}
xref: UMLS:C0025637 {source="NCIT:C34817", source="MONDO:equivalentTo", source="DOID:10783"}
is_a: MONDO:0044348 {source="linkedlifedata"} ! hemoglobinopathy
property_value: closeMatch http://identifiers.org/snomedct/124965005
property_value: closeMatch http://identifiers.org/snomedct/131171006
property_value: closeMatch http://identifiers.org/snomedct/191386007
property_value: closeMatch http://identifiers.org/snomedct/191393006
property_value: closeMatch http://identifiers.org/snomedct/267549008
property_value: exactMatch DOID:10783
property_value: exactMatch http://identifiers.org/mesh/D008708
property_value: exactMatch http://identifiers.org/snomedct/38959009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025637
property_value: exactMatch NCIT:C34817

[Term]
id: MONDO:0001118
name: Queensland tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy." [DOID:10784, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, http://www.cdc.gov/otherspottedfever/index.html]
synonym: "Australian tick typhus" RELATED [DOID:10784]
synonym: "North Queensland tick typhus" RELATED [DOID:10784]
synonym: "Rickettsia australis spotted fever" EXACT [DOID:10784]
xref: DOID:10784 {source="MONDO:equivalentTo"}
xref: ICD9:082.3 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:68981009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2979888 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:10784", source="MONDOLEX:0001118"} ! spotted fever
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: exactMatch DOID:10784
property_value: exactMatch http://identifiers.org/snomedct/68981009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2979888

[Term]
id: MONDO:0001119
name: premature menopause
def: "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." [NCIT:C80099]
synonym: "early menopause" EXACT [NCIT:C80099]
synonym: "menopause - premature" EXACT [DOID:10787]
synonym: "menopause praecox" EXACT [DOID:10787]
synonym: "POF" EXACT [NCIT:C80099]
synonym: "premature menopause" EXACT [NCIT:C80099]
synonym: "premature ovarian failure" EXACT [NCIT:C80099]
xref: COHD:198715 {source="MONDO:equivalentTo"}
xref: DOID:10787 {source="MONDO:equivalentTo"}
xref: ICD10:E28.31 {source="DOID:10787"}
xref: ICD10:E28.319 {source="DOID:10787"}
xref: ICD9:256.31 {source="DOID:10787"}
xref: ICD9:256.39 {source="linkedlifedata"}
xref: MESH:D008594 {source="DOID:10787", source="MONDO:equivalentTo"}
xref: NCIT:C80099 {source="MONDO:kboom-pr-0.93/0.87/0.08", source="DOID:10787", source="MONDO:equivalentTo"}
xref: SCTID:237788002 {source="MONDO:equivalentTo"}
xref: UMLS:C0025322 {source="DOID:10787", source="MONDO:equivalentTo", source="NCIT:C80099"}
is_a: MONDO:0001889 {source="DOID:10787", source="NCIT:C80099", source="linkedlifedata/inferred"} ! ovarian dysfunction
is_a: MONDO:0005387 {source="linkedlifedata", source="linkedlifedata/inferred"} ! primary ovarian failure
property_value: closeMatch http://identifiers.org/snomedct/154713003
property_value: closeMatch http://identifiers.org/snomedct/190544007
property_value: closeMatch http://identifiers.org/snomedct/237789005
property_value: closeMatch http://identifiers.org/snomedct/267486007
property_value: closeMatch http://identifiers.org/snomedct/373717006
property_value: closeMatch http://identifiers.org/snomedct/74296006
property_value: exactMatch DOID:10787
property_value: exactMatch http://identifiers.org/mesh/D008594
property_value: exactMatch http://identifiers.org/snomedct/237788002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025322
property_value: exactMatch NCIT:C80099

[Term]
id: MONDO:0001120
name: chronic frontal sinusitis
def: "Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "frontal sinusitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:139841 {source="MONDO:equivalentTo"}
xref: DOID:10790 {source="MONDO:equivalentTo"}
xref: ICD10:J32.1 {source="MONDO:equivalentTo", source="DOID:10790"}
xref: ICD9:473.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10790"}
xref: NCIT:C34473 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10790"}
xref: SCTID:60130002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10790"}
xref: UMLS:C0008683 {source="NCIT:C34473", source="MONDO:equivalentTo", source="DOID:10790"}
is_a: MONDO:0001121 {source="DOID:10790", source="MONDO:Redundant", source="MONDOLEX:0001120", source="NCIT:C34473", source="linkedlifedata"} ! frontal sinusitis
is_a: MONDO:0006031 {source="MONDO:Redundant", source="NCIT:C34473", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic rhinosinusitis
property_value: closeMatch http://identifiers.org/snomedct/155527004
property_value: closeMatch http://identifiers.org/snomedct/195786002
property_value: exactMatch DOID:10790
property_value: exactMatch http://identifiers.org/snomedct/60130002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008683
property_value: exactMatch NCIT:C34473

[Term]
id: MONDO:0001121
name: frontal sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." [NCIT:P378]
xref: DOID:10791 {source="MONDO:equivalentTo"}
xref: ICD10:J32.1 {source="MONDO:superClassOf", source="DOID:10791"}
xref: MESH:D015522 {source="MONDO:equivalentTo", source="DOID:10791", source="MONDO:ontobio"}
xref: NCIT:C34626 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10791"}
xref: SCTID:78737005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10791"}
xref: UMLS:C0016735 {source="MONDO:equivalentTo", source="DOID:10791", source="NCIT:C34626"}
is_a: MONDO:0005961 {source="DOID:10791", source="MESH:D015522", source="MONDO:Redundant", source="NCIT:C34626", source="linkedlifedata"} ! sinusitis
property_value: closeMatch http://identifiers.org/snomedct/195786002
property_value: closeMatch http://identifiers.org/snomedct/275485006
property_value: exactMatch DOID:10791
property_value: exactMatch http://identifiers.org/mesh/D015522
property_value: exactMatch http://identifiers.org/snomedct/78737005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016735
property_value: exactMatch NCIT:C34626

[Term]
id: MONDO:0001122
name: chronic maxillary sinusitis
def: "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "chronic antritis" EXACT [DOID:10792]
synonym: "maxillary sinusitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:134668 {source="MONDO:equivalentTo"}
xref: DOID:10792 {source="MONDO:equivalentTo"}
xref: ICD10:J32.0 {source="MONDO:equivalentTo", source="DOID:10792"}
xref: ICD9:473.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10792"}
xref: NCIT:C34477 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10792"}
xref: SCTID:35923002 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="MONDO:equivalentTo", source="DOID:10792"}
xref: UMLS:C0008698 {source="MONDO:equivalentTo", source="NCIT:C34477", source="DOID:10792"}
is_a: MONDO:0005842 {source="DOID:10792", source="MONDO:Redundant", source="MONDOLEX:0001122", source="NCIT:C34477", source="linkedlifedata"} ! maxillary sinusitis
is_a: MONDO:0006031 ! chronic rhinosinusitis
property_value: closeMatch http://identifiers.org/snomedct/155526008
property_value: closeMatch http://identifiers.org/snomedct/195785003
property_value: closeMatch http://identifiers.org/snomedct/8299006
property_value: exactMatch DOID:10792
property_value: exactMatch http://identifiers.org/snomedct/35923002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008698
property_value: exactMatch NCIT:C34477

[Term]
id: MONDO:0001123
name: chronic sphenoidal sinusitis
def: "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "chronic sphenoid sinusitis" EXACT [MONDO:design_pattern]
synonym: "sphenoid sinusitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "sphenoidal sinus-chr." EXACT [DOID:10793]
xref: COHD:134661 {source="MONDO:equivalentTo"}
xref: DOID:10793 {source="MONDO:equivalentTo"}
xref: ICD10:J32.3 {source="MONDO:equivalentTo", source="DOID:10793"}
xref: ICD9:473.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10793"}
xref: NCIT:C34480 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10793"}
xref: SCTID:38961000 {source="MONDO:equivalentTo", source="DOID:10793", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0008712 {source="NCIT:C34480", source="MONDO:equivalentTo", source="DOID:10793"}
is_a: MONDO:0005964 {source="DOID:10793", source="MONDO:Redundant", source="MONDOLEX:0001123", source="NCIT:C34480", source="linkedlifedata"} ! sphenoid sinusitis
is_a: MONDO:0006031 ! chronic rhinosinusitis
property_value: closeMatch http://identifiers.org/snomedct/155528009
property_value: closeMatch http://identifiers.org/snomedct/266384001
property_value: exactMatch DOID:10793
property_value: exactMatch http://identifiers.org/snomedct/38961000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008712
property_value: exactMatch NCIT:C34480

[Term]
id: MONDO:0001124
name: obsolete filariasis
is_obsolete: true
replaced_by: MONDO:0016075

[Term]
id: MONDO:0001125
name: acute gonococcal epididymo-orchitis
def: "Acute form of gonococcal epididymo-orchitis." [MONDO:patterns/acute]
synonym: "gonococcal epididymo-orchitis" EXACT EXCLUDE [DOID:10802]
synonym: "gonococcal epididymo-orchitis (acute)" EXACT [DOID:10802, ICD9CM_2006:098.13]
synonym: "gonococcal epididymo-orchitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10802 {source="MONDO:equivalentTo"}
xref: ICD9:098.13 {source="MONDO:equivalentTo", source="DOID:10802", source="i2s"}
xref: SCTID:30168008 {source="MONDO:equivalentTo", source="DOID:10802", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153193 {source="MONDO:equivalentTo", source="DOID:10802"}
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0021158 {source="MONDO:Redundant", source="MONDOLEX:0001125", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal epididymo-orchitis
property_value: closeMatch http://identifiers.org/snomedct/186912008
property_value: exactMatch DOID:10802
property_value: exactMatch http://identifiers.org/snomedct/30168008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153193

[Term]
id: MONDO:0001126
name: gastric ulcer (disease)
def: "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." [NCIT:P378]
synonym: "acute gastric ulcer with haemorrhage and perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and with perforation but without obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation and obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [DOID:10808]
synonym: "bleeding acute gastric ulcer" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808]
synonym: "gastric ulcer" EXACT [MONDO:ambiguous]
synonym: "peptic ulcer disease of stomach" EXACT [MONDO:design_pattern]
synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location]
xref: COHD:4265600 {source="MONDO:equivalentTo"}
xref: DOID:10808 {source="MONDO:equivalentTo"}
xref: HP:0002592 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K25 {source="MONDO:equivalentTo", source="DOID:10808"}
xref: ICD9:531 {source="DOID:10808"}
xref: MESH:D013276 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10808"}
xref: NCIT:C3388 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10808"}
xref: SCTID:397825006 {source="MONDO:equivalentTo", source="DOID:10808", source="MONDO:kboom-pr-1.00/0.85/6.48"}
xref: UMLS:C0038358 {source="MONDO:equivalentTo", source="NCIT:C3388", source="DOID:10808"}
is_a: MONDO:0004247 {source="DOID:10808", source="MESH:D013276", source="MONDO:Redundant", source="NCIT:C3388"} ! peptic ulcer disease
is_a: MONDO:0004298 {source="MESH:D013276/inferred", source="MONDO:Redundant", source="NCIT:C3388/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! stomach disease
property_value: closeMatch http://identifiers.org/snomedct/155681009
property_value: closeMatch http://identifiers.org/snomedct/155690002
property_value: closeMatch http://identifiers.org/snomedct/196627009
property_value: closeMatch http://identifiers.org/snomedct/196642007
property_value: closeMatch http://identifiers.org/snomedct/196649003
property_value: closeMatch http://identifiers.org/snomedct/196650003
property_value: closeMatch http://identifiers.org/snomedct/266436006
property_value: closeMatch http://identifiers.org/snomedct/6034002
property_value: exactMatch DOID:10808
property_value: exactMatch http://identifiers.org/mesh/D013276
property_value: exactMatch http://identifiers.org/snomedct/397825006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038358
property_value: exactMatch NCIT:C3388

[Term]
id: MONDO:0001127
name: tibialis tendinitis
def: "A tendinitis that involves the tibialis." [MONDO:patterns/location]
synonym: "tendinitis of tibialis" EXACT [MONDO:design_pattern]
synonym: "tibialis tendinitis" EXACT [MONDO:patterns/location]
xref: COHD:77081 {source="MONDO:equivalentTo"}
xref: DOID:10810 {source="MONDO:equivalentTo"}
xref: ICD9:726.72 {source="DOID:10810", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:50127006 {source="DOID:10810", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158321 {source="DOID:10810", source="MONDO:equivalentTo"}
is_a: MONDO:0004857 {source="DOID:10810", source="MONDO:Redundant", source="linkedlifedata"} ! tendinitis
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch DOID:10810
property_value: exactMatch http://identifiers.org/snomedct/50127006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158321

[Term]
id: MONDO:0001128
name: nasal cavity cancer
def: "A malignant neoplasm involving the nasal cavity" [MONDO:DesignPattern]
synonym: "cancer of nasal cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant nasal cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4918]
synonym: "malignant nasal cavity tumor" EXACT [NCIT:C4918]
synonym: "malignant neoplasm of nasal cavities" EXACT [DOID:10811, ICD9CM_2006:160.0]
synonym: "malignant neoplasm of nasal cavity" EXACT [MONDO:patterns/cancer, NCIT:C4918]
synonym: "malignant neoplasm of the nasal cavity" EXACT [NCIT:C4918]
synonym: "malignant tumor of nasal cavity" EXACT [NCIT:C4918]
synonym: "malignant tumor of the nasal cavity" EXACT [DOID:10811, NCIT:C4918]
synonym: "nasal cavity cancer" EXACT [MONDO:patterns/location]
xref: COHD:4177107 {source="MONDO:equivalentTo"}
xref: DOID:10811 {source="MONDO:equivalentTo"}
xref: ICD10:C30.0 {source="DOID:10811"}
xref: ICD9:160.0 {source="DOID:10811", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4918 {source="DOID:10811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: SCTID:363422006 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="DOID:10811", source="MONDO:equivalentTo"}
xref: UMLS:C0728864 {source="DOID:10811", source="NCIT:C4918", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 {source="DOID:10811", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer
is_a: MONDO:0000649 ! sensory system cancer
is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4918", source="linkedlifedata"} ! nasal cavity neoplasm
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C4918"} ! head and neck cancer
property_value: closeMatch http://identifiers.org/snomedct/187832001
property_value: closeMatch http://identifiers.org/snomedct/93917007
property_value: exactMatch DOID:10811
property_value: exactMatch http://identifiers.org/snomedct/363422006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0728864
property_value: exactMatch NCIT:C4918

[Term]
id: MONDO:0001129
name: nasal cavity olfactory neuroblastoma
def: "An olfactory neuroblastoma arising in the nasal cavity." [NCIT:C7604]
synonym: "nasal cavity olfactory neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C7604]
synonym: "olfactory neuroblastoma of nasal cavity" EXACT [NCIT:C7604]
synonym: "olfactory neuroblastoma of the nasal cavity" EXACT [DOID:10812, NCIT:C7604]
xref: DOID:10812 {source="MONDO:equivalentTo"}
xref: NCIT:C7604 {source="DOID:10812", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334923 {source="DOID:10812", source="MONDO:equivalentTo", source="NCIT:C7604"}
is_a: MONDO:0001128 {source="DOID:10812", source="MONDO:Redundant", source="NCIT:C7604"} ! nasal cavity cancer
is_a: MONDO:0006329 {source="DOID:10812", source="MONDO:Redundant", source="NCIT:C7604"} ! olfactory neuroblastoma
property_value: exactMatch DOID:10812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334923
property_value: exactMatch NCIT:C7604

[Term]
id: MONDO:0001130
name: nasal cavity lymphoma
def: "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area." [NCIT:C6074]
synonym: "lymphoma of nasal cavity" EXACT [DOID:10813, NCIT:C6074]
synonym: "lymphoma of the nasal cavity" EXACT [DOID:10813, NCIT:C6074]
synonym: "nasal cavity lymphoma" EXACT [MONDO:patterns/location, NCIT:C6074]
synonym: "primary nasal cavity lymphoma" EXACT [NCIT:C6074]
xref: DOID:10813 {source="MONDO:equivalentTo"}
xref: NCIT:C6074 {source="MONDO:equivalentTo", source="DOID:10813", source="exact-label-match"}
xref: UMLS:C1334921 {source="MONDO:equivalentTo", source="DOID:10813", source="NCIT:C6074"}
is_a: MONDO:0001128 {source="DOID:10813", source="NCIT:C6074"} ! nasal cavity cancer
is_a: MONDO:0005062 {source="DOID:10813", source="MONDO:Redundant", source="NCIT:C6074/inferred"} ! lymphoma
property_value: exactMatch DOID:10813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334921
property_value: exactMatch NCIT:C6074

[Term]
id: MONDO:0001131
name: obsolete duodenum adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006186

[Term]
id: MONDO:0001132
name: sexual sadism disorder
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." [NCIT:C94358]
synonym: "sexual sadism" EXACT [DOID:10817, NCIT:C94358]
xref: DOID:10817 {source="MONDO:equivalentTo"}
xref: ICD10:F65.52 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: ICD9:302.84 {source="MONDO:equivalentTo", source="i2s", source="DOID:10817"}
xref: MESH:D012448 {source="MONDO:equivalentTo", source="DOID:10817", source="MONDO:ontobio"}
xref: NCIT:C94358 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: SCTID:59394009 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:10817"}
is_a: MONDO:0000595 {source="DOID:10817", source="NCIT:C94358", source="linkedlifedata", source="linkedlifedata/inferred"} ! sexual and gender identity disorders
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036913
property_value: exactMatch DOID:10817
property_value: exactMatch http://identifiers.org/mesh/D012448
property_value: exactMatch http://identifiers.org/snomedct/59394009
property_value: exactMatch NCIT:C94358

[Term]
id: MONDO:0001133
name: malignant essential hypertension
def: "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." [NCIT:P378]
synonym: "accelerated essential hypertension" EXACT [DOID:10823]
synonym: "malignant essential hypertension" EXACT [DOID:10823, NCIT:C34802]
xref: COHD:317898 {source="MONDO:equivalentTo"}
xref: DOID:10823 {source="MONDO:equivalentTo"}
xref: ICD9:401.0 {source="DOID:10823", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:78975002 {source="DOID:10823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024588 {source="DOID:10823", source="MONDO:equivalentTo"}
is_a: MONDO:0001134 {source="DOID:10823", source="MONDOLEX:0001133", source="linkedlifedata"} ! essential hypertension
is_a: MONDO:0006846 {source="DOID:10823", source="linkedlifedata"} ! malignant hypertension
property_value: closeMatch http://identifiers.org/snomedct/1218009
property_value: exactMatch DOID:10823
property_value: exactMatch http://identifiers.org/snomedct/78975002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024588
property_value: exactMatch NCIT:C34802

[Term]
id: MONDO:0001134
name: essential hypertension
def: "Hypertension that presents without an identifiable cause." [NCIT:P378]
synonym: "idiopathic hypertension" EXACT [CSP2005:4003-0017, DOID:10825, https://en.wikipedia.org/wiki/Essential_hypertension]
synonym: "primary hypertension" EXACT [DOID:10825, https://en.wikipedia.org/wiki/Essential_hypertension, NCIT:C3478]
xref: COHD:320128 {source="MONDO:equivalentTo"}
xref: DOID:10825 {source="MONDO:equivalentTo"}
xref: EFO:1002032 {source="MONDO:equivalentTo"}
xref: ICD10:I10 {source="DOID:10825"}
xref: ICD9:401 {source="DOID:10825"}
xref: ICD9:401.9 {source="DOID:10825", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562386 {source="DOID:10825", source="MONDO:equivalentTo"}
xref: SCTID:59621000 {source="MONDO:kboom-pr-1.00/0.81/10.83", source="DOID:10825", source="MONDO:equivalentTo"}
xref: UMLS:C0085580 {source="MEDGEN:kboom-pr98-c99", source="DOID:10825", source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="DOID:10825", source="EFO:1002032", source="MESH:C562386", source="linkedlifedata"} ! hypertensive disorder
property_value: closeMatch http://identifiers.org/snomedct/155296003
property_value: closeMatch http://identifiers.org/snomedct/194757006
property_value: closeMatch http://identifiers.org/snomedct/194760004
property_value: closeMatch http://identifiers.org/snomedct/266228004
property_value: closeMatch Orphanet:243761
property_value: exactMatch DOID:10825
property_value: exactMatch http://identifiers.org/mesh/C562386
property_value: exactMatch http://identifiers.org/snomedct/59621000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085580
property_value: exactMatch NCIT:C3478

[Term]
id: MONDO:0001135
name: voyeurism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." [NCIT:P378]
xref: DOID:10834 {source="MONDO:equivalentTo"}
xref: ICD10:F65.3 {source="DOID:10834", source="MONDO:equivalentTo"}
xref: ICD9:302.82 {source="DOID:10834", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014843 {source="DOID:10834", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94360 {source="DOID:10834", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:63835008 {source="DOID:10834", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000596 {source="DOID:10834", source="MESH:D014843", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraphilic disorder
property_value: closeMatch http://identifiers.org/snomedct/192515002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042979
property_value: exactMatch DOID:10834
property_value: exactMatch http://identifiers.org/mesh/D014843
property_value: exactMatch http://identifiers.org/snomedct/63835008
property_value: exactMatch NCIT:C94360

[Term]
id: MONDO:0001136
name: chylocele of tunica vaginalis
xref: COHD:435602 {source="MONDO:equivalentTo"}
xref: DOID:10835 {source="MONDO:equivalentTo"}
xref: ICD9:608.84 {source="MONDO:equivalentTo", source="DOID:10835", source="i2s"}
xref: SCTID:7864001 {source="MONDO:equivalentTo", source="DOID:10835", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156315 {source="MONDO:equivalentTo", source="DOID:10835"}
is_a: MONDO:0002329 ! testicular disease
property_value: exactMatch DOID:10835
property_value: exactMatch http://identifiers.org/snomedct/7864001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156315

[Term]
id: MONDO:0001137
name: Murray valley encephalitis
def: "An disease caused by infection with Murray Valley encephalitis virus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Australian encephalitis" EXACT [DOID:10842, ICD9CM_2006:062.4]
synonym: "Australian X disease" EXACT [DOID:10842, MTHICD9_2006:062.4]
synonym: "Murray Valley encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Murray Valley encephalitis virus disease or disorder" EXACT []
synonym: "Murray Valley encephalitis virus infectious disease" EXACT []
xref: DOID:10842 {source="MONDO:equivalentTo"}
xref: ICD10:A83.4 {source="DOID:10842", source="MONDO:equivalentTo"}
xref: ICD9:062.4 {source="DOID:10842"}
xref: SCTID:66454007 {source="DOID:10842", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153066 {source="DOID:10842", source="MONDO:equivalentTo"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:10842
property_value: exactMatch http://identifiers.org/snomedct/66454007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153066

[Term]
id: MONDO:0001138
name: angiodysplasia of intestine
def: "A angiodysplasia that involves the intestine." [MONDO:patterns/location]
synonym: "intestine angiodysplasia" EXACT [MONDO:patterns/location]
xref: COHD:196444 {source="MONDO:equivalentTo"}
xref: DOID:10846 {source="MONDO:equivalentTo"}
xref: ICD9:569.84 {source="MONDO:equivalentTo", source="DOID:10846", source="i2s"}
xref: ICD9:569.85 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:235853006 {source="MONDO:equivalentTo", source="DOID:10846", source="MONDO:kboom-pr-0.96/0.92/0.18"}
xref: UMLS:C0267367 {source="MONDO:equivalentTo", source="DOID:10846"}
is_a: MONDO:0002322 {source="DOID:10846", source="MONDO:Entailed", source="MONDO:Redundant"} ! angiodysplasia
is_a: MONDO:0005020 {source="DOID:10846", source="MONDO:Entailed", source="MONDO:Redundant"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/32868004
property_value: exactMatch DOID:10846
property_value: exactMatch http://identifiers.org/snomedct/235853006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267367

[Term]
id: MONDO:0001139
name: sexual masochism disorder
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." [NCIT:C94356]
synonym: "sexual masochism" EXACT [DOID:10849, NCIT:C94356]
xref: DOID:10849 {source="MONDO:equivalentTo"}
xref: ICD10:F65.51 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: ICD9:302.83 {source="MONDO:equivalentTo", source="DOID:10849", source="i2s"}
xref: MESH:D008398 {source="MONDO:equivalentTo", source="DOID:10849", source="MONDO:ontobio"}
xref: NCIT:C94356 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: SCTID:51239001 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:10849"}
is_a: MONDO:0000595 {source="DOID:10849", source="NCIT:C94356", source="linkedlifedata", source="linkedlifedata/inferred"} ! sexual and gender identity disorders
property_value: closeMatch http://identifiers.org/snomedct/248104007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036908
property_value: exactMatch DOID:10849
property_value: exactMatch http://identifiers.org/mesh/D008398
property_value: exactMatch http://identifiers.org/snomedct/51239001
property_value: exactMatch NCIT:C94356

[Term]
id: MONDO:0001140
name: obsolete Edwards syndrome
is_obsolete: true
replaced_by: MONDO:0018071

[Term]
id: MONDO:0001141
name: middle ear cholesterol granuloma
def: "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response." [NCIT:P378]
synonym: "cholesterin granuloma" EXACT [DOID:10852]
synonym: "cholesterin granuloma of middle ear" EXACT [DOID:10852, ICD9CM_2006:385.82]
xref: DOID:10852 {source="MONDO:equivalentTo"}
xref: ICD9:385.82 {source="DOID:10852", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:28371001 {source="DOID:10852", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155492 {source="DOID:10852", source="MONDO:equivalentTo"}
is_a: MONDO:0005441 {source="DOID:10852", source="linkedlifedata"} ! otitis media (disease)
property_value: exactMatch DOID:10852
property_value: exactMatch http://identifiers.org/snomedct/28371001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155492
property_value: exactMatch NCIT:C3655

[Term]
id: MONDO:0001142
name: salivary gland disease
def: "A disease involving the saliva-secreting gland." [MONDO:DesignPattern]
synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of saliva-secreting gland" EXACT []
synonym: "disorder of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of saliva-secreting gland" RELATED [MONDO:patterns/location_top]
synonym: "non-neoplastic salivary gland disease" EXACT [DOID:10854, NCIT:C27662]
synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location]
synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "salivary gland disease" EXACT [DOID:10854, NCIT:C26879]
synonym: "salivary gland disorder" EXACT [NCIT:C26879]
xref: COHD:25572 {source="MONDO:equivalentTo"}
xref: DOID:10854 {source="MONDO:equivalentTo"}
xref: EFO:0008581 {source="MONDO:equivalentTo"}
xref: ICD9:527.8 {source="DOID:10854", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:527.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26879 {source="MONDO:equivalentTo"}
xref: SCTID:10890000 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo"}
xref: UMLS:C0036093 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26879"}
is_a: MONDO:0006858 {source="DOID:10854", source="EFO:0008581", source="MESH:D012466", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029773
property_value: exactMatch DOID:10854
property_value: exactMatch http://identifiers.org/mesh/D012466
property_value: exactMatch http://identifiers.org/snomedct/10890000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036093
property_value: exactMatch NCIT:C26879

[Term]
id: MONDO:0001143
name: paralytic strabismus
synonym: "incomitant dissociation" EXACT [DOID:10863]
synonym: "paralytic squint" EXACT DEPRECATED [DOID:10863]
xref: COHD:381862 {source="MONDO:equivalentTo"}
xref: DOID:10863 {source="MONDO:equivalentTo"}
xref: HP:0031775
xref: ICD10:H49 {source="DOID:10863"}
xref: ICD10:H49.9 {source="DOID:10863"}
xref: ICD9:378.5 {source="DOID:10863"}
xref: ICD9:378.50 {source="DOID:10863", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:400942002 {source="DOID:10863", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152221 {source="DOID:10863", source="MONDO:equivalentTo"}
is_a: MONDO:0003432 {source="DOID:10863", source="linkedlifedata"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/12942001
property_value: closeMatch http://identifiers.org/snomedct/194117002
property_value: closeMatch http://identifiers.org/snomedct/194120005
property_value: exactMatch DOID:10863
property_value: exactMatch http://identifiers.org/snomedct/400942002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152221

[Term]
id: MONDO:0001144
name: partial third-nerve palsy
synonym: "partial third nerve palsy" EXACT [DOID:10864]
synonym: "third nerve palsy with pupil sparing" EXACT [DOID:10864]
synonym: "third or oculomotor nerve palsy, partial" EXACT [DOID:10864, ICD9CM_2006:378.51]
xref: DOID:10864 {source="MONDO:equivalentTo"}
xref: ICD9:378.51 {source="DOID:10864", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:194118007 {source="DOID:10864", source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0271370 {source="DOID:10864", source="MONDO:equivalentTo"}
is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlifedata"} ! oculomotor nerve paralysis
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10864"} ! paralytic strabismus
property_value: closeMatch http://identifiers.org/snomedct/3171005
property_value: closeMatch http://identifiers.org/snomedct/420289002
property_value: exactMatch DOID:10864
property_value: exactMatch http://identifiers.org/snomedct/194118007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271370

[Term]
id: MONDO:0001145
name: total third-nerve palsy
synonym: "third nerve palsy with pupil involved" EXACT [DOID:10866]
synonym: "third or oculomotor nerve palsy, total" EXACT [DOID:10866, ICD9CM_2006:378.52]
synonym: "total third nerve palsy" EXACT [DOID:10866]
xref: DOID:10866 {source="MONDO:equivalentTo"}
xref: ICD9:378.52 {source="DOID:10866", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:194119004 {source="DOID:10866", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.03"}
xref: UMLS:C0271371 {source="DOID:10866", source="MONDO:equivalentTo"}
is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlifedata"} ! oculomotor nerve paralysis
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10866"} ! paralytic strabismus
property_value: closeMatch http://identifiers.org/snomedct/85522003
property_value: exactMatch DOID:10866
property_value: exactMatch http://identifiers.org/snomedct/194119004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271371

[Term]
id: MONDO:0001146
name: fourth cranial nerve palsy
def: "A cranial nerve palsy that involves the trochlear nerve." [MONDO:patterns/location]
synonym: "cranial nerve palsy of trochlear nerve" EXACT []
synonym: "fourth nerve palsy" EXACT [DOID:10869]
synonym: "fourth or trochlear nerve palsy" EXACT [DOID:10869, ICD9CM_2006:378.53]
synonym: "trochlear nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
xref: COHD:378439 {source="MONDO:equivalentTo"}
xref: DOID:10869 {source="MONDO:equivalentTo"}
xref: ICD9:378.53 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:20610004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.35"}
is_a: MONDO:0002782 ! cranial nerve palsy
is_a: MONDO:0007002 ! trochlear nerve disease
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10869"} ! paralytic strabismus
property_value: exactMatch DOID:10869
property_value: exactMatch http://identifiers.org/snomedct/20610004

[Term]
id: MONDO:0001147
name: meningocele (disease)
def: "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." [NCIT:C105595]
subset: gard_rare
synonym: "central nervous system meningocele" EXACT [NCIT:C105595]
synonym: "meningocele" EXACT [MONDO:ambiguous, NCIT:C105595]
synonym: "spinal meningocele" NARROW []
xref: DOID:1088 {source="MONDO:equivalentTo"}
xref: GARD:0003471 {source="MONDO:equivalentTo"}
xref: HP:0002435 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D008588 {source="DOID:1088", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C101209 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.67/0.11"}
xref: NCIT:C105595 {source="MONDO:equivalentTo"}
xref: Orphanet:93968 {source="MONDO:equivalentTo"}
xref: SCTID:171131006 {source="DOID:1088", source="MONDO:kboom-pr-1.00/0.84/14.76", source="MONDO:equivalentTo"}
xref: UMLS:C0025299 {source="DOID:1088", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 {source="NCIT:C105595"} ! congenital nervous system disorder
relationship: excluded_subClassOf MONDO:0008449 {source="DOID:1088"} ! spina bifida (disease)
property_value: closeMatch http://identifiers.org/snomedct/156890007
property_value: closeMatch http://identifiers.org/snomedct/253121009
property_value: closeMatch http://identifiers.org/snomedct/268308005
property_value: closeMatch http://identifiers.org/snomedct/32941003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009730
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1261470
property_value: exactMatch DOID:1088
property_value: exactMatch http://identifiers.org/mesh/D008588
property_value: exactMatch http://identifiers.org/snomedct/171131006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025299
property_value: exactMatch NCIT:C101209
property_value: exactMatch NCIT:C105595
property_value: exactMatch Orphanet:93968

[Term]
id: MONDO:0001148
name: iliac vein thrombophlebitis
def: "A thrombophlebitis that involves the iliac vein." [MONDO:patterns/location]
synonym: "iliac vein thrombophlebitis" EXACT [MONDO:patterns/location]
synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [DOID:10880]
synonym: "thrombophlebitis of iliac vein" EXACT [MONDO:design_pattern]
xref: DOID:10880 {source="MONDO:equivalentTo"}
xref: ICD10:I80.21 {source="DOID:10880"}
xref: ICD9:451.81 {source="DOID:10880"}
xref: SCTID:42861008 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C0347887 {source="MONDO:equivalentTo"}
is_a: MONDO:0002800 {source="DOID:10880", source="MONDO:Redundant", source="MONDOLEX:0001148"} ! thrombophlebitis
property_value: closeMatch http://identifiers.org/snomedct/195429006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155772
property_value: exactMatch DOID:10880
property_value: exactMatch http://identifiers.org/snomedct/42861008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347887

[Term]
id: MONDO:0001149
name: microcephaly (disease)
def: "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." [NCIT:P378]
subset: gard_rare
synonym: "microcephalus" EXACT [DOID:10907, ICD9CM_2006:742.1]
synonym: "microcephaly" EXACT [MONDO:ambiguous]
synonym: "microencephaly" EXACT [CSP2005:0723-5649, DOID:10907]
xref: COHD:381114 {source="MONDO:equivalentTo"}
xref: DOID:10907 {source="MONDO:equivalentTo"}
xref: GARD:0003603 {source="MONDO:equivalentTo"}
xref: HP:0000252 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q02 {source="DOID:10907"}
xref: ICD9:742.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10907"}
xref: NCIT:C85874 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10907"}
xref: SCTID:1829003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.47", source="DOID:10907"}
is_a: MONDO:0002320 {source="DOID:10907"} ! congenital nervous system disorder
property_value: closeMatch http://identifiers.org/mesh/D008831
property_value: closeMatch http://identifiers.org/snomedct/156893009
property_value: closeMatch http://identifiers.org/snomedct/204030002
property_value: closeMatch http://identifiers.org/snomedct/204031003
property_value: exactMatch DOID:10907
property_value: exactMatch http://identifiers.org/snomedct/1829003
property_value: exactMatch NCIT:C85874

[Term]
id: MONDO:0001150
name: hydrocephalus
def: "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." [NCIT:C3111]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive" NARROW [DOID:10908, OMIM:236600]
synonym: "hydrocephalus, X-linked" NARROW [DOID:10908, MESH:C536078]
xref: COHD:4043738 {source="MONDO:equivalentTo"}
xref: DOID:10908 {source="MONDO:equivalentTo"}
xref: ICD10:G91 {source="MONDO:equivalentTo", source="DOID:10908"}
xref: ICD10:G91.9 {source="DOID:10908"}
xref: MESH:D006849 {source="MONDO:equivalentTo", source="DOID:10908"}
xref: NCIT:C3111 {source="MONDO:equivalentTo", source="DOID:10908", source="exact-label-match"}
xref: SCTID:230745008 {source="MONDO:equivalentTo", source="DOID:10908"}
is_a: MONDO:0005560 ! brain disease
relationship: excluded_subClassOf MONDO:0005559 {source="DOID:10908"} ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/154995000
property_value: closeMatch http://identifiers.org/snomedct/154997008
property_value: closeMatch http://identifiers.org/snomedct/192807008
property_value: closeMatch http://identifiers.org/snomedct/267687006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020255
property_value: exactMatch DOID:10908
property_value: exactMatch http://identifiers.org/mesh/D006849
property_value: exactMatch http://identifiers.org/snomedct/230745008
property_value: exactMatch NCIT:C3111

[Term]
id: MONDO:0001151
name: benign essential hypertension
def: "A condition of mild to moderate high blood pressure that has no identifiable cause." [NCIT:P378]
synonym: "benign essential hypertension" EXACT [DOID:10913, NCIT:C3656]
xref: COHD:312648 {source="MONDO:equivalentTo"}
xref: DOID:10913 {source="MONDO:equivalentTo"}
xref: ICD9:401.1 {source="DOID:10913", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:1201005 {source="DOID:10913", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155583 {source="DOID:10913", source="MONDO:equivalentTo"}
is_a: MONDO:0001134 {source="DOID:10913", source="MONDOLEX:0001151", source="linkedlifedata"} ! essential hypertension
property_value: closeMatch http://identifiers.org/snomedct/194758001
property_value: exactMatch DOID:10913
property_value: exactMatch http://identifiers.org/snomedct/1201005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155583
property_value: exactMatch NCIT:C3656

[Term]
id: MONDO:0001152
name: amnestic disorder
def: "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." [NCIT:P378]
synonym: "amnesia" EXACT [DOID:10914]
synonym: "amnesic syndrome" RELATED []
synonym: "amnestic syndrome" EXACT [DOID:10914, NCIT:C35764]
synonym: "Korsakoff's psychosis or syndrome" EXACT [DOID:10914, MTHICD9_2006:294.0]
xref: COHD:372608 {source="MONDO:equivalentTo"}
xref: DOID:10914 {source="MONDO:equivalentTo"}
xref: EFO:1001454 {source="MONDO:equivalentTo"}
xref: ICD10:R41.3 {source="DOID:10914"}
xref: ICD9:294.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10914"}
xref: SCTID:3298001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10914"}
is_a: MONDO:0002039 {source="DOID:10914", source="EFO:1001454", source="MESH:D000647"} ! cognitive disorder
property_value: closeMatch http://identifiers.org/mesh/D000647
property_value: closeMatch http://identifiers.org/snomedct/162199006
property_value: closeMatch http://identifiers.org/snomedct/247606008
property_value: closeMatch http://identifiers.org/snomedct/386807006
property_value: closeMatch http://identifiers.org/snomedct/48167000
property_value: closeMatch http://identifiers.org/snomedct/78461004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002622
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002625
property_value: exactMatch DOID:10914
property_value: exactMatch http://identifiers.org/snomedct/3298001
property_value: exactMatch NCIT:C2867

[Term]
id: MONDO:0001153
name: gender dysphoria
def: "A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" [MESH:D000068116]
synonym: "transsexualism" RELATED []
xref: DOID:10919 {source="MONDO:equivalentTo"}
xref: ICD9:302.50 {source="DOID:10919"}
xref: MESH:D000068116 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:93461009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001500 {source="DOID:10919", source="linkedlifedata", source="linkedlifedata/inferred"} ! gender identity disorder
property_value: closeMatch http://identifiers.org/snomedct/191782007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040630
property_value: exactMatch DOID:10919
property_value: exactMatch http://identifiers.org/mesh/D000068116
property_value: exactMatch http://identifiers.org/snomedct/93461009

[Term]
id: MONDO:0001154
name: Siberian tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash." [DOID:10921, http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, http://www.cdc.gov/otherspottedfever/index.html]
synonym: "Manchurian typhus" EXACT [DOID:10921]
synonym: "North Asian tick fever" EXACT [DOID:10921, ICD9CM_2006:082.2]
synonym: "North Asian tick fever (disorder) [ambiguous]" EXACT [DOID:10921]
synonym: "North Asian tick typhus" EXACT [DOID:10921]
synonym: "Rickettsia sibirica spotted fever" EXACT [DOID:10921]
xref: DOID:10921 {source="MONDO:equivalentTo"}
xref: ICD10:A77.2 {source="DOID:10921"}
xref: ICD9:082.2 {source="DOID:10921", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:186781003 {source="DOID:10921", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0549160 {source="DOID:10921", source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:10921", source="MONDOLEX:0001154", source="linkedlifedata"} ! spotted fever
property_value: closeMatch http://identifiers.org/snomedct/186782005
property_value: closeMatch http://identifiers.org/snomedct/186783000
property_value: closeMatch http://identifiers.org/snomedct/7692008
property_value: exactMatch DOID:10921
property_value: exactMatch http://identifiers.org/snomedct/186781003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549160

[Term]
id: MONDO:0001155
name: gastrojejunal ulcer
synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation and obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [DOID:10927, ICD9CM_2006:534.11]
synonym: "acute gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM_2006:534.30]
synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [DOID:10927, ICD9CM_2006:534.01]
synonym: "chronic gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927]
synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927]
synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM_2006:534.70]
xref: DOID:10927 {source="MONDO:equivalentTo"}
xref: ICD10:K28.0 {source="MONDO:equivalentTo", source="DOID:10927"}
xref: ICD9:534.0 {source="DOID:10927"}
xref: SCTID:4269005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.75/1.11"}
xref: UMLS:C0156042 {source="MONDO:equivalentTo", source="DOID:10927"}
xref: UMLS:C0156044 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0156045 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0156047 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0156048 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0156050 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004247 {source="DOID:10927"} ! peptic ulcer disease
property_value: closeMatch http://identifiers.org/snomedct/196709002
property_value: closeMatch http://identifiers.org/snomedct/63954007
property_value: exactMatch DOID:10927
property_value: exactMatch http://identifiers.org/snomedct/4269005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156050

[Term]
id: MONDO:0001156
name: borderline personality disorder (disease)
def: "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." [NCIT:P378]
synonym: "borderline personality disorder" EXACT [MONDO:ambiguous]
synonym: "BPD" EXACT [NCIT:C92633]
xref: COHD:434626 {source="MONDO:equivalentTo"}
xref: DOID:10930 {source="MONDO:equivalentTo"}
xref: HP:0012076 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F60.3 {source="DOID:10930"}
xref: ICD9:301.83 {source="DOID:10930", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001883 {source="DOID:10930", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92633 {source="DOID:10930", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.84/0.77"}
xref: SCTID:20010003 {source="DOID:10930", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10930", source="NCIT:C92633", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/192488005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006012
property_value: exactMatch DOID:10930
property_value: exactMatch http://identifiers.org/mesh/D001883
property_value: exactMatch http://identifiers.org/snomedct/20010003
property_value: exactMatch NCIT:C92633

[Term]
id: MONDO:0001157
name: dependent personality disorder
def: "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." [NCIT:P378]
xref: COHD:437523 {source="MONDO:equivalentTo"}
xref: DOID:10931 {source="MONDO:equivalentTo"}
xref: ICD10:F60.7 {source="DOID:10931", source="MONDO:equivalentTo"}
xref: ICD9:301.6 {source="DOID:10931", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003859 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92637 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:84466009 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10931", source="NCIT:C92637", source="linkedlifedata"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/191768007
property_value: closeMatch http://identifiers.org/snomedct/192492003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011548
property_value: exactMatch DOID:10931
property_value: exactMatch http://identifiers.org/mesh/D003859
property_value: exactMatch http://identifiers.org/snomedct/84466009
property_value: exactMatch NCIT:C92637

[Term]
id: MONDO:0001158
name: obsessive-compulsive personality disorder
def: "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics." [NCIT:P378]
synonym: "anankastic personality disorder" RELATED [DOID:10932]
synonym: "obsessional personality" RELATED [DOID:10932, MTHICD9_2006:301.4]
synonym: "OCD" EXACT [NCIT:C92638]
synonym: "OCPD" EXACT [DOID:10932]
xref: COHD:443876 {source="MONDO:equivalentTo"}
xref: DOID:10932 {source="MONDO:equivalentTo"}
xref: ICD10:F60.5 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: ICD9:301.4 {source="DOID:10932", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003193 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: NCIT:C92638 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: SCTID:1376001 {source="DOID:10932", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
is_a: MONDO:0002028 {source="DOID:10932", source="NCIT:C92638", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/112091009
property_value: closeMatch http://identifiers.org/snomedct/154899005
property_value: closeMatch http://identifiers.org/snomedct/191760000
property_value: closeMatch http://identifiers.org/snomedct/191761001
property_value: closeMatch http://identifiers.org/snomedct/191762008
property_value: closeMatch http://identifiers.org/snomedct/192490006
property_value: closeMatch http://identifiers.org/snomedct/271200007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009595
property_value: exactMatch DOID:10932
property_value: exactMatch http://identifiers.org/mesh/D003193
property_value: exactMatch http://identifiers.org/snomedct/1376001
property_value: exactMatch NCIT:C92638

[Term]
id: MONDO:0001159
name: multiple personality disorder
def: "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." [NCIT:P378]
synonym: "dissociative identity disorder" EXACT [DOID:10934, ICD9CM_2006:300.14]
xref: COHD:435230 {source="MONDO:equivalentTo"}
xref: DOID:10934 {source="MONDO:equivalentTo"}
xref: ICD10:F44.81 {source="MONDO:equivalentTo", source="DOID:10934"}
xref: ICD9:300.14 {source="MONDO:equivalentTo", source="DOID:10934", source="i2s"}
xref: MESH:D009105 {source="MONDO:equivalentTo", source="DOID:10934", source="MONDO:ontobio"}
xref: NCIT:C94330 {source="MONDO:equivalentTo", source="DOID:10934", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:31611000 {source="MONDO:equivalentTo", source="DOID:10934", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001160 {source="DOID:10934", source="MESH:D009105", source="NCIT:C94330"} ! dissociative disorder
property_value: closeMatch http://identifiers.org/snomedct/192428007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026773
property_value: exactMatch DOID:10934
property_value: exactMatch http://identifiers.org/mesh/D009105
property_value: exactMatch http://identifiers.org/snomedct/31611000
property_value: exactMatch NCIT:C94330

[Term]
id: MONDO:0001160
name: dissociative disorder
def: "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." [NCIT:P378]
synonym: "dissociative disease" EXACT [DOID:10935]
synonym: "dissociative reaction" EXACT [CSP2005:2483-7018, DOID:10935]
xref: COHD:434889 {source="MONDO:equivalentTo"}
xref: DOID:10935 {source="MONDO:equivalentTo"}
xref: ICD10:F44.9 {source="DOID:10935"}
xref: ICD10:F48.9 {source="DOID:10935"}
xref: ICD9:300.15 {source="DOID:10935"}
xref: ICD9:300.9 {source="DOID:10935", source="MONDO:directSiblingOf"}
xref: MESH:D004213 {source="DOID:10935", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92197 {source="DOID:10935", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
is_a: MONDO:0002025 {source="DOID:10935", source="MESH:D004213", source="NCIT:C92197"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/154883004
property_value: closeMatch http://identifiers.org/snomedct/44376007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0012746
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041857
property_value: exactMatch DOID:10935
property_value: exactMatch http://identifiers.org/mesh/D004213
property_value: exactMatch NCIT:C92197

[Term]
id: MONDO:0001161
name: schizoid personality disorder
def: "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." [NCIT:P378]
xref: COHD:440085 {source="MONDO:equivalentTo"}
xref: DOID:10936 {source="MONDO:equivalentTo"}
xref: ICD10:F60.1 {source="MONDO:equivalentTo", source="DOID:10936"}
xref: ICD9:301.2 {source="DOID:10936"}
xref: ICD9:301.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:10936"}
xref: MESH:D012557 {source="MONDO:equivalentTo", source="DOID:10936", source="MONDO:ontobio"}
xref: NCIT:C92631 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10936"}
xref: SCTID:52954000 {source="MONDO:equivalentTo", source="DOID:10936", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10936", source="NCIT:C92631", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/191756003
property_value: closeMatch http://identifiers.org/snomedct/191758002
property_value: closeMatch http://identifiers.org/snomedct/192486009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036339
property_value: exactMatch DOID:10936
property_value: exactMatch http://identifiers.org/mesh/D012557
property_value: exactMatch http://identifiers.org/snomedct/52954000
property_value: exactMatch NCIT:C92631

[Term]
id: MONDO:0001162
name: impulse control disorder
def: "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." [NCIT:P378]
synonym: "ICD" EXACT [NCIT:C34723]
synonym: "impulse-control disorder" EXACT [NCIT:C34723]
xref: COHD:433752 {source="MONDO:equivalentTo"}
xref: DOID:10937 {source="MONDO:equivalentTo"}
xref: ICD10:F63.9 {source="DOID:10937"}
xref: ICD9:312.30 {source="MONDO:equivalentTo", source="DOID:10937", source="i2s"}
xref: ICD9:312.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34723 {source="MONDO:equivalentTo", source="DOID:10937", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:66347000 {source="MONDO:equivalentTo", source="DOID:10937", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002025 {source="DOID:10937", source="NCIT:C34723"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/mesh/D007174
property_value: closeMatch http://identifiers.org/snomedct/192095006
property_value: closeMatch http://identifiers.org/snomedct/192098008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021122
property_value: exactMatch DOID:10937
property_value: exactMatch http://identifiers.org/snomedct/66347000
property_value: exactMatch NCIT:C34723

[Term]
id: MONDO:0001163
name: paranoid personality disorder
def: "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." [NCIT:P378]
xref: COHD:440691 {source="MONDO:equivalentTo"}
xref: DOID:10938 {source="MONDO:equivalentTo"}
xref: ICD10:F60.0 {source="MONDO:equivalentTo", source="DOID:10938"}
xref: ICD9:301.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10938"}
xref: MESH:D010260 {source="MONDO:equivalentTo", source="DOID:10938", source="MONDO:ontobio"}
xref: NCIT:C92630 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10938"}
xref: SCTID:13601005 {source="MONDO:equivalentTo", source="DOID:10938", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/154896003
property_value: closeMatch http://identifiers.org/snomedct/191750009
property_value: closeMatch http://identifiers.org/snomedct/192485008
property_value: closeMatch http://identifiers.org/snomedct/270529002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030477
property_value: exactMatch DOID:10938
property_value: exactMatch http://identifiers.org/mesh/D010260
property_value: exactMatch http://identifiers.org/snomedct/13601005
property_value: exactMatch NCIT:C92630

[Term]
id: MONDO:0001164
name: antisocial personality disorder
def: "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" [NCIT:P378]
synonym: "asocial personality" EXACT [DOID:10939, MTHICD9_2006:301.7]
synonym: "dissocial personality disorder" EXACT [DOID:10939]
synonym: "psychopath.personality" EXACT [DOID:10939]
synonym: "psychopathic personality" EXACT [DOID:10939]
synonym: "psychopathic personality disorder" EXACT [DOID:10939, MTHICD9_2006:301.9]
synonym: "psychopathy" EXACT [NCIT:C88413]
synonym: "sociopathic personality" EXACT [CSP2005:2483-7185, DOID:10939]
synonym: "Sociopathy" EXACT [NCIT:C88413]
xref: COHD:440988 {source="MONDO:equivalentTo"}
xref: DOID:10939 {source="MONDO:equivalentTo"}
xref: ICD10:F60.2 {source="MONDO:equivalentTo", source="DOID:10939"}
xref: ICD9:301.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:10939"}
xref: MESH:D000987 {source="MONDO:equivalentTo", source="DOID:10939", source="MONDO:ontobio"}
xref: NCIT:C88413 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:10939"}
xref: SCTID:26665006 {source="MONDO:equivalentTo", source="DOID:10939", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:10939", source="NCIT:C88413", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/191769004
property_value: closeMatch http://identifiers.org/snomedct/191777000
property_value: closeMatch http://identifiers.org/snomedct/192487000
property_value: closeMatch http://identifiers.org/snomedct/268759009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003431
property_value: exactMatch DOID:10939
property_value: exactMatch http://identifiers.org/mesh/D000987
property_value: exactMatch http://identifiers.org/snomedct/26665006
property_value: exactMatch NCIT:C88413

[Term]
id: MONDO:0001165
name: tongue disease
def: "A disease involving the tongue." [MONDO:DesignPattern]
synonym: "disease of tongue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tongue" EXACT []
synonym: "disorder of tongue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of tongue" RELATED [MONDO:patterns/location_top]
synonym: "tongue disease" EXACT [MONDO:patterns/location]
synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10944 {source="MONDO:equivalentTo"}
xref: ICD10:K14 {source="DOID:10944"}
xref: ICD10:K14.9 {source="DOID:10944"}
xref: ICD9:529.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:529.9 {source="DOID:10944", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014060 {source="DOID:10944", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:69244009 {source="MONDO:kboom-pr-1.00/0.81/10.81", source="DOID:10944", source="MONDO:equivalentTo"}
xref: UMLS:C0040409 {source="DOID:10944", source="MONDO:equivalentTo"}
is_a: MONDO:0006858 {source="DOID:10944", source="MESH:D014060", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
property_value: closeMatch http://identifiers.org/snomedct/155533008
property_value: closeMatch http://identifiers.org/snomedct/155665004
property_value: closeMatch http://identifiers.org/snomedct/155667007
property_value: closeMatch http://identifiers.org/snomedct/196595001
property_value: closeMatch http://identifiers.org/snomedct/266496009
property_value: exactMatch DOID:10944
property_value: exactMatch http://identifiers.org/mesh/D014060
property_value: exactMatch http://identifiers.org/snomedct/69244009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040409

[Term]
id: MONDO:0001166
name: nephritis
def: "Inflammation of renal tissue." [NCIT:P378]
synonym: "inflammation of kidney" EXACT []
synonym: "kidney inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:193253 {source="MONDO:equivalentTo"}
xref: DOID:10952 {source="MONDO:equivalentTo"}
xref: ICD10:N05 {source="DOID:10952"}
xref: ICD10:N08 {source="DOID:10952"}
xref: ICD9:583.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009393 {source="DOID:10952", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26833 {source="DOID:10952", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:52845002 {source="DOID:10952", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0027697 {source="DOID:10952", source="MONDO:equivalentTo", source="NCIT:C26833"}
is_a: MONDO:0005240 {source="DOID:10952", source="MESH:D009393", source="MONDO:Redundant", source="NCIT:C26833/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155853001
property_value: closeMatch http://identifiers.org/snomedct/266615001
property_value: closeMatch http://identifiers.org/snomedct/274107001
property_value: exactMatch DOID:10952
property_value: exactMatch http://identifiers.org/mesh/D009393
property_value: exactMatch http://identifiers.org/snomedct/52845002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027697
property_value: exactMatch NCIT:C26833

[Term]
id: MONDO:0001167
name: spastic diplegia
alt_id: MONDO:0022698
def: "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." [NCIT:C34781]
subset: gard_rare
synonym: "cerebral palsy spastic diplegic" RELATED [GARD:0009637]
synonym: "cerebral spastic infantile paralysis" EXACT [CSP2005:0723-4729, DOID:10965]
synonym: "diplegic infantile cerebral palsy" EXACT [DOID:10965, ICD9CM_2006:343.0]
synonym: "infantile diplegic cerebral palsy" EXACT [DOID:10965]
synonym: "infantile spastic cerebral palsy" EXACT [DOID:10965]
synonym: "Little disease" EXACT []
synonym: "Little's disease" EXACT [DOID:10965, NCIT:C34781]
xref: DOID:10965 {source="MONDO:equivalentTo"}
xref: GARD:0009637 {source="MONDO:equivalentTo"}
xref: ICD10:G80.1 {source="DOID:10965"}
xref: ICD9:343.0 {source="DOID:10965"}
xref: MESH:C537945 {source="MONDO:equivalentTo"}
xref: NCIT:C34781 {source="DOID:10965", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:281411007 {source="DOID:10965", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.50"}
xref: UMLS:C0270804 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000396 {source="DOID:10965", source="MONDOLEX:0001167", source="https://en.wikipedia.org/wiki/Spastic_cerebral_palsy"} ! spastic cerebral palsy
property_value: closeMatch http://identifiers.org/snomedct/1178005
property_value: closeMatch http://identifiers.org/snomedct/192947000
property_value: closeMatch http://identifiers.org/snomedct/275469001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023882
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154695
property_value: exactMatch DOID:10965
property_value: exactMatch http://identifiers.org/mesh/C537945
property_value: exactMatch http://identifiers.org/snomedct/281411007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270804
property_value: exactMatch NCIT:C34781
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy xsd:anyURI {source="GARD:0009637"}

[Term]
id: MONDO:0001168
name: spastic hemiplegia
def: "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." [NCIT:C116905]
synonym: "congenital hemiplegia" RELATED [DOID:10967, MTHICD9_2006:343.1]
synonym: "hemiplegic cerebral palsy" EXACT [DOID:10967]
synonym: "hemiplegic infantile cerebral palsy" EXACT [DOID:10967, ICD9CM_2006:343.1]
synonym: "spastic hemiplegic cerebral palsy" EXACT [DOID:10967]
xref: COHD:375528 {source="MONDO:equivalentTo"}
xref: DOID:10967 {source="MONDO:equivalentTo"}
xref: ICD9:342.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:343.1 {source="DOID:10967"}
xref: NCIT:C116905 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:79633009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0270805 {source="MONDO:equivalentTo", source="DOID:10967"}
is_a: MONDO:0000396 {source="DOID:10967", source="https://en.wikipedia.org/wiki/Spastic_cerebral_palsy"} ! spastic cerebral palsy
relationship: disease_has_feature MONDO:0001170 ! hemiplegia
property_value: closeMatch http://identifiers.org/snomedct/258714003
property_value: closeMatch http://identifiers.org/snomedct/43486001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154694
property_value: exactMatch DOID:10967
property_value: exactMatch http://identifiers.org/snomedct/79633009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270805
property_value: exactMatch NCIT:C116905

[Term]
id: MONDO:0001169
name: spastic monoplegia
def: "A spastic cerebral palsy that affects only one limb." [DOID:10968, http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]
synonym: "infantile monoplegic cerebral palsy" EXACT [DOID:10968]
synonym: "monoplegic infantile cerebral palsy" EXACT [DOID:10968, ICD9CM_2006:343.3]
synonym: "spastic monoplegic cerebral palsy" EXACT [DOID:10968]
xref: DOID:10968 {source="MONDO:equivalentTo"}
xref: ICD9:343.3 {source="DOID:10968"}
xref: UMLS:C0154698 {source="DOID:10968", source="MONDO:equivalentTo"}
is_a: MONDO:0000396 {source="DOID:10968", source="https://en.wikipedia.org/wiki/Spastic_cerebral_palsy"} ! spastic cerebral palsy
property_value: exactMatch DOID:10968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154698

[Term]
id: MONDO:0001170
name: hemiplegia
def: "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." [MESH:D006429]
subset: gard_rare {source="GARD:0006583"}
synonym: "infantile hemiplegia" EXACT [DOID:10969]
synonym: "postnatal infantile hemiplegia" EXACT [DOID:10969, MTHICD9_2006:343.4]
xref: COHD:374022 {source="MONDO:equivalentTo"}
xref: DOID:10969 {source="MONDO:equivalentTo"}
xref: GARD:0006583 {source="MONDO:equivalentTo"}
xref: ICD9:343.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:10969"}
xref: MESH:D006429 {source="MONDO:equivalentTo", source="DOID:10969"}
xref: SCTID:1593000 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo", source="DOID:10969"}
is_a: MONDO:0006496 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:10969", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155024003
property_value: closeMatch http://identifiers.org/snomedct/155025002
property_value: closeMatch http://identifiers.org/snomedct/155026001
property_value: closeMatch http://identifiers.org/snomedct/192952005
property_value: closeMatch http://identifiers.org/snomedct/192955007
property_value: closeMatch http://identifiers.org/snomedct/267696006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018991
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392550
property_value: exactMatch DOID:10969
property_value: exactMatch http://identifiers.org/mesh/D006429
property_value: exactMatch http://identifiers.org/snomedct/1593000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6583/hemiplegia xsd:anyURI {source="GARD:0006583"}

[Term]
id: MONDO:0001171
name: acute salpingo-oophoritis
def: "Acute form of salpingo-oophoritis." [MONDO:patterns/acute]
synonym: "acute salpingitis and oophoritis" EXACT [DOID:10971, ICD9CM_2006:614.0]
synonym: "salpingo-oophoritis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:196468 {source="MONDO:equivalentTo"}
xref: DOID:10971 {source="MONDO:equivalentTo"}
xref: ICD10:N70.0 {source="DOID:10971"}
xref: ICD10:N70.03 {source="DOID:10971"}
xref: ICD9:614.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10971"}
xref: SCTID:266581008 {source="MONDO:equivalentTo", source="DOID:10971", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156327 {source="MONDO:equivalentTo", source="DOID:10971"}
is_a: MONDO:0001172 {source="DOID:10971", source="MONDO:Redundant", source="MONDOLEX:0001171", source="linkedlifedata"} ! salpingo-oophoritis
is_a: MONDO:0001173 {source="MONDO:Redundant", source="MONDOLEX:0001171", source="OWLReasoner:2017", source="linkedlifedata"} ! acute salpingitis
property_value: closeMatch http://identifiers.org/snomedct/155969007
property_value: closeMatch http://identifiers.org/snomedct/198132003
property_value: closeMatch http://identifiers.org/snomedct/198134002
property_value: closeMatch http://identifiers.org/snomedct/198139007
property_value: exactMatch DOID:10971
property_value: exactMatch http://identifiers.org/snomedct/266581008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156327

[Term]
id: MONDO:0001172
name: salpingo-oophoritis
synonym: "salpingitis/oophoritis" EXACT [DOID:10972]
synonym: "Tubo-ovarian inflammatory disease" EXACT [DOID:10972, MTHICD9_2006:614.2]
xref: COHD:197602 {source="MONDO:equivalentTo"}
xref: DOID:10972 {source="MONDO:equivalentTo"}
xref: ICD10:N70 {source="DOID:10972"}
xref: ICD10:N70.9 {source="DOID:10972"}
xref: ICD10:N70.93 {source="DOID:10972"}
xref: ICD9:614.2 {source="DOID:10972", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:46536000 {source="DOID:10972", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0036133 {source="DOID:10972", source="MONDO:equivalentTo"}
is_a: MONDO:0003619 {source="DOID:10972", source="MONDO:Redundant", source="linkedlifedata"} ! salpingitis
is_a: MONDO:0006877 {source="DOID:10972", source="MONDO:Redundant", source="linkedlifedata"} ! oophoritis
property_value: closeMatch http://identifiers.org/snomedct/155971007
property_value: closeMatch http://identifiers.org/snomedct/198147007
property_value: closeMatch http://identifiers.org/snomedct/198150005
property_value: closeMatch http://identifiers.org/snomedct/198153007
property_value: closeMatch http://identifiers.org/snomedct/266650009
property_value: exactMatch DOID:10972
property_value: exactMatch http://identifiers.org/snomedct/46536000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036133

[Term]
id: MONDO:0001173
name: acute salpingitis
def: "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." [NCIT:P378]
synonym: "salpingitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10973 {source="MONDO:equivalentTo"}
xref: ICD10:N70.01 {source="DOID:10973", source="MONDO:equivalentTo"}
xref: NCIT:C40120 {source="DOID:10973", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:8912009 {source="DOID:10973", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0269038 {source="DOID:10973", source="MONDO:equivalentTo", source="NCIT:C40120"}
is_a: MONDO:0003619 {source="DOID:10973", source="MONDO:Redundant", source="NCIT:C40120", source="linkedlifedata"} ! salpingitis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:10973
property_value: exactMatch http://identifiers.org/snomedct/8912009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269038
property_value: exactMatch NCIT:C40120

[Term]
id: MONDO:0001174
name: conjunctival vascular disease
def: "A disorder of the vasculature of the cornea." [NCIT:P378]
synonym: "conjunctival vascular abnormality" EXACT [DOID:10989]
synonym: "conjunctival vascular disorder" EXACT [NCIT:C35116]
synonym: "conjunctival vasculature disease" EXACT [MONDO:patterns/location]
synonym: "conjunctival vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of conjunctival vasculature" EXACT []
synonym: "disorder of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disorder of conjunctival vasculature" RELATED [MONDO:patterns/location_top]
synonym: "vascular abnormalities of conjunctiva" EXACT [DOID:10989, ICD9CM_2006:372.74]
xref: DOID:10989 {source="MONDO:equivalentTo"}
xref: ICD10:H11.41 {source="DOID:10989"}
xref: ICD9:372.74 {source="MONDO:equivalentTo", source="DOID:10989", source="i2s"}
xref: NCIT:C35116 {source="MONDO:equivalentTo", source="DOID:10989"}
xref: SCTID:74100001 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo", source="DOID:10989"}
is_a: MONDO:0005552 ! ocular vascular disease
is_a: MONDO:0006170 {source="DOID:10989", source="MONDO:Redundant", source="linkedlifedata"} ! conjunctival disorder
property_value: closeMatch http://identifiers.org/snomedct/193900004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042370
property_value: exactMatch DOID:10989
property_value: exactMatch http://identifiers.org/snomedct/74100001
property_value: exactMatch NCIT:C35116

[Term]
id: MONDO:0001175
name: immature cataract
def: "A cataract disease in which the cataract contains some transparent protein" [https://en.wikipedia.org/wiki/Cataract]
synonym: "incipient cataract" EXACT [DOID:10997]
synonym: "incipient senile cataract" EXACT [DOID:10997, ICD9CM_2006:366.12]
synonym: "water clefts" EXACT [DOID:10997, MTHICD9_2006:366.12]
xref: COHD:40482507 {source="MONDO:equivalentTo"}
xref: DOID:10997 {source="MONDO:equivalentTo"}
xref: ICD10:H25.09 {source="DOID:10997"}
xref: SCTID:446474007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.83/1.30"}
xref: UMLS:C0271163 {source="DOID:10997", source="MONDO:equivalentTo"}
xref: UMLS:C2939157 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2960113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="DOID:10997/inferred", source="MONDO:cjm", source="linkedlifedata"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:10997"} ! senile cataract
property_value: closeMatch http://identifiers.org/snomedct/193584004
property_value: closeMatch http://identifiers.org/snomedct/52421005
property_value: exactMatch DOID:10997
property_value: exactMatch http://identifiers.org/snomedct/446474007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271163
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939157
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960113

[Term]
id: MONDO:0001176
name: lens disease
def: "A disease involving the lens of camera-type eye." [MONDO:DesignPattern]
comment: Includes cataracts, lens subluxation and aphakia
synonym: "disease of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lens of camera-type eye" EXACT []
synonym: "disorder of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lens of camera-type eye" RELATED [MONDO:patterns/location_top]
synonym: "lens disorder" EXACT [NCIT:C26812]
synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location]
synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:110 {source="MONDO:equivalentTo"}
xref: ICD10:H25-H28 {source="DOID:110"}
xref: ICD10:H27.9 {source="DOID:110"}
xref: ICD9:379.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007905 {source="MONDO:equivalentTo", source="DOID:110", source="MONDO:ontobio"}
xref: NCIT:C26812 {source="MONDO:equivalentTo", source="DOID:110"}
xref: SCTID:10810001 {source="MONDO:equivalentTo", source="DOID:110"}
xref: UMLS:C0023308 {source="MONDO:equivalentTo", source="DOID:110", source="NCIT:C26812"}
is_a: MONDO:0005328 {source="DOID:110", source="MESH:D007905", source="MONDO:Redundant", source="NCIT:C26812", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/194158009
property_value: closeMatch http://identifiers.org/snomedct/194613002
property_value: exactMatch DOID:110
property_value: exactMatch http://identifiers.org/mesh/D007905
property_value: exactMatch http://identifiers.org/snomedct/10810001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023308
property_value: exactMatch NCIT:C26812

[Term]
id: MONDO:0001177
name: anorectal stricture
synonym: "stenosis of rectum and anus" EXACT [DOID:11014, ICD9CM_2006:569.2]
xref: COHD:200773 {source="MONDO:equivalentTo"}
xref: DOID:11014 {source="MONDO:equivalentTo"}
xref: ICD10:K62.4 {source="DOID:11014"}
xref: ICD9:569.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11014"}
xref: SCTID:197216007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:11014"}
is_a: MONDO:0002519 {source="DOID:11014", source="linkedlifedata"} ! anus disease
property_value: closeMatch http://identifiers.org/snomedct/155803007
property_value: closeMatch http://identifiers.org/snomedct/197218008
property_value: closeMatch http://identifiers.org/snomedct/68627009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156183
property_value: exactMatch DOID:11014
property_value: exactMatch http://identifiers.org/snomedct/197216007

[Term]
id: MONDO:0001178
name: pseudopterygium
xref: DOID:11028 {source="MONDO:equivalentTo"}
xref: ICD9:372.52 {source="DOID:11028", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:66139007 {source="DOID:11028", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155161 {source="DOID:11028", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:11028", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
is_a: MONDO:0000949 {source="DOID:11028"} ! conjunctival degeneration
property_value: exactMatch DOID:11028
property_value: exactMatch http://identifiers.org/snomedct/66139007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155161

[Term]
id: MONDO:0001179
name: pinguecula
def: "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." [MESH:D059407]
xref: COHD:376124 {source="MONDO:equivalentTo"}
xref: DOID:11029 {source="MONDO:equivalentTo"}
xref: EFO:1001824 {source="MONDO:equivalentTo"}
xref: ICD10:H11.15 {source="DOID:11029"}
xref: ICD9:372.51 {source="DOID:11029", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D059407 {source="DOID:11029", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:87614000 {source="DOID:11029", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0152255 {source="DOID:11029", source="MONDO:equivalentTo"}
is_a: MONDO:0000949 {source="DOID:11029", source="linkedlifedata"} ! conjunctival degeneration
property_value: closeMatch http://identifiers.org/snomedct/155169006
property_value: closeMatch http://identifiers.org/snomedct/267735001
property_value: exactMatch DOID:11029
property_value: exactMatch http://identifiers.org/mesh/D059407
property_value: exactMatch http://identifiers.org/snomedct/87614000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152255

[Term]
id: MONDO:0001180
name: bullous keratopathy
def: "Keratopathy that is characterized by the presence of epithelial bullae." [NCIT:P378]
xref: COHD:375815 {source="MONDO:equivalentTo"}
xref: DOID:11031 {source="MONDO:equivalentTo"}
xref: ICD10:H18.1 {source="MONDO:equivalentTo", source="DOID:11031"}
xref: ICD9:371.23 {source="MONDO:equivalentTo", source="DOID:11031", source="i2s"}
xref: NCIT:C26970 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11031"}
xref: SCTID:57207003 {source="MONDO:equivalentTo", source="DOID:11031", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155111 {source="NCIT:C26970", source="MONDO:equivalentTo", source="DOID:11031"}
is_a: MONDO:0002261 {source="NCIT:C26970"} ! keratopathy
is_a: MONDO:0006712 {source="DOID:11031", source="linkedlifedata"} ! corneal edema
property_value: closeMatch http://identifiers.org/snomedct/193815002
property_value: exactMatch DOID:11031
property_value: exactMatch http://identifiers.org/snomedct/57207003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155111
property_value: exactMatch NCIT:C26970

[Term]
id: MONDO:0001181
name: secondary corneal edema
xref: COHD:380720 {source="MONDO:equivalentTo"}
xref: DOID:11032 {source="MONDO:equivalentTo"}
xref: ICD10:H18.23 {source="DOID:11032"}
xref: ICD9:371.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:11032"}
xref: SCTID:27536004 {source="MONDO:equivalentTo", source="DOID:11032", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155110 {source="MONDO:equivalentTo", source="DOID:11032"}
is_a: MONDO:0006712 {source="DOID:11032", source="linkedlifedata"} ! corneal edema
property_value: closeMatch http://identifiers.org/snomedct/193814003
property_value: exactMatch DOID:11032
property_value: exactMatch http://identifiers.org/snomedct/27536004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155110

[Term]
id: MONDO:0001182
name: idiopathic corneal edema
xref: COHD:377875 {source="MONDO:equivalentTo"}
xref: DOID:11033 {source="MONDO:equivalentTo"}
xref: ICD10:H18.22 {source="DOID:11033"}
xref: ICD9:371.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:11033"}
xref: SCTID:1794009 {source="MONDO:equivalentTo", source="DOID:11033", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155109 {source="MONDO:equivalentTo", source="DOID:11033"}
is_a: MONDO:0006712 {source="DOID:11033", source="linkedlifedata"} ! corneal edema
property_value: closeMatch http://identifiers.org/snomedct/193813009
property_value: exactMatch DOID:11033
property_value: exactMatch http://identifiers.org/snomedct/1794009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155109

[Term]
id: MONDO:0001183
name: contact lens corneal edema
xref: DOID:11034 {source="MONDO:equivalentTo"}
xref: ICD9:371.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:11034"}
xref: SCTID:49362009 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo", source="DOID:11034"}
xref: UMLS:C0474442 {source="MONDO:equivalentTo", source="DOID:11034"}
is_a: MONDO:0006712 {source="DOID:11034", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal edema
property_value: closeMatch http://identifiers.org/snomedct/193816001
property_value: exactMatch DOID:11034
property_value: exactMatch http://identifiers.org/snomedct/49362009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474442

[Term]
id: MONDO:0001184
name: chronic rapidly progressive glomerulonephritis
def: "Chronic form of rapidly progressive glomerulonephritis." [MONDO:patterns/chronic]
synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [DOID:11036, ICD9CM_2006:582.4]
synonym: "rapidly progressive glomerulonephritis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:442076 {source="MONDO:equivalentTo"}
xref: DOID:11036 {source="MONDO:equivalentTo"}
xref: ICD9:582.4 {source="DOID:11036"}
xref: SCTID:197614002 {source="MONDO:equivalentTo", source="DOID:11036", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0341694 {source="MONDO:equivalentTo", source="DOID:11036"}
is_a: MONDO:0005300 ! chronic kidney disease
is_a: MONDO:0017236 ! rapidly progressive glomerulonephritis
property_value: exactMatch DOID:11036
property_value: exactMatch http://identifiers.org/snomedct/197614002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341694

[Term]
id: MONDO:0001185
name: dissociative amnesia
def: "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." [NCIT:P378]
synonym: "psychogenic amnesia" EXACT [CSP2005:2483-7018, DOID:11037]
xref: COHD:444259 {source="MONDO:equivalentTo"}
xref: DOID:11037 {source="MONDO:equivalentTo"}
xref: ICD10:F44.0 {source="MONDO:equivalentTo", source="DOID:11037"}
xref: ICD9:300.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:11037"}
xref: NCIT:C94328 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11037"}
xref: SCTID:84209002 {source="MONDO:equivalentTo", source="DOID:11037", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001160 {source="DOID:11037", source="MONDO:Redundant", source="NCIT:C94328", source="OWLReasoner:2017"} ! dissociative disorder
property_value: closeMatch http://identifiers.org/mesh/D000647
property_value: closeMatch http://identifiers.org/snomedct/191716000
property_value: closeMatch http://identifiers.org/snomedct/192420000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236795
property_value: exactMatch DOID:11037
property_value: exactMatch http://identifiers.org/snomedct/84209002
property_value: exactMatch NCIT:C94328

[Term]
id: MONDO:0001186
name: depersonalization disorder
def: "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." [NCIT:P378]
subset: gard_rare {source="GARD:0006260"}
synonym: "neurotic derealization" EXACT [DOID:11038, MTHICD9_2006:300.6]
xref: COHD:437244 {source="MONDO:equivalentTo"}
xref: DOID:11038 {source="MONDO:equivalentTo"}
xref: GARD:0006260 {source="MONDO:equivalentTo"}
xref: ICD9:300.6 {source="DOID:11038", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C94331 {source="DOID:11038", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:70764005 {source="DOID:11038", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0001160 {source="DOID:11038", source="NCIT:C94331"} ! dissociative disorder
property_value: closeMatch http://identifiers.org/mesh/D003861
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0683416
property_value: exactMatch DOID:11038
property_value: exactMatch http://identifiers.org/snomedct/70764005
property_value: exactMatch NCIT:C94331
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder xsd:anyURI {source="GARD:0006260"}

[Term]
id: MONDO:0001187
name: urinary bladder cancer
def: "A primary or metastatic malignant neoplasm involving the bladder." [NCIT:C9334]
synonym: "bladder cancer" EXACT EXCLUDE [DOID:11054]
synonym: "cancer of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant bladder neoplasm" EXACT [NCIT:C9334]
synonym: "malignant bladder tumor" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of the bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of the urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of urinary bladder" EXACT [MONDO:patterns/cancer, NCIT:C9334]
synonym: "malignant neoplasm, bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm, urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of the bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of the urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor, urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant urinary bladder neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9334]
synonym: "malignant urinary bladder tumor" EXACT [NCIT:C9334]
synonym: "tumor of the bladder" BROAD [DOID:11054, NCIT:C2901]
synonym: "urinary bladder cancer" EXACT [MONDO:patterns/location]
synonym: "urinary bladder malignant neoplasm" EXACT [NCIT:C9334]
synonym: "urinary bladder malignant tumor" EXACT [NCIT:C9334]
xref: DOID:11054 {source="MONDO:equivalentTo"}
xref: ICD10:C67 {source="DOID:11054"}
xref: ICD10:C67.9 {source="DOID:11054"}
xref: ICD9:188 {source="DOID:11054"}
xref: ICD9:188.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:188.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11054"}
xref: KEGG:05219 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: NCIT:C9334 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: OMIM:109800 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: SCTID:399326009 {source="MONDO:kboom-pr-0.91/0.76/0.83", source="MONDO:equivalentTo", source="DOID:11054"}
xref: UMLS:C0005684 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:11054"}
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C9334", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary bladder neoplasm
is_a: MONDO:0006295 {source="DOID:11054", source="MONDO:Redundant", source="NCIT:C9334"} ! malignant urinary system neoplasm
property_value: closeMatch http://identifiers.org/mesh/D001749
property_value: closeMatch http://identifiers.org/snomedct/154540000
property_value: closeMatch http://identifiers.org/snomedct/188248005
property_value: closeMatch http://identifiers.org/snomedct/269607003
property_value: closeMatch http://identifiers.org/snomedct/363455001
property_value: closeMatch http://identifiers.org/snomedct/93689003
property_value: exactMatch DOID:11054
property_value: exactMatch http://identifiers.org/omim/109800
property_value: exactMatch http://identifiers.org/snomedct/399326009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005684
property_value: exactMatch NCIT:C9334

[Term]
id: MONDO:0001188
name: esophagus lymphoma
def: "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:P378]
synonym: "esophageal lymphoma" EXACT [NCIT:C5687]
synonym: "esophagus lymphoma" EXACT [MONDO:patterns/location, NCIT:C5687]
synonym: "lymphoma of esophagus" EXACT [DOID:1106, NCIT:C5687]
synonym: "lymphoma of the esophagus" EXACT [NCIT:C5687]
synonym: "primary esophageal lymphoma" EXACT [NCIT:C5687]
xref: DOID:1106 {source="MONDO:equivalentTo"}
xref: NCIT:C5687 {source="MONDO:equivalentTo", source="DOID:1106", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333459 {source="MONDO:equivalentTo", source="DOID:1106", source="NCIT:C5687"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5687"} ! gastrointestinal lymphoma
is_a: MONDO:0007576 {source="DOID:1106", source="MONDO:Redundant", source="NCIT:C5687"} ! esophageal cancer
property_value: exactMatch DOID:1106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333459
property_value: exactMatch NCIT:C5687

[Term]
id: MONDO:0001189
name: obsolete esophageal carcinoma
is_obsolete: true
replaced_by: MONDO:0019086

[Term]
id: MONDO:0001190
name: Brucella suis brucellosis
def: "An disease or disorder caused by infection with Brucella suis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Brucella suis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Brucella suis disease or disorder" EXACT []
synonym: "Brucella suis infectious disease" EXACT []
xref: DOID:11076 {source="MONDO:equivalentTo"}
is_a: MONDO:0005683 {source="DOID:11076"} ! brucellosis
property_value: exactMatch DOID:11076

[Term]
id: MONDO:0001191
name: hirudiniasis
def: "An disease or disorder caused by infection with Hirudinea." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hirudinea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hirudinea disease or disorder" EXACT []
synonym: "Hirudinea infectious disease" EXACT []
synonym: "leeches" EXACT [DOID:11079, MTHICD9_2006:134.2]
xref: DOID:11079 {source="MONDO:equivalentTo"}
xref: ICD10:B88.3 {source="MONDO:relatedTo", source="DOID:11079"}
xref: ICD9:134.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11079"}
xref: SCTID:64351000 {source="MONDO:equivalentTo", source="DOID:11079"}
xref: UMLS:C0019575 {source="MONDO:equivalentTo", source="DOID:11079"}
is_a: MONDO:0005550 ! infectious disease
relationship: excluded_subClassOf MONDO:0002875 {source="DOID:11079"} ! parasitic ectoparasitic infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154423006
property_value: closeMatch http://identifiers.org/snomedct/266225001
property_value: exactMatch DOID:11079
property_value: exactMatch http://identifiers.org/snomedct/64351000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019575

[Term]
id: MONDO:0001192
name: esophageal melanoma
def: "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" [NCIT:C5707]
synonym: "esophageal melanoma" EXACT [NCIT:C5707]
synonym: "esophagus melanoma" EXACT []
synonym: "esophagus melanoma" RELATED [DOID:1108]
synonym: "esophagus melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "melanoma (disease) of esophagus" EXACT []
synonym: "melanoma of esophagus" EXACT [DOID:1108, NCIT:C5707]
synonym: "melanoma of the esophagus" EXACT [NCIT:C5707]
synonym: "mucosal melanoma of the esophagus" RELATED [ONCOTREE:ESMM]
xref: DOID:1108 {source="MONDO:equivalentTo"}
xref: NCIT:C5707 {source="MONDO:equivalentTo", source="DOID:1108", source="MONDO:kboom-pr-1.00/0.91/29.40"}
xref: ONCOTREE:ESMM {source="MONDO:equivalentTo"}
xref: UMLS:C1333460 {source="NCIT:C5707", source="MONDO:equivalentTo", source="DOID:1108"}
is_a: MONDO:0003649 ! esophageal neuroendocrine tumor
is_a: MONDO:0007576 ! esophageal cancer
is_a: MONDO:0045070 ! digestive system melanoma
property_value: exactMatch DOID:1108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333460
property_value: exactMatch NCIT:C5707

[Term]
id: MONDO:0001193
name: obsolete chorioretinal scar
xref: COHD:433196 {source="MONDO:obsoleteEquivalent"}
xref: DOID:11086 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:H31.0 {source="DOID:11086"}
xref: ICD10:H31.00 {source="DOID:11086"}
xref: ICD9:363.3 {source="DOID:11086"}
xref: ICD9:363.30 {source="DOID:11086"}
xref: SCTID:53854005 {source="MONDO:obsoleteEquivalent", source="DOID:11086"}
relationship: excluded_subClassOf MONDO:0005283 {source="DOID:11086"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/193455005
property_value: closeMatch http://identifiers.org/snomedct/193460009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008512
property_value: exactMatch DOID:11086
property_value: exactMatch http://identifiers.org/snomedct/53854005
is_obsolete: true
replaced_by: HP:0007777

[Term]
id: MONDO:0001194
name: obsolete rickettsialpox
is_obsolete: true
replaced_by: MONDO:0019360

[Term]
id: MONDO:0001195
name: spotted fever
def: "a type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." [https://en.wikipedia.org/wiki/Spotted_fever]
subset: gard_rare {source="GARD:0004998"}
subset: ordo_group_of_disorders {source="Orphanet:102022"}
synonym: "fever, spotted" RELATED [MSH:D000073605]
synonym: "fevers, spotted" RELATED [MSH:D000073605]
synonym: "spotted fever" EXACT [MSH:D000073605]
synonym: "spotted fever group rickettsial disease" EXACT [DOID:11104]
synonym: "spotted fever Group Rickettsioses" RELATED [MSH:D000073605]
synonym: "spotted fever Group rickettsiosis" RELATED [MSH:D000073605]
synonym: "spotted fever rickettsiae disease" EXACT [Orphanet:102022]
synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155]
synonym: "spotted fevers" RELATED [MSH:D000073605]
xref: DOID:11104 {source="MONDO:equivalentTo"}
xref: GARD:0004998 {source="MONDO:equivalentTo"}
xref: ICD10:A77 {source="DOID:11104", source="MONDO:equivalentTo"}
xref: ICD10:A77.0 {source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD10:A77.1 {source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD10:A77.2 {source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD10:A77.3 {source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD10:A77.8 {source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD10:A77.9 {source="DOID:11104", source="ORDO:102022/btnt", source="Orphanet:102022"}
xref: ICD9:082.0 {source="DOID:11104", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:083.8 {source="MONDO:relatedTo", source="i2s"}
xref: MEDGEN:11567 {source="UMLS:C0038041"}
xref: Orphanet:102022 {source="MONDO:equivalentTo"}
xref: SCTID:186771002 {source="DOID:11104", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="UMLS:C0038041"}
xref: UMLS:C0038041 {source="DOID:11104", source="MONDO:equivalentTo"}
is_a: MONDO:0006927 ! Rickettsiaceae infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/medgen/11567
property_value: closeMatch http://identifiers.org/mesh/D000073605
property_value: closeMatch http://identifiers.org/snomedct/186773004
property_value: closeMatch http://identifiers.org/snomedct/187385002
property_value: exactMatch DOID:11104
property_value: exactMatch http://identifiers.org/snomedct/186771002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038041
property_value: exactMatch Orphanet:102022
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4998/spotted-fever xsd:anyURI {source="GARD:0004998"}

[Term]
id: MONDO:0001196
name: psychologic dyspareunia
synonym: "dyspareunia, psychogenic" EXACT [DOID:11120, ICD9CM_2006:302.76]
synonym: "non-organic dyspareunia" EXACT [DOID:11120]
xref: DOID:11120 {source="MONDO:equivalentTo"}
xref: ICD10:F52.6 {source="DOID:11120"}
xref: ICD9:302.76 {source="MONDO:relatedTo", source="i2s", source="DOID:11120"}
xref: MESH:D004414 {source="MONDO:subClassOf", source="MONDO:equivalentTo"}
xref: SCTID:41021005 {source="MONDO:equivalentTo", source="DOID:11120", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000947 {source="DOID:11120", source="MONDO:Redundant", source="linkedlifedata"} ! psychosexual disorder
is_a: MONDO:0021668 ! disorder involving pain
property_value: closeMatch http://identifiers.org/snomedct/154905005
property_value: closeMatch http://identifiers.org/snomedct/192470002
property_value: closeMatch http://identifiers.org/snomedct/268762007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154466
property_value: exactMatch DOID:11120
property_value: exactMatch http://identifiers.org/mesh/D004414
property_value: exactMatch http://identifiers.org/snomedct/41021005

[Term]
id: MONDO:0001197
name: qualitative platelet defect
synonym: "qualitative platelet deficiency" EXACT [DOID:11125]
xref: DOID:11125 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="DOID:11125"}
xref: ICD9:287.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11125"}
xref: SCTID:267532001 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo", source="DOID:11125"}
xref: UMLS:C0235604 {source="MONDO:equivalentTo", source="DOID:11125"}
is_a: MONDO:0002245 {source="DOID:11125", source="linkedlifedata"} ! blood platelet disease
property_value: closeMatch http://identifiers.org/snomedct/191309003
property_value: closeMatch http://identifiers.org/snomedct/191311007
property_value: exactMatch DOID:11125
property_value: exactMatch http://identifiers.org/snomedct/267532001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235604

[Term]
id: MONDO:0001198
name: acquired thrombocytopenia
def: "An instance of thrombocytopenia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired thrombocytopenia" EXACT [MONDO:patterns/acquired]
synonym: "secondary thrombocytopenia" EXACT [DOID:11126, ICD9CM_2006:287.4]
synonym: "secondary thrombocytopenia NOS" RELATED EXCLUDE [DOID:11126]
xref: COHD:440372 {source="MONDO:equivalentTo"}
xref: DOID:11126 {source="MONDO:equivalentTo"}
xref: ICD10:D69.5 {source="DOID:11126"}
xref: ICD9:287.4 {source="DOID:11126", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:74576004 {source="DOID:11126", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0154301 {source="DOID:11126", source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="DOID:11126", source="MONDO:Redundant", source="linkedlifedata"} ! thrombocytopenia
intersection_of: MONDO:0002049 ! thrombocytopenia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://identifiers.org/snomedct/154826009
property_value: closeMatch http://identifiers.org/snomedct/191325008
property_value: closeMatch http://identifiers.org/snomedct/267537007
property_value: exactMatch DOID:11126
property_value: exactMatch http://identifiers.org/snomedct/74576004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154301

[Term]
id: MONDO:0001199
name: dislocation of ear ossicle
def: "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity." [http://www.stanfordchildrens.org/en/service/hearing-center/conditions/ossicular]
synonym: "dislocation of ear ossicles" EXACT []
synonym: "dislocation of ossicles" RELATED []
synonym: "ossicle chain disarticulation" RELATED []
synonym: "ossicle chain discontinuity" RELATED [http://www.stanfordchildrens.org/en/service/hearing-center/conditions/ossicular]
synonym: "ossicle chain disruption" RELATED [https://radiopaedia.org/articles/ossicular-chain-disruption]
synonym: "ossicular dislocation" RELATED []
xref: DOID:11129 {source="MONDO:equivalentTo"}
xref: ICD9:385.23 {source="DOID:11129", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:87040007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002409 {source="DOID:11129", source="linkedlifedata/inferred"} ! auditory system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155487
property_value: exactMatch DOID:11129
property_value: exactMatch http://identifiers.org/snomedct/87040007

[Term]
id: MONDO:0001200
name: secondary hypertension
def: "High blood pressure caused by an underlying medical condition." [NCIT:P378]
xref: COHD:319826 {source="MONDO:equivalentTo"}
xref: DOID:11130 {source="MONDO:equivalentTo"}
xref: EFO:1002034 {source="MONDO:equivalentTo"}
xref: ICD10:I15 {source="MONDO:subClassOf", source="DOID:11130"}
xref: ICD10:I15.9 {source="DOID:11130"}
xref: ICD9:405 {source="DOID:11130"}
xref: ICD9:405.9 {source="DOID:11130"}
xref: ICD9:405.99 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:31992008 {source="MONDO:equivalentTo", source="DOID:11130", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155616 {source="MONDO:equivalentTo", source="DOID:11130"}
is_a: MONDO:0005044 {source="DOID:11130", source="EFO:1002034", source="NCIT:C3657", source="linkedlifedata"} ! hypertensive disorder
property_value: closeMatch http://identifiers.org/snomedct/155300002
property_value: closeMatch http://identifiers.org/snomedct/194789002
property_value: closeMatch http://identifiers.org/snomedct/194792003
property_value: exactMatch DOID:11130
property_value: exactMatch http://identifiers.org/snomedct/31992008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155616
property_value: exactMatch NCIT:C3657

[Term]
id: MONDO:0001202
name: prostatic cyst
synonym: "cyst of prostate" EXACT [DOID:11133, ICD9CM_2006:600.3]
xref: COHD:201617 {source="MONDO:equivalentTo"}
xref: DOID:11133 {source="MONDO:equivalentTo"}
xref: ICD10:N42.83 {source="MONDO:equivalentTo", source="DOID:11133"}
xref: ICD9:599.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:600.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:11133"}
xref: SCTID:409658007 {source="MONDO:equivalentTo", source="DOID:11133", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1443972 {source="MONDO:equivalentTo", source="DOID:11133"}
is_a: MONDO:0003105 {source="DOID:11133/inferred", source="linkedlifedata"} ! prostate disease
property_value: exactMatch DOID:11133
property_value: exactMatch http://identifiers.org/snomedct/409658007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443972

[Term]
id: MONDO:0001203
name: prolapse of lacrimal gland
synonym: "dislocation of lacrimal gland" EXACT [DOID:11134, ICD9CM_2006:375.16]
xref: COHD:379814 {source="MONDO:equivalentTo"}
xref: DOID:11134 {source="MONDO:equivalentTo"}
xref: ICD10:H04.16 {source="DOID:11134"}
xref: ICD9:375.16 {source="MONDO:equivalentTo", source="i2s", source="DOID:11134"}
xref: SCTID:84777002 {source="MONDO:equivalentTo", source="DOID:11134", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155231 {source="MONDO:equivalentTo", source="DOID:11134"}
is_a: MONDO:0024625 ! disorder of lacrimal gland
property_value: exactMatch DOID:11134
property_value: exactMatch http://identifiers.org/snomedct/84777002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155231

[Term]
id: MONDO:0001204
name: esophagus sarcoma
def: "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378]
synonym: "esophageal sarcoma" EXACT [DOID:1114, NCIT:C5341]
synonym: "esophagus sarcoma" EXACT [MONDO:patterns/location, NCIT:C5341]
synonym: "sarcoma of esophagus" EXACT [MONDO:patterns/sarcoma, NCIT:C5341]
synonym: "sarcoma of the esophagus" EXACT [NCIT:C5341]
synonym: "sarcoma, esophagus" EXACT [NCIT:C5341]
xref: DOID:1114 {source="MONDO:equivalentTo"}
xref: NCIT:C5341 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1114"}
xref: UMLS:C1333466 {source="NCIT:C5341", source="MONDO:equivalentTo", source="DOID:1114"}
is_a: MONDO:0007576 {source="DOID:1114", source="MONDO:Redundant", source="NCIT:C5341"} ! esophageal cancer
is_a: MONDO:0018078 {source="NCIT:C5341"} ! soft tissue sarcoma
property_value: exactMatch DOID:1114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333466
property_value: exactMatch NCIT:C5341

[Term]
id: MONDO:0001205
name: hypersecretion glaucoma
xref: DOID:11148 {source="MONDO:equivalentTo"}
xref: ICD10:H40.82 {source="DOID:11148"}
xref: ICD9:365.81 {source="DOID:11148", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:29369005 {source="DOID:11148", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154968 {source="DOID:11148", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:11148", source="linkedlifedata"} ! glaucoma (disease)
property_value: exactMatch DOID:11148
property_value: exactMatch http://identifiers.org/snomedct/29369005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154968

[Term]
id: MONDO:0001206
name: aqueous misdirection
xref: DOID:11149 {source="MONDO:equivalentTo"}
xref: ICD10:H40.83 {source="DOID:11149"}
xref: ICD9:365.83 {source="DOID:11149"}
is_a: MONDO:0005041 {source="DOID:11149"} ! glaucoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1135189
property_value: exactMatch DOID:11149

[Term]
id: MONDO:0001207
name: neonatal respiratory failure
synonym: "respiratory failure of newborn" EXACT [DOID:11161, ICD9CM_2006:770.84]
xref: COHD:4317960 {source="MONDO:equivalentTo"}
xref: DOID:11161 {source="MONDO:equivalentTo"}
xref: ICD10:P28.5 {source="DOID:11161", source="MONDO:equivalentTo"}
xref: ICD9:770.84 {source="DOID:11161"}
xref: SCTID:95619009 {source="DOID:11161", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0521648 {source="DOID:11161", source="MONDO:equivalentTo"}
is_a: MONDO:0001208 {source="DOID:11161"} ! acute respiratory failure
property_value: closeMatch http://identifiers.org/snomedct/206317005
property_value: exactMatch DOID:11161
property_value: exactMatch http://identifiers.org/snomedct/95619009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521648

[Term]
id: MONDO:0001208
name: acute respiratory failure
def: "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." [NCIT:C27043]
synonym: "acute respiratory failure" EXACT [NCIT:C27043]
synonym: "respiratory failure, acute" EXACT [MONDO:patterns/acute]
xref: COHD:319049 {source="MONDO:equivalentTo"}
xref: ICD9:518.81 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27043 {source="MONDO:equivalentTo"}
xref: SCTID:65710008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.61"}
xref: UMLS:C0264490 {source="NCIT:C27043", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0021113 {source="MONDO:Redundant", source="NCIT:C27043"} ! respiratory failure
property_value: exactMatch http://identifiers.org/snomedct/65710008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264490
property_value: exactMatch NCIT:C27043

[Term]
id: MONDO:0001209
name: common wart
def: "A wart caused by human papillomavirus. It can appear anywhere on the skin." [NCIT:C27087]
synonym: "common wart" EXACT [NCIT:C27087]
synonym: "verruca vulgaris" EXACT [NCIT:C27087]
synonym: "viral wart" RELATED []
synonym: "viral Warts" RELATED []
synonym: "viral Warts due to papilloma virus" RELATED []
synonym: "wart" RELATED []
xref: DOID:11165 {source="MONDO:equivalentTo"}
xref: ICD10:B07 {source="DOID:11165"}
xref: ICD10:B07.8 {source="DOID:11165"}
xref: ICD9:078.1 {source="DOID:11165"}
xref: ICD9:078.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014860 {source="MONDO:equivalentTo"}
xref: NCIT:C27087 {source="MONDO:equivalentTo", source="DOID:11165", source="MONDO:kboom-pr-1.00/0.84/13.29"}
xref: SCTID:57019003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98", source="DOID:11165"}
xref: UMLS:C0043037 {source="NCIT:C27087", source="MONDO:equivalentTo", source="DOID:11165"}
is_a: MONDO:0005108 {source="DOID:11165", source="MESH:D014860/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
is_a: MONDO:0024294 ! skin disease caused by infection
is_a: MONDO:0024666 {source="NCIT:C27087"} ! benign epithelial skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/123201004
property_value: closeMatch http://identifiers.org/snomedct/154361008
property_value: closeMatch http://identifiers.org/snomedct/186685000
property_value: closeMatch http://identifiers.org/snomedct/186686004
property_value: closeMatch http://identifiers.org/snomedct/266198004
property_value: closeMatch http://identifiers.org/snomedct/30285000
property_value: closeMatch http://identifiers.org/snomedct/367507002
property_value: closeMatch http://identifiers.org/snomedct/75003008
property_value: closeMatch NCIT:C5028
property_value: exactMatch DOID:11165
property_value: exactMatch http://identifiers.org/mesh/D014860
property_value: exactMatch http://identifiers.org/snomedct/57019003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043037
property_value: exactMatch NCIT:C27087

[Term]
id: MONDO:0001210
name: enophthalmos (disease)
def: "Abnormal recession of the eyeball within the eye socket." [NCIT:P378]
synonym: "enophthalmos" EXACT [MONDO:ambiguous]
xref: COHD:436986 {source="MONDO:equivalentTo"}
xref: DOID:11175 {source="MONDO:equivalentTo"}
xref: HP:0000490 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H05.4 {source="DOID:11175"}
xref: ICD10:H05.40 {source="DOID:11175"}
xref: ICD9:376.5 {source="DOID:11175"}
xref: ICD9:376.50 {source="MONDO:equivalentTo", source="i2s", source="DOID:11175"}
xref: MESH:D015841 {source="MONDO:equivalentTo", source="DOID:11175", source="MONDO:ontobio"}
xref: SCTID:80093006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11175"}
xref: UMLS:C0014306 {source="MONDO:equivalentTo", source="DOID:11175"}
is_a: MONDO:0004751 {source="DOID:11175", source="MESH:D015841"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/155200004
property_value: closeMatch http://identifiers.org/snomedct/194031000
property_value: closeMatch http://identifiers.org/snomedct/267746003
property_value: exactMatch DOID:11175
property_value: exactMatch http://identifiers.org/mesh/D015841
property_value: exactMatch http://identifiers.org/snomedct/80093006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014306
property_value: exactMatch NCIT:C79552

[Term]
id: MONDO:0001211
name: total internal ophthalmoplegia
xref: DOID:11177 {source="MONDO:equivalentTo"}
xref: ICD9:367.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:11177"}
xref: SCTID:86266009 {source="MONDO:equivalentTo", source="DOID:11177", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152197 {source="MONDO:equivalentTo", source="DOID:11177"}
is_a: MONDO:0000926 {source="DOID:11177", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye accommodation disease
is_a: MONDO:0001309 {source="linkedlifedata"} ! oculomotor nerve paralysis
is_a: MONDO:0002285 {source="DOID:11177", source="linkedlifedata"} ! pupil disease
property_value: closeMatch http://identifiers.org/snomedct/193630009
property_value: exactMatch DOID:11177
property_value: exactMatch http://identifiers.org/snomedct/86266009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152197

[Term]
id: MONDO:0001212
name: non-suppurative otitis media
def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [DOID:11180, http://www.ncbi.nlm.nih.gov/sites/entrez/1195971]
synonym: "nonsuppurative otitis media" EXACT [DOID:11180]
xref: COHD:4170137 {source="MONDO:equivalentTo"}
xref: DOID:11180 {source="MONDO:equivalentTo"}
xref: ICD10:H65 {source="DOID:11180"}
xref: ICD10:H65.9 {source="DOID:11180"}
xref: ICD10:H65.90 {source="DOID:11180"}
xref: ICD9:381.4 {source="DOID:11180", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:275481002 {source="DOID:11180", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271446 {source="DOID:11180", source="MONDO:equivalentTo"}
is_a: MONDO:0005441 {source="DOID:11180", source="linkedlifedata"} ! otitis media (disease)
property_value: closeMatch http://identifiers.org/snomedct/194260003
property_value: closeMatch http://identifiers.org/snomedct/194265008
property_value: closeMatch http://identifiers.org/snomedct/267753007
property_value: closeMatch http://identifiers.org/snomedct/45935001
property_value: exactMatch DOID:11180
property_value: exactMatch http://identifiers.org/snomedct/275481002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271446

[Term]
id: MONDO:0001213
name: serous glue ear
def: "Chronic form of serous otitis media." [MONDO:patterns/chronic]
synonym: "chronic secretory otitis media, serous" RELATED []
synonym: "chronic serous otitis media" EXACT []
synonym: "serous otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:381301 {source="MONDO:equivalentTo"}
xref: DOID:11181 {source="MONDO:equivalentTo"}
xref: ICD10:H65.2 {source="DOID:11181"}
xref: ICD10:H65.20 {source="DOID:11181"}
xref: ICD9:381.1 {source="DOID:11181"}
xref: ICD9:381.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:381.19 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:81564005 {source="DOID:11181", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0155421 {source="DOID:11181", source="MONDO:equivalentTo"}
is_a: MONDO:0021203 {source="MONDO:Redundant", source="linkedlifedata"} ! serous otitis media
is_a: MONDO:0021206 {source="MONDO:Redundant", source="linkedlifedata"} ! chronic non-suppurative otitis media
property_value: closeMatch http://identifiers.org/snomedct/155219009
property_value: closeMatch http://identifiers.org/snomedct/194245001
property_value: closeMatch http://identifiers.org/snomedct/194250007
property_value: exactMatch DOID:11181
property_value: exactMatch http://identifiers.org/snomedct/81564005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155421

[Term]
id: MONDO:0001214
name: acute conjunctivitis
def: "Acute inflammation of the conjunctiva." [NCIT:C35195]
synonym: "acute conjunctivitis (disease)" EXACT []
synonym: "conjunctivitis (disease), acute" EXACT [MONDO:patterns/acute]
xref: COHD:376707 {source="MONDO:equivalentTo"}
xref: DOID:11184 {source="MONDO:equivalentTo"}
xref: ICD10:H10.02 {source="DOID:11184"}
xref: ICD9:372.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:372.03 {source="DOID:11184"}
xref: NCIT:C35195 {source="MONDO:kboom-pr-0.97/0.86/2.17", source="MONDO:equivalentTo"}
xref: SCTID:53726008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155141 {source="NCIT:C35195", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003799 {source="DOID:11184", source="MONDO:Redundant", source="NCIT:C35195", source="linkedlifedata"} ! conjunctivitis (disease)
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029668
property_value: exactMatch DOID:11184
property_value: exactMatch http://identifiers.org/snomedct/53726008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155141
property_value: exactMatch NCIT:C35195

[Term]
id: MONDO:0001215
name: allescheriosis
def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses." [DOID:11186, http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html, http://www.ncbi.nlm.nih.gov/sites/entrez/934264]
synonym: "Petriellidosis" EXACT [DOID:11186, MTHICD9_2006:117.6]
xref: DOID:11186 {source="MONDO:equivalentTo"}
xref: ICD10:B48.2 {source="DOID:11186"}
xref: ICD9:117.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11186"}
xref: SCTID:80936003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11186"}
xref: UMLS:C0153285 {source="MONDO:equivalentTo", source="DOID:11186"}
is_a: MONDO:0000308 {source="DOID:11186"} ! primary systemic mycosis
property_value: exactMatch DOID:11186
property_value: exactMatch http://identifiers.org/snomedct/80936003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153285

[Term]
id: MONDO:0001216
name: pulp degeneration
def: "Deterioration of the normal pulp tissue." [NCIT:P378]
xref: COHD:435854 {source="MONDO:equivalentTo"}
xref: DOID:11189 {source="MONDO:equivalentTo"}
xref: ICD10:K04.2 {source="MONDO:equivalentTo", source="DOID:11189"}
xref: ICD9:522.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11189"}
xref: SCTID:22361007 {source="MONDO:equivalentTo", source="DOID:11189", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034100 {source="MONDO:equivalentTo", source="DOID:11189"}
is_a: MONDO:0003394 {source="DOID:11189", source="linkedlifedata"} ! dental pulp disease
property_value: closeMatch http://identifiers.org/snomedct/196335003
property_value: exactMatch DOID:11189
property_value: exactMatch http://identifiers.org/snomedct/22361007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034100
property_value: exactMatch NCIT:C34962

[Term]
id: MONDO:0001217
name: pseudomembranous conjunctivitis
alt_id: MONDO:0022856
def: "Conjunctivitis that is characterized by formation of a pseudomembrane." [NCIT:P378]
subset: gard_rare
synonym: "conjunctivitis with pseudomembrane" EXACT [GARD:0008446]
xref: COHD:381568 {source="MONDO:equivalentTo"}
xref: DOID:11190 {source="MONDO:equivalentTo"}
xref: GARD:0008446 {source="MONDO:equivalentTo"}
xref: ICD10:H10.22 {source="DOID:11190"}
xref: ICD9:372.04 {source="DOID:11190", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35196 {source="DOID:11190", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:72115001 {source="DOID:11190", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155144 {source="DOID:11190", source="NCIT:C35196", source="MONDO:equivalentTo"}
is_a: MONDO:0001214 {source="DOID:11190"} ! acute conjunctivitis
is_a: MONDO:0006668 {source="MONDO:Entailed", source="NCIT:C35196"} ! bacterial conjunctivitis
relationship: disease_has_feature MONDO:0003799 ! conjunctivitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/193862009
property_value: closeMatch http://identifiers.org/snomedct/267643002
property_value: exactMatch DOID:11190
property_value: exactMatch http://identifiers.org/snomedct/72115001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155144
property_value: exactMatch NCIT:C35196
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane xsd:anyURI {source="GARD:0008446"}

[Term]
id: MONDO:0001218
name: acute laryngopharyngitis
def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [DOID:11195, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis]
xref: COHD:23798 {source="MONDO:equivalentTo"}
xref: DOID:11195 {source="MONDO:equivalentTo"}
xref: ICD10:J06.0 {source="MONDO:equivalentTo", source="DOID:11195"}
xref: ICD9:465.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11195"}
xref: SCTID:55355000 {source="MONDO:equivalentTo", source="DOID:11195", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155817 {source="MONDO:equivalentTo", source="DOID:11195"}
is_a: MONDO:0004867 {source="DOID:11195", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
property_value: exactMatch DOID:11195
property_value: exactMatch http://identifiers.org/snomedct/55355000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155817

[Term]
id: MONDO:0001219
name: serous conjunctivitis except viral
synonym: "serous conjunctivitis, except viral" EXACT [DOID:11197]
xref: COHD:375266 {source="MONDO:equivalentTo"}
xref: DOID:11197 {source="MONDO:equivalentTo"}
xref: ICD10:H10.23 {source="DOID:11197"}
xref: ICD9:372.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:11197"}
xref: SCTID:9824006 {source="MONDO:equivalentTo", source="DOID:11197", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155142 {source="MONDO:equivalentTo", source="DOID:11197"}
is_a: MONDO:0001214 {source="DOID:11197"} ! acute conjunctivitis
property_value: exactMatch DOID:11197
property_value: exactMatch http://identifiers.org/snomedct/9824006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155142

[Term]
id: MONDO:0001220
name: hypoparathyroidism
def: "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body." [https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism]
subset: gard_rare {source="GARD:0006733"}
synonym: "hypoparathyroidism, idiopathic (subtype)" RELATED [GARD:0006733]
synonym: "parathyroid, underactivity of" RELATED [GARD:0006733]
xref: COHD:140362 {source="MONDO:equivalentTo"}
xref: DOID:11199 {source="MONDO:equivalentTo"}
xref: GARD:0006733 {source="MONDO:equivalentTo"}
xref: ICD10:E20 {source="MONDO:equivalentTo", source="DOID:11199"}
xref: ICD10:E20.9 {source="DOID:11199"}
xref: ICD9:252.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11199"}
xref: MESH:D007011 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11199"}
xref: NCIT:C78350 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11199"}
xref: SCTID:36976004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11199"}
is_a: MONDO:0001223 {source="DOID:11199", source="MESH:D007011", source="NCIT:C78350/inferred", source="linkedlifedata"} ! parathyroid gland disease
property_value: closeMatch http://identifiers.org/snomedct/154697005
property_value: closeMatch http://identifiers.org/snomedct/190457001
property_value: closeMatch http://identifiers.org/snomedct/267479004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020626
property_value: exactMatch DOID:11199
property_value: exactMatch http://identifiers.org/mesh/D007011
property_value: exactMatch http://identifiers.org/snomedct/36976004
property_value: exactMatch NCIT:C78350
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism xsd:anyURI {source="GARD:0006733"}

[Term]
id: MONDO:0001221
name: esophageal varices
def: "Abnormally dilated veins of the esophagus." [NCIT:C53506]
synonym: "bleeding esophageal varices" NARROW [DOID:112]
synonym: "bleeding oesophageal varices" NARROW [DOID:112]
synonym: "esophageal varices" EXACT [DOID:112, NCIT:C53506]
synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [DOID:112]
synonym: "esophageal varices with bleeding" EXACT EXCLUDE [DOID:112]
synonym: "esophageal varices with bleeding in disease EC" EXACT [DOID:112]
synonym: "esophageal varices without bleeding" EXACT EXCLUDE [DOID:112]
synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112]
synonym: "esophageal varix" EXACT [NCIT:C53506]
synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern]
xref: DOID:112 {source="MONDO:equivalentTo"}
xref: GARD:0006384 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:I85 {source="MONDO:equivalentTo"}
xref: ICD10:I85.01 {source="MONDO:superClassOf", source="DOID:112"}
xref: ICD9:456.0 {source="MONDO:superClassOf", source="DOID:112"}
xref: ICD9:456.2 {source="DOID:112"}
xref: ICD9:456.20 {source="DOID:112"}
xref: MESH:D004932 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C53506 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:28670008 {source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="DOID:112", source="MESH:D004932", source="MONDO:Redundant", source="NCIT:C53506/inferred"} ! esophageal disease
is_a: MONDO:0008638 ! varicose disease
property_value: closeMatch http://identifiers.org/snomedct/195474004
property_value: closeMatch http://identifiers.org/snomedct/195475003
property_value: closeMatch http://identifiers.org/snomedct/195479009
property_value: closeMatch http://identifiers.org/snomedct/195643006
property_value: closeMatch http://identifiers.org/snomedct/236067006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014867
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155789
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155791
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155792
property_value: exactMatch DOID:112
property_value: exactMatch http://identifiers.org/mesh/D004932
property_value: exactMatch http://identifiers.org/snomedct/28670008
property_value: exactMatch NCIT:C53506
property_value: exactMatch NCIT:C78282

[Term]
id: MONDO:0001222
name: congenital T-cell immunodeficiency
def: "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27872]
synonym: "congenital T-cell immunodeficiency" EXACT [NCIT:C27872]
synonym: "T cell deficiency" RELATED [DOID:11200]
xref: DOID:11200 {source="MONDO:equivalentTo"}
xref: NCIT:C27872 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"}
xref: UMLS:C1333147 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"}
is_a: MONDO:0003780 {source="MONDOLEX:0001222", source="NCIT:C27872"} ! T-cell immunodeficiency
is_a: MONDO:0003847 {source="NCIT:C27872"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0003778 {source="DOID:11200"} ! primary immunodeficiency disease
relationship: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch DOID:11200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333147
property_value: exactMatch NCIT:C27872

[Term]
id: MONDO:0001223
name: parathyroid gland disease
def: "A disease involving the parathyroid gland." [MONDO:DesignPattern]
synonym: "disease of parathyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of parathyroid glands" EXACT [DOID:11201]
synonym: "disease or disorder of parathyroid gland" EXACT []
synonym: "disorder of parathyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of parathyroid gland" RELATED [MONDO:patterns/location_top]
synonym: "parathyroid disease" EXACT [MONDO:0005553]
synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844]
synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "parathyroid gland diseases" EXACT [NCIT:C26844]
synonym: "parathyroid gland disorder" EXACT [NCIT:C26844]
synonym: "parathyroid gland disorders" EXACT [NCIT:C26844]
xref: COHD:138713 {source="MONDO:equivalentTo"}
xref: DOID:11201 {source="MONDO:equivalentTo"}
xref: EFO:0005754 {source="MONDO:equivalentTo"}
xref: ICD10:E21.5 {source="DOID:11201"}
xref: ICD9:252 {source="DOID:11201"}
xref: ICD9:252.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:252.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11201"}
xref: MESH:D010279 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11201"}
xref: NCIT:C26844 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11201"}
xref: SCTID:73132005 {source="MONDO:kboom-pr-1.00/0.80/9.27", source="MONDO:equivalentTo", source="DOID:11201"}
xref: UMLS:C0030517 {source="MONDO:equivalentTo", source="NCIT:C26844", source="DOID:11201"}
is_a: MONDO:0005151 {source="DOID:11201", source="MESH:D010279", source="MONDO:Redundant", source="linkedlifedata"} ! endocrine system disease
property_value: closeMatch http://identifiers.org/snomedct/190462000
property_value: closeMatch http://identifiers.org/snomedct/267478007
property_value: exactMatch DOID:11201
property_value: exactMatch http://identifiers.org/mesh/D010279
property_value: exactMatch http://identifiers.org/snomedct/73132005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030517
property_value: exactMatch NCIT:C26844

[Term]
id: MONDO:0001224
name: Angelucci syndrome
def: "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." [NCIT:P378]
synonym: "acute atopic conjunctivitis" EXACT [DOID:11203]
synonym: "Angelucci syndrome" EXACT [DOID:11203]
synonym: "Angelucci's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: COHD:380111 {source="MONDO:equivalentTo"}
xref: DOID:11203 {source="MONDO:equivalentTo"}
xref: ICD10:H10.1 {source="DOID:11203", source="MONDO:equivalentTo"}
xref: ICD9:372.05 {source="DOID:11203", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34353 {source="DOID:11203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:67678004 {source="DOID:11203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C0001309 {source="DOID:11203", source="MONDO:equivalentTo", source="NCIT:C34353"}
is_a: MONDO:0001214 {source="NCIT:C34353", source="linkedlifedata"} ! acute conjunctivitis
is_a: MONDO:0005642 {source="DOID:11203", source="NCIT:C34353", source="linkedlifedata", source="linkedlifedata/inferred"} ! atopic conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193863004
property_value: exactMatch DOID:11203
property_value: exactMatch http://identifiers.org/snomedct/67678004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001309
property_value: exactMatch NCIT:C34353

[Term]
id: MONDO:0001225
name: opioid abuse
def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." [DOID:11206, http://en.wikipedia.org/wiki/Opioid]
xref: DOID:11206 {source="MONDO:equivalentTo"}
xref: ICD10:F11.1 {source="DOID:11206"}
xref: ICD9:305.5 {source="DOID:11206"}
xref: SCTID:5602001 {source="DOID:11206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:11206", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029095
property_value: exactMatch DOID:11206
property_value: exactMatch http://identifiers.org/snomedct/5602001

[Term]
id: MONDO:0001226
name: acute contagious conjunctivitis
def: "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." [NCIT:P378]
synonym: "conjunctivitis infective" EXACT [NCIT:C35704]
synonym: "Contagious opthalmia" EXACT [DOID:11213]
synonym: "pink eye" EXACT EXCLUDE [DOID:11213]
synonym: "pinkeye" EXACT [DOID:11213]
xref: DOID:11213 {source="MONDO:equivalentTo"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35704 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/2.17", source="DOID:11213"}
xref: SCTID:399219006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.66", source="DOID:11213"}
xref: UMLS:C1313983 {source="MONDO:equivalentTo", source="DOID:11213", source="NCIT:C35704"}
is_a: MONDO:0001214 {source="DOID:11213", source="NCIT:C35704"} ! acute conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/155162002
property_value: closeMatch http://identifiers.org/snomedct/17482009
property_value: closeMatch http://identifiers.org/snomedct/240066005
property_value: closeMatch http://identifiers.org/snomedct/267734002
property_value: closeMatch http://identifiers.org/snomedct/399047004
property_value: exactMatch DOID:11213
property_value: exactMatch http://identifiers.org/snomedct/399219006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1313983
property_value: exactMatch NCIT:C35704

[Term]
id: MONDO:0001227
name: chronic tympanitis
def: "Chronic form of tympanitis." [MONDO:patterns/chronic]
synonym: "tympanitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:372652 {source="MONDO:equivalentTo"}
xref: DOID:11217 {source="MONDO:equivalentTo"}
xref: ICD10:H73.1 {source="DOID:11217"}
xref: ICD10:H73.10 {source="DOID:11217"}
xref: ICD9:384.1 {source="DOID:11217", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:89723004 {source="DOID:11217", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.07"}
xref: UMLS:C0395849 {source="DOID:11217", source="MONDO:equivalentTo"}
is_a: MONDO:0021204 ! chronic otitis media
is_a: MONDO:0024616 ! tympanitis
property_value: exactMatch DOID:11217
property_value: exactMatch http://identifiers.org/snomedct/89723004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395849

[Term]
id: MONDO:0001228
name: conjunctival folliculosis
synonym: "acute follicular conjunctivitis" EXACT [DOID:11219, ICD9CM_2006:372.02]
xref: COHD:376412 {source="MONDO:equivalentTo"}
xref: DOID:11219 {source="MONDO:equivalentTo"}
xref: ICD10:H10.01 {source="DOID:11219"}
xref: ICD9:372.02 {source="DOID:11219", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:41308008 {source="DOID:11219", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155143 {source="DOID:11219", source="MONDO:equivalentTo"}
is_a: MONDO:0001214 {source="DOID:11219", source="linkedlifedata"} ! acute conjunctivitis
property_value: exactMatch DOID:11219
property_value: exactMatch http://identifiers.org/snomedct/41308008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155143

[Term]
id: MONDO:0001229
name: small intestine diverticulitis
def: "A diverticulitis that involves the small intestine." [MONDO:patterns/location]
synonym: "diverticulitis of small intestine" EXACT [MONDO:design_pattern]
synonym: "diverticulosis of small intestine with hemorrhage" EXACT [DOID:11223]
synonym: "small intestine diverticulitis" EXACT [MONDO:patterns/location]
xref: COHD:193239 {source="MONDO:equivalentTo"}
xref: DOID:11223 {source="MONDO:equivalentTo"}
xref: ICD9:562.01 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:562.02 {source="DOID:11223"}
xref: SCTID:56165008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0156164 {source="MONDO:equivalentTo", source="DOID:11223"}
is_a: MONDO:0004235 {source="DOID:11223", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! diverticulitis
is_a: MONDO:0024635 ! small intestine disease
property_value: closeMatch http://identifiers.org/snomedct/435061000124102
property_value: exactMatch DOID:11223
property_value: exactMatch http://identifiers.org/snomedct/56165008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156164

[Term]
id: MONDO:0001230
name: acute orbital inflammation
synonym: "acute inflammation of orbit" EXACT [DOID:11230, ICD9CM_2006:376.0]
xref: COHD:433486 {source="MONDO:equivalentTo"}
xref: DOID:11230 {source="MONDO:equivalentTo"}
xref: ICD10:H05.0 {source="DOID:11230"}
xref: ICD10:H05.00 {source="DOID:11230"}
xref: ICD9:376.0 {source="DOID:11230"}
xref: ICD9:376.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:11230"}
xref: SCTID:20551005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.60", source="DOID:11230"}
is_a: MONDO:0004751 {source="DOID:11230"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/194004003
property_value: closeMatch http://identifiers.org/snomedct/194006001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155256
property_value: exactMatch DOID:11230
property_value: exactMatch http://identifiers.org/snomedct/20551005

[Term]
id: MONDO:0001231
name: orbital periostitis
xref: COHD:442634 {source="MONDO:equivalentTo"}
xref: DOID:11231 {source="MONDO:equivalentTo"}
xref: ICD10:H05.03 {source="DOID:11231"}
xref: ICD9:376.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:11231"}
xref: SCTID:65974003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11231"}
xref: UMLS:C0155257 {source="MONDO:equivalentTo", source="DOID:11231"}
is_a: MONDO:0001230 {source="DOID:11231"} ! acute orbital inflammation
is_a: MONDO:0004934 {source="DOID:11231", source="linkedlifedata"} ! periostitis (disease)
property_value: exactMatch DOID:11231
property_value: exactMatch http://identifiers.org/snomedct/65974003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155257

[Term]
id: MONDO:0001232
name: orbital osteomyelitis
synonym: "orbital osteomyelitis" EXACT [DOID:11232]
xref: DOID:11232 {source="MONDO:equivalentTo"}
xref: ICD10:H05.02 {source="DOID:11232"}
xref: ICD9:376.03 {source="MONDO:equivalentTo", source="i2s", source="DOID:11232"}
xref: SCTID:65875003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.66", source="DOID:11232"}
xref: UMLS:C0155258 {source="MONDO:equivalentTo", source="DOID:11232"}
is_a: MONDO:0001230 {source="DOID:11232"} ! acute orbital inflammation
property_value: exactMatch DOID:11232
property_value: exactMatch http://identifiers.org/snomedct/65875003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155258

[Term]
id: MONDO:0001233
name: orbital tenonitis
synonym: "tenonitis" EXACT [DOID:11233]
xref: COHD:141022 {source="MONDO:equivalentTo"}
xref: DOID:11233 {source="MONDO:equivalentTo"}
xref: ICD9:376.04 {source="MONDO:equivalentTo", source="i2s", source="DOID:11233"}
xref: SCTID:8976003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.59", source="DOID:11233"}
xref: UMLS:C0155259 {source="MONDO:equivalentTo", source="DOID:11233"}
is_a: MONDO:0001230 {source="DOID:11233"} ! acute orbital inflammation
property_value: exactMatch DOID:11233
property_value: exactMatch http://identifiers.org/snomedct/8976003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155259

[Term]
id: MONDO:0001234
name: adhesive otitis media
def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." [DOID:11235, https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media]
synonym: "adhesive middle ear disease" EXACT []
synonym: "adhesive otitis media" EXACT []
synonym: "chronic adhesive otitis media" EXACT [DOID:11235]
synonym: "fibrotic adhesive otitis media" RELATED []
xref: COHD:375820 {source="MONDO:equivalentTo"}
xref: DOID:11235 {source="MONDO:equivalentTo"}
xref: ICD10:H74.1 {source="MONDO:equivalentTo", source="DOID:11235"}
xref: ICD9:385.1 {source="DOID:11235"}
xref: ICD9:385.10 {source="MONDO:equivalentTo", source="i2s", source="DOID:11235"}
xref: SCTID:7699004 {source="MONDO:kboom-pr-1.00/0.78/6.97", source="MONDO:equivalentTo", source="DOID:11235"}
xref: UMLS:C0155478 {source="MONDO:equivalentTo", source="DOID:11235"}
is_a: MONDO:0002409 {source="DOID:11235", source="linkedlifedata/inferred"} ! auditory system disease
property_value: closeMatch http://identifiers.org/snomedct/194330006
property_value: closeMatch http://identifiers.org/snomedct/194331005
property_value: exactMatch DOID:11235
property_value: exactMatch http://identifiers.org/snomedct/7699004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155478

[Term]
id: MONDO:0001235
name: appendix cancer
def: "A malignant neoplasm involving the vermiform appendix" [MONDO:DesignPattern]
synonym: "cancer of the appendix" EXACT [DOID:11239, NCIT:C9330]
synonym: "cancer of vermiform appendix" EXACT [MONDO:patterns/cancer]
synonym: "malignant appendix neoplasm" EXACT [NCIT:C9333]
synonym: "malignant appendix tumor" EXACT [NCIT:C9333]
synonym: "malignant neoplasm of appendix" EXACT [NCIT:C9333]
synonym: "malignant neoplasm of appendix vermiformis" EXACT [DOID:11239, ICD9CM_2006:153.5, NCIT:C9333]
synonym: "malignant neoplasm of the appendix" EXACT [NCIT:C9333]
synonym: "malignant neoplasm of vermiform appendix" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of appendix" EXACT [NCIT:C9333]
synonym: "malignant tumor of the appendix" EXACT [DOID:11239, NCIT:C9333]
synonym: "malignant vermiform appendix neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "vermiform appendix cancer" EXACT [MONDO:patterns/location]
xref: COHD:443383 {source="MONDO:equivalentTo"}
xref: DOID:11239 {source="MONDO:equivalentTo"}
xref: ICD10:C18.1 {source="DOID:11239"}
xref: ICD9:153.5 {source="DOID:11239", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9333 {source="DOID:11239", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.74/3.46"}
xref: SCTID:363411007 {source="DOID:11239", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0496779 {source="DOID:11239", source="NCIT:C9333", source="MONDO:equivalentTo"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C9333", source="OWLReasoner:2017", source="linkedlifedata"} ! appendiceal neoplasm
is_a: MONDO:0002033 ! cecum cancer
property_value: closeMatch http://identifiers.org/snomedct/93679002
property_value: exactMatch DOID:11239
property_value: exactMatch http://identifiers.org/snomedct/363411007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496779
property_value: exactMatch NCIT:C9333

[Term]
id: MONDO:0001236
name: appendiceal neoplasm
def: "A benign or malignant neoplasm involving the appendix." [NCIT:P378]
synonym: "appendix neoplasm" EXACT [DOID:11240, NCIT:C4434]
synonym: "appendix tumor" EXACT [NCIT:C4434]
synonym: "neoplasm of appendix" EXACT [NCIT:C4434]
synonym: "neoplasm of the appendix" EXACT [NCIT:C4434]
synonym: "neoplasm of vermiform appendix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of appendix" EXACT [NCIT:C4434]
synonym: "tumor of the appendix" EXACT [NCIT:C4434]
synonym: "tumor of vermiform appendix" EXACT [MONDO:patterns/neoplasm]
synonym: "vermiform appendix neoplasm" EXACT []
synonym: "vermiform appendix neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix tumor" EXACT [MONDO:patterns/neoplasm]
xref: DOID:11240 {source="MONDO:equivalentTo"}
xref: EFO:0003880 {source="MONDO:equivalentTo"}
xref: MESH:D001063 {source="MONDO:equivalentTo", source="DOID:11240"}
xref: NCIT:C4434 {source="MONDO:kboom-pr-0.99/0.84/3.46", source="MONDO:equivalentTo", source="DOID:11240"}
xref: SCTID:126846004 {source="MONDO:equivalentTo", source="DOID:11240", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003614 {source="MONDO:equivalentTo", source="DOID:11240", source="NCIT:C4434"}
is_a: MONDO:0005694 {source="MESH:D001063", source="MONDO:Redundant"} ! cecal neoplasm
is_a: MONDO:0056798 ! disorder of appendix
property_value: exactMatch DOID:11240
property_value: exactMatch http://identifiers.org/mesh/D001063
property_value: exactMatch http://identifiers.org/snomedct/126846004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003614
property_value: exactMatch NCIT:C4434

[Term]
id: MONDO:0001237
name: appendix lymphoma
def: "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." [NCIT:C5513]
synonym: "appendiceal lymphoma" EXACT [DOID:11241, NCIT:C5513]
synonym: "appendix lymphoma" EXACT [NCIT:C5513]
synonym: "lymphoma of appendix" EXACT [NCIT:C5513]
synonym: "lymphoma of the appendix" EXACT [NCIT:C5513]
synonym: "lymphoma of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "primary appendix lymphoma" EXACT [NCIT:C5513]
synonym: "vermiform appendix lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:11241 {source="MONDO:equivalentTo"}
xref: NCIT:C5513 {source="MONDO:equivalentTo", source="DOID:11241", source="exact-label-match"}
xref: UMLS:C1332328 {source="MONDO:equivalentTo", source="DOID:11241", source="NCIT:C5513"}
is_a: MONDO:0001235 {source="DOID:11241", source="MONDO:Redundant", source="NCIT:C5513"} ! appendix cancer
is_a: MONDO:0002034 ! cecum lymphoma
property_value: exactMatch DOID:11241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332328
property_value: exactMatch NCIT:C5513

[Term]
id: MONDO:0001238
name: polycythemia neonatorum
def: "A condition in which the red blood cell level is greater than established reference ranges in a newborn." [NCIT:C27069]
synonym: "neonatal polycythemia" EXACT [NCIT:C27069]
synonym: "plethora of newborn" RELATED [DOID:11242]
synonym: "polycythemia neonatorum" EXACT [NCIT:C27069]
synonym: "polycythemia of the newborn" EXACT [NCIT:C27069]
xref: COHD:439140 {source="MONDO:equivalentTo"}
xref: DOID:11242 {source="MONDO:equivalentTo"}
xref: ICD10:P61.1 {source="MONDO:equivalentTo", source="DOID:11242"}
xref: ICD9:776.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:11242"}
xref: NCIT:C27069 {source="MONDO:equivalentTo", source="DOID:11242"}
xref: SCTID:32984002 {source="MONDO:equivalentTo", source="DOID:11242", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272153 {source="NCIT:C27069", source="MONDO:equivalentTo", source="DOID:11242"}
is_a: MONDO:0005571 {source="DOID:11242", source="NCIT:C27069/inferred"} ! polycythemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/206518001
property_value: closeMatch http://identifiers.org/snomedct/9170001
property_value: exactMatch DOID:11242
property_value: exactMatch http://identifiers.org/snomedct/32984002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272153
property_value: exactMatch NCIT:C27069

[Term]
id: MONDO:0001239
name: anemia of prematurity
def: "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." [NCIT:P378]
synonym: "AOP" EXACT [NCIT:C97167]
xref: COHD:432452 {source="MONDO:equivalentTo"}
xref: DOID:11243 {source="MONDO:equivalentTo"}
xref: ICD10:P61.2 {source="MONDO:equivalentTo", source="DOID:11243"}
xref: ICD9:776.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11243"}
xref: NCIT:C97167 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11243"}
xref: SCTID:47100003 {source="MONDO:equivalentTo", source="DOID:11243", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158996 {source="MONDO:equivalentTo", source="NCIT:C97167", source="DOID:11243"}
is_a: MONDO:0001240 {source="DOID:11243", source="linkedlifedata"} ! neonatal anemia
property_value: exactMatch DOID:11243
property_value: exactMatch http://identifiers.org/snomedct/47100003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158996
property_value: exactMatch NCIT:C97167

[Term]
id: MONDO:0001240
name: neonatal anemia
def: "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." [MESH:D000751]
synonym: "anemia neonatal" EXACT [DOID:11244, MTH:NOCODE]
xref: DOID:11244 {source="MONDO:equivalentTo"}
xref: MESH:D000751 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11244"}
xref: SCTID:234350007 {source="MONDO:equivalentTo", source="DOID:11244", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002891 {source="MONDO:equivalentTo", source="DOID:11244"}
is_a: MONDO:0002280 {source="DOID:11244", source="MESH:D000751", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/111468003
property_value: closeMatch http://identifiers.org/snomedct/276577009
property_value: closeMatch http://identifiers.org/snomedct/33130007
property_value: exactMatch DOID:11244
property_value: exactMatch http://identifiers.org/mesh/D000751
property_value: exactMatch http://identifiers.org/snomedct/234350007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002891

[Term]
id: MONDO:0001241
name: transient neonatal neutropenia
xref: COHD:439149 {source="MONDO:equivalentTo"}
xref: DOID:11245 {source="MONDO:equivalentTo"}
xref: ICD10:P61.5 {source="MONDO:equivalentTo", source="DOID:11245"}
xref: ICD9:776.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:11245"}
xref: SCTID:55444004 {source="MONDO:equivalentTo", source="DOID:11245"}
xref: UMLS:C0158997 {source="MONDO:equivalentTo", source="DOID:11245"}
is_a: MONDO:0001475 {source="DOID:11245", source="linkedlifedata"} ! neutropenia
property_value: closeMatch http://identifiers.org/snomedct/206520003
property_value: exactMatch DOID:11245
property_value: exactMatch http://identifiers.org/snomedct/55444004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158997

[Term]
id: MONDO:0001242
name: disseminated intravascular coagulation in newborn
def: "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." [NCIT:C111856]
synonym: "DIC in newborn" EXACT [DOID:11246]
synonym: "disseminated intravascular coagulation in newborn" EXACT [DOID:11246, ICD9CM_2006:776.2]
synonym: "neonatal disseminated intravascular coagulation" EXACT [NCIT:C111856]
xref: COHD:432443 {source="MONDO:equivalentTo"}
xref: DOID:11246 {source="MONDO:equivalentTo"}
xref: ICD10:P60 {source="DOID:11246"}
xref: ICD9:776.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11246"}
xref: NCIT:C111856 {source="MONDO:equivalentTo", source="DOID:11246", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:34417008 {source="MONDO:equivalentTo", source="DOID:11246", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158992 {source="NCIT:C111856", source="MONDO:equivalentTo", source="DOID:11246"}
is_a: MONDO:0001243 {source="DOID:11246", source="NCIT:C111856", source="linkedlifedata"} ! disseminated intravascular coagulation
property_value: exactMatch DOID:11246
property_value: exactMatch http://identifiers.org/snomedct/34417008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158992
property_value: exactMatch NCIT:C111856

[Term]
id: MONDO:0001243
name: disseminated intravascular coagulation
def: "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." [NCIT:C2992]
synonym: "coagulation (DIC), disseminated intravascular" EXACT [NCIT:C2992]
synonym: "consumptive coagulopathy" EXACT [NCIT:C2992]
synonym: "defibrination syndrome" EXACT [DOID:11247, ICD9CM_2006:286.6]
synonym: "DIC" EXACT [DOID:11247, NCIT:C2992]
synonym: "DIC, disseminated intravascular coagulation" EXACT [NCIT:C2992]
synonym: "diffuse or disseminated intravascular coagulation" EXACT [DOID:11247, MTHICD9_2006:286.6]
synonym: "disseminated intravascular coagulation" EXACT [NCIT:C2992]
synonym: "disseminated intravascular coagulation (DIC)" EXACT [NCIT:C2992]
synonym: "intravascular coagulation (DIC), disseminated" EXACT [NCIT:C2992]
xref: COHD:436093 {source="MONDO:equivalentTo"}
xref: DOID:11247 {source="MONDO:equivalentTo"}
xref: ICD10:D65 {source="DOID:11247"}
xref: ICD9:286.6 {source="DOID:11247", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004211 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2992 {source="DOID:11247", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:67406007 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0012739 {source="DOID:11247", source="MONDO:equivalentTo", source="NCIT:C2992"}
xref: UMLS:C4321305 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002305 {source="DOID:11247", source="MESH:D004211"} ! thrombophilia
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch http://identifiers.org/snomedct/267563002
property_value: exactMatch DOID:11247
property_value: exactMatch http://identifiers.org/mesh/D004211
property_value: exactMatch http://identifiers.org/snomedct/67406007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4321305
property_value: exactMatch NCIT:C2992

[Term]
id: MONDO:0001244
name: vitamin K deficiency hemorrhagic disease
def: "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." [NCIT:C99108]
synonym: "deficiency of vitamin K" EXACT [DOID:11249, ICD9CM_2006:269.0]
synonym: "vitamin K deficiency" EXACT [CSP2005:2116-7764, DOID:11249, NCIT:C99108]
synonym: "vitamin K deficiency coagulation disorder" EXACT [NCIT:C99108]
xref: COHD:435781 {source="MONDO:equivalentTo"}
xref: DOID:11249 {source="MONDO:equivalentTo"}
xref: ICD10:E56.1 {source="DOID:11249", source="MONDO:equivalentTo"}
xref: ICD9:269.0 {source="DOID:11249", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014813 {source="DOID:11249", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99108 {source="DOID:11249", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:52675005 {source="DOID:11249", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0042880 {source="DOID:11249", source="MONDO:equivalentTo", source="NCIT:C99108"}
xref: UMLS:C0272348 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0024298 {source="MESH:D014813", source="NCIT:C99108", source="linkedlifedata"} ! vitamin deficiency disorder
property_value: closeMatch http://identifiers.org/snomedct/124892003
property_value: exactMatch DOID:11249
property_value: exactMatch http://identifiers.org/mesh/D014813
property_value: exactMatch http://identifiers.org/snomedct/52675005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272348
property_value: exactMatch NCIT:C99108

[Term]
id: MONDO:0001245
name: microcytic anemia
def: "Anemia in which the red blood cell volume is decreased." [NCIT:P378]
xref: DOID:11252 {source="MONDO:equivalentTo"}
xref: HP:0001935 {source="MONDO:otherHierarchy"}
xref: NCIT:C35141 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11252"}
xref: SCTID:234349007 {source="MONDO:equivalentTo", source="DOID:11252", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002280 {source="DOID:11252", source="NCIT:C35141", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/154787005
property_value: closeMatch http://identifiers.org/snomedct/267553005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085576
property_value: exactMatch DOID:11252
property_value: exactMatch http://identifiers.org/snomedct/234349007
property_value: exactMatch NCIT:C35141

[Term]
id: MONDO:0001246
name: typhus
def: "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." [https://en.wikipedia.org/wiki/Typhus]
subset: ordo_group_of_disorders {source="Orphanet:102023"}
synonym: "classical typhus" RELATED [DOID:11256]
synonym: "classical typhus (fever)" RELATED [DOID:11256]
synonym: "endemic flea-borne typhus" NARROW [DOID:11256]
synonym: "endemic typhus fever" NARROW [DOID:11256, MTHICD9_2006:081.0]
synonym: "epidemic (louse-borne) typhus" RELATED [DOID:11256]
synonym: "epidemic louse-borne typhus" NARROW [DOID:11256]
synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [DOID:11256]
synonym: "European typhus" RELATED [DOID:11256]
synonym: "exanthematic typhus fever" NARROW [DOID:11256, MTHICD9_2006:080]
synonym: "exanthematous typhus" RELATED [DOID:11256]
synonym: "famine fever" RELATED [DOID:11256]
synonym: "flea typhus" NARROW [DOID:11256]
synonym: "flea-borne rickettsiosis" RELATED [DOID:11256]
synonym: "flea-borne typhus" RELATED [DOID:11256]
synonym: "hospital fever" RELATED [DOID:11256]
synonym: "jail fever" RELATED [DOID:11256]
synonym: "louse-borne [epidemic] typhus" NARROW [DOID:11256, ICD9CM_2006:080]
synonym: "louse-borne rickettsiosis" RELATED [DOID:11256]
synonym: "louse-borne typhus" RELATED [DOID:11256]
synonym: "Mexican typhus" RELATED [DOID:11256]
synonym: "Moscow typhus" RELATED [DOID:11256]
synonym: "murine [endemic] typhus" NARROW [DOID:11256, ICD9CM_2006:081.0]
synonym: "murine typhus" RELATED [DOID:11256]
synonym: "petechial fever" RELATED [DOID:11256]
synonym: "prison fever" RELATED [DOID:11256]
synonym: "rat flea typhus" RELATED [DOID:11256]
synonym: "ship fever" RELATED [DOID:11256]
synonym: "shop typhus" RELATED [DOID:11256]
synonym: "typhus exanthematique" RELATED [DOID:11256]
synonym: "typhus fever" EXACT [DOID:11256]
synonym: "typhus-group rickettsiae disease" EXACT [Orphanet:102023]
synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156]
synonym: "Urban typhus" RELATED [DOID:11256]
xref: DOID:11256 {source="MONDO:equivalentTo"}
xref: GARD:0007833 {source="MONDO:equivalentTo"}
xref: ICD10:A75 {source="DOID:11256"}
xref: ICD10:A75.0 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"}
xref: ICD10:A75.1 {source="Orphanet:102023", source="ORDO:102023/btnt"}
xref: ICD10:A75.2 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"}
xref: ICD10:A75.3 {source="Orphanet:102023", source="ORDO:102023/btnt"}
xref: ICD10:A75.9 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"}
xref: ICD9:080 {source="DOID:11256"}
xref: ICD9:081.0 {source="DOID:11256"}
xref: ICD9:081.9 {source="DOID:11256"}
xref: Orphanet:102023 {source="MONDO:equivalentTo"}
xref: SCTID:240613006 {source="MONDO:equivalentTo"}
xref: UMLS:C0041471 {source="MONDO:equivalentTo", source="DOID:11256"}
xref: UMLS:C0041472 {source="MONDO:equivalentTo", source="DOID:11256", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006927 ! Rickettsiaceae infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:11256"} ! primary bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154375001
property_value: closeMatch http://identifiers.org/snomedct/187383009
property_value: closeMatch http://identifiers.org/snomedct/25668000
property_value: closeMatch http://identifiers.org/snomedct/266205000
property_value: closeMatch http://identifiers.org/snomedct/39111003
property_value: closeMatch http://identifiers.org/snomedct/414263007
property_value: closeMatch http://identifiers.org/snomedct/83838002
property_value: exactMatch DOID:11256
property_value: exactMatch http://identifiers.org/snomedct/240613006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041471
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041472
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343758
property_value: exactMatch Orphanet:102023

[Term]
id: MONDO:0001247
name: social phobia
def: "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." [NCIT:P378]
synonym: "social anxiety disorder" EXACT [NCIT:C34927]
xref: COHD:440690 {source="MONDO:equivalentTo"}
xref: DOID:11257 {source="MONDO:equivalentTo"}
xref: EFO:1001917 {source="MONDO:equivalentTo"}
xref: ICD10:F40.1 {source="DOID:11257"}
xref: ICD10:F40.10 {source="DOID:11257"}
xref: ICD9:300.23 {source="MONDO:equivalentTo", source="i2s", source="DOID:11257"}
xref: NCIT:C34927 {source="MONDO:equivalentTo", source="DOID:11257", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:25501002 {source="MONDO:equivalentTo", source="DOID:11257", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003699 {source="DOID:11257", source="EFO:1001917", source="NCIT:C34927", source="linkedlifedata"} ! phobic disorder
property_value: closeMatch http://identifiers.org/snomedct/191720001
property_value: closeMatch http://identifiers.org/snomedct/192395002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031572
property_value: exactMatch DOID:11257
property_value: exactMatch http://identifiers.org/snomedct/25501002
property_value: exactMatch NCIT:C34927

[Term]
id: MONDO:0001248
name: obsolete rabies
is_obsolete: true
replaced_by: MONDO:0019173

[Term]
id: MONDO:0001249
name: trachoma
def: "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." [MESH:D014141]
subset: gard_rare {source="GARD:0010374"}
synonym: "active stage trachoma" EXACT [DOID:11265]
synonym: "trachoma dubium" EXACT [DOID:11265]
xref: COHD:380640 {source="MONDO:equivalentTo"}
xref: DOID:11265 {source="MONDO:equivalentTo"}
xref: GARD:0010374 {source="MONDO:equivalentTo"}
xref: ICD10:A71 {source="DOID:11265"}
xref: ICD10:A71.0 {source="DOID:11265"}
xref: ICD10:A71.1 {source="DOID:11265"}
xref: ICD10:A71.9 {source="DOID:11265"}
xref: ICD9:076 {source="DOID:11265"}
xref: ICD9:076.0 {source="DOID:11265"}
xref: ICD9:076.1 {source="DOID:11265"}
xref: ICD9:076.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11265"}
xref: MESH:D014141 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11265"}
xref: SCTID:2576002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.81/0.56/0.46", source="DOID:11265"}
xref: UMLS:C0040592 {source="MONDO:equivalentTo", source="DOID:11265"}
is_a: MONDO:0005701 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! chlamydia trachomatis infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154367007
property_value: closeMatch http://identifiers.org/snomedct/186671005
property_value: closeMatch http://identifiers.org/snomedct/186672003
property_value: closeMatch http://identifiers.org/snomedct/187379009
property_value: closeMatch http://identifiers.org/snomedct/266200005
property_value: closeMatch http://identifiers.org/snomedct/29976007
property_value: closeMatch http://identifiers.org/snomedct/52812002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153107
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153108
property_value: exactMatch DOID:11265
property_value: exactMatch http://identifiers.org/mesh/D014141
property_value: exactMatch http://identifiers.org/snomedct/2576002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040592
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10374/trachoma xsd:anyURI {source="GARD:0010374"}

[Term]
id: MONDO:0001250
name: keratomalacia
def: "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." [https://en.wikipedia.org/wiki/Keratomalacia]
xref: DOID:11267 {source="MONDO:equivalentTo"}
xref: GARD:0006825 {source="MONDO:equivalentTo"}
xref: ICD10:H18.44 {source="DOID:11267"}
xref: ICD9:371.45 {source="MONDO:equivalentTo", source="i2s", source="DOID:11267"}
xref: MESH:C536156 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11267"}
xref: SCTID:85149007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11267"}
xref: UMLS:C0152455 {source="MONDO:equivalentTo", source="DOID:11267"}
is_a: MONDO:0005328 {source="DOID:11267/inferred", source="https://en.wikipedia.org/wiki/Keratomalacia", source="linkedlifedata/inferred"} ! eye disease
relationship: disease_has_feature MONDO:0001515 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! corneal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193827004
property_value: exactMatch DOID:11267
property_value: exactMatch http://identifiers.org/mesh/C536156
property_value: exactMatch http://identifiers.org/snomedct/85149007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152455

[Term]
id: MONDO:0001251
name: chronic apical periodontitis
def: "Chronic form of periapical periodontitis." [MONDO:patterns/chronic]
synonym: "chronic periapical periodontitis" EXACT [MONDO:design_pattern]
synonym: "periapical periodontitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: COHD:137591 {source="MONDO:equivalentTo"}
xref: DOID:11269 {source="MONDO:equivalentTo"}
xref: ICD10:K04.5 {source="DOID:11269", source="MONDO:equivalentTo"}
xref: ICD9:522.6 {source="DOID:11269", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:718052004 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"}
xref: UMLS:C0392492 {source="DOID:11269", source="MONDO:equivalentTo"}
is_a: MONDO:0004508 {source="DOID:11269", source="MONDO:Redundant", source="MONDOLEX:0001251", source="linkedlifedata"} ! periapical periodontitis
is_a: MONDO:0005593 ! chronic periodontitis
property_value: closeMatch http://identifiers.org/snomedct/196343008
property_value: closeMatch http://identifiers.org/snomedct/196345001
property_value: closeMatch http://identifiers.org/snomedct/87782002
property_value: exactMatch DOID:11269
property_value: exactMatch http://identifiers.org/snomedct/718052004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392492

[Term]
id: MONDO:0001252
name: Plummer disease
def: "Nodular enlargement of the thyroid gland associated with hyperthyroidism." [NCIT:P378]
synonym: "Plummer disease" EXACT [DOID:11277]
synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Toxic goiter" EXACT [NCIT:C35171]
synonym: "toxic nodular goiter" EXACT [DOID:11277, NCIT:C35171]
xref: COHD:134619 {source="MONDO:equivalentTo"}
xref: DOID:11277 {source="MONDO:equivalentTo"}
xref: EFO:0009191 {source="MONDO:equivalentTo"}
xref: ICD10:E05.2 {source="DOID:11277"}
xref: ICD9:242.3 {source="DOID:11277"}
xref: ICD9:242.30 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35171 {source="MONDO:equivalentTo", source="DOID:11277"}
xref: SCTID:57777000 {source="MONDO:equivalentTo", source="DOID:11277", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342127 {source="MONDO:equivalentTo", source="DOID:11277"}
is_a: MONDO:0004425 {source="DOID:11277", source="EFO:0009191", source="NCIT:C35171", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperthyroidism
property_value: closeMatch http://identifiers.org/snomedct/190250001
property_value: closeMatch http://identifiers.org/snomedct/190254005
property_value: exactMatch DOID:11277
property_value: exactMatch http://identifiers.org/snomedct/57777000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342127
property_value: exactMatch NCIT:C35171

[Term]
id: MONDO:0001253
name: obsolete solar retinopathy
synonym: "solar retinitis" EXACT [DOID:11282]
xref: DOID:11282 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:H31.02 {source="DOID:11282"}
xref: ICD9:363.31 {source="DOID:11282"}
xref: SCTID:1135000 {source="MONDO:obsoleteEquivalent", source="DOID:11282", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152131 {source="MONDO:obsoleteEquivalent", source="DOID:11282", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch DOID:11282
property_value: exactMatch http://identifiers.org/snomedct/1135000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152131
is_obsolete: true

[Term]
id: MONDO:0001254
name: obsolete peripheral scars of retina
xref: DOID:11283 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:363.34 {source="DOID:11283"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154888
property_value: exactMatch DOID:11283
is_obsolete: true

[Term]
id: MONDO:0001255
name: ventilation pneumonitis
def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." [DOID:11289, http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf]
synonym: "Air-conditioner and humidifier lung" EXACT [DOID:11289]
synonym: "humidifier lung" EXACT [DOID:11289]
xref: COHD:434670 {source="MONDO:equivalentTo"}
xref: DOID:11289 {source="MONDO:equivalentTo"}
xref: ICD10:J67.7 {source="DOID:11289"}
xref: ICD9:495.7 {source="DOID:11289"}
xref: SCTID:195990006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20", source="DOID:11289"}
xref: UMLS:C0155891 {source="MONDO:equivalentTo", source="DOID:11289"}
is_a: MONDO:0004553 {source="DOID:11289"} ! extrinsic allergic alveolitis
property_value: closeMatch http://identifiers.org/snomedct/48347002
property_value: exactMatch DOID:11289
property_value: exactMatch http://identifiers.org/snomedct/195990006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155891

[Term]
id: MONDO:0001256
name: arteriovenous hemangioma/malformation
def: "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." [NCIT:C2882]
comment: Editor note: NCIT conflates hemangioma and malformation
synonym: "arteriovenous angioma" EXACT [NCIT:C2882]
synonym: "arteriovenous hemangioma" EXACT [NCIT:C2882]
synonym: "arteriovenous hemangioma/malformation" EXACT [NCIT:C2882]
synonym: "arteriovenous malformation" RELATED [DOID:11294]
synonym: "cirsoid aneurysm" RELATED [DOID:11294]
synonym: "racemose aneurysm" EXACT [DOID:11294]
synonym: "racemose aneurysm (morphologic abnormality)" EXACT [DOID:11294]
synonym: "racemose angioma" EXACT [DOID:11294, NCIT:C4297]
synonym: "racemose hemangioma" EXACT [NCIT:C2882]
synonym: "racemose hemangioma (morphologic abnormality)" EXACT [DOID:11294]
xref: CSP:0571-2717 {source="DOID:11294"}
xref: DOID:11294 {source="MONDO:equivalentTo"}
xref: HP:0100026 {source="MONDO:otherHierarchy", source="DOID:11294"}
xref: ICD10:I77.0 {source="DOID:11294"}
xref: ICDO:9123/0 {source="NCIT:C2882"}
xref: MESH:D001165 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2882 {source="MONDO:equivalentTo", source="DOID:11294", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:233982006 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:11294"}
xref: UMLS:C0334533 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:11294"}
is_a: MONDO:0006500 {source="DOID:11294"} ! hemangioma
property_value: closeMatch http://identifiers.org/snomedct/11071001
property_value: closeMatch http://identifiers.org/snomedct/14156004
property_value: closeMatch http://identifiers.org/snomedct/204480002
property_value: closeMatch http://identifiers.org/snomedct/403966009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003857
property_value: exactMatch DOID:11294
property_value: exactMatch http://identifiers.org/mesh/D001165
property_value: exactMatch http://identifiers.org/snomedct/233982006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334533
property_value: exactMatch NCIT:C2882

[Term]
id: MONDO:0001257
name: retinal microaneurysm
comment: Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265
xref: COHD:432890 {source="MONDO:equivalentTo"}
xref: DOID:11295 {source="MONDO:equivalentTo"}
xref: ICD9:362.14 {source="MONDO:equivalentTo", source="DOID:11295", source="i2s"}
xref: SCTID:34037000 {source="MONDO:equivalentTo", source="DOID:11295", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154834 {source="MONDO:equivalentTo", source="DOID:11295"}
is_a: MONDO:0002311 {source="DOID:11295", source="linkedlifedata/inferred"} ! retinal vascular disease
property_value: closeMatch http://identifiers.org/snomedct/193363005
property_value: exactMatch DOID:11295
property_value: exactMatch http://identifiers.org/snomedct/34037000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154834

[Term]
id: MONDO:0001258
name: vertebral artery occlusion
synonym: "occlusion and stenosis of vertebral artery" EXACT [DOID:11299]
synonym: "vertebral artery occlusion" EXACT [DOID:11299]
synonym: "vertebrobasial artery occlusion" RELATED []
xref: DOID:11299 {source="MONDO:equivalentTo"}
xref: ICD10:I65.0 {source="MONDO:equivalentTo", source="DOID:11299"}
xref: ICD9:433.2 {source="DOID:11299"}
xref: ICD9:433.20 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.21 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:195182007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003718 {source="DOID:11299", source="linkedlifedata/inferred"} ! occlusion precerebral artery
is_a: MONDO:0020673 ! arterial occlusion
relationship: excluded_subClassOf MONDO:0000812 {source="DOID:11299"} ! vertebral column disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155724
property_value: exactMatch DOID:11299
property_value: exactMatch http://identifiers.org/snomedct/195182007

[Term]
id: MONDO:0001259
name: pituitary gland infarction
def: "Ischemic necrosis of the pituitary gland." [NCIT:P378]
synonym: "pituitary gland infarction" EXACT [NCIT:C27117]
synonym: "pituitary infarct" EXACT [DOID:1130]
synonym: "pituitary infarction" EXACT [DOID:1130, NCIT:C27117]
xref: DOID:1130 {source="MONDO:equivalentTo"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27117 {source="DOID:1130", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:95830009 {source="DOID:1130", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342405 {source="DOID:1130", source="MONDO:equivalentTo", source="NCIT:C27117"}
is_a: MONDO:0002721 {source="DOID:1130", source="linkedlifedata"} ! necrosis of pituitary
property_value: exactMatch DOID:1130
property_value: exactMatch http://identifiers.org/snomedct/95830009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342405
property_value: exactMatch NCIT:C27117

[Term]
id: MONDO:0001260
name: cercarial dermatitis
def: "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." [NCIT:P378]
subset: gard_rare {source="GARD:0009747"}
synonym: "cutaneous schistosomiasis" EXACT [DOID:11302, ICD9CM_2006:120.3]
synonym: "duck Itch" EXACT [NCIT:C128349]
synonym: "lake Itch" EXACT [NCIT:C128349]
synonym: "Sea bather's eruption" EXACT [DOID:11302]
synonym: "swimmer's itch" RELATED [GARD:0009747]
xref: DOID:11302 {source="MONDO:equivalentTo"}
xref: GARD:0009747 {source="MONDO:equivalentTo"}
xref: ICD10:B65.3 {source="DOID:11302", source="MONDO:equivalentTo"}
xref: ICD9:120.3 {source="DOID:11302"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C128349 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.16"}
xref: SCTID:238534006 {source="DOID:11302", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0546996 {source="MEDGEN:kboom-pr97-c98", source="DOID:11302", source="MONDO:equivalentTo"}
xref: UMLS:C4282208 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="DOID:11302"} ! schistosomiasis
is_a: MONDO:0021201 ! skin infection
is_a: MONDO:0024610 ! parasitic skin disease
property_value: closeMatch http://identifiers.org/snomedct/187115002
property_value: closeMatch http://identifiers.org/snomedct/86711009
property_value: closeMatch NCIT:C34457
property_value: exactMatch DOID:11302
property_value: exactMatch http://identifiers.org/snomedct/238534006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4282208
property_value: exactMatch NCIT:C128349
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis xsd:anyURI {source="GARD:0009747"}

[Term]
id: MONDO:0001261
name: Mobitz type II atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)" [NCIT:C62018]
synonym: "AV block second degree Mobitz type II" EXACT [NCIT:C62018]
synonym: "AV block second degree Möbitz type II" EXACT [NCIT:C62018]
synonym: "Mobitz (type) II atrioventricular block" EXACT [DOID:11312, ICD9CM_2006:426.12]
synonym: "Mobitz II" EXACT [NCIT:C62018]
synonym: "Mobitz II atrioventricular block" EXACT [DOID:11312, MTHICD9_2006:426.12]
synonym: "Mobitz type II second degree AV block" EXACT [NCIT:C62018]
synonym: "Möbitz II" EXACT [NCIT:C62018]
synonym: "Möbitz type II second degree AV block" EXACT [NCIT:C62018]
synonym: "second degree atrioventricular block Mobitz type II" EXACT [NCIT:C62018]
synonym: "second degree atrioventricular block Möbitz type II" EXACT [NCIT:C62018]
synonym: "type 2 2nd degree AV block" EXACT [NCIT:C62018]
synonym: "type 2 second degree AV block" EXACT [NCIT:C62018]
synonym: "type II second degree atrioventricular block" EXACT [NCIT:C62018]
synonym: "type II second degree AV block" EXACT [NCIT:C62018]
xref: COHD:313780 {source="MONDO:equivalentTo"}
xref: DOID:11312 {source="MONDO:equivalentTo"}
xref: ICD9:426.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:11312"}
xref: NCIT:C62018 {source="MONDO:equivalentTo", source="DOID:11312", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:28189009 {source="MONDO:equivalentTo", source="DOID:11312", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155700 {source="NCIT:C62018", source="MONDO:equivalentTo", source="DOID:11312"}
is_a: MONDO:0000467 {source="DOID:11312", source="MONDOLEX:0001261", source="NCIT:C62018", source="linkedlifedata"} ! second-degree atrioventricular block
property_value: exactMatch DOID:11312
property_value: exactMatch http://identifiers.org/snomedct/28189009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155700
property_value: exactMatch NCIT:C62018

[Term]
id: MONDO:0001262
name: African histoplasmosis
def: "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "African histoplasmosis" EXACT []
synonym: "Histoplasma capsulatum var. duboisii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum var. duboisii disease or disorder" EXACT []
synonym: "Histoplasma capsulatum var. duboisii infectious disease" EXACT []
synonym: "Histoplasma duboisii infection" RELATED []
synonym: "infection by Histoplasma duboisii" RELATED []
synonym: "large form histoplasmosis" RELATED []
xref: DOID:11315 {source="MONDO:equivalentTo"}
xref: ICD9:115.10 {source="DOID:11315", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:78511005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0220977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002099 {source="MONDO:Redundant", source="linkedlifedata"} ! Histoplasma capsulatum infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153270
property_value: exactMatch DOID:11315
property_value: exactMatch http://identifiers.org/snomedct/78511005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220977

[Term]
id: MONDO:0001263
name: histoplasmosis retinitis
def: "An retinitis caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum retinitis" EXACT []
synonym: "histoplasmosis with retinitis" EXACT [DOID:11316]
xref: DOID:11316 {source="MONDO:equivalentTo"}
xref: ICD9:115.92 {source="DOID:11316", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:187058000 {source="DOID:11316", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153278 {source="DOID:11316", source="MONDO:equivalentTo"}
is_a: MONDO:0002099 ! Histoplasma capsulatum infectious disease
is_a: MONDO:0002708 {source="DOID:11316", source="MONDO:Redundant", source="linkedlifedata"} ! retinitis
is_a: MONDO:0016047 ! endophthalmitis
is_a: MONDO:0020010 ! infectious disease of the nervous system
is_a: MONDO:0020944 ! fungal infection of eye
property_value: exactMatch DOID:11316
property_value: exactMatch http://identifiers.org/snomedct/187058000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153278

[Term]
id: MONDO:0001264
name: obsolete Kyasanur forest disease
is_obsolete: true
replaced_by: MONDO:0017881

[Term]
id: MONDO:0001265
name: schizophreniform disorder
def: "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." [NCIT:P378]
xref: COHD:444434 {source="MONDO:equivalentTo"}
xref: DOID:11328 {source="MONDO:equivalentTo"}
xref: ICD10:F20.81 {source="DOID:11328", source="MONDO:equivalentTo"}
xref: ICD9:295.4 {source="DOID:11328"}
xref: NCIT:C94376 {source="DOID:11328", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:88975006 {source="DOID:11328", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005485 {source="DOID:11328", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! psychotic disorder
property_value: closeMatch http://identifiers.org/mesh/D011618
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036358
property_value: exactMatch DOID:11328
property_value: exactMatch http://identifiers.org/snomedct/88975006
property_value: exactMatch NCIT:C94376

[Term]
id: MONDO:0001266
name: erysipelas
def: "an infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." [https://rarediseases.org/rare-diseases/erysipelas/]
comment: The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes
subset: gard_rare {source="GARD:0006370"}
xref: COHD:138346 {source="MONDO:equivalentTo"}
xref: DOID:11330 {source="MONDO:equivalentTo"}
xref: EFO:1001462 {source="MONDO:equivalentTo"}
xref: GARD:0006370 {source="MONDO:equivalentTo"}
xref: HP:0001055 {source="MONDO:otherHierarchy"}
xref: ICD10:A46 {source="MONDO:equivalentTo", source="DOID:11330"}
xref: ICD9:035 {source="MONDO:equivalentTo", source="i2s", source="DOID:11330"}
xref: MESH:D004886 {source="MONDO:equivalentTo", source="DOID:11330", source="MONDO:ontobio"}
xref: SCTID:44653001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11330"}
xref: UMLS:C0014733 {source="MONDO:equivalentTo", source="DOID:11330"}
is_a: MONDO:0021201 {source="https://rarediseases.org/rare-diseases/erysipelas/"} ! skin infection
is_a: MONDO:0021680 ! streptococcal infection
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
relationship: excluded_subClassOf MONDO:0002406 {source="DOID:11330"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/154305002
property_value: closeMatch http://identifiers.org/snomedct/266005008
property_value: exactMatch DOID:11330
property_value: exactMatch http://identifiers.org/mesh/D004886
property_value: exactMatch http://identifiers.org/snomedct/44653001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014733
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6370/erysipelas xsd:anyURI {source="GARD:0006370"}

[Term]
id: MONDO:0001267
name: obsolete Lemierre syndrome
synonym: "obsolete Lemierre's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0015306

[Term]
id: MONDO:0001268
name: gingival recession
def: "A loss of gum tissue resulting in an exposure of the roots of the teeth." [NCIT:P378]
synonym: "gingival recession" EXACT [DOID:1134, ICD9CM_2006:523.2]
synonym: "gingival recession, localized" EXACT [DOID:1134, ICD9CM_2006:523.24]
synonym: "gingival recession, unspecified" EXACT [DOID:1134, ICD9CM_2006:523.20]
synonym: "localized gingival recession" EXACT [DOID:1134]
synonym: "minimal gingival recession" EXACT [DOID:1134]
synonym: "moderate gingival recession" EXACT [DOID:1134]
synonym: "severe gingival recession" EXACT [DOID:1134]
xref: COHD:134386 {source="MONDO:equivalentTo"}
xref: DOID:1134 {source="MONDO:equivalentTo"}
xref: ICD10:K06.0 {source="DOID:1134", source="MONDO:equivalentTo"}
xref: ICD9:523.2 {source="DOID:1134"}
xref: ICD9:523.20 {source="DOID:1134"}
xref: ICD9:523.21 {source="DOID:1134"}
xref: ICD9:523.22 {source="DOID:1134"}
xref: ICD9:523.23 {source="DOID:1134"}
xref: ICD9:523.24 {source="DOID:1134"}
xref: MESH:D005889 {source="DOID:1134", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:59898000 {source="DOID:1134", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0017572 {source="DOID:1134", source="MONDO:equivalentTo"}
xref: UMLS:C0266916 {source="MEDGEN:kboom-pr97-c98", source="DOID:1134", source="MONDO:equivalentTo"}
is_a: MONDO:0002021 {source="DOID:1134", source="MESH:D005889", source="linkedlifedata", source="linkedlifedata/inferred"} ! gingival disease
property_value: closeMatch http://identifiers.org/snomedct/155645006
property_value: closeMatch http://identifiers.org/snomedct/196360003
property_value: closeMatch http://identifiers.org/snomedct/4356008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456171
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456172
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456173
property_value: exactMatch DOID:1134
property_value: exactMatch http://identifiers.org/mesh/D005889
property_value: exactMatch http://identifiers.org/snomedct/59898000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266916
property_value: exactMatch NCIT:C82068

[Term]
id: MONDO:0001269
name: scleral disease
def: "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." [NCIT:P378]
synonym: "disease of sclera" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sclera" EXACT []
synonym: "disorder of sclera" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sclera" RELATED [MONDO:patterns/location_top]
synonym: "sclera disease" EXACT [MONDO:patterns/location]
synonym: "sclera disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sclera disorder" EXACT [NCIT:C79717]
synonym: "scleral disorder" EXACT [NCIT:C79717]
xref: DOID:11343 {source="MONDO:equivalentTo"}
xref: ICD10:H15 {source="DOID:11343"}
xref: ICD10:H15.9 {source="DOID:11343"}
xref: ICD9:379.19 {source="linkedlifedata"}
xref: MESH:D015422 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11343"}
xref: NCIT:C79717 {source="MONDO:equivalentTo", source="DOID:11343"}
xref: SCTID:33064008 {source="MONDO:equivalentTo", source="DOID:11343"}
xref: UMLS:C0036412 {source="MONDO:equivalentTo", source="DOID:11343"}
is_a: MONDO:0005328 {source="DOID:11343", source="MESH:D015422", source="MONDO:Redundant", source="NCIT:C79717", source="linkedlifedata"} ! eye disease
property_value: exactMatch DOID:11343
property_value: exactMatch http://identifiers.org/mesh/D015422
property_value: exactMatch http://identifiers.org/snomedct/33064008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036412
property_value: exactMatch NCIT:C79717

[Term]
id: MONDO:0001270
name: stone in bladder diverticulum
synonym: "calculus in diverticulum of bladder" EXACT [DOID:11354, ICD9CM_2006:594.0]
xref: COHD:192965 {source="MONDO:equivalentTo"}
xref: DOID:11354 {source="MONDO:equivalentTo"}
xref: ICD10:N21.0 {source="DOID:11354"}
xref: ICD9:594.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11354"}
xref: SCTID:18109005 {source="MONDO:equivalentTo", source="DOID:11354", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156265 {source="MONDO:equivalentTo", source="DOID:11354"}
is_a: MONDO:0006678 {source="DOID:11354", source="linkedlifedata"} ! bladder calculus
is_a: MONDO:0007197 {source="DOID:11354"} ! bladder diverticulum (disease)
property_value: exactMatch DOID:11354
property_value: exactMatch http://identifiers.org/snomedct/18109005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156265

[Term]
id: MONDO:0001271
name: lens subluxation (disease)
def: "A partial dislocation of the lens of the eye." [NCIT:P378]
synonym: "lens subluxation" EXACT [MONDO:ambiguous]
synonym: "subluxation of lens" EXACT [DOID:11364, ICD9CM_2006:379.32]
xref: COHD:376123 {source="MONDO:equivalentTo"}
xref: DOID:11364 {source="MONDO:equivalentTo"}
xref: HP:0001132 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H27.11 {source="DOID:11364"}
xref: ICD9:379.32 {source="MONDO:equivalentTo", source="i2s", source="DOID:11364"}
xref: MESH:D007906 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11364"}
xref: NCIT:C34772 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11364"}
xref: SCTID:65814009 {source="MONDO:equivalentTo", source="DOID:11364", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023316 {source="MONDO:equivalentTo", source="NCIT:C34772", source="DOID:11364"}
is_a: MONDO:0001176 {source="DOID:11364", source="MESH:D007906", source="NCIT:C34772", source="linkedlifedata"} ! lens disease
property_value: closeMatch http://identifiers.org/snomedct/155203002
property_value: closeMatch http://identifiers.org/snomedct/267748002
property_value: exactMatch DOID:11364
property_value: exactMatch http://identifiers.org/mesh/D007906
property_value: exactMatch http://identifiers.org/snomedct/65814009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023316
property_value: exactMatch NCIT:C34772

[Term]
id: MONDO:0001272
name: functional diarrhea
xref: COHD:80141 {source="MONDO:equivalentTo"}
xref: DOID:11371 {source="MONDO:equivalentTo"}
xref: ICD10:K59.1 {source="MONDO:equivalentTo", source="DOID:11371"}
xref: ICD9:564.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:11371"}
xref: SCTID:47812002 {source="MONDO:equivalentTo", source="DOID:11371", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156173 {source="MONDO:equivalentTo", source="DOID:11371"}
is_a: MONDO:0003409 {source="DOID:11371", source="linkedlifedata"} ! colonic disease
property_value: exactMatch DOID:11371
property_value: exactMatch http://identifiers.org/snomedct/47812002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156173

[Term]
id: MONDO:0001273
name: megacolon
def: "An abnormal dilation of the colon not due to obstruction." [NCIT:P378]
synonym: "dilatation of colon" EXACT [DOID:11372, MTHICD9_2006:564.7]
xref: DOID:11372 {source="MONDO:equivalentTo"}
xref: ICD10:K59.3 {source="DOID:11372"}
xref: ICD9:564.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008531 {source="MONDO:equivalentTo", source="DOID:11372", source="MONDO:ontobio"}
xref: NCIT:C34810 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:11372"}
xref: SCTID:33995003 {source="MONDO:equivalentTo", source="DOID:11372", source="MONDO:kboom-pr-1.00/0.79/8.17"}
is_a: MONDO:0003409 {source="DOID:11372", source="MESH:D008531", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease
property_value: closeMatch http://identifiers.org/snomedct/197138002
property_value: closeMatch http://identifiers.org/snomedct/197144003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025160
property_value: exactMatch DOID:11372
property_value: exactMatch http://identifiers.org/mesh/D008531
property_value: exactMatch http://identifiers.org/snomedct/33995003
property_value: exactMatch NCIT:C34810

[Term]
id: MONDO:0001274
name: anal spasm
xref: COHD:134404 {source="MONDO:equivalentTo"}
xref: DOID:11374 {source="MONDO:equivalentTo"}
xref: ICD10:K59.4 {source="MONDO:equivalentTo", source="DOID:11374"}
xref: ICD9:564.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11374"}
xref: SCTID:17440005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11374"}
xref: UMLS:C0152167 {source="MONDO:equivalentTo", source="DOID:11374"}
is_a: MONDO:0002519 {source="DOID:11374", source="linkedlifedata"} ! anus disease
property_value: closeMatch http://identifiers.org/snomedct/197136003
property_value: closeMatch http://identifiers.org/snomedct/197137007
property_value: exactMatch DOID:11374
property_value: exactMatch http://identifiers.org/snomedct/17440005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152167

[Term]
id: MONDO:0001275
name: spinal meningioma
def: "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system . This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors ( metastatic ), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures . Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation . Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." [https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma]
subset: gard_rare {source="GARD:0010264"}
synonym: "meningioma (disease) of spinal cord" EXACT []
synonym: "meningioma of spinal cord" EXACT [NCIT:C6935]
synonym: "meningioma of the spinal cord" EXACT [NCIT:C6935]
synonym: "meningioma, spine" RELATED [GARD:0010264]
synonym: "spinal cord meningioma" EXACT [DOID:1138, NCIT:C6935]
synonym: "spinal cord meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:1138 {source="MONDO:equivalentTo"}
xref: GARD:0010264 {source="MONDO:equivalentTo"}
xref: NCIT:C6935 {source="MONDO:equivalentTo", source="DOID:1138", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:189167009 {source="MONDO:equivalentTo", source="DOID:1138", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0347515 {source="MONDO:equivalentTo", source="DOID:1138", source="NCIT:C6935"}
is_a: MONDO:0001279 {source="DOID:1138", source="NCIT:C6935"} ! intraspinal meningioma
is_a: MONDO:0021234 ! spinal cord neoplasm
property_value: exactMatch DOID:1138
property_value: exactMatch http://identifiers.org/snomedct/189167009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347515
property_value: exactMatch NCIT:C6935
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma xsd:anyURI {source="GARD:0010264"}

[Term]
id: MONDO:0001276
name: expressive language disorder
def: "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." [NCIT:C92562]
synonym: "developmental expressive language disorder" EXACT [DOID:11385]
synonym: "expressive language disorder" EXACT [NCIT:C92562]
xref: COHD:4047124 {source="MONDO:equivalentTo"}
xref: DOID:11385 {source="MONDO:equivalentTo"}
xref: ICD10:F80.1 {source="MONDO:equivalentTo", source="DOID:11385"}
xref: ICD9:315.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:11385"}
xref: NCIT:C92562 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11385"}
xref: SCTID:229733002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:11385"}
is_a: MONDO:0004750 {source="DOID:11385", source="NCIT:C92562"} ! language disorder
property_value: closeMatch http://identifiers.org/snomedct/192565006
property_value: closeMatch http://identifiers.org/snomedct/268734000
property_value: closeMatch http://identifiers.org/snomedct/80360005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236826
property_value: exactMatch DOID:11385
property_value: exactMatch http://identifiers.org/snomedct/229733002
property_value: exactMatch NCIT:C92562

[Term]
id: MONDO:0001277
name: cerebral arteritis
def: "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "cerebral artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cerebral artery" EXACT []
xref: COHD:380747 {source="MONDO:equivalentTo"}
xref: DOID:11390 {source="MONDO:equivalentTo"}
xref: ICD9:437.4 {source="DOID:11390", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:28366008 {source="DOID:11390", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007773 {source="DOID:11390", source="MONDO:equivalentTo"}
is_a: MONDO:0003346 ! central nervous system vasculitis
is_a: MONDO:0011057 {source="DOID:11390", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebrovascular disorder
is_a: MONDO:0043494 ! arteritis
property_value: exactMatch DOID:11390
property_value: exactMatch http://identifiers.org/snomedct/28366008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007773

[Term]
id: MONDO:0001278
name: obsolete adult respiratory distress syndrome
def: "A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." [MESH:D012128]
is_obsolete: true
replaced_by: MONDO:0006502

[Term]
id: MONDO:0001279
name: intraspinal meningioma
def: "A meningioma that arises from the spinal meninges." [NCIT:C5134]
synonym: "intraspinal meningioma" EXACT [NCIT:C5134]
synonym: "meningioma of spinal canal and spinal cord" EXACT [NCIT:C5134]
synonym: "meningioma of the spinal canal and spinal cord" EXACT [NCIT:C5134]
synonym: "spinal canal and spinal cord meningioma" EXACT [NCIT:C5134]
xref: DOID:1140 {source="MONDO:equivalentTo"}
xref: NCIT:C5134 {source="MONDO:equivalentTo", source="DOID:1140", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334264 {source="NCIT:C5134", source="MONDO:equivalentTo", source="DOID:1140"}
is_a: MONDO:0016642 {source="MONDOLEX:0001279", source="NCIT:C5134/inferred"} ! meningioma (disease)
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:1140"} ! spinal cord cancer
property_value: exactMatch DOID:1140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334264
property_value: exactMatch NCIT:C5134

[Term]
id: MONDO:0001280
name: choroiditis
def: "An inflammatory process that affects the choroid." [NCIT:C35111]
subset: ordo_group_of_disorders {source="Orphanet:280892"}
synonym: "Choroiditides" EXACT [MESH:D002833]
synonym: "choroiditis" EXACT [NCIT:C35111, Orphanet:280892]
synonym: "posterior uveitis" EXACT [MONDO:ambiguous, NCIT:C35111]
synonym: "posterior uveitis (disease)" EXACT [MONDO:0017254]
xref: DOID:11406 {source="MONDO:equivalentTo"}
xref: GARD:0006062 {source="shared-xref", source="MONDO:equivalentTo"}
xref: HP:0012123 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H30.0 {source="ORDO:280892/btnt", source="Orphanet:280892"}
xref: ICD10:H30.1 {source="ORDO:280892/btnt", source="Orphanet:280892"}
xref: ICD10:H30.2 {source="ORDO:280892/btnt", source="Orphanet:280892"}
xref: ICD10:H30.8 {source="ORDO:280892/btnt", source="Orphanet:280892"}
xref: ICD10:H30.9 {source="ORDO:280892/btnt", source="DOID:11406", source="Orphanet:280892"}
xref: MedDRA:10036370 {source="Orphanet:280892", source="ORDO:280892/e"}
xref: MESH:D002833 {source="DOID:11406", source="MONDO:equivalentTo"}
xref: NCIT:C35111 {source="DOID:11406", source="MONDO:equivalentTo"}
xref: Orphanet:280892 {source="MONDO:equivalentTo"}
xref: SCTID:16553002 {source="DOID:11406", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.68/0.79"}
xref: UMLS:C0008526 {source="DOID:11406", source="MONDO:equivalentTo", source="Orphanet:280892"}
xref: UMLS:C0042167 {source="NCIT:C35111", source="MONDO:equivalentTo", source="Orphanet:280892", source="ORDO:280892/e"}
is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Redundant", source="linkedlifedata"} ! optic choroid disease
is_a: MONDO:0006918 ! posterior uveitis
is_a: MONDO:0018882 ! vasculitis
property_value: closeMatch http://identifiers.org/snomedct/193449000
property_value: exactMatch DOID:11406
property_value: exactMatch http://identifiers.org/meddra/10036370
property_value: exactMatch http://identifiers.org/mesh/D002833
property_value: exactMatch http://identifiers.org/snomedct/16553002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042167
property_value: exactMatch NCIT:C35111
property_value: exactMatch Orphanet:280892

[Term]
id: MONDO:0001281
name: alternating exotropia
def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099]
xref: COHD:377561 {source="MONDO:equivalentTo"}
xref: DOID:1142 {source="MONDO:equivalentTo"}
xref: ICD10:H50.15 {source="DOID:1142", source="MONDO:equivalentTo"}
xref: ICD9:378.15 {source="DOID:1142", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:37214009 {source="DOID:1142", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152207 {source="DOID:1142", source="MONDO:equivalentTo"}
is_a: MONDO:0001286 {source="DOID:1142", source="ICD10:H50.15", source="MONDOLEX:0001281"} ! exotropia
property_value: closeMatch http://identifiers.org/snomedct/194093000
property_value: exactMatch DOID:1142
property_value: exactMatch http://identifiers.org/snomedct/37214009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152207

[Term]
id: MONDO:0001282
name: fallopian tube endometriosis
def: "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." [NCIT:C26763]
synonym: "endometriosis (disease) of fallopian tube" EXACT []
synonym: "endometriosis of fallopian tube" EXACT [DOID:11424, ICD9CM_2006:617.2]
synonym: "fallopian tube endometriosis" EXACT [NCIT:C26763]
synonym: "fallopian tube endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: COHD:194420 {source="MONDO:equivalentTo"}
xref: DOID:11424 {source="MONDO:equivalentTo"}
xref: ICD10:N80.2 {source="DOID:11424"}
xref: ICD9:617.2 {source="DOID:11424", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26763 {source="DOID:11424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:22611009 {source="DOID:11424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014177 {source="DOID:11424", source="MONDO:equivalentTo", source="NCIT:C26763"}
is_a: MONDO:0002156 {source="DOID:11424", source="MONDO:Redundant", source="NCIT:C26763/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube disease
is_a: MONDO:0005133 {source="DOID:11424", source="ICD10:N80.2", source="MONDO:Redundant", source="NCIT:C26763", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
property_value: exactMatch DOID:11424
property_value: exactMatch http://identifiers.org/snomedct/22611009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014177
property_value: exactMatch NCIT:C26763

[Term]
id: MONDO:0001283
name: endosalpingiosis
def: "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." [NCIT:C40121]
synonym: "endosalpingiosis" EXACT [NCIT:C40121]
xref: DOID:11427 {source="MONDO:equivalentTo"}
xref: NCIT:C40121 {source="DOID:11427", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:55850004 {source="DOID:11427", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0269106 {source="DOID:11427", source="MONDO:equivalentTo", source="NCIT:C40121"}
is_a: MONDO:0002263 {source="DOID:11427/inferred", source="NCIT:C40121/inferred"} ! female reproductive system disease
disjoint_from: MONDO:0005133 {source="PMID:22819185"} ! endometriosis (disease)
relationship: disease_shares_features_of MONDO:0005133 ! endometriosis (disease)
relationship: excluded_subClassOf MONDO:0005133 {source="DOID:11427", source="endosalpingiosis is not a variant of endometriosis - PMID:22819185"} ! endometriosis (disease)
property_value: exactMatch DOID:11427
property_value: exactMatch http://identifiers.org/snomedct/55850004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269106
property_value: exactMatch NCIT:C40121

[Term]
id: MONDO:0001284
name: endometriosis of intestine
def: "Endometriosis that affects the intesines." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229526/]
synonym: "endometriosis (disease) of intestine" EXACT []
synonym: "intestine endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: COHD:194421 {source="MONDO:equivalentTo"}
xref: DOID:11428 {source="MONDO:equivalentTo"}
xref: ICD10:N80.5 {source="DOID:11428", source="MONDO:equivalentTo"}
xref: ICD9:617.5 {source="DOID:11428", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:5562006 {source="DOID:11428", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/7.75"}
xref: UMLS:C0156347 {source="DOID:11428", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:11428", source="MONDO:Redundant", source="linkedlifedata"} ! intestinal disease
is_a: MONDO:0005133 {source="DOID:11428", source="ICD10:N80.5", source="MONDO:Redundant", source="linkedlifedata"} ! endometriosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/198255005
property_value: exactMatch DOID:11428
property_value: exactMatch http://identifiers.org/snomedct/5562006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156347

[Term]
id: MONDO:0001285
name: endometriosis of pelvic peritoneum
xref: COHD:197033 {source="MONDO:equivalentTo"}
xref: DOID:11429 {source="MONDO:equivalentTo"}
xref: ICD10:N80.3 {source="MONDO:equivalentTo", source="DOID:11429"}
xref: ICD9:617.3 {source="MONDO:equivalentTo", source="DOID:11429", source="i2s"}
xref: SCTID:198251001 {source="MONDO:equivalentTo", source="DOID:11429", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156345 {source="MONDO:equivalentTo", source="DOID:11429"}
is_a: MONDO:0005133 {source="DOID:11429", source="ICD10:N80.3", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
is_a: MONDO:0020591 ! disease of peritoneum
property_value: closeMatch http://identifiers.org/snomedct/198252008
property_value: exactMatch DOID:11429
property_value: exactMatch http://identifiers.org/snomedct/198251001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156345

[Term]
id: MONDO:0001286
name: exotropia
def: "A form of strabismus in which the eyes are deviated laterally." [NCIT:P378]
synonym: "divergent concomitant strabismus" EXACT [DOID:1143, MTHICD9_2006:378.1]
synonym: "divergent strabismus" EXACT [DOID:1143, NCIT:C34601]
xref: COHD:377294 {source="MONDO:equivalentTo"}
xref: DOID:1143 {source="MONDO:equivalentTo"}
xref: ICD10:H50.1 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: ICD10:H50.10 {source="DOID:1143"}
xref: ICD9:378.1 {source="DOID:1143"}
xref: ICD9:378.10 {source="DOID:1143"}
xref: MESH:D005099 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: NCIT:C34601 {source="DOID:1143", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:399252000 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="DOID:1143", source="MONDO:equivalentTo"}
xref: UMLS:C0015310 {source="DOID:1143", source="MONDO:equivalentTo", source="NCIT:C34601"}
is_a: MONDO:0003432 {source="DOID:1143", source="NCIT:C34601", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/155194007
property_value: closeMatch http://identifiers.org/snomedct/194086004
property_value: closeMatch http://identifiers.org/snomedct/194098009
property_value: closeMatch http://identifiers.org/snomedct/399054005
property_value: closeMatch http://identifiers.org/snomedct/75400001
property_value: exactMatch DOID:1143
property_value: exactMatch http://identifiers.org/mesh/D005099
property_value: exactMatch http://identifiers.org/snomedct/399252000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015310
property_value: exactMatch NCIT:C34601

[Term]
id: MONDO:0001287
name: endometriosis in cutaneous scar
synonym: "endometriosis in scar of skin" EXACT []
synonym: "scar endometriosis" RELATED []
xref: COHD:139882 {source="MONDO:equivalentTo"}
xref: DOID:11430 {source="MONDO:equivalentTo"}
xref: ICD10:N80.6 {source="MONDO:equivalentTo", source="DOID:11430"}
xref: ICD9:617.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11430"}
xref: SCTID:53913001 {source="MONDO:equivalentTo", source="DOID:11430", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156348 {source="MONDO:equivalentTo", source="DOID:11430"}
is_a: MONDO:0005133 {source="DOID:11430", source="ICD10:N80.6", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
property_value: exactMatch DOID:11430
property_value: exactMatch http://identifiers.org/snomedct/53913001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156348

[Term]
id: MONDO:0001288
name: endometriosis of rectovaginal septum and vagina
def: "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." [NCIT:C128064]
synonym: "vaginal endometriosis" EXACT [NCIT:C128064]
xref: COHD:196739 {source="MONDO:equivalentTo"}
xref: DOID:11431 {source="MONDO:equivalentTo"}
xref: ICD10:N80.4 {source="MONDO:equivalentTo", source="DOID:11431"}
xref: ICD9:617.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:11431"}
xref: NCIT:C128064 {source="MONDO:equivalentTo"}
xref: SCTID:198253003 {source="MONDO:equivalentTo", source="DOID:11431", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156346 {source="MONDO:equivalentTo", source="DOID:11431"}
is_a: MONDO:0005133 {source="DOID:11431", source="ICD10:N80.4", source="NCIT:C128064", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/198254009
property_value: exactMatch DOID:11431
property_value: exactMatch http://identifiers.org/snomedct/198253003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156346
property_value: exactMatch NCIT:C128064

[Term]
id: MONDO:0001289
name: obsolete endometriosis of ovary
is_obsolete: true
replaced_by: MONDO:0006337

[Term]
id: MONDO:0001290
name: allergic cutaneous vasculitis
def: "Inflammation of the small vessels of the skin that is mediated by the immune system." [NCIT:C35119]
synonym: "allergic cutaneous angiitis" EXACT [DOID:11450, NCIT:C35119]
synonym: "autoimmune hypersensitivity angiitis" EXACT [DOID:11450]
xref: DOID:11450 {source="MONDO:equivalentTo"}
xref: NCIT:C35119 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004980 ! atopic eczema
is_a: MONDO:0006794 {source="DOID:11450", source="MONDO:Redundant"} ! hypersensitivity vasculitis
is_a: MONDO:0020576 ! cutaneous vasculitis
property_value: exactMatch DOID:11450
property_value: exactMatch NCIT:C35119

[Term]
id: MONDO:0001291
name: brain compression
xref: COHD:377550 {source="MONDO:equivalentTo"}
xref: DOID:11457 {source="MONDO:equivalentTo"}
xref: ICD10:G93.5 {source="DOID:11457", source="MONDO:equivalentTo"}
xref: ICD9:348.4 {source="DOID:11457", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:46963008 {source="DOID:11457", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C0009592 {source="DOID:11457", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:11457", source="linkedlifedata"} ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/193053006
property_value: exactMatch DOID:11457
property_value: exactMatch http://identifiers.org/snomedct/46963008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009592

[Term]
id: MONDO:0001292
name: autonomic nervous system disease
def: "A disease involving the autonomic nervous system." [MONDO:DesignPattern]
comment: Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html
synonym: "ANS (autonomic nervous system) diseases" RELATED [MESH:D001342]
synonym: "ANS disease" RELATED [MESH:D001342]
synonym: "ANS diseases" RELATED [MESH:D001342]
synonym: "autonomic central nervous system diseases" RELATED [MESH:D001342]
synonym: "autonomic disease" RELATED [MESH:D001342]
synonym: "autonomic diseases" RELATED [MESH:D001342]
synonym: "autonomic dysfunction, segmental" RELATED [MESH:D001342]
synonym: "autonomic dysfunctions, segmental" RELATED [MESH:D001342]
synonym: "autonomic nervous disease" EXACT [DOID:11465]
synonym: "autonomic nervous system disease" EXACT [MONDO:patterns/location]
synonym: "autonomic nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "autonomic nervous system disorder" EXACT [DOID:11465]
synonym: "autonomic nervous system disorders" RELATED [MESH:D001342]
synonym: "autonomic peripheral nervous system diseases" NARROW [MESH:D001342]
synonym: "central autonomic nervous system diseases" RELATED [MESH:D001342]
synonym: "disease of autonomic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of autonomic nervous system" EXACT []
synonym: "disorder of autonomic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of autonomic nervous system" RELATED [MONDO:patterns/location_top]
synonym: "disorder of peripheral autonomic nervous system" EXACT []
synonym: "disorders of the autonomic nervous system" RELATED [MESH:D001342]
synonym: "dysautonomia" EXACT []
synonym: "nervous system diseases, autonomic" RELATED [MESH:D001342]
synonym: "nervous system diseases, sympathetic" RELATED [MESH:D001342]
synonym: "peripheral autonomic nervous system diseases" NARROW [MESH:D001342]
synonym: "segmental autonomic dysfunction" RELATED [MESH:D001342]
synonym: "segmental autonomic dysfunctions" RELATED [MESH:D001342]
xref: COHD:434633 {source="MONDO:equivalentTo"}
xref: DOID:11465 {source="MONDO:equivalentTo"}
xref: ICD9:337.1 {source="linkedlife", source="DOID:11465"}
xref: ICD9:337.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001342 {source="MONDO:equivalentTo"}
xref: SCTID:128123007 {source="MONDO:equivalentTo"}
xref: SCTID:15241006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.47"}
is_a: MONDO:0003620 {source="DOID:11465", source="MONDO:Redundant", source="MONDOLEX:0001292"} ! peripheral nervous system disease
relationship: excluded_subClassOf MONDO:0001300 {source="linkedlife"} ! autonomic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154691
property_value: exactMatch DOID:11465
property_value: exactMatch http://identifiers.org/mesh/D001342
property_value: exactMatch http://identifiers.org/snomedct/128123007
property_value: exactMatch http://identifiers.org/snomedct/15241006

[Term]
id: MONDO:0001293
name: subglottis cancer
def: "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:P378]
synonym: "Ca larynx - subglottis" EXACT [DOID:11472]
synonym: "cancer of subglottis" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of subglottis" EXACT [MONDO:patterns/cancer, NCIT:C3546]
synonym: "malignant neoplasm of the subglottis" EXACT [NCIT:C3546]
synonym: "malignant subglottic neoplasm" EXACT [NCIT:C3546]
synonym: "malignant subglottic tumor" EXACT [DOID:11472, NCIT:C3546]
synonym: "malignant subglottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3546]
synonym: "malignant subglottis tumor" EXACT [NCIT:C3546]
synonym: "malignant tumor of subglottis" EXACT [NCIT:C3546]
synonym: "malignant tumor of the subglottis" EXACT [NCIT:C3546]
synonym: "subglottis cancer" EXACT [MONDO:patterns/location]
xref: DOID:11472 {source="MONDO:equivalentTo"}
xref: ICD10:C32.2 {source="MONDO:equivalentTo", source="DOID:11472"}
xref: ICD9:161.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11472"}
xref: NCIT:C3546 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.67/0.23", source="DOID:11472"}
xref: SCTID:363430007 {source="MONDO:kboom-pr-0.97/0.92/0.79", source="MONDO:equivalentTo", source="DOID:11472"}
xref: UMLS:C0153485 {source="MONDO:equivalentTo", source="DOID:11472", source="NCIT:C3546"}
is_a: MONDO:0000933 {source="MONDO:Redundant", source="NCIT:C3546", source="OWLReasoner:2017", source="linkedlifedata"} ! subglottis neoplasm
is_a: MONDO:0002352 {source="DOID:11472", source="MONDO:Redundant", source="NCIT:C3546", source="linkedlifedata"} ! larynx cancer
property_value: closeMatch http://identifiers.org/snomedct/154483008
property_value: closeMatch http://identifiers.org/snomedct/269559002
property_value: closeMatch http://identifiers.org/snomedct/94075002
property_value: exactMatch DOID:11472
property_value: exactMatch http://identifiers.org/snomedct/363430007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153485
property_value: exactMatch NCIT:C3546

[Term]
id: MONDO:0001294
name: Horner syndrome
def: "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus . In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." [https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome]
subset: gard_rare {source="GARD:0006670"}
synonym: "Bernard Horner syndrome" EXACT [CSP2005:1114-9021, DOID:11486]
synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670]
synonym: "cervical sympathetic paralysis" EXACT [DOID:11486]
synonym: "Horner syndrome" EXACT [DOID:11486]
synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "oculosympathetic palsy" RELATED [GARD:0006670]
xref: DOID:11486 {source="MONDO:equivalentTo"}
xref: GARD:0006670 {source="MONDO:equivalentTo"}
xref: ICD10:G90.2 {source="DOID:11486"}
xref: ICD9:337.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006732 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11486"}
xref: NCIT:C28155 {source="MONDO:equivalentTo", source="DOID:11486", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:192915005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21", source="DOID:11486"}
is_a: MONDO:0001300 {source="DOID:11486", source="linkedlifedata", source="linkedlifedata/inferred"} ! autonomic neuropathy
property_value: closeMatch http://identifiers.org/snomedct/12731000
property_value: closeMatch http://identifiers.org/snomedct/192922002
property_value: closeMatch http://identifiers.org/snomedct/271730003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019937
property_value: exactMatch DOID:11486
property_value: exactMatch http://identifiers.org/mesh/D006732
property_value: exactMatch http://identifiers.org/snomedct/192915005
property_value: exactMatch NCIT:C28155
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome xsd:anyURI {source="GARD:0006670"}

[Term]
id: MONDO:0001295
name: idiopathic peripheral autonomic neuropathy
xref: COHD:194913 {source="MONDO:equivalentTo"}
xref: DOID:11488 {source="MONDO:equivalentTo"}
xref: ICD10:G90.0 {source="MONDO:equivalentTo", source="DOID:11488"}
xref: ICD10:G90.09 {source="DOID:11488"}
xref: ICD9:337.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11488"}
xref: ICD9:337.00 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:86489003 {source="MONDO:equivalentTo", source="DOID:11488", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154690 {source="MONDO:equivalentTo", source="DOID:11488"}
is_a: MONDO:0001292 {source="DOID:11488", source="linkedlifedata", source="linkedlifedata/inferred"} ! autonomic nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/192914009
property_value: closeMatch http://identifiers.org/snomedct/192916006
property_value: exactMatch DOID:11488
property_value: exactMatch http://identifiers.org/snomedct/86489003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154690

[Term]
id: MONDO:0001296
name: acquired night blindness
def: "An instance of night blindness that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired night blindness" EXACT [MONDO:patterns/acquired]
xref: COHD:376978 {source="MONDO:equivalentTo"}
xref: DOID:11491 {source="MONDO:equivalentTo"}
xref: ICD10:H53.62 {source="DOID:11491", source="MONDO:equivalentTo"}
xref: ICD9:368.62 {source="DOID:11491", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:53808001 {source="DOID:11491", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004588 {source="ICD10:H53.62", source="MONDO:Redundant", source="MONDOLEX:0001296", source="OWLReasoner:2017", source="linkedlifedata"} ! night blindness
is_a: MONDO:0006873 {source="DOID:11491"} ! nutritional deficiency disease
intersection_of: MONDO:0004588 ! night blindness
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152202
property_value: exactMatch DOID:11491
property_value: exactMatch http://identifiers.org/snomedct/53808001

[Term]
id: MONDO:0001297
name: cardiac tamponade
def: "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." [NCIT:P378]
synonym: "pericardial tamponade" EXACT [DOID:115]
synonym: "rose's tamponade" EXACT [CSP2005:1393-3373, DOID:115]
xref: COHD:318450 {source="MONDO:equivalentTo"}
xref: DOID:115 {source="MONDO:equivalentTo"}
xref: EFO:1001285 {source="MONDO:equivalentTo"}
xref: ICD10:I31.4 {source="DOID:115", source="MONDO:equivalentTo"}
xref: ICD9:423.3 {source="DOID:115", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002305 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50481 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:35304003 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0007177 {source="DOID:115", source="MONDO:equivalentTo", source="NCIT:C50481"}
is_a: MONDO:0001370 {source="DOID:115"} ! pericardial effusion (disease)
property_value: closeMatch http://identifiers.org/snomedct/155341007
property_value: closeMatch http://identifiers.org/snomedct/194975004
property_value: closeMatch http://identifiers.org/snomedct/266295005
property_value: exactMatch DOID:115
property_value: exactMatch http://identifiers.org/mesh/D002305
property_value: exactMatch http://identifiers.org/snomedct/35304003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007177
property_value: exactMatch NCIT:C50481

[Term]
id: MONDO:0001298
name: congenital mitral valve insufficiency
def: "Dysfunction of the mitral valve characterized by incomplete valve closure." [NCIT:P378]
synonym: "congenital insufficiency of mitral valve" EXACT []
synonym: "congenital mitral insufficiency" EXACT [DOID:11502]
synonym: "congenital mitral regurgitation" EXACT [DOID:11502]
synonym: "insufficiency, mitral" EXACT [NCIT:C50888]
synonym: "mitral insufficiency" EXACT [NCIT:C50888]
synonym: "mitral regurgitation" EXACT [CSP2005:1393-3923, DOID:11502]
synonym: "mitral valve incompetence" EXACT [DOID:11502]
synonym: "mitral valve insufficiency" RELATED [DOID:11502]
xref: DOID:11502 {source="MONDO:equivalentTo"}
xref: ICD10:Q23.3 {source="DOID:11502"}
xref: ICD9:396.3 {source="DOID:11502"}
xref: ICD9:746.6 {source="DOID:11502", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008944 {source="DOID:11502", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50888 {source="DOID:11502", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.20"}
xref: SCTID:29928006 {source="DOID:11502", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.35"}
xref: UMLS:C0158619 {source="MEDGEN:kboom-pr97-c98", source="DOID:11502", source="MONDO:equivalentTo"}
is_a: MONDO:0003767 {source="DOID:11502", source="NCIT:C50888", source="linkedlifedata/inferred"} ! mitral valve disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://identifiers.org/snomedct/194736003
property_value: closeMatch http://identifiers.org/snomedct/194977007
property_value: closeMatch http://identifiers.org/snomedct/233857005
property_value: closeMatch http://identifiers.org/snomedct/48724000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026266
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264774
property_value: closeMatch NCIT:C50852
property_value: exactMatch DOID:11502
property_value: exactMatch http://identifiers.org/mesh/D008944
property_value: exactMatch http://identifiers.org/snomedct/29928006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158619
property_value: exactMatch NCIT:C50888

[Term]
id: MONDO:0001299
name: diabetic autonomic neuropathy
def: "Autonomic neuropathy that is caused by diabetes mellitus." [NCIT:P378]
xref: DOID:11503 {source="MONDO:equivalentTo"}
xref: ICD9:337.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27068 {source="DOID:11503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:50620007 {source="DOID:11503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0271686 {source="DOID:11503", source="NCIT:C27068", source="MONDO:equivalentTo"}
is_a: MONDO:0001300 {source="DOID:11503", source="MONDO:Redundant", source="MONDOLEX:0001299", source="NCIT:C27068", source="linkedlifedata", source="linkedlifedata/inferred"} ! autonomic neuropathy
is_a: MONDO:0006626 {source="DOID:11503", source="MONDO:Redundant", source="NCIT:C27068", source="linkedlifedata"} ! diabetic neuropathy
intersection_of: MONDO:0001300 ! autonomic neuropathy
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
property_value: exactMatch DOID:11503
property_value: exactMatch http://identifiers.org/snomedct/50620007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271686
property_value: exactMatch NCIT:C27068

[Term]
id: MONDO:0001300
name: autonomic neuropathy
def: "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." [NCIT:C27033]
synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "autonomic peripheral neuropathy" EXACT [MONDO:0000604]
synonym: "peripheral neuropathy of autonomic nervous system" EXACT [MONDO:design_pattern]
xref: CSP:2042-2001 {source="DOID:11504"}
xref: CSP:2049-9000 {source="DOID:11504"}
xref: DOID:0060054 {source="MONDO:equivalentTo"}
xref: DOID:11504 {source="MONDO:equivalentTo"}
xref: NCIT:C27033 {source="DOID:11504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:277879009 {source="DOID:11504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0259749 {source="NCIT:C27033", source="DOID:11504", source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="DOID:11504", source="MONDO:Redundant"} ! autonomic nervous system disease
is_a: MONDO:0005244 {source="DOID:0060054", source="MONDO:Redundant", source="MONDOLEX:0001300", source="NCIT:C27033", source="linkedlifedata"} ! peripheral neuropathy
property_value: exactMatch DOID:0060054
property_value: exactMatch DOID:11504
property_value: exactMatch http://identifiers.org/snomedct/277879009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259749
property_value: exactMatch NCIT:C27033

[Term]
id: MONDO:0001301
name: rumination disorder
def: "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. ." [https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder]
subset: gard_rare {source="GARD:0007594"}
synonym: "psychogenic rumination" EXACT [DOID:11507]
synonym: "rumination" EXACT [NCIT:C92567]
synonym: "rumination syndrome" RELATED [GARD:0007594]
xref: DOID:11507 {source="MONDO:equivalentTo"}
xref: GARD:0007594 {source="MONDO:equivalentTo"}
xref: ICD9:307.53 {source="DOID:11507"}
xref: MESH:D019959 {source="DOID:11507", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92567 {source="DOID:11507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:192014006 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0005451 {source="DOID:11507"} ! eating disorder
property_value: closeMatch http://identifiers.org/snomedct/37941009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154575
property_value: exactMatch DOID:11507
property_value: exactMatch http://identifiers.org/mesh/D019959
property_value: exactMatch http://identifiers.org/snomedct/192014006
property_value: exactMatch NCIT:C92567
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder xsd:anyURI {source="GARD:0007594"}

[Term]
id: MONDO:0001302
name: hypertensive heart disease
def: "Abnormal enlargement of the heart resulting from long-standing hypertension." [NCIT:C4907]
synonym: "hypertensive cardiomegaly" RELATED []
synonym: "hypertensive cardiopathy" RELATED []
synonym: "hypertensive cardiovascular disease" RELATED []
synonym: "hypertensive heart disease" EXACT []
xref: COHD:442604 {source="MONDO:equivalentTo"}
xref: DOID:11516 {source="MONDO:equivalentTo"}
xref: ICD10:I11 {source="DOID:11516"}
xref: ICD10:I11.9 {source="DOID:11516"}
xref: ICD9:402 {source="DOID:11516"}
xref: ICD9:402.9 {source="DOID:11516"}
xref: NCIT:C4907 {source="MONDO:equivalentTo"}
xref: SCTID:64715009 {source="DOID:11516", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152105 {source="DOID:11516", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:11516", source="MONDO:Redundant", source="NCIT:C4907/inferred", source="linkedlifedata"} ! heart disease
intersection_of: MONDO:0005267 ! heart disease
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
relationship: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
property_value: closeMatch http://identifiers.org/snomedct/155297007
property_value: closeMatch http://identifiers.org/snomedct/194769003
property_value: closeMatch http://identifiers.org/snomedct/194772005
property_value: exactMatch DOID:11516
property_value: exactMatch http://identifiers.org/snomedct/64715009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152105
property_value: exactMatch NCIT:C4907

[Term]
id: MONDO:0001303
name: abnormal pupillary function (disease)
synonym: "abnormal pupillary function" EXACT [MONDO:ambiguous]
xref: COHD:437295 {source="MONDO:equivalentTo"}
xref: DOID:11518 {source="MONDO:equivalentTo"}
xref: HP:0007686 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H57.09 {source="DOID:11518"}
xref: ICD9:379.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:379.49 {source="MONDO:relatedTo", source="DOID:11518", source="i2s"}
xref: SCTID:72124005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002285 {source="DOID:11518", source="linkedlifedata"} ! pupil disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155376
property_value: exactMatch DOID:11518
property_value: exactMatch http://identifiers.org/snomedct/72124005

[Term]
id: MONDO:0001304
name: benign hypertensive renal disease
synonym: "hypertensive renal disease, benign" EXACT [DOID:11520, ICD9CM_2006:403.1]
synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [DOID:11520, ICD9CM_2006:403.10]
xref: COHD:193493 {source="MONDO:equivalentTo"}
xref: DOID:11520 {source="MONDO:equivalentTo"}
xref: ICD9:403.1 {source="DOID:11520"}
xref: ICD9:403.10 {source="MONDO:equivalentTo", source="i2s", source="DOID:11520"}
xref: SCTID:193003 {source="MONDO:equivalentTo", source="DOID:11520", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155596 {source="MONDO:equivalentTo", source="DOID:11520"}
is_a: MONDO:0024633 {source="linkedlifedata"} ! hypertensive renal disease
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11520"} ! renal hypertension
property_value: exactMatch DOID:11520
property_value: exactMatch http://identifiers.org/snomedct/193003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155596

[Term]
id: MONDO:0001305
name: laryngostenosis
def: "Narrowing of the laryngeal airway." [NCIT:P378]
synonym: "stenosis of larynx" EXACT [DOID:11527]
xref: COHD:24974 {source="MONDO:equivalentTo"}
xref: DOID:11527 {source="MONDO:equivalentTo"}
xref: HP:0001602 {source="MONDO:otherHierarchy"}
xref: ICD10:J38.6 {source="DOID:11527", source="MONDO:equivalentTo"}
xref: ICD9:478.74 {source="DOID:11527", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007829 {source="DOID:11527", source="MONDO:equivalentTo"}
xref: SCTID:75547007 {source="DOID:11527", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023075 {source="DOID:11527", source="MONDO:equivalentTo"}
is_a: MONDO:0004382 {source="DOID:11527", source="MESH:D007829", source="linkedlifedata", source="linkedlifedata/inferred"} ! laryngeal disease
property_value: closeMatch http://identifiers.org/snomedct/195864007
property_value: exactMatch DOID:11527
property_value: exactMatch http://identifiers.org/mesh/D007829
property_value: exactMatch http://identifiers.org/snomedct/75547007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023075
property_value: exactMatch NCIT:C79608

[Term]
id: MONDO:0001306
name: recurrent corneal erosion
comment: Editor note: consider obsoleting as is a finding
synonym: "recurrent erosion of cornea" EXACT [DOID:11541, ICD9CM_2006:371.42]
synonym: "recurrent erosion syndrome" EXACT [DOID:11541]
xref: COHD:374946 {source="MONDO:equivalentTo"}
xref: DOID:11541 {source="MONDO:equivalentTo"}
xref: HP:0000495 {source="MONDO:otherHierarchy"}
xref: ICD10:H18.83 {source="DOID:11541"}
xref: ICD9:371.42 {source="MONDO:equivalentTo", source="i2s", source="DOID:11541"}
xref: SCTID:2055003 {source="MONDO:equivalentTo", source="DOID:11541", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155119 {source="MONDO:equivalentTo", source="DOID:11541"}
is_a: MONDO:0001515 {source="DOID:11541"} ! corneal degeneration
property_value: closeMatch http://identifiers.org/snomedct/155157003
property_value: closeMatch http://identifiers.org/snomedct/267732003
property_value: exactMatch DOID:11541
property_value: exactMatch http://identifiers.org/snomedct/2055003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155119

[Term]
id: MONDO:0001307
name: corneal abscess
def: "An abscess of the cornea." [NCIT:P378]
comment: Editor note: consider placing in HPO
xref: DOID:11543 {source="MONDO:equivalentTo"}
xref: ICD10:H16.31 {source="DOID:11543"}
xref: ICD9:370.55 {source="MONDO:equivalentTo", source="i2s", source="DOID:11543"}
xref: NCIT:C26969 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11543"}
xref: SCTID:64366002 {source="MONDO:equivalentTo", source="DOID:11543", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155091 {source="MONDO:equivalentTo", source="DOID:11543", source="NCIT:C26969"}
is_a: MONDO:0004903 {source="DOID:11543"} ! deep keratitis
is_a: MONDO:0005227 {source="NCIT:C26969", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess
is_a: MONDO:0023865 ! corneal infection
property_value: exactMatch DOID:11543
property_value: exactMatch http://identifiers.org/snomedct/64366002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155091
property_value: exactMatch NCIT:C26969

[Term]
id: MONDO:0001308
name: corneal deposit
comment: Editor note: consider placing in HPO
synonym: "deposits - cornea" EXACT [DOID:11547]
xref: COHD:377288 {source="MONDO:equivalentTo"}
xref: DOID:11547 {source="MONDO:equivalentTo"}
xref: ICD10:H18.0 {source="MONDO:equivalentTo"}
xref: ICD10:H18.00 {source="DOID:11547"}
xref: ICD9:371.10 {source="DOID:11547", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:74460005 {source="DOID:11547", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0162281 {source="DOID:11547", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:11547", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal disease
property_value: closeMatch http://identifiers.org/snomedct/193803001
property_value: closeMatch http://identifiers.org/snomedct/193804007
property_value: exactMatch DOID:11547
property_value: exactMatch http://identifiers.org/snomedct/74460005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162281

[Term]
id: MONDO:0001309
name: oculomotor nerve paralysis
def: "Paralysis of the oculomotor nerve." [NCIT:C27597]
subset: ordo_group_of_disorders {source="Orphanet:98685"}
synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern]
synonym: "III nerve palsy" EXACT [DOID:11550]
synonym: "IIIrd nerve paralysis" EXACT [DOID:11550, NCIT:C27597]
synonym: "oculomotor nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve paralysis" EXACT []
synonym: "oculomotor palsy" EXACT [MONDO:0020255]
synonym: "third cranial nerve paralysis" EXACT [DOID:11550]
synonym: "third cranial nerve paralysis, NOS" RELATED EXCLUDE [DOID:11550]
xref: DOID:11550 {source="MONDO:equivalentTo"}
xref: ICD10:H49.0 {source="DOID:11550"}
xref: NCIT:C27597 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11550"}
xref: Orphanet:98685 {source="MONDO:equivalentTo"}
xref: SCTID:388980004 {source="MONDO:equivalentTo", source="DOID:11550", source="MONDO:kboom-pr-1.00/0.80/9.21"}
xref: UMLS:C0028866 {source="NCIT:C27597", source="MONDO:equivalentTo", source="DOID:11550"}
is_a: MONDO:0002782 {source="MONDO:Redundant", source="NCIT:C27597"} ! cranial nerve palsy
is_a: MONDO:0003546 {source="DOID:11550", source="MONDO:Redundant", source="NCIT:C27597", source="linkedlifedata"} ! third cranial nerve disease
is_a: MONDO:0015368 {source="Orphanet:98685"} ! neuro-ophthalmological disease
property_value: closeMatch http://identifiers.org/snomedct/12900003
property_value: closeMatch http://identifiers.org/snomedct/30764004
property_value: exactMatch DOID:11550
property_value: exactMatch http://identifiers.org/snomedct/388980004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028866
property_value: exactMatch NCIT:C27597
property_value: exactMatch Orphanet:98685

[Term]
id: MONDO:0001310
name: Bowman's membrane folds or rupture
synonym: "Bowman membrane folds or rupture" EXACT [DOID:11552]
synonym: "folds and/or rupture of bowman's membrane" EXACT []
xref: DOID:11552 {source="MONDO:equivalentTo"}
xref: ICD10:H18.31 {source="DOID:11552"}
xref: ICD9:371.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:11552"}
xref: SCTID:45382000 {source="MONDO:equivalentTo", source="DOID:11552"}
xref: UMLS:C0155115 {source="MONDO:equivalentTo", source="DOID:11552"}
is_a: MONDO:0000942 {source="DOID:11552", source="linkedlifedata"} ! corneal disease
property_value: closeMatch http://identifiers.org/snomedct/193820002
property_value: exactMatch DOID:11552
property_value: exactMatch http://identifiers.org/snomedct/45382000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155115

[Term]
id: MONDO:0001311
name: obsolete Chandler syndrome
is_obsolete: true
replaced_by: MONDO:0020369

[Term]
id: MONDO:0001312
name: acute serous otitis media
def: "A acute transudative otitis media with thin, watery and sterile effusion." [DOID:11557, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
synonym: "acute non-suppurative otitis media - serous" EXACT [DOID:11557]
xref: COHD:375827 {source="MONDO:equivalentTo"}
xref: DOID:11557 {source="MONDO:equivalentTo"}
xref: ICD10:H65.0 {source="DOID:11557", source="MONDO:equivalentTo"}
xref: ICD10:H65.00 {source="DOID:11557"}
xref: ICD9:381.01 {source="DOID:11557", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:194240006 {source="DOID:11557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155415 {source="DOID:11557", source="MONDO:equivalentTo"}
is_a: MONDO:0002738 {source="DOID:11557", source="MONDOLEX:0001312", source="linkedlifedata"} ! acute transudative otitis media
property_value: closeMatch http://identifiers.org/snomedct/11957006
property_value: exactMatch DOID:11557
property_value: exactMatch http://identifiers.org/snomedct/194240006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155415

[Term]
id: MONDO:0001313
name: acute allergic serous otitis media
def: "A acute serous otitis media caused by an allergen." [DOID:11558, PMID:15301306]
xref: COHD:373784 {source="MONDO:equivalentTo"}
xref: DOID:11558 {source="MONDO:equivalentTo"}
xref: ICD9:381.04 {source="DOID:11558", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:59275002 {source="DOID:11558", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155418 {source="DOID:11558", source="MONDO:equivalentTo"}
is_a: MONDO:0001312 {source="DOID:11558", source="linkedlifedata"} ! acute serous otitis media
is_a: MONDO:0021202 {source="linkedlifedata"} ! allergic otitis media
property_value: closeMatch http://identifiers.org/snomedct/194241005
property_value: exactMatch DOID:11558
property_value: exactMatch http://identifiers.org/snomedct/59275002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155418

[Term]
id: MONDO:0001314
name: chondrocalcinosis
def: "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." [NCIT:P378]
synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156]
synonym: "pseudogout" EXACT [DOID:1156]
xref: COHD:437064 {source="MONDO:equivalentTo"}
xref: DOID:1156 {source="MONDO:equivalentTo"}
xref: HP:0000934 {source="DOID:1156", source="MONDO:otherHierarchy"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:712.1 {source="DOID:1156"}
xref: MESH:D002805 {source="DOID:1156", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34955 {source="DOID:1156", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:239832006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.74/0.41"}
is_a: MONDO:0005066 {source="NCIT:C34955"} ! metabolic disease
is_a: MONDO:0005578 {source="DOID:1156", source="MESH:D002805", source="NCIT:C34955"} ! arthritis
property_value: closeMatch http://identifiers.org/snomedct/156881000
property_value: closeMatch http://identifiers.org/snomedct/201624004
property_value: closeMatch http://identifiers.org/snomedct/201625003
property_value: closeMatch http://identifiers.org/snomedct/201636005
property_value: closeMatch http://identifiers.org/snomedct/239834007
property_value: closeMatch http://identifiers.org/snomedct/268142006
property_value: closeMatch http://identifiers.org/snomedct/60782007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033802
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157852
property_value: exactMatch DOID:1156
property_value: exactMatch http://identifiers.org/mesh/D002805
property_value: exactMatch http://identifiers.org/snomedct/239832006
property_value: exactMatch NCIT:C34955

[Term]
id: MONDO:0001315
name: neurocirculatory asthenia
def: "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder." [MESH:D009449]
synonym: "cardiovascular malfunction arising from mental factors" EXACT [DOID:11569, ICD9CM_2006:306.2]
synonym: "cardiovascular neurosis" EXACT [DOID:11569, MTHICD9_2006:306.2]
synonym: "Da Costa's syndrome" EXACT [DOID:11569]
synonym: "Krishaber's disease" EXACT [DOID:11569]
xref: COHD:433177 {source="MONDO:equivalentTo"}
xref: DOID:11569 {source="MONDO:equivalentTo"}
xref: ICD9:306.2 {source="DOID:11569", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009449 {source="DOID:11569", source="MONDO:equivalentTo"}
xref: SCTID:191962000 {source="DOID:11569", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.14"}
is_a: MONDO:0003117 {source="DOID:11569", source="linkedlifedata", source="linkedlifedata/inferred"} ! somatoform disorder
is_a: MONDO:0005618 {source="MESH:D009449"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/snomedct/154922007
property_value: closeMatch http://identifiers.org/snomedct/191960008
property_value: closeMatch http://identifiers.org/snomedct/191961007
property_value: closeMatch http://identifiers.org/snomedct/191963005
property_value: closeMatch http://identifiers.org/snomedct/192434000
property_value: closeMatch http://identifiers.org/snomedct/46219009
property_value: closeMatch http://identifiers.org/snomedct/72994002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027821
property_value: exactMatch DOID:11569
property_value: exactMatch http://identifiers.org/mesh/D009449
property_value: exactMatch http://identifiers.org/snomedct/191962000

[Term]
id: MONDO:0001316
name: streptococcal meningitis
def: "An infectious meningitis caused by infection with Streptococcus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus infectious meningitis" EXACT []
xref: COHD:440390 {source="MONDO:equivalentTo"}
xref: DOID:11574 {source="MONDO:equivalentTo"}
xref: ICD10:G00.2 {source="MONDO:equivalentTo", source="DOID:11574"}
xref: ICD9:320.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11574"}
xref: SCTID:4510004 {source="MONDO:equivalentTo", source="DOID:11574", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154639 {source="MONDO:equivalentTo", source="DOID:11574"}
is_a: MONDO:0006670 {source="DOID:11574", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial meningitis
is_a: MONDO:0021680 ! streptococcal infection
property_value: exactMatch DOID:11574
property_value: exactMatch http://identifiers.org/snomedct/4510004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154639

[Term]
id: MONDO:0001317
name: phlyctenulosis
synonym: "Phlyctenular keratoconjunctivitis" EXACT [DOID:11581]
synonym: "strumous ophthalmia" EXACT [DOID:11581]
xref: COHD:377287 {source="MONDO:equivalentTo"}
xref: DOID:11581 {source="MONDO:equivalentTo"}
xref: ICD10:H16.25 {source="DOID:11581"}
xref: ICD9:370.31 {source="MONDO:equivalentTo", source="DOID:11581", source="i2s"}
xref: SCTID:67895005 {source="MONDO:equivalentTo", source="DOID:11581", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155080 {source="MONDO:equivalentTo", source="DOID:11581"}
is_a: MONDO:0004768 {source="DOID:11581", source="MONDOLEX:0001317", source="linkedlifedata"} ! keratoconjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193773009
property_value: exactMatch DOID:11581
property_value: exactMatch http://identifiers.org/snomedct/67895005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155080

[Term]
id: MONDO:0001318
name: functional gastric disease
synonym: "disorder of function of stomach" EXACT []
synonym: "disorder of gastric function" RELATED []
synonym: "disorder of stomach function" RELATED []
synonym: "functional gastric disorder" RELATED []
synonym: "functional gastric disturbance" RELATED []
xref: DOID:1159 {source="MONDO:equivalentTo"}
xref: ICD9:306.4 {source="linkedlifedata"}
xref: ICD9:536.8 {source="DOID:1159", source="linkedlifedata"}
xref: ICD9:536.9 {source="linkedlifedata"}
xref: SCTID:150541000119104 {source="MONDO:equivalentTo"}
xref: SCTID:386211005 {source="MONDO:equivalentTo"}
is_a: MONDO:0004298 {source="DOID:1159", source="MONDO:Redundant", source="linkedlifedata"} ! stomach disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013396
property_value: exactMatch DOID:1159
property_value: exactMatch http://identifiers.org/snomedct/150541000119104
property_value: exactMatch http://identifiers.org/snomedct/386211005

[Term]
id: MONDO:0001319
name: bladder lateral wall cancer
synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [DOID:11593, ICD9CM_2006:188.2]
xref: COHD:73153 {source="MONDO:equivalentTo"}
xref: DOID:11593 {source="MONDO:equivalentTo"}
xref: ICD10:C67.2 {source="DOID:11593"}
xref: ICD9:188.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11593"}
xref: SCTID:188241004 {source="MONDO:equivalentTo", source="DOID:11593", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0496828 {source="MONDO:equivalentTo", source="DOID:11593"}
is_a: MONDO:0001187 {source="DOID:11593", source="linkedlifedata"} ! urinary bladder cancer
property_value: closeMatch http://identifiers.org/snomedct/93863000
property_value: exactMatch DOID:11593
property_value: exactMatch http://identifiers.org/snomedct/188241004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496828
property_value: exactMatch NCIT:C12333
property_value: excluded_synonym "Lateral Wall of bladder" xsd:string {source="DOID:11593"}

[Term]
id: MONDO:0001320
name: ring staphyloma
comment: Editor note: consider placing in HPO
xref: DOID:11594 {source="MONDO:equivalentTo"}
xref: ICD10:H15.85 {source="DOID:11594"}
xref: ICD9:379.15 {source="MONDO:equivalentTo", source="i2s", source="DOID:11594"}
xref: SCTID:5299007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11594"}
xref: UMLS:C0155363 {source="MONDO:equivalentTo", source="DOID:11594"}
is_a: MONDO:0001321 {source="DOID:11594", source="linkedlifedata", source="linkedlifedata/inferred"} ! scleral staphyloma (disease)
property_value: exactMatch DOID:11594
property_value: exactMatch http://identifiers.org/snomedct/5299007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155363

[Term]
id: MONDO:0001321
name: scleral staphyloma (disease)
comment: Editor note: consider obsoleting as is finding
synonym: "scleral ectasia" EXACT [DOID:11595, ICD9CM_2006:379.11]
synonym: "scleral staphyloma" EXACT [MONDO:ambiguous]
xref: COHD:436133 {source="MONDO:equivalentTo"}
xref: DOID:11595 {source="MONDO:equivalentTo"}
xref: HP:0030854 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H15.84 {source="DOID:11595"}
xref: ICD9:379.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:11595"}
xref: SCTID:111534007 {source="MONDO:equivalentTo", source="DOID:11595", source="MONDO:kboom-pr-1.00/0.81/10.38"}
xref: UMLS:C0155359 {source="MONDO:equivalentTo", source="DOID:11595"}
is_a: MONDO:0001269 {source="DOID:11595", source="linkedlifedata"} ! scleral disease
property_value: exactMatch DOID:11595
property_value: exactMatch http://identifiers.org/snomedct/111534007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155359

[Term]
id: MONDO:0001322
name: pericardium cancer
def: "A malignant neoplasm involving the pericardium." [MONDO:DesignPattern]
synonym: "cancer of pericardium" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pericardium" EXACT [DOID:116, MONDO:patterns/cancer, NCIT:C4567]
synonym: "malignant neoplasm of the pericardium" EXACT [NCIT:C4567]
synonym: "malignant pericardial neoplasm" EXACT [NCIT:C4567]
synonym: "malignant pericardial tumor" EXACT [NCIT:C4567]
synonym: "malignant pericardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pericardium" EXACT [DOID:116, NCIT:C4567]
synonym: "malignant tumor of the pericardium" EXACT [NCIT:C4567]
synonym: "pericardial tumor" EXACT [DOID:116, NCIT:C4651]
synonym: "pericardium cancer" EXACT [MONDO:patterns/location]
xref: DOID:116 {source="MONDO:equivalentTo"}
xref: ICD10:C38.0 {source="DOID:116"}
xref: NCIT:C4567 {source="DOID:116", source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0346609 {source="DOID:116", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4567"}
is_a: MONDO:0001340 {source="DOID:116", source="NCIT:C4567"} ! heart cancer
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C4567"} ! neoplasm of pericardium
property_value: closeMatch http://identifiers.org/snomedct/187884007
property_value: closeMatch http://identifiers.org/snomedct/93957005
property_value: closeMatch http://identifiers.org/snomedct/94997003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349574
property_value: exactMatch DOID:116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346609
property_value: exactMatch NCIT:C4567

[Term]
id: MONDO:0001323
name: infant gynecomastia
def: "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." [NCIT:P378]
synonym: "breast engorgement in newborn" EXACT [DOID:11603, ICD9CM_2006:778.7]
synonym: "neonatal gynaecomastia" EXACT [DOID:11603]
xref: COHD:73019 {source="MONDO:equivalentTo"}
xref: DOID:11603 {source="MONDO:equivalentTo"}
xref: ICD10:P83.4 {source="DOID:11603", source="MONDO:equivalentTo"}
xref: ICD9:778.7 {source="DOID:11603", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:34831003 {source="DOID:11603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1449721 {source="DOID:11603", source="MONDO:equivalentTo"}
is_a: MONDO:0001571 ! gynecomastia
property_value: closeMatch http://identifiers.org/snomedct/157159001
property_value: exactMatch DOID:11603
property_value: exactMatch http://identifiers.org/snomedct/34831003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449721
property_value: exactMatch NCIT:C117312

[Term]
id: MONDO:0001324
name: hyperandrogenism
def: "A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." [MESH:D017588]
synonym: "hyperandrogenization syndrome" EXACT [DOID:11613]
xref: DOID:11613 {source="MONDO:equivalentTo"}
xref: EFO:0009006 {source="MONDO:equivalentTo"}
xref: MESH:D017588 {source="DOID:11613", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:237793004 {source="DOID:11613", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0206081 {source="DOID:11613", source="MONDO:equivalentTo"}
is_a: MONDO:0002145 {source="DOID:11613", source="MESH:D017588/inferred"} ! sex differentiation disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015898 {source="MESH:D017588"} ! adrenogenital syndrome
relationship: disease_has_feature MONDO:0011438 {source="Wikidata"} ! acne (disease)
property_value: exactMatch DOID:11613
property_value: exactMatch http://identifiers.org/mesh/D017588
property_value: exactMatch http://identifiers.org/snomedct/237793004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206081

[Term]
id: MONDO:0001325
name: penile cancer
def: "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." [NCIT:C7547]
subset: ordo_group_of_disorders {source="Orphanet:398043"}
synonym: "Ca penis" EXACT [DOID:11615]
synonym: "cancer of penis" EXACT [MONDO:patterns/cancer, Orphanet:398043]
synonym: "malignant neoplasm of body of penis" EXACT [DOID:11615]
synonym: "malignant neoplasm of penis" EXACT [MONDO:patterns/cancer, NCIT:C7547]
synonym: "malignant neoplasm of the penis" EXACT [NCIT:C7547]
synonym: "malignant penile neoplasm" EXACT [NCIT:C7547]
synonym: "malignant penile tumor" EXACT [DOID:11615, NCIT:C7547, Orphanet:398043]
synonym: "malignant penis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547]
synonym: "malignant tumor of the penis" EXACT [NCIT:C7547]
synonym: "penile Ca" EXACT [DOID:11615]
synonym: "penile cancer" EXACT [Orphanet:398043]
synonym: "penile neoplasm" BROAD [DOID:11615]
synonym: "penis cancer" EXACT [MONDO:patterns/location]
xref: DOID:11615 {source="MONDO:equivalentTo"}
xref: ICD10:C60 {source="DOID:11615"}
xref: ICD10:C60.0 {source="ORDO:398043/ntbt", source="Orphanet:398043"}
xref: ICD10:C60.1 {source="ORDO:398043/ntbt", source="Orphanet:398043"}
xref: ICD10:C60.2 {source="DOID:11615", source="ORDO:398043/ntbt", source="Orphanet:398043"}
xref: ICD10:C60.8 {source="ORDO:398043/ntbt", source="Orphanet:398043"}
xref: ICD10:C60.9 {source="DOID:11615", source="ORDO:398043/ntbt", source="Orphanet:398043"}
xref: ICD9:187.3 {source="DOID:11615"}
xref: ICD9:187.4 {source="DOID:11615", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7547 {source="DOID:11615", source="MONDO:equivalentTo"}
xref: Orphanet:398043 {source="MONDO:equivalentTo"}
xref: SCTID:363516004 {source="DOID:11615", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.74/1.20"}
xref: UMLS:CN226091 {source="MONDO:equivalentTo"}
is_a: MONDO:0005836 {source="DOID:11615", source="MONDO:Redundant", source="NCIT:C7547"} ! male reproductive organ cancer
is_a: MONDO:0006895 {source="MONDO:Redundant", source="NCIT:C7547", source="linkedlifedata"} ! penile neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015931"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154536009
property_value: closeMatch http://identifiers.org/snomedct/188230001
property_value: closeMatch http://identifiers.org/snomedct/188231002
property_value: closeMatch http://identifiers.org/snomedct/269605006
property_value: closeMatch http://identifiers.org/snomedct/93716006
property_value: closeMatch http://identifiers.org/snomedct/93954003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153600
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153601
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0853105
property_value: exactMatch DOID:11615
property_value: exactMatch http://identifiers.org/snomedct/363516004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226091
property_value: exactMatch NCIT:C7547
property_value: exactMatch Orphanet:398043

[Term]
id: MONDO:0001326
name: dental pulp necrosis
def: "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." [MESH:D003790]
synonym: "necrosis of pulp" EXACT []
synonym: "necrosis of the pulp" EXACT [DOID:11623, ICD9CM_2006:522.1]
synonym: "necrotic pulp" EXACT [DOID:11623]
synonym: "pulp necrosis" EXACT [DOID:11623]
xref: COHD:437590 {source="MONDO:equivalentTo"}
xref: DOID:11623 {source="MONDO:equivalentTo"}
xref: ICD10:K04.1 {source="DOID:11623", source="MONDO:equivalentTo"}
xref: ICD9:522.1 {source="DOID:11623", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003790 {source="DOID:11623", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:42711005 {source="DOID:11623", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011407 {source="DOID:11623", source="MONDO:equivalentTo"}
is_a: MONDO:0003394 {source="DOID:11623", source="MESH:D003790", source="linkedlifedata"} ! dental pulp disease
property_value: closeMatch http://identifiers.org/snomedct/196332000
property_value: closeMatch http://identifiers.org/snomedct/196334004
property_value: exactMatch DOID:11623
property_value: exactMatch http://identifiers.org/mesh/D003790
property_value: exactMatch http://identifiers.org/snomedct/42711005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011407

[Term]
id: MONDO:0001327
name: pelvic muscle wasting
xref: DOID:11629 {source="MONDO:equivalentTo"}
xref: ICD10:N81.84 {source="MONDO:equivalentTo", source="DOID:11629"}
xref: ICD9:618.83 {source="DOID:11629"}
is_a: MONDO:0001592 {source="DOID:11629", source="ICD10:N81.84", source="ICD10:N81.84/inferred"} ! prolapse of female genital organ
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456255
property_value: exactMatch DOID:11629

[Term]
id: MONDO:0001328
name: thyroid hormone resistance syndrome
def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." [MESH:D018382-modified]
synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633]
synonym: "Refetoff syndrome" EXACT EXCLUDE [DOID:11633]
synonym: "resistance to thyroid stimulating hormone" RELATED []
synonym: "resistance to thyrotropin" RELATED []
synonym: "RTH" RELATED [doi:10.1210/jcem.84.2.5534]
synonym: "thyroid hormone resistance" EXACT [CSP2005:2928-9974, CSP2005:4008-0047, DOID:11633]
synonym: "thyroid hormone resistance syndrome" EXACT []
synonym: "thyroid hormone responsiveness defect" EXACT [DOID:11633]
synonym: "TSH resistance" RELATED []
xref: DOID:11633 {source="MONDO:equivalentTo"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018382 {source="DOID:11633", source="MONDO:equivalentTo"}
xref: SCTID:111567006 {source="DOID:11633", source="MONDO:equivalentTo"}
xref: UMLS:CN118820 {source="MONDO:equivalentTo"}
is_a: MONDO:0045046 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited thyroid metabolism disease
relationship: disease_has_feature MONDO:0005333 {source="MESH:D018382"} ! hyperthyroxinemia
relationship: excluded_subClassOf MONDO:0005420 {source="DOID:11633"} ! hypothyroidism
property_value: closeMatch http://identifiers.org/snomedct/237559000
property_value: closeMatch http://identifiers.org/snomedct/237560005
property_value: closeMatch http://identifiers.org/snomedct/50375007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2940786
property_value: exactMatch DOID:11633
property_value: exactMatch http://identifiers.org/mesh/D018382
property_value: exactMatch http://identifiers.org/snomedct/111567006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118820

[Term]
id: MONDO:0001329
name: accommodative spasm
synonym: "spasm of accommodation" EXACT [DOID:11637, ICD9CM_2006:367.53]
xref: DOID:11637 {source="MONDO:equivalentTo"}
xref: ICD10:H52.53 {source="DOID:11637"}
xref: ICD9:367.53 {source="DOID:11637", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:30069002 {source="DOID:11637", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
xref: UMLS:C0152196 {source="DOID:11637", source="MONDO:equivalentTo"}
is_a: MONDO:0000926 {source="DOID:11637", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye accommodation disease
property_value: exactMatch DOID:11637
property_value: exactMatch http://identifiers.org/snomedct/30069002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152196

[Term]
id: MONDO:0001330
name: presbyopia
def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305]
xref: COHD:373478 {source="MONDO:equivalentTo"}
xref: DOID:11638 {source="MONDO:equivalentTo"}
xref: ICD10:H52.4 {source="MONDO:equivalentTo", source="DOID:11638"}
xref: ICD9:367.4 {source="MONDO:equivalentTo", source="DOID:11638", source="i2s"}
xref: MESH:D011305 {source="MONDO:equivalentTo", source="DOID:11638", source="MONDO:ontobio"}
xref: SCTID:41256004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11638"}
xref: UMLS:C0033075 {source="MONDO:equivalentTo", source="DOID:11638"}
is_a: MONDO:0000926 {source="DOID:11638", source="linkedlifedata"} ! eye accommodation disease
is_a: MONDO:0004892 {source="DOID:11638", source="MESH:D011305"} ! refractive error
property_value: closeMatch http://identifiers.org/snomedct/155135005
property_value: exactMatch DOID:11638
property_value: exactMatch http://identifiers.org/mesh/D011305
property_value: exactMatch http://identifiers.org/snomedct/41256004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033075

[Term]
id: MONDO:0001331
name: conjunctival deposit
xref: DOID:11653 {source="MONDO:equivalentTo"}
xref: ICD10:H11.11 {source="DOID:11653"}
xref: ICD9:372.56 {source="MONDO:equivalentTo", source="i2s", source="DOID:11653"}
xref: SCTID:62660000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11653"}
xref: UMLS:C0162280 {source="MONDO:equivalentTo", source="DOID:11653"}
is_a: MONDO:0006170 {source="DOID:11653", source="linkedlifedata"} ! conjunctival disorder
property_value: exactMatch DOID:11653
property_value: exactMatch http://identifiers.org/snomedct/62660000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162280

[Term]
id: MONDO:0001332
name: palindromic rheumatism
def: "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms." [DOID:1166, http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, http://en.wikipedia.org/wiki/Palindromic_rheumatism, http://www.palindromicrheumatism.org/]
synonym: "Hench's syndrome" EXACT [DOID:1166]
synonym: "Hench-Rosenberg syndrome" EXACT [DOID:1166]
xref: COHD:76196 {source="MONDO:equivalentTo"}
xref: DOID:1166 {source="MONDO:equivalentTo"}
xref: GARD:0007304 {source="MONDO:equivalentTo"}
xref: ICD10:M12.3 {source="DOID:1166", source="MONDO:equivalentTo"}
xref: ICD10:M12.30 {source="DOID:1166"}
xref: ICD9:719.3 {source="DOID:1166"}
xref: ICD9:719.30 {source="DOID:1166", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:719.31 {source="DOID:1166"}
xref: ICD9:719.32 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.33 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.36 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.38 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538103 {source="DOID:1166", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:50442003 {source="DOID:1166", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.85"}
xref: UMLS:C0085574 {source="DOID:1166", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:1166", source="MONDOLEX:0001332"} ! syndromic disease
is_a: MONDO:0003366 {source="linkedlifedata"} ! hydrarthrosis
is_a: MONDO:0005554 {source="MESH:C538103/inferred", source="MONDOLEX:0001332", source="linkedlifedata"} ! rheumatologic disorder
property_value: closeMatch http://identifiers.org/snomedct/202455001
property_value: closeMatch http://identifiers.org/snomedct/202456000
property_value: closeMatch http://identifiers.org/snomedct/202457009
property_value: closeMatch http://identifiers.org/snomedct/202466008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158178
property_value: exactMatch DOID:1166
property_value: exactMatch http://identifiers.org/mesh/C538103
property_value: exactMatch http://identifiers.org/snomedct/50442003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085574

[Term]
id: MONDO:0001333
name: obsolete Patau syndrome
is_obsolete: true
replaced_by: MONDO:0018068

[Term]
id: MONDO:0001334
name: hypertrichosis of eyelid
def: "A hypertrichosis (disease) that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid hypertrichosis (disease)" EXACT [MONDO:patterns/location]
synonym: "hypertrichosis (disease) of eyelid" EXACT []
xref: DOID:11669 {source="MONDO:equivalentTo"}
xref: ICD10:H02.86 {source="DOID:11669"}
xref: ICD9:374.54 {source="DOID:11669", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:79830009 {source="DOID:11669", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155213 {source="DOID:11669", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 ! eyelid disease
is_a: MONDO:0019280 {source="DOID:11669", source="MONDO:Redundant", source="linkedlifedata"} ! hypertrichosis (disease)
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11669"} ! eyelid degenerative disease
property_value: exactMatch DOID:11669
property_value: exactMatch http://identifiers.org/snomedct/79830009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155213

[Term]
id: MONDO:0001335
name: hypotrichosis of eyelid
def: "A hypotrichosis that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid hypotrichosis" EXACT [MONDO:patterns/location]
xref: DOID:11671 {source="MONDO:equivalentTo"}
xref: ICD10:H02.72 {source="DOID:11671"}
xref: ICD9:374.55 {source="MONDO:equivalentTo", source="i2s", source="DOID:11671"}
xref: SCTID:70738004 {source="MONDO:equivalentTo", source="DOID:11671", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155214 {source="MONDO:equivalentTo", source="DOID:11671"}
is_a: MONDO:0003037 {source="DOID:11671", source="MONDO:Redundant", source="linkedlifedata"} ! hypotrichosis
is_a: MONDO:0003382 ! eyelid disease
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11671"} ! eyelid degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193959007
property_value: exactMatch DOID:11671
property_value: exactMatch http://identifiers.org/snomedct/70738004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155214

[Term]
id: MONDO:0001336
name: familial hyperlipidemia
def: "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: consider merging
synonym: "familial hyperlipemia" RELATED []
synonym: "familial hyperlipoproteinemia" RELATED [DOID:1168]
synonym: "hereditary hyperlipidemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "hyperlipemia" BROAD [CSP2005:1744-2444, DOID:1168]
synonym: "hyperlipidaemia" BROAD [DOID:1168]
xref: DOID:1168 {source="MONDO:equivalentTo"}
xref: ICD10:E78.5 {source="MONDO:relatedTo", source="DOID:1168"}
is_a: MONDO:0002525 {source="DOID:1168", source="MONDO:Redundant"} ! inherited lipid metabolism disorder
is_a: MONDO:0021187 ! hyperlipidemia (disease)
intersection_of: MONDO:0021187 ! hyperlipidemia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/mesh/D006951
property_value: closeMatch http://identifiers.org/snomedct/154739000
property_value: closeMatch http://identifiers.org/snomedct/154743001
property_value: closeMatch http://identifiers.org/snomedct/190782002
property_value: closeMatch http://identifiers.org/snomedct/267499005
property_value: closeMatch http://identifiers.org/snomedct/3744001
property_value: exactMatch DOID:1168
property_value: exactMatch NCIT:C34707

[Term]
id: MONDO:0001337
name: inflamed seborrheic keratosis
xref: COHD:40483107 {source="MONDO:equivalentTo"}
xref: DOID:11685 {source="MONDO:equivalentTo"}
xref: ICD10:L82.0 {source="MONDO:equivalentTo", source="DOID:11685"}
xref: ICD9:702.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:11685"}
xref: SCTID:442348004 {source="MONDO:equivalentTo", source="DOID:11685", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0376117 {source="MONDO:equivalentTo", source="DOID:11685"}
is_a: MONDO:0008420 {source="DOID:11685", source="ICD10:L82.0", source="MONDOLEX:0001337"} ! seborrheic keratosis
property_value: exactMatch DOID:11685
property_value: exactMatch http://identifiers.org/snomedct/442348004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376117

[Term]
id: MONDO:0001338
name: acute apical periodontitis
synonym: "acute apical periodontitis of pulpal origin" EXACT [DOID:11693, ICD9CM_2006:522.4]
xref: COHD:132659 {source="MONDO:equivalentTo"}
xref: DOID:11693 {source="MONDO:equivalentTo"}
xref: ICD10:K04.4 {source="MONDO:equivalentTo", source="DOID:11693"}
xref: ICD9:522.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:11693"}
xref: SCTID:718053009 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"}
xref: UMLS:C4084770 {source="MONDO:equivalentTo"}
is_a: MONDO:0004508 {source="DOID:11693", source="MONDOLEX:0001338", source="linkedlifedata"} ! periapical periodontitis
property_value: closeMatch http://identifiers.org/snomedct/109605000
property_value: closeMatch http://identifiers.org/snomedct/196338001
property_value: closeMatch http://identifiers.org/snomedct/88071000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155934
property_value: exactMatch DOID:11693
property_value: exactMatch http://identifiers.org/snomedct/718053009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084770

[Term]
id: MONDO:0001339
name: portal vein thrombosis
def: "The formation of a blood clot (thrombus) in the portal vein." [NCIT:P378]
synonym: "portal vein thrombotic disease" EXACT [MONDO:patterns/location]
synonym: "thrombotic disease of portal vein" EXACT [MONDO:design_pattern]
xref: COHD:199837 {source="MONDO:equivalentTo"}
xref: DOID:11695 {source="MONDO:equivalentTo"}
xref: ICD10:I81 {source="MONDO:equivalentTo", source="DOID:11695"}
xref: ICD9:452 {source="MONDO:equivalentTo", source="i2s", source="DOID:11695"}
xref: NCIT:C78565 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11695"}
xref: SCTID:17920008 {source="MONDO:equivalentTo", source="DOID:11695", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155773 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C78565", source="DOID:11695"}
is_a: MONDO:0000831 {source="DOID:11695", source="MONDO:Redundant", source="NCIT:C78565/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombotic disease
is_a: MONDO:0002405 {source="DOID:11695", source="linkedlifedata"} ! hepatic vascular disease
is_a: MONDO:0004634 {source="DOID:11695", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! vein disease
property_value: closeMatch http://identifiers.org/snomedct/155455003
property_value: exactMatch DOID:11695
property_value: exactMatch http://identifiers.org/snomedct/17920008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155773
property_value: exactMatch NCIT:C78565

[Term]
id: MONDO:0001340
name: heart cancer
def: "A malignant neoplasm involving the heart" [MONDO:DesignPattern]
synonym: "cancer of heart" EXACT [MONDO:patterns/cancer]
synonym: "Cardiac neoplasm, malignant" EXACT [NCIT:C3548]
synonym: "Cardiac tumor" BROAD [DOID:117, NCIT:C3081]
synonym: "heart cancer" EXACT [MONDO:patterns/location, NCIT:C3548]
synonym: "malignant Cardiac neoplasm" EXACT [NCIT:C3548]
synonym: "malignant Cardiac tumor" EXACT [DOID:117, NCIT:C3548]
synonym: "malignant heart neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3548]
synonym: "malignant heart tumor" EXACT [NCIT:C3548]
synonym: "malignant neoplasm of heart" EXACT [DOID:117, MONDO:patterns/cancer, NCIT:C3548]
synonym: "malignant neoplasm of the heart" EXACT [NCIT:C3548]
synonym: "malignant tumor of heart" EXACT [NCIT:C3548]
synonym: "malignant tumor of the heart" EXACT [NCIT:C3548]
synonym: "tumour of heart" BROAD [DOID:117]
xref: DOID:117 {source="MONDO:equivalentTo"}
xref: ICD10:C38.0 {source="DOID:117"}
xref: ICD9:164.1 {source="DOID:117"}
xref: MESH:D006338 {source="DOID:117", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3548 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="DOID:117", source="MONDO:equivalentTo"}
is_a: MONDO:0002100 {source="DOID:117", source="MONDO:Redundant", source="NCIT:C3548"} ! cardiovascular cancer
is_a: MONDO:0003274 ! thoracic cancer
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C3548"} ! heart neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126730001
property_value: closeMatch http://identifiers.org/snomedct/154555009
property_value: closeMatch http://identifiers.org/snomedct/187886009
property_value: closeMatch http://identifiers.org/snomedct/269615000
property_value: closeMatch http://identifiers.org/snomedct/363435002
property_value: closeMatch http://identifiers.org/snomedct/387842002
property_value: closeMatch http://identifiers.org/snomedct/93825008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018809
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153500
property_value: exactMatch DOID:117
property_value: exactMatch http://identifiers.org/mesh/D006338
property_value: exactMatch NCIT:C3548

[Term]
id: MONDO:0001341
name: selective IgA deficiency disease
def: "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." [NCIT:C26964]
synonym: "deficiencies, IgA" RELATED [MESH:D017098]
synonym: "deficiency, IgA" RELATED [MESH:D017098]
synonym: "gamma-A-globulin deficiency" EXACT [DOID:0060025]
synonym: "IgA deficiencies" RELATED [MESH:D017098]
synonym: "IgA deficiency" EXACT [DOID:0060025]
synonym: "immunoglobulin A deficiency" EXACT [MONDO:0000048]
synonym: "immunoglobulin alpha deficiency" RELATED [DOID:0060025]
synonym: "selective IgA immunodeficiency" EXACT [DOID:11701, ICD9CM_2006:279.01, NCIT:C26964]
synonym: "selective immunoglobulin A deficiency" EXACT [DOID:11701]
xref: DC:0000223 {source="MONDO:equivalentTo"}
xref: DOID:0060025 {source="MONDO:equivalentTo"}
xref: DOID:11701 {source="MONDO:equivalentTo"}
xref: EFO:1001929 {source="MONDO:equivalentTo"}
xref: MESH:D017098 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26964 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:29260007 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"}
xref: UMLS:C0162538 {source="MEDGEN:kboom-pr96-c98", source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"}
xref: UMLS:C4049006 {source="MONDO:equivalentTo", source="NCIT:C26964", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0001342 {source="DOID:11701", source="MESH:D017098"} ! dysgammaglobulinemia (disease)
relationship: excluded_subClassOf MONDO:0002211 {source="DOID:0060025"} ! B cell deficiency
property_value: closeMatch Orphanet:69127
property_value: exactMatch DOID:0060025
property_value: exactMatch DOID:11701
property_value: exactMatch http://identifiers.org/mesh/D017098
property_value: exactMatch http://identifiers.org/snomedct/29260007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162538
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049006
property_value: exactMatch NCIT:C26964

[Term]
id: MONDO:0001342
name: dysgammaglobulinemia (disease)
def: "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." [MESH:D004406]
synonym: "dysgammaglobulinemia" EXACT [MONDO:ambiguous]
synonym: "dysgammaglobulinemia (finding)" EXACT [DOID:11702]
xref: DOID:11702 {source="MONDO:equivalentTo"}
xref: HP:0002961 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D004406 {source="DOID:11702", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:123782009 {source="DOID:11702", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0013374 {source="DOID:11702", source="MONDO:equivalentTo"}
is_a: MONDO:0003739 {source="DOID:11702"} ! selective immunoglobulin deficiency disease
is_a: MONDO:0003804 {source="MESH:D004406"} ! blood protein disease
property_value: closeMatch http://identifiers.org/snomedct/127389001
property_value: exactMatch DOID:11702
property_value: exactMatch http://identifiers.org/mesh/D004406
property_value: exactMatch http://identifiers.org/snomedct/123782009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013374

[Term]
id: MONDO:0001343
name: impaired renal function disease
def: "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "disease of kidney" EXACT [MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "kidney disease" EXACT []
xref: DOID:11705 {source="MONDO:equivalentTo"}
xref: ICD10:N25 {source="MONDO:equivalentTo"}
xref: ICD9:588.8 {source="DOID:11705"}
xref: ICD9:588.89 {source="DOID:11705"}
xref: ICD9:588.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:197663003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:11705", source="linkedlifedata"} ! kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029791
property_value: exactMatch DOID:11705
property_value: exactMatch http://identifiers.org/snomedct/197663003

[Term]
id: MONDO:0001344
name: obsolete neonatal diabetes mellitus
is_obsolete: true
replaced_by: MONDO:0016391

[Term]
id: MONDO:0001345
name: antidepressant type abuse
def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." [DOID:11718, http://en.wikipedia.org/wiki/Antidepressant]
xref: DOID:11718 {source="MONDO:equivalentTo"}
xref: ICD9:305.8 {source="DOID:11718"}
is_a: MONDO:0002491 {source="DOID:11718"} ! substance abuse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154540
property_value: exactMatch DOID:11718

[Term]
id: MONDO:0001346
name: obsolete distal muscular dystrophy
is_obsolete: true
replaced_by: MONDO:0018949

[Term]
id: MONDO:0001347
name: facioscapulohumeral muscular dystrophy
def: "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." [NCIT:P378]
subset: ordo_disease {source="Orphanet:269"}
synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099]
synonym: "facioscapulohumeral muscular dystrophy" EXACT [Orphanet:269]
synonym: "facioscapulohumeral myopathy" EXACT [Orphanet:269]
synonym: "FSH dystrophy" EXACT [Orphanet:269]
synonym: "FSHD" EXACT [Orphanet:269]
synonym: "Landouzy Dejerine muscular dystrophy" EXACT [CSP2005:1849-6662, DOID:11727]
synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [DOID:11727]
synonym: "Landouzy-Dejerine myopathy" EXACT [Orphanet:269]
synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727, MTHICD9_2006:359.1]
xref: DOID:11727 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:269", source="ORDO:269/inclusion", source="DOID:11727", source="ORDO:269/ntbt"}
xref: MedDRA:10064087 {source="Orphanet:269", source="ORDO:269/e"}
xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"}
xref: NCIT:C84704 {source="MONDO:kboom-pr-0.90/0.79/0.20", source="DOID:11727", source="MONDO:equivalentTo"}
xref: Orphanet:269 {source="MONDO:equivalentTo"}
xref: SCTID:399091004 {source="DOID:11727", source="MONDO:equivalentTo"}
is_a: MONDO:0016106 {source="Orphanet:269"} ! progressive muscular dystrophy
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: closeMatch http://identifiers.org/snomedct/56096001
property_value: exactMatch DOID:11727
property_value: exactMatch http://identifiers.org/meddra/10064087
property_value: exactMatch http://identifiers.org/mesh/D020391
property_value: exactMatch http://identifiers.org/snomedct/399091004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238288
property_value: exactMatch NCIT:C84704
property_value: exactMatch Orphanet:269

[Term]
id: MONDO:0001348
name: obsolete Lyme disease
is_obsolete: true
replaced_by: MONDO:0019632

[Term]
id: MONDO:0001349
name: odontoclasia
xref: DOID:11736 {source="MONDO:equivalentTo"}
xref: ICD10:K02.4 {source="MONDO:equivalentTo"}
xref: ICD9:521.05 {source="DOID:11736", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:196305005 {source="DOID:11736", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0341004 {source="DOID:11736", source="MONDO:equivalentTo"}
is_a: MONDO:0005276 {source="DOID:11736", source="ICD10:K02.4", source="linkedlifedata"} ! dental caries
property_value: exactMatch DOID:11736
property_value: exactMatch http://identifiers.org/snomedct/196305005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341004

[Term]
id: MONDO:0001350
name: parametrium malignant neoplasm
def: "A malignant neoplasm involving the parametrium." [MONDO:DesignPattern]
synonym: "cancer of parametrium" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parametrium" EXACT [MONDO:patterns/cancer]
synonym: "malignant parametrium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "parametrium cancer" EXACT [MONDO:patterns/location]
xref: COHD:40491000 {source="MONDO:equivalentTo"}
xref: DOID:11746 {source="MONDO:equivalentTo"}
xref: ICD10:C57.3 {source="DOID:11746"}
xref: ICD9:183.4 {source="DOID:11746", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:448674007 {source="DOID:11746", source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C0153581 {source="DOID:11746", source="MONDO:equivalentTo"}
is_a: MONDO:0001108 ! broad ligament malignant neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188203006
property_value: closeMatch http://identifiers.org/snomedct/93942003
property_value: exactMatch DOID:11746
property_value: exactMatch http://identifiers.org/snomedct/448674007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153581

[Term]
id: MONDO:0001351
name: uterine adnexa cancer
comment: Editor note: TODO add uberon class
xref: DOID:11747 {source="MONDO:equivalentTo"}
xref: ICD10:C57.4 {source="DOID:11747"}
xref: ICD9:183 {source="DOID:11747"}
xref: ICD9:183.9 {source="DOID:11747"}
is_a: MONDO:0002715 {source="DOID:11747"} ! uterine cancer
property_value: closeMatch http://identifiers.org/snomedct/154527005
property_value: closeMatch http://identifiers.org/snomedct/188201008
property_value: closeMatch http://identifiers.org/snomedct/188206003
property_value: closeMatch http://identifiers.org/snomedct/190123001
property_value: closeMatch http://identifiers.org/snomedct/269601002
property_value: closeMatch http://identifiers.org/snomedct/428322007
property_value: closeMatch http://identifiers.org/snomedct/94126000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153577
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153584
property_value: exactMatch DOID:11747

[Term]
id: MONDO:0001352
name: round ligament malignant neoplasm
def: "A malignant neoplasm involving the round ligament of uterus." [MONDO:DesignPattern]
synonym: "cancer of round ligament of uterus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of round ligament" EXACT [DOID:11748]
synonym: "malignant neoplasm of round ligament of uterus" EXACT [DOID:11748, ICD9CM_2006:183.5, MONDO:patterns/cancer]
synonym: "malignant round ligament of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "round ligament of uterus cancer" EXACT [MONDO:patterns/location]
xref: DOID:11748 {source="MONDO:equivalentTo"}
xref: ICD10:C57.2 {source="DOID:11748"}
xref: ICD9:183.5 {source="MONDO:equivalentTo", source="DOID:11748", source="i2s"}
xref: SCTID:188204000 {source="MONDO:equivalentTo", source="DOID:11748", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346867 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:11748"}
is_a: MONDO:0000637 ! musculoskeletal system cancer
is_a: MONDO:0001351 {source="DOID:11748"} ! uterine adnexa cancer
is_a: MONDO:0002087 {source="DOID:11748", source="linkedlifedata"} ! peritoneum cancer
is_a: MONDO:0045044 ! ligament disease
property_value: closeMatch http://identifiers.org/snomedct/93994001
property_value: exactMatch DOID:11748
property_value: exactMatch http://identifiers.org/snomedct/188204000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346867

[Term]
id: MONDO:0001353
name: Bordetella parapertussis infectious disease
def: "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." [PMID:9542925]
synonym: "Bordetella parapertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella parapertussis disease or disorder" EXACT []
synonym: "Bordetella parapertussis infection" RELATED []
synonym: "Bordetella parapertussis whooping cough" RELATED [DOID:11750]
synonym: "infection caused by Bordetella parapertussis" RELATED []
synonym: "infection due to Bordetella parapertussis" EXACT []
xref: DOID:11750 {source="MONDO:equivalentTo"}
xref: ICD10:A37.1 {source="MONDO:equivalentTo", source="DOID:11750"}
xref: ICD9:033.1 {source="DOID:11750", source="linkedlifedata"}
xref: SCTID:77116006 {source="MONDO:equivalentTo", source="DOID:11750"}
xref: UMLS:C0275742 {source="MONDO:equivalentTo", source="DOID:11750"}
is_a: MONDO:0037872 {source="MONDO:Redundant", source="linkedlifedata"} ! bordetellosis
disjoint_from: MONDO:0005077 ! pertussis
relationship: excluded_subClassOf MONDO:0005077 {source="DOID:11750"} ! pertussis
property_value: exactMatch DOID:11750
property_value: exactMatch http://identifiers.org/snomedct/77116006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275742

[Term]
id: MONDO:0001354
name: obsolete acute endophthalmitis
is_obsolete: true
replaced_by: MONDO:0017202

[Term]
id: MONDO:0001355
name: ocular siderosis
def: "A hemosiderosis that involves the camera-type eye." [MONDO:patterns/location]
synonym: "camera-type eye hemosiderosis" EXACT [MONDO:patterns/location]
synonym: "hemosiderosis of camera-type eye" EXACT [MONDO:design_pattern]
synonym: "siderosis bulbi" EXACT [MONDO:cjm]
synonym: "siderosis of eye" EXACT [DOID:11754]
synonym: "siderosis of globe" EXACT [DOID:11754, ICD9CM_2006:360.23]
xref: DOID:11754 {source="MONDO:equivalentTo"}
xref: ICD10:H44.32 {source="DOID:11754"}
xref: ICD9:360.23 {source="DOID:11754", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:25277000 {source="DOID:11754", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0271001 {source="DOID:11754", source="MONDO:equivalentTo"}
is_a: MONDO:0001436 ! hemosiderosis
is_a: MONDO:0005328 {source="DOID:11754/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: exactMatch DOID:11754
property_value: exactMatch http://identifiers.org/snomedct/25277000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271001

[Term]
id: MONDO:0001356
name: iron deficiency anemia
def: "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss." [NCIT:C84484]
synonym: "iron-deficiency anemia" EXACT [NCIT:C84484]
xref: COHD:436659 {source="MONDO:equivalentTo"}
xref: DOID:11758 {source="MONDO:equivalentTo"}
xref: ICD9:280.8 {source="MONDO:relatedTo", source="DOID:11758", source="i2s"}
xref: ICD9:280.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D018798 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84484 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: SCTID:87522002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162316 {source="MONDO:equivalentTo", source="NCIT:C84484"}
is_a: MONDO:0000387 ! hypochromic microcytic anemia (disease)
is_a: MONDO:0006873 {source="DOID:11758", source="linkedlifedata"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/snomedct/191129007
property_value: closeMatch http://identifiers.org/snomedct/191131003
property_value: closeMatch http://identifiers.org/snomedct/267514001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029810
property_value: exactMatch DOID:11758
property_value: exactMatch http://identifiers.org/mesh/D018798
property_value: exactMatch http://identifiers.org/snomedct/87522002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162316
property_value: exactMatch NCIT:C84484

[Term]
id: MONDO:0001357
name: hypochromic anemia (disease)
def: "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." [NCIT:C34380]
synonym: "anemia hypochromic" EXACT [DOID:11759, MTH:NOCODE]
synonym: "hypochromic anemia" EXACT [MONDO:ambiguous, NCIT:C34380]
xref: DOID:11759 {source="MONDO:equivalentTo"}
xref: HP:0001931 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D50 {source="DOID:11759"}
xref: NCIT:C34380 {source="MONDO:equivalentTo", source="DOID:11759", source="MONDO:kboom-pr-0.92/0.84/0.22"}
xref: SCTID:44452003 {source="MONDO:equivalentTo", source="DOID:11759", source="MONDO:kboom-pr-0.77/0.42/0.63"}
xref: UMLS:C0002884 {source="NCIT:C34380", source="MONDO:equivalentTo", source="DOID:11759"}
is_a: MONDO:0002280 {source="DOID:11759", source="NCIT:C34380", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/mesh/D000747
property_value: exactMatch DOID:11759
property_value: exactMatch http://identifiers.org/snomedct/44452003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002884
property_value: exactMatch NCIT:C34380

[Term]
id: MONDO:0001358
name: bronchial disease
def: "A disease involving the bronchus." [MONDO:patterns/location_top]
synonym: "bronchial disorder" RELATED []
synonym: "bronchospasm" EXACT [DOID:1176, NCIT:C34439]
synonym: "bronchus disease" EXACT [MONDO:patterns/location]
synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bronchus" EXACT []
synonym: "disorder of bronchus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of bronchus" RELATED [MONDO:patterns/location_top]
xref: COHD:256717 {source="MONDO:equivalentTo"}
xref: DOID:1176 {source="MONDO:equivalentTo"}
xref: EFO:1002018 {source="MONDO:equivalentTo"}
xref: ICD9:519.19 {source="linkedlifedata"}
xref: MESH:D001982 {source="DOID:1176", source="MONDO:equivalentTo"}
xref: NCIT:C34439 {source="MONDO:equivalentTo"}
xref: SCTID:41427001 {source="DOID:1176", source="MONDO:equivalentTo"}
xref: UMLS:C0006261 {source="DOID:1176", source="MONDO:equivalentTo"}
is_a: MONDO:0000270 {source="DOID:1176", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! lower respiratory tract disease
is_a: MONDO:0000651 {source="NCIT:C34439/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease
property_value: exactMatch DOID:1176
property_value: exactMatch http://identifiers.org/mesh/D001982
property_value: exactMatch http://identifiers.org/snomedct/41427001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006261
property_value: exactMatch NCIT:C34439

[Term]
id: MONDO:0001359
name: obsolete Kohler disease
is_obsolete: true
replaced_by: MONDO:0016086

[Term]
id: MONDO:0001360
name: blind hypotensive eye
xref: COHD:378742 {source="MONDO:equivalentTo"}
xref: DOID:11766 {source="MONDO:equivalentTo"}
xref: ICD9:360.41 {source="DOID:11766", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:23360000 {source="DOID:11766", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154788 {source="DOID:11766", source="MONDO:equivalentTo"}
is_a: MONDO:0004390 {source="DOID:11766", source="linkedlifedata"} ! ocular hypotension
property_value: closeMatch http://identifiers.org/snomedct/193291000
property_value: closeMatch http://identifiers.org/snomedct/4229009
property_value: exactMatch DOID:11766
property_value: exactMatch http://identifiers.org/snomedct/23360000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154788

[Term]
id: MONDO:0001361
name: spontaneous ocular nystagmus
def: "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" [MESH:D009759]
synonym: "ocular nystagmus" EXACT [DOID:11771]
synonym: "searching eye movements" EXACT [DOID:11771]
synonym: "visual deprivation nystagmus" EXACT [DOID:11771, ICD9CM_2006:379.53]
xref: DOID:11771 {source="MONDO:equivalentTo"}
xref: ICD10:H55.03 {source="MONDO:equivalentTo", source="DOID:11771"}
xref: ICD9:379.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:11771"}
xref: SCTID:45339001 {source="MONDO:equivalentTo", source="DOID:11771", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271384 {source="MONDO:equivalentTo", source="DOID:11771"}
is_a: MONDO:0004843 {source="DOID:11771"} ! pathologic nystagmus
property_value: closeMatch http://identifiers.org/snomedct/246784009
property_value: closeMatch http://identifiers.org/snomedct/39771000
property_value: exactMatch DOID:11771
property_value: exactMatch http://identifiers.org/snomedct/45339001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271384

[Term]
id: MONDO:0001362
name: obsolete leukocoria
def: "an abnormal white reflection from the retina of the eye." [https://en.wikipedia.org/wiki/Leukocoria]
comment: Obsoleted as it represents a feature/finding
xref: COHD:373461 {source="MONDO:obsoleteEquivalent"}
xref: DOID:11772 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:H44.53 {source="DOID:11772"}
xref: ICD9:360.44 {source="MONDO:obsoleteEquivalent", source="i2s", source="DOID:11772"}
xref: SCTID:1361009 {source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11772"}
xref: UMLS:C0152458 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="DOID:11772"}
relationship: excluded_subClassOf MONDO:0004884 {source="DOID:11772"} ! eye degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193288000
property_value: exactMatch DOID:11772
property_value: exactMatch http://identifiers.org/snomedct/1361009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152458
is_obsolete: true
replaced_by: HP:0000555

[Term]
id: MONDO:0001363
name: blind hypertensive eye
xref: COHD:377551 {source="MONDO:equivalentTo"}
xref: DOID:11776 {source="MONDO:equivalentTo"}
xref: ICD9:360.42 {source="DOID:11776", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:264008 {source="DOID:11776", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154789 {source="DOID:11776", source="MONDO:equivalentTo"}
is_a: MONDO:0004884 {source="DOID:11776", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193286001
property_value: exactMatch DOID:11776
property_value: exactMatch http://identifiers.org/snomedct/264008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154789

[Term]
id: MONDO:0001364
name: regular astigmatism
xref: COHD:380706 {source="MONDO:equivalentTo"}
xref: DOID:11781 {source="MONDO:equivalentTo"}
xref: ICD10:H52.22 {source="DOID:11781"}
xref: ICD9:367.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:11781"}
xref: SCTID:68905002 {source="MONDO:equivalentTo", source="DOID:11781", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152193 {source="MONDO:equivalentTo", source="DOID:11781"}
is_a: MONDO:0011284 {source="DOID:11781", source="linkedlifedata"} ! astigmatism (disease)
property_value: exactMatch DOID:11781
property_value: exactMatch http://identifiers.org/snomedct/68905002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152193

[Term]
id: MONDO:0001365
name: necrosis of ear ossicle
comment: Editor note: TODO consider cede to HPO
synonym: "partial loss or necrosis of ear ossicles" EXACT [DOID:11783]
xref: DOID:11783 {source="MONDO:equivalentTo"}
xref: ICD9:385.24 {source="DOID:11783"}
is_a: MONDO:0003276 ! middle ear disease
is_a: MONDO:0005172 ! skeletal system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155488
property_value: exactMatch DOID:11783

[Term]
id: MONDO:0001366
name: splenic sequestration
comment: Editor note: TODO consider cede to HPO
xref: DOID:11786 {source="MONDO:equivalentTo"}
xref: ICD9:289.52 {source="DOID:11786"}
is_a: MONDO:0002332 {source="DOID:11786"} ! splenic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1260402
property_value: exactMatch DOID:11786

[Term]
id: MONDO:0001367
name: chronic congestive splenomegaly
def: "Chronic form of congestive splenomegaly." [MONDO:patterns/chronic]
synonym: "congestive splenomegaly, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: COHD:196951 {source="MONDO:equivalentTo"}
xref: DOID:11787 {source="MONDO:equivalentTo"}
xref: ICD10:D73.2 {source="DOID:11787", source="MONDO:equivalentTo"}
xref: ICD9:289.51 {source="DOID:11787", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:191382009 {source="DOID:11787", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0398661 {source="DOID:11787", source="MONDO:equivalentTo"}
is_a: MONDO:0037251 ! congestive splenomegaly
property_value: exactMatch DOID:11787
property_value: exactMatch http://identifiers.org/snomedct/191382009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398661

[Term]
id: MONDO:0001368
name: phthisical cornea
xref: COHD:381023 {source="MONDO:equivalentTo"}
xref: DOID:11793 {source="MONDO:equivalentTo"}
xref: ICD9:371.05 {source="MONDO:equivalentTo", source="i2s", source="DOID:11793"}
xref: SCTID:28143002 {source="MONDO:equivalentTo", source="DOID:11793", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155102 {source="MONDO:equivalentTo", source="DOID:11793"}
is_a: MONDO:0001515 {source="DOID:11793", source="linkedlifedata"} ! corneal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193801004
property_value: exactMatch DOID:11793
property_value: exactMatch http://identifiers.org/snomedct/28143002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155102

[Term]
id: MONDO:0001369
name: chronic laryngitis
def: "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." [NCIT:P378]
synonym: "laryngitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:24970 {source="MONDO:equivalentTo"}
xref: DOID:11797 {source="MONDO:equivalentTo"}
xref: ICD10:J37.0 {source="DOID:11797", source="MONDO:equivalentTo"}
xref: ICD9:476.0 {source="DOID:11797", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26975 {source="DOID:11797", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:29951006 {source="DOID:11797", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155836 {source="DOID:11797", source="MONDO:equivalentTo", source="NCIT:C26975"}
is_a: MONDO:0002647 {source="DOID:11797", source="MONDO:Redundant", source="NCIT:C26975", source="linkedlifedata"} ! laryngitis
property_value: closeMatch http://identifiers.org/snomedct/155535001
property_value: closeMatch http://identifiers.org/snomedct/195815004
property_value: closeMatch http://identifiers.org/snomedct/195816003
property_value: exactMatch DOID:11797
property_value: exactMatch http://identifiers.org/snomedct/29951006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155836
property_value: exactMatch NCIT:C26975

[Term]
id: MONDO:0001370
name: pericardial effusion (disease)
def: "Fluid collection within the pericardial sac, usually due to inflammation." [NCIT:P378]
synonym: "fluid, pericardial" EXACT [NCIT:C3319]
synonym: "pericardial effusion" EXACT [MONDO:ambiguous]
synonym: "pericardial fluid" EXACT [NCIT:C3319]
xref: DOID:118 {source="MONDO:equivalentTo"}
xref: HP:0001698 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C3319 {source="DOID:118", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.91/26.29"}
xref: SCTID:373945007 {source="DOID:118", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031039 {source="DOID:118", source="MONDO:equivalentTo"}
is_a: MONDO:0000474 {source="DOID:118", source="linkedlifedata"} ! pericardium disease
property_value: closeMatch http://identifiers.org/mesh/D010490
property_value: closeMatch http://identifiers.org/snomedct/70370001
property_value: exactMatch DOID:118
property_value: exactMatch http://identifiers.org/snomedct/373945007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031039
property_value: exactMatch NCIT:C3319

[Term]
id: MONDO:0001371
name: protein-energy malnutrition
def: "A nutritional deficit that is caused by inadequate protein or calorie intake." [NCIT:P378]
synonym: "Protein energy malnutrition" EXACT [NCIT:C34952]
xref: DOID:11801 {source="MONDO:equivalentTo"}
xref: ICD10:E46 {source="DOID:11801"}
xref: ICD9:263.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:263.9 {source="DOID:11801", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:269.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011502 {source="DOID:11801", source="MONDO:equivalentTo"}
xref: NCIT:C34952 {source="MONDO:kboom-pr-0.79/0.39/0.91", source="DOID:11801", source="MONDO:equivalentTo"}
xref: SCTID:238107002 {source="DOID:11801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.49"}
is_a: MONDO:0006873 {source="DOID:11801", source="MESH:D011502/inferred", source="NCIT:C34952", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/snomedct/190608007
property_value: closeMatch http://identifiers.org/snomedct/267411007
property_value: closeMatch http://identifiers.org/snomedct/72608005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033677
property_value: exactMatch DOID:11801
property_value: exactMatch http://identifiers.org/mesh/D011502
property_value: exactMatch http://identifiers.org/snomedct/238107002
property_value: exactMatch NCIT:C34952

[Term]
id: MONDO:0001372
name: bladder neck cancer
def: "A malignant neoplasm involving the neck of urinary bladder." [MONDO:DesignPattern]
synonym: "cancer of neck of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neck of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of neck of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of urinary bladder neck" EXACT [DOID:11809]
synonym: "malignant tumor of bladder neck" EXACT [DOID:11809]
synonym: "neck of urinary bladder cancer" EXACT [MONDO:patterns/location]
xref: DOID:11809 {source="MONDO:equivalentTo"}
xref: ICD10:C67.5 {source="DOID:11809"}
xref: ICD9:188.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:11809"}
xref: SCTID:188244007 {source="MONDO:equivalentTo", source="DOID:11809", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001187 {source="DOID:11809", source="MONDO:Redundant", source="MONDOLEX:0001372", source="linkedlifedata"} ! urinary bladder cancer
is_a: MONDO:0041154 ! disease of neck of urinary bladder
property_value: closeMatch http://identifiers.org/snomedct/94124002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153613
property_value: exactMatch DOID:11809
property_value: exactMatch http://identifiers.org/snomedct/188244007

[Term]
id: MONDO:0001373
name: urinary bladder posterior wall cancer
synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT [DOID:11811]
xref: DOID:11811 {source="MONDO:equivalentTo"}
xref: ICD10:C67.4 {source="DOID:11811"}
xref: ICD9:188.4 {source="DOID:11811", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188243001 {source="DOID:11811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153612 {source="MEDGEN:kboom-pr97-c98", source="DOID:11811", source="MONDO:equivalentTo"}
is_a: MONDO:0001187 {source="DOID:11811", source="linkedlifedata"} ! urinary bladder cancer
property_value: closeMatch http://identifiers.org/snomedct/93972009
property_value: exactMatch DOID:11811
property_value: exactMatch http://identifiers.org/snomedct/188243001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153612

[Term]
id: MONDO:0001374
name: bladder sarcoma
def: "A malignant mesenchymal cell neoplasm that affects the urinary bladder." [NCIT:C4669]
synonym: "bladder sarcoma" EXACT [NCIT:C4669]
synonym: "sarcoma of bladder" EXACT [NCIT:C4669]
synonym: "sarcoma of the bladder" EXACT [NCIT:C4669]
synonym: "sarcoma of the urinary bladder" EXACT [DOID:11812, NCIT:C4669]
synonym: "sarcoma of urinary bladder" EXACT [MONDO:patterns/sarcoma, NCIT:C4669]
synonym: "urinary bladder sarcoma" EXACT [MONDO:patterns/location, NCIT:C4669]
xref: DOID:11812 {source="MONDO:equivalentTo"}
xref: NCIT:C4669 {source="DOID:11812", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:278046008 {source="DOID:11812", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.83"}
xref: UMLS:C0349666 {source="DOID:11812", source="MONDO:equivalentTo", source="NCIT:C4669"}
is_a: MONDO:0001187 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669", source="linkedlifedata"} ! urinary bladder cancer
is_a: MONDO:0018078 {source="NCIT:C4669"} ! soft tissue sarcoma
property_value: exactMatch DOID:11812
property_value: exactMatch http://identifiers.org/snomedct/278046008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349666
property_value: exactMatch NCIT:C4669

[Term]
id: MONDO:0001375
name: bladder trigone cancer
def: "A malignant neoplasm involving the trigone of urinary bladder." [MONDO:DesignPattern]
synonym: "cancer of trigone of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [DOID:11813, ICD9CM_2006:188.0, MONDO:patterns/cancer]
synonym: "malignant trigone of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "trigone of urinary bladder cancer" EXACT [MONDO:patterns/location]
xref: DOID:11813 {source="MONDO:equivalentTo"}
xref: ICD10:C67.0 {source="DOID:11813"}
xref: ICD9:188.0 {source="DOID:11813", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188239000 {source="DOID:11813", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0496826 {source="DOID:11813", source="MONDO:equivalentTo"}
is_a: MONDO:0001380 ! bladder dome cancer
property_value: closeMatch http://identifiers.org/snomedct/254931006
property_value: closeMatch http://identifiers.org/snomedct/94109006
property_value: exactMatch DOID:11813
property_value: exactMatch http://identifiers.org/snomedct/188239000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496826

[Term]
id: MONDO:0001376
name: urinary bladder anterior wall cancer
synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT [DOID:11814]
xref: DOID:11814 {source="MONDO:equivalentTo"}
xref: ICD10:C67.3 {source="DOID:11814"}
xref: ICD9:188.3 {source="MONDO:equivalentTo", source="DOID:11814", source="i2s"}
xref: SCTID:188242006 {source="MONDO:equivalentTo", source="DOID:11814", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153611 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:11814"}
is_a: MONDO:0001187 {source="DOID:11814", source="linkedlifedata"} ! urinary bladder cancer
property_value: closeMatch http://identifiers.org/snomedct/93675008
property_value: exactMatch DOID:11814
property_value: exactMatch http://identifiers.org/snomedct/188242006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153611

[Term]
id: MONDO:0001377
name: vitreous syneresis
comment: Editor note: TODO consider cede to HPO
synonym: "vitreous degeneration" EXACT [DOID:11816, ICD9CM_2006:379.21]
xref: COHD:320420 {source="MONDO:equivalentTo"}
xref: DOID:11816 {source="MONDO:equivalentTo"}
xref: ICD10:H43.81 {source="DOID:11816"}
xref: ICD9:379.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:11816"}
xref: SCTID:60189009 {source="MONDO:equivalentTo", source="DOID:11816", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155366 {source="MONDO:equivalentTo", source="DOID:11816"}
is_a: MONDO:0004860 {source="DOID:11816"} ! vitreous disease
is_a: MONDO:0004884 {source="DOID:11816", source="linkedlifedata"} ! eye degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/247090008
property_value: exactMatch DOID:11816
property_value: exactMatch http://identifiers.org/snomedct/60189009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155366

[Term]
id: MONDO:0001378
name: urachus cancer
def: "A malignant neoplasm involving the urachus." [MONDO:DesignPattern]
synonym: "cancer of urachus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of urachus" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of urachus" EXACT [DOID:11817]
synonym: "malignant urachus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "urachus cancer" EXACT [MONDO:patterns/location]
xref: DOID:11817 {source="MONDO:equivalentTo"}
xref: ICD10:C67.7 {source="DOID:11817"}
xref: ICD9:188.7 {source="MONDO:equivalentTo", source="DOID:11817", source="i2s"}
xref: SCTID:363456000 {source="MONDO:equivalentTo", source="DOID:11817", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153615 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:11817"}
is_a: MONDO:0001187 {source="DOID:11817", source="MONDO:Redundant", source="linkedlifedata"} ! urinary bladder cancer
property_value: closeMatch http://identifiers.org/snomedct/94120006
property_value: exactMatch DOID:11817
property_value: exactMatch http://identifiers.org/snomedct/363456000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153615

[Term]
id: MONDO:0001379
name: ureteric orifice cancer
def: "A malignant neoplasm involving the ureteral orifice." [MONDO:DesignPattern]
synonym: "cancer of ureteral orifice" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ureteral orifice" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [DOID:11818]
synonym: "malignant tumor of ureteric orifice" EXACT [DOID:11818]
synonym: "malignant ureteral orifice neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "orifice of the ureter" EXACT [DOID:11818, NCIT:C12337]
synonym: "ureteral orifice cancer" EXACT [MONDO:patterns/location]
xref: DOID:11818 {source="MONDO:equivalentTo"}
xref: ICD10:C67.6 {source="DOID:11818"}
xref: ICD9:188.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11818"}
xref: SCTID:188245008 {source="MONDO:equivalentTo", source="DOID:11818", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153614 {source="MONDO:equivalentTo", source="DOID:11818"}
is_a: MONDO:0001380 ! bladder dome cancer
is_a: MONDO:0008627 {source="DOID:11818", source="MONDOLEX:0001379", source="linkedlifedata"} ! ureter cancer
property_value: closeMatch http://identifiers.org/snomedct/94122003
property_value: exactMatch DOID:11818
property_value: exactMatch http://identifiers.org/snomedct/188245008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153614
property_value: exactMatch NCIT:C12337

[Term]
id: MONDO:0001380
name: bladder dome cancer
def: "Cancer of the upper, convex surface of the bladder." [MONDO:cjm]
synonym: "cancer of fundus of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "fundus of urinary bladder cancer" EXACT [MONDO:patterns/location]
synonym: "malignant fundus of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of apex of urinary bladder" EXACT [DOID:11820]
synonym: "malignant neoplasm of dome of urinary bladder" EXACT [DOID:11820, ICD9CM_2006:188.1]
synonym: "malignant neoplasm of fundus of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vault of bladder" EXACT [DOID:11820]
synonym: "superior surface of bladder" EXACT [DOID:11820, NCIT:C12332]
xref: DOID:11820 {source="MONDO:equivalentTo"}
xref: ICD10:C67.1 {source="DOID:11820"}
xref: ICD9:188.1 {source="DOID:11820", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188240003 {source="DOID:11820", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0496827 {source="DOID:11820", source="MONDO:equivalentTo"}
is_a: MONDO:0001187 {source="DOID:11820", source="MONDO:Redundant", source="MONDOLEX:0001380", source="linkedlifedata"} ! urinary bladder cancer
property_value: closeMatch http://identifiers.org/snomedct/93678005
property_value: exactMatch DOID:11820
property_value: exactMatch http://identifiers.org/snomedct/188240003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496827
property_value: exactMatch NCIT:C12332

[Term]
id: MONDO:0001381
name: bladder lymphoma
def: "A lymphoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "lymphoma of bladder" EXACT [NCIT:C6164]
synonym: "lymphoma of the bladder" EXACT [NCIT:C6164]
synonym: "lymphoma of the urinary bladder" EXACT [DOID:11821, NCIT:C6164]
synonym: "lymphoma of urinary bladder" EXACT [NCIT:C6164]
synonym: "primary bladder lymphoma" EXACT [NCIT:C6164]
synonym: "urinary bladder lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:11821 {source="MONDO:equivalentTo"}
xref: NCIT:C6164 {source="DOID:11821", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332561 {source="NCIT:C6164", source="DOID:11821", source="MONDO:equivalentTo"}
is_a: MONDO:0001187 {source="DOID:11821", source="NCIT:C6164"} ! urinary bladder cancer
is_a: MONDO:0005062 {source="DOID:11821", source="MONDO:Redundant", source="NCIT:C6164/inferred"} ! lymphoma
property_value: exactMatch DOID:11821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332561
property_value: exactMatch NCIT:C6164

[Term]
id: MONDO:0001382
name: hepatorenal syndrome
def: "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health ( malaise ). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure . Individuals with type I typically have dramatically reduced urine output, edema , and jaundice , and often suffer from hepatic encephalopathy . Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant ." [https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome]
subset: gard_rare {source="GARD:0006610"}
synonym: "hepato-renal syndrome" RELATED [GARD:0006610]
xref: COHD:196455 {source="MONDO:equivalentTo"}
xref: DOID:11823 {source="MONDO:equivalentTo"}
xref: GARD:0006610 {source="MONDO:equivalentTo"}
xref: ICD10:K76.7 {source="DOID:11823", source="MONDO:equivalentTo"}
xref: ICD9:572.4 {source="DOID:11823", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006530 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C113400 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:51292008 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0019212 {source="DOID:11823", source="MONDO:equivalentTo", source="NCIT:C113400"}
is_a: MONDO:0002254 {source="MONDOLEX:0001382", source="NCIT:C113400"} ! syndromic disease
is_a: MONDO:0005154 {source="DOID:11823", source="MESH:D006530", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease
relationship: disease_has_feature MONDO:0001106 ! kidney failure
relationship: excluded_subClassOf MONDO:0002492 {source="DOID:11823"} ! acute kidney failure
property_value: exactMatch DOID:11823
property_value: exactMatch http://identifiers.org/mesh/D006530
property_value: exactMatch http://identifiers.org/snomedct/51292008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019212
property_value: exactMatch NCIT:C113400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome xsd:anyURI {source="GARD:0006610"}

[Term]
id: MONDO:0001383
name: degenerative myopia
def: "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." [MESH:D047728]
synonym: "degenerative progressive high myopia" EXACT [DOID:11829]
synonym: "pathological myopia" EXACT [DOID:11829]
synonym: "progressive high (degenerative) myopia" EXACT [DOID:11829, ICD9CM_2006:360.21]
synonym: "progressive high myopia" EXACT [DOID:11829, MTHICD9_2006:360.21]
xref: COHD:381281 {source="MONDO:equivalentTo"}
xref: DOID:11829 {source="MONDO:equivalentTo"}
xref: EFO:0004207 {source="MONDO:equivalentTo", source="DOID:11829"}
xref: ICD10:H44.2 {source="MONDO:equivalentTo", source="DOID:11829"}
xref: ICD9:360.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:11829"}
xref: MESH:D047728 {source="MONDO:equivalentTo", source="DOID:11829", source="MONDO:ontobio"}
xref: SCTID:32022003 {source="MONDO:equivalentTo", source="DOID:11829", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154778 {source="MONDO:equivalentTo", source="DOID:11829"}
is_a: MONDO:0001384 {source="DOID:11829", source="MESH:D047728", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopia (disease)
is_a: MONDO:0004884 {source="DOID:11829", source="linkedlifedata"} ! eye degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193276002
property_value: closeMatch http://identifiers.org/snomedct/193278001
property_value: closeMatch http://identifiers.org/snomedct/193625005
property_value: exactMatch DOID:11829
property_value: exactMatch http://identifiers.org/mesh/D047728
property_value: exactMatch http://identifiers.org/snomedct/32022003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154778

[Term]
id: MONDO:0001384
name: myopia (disease)
def: "The condition in which the individual does not see far distances clearly." [NCIT:P378]
synonym: "myopia" EXACT [MONDO:ambiguous]
synonym: "near vision" EXACT [CSP2005:1116-2455, DOID:11830]
synonym: "near-sightedness" EXACT [DOID:11830, MTHICD9_2006:367.1]
synonym: "short-sightedness" EXACT [DOID:11830]
xref: COHD:379805 {source="MONDO:equivalentTo"}
xref: DOID:11830 {source="MONDO:equivalentTo"}
xref: EFO:0003927 {source="DOID:11830", source="MONDO:equivalentObsolete"}
xref: HP:0000545 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H52.1 {source="DOID:11830", source="MONDO:equivalentTo"}
xref: ICD9:367.1 {source="DOID:11830", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009216 {source="DOID:11830", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:160700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:57190000 {source="DOID:11830", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0027092 {source="DOID:11830", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004892 {source="DOID:11830", source="MESH:D009216", source="linkedlifedata"} ! refractive error
property_value: closeMatch http://identifiers.org/snomedct/155133003
property_value: exactMatch DOID:11830
property_value: exactMatch http://identifiers.org/mesh/D009216
property_value: exactMatch http://identifiers.org/snomedct/57190000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027092
property_value: exactMatch NCIT:C102533

[Term]
id: MONDO:0001385
name: cortical blindness
def: "Visual impairment due to visual cortex dysfunction." [NCIT:P378]
xref: COHD:253482 {source="MONDO:equivalentTo"}
xref: DOID:11831 {source="MONDO:equivalentTo"}
xref: ICD10:H47.61 {source="DOID:11831"}
xref: ICD9:377.75 {source="DOID:11831", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019575 {source="DOID:11831", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118707 {source="DOID:11831", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:68574006 {source="DOID:11831", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155320 {source="DOID:11831", source="MONDO:equivalentTo", source="NCIT:C118707"}
is_a: MONDO:0001941 {source="MESH:D019575", source="MONDO:Redundant", source="NCIT:C118707", source="linkedlifedata"} ! blindness (disorder)
is_a: MONDO:0003584 {source="DOID:11831", source="linkedlifedata"} ! visual cortex disease
property_value: exactMatch DOID:11831
property_value: exactMatch http://identifiers.org/mesh/D019575
property_value: exactMatch http://identifiers.org/snomedct/68574006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155320
property_value: exactMatch NCIT:C118707

[Term]
id: MONDO:0001386
name: visual epilepsy
def: "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'" [MESH:D012640]
synonym: "epilepsy, visual" EXACT [DOID:11832, MTHICD9_2006:345.5]
xref: DOID:11832 {source="MONDO:equivalentTo"}
xref: MESH:D012640 {source="DOID:11832", source="MONDO:equivalentTo"}
xref: NCIT:C3980 {source="DOID:11832", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:39194005 {source="DOID:11832", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270824 {source="DOID:11832", source="MONDO:equivalentTo", source="NCIT:C3980"}
is_a: MONDO:0003584 {source="DOID:11832", source="linkedlifedata"} ! visual cortex disease
is_a: MONDO:0017768 {source="NCIT:C3980"} ! reflex epilepsy
property_value: exactMatch DOID:11832
property_value: exactMatch http://identifiers.org/mesh/D012640
property_value: exactMatch http://identifiers.org/snomedct/39194005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270824
property_value: exactMatch NCIT:C3980

[Term]
id: MONDO:0001387
name: penile sarcoma
def: "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma." [NCIT:C7730]
synonym: "penile sarcoma" EXACT [NCIT:C7730]
synonym: "penis sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of penis" EXACT [DOID:11838, MONDO:patterns/sarcoma, NCIT:C7730]
synonym: "sarcoma of the penis" EXACT [NCIT:C7730]
xref: DOID:11838 {source="MONDO:equivalentTo"}
xref: NCIT:C7730 {source="MONDO:equivalentTo", source="DOID:11838"}
xref: UMLS:C0238352 {source="NCIT:C7730", source="MONDO:equivalentTo", source="DOID:11838"}
is_a: MONDO:0001325 {source="DOID:11838", source="MONDO:Redundant", source="NCIT:C7730"} ! penile cancer
is_a: MONDO:0018078 {source="NCIT:C7730"} ! soft tissue sarcoma
property_value: exactMatch DOID:11838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238352
property_value: exactMatch NCIT:C7730

[Term]
id: MONDO:0001388
name: glans penis cancer
def: "A malignant neoplasm involving the glans penis." [MONDO:DesignPattern]
synonym: "cancer of glans penis" EXACT [MONDO:patterns/cancer]
synonym: "glans penis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glans penis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of glans penis" EXACT [DOID:11839, ICD9CM_2006:187.2, MONDO:patterns/cancer]
synonym: "malignant tumor of glans penis" EXACT [DOID:11839]
synonym: "malignant tumour of glans penis" EXACT [DOID:11839]
xref: DOID:11839 {source="MONDO:equivalentTo"}
xref: ICD10:C60.1 {source="DOID:11839"}
xref: ICD9:187.2 {source="MONDO:equivalentTo", source="DOID:11839", source="i2s"}
xref: SCTID:363451005 {source="MONDO:equivalentTo", source="DOID:11839", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153599 {source="MONDO:equivalentTo", source="DOID:11839"}
is_a: MONDO:0001325 {source="DOID:11839", source="MONDO:Redundant", source="MONDOLEX:0001388", source="linkedlifedata"} ! penile cancer
property_value: closeMatch http://identifiers.org/snomedct/93813005
property_value: exactMatch DOID:11839
property_value: exactMatch http://identifiers.org/snomedct/363451005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153599

[Term]
id: MONDO:0001389
name: congenital coronary artery anomaly
synonym: "congenital anomaly of coronary artery" EXACT [DOID:11843]
synonym: "coronary artery abnormality" EXACT [DOID:11843]
synonym: "coronary artery abnormality [ambiguous]" EXACT [DOID:11843]
synonym: "coronary artery anomaly" EXACT [DOID:11843]
synonym: "coronary artery anomaly, congenital" EXACT [DOID:11843, ICD9CM_2006:746.85]
xref: COHD:321109 {source="MONDO:equivalentTo"}
xref: DOID:11843 {source="MONDO:equivalentTo"}
xref: ICD9:746.85 {source="DOID:11843", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:28574005 {source="DOID:11843", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005010 {source="DOID:11843", source="linkedlifedata"} ! coronary artery disease
is_a: MONDO:0005453 {source="linkedlifedata"} ! congenital heart disease
property_value: closeMatch http://identifiers.org/snomedct/204373000
property_value: closeMatch http://identifiers.org/snomedct/204380003
property_value: closeMatch http://identifiers.org/snomedct/361215006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158623
property_value: exactMatch DOID:11843
property_value: exactMatch http://identifiers.org/snomedct/28574005

[Term]
id: MONDO:0001390
name: transient refractive change
xref: COHD:380727 {source="MONDO:equivalentTo"}
xref: DOID:11850 {source="MONDO:equivalentTo"}
xref: ICD9:367.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:11850"}
xref: SCTID:81519008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11850"}
xref: UMLS:C0155000 {source="MONDO:equivalentTo", source="DOID:11850"}
is_a: MONDO:0004892 {source="DOID:11850", source="linkedlifedata"} ! refractive error
property_value: exactMatch DOID:11850
property_value: exactMatch http://identifiers.org/snomedct/81519008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155000

[Term]
id: MONDO:0001391
name: indeterminate leprosy
def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [DOID:11851, http://emedicine.medscape.com/article/1104977-clinical#a0217]
synonym: "indeterminate leprosy [group I]" EXACT [DOID:11851, ICD9CM_2006:030.2]
synonym: "uncharacteristic leprosy" EXACT [DOID:11851, MTHICD9_2006:030.2]
xref: DOID:11851 {source="MONDO:equivalentTo"}
xref: ICD10:A30.0 {source="MONDO:equivalentTo", source="DOID:11851"}
xref: ICD9:030.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11851"}
xref: SCTID:14386001 {source="MONDO:equivalentTo", source="DOID:11851", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0021192 {source="MONDO:equivalentTo", source="DOID:11851"}
is_a: MONDO:0005124 {source="DOID:11851", source="ICD10:A30.0", source="linkedlifedata"} ! leprosy
property_value: exactMatch DOID:11851
property_value: exactMatch http://identifiers.org/snomedct/14386001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021192

[Term]
id: MONDO:0001392
name: monocular exotropia
xref: COHD:375274 {source="MONDO:equivalentTo"}
xref: DOID:11853 {source="MONDO:equivalentTo"}
xref: ICD10:H50.11 {source="DOID:11853"}
xref: ICD9:378.11 {source="DOID:11853", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:5725006 {source="DOID:11853", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152206 {source="DOID:11853", source="MONDO:equivalentTo"}
is_a: MONDO:0001286 {source="DOID:11853", source="MONDOLEX:0001392"} ! exotropia
property_value: closeMatch http://identifiers.org/snomedct/194087008
property_value: exactMatch DOID:11853
property_value: exactMatch http://identifiers.org/snomedct/5725006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152206

[Term]
id: MONDO:0001393
name: peripheral focal chorioretinitis
xref: DOID:11864 {source="MONDO:equivalentTo"}
xref: ICD9:363.04 {source="DOID:11864", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:56787009 {source="DOID:11864", source="MONDO:kboom-pr-1.00/0.79/8.24", source="MONDO:equivalentTo"}
xref: UMLS:C0339394 {source="DOID:11864", source="MONDO:equivalentTo"}
is_a: MONDO:0002164 {source="DOID:11864", source="MONDOLEX:0001393", source="linkedlifedata"} ! focal chorioretinitis
property_value: exactMatch DOID:11864
property_value: exactMatch http://identifiers.org/snomedct/56787009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339394

[Term]
id: MONDO:0001394
name: chronic erythremia
xref: DOID:11868 {source="MONDO:equivalentTo"}
xref: ICD9:207.1 {source="DOID:11868"}
is_a: MONDO:0005059 {source="DOID:11868"} ! leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/188753004
property_value: closeMatch http://identifiers.org/snomedct/190042004
property_value: closeMatch http://identifiers.org/snomedct/269478004
property_value: closeMatch http://identifiers.org/snomedct/48292007
property_value: closeMatch http://identifiers.org/snomedct/92810002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152272
property_value: exactMatch DOID:11868

[Term]
id: MONDO:0001395
name: macular keratitis
xref: DOID:11871 {source="MONDO:equivalentTo"}
xref: ICD10:H16.11 {source="DOID:11871"}
xref: ICD9:370.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:11871"}
xref: SCTID:2853006 {source="MONDO:equivalentTo", source="DOID:11871", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155076 {source="MONDO:equivalentTo", source="DOID:11871"}
is_a: MONDO:0003085 {source="DOID:11871", source="linkedlifedata"} ! keratitis
property_value: closeMatch http://identifiers.org/snomedct/193769006
property_value: exactMatch DOID:11871
property_value: exactMatch http://identifiers.org/snomedct/2853006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155076

[Term]
id: MONDO:0001396
name: abnormal threshold of rods
synonym: "abnormal dark adaptation curve" EXACT [DOID:11874, ICD9CM_2006:368.63]
xref: DOID:11874 {source="MONDO:equivalentTo"}
xref: ICD10:H53.61 {source="DOID:11874", source="MONDO:equivalentTo"}
xref: ICD9:368.63 {source="DOID:11874", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:50455002 {source="DOID:11874", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155019 {source="DOID:11874", source="MONDO:equivalentTo"}
is_a: MONDO:0004588 {source="DOID:11874", source="ICD10:H53.61", source="linkedlifedata"} ! night blindness
property_value: closeMatch http://identifiers.org/snomedct/193692003
property_value: exactMatch DOID:11874
property_value: exactMatch http://identifiers.org/snomedct/50455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155019

[Term]
id: MONDO:0001397
name: mononeuropathy
def: "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions." [MESH:D020422]
xref: COHD:4134455 {source="MONDO:equivalentTo"}
xref: DOID:1188 {source="MONDO:equivalentTo"}
xref: ICD10:G58.9 {source="DOID:1188"}
xref: MESH:D020422 {source="DOID:1188", source="MONDO:equivalentTo"}
xref: SCTID:128189008 {source="DOID:1188", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0494491 {source="DOID:1188", source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="DOID:1188", source="MONDOLEX:0001397", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/304595001
property_value: exactMatch DOID:1188
property_value: exactMatch http://identifiers.org/mesh/D020422
property_value: exactMatch http://identifiers.org/snomedct/128189008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494491

[Term]
id: MONDO:0001398
name: ureter benign neoplasm
def: "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." [MESH:D014516]
synonym: "benign neoplasm of the ureter" EXACT [NCIT:C3617]
synonym: "benign neoplasm of ureter" EXACT [NCIT:C3617]
synonym: "benign tumor of the ureter" EXACT [NCIT:C3617]
synonym: "benign tumor of ureter" EXACT [NCIT:C3617]
synonym: "benign ureter neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureter tumor" EXACT [NCIT:C3617]
synonym: "benign ureteral neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureteral tumor" EXACT [NCIT:C3617]
synonym: "benign ureteric neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [NCIT:C3617]
synonym: "neoplasm of ureter" EXACT EXCLUDE [DOID:11885]
synonym: "ureter benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "ureteral benign neoplasm" RELATED [DOID:11885]
synonym: "ureteral tumor" BROAD [DOID:11885, NCIT:C3427]
xref: COHD:198103 {source="MONDO:equivalentTo"}
xref: DOID:11885 {source="MONDO:equivalentTo"}
xref: ICD9:223.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3617 {source="MONDO:equivalentTo"}
xref: SCTID:92464009 {source="MONDO:equivalentTo"}
is_a: MONDO:0004180 {source="DOID:11885", source="MONDO:Redundant", source="NCIT:C3617", source="linkedlifedata"} ! benign urinary system neoplasm
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C3617", source="OWLReasoner:2017", source="linkedlifedata"} ! ureter neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041955
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154016
property_value: exactMatch DOID:11885
property_value: exactMatch http://identifiers.org/snomedct/92464009
property_value: exactMatch NCIT:C3617

[Term]
id: MONDO:0001399
name: ureter leiomyoma
def: "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6161]
synonym: "leiomyoma of the ureter" EXACT [NCIT:C6161]
synonym: "leiomyoma of ureter" EXACT [NCIT:C6161]
synonym: "ureter leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6161]
synonym: "ureteral leiomyoma" EXACT [DOID:11887, NCIT:C6161]
xref: DOID:11887 {source="MONDO:equivalentTo"}
xref: NCIT:C6161 {source="DOID:11887", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336875 {source="DOID:11887", source="MONDO:equivalentTo", source="NCIT:C6161"}
is_a: MONDO:0001398 {source="DOID:11887", source="MONDO:Redundant", source="NCIT:C6161"} ! ureter benign neoplasm
is_a: MONDO:0001572 {source="DOID:11887", source="MONDO:Redundant", source="NCIT:C6161"} ! leiomyoma
property_value: exactMatch DOID:11887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336875
property_value: exactMatch NCIT:C6161

[Term]
id: MONDO:0001400
name: schwannoma of ureter
def: "A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter." [NCIT:P378]
synonym: "neurilemmoma of the ureter" EXACT [NCIT:C6162]
synonym: "neurilemmoma of ureter" EXACT [NCIT:C6162]
synonym: "schwannoma of the ureter" EXACT [NCIT:C6162]
synonym: "ureter neurilemmoma" EXACT [NCIT:C6162]
synonym: "ureter schwannoma" EXACT [MONDO:patterns/location]
synonym: "ureteral neurilemmoma" EXACT [NCIT:C6162]
synonym: "ureteral schwannoma" EXACT [DOID:11888, NCIT:C6162]
xref: DOID:11888 {source="MONDO:equivalentTo"}
xref: NCIT:C6162 {source="DOID:11888", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336877 {source="DOID:11888", source="MONDO:equivalentTo", source="NCIT:C6162"}
is_a: MONDO:0000638 ! benign glioma
is_a: MONDO:0001398 {source="DOID:11888", source="MONDO:Entailed", source="NCIT:C6162"} ! ureter benign neoplasm
is_a: MONDO:0004820 {source="DOID:11888", source="NCIT:C6162"} ! peripheral nerve schwannoma
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch DOID:11888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336877
property_value: exactMatch NCIT:C6162

[Term]
id: MONDO:0001401
name: female breast nipple and areola cancer
synonym: "malignant neoplasm of nipple and areola of female breast" EXACT [DOID:11889]
synonym: "malignant neoplasm of nipple or areola of female breast" EXACT [DOID:11889]
xref: DOID:11889 {source="MONDO:equivalentTo"}
xref: ICD9:174.0 {source="DOID:11889", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188147009 {source="DOID:11889", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024621 {source="MEDGEN:kboom-pr98-c99", source="DOID:11889", source="MONDO:equivalentTo"}
is_a: MONDO:0004379 {source="DOID:11889", source="linkedlifedata"} ! female breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/188150007
property_value: exactMatch DOID:11889
property_value: exactMatch http://identifiers.org/snomedct/188147009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024621

[Term]
id: MONDO:0001402
name: vaginal cancer
def: "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." [NCIT:C7410]
subset: gard_rare {source="GARD:0009348"}
synonym: "cancer of vagina" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410]
synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM_2006:184.0, MONDO:patterns/cancer, NCIT:C7410]
synonym: "malignant tumor of the vagina" EXACT [NCIT:C7410]
synonym: "malignant tumor of vagina" EXACT [NCIT:C7410]
synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410]
synonym: "malignant vagina tumor" EXACT [NCIT:C7410]
synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410]
synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410]
synonym: "neoplasm of vagina" EXACT EXCLUDE [DOID:119]
synonym: "vagina cancer" EXACT [MONDO:patterns/location]
synonym: "vagina neoplasm" BROAD [CSP2005:2016-2004, DOID:119]
synonym: "vaginal tumor" BROAD [DOID:119, NCIT:C3437]
xref: DOID:119 {source="MONDO:equivalentTo"}
xref: GARD:0009348 {source="MONDO:equivalentTo"}
xref: ICD10:C52 {source="DOID:119"}
xref: ICD9:184.0 {source="DOID:119", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014625 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7410 {source="DOID:119", source="MONDO:equivalentTo"}
xref: SCTID:363445000 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"}
is_a: MONDO:0001416 {source="DOID:119", source="MONDO:Redundant", source="NCIT:C7410", source="linkedlifedata/inferred"} ! female reproductive organ cancer
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C7410", source="OWLReasoner:2017", source="linkedlifedata"} ! vaginal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154534007
property_value: closeMatch http://identifiers.org/snomedct/188210000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042237
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042258
property_value: exactMatch DOID:119
property_value: exactMatch http://identifiers.org/mesh/D014625
property_value: exactMatch http://identifiers.org/snomedct/363445000
property_value: exactMatch NCIT:C7410
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer xsd:anyURI {source="GARD:0009348"}

[Term]
id: MONDO:0001403
name: labium majus cancer
def: "A malignant neoplasm involving the labium majora." [MONDO:DesignPattern]
synonym: "cancer of labium majora" EXACT [MONDO:patterns/cancer]
synonym: "labium majora cancer" EXACT [MONDO:patterns/location]
synonym: "malignant labia majora neoplasm" EXACT [NCIT:C7638]
synonym: "malignant labia majora tumor" EXACT [NCIT:C7638]
synonym: "malignant labium majora neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labia majora" EXACT [DOID:11905, ICD9CM_2006:184.1, NCIT:C7638]
synonym: "malignant neoplasm of labium majora" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the labia majora" EXACT [NCIT:C7638]
synonym: "malignant tumor of labia majora" EXACT [DOID:11905, NCIT:C7638]
synonym: "malignant tumor of the labia majora" EXACT [NCIT:C7638]
xref: COHD:4178970 {source="MONDO:equivalentTo"}
xref: DOID:11905 {source="MONDO:equivalentTo"}
xref: ICD10:C51.0 {source="DOID:11905"}
xref: ICD9:184.1 {source="MONDO:equivalentTo", source="DOID:11905", source="i2s"}
xref: NCIT:C7638 {source="MONDO:equivalentTo", source="DOID:11905", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:363446004 {source="MONDO:equivalentTo", source="DOID:11905", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0496814 {source="MONDO:equivalentTo", source="DOID:11905", source="NCIT:C7638"}
is_a: MONDO:0001528 {source="DOID:11905", source="MONDO:Redundant", source="NCIT:C7638", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0002898 {source="DOID:11905", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin cancer
property_value: closeMatch http://identifiers.org/snomedct/188212008
property_value: closeMatch http://identifiers.org/snomedct/93850006
property_value: exactMatch DOID:11905
property_value: exactMatch http://identifiers.org/snomedct/363446004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496814
property_value: exactMatch NCIT:C7638

[Term]
id: MONDO:0001404
name: ecthyma
def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473]
xref: DOID:11907 {source="MONDO:equivalentTo"}
xref: EFO:1000689 {source="MONDO:equivalentTo"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004473 {source="MONDO:equivalentTo", source="DOID:11907", source="MONDO:ontobio"}
xref: SCTID:85791004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11907"}
xref: UMLS:C0013568 {source="MONDO:equivalentTo", source="DOID:11907"}
is_a: MONDO:0004592 {source="DOID:11907", source="EFO:1000689", source="linkedlifedata"} ! impetigo
property_value: exactMatch DOID:11907
property_value: exactMatch http://identifiers.org/mesh/D004473
property_value: exactMatch http://identifiers.org/snomedct/85791004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013568

[Term]
id: MONDO:0001405
name: dermatophytosis of groin and perianal area
def: "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area." [NCIT:C34535]
synonym: "dermatophytosis of groin & perianal area" EXACT [DOID:11917]
synonym: "dermatophytosis of groin and perianal area" EXACT [DOID:11917, NCIT:C34535]
synonym: "Dhobie itch" EXACT [DOID:11917]
synonym: "tinea cruris" RELATED [DOID:11917]
xref: DOID:11917 {source="MONDO:equivalentTo"}
xref: ICD9:110.3 {source="DOID:11917"}
xref: NCIT:C34535 {source="MONDO:equivalentTo", source="DOID:11917"}
xref: SCTID:399029005 {source="MONDO:equivalentTo"}
xref: UMLS:C0011638 {source="MONDO:equivalentTo", source="DOID:11917", source="NCIT:C34535"}
is_a: MONDO:0004678 {source="DOID:11917", source="NCIT:C34535", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis
property_value: closeMatch http://identifiers.org/snomedct/186989008
property_value: closeMatch http://identifiers.org/snomedct/186992007
property_value: closeMatch http://identifiers.org/snomedct/266150008
property_value: closeMatch http://identifiers.org/snomedct/59089002
property_value: exactMatch DOID:11917
property_value: exactMatch http://identifiers.org/snomedct/399029005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011638
property_value: exactMatch NCIT:C34535

[Term]
id: MONDO:0001406
name: peripheral nervous system neoplasm
def: "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." [NCIT:C3321]
synonym: "CNS-excluded nervous sys. cancer" EXACT [NCIT:C3321]
synonym: "CNS-excluded nervous sys. cancer" NARROW [NCIT:C3321]
synonym: "CNS-excluded nervous system cancer, NOS" NARROW [NCIT:C3321]
synonym: "CNS-excluded nervous system cancer, NOS" RELATED EXCLUDE [NCIT:C3321]
synonym: "neoplasm of peripheral nerve" EXACT [NCIT:C3321]
synonym: "neoplasm of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "neoplasm of PNS" EXACT [NCIT:C3321]
synonym: "neoplasm of the peripheral nerve" EXACT [NCIT:C3321]
synonym: "neoplasm of the peripheral nervous system" EXACT [NCIT:C3321]
synonym: "neoplasm of the PNS" EXACT [NCIT:C3321]
synonym: "neoplasms, peripheral nervous system" EXACT [NCIT:C3321]
synonym: "neoplasms, PNS" EXACT [NCIT:C3321]
synonym: "nerve sheath neoplasm" NARROW [CSP2005:2012-6947, DOID:1192]
synonym: "nerve sheath tumors" NARROW [DOID:1192]
synonym: "peripheral nerve neoplasm" EXACT [NCIT:C3321]
synonym: "peripheral nerve tumor" EXACT [NCIT:C3321]
synonym: "peripheral nervous system neoplasm" EXACT [NCIT:C3321]
synonym: "peripheral nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "peripheral nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "PNS neoplasm" EXACT [NCIT:C3321]
synonym: "PNS neoplasms" EXACT [NCIT:C3321]
synonym: "PNS tumor" EXACT [NCIT:C3321]
synonym: "tumor of peripheral nerve" EXACT [NCIT:C3321]
synonym: "tumor of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "tumor of PNS" EXACT [DOID:1192, NCIT:C3321]
synonym: "tumor of the peripheral nerve" EXACT [NCIT:C3321]
synonym: "tumor of the peripheral nervous system" EXACT [NCIT:C3321]
synonym: "tumor of the PNS" EXACT [NCIT:C3321]
xref: DOID:1192 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010524 {source="MONDO:equivalentTo", source="DOID:1192"}
xref: NCIT:C3321 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:1192"}
xref: ONCOTREE:PNS {source="MONDO:equivalentTo"}
xref: SCTID:126980002 {source="DesignPattern", source="MONDO:kboom-pr-1.00/0.91/29.27", source="MONDO:equivalentTo", source="DOID:1192"}
xref: UMLS:C0031118 {source="MONDO:equivalentTo", source="NCIT:C3321", source="DOID:1192"}
is_a: MONDO:0003620 {source="MESH:D010524", source="MONDO:Redundant", source="NCIT:C3321", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
is_a: MONDO:0021248 {source="MONDO:Redundant", source="MONDOLEX:0001406", source="NCIT:C3321"} ! nervous system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/115242003
property_value: closeMatch http://identifiers.org/snomedct/134214003
property_value: closeMatch http://identifiers.org/snomedct/189946005
property_value: closeMatch http://identifiers.org/snomedct/189953001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206417
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206727
property_value: closeMatch NCIT:C12465
property_value: exactMatch DOID:1192
property_value: exactMatch http://identifiers.org/mesh/D010524
property_value: exactMatch http://identifiers.org/snomedct/126980002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031118
property_value: exactMatch NCIT:C3321

[Term]
id: MONDO:0001407
name: tracheal cancer
def: "A malignant neoplasm involving the trachea" [MONDO:DesignPattern]
synonym: "Ca trachea" EXACT [DOID:11920]
synonym: "cancer of trachea" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the trachea" EXACT [NCIT:C9346]
synonym: "malignant neoplasm of trachea" EXACT [DOID:11920, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346]
synonym: "malignant trachea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9346]
synonym: "malignant trachea tumor" EXACT [NCIT:C9346]
synonym: "malignant tracheal neoplasm" EXACT [NCIT:C9346]
synonym: "malignant tracheal tumor" EXACT [DOID:11920, NCIT:C9346]
synonym: "malignant tumor of the trachea" EXACT [NCIT:C9346]
synonym: "malignant tumor of trachea" EXACT [NCIT:C9346]
synonym: "trachea cancer" EXACT [MONDO:patterns/location]
synonym: "tracheal neoplasm" BROAD [DOID:11920]
xref: COHD:4177112 {source="MONDO:equivalentTo"}
xref: DOID:11920 {source="MONDO:equivalentTo"}
xref: ICD10:C33 {source="DOID:11920", source="MONDO:equivalentTo"}
xref: ICD9:162.0 {source="DOID:11920", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9346 {source="DOID:11920", source="MONDO:kboom-pr-0.94/0.76/1.73", source="MONDO:equivalentTo"}
xref: SCTID:363432004 {source="DOID:11920", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.92/3.06"}
xref: UMLS:C0153489 {source="DOID:11920", source="NCIT:C9346", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 {source="DOID:11920", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer
is_a: MONDO:0021210 {source="MONDO:Redundant", source="MONDOLEX:0001407", source="NCIT:C9346"} ! trachea neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187855003
property_value: closeMatch http://identifiers.org/snomedct/269562004
property_value: exactMatch DOID:11920
property_value: exactMatch http://identifiers.org/snomedct/363432004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153489
property_value: exactMatch NCIT:C9346

[Term]
id: MONDO:0001408
name: ischemic neuropathy
def: "Neuropathy that is caused by inadequate blood supply." [NCIT:P378]
synonym: "ischemic peripheral neuropathy" EXACT [DOID:1195]
xref: DOID:1195 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27025 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1195"}
xref: SCTID:129611009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.20", source="DOID:1195"}
xref: UMLS:C0238309 {source="NCIT:C27025", source="MONDO:equivalentTo", source="DOID:1195"}
is_a: MONDO:0005244 {source="DOID:1195", source="MONDOLEX:0001408", source="NCIT:C27025", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/230599000
property_value: exactMatch DOID:1195
property_value: exactMatch http://identifiers.org/snomedct/129611009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238309
property_value: exactMatch NCIT:C27025

[Term]
id: MONDO:0001409
name: esophagitis (disease)
def: "An acute or chronic inflammatory disease affecting the esophageal wall." [NCIT:C9224] {modified_by="MONDO:cjm"}
synonym: "acute esophagitis" NARROW [DOID:11963]
synonym: "esophagitis" EXACT [MONDO:ambiguous]
synonym: "esophagus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of esophagus" EXACT []
xref: DOID:11963 {source="MONDO:equivalentTo"}
xref: HP:0100633 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K20 {source="DOID:11963"}
xref: ICD10:K20.9 {source="DOID:11963"}
xref: ICD9:530.1 {source="DOID:11963"}
xref: ICD9:530.10 {source="DOID:11963"}
xref: ICD9:530.12 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004941 {source="DOID:11963", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9224 {source="DOID:11963", source="MONDO:equivalentTo"}
xref: SCTID:16761005 {source="DOID:11963", source="MONDO:equivalentTo"}
xref: UMLS:C0014868 {source="DOID:11963", source="NCIT:C9224", source="MONDO:equivalentTo"}
xref: UMLS:C0149882 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="DOID:11963", source="MESH:D004941", source="MONDO:Redundant", source="NCIT:C9224/inferred", source="OWLReasoner:2017", source="linkedlife", source="linkedlifedata/inferred"} ! esophageal disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155673008
property_value: closeMatch http://identifiers.org/snomedct/196605000
property_value: closeMatch http://identifiers.org/snomedct/266498005
property_value: exactMatch DOID:11963
property_value: exactMatch http://identifiers.org/mesh/D004941
property_value: exactMatch http://identifiers.org/snomedct/16761005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149882
property_value: exactMatch NCIT:C9224

[Term]
id: MONDO:0001410
name: postmenopausal atrophic vaginitis
def: "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." [MESH:D059268]
synonym: "atrophic vaginitis" EXACT [DOID:11968]
synonym: "senile vaginitis" EXACT [DOID:11968, MTHICD9_2006:627.3]
xref: COHD:201078 {source="MONDO:equivalentTo"}
xref: DOID:11968 {source="MONDO:equivalentTo"}
xref: EFO:1001271 {source="MONDO:equivalentTo"}
xref: ICD10:N95.2 {source="MONDO:equivalentTo", source="DOID:11968"}
xref: ICD9:627.3 {source="MONDO:equivalentTo", source="DOID:11968", source="i2s"}
xref: MESH:D059268 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:52441000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="DOID:11968"}
xref: UMLS:C0156409 {source="MONDO:equivalentTo", source="DOID:11968"}
xref: UMLS:C0221392 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002234 {source="DOID:11968", source="EFO:1001271", source="MESH:D059268", source="linkedlifedata"} ! vaginitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/156054004
property_value: exactMatch DOID:11968
property_value: exactMatch http://identifiers.org/mesh/D059268
property_value: exactMatch http://identifiers.org/snomedct/52441000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221392

[Term]
id: MONDO:0001411
name: synostosis
def: "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue." [https://en.wikipedia.org/wiki/Synostosis, MESH:D013580]
xref: DOID:11971 {source="MONDO:equivalentTo"}
xref: MESH:D013580 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11971"}
is_a: MONDO:0018234 {source="DOID:11971", source="MESH:D013580"} ! dysostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039093
property_value: exactMatch DOID:11971
property_value: exactMatch http://identifiers.org/mesh/D013580

[Term]
id: MONDO:0001412
name: conjunctival concretion
xref: COHD:381020 {source="MONDO:equivalentTo"}
xref: DOID:11988 {source="MONDO:equivalentTo"}
xref: ICD10:H11.12 {source="DOID:11988"}
xref: ICD9:372.54 {source="DOID:11988", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:13706005 {source="DOID:11988", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001331 {source="DOID:11988", source="linkedlifedata"} ! conjunctival deposit
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155162
property_value: exactMatch DOID:11988
property_value: exactMatch http://identifiers.org/snomedct/13706005

[Term]
id: MONDO:0001413
name: ulceroglandular tularemia
def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion." [DOID:11990, http://emedicine.medscape.com/article/230923-clinical, http://www.cdc.gov/tularemia/signssymptoms/]
xref: DOID:11990 {source="MONDO:equivalentTo"}
xref: ICD10:A21.0 {source="MONDO:equivalentTo", source="DOID:11990"}
xref: ICD9:021.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11990"}
xref: SCTID:37722001 {source="MONDO:equivalentTo", source="DOID:11990", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152941 {source="MONDO:equivalentTo", source="DOID:11990"}
is_a: MONDO:0018077 {source="DOID:11990", source="ICD10:A21.0", source="linkedlifedata", source="linkedlifedata/inferred"} ! tularemia
property_value: exactMatch DOID:11990
property_value: exactMatch http://identifiers.org/snomedct/37722001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152941

[Term]
id: MONDO:0001414
name: osteopoikilosis (disease)
def: "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." [NCIT:P378]
subset: gard_rare
synonym: "osteopathia condensans disseminata" RELATED [GARD:0004158]
synonym: "osteopoikilosis" EXACT [MONDO:ambiguous]
synonym: "spotted bones" RELATED [GARD:0004158]
xref: DOID:11991 {source="MONDO:equivalentTo"}
xref: GARD:0004158 {source="MONDO:equivalentTo"}
xref: HP:0010739 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q78.8 {source="DOID:11991"}
xref: ICD9:756.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:11991"}
xref: MESH:D010023 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11991"}
xref: NCIT:C84985 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11991"}
xref: SCTID:9147009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.07", source="DOID:11991"}
is_a: MONDO:0002933 {source="DOID:11991", source="MESH:D010023"} ! osteosclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029455
property_value: exactMatch DOID:11991
property_value: exactMatch http://identifiers.org/mesh/D010023
property_value: exactMatch http://identifiers.org/snomedct/9147009
property_value: exactMatch NCIT:C84985

[Term]
id: MONDO:0001415
name: atrophy of testis
def: "Loss of testicular volume." [NCIT:P378]
synonym: "testicular atrophy" EXACT [NCIT:C123259]
xref: COHD:438477 {source="MONDO:equivalentTo"}
xref: DOID:11994 {source="MONDO:equivalentTo"}
xref: ICD10:N50.0 {source="MONDO:equivalentTo", source="DOID:11994"}
xref: ICD9:608.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:11994"}
xref: NCIT:C123259 {source="MONDO:equivalentTo", source="DOID:11994"}
xref: SCTID:17585008 {source="MONDO:equivalentTo", source="DOID:11994", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156312 {source="MONDO:equivalentTo", source="DOID:11994"}
is_a: MONDO:0002329 {source="DOID:11994", source="NCIT:C123259/inferred", source="linkedlifedata"} ! testicular disease
property_value: closeMatch http://identifiers.org/snomedct/155938008
property_value: closeMatch http://identifiers.org/snomedct/249242001
property_value: exactMatch DOID:11994
property_value: exactMatch http://identifiers.org/snomedct/17585008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156312
property_value: exactMatch NCIT:C123259

[Term]
id: MONDO:0001416
name: female reproductive organ cancer
def: "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." [NCIT:C4913]
synonym: "cancer of female reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "female reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C4913]
synonym: "female reproductive cancer" EXACT [DOID:120, NCIT:C4913]
synonym: "female reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "female reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C4913]
synonym: "gynecologic cancer" EXACT [NCIT:C4913]
synonym: "malignant female reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant female reproductive system neoplasm" EXACT [NCIT:C4913]
synonym: "malignant female reproductive system tumor" EXACT [NCIT:C4913]
synonym: "malignant gynecologic neoplasm" EXACT [NCIT:C4913]
synonym: "malignant gynecologic tumor" EXACT [DOID:120, NCIT:C4913]
synonym: "malignant neoplasm of female genital organ" EXACT [DOID:120]
synonym: "malignant neoplasm of female reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant neoplasm of the female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant tumor of female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant tumor of the female reproductive system" EXACT [NCIT:C4913]
xref: DOID:120 {source="MONDO:equivalentTo"}
xref: ICD10:C51.C58 {source="MONDO:equivalentTo"}
xref: ICD10:C57 {source="DOID:120"}
xref: ICD9:184 {source="DOID:120"}
xref: NCIT:C4913 {source="MONDO:equivalentTo", source="DOID:120"}
xref: SCTID:126907002 {source="MONDO:equivalentTo", source="DOID:120"}
is_a: MONDO:0002149 {source="DOID:120", source="MONDO:Redundant", source="MONDOLEX:0001416", source="NCIT:C4913"} ! reproductive system cancer
is_a: MONDO:0021148 {source="MONDO:Redundant", source="MONDOLEX:0001416", source="NCIT:C4913", source="OWLReasoner:2017"} ! female reproductive system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188207007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153585
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0699889
property_value: exactMatch DOID:120
property_value: exactMatch http://identifiers.org/snomedct/126907002
property_value: exactMatch NCIT:C4913

[Term]
id: MONDO:0001417
name: tracheal lymphoma
def: "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor." [NCIT:C6248]
synonym: "lymphoma of the trachea" EXACT [DOID:12001, NCIT:C6248]
synonym: "lymphoma of trachea" EXACT [DOID:12001, NCIT:C6248]
synonym: "primary tracheal lymphoma" EXACT [NCIT:C6248]
synonym: "trachea lymphoma" EXACT [MONDO:patterns/location]
synonym: "tracheal lymphoma" EXACT [NCIT:C6248]
xref: DOID:12001 {source="MONDO:equivalentTo"}
xref: NCIT:C6248 {source="MONDO:equivalentTo", source="DOID:12001", source="exact-label-match"}
xref: UMLS:C1336773 {source="MONDO:equivalentTo", source="NCIT:C6248", source="DOID:12001"}
is_a: MONDO:0001407 {source="DOID:12001", source="NCIT:C6248"} ! tracheal cancer
is_a: MONDO:0005062 {source="DOID:12001", source="MONDO:Redundant", source="NCIT:C6248/inferred"} ! lymphoma
property_value: exactMatch DOID:12001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336773
property_value: exactMatch NCIT:C6248

[Term]
id: MONDO:0001418
name: trachea sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the trachea." [NCIT:P378]
synonym: "sarcoma of the trachea" EXACT [DOID:12002, NCIT:C6050]
synonym: "sarcoma of trachea" EXACT [MONDO:patterns/sarcoma, NCIT:C6050]
synonym: "trachea sarcoma" EXACT [MONDO:patterns/location, NCIT:C6050]
synonym: "tracheal sarcoma" EXACT [NCIT:C6050]
xref: DOID:12002 {source="MONDO:equivalentTo"}
xref: NCIT:C6050 {source="MONDO:kboom-pr-0.98/0.91/1.73", source="MONDO:equivalentTo", source="DOID:12002"}
xref: UMLS:C1336774 {source="MONDO:equivalentTo", source="NCIT:C6050", source="DOID:12002"}
is_a: MONDO:0001407 {source="DOID:12002", source="MONDO:Redundant", source="NCIT:C6050"} ! tracheal cancer
is_a: MONDO:0018078 {source="NCIT:C6050"} ! soft tissue sarcoma
property_value: exactMatch DOID:12002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336774
property_value: exactMatch NCIT:C6050

[Term]
id: MONDO:0001419
name: trachea squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." [NCIT:P378]
synonym: "epidermoid carcinoma of the trachea" EXACT [NCIT:C4448]
synonym: "epidermoid carcinoma of trachea" EXACT [NCIT:C4448]
synonym: "squamous cell carcinoma of the trachea" EXACT [NCIT:C4448]
synonym: "squamous cell carcinoma of trachea" EXACT [DOID:12003, NCIT:C4448]
synonym: "trachea epidermoid carcinoma" EXACT [NCIT:C4448]
synonym: "trachea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4448]
synonym: "tracheal epidermoid carcinoma" EXACT [DOID:12003, NCIT:C4448]
synonym: "tracheal squamous cell carcinoma" EXACT [NCIT:C4448]
xref: DOID:12003 {source="MONDO:equivalentTo"}
xref: EFO:1000600 {source="MONDO:equivalentTo"}
xref: NCIT:C4448 {source="MONDO:equivalentTo", source="EFO:1000600", source="DOID:12003", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254620000 {source="MONDO:equivalentTo", source="DOID:12003", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345946 {source="MONDO:equivalentTo", source="DOID:12003", source="NCIT:C4448"}
is_a: MONDO:0003184 {source="DOID:12003", source="MONDO:Redundant", source="MONDOLEX:0001419", source="NCIT:C4448"} ! trachea carcinoma
is_a: MONDO:0005096 {source="DOID:12003", source="EFO:1000600", source="MONDO:Redundant", source="MONDOLEX:0001419", source="NCIT:C4448", source="linkedlifedata"} ! squamous cell carcinoma
property_value: exactMatch DOID:12003
property_value: exactMatch http://identifiers.org/snomedct/254620000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345946
property_value: exactMatch NCIT:C4448

[Term]
id: MONDO:0001420
name: trigeminal nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." [NCIT:C5122]
synonym: "cranial nerve V neoplasms" EXACT [NCIT:C5122]
synonym: "cranial nerve V tumors" EXACT [NCIT:C5122]
synonym: "fifth cranial nerve neoplasm" EXACT [NCIT:C5122]
synonym: "fifth cranial nerve tumor" EXACT [NCIT:C5122]
synonym: "neoplasm of fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of the fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of the trigeminal nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of trigeminal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "neoplasms, cranial nerve V" EXACT [NCIT:C5122]
synonym: "trigeminal nerve neoplasm" EXACT [NCIT:C5122]
synonym: "trigeminal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trigeminal nerve neoplasms" EXACT [NCIT:C5122]
synonym: "trigeminal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "trigeminal nerve tumors" EXACT [NCIT:C5122]
synonym: "tumor of fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "tumor of the fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "tumor of the trigeminal nerve" EXACT [NCIT:C5122]
synonym: "tumor of trigeminal nerve" EXACT [DOID:1201, MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "tumors, cranial nerve V" EXACT [NCIT:C5122]
xref: DOID:1201 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5122 {source="DOID:1201", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126971002 {source="DOID:1201", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263897 {source="DOID:1201", source="NCIT:C5122", source="MONDO:equivalentTo"}
is_a: MONDO:0002633 {source="DOID:1201", source="MONDO:Redundant", source="NCIT:C5122", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0003543 ! trigeminal nerve disease
property_value: exactMatch DOID:1201
property_value: exactMatch http://identifiers.org/snomedct/126971002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263897
property_value: exactMatch NCIT:C5122

[Term]
id: MONDO:0001421
name: frontal lobe neoplasm
def: "A neoplasm involving a frontal lobe." [MONDO:patterns/neoplasm]
synonym: "frontal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "frontal lobe tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "malignant neoplasm of frontal lobe" NARROW [DOID:12016]
synonym: "neoplasm of frontal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the frontal lobe" EXACT [NCIT:C5572]
synonym: "tumor of frontal lobe" EXACT [DOID:12016, MONDO:patterns/neoplasm, NCIT:C5572]
synonym: "tumor of the frontal lobe" EXACT [NCIT:C5572]
xref: DOID:12016 {source="MONDO:equivalentTo"}
xref: ICD10:C71.1 {source="DOID:12016"}
xref: ICD9:191.1 {source="DOID:12016"}
xref: NCIT:C5572 {source="MONDO:equivalentTo", source="DOID:12016", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:126954003 {source="MONDO:equivalentTo", source="DOID:12016", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263886 {source="NCIT:C5572", source="MONDO:equivalentTo", source="DOID:12016"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5572", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
property_value: closeMatch http://identifiers.org/snomedct/363467004
property_value: closeMatch http://identifiers.org/snomedct/93807001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153635
property_value: exactMatch DOID:12016
property_value: exactMatch http://identifiers.org/snomedct/126954003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263886
property_value: exactMatch NCIT:C5572

[Term]
id: MONDO:0001422
name: primary aldosteronism
def: "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." [NCIT:C34510]
comment: Editor note: DOID class refers to adenoma-caused Conn syndrome
synonym: "Conn syndrome" EXACT [DOID:12028, NCIT:C34510]
synonym: "Conn's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34510]
synonym: "primary aldosteronism" EXACT [DOID:12028, https://en.wikipedia.org/wiki/Primary_aldosteronism, ICD9CM_2006:255.10]
synonym: "primary hyperaldosteronism" EXACT [DOID:12028, NCIT:C34510]
xref: COHD:434000 {source="MONDO:equivalentTo"}
xref: DOID:12028 {source="MONDO:equivalentTo"}
xref: ICD10:E26.0 {source="DOID:12028", source="MONDO:equivalentTo"}
xref: ICD10:E26.01 {source="DOID:12028"}
xref: ICD9:255.12 {source="DOID:12028", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34510 {source="DOID:12028", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:190507007 {source="DOID:12028", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005495 ! adrenal gland disease
relationship: excluded_subClassOf MONDO:0003924 {source="DOID:12028"} ! adrenal cortex adenoma
property_value: closeMatch http://identifiers.org/snomedct/13536004
property_value: closeMatch http://identifiers.org/snomedct/154709005
property_value: closeMatch http://identifiers.org/snomedct/190506003
property_value: closeMatch http://identifiers.org/snomedct/258117004
property_value: closeMatch http://identifiers.org/snomedct/267484005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384514
property_value: exactMatch DOID:12028
property_value: exactMatch http://identifiers.org/snomedct/190507007
property_value: exactMatch NCIT:C34510

[Term]
id: MONDO:0001423
name: drug-induced mental disorder
xref: DOID:1203 {source="MONDO:equivalentTo"}
xref: ICD9:292.8 {source="DOID:1203"}
xref: ICD9:292.89 {source="DOID:1203"}
is_a: MONDO:0005084 ! mental disorder
is_a: MONDO:0029001 ! chemically-induced disorder
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:1203"} ! substance-induced psychosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154325
property_value: exactMatch DOID:1203

[Term]
id: MONDO:0001424
name: sarcoid meningitis
def: "Meningitis that arises from sarcoidosis." [https://en.wikipedia.org/wiki/Neurosarcoidosis]
comment: Editor note: consider obsoleting as represents a finding not a disease
synonym: "meningitis in sarcoidosis" EXACT [DOID:12055, ICD9CM_2006:321.4]
xref: COHD:440699 {source="MONDO:equivalentTo"}
xref: DOID:12055 {source="MONDO:equivalentTo"}
xref: ICD10:D86.81 {source="MONDO:equivalentTo", source="DOID:12055"}
xref: ICD9:321.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:12055"}
xref: SCTID:192673008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.81", source="DOID:12055"}
xref: UMLS:C0154648 {source="MONDO:equivalentTo", source="DOID:12055"}
is_a: MONDO:0024891 {source="linkedlifedata"} ! non-infectious meningitis
is_a: MONDO:0045047 {source="MONDO:Redundant", source="linkedlifedata"} ! neurosarcoidosis
relationship: excluded_subClassOf MONDO:0004796 {source="DOID:12055"} ! infectious meningitis
property_value: exactMatch DOID:12055
property_value: exactMatch http://identifiers.org/snomedct/192673008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154648

[Term]
id: MONDO:0001425
name: obsolete Rett syndrome
is_obsolete: true
replaced_by: MONDO:0010726

[Term]
id: MONDO:0001426
name: mediastinum neurofibroma
def: "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative." [NCIT:P378]
synonym: "mediastinal neurofibroma" EXACT [NCIT:C6631]
synonym: "mediastinum neurofibroma" EXACT [MONDO:patterns/location]
synonym: "neurofibroma of mediastinum" EXACT [DOID:12064, NCIT:C6631]
synonym: "neurofibroma of the mediastinum" EXACT [NCIT:C6631]
xref: DOID:12064 {source="MONDO:equivalentTo"}
xref: NCIT:C6631 {source="MONDO:equivalentTo", source="DOID:12064", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334674 {source="MONDO:equivalentTo", source="NCIT:C6631", source="DOID:12064"}
is_a: MONDO:0003098 {source="DOID:12064", source="NCIT:C6631"} ! mediastinal neural neoplasm
is_a: MONDO:0016755 {source="DOID:12064", source="MONDO:Redundant", source="NCIT:C6631"} ! neurofibroma
property_value: exactMatch DOID:12064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334674
property_value: exactMatch NCIT:C6631

[Term]
id: MONDO:0001427
name: Dieulafoy lesion
def: "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine . Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding . The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." [https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion]
subset: gard_rare {source="GARD:0010930"}
synonym: "Dieulafoy disease" RELATED [GARD:0010930]
synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [DOID:12070]
synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [DOID:12070]
synonym: "Dieulafoy's lesion" RELATED [GARD:0010930]
synonym: "Exulceratio simplex Dieulafoy" RELATED [GARD:0010930]
xref: DOID:12070 {source="MONDO:equivalentTo"}
xref: GARD:0010930 {source="MONDO:equivalentTo"}
xref: ICD10:K31.82 {source="DOID:12070", source="MONDO:equivalentTo"}
xref: ICD9:537.84 {source="DOID:12070", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:109558001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.72"}
xref: UMLS:C0341217 {source="MONDO:equivalentTo"}
is_a: MONDO:0004298 {source="DOID:12070"} ! stomach disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1135229
property_value: exactMatch DOID:12070
property_value: exactMatch http://identifiers.org/snomedct/109558001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341217
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion xsd:anyURI {source="GARD:0010930"}

[Term]
id: MONDO:0001428
name: pylorospasm
xref: COHD:194071 {source="MONDO:equivalentTo"}
xref: DOID:12072 {source="MONDO:equivalentTo"}
xref: ICD9:537.81 {source="DOID:12072", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:335002 {source="DOID:12072", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0152163 {source="DOID:12072", source="MONDO:equivalentTo"}
is_a: MONDO:0004298 {source="DOID:12072", source="linkedlifedata"} ! stomach disease
property_value: exactMatch DOID:12072
property_value: exactMatch http://identifiers.org/snomedct/335002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152163

[Term]
id: MONDO:0001429
name: transient arthropathy
def: "Arthropathy that is not permanent." [NCIT:C35761]
synonym: "transient arthropathy involving forearm" NARROW [DOID:12084]
synonym: "transient arthropathy involving hand" NARROW [DOID:12084]
synonym: "transient arthropathy involving lower leg" NARROW [DOID:12084]
synonym: "transient arthropathy involving multiple sites" NARROW [DOID:12084]
synonym: "transient arthropathy involving pelvic region and thigh" NARROW [DOID:12084]
synonym: "transient arthropathy involving shoulder region" NARROW [DOID:12084]
synonym: "transient arthropathy involving upper arm" NARROW [DOID:12084]
xref: COHD:81930 {source="MONDO:equivalentTo"}
xref: DOID:12084 {source="MONDO:equivalentTo"}
xref: ICD9:716.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:716.41 {source="DOID:12084"}
xref: ICD9:716.48 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35761 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:66191007 {source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:12084/inferred", source="MONDO:Redundant", source="NCIT:C35761", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158007
property_value: exactMatch DOID:12084
property_value: exactMatch http://identifiers.org/snomedct/66191007
property_value: exactMatch NCIT:C35761

[Term]
id: MONDO:0001430
name: deep corneal vascularisation
synonym: "deep vascularization of cornea" EXACT [DOID:12087, ICD9CM_2006:370.63]
xref: DOID:12087 {source="MONDO:equivalentTo"}
xref: ICD10:H16.44 {source="DOID:12087"}
xref: ICD9:370.63 {source="MONDO:equivalentTo", source="DOID:12087", source="i2s"}
xref: SCTID:2102007 {source="MONDO:equivalentTo", source="DOID:12087", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155095 {source="MONDO:equivalentTo", source="DOID:12087"}
is_a: MONDO:0006713 {source="DOID:12087", source="linkedlifedata"} ! corneal neovascularization
property_value: exactMatch DOID:12087
property_value: exactMatch http://identifiers.org/snomedct/2102007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155095

[Term]
id: MONDO:0001431
name: toxic or nutritional optic neuropathy
def: "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." [https://en.wikipedia.org/wiki/Toxic_and_nutritional_optic_neuropathy, MONDO:cjm]
synonym: "nutritional optic neuropathy" EXACT [DOID:1209]
synonym: "nutritional optic neuropathy" RELATED [DOID:1209]
xref: DOID:1209 {source="MONDO:equivalentTo"}
xref: ICD10:H46.2 {source="MONDO:equivalentTo", source="DOID:1209"}
xref: ICD9:377.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:1209"}
xref: SCTID:82108004 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo", source="DOID:1209"}
xref: UMLS:C0155302 {source="MONDO:equivalentTo", source="DOID:1209"}
is_a: MONDO:0005885 {source="DOID:1209", source="ICD10:H46.2"} ! optic neuritis
property_value: exactMatch DOID:1209
property_value: exactMatch http://identifiers.org/snomedct/82108004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155302

[Term]
id: MONDO:0001432
name: obsolete sodoku disease
is_obsolete: true
replaced_by: MONDO:0020532

[Term]
id: MONDO:0001433
name: vaginal disease
def: "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." [NCIT:P378]
synonym: "disease of vagina" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vagina" EXACT []
synonym: "disorder of vagina" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vagina" RELATED [MONDO:patterns/location_top]
synonym: "vagina disease" EXACT [MONDO:patterns/location]
synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal disease" EXACT [NCIT:C26910]
synonym: "vaginal disorder" EXACT [NCIT:C26910]
xref: DOID:121 {source="MONDO:equivalentTo"}
xref: MESH:D014623 {source="MONDO:equivalentTo", source="DOID:121", source="MONDO:ontobio"}
xref: NCIT:C26910 {source="MONDO:equivalentTo", source="DOID:121", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:25658005 {source="MONDO:equivalentTo", source="DOID:121"}
xref: UMLS:C0042251 {source="MONDO:equivalentTo", source="DOID:121", source="NCIT:C26910"}
is_a: MONDO:0002263 {source="DOID:121", source="MESH:D014623", source="MONDO:Redundant", source="NCIT:C26910", source="linkedlifedata"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/156015000
property_value: closeMatch http://identifiers.org/snomedct/156018003
property_value: closeMatch http://identifiers.org/snomedct/266665005
property_value: closeMatch http://identifiers.org/snomedct/286989007
property_value: exactMatch DOID:121
property_value: exactMatch http://identifiers.org/mesh/D014623
property_value: exactMatch http://identifiers.org/snomedct/25658005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042251
property_value: exactMatch NCIT:C26910

[Term]
id: MONDO:0001434
name: inflammatory spondylopathy
synonym: "inflammatory spondylopathies in disease classified elsewhere" NARROW [DOID:12105, ICD9CM_2006:720.81]
synonym: "inflammatory spondylopathies in disease EC" EXACT [DOID:12105]
synonym: "inflammatory spondylopathy in disease classified elsewhere" NARROW [DOID:12105]
xref: COHD:133295 {source="MONDO:equivalentTo"}
xref: DOID:12105 {source="MONDO:equivalentTo"}
xref: ICD9:720.81 {source="DOID:12105"}
xref: ICD9:720.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:720.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:202649003 {source="MONDO:kboom-pr-1.00/0.84/14.96", source="MONDO:equivalentTo"}
is_a: MONDO:0003937 {source="DOID:12105"} ! spondylitis
property_value: closeMatch http://identifiers.org/snomedct/202652006
property_value: closeMatch http://identifiers.org/snomedct/6963001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021396
property_value: exactMatch DOID:12105
property_value: exactMatch http://identifiers.org/snomedct/202649003

[Term]
id: MONDO:0001435
name: bullous retinoschisis
xref: COHD:381288 {source="MONDO:equivalentTo"}
xref: DOID:12108 {source="MONDO:equivalentTo"}
xref: ICD9:361.12 {source="DOID:12108", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:65545003 {source="DOID:12108", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0344289 {source="DOID:12108", source="MONDO:equivalentTo"}
is_a: MONDO:0004579 {source="DOID:12108", source="linkedlifedata"} ! retinoschisis
property_value: exactMatch DOID:12108
property_value: exactMatch http://identifiers.org/snomedct/65545003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344289

[Term]
id: MONDO:0001436
name: hemosiderosis
def: "Accumulation of iron in internal organs." [NCIT:C82892]
subset: gard_rare {source="GARD:0006595"}
synonym: "haemosiderosis" EXACT [DOID:12119]
xref: DOID:12119 {source="MONDO:equivalentTo"}
xref: GARD:0006595 {source="MONDO:equivalentTo"}
xref: MESH:D006486 {source="DOID:12119", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C82892 {source="DOID:12119", source="MONDO:equivalentTo", source="NCIT:C82892"}
xref: SCTID:39011001 {source="DOID:12119", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0019114 {source="DOID:12119", source="MONDO:equivalentTo", source="NCIT:C82892"}
is_a: MONDO:0002279 {source="DOID:12119", source="MESH:D006486/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! iron metabolism disease
property_value: closeMatch http://identifiers.org/mesh/D019190
property_value: closeMatch http://identifiers.org/snomedct/190849009
property_value: exactMatch DOID:12119
property_value: exactMatch http://identifiers.org/mesh/D006486
property_value: exactMatch http://identifiers.org/snomedct/39011001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019114
property_value: exactMatch NCIT:C82892
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis xsd:anyURI {source="GARD:0006595"}

[Term]
id: MONDO:0001437
name: pulmonary alveolar proteinosis
def: "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." [NCIT:C85037]
synonym: "PAP" BROAD [MONDO:cjm]
synonym: "pulmonary alveolar proteinosis" EXACT [NCIT:C85037]
xref: COHD:435853 {source="MONDO:equivalentTo"}
xref: DOID:12120 {source="MONDO:equivalentTo"}
xref: ICD10:J84.01 {source="DOID:12120"}
xref: ICD9:516.0 {source="MONDO:equivalentTo", source="DOID:12120", source="i2s"}
xref: MESH:D011649 {source="MONDO:equivalentTo", source="DOID:12120", source="MONDO:ontobio"}
xref: NCIT:C85037 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:12120"}
xref: Reactome:R-HSA-5683826
xref: SCTID:10501004 {source="MONDO:equivalentTo", source="DOID:12120", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034050 {source="MONDO:equivalentTo", source="DOID:12120", source="NCIT:C85037"}
is_a: MONDO:0005275 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="NCIT:C85037/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: exactMatch DOID:12120
property_value: exactMatch http://identifiers.org/mesh/D011649
property_value: exactMatch http://identifiers.org/snomedct/10501004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034050
property_value: exactMatch NCIT:C85037

[Term]
id: MONDO:0001438
name: postinflammatory pulmonary fibrosis
synonym: "post-inflammatory pulmonary fibrosis" EXACT [DOID:12123]
synonym: "postinflammatory pulmonary fibrosis" EXACT [DOID:12123]
xref: COHD:253797 {source="MONDO:equivalentTo"}
xref: DOID:12123 {source="MONDO:equivalentTo"}
xref: ICD10:J84.10 {source="DOID:12123"}
xref: ICD9:515 {source="MONDO:equivalentTo", source="i2s", source="DOID:12123"}
xref: SCTID:266368002 {source="MONDO:equivalentTo", source="DOID:12123", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175999 {source="MONDO:equivalentTo", source="DOID:12123"}
is_a: MONDO:0002771 {source="DOID:12123", source="MONDO:Redundant", source="linkedlifedata"} ! pulmonary fibrosis
intersection_of: MONDO:0002771 ! pulmonary fibrosis
intersection_of: disease_arises_from_feature MONDO:0021166 ! inflammatory disease
relationship: disease_arises_from_feature MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/196121006
property_value: closeMatch http://identifiers.org/snomedct/57124002
property_value: exactMatch DOID:12123
property_value: exactMatch http://identifiers.org/snomedct/266368002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175999

[Term]
id: MONDO:0001439
name: episcleritis periodica fugax
xref: COHD:441032 {source="MONDO:equivalentTo"}
xref: DOID:12124 {source="MONDO:equivalentTo"}
xref: ICD10:H15.11 {source="DOID:12124"}
xref: ICD9:379.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:12124"}
xref: SCTID:31166000 {source="MONDO:equivalentTo", source="DOID:12124", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155351 {source="MONDO:equivalentTo", source="DOID:12124"}
is_a: MONDO:0001269 {source="DOID:12124", source="linkedlifedata/inferred"} ! scleral disease
property_value: closeMatch http://identifiers.org/snomedct/194141004
property_value: exactMatch DOID:12124
property_value: exactMatch http://identifiers.org/snomedct/31166000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155351

[Term]
id: MONDO:0001440
name: neurotrophic keratoconjunctivitis
xref: COHD:381291 {source="MONDO:equivalentTo"}
xref: DOID:12125 {source="MONDO:equivalentTo"}
xref: ICD10:H16.23 {source="DOID:12125"}
xref: ICD9:370.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:12125"}
xref: SCTID:77080005 {source="MONDO:equivalentTo", source="DOID:12125", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155084 {source="MONDO:equivalentTo", source="DOID:12125"}
is_a: MONDO:0004768 {source="DOID:12125", source="MONDOLEX:0001440", source="linkedlifedata"} ! keratoconjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193777005
property_value: exactMatch DOID:12125
property_value: exactMatch http://identifiers.org/snomedct/77080005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155084

[Term]
id: MONDO:0001441
name: pica disease
def: "An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development." [NCIT:P378]
synonym: "Pica" EXACT [NCIT:C92566]
synonym: "Pica eating disorder" EXACT [NCIT:C92566]
xref: DOID:12128 {source="MONDO:equivalentTo"}
xref: ICD9:307.52 {source="DOID:12128"}
xref: MESH:D010842 {source="DOID:12128", source="MONDO:equivalentTo"}
xref: NCIT:C92566 {source="DOID:12128", source="MONDO:equivalentTo"}
xref: SCTID:14077003 {source="DOID:12128", source="MONDO:equivalentTo"}
is_a: MONDO:0005451 {source="DOID:12128", source="linkedlifedata"} ! eating disorder
property_value: closeMatch http://identifiers.org/snomedct/154938001
property_value: closeMatch http://identifiers.org/snomedct/268779001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031873
property_value: exactMatch DOID:12128
property_value: exactMatch http://identifiers.org/mesh/D010842
property_value: exactMatch http://identifiers.org/snomedct/14077003
property_value: exactMatch NCIT:C92566

[Term]
id: MONDO:0001442
name: dysthymic disorder
def: "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." [NCIT:P378]
synonym: "dysthymia" EXACT [CSP2005:2483-6681, DOID:12139]
xref: COHD:433440 {source="MONDO:equivalentTo"}
xref: DOID:12139 {source="MONDO:equivalentTo"}
xref: EFO:0008623 {source="MONDO:equivalentTo"}
xref: ICD10:F34.1 {source="DOID:12139", source="MONDO:equivalentTo"}
xref: ICD9:300.4 {source="DOID:12139", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019263 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34562 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:78667006 {source="DOID:12139", source="MONDO:kboom-pr-0.88/0.76/0.14", source="MONDO:equivalentTo"}
is_a: MONDO:0005371 {source="DOID:12139", source="EFO:0008623", source="ICD10:F34.1/inferred", source="MESH:D019263/inferred", source="NCIT:C34562", source="linkedlifedata", source="linkedlifedata/inferred"} ! mood disorder
property_value: closeMatch http://identifiers.org/snomedct/192384008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013415
property_value: exactMatch DOID:12139
property_value: exactMatch http://identifiers.org/mesh/D019263
property_value: exactMatch http://identifiers.org/snomedct/78667006
property_value: exactMatch NCIT:C34562

[Term]
id: MONDO:0001443
name: tympanosclerosis
def: "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." [MESH:D063371]
xref: COHD:378765 {source="MONDO:equivalentTo"}
xref: DOID:1214 {source="MONDO:equivalentTo"}
xref: ICD10:H74.0 {source="MONDO:equivalentTo"}
xref: ICD9:385.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:385.09 {source="MONDO:relatedTo", source="DOID:1214", source="i2s"}
xref: MESH:D063371 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:23606001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0003648 {source="DOID:1214", source="linkedlifedata"} ! tympanic membrane disease
property_value: closeMatch http://identifiers.org/snomedct/111540000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155477
property_value: exactMatch DOID:1214
property_value: exactMatch http://identifiers.org/mesh/D063371
property_value: exactMatch http://identifiers.org/snomedct/23606001

[Term]
id: MONDO:0001444
name: Chagas disease
def: "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." [NCIT:C84629]
subset: ordo_disease {source="Orphanet:3386"}
synonym: "American trypanosomiasis" RELATED [DOID:12140]
synonym: "Chagas disease" EXACT [Orphanet:3386]
synonym: "Chagas' disease" EXACT [DOID:12140]
synonym: "Chagas' disease with digestive system involvement" EXACT [DOID:12140]
synonym: "Chagas' disease with nervous system involvement" EXACT [DOID:12140]
synonym: "Chagas' disease with other organ involvement" EXACT [DOID:12140]
synonym: "Chagas-mazza disease" RELATED []
synonym: "infection by trypanosoma cruzi" EXACT []
synonym: "infection caused by trypanosoma cruzi" RELATED []
synonym: "south American trypanosomiasis" RELATED []
synonym: "Trypanosoma cruzi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trypanosoma cruzi disease or disorder" EXACT []
synonym: "Trypanosoma cruzi infectious disease" EXACT []
xref: DOID:12140 {source="MONDO:equivalentTo"}
xref: EFO:0008559 {source="MONDO:equivalentTo"}
xref: ICD10:B57 {source="MONDO:equivalentTo"}
xref: ICD10:B57.0 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD10:B57.1 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD10:B57.2 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD10:B57.3 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD10:B57.4 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD10:B57.5 {source="Orphanet:3386", source="ORDO:3386/btnt"}
xref: ICD9:086.2 {source="DOID:12140"}
xref: KEGG:05142 {source="DOID:12140", source="MONDO:equivalentTo"}
xref: MedDRA:10001935 {source="Orphanet:3386", source="ORDO:3386/e"}
xref: MESH:D014355 {source="MONDO:equivalentTo"}
xref: NCIT:C84629 {source="MONDO:kboom-pr-0.92/0.82/0.18", source="MONDO:equivalentTo"}
xref: Orphanet:3386 {source="MONDO:equivalentTo"}
xref: SCTID:77506005 {source="MONDO:equivalentTo"}
xref: UMLS:C0041234 {source="Orphanet:3386", source="MONDO:equivalentTo", source="NCIT:C84629", source="ORDO:3386/e"}
xref: UMLS:C0153125 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0348781 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0348782 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000940 {source="DOID:12140", source="EFO:0008559", source="MESH:D014355", source="MONDO:Redundant", source="linkedlifedata"} ! trypanosomiasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186817003
property_value: closeMatch http://identifiers.org/snomedct/54570006
property_value: closeMatch http://identifiers.org/snomedct/94371000119107
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007932
property_value: exactMatch DOID:12140
property_value: exactMatch http://identifiers.org/meddra/10001935
property_value: exactMatch http://identifiers.org/mesh/D014355
property_value: exactMatch http://identifiers.org/snomedct/77506005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348782
property_value: exactMatch NCIT:C84629
property_value: exactMatch Orphanet:3386

[Term]
id: MONDO:0001445
name: obsolete neurogenic bladder (disease)
def: "Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." [NCIT:P378]
synonym: "neurogenic bladder" EXACT [MONDO:ambiguous]
synonym: "neurogenic dysfunction of the urinary bladder" EXACT [DOID:12143]
synonym: "neurogenic urinary bladder disorder" EXACT [CSP2005:3045-9211, DOID:12143]
synonym: "neuropathic bladder" EXACT [DOID:12143]
xref: DOID:12143 {source="MONDO:equivalentTo"}
xref: HP:0000011 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:596.54 {source="DOID:12143"}
xref: MESH:D001750 {source="MONDO:equivalentTo", source="DOID:12143", source="MONDO:ontobio"}
xref: SCTID:398064005 {source="MONDO:equivalentTo", source="DOID:12143"}
xref: UMLS:C0005697 {source="MONDO:equivalentTo", source="DOID:12143"}
property_value: closeMatch http://identifiers.org/snomedct/155032006
property_value: closeMatch http://identifiers.org/snomedct/192972000
property_value: closeMatch http://identifiers.org/snomedct/197883004
property_value: closeMatch http://identifiers.org/snomedct/23201000
property_value: closeMatch http://identifiers.org/snomedct/397732007
property_value: exactMatch DOID:12143
property_value: exactMatch http://identifiers.org/mesh/D001750
property_value: exactMatch http://identifiers.org/snomedct/398064005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005697
property_value: exactMatch NCIT:C79696
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/974 xsd:string
is_obsolete: true
consider: HP:0000011

[Term]
id: MONDO:0001446
name: low compliance bladder
synonym: "hyperactivity of bladder" EXACT [DOID:12144, MTHICD9_2006:596.51]
synonym: "hypertonic bladder" EXACT [DOID:12144]
synonym: "hypertonicity of bladder" EXACT [DOID:12144, ICD9CM_2006:596.51]
synonym: "low bladder compliance" EXACT [DOID:12144, ICD9CM_2006:596.52]
xref: COHD:76153 {source="MONDO:equivalentTo"}
xref: DOID:12144 {source="MONDO:equivalentTo"}
xref: ICD9:596.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:12144"}
xref: SCTID:9009001 {source="MONDO:equivalentTo", source="DOID:12144", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0489967 {source="MONDO:equivalentTo", source="DOID:12144"}
is_a: MONDO:0006026 {source="DOID:12144", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease
property_value: exactMatch DOID:12144
property_value: exactMatch http://identifiers.org/snomedct/9009001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0489967

[Term]
id: MONDO:0001447
name: detrusor sphincter dyssynergia (disease)
synonym: "detrusor sphincter dyssynergia" EXACT [MONDO:ambiguous]
xref: DOID:12145 {source="MONDO:equivalentTo"}
xref: HP:0025488 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:596.55 {source="DOID:12145"}
xref: SCTID:236655005 {source="MONDO:equivalentTo", source="DOID:12145"}
xref: UMLS:C0341747 {source="MONDO:equivalentTo", source="DOID:12145"}
is_a: MONDO:0006026 {source="DOID:12145", source="linkedlifedata/inferred"} ! urinary bladder disease
property_value: exactMatch DOID:12145
property_value: exactMatch http://identifiers.org/snomedct/236655005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341747

[Term]
id: MONDO:0001448
name: obsolete alveolar echinococcosis
is_obsolete: true
replaced_by: MONDO:0017282

[Term]
id: MONDO:0001449
name: lymphocytic choriomeningitis
def: "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" [MESH:D008216]
synonym: "LCM" EXACT [CSP2005:2042-5332, DOID:12155]
synonym: "lymphocytic choriomeningitis mammarenavirus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "lymphocytic choriomeningitis mammarenavirus infectious meningitis" EXACT []
synonym: "lymphocytic choriomeningitis virus encephalomyelitis" EXACT [DOID:12155]
synonym: "lymphocytic meningitis" EXACT [DOID:12155]
synonym: "lymphocytic meningoencephalitis" EXACT [DOID:12155]
xref: COHD:434860 {source="MONDO:equivalentTo"}
xref: DOID:12155 {source="MONDO:equivalentTo"}
xref: ICD10:A87.2 {source="MONDO:equivalentTo", source="DOID:12155"}
xref: ICD9:049.0 {source="DOID:12155"}
xref: MESH:D008216 {source="MONDO:equivalentTo", source="DOID:12155", source="MONDO:ontobio"}
xref: UMLS:C0024266 {source="MONDO:equivalentTo", source="DOID:12155"}
is_a: MONDO:0004796 ! infectious meningitis
is_a: MONDO:0005650 ! Arenaviridae infectious disease
is_a: MONDO:0024318 ! viral infection of central nervous system
is_a: MONDO:0100120 ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/186495001
property_value: closeMatch http://identifiers.org/snomedct/192668002
property_value: closeMatch http://identifiers.org/snomedct/276064006
property_value: closeMatch http://identifiers.org/snomedct/276817007
property_value: closeMatch http://identifiers.org/snomedct/38666007
property_value: closeMatch http://identifiers.org/snomedct/397961002
property_value: closeMatch http://identifiers.org/snomedct/398136003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153014
property_value: exactMatch DOID:12155
property_value: exactMatch http://identifiers.org/mesh/D008216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024266

[Term]
id: MONDO:0001450
name: obsolete arachnoiditis
is_obsolete: true
replaced_by: MONDO:0015304

[Term]
id: MONDO:0001451
name: peripheral retinal degeneration
def: "Degeneration of the peripheral retina." [NCIT:C34919]
synonym: "peripheral degeneration of retina" EXACT [DOID:12161]
synonym: "peripheral retinal Degeneration" EXACT [NCIT:C34919]
xref: COHD:437267 {source="MONDO:equivalentTo"}
xref: DOID:12161 {source="MONDO:equivalentTo"}
xref: ICD10:H35.4 {source="MONDO:equivalentTo", source="DOID:12161"}
xref: ICD10:H35.40 {source="DOID:12161"}
xref: ICD9:362.6 {source="DOID:12161"}
xref: ICD9:362.60 {source="DOID:12161"}
xref: NCIT:C34919 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:12161"}
xref: SCTID:405721006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12161"}
xref: UMLS:C1320640 {source="MONDO:equivalentTo", source="DOID:12161", source="NCIT:C34919"}
is_a: MONDO:0004580 {source="DOID:12161", source="NCIT:C34919"} ! retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193393004
property_value: closeMatch http://identifiers.org/snomedct/193394005
property_value: closeMatch http://identifiers.org/snomedct/193398008
property_value: closeMatch http://identifiers.org/snomedct/61536007
property_value: closeMatch http://identifiers.org/snomedct/95704002
property_value: exactMatch DOID:12161
property_value: exactMatch http://identifiers.org/snomedct/405721006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1320640
property_value: exactMatch NCIT:C34919

[Term]
id: MONDO:0001452
name: pseudoretinitis pigmentosa
synonym: "secondary pigmentary degeneration of retina" EXACT [DOID:12162, ICD9CM_2006:362.65]
synonym: "secondary pigmentary retinal degeneration" EXACT [DOID:12162]
xref: DOID:12162 {source="MONDO:equivalentTo"}
xref: ICD10:H35.45 {source="DOID:12162"}
xref: ICD9:362.65 {source="DOID:12162"}
xref: SCTID:193396007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0154858 {source="DOID:12162", source="MONDO:equivalentTo"}
xref: UMLS:C2053820 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001451 {source="DOID:12162"} ! peripheral retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/35545005
property_value: exactMatch DOID:12162
property_value: exactMatch http://identifiers.org/snomedct/193396007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2053820

[Term]
id: MONDO:0001453
name: senile reticular retinal degeneration
synonym: "Senile reticular degeneration of retina" EXACT [DOID:12163, ICD9CM_2006:362.64]
xref: DOID:12163 {source="MONDO:equivalentTo"}
xref: ICD9:362.64 {source="MONDO:equivalentTo", source="i2s", source="DOID:12163"}
xref: SCTID:54184008 {source="MONDO:equivalentTo", source="DOID:12163", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154857 {source="MONDO:equivalentTo", source="DOID:12163"}
is_a: MONDO:0001451 {source="DOID:12163"} ! peripheral retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193395006
property_value: exactMatch DOID:12163
property_value: exactMatch http://identifiers.org/snomedct/54184008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154857

[Term]
id: MONDO:0001454
name: Blessig's cysts
synonym: "Blessig cysts" EXACT [DOID:12164]
synonym: "Iwanoff's cysts" EXACT [DOID:12164, MTHICD9_2006:362.62]
synonym: "Microcystoid degeneration of retina" EXACT [DOID:12164, ICD9CM_2006:362.62]
synonym: "Microcystoid retinal degeneration" EXACT [DOID:12164]
xref: DOID:12164 {source="MONDO:equivalentTo"}
xref: ICD10:H35.42 {source="DOID:12164"}
xref: ICD9:362.62 {source="MONDO:equivalentTo", source="DOID:12164", source="i2s"}
xref: SCTID:37075008 {source="MONDO:equivalentTo", source="DOID:12164", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154855 {source="MONDO:equivalentTo", source="DOID:12164"}
is_a: MONDO:0001451 {source="DOID:12164"} ! peripheral retinal degeneration
property_value: exactMatch DOID:12164
property_value: exactMatch http://identifiers.org/snomedct/37075008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154855

[Term]
id: MONDO:0001455
name: retinal lattice degeneration
synonym: "palisade degeneration of retina" EXACT [DOID:12165, ICD9CM_2006:362.63]
xref: COHD:319016 {source="MONDO:equivalentTo"}
xref: DOID:12165 {source="MONDO:equivalentTo"}
xref: ICD10:H35.41 {source="DOID:12165"}
xref: ICD9:362.63 {source="MONDO:equivalentTo", source="i2s", source="DOID:12165"}
xref: SCTID:3577000 {source="MONDO:equivalentTo", source="DOID:12165", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154856 {source="MONDO:equivalentTo", source="DOID:12165"}
is_a: MONDO:0001451 {source="DOID:12165"} ! peripheral retinal degeneration
property_value: exactMatch DOID:12165
property_value: exactMatch http://identifiers.org/snomedct/3577000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154856

[Term]
id: MONDO:0001456
name: cobblestone retinal degeneration
synonym: "paving stone degeneration of retina" EXACT [DOID:12166, ICD9CM_2006:362.61]
synonym: "paving stone retinal degeneration" EXACT [DOID:12166]
xref: COHD:438748 {source="MONDO:equivalentTo"}
xref: DOID:12166 {source="MONDO:equivalentTo"}
xref: ICD10:H35.43 {source="DOID:12166"}
xref: ICD9:362.61 {source="MONDO:equivalentTo", source="i2s", source="DOID:12166"}
xref: SCTID:69134001 {source="MONDO:equivalentTo", source="DOID:12166", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154854 {source="MONDO:equivalentTo", source="DOID:12166"}
is_a: MONDO:0001451 {source="DOID:12166"} ! peripheral retinal degeneration
property_value: exactMatch DOID:12166
property_value: exactMatch http://identifiers.org/snomedct/69134001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154854

[Term]
id: MONDO:0001457
name: secondary vitreoretinal degeneration
xref: DOID:12167 {source="MONDO:equivalentTo"}
xref: ICD10:H35.46 {source="DOID:12167"}
xref: ICD9:362.66 {source="MONDO:equivalentTo", source="i2s", source="DOID:12167"}
xref: SCTID:60676002 {source="MONDO:equivalentTo", source="DOID:12167", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154859 {source="MONDO:equivalentTo", source="DOID:12167"}
is_a: MONDO:0001451 {source="DOID:12167"} ! peripheral retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193397003
property_value: exactMatch DOID:12167
property_value: exactMatch http://identifiers.org/snomedct/60676002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154859

[Term]
id: MONDO:0001458
name: ulnar nerve lesion
def: "A peripheral nerve lesion that involves the ulnar nerve." [MONDO:patterns/location]
comment: Editor note: todo DP for lesions
synonym: "lesion of ulnar nerve" EXACT [DOID:12168, ICD9CM_2006:354.2]
synonym: "peripheral nerve lesion of ulnar nerve" EXACT [MONDO:design_pattern]
synonym: "ulnar nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:374027 {source="MONDO:equivalentTo"}
xref: DOID:12168 {source="MONDO:equivalentTo"}
xref: ICD10:G56.2 {source="DOID:12168"}
xref: ICD10:G56.20 {source="DOID:12168"}
xref: ICD9:354.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:12168"}
xref: SCTID:367475009 {source="MONDO:equivalentTo", source="DOID:12168", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1288279 {source="MONDO:equivalentTo", source="DOID:12168"}
is_a: MONDO:0007006 {source="MONDO:cjm", source="linkedlifedata"} ! ulnar neuropathy
is_a: MONDO:0024334 ! peripheral nerve lesion
relationship: excluded_subClassOf MONDO:0003607 {source="DOID:12168"} ! neuritis of upper limb
property_value: closeMatch http://identifiers.org/snomedct/193132000
property_value: closeMatch http://identifiers.org/snomedct/193136002
property_value: closeMatch http://identifiers.org/snomedct/267599007
property_value: closeMatch http://identifiers.org/snomedct/298121002
property_value: closeMatch http://identifiers.org/snomedct/359834003
property_value: closeMatch http://identifiers.org/snomedct/55802003
property_value: exactMatch DOID:12168
property_value: exactMatch http://identifiers.org/snomedct/367475009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1288279

[Term]
id: MONDO:0001459
name: radial neuropathy
def: "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." [MESH:D020425]
synonym: "peripheral neuropathy of radial nerve" EXACT [MONDO:design_pattern]
synonym: "radial nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12171 {source="MONDO:equivalentTo"}
xref: MESH:D020425 {source="DOID:12171", source="MONDO:equivalentTo"}
xref: SCTID:16644004 {source="DOID:12171", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0748226 {source="DOID:12171", source="MONDO:equivalentTo"}
is_a: MONDO:0001397 {source="DOID:12171", source="MESH:D020425"} ! mononeuropathy
is_a: MONDO:0006683 ! brachial plexus neuropathy
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch DOID:12171
property_value: exactMatch http://identifiers.org/mesh/D020425
property_value: exactMatch http://identifiers.org/snomedct/16644004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748226

[Term]
id: MONDO:0001460
name: dyshormonogenic goiter
xref: COHD:136933 {source="MONDO:equivalentTo"}
xref: DOID:12175 {source="MONDO:equivalentTo"}
xref: ICD10:E07.1 {source="DOID:12175"}
xref: ICD9:246.1 {source="MONDO:equivalentTo", source="DOID:12175", source="i2s"}
xref: SCTID:190304001 {source="MONDO:equivalentTo", source="DOID:12175", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152077 {source="MONDO:equivalentTo", source="DOID:12175"}
is_a: MONDO:0005397 {source="DOID:12175", source="linkedlifedata"} ! goiter (disease)
property_value: exactMatch DOID:12175
property_value: exactMatch http://identifiers.org/snomedct/190304001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152077

[Term]
id: MONDO:0001461
name: tinea corporis
def: "a dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." [https://doi.org/10.1016/B978-0-323-29634-2.00017-1]
synonym: "dermatophytosis of the body" EXACT [DOID:12179]
synonym: "dermatophytosis of the trunk" EXACT [DOID:12179]
xref: COHD:4224968 {source="MONDO:equivalentTo"}
xref: DOID:12179 {source="MONDO:equivalentTo"}
xref: ICD10:B35.4 {source="MONDO:equivalentTo"}
xref: ICD9:110.5 {source="DOID:12179"}
xref: SCTID:84849002 {source="MONDO:equivalentTo", source="DOID:12179", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0040252 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0546826 {source="MONDO:equivalentTo", source="DOID:12179"}
is_a: MONDO:0004678 {source="DOID:12179", source="ICD10:B35.4", source="https://doi.org/10.1016/B978-0-323-29634-2.00017-1", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis
property_value: closeMatch http://identifiers.org/snomedct/186994008
property_value: closeMatch http://identifiers.org/snomedct/266151007
property_value: exactMatch DOID:12179
property_value: exactMatch http://identifiers.org/snomedct/84849002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546826

[Term]
id: MONDO:0001462
name: descending colon cancer
def: "A malignant neoplasm involving the descending colon." [MONDO:DesignPattern]
synonym: "Ca descending colon" EXACT [DOID:12190]
synonym: "cancer of descending colon" EXACT [MONDO:patterns/cancer]
synonym: "descending colon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant descending colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of descending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of left colon" EXACT [DOID:12190, MTHICD9_2006:153.2]
synonym: "malignant tumor of descending colon" EXACT [DOID:12190]
xref: DOID:12190 {source="MONDO:equivalentTo"}
xref: ICD10:C18.6 {source="DOID:12190"}
xref: ICD9:153.2 {source="DOID:12190", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363409003 {source="DOID:12190", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153435 {source="DOID:12190", source="MONDO:equivalentTo"}
is_a: MONDO:0021063 {source="DOID:12190", source="MONDO:Redundant", source="MONDOLEX:0001462", source="linkedlifedata"} ! malignant colon neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154457003
property_value: closeMatch http://identifiers.org/snomedct/269536008
property_value: closeMatch http://identifiers.org/snomedct/93771007
property_value: exactMatch DOID:12190
property_value: exactMatch http://identifiers.org/snomedct/363409003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153435

[Term]
id: MONDO:0001463
name: splenic flexure cancer
def: "A malignant neoplasm involving the splenic flexure of colon." [MONDO:DesignPattern]
synonym: "Ca splenic flexure - colon" EXACT [DOID:12191]
synonym: "cancer of splenic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of splenic flexure" EXACT [DOID:12191, ICD9CM_2006:153.7]
synonym: "malignant neoplasm of splenic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant splenic flexure of colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of splenic flexure" EXACT [DOID:12191]
synonym: "splenic flexure of colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:12191 {source="MONDO:equivalentTo"}
xref: ICD10:C18.5 {source="DOID:12191"}
xref: ICD9:153.7 {source="DOID:12191", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363413005 {source="DOID:12191", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153440 {source="DOID:12191", source="MONDO:equivalentTo"}
is_a: MONDO:0001462 {source="DOID:12191", source="linkedlifedata"} ! descending colon cancer
property_value: closeMatch http://identifiers.org/snomedct/154461009
property_value: closeMatch http://identifiers.org/snomedct/269540004
property_value: closeMatch http://identifiers.org/snomedct/94072004
property_value: exactMatch DOID:12191
property_value: exactMatch http://identifiers.org/snomedct/363413005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153440

[Term]
id: MONDO:0001464
name: sigmoid colon cancer
def: "A malignant neoplasm involving the sigmoid colon." [MONDO:DesignPattern]
synonym: "Ca sigmoid colon" EXACT [DOID:12192]
synonym: "cancer of sigmoid colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sigmoid colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant sigmoid colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of sigmoid colon" EXACT [DOID:12192]
synonym: "sigmoid colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:12192 {source="MONDO:equivalentTo"}
xref: ICD10:C18.7 {source="DOID:12192"}
xref: ICD9:153.3 {source="DOID:12192", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363410008 {source="DOID:12192", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153436 {source="DOID:12192", source="MONDO:equivalentTo"}
is_a: MONDO:0006971 {source="MONDO:Redundant", source="MONDOLEX:0001464", source="OWLReasoner:2017", source="linkedlifedata"} ! sigmoid neoplasm
is_a: MONDO:0021063 {source="DOID:12192", source="MONDO:Redundant", source="MONDOLEX:0001464", source="linkedlifedata"} ! malignant colon neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154458008
property_value: closeMatch http://identifiers.org/snomedct/269537004
property_value: closeMatch http://identifiers.org/snomedct/94006002
property_value: exactMatch DOID:12192
property_value: exactMatch http://identifiers.org/snomedct/363410008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153436

[Term]
id: MONDO:0001465
name: superficial keratitis
xref: COHD:374643 {source="MONDO:equivalentTo"}
xref: DOID:12196 {source="MONDO:equivalentTo"}
xref: ICD10:H16.10 {source="DOID:12196"}
xref: ICD9:370.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:12196"}
xref: SCTID:27019000 {source="MONDO:equivalentTo", source="DOID:12196", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155074 {source="MONDO:equivalentTo", source="DOID:12196"}
is_a: MONDO:0003085 {source="DOID:12196", source="linkedlifedata"} ! keratitis
property_value: closeMatch http://identifiers.org/snomedct/193766004
property_value: exactMatch DOID:12196
property_value: exactMatch http://identifiers.org/snomedct/27019000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155074

[Term]
id: MONDO:0001466
name: punctate epithelial keratoconjunctivitis
synonym: "punctate keratitis" EXACT [DOID:12197, ICD9CM_2006:370.21]
synonym: "Thygeson superficial punctate keratitis" EXACT [DOID:12197]
synonym: "Thygeson's superficial punctate keratitis" EXACT [DOID:12197]
xref: COHD:375265 {source="MONDO:equivalentTo"}
xref: DOID:12197 {source="MONDO:equivalentTo"}
xref: ICD10:H16.14 {source="DOID:12197"}
xref: ICD9:370.21 {source="DOID:12197"}
xref: SCTID:416069001 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12197"}
xref: UMLS:C0259799 {source="MONDO:equivalentTo", source="DOID:12197"}
is_a: MONDO:0001465 {source="DOID:12197", source="linkedlifedata", source="linkedlifedata/inferred"} ! superficial keratitis
is_a: MONDO:0004768 {source="DOID:12197", source="MONDOLEX:0001466"} ! keratoconjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193767008
property_value: closeMatch http://identifiers.org/snomedct/267634006
property_value: closeMatch http://identifiers.org/snomedct/42513006
property_value: exactMatch DOID:12197
property_value: exactMatch http://identifiers.org/snomedct/416069001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259799

[Term]
id: MONDO:0001467
name: obsolete specific bursitis often of occupational origin
synonym: "specific bursitides often of occupational origin" EXACT [DOID:12223, ICD9CM_2006:727.2]
xref: COHD:137652 {source="MONDO:equivalentTo"}
xref: DOID:12223 {source="MONDO:equivalentTo"}
xref: ICD9:727.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:12223"}
xref: SCTID:42812006 {source="MONDO:equivalentTo", source="DOID:12223", source="MONDO:kboom-pr-1.00/0.91/27.74"}
xref: UMLS:C0158332 {source="MONDO:equivalentTo", source="DOID:12223"}
property_value: exactMatch DOID:12223
property_value: exactMatch http://identifiers.org/snomedct/42812006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158332
is_obsolete: true

[Term]
id: MONDO:0001468
name: synovial plica syndrome
synonym: "plica syndrome" EXACT []
synonym: "synovial plica of knee" EXACT []
xref: DOID:12225 {source="MONDO:equivalentTo"}
xref: ICD10:M67.5 {source="DOID:12225"}
xref: ICD9:727.83 {source="DOID:12225"}
xref: ICD9:727.9 {source="i2s"}
xref: SCTID:240171001 {source="MONDO:equivalentTo"}
xref: UMLS:C0410485 {source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:12225", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthropathy
is_a: MONDO:0044967 ! limb disorder
is_a: MONDO:0056799 ! synovium disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878705
property_value: exactMatch DOID:12225
property_value: exactMatch http://identifiers.org/snomedct/240171001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410485

[Term]
id: MONDO:0001469
name: cascade stomach
synonym: "hourglass stricture or stenosis of stomach" EXACT [DOID:12234, ICD9CM_2006:537.6]
xref: DOID:12234 {source="MONDO:equivalentTo"}
xref: ICD10:K31.2 {source="DOID:12234"}
xref: ICD9:537.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:12234"}
xref: SCTID:54051005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12234"}
xref: UMLS:C0267183 {source="MONDO:equivalentTo", source="DOID:12234"}
is_a: MONDO:0004298 {source="DOID:12234", source="linkedlifedata"} ! stomach disease
property_value: exactMatch DOID:12234
property_value: exactMatch http://identifiers.org/snomedct/54051005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267183

[Term]
id: MONDO:0001470
name: anal margin squamous cell carcinoma
def: "A squamous cell carcinoma arising from the perianal skin." [NCIT:C6925]
synonym: "anal margin squamous cell carcinoma" EXACT [NCIT:C6925]
synonym: "perianal skin squamous cell carcinoma" EXACT [DOID:12239, MONDO:patterns/location, NCIT:C6925]
synonym: "squamous cell carcinoma of anal margin" EXACT [DOID:12239, NCIT:C6925]
synonym: "squamous cell carcinoma of the anal margin" EXACT [NCIT:C6925]
xref: DOID:12239 {source="MONDO:equivalentTo"}
xref: ICD10:C44.520 {source="DOID:12239"}
xref: ICD9:173.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6925 {source="DOID:12239", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:255084004 {source="DOID:12239", source="MONDO:kboom-pr-0.85/0.64/0.49", source="MONDO:equivalentTo"}
xref: UMLS:C1412037 {source="DOID:12239", source="MONDO:equivalentTo", source="NCIT:C6925"}
is_a: MONDO:0002529 {source="DOID:12239", source="MONDO:Redundant", source="MONDOLEX:0001470"} ! skin squamous cell carcinoma
is_a: MONDO:0002941 {source="DOID:12239", source="MONDO:Redundant", source="MONDOLEX:0001470", source="NCIT:C6925"} ! anal margin carcinoma
is_a: MONDO:0006082 {source="MONDO:Redundant", source="NCIT:C6925"} ! anal squamous cell carcinoma
property_value: exactMatch DOID:12239
property_value: exactMatch http://identifiers.org/snomedct/255084004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412037
property_value: exactMatch NCIT:C6925

[Term]
id: MONDO:0001471
name: histoplasmosis meningitis
def: "An infectious meningitis caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum infectious meningitis" EXACT []
synonym: "histoplasmosis with meningitis" EXACT [DOID:12246]
xref: DOID:12246 {source="MONDO:equivalentTo"}
xref: ICD9:115.91 {source="DOID:12246"}
is_a: MONDO:0002099 ! Histoplasma capsulatum infectious disease
is_a: MONDO:0006764 {source="DOID:12246", source="MONDO:Entailed", source="MONDO:Redundant"} ! fungal meningitis
property_value: closeMatch http://identifiers.org/snomedct/187057005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153277
property_value: exactMatch DOID:12246

[Term]
id: MONDO:0001472
name: testicular lymphoma
def: "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site." [NCIT:C6810]
synonym: "lymphoma of testis" EXACT [NCIT:C6810]
synonym: "lymphoma of the testis" EXACT [DOID:12253]
synonym: "malignant lymphoma of testis" EXACT [DOID:12253]
synonym: "primary testicular lymphoma" EXACT [NCIT:C6810]
synonym: "testicular lymphoma" EXACT [DOID:12253, NCIT:C6810]
synonym: "TLYM" RELATED [ONCOTREE:TLYM]
xref: DOID:12253 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6810 {source="MONDO:equivalentTo", source="DOID:12253", source="exact-label-match"}
xref: ONCOTREE:TLYM {source="MONDO:equivalentTo"}
xref: SCTID:277664004 {source="MONDO:equivalentTo", source="DOID:12253", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349644 {source="MONDO:equivalentTo", source="NCIT:C6810", source="DOID:12253"}
is_a: MONDO:0005447 {source="DOID:12253", source="NCIT:C6810", source="linkedlifedata"} ! testicular cancer
property_value: exactMatch DOID:12253
property_value: exactMatch http://identifiers.org/snomedct/277664004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349644
property_value: exactMatch NCIT:C6810

[Term]
id: MONDO:0001473
name: medulloadrenal hyperfunction
xref: COHD:440972 {source="MONDO:equivalentTo"}
xref: DOID:12257 {source="MONDO:equivalentTo"}
xref: ICD10:E27.5 {source="DOID:12257"}
xref: ICD9:255.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:12257"}
xref: SCTID:111565003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12257"}
xref: UMLS:C0154206 {source="MONDO:equivalentTo", source="DOID:12257"}
is_a: MONDO:0005495 {source="DOID:12257", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disease
property_value: exactMatch DOID:12257
property_value: exactMatch http://identifiers.org/snomedct/111565003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154206

[Term]
id: MONDO:0001474
name: chronic salpingo-oophoritis
def: "Chronic form of salpingo-oophoritis." [MONDO:patterns/chronic]
synonym: "chronic salpingitis and oophoritis" EXACT [DOID:12265, ICD9CM_2006:614.1]
synonym: "chronic salpingitis/oophoritis" EXACT [DOID:12265]
synonym: "chronic salpingo-oophoritis" EXACT [DOID:12265]
synonym: "salpingo-oophoritis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:198201 {source="MONDO:equivalentTo"}
xref: DOID:12265 {source="MONDO:equivalentTo"}
xref: ICD10:N70.1 {source="DOID:12265"}
xref: ICD10:N70.13 {source="DOID:12265"}
xref: ICD9:614.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12265"}
xref: SCTID:198142001 {source="MONDO:equivalentTo", source="DOID:12265", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156328 {source="MONDO:equivalentTo", source="DOID:12265"}
is_a: MONDO:0001172 {source="DOID:12265", source="MONDO:Redundant", source="MONDOLEX:0001474", source="linkedlifedata"} ! salpingo-oophoritis
is_a: MONDO:0003617 {source="MONDO:Redundant", source="MONDOLEX:0001474", source="OWLReasoner:2017", source="linkedlifedata"} ! chronic salpingitis
property_value: closeMatch http://identifiers.org/snomedct/155970008
property_value: closeMatch http://identifiers.org/snomedct/198140009
property_value: closeMatch http://identifiers.org/snomedct/198146003
property_value: closeMatch http://identifiers.org/snomedct/266649009
property_value: exactMatch DOID:12265
property_value: exactMatch http://identifiers.org/snomedct/198142001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156328

[Term]
id: MONDO:0001475
name: neutropenia
def: "A decrease in the number of neutrophils found in the blood." [MESH:D009503]
synonym: "neutropenic disorder" EXACT []
xref: DOID:1227 {source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="DOID:1227"}
xref: ICD10:D70.9 {source="DOID:1227"}
xref: ICD9:288.0 {source="DOID:1227"}
xref: ICD9:288.00 {source="DOID:1227"}
xref: MESH:D009503 {source="MONDO:equivalentTo", source="DOID:1227", source="MONDO:ontobio"}
xref: SCTID:303011007 {source="MONDO:equivalentTo", source="DOID:1227"}
xref: UMLS:C0027947 {source="MONDO:equivalentTo", source="DOID:1227"}
is_a: MONDO:0001609 {source="DOID:1227", source="MESH:D009503"} ! agranulocytosis
property_value: closeMatch http://identifiers.org/snomedct/142928004
property_value: closeMatch http://identifiers.org/snomedct/191336001
property_value: closeMatch http://identifiers.org/snomedct/72885007
property_value: exactMatch DOID:1227
property_value: exactMatch http://identifiers.org/mesh/D009503
property_value: exactMatch http://identifiers.org/snomedct/303011007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027947

[Term]
id: MONDO:0001476
name: coloboma
def: "An abnormality in which a part of a structure in one or both eyes is missing." [NCIT:P378]
synonym: "coloboma of eye" EXACT [DOID:12270]
synonym: "coloboma of macula" NARROW [DOID:12270]
synonym: "coloboma of the eye" EXACT [NCIT:C98877]
synonym: "congenital ocular coloboma" NARROW [DOID:12270]
xref: DOID:12270 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.0 {source="DOID:12270"}
xref: ICD9:743.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003103 {source="DOID:12270", source="MONDO:equivalentTo"}
xref: NCIT:C98877 {source="DOID:12270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: SCTID:93390002 {source="DOID:12270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.62/0.50"}
is_a: MONDO:0005328 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/92828000
property_value: exactMatch DOID:12270
property_value: exactMatch http://identifiers.org/mesh/D003103
property_value: exactMatch http://identifiers.org/snomedct/93390002
property_value: exactMatch NCIT:C98877

[Term]
id: MONDO:0001477
name: obsolete aniridia
is_obsolete: true
replaced_by: MONDO:0019172

[Term]
id: MONDO:0001478
name: anisometropia (disease)
def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858]
synonym: "anisometropia" EXACT [MONDO:ambiguous]
xref: COHD:375547 {source="MONDO:equivalentTo"}
xref: CSP:1116-1678 {source="DOID:12273"}
xref: DOID:12273 {source="MONDO:equivalentTo"}
xref: HP:0012803 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H52.31 {source="MONDO:equivalentTo", source="DOID:12273"}
xref: ICD9:367.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:12273"}
xref: MESH:D015858 {source="MONDO:equivalentTo", source="DOID:12273", source="MONDO:ontobio"}
xref: SCTID:3289004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12273"}
xref: UMLS:C0003081 {source="MONDO:equivalentTo", source="DOID:12273"}
is_a: MONDO:0004892 {source="DOID:12273", source="MESH:D015858", source="linkedlifedata"} ! refractive error
property_value: exactMatch DOID:12273
property_value: exactMatch http://identifiers.org/mesh/D015858
property_value: exactMatch http://identifiers.org/snomedct/3289004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003081

[Term]
id: MONDO:0001479
name: cutaneous diphtheria
def: "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." [NCIT:P378]
synonym: "cutaneous diphtheria" EXACT [DOID:12275, NCIT:C34544]
xref: DOID:12275 {source="MONDO:equivalentTo"}
xref: EFO:1000683 {source="MONDO:equivalentTo"}
xref: ICD10:A36.3 {source="MONDO:equivalentTo", source="DOID:12275"}
xref: ICD9:032.85 {source="MONDO:equivalentTo", source="i2s", source="DOID:12275"}
xref: NCIT:C34544 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12275"}
xref: SCTID:18901009 {source="MONDO:equivalentTo", source="DOID:12275", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0012555 {source="MONDO:equivalentTo", source="DOID:12275", source="NCIT:C34544"}
is_a: MONDO:0002922 {source="DOID:12275", source="MONDO:Redundant"} ! pyoderma
is_a: MONDO:0021201 {source="NCIT:C34544", source="linkedlifedata/inferred"} ! skin infection
property_value: exactMatch DOID:12275
property_value: exactMatch http://identifiers.org/snomedct/18901009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012555
property_value: exactMatch NCIT:C34544

[Term]
id: MONDO:0001480
name: malignant tumor of undescended testis
synonym: "malignant neoplasm of retained testis" EXACT [DOID:12276, MTHICD9_2006:186.0]
synonym: "malignant neoplasm of undescended testis" EXACT [DOID:12276, ICD9CM_2006:186.0]
synonym: "malignant tumor of retained testis" EXACT [DOID:12276]
xref: COHD:4092524 {source="MONDO:equivalentTo"}
xref: DOID:12276 {source="MONDO:equivalentTo"}
xref: ICD10:C62.0 {source="DOID:12276"}
xref: ICD9:186.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12276"}
xref: SCTID:188219004 {source="MONDO:equivalentTo", source="DOID:12276", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153595 {source="MONDO:equivalentTo", source="DOID:12276"}
is_a: MONDO:0005447 {source="DOID:12276", source="linkedlifedata"} ! testicular cancer
property_value: closeMatch http://identifiers.org/snomedct/188221009
property_value: closeMatch http://identifiers.org/snomedct/188224001
property_value: closeMatch http://identifiers.org/snomedct/94113004
property_value: exactMatch DOID:12276
property_value: exactMatch http://identifiers.org/snomedct/188219004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153595

[Term]
id: MONDO:0001481
name: femoral vein thrombophlebitis
def: "A thrombophlebitis that involves the femoral vein." [MONDO:patterns/location]
synonym: "femoral vein thrombophlebitis" EXACT [MONDO:patterns/location]
synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [DOID:12282]
synonym: "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [DOID:12282, ICD9CM_2006:451.11]
synonym: "thrombophlebitis of deep femoral vein" EXACT [DOID:12282]
synonym: "thrombophlebitis of femoral vein" EXACT [MONDO:design_pattern]
synonym: "thrombophlebitis of the femoral vein" EXACT [DOID:12282]
xref: COHD:439314 {source="MONDO:equivalentTo"}
xref: DOID:12282 {source="MONDO:equivalentTo"}
xref: ICD10:I80.1 {source="DOID:12282"}
xref: ICD9:451.11 {source="DOID:12282"}
xref: SCTID:1748006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12282"}
xref: UMLS:C0265066 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:12282"}
is_a: MONDO:0002800 {source="DOID:12282", source="MONDO:Redundant", source="MONDOLEX:0001481"} ! thrombophlebitis
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/195410000
property_value: exactMatch DOID:12282
property_value: exactMatch http://identifiers.org/snomedct/1748006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265066

[Term]
id: MONDO:0001482
name: testicular leukemia
def: "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" [NCIT:C9277]
synonym: "testicular leukemia" EXACT [NCIT:C9277]
xref: DOID:12286 {source="MONDO:equivalentTo"}
xref: NCIT:C9277 {source="MONDO:equivalentTo", source="DOID:12286", source="exact-label-match"}
xref: UMLS:C1336711 {source="NCIT:C9277", source="MONDO:equivalentTo", source="DOID:12286"}
is_a: MONDO:0005059 {source="NCIT:C9277"} ! leukemia (disease)
is_a: MONDO:0005447 {source="DOID:12286", source="NCIT:C9277"} ! testicular cancer
is_a: MONDO:0021138 ! bone marrow cancer
property_value: exactMatch DOID:12286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336711
property_value: exactMatch NCIT:C9277

[Term]
id: MONDO:0001483
name: obsolete Crimean-Congo hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0020501

[Term]
id: MONDO:0001484
name: paranoid schizophrenia
def: "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." [NCIT:P378]
synonym: "chronic paranoid schizophrenia" EXACT [DOID:1229]
synonym: "paranoid type schizophrenia" EXACT [DOID:1229, ICD9CM_2006:295.3]
synonym: "paranoid type schizophrenia subchronic state" EXACT [DOID:1229]
synonym: "paraphrenia - late" EXACT [DOID:1229]
synonym: "paraphrenic schizophrenia" EXACT [DOID:1229, MTHICD9_2006:295.3]
xref: COHD:433450 {source="MONDO:equivalentTo"}
xref: DOID:1229 {source="MONDO:equivalentTo"}
xref: ICD10:F20.0 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: ICD9:295.3 {source="DOID:1229"}
xref: ICD9:295.30 {source="DOID:1229"}
xref: ICD9:295.31 {source="DOID:1229"}
xref: ICD9:295.32 {source="MONDO:equivalentTo", source="i2s", source="DOID:1229"}
xref: MESH:D012563 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: NCIT:C35006 {source="MONDO:equivalentTo", source="DOID:1229", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:31658008 {source="MONDO:equivalentTo", source="DOID:1229", source="MONDO:kboom-pr-0.85/0.68/0.17"}
is_a: MONDO:0005090 {source="DOID:1229", source="NCIT:C35006", source="linkedlifedata", source="linkedlifedata/inferred"} ! schizophrenia (disease)
property_value: closeMatch http://identifiers.org/snomedct/154865007
property_value: closeMatch http://identifiers.org/snomedct/154869001
property_value: closeMatch http://identifiers.org/snomedct/191551006
property_value: closeMatch http://identifiers.org/snomedct/191553009
property_value: closeMatch http://identifiers.org/snomedct/191557005
property_value: closeMatch http://identifiers.org/snomedct/192319007
property_value: closeMatch http://identifiers.org/snomedct/192330005
property_value: closeMatch http://identifiers.org/snomedct/268747005
property_value: closeMatch http://identifiers.org/snomedct/268748000
property_value: closeMatch http://identifiers.org/snomedct/64905009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036349
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154354
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270398
property_value: exactMatch DOID:1229
property_value: exactMatch http://identifiers.org/mesh/D012563
property_value: exactMatch http://identifiers.org/snomedct/31658008
property_value: exactMatch NCIT:C35006

[Term]
id: MONDO:0001485
name: atypical depressive disorder
def: "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." [DOID:12294, http://en.wikipedia.org/wiki/Mood_disorder]
synonym: "atypical depression" EXACT [DOID:12294]
xref: COHD:438727 {source="MONDO:equivalentTo"}
xref: DOID:12294 {source="MONDO:equivalentTo"}
xref: ICD10:F32.8 {source="DOID:12294"}
xref: ICD9:296.82 {source="DOID:12294", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:191659001 {source="DOID:12294", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005371 {source="DOID:12294", source="linkedlifedata", source="linkedlifedata/inferred"} ! mood disorder
property_value: closeMatch http://identifiers.org/snomedct/192371004
property_value: closeMatch http://identifiers.org/snomedct/277538003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154437
property_value: exactMatch DOID:12294
property_value: exactMatch http://identifiers.org/snomedct/191659001

[Term]
id: MONDO:0001486
name: obsolete Vogt-Koyanagi-Harada disease
is_obsolete: true
replaced_by: MONDO:0018092

[Term]
id: MONDO:0001487
name: intrahepatic bile duct cancer
def: "A cancer that involves the intrahepatic bile duct." [MONDO:patterns/location]
comment: Editor note: consider merge
synonym: "Ca intrahepatic bile ducts" EXACT [DOID:12298]
synonym: "cancer of intrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of intrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [DOID:12298, ICD9CM_2006:155.1]
synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [DOID:12298, MTHICD9_2006:155.1]
xref: DOID:12298 {source="MONDO:equivalentTo"}
xref: ICD9:155.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12298"}
xref: SCTID:187777008 {source="MONDO:equivalentTo", source="DOID:12298", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0546835 {source="MONDO:equivalentTo", source="DOID:12298"}
is_a: MONDO:0003059 ! bile duct cancer
relationship: excluded_subClassOf MONDO:0005411 {source="DOID:12298"} ! gallbladder cancer
property_value: closeMatch http://identifiers.org/snomedct/154471006
property_value: closeMatch http://identifiers.org/snomedct/187772002
property_value: closeMatch http://identifiers.org/snomedct/187775000
property_value: closeMatch http://identifiers.org/snomedct/187778003
property_value: closeMatch http://identifiers.org/snomedct/269549003
property_value: closeMatch http://identifiers.org/snomedct/93840005
property_value: exactMatch DOID:12298
property_value: exactMatch http://identifiers.org/snomedct/187777008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546835

[Term]
id: MONDO:0001488
name: anterior corneal pigmentation
synonym: "anterior corneal pigmentations" EXACT [DOID:12307]
xref: DOID:12307 {source="MONDO:equivalentTo"}
xref: ICD10:H18.01 {source="DOID:12307"}
xref: ICD9:371.11 {source="DOID:12307", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:18377001 {source="DOID:12307", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155104 {source="DOID:12307", source="MONDO:equivalentTo"}
is_a: MONDO:0001308 {source="DOID:12307", source="linkedlifedata"} ! corneal deposit
property_value: closeMatch http://identifiers.org/snomedct/193805008
property_value: closeMatch http://identifiers.org/snomedct/270489003
property_value: exactMatch DOID:12307
property_value: exactMatch http://identifiers.org/snomedct/18377001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155104

[Term]
id: MONDO:0001489
name: obsolete urticaria pigmentosa
is_obsolete: true
replaced_by: MONDO:0019316

[Term]
id: MONDO:0001490
name: corneal granular dystrophy
def: "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." [NCIT:P378]
synonym: "granular corneal dystrophy" EXACT [DOID:12318, ICD9CM_2006:371.53]
xref: DOID:12318 {source="MONDO:equivalentTo"}
xref: ICD10:H18.53 {source="DOID:12318", source="MONDO:equivalentTo"}
xref: ICD9:371.53 {source="DOID:12318", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34651 {source="DOID:12318", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:45283008 {source="DOID:12318", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0018179 {source="DOID:12318", source="MONDO:equivalentTo", source="NCIT:C34651"}
is_a: MONDO:0000764 {source="DOID:12318"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0003847 {source="NCIT:C34651"} ! Mendelian disease
property_value: exactMatch DOID:12318
property_value: exactMatch http://identifiers.org/snomedct/45283008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018179
property_value: exactMatch NCIT:C34651

[Term]
id: MONDO:0001491
name: cough variant asthma
def: "An asthma that is characterized by chronic nonproductive cough without shortness of breath." [DOID:12323, http://www.aaaai.org/patients/topicofthemonth/0107/, PMID:19272144]
xref: COHD:313236 {source="MONDO:equivalentTo"}
xref: DOID:12323 {source="MONDO:equivalentTo"}
xref: ICD10:J45.991 {source="MONDO:equivalentTo", source="DOID:12323"}
xref: ICD9:493.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:12323"}
xref: SCTID:409663006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12323"}
xref: UMLS:C0694548 {source="MONDO:equivalentTo", source="DOID:12323"}
is_a: MONDO:0004979 {source="DOID:12323", source="ICD10:J45.991"} ! asthma
property_value: exactMatch DOID:12323
property_value: exactMatch http://identifiers.org/snomedct/409663006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0694548

[Term]
id: MONDO:0001492
name: kyphoscoliotic heart disease
xref: COHD:317000 {source="MONDO:equivalentTo"}
xref: DOID:12325 {source="MONDO:equivalentTo"}
xref: ICD10:I27.1 {source="DOID:12325", source="MONDO:equivalentTo"}
xref: ICD9:416.1 {source="DOID:12325", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:45650007 {source="DOID:12325", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152102 {source="DOID:12325", source="MONDO:equivalentTo"}
is_a: MONDO:0001493 {source="DOID:12325"} ! chronic pulmonary heart disease
property_value: closeMatch http://identifiers.org/snomedct/194886003
property_value: exactMatch DOID:12325
property_value: exactMatch http://identifiers.org/snomedct/45650007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152102

[Term]
id: MONDO:0001493
name: chronic pulmonary heart disease
def: "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." [NCIT:C34478]
synonym: "Cor pulmonale" EXACT [NCIT:C34478]
synonym: "Cor pulmonale" RELATED [NCIT:C34478]
xref: COHD:315831 {source="MONDO:equivalentTo"}
xref: DOID:12326 {source="MONDO:equivalentTo"}
xref: ICD9:416.8 {source="DOID:12326", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:416.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34478 {source="MONDO:kboom-pr-0.91/0.77/0.63", source="MONDO:equivalentTo"}
xref: SCTID:87837008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0238074 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34478"}
is_a: MONDO:0004596 {source="DOID:12326", source="linkedlifedata"} ! cor pulmonale
property_value: closeMatch http://identifiers.org/snomedct/194887007
property_value: closeMatch http://identifiers.org/snomedct/194889005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155673
property_value: exactMatch DOID:12326
property_value: exactMatch http://identifiers.org/snomedct/87837008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238074
property_value: exactMatch NCIT:C34478

[Term]
id: MONDO:0001494
name: obsolete transvestism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." [NCIT:P378]
synonym: "cross dresser" EXACT [CSP2005:4008-0087, DOID:1233]
synonym: "dual-role transvestism" EXACT [DOID:1233]
synonym: "Transvestic fetishism" EXACT [DOID:1233, ICD9CM_2006:302.3]
xref: DOID:1233 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:F64.1 {source="DOID:1233"}
xref: ICD10:F65.1 {source="DOID:1233"}
xref: ICD9:302.3 {source="DOID:1233"}
xref: MESH:D014190 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: NCIT:C94359 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: SCTID:472981000 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: UMLS:C0040774 {source="MONDO:obsoleteEquivalent", source="DOID:1233", source="MONDO:notFoundInDiseaseSubset"}
property_value: closeMatch http://identifiers.org/snomedct/154907002
property_value: closeMatch http://identifiers.org/snomedct/191780004
property_value: closeMatch http://identifiers.org/snomedct/192509002
property_value: closeMatch http://identifiers.org/snomedct/248108005
property_value: closeMatch http://identifiers.org/snomedct/268763002
property_value: closeMatch http://identifiers.org/snomedct/472948001
property_value: closeMatch http://identifiers.org/snomedct/472989003
property_value: closeMatch http://identifiers.org/snomedct/63495002
property_value: exactMatch DOID:1233
property_value: exactMatch http://identifiers.org/mesh/D014190
property_value: exactMatch http://identifiers.org/snomedct/472981000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040774
property_value: exactMatch NCIT:C94359
is_obsolete: true

[Term]
id: MONDO:0001495
name: hematocele of tunica vaginalis testis
def: "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." [MESH:D006398]
synonym: "hematocele" EXACT [DOID:12332, MTHICD9_2006:608.83]
synonym: "male hematocele" EXACT [DOID:12332]
xref: DOID:12332 {source="MONDO:equivalentTo"}
xref: MESH:D006398 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12332"}
xref: SCTID:66259004 {source="MONDO:equivalentTo", source="DOID:12332", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018931 {source="MONDO:equivalentTo", source="DOID:12332"}
xref: UMLS:C1456400 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="DOID:12332", source="MESH:D006398", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: exactMatch DOID:12332
property_value: exactMatch http://identifiers.org/mesh/D006398
property_value: exactMatch http://identifiers.org/snomedct/66259004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018931
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456400

[Term]
id: MONDO:0001496
name: male genital organ stricture
synonym: "stricture of male genital organs" EXACT [DOID:12333, ICD9CM_2006:608.85]
xref: COHD:194999 {source="MONDO:equivalentTo"}
xref: DOID:12333 {source="MONDO:equivalentTo"}
xref: ICD9:608.85 {source="MONDO:equivalentTo", source="i2s", source="DOID:12333"}
xref: SCTID:198064007 {source="MONDO:equivalentTo", source="DOID:12333", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003150 {source="DOID:12333", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/198067000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156316
property_value: exactMatch DOID:12333
property_value: exactMatch http://identifiers.org/snomedct/198064007

[Term]
id: MONDO:0001497
name: male genital organ vascular disease
synonym: "vascular disorder of male genital organs" EXACT [DOID:12335, ICD9CM_2006:608.83]
xref: DOID:12335 {source="MONDO:equivalentTo"}
xref: ICD10:N50.1 {source="DOID:12335"}
xref: ICD9:608.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:12335"}
xref: SCTID:198057005 {source="MONDO:equivalentTo", source="DOID:12335"}
xref: UMLS:C0042374 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="DOID:12335"}
is_a: MONDO:0003150 {source="DOID:12335", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: exactMatch DOID:12335
property_value: exactMatch http://identifiers.org/snomedct/198057005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042374

[Term]
id: MONDO:0001498
name: varicocele
def: "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646]
synonym: "scrotal varices" EXACT [DOID:12337, ICD9CM_2006:456.4]
synonym: "scrotum varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of scrotum" EXACT [MONDO:design_pattern]
xref: COHD:73801 {source="MONDO:equivalentTo"}
xref: DOID:12337 {source="MONDO:equivalentTo"}
xref: ICD10:I86.1 {source="DOID:12337", source="MONDO:equivalentTo"}
xref: ICD9:456.4 {source="DOID:12337", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014646 {source="DOID:12337", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:46871008 {source="DOID:12337", source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0042341 {source="DOID:12337", source="MONDO:equivalentTo"}
is_a: MONDO:0004869 {source="DOID:12337"} ! pelvic varices
is_a: MONDO:0045003 ! scrotal disease
property_value: closeMatch http://identifiers.org/snomedct/155480003
property_value: closeMatch http://identifiers.org/snomedct/195480007
property_value: closeMatch http://identifiers.org/snomedct/51070004
property_value: exactMatch DOID:12337
property_value: exactMatch http://identifiers.org/mesh/D014646
property_value: exactMatch http://identifiers.org/snomedct/46871008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042341

[Term]
id: MONDO:0001499
name: retroperitoneal lymphoma
def: "A lymphoma that involves the retroperitoneal space." [MONDO:patterns/location]
synonym: "lymphoma of retroperitoneal space" EXACT [MONDO:design_pattern]
synonym: "primary retroperitoneal lymphoma" EXACT [NCIT:C7353]
synonym: "retroperitoneal lymphoma" EXACT [NCIT:C7353]
synonym: "retroperitoneal space lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:12339 {source="MONDO:equivalentTo"}
xref: NCIT:C7353 {source="DOID:12339", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:422853008 {source="MONDO:equivalentTo"}
xref: UMLS:C1335779 {source="DOID:12339", source="NCIT:C7353", source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C7353/inferred", source="OWLReasoner:2017"} ! lymphoma
is_a: MONDO:0005941 {source="DOID:12339", source="NCIT:C7353"} ! retroperitoneal cancer
property_value: exactMatch DOID:12339
property_value: exactMatch http://identifiers.org/snomedct/422853008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335779
property_value: exactMatch NCIT:C7353

[Term]
id: MONDO:0001500
name: gender identity disorder
def: "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." [NCIT:C94362]
xref: DOID:1234 {source="MONDO:equivalentTo"}
xref: EFO:0008587 {source="MONDO:equivalentTo"}
xref: ICD10:F64.2 {source="DOID:1234"}
xref: ICD9:302.6 {source="DOID:1234"}
xref: ICD9:302.8 {source="DOID:1234"}
xref: ICD9:302.85 {source="DOID:1234"}
xref: ICD9:302.89 {source="DOID:1234"}
xref: NCIT:C94362 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:87991007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002025 {source="DOID:1234", source="NCIT:C94362/inferred"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/5095008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017250
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029825
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154467
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236802
property_value: exactMatch DOID:1234
property_value: exactMatch http://identifiers.org/snomedct/87991007
property_value: exactMatch NCIT:C94362

[Term]
id: MONDO:0001501
name: retroperitoneal sarcoma
def: "A sarcoma involving a retroperitoneal space." [MONDO:patterns/sarcoma]
synonym: "retroperitoneal sarcoma" EXACT [NCIT:C4832]
synonym: "retroperitoneal space sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of retroperitoneal space" EXACT [MONDO:patterns/sarcoma]
xref: DOID:12341 {source="MONDO:equivalentTo"}
xref: NCIT:C4832 {source="MONDO:equivalentTo", source="DOID:12341", source="exact-label-match"}
xref: SCTID:307219002 {source="MONDO:equivalentTo", source="DOID:12341", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0585129 {source="MONDO:equivalentTo", source="NCIT:C4832", source="DOID:12341"}
is_a: MONDO:0005941 {source="DOID:12341", source="MONDO:Redundant", source="NCIT:C4832", source="linkedlifedata", source="linkedlifedata/inferred"} ! retroperitoneal cancer
is_a: MONDO:0018078 {source="NCIT:C4832"} ! soft tissue sarcoma
property_value: exactMatch DOID:12341
property_value: exactMatch http://identifiers.org/snomedct/307219002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585129
property_value: exactMatch NCIT:C4832

[Term]
id: MONDO:0001502
name: retroperitoneum carcinoma
def: "A carcinoma that arises from epithelial cells of the retroperitoneal space." [MONDO:DesignPattern]
synonym: "carcinoma of retroperitoneal space" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of retroperitoneum" EXACT [DOID:12342, NCIT:C7352]
synonym: "carcinoma of the retroperitoneum" EXACT [DOID:12342, NCIT:C7352]
synonym: "retroperitoneal cancer" EXACT [NCIT:C7352]
synonym: "retroperitoneal carcinoma" EXACT [NCIT:C7352]
synonym: "retroperitoneal space carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:12342 {source="MONDO:equivalentTo"}
xref: NCIT:C7352 {source="MONDO:equivalentTo", source="DOID:12342", source="MONDO:kboom-pr-0.98/0.76/3.33"}
xref: UMLS:C0948749 {source="NCIT:C7352", source="MONDO:equivalentTo", source="DOID:12342"}
is_a: MONDO:0004993 {source="DOID:12342", source="MONDO:Redundant", source="MONDOLEX:0001502", source="NCIT:C7352", source="OWLReasoner:2017"} ! carcinoma
is_a: MONDO:0005941 {source="DOID:12342", source="MONDO:Redundant", source="MONDOLEX:0001502", source="NCIT:C7352"} ! retroperitoneal cancer
property_value: exactMatch DOID:12342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948749
property_value: exactMatch NCIT:C7352

[Term]
id: MONDO:0001503
name: primary eye hypotony
synonym: "primary hypotony of eye" EXACT [DOID:12349]
xref: COHD:374346 {source="MONDO:equivalentTo"}
xref: DOID:12349 {source="MONDO:equivalentTo"}
xref: ICD10:H44.44 {source="DOID:12349"}
xref: ICD9:360.31 {source="DOID:12349", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:2251002 {source="DOID:12349", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154782 {source="DOID:12349", source="MONDO:equivalentTo"}
is_a: MONDO:0004390 {source="DOID:12349", source="linkedlifedata"} ! ocular hypotension
property_value: exactMatch DOID:12349
property_value: exactMatch http://identifiers.org/snomedct/2251002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154782

[Term]
id: MONDO:0001504
name: fetishism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the \"fetish\")." [NCIT:P378]
xref: DOID:1235 {source="MONDO:equivalentTo"}
xref: ICD10:F65.0 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: ICD9:302.81 {source="MONDO:equivalentTo", source="DOID:1235", source="i2s"}
xref: MESH:D005329 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: NCIT:C94353 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1235"}
xref: SCTID:59174009 {source="MONDO:equivalentTo", source="DOID:1235", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000596 {source="DOID:1235", source="MESH:D005329", source="linkedlifedata"} ! paraphilic disorder
property_value: closeMatch http://identifiers.org/snomedct/192513009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015957
property_value: exactMatch DOID:1235
property_value: exactMatch http://identifiers.org/mesh/D005329
property_value: exactMatch http://identifiers.org/snomedct/59174009
property_value: exactMatch NCIT:C94353

[Term]
id: MONDO:0001505
name: alcoholic hepatitis
def: "Acute hepatitis resulting from ingestion of alcohol." [NCIT:P378]
synonym: "acute alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34352]
synonym: "acute alcoholic hepatitis" EXACT [DOID:12351, ICD9CM_2006:571.1]
synonym: "acute alcoholic liver disease" EXACT [DOID:12351]
synonym: "alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34684]
synonym: "alcoholic hepatitis" EXACT [DOID:12351]
xref: COHD:201343 {source="MONDO:equivalentTo"}
xref: CSP:1754-6978 {source="DOID:12351"}
xref: DOID:12351 {source="MONDO:equivalentTo"}
xref: ICD10:K70.1 {source="MONDO:equivalentTo"}
xref: ICD9:571.1 {source="DOID:12351"}
xref: MESH:D006519 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34684 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.10"}
xref: SCTID:235875008 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0001306 {source="MONDO:equivalentTo", source="DOID:12351"}
is_a: MONDO:0002251 {source="DOID:12351", source="MESH:D006519", source="MONDO:Redundant", source="NCIT:C34684"} ! hepatitis
is_a: MONDO:0043693 {source="MESH:D006519", source="MONDO:Redundant", source="MONDOLEX:0001505", source="NCIT:C34684", source="linkedlifedata"} ! alcoholic liver diseases
property_value: closeMatch http://identifiers.org/snomedct/155810001
property_value: closeMatch http://identifiers.org/snomedct/9953008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019187
property_value: closeMatch NCIT:C34352
property_value: exactMatch DOID:12351
property_value: exactMatch http://identifiers.org/mesh/D006519
property_value: exactMatch http://identifiers.org/snomedct/235875008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001306
property_value: exactMatch NCIT:C34684

[Term]
id: MONDO:0001506
name: prostatocystitis
xref: DOID:12355 {source="MONDO:equivalentTo"}
xref: ICD10:N41.3 {source="MONDO:equivalentTo", source="DOID:12355"}
xref: ICD9:601.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12355"}
xref: SCTID:67685000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12355"}
xref: UMLS:C0156291 {source="MONDO:equivalentTo", source="DOID:12355"}
is_a: MONDO:0005280 ! prostatitis (disease)
is_a: MONDO:0006032 {source="DOID:12355", source="MONDO:Redundant", source="linkedlifedata"} ! cystitis
property_value: exactMatch DOID:12355
property_value: exactMatch http://identifiers.org/snomedct/67685000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156291

[Term]
id: MONDO:0001507
name: viral labyrinthitis
def: "An labyrinthitis caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "epidemic vertigo" EXACT [DOID:12357, ICD9CM_2006:078.81]
synonym: "epidemic vertigo (finding)" EXACT [DOID:12357]
synonym: "Viruses caused labyrinthitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses labyrinthitis" EXACT []
xref: COHD:75555 {source="MONDO:equivalentTo"}
xref: DOID:12357 {source="MONDO:equivalentTo"}
xref: ICD9:386.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:12357"}
xref: SCTID:409711008 {source="MONDO:equivalentTo", source="DOID:12357", source="MONDO:kboom-pr-0.93/0.83/0.57"}
xref: UMLS:C0155508 {source="MONDO:equivalentTo", source="DOID:12357"}
is_a: MONDO:0002008 {source="DOID:12357", source="DOID:12357/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! labyrinthitis
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0021666 ! ear infection
property_value: closeMatch http://identifiers.org/snomedct/34243007
property_value: exactMatch DOID:12357
property_value: exactMatch http://identifiers.org/snomedct/409711008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155508

[Term]
id: MONDO:0001508
name: patulous eustachian tube
def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." [DOID:12358, http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false]
xref: DOID:12358 {source="MONDO:equivalentTo"}
xref: GARD:0010812 {source="MONDO:equivalentTo"}
xref: ICD10:H69.0 {source="DOID:12358", source="MONDO:equivalentTo"}
xref: ICD10:H69.00 {source="DOID:12358"}
xref: ICD9:381.7 {source="DOID:12358", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:30280005 {source="DOID:12358", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155434 {source="DOID:12358", source="MONDO:equivalentTo"}
is_a: MONDO:0004866 {source="DOID:12358", source="linkedlifedata"} ! eustachian tube disease
property_value: exactMatch DOID:12358
property_value: exactMatch http://identifiers.org/snomedct/30280005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155434

[Term]
id: MONDO:0001509
name: endocrine exophthalmos
xref: DOID:12359 {source="MONDO:equivalentTo"}
xref: ICD9:376.2 {source="DOID:12359"}
xref: SCTID:276177000 {source="DOID:12359", source="MONDO:kboom-pr-0.99/0.72/4.58", source="MONDO:equivalentTo"}
xref: UMLS:C0155264 {source="DOID:12359", source="MONDO:equivalentTo"}
is_a: MONDO:0004751 {source="DOID:12359"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/194012006
property_value: closeMatch http://identifiers.org/snomedct/415717005
property_value: closeMatch http://identifiers.org/snomedct/53061005
property_value: exactMatch DOID:12359
property_value: exactMatch http://identifiers.org/snomedct/276177000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155264

[Term]
id: MONDO:0001510
name: lateral displacement of eye
synonym: "lateral displacement of globe" EXACT [DOID:12360, ICD9CM_2006:376.36]
xref: DOID:12360 {source="MONDO:equivalentTo"}
xref: ICD10:H05.21 {source="DOID:12360"}
xref: ICD9:376.36 {source="DOID:12360", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:48747004 {source="DOID:12360", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155272 {source="DOID:12360", source="MONDO:equivalentTo"}
is_a: MONDO:0004751 {source="DOID:12360"} ! disease of orbital part of eye adnexa
property_value: exactMatch DOID:12360
property_value: exactMatch http://identifiers.org/snomedct/48747004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155272

[Term]
id: MONDO:0001511
name: thyrotoxic exophthalmos
xref: COHD:440108 {source="MONDO:equivalentTo"}
xref: DOID:12362 {source="MONDO:equivalentTo"}
xref: ICD9:376.21 {source="MONDO:equivalentTo", source="DOID:12362", source="i2s"}
xref: SCTID:19885005 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="MONDO:equivalentTo", source="DOID:12362"}
xref: UMLS:C0155265 {source="MONDO:equivalentTo", source="DOID:12362"}
is_a: MONDO:0001509 {source="DOID:12362"} ! endocrine exophthalmos
property_value: exactMatch DOID:12362
property_value: exactMatch http://identifiers.org/snomedct/19885005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155265

[Term]
id: MONDO:0001512
name: intermittent proptosis
synonym: "intermittent exophthalmos" EXACT [DOID:12363, ICD9CM_2006:376.34]
xref: DOID:12363 {source="MONDO:equivalentTo"}
xref: ICD10:H05.25 {source="DOID:12363"}
xref: ICD9:376.34 {source="MONDO:equivalentTo", source="i2s", source="DOID:12363"}
xref: SCTID:49774006 {source="MONDO:equivalentTo", source="DOID:12363", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155270 {source="MONDO:equivalentTo", source="DOID:12363"}
is_a: MONDO:0004751 {source="DOID:12363"} ! disease of orbital part of eye adnexa
property_value: exactMatch DOID:12363
property_value: exactMatch http://identifiers.org/snomedct/49774006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155270

[Term]
id: MONDO:0001513
name: pulsating exophthalmos
xref: DOID:12364 {source="MONDO:equivalentTo"}
xref: ICD10:H05.26 {source="DOID:12364"}
xref: ICD9:376.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:12364"}
xref: SCTID:2284002 {source="MONDO:equivalentTo", source="DOID:12364", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155271 {source="MONDO:equivalentTo", source="DOID:12364"}
is_a: MONDO:0004751 {source="DOID:12364"} ! disease of orbital part of eye adnexa
property_value: exactMatch DOID:12364
property_value: exactMatch http://identifiers.org/snomedct/2284002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155271

[Term]
id: MONDO:0001514
name: prolapse of urethra
def: "Prolapse of the urethral mucosa from the exterior urethral opening." [NCIT:P378]
synonym: "urethrocele" EXACT [DOID:12369, ICD9CM_2006:618.03]
xref: COHD:441906 {source="MONDO:equivalentTo"}
xref: DOID:12369 {source="MONDO:equivalentTo"}
xref: ICD10:N81.0 {source="DOID:12369", source="MONDO:equivalentTo"}
xref: ICD9:599.5 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:618.03 {source="DOID:12369", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:12068006 {source="DOID:12369", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238502 {source="DOID:12369", source="MONDO:equivalentTo"}
is_a: MONDO:0001592 {source="DOID:12369", source="ICD10:N81.0"} ! prolapse of female genital organ
is_a: MONDO:0004184 {source="DOID:12369", source="linkedlifedata"} ! urethral disease
property_value: closeMatch http://identifiers.org/snomedct/197935003
property_value: exactMatch DOID:12369
property_value: exactMatch http://identifiers.org/snomedct/12068006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238502
property_value: exactMatch NCIT:C123256

[Term]
id: MONDO:0001515
name: corneal degeneration
xref: COHD:372635 {source="MONDO:equivalentTo"}
xref: DOID:1237 {source="MONDO:equivalentTo"}
xref: ICD10:H18.4 {source="MONDO:equivalentTo", source="DOID:1237"}
xref: ICD10:H18.40 {source="DOID:1237"}
xref: ICD9:371.4 {source="DOID:1237"}
xref: ICD9:371.40 {source="MONDO:equivalentTo", source="i2s", source="DOID:1237"}
xref: ICD9:371.49 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:111521006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1237"}
xref: UMLS:C0155118 {source="MONDO:equivalentTo", source="DOID:1237"}
is_a: MONDO:0000942 {source="DOID:1237", source="linkedlifedata"} ! corneal disease
property_value: closeMatch http://identifiers.org/snomedct/193824006
property_value: closeMatch http://identifiers.org/snomedct/193830006
property_value: exactMatch DOID:1237
property_value: exactMatch http://identifiers.org/snomedct/111521006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155118

[Term]
id: MONDO:0001516
name: spinal muscular atrophy
def: "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 , BICD2 , or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy]
subset: gard_rare {source="GARD:0007674"}
xref: COHD:372605 {source="MONDO:equivalentTo"}
xref: DOID:12377 {source="MONDO:equivalentTo"}
xref: EFO:0008525 {source="MONDO:equivalentTo"}
xref: GARD:0007674 {source="MONDO:equivalentTo"}
xref: ICD10:G12.9 {source="DOID:12377"}
xref: ICD9:335.1 {source="DOID:12377"}
xref: ICD9:335.10 {source="MONDO:equivalentTo", source="i2s", source="DOID:12377"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009134 {source="MONDO:equivalentTo", source="DOID:12377"}
xref: NCIT:C85075 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:12377"}
xref: SCTID:5262007 {source="MONDO:equivalentTo", source="DOID:12377", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026847 {source="MONDO:equivalentTo", source="NCIT:C85075", source="DOID:12377"}
is_a: MONDO:0003182 {source="https://en.wikipedia.org/wiki/Anterior_horn_disease"} ! anterior horn disease
is_a: MONDO:0005336 {source="NCIT:C85075"} ! myopathy
is_a: MONDO:0020128 {source="DOID:12377", source="EFO:0008525", source="MESH:D009134"} ! motor neuron disease
property_value: closeMatch http://identifiers.org/snomedct/192885003
property_value: closeMatch http://identifiers.org/snomedct/192887006
property_value: exactMatch DOID:12377
property_value: exactMatch http://identifiers.org/mesh/D009134
property_value: exactMatch http://identifiers.org/snomedct/5262007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026847
property_value: exactMatch NCIT:C85075
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy xsd:anyURI {source="GARD:0007674"}

[Term]
id: MONDO:0001517
name: dysentery
def: "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." [MESH:D004403]
synonym: "diarrheal disease, infectious" EXACT [MESH:D004403]
synonym: "dysenteric diarrhea" RELATED []
synonym: "infectious diarrhea" EXACT [DOID:12384, ICD9CM_2006:009.2]
synonym: "infectious diarrheal disease" EXACT [MESH:D004403]
synonym: "infectious diarrheal diseases" EXACT [MESH:D004403]
xref: COHD:198337 {source="MONDO:equivalentTo"}
xref: DOID:12384 {source="MONDO:equivalentTo"}
xref: EFO:1001869 {source="MONDO:equivalentTo"}
xref: ICD9:009.2 {source="DOID:12384"}
xref: MESH:D004403 {source="MONDO:equivalentTo", source="DOID:12384", source="MONDO:ontobio"}
xref: SCTID:111939009 {source="MONDO:equivalentTo", source="DOID:12384"}
xref: UMLS:C0013369 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:12384"}
is_a: MONDO:0000916 {source="DOID:12384", source="linkedlifedata"} ! intestinal infectious disease
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/154268000
property_value: closeMatch http://identifiers.org/snomedct/154279005
property_value: closeMatch http://identifiers.org/snomedct/186165000
property_value: closeMatch http://identifiers.org/snomedct/186167008
property_value: closeMatch http://identifiers.org/snomedct/236076004
property_value: closeMatch http://identifiers.org/snomedct/266173000
property_value: closeMatch http://identifiers.org/snomedct/266180003
property_value: exactMatch DOID:12384
property_value: exactMatch http://identifiers.org/mesh/D004403
property_value: exactMatch http://identifiers.org/snomedct/111939009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013369

[Term]
id: MONDO:0001518
name: spastic entropion
xref: COHD:375272 {source="MONDO:equivalentTo"}
xref: DOID:12395 {source="MONDO:equivalentTo"}
xref: ICD9:374.03 {source="MONDO:equivalentTo", source="DOID:12395", source="i2s"}
xref: SCTID:20828000 {source="MONDO:equivalentTo", source="DOID:12395", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155190 {source="MONDO:equivalentTo", source="DOID:12395"}
is_a: MONDO:0001519 {source="DOID:12395", source="linkedlifedata"} ! entropion (disease)
property_value: exactMatch DOID:12395
property_value: exactMatch http://identifiers.org/snomedct/20828000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155190

[Term]
id: MONDO:0001519
name: entropion (disease)
def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [MESH:D004774]
synonym: "entropion" EXACT [MONDO:ambiguous]
xref: COHD:379020 {source="MONDO:equivalentTo"}
xref: DOID:12397 {source="MONDO:equivalentTo"}
xref: HP:0000621 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:374.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:12397"}
xref: MESH:D004774 {source="MONDO:equivalentTo", source="DOID:12397", source="MONDO:ontobio"}
xref: SCTID:33168009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12397"}
xref: UMLS:C0014390 {source="MONDO:equivalentTo", source="DOID:12397"}
is_a: MONDO:0003382 {source="DOID:12397", source="MESH:D004774", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eyelid disease
property_value: closeMatch http://identifiers.org/snomedct/155177005
property_value: closeMatch http://identifiers.org/snomedct/193928005
property_value: closeMatch http://identifiers.org/snomedct/246821008
property_value: exactMatch DOID:12397
property_value: exactMatch http://identifiers.org/mesh/D004774
property_value: exactMatch http://identifiers.org/snomedct/33168009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014390

[Term]
id: MONDO:0001520
name: kleptomania
def: "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." [NCIT:C94333]
synonym: "kleptomania" EXACT [NCIT:C94333]
synonym: "pathological stealing" EXACT [DOID:12400]
xref: COHD:434632 {source="MONDO:equivalentTo"}
xref: DOID:12400 {source="MONDO:equivalentTo"}
xref: ICD10:F63.2 {source="MONDO:equivalentTo", source="DOID:12400"}
xref: ICD9:312.32 {source="MONDO:equivalentTo", source="i2s", source="DOID:12400"}
xref: NCIT:C94333 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12400"}
xref: SCTID:69361009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12400"}
is_a: MONDO:0001162 {source="DOID:12400", source="NCIT:C94333", source="linkedlifedata"} ! impulse control disorder
property_value: closeMatch http://identifiers.org/mesh/D007174
property_value: closeMatch http://identifiers.org/snomedct/154947009
property_value: closeMatch http://identifiers.org/snomedct/192503001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022734
property_value: exactMatch DOID:12400
property_value: exactMatch http://identifiers.org/snomedct/69361009
property_value: exactMatch NCIT:C94333

[Term]
id: MONDO:0001521
name: intermittent explosive disorder
def: "A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use." [NCIT:P378]
synonym: "explosive personality disorder" EXACT [DOID:12401]
xref: COHD:440989 {source="MONDO:equivalentTo"}
xref: DOID:12401 {source="MONDO:equivalentTo"}
xref: ICD10:F60.3 {source="DOID:12401"}
xref: ICD10:F63.81 {source="MONDO:equivalentTo", source="DOID:12401"}
xref: ICD9:301.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12401"}
xref: ICD9:312.34 {source="DOID:12401"}
xref: NCIT:C94332 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:12401"}
xref: SCTID:231527003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12401"}
is_a: MONDO:0001162 {source="DOID:12401", source="NCIT:C94332"} ! impulse control disorder
property_value: closeMatch http://identifiers.org/mesh/D007174
property_value: closeMatch http://identifiers.org/snomedct/191759005
property_value: closeMatch http://identifiers.org/snomedct/192096007
property_value: closeMatch http://identifiers.org/snomedct/192488005
property_value: closeMatch http://identifiers.org/snomedct/268757006
property_value: closeMatch http://identifiers.org/snomedct/40987004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021776
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152183
property_value: exactMatch DOID:12401
property_value: exactMatch http://identifiers.org/snomedct/231527003
property_value: exactMatch NCIT:C94332

[Term]
id: MONDO:0001522
name: pyromania
def: "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." [NCIT:P378]
synonym: "firesetting behavior" EXACT [DOID:12402]
synonym: "pathological firesetting" EXACT [DOID:12402]
xref: DOID:12402 {source="MONDO:equivalentTo"}
xref: ICD10:F63.1 {source="DOID:12402", source="MONDO:equivalentTo"}
xref: ICD9:312.33 {source="DOID:12402", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005391 {source="DOID:12402", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94334 {source="DOID:12402", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:600009 {source="DOID:12402", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
is_a: MONDO:0001162 {source="DOID:12402", source="NCIT:C94334", source="linkedlifedata"} ! impulse control disorder
property_value: closeMatch http://identifiers.org/snomedct/192502006
property_value: closeMatch http://identifiers.org/snomedct/248015004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016142
property_value: exactMatch DOID:12402
property_value: exactMatch http://identifiers.org/mesh/D005391
property_value: exactMatch http://identifiers.org/snomedct/600009
property_value: exactMatch NCIT:C94334

[Term]
id: MONDO:0001523
name: luxation of globe
synonym: "luxation of eye" EXACT [DOID:1241]
xref: DOID:1241 {source="MONDO:equivalentTo"}
xref: ICD10:H44.82 {source="DOID:1241"}
xref: ICD9:360.81 {source="DOID:1241", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:20842008 {source="DOID:1241", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154806 {source="DOID:1241", source="MONDO:equivalentTo"}
is_a: MONDO:0001524 {source="DOID:1241"} ! globe disease
property_value: exactMatch DOID:1241
property_value: exactMatch http://identifiers.org/snomedct/20842008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154806

[Term]
id: MONDO:0001524
name: globe disease
comment: Editor note: Consider merging with parent
xref: DOID:1242 {source="MONDO:equivalentTo"}
xref: ICD10:H44.39 {source="DOID:1242"}
xref: ICD9:360.29 {source="DOID:1242"}
is_a: MONDO:0005328 {source="DOID:1242"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/194638007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154780
property_value: exactMatch DOID:1242

[Term]
id: MONDO:0001525
name: thyrocalcitonin secretion disease
synonym: "disorder of thyrocalcitonin secretion" EXACT [DOID:12424, ICD9CM_2006:246.0]
xref: COHD:140364 {source="MONDO:equivalentTo"}
xref: DOID:12424 {source="MONDO:equivalentTo"}
xref: ICD9:246.0 {source="DOID:12424", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:190303007 {source="DOID:12424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0701822 {source="DOID:12424", source="MONDO:equivalentTo"}
is_a: MONDO:0003240 {source="DOID:12424", source="linkedlifedata"} ! thyroid gland disease
property_value: exactMatch DOID:12424
property_value: exactMatch http://identifiers.org/snomedct/190303007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701822

[Term]
id: MONDO:0001526
name: labia minora cancer
def: "A malignant neoplasm that affects the labia minora." [NCIT:C7637]
synonym: "cancer of labium minora" EXACT [MONDO:patterns/cancer]
synonym: "labium minora cancer" EXACT [MONDO:patterns/location]
synonym: "malignant labia minora neoplasm" EXACT [NCIT:C7637]
synonym: "malignant labia minora tumor" EXACT [NCIT:C7637]
synonym: "malignant labium minora neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labia minora" EXACT [DOID:1243, ICD9CM_2006:184.2, NCIT:C7637]
synonym: "malignant neoplasm of labium minora" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labium minus" EXACT [DOID:1243, MTH:U001388]
synonym: "malignant neoplasm of the labia minora" EXACT [NCIT:C7637]
synonym: "malignant tumor of labia minora" EXACT [DOID:1243, NCIT:C7637]
synonym: "malignant tumor of the labia minora" EXACT [NCIT:C7637]
xref: DOID:1243 {source="MONDO:equivalentTo"}
xref: ICD10:C51.1 {source="DOID:1243", source="MONDO:equivalentTo"}
xref: ICD9:184.2 {source="DOID:1243", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7637 {source="DOID:1243", source="MONDO:equivalentTo"}
xref: SCTID:363447008 {source="DOID:1243", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0496815 {source="DOID:1243", source="MONDO:equivalentTo", source="NCIT:C7637"}
is_a: MONDO:0001528 {source="DOID:1243", source="MONDO:Redundant", source="NCIT:C7637", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0002898 ! skin cancer
property_value: closeMatch http://identifiers.org/snomedct/93851005
property_value: exactMatch DOID:1243
property_value: exactMatch http://identifiers.org/snomedct/363447008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496815
property_value: exactMatch NCIT:C7637

[Term]
id: MONDO:0001527
name: conjugate gaze palsy
synonym: "palsy of conjugate gaze" EXACT [DOID:12445, ICD9CM_2006:378.81]
xref: COHD:377566 {source="MONDO:equivalentTo"}
xref: DOID:12445 {source="MONDO:equivalentTo"}
xref: ICD9:378.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:12445"}
xref: SCTID:1534008 {source="MONDO:equivalentTo", source="DOID:12445", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0702143 {source="MONDO:equivalentTo", source="DOID:12445"}
is_a: MONDO:0003432 {source="DOID:12445"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/193169002
property_value: closeMatch http://identifiers.org/snomedct/194130001
property_value: exactMatch DOID:12445
property_value: exactMatch http://identifiers.org/snomedct/1534008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0702143

[Term]
id: MONDO:0001528
name: vulva cancer
def: "A primary or metastatic malignant neoplasm involving the vulva." [NCIT:C7502]
synonym: "Ca vulva" EXACT [DOID:1245]
synonym: "cancer of mammalian vulva" EXACT [MONDO:patterns/cancer]
synonym: "malignant mammalian vulva neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of mammalian vulva" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the vulva" EXACT [NCIT:C7502]
synonym: "malignant neoplasm of vulva" EXACT [NCIT:C7502]
synonym: "malignant neoplasm of vulva unspecified" EXACT [DOID:1245]
synonym: "malignant neoplasm of vulva, NOS" RELATED EXCLUDE [DOID:1245]
synonym: "malignant neoplasm of vulva, unspecified" EXACT [DOID:1245, ICD9CM_2006:184.4]
synonym: "malignant tumor of the vulva" EXACT [NCIT:C7502]
synonym: "malignant tumor of vulva" EXACT [NCIT:C7502]
synonym: "malignant vulva neoplasm" EXACT [NCIT:C7502]
synonym: "malignant vulva tumor" EXACT [NCIT:C7502]
synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502]
synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502]
synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location]
synonym: "neoplasm of vulva" EXACT [DOID:1245]
synonym: "vulval cancer" EXACT [CSP2005:2016-2183, DOID:1245]
synonym: "vulval neoplasm" EXACT [DOID:1245]
synonym: "vulvar cancer" EXACT [MONDO:patterns/location]
synonym: "vulvar neoplasm" EXACT EXCLUDE [DOID:1245]
synonym: "vulvar tumor" EXACT EXCLUDE [DOID:1245]
xref: DOID:1245 {source="MONDO:equivalentTo"}
xref: GARD:0009349 {source="MONDO:equivalentTo"}
xref: ICD10:C51 {source="DOID:1245"}
xref: ICD10:C51.9 {source="DOID:1245"}
xref: ICD9:184.4 {source="DOID:1245", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014846 {source="DOID:1245", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7502 {source="DOID:1245", source="MONDO:equivalentTo"}
xref: SCTID:363367000 {source="DOID:1245", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/9.67"}
is_a: MONDO:0001416 {source="DOID:1245", source="MONDO:Redundant", source="NCIT:C7502"} ! female reproductive organ cancer
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C7502", source="linkedlifedata"} ! vulvar neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154535008
property_value: closeMatch http://identifiers.org/snomedct/188214009
property_value: closeMatch http://identifiers.org/snomedct/269471005
property_value: closeMatch http://identifiers.org/snomedct/269604005
property_value: closeMatch http://identifiers.org/snomedct/94143002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042995
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375071
property_value: exactMatch DOID:1245
property_value: exactMatch http://identifiers.org/mesh/D014846
property_value: exactMatch http://identifiers.org/snomedct/363367000
property_value: exactMatch NCIT:C7502

[Term]
id: MONDO:0001529
name: pancytopenia
def: "A finding of low numbers of red and white blood cells and platelets in the peripheral blood." [NCIT:C34889]
xref: COHD:432881 {source="MONDO:equivalentTo"}
xref: DOID:12450 {source="MONDO:equivalentTo"}
xref: ICD10:D61.81 {source="DOID:12450"}
xref: ICD9:284.1 {source="MONDO:equivalentTo", source="DOID:12450", source="i2s"}
xref: ICD9:284.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010198 {source="MONDO:equivalentTo", source="DOID:12450", source="MONDO:ontobio"}
xref: NCIT:C34889 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:12450", source="exact-label-match"}
xref: SCTID:127034005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12450"}
xref: UMLS:C0030312 {source="MONDO:equivalentTo", source="DOID:12450"}
is_a: MONDO:0002280 {source="DOID:12450", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/191250008
property_value: closeMatch http://identifiers.org/snomedct/267528007
property_value: closeMatch NCIT:C80693
property_value: exactMatch DOID:12450
property_value: exactMatch http://identifiers.org/mesh/D010198
property_value: exactMatch http://identifiers.org/snomedct/127034005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030312
property_value: exactMatch NCIT:C34889

[Term]
id: MONDO:0001530
name: secondary hyperparathyroidism of renal origin
synonym: "hyperparathyroidism due to renal insufficiency" EXACT [DOID:12465]
synonym: "secondary hyperparathyroidism" EXACT EXCLUDE [DOID:12465]
synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM_2006:588.81]
xref: COHD:133810 {source="MONDO:equivalentTo"}
xref: DOID:12465 {source="MONDO:equivalentTo"}
xref: ICD10:N25.81 {source="MONDO:equivalentTo", source="DOID:12465"}
xref: ICD9:588.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:12465"}
xref: SCTID:19034001 {source="MONDO:equivalentTo", source="DOID:12465", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271847 {source="MONDO:equivalentTo", source="DOID:12465"}
is_a: MONDO:0001343 {source="DOID:12465", source="ICD10:N25.81", source="ICD10:N25.81/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! impaired renal function disease
is_a: MONDO:0006964 {source="DOID:12465", source="MONDO:Redundant", source="MONDOLEX:0001530", source="linkedlifedata"} ! secondary hyperparathyroidism (disease)
disjoint_from: MONDO:0001750 ! non-renal secondary hyperparathyroidism
property_value: closeMatch http://identifiers.org/snomedct/31298003
property_value: exactMatch DOID:12465
property_value: exactMatch http://identifiers.org/snomedct/19034001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271847

[Term]
id: MONDO:0001531
name: blood coagulation disease
def: "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." [NCIT:C2902]
synonym: "blood coagulation disorder" EXACT [MESH:D001778]
synonym: "coagulation defect" EXACT [NCIT:C2902]
synonym: "coagulation disorder" EXACT [NCIT:C2902]
synonym: "coagulation disorder, blood" EXACT [MESH:D001778]
synonym: "coagulation disorders, blood" EXACT [MESH:D001778]
synonym: "coagulopathy" EXACT [https://en.wikipedia.org/wiki/Coagulopathy, NCIT:C2902]
synonym: "disorder, blood coagulation" EXACT [MESH:D001778]
synonym: "disorders, blood coagulation" EXACT [MESH:D001778]
synonym: "postpartum coagulation defect" EXACT [DOID:1247]
synonym: "postpartum coagulation defect with delivery" EXACT [DOID:1247]
xref: COHD:432585 {source="MONDO:equivalentTo"}
xref: DOID:1247 {source="MONDO:equivalentTo"}
xref: ICD10:D68.9 {source="DOID:1247"}
xref: ICD9:286 {source="DOID:1247"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:287.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001778 {source="DOID:1247", source="MONDO:equivalentTo"}
xref: NCIT:C2902 {source="DOID:1247", source="MONDO:equivalentTo"}
xref: SCTID:64779008 {source="DOID:1247", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="DOID:1247", source="MESH:D001778", source="NCIT:C2902/inferred"} ! hematologic disease
property_value: closeMatch http://identifiers.org/snomedct/127073005
property_value: closeMatch http://identifiers.org/snomedct/154815003
property_value: closeMatch http://identifiers.org/snomedct/191303002
property_value: closeMatch http://identifiers.org/snomedct/267562007
property_value: closeMatch http://identifiers.org/snomedct/362970003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005779
property_value: exactMatch DOID:1247
property_value: exactMatch http://identifiers.org/mesh/D001778
property_value: exactMatch http://identifiers.org/snomedct/64779008
property_value: exactMatch NCIT:C2902

[Term]
id: MONDO:0001532
name: capillariasis
def: "A infectious disease involving the Capillaria." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Capillaria infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Capillaria" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:12474 {source="MONDO:equivalentTo"}
xref: ICD10:B81.1 {source="DOID:12474"}
xref: ICD9:127.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:12474"}
xref: SCTID:52979002 {source="MONDO:equivalentTo", source="DOID:12474", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0006897 {source="MONDO:equivalentTo", source="DOID:12474"}
is_a: MONDO:0005745 ! Enoplea infectious disease
property_value: exactMatch DOID:12474
property_value: exactMatch http://identifiers.org/snomedct/52979002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006897

[Term]
id: MONDO:0001533
name: pes anserinus tendinitis or bursitis
xref: DOID:12475 {source="MONDO:equivalentTo"}
xref: ICD9:726.61 {source="DOID:12475"}
is_a: MONDO:0002183 {source="DOID:12475"} ! enthesopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158314
property_value: exactMatch DOID:12475

[Term]
id: MONDO:0001534
name: ocular hyperemia
synonym: "hyperemia eye" EXACT [DOID:1248, MTH:NOCODE]
synonym: "hyperemia of conjunctiva" EXACT [DOID:1248, ICD9CM_2006:372.71]
xref: DOID:1248 {source="MONDO:equivalentTo"}
xref: SCTID:359610006 {source="MONDO:equivalentTo", source="DOID:1248", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155169 {source="MONDO:equivalentTo", source="DOID:1248"}
is_a: MONDO:0006170 {source="DOID:1248"} ! conjunctival disorder
property_value: closeMatch http://identifiers.org/snomedct/76849009
property_value: exactMatch DOID:1248
property_value: exactMatch http://identifiers.org/snomedct/359610006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155169

[Term]
id: MONDO:0001535
name: vagus nerve disease
def: "A disease involving the vagus nerve." [MONDO:DesignPattern]
synonym: "disease of vagus nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vagus nerve" EXACT []
synonym: "disorder of pneumogastric [10th] nerve" EXACT [DOID:12491, ICD9CM_2006:352.3]
synonym: "disorder of vagal nerve" EXACT [DOID:12491, MTHICD9_2006:352.3]
synonym: "disorder of vagus nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vagus nerve" RELATED [MONDO:patterns/location_top]
synonym: "vagus nerve disease" EXACT [MONDO:patterns/location]
synonym: "vagus nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Vagus nerve disorder" EXACT [DOID:12491, NCIT:C27591]
xref: COHD:432307 {source="MONDO:equivalentTo"}
xref: DOID:12491 {source="MONDO:equivalentTo"}
xref: ICD10:G52.2 {source="DOID:12491"}
xref: ICD9:352.3 {source="MONDO:equivalentTo", source="DOID:12491", source="i2s"}
xref: MESH:D020421 {source="MONDO:equivalentTo", source="DOID:12491", source="MONDO:ontobio"}
xref: NCIT:C27591 {source="MONDO:equivalentTo", source="DOID:12491", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:73765005 {source="MONDO:equivalentTo", source="DOID:12491", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152179 {source="MONDO:equivalentTo", source="DOID:12491", source="NCIT:C27591"}
is_a: MONDO:0002639 {source="DOID:12491"} ! glossopharyngeal nerve disease
property_value: exactMatch DOID:12491
property_value: exactMatch http://identifiers.org/mesh/D020421
property_value: exactMatch http://identifiers.org/snomedct/73765005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152179
property_value: exactMatch NCIT:C27591

[Term]
id: MONDO:0001536
name: vaginal leiomyoma
def: "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6373]
synonym: "leiomyoma of the vagina" EXACT [NCIT:C6373]
synonym: "leiomyoma of vagina" EXACT [DOID:125, NCIT:C6373]
synonym: "vagina leiomyoma" EXACT [MONDO:patterns/location]
synonym: "vaginal leiomyoma" EXACT [NCIT:C6373]
xref: DOID:125 {source="MONDO:equivalentTo"}
xref: NCIT:C6373 {source="MONDO:equivalentTo", source="DOID:125"}
xref: UMLS:C1336939 {source="NCIT:C6373", source="MONDO:equivalentTo", source="DOID:125"}
is_a: MONDO:0000647 {source="DOID:125", source="MONDO:Redundant", source="NCIT:C6373"} ! benign vaginal neoplasm
is_a: MONDO:0001572 {source="DOID:125", source="MONDO:Redundant", source="NCIT:C6373"} ! leiomyoma
property_value: exactMatch DOID:125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336939
property_value: exactMatch NCIT:C6373

[Term]
id: MONDO:0001537
name: tuberculous epididymitis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: DOID:1251 {source="MONDO:equivalentTo"}
xref: ICD9:016.4 {source="DOID:1251"}
xref: ICD9:016.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:016.41 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:016.42 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:016.46 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:83652003 {source="DOID:1251", source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
xref: UMLS:C0152814 {source="DOID:1251", source="MONDO:equivalentTo"}
is_a: MONDO:0004779 {source="MONDO:Redundant", source="MONDOLEX:0001537", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! epididymitis (disease)
is_a: MONDO:0006845 ! male genital tuberculosis
property_value: exactMatch DOID:1251
property_value: exactMatch http://identifiers.org/snomedct/83652003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152814

[Term]
id: MONDO:0001538
name: retinal ischemia
def: "A ischemic disease that involves the retina." [MONDO:patterns/location]
synonym: "ischemic disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina ischemic disease" EXACT [MONDO:patterns/location]
xref: COHD:378142 {source="MONDO:equivalentTo"}
xref: DOID:12510 {source="MONDO:equivalentTo"}
xref: ICD10:H35.82 {source="MONDO:equivalentTo", source="DOID:12510"}
xref: ICD9:362.84 {source="MONDO:equivalentTo", source="i2s", source="DOID:12510"}
xref: SCTID:26468004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12510"}
xref: UMLS:C0162291 {source="MONDO:equivalentTo", source="DOID:12510"}
is_a: MONDO:0005053 ! ischemic disease
is_a: MONDO:0005283 {source="DOID:12510", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/193427006
property_value: exactMatch DOID:12510
property_value: exactMatch http://identifiers.org/snomedct/26468004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162291

[Term]
id: MONDO:0001539
name: retinal perforation
def: "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." [NCIT:P378]
synonym: "retinal break" EXACT [DOID:12514]
synonym: "retinal dialysis" EXACT [DOID:12514]
synonym: "retinal tear" EXACT [DOID:12514]
xref: DOID:12514 {source="MONDO:equivalentTo"}
xref: MESH:D012167 {source="DOID:12514", source="MONDO:equivalentTo"}
xref: SCTID:232003005 {source="DOID:12514", source="MONDO:kboom-pr-0.90/0.76/0.43", source="MONDO:equivalentTo"}
xref: UMLS:C0035321 {source="DOID:12514", source="MONDO:equivalentTo"}
is_a: MONDO:0008375 {source="DOID:12514"} ! retinal detachment
property_value: closeMatch http://identifiers.org/snomedct/155104004
property_value: closeMatch http://identifiers.org/snomedct/193317004
property_value: closeMatch http://identifiers.org/snomedct/193343003
property_value: closeMatch http://identifiers.org/snomedct/302888003
property_value: closeMatch http://identifiers.org/snomedct/40024006
property_value: closeMatch http://identifiers.org/snomedct/95690009
property_value: exactMatch DOID:12514
property_value: exactMatch http://identifiers.org/mesh/D012167
property_value: exactMatch http://identifiers.org/snomedct/232003005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035321
property_value: exactMatch NCIT:C50732

[Term]
id: MONDO:0001540
name: bagassosis
def: "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:P378]
synonym: "bagasse extrinsic allergic alveolitis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "extrinsic allergic alveolitis from bagasse" EXACT []
synonym: "sugar cane worker pneumonitis" EXACT [CSP2005:2596-6673, DOID:12522]
xref: DOID:12522 {source="MONDO:equivalentTo"}
xref: ICD10:J67.1 {source="MONDO:equivalentTo", source="DOID:12522"}
xref: ICD9:495.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12522"}
xref: NCIT:C34409 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:12522"}
xref: SCTID:67242002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12522"}
xref: UMLS:C0004681 {source="NCIT:C34409", source="MONDO:equivalentTo", source="DOID:12522"}
is_a: MONDO:0004553 {source="DOID:12522", source="MONDO:Redundant", source="MONDOLEX:0001540", source="NCIT:C34409"} ! extrinsic allergic alveolitis
property_value: exactMatch DOID:12522
property_value: exactMatch http://identifiers.org/snomedct/67242002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004681
property_value: exactMatch NCIT:C34409

[Term]
id: MONDO:0001541
name: plantar nerve lesion
def: "A peripheral nerve lesion that involves the plantar nerve." [MONDO:patterns/location]
synonym: "lesion of plantar nerve" EXACT [DOID:12524, ICD9CM_2006:355.6]
synonym: "lesion of plantar nerve, NOS" RELATED EXCLUDE [DOID:12524]
synonym: "peripheral nerve lesion of plantar nerve" EXACT []
synonym: "plantar nerve peripheral nerve lesion" EXACT [MONDO:patterns/location]
xref: COHD:138148 {source="MONDO:equivalentTo"}
xref: DOID:12524 {source="MONDO:equivalentTo"}
xref: ICD10:G57.6 {source="DOID:12524"}
xref: ICD10:G57.60 {source="DOID:12524"}
xref: ICD9:355.6 {source="DOID:12524", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193148004 {source="DOID:12524", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154752 {source="DOID:12524", source="MONDO:equivalentTo"}
is_a: MONDO:0001543 ! lesion of sciatic nerve
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12524"} ! mononeuritis of lower limb
property_value: closeMatch http://identifiers.org/snomedct/193151006
property_value: closeMatch http://identifiers.org/snomedct/60525009
property_value: exactMatch DOID:12524
property_value: exactMatch http://identifiers.org/snomedct/193148004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154752

[Term]
id: MONDO:0001542
name: common peroneal nerve lesion
def: "A peripheral nerve lesion that involves the common fibular nerve." [MONDO:patterns/location]
synonym: "common fibular nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nerve lesion of common fibular nerve" EXACT [MONDO:design_pattern]
xref: COHD:437262 {source="MONDO:equivalentTo"}
xref: DOID:12527 {source="MONDO:equivalentTo"}
xref: ICD10:G57.3 {source="DOID:12527"}
xref: ICD10:G57.30 {source="DOID:12527"}
xref: ICD9:355.3 {source="DOID:12527", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:399107008 {source="DOID:12527", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270909 {source="DOID:12527", source="MONDO:equivalentTo"}
is_a: MONDO:0001543 ! lesion of sciatic nerve
is_a: MONDO:0004797 {source="DOID:12527"} ! mononeuritis of lower limb
property_value: closeMatch http://identifiers.org/snomedct/16006009
property_value: closeMatch http://identifiers.org/snomedct/55740007
property_value: exactMatch DOID:12527
property_value: exactMatch http://identifiers.org/snomedct/399107008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270909

[Term]
id: MONDO:0001543
name: lesion of sciatic nerve
def: "A peripheral nerve lesion that involves the sciatic nerve." [MONDO:patterns/location]
synonym: "peripheral nerve lesion of sciatic nerve" EXACT [MONDO:design_pattern]
synonym: "sciatic nerve peripheral nerve lesion" EXACT [MONDO:patterns/location]
xref: COHD:372888 {source="MONDO:equivalentTo"}
xref: DOID:12528 {source="MONDO:equivalentTo"}
xref: ICD10:G57.0 {source="DOID:12528", source="MONDO:equivalentTo"}
xref: ICD10:G57.00 {source="DOID:12528"}
xref: ICD9:355.0 {source="DOID:12528", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:367137004 {source="DOID:12528", source="MONDO:equivalentTo"}
xref: UMLS:C0154748 {source="DOID:12528", source="MONDO:equivalentTo"}
is_a: MONDO:0001829 ! lumbosacral plexus lesion
is_a: MONDO:0006960 {source="linkedlifedata"} ! sciatic neuropathy
is_a: MONDO:0024334 ! peripheral nerve lesion
relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12528"} ! mononeuritis of lower limb
property_value: closeMatch http://identifiers.org/snomedct/193144002
property_value: exactMatch DOID:12528
property_value: exactMatch http://identifiers.org/snomedct/367137004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154748

[Term]
id: MONDO:0001544
name: tibial nerve palsy
comment: Editor note: todo
xref: DOID:12529 {source="MONDO:equivalentTo"}
xref: ICD9:355.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:365258000 {source="MONDO:equivalentTo", source="DOID:12529", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154751 {source="MONDO:equivalentTo", source="DOID:12529"}
is_a: MONDO:0004797 {source="DOID:12529"} ! mononeuritis of lower limb
property_value: closeMatch http://identifiers.org/snomedct/359842002
property_value: exactMatch DOID:12529
property_value: exactMatch http://identifiers.org/snomedct/365258000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154751

[Term]
id: MONDO:0001545
name: obsolete von willebrand disease
synonym: "obsolete von willebrand's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019565

[Term]
id: MONDO:0001546
name: hypermobility of coccyx
synonym: "coccygeal hypermobility syndrome" EXACT [DOID:12537]
synonym: "hypermobility of the coccyx" EXACT [DOID:12537]
xref: DOID:12537 {source="MONDO:equivalentTo"}
xref: ICD9:724.71 {source="DOID:12537", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:202809009 {source="DOID:12537", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0158295 {source="DOID:12537", source="MONDO:equivalentTo"}
is_a: MONDO:0005095 {source="DOID:12537"} ! spondyloarthropathy
property_value: closeMatch http://identifiers.org/snomedct/22903002
property_value: closeMatch http://identifiers.org/snomedct/247367007
property_value: exactMatch DOID:12537
property_value: exactMatch http://identifiers.org/snomedct/202809009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158295

[Term]
id: MONDO:0001547
name: atrophic nonflaccid tympanic membrane
xref: COHD:374050 {source="MONDO:equivalentTo"}
xref: DOID:12546 {source="MONDO:equivalentTo"}
xref: ICD10:H73.82 {source="DOID:12546"}
xref: ICD9:384.82 {source="DOID:12546", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:72052003 {source="DOID:12546", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155471 {source="DOID:12546", source="MONDO:equivalentTo"}
is_a: MONDO:0003648 {source="DOID:12546", source="linkedlifedata"} ! tympanic membrane disease
property_value: closeMatch http://identifiers.org/snomedct/194323000
property_value: exactMatch DOID:12546
property_value: exactMatch http://identifiers.org/snomedct/72052003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155471

[Term]
id: MONDO:0001548
name: hepatic coma
def: "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" [MESH:D006501]
synonym: "hepatocerebral intoxication" EXACT [DOID:12550, MTHICD9_2006:572.2]
xref: COHD:377604 {source="MONDO:equivalentTo"}
xref: DOID:12550 {source="MONDO:equivalentTo"}
xref: ICD10:K72.91 {source="DOID:12550"}
xref: ICD9:070.42 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:72836002 {source="MONDO:equivalentTo", source="DOID:12550", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019147 {source="MONDO:equivalentTo", source="DOID:12550"}
is_a: MONDO:0001711 {source="DOID:12550", source="linkedlifedata"} ! hepatic encephalopathy
property_value: closeMatch http://identifiers.org/snomedct/155820006
property_value: closeMatch http://identifiers.org/snomedct/197332007
property_value: exactMatch DOID:12550
property_value: exactMatch http://identifiers.org/snomedct/72836002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019147

[Term]
id: MONDO:0001549
name: hemolytic-uremic syndrome
def: "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." [NCIT:P378]
subset: ordo_group_of_disorders
synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588]
synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554]
synonym: "hemolytic uremic syndrome" EXACT [CSP2005:0427-1005, DOID:12554]
synonym: "HUS" EXACT [NCIT:C75545]
xref: COHD:197253 {source="MONDO:equivalentTo"}
xref: DOID:12554 {source="MONDO:equivalentTo"}
xref: GARD:0006588 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D59.3 {source="MONDO:equivalentTo", source="DOID:12554"}
xref: ICD9:283.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:12554"}
xref: MESH:D006463 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12554"}
xref: NCIT:C75545 {source="MONDO:kboom-pr-0.88/0.75/0.11", source="MONDO:equivalentTo", source="DOID:12554"}
xref: OMIMPS:235400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:544458 {source="MONDO:equivalentTo"}
xref: SCTID:111407006 {source="MONDO:equivalentTo", source="DOID:12554", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0019061 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:12554", source="NCIT:C75545"}
is_a: MONDO:0003664 {source="DOID:12554", source="ICD10:D59.3/inferred", source="MESH:D006463", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemolytic anemia
is_a: MONDO:0019737 {source="Orphanet:544458"} ! thrombotic microangiopathy
relationship: excluded_subClassOf MONDO:0015910 {source="Orphanet:544458"} ! obsolete rare constitutional hemolytic anemia
property_value: closeMatch http://identifiers.org/snomedct/123308008
property_value: exactMatch DOID:12554
property_value: exactMatch http://identifiers.org/mesh/D006463
property_value: exactMatch http://identifiers.org/snomedct/111407006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019061
property_value: exactMatch NCIT:C75545
property_value: exactMatch Orphanet:544458

[Term]
id: MONDO:0001550
name: obsolete Duane retraction syndrome
is_obsolete: true
replaced_by: MONDO:0007473

[Term]
id: MONDO:0001551
name: ulceration of vulva
synonym: "ulceration of vulva" EXACT []
synonym: "vulvar ulceration" RELATED []
xref: COHD:253815 {source="MONDO:equivalentTo"}
xref: DOID:12566 {source="MONDO:equivalentTo"}
xref: ICD10:N76.6 {source="MONDO:equivalentTo"}
xref: ICD10:N77.0 {source="DOID:12566"}
xref: ICD9:616.50 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:616.51 {source="DOID:12566"}
xref: SCTID:68640004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156339 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002187 {source="DOID:12566", source="linkedlifedata"} ! vulvar disease
property_value: closeMatch http://identifiers.org/snomedct/198230004
property_value: closeMatch http://identifiers.org/snomedct/86533009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156340
property_value: exactMatch DOID:12566
property_value: exactMatch http://identifiers.org/snomedct/68640004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156339

[Term]
id: MONDO:0001552
name: dyscalculia (disease)
def: "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." [NCIT:C97165]
synonym: "disorder of arithmetical skills" EXACT [DOID:12568]
synonym: "dyscalculia" EXACT [MONDO:ambiguous, NCIT:C97165]
synonym: "mathematics disorder" EXACT [DOID:12568, ICD9CM_2006:315.1]
xref: DOID:12568 {source="MONDO:equivalentTo"}
xref: HP:0002442 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:315.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D060705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97165 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:47916000 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
is_a: MONDO:0004681 {source="DOID:12568", source="MESH:D060705", source="NCIT:C97165", source="linkedlifedata"} ! learning disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0869474
property_value: exactMatch DOID:12568
property_value: exactMatch http://identifiers.org/mesh/D060705
property_value: exactMatch http://identifiers.org/snomedct/47916000
property_value: exactMatch NCIT:C97165

[Term]
id: MONDO:0001553
name: phacolytic glaucoma
def: "an abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma]
synonym: "endophthalmitis phacoanaphylactica" EXACT [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma]
xref: COHD:441556 {source="MONDO:equivalentTo"}
xref: DOID:12570 {source="MONDO:equivalentTo"}
xref: ICD9:365.51 {source="MONDO:equivalentTo", source="i2s", source="DOID:12570"}
xref: SCTID:32893002 {source="MONDO:equivalentTo", source="DOID:12570", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152137 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:12570"}
is_a: MONDO:0001554 {source="DOID:12570"} ! phacogenic glaucoma
is_a: MONDO:0007179 {source="MONDO:cjm"} ! autoimmune disease
property_value: exactMatch DOID:12570
property_value: exactMatch http://identifiers.org/snomedct/32893002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152137

[Term]
id: MONDO:0001554
name: phacogenic glaucoma
def: "secondary glaucoma caused by either excessive size or spheric shape of the lens." [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma]
synonym: "lens induced angle closure glaucoma" RELATED []
synonym: "lens swelling glaucoma" RELATED []
synonym: "phacomorphic glaucoma" EXACT [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma]
xref: COHD:434030 {source="MONDO:equivalentTo"}
xref: DOID:12571 {source="MONDO:equivalentTo"}
xref: ICD9:365.59 {source="MONDO:relatedTo", source="DOID:12571", source="i2s"}
xref: SCTID:392300000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0339590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:12571", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/84333006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154959
property_value: exactMatch DOID:12571
property_value: exactMatch http://identifiers.org/snomedct/392300000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339590

[Term]
id: MONDO:0001555
name: neonatal thyrotoxicosis
def: "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." [NCIT:P378]
synonym: "infantile hyperthyroidism" EXACT [NCIT:C114906]
xref: COHD:137099 {source="MONDO:equivalentTo"}
xref: DOID:12573 {source="MONDO:equivalentTo"}
xref: ICD10:P72.1 {source="DOID:12573"}
xref: ICD9:775.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12573"}
xref: NCIT:C114906 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12573"}
xref: SCTID:13795004 {source="MONDO:equivalentTo", source="DOID:12573", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158983 {source="NCIT:C114906", source="MONDO:equivalentTo", source="DOID:12573"}
is_a: MONDO:0010138 {source="DOID:12573", source="MONDOLEX:0001555", source="NCIT:C114906", source="linkedlifedata"} ! thyrotoxicosis
property_value: exactMatch DOID:12573
property_value: exactMatch http://identifiers.org/snomedct/13795004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158983
property_value: exactMatch NCIT:C114906

[Term]
id: MONDO:0001556
name: urethral obstruction (disease)
def: "Blockage of the normal flow of urine in the urethra." [NCIT:P378]
synonym: "obstruction of urethra" EXACT [DOID:12577]
synonym: "urethral obstruction" EXACT [MONDO:ambiguous]
xref: DOID:12577 {source="MONDO:equivalentTo"}
xref: HP:0000796 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:599.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014524 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12577"}
xref: SCTID:95588004 {source="MONDO:equivalentTo", source="DOID:12577", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0041972 {source="MONDO:equivalentTo", source="DOID:12577"}
is_a: MONDO:0004184 {source="DOID:12577", source="MESH:D014524", source="linkedlifedata"} ! urethral disease
property_value: exactMatch DOID:12577
property_value: exactMatch http://identifiers.org/mesh/D014524
property_value: exactMatch http://identifiers.org/snomedct/95588004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041972
property_value: exactMatch NCIT:C79804

[Term]
id: MONDO:0001557
name: olecranon bursitis
def: "A bursitis that involves the olecranon." [MONDO:patterns/location]
synonym: "bursitis of elbow" EXACT [DOID:12581, MTHICD9_2006:726.33]
synonym: "bursitis of elbow region" EXACT [DOID:12581]
synonym: "bursitis of olecranon" EXACT [MONDO:design_pattern]
synonym: "capped elbow" EXACT [DOID:12581]
synonym: "elbow bursitis" EXACT [DOID:12581]
synonym: "elbow bursitis (& olecranon)" EXACT [DOID:12581]
synonym: "miner's elbow" EXACT [DOID:12581]
synonym: "Miners' elbow" EXACT [DOID:12581, MTHICD9_2006:727.2]
synonym: "olecranon bursitis" EXACT [MONDO:patterns/location]
synonym: "shoe boil" EXACT [DOID:12581]
xref: COHD:134452 {source="MONDO:equivalentTo"}
xref: DOID:12581 {source="MONDO:equivalentTo"}
xref: ICD10:M70.2 {source="MONDO:equivalentTo", source="DOID:12581"}
xref: ICD9:726.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:12581"}
xref: SCTID:425940002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.29", source="DOID:12581"}
xref: UMLS:C0263962 {source="MONDO:equivalentTo", source="DOID:12581"}
xref: UMLS:C3887895 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002183 {source="DOID:12581"} ! enthesopathy
is_a: MONDO:0002471 {source="https://orcid.org/0000-0002-0736-9199"} ! bursitis
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156680002
property_value: closeMatch http://identifiers.org/snomedct/202930004
property_value: closeMatch http://identifiers.org/snomedct/270542002
property_value: closeMatch http://identifiers.org/snomedct/424548006
property_value: closeMatch http://identifiers.org/snomedct/63517006
property_value: closeMatch http://identifiers.org/snomedct/74859007
property_value: closeMatch http://identifiers.org/snomedct/77299006
property_value: exactMatch DOID:12581
property_value: exactMatch http://identifiers.org/snomedct/425940002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887895

[Term]
id: MONDO:0001558
name: Potter sequence
def: "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." [NCIT:P378]
comment: Editor note: check for subtypes, relationship to OMIM:263200
subset: gard_rare
synonym: "oligohydramnios sequence" EXACT [GARD:0004462, NCIT:C40435]
synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462]
synonym: "Potter's sequence" EXACT [NCIT:C40435]
synonym: "Potter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:12594 {source="MONDO:equivalentTo"}
xref: GARD:0004462 {source="MONDO:equivalentTo"}
xref: ICD10:Q60.6 {source="MONDO:equivalentTo", source="DOID:12594"}
xref: NCIT:C40435 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12594"}
xref: SCTID:41962002 {source="MONDO:equivalentTo", source="DOID:12594", source="MONDO:kboom-pr-0.99/0.73/5.34"}
xref: UMLS:C0178426 {source="MONDO:equivalentTo", source="DOID:12594"}
is_a: MONDO:0002254 {source="MONDOLEX:0001558", source="NCIT:C40435"} ! syndromic disease
is_a: MONDO:0005881 {source="DOID:12594", source="linkedlifedata"} ! oligohydramnios (disease)
disjoint_from: MONDO:0015986 {source="DOID:0080200"} ! bilateral renal agenesis
property_value: closeMatch http://identifiers.org/snomedct/204947004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1609433
property_value: exactMatch DOID:12594
property_value: exactMatch http://identifiers.org/snomedct/41962002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178426
property_value: exactMatch NCIT:C40435

[Term]
id: MONDO:0001559
name: perineocele
xref: DOID:12637 {source="MONDO:equivalentTo"}
xref: ICD10:N81.81 {source="DOID:12637", source="MONDO:equivalentTo"}
xref: ICD9:618.05 {source="DOID:12637"}
is_a: MONDO:0001592 {source="DOID:12637", source="ICD10:N81.81", source="ICD10:N81.81/inferred"} ! prolapse of female genital organ
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456251
property_value: exactMatch DOID:12637

[Term]
id: MONDO:0001560
name: hypertrophic pyloric stenosis
def: "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." [NCIT:P378]
synonym: "congenital constriction of the pylorus" EXACT [NCIT:C98952]
synonym: "congenital hypertrophic pyloric stenosis" EXACT [DOID:12638]
synonym: "congenital Hypertrophy of the pylorus" EXACT [NCIT:C98952]
synonym: "congenital or infantile stricture of pylorus" EXACT [DOID:12638, MTHICD9_2006:750.5]
synonym: "congenital pyloric stenosis" EXACT [NCIT:C98952]
synonym: "congenital stricture of the pylorus" EXACT [NCIT:C98952]
synonym: "IHPS" EXACT []
synonym: "infantile constriction of the pylorus" EXACT [NCIT:C98952]
synonym: "infantile hypertrophic pyloric stenosis" EXACT [MONDO:0005421]
synonym: "infantile Hypertrophy of the pylorus" EXACT [NCIT:C98952]
synonym: "infantile pyloric stenosis" EXACT [NCIT:C98952]
synonym: "infantile stricture of the pylorus" EXACT [NCIT:C98952]
synonym: "pyloric stenosis, infantile" EXACT [MONDO:0000092]
xref: COHD:192433 {source="MONDO:equivalentTo"}
xref: DC:0000381 {source="MONDO:equivalentTo"}
xref: DOID:12638 {source="MONDO:equivalentTo"}
xref: EFO:0004707 {source="MONDO:equivalentTo"}
xref: ICD10:Q40.0 {source="DOID:12638", source="MONDO:equivalentTo"}
xref: ICD9:750.5 {source="DOID:12638", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D046248 {source="DOID:12638", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98952 {source="DOID:12638", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.71/0.39"}
xref: OMIMPS:179010 {source="DC:0000381", source="MONDO:equivalentTo"}
xref: SCTID:48644003 {source="DOID:12638", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0001561 {source="DC:0000381", source="DOID:12638", source="DOID:12638/inferred", source="MESH:D046248", source="MESH:D046248/inferred", source="NCIT:C98952", source="linkedlifedata", source="linkedlifedata/inferred"} ! pyloric stenosis (disease)
is_a: MONDO:0005020 {source="EFO:0004707"} ! intestinal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700639
property_value: exactMatch DOID:12638
property_value: exactMatch http://identifiers.org/mesh/D046248
property_value: exactMatch http://identifiers.org/snomedct/48644003
property_value: exactMatch NCIT:C98952

[Term]
id: MONDO:0001561
name: pyloric stenosis (disease)
def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966]
synonym: "gastric outflow obstruction" EXACT [DOID:3122]
synonym: "gastric outlet obstruction" EXACT [MONDO:0006768, NCIT:C34966]
synonym: "GOO" EXACT [https://en.wikipedia.org/wiki/Gastric_outlet_obstruction]
synonym: "pyloric stenosis" EXACT [MONDO:ambiguous, NCIT:C34966]
xref: DOID:12639 {source="MONDO:equivalentTo"}
xref: DOID:3122 {source="EFO:1000947", source="MONDO:equivalentTo"}
xref: EFO:1000947 {source="MONDO:equivalentTo"}
xref: HP:0002021 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K31.1 {source="DOID:12639"}
xref: MedDRA:10062499 {source="EFO:1000947"}
xref: MESH:D011707 {source="MONDO:equivalentTo", source="DOID:12639", source="MONDO:ontobio"}
xref: MESH:D017219 {source="DOID:3122", source="EFO:1000947", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34966 {source="MONDO:kboom-pr-0.88/0.75/0.14", source="MONDO:equivalentTo", source="DOID:12639"}
xref: SCTID:367403001 {source="MONDO:kboom-pr-0.96/0.68/2.71", source="MONDO:equivalentTo", source="DOID:12639"}
is_a: MONDO:0004298 {source="DOID:12639/inferred", source="DOID:3122", source="MESH:D011707/inferred", source="MESH:D017219", source="NCIT:C34966/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! stomach disease
property_value: closeMatch http://identifiers.org/meddra/10062499
property_value: closeMatch http://identifiers.org/snomedct/196759006
property_value: closeMatch http://identifiers.org/snomedct/244815007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034194
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162651
property_value: exactMatch DOID:12639
property_value: exactMatch DOID:3122
property_value: exactMatch http://identifiers.org/mesh/D011707
property_value: exactMatch http://identifiers.org/mesh/D017219
property_value: exactMatch http://identifiers.org/snomedct/367403001
property_value: exactMatch NCIT:C34966

[Term]
id: MONDO:0001562
name: displacement of cardia through esophageal hiatus
synonym: "congenital hiatus hernia" EXACT [DOID:12641, ICD9CM_2006:750.6]
xref: COHD:198246 {source="MONDO:equivalentTo"}
xref: DOID:12641 {source="MONDO:equivalentTo"}
xref: ICD10:Q40.1 {source="MONDO:equivalentTo", source="DOID:12641"}
xref: ICD9:750.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:12641"}
xref: SCTID:47028006 {source="MONDO:equivalentTo", source="DOID:12641", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0007721 {source="DOID:12641", source="linkedlifedata"} ! hiatus hernia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158674
property_value: exactMatch DOID:12641
property_value: exactMatch http://identifiers.org/snomedct/47028006

[Term]
id: MONDO:0001563
name: vestibulocochlear nerve disease
def: "A disease involving the vestibulocochlear nerve." [MONDO:DesignPattern]
synonym: "acoustic nerve disease" EXACT [DOID:12657, ICD9CM_2006:388.5]
synonym: "acoustic nerve disorder" EXACT [NCIT:C27207]
synonym: "acoustic nerve disorder NOS" EXACT [NCIT:C27207]
synonym: "disease of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vestibulocochlear nerve" EXACT []
synonym: "disorder of acoustic nerve" EXACT []
synonym: "disorder of acoustovestibular nerve" RELATED []
synonym: "disorder of eighth nerve" RELATED []
synonym: "disorder of the vestibulocochlear nerve" RELATED []
synonym: "disorder of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vestibulocochlear nerve" RELATED [MONDO:patterns/location_top]
synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location]
synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vestibulocochlear nerve disorder" EXACT [NCIT:C27207]
xref: DOID:12657 {source="MONDO:equivalentTo"}
xref: ICD10:H93.3 {source="DOID:12657"}
xref: ICD10:H93.3X {source="DOID:12657"}
xref: ICD9:388.5 {source="DOID:12657", source="linkedlifedata"}
xref: MESH:D000160 {source="DOID:12657", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27207 {source="DOID:12657", source="MONDO:equivalentTo"}
xref: SCTID:77949003 {source="DOID:12657", source="MONDO:equivalentTo"}
xref: UMLS:C0001163 {source="DOID:12657", source="MONDO:equivalentTo"}
is_a: MONDO:0002453 {source="DOID:12657", source="MESH:D000160"} ! retrocochlear disease
is_a: MONDO:0003569 {source="DOID:12657", source="MESH:D000160", source="MONDO:Redundant", source="NCIT:C27207", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:12657/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/194402005
property_value: exactMatch DOID:12657
property_value: exactMatch http://identifiers.org/mesh/D000160
property_value: exactMatch http://identifiers.org/snomedct/77949003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001163
property_value: exactMatch NCIT:C27207

[Term]
id: MONDO:0001564
name: binocular vision disease
def: "Any inability to efficiently utilize and/or sustain binocular vision." [NCIT:P378]
synonym: "binocular vision disorder" EXACT [NCIT:C34422]
synonym: "simultaneous visual perception without fusion" NARROW [DOID:12667]
xref: DOID:12667 {source="MONDO:equivalentTo"}
xref: ICD10:H53.30 {source="DOID:12667"}
xref: ICD9:368.30 {source="DOID:12667", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34422 {source="DOID:12667", source="MONDO:equivalentTo"}
xref: SCTID:83275001 {source="DOID:12667", source="MONDO:equivalentTo"}
is_a: MONDO:0021084 {source="NCIT:C34422/inferred", source="linkedlifedata/inferred"} ! vision disorder
relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12667"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/193658001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005461
property_value: exactMatch DOID:12667
property_value: exactMatch http://identifiers.org/snomedct/83275001
property_value: exactMatch NCIT:C34422

[Term]
id: MONDO:0001565
name: abnormal retinal correspondence
xref: DOID:12668 {source="MONDO:equivalentTo"}
xref: ICD10:H53.31 {source="DOID:12668", source="MONDO:equivalentTo"}
xref: ICD9:368.34 {source="DOID:12668", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:79195003 {source="DOID:12668", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155010 {source="DOID:12668", source="MONDO:equivalentTo"}
is_a: MONDO:0001564 {source="DOID:12668", source="linkedlifedata"} ! binocular vision disease
property_value: exactMatch DOID:12668
property_value: exactMatch http://identifiers.org/snomedct/79195003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155010

[Term]
id: MONDO:0001566
name: hypercalcemia disease
def: "Abnormally high concentration of calcium in the peripheral blood." [NCIT:P378]
synonym: "hypercalcemia" EXACT [MONDO:ambiguous]
xref: COHD:435511 {source="MONDO:equivalentTo"}
xref: DOID:12678 {source="MONDO:equivalentTo"}
xref: HP:0003072 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E83.52 {source="DOID:12678", source="MONDO:equivalentTo"}
xref: ICD9:275.42 {source="DOID:12678", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006934 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3112 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy"}
xref: SCTID:66931009 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0020437 {source="DOID:12678", source="MONDO:equivalentTo"}
is_a: MONDO:0005557 {source="DOID:12678", source="MESH:D006934", source="linkedlifedata"} ! calcium metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/154752005
property_value: closeMatch http://identifiers.org/snomedct/166702002
property_value: closeMatch http://identifiers.org/snomedct/267505006
property_value: exactMatch DOID:12678
property_value: exactMatch http://identifiers.org/mesh/D006934
property_value: exactMatch http://identifiers.org/snomedct/66931009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020437
property_value: exactMatch NCIT:C3112

[Term]
id: MONDO:0001567
name: nephrocalcinosis
def: "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure . It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism , renal tubular acidosis , Alport syndrome , Bartter syndrome ,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." [https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis]
subset: gard_rare {source="GARD:0007177"}
synonym: "hypercalcemic nephropathy" RELATED [GARD:0007177]
xref: DOID:12679 {source="MONDO:equivalentTo"}
xref: GARD:0007177 {source="MONDO:equivalentTo"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009397 {source="DOID:12679", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84918 {source="DOID:12679", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:48638002 {source="DOID:12679", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.19"}
xref: UMLS:C0027709 {source="DOID:12679", source="MONDO:equivalentTo", source="NCIT:C84918"}
is_a: MONDO:0002123 {source="DOID:12679", source="MESH:D009397"} ! calcinosis
is_a: MONDO:0005240 {source="DOID:12679", source="MESH:D009397", source="NCIT:C84918/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/154752005
property_value: closeMatch http://identifiers.org/snomedct/190863003
property_value: closeMatch http://identifiers.org/snomedct/267505006
property_value: exactMatch DOID:12679
property_value: exactMatch http://identifiers.org/mesh/D009397
property_value: exactMatch http://identifiers.org/snomedct/48638002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027709
property_value: exactMatch NCIT:C84918
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis xsd:anyURI {source="GARD:0007177"}

[Term]
id: MONDO:0001568
name: mixed receptive-expressive language disorder
def: "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." [NCIT:P378]
xref: COHD:441277 {source="MONDO:equivalentTo"}
xref: DOID:12685 {source="MONDO:equivalentTo"}
xref: ICD10:F80.2 {source="MONDO:equivalentTo", source="DOID:12685"}
xref: ICD9:315.32 {source="MONDO:equivalentTo", source="i2s", source="DOID:12685"}
xref: NCIT:C92563 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:12685"}
xref: SCTID:25766007 {source="MONDO:equivalentTo", source="DOID:12685", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004750 {source="NCIT:C92563"} ! language disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236827
property_value: exactMatch DOID:12685
property_value: exactMatch http://identifiers.org/snomedct/25766007
property_value: exactMatch NCIT:C92563

[Term]
id: MONDO:0001569
name: acoustic neuroma
def: "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing." [NCIT:P378]
comment: Editor note: check relationship to vestibular schwannoma (disease)
subset: gard_rare
synonym: "acoustic neurilemmoma" EXACT [NCIT:C3276]
synonym: "acoustic neurilemoma" RELATED [GARD:0000223]
synonym: "acoustic neurinoma" RELATED [GARD:0000223]
synonym: "acoustic Neuroma" EXACT [NCIT:C3276]
synonym: "acoustic schwannoma" EXACT [NCIT:C3276]
synonym: "acoustic tumor" RELATED [GARD:0000223]
synonym: "neurilemoma, acoustic" EXACT [NCIT:C3276]
synonym: "neurinoma of the acoustic nerve" RELATED [GARD:0000223]
synonym: "Neuroma, acoustic" EXACT [NCIT:C3276]
synonym: "vestibular neurilemmoma" EXACT [DOID:12689, NCIT:C3276]
synonym: "vestibular schwannoma" EXACT [DOID:12689, NCIT:C3276]
xref: CSP:2012-6947 {source="DOID:12689"}
xref: DOID:12689 {source="MONDO:equivalentTo"}
xref: GARD:0000223 {source="MONDO:equivalentTo"}
xref: MESH:D009464 {source="DOID:12689", source="MONDO:equivalentTo"}
xref: NCIT:C3276 {source="DOID:12689", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: SCTID:126949007 {source="DOID:12689", source="MONDO:kboom-pr-0.74/0.46/0.07", source="MONDO:equivalentTo"}
is_a: MONDO:0002546 {source="DOID:12689", source="NCIT:C3276", source="linkedlifedata"} ! schwannoma
property_value: closeMatch http://identifiers.org/snomedct/154621002
property_value: closeMatch http://identifiers.org/snomedct/269643009
property_value: closeMatch http://identifiers.org/snomedct/389982003
property_value: closeMatch http://identifiers.org/snomedct/985004
property_value: exactMatch DOID:12689
property_value: exactMatch http://identifiers.org/mesh/D009464
property_value: exactMatch http://identifiers.org/snomedct/126949007
property_value: exactMatch NCIT:C3276

[Term]
id: MONDO:0001570
name: obsolete locked-in syndrome
is_obsolete: true
replaced_by: MONDO:0016567

[Term]
id: MONDO:0001571
name: gynecomastia
def: "Development of breast tissue in males." [NCIT:C3073]
synonym: "hypertrophy of breast of male organism" EXACT []
synonym: "male organism hypertrophy of breast" EXACT [MONDO:patterns/location]
xref: DOID:12698 {source="MONDO:equivalentTo"}
xref: HP:0000771
xref: ICD10:N62 {source="MONDO:subClassOf", source="DOID:12698"}
xref: MESH:D006177 {source="MONDO:equivalentTo", source="DOID:12698"}
xref: NCIT:C3073 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:12698"}
xref: SCTID:4754008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12698"}
xref: UMLS:C0018418 {source="NCIT:C3073", source="MONDO:equivalentTo", source="DOID:12698"}
is_a: MONDO:0001100 ! hypertrophy of breast
is_a: MONDO:0002145 {source="DOID:12698"} ! sex differentiation disease
property_value: closeMatch http://identifiers.org/snomedct/155963008
property_value: closeMatch http://identifiers.org/snomedct/198112004
property_value: closeMatch http://identifiers.org/snomedct/266646002
property_value: exactMatch DOID:12698
property_value: exactMatch http://identifiers.org/mesh/D006177
property_value: exactMatch http://identifiers.org/snomedct/4754008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018418
property_value: exactMatch NCIT:C3073

[Term]
id: MONDO:0001572
name: leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3157]
synonym: "fibroid" EXACT [NCIT:C3157]
synonym: "fibroid neoplasm" EXACT [NCIT:C3157]
synonym: "fibroid tumor" EXACT [NCIT:C3157]
synonym: "leiomyoma" EXACT [NCIT:C3157]
synonym: "leiomyoma, benign" EXACT [NCIT:C3157]
synonym: "leiomyomatous neoplasm" EXACT [NCIT:C3157]
synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [DOID:127]
synonym: "leiomyomatous tumor" EXACT [DOID:127, NCIT:C3157]
xref: DOID:127 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8890/0 {source="NCIT:C3157"}
xref: MESH:D007889 {source="DOID:127", source="MONDO:equivalentTo"}
xref: NCIT:C3157 {source="DOID:127", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:146801000119103 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0023267 {source="DOID:127", source="MONDO:equivalentTo", source="NCIT:C3157"}
is_a: MONDO:0006106 {source="NCIT:C3157"} ! benign smooth muscle neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189787000
property_value: closeMatch http://identifiers.org/snomedct/189788005
property_value: closeMatch http://identifiers.org/snomedct/189793008
property_value: closeMatch http://identifiers.org/snomedct/702978006
property_value: exactMatch DOID:127
property_value: exactMatch http://identifiers.org/mesh/D007889
property_value: exactMatch http://identifiers.org/snomedct/146801000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023267
property_value: exactMatch NCIT:C3157

[Term]
id: MONDO:0001573
name: obsolete Friedreich ataxia
is_obsolete: true
replaced_by: MONDO:0009245

[Term]
id: MONDO:0001574
name: capillary disease
def: "A disease involving a capillary." [MONDO:DesignPattern]
synonym: "capillary disease" EXACT [MONDO:patterns/location]
synonym: "capillary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of capillaries" EXACT [DOID:1271]
synonym: "disease of capillary" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of capillary" EXACT []
synonym: "disorder of capillary" EXACT [MONDO:patterns/location_top]
synonym: "disorder of capillary" RELATED [MONDO:patterns/location_top]
xref: DOID:1271 {source="MONDO:equivalentTo"}
xref: ICD10:I78 {source="DOID:1271"}
xref: ICD10:I78.9 {source="DOID:1271"}
xref: ICD9:448 {source="DOID:1271"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:58729003 {source="MONDO:kboom-pr-0.99/0.73/5.28", source="MONDO:equivalentTo", source="DOID:1271"}
xref: UMLS:C0155765 {source="MONDO:equivalentTo", source="DOID:1271"}
is_a: MONDO:0005385 {source="DOID:1271", source="MONDO:Redundant", source="linkedlifedata"} ! vascular disease
property_value: closeMatch http://identifiers.org/snomedct/155446001
property_value: closeMatch http://identifiers.org/snomedct/155449008
property_value: closeMatch http://identifiers.org/snomedct/195250004
property_value: closeMatch http://identifiers.org/snomedct/195380006
property_value: closeMatch http://identifiers.org/snomedct/195390003
property_value: closeMatch http://identifiers.org/snomedct/266324004
property_value: closeMatch http://identifiers.org/snomedct/57223003
property_value: exactMatch DOID:1271
property_value: exactMatch http://identifiers.org/snomedct/58729003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155765

[Term]
id: MONDO:0001575
name: chronic gonococcal salpingitis
def: "Chronic form of gonococcal salpingitis." [MONDO:patterns/chronic]
synonym: "gonococcal salpingitis" BROAD [DOID:12718, MTHICD9_2006:098.37]
synonym: "gonococcal salpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:193700 {source="MONDO:equivalentTo"}
xref: DOID:12718 {source="MONDO:equivalentTo"}
xref: ICD9:098.37 {source="DOID:12718"}
xref: SCTID:53529004 {source="MONDO:kboom-pr-0.93/0.68/1.83", source="MONDO:equivalentTo", source="DOID:12718"}
xref: UMLS:C0153208 {source="MONDO:equivalentTo", source="DOID:12718"}
is_a: MONDO:0003617 {source="DOID:12718", source="MONDO:Redundant", source="MONDOLEX:0001575", source="linkedlifedata"} ! chronic salpingitis
is_a: MONDO:0021159 {source="MONDO:Redundant", source="MONDOLEX:0001575", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal salpingitis
property_value: exactMatch DOID:12718
property_value: exactMatch http://identifiers.org/snomedct/53529004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153208

[Term]
id: MONDO:0001576
name: telangiectasis
def: "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." [NCIT:P378]
synonym: "telangiectasia" EXACT [DOID:1272, NCIT:C28194]
xref: DOID:1272 {source="MONDO:equivalentTo"}
xref: MESH:D013684 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1272"}
xref: NCIT:C28194 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1272"}
xref: SCTID:247479008 {source="MONDO:equivalentTo", source="DOID:1272"}
xref: UMLS:C0039446 {source="MONDO:equivalentTo", source="NCIT:C28194", source="DOID:1272"}
is_a: MONDO:0005294 {source="DOID:1272"} ! peripheral vascular disease
is_a: MONDO:0021658 {source="NCIT:C28194"} ! vascular ectasia
property_value: closeMatch http://identifiers.org/snomedct/112641009
property_value: closeMatch http://identifiers.org/snomedct/155449008
property_value: closeMatch http://identifiers.org/snomedct/266324004
property_value: closeMatch http://identifiers.org/snomedct/276328002
property_value: exactMatch DOID:1272
property_value: exactMatch http://identifiers.org/mesh/D013684
property_value: exactMatch http://identifiers.org/snomedct/247479008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039446
property_value: exactMatch NCIT:C28194

[Term]
id: MONDO:0001577
name: respiratory syncytial virus infectious disease
def: "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." [NCIT:C3354]
synonym: "Human respiratory syncytial virus infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Human respiratory syncytial virus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "respiratory syncytial virus infection" EXACT [NCIT:C3354]
xref: DOID:1273 {source="MONDO:equivalentTo"}
xref: EFO:1001413 {source="MONDO:equivalentTo"}
xref: MESH:D018357 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: NCIT:C3354 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: SCTID:55735004 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: UMLS:C0035235 {source="DOID:1273", source="MONDO:equivalentTo", source="NCIT:C3354"}
is_a: MONDO:0005856 ! Mononegavirales infectious disease
is_a: MONDO:0024352 {source="NCIT:C3354"} ! viral respiratory tract infection
property_value: closeMatch http://identifiers.org/snomedct/186750007
property_value: exactMatch DOID:1273
property_value: exactMatch http://identifiers.org/mesh/D018357
property_value: exactMatch http://identifiers.org/snomedct/55735004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035235
property_value: exactMatch NCIT:C3354

[Term]
id: MONDO:0001578
name: hernia of ovary and fallopian tube
comment: Editor note: consider obsoleting (should be finding/phenotype)
xref: DOID:12735 {source="MONDO:equivalentTo"}
xref: ICD10:N83.4 {source="DOID:12735"}
xref: ICD9:620.4 {source="DOID:12735"}
is_a: MONDO:0002263 {source="DOID:12735"} ! female reproductive system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0495094
property_value: exactMatch DOID:12735

[Term]
id: MONDO:0001579
name: corneal staphyloma
xref: DOID:12753 {source="MONDO:equivalentTo"}
xref: ICD10:H18.72 {source="DOID:12753"}
xref: ICD9:371.73 {source="MONDO:equivalentTo", source="i2s", source="DOID:12753"}
xref: SCTID:52476003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12753"}
xref: UMLS:C0152440 {source="MONDO:equivalentTo", source="DOID:12753"}
is_a: MONDO:0000942 {source="DOID:12753", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
property_value: closeMatch http://identifiers.org/snomedct/193849005
property_value: exactMatch DOID:12753
property_value: exactMatch http://identifiers.org/snomedct/52476003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152440

[Term]
id: MONDO:0001580
name: lacrimal duct cancer
def: "A primary or metastatic malignant neoplasm affecting the lacrimal duct." [NCIT:C3567]
synonym: "cancer of lacrimal drainage system" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal drainage system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lacrimal drainage system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant lacrimal duct neoplasm" EXACT [NCIT:C3567]
synonym: "malignant lacrimal duct tumor" EXACT [NCIT:C3567]
synonym: "malignant neoplasm of lacrimal drainage system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lacrimal duct" EXACT [DOID:12756, ICD9CM_2006:190.7, NCIT:C3567]
synonym: "malignant neoplasm of the lacrimal duct" EXACT [NCIT:C3567]
synonym: "malignant tumor of lacrimal duct" EXACT [DOID:12756, NCIT:C3567]
synonym: "malignant tumor of the lacrimal duct" EXACT [NCIT:C3567]
xref: DOID:12756 {source="MONDO:equivalentTo"}
xref: ICD9:190.7 {source="DOID:12756", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3567 {source="DOID:12756", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:188274004 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="DOID:12756", source="MONDO:equivalentTo"}
xref: UMLS:C0153631 {source="DOID:12756", source="MONDO:equivalentTo", source="NCIT:C3567"}
is_a: MONDO:0002460 {source="DOID:12756", source="MONDO:Redundant", source="NCIT:C3567", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal system cancer
property_value: closeMatch http://identifiers.org/snomedct/188275003
property_value: closeMatch http://identifiers.org/snomedct/93852003
property_value: exactMatch DOID:12756
property_value: exactMatch http://identifiers.org/snomedct/188274004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153631
property_value: exactMatch NCIT:C3567

[Term]
id: MONDO:0001581
name: obsolete tolosa-hunt syndrome
is_obsolete: true
replaced_by: MONDO:0018983

[Term]
id: MONDO:0001582
name: cicatricial ectropion
xref: COHD:376699 {source="MONDO:equivalentTo"}
xref: DOID:12782 {source="MONDO:equivalentTo"}
xref: ICD9:374.14 {source="MONDO:equivalentTo", source="i2s", source="DOID:12782"}
xref: SCTID:28914006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12782"}
xref: UMLS:C0155196 {source="MONDO:equivalentTo", source="DOID:12782"}
is_a: MONDO:0002043 {source="DOID:12782", source="linkedlifedata"} ! ectropion (disease)
property_value: exactMatch DOID:12782
property_value: exactMatch http://identifiers.org/snomedct/28914006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155196

[Term]
id: MONDO:0001583
name: diabetic polyneuropathy
synonym: "diabetes mellitus with polyneuropathy" EXACT [DOID:12785]
synonym: "polyneuropathy in diabetes" EXACT [DOID:12785, ICD9CM_2006:357.2]
xref: COHD:376112 {source="MONDO:equivalentTo"}
xref: DOID:12785 {source="MONDO:equivalentTo"}
xref: ICD10:G63.2 {source="MONDO:equivalentTo"}
xref: ICD9:357.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:12785"}
xref: SCTID:49455004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12785"}
xref: UMLS:C0271680 {source="MONDO:equivalentTo", source="DOID:12785"}
is_a: MONDO:0005016 ! diabetic nephropathy
is_a: MONDO:0006626 {source="DOID:12785", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetic neuropathy
property_value: closeMatch http://identifiers.org/snomedct/190349003
property_value: closeMatch http://identifiers.org/snomedct/193182005
property_value: exactMatch DOID:12785
property_value: exactMatch http://identifiers.org/snomedct/49455004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271680

[Term]
id: MONDO:0001584
name: ocular motility disease
synonym: "disorder of eye movements" EXACT [DOID:1279]
synonym: "eye movement disorder" EXACT [CSP2005:1115-2778, DOID:1279]
xref: COHD:377885 {source="MONDO:equivalentTo"}
xref: DOID:1279 {source="MONDO:equivalentTo"}
xref: EFO:1001990 {source="MONDO:equivalentTo"}
xref: GARD:0007237 {source="MONDO:equivalentTo"}
xref: ICD9:378.9 {source="MONDO:equivalentTo", source="DOID:1279", source="i2s"}
xref: SCTID:45030009 {source="MONDO:equivalentTo", source="DOID:1279", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003569 {source="DOID:1279"} ! cranial nerve neuropathy
property_value: closeMatch http://identifiers.org/mesh/D015835
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028850
property_value: exactMatch DOID:1279
property_value: exactMatch http://identifiers.org/snomedct/45030009

[Term]
id: MONDO:0001585
name: hallucinogen abuse
def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." [DOID:12797, http://en.wikipedia.org/wiki/Hallucinogen]
xref: DOID:12797 {source="MONDO:equivalentTo"}
xref: ICD10:F16.1 {source="DOID:12797"}
xref: ICD9:305.3 {source="DOID:12797"}
xref: SCTID:74851005 {source="MONDO:equivalentTo", source="DOID:12797", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:12797", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018526
property_value: exactMatch DOID:12797
property_value: exactMatch http://identifiers.org/snomedct/74851005

[Term]
id: MONDO:0001586
name: mucopolysaccharidosis type 1
def: "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." [NCIT:P378]
subset: ordo_disease {source="Orphanet:579"}
synonym: "Alpha-L-iduronidase deficiency" EXACT [Orphanet:579]
synonym: "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)" RELATED [GARD:0010335]
synonym: "Hurler syndrome" EXACT [DOID:12802]
synonym: "Hurler syndrome (subtype)" RELATED [GARD:0010335]
synonym: "Hurler-Scheie syndrome" EXACT EXCLUDE [DOID:12802]
synonym: "Hurler-Scheie syndrome (subtype)" RELATED [GARD:0010335]
synonym: "IDUA deficiency" RELATED [GARD:0010335]
synonym: "iduronidase deficiency disease" EXACT [CSP2005:1849-6334, DOID:12802]
synonym: "lipochondrodystrophy" EXACT [DOID:12802, MTHICD9_2006:277.5]
synonym: "MPS 1" RELATED [GARD:0010335]
synonym: "MPS I" RELATED [GARD:0010335]
synonym: "MPS I - Hurler syndrome" EXACT [DOID:12802]
synonym: "MPS1" EXACT [Orphanet:579]
synonym: "MPSI" EXACT [Orphanet:579]
synonym: "mucopolysaccharidosis I" RELATED [DOID:12802]
synonym: "mucopolysaccharidosis type 1" EXACT [MONDO:0018934]
synonym: "mucopolysaccharidosis type I" EXACT [DOID:12802, MONDORULE:1, Orphanet:579]
synonym: "mucopolysaccharidosis, MPS-I" EXACT [DOID:12802]
synonym: "mucopolysaccharidosis, type 1" EXACT [DOID:12802]
synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)" RELATED [GARD:0010335]
synonym: "severe MPS I (subtype, also known as Hurler syndrome)" RELATED [GARD:0010335]
xref: DOID:12802 {source="MONDO:equivalentTo"}
xref: GARD:0010335 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E76.0 {source="ORDO:579/e", source="Orphanet:579", source="ORDO:579/specific", source="DOID:12802"}
xref: MedDRA:10056886 {source="ORDO:579/e", source="Orphanet:579"}
xref: NCIT:C85053 {source="DOID:12802", source="MONDO:equivalentTo"}
xref: Orphanet:579 {source="MONDO:equivalentTo"}
xref: SCTID:75610003 {source="DOID:12802", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019058 {source="Orphanet:579"} ! neurometabolic disease
is_a: MONDO:0019249 {source="DOID:12802", source="NCIT:C85053", source="Orphanet:579", source="linkedlifedata"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:579"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020279 {source="Orphanet:579"} ! metabolic disease with corneal opacity
relationship: excluded_subClassOf MONDO:0020186 {source="Orphanet:579"} ! obsolete eyebrow hypertrophy
property_value: closeMatch http://identifiers.org/snomedct/190938004
property_value: closeMatch http://identifiers.org/snomedct/267453008
property_value: exactMatch DOID:12802
property_value: exactMatch http://identifiers.org/meddra/10056886
property_value: exactMatch http://identifiers.org/mesh/D008059
property_value: exactMatch http://identifiers.org/snomedct/75610003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713321
property_value: exactMatch NCIT:C85053
property_value: exactMatch Orphanet:579

[Term]
id: MONDO:0001587
name: obsolete mucopolysaccharidosis type 4
is_obsolete: true
replaced_by: MONDO:0018938

[Term]
id: MONDO:0001588
name: chronic lacrimal gland enlargement
synonym: "chronic enlargement of lacrimal gland" EXACT [DOID:12809, ICD9CM_2006:375.03]
xref: COHD:381867 {source="MONDO:equivalentTo"}
xref: DOID:12809 {source="MONDO:equivalentTo"}
xref: ICD10:H04.03 {source="DOID:12809"}
xref: ICD9:375.03 {source="MONDO:equivalentTo", source="i2s", source="DOID:12809"}
xref: SCTID:4839005 {source="MONDO:equivalentTo", source="DOID:12809", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1300133 {source="MONDO:equivalentTo", source="DOID:12809"}
is_a: MONDO:0004804 {source="DOID:12809"} ! dacryoadenitis
property_value: closeMatch http://identifiers.org/snomedct/193972008
property_value: closeMatch http://identifiers.org/snomedct/393582003
property_value: exactMatch DOID:12809
property_value: exactMatch http://identifiers.org/snomedct/4839005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300133

[Term]
id: MONDO:0001589
name: obsolete vaginal enterocele
comment: Represents finding.
synonym: "enterocele" BROAD [DOID:1283]
synonym: "vaginal hernia" RELATED []
xref: COHD:4162218 {source="MONDO:equivalentObsolete"}
xref: DOID:1283 {source="MONDO:equivalentObsolete"}
xref: ICD10:K46 {source="DOID:1283"}
xref: ICD10:N81.5 {source="DOID:1283"}
xref: ICD9:618.6 {source="MONDO:equivalentObsolete", source="i2s", source="DOID:1283"}
xref: SCTID:398061002 {source="MONDO:equivalentObsolete", source="DOID:1283", source="MONDO:kboom-pr-1.00/0.92/29.66"}
relationship: excluded_subClassOf MONDO:0001593 {source="DOID:1283"} ! rectal disease
property_value: closeMatch http://identifiers.org/snomedct/198272003
property_value: closeMatch http://identifiers.org/snomedct/198275001
property_value: closeMatch http://identifiers.org/snomedct/270884000
property_value: closeMatch http://identifiers.org/snomedct/47671001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205792
property_value: exactMatch DOID:1283
property_value: exactMatch http://identifiers.org/snomedct/398061002
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1777 xsd:string
is_obsolete: true
consider: HP:0100672

[Term]
id: MONDO:0001590
name: quadriplegia
def: "Paralysis of all four limbs." [NCIT:P378]
synonym: "bilateral diplegia" EXACT [NCIT:C50721]
synonym: "tetraplegia" EXACT [CSP2005:2057-3626, DOID:12835]
xref: COHD:374914 {source="MONDO:equivalentTo"}
xref: DOID:12835 {source="MONDO:equivalentTo"}
xref: ICD10:G82.5 {source="DOID:12835"}
xref: ICD10:G82.50 {source="DOID:12835"}
xref: ICD9:344.00 {source="DOID:12835", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:344.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011782 {source="DOID:12835", source="MONDO:equivalentTo"}
xref: NCIT:C50721 {source="DOID:12835", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:11538006 {source="DOID:12835", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0034372 {source="NCIT:C50721", source="DOID:12835", source="MONDO:equivalentTo"}
is_a: MONDO:0006496 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:12835"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155030003
property_value: exactMatch DOID:12835
property_value: exactMatch http://identifiers.org/mesh/D011782
property_value: exactMatch http://identifiers.org/snomedct/11538006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034372
property_value: exactMatch NCIT:C50721

[Term]
id: MONDO:0001591
name: senile entropion
synonym: "involutional entropion" EXACT [DOID:12836]
xref: COHD:372322 {source="MONDO:equivalentTo"}
xref: DOID:12836 {source="MONDO:equivalentTo"}
xref: ICD9:374.01 {source="DOID:12836", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:55408009 {source="DOID:12836", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155188 {source="DOID:12836", source="MONDO:equivalentTo"}
is_a: MONDO:0001519 {source="DOID:12836", source="linkedlifedata"} ! entropion (disease)
property_value: exactMatch DOID:12836
property_value: exactMatch http://identifiers.org/snomedct/55408009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155188

[Term]
id: MONDO:0001592
name: prolapse of female genital organ
comment: Editor note: requires review
xref: DOID:1284 {source="MONDO:equivalentTo"}
xref: ICD10:N81 {source="MONDO:equivalentTo"}
xref: ICD9:618.8 {source="DOID:1284"}
xref: ICD9:618.89 {source="DOID:1284"}
xref: SCTID:73998008 {source="MONDO:equivalentTo"}
xref: UMLS:C0156349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="DOID:1284"} ! female reproductive system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029801
property_value: exactMatch DOID:1284
property_value: exactMatch http://identifiers.org/snomedct/73998008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156349

[Term]
id: MONDO:0001593
name: rectal disease
def: "A disease that involves the rectum." [MONDO:patterns/location]
synonym: "disease of rectum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of rectum" EXACT []
synonym: "disorder of rectum" EXACT [MONDO:patterns/location_top]
synonym: "disorder of rectum" RELATED [MONDO:patterns/location_top]
synonym: "rectal disorder" RELATED []
synonym: "rectum disease" EXACT [MONDO:patterns/location]
synonym: "rectum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1285 {source="MONDO:equivalentTo"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012002 {source="DOID:1285", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:5964004 {source="DOID:1285", source="MONDO:equivalentTo"}
xref: UMLS:C0034882 {source="DOID:1285", source="MONDO:equivalentTo"}
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch DOID:1285
property_value: exactMatch http://identifiers.org/mesh/D012002
property_value: exactMatch http://identifiers.org/snomedct/5964004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034882

[Term]
id: MONDO:0001594
name: Achilles bursitis
def: "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "Achilles bursitis or tendinitis" EXACT [DOID:12857, ICD9CM_2006:726.71]
synonym: "capped hock" EXACT [DOID:12857]
synonym: "Haglund's deformity" EXACT [DOID:12857]
synonym: "Haglund's disease" EXACT [DOID:12857]
xref: COHD:439524 {source="MONDO:equivalentTo"}
xref: DOID:12857 {source="MONDO:equivalentTo"}
xref: ICD10:M76.6 {source="DOID:12857"}
xref: ICD9:726.71 {source="DOID:12857"}
xref: UMLS:C0149846 {source="DOID:12857", source="MONDO:equivalentTo"}
is_a: MONDO:0002471 {source="DOID:12857", source="MONDO:Entailed", source="MONDO:Redundant"} ! bursitis
is_a: MONDO:0004857 ! tendinitis
is_a: MONDO:0044967 ! limb disorder
is_a: MONDO:0045004 ! skeletal ligament disease
property_value: closeMatch http://identifiers.org/snomedct/202879008
property_value: closeMatch http://identifiers.org/snomedct/203394008
property_value: closeMatch http://identifiers.org/snomedct/221695002
property_value: closeMatch http://identifiers.org/snomedct/74859007
property_value: closeMatch http://identifiers.org/snomedct/87494005
property_value: exactMatch DOID:12857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149846

[Term]
id: MONDO:0001595
name: choreatic disease
def: "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." [NCIT:C84633]
subset: ordo_disease {source="Orphanet:1429"}
synonym: "Bch" RELATED [OMIM:118700]
synonym: "benign familial chorea" EXACT [Orphanet:1429]
synonym: "BHC" RELATED [OMIM:118700]
synonym: "chorea" EXACT EXCLUDE [DOID:12859, MONDO:0007324]
synonym: "chorea, benign hereditary; BHC" NARROW [OMIM:118700]
synonym: "hereditary benign chorea" NARROW [Orphanet:1429]
synonym: "hereditary chorea" RELATED [DOID:12859]
synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700]
xref: DOID:12859 {source="MONDO:equivalentTo"}
xref: EFO:0004152 {source="MONDO:equivalentTo"}
xref: HP:0002072 {source="MONDO:otherHierarchy"}
xref: ICD10:G25.5 {source="ORDO:1429/attributed", source="ORDO:1429/ntbt", source="DOID:12859", source="Orphanet:1429"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002819 {source="MONDO:equivalentTo", source="EFO:0004152"}
xref: NCIT:C84633 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.71/0.25", source="EFO:0004152"}
xref: Orphanet:1429 {source="MONDO:equivalentTo", source="DOID:12859", source="OMIM:118700"}
xref: SCTID:230298007 {source="MONDO:equivalentTo"}
xref: SCTID:230306001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0017646 {source="Orphanet:1429"} ! neurodegenerative disease with chorea
relationship: excluded_subClassOf MONDO:0015548 {source="Orphanet:1429"} ! Huntington disease-like syndrome
property_value: closeMatch http://identifiers.org/snomedct/271700006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008489
property_value: exactMatch DOID:12859
property_value: exactMatch http://identifiers.org/mesh/D002819
property_value: exactMatch http://identifiers.org/snomedct/230298007
property_value: exactMatch http://identifiers.org/snomedct/230306001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393584
property_value: exactMatch NCIT:C84633
property_value: exactMatch Orphanet:1429

[Term]
id: MONDO:0001596
name: hypochondriasis
def: "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." [NCIT:P378]
synonym: "hypochondria" EXACT [DOID:12883, NCIT:C9493]
synonym: "hypochondriacal disorder" EXACT [DOID:12883]
synonym: "hypochondriacal neurosis" EXACT [CSP2005:2483-6952, DOID:12883]
xref: COHD:434920 {source="MONDO:equivalentTo"}
xref: DOID:12883 {source="MONDO:equivalentTo"}
xref: ICD10:F45.2 {source="DOID:12883"}
xref: ICD10:F45.21 {source="DOID:12883"}
xref: ICD9:300.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:12883"}
xref: MESH:D006998 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12883"}
xref: SCTID:18193002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12883"}
is_a: MONDO:0003117 {source="DOID:12883", source="MESH:D006998", source="linkedlifedata"} ! somatoform disorder
property_value: closeMatch http://identifiers.org/snomedct/154891008
property_value: closeMatch http://identifiers.org/snomedct/192433006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020604
property_value: exactMatch DOID:12883
property_value: exactMatch http://identifiers.org/mesh/D006998
property_value: exactMatch http://identifiers.org/snomedct/18193002
property_value: exactMatch NCIT:C9493

[Term]
id: MONDO:0001597
name: submandibular gland disease
def: "A disease involving the submandibular gland." [MONDO:DesignPattern]
synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of submandibular gland" EXACT []
synonym: "disorder of submandibular gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of submandibular gland" RELATED [MONDO:patterns/location_top]
synonym: "submandibular gland disease" EXACT [MONDO:patterns/location]
synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12897 {source="MONDO:equivalentTo"}
xref: MESH:D013364 {source="DOID:12897", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0038557 {source="DOID:12897", source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="DOID:12897", source="MESH:D013364", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disease
property_value: exactMatch DOID:12897
property_value: exactMatch http://identifiers.org/mesh/D013364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038557

[Term]
id: MONDO:0001598
name: benign lymphoepithelial lesion of salivary gland
def: "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." [NCIT:C3949]
synonym: "benign lymphoepithelial lesion of salivary gland" EXACT [NCIT:C3949]
synonym: "benign lymphoepithelial lesion of the salivary gland" RELATED [NCIT:C3949]
synonym: "benign salivary gland lymphoepithelial lesion" RELATED [NCIT:C3949]
synonym: "Godwin tumor" EXACT [DOID:12899, NCIT:C3949]
xref: DOID:12899 {source="MONDO:equivalentTo"}
xref: ICD10:K11.8 {source="DOID:12899"}
xref: ICD9:527.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3949 {source="DOID:12899", source="MONDO:equivalentTo"}
xref: SCTID:45517002 {source="DOID:12899", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0266995 {source="NCIT:C3949", source="DOID:12899", source="MONDO:equivalentTo"}
is_a: MONDO:0000586 ! autoimmune disease of exocrine system
is_a: MONDO:0001142 {source="DOID:12899", source="NCIT:C3949", source="linkedlifedata", source="linkedlifedata/inferred"} ! salivary gland disease
property_value: exactMatch DOID:12899
property_value: exactMatch http://identifiers.org/snomedct/45517002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266995
property_value: exactMatch NCIT:C3949

[Term]
id: MONDO:0001599
name: obsolete Mikulicz disease
is_obsolete: true
replaced_by: MONDO:0019191

[Term]
id: MONDO:0001600
name: mucocele of salivary gland
def: "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." [NCIT:P378]
synonym: "mucous retention cyst of salivary gland" EXACT [DOID:12904, MTHICD9_2006:527.6]
synonym: "ranula" EXACT [DOID:12904]
synonym: "salivary cyst" EXACT [DOID:12904, NCIT:C27649]
synonym: "salivary gland mucocele" EXACT [DOID:12904]
xref: COHD:24977 {source="MONDO:equivalentTo"}
xref: DOID:12904 {source="MONDO:equivalentTo"}
xref: ICD10:K11.6 {source="DOID:12904", source="MONDO:equivalentTo"}
xref: ICD9:527.6 {source="DOID:12904", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011900 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:69825009 {source="MONDO:kboom-pr-0.88/0.75/0.14", source="DOID:12904", source="MONDO:equivalentTo"}
xref: UMLS:C0026686 {source="DOID:12904", source="MONDO:equivalentTo"}
xref: UMLS:C2242813 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="DOID:12904", source="linkedlifedata", source="linkedlifedata/inferred"} ! salivary gland disease
property_value: closeMatch http://identifiers.org/snomedct/196508008
property_value: closeMatch http://identifiers.org/snomedct/196509000
property_value: closeMatch http://identifiers.org/snomedct/196512002
property_value: exactMatch DOID:12904
property_value: exactMatch http://identifiers.org/mesh/D011900
property_value: exactMatch http://identifiers.org/snomedct/69825009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026686
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242813
property_value: exactMatch NCIT:C27649

[Term]
id: MONDO:0001601
name: Plasmodium ovale malaria
def: "An malaria caused by infection with Plasmodium ovale." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Malariaby Plasmodium ovale" EXACT [DOID:12919, MTHICD9_2006:084.3]
synonym: "ovale malaria" EXACT [DOID:12919]
xref: DOID:12919 {source="MONDO:equivalentTo"}
xref: ICD10:B53.0 {source="MONDO:equivalentTo", source="DOID:12919"}
xref: ICD9:084.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12919"}
xref: SCTID:19341001 {source="MONDO:equivalentTo", source="DOID:12919", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152072 {source="MONDO:equivalentTo", source="DOID:12919"}
is_a: MONDO:0005136 ! malaria
property_value: exactMatch DOID:12919
property_value: exactMatch http://identifiers.org/snomedct/19341001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152072

[Term]
id: MONDO:0001602
name: labia minora carcinoma
def: "A carcinoma that arises from the labia minora." [NCIT:C9364]
synonym: "carcinoma of labia minora" EXACT [DOID:1293, NCIT:C9364]
synonym: "carcinoma of labium minora" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the labia minora" EXACT [NCIT:C9364]
synonym: "labia minora cancer" BROAD [NCIT:C9364]
synonym: "labia minora cancer" EXACT [DOID:1293, NCIT:C9364]
synonym: "labia minora carcinoma" EXACT [NCIT:C9364]
synonym: "labium minora carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1293 {source="MONDO:equivalentTo"}
xref: NCIT:C9364 {source="MONDO:equivalentTo", source="DOID:1293"}
xref: UMLS:C1334357 {source="NCIT:C9364", source="MONDO:equivalentTo", source="DOID:1293"}
is_a: MONDO:0001526 {source="DOID:1293", source="MONDO:Redundant", source="NCIT:C9364"} ! labia minora cancer
is_a: MONDO:0002656 ! skin carcinoma
is_a: MONDO:0005215 {source="DOID:1293", source="MONDO:Redundant", source="NCIT:C9364"} ! vulvar carcinoma
property_value: exactMatch DOID:1293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334357
property_value: exactMatch NCIT:C9364

[Term]
id: MONDO:0001603
name: paralytic lagophthalmos (disease)
synonym: "paralytic lagophthalmos" EXACT [MONDO:ambiguous]
xref: COHD:375821 {source="MONDO:equivalentTo"}
xref: DOID:12958 {source="MONDO:equivalentTo"}
xref: HP:0030003 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H02.23 {source="DOID:12958"}
xref: ICD9:374.21 {source="DOID:12958"}
xref: UMLS:C0155197 {source="MONDO:equivalentTo", source="DOID:12958"}
is_a: MONDO:0001604 {source="DOID:12958"} ! lagophthalmos
property_value: closeMatch http://identifiers.org/snomedct/193938000
property_value: closeMatch http://identifiers.org/snomedct/59890007
property_value: exactMatch DOID:12958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155197

[Term]
id: MONDO:0001604
name: lagophthalmos
xref: COHD:381021 {source="MONDO:equivalentTo"}
xref: DOID:12959 {source="MONDO:equivalentTo"}
xref: ICD10:H02.2 {source="DOID:12959", source="MONDO:equivalentTo"}
xref: ICD10:H02.20 {source="DOID:12959"}
xref: ICD9:374.2 {source="DOID:12959"}
xref: ICD9:374.20 {source="DOID:12959"}
xref: SCTID:60735000 {source="DOID:12959", source="MONDO:equivalentTo"}
xref: UMLS:C0152226 {source="DOID:12959", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="DOID:12959"} ! eyelid disease
property_value: closeMatch http://identifiers.org/snomedct/193936001
property_value: closeMatch http://identifiers.org/snomedct/193937005
property_value: closeMatch http://identifiers.org/snomedct/193941009
property_value: exactMatch DOID:12959
property_value: exactMatch http://identifiers.org/snomedct/60735000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152226

[Term]
id: MONDO:0001606
name: central nervous system leukemia
def: "Leukemia infiltrating the central nervous system structures." [NCIT:C5440]
synonym: "central nervous system leukemia" EXACT [NCIT:C5440]
synonym: "central nervous system leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS leukemia" EXACT [NCIT:C5440]
synonym: "leukemia (disease) of central nervous system" EXACT []
synonym: "leukemia of central nervous system" EXACT [NCIT:C5440]
synonym: "leukemia of CNS" EXACT [NCIT:C5440]
synonym: "leukemia of the central nervous system" EXACT [NCIT:C5440]
synonym: "leukemia of the CNS" EXACT [DOID:12969, NCIT:C5440]
xref: DOID:12969 {source="MONDO:equivalentTo"}
xref: NCIT:C5440 {source="MONDO:equivalentTo", source="DOID:12969", source="exact-label-match"}
xref: UMLS:C1332884 {source="NCIT:C5440", source="MONDO:equivalentTo", source="DOID:12969"}
is_a: MONDO:0003641 {source="DOID:12969", source="MONDO:Redundant", source="NCIT:C5440"} ! central nervous system hematopoietic neoplasm
is_a: MONDO:0005059 {source="DOID:12969", source="MONDO:Redundant", source="NCIT:C5440"} ! leukemia (disease)
property_value: exactMatch DOID:12969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332884
property_value: exactMatch NCIT:C5440

[Term]
id: MONDO:0001607
name: intrapelvic lymph node leukemic reticuloendotheliosis
synonym: "leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [DOID:12972, ICD9CM_2006:202.46]
synonym: "leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT [DOID:12972]
xref: DOID:12972 {source="MONDO:equivalentTo"}
xref: ICD9:202.46 {source="DOID:12972"}
xref: SCTID:93145002 {source="MONDO:equivalentTo", source="DOID:12972", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153831 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:12972"}
is_a: MONDO:0001082 {source="DOID:12972", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node cancer
is_a: MONDO:0017814 ! primary bone lymphoma
is_a: MONDO:0018935 {source="DOID:12972", source="linkedlifedata"} ! hairy cell leukemia
is_a: MONDO:0021138 ! bone marrow cancer
property_value: closeMatch http://identifiers.org/snomedct/188650008
property_value: exactMatch DOID:12972
property_value: exactMatch http://identifiers.org/snomedct/93145002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153831

[Term]
id: MONDO:0001608
name: vagus nerve neoplasm
def: "A neoplasm involving a vagus nerve." [MONDO:patterns/neoplasm]
synonym: "neoplasm of tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of the tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of the Vagus nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of Vagus nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of vagus nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tenth cranial nerve neoplasm" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve neoplasms" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve tumor" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve tumors" EXACT [NCIT:C5831]
synonym: "tumor of tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "tumor of the tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "tumor of the Vagus nerve" EXACT [NCIT:C5831]
synonym: "tumor of Vagus nerve" EXACT [NCIT:C5831]
synonym: "tumor of vagus nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "Vagus nerve neoplasm" EXACT [NCIT:C5831]
synonym: "vagus nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Vagus nerve neoplasms" EXACT [NCIT:C5831]
synonym: "Vagus nerve tumor" EXACT [NCIT:C5831]
synonym: "vagus nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Vagus nerve tumors" EXACT [DOID:12984, NCIT:C5831]
synonym: "Xth cranial nerve neoplasms" EXACT [NCIT:C5831]
synonym: "Xth cranial nerve tumors" EXACT [NCIT:C5831]
xref: DOID:12984 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5831 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:12984"}
xref: SCTID:126976007 {source="MONDO:equivalentTo", source="DOID:12984", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263901 {source="MONDO:equivalentTo", source="NCIT:C5831", source="DOID:12984"}
is_a: MONDO:0001535 {source="MONDO:Redundant", source="NCIT:C5831", source="OWLReasoner:2017", source="linkedlifedata"} ! vagus nerve disease
is_a: MONDO:0002638 ! glossopharyngeal nerve neoplasm
property_value: exactMatch DOID:12984
property_value: exactMatch http://identifiers.org/snomedct/126976007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263901
property_value: exactMatch NCIT:C5831

[Term]
id: MONDO:0001609
name: agranulocytosis
def: "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." [NCIT:P378]
synonym: "granulocytopenia" EXACT [DOID:12987, NCIT:C2863]
synonym: "Granulocytopenic disorder" EXACT [DOID:12987]
synonym: "Granulopenia" EXACT [DOID:12987]
xref: DOID:12987 {source="MONDO:equivalentTo"}
xref: GARD:0006545 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="DOID:12987", source="MONDO:equivalentTo"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000380 {source="DOID:12987", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2863 {source="DOID:12987", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy"}
xref: SCTID:417672002 {source="DOID:12987", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0001824 {source="DOID:12987", source="MONDO:equivalentTo"}
is_a: MONDO:0003785 {source="DOID:12987", source="MESH:D000380", source="NCIT:C2863", source="linkedlifedata"} ! leukopenia
property_value: closeMatch http://identifiers.org/snomedct/142919000
property_value: closeMatch http://identifiers.org/snomedct/154830007
property_value: closeMatch http://identifiers.org/snomedct/165508008
property_value: closeMatch http://identifiers.org/snomedct/17182001
property_value: closeMatch http://identifiers.org/snomedct/191336001
property_value: closeMatch http://identifiers.org/snomedct/191350006
property_value: closeMatch http://identifiers.org/snomedct/310589001
property_value: closeMatch http://identifiers.org/snomedct/72885007
property_value: exactMatch DOID:12987
property_value: exactMatch http://identifiers.org/mesh/D000380
property_value: exactMatch http://identifiers.org/snomedct/417672002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001824
property_value: exactMatch NCIT:C2863

[Term]
id: MONDO:0001610
name: acute dacryocystitis
def: "Acute form of dacryocystitis." [MONDO:patterns/acute]
synonym: "dacryocystitis - acute" EXACT [DOID:12996]
synonym: "dacryocystitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:438761 {source="MONDO:equivalentTo"}
xref: DOID:12996 {source="MONDO:equivalentTo"}
xref: ICD10:H04.32 {source="DOID:12996"}
xref: ICD9:375.32 {source="DOID:12996", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:25470000 {source="DOID:12996", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155237 {source="DOID:12996", source="MONDO:equivalentTo"}
is_a: MONDO:0004926 {source="DOID:12996", source="MONDO:Redundant", source="linkedlifedata"} ! dacryocystitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/193986007
property_value: exactMatch DOID:12996
property_value: exactMatch http://identifiers.org/snomedct/25470000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155237

[Term]
id: MONDO:0001611
name: phlegmonous dacryocystitis
xref: DOID:12997 {source="MONDO:equivalentTo"}
xref: ICD10:H04.31 {source="DOID:12997", source="MONDO:equivalentTo"}
xref: ICD9:375.33 {source="DOID:12997", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:64324003 {source="DOID:12997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155238 {source="DOID:12997", source="MONDO:equivalentTo"}
is_a: MONDO:0004926 {source="DOID:12997", source="linkedlifedata"} ! dacryocystitis
property_value: closeMatch http://identifiers.org/snomedct/193988008
property_value: exactMatch DOID:12997
property_value: exactMatch http://identifiers.org/snomedct/64324003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155238

[Term]
id: MONDO:0001612
name: carotid stenosis
def: "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." [NCIT:P378]
synonym: "carotid artery stenosis" EXACT [NCIT:C95804]
synonym: "stenosis, carotid artery" EXACT [DOID:13001]
xref: DOID:13001 {source="MONDO:equivalentTo"}
xref: HP:0100546
xref: ICD9:433.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016893 {source="MONDO:equivalentTo", source="DOID:13001"}
xref: NCIT:C95804 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo", source="DOID:13001"}
xref: SCTID:64586002 {source="MONDO:equivalentTo", source="DOID:13001", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007282 {source="MONDO:equivalentTo", source="NCIT:C95804", source="DOID:13001"}
is_a: MONDO:0005269 {source="DOID:13001", source="MESH:D016893", source="NCIT:C95804", source="linkedlifedata", source="linkedlifedata/inferred"} ! carotid artery disease
property_value: closeMatch http://identifiers.org/snomedct/195181000
property_value: exactMatch DOID:13001
property_value: exactMatch http://identifiers.org/mesh/D016893
property_value: exactMatch http://identifiers.org/snomedct/64586002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007282
property_value: exactMatch NCIT:C95804

[Term]
id: MONDO:0001613
name: vertebrobasilar insufficiency
def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated." [MESH:D014715]
synonym: "vertebro-basilar insufficiency" EXACT [DOID:13003]
synonym: "vertebrobasilar arterial insufficiency" EXACT [DOID:13003]
synonym: "vertebrobasilar artery syndrome" EXACT [DOID:13003, ICD9CM_2006:435.3]
synonym: "vertebrobasilar insufficiency" EXACT [DOID:13003]
xref: COHD:376714 {source="MONDO:equivalentTo"}
xref: DOID:13003 {source="MONDO:equivalentTo"}
xref: EFO:1001449 {source="MONDO:equivalentTo"}
xref: ICD10:G45.0 {source="DOID:13003"}
xref: ICD9:435.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13003"}
xref: MESH:D014715 {source="MONDO:equivalentTo", source="DOID:13003"}
xref: SCTID:195199008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.82/1.09", source="DOID:13003"}
xref: UMLS:C0042568 {source="MONDO:equivalentTo", source="DOID:13003"}
is_a: MONDO:0020674 ! vascular insufficiency disorder
relationship: disease_has_feature MONDO:0005299 {source="MESH:D014715"} ! brain ischemia
relationship: excluded_subClassOf MONDO:0005264 {source="DOID:13003"} ! transient ischemic attack (disease)
property_value: closeMatch http://identifiers.org/snomedct/155404005
property_value: closeMatch http://identifiers.org/snomedct/195196001
property_value: closeMatch http://identifiers.org/snomedct/266314007
property_value: closeMatch http://identifiers.org/snomedct/394517009
property_value: exactMatch DOID:13003
property_value: exactMatch http://identifiers.org/mesh/D014715
property_value: exactMatch http://identifiers.org/snomedct/195199008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042568

[Term]
id: MONDO:0001614
name: intra-abdominal lymph node mast cell malignancy
synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [DOID:13005, ICD9CM_2006:202.63]
synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT [DOID:13005]
xref: DOID:13005 {source="MONDO:equivalentTo"}
xref: ICD9:202.63 {source="DOID:13005"}
xref: SCTID:188664008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13005"}
xref: UMLS:C0153844 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:13005"}
is_a: MONDO:0001082 {source="DOID:13005", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node cancer
property_value: exactMatch DOID:13005
property_value: exactMatch http://identifiers.org/snomedct/188664008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153844

[Term]
id: MONDO:0001615
name: epidemic keratoconjunctivitis
def: "Keratoconjunctivitis resulting from infection by adenoviruses." [NCIT:C34590]
synonym: "EKC" EXACT [DOID:13014]
synonym: "shipyard eye" EXACT [DOID:13014]
xref: COHD:378361 {source="MONDO:equivalentTo"}
xref: DOID:13014 {source="MONDO:equivalentTo"}
xref: ICD10:B30.0 {source="DOID:13014"}
xref: ICD9:077.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13014"}
xref: NCIT:C34590 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13014"}
xref: SCTID:60548004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37", source="DOID:13014"}
xref: UMLS:C0014493 {source="NCIT:C34590", source="MONDO:equivalentTo", source="DOID:13014"}
is_a: MONDO:0004768 {source="DOID:13014", source="MONDOLEX:0001615", source="NCIT:C34590", source="linkedlifedata"} ! keratoconjunctivitis
is_a: MONDO:0023865 ! corneal infection
is_a: MONDO:0043479 ! adenoviridae infectious disease
is_a: MONDO:0043541 ! viral conjunctivitis
property_value: exactMatch DOID:13014
property_value: exactMatch http://identifiers.org/snomedct/60548004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014493
property_value: exactMatch NCIT:C34590

[Term]
id: MONDO:0001616
name: lobomycosis
def: "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." [MESH:D060368]
synonym: "cutaneous blastomycosis" RELATED [DOID:13026]
synonym: "cutaneous lobomycosis" EXACT [DOID:13026]
synonym: "infection by Loboa loboi" EXACT [DOID:13026, MTHICD9_2006:116.2]
xref: DOID:13026 {source="MONDO:equivalentTo"}
xref: EFO:1001805 {source="MONDO:equivalentTo"}
xref: ICD10:B48.0 {source="MONDO:equivalentTo", source="DOID:13026"}
xref: ICD9:116.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13026"}
xref: MESH:D060368 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13026"}
xref: SCTID:47306003 {source="MONDO:equivalentTo", source="DOID:13026", source="MONDO:kboom-pr-0.89/0.76/0.21"}
xref: UMLS:C0152066 {source="MONDO:equivalentTo", source="DOID:13026"}
is_a: MONDO:0002040 {source="DOID:13026", source="MESH:D060368"} ! dermatomycosis
property_value: closeMatch http://identifiers.org/snomedct/240749000
property_value: exactMatch DOID:13026
property_value: exactMatch http://identifiers.org/mesh/D060368
property_value: exactMatch http://identifiers.org/snomedct/47306003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152066

[Term]
id: MONDO:0001617
name: transient global amnesia (disease)
def: "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." [NCIT:P378]
synonym: "transient global amnesia" EXACT [MONDO:ambiguous]
xref: COHD:437306 {source="MONDO:equivalentTo"}
xref: DOID:13027 {source="MONDO:equivalentTo"}
xref: GARD:0008172 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0010534 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G45.4 {source="MONDO:equivalentTo", source="DOID:13027"}
xref: ICD9:437.7 {source="DOID:13027"}
xref: MESH:D020236 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13027"}
xref: NCIT:C85198 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13027"}
is_a: MONDO:0001152 {source="DOID:13027"} ! amnestic disorder
property_value: closeMatch http://identifiers.org/snomedct/195202003
property_value: closeMatch http://identifiers.org/snomedct/230736007
property_value: closeMatch http://identifiers.org/snomedct/366963000
property_value: closeMatch http://identifiers.org/snomedct/367187006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338591
property_value: exactMatch DOID:13027
property_value: exactMatch http://identifiers.org/mesh/D020236
property_value: exactMatch NCIT:C85198

[Term]
id: MONDO:0001618
name: balanoposthitis
xref: COHD:436466 {source="MONDO:equivalentTo"}
xref: DOID:13031 {source="MONDO:equivalentTo"}
xref: ICD10:N47.6 {source="DOID:13031", source="MONDO:equivalentTo"}
xref: ICD9:607.1 {source="DOID:13031"}
xref: SCTID:46090001 {source="DOID:13031", source="MONDO:equivalentTo"}
xref: UMLS:C0004691 {source="DOID:13031", source="MONDO:equivalentTo"}
is_a: MONDO:0006672 ! balanitis
is_a: MONDO:0021164 ! posthitis
property_value: closeMatch http://identifiers.org/snomedct/198020004
property_value: closeMatch http://identifiers.org/snomedct/198024008
property_value: exactMatch DOID:13031
property_value: exactMatch http://identifiers.org/snomedct/46090001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004691

[Term]
id: MONDO:0001619
name: obsolete relapsing fever
is_obsolete: true
replaced_by: MONDO:0019633

[Term]
id: MONDO:0001620
name: louse-borne relapsing fever
def: "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." [NCIT:C128426]
synonym: "Relapsing fever, louse-borne" EXACT [DOID:13035, ICD9CM_2006:087.0]
xref: COHD:443908 {source="MONDO:equivalentTo"}
xref: DOID:13035 {source="MONDO:equivalentTo"}
xref: ICD10:A68.0 {source="MONDO:equivalentTo", source="DOID:13035"}
xref: ICD9:087.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13035"}
xref: NCIT:C128426 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:14683004 {source="MONDO:equivalentTo", source="DOID:13035", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152061 {source="MONDO:equivalentTo", source="NCIT:C128426", source="DOID:13035"}
is_a: MONDO:0019633 {source="DOID:13035", source="ICD10:A68.0", source="linkedlifedata"} ! relapsing fever
property_value: exactMatch DOID:13035
property_value: exactMatch http://identifiers.org/snomedct/14683004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152061
property_value: exactMatch NCIT:C128426

[Term]
id: MONDO:0001621
name: tick-borne relapsing fever
def: "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." [NCIT:P378]
synonym: "Relapsing fever, tick-borne" EXACT [DOID:13036, ICD9CM_2006:087.1]
xref: COHD:438963 {source="MONDO:equivalentTo"}
xref: DOID:13036 {source="MONDO:equivalentTo"}
xref: ICD10:A68.1 {source="MONDO:equivalentTo", source="DOID:13036"}
xref: ICD9:087.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13036"}
xref: NCIT:C34976 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:13036"}
xref: SCTID:10301003 {source="MONDO:equivalentTo", source="DOID:13036", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035022 {source="MONDO:equivalentTo", source="NCIT:C34976", source="DOID:13036"}
is_a: MONDO:0006956 {source="NCIT:C34976"} ! Rickettsiosis
is_a: MONDO:0019633 {source="DOID:13036", source="ICD10:A68.1", source="MONDO:Redundant", source="linkedlifedata"} ! relapsing fever
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186821005
property_value: exactMatch DOID:13036
property_value: exactMatch http://identifiers.org/snomedct/10301003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035022
property_value: exactMatch NCIT:C34976

[Term]
id: MONDO:0001622
name: mechanical lagophthalmos
xref: COHD:375268 {source="MONDO:equivalentTo"}
xref: DOID:13037 {source="MONDO:equivalentTo"}
xref: ICD10:H02.22 {source="MONDO:equivalentTo", source="DOID:13037"}
xref: ICD9:374.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:13037"}
xref: SCTID:21783006 {source="MONDO:equivalentTo", source="DOID:13037", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155198 {source="MONDO:equivalentTo", source="DOID:13037"}
is_a: MONDO:0001604 {source="DOID:13037", source="linkedlifedata"} ! lagophthalmos
property_value: closeMatch http://identifiers.org/snomedct/193939008
property_value: exactMatch DOID:13037
property_value: exactMatch http://identifiers.org/snomedct/21783006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155198

[Term]
id: MONDO:0001623
name: cicatricial lagophthalmos (disease)
synonym: "cicatricial lagophthalmos" EXACT [MONDO:ambiguous]
xref: COHD:442113 {source="MONDO:equivalentTo"}
xref: DOID:13038 {source="MONDO:equivalentTo"}
xref: HP:0030004 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H02.21 {source="MONDO:equivalentTo", source="DOID:13038"}
xref: ICD9:374.23 {source="DOID:13038"}
xref: UMLS:C0155199 {source="MONDO:equivalentTo", source="DOID:13038"}
is_a: MONDO:0001604 {source="DOID:13038"} ! lagophthalmos
property_value: closeMatch http://identifiers.org/snomedct/193940005
property_value: closeMatch http://identifiers.org/snomedct/9042000
property_value: exactMatch DOID:13038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155199

[Term]
id: MONDO:0001624
name: acute sphenoidal sinusitis
def: "Acute form of sphenoid sinusitis." [MONDO:patterns/acute]
synonym: "acute sphenoid sinusitis" EXACT [MONDO:design_pattern]
synonym: "sphenoid sinusitis, acute" EXACT [MONDO:patterns/acute]
synonym: "sphenoidal sinus -acute" EXACT [DOID:13046]
xref: COHD:137900 {source="MONDO:equivalentTo"}
xref: DOID:13046 {source="MONDO:equivalentTo"}
xref: ICD10:J01.3 {source="MONDO:equivalentTo", source="DOID:13046"}
xref: ICD10:J01.30 {source="DOID:13046"}
xref: ICD9:461.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13046"}
xref: SCTID:77919000 {source="MONDO:equivalentTo", source="DOID:13046", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155807 {source="MONDO:equivalentTo", source="DOID:13046"}
is_a: MONDO:0005964 {source="DOID:13046", source="MONDO:Redundant", source="MONDOLEX:0001624", source="linkedlifedata"} ! sphenoid sinusitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155501004
property_value: closeMatch http://identifiers.org/snomedct/266378004
property_value: exactMatch DOID:13046
property_value: exactMatch http://identifiers.org/snomedct/77919000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155807

[Term]
id: MONDO:0001625
name: corpus luteum cyst
def: "A ovarian cyst (disease) that involves the corpus luteum." [MONDO:patterns/location]
synonym: "corpus luteum ovarian cyst (disease)" EXACT [MONDO:patterns/location]
synonym: "ovarian cyst (disease) of corpus luteum" EXACT []
xref: COHD:436164 {source="MONDO:equivalentTo"}
xref: DOID:13050 {source="MONDO:equivalentTo"}
xref: ICD10:N83.1 {source="MONDO:equivalentTo"}
xref: ICD9:620.1 {source="MONDO:relatedTo", source="DOID:13050", source="i2s"}
xref: SCTID:386762009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003282 {source="DOID:13050", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! ovarian cyst (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156361
property_value: exactMatch DOID:13050
property_value: exactMatch http://identifiers.org/snomedct/386762009

[Term]
id: MONDO:0001626
name: traumatic glaucoma
synonym: "glaucoma associated with ocular trauma" EXACT [DOID:13060, ICD9CM_2006:365.65]
xref: COHD:440396 {source="MONDO:equivalentTo"}
xref: DOID:13060 {source="MONDO:equivalentTo"}
xref: ICD9:365.65 {source="DOID:13060", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:68241007 {source="DOID:13060", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339594 {source="DOID:13060", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:13060", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease)
property_value: exactMatch DOID:13060
property_value: exactMatch http://identifiers.org/snomedct/68241007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339594

[Term]
id: MONDO:0001627
name: dementia (disease)
def: "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." [NCIT:P378]
synonym: "dementia" EXACT [NCIT:C4786]
xref: COHD:4182210 {source="MONDO:equivalentTo"}
xref: DOID:1307 {source="MONDO:equivalentTo"}
xref: GARD:0011946 {source="MONDO:equivalentTo"}
xref: ICD9:290.8 {source="DOID:1307"}
xref: ICD9:294.1 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:294.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003704 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4786 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:52448006 {source="MONDO:kboom-pr-1.00/0.84/14.53", source="MONDO:equivalentTo"}
is_a: MONDO:0002039 {source="DOID:1307", source="MESH:D003704", source="MONDO:Redundant", source="NCIT:C4786"} ! cognitive disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154319
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0497327
property_value: exactMatch DOID:1307
property_value: exactMatch http://identifiers.org/mesh/D003704
property_value: exactMatch http://identifiers.org/snomedct/52448006
property_value: exactMatch NCIT:C4786

[Term]
id: MONDO:0001628
name: tinea unguium
def: "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." [MESH:D014009]
synonym: "cellulitis and abscess" RELATED [DOID:13074]
synonym: "cellulitis and abscess of buttock" EXACT [DOID:13074, ICD9CM_2006:682.5]
synonym: "cellulitis and abscess of face" EXACT [DOID:13074]
synonym: "cellulitis and abscess of finger" EXACT [DOID:13074]
synonym: "cellulitis and abscess of finger and toe" EXACT [DOID:13074]
synonym: "cellulitis and abscess of gluteal region" EXACT [DOID:13074]
synonym: "cellulitis and abscess of trunk" EXACT [DOID:13074]
synonym: "cellulitis and abscess of upper arm and forearm" EXACT [DOID:13074]
synonym: "dermatophytic onychia" EXACT [DOID:13074, MTHICD9_2006:110.1]
synonym: "dermatophytic onychomycosis" EXACT [DOID:13074]
synonym: "dermatophytosis of nail" EXACT [DOID:13074, ICD9CM_2006:110.1]
synonym: "nail dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "onychomycosis" EXACT [NCIT:C112214]
synonym: "onychomycosis due to dermatophyte" EXACT [DOID:13074]
synonym: "tinea unguium" EXACT [DOID:13074]
xref: DOID:13074 {source="MONDO:equivalentTo"}
xref: ICD10:B35.1 {source="MONDO:equivalentTo"}
xref: ICD9:681.9 {source="DOID:13074"}
xref: MESH:D014009 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C112214 {source="MONDO:equivalentTo"}
xref: UMLS:C0040261 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="NCIT:C112214"}
xref: UMLS:C0157690 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0157691 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0157696 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0157698 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0157701 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C4082762 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004678 {source="DOID:13074", source="ICD10:B35.1", source="MONDO:Entailed", source="MONDO:Redundant"} ! dermatophytosis
is_a: MONDO:0024487 ! nail infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007644
property_value: exactMatch DOID:13074
property_value: exactMatch http://identifiers.org/mesh/D014009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082762
property_value: exactMatch NCIT:C112214

[Term]
id: MONDO:0001629
name: Jaccoud syndrome
synonym: "Jaccoud syndrome" EXACT [DOID:13080]
synonym: "Jaccoud's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: COHD:72994 {source="MONDO:equivalentTo"}
xref: DOID:13080 {source="MONDO:equivalentTo"}
xref: ICD10:M12.0 {source="DOID:13080"}
xref: ICD10:M12.00 {source="DOID:13080"}
xref: ICD9:714.4 {source="DOID:13080", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:84801008 {source="DOID:13080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152084 {source="DOID:13080", source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:13080"} ! autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/123247007
property_value: exactMatch DOID:13080
property_value: exactMatch http://identifiers.org/snomedct/84801008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152084

[Term]
id: MONDO:0001630
name: branch retinal artery occlusion
def: "An occlusion of a branch of the retinal artery." [NCIT:P378]
comment: Editor note: see https://github.com/obophenotype/human-phenotype-ontology/issues/4266
synonym: "arterial retinal branch occlusion" EXACT [DOID:13094]
synonym: "retinal arterial branch occlusion" EXACT [DOID:13094, ICD9CM_2006:362.32, NCIT:C34436]
xref: COHD:437544 {source="MONDO:equivalentTo"}
xref: DOID:13094 {source="MONDO:equivalentTo"}
xref: ICD10:H34.23 {source="DOID:13094"}
xref: ICD9:362.32 {source="DOID:13094", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34436 {source="DOID:13094", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:50821009 {source="DOID:13094", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0006123 {source="DOID:13094", source="MONDO:equivalentTo", source="NCIT:C34436"}
is_a: MONDO:0006948 {source="DOID:13094", source="NCIT:C34436", source="linkedlifedata"} ! retinal artery occlusion
property_value: exactMatch DOID:13094
property_value: exactMatch http://identifiers.org/snomedct/50821009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006123
property_value: exactMatch NCIT:C34436

[Term]
id: MONDO:0001631
name: vertebral artery insufficiency
def: "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." [NCIT:C35123]
synonym: "vertebral artery syndrome" EXACT [DOID:13095, ICD9CM_2006:435.1, NCIT:C35123]
xref: COHD:434656 {source="MONDO:equivalentTo"}
xref: DOID:13095 {source="MONDO:equivalentTo"}
xref: ICD9:435.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35123 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:34781003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042560 {source="DOID:13095", source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0002254 {source="DOID:13095", source="MONDO:Redundant", source="MONDOLEX:0001631", source="NCIT:C35123"} ! syndromic disease
is_a: MONDO:0005264 {source="DOID:13095"} ! transient ischemic attack (disease)
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931914
property_value: exactMatch DOID:13095
property_value: exactMatch http://identifiers.org/snomedct/34781003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042560
property_value: exactMatch NCIT:C35123

[Term]
id: MONDO:0001632
name: intracranial arteriosclerosis
def: "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." [MESH:D002537]
xref: DOID:13097 {source="MONDO:equivalentTo"}
xref: MESH:D002537 {source="DOID:13097", source="MONDO:equivalentTo"}
xref: UMLS:C0007771 {source="DOID:13097", source="MONDO:equivalentTo"}
is_a: MONDO:0002277 {source="DOID:13097", source="MESH:D002537"} ! arteriosclerosis disorder
property_value: exactMatch DOID:13097
property_value: exactMatch http://identifiers.org/mesh/D002537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007771

[Term]
id: MONDO:0001633
name: central retinal artery occlusion
def: "Blockage of the central retinal artery." [NCIT:P378]
synonym: "central retinal arterial occlusion" EXACT [NCIT:C34456]
xref: COHD:437540 {source="MONDO:equivalentTo"}
xref: DOID:13098 {source="MONDO:equivalentTo"}
xref: ICD10:H34.1 {source="MONDO:equivalentTo", source="DOID:13098"}
xref: ICD9:362.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:13098"}
xref: NCIT:C34456 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13098"}
xref: SCTID:38742007 {source="MONDO:equivalentTo", source="DOID:13098", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0007688 {source="MONDO:equivalentTo", source="DOID:13098", source="NCIT:C34456"}
is_a: MONDO:0005269 ! carotid artery disease
is_a: MONDO:0006948 {source="DOID:13098", source="NCIT:C34456", source="linkedlifedata"} ! retinal artery occlusion
is_a: MONDO:0020673 ! arterial occlusion
property_value: exactMatch DOID:13098
property_value: exactMatch http://identifiers.org/snomedct/38742007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007688
property_value: exactMatch NCIT:C34456

[Term]
id: MONDO:0001634
name: bladder leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6178]
synonym: "bladder leiomyoma" EXACT [NCIT:C6178]
synonym: "leiomyoma of bladder" EXACT [NCIT:C6178]
synonym: "leiomyoma of the bladder" EXACT [NCIT:C6178]
synonym: "leiomyoma of the urinary bladder" EXACT [DOID:13109, NCIT:C6178]
synonym: "leiomyoma of urinary bladder" EXACT [NCIT:C6178]
synonym: "urinary bladder leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6178]
xref: DOID:13109 {source="MONDO:equivalentTo"}
xref: NCIT:C6178 {source="DOID:13109", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332560 {source="DOID:13109", source="NCIT:C6178", source="MONDO:equivalentTo"}
is_a: MONDO:0000384 {source="DOID:13109", source="MONDO:Redundant", source="NCIT:C6178"} ! bladder benign neoplasm
is_a: MONDO:0001572 {source="DOID:13109", source="MONDO:Redundant", source="NCIT:C6178"} ! leiomyoma
property_value: exactMatch DOID:13109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332560
property_value: exactMatch NCIT:C6178

[Term]
id: MONDO:0001635
name: bladder squamous papilloma
def: "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." [NCIT:C39834]
synonym: "bladder squamous papilloma" EXACT [NCIT:C39834]
xref: DOID:13110 {source="MONDO:equivalentTo"}
xref: NCIT:C39834 {source="MONDO:equivalentTo", source="DOID:13110", source="exact-label-match"}
xref: UMLS:C1511199 {source="MONDO:equivalentTo", source="DOID:13110", source="NCIT:C39834"}
is_a: MONDO:0000384 {source="DOID:13110", source="NCIT:C39834"} ! bladder benign neoplasm
is_a: MONDO:0001825 {source="MONDOLEX:0001635", source="NCIT:C39834"} ! squamous papilloma
property_value: exactMatch DOID:13110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511199
property_value: exactMatch NCIT:C39834

[Term]
id: MONDO:0001636
name: mechanical entropion
xref: COHD:376418 {source="MONDO:equivalentTo"}
xref: DOID:13112 {source="MONDO:equivalentTo"}
xref: ICD9:374.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:13112"}
xref: SCTID:38683003 {source="MONDO:equivalentTo", source="DOID:13112", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155189 {source="MONDO:equivalentTo", source="DOID:13112"}
is_a: MONDO:0001519 {source="DOID:13112", source="linkedlifedata"} ! entropion (disease)
property_value: exactMatch DOID:13112
property_value: exactMatch http://identifiers.org/snomedct/38683003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155189

[Term]
id: MONDO:0001637
name: cicatricial entropion
xref: COHD:374650 {source="MONDO:equivalentTo"}
xref: DOID:13113 {source="MONDO:equivalentTo"}
xref: ICD9:374.04 {source="MONDO:equivalentTo", source="i2s", source="DOID:13113"}
xref: SCTID:67383002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13113"}
xref: UMLS:C0155191 {source="MONDO:equivalentTo", source="DOID:13113"}
is_a: MONDO:0001519 {source="DOID:13113", source="linkedlifedata"} ! entropion (disease)
property_value: exactMatch DOID:13113
property_value: exactMatch http://identifiers.org/snomedct/67383002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155191

[Term]
id: MONDO:0001638
name: protein-deficiency anemia
synonym: "anemia due to protein deficiency" EXACT [DOID:13120]
xref: COHD:436083 {source="MONDO:equivalentTo"}
xref: DOID:13120 {source="MONDO:equivalentTo"}
xref: ICD10:D53.0 {source="MONDO:equivalentTo", source="DOID:13120"}
xref: ICD9:281.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:13120"}
xref: SCTID:191156009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:13120"}
xref: UMLS:C0154290 {source="MONDO:equivalentTo", source="DOID:13120"}
is_a: MONDO:0001639 {source="DOID:13120", source="MONDOLEX:0001638", source="linkedlifedata"} ! deficiency anemia
property_value: closeMatch http://identifiers.org/snomedct/191159002
property_value: closeMatch http://identifiers.org/snomedct/85746008
property_value: exactMatch DOID:13120
property_value: exactMatch http://identifiers.org/snomedct/191156009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154290

[Term]
id: MONDO:0001639
name: deficiency anemia
synonym: "deficiency anemias" EXACT [DOID:13121]
synonym: "unspecified deficiency anemia" EXACT [DOID:13121, ICD9CM_2006:281.9]
xref: DOID:13121 {source="MONDO:equivalentTo"}
xref: ICD9:281.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:281.9 {source="MONDO:equivalentTo", source="DOID:13121", source="i2s"}
xref: SCTID:267513007 {source="MONDO:kboom-pr-1.00/0.91/29.02", source="MONDO:equivalentTo", source="DOID:13121"}
xref: UMLS:C0041782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:13121"}
is_a: MONDO:0002280 {source="DOID:13121", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/191125001
property_value: closeMatch http://identifiers.org/snomedct/191168000
property_value: exactMatch DOID:13121
property_value: exactMatch http://identifiers.org/snomedct/267513007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041782

[Term]
id: MONDO:0001640
name: gonococcal spondylitis
def: "An spondylitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:13127 {source="MONDO:equivalentTo"}
xref: ICD9:098.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:13127"}
xref: SCTID:53664003 {source="MONDO:equivalentTo", source="DOID:13127", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153219 {source="MONDO:equivalentTo", source="DOID:13127"}
is_a: MONDO:0003937 {source="DOID:13127", source="MONDO:Redundant", source="linkedlifedata"} ! spondylitis
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata"} ! gonorrhea
property_value: closeMatch http://identifiers.org/snomedct/186929006
property_value: exactMatch DOID:13127
property_value: exactMatch http://identifiers.org/snomedct/53664003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153219

[Term]
id: MONDO:0001641
name: severe pre-eclampsia
def: "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." [NCIT:P378]
synonym: "antepartum severe pre-eclampsia" EXACT [DOID:13129]
synonym: "postpartum severe pre-eclampsia" EXACT [DOID:13129]
synonym: "Preeclampsia with severe features" EXACT [NCIT:C112843]
synonym: "severe pre-eclampsia, with delivery" EXACT [DOID:13129]
synonym: "severe preeclampsia" EXACT [DOID:13129]
xref: COHD:433536 {source="MONDO:equivalentTo"}
xref: DOID:13129 {source="MONDO:equivalentTo"}
xref: ICD9:642.50 {source="DOID:13129"}
xref: NCIT:C112843 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.09"}
is_a: MONDO:0005081 {source="DOID:13129", source="MONDOLEX:0001641", source="NCIT:C112843"} ! preeclampsia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156669
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0341950
property_value: exactMatch DOID:13129
property_value: exactMatch NCIT:C112843

[Term]
id: MONDO:0001642
name: hordeolum externum
def: "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "external stye" EXACT [DOID:13134]
xref: DOID:13134 {source="MONDO:equivalentTo"}
xref: ICD10:H00.01 {source="DOID:13134"}
xref: ICD10:H00.03 {source="DOID:13134"}
xref: ICD9:373.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:13134"}
xref: SCTID:1489008 {source="MONDO:equivalentTo", source="DOID:13134", source="MONDO:kboom-pr-0.72/0.42/0.12"}
xref: UMLS:C0019919 {source="MONDO:equivalentTo", source="DOID:13134"}
is_a: MONDO:0005800 {source="MONDO:cjm", source="MONDOLEX:0001642", source="linkedlifedata"} ! hordeolum
relationship: excluded_subClassOf MONDO:0004785 {source="DOID:13134", source="linkedlifedata"} ! blepharitis
property_value: closeMatch http://identifiers.org/snomedct/193912000
property_value: closeMatch http://identifiers.org/snomedct/193913005
property_value: closeMatch http://identifiers.org/snomedct/61523007
property_value: exactMatch DOID:13134
property_value: exactMatch http://identifiers.org/snomedct/1489008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019919

[Term]
id: MONDO:0001643
name: exophthalmic ophthalmoplegia
xref: COHD:374359 {source="MONDO:equivalentTo"}
xref: DOID:13135 {source="MONDO:equivalentTo"}
xref: ICD9:376.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:13135"}
xref: SCTID:69763009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13135"}
xref: UMLS:C0152135 {source="MONDO:equivalentTo", source="DOID:13135"}
is_a: MONDO:0001509 {source="DOID:13135"} ! endocrine exophthalmos
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0003425 {source="DOID:13135", source="MONDOLEX:0001643"} ! ophthalmoplegia
property_value: exactMatch DOID:13135
property_value: exactMatch http://identifiers.org/snomedct/69763009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152135

[Term]
id: MONDO:0001644
name: acute proliferative glomerulonephritis
def: "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus." [NCIT:C35443]
synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [DOID:13138, ICD9CM_2006:580.0]
synonym: "post-streptococcal glomerulonephritis" EXACT [NCIT:C35443]
synonym: "post-streptococcal glomerulonephritis" RELATED [NCIT:C35443]
synonym: "proliferative glomerulonephritis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:259070 {source="MONDO:equivalentTo"}
xref: DOID:13138 {source="MONDO:equivalentTo"}
xref: ICD9:580.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13138"}
xref: NCIT:C35443 {source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equivalentTo"}
xref: SCTID:197579006 {source="MONDO:equivalentTo", source="DOID:13138", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0341692 {source="MONDO:equivalentTo", source="DOID:13138"}
is_a: MONDO:0003134 {source="MONDO:Redundant", source="MONDOLEX:0001644", source="OWLReasoner:2017", source="linkedlifedata"} ! proliferative glomerulonephritis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:13138
property_value: exactMatch http://identifiers.org/snomedct/197579006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341692
property_value: exactMatch NCIT:C35443

[Term]
id: MONDO:0001645
name: crescentic glomerulonephritis (disease)
def: "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." [NCIT:P378]
synonym: "crescentic glomerulonephritis" EXACT [MONDO:ambiguous]
xref: DOID:13139 {source="MONDO:equivalentTo"}
xref: HP:0008653 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:580.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35444 {source="DOID:13139", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.19"}
xref: SCTID:236398000 {source="DOID:13139", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.41/0.83"}
is_a: MONDO:0001644 {source="DOID:13139", source="linkedlifedata"} ! acute proliferative glomerulonephritis
property_value: closeMatch http://identifiers.org/snomedct/45406000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403416
property_value: exactMatch DOID:13139
property_value: exactMatch http://identifiers.org/snomedct/236398000
property_value: exactMatch NCIT:C35444

[Term]
id: MONDO:0001646
name: benign secondary hypertension
def: "Mild to moderate high blood pressure that is caused by an underlying medical condition." [NCIT:P378]
xref: COHD:314958 {source="MONDO:equivalentTo"}
xref: DOID:13143 {source="MONDO:equivalentTo"}
xref: ICD9:405.1 {source="DOID:13143"}
xref: ICD9:405.19 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:194785008 {source="MONDO:equivalentTo", source="DOID:13143", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155620 {source="MONDO:equivalentTo", source="DOID:13143"}
is_a: MONDO:0001200 {source="DOID:13143", source="MONDOLEX:0001646", source="linkedlifedata"} ! secondary hypertension
property_value: closeMatch http://identifiers.org/snomedct/194787000
property_value: closeMatch http://identifiers.org/snomedct/44111003
property_value: exactMatch DOID:13143
property_value: exactMatch http://identifiers.org/snomedct/194785008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155620
property_value: exactMatch NCIT:C3658

[Term]
id: MONDO:0001647
name: benign renovascular hypertension
xref: DOID:13145 {source="MONDO:equivalentTo"}
xref: ICD9:405.11 {source="DOID:13145"}
is_a: MONDO:0001105 {source="DOID:13145"} ! renal hypertension
is_a: MONDO:0001646 {source="DOID:13145"} ! benign secondary hypertension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155621
property_value: exactMatch DOID:13145

[Term]
id: MONDO:0001648
name: esophageal candidiasis
def: "Esophagitis resulting from Candida." [NCIT:P378]
synonym: "Candida esophagitis" EXACT [DOID:13146, NCIT:C27027]
synonym: "candidal esophagitis" EXACT [DOID:13146, ICD9CM_2006:112.84]
synonym: "candidiasis of the esophagus" EXACT [NCIT:C27027]
synonym: "esophageal moniliasis" EXACT [DOID:13146]
synonym: "esophageal thrush" EXACT [DOID:13146]
xref: DOID:13146 {source="MONDO:equivalentTo"}
xref: ICD10:B37.81 {source="MONDO:equivalentTo", source="DOID:13146"}
xref: ICD9:112.84 {source="MONDO:equivalentTo", source="i2s", source="DOID:13146"}
xref: NCIT:C27027 {source="MONDO:equivalentTo", source="DOID:13146", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:20639004 {source="MONDO:equivalentTo", source="DOID:13146", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0239295 {source="MONDO:equivalentTo", source="NCIT:C27027", source="DOID:13146"}
is_a: MONDO:0001649 {source="NCIT:C27027"} ! fungal esophagitis
is_a: MONDO:0002026 {source="DOID:13146", source="ICD10:B37.81", source="ICD10:B37.81/inferred", source="NCIT:C27027", source="linkedlifedata"} ! candidiasis
property_value: closeMatch http://identifiers.org/snomedct/187023002
property_value: exactMatch DOID:13146
property_value: exactMatch http://identifiers.org/snomedct/20639004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239295
property_value: exactMatch NCIT:C27027

[Term]
id: MONDO:0001649
name: fungal esophagitis
def: "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." [NCIT:C27107]
synonym: "fungal esophagitis" EXACT [NCIT:C27107]
xref: DOID:13147 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27107 {source="MONDO:equivalentTo", source="DOID:13147"}
xref: SCTID:235602008 {source="MONDO:equivalentTo", source="DOID:13147", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0341109 {source="MONDO:equivalentTo", source="NCIT:C27107", source="DOID:13147"}
is_a: MONDO:0001409 {source="DOID:13147", source="MONDO:Redundant", source="NCIT:C27107"} ! esophagitis (disease)
is_a: MONDO:0002041 {source="NCIT:C27107"} ! fungal infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:13147
property_value: exactMatch http://identifiers.org/snomedct/235602008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341109
property_value: exactMatch NCIT:C27107

[Term]
id: MONDO:0001650
name: acute cystitis (disease)
def: "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." [NCIT:P378]
synonym: "acute cystitis" EXACT [MONDO:ambiguous]
synonym: "cystitis, acute" EXACT [MONDO:patterns/acute]
synonym: "urinary tract infection" EXACT EXCLUDE [DOID:13148]
xref: COHD:194081 {source="MONDO:equivalentTo"}
xref: DOID:13148 {source="MONDO:equivalentTo"}
xref: ICD10:N30.0 {source="MONDO:equivalentTo", source="DOID:13148"}
xref: ICD9:595.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13148"}
xref: NCIT:C26934 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.77/0.87", source="DOID:13148"}
xref: SCTID:68226007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.77/0.91", source="DOID:13148"}
xref: UMLS:C0149523 {source="MONDO:equivalentTo", source="NCIT:C26934", source="DOID:13148"}
is_a: MONDO:0005247 {source="https://github.com/monarch-initiative/mondo/issues/841"} ! urinary tract infection (disease)
is_a: MONDO:0006032 ! cystitis
is_a: MONDO:0020683 ! acute disease
relationship: excluded_subClassOf MONDO:0006032 {source="DOID:13148", source="MONDO:Redundant", source="NCIT:C26934/inferred", source="linkedlifedata"} ! cystitis
property_value: closeMatch http://identifiers.org/snomedct/155883005
property_value: closeMatch http://identifiers.org/snomedct/197833009
property_value: closeMatch http://identifiers.org/snomedct/266628008
property_value: exactMatch DOID:13148
property_value: exactMatch http://identifiers.org/snomedct/68226007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149523
property_value: exactMatch NCIT:C26934

[Term]
id: MONDO:0001651
name: scrotum squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." [NCIT:P378]
synonym: "scrotal squamous cell carcinoma" EXACT [DOID:13159, NCIT:C4643]
synonym: "scrotum squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of scrotum" RELATED [DOID:13159]
synonym: "squamous cell carcinoma of the scrotum" EXACT [NCIT:C4643]
xref: DOID:13159 {source="MONDO:equivalentTo"}
xref: NCIT:C4643 {source="MONDO:equivalentTo", source="DOID:13159", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:276860003 {source="MONDO:equivalentTo", source="DOID:13159", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349551 {source="MONDO:equivalentTo", source="NCIT:C4643", source="DOID:13159"}
is_a: MONDO:0002650 {source="DOID:13159", source="MONDO:Redundant", source="MONDOLEX:0001651", source="NCIT:C4643"} ! scrotal carcinoma
is_a: MONDO:0005096 {source="DOID:13159", source="MONDO:Redundant", source="MONDOLEX:0001651", source="NCIT:C4643", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma
property_value: exactMatch DOID:13159
property_value: exactMatch http://identifiers.org/snomedct/276860003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349551
property_value: exactMatch NCIT:C4643

[Term]
id: MONDO:0001652
name: scrotum melanoma
def: "A melanoma (disease) that involves the scrotum." [MONDO:patterns/location]
synonym: "melanoma (disease) of scrotum" EXACT []
synonym: "melanoma of scrotum" EXACT [DOID:13160, NCIT:C7361]
synonym: "melanoma of the scrotum" EXACT [NCIT:C7361]
synonym: "scrotal melanoma" EXACT [NCIT:C7361]
synonym: "scrotum melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:13160 {source="MONDO:equivalentTo"}
xref: NCIT:C7361 {source="DOID:13160", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.63"}
xref: UMLS:C1331544 {source="DOID:13160", source="MONDO:equivalentTo", source="NCIT:C7361"}
is_a: MONDO:0003319 {source="DOID:13160", source="MONDO:Redundant", source="NCIT:C7361/inferred"} ! scrotum neoplasm
is_a: MONDO:0005105 {source="DOID:13160", source="MONDO:Redundant", source="NCIT:C7361/inferred"} ! melanoma (disease)
property_value: exactMatch DOID:13160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331544
property_value: exactMatch NCIT:C7361

[Term]
id: MONDO:0001653
name: prepuce cancer
def: "A malignant neoplasm involving the prepuce." [MONDO:DesignPattern]
synonym: "cancer of prepuce" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of foreskin" EXACT [DOID:13168, MTHICD9_2006:187.1]
synonym: "malignant neoplasm of prepuce" EXACT [MONDO:patterns/cancer]
synonym: "malignant prepuce neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of foreskin" EXACT [DOID:13168]
synonym: "prepuce cancer" EXACT [MONDO:patterns/location]
xref: DOID:13168 {source="MONDO:equivalentTo"}
xref: ICD10:C60.0 {source="DOID:13168"}
xref: ICD9:187.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13168"}
xref: SCTID:363450006 {source="MONDO:equivalentTo", source="DOID:13168", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153598 {source="MONDO:equivalentTo", source="DOID:13168"}
is_a: MONDO:0002149 ! reproductive system cancer
is_a: MONDO:0002898 {source="DOID:13168", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer
property_value: closeMatch http://identifiers.org/snomedct/93805009
property_value: exactMatch DOID:13168
property_value: exactMatch http://identifiers.org/snomedct/363450006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153598

[Term]
id: MONDO:0001654
name: spermatic cord cancer
def: "A malignant neoplasm involving the spermatic cord." [MONDO:DesignPattern]
synonym: "cancer of spermatic cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of spermatic cord" EXACT [MONDO:patterns/cancer, NCIT:C3559]
synonym: "malignant neoplasm of the spermatic cord" EXACT [NCIT:C3559]
synonym: "malignant spermatic cord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant spermatic cord tumor" EXACT [NCIT:C3559]
synonym: "malignant tumor of spermatic cord" EXACT [NCIT:C3559]
synonym: "malignant tumor of the spermatic cord" EXACT [DOID:13169, NCIT:C3559]
synonym: "spermatic cord Ca" EXACT [DOID:13169]
synonym: "spermatic cord cancer" EXACT [MONDO:patterns/location]
xref: DOID:13169 {source="MONDO:equivalentTo"}
xref: ICD10:C63.1 {source="DOID:13169"}
xref: ICD9:187.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:13169"}
xref: NCIT:C3559 {source="MONDO:equivalentTo", source="DOID:13169", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:363453008 {source="MONDO:equivalentTo", source="DOID:13169", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153603 {source="MONDO:equivalentTo", source="DOID:13169", source="NCIT:C3559"}
is_a: MONDO:0005836 {source="DOID:13169", source="MONDO:Redundant", source="NCIT:C3559"} ! male reproductive organ cancer
property_value: closeMatch http://identifiers.org/snomedct/154537000
property_value: closeMatch http://identifiers.org/snomedct/269606007
property_value: closeMatch http://identifiers.org/snomedct/94065000
property_value: exactMatch DOID:13169
property_value: exactMatch http://identifiers.org/snomedct/363453008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153603
property_value: exactMatch NCIT:C3559

[Term]
id: MONDO:0001655
name: dissociated nystagmus
synonym: "dissociated nystagmus" EXACT [DOID:13174, ICD9CM_2006:379.55]
xref: DOID:13174 {source="MONDO:equivalentTo"}
xref: ICD10:H55.04 {source="DOID:13174", source="MONDO:equivalentTo"}
xref: ICD9:379.55 {source="DOID:13174", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:9520006 {source="DOID:13174", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155380 {source="DOID:13174", source="MONDO:equivalentTo"}
is_a: MONDO:0004843 {source="DOID:13174"} ! pathologic nystagmus
property_value: exactMatch DOID:13174
property_value: exactMatch http://identifiers.org/snomedct/9520006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155380

[Term]
id: MONDO:0001656
name: megaesophagus
def: "An abnormal dilation of the esophagus not due to obstruction." [NCIT:P378]
xref: DOID:13186 {source="MONDO:equivalentTo"}
xref: NCIT:C34811 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13186"}
xref: SCTID:70667005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13186"}
xref: UMLS:C0025164 {source="MONDO:equivalentTo", source="DOID:13186", source="NCIT:C34811"}
is_a: MONDO:0003749 {source="DOID:13186", source="NCIT:C34811/inferred", source="linkedlifedata/inferred"} ! esophageal disease
property_value: closeMatch http://identifiers.org/mesh/D004931
property_value: exactMatch DOID:13186
property_value: exactMatch http://identifiers.org/snomedct/70667005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025164
property_value: exactMatch NCIT:C34811

[Term]
id: MONDO:0001657
name: brain cancer
def: "A primary or metastatic malignant neoplasm affecting the brain." [NCIT:C3568]
synonym: "adult brain tumor" NARROW [DOID:1319]
synonym: "adult malignant brain neoplasm" NARROW [DOID:1319]
synonym: "brain cancer" EXACT [MONDO:patterns/location, NCIT:C3568]
synonym: "brain neoplasm" BROAD [CSP2005:2006-2736, DOID:1319]
synonym: "brain neoplasm, adult" RELATED [DOID:1319, NCIT:C7710]
synonym: "brain neoplasms, malignant" EXACT [NCIT:C3568]
synonym: "brain tumor, adult" RELATED [GARD:0009307]
synonym: "BT - brain tumour" RELATED [DOID:1319]
synonym: "cancer of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "cancer of the brain" EXACT [NCIT:C3568]
synonym: "malignant brain neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "malignant brain tumor" EXACT [NCIT:C3568]
synonym: "malignant brain tumour" EXACT [DOID:1319]
synonym: "malignant neoplasm of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "malignant neoplasm of the brain" EXACT [NCIT:C3568]
synonym: "malignant primary brain neoplasm" NARROW [DOID:1319, NCIT:C4954]
synonym: "malignant primary brain tumor" NARROW [DOID:1319]
synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115]
synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568]
synonym: "malignant tumor of the brain" EXACT [NCIT:C3568]
synonym: "neoplasm of brain" EXACT EXCLUDE [DOID:1319]
synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM_2006:239.6]
synonym: "primary brain neoplasm" RELATED [DOID:1319, NCIT:C4952]
synonym: "primary brain tumor" RELATED [DOID:1319]
synonym: "primary malignant neoplasm of brain" EXACT [DOID:1319]
synonym: "tumor of the brain" BROAD [DOID:1319, NCIT:C2907]
xref: CSP:2006-2736 {source="DOID:1319"}
xref: DOID:1319 {source="MONDO:equivalentTo"}
xref: GARD:0009307 {source="MONDO:equivalentTo"}
xref: ICD10:C71 {source="DOID:1319"}
xref: ICD10:C71.9 {source="DOID:1319"}
xref: ICD9:191 {source="DOID:1319"}
xref: ICD9:191.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:191.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1319"}
xref: ICD9:239.6 {source="DOID:1319"}
xref: MESH:D001932 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1319"}
xref: NCIT:C3568 {source="MONDO:equivalentTo", source="DOID:1319"}
xref: SCTID:428061005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.81/0.59/0.17", source="DOID:1319"}
is_a: MONDO:0002714 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant", source="NCIT:C3568/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3568"} ! brain neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126952004
property_value: closeMatch http://identifiers.org/snomedct/154550004
property_value: closeMatch http://identifiers.org/snomedct/188279009
property_value: closeMatch http://identifiers.org/snomedct/188305001
property_value: closeMatch http://identifiers.org/snomedct/189537005
property_value: closeMatch http://identifiers.org/snomedct/254935002
property_value: closeMatch http://identifiers.org/snomedct/269610005
property_value: closeMatch http://identifiers.org/snomedct/275464006
property_value: closeMatch http://identifiers.org/snomedct/363356001
property_value: closeMatch http://identifiers.org/snomedct/93727008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006118
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153633
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220624
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750974
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750979
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334557
property_value: closeMatch NCIT:C4954
property_value: closeMatch NCIT:C5115
property_value: closeMatch NCIT:C7710
property_value: exactMatch DOID:1319
property_value: exactMatch http://identifiers.org/mesh/D001932
property_value: exactMatch http://identifiers.org/snomedct/428061005
property_value: exactMatch NCIT:C3568

[Term]
id: MONDO:0001658
name: nontoxic goiter
def: "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." [NCIT:P378]
synonym: "euthyroid goiter" EXACT [NCIT:C35271]
synonym: "goiter, non-toxic" EXACT [DOID:13195]
synonym: "goitre, non-toxic" EXACT [DOID:13195]
synonym: "goitre, non-toxic NOS" RELATED EXCLUDE [DOID:13195]
synonym: "Nodule-thyroid, non tox" EXACT [DOID:13195]
synonym: "non-toxic goiter" EXACT [NCIT:C35271]
synonym: "non-toxic goitre" EXACT [DOID:13195]
synonym: "non-toxic simple goitre" EXACT [DOID:13195]
synonym: "nontoxic goiter" EXACT [DOID:13195, NCIT:C35271]
xref: DOID:13195 {source="MONDO:equivalentTo"}
xref: ICD10:E04.0 {source="DOID:13195"}
xref: ICD10:E04.9 {source="DOID:13195"}
xref: NCIT:C35271 {source="MONDO:kboom-pr-0.95/0.87/0.92", source="MONDO:equivalentTo", source="DOID:13195"}
xref: UMLS:C0221777 {source="NCIT:C35271", source="MONDO:equivalentTo", source="DOID:13195"}
is_a: MONDO:0005397 {source="DOID:13195", source="NCIT:C35271"} ! goiter (disease)
property_value: closeMatch http://identifiers.org/snomedct/154650009
property_value: closeMatch http://identifiers.org/snomedct/154654000
property_value: closeMatch http://identifiers.org/snomedct/267463000
property_value: closeMatch http://identifiers.org/snomedct/286908001
property_value: closeMatch http://identifiers.org/snomedct/60968001
property_value: exactMatch DOID:13195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221777
property_value: exactMatch NCIT:C35271

[Term]
id: MONDO:0001660
name: proliferative diabetic retinopathy
def: "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." [NCIT:P378]
synonym: "PDR" EXACT EXCLUDE [DOID:13207]
xref: COHD:380096 {source="MONDO:equivalentTo"}
xref: DOID:13207 {source="MONDO:equivalentTo"}
xref: ICD9:362.02 {source="DOID:13207", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C84457 {source="DOID:13207", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:59276001 {source="DOID:13207", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.91"}
xref: UMLS:C0154830 {source="NCIT:C84457", source="DOID:13207", source="MONDO:equivalentTo"}
is_a: MONDO:0005266 {source="DOID:13207", source="NCIT:C84457", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetic retinopathy
property_value: closeMatch http://identifiers.org/snomedct/154679002
property_value: exactMatch DOID:13207
property_value: exactMatch http://identifiers.org/snomedct/59276001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154830
property_value: exactMatch NCIT:C84457

[Term]
id: MONDO:0001661
name: background diabetic retinopathy
def: "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." [NCIT:P378]
synonym: "non proliferative diabetic retinopathy" EXACT [DOID:13208]
synonym: "non-proliferative diabetic retinopathy" EXACT [DOID:13208, NCIT:C35668]
xref: DOID:13208 {source="MONDO:equivalentTo"}
xref: ICD9:362.01 {source="DOID:13208", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:362.03 {source="DOID:13208", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35668 {source="DOID:13208", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:390834004 {source="DOID:13208", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.39"}
xref: UMLS:C0004606 {source="DOID:13208", source="MONDO:equivalentTo", source="NCIT:C35668"}
is_a: MONDO:0005266 {source="DOID:13208", source="NCIT:C35668", source="linkedlifedata"} ! diabetic retinopathy
property_value: closeMatch http://identifiers.org/snomedct/154680004
property_value: closeMatch http://identifiers.org/snomedct/31411005
property_value: closeMatch http://identifiers.org/snomedct/390718008
property_value: exactMatch DOID:13208
property_value: exactMatch http://identifiers.org/snomedct/390834004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004606
property_value: exactMatch NCIT:C34408
property_value: exactMatch NCIT:C35668

[Term]
id: MONDO:0001662
name: right bundle branch block (disease)
synonym: "right bundle branch block" EXACT [MONDO:ambiguous]
synonym: "right bundle branch block with left posterior fascicular block" EXACT [DOID:13209]
xref: COHD:314059 {source="MONDO:equivalentTo"}
xref: DOID:13209 {source="MONDO:equivalentTo"}
xref: HP:0011712 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:426.4 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:426.51 {source="DOID:13209"}
xref: SCTID:59118001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020803 ! bundle branch block
property_value: closeMatch http://identifiers.org/snomedct/46319007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155704
property_value: exactMatch DOID:13209
property_value: exactMatch http://identifiers.org/snomedct/59118001

[Term]
id: MONDO:0001663
name: hole retinal cyst
synonym: "macular cyst or hole" EXACT [DOID:13214]
synonym: "macular cyst, hole, or pseudohole of retina" EXACT [DOID:13214, ICD9CM_2006:362.54]
synonym: "macular pseudohole retinal cyst" EXACT [DOID:13214]
xref: DOID:13214 {source="MONDO:equivalentTo"}
xref: ICD10:H35.34 {source="DOID:13214"}
xref: ICD9:362.54 {source="DOID:13214"}
xref: SCTID:1079004 {source="MONDO:equivalentTo", source="DOID:13214", source="MONDO:kboom-pr-1.00/0.80/8.78"}
xref: UMLS:C1261331 {source="MONDO:equivalentTo", source="DOID:13214"}
is_a: MONDO:0002175 {source="DOID:13214"} ! degeneration of macula and posterior pole
property_value: closeMatch http://identifiers.org/snomedct/193388002
property_value: closeMatch http://identifiers.org/snomedct/267612009
property_value: exactMatch DOID:13214
property_value: exactMatch http://identifiers.org/snomedct/1079004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261331

[Term]
id: MONDO:0001664
name: submucous uterine fibroid
synonym: "submucous leiomyoma of uterus" EXACT [DOID:13222, ICD9CM_2006:218.0]
xref: COHD:195769 {source="MONDO:equivalentTo"}
xref: DOID:13222 {source="MONDO:equivalentTo"}
xref: ICD10:D25.0 {source="MONDO:equivalentTo", source="DOID:13222"}
xref: ICD9:218.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13222"}
xref: SCTID:95279007 {source="MONDO:equivalentTo", source="DOID:13222", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153993 {source="MONDO:equivalentTo", source="DOID:13222"}
is_a: MONDO:0007886 {source="DOID:13222", source="MONDOLEX:0001664", source="linkedlifedata"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13222
property_value: exactMatch http://identifiers.org/snomedct/95279007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153993

[Term]
id: MONDO:0001665
name: oculoglandular tularemia
def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear." [DOID:13226, http://www.cdc.gov/tularemia/signssymptoms/]
xref: DOID:13226 {source="MONDO:equivalentTo"}
xref: ICD10:A21.1 {source="MONDO:equivalentTo", source="DOID:13226"}
xref: ICD9:021.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13226"}
xref: SCTID:73363000 {source="MONDO:equivalentTo", source="DOID:13226", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152944 {source="MONDO:equivalentTo", source="DOID:13226"}
is_a: MONDO:0018077 {source="DOID:13226", source="ICD10:A21.1", source="linkedlifedata", source="linkedlifedata/inferred"} ! tularemia
property_value: exactMatch DOID:13226
property_value: exactMatch http://identifiers.org/snomedct/73363000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152944

[Term]
id: MONDO:0001666
name: retinal dystrophies primarily involving Bruch's membrane
def: "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." [PMID:19747980]
comment: Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping
synonym: "Bruch's membrane inherited retinal dystrophy" EXACT [MONDO:patterns/location]
synonym: "inherited retinal dystrophy of Bruch's membrane" EXACT []
synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [DOID:13227]
xref: DOID:13227 {source="MONDO:equivalentTo"}
xref: ICD9:362.77 {source="DOID:13227", source="MONDO:equivalentTo"}
is_a: MONDO:0001898 ! optic choroid disease
is_a: MONDO:0019118 ! inherited retinal dystrophy
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154866
property_value: exactMatch DOID:13227

[Term]
id: MONDO:0001667
name: streptobacillus infectious disease
synonym: "infection caused by streptobacillus" EXACT []
synonym: "streptobacillus infection" RELATED []
xref: SCTID:721738002 {source="MONDO:equivalentTo"}
xref: UMLS:C0947939 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MONDO:cjm", source="linkedlifedata"} ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/snomedct/721738002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0947939

[Term]
id: MONDO:0001668
name: internal pathological resorption of tooth
synonym: "internal granuloma of pulp" RELATED []
synonym: "internal pathologic resorption" EXACT []
synonym: "internal pathological resorption" RELATED [DOID:13239]
synonym: "internal resorption of crown of tooth" RELATED []
synonym: "internal resorption of tooth" EXACT []
synonym: "pathological tooth resorption - internal" RELATED []
synonym: "pink spot lesion of tooth" RELATED []
synonym: "pink tooth of mummery" RELATED []
xref: DOID:13239 {source="MONDO:equivalentTo"}
xref: ICD9:521.41 {source="DOID:13239"}
xref: SCTID:52994003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001670 {source="DOID:13239", source="linkedlifedata"} ! tooth resorption
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456167
property_value: exactMatch DOID:13239
property_value: exactMatch http://identifiers.org/snomedct/52994003

[Term]
id: MONDO:0001669
name: obsolete lung cancer
is_obsolete: true
replaced_by: MONDO:0008903

[Term]
id: MONDO:0001670
name: tooth resorption
def: "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" [MESH:D014091]
xref: DOID:13240 {source="MONDO:equivalentTo"}
xref: ICD10:K03.3 {source="DOID:13240"}
xref: ICD9:521.4 {source="DOID:13240"}
xref: MESH:D014091 {source="DOID:13240", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70931000 {source="DOID:13240", source="MONDO:equivalentTo"}
xref: UMLS:C0040451 {source="DOID:13240", source="MONDO:equivalentTo"}
is_a: MONDO:0002220 {source="DOID:13240"} ! tooth hard tissue disease
property_value: closeMatch http://identifiers.org/snomedct/196316003
property_value: exactMatch DOID:13240
property_value: exactMatch http://identifiers.org/mesh/D014091
property_value: exactMatch http://identifiers.org/snomedct/70931000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040451

[Term]
id: MONDO:0001671
name: mucocele of appendix
def: "Accumulation of mucus within the appendix." [NCIT:P378]
synonym: "appendiceal mucocele" EXACT [NCIT:C3241]
synonym: "Appendicele mucocele" EXACT [DOID:13248, NCIT:C3241]
synonym: "mucocele of the appendix" EXACT [NCIT:C3241]
xref: DOID:13248 {source="MONDO:equivalentTo"}
xref: ICD9:543.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3241 {source="MONDO:Finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13248"}
xref: SCTID:53773002 {source="MONDO:equivalentTo", source="DOID:13248", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026684 {source="NCIT:C3241", source="MONDO:equivalentTo", source="DOID:13248"}
is_a: MONDO:0005020 {source="DOID:13248", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease
property_value: exactMatch DOID:13248
property_value: exactMatch http://identifiers.org/snomedct/53773002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026684
property_value: exactMatch NCIT:C3241

[Term]
id: MONDO:0001672
name: bronchus cancer
def: "A malignant neoplasm involving the bronchus" [MONDO:DesignPattern]
synonym: "bronchus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of bronchus" EXACT [MONDO:patterns/cancer]
synonym: "malignant bronchus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bronchus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bronchus and lung" NARROW [DOID:1325]
synonym: "malignant neoplasm of bronchus and lung, unspecified" NARROW [DOID:1325, ICD9CM_2006:162.9]
synonym: "malignant neoplasm of bronchus or lung" RELATED [DOID:1325]
xref: DOID:1325 {source="MONDO:equivalentTo"}
xref: ICD10:C34 {source="DOID:1325"}
xref: ICD10:C34.9 {source="DOID:1325"}
xref: ICD9:162.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s", source="DOID:1325"}
xref: SCTID:363493006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer
is_a: MONDO:0002807 {source="MONDO:Redundant", source="linkedlifedata"} ! bronchial neoplasm (disease)
is_a: MONDO:0003274 ! thoracic cancer
property_value: closeMatch http://identifiers.org/snomedct/187875007
property_value: closeMatch http://identifiers.org/snomedct/190092003
property_value: closeMatch http://identifiers.org/snomedct/269465004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348343
property_value: exactMatch DOID:1325
property_value: exactMatch http://identifiers.org/snomedct/363493006

[Term]
id: MONDO:0001673
name: diarrheal disease
def: "The condition of having at least three loose or liquid bowel movements each day." [https://en.wikipedia.org/wiki/Diarrhea]
synonym: "diarrhea" EXACT [DOID:13250]
synonym: "diarrhea of presumed infectious origin" RELATED [DOID:13250]
synonym: "diarrheal disease" EXACT []
synonym: "diarrheal disorder" EXACT []
synonym: "diarrhoea" EXACT [DOID:13250]
synonym: "frequent stools" EXACT [NCIT:C2987]
synonym: "loose stools" EXACT [NCIT:C2987]
xref: COHD:196523 {source="MONDO:equivalentTo"}
xref: DOID:13250 {source="MONDO:equivalentTo"}
xref: HP:0002014 {source="MONDO:otherHierarchy"}
xref: ICD9:009.2 {source="DOID:13250"}
xref: MESH:D003967 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13250", source="MONDO:ontobio"}
xref: NCIT:C2987 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:128333008 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 {source="DOID:13250", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! digestive system disease
property_value: closeMatch http://identifiers.org/snomedct/154268000
property_value: closeMatch http://identifiers.org/snomedct/154279005
property_value: closeMatch http://identifiers.org/snomedct/186165000
property_value: closeMatch http://identifiers.org/snomedct/186167008
property_value: closeMatch http://identifiers.org/snomedct/236076004
property_value: closeMatch http://identifiers.org/snomedct/266173000
property_value: closeMatch http://identifiers.org/snomedct/266180003
property_value: exactMatch DOID:13250
property_value: exactMatch http://identifiers.org/mesh/D003967
property_value: exactMatch http://identifiers.org/snomedct/128333008
property_value: exactMatch NCIT:C2987

[Term]
id: MONDO:0001674
name: diverticulitis of colon
def: "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." [MESH:D004239]
synonym: "colon diverticulitis" EXACT [MONDO:patterns/location]
synonym: "colonic diverticular disease" EXACT [DOID:13254]
xref: COHD:77025 {source="MONDO:equivalentTo"}
xref: DOID:13254 {source="MONDO:equivalentTo"}
xref: ICD9:562.11 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:562.12 {source="DOID:13254"}
xref: MESH:D004239 {source="MONDO:equivalentTo", source="DOID:13254"}
xref: SCTID:111359004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0012814 {source="MONDO:equivalentTo"}
is_a: MONDO:0003409 {source="DOID:13254", source="MESH:D004239/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease
is_a: MONDO:0004235 {source="DOID:13254", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! diverticulitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156168
property_value: exactMatch DOID:13254
property_value: exactMatch http://identifiers.org/mesh/D004239
property_value: exactMatch http://identifiers.org/snomedct/111359004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012814

[Term]
id: MONDO:0001675
name: obsolete porphyria
is_obsolete: true
replaced_by: MONDO:0019142

[Term]
id: MONDO:0001676
name: erythropoietic protoporphyria
def: "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." [NCIT:P378]
synonym: "EPP" EXACT EXCLUDE [DOID:13270]
synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [CSP2005:1849-7560, DOID:13270]
synonym: "protoporphyria" EXACT [DOID:13270, MTHICD9_2006:277.1]
xref: DOID:13270 {source="MONDO:equivalentTo"}
xref: ICD10:E80.0 {source="DOID:13270"}
xref: MESH:D046351 {source="DOID:13270", source="MONDO:equivalentTo"}
xref: OMIMPS:177000 {source="MONDO:equivalentTo"}
xref: SCTID:51022005 {source="MONDO:kboom-pr-0.82/0.62/0.09", source="DOID:13270", source="MONDO:equivalentTo"}
is_a: MONDO:0002520 {source="DOID:13270", source="MESH:D046351"} ! acute hepatic porphyria
property_value: exactMatch DOID:13270
property_value: exactMatch http://identifiers.org/mesh/D046351
property_value: exactMatch http://identifiers.org/snomedct/51022005

[Term]
id: MONDO:0001677
name: obsolete Rift valley fever
is_obsolete: true
replaced_by: MONDO:0017880

[Term]
id: MONDO:0001678
name: intestinal tuberculosis
def: "A tuberculosis that involves the intestine." [MONDO:patterns/location]
synonym: "intestine tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of intestine" EXACT [DOID:13282]
xref: DOID:13282 {source="MONDO:equivalentTo"}
xref: ICD9:014.8 {source="DOID:13282"}
xref: ICD9:014.80 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:60136008 {source="MONDO:kboom-pr-0.91/0.80/0.24", source="MONDO:equivalentTo"}
xref: UMLS:C0275911 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002269 ! gastroenteritis
is_a: MONDO:0005768 {source="DOID:13282", source="MONDO:Redundant"} ! gastrointestinal tuberculosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152724
property_value: exactMatch DOID:13282
property_value: exactMatch http://identifiers.org/snomedct/60136008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275911

[Term]
id: MONDO:0001679
name: obsolete crater-like holes of optic disc
comment: Obsolete as represents a phenotypic feature/finding (todo: add to HPO)
synonym: "crater-like optic disc holes" EXACT [DOID:13295]
xref: DOID:13295 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:377.22 {source="DOID:13295"}
property_value: closeMatch http://identifiers.org/snomedct/19148004
property_value: closeMatch http://identifiers.org/snomedct/194048008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155298
property_value: exactMatch DOID:13295
is_obsolete: true

[Term]
id: MONDO:0001680
name: vaginal mullerian papilloma
def: "A benign papilloma that arises from the vagina in infants and young women." [NCIT:C40255]
synonym: "vaginal Muellerian papilloma" EXACT [DOID:133]
synonym: "vaginal Mullerian papilloma" EXACT [NCIT:C40255]
synonym: "vaginal Müllerian papilloma" EXACT [NCIT:C40255]
xref: DOID:133 {source="MONDO:equivalentTo"}
xref: NCIT:C40255 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:133"}
xref: UMLS:C1519926 {source="MONDO:equivalentTo", source="DOID:133", source="NCIT:C40255"}
is_a: MONDO:0000647 {source="MONDO:Redundant", source="NCIT:C40255"} ! benign vaginal neoplasm
is_a: MONDO:0001704 {source="DOID:133", source="MONDO:Redundant", source="NCIT:C40255"} ! vaginal glandular neoplasm
is_a: MONDO:0021078 ! glandular papilloma
intersection_of: MONDO:0000647 {source="NCIT:C40255"} ! benign vaginal neoplasm
intersection_of: MONDO:0001704 {source="NCIT:C40255"} ! vaginal glandular neoplasm
intersection_of: MONDO:0002363 {source="NCIT:C40255"} ! papilloma
property_value: exactMatch DOID:133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519926
property_value: exactMatch NCIT:C40255

[Term]
id: MONDO:0001681
name: diphtheritic cystitis
def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." [DOID:13306, http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, PMID:18889690]
xref: DOID:13306 {source="MONDO:equivalentTo"}
xref: ICD10:A36.85 {source="DOID:13306", source="MONDO:equivalentTo"}
xref: ICD9:032.84 {source="DOID:13306", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:48278001 {source="DOID:13306", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152954 {source="DOID:13306", source="MONDO:equivalentTo"}
is_a: MONDO:0006032 {source="DOID:13306", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis
property_value: closeMatch http://identifiers.org/snomedct/197847008
property_value: exactMatch DOID:13306
property_value: exactMatch http://identifiers.org/snomedct/48278001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152954

[Term]
id: MONDO:0001682
name: diphtheritic peritonitis
def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." [DOID:13310, http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false]
xref: DOID:13310 {source="MONDO:equivalentTo"}
xref: ICD10:A36.89 {source="DOID:13310"}
xref: ICD9:032.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:13310"}
xref: SCTID:13596001 {source="MONDO:kboom-pr-1.00/0.84/13.86", source="MONDO:equivalentTo", source="DOID:13310"}
xref: UMLS:C0152953 {source="MONDO:equivalentTo", source="DOID:13310"}
is_a: MONDO:0004522 {source="DOID:13310"} ! peritonitis
property_value: exactMatch DOID:13310
property_value: exactMatch http://identifiers.org/snomedct/13596001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152953

[Term]
id: MONDO:0001683
name: pancreatic mucinous ductal ectasia
xref: DOID:13313 {source="MONDO:equivalentTo"}
xref: NCIT:C5717 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13313"}
xref: UMLS:C1335310 {source="NCIT:C5717", source="MONDO:equivalentTo", source="DOID:13313"}
is_a: MONDO:0002356 {source="DOID:13313", source="NCIT:C5717/inferred"} ! pancreas disease
property_value: exactMatch DOID:13313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335310
property_value: exactMatch NCIT:C5717

[Term]
id: MONDO:0001684
name: exocrine pancreatic insufficiency
def: "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." [NCIT:C84316]
synonym: "exocrine pancreas insufficiency" RELATED [NCIT:C84316]
synonym: "exocrine pancreatic insufficiency" EXACT [NCIT:C84316]
synonym: "pancreatic insufficiency" RELATED [NCIT:C84316]
xref: DOID:13316 {source="MONDO:equivalentTo"}
xref: ICD10:K86.81 {source="MONDO:equivalentTo"}
xref: ICD9:577.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010188 {source="DOID:13316", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84316 {source="DOID:13316", source="MONDO:equivalentTo"}
xref: SCTID:47367009 {source="DOID:13316", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/1.96"}
xref: UMLS:C0267963 {source="DOID:13316", source="NCIT:C84316", source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="DOID:13316", source="MESH:D010188", source="NCIT:C84316/inferred", source="linkedlifedata/inferred"} ! pancreas disease
property_value: exactMatch DOID:13316
property_value: exactMatch http://identifiers.org/mesh/D010188
property_value: exactMatch http://identifiers.org/snomedct/47367009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267963
property_value: exactMatch NCIT:C84316

[Term]
id: MONDO:0001685
name: chronic follicular conjunctivitis
xref: COHD:372318 {source="MONDO:equivalentTo"}
xref: DOID:13326 {source="MONDO:equivalentTo"}
xref: ICD10:H10.43 {source="DOID:13326"}
xref: ICD9:372.12 {source="DOID:13326", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:39429002 {source="DOID:13326", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155147 {source="DOID:13326", source="MONDO:equivalentTo"}
is_a: MONDO:0002314 {source="DOID:13326", source="linkedlifedata"} ! chronic conjunctivitis
property_value: exactMatch DOID:13326
property_value: exactMatch http://identifiers.org/snomedct/39429002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155147

[Term]
id: MONDO:0001686
name: anatomical narrow angle borderline glaucoma
xref: DOID:13327 {source="MONDO:equivalentTo"}
xref: ICD9:365.02 {source="DOID:13327"}
is_a: MONDO:0004744 {source="DOID:13327", source="MONDOLEX:0001686"} ! borderline glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154941
property_value: exactMatch DOID:13327

[Term]
id: MONDO:0001687
name: diabetic cataract
synonym: "cataract - diabetic" EXACT [DOID:13328]
xref: COHD:376979 {source="MONDO:equivalentTo"}
xref: DOID:13328 {source="MONDO:equivalentTo"}
xref: ICD10:H28.0 {source="MONDO:equivalentTo"}
xref: ICD9:366.41 {source="DOID:13328", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:43959009 {source="DOID:13328", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011876 {source="DOID:13328", source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="DOID:13328", source="linkedlifedata", source="linkedlifedata/inferred"} ! cataract (disease)
property_value: closeMatch http://identifiers.org/snomedct/154678005
property_value: closeMatch http://identifiers.org/snomedct/155129005
property_value: closeMatch http://identifiers.org/snomedct/267471001
property_value: closeMatch http://identifiers.org/snomedct/267722005
property_value: exactMatch DOID:13328
property_value: exactMatch http://identifiers.org/snomedct/43959009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011876

[Term]
id: MONDO:0001688
name: toxic optic neuropathy
comment: Editor note: todo - grouping class
xref: COHD:377570 {source="MONDO:equivalentTo"}
xref: DOID:13329 {source="MONDO:equivalentTo"}
xref: ICD10:H46.3 {source="DOID:13329", source="MONDO:equivalentTo"}
xref: ICD9:377.34 {source="DOID:13329", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:26125006 {source="DOID:13329", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155303 {source="DOID:13329", source="MONDO:equivalentTo"}
is_a: MONDO:0005885 {source="DOID:13329", source="ICD10:H46.3"} ! optic neuritis
property_value: closeMatch http://identifiers.org/snomedct/194053003
property_value: exactMatch DOID:13329
property_value: exactMatch http://identifiers.org/snomedct/26125006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155303

[Term]
id: MONDO:0001689
name: hypertrophy of tongue papillae
synonym: "tongue papillary hypertrophy" EXACT [DOID:13333]
xref: COHD:432345 {source="MONDO:equivalentTo"}
xref: DOID:13333 {source="MONDO:equivalentTo"}
xref: ICD10:K14.3 {source="MONDO:equivalentTo", source="DOID:13333"}
xref: ICD9:529.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13333"}
xref: SCTID:6971002 {source="MONDO:equivalentTo", source="DOID:13333", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0392494 {source="MONDO:equivalentTo", source="DOID:13333"}
is_a: MONDO:0001165 {source="DOID:13333", source="linkedlifedata"} ! tongue disease
property_value: closeMatch http://identifiers.org/snomedct/196584007
property_value: exactMatch DOID:13333
property_value: exactMatch http://identifiers.org/snomedct/6971002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392494

[Term]
id: MONDO:0001690
name: parasitic conjunctivitis
xref: DOID:13341 {source="MONDO:equivalentTo"}
xref: ICD9:372.15 {source="MONDO:equivalentTo", source="DOID:13341", source="i2s"}
xref: SCTID:13816006 {source="MONDO:equivalentTo", source="DOID:13341", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155148 {source="MONDO:equivalentTo", source="DOID:13341"}
is_a: MONDO:0002314 {source="DOID:13341"} ! chronic conjunctivitis
property_value: exactMatch DOID:13341
property_value: exactMatch http://identifiers.org/snomedct/13816006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155148

[Term]
id: MONDO:0001691
name: laryngeal cartilage cancer
def: "A malignant neoplasm involving the laryngeal cartilage." [MONDO:DesignPattern]
synonym: "cancer of laryngeal cartilage" EXACT [MONDO:patterns/cancer]
synonym: "laryngeal cartilage cancer" EXACT [MONDO:patterns/location]
synonym: "malignant laryngeal cartilage neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of laryngeal cartilage" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of laryngeal cartilages" EXACT [DOID:13348, ICD9CM_2006:161.3]
synonym: "malignant tumor of laryngeal cartilage" EXACT [DOID:13348]
xref: DOID:13348 {source="MONDO:equivalentTo"}
xref: ICD10:C32.3 {source="DOID:13348"}
xref: ICD9:161.3 {source="DOID:13348", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363431006 {source="DOID:13348", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153486 {source="MEDGEN:kboom-pr97-c98", source="DOID:13348", source="MONDO:equivalentTo"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0002352 {source="DOID:13348", source="MONDO:Redundant", source="linkedlifedata"} ! larynx cancer
relationship: excluded_subClassOf MONDO:0002129 {source="linkedlifedata"} ! bone cancer
property_value: closeMatch http://identifiers.org/snomedct/109370001
property_value: closeMatch http://identifiers.org/snomedct/187847005
property_value: exactMatch DOID:13348
property_value: exactMatch http://identifiers.org/snomedct/363431006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153486

[Term]
id: MONDO:0001692
name: pedophilia
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children." [NCIT:P378]
synonym: "Paedophilia" EXACT [DOID:13351]
xref: DOID:13351 {source="MONDO:equivalentTo"}
xref: ICD10:F65.4 {source="MONDO:equivalentTo", source="DOID:13351"}
xref: ICD9:302.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13351"}
xref: MESH:D010378 {source="MONDO:equivalentTo", source="DOID:13351", source="MONDO:ontobio"}
xref: NCIT:C94355 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13351"}
xref: SCTID:84002002 {source="MONDO:equivalentTo", source="DOID:13351", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000596 {source="DOID:13351", source="MESH:D010378", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraphilic disorder
property_value: closeMatch http://identifiers.org/snomedct/154907002
property_value: closeMatch http://identifiers.org/snomedct/192516001
property_value: closeMatch http://identifiers.org/snomedct/268763002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030764
property_value: exactMatch DOID:13351
property_value: exactMatch http://identifiers.org/mesh/D010378
property_value: exactMatch http://identifiers.org/snomedct/84002002
property_value: exactMatch NCIT:C94355

[Term]
id: MONDO:0001693
name: ego-dystonic sexual orientation
def: "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." [DOID:13352, http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation]
xref: COHD:434903 {source="MONDO:equivalentTo"}
xref: DOID:13352 {source="MONDO:equivalentTo"}
xref: ICD9:302.0 {source="DOID:13352"}
is_a: MONDO:0001500 {source="DOID:13352"} ! gender identity disorder
property_value: closeMatch http://identifiers.org/snomedct/52813007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0233880
property_value: exactMatch DOID:13352

[Term]
id: MONDO:0001694
name: diffuse interstitial keratitis
xref: COHD:436407 {source="MONDO:equivalentTo"}
xref: DOID:13353 {source="MONDO:equivalentTo"}
xref: ICD10:H16.32 {source="DOID:13353"}
xref: ICD9:370.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13353"}
xref: SCTID:17157001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13353"}
xref: UMLS:C0155089 {source="MONDO:equivalentTo", source="DOID:13353"}
is_a: MONDO:0004902 {source="DOID:13353"} ! interstitial keratitis
property_value: closeMatch http://identifiers.org/snomedct/193785001
property_value: closeMatch http://identifiers.org/snomedct/267635007
property_value: exactMatch DOID:13353
property_value: exactMatch http://identifiers.org/snomedct/17157001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155089

[Term]
id: MONDO:0001695
name: senile ectropion
synonym: "involutional ectropion" EXACT [DOID:13356]
xref: COHD:372325 {source="MONDO:equivalentTo"}
xref: DOID:13356 {source="MONDO:equivalentTo"}
xref: ICD9:374.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:13356"}
xref: SCTID:71659009 {source="MONDO:equivalentTo", source="DOID:13356", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155193 {source="MONDO:equivalentTo", source="DOID:13356"}
is_a: MONDO:0002043 {source="DOID:13356", source="linkedlifedata"} ! ectropion (disease)
property_value: exactMatch DOID:13356
property_value: exactMatch http://identifiers.org/snomedct/71659009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155193

[Term]
id: MONDO:0001696
name: obsolete Ehlers-Danlos syndrome
is_obsolete: true
replaced_by: MONDO:0020066

[Term]
id: MONDO:0001697
name: reading disorder
def: "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." [DOID:13365, http://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29, http://en.wikipedia.org/wiki/Reading_disability]
xref: DOID:13365 {source="MONDO:equivalentTo"}
xref: ICD9:315.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:315.09 {source="DOID:13365"}
xref: SCTID:52824009 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
is_a: MONDO:0004681 {source="DOID:13365", source="linkedlifedata"} ! learning disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154631
property_value: exactMatch DOID:13365
property_value: exactMatch http://identifiers.org/snomedct/52824009

[Term]
id: MONDO:0001698
name: tinea profunda
def: "A dermatophytosis that involves the deep dermal layers." [https://www.derm-hokudai.jp/shimizu-dermatology/pdf/25-01.pdf]
synonym: "deep seated dermatophytosis" RELATED [DOID:13368, ICD9CM_2006:110.6]
synonym: "granuloma trichophyticum" EXACT [DOID:13368, MTHICD9_2006:110.6]
synonym: "Majocchi's granuloma" RELATED [DOID:13368]
xref: COHD:140654 {source="MONDO:equivalentTo"}
xref: DOID:13368 {source="MONDO:equivalentTo"}
xref: SCTID:214600002 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:13368"}
xref: UMLS:C1279621 {source="MONDO:equivalentTo", source="DOID:13368"}
is_a: MONDO:0004678 ! dermatophytosis
relationship: excluded_subClassOf MONDO:0001461 {source="DOID:13368"} ! tinea corporis
property_value: closeMatch http://identifiers.org/snomedct/186995009
property_value: closeMatch http://identifiers.org/snomedct/58950002
property_value: exactMatch DOID:13368
property_value: exactMatch http://identifiers.org/snomedct/214600002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279621

[Term]
id: MONDO:0001699
name: tinea manuum
def: "A dermatophytosis that involves the hands." [MONDO:patterns/location]
synonym: "dermatophytosis of hand" EXACT [DOID:13369, ICD9CM_2006:110.2]
synonym: "dermatophytosis of manus" EXACT [MONDO:design_pattern]
synonym: "manus dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "Tinea manus" EXACT [DOID:13369]
xref: COHD:80946 {source="MONDO:equivalentTo"}
xref: DOID:13369 {source="MONDO:equivalentTo"}
xref: ICD10:B35.2 {source="MONDO:equivalentTo", source="DOID:13369"}
xref: ICD9:110.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13369"}
xref: SCTID:48971001 {source="MONDO:equivalentTo", source="DOID:13369", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153246 {source="MONDO:equivalentTo", source="DOID:13369"}
is_a: MONDO:0004678 {source="DOID:13369", source="ICD10:B35.2", source="MONDO:Redundant", source="linkedlifedata"} ! dermatophytosis
is_a: MONDO:0044990 ! hand disease
property_value: exactMatch DOID:13369
property_value: exactMatch http://identifiers.org/snomedct/48971001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153246

[Term]
id: MONDO:0001700
name: megaloblastic anemia (disease)
def: "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." [NCIT:P378]
synonym: "Grasbeck-Imerslund syndrome" EXACT [DOID:13382]
synonym: "IGS" RELATED [DOID:13382]
synonym: "Imerslund-Grasbeck syndrome" EXACT EXCLUDE [DOID:13382]
synonym: "megaloblastic anemia" EXACT [MONDO:ambiguous]
synonym: "MGA1 Norwegian type" EXACT [DOID:13382]
synonym: "recessive hereditary megaloblastic anemia 1" EXACT [DOID:13382]
synonym: "RH-MGA1" EXACT [DOID:13382]
xref: COHD:435789 {source="MONDO:equivalentTo"}
xref: DOID:13382 {source="MONDO:equivalentTo"}
xref: HP:0001889 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D53.1 {source="DOID:13382"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34382 {source="MONDO:equivalentTo", source="DOID:13382", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:53165003 {source="MONDO:kboom-pr-0.88/0.75/0.15", source="MONDO:equivalentTo", source="DOID:13382"}
xref: UMLS:C0002888 {source="NCIT:C34382", source="MONDO:equivalentTo", source="DOID:13382"}
is_a: MONDO:0002281 {source="DOID:13382", source="NCIT:C34382", source="linkedlifedata"} ! macrocytic anemia (disease)
property_value: closeMatch http://identifiers.org/mesh/D000749
property_value: closeMatch http://identifiers.org/snomedct/154788000
property_value: closeMatch http://identifiers.org/snomedct/154792007
property_value: closeMatch http://identifiers.org/snomedct/191138009
property_value: closeMatch http://identifiers.org/snomedct/191165002
property_value: closeMatch http://identifiers.org/snomedct/191166001
property_value: closeMatch http://identifiers.org/snomedct/234357005
property_value: closeMatch http://identifiers.org/snomedct/267554004
property_value: exactMatch DOID:13382
property_value: exactMatch http://identifiers.org/snomedct/53165003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002888
property_value: exactMatch NCIT:C34382

[Term]
id: MONDO:0001701
name: gastrointestinal anthrax
def: "An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite." [DOID:13386, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous, http://www.springerlink.com/content/g3575hwr232l4411/]
xref: DOID:13386 {source="MONDO:equivalentTo"}
xref: ICD10:A22.2 {source="MONDO:equivalentTo", source="DOID:13386"}
xref: ICD9:022.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13386"}
xref: MESH:C571911 {source="MONDO:equivalentTo", source="DOID:13386", source="MONDO:ontobio"}
xref: SCTID:111798006 {source="MONDO:equivalentTo", source="DOID:13386", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152945 {source="MONDO:equivalentTo", source="DOID:13386"}
is_a: MONDO:0005119 {source="DOID:13386", source="MESH:C571911", source="MONDO:Redundant", source="linkedlifedata"} ! anthrax infection
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186302005
property_value: exactMatch DOID:13386
property_value: exactMatch http://identifiers.org/mesh/C571911
property_value: exactMatch http://identifiers.org/snomedct/111798006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152945

[Term]
id: MONDO:0001702
name: labia majora carcinoma
def: "A carcinoma that arises from the labia majora." [NCIT:C9363]
synonym: "carcinoma of labia majora" EXACT [DOID:13389, NCIT:C9363]
synonym: "carcinoma of labium majora" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the labia majora" EXACT [NCIT:C9363]
synonym: "labia majora cancer" EXACT [DOID:13389, NCIT:C9363]
synonym: "labia majora carcinoma" EXACT [NCIT:C9363]
synonym: "labium majora carcinoma" EXACT []
xref: DOID:13389 {source="MONDO:equivalentTo"}
xref: NCIT:C9363 {source="MONDO:equivalentTo", source="DOID:13389", source="exact-label-match"}
xref: UMLS:C1334356 {source="MONDO:equivalentTo", source="DOID:13389", source="NCIT:C9363"}
is_a: MONDO:0001403 {source="DOID:13389", source="MONDO:Redundant", source="NCIT:C9363"} ! labium majus cancer
is_a: MONDO:0002656 {source="DOID:13389", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
is_a: MONDO:0005215 {source="DOID:13389", source="MONDO:Redundant", source="NCIT:C9363"} ! vulvar carcinoma
property_value: exactMatch DOID:13389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334356
property_value: exactMatch NCIT:C9363

[Term]
id: MONDO:0001703
name: color vision disorder
def: "The absence of or defect in the perception of colors." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:98658"}
synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE]
synonym: "color blindness" RELATED [DOID:13399]
synonym: "color vision defects" EXACT [NCIT:C3891]
synonym: "color vision deficiency" EXACT [NCIT:C3891]
synonym: "color-vision disease" EXACT [MONDO:0020239]
synonym: "colour blindness" EXACT [DOID:13399]
synonym: "colour vision deficiency" EXACT [DOID:13399]
xref: DOID:13399 {source="MONDO:equivalentTo"}
xref: ICD10:H53.5 {source="Orphanet:98658", source="ORDO:98658/attributed", source="ORDO:98658/ntbt", source="DOID:13399"}
xref: ICD10:H53.50 {source="DOID:13399"}
xref: ICD9:368.5 {source="DOID:13399"}
xref: ICD9:368.59 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3891 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:13399"}
xref: Orphanet:98658 {source="MONDO:equivalentTo"}
xref: SCTID:193683001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76", source="DOID:13399"}
xref: UMLS:C0009398 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0242225 {source="NCIT:C3891", source="MONDO:equivalentTo", source="DOID:13399"}
xref: UMLS:CN207064 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001941 {source="DOID:13399", source="NCIT:C3891"} ! blindness (disorder)
relationship: excluded_subClassOf MONDO:0001941 {source="NCIT:C3891"} ! blindness (disorder)
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://identifiers.org/snomedct/155143000
property_value: closeMatch http://identifiers.org/snomedct/193685008
property_value: closeMatch http://identifiers.org/snomedct/53481002
property_value: exactMatch DOID:13399
property_value: exactMatch http://identifiers.org/snomedct/193683001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207064
property_value: exactMatch NCIT:C3891
property_value: exactMatch Orphanet:98658

[Term]
id: MONDO:0001704
name: vaginal glandular neoplasm
def: "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." [NCIT:C40250]
synonym: "vagina glandular cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal glandular neoplasm" EXACT [NCIT:C40250]
synonym: "vaginal glandular tumor" EXACT [NCIT:C40250]
xref: DOID:134 {source="MONDO:equivalentTo"}
xref: NCIT:C40250 {source="MONDO:equivalentTo", source="DOID:134"}
xref: UMLS:C1519921 {source="MONDO:equivalentTo", source="NCIT:C40250", source="DOID:134"}
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C40250"} ! vaginal neoplasm
is_a: MONDO:0024276 ! glandular cell neoplasm
property_value: exactMatch DOID:134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519921
property_value: exactMatch NCIT:C40250

[Term]
id: MONDO:0001705
name: pure red-cell aplasia
def: "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." [NCIT:P378]
synonym: "PRCA" EXACT [NCIT:C34974]
synonym: "primary red cell aplasia" EXACT [DOID:1340, MTHICD9_2006:284.0]
synonym: "pure red cell aplasia" EXACT [DOID:1340, MTHICD9_2006:284.8, NCIT:C34974]
synonym: "red cell hypoplasia" EXACT [DOID:1340]
xref: COHD:140065 {source="MONDO:equivalentTo"}
xref: DOID:1340 {source="MONDO:equivalentTo"}
xref: GARD:0007504 {source="MONDO:equivalentTo"}
xref: ICD9:284.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012010 {source="DOID:1340", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34974 {source="DOID:1340", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:50715003 {source="DOID:1340", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0034902 {source="DOID:1340", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34974"}
is_a: MONDO:0002280 {source="DOID:1340/inferred", source="MESH:D012010"} ! anemia (disease)
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1340"} ! idiopathic aplastic anemia
property_value: closeMatch http://identifiers.org/snomedct/191252000
property_value: closeMatch http://identifiers.org/snomedct/191253005
property_value: exactMatch DOID:1340
property_value: exactMatch http://identifiers.org/mesh/D012010
property_value: exactMatch http://identifiers.org/snomedct/50715003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034902
property_value: exactMatch NCIT:C34974

[Term]
id: MONDO:0001706
name: cerebral sarcoidosis
def: "Sarcoidosis of the cerebrum." [NCIT:P378]
synonym: "cerebral sarcoidosis" EXACT [DOID:13403, NCIT:C35441]
synonym: "sarcoidosis of telencephalon" EXACT [MONDO:design_pattern]
synonym: "telencephalon sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:13403 {source="MONDO:equivalentTo"}
xref: NCIT:C35441 {source="DOID:13403", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:111936002 {source="DOID:13403", source="MONDO:kboom-pr-1.00/0.91/27.16", source="MONDO:equivalentTo"}
xref: UMLS:C0398676 {source="DOID:13403", source="NCIT:C35441", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0045047 ! neurosarcoidosis
property_value: exactMatch DOID:13403
property_value: exactMatch http://identifiers.org/snomedct/111936002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398676
property_value: exactMatch NCIT:C35441

[Term]
id: MONDO:0001707
name: cardiac sarcoidosis
def: "Sarcoidosis affecting the tissues of the heart." [NCIT:P378]
synonym: "heart sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sarcoidosis of heart" EXACT [MONDO:design_pattern]
xref: DOID:13405 {source="MONDO:equivalentTo"}
xref: NCIT:C35589 {source="DOID:13405", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:75403004 {source="DOID:13405", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.93"}
xref: UMLS:C0392077 {source="DOID:13405", source="MONDO:equivalentTo", source="NCIT:C35589"}
is_a: MONDO:0016345 {source="Orphanet:797-moved"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019338 {source="DOID:13405", source="MONDO:Redundant", source="NCIT:C35589", source="linkedlifedata"} ! sarcoidosis
property_value: exactMatch DOID:13405
property_value: exactMatch http://identifiers.org/snomedct/75403004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392077
property_value: exactMatch NCIT:C35589

[Term]
id: MONDO:0001708
name: pulmonary sarcoidosis
def: "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." [NCIT:P378]
synonym: "lung sarcoidosis" EXACT [DOID:13406, MONDO:patterns/location, NCIT:C34997]
synonym: "sarcoidosis of lung" EXACT [MONDO:design_pattern]
xref: COHD:4086243 {source="MONDO:equivalentTo"}
xref: DOID:13406 {source="MONDO:equivalentTo"}
xref: ICD10:D86.0 {source="DOID:13406"}
xref: ICD9:517.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017565 {source="DOID:13406", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34997 {source="DOID:13406", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:24369008 {source="DOID:13406", source="MONDO:kboom-pr-1.00/0.84/13.94", source="MONDO:equivalentTo"}
xref: UMLS:C0036205 {source="DOID:13406", source="MONDO:equivalentTo", source="NCIT:C34997"}
is_a: MONDO:0017028 {source="Orphanet:797"} ! secondary interstitial lung disease specific to adulthood associated with a systemic disease
is_a: MONDO:0019338 {source="DOID:13406", source="MESH:D017565", source="MONDO:Redundant", source="NCIT:C34997", source="linkedlifedata"} ! sarcoidosis
property_value: closeMatch http://identifiers.org/snomedct/187230004
property_value: exactMatch DOID:13406
property_value: exactMatch http://identifiers.org/mesh/D017565
property_value: exactMatch http://identifiers.org/snomedct/24369008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036205
property_value: exactMatch NCIT:C34997

[Term]
id: MONDO:0001709
name: hypercalcemic sarcoidosis
def: "sarcoidosis with a complication of hypercalcemia." [PMID:17685088]
xref: DOID:13407 {source="MONDO:equivalentTo"}
xref: NCIT:C35807 {source="DOID:13407", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1334067 {source="NCIT:C35807", source="DOID:13407", source="MONDO:equivalentTo"}
is_a: MONDO:0019338 {source="DOID:13407", source="MONDO:Redundant", source="NCIT:C35807"} ! sarcoidosis
property_value: exactMatch DOID:13407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334067
property_value: exactMatch NCIT:C35807

[Term]
id: MONDO:0001710
name: perforation of bile duct
def: "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." [NCIT:P378]
xref: COHD:192957 {source="MONDO:equivalentTo"}
xref: DOID:13409 {source="MONDO:equivalentTo"}
xref: ICD10:K83.2 {source="MONDO:equivalentTo", source="DOID:13409"}
xref: ICD9:576.3 {source="MONDO:equivalentTo", source="DOID:13409", source="i2s"}
xref: SCTID:37439003 {source="MONDO:equivalentTo", source="DOID:13409", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156218 {source="MONDO:equivalentTo", source="DOID:13409"}
is_a: MONDO:0002887 ! bile duct disease
property_value: exactMatch DOID:13409
property_value: exactMatch http://identifiers.org/snomedct/37439003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156218
property_value: exactMatch NCIT:C78528

[Term]
id: MONDO:0001711
name: hepatic encephalopathy
def: "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease . Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." [https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy]
subset: gard_rare {source="GARD:0010452"}
synonym: "encephalopathy, hepatic" RELATED [GARD:0010452]
synonym: "Hepatoencephalopathy" RELATED [GARD:0010452]
synonym: "portal-systemic encephalopathy" EXACT [DOID:13413, MTHICD9_2006:572.2]
xref: COHD:4029488 {source="MONDO:equivalentTo"}
xref: DOID:13413 {source="MONDO:equivalentTo"}
xref: GARD:0010452 {source="MONDO:equivalentTo"}
xref: ICD10:K72 {source="DOID:13413"}
xref: ICD9:572.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13413"}
xref: MESH:D006501 {source="MONDO:equivalentTo", source="DOID:13413"}
xref: NCIT:C79596 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13413"}
xref: SCTID:13920009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.39", source="DOID:13413"}
xref: UMLS:C0019151 {source="MONDO:equivalentTo", source="NCIT:C79596", source="DOID:13413"}
is_a: MONDO:0005560 {source="DOID:13413", source="MESH:D006501/inferred", source="NCIT:C79596", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/123049003
property_value: closeMatch http://identifiers.org/snomedct/197332007
property_value: closeMatch http://identifiers.org/snomedct/449902003
property_value: exactMatch DOID:13413
property_value: exactMatch http://identifiers.org/mesh/D006501
property_value: exactMatch http://identifiers.org/snomedct/13920009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019151
property_value: exactMatch NCIT:C79596
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy xsd:anyURI {source="GARD:0010452"}

[Term]
id: MONDO:0001712
name: alexia
def: "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases." [MESH:D004411]
synonym: "acquired alexia" RELATED [MESH:D004411]
synonym: "acquired dyslexia" RELATED [DOID:13417, MESH:D004411]
synonym: "acquired global dyslexia" RELATED [MESH:D004411]
synonym: "acquired reading disabilities" RELATED [MESH:D004411]
synonym: "acquired reading disability" RELATED [MESH:D004411]
synonym: "acquired spelling dyslexia" RELATED [MESH:D004411]
synonym: "acquired Word blindness" RELATED [MESH:D004411]
synonym: "acquired Word Blindnesses" RELATED [MESH:D004411]
synonym: "alexia, acquired" RELATED [MESH:D004411]
synonym: "aphemesthaesia" EXACT [DOID:13417]
synonym: "blindness, acquired Word" RELATED [MESH:D004411]
synonym: "Blindnesses, acquired Word" RELATED [MESH:D004411]
synonym: "disabilities, acquired reading" RELATED [MESH:D004411]
synonym: "disability, acquired reading" RELATED [MESH:D004411]
synonym: "dyslexia, acquired global" RELATED [MESH:D004411]
synonym: "dyslexia, acquired spelling" RELATED [MESH:D004411]
synonym: "global dyslexia, acquired" RELATED [MESH:D004411]
synonym: "reading disabilities, acquired" RELATED [MESH:D004411]
synonym: "reading disability, acquired" RELATED [MESH:D004411]
synonym: "spelling dyslexia, acquired" RELATED [MESH:D004411]
synonym: "Word blindness, acquired" RELATED [MESH:D004411]
synonym: "Word Blindnesses, acquired" RELATED [MESH:D004411]
xref: COHD:440084 {source="MONDO:equivalentTo"}
xref: DOID:13417 {source="MONDO:equivalentTo"}
xref: ICD9:315.01 {source="DOID:13417"}
xref: MESH:D004411 {source="DOID:13417", source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="MONDO:cjm"} ! visual agnosia (disease)
is_a: MONDO:0002039 {source="MESH:D004411"} ! cognitive disorder
property_value: closeMatch http://identifiers.org/mesh/D004410
property_value: closeMatch http://identifiers.org/snomedct/158316004
property_value: closeMatch http://identifiers.org/snomedct/206985003
property_value: closeMatch http://identifiers.org/snomedct/9236007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002018
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013388
property_value: exactMatch DOID:13417
property_value: exactMatch http://identifiers.org/mesh/D004411

[Term]
id: MONDO:0001713
name: inherited aplastic anemia
def: "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." [MESH:D029502]
comment: In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency
subset: ordo_group_of_disorders {source="Orphanet:68383"}
synonym: "congenital aplastic anemia" RELATED []
synonym: "congenital hypoplastic anemia" EXACT [CSP2005:0427-0659, DOID:1342]
synonym: "constitutional aplastic anaemia" RELATED [DOID:1342]
synonym: "constitutional aplastic anemia" EXACT []
synonym: "hereditary aplastic anemia" EXACT [MONDO:patterns/hereditary]
synonym: "hypoplastic anemia - familial" RELATED []
synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383]
xref: DOID:1342 {source="MONDO:equivalentTo"}
xref: GARD:0006149 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="ORDO:68383/attributed", source="ORDO:68383/ntbt", source="Orphanet:68383"}
xref: ICD10:D61.01 {source="DOID:1342"}
xref: ICD9:284.0 {source="DOID:1342", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:284.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D029502 {source="DOID:1342", source="MONDO:equivalentTo"}
xref: Orphanet:68383 {source="MONDO:equivalentTo"}
xref: SCTID:28975000 {source="DOID:1342", source="MONDO:equivalentTo"}
xref: UMLS:C0702159 {source="DOID:1342", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0949116 {source="DOID:1342", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015909 {source="DOID:1342", source="MESH:D029502", source="MONDO:Redundant", source="Orphanet:68383", source="linkedlifedata"} ! aplastic anemia
intersection_of: MONDO:0015909 ! aplastic anemia
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1342"} ! idiopathic aplastic anemia
property_value: closeMatch http://identifiers.org/snomedct/154808006
property_value: closeMatch http://identifiers.org/snomedct/188588001
property_value: closeMatch http://identifiers.org/snomedct/191235004
property_value: closeMatch http://identifiers.org/snomedct/191236003
property_value: closeMatch http://identifiers.org/snomedct/191242004
property_value: closeMatch http://identifiers.org/snomedct/267523003
property_value: exactMatch DOID:1342
property_value: exactMatch http://identifiers.org/mesh/D029502
property_value: exactMatch http://identifiers.org/snomedct/28975000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0702159
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949116
property_value: exactMatch Orphanet:68383

[Term]
id: MONDO:0001714
name: bejel
def: "a chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum." [https://en.wikipedia.org/wiki/Nonvenereal_endemic_syphilis]
subset: gard_rare {source="GARD:0005905"}
synonym: "Dichuchwa" RELATED [GARD:0005905]
synonym: "endemic syphilis" RELATED [GARD:0005905, https://en.wikipedia.org/wiki/Nonvenereal_endemic_syphilis]
synonym: "Frenga" RELATED [GARD:0005905]
synonym: "Njovera" EXACT [DOID:13431, MTHICD9_2006:104.0]
synonym: "nonvenereal endemic syphilis" EXACT [DOID:13431, https://en.wikipedia.org/wiki/Nonvenereal_endemic_syphilis, ICD9CM_2006:104.0]
synonym: "nonvenereal syphilis" RELATED [GARD:0005905, https://en.wikipedia.org/wiki/Nonvenereal_endemic_syphilis]
synonym: "Treponema pallidum subsp. endemicum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum subsp. endemicum disease or disorder" EXACT []
synonym: "Treponema pallidum subsp. endemicum infectious disease" EXACT []
xref: DOID:13431 {source="MONDO:equivalentTo"}
xref: GARD:0005905 {source="MONDO:equivalentTo"}
xref: UMLS:C0004945 {source="MONDO:equivalentTo", source="DOID:13431"}
is_a: MONDO:0005976 ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/186978001
property_value: closeMatch http://identifiers.org/snomedct/240686008
property_value: exactMatch DOID:13431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004945
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5905/bejel xsd:anyURI {source="GARD:0005905"}

[Term]
id: MONDO:0001715
name: basilar artery occlusion
xref: COHD:437308 {source="MONDO:equivalentTo"}
xref: DOID:13446 {source="MONDO:equivalentTo"}
xref: ICD10:I65.1 {source="DOID:13446"}
xref: ICD9:433.0 {source="DOID:13446"}
xref: ICD9:433.00 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.01 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:195180004 {source="MONDO:equivalentTo", source="DOID:13446", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001258 ! vertebral artery occlusion
is_a: MONDO:0005042 ! head disease
property_value: closeMatch http://identifiers.org/snomedct/155396001
property_value: closeMatch http://identifiers.org/snomedct/78658006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265098
property_value: exactMatch DOID:13446
property_value: exactMatch http://identifiers.org/snomedct/195180004

[Term]
id: MONDO:0001716
name: corneal argyrosis
synonym: "argentous corneal deposits" EXACT [DOID:13447, ICD9CM_2006:371.16]
synonym: "argyrosis of cornea" EXACT [DOID:13447]
xref: DOID:13447 {source="MONDO:equivalentTo"}
xref: ICD10:H18.02 {source="DOID:13447"}
xref: ICD9:371.16 {source="DOID:13447", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:21328003 {source="DOID:13447", source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
xref: UMLS:C0155108 {source="DOID:13447", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:13447", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
property_value: closeMatch http://identifiers.org/snomedct/193809002
property_value: exactMatch DOID:13447
property_value: exactMatch http://identifiers.org/snomedct/21328003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155108

[Term]
id: MONDO:0001717
name: posterior corneal pigmentation
synonym: "posterior corneal pigmentations" EXACT [DOID:13448, ICD9CM_2006:371.13]
xref: DOID:13448 {source="MONDO:equivalentTo"}
xref: ICD10:H18.05 {source="DOID:13448"}
xref: ICD9:371.13 {source="DOID:13448", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:267639001 {source="DOID:13448", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155106 {source="DOID:13448", source="MONDO:equivalentTo"}
is_a: MONDO:0001308 {source="DOID:13448", source="linkedlifedata"} ! corneal deposit
property_value: closeMatch http://identifiers.org/snomedct/11293004
property_value: closeMatch http://identifiers.org/snomedct/193807000
property_value: exactMatch DOID:13448
property_value: exactMatch http://identifiers.org/snomedct/267639001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155106

[Term]
id: MONDO:0001718
name: scleritis (disease)
def: "Inflammation of the sclera." [NCIT:P378]
synonym: "scleritis" EXACT [MONDO:ambiguous]
xref: COHD:434944 {source="MONDO:equivalentTo"}
xref: DOID:13452 {source="MONDO:equivalentTo"}
xref: GARD:0012911 {source="MONDO:equivalentTo"}
xref: HP:0100532 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H15.0 {source="DOID:13452"}
xref: ICD10:H15.00 {source="DOID:13452"}
xref: ICD9:379.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:13452"}
xref: MESH:D015423 {source="MONDO:equivalentTo", source="DOID:13452", source="MONDO:ontobio"}
xref: NCIT:C119046 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13452"}
xref: SCTID:78370002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13452"}
xref: UMLS:C0036416 {source="NCIT:C119046", source="MONDO:equivalentTo", source="DOID:13452"}
is_a: MONDO:0001269 {source="DOID:13452", source="MESH:D015423", source="NCIT:C119046", source="linkedlifedata"} ! scleral disease
property_value: closeMatch http://identifiers.org/snomedct/155201000
property_value: closeMatch http://identifiers.org/snomedct/194139000
property_value: closeMatch http://identifiers.org/snomedct/194140003
property_value: exactMatch DOID:13452
property_value: exactMatch http://identifiers.org/mesh/D015423
property_value: exactMatch http://identifiers.org/snomedct/78370002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036416
property_value: exactMatch NCIT:C119046

[Term]
id: MONDO:0001719
name: gonococcal bursitis
def: "An bursitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae bursitis" EXACT []
synonym: "Neisseria gonorrhoeae caused bursitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:13453 {source="MONDO:equivalentTo"}
xref: ICD10:A54.49 {source="DOID:13453"}
xref: ICD10:M73.0 {source="MONDO:equivalentTo"}
xref: ICD9:098.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13453"}
xref: SCTID:46699001 {source="MONDO:kboom-pr-1.00/0.91/25.35", source="MONDO:equivalentTo", source="DOID:13453"}
xref: UMLS:C0153218 {source="MONDO:equivalentTo", source="DOID:13453"}
is_a: MONDO:0002471 {source="DOID:13453", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bursitis
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata"} ! gonorrhea
property_value: closeMatch http://identifiers.org/snomedct/186928003
property_value: exactMatch DOID:13453
property_value: exactMatch http://identifiers.org/snomedct/46699001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153218

[Term]
id: MONDO:0001720
name: gonococcal synovitis
def: "An synovitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "gonococcal synovitis &/or tenosynovitis" EXACT [DOID:13454]
synonym: "gonococcal synovitis and tenosynovitis" EXACT [DOID:13454, ICD9CM_2006:098.51]
synonym: "gonococcal synovitis or tenosynovitis" EXACT [DOID:13454]
xref: DOID:13454 {source="MONDO:equivalentTo"}
xref: ICD9:098.51 {source="MONDO:equivalentTo", source="i2s", source="DOID:13454"}
xref: SCTID:266138002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:13454"}
xref: UMLS:C0275662 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C0343714 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:13454"}
is_a: MONDO:0002400 {source="DOID:13454", source="MONDO:Entailed", source="MONDO:Redundant"} ! synovitis (disease)
is_a: MONDO:0041903 ! gonococcal infection of joint
property_value: closeMatch http://identifiers.org/snomedct/186927008
property_value: exactMatch DOID:13454
property_value: exactMatch http://identifiers.org/snomedct/266138002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343714

[Term]
id: MONDO:0001721
name: urethral intrinsic sphincter deficiency
synonym: "intrinsic" EXACT [DOID:13461]
synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT [DOID:13461, ICD9CM_2006:599.82]
xref: DOID:13461 {source="MONDO:equivalentTo"}
xref: ICD10:N36.42 {source="DOID:13461"}
xref: ICD9:599.82 {source="DOID:13461"}
xref: UMLS:C0375381 {source="MONDO:equivalentTo", source="DOID:13461"}
is_a: MONDO:0004184 {source="DOID:13461", source="MONDO:Entailed"} ! urethral disease
is_a: MONDO:0005218 ! muscular disease
property_value: closeMatch http://identifiers.org/snomedct/16031000119101
property_value: exactMatch DOID:13461
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0375381

[Term]
id: MONDO:0001722
name: central pterygium
xref: COHD:376411 {source="MONDO:equivalentTo"}
xref: DOID:13473 {source="MONDO:equivalentTo"}
xref: ICD9:372.43 {source="MONDO:equivalentTo", source="DOID:13473", source="i2s"}
xref: SCTID:43300008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13473"}
xref: UMLS:C0155156 {source="MONDO:equivalentTo", source="DOID:13473"}
is_a: MONDO:0001723 {source="DOID:13473"} ! progressive peripheral pterygium
property_value: closeMatch http://identifiers.org/snomedct/193882008
property_value: exactMatch DOID:13473
property_value: exactMatch http://identifiers.org/snomedct/43300008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155156

[Term]
id: MONDO:0001723
name: progressive peripheral pterygium
xref: COHD:377291 {source="MONDO:equivalentTo"}
xref: DOID:13474 {source="MONDO:equivalentTo"}
xref: ICD9:372.42 {source="MONDO:equivalentTo", source="i2s", source="DOID:13474"}
xref: SCTID:193881001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69", source="DOID:13474"}
xref: UMLS:C0155155 {source="MONDO:equivalentTo", source="DOID:13474"}
is_a: MONDO:0001055 {source="DOID:13474"} ! conjunctival pterygium
property_value: closeMatch http://identifiers.org/snomedct/48480005
property_value: exactMatch DOID:13474
property_value: exactMatch http://identifiers.org/snomedct/193881001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155155

[Term]
id: MONDO:0001724
name: supraglottis cancer
def: "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:C3545]
synonym: "Ca larynx - supraglottis" EXACT [DOID:13476]
synonym: "cancer of supraglottic part of larynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of extrinsic larynx" EXACT [DOID:13476, MTHICD9_2006:161.1]
synonym: "malignant neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of supraglottis" EXACT [DOID:13476, ICD9CM_2006:161.1, NCIT:C3545]
synonym: "malignant neoplasm of the supraglottis" EXACT [NCIT:C3545]
synonym: "malignant supraglottic neoplasm" EXACT [NCIT:C3545]
synonym: "malignant supraglottic part of larynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant supraglottic tumor" EXACT [DOID:13476, NCIT:C3545]
synonym: "malignant supraglottis neoplasm" EXACT [NCIT:C3545]
synonym: "malignant supraglottis tumor" EXACT [NCIT:C3545]
synonym: "malignant tumor of supraglottis" EXACT [NCIT:C3545]
synonym: "malignant tumor of the supraglottis" EXACT [NCIT:C3545]
synonym: "supraglottic part of larynx cancer" EXACT [MONDO:patterns/location]
xref: COHD:4092212 {source="MONDO:equivalentTo"}
xref: DOID:13476 {source="MONDO:equivalentTo"}
xref: ICD10:C32.1 {source="MONDO:equivalentTo", source="DOID:13476"}
xref: ICD9:161.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13476"}
xref: NCIT:C3545 {source="MONDO:equivalentTo", source="DOID:13476"}
xref: SCTID:187842004 {source="MONDO:equivalentTo", source="DOID:13476", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153484 {source="MONDO:equivalentTo", source="NCIT:C3545", source="DOID:13476"}
is_a: MONDO:0002352 {source="DOID:13476", source="MONDO:Redundant", source="MONDOLEX:0001724", source="NCIT:C3545", source="linkedlifedata"} ! larynx cancer
is_a: MONDO:0004427 {source="MONDO:Redundant", source="MONDOLEX:0001724", source="NCIT:C3545", source="linkedlifedata"} ! supraglottis neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154482003
property_value: closeMatch http://identifiers.org/snomedct/269558005
property_value: closeMatch http://identifiers.org/snomedct/94080006
property_value: exactMatch DOID:13476
property_value: exactMatch http://identifiers.org/snomedct/187842004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153484
property_value: exactMatch NCIT:C3545
property_value: excluded_synonym "supraglottis" xsd:string {source="DOID:13476"}

[Term]
id: MONDO:0001725
name: balanitis xerotica obliterans
def: "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis." [NCIT:P378]
synonym: "lichen Sclerosus of penis" EXACT [NCIT:C3523]
synonym: "lichen Sclerosus of the penis" EXACT [NCIT:C3523]
synonym: "penile lichen Sclerosus" EXACT [DOID:13477, NCIT:C3523]
xref: COHD:141917 {source="MONDO:equivalentTo"}
xref: DOID:13477 {source="MONDO:equivalentTo"}
xref: ICD9:607.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:13477"}
xref: NCIT:C3523 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13477"}
xref: SCTID:198033005 {source="MONDO:equivalentTo", source="DOID:13477", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152460 {source="MONDO:equivalentTo", source="NCIT:C3523", source="DOID:13477"}
is_a: MONDO:0006672 {source="DOID:13477", source="NCIT:C3523", source="linkedlifedata"} ! balanitis
property_value: closeMatch http://identifiers.org/snomedct/198028006
property_value: closeMatch http://identifiers.org/snomedct/367113004
property_value: closeMatch http://identifiers.org/snomedct/43790000
property_value: closeMatch http://identifiers.org/snomedct/700082001
property_value: exactMatch DOID:13477
property_value: exactMatch http://identifiers.org/snomedct/198033005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152460
property_value: exactMatch NCIT:C3523

[Term]
id: MONDO:0001726
name: childhood disintegrative disease
def: "A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism." [NCIT:P378]
synonym: "disintegrative psychosis" EXACT [DOID:13487]
synonym: "heller's syndrome" EXACT [DOID:13487]
synonym: "symbiotic psychosis" EXACT [DOID:13487]
xref: DOID:13487 {source="MONDO:equivalentTo"}
xref: ICD10:F84.3 {source="DOID:13487"}
xref: ICD9:299.1 {source="DOID:13487"}
xref: SCTID:61831009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.45/1.29"}
is_a: MONDO:0000594 {source="DOID:13487"} ! pervasive developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/191694008
property_value: closeMatch http://identifiers.org/snomedct/192584009
property_value: exactMatch DOID:13487
property_value: exactMatch http://identifiers.org/snomedct/61831009

[Term]
id: MONDO:0001727
name: active cochleovestibular Meniere disease
synonym: "active cochleovestibular Meniere disease" EXACT [DOID:13490]
synonym: "active cochleovestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "active Meniere's disease, cochleovestibular" EXACT [DOID:13490, ICD9CM_2006:386.01]
synonym: "cochleovestibular active Mnire's disease" EXACT [DOID:13490]
xref: DOID:13490 {source="MONDO:equivalentTo"}
xref: ICD9:386.01 {source="DOID:13490", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:194348002 {source="DOID:13490", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0155496 {source="DOID:13490", source="MONDO:equivalentTo"}
is_a: MONDO:0007972 {source="DOID:13490", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease
property_value: closeMatch http://identifiers.org/snomedct/8535002
property_value: exactMatch DOID:13490
property_value: exactMatch http://identifiers.org/snomedct/194348002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155496

[Term]
id: MONDO:0001728
name: active vestibular Meniere disease
synonym: "active Meniere's disease, vestibular" EXACT [DOID:13491, ICD9CM_2006:386.03]
synonym: "active vestibular Meniere disease" EXACT [DOID:13491]
synonym: "active vestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "vestibular active Mnire's disease" EXACT [DOID:13491]
xref: DOID:13491 {source="MONDO:equivalentTo"}
xref: ICD9:386.03 {source="DOID:13491", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:194350005 {source="DOID:13491", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0155498 {source="DOID:13491", source="MONDO:equivalentTo"}
is_a: MONDO:0007972 {source="DOID:13491", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease
property_value: closeMatch http://identifiers.org/snomedct/51003001
property_value: exactMatch DOID:13491
property_value: exactMatch http://identifiers.org/snomedct/194350005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155498

[Term]
id: MONDO:0001729
name: active cochlear Meniere disease
synonym: "active cochlear Meniere disease" EXACT [DOID:13492]
synonym: "active cochlear Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "active Meniere's disease, cochlear" EXACT [DOID:13492, ICD9CM_2006:386.02]
synonym: "cochlear active Mnire's disease" EXACT [DOID:13492]
xref: DOID:13492 {source="MONDO:equivalentTo"}
xref: ICD9:386.02 {source="MONDO:equivalentTo", source="DOID:13492", source="i2s"}
xref: SCTID:194349005 {source="MONDO:equivalentTo", source="DOID:13492", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0155497 {source="MONDO:equivalentTo", source="DOID:13492"}
is_a: MONDO:0007972 {source="DOID:13492", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease
property_value: closeMatch http://identifiers.org/snomedct/21653008
property_value: exactMatch DOID:13492
property_value: exactMatch http://identifiers.org/snomedct/194349005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155497

[Term]
id: MONDO:0001730
name: urethral syndrome
xref: COHD:196733 {source="MONDO:equivalentTo"}
xref: DOID:13498 {source="MONDO:equivalentTo"}
xref: ICD10:N34.3 {source="DOID:13498"}
xref: ICD9:597.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:13498"}
xref: SCTID:31273004 {source="MONDO:equivalentTo", source="DOID:13498", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156279 {source="MONDO:equivalentTo", source="DOID:13498"}
is_a: MONDO:0004184 {source="DOID:13498", source="linkedlifedata"} ! urethral disease
property_value: closeMatch http://identifiers.org/snomedct/155893003
property_value: closeMatch http://identifiers.org/snomedct/197906006
property_value: closeMatch http://identifiers.org/snomedct/266633007
property_value: exactMatch DOID:13498
property_value: exactMatch http://identifiers.org/snomedct/31273004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156279

[Term]
id: MONDO:0001731
name: benign vaginal mixed epithelial and mesenchymal neoplasm
def: "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." [NCIT:C40275]
synonym: "benign vaginal carcinosarcoma" RELATED [DOID:135]
synonym: "benign vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40275]
synonym: "benign vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40275]
xref: DOID:135 {source="MONDO:equivalentTo"}
xref: NCIT:C40275 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:135"}
xref: UMLS:C1511106 {source="MONDO:equivalentTo", source="NCIT:C40275", source="DOID:135"}
is_a: MONDO:0000647 {source="DOID:135", source="NCIT:C40275"} ! benign vaginal neoplasm
property_value: exactMatch DOID:135
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511106
property_value: exactMatch NCIT:C40275

[Term]
id: MONDO:0001732
name: trigonitis
def: "Inflammation of the trigone of the urinary bladder." [NCIT:P378]
synonym: "inflammation of trigone of urinary bladder" EXACT []
synonym: "trigone of urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:441615 {source="MONDO:equivalentTo"}
xref: DOID:13507 {source="MONDO:equivalentTo"}
xref: ICD10:N30.3 {source="DOID:13507", source="MONDO:equivalentTo"}
xref: ICD9:595.3 {source="DOID:13507", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C123175 {source="DOID:13507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:74445007 {source="DOID:13507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1261278 {source="DOID:13507", source="NCIT:C123175", source="MONDO:equivalentTo"}
is_a: MONDO:0006032 {source="DOID:13507", source="MONDO:Redundant", source="NCIT:C123175", source="linkedlifedata"} ! cystitis
property_value: closeMatch http://identifiers.org/snomedct/155885003
property_value: closeMatch http://identifiers.org/snomedct/197843007
property_value: closeMatch http://identifiers.org/snomedct/197844001
property_value: closeMatch http://identifiers.org/snomedct/266562000
property_value: closeMatch http://identifiers.org/snomedct/266629000
property_value: exactMatch DOID:13507
property_value: exactMatch http://identifiers.org/snomedct/74445007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261278
property_value: exactMatch NCIT:C123175

[Term]
id: MONDO:0001733
name: occlusion of tributary of retinal vein
synonym: "venous tributary (branch) occlusion of retina" EXACT [DOID:13514, ICD9CM_2006:362.36]
synonym: "venous tributary branch occlusion of retina" EXACT [DOID:13514, MTHICD9_2006:362.36]
synonym: "venous tributary occlusion of retina" EXACT [DOID:13514]
xref: DOID:13514 {source="MONDO:equivalentTo"}
xref: ICD9:362.36 {source="DOID:13514"}
is_a: MONDO:0002303 ! central retinal vein occlusion
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154842
property_value: exactMatch DOID:13514

[Term]
id: MONDO:0001734
name: tuberous sclerosis
def: "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." [NCIT:P378]
comment: Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome
subset: clingen
synonym: "adenoma sebaceum" RELATED [MESH:D014402]
synonym: "adenoma sebaceum syndrome" RELATED []
synonym: "Bourneville disease" RELATED [MESH:D014402]
synonym: "Bourneville Phacomatosis" RELATED [MESH:D014402]
synonym: "Bourneville phakomatosis" RELATED [MESH:D014402]
synonym: "Bourneville pringle disease" RELATED [MESH:D014402]
synonym: "Bourneville pringle's disease" RELATED [MESH:D014402]
synonym: "Bourneville syndrome" RELATED [MESH:D014402]
synonym: "Bourneville's disease" EXACT [DOID:13515, NCIT:C3424]
synonym: "bourneville's disease" RELATED []
synonym: "Bourneville's syndrome" RELATED [MESH:D014402]
synonym: "Bourneville-pringle disease" RELATED [MESH:D014402]
synonym: "Bourneville-pringle's disease" RELATED [MESH:D014402]
synonym: "Bourneville-Pringles disease" RELATED [MESH:D014402]
synonym: "cerebral Scleroses" RELATED [MESH:D014402]
synonym: "cerebral sclerosis" EXACT [CSP2005:0727-2535, DOID:13515]
synonym: "disease, Bourneville-pringle" RELATED [MESH:D014402]
synonym: "disease, Bourneville-pringle's" RELATED [MESH:D014402]
synonym: "Epiloia" EXACT [DOID:13515, MESH:D014402, MTHICD9_2006:759.5]
synonym: "Phacomatosis, Bourneville" RELATED [MESH:D014402]
synonym: "phakomatosis, Bourneville" RELATED [MESH:D014402]
synonym: "sclerosis Tuberosa" RELATED [MESH:D014402]
synonym: "sclerosis, cerebral" RELATED [MESH:D014402]
synonym: "sclerosis, tuberose" RELATED [MESH:D014402]
synonym: "sclerosis, tuberous" RELATED [MESH:D014402]
synonym: "syndrome, Bourneville" RELATED [MESH:D014402]
synonym: "syndrome, Bourneville's" RELATED [MESH:D014402]
synonym: "ts - tuberous sclerosis" RELATED []
synonym: "TSC" EXACT [NCIT:C3424]
synonym: "tuberose sclerosis" EXACT [DOID:13515]
synonym: "tuberous sclerosis" EXACT [DOID:13515, ICD9CM_2006:759.5]
synonym: "tuberous sclerosis Complex" RELATED [MESH:D014402]
synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424]
xref: DOID:13515 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.1 {source="DOID:13515"}
xref: ICD9:759.5 {source="DOID:13515", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014402 {source="DOID:13515", source="MONDO:equivalentTo"}
xref: NCIT:C3424 {source="DOID:13515", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/2.02"}
xref: OMIMPS:191100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:7199000 {source="DOID:13515", source="MONDO:kboom-pr-0.92/0.83/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:13515"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D014402", source="NCIT:C3424/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome
is_a: MONDO:0024237 {source="MESH:D014402"} ! inherited neurodegenerative disorder
is_a: MONDO:0042983 {source="MESH:D014402", source="NCIT:C3424", source="https://www.hopkinsmedicine.org", source="linkedlifedata"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0006499 {source="MESH:D014402"} ! hamartoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/157027006
property_value: closeMatch http://identifiers.org/snomedct/157033002
property_value: closeMatch http://identifiers.org/snomedct/268359006
property_value: exactMatch DOID:13515
property_value: exactMatch http://identifiers.org/mesh/D014402
property_value: exactMatch http://identifiers.org/snomedct/7199000
property_value: exactMatch NCIT:C3424

[Term]
id: MONDO:0001735
name: paranasal sinus disease
def: "A disease involving the paranasal sinus." [MONDO:DesignPattern]
synonym: "disease of paranasal sinus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of paranasal sinus" EXACT []
synonym: "disorder of nasal sinus" EXACT [DOID:1352]
synonym: "disorder of paranasal sinus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of paranasal sinus" RELATED [MONDO:patterns/location_top]
synonym: "paranasal sinus disease" EXACT [MONDO:patterns/location, NCIT:C26843]
synonym: "paranasal sinus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "paranasal sinus disorder" EXACT [NCIT:C26843]
synonym: "sinus disorder" EXACT [NCIT:C26843]
xref: DOID:1352 {source="MONDO:equivalentTo"}
xref: ICD9:478.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010254 {source="DOID:1352", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26843 {source="DOID:1352", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:7393007 {source="DOID:1352", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030469 {source="DOID:1352", source="MONDO:equivalentTo", source="NCIT:C26843"}
is_a: MONDO:0002436 {source="DOID:1352", source="MESH:D010254"} ! nasal disorder
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0024654 ! skull disorder
property_value: closeMatch http://identifiers.org/snomedct/195823002
property_value: exactMatch DOID:1352
property_value: exactMatch http://identifiers.org/mesh/D010254
property_value: exactMatch http://identifiers.org/snomedct/7393007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030469
property_value: exactMatch NCIT:C26843

[Term]
id: MONDO:0001736
name: neonatal infective mastitis
xref: COHD:76221 {source="MONDO:equivalentTo"}
xref: DOID:13520 {source="MONDO:equivalentTo"}
xref: ICD10:P39.0 {source="MONDO:equivalentTo", source="DOID:13520"}
xref: ICD9:771.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:13520"}
xref: SCTID:3468005 {source="MONDO:equivalentTo", source="DOID:13520", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158948 {source="MONDO:equivalentTo", source="DOID:13520"}
is_a: MONDO:0006849 {source="DOID:13520", source="MONDOLEX:0001736", source="linkedlifedata", source="linkedlifedata/inferred"} ! mastitis
property_value: exactMatch DOID:13520
property_value: exactMatch http://identifiers.org/snomedct/3468005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158948

[Term]
id: MONDO:0001737
name: tetanus neonatorum
def: "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production." [NCIT:P378]
synonym: "neonatal tetanus" EXACT [DOID:13521]
xref: DOID:13521 {source="MONDO:equivalentTo"}
xref: ICD10:A33 {source="MONDO:equivalentTo", source="DOID:13521"}
xref: ICD9:771.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13521"}
xref: NCIT:C116814 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13521"}
xref: SCTID:43424001 {source="MONDO:equivalentTo", source="DOID:13521", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343312 {source="MONDO:equivalentTo", source="DOID:13521", source="NCIT:C116814"}
is_a: MONDO:0005526 {source="DOID:13521", source="NCIT:C116814", source="linkedlifedata", source="linkedlifedata/inferred"} ! tetanus
property_value: closeMatch http://identifiers.org/snomedct/206338004
property_value: closeMatch http://identifiers.org/snomedct/206339007
property_value: exactMatch DOID:13521
property_value: exactMatch http://identifiers.org/snomedct/43424001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343312
property_value: exactMatch NCIT:C116814

[Term]
id: MONDO:0001738
name: obsolete osteopetrosis
is_obsolete: true
replaced_by: MONDO:0017198

[Term]
id: MONDO:0001739
name: purulent labyrinthitis
def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." [DOID:13534, http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh]
synonym: "acute suppurative labyrinthitis" RELATED [DOID:13534]
synonym: "bacterial labyrinthitis" EXACT [DOID:13534]
synonym: "suppurative labyrinthitis" EXACT [DOID:13534, ICD9CM_2006:386.33]
xref: DOID:13534 {source="MONDO:equivalentTo"}
xref: ICD9:386.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:13534"}
xref: SCTID:24817009 {source="MONDO:equivalentTo", source="DOID:13534", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155506 {source="MONDO:equivalentTo", source="DOID:13534"}
is_a: MONDO:0002008 {source="DOID:13534", source="DOID:13534/inferred", source="linkedlifedata"} ! labyrinthitis
property_value: exactMatch DOID:13534
property_value: exactMatch http://identifiers.org/snomedct/24817009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155506

[Term]
id: MONDO:0001740
name: cornea squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the cornea." [NCIT:P378]
synonym: "cornea epidermoid carcinoma" EXACT [NCIT:C4552]
synonym: "cornea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4552]
synonym: "corneal epidermoid carcinoma" EXACT [DOID:13538, NCIT:C4552]
synonym: "corneal squamous cell carcinoma" EXACT [NCIT:C4552]
synonym: "epidermoid carcinoma of cornea" EXACT [NCIT:C4552]
synonym: "epidermoid carcinoma of the cornea" EXACT [NCIT:C4552]
synonym: "squamous cell carcinoma of cornea" EXACT [DOID:13538, NCIT:C4552]
synonym: "squamous cell carcinoma of the cornea" EXACT [NCIT:C4552]
xref: DOID:13538 {source="MONDO:equivalentTo"}
xref: NCIT:C4552 {source="DOID:13538", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:255008003 {source="DOID:13538", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346366 {source="DOID:13538", source="MONDO:equivalentTo", source="NCIT:C4552"}
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C4552", source="OWLReasoner:2017"} ! eye carcinoma
is_a: MONDO:0003802 {source="DOID:13538", source="MONDO:Redundant", source="NCIT:C4552", source="linkedlifedata"} ! cornea cancer
is_a: MONDO:0010150 {source="MONDO:Redundant", source="linkedlifedata"} ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:13538
property_value: exactMatch http://identifiers.org/snomedct/255008003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346366
property_value: exactMatch NCIT:C4552

[Term]
id: MONDO:0001741
name: hyperparathyroidism
def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." [NCIT:C48259]
synonym: "hyperparathyroidism" EXACT [NCIT:C48259]
xref: COHD:133729 {source="MONDO:equivalentTo"}
xref: DOID:13543 {source="MONDO:equivalentTo"}
xref: EFO:0008506 {source="MONDO:equivalentTo"}
xref: ICD10:E21.3 {source="DOID:13543"}
xref: ICD9:252.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13543"}
xref: ICD9:252.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:13543"}
xref: MESH:D006961 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13543"}
xref: NCIT:C48259 {source="MONDO:equivalentTo", source="DOID:13543", source="exact-label-match"}
xref: OMIMPS:145000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:66999008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13543"}
xref: UMLS:C0020502 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C48259", source="DOID:13543"}
is_a: MONDO:0001223 {source="DOID:13543", source="EFO:0008506", source="MESH:D006961", source="NCIT:C48259", source="linkedlifedata"} ! parathyroid gland disease
property_value: closeMatch http://identifiers.org/snomedct/154696001
property_value: closeMatch http://identifiers.org/snomedct/190451000
property_value: exactMatch DOID:13543
property_value: exactMatch http://identifiers.org/mesh/D006961
property_value: exactMatch http://identifiers.org/snomedct/66999008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020502
property_value: exactMatch NCIT:C48259

[Term]
id: MONDO:0001742
name: interval angle-closure glaucoma
synonym: "angle-closure glaucoma, subacute" EXACT [DOID:13549, MTHICD9_2006:365.21]
synonym: "intermittent angle-closure glaucoma" EXACT [DOID:13549, ICD9CM_2006:365.21]
synonym: "prodromal angle closure glaucoma" EXACT [DOID:13549]
xref: COHD:437269 {source="MONDO:equivalentTo"}
xref: DOID:13549 {source="MONDO:equivalentTo"}
xref: ICD10:H40.23 {source="DOID:13549"}
xref: ICD9:365.21 {source="DOID:13549", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:65460003 {source="DOID:13549", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154945 {source="DOID:13549", source="MONDO:equivalentTo"}
is_a: MONDO:0001868 {source="DOID:13549"} ! primary angle-closure glaucoma
property_value: exactMatch DOID:13549
property_value: exactMatch http://identifiers.org/snomedct/65460003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154945

[Term]
id: MONDO:0001743
name: paranasal sinus lymphoma
def: "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type." [NCIT:C6068]
synonym: "accessory sinus lymphoma" EXACT [NCIT:C6068]
synonym: "lymphoma of accessory sinus" EXACT [DOID:1355, NCIT:C6068]
synonym: "lymphoma of paranasal sinus" EXACT [DOID:1355]
synonym: "lymphoma of the accessory sinus" EXACT [NCIT:C6068]
synonym: "lymphoma of the paranasal sinus" EXACT [NCIT:C6068]
synonym: "paranasal sinus lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary paranasal sinus lymphoma" EXACT [NCIT:C6068]
xref: DOID:1355 {source="MONDO:equivalentTo"}
xref: NCIT:C6068 {source="DOID:1355", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335339 {source="DOID:1355", source="NCIT:C6068", source="MONDO:equivalentTo"}
is_a: MONDO:0017814 ! primary bone lymphoma
is_a: MONDO:0020669 ! paranasal sinus cancer
relationship: excluded_subClassOf MONDO:0000380 {source="DOID:1355"} ! paranasal sinus carcinoma
property_value: exactMatch DOID:1355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335339
property_value: exactMatch NCIT:C6068

[Term]
id: MONDO:0001744
name: angle-closure glaucoma
def: "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." [NCIT:C34639]
synonym: "ACG - angle-closure glaucoma" EXACT [DOID:13550]
synonym: "angle closure glaucoma" EXACT [DOID:13550, MTH:NOCODE, NCIT:C34639]
synonym: "closed angle glaucoma" EXACT EXCLUDE [DOID:13550]
synonym: "Narrow cleft glaucoma" EXACT [DOID:13550]
synonym: "primary open-angle glaucoma with narrow angles" EXACT [DOID:13550]
xref: DOID:13550 {source="MONDO:equivalentTo"}
xref: MESH:D015812 {source="MONDO:equivalentTo", source="DOID:13550", source="MONDO:ontobio"}
xref: SCTID:392291006 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:13550"}
xref: UMLS:C0017605 {source="MONDO:equivalentTo", source="DOID:13550"}
is_a: MONDO:0005041 {source="DOID:13550", source="MESH:D015812", source="linkedlifedata"} ! glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/193544008
property_value: closeMatch http://identifiers.org/snomedct/270882001
property_value: exactMatch DOID:13550
property_value: exactMatch http://identifiers.org/mesh/D015812
property_value: exactMatch http://identifiers.org/snomedct/392291006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017605

[Term]
id: MONDO:0001745
name: subserous uterine fibroid
synonym: "subserous leiomyoma of uterus" EXACT [DOID:13560, ICD9CM_2006:218.2]
xref: COHD:195770 {source="MONDO:equivalentTo"}
xref: DOID:13560 {source="MONDO:equivalentTo"}
xref: ICD10:D25.2 {source="DOID:13560"}
xref: ICD9:218.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13560"}
xref: SCTID:95280005 {source="MONDO:equivalentTo", source="DOID:13560", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153995 {source="MONDO:equivalentTo", source="DOID:13560"}
is_a: MONDO:0007886 {source="DOID:13560", source="MONDOLEX:0001745", source="linkedlifedata"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13560
property_value: exactMatch http://identifiers.org/snomedct/95280005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153995

[Term]
id: MONDO:0001746
name: optic disk drusen
def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594]
synonym: "drusen of optic disc" EXACT [DOID:13561, ICD9CM_2006:377.21]
synonym: "optic nerve head drusen" EXACT [DOID:13561]
xref: COHD:436701 {source="MONDO:equivalentTo"}
xref: DOID:13561 {source="MONDO:equivalentTo"}
xref: ICD10:H47.32 {source="DOID:13561"}
xref: ICD9:377.21 {source="MONDO:equivalentTo", source="DOID:13561", source="i2s"}
xref: MESH:D015594 {source="MONDO:equivalentTo", source="DOID:13561", source="MONDO:ontobio"}
xref: SCTID:33629003 {source="MONDO:equivalentTo", source="DOID:13561", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0029128 {source="MONDO:equivalentTo", source="DOID:13561"}
is_a: MONDO:0002135 {source="DOID:13561", source="MESH:D015594", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease
property_value: exactMatch DOID:13561
property_value: exactMatch http://identifiers.org/mesh/D015594
property_value: exactMatch http://identifiers.org/snomedct/33629003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029128

[Term]
id: MONDO:0001747
name: tibial collateral ligament bursitis
xref: COHD:435626 {source="MONDO:equivalentTo"}
xref: DOID:13566 {source="MONDO:equivalentTo"}
xref: ICD9:726.62 {source="MONDO:equivalentTo", source="i2s", source="DOID:13566"}
xref: SCTID:44245003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52", source="DOID:13566"}
xref: UMLS:C0158315 {source="MONDO:equivalentTo", source="DOID:13566"}
is_a: MONDO:0002183 {source="DOID:13566"} ! enthesopathy
property_value: closeMatch http://identifiers.org/snomedct/202869006
property_value: exactMatch DOID:13566
property_value: exactMatch http://identifiers.org/snomedct/44245003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158315

[Term]
id: MONDO:0001748
name: maxillary sinus carcinoma
def: "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." [NCIT:C9332]
synonym: "cancer of maxillary sinus" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of maxillary sinus" EXACT [MONDO:patterns/carcinoma]
synonym: "malignant maxillary sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3540]
synonym: "malignant maxillary sinus tumor" EXACT [NCIT:C3540]
synonym: "malignant neoplasm of antrum" EXACT [DOID:1357, MTHICD9_2006:160.2]
synonym: "malignant neoplasm of maxillary sinus" EXACT [MONDO:patterns/cancer, NCIT:C3540]
synonym: "malignant neoplasm of the maxillary sinus" EXACT [NCIT:C3540]
synonym: "malignant tumor of maxillary sinus" EXACT [NCIT:C3540]
synonym: "malignant tumor of the maxillary sinus" EXACT [DOID:1357, NCIT:C3540]
synonym: "maxillary sinus cancer" EXACT [MONDO:patterns/location, NCIT:C9332]
synonym: "maxillary sinus carcinoma" EXACT [NCIT:C9332]
xref: DOID:1357 {source="MONDO:equivalentTo"}
xref: ICD10:C31.0 {source="DOID:1357"}
xref: ICD9:160.2 {source="DOID:1357", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3540 {source="DOID:1357", source="MONDO:equivalentTo"}
xref: NCIT:C9332 {source="DOID:1357", source="MONDO:equivalentTo"}
xref: SCTID:363425008 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="DOID:1357", source="MONDO:equivalentTo"}
is_a: MONDO:0000380 {source="DOID:1357", source="MONDO:Redundant", source="NCIT:C9332"} ! paranasal sinus carcinoma
is_a: MONDO:0002131 ! jaw cancer
is_a: MONDO:0006181 ! digestive system carcinoma
is_a: MONDO:0006850 {source="MONDO:Redundant", source="NCIT:C3540", source="NCIT:C9332/inferred", source="linkedlifedata"} ! maxillary sinus neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93889000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153476
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740487
property_value: exactMatch DOID:1357
property_value: exactMatch http://identifiers.org/snomedct/363425008
property_value: exactMatch NCIT:C3540
property_value: exactMatch NCIT:C9332

[Term]
id: MONDO:0001749
name: cortical senile cataract
def: "A senile cataract that involves the lens cortex." [MONDO:design_pattern]
synonym: "cortical senile cataract" EXACT [DOID:13574]
synonym: "lens cortex senile cataract" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "senile cataract of lens cortex" EXACT [MONDO:design_pattern]
xref: COHD:432895 {source="MONDO:equivalentTo"}
xref: DOID:13574 {source="MONDO:equivalentTo"}
xref: ICD9:366.15 {source="MONDO:equivalentTo", source="i2s", source="DOID:13574"}
xref: SCTID:78875003 {source="MONDO:equivalentTo", source="DOID:13574", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154980 {source="MONDO:equivalentTo", source="DOID:13574"}
is_a: MONDO:0004847 {source="DOID:13574", source="MONDO:Redundant", source="MONDOLEX:0001749", source="linkedlifedata"} ! senile cataract
is_a: MONDO:0045051 ! cortical cataract
property_value: closeMatch http://identifiers.org/snomedct/193588001
property_value: exactMatch DOID:13574
property_value: exactMatch http://identifiers.org/snomedct/78875003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154980

[Term]
id: MONDO:0001750
name: non-renal secondary hyperparathyroidism
xref: DOID:13575 {source="MONDO:equivalentTo"}
xref: ICD9:252.02 {source="DOID:13575"}
is_a: MONDO:0006964 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0001750"} ! secondary hyperparathyroidism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456268
property_value: exactMatch DOID:13575

[Term]
id: MONDO:0001751
name: cholestasis
def: "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." [NCIT:P378]
synonym: "bile occlusion" EXACT [CSP2005:0413-4023, DOID:13580]
synonym: "obstruction of bile duct" EXACT [DOID:13580, ICD9CM_2006:576.2]
xref: COHD:201066 {source="MONDO:equivalentTo"}
xref: DOID:13580 {source="MONDO:equivalentTo"}
xref: ICD10:K83.1 {source="DOID:13580"}
xref: ICD9:576.2 {source="MONDO:equivalentTo", source="DOID:13580", source="i2s"}
xref: MESH:D002779 {source="MONDO:equivalentTo", source="DOID:13580", source="MONDO:ontobio"}
xref: SCTID:30144000 {source="MONDO:equivalentTo", source="DOID:13580", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0008370 {source="MONDO:equivalentTo", source="DOID:13580"}
is_a: MONDO:0002887 {source="DOID:13580", source="MESH:D002779", source="linkedlifedata"} ! bile duct disease
property_value: closeMatch http://identifiers.org/snomedct/197446008
property_value: closeMatch http://identifiers.org/snomedct/197447004
property_value: closeMatch http://identifiers.org/snomedct/33688009
property_value: exactMatch DOID:13580
property_value: exactMatch http://identifiers.org/mesh/D002779
property_value: exactMatch http://identifiers.org/snomedct/30144000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008370
property_value: exactMatch NCIT:C83006

[Term]
id: MONDO:0001752
name: alveolar periostitis
def: "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" [MESH:D004368]
synonym: "alveolitis of jaw" EXACT [DOID:13585, ICD9CM_2006:526.5]
synonym: "dry socket" EXACT [DOID:13585, MTHICD9_2006:526.5]
synonym: "dry tooth socket" EXACT [DOID:13585]
synonym: "extrinsic allergic alveolitis of jaw skeleton" EXACT [MONDO:design_pattern]
synonym: "jaw skeleton extrinsic allergic alveolitis" EXACT [MONDO:patterns/location]
xref: COHD:201332 {source="MONDO:equivalentTo"}
xref: DOID:13585 {source="MONDO:equivalentTo"}
xref: ICD10:M27.3 {source="DOID:13585"}
xref: ICD9:526.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:13585"}
xref: MESH:D004368 {source="MONDO:equivalentTo", source="DOID:13585", source="MONDO:ontobio"}
xref: SCTID:61804006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:13585"}
xref: UMLS:C0013240 {source="MONDO:equivalentTo", source="DOID:13585"}
is_a: MONDO:0000777 ! gastrointestinal allergy
is_a: MONDO:0004553 {source="DOID:13585", source="MONDO:Redundant", source="MONDOLEX:0001752"} ! extrinsic allergic alveolitis
is_a: MONDO:0004934 {source="DOID:13585"} ! periostitis (disease)
is_a: MONDO:0006858 {source="MESH:D004368", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! mouth disease
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: closeMatch http://identifiers.org/snomedct/12033006
property_value: closeMatch http://identifiers.org/snomedct/196465007
property_value: closeMatch http://identifiers.org/snomedct/196466008
property_value: closeMatch http://identifiers.org/snomedct/196467004
property_value: closeMatch http://identifiers.org/snomedct/251331003
property_value: exactMatch DOID:13585
property_value: exactMatch http://identifiers.org/mesh/D004368
property_value: exactMatch http://identifiers.org/snomedct/61804006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013240

[Term]
id: MONDO:0001753
name: female infertility of uterine origin
synonym: "infertility, female, of uterine origin" EXACT [DOID:13589, ICD9CM_2006:628.3]
xref: COHD:201635 {source="MONDO:equivalentTo"}
xref: DOID:13589 {source="MONDO:equivalentTo"}
xref: ICD10:N97.2 {source="MONDO:equivalentTo", source="DOID:13589"}
xref: ICD9:628.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13589"}
xref: SCTID:26899006 {source="MONDO:equivalentTo", source="DOID:13589", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002654 {source="DOID:13589", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/156063002
property_value: closeMatch http://identifiers.org/snomedct/198458005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156416
property_value: exactMatch DOID:13589
property_value: exactMatch http://identifiers.org/snomedct/26899006

[Term]
id: MONDO:0001754
name: eclampsia
def: "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures." [NCIT:P378]
subset: gard_rare {source="GARD:0006316"}
synonym: "eclampsia in puerperium" EXACT [DOID:13593]
synonym: "eclampsia, postpartum" EXACT [DOID:13593, ICD9CM_2006:642.64]
synonym: "postpartum eclampsia" EXACT [DOID:13593]
xref: DOID:13593 {source="MONDO:equivalentTo"}
xref: GARD:0006316 {source="MONDO:equivalentTo"}
xref: ICD10:O15 {source="MONDO:equivalentTo", source="DOID:13593"}
xref: ICD10:O15.9 {source="DOID:13593"}
xref: ICD9:642.64 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004461 {source="MONDO:equivalentTo", source="DOID:13593", source="MONDO:ontobio"}
xref: NCIT:C87167 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:13593"}
xref: SCTID:303063000 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0013537 {source="MONDO:equivalentTo", source="NCIT:C87167", source="DOID:13593"}
xref: UMLS:C0156678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0045048 {source="NCIT:C87167"} ! toxemia of pregnancy
relationship: excluded_subClassOf MONDO:0005081 {source="DOID:13593"} ! preeclampsia
property_value: closeMatch http://identifiers.org/snomedct/156111007
property_value: closeMatch http://identifiers.org/snomedct/15938005
property_value: closeMatch http://identifiers.org/snomedct/198988006
property_value: closeMatch http://identifiers.org/snomedct/198989003
property_value: closeMatch http://identifiers.org/snomedct/198996001
property_value: exactMatch DOID:13593
property_value: exactMatch http://identifiers.org/mesh/D004461
property_value: exactMatch http://identifiers.org/snomedct/303063000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156678
property_value: exactMatch NCIT:C87167
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6316/eclampsia xsd:anyURI {source="GARD:0006316"}

[Term]
id: MONDO:0001755
name: obsolete vaginal carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006488

[Term]
id: MONDO:0001756
name: frontal sinus cancer
def: "A malignant neoplasm involving the frontal sinus." [MONDO:DesignPattern]
synonym: "cancer of frontal sinus" EXACT [MONDO:patterns/cancer]
synonym: "frontal sinus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant frontal sinus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant frontal sinus tumor" EXACT [NCIT:C3542]
synonym: "malignant neoplasm of frontal sinus" EXACT [DOID:1360, ICD9CM_2006:160.4, MONDO:patterns/cancer, MTH:U001261]
synonym: "malignant neoplasm of the frontal sinus" EXACT [NCIT:C3542]
synonym: "malignant tumor of frontal sinus" EXACT [NCIT:C3542]
synonym: "malignant tumor of the frontal sinus" EXACT [DOID:1360, NCIT:C3542]
xref: DOID:1360 {source="MONDO:equivalentTo"}
xref: ICD10:C31.2 {source="MONDO:equivalentTo", source="DOID:1360"}
xref: ICD9:160.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:1360"}
xref: NCIT:C3542 {source="MONDO:equivalentTo", source="DOID:1360", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:363427000 {source="MONDO:equivalentTo", source="DOID:1360", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153478 {source="MONDO:equivalentTo", source="NCIT:C3542", source="DOID:1360"}
is_a: MONDO:0000380 {source="DOID:1360", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0001757 {source="MONDO:Redundant", source="NCIT:C3542", source="linkedlifedata"} ! frontal sinus neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93808006
property_value: exactMatch DOID:1360
property_value: exactMatch http://identifiers.org/snomedct/363427000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153478
property_value: exactMatch NCIT:C3542

[Term]
id: MONDO:0001757
name: frontal sinus neoplasm
alt_id: MONDO:0021214
def: "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:P378]
synonym: "frontal sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "frontal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "neoplasm of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "neoplasm of the frontal sinus" EXACT [NCIT:C4419]
synonym: "tumor of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "tumor of the frontal sinus" EXACT [DOID:1361, NCIT:C4419]
xref: DOID:1361 {source="MONDO:equivalentTo"}
xref: NCIT:C4419 {source="DOID:1361", source="MONDO:kboom-pr-1.00/0.92/23.83", source="MONDO:equivalentTo"}
xref: SCTID:126678005 {source="DOID:1361", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345672 {source="DOID:1361", source="NCIT:C4419", source="MONDO:equivalentTo"}
is_a: MONDO:0005289 {source="DOID:1361", source="MONDO:Redundant", source="NCIT:C4419", source="linkedlifedata"} ! paranasal sinus neoplasm (disease)
property_value: exactMatch DOID:1361
property_value: exactMatch http://identifiers.org/snomedct/126678005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345672
property_value: exactMatch NCIT:C4419

[Term]
id: MONDO:0001758
name: paranasal sinus sarcoma
def: "A malignant soft tissue neoplasm that arises from the paranasal sinus." [NCIT:C6849]
synonym: "accessory sinus sarcoma" EXACT [NCIT:C6849]
synonym: "paranasal sinus sarcoma" EXACT [MONDO:patterns/location, NCIT:C6849]
synonym: "sarcoma of accessory sinus" EXACT [DOID:1362, NCIT:C6849]
synonym: "sarcoma of paranasal sinus" EXACT [MONDO:patterns/sarcoma, NCIT:C6849]
synonym: "sarcoma of the accessory sinus" EXACT [NCIT:C6849]
synonym: "sarcoma of the paranasal sinus" EXACT [NCIT:C6849]
xref: DOID:1362 {source="MONDO:equivalentTo"}
xref: NCIT:C6849 {source="DOID:1362", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335342 {source="DOID:1362", source="MONDO:equivalentTo", source="NCIT:C6849"}
is_a: MONDO:0000380 {source="DOID:1362", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0018078 {source="NCIT:C6849"} ! soft tissue sarcoma
property_value: exactMatch DOID:1362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335342
property_value: exactMatch NCIT:C6849

[Term]
id: MONDO:0001759
name: obsolete patent foramen ovale
is_obsolete: true
replaced_by: MONDO:0020439

[Term]
id: MONDO:0001760
name: photokeratitis
def: "Injury to the cornea secondary to ultraviolet light." [NCIT:P378]
synonym: "ultraviolet keratitis" EXACT [NCIT:C118750]
xref: COHD:375258 {source="MONDO:equivalentTo"}
xref: DOID:13626 {source="MONDO:equivalentTo"}
xref: ICD10:H16.13 {source="DOID:13626"}
xref: ICD9:370.24 {source="DOID:13626", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C118750 {source="DOID:13626", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:1714005 {source="DOID:13626", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155078 {source="DOID:13626", source="NCIT:C118750", source="MONDO:equivalentTo"}
is_a: MONDO:0003085 {source="DOID:13626", source="MONDO:Redundant", source="NCIT:C118750", source="linkedlifedata"} ! keratitis
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: closeMatch http://identifiers.org/snomedct/193770007
property_value: exactMatch DOID:13626
property_value: exactMatch http://identifiers.org/snomedct/1714005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155078
property_value: exactMatch NCIT:C118750

[Term]
id: MONDO:0001761
name: favism
def: "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." [NCIT:P378]
xref: DOID:13628 {source="MONDO:equivalentTo"}
xref: ICD10:D55.0 {source="DOID:13628"}
xref: MESH:D005236 {source="DOID:13628", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34607 {source="DOID:13628", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:191172001 {source="DOID:13628", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0015702 {source="NCIT:C34607", source="DOID:13628", source="MONDO:equivalentTo"}
is_a: MONDO:0005775 {source="DOID:13628", source="MESH:D005236"} ! G6PD deficiency
property_value: closeMatch http://identifiers.org/snomedct/154801000
property_value: closeMatch http://identifiers.org/snomedct/267558001
property_value: closeMatch http://identifiers.org/snomedct/76500009
property_value: exactMatch DOID:13628
property_value: exactMatch http://identifiers.org/mesh/D005236
property_value: exactMatch http://identifiers.org/snomedct/191172001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015702
property_value: exactMatch NCIT:C34607

[Term]
id: MONDO:0001762
name: dentine erosion
def: "A tooth erosion, non-bacterial that involves the dentine." [MONDO:design_pattern]
synonym: "dentine tooth erosion, non-bacterial" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tooth erosion, non-bacterial of dentine" EXACT [MONDO:design_pattern]
xref: DOID:13629 {source="MONDO:equivalentTo"}
xref: ICD9:521.32 {source="DOID:13629"}
is_a: MONDO:0002325 {source="DOID:13629", source="MONDO:Redundant"} ! tooth erosion, non-bacterial
is_a: MONDO:0003900 ! connective tissue disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456162
property_value: exactMatch DOID:13629

[Term]
id: MONDO:0001763
name: ethmoid sinus cancer
def: "A malignant neoplasm involving the ethmoid sinus." [MONDO:DesignPattern]
synonym: "cancer of ethmoid sinus" EXACT [MONDO:patterns/cancer]
synonym: "ethmoid sinus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant ethmoid sinus tumor" EXACT [NCIT:C3541]
synonym: "malignant ethmoidal sinus neoplasm" EXACT [NCIT:C3541]
synonym: "malignant ethmoidal sinus tumor" EXACT [NCIT:C3541]
synonym: "malignant neoplasm of ethmoid sinus" EXACT [MONDO:patterns/cancer, NCIT:C3541]
synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD9CM_2006:160.3]
synonym: "malignant neoplasm of the ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant neoplasm of the ethmoidal sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of ethmoidal sinus" EXACT [DOID:1363, NCIT:C3541]
synonym: "malignant tumor of the ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of the ethmoidal sinus" EXACT [NCIT:C3541]
xref: DOID:1363 {source="MONDO:equivalentTo"}
xref: ICD10:C31.1 {source="DOID:1363", source="MONDO:equivalentTo"}
xref: ICD9:160.3 {source="DOID:1363", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3541 {source="DOID:1363", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:363426009 {source="DOID:1363", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153477 {source="DOID:1363", source="MONDO:equivalentTo", source="NCIT:C3541"}
is_a: MONDO:0000380 {source="DOID:1363", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0001764 {source="MONDO:Redundant", source="NCIT:C3541", source="linkedlifedata"} ! ethmoidal sinus neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93787005
property_value: exactMatch DOID:1363
property_value: exactMatch http://identifiers.org/snomedct/363426009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153477
property_value: exactMatch NCIT:C3541

[Term]
id: MONDO:0001764
name: ethmoidal sinus neoplasm
alt_id: MONDO:0021215
def: "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4416]
synonym: "ethmoid sinus neoplasm" EXACT [NCIT:C4416]
synonym: "ethmoid sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ethmoid sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "ethmoidal sinus neoplasm" EXACT [NCIT:C4416]
synonym: "ethmoidal sinus tumor" EXACT [NCIT:C4416]
synonym: "neoplasm of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "neoplasm of ethmoidal sinus" EXACT [NCIT:C4416]
synonym: "neoplasm of the ethmoid sinus" EXACT [NCIT:C4416]
synonym: "neoplasm of the ethmoidal sinus" EXACT [NCIT:C4416]
synonym: "tumor of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "tumor of ethmoidal sinus" EXACT [DOID:1364, NCIT:C4416]
synonym: "tumor of the ethmoid sinus" EXACT [NCIT:C4416]
synonym: "tumor of the ethmoidal sinus" EXACT [NCIT:C4416]
xref: DOID:1364 {source="MONDO:equivalentTo"}
xref: NCIT:C4416 {source="DOID:1364", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:126677000 {source="DOID:1364", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345668 {source="DOID:1364", source="MONDO:equivalentTo", source="NCIT:C4416"}
is_a: MONDO:0005289 {source="DOID:1364", source="MONDO:Redundant", source="NCIT:C4416", source="linkedlifedata"} ! paranasal sinus neoplasm (disease)
property_value: exactMatch DOID:1364
property_value: exactMatch http://identifiers.org/snomedct/126677000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345668
property_value: exactMatch NCIT:C4416

[Term]
id: MONDO:0001765
name: polyneuropathy in collagen vascular disease
xref: COHD:375260 {source="MONDO:equivalentTo"}
xref: DOID:13649 {source="MONDO:equivalentTo"}
xref: ICD9:357.1 {source="DOID:13649", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:193177003 {source="DOID:13649", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154759 {source="DOID:13649", source="MONDO:equivalentTo"}
is_a: MONDO:0001824 {source="DOID:13649", source="MONDOLEX:0001765", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyneuropathy
property_value: closeMatch http://identifiers.org/snomedct/193181003
property_value: exactMatch DOID:13649
property_value: exactMatch http://identifiers.org/snomedct/193177003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154759

[Term]
id: MONDO:0001766
name: eversion of lacrimal punctum
xref: COHD:374952 {source="MONDO:equivalentTo"}
xref: DOID:13651 {source="MONDO:equivalentTo"}
xref: ICD10:H04.52 {source="DOID:13651"}
xref: ICD9:375.51 {source="MONDO:equivalentTo", source="i2s", source="DOID:13651"}
xref: SCTID:28244003 {source="MONDO:equivalentTo", source="DOID:13651", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155243 {source="MONDO:equivalentTo", source="DOID:13651"}
is_a: MONDO:0001854 {source="DOID:13651", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
property_value: exactMatch DOID:13651
property_value: exactMatch http://identifiers.org/snomedct/28244003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155243

[Term]
id: MONDO:0001767
name: stenosis of lacrimal punctum
xref: COHD:440404 {source="MONDO:equivalentTo"}
xref: DOID:13653 {source="MONDO:equivalentTo"}
xref: ICD10:H04.56 {source="DOID:13653"}
xref: ICD9:375.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13653"}
xref: SCTID:74783009 {source="MONDO:equivalentTo", source="DOID:13653", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155244 {source="MONDO:equivalentTo", source="DOID:13653"}
is_a: MONDO:0001854 {source="DOID:13653", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
is_a: MONDO:0003382 {source="DOID:13653", source="linkedlifedata"} ! eyelid disease
property_value: exactMatch DOID:13653
property_value: exactMatch http://identifiers.org/snomedct/74783009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155244

[Term]
id: MONDO:0001768
name: stenosis of lacrimal passage
synonym: "stenosis of lacrimal canaliculi" EXACT [DOID:13654, ICD9CM_2006:375.53]
xref: COHD:441025 {source="MONDO:equivalentTo"}
xref: DOID:13654 {source="MONDO:equivalentTo"}
xref: ICD10:H04.54 {source="DOID:13654"}
xref: ICD10:H04.549 {source="DOID:13654"}
xref: ICD9:375.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:13654"}
xref: SCTID:81345003 {source="MONDO:equivalentTo", source="DOID:13654", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001854 {source="DOID:13654", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
is_a: MONDO:0003382 {source="DOID:13654", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eyelid disease
property_value: closeMatch http://identifiers.org/snomedct/193992001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155245
property_value: exactMatch DOID:13654
property_value: exactMatch http://identifiers.org/snomedct/81345003

[Term]
id: MONDO:0001769
name: acquired tear duct stenosis
synonym: "acquired nasolacrimal duct stenosis" EXACT [DOID:13655]
synonym: "acquired stenosis of nasolacrimal duct" EXACT [DOID:13655]
synonym: "stenosis of nasolacrimal duct, acquired" EXACT [DOID:13655, ICD9CM_2006:375.56]
synonym: "tear duct - acquired stenosis" EXACT [DOID:13655]
xref: COHD:374357 {source="MONDO:equivalentTo"}
xref: DOID:13655 {source="MONDO:equivalentTo"}
xref: ICD10:H04.55 {source="DOID:13655"}
xref: ICD9:375.56 {source="MONDO:equivalentTo", source="i2s", source="DOID:13655"}
xref: SCTID:193995004 {source="MONDO:equivalentTo", source="DOID:13655", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0044984 ! nasolacrimal duct disease
property_value: closeMatch http://identifiers.org/snomedct/155184002
property_value: closeMatch http://identifiers.org/snomedct/267739007
property_value: closeMatch http://identifiers.org/snomedct/90056003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155248
property_value: exactMatch DOID:13655
property_value: exactMatch http://identifiers.org/snomedct/193995004

[Term]
id: MONDO:0001770
name: gastrin secretion abnormality
xref: COHD:194001 {source="MONDO:equivalentTo"}
xref: DOID:13656 {source="MONDO:equivalentTo"}
xref: ICD9:251.5 {source="DOID:13656", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:47344007 {source="DOID:13656", source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C0000774 {source="DOID:13656", source="MONDO:equivalentTo"}
is_a: MONDO:0001933 {source="DOID:13656", source="linkedlifedata/inferred"} ! endocrine pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/190443003
property_value: closeMatch http://identifiers.org/snomedct/190445005
property_value: exactMatch DOID:13656
property_value: exactMatch http://identifiers.org/snomedct/47344007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000774

[Term]
id: MONDO:0001771
name: infective urethral stricture
xref: DOID:13658 {source="MONDO:equivalentTo"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:598.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:598.01 {source="DOID:13658", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:80375002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.14"}
is_a: MONDO:0002127 {source="DOID:13658", source="linkedlifedata"} ! urethral stricture (disease)
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0002127 ! urethral stricture (disease)
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156282
property_value: exactMatch DOID:13658
property_value: exactMatch http://identifiers.org/snomedct/80375002

[Term]
id: MONDO:0001772
name: ulcer of anus and rectum
synonym: "anal and rectal ulcer" EXACT [DOID:13662]
xref: DOID:13662 {source="MONDO:equivalentTo"}
xref: ICD10:K62.6 {source="MONDO:equivalentTo", source="DOID:13662"}
xref: ICD9:569.41 {source="DOID:13662"}
is_a: MONDO:0001593 {source="DOID:13662"} ! rectal disease
property_value: closeMatch http://identifiers.org/snomedct/197227009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0400832
property_value: exactMatch DOID:13662

[Term]
id: MONDO:0001773
name: post-vaccinal encephalitis
def: "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)" [MESH:D004673]
synonym: "encephalitis following immunization procedures" EXACT [DOID:13664, ICD9CM_2006:323.5]
synonym: "postvaccinal encephalomyelitis" EXACT [DOID:13664]
xref: DOID:13664 {source="MONDO:equivalentTo"}
xref: ICD10:G04.02 {source="DOID:13664"}
xref: ICD9:323.51 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:31367003 {source="MONDO:equivalentTo", source="DOID:13664", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751101 {source="MONDO:equivalentTo", source="DOID:13664"}
is_a: MONDO:0019956 {source="DOID:13664", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis
property_value: exactMatch DOID:13664
property_value: exactMatch http://identifiers.org/snomedct/31367003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751101

[Term]
id: MONDO:0001774
name: posterior scleritis
xref: COHD:440732 {source="MONDO:equivalentTo"}
xref: DOID:13676 {source="MONDO:equivalentTo"}
xref: ICD10:H15.03 {source="DOID:13676"}
xref: ICD9:379.07 {source="MONDO:equivalentTo", source="i2s", source="DOID:13676"}
xref: SCTID:267660007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13676"}
xref: UMLS:C0155357 {source="MONDO:equivalentTo", source="DOID:13676"}
is_a: MONDO:0001718 {source="DOID:13676", source="linkedlifedata"} ! scleritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/194144007
property_value: closeMatch http://identifiers.org/snomedct/49429000
property_value: exactMatch DOID:13676
property_value: exactMatch http://identifiers.org/snomedct/267660007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155357

[Term]
id: MONDO:0001775
name: chronic duodenal ileus
xref: COHD:441897 {source="MONDO:equivalentTo"}
xref: DOID:13687 {source="MONDO:equivalentTo"}
xref: ICD10:K31.5 {source="DOID:13687"}
xref: ICD9:537.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13687"}
xref: SCTID:52232007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13687"}
xref: UMLS:C0156087 {source="MONDO:equivalentTo", source="DOID:13687"}
is_a: MONDO:0002688 {source="DOID:13687", source="linkedlifedata"} ! duodenal obstruction
property_value: exactMatch DOID:13687
property_value: exactMatch http://identifiers.org/snomedct/52232007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156087

[Term]
id: MONDO:0001776
name: prostate calculus
def: "A concretion in the prostate." [NCIT:P378]
synonym: "calculus of prostate" EXACT [DOID:13689, ICD9CM_2006:602.0]
synonym: "lower urinary tract calculus of prostate gland" EXACT [MONDO:design_pattern]
synonym: "prostate gland lower urinary tract calculus" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "prostatic lithiasis" EXACT [DOID:13689]
synonym: "prostatic stone" EXACT [DOID:13689, MTHICD9_2006:602.0]
synonym: "Stone of prostate" EXACT [DOID:13689, NCIT:C26936]
xref: COHD:193818 {source="MONDO:equivalentTo"}
xref: DOID:13689 {source="MONDO:equivalentTo"}
xref: ICD10:N42.0 {source="DOID:13689", source="MONDO:equivalentTo"}
xref: ICD9:602.0 {source="DOID:13689", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:85324003 {source="DOID:13689", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0149525 {source="DOID:13689", source="MONDO:equivalentTo"}
is_a: MONDO:0003105 ! prostate disease
is_a: MONDO:0004828 {source="DOID:13689", source="MONDO:Redundant"} ! lower urinary tract calculus
property_value: closeMatch http://identifiers.org/snomedct/155934005
property_value: closeMatch http://identifiers.org/snomedct/95592006
property_value: exactMatch DOID:13689
property_value: exactMatch http://identifiers.org/snomedct/85324003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149525
property_value: exactMatch NCIT:C26936

[Term]
id: MONDO:0001777
name: acute gonococcal cystitis
def: "Acute form of gonococcal cystitis." [MONDO:patterns/acute]
synonym: "acute gonorrhea of bladder" EXACT [DOID:13690, MTHICD9_2006:098.11]
synonym: "gonococcal cystitis" EXACT EXCLUDE [DOID:13690]
synonym: "gonococcal cystitis (acute)" EXACT [DOID:13690, ICD9CM_2006:098.11]
synonym: "gonococcal cystitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13690 {source="MONDO:equivalentTo"}
xref: ICD9:098.11 {source="MONDO:equivalentTo", source="DOID:13690", source="i2s"}
xref: SCTID:24868007 {source="MONDO:equivalentTo", source="DOID:13690", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153191 {source="MONDO:equivalentTo", source="DOID:13690"}
is_a: MONDO:0001650 {source="DOID:13690", source="MONDO:Redundant", source="MONDOLEX:0001777", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute cystitis (disease)
is_a: MONDO:0021160 {source="MONDO:Redundant", source="MONDOLEX:0001777", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal cystitis
property_value: exactMatch DOID:13690
property_value: exactMatch http://identifiers.org/snomedct/24868007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153191

[Term]
id: MONDO:0001778
name: dermoid cyst of skin
def: "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure." [NCIT:P378]
synonym: "cutaneous dermoid cyst" EXACT [NCIT:C4632]
synonym: "cystic skin teratoma" EXACT [NCIT:C4632]
synonym: "dermoid cyst of skin" EXACT [DOID:13691, NCIT:C4632]
synonym: "dermoid cyst of skin (finding)" EXACT [DOID:13691]
synonym: "dermoid cyst of the skin" EXACT [NCIT:C4632]
synonym: "skin dermoid" EXACT [DOID:13691, NCIT:C4632]
synonym: "skin dermoid cyst" EXACT [NCIT:C4632]
synonym: "subcutaneous dermoid cyst" EXACT [NCIT:C4632]
synonym: "zone of skin dermoid cyst" EXACT [MONDO:patterns/location]
xref: DOID:13691 {source="MONDO:equivalentTo"}
xref: NCIT:C4632 {source="DOID:13691", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:276729007 {source="DOID:13691", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349502 {source="DOID:13691", source="MONDO:equivalentTo", source="NCIT:C4632"}
is_a: MONDO:0002378 {source="DOID:13691", source="MONDO:Redundant", source="MONDOLEX:0001778", source="NCIT:C4632", source="linkedlifedata"} ! dermoid cyst
is_a: MONDO:0002531 ! skin neoplasm
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:13691"} ! skin cancer
property_value: closeMatch http://identifiers.org/snomedct/154630005
property_value: closeMatch http://identifiers.org/snomedct/201325006
property_value: exactMatch DOID:13691
property_value: exactMatch http://identifiers.org/snomedct/276729007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349502
property_value: exactMatch NCIT:C4632

[Term]
id: MONDO:0001779
name: vaginal squamous papilloma
def: "A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus." [NCIT:C6374]
synonym: "squamous papilloma of the vagina" EXACT [NCIT:C6374]
synonym: "squamous papilloma of vagina" EXACT [DOID:137, NCIT:C6374]
synonym: "vagina squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "vaginal squamous papilloma" EXACT [NCIT:C6374]
xref: DOID:137 {source="MONDO:equivalentTo"}
xref: NCIT:C6374 {source="DesignPattern", source="DOID:137", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336943 {source="DOID:137", source="NCIT:C6374", source="MONDO:equivalentTo"}
is_a: MONDO:0000647 {source="DOID:137", source="MONDO:Redundant", source="NCIT:C6374"} ! benign vaginal neoplasm
is_a: MONDO:0001806 {source="NCIT:C6374"} ! vaginal squamous tumor
is_a: MONDO:0001825 {source="MONDO:Redundant", source="MONDOLEX:0001779", source="NCIT:C6374"} ! squamous papilloma
property_value: exactMatch DOID:137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336943
property_value: exactMatch NCIT:C6374

[Term]
id: MONDO:0001780
name: premature ejaculation (disease)
def: "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." [NCIT:P378]
synonym: "premature ejaculation" EXACT [MONDO:ambiguous]
xref: COHD:434319 {source="MONDO:equivalentTo"}
xref: DOID:13709 {source="MONDO:equivalentTo"}
xref: HP:0012876 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F52.4 {source="MONDO:equivalentTo", source="DOID:13709"}
xref: ICD9:302.75 {source="DOID:13709"}
xref: MESH:D061686 {source="MONDO:equivalentTo", source="DOID:13709", source="MONDO:ontobio"}
xref: NCIT:C94349 {source="MONDO:equivalentTo", source="DOID:13709", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000595 {source="DOID:13709/inferred", source="NCIT:C94349"} ! sexual and gender identity disorders
property_value: closeMatch http://identifiers.org/snomedct/123302009
property_value: closeMatch http://identifiers.org/snomedct/154905005
property_value: closeMatch http://identifiers.org/snomedct/192468006
property_value: closeMatch http://identifiers.org/snomedct/268762007
property_value: closeMatch http://identifiers.org/snomedct/44001008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033038
property_value: exactMatch DOID:13709
property_value: exactMatch http://identifiers.org/mesh/D061686
property_value: exactMatch NCIT:C94349

[Term]
id: MONDO:0001781
name: uterine corpus adenomatoid tumor
def: "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." [NCIT:C27250]
synonym: "body of uterus adenomatoid tumor" EXACT [MONDO:patterns/location]
synonym: "uterine corpus adenomatoid tumor" EXACT [NCIT:C27250]
synonym: "uterine corpus localized epithelial mesothelioma" EXACT [DOID:1371, NCIT:C27250]
xref: DOID:1371 {source="MONDO:equivalentTo"}
xref: NCIT:C27250 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:1371"}
xref: UMLS:C1336902 {source="MONDO:equivalentTo", source="DOID:1371", source="NCIT:C27250"}
is_a: MONDO:0002373 ! benign mesothelioma
is_a: MONDO:0004230 {source="DOID:1371", source="MONDO:Redundant", source="MONDOLEX:0001781", source="NCIT:C27250"} ! adenomatoid tumor
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C27250"} ! benign neoplasm of corpus uteri
property_value: exactMatch DOID:1371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336902
property_value: exactMatch NCIT:C27250

[Term]
id: MONDO:0001782
name: mature cataract
def: "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity." [https://medical-dictionary.thefreedictionary.com/mature+cataract]
comment: May be ceded to HPO. Note current classification may be incorrect
synonym: "total or mature cataract" EXACT [DOID:13717, ICD9CM_2006:366.17]
synonym: "total, mature senile cataract" EXACT [DOID:13717]
xref: COHD:377285 {source="MONDO:equivalentTo"}
xref: DOID:13717 {source="MONDO:equivalentTo"}
xref: ICD9:366.17 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:849000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="DOID:13717/inferred", source="linkedlifedata"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13717", source="MONDOLEX:0001782"} ! senile cataract
property_value: closeMatch http://identifiers.org/snomedct/193590000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152257
property_value: exactMatch DOID:13717
property_value: exactMatch http://identifiers.org/snomedct/849000

[Term]
id: MONDO:0001783
name: endometrial stromal nodule
def: "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." [NCIT:C4262]
xref: DOID:1373 {source="MONDO:equivalentTo"}
xref: EFO:1000241 {source="MONDO:equivalentTo"}
xref: ICDO:8930/0 {source="NCIT:C4262"}
xref: NCIT:C4262 {source="DOID:1373", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:721571001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
xref: UMLS:C0334485 {source="DOID:1373", source="NCIT:C4262", source="MONDO:equivalentTo"}
is_a: MONDO:0004526 ! mixed endometrial stromal and smooth muscle tumor
is_a: MONDO:0021525 {source="NCIT:C4262", source="linkedlifedata"} ! benign neoplasm of corpus uteri
is_a: MONDO:0044335 {source="NCIT:C4262"} ! benign soft tissue neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189810002
property_value: closeMatch http://identifiers.org/snomedct/70971005
property_value: exactMatch DOID:1373
property_value: exactMatch http://identifiers.org/snomedct/721571001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334485
property_value: exactMatch NCIT:C4262

[Term]
id: MONDO:0001784
name: malignant renovascular hypertension
synonym: "malignant renal artery stenosis" EXACT []
synonym: "malignant renal hypertension" EXACT []
xref: DOID:13730 {source="MONDO:equivalentTo"}
is_a: MONDO:0000959 {source="DOID:13730"} ! malignant hypertensive renal disease
is_a: MONDO:0001105 ! renal hypertension
is_a: MONDO:0001785 {source="DOID:13730", source="MONDO:Redundant"} ! malignant secondary hypertension
intersection_of: MONDO:0001105 ! renal hypertension
intersection_of: MONDO:0006846 ! malignant hypertension
property_value: exactMatch DOID:13730

[Term]
id: MONDO:0001785
name: malignant secondary hypertension
xref: COHD:318437 {source="MONDO:equivalentTo"}
xref: DOID:13731 {source="MONDO:equivalentTo"}
xref: ICD9:405.0 {source="DOID:13731"}
xref: ICD9:405.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:89242004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13731"}
xref: UMLS:C0155617 {source="MONDO:equivalentTo", source="DOID:13731"}
is_a: MONDO:0001200 {source="DOID:13731", source="MONDO:Redundant", source="MONDOLEX:0001785", source="linkedlifedata"} ! secondary hypertension
is_a: MONDO:0006846 {source="DOID:13731", source="MONDO:Redundant", source="linkedlifedata"} ! malignant hypertension
intersection_of: MONDO:0001200 ! secondary hypertension
intersection_of: MONDO:0006846 ! malignant hypertension
property_value: closeMatch http://identifiers.org/snomedct/194784007
property_value: closeMatch http://identifiers.org/snomedct/49863005
property_value: exactMatch DOID:13731
property_value: exactMatch http://identifiers.org/snomedct/89242004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155617

[Term]
id: MONDO:0001786
name: uterine inflammatory disease
synonym: "inflammatory disease of the uterus" EXACT [DOID:13736]
xref: COHD:196162 {source="MONDO:equivalentTo"}
xref: DOID:13736 {source="MONDO:equivalentTo"}
xref: ICD10:N71.9 {source="DOID:13736"}
xref: ICD9:615.9 {source="DOID:13736", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:28783002 {source="DOID:13736", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0269047 {source="DOID:13736", source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:13736", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/198191007
property_value: closeMatch http://identifiers.org/snomedct/198197006
property_value: exactMatch DOID:13736
property_value: exactMatch http://identifiers.org/snomedct/28783002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269047

[Term]
id: MONDO:0001787
name: hepatic infarction
synonym: "infarct of liver" EXACT [DOID:13738]
xref: COHD:194417 {source="MONDO:equivalentTo"}
xref: DOID:13738 {source="MONDO:equivalentTo"}
xref: ICD10:K76.3 {source="DOID:13738"}
xref: ICD9:573.4 {source="DOID:13738", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:17890003 {source="DOID:13738", source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0151731 {source="DOID:13738", source="MONDO:equivalentTo"}
is_a: MONDO:0002405 {source="DOID:13738", source="linkedlifedata"} ! hepatic vascular disease
property_value: exactMatch DOID:13738
property_value: exactMatch http://identifiers.org/snomedct/17890003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151731

[Term]
id: MONDO:0001788
name: nutmeg liver
synonym: "chronic passive congestion of liver" EXACT [DOID:13739, ICD9CM_2006:573.0]
xref: COHD:200451 {source="MONDO:equivalentTo"}
xref: DOID:13739 {source="MONDO:equivalentTo"}
xref: ICD10:K76.1 {source="DOID:13739"}
xref: ICD9:573.0 {source="MONDO:equivalentTo", source="DOID:13739", source="i2s"}
xref: SCTID:34736002 {source="MONDO:equivalentTo", source="DOID:13739", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156195 {source="MONDO:equivalentTo", source="DOID:13739"}
is_a: MONDO:0002405 {source="DOID:13739", source="linkedlifedata"} ! hepatic vascular disease
property_value: exactMatch DOID:13739
property_value: exactMatch http://identifiers.org/snomedct/34736002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156195

[Term]
id: MONDO:0001789
name: neurofibroma of spinal cord
def: "A neurofibroma that arises from the spinal cord." [NCIT:P378]
synonym: "neurofibroma of spinal cord" EXACT [NCIT:C5145]
synonym: "spinal cord neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5145]
xref: DOID:13742 {source="MONDO:equivalentTo"}
xref: NCIT:C5145 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13742"}
xref: UMLS:C1336047 {source="NCIT:C5145", source="MONDO:equivalentTo", source="DOID:13742"}
is_a: MONDO:0016755 {source="DOID:13742", source="MONDO:Redundant", source="NCIT:C5145"} ! neurofibroma
is_a: MONDO:0021234 ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:13742"} ! spinal cord cancer
property_value: exactMatch DOID:13742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336047
property_value: exactMatch NCIT:C5145

[Term]
id: MONDO:0001790
name: spinal cord lipoma
def: "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare." [NCIT:C4619]
synonym: "lipoma of spinal cord" EXACT [NCIT:C4619]
synonym: "spinal cord lipoma" EXACT [MONDO:patterns/location, NCIT:C4619]
xref: DOID:13743 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4619 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:13743"}
xref: SCTID:189017000 {source="MONDO:equivalentTo", source="DOID:13743", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0347446 {source="NCIT:C4619", source="MONDO:equivalentTo", source="DOID:13743"}
is_a: MONDO:0003844 {source="DOID:13743", source="MONDO:Redundant", source="NCIT:C4619"} ! central nervous system lipoma
is_a: MONDO:0021506 {source="MONDO:Redundant", source="NCIT:C4619", source="linkedlifedata"} ! benign neoplasm of spinal cord
property_value: exactMatch DOID:13743
property_value: exactMatch http://identifiers.org/snomedct/189017000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347446
property_value: exactMatch NCIT:C4619

[Term]
id: MONDO:0001791
name: neonatal urinary tract infectious disease
synonym: "urinary tract infection of newborn" EXACT [DOID:1375, ICD9CM_2006:771.82]
xref: DOID:1375 {source="MONDO:equivalentTo"}
xref: ICD10:P39.3 {source="DOID:1375"}
xref: ICD9:771.82 {source="DOID:1375"}
xref: SCTID:12301009 {source="DOID:1375", source="MONDO:equivalentTo"}
xref: UMLS:C0235815 {source="DOID:1375", source="MONDO:equivalentTo"}
is_a: MONDO:0005247 {source="MONDO:cjm", source="linkedlifedata"} ! urinary tract infection (disease)
property_value: exactMatch DOID:1375
property_value: exactMatch http://identifiers.org/snomedct/12301009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235815

[Term]
id: MONDO:0001792
name: epiphora due to insufficient drainage
xref: COHD:438156 {source="MONDO:equivalentTo"}
xref: DOID:13756 {source="MONDO:equivalentTo"}
xref: ICD10:H04.22 {source="DOID:13756"}
xref: ICD9:375.22 {source="DOID:13756", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:85042000 {source="DOID:13756", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155234 {source="DOID:13756", source="MONDO:equivalentTo"}
is_a: MONDO:0001793 {source="DOID:13756", source="MONDOLEX:0001792", source="linkedlifedata"} ! excessive tearing
property_value: exactMatch DOID:13756
property_value: exactMatch http://identifiers.org/snomedct/85042000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155234

[Term]
id: MONDO:0001793
name: excessive tearing
def: "Diseases of the lacrimal apparatus." [MESH:D007766]
synonym: "apparatus disease, lacrimal" EXACT [MESH:D007766]
synonym: "apparatus diseases, lacrimal" EXACT [MESH:D007766]
synonym: "disease, lacrimal apparatus" EXACT [MESH:D007766]
synonym: "diseases, lacrimal apparatus" EXACT [MESH:D007766]
synonym: "epiphora" EXACT [DOID:13757, ICD9CM_2006:375.2, MESH:D007766]
synonym: "excessive tear production" EXACT [DOID:13757]
synonym: "lacrimal apparatus disease" EXACT [MESH:D007766]
synonym: "watering eye" EXACT [DOID:13757]
xref: COHD:435553 {source="MONDO:equivalentTo"}
xref: DOID:13757 {source="MONDO:equivalentTo"}
xref: ICD10:H04.2 {source="DOID:13757"}
xref: ICD10:H04.20 {source="DOID:13757"}
xref: ICD9:375.2 {source="DOID:13757"}
xref: ICD9:375.20 {source="DOID:13757", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007766 {source="DOID:13757", source="MONDO:equivalentTo"}
xref: SCTID:193982009 {source="DOID:13757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152227 {source="DOID:13757", source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="DOID:13757", source="linkedlifedata"} ! lacrimal apparatus disease
property_value: closeMatch http://identifiers.org/snomedct/155185001
property_value: closeMatch http://identifiers.org/snomedct/193985006
property_value: closeMatch http://identifiers.org/snomedct/267740009
property_value: closeMatch http://identifiers.org/snomedct/418035005
property_value: closeMatch http://identifiers.org/snomedct/49393005
property_value: exactMatch DOID:13757
property_value: exactMatch http://identifiers.org/mesh/D007766
property_value: exactMatch http://identifiers.org/snomedct/193982009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152227
property_value: exactMatch NCIT:C50552

[Term]
id: MONDO:0001794
name: Pthirus pubis infestation
def: "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." [NCIT:P378]
synonym: "crabs" EXACT [DOID:13760]
synonym: "infections, Pthirus pubis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "infestation by Phthirus pubis" EXACT [DOID:13760]
synonym: "pediculosis pubis" EXACT [DOID:13760, NCIT:C35777]
synonym: "Pediculus pubis" EXACT [DOID:13760, MTHICD9_2006:132.2]
synonym: "phthiriasis" EXACT [NCIT:C35777]
synonym: "phthiriasis pubis" EXACT [DOID:13760]
synonym: "Phthirus pubis" EXACT [DOID:13760]
synonym: "Phthirus pubis [pubic louse]" EXACT [DOID:13760, ICD9CM_2006:132.2]
synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT [DOID:13760]
synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [DOID:13760]
synonym: "Pthirus pubis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:13760 {source="MONDO:equivalentTo"}
xref: ICD10:B85.3 {source="MONDO:equivalentTo", source="DOID:13760"}
xref: ICD9:132.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13760"}
xref: NCIT:C35777 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13760"}
xref: SCTID:71011005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.69/4.55", source="DOID:13760"}
xref: UMLS:C0030759 {source="MONDO:equivalentTo", source="DOID:13760"}
is_a: MONDO:0003472 {source="DOID:13760"} ! lice infestation
is_a: MONDO:0021201 {source="NCIT:C35777"} ! skin infection
property_value: closeMatch http://identifiers.org/snomedct/154420009
property_value: closeMatch http://identifiers.org/snomedct/187210003
property_value: closeMatch http://identifiers.org/snomedct/243683001
property_value: closeMatch http://identifiers.org/snomedct/271545007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0277352
property_value: exactMatch DOID:13760
property_value: exactMatch http://identifiers.org/snomedct/71011005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030759
property_value: exactMatch NCIT:C35777

[Term]
id: MONDO:0001795
name: plantar wart
def: "A wart in the plantar surface of the foot. It is caused by human papillomavirus." [NCIT:P378]
synonym: "plantar wart" EXACT [DOID:13775, MTH:587]
synonym: "verruca plantaris" EXACT [DOID:13775, MTHICD9_2006:078.19, NCIT:C26913]
xref: COHD:137785 {source="MONDO:equivalentTo"}
xref: DOID:13775 {source="MONDO:equivalentTo"}
xref: EFO:1002023 {source="MONDO:equivalentTo"}
xref: ICD10:B07.0 {source="MONDO:equivalentTo", source="DOID:13775"}
xref: ICD9:078.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:13775"}
xref: NCIT:C26913 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.60", source="DOID:13775"}
xref: SCTID:63440008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13775"}
xref: UMLS:C0042548 {source="MONDO:equivalentTo", source="NCIT:C26913", source="DOID:13775"}
is_a: MONDO:0005108 {source="DOID:13775", source="EFO:1002023", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
is_a: MONDO:0024294 ! skin disease caused by infection
is_a: MONDO:0024666 {source="NCIT:C26913"} ! benign epithelial skin neoplasm
is_a: MONDO:0044989 ! foot disease
property_value: closeMatch http://identifiers.org/snomedct/154363006
property_value: exactMatch DOID:13775
property_value: exactMatch http://identifiers.org/snomedct/63440008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042548
property_value: exactMatch NCIT:C26913

[Term]
id: MONDO:0001796
name: obsolete epidermodysplasia verruciformis
is_obsolete: true
replaced_by: MONDO:0009176

[Term]
id: MONDO:0001797
name: chancroid
def: "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi . Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses . The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin , ceftriaxone , ciprofloxacin , and erythromycin . Large lymph node swellings need to be drained, either with a needle or local surgery." [https://rarediseases.info.nih.gov/diseases/9522/chancroid]
subset: gard_rare {source="GARD:0009522"}
synonym: "Chancroids" RELATED [MESH:D002602]
synonym: "Ulcus molle, skin" EXACT [DOID:13778, MTHICD9_2006:099.0]
xref: COHD:138973 {source="MONDO:equivalentTo"}
xref: DOID:13778 {source="MONDO:equivalentTo"}
xref: GARD:0009522 {source="MONDO:equivalentTo"}
xref: ICD10:A57 {source="DOID:13778", source="MONDO:equivalentTo"}
xref: ICD9:099.0 {source="DOID:13778", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002602 {source="DOID:13778", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:266143009 {source="DOID:13778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0007947 {source="DOID:13778", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:13778"} ! primary bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D002602", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial sexually transmitted disease
is_a: MONDO:0006926 {source="MESH:D002602", source="MONDO:Redundant", source="linkedlifedata"} ! haemophilus infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154391003
property_value: closeMatch http://identifiers.org/snomedct/186945008
property_value: closeMatch http://identifiers.org/snomedct/266213004
property_value: closeMatch http://identifiers.org/snomedct/87429008
property_value: exactMatch DOID:13778
property_value: exactMatch http://identifiers.org/mesh/D002602
property_value: exactMatch http://identifiers.org/snomedct/266143009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007947
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9522/chancroid xsd:anyURI {source="GARD:0009522"}

[Term]
id: MONDO:0001798
name: hypermobility syndrome
synonym: "benign joint hypermobility" EXACT [DOID:13781]
xref: COHD:76790 {source="MONDO:equivalentTo"}
xref: DOID:13781 {source="MONDO:equivalentTo"}
xref: ICD10:M35.7 {source="MONDO:equivalentTo", source="DOID:13781"}
xref: ICD9:728.5 {source="MONDO:equivalentTo", source="DOID:13781", source="i2s"}
xref: SCTID:85551004 {source="MONDO:equivalentTo", source="DOID:13781", source="MONDO:kboom-pr-1.00/0.91/28.95"}
xref: UMLS:C0152093 {source="MONDO:equivalentTo", source="DOID:13781"}
is_a: MONDO:0006816 {source="DOID:13781", source="linkedlifedata"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/156723005
property_value: exactMatch DOID:13781
property_value: exactMatch http://identifiers.org/snomedct/85551004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152093

[Term]
id: MONDO:0001799
name: localized anterior staphyloma
synonym: "anterior staphyloma, localized" EXACT [DOID:13787, ICD9CM_2006:379.14]
xref: DOID:13787 {source="MONDO:equivalentTo"}
xref: ICD10:H15.82 {source="DOID:13787"}
xref: ICD9:379.14 {source="MONDO:equivalentTo", source="i2s", source="DOID:13787"}
xref: SCTID:21946002 {source="MONDO:equivalentTo", source="DOID:13787", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155362 {source="MONDO:equivalentTo", source="DOID:13787"}
is_a: MONDO:0001321 {source="DOID:13787", source="linkedlifedata", source="linkedlifedata/inferred"} ! scleral staphyloma (disease)
property_value: exactMatch DOID:13787
property_value: exactMatch http://identifiers.org/snomedct/21946002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155362

[Term]
id: MONDO:0001800
name: equatorial staphyloma
xref: DOID:13788 {source="MONDO:equivalentTo"}
xref: ICD10:H15.81 {source="DOID:13788"}
xref: ICD9:379.13 {source="DOID:13788"}
xref: SCTID:82146006 {source="DOID:13788", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155361 {source="DOID:13788", source="MONDO:equivalentTo"}
is_a: MONDO:0001321 {source="DOID:13788", source="linkedlifedata"} ! scleral staphyloma (disease)
property_value: exactMatch DOID:13788
property_value: exactMatch http://identifiers.org/snomedct/82146006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155361

[Term]
id: MONDO:0001801
name: staphyloma posticum
xref: COHD:438767 {source="MONDO:equivalentTo"}
xref: DOID:13789 {source="MONDO:equivalentTo"}
xref: ICD10:H15.83 {source="DOID:13789"}
xref: ICD9:379.12 {source="DOID:13789", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:87819007 {source="DOID:13789", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155360 {source="DOID:13789", source="MONDO:equivalentTo"}
is_a: MONDO:0001321 {source="DOID:13789", source="linkedlifedata"} ! scleral staphyloma (disease)
property_value: exactMatch DOID:13789
property_value: exactMatch http://identifiers.org/snomedct/87819007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155360

[Term]
id: MONDO:0001802
name: acute tympanitis
synonym: "acute myringitis" EXACT [DOID:13790]
xref: COHD:381040 {source="MONDO:equivalentTo"}
xref: DOID:13790 {source="MONDO:equivalentTo"}
xref: ICD10:H73.0 {source="DOID:13790"}
xref: ICD10:H73.00 {source="DOID:13790"}
xref: ICD10:H73.009 {source="DOID:13790"}
xref: ICD9:384.00 {source="DOID:13790", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:297009 {source="DOID:13790", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155460 {source="DOID:13790", source="MONDO:equivalentTo"}
is_a: MONDO:0024616 ! tympanitis
property_value: closeMatch http://identifiers.org/snomedct/194312004
property_value: closeMatch http://identifiers.org/snomedct/194313009
property_value: exactMatch DOID:13790
property_value: exactMatch http://identifiers.org/snomedct/297009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155460

[Term]
id: MONDO:0001803
name: myringitis bullosa hemorrhagica
def: "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." [DOID:13791, https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm]
synonym: "bullous myringitis" EXACT [DOID:13791, ICD9CM_2006:384.01]
xref: COHD:375291 {source="MONDO:equivalentTo"}
xref: DOID:13791 {source="MONDO:equivalentTo"}
xref: ICD10:H73.01 {source="DOID:13791"}
xref: ICD9:384.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:13791"}
xref: SCTID:33528003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15", source="DOID:13791"}
xref: UMLS:C0155461 {source="MONDO:equivalentTo", source="DOID:13791"}
is_a: MONDO:0003648 {source="DOID:13791", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! tympanic membrane disease
property_value: exactMatch DOID:13791
property_value: exactMatch http://identifiers.org/snomedct/33528003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155461

[Term]
id: MONDO:0001804
name: anterior scleritis
xref: COHD:441582 {source="MONDO:equivalentTo"}
xref: DOID:13794 {source="MONDO:equivalentTo"}
xref: ICD10:H15.01 {source="DOID:13794"}
xref: ICD9:379.03 {source="MONDO:equivalentTo", source="i2s", source="DOID:13794"}
xref: SCTID:63454000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13794"}
xref: UMLS:C0155353 {source="MONDO:equivalentTo", source="DOID:13794"}
is_a: MONDO:0001718 {source="DOID:13794", source="linkedlifedata"} ! scleritis (disease)
property_value: exactMatch DOID:13794
property_value: exactMatch http://identifiers.org/snomedct/63454000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155353

[Term]
id: MONDO:0001805
name: female breast central part cancer
synonym: "malignant neoplasm of central part of female breast" EXACT [DOID:13799]
synonym: "malignant neoplasm of central portion of female breast" EXACT [DOID:13799, ICD9CM_2006:174.1]
xref: DOID:13799 {source="MONDO:equivalentTo"}
xref: ICD10:C50.11 {source="DOID:13799"}
xref: ICD9:174.1 {source="DOID:13799", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188151006 {source="DOID:13799", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153549 {source="DOID:13799", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004379 {source="DOID:13799", source="linkedlifedata"} ! female breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/93745008
property_value: exactMatch DOID:13799
property_value: exactMatch http://identifiers.org/snomedct/188151006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153549

[Term]
id: MONDO:0001806
name: vaginal squamous tumor
def: "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." [NCIT:P378]
synonym: "vagina squamous cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal squamous neoplasm" EXACT [NCIT:C40242]
synonym: "vaginal squamous tumor" EXACT [NCIT:C40242]
xref: DOID:138 {source="MONDO:equivalentTo"}
xref: NCIT:C40242 {source="DOID:138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1519931 {source="DOID:138", source="MONDO:equivalentTo", source="NCIT:C40242"}
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40242"} ! squamous cell neoplasm
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C40242"} ! vaginal neoplasm
property_value: exactMatch DOID:138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519931
property_value: exactMatch NCIT:C40242

[Term]
id: MONDO:0001807
name: familial combined hyperlipidemia
def: "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." [MESH:D006950]
subset: ordo_group_of_disorders {source="Orphanet:79211"}
synonym: "combined hyperlipidemia" RELATED [Orphanet:79211]
synonym: "combined hyperlipoproteinemia" EXACT [Orphanet:79211]
synonym: "familial combined hyperlipidemia (disorder) [ambiguous]" EXACT [DOID:13809]
synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [DOID:13809]
synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [DOID:13809, MTHICD9_2006:272.2]
synonym: "mixed hyperlipidaemia" EXACT [DOID:13809]
synonym: "mixed hyperlipidemia" EXACT [DOID:13809, ICD9CM_2006:272.2, NCIT:C34821, Orphanet:79211]
synonym: "mixed hyperlipoproteinemia" EXACT [Orphanet:79211]
synonym: "type IIb hyperlipoproteinemia" NARROW [DOID:13809, NCIT:C34708]
xref: COHD:438720 {source="MONDO:equivalentTo"}
xref: DOID:13809 {source="MONDO:equivalentTo"}
xref: ICD10:E78.2 {source="ORDO:79211/e", source="ORDO:79211/specific", source="Orphanet:79211"}
xref: ICD10:E78.4 {source="DOID:13809"}
xref: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027763 {source="ORDO:79211/e", source="Orphanet:79211"}
xref: MESH:D006950 {source="MONDO:equivalentTo", source="DOID:13809"}
xref: Orphanet:79211 {source="MONDO:equivalentTo"}
xref: SCTID:238040008 {source="MONDO:equivalentTo", source="DOID:13809"}
is_a: MONDO:0001336 {source="DOID:13809", source="MESH:D006950", source="indirect"} ! familial hyperlipidemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015901"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154742006
property_value: closeMatch http://identifiers.org/snomedct/190780005
property_value: closeMatch http://identifiers.org/snomedct/299465007
property_value: closeMatch http://identifiers.org/snomedct/48190005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020474
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2047520
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2712907
property_value: exactMatch DOID:13809
property_value: exactMatch http://identifiers.org/meddra/10027763
property_value: exactMatch http://identifiers.org/mesh/D006950
property_value: exactMatch http://identifiers.org/snomedct/238040008
property_value: exactMatch Orphanet:79211

[Term]
id: MONDO:0001808
name: chronic subinvolution of uterus
xref: COHD:201903 {source="MONDO:equivalentTo"}
xref: DOID:13811 {source="MONDO:equivalentTo"}
xref: ICD9:621.1 {source="DOID:13811", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:198315005 {source="DOID:13811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156370 {source="DOID:13811", source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:13811", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/53518003
property_value: exactMatch DOID:13811
property_value: exactMatch http://identifiers.org/snomedct/198315005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156370

[Term]
id: MONDO:0001809
name: adhesions of uterus
synonym: "band of uterus" EXACT [DOID:13812, MTHICD9_2006:621.5]
synonym: "intrauterine adhesions" EXACT EXCLUDE [DOID:13812]
synonym: "intrauterine synechiae" EXACT [DOID:13812, ICD9CM_2006:621.5]
xref: DOID:13812 {source="MONDO:equivalentTo"}
xref: ICD9:621.5 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:361115000 {source="DOID:13812", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.48/0.54"}
xref: UMLS:CN199257 {source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:13812", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/301789000
property_value: closeMatch http://identifiers.org/snomedct/31107007
property_value: closeMatch http://identifiers.org/snomedct/367435001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241593
property_value: exactMatch DOID:13812
property_value: exactMatch http://identifiers.org/snomedct/361115000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199257

[Term]
id: MONDO:0001810
name: hypoglossal nerve disease
def: "A disease involving the hypoglossal nerve." [MONDO:DesignPattern]
synonym: "disease of hypoglossal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of hypoglossal nerve" EXACT []
synonym: "disorder of 12th nerve" EXACT [DOID:13814, MTHICD9_2006:352.5]
synonym: "disorder of hypoglossal [12th] nerve" EXACT [DOID:13814, ICD9CM_2006:352.5]
synonym: "disorder of hypoglossal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of hypoglossal nerve" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the XII nerve" EXACT [NCIT:C26954]
synonym: "disorder of XII nerve" EXACT [DOID:13814, NCIT:C26954]
synonym: "hypoglossal nerve disease" EXACT [MONDO:patterns/location]
synonym: "hypoglossal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "hypoglossal nerve disorder" EXACT [NCIT:C26954]
synonym: "twelfth nerve disorder" EXACT [NCIT:C26954]
xref: COHD:435537 {source="MONDO:equivalentTo"}
xref: DOID:13814 {source="MONDO:equivalentTo"}
xref: ICD10:G52.3 {source="DOID:13814"}
xref: ICD9:352.5 {source="DOID:13814", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020437 {source="DOID:13814", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26954 {source="DOID:13814", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:24777009 {source="DOID:13814", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152181 {source="DOID:13814", source="MONDO:equivalentTo", source="NCIT:C26954"}
is_a: MONDO:0003569 {source="DOID:13814/inferred", source="MESH:D020437", source="MONDO:Redundant", source="NCIT:C26954", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13814"} ! glossopharyngeal nerve disease
property_value: exactMatch DOID:13814
property_value: exactMatch http://identifiers.org/mesh/D020437
property_value: exactMatch http://identifiers.org/snomedct/24777009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152181
property_value: exactMatch NCIT:C26954

[Term]
id: MONDO:0001811
name: tetanic cataract
def: "A cataract resulting from hypocalcemia." [NCIT:P378]
synonym: "hypocalcaemic cataract" EXACT [DOID:13822]
xref: DOID:13822 {source="MONDO:equivalentTo"}
xref: ICD9:366.42 {source="DOID:13822", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35068 {source="DOID:13822", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:68216000 {source="DOID:13822", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0039613 {source="DOID:13822", source="MONDO:equivalentTo", source="NCIT:C35068"}
is_a: MONDO:0005129 {source="DOID:13822", source="NCIT:C35068", source="linkedlifedata", source="linkedlifedata/inferred"} ! cataract (disease)
property_value: closeMatch http://identifiers.org/snomedct/193607003
property_value: exactMatch DOID:13822
property_value: exactMatch http://identifiers.org/snomedct/68216000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039613
property_value: exactMatch NCIT:C35068

[Term]
id: MONDO:0001812
name: parasitic eyelid infestation
synonym: "parasitic eyelid infestation" EXACT []
synonym: "parasitic infestation of eyelid" EXACT [DOID:13823, ICD9CM_2006:373.6]
xref: DOID:13823 {source="MONDO:equivalentTo"}
xref: ICD9:373.6 {source="DOID:13823", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193922006 {source="DOID:13823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C0155183 {source="DOID:13823", source="MONDO:equivalentTo"}
is_a: MONDO:0004785 {source="DOID:13823"} ! blepharitis
is_a: MONDO:0020947 ! parasitic eye infection
property_value: exactMatch DOID:13823
property_value: exactMatch http://identifiers.org/snomedct/193922006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155183

[Term]
id: MONDO:0001813
name: squamous blepharitis
xref: COHD:438430 {source="MONDO:equivalentTo"}
xref: DOID:13825 {source="MONDO:equivalentTo"}
xref: ICD10:H01.02 {source="MONDO:subClassOf", source="DOID:13825"}
xref: ICD10:H01.021-H01.029 {source="MONDO:subClassOf", source="DOID:13825"}
xref: ICD9:373.02 {source="DOID:13825", source="MONDO:equivalentTo", source="i2s"}
xref: MEDGEN:509829 {source="UMLS:C0155174"}
xref: SCTID:58912008 {source="DOID:13825", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155174 {source="DOID:13825", source="MONDO:equivalentTo"}
is_a: MONDO:0004785 {source="DOID:13825", source="linkedlifedata"} ! blepharitis
property_value: closeMatch http://identifiers.org/medgen/509829
property_value: exactMatch DOID:13825
property_value: exactMatch http://identifiers.org/snomedct/58912008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155174

[Term]
id: MONDO:0001814
name: obsolete patent ductus arteriosus
is_obsolete: true
replaced_by: MONDO:0011827

[Term]
id: MONDO:0001815
name: extrapyramidal and movement disease
xref: DOID:13839 {source="MONDO:equivalentTo"}
xref: ICD10:G20-G26 {source="DOID:13839"}
xref: ICD10:G25.9 {source="DOID:13839"}
xref: ICD9:333.90 {source="DOID:13839"}
xref: UMLS:C0477355 {source="DOID:13839", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="DOID:13839"} ! movement disorder
property_value: closeMatch http://identifiers.org/snomedct/192866001
property_value: closeMatch http://identifiers.org/snomedct/194467002
property_value: exactMatch DOID:13839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0477355

[Term]
id: MONDO:0001816
name: scleroperikeratitis
synonym: "scleritis with corneal involvement" EXACT [DOID:13861, ICD9CM_2006:379.05]
xref: COHD:432637 {source="MONDO:equivalentTo"}
xref: DOID:13861 {source="MONDO:equivalentTo"}
xref: ICD10:H15.04 {source="DOID:13861"}
xref: ICD9:379.05 {source="MONDO:equivalentTo", source="i2s", source="DOID:13861"}
xref: SCTID:42574005 {source="MONDO:equivalentTo", source="DOID:13861", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155355 {source="MONDO:equivalentTo", source="DOID:13861"}
is_a: MONDO:0001718 {source="DOID:13861", source="linkedlifedata"} ! scleritis (disease)
is_a: MONDO:0003085 ! keratitis
property_value: exactMatch DOID:13861
property_value: exactMatch http://identifiers.org/snomedct/42574005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155355

[Term]
id: MONDO:0001817
name: acute closed-angle glaucoma
def: "Acute form of angle-closure glaucoma." [MONDO:patterns/acute]
synonym: "acute angle-closure glaucoma" EXACT [DOID:13862, ICD9CM_2006:365.22]
synonym: "angle-closure glaucoma, acute" EXACT [MONDO:patterns/acute]
xref: COHD:436108 {source="MONDO:equivalentTo"}
xref: DOID:13862 {source="MONDO:equivalentTo"}
xref: ICD10:H40.21 {source="DOID:13862"}
xref: ICD9:365.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:13862"}
xref: SCTID:30041005 {source="MONDO:equivalentTo", source="DOID:13862", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154946 {source="MONDO:equivalentTo", source="DOID:13862"}
is_a: MONDO:0001868 {source="DOID:13862"} ! primary angle-closure glaucoma
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:13862
property_value: exactMatch http://identifiers.org/snomedct/30041005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154946

[Term]
id: MONDO:0001818
name: facial neuralgia
def: "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156]
synonym: "facial nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "neuralgia of facial nerve" EXACT [MONDO:design_pattern]
xref: DOID:13865 {source="MONDO:equivalentTo"}
xref: ICD9:351.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005156 {source="DOID:13865", source="MONDO:equivalentTo"}
xref: SCTID:4151000119102 {source="DOID:13865", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.38"}
is_a: MONDO:0002098 {source="DOID:13865", source="MESH:D005156", source="MONDO:Redundant", source="linkedlifedata"} ! facial nerve disease
is_a: MONDO:0016374 ! cranial neuralgia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015467
property_value: exactMatch DOID:13865
property_value: exactMatch http://identifiers.org/mesh/D005156
property_value: exactMatch http://identifiers.org/snomedct/4151000119102

[Term]
id: MONDO:0001819
name: multiple cranial nerve palsy
synonym: "multiple cranial nerve palsies" EXACT [DOID:13866, ICD9CM_2006:352.6]
xref: COHD:437543 {source="MONDO:equivalentTo"}
xref: DOID:13866 {source="MONDO:equivalentTo"}
xref: ICD10:G52.7 {source="DOID:13866"}
xref: ICD9:352.6 {source="DOID:13866", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:78152008 {source="DOID:13866", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154733 {source="DOID:13866", source="MONDO:equivalentTo"}
is_a: MONDO:0002782 {source="MONDO:Redundant", source="MONDO:cjm"} ! cranial nerve palsy
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13866"} ! glossopharyngeal nerve disease
property_value: closeMatch http://identifiers.org/snomedct/193100000
property_value: closeMatch http://identifiers.org/snomedct/193103003
property_value: exactMatch DOID:13866
property_value: exactMatch http://identifiers.org/snomedct/78152008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154733

[Term]
id: MONDO:0001820
name: focal labyrinthitis
def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." [DOID:13867, http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false]
synonym: "circumscribed labyrinthitis" EXACT [DOID:13867, ICD9CM_2006:386.32]
xref: DOID:13867 {source="MONDO:equivalentTo"}
xref: ICD9:386.32 {source="DOID:13867", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:61794006 {source="DOID:13867", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.61"}
xref: UMLS:C0155505 {source="DOID:13867", source="MONDO:equivalentTo"}
is_a: MONDO:0002008 {source="DOID:13867", source="DOID:13867/inferred", source="linkedlifedata"} ! labyrinthitis
relationship: disease_has_feature MONDO:0000748 ! mastoiditis (disease)
property_value: closeMatch http://identifiers.org/snomedct/194364005
property_value: exactMatch DOID:13867
property_value: exactMatch http://identifiers.org/snomedct/61794006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155505

[Term]
id: MONDO:0001821
name: hypoactive sexual desire disorder
def: "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." [NCIT:P378]
synonym: "lack or loss of sexual desire" EXACT [DOID:13868]
xref: COHD:443262 {source="MONDO:equivalentTo"}
xref: DOID:13868 {source="MONDO:equivalentTo"}
xref: ICD10:F52.0 {source="DOID:13868", source="MONDO:equivalentTo"}
xref: ICD9:302.71 {source="DOID:13868", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C94337 {source="DOID:13868", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:270903007 {source="DOID:13868", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000947 {source="DOID:13868", source="linkedlifedata", source="linkedlifedata/inferred"} ! psychosexual disorder
property_value: closeMatch http://identifiers.org/mesh/D020018
property_value: closeMatch http://identifiers.org/snomedct/112096004
property_value: closeMatch http://identifiers.org/snomedct/192464008
property_value: closeMatch http://identifiers.org/snomedct/78889008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020594
property_value: exactMatch DOID:13868
property_value: exactMatch http://identifiers.org/snomedct/270903007
property_value: exactMatch NCIT:C94337

[Term]
id: MONDO:0001822
name: hypolipoproteinemia (disease)
def: "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." [MESH:D007009]
synonym: "hypolipoproteinaemia" EXACT [DOID:1387]
synonym: "hypolipoproteinemia" EXACT [MONDO:ambiguous]
synonym: "lipoprotein deficiencies" RELATED [DOID:1387, ICD9CM_2006:272.5]
xref: DOID:1387 {source="MONDO:equivalentTo"}
xref: GARD:0008394 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0010981 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E78.6 {source="DOID:1387"}
xref: ICD9:272.5 {source="DOID:1387"}
xref: MESH:D007009 {source="DOID:1387", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:363140000 {source="DOID:1387", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.36"}
is_a: MONDO:0002525 {source="DOID:1387"} ! inherited lipid metabolism disorder
property_value: closeMatch http://identifiers.org/snomedct/190783007
property_value: closeMatch http://identifiers.org/snomedct/190788003
property_value: closeMatch http://identifiers.org/snomedct/267436001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020623
property_value: exactMatch DOID:1387
property_value: exactMatch http://identifiers.org/mesh/D007009
property_value: exactMatch http://identifiers.org/snomedct/363140000

[Term]
id: MONDO:0001823
name: sick sinus syndrome
def: "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." [NCIT:P378]
synonym: "sinus node infection" EXACT [DOID:13884]
synonym: "SSS" EXACT [NCIT:C62244]
xref: COHD:4261842 {source="MONDO:equivalentTo"}
xref: DOID:13884 {source="MONDO:equivalentTo"}
xref: ICD10:I49.5 {source="MONDO:equivalentTo", source="DOID:13884"}
xref: MESH:D012804 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13884"}
xref: NCIT:C62244 {source="MONDO:equivalentTo", source="DOID:13884", source="MONDO:kboom-pr-0.94/0.80/1.21"}
xref: OMIMPS:608567 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:36083008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13884"}
is_a: MONDO:0000469 {source="DOID:13884"} ! sinoatrial node disease
is_a: MONDO:0002254 {source="MONDOLEX:0001823", source="NCIT:C62244"} ! syndromic disease
property_value: closeMatch http://identifiers.org/snomedct/155373001
property_value: closeMatch http://identifiers.org/snomedct/266307005
property_value: exactMatch DOID:13884
property_value: exactMatch http://identifiers.org/mesh/D012804
property_value: exactMatch http://identifiers.org/snomedct/36083008
property_value: exactMatch NCIT:C62244

[Term]
id: MONDO:0001824
name: polyneuropathy
def: "A disease or disorder affecting more than one nerve." [NCIT:C26951]
synonym: "polyneuropathy" EXACT [NCIT:C26951]
xref: COHD:4174262 {source="MONDO:equivalentTo"}
xref: DOID:1389 {source="MONDO:equivalentTo"}
xref: ICD10:A69.22 {source="DOID:1389"}
xref: ICD10:G62.9 {source="DOID:1389"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011115 {source="MONDO:equivalentTo", source="DOID:1389"}
xref: NCIT:C26951 {source="MONDO:equivalentTo", source="DOID:1389", source="exact-label-match"}
xref: SCTID:42345000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1389"}
xref: UMLS:C0152025 {source="MONDO:equivalentTo", source="NCIT:C26951", source="DOID:1389"}
is_a: MONDO:0005244 {source="MONDOLEX:0001824", source="NCIT:C26951", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/155080009
property_value: closeMatch http://identifiers.org/snomedct/193166009
property_value: closeMatch http://identifiers.org/snomedct/193204000
property_value: closeMatch http://identifiers.org/snomedct/194530007
property_value: closeMatch http://identifiers.org/snomedct/267706009
property_value: closeMatch http://identifiers.org/snomedct/307326004
property_value: exactMatch DOID:1389
property_value: exactMatch http://identifiers.org/mesh/D011115
property_value: exactMatch http://identifiers.org/snomedct/42345000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152025
property_value: exactMatch NCIT:C26951

[Term]
id: MONDO:0001825
name: squamous papilloma
def: "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." [NCIT:C3712]
synonym: "epidermoid cell papilloma" EXACT [NCIT:C3712]
synonym: "epidermoid papilloma" EXACT [DOID:139, NCIT:C3712]
synonym: "keratotic papilloma" EXACT [NCIT:C3712]
synonym: "papilloma, squamous cell, benign" EXACT [NCIT:C3712]
synonym: "squamous cell papilloma" EXACT [NCIT:C3712]
synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [DOID:139]
synonym: "squamous papilloma" EXACT [NCIT:C3712]
xref: DOID:139 {source="MONDO:equivalentTo"}
xref: EFO:1001970 {source="MONDO:equivalentTo"}
xref: ICDO:8052/0 {source="NCIT:C3712"}
xref: NCIT:C3712 {source="DOID:139", source="MONDO:equivalentTo"}
xref: UMLS:C0205874 {source="DOID:139", source="MONDO:equivalentTo", source="NCIT:C3712"}
is_a: MONDO:0002363 {source="DOID:139", source="NCIT:C3712"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/63451008
property_value: exactMatch DOID:139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205874
property_value: exactMatch NCIT:C3712

[Term]
id: MONDO:0001826
name: obsolete hypobetalipoproteinemia
is_obsolete: true
replaced_by: MONDO:0017774

[Term]
id: MONDO:0001827
name: white piedra
def: "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "Tinea blanca" EXACT [DOID:13902, ICD9CM_2006:111.2]
xref: COHD:132834 {source="MONDO:equivalentTo"}
xref: DOID:13902 {source="MONDO:equivalentTo"}
xref: ICD10:B36.2 {source="DOID:13902", source="MONDO:equivalentTo"}
xref: ICD9:111.2 {source="DOID:13902", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:35586003 {source="DOID:13902", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040249 {source="DOID:13902", source="MONDO:equivalentTo"}
is_a: MONDO:0000253 {source="DOID:13902", source="MONDOLEX:0001827"} ! piedra
is_a: MONDO:0000306 ! trichosporonosis
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: exactMatch DOID:13902
property_value: exactMatch http://identifiers.org/snomedct/35586003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040249

[Term]
id: MONDO:0001828
name: acquired color blindness
def: "Non-heritable difficulty in distinguishing colors." [NCIT:P378]
synonym: "acquired color vision deficiencies" EXACT [DOID:13912, ICD9CM_2006:368.55]
synonym: "acquired color vision deficiency" EXACT [DOID:13912]
synonym: "acquired color vision disorder" EXACT [MONDO:patterns/acquired]
xref: COHD:377865 {source="MONDO:equivalentTo"}
xref: DOID:13912 {source="MONDO:equivalentTo"}
xref: ICD10:H53.52 {source="DOID:13912", source="MONDO:equivalentTo"}
xref: ICD9:368.55 {source="DOID:13912", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C118712 {source="DOID:13912", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:71676008 {source="DOID:13912", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001703 {source="DOID:13912", source="MONDO:Redundant", source="MONDOLEX:0001828", source="NCIT:C118712", source="linkedlifedata"} ! color vision disorder
intersection_of: MONDO:0001703 ! color vision disorder
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155018
property_value: exactMatch DOID:13912
property_value: exactMatch http://identifiers.org/snomedct/71676008
property_value: exactMatch NCIT:C118712

[Term]
id: MONDO:0001829
name: lumbosacral plexus lesion
def: "A nerve plexus disease that involves the lumbosacral nerve plexus." [MONDO:design_pattern]
synonym: "lumbosacral nerve plexus nerve plexus disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lumbosacral plexus lesions" EXACT [DOID:13913, ICD9CM_2006:353.1]
synonym: "nerve plexus disease of lumbosacral nerve plexus" EXACT [MONDO:design_pattern]
xref: COHD:197852 {source="MONDO:equivalentTo"}
xref: DOID:13913 {source="MONDO:equivalentTo"}
xref: ICD9:353.1 {source="DOID:13913", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:4062006 {source="DOID:13913", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154735 {source="DOID:13913", source="MONDO:equivalentTo"}
is_a: MONDO:0024432 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! nerve plexus disease
property_value: exactMatch DOID:13913
property_value: exactMatch http://identifiers.org/snomedct/4062006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154735

[Term]
id: MONDO:0001830
name: somatization disorder
def: "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" [MESH:D013001]
synonym: "Briquet's disorder" EXACT [DOID:13918, MTHICD9_2006:300.81]
synonym: "Polysomatising disorder" RELATED [DOID:13918]
synonym: "Somatisation disorder" EXACT [DOID:13918]
xref: COHD:441545 {source="MONDO:equivalentTo"}
xref: DOID:13918 {source="MONDO:equivalentTo"}
xref: ICD10:F45.0 {source="MONDO:equivalentTo", source="DOID:13918"}
xref: ICD9:300.81 {source="MONDO:equivalentTo", source="DOID:13918", source="i2s"}
xref: SCTID:397923000 {source="MONDO:equivalentTo", source="DOID:13918", source="MONDO:kboom-pr-0.95/0.75/2.11"}
is_a: MONDO:0003117 {source="DOID:13918", source="linkedlifedata"} ! somatoform disorder
property_value: closeMatch http://identifiers.org/snomedct/154892001
property_value: closeMatch http://identifiers.org/snomedct/191743005
property_value: closeMatch http://identifiers.org/snomedct/192431008
property_value: closeMatch http://identifiers.org/snomedct/397795007
property_value: closeMatch http://identifiers.org/snomedct/397826007
property_value: closeMatch http://identifiers.org/snomedct/60368009
property_value: closeMatch http://identifiers.org/snomedct/9514005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520482
property_value: exactMatch DOID:13918
property_value: exactMatch http://identifiers.org/snomedct/397923000

[Term]
id: MONDO:0001831
name: irregular astigmatism
xref: COHD:377558 {source="MONDO:equivalentTo"}
xref: DOID:13919 {source="MONDO:equivalentTo"}
xref: ICD10:H52.21 {source="DOID:13919"}
xref: ICD9:367.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:13919"}
xref: SCTID:47099006 {source="MONDO:equivalentTo", source="DOID:13919", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152194 {source="MONDO:equivalentTo", source="DOID:13919"}
is_a: MONDO:0011284 {source="DOID:13919", source="linkedlifedata"} ! astigmatism (disease)
property_value: exactMatch DOID:13919
property_value: exactMatch http://identifiers.org/snomedct/47099006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152194

[Term]
id: MONDO:0001832
name: bacterial esophagitis
def: "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." [NCIT:C27106]
synonym: "bacterial esophagitis" EXACT [NCIT:C27106]
xref: DOID:13921 {source="MONDO:equivalentTo"}
xref: NCIT:C27106 {source="DOID:13921", source="MONDO:equivalentTo"}
xref: SCTID:235601001 {source="DOID:13921", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0341108 {source="DOID:13921", source="MONDO:equivalentTo", source="NCIT:C27106"}
is_a: MONDO:0001409 {source="DOID:13921", source="MONDO:Redundant", source="NCIT:C27106"} ! esophagitis (disease)
is_a: MONDO:0043424 ! digestive system infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:13921
property_value: exactMatch http://identifiers.org/snomedct/235601001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341108
property_value: exactMatch NCIT:C27106

[Term]
id: MONDO:0001833
name: lacrimal duct obstruction
def: "Blockage of the tear duct." [NCIT:P378]
synonym: "blocked lacrimal canaliculus" EXACT [DOID:13929]
synonym: "obstruction of lacrimal canaliculus" EXACT [DOID:13929]
synonym: "obstruction of lacrimal ducts" EXACT [DOID:13929]
xref: DOID:13929 {source="MONDO:equivalentTo"}
xref: MESH:D007767 {source="MONDO:equivalentTo", source="DOID:13929", source="MONDO:ontobio"}
xref: SCTID:416920000 {source="MONDO:equivalentTo", source="DOID:13929", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0044984 ! nasolacrimal duct disease
property_value: closeMatch http://identifiers.org/snomedct/246865000
property_value: closeMatch http://identifiers.org/snomedct/95769009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022906
property_value: exactMatch DOID:13929
property_value: exactMatch http://identifiers.org/mesh/D007767
property_value: exactMatch http://identifiers.org/snomedct/416920000
property_value: exactMatch NCIT:C34757

[Term]
id: MONDO:0001834
name: visual pathway disease
def: "A disorder of the neural pathway from the optic nerve to the visual cortex." [NCIT:C35342]
comment: Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract
synonym: "disease of optic tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic tract" EXACT []
synonym: "disorder of optic tract" EXACT [MONDO:patterns/location_top]
synonym: "disorder of optic tract" RELATED [MONDO:patterns/location_top]
synonym: "optic tract disease" EXACT [MONDO:patterns/location]
synonym: "optic tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "optic tract disorder" RELATED []
synonym: "visual pathway disorder" EXACT [NCIT:C35342]
xref: DOID:1393 {source="MONDO:equivalentTo"}
xref: ICD10:H47.9 {source="DOID:1393", source="MONDO:equivalentToUnspecified"}
xref: NCIT:C35342 {source="MONDO:equivalentTo", source="DOID:1393"}
xref: SCTID:54767005 {source="MONDO:equivalentTo", source="DOID:1393"}
xref: SCTID:95776004 {source="MONDO:equivalentTo"}
xref: UMLS:C0155287 {source="NCIT:C35342", source="MONDO:equivalentTo", source="DOID:1393"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0021084 {source="NCIT:C35342"} ! vision disorder
relationship: excluded_subClassOf MONDO:0005328 {source="DOID:1393"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155191004
property_value: closeMatch http://identifiers.org/snomedct/194037001
property_value: closeMatch http://identifiers.org/snomedct/267741008
property_value: closeMatch http://identifiers.org/snomedct/267744000
property_value: exactMatch DOID:1393
property_value: exactMatch http://identifiers.org/snomedct/54767005
property_value: exactMatch http://identifiers.org/snomedct/95776004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155287
property_value: exactMatch NCIT:C35342

[Term]
id: MONDO:0001835
name: facial paralysis
def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." [MESH:D005158]
synonym: "face palsy" EXACT [MONDO:patterns/location]
synonym: "facial palsy" EXACT [DOID:13934, NCIT:C26769]
synonym: "palsy of face" EXACT [MONDO:design_pattern]
xref: DOID:13934 {source="MONDO:equivalentTo"}
xref: ICD10:G51.0 {source="DOID:13934", source="MONDO:superClassOf"}
xref: MESH:D005158 {source="DOID:13934", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:280816001 {source="DOID:13934", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0015469 {source="DOID:13934", source="MONDO:equivalentTo"}
is_a: MONDO:0006496 {source="MESH:D005158", source="MONDO:Entailed", source="MONDO:Redundant"} ! palsy
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/snomedct/155070005
property_value: closeMatch http://identifiers.org/snomedct/267703001
property_value: closeMatch http://identifiers.org/snomedct/46382007
property_value: closeMatch http://identifiers.org/snomedct/79359001
property_value: closeMatch http://identifiers.org/snomedct/90039006
property_value: exactMatch DOID:13934
property_value: exactMatch http://identifiers.org/mesh/D005158
property_value: exactMatch http://identifiers.org/snomedct/280816001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015469

[Term]
id: MONDO:0001836
name: amenorrhea (disease)
def: "The absence of menses in a woman who has achieved reproductive age." [NCIT:P378]
synonym: "absence of menstruation" EXACT [DOID:13938, ICD9CM_2006:626.0]
synonym: "amenia" EXACT [CSP2005:4001-0006, DOID:13938]
synonym: "amenorrhea" EXACT [MONDO:ambiguous]
xref: COHD:443800 {source="MONDO:equivalentTo"}
xref: DOID:13938 {source="MONDO:equivalentTo"}
xref: HP:0000141 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N91.2 {source="DOID:13938"}
xref: ICD9:626.0 {source="DOID:13938"}
xref: MESH:D000568 {source="DOID:13938", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C61443 {source="DOID:13938", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0002453 {source="DOID:13938", source="MONDO:equivalentTo", source="NCIT:C61443"}
is_a: MONDO:0002263 {source="DOID:13938", source="NCIT:C61443/inferred"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/14302001
property_value: closeMatch http://identifiers.org/snomedct/156034000
property_value: closeMatch http://identifiers.org/snomedct/156037007
property_value: closeMatch http://identifiers.org/snomedct/198414005
property_value: exactMatch DOID:13938
property_value: exactMatch http://identifiers.org/mesh/D000568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002453
property_value: exactMatch NCIT:C61443

[Term]
id: MONDO:0001837
name: acute gonococcal salpingitis
def: "Acute form of gonococcal salpingitis." [MONDO:patterns/acute]
synonym: "gonococcal salpingitis, acute" EXACT [MONDO:patterns/acute]
synonym: "gonococcal salpingitis, specified as acute" EXACT [DOID:13942, ICD9CM_2006:098.17]
xref: COHD:200334 {source="MONDO:equivalentTo"}
xref: DOID:13942 {source="MONDO:equivalentTo"}
xref: ICD9:098.17 {source="DOID:13942"}
xref: SCTID:45377007 {source="DOID:13942", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0275654 {source="DOID:13942", source="MONDO:equivalentTo"}
is_a: MONDO:0001173 {source="DOID:13942", source="MONDO:Redundant", source="MONDOLEX:0001837", source="linkedlifedata"} ! acute salpingitis
is_a: MONDO:0021159 {source="MONDO:Redundant", source="MONDOLEX:0001837", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal salpingitis
property_value: exactMatch DOID:13942
property_value: exactMatch http://identifiers.org/snomedct/45377007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275654

[Term]
id: MONDO:0001838
name: acute gonococcal prostatitis
def: "Acute form of gonococcal prostatitis." [MONDO:patterns/acute]
synonym: "acute gonococcal prostatitis" EXACT [DOID:13943]
synonym: "gonococcal prostatitis" BROAD [DOID:13943, MTHICD9_2006:098.12]
synonym: "gonococcal prostatitis (acute)" EXACT [DOID:13943, ICD9CM_2006:098.12]
synonym: "gonococcal prostatitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13943 {source="MONDO:equivalentTo"}
xref: ICD9:098.12 {source="DOID:13943", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:111806005 {source="DOID:13943", source="MONDO:kboom-pr-0.93/0.68/1.83", source="MONDO:equivalentTo"}
xref: UMLS:C0153192 {source="DOID:13943", source="MONDO:equivalentTo"}
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0021161 {source="MONDO:Redundant", source="MONDOLEX:0001838", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal prostatitis
property_value: exactMatch DOID:13943
property_value: exactMatch http://identifiers.org/snomedct/111806005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153192

[Term]
id: MONDO:0001839
name: obsolete interstitial cystitis
is_obsolete: true
replaced_by: MONDO:0018301

[Term]
id: MONDO:0001840
name: obsolete schistosomiasis
is_obsolete: true
replaced_by: MONDO:0015254

[Term]
id: MONDO:0001841
name: uterine corpus epithelioid leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." [NCIT:C40164]
xref: DOID:13951 {source="MONDO:equivalentTo"}
xref: NCIT:C40164 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:13951"}
xref: UMLS:C1519850 {source="MONDO:equivalentTo", source="NCIT:C40164", source="DOID:13951"}
is_a: MONDO:0007886 {source="DOID:13951", source="NCIT:C40164"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13951
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519850
property_value: exactMatch NCIT:C40164

[Term]
id: MONDO:0001842
name: uterine corpus dissecting leiomyoma
def: "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." [NCIT:P378]
synonym: "Cotyledonoid dissecting leiomyoma" EXACT [NCIT:C40172]
synonym: "Sternberg tumor" EXACT [NCIT:C40172]
xref: DOID:13953 {source="MONDO:equivalentTo"}
xref: NCIT:C40172 {source="DOID:13953", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1519847 {source="DOID:13953", source="MONDO:equivalentTo", source="NCIT:C40172"}
is_a: MONDO:0007886 {source="DOID:13953", source="NCIT:C40172"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519847
property_value: exactMatch NCIT:C40172

[Term]
id: MONDO:0001843
name: uterus interstitial leiomyoma
synonym: "intramural leiomyoma of uterus" EXACT [DOID:13955, ICD9CM_2006:218.1]
xref: COHD:192854 {source="MONDO:equivalentTo"}
xref: DOID:13955 {source="MONDO:equivalentTo"}
xref: ICD10:D25.1 {source="DOID:13955", source="MONDO:equivalentTo"}
xref: ICD9:218.1 {source="DOID:13955", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:93616000 {source="DOID:13955", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153994 {source="DOID:13955", source="MONDO:equivalentTo"}
is_a: MONDO:0007886 {source="DOID:13955", source="linkedlifedata"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13955
property_value: exactMatch http://identifiers.org/snomedct/93616000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153994

[Term]
id: MONDO:0001844
name: uterine corpus myxoid leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma." [NCIT:C40166]
xref: DOID:13956 {source="MONDO:equivalentTo"}
xref: NCIT:C40166 {source="DOID:13956", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519860 {source="DOID:13956", source="MONDO:equivalentTo", source="NCIT:C40166"}
is_a: MONDO:0007886 {source="DOID:13956", source="NCIT:C40166"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13956
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519860
property_value: exactMatch NCIT:C40166

[Term]
id: MONDO:0001845
name: uterine corpus lipoleiomyoma
def: "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." [NCIT:C40168]
synonym: "uterine corpus lipomatous leiomyoma" EXACT [NCIT:C40168]
xref: DOID:13957 {source="MONDO:equivalentTo"}
xref: EFO:1000614 {source="MONDO:equivalentTo"}
xref: NCIT:C40168 {source="DOID:13957", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519856 {source="DOID:13957", source="MONDO:equivalentTo", source="NCIT:C40168"}
is_a: MONDO:0007886 {source="DOID:13957", source="NCIT:C40168"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519856
property_value: exactMatch NCIT:C40168

[Term]
id: MONDO:0001846
name: uterine corpus bizarre leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei." [NCIT:C40167]
synonym: "bizarre leiomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "body of uterus bizarre leiomyoma" EXACT [MONDO:patterns/location]
synonym: "uterine corpus bizarre leiomyoma" EXACT [NCIT:C40167]
synonym: "uterine corpus leiomyoma with bizarre nuclei" EXACT [NCIT:C40167]
synonym: "uterine corpus leiomyoma, atypical variant" EXACT [NCIT:C40167]
synonym: "uterine corpus Symplastic leiomyoma" EXACT [DOID:13958, NCIT:C40167]
xref: DOID:13958 {source="MONDO:equivalentTo"}
xref: NCIT:C40167 {source="DOID:13958", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519853 {source="DOID:13958", source="MONDO:equivalentTo", source="NCIT:C40167"}
is_a: MONDO:0003288 {source="DOID:13958", source="MONDO:Redundant", source="MONDOLEX:0001846", source="NCIT:C40167"} ! bizarre leiomyoma
is_a: MONDO:0007886 {source="MONDO:Redundant", source="MONDOLEX:0001846", source="NCIT:C40167"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:13958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519853
property_value: exactMatch NCIT:C40167

[Term]
id: MONDO:0001847
name: nuclear senile cataract
def: "A senile cataract that involves the lens nucleus." [MONDO:design_pattern]
synonym: "lens nucleus senile cataract" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "senile cataract of lens nucleus" EXACT [MONDO:design_pattern]
synonym: "Senile nuclear cataract" EXACT [DOID:13963]
synonym: "Senile nuclear sclerosis" EXACT [DOID:13963, ICD9CM_2006:366.16]
xref: COHD:439297 {source="MONDO:equivalentTo"}
xref: DOID:13963 {source="MONDO:equivalentTo"}
xref: ICD9:366.16 {source="MONDO:equivalentTo", source="i2s", source="DOID:13963"}
xref: SCTID:193589009 {source="MONDO:equivalentTo", source="DOID:13963", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004847 {source="DOID:13963", source="MONDO:Redundant", source="MONDOLEX:0001847", source="linkedlifedata"} ! senile cataract
is_a: MONDO:0045050 ! nuclear cataract
property_value: closeMatch http://identifiers.org/snomedct/46129005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271166
property_value: exactMatch DOID:13963
property_value: exactMatch http://identifiers.org/snomedct/193589009

[Term]
id: MONDO:0001848
name: Morgagni cataract
def: "a form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." [http://eyewiki.aao.org/Morgagnian_Cataract]
synonym: "hypermature cataract" BROAD [DOID:13964, ICD9CM_2006:366.18]
synonym: "Morgagnian cataract" EXACT []
xref: COHD:379811 {source="MONDO:equivalentTo"}
xref: DOID:13964 {source="MONDO:equivalentTo"}
xref: ICD9:366.18 {source="DOID:13964", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:264443002 {source="DOID:13964", source="MONDO:equivalentTo"}
xref: UMLS:C0152258 {source="DOID:13964", source="MONDO:equivalentTo"}
is_a: MONDO:0045049 {source="http://eyewiki.aao.org/Morgagnian_Cataract", source="linkedlifedata"} ! hypermature cataract
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13964"} ! senile cataract
property_value: closeMatch http://identifiers.org/snomedct/193591001
property_value: closeMatch http://identifiers.org/snomedct/22315007
property_value: closeMatch http://identifiers.org/snomedct/247065006
property_value: exactMatch DOID:13964
property_value: exactMatch http://identifiers.org/snomedct/264443002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152258

[Term]
id: MONDO:0001849
name: chronic orbital inflammation
synonym: "chronic inflammation of orbit" EXACT [DOID:1397]
xref: COHD:433773 {source="MONDO:equivalentTo"}
xref: DOID:1397 {source="MONDO:equivalentTo"}
xref: ICD10:H05.1 {source="DOID:1397"}
xref: ICD9:376.1 {source="DOID:1397"}
xref: ICD9:376.10 {source="DOID:1397", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:44729001 {source="DOID:1397", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155261 {source="DOID:1397", source="MONDO:equivalentTo"}
is_a: MONDO:0004751 {source="DOID:1397"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/194007005
property_value: closeMatch http://identifiers.org/snomedct/194011004
property_value: exactMatch DOID:1397
property_value: exactMatch http://identifiers.org/snomedct/44729001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155261

[Term]
id: MONDO:0001850
name: female breast lower-outer quadrant cancer
synonym: "malignant neoplasm of lower-outer quadrant of female breast" EXACT [DOID:13972]
xref: DOID:13972 {source="MONDO:equivalentTo"}
xref: ICD10:C50.51 {source="DOID:13972"}
xref: ICD9:174.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:13972"}
xref: SCTID:188155002 {source="MONDO:equivalentTo", source="DOID:13972", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153553 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:13972"}
is_a: MONDO:0004379 {source="DOID:13972", source="linkedlifedata"} ! female breast carcinoma
property_value: exactMatch DOID:13972
property_value: exactMatch http://identifiers.org/snomedct/188155002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153553

[Term]
id: MONDO:0001851
name: primary lacrimal atrophy
xref: COHD:380107 {source="MONDO:equivalentTo"}
xref: DOID:1399 {source="MONDO:equivalentTo"}
xref: ICD9:375.13 {source="DOID:1399", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:17093002 {source="DOID:1399", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155229 {source="DOID:1399", source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="DOID:1399", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
property_value: closeMatch http://identifiers.org/snomedct/193978007
property_value: exactMatch DOID:1399
property_value: exactMatch http://identifiers.org/snomedct/17093002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155229

[Term]
id: MONDO:0001852
name: small intestine lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." [NCIT:P378]
synonym: "lymphoma of small bowel" EXACT [NCIT:C4007]
synonym: "lymphoma of small intestine" EXACT [NCIT:C4007]
synonym: "lymphoma of the small bowel" EXACT [NCIT:C4007]
synonym: "lymphoma of the small intestine" EXACT [NCIT:C4007]
synonym: "primary small intestinal lymphoma" EXACT [NCIT:C4007]
synonym: "small bowel lymphoma" EXACT [NCIT:C4007]
synonym: "small intestinal lymphoma" EXACT [DOID:13996, NCIT:C4007]
synonym: "small intestine lymphoma" EXACT [MONDO:patterns/location, NCIT:C4007]
xref: DOID:13996 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4007 {source="MONDO:equivalentTo", source="DOID:13996", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:449074003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75", source="DOID:13996"}
xref: UMLS:C0278805 {source="MONDO:equivalentTo", source="NCIT:C4007", source="DOID:13996"}
is_a: MONDO:0000956 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007"} ! small intestine cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4007", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastrointestinal lymphoma
property_value: exactMatch DOID:13996
property_value: exactMatch http://identifiers.org/snomedct/449074003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278805
property_value: exactMatch NCIT:C4007

[Term]
id: MONDO:0001853
name: contact blepharoconjunctivitis
xref: COHD:374959 {source="MONDO:equivalentTo"}
xref: DOID:13999 {source="MONDO:equivalentTo"}
xref: ICD10:H10.53 {source="DOID:13999"}
xref: ICD9:372.22 {source="DOID:13999", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:10813004 {source="DOID:13999", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155150 {source="DOID:13999", source="MONDO:equivalentTo"}
is_a: MONDO:0002307 {source="DOID:13999", source="MONDOLEX:0001853", source="linkedlifedata"} ! blepharoconjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193872007
property_value: exactMatch DOID:13999
property_value: exactMatch http://identifiers.org/snomedct/10813004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155150

[Term]
id: MONDO:0001854
name: lacrimal apparatus disease
def: "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." [NCIT:C26809]
synonym: "disease of lacrimal apparatus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lacrimal apparatus" EXACT []
synonym: "disorder of lacrimal apparatus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lacrimal apparatus" RELATED [MONDO:patterns/location_top]
synonym: "disorder of lacrimal system" EXACT [NCIT:C26809]
synonym: "lachrymal system disorders" RELATED []
synonym: "lacrimal apparatus disease" EXACT [MONDO:patterns/location]
synonym: "lacrimal apparatus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lacrimal system disease" EXACT [MONDO:0021628]
synonym: "lacrimal system disorder" EXACT [NCIT:C26809]
xref: DOID:1400 {source="MONDO:equivalentTo"}
xref: ICD10:H04 {source="DOID:1400"}
xref: ICD10:H04.9 {source="DOID:1400"}
xref: ICD9:375 {source="DOID:1400"}
xref: ICD9:375.69 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:375.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:375.9 {source="MONDO:equivalentTo", source="DOID:1400", source="i2s"}
xref: NCIT:C26809 {source="MONDO:equivalentTo", source="DOID:1400"}
xref: SCTID:31053003 {source="MONDO:equivalentTo", source="DOID:1400"}
is_a: MONDO:0000462 ! eye adnexa disease
is_a: MONDO:0005328 {source="DOID:1400", source="MONDO:Entailed", source="NCIT:C26809"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155181005
property_value: closeMatch http://identifiers.org/snomedct/155185001
property_value: closeMatch http://identifiers.org/snomedct/194003009
property_value: closeMatch http://identifiers.org/snomedct/267740009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022904
property_value: exactMatch DOID:1400
property_value: exactMatch http://identifiers.org/snomedct/31053003
property_value: exactMatch NCIT:C26809

[Term]
id: MONDO:0001855
name: rubeosis iridis
xref: COHD:440098 {source="MONDO:equivalentTo"}
xref: DOID:14000 {source="MONDO:equivalentTo"}
xref: ICD10:H21.1 {source="DOID:14000"}
xref: ICD9:364.42 {source="MONDO:equivalentTo", source="i2s", source="DOID:14000"}
xref: SCTID:51995000 {source="MONDO:equivalentTo", source="DOID:14000", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154916 {source="MONDO:equivalentTo", source="DOID:14000"}
is_a: MONDO:0005283 {source="DOID:14000"} ! retinal disease
property_value: exactMatch DOID:14000
property_value: exactMatch http://identifiers.org/snomedct/51995000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154916

[Term]
id: MONDO:0001856
name: splenic artery aneurysm
xref: COHD:194964 {source="MONDO:equivalentTo"}
xref: DOID:14006 {source="MONDO:equivalentTo"}
xref: ICD9:442.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:14006"}
xref: SCTID:70405009 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo", source="DOID:14006"}
xref: UMLS:C0155747 {source="MONDO:equivalentTo", source="DOID:14006"}
is_a: MONDO:0000473 {source="DOID:14006", source="linkedlifedata/inferred"} ! arterial disorder
property_value: exactMatch DOID:14006
property_value: exactMatch http://identifiers.org/snomedct/70405009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155747

[Term]
id: MONDO:0001857
name: Brucella canis brucellosis
def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly." [DOID:14019, http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, PMID:1172954]
xref: DOID:14019 {source="MONDO:equivalentTo"}
xref: ICD10:A23.3 {source="DOID:14019"}
xref: ICD9:023.3 {source="DOID:14019"}
xref: SCTID:428174001 {source="DOID:14019", source="MONDO:equivalentTo"}
xref: UMLS:C0494040 {source="DOID:14019", source="MONDO:equivalentTo"}
is_a: MONDO:0005683 {source="DOID:14019", source="linkedlifedata"} ! brucellosis
property_value: closeMatch http://identifiers.org/snomedct/186308009
property_value: closeMatch http://identifiers.org/snomedct/78576009
property_value: exactMatch DOID:14019
property_value: exactMatch http://identifiers.org/snomedct/428174001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494040

[Term]
id: MONDO:0001858
name: Tietze syndrome
def: "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.)" [MESH:D013991]
synonym: "Chondropathia tuberosa" RELATED [GARD:0010100]
synonym: "Costalchondritis" EXACT [DOID:14021]
synonym: "costochondral joint syndromic disease" EXACT [MONDO:patterns/location]
synonym: "costochondral junction syndrome" EXACT [DOID:14021, MTHICD9_2006:733.6]
synonym: "Costochondritis" EXACT [DOID:14021]
synonym: "slipping rib syndrome" EXACT [DOID:14021]
synonym: "syndromic disease of costochondral joint" EXACT [MONDO:design_pattern]
synonym: "Tietze syndrome" EXACT [DOID:14021]
synonym: "Tietze's disease" EXACT [DOID:14021, ICD9CM_2006:733.6]
synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: COHD:134461 {source="MONDO:equivalentTo"}
xref: DOID:14021 {source="MONDO:equivalentTo"}
xref: GARD:0010100 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:M94.0 {source="DOID:14021"}
xref: ICD9:733.6 {source="DOID:14021", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013991 {source="DOID:14021", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:30128009 {source="DOID:14021", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.59"}
xref: UMLS:C0040213 {source="DOID:14021", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:14021", source="MONDO:Redundant", source="MONDOLEX:0001858"} ! syndromic disease
is_a: MONDO:0005569 {source="DOID:14021", source="MESH:D013991", source="linkedlifedata", source="linkedlifedata/inferred"} ! cartilage disease
is_a: MONDO:0006816 ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/156848001
property_value: closeMatch http://identifiers.org/snomedct/203323007
property_value: closeMatch http://identifiers.org/snomedct/203523006
property_value: closeMatch http://identifiers.org/snomedct/203529005
property_value: closeMatch http://identifiers.org/snomedct/240136001
property_value: closeMatch http://identifiers.org/snomedct/268130001
property_value: closeMatch http://identifiers.org/snomedct/393606005
property_value: closeMatch http://identifiers.org/snomedct/64109004
property_value: closeMatch http://identifiers.org/snomedct/91226007
property_value: exactMatch DOID:14021
property_value: exactMatch http://identifiers.org/mesh/D013991
property_value: exactMatch http://identifiers.org/snomedct/30128009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040213

[Term]
id: MONDO:0001859
name: algoneurodystrophy
xref: DOID:14022 {source="MONDO:equivalentTo"}
xref: ICD10:M89.0 {source="MONDO:equivalentTo", source="DOID:14022"}
xref: ICD10:M89.00 {source="DOID:14022"}
xref: ICD9:733.7 {source="DOID:14022", source="MONDO:directSiblingOf"}
is_a: MONDO:0019369 {source="DOID:14022"} ! complex regional pain syndrome
property_value: closeMatch http://identifiers.org/snomedct/203490000
property_value: closeMatch http://identifiers.org/snomedct/203496006
property_value: closeMatch http://identifiers.org/snomedct/7359008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205930
property_value: exactMatch DOID:14022

[Term]
id: MONDO:0001860
name: folic acid deficiency anemia
synonym: "folate deficiency anemia" EXACT [DOID:14026]
synonym: "folate-deficiency anemia" EXACT [DOID:14026, ICD9CM_2006:281.2]
synonym: "folate-deficient megaloblastic anaemia" EXACT [DOID:14026]
xref: DOID:14026 {source="MONDO:equivalentTo"}
xref: ICD10:D52 {source="DOID:14026"}
xref: ICD10:D52.9 {source="DOID:14026"}
xref: ICD9:281.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:14026"}
xref: SCTID:85649008 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="MONDO:equivalentTo", source="DOID:14026"}
xref: UMLS:C0151482 {source="MONDO:equivalentTo", source="DOID:14026"}
is_a: MONDO:0006873 {source="DOID:14026", source="linkedlifedata"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/snomedct/154791000
property_value: closeMatch http://identifiers.org/snomedct/191152006
property_value: exactMatch DOID:14026
property_value: exactMatch http://identifiers.org/snomedct/85649008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151482

[Term]
id: MONDO:0001861
name: malignant parietal pleura tumor
synonym: "primary malignant neoplasm of parietal pleura" EXACT [DOID:14032]
xref: DOID:14032 {source="MONDO:equivalentTo"}
xref: SCTID:93948004 {source="DOID:14032", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153495 {source="MEDGEN:kboom-pr98-c99", source="DOID:14032", source="MONDO:equivalentTo"}
is_a: MONDO:0006294 {source="DOID:14032", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural cancer
property_value: exactMatch DOID:14032
property_value: exactMatch http://identifiers.org/snomedct/93948004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153495

[Term]
id: MONDO:0001862
name: malignant visceral pleura tumor
synonym: "primary malignant neoplasm of visceral pleura" EXACT [DOID:14033]
xref: DOID:14033 {source="MONDO:equivalentTo"}
xref: SCTID:94140004 {source="MONDO:equivalentTo", source="DOID:14033", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153496 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:14033"}
is_a: MONDO:0006294 {source="DOID:14033", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural cancer
property_value: exactMatch DOID:14033
property_value: exactMatch http://identifiers.org/snomedct/94140004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153496

[Term]
id: MONDO:0001863
name: aorta atresia
def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." [DOID:14037, https://secure.ssa.gov/poms.nsf/lnx/0423022540]
synonym: "atresia and stenosis of aorta" EXACT [DOID:14037]
synonym: "congenital atresia and stenosis of aorta" EXACT [DOID:14037, ICD9CM_2006:747.22]
xref: DOID:14037 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.2 {source="MONDO:equivalentTo"}
xref: ICD9:747.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:14037"}
xref: SCTID:204431007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.55", source="DOID:14037"}
is_a: MONDO:0005561 {source="DOID:14037", source="linkedlifedata", source="linkedlifedata/inferred"} ! aortic disease
property_value: closeMatch http://identifiers.org/snomedct/204438001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345010
property_value: exactMatch DOID:14037
property_value: exactMatch http://identifiers.org/snomedct/204431007

[Term]
id: MONDO:0001864
name: residual stage angle-closure glaucoma
synonym: "residual stage of angle-closure glaucoma" EXACT [DOID:1404, ICD9CM_2006:365.24]
xref: COHD:436109 {source="MONDO:equivalentTo"}
xref: DOID:1404 {source="MONDO:equivalentTo"}
xref: ICD10:H40.24 {source="DOID:1404"}
xref: ICD9:365.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:1404"}
xref: SCTID:55129006 {source="MONDO:equivalentTo", source="DOID:1404", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154948 {source="MONDO:equivalentTo", source="DOID:1404"}
is_a: MONDO:0001868 {source="DOID:1404"} ! primary angle-closure glaucoma
property_value: exactMatch DOID:1404
property_value: exactMatch http://identifiers.org/snomedct/55129006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154948

[Term]
id: MONDO:0001865
name: obsolete autoimmune polyendocrinopathy syndrome
is_obsolete: true
replaced_by: MONDO:0017278

[Term]
id: MONDO:0001866
name: bipolar I disorder
def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [DOID:14042, http://en.wikipedia.org/wiki/Bipolar_I]
synonym: "bipolar 1 disorder" EXACT []
synonym: "bipolar I disorder" EXACT []
xref: COHD:432876 {source="MONDO:equivalentTo"}
xref: DOID:14042 {source="MONDO:equivalentTo"}
xref: ICD9:296.50 {source="DOID:14042"}
xref: ICD9:296.7 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:371596008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.50"}
is_a: MONDO:0004985 {source="DOID:14042", source="linkedlifedata"} ! bipolar disorder
property_value: closeMatch http://identifiers.org/snomedct/49468007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236773
property_value: exactMatch DOID:14042
property_value: exactMatch http://identifiers.org/snomedct/371596008

[Term]
id: MONDO:0001867
name: phaeohyphomycosis
def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/]
subset: gard_rare {source="GARD:0012803"}
synonym: "infection by dematiacious fungi" EXACT [DOID:14049, MTHICD9_2006:117.8]
synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM_2006:117.8]
synonym: "phaehyphomycosis" EXACT [DOID:14049]
xref: COHD:438365 {source="MONDO:equivalentTo"}
xref: DOID:14049 {source="MONDO:equivalentTo"}
xref: GARD:0012803 {source="MONDO:equivalentTo"}
xref: ICD9:117.8 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D060446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:47158003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0002312 ! opportunistic mycosis
is_a: MONDO:0044083 ! alternariosis
relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14049"} ! primary systemic mycosis
property_value: exactMatch DOID:14049
property_value: exactMatch http://identifiers.org/mesh/D060446
property_value: exactMatch http://identifiers.org/snomedct/47158003
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis xsd:anyURI {source="GARD:0012803"}

[Term]
id: MONDO:0001868
name: primary angle-closure glaucoma
def: "A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." [NCIT:C35394]
synonym: "angle closure glaucoma" EXACT [NCIT:C34639]
synonym: "angle closure glaucoma" RELATED [NCIT:C34639]
synonym: "closed angle glaucoma" EXACT [NCIT:C34639]
synonym: "primary angle closure glaucoma" EXACT [DOID:1405, NCIT:C34640]
xref: COHD:435543 {source="MONDO:equivalentTo"}
xref: DOID:1405 {source="MONDO:equivalentTo"}
xref: EFO:1001506 {source="MONDO:equivalentTo"}
xref: ICD10:H40.2 {source="MONDO:equivalentTo", source="DOID:1405"}
xref: ICD10:H40.20 {source="DOID:1405"}
xref: ICD9:365.2 {source="DOID:1405"}
xref: ICD9:365.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:1405"}
xref: NCIT:C34639 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:392288006 {source="MONDO:equivalentTo", source="DOID:1405", source="MONDO:kboom-pr-0.96/0.92/0.08"}
xref: UMLS:C0017606 {source="MONDO:equivalentTo", source="DOID:1405"}
is_a: MONDO:0001744 {source="DOID:1405", source="MONDOLEX:0001868", source="linkedlifedata"} ! angle-closure glaucoma
property_value: closeMatch http://identifiers.org/snomedct/155123006
property_value: closeMatch http://identifiers.org/snomedct/193544008
property_value: closeMatch http://identifiers.org/snomedct/193545009
property_value: closeMatch http://identifiers.org/snomedct/193547001
property_value: closeMatch http://identifiers.org/snomedct/270882001
property_value: closeMatch http://identifiers.org/snomedct/42456004
property_value: exactMatch DOID:1405
property_value: exactMatch http://identifiers.org/snomedct/392288006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017606
property_value: exactMatch NCIT:C34639
property_value: exactMatch NCIT:C34640

[Term]
id: MONDO:0001869
name: paraurethral gland cancer
def: "A malignant neoplasm involving the paraurethral gland." [MONDO:DesignPattern]
synonym: "cancer of paraurethral gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of paraurethral gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant paraurethral gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of paraurethral gland" EXACT [DOID:14059]
synonym: "malignant tumor of the paraurethral gland" EXACT [DOID:14059, NCIT:C3561]
synonym: "paraurethral gland cancer" EXACT [MONDO:patterns/location]
xref: DOID:14059 {source="MONDO:equivalentTo"}
xref: ICD10:C68.1 {source="DOID:14059"}
xref: ICD9:189.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:14059"}
xref: SCTID:363460002 {source="MONDO:equivalentTo", source="DOID:14059", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153621 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:14059"}
is_a: MONDO:0001528 {source="MONDO:Redundant", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0002219 {source="MONDO:Redundant", source="linkedlifedata"} ! paraurethral gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93944002
property_value: exactMatch DOID:14059
property_value: exactMatch http://identifiers.org/snomedct/363460002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153621

[Term]
id: MONDO:0001870
name: acute poststreptococcal glomerulonephritis
def: "Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female." [https://clinicaltrials.gov/ct2/show/NCT03184103]
synonym: "post-streptococcal glomerulonephritis" EXACT [DOID:14064, NCIT:C35443]
xref: DOID:14064 {source="MONDO:equivalentTo"}
xref: SCTID:68544003 {source="MONDO:equivalentTo", source="DOID:14064", source="MONDO:kboom-pr-1.00/0.80/10.29"}
xref: UMLS:C0403414 {source="MONDO:equivalentTo", source="DOID:14064"}
is_a: MONDO:0002462 {source="DOID:14064", source="MONDOLEX:0001870", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:14064
property_value: exactMatch http://identifiers.org/snomedct/68544003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403414

[Term]
id: MONDO:0001871
name: acute diffuse glomerulonephritis
def: "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." [NCIT:C35587]
synonym: "acute diffuse glomerulonephritis" EXACT [DOID:14066, NCIT:C35587]
synonym: "acute diffuse nephritis" RELATED [DOID:14066]
synonym: "diffuse glomerulonephritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14066 {source="MONDO:equivalentTo"}
xref: NCIT:C35587 {source="MONDO:equivalentTo", source="DOID:14066", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:197585004 {source="MONDO:equivalentTo", source="DOID:14066"}
xref: UMLS:C0341689 {source="MONDO:equivalentTo", source="DOID:14066"}
is_a: MONDO:0003137 {source="DOID:14066", source="MONDO:Redundant", source="MONDOLEX:0001871", source="NCIT:C35587"} ! diffuse glomerulonephritis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:14066
property_value: exactMatch http://identifiers.org/snomedct/197585004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341689
property_value: exactMatch NCIT:C35587

[Term]
id: MONDO:0001872
name: obsolete vestibular nystagmus (disease)
synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [DOID:14070, ICD9CM_2006:379.54]
synonym: "vestibular nystagmus" EXACT [MONDO:ambiguous]
xref: COHD:377568 {source="MONDO:obsoleteEquivalent"}
xref: DOID:14070 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:379.54 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="i2s"}
xref: SCTID:46888001 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155379 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
relationship: excluded_subClassOf MONDO:0001524 {source="DOID:14070"} ! globe disease
property_value: exactMatch DOID:14070
property_value: exactMatch http://identifiers.org/snomedct/46888001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155379
is_obsolete: true
replaced_by: HP:0010542

[Term]
id: MONDO:0001873
name: geniculate ganglionitis
def: "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." [MESH:D005155]
synonym: "geniculate ganglion inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "geniculate ganglionitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of geniculate ganglion" EXACT []
xref: COHD:376963 {source="MONDO:equivalentTo"}
xref: DOID:14075 {source="MONDO:equivalentTo"}
xref: ICD10:G51.1 {source="MONDO:equivalentTo", source="DOID:14075"}
xref: ICD9:351.1 {source="MONDO:equivalentTo", source="DOID:14075", source="i2s"}
xref: SCTID:72839009 {source="MONDO:equivalentTo", source="DOID:14075", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017407 {source="MONDO:equivalentTo", source="DOID:14075"}
is_a: MONDO:0002098 {source="DOID:14075", source="ICD10:G51.1", source="linkedlifedata"} ! facial nerve disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0021260 ! sensory ganglionopathy
property_value: closeMatch http://identifiers.org/snomedct/155071009
property_value: closeMatch http://identifiers.org/snomedct/267704007
property_value: exactMatch DOID:14075
property_value: exactMatch http://identifiers.org/snomedct/72839009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017407

[Term]
id: MONDO:0001874
name: toxic labyrinthitis
def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." [DOID:14081, http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false, PMID:16448876]
synonym: "ototoxicity" RELATED []
xref: DOID:14081 {source="MONDO:equivalentTo"}
xref: EFO:0006951 {source="MONDO:equivalentTo"}
xref: ICD9:386.34 {source="DOID:14081", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:3344003 {source="DOID:14081", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:9062008 {source="MONDO:equivalentTo"}
xref: UMLS:C0155507 {source="DOID:14081", source="MONDO:equivalentTo"}
is_a: MONDO:0002008 {source="DOID:14081", source="DOID:14081/inferred", source="linkedlifedata"} ! labyrinthitis
property_value: exactMatch DOID:14081
property_value: exactMatch http://identifiers.org/snomedct/3344003
property_value: exactMatch http://identifiers.org/snomedct/9062008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155507

[Term]
id: MONDO:0001875
name: epicondylitis
def: "inflammation of the lateral epicondyle." [NCIT:P378]
synonym: "andrel epicondylitis" EXACT [DOID:14087]
synonym: "archer's elbow" EXACT [DOID:14087]
synonym: "ectepicondyle of humerus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "golfer's elbow" EXACT [DOID:14087]
synonym: "hockey elbow" EXACT [DOID:14087]
synonym: "inflammation of ectepicondyle of humerus" EXACT []
synonym: "lateral epicondylitis" EXACT [DOID:14087, ICD9CM_2006:726.32]
synonym: "medial epicondylitis" EXACT [DOID:14087]
synonym: "shooter's elbow" RELATED [DOID:14087]
synonym: "tennis elbow" RELATED [DOID:14087]
xref: DOID:14087 {source="MONDO:equivalentTo"}
xref: ICD10:M77.1 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: ICD9:726.32 {source="DOID:14087", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013716 {source="DOID:14087", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34589 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: SCTID:202855006 {source="DOID:14087", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
xref: UMLS:C0014488 {source="DOID:14087", source="MONDO:equivalentTo", source="NCIT:C34589"}
is_a: MONDO:0002614 {source="DOID:14087", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156659008
property_value: closeMatch http://identifiers.org/snomedct/24133009
property_value: closeMatch http://identifiers.org/snomedct/268088003
property_value: closeMatch http://identifiers.org/snomedct/73583000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039516
property_value: closeMatch NCIT:C35067
property_value: exactMatch DOID:14087
property_value: exactMatch http://identifiers.org/mesh/D013716
property_value: exactMatch http://identifiers.org/snomedct/202855006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014488
property_value: exactMatch NCIT:C34589

[Term]
id: MONDO:0001876
name: renal artery atheroma
def: "A atherosclerosis that involves the renal artery." [MONDO:patterns/location]
synonym: "atherosclerosis of renal artery" EXACT [DOID:14092, ICD9CM_2006:440.1]
synonym: "renal artery atherosclerosis" EXACT [MONDO:patterns/location]
synonym: "renal atherosclerosis" EXACT [DOID:14092]
xref: COHD:195834 {source="MONDO:equivalentTo"}
xref: DOID:14092 {source="MONDO:equivalentTo"}
xref: ICD10:I70.1 {source="DOID:14092", source="MONDO:equivalentTo"}
xref: ICD9:440.1 {source="DOID:14092", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:45281005 {source="DOID:14092", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155734 {source="DOID:14092", source="MONDO:equivalentTo"}
is_a: MONDO:0000980 ! aortic atherosclerosis (disease)
is_a: MONDO:0002286 {source="DOID:14092", source="linkedlifedata"} ! renal artery disease
property_value: closeMatch http://identifiers.org/snomedct/155416004
property_value: exactMatch DOID:14092
property_value: exactMatch http://identifiers.org/snomedct/45281005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155734

[Term]
id: MONDO:0001877
name: infertility due to extratesticular cause
synonym: "infertility due to extratesticular causes" EXACT [DOID:14096, ICD9CM_2006:606.8]
xref: COHD:201354 {source="MONDO:equivalentTo"}
xref: DOID:14096 {source="MONDO:equivalentTo"}
xref: ICD9:606.8 {source="DOID:14096", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:84245004 {source="DOID:14096", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0021360 {source="DOID:14096", source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="DOID:14096", source="linkedlifedata"} ! male infertility
property_value: closeMatch http://identifiers.org/snomedct/198011008
property_value: closeMatch http://identifiers.org/snomedct/198017007
property_value: exactMatch DOID:14096
property_value: exactMatch http://identifiers.org/snomedct/84245004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021360

[Term]
id: MONDO:0001878
name: acquired hypertrophic pyloric stenosis
def: "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired gastric outlet stenosis" EXACT [DOID:14099]
synonym: "acquired hypertrophic pyloric stenosis" EXACT [DOID:14099, MONDO:patterns/acquired]
synonym: "adult hypertrophic pyloric stenosis" EXACT [DOID:14099]
xref: COHD:198191 {source="MONDO:equivalentTo"}
xref: DOID:14099 {source="MONDO:equivalentTo"}
xref: ICD9:537.0 {source="DOID:14099"}
xref: SCTID:266438007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11"}
xref: UMLS:C2937286 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0001560 ! hypertrophic pyloric stenosis
intersection_of: MONDO:0001560 ! hypertrophic pyloric stenosis
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://identifiers.org/snomedct/13483000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700588
property_value: exactMatch DOID:14099
property_value: exactMatch http://identifiers.org/snomedct/266438007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937286

[Term]
id: MONDO:0001879
name: anus cancer
def: "A malignant neoplasm involving the anus" [MONDO:DesignPattern]
synonym: "anal cancer" EXACT EXCLUDE [DOID:14110]
synonym: "anus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of anus" EXACT [MONDO:patterns/cancer]
synonym: "malignant anal neoplasm" EXACT [NCIT:C7379]
synonym: "malignant anal tumor" EXACT [DOID:14110, NCIT:C7379]
synonym: "malignant anus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anus" EXACT [MONDO:patterns/cancer, NCIT:C7379]
synonym: "malignant neoplasm of the anus" EXACT [NCIT:C7379]
synonym: "malignant tumor of anus" EXACT [NCIT:C7379]
synonym: "malignant tumor of the anus" EXACT [NCIT:C7379]
xref: DOID:14110 {source="MONDO:equivalentTo"}
xref: GARD:0009300 {source="MONDO:equivalentTo"}
xref: ICD10:C21.0 {source="DOID:14110"}
xref: ICD10:C21.1 {source="DOID:14110"}
xref: ICD9:154.2 {source="MONDO:relatedTo", source="DOID:14110"}
xref: ICD9:154.3 {source="DOID:14110"}
xref: NCIT:C7379 {source="MONDO:equivalentTo", source="DOID:14110", source="MONDO:kboom-pr-0.98/0.75/3.46"}
is_a: MONDO:0003046 {source="MONDO:Redundant", source="NCIT:C7379"} ! anus neoplasm
is_a: MONDO:0006519 ! rectal cancer
property_value: closeMatch http://identifiers.org/snomedct/187762000
property_value: closeMatch http://identifiers.org/snomedct/187764004
property_value: closeMatch http://identifiers.org/snomedct/363490009
property_value: closeMatch http://identifiers.org/snomedct/93669004
property_value: closeMatch http://identifiers.org/snomedct/93676009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153446
property_value: exactMatch DOID:14110
property_value: exactMatch NCIT:C7379

[Term]
id: MONDO:0001880
name: median rhomboid glossitis
synonym: "persistent tuberculum impar" EXACT [DOID:14111]
xref: DOID:14111 {source="MONDO:equivalentTo"}
xref: ICD10:K14.2 {source="MONDO:equivalentTo", source="DOID:14111"}
xref: ICD9:529.2 {source="MONDO:equivalentTo", source="DOID:14111", source="i2s"}
xref: ICD9:750.19 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:7522008 {source="MONDO:equivalentTo", source="DOID:14111", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006771 {source="DOID:14111", source="linkedlifedata"} ! glossitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155963
property_value: exactMatch DOID:14111
property_value: exactMatch http://identifiers.org/snomedct/7522008

[Term]
id: MONDO:0001881
name: toxic shock syndrome
def: "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." [https://en.wikipedia.org/wiki/Toxic_shock_syndrome, MONDO:cjm, NCIT:C35498]
subset: ordo_disease {source="Orphanet:36234"}
synonym: "bacterial toxic-shock syndrome" EXACT [MONDO:0018179]
synonym: "bacterial TSS" EXACT [Orphanet:36234]
synonym: "shock syndrome (TSS), toxic" EXACT [NCIT:C35498]
synonym: "staphylococcal toxic shock syndrome" RELATED [GARD:0009560]
synonym: "syndrome (TSS), toxic shock" EXACT [NCIT:C35498]
synonym: "toxic shock" EXACT [DOID:14115]
synonym: "toxic shock syndrome" EXACT [DOID:14115, ICD9CM_2006:040.82, NCIT:C35498]
synonym: "toxic shock syndrome, (TSS)" EXACT [NCIT:C35498]
synonym: "TSS" EXACT [CSP2005:0368-3426, DOID:14115]
synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498]
xref: COHD:201214 {source="MONDO:equivalentTo"}
xref: DOID:14115 {source="MONDO:equivalentTo"}
xref: GARD:0009560 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A48.3 {source="MONDO:equivalentTo", source="ORDO:36234/e", source="DOID:14115", source="Orphanet:36234"}
xref: ICD9:040.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:14115"}
xref: MESH:D012772 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14115"}
xref: NCIT:C35498 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14115"}
xref: Orphanet:36234 {source="MONDO:equivalentTo"}
xref: SCTID:18504008 {source="MONDO:equivalentTo", source="DOID:14115", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0600327 {source="MONDO:equivalentTo", source="NCIT:C35498", source="DOID:14115"}
xref: UMLS:CN204669 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000315 {source="DOID:14115"} ! commensal bacterial infectious disease
is_a: MONDO:0002254 {source="MONDOLEX:0001881", source="NCIT:C35498"} ! syndromic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:14115
property_value: exactMatch http://identifiers.org/mesh/D012772
property_value: exactMatch http://identifiers.org/snomedct/18504008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600327
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204669
property_value: exactMatch NCIT:C35498
property_value: exactMatch Orphanet:36234

[Term]
id: MONDO:0001882
name: bacteriuria (disease)
def: "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection." [MESH:D001437]
synonym: "bacteriuria" EXACT [MONDO:ambiguous]
xref: CSP:3045-9976 {source="DOID:1412"}
xref: DOID:1412 {source="MONDO:equivalentTo"}
xref: HP:0012461 {source="DOID:1412", source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10004056 {source="DOID:1412"}
xref: MESH:D001437 {source="DOID:1412", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0004659 {source="DOID:1412", source="MONDO:equivalentTo"}
is_a: MONDO:0002118 {source="DOID:1412", source="MESH:D001437/inferred"} ! urinary system disease
property_value: closeMatch http://identifiers.org/meddra/10004056
property_value: closeMatch http://identifiers.org/snomedct/61373006
property_value: exactMatch DOID:1412
property_value: exactMatch http://identifiers.org/mesh/D001437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004659

[Term]
id: MONDO:0001883
name: blue toe syndrome
def: "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." [MESH:D018438]
xref: DOID:14121 {source="MONDO:equivalentTo"}
xref: MESH:D018438 {source="MONDO:equivalentTo", source="DOID:14121", source="MONDO:ontobio"}
xref: UMLS:C0242645 {source="MONDO:equivalentTo", source="DOID:14121"}
is_a: MONDO:0005568 {source="DOID:14121", source="MESH:D018438"} ! cholesterol embolism
property_value: exactMatch DOID:14121
property_value: exactMatch http://identifiers.org/mesh/D018438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242645

[Term]
id: MONDO:0001884
name: abducens nerve neoplasm
def: "A neoplasm involving a abducens nerve." [MONDO:patterns/neoplasm]
synonym: "abducens nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "abducens nerve neoplasms" EXACT [NCIT:C5826]
synonym: "abducens nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "abducens nerve tumors" EXACT [NCIT:C5826]
synonym: "neoplasm of abducens nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "neoplasm of the abducens nerve" EXACT [NCIT:C5826]
synonym: "neoplasm of the sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve neoplasm" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve neoplasms" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve tumor" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve tumors" EXACT [NCIT:C5826]
synonym: "tumor of abducens nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5826]
synonym: "tumor of sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "tumor of the abducens nerve" EXACT [NCIT:C5826]
synonym: "tumor of the sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "VIth cranial nerve neoplasms" EXACT [NCIT:C5826]
synonym: "VIth cranial nerve tumors" EXACT [DOID:14125, NCIT:C5826]
xref: DOID:14125 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5826 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14125"}
xref: SCTID:126972009 {source="MONDO:equivalentTo", source="DOID:14125", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1263898 {source="MONDO:equivalentTo", source="DOID:14125", source="NCIT:C5826"}
is_a: MONDO:0002633 {source="DOID:14125", source="MONDO:Redundant", source="NCIT:C5826", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0020594 ! abducens nerve disease
property_value: exactMatch DOID:14125
property_value: exactMatch http://identifiers.org/snomedct/126972009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263898
property_value: exactMatch NCIT:C5826

[Term]
id: MONDO:0001885
name: lateral cystocele
xref: COHD:40480943 {source="MONDO:equivalentTo"}
xref: DOID:14130 {source="MONDO:equivalentTo"}
xref: ICD10:N81.12 {source="MONDO:equivalentTo", source="DOID:14130"}
xref: ICD9:618.02 {source="MONDO:equivalentTo", source="DOID:14130", source="i2s"}
xref: SCTID:441891001 {source="MONDO:equivalentTo", source="DOID:14130", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2711750 {source="MONDO:equivalentTo", source="DOID:14130"}
is_a: MONDO:0001592 {source="DOID:14130", source="ICD10:N81.12", source="ICD10:N81.12/inferred"} ! prolapse of female genital organ
property_value: exactMatch DOID:14130
property_value: exactMatch http://identifiers.org/snomedct/441891001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2711750

[Term]
id: MONDO:0001886
name: midline cystocele
xref: COHD:4311159 {source="MONDO:equivalentTo"}
xref: DOID:14131 {source="MONDO:equivalentTo"}
xref: ICD10:N81.11 {source="DOID:14131", source="MONDO:equivalentTo"}
xref: ICD9:618.01 {source="DOID:14131", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:423633003 {source="DOID:14131", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1456248 {source="DOID:14131", source="MONDO:equivalentTo"}
is_a: MONDO:0001592 {source="DOID:14131", source="ICD10:N81.11", source="ICD10:N81.11/inferred"} ! prolapse of female genital organ
property_value: exactMatch DOID:14131
property_value: exactMatch http://identifiers.org/snomedct/423633003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456248

[Term]
id: MONDO:0001887
name: Allen-Masters syndrome
def: "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." [doi:10.1007/s10620-006-9237-7]
synonym: "Broad ligament laceration syndrome" EXACT [DOID:14133, ICD9CM_2006:620.6]
synonym: "Masters-Allen syndrome" EXACT [DOID:14133]
xref: COHD:193523 {source="MONDO:equivalentTo"}
xref: DOID:14133 {source="MONDO:equivalentTo"}
xref: ICD9:620.6 {source="MONDO:equivalentTo", source="DOID:14133", source="i2s"}
xref: SCTID:69186005 {source="MONDO:equivalentTo", source="DOID:14133", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152079 {source="MONDO:equivalentTo", source="DOID:14133"}
is_a: MONDO:0002263 {source="DOID:14133"} ! female reproductive system disease
is_a: MONDO:0045043 {source="MONDO:Redundant"} ! disease of uterine broad ligament
property_value: exactMatch DOID:14133
property_value: exactMatch http://identifiers.org/snomedct/69186005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152079

[Term]
id: MONDO:0001888
name: anus lymphoma
def: "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men." [NCIT:P378]
synonym: "anal lymphoma" EXACT [NCIT:C5601]
synonym: "anus lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of anus" EXACT [DOID:14139, NCIT:C5601]
synonym: "lymphoma of the anus" EXACT [NCIT:C5601]
synonym: "primary anal lymphoma" EXACT [NCIT:C5601]
xref: DOID:14139 {source="MONDO:equivalentTo"}
xref: NCIT:C5601 {source="MONDO:equivalentTo", source="DOID:14139", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332268 {source="MONDO:equivalentTo", source="NCIT:C5601", source="DOID:14139"}
is_a: MONDO:0001879 {source="DOID:14139", source="MONDO:Redundant", source="NCIT:C5601"} ! anus cancer
is_a: MONDO:0002166 ! rectum lymphoma
property_value: exactMatch DOID:14139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332268
property_value: exactMatch NCIT:C5601

[Term]
id: MONDO:0001889
name: ovarian dysfunction
def: "The inability of the ovaries to function." [NCIT:C113351]
synonym: "ovarian failure" EXACT [NCIT:C113351]
synonym: "ovarian hypofunction" EXACT [NCIT:C113351]
synonym: "ovarian insufficiency" EXACT [NCIT:C113351]
xref: DOID:1414 {source="MONDO:equivalentTo"}
xref: EFO:0009003 {source="MONDO:equivalentTo"}
xref: ICD10:E28 {source="MONDO:equivalentTo"}
xref: ICD9:256.3 {source="DOID:1414"}
xref: ICD9:256.39 {source="DOID:1414"}
xref: ICD9:256.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:256.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C113351 {source="MONDO:equivalentTo"}
xref: SCTID:37102008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.23"}
is_a: MONDO:0005558 {source="DOID:1414", source="EFO:0009003", source="NCIT:C113351/inferred", source="linkedlifedata"} ! ovarian disease
property_value: closeMatch http://identifiers.org/snomedct/190543001
property_value: closeMatch http://identifiers.org/snomedct/190548005
property_value: closeMatch http://identifiers.org/snomedct/267399006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029697
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0747102
property_value: exactMatch DOID:1414
property_value: exactMatch http://identifiers.org/snomedct/37102008
property_value: exactMatch NCIT:C113351

[Term]
id: MONDO:0001890
name: pulp erosion
def: "A tooth erosion, non-bacterial that involves the dental pulp." [MONDO:design_pattern]
synonym: "dental pulp tooth erosion, non-bacterial" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tooth erosion, non-bacterial of dental pulp" EXACT [MONDO:design_pattern]
xref: DOID:14140 {source="MONDO:equivalentTo"}
xref: ICD9:521.33 {source="DOID:14140"}
is_a: MONDO:0002325 {source="DOID:14140", source="MONDO:Redundant"} ! tooth erosion, non-bacterial
is_a: MONDO:0003394 ! dental pulp disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456163
property_value: exactMatch DOID:14140

[Term]
id: MONDO:0001891
name: obsolete malignant anus melanoma
is_obsolete: true
replaced_by: MONDO:0006081

[Term]
id: MONDO:0001892
name: spinal cord lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." [NCIT:C5157]
synonym: "lymphoma of spinal cord" EXACT [NCIT:C5157]
synonym: "lymphoma of the spinal cord" EXACT [DOID:14150, NCIT:C5157]
synonym: "primary spinal cord lymphoma" EXACT [NCIT:C5157]
synonym: "spinal cord cancer" RELATED [DOID:14150]
synonym: "spinal cord lymphoma" EXACT [MONDO:patterns/location, NCIT:C5157]
xref: DOID:14150 {source="MONDO:equivalentTo"}
xref: NCIT:C5157 {source="DOID:14150", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336044 {source="DOID:14150", source="MONDO:equivalentTo", source="NCIT:C5157"}
is_a: MONDO:0002571 {source="DOID:14150", source="MONDO:Redundant", source="NCIT:C5157"} ! primary central nervous system lymphoma
is_a: MONDO:0003544 {source="DOID:14150", source="MONDO:Redundant", source="MONDOLEX:0001892", source="NCIT:C5157"} ! spinal cord cancer
property_value: exactMatch DOID:14150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336044
property_value: exactMatch NCIT:C5157

[Term]
id: MONDO:0001893
name: spinal cord melanoma
def: "A melanoma (disease) that involves the spinal cord." [MONDO:patterns/location]
synonym: "melanoma (disease) of spinal cord" EXACT []
synonym: "melanoma of spinal cord" EXACT [NCIT:C5158]
synonym: "melanoma of the spinal cord" EXACT [DOID:14151, NCIT:C5158]
synonym: "spinal cord melanoma" EXACT [NCIT:C5158]
synonym: "spinal cord melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:14151 {source="MONDO:equivalentTo"}
xref: NCIT:C5158 {source="DOID:14151", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336045 {source="DOID:14151", source="MONDO:equivalentTo", source="NCIT:C5158"}
is_a: MONDO:0003544 {source="DOID:14151", source="MONDO:Redundant", source="NCIT:C5158"} ! spinal cord cancer
is_a: MONDO:0016747 ! primary melanoma of the central nervous system
property_value: exactMatch DOID:14151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336045
property_value: exactMatch NCIT:C5158

[Term]
id: MONDO:0001894
name: spinal cord sarcoma
def: "A sarcoma that arises from the spinal cord." [NCIT:C5152]
synonym: "sarcoma of spinal cord" EXACT [MONDO:patterns/sarcoma, NCIT:C5152]
synonym: "sarcoma of the spinal cord" EXACT [DOID:14152, NCIT:C5152]
synonym: "spinal cord sarcoma" EXACT [MONDO:patterns/location, NCIT:C5152]
xref: DOID:14152 {source="MONDO:equivalentTo"}
xref: NCIT:C5152 {source="MONDO:equivalentTo", source="DOID:14152", source="exact-label-match"}
xref: UMLS:C1336049 {source="NCIT:C5152", source="MONDO:equivalentTo", source="DOID:14152"}
is_a: MONDO:0002217 {source="DOID:14152", source="MONDO:Redundant", source="NCIT:C5152"} ! central nervous system sarcoma
is_a: MONDO:0003544 {source="DOID:14152", source="MONDO:Redundant", source="NCIT:C5152"} ! spinal cord cancer
property_value: exactMatch DOID:14152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336049
property_value: exactMatch NCIT:C5152

[Term]
id: MONDO:0001895
name: acute retrobulbar neuritis
def: "Acute form of retrobulbar neuritis." [MONDO:patterns/acute]
synonym: "retrobulbar neuritis" EXACT EXCLUDE [DOID:14155]
synonym: "retrobulbar neuritis (acute)" EXACT [DOID:14155, ICD9CM_2006:377.32]
synonym: "retrobulbar neuritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14155 {source="MONDO:equivalentTo"}
xref: ICD9:377.32 {source="MONDO:equivalentTo", source="DOID:14155", source="i2s"}
xref: SCTID:51604006 {source="MONDO:equivalentTo", source="DOID:14155", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155301 {source="MONDO:equivalentTo", source="DOID:14155"}
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0024335 ! retrobulbar neuritis
property_value: exactMatch DOID:14155
property_value: exactMatch http://identifiers.org/snomedct/51604006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155301

[Term]
id: MONDO:0001896
name: obstructive hydrocephalus
def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." [NCIT:P378]
synonym: "non-communicating hydrocephalus" EXACT [NCIT:C116347]
xref: COHD:440385 {source="MONDO:equivalentTo"}
xref: DOID:14159 {source="MONDO:equivalentTo"}
xref: ICD10:G91.1 {source="MONDO:equivalentTo", source="DOID:14159"}
xref: ICD9:331.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:14159"}
xref: NCIT:C116347 {source="MONDO:equivalentTo", source="DOID:14159", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:230746009 {source="MONDO:equivalentTo", source="DOID:14159", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0549423 {source="MONDO:equivalentTo", source="NCIT:C116347", source="DOID:14159"}
is_a: MONDO:0001150 {source="DOID:14159", source="ICD10:G91.1", source="NCIT:C116347"} ! hydrocephalus
property_value: closeMatch http://identifiers.org/snomedct/82346000
property_value: exactMatch DOID:14159
property_value: exactMatch http://identifiers.org/snomedct/230746009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549423
property_value: exactMatch NCIT:C116347

[Term]
id: MONDO:0001897
name: bilateral hyperactive labyrinth
synonym: "hyperactive bilateral labyrinthine dysfunction" EXACT [DOID:14165]
synonym: "hyperactive labyrinth, bilateral" EXACT [DOID:14165, ICD9CM_2006:386.52]
xref: DOID:14165 {source="MONDO:equivalentTo"}
xref: ICD9:386.52 {source="DOID:14165"}
xref: SCTID:194373002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:14165"}
xref: UMLS:C0155516 {source="MONDO:equivalentTo", source="DOID:14165"}
is_a: MONDO:0003571 {source="DOID:14165", source="linkedlifedata", source="linkedlifedata/inferred"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/5311007
property_value: exactMatch DOID:14165
property_value: exactMatch http://identifiers.org/snomedct/194373002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155516

[Term]
id: MONDO:0001898
name: optic choroid disease
def: "A disease involving the optic choroid." [MONDO:DesignPattern]
synonym: "choroid disease" RELATED [DOID:1417]
synonym: "choroid disorder" EXACT [NCIT:C34468]
synonym: "disease of optic choroid" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic choroid" EXACT []
synonym: "disorder of optic choroid" EXACT [MONDO:patterns/location_top]
synonym: "disorder of optic choroid" RELATED [MONDO:patterns/location_top]
synonym: "optic choroid disease" EXACT [MONDO:patterns/location]
synonym: "optic choroid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1417 {source="MONDO:equivalentTo"}
xref: ICD10:H31.9 {source="DOID:1417"}
xref: ICD9:363.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:363.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1417"}
xref: MESH:D015862 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1417"}
xref: NCIT:C34468 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1417"}
xref: SCTID:128468007 {source="MONDO:equivalentTo"}
xref: UMLS:C0008521 {source="MONDO:equivalentTo", source="NCIT:C34468", source="DOID:1417"}
is_a: MONDO:0002661 {source="DOID:1417", source="MESH:D015862", source="MONDO:Redundant", source="NCIT:C34468", source="linkedlifedata"} ! uveal disease
is_a: MONDO:0005552 ! ocular vascular disease
property_value: closeMatch http://identifiers.org/snomedct/193431000
property_value: closeMatch http://identifiers.org/snomedct/193480005
property_value: exactMatch DOID:1417
property_value: exactMatch http://identifiers.org/mesh/D015862
property_value: exactMatch http://identifiers.org/snomedct/128468007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008521
property_value: exactMatch NCIT:C34468

[Term]
id: MONDO:0001899
name: rheumatic congestive heart failure
synonym: "congestive rheumatic heart failure" EXACT [DOID:14172]
synonym: "rheumatic heart failure" EXACT [DOID:14172, MTHICD9_2006:398.91]
synonym: "rheumatic heart failure (congestive)" EXACT [DOID:14172, ICD9CM_2006:398.91]
xref: COHD:315295 {source="MONDO:equivalentTo"}
xref: DOID:14172 {source="MONDO:equivalentTo"}
xref: ICD10:I09.81 {source="DOID:14172", source="MONDO:equivalentTo"}
xref: ICD9:398.91 {source="DOID:14172", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:82523003 {source="DOID:14172", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155582 {source="MEDGEN:kboom-pr97-c98", source="DOID:14172", source="MONDO:equivalentTo"}
is_a: MONDO:0005009 {source="DOID:14172", source="MONDOLEX:0001899", source="linkedlifedata"} ! congestive heart failure
is_a: MONDO:0006955 {source="ICD10:I09.81/inferred", source="linkedlifedata"} ! rheumatic heart disease
property_value: exactMatch DOID:14172
property_value: exactMatch http://identifiers.org/snomedct/82523003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155582

[Term]
id: MONDO:0001900
name: obsolete central neurocytoma
is_obsolete: true
replaced_by: MONDO:0019134

[Term]
id: MONDO:0001901
name: selective IgG subclass deficiency
def: "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." [NCIT:C27024]
synonym: "Immunoglobin G subclass deficiency" EXACT [DOID:14176]
synonym: "selective deficiency of IgG" EXACT [DOID:14176, MTHICD9_2006:279.03]
synonym: "selective IgG deficiency disease" RELATED [DOID:14176]
synonym: "selective IgG immunodeficiency" EXACT [DOID:14176, NCIT:C27142]
synonym: "selective immunoglobulin G deficiency" EXACT [DOID:14176]
synonym: "selective Immunoglobulin G subclass deficiency" EXACT [DOID:14176, NCIT:C27024]
xref: DOID:14176 {source="MONDO:equivalentTo"}
xref: ICD10:D80.3 {source="DOID:14176"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017099 {source="MONDO:equivalentTo", source="DOID:14176"}
xref: NCIT:C27024 {source="MONDO:equivalentTo", source="DOID:14176", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: SCTID:190981001 {source="MONDO:equivalentTo", source="DOID:14176", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015697 {source="linkedlifedata"} ! immunoglobulin heavy chain deficiency
is_a: MONDO:0045045 {source="NCIT:C27024"} ! selective IgG immunodeficiency
relationship: excluded_subClassOf MONDO:0001342 {source="DOID:14176"} ! dysgammaglobulinemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/123785006
property_value: exactMatch DOID:14176
property_value: exactMatch http://identifiers.org/mesh/D017099
property_value: exactMatch http://identifiers.org/snomedct/190981001
property_value: exactMatch NCIT:C27024

[Term]
id: MONDO:0001902
name: congenital agammaglobulinemia
def: "An instance of agammaglobulinemia that is present from birth." [MONDO:patterns/congenital]
synonym: "congenital agammaglobulinemia" EXACT [MONDO:patterns/congenital]
synonym: "congenital hypogammaglobulinaemia" EXACT [DOID:14177]
synonym: "congenital hypogammaglobulinemia (finding)" EXACT [DOID:14177]
xref: DOID:14177 {source="MONDO:equivalentTo"}
xref: ICD9:279.04 {source="DOID:14177"}
xref: UMLS:C1457897 {source="MONDO:equivalentTo", source="DOID:14177"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0015977 ! agammaglobulinemia
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0002211 {source="DOID:14177"} ! B cell deficiency
property_value: closeMatch http://identifiers.org/snomedct/190983003
property_value: closeMatch http://identifiers.org/snomedct/267460002
property_value: exactMatch DOID:14177
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1457897

[Term]
id: MONDO:0001903
name: calcific tendinitis
xref: DOID:14181 {source="MONDO:equivalentTo"}
xref: ICD10:M65.2 {source="MONDO:equivalentTo"}
xref: ICD10:M75.3 {source="DOID:14181"}
xref: ICD9:726.11 {source="DOID:14181"}
xref: SCTID:95414005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0521515 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004857 {source="DOID:14181", source="linkedlifedata"} ! tendinitis
property_value: closeMatch http://identifiers.org/snomedct/239957000
property_value: closeMatch http://identifiers.org/snomedct/27741009
property_value: closeMatch http://identifiers.org/snomedct/699942000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158303
property_value: exactMatch DOID:14181
property_value: exactMatch http://identifiers.org/snomedct/95414005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521515

[Term]
id: MONDO:0001904
name: polyneuropathy due to drug
xref: COHD:381551 {source="MONDO:equivalentTo"}
xref: DOID:14184 {source="MONDO:equivalentTo"}
xref: ICD10:G62.0 {source="DOID:14184"}
xref: ICD9:357.6 {source="DOID:14184", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:7339009 {source="DOID:14184", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154762 {source="DOID:14184", source="MONDO:equivalentTo"}
is_a: MONDO:0001824 {source="linkedlifedata", source="linkedlifedata/inferred"} ! polyneuropathy
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14184"} ! inflammatory and toxic neuropathy
property_value: exactMatch DOID:14184
property_value: exactMatch http://identifiers.org/snomedct/7339009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154762

[Term]
id: MONDO:0001905
name: bicipital tenosynovitis
xref: COHD:78237 {source="MONDO:equivalentTo"}
xref: DOID:14192 {source="MONDO:equivalentTo"}
xref: ICD9:726.12 {source="DOID:14192", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:41137001 {source="DOID:14192", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0158304 {source="DOID:14192", source="MONDO:equivalentTo"}
is_a: MONDO:0004855 {source="DOID:14192", source="linkedlifedata"} ! tenosynovitis
property_value: closeMatch http://identifiers.org/snomedct/202840002
property_value: exactMatch DOID:14192
property_value: exactMatch http://identifiers.org/snomedct/41137001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158304

[Term]
id: MONDO:0001906
name: posterior dislocation of lens
comment: May be obsoleted as it represents a finding; TODO add HPO class
xref: COHD:374363 {source="MONDO:equivalentTo"}
xref: DOID:14199 {source="MONDO:equivalentTo"}
xref: ICD10:H27.13 {source="DOID:14199"}
xref: ICD9:379.34 {source="MONDO:equivalentTo", source="DOID:14199", source="i2s"}
xref: SCTID:14169000 {source="MONDO:equivalentTo", source="DOID:14199", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155373 {source="MONDO:equivalentTo", source="DOID:14199"}
is_a: MONDO:0001176 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! lens disease
is_a: MONDO:0001524 {source="DOID:14199"} ! globe disease
property_value: closeMatch http://identifiers.org/snomedct/194161005
property_value: exactMatch DOID:14199
property_value: exactMatch http://identifiers.org/snomedct/14169000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155373

[Term]
id: MONDO:0001907
name: adult dermatomyositis
def: "Dermatomyositis in an adult." [NCIT:C27313]
synonym: "adult onset dermatomyositis" EXACT [DOID:14202]
synonym: "dermatomyositis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:14202 {source="MONDO:equivalentTo"}
xref: NCIT:C27313 {source="MONDO:kboom-pr-0.91/0.79/0.43", source="MONDO:equivalentTo"}
xref: SCTID:402425006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016367 {source="DOID:14202", source="MONDO:Redundant", source="MONDOLEX:0001907", source="NCIT:C27313", source="linkedlifedata"} ! dermatomyositis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221056
property_value: exactMatch DOID:14202
property_value: exactMatch http://identifiers.org/snomedct/402425006
property_value: exactMatch NCIT:C27313

[Term]
id: MONDO:0001908
name: obsolete hypophosphatasia
is_obsolete: true
replaced_by: MONDO:0018570

[Term]
id: MONDO:0001909
name: renal tubular acidosis
def: "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." [MESH:D000141]
subset: gard_rare {source="GARD:0007552"}
xref: DOID:14219 {source="MONDO:equivalentTo"}
xref: GARD:0007552 {source="MONDO:equivalentTo"}
xref: ICD10:N25.89 {source="DOID:14219"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000141 {source="DOID:14219", source="MONDO:equivalentTo"}
xref: SCTID:1776003 {source="DOID:14219", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0001126 {source="DOID:14219", source="MONDO:equivalentTo"}
is_a: MONDO:0006022 ! acidosis disorder
is_a: MONDO:0006510 {source="DOID:14219", source="MESH:D000141"} ! renal tubular transport disease
is_a: MONDO:0021568 ! renal tubule disease
property_value: exactMatch DOID:14219
property_value: exactMatch http://identifiers.org/mesh/D000141
property_value: exactMatch http://identifiers.org/snomedct/1776003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001126
property_value: exactMatch NCIT:C28129
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis xsd:anyURI {source="GARD:0007552"}

[Term]
id: MONDO:0001910
name: ochronosis disorder
def: "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." [NCIT:P378]
synonym: "ochronosis" EXACT [MONDO:ambiguous]
xref: DOID:14223 {source="MONDO:equivalentTo"}
xref: GARD:0007231 {source="MONDO:equivalentTo"}
xref: HP:0030764 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E70.29 {source="DOID:14223"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009794 {source="MONDO:equivalentTo", source="DOID:14223", source="MONDO:ontobio"}
xref: NCIT:C84938 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14223"}
xref: SCTID:410042009 {source="MONDO:equivalentTo", source="DOID:14223", source="MONDO:kboom-pr-0.79/0.41/0.83"}
xref: UMLS:C0028817 {source="MONDO:equivalentTo", source="NCIT:C84938", source="DOID:14223"}
is_a: MONDO:0005569 ! cartilage disease
is_a: MONDO:0045022 ! disorder of organic acid metabolism
property_value: closeMatch http://identifiers.org/snomedct/21924005
property_value: exactMatch DOID:14223
property_value: exactMatch http://identifiers.org/mesh/D009794
property_value: exactMatch http://identifiers.org/snomedct/410042009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028817
property_value: exactMatch NCIT:C84938

[Term]
id: MONDO:0001911
name: tracheal calcification
def: "Abnormal deposits of calcium in the tracheal tissue." [NCIT:P378]
comment: Editor note: consider ceding to HPO
synonym: "calcification of trachea" EXACT [DOID:14224]
xref: DOID:14224 {source="MONDO:equivalentTo"}
xref: HP:0002787 {source="MONDO:otherHierarchy"}
xref: ICD9:519.19 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:81089005 {source="MONDO:equivalentTo", source="DOID:14224", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0264324 {source="MONDO:equivalentTo", source="DOID:14224"}
is_a: MONDO:0002567 {source="DOID:14224", source="linkedlifedata"} ! tracheal disease
property_value: exactMatch DOID:14224
property_value: exactMatch http://identifiers.org/snomedct/81089005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264324
property_value: exactMatch NCIT:C35314

[Term]
id: MONDO:0001912
name: acute frontal sinusitis
def: "Acute form of frontal sinusitis." [MONDO:patterns/acute]
synonym: "frontal sinusitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:139850 {source="MONDO:equivalentTo"}
xref: DOID:14225 {source="MONDO:equivalentTo"}
xref: ICD10:J01.1 {source="MONDO:equivalentTo", source="DOID:14225"}
xref: ICD10:J01.10 {source="DOID:14225"}
xref: ICD9:461.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14225"}
xref: SCTID:91038008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14225"}
xref: UMLS:C0155805 {source="MONDO:equivalentTo", source="DOID:14225"}
is_a: MONDO:0001121 {source="DOID:14225", source="MONDO:Redundant", source="MONDOLEX:0001912", source="linkedlifedata"} ! frontal sinusitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155500003
property_value: exactMatch DOID:14225
property_value: exactMatch http://identifiers.org/snomedct/91038008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155805

[Term]
id: MONDO:0001913
name: oligospermia
def: "Decreased number of spermatozoa in the semen." [NCIT:P378]
xref: DOID:14228 {source="MONDO:equivalentTo"}
xref: HP:0000798 {source="MONDO:otherHierarchy"}
xref: ICD10:N46.1 {source="DOID:14228"}
xref: ICD10:N46.11 {source="DOID:14228"}
xref: ICD9:606.1 {source="DOID:14228"}
xref: MESH:D009845 {source="DOID:14228", source="MONDO:equivalentTo"}
xref: UMLS:C0028960 {source="DOID:14228", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="DOID:14228", source="MESH:D009845"} ! male infertility
property_value: exactMatch DOID:14228
property_value: exactMatch http://identifiers.org/mesh/D009845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028960
property_value: exactMatch NCIT:C34860

[Term]
id: MONDO:0001914
name: scleromalacia perforans
def: "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." [http://eyewiki.aao.org/Scleritis]
xref: DOID:14230 {source="MONDO:equivalentTo"}
xref: ICD10:H15.05 {source="DOID:14230"}
xref: ICD9:379.04 {source="DOID:14230", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:26664005 {source="DOID:14230", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155354 {source="DOID:14230", source="MONDO:equivalentTo"}
is_a: MONDO:0040699 {source="http://eyewiki.aao.org/Scleritis"} ! necrotizing scleritis
property_value: exactMatch DOID:14230
property_value: exactMatch http://identifiers.org/snomedct/26664005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155354

[Term]
id: MONDO:0001915
name: orbital cyst
comment: Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666]
synonym: "orbit cyst" EXACT []
xref: COHD:440418 {source="MONDO:equivalentTo"}
xref: DOID:14233 {source="MONDO:equivalentTo"}
xref: HP:0001144 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H05.81 {source="DOID:14233"}
xref: ICD9:376.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:14233"}
xref: SCTID:31021007 {source="MONDO:equivalentTo", source="DOID:14233", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155285 {source="MONDO:equivalentTo", source="DOID:14233"}
is_a: MONDO:0004751 {source="DOID:14233"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/194033002
property_value: exactMatch DOID:14233
property_value: exactMatch http://identifiers.org/snomedct/31021007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155285

[Term]
id: MONDO:0001916
name: gastrointestinal tularemia
def: "A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting." [DOID:14239, http://usgips.com/web/Download/LAMPS%20USCAP2003.pdf]
synonym: "enteric tularemia" EXACT [DOID:14239, ICD9CM_2006:021.1]
synonym: "intestinal tularaemia" EXACT [DOID:14239]
xref: DOID:14239 {source="MONDO:equivalentTo"}
xref: ICD10:A21.3 {source="MONDO:equivalentTo"}
xref: ICD9:021.1 {source="DOID:14239"}
xref: ICD9:021.8 {source="DOID:14239"}
is_a: MONDO:0018077 {source="DOID:14239", source="ICD10:A21.3"} ! tularemia
property_value: closeMatch http://identifiers.org/snomedct/111834003
property_value: closeMatch http://identifiers.org/snomedct/186292001
property_value: closeMatch http://identifiers.org/snomedct/186296003
property_value: closeMatch http://identifiers.org/snomedct/186298002
property_value: closeMatch http://identifiers.org/snomedct/186299005
property_value: closeMatch http://identifiers.org/snomedct/398599000
property_value: closeMatch http://identifiers.org/snomedct/62769007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029835
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152942
property_value: exactMatch DOID:14239

[Term]
id: MONDO:0001917
name: chronic perichondritis of pinna
def: "Chronic form of perichondritis of auricle." [MONDO:patterns/chronic]
synonym: "chronic perichondritis of auricle" EXACT [MONDO:design_pattern]
synonym: "chronic pinna perichondritis" EXACT [DOID:14243]
synonym: "perichondritis of auricle, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:14243 {source="MONDO:equivalentTo"}
xref: ICD9:380.02 {source="MONDO:equivalentTo", source="DOID:14243", source="i2s"}
xref: SCTID:45431004 {source="MONDO:equivalentTo", source="DOID:14243", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: UMLS:C0155391 {source="MONDO:equivalentTo", source="DOID:14243"}
is_a: MONDO:0002246 {source="DOID:14243", source="MONDO:Redundant", source="linkedlifedata"} ! perichondritis of auricle
property_value: closeMatch http://identifiers.org/snomedct/194195009
property_value: exactMatch DOID:14243
property_value: exactMatch http://identifiers.org/snomedct/45431004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155391

[Term]
id: MONDO:0001918
name: epiphora due to excess lacrimation
xref: COHD:441855 {source="MONDO:equivalentTo"}
xref: DOID:14244 {source="MONDO:equivalentTo"}
xref: ICD10:H04.21 {source="DOID:14244"}
xref: ICD9:375.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:14244"}
xref: SCTID:31788005 {source="MONDO:equivalentTo", source="DOID:14244", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155233 {source="MONDO:equivalentTo", source="DOID:14244"}
is_a: MONDO:0001793 {source="DOID:14244", source="MONDOLEX:0001918", source="linkedlifedata"} ! excessive tearing
property_value: closeMatch http://identifiers.org/snomedct/193984005
property_value: exactMatch DOID:14244
property_value: exactMatch http://identifiers.org/snomedct/31788005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155233

[Term]
id: MONDO:0001919
name: cystoid macular retinal degeneration
synonym: "cystoid macular degeneration of retina" EXACT [DOID:14245, ICD9CM_2006:362.53]
xref: COHD:376115 {source="MONDO:equivalentTo"}
xref: DOID:14245 {source="MONDO:equivalentTo"}
xref: ICD10:H35.35 {source="DOID:14245"}
xref: ICD9:362.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:14245"}
xref: SCTID:14046000 {source="MONDO:equivalentTo", source="DOID:14245", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154850 {source="MONDO:equivalentTo", source="DOID:14245"}
is_a: MONDO:0002175 {source="DOID:14245"} ! degeneration of macula and posterior pole
property_value: exactMatch DOID:14245
property_value: exactMatch http://identifiers.org/snomedct/14046000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154850

[Term]
id: MONDO:0001920
name: chronic purulent otitis media
def: "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." [NCIT:C128386]
synonym: "chronic suppurative otitis Media" EXACT [NCIT:C128386]
synonym: "chronic suppurative otitis media" EXACT [DOID:14247]
synonym: "CSOM" EXACT [NCIT:C128386]
synonym: "suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:377886 {source="MONDO:equivalentTo"}
xref: DOID:14247 {source="MONDO:equivalentTo"}
xref: ICD10:H66.3 {source="DOID:14247"}
xref: ICD9:382.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:14247"}
xref: NCIT:C128386 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:38394007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/1.99", source="DOID:14247"}
xref: UMLS:C0271454 {source="NCIT:C128386", source="MONDO:equivalentTo", source="DOID:14247"}
is_a: MONDO:0005975 {source="DOID:14247", source="MONDO:Redundant", source="MONDOLEX:0001920", source="linkedlifedata"} ! suppurative otitis media
is_a: MONDO:0021204 {source="MONDO:Redundant", source="linkedlifedata"} ! chronic otitis media
property_value: closeMatch http://identifiers.org/snomedct/155228005
property_value: closeMatch http://identifiers.org/snomedct/194284006
property_value: closeMatch http://identifiers.org/snomedct/232253005
property_value: exactMatch DOID:14247
property_value: exactMatch http://identifiers.org/snomedct/38394007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271454
property_value: exactMatch NCIT:C128386

[Term]
id: MONDO:0001921
name: chronic atticoantral disease
def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." [DOID:14248, http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false]
synonym: "chronic atticoantral suppurative otitis media" EXACT [DOID:14248, ICD9CM_2006:382.2]
xref: COHD:260730 {source="MONDO:equivalentTo"}
xref: DOID:14248 {source="MONDO:equivalentTo"}
xref: ICD10:H66.2 {source="DOID:14248"}
xref: ICD10:H66.20 {source="DOID:14248"}
xref: ICD9:382.2 {source="DOID:14248"}
xref: SCTID:267759006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0155441 {source="MONDO:equivalentTo", source="DOID:14248"}
xref: UMLS:C0565831 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001920 {source="DOID:14248"} ! chronic purulent otitis media
property_value: closeMatch http://identifiers.org/snomedct/41954005
property_value: exactMatch DOID:14248
property_value: exactMatch http://identifiers.org/snomedct/267759006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0565831

[Term]
id: MONDO:0001922
name: pyoureter
def: "An abscess that is located in the ureter." [NCIT:P378]
synonym: "ureter abscess" EXACT [DOID:1425, NCIT:C35666]
xref: DOID:1425 {source="MONDO:equivalentTo"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35666 {source="MONDO:equivalentTo", source="DOID:1425", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:85884009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1425"}
xref: UMLS:C0034223 {source="MONDO:equivalentTo", source="DOID:1425", source="NCIT:C35666"}
is_a: MONDO:0001926 {source="DOID:1425", source="linkedlifedata"} ! ureteral disease
is_a: MONDO:0005227 {source="NCIT:C35666"} ! abscess
is_a: MONDO:0005247 ! urinary tract infection (disease)
property_value: closeMatch http://identifiers.org/snomedct/266627003
property_value: exactMatch DOID:1425
property_value: exactMatch http://identifiers.org/snomedct/85884009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034223
property_value: exactMatch NCIT:C35666

[Term]
id: MONDO:0001923
name: vitreoretinal dystrophy
synonym: "vitreoretinal dystrophies" EXACT [DOID:14251, ICD9CM_2006:362.73]
xref: COHD:373772 {source="MONDO:equivalentTo"}
xref: DOID:14251 {source="MONDO:equivalentTo"}
xref: ICD10:H35.51 {source="MONDO:equivalentTo", source="DOID:14251"}
xref: ICD9:362.73 {source="MONDO:equivalentTo", source="DOID:14251", source="i2s"}
xref: SCTID:79556007 {source="MONDO:equivalentTo", source="DOID:14251", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154863 {source="MONDO:equivalentTo", source="DOID:14251"}
is_a: MONDO:0019118 {source="DOID:14251", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch DOID:14251
property_value: exactMatch http://identifiers.org/snomedct/79556007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154863

[Term]
id: MONDO:0001924
name: dystrophies primarily involving the retinal pigment epithelium
xref: DOID:14252 {source="MONDO:equivalentTo"}
xref: ICD10:H35.54 {source="DOID:14252", source="MONDO:equivalentTo"}
xref: ICD9:362.76 {source="MONDO:relatedTo", source="DOID:14252"}
is_a: MONDO:0019118 {source="DOID:14252"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154865
property_value: exactMatch DOID:14252

[Term]
id: MONDO:0001925
name: retinal dystrophy in systemic or cerebroretinal lipidoses
xref: DOID:14253 {source="MONDO:equivalentTo"}
xref: ICD9:362.71 {source="DOID:14253"}
is_a: MONDO:0019118 {source="DOID:14253"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154861
property_value: exactMatch DOID:14253

[Term]
id: MONDO:0001926
name: ureteral disease
def: "A non-neoplastic or neoplastic disorder affecting the ureter." [NCIT:P378]
synonym: "disease of ureter" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ureter" EXACT []
synonym: "disorder of ureter" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ureter" RELATED [MONDO:patterns/location_top]
synonym: "ureter disease" EXACT [MONDO:patterns/location]
synonym: "ureter disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ureter disorder" EXACT [NCIT:C27148]
synonym: "ureteric disease" EXACT [NCIT:C27148]
synonym: "ureteric disorder" EXACT [NCIT:C27148]
xref: DOID:1426 {source="MONDO:equivalentTo"}
xref: MESH:D014515 {source="MONDO:equivalentTo", source="DOID:1426", source="MONDO:ontobio"}
xref: NCIT:C27148 {source="MONDO:equivalentTo", source="DOID:1426"}
xref: SCTID:128073008 {source="MONDO:equivalentTo"}
xref: UMLS:C0041954 {source="MONDO:equivalentTo", source="DOID:1426"}
xref: UMLS:C0403608 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002118 {source="DOID:1426", source="MESH:D014515", source="MONDO:Redundant", source="NCIT:C27148", source="linkedlifedata/inferred"} ! urinary system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch DOID:1426
property_value: exactMatch http://identifiers.org/mesh/D014515
property_value: exactMatch http://identifiers.org/snomedct/128073008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403608
property_value: exactMatch NCIT:C27148

[Term]
id: MONDO:0001927
name: pulmonary valve insufficiency
def: "Dysfunction of the pulmonary valve characterized by incomplete valve closure." [NCIT:P378]
synonym: "pulmonary incompetence" EXACT [DOID:14265]
synonym: "pulmonary incompetence, non-rheumatic" EXACT [DOID:14265]
synonym: "pulmonary insufficiency following trauma and surgery" EXACT [DOID:14265]
synonym: "pulmonary regurg." EXACT [DOID:14265]
synonym: "pulmonary regurgitation" EXACT [DOID:14265]
synonym: "pulmonary valve regurgitation" EXACT [NCIT:C50848]
synonym: "pulmonary valvular regurgitation" EXACT [NCIT:C50848]
synonym: "pulmonic insufficiency" EXACT [DOID:14265]
synonym: "pulmonic insufficiency NOS" RELATED EXCLUDE [DOID:14265, MTHICD9_2006:424.3]
synonym: "pulmonic valve regurgitation" EXACT [DOID:14265]
synonym: "regurgitation, pulmonary" EXACT [NCIT:C50848]
xref: DOID:14265 {source="MONDO:equivalentTo"}
xref: MESH:D011665 {source="MONDO:equivalentTo", source="DOID:14265", source="MONDO:ontobio"}
xref: NCIT:C50848 {source="MONDO:equivalentTo", source="DOID:14265", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: SCTID:194995005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29"}
is_a: MONDO:0003628 {source="DOID:14265", source="NCIT:C50848", source="linkedlifedata", source="linkedlifedata/inferred"} ! pulmonary valve disease
property_value: closeMatch http://identifiers.org/snomedct/91434003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034088
property_value: closeMatch NCIT:C51447
property_value: closeMatch NCIT:C62436
property_value: exactMatch DOID:14265
property_value: exactMatch http://identifiers.org/mesh/D011665
property_value: exactMatch http://identifiers.org/snomedct/194995005
property_value: exactMatch NCIT:C50848

[Term]
id: MONDO:0001928
name: suppurative cholangitis
def: "Cholangitis that is characterized by pyogenic organisms." [NCIT:P378]
synonym: "suppurative cholangitis" EXACT [DOID:14269, NCIT:C35336]
xref: DOID:14269 {source="MONDO:equivalentTo"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="DOID:14269"}
xref: NCIT:C35336 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14269"}
xref: SCTID:69850007 {source="MONDO:equivalentTo", source="DOID:14269", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267924 {source="MONDO:equivalentTo", source="NCIT:C35336", source="DOID:14269"}
is_a: MONDO:0004789 {source="DOID:14269", source="NCIT:C35336", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis
property_value: closeMatch http://identifiers.org/snomedct/197437002
property_value: exactMatch DOID:14269
property_value: exactMatch http://identifiers.org/snomedct/69850007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267924
property_value: exactMatch NCIT:C35336

[Term]
id: MONDO:0001929
name: ascending cholangitis
def: "Acute infection of the bile ducts caused by bacteria ascending from the small intestine." [NCIT:P378]
synonym: "ascending cholangitis" EXACT [DOID:14270, NCIT:C35372]
xref: DOID:14270 {source="MONDO:equivalentTo"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="DOID:14270"}
xref: NCIT:C35372 {source="DOID:14270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:26918003 {source="DOID:14270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0311273 {source="DOID:14270", source="NCIT:C35372", source="MONDO:equivalentTo"}
is_a: MONDO:0004789 {source="DOID:14270", source="NCIT:C35372", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis
property_value: exactMatch DOID:14270
property_value: exactMatch http://identifiers.org/snomedct/26918003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311273
property_value: exactMatch NCIT:C35372

[Term]
id: MONDO:0001930
name: acute cholangitis
def: "Cholangitis that is both sudden in onset and of a relatively short duration." [NCIT:P378]
synonym: "acute cholangitis" EXACT [DOID:14271, NCIT:C35334]
synonym: "cholangitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14271 {source="MONDO:equivalentTo"}
xref: NCIT:C35334 {source="DOID:14271", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:6215006 {source="DOID:14271", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267917 {source="DOID:14271", source="MONDO:equivalentTo", source="NCIT:C35334"}
is_a: MONDO:0004789 {source="DOID:14271", source="MONDO:Redundant", source="NCIT:C35334", source="linkedlifedata"} ! cholangitis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:14271
property_value: exactMatch http://identifiers.org/snomedct/6215006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267917
property_value: exactMatch NCIT:C35334

[Term]
id: MONDO:0001931
name: pericholangitis
def: "Inflammation of the tissue surrounding the biliary ducts." [NCIT:P378]
xref: DOID:14272 {source="MONDO:equivalentTo"}
xref: NCIT:C34916 {source="DOID:14272", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:111373008 {source="DOID:14272", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0031052 {source="NCIT:C34916", source="DOID:14272", source="MONDO:equivalentTo"}
is_a: MONDO:0004789 {source="DOID:14272", source="linkedlifedata"} ! cholangitis
property_value: exactMatch DOID:14272
property_value: exactMatch http://identifiers.org/snomedct/111373008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031052
property_value: exactMatch NCIT:C34916

[Term]
id: MONDO:0001932
name: atrophic vulva
synonym: "atrophic vulva" EXACT []
synonym: "atrophic vulvitis" RELATED []
synonym: "atrophy of vulva" EXACT [DOID:14275, ICD9CM_2006:624.1]
xref: COHD:438208 {source="MONDO:equivalentTo"}
xref: DOID:14275 {source="MONDO:equivalentTo"}
xref: ICD10:N90.5 {source="MONDO:equivalentTo", source="DOID:14275"}
xref: ICD9:624.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14275"}
xref: SCTID:248861000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="DOID:14275"}
xref: UMLS:C0156393 {source="MONDO:equivalentTo", source="DOID:14275"}
is_a: MONDO:0002187 {source="DOID:14275", source="linkedlifedata"} ! vulvar disease
is_a: MONDO:0024236 ! degenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/198382004
property_value: closeMatch http://identifiers.org/snomedct/82614005
property_value: exactMatch DOID:14275
property_value: exactMatch http://identifiers.org/snomedct/248861000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156393

[Term]
id: MONDO:0001933
name: endocrine pancreas disease
def: "A disease involving the endocrine pancreas." [MONDO:DesignPattern]
synonym: "disease of endocrine pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocrine pancreas" EXACT []
synonym: "disorder of endocrine pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disorder of endocrine pancreas" RELATED [MONDO:patterns/location_top]
synonym: "disorder of islets of langerhans" RELATED []
synonym: "disorder of pancreatic islets" RELATED []
synonym: "endocrine pancreas disease" EXACT [MONDO:patterns/location, NCIT:C27067]
synonym: "endocrine pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine pancreas disorder" EXACT [NCIT:C27067]
xref: DOID:1428 {source="MONDO:equivalentTo"}
xref: ICD10:E16 {source="DOID:1428"}
xref: ICD9:251 {source="DOID:1428"}
xref: NCIT:C27067 {source="MONDO:equivalentTo"}
xref: SCTID:17346000 {source="MONDO:equivalentTo"}
xref: UMLS:C0271633 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27067", source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="DOID:1428", source="MONDO:Redundant", source="NCIT:C27067", source="linkedlifedata"} ! pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/190427005
property_value: closeMatch http://identifiers.org/snomedct/190450004
property_value: closeMatch http://identifiers.org/snomedct/237574003
property_value: closeMatch http://identifiers.org/snomedct/267385007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154189
property_value: exactMatch DOID:1428
property_value: exactMatch http://identifiers.org/snomedct/17346000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271633
property_value: exactMatch NCIT:C27067

[Term]
id: MONDO:0001934
name: obsolete primary hypertrophic osteoarthropathy
is_obsolete: true
replaced_by: MONDO:0016620

[Term]
id: MONDO:0001935
name: neurogenic arthropathy
def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [MESH:D001177]
synonym: "arthropathy associated with neurological disorder" EXACT [DOID:14286, ICD9CM_2006:713.5]
synonym: "Charcot's arthropathy" EXACT [DOID:14286]
synonym: "Charcot's joint" RELATED [DOID:14286]
synonym: "neuropathic arthropathy" EXACT [DOID:14286]
synonym: "neuropathic arthropathy (& Charcot's)" EXACT [DOID:14286]
xref: COHD:74723 {source="MONDO:equivalentTo"}
xref: DOID:14286 {source="MONDO:equivalentTo"}
xref: EFO:1001378 {source="MONDO:equivalentTo"}
xref: ICD10:M14.6 {source="DOID:14286"}
xref: ICD9:713.5 {source="DOID:14286"}
xref: MESH:D001177 {source="MONDO:equivalentTo", source="DOID:14286", source="MONDO:ontobio"}
xref: SCTID:359554008 {source="MONDO:kboom-pr-0.89/0.75/0.36", source="MONDO:equivalentTo", source="DOID:14286"}
xref: UMLS:C0003892 {source="MONDO:equivalentTo", source="DOID:14286"}
is_a: MONDO:0006816 {source="DOID:14286", source="EFO:1001378", source="MESH:D001177", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy
relationship: disease_arises_from_feature MONDO:0005071 ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/156514009
property_value: closeMatch http://identifiers.org/snomedct/201734004
property_value: closeMatch http://identifiers.org/snomedct/239824003
property_value: closeMatch http://identifiers.org/snomedct/268056006
property_value: closeMatch http://identifiers.org/snomedct/60730005
property_value: closeMatch http://identifiers.org/snomedct/67536000
property_value: closeMatch http://identifiers.org/snomedct/77602000
property_value: exactMatch DOID:14286
property_value: exactMatch http://identifiers.org/mesh/D001177
property_value: exactMatch http://identifiers.org/snomedct/359554008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003892

[Term]
id: MONDO:0001936
name: brawny scleritis
xref: DOID:14287 {source="MONDO:equivalentTo"}
xref: ICD10:H15.02 {source="DOID:14287"}
xref: ICD9:379.06 {source="MONDO:equivalentTo", source="DOID:14287", source="i2s"}
xref: SCTID:91612009 {source="MONDO:equivalentTo", source="DOID:14287", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155356 {source="MONDO:equivalentTo", source="DOID:14287"}
is_a: MONDO:0001804 {source="DOID:14287", source="linkedlifedata"} ! anterior scleritis
property_value: exactMatch DOID:14287
property_value: exactMatch http://identifiers.org/snomedct/91612009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155356

[Term]
id: MONDO:0001937
name: obsolete LEOPARD syndrome
is_obsolete: true
replaced_by: MONDO:0007893

[Term]
id: MONDO:0001938
name: vulvar dystrophy
def: "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." [NCIT:P378]
synonym: "dystrophy of vulva" EXACT [DOID:14292]
xref: COHD:436480 {source="MONDO:equivalentTo"}
xref: DOID:14292 {source="MONDO:equivalentTo"}
xref: ICD10:N90.4 {source="DOID:14292"}
xref: ICD9:624.0 {source="DOID:14292", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:624.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34565 {source="DOID:14292", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:51689003 {source="DOID:14292", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013426 {source="DOID:14292", source="MONDO:equivalentTo", source="NCIT:C34565"}
is_a: MONDO:0002187 {source="DOID:14292", source="NCIT:C34565/inferred", source="linkedlifedata"} ! vulvar disease
property_value: closeMatch http://identifiers.org/snomedct/198378001
property_value: closeMatch http://identifiers.org/snomedct/198381006
property_value: exactMatch DOID:14292
property_value: exactMatch http://identifiers.org/snomedct/51689003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013426
property_value: exactMatch NCIT:C34565

[Term]
id: MONDO:0001939
name: skin epithelioid hemangioma
def: "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells." [NCIT:C7393]
synonym: "angiolymphoid cutaneous hyperplasia" EXACT [DOID:14308, NCIT:C7393]
synonym: "angiolymphoid hyperplasia of skin" EXACT [NCIT:C7393]
synonym: "angiolymphoid hyperplasia of the skin" EXACT [NCIT:C7393]
synonym: "epithelioid hemangioma of skin" EXACT [NCIT:C7393]
synonym: "epithelioid hemangioma of the skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of the skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin epithelioid hemangioma" EXACT [NCIT:C7393]
synonym: "zone of skin histiocytoid hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:14308 {source="MONDO:equivalentTo"}
xref: EFO:1001424 {source="MONDO:equivalentTo"}
xref: NCIT:C7393 {source="DOID:14308", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:400131007 {source="DOID:14308", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002989 {source="DOID:14308", source="MONDO:equivalentTo", source="NCIT:C7393"}
is_a: MONDO:0003110 {source="DOID:14308", source="MONDO:Redundant", source="MONDOLEX:0001939", source="NCIT:C7393", source="linkedlifedata"} ! skin hemangioma
is_a: MONDO:0021169 {source="DOID:14308", source="MONDO:Redundant", source="MONDOLEX:0001939", source="NCIT:C7393"} ! epithelioid hemangioma
property_value: closeMatch http://identifiers.org/snomedct/254791004
property_value: exactMatch DOID:14308
property_value: exactMatch http://identifiers.org/snomedct/400131007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002989
property_value: exactMatch NCIT:C7393

[Term]
id: MONDO:0001940
name: pleuropneumonia
def: "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura." [MESH:D011001]
xref: DOID:14319 {source="MONDO:equivalentTo"}
xref: MESH:D011001 {source="DOID:14319", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:60485005 {source="DOID:14319", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.94"}
xref: UMLS:C0032241 {source="DOID:14319", source="MONDO:equivalentTo"}
is_a: MONDO:0000986 {source="DOID:14319", source="MESH:D011001"} ! pleurisy
is_a: MONDO:0005249 {source="DOID:14319", source="MESH:D011001", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia
property_value: exactMatch DOID:14319
property_value: exactMatch http://identifiers.org/mesh/D011001
property_value: exactMatch http://identifiers.org/snomedct/60485005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032241

[Term]
id: MONDO:0001941
name: blindness (disorder)
def: "The lack of vision. It is caused by neurological or physiological factors." [NCIT:C97109]
synonym: "blindness" RELATED [DOID:1432]
synonym: "vision impairment" EXACT [DOID:1432]
synonym: "vision loss" EXACT [DOID:1432]
synonym: "visual impairment" EXACT [DOID:1432]
xref: DOID:1432 {source="MONDO:equivalentTo"}
xref: ICD10:H54 {source="MONDO:equivalentTo"}
xref: ICD9:369 {source="DOID:1432"}
xref: MESH:D001766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:105597003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021084 {source="MESH:D001766", source="MONDO:Redundant", source="NCIT:C97109", source="NCIT:C97109/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder
relationship: excluded_subClassOf MONDO:0005283 {source="DOID:1432"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/155146008
property_value: closeMatch http://identifiers.org/snomedct/155150001
property_value: closeMatch http://identifiers.org/snomedct/193698004
property_value: closeMatch http://identifiers.org/snomedct/267729001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155020
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0456909
property_value: exactMatch DOID:1432
property_value: exactMatch http://identifiers.org/mesh/D001766
property_value: exactMatch http://identifiers.org/snomedct/105597003
property_value: exactMatch NCIT:C97109

[Term]
id: MONDO:0001942
name: generalized anxiety disorder
def: "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." [NCIT:P378]
synonym: "GAD" EXACT [NCIT:C92622]
xref: COHD:434613 {source="MONDO:equivalentTo"}
xref: DOID:14320 {source="MONDO:equivalentTo"}
xref: EFO:1001892 {source="MONDO:equivalentTo"}
xref: ICD10:F41.1 {source="MONDO:equivalentTo", source="DOID:14320"}
xref: ICD9:300.02 {source="MONDO:equivalentTo", source="DOID:14320", source="i2s"}
xref: NCIT:C92622 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14320"}
xref: SCTID:21897009 {source="MONDO:equivalentTo", source="DOID:14320", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005618 {source="DOID:14320", source="EFO:1001892", source="NCIT:C92622", source="linkedlifedata"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/snomedct/191706008
property_value: closeMatch http://identifiers.org/snomedct/192401002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270549
property_value: exactMatch DOID:14320
property_value: exactMatch http://identifiers.org/snomedct/21897009
property_value: exactMatch NCIT:C92622

[Term]
id: MONDO:0001943
name: Plasmodium malariae malaria
def: "Malaria resulting from infection by Plasmodium malariae." [NCIT:P378]
synonym: "malaria by Plasmodium malariae" EXACT [DOID:14324, MTHICD9_2006:084.2]
synonym: "quartan malaria" EXACT [DOID:14324, NCIT:C34799]
xref: DOID:14324 {source="MONDO:equivalentTo"}
xref: ICD10:B52 {source="MONDO:equivalentTo", source="DOID:14324"}
xref: ICD10:B52.9 {source="DOID:14324"}
xref: ICD9:084.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:14324"}
xref: NCIT:C34799 {source="MONDO:equivalentTo", source="DOID:14324"}
xref: SCTID:27618009 {source="MONDO:equivalentTo", source="DOID:14324", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0024536 {source="MONDO:equivalentTo", source="DOID:14324"}
is_a: MONDO:0005136 {source="DOID:14324", source="NCIT:C34799", source="linkedlifedata"} ! malaria
property_value: exactMatch DOID:14324
property_value: exactMatch http://identifiers.org/snomedct/27618009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024536
property_value: exactMatch NCIT:C34799

[Term]
id: MONDO:0001944
name: mixed malaria
def: "A malaria that involves infection with more than one species of Plasmodium at the same time." [DOID:14325, PMID:15105024]
synonym: "malaria by more than one parasite" EXACT [DOID:14325]
synonym: "malaria fever by more than one parasite" EXACT [DOID:14325, MTHICD9_2006:084.5]
xref: DOID:14325 {source="MONDO:equivalentTo"}
xref: ICD9:084.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:14325"}
xref: SCTID:21070001 {source="MONDO:equivalentTo", source="DOID:14325", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153121 {source="MONDO:equivalentTo", source="DOID:14325"}
is_a: MONDO:0005136 {source="DOID:14325", source="linkedlifedata"} ! malaria
property_value: exactMatch DOID:14325
property_value: exactMatch http://identifiers.org/snomedct/21070001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153121

[Term]
id: MONDO:0001945
name: postencephalitic Parkinson disease
def: "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." [https://en.wikipedia.org/wiki/Postencephalitic_parkinsonism, MONDO:cjm]
subset: ordo_disease {source="Orphanet:97349"}
synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898]
synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974]
xref: DOID:14332 {source="MONDO:equivalentTo"}
xref: EFO:1001402 {source="MONDO:equivalentTo"}
xref: ICD10:G21.3 {source="ORDO:97349/e", source="Orphanet:97349", source="DOID:14332"}
xref: MESH:D010301 {source="MONDO:equivalentTo", source="DOID:14332", source="MONDO:ontobio"}
xref: NCIT:C34898 {source="MONDO:equivalentTo", source="DOID:14332", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:97349 {source="MONDO:equivalentTo"}
xref: SCTID:19972008 {source="MONDO:equivalentTo", source="DOID:14332", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030568 {source="MONDO:equivalentTo", source="Orphanet:97349", source="DOID:14332", source="NCIT:C34898"}
is_a: MONDO:0006966 {source="DOID:14332", source="MESH:D010301", source="NCIT:C34898"} ! secondary Parkinson disease
is_a: MONDO:0017635 {source="Orphanet:97349"} ! parkinsonian syndrome due to neurodegenerative disease
is_a: MONDO:0020141 {source="Orphanet:97349"} ! infectious disease with dementia
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: closeMatch http://identifiers.org/snomedct/192828004
property_value: exactMatch DOID:14332
property_value: exactMatch http://identifiers.org/mesh/D010301
property_value: exactMatch http://identifiers.org/snomedct/19972008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030568
property_value: exactMatch NCIT:C34898
property_value: exactMatch Orphanet:97349

[Term]
id: MONDO:0001946
name: hyperestrogenism
def: "Abnormally high level of estrogen." [NCIT:P378]
comment: Editor note: consider obsoleting and replacing with HPO class. Note the equivalent class in NCIT is a finding.
synonym: "estrogen Excess" RELATED [NCIT:C113344]
synonym: "hyperestrogenism" EXACT [DOID:14336, ICD9CM_2006:256.0]
xref: COHD:200677 {source="MONDO:equivalentTo"}
xref: DOID:14336 {source="MONDO:equivalentTo"}
xref: EFO:0009004 {source="MONDO:equivalentTo"}
xref: ICD10:E28.0 {source="MONDO:equivalentTo", source="DOID:14336"}
xref: ICD9:256.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:14336"}
xref: SCTID:37295009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14336"}
xref: UMLS:C0154209 {source="MONDO:equivalentTo", source="DOID:14336"}
is_a: MONDO:0001889 {source="DOID:14336", source="EFO:0009004", source="ICD10:E28.0", source="linkedlifedata"} ! ovarian dysfunction
property_value: closeMatch http://identifiers.org/snomedct/190533004
property_value: exactMatch DOID:14336
property_value: exactMatch http://identifiers.org/snomedct/37295009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154209
property_value: exactMatch NCIT:C113344

[Term]
id: MONDO:0001947
name: suppurative thyroiditis
def: "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." [MESH:D013969]
synonym: "acute suppurative thyroiditis" EXACT [DOID:14350]
synonym: "infectious thyroiditis" EXACT [DOID:14350]
synonym: "suppurative thyroiditis" EXACT [DOID:14350, MTHICD9_2006:245.0]
xref: DOID:14350 {source="MONDO:equivalentTo"}
xref: EFO:1001431 {source="MONDO:equivalentTo"}
xref: ICD10:E06.0 {source="DOID:14350", source="MONDO:directSiblingOf"}
xref: MESH:D013969 {source="MONDO:equivalentTo", source="DOID:14350", source="MONDO:ontobio"}
xref: NCIT:C129724 {source="MONDO:equivalentTo"}
xref: SCTID:25476006 {source="MONDO:equivalentTo", source="DOID:14350", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0040150 {source="MONDO:equivalentTo", source="DOID:14350"}
is_a: MONDO:0004126 {source="DOID:14350", source="MESH:D013969", source="NCIT:C129724", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroiditis (disease)
property_value: closeMatch http://identifiers.org/snomedct/3511005
property_value: exactMatch DOID:14350
property_value: exactMatch http://identifiers.org/mesh/D013969
property_value: exactMatch http://identifiers.org/snomedct/25476006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040150
property_value: exactMatch NCIT:C129724

[Term]
id: MONDO:0001948
name: Riedel's fibrosing thyroiditis
def: "An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures." [NCIT:P378]
synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351]
synonym: "Riedel thyroiditis" EXACT [NCIT:C35827]
xref: DOID:14351 {source="MONDO:equivalentTo"}
xref: NCIT:C35827 {source="DOID:14351", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20"}
xref: UMLS:C1335787 {source="DOID:14351", source="MONDO:equivalentTo"}
is_a: MONDO:0004126 {source="DOID:14351", source="NCIT:C35827"} ! thyroiditis (disease)
property_value: exactMatch DOID:14351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335787
property_value: exactMatch NCIT:C35827

[Term]
id: MONDO:0001949
name: acute thyroiditis
def: "Acute form of thyroiditis (disease)." [MONDO:patterns/acute]
synonym: "acute thyroiditis (disease)" EXACT []
synonym: "thyroiditis (disease), acute" EXACT [MONDO:patterns/acute]
xref: COHD:133737 {source="MONDO:equivalentTo"}
xref: DOID:14353 {source="MONDO:equivalentTo"}
xref: ICD10:E06.0 {source="MONDO:equivalentTo", source="DOID:14353"}
xref: ICD9:245.0 {source="MONDO:equivalentTo", source="DOID:14353", source="i2s"}
xref: SCTID:190293001 {source="MONDO:equivalentTo", source="DOID:14353", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0001360 {source="MONDO:equivalentTo", source="DOID:14353"}
is_a: MONDO:0004126 {source="DOID:14353", source="MONDO:Redundant", source="linkedlifedata"} ! thyroiditis (disease)
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/154665005
property_value: closeMatch http://identifiers.org/snomedct/190295008
property_value: exactMatch DOID:14353
property_value: exactMatch http://identifiers.org/snomedct/190293001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001360

[Term]
id: MONDO:0001950
name: corneal ectasia
xref: COHD:380725 {source="MONDO:equivalentTo"}
xref: DOID:1436 {source="MONDO:equivalentTo"}
xref: ICD10:H18.71 {source="DOID:1436"}
xref: ICD9:371.71 {source="MONDO:equivalentTo", source="DOID:1436", source="i2s"}
xref: SCTID:14748007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1436"}
xref: UMLS:C0155135 {source="MONDO:equivalentTo", source="DOID:1436"}
is_a: MONDO:0000942 {source="DOID:1436", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
property_value: exactMatch DOID:1436
property_value: exactMatch http://identifiers.org/snomedct/14748007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155135

[Term]
id: MONDO:0001951
name: Norwegian scabies
def: "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia." [NCIT:P378]
synonym: "crusted scabies" EXACT [DOID:14374]
synonym: "seven year itch" RELATED [GARD:0012151]
xref: DOID:14374 {source="MONDO:equivalentTo"}
xref: GARD:0012151 {source="MONDO:equivalentTo"}
xref: NCIT:C34855 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:14374"}
xref: SCTID:128870005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:14374"}
xref: UMLS:C0028425 {source="MONDO:equivalentTo", source="DOID:14374", source="NCIT:C34855"}
is_a: MONDO:0004525 {source="DOID:14374", source="NCIT:C34855", source="linkedlifedata"} ! scabies
property_value: closeMatch http://identifiers.org/snomedct/187215008
property_value: closeMatch http://identifiers.org/snomedct/67172004
property_value: exactMatch DOID:14374
property_value: exactMatch http://identifiers.org/snomedct/128870005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028425
property_value: exactMatch NCIT:C34855

[Term]
id: MONDO:0001952
name: parietal lobe cancer
def: "A malignant neoplasm involving the parietal lobe" [MONDO:DesignPattern]
synonym: "cancer of parietal lobe" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parietal lobe" EXACT [DOID:14384, MONDO:patterns/cancer]
synonym: "malignant parietal lobe neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "parietal lobe cancer" EXACT [MONDO:patterns/location]
synonym: "parietal lobe neoplasm" RELATED [DOID:14384]
synonym: "tumor of parietal lobe" EXACT EXCLUDE [DOID:14384]
xref: COHD:4181481 {source="MONDO:equivalentTo"}
xref: DOID:14384 {source="MONDO:equivalentTo"}
xref: ICD10:C71.3 {source="DOID:14384", source="MONDO:equivalentTo"}
xref: ICD9:191.3 {source="DOID:14384", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363469001 {source="DOID:14384", source="MONDO:equivalentTo"}
xref: UMLS:C0153637 {source="MEDGEN:kboom-pr97-c98", source="DOID:14384", source="MONDO:equivalentTo"}
is_a: MONDO:0002731 {source="DOID:14384", source="MONDO:Redundant", source="linkedlifedata"} ! cerebral hemisphere cancer
is_a: MONDO:0021373 {source="MONDO:Redundant", source="linkedlifedata"} ! neoplasm of parietal lobe
property_value: closeMatch http://identifiers.org/snomedct/93946000
property_value: exactMatch DOID:14384
property_value: exactMatch http://identifiers.org/snomedct/363469001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153637

[Term]
id: MONDO:0001953
name: pyuria (disease)
def: "The presence of excessive white blood cells in the urine as determined by urinalysis." [NCIT:P378]
synonym: "pus cells in urine" EXACT [DOID:1439]
synonym: "pyuria" EXACT [MONDO:ambiguous]
xref: DOID:1439 {source="MONDO:equivalentTo"}
xref: HP:0012085 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D011776 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1439"}
is_a: MONDO:0002118 {source="DOID:1439", source="MESH:D011776/inferred"} ! urinary system disease
property_value: closeMatch http://identifiers.org/snomedct/144593007
property_value: closeMatch http://identifiers.org/snomedct/167358001
property_value: closeMatch http://identifiers.org/snomedct/275765006
property_value: closeMatch http://identifiers.org/snomedct/4800001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034359
property_value: exactMatch DOID:1439
property_value: exactMatch http://identifiers.org/mesh/D011776
property_value: exactMatch NCIT:C119028

[Term]
id: MONDO:0001954
name: thrombophlebitis migrans
def: "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." [DOID:14392, http://en.wikipedia.org/wiki/Thrombophlebitis]
xref: COHD:439838 {source="MONDO:equivalentTo"}
xref: DOID:14392 {source="MONDO:equivalentTo"}
xref: ICD10:I82.1 {source="DOID:14392", source="MONDO:equivalentTo"}
xref: ICD9:453.1 {source="DOID:14392", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:31268005 {source="DOID:14392", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152250 {source="DOID:14392", source="MONDO:equivalentTo"}
is_a: MONDO:0002800 {source="DOID:14392", source="MONDOLEX:0001954"} ! thrombophlebitis
property_value: closeMatch http://identifiers.org/snomedct/155456002
property_value: closeMatch http://identifiers.org/snomedct/155491005
property_value: exactMatch DOID:14392
property_value: exactMatch http://identifiers.org/snomedct/31268005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152250

[Term]
id: MONDO:0001955
name: protozoal dysentery
def: "A dysentery that involves protozoan infection." [DOID:14397, http://en.wikipedia.org/wiki/Dysentery]
xref: DOID:14397 {source="MONDO:equivalentTo"}
xref: ICD10:A07.8 {source="DOID:14397"}
xref: ICD10:B50.B64 {source="MONDO:equivalentTo"}
xref: ICD9:007.8 {source="DOID:14397"}
is_a: MONDO:0001517 {source="DOID:14397", source="MONDO:Entailed", source="MONDO:Redundant"} ! dysentery
is_a: MONDO:0002428 {source="MONDO:Redundant", source="MONDO:cjm"} ! protozoa infectious disease
is_a: MONDO:0024270 ! parasitic intestinal disease
intersection_of: MONDO:0001517 ! dysentery
intersection_of: MONDO:0002428 ! protozoa infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186127007
property_value: closeMatch http://identifiers.org/snomedct/187279007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152507
property_value: exactMatch DOID:14397

[Term]
id: MONDO:0001956
name: capillary leak syndrome
def: "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." [NCIT:P378]
subset: ordo_disease {source="Orphanet:188"}
synonym: "acute vascular leak syndrome" EXACT [NCIT:C62578]
synonym: "AVLS" EXACT [NCIT:C62578]
synonym: "capillary hyperpermeability syndrome" EXACT [Orphanet:188]
synonym: "capillary leak syndrome" EXACT [Orphanet:188]
synonym: "capillary leak syndrome with monoclonal gammopathy" RELATED [GARD:0001084]
synonym: "Clarkson disease" EXACT [Orphanet:188]
synonym: "CLS" EXACT [NCIT:C62578]
synonym: "idiopathic capillary leak syndrome" EXACT [Orphanet:188]
synonym: "periodic systemic capillary leak syndrome" RELATED [GARD:0001084]
synonym: "SCLS" EXACT [Orphanet:188]
synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996]
xref: DOID:14400 {source="MONDO:equivalentTo"}
xref: GARD:0001084 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I78.8 {source="ORDO:188/ntbt", source="Orphanet:188"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10007196 {source="ORDO:188/e", source="Orphanet:188"}
xref: MESH:D019559 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:188/e", source="Orphanet:188", source="DOID:14400"}
xref: NCIT:C62578 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.79/1.45", source="DOID:14400"}
xref: Orphanet:188 {source="MONDO:equivalentTo"}
xref: SCTID:87730004 {source="MONDO:equivalentTo", source="DOID:14400", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343084 {source="NCIT:C62578", source="MONDO:equivalentTo", source="ORDO:188/e", source="Orphanet:188", source="DOID:14400"}
is_a: MONDO:0001574 {source="DOID:14400", source="linkedlifedata"} ! capillary disease
is_a: MONDO:0002254 {source="MONDOLEX:0001956", source="NCIT:C62578"} ! syndromic disease
is_a: MONDO:0015938 {source="Orphanet:188"} ! systemic disease
property_value: exactMatch DOID:14400
property_value: exactMatch http://identifiers.org/meddra/10007196
property_value: exactMatch http://identifiers.org/mesh/D019559
property_value: exactMatch http://identifiers.org/snomedct/87730004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343084
property_value: exactMatch NCIT:C62578
property_value: exactMatch Orphanet:188

[Term]
id: MONDO:0001957
name: critical illness polyneuropathy
xref: COHD:374032 {source="MONDO:equivalentTo"}
xref: DOID:14402 {source="MONDO:equivalentTo"}
xref: ICD10:G62.81 {source="MONDO:equivalentTo", source="DOID:14402"}
xref: ICD9:357.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:14402"}
xref: SCTID:230594005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14402"}
xref: UMLS:C0393851 {source="MONDO:equivalentTo", source="DOID:14402"}
is_a: MONDO:0001824 ! polyneuropathy
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14402"} ! inflammatory and toxic neuropathy
property_value: exactMatch DOID:14402
property_value: exactMatch http://identifiers.org/snomedct/230594005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393851

[Term]
id: MONDO:0001958
name: obsolete autosomal dominant cerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0020380

[Term]
id: MONDO:0001959
name: labyrinthine bilateral reactive loss
synonym: "bilateral loss of labyrinthine reactivity" EXACT [DOID:14413]
synonym: "loss of labyrinthine reactivity, bilateral" EXACT [DOID:14413, ICD9CM_2006:386.56]
xref: DOID:14413 {source="MONDO:equivalentTo"}
xref: ICD9:386.56 {source="DOID:14413"}
xref: SCTID:194377001 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:14413"}
xref: UMLS:C0155520 {source="MONDO:equivalentTo", source="DOID:14413"}
is_a: MONDO:0003571 {source="DOID:14413", source="linkedlifedata"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/2058001
property_value: exactMatch DOID:14413
property_value: exactMatch http://identifiers.org/snomedct/194377001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155520

[Term]
id: MONDO:0001960
name: obsolete Alpers syndrome
is_obsolete: true
replaced_by: MONDO:0008758

[Term]
id: MONDO:0001961
name: obsolete glossopharyngeal neuralgia
is_obsolete: true
replaced_by: MONDO:0016372

[Term]
id: MONDO:0001962
name: abnormality of glucagon secretion
synonym: "glucagon secretion abnormality" EXACT [DOID:14427]
xref: DOID:14427 {source="MONDO:equivalentTo"}
xref: ICD9:251.4 {source="DOID:14427", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:11178005 {source="DOID:14427", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0154191 {source="DOID:14427", source="MONDO:equivalentTo"}
is_a: MONDO:0001933 {source="DOID:14427", source="linkedlifedata/inferred"} ! endocrine pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/190442008
property_value: exactMatch DOID:14427
property_value: exactMatch http://identifiers.org/snomedct/11178005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154191

[Term]
id: MONDO:0001963
name: obsolete cerebral degeneration disease
is_obsolete: true
replaced_by: MONDO:0005559

[Term]
id: MONDO:0001964
name: chronic tubotympanic suppurative otitis media
def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." [DOID:14435, http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false]
xref: COHD:375290 {source="MONDO:equivalentTo"}
xref: DOID:14435 {source="MONDO:equivalentTo"}
xref: ICD10:H66.1 {source="MONDO:equivalentTo", source="DOID:14435"}
xref: ICD10:H66.10 {source="DOID:14435"}
xref: ICD9:382.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14435"}
xref: SCTID:87665008 {source="MONDO:equivalentTo", source="DOID:14435", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155440 {source="MONDO:equivalentTo", source="DOID:14435"}
is_a: MONDO:0005975 {source="DOID:14435", source="MONDOLEX:0001964", source="linkedlifedata", source="linkedlifedata/inferred"} ! suppurative otitis media
property_value: exactMatch DOID:14435
property_value: exactMatch http://identifiers.org/snomedct/87665008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155440

[Term]
id: MONDO:0001965
name: sclerosing keratitis
synonym: "sclerokeratitis" EXACT [DOID:14444]
xref: DOID:14444 {source="MONDO:equivalentTo"}
xref: ICD10:H16.33 {source="DOID:14444"}
xref: ICD9:370.54 {source="MONDO:equivalentTo", source="i2s", source="DOID:14444"}
xref: SCTID:27886001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20", source="DOID:14444"}
xref: UMLS:C0155090 {source="MONDO:equivalentTo", source="DOID:14444"}
is_a: MONDO:0001804 {source="DOID:14444", source="linkedlifedata"} ! anterior scleritis
is_a: MONDO:0004903 {source="DOID:14444"} ! deep keratitis
property_value: closeMatch http://identifiers.org/snomedct/194143001
property_value: closeMatch http://identifiers.org/snomedct/417290008
property_value: exactMatch DOID:14444
property_value: exactMatch http://identifiers.org/snomedct/27886001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155090

[Term]
id: MONDO:0001966
name: chronic closed-angle glaucoma
def: "Chronic form of angle-closure glaucoma." [MONDO:patterns/chronic]
synonym: "anatomical narrow angle glaucoma" EXACT [DOID:14445, MTH:NOCODE]
synonym: "angle-closure glaucoma, chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic angle-closure glaucoma" EXACT [DOID:14445, ICD9CM_2006:365.23]
synonym: "chronic narrow angle glaucoma" EXACT [DOID:14445]
xref: COHD:432312 {source="MONDO:equivalentTo"}
xref: DOID:14445 {source="MONDO:equivalentTo"}
xref: ICD10:H40.22 {source="DOID:14445"}
xref: ICD9:365.23 {source="MONDO:equivalentTo", source="i2s", source="DOID:14445"}
xref: SCTID:33647009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.78/0.08", source="DOID:14445"}
xref: UMLS:C0154947 {source="MONDO:equivalentTo", source="DOID:14445"}
is_a: MONDO:0001868 {source="DOID:14445"} ! primary angle-closure glaucoma
property_value: closeMatch http://identifiers.org/snomedct/15417005
property_value: closeMatch http://identifiers.org/snomedct/314542007
property_value: exactMatch DOID:14445
property_value: exactMatch http://identifiers.org/snomedct/33647009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154947

[Term]
id: MONDO:0001967
name: gonadal dysgenesis
def: "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." [NCIT:C61420]
subset: gard_rare {source="GARD:0002538"}
synonym: "gonadal dysgenesis syndrome" EXACT [DOID:14447]
xref: COHD:201951 {source="MONDO:equivalentTo"}
xref: DOID:14447 {source="MONDO:equivalentTo"}
xref: GARD:0002538 {source="MONDO:equivalentTo"}
xref: ICD9:758.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:14447"}
xref: MESH:D006059 {source="MONDO:equivalentTo", source="DOID:14447"}
xref: NCIT:C61420 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:14447"}
xref: SCTID:205681004 {source="MONDO:equivalentTo", source="DOID:14447", source="MONDO:kboom-pr-0.92/0.82/0.23"}
is_a: MONDO:0002146 {source="DOID:14447"} ! hypogonadism
property_value: closeMatch http://identifiers.org/snomedct/157020008
property_value: closeMatch http://identifiers.org/snomedct/205692003
property_value: closeMatch http://identifiers.org/snomedct/205695001
property_value: closeMatch http://identifiers.org/snomedct/268356004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018051
property_value: exactMatch DOID:14447
property_value: exactMatch http://identifiers.org/mesh/D006059
property_value: exactMatch http://identifiers.org/snomedct/205681004
property_value: exactMatch NCIT:C61420
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis xsd:anyURI {source="GARD:0002538"}

[Term]
id: MONDO:0001968
name: obsolete 46 XY gonadal dysgenesis
is_obsolete: true
replaced_by: MONDO:0010765

[Term]
id: MONDO:0001969
name: mixed gonadal dysgenesis
def: "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." [MESH:D006060]
subset: gard_rare {source="GARD:0002539"}
synonym: "gonadal dysgenesis mixed" RELATED [GARD:0002539]
xref: DOID:14449 {source="MONDO:equivalentTo"}
xref: GARD:0002539 {source="MONDO:equivalentTo"}
xref: MESH:D006060 {source="DOID:14449", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:83579008 {source="DOID:14449", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018055 {source="DOID:14449", source="MONDO:equivalentTo"}
is_a: MONDO:0019499 {source="DOID:14449", source="linkedlifedata", source="linkedlifedata/inferred"} ! Turner syndrome
property_value: closeMatch http://identifiers.org/snomedct/205682006
property_value: exactMatch DOID:14449
property_value: exactMatch http://identifiers.org/mesh/D006060
property_value: exactMatch http://identifiers.org/snomedct/83579008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018055
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed xsd:anyURI {source="GARD:0002539"}

[Term]
id: MONDO:0001970
name: obsolete hypokalemic periodic paralysis
is_obsolete: true
replaced_by: MONDO:0008223

[Term]
id: MONDO:0001971
name: farmer's lung disease
def: "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." [NCIT:P378]
subset: gard_rare {source="GARD:0006427"}
subset: ordo_disease {source="Orphanet:99906"}
synonym: "farmer lung" EXACT [DOID:14453]
synonym: "farmer's lung" EXACT [MONDO:0020534]
synonym: "Farmers lung" EXACT [DOID:14453]
xref: COHD:435298 {source="MONDO:equivalentTo"}
xref: DOID:14453 {source="MONDO:equivalentTo"}
xref: GARD:0006427 {source="MONDO:equivalentTo"}
xref: ICD10:J67.0 {source="ORDO:99906/e", source="Orphanet:99906", source="DOID:14453"}
xref: ICD9:495.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:14453"}
xref: MedDRA:10016221 {source="ORDO:99906/e", source="Orphanet:99906"}
xref: NCIT:C34605 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14453"}
xref: Orphanet:99906 {source="MONDO:equivalentTo"}
xref: SCTID:18690003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.85", source="DOID:14453"}
xref: UMLS:C0015634 {source="NCIT:C34605", source="MONDO:equivalentTo", source="ORDO:99906/e", source="Orphanet:99906", source="DOID:14453"}
is_a: MONDO:0004553 {source="DOID:14453", source="MONDO:Redundant"} ! extrinsic allergic alveolitis
is_a: MONDO:0020537 {source="Orphanet:99906"} ! occupational allergic alveolitis
property_value: closeMatch http://identifiers.org/snomedct/155581001
property_value: closeMatch http://identifiers.org/snomedct/266399001
property_value: exactMatch DOID:14453
property_value: exactMatch http://identifiers.org/meddra/10016221
property_value: exactMatch http://identifiers.org/mesh/D005203
property_value: exactMatch http://identifiers.org/snomedct/18690003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015634
property_value: exactMatch NCIT:C34605
property_value: exactMatch Orphanet:99906
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6427/farmers-lung xsd:anyURI {source="GARD:0006427"}

[Term]
id: MONDO:0001972
name: Brucella melitensis brucellosis
def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain." [DOID:14456, http://www.bmj.com/cgi/reprint/1/5644/612.pdf]
xref: DOID:14456 {source="MONDO:equivalentTo"}
xref: ICD10:A23.0 {source="DOID:14456"}
xref: ICD9:023.0 {source="DOID:14456"}
xref: SCTID:427999003 {source="MONDO:equivalentTo", source="DOID:14456"}
xref: UMLS:C0302362 {source="MONDO:equivalentTo", source="DOID:14456"}
is_a: MONDO:0005683 {source="DOID:14456", source="linkedlifedata"} ! brucellosis
property_value: closeMatch http://identifiers.org/snomedct/186305007
property_value: closeMatch http://identifiers.org/snomedct/30789005
property_value: exactMatch DOID:14456
property_value: exactMatch http://identifiers.org/snomedct/427999003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302362

[Term]
id: MONDO:0001973
name: Brucella abortus brucellosis
def: "A bacterial infection caused by Brucella abortus that spreads from  cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." [DOID:14457]
xref: DOID:14457 {source="MONDO:equivalentTo"}
xref: ICD10:A23.1 {source="DOID:14457"}
xref: ICD9:023.1 {source="DOID:14457"}
xref: SCTID:427795000 {source="MONDO:equivalentTo", source="DOID:14457"}
is_a: MONDO:0005683 {source="DOID:14457", source="linkedlifedata"} ! brucellosis
property_value: closeMatch http://identifiers.org/snomedct/186306008
property_value: closeMatch http://identifiers.org/snomedct/9060000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302363
property_value: exactMatch DOID:14457
property_value: exactMatch http://identifiers.org/snomedct/427795000

[Term]
id: MONDO:0001974
name: hemangioma of orbit
def: "A hemangioma arising from the orbit." [NCIT:P378]
synonym: "angioma of orbit" EXACT [NCIT:C6245]
synonym: "angioma of the orbit" EXACT [DOID:14459, NCIT:C6245]
synonym: "hemangioma of the orbit" EXACT [NCIT:C6245]
synonym: "orbit angioma" EXACT [NCIT:C6245]
synonym: "orbit hemangioma" EXACT [NCIT:C6245]
xref: DOID:14459 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6245 {source="DOID:14459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:121951000119101 {source="DOID:14459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335128 {source="DOID:14459", source="NCIT:C6245", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="DOID:14459", source="NCIT:C6245", source="linkedlifedata"} ! hemangioma
property_value: exactMatch DOID:14459
property_value: exactMatch http://identifiers.org/snomedct/121951000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335128
property_value: exactMatch NCIT:C6245

[Term]
id: MONDO:0001975
name: cavernous hemangioma of orbit
def: "A cavernous hemangioma arising from the orbit." [NCIT:P378]
synonym: "cavernous angioma of orbit" EXACT [DOID:14463, NCIT:C4546]
synonym: "cavernous angioma of the orbit" EXACT [NCIT:C4546]
synonym: "cavernous hemangioma of the orbit" EXACT [NCIT:C4546]
synonym: "orbit cavernous angioma" EXACT [NCIT:C4546]
synonym: "orbit cavernous hemangioma" EXACT [NCIT:C4546]
xref: DOID:14463 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4546 {source="MONDO:equivalentTo", source="DOID:14463", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254998002 {source="MONDO:equivalentTo", source="DOID:14463", source="MONDO:kboom-pr-1.00/0.91/28.32"}
xref: UMLS:C0346352 {source="MONDO:equivalentTo", source="DOID:14463", source="NCIT:C4546"}
is_a: MONDO:0003155 {source="DOID:14463", source="MONDOLEX:0001975", source="NCIT:C4546", source="linkedlifedata"} ! cavernous hemangioma
property_value: exactMatch DOID:14463
property_value: exactMatch http://identifiers.org/snomedct/254998002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346352
property_value: exactMatch NCIT:C4546

[Term]
id: MONDO:0001976
name: chorea gravidarum
def: "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [MESH:D020150]
xref: DOID:14483 {source="MONDO:equivalentTo"}
xref: EFO:1001290 {source="MONDO:equivalentTo"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020150 {source="DOID:14483", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:25113000 {source="DOID:14483", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0264746 {source="DOID:14483", source="MONDO:equivalentTo"}
is_a: MONDO:0001595 {source="DOID:14483", source="MONDO:Redundant", source="linkedlifedata"} ! choreatic disease
is_a: MONDO:0024575 ! pregnancy disorder
intersection_of: MONDO:0001595 ! choreatic disease
intersection_of: MONDO:0024575 ! pregnancy disorder
property_value: exactMatch DOID:14483
property_value: exactMatch http://identifiers.org/mesh/D020150
property_value: exactMatch http://identifiers.org/snomedct/25113000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264746

[Term]
id: MONDO:0001977
name: ureteral lymphoma
def: "A lymphoma that involves the ureter." [MONDO:patterns/location]
synonym: "lymphoma of the ureter" EXACT [NCIT:C6175]
synonym: "lymphoma of ureter" EXACT [DOID:14489, NCIT:C6175]
synonym: "primary ureter lymphoma" EXACT [NCIT:C6175]
synonym: "ureter lymphoma" EXACT [MONDO:patterns/location, NCIT:C6175]
synonym: "ureteral lymphoma" EXACT [DOID:14489, NCIT:C6175]
xref: DOID:14489 {source="MONDO:equivalentTo"}
xref: NCIT:C6175 {source="MONDO:equivalentTo", source="DOID:14489", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336876 {source="NCIT:C6175", source="MONDO:equivalentTo", source="DOID:14489"}
is_a: MONDO:0005062 {source="DOID:14489", source="MONDO:Redundant", source="NCIT:C6175/inferred"} ! lymphoma
is_a: MONDO:0008627 {source="DOID:14489", source="NCIT:C6175"} ! ureter cancer
property_value: exactMatch DOID:14489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336876
property_value: exactMatch NCIT:C6175

[Term]
id: MONDO:0001978
name: regional ureteric cancer
def: "Carcinoma of the ureter without spread to any other region." [NCIT:P378]
synonym: "regional malignant ureteral tumor" EXACT [DOID:14491, NCIT:C8716]
synonym: "regional ureter carcinoma" EXACT [NCIT:C9356]
synonym: "regional ureteric carcinoma" EXACT [DOID:14491, NCIT:C9356]
xref: DOID:14491 {source="MONDO:equivalentTo"}
xref: NCIT:C9356 {source="DOID:14491", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0854921 {source="NCIT:C9356", source="DOID:14491", source="MONDO:equivalentTo"}
is_a: MONDO:0006481 {source="DOID:14491", source="MONDOLEX:0001978", source="NCIT:C9356"} ! ureter carcinoma
property_value: closeMatch NCIT:C8716
property_value: exactMatch DOID:14491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854921
property_value: exactMatch NCIT:C9356

[Term]
id: MONDO:0001979
name: dumping syndrome
def: "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." [NCIT:P378]
synonym: "dumping (jejunal) syndrome" EXACT [DOID:14495]
synonym: "jejunal syndrome" EXACT [DOID:14495, MTHICD9_2006:564.2]
xref: DOID:14495 {source="MONDO:equivalentTo"}
xref: EFO:1001307 {source="MONDO:equivalentTo"}
xref: ICD10:K91.1 {source="DOID:14495"}
xref: MESH:D004377 {source="MONDO:equivalentTo", source="DOID:14495", source="MONDO:ontobio"}
xref: NCIT:C2994 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:14495"}
xref: UMLS:C0013288 {source="MONDO:equivalentTo", source="DOID:14495", source="NCIT:C2994"}
is_a: MONDO:0002254 {source="MONDOLEX:0001979", source="NCIT:C2994"} ! syndromic disease
is_a: MONDO:0004566 {source="DOID:14495", source="MESH:D004377"} ! postgastrectomy syndrome
property_value: closeMatch http://identifiers.org/snomedct/155785007
property_value: closeMatch http://identifiers.org/snomedct/197128007
property_value: closeMatch http://identifiers.org/snomedct/266458008
property_value: closeMatch http://identifiers.org/snomedct/266527005
property_value: exactMatch DOID:14495
property_value: exactMatch http://identifiers.org/mesh/D004377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013288
property_value: exactMatch NCIT:C2994

[Term]
id: MONDO:0001980
name: obsolete Wolman disease
is_obsolete: true
replaced_by: MONDO:0019148

[Term]
id: MONDO:0001981
name: obsolete cholesterol ester storage disease
is_obsolete: true
replaced_by: MONDO:0019149

[Term]
id: MONDO:0001982
name: Niemann-Pick disease
def: "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." [https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease]
subset: gard_rare
synonym: "lipoid histiocytosis" EXACT [DOID:14504]
synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [CSP2005:1849-9151, DOID:14504]
synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [DOID:14504]
synonym: "Niemann-Pick disease, subacute juvenile form" EXACT [DOID:14504]
synonym: "sphingomyelin lipidosis" EXACT [DOID:14504]
synonym: "sphingomyelin/cholesterol lipidosis" EXACT [NCIT:C61269]
synonym: "sphingomyelinase deficiency disease" EXACT [DOID:14504]
synonym: "type A Niemann-Pick disease" NARROW [DOID:14504]
xref: DOID:14504 {source="MONDO:equivalentTo"}
xref: EFO:1001380 {source="MONDO:equivalentTo"}
xref: GARD:0013334 {source="MONDO:equivalentTo"}
xref: ICD10:E75.24 {source="DOID:14504"}
xref: ICD10:E75.242 {source="DOID:14504"}
xref: ICD10:E75.249 {source="DOID:14504"}
xref: MESH:D009542 {source="DOID:14504", source="MONDO:equivalentTo"}
xref: NCIT:C61269 {source="DOID:14504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:58459009 {source="DOID:14504", source="MONDO:equivalentTo"}
xref: UMLS:C0028064 {source="DOID:14504", source="NCIT:C61269", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015531 {source="DOID:14504", source="MESH:D009542"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019255 {source="DOID:14504", source="MESH:D009542", source="NCIT:C61269", source="linkedlifedata"} ! sphingolipidosis
property_value: closeMatch NCIT:C85214
property_value: exactMatch DOID:14504
property_value: exactMatch http://identifiers.org/mesh/D009542
property_value: exactMatch http://identifiers.org/snomedct/58459009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028064
property_value: exactMatch NCIT:C61269

[Term]
id: MONDO:0001983
name: peripheral degeneration of cornea
synonym: "peripheral degenerations of cornea" EXACT [DOID:14507, ICD9CM_2006:371.48]
xref: DOID:14507 {source="MONDO:equivalentTo"}
xref: ICD10:H18.46 {source="DOID:14507"}
xref: ICD9:371.48 {source="DOID:14507", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:89182000 {source="DOID:14507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155123 {source="DOID:14507", source="MONDO:equivalentTo"}
is_a: MONDO:0001515 {source="DOID:14507", source="linkedlifedata"} ! corneal degeneration
property_value: exactMatch DOID:14507
property_value: exactMatch http://identifiers.org/snomedct/89182000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155123

[Term]
id: MONDO:0001984
name: candidal paronychia
def: "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." [DOID:14512, http://emedicine.medscape.com/article/1090632-overview, http://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm]
synonym: "candidiasis of skin" EXACT [DOID:14512]
synonym: "candidiasis of skin and nails" EXACT [DOID:14512]
xref: COHD:133414 {source="MONDO:equivalentTo"}
xref: DOID:14512 {source="MONDO:equivalentTo"}
xref: ICD10:B37.2 {source="DOID:14512"}
xref: ICD9:112.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:14512"}
xref: SCTID:187014000 {source="MONDO:kboom-pr-0.89/0.76/0.36", source="MONDO:equivalentTo", source="DOID:14512"}
xref: UMLS:C0006842 {source="MONDO:equivalentTo", source="DOID:14512"}
xref: UMLS:C1282977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002026 {source="DOID:14512", source="linkedlifedata", source="linkedlifedata/inferred"} ! candidiasis
property_value: closeMatch http://identifiers.org/snomedct/187018002
property_value: exactMatch DOID:14512
property_value: exactMatch http://identifiers.org/snomedct/187014000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282977

[Term]
id: MONDO:0001985
name: partial arterial retinal occlusion
def: "A partial occlusion of the retinal artery." [NCIT:C35192]
synonym: "partial retinal arterial occlusion" EXACT [DOID:14522, ICD9CM_2006:362.33, NCIT:C35192]
synonym: "retinal partial arterial occlusion" EXACT [DOID:14522]
xref: DOID:14522 {source="MONDO:equivalentTo"}
xref: ICD10:H34.21 {source="DOID:14522"}
xref: ICD10:H34.219 {source="DOID:14522"}
xref: ICD9:362.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:14522"}
xref: NCIT:C35192 {source="MONDO:equivalentTo", source="DOID:14522", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:776009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.76", source="DOID:14522"}
xref: UMLS:C0154839 {source="MONDO:equivalentTo", source="DOID:14522", source="NCIT:C35192"}
is_a: MONDO:0006948 {source="DOID:14522", source="NCIT:C35192", source="linkedlifedata"} ! retinal artery occlusion
property_value: closeMatch http://identifiers.org/snomedct/193376004
property_value: exactMatch DOID:14522
property_value: exactMatch http://identifiers.org/snomedct/776009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154839
property_value: exactMatch NCIT:C35192

[Term]
id: MONDO:0001986
name: Argyll Robertson pupil
synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [DOID:14523]
synonym: "Argyll Robertson pupil, atypical" EXACT [DOID:14523, ICD9CM_2006:379.45]
synonym: "atypical Argyll-Robertson pupil" EXACT [DOID:14523]
xref: DOID:14523 {source="MONDO:equivalentTo"}
xref: ICD10:H57.01 {source="MONDO:equivalentTo", source="DOID:14523"}
xref: ICD9:379.45 {source="MONDO:equivalentTo", source="i2s", source="DOID:14523"}
xref: SCTID:21011008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14523"}
xref: UMLS:C0155375 {source="MONDO:equivalentTo", source="DOID:14523"}
is_a: MONDO:0001303 {source="DOID:14523", source="linkedlifedata"} ! abnormal pupillary function (disease)
property_value: exactMatch DOID:14523
property_value: exactMatch http://identifiers.org/snomedct/21011008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155375

[Term]
id: MONDO:0001987
name: senile degeneration of brain
synonym: "Senile brain degen." EXACT [DOID:14524]
xref: COHD:373179 {source="MONDO:equivalentTo"}
xref: DOID:14524 {source="MONDO:equivalentTo"}
xref: ICD9:331.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:14524"}
xref: SCTID:45864009 {source="MONDO:equivalentTo", source="DOID:14524", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154669 {source="MONDO:equivalentTo", source="DOID:14524"}
is_a: MONDO:0005559 {source="DOID:14524", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/154995000
property_value: closeMatch http://identifiers.org/snomedct/154996004
property_value: closeMatch http://identifiers.org/snomedct/192804001
property_value: closeMatch http://identifiers.org/snomedct/267687006
property_value: exactMatch DOID:14524
property_value: exactMatch http://identifiers.org/snomedct/45864009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154669

[Term]
id: MONDO:0001988
name: external pathological resorption
xref: DOID:14529 {source="MONDO:equivalentTo"}
xref: ICD10:K03.3 {source="DOID:14529"}
xref: ICD9:521.42 {source="DOID:14529"}
xref: SCTID:41918006 {source="DOID:14529", source="MONDO:equivalentTo"}
xref: UMLS:C0266878 {source="DOID:14529", source="MONDO:equivalentTo"}
is_a: MONDO:0001670 {source="DOID:14529", source="linkedlifedata"} ! tooth resorption
property_value: closeMatch http://identifiers.org/snomedct/43079004
property_value: exactMatch DOID:14529
property_value: exactMatch http://identifiers.org/snomedct/41918006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266878

[Term]
id: MONDO:0001989
name: atrophic glossitis
synonym: "atrophy of tongue papillae" EXACT [DOID:1453]
synonym: "glossitis, Hunter's" EXACT [DOID:1453, MTHICD9_2006:529.4]
synonym: "Hunter's glossitis" EXACT [DOID:1453]
synonym: "smooth atrophic tongue" EXACT [DOID:1453]
xref: COHD:439060 {source="MONDO:equivalentTo"}
xref: DOID:1453 {source="MONDO:equivalentTo"}
xref: ICD10:K14.4 {source="DOID:1453", source="MONDO:equivalentTo"}
xref: ICD9:529.4 {source="DOID:1453", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:9491003 {source="DOID:1453", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155964 {source="DOID:1453", source="MONDO:equivalentTo"}
is_a: MONDO:0006771 {source="DOID:1453"} ! glossitis
property_value: closeMatch http://identifiers.org/snomedct/196585008
property_value: closeMatch http://identifiers.org/snomedct/196586009
property_value: closeMatch http://identifiers.org/snomedct/196588005
property_value: closeMatch http://identifiers.org/snomedct/196589002
property_value: closeMatch http://identifiers.org/snomedct/50644009
property_value: closeMatch http://identifiers.org/snomedct/69279006
property_value: exactMatch DOID:1453
property_value: exactMatch http://identifiers.org/snomedct/9491003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155964

[Term]
id: MONDO:0001990
name: malignant cardiac peripheral nerve sheath neoplasm
def: "A very rare malignant peripheral nerve sheath tumor that arises from the heart." [NCIT:P378]
synonym: "Cardiac malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "Cardiac MPNST" EXACT [NCIT:C5367]
synonym: "CARDIAC schwannoma, malignant" EXACT [NCIT:C5367]
synonym: "heart malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "heart MPNST" EXACT [NCIT:C5367]
synonym: "malignant Cardiac neurilemmoma" EXACT [NCIT:C5367]
synonym: "malignant Cardiac peripheral nerve sheath neoplasm" EXACT [NCIT:C5367]
synonym: "malignant Cardiac peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "malignant Cardiac schwannoma" EXACT [NCIT:C5367]
synonym: "malignant heart neurilemmoma" EXACT [NCIT:C5367]
synonym: "malignant heart peripheral nerve sheath neoplasm" EXACT [NCIT:C5367]
synonym: "malignant heart peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "malignant heart schwannoma" EXACT [NCIT:C5367]
synonym: "malignant neurilemmoma of heart" EXACT [NCIT:C5367]
synonym: "malignant neurilemmoma of the heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath neoplasm of heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath neoplasm of the heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath tumor of heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath tumor of the heart" EXACT [NCIT:C5367]
synonym: "malignant schwannoma of heart" EXACT [NCIT:C5367]
synonym: "malignant schwannoma of the heart" EXACT [NCIT:C5367]
synonym: "MPNST of heart" EXACT [DOID:14534, NCIT:C5367]
synonym: "MPNST of the heart" EXACT [NCIT:C5367]
xref: DOID:14534 {source="MONDO:equivalentTo"}
xref: NCIT:C5367 {source="MONDO:equivalentTo", source="DOID:14534", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334569 {source="MONDO:equivalentTo", source="NCIT:C5367", source="DOID:14534"}
is_a: MONDO:0003354 ! heart sarcoma
is_a: MONDO:0017827 {source="DOID:14534", source="MONDOLEX:0001990", source="NCIT:C5367"} ! malignant peripheral nerve sheath tumor
property_value: exactMatch DOID:14534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334569
property_value: exactMatch NCIT:C5367

[Term]
id: MONDO:0001991
name: malignant cardiac germ cell tumor
def: "A rare malignant germ cell tumor that arises from the pericardium." [NCIT:C5371]
synonym: "malignant Cardiac germ cell neoplasm" EXACT [NCIT:C5371]
synonym: "malignant Cardiac germ cell tumor" EXACT [NCIT:C5371]
synonym: "malignant germ cell neoplasm of heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell neoplasm of the heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell tumor of heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell tumor of the heart" EXACT [DOID:14535, NCIT:C5371]
synonym: "malignant heart germ cell neoplasm" EXACT [NCIT:C5371]
synonym: "malignant heart germ cell tumor" EXACT [NCIT:C5371]
xref: DOID:14535 {source="MONDO:equivalentTo"}
xref: NCIT:C5371 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:14535"}
xref: UMLS:C1334566 {source="NCIT:C5371", source="MONDO:equivalentTo", source="DOID:14535"}
is_a: MONDO:0001340 {source="DOID:14535", source="MONDO:Redundant", source="NCIT:C5371"} ! heart cancer
is_a: MONDO:0003113 ! extragonadal germ cell cancer
is_a: MONDO:0020589 ! cardiac germ cell tumor
property_value: exactMatch DOID:14535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334566
property_value: exactMatch NCIT:C5371

[Term]
id: MONDO:0001992
name: rete testis adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the rete testis" [MONDO:DesignPattern]
synonym: "adenocarcinoma of rete testis" EXACT [DOID:14544, NCIT:C8955]
synonym: "adenocarcinoma of the rete testis" EXACT [DOID:14544, NCIT:C8955]
synonym: "carcinoma, rete testis, malignant" EXACT [NCIT:C8955]
synonym: "rete testis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C8955]
xref: DOID:14544 {source="MONDO:equivalentTo"}
xref: NCIT:C8955 {source="MONDO:equivalentTo", source="DOID:14544", source="exact-label-match"}
xref: UMLS:C0863024 {source="MONDO:equivalentTo", source="NCIT:C8955", source="DOID:14544"}
is_a: MONDO:0003562 {source="DOID:14544", source="MONDO:Redundant", source="NCIT:C8955"} ! rete testis neoplasm
is_a: MONDO:0004970 {source="DOID:14544", source="MONDO:Redundant", source="MONDOLEX:0001992", source="NCIT:C8955"} ! adenocarcinoma
is_a: MONDO:0005447 ! testicular cancer
property_value: exactMatch DOID:14544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0863024
property_value: exactMatch NCIT:C8955

[Term]
id: MONDO:0001993
name: seminal vesicle adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" [MONDO:DesignPattern]
synonym: "seminal vesicle adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C39906]
xref: DOID:14545 {source="MONDO:equivalentTo"}
xref: NCIT:C39906 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:14545"}
xref: UMLS:C1519233 {source="MONDO:equivalentTo", source="NCIT:C39906", source="DOID:14545"}
is_a: MONDO:0002790 {source="MONDO:Redundant", source="NCIT:C39906"} ! seminal vesicle tumor
is_a: MONDO:0004970 {source="DOID:14545", source="MONDO:Redundant", source="MONDOLEX:0001993", source="NCIT:C39906"} ! adenocarcinoma
is_a: MONDO:0005447 ! testicular cancer
property_value: exactMatch DOID:14545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519233
property_value: exactMatch NCIT:C39906

[Term]
id: MONDO:0001994
name: sphenoidal sinus cancer
def: "A malignant neoplasm involving the sphenoidal sinus." [MONDO:DesignPattern]
synonym: "cancer of sphenoidal sinus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/cancer, NCIT:C3543]
synonym: "malignant neoplasm of the sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant neoplasm of the sphenoidal sinus" EXACT [NCIT:C3543]
synonym: "malignant sphenoid sinus neoplasm" EXACT [NCIT:C3543]
synonym: "malignant sphenoid sinus tumor" EXACT [NCIT:C3543]
synonym: "malignant sphenoidal sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3543]
synonym: "malignant sphenoidal sinus tumor" EXACT [NCIT:C3543]
synonym: "malignant tumor of sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant tumor of sphenoidal sinus" EXACT [DOID:14546, NCIT:C3543]
synonym: "malignant tumor of the sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant tumor of the sphenoidal sinus" EXACT [NCIT:C3543]
synonym: "sphenoidal sinus cancer" EXACT [MONDO:patterns/location]
xref: DOID:14546 {source="MONDO:equivalentTo"}
xref: ICD10:C31.3 {source="MONDO:equivalentTo", source="DOID:14546"}
xref: ICD9:160.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:14546"}
xref: NCIT:C3543 {source="MONDO:equivalentTo", source="DOID:14546", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:363428005 {source="MONDO:equivalentTo", source="DOID:14546", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153479 {source="MONDO:equivalentTo", source="NCIT:C3543", source="DOID:14546"}
is_a: MONDO:0000380 {source="DOID:14546", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0004047 {source="MONDO:Redundant", source="NCIT:C3543", source="linkedlifedata"} ! sphenoidal sinus neoplasm
property_value: closeMatch http://identifiers.org/snomedct/94067008
property_value: exactMatch DOID:14546
property_value: exactMatch http://identifiers.org/snomedct/363428005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153479
property_value: exactMatch NCIT:C3543

[Term]
id: MONDO:0001995
name: sphenoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C6066]
synonym: "epidermoid carcinoma of sphenoid sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of sphenoidal sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of the sphenoid sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of the sphenoidal sinus" EXACT [DOID:14547, NCIT:C6066]
synonym: "sphenoid sinus epidermoid carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoid sinus squamous cell carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoidal sinus epidermoid carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoidal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6066]
synonym: "squamous cell carcinoma of sphenoid sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of sphenoidal sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of the sphenoid sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of the sphenoidal sinus" EXACT [NCIT:C6066]
xref: DOID:14547 {source="MONDO:equivalentTo"}
xref: NCIT:C6066 {source="DOID:14547", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:707355002 {source="MONDO:equivalentTo"}
xref: UMLS:C1336039 {source="DOID:14547", source="NCIT:C6066", source="MONDO:equivalentTo"}
is_a: MONDO:0001994 {source="DOID:14547", source="MONDO:Redundant", source="NCIT:C6066", source="linkedlifedata/inferred"} ! sphenoidal sinus cancer
is_a: MONDO:0044705 ! paranasal sinus squamous cell carcinoma
property_value: exactMatch DOID:14547
property_value: exactMatch http://identifiers.org/snomedct/707355002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336039
property_value: exactMatch NCIT:C6066

[Term]
id: MONDO:0001996
name: steroid-induced glaucoma - borderline
synonym: "borderline glaucoma steroid responder" EXACT [DOID:14548]
synonym: "steroid responders borderline glaucoma" EXACT [DOID:14548, ICD9CM_2006:365.03]
xref: COHD:435809 {source="MONDO:equivalentTo"}
xref: DOID:14548 {source="MONDO:equivalentTo"}
xref: ICD9:365.03 {source="DOID:14548", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:302895007 {source="DOID:14548", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339572 {source="DOID:14548", source="MONDO:equivalentTo"}
is_a: MONDO:0004744 {source="DOID:14548", source="MONDOLEX:0001996", source="linkedlifedata"} ! borderline glaucoma
property_value: closeMatch http://identifiers.org/snomedct/193535007
property_value: exactMatch DOID:14548
property_value: exactMatch http://identifiers.org/snomedct/302895007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339572

[Term]
id: MONDO:0001997
name: root resorption
def: "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" [MESH:D012391]
xref: DOID:14550 {source="MONDO:equivalentTo"}
xref: MESH:D012391 {source="MONDO:equivalentTo", source="DOID:14550", source="MONDO:ontobio"}
xref: UMLS:C0035851 {source="MONDO:equivalentTo", source="DOID:14550"}
is_a: MONDO:0001670 {source="DOID:14550", source="MESH:D012391"} ! tooth resorption
property_value: exactMatch DOID:14550
property_value: exactMatch http://identifiers.org/mesh/D012391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035851

[Term]
id: MONDO:0001998
name: Foster-Kennedy syndrome
def: "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." [MESH:D009901]
xref: DOID:14555 {source="MONDO:equivalentTo"}
xref: EFO:1001330 {source="MONDO:equivalentTo"}
xref: ICD10:H47.14 {source="DOID:14555"}
xref: ICD9:377.04 {source="MONDO:equivalentTo", source="i2s", source="DOID:14555"}
xref: SCTID:87764000 {source="MONDO:equivalentTo", source="DOID:14555", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152112 {source="MONDO:equivalentTo", source="DOID:14555"}
is_a: MONDO:0002003 {source="DOID:14555", source="linkedlifedata", source="linkedlifedata/inferred"} ! papilledema
property_value: exactMatch DOID:14555
property_value: exactMatch http://identifiers.org/snomedct/87764000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152112

[Term]
id: MONDO:0001999
name: primary pulmonary hypertension
def: "Increased blood pressure in the arteries of the lungs; the etiology is unknown." [NCIT:P378]
synonym: "pulmonary hypertension, primary" EXACT [OMIMPS:178600]
xref: DOID:14557 {source="MONDO:equivalentTo"}
xref: ICD10:I27.0 {source="MONDO:equivalentTo", source="DOID:14557"}
xref: ICD9:416.0 {source="MONDO:superClassOf", source="DOID:14557"}
xref: OMIMPS:178600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0001493 {source="DOID:14557"} ! chronic pulmonary heart disease
property_value: closeMatch http://identifiers.org/snomedct/155328008
property_value: closeMatch http://identifiers.org/snomedct/26174007
property_value: closeMatch http://identifiers.org/snomedct/266293003
property_value: exactMatch DOID:14557
property_value: exactMatch NCIT:C97119

[Term]
id: MONDO:0002000
name: anaerobic meningitis
synonym: "meningitis caused by anaerobic bacteria" EXACT [MONDO:0024404]
synonym: "meningitis due to anaerobic bacteria" EXACT []
xref: DOID:14559 {source="MONDO:equivalentTo"}
xref: ICD9:320.81 {source="DOID:14559", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:445059005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854214 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006670 {source="DOID:14559", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial meningitis
is_a: MONDO:0024389 {source="MONDO:Redundant", source="linkedlifedata"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375197
property_value: exactMatch DOID:14559
property_value: exactMatch http://identifiers.org/snomedct/445059005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854214

[Term]
id: MONDO:0002001
name: obsolete disease of cellular proliferation
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0002002
name: postsurgical hypothyroidism
synonym: "post-surgical hypothyroidism" EXACT [DOID:1458]
synonym: "postoperative hypothyroidism" EXACT [DOID:1458]
xref: DOID:1458 {source="MONDO:equivalentTo"}
xref: ICD10:E89.0 {source="DOID:1458"}
xref: ICD9:244.0 {source="MONDO:equivalentTo", source="DOID:1458", source="i2s"}
xref: SCTID:27059002 {source="MONDO:equivalentTo", source="DOID:1458", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154157 {source="MONDO:equivalentTo", source="DOID:1458"}
is_a: MONDO:0005420 {source="DOID:1458", source="linkedlifedata/inferred"} ! hypothyroidism
property_value: closeMatch http://identifiers.org/snomedct/154662008
property_value: closeMatch http://identifiers.org/snomedct/190275002
property_value: exactMatch DOID:1458
property_value: exactMatch http://identifiers.org/snomedct/27059002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154157

[Term]
id: MONDO:0002003
name: papilledema
def: "Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." [NCIT:C3307]
subset: gard_rare {source="GARD:0007318"}
synonym: "Choked disk" RELATED [GARD:0007318]
synonym: "edema of the optic disc" RELATED [GARD:0007318]
synonym: "papilloedema" EXACT [NCIT:C3307]
xref: DOID:146 {source="MONDO:equivalentTo"}
xref: GARD:0007318 {source="MONDO:equivalentTo"}
xref: ICD10:H46.0 {source="DOID:146"}
xref: ICD10:H47.1 {source="DOID:146"}
xref: ICD10:H47.10 {source="DOID:146"}
xref: ICD9:377.0 {source="DOID:146"}
xref: ICD9:377.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:146"}
xref: ICD9:377.31 {source="MONDO:relatedTo", source="DOID:146"}
xref: NCIT:C3307 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match", source="DOID:146"}
xref: SCTID:423341008 {source="MONDO:kboom-pr-0.74/0.45/0.18", source="MONDO:equivalentTo", source="DOID:146"}
is_a: MONDO:0002135 {source="DOID:146", source="MESH:D010211", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease
property_value: closeMatch http://identifiers.org/snomedct/111526001
property_value: closeMatch http://identifiers.org/snomedct/155187009
property_value: closeMatch http://identifiers.org/snomedct/194038006
property_value: closeMatch http://identifiers.org/snomedct/194041002
property_value: closeMatch http://identifiers.org/snomedct/248487006
property_value: closeMatch http://identifiers.org/snomedct/423488006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030353
property_value: exactMatch DOID:146
property_value: exactMatch http://identifiers.org/snomedct/423341008
property_value: exactMatch NCIT:C3307
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7318/papilledema xsd:anyURI {source="GARD:0007318"}

[Term]
id: MONDO:0002004
name: atheroembolism of kidney
def: "A cholesterol embolism that involves the kidney." [MONDO:patterns/location]
synonym: "cholesterol embolism of kidney" EXACT [MONDO:design_pattern]
synonym: "kidney cholesterol embolism" EXACT [MONDO:patterns/location]
xref: DOID:1460 {source="MONDO:equivalentTo"}
xref: ICD10:I75.81 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:1460", source="MONDO:Entailed", source="MONDO:Redundant"} ! kidney disease
is_a: MONDO:0005568 {source="DOID:1460", source="MONDO:Entailed", source="MONDO:Redundant"} ! cholesterol embolism
property_value: exactMatch DOID:1460

[Term]
id: MONDO:0002005
name: obsolete acrodysostosis
is_obsolete: true
replaced_by: MONDO:0019797

[Term]
id: MONDO:0002006
name: serous labyrinthitis
def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." [DOID:1467, http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false]
synonym: "acute serous labyrinthitis" EXACT [DOID:1467]
xref: DOID:1467 {source="MONDO:equivalentTo"}
xref: ICD9:386.31 {source="DOID:1467", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:41674001 {source="DOID:1467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155504 {source="DOID:1467", source="MONDO:equivalentTo"}
is_a: MONDO:0002008 {source="DOID:1467", source="DOID:1467/inferred", source="linkedlifedata"} ! labyrinthitis
property_value: exactMatch DOID:1467
property_value: exactMatch http://identifiers.org/snomedct/41674001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155504

[Term]
id: MONDO:0002007
name: obsolete VACTERL association
is_obsolete: true
replaced_by: MONDO:0008642

[Term]
id: MONDO:0002008
name: labyrinthitis
def: "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." [https://en.wikipedia.org/wiki/Labyrinthitis, NCIT:C128369]
comment: Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case.
synonym: "inflammation of internal ear" EXACT []
synonym: "inner ear infection" EXACT [DOID:3930]
synonym: "internal ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "otitis interna" RELATED [https://en.wikipedia.org/wiki/Labyrinthitis]
xref: COHD:74052 {source="MONDO:equivalentTo"}
xref: DOID:1468 {source="MONDO:equivalentTo"}
xref: DOID:3930 {source="MONDO:equivalentTo"}
xref: ICD10:H83.0 {source="MONDO:equivalentTo", source="DOID:1468"}
xref: ICD10:H83.09 {source="DOID:1468"}
xref: ICD9:386.3 {source="DOID:1468"}
xref: ICD9:386.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:1468"}
xref: MESH:D007762 {source="MONDO:equivalentTo", source="DOID:1468"}
xref: NCIT:C128369 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:23919004 {source="MONDO:equivalentTo", source="DOID:1468", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0022893 {source="MONDO:equivalentTo", source="NCIT:C128369", source="DOID:1468"}
is_a: MONDO:0002467 {source="DOID:1468/inferred", source="DOID:3930", source="ICD10:H83.0/inferred", source="MESH:D007762", source="MONDO:Redundant", source="NCIT:C128369", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! inner ear disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
relationship: excluded_subClassOf MONDO:0002812 {source="DOID:1468"} ! infectious otitis interna
property_value: closeMatch http://identifiers.org/snomedct/155239008
property_value: closeMatch http://identifiers.org/snomedct/194363004
property_value: closeMatch http://identifiers.org/snomedct/194367003
property_value: exactMatch DOID:1468
property_value: exactMatch DOID:3930
property_value: exactMatch http://identifiers.org/mesh/D007762
property_value: exactMatch http://identifiers.org/snomedct/23919004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022893
property_value: exactMatch NCIT:C128369

[Term]
id: MONDO:0002009
name: major depressive disorder
def: "An episode of depression lasting two or more weeks without an intervening episode of mania." [NCIT:P378]
synonym: "recurrent major depression" EXACT [DOID:1470]
synonym: "single major depressive episode" EXACT [DOID:1470]
xref: DOID:1470 {source="MONDO:equivalentTo"}
xref: ICD10:F32 {source="MONDO:subClassOf", source="DOID:1470"}
xref: ICD10:F32.9 {source="DOID:1470"}
xref: ICD10:F33 {source="DOID:1470"}
xref: ICD10:F33.9 {source="DOID:1470"}
xref: ICD9:296.2 {source="DOID:1470"}
xref: ICD9:296.20 {source="DOID:1470"}
xref: ICD9:296.3 {source="DOID:1470"}
xref: ICD9:296.30 {source="DOID:1470"}
xref: MESH:D003865 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1470"}
xref: MFOMD:0000143
xref: SCTID:370143000 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equivalentTo"}
is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="linkedlifedata"} ! depressive disorder
property_value: closeMatch http://identifiers.org/snomedct/191599006
property_value: closeMatch http://identifiers.org/snomedct/191600009
property_value: closeMatch http://identifiers.org/snomedct/191607007
property_value: closeMatch http://identifiers.org/snomedct/191608002
property_value: closeMatch http://identifiers.org/snomedct/191609005
property_value: closeMatch http://identifiers.org/snomedct/191617002
property_value: closeMatch http://identifiers.org/snomedct/192366006
property_value: closeMatch http://identifiers.org/snomedct/268620009
property_value: closeMatch http://identifiers.org/snomedct/268621008
property_value: closeMatch http://identifiers.org/snomedct/36923009
property_value: closeMatch http://identifiers.org/snomedct/66344007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024517
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154409
property_value: exactMatch DOID:1470
property_value: exactMatch http://identifiers.org/mesh/D003865
property_value: exactMatch http://identifiers.org/snomedct/370143000
property_value: exactMatch NCIT:C34796

[Term]
id: MONDO:0002010
name: FG syndrome
def: "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia , constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum . Medical problems including heart defects , seizures , undescended testicle , and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." [GARD:0002317]
subset: gard_rare {source="GARD:0002317"}
synonym: "FGS" RELATED [GARD:0002317]
synonym: "FGS1" NARROW [GARD:0002317]
synonym: "Keller syndrome" EXACT [DOID:14711]
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [GARD:0002317]
synonym: "Opitz-Kaveggia syndrome" NARROW [DOID:14711, GARD:0002317]
xref: DOID:14711 {source="MONDO:equivalentTo"}
xref: GARD:0002317 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:305400 {source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="MONDO:equivalentTo", source="GARD:0002317", source="DOID:14711"}
xref: SCTID:49984004 {source="MONDO:kboom-pr-0.93/0.67/1.86", source="MONDO:equivalentTo", source="DOID:14711"}
xref: UMLS:C0220769 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002317", source="DOID:14711"}
is_a: MONDO:0002254 {source="MONDOLEX:0002010"} ! syndromic disease
property_value: closeMatch http://identifiers.org/mesh/C537923
property_value: exactMatch DOID:14711
property_value: exactMatch http://identifiers.org/snomedct/49984004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220769
property_value: exactMatch Orphanet:323
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome xsd:anyURI {source="GARD:0002317"}

[Term]
id: MONDO:0002011
name: obsolete hereditary angioedema
is_obsolete: true
replaced_by: MONDO:0019623

[Term]
id: MONDO:0002012
name: methylmalonic acidemia
def: "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." [NCIT:C98986]
synonym: "methylmalonic acidemia, cblA type" NARROW [DOID:14749]
synonym: "methylmalonic acidemia, cblB type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria" EXACT [DOID:14749]
synonym: "methylmalonic aciduria cblB type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" NARROW [DOID:14749]
synonym: "methylmalonic aciduria mut type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria type cblA" NARROW [DOID:14749]
synonym: "methylmalonic aciduria type cblB" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, mut type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B" NARROW [DOID:14749]
xref: DOID:14749 {source="MONDO:equivalentTo"}
xref: GARD:0007033 {source="MONDO:equivalentTo"}
xref: ICD10:E71.120 {source="MONDO:equivalentTo"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98986 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:42393006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268583 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C98986"}
xref: UMLS:C1855119 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000688 {source="DOID:14749", source="linkedlifedata"} ! inherited organic acidemia
property_value: exactMatch DOID:14749
property_value: exactMatch http://identifiers.org/snomedct/42393006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855119
property_value: exactMatch NCIT:C98986

[Term]
id: MONDO:0002013
name: lymphangioma
def: "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." [NCIT:C8965]
subset: ordo_group_of_disorders {source="Orphanet:2415"}
synonym: "benign lymphangioma" EXACT [DOID:1475]
synonym: "benign lymphangioma (morphologic abnormality)" EXACT [DOID:1475]
synonym: "congenital lymphangioma" NARROW [DOID:1475]
synonym: "LM" RELATED [Orphanet:2415]
synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415]
synonym: "lymphangioma, benign" EXACT [NCIT:C8965]
xref: COHD:433997 {source="MONDO:equivalentTo"}
xref: DOID:1475 {source="MONDO:equivalentTo"}
xref: GARD:0009789 {source="MONDO:equivalentTo"}
xref: ICD10:D18.1 {source="DOID:1475", source="ORDO:2415/e", source="Orphanet:2415"}
xref: ICD9:228.1 {source="DOID:1475", source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9170/0 {source="NCIT:C8965"}
xref: MESH:D008202 {source="DOID:1475", source="MONDO:equivalentTo"}
xref: NCIT:C8965 {source="DOID:1475", source="MONDO:equivalentTo"}
xref: Orphanet:2415 {source="MONDO:equivalentTo"}
xref: SCTID:254836000 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.69/1.07"}
xref: SCTID:400178008 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.77/1.07"}
xref: UMLS:CN201700 {source="MONDO:equivalentTo"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0016233 {source="Orphanet:2415"} ! rare lymphatic system malformation
is_a: MONDO:0036870 ! lymphatic vessel neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154625006
property_value: closeMatch http://identifiers.org/snomedct/189200000
property_value: closeMatch http://identifiers.org/snomedct/189875000
property_value: closeMatch http://identifiers.org/snomedct/253057002
property_value: closeMatch http://identifiers.org/snomedct/269646001
property_value: closeMatch http://identifiers.org/snomedct/69044001
property_value: closeMatch http://identifiers.org/snomedct/93168006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024221
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398368
property_value: exactMatch DOID:1475
property_value: exactMatch http://identifiers.org/mesh/D008202
property_value: exactMatch http://identifiers.org/snomedct/254836000
property_value: exactMatch http://identifiers.org/snomedct/400178008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201700
property_value: exactMatch NCIT:C8965
property_value: exactMatch Orphanet:2415

[Term]
id: MONDO:0002014
name: autosomal recessive Ehlers-Danlos syndrome, vascular type
def: "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." [https://www.ncbi.nlm.nih.gov/books/NBK1494/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/, MONDO:pr]
synonym: "autosomal recessive type IV Ehlers-Danlos syndrome" EXACT []
synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT [DOID:14759]
synonym: "Ehlers-Danlos syndrome, vascular type, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:14759 {source="MONDO:equivalentTo"}
xref: SCTID:70610001 {source="DOID:14759", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268340 {source="DOID:14759", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="MONDOLEX:0002014", source="https://www.ncbi.nlm.nih.gov/books/NBK1494/", source="linkedlifedata"} ! Ehlers-Danlos syndrome, vascular type
property_value: exactMatch DOID:14759
property_value: exactMatch http://identifiers.org/snomedct/70610001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268340

[Term]
id: MONDO:0002015
name: obsolete brittle cornea syndrome
is_obsolete: true
replaced_by: MONDO:0009242

[Term]
id: MONDO:0002016
name: benign familial neonatal epilepsy
def: "A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)" [MESH:D020936]
synonym: "familial neonatal seizures" EXACT [DOID:14777]
xref: DOID:14777 {source="MONDO:equivalentTo"}
xref: GARD:0002159 {source="MONDO:equivalentTo"}
xref: SCTID:279953009 {source="MONDO:equivalentTo", source="DOID:14777", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000412 {source="DOID:14777"} ! neonatal period electroclinical syndrome
property_value: exactMatch DOID:14777
property_value: exactMatch http://identifiers.org/snomedct/279953009

[Term]
id: MONDO:0002017
name: olivopontocerebellar atrophy
def: "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives." [NCIT:P378]
synonym: "Dejerine-Thomas syndrome" EXACT [DOID:14784, MTHICD9_2006:333.0]
synonym: "OPCA" RELATED [GARD:0007250]
synonym: "Thomas' syndrome" RELATED AMBIGUOUS [DOID:14784]
synonym: "WADIA-swami syndrome" EXACT [DOID:14784]
xref: DOID:14784 {source="MONDO:equivalentTo"}
xref: GARD:0007250 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:G23.8 {source="DOID:14784"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009849 {source="MONDO:equivalentTo", source="DOID:14784"}
xref: NCIT:C84947 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14784"}
xref: SCTID:67761004 {source="MONDO:equivalentTo", source="DOID:14784", source="MONDO:kboom-pr-0.77/0.44/0.54"}
xref: UMLS:C0028968 {source="MONDO:equivalentTo", source="NCIT:C84947", source="DOID:14784"}
is_a: MONDO:0005559 {source="DOID:14784", source="MESH:D009849/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease
relationship: disease_shares_features_of MONDO:0000437 ! cerebellar ataxia
property_value: closeMatch http://identifiers.org/snomedct/192834006
property_value: closeMatch http://identifiers.org/snomedct/37250002
property_value: exactMatch DOID:14784
property_value: exactMatch http://identifiers.org/mesh/D009849
property_value: exactMatch http://identifiers.org/snomedct/67761004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028968
property_value: exactMatch NCIT:C84947

[Term]
id: MONDO:0002018
name: obsolete Leber congenital amaurosis
is_obsolete: true
replaced_by: MONDO:0018998

[Term]
id: MONDO:0002019
name: obsolete hypohidrotic ectodermal dysplasia
is_obsolete: true
replaced_by: MONDO:0016535

[Term]
id: MONDO:0002020
name: obsolete Blount disease
synonym: "obsolete Blount's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0017194

[Term]
id: MONDO:0002021
name: gingival disease
def: "A disease involving the gingiva." [MONDO:patterns/location_top]
synonym: "disease of gingiva" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gingiva" EXACT []
synonym: "disorder of gingiva" EXACT [MONDO:patterns/location_top]
synonym: "disorder of gingiva" RELATED [MONDO:patterns/location_top]
synonym: "gingiva disease" EXACT [MONDO:patterns/location]
synonym: "gingiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1483 {source="MONDO:equivalentTo"}
xref: MESH:D005882 {source="DOID:1483", source="MONDO:equivalentTo"}
xref: SCTID:18718003 {source="DOID:1483", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017563 {source="DOID:1483", source="MONDO:equivalentTo"}
is_a: MONDO:0002635 {source="DOID:1483", source="MESH:D005882"} ! periodontal disease
is_a: MONDO:0044992 ! mouth mucosa disease
property_value: closeMatch http://identifiers.org/snomedct/155642009
property_value: closeMatch http://identifiers.org/snomedct/266489007
property_value: exactMatch DOID:1483
property_value: exactMatch http://identifiers.org/mesh/D005882
property_value: exactMatch http://identifiers.org/snomedct/18718003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017563

[Term]
id: MONDO:0002022
name: disease of orbital region
def: "A disease that involves the orbital region." [MONDO:patterns/location]
synonym: "disease of orbital region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of orbital region" EXACT []
synonym: "disorder of eye region" EXACT []
synonym: "disorder of orbital region" EXACT [MONDO:patterns/location_top]
synonym: "disorder of orbital region" RELATED [MONDO:patterns/location_top]
synonym: "eye and adnexa disease" RELATED [DOID:1492]
synonym: "ophthalmological disorder" RELATED []
synonym: "orbital region disease" EXACT [MONDO:design_pattern]
synonym: "orbital region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1492 {source="MONDO:equivalentTo"}
xref: ICD10:H00.H59 {source="MONDO:equivalentTo"}
xref: ICD10:H35.00 {source="DOID:1492"}
xref: ICD9:362.10 {source="DOID:1492"}
xref: SCTID:371409005 {source="MONDO:equivalentTo"}
is_a: MONDO:0044987 ! face disease
relationship: excluded_subClassOf MONDO:0005128 {source="DOID:1492"} ! obsolete sensory system disease
property_value: closeMatch http://identifiers.org/snomedct/193355009
property_value: closeMatch http://identifiers.org/snomedct/31411005
property_value: closeMatch http://identifiers.org/snomedct/42873008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004608
property_value: exactMatch DOID:1492
property_value: exactMatch http://identifiers.org/snomedct/371409005

[Term]
id: MONDO:0002023
name: obsolete cystic echinococcosis
is_obsolete: true
replaced_by: MONDO:0018408

[Term]
id: MONDO:0002024
name: obsolete cholera
is_obsolete: true
replaced_by: MONDO:0015766

[Term]
id: MONDO:0002025
name: psychiatric disorder
def: "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." [NCIT:C2893]
synonym: "disease of mental health" EXACT [DOID:150]
synonym: "mental disorder" EXACT [NCIT:C2893]
synonym: "mental dysfunction" EXACT [NCIT:C2893]
synonym: "mental illness" EXACT [NCIT:C2893]
synonym: "Psychiatric disease" EXACT [NCIT:C2893]
synonym: "Psychiatric disorder" EXACT [NCIT:C2893]
xref: DOID:150 {source="MONDO:equivalentTo"}
xref: ICD10:F99 {source="DOID:150"}
xref: ICD10:F99-F99 {source="DOID:150"}
xref: MESH:D001523 {source="DOID:150", source="MONDO:equivalentTo"}
xref: MFOMD:0000004
xref: NCIT:C2893 {source="DOID:150", source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
property_value: closeMatch http://identifiers.org/snomedct/154843007
property_value: closeMatch http://identifiers.org/snomedct/154971002
property_value: closeMatch http://identifiers.org/snomedct/154972009
property_value: closeMatch http://identifiers.org/snomedct/154980002
property_value: closeMatch http://identifiers.org/snomedct/192637001
property_value: closeMatch http://identifiers.org/snomedct/192639003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004936
property_value: exactMatch DOID:150
property_value: exactMatch http://identifiers.org/mesh/D001523
property_value: exactMatch NCIT:C2893

[Term]
id: MONDO:0002026
name: candidiasis
def: "Infection with the organism Candida." [NCIT:P378]
synonym: "Candida <Debaryomycetaceae> infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Candida infection" EXACT [NCIT:C26711]
synonym: "Candidosis" EXACT [NCIT:C26711]
synonym: "disseminated candidiasis" NARROW [DOID:1508, ICD9CM_2006:112.5]
synonym: "infections, Candida <Debaryomycetaceae>" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "systemic candidiasis" NARROW [DOID:1508]
synonym: "thrush" EXACT [NCIT:C26711]
xref: COHD:433968 {source="MONDO:equivalentTo"}
xref: DOID:1508 {source="MONDO:equivalentTo"}
xref: ICD10:B37 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: ICD10:B37.9 {source="DOID:1508"}
xref: ICD9:112 {source="DOID:1508"}
xref: ICD9:112.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:112.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1508"}
xref: MESH:D002177 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: NCIT:C26711 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: SCTID:78048006 {source="MONDO:kboom-pr-0.91/0.65/1.60", source="MONDO:equivalentTo", source="DOID:1508"}
xref: UMLS:C0006840 {source="MONDO:equivalentTo", source="NCIT:C26711", source="DOID:1508"}
is_a: MONDO:0002312 {source="DOID:1508", source="MONDO:Redundant"} ! opportunistic mycosis
property_value: closeMatch http://identifiers.org/snomedct/154403005
property_value: closeMatch http://identifiers.org/snomedct/187005005
property_value: closeMatch http://identifiers.org/snomedct/187024008
property_value: closeMatch http://identifiers.org/snomedct/187478002
property_value: exactMatch DOID:1508
property_value: exactMatch http://identifiers.org/mesh/D002177
property_value: exactMatch http://identifiers.org/snomedct/78048006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006840
property_value: exactMatch NCIT:C26711

[Term]
id: MONDO:0002027
name: avoidant personality disorder
def: "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." [NCIT:P378]
synonym: "anxious personality disorder" EXACT [DOID:1509]
xref: COHD:437524 {source="MONDO:equivalentTo"}
xref: DOID:1509 {source="MONDO:equivalentTo"}
xref: ICD10:F60.6 {source="DOID:1509", source="MONDO:equivalentTo"}
xref: ICD9:301.82 {source="DOID:1509"}
xref: NCIT:C92636 {source="DOID:1509", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:231528008 {source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0002028 {source="DOID:1509", source="NCIT:C92636", source="linkedlifedata"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/mesh/D010554
property_value: closeMatch http://identifiers.org/snomedct/191771004
property_value: closeMatch http://identifiers.org/snomedct/37746008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004444
property_value: exactMatch DOID:1509
property_value: exactMatch http://identifiers.org/snomedct/231528008
property_value: exactMatch NCIT:C92636

[Term]
id: MONDO:0002028
name: personality disorder (disease)
def: "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." [NCIT:C34922]
synonym: "character disorder" EXACT [DOID:1510]
synonym: "personality disorder" EXACT [MONDO:ambiguous]
xref: COHD:441838 {source="MONDO:equivalentTo"}
xref: DOID:1510 {source="MONDO:equivalentTo"}
xref: HP:0012075 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:301.8 {source="DOID:1510"}
xref: ICD9:301.89 {source="MONDO:relatedTo", source="DOID:1510", source="i2s"}
xref: ICD9:301.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34922 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:33449004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002025 {source="DOID:1510", source="NCIT:C34922"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/191770003
property_value: closeMatch http://identifiers.org/snomedct/191776009
property_value: closeMatch http://identifiers.org/snomedct/268635005
property_value: closeMatch http://identifiers.org/snomedct/268759009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029707
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031212
property_value: exactMatch DOID:1510
property_value: exactMatch http://identifiers.org/snomedct/33449004
property_value: exactMatch NCIT:C34922

[Term]
id: MONDO:0002029
name: chronic gonorrhea of cervix
def: "Chronic form of gonococcal cervicitis." [MONDO:patterns/chronic]
synonym: "chronic gonococcal cervicitis" EXACT [DOID:1512]
synonym: "gonococcal cervicitis, chronic" EXACT [DOID:1512, ICD9CM_2006:098.35, MONDO:patterns/chronic]
xref: DOID:1512 {source="MONDO:equivalentTo"}
xref: ICD9:098.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:1512"}
xref: SCTID:76802005 {source="MONDO:equivalentTo", source="DOID:1512", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153206 {source="MONDO:equivalentTo", source="DOID:1512"}
is_a: MONDO:0002030 {source="DOID:1512", source="MONDO:Redundant", source="linkedlifedata"} ! chronic cervicitis
is_a: MONDO:0021157 {source="MONDO:Redundant", source="MONDOLEX:0002029", source="linkedlifedata"} ! gonococcal cervicitis
property_value: exactMatch DOID:1512
property_value: exactMatch http://identifiers.org/snomedct/76802005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153206

[Term]
id: MONDO:0002030
name: chronic cervicitis
def: "Chronic inflammation of the cervix." [NCIT:P378]
synonym: "cervicitis (disease), chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic cervicitis (disease)" EXACT []
xref: DOID:1513 {source="MONDO:equivalentTo"}
xref: NCIT:C27057 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:1513"}
xref: SCTID:56728002 {source="MONDO:equivalentTo", source="DOID:1513", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0269062 {source="NCIT:C27057", source="MONDO:equivalentTo", source="DOID:1513"}
is_a: MONDO:0002345 {source="DOID:1513", source="MONDO:Redundant", source="NCIT:C27057", source="linkedlifedata"} ! cervicitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/198210003
property_value: exactMatch DOID:1513
property_value: exactMatch http://identifiers.org/snomedct/56728002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269062
property_value: exactMatch NCIT:C27057

[Term]
id: MONDO:0002031
name: cecal disease
def: "Pathological developments in the cecum." [MESH:D002429]
synonym: "caecum disease" EXACT [MONDO:patterns/location]
synonym: "caecum disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of caecum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of caecum" EXACT []
synonym: "disorder of caecum" EXACT [MONDO:patterns/location_top]
synonym: "disorder of caecum" RELATED [MONDO:patterns/location_top]
xref: DOID:1518 {source="MONDO:equivalentTo"}
xref: MESH:D002429 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1518"}
xref: SCTID:128525008 {source="MONDO:equivalentTo", source="DOID:1518", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007527 {source="MONDO:equivalentTo", source="DOID:1518"}
is_a: MONDO:0003409 ! colonic disease
property_value: exactMatch DOID:1518
property_value: exactMatch http://identifiers.org/mesh/D002429
property_value: exactMatch http://identifiers.org/snomedct/128525008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007527

[Term]
id: MONDO:0002032
name: colon carcinoma
def: "A carcinoma that arises from epithelial cells of the colon" [MONDO:DesignPattern]
synonym: "carcinoma of colon" EXACT [DOID:1520, MONDO:patterns/carcinoma, MTH:191, NCIT:C4910]
synonym: "carcinoma of the colon" EXACT [NCIT:C4910]
synonym: "colon cancer" EXACT [NCIT:C4910]
synonym: "colon carcinoma" EXACT [MONDO:patterns/location, NCIT:C4910]
synonym: "colonic carcinoma" EXACT [DOID:1520, NCIT:C4910]
xref: DOID:1520 {source="MONDO:equivalentTo"}
xref: EFO:1001950 {source="MONDO:equivalentTo"}
xref: NCIT:C4910 {source="DOID:1520", source="MONDO:equivalentTo"}
xref: SCTID:269533000 {source="DOID:1520", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.08"}
xref: UMLS:C0699790 {source="MEDGEN:kboom-pr98-c99", source="DOID:1520", source="MONDO:equivalentTo", source="NCIT:C4910"}
is_a: MONDO:0021063 {source="DOID:1520", source="MONDO:Redundant", source="MONDOLEX:0002032", source="NCIT:C4910", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant colon neoplasm
is_a: MONDO:0024331 ! colorectal carcinoma
is_a: MONDO:0024479 ! epithelial tumor of colon
property_value: closeMatch http://identifiers.org/snomedct/154454005
property_value: exactMatch DOID:1520
property_value: exactMatch http://identifiers.org/snomedct/269533000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699790
property_value: exactMatch NCIT:C4910

[Term]
id: MONDO:0002033
name: cecum cancer
def: "A malignant neoplasm involving the caecum" [MONDO:DesignPattern]
synonym: "caecum cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of caecum" EXACT [MONDO:patterns/cancer]
synonym: "malignant caecum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant cecum neoplasm" EXACT [NCIT:C9329]
synonym: "malignant cecum tumor" EXACT [NCIT:C9329]
synonym: "malignant neoplasm of caecum" EXACT [DOID:1521, MONDO:patterns/cancer]
synonym: "malignant neoplasm of cecum" EXACT [NCIT:C9329]
synonym: "malignant neoplasm of the cecum" EXACT [NCIT:C9329]
synonym: "malignant tumor of cecum" EXACT [NCIT:C9329]
synonym: "malignant tumor of the cecum" EXACT [DOID:1521, NCIT:C9329]
xref: COHD:443391 {source="MONDO:equivalentTo"}
xref: DOID:1521 {source="MONDO:equivalentTo"}
xref: ICD10:C18.0 {source="DOID:1521"}
xref: ICD9:153.4 {source="DOID:1521"}
xref: NCIT:C9329 {source="MONDO:equivalentTo", source="DOID:1521", source="MONDO:kboom-pr-0.98/0.74/3.46"}
xref: UMLS:C0153437 {source="MONDO:equivalentTo", source="DOID:1521", source="NCIT:C9329"}
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C9329"} ! cecal neoplasm
is_a: MONDO:0021063 {source="MONDO:Redundant", source="NCIT:C9329", source="OWLReasoner:2017"} ! malignant colon neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154459000
property_value: closeMatch http://identifiers.org/snomedct/187756005
property_value: closeMatch http://identifiers.org/snomedct/269538009
property_value: closeMatch http://identifiers.org/snomedct/363350007
property_value: closeMatch http://identifiers.org/snomedct/93736007
property_value: exactMatch DOID:1521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153437
property_value: exactMatch NCIT:C9329

[Term]
id: MONDO:0002034
name: cecum lymphoma
def: "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C5515]
synonym: "caecum lymphoma" EXACT [MONDO:patterns/location]
synonym: "cecal lymphoma" EXACT [DOID:1522, NCIT:C5515]
synonym: "cecum lymphoma" EXACT [NCIT:C5515]
synonym: "lymphoma of caecum" EXACT [MONDO:design_pattern]
synonym: "lymphoma of cecum" EXACT [NCIT:C5515]
synonym: "lymphoma of the cecum" EXACT [NCIT:C5515]
synonym: "primary cecum lymphoma" EXACT [NCIT:C5515]
xref: DOID:1522 {source="MONDO:equivalentTo"}
xref: NCIT:C5515 {source="DOID:1522", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332867 {source="DOID:1522", source="MONDO:equivalentTo", source="NCIT:C5515"}
is_a: MONDO:0002033 {source="DOID:1522", source="MONDO:Redundant", source="NCIT:C5515"} ! cecum cancer
is_a: MONDO:0002035 {source="MONDO:Redundant", source="NCIT:C5515", source="OWLReasoner:2017"} ! colon lymphoma
property_value: exactMatch DOID:1522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332867
property_value: exactMatch NCIT:C5515

[Term]
id: MONDO:0002035
name: colon lymphoma
def: "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C4793]
synonym: "colon lymphoma" EXACT [MONDO:patterns/location, NCIT:C4793]
synonym: "colonic lymphoma" EXACT [DOID:1523, NCIT:C4793]
synonym: "lymphoma of colon" EXACT [NCIT:C4793]
synonym: "lymphoma of the colon" EXACT [NCIT:C4793]
synonym: "primary colon lymphoma" EXACT [NCIT:C4793]
xref: DOID:1523 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4793 {source="MONDO:equivalentTo", source="DOID:1523", source="exact-label-match"}
xref: SCTID:133751000119102 {source="MONDO:kboom-pr-0.77/0.38/0.80", source="MONDO:equivalentTo", source="DOID:1523"}
xref: UMLS:C0519037 {source="NCIT:C4793", source="MONDO:equivalentTo", source="DOID:1523"}
is_a: MONDO:0021063 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793", source="OWLReasoner:2017", source="linkedlifedata"} ! malignant colon neoplasm
is_a: MONDO:0024656 ! colorectal lymphoma
property_value: exactMatch DOID:1523
property_value: exactMatch http://identifiers.org/snomedct/133751000119102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0519037
property_value: exactMatch NCIT:C4793

[Term]
id: MONDO:0002036
name: penile disease
def: "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:P378]
synonym: "disease of penis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of penis" EXACT []
synonym: "disorder of penis" EXACT [MONDO:patterns/location_top]
synonym: "disorder of penis" RELATED [MONDO:patterns/location_top]
synonym: "penile disease" EXACT [NCIT:C26846]
synonym: "penile disorder" EXACT [NCIT:C26846]
synonym: "penis disease" EXACT [MONDO:patterns/location]
synonym: "penis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1529 {source="MONDO:equivalentTo"}
xref: ICD10:N48.8 {source="DOID:1529"}
xref: ICD10:N48.89 {source="DOID:1529"}
xref: ICD9:607.8 {source="DOID:1529"}
xref: ICD9:607.89 {source="DOID:1529", source="linkedlifedata"}
xref: ICD9:607.9 {source="linkedlifedata"}
xref: MESH:D010409 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26846 {source="MONDO:equivalentTo"}
xref: SCTID:33958003 {source="MONDO:equivalentTo"}
xref: UMLS:C0030846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26846"}
is_a: MONDO:0003150 {source="DOID:1529", source="MESH:D010409", source="MONDO:Redundant", source="NCIT:C26846", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/198558008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029785
property_value: exactMatch DOID:1529
property_value: exactMatch http://identifiers.org/mesh/D010409
property_value: exactMatch http://identifiers.org/snomedct/33958003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030846
property_value: exactMatch NCIT:C26846

[Term]
id: MONDO:0002037
name: pleural disease
def: "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." [NCIT:P378]
synonym: "disease of pleura" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pleura" EXACT []
synonym: "disorder of pleura" EXACT [DOID:1532, MONDO:patterns/location_top]
synonym: "disorder of pleura" RELATED [MONDO:patterns/location_top]
synonym: "non-neoplastic pleural disease" EXACT [DOID:1532]
synonym: "pleura disease" EXACT [MONDO:patterns/location]
synonym: "pleura disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pleural disorder" EXACT [NCIT:C26859]
synonym: "pleural disorders" EXACT [NCIT:C26859]
xref: DOID:1532 {source="MONDO:equivalentTo"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010995 {source="MONDO:equivalentTo", source="DOID:1532", source="MONDO:ontobio"}
xref: NCIT:C26859 {source="MONDO:equivalentTo", source="DOID:1532"}
xref: SCTID:88075009 {source="MONDO:equivalentTo", source="DOID:1532", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032226 {source="MONDO:equivalentTo", source="DOID:1532"}
is_a: MONDO:0000270 {source="DOID:1532", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lower respiratory tract disease
property_value: exactMatch DOID:1532
property_value: exactMatch http://identifiers.org/mesh/D010995
property_value: exactMatch http://identifiers.org/snomedct/88075009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032226
property_value: exactMatch NCIT:C26859

[Term]
id: MONDO:0002038
name: head and neck carcinoma
def: "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C35850]
synonym: "carcinoma of craniocervical region" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of head and neck" EXACT [NCIT:C35850]
synonym: "carcinoma of neck" EXACT [DOID:1542, MONDO:patterns/carcinoma]
synonym: "carcinoma of the head and neck" EXACT [NCIT:C35850]
synonym: "carcinoma of the neck" EXACT [DOID:1542, NCIT:C6077]
synonym: "craniocervical region carcinoma" EXACT [MONDO:patterns/location]
synonym: "head and neck cancer" RELATED [NCIT:C35850]
synonym: "head and neck carcinoma" EXACT [NCIT:C35850]
synonym: "neck carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1542 {source="MONDO:equivalentTo"}
xref: NCIT:C35850 {source="MONDO:kboom-pr-0.89/0.76/0.33", source="MONDO:equivalentTo"}
xref: UMLS:C1334927 {source="DOID:1542", source="MONDO:equivalentTo"}
xref: UMLS:C3887461 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35850"}
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0002038", source="NCIT:C35850", source="OWLReasoner:2017"} ! carcinoma
is_a: MONDO:0005627 {source="DOID:1542", source="MONDO:Redundant", source="MONDOLEX:0002038", source="NCIT:C35850"} ! head and neck cancer
property_value: closeMatch NCIT:C6077
property_value: exactMatch DOID:1542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887461
property_value: exactMatch NCIT:C35850

[Term]
id: MONDO:0002039
name: cognitive disorder
def: "A disease affects cognitive processes." [MONDO:DesignPattern]
synonym: "cognitive disease" EXACT [DOID:1561]
synonym: "cognitive disorder" EXACT [NCIT:C92196]
synonym: "organic mental disorder" RELATED [DOID:1561, NCIT:C34870]
xref: COHD:374009 {source="MONDO:equivalentTo"}
xref: DOID:1561 {source="MONDO:equivalentTo"}
xref: EFO:1001457 {source="MONDO:equivalentTo"}
xref: ICD10:F09 {source="DOID:1561"}
xref: ICD9:294.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019965 {source="DOID:1561", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92196 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:443265004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.07"}
is_a: MONDO:0002025 {source="MESH:D019965", source="MONDO:Redundant", source="NCIT:C92196", source="OWLReasoner:2017"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/106014008
property_value: closeMatch http://identifiers.org/snomedct/111479008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009241
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029227
property_value: closeMatch NCIT:C34870
property_value: exactMatch DOID:1561
property_value: exactMatch http://identifiers.org/mesh/D019965
property_value: exactMatch http://identifiers.org/snomedct/443265004
property_value: exactMatch NCIT:C92196

[Term]
id: MONDO:0002040
name: dermatomycosis
def: "Superficial infections of the skin or its appendages by any of various fungi." [MESH:D003881]
xref: DOID:1563 {source="MONDO:equivalentTo"}
xref: ICD9:111 {source="DOID:1563"}
xref: ICD9:111.9 {source="DOID:1563"}
xref: MESH:D003881 {source="DOID:1563", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0011630 {source="DOID:1563", source="MONDO:equivalentTo"}
is_a: MONDO:0000254 {source="DOID:1563"} ! cutaneous mycosis
property_value: closeMatch http://identifiers.org/snomedct/186984003
property_value: closeMatch http://identifiers.org/snomedct/187004009
property_value: exactMatch DOID:1563
property_value: exactMatch http://identifiers.org/mesh/D003881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011630

[Term]
id: MONDO:0002041
name: fungal infectious disease
def: "An infection caused by a fungus." [NCIT:C3245]
synonym: "fungal infection" RELATED [NCIT:C3245]
synonym: "Fungi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi disease or disorder" EXACT []
synonym: "Fungi infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Fungi infectious disease" EXACT []
synonym: "infection, fungal" RELATED [NCIT:C3245]
synonym: "infections, Fungi" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "mycoses" RELATED [DOID:1564]
synonym: "mycosis" EXACT [DOID:1564]
xref: COHD:433701 {source="MONDO:equivalentTo"}
xref: DOID:1564 {source="MONDO:equivalentTo"}
xref: ICD10:B35-B49 {source="DOID:1564"}
xref: ICD10:B35.B49 {source="MONDO:equivalentTo"}
xref: ICD10:B49 {source="DOID:1564"}
xref: ICD9:110-118.99 {source="DOID:1564"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009181 {source="DOID:1564", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3245 {source="DOID:1564", source="MONDO:equivalentTo"}
xref: SCTID:3218000 {source="DOID:1564", source="MONDO:kboom-pr-1.00/0.81/11.21", source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="DOID:1564", source="ICD10:B35.B49", source="MONDO:Redundant", source="NCIT:C3245", source="linkedlifedata"} ! infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154393000
property_value: closeMatch http://identifiers.org/snomedct/154394006
property_value: closeMatch http://identifiers.org/snomedct/187110007
property_value: closeMatch http://identifiers.org/snomedct/187472001
property_value: closeMatch http://identifiers.org/snomedct/187498007
property_value: closeMatch http://identifiers.org/snomedct/266214005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026946
property_value: exactMatch DOID:1564
property_value: exactMatch http://identifiers.org/mesh/D009181
property_value: exactMatch http://identifiers.org/snomedct/3218000
property_value: exactMatch NCIT:C3245

[Term]
id: MONDO:0002042
name: mechanical ectropion
def: "An ectropion with a mechanical etiology." [http://eyewiki.aao.org/Ectropion, MONDO:cjm]
xref: COHD:379813 {source="MONDO:equivalentTo"}
xref: DOID:1569 {source="MONDO:equivalentTo"}
xref: ICD10:H02.121-129 {source="MONDO:ICD10Range"}
xref: ICD9:374.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:1569"}
xref: SCTID:45020000 {source="MONDO:equivalentTo", source="DOID:1569", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155194 {source="MONDO:equivalentTo", source="DOID:1569"}
is_a: MONDO:0002043 {source="DOID:1569", source="linkedlifedata"} ! ectropion (disease)
property_value: exactMatch DOID:1569
property_value: exactMatch http://identifiers.org/snomedct/45020000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155194

[Term]
id: MONDO:0002043
name: ectropion (disease)
def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" [MESH:D004483]
synonym: "ectropion" EXACT [MONDO:ambiguous]
synonym: "ectropion of eyelid" EXACT [DOID:1570]
synonym: "everted margin" EXACT [DOID:1570]
xref: COHD:376132 {source="MONDO:equivalentTo"}
xref: DOID:1570 {source="MONDO:equivalentTo"}
xref: HP:0000656 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H02.1 {source="DOID:1570"}
xref: ICD10:H02.10 {source="DOID:1570"}
xref: ICD10:H02.109 {source="DOID:1570"}
xref: ICD9:374.1 {source="DOID:1570"}
xref: ICD9:374.10 {source="DOID:1570", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004483 {source="DOID:1570", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:62909004 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="DOID:1570", source="MONDO:equivalentTo"}
xref: UMLS:C0013592 {source="DOID:1570", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="DOID:1570", source="MESH:D004483", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eyelid disease
property_value: closeMatch http://identifiers.org/snomedct/127559009
property_value: closeMatch http://identifiers.org/snomedct/155178000
property_value: closeMatch http://identifiers.org/snomedct/193934003
property_value: closeMatch http://identifiers.org/snomedct/193935002
property_value: exactMatch DOID:1570
property_value: exactMatch http://identifiers.org/mesh/D004483
property_value: exactMatch http://identifiers.org/snomedct/62909004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013592

[Term]
id: MONDO:0002044
name: spastic ectropion
xref: DOID:1571 {source="MONDO:equivalentTo"}
xref: ICD9:374.13 {source="DOID:1571", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:80846000 {source="DOID:1571", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155195 {source="DOID:1571", source="MONDO:equivalentTo"}
is_a: MONDO:0002043 {source="DOID:1571", source="linkedlifedata"} ! ectropion (disease)
property_value: exactMatch DOID:1571
property_value: exactMatch http://identifiers.org/snomedct/80846000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155195

[Term]
id: MONDO:0002045
name: communicating hydrocephalus
def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." [NCIT:P378]
synonym: "non-obstructive hydrocephalus" EXACT [NCIT:C34501]
xref: COHD:440700 {source="MONDO:equivalentTo"}
xref: DOID:1573 {source="MONDO:equivalentTo"}
xref: ICD10:G91.0 {source="DOID:1573", source="MONDO:equivalentTo"}
xref: ICD9:331.3 {source="DOID:1573", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34501 {source="DOID:1573", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:271569006 {source="DOID:1573", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0009451 {source="DOID:1573", source="MONDO:equivalentTo", source="NCIT:C34501"}
is_a: MONDO:0001150 {source="DOID:1573", source="ICD10:G91.0", source="NCIT:C34501"} ! hydrocephalus
property_value: closeMatch http://identifiers.org/snomedct/59013007
property_value: exactMatch DOID:1573
property_value: exactMatch http://identifiers.org/snomedct/271569006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009451
property_value: exactMatch NCIT:C34501

[Term]
id: MONDO:0002046
name: alcohol abuse
def: "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." [NCIT:P378]
synonym: "abuse, alcohol" RELATED [MESH:D000437]
synonym: "addiction, alcohol" RELATED [MESH:D000437]
synonym: "alcohol abuse" EXACT [MESH:D000437]
synonym: "alcohol addiction" RELATED [MESH:D000437]
synonym: "alcohol dependence" RELATED [MESH:D000437]
synonym: "alcohol use disorder" RELATED [DOID:1574]
synonym: "alcoholic intoxication, chronic" RELATED [MESH:D000437]
synonym: "alcoholism" RELATED [MESH:D000437]
synonym: "chronic alcoholic intoxication" RELATED [MESH:D000437]
synonym: "dependence, alcohol" RELATED [MESH:D000437]
synonym: "ethanol abuse" EXACT [DOID:1574]
synonym: "intoxication, chronic alcoholic" RELATED [MESH:D000437]
xref: COHD:433753 {source="MONDO:equivalentTo"}
xref: DOID:1574 {source="MONDO:equivalentTo"}
xref: ICD10:F10.1 {source="DOID:1574"}
xref: ICD9:305.0 {source="DOID:1574"}
xref: ICD9:305.00 {source="DOID:1574"}
xref: MESH:D000437 {source="DOID:1574", source="MONDO:equivalentTo"}
xref: SCTID:15167005 {source="DOID:1574", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:1574", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
is_a: MONDO:0021698 {source="MESH:D000437", source="MONDO:Redundant"} ! alcohol-related disorders
property_value: closeMatch http://identifiers.org/snomedct/304606004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085762
property_value: exactMatch DOID:1574
property_value: exactMatch http://identifiers.org/mesh/D000437
property_value: exactMatch http://identifiers.org/snomedct/15167005
property_value: exactMatch NCIT:C20701

[Term]
id: MONDO:0002047
name: pulmonary systemic sclerosis
synonym: "lung disease with systemic sclerosis" EXACT [DOID:1578]
synonym: "lung involvement in systemic sclerosis" EXACT [DOID:1578, ICD9CM_2006:517.2]
synonym: "scleroderma lung disease" EXACT [doi:10.1183/09059180.00005512]
synonym: "scleroderma of lung" RELATED []
xref: COHD:255304 {source="MONDO:equivalentTo"}
xref: DOID:1578 {source="MONDO:equivalentTo"}
xref: ICD10:M34.81 {source="DOID:1578"}
xref: ICD9:517.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:1578"}
xref: SCTID:196133001 {source="MONDO:equivalentTo", source="DOID:1578", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339904 {source="MONDO:equivalentTo", source="DOID:1578"}
is_a: MONDO:0005100 {source="DOID:1578", source="MONDOLEX:0002047", source="linkedlifedata"} ! systemic sclerosis
is_a: MONDO:0005275 {source="MONDO:Redundant", source="linkedlifedata"} ! lung disease
property_value: exactMatch DOID:1578
property_value: exactMatch http://identifiers.org/snomedct/196133001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339904

[Term]
id: MONDO:0002048
name: thrombocytopenia due to immune destruction
def: "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)." [NCIT:C3991]
synonym: "auto-immune thrombocytopenia" EXACT [DOID:1587]
synonym: "immune thrombocytopenia" EXACT [NCIT:C3991]
synonym: "thrombocytopenia due to immune destruction" EXACT [DOID:1587, NCIT:C3991]
synonym: "thrombocytopenia due to platelet alloimmunization" RELATED [DOID:1587]
xref: DOID:1587 {source="MONDO:equivalentTo"}
xref: GARD:0006768 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C3991 {source="MONDO:kboom-pr-0.95/0.83/1.04", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1587"}
is_a: MONDO:0002049 {source="DOID:1587", source="NCIT:C3991"} ! thrombocytopenia
property_value: closeMatch http://identifiers.org/snomedct/2897005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272286
property_value: exactMatch DOID:1587
property_value: exactMatch NCIT:C3991

[Term]
id: MONDO:0002049
name: thrombocytopenia
def: "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." [NCIT:C3408]
synonym: "platelet count decreased" EXACT [NCIT:C3408]
synonym: "thrombocytopenic disorder" EXACT [NCIT:C3408]
xref: DOID:1588 {source="MONDO:equivalentTo"}
xref: ICD10:D69.6 {source="DOID:1588"}
xref: ICD9:287.5 {source="DOID:1588", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013921 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3408 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:302215000 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.98"}
xref: UMLS:C0040034 {source="DOID:1588", source="MONDO:equivalentTo"}
xref: UMLS:CN130080 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002245 {source="DOID:1588", source="MESH:D013921", source="linkedlifedata"} ! blood platelet disease
property_value: closeMatch http://identifiers.org/snomedct/142969008
property_value: closeMatch http://identifiers.org/snomedct/154827000
property_value: closeMatch http://identifiers.org/snomedct/165556002
property_value: closeMatch http://identifiers.org/snomedct/191326009
property_value: closeMatch http://identifiers.org/snomedct/415116008
property_value: closeMatch http://identifiers.org/snomedct/70786006
property_value: exactMatch DOID:1588
property_value: exactMatch http://identifiers.org/mesh/D013921
property_value: exactMatch http://identifiers.org/snomedct/302215000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN130080
property_value: exactMatch NCIT:C3408

[Term]
id: MONDO:0002050
name: depressive disorder
def: "A melancholy feeling of sadness and despair." [NCIT:C2982]
synonym: "depression" EXACT [NCIT:C2982]
synonym: "melancholia" RELATED [MESH:D003866]
synonym: "melancholias" RELATED [MESH:D003866]
synonym: "mental depression" EXACT [DOID:1596]
synonym: "syndrome, depressive" RELATED [MESH:D003866]
synonym: "syndromes, depressive" RELATED [MESH:D003866]
xref: DOID:1596 {source="MONDO:equivalentTo"}
xref: ICD10:F32 {source="MONDO:equivalentTo"}
xref: ICD10:F32.9 {source="DOID:1596"}
xref: ICD10:F33.9 {source="DOID:1596"}
xref: ICD9:311 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003866 {source="MONDO:equivalentTo"}
xref: MFOMD:0000013
xref: NCIT:C2982 {source="DOID:1596", source="MONDO:equivalentTo"}
xref: SCTID:35489007 {source="MONDO:equivalentTo"}
xref: UMLS:CN236658 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005371 {source="DOID:1596", source="ICD10:F32", source="MESH:D003866", source="NCIT:C2982", source="linkedlifedata"} ! mood disorder
property_value: closeMatch http://identifiers.org/mesh/D003863
property_value: closeMatch http://identifiers.org/snomedct/154963001
property_value: closeMatch http://identifiers.org/snomedct/192372006
property_value: closeMatch http://identifiers.org/snomedct/307537002
property_value: closeMatch http://identifiers.org/snomedct/41006004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011570
property_value: exactMatch DOID:1596
property_value: exactMatch http://identifiers.org/mesh/D003866
property_value: exactMatch http://identifiers.org/snomedct/35489007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236658
property_value: exactMatch NCIT:C2982

[Term]
id: MONDO:0002051
name: integumentary system disease
alt_id: MONDO:0045027
def: "A disease involving the integumental system." [MONDO:DesignPattern]
synonym: "disease of integumental system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of integumental system" EXACT []
synonym: "disorder of integument" RELATED []
synonym: "disorder of integumental system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of integumental system" RELATED [MONDO:patterns/location_top]
synonym: "integumental system disease" EXACT [MONDO:patterns/location]
synonym: "integumental system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "integumentary disease" EXACT [DOID:16]
xref: DOID:16 {source="MONDO:equivalentTo"}
xref: SCTID:128598002 {source="MONDO:equivalentTo"}
xref: UMLS:C1290011 {source="MONDO:equivalentTo"}
is_a: MONDO:0021199 {source="DOID:16", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder by anatomical region
property_value: exactMatch DOID:16
property_value: exactMatch http://identifiers.org/snomedct/128598002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290011

[Term]
id: MONDO:0002052
name: lymphadenitis (disease)
def: "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." [NCIT:C26821]
synonym: "acute adenitis" EXACT [DOID:1602]
synonym: "acute lymphadenitis" EXACT [DOID:1602, ICD9CM_2006:683]
synonym: "adenitis" EXACT [DOID:1602, NCIT:C26821]
synonym: "chronic adenitis" EXACT [DOID:1602]
synonym: "chronic lymphadenitis" EXACT [DOID:1602, NCIT:C26966]
synonym: "Inflammation of lymph node" EXACT [DOID:1602]
synonym: "inflammation of lymph node" EXACT []
synonym: "lymph gland infection" RELATED [NCIT:C26821]
synonym: "lymph node inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "lymph nodeitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "lymphadenitis" EXACT [MONDO:ambiguous]
xref: DOID:1602 {source="MONDO:equivalentTo"}
xref: HP:0002840 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I88.1 {source="DOID:1602"}
xref: ICD10:I88.9 {source="DOID:1602"}
xref: ICD10:L04 {source="DOID:1602"}
xref: ICD10:L04.9 {source="DOID:1602"}
xref: ICD9:289.1 {source="DOID:1602"}
xref: ICD9:683 {source="MONDO:equivalentTo", source="i2s", source="DOID:1602"}
xref: MESH:D008199 {source="MONDO:equivalentTo", source="DOID:1602", source="MONDO:ontobio"}
xref: NCIT:C26821 {source="MONDO:equivalentTo", source="DOID:1602"}
xref: SCTID:41174002 {source="MONDO:kboom-pr-0.90/0.68/1.13", source="MONDO:equivalentTo", source="DOID:1602"}
xref: UMLS:C0024205 {source="MONDO:equivalentTo", source="NCIT:C26821", source="MEDGEN:kboom-pr92-c94", source="DOID:1602"}
xref: UMLS:C0154304 {source="MONDO:equivalentTo", source="DOID:1602", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0157705 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="DOID:1602"}
is_a: MONDO:0004928 {source="DOID:1602", source="MONDO:Redundant", source="NCIT:C26821", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/154836001
property_value: closeMatch http://identifiers.org/snomedct/154838000
property_value: closeMatch http://identifiers.org/snomedct/156318008
property_value: closeMatch http://identifiers.org/snomedct/19471005
property_value: closeMatch http://identifiers.org/snomedct/200696002
property_value: closeMatch http://identifiers.org/snomedct/274737001
property_value: closeMatch http://identifiers.org/snomedct/287688007
property_value: closeMatch http://identifiers.org/snomedct/32035007
property_value: closeMatch NCIT:C26966
property_value: closeMatch NCIT:C26978
property_value: exactMatch DOID:1602
property_value: exactMatch http://identifiers.org/mesh/D008199
property_value: exactMatch http://identifiers.org/snomedct/41174002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157705
property_value: exactMatch NCIT:C26821

[Term]
id: MONDO:0002053
name: obsolete hypoglycemic coma
xref: COHD:380688 {source="MONDO:obsoleteEquivalent"}
xref: DOID:1607 {source="MONDO:obsoleteEquivalent"}
xref: HP:0001325 {source="MONDO:otherHierarchy"}
xref: ICD10:E15 {source="DOID:1607"}
xref: ICD9:251.0 {source="MONDO:obsoleteEquivalent", source="i2s", source="DOID:1607"}
xref: SCTID:267384006 {source="MONDO:obsoleteEquivalent", source="DOID:1607", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020617 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="DOID:1607"}
property_value: closeMatch http://identifiers.org/snomedct/154692004
property_value: closeMatch http://identifiers.org/snomedct/190428000
property_value: closeMatch http://identifiers.org/snomedct/190430003
property_value: closeMatch http://identifiers.org/snomedct/267476006
property_value: closeMatch http://identifiers.org/snomedct/71898001
property_value: exactMatch DOID:1607
property_value: exactMatch http://identifiers.org/snomedct/267384006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020617
is_obsolete: true
replaced_by: HP:0001325

[Term]
id: MONDO:0002054
name: obsolete breast cancer
is_obsolete: true
replaced_by: MONDO:0007254

[Term]
id: MONDO:0002055
name: benign eccrine breast spiradenoma
def: "A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells." [NCIT:P378]
synonym: "benign breast eccrine spiradenoma" EXACT [NCIT:C5193]
synonym: "benign eccrine breast spiradenoma" EXACT [DOID:1616, NCIT:C5193]
synonym: "benign eccrine spiradenoma of breast" EXACT [NCIT:C5193]
synonym: "benign eccrine spiradenoma of the breast" EXACT [NCIT:C5193]
xref: DOID:1616 {source="MONDO:equivalentTo"}
xref: NCIT:C5193 {source="MONDO:equivalentTo", source="DOID:1616", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332492 {source="MONDO:equivalentTo", source="DOID:1616", source="NCIT:C5193"}
is_a: MONDO:0000620 {source="DOID:1616", source="NCIT:C5193"} ! breast benign neoplasm
is_a: MONDO:0003448 {source="NCIT:C5193"} ! benign spiradenoma
property_value: exactMatch DOID:1616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332492
property_value: exactMatch NCIT:C5193

[Term]
id: MONDO:0002056
name: breast fibroadenoma
def: "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." [NCIT:C3744]
synonym: "breast fibroadenoma" EXACT [NCIT:C3744]
synonym: "cellular fibroadenoma" EXACT [DOID:1618, NCIT:C4276]
synonym: "Complex fibroadenoma of breast" EXACT [DOID:1618, NCIT:C5194]
synonym: "FA" RELATED [ONCOTREE:FA]
synonym: "fibroadenoma" EXACT [DOID:1618, NCIT:C3744]
synonym: "fibroadenoma of breast" EXACT [NCIT:C3744]
synonym: "fibroadenoma of the breast" EXACT [NCIT:C3744]
synonym: "fibroadenoma, benign" EXACT [NCIT:C3744]
synonym: "juvenile fibroadenoma" EXACT [DOID:1618]
synonym: "juvenile fibroadenoma (morphologic abnormality)" EXACT [DOID:1618]
synonym: "juvenile fibroadenoma of breast" EXACT [DOID:1618]
xref: DOID:1618 {source="MONDO:equivalentTo"}
xref: EFO:1000254 {source="MONDO:equivalentTo"}
xref: ICD10:D24 {source="DOID:1618"}
xref: ICDO:9010/0 {source="NCIT:C3744"}
xref: MESH:D018226 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1618"}
xref: NCIT:C3744 {source="MONDO:equivalentTo"}
xref: ONCOTREE:FA {source="MONDO:equivalentTo"}
xref: SCTID:254847007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29", source="DOID:1618"}
xref: UMLS:C0178421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1618"}
xref: UMLS:C0206650 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3744", source="DOID:1618"}
xref: UMLS:C0346158 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1618"}
is_a: MONDO:0000620 {source="DOID:1618", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast benign neoplasm
is_a: MONDO:0021046 {source="NCIT:C3744", source="ONCOTREE:FA"} ! breast fibroepithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189102001
property_value: closeMatch http://identifiers.org/snomedct/189820007
property_value: closeMatch http://identifiers.org/snomedct/254845004
property_value: closeMatch http://identifiers.org/snomedct/269640007
property_value: closeMatch http://identifiers.org/snomedct/46212000
property_value: closeMatch http://identifiers.org/snomedct/65877006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333137
property_value: exactMatch DOID:1618
property_value: exactMatch http://identifiers.org/mesh/D018226
property_value: exactMatch http://identifiers.org/snomedct/254847007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178421
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346158
property_value: exactMatch NCIT:C3744

[Term]
id: MONDO:0002057
name: breast leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40399]
synonym: "breast leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40399]
synonym: "leiomyoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:1623 {source="MONDO:equivalentTo"}
xref: NCIT:C40399 {source="MONDO:equivalentTo", source="DOID:1623", source="exact-label-match"}
xref: UMLS:C1511317 {source="MONDO:equivalentTo", source="DOID:1623", source="NCIT:C40399"}
is_a: MONDO:0000620 {source="DOID:1623", source="MONDO:Redundant", source="NCIT:C40399"} ! breast benign neoplasm
is_a: MONDO:0001572 {source="DOID:1623", source="MONDO:Redundant", source="NCIT:C40399"} ! leiomyoma
property_value: exactMatch DOID:1623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511317
property_value: exactMatch NCIT:C40399

[Term]
id: MONDO:0002058
name: breast adenoma
def: "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." [NCIT:C40382]
synonym: "Ademoma - breast" EXACT [DOID:1625]
synonym: "breast adenoma" EXACT [MONDO:patterns/location, NCIT:C40382]
xref: DOID:1625 {source="MONDO:equivalentTo"}
xref: NCIT:C40382 {source="MONDO:equivalentTo", source="DOID:1625", source="exact-label-match"}
xref: UMLS:C1328385 {source="MONDO:equivalentTo", source="NCIT:C40382", source="DOID:1625"}
is_a: MONDO:0000620 {source="DOID:1625", source="NCIT:C40382"} ! breast benign neoplasm
is_a: MONDO:0004972 {source="DOID:1625", source="MONDO:Redundant", source="NCIT:C40382"} ! adenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/269640007
property_value: exactMatch DOID:1625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328385
property_value: exactMatch NCIT:C40382

[Term]
id: MONDO:0002059
name: obsolete breast duct papilloma
is_obsolete: true
replaced_by: MONDO:0021097

[Term]
id: MONDO:0002060
name: intraductal papilloma
def: "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma." [NCIT:C3785]
synonym: "duct adenoma" EXACT [NCIT:C3785]
synonym: "duct papilloma" EXACT [MONDO:patterns/location]
synonym: "ductal papilloma" EXACT [DOID:1627, NCIT:C3785]
synonym: "intraductal papilloma" EXACT [NCIT:C3785]
synonym: "intraductal papilloma (morphologic abnormality)" EXACT [DOID:1627]
xref: DOID:1627 {source="MONDO:equivalentTo"}
xref: ICDO:8503/0 {source="NCIT:C3785"}
xref: MESH:D018300 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1627"}
xref: NCIT:C3785 {source="MONDO:equivalentTo", source="DOID:1627", source="exact-label-match"}
xref: UMLS:C0206713 {source="MONDO:equivalentTo", source="NCIT:C3785", source="DOID:1627"}
is_a: MONDO:0002363 {source="DOID:1627", source="MONDO:Redundant", source="NCIT:C3785"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/5244003
property_value: exactMatch DOID:1627
property_value: exactMatch http://identifiers.org/mesh/D018300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206713
property_value: exactMatch NCIT:C3785

[Term]
id: MONDO:0002061
name: intraductal papillary breast neoplasm
def: "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." [NCIT:C36090]
synonym: "intraductal papillary breast neoplasm" EXACT [NCIT:C36090]
xref: DOID:1628 {source="MONDO:equivalentTo"}
xref: NCIT:C36090 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:1628"}
xref: UMLS:C1334252 {source="MONDO:equivalentTo", source="NCIT:C36090", source="DOID:1628"}
is_a: MONDO:0002488 {source="DOID:1628", source="NCIT:C36090"} ! intraductal breast neoplasm
property_value: exactMatch DOID:1628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334252
property_value: exactMatch NCIT:C36090

[Term]
id: MONDO:0002062
name: breast myofibroblastoma
def: "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." [NCIT:C40397]
synonym: "breast myofibroblastoma" EXACT [NCIT:C40397]
xref: DOID:1629 {source="MONDO:equivalentTo"}
xref: NCIT:C40397 {source="MONDO:equivalentTo", source="NCIT:C40397", source="DOID:1629"}
xref: UMLS:C1511320 {source="MONDO:equivalentTo", source="NCIT:C40397", source="DOID:1629"}
is_a: MONDO:0000620 {source="DOID:1629", source="NCIT:C40397"} ! breast benign neoplasm
is_a: MONDO:0040675 {source="NCIT:C40397"} ! myofibroblastoma
property_value: exactMatch DOID:1629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511320
property_value: exactMatch NCIT:C40397

[Term]
id: MONDO:0002063
name: breast papillomatosis
def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas." [NCIT:C6977]
synonym: "breast papillomatosis" EXACT [MONDO:patterns/location, NCIT:C6977]
synonym: "papillomatosis of breast" EXACT [NCIT:C6977]
synonym: "papillomatosis of the breast" EXACT [DOID:1634, NCIT:C6977]
xref: DOID:1634 {source="MONDO:equivalentTo"}
xref: NCIT:C6977 {source="MONDO:equivalentTo", source="DOID:1634", source="exact-label-match"}
xref: UMLS:C1332636 {source="MONDO:equivalentTo", source="DOID:1634", source="NCIT:C6977"}
is_a: MONDO:0000620 {source="DOID:1634", source="MONDO:Redundant", source="NCIT:C6977"} ! breast benign neoplasm
is_a: MONDO:0002363 {source="DOID:1634"} ! papilloma
is_a: MONDO:0021098 {source="MONDO:Redundant", source="NCIT:C6977"} ! papillomatosis
property_value: exactMatch DOID:1634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332636
property_value: exactMatch NCIT:C6977

[Term]
id: MONDO:0002064
name: breast angiomatosis
def: "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces." [NCIT:P378]
xref: DOID:1637 {source="MONDO:equivalentTo"}
xref: NCIT:C40381 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1637"}
xref: UMLS:C1511284 {source="MONDO:equivalentTo", source="NCIT:C40381", source="DOID:1637"}
is_a: MONDO:0001574 {source="DOID:1637"} ! capillary disease
is_a: MONDO:0002657 {source="DOID:1637", source="NCIT:C40381/inferred"} ! breast disease
property_value: exactMatch DOID:1637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511284
property_value: exactMatch NCIT:C40381

[Term]
id: MONDO:0002065
name: benign breast adenomyoepithelioma
def: "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." [NCIT:C5144]
synonym: "benign adenomyoepithelioma of breast" EXACT [NCIT:C5144]
synonym: "benign adenomyoepithelioma of the breast" EXACT [DOID:1641, NCIT:C5144]
synonym: "benign breast adenomyoepithelioma" EXACT [NCIT:C5144]
synonym: "breast adenomyoepithelioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:1641 {source="MONDO:equivalentTo"}
xref: NCIT:C5144 {source="DOID:1641", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332477 {source="DOID:1641", source="NCIT:C5144", source="MONDO:equivalentTo"}
is_a: MONDO:0000620 {source="DOID:1641", source="MONDO:Redundant", source="NCIT:C5144"} ! breast benign neoplasm
is_a: MONDO:0002066 {source="MONDO:Redundant", source="NCIT:C5144", source="OWLReasoner:2017"} ! breast adenomyoepithelioma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:1641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332477
property_value: exactMatch NCIT:C5144

[Term]
id: MONDO:0002066
name: breast adenomyoepithelioma
def: "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." [NCIT:C6899]
synonym: "adenomyoepithelioma of the breast" EXACT [DOID:1642, NCIT:C6899]
synonym: "BRAME" RELATED [ONCOTREE:BRAME]
synonym: "breast adenomyoepithelioma" EXACT [NCIT:C6899]
synonym: "breast adenomyoepithelioma with malignant change" EXACT [DOID:1642, NCIT:C5143]
synonym: "malignant adenomyoepithelioma of breast" EXACT [DOID:1642]
xref: DOID:1642 {source="MONDO:equivalentTo"}
xref: ICDO:8983/0 {source="NCIT:C6899"}
xref: NCIT:C6899 {source="MONDO:equivalentTo", source="DOID:1642"}
xref: ONCOTREE:BRAME {source="MONDO:equivalentTo"}
xref: UMLS:C1510795 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1642", source="NCIT:C6899"}
is_a: MONDO:0002483 {source="DOID:1642", source="NCIT:C6899"} ! breast myoepithelial tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334564
property_value: closeMatch NCIT:C5143
property_value: exactMatch DOID:1642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510795
property_value: exactMatch NCIT:C6899

[Term]
id: MONDO:0002067
name: female breast upper-inner quadrant cancer
synonym: "malignant neoplasm of upper-inner quadrant of female breast" EXACT [DOID:1647]
xref: DOID:1647 {source="MONDO:equivalentTo"}
xref: ICD10:C50.2 {source="MONDO:equivalentTo"}
xref: ICD9:174.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:1647"}
xref: SCTID:188152004 {source="MONDO:equivalentTo", source="DOID:1647", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153550 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1647"}
is_a: MONDO:0004379 {source="DOID:1647", source="linkedlifedata"} ! female breast carcinoma
property_value: exactMatch DOID:1647
property_value: exactMatch http://identifiers.org/snomedct/188152004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153550

[Term]
id: MONDO:0002068
name: female breast lower-inner quadrant cancer
synonym: "malignant neoplasm of lower-inner quadrant of female breast" EXACT [DOID:1649]
xref: DOID:1649 {source="MONDO:equivalentTo"}
xref: ICD10:C50.3 {source="MONDO:equivalentTo"}
xref: ICD10:C50.31 {source="DOID:1649"}
xref: ICD9:174.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:1649"}
xref: SCTID:188153009 {source="MONDO:equivalentTo", source="DOID:1649", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153551 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1649"}
is_a: MONDO:0004379 {source="DOID:1649", source="linkedlifedata"} ! female breast carcinoma
property_value: exactMatch DOID:1649
property_value: exactMatch http://identifiers.org/snomedct/188153009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153551

[Term]
id: MONDO:0002069
name: female breast axillary tail cancer
def: "A cancer that involves the UBERON:0035289." [MONDO:patterns/location]
synonym: "axillary tail of breast cancer" EXACT []
synonym: "cancer of axillary tail of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant axillary tail of breast neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of axillary tail of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of axillary tail of female breast" EXACT []
xref: DOID:1650 {source="MONDO:equivalentTo"}
xref: ICD10:C50.6 {source="MONDO:equivalentTo"}
xref: ICD10:C50.61 {source="DOID:1650"}
xref: ICD9:174.6 {source="DOID:1650", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188156001 {source="DOID:1650", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153554 {source="DOID:1650", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004379 {source="DOID:1650", source="linkedlifedata"} ! female breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/93685009
property_value: exactMatch DOID:1650
property_value: exactMatch http://identifiers.org/snomedct/188156001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153554

[Term]
id: MONDO:0002070
name: ventricular septal defect (disease)
def: "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." [NCIT:P378]
synonym: "heart septal defects, ventricular" RELATED [GARD:0007853]
synonym: "interventricular septal defect" EXACT [DOID:1657, MTHICD9_2006:745.4]
synonym: "ventricular septal abnormality" EXACT [DOID:1657]
synonym: "ventricular septal defect" EXACT [MONDO:ambiguous]
synonym: "ventricular septal defects" RELATED [GARD:0007853]
synonym: "VSD" EXACT [NCIT:C84506]
xref: COHD:434462 {source="MONDO:equivalentTo"}
xref: DOID:1657 {source="MONDO:equivalentTo"}
xref: GARD:0007853 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0001629 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q21.0 {source="DOID:1657"}
xref: ICD9:745.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:1657"}
xref: MESH:D006345 {source="MONDO:equivalentTo", source="DOID:1657", source="MONDO:ontobio"}
xref: NCIT:C84506 {source="MONDO:equivalentTo", source="DOID:1657", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:614429 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:30288003 {source="MONDO:equivalentTo", source="DOID:1657", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0002078 {source="DOID:1657", source="MESH:D006345", source="linkedlifedata"} ! heart septal defect
property_value: closeMatch http://identifiers.org/snomedct/156914003
property_value: closeMatch http://identifiers.org/snomedct/204309000
property_value: closeMatch http://identifiers.org/snomedct/204310005
property_value: closeMatch http://identifiers.org/snomedct/204314001
property_value: closeMatch http://identifiers.org/snomedct/253549006
property_value: closeMatch http://identifiers.org/snomedct/270547008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018818
property_value: closeMatch Orphanet:1480
property_value: exactMatch DOID:1657
property_value: exactMatch http://identifiers.org/mesh/D006345
property_value: exactMatch http://identifiers.org/snomedct/30288003
property_value: exactMatch NCIT:C84506

[Term]
id: MONDO:0002071
name: supratentorial cancer
def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173]
synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659, NCIT:C3397]
synonym: "malignant supratentorial neoplasm" EXACT [NCIT:C4964]
synonym: "malignant supratentorial tumor" EXACT [DOID:1659, NCIT:C4964]
synonym: "supratentorial neoplasms, malignant" EXACT [NCIT:C4964]
xref: DOID:1659 {source="MONDO:equivalentTo"}
xref: ICD10:C71.0 {source="DOID:1659"}
xref: MESH:D015173 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1659"}
xref: NCIT:C4964 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1659"}
is_a: MONDO:0001657 {source="DOID:1659", source="MESH:D015173", source="MONDOLEX:0002071", source="NCIT:C4964"} ! brain cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038874
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751589
property_value: closeMatch NCIT:C3397
property_value: exactMatch DOID:1659
property_value: exactMatch http://identifiers.org/mesh/D015173
property_value: exactMatch NCIT:C4964

[Term]
id: MONDO:0002072
name: melanotic neuroectodermal tumor
def: "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." [NCIT:C3717]
synonym: "infantile melanotic neuroectodermal neoplasm" EXACT [DOID:166, NCIT:C3717]
synonym: "melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [DOID:166]
synonym: "melanotic neuroectodermal tumor of infancy" EXACT [NCIT:C3717]
synonym: "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [DOID:166]
synonym: "melanotic Progonoma" EXACT [NCIT:C3717]
synonym: "MNTI" EXACT [NCIT:C3717]
synonym: "pigmented neuroectodermal tumor" EXACT [NCIT:C3717]
synonym: "pigmented neuroectodermal tumour of infancy" EXACT [DOID:166]
synonym: "retinal anlage neoplasm" EXACT [NCIT:C3717]
xref: DOID:166 {source="MONDO:equivalentTo"}
xref: EFO:1001038 {source="MONDO:equivalentTo"}
xref: ICDO:9363/0 {source="NCIT:C3717"}
xref: MESH:D017600 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:166"}
xref: NCIT:C3717 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.82", source="DOID:166"}
xref: SCTID:404042005 {source="MONDO:equivalentTo", source="DOID:166"}
xref: UMLS:C0206094 {source="NCIT:C3717", source="MONDO:equivalentTo", source="DOID:166"}
is_a: MONDO:0005462 {source="MESH:D017600", source="NCIT:C3717"} ! primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:166"} ! bone benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/1513001
property_value: closeMatch http://identifiers.org/snomedct/253076000
property_value: exactMatch DOID:166
property_value: exactMatch http://identifiers.org/mesh/D017600
property_value: exactMatch http://identifiers.org/snomedct/404042005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206094
property_value: exactMatch NCIT:C3717

[Term]
id: MONDO:0002073
name: malignant pineal area germ cell neoplasm
def: "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." [NCIT:P378]
subset: gard_rare
synonym: "malignant germ cell neoplasm of pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of the pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of the pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of the pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of the pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant pineal area germ cell tumor" EXACT [NCIT:C6767]
synonym: "malignant pineal gland germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal gland germ cell tumor" EXACT [NCIT:C6767]
synonym: "malignant pineal parenchymal germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal parenchymal germ cell tumor" EXACT [DOID:1660, NCIT:C6767]
synonym: "malignant pineal region germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal region germ cell tumor" EXACT [NCIT:C6767]
synonym: "pineal cell tumor" RELATED [GARD:0012017]
synonym: "pineal cell tumour" RELATED [GARD:0012017]
synonym: "pineal germ cell neoplasm, malignant" EXACT [NCIT:C6767]
synonym: "pineal germ cell tumor" EXACT [DOID:1660]
synonym: "pineal region germ cell tumor" EXACT [DOID:1660, NCIT:C4659]
synonym: "pineal region germinoma" RELATED [GARD:0012017]
xref: DOID:1660 {source="MONDO:equivalentTo"}
xref: GARD:0012017 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6767 {source="DOID:1660", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:277508009 {source="DOID:1660", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349621 {source="MEDGEN:kboom-pr98-c99", source="DOID:1660", source="MONDO:equivalentTo"}
xref: UMLS:C1334612 {source="MEDGEN:kboom-pr98-c99", source="DOID:1660", source="MONDO:equivalentTo", source="NCIT:C6767"}
is_a: MONDO:0003000 ! central nervous system germ cell tumor
is_a: MONDO:0003113 ! extragonadal germ cell cancer
is_a: MONDO:0003249 {source="DOID:1660", source="MONDO:Redundant", source="NCIT:C6767"} ! pineal gland cancer
property_value: closeMatch http://identifiers.org/snomedct/670553017
property_value: closeMatch NCIT:C4659
property_value: exactMatch DOID:1660
property_value: exactMatch http://identifiers.org/snomedct/277508009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334612
property_value: exactMatch NCIT:C6767

[Term]
id: MONDO:0002074
name: Behcet syndrome arthropathy
def: "Arthropathy resulting from Behcet's syndrome." [NCIT:P378]
synonym: "arthropathy in Behcet's syndrome" EXACT [NCIT:C35225]
synonym: "arthropathy in Behcet's syndrome involving ankle and foot" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving forearm" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving hand" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving lower leg" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving multiple sites" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving shoulder region" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving upper arm" EXACT [DOID:1670]
synonym: "Behcet syndrome arthropathy" EXACT [DOID:1670]
synonym: "Behcet's syndrome arthropathy" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:1670 {source="MONDO:equivalentTo"}
xref: ICD9:711.2 {source="DOID:1670"}
xref: ICD9:711.20 {source="DOID:1670", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:711.23 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:711.26 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:711.28 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35225 {source="DOID:1670", source="MONDO:equivalentTo"}
xref: SCTID:62918002 {source="DOID:1670", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.14"}
xref: UMLS:C0157770 {source="DOID:1670", source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:1670", source="NCIT:C35225", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/201484007
property_value: closeMatch http://identifiers.org/snomedct/201494002
property_value: closeMatch http://identifiers.org/snomedct/267884002
property_value: exactMatch DOID:1670
property_value: exactMatch http://identifiers.org/snomedct/62918002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157770
property_value: exactMatch NCIT:C35225

[Term]
id: MONDO:0002075
name: spontaneous tension pneumothorax
xref: COHD:258787 {source="MONDO:equivalentTo"}
xref: DOID:1672 {source="MONDO:equivalentTo"}
xref: ICD10:J93.0 {source="DOID:1672", source="MONDO:equivalentTo"}
xref: ICD9:512.0 {source="DOID:1672", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:196102003 {source="DOID:1672", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155907 {source="DOID:1672", source="MONDO:equivalentTo"}
is_a: MONDO:0002076 {source="DOID:1672", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumothorax (disease)
property_value: closeMatch http://identifiers.org/snomedct/76537003
property_value: exactMatch DOID:1672
property_value: exactMatch http://identifiers.org/snomedct/196102003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155907

[Term]
id: MONDO:0002076
name: pneumothorax (disease)
def: "Abnormal presence of air in the pleural cavity." [NCIT:P378]
synonym: "pneumothorax" EXACT [MONDO:ambiguous]
xref: COHD:253796 {source="MONDO:equivalentTo"}
xref: DOID:1673 {source="MONDO:equivalentTo"}
xref: HP:0002107 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J93.1 {source="DOID:1673"}
xref: ICD9:512.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C38006 {source="MONDO:equivalentTo"}
xref: SCTID:36118008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0002037 {source="DOID:1673", source="MESH:D011030", source="NCIT:C38006/inferred"} ! pleural disease
property_value: closeMatch http://identifiers.org/snomedct/196103008
property_value: closeMatch http://identifiers.org/snomedct/196105001
property_value: closeMatch http://identifiers.org/snomedct/196251008
property_value: closeMatch http://identifiers.org/snomedct/266367007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029850
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032326
property_value: exactMatch DOID:1673
property_value: exactMatch http://identifiers.org/mesh/D011030
property_value: exactMatch http://identifiers.org/snomedct/36118008
property_value: exactMatch NCIT:C38006

[Term]
id: MONDO:0002077
name: low implantation of placenta
xref: DOID:1677 {source="MONDO:equivalentTo"}
xref: ICD10:O44.0 {source="DOID:1677"}
xref: ICD9:641.0 {source="DOID:1677"}
xref: SCTID:7792000 {source="MONDO:equivalentTo", source="DOID:1677"}
is_a: MONDO:0005918 {source="DOID:1677", source="linkedlifedata"} ! placenta praevia
property_value: closeMatch http://identifiers.org/snomedct/156099007
property_value: closeMatch http://identifiers.org/snomedct/198897009
property_value: closeMatch http://identifiers.org/snomedct/198898004
property_value: closeMatch http://identifiers.org/snomedct/198902005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156617
property_value: exactMatch DOID:1677
property_value: exactMatch http://identifiers.org/snomedct/7792000

[Term]
id: MONDO:0002078
name: heart septal defect
def: "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." [NCIT:P378]
synonym: "Cardiac septal defects" EXACT [DOID:1681]
synonym: "congenital septal defect" EXACT [NCIT:C84482]
synonym: "congenital septal defect of heart" EXACT [DOID:1681]
synonym: "holes in the heart" EXACT [NCIT:C84482]
synonym: "septal defect" EXACT [CSP2005:0725-0467, DOID:1681]
synonym: "septal defect NOS" RELATED EXCLUDE [DOID:1681, MTHICD9_2006:745.9]
xref: COHD:318549 {source="MONDO:equivalentTo"}
xref: DOID:1681 {source="MONDO:equivalentTo"}
xref: ICD10:Q21 {source="DOID:1681"}
xref: ICD10:Q21.9 {source="DOID:1681"}
xref: ICD9:745.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:745.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006343 {source="DOID:1681", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84482 {source="DOID:1681", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:253273004 {source="DOID:1681", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0018816 {source="DOID:1681", source="MONDO:equivalentTo", source="NCIT:C84482"}
is_a: MONDO:0005453 {source="DOID:1681", source="MESH:D006343", source="NCIT:C84482", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease
property_value: closeMatch http://identifiers.org/snomedct/156916001
property_value: closeMatch http://identifiers.org/snomedct/204290008
property_value: closeMatch http://identifiers.org/snomedct/287081002
property_value: closeMatch http://identifiers.org/snomedct/396351009
property_value: closeMatch http://identifiers.org/snomedct/59494005
property_value: closeMatch http://identifiers.org/snomedct/8352002
property_value: exactMatch DOID:1681
property_value: exactMatch http://identifiers.org/mesh/D006343
property_value: exactMatch http://identifiers.org/snomedct/253273004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018816
property_value: exactMatch NCIT:C84482

[Term]
id: MONDO:0002079
name: obsolete neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0019496

[Term]
id: MONDO:0002080
name: obsolete congenital ichthyosiform erythroderma (disease)
is_obsolete: true
replaced_by: MONDO:0019306

[Term]
id: MONDO:0002081
name: musculoskeletal system disease
def: "A disease involving the musculoskeletal system." [MONDO:DesignPattern]
synonym: "disease of musculoskeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of musculoskeletal system" EXACT []
synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of musculoskeletal system" RELATED [MONDO:patterns/location_top]
synonym: "musculoskeletal disease" EXACT [DOID:17]
synonym: "musculoskeletal disorder" RELATED []
synonym: "musculoskeletal system disease" EXACT [MONDO:patterns/location]
synonym: "musculoskeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "musculoskeletal system disorder" EXACT [NCIT:C107377]
xref: DOID:17 {source="MONDO:equivalentTo"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009140 {source="MONDO:equivalentTo", source="DOID:17", source="MONDO:ontobio"}
xref: NCIT:C107377 {source="MONDO:equivalentTo", source="DOID:17"}
xref: SCTID:928000 {source="MONDO:equivalentTo", source="DOID:17"}
xref: UMLS:C0026857 {source="MONDO:equivalentTo", source="DOID:17"}
is_a: MONDO:0021199 {source="DOID:17", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/156881000
property_value: closeMatch http://identifiers.org/snomedct/268047003
property_value: closeMatch http://identifiers.org/snomedct/268142006
property_value: closeMatch http://identifiers.org/snomedct/274149006
property_value: exactMatch DOID:17
property_value: exactMatch http://identifiers.org/mesh/D009140
property_value: exactMatch http://identifiers.org/snomedct/928000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026857
property_value: exactMatch NCIT:C107377

[Term]
id: MONDO:0002082
name: endocrine gland neoplasm
def: "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." [NCIT:C3010]
synonym: "endocrine gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocrine gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endocrine neoplasm" EXACT [CSP2005:2009-5861, DOID:170, NCIT:C3010]
synonym: "endocrine system neoplasm" EXACT [NCIT:C3010]
synonym: "endocrine system tumor" EXACT [NCIT:C3010]
synonym: "endocrine tumor" EXACT [DOID:170, NCIT:C3010]
synonym: "malignant endocrine tumor" NARROW [DOID:170]
synonym: "neoplasm of endocrine gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endocrine gland" EXACT [MONDO:patterns/neoplasm]
xref: EFO:0003769 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3010 {source="MONDO:equivalentTo"}
xref: SCTID:387922007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0002082", source="NCIT:C3010/inferred", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease)
is_a: MONDO:0005151 {source="MONDO:Redundant", source="NCIT:C3010", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocrine system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014132
property_value: exactMatch http://identifiers.org/snomedct/387922007
property_value: exactMatch NCIT:C3010

[Term]
id: MONDO:0002083
name: Richter syndrome
def: "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." [NCIT:P378]
synonym: "Richter syndrome" EXACT [DOID:1703, NCIT:C35424]
synonym: "Richter transformation" EXACT [NCIT:C35424]
synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C35424]
synonym: "Richter's transformation" EXACT [NCIT:C35424]
xref: DOID:1703 {source="MONDO:equivalentTo"}
xref: GARD:0007578 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:C91.1 {source="DOID:1703"}
xref: NCIT:C35424 {source="MONDO:kboom-pr-1.00/0.91/24.53", source="MONDO:equivalentTo", source="DOID:1703"}
xref: SCTID:277550009 {source="MONDO:equivalentTo", source="DOID:1703", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349631 {source="MONDO:equivalentTo", source="NCIT:C35424", source="DOID:1703"}
is_a: MONDO:0021058 {source="NCIT:C35424"} ! neoplastic syndrome
is_a: MONDO:0024882 ! secondary neoplasm
relationship: disease_arises_from_feature MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia
relationship: excluded_subClassOf MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia
property_value: exactMatch DOID:1703
property_value: exactMatch http://identifiers.org/snomedct/277550009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349631
property_value: exactMatch NCIT:C35424

[Term]
id: MONDO:0002084
name: obsolete neuroectodermal tumor
is_obsolete: true
replaced_by: MONDO:0005462

[Term]
id: MONDO:0002085
name: benign shuddering attacks
xref: DOID:1713 {source="MONDO:equivalentTo"}
xref: ICD10:G25.83 {source="MONDO:equivalentTo", source="DOID:1713"}
xref: ICD9:333.93 {source="MONDO:equivalentTo", source="i2s", source="DOID:1713"}
xref: SCTID:446995005 {source="MONDO:equivalentTo", source="DOID:1713", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0375200 {source="MONDO:equivalentTo", source="DOID:1713"}
is_a: MONDO:0005395 {source="DOID:1713", source="linkedlifedata"} ! movement disorder
property_value: exactMatch DOID:1713
property_value: exactMatch http://identifiers.org/snomedct/446995005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0375200

[Term]
id: MONDO:0002086
name: clear cell acanthoma
def: "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." [NCIT:P378]
synonym: "clear cell acanthoma (morphologic abnormality)" EXACT [DOID:172]
synonym: "Degos acanthoma" EXACT [NCIT:C97041]
synonym: "pale (clear cell) acanthoma" EXACT [DOID:172, NCIT:C4085]
xref: DOID:172 {source="MONDO:equivalentTo"}
xref: NCIT:C97041 {source="DOID:172", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:254670002 {source="DOID:172", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0333992 {source="NCIT:C97041", source="DOID:172", source="MONDO:equivalentTo"}
is_a: MONDO:0002093 {source="NCIT:C97041"} ! acanthoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/65540008
property_value: exactMatch DOID:172
property_value: exactMatch http://identifiers.org/snomedct/254670002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333992
property_value: exactMatch NCIT:C97041

[Term]
id: MONDO:0002087
name: peritoneum cancer
def: "A malignant neoplasm involving the peritoneum" [MONDO:DesignPattern]
synonym: "cancer of peritoneum" EXACT [DOID:1725, MONDO:patterns/cancer]
synonym: "cancer of the peritoneum" EXACT [NCIT:C3538]
synonym: "malignant neoplasm of peritoneum" EXACT [MONDO:patterns/cancer]
synonym: "malignant peritoneal neoplasm" EXACT [NCIT:C3538]
synonym: "malignant peritoneum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "peritoneal cancer" EXACT [NCIT:C3538]
synonym: "peritoneal cavity cancer" EXACT [NCIT:C3538]
synonym: "peritoneal neoplasm" RELATED [DOID:1725]
synonym: "peritoneum cancer" EXACT [MONDO:patterns/location]
xref: DOID:1725 {source="MONDO:equivalentTo"}
xref: ICD10:C48.1 {source="DOID:1725"}
xref: ICD9:158.8 {source="DOID:1725"}
xref: ICD9:158.9 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:159.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3538 {source="MONDO:equivalentTo"}
xref: SCTID:363492001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C0153467 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3538"}
is_a: MONDO:0004992 {source="DOID:1725", source="DOID:1725/inferred", source="MONDO:Redundant", source="MONDOLEX:0002087", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cancer
is_a: MONDO:0006901 {source="MONDO:Redundant", source="MONDOLEX:0002087", source="NCIT:C3538", source="linkedlifedata"} ! peritoneal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187808008
property_value: closeMatch http://identifiers.org/snomedct/187816004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153466
property_value: exactMatch DOID:1725
property_value: exactMatch http://identifiers.org/snomedct/363492001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153467
property_value: exactMatch NCIT:C3538

[Term]
id: MONDO:0002088
name: partial retinal vein occlusion
synonym: "partial occlusion of retinal vein" EXACT [DOID:1726]
synonym: "partial retinal vein occlusion" EXACT [DOID:1726, NCIT:C35341]
xref: DOID:1726 {source="MONDO:equivalentTo"}
xref: ICD10:H34.82 {source="DOID:1726"}
xref: NCIT:C35341 {source="MONDO:equivalentTo", source="DOID:1726", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:65593009 {source="MONDO:equivalentTo", source="DOID:1726", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271080 {source="NCIT:C35341", source="MONDO:equivalentTo", source="DOID:1726"}
is_a: MONDO:0006951 {source="DOID:1726", source="NCIT:C35341", source="linkedlifedata"} ! retinal vein occlusion
property_value: exactMatch DOID:1726
property_value: exactMatch http://identifiers.org/snomedct/65593009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271080
property_value: exactMatch NCIT:C35341

[Term]
id: MONDO:0002089
name: retinal vascular occlusion
def: "An occlusion of the retinal vasculature." [NCIT:P378]
synonym: "retinal vasc. occlusion" EXACT EXCLUDE [DOID:1729]
synonym: "retinal vascular occlusion" EXACT [DOID:1729, NCIT:C34980]
synonym: "retinal vascular occlusion, unspecified" EXACT [DOID:1729, ICD9CM_2006:362.30]
xref: COHD:440392 {source="MONDO:equivalentTo"}
xref: DOID:1729 {source="MONDO:equivalentTo"}
xref: ICD10:H34 {source="DOID:1729", source="MONDO:equivalentTo"}
xref: ICD10:H34.9 {source="DOID:1729"}
xref: ICD9:362.3 {source="DOID:1729"}
xref: ICD9:362.30 {source="DOID:1729", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34980 {source="DOID:1729", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:73757007 {source="DOID:1729", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035326 {source="DOID:1729", source="MONDO:equivalentTo", source="NCIT:C34980"}
is_a: MONDO:0002311 {source="NCIT:C34980", source="linkedlifedata"} ! retinal vascular disease
is_a: MONDO:0020672 ! vascular occlusion disorder
relationship: excluded_subClassOf MONDO:0005294 {source="DOID:1729"} ! peripheral vascular disease
property_value: closeMatch http://identifiers.org/snomedct/155111000
property_value: closeMatch http://identifiers.org/snomedct/193373007
property_value: closeMatch http://identifiers.org/snomedct/193380009
property_value: closeMatch http://identifiers.org/snomedct/267717005
property_value: exactMatch DOID:1729
property_value: exactMatch http://identifiers.org/snomedct/73757007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035326
property_value: exactMatch NCIT:C34980

[Term]
id: MONDO:0002090
name: eccrine sweat gland neoplasm
def: "A neoplasm involving a eccrine sweat gland." [MONDO:patterns/neoplasm]
synonym: "eccrine neoplasm" EXACT [NCIT:C6796]
synonym: "eccrine neoplasm of skin" EXACT [NCIT:C6796]
synonym: "eccrine neoplasm of the skin" EXACT [NCIT:C6796]
synonym: "eccrine skin neoplasm" EXACT [DOID:173, NCIT:C6796]
synonym: "eccrine skin tumor" EXACT [NCIT:C6796]
synonym: "eccrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eccrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "eccrine tumor" EXACT [DOID:173, NCIT:C6796]
synonym: "eccrine tumor of skin" EXACT [NCIT:C6796]
synonym: "eccrine tumor of the skin" EXACT [NCIT:C6796]
synonym: "neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm]
xref: DOID:173 {source="MONDO:equivalentTo"}
xref: NCIT:C6796 {source="MONDO:equivalentTo", source="DOID:173", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333371 {source="MONDO:equivalentTo", source="NCIT:C6796", source="DOID:173"}
is_a: MONDO:0002381 {source="DOID:173", source="MONDO:Redundant", source="NCIT:C6796"} ! sweat gland neoplasm
property_value: exactMatch DOID:173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333371
property_value: exactMatch NCIT:C6796

[Term]
id: MONDO:0002091
name: obsolete cryptosporidiosis
is_obsolete: true
replaced_by: MONDO:0015474

[Term]
id: MONDO:0002092
name: small intestine leiomyoma
def: "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of small bowel" EXACT [NCIT:C7725]
synonym: "leiomyoma of small intestine" EXACT [NCIT:C7725]
synonym: "leiomyoma of the small bowel" EXACT [NCIT:C7725]
synonym: "leiomyoma of the small intestine" EXACT [NCIT:C7725]
synonym: "leiomyoma, small bowel" EXACT [DOID:1738, NCIT:C7725]
synonym: "leiomyoma, small intestine" EXACT [NCIT:C7725]
synonym: "small bowel leiomyoma" EXACT [NCIT:C7725]
synonym: "small intestinal leiomyoma" EXACT [NCIT:C7725]
synonym: "small intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C7725]
xref: DOID:1738 {source="MONDO:equivalentTo"}
xref: NCIT:C7725 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1738"}
xref: SCTID:424279009 {source="MONDO:kboom-pr-0.78/0.38/0.82", source="MONDO:equivalentTo", source="DOID:1738"}
xref: UMLS:C0238197 {source="MONDO:equivalentTo", source="NCIT:C7725", source="DOID:1738"}
is_a: MONDO:0001572 {source="DOID:1738", source="MONDO:Redundant", source="NCIT:C7725", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0021501 {source="MONDO:Redundant", source="NCIT:C7725", source="linkedlifedata"} ! benign neoplasm of small intestine
property_value: exactMatch DOID:1738
property_value: exactMatch http://identifiers.org/snomedct/424279009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238197
property_value: exactMatch NCIT:C7725

[Term]
id: MONDO:0002093
name: acanthoma (disease)
def: "A benign skin neoplasm composed of epithelial cells." [NCIT:C7419]
synonym: "acanthoma" EXACT [MONDO:ambiguous, NCIT:C7419]
xref: DOID:174 {source="MONDO:equivalentTo"}
xref: GARD:0008604 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0025432 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D049309 {source="MONDO:equivalentTo", source="DOID:174"}
xref: NCIT:C7419 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:174"}
xref: UMLS:C0846967 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:174", source="NCIT:C7419"}
is_a: MONDO:0024666 {source="NCIT:C7419"} ! benign epithelial skin neoplasm
relationship: excluded_subClassOf MONDO:0002532 {source="DOID:174", source="MESH:D049309"} ! squamous cell neoplasm
property_value: exactMatch DOID:174
property_value: exactMatch http://identifiers.org/mesh/D049309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0846967
property_value: exactMatch NCIT:C7419

[Term]
id: MONDO:0002094
name: obsolete conjunctival squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006173

[Term]
id: MONDO:0002095
name: vascular cancer
def: "A malignant neoplasm arising from the blood vessels." [NCIT:C8538]
comment: Editor note: see also NCIT:C7390
synonym: "blood vessel neoplasm" BROAD [CSP2005:2007-0683, DOID:175, NCIT:C7387]
synonym: "blood vessel tumor" EXACT [DOID:175]
synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175]
synonym: "blood vessel tumors" EXACT [DOID:175]
synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175]
synonym: "blood vessel tumour disorder" BROAD [DOID:175]
synonym: "cancer of vasculature" EXACT [MONDO:patterns/cancer]
synonym: "Haemangiomatous tumour" BROAD [DOID:175]
synonym: "leiomyosarcoma of the renal vein" NARROW [DOID:175, NCIT:C5388]
synonym: "malignant blood vessel neoplasm" EXACT [NCIT:C8538]
synonym: "malignant blood vessel tumor" EXACT [NCIT:C8538]
synonym: "malignant great vessel tumor" EXACT EXCLUDE [DOID:175]
synonym: "malignant neoplasm of vasculature" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pulmonary artery" NARROW [DOID:175, NCIT:C5380]
synonym: "malignant tumor of pulmonary vein" NARROW [DOID:175, NCIT:C5383]
synonym: "malignant vascular neoplasm" EXACT [DOID:175]
synonym: "malignant vascular tumor" EXACT [DOID:175, NCIT:C7390]
synonym: "malignant vasculature neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of great vessel" RELATED [DOID:175]
synonym: "pulmonary artery cancer" EXACT [MONDO:patterns/location]
synonym: "pulmonary artery malignant neoplasm" RELATED [DOID:175]
synonym: "pulmonary vein malignant neoplasm" RELATED [DOID:175]
synonym: "renal vein leiomyosarcoma" RELATED [DOID:175]
synonym: "vascular tissue neoplasm" RELATED [DOID:175]
synonym: "vascular tumors" RELATED [DOID:175, NCIT:C7388]
synonym: "vasculature cancer" EXACT []
xref: DOID:175 {source="MONDO:equivalentTo"}
xref: MESH:D009383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8538 {source="MONDO:equivalentTo"}
is_a: MONDO:0002100 {source="DOID:175", source="MONDO:Redundant", source="NCIT:C8538/inferred"} ! cardiovascular cancer
is_a: MONDO:0021080 {source="MONDO:Entailed", source="NCIT:C8538"} ! blood vessel neoplasm
relationship: excluded_subClassOf MONDO:0000473 {source="DOID:175"} ! arterial disorder
property_value: closeMatch http://identifiers.org/mesh/D019043
property_value: closeMatch http://identifiers.org/snomedct/126737003
property_value: closeMatch http://identifiers.org/snomedct/93817006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282607
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346845
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1290407
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334616
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334617
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334630
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335753
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1458139
property_value: closeMatch NCIT:C5348
property_value: closeMatch NCIT:C5380
property_value: closeMatch NCIT:C5383
property_value: closeMatch NCIT:C5388
property_value: closeMatch NCIT:C7390
property_value: exactMatch DOID:175
property_value: exactMatch http://identifiers.org/mesh/D009383
property_value: exactMatch NCIT:C8538

[Term]
id: MONDO:0002096
name: malignant conjunctival melanoma
def: "A malignant melanoma within the conjunctiva of the eye." [NCIT:C4550]
synonym: "CM" RELATED [ONCOTREE:CM]
synonym: "conjunctiva melanoma" EXACT [NCIT:C4550]
synonym: "conjunctiva melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "conjunctival melanoma" EXACT [NCIT:C4550]
synonym: "malignant conjunctiva melanoma" EXACT [NCIT:C4550]
synonym: "malignant conjunctival melanoma" EXACT [NCIT:C4550]
synonym: "malignant melanoma of conjunctiva" EXACT [NCIT:C4550]
synonym: "malignant melanoma of the conjunctiva" EXACT [NCIT:C4550]
synonym: "melanoma (disease) of conjunctiva" EXACT []
synonym: "melanoma of conjunctiva" EXACT [NCIT:C4550]
synonym: "melanoma of the conjunctiva" EXACT [NCIT:C4550]
xref: DOID:1751 {source="MONDO:equivalentTo"}
xref: EFO:1000204 {source="MONDO:equivalentTo"}
xref: GARD:0010744 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C4550 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: ONCOTREE:CM {source="MONDO:equivalentTo"}
xref: SCTID:255004001 {source="DesignPattern", source="DOID:1751", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346360 {source="MEDGEN:kboom-pr98-c99", source="DOID:1751", source="NCIT:C4550", source="MONDO:equivalentTo"}
is_a: MONDO:0003454 {source="DOID:1751", source="MONDO:Redundant", source="NCIT:C4550", source="linkedlifedata"} ! conjunctival cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4550", source="ONCOTREE:CM"} ! ocular melanoma
property_value: exactMatch DOID:1751
property_value: exactMatch http://identifiers.org/snomedct/255004001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346360
property_value: exactMatch NCIT:C4550

[Term]
id: MONDO:0002097
name: obsolete ocular melanoma
is_obsolete: true
replaced_by: MONDO:0006325

[Term]
id: MONDO:0002098
name: facial nerve disease
def: "A disease involving the facial nerve." [MONDO:DesignPattern]
synonym: "disease of facial nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of facial nerve" EXACT []
synonym: "disorder of facial nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of facial nerve" RELATED [MONDO:patterns/location_top]
synonym: "disorder of seventh cranial nerve" RELATED []
synonym: "disorders of the seventh nerve" RELATED []
synonym: "disorders of the VIIth cranial nerve" RELATED []
synonym: "facial nerve disease" EXACT [MONDO:patterns/location]
synonym: "facial nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "facial nerve disorder" EXACT []
synonym: "facial neuropathy" RELATED []
xref: DOID:1756 {source="MONDO:equivalentTo"}
xref: ICD10:G51 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: ICD10:G51.9 {source="DOID:1756"}
xref: ICD9:351 {source="DOID:1756"}
xref: ICD9:351.9 {source="DOID:1756"}
xref: MESH:D005155 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: NCIT:C27594 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: SCTID:422426003 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: UMLS:C0015464 {source="MONDO:equivalentTo", source="DOID:1756"}
is_a: MONDO:0003569 {source="DOID:1756", source="MESH:D005155", source="MONDO:Redundant", source="NCIT:C27594", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:1756/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155069009
property_value: closeMatch http://identifiers.org/snomedct/155071009
property_value: closeMatch http://identifiers.org/snomedct/193097005
property_value: closeMatch http://identifiers.org/snomedct/230543003
property_value: closeMatch http://identifiers.org/snomedct/267704007
property_value: closeMatch http://identifiers.org/snomedct/90039006
property_value: exactMatch DOID:1756
property_value: exactMatch http://identifiers.org/mesh/D005155
property_value: exactMatch http://identifiers.org/snomedct/422426003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015464
property_value: exactMatch NCIT:C27594

[Term]
id: MONDO:0002099
name: Histoplasma capsulatum infectious disease
def: "An disease or disorder caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "American histoplasmosis" RELATED []
synonym: "classical histoplasmosis" RELATED []
synonym: "darling's disease" RELATED []
synonym: "Histoplasma capsulatum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum disease or disorder" EXACT []
synonym: "infection by Histoplasma capsulatum" EXACT []
synonym: "infection caused by Histoplasma capsulatum" RELATED []
synonym: "small form histoplasmosis" RELATED []
xref: DOID:1759 {source="MONDO:equivalentTo"}
xref: ICD10:B39.4 {source="DOID:1759"}
xref: ICD9:115.0 {source="DOID:1759"}
xref: ICD9:115.00 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:76255006 {source="MONDO:kboom-pr-1.00/0.75/6.94", source="MONDO:equivalentTo", source="DOID:1759"}
is_a: MONDO:0018312 {source="DOID:1759", source="MONDO:Redundant", source="linkedlifedata"} ! histoplasmosis
property_value: closeMatch http://identifiers.org/snomedct/187036002
property_value: closeMatch http://identifiers.org/snomedct/187037006
property_value: closeMatch http://identifiers.org/snomedct/187046000
property_value: exactMatch DOID:1759
property_value: exactMatch http://identifiers.org/snomedct/76255006

[Term]
id: MONDO:0002100
name: cardiovascular cancer
def: "A primary or metastatic malignant neoplasm involving the cardiovascular system." [NCIT:C114940]
synonym: "cancer of cardiovascular system" EXACT [MONDO:patterns/cancer]
synonym: "cardiovascular neoplasm" BROAD [CSP2005:2007-0683, DOID:176]
synonym: "cardiovascular system cancer" EXACT []
synonym: "cardiovascular tumors" EXACT [DOID:176]
synonym: "malignant cardiovascular neoplasm" EXACT [NCIT:C114940]
synonym: "malignant cardiovascular system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cardiovascular system" EXACT [MONDO:patterns/cancer]
xref: DOID:176 {source="MONDO:equivalentTo"}
xref: NCIT:C114940 {source="MONDO:equivalentTo"}
xref: UMLS:C0497243 {source="MONDO:equivalentTo", source="DOID:176"}
xref: UMLS:C3898472 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDO:Redundant", source="MONDOLEX:0002100"} ! cancer
is_a: MONDO:0024757 {source="MONDO:Redundant", source="MONDOLEX:0002100", source="NCIT:C114940"} ! cardiovascular neoplasm
property_value: exactMatch DOID:176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0497243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898472
property_value: exactMatch NCIT:C114940

[Term]
id: MONDO:0002101
name: facial nerve neoplasm
def: "A neoplasm involving a facial nerve." [MONDO:patterns/neoplasm]
synonym: "facial nerve neoplasm" EXACT [NCIT:C5827]
synonym: "facial nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "facial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "facial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5827]
synonym: "facial nerve tumors" EXACT [NCIT:C5827]
synonym: "neoplasm of Facial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of facial nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of the Facial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of the seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve neoplasm" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve tumor" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve tumors" EXACT [NCIT:C5827]
synonym: "tumor of Facial nerve" EXACT [DOID:1760, NCIT:C5827]
synonym: "tumor of facial nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "tumor of the Facial nerve" EXACT [NCIT:C5827]
synonym: "tumor of the seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "VIIth cranial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "VIIth cranial nerve tumors" EXACT [NCIT:C5827]
xref: DOID:1760 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5827 {source="DOID:1760", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126973004 {source="DOID:1760", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263899 {source="NCIT:C5827", source="DOID:1760", source="MONDO:equivalentTo"}
is_a: MONDO:0002098 ! facial nerve disease
is_a: MONDO:0002633 {source="DOID:1760", source="MONDO:Redundant", source="NCIT:C5827", source="linkedlifedata"} ! cranial nerve neoplasm
property_value: exactMatch DOID:1760
property_value: exactMatch http://identifiers.org/snomedct/126973004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263899
property_value: exactMatch NCIT:C5827

[Term]
id: MONDO:0002102
name: cheilitis
def: "An inflammatory process affecting the lip." [NCIT:C79545]
synonym: "inflammation of lip" EXACT []
synonym: "lip inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1762 {source="MONDO:equivalentTo"}
xref: HP:0100825 {source="DOID:1762", source="MONDO:otherHierarchy"}
xref: ICD10:K13.0 {source="DOID:1762"}
xref: MESH:D002613 {source="DOID:1762", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C79545 {source="DOID:1762", source="MONDO:equivalentTo"}
xref: SCTID:7847004 {source="DOID:1762", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0007971 {source="MEDGEN:kboom-pr98-c99", source="DOID:1762", source="MONDO:equivalentTo", source="NCIT:C79545"}
is_a: MONDO:0004748 {source="DOID:1762", source="MESH:D002613", source="MONDO:Redundant", source="NCIT:C79545/inferred", source="linkedlifedata"} ! lip disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155664000
property_value: closeMatch http://identifiers.org/snomedct/196557006
property_value: closeMatch http://identifiers.org/snomedct/266495008
property_value: exactMatch DOID:1762
property_value: exactMatch http://identifiers.org/mesh/D002613
property_value: exactMatch http://identifiers.org/snomedct/7847004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007971
property_value: exactMatch NCIT:C79545

[Term]
id: MONDO:0002103
name: factitious disorder
def: "A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors." [NCIT:C92198]
synonym: "Munchausen syndrome" EXACT [DOID:1766]
xref: COHD:440984 {source="MONDO:equivalentTo"}
xref: DOID:1766 {source="MONDO:equivalentTo"}
xref: ICD10:F68.11 {source="DOID:1766"}
xref: ICD9:300.16 {source="DOID:1766"}
xref: ICD9:300.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009110 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92198 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:50705009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.86"}
is_a: MONDO:0002025 {source="DOID:1766", source="MESH:D009110/inferred", source="NCIT:C92198"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/31122002
property_value: closeMatch http://identifiers.org/snomedct/430751001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015480
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015481
property_value: exactMatch DOID:1766
property_value: exactMatch http://identifiers.org/mesh/D009110
property_value: exactMatch http://identifiers.org/snomedct/50705009
property_value: exactMatch NCIT:C92198

[Term]
id: MONDO:0002104
name: conversion disorder
def: "Conversion disorder is a disorder in which a person experiences blindness , paralysis , or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy , hypnosis , and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." [https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder]
subset: gard_rare {source="GARD:0006191"}
synonym: "conversion hysteria or reaction" EXACT [DOID:1768, MTHICD9_2006:300.11]
synonym: "conversion hysterical neurosis" EXACT [DOID:1768, MTH:NOCODE]
synonym: "FND" RELATED [GARD:0006191]
synonym: "functional movement disorder" RELATED [GARD:0006191]
synonym: "functional neurological disorder" RELATED [GARD:0006191]
synonym: "hysterical neurosis, conversion type" EXACT [DOID:1768]
xref: DOID:1768 {source="MONDO:equivalentTo"}
xref: GARD:0006191 {source="MONDO:equivalentTo"}
xref: ICD10:F44 {source="DOID:1768"}
xref: ICD9:300.11 {source="DOID:1768"}
xref: MESH:D003291 {source="MONDO:equivalentTo", source="DOID:1768", source="MONDO:ontobio"}
is_a: MONDO:0003117 {source="DOID:1768", source="MESH:D003291"} ! somatoform disorder
property_value: closeMatch http://identifiers.org/snomedct/20734000
property_value: closeMatch http://identifiers.org/snomedct/44376007
property_value: closeMatch http://identifiers.org/snomedct/89239005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009946
property_value: exactMatch DOID:1768
property_value: exactMatch http://identifiers.org/mesh/D003291
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder xsd:anyURI {source="GARD:0006191"}

[Term]
id: MONDO:0002105
name: toxic megacolon
def: "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." [MESH:D008532]
xref: DOID:1770 {source="MONDO:equivalentTo"}
xref: ICD10:K59.3 {source="DOID:1770"}
xref: ICD10:K59.31 {source="MONDO:equivalentTo"}
xref: ICD9:564.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008532 {source="DOID:1770", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:28536002 {source="DOID:1770", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025162 {source="DOID:1770", source="MONDO:equivalentTo"}
is_a: MONDO:0001273 {source="DOID:1770", source="MESH:D008532"} ! megacolon
property_value: exactMatch DOID:1770
property_value: exactMatch http://identifiers.org/mesh/D008532
property_value: exactMatch http://identifiers.org/snomedct/28536002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025162

[Term]
id: MONDO:0002106
name: labyrinthine unilateral reactive loss
synonym: "loss of labyrinthine reactivity, unilateral" EXACT [DOID:1776, ICD9CM_2006:386.55]
synonym: "unilateral loss of labyrinthine reactivity" EXACT [DOID:1776]
xref: DOID:1776 {source="MONDO:equivalentTo"}
xref: ICD9:386.55 {source="DOID:1776"}
xref: UMLS:C0155519 {source="MONDO:equivalentTo", source="DOID:1776"}
is_a: MONDO:0003571 {source="DOID:1776"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/194376005
property_value: closeMatch http://identifiers.org/snomedct/43000004
property_value: exactMatch DOID:1776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155519

[Term]
id: MONDO:0002107
name: unilateral hyperactive labyrinth
synonym: "hyperactive labyrinth, unilateral" EXACT [DOID:1777, ICD9CM_2006:386.51]
synonym: "hyperactive unilateral labyrinthine dysfunction" EXACT [DOID:1777]
xref: DOID:1777 {source="MONDO:equivalentTo"}
xref: ICD9:386.51 {source="DOID:1777"}
xref: UMLS:C0155515 {source="MONDO:equivalentTo", source="DOID:1777"}
is_a: MONDO:0003571 {source="DOID:1777"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/111542008
property_value: closeMatch http://identifiers.org/snomedct/194372007
property_value: exactMatch DOID:1777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155515

[Term]
id: MONDO:0002108
name: thyroid cancer
def: "A malignant neoplasm involving the thyroid gland" [MONDO:DesignPattern]
synonym: "cancer of thyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the thyroid" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of the thyroid gland" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of thyroid" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of thyroid gland" EXACT [DOID:1781, ICD9CM_2006:193, MONDO:patterns/cancer, NCIT:C7510]
synonym: "malignant thyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7510]
synonym: "malignant thyroid gland tumor" EXACT [NCIT:C7510]
synonym: "malignant thyroid neoplasm" EXACT [NCIT:C7510]
synonym: "malignant thyroid tumor" EXACT [NCIT:C7510]
synonym: "malignant tumor of the thyroid" EXACT [NCIT:C7510]
synonym: "malignant tumor of the thyroid gland" EXACT [NCIT:C7510]
synonym: "malignant tumor of thyroid" EXACT [NCIT:C7510]
synonym: "malignant tumor of thyroid gland" EXACT [NCIT:C7510]
synonym: "malignant tumour of thyroid gland" EXACT [DOID:1781]
synonym: "neoplasm of thyroid gland" EXACT [DOID:1781]
synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location]
synonym: "thyroid gland neoplasm" EXACT [DOID:1781]
synonym: "thyroid neoplasm" EXACT EXCLUDE [DOID:1781]
xref: COHD:4178976 {source="MONDO:equivalentTo"}
xref: DOID:1781 {source="MONDO:equivalentTo"}
xref: ICD10:C73 {source="DOID:1781"}
xref: ICD9:193 {source="DOID:1781", source="MONDO:equivalentTo", source="i2s"}
xref: KEGG:05216 {source="DOID:1781", source="MONDO:equivalentTo"}
xref: NCIT:C7510 {source="DOID:1781", source="MONDO:equivalentTo"}
xref: SCTID:363478007 {source="MONDO:kboom-pr-0.91/0.76/0.62", source="DOID:1781", source="MONDO:equivalentTo"}
xref: UMLS:CN221577 {source="MONDO:equivalentTo"}
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C7510", source="linkedlifedata"} ! thyroid tumor
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D013964
property_value: closeMatch http://identifiers.org/snomedct/154554008
property_value: closeMatch http://identifiers.org/snomedct/94098005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007115
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040136
property_value: exactMatch DOID:1781
property_value: exactMatch http://identifiers.org/snomedct/363478007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221577
property_value: exactMatch NCIT:C7510

[Term]
id: MONDO:0002109
name: pituitary cancer
def: "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." [NCIT:C4769]
synonym: "cancer of pituitary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pituitary" EXACT [NCIT:C4769]
synonym: "malignant neoplasm of pituitary gland" EXACT [MONDO:patterns/cancer, NCIT:C4769]
synonym: "malignant neoplasm of the pituitary" EXACT [NCIT:C4769]
synonym: "malignant neoplasm of the pituitary gland" EXACT [NCIT:C4769]
synonym: "malignant pituitary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4769]
synonym: "malignant pituitary gland tumor" EXACT [NCIT:C4769]
synonym: "malignant pituitary neoplasm" EXACT [DOID:1785, NCIT:C4769]
synonym: "malignant pituitary tumor" EXACT [NCIT:C4769]
synonym: "malignant tumor of pituitary" EXACT [NCIT:C4769]
synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769]
synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769]
synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769]
synonym: "neoplasm of pituitary gland" EXACT EXCLUDE [DOID:1785]
synonym: "pituitary cancer" EXACT []
synonym: "pituitary gland cancer" EXACT [DOID:1785]
synonym: "pituitary gland neoplasm" BROAD [DOID:1785, NCIT:C3330]
synonym: "pituitary neoplasm" BROAD [CSP2005:2006-7421, DOID:1785]
synonym: "pituitary neoplasms, malignant" EXACT [NCIT:C4769]
synonym: "pituitary tumor, malignant" EXACT [NCIT:C4769]
xref: DOID:1785 {source="MONDO:equivalentTo"}
xref: EFO:0005578 {source="MONDO:equivalentTo"}
xref: GARD:0009371 {source="MONDO:equivalentTo"}
xref: ICD10:C75.1 {source="DOID:1785"}
xref: NCIT:C4769 {source="MONDO:equivalentTo", source="DOID:1785"}
xref: SCTID:363482009 {source="MONDO:equivalentTo", source="DOID:1785"}
xref: UMLS:C0496842 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1785", source="NCIT:C4769"}
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0003766 ! thalamic cancer
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4769", source="linkedlifedata"} ! pituitary tumor
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D010911
property_value: closeMatch http://identifiers.org/snomedct/93964007
property_value: exactMatch DOID:1785
property_value: exactMatch http://identifiers.org/snomedct/363482009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496842
property_value: exactMatch NCIT:C4769

[Term]
id: MONDO:0002110
name: adrenal rest tumor
def: "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." [NCIT:P378]
synonym: "adrenal rest neoplasm" EXACT [DOID:1786, NCIT:C2860]
synonym: "adrenal rest tumor" EXACT [NCIT:C2860]
xref: DOID:1786 {source="MONDO:equivalentTo"}
xref: EFO:1000798 {source="MONDO:equivalentTo"}
xref: ICDO:8671/0 {source="NCIT:C2860"}
xref: MESH:D000314 {source="DOID:1786", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2860 {source="DOID:1786", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: UMLS:C0001630 {source="DOID:1786", source="MONDO:equivalentTo", source="NCIT:C2860"}
is_a: MONDO:0000383 {source="NCIT:C2860"} ! benign reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:1786"} ! benign endocrine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/54292009
property_value: exactMatch DOID:1786
property_value: exactMatch http://identifiers.org/mesh/D000314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001630
property_value: exactMatch NCIT:C2860

[Term]
id: MONDO:0002111
name: obsolete peritoneal mesothelioma
is_obsolete: true
replaced_by: MONDO:0006362

[Term]
id: MONDO:0002112
name: benign peritoneal mesothelioma
def: "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." [NCIT:C7354]
synonym: "mesothelioma of peritoneum" BROAD [DOID:1789, NCIT:C7633]
synonym: "peritoneal adenomatoid tumor" EXACT [NCIT:C7354]
synonym: "peritoneum benign mesothelioma" EXACT [MONDO:patterns/location]
xref: DOID:1789 {source="MONDO:equivalentTo"}
xref: NCIT:C7354 {source="MONDO:equivalentTo"}
is_a: MONDO:0000650 ! peritoneal benign neoplasm
is_a: MONDO:0002373 ! benign mesothelioma
is_a: MONDO:0006362 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0002112", source="NCIT:C7354"} ! peritoneal mesothelioma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377610
property_value: exactMatch DOID:1789
property_value: exactMatch NCIT:C7354

[Term]
id: MONDO:0002113
name: peritoneal carcinoma
def: "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." [NCIT:P378]
synonym: "carcinoma of peritoneum" EXACT [MONDO:patterns/carcinoma]
synonym: "peritoneum carcinoma" EXACT [MONDO:patterns/location]
synonym: "primary peritoneal carcinoma" NARROW [DOID:1791]
xref: DOID:1791 {source="MONDO:equivalentTo"}
xref: SCTID:447781009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002087 ! peritoneum cancer
is_a: MONDO:0004993 ! carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514428
property_value: exactMatch DOID:1791
property_value: exactMatch http://identifiers.org/snomedct/447781009

[Term]
id: MONDO:0002114
name: pancreas lymphoma
def: "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas." [NCIT:C5714]
synonym: "lymphoma of pancreas" EXACT [DOID:1792, NCIT:C5714]
synonym: "lymphoma of the pancreas" EXACT [NCIT:C5714]
synonym: "pancreas lymphoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic lymphoma" EXACT [NCIT:C5714]
xref: DOID:1792 {source="MONDO:equivalentTo"}
xref: NCIT:C5714 {source="DOID:1792", source="MONDO:equivalentTo"}
xref: UMLS:C1335307 {source="DOID:1792", source="MONDO:equivalentTo", source="NCIT:C5714"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5714"} ! gastrointestinal lymphoma
is_a: MONDO:0009831 {source="DOID:1792", source="MONDO:Redundant", source="NCIT:C5714"} ! malignant pancreatic neoplasm
property_value: exactMatch DOID:1792
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335307
property_value: exactMatch NCIT:C5714

[Term]
id: MONDO:0002115
name: obsolete pancreatic cancer
is_obsolete: true
replaced_by: MONDO:0009831

[Term]
id: MONDO:0002116
name: malignant exocrine pancreas neoplasm
def: "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C7430]
synonym: "cancer of exocrine pancreas" EXACT [MONDO:patterns/cancer]
synonym: "exocrine pancreas cancer" EXACT [MONDO:patterns/location]
synonym: "malignant exocrine pancreas neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7430]
synonym: "malignant exocrine pancreas tumor" EXACT [NCIT:C7430]
synonym: "malignant neoplasm of exocrine pancreas" EXACT [MONDO:patterns/cancer, NCIT:C7430]
synonym: "malignant neoplasm of the exocrine pancreas" EXACT [DOID:1795, NCIT:C7430]
synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430]
synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430]
synonym: "pancreatic exocrine tumor" BROAD [DOID:1795]
synonym: "tumor of exocrine pancreas" RELATED [DOID:1795]
xref: DOID:1795 {source="MONDO:equivalentTo"}
xref: NCIT:C7430 {source="MONDO:equivalentTo"}
xref: SCTID:255088001 {source="DOID:1795", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:C0346648 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7430", source="DOID:1795", source="MONDO:equivalentTo"}
is_a: MONDO:0009831 {source="DOID:1795", source="MONDO:Redundant", source="MONDOLEX:0002116", source="NCIT:C7430"} ! malignant pancreatic neoplasm
is_a: MONDO:0021076 {source="MONDO:Redundant", source="MONDOLEX:0002116", source="NCIT:C7430", source="linkedlifedata"} ! pancreatic exocrine neoplasm
property_value: exactMatch DOID:1795
property_value: exactMatch http://identifiers.org/snomedct/255088001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346648
property_value: exactMatch NCIT:C7430

[Term]
id: MONDO:0002117
name: pancreas sarcoma
def: "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." [NCIT:C5715]
synonym: "pancreas sarcoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic sarcoma" EXACT [NCIT:C5715]
synonym: "sarcoma of pancreas" EXACT [DOID:1796, MONDO:patterns/sarcoma, NCIT:C5715]
synonym: "sarcoma of the pancreas" EXACT [NCIT:C5715]
xref: DOID:1796 {source="MONDO:equivalentTo"}
xref: NCIT:C5715 {source="MONDO:equivalentTo", source="DOID:1796"}
xref: UMLS:C1096346 {source="MONDO:equivalentTo", source="DOID:1796", source="NCIT:C5715"}
is_a: MONDO:0009831 {source="DOID:1796", source="MONDO:Redundant", source="NCIT:C5715"} ! malignant pancreatic neoplasm
is_a: MONDO:0018078 {source="NCIT:C5715"} ! soft tissue sarcoma
property_value: exactMatch DOID:1796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096346
property_value: exactMatch NCIT:C5715

[Term]
id: MONDO:0002118
name: urinary system disease
def: "A disease involving the renal system." [MONDO:DesignPattern]
synonym: "disease of renal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal system" EXACT []
synonym: "disease, urinary tract" RELATED [MESH:D014570]
synonym: "disease, urologic" RELATED [MESH:D014570]
synonym: "disease, urological" RELATED [MESH:D014570]
synonym: "diseases, urinary tract" RELATED [MESH:D014570]
synonym: "diseases, urologic" RELATED [MESH:D014570]
synonym: "diseases, urological" RELATED [MESH:D014570]
synonym: "disorder of renal system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of renal system" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the urinary system" EXACT []
synonym: "disorder of urinary system" EXACT [NCIT:C3430]
synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18, NCIT:C27599]
synonym: "renal disease" EXACT EXCLUDE [DOID:18]
synonym: "renal system disease" EXACT [MONDO:patterns/location]
synonym: "renal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urinary disease" RELATED [DOID:18]
synonym: "urinary system disease" EXACT []
synonym: "urinary system disorder" RELATED []
synonym: "urinary tract disease" EXACT [DOID:18, MESH:D014570]
synonym: "urinary tract diseases" RELATED [MESH:D014570]
synonym: "urinary tract disorder" EXACT [NCIT:C3430]
synonym: "urologic disease" RELATED [MESH:D014570]
synonym: "urologic disorder" EXACT [NCIT:C3430]
synonym: "urological disease" RELATED [MESH:D014570]
synonym: "urological diseases" RELATED [MESH:D014570]
synonym: "urological disorder" RELATED []
synonym: "urological disorders" EXACT [NCIT:C3430]
xref: DOID:18 {source="MONDO:equivalentTo"}
xref: ICD9:V47.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014570 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3430 {source="MONDO:equivalentTo"}
xref: SCTID:128606002 {source="MONDO:equivalentTo"}
xref: UMLS:C1335051 {source="MONDO:equivalentTo", source="DOID:18"}
is_a: MONDO:0021199 {source="DOID:18", source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease by anatomical system
property_value: closeMatch NCIT:C27599
property_value: exactMatch DOID:18
property_value: exactMatch http://identifiers.org/mesh/D014570
property_value: exactMatch http://identifiers.org/snomedct/128606002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335051
property_value: exactMatch NCIT:C3430

[Term]
id: MONDO:0002119
name: ossifying fibroma (disease)
def: "A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated." [NCIT:P378]
synonym: "Cementifying fibroma" EXACT [NCIT:C8422]
synonym: "cemento-ossifying fibroma" EXACT [NCIT:C8422]
synonym: "fibro-osteoma" EXACT [DOID:180]
synonym: "fibroma, ossifying, benign" EXACT [NCIT:C8422]
synonym: "juvenile ossifying fibroma" RELATED [GARD:0012792]
synonym: "ossifying fibroma" EXACT [MONDO:ambiguous]
synonym: "peripheral ossifying fibroma" RELATED [DOID:180]
xref: DOID:180 {source="MONDO:equivalentTo"}
xref: EFO:0007412 {source="MONDO:equivalentTo"}
xref: GARD:0012792 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0030426 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9262/0 {source="NCIT:C8422"}
xref: ICDO:9274/0 {source="NCIT:C8422"}
xref: MESH:D018214 {source="DOID:180", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8422 {source="DOID:180", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.85"}
xref: UMLS:C0206640 {source="MEDGEN:kboom-pr98-c99", source="DOID:180", source="NCIT:C8422", source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:180"} ! bone benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189896007
property_value: closeMatch http://identifiers.org/snomedct/25603007
property_value: closeMatch http://identifiers.org/snomedct/302862001
property_value: closeMatch http://identifiers.org/snomedct/302863006
property_value: closeMatch http://identifiers.org/snomedct/80699009
property_value: exactMatch DOID:180
property_value: exactMatch http://identifiers.org/mesh/D018214
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206640
property_value: exactMatch NCIT:C8422

[Term]
id: MONDO:0002120
name: neuroendocrine carcinoma
def: "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." [NCIT:C3773]
synonym: "NEC" EXACT [NCIT:C3773]
synonym: "neuroendocrine cancer" EXACT [NCIT:C3773]
synonym: "neuroendocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3773]
synonym: "neuroendocrine carcinoma" EXACT [NCIT:C3773]
xref: DOID:1800 {source="MONDO:equivalentTo"}
xref: ICDO:8246/3 {source="NCIT:C3773"}
xref: MESH:D018278 {source="MONDO:equivalentTo", source="DOID:1800", source="MONDO:ontobio"}
xref: NCIT:C3773 {source="MONDO:equivalentTo", source="DOID:1800", source="exact-label-match"}
xref: SCTID:253000007 {source="MONDO:kboom-pr-0.96/0.91/0.11", source="MONDO:equivalentTo", source="DOID:1800"}
xref: UMLS:C0206695 {source="MONDO:equivalentTo", source="NCIT:C3773", source="DOID:1800"}
is_a: MONDO:0004993 {source="DOID:1800", source="MESH:D018278/inferred", source="MONDO:Redundant", source="MONDOLEX:0002120", source="NCIT:C3773"} ! carcinoma
is_a: MONDO:0019496 {source="MESH:D018278", source="MONDO:Redundant", source="NCIT:C3773", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neuroendocrine neoplasm
is_a: MONDO:0021069 {source="MONDO:Redundant", source="MONDOLEX:0002120", source="NCIT:C3773"} ! malignant endocrine neoplasm
intersection_of: MONDO:0004993 {source="NCIT:C3773"} ! carcinoma
intersection_of: MONDO:0019496 {source="NCIT:C3773"} ! neuroendocrine neoplasm
intersection_of: MONDO:0021069 {source="NCIT:C3773"} ! malignant endocrine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/55937004
property_value: exactMatch DOID:1800
property_value: exactMatch http://identifiers.org/mesh/D018278
property_value: exactMatch http://identifiers.org/snomedct/253000007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206695
property_value: exactMatch NCIT:C3773

[Term]
id: MONDO:0002121
name: mononeuritis simplex
def: "neuritis of a single nerve." [MONDO:cjm]
synonym: "mononeuritis" EXACT []
xref: COHD:372309 {source="MONDO:equivalentTo"}
xref: DOID:1802 {source="MONDO:equivalentTo"}
xref: ICD9:355.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1802"}
xref: SCTID:32595002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1802"}
xref: UMLS:C0235880 {source="MONDO:equivalentTo", source="DOID:1802"}
is_a: MONDO:0001397 {source="DOID:1802", source="linkedlifedata"} ! mononeuropathy
is_a: MONDO:0002122 {source="DOID:1802"} ! neuritis
property_value: closeMatch http://identifiers.org/snomedct/193155002
property_value: closeMatch http://identifiers.org/snomedct/267600005
property_value: exactMatch DOID:1802
property_value: exactMatch http://identifiers.org/snomedct/32595002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235880

[Term]
id: MONDO:0002122
name: neuritis
def: "A neuropathy arising from inflammation of one or more nerves." [MONDO:cjm]
synonym: "nerve inflammation" EXACT []
synonym: "peripheral neuritis" EXACT [DOID:1803]
xref: COHD:4027396 {source="MONDO:equivalentTo"}
xref: DOID:1803 {source="MONDO:equivalentTo"}
xref: ICD9:729.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009443 {source="MONDO:equivalentTo", source="DOID:1803"}
xref: NCIT:C116381 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1803"}
xref: SCTID:128192007 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo", source="DOID:1803"}
xref: SCTID:84299009 {source="MONDO:equivalentTo", source="DOID:1803"}
xref: UMLS:C0027813 {source="MONDO:equivalentTo", source="DOID:1803", source="NCIT:C116381"}
is_a: MONDO:0005244 {source="DOID:1803", source="MONDO:Redundant", source="NCIT:C116381", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/123254001
property_value: closeMatch http://identifiers.org/snomedct/203116001
property_value: closeMatch http://identifiers.org/snomedct/247378004
property_value: exactMatch DOID:1803
property_value: exactMatch http://identifiers.org/mesh/D009443
property_value: exactMatch http://identifiers.org/snomedct/128192007
property_value: exactMatch http://identifiers.org/snomedct/84299009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027813
property_value: exactMatch NCIT:C116381

[Term]
id: MONDO:0002123
name: calcinosis
def: "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." [NCIT:P378]
synonym: "calcification" EXACT [NCIT:C3672]
synonym: "calcium deposit(s)" EXACT [NCIT:C3672]
synonym: "deposit(s), calcium" EXACT [NCIT:C3672]
synonym: "macrocalcification" EXACT [NCIT:C3672]
synonym: "pathologic calcification" EXACT [CSP2005:0531-6510, DOID:182]
synonym: "pathologically calcified structure" EXACT [DOID:182]
xref: DOID:182 {source="MONDO:equivalentTo"}
xref: EFO:0003837 {source="MONDO:equivalentTo"}
xref: HP:0003761 {source="MONDO:otherHierarchy"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002114 {source="MONDO:equivalentTo", source="DOID:182", source="MONDO:ontobio"}
xref: NCIT:C3672 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:182"}
xref: SCTID:6595006 {source="MONDO:equivalentTo", source="DOID:182", source="MONDO:kboom-pr-1.00/0.84/15.07"}
is_a: MONDO:0005557 {source="DOID:182", source="MESH:D002114"} ! calcium metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/190863003
property_value: closeMatch http://identifiers.org/snomedct/237881004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006663
property_value: exactMatch DOID:182
property_value: exactMatch http://identifiers.org/mesh/D002114
property_value: exactMatch http://identifiers.org/snomedct/6595006
property_value: exactMatch NCIT:C3672

[Term]
id: MONDO:0002124
name: secondary lacrimal atrophy
synonym: "consecutive atrophy of lacrimal gland" RELATED []
synonym: "secondary atrophy of lacrimal gland" RELATED []
synonym: "secondary lacrimal atrophy" EXACT []
xref: COHD:376980 {source="MONDO:equivalentTo"}
xref: DOID:1822 {source="MONDO:equivalentTo"}
xref: ICD10:H04.15 {source="DOID:1822"}
xref: ICD9:375.14 {source="MONDO:equivalentTo", source="i2s", source="DOID:1822"}
xref: SCTID:75068001 {source="MONDO:equivalentTo", source="DOID:1822", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0024624 {source="linkedlifedata"} ! atrophy of lacrimal gland
property_value: closeMatch http://identifiers.org/snomedct/193979004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339121
property_value: exactMatch DOID:1822
property_value: exactMatch http://identifiers.org/snomedct/75068001

[Term]
id: MONDO:0002125
name: status epilepticus
def: "A life-threatening situation in which the brain is in a continuous state of seizure." [NCIT:P378]
subset: gard_rare {source="GARD:0010191"}
synonym: "GCSE" RELATED [GARD:0010191]
synonym: "generalized convulsive status epilepticus" RELATED [GARD:0010191]
synonym: "grand mal status" EXACT [DOID:1824]
synonym: "SE" RELATED [GARD:0010191]
xref: DOID:1824 {source="MONDO:equivalentTo"}
xref: EFO:0008526 {source="MONDO:equivalentTo"}
xref: GARD:0010191 {source="MONDO:equivalentTo"}
xref: ICD10:G41 {source="MONDO:equivalentTo"}
xref: MESH:D013226 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1824"}
xref: NCIT:C85079 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1824"}
xref: SCTID:230456007 {source="MONDO:equivalentTo", source="DOID:1824", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038220 {source="MONDO:equivalentTo", source="NCIT:C85079", source="DOID:1824"}
is_a: MONDO:0005027 {source="DOID:1824", source="EFO:0008526", source="MESH:D013226", source="linkedlifedata"} ! epilepsy
property_value: closeMatch http://identifiers.org/snomedct/13973009
property_value: closeMatch http://identifiers.org/snomedct/155039002
property_value: closeMatch http://identifiers.org/snomedct/192998006
property_value: closeMatch http://identifiers.org/snomedct/193019007
property_value: closeMatch http://identifiers.org/snomedct/194499008
property_value: exactMatch DOID:1824
property_value: exactMatch http://identifiers.org/mesh/D013226
property_value: exactMatch http://identifiers.org/snomedct/230456007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038220
property_value: exactMatch NCIT:C85079
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus xsd:anyURI {source="GARD:0010191"}

[Term]
id: MONDO:0002126
name: obsolete childhood absence epilepsy
is_obsolete: true
replaced_by: MONDO:0010826

[Term]
id: MONDO:0002127
name: urethral stricture (disease)
def: "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." [MESH:D014525]
synonym: "urethral stricture" EXACT [MONDO:ambiguous]
xref: COHD:195590 {source="MONDO:equivalentTo"}
xref: DOID:1829 {source="MONDO:equivalentTo"}
xref: HP:0012227 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:598.8 {source="DOID:1829", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:598.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014525 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:76618002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0041974 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001556 {source="DOID:1829", source="MESH:D014525", source="linkedlifedata", source="linkedlifedata/inferred"} ! urethral obstruction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029752
property_value: exactMatch DOID:1829
property_value: exactMatch http://identifiers.org/mesh/D014525
property_value: exactMatch http://identifiers.org/snomedct/76618002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041974

[Term]
id: MONDO:0002128
name: mononeuritis multiplex
def: "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." [NCIT:C70938]
subset: gard_rare {source="GARD:0007056"}
synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD9CM_2006:354.5, NCIT:C70938]
xref: COHD:376395 {source="MONDO:equivalentTo"}
xref: DOID:1835 {source="MONDO:equivalentTo"}
xref: GARD:0007056 {source="MONDO:equivalentTo"}
xref: ICD10:G58.7 {source="MONDO:equivalentTo", source="DOID:1835"}
xref: ICD9:354.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:1835"}
xref: NCIT:C70938 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1835"}
xref: SCTID:30292005 {source="MONDO:equivalentTo", source="DOID:1835", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0151295 {source="MONDO:equivalentTo", source="NCIT:C70938", source="DOID:1835"}
is_a: MONDO:0003607 {source="DOID:1835"} ! neuritis of upper limb
property_value: exactMatch DOID:1835
property_value: exactMatch http://identifiers.org/snomedct/30292005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151295
property_value: exactMatch NCIT:C70938
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex xsd:anyURI {source="GARD:0007056"}

[Term]
id: MONDO:0002129
name: bone cancer
def: "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." [NCIT:C4016]
synonym: "bone cancer" EXACT [NCIT:C4016]
synonym: "bone cancer, NOS" RELATED EXCLUDE [NCIT:C4016]
synonym: "bone neoplasm" EXACT [CSP2005:2019-1041, DOID:184]
synonym: "bone tumour" EXACT [DOID:184]
synonym: "CA - bone cancer" EXACT [DOID:184]
synonym: "cancer of bone" EXACT [NCIT:C4016]
synonym: "cancer of skeletal element" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the bone" EXACT [NCIT:C4016]
synonym: "malignant bone neoplasm" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant bone tumor" EXACT [NCIT:C4016]
synonym: "malignant bone tumour" EXACT [DOID:184]
synonym: "malignant neoplasm of bone" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant neoplasm of skeletal element" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the bone" EXACT [NCIT:C4016]
synonym: "malignant osseous neoplasm" EXACT [NCIT:C4016]
synonym: "malignant osseous tumor" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant skeletal element neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of bone" EXACT [NCIT:C4016]
synonym: "malignant tumor of the bone" EXACT [NCIT:C4016]
synonym: "neoplasm of bone" EXACT EXCLUDE [DOID:184]
synonym: "osseous cancer" EXACT [NCIT:C4016]
synonym: "osseous tumor" EXACT [DOID:184, NCIT:C9343]
synonym: "skeletal element cancer" EXACT [MONDO:patterns/location]
xref: COHD:443564 {source="MONDO:equivalentTo"}
xref: CSP:2019-1041 {source="DOID:184"}
xref: DOID:184 {source="MONDO:equivalentTo"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001859 {source="MONDO:equivalentTo", source="DOID:184", source="MONDO:ontobio"}
xref: NCIT:C4016 {source="MONDO:equivalentTo"}
xref: SCTID:428281000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
is_a: MONDO:0002176 {source="DOID:184", source="MONDO:Redundant"} ! connective tissue cancer
is_a: MONDO:0019060 {source="NCIT:C4016"} ! bone neoplasm
property_value: closeMatch http://identifiers.org/snomedct/115239009
property_value: closeMatch http://identifiers.org/snomedct/126537000
property_value: closeMatch http://identifiers.org/snomedct/240201007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005967
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279530
property_value: exactMatch DOID:184
property_value: exactMatch http://identifiers.org/mesh/D001859
property_value: exactMatch http://identifiers.org/snomedct/428281000
property_value: exactMatch NCIT:C4016

[Term]
id: MONDO:0002130
name: upper limb mononeuronitis
def: "A disease affecting a single peripheral nerve of the upper limb." [http://bestpractice.bmj.com/topics/en-us/771]
synonym: "forelimb mononeuritis simplex" EXACT [MONDO:patterns/location]
synonym: "mononeuritis of upper limb" EXACT [DOID:1844]
synonym: "mononeuritis of upper limb, unspecified" EXACT [DOID:1844, ICD9CM_2006:354.9]
synonym: "mononeuritis simplex of forelimb" EXACT [MONDO:design_pattern]
synonym: "mononeuritis upper limb" EXACT [DOID:1844]
xref: DOID:1844 {source="MONDO:equivalentTo"}
xref: ICD9:354.9 {source="DOID:1844"}
is_a: MONDO:0002121 ! mononeuritis simplex
is_a: MONDO:0003607 {source="DOID:1844", source="MONDO:Entailed", source="MONDO:Redundant"} ! neuritis of upper limb
property_value: closeMatch http://identifiers.org/snomedct/193143008
property_value: closeMatch http://identifiers.org/snomedct/58850003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154746
property_value: exactMatch DOID:1844

[Term]
id: MONDO:0002131
name: jaw cancer
def: "A malignant neoplasm involving the jaw skeleton" [MONDO:DesignPattern]
synonym: "cancer of jaw skeleton" EXACT [MONDO:patterns/cancer]
synonym: "jaw neoplasm" BROAD [DOID:1862]
synonym: "jaw skeleton cancer" EXACT [MONDO:patterns/location]
synonym: "malignant jaw skeleton neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of jaw skeleton" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of jaw" BROAD [DOID:1862]
xref: DOID:1862 {source="MONDO:equivalentTo"}
xref: EFO:0007333 {source="MONDO:equivalentTo"}
xref: MESH:D007573 {source="MONDO:equivalentTo", source="DOID:1862", source="MONDO:ontobio"}
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0002516 ! digestive system cancer
is_a: MONDO:0021580 ! neoplasm of jaw
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022364
property_value: exactMatch DOID:1862
property_value: exactMatch http://identifiers.org/mesh/D007573

[Term]
id: MONDO:0002132
name: skull cancer
def: "A malignant neoplasm involving the skull." [MONDO:DesignPattern]
synonym: "cancer of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant skull neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "skull cancer" EXACT [MONDO:patterns/location]
xref: DOID:1863 {source="MONDO:equivalentTo"}
is_a: MONDO:0002129 {source="DOID:1863", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0005627 ! head and neck cancer
is_a: MONDO:0024653 ! skull neoplasm
property_value: closeMatch http://identifiers.org/mesh/D012888
property_value: exactMatch DOID:1863

[Term]
id: MONDO:0002133
name: chronic rheumatic pericarditis
def: "Chronic form of rheumatic pericarditis." [MONDO:patterns/chronic]
synonym: "rheumatic pericarditis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: COHD:321307 {source="MONDO:equivalentTo"}
xref: DOID:1869 {source="MONDO:equivalentTo"}
xref: ICD10:I09.2 {source="MONDO:equivalentTo", source="DOID:1869"}
xref: ICD9:393 {source="MONDO:equivalentTo", source="i2s", source="DOID:1869"}
xref: SCTID:78069008 {source="MONDO:equivalentTo", source="DOID:1869", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155561 {source="MONDO:equivalentTo", source="DOID:1869"}
is_a: MONDO:0024655 ! rheumatic pericarditis
property_value: closeMatch http://identifiers.org/snomedct/155287003
property_value: closeMatch http://identifiers.org/snomedct/194719006
property_value: closeMatch http://identifiers.org/snomedct/194723003
property_value: exactMatch DOID:1869
property_value: exactMatch http://identifiers.org/snomedct/78069008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155561

[Term]
id: MONDO:0002134
name: physiological sexual disorder
def: "Physiological disturbances in normal sexual performance in either the male or the female." [MESH:D012735]
synonym: "physiological sexual disorder" EXACT [MESH:D012735]
synonym: "physiological sexual disorders" RELATED [MESH:D012735]
synonym: "physiological sexual dysfunction" EXACT [MESH:D012735]
synonym: "physiological sexual dysfunctions" RELATED [MESH:D012735]
synonym: "Sex disorders" BROAD [MESH:D012735]
synonym: "sexual disorder, physiological" RELATED [MESH:D012735]
synonym: "sexual disorders, physiological" RELATED [MESH:D012735]
synonym: "sexual dysfunction" BROAD [DOID:1876]
synonym: "sexual dysfunctions, physiological" RELATED [MESH:D012735]
xref: DOID:1876 {source="MONDO:equivalentTo"}
xref: ICD10:F52.9 {source="DOID:1876"}
xref: ICD10:R37 {source="DOID:1876"}
xref: MESH:D012735 {source="MONDO:equivalentTo", source="DOID:1876"}
xref: UMLS:C0549622 {source="MONDO:equivalentTo", source="DOID:1876", source="NCIT:C3347"}
is_a: MONDO:0005039 {source="https://github.com/monarch-initiative/mondo/issues/723", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disease
relationship: excluded_subClassOf MONDO:0000595 {source="DOID:1876"} ! sexual and gender identity disorders
property_value: closeMatch http://identifiers.org/snomedct/225723003
property_value: closeMatch http://identifiers.org/snomedct/39894007
property_value: closeMatch http://identifiers.org/snomedct/56925008
property_value: closeMatch http://identifiers.org/snomedct/65655009
property_value: exactMatch DOID:1876
property_value: exactMatch http://identifiers.org/mesh/D012735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549622
property_value: exactMatch NCIT:C3347

[Term]
id: MONDO:0002135
name: optic nerve disease
def: "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." [NCIT:C79698]
synonym: "cranial nerve II disease" EXACT [MONDO:patterns/location]
synonym: "cranial nerve II disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cranial nerve II" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cranial nerve II" EXACT []
synonym: "disorder of cranial nerve II" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cranial nerve II" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the second nerve" EXACT [DOID:1891]
synonym: "optic nerve disorder" EXACT [CSP2005:2042-6601, DOID:1891, NCIT:C79698]
synonym: "optic neuropathy" EXACT [DOID:1891]
synonym: "second cranial nerve disorder" EXACT [NCIT:C79698]
xref: COHD:374360 {source="MONDO:equivalentTo"}
xref: DOID:1891 {source="MONDO:equivalentTo"}
xref: ICD9:377.49 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:377.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009901 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: NCIT:C79698 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: SCTID:77157004 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: UMLS:C0029132 {source="DOID:1891", source="MONDO:equivalentTo"}
is_a: MONDO:0002602 ! central nervous system disease
is_a: MONDO:0003569 {source="DOID:1891", source="MESH:D009901", source="MONDO:Redundant", source="NCIT:C79698", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0024458 ! disease of visual system
property_value: closeMatch http://identifiers.org/snomedct/194037001
property_value: closeMatch http://identifiers.org/snomedct/267741008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1533675
property_value: exactMatch DOID:1891
property_value: exactMatch http://identifiers.org/mesh/D009901
property_value: exactMatch http://identifiers.org/snomedct/77157004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029132
property_value: exactMatch NCIT:C79698

[Term]
id: MONDO:0002136
name: eczematous dermatitis of eyelid
xref: COHD:437557 {source="MONDO:equivalentTo"}
xref: DOID:1893 {source="MONDO:equivalentTo"}
xref: ICD10:H01.13 {source="DOID:1893"}
xref: ICD9:373.31 {source="DOID:1893", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:36259009 {source="DOID:1893", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155177 {source="DOID:1893", source="MONDO:equivalentTo"}
is_a: MONDO:0002137 {source="DOID:1893"} ! noninfectious dermatoses of eyelid
property_value: exactMatch DOID:1893
property_value: exactMatch http://identifiers.org/snomedct/36259009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155177

[Term]
id: MONDO:0002137
name: noninfectious dermatoses of eyelid
synonym: "non-infected eyelid dermatoses" EXACT [DOID:1894]
xref: DOID:1894 {source="MONDO:equivalentTo"}
xref: ICD10:H01.1 {source="DOID:1894"}
xref: ICD9:373.3 {source="DOID:1894"}
xref: SCTID:111524003 {source="DOID:1894", source="MONDO:equivalentTo"}
xref: UMLS:C0155176 {source="DOID:1894", source="MONDO:equivalentTo"}
is_a: MONDO:0004785 {source="DOID:1894", source="linkedlifedata/inferred"} ! blepharitis
property_value: closeMatch http://identifiers.org/snomedct/193919009
property_value: exactMatch DOID:1894
property_value: exactMatch http://identifiers.org/snomedct/111524003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155176

[Term]
id: MONDO:0002138
name: allergic contact dermatitis of eyelid
def: "A allergic contact dermatitis that involves the eyelid." [MONDO:patterns/location]
synonym: "contact and allergic dermatitis of eyelid" EXACT [DOID:1895, ICD9CM_2006:373.32]
synonym: "eyelid allergic contact dermatitis" EXACT [MONDO:patterns/location]
xref: DOID:1895 {source="MONDO:equivalentTo"}
xref: ICD9:373.32 {source="DOID:1895"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:402249007 {source="MONDO:equivalentTo", source="DOID:1895", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155178 {source="MONDO:equivalentTo", source="DOID:1895"}
is_a: MONDO:0002137 {source="DOID:1895", source="linkedlifedata/inferred"} ! noninfectious dermatoses of eyelid
is_a: MONDO:0005551 ! eye allergy
is_a: MONDO:0006525 {source="DOID:1895", source="MONDO:Redundant", source="MONDOLEX:0002138", source="linkedlifedata"} ! allergic contact dermatitis
property_value: exactMatch DOID:1895
property_value: exactMatch http://identifiers.org/snomedct/402249007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155178

[Term]
id: MONDO:0002139
name: sigmoid disease
def: "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." [MESH:D012810]
xref: DOID:1897 {source="MONDO:equivalentTo"}
xref: MESH:D012810 {source="MONDO:equivalentTo", source="DOID:1897", source="MONDO:ontobio"}
xref: UMLS:C0037072 {source="MONDO:equivalentTo", source="DOID:1897"}
is_a: MONDO:0003409 {source="DOID:1897", source="MESH:D012810"} ! colonic disease
property_value: exactMatch DOID:1897
property_value: exactMatch http://identifiers.org/mesh/D012810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037072

[Term]
id: MONDO:0002140
name: vagina sarcoma
def: "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." [NCIT:C7737]
synonym: "sarcoma of the vagina" EXACT [DOID:1901, NCIT:C7737]
synonym: "sarcoma of vagina" EXACT [MONDO:patterns/sarcoma, NCIT:C7737]
synonym: "vagina sarcoma" EXACT [MONDO:patterns/location, NCIT:C7737]
synonym: "vaginal sarcoma" EXACT [NCIT:C7737]
xref: DOID:1901 {source="MONDO:equivalentTo"}
xref: NCIT:C7737 {source="MONDO:equivalentTo", source="DOID:1901"}
xref: UMLS:C0238519 {source="MONDO:equivalentTo", source="DOID:1901", source="NCIT:C7737"}
is_a: MONDO:0001402 {source="DOID:1901", source="MONDO:Redundant", source="NCIT:C7737"} ! vaginal cancer
is_a: MONDO:0018078 {source="NCIT:C7737"} ! soft tissue sarcoma
property_value: exactMatch DOID:1901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238519
property_value: exactMatch NCIT:C7737

[Term]
id: MONDO:0002141
name: cutaneous undifferentiated pleomorphic sarcoma
def: "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." [NCIT:C5576]
synonym: "cutaneous malignant fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)" EXACT [NCIT:C5576]
synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [NCIT:C5576]
synonym: "malignant cutaneous fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "malignant fibrous histiocytoma of skin" EXACT [NCIT:C5576]
synonym: "malignant fibrous histiocytoma of the skin" EXACT [NCIT:C5576]
synonym: "malignant skin fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "undifferentiated pleomorphic sarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "vaginal melanoma" EXACT EXCLUDE [DOID:1906]
synonym: "zone of skin undifferentiated pleomorphic sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1906 {source="MONDO:equivalentTo"}
xref: EFO:1000212 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5576 {source="DOID:1906", source="MONDO:equivalentTo"}
xref: SCTID:404014008 {source="DOID:1906", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275254 {source="DOID:1906", source="MONDO:equivalentTo", source="NCIT:C5576"}
is_a: MONDO:0002142 {source="MONDO:Redundant", source="MONDOLEX:0002141", source="NCIT:C5576", source="linkedlifedata"} ! undifferentiated pleomorphic sarcoma
is_a: MONDO:0006414 {source="MONDO:Redundant", source="NCIT:C5576"} ! skin sarcoma
property_value: exactMatch DOID:1906
property_value: exactMatch http://identifiers.org/snomedct/404014008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275254
property_value: exactMatch NCIT:C5576

[Term]
id: MONDO:0002142
name: undifferentiated pleomorphic sarcoma
alt_id: MONDO:0016069
def: "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." [NCIT:C4247]
subset: gard_rare {source="GARD:0006963"}
subset: ordo_disease {source="Orphanet:2023"}
synonym: "adult malignant fibrous histiocytoma" EXACT [NCIT:C114541]
synonym: "adult unclassified pleomorphic sarcoma" EXACT [NCIT:C114541]
synonym: "adult undifferentiated pleomorphic sarcoma" EXACT [NCIT:C114541]
synonym: "fibrous histiocytoma, malignant" EXACT [DOID:1907]
synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [DOID:1907]
synonym: "fibroxanthosarcoma" EXACT [DOID:1907, NCIT:C4247]
synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [DOID:1907]
synonym: "histiocytoma, fibrous, malignant" EXACT [NCIT:C4247]
synonym: "malignant fibrohistiocytic tumors" RELATED [GARD:0006963]
synonym: "malignant fibrous cytoma" EXACT [NCIT:C4247]
synonym: "malignant fibrous histiocytoma" EXACT [GARD:0006963, NCIT:C4247]
synonym: "malignant fibrous histiocytoma of soft tissue and bone" EXACT [NCIT:C4247]
synonym: "malignant fibrous histiocytoma of the soft tissue and bone" EXACT [NCIT:C4247]
synonym: "malignant fibroxanthoma" EXACT [NCIT:C4247]
synonym: "MFH" EXACT [DOID:1907, NCIT:C4247]
synonym: "Storiform-pleomorphic fibrous histiocytoma" EXACT [NCIT:C4247]
synonym: "Storiform-pleomorphic malignant fibrous histiocytoma" EXACT [NCIT:C4247]
synonym: "Storiform-pleomorphic MFH" EXACT [NCIT:C4247]
synonym: "unclassified pleomorphic sarcoma" EXACT [NCIT:C4247]
synonym: "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")" EXACT [NCIT:C4247]
synonym: "Unclassified Pleomorphic sarcoma (formerly \"MFH\")" EXACT [NCIT:C4247]
synonym: "undifferentiated pleomorphic sarcoma" EXACT [NCIT:C4247]
synonym: "undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma" RELATED [ONCOTREE:MFH]
synonym: "undifferentiated pleomorphic soft tissue sarcoma" EXACT [NCIT:C4247]
synonym: "UPS" EXACT [NCIT:C4247, Orphanet:2023]
xref: DOID:1907 {source="MONDO:equivalentTo"}
xref: EFO:1001972 {source="MONDO:equivalentTo"}
xref: GARD:0006963 {source="MONDO:equivalentTo"}
xref: HGNC:16982 {source="GARD:0006963"}
xref: ICD10:C49.9 {source="Orphanet:2023", source="ORDO:2023/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8830/3 {source="NCIT:C4247"}
xref: MedDRA:10025552 {source="Orphanet:2023", source="ORDO:2023/e"}
xref: MESH:D051677 {source="Orphanet:2023", source="ORDO:2023/e", source="DOID:1907", source="MONDO:equivalentTo"}
xref: NCIT:C114541 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.49"}
xref: NCIT:C4247 {source="DOID:1907", source="MONDO:equivalentTo"}
xref: ONCOTREE:MFH {source="MONDO:equivalentTo"}
xref: Orphanet:2023 {source="MONDO:equivalentTo"}
xref: SCTID:443439001 {source="DOID:1907", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.68"}
is_a: MONDO:0005509 {source="DOID:1907", source="MESH:D051677"} ! histiocytoma
is_a: MONDO:0018078 {source="EFO:1001972", source="MONDOLEX:0002142", source="NCIT:C114541/inferred", source="NCIT:C4247/inferred", source="Orphanet:2023"} ! soft tissue sarcoma
is_a: MONDO:0021054 {source="Orphanet:2023"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189772005
property_value: closeMatch http://identifiers.org/snomedct/253040001
property_value: closeMatch http://identifiers.org/snomedct/34360000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279546
property_value: exactMatch DOID:1907
property_value: exactMatch http://identifiers.org/meddra/10025552
property_value: exactMatch http://identifiers.org/mesh/D051677
property_value: exactMatch http://identifiers.org/snomedct/443439001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334463
property_value: exactMatch NCIT:C114541
property_value: exactMatch NCIT:C4247
property_value: exactMatch Orphanet:2023
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma xsd:anyURI {source="GARD:0006963"}

[Term]
id: MONDO:0002143
name: vaginal yolk sac tumor
def: "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." [NCIT:C6379]
synonym: "vaginal endodermal sinus neoplasm" EXACT [DOID:1910, NCIT:C6379]
synonym: "vaginal endodermal sinus tumor" EXACT [NCIT:C6379]
synonym: "vaginal yolk Sac neoplasm" EXACT [DOID:1910, NCIT:C6379]
synonym: "vaginal yolk Sac tumor" EXACT [NCIT:C6379]
synonym: "yolk sac tumor" RELATED [ONCOTREE:VYST]
xref: DOID:1910 {source="MONDO:equivalentTo"}
xref: NCIT:C6379 {source="MONDO:equivalentTo", source="DOID:1910", source="exact-label-match"}
xref: ONCOTREE:VYST {source="MONDO:equivalentTo"}
xref: UMLS:C1336945 {source="MONDO:equivalentTo", source="NCIT:C6379", source="DOID:1910"}
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6379"} ! yolk sac tumor
is_a: MONDO:0016094 ! vaginal germ cell malignant tumor
property_value: exactMatch DOID:1910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336945
property_value: exactMatch NCIT:C6379

[Term]
id: MONDO:0002144
name: obsolete hyperuricemia (disease)
synonym: "blood urate raized" EXACT [DOID:1920]
synonym: "hyperuricemia" EXACT [MONDO:ambiguous]
synonym: "uricacidemia" EXACT [CSP2005:1849-8097, DOID:1920]
xref: DOID:1920 {source="MONDO:obsoleteEquivalent"}
xref: EFO:0009104 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D033461 {source="MONDO:obsoleteEquivalent", source="DOID:1920", source="MONDO:ontobio"}
xref: SCTID:35885006 {source="MONDO:obsoleteEquivalent", source="DOID:1920", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0740394 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="DOID:1920"}
property_value: closeMatch http://identifiers.org/snomedct/144021008
property_value: closeMatch http://identifiers.org/snomedct/166733000
property_value: closeMatch http://identifiers.org/snomedct/237857006
property_value: closeMatch http://identifiers.org/snomedct/271198001
property_value: exactMatch DOID:1920
property_value: exactMatch http://identifiers.org/mesh/D033461
property_value: exactMatch http://identifiers.org/snomedct/35885006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740394
property_value: exactMatch NCIT:C3961
is_obsolete: true
replaced_by: HP:0002149

[Term]
id: MONDO:0002145
name: sex differentiation disease
def: "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." [NCIT:C103186]
subset: ordo_group_of_disorders {source="Orphanet:90771"}
synonym: "CARD" BROAD [NCIT:C103186]
synonym: "conditions affecting reproductive development" EXACT [NCIT:C103186]
synonym: "differences of Sex development" EXACT [NCIT:C103186]
synonym: "disorder of sex development" EXACT [MONDO:0019592]
synonym: "disorder of sex differentiation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sex differentiation" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sexual differentiation" EXACT [NCIT:C103186]
synonym: "disorders of Sex development" EXACT [NCIT:C103186]
synonym: "disorders of sex development (DSD)" RELATED [GTR:AN1172969]
synonym: "DSD" BROAD [Orphanet:90771]
synonym: "intersex" EXACT [NCIT:C103186]
synonym: "intersex conditions" EXACT [NCIT:C103186]
synonym: "sex differentiation disorder" EXACT [CSP2005:2586-8784, DOID:1923]
synonym: "sexual differentiation disorder" EXACT [NCIT:C103186]
xref: DOID:1923 {source="MONDO:equivalentTo"}
xref: GTR:AN1172969 {source="UMLS:CN757797"}
xref: MedDRA:10070597 {source="ORDO:90771/e", source="Orphanet:90771"}
xref: MESH:D012734 {source="ORDO:90771/e", source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923"}
xref: NCIT:C103186 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.11"}
xref: Orphanet:90771 {source="MONDO:equivalentTo"}
xref: SCTID:39179006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN757797 {source="MONDO:equivalentTo"}
is_a: MONDO:0002259 {source="DOID:1923", source="MESH:D012734"} ! gonadal disease
is_a: MONDO:0019755 {source="Orphanet:90771"} ! developmental defect during embryogenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930619
property_value: exactMatch DOID:1923
property_value: exactMatch http://identifiers.org/meddra/10070597
property_value: exactMatch http://identifiers.org/mesh/D012734
property_value: exactMatch http://identifiers.org/snomedct/39179006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757797
property_value: exactMatch NCIT:C103186
property_value: exactMatch Orphanet:90771

[Term]
id: MONDO:0002146
name: hypogonadism
def: "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." [NCIT:P378]
synonym: "gonadotropin deficiency" EXACT [NCIT:C9227]
synonym: "hypogonadotropism" EXACT [NCIT:C9227]
xref: DOID:1924 {source="MONDO:equivalentTo"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007006 {source="MONDO:equivalentTo", source="DOID:1924"}
xref: NCIT:C9227 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.16", source="DOID:1924"}
xref: SCTID:48130008 {source="MONDO:kboom-pr-1.00/0.84/14.97", source="MONDO:equivalentTo", source="DOID:1924"}
xref: UMLS:C0020619 {source="MONDO:equivalentTo", source="NCIT:C9227", source="DOID:1924"}
is_a: MONDO:0002259 {source="DOID:1924", source="MESH:D007006", source="NCIT:C9227/inferred"} ! gonadal disease
property_value: exactMatch DOID:1924
property_value: exactMatch http://identifiers.org/mesh/D007006
property_value: exactMatch http://identifiers.org/snomedct/48130008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020619
property_value: exactMatch NCIT:C9227

[Term]
id: MONDO:0002147
name: obsolete Coffin-Siris syndrome
is_obsolete: true
replaced_by: MONDO:0015452

[Term]
id: MONDO:0002148
name: obsolete sphingolipidosis
is_obsolete: true
replaced_by: MONDO:0019255

[Term]
id: MONDO:0002149
name: reproductive system cancer
def: "A malignant neoplasm involving the reproductive organ" [MONDO:DesignPattern]
synonym: "cancer of reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "cancer of reproductive system" EXACT [MONDO:patterns/cancer]
synonym: "cancer of reproductive system" RELATED [DOID:193]
synonym: "malignant neoplasm of reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of reproductive system" EXACT [MONDO:patterns/cancer]
synonym: "malignant reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant reproductive system neoplasm" EXACT [DOID:193, MONDO:patterns/cancer, NCIT:C36076]
synonym: "reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "reproductive system cancer" EXACT []
synonym: "reproductive tumor" EXACT [DOID:193, NCIT:C3674]
xref: DOID:193 {source="MONDO:equivalentTo"}
xref: NCIT:C36076 {source="MONDO:equivalentTo", source="kboom:pr0.77-conf4.77"}
xref: UMLS:C1334618 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C36076", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:193", source="DOID:193/inferred", source="MONDO:Redundant", source="MONDOLEX:0002149"} ! cancer
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C36076"} ! reproductive system neoplasm
property_value: exactMatch DOID:193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334618
property_value: exactMatch NCIT:C36076

[Term]
id: MONDO:0002150
name: hypothalamic disease
def: "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." [MESH:D007027]
synonym: "disease of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of hypothalamus" EXACT []
synonym: "disorder of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of hypothalamus" RELATED [MONDO:patterns/location_top]
synonym: "hypothalamus disease" EXACT [MONDO:design_pattern]
synonym: "hypothalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1931 {source="MONDO:equivalentTo"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007027 {source="MONDO:equivalentTo", source="DOID:1931"}
xref: SCTID:399100005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.78", source="DOID:1931"}
xref: UMLS:C0020655 {source="MONDO:equivalentTo", source="DOID:1931"}
is_a: MONDO:0003081 {source="DOID:1931", source="MONDO:Entailed"} ! thalamic disease
property_value: closeMatch http://identifiers.org/snomedct/190463005
property_value: closeMatch http://identifiers.org/snomedct/88108008
property_value: exactMatch DOID:1931
property_value: exactMatch http://identifiers.org/mesh/D007027
property_value: exactMatch http://identifiers.org/snomedct/399100005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020655

[Term]
id: MONDO:0002151
name: obsolete dysostosis
is_obsolete: true
replaced_by: MONDO:0018234

[Term]
id: MONDO:0002152
name: intermittent squint
synonym: "intermittent heterotropia" EXACT [DOID:1942, ICD9CM_2006:378.2]
xref: DOID:1942 {source="MONDO:equivalentTo"}
xref: ICD10:H50.3 {source="DOID:1942"}
xref: ICD10:H50.30 {source="DOID:1942"}
xref: ICD9:378.2 {source="DOID:1942"}
xref: ICD9:378.20 {source="DOID:1942"}
xref: SCTID:74025007 {source="MONDO:equivalentTo", source="DOID:1942"}
xref: UMLS:C0152210 {source="MONDO:equivalentTo", source="DOID:1942"}
is_a: MONDO:0003432 {source="DOID:1942", source="linkedlifedata/inferred"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/194105004
property_value: closeMatch http://identifiers.org/snomedct/246734002
property_value: exactMatch DOID:1942
property_value: exactMatch http://identifiers.org/snomedct/74025007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152210

[Term]
id: MONDO:0002153
name: telogen effluvium
def: "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." [NCIT:P378]
xref: COHD:140173 {source="MONDO:equivalentTo"}
xref: DOID:1943 {source="MONDO:equivalentTo"}
xref: ICD10:L65.0 {source="MONDO:equivalentTo", source="DOID:1943"}
xref: ICD9:704.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:1943"}
xref: NCIT:C112200 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1943"}
xref: SCTID:39479004 {source="MONDO:equivalentTo", source="DOID:1943", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0263518 {source="MONDO:equivalentTo", source="NCIT:C112200", source="DOID:1943"}
is_a: MONDO:0004907 {source="DOID:1943", source="NCIT:C112200"} ! alopecia
property_value: closeMatch http://identifiers.org/snomedct/201147004
property_value: exactMatch DOID:1943
property_value: exactMatch http://identifiers.org/snomedct/39479004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263518
property_value: exactMatch NCIT:C112200

[Term]
id: MONDO:0002154
name: trichomoniasis
def: "An infection that is caused by Trichomonas." [NCIT:P378]
synonym: "infections, Trichomonas" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Trichomonas infection" EXACT [DOID:1947, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:1947 {source="MONDO:equivalentTo"}
xref: ICD10:A59 {source="MONDO:equivalentTo", source="DOID:1947"}
xref: ICD10:A59.9 {source="DOID:1947"}
xref: ICD9:131 {source="DOID:1947"}
xref: ICD9:131.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:131.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1947"}
xref: MESH:D014245 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1947"}
xref: NCIT:C35720 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99", source="DOID:1947"}
xref: SCTID:56335008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05", source="DOID:1947"}
xref: UMLS:C0040921 {source="MONDO:equivalentTo", source="NCIT:C35720", source="DOID:1947"}
is_a: MONDO:0002428 {source="DOID:1947", source="MESH:D014245", source="NCIT:C35720"} ! protozoa infectious disease
property_value: closeMatch http://identifiers.org/snomedct/105648001
property_value: closeMatch http://identifiers.org/snomedct/187206001
property_value: closeMatch http://identifiers.org/snomedct/187364002
property_value: exactMatch DOID:1947
property_value: exactMatch http://identifiers.org/mesh/D014245
property_value: exactMatch http://identifiers.org/snomedct/56335008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040921
property_value: exactMatch NCIT:C35720

[Term]
id: MONDO:0002155
name: cholecystitis
def: "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." [NCIT:P378]
subset: gard_rare
synonym: "acalculous cholecystitis" RELATED [GARD:0000030]
synonym: "acute and chronic cholecystitis" EXACT [DOID:1949, ICD9CM_2006:575.12]
synonym: "acute cholecystitis" EXACT [DOID:1949, ICD9CM_2006:575.0, NCIT:C35152]
synonym: "acute on chronic cholecystitis" EXACT [DOID:1949]
synonym: "chronic cholecystitis" EXACT [DOID:1949, ICD9CM_2006:575.11]
synonym: "gall bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gallstone cholecystitis" RELATED [GARD:0000030]
synonym: "inflammation of gall bladder" EXACT []
xref: COHD:192956 {source="MONDO:equivalentTo"}
xref: DOID:1949 {source="MONDO:equivalentTo"}
xref: GARD:0000030 {source="MONDO:equivalentTo"}
xref: ICD10:K81 {source="DOID:1949"}
xref: ICD10:K81.9 {source="DOID:1949"}
xref: ICD9:575.10 {source="DOID:1949"}
xref: ICD9:575.11 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002764 {source="DOID:1949", source="MONDO:equivalentTo"}
xref: NCIT:C34465 {source="DOID:1949", source="MONDO:equivalentTo"}
xref: SCTID:20824003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
is_a: MONDO:0004789 {source="DOID:1949", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis
is_a: MONDO:0005281 {source="MESH:D002764", source="MONDO:Redundant", source="NCIT:C34465/inferred", source="linkedlifedata"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/snomedct/197414008
property_value: closeMatch http://identifiers.org/snomedct/76581006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008325
property_value: exactMatch DOID:1949
property_value: exactMatch http://identifiers.org/mesh/D002764
property_value: exactMatch http://identifiers.org/snomedct/20824003
property_value: exactMatch NCIT:C34465

[Term]
id: MONDO:0002156
name: fallopian tube disease
def: "A disease involving the fallopian tube." [MONDO:DesignPattern]
synonym: "disease of fallopian tube" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of fallopian tube" EXACT []
synonym: "disorder of fallopian tube" EXACT [MONDO:patterns/location_top]
synonym: "disorder of fallopian tube" RELATED [MONDO:patterns/location_top]
synonym: "fallopian tube disease" EXACT [MONDO:patterns/location, NCIT:C26771]
synonym: "fallopian tube disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "fallopian tube disorder" EXACT [NCIT:C26771]
xref: DOID:1962 {source="MONDO:equivalentTo"}
xref: MESH:D005184 {source="DOID:1962", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26771 {source="DOID:1962", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:128134005 {source="DOID:1962", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99"}
xref: UMLS:C0015556 {source="NCIT:C26771", source="DOID:1962", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="DOID:1962", source="MESH:D005184/inferred", source="MONDO:Redundant", source="NCIT:C26771", source="linkedlifedata"} ! female reproductive system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch DOID:1962
property_value: exactMatch http://identifiers.org/mesh/D005184
property_value: exactMatch http://identifiers.org/snomedct/128134005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015556
property_value: exactMatch NCIT:C26771

[Term]
id: MONDO:0002157
name: obsolete fallopian tube carcinoma
is_obsolete: true
replaced_by: MONDO:0006206

[Term]
id: MONDO:0002158
name: fallopian tube cancer
def: "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." [NCIT:C7480]
subset: ordo_disease {source="Orphanet:180242"}
synonym: "cancer of fallopian tube" EXACT [MONDO:patterns/cancer]
synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242]
synonym: "fallopian tube cancer" EXACT [MONDO:patterns/location]
synonym: "fallopian tube malignant neoplasm" EXACT [NCIT:C7480]
synonym: "fallopian tube malignant tumor" EXACT [NCIT:C7480]
synonym: "fallopian tube neoplasm" EXACT EXCLUDE [DOID:1964]
synonym: "malignant fallopian tube neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7480]
synonym: "malignant fallopian tube tumor" EXACT [NCIT:C7480]
synonym: "malignant neoplasm of fallopian tube" EXACT [MONDO:patterns/cancer, NCIT:C7480]
synonym: "malignant neoplasm of the fallopian tube" EXACT [NCIT:C7480]
synonym: "malignant neoplasm of uterine tube" EXACT [DOID:1964, MTHICD9_2006:183.2]
synonym: "malignant tubal tumor" EXACT [Orphanet:180242]
synonym: "malignant tumor of fallopian tube" EXACT [NCIT:C7480]
synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866]
synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480]
synonym: "malignant tumour of fallopian tube" EXACT [DOID:1964]
synonym: "neoplasm of fallopian tube" EXACT EXCLUDE [DOID:1964]
synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480]
synonym: "tubal cancer" EXACT [Orphanet:180242]
synonym: "tumor of the fallopian tube" EXACT [DOID:1964, NCIT:C3032]
synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480]
xref: DOID:1964 {source="MONDO:equivalentTo"}
xref: GARD:0009162 {source="MONDO:equivalentTo"}
xref: ICD10:C57.0 {source="DOID:1964", source="Orphanet:180242", source="ORDO:180242/e"}
xref: ICD9:183.2 {source="MONDO:equivalentTo", source="DOID:1964", source="i2s"}
xref: MedDRA:10025915 {source="Orphanet:180242", source="ORDO:180242/e"}
xref: NCIT:C7480 {source="MONDO:equivalentTo", source="DOID:1964"}
xref: Orphanet:180242 {source="MONDO:equivalentTo"}
xref: SCTID:363444001 {source="MONDO:equivalentTo", source="DOID:1964", source="MONDO:kboom-pr-0.91/0.76/0.80"}
xref: UMLS:C0153579 {source="MONDO:equivalentTo", source="DOID:1964", source="Orphanet:180242", source="ORDO:180242/e", source="MEDGEN:kboom-pr94-c94", source="NCIT:C7480"}
xref: UMLS:CN200469 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001416 {source="DOID:1964", source="MONDO:Redundant", source="NCIT:C7480", source="linkedlifedata/inferred"} ! female reproductive organ cancer
is_a: MONDO:0015861 {source="Orphanet:180242"} ! rare uterine adnexal tumor
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C7480", source="OWLReasoner:2017", source="linkedlifedata"} ! fallopian tube neoplasm
property_value: closeMatch http://identifiers.org/mesh/D005185
property_value: closeMatch http://identifiers.org/snomedct/93794008
property_value: exactMatch DOID:1964
property_value: exactMatch http://identifiers.org/meddra/10025915
property_value: exactMatch http://identifiers.org/snomedct/363444001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200469
property_value: exactMatch NCIT:C7480
property_value: exactMatch Orphanet:180242

[Term]
id: MONDO:0002159
name: fallopian tube leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40128]
synonym: "fallopian tube leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C40128]
synonym: "leiomyosarcoma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:1965 {source="MONDO:equivalentTo"}
xref: NCIT:C40128 {source="MONDO:equivalentTo", source="DOID:1965", source="exact-label-match"}
xref: UMLS:C1517116 {source="NCIT:C40128", source="MONDO:equivalentTo", source="DOID:1965"}
is_a: MONDO:0002158 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128"} ! fallopian tube cancer
is_a: MONDO:0005058 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:1965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517116
property_value: exactMatch NCIT:C40128

[Term]
id: MONDO:0002160
name: obsolete cerebral palsy
is_obsolete: true
replaced_by: MONDO:0006497

[Term]
id: MONDO:0002161
name: obsolete fallopian tube carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006207

[Term]
id: MONDO:0002162
name: fallopian tube adenosarcoma
def: "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." [NCIT:C40125]
synonym: "adenosarcoma of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C40125]
synonym: "fallopian tube Mullerian adenosarcoma" EXACT [NCIT:C40125]
synonym: "fallopian tube mullerian adenosarcoma" EXACT [DOID:1973]
synonym: "fallopian tube Müllerian adenosarcoma" EXACT [NCIT:C40125]
xref: DOID:1973 {source="MONDO:equivalentTo"}
xref: NCIT:C40125 {source="DOID:1973", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1517121 {source="DOID:1973", source="MONDO:equivalentTo", source="NCIT:C40125"}
is_a: MONDO:0002158 ! fallopian tube cancer
is_a: MONDO:0005636 {source="DOID:1973", source="MONDO:Redundant", source="NCIT:C40125"} ! adenosarcoma
relationship: excluded_subClassOf MONDO:0006207 {source="DOID:1973"} ! fallopian tube carcinosarcoma
property_value: exactMatch DOID:1973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517121
property_value: exactMatch NCIT:C40125

[Term]
id: MONDO:0002163
name: thymus lipoma
def: "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." [NCIT:P378]
synonym: "lipoma of thymus" EXACT [MONDO:design_pattern]
synonym: "Thymolipoma" EXACT [DOID:1975, NCIT:C6452]
synonym: "Thymolipomatous hamartoma" EXACT [NCIT:C6452]
synonym: "thymus lipoma" EXACT [MONDO:patterns/location]
xref: DOID:1975 {source="MONDO:equivalentTo"}
xref: NCIT:C6452 {source="MONDO:equivalentTo", source="DOID:1975", source="MONDO:kboom-pr-1.00/0.85/15.25"}
xref: UMLS:C1336744 {source="NCIT:C6452", source="MONDO:equivalentTo", source="DOID:1975"}
is_a: MONDO:0005106 {source="DOID:1975", source="MONDO:Redundant", source="MONDOLEX:0002163"} ! lipoma
is_a: MONDO:0021512 ! benign neoplasm of thymus
property_value: closeMatch http://identifiers.org/snomedct/447137005
property_value: exactMatch DOID:1975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336744
property_value: exactMatch NCIT:C6452

[Term]
id: MONDO:0002164
name: focal chorioretinitis
xref: COHD:437850 {source="MONDO:equivalentTo"}
xref: DOID:1979 {source="MONDO:equivalentTo"}
xref: ICD10:H30.0 {source="DOID:1979"}
xref: ICD10:H30.00 {source="DOID:1979"}
xref: ICD9:363.0 {source="DOID:1979"}
xref: ICD9:363.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:1979"}
xref: SCTID:15847003 {source="MONDO:equivalentTo", source="DOID:1979", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154870 {source="MONDO:equivalentTo", source="DOID:1979"}
is_a: MONDO:0004674 {source="DOID:1979", source="linkedlifedata"} ! chorioretinitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/193433002
property_value: closeMatch http://identifiers.org/snomedct/193439003
property_value: closeMatch http://identifiers.org/snomedct/359668007
property_value: closeMatch http://identifiers.org/snomedct/458003
property_value: exactMatch DOID:1979
property_value: exactMatch http://identifiers.org/snomedct/15847003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154870

[Term]
id: MONDO:0002165
name: rectal neoplasm
def: "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C3350]
synonym: "neoplasm of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350]
synonym: "neoplasm of the rectum" EXACT [NCIT:C3350]
synonym: "rectal neoplasm" EXACT [NCIT:C3350]
synonym: "rectal tumor" EXACT [DOID:1984, NCIT:C3350]
synonym: "rectum neoplasm" EXACT [CSP2005:2010-1432, DOID:1984]
synonym: "rectum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rectum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350]
synonym: "tumor of the rectum" EXACT [NCIT:C3350]
xref: DOID:1984 {source="MONDO:equivalentTo"}
xref: MESH:D012004 {source="DOID:1984", source="MONDO:equivalentTo"}
xref: NCIT:C3350 {source="DOID:1984", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126847008 {source="DOID:1984", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034885 {source="NCIT:C3350", source="DOID:1984", source="MONDO:equivalentTo"}
is_a: MONDO:0001593 {source="MESH:D012004/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! rectal disease
is_a: MONDO:0005335 {source="MESH:D012004", source="NCIT:C3350"} ! colorectal neoplasm
property_value: exactMatch DOID:1984
property_value: exactMatch http://identifiers.org/mesh/D012004
property_value: exactMatch http://identifiers.org/snomedct/126847008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034885
property_value: exactMatch NCIT:C3350

[Term]
id: MONDO:0002166
name: rectum lymphoma
def: "An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C5553]
synonym: "lymphoma of rectum" EXACT [DOID:1988, NCIT:C5553]
synonym: "lymphoma of the rectum" EXACT [NCIT:C5553]
synonym: "primary rectal lymphoma" EXACT [NCIT:C5553]
synonym: "rectal lymphoma" EXACT [NCIT:C5553]
synonym: "rectum lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:1988 {source="MONDO:equivalentTo"}
xref: NCIT:C5553 {source="MONDO:equivalentTo", source="DOID:1988"}
xref: UMLS:C1335685 {source="MONDO:equivalentTo", source="NCIT:C5553", source="DOID:1988"}
is_a: MONDO:0006519 {source="DOID:1988", source="MONDO:Redundant", source="NCIT:C5553"} ! rectal cancer
is_a: MONDO:0024656 {source="MONDO:Redundant", source="NCIT:C5553"} ! colorectal lymphoma
property_value: exactMatch DOID:1988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335685
property_value: exactMatch NCIT:C5553

[Term]
id: MONDO:0002167
name: rectum malignant melanoma
def: "An aggressive malignant melanocytic neoplasm that arises from the rectum." [NCIT:C4640]
synonym: "malignant melanoma of rectum" EXACT [NCIT:C4640]
synonym: "malignant melanoma of the rectum" EXACT [NCIT:C4640]
synonym: "melanoma (disease) of rectum" EXACT []
synonym: "melanoma of rectum" EXACT [DOID:1992, NCIT:C4640]
synonym: "melanoma of the rectum" EXACT [NCIT:C4640]
synonym: "rectal malignant melanoma" EXACT [NCIT:C4640]
synonym: "rectal melanoma" EXACT [NCIT:C4640]
synonym: "rectum melanoma" EXACT []
synonym: "rectum melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:1992 {source="MONDO:equivalentTo"}
xref: NCIT:C4640 {source="DOID:1992", source="MONDO:equivalentTo"}
xref: SCTID:276822007 {source="DOID:1992", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349539 {source="DOID:1992", source="MONDO:equivalentTo", source="NCIT:C4640"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0003646 ! rectum neuroendocrine neoplasm
is_a: MONDO:0044937 ! rectal carcinoma
is_a: MONDO:0045070 ! digestive system melanoma
property_value: exactMatch DOID:1992
property_value: exactMatch http://identifiers.org/snomedct/276822007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349539
property_value: exactMatch NCIT:C4640

[Term]
id: MONDO:0002168
name: rectum sarcoma
def: "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:P378]
synonym: "rectal sarcoma" EXACT [NCIT:C5548]
synonym: "rectum sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of rectum" EXACT [DOID:1995, MONDO:patterns/sarcoma, NCIT:C5548]
synonym: "sarcoma of the rectum" EXACT [NCIT:C5548]
xref: DOID:1995 {source="MONDO:equivalentTo"}
xref: NCIT:C5548 {source="DOID:1995", source="MONDO:equivalentTo"}
xref: UMLS:C1335688 {source="DOID:1995", source="MONDO:equivalentTo", source="NCIT:C5548"}
is_a: MONDO:0005089 {source="DOID:1995", source="MONDO:Redundant", source="NCIT:C5548/inferred"} ! sarcoma
is_a: MONDO:0006519 {source="DOID:1995", source="MONDO:Redundant", source="NCIT:C5548"} ! rectal cancer
property_value: exactMatch DOID:1995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335688
property_value: exactMatch NCIT:C5548

[Term]
id: MONDO:0002169
name: rectum adenocarcinoma
def: "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C9383]
synonym: "adenocarcinoma - rectum" EXACT [NCIT:C9383]
synonym: "adenocarcinoma of rectum" EXACT [DOID:1996, NCIT:C9383]
synonym: "adenocarcinoma of the rectum" EXACT [NCIT:C9383]
synonym: "read" RELATED [ONCOTREE:READ]
synonym: "rectal adenocarcinoma" EXACT [DOID:1996, MONDO:0005540, NCIT:C9383]
synonym: "rectum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1996 {source="MONDO:equivalentTo"}
xref: EFO:0005631 {source="MONDO:equivalentTo"}
xref: NCIT:C9383 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996"}
xref: ONCOTREE:READ {source="MONDO:equivalentTo"}
xref: SCTID:254582000 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996", source="MONDO:kboom-pr-0.96/0.76/2.31"}
xref: UMLS:C0149978 {source="MONDO:equivalentTo", source="DOID:1996", source="NCIT:C9383"}
is_a: MONDO:0005008 {source="DOID:1996", source="MONDO:Redundant", source="NCIT:C9383", source="ONCOTREE:READ", source="linkedlifedata"} ! colorectal adenocarcinoma
is_a: MONDO:0044937 ! rectal carcinoma
property_value: exactMatch DOID:1996
property_value: exactMatch http://identifiers.org/snomedct/254582000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149978
property_value: exactMatch NCIT:C9383

[Term]
id: MONDO:0002170
name: chronic eustachian salpingitis
def: "Chronic form of otosalpingitis." [MONDO:patterns/chronic]
synonym: "chronic eustachian tube salpingitis" EXACT [DOID:1999]
synonym: "chronic otosalpingitis" EXACT [MONDO:design_pattern]
synonym: "otosalpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:1999 {source="MONDO:equivalentTo"}
xref: ICD10:H68.02 {source="DOID:1999"}
xref: ICD10:H68.029 {source="DOID:1999"}
xref: ICD9:381.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:1999"}
xref: SCTID:194269002 {source="MONDO:equivalentTo", source="DOID:1999", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155430 {source="MONDO:equivalentTo", source="DOID:1999"}
is_a: MONDO:0002172 {source="DOID:1999", source="MONDO:Redundant", source="linkedlifedata"} ! otosalpingitis
is_a: MONDO:0021204 ! chronic otitis media
property_value: closeMatch http://identifiers.org/snomedct/16397004
property_value: exactMatch DOID:1999
property_value: exactMatch http://identifiers.org/snomedct/194269002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155430

[Term]
id: MONDO:0002171
name: giant cell tumor
def: "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." [NCIT:C3055]
comment: editor note: consider separate term for neoplasm (C3055 in NCIT)
synonym: "giant cell neoplasm" EXACT [DOID:200, NCIT:C7069]
synonym: "giant cell tumor" EXACT [NCIT:C3055]
synonym: "giant cell tumor (morphologic abnormality)" EXACT [DOID:200]
synonym: "giant cell tumor (qualifier value)" EXACT [DOID:200]
synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [DOID:200]
synonym: "giant cell tumors" RELATED [DOID:200]
synonym: "giant cell tumors (morphologic abnormality)" EXACT [DOID:200]
synonym: "tumor of the giant cell" EXACT [DOID:200, NCIT:C3055]
xref: DOID:200 {source="MONDO:equivalentTo"}
xref: MESH:D005870 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:200"}
xref: NCIT:C3055 {source="MONDO:equivalentTo", source="DOID:200"}
xref: SCTID:443790001 {source="MONDO:equivalentTo", source="DOID:200", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017525 {source="NCIT:C3055", source="MONDO:equivalentTo", source="DOID:200"}
is_a: MONDO:0005070 {source="DOID:200/inferred", source="MESH:D005870/inferred", source="MONDOLEX:0002171", source="NCIT:C3055/inferred", source="linkedlifedata"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/115238001
property_value: closeMatch http://identifiers.org/snomedct/134300001
property_value: closeMatch http://identifiers.org/snomedct/189890001
property_value: closeMatch http://identifiers.org/snomedct/189893004
property_value: closeMatch NCIT:C7069
property_value: exactMatch DOID:200
property_value: exactMatch http://identifiers.org/mesh/D005870
property_value: exactMatch http://identifiers.org/snomedct/443790001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017525
property_value: exactMatch NCIT:C3055

[Term]
id: MONDO:0002172
name: otosalpingitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Eustachian salpingitis" EXACT [DOID:2000, ICD9CM_2006:381.5]
synonym: "Eustachian tube salpingitis" EXACT [DOID:2000]
synonym: "inflammation of pharyngotympanic tube" EXACT []
synonym: "pharyngotympanic tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2000 {source="MONDO:equivalentTo"}
xref: ICD10:H68.0 {source="DOID:2000", source="MONDO:equivalentTo"}
xref: ICD10:H68.00 {source="DOID:2000"}
xref: ICD10:H68.009 {source="DOID:2000"}
xref: ICD9:381.5 {source="DOID:2000"}
xref: ICD9:381.50 {source="DOID:2000", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:270491006 {source="DOID:2000", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155428 {source="DOID:2000", source="MONDO:equivalentTo"}
is_a: MONDO:0004866 {source="DOID:2000", source="MONDO:Redundant", source="linkedlifedata"} ! eustachian tube disease
is_a: MONDO:0005441 ! otitis media (disease)
property_value: closeMatch http://identifiers.org/snomedct/194266009
property_value: closeMatch http://identifiers.org/snomedct/194267000
property_value: closeMatch http://identifiers.org/snomedct/194270001
property_value: closeMatch http://identifiers.org/snomedct/35349000
property_value: exactMatch DOID:2000
property_value: exactMatch http://identifiers.org/snomedct/270491006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155428

[Term]
id: MONDO:0002173
name: neuroma
def: "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." [NCIT:C3275]
comment: Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split
xref: DOID:2001 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9570/0 {source="NCIT:C3275"}
xref: MESH:D009463 {source="DOID:2001", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3275 {source="DOID:2001", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:443892003 {source="DOID:2001", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.92"}
xref: UMLS:C0027858 {source="DOID:2001", source="NCIT:C3275", source="MONDO:equivalentTo"}
is_a: MONDO:0003620 ! peripheral nervous system disease
relationship: excluded_subClassOf MONDO:0000648 {source="DOID:2001"} ! nervous system benign neoplasm
relationship: excluded_subClassOf MONDO:0002547 {source="MESH:D009463"} ! nerve sheath neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154622009
property_value: closeMatch http://identifiers.org/snomedct/189950003
property_value: closeMatch http://identifiers.org/snomedct/25169009
property_value: closeMatch http://identifiers.org/snomedct/274089002
property_value: exactMatch DOID:2001
property_value: exactMatch http://identifiers.org/mesh/D009463
property_value: exactMatch http://identifiers.org/snomedct/443892003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027858
property_value: exactMatch NCIT:C3275

[Term]
id: MONDO:0002174
name: preretinal fibrosis
def: "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" [MESH:D019773]
synonym: "cellophane maculopathy" EXACT [DOID:2006]
synonym: "macular puckering of retina" EXACT [DOID:2006, ICD9CM_2006:362.56]
synonym: "macular retinal puckering" EXACT [DOID:2006]
xref: DOID:2006 {source="MONDO:equivalentTo"}
xref: ICD9:362.56 {source="DOID:2006", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:362.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019773 {source="DOID:2006", source="MONDO:equivalentTo"}
xref: SCTID:367649002 {source="DOID:2006", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
is_a: MONDO:0002175 {source="DOID:2006"} ! degeneration of macula and posterior pole
property_value: closeMatch http://identifiers.org/snomedct/133853005
property_value: closeMatch http://identifiers.org/snomedct/193391002
property_value: closeMatch http://identifiers.org/snomedct/53428005
property_value: closeMatch http://identifiers.org/snomedct/55991001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339543
property_value: exactMatch DOID:2006
property_value: exactMatch http://identifiers.org/mesh/D019773
property_value: exactMatch http://identifiers.org/snomedct/367649002

[Term]
id: MONDO:0002175
name: degeneration of macula and posterior pole
synonym: "degeneration of macula and posterior pole of retina" EXACT [DOID:2007, ICD9CM_2006:362.5]
synonym: "degeneration of macula or posterior pole" EXACT [DOID:2007]
xref: DOID:2007 {source="MONDO:equivalentTo"}
xref: ICD10:H35.3 {source="MONDO:equivalentTo", source="DOID:2007"}
xref: ICD9:362.5 {source="DOID:2007"}
xref: SCTID:267611002 {source="MONDO:equivalentTo", source="DOID:2007", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339436 {source="MONDO:equivalentTo", source="DOID:2007"}
is_a: MONDO:0003004 {source="DOID:2007", source="linkedlifedata"} ! macular degeneration
property_value: closeMatch http://identifiers.org/snomedct/193384000
property_value: closeMatch http://identifiers.org/snomedct/193392009
property_value: exactMatch DOID:2007
property_value: exactMatch http://identifiers.org/snomedct/267611002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339436

[Term]
id: MONDO:0002176
name: connective tissue cancer
def: "A malignant neoplasm involving the connective tissue" [MONDO:DesignPattern]
synonym: "cancer of connective tissue" EXACT [MONDO:patterns/cancer]
synonym: "connective tissue cancer" EXACT [MONDO:patterns/location]
synonym: "connective tissue neoplasm" BROAD [CSP2005:2008-3809, DOID:201]
synonym: "malignant connective tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of connective tissue" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of connective tissues" EXACT [DOID:201]
synonym: "tumour of connective tissue" EXACT EXCLUDE [DOID:201]
xref: DOID:201 {source="MONDO:equivalentTo"}
is_a: MONDO:0000637 {source="DOID:201", source="MONDO:Entailed"} ! musculoskeletal system cancer
is_a: MONDO:0021581 ! connective tissue neoplasm
property_value: closeMatch http://identifiers.org/snomedct/254821003
property_value: exactMatch DOID:201

[Term]
id: MONDO:0002177
name: hyperinsulinism (disease)
def: "Abnormally high levels of insulin in the blood." [NCIT:P378]
synonym: "hyperinsulinemia" EXACT [CSP2005:2204-2400, DOID:2018]
synonym: "hyperinsulinism" EXACT [MONDO:ambiguous]
xref: DOID:2018 {source="MONDO:equivalentTo"}
xref: HP:0000842 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E16.1 {source="DOID:2018"}
xref: ICD9:251.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006946 {source="MONDO:equivalentTo", source="DOID:2018", source="MONDO:ontobio"}
xref: SCTID:83469008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2018"}
xref: UMLS:C0020459 {source="MONDO:equivalentTo", source="DOID:2018"}
is_a: MONDO:0001933 {source="DOID:2018", source="linkedlifedata"} ! endocrine pancreas disease
is_a: MONDO:0002908 {source="DOID:2018", source="MESH:D006946", source="MONDO:Entailed", source="MONDO:Redundant"} ! glucose metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/124860004
property_value: closeMatch http://identifiers.org/snomedct/131103005
property_value: closeMatch http://identifiers.org/snomedct/154694003
property_value: closeMatch http://identifiers.org/snomedct/267477002
property_value: exactMatch DOID:2018
property_value: exactMatch http://identifiers.org/mesh/D006946
property_value: exactMatch http://identifiers.org/snomedct/83469008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020459
property_value: exactMatch NCIT:C113104

[Term]
id: MONDO:0002178
name: placenta cancer
def: "A malignant neoplasm involving the placenta." [MONDO:DesignPattern]
synonym: "cancer of placenta" EXACT [MONDO:patterns/cancer]
synonym: "deciduoma, malignant" EXACT [NCIT:C3555]
synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM_2006:181, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the placenta" EXACT [NCIT:C3555]
synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant placenta tumor" EXACT [NCIT:C3555]
synonym: "malignant placental neoplasm" EXACT [NCIT:C3555]
synonym: "malignant placental tumor" EXACT [DOID:2021, NCIT:C3555]
synonym: "malignant tumor of placenta" EXACT [NCIT:C3555]
synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555]
synonym: "neoplasm of placenta" EXACT EXCLUDE [DOID:2021]
synonym: "placenta cancer" EXACT [MONDO:patterns/location]
synonym: "placental cancer" EXACT [CSP2005:2403-0590, DOID:2021]
synonym: "placental tumors" EXACT [DOID:2021, NCIT:C4858]
synonym: "primary malignant neoplasm of placenta" EXACT [DOID:2021]
xref: DOID:2021 {source="MONDO:equivalentTo"}
xref: ICD10:C58 {source="DOID:2021"}
xref: ICD9:181 {source="DOID:2021", source="MONDO:relatedTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3555 {source="DOID:2021", source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo"}
xref: SCTID:126920004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0153572 {source="DOID:2021", source="MONDO:equivalentTo", source="NCIT:C3555"}
is_a: MONDO:0002715 ! uterine cancer
is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C3555"} ! placenta neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188187004
property_value: closeMatch http://identifiers.org/snomedct/449421003
property_value: exactMatch DOID:2021
property_value: exactMatch http://identifiers.org/snomedct/126920004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153572
property_value: exactMatch NCIT:C3555

[Term]
id: MONDO:0002179
name: obsolete placental choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0006374

[Term]
id: MONDO:0002180
name: obsolete gestational choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0020550

[Term]
id: MONDO:0002181
name: exostosis
def: "Non-neoplastic overgrowth of bone." [NCIT:C3029]
comment: Editor note: compare with osteophyte
synonym: "bone osteophyte" EXACT []
synonym: "bone spur" EXACT [DOID:203, NCIT:C3029]
synonym: "bony outgrowth" EXACT [DOID:203]
synonym: "exostosis" EXACT [NCIT:C3029]
synonym: "orbital exostosis" NARROW [DOID:203]
synonym: "osteophyte" EXACT [DOID:203]
synonym: "swimmer's exostosis" NARROW [DOID:203]
xref: COHD:72715 {source="MONDO:equivalentTo"}
xref: DOID:203 {source="MONDO:equivalentTo"}
xref: ICD10:M27.8 {source="DOID:203"}
xref: ICD9:726.91 {source="DOID:203", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3029 {source="DOID:203", source="MONDO:equivalentTo"}
xref: SCTID:235231000119100 {source="MONDO:equivalentTo"}
xref: SCTID:416189003 {source="DOID:203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C1442903 {source="DOID:203", source="MONDO:equivalentTo", source="NCIT:C3029"}
xref: UMLS:C1956089 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002185 {source="DOID:203", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperostosis
property_value: closeMatch http://identifiers.org/mesh/D005096
property_value: closeMatch http://identifiers.org/snomedct/156665008
property_value: closeMatch http://identifiers.org/snomedct/202894007
property_value: closeMatch http://identifiers.org/snomedct/267997004
property_value: closeMatch http://identifiers.org/snomedct/268091003
property_value: closeMatch http://identifiers.org/snomedct/80400009
property_value: exactMatch DOID:203
property_value: exactMatch http://identifiers.org/snomedct/235231000119100
property_value: exactMatch http://identifiers.org/snomedct/416189003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1442903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956089
property_value: exactMatch NCIT:C3029

[Term]
id: MONDO:0002182
name: communication disorder
def: "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." [NCIT:P378]
subset: gard_rare
synonym: "communicative disorders" EXACT [NCIT:C2958]
xref: COHD:4150614 {source="MONDO:equivalentTo"}
xref: DOID:2033 {source="MONDO:equivalentTo"}
xref: ICD10:F80.9 {source="DOID:2033"}
xref: ICD9:307.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003147 {source="DOID:2033", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2958 {source="DOID:2033", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:278919001 {source="DOID:2033", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000592 {source="DOID:2033"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/74825008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009460
property_value: exactMatch DOID:2033
property_value: exactMatch http://identifiers.org/mesh/D003147
property_value: exactMatch http://identifiers.org/snomedct/278919001
property_value: exactMatch NCIT:C2958
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels xsd:anyURI {source="GARD:0003857"}

[Term]
id: MONDO:0002183
name: enthesopathy
def: "A disorder involving the attachment of a tendon or ligament to a bone" [https://en.wikipedia.org/wiki/Enthesopathy]
synonym: "disease of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of enthesis" EXACT []
synonym: "disorder of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of enthesis" RELATED [MONDO:patterns/location_top]
synonym: "enthesis disease" EXACT [MONDO:design_pattern]
synonym: "enthesis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:73008 {source="MONDO:equivalentTo"}
xref: DOID:204 {source="MONDO:equivalentTo"}
xref: ICD10:M77.9 {source="DOID:204"}
xref: ICD9:726.9 {source="DOID:204"}
xref: ICD9:726.90 {source="DOID:204", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:23680005 {source="DOID:204", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.11"}
xref: UMLS:C0242490 {source="DOID:204", source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="DOID:204/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! musculoskeletal system disease
is_a: MONDO:0003900 {source="DOID:204", source="MONDO:Entailed", source="MONDO:Redundant"} ! connective tissue disease
property_value: closeMatch http://identifiers.org/snomedct/202890003
property_value: closeMatch http://identifiers.org/snomedct/278525009
property_value: exactMatch DOID:204
property_value: exactMatch http://identifiers.org/snomedct/23680005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242490

[Term]
id: MONDO:0002184
name: drug-induced hepatitis
def: "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." [MESH:D056487]
synonym: "drug-induced chronic hepatitis" EXACT [DOID:2044]
xref: DOID:2044 {source="MONDO:equivalentTo"}
xref: EFO:1000905 {source="MONDO:equivalentTo"}
xref: SCTID:235889003 {source="DOID:2044", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0002251 {source="DOID:2044", source="MONDO:Entailed", source="MONDO:Redundant"} ! hepatitis
is_a: MONDO:0005359 ! drug-induced liver injury
property_value: closeMatch http://identifiers.org/mesh/D056487
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524912
property_value: exactMatch DOID:2044
property_value: exactMatch http://identifiers.org/snomedct/235889003

[Term]
id: MONDO:0002185
name: hyperostosis
def: "Excessive thickening of bone." [NCIT:P378]
synonym: "bone hypertrophy" EXACT [DOID:205, NCIT:C34712]
synonym: "hypertrophy of bone" EXACT [DOID:205, MTHICD9_2006:733.99]
synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [DOID:205]
xref: DOID:205 {source="MONDO:equivalentTo"}
xref: ICD10:M89.3 {source="DOID:205"}
xref: ICD10:M89.30 {source="DOID:205"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015576 {source="DOID:205", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34712 {source="DOID:205", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:203514008 {source="DOID:205", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020492 {source="DOID:205", source="MONDO:equivalentTo", source="NCIT:C34712"}
is_a: MONDO:0000833 {source="DOID:205"} ! bone remodeling disease
property_value: closeMatch http://identifiers.org/snomedct/13814009
property_value: exactMatch DOID:205
property_value: exactMatch http://identifiers.org/mesh/D015576
property_value: exactMatch http://identifiers.org/snomedct/203514008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020492
property_value: exactMatch NCIT:C34712

[Term]
id: MONDO:0002186
name: acute maxillary sinusitis
def: "Acute form of maxillary sinusitis." [MONDO:patterns/acute]
synonym: "acute antritis" EXACT [DOID:2050]
synonym: "maxillary sinusitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:141323 {source="MONDO:equivalentTo"}
xref: DOID:2050 {source="MONDO:equivalentTo"}
xref: ICD10:J01.0 {source="MONDO:equivalentTo", source="DOID:2050"}
xref: ICD10:J01.00 {source="DOID:2050"}
xref: ICD9:461.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2050"}
xref: SCTID:68272006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2050"}
xref: UMLS:C0155804 {source="MONDO:equivalentTo", source="DOID:2050"}
is_a: MONDO:0005842 {source="DOID:2050", source="MONDO:Redundant", source="MONDOLEX:0002186", source="linkedlifedata"} ! maxillary sinusitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155499007
property_value: closeMatch http://identifiers.org/snomedct/18714001
property_value: exactMatch DOID:2050
property_value: exactMatch http://identifiers.org/snomedct/68272006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155804

[Term]
id: MONDO:0002187
name: vulvar disease
def: "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." [NCIT:P378]
synonym: "disorder of vulva" EXACT []
synonym: "vulval disorder" RELATED []
synonym: "vulvar disease" EXACT [NCIT:C27631]
synonym: "vulvar disorder" EXACT [NCIT:C27631]
xref: DOID:2059 {source="MONDO:equivalentTo"}
xref: MESH:D014845 {source="DOID:2059", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27631 {source="DOID:2059", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:5089007 {source="DOID:2059", source="MONDO:equivalentTo"}
xref: UMLS:C0042994 {source="DOID:2059", source="NCIT:C27631", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="DOID:2059", source="MESH:D014845", source="NCIT:C27631", source="linkedlifedata"} ! female reproductive system disease
property_value: exactMatch DOID:2059
property_value: exactMatch http://identifiers.org/mesh/D014845
property_value: exactMatch http://identifiers.org/snomedct/5089007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042994
property_value: exactMatch NCIT:C27631

[Term]
id: MONDO:0002188
name: vulvar nodular hidradenoma
def: "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." [NCIT:C40312]
synonym: "mammalian vulva nodular hidradenoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nodular hidradenoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar nodular hidradenoma" EXACT [NCIT:C40312]
xref: DOID:2060 {source="MONDO:equivalentTo"}
xref: NCIT:C40312 {source="MONDO:equivalentTo", source="DOID:2060", source="exact-label-match"}
xref: UMLS:C1520091 {source="MONDO:equivalentTo", source="DOID:2060", source="NCIT:C40312"}
is_a: MONDO:0000643 {source="DOID:2060", source="MONDO:Redundant", source="NCIT:C40312"} ! vulvar benign neoplasm
is_a: MONDO:0002189 {source="MONDO:Redundant", source="MONDOLEX:0002188", source="NCIT:C40312"} ! nodular hidradenoma
is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C40312/inferred"} ! benign neoplasm of sweat gland
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: exactMatch DOID:2060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520091
property_value: exactMatch NCIT:C40312

[Term]
id: MONDO:0002189
name: nodular hidradenoma
def: "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative." [NCIT:P378]
synonym: "eccrine nodular hidradenoma" RELATED [DOID:2061]
synonym: "nodular hidradenoma" EXACT [DOID:2061, MTH:NOCODE, NCIT:C7568]
synonym: "solid and cystic hidradenoma" EXACT [NCIT:C7568]
xref: DOID:2061 {source="MONDO:equivalentTo"}
xref: ICDO:8402/0 {source="NCIT:C7568"}
xref: NCIT:C7568 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:253020008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.34/0.07"}
is_a: MONDO:0002805 {source="DOID:2061", source="MONDOLEX:0002189", source="NCIT:C7568"} ! hidradenoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1370700
property_value: exactMatch DOID:2061
property_value: exactMatch http://identifiers.org/snomedct/253020008
property_value: exactMatch NCIT:C7568

[Term]
id: MONDO:0002190
name: vulvar syringoma
def: "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." [NCIT:C40311]
synonym: "mammalian vulva syringoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "syringoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar syringoma" EXACT [NCIT:C40311]
xref: DOID:2064 {source="MONDO:equivalentTo"}
xref: NCIT:C40311 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:2064"}
xref: UMLS:C1520099 {source="MONDO:equivalentTo", source="NCIT:C40311", source="DOID:2064"}
is_a: MONDO:0000643 {source="DOID:2064", source="MONDO:Redundant", source="NCIT:C40311"} ! vulvar benign neoplasm
is_a: MONDO:0002191 {source="MONDO:Redundant", source="NCIT:C40311"} ! syringoma
is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C40311/inferred"} ! benign neoplasm of sweat gland
property_value: exactMatch DOID:2064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520099
property_value: exactMatch NCIT:C40311

[Term]
id: MONDO:0002191
name: syringoma
def: "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." [NCIT:C3761]
synonym: "eccrine syringoma" EXACT [NCIT:C3761]
synonym: "syringoma" EXACT [NCIT:C3761]
xref: DOID:2065 {source="MONDO:equivalentTo"}
xref: GARD:0010547 {source="MONDO:equivalentTo"}
xref: ICDO:8407/0 {source="NCIT:C3761"}
xref: MESH:D018252 {source="DOID:2065", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3761 {source="DOID:2065", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:302828001 {source="MONDO:kboom-pr-1.00/0.85/13.81", source="DOID:2065", source="MONDO:equivalentTo"}
xref: UMLS:C0206673 {source="DOID:2065", source="MONDO:equivalentTo", source="NCIT:C3761"}
is_a: MONDO:0002381 {source="DOID:2065", source="NCIT:C3761/inferred"} ! sweat gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/134158007
property_value: closeMatch http://identifiers.org/snomedct/189051001
property_value: closeMatch http://identifiers.org/snomedct/71244007
property_value: exactMatch DOID:2065
property_value: exactMatch http://identifiers.org/mesh/D018252
property_value: exactMatch http://identifiers.org/snomedct/302828001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206673
property_value: exactMatch NCIT:C3761

[Term]
id: MONDO:0002192
name: vulvar angiokeratoma
def: "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." [NCIT:P378]
synonym: "angiokeratoma of Fordyce of mammalian vulva" RELATED []
synonym: "angiokeratoma of mammalian vulva" EXACT []
synonym: "mammalian vulva angiokeratoma" EXACT [MONDO:patterns/location]
synonym: "mammalian vulva angiokeratoma of Fordyce" EXACT [MONDO:patterns/location]
xref: DOID:2066 {source="MONDO:equivalentTo"}
xref: NCIT:C8596 {source="DOID:2066", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:402841001 {source="DOID:2066", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.72"}
xref: UMLS:C1274281 {source="DOID:2066", source="NCIT:C8596", source="MONDO:equivalentTo"}
is_a: MONDO:0000643 {source="DOID:2066", source="MONDO:Entailed", source="MONDO:Redundant"} ! vulvar benign neoplasm
is_a: MONDO:0003954 {source="DOID:2066", source="MONDO:Redundant", source="MONDOLEX:0002192", source="linkedlifedata"} ! angiokeratoma of Fordyce
property_value: exactMatch DOID:2066
property_value: exactMatch http://identifiers.org/snomedct/402841001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274281
property_value: exactMatch NCIT:C8596

[Term]
id: MONDO:0002193
name: Bartholin gland benign neoplasm
def: "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:P378]
synonym: "Bartholin gland neoplasm" BROAD [DOID:2068]
synonym: "major vestibular gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of Bartholin's gland" BROAD [DOID:2068, NCIT:C6434]
xref: DOID:2068 {source="MONDO:equivalentTo"}
xref: SCTID:189130001 {source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
is_a: MONDO:0000626 {source="DOID:2068", source="MONDO:Entailed", source="MONDO:Redundant"} ! vestibular gland benign neoplasm
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0021114 ! Bartholin gland neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220616
property_value: exactMatch DOID:2068
property_value: exactMatch http://identifiers.org/snomedct/189130001

[Term]
id: MONDO:0002194
name: vestibular papilloma
def: "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:C6376]
synonym: "mammalian vulva squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "vestibular papilloma" EXACT [NCIT:C6376]
synonym: "vulvar squamous papilloma" EXACT [NCIT:C6376]
xref: DOID:2071 {source="MONDO:equivalentTo"}
xref: NCIT:C6376 {source="MONDO:equivalentTo", source="DOID:2071"}
xref: UMLS:C1336982 {source="NCIT:C6376", source="MONDO:equivalentTo", source="DOID:2071"}
is_a: MONDO:0000643 {source="MONDO:Redundant", source="NCIT:C6376", source="OWLReasoner:2017"} ! vulvar benign neoplasm
is_a: MONDO:0001825 {source="MONDO:Redundant", source="MONDOLEX:0002194", source="NCIT:C6376"} ! squamous papilloma
is_a: MONDO:0002195 {source="DOID:2071", source="NCIT:C6376"} ! vulvar squamous neoplasm
property_value: exactMatch DOID:2071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336982
property_value: exactMatch NCIT:C6376

[Term]
id: MONDO:0002195
name: vulvar squamous neoplasm
def: "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." [NCIT:C40283]
synonym: "mammalian vulva squamous cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulvar squamous neoplasm" EXACT [NCIT:C40283]
synonym: "vulvar squamous tumor" EXACT [NCIT:C40283]
xref: DOID:2072 {source="MONDO:equivalentTo"}
xref: NCIT:C40283 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2072"}
xref: UMLS:C1520097 {source="MONDO:equivalentTo", source="NCIT:C40283", source="DOID:2072"}
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40283"} ! squamous cell neoplasm
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40283"} ! vulvar neoplasm
property_value: exactMatch DOID:2072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520097
property_value: exactMatch NCIT:C40283

[Term]
id: MONDO:0002196
name: perinatal intestinal perforation
xref: COHD:199925 {source="MONDO:equivalentTo"}
xref: DOID:2073 {source="MONDO:equivalentTo"}
xref: ICD10:P78.0 {source="MONDO:equivalentTo", source="DOID:2073"}
xref: ICD9:777.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:2073"}
xref: SCTID:65390006 {source="MONDO:equivalentTo", source="DOID:2073", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0159006 {source="MONDO:equivalentTo", source="DOID:2073"}
is_a: MONDO:0006807 {source="DOID:2073", source="linkedlifedata"} ! intestinal perforation
property_value: closeMatch http://identifiers.org/snomedct/206526009
property_value: exactMatch DOID:2073
property_value: exactMatch http://identifiers.org/snomedct/65390006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0159006

[Term]
id: MONDO:0002197
name: minor vestibular glands adenoma
def: "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present." [NCIT:C40301]
synonym: "adenoma of minor vestibular glands" EXACT [DOID:2075, NCIT:C40301]
synonym: "minor vestibular gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:2075 {source="MONDO:equivalentTo"}
xref: NCIT:C40301 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:2075"}
xref: UMLS:C1510791 {source="MONDO:equivalentTo", source="DOID:2075", source="NCIT:C40301"}
is_a: MONDO:0000626 {source="DOID:2075", source="MONDO:Entailed", source="MONDO:Redundant"} ! vestibular gland benign neoplasm
is_a: MONDO:0002198 {source="DOID:2075", source="NCIT:C40301"} ! vulvar glandular neoplasm
is_a: MONDO:0002219 ! paraurethral gland neoplasm
is_a: MONDO:0004177 ! benign urethral neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40301"} ! adenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:2075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510791
property_value: exactMatch NCIT:C40301

[Term]
id: MONDO:0002198
name: vulvar glandular neoplasm
def: "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." [NCIT:C40292]
synonym: "mammalian vulva glandular cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulvar glandular neoplasm" EXACT [NCIT:C40292]
synonym: "vulvar glandular tumor" EXACT [NCIT:C40292]
xref: DOID:2076 {source="MONDO:equivalentTo"}
xref: NCIT:C40292 {source="DOID:2076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1520082 {source="DOID:2076", source="NCIT:C40292", source="MONDO:equivalentTo"}
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40292"} ! vulvar neoplasm
is_a: MONDO:0024276 {source="MONDO:Redundant", source="MONDOLEX:0002198", source="NCIT:C40292"} ! glandular cell neoplasm
property_value: exactMatch DOID:2076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520082
property_value: exactMatch NCIT:C40292

[Term]
id: MONDO:0002199
name: benign mixed tumor of the vulva
def: "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended." [NCIT:C40302]
synonym: "benign mixed tumor of the vulva" EXACT [NCIT:C40302]
synonym: "chondroid syringoma of the vulva" EXACT [NCIT:C40302]
xref: DOID:2078 {source="MONDO:equivalentTo"}
xref: NCIT:C40302 {source="DOID:2078", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.91"}
xref: UMLS:C1511091 {source="DOID:2078", source="MONDO:equivalentTo", source="NCIT:C40302"}
is_a: MONDO:0000643 {source="NCIT:C40302"} ! vulvar benign neoplasm
property_value: exactMatch DOID:2078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511091
property_value: exactMatch NCIT:C40302

[Term]
id: MONDO:0002200
name: eccrine mixed tumor of skin
alt_id: MONDO:0006308
def: "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." [NCIT:P378]
synonym: "benign mixed tumor of skin" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of skin (chondroid syringoma)" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of the skin" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474]
synonym: "chondroid syringoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C4474]
synonym: "eccrine mixed tumor" EXACT [DOID:2079]
synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [DOID:2079]
synonym: "eccrine sweat gland mixed neoplasm" EXACT [MONDO:patterns/location]
synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079, NCIT:C4474]
synonym: "mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474]
xref: DOID:2079 {source="MONDO:equivalentTo"}
xref: EFO:1000385 {source="MONDO:equivalentTo"}
xref: NCIT:C4474 {source="DOID:2079", source="EFO:1000385", source="MONDO:equivalentTo"}
xref: SCTID:254720009 {source="DOID:2079", source="MONDO:equivalentTo"}
xref: UMLS:C0346026 {source="DOID:2079", source="NCIT:C4474", source="MONDO:equivalentTo"}
is_a: MONDO:0002090 {source="DOID:2079", source="MONDO:Redundant", source="MONDOLEX:0002200"} ! eccrine sweat gland neoplasm
is_a: MONDO:0021043 {source="MONDO:Redundant", source="MONDOLEX:0002200", source="NCIT:C4474"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/400144002
property_value: exactMatch DOID:2079
property_value: exactMatch http://identifiers.org/snomedct/254720009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346026
property_value: exactMatch NCIT:C4474

[Term]
id: MONDO:0002201
name: vulvar trichoepithelioma
def: "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin." [NCIT:C40314]
synonym: "mammalian vulva trichoblastoma" EXACT [MONDO:patterns/location]
synonym: "trichoblastoma of mammalian vulva" EXACT []
synonym: "vulvar trichoblastoma" EXACT [NCIT:C40314]
synonym: "vulvar trichoepithelioma" EXACT [NCIT:C40314]
xref: DOID:2080 {source="MONDO:equivalentTo"}
xref: NCIT:C40314 {source="MONDO:equivalentTo", source="DOID:2080", source="exact-label-match"}
xref: UMLS:C1520100 {source="NCIT:C40314", source="MONDO:equivalentTo", source="DOID:2080"}
is_a: MONDO:0000643 {source="DOID:2080", source="NCIT:C40314"} ! vulvar benign neoplasm
is_a: MONDO:0020593 ! trichoblastoma
property_value: exactMatch DOID:2080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520100
property_value: exactMatch NCIT:C40314

[Term]
id: MONDO:0002202
name: outlet dysfunction constipation
xref: DOID:2088 {source="MONDO:equivalentTo"}
xref: ICD10:K59.02 {source="DOID:2088", source="MONDO:equivalentTo"}
xref: ICD9:564.02 {source="DOID:2088"}
is_a: MONDO:0002203 {source="DOID:2088", source="ICD10:K59.02"} ! constipation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949134
property_value: exactMatch DOID:2088

[Term]
id: MONDO:0002203
name: constipation disorder
def: "Irregular and infrequent or difficult evacuation of the bowels." [NCIT:C37930]
synonym: "colonic inertia" RELATED [MESH:D003248]
synonym: "constipation" EXACT [HP:0002019]
synonym: "Dyschezia" RELATED [MESH:D003248]
xref: COHD:75860 {source="MONDO:equivalentTo"}
xref: DOID:2089 {source="MONDO:equivalentTo"}
xref: HP:0002019 {source="MONDO:otherHierarchy"}
xref: ICD10:K59.0 {source="DOID:2089", source="MONDO:equivalentTo"}
xref: ICD10:K59.00 {source="DOID:2089"}
xref: ICD9:564.0 {source="DOID:2089", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:564.00 {source="DOID:2089", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003248 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C37930 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:14760008 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0004880 {source="DOID:2089"} ! bowel dysfunction
property_value: closeMatch http://identifiers.org/snomedct/139356000
property_value: closeMatch http://identifiers.org/snomedct/139358004
property_value: closeMatch http://identifiers.org/snomedct/139359007
property_value: closeMatch http://identifiers.org/snomedct/162080004
property_value: closeMatch http://identifiers.org/snomedct/162082007
property_value: closeMatch http://identifiers.org/snomedct/162083002
property_value: closeMatch http://identifiers.org/snomedct/197123003
property_value: closeMatch http://identifiers.org/snomedct/363693003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009806
property_value: exactMatch DOID:2089
property_value: exactMatch http://identifiers.org/mesh/D003248
property_value: exactMatch http://identifiers.org/snomedct/14760008
property_value: exactMatch NCIT:C37930

[Term]
id: MONDO:0002204
name: transient arthritis
def: "Arthritis that is not permanent." [MONDO:cjm]
synonym: "transient arthropathy" BROAD [NCIT:C35761]
xref: DOID:2092 {source="MONDO:equivalentTo"}
xref: ICD10:M12.8 {source="DOID:2092"}
xref: ICD9:716.4 {source="DOID:2092"}
xref: ICD9:716.40 {source="MONDO:subClassOf", source="DOID:2092"}
xref: SCTID:6011000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C0152083 {source="MONDO:equivalentTo", source="NCIT:C35761", source="DOID:2092"}
xref: UMLS:C3887596 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001429 {source="MONDO:Redundant", source="MONDOLEX:0002204", source="linkedlifedata"} ! transient arthropathy
is_a: MONDO:0005578 ! arthritis
property_value: closeMatch http://identifiers.org/snomedct/201987005
property_value: closeMatch http://identifiers.org/snomedct/202019004
property_value: exactMatch DOID:2092
property_value: exactMatch http://identifiers.org/snomedct/6011000119108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887596

[Term]
id: MONDO:0002205
name: vulvar melanoma (disease)
def: "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." [NCIT:P378]
synonym: "malignant melanoma of vulva" EXACT [DOID:2093]
synonym: "mammalian vulva melanoma" EXACT []
synonym: "mammalian vulva melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "melanoma (disease) of mammalian vulva" EXACT []
synonym: "vulvar melanoma" EXACT [MONDO:ambiguous, NCIT:C40329]
xref: DOID:2093 {source="MONDO:equivalentTo"}
xref: HP:0030418 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C40329 {source="MONDO:equivalentTo", source="DOID:2093", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254896002 {source="MONDO:equivalentTo", source="DOID:2093", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0241989 {source="NCIT:C40329", source="MONDO:equivalentTo", source="DOID:2093"}
is_a: MONDO:0001528 {source="DOID:2093", source="NCIT:C40329", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0006320 {source="NCIT:C40329"} ! non-cutaneous melanoma
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: exactMatch DOID:2093
property_value: exactMatch http://identifiers.org/snomedct/254896002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241989
property_value: exactMatch NCIT:C40329

[Term]
id: MONDO:0002206
name: sweat gland cancer
def: "A malignant neoplasm that affects the sweat glands." [NCIT:C4810]
synonym: "cancer of sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sweat gland" EXACT [DOID:2095, MONDO:patterns/cancer, NCIT:C4810]
synonym: "malignant neoplasm of the sweat gland" EXACT [NCIT:C4810]
synonym: "malignant sweat gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4810]
synonym: "malignant tumor of sweat gland" EXACT [NCIT:C4810]
synonym: "malignant tumor of the sweat gland" EXACT [DOID:2095, NCIT:C4810]
synonym: "sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasms, malignant" EXACT [NCIT:C4810]
xref: DOID:2095 {source="MONDO:equivalentTo"}
xref: ICD10:C44 {source="DOID:2095"}
xref: NCIT:C4810 {source="MONDO:equivalentTo", source="DOID:2095"}
xref: UMLS:C1321904 {source="MONDO:equivalentTo", source="NCIT:C4810", source="DOID:2095"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C4810"} ! sweat gland neoplasm
is_a: MONDO:0002898 {source="DOID:2095", source="MONDO:Redundant", source="NCIT:C4810/inferred"} ! skin cancer
property_value: closeMatch http://identifiers.org/snomedct/188083002
property_value: closeMatch http://identifiers.org/snomedct/255095005
property_value: closeMatch http://identifiers.org/snomedct/32272007
property_value: closeMatch http://identifiers.org/snomedct/359719004
property_value: exactMatch DOID:2095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321904
property_value: exactMatch NCIT:C4810

[Term]
id: MONDO:0002207
name: vulval Paget disease
def: "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." [NCIT:P378]
synonym: "mammalian vulva Paget disease" EXACT [MONDO:patterns/location]
synonym: "Paget disease of the vulva" EXACT [NCIT:C4027]
synonym: "Paget's disease of the vulva" EXACT [NCIT:C4027]
synonym: "Paget's disease of vulva" EXACT [NCIT:C4027]
synonym: "vulva Paget's disease" EXACT [NCIT:C4027]
synonym: "vulval Paget disease" EXACT [DOID:2097]
synonym: "vulval Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "vulvar Paget's disease" EXACT [DOID:2097, NCIT:C4027]
xref: DOID:2097 {source="MONDO:equivalentTo"}
xref: ICD9:233.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4027 {source="MONDO:equivalentTo", source="DOID:2097", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254898001 {source="MONDO:equivalentTo", source="DOID:2097", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275217 {source="MONDO:equivalentTo", source="NCIT:C4027", source="DOID:2097"}
is_a: MONDO:0008177 {source="NCIT:C4027"} ! extramammary Paget disease
is_a: MONDO:0024336 {source="DOID:2097", source="MONDO:Redundant", source="NCIT:C4027/inferred"} ! vulvar adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/403948004
property_value: exactMatch DOID:2097
property_value: exactMatch http://identifiers.org/snomedct/254898001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275217
property_value: exactMatch NCIT:C4027

[Term]
id: MONDO:0002208
name: obsolete vulva adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0024336

[Term]
id: MONDO:0002209
name: heel spur
def: "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." [MESH:D036982]
synonym: "calcaneal spur" RELATED [DOID:210, ICD9CM_2006:726.73]
synonym: "calcaneus exostosis" EXACT [MONDO:patterns/location]
xref: COHD:73560 {source="MONDO:equivalentTo"}
xref: DOID:210 {source="MONDO:equivalentTo"}
xref: ICD10:M77.3 {source="MONDO:equivalentTo", source="DOID:210"}
xref: ICD10:M77.30 {source="DOID:210"}
xref: ICD9:726.73 {source="MONDO:equivalentTo", source="i2s", source="DOID:210"}
xref: MESH:D036982 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:210"}
xref: SCTID:55260003 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo", source="DOID:210"}
xref: UMLS:C0158322 {source="MONDO:equivalentTo", source="DOID:210"}
is_a: MONDO:0002181 {source="DOID:210", source="MONDO:Redundant", source="linkedlifedata"} ! exostosis
is_a: MONDO:0044989 ! foot disease
property_value: closeMatch http://identifiers.org/snomedct/156663001
property_value: closeMatch http://identifiers.org/snomedct/268090002
property_value: exactMatch DOID:210
property_value: exactMatch http://identifiers.org/mesh/D036982
property_value: exactMatch http://identifiers.org/snomedct/55260003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158322

[Term]
id: MONDO:0002210
name: obsolete vulva squamous cell carcinoma
synonym: "mammalian vulva squamous cell carcinoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0024609

[Term]
id: MONDO:0002211
name: B cell deficiency
def: "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." [NCIT:C4799]
comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18
synonym: "B cell (antibody) deficiencies" EXACT [DOID:2115]
synonym: "B-cell deficiency" EXACT [NCIT:C4799]
synonym: "deficiency of humoral immunity" EXACT [NCIT:C4799]
synonym: "immunoglobulin heavy chain deficiency" RELATED [DOID:2115]
synonym: "immunoglobulin heavy chain deletion" RELATED [DOID:2115]
xref: DOID:2115 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="DOID:2115"}
xref: NCIT:C4799 {source="MONDO:equivalentTo", source="NCIT:C4799"}
is_a: MONDO:0003778 {source="DOID:2115"} ! primary immunodeficiency disease
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0021094 {source="NCIT:C4799"} ! immunodeficiency disease
property_value: closeMatch http://identifiers.org/snomedct/190982008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154276
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0522274
property_value: exactMatch DOID:2115
property_value: exactMatch NCIT:C4799

[Term]
id: MONDO:0002212
name: pneumonic tularemia
def: "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing." [DOID:2122, http://www.cdc.gov/tularemia/signssymptoms/]
synonym: "bronchopneumonic tularemia" EXACT [DOID:2122]
synonym: "pneumonic tularaemia" EXACT [DOID:2122]
synonym: "pulmonary tularemia" EXACT [DOID:2122, ICD9CM_2006:021.2]
xref: DOID:2122 {source="MONDO:equivalentTo"}
xref: ICD10:A21.2 {source="DOID:2122"}
xref: ICD9:021.2 {source="DOID:2122", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:45556008 {source="DOID:2122", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0339946 {source="DOID:2122", source="MONDO:equivalentTo"}
is_a: MONDO:0018077 {source="DOID:2122", source="linkedlifedata"} ! tularemia
property_value: closeMatch http://identifiers.org/snomedct/186297007
property_value: exactMatch DOID:2122
property_value: exactMatch http://identifiers.org/snomedct/45556008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339946

[Term]
id: MONDO:0002213
name: obsolete tularemia
is_obsolete: true
replaced_by: MONDO:0018077

[Term]
id: MONDO:0002214
name: brain germinoma
def: "A germinoma (disease) that involves the brain." [MONDO:patterns/location]
synonym: "brain germinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "germinoma of brain" EXACT [NCIT:C6284]
synonym: "germinoma of the brain" EXACT [DOID:2127, NCIT:C6284]
synonym: "intracranial germinoma" BROAD [DOID:2127]
xref: DOID:2127 {source="MONDO:equivalentTo"}
xref: NCIT:C6284 {source="MONDO:kboom-pr-0.96/0.76/2.28", source="DOID:2127", source="MONDO:equivalentTo"}
xref: UMLS:C1332606 {source="NCIT:C6284", source="DOID:2127", source="MONDO:equivalentTo"}
is_a: MONDO:0001657 {source="DOID:2127", source="MONDO:Redundant", source="NCIT:C6284"} ! brain cancer
is_a: MONDO:0002999 {source="DOID:2127", source="MONDO:Redundant", source="NCIT:C6284/inferred"} ! central nervous system germinoma
property_value: exactMatch DOID:2127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332606
property_value: exactMatch NCIT:C6284

[Term]
id: MONDO:0002215
name: obsolete atypical teratoid rhabdoid tumor
is_obsolete: true
replaced_by: MONDO:0020560

[Term]
id: MONDO:0002216
name: brain sarcoma
def: "A sarcoma arising from the brain." [NCIT:C5154]
synonym: "brain sarcoma" EXACT [MONDO:patterns/location, NCIT:C5154]
synonym: "primary brain sarcoma" EXACT [NCIT:C5154]
synonym: "sarcoma of brain" EXACT [MONDO:patterns/sarcoma, NCIT:C5154]
synonym: "sarcoma of the brain" EXACT [DOID:2132, NCIT:C5154]
xref: DOID:2132 {source="MONDO:equivalentTo"}
xref: NCIT:C5154 {source="DOID:2132", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332607 {source="DOID:2132", source="NCIT:C5154", source="MONDO:equivalentTo"}
is_a: MONDO:0001657 {source="DOID:2132", source="MONDO:Redundant", source="NCIT:C5154"} ! brain cancer
is_a: MONDO:0002217 {source="DOID:2132", source="MONDO:Redundant", source="NCIT:C5154"} ! central nervous system sarcoma
property_value: exactMatch DOID:2132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332607
property_value: exactMatch NCIT:C5154

[Term]
id: MONDO:0002217
name: central nervous system sarcoma
def: "A sarcoma that arises from the central nervous system." [NCIT:C5153]
synonym: "central nervous system sarcoma" EXACT [MONDO:patterns/location, NCIT:C5153]
synonym: "CNS sarcoma" EXACT [NCIT:C5153]
synonym: "sarcoma of central nervous system" EXACT [MONDO:patterns/sarcoma, NCIT:C5153]
synonym: "sarcoma of CNS" EXACT [NCIT:C5153]
synonym: "sarcoma of the central nervous system" EXACT [NCIT:C5153]
synonym: "sarcoma of the CNS" EXACT [DOID:2133, NCIT:C5153]
xref: DOID:2133 {source="MONDO:equivalentTo"}
xref: NCIT:C5153 {source="DOID:2133", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332892 {source="DOID:2133", source="NCIT:C5153", source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="DOID:2133", source="MONDO:Redundant", source="NCIT:C5153/inferred"} ! central nervous system cancer
is_a: MONDO:0018078 {source="NCIT:C5153"} ! soft tissue sarcoma
property_value: exactMatch DOID:2133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332892
property_value: exactMatch NCIT:C5153

[Term]
id: MONDO:0002218
name: temporal lobe cancer
def: "A cancer that involves the temporal lobe." [MONDO:patterns/location]
synonym: "cancer of temporal lobe" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of temporal lobe" EXACT [DOID:2135, MONDO:patterns/cancer]
synonym: "malignant temporal lobe neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of temporal lobe" EXACT EXCLUDE [DOID:2135]
synonym: "temporal lobe cancer" EXACT [MONDO:patterns/location]
synonym: "temporal lobe neoplasm" RELATED [DOID:2135]
synonym: "tumor of temporal lobe" EXACT EXCLUDE [DOID:2135]
xref: COHD:4180907 {source="MONDO:equivalentTo"}
xref: DOID:2135 {source="MONDO:equivalentTo", source="MONDO:placement-based-on-DOID-graph"}
xref: ICD10:C71.2 {source="DOID:2135", source="MONDO:equivalentTo"}
xref: ICD9:191.2 {source="DOID:2135", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363468009 {source="DOID:2135", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0153636 {source="MEDGEN:kboom-pr97-c98", source="DOID:2135", source="MONDO:equivalentTo"}
is_a: MONDO:0002731 {source="DOID:2135", source="MONDO:Redundant", source="linkedlifedata"} ! cerebral hemisphere cancer
is_a: MONDO:0021372 {source="MONDO:Redundant", source="linkedlifedata"} ! neoplasm of temporal lobe
property_value: closeMatch http://identifiers.org/snomedct/188291000
property_value: closeMatch http://identifiers.org/snomedct/94086000
property_value: exactMatch DOID:2135
property_value: exactMatch http://identifiers.org/snomedct/363468009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153636

[Term]
id: MONDO:0002219
name: paraurethral gland neoplasm
def: "A neoplasm (disease) that involves the paraurethral gland." [MONDO:patterns/location]
synonym: "neoplasm of paraurethral gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of paraurethral glands" EXACT [DOID:2139]
synonym: "paraurethral gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "paraurethral gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of paraurethral gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the paraurethral gland" EXACT [DOID:2139, NCIT:C4378]
xref: DOID:2139 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:126884005 {source="MONDO:equivalentTo", source="DOID:2139", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0341766 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:2139"}
is_a: MONDO:0021049 {source="MONDO:Redundant", source="linkedlifedata"} ! vulvar neoplasm
property_value: exactMatch DOID:2139
property_value: exactMatch http://identifiers.org/snomedct/126884005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341766

[Term]
id: MONDO:0002220
name: tooth hard tissue disease
synonym: "disorder of hard tissues of teeth" EXACT []
synonym: "teeth hard tissue disease" RELATED [DOID:214]
synonym: "teeth hard tissue diseases" RELATED []
xref: DOID:214 {source="MONDO:equivalentTo"}
xref: ICD10:K03 {source="MONDO:equivalentTo"}
xref: ICD10:K03.8 {source="DOID:214"}
xref: ICD10:K03.89 {source="DOID:214"}
xref: ICD9:521.8 {source="DOID:214"}
xref: ICD9:521.89 {source="DOID:214"}
xref: SCTID:46557008 {source="MONDO:equivalentTo"}
xref: UMLS:C0155926 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0006999 {source="DOID:214", source="linkedlifedata"} ! tooth disease
property_value: closeMatch http://identifiers.org/snomedct/197505001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029770
property_value: exactMatch DOID:214
property_value: exactMatch http://identifiers.org/snomedct/46557008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155926

[Term]
id: MONDO:0002221
name: urethral urothelial papilloma
def: "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003" [NCIT:C5061]
synonym: "urethra urothelial papilloma" EXACT [MONDO:patterns/location]
synonym: "urethral urothelial papilloma" EXACT [NCIT:C5061]
xref: DOID:2140 {source="MONDO:equivalentTo"}
xref: NCIT:C5061 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:2140"}
xref: UMLS:C1519826 {source="MONDO:equivalentTo", source="DOID:2140", source="NCIT:C5061"}
is_a: MONDO:0004041 {source="MONDO:Redundant", source="MONDOLEX:0002221", source="NCIT:C5061"} ! urothelial papilloma
is_a: MONDO:0004177 {source="DOID:2140", source="MONDO:Redundant", source="NCIT:C5061"} ! benign urethral neoplasm
property_value: exactMatch DOID:2140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519826
property_value: exactMatch NCIT:C5061

[Term]
id: MONDO:0002222
name: urethra leiomyoma
def: "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of the urethra" EXACT [DOID:2142, NCIT:C6171]
synonym: "leiomyoma of urethra" EXACT [NCIT:C6171]
synonym: "urethra leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6171]
synonym: "urethral leiomyoma" EXACT [NCIT:C6171]
xref: DOID:2142 {source="MONDO:equivalentTo"}
xref: NCIT:C6171 {source="DOID:2142", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336888 {source="DOID:2142", source="MONDO:equivalentTo", source="NCIT:C6171"}
is_a: MONDO:0001572 {source="DOID:2142", source="MONDO:Redundant", source="NCIT:C6171"} ! leiomyoma
is_a: MONDO:0004177 {source="DOID:2142", source="MONDO:Redundant", source="NCIT:C6171"} ! benign urethral neoplasm
property_value: exactMatch DOID:2142
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336888
property_value: exactMatch NCIT:C6171

[Term]
id: MONDO:0002223
name: ovarian malignant mesothelioma
def: "A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement." [NCIT:C40444]
synonym: "malignant mesothelioma (disease) of ovary" EXACT []
synonym: "ovarian malignant mesothelioma" EXACT [NCIT:C40444]
synonym: "ovary malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:2143 {source="MONDO:equivalentTo"}
xref: NCIT:C40444 {source="DOID:2143", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518721 {source="DOID:2143", source="MONDO:equivalentTo", source="NCIT:C40444"}
is_a: MONDO:0006292 {source="MONDO:Redundant", source="MONDOLEX:0002223", source="NCIT:C40444"} ! malignant mesothelioma (disease)
is_a: MONDO:0008170 {source="DOID:2143", source="MONDO:Redundant", source="NCIT:C40444"} ! ovarian cancer
property_value: exactMatch DOID:2143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518721
property_value: exactMatch NCIT:C40444

[Term]
id: MONDO:0002224
name: malignant ovarian cyst
def: "A cystic cancerous tumor arising from the ovary." [NCIT:C3843]
synonym: "malignant ovarian cyst" EXACT [NCIT:C3843]
synonym: "malignant ovarian cyst (disease)" EXACT []
synonym: "ovarian cyst (disease), malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:2145 {source="MONDO:equivalentTo"}
xref: NCIT:C3843 {source="DOID:2145", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0235770 {source="DOID:2145", source="MONDO:equivalentTo", source="NCIT:C3843"}
is_a: MONDO:0003282 ! ovarian cyst (disease)
is_a: MONDO:0008170 {source="DOID:2145", source="NCIT:C3843"} ! ovarian cancer
property_value: exactMatch DOID:2145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235770
property_value: exactMatch NCIT:C3843

[Term]
id: MONDO:0002225
name: ovarian sarcoma
def: "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor." [NCIT:C8267]
synonym: "ovarian sarcoma" EXACT [NCIT:C8267]
synonym: "ovary sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of ovary" EXACT [DOID:2146, MONDO:patterns/sarcoma, NCIT:C8267]
synonym: "sarcoma of the ovary" EXACT [NCIT:C8267]
xref: DOID:2146 {source="MONDO:equivalentTo"}
xref: NCIT:C8267 {source="DOID:2146", source="MONDO:equivalentTo"}
xref: SCTID:423627007 {source="DOID:2146", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0280746 {source="NCIT:C8267", source="DOID:2146", source="MONDO:equivalentTo"}
is_a: MONDO:0008170 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267", source="linkedlifedata"} ! ovarian cancer
is_a: MONDO:0018078 {source="NCIT:C8267"} ! soft tissue sarcoma
property_value: exactMatch DOID:2146
property_value: exactMatch http://identifiers.org/snomedct/423627007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280746
property_value: exactMatch NCIT:C8267

[Term]
id: MONDO:0002226
name: tuberculous oophoritis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: DOID:2148 {source="MONDO:equivalentTo"}
xref: ICD10:A18.17 {source="DOID:2148"}
xref: ICD9:016.6 {source="DOID:2148"}
xref: ICD9:016.60 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:84194006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0275932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006002 {source="DOID:2148", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis
is_a: MONDO:0006877 ! oophoritis
property_value: closeMatch http://identifiers.org/snomedct/186242002
property_value: closeMatch http://identifiers.org/snomedct/186243007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152828
property_value: exactMatch DOID:2148
property_value: exactMatch http://identifiers.org/snomedct/84194006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275932

[Term]
id: MONDO:0002227
name: ovarian lymphoma
def: "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." [NCIT:C40021]
synonym: "lymphoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian lymphoma" EXACT [NCIT:C40021]
synonym: "ovary lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary ovarian lymphoma" EXACT [NCIT:C40021]
xref: DOID:2150 {source="MONDO:equivalentTo"}
xref: NCIT:C40021 {source="MONDO:equivalentTo", source="DOID:2150", source="exact-label-match"}
xref: UMLS:C1518720 {source="MONDO:equivalentTo", source="NCIT:C40021", source="DOID:2150"}
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C40021/inferred", source="OWLReasoner:2017"} ! lymphoma
is_a: MONDO:0008170 {source="DOID:2150", source="NCIT:C40021"} ! ovarian cancer
property_value: exactMatch DOID:2150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518720
property_value: exactMatch NCIT:C40021

[Term]
id: MONDO:0002228
name: obsolete malignant ovarian surface epithelial-stromal neoplasm
is_obsolete: true
replaced_by: MONDO:0018364

[Term]
id: MONDO:0002229
name: ovarian epithelial tumor
def: "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." [NCIT:C4381]
synonym: "epithelial neoplasm of ovary" EXACT [NCIT:C4381]
synonym: "epithelial neoplasm of the ovary" EXACT [NCIT:C4381]
synonym: "epithelial tumor of ovary" EXACT [DOID:2152, NCIT:C4381]
synonym: "epithelial tumor of the ovary" EXACT [NCIT:C4381]
synonym: "ovarian epithelial tumor" EXACT [NCIT:C4381]
synonym: "ovarian surface epithelial-stromal tumor" EXACT [DOID:2152, NCIT:C4381]
synonym: "ovarian surface-epithelial stromal neoplasm" EXACT [NCIT:C4381]
synonym: "ovary epithelial cancer" RELATED [DOID:2152]
synonym: "ovary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "OVT" RELATED [ONCOTREE:OVT]
xref: DOID:2152 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4381 {source="MONDO:equivalentTo", source="DOID:2152"}
xref: ONCOTREE:OVT {source="MONDO:equivalentTo"}
xref: SCTID:237057005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.39", source="DOID:2152"}
xref: UMLS:C0341823 {source="NCIT:C4381", source="MONDO:equivalentTo", source="DOID:2152"}
is_a: MONDO:0005626 {source="MONDO:Redundant", source="MONDOLEX:0002229", source="NCIT:C4381"} ! epithelial neoplasm
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C4381", source="linkedlifedata"} ! ovarian neoplasm
property_value: exactMatch DOID:2152
property_value: exactMatch http://identifiers.org/snomedct/237057005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341823
property_value: exactMatch NCIT:C4381

[Term]
id: MONDO:0002230
name: ovarian Wilms tumor
def: "An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass." [NCIT:C40443]
synonym: "ovarian Wilms tumor" EXACT [NCIT:C40443]
synonym: "ovarian Wilms' cancer" RELATED [DOID:2153]
synonym: "ovarian Wilms' tumor" EXACT [DOID:2153, NCIT:C40443]
synonym: "ovary Wilms tumor" EXACT [MONDO:patterns/location]
xref: DOID:2153 {source="MONDO:equivalentTo"}
xref: NCIT:C40443 {source="DOID:2153", source="MONDO:equivalentTo"}
xref: UMLS:C1518746 {source="DOID:2153", source="MONDO:equivalentTo", source="NCIT:C40443"}
is_a: MONDO:0006058 {source="MONDO:Redundant", source="NCIT:C40443"} ! Wilms tumor
is_a: MONDO:0008170 {source="DOID:2153", source="MONDO:Redundant", source="NCIT:C40443"} ! ovarian cancer
property_value: exactMatch DOID:2153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518746
property_value: exactMatch NCIT:C40443

[Term]
id: MONDO:0002231
name: obsolete malignant ovarian germ cell neoplasm
is_obsolete: true
replaced_by: MONDO:0018171

[Term]
id: MONDO:0002232
name: nasal cavity disease
def: "A disease involving the nasal cavity." [MONDO:DesignPattern]
synonym: "disease of nasal cavity" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasal cavity" EXACT []
synonym: "disorder of nasal cavity" EXACT [MONDO:patterns/location_top]
synonym: "disorder of nasal cavity" RELATED [MONDO:patterns/location_top]
synonym: "nasal cavity disease" EXACT [MONDO:patterns/location, NCIT:C27102]
synonym: "nasal cavity disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nasal cavity disorder" EXACT [NCIT:C27102]
xref: COHD:439407 {source="MONDO:equivalentTo"}
xref: DOID:2163 {source="MONDO:equivalentTo"}
xref: NCIT:C27102 {source="MONDO:equivalentTo", source="DOID:2163", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:232340005 {source="MONDO:equivalentTo", source="DOID:2163"}
xref: UMLS:C0339820 {source="NCIT:C27102", source="MONDO:equivalentTo", source="DOID:2163"}
is_a: MONDO:0002436 {source="DOID:2163", source="MONDO:Redundant", source="linkedlifedata"} ! nasal disorder
is_a: MONDO:0004867 {source="DOID:2163/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! upper respiratory tract disease
property_value: closeMatch http://identifiers.org/snomedct/195823002
property_value: closeMatch http://identifiers.org/snomedct/232359007
property_value: exactMatch DOID:2163
property_value: exactMatch http://identifiers.org/snomedct/232340005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339820
property_value: exactMatch NCIT:C27102

[Term]
id: MONDO:0002233
name: enamel caries
def: "A dental caries that involves the enamel." [MONDO:patterns/location]
synonym: "dental caries limited to enamel" EXACT [DOID:217, ICD9CM_2006:521.01]
synonym: "dental caries of enamel" EXACT [MONDO:design_pattern]
synonym: "enamel dental caries" EXACT [MONDO:patterns/location]
synonym: "primary dental caries" EXACT [DOID:217]
synonym: "simple dental cavity" EXACT [DOID:217]
xref: COHD:441049 {source="MONDO:equivalentTo"}
xref: DOID:217 {source="MONDO:equivalentTo"}
xref: ICD9:521.01 {source="DOID:217", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:80353004 {source="DOID:217", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0266853 {source="DOID:217", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005276 {source="DOID:217", source="MONDO:Redundant", source="linkedlifedata"} ! dental caries
property_value: closeMatch http://identifiers.org/snomedct/109570002
property_value: closeMatch http://identifiers.org/snomedct/19437001
property_value: closeMatch http://identifiers.org/snomedct/196303003
property_value: exactMatch DOID:217
property_value: exactMatch http://identifiers.org/snomedct/80353004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266853

[Term]
id: MONDO:0002234
name: vaginitis (disease)
def: "A non-infectious or infectious inflammatory process affecting the vagina." [NCIT:C26911]
synonym: "inflammation of vagina" EXACT []
synonym: "vagina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "vaginal Inflammation" EXACT [NCIT:C26911]
synonym: "vaginal inflammation" EXACT [NCIT:C26911]
synonym: "vaginitis" EXACT [MONDO:ambiguous, NCIT:C26911]
xref: DOID:2170 {source="MONDO:equivalentTo"}
xref: EFO:0005757 {source="MONDO:equivalentTo"}
xref: HP:0030683 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:616.1 {source="DOID:2170"}
xref: ICD9:616.10 {source="DOID:2170"}
xref: MESH:D014627 {source="MONDO:equivalentTo", source="DOID:2170", source="MONDO:ontobio"}
xref: NCIT:C26911 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2170"}
xref: SCTID:30800001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2170"}
xref: UMLS:C0042267 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:2170", source="NCIT:C26911"}
is_a: MONDO:0001433 {source="DOID:2170", source="MESH:D014627", source="MONDO:Redundant", source="NCIT:C26911/inferred", source="linkedlifedata"} ! vaginal disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155981006
property_value: closeMatch http://identifiers.org/snomedct/198212006
property_value: closeMatch http://identifiers.org/snomedct/198213001
property_value: closeMatch http://identifiers.org/snomedct/198223005
property_value: closeMatch http://identifiers.org/snomedct/266655004
property_value: closeMatch http://identifiers.org/snomedct/393596009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042268
property_value: exactMatch DOID:2170
property_value: exactMatch http://identifiers.org/mesh/D014627
property_value: exactMatch http://identifiers.org/snomedct/30800001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042267
property_value: exactMatch NCIT:C26911

[Term]
id: MONDO:0002235
name: eyelid neoplasm
def: "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." [NCIT:C3031]
subset: ordo_group_of_disorders {source="Orphanet:98580"}
synonym: "eyelid neoplasm" EXACT [NCIT:C3031]
synonym: "eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eyelid tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "neoplasm of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "neoplasm of the eyelid" EXACT [NCIT:C3031]
synonym: "palpebral tumor" EXACT [MONDO:0020171]
synonym: "tumor of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "tumor of the eyelid" EXACT [DOID:2173, NCIT:C3031]
xref: DOID:2173 {source="MONDO:equivalentTo"}
xref: EFO:1000934 {source="MONDO:equivalentTo"}
xref: MESH:D005142 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2173"}
xref: NCIT:C3031 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:2173"}
xref: Orphanet:98580 {source="MONDO:equivalentTo"}
xref: SCTID:278697001 {source="MONDO:equivalentTo", source="DOID:2173", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0015424 {source="NCIT:C3031", source="MONDO:equivalentTo", source="Orphanet:98580", source="DOID:2173"}
is_a: MONDO:0002531 {source="DOID:2173", source="EFO:1000934", source="MONDO:Entailed"} ! skin neoplasm
is_a: MONDO:0003382 {source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="OWLReasoner:2017", source="Orphanet:98580", source="indirect", source="linkedlifedata"} ! eyelid disease
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3031", source="indirect"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020151"} ! rare
property_value: exactMatch DOID:2173
property_value: exactMatch http://identifiers.org/mesh/D005142
property_value: exactMatch http://identifiers.org/snomedct/278697001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015424
property_value: exactMatch NCIT:C3031
property_value: exactMatch Orphanet:98580

[Term]
id: MONDO:0002236
name: ocular cancer
def: "A benign or malignant neoplasm affecting the structures of the eye." [NCIT:P378]
comment: Editor note: check to see whether structure is eye or eye + adnexa
synonym: "cancer of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767]
synonym: "cancer of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the eye" EXACT [NCIT:C4767]
synonym: "eye cancer" EXACT [MONDO:patterns/location, NCIT:C4767]
synonym: "eye neoplasm" BROAD [CSP2005:2018-3273, DOID:2174]
synonym: "eye neoplasm, malignant" EXACT [NCIT:C4767]
synonym: "eyeball of camera-type eye cancer" EXACT []
synonym: "malignant eye cancer, NOS" RELATED EXCLUDE [NCIT:C4767]
synonym: "malignant eye neoplasm" EXACT [DOID:2174, MONDO:patterns/cancer, NCIT:C4767]
synonym: "malignant eye tumor" EXACT [NCIT:C4767]
synonym: "malignant eyeball of camera-type eye neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767]
synonym: "malignant neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the eye" EXACT [NCIT:C4767]
synonym: "malignant ocular neoplasm" EXACT [NCIT:C4767]
synonym: "malignant ocular tumor" EXACT [NCIT:C4767]
synonym: "malignant tumor of eye" EXACT [NCIT:C4767]
synonym: "malignant tumor of the eye" EXACT [NCIT:C4767]
synonym: "neoplasm of eye" BROAD [DOID:2174]
synonym: "neoplasm of eye proper" RELATED [DOID:2174]
synonym: "ocular tumor" BROAD [DOID:2174, NCIT:C3030]
xref: DOID:2174 {source="MONDO:equivalentTo"}
xref: ICD9:190.8 {source="DOID:2174"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005134 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2174"}
xref: NCIT:C4767 {source="MONDO:equivalentTo", source="kboom:pr0.77-conf4.77"}
xref: SCTID:371486001 {source="MONDO:kboom-pr-0.90/0.75/0.51", source="MONDO:equivalentTo", source="DOID:2174"}
is_a: MONDO:0000649 {source="DOID:2174", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer
is_a: MONDO:0005627 ! head and neck cancer
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4767"} ! eye neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126995000
property_value: closeMatch http://identifiers.org/snomedct/188277006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015414
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153632
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496836
property_value: exactMatch DOID:2174
property_value: exactMatch http://identifiers.org/mesh/D005134
property_value: exactMatch http://identifiers.org/snomedct/371486001
property_value: exactMatch NCIT:C4767

[Term]
id: MONDO:0002237
name: carbuncle
def: "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." [MESH:D002270]
synonym: "carbuncle and furuncle of any part of face except eye" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of buttock" EXACT [DOID:2176, ICD9CM_2006:680.5]
synonym: "carbuncle and furuncle of face" EXACT [DOID:2176, ICD9CM_2006:680.0]
synonym: "carbuncle and furuncle of foot" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of gluteal region" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of hand" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of leg except foot" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of neck" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of trunk" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [DOID:2176]
xref: DOID:2176 {source="MONDO:equivalentTo"}
xref: EFO:1000674 {source="MONDO:equivalentTo"}
xref: ICD9:680.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:680.9 {source="DOID:2176", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002270 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:416893007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.29"}
xref: UMLS:C0007078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002922 {source="DOID:2176"} ! pyoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007079
property_value: exactMatch DOID:2176
property_value: exactMatch http://identifiers.org/mesh/D002270
property_value: exactMatch http://identifiers.org/snomedct/416893007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007078

[Term]
id: MONDO:0002238
name: ascending colon cancer
def: "A malignant neoplasm involving the ascending colon." [MONDO:DesignPattern]
synonym: "ascending colon cancer" EXACT [MONDO:patterns/location]
synonym: "Ca ascending colon" EXACT [DOID:218]
synonym: "cancer of ascending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant ascending colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ascending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of right colon" EXACT [DOID:218, MTHICD9_2006:153.6]
synonym: "malignant tumor of ascending colon" EXACT [DOID:218]
xref: DOID:218 {source="MONDO:equivalentTo"}
xref: ICD10:C18.2 {source="DOID:218"}
xref: ICD9:153.6 {source="DOID:218", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363412000 {source="DOID:218", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153439 {source="DOID:218", source="MONDO:equivalentTo"}
is_a: MONDO:0021063 {source="DOID:218", source="MONDO:Redundant", source="MONDOLEX:0002238", source="linkedlifedata"} ! malignant colon neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154460005
property_value: closeMatch http://identifiers.org/snomedct/269539001
property_value: closeMatch http://identifiers.org/snomedct/93683002
property_value: exactMatch DOID:218
property_value: exactMatch http://identifiers.org/snomedct/363412000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153439

[Term]
id: MONDO:0002239
name: post-surgical hypoinsulinemia
synonym: "postsurgical hypoinsulinemia" EXACT [DOID:2181, ICD9CM_2006:251.3]
xref: COHD:192591 {source="MONDO:equivalentTo"}
xref: DOID:2181 {source="MONDO:equivalentTo"}
xref: ICD10:E89.1 {source="DOID:2181"}
xref: ICD9:251.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:2181"}
xref: SCTID:190437000 {source="MONDO:equivalentTo", source="DOID:2181", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154190 {source="MONDO:equivalentTo", source="DOID:2181"}
is_a: MONDO:0001933 {source="DOID:2181", source="linkedlifedata/inferred"} ! endocrine pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/78483000
property_value: exactMatch DOID:2181
property_value: exactMatch http://identifiers.org/snomedct/190437000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154190

[Term]
id: MONDO:0002240
name: acute perichondritis of pinna
def: "Acute form of perichondritis of auricle." [MONDO:patterns/acute]
synonym: "acute perichondritis of auricle" EXACT [MONDO:design_pattern]
synonym: "perichondritis of auricle, acute" EXACT [MONDO:patterns/acute]
xref: COHD:132333 {source="MONDO:equivalentTo"}
xref: DOID:221 {source="MONDO:equivalentTo"}
xref: ICD9:380.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:221"}
xref: SCTID:45855004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10", source="DOID:221"}
xref: UMLS:C0155390 {source="MONDO:equivalentTo", source="DOID:221"}
is_a: MONDO:0001051 ! acute otitis externa
is_a: MONDO:0002246 {source="DOID:221", source="MONDO:Redundant", source="linkedlifedata"} ! perichondritis of auricle
property_value: exactMatch DOID:221
property_value: exactMatch http://identifiers.org/snomedct/45855004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155390

[Term]
id: MONDO:0002241
name: factor XIII deficiency
def: "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." [MONDO:cjm]
synonym: "FXIIID" EXACT [MONDO:cjm]
is_a: MONDO:0002242 {source="MONDO:cjm"} ! coagulation protein disease
is_a: MONDO:0044976 ! disease of catalytic activity

[Term]
id: MONDO:0002242
name: coagulation protein disease
def: "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." [NCIT:C27215]
synonym: "coagulation factor deficiency" EXACT [NCIT:C27215]
synonym: "coagulation factor deficiency syndrome" EXACT [NCIT:C27215]
xref: DOID:2212 {source="MONDO:equivalentTo"}
xref: MESH:D020147 {source="DOID:2212", source="MONDO:equivalentTo"}
xref: NCIT:C27215 {source="MONDO:equivalentTo"}
xref: SCTID:86075001 {source="MONDO:equivalentTo"}
xref: UMLS:C0600503 {source="DOID:2212", source="MONDO:equivalentTo"}
is_a: MONDO:0001531 {source="DOID:2212", source="MESH:D020147", source="NCIT:C27215"} ! blood coagulation disease
property_value: exactMatch DOID:2212
property_value: exactMatch http://identifiers.org/mesh/D020147
property_value: exactMatch http://identifiers.org/snomedct/86075001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600503
property_value: exactMatch NCIT:C27215

[Term]
id: MONDO:0002243
name: hemorrhagic disease
def: "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." [MESH:D006474]
synonym: "bleeding diathesis" EXACT [NCIT:C115221]
synonym: "bleeding disorder" EXACT [MONDO:cjm]
synonym: "bleeding predisposition" EXACT [NCIT:C115221]
synonym: "bleeding tendency" EXACT [NCIT:C115221]
synonym: "hemorrhagic diathesis" EXACT [DOID:2213, MTHICD9_2006:287.9]
synonym: "hemorrhagic disease" EXACT [DOID:2213]
xref: DOID:2213 {source="MONDO:equivalentTo"}
xref: ICD10:D69.9 {source="DOID:2213"}
xref: ICD9:287.9 {source="DOID:2213"}
xref: MESH:D006474 {source="DOID:2213", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C115221 {source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="DOID:2213/inferred", source="MESH:D006474", source="NCIT:C115221/inferred"} ! hematologic disease
property_value: closeMatch http://identifiers.org/snomedct/191327000
property_value: closeMatch http://identifiers.org/snomedct/191331006
property_value: closeMatch http://identifiers.org/snomedct/191437009
property_value: closeMatch http://identifiers.org/snomedct/268884000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019087
property_value: exactMatch DOID:2213
property_value: exactMatch http://identifiers.org/mesh/D006474
property_value: exactMatch NCIT:C115221

[Term]
id: MONDO:0002244
name: factor VII deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." [NCIT:C131631]
synonym: "deficiency, stable" EXACT [DOID:2215, MTHICD9_2006:286.3]
synonym: "F7 deficiency" EXACT [OMIM:227500]
synonym: "factor 7 deficiency" EXACT [MESH:D005168]
synonym: "factor VII deficiency" EXACT [DOID:2215]
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005168 {source="MONDO:equivalentTo"}
xref: SCTID:37193007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.65"}
xref: UMLS:C0015503 {source="MONDO:equivalentTo"}
is_a: MONDO:0002242 {source="MESH:D005168"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005168"} ! hemorrhagic disease
property_value: exactMatch http://identifiers.org/mesh/D005168
property_value: exactMatch http://identifiers.org/snomedct/37193007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015503

[Term]
id: MONDO:0002245
name: blood platelet disease
def: "Disorders caused by abnormalities in platelet count or function." [MESH:D001791]
synonym: "platelet abnormality" EXACT [NCIT:C131634]
synonym: "platelet disorder" EXACT [MONDO:cjm, NCIT:C131634]
synonym: "thrombocytopathy" RELATED []
xref: MESH:D001791 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: NCIT:C131634 {source="MONDO:equivalentTo"}
xref: SCTID:22716005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
is_a: MONDO:0005570 {source="MESH:D001791", source="linkedlifedata"} ! hematologic disease
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: exactMatch http://identifiers.org/mesh/D001791
property_value: exactMatch http://identifiers.org/snomedct/22716005
property_value: exactMatch NCIT:C131634

[Term]
id: MONDO:0002246
name: perichondritis of auricle
def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [DOID:222, http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm]
synonym: "perichondritis and chondritis of pinna" EXACT [DOID:222, ICD9CM_2006:380.0]
synonym: "perichondritis of pinna" EXACT [DOID:222]
synonym: "perichondritis of pinna, unspecified" EXACT [DOID:222, ICD9CM_2006:380.00]
xref: COHD:136710 {source="MONDO:equivalentTo"}
xref: DOID:222 {source="MONDO:equivalentTo"}
xref: ICD10:H61.0 {source="DOID:222"}
xref: ICD10:H61.00 {source="DOID:222"}
xref: ICD10:H61.009 {source="DOID:222"}
xref: ICD9:380.0 {source="DOID:222"}
xref: ICD9:380.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:222"}
xref: SCTID:34129005 {source="MONDO:equivalentTo", source="DOID:222", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155389 {source="MONDO:equivalentTo", source="DOID:222"}
is_a: MONDO:0004795 {source="DOID:222"} ! otitis externa
property_value: closeMatch http://identifiers.org/snomedct/155210008
property_value: closeMatch http://identifiers.org/snomedct/194194008
property_value: closeMatch http://identifiers.org/snomedct/194197001
property_value: closeMatch http://identifiers.org/snomedct/236871000119109
property_value: exactMatch DOID:222
property_value: exactMatch http://identifiers.org/snomedct/34129005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155389

[Term]
id: MONDO:0002247
name: factor X deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." [NCIT:C131632]
xref: MESH:D005171 {source="MONDO:equivalentTo"}
xref: NCIT:C131632 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.87/0.67"}
is_a: MONDO:0002242 {source="MESH:D005171"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005171"} ! hemorrhagic disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/D005171
property_value: exactMatch NCIT:C131632

[Term]
id: MONDO:0002248
name: obsolete myeloproliferative neoplasm
is_obsolete: true
replaced_by: MONDO:0020076

[Term]
id: MONDO:0002249
name: thrombocytosis disease
def: "A disease characterized by higher than normal platelet counts in the peripheral blood." [MONDO:cjm]
synonym: "elevated Platelet count" EXACT [NCIT:C35530]
synonym: "Platelet count increased" EXACT [NCIT:C35530]
synonym: "Thrombocythaemia" EXACT [DOID:2228, OMIMPS:187950]
synonym: "thrombocytosis" RELATED [DOID:2228]
xref: DOID:2228 {source="MONDO:equivalentTo"}
xref: ICD9:289.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013922 {source="MONDO:equivalentTo", source="DOID:2228", source="MONDO:ontobio"}
xref: NCIT:C35530 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:2228", source="exact-label-match"}
xref: SCTID:6631009 {source="MONDO:equivalentTo", source="DOID:2228", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0836924 {source="MONDO:equivalentTo", source="DOID:2228"}
is_a: MONDO:0002245 {source="DOID:2228", source="MESH:D013922", source="linkedlifedata"} ! blood platelet disease
property_value: closeMatch http://identifiers.org/snomedct/142970009
property_value: closeMatch http://identifiers.org/snomedct/165557006
property_value: closeMatch http://identifiers.org/snomedct/415115007
property_value: closeMatch http://identifiers.org/snomedct/79574003
property_value: exactMatch DOID:2228
property_value: exactMatch http://identifiers.org/mesh/D013922
property_value: exactMatch http://identifiers.org/snomedct/6631009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0836924
property_value: exactMatch NCIT:C35530

[Term]
id: MONDO:0002250
name: basilar artery insufficiency
def: "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." [NCIT:C34413]
synonym: "basilar artery syndrome" EXACT [DOID:223, ICD9CM_2006:435.0, NCIT:C34413]
xref: COHD:374055 {source="MONDO:equivalentTo"}
xref: DOID:223 {source="MONDO:equivalentTo"}
xref: ICD9:435.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:223"}
xref: NCIT:C34413 {source="MONDO:equivalentTo", source="DOID:223", source="MONDO:kboom-pr-1.00/0.91/29.55"}
xref: SCTID:64009001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.83/1.09", source="DOID:223"}
xref: UMLS:C0004812 {source="MONDO:equivalentTo", source="NCIT:C34413", source="DOID:223"}
is_a: MONDO:0001631 ! vertebral artery insufficiency
is_a: MONDO:0005042 ! head disease
property_value: closeMatch http://identifiers.org/snomedct/195197005
property_value: exactMatch DOID:223
property_value: exactMatch http://identifiers.org/snomedct/64009001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004812
property_value: exactMatch NCIT:C34413

[Term]
id: MONDO:0002251
name: hepatitis
def: "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." [NCIT:P378]
synonym: "acute and subacute liver necrosis" NARROW [DOID:2237]
synonym: "acute hepatitis" NARROW [DOID:2237]
synonym: "acute/subac. necrosis of liver" NARROW [DOID:2237]
synonym: "animal hepatitis" NARROW [DOID:2237]
synonym: "chronic hepatitis" NARROW [DOID:2237]
synonym: "chronic persistent hepatitis" NARROW [DOID:2237]
synonym: "Hepatitides" RELATED [MESH:D006505]
synonym: "Hepatitis" EXACT [NCIT:C3095]
synonym: "hepatitis" EXACT [NCIT:C3095]
synonym: "inflammation of liver" EXACT []
synonym: "liver inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2237 {source="MONDO:equivalentTo"}
xref: EFO:0008496 {source="MONDO:equivalentTo"}
xref: ICD10:K73.9 {source="DOID:2237"}
xref: ICD9:570 {source="DOID:2237", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:571.4 {source="DOID:2237"}
xref: ICD9:571.40 {source="DOID:2237"}
xref: ICD9:571.41 {source="DOID:2237"}
xref: MESH:D006505 {source="MONDO:equivalentTo"}
xref: NCIT:C3095 {source="MONDO:equivalentTo", source="kboom:pr0.73-conf3.89"}
xref: SCTID:197268000 {source="DOID:2237", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.24"}
is_a: MONDO:0005154 {source="DOID:2237", source="MESH:D006505", source="MONDO:Redundant", source="NCIT:C3095/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease
is_a: MONDO:0021166 ! inflammatory disease
relationship: excluded_subClassOf NCBITaxon:10239 {source="Wikidata"}
property_value: closeMatch http://identifiers.org/mesh/D006521
property_value: closeMatch http://identifiers.org/snomedct/155808003
property_value: closeMatch http://identifiers.org/snomedct/155813004
property_value: closeMatch http://identifiers.org/snomedct/197278002
property_value: closeMatch http://identifiers.org/snomedct/197288001
property_value: closeMatch http://identifiers.org/snomedct/197289009
property_value: closeMatch http://identifiers.org/snomedct/266536009
property_value: closeMatch http://identifiers.org/snomedct/266539002
property_value: closeMatch http://identifiers.org/snomedct/41889008
property_value: closeMatch http://identifiers.org/snomedct/76783007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001308
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019189
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149519
property_value: closeMatch NCIT:C82978
property_value: exactMatch DOID:2237
property_value: exactMatch http://identifiers.org/mesh/D006505
property_value: exactMatch http://identifiers.org/snomedct/197268000
property_value: exactMatch NCIT:C3095

[Term]
id: MONDO:0002252
name: granulomatous hepatitis
def: "Hepatitis that is characterized by the presence of granulomas." [NCIT:P378]
xref: DOID:2239 {source="MONDO:equivalentTo"}
xref: NCIT:C27015 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2239"}
xref: SCTID:86514004 {source="MONDO:equivalentTo", source="DOID:2239", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0235369 {source="NCIT:C27015", source="MONDO:equivalentTo", source="DOID:2239"}
is_a: MONDO:0002251 {source="DOID:2239", source="NCIT:C27015"} ! hepatitis
property_value: exactMatch DOID:2239
property_value: exactMatch http://identifiers.org/snomedct/86514004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235369
property_value: exactMatch NCIT:C27015

[Term]
id: MONDO:0002253
name: spondylosis
def: "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." [MESH:D055009]
synonym: "lumbar spondylosis with myelopathy" EXACT [DOID:2247]
synonym: "lumbosacral spondylosis without myelopathy" EXACT [DOID:2247]
synonym: "spondylogenic compression of lumbar spinal cord" EXACT [DOID:2247, MTHICD9_2006:721.42]
synonym: "spondylogenic compression of thoracic spinal cord" EXACT [DOID:2247, MTHICD9_2006:721.41]
synonym: "spondylosis with myelopathy" EXACT [DOID:2247]
synonym: "thoracic or lumbar spondylosis with myelopathy" EXACT [DOID:2247]
xref: COHD:4227449 {source="MONDO:equivalentTo"}
xref: DOID:2247 {source="MONDO:equivalentTo"}
xref: ICD10:M47 {source="MONDO:equivalentTo", source="DOID:2247"}
xref: ICD10:M47.9 {source="DOID:2247"}
xref: ICD9:721.3 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:721.9 {source="DOID:2247"}
xref: MESH:D055009 {source="MONDO:equivalentTo", source="DOID:2247"}
xref: SCTID:48210000 {source="MONDO:kboom-pr-0.88/0.75/0.13", source="MONDO:equivalentTo"}
xref: UMLS:C0038019 {source="MONDO:equivalentTo", source="DOID:2247"}
is_a: MONDO:0000836 {source="DOID:2247"} ! disease of bone structure
property_value: closeMatch http://identifiers.org/snomedct/156622007
property_value: closeMatch http://identifiers.org/snomedct/156628006
property_value: closeMatch http://identifiers.org/snomedct/202701004
property_value: closeMatch http://identifiers.org/snomedct/202704007
property_value: closeMatch http://identifiers.org/snomedct/267973008
property_value: closeMatch http://identifiers.org/snomedct/268074002
property_value: closeMatch http://identifiers.org/snomedct/268075001
property_value: exactMatch DOID:2247
property_value: exactMatch http://identifiers.org/mesh/D055009
property_value: exactMatch http://identifiers.org/snomedct/48210000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038019

[Term]
id: MONDO:0002254
name: syndromic disease
def: "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." [NCIT:C28193]
synonym: "cluster, symptom" EXACT [MESH:D013577]
synonym: "clusters, symptom" EXACT [MESH:D013577]
synonym: "symptom cluster" EXACT [MESH:D013577]
synonym: "symptom clusters" EXACT [MESH:D013577]
synonym: "syndrome" EXACT [NCIT:C28193, OGMS:0000086]
synonym: "syndrome associated with disease or disorder" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with disease or disorder" RELATED [MONDO:patterns/syndromic]
synonym: "syndromes" EXACT [MESH:D013577]
synonym: "syndromic disease" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic disease or disorder" EXACT [MONDO:patterns/syndromic]
xref: DOID:225 {source="MONDO:equivalentTo"}
xref: MESH:D013577 {source="DOID:225", source="MONDO:equivalentTo"}
xref: NCIT:C28193 {source="DOID:225", source="MONDO:equivalentTo"}
xref: OGMS:0000086 {source="MONDO:cjm"}
xref: UMLS:C0039082 {source="DOID:225", source="MONDO:equivalentTo", source="NCIT:C28193"}
is_a: MONDO:0000001 {source="DOID:225", source="MESH:D013577", source="MONDO:Redundant", source="NCIT:C28193"} ! disease or disorder
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
disjoint_from: MONDO:0011348 ! non-syndromic polydactyly
disjoint_from: MONDO:0019530 ! non-syndromic syndactyly
relationship: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch DOID:225
property_value: exactMatch http://identifiers.org/mesh/D013577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039082
property_value: exactMatch NCIT:C28193

[Term]
id: MONDO:0002255
name: hypertrophic elongation of cervix
xref: COHD:194088 {source="MONDO:equivalentTo"}
xref: DOID:2251 {source="MONDO:equivalentTo"}
xref: ICD10:N88.4 {source="DOID:2251"}
xref: ICD9:622.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:2251"}
xref: SCTID:198353000 {source="MONDO:equivalentTo", source="DOID:2251", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020561 {source="MONDO:equivalentTo", source="DOID:2251"}
is_a: MONDO:0002256 {source="DOID:2251", source="linkedlifedata"} ! cervix disease
property_value: closeMatch http://identifiers.org/snomedct/35863000
property_value: exactMatch DOID:2251
property_value: exactMatch http://identifiers.org/snomedct/198353000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020561

[Term]
id: MONDO:0002256
name: cervix disease
def: "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." [NCIT:P378]
synonym: "cervical disorder" EXACT [NCIT:C40241]
synonym: "disease of uterine cervix" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uterine cervix" EXACT []
synonym: "disorder of uterine cervix" EXACT [MONDO:patterns/location_top]
synonym: "disorder of uterine cervix" RELATED [MONDO:patterns/location_top]
synonym: "uterine cervix disease" EXACT [MONDO:patterns/location]
synonym: "uterine cervix disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:2253 {source="MONDO:equivalentTo"}
xref: MESH:D002577 {source="DOID:2253", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C40241 {source="DOID:2253", source="MONDO:equivalentTo"}
xref: SCTID:63339007 {source="DOID:2253", source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo"}
xref: UMLS:C0007867 {source="DOID:2253", source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="DOID:2253", source="MESH:D002577", source="MONDO:Redundant", source="NCIT:C40241", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/156010005
property_value: closeMatch http://identifiers.org/snomedct/156014001
property_value: closeMatch http://identifiers.org/snomedct/266661001
property_value: closeMatch http://identifiers.org/snomedct/286988004
property_value: exactMatch DOID:2253
property_value: exactMatch http://identifiers.org/mesh/D002577
property_value: exactMatch http://identifiers.org/snomedct/63339007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007867
property_value: exactMatch NCIT:C40241

[Term]
id: MONDO:0002257
name: ankylosis (disease)
def: "Fixation and immobility of a joint." [MESH:D000844]
synonym: "ankylosis" EXACT [MONDO:ambiguous]
xref: DOID:227 {source="MONDO:equivalentTo"}
xref: HP:0031013 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M24.6 {source="DOID:227"}
xref: ICD9:718.5 {source="DOID:227"}
xref: ICD9:718.50 {source="DOID:227"}
xref: MESH:D000844 {source="DOID:227", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:111227009 {source="DOID:227", source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:227", source="MESH:D000844", source="linkedlifedata"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/156559001
property_value: closeMatch http://identifiers.org/snomedct/156569007
property_value: closeMatch http://identifiers.org/snomedct/202297005
property_value: closeMatch http://identifiers.org/snomedct/202323002
property_value: closeMatch http://identifiers.org/snomedct/36504009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003090
property_value: exactMatch DOID:227
property_value: exactMatch http://identifiers.org/mesh/D000844
property_value: exactMatch http://identifiers.org/snomedct/111227009

[Term]
id: MONDO:0002258
name: pharyngitis
def: "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." [NCIT:C26851]
synonym: "acute pharyngitis" NARROW [DOID:2275, ICD9CM_2006:462]
synonym: "acute sore throat" NARROW [DOID:2275]
synonym: "chronic pharyn/nasopharyngitis" NARROW [DOID:2275]
synonym: "chronic pharyngitis" NARROW [DOID:2275, ICD9CM_2006:472.1]
synonym: "chronic pharyngitis and nasopharyngitis" NARROW [DOID:2275]
synonym: "chronic sore throat" NARROW [DOID:2275]
synonym: "inflamed throat" EXACT [DOID:2275]
synonym: "inflammation of throat" EXACT []
synonym: "persistent sore throat" NARROW [DOID:2275]
synonym: "pharyngeal disease" BROAD [DOID:2275]
synonym: "pharyngeal disorder" BROAD [DOID:2275]
synonym: "pharyngitis - acute" NARROW [DOID:2275]
synonym: "Sore throat" EXACT [NCIT:C26851]
synonym: "Sore throat - chronic" NARROW [DOID:2275]
synonym: "throat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2275 {source="MONDO:equivalentTo"}
xref: ICD10:J02 {source="DOID:2275"}
xref: ICD10:J02.9 {source="DOID:2275"}
xref: ICD9:462 {source="DOID:2275"}
xref: ICD9:472 {source="DOID:2275"}
xref: ICD9:478.20 {source="DOID:2275"}
xref: MESH:D010612 {source="DOID:2275", source="MONDO:equivalentTo"}
xref: NCIT:C26851 {source="DOID:2275", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.63/0.91"}
xref: SCTID:405737000 {source="DOID:2275", source="MONDO:kboom-pr-0.83/0.56/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0031350 {source="DOID:2275", source="MONDO:equivalentTo", source="NCIT:C26851"}
is_a: MONDO:0004867 {source="DOID:2275", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0021059 {source="MONDO:Redundant", source="NCIT:C26851/inferred"} ! head or neck disease/disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/mesh/D010608
property_value: closeMatch http://identifiers.org/snomedct/141458004
property_value: closeMatch http://identifiers.org/snomedct/155502006
property_value: closeMatch http://identifiers.org/snomedct/155521003
property_value: closeMatch http://identifiers.org/snomedct/164261009
property_value: closeMatch http://identifiers.org/snomedct/195654001
property_value: closeMatch http://identifiers.org/snomedct/195664005
property_value: closeMatch http://identifiers.org/snomedct/195763009
property_value: closeMatch http://identifiers.org/snomedct/195784004
property_value: closeMatch http://identifiers.org/snomedct/195832000
property_value: closeMatch http://identifiers.org/snomedct/266379007
property_value: closeMatch http://identifiers.org/snomedct/266383007
property_value: closeMatch http://identifiers.org/snomedct/27321001
property_value: closeMatch http://identifiers.org/snomedct/367427004
property_value: closeMatch http://identifiers.org/snomedct/37616004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001344
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031345
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155824
property_value: exactMatch DOID:2275
property_value: exactMatch http://identifiers.org/mesh/D010612
property_value: exactMatch http://identifiers.org/snomedct/405737000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031350
property_value: exactMatch NCIT:C26851

[Term]
id: MONDO:0002259
name: gonadal disease
def: "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." [NCIT:P378]
synonym: "disease of gonad" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gonad" EXACT []
synonym: "disorder of gonad" EXACT [MONDO:patterns/location_top]
synonym: "disorder of gonad" RELATED [MONDO:patterns/location_top]
synonym: "disorder of gonads" EXACT [NCIT:C26786]
synonym: "gonad disease" EXACT [MONDO:patterns/location]
synonym: "gonad disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "gonadal disorder" EXACT [NCIT:C26786]
synonym: "gonadal disorders" EXACT [NCIT:C26786]
xref: DOID:2277 {source="MONDO:equivalentTo"}
xref: MESH:D006058 {source="DOID:2277", source="MONDO:equivalentTo"}
xref: NCIT:C26786 {source="DOID:2277", source="MONDO:equivalentTo"}
xref: UMLS:C0018050 {source="DOID:2277", source="MONDO:equivalentTo"}
is_a: MONDO:0005039 ! reproductive system disease
is_a: MONDO:0005151 {source="DOID:2277", source="MESH:D006058"} ! endocrine system disease
property_value: exactMatch DOID:2277
property_value: exactMatch http://identifiers.org/mesh/D006058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018050
property_value: exactMatch NCIT:C26786

[Term]
id: MONDO:0002260
name: hidradenitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "apocrine sweat gland" EXACT [NCIT:C32132]
synonym: "apocrine sweat gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Hydradenitis" EXACT [DOID:2282]
synonym: "inflammation of apocrine sweat gland" EXACT []
xref: COHD:434119 {source="MONDO:equivalentTo"}
xref: DOID:2282 {source="MONDO:equivalentTo"}
xref: ICD9:705.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:2282"}
xref: MESH:D016575 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2282"}
xref: NCIT:C32132 {source="MONDO:equivalentTo"}
xref: SCTID:69741000 {source="MONDO:equivalentTo", source="DOID:2282", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085160 {source="MONDO:equivalentTo", source="DOID:2282"}
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0024467 ! apocrine sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/156417004
property_value: closeMatch http://identifiers.org/snomedct/201204008
property_value: closeMatch http://identifiers.org/snomedct/267814008
property_value: closeMatch http://identifiers.org/snomedct/267866004
property_value: exactMatch DOID:2282
property_value: exactMatch http://identifiers.org/mesh/D016575
property_value: exactMatch http://identifiers.org/snomedct/69741000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085160
property_value: exactMatch NCIT:C112190
property_value: exactMatch NCIT:C32132

[Term]
id: MONDO:0002261
name: keratopathy
def: "Any disorder of the cornea." [NCIT:P378]
xref: DOID:2283 {source="MONDO:equivalentTo"}
xref: NCIT:C27012 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:2283"}
xref: UMLS:C0235270 {source="NCIT:C27012", source="MONDO:equivalentTo", source="DOID:2283"}
is_a: MONDO:0000942 {source="DOID:2283", source="NCIT:C27012/inferred"} ! corneal disease
property_value: exactMatch DOID:2283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235270
property_value: exactMatch NCIT:C27012

[Term]
id: MONDO:0002262
name: capillary lymphangioma
def: "A lymphangioma that involves the capillary." [MONDO:patterns/location]
synonym: "capillary lymphangioma" EXACT [MONDO:patterns/location]
synonym: "cutaneous lymphangioma" RELATED [DOID:2286]
xref: DOID:2286 {source="MONDO:equivalentTo"}
xref: SCTID:445492005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001574 {source="DOID:2286", source="MONDO:Entailed", source="MONDO:Redundant"} ! capillary disease
is_a: MONDO:0002013 {source="DOID:2286", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphangioma
is_a: MONDO:0024286 ! benign blood vessel neoplasm
property_value: exactMatch DOID:2286
property_value: exactMatch http://identifiers.org/snomedct/445492005

[Term]
id: MONDO:0002263
name: female reproductive system disease
def: "A disease involving the female reproductive system." [MONDO:DesignPattern]
synonym: "disease of female genital system" RELATED []
synonym: "disease of female reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of female reproductive system" EXACT []
synonym: "disorder of female genital system" EXACT []
synonym: "disorder of female genital tract" RELATED []
synonym: "disorder of female reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of female reproductive system" RELATED [MONDO:patterns/location_top]
synonym: "female reproductive disease" EXACT [DOID:229]
synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020]
synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "female reproductive system disorder" EXACT [NCIT:C27020]
synonym: "gynecological disease" RELATED []
xref: DOID:229 {source="MONDO:equivalentTo"}
xref: ICD9:629.9 {source="DOID:229"}
xref: MESH:D005831 {source="DOID:229", source="MONDO:equivalentTo"}
xref: NCIT:C27020 {source="MONDO:equivalentTo"}
xref: SCTID:310789003 {source="DOID:229", source="MONDO:equivalentTo"}
is_a: MONDO:0005039 {source="DOID:229", source="MONDO:Redundant", source="NCIT:C27020", source="linkedlifedata", source="linkedlifedata/inferred"} ! reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/156032001
property_value: closeMatch http://identifiers.org/snomedct/156066005
property_value: closeMatch http://identifiers.org/snomedct/198486002
property_value: closeMatch http://identifiers.org/snomedct/244938009
property_value: closeMatch http://identifiers.org/snomedct/266680004
property_value: closeMatch http://identifiers.org/snomedct/38233001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017411
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236100
property_value: exactMatch DOID:229
property_value: exactMatch http://identifiers.org/mesh/D005831
property_value: exactMatch http://identifiers.org/snomedct/310789003
property_value: exactMatch NCIT:C27020

[Term]
id: MONDO:0002264
name: atrophy of prostate
synonym: "atrophic prostate" RELATED []
synonym: "atrophy of prostate" EXACT []
synonym: "prostate atrophy" RELATED []
xref: COHD:200147 {source="MONDO:equivalentTo"}
xref: DOID:2301 {source="MONDO:equivalentTo"}
xref: ICD10:N42.2 {source="MONDO:equivalentTo"}
xref: ICD9:602.2 {source="DOID:2301", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:29524003 {source="DOID:2301", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156296 {source="DOID:2301", source="MONDO:equivalentTo"}
is_a: MONDO:0003105 {source="DOID:2301", source="linkedlifedata"} ! prostate disease
is_a: MONDO:0024236 ! degenerative disorder
property_value: exactMatch DOID:2301
property_value: exactMatch http://identifiers.org/snomedct/29524003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156296

[Term]
id: MONDO:0002265
name: stereotypic movement disorder
def: "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" [MESH:D019956]
synonym: "stereotyped repetitive movements" EXACT [DOID:2303]
synonym: "stereotyped repetitive movements NOS (finding)" EXACT [DOID:2303]
synonym: "stereotypy habit disorder" EXACT [DOID:2303]
xref: COHD:4207660 {source="MONDO:equivalentTo"}
xref: DOID:2303 {source="MONDO:equivalentTo"}
xref: ICD10:F98.4 {source="DOID:2303"}
xref: ICD9:307.3 {source="DOID:2303", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019956 {source="DOID:2303", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:5507002 {source="DOID:2303", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
is_a: MONDO:0000592 {source="DOID:2303"} ! specific developmental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038273
property_value: exactMatch DOID:2303
property_value: exactMatch http://identifiers.org/mesh/D019956
property_value: exactMatch http://identifiers.org/snomedct/5507002

[Term]
id: MONDO:0002266
name: malt worker's lung
def: "An extrinsic allergic alveolitis caused by infection with Aspergillus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "alveolitis due to aspergillus clavatus" NARROW [DOID:2314]
synonym: "Aspergillus caused extrinsic allergic alveolitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aspergillus extrinsic allergic alveolitis" EXACT []
synonym: "malt worker lung" EXACT [DOID:2314]
synonym: "Malt workers' lung" EXACT [DOID:2314, ICD9CM_2006:495.4]
synonym: "Malt-workers' lung" EXACT [DOID:2314]
xref: DOID:2314 {source="MONDO:equivalentTo"}
xref: ICD10:J67.4 {source="DOID:2314"}
xref: ICD9:495.4 {source="DOID:2314", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:25897000 {source="DOID:2314", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155888 {source="DOID:2314", source="MONDO:equivalentTo"}
is_a: MONDO:0000266 ! pulmonary aspergilloma
is_a: MONDO:0004553 {source="DOID:2314", source="MONDO:Redundant", source="MONDOLEX:0002266"} ! extrinsic allergic alveolitis
is_a: MONDO:0015243 ! allergic bronchopulmonary aspergillosis
property_value: exactMatch DOID:2314
property_value: exactMatch http://identifiers.org/snomedct/25897000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155888

[Term]
id: MONDO:0002267
name: obstructive lung disease
def: "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent." [MESH:D008173]
synonym: "respiratory airway obstruction" EXACT [CSP2005:2596-8463, DOID:2320]
xref: DOID:2320 {source="MONDO:equivalentTo"}
xref: MESH:D008173 {source="DOID:2320", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0600260 {source="DOID:2320", source="MONDO:equivalentTo"}
is_a: MONDO:0005275 {source="DOID:2320", source="MESH:D008173"} ! lung disease
property_value: exactMatch DOID:2320
property_value: exactMatch http://identifiers.org/mesh/D008173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600260

[Term]
id: MONDO:0002268
name: dyspepsia
def: "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." [NCIT:C26756]
synonym: "dyspepsia, indigestion" EXACT [DOID:2321]
synonym: "dyspepsia, indigestion NOS" RELATED EXCLUDE [DOID:2321]
synonym: "indigestion" EXACT [CSP2005:1249-7609, DOID:2321]
xref: COHD:439418 {source="MONDO:equivalentTo"}
xref: DOID:2321 {source="MONDO:equivalentTo"}
xref: EFO:0008533 {source="MONDO:equivalentTo"}
xref: ICD10:K30 {source="DOID:2321"}
xref: ICD10:R10.13 {source="DOID:2321"}
xref: MESH:D004415 {source="DOID:2321", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26756 {source="DOID:2321", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
is_a: MONDO:0001318 {source="DOID:2321"} ! functional gastric disease
property_value: closeMatch http://identifiers.org/snomedct/139299007
property_value: closeMatch http://identifiers.org/snomedct/155722007
property_value: closeMatch http://identifiers.org/snomedct/162031009
property_value: closeMatch http://identifiers.org/snomedct/196752002
property_value: closeMatch http://identifiers.org/snomedct/249510006
property_value: closeMatch http://identifiers.org/snomedct/266505001
property_value: closeMatch http://identifiers.org/snomedct/87548005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013395
property_value: exactMatch DOID:2321
property_value: exactMatch http://identifiers.org/mesh/D004415
property_value: exactMatch NCIT:C26756

[Term]
id: MONDO:0002269
name: gastroenteritis
def: "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." [NCIT:C34632]
synonym: "cholera morbus" EXACT [DOID:2326]
synonym: "infectious colitis, enteritis and gastroenteritis" NARROW [DOID:2326]
synonym: "inflammation of intestine" EXACT []
synonym: "intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:198062 {source="MONDO:equivalentTo"}
xref: DOID:2326 {source="MONDO:equivalentTo"}
xref: EFO:1001463 {source="MONDO:equivalentTo"}
xref: ICD10:K52.9 {source="DOID:2326"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005759 {source="MONDO:equivalentTo", source="DOID:2326"}
xref: NCIT:C34632 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2326"}
xref: SCTID:25374005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.70/0.38", source="DOID:2326"}
xref: UMLS:C0017160 {source="MONDO:equivalentTo", source="DOID:2326", source="NCIT:C34632"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="linkedlifedata"} ! intestinal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34632/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
property_value: closeMatch http://identifiers.org/snomedct/154278002
property_value: closeMatch http://identifiers.org/snomedct/197010007
property_value: closeMatch http://identifiers.org/snomedct/266179001
property_value: exactMatch DOID:2326
property_value: exactMatch http://identifiers.org/mesh/D005759
property_value: exactMatch http://identifiers.org/snomedct/25374005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017160
property_value: exactMatch NCIT:C34632

[Term]
id: MONDO:0002270
name: viral gastritis
def: "Inflammation of the stomach resulting from viral infection." [NCIT:C27184]
synonym: "viral gastritis" EXACT [NCIT:C27184]
synonym: "Viruses caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses gastritis (disease)" EXACT []
xref: DOID:2327 {source="MONDO:equivalentTo"}
xref: ICD9:008.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27184 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2327"}
xref: SCTID:285344007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59", source="DOID:2327"}
xref: UMLS:C0563238 {source="MONDO:equivalentTo", source="DOID:2327", source="NCIT:C27184"}
is_a: MONDO:0004966 {source="DOID:2327", source="MONDO:Redundant", source="MONDOLEX:0002270", source="NCIT:C27184", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:2327
property_value: exactMatch http://identifiers.org/snomedct/285344007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0563238
property_value: exactMatch NCIT:C27184

[Term]
id: MONDO:0002271
name: colon adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the colon" [MONDO:DesignPattern]
synonym: "adenocarcinoma - colon" EXACT [NCIT:C4349]
synonym: "adenocarcinoma of colon" EXACT [DOID:234, NCIT:C4349]
synonym: "adenocarcinoma of the colon" EXACT [DOID:234, NCIT:C4349]
synonym: "COAD" RELATED [ONCOTREE:COAD]
synonym: "colon adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4349]
synonym: "colonic adenocarcinoma" EXACT [DOID:234, NCIT:C4349]
xref: DOID:234 {source="MONDO:equivalentTo"}
xref: EFO:1001949 {source="MONDO:equivalentTo"}
xref: NCIT:C4349 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:234"}
xref: ONCOTREE:COAD {source="MONDO:equivalentTo"}
xref: UMLS:C0338106 {source="MONDO:equivalentTo", source="NCIT:C4349", source="DOID:234"}
is_a: MONDO:0002032 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="MONDOLEX:0002271", source="NCIT:C4349"} ! colon carcinoma
is_a: MONDO:0005008 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="NCIT:C4349", source="ONCOTREE:COAD", source="OWLReasoner:2017"} ! colorectal adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/255082000
property_value: exactMatch DOID:234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338106
property_value: exactMatch NCIT:C4349

[Term]
id: MONDO:0002272
name: polyclonal hypergammaglobulinemia
def: "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." [NCIT:C35885]
comment: Editor note: check HP:0003459 Polyclonal elevation of IgM
synonym: "polyclonal hypergammaglobulinemia" EXACT [DOID:2344, NCIT:C35885]
xref: COHD:432587 {source="MONDO:equivalentTo"}
xref: DOID:2344 {source="MONDO:equivalentTo"}
xref: ICD10:D89.0 {source="DOID:2344", source="MONDO:equivalentTo"}
xref: ICD9:273.0 {source="DOID:2344", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35885 {source="DOID:2344", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:190808009 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="DOID:2344", source="MONDO:equivalentTo"}
xref: UMLS:C0154254 {source="DOID:2344", source="MONDO:equivalentTo"}
is_a: MONDO:0002273 {source="DOID:2344"} ! plasma protein metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/190811005
property_value: exactMatch DOID:2344
property_value: exactMatch http://identifiers.org/snomedct/190808009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154254
property_value: exactMatch NCIT:C35885

[Term]
id: MONDO:0002273
name: plasma protein metabolism disease
def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction." [DOID:2345, http://en.wikipedia.org/wiki/Blood_protein]
xref: DOID:2345 {source="MONDO:equivalentTo"}
xref: ICD9:273.8 {source="DOID:2345"}
is_a: MONDO:0019052 {source="DOID:2345"} ! inborn errors of metabolism
property_value: closeMatch http://identifiers.org/snomedct/190822009
property_value: closeMatch http://identifiers.org/snomedct/190825006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029594
property_value: exactMatch DOID:2345

[Term]
id: MONDO:0002274
name: monoclonal paraproteinemia disease
def: "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma." [https://en.wikipedia.org/wiki/Paraproteinemia]
synonym: "monoclonal paraproteinaemia" EXACT [DOID:2346]
synonym: "monoclonal paraproteinemia" EXACT [DOID:2346, NCIT:C35878]
synonym: "paraproteinaemia" EXACT [https://en.wikipedia.org/wiki/Paraproteinemia]
xref: COHD:441532 {source="MONDO:equivalentTo"}
xref: DOID:2346 {source="MONDO:equivalentTo"}
xref: HP:0031047 {source="MONDO:otherHierarchy"}
xref: ICD9:273.1 {source="MONDO:equivalentTo", source="DOID:2346", source="i2s"}
xref: NCIT:C35878 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:2346", source="exact-label-match"}
xref: SCTID:267440005 {source="MONDO:equivalentTo", source="DOID:2346", source="MONDO:kboom-pr-1.00/0.91/27.74"}
xref: UMLS:C0026471 {source="MONDO:equivalentTo", source="DOID:2346"}
is_a: MONDO:0002273 {source="DOID:2346"} ! plasma protein metabolism disease
is_a: MONDO:0004960 {source="linkedlifedata"} ! monoclonal gammopathy
property_value: closeMatch http://identifiers.org/snomedct/190812003
property_value: exactMatch DOID:2346
property_value: exactMatch http://identifiers.org/snomedct/267440005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026471
property_value: exactMatch NCIT:C35878

[Term]
id: MONDO:0002275
name: generalized atherosclerosis
def: "Atherosclerosis that is not localized." [NCIT:P378]
synonym: "generalised atherosclerosis" EXACT [DOID:2347]
synonym: "generalized and unspecified atherosclerosis" EXACT [DOID:2347, ICD9CM_2006:440.9]
xref: COHD:321882 {source="MONDO:equivalentTo"}
xref: DOID:2347 {source="MONDO:equivalentTo"}
xref: ICD10:I70.91 {source="DOID:2347", source="MONDO:equivalentTo"}
xref: ICD9:440.9 {source="DOID:2347", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35767 {source="DOID:2347", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:39823006 {source="DOID:2347", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017327 {source="DOID:2347", source="MONDO:equivalentTo", source="NCIT:C35767"}
is_a: MONDO:0005311 {source="DOID:2347", source="ICD10:I70.91", source="ICD10:I70.91/inferred", source="NCIT:C35767", source="linkedlifedata"} ! atherosclerosis
property_value: closeMatch http://identifiers.org/snomedct/367108003
property_value: exactMatch DOID:2347
property_value: exactMatch http://identifiers.org/snomedct/39823006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017327
property_value: exactMatch NCIT:C35767

[Term]
id: MONDO:0002276
name: obsolete arteriosclerotic cardiovascular disease
is_obsolete: true
replaced_by: MONDO:0002277

[Term]
id: MONDO:0002277
name: arteriosclerosis disorder
def: "A vascular disorder characterized by thickening and hardening of the walls of the arteries." [NCIT:C34398]
synonym: "arterial sclerosis" EXACT [NCIT:C34398]
synonym: "arteriosclerosis" EXACT [MONDO:ambiguous]
synonym: "arteriosclerosis NOS" RELATED EXCLUDE [DOID:2349]
synonym: "arteriosclerotic cardiovascular disease" EXACT [DOID:2348, MONDO:0002276, MTHICD9_2006:429.2, NCIT:C34403]
synonym: "arteriosclerotic cardiovascular disease, NOS" RELATED EXCLUDE [DOID:2348]
synonym: "arteriosclerotic vascular disease" EXACT []
synonym: "arteriosclerotic vascular disease NOS" RELATED EXCLUDE [DOID:2349]
synonym: "cardiovascular arteriosclerosis" EXACT [DOID:2348]
synonym: "vascular sclerosis" EXACT [NCIT:C34398]
xref: CSP:0571-2299 {source="DOID:2349"}
xref: DOID:2348 {source="MONDO:equivalentTo"}
xref: DOID:2349 {source="MONDO:equivalentTo"}
xref: EFO:0009086 {source="MONDO:equivalentTo"}
xref: HP:0002634 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I25.1 {source="DOID:2348"}
xref: ICD10:I70 {source="MONDO:superClassOf", source="DOID:2349", source="DOID:2348"}
xref: ICD9:440 {source="DOID:2348"}
xref: MESH:D001161 {source="MONDO:equivalentTo", source="DOID:2349", source="MONDO:ontobio"}
xref: NCIT:C34398 {source="MONDO:equivalentTo", source="DOID:2349", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: NCIT:C34403 {source="MONDO:equivalentTo", source="DOID:2348"}
xref: SCTID:72092001 {source="MONDO:equivalentTo", source="DOID:2349", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003850 {source="MONDO:equivalentTo", source="NCIT:C34398", source="DOID:2349"}
xref: UMLS:C3665365 {source="MONDO:equivalentTo", source="DOID:2348", source="NCIT:C34403"}
is_a: MONDO:0000473 {source="DOID:2348/inferred", source="DOID:2349", source="NCIT:C34398", source="linkedlifedata"} ! arterial disorder
property_value: closeMatch http://identifiers.org/snomedct/107671003
property_value: closeMatch http://identifiers.org/snomedct/155382007
property_value: closeMatch http://identifiers.org/snomedct/155414001
property_value: closeMatch http://identifiers.org/snomedct/155418003
property_value: closeMatch http://identifiers.org/snomedct/194848007
property_value: closeMatch http://identifiers.org/snomedct/195121002
property_value: closeMatch http://identifiers.org/snomedct/195251000
property_value: closeMatch http://identifiers.org/snomedct/195257001
property_value: closeMatch http://identifiers.org/snomedct/266318005
property_value: closeMatch http://identifiers.org/snomedct/28960008
property_value: closeMatch http://identifiers.org/snomedct/38716007
property_value: closeMatch http://identifiers.org/snomedct/39468009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004153
property_value: exactMatch DOID:2348
property_value: exactMatch DOID:2349
property_value: exactMatch http://identifiers.org/mesh/D001161
property_value: exactMatch http://identifiers.org/snomedct/72092001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665365
property_value: exactMatch NCIT:C34398
property_value: exactMatch NCIT:C34403

[Term]
id: MONDO:0002278
name: benign colon neoplasm
alt_id: MONDO:0021466
def: "A non-metastasizing neoplasm arising from the wall of the colon." [NCIT:C2894]
synonym: "benign colon neoplasm" EXACT [NCIT:C2894]
synonym: "benign colon tumor" EXACT [NCIT:C2894]
synonym: "benign colonic neoplasm" EXACT [NCIT:C2894]
synonym: "benign colonic tumor" EXACT [NCIT:C2894]
synonym: "benign neoplasm of colon" EXACT [NCIT:C2894]
synonym: "benign neoplasm of the colon" EXACT [NCIT:C2894]
synonym: "benign tumor of colon" EXACT [NCIT:C2894]
synonym: "benign tumor of the colon" EXACT [NCIT:C2894]
synonym: "colon benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "colon neoplasm" EXACT [CSP2005:2010-0360, DOID:235]
synonym: "colonic benign neoplasm" RELATED [DOID:235]
synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904]
synonym: "colonic tumor" EXACT [DOID:235, NCIT:C2953]
synonym: "neoplasm of colon" EXACT EXCLUDE [DOID:235]
xref: DOID:235 {source="MONDO:equivalentTo"}
xref: ICD9:211.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2894 {source="MONDO:equivalentTo"}
xref: SCTID:92065004 {source="MONDO:equivalentTo"}
xref: UMLS:C0004991 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2894"}
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C2894"} ! colonic neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C2894", source="linkedlifedata"} ! benign neoplasm of large intestine
property_value: closeMatch http://identifiers.org/snomedct/126838000
property_value: exactMatch DOID:235
property_value: exactMatch http://identifiers.org/snomedct/92065004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004991
property_value: exactMatch NCIT:C2894

[Term]
id: MONDO:0002279
name: iron metabolism disease
def: "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" [MESH:D019189]
comment: Editor note: DOID refers to acquired version, consider new class
synonym: "disorder of iron metabolism" EXACT [DOID:2351, ICD9CM_2006:275.0]
synonym: "disorder, iron metabolism" RELATED [MESH:D019189]
synonym: "disorders, iron metabolism" RELATED [MESH:D019189]
synonym: "iron disorder" EXACT [CSP2005:1630-2859, DOID:2351]
synonym: "iron metabolism disorder" RELATED [MESH:D019189]
synonym: "metabolism disorder, iron" RELATED [MESH:D019189]
synonym: "metabolism disorders, iron" RELATED [MESH:D019189]
xref: COHD:434614 {source="MONDO:equivalentTo"}
xref: DOID:2351 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="DOID:2351", source="MONDO:equivalentTo"}
xref: ICD10:E83.10 {source="DOID:2351"}
xref: ICD9:275.0 {source="DOID:2351", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019189 {source="DOID:2351", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:30913008 {source="DOID:2351", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0012715 {source="DOID:2351", source="MONDO:equivalentTo"}
is_a: MONDO:0000226 {source="DOID:2351", source="ICD10:E83.1", source="linkedlifedata"} ! mineral metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/154751003
property_value: closeMatch http://identifiers.org/snomedct/190851008
property_value: closeMatch http://identifiers.org/snomedct/267504005
property_value: exactMatch DOID:2351
property_value: exactMatch http://identifiers.org/mesh/D019189
property_value: exactMatch http://identifiers.org/snomedct/30913008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012715

[Term]
id: MONDO:0002280
name: anemia (disease)
def: "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." [NCIT:C2869]
synonym: "anaemia" EXACT [DOID:2355]
synonym: "anemia" EXACT [MONDO:ambiguous, NCIT:C2869]
xref: DOID:2355 {source="MONDO:equivalentTo"}
xref: EFO:0004272 {source="DOID:2355", source="MONDO:equivalentTo"}
xref: HP:0001903 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D64.9 {source="DOID:2355"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:285.9 {source="DOID:2355", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000740 {source="DOID:2355", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2869 {source="DOID:2355", source="MONDO:equivalentTo"}
xref: SCTID:271737000 {source="DOID:2355", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/14.80"}
is_a: MONDO:0005570 {source="DOID:2355", source="MESH:D000740", source="NCIT:C2869/inferred", source="linkedlifedata"} ! hematologic disease
property_value: closeMatch http://identifiers.org/snomedct/154786001
property_value: closeMatch http://identifiers.org/snomedct/154812000
property_value: closeMatch http://identifiers.org/snomedct/191277004
property_value: closeMatch http://identifiers.org/snomedct/267531008
property_value: closeMatch http://identifiers.org/snomedct/64593003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002871
property_value: exactMatch DOID:2355
property_value: exactMatch http://identifiers.org/mesh/D000740
property_value: exactMatch http://identifiers.org/snomedct/271737000
property_value: exactMatch NCIT:C2869

[Term]
id: MONDO:0002281
name: macrocytic anemia (disease)
def: "Anemia that is characterized by increased red blood cell volume." [NCIT:P378]
synonym: "anemia macrocytic" EXACT [DOID:2361, MTH:NOCODE]
synonym: "D22S676" EXACT [Orphanet:119999]
synonym: "D22S750" EXACT [Orphanet:119999]
synonym: "macrocytic anaemia" EXACT [DOID:2361]
synonym: "macrocytic anaemia of unspecified cause" EXACT [DOID:2361]
synonym: "macrocytic Anemia" EXACT [DOID:2361, NCIT:C34381]
synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous, MTHICD9_2006:281.9]
xref: DOID:2361 {source="MONDO:equivalentTo"}
xref: HP:0001972 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D000748 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2361"}
xref: NCIT:C34381 {source="MONDO:equivalentTo", source="DOID:2361", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:83414005 {source="MONDO:equivalentTo", source="DOID:2361", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0002886 {source="NCIT:C34381", source="MONDO:equivalentTo", source="DOID:2361"}
is_a: MONDO:0002280 {source="DOID:2361", source="MESH:D000748", source="NCIT:C34381", source="linkedlifedata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/191151004
property_value: closeMatch http://identifiers.org/snomedct/191277004
property_value: closeMatch http://identifiers.org/snomedct/234356001
property_value: exactMatch DOID:2361
property_value: exactMatch http://identifiers.org/mesh/D000748
property_value: exactMatch http://identifiers.org/snomedct/83414005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002886
property_value: exactMatch NCIT:C34381

[Term]
id: MONDO:0002282
name: West Nile fever
def: "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" [MESH:D014901]
synonym: "West Nile virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "West Nile virus disease or disorder" EXACT []
synonym: "West Nile virus infectious disease" EXACT []
xref: DOID:2366 {source="MONDO:equivalentTo"}
xref: ICD10:A92.3 {source="DOID:2366"}
xref: ICD10:A92.30 {source="DOID:2366"}
xref: ICD9:066.4 {source="DOID:2366"}
xref: ICD9:066.40 {source="DOID:2366"}
xref: MESH:D014901 {source="DOID:2366", source="MONDO:equivalentTo"}
xref: SCTID:417093003 {source="DOID:2366", source="MONDO:equivalentTo"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/12381007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043124
property_value: exactMatch DOID:2366
property_value: exactMatch http://identifiers.org/mesh/D014901
property_value: exactMatch http://identifiers.org/snomedct/417093003

[Term]
id: MONDO:0002283
name: neuroaxonal dystrophy
def: "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" [MESH:D019150]
xref: DOID:2367 {source="MONDO:equivalentTo"}
xref: MESH:D019150 {source="DOID:2367", source="MONDO:equivalentTo"}
xref: SCTID:230365004 {source="DOID:2367", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338473 {source="DOID:2367", source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="DOID:2367", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease
property_value: exactMatch DOID:2367
property_value: exactMatch http://identifiers.org/mesh/D019150
property_value: exactMatch http://identifiers.org/snomedct/230365004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338473

[Term]
id: MONDO:0002284
name: obsolete gangliosidosis
is_obsolete: true
replaced_by: MONDO:0017719

[Term]
id: MONDO:0002285
name: pupil disease
def: "A disease involving the pupil." [MONDO:DesignPattern]
synonym: "disease of pupil" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pupil" EXACT []
synonym: "disorder of pupil" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pupil" RELATED [MONDO:patterns/location_top]
synonym: "pupil disease" EXACT [MONDO:patterns/location]
synonym: "pupil disease or disorder" EXACT [MONDO:patterns/location]
synonym: "pupillary disorder" EXACT [DOID:238]
xref: DOID:238 {source="MONDO:equivalentTo"}
xref: SCTID:68633000 {source="DOID:238", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034124 {source="DOID:238", source="MONDO:equivalentTo"}
is_a: MONDO:0002289 ! iris disease
property_value: closeMatch http://identifiers.org/mesh/D011681
property_value: exactMatch DOID:238
property_value: exactMatch http://identifiers.org/snomedct/68633000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034124

[Term]
id: MONDO:0002286
name: renal artery disease
def: "A disease involving the renal artery." [MONDO:DesignPattern]
synonym: "renal vascular disease" EXACT [DOID:2388]
synonym: "vascular disorder of kidney" EXACT [DOID:2388, ICD9CM_2006:593.81]
xref: DOID:2388 {source="MONDO:equivalentTo"}
xref: ICD9:593.81 {source="DOID:2388", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C101254 {source="MONDO:kboom-pr-0.93/0.86/0.08", source="MONDO:equivalentTo"}
xref: SCTID:16934004 {source="DOID:2388", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
xref: UMLS:C0268790 {source="DOID:2388", source="MONDO:equivalentTo"}
xref: UMLS:C3640053 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C101254"}
is_a: MONDO:0005240 {source="DOID:2388", source="MONDO:Redundant", source="linkedlifedata"} ! kidney disease
is_a: MONDO:0005561 ! aortic disease
property_value: closeMatch http://identifiers.org/snomedct/197814004
property_value: closeMatch http://identifiers.org/snomedct/266559003
property_value: closeMatch NCIT:C35338
property_value: exactMatch DOID:2388
property_value: exactMatch http://identifiers.org/snomedct/16934004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3640053
property_value: exactMatch NCIT:C101254

[Term]
id: MONDO:0002287
name: glandular cystitis
def: "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells." [NCIT:P378]
synonym: "cystitis glandularis" RELATED [DOID:2392]
xref: DOID:2392 {source="MONDO:equivalentTo"}
xref: ICD9:595.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C39860 {source="MONDO:kboom-pr-1.00/0.76/8.63", source="MONDO:equivalentTo", source="DOID:2392"}
xref: SCTID:72815004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.40", source="DOID:2392"}
xref: UMLS:C0268837 {source="NCIT:C39860", source="MONDO:equivalentTo", source="DOID:2392"}
is_a: MONDO:0006030 {source="DOID:2392", source="NCIT:C39860/inferred"} ! chronic cystitis
property_value: exactMatch DOID:2392
property_value: exactMatch http://identifiers.org/snomedct/72815004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268837
property_value: exactMatch NCIT:C39860

[Term]
id: MONDO:0002288
name: obsolete ovarian cancer
is_obsolete: true
replaced_by: MONDO:0016245

[Term]
id: MONDO:0002289
name: iris disease
def: "A disease involving the iris." [MONDO:DesignPattern]
synonym: "disease of iris" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of iris" EXACT []
synonym: "disorder of iris" EXACT [MONDO:patterns/location_top]
synonym: "disorder of iris" RELATED [MONDO:patterns/location_top]
synonym: "iris disease" EXACT [MONDO:patterns/location]
synonym: "iris disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "iris disorder" EXACT [NCIT:C34737]
xref: DOID:240 {source="MONDO:equivalentTo"}
xref: MESH:D007499 {source="MONDO:equivalentTo", source="DOID:240", source="MONDO:ontobio"}
xref: NCIT:C34737 {source="MONDO:equivalentTo", source="DOID:240"}
xref: SCTID:85478004 {source="MONDO:equivalentTo", source="DOID:240"}
xref: UMLS:C0022078 {source="MONDO:equivalentTo", source="DOID:240"}
is_a: MONDO:0002661 {source="DOID:240", source="MESH:D007499", source="MONDO:Redundant", source="NCIT:C34737", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveal disease
property_value: closeMatch http://identifiers.org/snomedct/155116005
property_value: closeMatch http://identifiers.org/snomedct/267719008
property_value: exactMatch DOID:240
property_value: exactMatch http://identifiers.org/mesh/D007499
property_value: exactMatch http://identifiers.org/snomedct/85478004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022078
property_value: exactMatch NCIT:C34737

[Term]
id: MONDO:0002290
name: clitoris cancer
def: "A malignant neoplasm that affects the clitoris." [NCIT:C3557]
synonym: "cancer of clitoris" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of clitoris" EXACT [DOID:2401, NCIT:C9362]
synonym: "clitoral Ca" EXACT [DOID:2401, SCTID:93758009]
synonym: "clitoral cancer" EXACT EXCLUDE [DOID:2401]
synonym: "clitoris cancer" EXACT [MONDO:patterns/location]
synonym: "malignant clitoral neoplasm" EXACT [NCIT:C3557]
synonym: "malignant clitoral tumor" EXACT [NCIT:C3557]
synonym: "malignant clitoris neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3557]
synonym: "malignant clitoris tumor" EXACT [NCIT:C3557]
synonym: "malignant neoplasm of clitoris" EXACT [MONDO:patterns/cancer, NCIT:C3557]
synonym: "malignant neoplasm of the clitoris" EXACT [NCIT:C3557]
synonym: "malignant tumor of clitoris" EXACT [DOID:2401, NCIT:C3557]
synonym: "malignant tumor of the clitoris" EXACT [NCIT:C3557]
xref: DOID:2401 {source="MONDO:equivalentTo"}
xref: ICD10:C51.2 {source="DOID:2401"}
xref: ICD9:184.3 {source="MONDO:equivalentTo", source="DOID:2401", source="i2s"}
xref: NCIT:C3557 {source="MONDO:equivalentTo", source="DOID:2401"}
xref: SCTID:371979001 {source="MONDO:equivalentTo", source="DOID:2401"}
xref: UMLS:C0153589 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="DOID:2401", source="NCIT:C3557"}
is_a: MONDO:0001528 {source="DOID:2401", source="MONDO:Redundant", source="NCIT:C3557", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0024877 ! clitoris neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154535008
property_value: closeMatch http://identifiers.org/snomedct/188213003
property_value: closeMatch http://identifiers.org/snomedct/269604005
property_value: closeMatch http://identifiers.org/snomedct/93758009
property_value: exactMatch DOID:2401
property_value: exactMatch http://identifiers.org/snomedct/371979001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153589
property_value: exactMatch NCIT:C3557

[Term]
id: MONDO:0002291
name: cutaneous granular cell tumor
def: "A granular cell tumor that involves the zone of skin." [MONDO:patterns/location]
synonym: "cutaneous granular cell neoplasm" EXACT [NCIT:C5617]
synonym: "cutaneous granular cell tumor" EXACT [NCIT:C5617]
synonym: "granular cell neoplasm of skin" EXACT [NCIT:C5617]
synonym: "granular cell neoplasm of the skin" EXACT [DOID:2410, NCIT:C5617]
synonym: "granular cell skin tumor" EXACT [NCIT:C5617]
synonym: "granular cell tumor of skin" EXACT [NCIT:C5617]
synonym: "granular cell tumor of the skin" EXACT [NCIT:C5617]
synonym: "granular cell tumor of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin granular cell neoplasm" EXACT [NCIT:C5617]
synonym: "skin granular cell tumor" RELATED [DOID:2410]
synonym: "zone of skin granular cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:2410 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5617 {source="DOID:2410", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:254763007 {source="DOID:2410", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346060 {source="DOID:2410", source="MONDO:equivalentTo", source="NCIT:C5617"}
is_a: MONDO:0002300 {source="NCIT:C5617"} ! dermis tumor
is_a: MONDO:0006235 {source="DOID:2410", source="MONDO:Redundant", source="MONDOLEX:0002291", source="NCIT:C5617", source="linkedlifedata"} ! granular cell tumor
property_value: exactMatch DOID:2410
property_value: exactMatch http://identifiers.org/snomedct/254763007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346060
property_value: exactMatch NCIT:C5617

[Term]
id: MONDO:0002292
name: obsolete granular cell tumor
is_obsolete: true
replaced_by: MONDO:0006235

[Term]
id: MONDO:0002293
name: cutaneous ganglioneuroma
def: "A ganglioneuroma arising from the skin." [NCIT:C4481]
synonym: "cutaneous ganglioneuroma" EXACT [DOID:2425, NCIT:C4481]
synonym: "ganglioneuroma of skin" EXACT [NCIT:C4481]
synonym: "ganglioneuroma of the skin" EXACT [NCIT:C4481]
synonym: "skin ganglioneuroma" EXACT [NCIT:C4481]
xref: DOID:2425 {source="MONDO:equivalentTo"}
xref: NCIT:C4481 {source="MONDO:equivalentTo", source="DOID:2425", source="exact-label-match"}
xref: SCTID:254766004 {source="MONDO:equivalentTo", source="DOID:2425", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346063 {source="NCIT:C4481", source="MONDO:equivalentTo", source="DOID:2425"}
is_a: MONDO:0002531 {source="DOID:2425", source="MONDO:Entailed", source="NCIT:C4481/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm
is_a: MONDO:0005033 {source="NCIT:C4481", source="linkedlifedata"} ! ganglioneuroma (disease)
property_value: exactMatch DOID:2425
property_value: exactMatch http://identifiers.org/snomedct/254766004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346063
property_value: exactMatch NCIT:C4481

[Term]
id: MONDO:0002294
name: obsolete gangliocytoma
is_obsolete: true
replaced_by: MONDO:0016730

[Term]
id: MONDO:0002295
name: skin glomus tumor
def: "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site." [NCIT:P378]
synonym: "glomus neoplasm of skin" EXACT [NCIT:C4491]
synonym: "glomus neoplasm of the skin" EXACT [NCIT:C4491]
synonym: "glomus skin neoplasm" EXACT [DOID:2430, NCIT:C4491]
synonym: "glomus skin tumor" EXACT [NCIT:C4491]
synonym: "glomus tumor of skin" EXACT [NCIT:C4491]
synonym: "glomus tumor of the skin" EXACT [NCIT:C4491]
synonym: "skin glomus neoplasm" EXACT [NCIT:C4491]
synonym: "zone of skin glomus tumor" EXACT [MONDO:patterns/location]
xref: DOID:2430 {source="MONDO:equivalentTo"}
xref: NCIT:C4491 {source="MONDO:kboom-pr-1.00/0.91/26.33", source="DOID:2430", source="MONDO:equivalentTo"}
xref: SCTID:254795008 {source="MONDO:kboom-pr-1.00/0.91/28.13", source="DOID:2430", source="MONDO:equivalentTo"}
xref: UMLS:C0346083 {source="NCIT:C4491", source="DOID:2430", source="MONDO:equivalentTo"}
is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4491"} ! dermis tumor
is_a: MONDO:0018327 {source="DOID:2430", source="MONDO:Redundant", source="NCIT:C4491", source="linkedlifedata"} ! glomus tumor
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:2430"} ! skin cancer
property_value: exactMatch DOID:2430
property_value: exactMatch http://identifiers.org/snomedct/254795008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346083
property_value: exactMatch NCIT:C4491

[Term]
id: MONDO:0002296
name: obsolete glomus tumor
is_obsolete: true
replaced_by: MONDO:0018327

[Term]
id: MONDO:0002297
name: epidermal appendage tumor
def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:P378]
synonym: "adnexal neoplasm of skin" EXACT [NCIT:C4463]
synonym: "adnexal neoplasm of the skin" EXACT [NCIT:C4463]
synonym: "adnexal tumor of skin" EXACT [NCIT:C4463]
synonym: "adnexal tumor of the skin" EXACT [NCIT:C4463]
synonym: "cutaneous adnexal neoplasm" EXACT [NCIT:C4463]
synonym: "cutaneous appendage neoplasm" EXACT []
synonym: "cutaneous appendage neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cutaneous appendage tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Epidermal appendage neoplasm" EXACT [NCIT:C4463]
synonym: "Epidermal appendage tumor" EXACT [NCIT:C4463]
synonym: "neoplasm of cutaneous appendage" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Epidermal appendage" EXACT [NCIT:C4463]
synonym: "neoplasm of skin appendage" EXACT [NCIT:C4463]
synonym: "neoplasm of skin with adnexal differentiation" EXACT [DOID:2433]
synonym: "neoplasm of the skin appendage" EXACT [DOID:2433, NCIT:C4463]
synonym: "skin appendage neoplasm" EXACT [NCIT:C4463]
synonym: "skin appendage tumor" EXACT [NCIT:C4463]
synonym: "skin appendage tumour" EXACT [DOID:2433]
synonym: "tumor of cutaneous appendage" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Epidermal appendage" EXACT [NCIT:C4463]
synonym: "tumor of skin appendage" EXACT [NCIT:C4463]
synonym: "tumor of the skin appendage" EXACT [NCIT:C4463]
xref: DOID:2433 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4463 {source="MONDO:kboom-pr-1.00/0.91/27.36", source="DOID:2433", source="MONDO:equivalentTo"}
xref: SCTID:126489007 {source="DOID:2433", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0345988 {source="DOID:2433", source="NCIT:C4463", source="MONDO:equivalentTo"}
is_a: MONDO:0002531 {source="DOID:2433", source="MONDOLEX:0002297", source="NCIT:C4463", source="linkedlifedata"} ! skin neoplasm
is_a: MONDO:0024481 ! skin appendage disease
property_value: closeMatch http://identifiers.org/snomedct/55681005
property_value: exactMatch DOID:2433
property_value: exactMatch http://identifiers.org/snomedct/126489007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345988
property_value: exactMatch NCIT:C4463

[Term]
id: MONDO:0002298
name: cutaneous glomangioma
def: "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells." [NCIT:C6750]
synonym: "cutaneous glomangioma" EXACT [DOID:2435, NCIT:C6750]
synonym: "glomangioma of skin" EXACT [NCIT:C6750]
synonym: "glomangioma of the skin" EXACT [NCIT:C6750]
synonym: "skin glomangioma" EXACT [NCIT:C6750]
synonym: "zone of skin glomangioma" EXACT [MONDO:patterns/location]
xref: DOID:2435 {source="MONDO:equivalentTo"}
xref: NCIT:C6750 {source="DOID:2435", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.31"}
xref: SCTID:403970001 {source="DOID:2435", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275226 {source="NCIT:C6750", source="DOID:2435", source="MONDO:equivalentTo"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="NCIT:C6750"} ! skin glomus tumor
is_a: MONDO:0002299 {source="DOID:2435", source="MONDO:Redundant", source="NCIT:C6750"} ! glomangioma
property_value: exactMatch DOID:2435
property_value: exactMatch http://identifiers.org/snomedct/403970001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275226
property_value: exactMatch NCIT:C6750

[Term]
id: MONDO:0002299
name: glomangioma
def: "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." [NCIT:C4222]
synonym: "glomangioma" EXACT [NCIT:C4222]
xref: DOID:2436 {source="MONDO:equivalentTo"}
xref: ICDO:8712/0 {source="NCIT:C4222"}
xref: NCIT:C4222 {source="MONDO:equivalentTo", source="DOID:2436", source="exact-label-match"}
xref: UMLS:C0334421 {source="MONDO:equivalentTo", source="NCIT:C4222", source="DOID:2436"}
is_a: MONDO:0018327 {source="NCIT:C4222"} ! glomus tumor
property_value: closeMatch http://identifiers.org/snomedct/7429002
property_value: exactMatch DOID:2436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334421
property_value: exactMatch NCIT:C4222

[Term]
id: MONDO:0002300
name: dermis tumor
def: "A benign, intermediate, or malignant neoplasm that arises from the dermis." [NCIT:P378]
synonym: "dermal neoplasm" EXACT [NCIT:C4475]
synonym: "dermal tumor" EXACT [NCIT:C4475]
synonym: "dermis neoplasm" EXACT []
synonym: "dermis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "dermis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475]
synonym: "neoplasm of the dermis" EXACT [NCIT:C4475]
synonym: "tumor of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475]
synonym: "tumor of the dermis" EXACT [NCIT:C4475]
xref: DOID:2438 {source="MONDO:equivalentTo"}
xref: NCIT:C4475 {source="MONDO:equivalentTo", source="DOID:2438", source="MONDO:kboom-pr-1.00/0.91/28.77"}
xref: UMLS:C0346041 {source="MONDO:equivalentTo", source="NCIT:C4475", source="DOID:2438"}
is_a: MONDO:0002531 {source="DOID:2438", source="NCIT:C4475"} ! skin neoplasm
is_a: MONDO:0021154 ! dermis disease
property_value: closeMatch http://identifiers.org/snomedct/254735005
property_value: exactMatch DOID:2438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346041
property_value: exactMatch NCIT:C4475

[Term]
id: MONDO:0002301
name: frontal sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
synonym: "epidermoid carcinoma of frontal sinus" EXACT [NCIT:C6067]
synonym: "epidermoid carcinoma of the frontal sinus" EXACT [DOID:2441, NCIT:C6067]
synonym: "frontal sinus epidermoid carcinoma" EXACT [NCIT:C6067]
synonym: "frontal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of frontal sinus" EXACT [NCIT:C6067]
synonym: "squamous cell carcinoma of the frontal sinus" EXACT [NCIT:C6067]
xref: DOID:2441 {source="MONDO:equivalentTo"}
xref: NCIT:C6067 {source="DOID:2441", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:707356001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C1333646 {source="NCIT:C6067", source="DOID:2441", source="MONDO:equivalentTo"}
is_a: MONDO:0001756 {source="DOID:2441", source="MONDO:Redundant", source="NCIT:C6067", source="linkedlifedata", source="linkedlifedata/inferred"} ! frontal sinus cancer
is_a: MONDO:0044705 ! paranasal sinus squamous cell carcinoma
property_value: exactMatch DOID:2441
property_value: exactMatch http://identifiers.org/snomedct/707356001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333646
property_value: exactMatch NCIT:C6067

[Term]
id: MONDO:0002302
name: obsolete acromegaly
is_obsolete: true
replaced_by: MONDO:0019933

[Term]
id: MONDO:0002303
name: central retinal vein occlusion
def: "Blockage of the central retinal vein." [NCIT:P378]
synonym: "central retinal vein retinal vein occlusion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central retinal Venous occlusion" EXACT [NCIT:C118859]
synonym: "retinal vein occlusion of central retinal vein" EXACT [MONDO:design_pattern]
xref: COHD:313761 {source="MONDO:equivalentTo"}
xref: DOID:2450 {source="MONDO:equivalentTo"}
xref: ICD10:H34.81 {source="DOID:2450"}
xref: ICD9:362.35 {source="DOID:2450", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C118859 {source="DOID:2450", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:68478007 {source="DOID:2450", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154841 {source="DOID:2450", source="MONDO:equivalentTo", source="NCIT:C118859"}
is_a: MONDO:0002602 ! central nervous system disease
is_a: MONDO:0004634 ! vein disease
is_a: MONDO:0006951 {source="DOID:2450", source="MONDO:Redundant", source="NCIT:C118859", source="linkedlifedata"} ! retinal vein occlusion
property_value: closeMatch http://identifiers.org/snomedct/193378003
property_value: exactMatch DOID:2450
property_value: exactMatch http://identifiers.org/snomedct/68478007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154841
property_value: exactMatch NCIT:C118859

[Term]
id: MONDO:0002304
name: protein S deficiency
def: "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis . People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." [https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency]
comment: Editor note: TODO axiomatize
subset: gard_rare {source="GARD:0004524"}
synonym: "Protein S deficiency" EXACT [DOID:2451, MTHICD9_2006:289.81]
synonym: "Protein S deficiency disease" EXACT [NCIT:C99026]
xref: DOID:2451 {source="MONDO:equivalentTo"}
xref: GARD:0004524 {source="MONDO:equivalentTo"}
xref: HGNC:9456 {source="GARD:0004524"}
xref: ICD10:D68.59 {source="DOID:2451"}
xref: ICD9:289.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018455 {source="DOID:2451", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99026 {source="DOID:2451", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:1563006 {source="DOID:2451", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0242666 {source="DOID:2451", source="MONDO:equivalentTo", source="NCIT:C99026"}
is_a: MONDO:0002305 {source="DOID:2451", source="MESH:D018455", source="NCIT:C99026", source="linkedlifedata"} ! thrombophilia
is_a: MONDO:0003804 {source="DOID:2451", source="MESH:D018455"} ! blood protein disease
property_value: exactMatch DOID:2451
property_value: exactMatch http://identifiers.org/mesh/D018455
property_value: exactMatch http://identifiers.org/snomedct/1563006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242666
property_value: exactMatch NCIT:C99026
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency xsd:anyURI {source="GARD:0004524"}

[Term]
id: MONDO:0002305
name: thrombophilia
def: "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." [NCIT:P378]
synonym: "excessive blood clotting" EXACT [NCIT:C84479]
synonym: "hypercoagulability" EXACT [NCIT:C84479]
synonym: "hypercoagulability state" EXACT [DOID:2452]
synonym: "hypercoagulable" EXACT [NCIT:C84479]
xref: COHD:4295287 {source="MONDO:equivalentTo"}
xref: DOID:2452 {source="MONDO:equivalentTo"}
xref: ICD10:D68.59 {source="DOID:2452"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019851 {source="DOID:2452", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84479 {source="DOID:2452", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:188050 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:234467004 {source="DOID:2452", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0398623 {source="NCIT:C84479", source="MEDGEN:kboom-pr98-c99", source="DOID:2452", source="MONDO:equivalentTo"}
is_a: MONDO:0001531 {source="DOID:2452", source="NCIT:C84479"} ! blood coagulation disease
property_value: closeMatch http://identifiers.org/snomedct/191302007
property_value: closeMatch http://identifiers.org/snomedct/76612001
property_value: exactMatch DOID:2452
property_value: exactMatch http://identifiers.org/mesh/D019851
property_value: exactMatch http://identifiers.org/snomedct/234467004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398623
property_value: exactMatch NCIT:C84479

[Term]
id: MONDO:0002306
name: angular blepharoconjunctivitis
def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." [DOID:2455, http://dro.hs.columbia.edu/angbleph.htm]
xref: COHD:375283 {source="MONDO:equivalentTo"}
xref: DOID:2455 {source="MONDO:equivalentTo"}
xref: ICD10:H10.52 {source="DOID:2455"}
xref: ICD9:372.21 {source="DOID:2455", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:69397000 {source="DOID:2455", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155149 {source="DOID:2455", source="MONDO:equivalentTo"}
is_a: MONDO:0002307 {source="DOID:2455", source="MONDOLEX:0002306", source="linkedlifedata"} ! blepharoconjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193871000
property_value: exactMatch DOID:2455
property_value: exactMatch http://identifiers.org/snomedct/69397000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155149

[Term]
id: MONDO:0002307
name: blepharoconjunctivitis
def: "Inflammation of both the eyelids and the conjunctiva." [NCIT:P378]
xref: COHD:374347 {source="MONDO:equivalentTo"}
xref: DOID:2456 {source="MONDO:equivalentTo"}
xref: ICD10:H10.5 {source="MONDO:equivalentTo", source="DOID:2456"}
xref: ICD10:H10.50 {source="DOID:2456"}
xref: ICD9:372.2 {source="DOID:2456"}
xref: ICD9:372.20 {source="MONDO:equivalentTo", source="DOID:2456", source="i2s"}
xref: NCIT:C34430 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2456"}
xref: SCTID:68659002 {source="MONDO:equivalentTo", source="DOID:2456", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0005743 {source="MONDO:equivalentTo", source="DOID:2456", source="NCIT:C34430"}
is_a: MONDO:0003799 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! conjunctivitis (disease)
is_a: MONDO:0004785 {source="DOID:2456", source="MONDO:Redundant", source="linkedlifedata"} ! blepharitis
property_value: closeMatch http://identifiers.org/snomedct/155164001
property_value: closeMatch http://identifiers.org/snomedct/193870004
property_value: closeMatch http://identifiers.org/snomedct/193873002
property_value: exactMatch DOID:2456
property_value: exactMatch http://identifiers.org/snomedct/68659002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005743
property_value: exactMatch NCIT:C34430

[Term]
id: MONDO:0002308
name: giant papillary conjunctivitis
def: "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." [NCIT:P378]
subset: gard_rare {source="GARD:0008445"}
synonym: "GPC" RELATED [GARD:0008445]
xref: DOID:2457 {source="MONDO:equivalentTo"}
xref: GARD:0008445 {source="MONDO:equivalentTo"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34507 {source="DOID:2457", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:231857004 {source="DOID:2457", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0009769 {source="NCIT:C34507", source="DOID:2457", source="MONDO:equivalentTo"}
is_a: MONDO:0002307 {source="DOID:2457", source="linkedlifedata"} ! blepharoconjunctivitis
is_a: MONDO:0002309 {source="DOID:2457", source="MONDOLEX:0002308", source="NCIT:C34507"} ! papillary conjunctivitis
property_value: closeMatch http://identifiers.org/mesh/D003233
property_value: exactMatch DOID:2457
property_value: exactMatch http://identifiers.org/snomedct/231857004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009769
property_value: exactMatch NCIT:C34507
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis xsd:anyURI {source="GARD:0008445"}

[Term]
id: MONDO:0002309
name: papillary conjunctivitis
def: "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." [NCIT:P378]
xref: DOID:2458 {source="MONDO:equivalentTo"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35616 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2458"}
xref: SCTID:416878008 {source="MONDO:equivalentTo", source="DOID:2458", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0854165 {source="MONDO:equivalentTo", source="DOID:2458", source="NCIT:C35616"}
is_a: MONDO:0003799 {source="DOID:2458", source="NCIT:C35616", source="linkedlifedata", source="linkedlifedata/inferred"} ! conjunctivitis (disease)
property_value: exactMatch DOID:2458
property_value: exactMatch http://identifiers.org/snomedct/416878008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854165
property_value: exactMatch NCIT:C35616

[Term]
id: MONDO:0002310
name: anterior dislocation of lens
xref: COHD:374956 {source="MONDO:equivalentTo"}
xref: DOID:2460 {source="MONDO:equivalentTo"}
xref: ICD10:H27.12 {source="DOID:2460"}
xref: ICD9:379.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:2460"}
xref: SCTID:37283009 {source="MONDO:equivalentTo", source="DOID:2460", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155372 {source="MONDO:equivalentTo", source="DOID:2460"}
is_a: MONDO:0001524 {source="DOID:2460"} ! globe disease
property_value: closeMatch http://identifiers.org/snomedct/194160006
property_value: exactMatch DOID:2460
property_value: exactMatch http://identifiers.org/snomedct/37283009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155372

[Term]
id: MONDO:0002311
name: retinal vascular disease
def: "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." [NCIT:C35170]
synonym: "retina circulation disorder" EXACT [CSP2005:1114-7471, DOID:2462]
synonym: "retinal vascular disorder" EXACT [NCIT:C35170]
xref: COHD:434337 {source="MONDO:equivalentTo"}
xref: DOID:2462 {source="MONDO:equivalentTo"}
xref: ICD9:362.13 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35170 {source="DOID:2462", source="MONDO:equivalentTo"}
xref: SCTID:57534004 {source="DOID:2462", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154833 {source="DOID:2462", source="MONDO:equivalentTo", source="NCIT:C35170"}
is_a: MONDO:0005283 {source="DOID:2462", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
is_a: MONDO:0005552 ! ocular vascular disease
is_a: MONDO:0020676 {source="MONDO:cjm"} ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:2462
property_value: exactMatch http://identifiers.org/snomedct/57534004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154833
property_value: exactMatch NCIT:C35170

[Term]
id: MONDO:0002312
name: opportunistic mycosis
def: "A mycosis that arises from infection in an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "opportunistic mycoses" EXACT [DOID:2473]
synonym: "opportunistic systemic mycoses" NARROW [DOID:2473]
xref: COHD:432248 {source="MONDO:equivalentTo"}
xref: DOID:2473 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:118 {source="DOID:2473", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:78999002 {source="DOID:2473", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0029119 {source="DOID:2473", source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="DOID:2473/inferred", source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902", source="linkedlifedata"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious
relationship: excluded_subClassOf MONDO:0000256 {source="DOID:2473"} ! systemic mycosis
relationship: has_modifier MONDO:0045035 ! opportunistic infectious
property_value: closeMatch http://identifiers.org/snomedct/187108005
property_value: exactMatch DOID:2473
property_value: exactMatch http://identifiers.org/snomedct/78999002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029119

[Term]
id: MONDO:0002313
name: vernal conjunctivitis
def: "Inflammation of the cornea that is seasonal in nature." [NCIT:P378]
xref: COHD:377559 {source="MONDO:equivalentTo"}
xref: DOID:2474 {source="MONDO:equivalentTo"}
xref: ICD10:H10.44 {source="DOID:2474", source="MONDO:equivalentTo"}
xref: ICD9:372.13 {source="DOID:2474", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34508 {source="DOID:2474", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:318316003 {source="DOID:2474", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0009773 {source="DOID:2474", source="NCIT:C34508", source="MONDO:equivalentTo"}
is_a: MONDO:0002314 {source="DOID:2474", source="ICD10:H10.44", source="NCIT:C34508"} ! chronic conjunctivitis
property_value: closeMatch http://identifiers.org/mesh/D003233
property_value: closeMatch http://identifiers.org/snomedct/193774003
property_value: closeMatch http://identifiers.org/snomedct/193867003
property_value: closeMatch http://identifiers.org/snomedct/20212001
property_value: exactMatch DOID:2474
property_value: exactMatch http://identifiers.org/snomedct/318316003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009773
property_value: exactMatch NCIT:C34508

[Term]
id: MONDO:0002314
name: chronic conjunctivitis
def: "Conjunctivitis that is persistent and long-standing." [NCIT:P378]
synonym: "chronic conjunctivitis" EXACT [DOID:2475, NCIT:C35197]
synonym: "chronic conjunctivitis (disease)" EXACT []
synonym: "chronic conjunctivitis, unspecified" EXACT [DOID:2475, ICD9CM_2006:372.10]
synonym: "conjunctivitis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:374036 {source="MONDO:equivalentTo"}
xref: DOID:2475 {source="MONDO:equivalentTo"}
xref: ICD10:H10.4 {source="DOID:2475", source="MONDO:equivalentTo"}
xref: ICD10:H10.40 {source="DOID:2475"}
xref: ICD9:372.1 {source="DOID:2475"}
xref: ICD9:372.10 {source="DOID:2475", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35197 {source="DOID:2475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:73762008 {source="DOID:2475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155145 {source="DOID:2475", source="NCIT:C35197", source="MONDO:equivalentTo"}
is_a: MONDO:0003799 {source="DOID:2475", source="MONDO:Redundant", source="NCIT:C35197", source="linkedlifedata"} ! conjunctivitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155163007
property_value: closeMatch http://identifiers.org/snomedct/193865006
property_value: closeMatch http://identifiers.org/snomedct/193869000
property_value: exactMatch DOID:2475
property_value: exactMatch http://identifiers.org/snomedct/73762008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155145
property_value: exactMatch NCIT:C35197

[Term]
id: MONDO:0002315
name: obsolete hereditary spastic paraplegia
is_obsolete: true
replaced_by: MONDO:0019064

[Term]
id: MONDO:0002316
name: motor peripheral neuropathy
def: "Inflammation or degeneration of the peripheral motor nerves." [NCIT:C3500]
synonym: "hereditary motor and sensory neuropathy" NARROW [DOID:2477]
synonym: "HSMN" NARROW [DOID:2477]
synonym: "HSMN - hereditary sensory and motor neuropathy" NARROW [DOID:2477]
synonym: "neuropathic muscular atrophy" RELATED [CSP2005:2042-7637, DOID:2477]
synonym: "peripheral motor neuropathy" EXACT [NCIT:C3500]
xref: DOID:2477 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:2477"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3500 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.84/0.95"}
xref: SCTID:95663000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="DOID:2477", source="MONDOLEX:0002316", source="NCIT:C3500", source="NCIT:C3500/inferred", source="linkedlifedata"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/128202008
property_value: closeMatch http://identifiers.org/snomedct/155081008
property_value: closeMatch http://identifiers.org/snomedct/193158000
property_value: closeMatch http://identifiers.org/snomedct/193160003
property_value: closeMatch http://identifiers.org/snomedct/193161004
property_value: exactMatch DOID:2477
property_value: exactMatch http://identifiers.org/snomedct/95663000
property_value: exactMatch NCIT:C3500

[Term]
id: MONDO:0002317
name: central nervous system origin vertigo
def: "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" [MESH:D014717]
synonym: "central vestibular vertigo" EXACT [DOID:2479]
synonym: "vertigo of central origin" EXACT [DOID:2479, ICD9CM_2006:386.2]
xref: COHD:381035 {source="MONDO:equivalentTo"}
xref: DOID:2479 {source="MONDO:equivalentTo"}
xref: ICD10:H81.4 {source="DOID:2479"}
xref: ICD10:H81.49 {source="DOID:2479"}
xref: ICD9:386.2 {source="DOID:2479", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:38403006 {source="MONDO:kboom-pr-0.92/0.83/0.18", source="DOID:2479", source="MONDO:equivalentTo"}
xref: UMLS:C0155503 {source="DOID:2479", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:2479", source="linkedlifedata"} ! brain disease
property_value: closeMatch http://identifiers.org/mesh/D014717
property_value: closeMatch http://identifiers.org/snomedct/194362009
property_value: closeMatch http://identifiers.org/snomedct/20425006
property_value: exactMatch DOID:2479
property_value: exactMatch http://identifiers.org/snomedct/38403006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155503

[Term]
id: MONDO:0002318
name: trachea leiomyoma
def: "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of the trachea" EXACT [DOID:248, NCIT:C6049]
synonym: "leiomyoma of trachea" EXACT [NCIT:C6049]
synonym: "neoplasm of trachea" EXACT EXCLUDE [DOID:248]
synonym: "trachea leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6049]
synonym: "trachea neoplasm" BROAD [CSP2005:2017-6768, DOID:248]
synonym: "tracheal leiomyoma" EXACT [NCIT:C6049]
synonym: "tracheal neoplasm" BROAD [DOID:248]
synonym: "tracheal tumor" BROAD [DOID:248, NCIT:C3419]
xref: DOID:248 {source="MONDO:equivalentTo"}
xref: NCIT:C6049 {source="DOID:248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.73"}
xref: SCTID:126703006 {source="DOID:248", source="MONDO:kboom-pr-0.97/0.74/3.06", source="MONDO:equivalentTo"}
xref: UMLS:C1336772 {source="DOID:248", source="MONDO:equivalentTo", source="NCIT:C6049"}
is_a: MONDO:0001572 {source="DOID:248", source="MONDO:Redundant", source="NCIT:C6049"} ! leiomyoma
is_a: MONDO:0021517 {source="MONDO:Redundant", source="NCIT:C6049"} ! benign neoplasm of trachea
property_value: exactMatch DOID:248
property_value: exactMatch http://identifiers.org/snomedct/126703006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336772
property_value: exactMatch NCIT:C6049

[Term]
id: MONDO:0002319
name: phosphorus metabolism disease
def: "A metabolic disorder that affects the phosphate homeostasis." [NCIT:C97095]
synonym: "disorder of phosphorus metabolism" EXACT [DOID:2485, ICD9CM_2006:275.3]
synonym: "phosphorus disorder" EXACT [DOID:2485]
synonym: "phosphorus metabolic disorder" EXACT [NCIT:C97095]
synonym: "phosphorus metabolism disorder" EXACT [CSP2005:0531-8952, DOID:2485]
xref: COHD:435788 {source="MONDO:equivalentTo"}
xref: DOID:2485 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:equivalentTo"}
xref: ICD9:275.3 {source="DOID:2485", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010760 {source="DOID:2485", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97095 {source="DOID:2485", source="MONDO:equivalentTo"}
xref: SCTID:87049008 {source="DOID:2485", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031707 {source="DOID:2485", source="NCIT:C97095", source="MONDO:equivalentTo"}
is_a: MONDO:0000226 {source="DOID:2485", source="ICD10:E83.3", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! mineral metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/154752005
property_value: closeMatch http://identifiers.org/snomedct/190858002
property_value: closeMatch http://identifiers.org/snomedct/190862008
property_value: closeMatch http://identifiers.org/snomedct/267505006
property_value: exactMatch DOID:2485
property_value: exactMatch http://identifiers.org/mesh/D010760
property_value: exactMatch http://identifiers.org/snomedct/87049008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031707
property_value: exactMatch NCIT:C97095

[Term]
id: MONDO:0002320
name: congenital nervous system disorder
def: "An abnormality of the nervous system that is present at birth or detected in the neonatal period." [NCIT:C97172]
synonym: "congenital abnormality of the nervous system" EXACT [NCIT:C97172]
synonym: "congenital nervous system disorder" EXACT [NCIT:C97172]
synonym: "congenital neurologic anomaly" EXACT [DOID:2490]
xref: DOID:2490 {source="MONDO:equivalentTo"}
xref: ICD9:742 {source="DOID:2490"}
xref: NCIT:C97172 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
relationship: excluded_subClassOf MONDO:0000839 {source="DOID:2490"} ! congenital abnormality
relationship: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch http://identifiers.org/snomedct/204018008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158538
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0497552
property_value: exactMatch DOID:2490
property_value: exactMatch NCIT:C97172

[Term]
id: MONDO:0002321
name: sensory peripheral neuropathy
def: "Inflammation or degeneration of the sensory nerves." [NCIT:C3501]
synonym: "peripheral neuropathy of sensory nerve" EXACT [MONDO:design_pattern]
synonym: "peripheral sensory neuropathy" EXACT [DOID:2491, NCIT:C3501]
synonym: "sensory nerve peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "sensory neuropathy" EXACT [CSP2005:4007-0113, DOID:2491]
xref: DOID:2491 {source="MONDO:equivalentTo"}
xref: ICD9:356.2 {source="MONDO:superClassOf", source="DOID:2491"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3501 {source="MONDO:equivalentTo", source="DOID:2491", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:95662005 {source="MONDO:equivalentTo", source="DOID:2491", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0151313 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3501", source="DOID:2491"}
is_a: MONDO:0005244 {source="DOID:2491", source="MONDO:Redundant", source="MONDOLEX:0002321", source="NCIT:C3501", source="NCIT:C3501/inferred", source="linkedlifedata"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/193163001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0699739
property_value: exactMatch DOID:2491
property_value: exactMatch http://identifiers.org/snomedct/95662005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151313
property_value: exactMatch NCIT:C3501

[Term]
id: MONDO:0002322
name: angiodysplasia
def: "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." [MESH:D016888]
synonym: "angiodysplasia of stomach and duodenum with hemorrhage" NARROW [DOID:2494]
xref: DOID:2494 {source="MONDO:equivalentTo"}
xref: ICD9:537.83 {source="DOID:2494"}
xref: MESH:D016888 {source="DOID:2494", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:90858003 {source="MONDO:equivalentTo"}
xref: UMLS:C0085411 {source="DOID:2494", source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005385 {source="DOID:2494", source="MESH:D016888", source="linkedlifedata/inferred"} ! vascular disease
property_value: closeMatch http://identifiers.org/snomedct/71072006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156091
property_value: exactMatch DOID:2494
property_value: exactMatch http://identifiers.org/mesh/D016888
property_value: exactMatch http://identifiers.org/snomedct/90858003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085411

[Term]
id: MONDO:0002323
name: cherry hemangioma
def: "A capillary hemangioma of the skin, presenting as a red papular lesion." [NCIT:C4390]
synonym: "cherry angioma" EXACT [NCIT:C4390]
synonym: "cherry hemangioma" EXACT [NCIT:C4390]
synonym: "Senile angioma" EXACT [NCIT:C4390]
synonym: "Senile hemangioma" EXACT [DOID:2495, NCIT:C4390]
synonym: "Senile naevus of skin" EXACT [DOID:2495]
xref: DOID:2495 {source="MONDO:equivalentTo"}
xref: NCIT:C4390 {source="DOID:2495", source="MONDO:equivalentTo"}
xref: SCTID:5050001 {source="DOID:2495", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343082 {source="DOID:2495", source="MONDO:equivalentTo", source="NCIT:C4390"}
is_a: MONDO:0002407 {source="NCIT:C4390"} ! capillary hemangioma
is_a: MONDO:0003110 {source="MONDO:Redundant", source="NCIT:C4390", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! skin hemangioma
property_value: closeMatch http://identifiers.org/snomedct/11790000
property_value: exactMatch DOID:2495
property_value: exactMatch http://identifiers.org/snomedct/5050001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343082
property_value: exactMatch NCIT:C4390

[Term]
id: MONDO:0002324
name: obsolete enamel erosion
comment: obsolete as not a disease
xref: DOID:2497 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:521.31 {source="DOID:2497"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456161
property_value: exactMatch DOID:2497
is_obsolete: true

[Term]
id: MONDO:0002325
name: tooth erosion, non-bacterial
def: "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077-modified]
synonym: "generalized erosion" RELATED [DOID:2498]
synonym: "localized erosion" RELATED [DOID:2498]
synonym: "tooth erosion" EXACT [DOID:2498]
xref: DOID:2498 {source="MONDO:equivalentTo"}
xref: ICD10:K03.2 {source="DOID:2498"}
xref: ICD9:521.3 {source="DOID:2498", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:521.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:521.34 {source="DOID:2498"}
xref: ICD9:521.35 {source="DOID:2498"}
xref: MESH:D014077 {source="DOID:2498", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:82212003 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="DOID:2498", source="MONDO:equivalentTo"}
xref: UMLS:C0040436 {source="DOID:2498", source="MONDO:equivalentTo"}
is_a: MONDO:0006999 {source="DOID:2498/inferred", source="MESH:D014077/inferred", source="linkedlifedata/inferred"} ! tooth disease
relationship: excluded_subClassOf MONDO:0002220 {source="DOID:2498"} ! tooth hard tissue disease
property_value: closeMatch http://identifiers.org/snomedct/155634008
property_value: closeMatch http://identifiers.org/snomedct/196315004
property_value: closeMatch http://identifiers.org/snomedct/266486000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456164
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456165
property_value: exactMatch DOID:2498
property_value: exactMatch http://identifiers.org/mesh/D014077
property_value: exactMatch http://identifiers.org/snomedct/82212003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040436

[Term]
id: MONDO:0002326
name: alcohol-induced mental disorder
xref: DOID:251 {source="MONDO:equivalentTo"}
xref: ICD9:291.8 {source="DOID:251"}
xref: ICD9:291.89 {source="DOID:251"}
is_a: MONDO:0005084 ! mental disorder
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:251"} ! substance-induced psychosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456283
property_value: exactMatch DOID:251

[Term]
id: MONDO:0002327
name: intracranial cavernous angioma
def: "A cavernous hemangioma arising from the brain and meninges." [NCIT:P378]
synonym: "intracranial cavernoma" EXACT [DOID:2516, NCIT:C5432]
synonym: "intracranial cavernous angioma" EXACT [NCIT:C5432]
synonym: "intracranial cavernous hemangioma" EXACT [NCIT:C5432]
xref: DOID:2516 {source="MONDO:equivalentTo"}
xref: NCIT:C5432 {source="MONDO:equivalentTo", source="DOID:2516", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:445513004 {source="MONDO:equivalentTo", source="DOID:2516"}
xref: UMLS:C1334237 {source="MONDO:equivalentTo", source="NCIT:C5432", source="DOID:2516"}
is_a: MONDO:0002328 {source="DOID:2516", source="NCIT:C5432"} ! intracranial hemangioma
is_a: MONDO:0003155 {source="DOID:2516", source="MONDOLEX:0002327", source="NCIT:C5432/inferred", source="linkedlifedata"} ! cavernous hemangioma
is_a: MONDO:0003641 ! central nervous system hematopoietic neoplasm
property_value: exactMatch DOID:2516
property_value: exactMatch http://identifiers.org/snomedct/445513004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334237
property_value: exactMatch NCIT:C5432

[Term]
id: MONDO:0002328
name: intracranial hemangioma
def: "A hemangioma arising from the brain and meninges." [NCIT:C3633]
synonym: "angioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633]
synonym: "angioma of the intracranial structure" EXACT [NCIT:C3633]
synonym: "brain hemangioma" EXACT [MONDO:patterns/location]
synonym: "hemangioma of brain" EXACT [MONDO:design_pattern]
synonym: "hemangioma of intracranial structure" EXACT [NCIT:C3633]
synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD9CM_2006:228.02]
synonym: "hemangioma of the intracranial structure" EXACT [NCIT:C3633]
synonym: "intracranial angioma" EXACT [NCIT:C3633]
synonym: "intracranial hemangioma" EXACT [NCIT:C3633]
synonym: "intracranial structure hemangioma" RELATED [DOID:2517]
xref: COHD:441246 {source="MONDO:equivalentTo"}
xref: DOID:2517 {source="MONDO:equivalentTo"}
xref: ICD10:D18.02 {source="MONDO:equivalentTo", source="DOID:2517"}
xref: ICD9:228.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:2517"}
xref: NCIT:C3633 {source="MONDO:equivalentTo", source="DOID:2517"}
xref: SCTID:93468003 {source="MONDO:equivalentTo", source="DOID:2517", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154050 {source="MONDO:equivalentTo", source="NCIT:C3633", source="DOID:2517"}
is_a: MONDO:0003241 ! central nervous system hemangioma
is_a: MONDO:0021451 ! benign neoplasm of brain
property_value: closeMatch http://identifiers.org/snomedct/189196005
property_value: exactMatch DOID:2517
property_value: exactMatch http://identifiers.org/snomedct/93468003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154050
property_value: exactMatch NCIT:C3633

[Term]
id: MONDO:0002329
name: testicular disease
def: "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." [NCIT:C26890]
synonym: "disease of testis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of testis" EXACT []
synonym: "disorder of testis" EXACT [DOID:2519, MONDO:patterns/location_top]
synonym: "disorder of testis" RELATED [MONDO:patterns/location_top]
synonym: "testicular disease" EXACT [NCIT:C26890]
synonym: "testicular disorder" EXACT [NCIT:C26890]
synonym: "testis disease" EXACT [MONDO:patterns/location]
synonym: "testis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "testis disorder" EXACT [CSP2005:2587-6706, DOID:2519]
xref: DOID:2519 {source="MONDO:equivalentTo"}
xref: ICD9:608.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013733 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2519"}
xref: NCIT:C26890 {source="NCIT:C26890", source="MONDO:equivalentTo", source="DOID:2519"}
xref: SCTID:64910008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.75/1.11", source="DOID:2519"}
xref: UMLS:C0039584 {source="NCIT:C26890", source="MONDO:equivalentTo", source="DOID:2519"}
is_a: MONDO:0002259 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant", source="OWLReasoner:2017"} ! gonadal disease
is_a: MONDO:0003150 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant", source="NCIT:C26890", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/236763001
property_value: closeMatch http://identifiers.org/snomedct/297228003
property_value: exactMatch DOID:2519
property_value: exactMatch http://identifiers.org/mesh/D013733
property_value: exactMatch http://identifiers.org/snomedct/64910008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039584
property_value: exactMatch NCIT:C26890

[Term]
id: MONDO:0002330
name: alcoholic psychosis
def: "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." [MESH:D011604]
synonym: "alcoholic psychoses" EXACT [DOID:252]
xref: DOID:252 {source="MONDO:equivalentTo"}
xref: EFO:1001260 {source="MONDO:equivalentTo"}
xref: ICD9:291.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:291.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:291.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:252"}
xref: MESH:D011604 {source="MONDO:equivalentTo", source="DOID:252", source="MONDO:ontobio"}
xref: SCTID:42344001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.76", source="DOID:252"}
is_a: MONDO:0002326 {source="DOID:252", source="MONDO:Redundant"} ! alcohol-induced mental disorder
is_a: MONDO:0005485 ! psychotic disorder
is_a: MONDO:0021698 {source="MESH:D011604", source="MESH:D011604/inferred", source="linkedlifedata"} ! alcohol-related disorders
property_value: closeMatch http://identifiers.org/snomedct/154852003
property_value: closeMatch http://identifiers.org/snomedct/191482008
property_value: closeMatch http://identifiers.org/snomedct/192212000
property_value: closeMatch http://identifiers.org/snomedct/268684002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033936
property_value: exactMatch DOID:252
property_value: exactMatch http://identifiers.org/mesh/D011604
property_value: exactMatch http://identifiers.org/snomedct/42344001

[Term]
id: MONDO:0002331
name: nephrosis
def: "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." [MESH:D009401]
synonym: "Nephroses" EXACT [MESH:D009401]
xref: DOID:2527 {source="MONDO:equivalentTo"}
xref: MESH:D009401 {source="MONDO:equivalentTo", source="DOID:2527", source="MONDO:ontobio"}
xref: UMLS:C0027720 {source="MONDO:equivalentTo", source="DOID:2527"}
is_a: MONDO:0005240 {source="DOID:2527", source="MESH:D009401"} ! kidney disease
property_value: exactMatch DOID:2527
property_value: exactMatch http://identifiers.org/mesh/D009401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027720

[Term]
id: MONDO:0002332
name: splenic disease
def: "A disease involving the spleen." [MONDO:DesignPattern]
synonym: "disease of spleen" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of spleen" EXACT []
synonym: "disorder of spleen" EXACT [MONDO:patterns/location_top]
synonym: "disorder of spleen" RELATED [MONDO:patterns/location_top]
synonym: "Dyssplenism" EXACT [DOID:2529]
synonym: "spleen disease" EXACT [DOID:2529, MONDO:patterns/location]
synonym: "spleen disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spleen disorder" EXACT [NCIT:C35823]
synonym: "splenic disease" EXACT []
synonym: "splenic disorder" RELATED []
xref: DOID:2529 {source="MONDO:equivalentTo"}
xref: EFO:0009002 {source="MONDO:equivalentTo"}
xref: ICD10:D73 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: ICD10:D73.9 {source="DOID:2529"}
xref: ICD9:289.50 {source="DOID:2529"}
xref: MESH:D013158 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2529"}
xref: NCIT:C35823 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: SCTID:51244008 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: UMLS:C0037997 {source="MONDO:equivalentTo", source="DOID:2529"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005570 ! hematologic disease
is_a: MONDO:0005833 {source="DOID:2529", source="EFO:0009002", source="MESH:D013158"} ! lymphatic system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/154839008
property_value: closeMatch http://identifiers.org/snomedct/191381002
property_value: closeMatch http://identifiers.org/snomedct/191385006
property_value: closeMatch http://identifiers.org/snomedct/267570002
property_value: exactMatch DOID:2529
property_value: exactMatch http://identifiers.org/mesh/D013158
property_value: exactMatch http://identifiers.org/snomedct/51244008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037997
property_value: exactMatch NCIT:C35823

[Term]
id: MONDO:0002333
name: splenic abscess (disease)
def: "An abscess that is located in the spleen." [NCIT:P378]
synonym: "splenic abscess" EXACT [MONDO:ambiguous]
xref: DOID:2530 {source="MONDO:equivalentTo"}
xref: HP:0025059 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D73.3 {source="DOID:2530", source="MONDO:equivalentTo"}
xref: ICD9:289.59 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35347 {source="DOID:2530", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:82053000 {source="DOID:2530", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272412 {source="DOID:2530", source="MONDO:equivalentTo", source="NCIT:C35347"}
is_a: MONDO:0002332 {source="DOID:2530", source="ICD10:D73.3", source="MONDO:Redundant", source="NCIT:C35347/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! splenic disease
is_a: MONDO:0005227 {source="MONDO:Redundant", source="NCIT:C35347", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:2530
property_value: exactMatch http://identifiers.org/snomedct/82053000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272412
property_value: exactMatch NCIT:C35347

[Term]
id: MONDO:0002334
name: hematopoietic and lymphoid system neoplasm
def: "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" [NCIT:C35813]
synonym: "blood cancer" NARROW [CSP2005:2004-0139, DOID:2531]
synonym: "blood neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "blood tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hematologic cancer" RELATED [DOID:2531]
synonym: "hematologic malignancy" NARROW [DOID:2531]
synonym: "hematologic neoplasm" EXACT [DOID:2531]
synonym: "hematological tumors" EXACT [DOID:2531, NCIT:C27134]
synonym: "hematopoietic and lymphoid system neoplasm" EXACT [NCIT:C35813]
synonym: "hematopoietic and lymphoid system tumor" EXACT [DOID:2531, NCIT:C35813]
synonym: "hematopoietic cancer" NARROW [DOID:2531]
synonym: "hematopoietic neoplasm" EXACT [DOID:2531]
synonym: "hematopoietic neoplasm (morphologic abnormality)" EXACT [DOID:2531]
synonym: "hematopoietic system neoplasm" EXACT []
synonym: "hematopoietic system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hematopoietic tumors" EXACT [DOID:2531, NCIT:C27134]
synonym: "malignant hematopoietic neoplasm" EXACT EXCLUDE [DOID:2531]
synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [DOID:2531]
synonym: "neoplasm of blood" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of hematopoietic system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of blood" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of hematopoietic system" EXACT [MONDO:patterns/neoplasm]
xref: DOID:2531 {source="MONDO:equivalentTo"}
xref: MESH:D019337 {source="DOID:2531", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35813 {source="kboom:pr0.76-conf3.83", source="MONDO:equivalentTo"}
xref: SCTID:129154003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.82"}
xref: UMLS:C0376544 {source="MEDGEN:kboom-pr98-c99", source="DOID:2531", source="MONDO:equivalentTo"}
xref: UMLS:C0376545 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1512393 {source="MONDO:equivalentTo", source="NCIT:C35813"}
is_a: MONDO:0005070 {source="DOID:2531/inferred", source="MESH:D019337/inferred", source="MONDO:Redundant", source="MONDOLEX:0002334", source="NCIT:C35813/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
is_a: MONDO:0005570 {source="MESH:D019337", source="MONDO:Redundant", source="OWLReasoner:2017"} ! hematologic disease
property_value: closeMatch http://identifiers.org/snomedct/414388001
property_value: closeMatch http://identifiers.org/snomedct/414644002
property_value: exactMatch DOID:2531
property_value: exactMatch http://identifiers.org/mesh/D019337
property_value: exactMatch http://identifiers.org/snomedct/129154003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512393
property_value: exactMatch NCIT:C35813

[Term]
id: MONDO:0002335
name: chronic inflammatory demyelinating polyneuritis
def: "An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms." [NCIT:C84636]
comment: Editor note: todo add polyneuritis
synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [NCIT:C84636]
xref: DOID:2536 {source="MONDO:equivalentTo"}
xref: ICD10:G61.81 {source="MONDO:equivalentTo", source="DOID:2536"}
xref: ICD9:357.81 {source="MONDO:equivalentTo", source="DOID:2536", source="i2s"}
xref: NCIT:C84636 {source="MONDO:equivalentTo", source="DOID:2536"}
xref: SCTID:444728005 {source="MONDO:equivalentTo", source="DOID:2536"}
is_a: MONDO:0003334 {source="MONDO:Redundant", source="MONDOLEX:0002335", source="NCIT:C84636", source="linkedlifedata"} ! demyelinating polyneuropathy
is_a: MONDO:0003335 ! chronic polyneuropathy
is_a: MONDO:0021166 ! inflammatory disease
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:2536"} ! inflammatory and toxic neuropathy
property_value: exactMatch DOID:2536
property_value: exactMatch http://identifiers.org/snomedct/444728005
property_value: exactMatch NCIT:C84636

[Term]
id: MONDO:0002336
name: inflammatory and toxic neuropathy
comment: Editor note: consider obsoleting
xref: COHD:378140 {source="MONDO:equivalentTo"}
xref: DOID:2537 {source="MONDO:equivalentTo"}
xref: ICD9:357 {source="DOID:2537"}
xref: ICD9:357.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:357.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:357.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:2537"}
xref: SCTID:267601009 {source="MONDO:equivalentTo", source="DOID:2537", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005244 {source="DOID:2537", source="MONDOLEX:0002336", source="linkedlifedata"} ! peripheral neuropathy
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155060008
property_value: closeMatch http://identifiers.org/snomedct/193172009
property_value: closeMatch http://identifiers.org/snomedct/193204000
property_value: closeMatch http://identifiers.org/snomedct/267603007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154758
property_value: exactMatch DOID:2537
property_value: exactMatch http://identifiers.org/snomedct/267601009

[Term]
id: MONDO:0002337
name: intra-abdominal hemangioma
def: "A hemangioma arising from organs within the abdominal cavity." [NCIT:C3635]
synonym: "abdominal cavity hemangioma" EXACT [MONDO:patterns/location]
synonym: "hemangioma of abdominal cavity" EXACT [MONDO:design_pattern]
synonym: "hemangioma of intra-abdominal structure" EXACT [NCIT:C3635]
synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD9CM_2006:228.04]
synonym: "hemangioma, intra-abdominal" EXACT [DOID:254, NCIT:C3635]
synonym: "intra-abdominal hemangioma" EXACT [NCIT:C3635]
xref: COHD:197239 {source="MONDO:equivalentTo"}
xref: DOID:254 {source="MONDO:equivalentTo"}
xref: ICD10:D18.03 {source="MONDO:equivalentTo", source="DOID:254"}
xref: ICD9:228.04 {source="MONDO:equivalentTo", source="i2s", source="DOID:254"}
xref: NCIT:C3635 {source="MONDO:equivalentTo", source="DOID:254"}
xref: SCTID:189197001 {source="MONDO:equivalentTo", source="DOID:254", source="MONDO:kboom-pr-1.00/0.92/8.02"}
xref: UMLS:C0154052 {source="MONDO:equivalentTo", source="NCIT:C3635", source="DOID:254"}
is_a: MONDO:0006500 {source="DOID:254", source="MONDO:Redundant", source="NCIT:C3635", source="linkedlifedata"} ! hemangioma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/93467008
property_value: exactMatch DOID:254
property_value: exactMatch http://identifiers.org/snomedct/189197001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154052
property_value: exactMatch NCIT:C3635

[Term]
id: MONDO:0002338
name: extratemporal epilepsy
def: "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe." [DOID:2544, http://www.webmd.com/epilepsy/extratemporal-cortical-resection]
synonym: "extratemporal epilepsy" EXACT [DOID:2544, NCIT:C7760]
xref: DOID:2544 {source="MONDO:equivalentTo"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7760 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2544"}
xref: SCTID:111498005 {source="MONDO:equivalentTo", source="DOID:2544", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270849 {source="NCIT:C7760", source="MONDO:equivalentTo", source="DOID:2544"}
is_a: MONDO:0005027 {source="DOID:2544", source="NCIT:C7760", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy
property_value: exactMatch DOID:2544
property_value: exactMatch http://identifiers.org/snomedct/111498005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270849
property_value: exactMatch NCIT:C7760

[Term]
id: MONDO:0002339
name: obsolete hemangioma
is_obsolete: true
replaced_by: MONDO:0006500

[Term]
id: MONDO:0002340
name: tactile epilepsy
xref: DOID:2550 {source="MONDO:equivalentTo"}
xref: NCIT:C4687 {source="DOID:2550", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:230449001 {source="DOID:2550", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0393724 {source="DOID:2550", source="MONDO:equivalentTo", source="NCIT:C4687"}
is_a: MONDO:0017768 {source="DOID:2550", source="NCIT:C4687", source="linkedlifedata"} ! reflex epilepsy
property_value: exactMatch DOID:2550
property_value: exactMatch http://identifiers.org/snomedct/230449001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393724
property_value: exactMatch NCIT:C4687

[Term]
id: MONDO:0002341
name: granulomatous angiitis
def: "Inflammation of the arteries that is characterized by the presence of granulomas." [NCIT:P378]
synonym: "Granulomatous arteritis" EXACT [NCIT:C34653]
xref: DOID:2555 {source="MONDO:equivalentTo"}
xref: NCIT:C34653 {source="MONDO:equivalentTo", source="DOID:2555"}
xref: UMLS:C0018202 {source="MONDO:equivalentTo", source="DOID:2555"}
is_a: MONDO:0043494 {source="NCIT:C34653"} ! arteritis
property_value: exactMatch DOID:2555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018202
property_value: exactMatch NCIT:C34653

[Term]
id: MONDO:0002342
name: chondromalacia
def: "Pathological processes involving the chondral tissue (cartilage)." [MESH:D002357]
xref: COHD:438531 {source="MONDO:equivalentTo"}
xref: DOID:2557 {source="MONDO:equivalentTo"}
xref: ICD10:M94.2 {source="MONDO:equivalentTo", source="DOID:2557"}
xref: ICD10:M94.20 {source="DOID:2557"}
xref: ICD9:733.92 {source="MONDO:equivalentTo", source="i2s", source="DOID:2557"}
xref: SCTID:63198006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2557"}
xref: UMLS:C0085700 {source="MONDO:equivalentTo", source="DOID:2557"}
is_a: MONDO:0003816 {source="DOID:2557", source="linkedlifedata"} ! articular cartilage disease
property_value: closeMatch http://identifiers.org/snomedct/203512007
property_value: exactMatch DOID:2557
property_value: exactMatch http://identifiers.org/snomedct/63198006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085700

[Term]
id: MONDO:0002343
name: splenic hemangioma
def: "A hemangioma arising from the spleen." [NCIT:C8541]
synonym: "angioma of spleen" EXACT [NCIT:C8541]
synonym: "angioma of the spleen" EXACT [NCIT:C8541]
synonym: "hemangioma of spleen" EXACT [NCIT:C8541]
synonym: "hemangioma of the spleen" EXACT [NCIT:C8541]
synonym: "spleen angioma" EXACT [NCIT:C8541]
synonym: "spleen hemangioma" EXACT [MONDO:patterns/location, NCIT:C8541]
synonym: "splenic angioma" EXACT [NCIT:C8541]
synonym: "splenic hemangioma" EXACT [DOID:256, NCIT:C8541]
xref: DOID:256 {source="MONDO:equivalentTo"}
xref: NCIT:C8541 {source="MONDO:equivalentTo", source="DOID:256"}
xref: SCTID:93472004 {source="MONDO:equivalentTo", source="DOID:256", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0685201 {source="NCIT:C8541", source="MONDO:equivalentTo", source="DOID:256"}
is_a: MONDO:0002337 {source="DOID:256", source="NCIT:C8541", source="linkedlifedata"} ! intra-abdominal hemangioma
is_a: MONDO:0021500 {source="MONDO:Redundant", source="NCIT:C8541", source="linkedlifedata"} ! benign neoplasm of spleen
property_value: exactMatch DOID:256
property_value: exactMatch http://identifiers.org/snomedct/93472004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685201
property_value: exactMatch NCIT:C8541

[Term]
id: MONDO:0002344
name: obsolete corneal dystrophy
is_obsolete: true
replaced_by: MONDO:0018102

[Term]
id: MONDO:0002345
name: cervicitis (disease)
def: "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." [NCIT:P378]
synonym: "cervicitis" EXACT [MONDO:ambiguous]
xref: DOID:2568 {source="MONDO:equivalentTo"}
xref: HP:0030160 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N72 {source="DOID:2568"}
xref: ICD9:616.0 {source="DOID:2568"}
xref: MESH:D002575 {source="MONDO:equivalentTo", source="DOID:2568", source="MONDO:ontobio"}
xref: NCIT:C26716 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:2568"}
xref: SCTID:37610005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.25", source="DOID:2568"}
is_a: MONDO:0002256 {source="DOID:2568", source="MESH:D002575", source="NCIT:C26716/inferred", source="linkedlifedata"} ! cervix disease
property_value: closeMatch http://identifiers.org/snomedct/155980007
property_value: closeMatch http://identifiers.org/snomedct/198199009
property_value: closeMatch http://identifiers.org/snomedct/198200007
property_value: closeMatch http://identifiers.org/snomedct/198211004
property_value: closeMatch http://identifiers.org/snomedct/237081003
property_value: closeMatch http://identifiers.org/snomedct/266585004
property_value: closeMatch http://identifiers.org/snomedct/266654000
property_value: closeMatch http://identifiers.org/snomedct/80059007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007860
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007861
property_value: exactMatch DOID:2568
property_value: exactMatch http://identifiers.org/mesh/D002575
property_value: exactMatch http://identifiers.org/snomedct/37610005
property_value: exactMatch NCIT:C26716

[Term]
id: MONDO:0002346
name: obsolete malignant histiocytic disease
is_obsolete: true
replaced_by: MONDO:0004612

[Term]
id: MONDO:0002347
name: barbiturate dependence
def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." [DOID:2575, http://en.wikipedia.org/wiki/Barbiturate_dependence]
xref: DOID:2575 {source="MONDO:equivalentTo"}
xref: ICD9:304.11 {source="DOID:2575"}
xref: ICD9:304.13 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:231472009 {source="DOID:2575", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005303 {source="DOID:2575", source="linkedlifedata", source="linkedlifedata/inferred"} ! drug dependence
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154482
property_value: exactMatch DOID:2575
property_value: exactMatch http://identifiers.org/snomedct/231472009

[Term]
id: MONDO:0002348
name: obsolete chondrodysplasia punctata
is_obsolete: true
replaced_by: MONDO:0019701

[Term]
id: MONDO:0002349
name: obsolete agammaglobulinemia
is_obsolete: true
replaced_by: MONDO:0015977

[Term]
id: MONDO:0002350
name: familial nephrotic syndrome
def: "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital nephrotic syndrome" EXACT [DOID:2590, NCIT:C35337]
synonym: "hereditary nephrotic syndrome" EXACT [MONDO:patterns/hereditary]
xref: DOID:2590 {source="MONDO:equivalentTo"}
xref: ICD10:N04 {source="DOID:2590"}
xref: NCIT:C35337 {source="MONDO:equivalentTo", source="DOID:2590", source="MONDO:kboom-pr-0.89/0.77/0.22"}
xref: OMIMPS:256300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:48796009 {source="MONDO:equivalentTo", source="DOID:2590"}
xref: UMLS:C3501848 {source="MONDO:equivalentTo", source="NCIT:C35337", source="DOID:2590"}
xref: UMLS:CN043611 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005377 {source="DOID:2590", source="MONDO:Redundant", source="MONDOLEX:0002350", source="NCIT:C35337", source="linkedlifedata"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/197602005
property_value: exactMatch DOID:2590
property_value: exactMatch http://identifiers.org/snomedct/48796009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043611
property_value: exactMatch NCIT:C35337

[Term]
id: MONDO:0002351
name: glottis cancer
def: "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." [NCIT:C3544]
synonym: "Ca larynx - glottis" EXACT [DOID:2595]
synonym: "cancer of glottis" EXACT [MONDO:patterns/cancer]
synonym: "glottis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3544]
synonym: "malignant glottis tumor" EXACT [NCIT:C3544]
synonym: "malignant neoplasm of glottis" EXACT [MONDO:patterns/cancer, NCIT:C3544]
synonym: "malignant neoplasm of the glottis" EXACT [NCIT:C3544]
synonym: "malignant tumor of glottis" EXACT [NCIT:C3544]
synonym: "malignant tumor of the glottis" EXACT [DOID:2595, NCIT:C3544]
xref: COHD:4092211 {source="MONDO:equivalentTo"}
xref: DOID:2595 {source="MONDO:equivalentTo"}
xref: ICD10:C32.0 {source="DOID:2595"}
xref: ICD9:161.0 {source="DOID:2595", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3544 {source="DOID:2595", source="MONDO:equivalentTo"}
xref: SCTID:187841006 {source="DOID:2595", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153483 {source="DOID:2595", source="MONDO:equivalentTo", source="NCIT:C3544"}
is_a: MONDO:0002352 {source="DOID:2595", source="MONDO:Redundant", source="NCIT:C3544", source="linkedlifedata"} ! larynx cancer
is_a: MONDO:0002353 {source="MONDO:Redundant", source="NCIT:C3544", source="OWLReasoner:2017", source="linkedlifedata"} ! glottis neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154481005
property_value: closeMatch http://identifiers.org/snomedct/269557000
property_value: exactMatch DOID:2595
property_value: exactMatch http://identifiers.org/snomedct/187841006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153483
property_value: exactMatch NCIT:C3544

[Term]
id: MONDO:0002352
name: larynx cancer
def: "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." [NCIT:C7484]
synonym: "cancer of larynx" EXACT [MONDO:patterns/cancer]
synonym: "larynx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant laryngeal neoplasm" EXACT [NCIT:C7484]
synonym: "malignant laryngeal tumor" EXACT [NCIT:C7484]
synonym: "malignant larynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7484]
synonym: "malignant larynx tumor" EXACT [NCIT:C7484]
synonym: "malignant neoplasm of larynx" EXACT [MONDO:patterns/cancer, NCIT:C7484]
synonym: "malignant neoplasm of the larynx" EXACT [NCIT:C7484]
synonym: "malignant tumor of larynx" EXACT [NCIT:C7484]
synonym: "malignant tumor of the larynx" EXACT [NCIT:C7484]
xref: DOID:2596 {source="MONDO:equivalentTo"}
xref: EFO:1000354 {source="MONDO:equivalentTo"}
xref: ICD10:C32 {source="DOID:2596"}
xref: ICD10:C32.9 {source="DOID:2596"}
xref: ICD9:161 {source="DOID:2596"}
xref: ICD9:161.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:161.9 {source="DOID:2596", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7484 {source="DOID:2596", source="MONDO:equivalentTo"}
xref: SCTID:363429002 {source="DOID:2596", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:C0007107 {source="NCIT:C7484", source="DOID:2596", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 {source="DOID:2596", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer
is_a: MONDO:0021071 {source="EFO:1000354", source="MONDO:Redundant", source="MONDOLEX:0002352", source="NCIT:C7484", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154484002
property_value: closeMatch http://identifiers.org/snomedct/187851007
property_value: closeMatch http://identifiers.org/snomedct/269560007
property_value: closeMatch http://identifiers.org/snomedct/93859007
property_value: exactMatch DOID:2596
property_value: exactMatch http://identifiers.org/snomedct/363429002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007107
property_value: exactMatch NCIT:C7484

[Term]
id: MONDO:0002353
name: glottis neoplasm
def: "A benign or malignant neoplasm that affects the glottic area of the larynx." [NCIT:C4425]
synonym: "glottis neoplasm" EXACT [NCIT:C4425]
synonym: "glottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "glottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "neoplasm of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "neoplasm of the glottis" EXACT [NCIT:C4425]
synonym: "tumor of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "tumor of the glottis" EXACT [DOID:2597, NCIT:C4425]
xref: DOID:2597 {source="MONDO:equivalentTo"}
xref: NCIT:C4425 {source="DOID:2597", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126693009 {source="DOID:2597", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345713 {source="DOID:2597", source="MONDO:equivalentTo", source="NCIT:C4425"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C4425", source="linkedlifedata"} ! laryngeal neoplasm
property_value: exactMatch DOID:2597
property_value: exactMatch http://identifiers.org/snomedct/126693009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345713
property_value: exactMatch NCIT:C4425

[Term]
id: MONDO:0002354
name: benign laryngeal neoplasm
def: "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." [NCIT:C3601]
synonym: "benign laryngeal neoplasm" EXACT [NCIT:C3601]
synonym: "benign laryngeal tumor" EXACT [NCIT:C3601]
synonym: "benign larynx neoplasm" EXACT [NCIT:C3601]
synonym: "benign larynx tumor" EXACT [NCIT:C3601]
synonym: "benign neoplasm of larynx" EXACT [NCIT:C3601]
synonym: "benign neoplasm of the larynx" EXACT [NCIT:C3601]
synonym: "benign tumor of larynx" EXACT [NCIT:C3601]
synonym: "benign tumor of the larynx" EXACT [NCIT:C3601]
synonym: "laryngeal benign neoplasm" RELATED [DOID:2598]
synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601]
synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156]
synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "larynx neoplasm" BROAD [CSP2005:2017-5694, DOID:2598]
synonym: "neoplasm of larynx" EXACT EXCLUDE [DOID:2598]
xref: COHD:23731 {source="MONDO:equivalentTo"}
xref: DOID:2598 {source="MONDO:equivalentTo"}
xref: ICD9:212.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3601 {source="MONDO:equivalentTo"}
xref: SCTID:92175003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"}
xref: UMLS:C0153952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3601"}
is_a: MONDO:0000382 {source="DOID:2598", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0021071 {source="MONDO:Redundant", source="MONDOLEX:0002354", source="NCIT:C3601", source="linkedlifedata"} ! laryngeal neoplasm
property_value: exactMatch DOID:2598
property_value: exactMatch http://identifiers.org/snomedct/92175003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153952
property_value: exactMatch NCIT:C3601

[Term]
id: MONDO:0002355
name: glottis carcinoma
def: "A carcinoma that arises from epithelial cells of the glottis." [MONDO:DesignPattern]
synonym: "cancer of glottis" EXACT [NCIT:C4923]
synonym: "cancer of the glottis" EXACT [NCIT:C4923]
synonym: "carcinoma of glottis" EXACT [MONDO:patterns/carcinoma, NCIT:C4923]
synonym: "carcinoma of the glottis" EXACT [NCIT:C4923]
synonym: "glottic carcinoma" EXACT [DOID:2599, NCIT:C4923]
synonym: "glottic throat cancer" EXACT [NCIT:C4923]
synonym: "glottis cancer" EXACT [NCIT:C4923]
synonym: "glottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C4923]
xref: DOID:2599 {source="MONDO:equivalentTo"}
xref: NCIT:C4923 {source="MONDO:equivalentTo", source="DOID:2599"}
xref: SCTID:372103002 {source="MONDO:equivalentTo", source="DOID:2599", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0740083 {source="MONDO:equivalentTo", source="DOID:2599", source="NCIT:C4923"}
is_a: MONDO:0002351 {source="DOID:2599", source="MONDO:Redundant", source="MONDOLEX:0002355", source="NCIT:C4923", source="linkedlifedata", source="linkedlifedata/inferred"} ! glottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C4923", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal carcinoma
property_value: exactMatch DOID:2599
property_value: exactMatch http://identifiers.org/snomedct/372103002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740083
property_value: exactMatch NCIT:C4923

[Term]
id: MONDO:0002356
name: pancreas disease
def: "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." [NCIT:C26842]
synonym: "disease of pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pancreas" EXACT []
synonym: "disease, pancreatic" RELATED [MESH:D010182]
synonym: "diseases, pancreatic" RELATED [MESH:D010182]
synonym: "disorder of pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pancreas" RELATED [MONDO:patterns/location_top]
synonym: "pancreas disease" EXACT [MONDO:patterns/location]
synonym: "pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pancreatic disease" RELATED [MESH:D010182]
synonym: "pancreatic disorder" EXACT [NCIT:C26842]
xref: DOID:26 {source="MONDO:equivalentTo"}
xref: ICD10:K86.8 {source="DOID:26"}
xref: ICD9:577.8 {source="DOID:26", source="linkedlifedata"}
xref: ICD9:577.9 {source="linkedlifedata"}
xref: MESH:D010182 {source="MONDO:equivalentTo"}
xref: NCIT:C26842 {source="MONDO:equivalentTo"}
xref: SCTID:3855007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 {source="NCIT:C26842", source="linkedlifedata/inferred"} ! digestive system disease
is_a: MONDO:0005151 {source="DOID:26"} ! endocrine system disease
property_value: closeMatch http://identifiers.org/snomedct/197566002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029771
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030286
property_value: exactMatch DOID:26
property_value: exactMatch http://identifiers.org/mesh/D010182
property_value: exactMatch http://identifiers.org/snomedct/3855007
property_value: exactMatch NCIT:C26842

[Term]
id: MONDO:0002357
name: hepatic flexure cancer
def: "A malignant neoplasm involving the hepatic flexure of colon." [MONDO:DesignPattern]
synonym: "Ca hepatic flexure - colon" EXACT [DOID:260]
synonym: "cancer of hepatic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "hepatic flexure of colon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hepatic flexure of colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hepatic flexure" EXACT [DOID:260, ICD9CM_2006:153.0]
synonym: "malignant neoplasm of hepatic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of hepatic flexure" EXACT [DOID:260]
xref: DOID:260 {source="MONDO:equivalentTo"}
xref: ICD10:C18.3 {source="DOID:260"}
xref: ICD9:153.0 {source="DOID:260", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363407001 {source="DOID:260", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153433 {source="DOID:260", source="MONDO:equivalentTo"}
is_a: MONDO:0002238 {source="DOID:260", source="linkedlifedata"} ! ascending colon cancer
property_value: closeMatch http://identifiers.org/snomedct/154455006
property_value: closeMatch http://identifiers.org/snomedct/269534006
property_value: closeMatch http://identifiers.org/snomedct/93826009
property_value: exactMatch DOID:260
property_value: exactMatch http://identifiers.org/snomedct/363407001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153433

[Term]
id: MONDO:0002358
name: laryngeal carcinoma
def: "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." [NCIT:C4855]
synonym: "cancer of larynx" BROAD [DOID:2600, NCIT:C4855]
synonym: "cancer of larynx" EXACT [NCIT:C4855]
synonym: "cancer of the larynx" BROAD [NCIT:C4855]
synonym: "cancer of the larynx" EXACT [NCIT:C4855]
synonym: "carcinoma of larynx" EXACT [MONDO:patterns/carcinoma, NCIT:C4855]
synonym: "carcinoma of the larynx" EXACT [NCIT:C4855]
synonym: "laryngeal cancer" BROAD [NCIT:C4855]
synonym: "laryngeal cancer" EXACT [NCIT:C4855]
synonym: "laryngeal carcinoma" EXACT [NCIT:C4855]
synonym: "laryngeal throat cancer" BROAD [NCIT:C4855]
synonym: "laryngeal throat cancer" EXACT [NCIT:C4855]
synonym: "larynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C4855]
xref: DOID:2600 {source="MONDO:equivalentTo"}
xref: GARD:0006862 {source="MONDO:equivalentTo"}
xref: NCIT:C4855 {source="DOID:2600", source="MONDO:equivalentTo"}
xref: SCTID:276975007 {source="DOID:2600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"}
xref: UMLS:C0595989 {source="DOID:2600", source="MONDO:equivalentTo", source="NCIT:C4855"}
is_a: MONDO:0002352 {source="DOID:2600", source="MONDO:Redundant", source="MONDOLEX:0002358", source="NCIT:C4855", source="linkedlifedata", source="linkedlifedata/inferred"} ! larynx cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0002358", source="NCIT:C4855/inferred", source="linkedlifedata"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154480006
property_value: closeMatch http://identifiers.org/snomedct/93859007
property_value: exactMatch DOID:2600
property_value: exactMatch http://identifiers.org/snomedct/276975007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0595989
property_value: exactMatch NCIT:C4855

[Term]
id: MONDO:0002359
name: periosteal chondroma
def: "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." [NCIT:C4302]
synonym: "juxtacortical chondroma" EXACT [NCIT:C4302]
synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [DOID:2601]
synonym: "periosteal chondroma" EXACT [DOID:2601, NCIT:C4302]
xref: DOID:2601 {source="MONDO:equivalentTo"}
xref: ICDO:9221/0 {source="NCIT:C4302"}
xref: NCIT:C4302 {source="MONDO:equivalentTo", source="DOID:2601"}
xref: UMLS:C0334548 {source="MONDO:equivalentTo", source="DOID:2601"}
is_a: MONDO:0000631 {source="NCIT:C4302"} ! bone benign neoplasm
is_a: MONDO:0002360 {source="DOID:2601", source="MONDO:Redundant", source="NCIT:C4302"} ! chondroma
property_value: closeMatch http://identifiers.org/snomedct/9266000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4076530
property_value: exactMatch DOID:2601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334548
property_value: exactMatch NCIT:C4302

[Term]
id: MONDO:0002360
name: chondroma
def: "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." [NCIT:C53459]
subset: gard_rare {source="GARD:0006052"}
synonym: "central chondroma" EXACT [DOID:2602, NCIT:C3007]
synonym: "chondroma" EXACT [NCIT:C53459]
synonym: "chondroma, benign" EXACT [NCIT:C53459]
xref: DOID:2602 {source="MONDO:equivalentTo"}
xref: GARD:0006052 {source="MONDO:equivalentTo"}
xref: ICDO:9220/0 {source="NCIT:C53459"}
xref: MESH:D002812 {source="MONDO:equivalentTo", source="DOID:2602", source="MONDO:ontobio"}
xref: NCIT:C53459 {source="MONDO:equivalentTo", source="DOID:2602"}
xref: UMLS:C0936248 {source="NCIT:C53459", source="MONDO:equivalentTo", source="DOID:2602"}
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0005569 ! cartilage disease
is_a: MONDO:0021581 ! connective tissue neoplasm
is_a: MONDO:0024470 {source="NCIT:C53459"} ! benign chondrogenic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154611005
property_value: closeMatch http://identifiers.org/snomedct/187899007
property_value: closeMatch http://identifiers.org/snomedct/188980001
property_value: closeMatch http://identifiers.org/snomedct/189885004
property_value: closeMatch http://identifiers.org/snomedct/269638002
property_value: closeMatch http://identifiers.org/snomedct/31186001
property_value: exactMatch DOID:2602
property_value: exactMatch http://identifiers.org/mesh/D002812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936248
property_value: exactMatch NCIT:C53459
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6052/chondroma xsd:anyURI {source="GARD:0006052"}

[Term]
id: MONDO:0002361
name: transverse colon cancer
def: "A malignant neoplasm involving the transverse colon." [MONDO:DesignPattern]
synonym: "Ca transverse colon" EXACT [DOID:261]
synonym: "cancer of transverse colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of transverse colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant transverse colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of transverse colon" EXACT [DOID:261]
synonym: "transverse colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:261 {source="MONDO:equivalentTo"}
xref: ICD10:C18.4 {source="DOID:261"}
xref: ICD9:153.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:261"}
xref: SCTID:363408006 {source="MONDO:equivalentTo", source="DOID:261", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153434 {source="MONDO:equivalentTo", source="DOID:261"}
is_a: MONDO:0021063 {source="DOID:261", source="MONDO:Redundant", source="MONDOLEX:0002361", source="linkedlifedata"} ! malignant colon neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154456007
property_value: closeMatch http://identifiers.org/snomedct/269535007
property_value: closeMatch http://identifiers.org/snomedct/94105000
property_value: exactMatch DOID:261
property_value: exactMatch http://identifiers.org/snomedct/363408006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153434

[Term]
id: MONDO:0002362
name: serous surface papilloma
def: "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." [NCIT:C4181]
synonym: "serous surface papilloma" EXACT [DOID:2614, NCIT:C4181]
synonym: "serous surface papilloma (morphologic abnormality)" EXACT [DOID:2614]
synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [DOID:2614]
xref: DOID:2614 {source="MONDO:equivalentTo"}
xref: ICDO:8461/0 {source="NCIT:C4181"}
xref: NCIT:C4181 {source="MONDO:equivalentTo", source="DOID:2614", source="exact-label-match"}
xref: UMLS:C0334360 {source="MONDO:equivalentTo", source="DOID:2614", source="NCIT:C4181"}
is_a: MONDO:0002363 {source="DOID:2614", source="NCIT:C4181"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/189689007
property_value: closeMatch http://identifiers.org/snomedct/67073007
property_value: exactMatch DOID:2614
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334360
property_value: exactMatch NCIT:C4181

[Term]
id: MONDO:0002363
name: papilloma
def: "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C7440]
synonym: "papilloma" EXACT [NCIT:C7440]
synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [DOID:2615]
synonym: "papilloma, benign" EXACT [NCIT:C7440]
synonym: "papillomatosis" EXACT EXCLUDE [DOID:2615]
synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [DOID:2615]
synonym: "papillomatosis, NOS" RELATED EXCLUDE [DOID:2615]
xref: DOID:2615 {source="MONDO:equivalentTo"}
xref: ICDO:8050/0 {source="NCIT:C7440"}
xref: MESH:D010212 {source="MONDO:equivalentTo", source="DOID:2615"}
xref: NCIT:C7440 {source="MONDO:equivalentTo", source="DOID:2615"}
xref: SCTID:711329002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2615"}
xref: UMLS:C0030354 {source="NCIT:C7440", source="MONDO:equivalentTo", source="DOID:2615"}
is_a: MONDO:0021096 {source="NCIT:C7440"} ! papillary epithelial neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189564006
property_value: closeMatch http://identifiers.org/snomedct/23730008
property_value: closeMatch http://identifiers.org/snomedct/82049002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205875
property_value: exactMatch DOID:2615
property_value: exactMatch http://identifiers.org/mesh/D010212
property_value: exactMatch http://identifiers.org/snomedct/711329002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030354
property_value: exactMatch NCIT:C7440

[Term]
id: MONDO:0002364
name: obsolete Wolffian duct adenoma
is_obsolete: true
replaced_by: MONDO:0024889

[Term]
id: MONDO:0002365
name: kidney hemangiopericytoma
def: "A hemangiopericytoma arising from the kidney." [NCIT:P378]
synonym: "hemangiopericytoma of kidney" EXACT [NCIT:C4527]
synonym: "hemangiopericytoma of the kidney" EXACT [NCIT:C4527]
synonym: "kidney hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "kidney spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "renal hemangiopericytoma" EXACT [DOID:262, NCIT:C4527]
xref: DOID:262 {source="MONDO:equivalentTo"}
xref: NCIT:C4527 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:262"}
xref: SCTID:254923001 {source="MONDO:equivalentTo", source="DOID:262", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346256 {source="MONDO:equivalentTo", source="DOID:262", source="NCIT:C4527"}
is_a: MONDO:0005094 {source="DOID:262", source="MONDO:Redundant", source="NCIT:C4527"} ! hemangiopericytoma
is_a: MONDO:0021163 ! kidney neoplasm
property_value: exactMatch DOID:262
property_value: exactMatch http://identifiers.org/snomedct/254923001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346256
property_value: exactMatch NCIT:C4527

[Term]
id: MONDO:0002366
name: autonomic nervous system neoplasm
def: "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." [NCIT:C5112]
synonym: "autonomic nervous system neoplasm" EXACT [NCIT:C5112]
synonym: "autonomic nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "autonomic nervous system neoplasms" EXACT [NCIT:C5112]
synonym: "autonomic nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "neoplasm of autonomic nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "neoplasm of the autonomic nervous system" EXACT [NCIT:C5112]
synonym: "tumor of autonomic nervous system" EXACT [DOID:2621, MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "tumor of the autonomic nervous system" EXACT [NCIT:C5112]
xref: DOID:2621 {source="MONDO:equivalentTo"}
xref: NCIT:C5112 {source="MONDO:equivalentTo", source="DOID:2621", source="exact-label-match"}
xref: UMLS:C1332356 {source="NCIT:C5112", source="MONDO:equivalentTo", source="DOID:2621"}
is_a: MONDO:0001292 ! autonomic nervous system disease
is_a: MONDO:0001406 {source="DOID:2621", source="MONDO:Redundant", source="NCIT:C5112"} ! peripheral nervous system neoplasm
property_value: exactMatch DOID:2621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332356
property_value: exactMatch NCIT:C5112

[Term]
id: MONDO:0002367
name: kidney cancer
def: "Primary or metastatic malignant neoplasm involving the kidney." [NCIT:C7548]
synonym: "cancer of kidney" EXACT [MONDO:patterns/cancer]
synonym: "kidney cancer" EXACT [MONDO:patterns/location]
synonym: "malignant kidney neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7548]
synonym: "malignant kidney tumor" EXACT [NCIT:C7548]
synonym: "malignant neoplasm of kidney" EXACT [MONDO:patterns/cancer, NCIT:C7548]
synonym: "malignant neoplasm of kidney except pelvis" EXACT [DOID:263]
synonym: "malignant neoplasm of the kidney" EXACT [NCIT:C7548]
synonym: "malignant renal neoplasm" EXACT [NCIT:C7548]
synonym: "malignant renal tumor" EXACT [NCIT:C7548]
synonym: "malignant tumor of kidney" EXACT [NCIT:C7548]
synonym: "malignant tumor of the kidney" EXACT [NCIT:C7548]
synonym: "malignant tumour of kidney" EXACT [DOID:263]
synonym: "renal cancer" EXACT EXCLUDE [DOID:263]
xref: DOID:263 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="DOID:263"}
xref: ICD9:189.0 {source="DOID:263"}
xref: MESH:D007680 {source="MONDO:equivalentTo", source="DOID:263", source="MONDO:ontobio"}
xref: NCIT:C7548 {source="MONDO:equivalentTo", source="DOID:263"}
xref: SCTID:363518003 {source="MONDO:equivalentTo", source="DOID:263"}
xref: UMLS:CN881103 {source="MONDO:equivalentTo"}
is_a: MONDO:0006295 {source="DOID:263", source="MONDO:Redundant", source="NCIT:C7548"} ! malignant urinary system neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C7548"} ! kidney neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154542008
property_value: closeMatch http://identifiers.org/snomedct/188249002
property_value: closeMatch http://identifiers.org/snomedct/93849006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022665
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0494158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740457
property_value: closeMatch NCIT:C120456
property_value: exactMatch DOID:263
property_value: exactMatch http://identifiers.org/mesh/D007680
property_value: exactMatch http://identifiers.org/snomedct/363518003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN881103
property_value: exactMatch NCIT:C7548

[Term]
id: MONDO:0002368
name: papillary serous cystadenocarcinoma
def: "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C8377]
synonym: "micropapillary serous carcinoma" EXACT [DOID:2632, NCIT:C6882]
synonym: "papillary serous adenocarcinoma" EXACT [NCIT:C8377]
synonym: "papillary serous carcinoma" EXACT [DOID:2632, NCIT:C8377]
synonym: "papillary serous cystadenocarcinoma" EXACT [NCIT:C8377]
synonym: "serous surface papillary carcinoma" EXACT EXCLUDE [DOID:2632]
synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [DOID:2632]
xref: DOID:2632 {source="MONDO:equivalentTo"}
xref: ICDO:8460/3 {source="NCIT:C8377"}
xref: NCIT:C8377 {source="MONDO:equivalentTo", source="DOID:2632"}
xref: SCTID:716649003 {source="MONDO:kboom-pr-0.75/0.47/0.19", source="MONDO:equivalentTo"}
xref: UMLS:C0334359 {source="NCIT:C8377", source="MONDO:equivalentTo", source="DOID:2632"}
is_a: MONDO:0005074 {source="MONDO:Redundant", source="NCIT:C8377"} ! papillary cystadenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="MONDOLEX:0002368", source="NCIT:C8377"} ! serous cystadenocarcinoma
intersection_of: MONDO:0005074 {source="NCIT:C8377"} ! papillary cystadenocarcinoma
intersection_of: MONDO:0024621 {source="NCIT:C8377"} ! serous cystadenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/15674004
property_value: closeMatch http://identifiers.org/snomedct/90282004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334361
property_value: exactMatch DOID:2632
property_value: exactMatch http://identifiers.org/snomedct/716649003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334359
property_value: exactMatch NCIT:C8377

[Term]
id: MONDO:0002369
name: cystadenoma
def: "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." [NCIT:C2972]
synonym: "cystadenoma" EXACT [NCIT:C2972]
synonym: "cystadenoma (morphologic abnormality)" EXACT [DOID:2634]
synonym: "cystadenoma, benign" EXACT [NCIT:C2972]
synonym: "cystoma" EXACT [DOID:2634, NCIT:C2972]
xref: DOID:2634 {source="MONDO:equivalentTo"}
xref: ICDO:8440/0 {source="NCIT:C2972"}
xref: MESH:D003537 {source="MONDO:equivalentTo", source="DOID:2634", source="MONDO:ontobio"}
xref: NCIT:C2972 {source="MONDO:equivalentTo", source="DOID:2634", source="exact-label-match"}
xref: UMLS:C0010633 {source="MONDO:equivalentTo", source="DOID:2634", source="NCIT:C2972"}
is_a: MONDO:0004972 {source="DOID:2634", source="MESH:D003537"} ! adenoma
is_a: MONDO:0021077 {source="NCIT:C2972"} ! cystic neoplasm
is_a: MONDO:0024276 {source="NCIT:C2972"} ! glandular cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189680006
property_value: closeMatch http://identifiers.org/snomedct/47620003
property_value: exactMatch DOID:2634
property_value: exactMatch http://identifiers.org/mesh/D003537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010633
property_value: exactMatch NCIT:C2972

[Term]
id: MONDO:0002370
name: ovarian Brenner tumor
def: "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." [NCIT:C3872]
synonym: "benign ovarian Brenner tumor" EXACT [DOID:2636]
synonym: "Brenner neoplasm of ovary" EXACT [NCIT:C3872]
synonym: "Brenner neoplasm of the ovary" EXACT [NCIT:C3872]
synonym: "Brenner tumor" BROAD [NCIT:C3872]
synonym: "Brenner tumor of ovary" EXACT [NCIT:C3872]
synonym: "Brenner tumor of the ovary" EXACT [NCIT:C3872]
synonym: "ovarian Brenner neoplasm" EXACT [NCIT:C3872]
synonym: "ovarian Brenner tumor" EXACT [NCIT:C3872]
synonym: "ovary Brenner tumor" EXACT [MONDO:patterns/location]
xref: DOID:2636 {source="MONDO:equivalentTo"}
xref: EFO:1000112 {source="MONDO:equivalentTo"}
xref: GARD:0009397 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:D001948 {source="MONDO:equivalentTo", source="DOID:2636", source="MONDO:ontobio"}
xref: NCIT:C3872 {source="MONDO:equivalentTo", source="DOID:2636"}
xref: SCTID:254859006 {source="MONDO:equivalentTo", source="DOID:2636", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002229 ! ovarian epithelial tumor
is_a: MONDO:0024235 {source="MONDO:Redundant", source="NCIT:C3872"} ! Brenner tumor
property_value: closeMatch http://identifiers.org/snomedct/189818009
property_value: closeMatch http://identifiers.org/snomedct/189819001
property_value: closeMatch http://identifiers.org/snomedct/74739000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006160
property_value: exactMatch DOID:2636
property_value: exactMatch http://identifiers.org/mesh/D001948
property_value: exactMatch http://identifiers.org/snomedct/254859006
property_value: exactMatch NCIT:C3872

[Term]
id: MONDO:0002371
name: breast pericanalicular fibroadenoma
def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." [NCIT:C4272]
synonym: "breast pericanalicular fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular breast fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular fibroadenoma (morphologic abnormality)" EXACT [DOID:2639]
synonym: "pericanalicular fibroadenoma of breast" EXACT [DOID:2639, NCIT:C4272]
synonym: "pericanalicular fibroadenoma of the breast" EXACT [NCIT:C4272]
xref: DOID:2639 {source="MONDO:equivalentTo"}
xref: ICDO:9012/0 {source="NCIT:C4272"}
xref: NCIT:C4272 {source="MONDO:equivalentTo", source="DOID:2639", source="exact-label-match"}
xref: UMLS:C0334497 {source="NCIT:C4272", source="MONDO:equivalentTo", source="DOID:2639"}
is_a: MONDO:0002056 {source="DOID:2639", source="NCIT:C4272"} ! breast fibroadenoma
property_value: closeMatch http://identifiers.org/snomedct/41382006
property_value: exactMatch DOID:2639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334497
property_value: exactMatch NCIT:C4272

[Term]
id: MONDO:0002372
name: ovarian monodermal and highly specialized teratoma
def: "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." [NCIT:C8113]
synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [NCIT:C8113]
synonym: "ovarian monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113]
xref: DOID:2641 {source="MONDO:equivalentTo"}
xref: NCIT:C8113 {source="DOID:2641", source="MONDO:equivalentTo"}
xref: UMLS:C0280134 {source="NCIT:C8113", source="DOID:2641", source="MONDO:equivalentTo"}
is_a: MONDO:0003331 {source="DOID:2641", source="NCIT:C8113"} ! ovarian monodermal teratoma
property_value: exactMatch DOID:2641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280134
property_value: exactMatch NCIT:C8113

[Term]
id: MONDO:0002373
name: benign mesothelioma
def: "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." [PMID:30285380]
synonym: "benign tumor of mesothelial tissue" EXACT []
synonym: "benign tumor of mesothelium" EXACT [DOID:2645, NCIT:C4280]
synonym: "mesothelioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:2645 {source="MONDO:equivalentTo"}
xref: ICD10:C45 {source="MONDO:relatedTo", source="DOID:2645"}
xref: ICD10:C45.9 {source="DOID:2645"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:254825007 {source="MONDO:equivalentTo"}
xref: UMLS:C0348424 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005065 ! mesothelioma
is_a: MONDO:0005165 {source="DOID:2645", source="DOID:2645/inferred", source="MONDO:Redundant", source="MONDOLEX:0002373", source="linkedlifedata"} ! benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154491004
property_value: closeMatch http://identifiers.org/snomedct/187873000
property_value: closeMatch http://identifiers.org/snomedct/189837000
property_value: closeMatch http://identifiers.org/snomedct/190110008
property_value: closeMatch http://identifiers.org/snomedct/62064005
property_value: exactMatch DOID:2645
property_value: exactMatch http://identifiers.org/snomedct/254825007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348424

[Term]
id: MONDO:0002374
name: obsolete parachordoma
is_obsolete: true
replaced_by: MONDO:0006351

[Term]
id: MONDO:0002375
name: sebaceous adenoma
def: "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." [NCIT:C4174]
synonym: "adenoma of sebaceous gland" EXACT [NCIT:C4174]
synonym: "adenoma of the sebaceous gland" EXACT [DOID:2648, NCIT:C4174]
synonym: "adenoma, sebaceous, benign" EXACT [NCIT:C4174]
synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [DOID:2648]
synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location]
synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648]
xref: DOID:2648 {source="MONDO:equivalentTo"}
xref: ICDO:8410/0 {source="NCIT:C4174"}
xref: NCIT:C4174 {source="MONDO:equivalentTo", source="DOID:2648", source="exact-label-match"}
xref: UMLS:C1368816 {source="NCIT:C4174", source="MONDO:equivalentTo", source="DOID:2648"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C4174/inferred", source="OWLReasoner:2017"} ! adenoma
is_a: MONDO:0006963 {source="DOID:2648", source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! sebaceous gland neoplasm
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! epithelial skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/78424008
property_value: exactMatch DOID:2648
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368816
property_value: exactMatch NCIT:C4174

[Term]
id: MONDO:0002376
name: spleen angiosarcoma
def: "A malignant vascular neoplasm arising from the spleen." [NCIT:P378]
synonym: "angiosarcoma (disease) of spleen" EXACT []
synonym: "angiosarcoma of spleen" EXACT [NCIT:C4564]
synonym: "angiosarcoma of the spleen" EXACT [NCIT:C4564]
synonym: "hemangiosarcoma of spleen" EXACT [NCIT:C4564]
synonym: "hemangiosarcoma of the spleen" EXACT [NCIT:C4564]
synonym: "spleen angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "splenic angiosarcoma" EXACT [NCIT:C4564]
synonym: "splenic hemangiosarcoma" EXACT [DOID:265, NCIT:C4564]
xref: DOID:265 {source="MONDO:equivalentTo"}
xref: ICD9:159.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4564 {source="MONDO:equivalentTo", source="DOID:265", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:187821001 {source="MONDO:equivalentTo", source="DOID:265", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346424 {source="MONDO:equivalentTo", source="NCIT:C4564", source="DOID:265"}
is_a: MONDO:0005966 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! spleen cancer
is_a: MONDO:0016982 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred", source="linkedlifedata"} ! angiosarcoma (disease)
property_value: exactMatch DOID:265
property_value: exactMatch http://identifiers.org/snomedct/187821001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346424
property_value: exactMatch NCIT:C4564

[Term]
id: MONDO:0002377
name: breast intracanalicular fibroadenoma
def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." [NCIT:C4271]
synonym: "breast intracanalicular fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular breast fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma of breast" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma of the breast" EXACT [NCIT:C4271]
xref: DOID:2656 {source="MONDO:equivalentTo"}
xref: ICDO:9011/0 {source="NCIT:C4271"}
xref: NCIT:C4271 {source="MONDO:equivalentTo", source="DOID:2656", source="exact-label-match"}
xref: UMLS:C0334496 {source="NCIT:C4271", source="MONDO:equivalentTo", source="DOID:2656"}
is_a: MONDO:0002056 {source="DOID:2656", source="NCIT:C4271"} ! breast fibroadenoma
property_value: closeMatch http://identifiers.org/snomedct/189821006
property_value: closeMatch http://identifiers.org/snomedct/72905006
property_value: exactMatch DOID:2656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334496
property_value: exactMatch NCIT:C4271

[Term]
id: MONDO:0002378
name: dermoid cyst
def: "A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin." [NCIT:C9011]
synonym: "benign cystic teratoma" EXACT [NCIT:C9011]
synonym: "cystic dermoid choristoma" EXACT [DOID:2658]
synonym: "dermoid" EXACT [NCIT:C9011]
synonym: "dermoid choristoma" EXACT [DOID:2658]
synonym: "dermoid cyst" EXACT [NCIT:C9011]
synonym: "dermoid cyst, benign" EXACT [NCIT:C9011]
synonym: "dermoid tumor" EXACT [NCIT:C9011]
synonym: "dermoid tumour" EXACT [DOID:2658]
synonym: "mature cystic teratoma" EXACT [DOID:2658, NCIT:C9011]
synonym: "subcutaneous cystic teratoma" EXACT [NCIT:C9011]
synonym: "teratoma, benign" RELATED [DOID:2658]
synonym: "teratoma, benign (morphologic abnormality)" RELATED [DOID:2658]
xref: DOID:2658 {source="MONDO:equivalentTo"}
xref: EFO:1000894 {source="MONDO:equivalentTo"}
xref: ICD10:K09.8 {source="DOID:2658"}
xref: ICDO:9084/0 {source="NCIT:C9011"}
xref: MESH:D003884 {source="MONDO:equivalentTo", source="DOID:2658"}
xref: NCIT:C9011 {source="MONDO:equivalentTo", source="DOID:2658", source="exact-label-match"}
xref: SCTID:441459009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0011649 {source="MONDO:equivalentTo", source="DOID:2658", source="NCIT:C9011"}
xref: UMLS:C2355625 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2700593 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002379 {source="DOID:2658", source="MONDOLEX:0002378", source="NCIT:C9011"} ! cystic teratoma
property_value: closeMatch http://identifiers.org/snomedct/123151001
property_value: closeMatch http://identifiers.org/snomedct/189117002
property_value: closeMatch http://identifiers.org/snomedct/189845005
property_value: closeMatch http://identifiers.org/snomedct/269641006
property_value: closeMatch http://identifiers.org/snomedct/416529009
property_value: closeMatch http://identifiers.org/snomedct/417137001
property_value: closeMatch http://identifiers.org/snomedct/417609007
property_value: closeMatch http://identifiers.org/snomedct/419952004
property_value: closeMatch http://identifiers.org/snomedct/439575008
property_value: closeMatch http://identifiers.org/snomedct/72277008
property_value: exactMatch DOID:2658
property_value: exactMatch http://identifiers.org/mesh/D003884
property_value: exactMatch http://identifiers.org/snomedct/441459009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700593
property_value: exactMatch NCIT:C9011

[Term]
id: MONDO:0002379
name: cystic teratoma
synonym: "cystic teratoma" EXACT [NCIT:C9014]
xref: DOID:2660 {source="MONDO:equivalentTo"}
xref: NCIT:C9014 {source="DOID:2660", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1368903 {source="DOID:2660", source="NCIT:C9014", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="DOID:2660", source="MONDO:Redundant", source="NCIT:C9014"} ! teratoma
property_value: closeMatch http://identifiers.org/snomedct/42717009
property_value: exactMatch DOID:2660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368903
property_value: exactMatch NCIT:C9014

[Term]
id: MONDO:0002380
name: myoepithelial tumor
def: "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C40392]
synonym: "benign myoepithelioma" EXACT [DOID:2661, NCIT:C7442]
synonym: "myoepithelial adenoma" EXACT [DOID:2661]
synonym: "myoepithelial neoplasm" EXACT [DOID:2661, NCIT:C40392]
synonym: "myoepithelial tumor" EXACT [NCIT:C40392]
synonym: "myoepithelioma" EXACT [NCIT:C40392]
xref: DOID:2661 {source="MONDO:equivalentTo"}
xref: ICDO:8982/0 {source="NCIT:C40392"}
xref: ICDO:8982/1 {source="NCIT:C40392"}
xref: MESH:D009208 {source="DOID:2661", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C40392 {source="DOID:2661", source="MONDO:equivalentTo"}
xref: UMLS:C0027070 {source="DOID:2661", source="MONDO:equivalentTo", source="NCIT:C40392"}
xref: UMLS:C1947949 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 ! epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/69291002
property_value: exactMatch DOID:2661
property_value: exactMatch http://identifiers.org/mesh/D009208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1947949
property_value: exactMatch NCIT:C40392

[Term]
id: MONDO:0002381
name: sweat gland neoplasm
alt_id: MONDO:0021219
def: "A benign or malignant neoplasm arising from the sweat glands." [NCIT:C3398]
synonym: "neoplasm of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "neoplasm of the sweat gland" EXACT [NCIT:C3398]
synonym: "sweat gland neoplasm" EXACT [NCIT:C3398]
synonym: "sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasms" EXACT [NCIT:C3398]
synonym: "sweat gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "sweat gland tumor (morphologic abnormality)" EXACT [DOID:2664]
synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [DOID:2664]
synonym: "tumor of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "tumor of the sweat gland" EXACT [DOID:2664, NCIT:C3398]
xref: DOID:2664 {source="MONDO:equivalentTo"}
xref: EFO:1001204 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8400/1 {source="NCIT:C3398"}
xref: MESH:D013544 {source="DOID:2664", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3398 {source="DOID:2664", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126490003 {source="DOID:2664", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.32"}
xref: UMLS:C0038987 {source="DOID:2664", source="MONDO:equivalentTo", source="NCIT:C3398"}
is_a: MONDO:0002297 {source="NCIT:C3398"} ! epidermal appendage tumor
is_a: MONDO:0006615 {source="DOID:2664", source="MESH:D013544", source="MONDO:Redundant", source="linkedlifedata"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/12933008
property_value: closeMatch http://identifiers.org/snomedct/189665000
property_value: exactMatch DOID:2664
property_value: exactMatch http://identifiers.org/mesh/D013544
property_value: exactMatch http://identifiers.org/snomedct/126490003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038987
property_value: exactMatch NCIT:C3398

[Term]
id: MONDO:0002382
name: benign mesenchymoma
def: "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378]
synonym: "mesenchymal tumor, benign" EXACT [NCIT:C4267]
synonym: "mesenchymoma, benign" EXACT [MONDO:patterns/benign]
synonym: "mesenchymoma, benign (morphologic abnormality)" EXACT [DOID:2667]
xref: DOID:2667 {source="MONDO:equivalentTo"}
xref: ICDO:8990/0 {source="NCIT:C4267"}
xref: NCIT:C4267 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2667"}
xref: UMLS:C0334491 {source="MONDO:equivalentTo", source="NCIT:C4267", source="DOID:2667"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0006854 {source="DOID:2667", source="MONDO:Redundant", source="NCIT:C4267"} ! mesenchymoma
property_value: closeMatch http://identifiers.org/snomedct/38406003
property_value: exactMatch DOID:2667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334491
property_value: exactMatch NCIT:C4267

[Term]
id: MONDO:0002383
name: Pacinian tumor
def: "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." [NCIT:P378]
synonym: "Pacinian neurofibroma" EXACT [DOID:2669, NCIT:C4328]
synonym: "Pacinian tumor (morphologic abnormality)" EXACT [DOID:2669]
xref: DOID:2669 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9507/0 {source="NCIT:C4328"}
xref: NCIT:C4328 {source="MONDO:equivalentTo", source="DOID:2669", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:404033003 {source="MONDO:equivalentTo", source="DOID:2669", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334599 {source="MONDO:equivalentTo", source="DOID:2669", source="NCIT:C4328"}
is_a: MONDO:0016755 {source="DOID:2669", source="NCIT:C4328", source="linkedlifedata"} ! neurofibroma
property_value: closeMatch http://identifiers.org/snomedct/4230004
property_value: exactMatch DOID:2669
property_value: exactMatch http://identifiers.org/snomedct/404033003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334599
property_value: exactMatch NCIT:C4328

[Term]
id: MONDO:0002384
name: obsolete transitional cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006474

[Term]
id: MONDO:0002385
name: benign cystic nephroma
def: "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." [NCIT:C7504]
synonym: "benign cystic nephroma" EXACT [NCIT:C7504]
synonym: "benign multilocular cystic nephroma" EXACT [https://en.wikipedia.org/wiki/Cystic_nephroma]
synonym: "cystic nephroma" EXACT [NCIT:C7504]
xref: DOID:2673 {source="MONDO:equivalentTo"}
xref: EFO:1000213 {source="MONDO:equivalentTo"}
xref: ICDO:8959/0 {source="NCIT:C7504"}
xref: NCIT:C7504 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266138 {source="MONDO:equivalentTo", source="NCIT:C7504"}
is_a: MONDO:0002513 {source="DOID:2673", source="NCIT:C7504"} ! kidney benign neoplasm
property_value: exactMatch DOID:2673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266138
property_value: exactMatch NCIT:C7504

[Term]
id: MONDO:0002386
name: mixed epithelial stromal tumor of the kidney
def: "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." [NCIT:C37263]
synonym: "adult mesoblastic nephroma" RELATED [NCIT:C37263]
synonym: "benign MEST" EXACT [DOID:2678, NCIT:C37264]
synonym: "MEST" EXACT [DOID:2678, NCIT:C37263]
synonym: "mixed epithelial and stromal tumour of kidney" EXACT [DOID:2678]
synonym: "mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37263]
xref: DOID:2678 {source="MONDO:equivalentTo"}
xref: EFO:1000381 {source="MONDO:equivalentTo"}
xref: NCIT:C37263 {source="MONDO:equivalentTo", source="DOID:2678"}
xref: UMLS:C1272677 {source="MONDO:equivalentTo", source="DOID:2678"}
is_a: MONDO:0003272 ! mixed epithelial stromal tumor
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C37263", source="OWLReasoner:2017"} ! kidney neoplasm
property_value: closeMatch http://identifiers.org/snomedct/388985009
property_value: closeMatch NCIT:C37264
property_value: exactMatch DOID:2678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1272677
property_value: exactMatch NCIT:C37263

[Term]
id: MONDO:0002387
name: liver angiosarcoma
def: "A malignant vascular neoplasm arising from the liver." [NCIT:C4438]
subset: gard_rare {source="GARD:0005813"}
synonym: "angiosarcoma (disease) of liver" EXACT []
synonym: "angiosarcoma of liver" EXACT [DOID:268, NCIT:C4438]
synonym: "angiosarcoma of the liver" EXACT [GARD:0005813, NCIT:C4438]
synonym: "hemangiosarcoma of liver" EXACT [NCIT:C4438]
synonym: "hemangiosarcoma of the liver" EXACT [DOID:268, NCIT:C4438]
synonym: "hepatic angiosarcoma" EXACT [NCIT:C4438]
synonym: "hepatic hemangiosarcoma" EXACT [NCIT:C4438]
synonym: "Lias" RELATED [ONCOTREE:LIAS]
synonym: "liver angiosarcoma" EXACT [NCIT:C4438]
synonym: "liver angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "liver hemangiosarcoma" EXACT [NCIT:C4438]
synonym: "primary angiosarcoma of liver" EXACT [NCIT:C4438]
synonym: "primary angiosarcoma of the liver" EXACT [NCIT:C4438]
xref: DOID:268 {source="MONDO:equivalentTo"}
xref: GARD:0005813 {source="MONDO:equivalentTo"}
xref: ICD10:C22.3 {source="MONDO:equivalentTo", source="DOID:268"}
xref: ICDO:9124/3 {source="NCIT:C4438"}
xref: NCIT:C4438 {source="MONDO:equivalentTo", source="DOID:268"}
xref: ONCOTREE:LIAS {source="MONDO:equivalentTo"}
xref: SCTID:109844006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/9.73", source="DOID:268"}
xref: UMLS:C0345907 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4438", source="DOID:268"}
is_a: MONDO:0002397 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438", source="linkedlifedata"} ! liver sarcoma
is_a: MONDO:0002405 {source="NCIT:C4438"} ! hepatic vascular disease
is_a: MONDO:0016982 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438/inferred", source="linkedlifedata"} ! angiosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/187770005
property_value: exactMatch DOID:268
property_value: exactMatch http://identifiers.org/snomedct/109844006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345907
property_value: exactMatch NCIT:C4438
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver xsd:anyURI {source="GARD:0005813"}

[Term]
id: MONDO:0002388
name: intracystic papillary adenoma
def: "A papillary epithelial neoplasm arising in a cystically dilated breast duct." [NCIT:P378]
synonym: "intracystic papillary adenoma" EXACT [NCIT:C4191]
synonym: "intracystic papillary adenoma (morphologic abnormality)" EXACT [DOID:2682]
synonym: "intracystic papilloma" EXACT [DOID:2682, NCIT:C4191]
xref: DOID:2682 {source="MONDO:equivalentTo"}
xref: ICDO:8504/0 {source="NCIT:C4191"}
xref: NCIT:C4191 {source="DOID:2682", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334374 {source="DOID:2682", source="MONDO:equivalentTo", source="NCIT:C4191"}
is_a: MONDO:0021097 {source="NCIT:C4191"} ! intraductal breast papilloma
property_value: closeMatch http://identifiers.org/snomedct/47488001
property_value: exactMatch DOID:2682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334374
property_value: exactMatch NCIT:C4191

[Term]
id: MONDO:0002389
name: obsolete adenofibroma
is_obsolete: true
replaced_by: MONDO:0006071

[Term]
id: MONDO:0002390
name: obsolete ossifying fibromyxoid tumor
is_obsolete: true
replaced_by: MONDO:0006330

[Term]
id: MONDO:0002391
name: obsolete skin sarcoma
is_obsolete: true
replaced_by: MONDO:0006414

[Term]
id: MONDO:0002392
name: obsolete lymphangiosarcoma
is_obsolete: true
replaced_by: MONDO:0006282

[Term]
id: MONDO:0002394
name: obsolete Leydig cell tumor
is_obsolete: true
replaced_by: MONDO:0006266

[Term]
id: MONDO:0002395
name: renal adenoma
def: "An adenoma arising from the renal cortex." [NCIT:P378]
synonym: "adenoma, renal cell, benign" EXACT [NCIT:C8383]
synonym: "kidney adenoma" EXACT [NCIT:C8383]
synonym: "renal adenoma" EXACT [NCIT:C8383]
synonym: "renal cell adenoma" EXACT [DOID:2697]
synonym: "renal cell adenoma (morphologic abnormality)" EXACT [DOID:2697]
synonym: "renal tubule adenoma" EXACT [NCIT:C8383]
xref: DOID:2697 {source="MONDO:equivalentTo"}
xref: NCIT:C8383 {source="DOID:2697", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334684 {source="DOID:2697", source="MONDO:equivalentTo", source="NCIT:C8383"}
is_a: MONDO:0002513 ! kidney benign neoplasm
is_a: MONDO:0004972 {source="NCIT:C8383"} ! adenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/41627005
property_value: exactMatch DOID:2697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334684
property_value: exactMatch NCIT:C8383

[Term]
id: MONDO:0002396
name: nephrogenic adenofibroma
def: "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." [NCIT:P378]
synonym: "metanephric adenofibroma" EXACT [DOID:2698, NCIT:C39812]
xref: DOID:2698 {source="MONDO:equivalentTo"}
xref: ICDO:8965/0 {source="NCIT:C39812"}
xref: NCIT:C39812 {source="MONDO:equivalentTo", source="DOID:2698", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1266141 {source="MONDO:equivalentTo", source="DOID:2698", source="NCIT:C39812"}
is_a: MONDO:0002513 {source="DOID:2698", source="NCIT:C39812"} ! kidney benign neoplasm
is_a: MONDO:0021045 {source="NCIT:C39812"} ! fibroepithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128760004
property_value: exactMatch DOID:2698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266141
property_value: exactMatch NCIT:C39812

[Term]
id: MONDO:0002397
name: liver sarcoma
def: "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." [NCIT:C4437]
synonym: "hepatic sarcoma" EXACT [DOID:270, NCIT:C4437]
synonym: "liver sarcoma" EXACT [MONDO:patterns/location, NCIT:C4437]
synonym: "sarcoma of liver" EXACT [MONDO:patterns/sarcoma, NCIT:C4437]
synonym: "sarcoma of the liver" EXACT [NCIT:C4437]
xref: DOID:270 {source="MONDO:equivalentTo"}
xref: NCIT:C4437 {source="MONDO:equivalentTo", source="DOID:270", source="exact-label-match"}
xref: SCTID:254601002 {source="MONDO:equivalentTo", source="DOID:270", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0345906 {source="MONDO:equivalentTo", source="DOID:270", source="NCIT:C4437"}
is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred", source="linkedlifedata"} ! liver cancer
is_a: MONDO:0018078 {source="NCIT:C4437"} ! soft tissue sarcoma
property_value: exactMatch DOID:270
property_value: exactMatch http://identifiers.org/snomedct/254601002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345906
property_value: exactMatch NCIT:C4437

[Term]
id: MONDO:0002398
name: mucinous adenofibroma
def: "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." [NCIT:C8978]
synonym: "mucinous adenofibroma" EXACT [NCIT:C8978]
xref: DOID:2700 {source="MONDO:equivalentTo"}
xref: ICDO:9015/0 {source="NCIT:C8978"}
xref: NCIT:C8978 {source="MONDO:equivalentTo", source="DOID:2700", source="exact-label-match"}
xref: UMLS:C0334499 {source="MONDO:equivalentTo", source="DOID:2700", source="NCIT:C8978"}
is_a: MONDO:0006071 {source="DOID:2700", source="MONDO:Redundant", source="MONDOLEX:0002398", source="NCIT:C8978"} ! adenofibroma
is_a: MONDO:0024338 ! mucinous neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
intersection_of: MONDO:0006071 ! adenofibroma
intersection_of: MONDO:0024338 ! mucinous neoplasm
property_value: closeMatch http://identifiers.org/snomedct/10705005
property_value: exactMatch DOID:2700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334499
property_value: exactMatch NCIT:C8978

[Term]
id: MONDO:0002399
name: tenosynovial giant cell tumor, localized type
alt_id: MONDO:0024812
def: "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." [NCIT:C6532]
synonym: "benign synovioma" EXACT [DOID:2701]
synonym: "benign tumor of synovium" EXACT [DOID:2701, NCIT:C3829]
synonym: "localized giant cell neoplasm of tendon sheath" EXACT [NCIT:C6532]
synonym: "localized giant cell neoplasm of Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized giant cell tumor of tendon sheath" EXACT [NCIT:C6532]
synonym: "localized giant cell tumor of Tenosynovium" EXACT [DOID:2701, NCIT:C6532]
synonym: "localized giant cell tumor of the Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized tenosynovial giant cell neoplasm" EXACT [NCIT:C6532]
synonym: "localized tenosynovial giant cell tumor" EXACT [NCIT:C6532]
synonym: "nodular tenosynovitis" EXACT [NCIT:C6532]
synonym: "synovioma, benign" EXACT EXCLUDE [DOID:2701]
synonym: "synovioma, benign (morphologic abnormality)" EXACT [DOID:2701]
synonym: "tenosynovial giant cell tumor, localized type" EXACT [NCIT:C6532]
xref: COHD:436200 {source="MONDO:equivalentTo"}
xref: DOID:2701 {source="MONDO:equivalentTo"}
xref: ICD9:727.02 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C6532 {source="MONDO:equivalentTo", source="DOID:2701"}
xref: SCTID:95413004 {source="MONDO:equivalentTo", source="DOID:2701", source="MONDO:kboom-pr-0.93/0.76/1.28"}
xref: UMLS:C0588125 {source="MONDO:equivalentTo", source="NCIT:C6532", source="DOID:2701"}
is_a: MONDO:0002522 {source="MONDOLEX:0002399", source="NCIT:C6532"} ! tenosynovial giant cell tumor
is_a: MONDO:0024715 {source="MONDO:Redundant", source="MONDOLEX:0002399", source="NCIT:C6532"} ! benign synovial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/5178002
property_value: closeMatch http://identifiers.org/snomedct/703702007
property_value: closeMatch http://identifiers.org/snomedct/71508003
property_value: exactMatch DOID:2701
property_value: exactMatch http://identifiers.org/snomedct/95413004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0588125
property_value: exactMatch NCIT:C6532

[Term]
id: MONDO:0002400
name: synovitis (disease)
def: "Inflammation of a synovial membrane." [NCIT:C50766]
synonym: "inflammation of synovial membrane of synovial joint" EXACT []
synonym: "synovial membrane of synovial joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Synovitides" RELATED [MESH:D013585]
synonym: "synovitis" EXACT [MONDO:ambiguous]
xref: DOID:2703 {source="MONDO:equivalentTo"}
xref: EFO:0008997 {source="MONDO:equivalentTo"}
xref: GARD:0007722 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100769 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D013585 {source="MONDO:equivalentTo", source="DOID:2703", source="MONDO:ontobio"}
xref: NCIT:C50766 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2703"}
xref: SCTID:416209007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.24", source="DOID:2703"}
is_a: MONDO:0005578 ! arthritis
is_a: MONDO:0043786 ! serositis
is_a: MONDO:0056799 ! synovium disease
relationship: disease_has_feature MONDO:0005578 ! arthritis
property_value: closeMatch http://identifiers.org/snomedct/14107000
property_value: closeMatch http://identifiers.org/snomedct/156666009
property_value: closeMatch http://identifiers.org/snomedct/268092005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039103
property_value: exactMatch DOID:2703
property_value: exactMatch http://identifiers.org/mesh/D013585
property_value: exactMatch http://identifiers.org/snomedct/416209007
property_value: exactMatch NCIT:C50766

[Term]
id: MONDO:0002401
name: malignant tenosynovial giant cell tumor
def: "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." [NCIT:C6535]
synonym: "giant cell tumour of tendon sheath, malignant" EXACT [DOID:2704]
synonym: "malignant giant cell neoplasm of tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant giant cell neoplasm of the tendon sheath" EXACT [DOID:2704, NCIT:C6535]
synonym: "malignant giant cell tumor of tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant giant cell tumor of the tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant tendon sheath giant cell neoplasm" EXACT [NCIT:C6535]
synonym: "malignant tendon sheath giant cell tumor" EXACT [NCIT:C6535]
synonym: "malignant tenosynovial giant cell tumor" EXACT [NCIT:C6535]
synonym: "tenosynovial giant cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:2704 {source="MONDO:equivalentTo"}
xref: ICDO:9252/3 {source="NCIT:C6535"}
xref: NCIT:C6535 {source="MONDO:kboom-pr-1.00/0.91/28.13", source="MONDO:equivalentTo", source="DOID:2704"}
xref: UMLS:C1266168 {source="MONDO:equivalentTo", source="NCIT:C6535", source="DOID:2704"}
is_a: MONDO:0002402 {source="MONDO:Redundant", source="MONDOLEX:0002401", source="NCIT:C6535"} ! malignant giant cell tumor
is_a: MONDO:0002403 {source="DOID:2704", source="MONDO:Redundant", source="NCIT:C6535"} ! synovium cancer
is_a: MONDO:0002522 {source="MONDOLEX:0002401", source="NCIT:C6535"} ! tenosynovial giant cell tumor
property_value: closeMatch http://identifiers.org/snomedct/128778009
property_value: exactMatch DOID:2704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266168
property_value: exactMatch NCIT:C6535

[Term]
id: MONDO:0002402
name: malignant giant cell tumor
def: "A malignant neoplasm characterized by then presence of atypical giant cells." [NCIT:C4090]
synonym: "giant cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4090]
synonym: "malignant giant cell neoplasm" EXACT [DOID:2705, NCIT:C4090]
synonym: "malignant giant cell tumor" EXACT [NCIT:C4090]
synonym: "malignant tumor, giant cell type" EXACT [DOID:2705]
synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [DOID:2705]
xref: DOID:2705 {source="MONDO:equivalentTo"}
xref: ICDO:8003/3 {source="NCIT:C4090"}
xref: NCIT:C4090 {source="MONDO:equivalentTo", source="DOID:2705"}
xref: UMLS:C0334229 {source="MONDO:equivalentTo", source="NCIT:C4090", source="DOID:2705"}
is_a: MONDO:0002171 {source="DOID:2705", source="MONDO:Redundant", source="MONDOLEX:0002402"} ! giant cell tumor
is_a: MONDO:0004992 ! cancer
property_value: closeMatch http://identifiers.org/snomedct/83950009
property_value: exactMatch DOID:2705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334229
property_value: exactMatch NCIT:C4090

[Term]
id: MONDO:0002403
name: synovium cancer
def: "A cancer that involves the layer of synovial tissue." [MONDO:patterns/location]
synonym: "cancer of layer of synovial tissue" EXACT [MONDO:patterns/cancer]
synonym: "cancer of synovial membrane of synovial joint" EXACT [MONDO:patterns/cancer]
synonym: "layer of synovial tissue cancer" EXACT [MONDO:patterns/location]
synonym: "malignant layer of synovial tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of layer of synovial tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of synovial membrane of synovial joint" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of synovium" EXACT [NCIT:C6531]
synonym: "malignant neoplasm of the synovium" EXACT [NCIT:C6531]
synonym: "malignant synovial membrane of synovial joint neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant synovial neoplasm" EXACT [NCIT:C6531]
synonym: "malignant synovial tumor" EXACT [NCIT:C6531]
synonym: "malignant tumor of synovium" EXACT [DOID:2706, NCIT:C6531]
synonym: "malignant tumor of the synovium" EXACT [NCIT:C6531]
synonym: "synovial membrane of synovial joint cancer" EXACT []
xref: DOID:2706 {source="MONDO:equivalentTo"}
xref: NCIT:C6531 {source="MONDO:kboom-pr-1.00/0.91/27.12", source="MONDO:equivalentTo", source="DOID:2706"}
xref: UMLS:C1334624 {source="NCIT:C6531", source="MONDO:equivalentTo", source="DOID:2706"}
is_a: MONDO:0002176 {source="DOID:2706", source="MONDO:Redundant"} ! connective tissue cancer
is_a: MONDO:0002528 {source="NCIT:C6531"} ! synovium neoplasm
property_value: exactMatch DOID:2706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334624
property_value: exactMatch NCIT:C6531

[Term]
id: MONDO:0002404
name: liver hemangioma
def: "A hemangioma arising from the liver." [NCIT:C3869]
synonym: "angioma of liver" EXACT [DOID:271, NCIT:C3869]
synonym: "angioma of the liver" RELATED [NCIT:C3869]
synonym: "hemangioma of liver" EXACT []
synonym: "hemangioma of liver" RELATED [NCIT:C3869]
synonym: "hemangioma of the liver" RELATED [NCIT:C3869]
synonym: "hepatic angioma" EXACT [DOID:271, NCIT:C3869]
synonym: "hepatic hemangioma" RELATED [NCIT:C3869]
synonym: "liver angioma" RELATED [NCIT:C3869]
synonym: "liver hemangioma" EXACT [MONDO:patterns/location, NCIT:C3869]
xref: DOID:271 {source="MONDO:equivalentTo"}
xref: NCIT:C3869 {source="NCIT:C3869", source="DOID:271", source="MONDO:equivalentTo"}
xref: SCTID:93469006 {source="MONDO:kboom-pr-1.00/0.79/8.02", source="DOID:271", source="MONDO:equivalentTo"}
xref: UMLS:C0238246 {source="NCIT:C3869", source="DOID:271", source="MONDO:equivalentTo"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3869/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0002337 {source="DOID:271", source="NCIT:C3869", source="linkedlifedata"} ! intra-abdominal hemangioma
is_a: MONDO:0004721 ! liver neoplasm
property_value: closeMatch http://identifiers.org/snomedct/235879002
property_value: exactMatch DOID:271
property_value: exactMatch http://identifiers.org/snomedct/93469006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238246
property_value: exactMatch NCIT:C3869

[Term]
id: MONDO:0002405
name: hepatic vascular disease
def: "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." [NCIT:P378]
synonym: "hepatic vascular disorder" EXACT [NCIT:C35442]
synonym: "liver vascular disorder" EXACT [NCIT:C35442]
synonym: "vascular disorder of liver" EXACT [DOID:272]
xref: DOID:272 {source="MONDO:equivalentTo"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35442 {source="MONDO:equivalentTo", source="DOID:272", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: SCTID:235878005 {source="MONDO:equivalentTo", source="DOID:272", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0400923 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35442", source="DOID:272"}
is_a: MONDO:0005154 {source="DOID:272", source="NCIT:C35442", source="linkedlifedata"} ! liver disease
is_a: MONDO:0005385 {source="DOID:272", source="NCIT:C35442", source="linkedlifedata", source="linkedlifedata/inferred"} ! vascular disease
property_value: exactMatch DOID:272
property_value: exactMatch http://identifiers.org/snomedct/235878005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400923
property_value: exactMatch NCIT:C35442

[Term]
id: MONDO:0002406
name: dermatitis
def: "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." [NCIT:C2983]
synonym: "eczema" EXACT EXCLUDE [DOID:2723]
synonym: "inflammation of skin" EXACT [NCIT:C2983]
synonym: "inflammation of the skin" EXACT [NCIT:C2983]
synonym: "inflammation of zone of skin" EXACT []
synonym: "skin inflammation" EXACT [DOID:2723]
synonym: "zone of skin inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2723 {source="MONDO:equivalentTo"}
xref: ICD10:L30.9 {source="DOID:2723"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003872 {source="MONDO:equivalentTo", source="DOID:2723"}
xref: NCIT:C2983 {source="MONDO:equivalentTo", source="DOID:2723"}
xref: SCTID:43116000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.77", source="DOID:2723"}
xref: UMLS:C0011603 {source="MONDO:equivalentTo", source="DOID:2723", source="NCIT:C2983"}
is_a: MONDO:0005093 {source="DOID:2723", source="MESH:D003872", source="MONDO:Redundant", source="NCIT:C2983/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/156358005
property_value: closeMatch http://identifiers.org/snomedct/156388001
property_value: closeMatch http://identifiers.org/snomedct/182782007
property_value: closeMatch http://identifiers.org/snomedct/200884006
property_value: closeMatch http://identifiers.org/snomedct/238538009
property_value: closeMatch http://identifiers.org/snomedct/267847004
property_value: closeMatch http://identifiers.org/snomedct/267856007
property_value: closeMatch http://identifiers.org/snomedct/4979002
property_value: closeMatch http://identifiers.org/snomedct/703938007
property_value: exactMatch DOID:2723
property_value: exactMatch http://identifiers.org/mesh/D003872
property_value: exactMatch http://identifiers.org/snomedct/43116000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011603
property_value: exactMatch NCIT:C2983

[Term]
id: MONDO:0002407
name: capillary hemangioma
def: "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." [NCIT:C7457]
synonym: "capillary angioma" EXACT [NCIT:C7457]
synonym: "capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C7457]
synonym: "capillary hemangioma (morphologic abnormality)" EXACT [DOID:2725]
synonym: "cellular hemangioma of infancy" EXACT [DOID:2725]
synonym: "cellular hemangioma of infancy (strawberry nevus)" EXACT [DOID:2725, NCIT:C7394]
synonym: "congenital vascular hamartoma" EXACT [DOID:2725]
synonym: "congenital vascular naevus" EXACT [DOID:2725]
synonym: "infantile hemangioma" EXACT [DOID:2725, NCIT:C7459]
synonym: "juvenile hemangioma" EXACT [DOID:2725, NCIT:C7458]
synonym: "strawberry haemangioma" EXACT [DOID:2725]
synonym: "strawberry nevus" EXACT [DOID:2725, MTHICD9_2006:757.32]
synonym: "strawberry nevus of skin" EXACT [DOID:2725]
xref: DOID:2725 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.5 {source="DOID:2725"}
xref: ICDO:9131/0 {source="NCIT:C7457"}
xref: MESH:D018324 {source="MONDO:equivalentTo", source="DOID:2725", source="MONDO:ontobio"}
xref: NCIT:C7457 {source="MONDO:equivalentTo"}
xref: SCTID:56975005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.19", source="DOID:2725"}
xref: UMLS:C0206733 {source="MONDO:equivalentTo", source="DOID:2725"}
is_a: MONDO:0006500 {source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma
disjoint_from: MONDO:0018715 ! congenital hemangioma
property_value: closeMatch http://identifiers.org/snomedct/205560007
property_value: closeMatch http://identifiers.org/snomedct/254206003
property_value: closeMatch http://identifiers.org/snomedct/402867006
property_value: closeMatch http://identifiers.org/snomedct/83343001
property_value: closeMatch NCIT:C6645
property_value: exactMatch DOID:2725
property_value: exactMatch http://identifiers.org/mesh/D018324
property_value: exactMatch http://identifiers.org/snomedct/56975005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206733
property_value: exactMatch NCIT:C7457

[Term]
id: MONDO:0002408
name: hereditary hyperbilirubinemia
def: "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome." [NCIT:C84761]
synonym: "bilirubin metabolic disorder" BROAD [DOID:2741]
synonym: "hereditary hyperbilirubinemia" EXACT [CSP2005:1654-1020, DOID:2741, MONDO:patterns/hereditary]
synonym: "hyperbilirubinaemia" BROAD [DOID:2741]
synonym: "hyperbilirubinemia" BROAD [DOID:2741]
xref: DOID:2741 {source="MONDO:equivalentTo"}
xref: MESH:D006933 {source="DOID:2741", source="MONDO:equivalentTo"}
xref: NCIT:C84761 {source="DOID:2741", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIMPS:237450 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:C0020435 {source="MEDGEN:kboom-pr98-c99", source="DOID:2741", source="MONDO:equivalentTo", source="NCIT:C84761"}
is_a: MONDO:0017755 ! inborn disorder of bilirubin metabolism
is_a: MONDO:0024288 ! hyperbilirubinemia
intersection_of: MONDO:0024288 ! hyperbilirubinemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/mesh/D006932
property_value: closeMatch http://identifiers.org/snomedct/143932000
property_value: closeMatch http://identifiers.org/snomedct/154770008
property_value: closeMatch http://identifiers.org/snomedct/166612004
property_value: closeMatch http://identifiers.org/snomedct/20505009
property_value: closeMatch http://identifiers.org/snomedct/235904007
property_value: closeMatch http://identifiers.org/snomedct/267509000
property_value: exactMatch DOID:2741
property_value: exactMatch http://identifiers.org/mesh/D006933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020435
property_value: exactMatch NCIT:C84761

[Term]
id: MONDO:0002409
name: auditory system disease
def: "A disease involving the auditory system." [MONDO:DesignPattern]
synonym: "auditory disease" EXACT [DOID:2742]
synonym: "auditory system disease" EXACT [MONDO:patterns/location]
synonym: "auditory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of auditory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of auditory system" EXACT []
synonym: "disorder of auditory system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of auditory system" RELATED [MONDO:patterns/location_top]
synonym: "ear and mastoid disease" EXACT [DOID:2742]
xref: DOID:2742 {source="MONDO:equivalentTo"}
xref: EFO:1001455 {source="MONDO:equivalentTo"}
xref: ICD10:H93.9 {source="DOID:2742"}
xref: ICD10:H93.90 {source="DOID:2742"}
xref: ICD9:388.9 {source="MONDO:relatedTo", source="DOID:2742"}
xref: SCTID:362966006 {source="MONDO:equivalentTo"}
is_a: MONDO:0021199 {source="DOID:2742/inferred", source="MONDO:metaclass", source="indirect", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/mesh/D004427
property_value: closeMatch http://identifiers.org/snomedct/155253008
property_value: closeMatch http://identifiers.org/snomedct/155261003
property_value: closeMatch http://identifiers.org/snomedct/194193002
property_value: closeMatch http://identifiers.org/snomedct/194410006
property_value: closeMatch http://identifiers.org/snomedct/267768008
property_value: exactMatch DOID:2742
property_value: exactMatch http://identifiers.org/snomedct/362966006

[Term]
id: MONDO:0002410
name: pyeloureteritis cystica
xref: COHD:199869 {source="MONDO:equivalentTo"}
xref: DOID:2743 {source="MONDO:equivalentTo"}
xref: ICD10:N28.85 {source="DOID:2743", source="MONDO:equivalentTo"}
xref: ICD9:590.3 {source="DOID:2743", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:37779008 {source="DOID:2743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156254 {source="DOID:2743", source="MONDO:equivalentTo"}
is_a: MONDO:0006938 {source="DOID:2743", source="linkedlifedata"} ! pyelitis
property_value: closeMatch http://identifiers.org/snomedct/155864003
property_value: closeMatch http://identifiers.org/snomedct/197776002
property_value: closeMatch http://identifiers.org/snomedct/266555009
property_value: exactMatch DOID:2743
property_value: exactMatch http://identifiers.org/snomedct/37779008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156254

[Term]
id: MONDO:0002411
name: narcissistic personality disorder
def: "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." [NCIT:P378]
xref: COHD:440080 {source="MONDO:equivalentTo"}
xref: DOID:2745 {source="MONDO:equivalentTo"}
xref: ICD10:F60.81 {source="MONDO:equivalentTo", source="DOID:2745"}
xref: ICD9:301.81 {source="MONDO:equivalentTo", source="DOID:2745", source="i2s"}
xref: NCIT:C92635 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2745"}
xref: SCTID:80711002 {source="MONDO:equivalentTo", source="DOID:2745", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:2745", source="NCIT:C92635", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/mesh/D010554
property_value: closeMatch http://identifiers.org/snomedct/192493008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027402
property_value: exactMatch DOID:2745
property_value: exactMatch http://identifiers.org/snomedct/80711002
property_value: exactMatch NCIT:C92635

[Term]
id: MONDO:0002412
name: glycogen storage disease
def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:C61272]
subset: ordo_group_of_disorders {source="Orphanet:79201"}
synonym: "glycogen metabolism disorder" EXACT [DOID:0050728, DOID:2747]
synonym: "glycogen storage disease" EXACT [MONDO:0019244]
synonym: "glycogen storage disorder" EXACT []
synonym: "glycogenoses" EXACT [DOID:2747, https://en.wikipedia.org/wiki/Glycogen_storage_disease]
synonym: "glycogenosis" EXACT [CSP2005:4000-0193, DOID:2747, Orphanet:79201]
synonym: "GSD" EXACT [Orphanet:79201]
synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycogen metabolic process disorder" EXACT []
synonym: "inborn glycogen storage disorder" EXACT []
synonym: "rare inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glycogen metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: COHD:434003 {source="MONDO:equivalentTo"}
xref: DOID:0050728 {source="MONDO:equivalentTo"}
xref: DOID:2747 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:equivalentTo", source="DOID:2747", source="ORDO:79201/specific", source="ORDO:79201/e", source="Orphanet:79201"}
xref: ICD10:E74.00 {source="DOID:2747"}
xref: ICD9:271.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2747"}
xref: MedDRA:10061990 {source="ORDO:79201/e", source="Orphanet:79201"}
xref: MESH:D006008 {source="MONDO:equivalentTo", source="DOID:2747", source="ORDO:79201/e", source="Orphanet:79201"}
xref: NCIT:C61272 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2747"}
xref: Orphanet:79201 {source="MONDO:equivalentTo"}
xref: SCTID:29633007 {source="MONDO:equivalentTo", source="DOID:2747", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017919 {source="MONDO:equivalentTo", source="NCIT:C61272", source="DOID:2747", source="ORDO:79201/e", source="Orphanet:79201"}
is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Redundant", source="Orphanet:79201"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019243 ! inborn disorder of energy metabolism
relationship: excluded_subClassOf MONDO:0000422 {source="DOID:2747"} ! obsolete inborn glycogen metabolism disorder
property_value: closeMatch http://identifiers.org/snomedct/154738008
property_value: closeMatch http://identifiers.org/snomedct/190744005
property_value: closeMatch http://identifiers.org/snomedct/267498002
property_value: exactMatch DOID:0050728
property_value: exactMatch DOID:2747
property_value: exactMatch http://identifiers.org/meddra/10061990
property_value: exactMatch http://identifiers.org/mesh/D006008
property_value: exactMatch http://identifiers.org/snomedct/29633007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017919
property_value: exactMatch NCIT:C61272
property_value: exactMatch Orphanet:79201

[Term]
id: MONDO:0002413
name: glycogen storage disease I
alt_id: MONDO:0018220
def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364]
subset: ordo_disease {source="Orphanet:364"}
synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749]
synonym: "G6P deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease due to glucose-6-phosphatase deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease type 1" EXACT [Orphanet:364]
synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1, Orphanet:364]
synonym: "glycogen storage disease, type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/]
synonym: "glycogenosis type 1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "glycogenosis type I" EXACT [CSP2005:1849-3779, DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364]
synonym: "GSD type 1" EXACT [Orphanet:364]
synonym: "GSD type I" EXACT [Orphanet:364]
synonym: "GSD1" EXACT []
synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364]
synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, MTHICD9_2006:271.0]
xref: DOID:2749 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:364/inclusion", source="ORDO:364/ntbt", source="Orphanet:364"}
xref: ICD10:E74.01 {source="MONDO:equivalentTo", source="DOID:2749"}
xref: MedDRA:10018464 {source="ORDO:364/e", source="Orphanet:364"}
xref: MESH:D005953 {source="MONDO:equivalentTo", source="DOID:2749", source="MONDO:directSiblingOf"}
xref: NCIT:C84733 {source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equivalentTo", source="DOID:2749"}
xref: Orphanet:364 {source="MONDO:equivalentTo"}
xref: SCTID:7265005 {source="MONDO:kboom-pr-0.91/0.78/0.43", source="MONDO:equivalentTo", source="DOID:2749"}
is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
is_a: MONDO:0019743 {source="Orphanet:364"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124437004
property_value: closeMatch http://identifiers.org/snomedct/154738008
property_value: closeMatch http://identifiers.org/snomedct/267498002
property_value: exactMatch DOID:2749
property_value: exactMatch http://identifiers.org/meddra/10018464
property_value: exactMatch http://identifiers.org/mesh/D005953
property_value: exactMatch http://identifiers.org/snomedct/7265005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017920
property_value: exactMatch NCIT:C84733
property_value: exactMatch Orphanet:364

[Term]
id: MONDO:0002414
name: gastric hemangioma
def: "A hemangioma arising from the stomach." [NCIT:C5481]
synonym: "angioma of stomach" EXACT [NCIT:C5481]
synonym: "angioma of the stomach" EXACT [NCIT:C5481]
synonym: "gastric angioma" EXACT [NCIT:C5481]
synonym: "gastric hemangioma" EXACT [NCIT:C5481]
synonym: "hemangioma of stomach" EXACT [DOID:275, NCIT:C5481]
synonym: "hemangioma of the stomach" EXACT [NCIT:C5481]
synonym: "stomach hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:275 {source="MONDO:equivalentTo"}
xref: NCIT:C5481 {source="MONDO:equivalentTo", source="DOID:275", source="exact-label-match"}
xref: UMLS:C1333770 {source="NCIT:C5481", source="MONDO:equivalentTo", source="DOID:275"}
is_a: MONDO:0002337 {source="DOID:275", source="NCIT:C5481"} ! intra-abdominal hemangioma
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C5481/inferred"} ! benign neoplasm of stomach
property_value: exactMatch DOID:275
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333770
property_value: exactMatch NCIT:C5481

[Term]
id: MONDO:0002415
name: bone carcinoma
def: "A carcinoma that involves the bone element." [MONDO:patterns/location]
synonym: "bone element carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bone element" EXACT [MONDO:patterns/carcinoma]
xref: DOID:2762 {source="MONDO:equivalentTo"}
is_a: MONDO:0002129 {source="DOID:2762", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0004993 ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/269568000
property_value: exactMatch DOID:2762

[Term]
id: MONDO:0002416
name: ethmoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
synonym: "epidermoid carcinoma of ethmoid sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of ethmoidal sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of the ethmoid sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT [DOID:2763, NCIT:C6065]
synonym: "ethmoid sinus epidermoid carcinoma" EXACT [NCIT:C6065]
synonym: "ethmoid sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "ethmoidal sinus epidermoid carcinoma" EXACT [NCIT:C6065]
synonym: "ethmoidal sinus squamous cell carcinoma" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of ethmoid sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of ethmoidal sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of the ethmoid sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of the ethmoidal sinus" EXACT [NCIT:C6065]
xref: DOID:2763 {source="MONDO:equivalentTo"}
xref: NCIT:C6065 {source="DOID:2763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:707359008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333477 {source="NCIT:C6065", source="DOID:2763", source="MONDO:equivalentTo"}
is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Redundant", source="NCIT:C6065", source="linkedlifedata/inferred"} ! ethmoid sinus cancer
is_a: MONDO:0044705 ! paranasal sinus squamous cell carcinoma
property_value: exactMatch DOID:2763
property_value: exactMatch http://identifiers.org/snomedct/707359008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333477
property_value: exactMatch NCIT:C6065

[Term]
id: MONDO:0002417
name: obsolete ethmoid sinus adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006201

[Term]
id: MONDO:0002418
name: ethmoid sinus adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the epithelial cell" [MONDO:DesignPattern]
synonym: "adenocarcinoma of ethmoid sinus" RELATED [DOID:2766]
synonym: "adenocarcinoma of the ethmoid sinus" EXACT [DOID:2766, NCIT:C6237]
xref: DOID:2766 {source="MONDO:equivalentTo"}
xref: NCIT:C6237 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2766"}
xref: UMLS:C1333472 {source="MONDO:equivalentTo", source="DOID:2766", source="NCIT:C6237"}
is_a: MONDO:0001763 {source="DOID:2766", source="MONDO:Redundant", source="NCIT:C6237"} ! ethmoid sinus cancer
is_a: MONDO:0004970 {source="DOID:2766/inferred", source="MONDO:Redundant", source="MONDOLEX:0002418", source="NCIT:C6237/inferred"} ! adenocarcinoma
property_value: exactMatch DOID:2766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333472
property_value: exactMatch NCIT:C6237

[Term]
id: MONDO:0002419
name: transient tic disorder
def: "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." [NCIT:P378]
synonym: "benign Tic disorder of childhood" EXACT [NCIT:C116767]
xref: COHD:4210636 {source="MONDO:equivalentTo"}
xref: DOID:2768 {source="MONDO:equivalentTo"}
xref: ICD10:F95.0 {source="MONDO:equivalentTo", source="DOID:2768"}
xref: ICD9:307.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:2768"}
xref: NCIT:C116767 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2768"}
xref: SCTID:56573006 {source="MONDO:equivalentTo", source="DOID:2768", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002420 {source="DOID:2768", source="MONDO:Redundant", source="linkedlifedata"} ! tic disorder
is_a: MONDO:0005395 {source="NCIT:C116767", source="linkedlifedata", source="linkedlifedata/inferred"} ! movement disorder
property_value: closeMatch http://identifiers.org/snomedct/192622000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040702
property_value: exactMatch DOID:2768
property_value: exactMatch http://identifiers.org/snomedct/56573006
property_value: exactMatch NCIT:C116767

[Term]
id: MONDO:0002420
name: tic disorder
def: "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" [MESH:D013981]
xref: COHD:381839 {source="MONDO:equivalentTo"}
xref: DOID:2769 {source="MONDO:equivalentTo"}
xref: ICD10:F95 {source="DOID:2769"}
xref: ICD10:F95.9 {source="DOID:2769"}
xref: ICD9:307.2 {source="DOID:2769"}
xref: ICD9:307.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:2769"}
xref: MESH:D013981 {source="MONDO:equivalentTo", source="DOID:2769"}
xref: SCTID:568005 {source="MONDO:equivalentTo", source="DOID:2769", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0000592 {source="DOID:2769"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/112086008
property_value: closeMatch http://identifiers.org/snomedct/155005001
property_value: closeMatch http://identifiers.org/snomedct/191988002
property_value: closeMatch http://identifiers.org/snomedct/191989005
property_value: closeMatch http://identifiers.org/snomedct/191991002
property_value: closeMatch http://identifiers.org/snomedct/192621007
property_value: closeMatch http://identifiers.org/snomedct/192626002
property_value: closeMatch http://identifiers.org/snomedct/35042001
property_value: closeMatch http://identifiers.org/snomedct/386783003
property_value: closeMatch http://identifiers.org/snomedct/393585001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040188
property_value: exactMatch DOID:2769
property_value: exactMatch http://identifiers.org/mesh/D013981
property_value: exactMatch http://identifiers.org/snomedct/568005

[Term]
id: MONDO:0002421
name: obsolete chorioangioma
is_obsolete: true
replaced_by: MONDO:0006375

[Term]
id: MONDO:0002422
name: adamantinoma
def: "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." [NCIT:C7644]
subset: ordo_disease {source="Orphanet:55881"}
synonym: "adamantinoma" EXACT [NCIT:C7644]
synonym: "adamantinoma of long bone" RELATED [DOID:2775]
synonym: "adamantinoma of long bones" EXACT [DOID:2775, NCIT:C7644, OMIM:102660, Orphanet:55881]
synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [DOID:2775]
synonym: "adamantinoma, malignant" EXACT [NCIT:C7644]
synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644]
synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location]
xref: DOID:2775 {source="MONDO:equivalentTo"}
xref: DOID:2776 {source="MONDO:equivalentTo"}
xref: ICD10:C40.2 {source="ORDO:55881/ntbt", source="ORDO:55881/index", source="Orphanet:55881", source="MONDO:directSiblingOf"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9261/3 {source="NCIT:C7644"}
xref: MESH:C562741 {source="MONDO:equivalentTo", source="DOID:2775", source="MONDO:ontobio"}
xref: MESH:D050398 {source="DOID:2776", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:55881/e", source="Orphanet:55881"}
xref: NCIT:C7644 {source="DOID:2776", source="MONDO:equivalentTo"}
xref: OMIM:102660 {source="MONDO:equivalentTo", source="DOID:2775", source="ORDO:55881/e", source="Orphanet:55881"}
xref: ONCOTREE:ADMA {source="MONDO:equivalentTo"}
xref: Orphanet:55881 {source="OMIM:102660", source="MONDO:equivalentTo"}
xref: SCTID:307609003 {source="MONDO:equivalentTo", source="DOID:2775", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334556 {source="NCBI:mim2gene_medline", source="OMIM:102660", source="MONDO:equivalentTo", source="NCIT:C7644", source="DOID:2775", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1367554 {source="DOID:2776", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="ORDO:55881/e", source="Orphanet:55881"}
is_a: MONDO:0002415 ! bone carcinoma
relationship: excluded_subClassOf MONDO:0015959 {source="Orphanet:55881"} ! obsolete inherited syndrome with bone tumors as a major feature
property_value: closeMatch http://identifiers.org/snomedct/189895006
property_value: closeMatch http://identifiers.org/snomedct/56763007
property_value: exactMatch DOID:2775
property_value: exactMatch DOID:2776
property_value: exactMatch http://identifiers.org/mesh/C562741
property_value: exactMatch http://identifiers.org/mesh/D050398
property_value: exactMatch http://identifiers.org/omim/102660
property_value: exactMatch http://identifiers.org/snomedct/307609003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367554
property_value: exactMatch NCIT:C7644
property_value: exactMatch Orphanet:55881

[Term]
id: MONDO:0002423
name: rectosigmoid junction neoplasm
def: "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C4877]
synonym: "neoplasm of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877]
synonym: "neoplasm of the rectosigmoid junction" EXACT [NCIT:C4877]
synonym: "rectosigmoid junction neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rectosigmoid junction tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "rectosigmoid neoplasm" EXACT [CSP2005:2010-1253, DOID:2780, NCIT:C4877]
synonym: "rectosigmoid tumor" EXACT [DOID:2780, NCIT:C4877]
synonym: "tumor of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877]
synonym: "tumor of the rectosigmoid junction" EXACT [NCIT:C4877]
xref: DOID:2780 {source="MONDO:equivalentTo"}
xref: NCIT:C4877 {source="DOID:2780", source="MONDO:equivalentTo"}
xref: SCTID:126848003 {source="DOID:2780", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345873 {source="DOID:2780", source="MONDO:equivalentTo", source="NCIT:C4877"}
is_a: MONDO:0006971 {source="DOID:2780", source="MONDOLEX:0002423", source="linkedlifedata"} ! sigmoid neoplasm
relationship: excluded_subClassOf MONDO:0002165 {source="DOID:2780", source="linkedlifedata"} ! rectal neoplasm
property_value: exactMatch DOID:2780
property_value: exactMatch http://identifiers.org/snomedct/126848003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345873
property_value: exactMatch NCIT:C4877

[Term]
id: MONDO:0002424
name: rectosigmoid carcinoma
def: "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." [NCIT:C7421]
synonym: "carcinoma of rectosigmoid junction" EXACT [MONDO:patterns/carcinoma]
synonym: "rectosigmoid cancer" EXACT [NCIT:C7421]
synonym: "rectosigmoid carcinoma" EXACT [NCIT:C7421]
synonym: "rectosigmoid junction carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2781 {source="MONDO:equivalentTo"}
xref: NCIT:C7421 {source="DOID:2781", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1327709 {source="DOID:2781", source="NCIT:C7421", source="MONDO:equivalentTo"}
is_a: MONDO:0002032 ! colon carcinoma
is_a: MONDO:0002425 {source="DOID:2781", source="MONDO:Redundant", source="NCIT:C7421"} ! rectosigmoid junction cancer
is_a: MONDO:0044937 ! rectal carcinoma
property_value: exactMatch DOID:2781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327709
property_value: exactMatch NCIT:C7421

[Term]
id: MONDO:0002425
name: rectosigmoid junction cancer
def: "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7420]
synonym: "cancer of rectosigmoid junction" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of rectosigmoid" EXACT [DOID:2782, MTHICD9_2006:154.0]
synonym: "malignant neoplasm of rectosigmoid junction" EXACT [DOID:2782, ICD9CM_2006:154.0, MONDO:patterns/cancer, NCIT:C7420]
synonym: "malignant neoplasm of the rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "malignant rectosigmoid junction neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant rectosigmoid neoplasm" EXACT [NCIT:C7420]
synonym: "malignant rectosigmoid tumor" EXACT [DOID:2782, NCIT:C7420]
synonym: "malignant tumor of rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "malignant tumor of the rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "rectosigmoid junction cancer" EXACT [MONDO:patterns/location]
xref: COHD:4180792 {source="MONDO:equivalentTo"}
xref: DOID:2782 {source="MONDO:equivalentTo"}
xref: ICD10:C19 {source="DOID:2782", source="MONDO:equivalentTo"}
xref: ICD9:154.0 {source="DOID:2782", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7420 {source="DOID:2782", source="MONDO:equivalentTo"}
xref: SCTID:363414004 {source="DOID:2782", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.75/2.40"}
xref: UMLS:C0153443 {source="NCIT:C7420", source="DOID:2782", source="MONDO:equivalentTo"}
is_a: MONDO:0001464 {source="DOID:2782", source="MONDO:Redundant", source="linkedlifedata"} ! sigmoid colon cancer
is_a: MONDO:0002423 {source="MONDO:Redundant", source="MONDOLEX:0002425", source="NCIT:C7420", source="OWLReasoner:2017", source="linkedlifedata"} ! rectosigmoid junction neoplasm
is_a: MONDO:0006519 {source="MONDO:Entailed", source="linkedlifedata"} ! rectal cancer
property_value: closeMatch http://identifiers.org/snomedct/93980002
property_value: exactMatch DOID:2782
property_value: exactMatch http://identifiers.org/snomedct/363414004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153443
property_value: exactMatch NCIT:C7420

[Term]
id: MONDO:0002426
name: lung sarcoma
def: "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." [NCIT:C4860]
synonym: "lung sarcoma" EXACT [MONDO:patterns/location, NCIT:C4860]
synonym: "pulmonary sarcoma" EXACT [DOID:2784, NCIT:C4860]
synonym: "sarcoma of lung" EXACT [MONDO:patterns/sarcoma, NCIT:C4860]
synonym: "sarcoma of the lung" EXACT [NCIT:C4860]
xref: DOID:2784 {source="MONDO:equivalentTo"}
xref: NCIT:C4860 {source="DOID:2784", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0598790 {source="DOID:2784", source="MONDO:equivalentTo", source="NCIT:C4860"}
is_a: MONDO:0008903 {source="DOID:2784", source="MONDO:Redundant", source="NCIT:C4860"} ! lung cancer
is_a: MONDO:0018078 {source="NCIT:C4860"} ! soft tissue sarcoma
property_value: exactMatch DOID:2784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598790
property_value: exactMatch NCIT:C4860

[Term]
id: MONDO:0002427
name: cerebellar disease
def: "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." [MESH:D002526]
synonym: "cerebellum disease" EXACT [MONDO:patterns/location]
synonym: "cerebellum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cerebellum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cerebellum" EXACT []
synonym: "disorder of cerebellum" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cerebellum" RELATED [MONDO:patterns/location_top]
xref: DOID:2786 {source="MONDO:equivalentTo"}
xref: MESH:D002526 {source="MONDO:equivalentTo", source="DOID:2786", source="MONDO:ontobio"}
xref: SCTID:223176004 {source="MONDO:equivalentTo", source="DOID:2786"}
xref: UMLS:C0007760 {source="MONDO:equivalentTo", source="DOID:2786"}
is_a: MONDO:0005560 {source="DOID:2786", source="MESH:D002526", source="MONDO:Redundant", source="linkedlifedata"} ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/155010002
property_value: closeMatch http://identifiers.org/snomedct/192867005
property_value: closeMatch http://identifiers.org/snomedct/224186005
property_value: closeMatch http://identifiers.org/snomedct/267691001
property_value: closeMatch http://identifiers.org/snomedct/307361005
property_value: closeMatch http://identifiers.org/snomedct/49784007
property_value: exactMatch DOID:2786
property_value: exactMatch http://identifiers.org/mesh/D002526
property_value: exactMatch http://identifiers.org/snomedct/223176004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007760

[Term]
id: MONDO:0002428
name: protozoa infectious disease
def: "An infection that is caused by protozoans." [NCIT:C34953]
synonym: "Mastigophora infectious disease" NARROW [DOID:2789]
synonym: "parasitic protozoa infectious disease" RELATED [DOID:2789]
synonym: "protozoal infection" EXACT [NCIT:C34953]
synonym: "sarcomastigophora infectious disease" NARROW [DOID:2789]
xref: DOID:2789 {source="MONDO:equivalentTo"}
xref: ICD10:B50-B64 {source="DOID:2789"}
xref: ICD10:B64 {source="DOID:2789"}
xref: MESH:D011528 {source="MONDO:equivalentTo", source="DOID:2789"}
xref: NCIT:C34953 {source="MONDO:equivalentTo", source="DOID:2789"}
is_a: MONDO:0005135 {source="DOID:2789", source="MESH:D011528", source="NCIT:C34953"} ! parasitic infection
property_value: closeMatch http://identifiers.org/snomedct/187247003
property_value: closeMatch http://identifiers.org/snomedct/187502000
property_value: closeMatch http://identifiers.org/snomedct/187517001
property_value: closeMatch http://identifiers.org/snomedct/240627001
property_value: closeMatch http://identifiers.org/snomedct/367372008
property_value: closeMatch http://identifiers.org/snomedct/89933001
property_value: closeMatch http://identifiers.org/snomedct/95896000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033740
property_value: exactMatch DOID:2789
property_value: exactMatch http://identifiers.org/mesh/D011528
property_value: exactMatch NCIT:C34953

[Term]
id: MONDO:0002429
name: idiopathic interstitial pneumonia
def: "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." [https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia]
subset: ordo_group_of_disorders {source="Orphanet:98300"}
synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [DOID:2797, MTHICD9_2006:516.3]
synonym: "idiopathic fibrosing alveolitis" EXACT [DOID:2797, ICD9CM_2006:516.3]
synonym: "IIp" EXACT [NCIT:C35714]
synonym: "IPF" RELATED [CSP2005:4008-0052, DOID:2797]
synonym: "noninfectious pneumonia" EXACT [https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia]
xref: DOID:2797 {source="MONDO:equivalentTo"}
xref: ICD10:J84.11 {source="DOID:2797"}
xref: ICD10:J84.112 {source="DOID:2797", source="MONDO:superClassOf"}
xref: ICD10:J84.114 {source="DOID:2797"}
xref: MESH:D054988 {source="Orphanet:98300", source="MONDO:equivalentTo", source="ORDO:98300/e"}
xref: NCIT:C35714 {source="MONDO:kboom-pr-0.90/0.79/0.13", source="MONDO:equivalentTo"}
xref: Orphanet:98300 {source="MONDO:equivalentTo"}
xref: SCTID:700249006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.67/0.11"}
xref: UMLS:C2350236 {source="Orphanet:98300", source="MONDO:equivalentTo", source="ORDO:98300/e", source="NCIT:C35714"}
is_a: MONDO:0005249 {source="DOID:2797", source="NCIT:C35714/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia
is_a: MONDO:0017027 {source="Orphanet:98300"} ! primary interstitial lung disease specific to adulthood
property_value: closeMatch http://identifiers.org/snomedct/129459004
property_value: closeMatch http://identifiers.org/snomedct/155624004
property_value: closeMatch http://identifiers.org/snomedct/196123009
property_value: closeMatch http://identifiers.org/snomedct/196126001
property_value: closeMatch http://identifiers.org/snomedct/233721005
property_value: closeMatch http://identifiers.org/snomedct/266410004
property_value: closeMatch http://identifiers.org/snomedct/45157009
property_value: closeMatch http://identifiers.org/snomedct/700250006
property_value: exactMatch DOID:2797
property_value: exactMatch http://identifiers.org/mesh/D054988
property_value: exactMatch http://identifiers.org/snomedct/700249006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2350236
property_value: exactMatch NCIT:C35714
property_value: exactMatch Orphanet:98300

[Term]
id: MONDO:0002430
name: obsolete acute interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0019203

[Term]
id: MONDO:0002431
name: obsolete nonspecific interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0019622

[Term]
id: MONDO:0002432
name: malignant neoplasm of acoustic nerve
def: "A malignant neoplasm involving the vestibulocochlear nerve." [MONDO:DesignPattern]
synonym: "cancer of the vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "cancer of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer]
synonym: "malignant acoustic nerve neoplasm" EXACT [NCIT:C4539]
synonym: "malignant acoustic nerve tumor" EXACT [NCIT:C4539]
synonym: "malignant eighth cranial nerve neoplasm" EXACT [NCIT:C4539]
synonym: "malignant eighth cranial nerve tumor" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer, NCIT:C4539]
synonym: "malignant tumor of acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of acoustic vestibular nerve" EXACT [DOID:2814]
synonym: "malignant tumor of eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the vestibulocochlear nerve" EXACT [DOID:2814, NCIT:C4539]
synonym: "malignant tumor of vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "malignant tumour of acoustic vestibular nerve" EXACT [DOID:2814]
synonym: "malignant vestibulocochlear nerve neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant vestibulocochlear nerve tumor" EXACT [NCIT:C4539]
synonym: "vestibulocochlear nerve cancer" EXACT [MONDO:patterns/location]
xref: DOID:2814 {source="MONDO:equivalentTo"}
xref: ICD10:C72.4 {source="DOID:2814"}
xref: NCIT:C4539 {source="MONDO:equivalentTo", source="DOID:2814", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254980001 {source="MONDO:equivalentTo", source="DOID:2814", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346331 {source="MONDO:equivalentTo", source="DOID:2814", source="NCIT:C4539"}
is_a: MONDO:0002433 {source="DOID:2814", source="MONDO:Redundant", source="NCIT:C4539", source="linkedlifedata"} ! malignant cranial nerve neoplasm
is_a: MONDO:0004532 {source="DOID:2814", source="MONDO:Entailed", source="MONDO:Redundant"} ! auditory system cancer
is_a: MONDO:0021221 {source="MONDO:Redundant", source="MONDOLEX:0002432", source="NCIT:C4539", source="linkedlifedata"} ! vestibulocochlear nerve neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188310002
property_value: closeMatch http://identifiers.org/snomedct/93660000
property_value: exactMatch DOID:2814
property_value: exactMatch http://identifiers.org/snomedct/254980001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346331
property_value: exactMatch NCIT:C4539

[Term]
id: MONDO:0002433
name: malignant cranial nerve neoplasm
def: "Abnormal malignant growth of the cells that comprise the cranial nerve." [NCIT:C3571]
synonym: "cancer of cranial nerve" EXACT [MONDO:patterns/cancer]
synonym: "cranial nerve cancer" EXACT [MONDO:patterns/location]
synonym: "cranial nerve malignant neoplasm" RELATED [DOID:2815]
synonym: "cranial nerve neoplasm, malignant" EXACT [NCIT:C3571]
synonym: "malignant cranial nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3571]
synonym: "malignant cranial nerve tumor" EXACT [NCIT:C3571]
synonym: "malignant neoplasm of cranial nerve" EXACT [DOID:2815, MONDO:patterns/cancer, NCIT:C3571]
synonym: "malignant neoplasm of cranial nerves" EXACT [DOID:2815, ICD9CM_2006:192.0]
synonym: "malignant neoplasm of the cranial nerve" EXACT [NCIT:C3571]
synonym: "malignant tumor of cranial nerve" EXACT [NCIT:C3571]
synonym: "malignant tumor of the cranial nerve" EXACT [DOID:2815, NCIT:C3571]
xref: DOID:2815 {source="MONDO:equivalentTo"}
xref: ICD10:C72.50 {source="DOID:2815"}
xref: ICD9:192.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2815"}
xref: NCIT:C3571 {source="MONDO:equivalentTo", source="DOID:2815"}
xref: SCTID:188307009 {source="MONDO:equivalentTo", source="DOID:2815", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153644 {source="NCIT:C3571", source="MONDO:equivalentTo", source="DOID:2815"}
is_a: MONDO:0002633 {source="DOID:2815", source="MONDO:Redundant", source="NCIT:C3571", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0005627 ! head and neck cancer
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: closeMatch http://identifiers.org/snomedct/188311003
property_value: closeMatch http://identifiers.org/snomedct/93767009
property_value: exactMatch DOID:2815
property_value: exactMatch http://identifiers.org/snomedct/188307009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153644
property_value: exactMatch NCIT:C3571

[Term]
id: MONDO:0002434
name: oculomotor nerve cancer
def: "A cancer involving a oculomotor nerve." [MONDO:patterns/cancer]
synonym: "cancer of oculomotor nerve" EXACT [MONDO:patterns/cancer]
synonym: "IIIrd cranial nerve neoplasm, malignant" EXACT [DOID:2816, NCIT:C6995]
synonym: "malignant neoplasm of oculomotor nerve" EXACT [MONDO:patterns/cancer]
synonym: "malignant oculomotor nerve neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant oculomotor nerve tumor" RELATED [DOID:2816]
synonym: "oculomotor nerve cancer" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve neoplasm, malignant" EXACT [NCIT:C6995]
synonym: "primary malignant neoplasm of oculomotor nerve" EXACT [DOID:2816]
xref: DOID:2816 {source="MONDO:equivalentTo"}
xref: NCIT:C6995 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2816"}
xref: SCTID:93929003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2816"}
xref: UMLS:C0686417 {source="MONDO:equivalentTo", source="NCIT:C6995", source="DOID:2816"}
is_a: MONDO:0002433 {source="DOID:2816/inferred", source="MONDO:Redundant", source="MONDOLEX:0002434", source="NCIT:C6995", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant cranial nerve neoplasm
is_a: MONDO:0002435 {source="DOID:2816", source="MONDO:Redundant", source="MONDOLEX:0002434", source="NCIT:C6995", source="linkedlifedata"} ! oculomotor nerve neoplasm
property_value: exactMatch DOID:2816
property_value: exactMatch http://identifiers.org/snomedct/93929003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686417
property_value: exactMatch NCIT:C6995

[Term]
id: MONDO:0002435
name: oculomotor nerve neoplasm
def: "A neoplasm involving a oculomotor nerve." [MONDO:patterns/neoplasm]
synonym: "cranial nerve III tumor" RELATED [DOID:2817]
synonym: "IIIrd cranial nerve tumor" EXACT [NCIT:C6994]
synonym: "neoplasm of oculomotor nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "oculomotor nerve neoplasm" EXACT [NCIT:C6994]
synonym: "oculomotor nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve tumor" EXACT [DOID:2817, MONDO:patterns/neoplasm, NCIT:C6994]
synonym: "tumor of oculomotor nerve" EXACT [MONDO:patterns/neoplasm]
xref: DOID:2817 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6994 {source="MONDO:equivalentTo", source="DOID:2817", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:126969002 {source="MONDO:equivalentTo", source="DOID:2817", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263895 {source="MONDO:equivalentTo", source="NCIT:C6994", source="DOID:2817"}
is_a: MONDO:0002633 {source="DOID:2817/inferred", source="MONDO:Redundant", source="NCIT:C6994", source="OWLReasoner:2017", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0003546 {source="DOID:2817", source="MONDO:Redundant", source="NCIT:C6994", source="linkedlifedata"} ! third cranial nerve disease
property_value: exactMatch DOID:2817
property_value: exactMatch http://identifiers.org/snomedct/126969002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263895
property_value: exactMatch NCIT:C6994

[Term]
id: MONDO:0002436
name: nasal disorder
def: "A disease involving the nose." [MONDO:DesignPattern]
synonym: "disease of nose" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nose" EXACT []
synonym: "disorder of nose" EXACT [MONDO:patterns/location_top]
synonym: "disorder of nose" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the nose" EXACT [DOID:2825]
synonym: "nasal disorder" EXACT [CSP2005:1997-0936, DOID:2825]
synonym: "nose disease" EXACT [https://orcid.org/0000-0002-0736-9199, MONDO:patterns/location]
synonym: "nose disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:4229909 {source="MONDO:equivalentTo"}
xref: DOID:2825 {source="MONDO:equivalentTo"}
xref: ICD9:478.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009668 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2825"}
xref: SCTID:89488007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.95", source="DOID:2825"}
xref: UMLS:C0028432 {source="MONDO:equivalentTo", source="DOID:2825"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0002-0736-9199"} ! otorhinolaryngologic disease
is_a: MONDO:0044987 ! face disease
relationship: excluded_subClassOf MONDO:0004867 {source="DOID:2825"} ! upper respiratory tract disease
property_value: exactMatch DOID:2825
property_value: exactMatch http://identifiers.org/mesh/D009668
property_value: exactMatch http://identifiers.org/snomedct/89488007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028432

[Term]
id: MONDO:0002437
name: dehydration polycythemia
def: "Polycythemia resulting from dehydration." [NCIT:P378]
xref: DOID:2833 {source="MONDO:equivalentTo"}
xref: NCIT:C27310 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:2833"}
xref: UMLS:C0856815 {source="NCIT:C27310", source="MONDO:equivalentTo", source="DOID:2833"}
is_a: MONDO:0016541 ! acquired secondary polycythemia
property_value: exactMatch DOID:2833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856815
property_value: exactMatch NCIT:C27310

[Term]
id: MONDO:0002438
name: acquired polycythemia
def: "An instance of polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired polycythemia" EXACT [MONDO:patterns/acquired]
synonym: "acquired polycythemia (disease)" EXACT [MONDO:patterns/acquired]
synonym: "polycythemia, secondary" RELATED [DOID:2834]
synonym: "secondary polycythemia" EXACT EXCLUDE [DOID:2834]
xref: DOID:2834 {source="MONDO:equivalentTo"}
xref: ICD10:D75.1 {source="DOID:2834"}
xref: ICD9:289.0 {source="DOID:2834"}
is_a: MONDO:0005571 {source="DOID:2834", source="MONDO:Entailed", source="MONDO:Redundant"} ! polycythemia (disease)
intersection_of: MONDO:0005571 ! polycythemia (disease)
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://identifiers.org/snomedct/154835002
property_value: closeMatch http://identifiers.org/snomedct/191374009
property_value: closeMatch http://identifiers.org/snomedct/44865000
property_value: exactMatch DOID:2834

[Term]
id: MONDO:0002439
name: obsolete stress polycythemia
is_obsolete: true
replaced_by: MONDO:0019538

[Term]
id: MONDO:0002440
name: erythropoietin polycythemia
def: "Polycythemia that is caused by excess erythropoietin." [NCIT:P378]
synonym: "nephrogenous polycythemia" EXACT [DOID:2839]
synonym: "polycythaemia due to Excess erythropoetin production" EXACT [DOID:2839, NCIT:C35434]
synonym: "polycythemia due to excess erythopoetin production" EXACT [DOID:2839, MTH:NOCODE]
synonym: "polycythemia, nephrogenous" EXACT [DOID:2839, MTHICD9_2006:289.0]
synonym: "secondary polycythemia with excess erythropoietin" EXACT [DOID:2839]
xref: DOID:2839 {source="MONDO:equivalentTo"}
xref: ICD10:D75.1 {source="DOID:2839"}
xref: NCIT:C35434 {source="MONDO:equivalentTo", source="DOID:2839", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:367328005 {source="MONDO:equivalentTo", source="DOID:2839", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0391869 {source="MONDO:equivalentTo", source="NCIT:C35434", source="DOID:2839"}
is_a: MONDO:0016541 ! acquired secondary polycythemia
property_value: closeMatch http://identifiers.org/snomedct/43918003
property_value: exactMatch DOID:2839
property_value: exactMatch http://identifiers.org/snomedct/367328005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391869
property_value: exactMatch NCIT:C35434

[Term]
id: MONDO:0002441
name: Jervell-Lange Nielsen syndrome
def: "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." [NCIT:P378]
subset: gard_rare
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [GARD:0003048]
synonym: "deafness, congenital, and functional heart disease" RELATED [GARD:0003048]
synonym: "Jervell and Lange-Nielson syndrome" EXACT [DOID:2842]
synonym: "Jervell Lange-Nielsen syndrome" RELATED [GARD:0003048]
synonym: "JLNS1" RELATED [GARD:0003048]
synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048]
synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048]
xref: DOID:2842 {source="MONDO:equivalentTo"}
xref: GARD:0003048 {source="MONDO:equivalentTo"}
xref: MESH:D029593 {source="DOID:2842", source="MONDO:equivalentTo"}
is_a: MONDO:0002442 {source="DOID:2842", source="MESH:D029593"} ! long QT syndrome
property_value: closeMatch http://identifiers.org/snomedct/49518001
property_value: exactMatch DOID:2842
property_value: exactMatch http://identifiers.org/mesh/D029593
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome xsd:anyURI {source="GARD:0003048"}

[Term]
id: MONDO:0002442
name: long QT syndrome
def: "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome and Jervell-Lange Nielsen syndrome." [MESH:D008133]
synonym: "long Q-T syndrome" EXACT [DOID:2843]
synonym: "LQT" EXACT [CSP2005:4009-0053, DOID:2843]
synonym: "Romano-Ward syndrome" EXACT [DOID:2843]
synonym: "ventricular arrhythmia associated with long QT syndrome" EXACT [NCIT:C34786]
xref: COHD:314664 {source="MONDO:equivalentTo"}
xref: DOID:2843 {source="MONDO:equivalentTo"}
xref: ICD10:I45.81 {source="MONDO:equivalentTo", source="DOID:2843"}
xref: ICD9:426.82 {source="DOID:2843"}
xref: MESH:D008133 {source="MONDO:equivalentTo", source="DOID:2843"}
xref: NCIT:C34786 {source="MONDO:kboom-pr-0.96/0.70/2.55", source="MONDO:equivalentTo", source="DOID:2843"}
xref: UMLS:C0023976 {source="MONDO:equivalentTo", source="DOID:2843", source="NCIT:C34786"}
is_a: MONDO:0002254 {source="MONDOLEX:0002442", source="NCIT:C34786"} ! syndromic disease
is_a: MONDO:0005453 {source="MESH:D008133"} ! congenital heart disease
relationship: disease_has_feature MONDO:0005478 ! torsades de pointes
relationship: excluded_subClassOf MONDO:0000591 {source="DOID:2843"} ! intrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/395649008
property_value: closeMatch http://identifiers.org/snomedct/9651007
property_value: exactMatch DOID:2843
property_value: exactMatch http://identifiers.org/mesh/D008133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023976
property_value: exactMatch NCIT:C34786

[Term]
id: MONDO:0002443
name: bruxism (disease)
def: "Excessive clenching of the jaw and grinding of the teeth." [NCIT:P378]
synonym: "bruxism" EXACT [MONDO:ambiguous]
synonym: "bruxism - teeth grinding" EXACT [DOID:2846]
synonym: "grinding teeth" EXACT [DOID:2846]
synonym: "sleep related bruxism" EXACT [DOID:2846]
synonym: "teeth grinding" EXACT [DOID:2846, MTHICD9_2006:306.8]
xref: DOID:2846 {source="MONDO:equivalentTo"}
xref: HP:0003763 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F45.8 {source="DOID:2846"}
xref: ICD10:G47.63 {source="DOID:2846"}
xref: ICD9:327.53 {source="DOID:2846"}
is_a: MONDO:0003406 {source="DOID:2846"} ! sleep-wake disorder
property_value: closeMatch http://identifiers.org/mesh/D002012
property_value: closeMatch http://identifiers.org/mesh/D020186
property_value: closeMatch http://identifiers.org/snomedct/154925009
property_value: closeMatch http://identifiers.org/snomedct/191983006
property_value: closeMatch http://identifiers.org/snomedct/192436003
property_value: closeMatch http://identifiers.org/snomedct/268774006
property_value: closeMatch http://identifiers.org/snomedct/274950005
property_value: closeMatch http://identifiers.org/snomedct/367105000
property_value: closeMatch http://identifiers.org/snomedct/90207007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006325
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393774
property_value: exactMatch DOID:2846
property_value: exactMatch NCIT:C73511

[Term]
id: MONDO:0002444
name: melancholia
def: "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." [NCIT:P378]
synonym: "depression with melancholic features" EXACT [NCIT:C34812]
synonym: "melancholic depression" EXACT [NCIT:C34812]
xref: DOID:2848 {source="MONDO:equivalentTo"}
xref: NCIT:C34812 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2848"}
is_a: MONDO:0002050 {source="DOID:2848", source="NCIT:C34812"} ! depressive disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025193
property_value: exactMatch DOID:2848
property_value: exactMatch NCIT:C34812

[Term]
id: MONDO:0002445
name: obsolete hemoglobin c disease
is_obsolete: true
replaced_by: MONDO:0016242

[Term]
id: MONDO:0002446
name: obsolete hemoglobinopathy
is_obsolete: true
replaced_by: MONDO:0019050

[Term]
id: MONDO:0002447
name: endometrial carcinoma (disease)
def: "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." [NCIT:C7558]
synonym: "carcinoma of endometrium" EXACT [MONDO:patterns/carcinoma, NCIT:C7558]
synonym: "carcinoma of the endometrium" EXACT [DOID:2871, NCIT:C7558]
synonym: "carcinoma, endometrial, malignant" EXACT [NCIT:C7558]
synonym: "endometrial cancer" EXACT [NCIT:C7558]
synonym: "endometrial carcinoma" EXACT [MONDO:ambiguous, NCIT:C7558]
synonym: "endometrioid carcinoma" RELATED EXCLUDE [DOID:2871]
synonym: "endometrioid carcinoma of female reproductive system" RELATED EXCLUDE [DOID:2871, NCIT:C3769]
synonym: "endometrium carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2871 {source="MONDO:equivalentTo"}
xref: HP:0012114 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C7558 {source="DOID:2871", source="MONDO:equivalentTo"}
xref: ONCOTREE:UCEC {source="MONDO:equivalentTo"}
xref: SCTID:254878006 {source="DOID:2871", source="MONDO:equivalentTo"}
xref: UMLS:C0476089 {source="DOID:2871", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="NCIT:C7558"}
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0011962 {source="DOID:2871", source="MONDO:Redundant", source="MONDOLEX:0002447", source="NCIT:C7558"} ! endometrial cancer
property_value: closeMatch http://identifiers.org/mesh/D018269
property_value: closeMatch http://identifiers.org/snomedct/154526001
property_value: closeMatch http://identifiers.org/snomedct/269600001
property_value: closeMatch http://identifiers.org/snomedct/30289006
property_value: closeMatch http://identifiers.org/snomedct/93781006
property_value: exactMatch DOID:2871
property_value: exactMatch http://identifiers.org/snomedct/254878006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476089
property_value: exactMatch NCIT:C7558

[Term]
id: MONDO:0002448
name: laryngeal sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the larynx." [NCIT:C6020]
synonym: "laryngeal sarcoma" EXACT [NCIT:C6020]
synonym: "larynx sarcoma" EXACT [MONDO:patterns/location, NCIT:C6020]
synonym: "sarcoma of larynx" EXACT [DOID:2877, MONDO:patterns/sarcoma, NCIT:C6020]
synonym: "sarcoma of the larynx" EXACT [NCIT:C6020]
xref: DOID:2877 {source="MONDO:equivalentTo"}
xref: NCIT:C6020 {source="MONDO:equivalentTo", source="DOID:2877"}
xref: UMLS:C1334377 {source="NCIT:C6020", source="MONDO:equivalentTo", source="DOID:2877"}
is_a: MONDO:0002352 {source="DOID:2877", source="MONDO:Redundant", source="NCIT:C6020"} ! larynx cancer
is_a: MONDO:0018078 {source="NCIT:C6020"} ! soft tissue sarcoma
property_value: exactMatch DOID:2877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334377
property_value: exactMatch NCIT:C6020

[Term]
id: MONDO:0002449
name: nodular degeneration of cornea
xref: COHD:381296 {source="MONDO:equivalentTo"}
xref: DOID:2879 {source="MONDO:equivalentTo"}
xref: ICD10:H18.45 {source="DOID:2879"}
xref: ICD9:371.46 {source="MONDO:equivalentTo", source="i2s", source="DOID:2879"}
xref: SCTID:72620002 {source="MONDO:equivalentTo", source="DOID:2879", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155122 {source="MONDO:equivalentTo", source="DOID:2879"}
is_a: MONDO:0001515 {source="DOID:2879", source="linkedlifedata"} ! corneal degeneration
property_value: exactMatch DOID:2879
property_value: exactMatch http://identifiers.org/snomedct/72620002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155122

[Term]
id: MONDO:0002450
name: prostatic adenoma
def: "Focal benign glandular hyperplasia in the prostate gland." [NCIT:P378]
synonym: "adenoma - prostate" EXACT [DOID:2883]
synonym: "adenoma of prostate" EXACT [DOID:2883, MTHICD9_2006:600.2, NCIT:C4795]
synonym: "adenoma of the prostate" EXACT [NCIT:C4795]
synonym: "benign adenoma of prostate" EXACT [DOID:2883]
synonym: "prostate adenoma" EXACT [DOID:2883, NCIT:C4795]
synonym: "prostate gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:2883 {source="MONDO:equivalentTo"}
xref: ICD9:600.20 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4795 {source="DOID:2883", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:21173002 {source="DOID:2883", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.09"}
xref: UMLS:C0520477 {source="DOID:2883", source="MONDO:equivalentTo", source="NCIT:C4795"}
is_a: MONDO:0004972 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795", source="linkedlifedata"} ! adenoma
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C4795", source="linkedlifedata"} ! benign neoplasm of prostate
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/155906003
property_value: closeMatch http://identifiers.org/snomedct/197957005
property_value: closeMatch http://identifiers.org/snomedct/270536001
property_value: exactMatch DOID:2883
property_value: exactMatch http://identifiers.org/snomedct/21173002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520477
property_value: exactMatch NCIT:C4795

[Term]
id: MONDO:0002451
name: benign prostate phyllodes tumor
def: "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." [NCIT:C5532]
synonym: "benign phyllodes neoplasm of prostate" EXACT [NCIT:C5532]
synonym: "benign phyllodes neoplasm of the prostate" EXACT [DOID:2885, NCIT:C5532]
synonym: "benign phyllodes tumor of prostate" EXACT [NCIT:C5532]
synonym: "benign phyllodes tumor of the prostate" EXACT [NCIT:C5532]
synonym: "benign prostate phyllodes neoplasm" EXACT [NCIT:C5532]
synonym: "benign prostate phyllodes tumor" EXACT [NCIT:C5532]
synonym: "phyllodes neoplasm of the prostate" BROAD [DOID:2885, NCIT:C7574]
synonym: "prostate phyllodes tumor" BROAD [DOID:2885]
synonym: "prostate phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
xref: DOID:2885 {source="MONDO:equivalentTo"}
xref: NCIT:C5532 {source="MONDO:equivalentTo", source="DOID:2885"}
xref: UMLS:C1332535 {source="MONDO:equivalentTo", source="NCIT:C5532", source="DOID:2885"}
is_a: MONDO:0004180 ! benign urinary system neoplasm
is_a: MONDO:0021102 {source="MONDO:Redundant", source="MONDOLEX:0002451", source="NCIT:C5532"} ! prostate phyllodes tumor
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C5532"} ! benign neoplasm of prostate
is_a: MONDO:0037002 {source="MONDO:Redundant", source="MONDOLEX:0002451", source="NCIT:C5532"} ! benign phyllodes tumor
property_value: exactMatch DOID:2885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332535
property_value: exactMatch NCIT:C5532

[Term]
id: MONDO:0002452
name: prostate leiomyoma
def: "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5544]
synonym: "leiomyoma of prostate" EXACT [NCIT:C5544]
synonym: "leiomyoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "leiomyoma of the prostate" EXACT [NCIT:C5544]
synonym: "prostate gland leiomyoma" EXACT [MONDO:patterns/location]
synonym: "prostate leiomyoma" EXACT [NCIT:C5544]
synonym: "prostatic leiomyoma" EXACT [DOID:2887, NCIT:C5544]
xref: DOID:2887 {source="MONDO:equivalentTo"}
xref: NCIT:C5544 {source="MONDO:equivalentTo", source="DOID:2887", source="exact-label-match"}
xref: UMLS:C1335510 {source="MONDO:equivalentTo", source="DOID:2887", source="NCIT:C5544"}
is_a: MONDO:0001572 {source="DOID:2887", source="MONDO:Redundant", source="NCIT:C5544"} ! leiomyoma
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C5544"} ! benign neoplasm of prostate
property_value: exactMatch DOID:2887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335510
property_value: exactMatch NCIT:C5544

[Term]
id: MONDO:0002453
name: retrocochlear disease
def: "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." [MESH:D012181]
xref: DOID:2889 {source="MONDO:equivalentTo"}
xref: MESH:D012181 {source="MONDO:equivalentTo", source="DOID:2889", source="MONDO:ontobio"}
xref: UMLS:C0035352 {source="MONDO:equivalentTo", source="DOID:2889"}
is_a: MONDO:0002409 {source="DOID:2889"} ! auditory system disease
property_value: exactMatch DOID:2889
property_value: exactMatch http://identifiers.org/mesh/D012181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035352

[Term]
id: MONDO:0002454
name: thyroid adenoma (disease)
def: "A adenoma that involves the thyroid gland." [MONDO:patterns/location]
comment: Editor note: consider merging with follicular thyroid adenoma
synonym: "adenoma of thyroid gland" EXACT [DOID:2891]
synonym: "thyroid adenoma" EXACT [MONDO:ambiguous]
synonym: "thyroid gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:2891 {source="MONDO:equivalentTo"}
xref: HP:0000854 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:255033000 {source="DOID:2891", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.62"}
xref: UMLS:C0151468 {source="DOID:2891", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="DOID:2891", source="MONDO:Redundant", source="linkedlifedata"} ! adenoma
is_a: MONDO:0015074 ! thyroid tumor
property_value: closeMatch http://identifiers.org/mesh/D013964
property_value: closeMatch http://identifiers.org/snomedct/154623004
property_value: closeMatch http://identifiers.org/snomedct/189174004
property_value: closeMatch http://identifiers.org/snomedct/269644003
property_value: exactMatch DOID:2891
property_value: exactMatch http://identifiers.org/snomedct/255033000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151468

[Term]
id: MONDO:0002455
name: exocervical carcinoma
def: "A carcinoma that arises from the squamous epithelium of the exocervix." [NCIT:C7453]
synonym: "carcinoma of ectocervix" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of exocervix" EXACT [DOID:2892, NCIT:C7453]
synonym: "carcinoma of the exocervix" EXACT [DOID:2892, NCIT:C7453]
synonym: "ectocervix carcinoma" EXACT [MONDO:patterns/location]
synonym: "exocervical cancer" EXACT [NCIT:C7453]
synonym: "exocervical carcinoma" EXACT [NCIT:C7453]
synonym: "exocervix carcinoma" EXACT [NCIT:C7453]
xref: DOID:2892 {source="MONDO:equivalentTo"}
xref: NCIT:C7453 {source="DOID:2892", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:372100004 {source="DOID:2892", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1299238 {source="NCIT:C7453", source="DOID:2892", source="MONDO:equivalentTo"}
is_a: MONDO:0005131 {source="DOID:2892", source="MONDO:Redundant", source="MONDOLEX:0002455", source="NCIT:C7453", source="linkedlifedata"} ! cervical carcinoma
property_value: exactMatch DOID:2892
property_value: exactMatch http://identifiers.org/snomedct/372100004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299238
property_value: exactMatch NCIT:C7453

[Term]
id: MONDO:0002456
name: obsolete cervix carcinoma
is_obsolete: true
replaced_by: MONDO:0005131

[Term]
id: MONDO:0002457
name: Treacher-Collins syndrome
def: "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." [Orphanet:861]
subset: ordo_malformation_syndrome {source="Orphanet:861"}
subset: prototype_pattern
synonym: "Franceschetti syndrome" EXACT [DOID:2908]
synonym: "Franceschetti-Klein syndrome" EXACT [Orphanet:861]
synonym: "mandibulofacial dysostosis" EXACT EXCLUDE [DOID:2908]
synonym: "mandibulofacial dysostosis without limb anomalies" EXACT [Orphanet:861]
synonym: "MFD1" RELATED [GARD:0009124]
synonym: "TCOF" RELATED [GARD:0009124]
synonym: "TCS" RELATED [GARD:0009124]
synonym: "Treacher Collins syndrome" RELATED [DOID:2908]
xref: DOID:2908 {source="MONDO:equivalentTo"}
xref: GARD:0009124 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.4 {source="ORDO:861/inclusion", source="DOID:2908", source="ORDO:861/ntbt", source="Orphanet:861"}
xref: MedDRA:10051456 {source="ORDO:861/e", source="Orphanet:861"}
xref: NCIT:C75018 {source="DOID:2908", source="MONDO:kboom-pr-0.92/0.68/1.66", source="MONDO:equivalentTo"}
xref: OMIMPS:154500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:861 {source="MONDO:equivalentTo", source="OMIM:154500"}
xref: SCTID:62767009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.43"}
xref: UMLS:C0265241 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:861/e", source="Orphanet:861"}
is_a: MONDO:0000426 {source="DOID:2908", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015218 {source="Orphanet:861"} ! syndromic developmental defect of the eye
is_a: MONDO:0015321 {source="Orphanet:861"} ! Pierre Robin syndrome associated with branchial archs anomalies
is_a: MONDO:0015334 {source="Orphanet:861"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015483 {source="Orphanet:861"} ! mandibulofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:861"} ! syndromic genetic deafness
is_a: MONDO:0019710 {source="Orphanet:861", source="Orphanet:861/inferred"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0020157 {source="Orphanet:861"} ! syndromic palpebral coloboma
is_a: MONDO:0020167 {source="Orphanet:861"} ! malposition of external canthus
is_a: MONDO:0020169 {source="Orphanet:861"} ! rare disorder with ptosis
is_a: MONDO:0020253 {source="Orphanet:861"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:861"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:861"} ! obsolete eyebrow/eyelashes distichiasis
property_value: closeMatch http://identifiers.org/snomedct/205416009
property_value: closeMatch http://identifiers.org/snomedct/205804007
property_value: closeMatch http://identifiers.org/snomedct/82203000
property_value: exactMatch DOID:2908
property_value: exactMatch http://identifiers.org/meddra/10051456
property_value: exactMatch http://identifiers.org/snomedct/62767009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265241
property_value: exactMatch NCIT:C75018
property_value: exactMatch Orphanet:861

[Term]
id: MONDO:0002458
name: obsolete acute pancreatitis
is_obsolete: true
replaced_by: MONDO:0006515

[Term]
id: MONDO:0002459
name: type IV hypersensitivity disease
def: "A disease that has its basis in the disruption of type IV hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process]
comment: We make this equivalent with the UMLS concept for the reaction
synonym: "delayed hypersensitivity reaction" EXACT [NCIT:C3115]
synonym: "delayed-type hypersensitivity" EXACT [NCIT:C3115]
synonym: "delayed-type hypersensitivity response" EXACT [NCIT:C3115]
synonym: "disorder of type IV hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of type IV hypersensitivity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "DTH" EXACT [NCIT:C3115]
synonym: "hypersensitivity reaction type IV disease" RELATED [DOID:2916]
synonym: "immunoproliferative disease" RELATED [DOID:2916]
synonym: "type 4 hypersensitivity reaction" EXACT [NCIT:C3115]
synonym: "type IV hypersensitivity" EXACT [NCIT:C3115]
synonym: "type IV hypersensitivity reaction" EXACT [NCIT:C3115]
xref: DOID:2916 {source="MONDO:equivalentTo"}
xref: ICD10:C88.9 {source="DOID:2916"}
xref: NCIT:C3115 {source="MONDO:equivalentTo"}
xref: UMLS:C0020522 {source="MONDO:equivalentTo", source="NCIT:C3115"}
is_a: MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/134363002
property_value: closeMatch http://identifiers.org/snomedct/86295000
property_value: exactMatch DOID:2916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020522
property_value: exactMatch NCIT:C3115

[Term]
id: MONDO:0002460
name: lacrimal system cancer
def: "A cancer that involves the lacrimal apparatus." [MONDO:patterns/location]
synonym: "cancer of lacrimal apparatus" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal apparatus cancer" EXACT []
synonym: "lacrimal system neoplasm" EXACT [DOID:292]
synonym: "lacrimal system neoplasms" EXACT [NCIT:C5102]
synonym: "lacrimal system tumor" EXACT [NCIT:C5102]
synonym: "malignant lacrimal apparatus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lacrimal apparatus" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of lacrimal system" EXACT [NCIT:C5102]
synonym: "neoplasm of the lacrimal system" EXACT [NCIT:C5102]
synonym: "tumor of lacrimal system" EXACT [NCIT:C5102]
synonym: "tumor of the lacrimal system" EXACT [DOID:292, NCIT:C5102]
xref: DOID:292 {source="MONDO:equivalentTo"}
xref: NCIT:C5102 {source="MONDO:equivalentTo", source="DOID:292", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:416510003 {source="MONDO:equivalentTo", source="DOID:292", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334361 {source="MONDO:equivalentTo", source="DOID:292", source="NCIT:C5102"}
is_a: MONDO:0001854 ! lacrimal apparatus disease
is_a: MONDO:0002236 ! ocular cancer
relationship: excluded_subClassOf MONDO:0002236 {source="DOID:292"} ! ocular cancer
property_value: exactMatch DOID:292
property_value: exactMatch http://identifiers.org/snomedct/416510003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334361
property_value: exactMatch NCIT:C5102

[Term]
id: MONDO:0002461
name: membranoproliferative glomerulonephritis (disease)
def: "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli." [NCIT:P378]
synonym: "chronic glomerulonephritis, lobular" EXACT [DOID:2920, MTHICD9_2006:582.2]
synonym: "lobular glomerulonephritis" EXACT [DOID:2920]
synonym: "membranoproliferative glomerulonephritis" EXACT [MONDO:ambiguous]
xref: DOID:2920 {source="MONDO:equivalentTo"}
xref: HP:0000793 {source="MONDO:otherHierarchy", source="ontobio"}
is_a: MONDO:0002462 {source="DOID:2920", source="MONDOLEX:0002461"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:2920

[Term]
id: MONDO:0002462
name: glomerulonephritis (disease)
def: "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." [NCIT:P378]
synonym: "bright's disease" RELATED [GARD:0006516]
synonym: "glomerular nephritis" EXACT [NCIT:C26784]
synonym: "glomerulonephritis" EXACT [MONDO:ambiguous]
synonym: "nephritis of renal glomerulus" EXACT [MONDO:design_pattern]
synonym: "renal glomerulus nephritis" EXACT [MONDO:patterns/location]
xref: DOID:2921 {source="MONDO:equivalentTo"}
xref: GARD:0006516 {source="MONDO:equivalentTo"}
xref: HP:0000099 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N05 {source="DOID:2921"}
xref: ICD10:N08 {source="DOID:2921"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005921 {source="MONDO:equivalentTo", source="DOID:2921", source="MONDO:ontobio"}
xref: NCIT:C26784 {source="MONDO:equivalentTo", source="DOID:2921", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:36171008 {source="MONDO:equivalentTo", source="DOID:2921", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0017658 {source="NCIT:C26784", source="MONDO:equivalentTo", source="DOID:2921"}
is_a: MONDO:0001166 {source="DOID:2921", source="MESH:D005921", source="MONDO:Redundant", source="NCIT:C26784", source="OWLReasoner:2017", source="linkedlifedata"} ! nephritis
is_a: MONDO:0019722 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! glomerular disease
relationship: disease_causes_feature MONDO:0001106 ! kidney failure
property_value: closeMatch http://identifiers.org/snomedct/197648001
property_value: exactMatch DOID:2921
property_value: exactMatch http://identifiers.org/mesh/D005921
property_value: exactMatch http://identifiers.org/snomedct/36171008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017658
property_value: exactMatch NCIT:C26784

[Term]
id: MONDO:0002463
name: lacrimal gland carcinoma
def: "A carcinoma that arises from epithelial cells of the lacrimal gland." [MONDO:DesignPattern]
synonym: "carcinoma of lacrimal gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6129]
synonym: "carcinoma of the lacrimal gland" EXACT [DOID:293, NCIT:C6129]
synonym: "lacrimal gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6129]
xref: DOID:293 {source="MONDO:equivalentTo"}
xref: NCIT:C6129 {source="DOID:293", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334358 {source="DOID:293", source="MONDO:equivalentTo", source="NCIT:C6129"}
is_a: MONDO:0002464 {source="DOID:293", source="MONDO:Redundant", source="NCIT:C6129"} ! lacrimal gland cancer
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C6129", source="OWLReasoner:2017"} ! eye carcinoma
property_value: exactMatch DOID:293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334358
property_value: exactMatch NCIT:C6129

[Term]
id: MONDO:0002464
name: lacrimal gland cancer
def: "A malignant neoplasm involving the lacrimal gland." [MONDO:DesignPattern]
synonym: "cancer of lacrimal gland" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal gland cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lacrimal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3563]
synonym: "malignant lacrimal gland tumor" EXACT [NCIT:C3563]
synonym: "malignant neoplasm of lacrimal gland" EXACT [DOID:294, MONDO:patterns/cancer, NCIT:C3563]
synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563]
synonym: "malignant tumor of lacrimal gland" EXACT [NCIT:C3563]
synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563]
synonym: "malignant tumour of lacrimal gland" EXACT [DOID:294]
synonym: "neoplasm of lacrimal gland" EXACT EXCLUDE [DOID:294]
synonym: "tumor of the lacrimal gland" EXACT [DOID:294, NCIT:C4360]
xref: COHD:4092530 {source="MONDO:equivalentTo"}
xref: DOID:294 {source="MONDO:equivalentTo"}
xref: ICD9:190.2 {source="DOID:294"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3563 {source="MONDO:equivalentTo", source="DOID:294", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:127004000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.85", source="DOID:294"}
is_a: MONDO:0002460 {source="DOID:294", source="MONDO:Redundant", source="NCIT:C3563/inferred", source="linkedlifedata"} ! lacrimal system cancer
is_a: MONDO:0021222 {source="MONDO:Redundant", source="NCIT:C3563"} ! lacrimal gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188271007
property_value: closeMatch http://identifiers.org/snomedct/188272000
property_value: closeMatch http://identifiers.org/snomedct/93853008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153627
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339124
property_value: exactMatch DOID:294
property_value: exactMatch http://identifiers.org/snomedct/127004000
property_value: exactMatch NCIT:C3563

[Term]
id: MONDO:0002465
name: bronchiolitis (disease)
def: "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." [NCIT:P378]
synonym: "bronchiolitis" EXACT [MONDO:ambiguous]
synonym: "RSV bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619]
synonym: "viral bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619]
synonym: "wheezy bronchitis" EXACT [NCIT:C39658]
xref: DOID:2942 {source="MONDO:equivalentTo"}
xref: HP:0011950 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:466.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001988 {source="MONDO:equivalentTo", source="DOID:2942", source="MONDO:ontobio"}
xref: NCIT:C39658 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2942"}
xref: SCTID:4120002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2942"}
xref: UMLS:C0006271 {source="MONDO:equivalentTo", source="NCIT:C39658", source="DOID:2942"}
is_a: MONDO:0005275 {source="DOID:2942", source="MESH:D001988/inferred", source="NCIT:C39658/inferred"} ! lung disease
property_value: exactMatch DOID:2942
property_value: exactMatch http://identifiers.org/mesh/D001988
property_value: exactMatch http://identifiers.org/snomedct/4120002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006271
property_value: exactMatch NCIT:C39658

[Term]
id: MONDO:0002466
name: eye carcinoma
def: "A carcinoma that arises from epithelial cells of the eye" [MONDO:DesignPattern]
synonym: "carcinoma of eye" EXACT [DOID:295, MONDO:patterns/carcinoma, NCIT:C6079]
synonym: "carcinoma of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the eye" EXACT [NCIT:C6079]
synonym: "eye carcinoma" EXACT [MONDO:patterns/location, NCIT:C6079]
synonym: "eyeball of camera-type eye carcinoma" EXACT []
synonym: "ocular carcinoma" EXACT [DOID:295, NCIT:C6079]
xref: DOID:295 {source="MONDO:equivalentTo"}
xref: NCIT:C6079 {source="MONDO:equivalentTo", source="DOID:295", source="exact-label-match"}
xref: UMLS:C0848866 {source="NCIT:C6079", source="MONDO:equivalentTo", source="DOID:295"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0002236 {source="DOID:295", source="MONDO:Redundant", source="NCIT:C6079"} ! ocular cancer
property_value: exactMatch DOID:295
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848866
property_value: exactMatch NCIT:C6079

[Term]
id: MONDO:0002467
name: inner ear disease
def: "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." [NCIT:C27166]
synonym: "disease of internal ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of internal ear" EXACT []
synonym: "disorder of internal ear" EXACT [MONDO:patterns/location_top]
synonym: "disorder of internal ear" RELATED [MONDO:patterns/location_top]
synonym: "inner Ear disorder" EXACT [NCIT:C27166]
synonym: "internal ear disease" EXACT [MONDO:patterns/location]
synonym: "internal ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "internal Ear disorder" EXACT [NCIT:C27166]
synonym: "labyrinthine disease" EXACT [DOID:2952]
synonym: "vestibular disorder" NARROW [NCIT:C27166]
xref: DOID:2952 {source="MONDO:equivalentTo"}
xref: ICD10:H80-H83 {source="DOID:2952"}
xref: ICD10:H80.H83 {source="MONDO:equivalentTo"}
xref: ICD10:H83.9 {source="DOID:2952"}
xref: ICD10:H83.90 {source="DOID:2952"}
xref: MESH:D007759 {source="DOID:2952", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27166 {source="DOID:2952", source="MONDO:equivalentTo"}
xref: SCTID:232297009 {source="DOID:2952", source="MONDO:equivalentTo"}
is_a: MONDO:0002409 {source="DOID:2952", source="linkedlifedata/inferred"} ! auditory system disease
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27166", source="linkedlifedata"} ! disease of ear
property_value: closeMatch http://identifiers.org/snomedct/194690003
property_value: closeMatch http://identifiers.org/snomedct/20425006
property_value: closeMatch http://identifiers.org/snomedct/267761002
property_value: closeMatch http://identifiers.org/snomedct/267763004
property_value: closeMatch http://identifiers.org/snomedct/286945007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022890
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0494559
property_value: exactMatch DOID:2952
property_value: exactMatch http://identifiers.org/mesh/D007759
property_value: exactMatch http://identifiers.org/snomedct/232297009
property_value: exactMatch NCIT:C27166

[Term]
id: MONDO:0002468
name: hyperimmunoglobulin syndrome
synonym: "hyperimmunoglobulin syndrome" EXACT [NCIT:C27579]
xref: DOID:2959 {source="MONDO:equivalentTo"}
xref: NCIT:C27579 {source="MONDO:equivalentTo", source="DOID:2959"}
xref: UMLS:C1334069 {source="MONDO:equivalentTo", source="NCIT:C27579", source="DOID:2959"}
is_a: MONDO:0002211 {source="DOID:2959"} ! B cell deficiency
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: exactMatch DOID:2959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334069
property_value: exactMatch NCIT:C27579

[Term]
id: MONDO:0002469
name: lacrimal gland carcinoma ex pleomorphic adenoma
alt_id: MONDO:0021278
def: "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." [NCIT:C6804]
synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [NCIT:C6804]
synonym: "carcinoma Ex pleomorphic adenoma of the lacrimal gland" EXACT [DOID:296, NCIT:C6804]
synonym: "carcinoma ex pleomorphic adenoma of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "lacrimal gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C6804]
synonym: "lacrimal gland malignant mixed neoplasm" EXACT [MONDO:patterns/location, NCIT:C6804]
synonym: "lacrimal gland malignant mixed tumor" EXACT [NCIT:C6804]
synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [DOID:296, NCIT:C6090, NCIT:C6804]
synonym: "malignant mixed neoplasm of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "malignant mixed tumor of lacrimal gland" EXACT [NCIT:C6804]
synonym: "malignant mixed tumor of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "mixed lacrimal gland cancer" RELATED [DOID:296]
xref: DOID:296 {source="MONDO:equivalentTo"}
xref: NCIT:C6804 {source="MONDO:equivalentTo", source="DOID:296"}
xref: SCTID:254989000 {source="MONDO:equivalentTo", source="DOID:296", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346342 {source="MONDO:equivalentTo", source="DOID:296", source="NCIT:C6804"}
is_a: MONDO:0002463 {source="MONDO:Redundant", source="NCIT:C6804"} ! lacrimal gland carcinoma
is_a: MONDO:0002472 {source="MONDO:Redundant", source="MONDOLEX:0002469", source="NCIT:C6804"} ! carcinoma ex pleomorphic adenoma
property_value: exactMatch DOID:296
property_value: exactMatch http://identifiers.org/snomedct/254989000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346342
property_value: exactMatch NCIT:C6804

[Term]
id: MONDO:0002470
name: photosensitive trichothiodystrophy
def: "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" [https://en.wikipedia.org/wiki/Trichothiodystrophy#Photosensitive_forms]
subset: gard_rare
synonym: "IBIDS syndrome" EXACT [DOID:2960, Orphanet:453]
synonym: "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature" RELATED [GARD:0002944]
synonym: "sulfur-deficient brittle hair syndrome" EXACT [DOID:2960]
synonym: "Tay syndrome" EXACT [DOID:2960]
synonym: "trichothiodystrophy" BROAD [DOID:2960, NCIT:C4924]
synonym: "trichothiodystrophy with congenital ichthyosis" BROAD [DOID:2960]
synonym: "trichothiodystrophy with congenital ichtyosis" RELATED [GARD:0002944]
xref: DOID:2960 {source="MONDO:equivalentTo"}
xref: GARD:0002944 {source="MONDO:equivalentTo"}
xref: Orphanet:453 {source="MONDO:obsoleteEquivalent", source="GARD:0002944"}
xref: UMLS:CN205101 {source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018053 ! trichothiodystrophy
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021190 ! DNA repair disease
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432267
property_value: exactMatch DOID:2960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205101
property_value: exactMatch Orphanet:453

[Term]
id: MONDO:0002471
name: bursitis
def: "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [MESH:D002062]
synonym: "adhesive Capsulitides" RELATED [MESH:D002062]
synonym: "adhesive Capsulitides, shoulder" RELATED [MESH:D002062]
synonym: "adhesive capsulitis" RELATED [MESH:D002062]
synonym: "adhesive capsulitis of the shoulder" RELATED [MESH:D002062]
synonym: "adhesive capsulitis, shoulder" RELATED [MESH:D002062]
synonym: "Bursitides" RELATED [MESH:D002062]
synonym: "Capsulitides" RELATED [MESH:D002062]
synonym: "Capsulitides, adhesive" RELATED [MESH:D002062]
synonym: "Capsulitides, shoulder adhesive" RELATED [MESH:D002062]
synonym: "capsulitis" RELATED [MESH:D002062]
synonym: "capsulitis, adhesive" RELATED [MESH:D002062]
synonym: "capsulitis, shoulder adhesive" RELATED [MESH:D002062]
synonym: "frozen shoulder" RELATED [MESH:D002062]
synonym: "frozen shoulders" RELATED [MESH:D002062]
synonym: "inflammation of synovial bursa" EXACT []
synonym: "shoulder adhesive Capsulitides" RELATED [MESH:D002062]
synonym: "shoulder adhesive capsulitis" RELATED [MESH:D002062]
synonym: "shoulder, frozen" RELATED [MESH:D002062]
synonym: "shoulders, frozen" RELATED [MESH:D002062]
synonym: "synovial bursa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:134453 {source="MONDO:equivalentTo"}
xref: DOID:2965 {source="MONDO:equivalentTo"}
xref: ICD10:M71.9 {source="DOID:2965"}
xref: ICD9:727.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002062 {source="MONDO:equivalentTo", source="DOID:2965"}
xref: NCIT:C94407 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2965"}
xref: SCTID:84017003 {source="MONDO:equivalentTo", source="DOID:2965", source="MONDO:kboom-pr-0.88/0.76/0.11"}
xref: UMLS:C0006444 {source="MONDO:equivalentTo", source="NCIT:C94407", source="DOID:2965"}
is_a: MONDO:0006816 {source="DOID:2965", source="MESH:D002062"} ! arthropathy
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0056802 ! synovial bursa disease
property_value: closeMatch http://identifiers.org/snomedct/156677003
property_value: closeMatch http://identifiers.org/snomedct/156686008
property_value: closeMatch http://identifiers.org/snomedct/202935009
property_value: closeMatch http://identifiers.org/snomedct/268000007
property_value: exactMatch DOID:2965
property_value: exactMatch http://identifiers.org/mesh/D002062
property_value: exactMatch http://identifiers.org/snomedct/84017003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006444
property_value: exactMatch NCIT:C94407

[Term]
id: MONDO:0002472
name: carcinoma ex pleomorphic adenoma
def: "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." [NCIT:C4397]
synonym: "carcinoma ex pleomorphic adenoma" EXACT [NCIT:C4397]
synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:297]
synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297, NCIT:C4397]
xref: ICDO:8941/3 {source="NCIT:C4397"}
xref: NCIT:C4397 {source="MONDO:equivalentTo", source="DOID:297"}
xref: UMLS:C0344460 {source="NCIT:C4397", source="MONDO:equivalentTo", source="DOID:297"}
is_a: MONDO:0002380 ! myoepithelial tumor
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0002472", source="NCIT:C4397", source="NCIT:C4397/inferred"} ! carcinoma
is_a: MONDO:0005853 {source="NCIT:C4397"} ! malignant mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/17264009
property_value: closeMatch http://identifiers.org/snomedct/189811003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344460
property_value: exactMatch NCIT:C4397

[Term]
id: MONDO:0002473
name: cystic kidney disease
def: "A congenital or acquired kidney disorder characterized by the presence of renal cysts." [NCIT:C34750]
synonym: "kidney cyst" EXACT [DOID:2975, MTH:646]
synonym: "renal cyst" EXACT [DOID:2975, NCIT:C3970]
xref: COHD:193016 {source="MONDO:equivalentTo"}
xref: DOID:2975 {source="MONDO:equivalentTo"}
xref: ICD10:Q61 {source="MONDO:equivalentTo"}
xref: MESH:D052177 {source="MONDO:equivalentTo", source="DOID:2975", source="MONDO:ontobio"}
xref: NCIT:C34750 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.21"}
xref: SCTID:722223000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.47/0.20"}
xref: UMLS:C0022679 {source="MONDO:equivalentTo", source="DOID:2975"}
is_a: MONDO:0005240 {source="DOID:2975", source="MESH:D052177", source="MONDO:Redundant", source="NCIT:C34750/inferred", source="linkedlifedata"} ! kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1691228
property_value: exactMatch DOID:2975
property_value: exactMatch http://identifiers.org/mesh/D052177
property_value: exactMatch http://identifiers.org/snomedct/722223000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022679
property_value: exactMatch NCIT:C34750

[Term]
id: MONDO:0002474
name: primary hyperoxaluria
def: "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." [NCIT:P378]
subset: ordo_disease {source="Orphanet:416"}
synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900]
synonym: "primary hyperoxaluria" EXACT [MONDO:0018478]
xref: DOID:2977 {source="MONDO:equivalentTo"}
xref: ICD10:E72.53 {source="DOID:2977"}
xref: ICD10:E74.8 {source="Orphanet:416", source="ORDO:416/inclusion", source="ORDO:416/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10020703 {source="ORDO:416/e", source="Orphanet:416"}
xref: MESH:D006960 {source="MONDO:equivalentTo", source="DOID:2977", source="MONDO:ontobio"}
xref: NCIT:C123158 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2977"}
xref: OMIMPS:259900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:416 {source="MONDO:equivalentTo"}
xref: SCTID:17901006 {source="MONDO:equivalentTo", source="DOID:2977", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020501 {source="Orphanet:416", source="MONDO:equivalentTo", source="DOID:2977", source="NCIT:C123158"}
is_a: MONDO:0017703 {source="Orphanet:416"} ! disorder of glyoxylate metabolism
is_a: MONDO:0019743 {source="Orphanet:416"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/190766003
property_value: closeMatch http://identifiers.org/snomedct/367621000119107
property_value: exactMatch DOID:2977
property_value: exactMatch http://identifiers.org/meddra/10020703
property_value: exactMatch http://identifiers.org/mesh/D006959
property_value: exactMatch http://identifiers.org/mesh/D006960
property_value: exactMatch http://identifiers.org/snomedct/17901006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020501
property_value: exactMatch NCIT:C123158
property_value: exactMatch Orphanet:416

[Term]
id: MONDO:0002475
name: lacrimal gland adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" [MONDO:DesignPattern]
synonym: "adenocarcinoma of lacrimal gland" EXACT [DOID:298, NCIT:C4541]
synonym: "adenocarcinoma of the lacrimal gland" EXACT [NCIT:C4541]
synonym: "lacrimal gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4541]
xref: DOID:298 {source="MONDO:equivalentTo"}
xref: NCIT:C4541 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:298"}
xref: SCTID:254988008 {source="MONDO:equivalentTo", source="DOID:298", source="MONDO:kboom-pr-0.96/0.80/1.85"}
xref: UMLS:C0346341 {source="MONDO:equivalentTo", source="NCIT:C4541", source="DOID:298"}
is_a: MONDO:0002463 {source="DOID:298", source="MONDO:Redundant", source="NCIT:C4541"} ! lacrimal gland carcinoma
is_a: MONDO:0004970 {source="DOID:298", source="MONDO:Redundant", source="MONDOLEX:0002475", source="NCIT:C4541", source="linkedlifedata/inferred"} ! adenocarcinoma
property_value: exactMatch DOID:298
property_value: exactMatch http://identifiers.org/snomedct/254988008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346341
property_value: exactMatch NCIT:C4541

[Term]
id: MONDO:0002476
name: anuria
def: "Absence of urine output." [NCIT:P378]
synonym: "suppression of urinary secretion" EXACT [DOID:2983, MTHICD9_2006:788.5]
xref: DOID:2983 {source="MONDO:equivalentTo"}
xref: MESH:D001002 {source="DOID:2983", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0003460 {source="DOID:2983", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:2983", source="MESH:D001002"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/139460001
property_value: closeMatch http://identifiers.org/snomedct/158479000
property_value: closeMatch http://identifiers.org/snomedct/207182009
property_value: closeMatch http://identifiers.org/snomedct/2472002
property_value: exactMatch DOID:2983
property_value: exactMatch http://identifiers.org/mesh/D001002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003460
property_value: exactMatch NCIT:C114699

[Term]
id: MONDO:0002477
name: prostate neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." [NCIT:C5545]
synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545]
synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545]
synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545]
synonym: "prostate gland NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "prostate gland neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate neuroendocrine carcinoma" RELATED [ONCOTREE:PRNE]
synonym: "prostate neuroendocrine neoplasm" EXACT [NCIT:C5545]
xref: DOID:2992 {source="MONDO:equivalentTo"}
xref: NCIT:C5545 {source="DOID:2992", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PRNE {source="MONDO:equivalentTo"}
xref: UMLS:C1335515 {source="DOID:2992", source="MONDO:equivalentTo", source="NCIT:C5545"}
is_a: MONDO:0019496 {source="DOID:2992", source="MONDO:Redundant", source="NCIT:C5545"} ! neuroendocrine neoplasm
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C5545", source="ONCOTREE:PRNE"} ! prostate neoplasm
property_value: exactMatch DOID:2992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335515
property_value: exactMatch NCIT:C5545

[Term]
id: MONDO:0002478
name: mixed germ cell-sex cord-stromal tumor
def: "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." [NCIT:C5241]
synonym: "mixed germ cell-Sex cord neoplasm" EXACT [NCIT:C5241]
synonym: "mixed germ cell-Sex cord tumor" EXACT [DOID:2996, NCIT:C5241]
synonym: "mixed germ cell-Sex cord-stromal neoplasm" EXACT [NCIT:C5241]
synonym: "mixed germ cell-Sex cord-stromal tumor" EXACT [NCIT:C5241]
synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [DOID:2996]
xref: DOID:2996 {source="MONDO:equivalentTo"}
xref: NCIT:C5241 {source="DOID:2996", source="MONDO:equivalentTo"}
xref: UMLS:C1321220 {source="NCIT:C5241", source="DOID:2996", source="MONDO:equivalentTo"}
is_a: MONDO:0021043 {source="NCIT:C5241"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/406096006
property_value: closeMatch http://identifiers.org/snomedct/703601005
property_value: exactMatch DOID:2996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321220
property_value: exactMatch NCIT:C5241

[Term]
id: MONDO:0002479
name: Sertoli-Leydig cell tumor
def: "A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens." [MESH:D018310]
xref: DOID:2997 {source="MONDO:equivalentTo"}
xref: GARD:0009967 {source="MONDO:equivalentTo"}
xref: MESH:D018310 {source="MONDO:equivalentTo", source="DOID:2997"}
xref: ONCOTREE:SLCT {source="MONDO:equivalentTo"}
xref: UMLS:C0206723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:2997"}
is_a: MONDO:0003125 {source="DOID:2997"} ! testicular sex cord-stromal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/34110004
property_value: exactMatch DOID:2997
property_value: exactMatch http://identifiers.org/mesh/D018310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206723

[Term]
id: MONDO:0002480
name: endometrioid tumor
def: "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C7113]
synonym: "endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113]
synonym: "endometrioid neoplasm of female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid neoplasm of the female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid tumor" EXACT [NCIT:C7113]
synonym: "endometrioid tumor (morphologic abnormality)" EXACT [DOID:3001]
synonym: "endometrioid tumor of female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid tumor of the female reproductive system" EXACT [NCIT:C7113]
synonym: "female reproductive endometrioid cancer" RELATED [DOID:3001]
synonym: "female reproductive endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113]
synonym: "female reproductive endometrioid tumor" EXACT [NCIT:C7113]
xref: DOID:3001 {source="MONDO:equivalentTo"}
xref: EFO:0009118 {source="MONDO:equivalentTo"}
xref: NCIT:C7113 {source="DOID:3001", source="MONDO:equivalentTo"}
xref: UMLS:C0474809 {source="DOID:3001", source="NCIT:C7113", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="NCIT:C7113"} ! epithelial neoplasm
is_a: MONDO:0021148 {source="MONDOLEX:0002480", source="NCIT:C7113"} ! female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0001416 {source="DOID:3001"} ! female reproductive organ cancer
property_value: closeMatch http://identifiers.org/snomedct/253013001
property_value: exactMatch DOID:3001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474809
property_value: exactMatch NCIT:C7113

[Term]
id: MONDO:0002481
name: ovarian neuroendocrine neoplasm
def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C5237]
synonym: "neuroendocrine neoplasm of ovary" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5237]
synonym: "neuroendocrine neoplasm of the ovary" EXACT [NCIT:C5237]
synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002, NCIT:C5237]
synonym: "ovarian neuroendocrine neoplasm" EXACT [NCIT:C5237]
synonym: "ovary NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "ovary neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: DOID:3002 {source="MONDO:equivalentTo"}
xref: NCIT:C5237 {source="DOID:3002", source="MONDO:equivalentTo"}
xref: UMLS:C1335172 {source="MEDGEN:kboom-pr98-c99", source="DOID:3002", source="MONDO:equivalentTo", source="NCIT:C5237"}
is_a: MONDO:0008170 {source="DOID:3002", source="MONDO:Entailed"} ! ovarian cancer
is_a: MONDO:0019496 {source="DOID:3002", source="MONDO:Redundant", source="NCIT:C5237"} ! neuroendocrine neoplasm
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: exactMatch DOID:3002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335172
property_value: exactMatch NCIT:C5237

[Term]
id: MONDO:0002482
name: nipple neoplasm
def: "A benign or malignant neoplasm that arises in the area of the nipple." [NCIT:C5212]
synonym: "neoplasm of nipple" EXACT [MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "neoplasm of the nipple" EXACT [NCIT:C5212]
synonym: "nipple neoplasm" EXACT [NCIT:C5212]
synonym: "nipple neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nipple tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "tumor of nipple" EXACT [DOID:3003, MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "tumor of the nipple" EXACT [NCIT:C5212]
xref: DOID:3003 {source="MONDO:equivalentTo"}
xref: NCIT:C5212 {source="DOID:3003", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1112166 {source="DOID:3003", source="MONDO:equivalentTo", source="NCIT:C5212"}
is_a: MONDO:0021100 {source="NCIT:C5212"} ! breast neoplasm
property_value: exactMatch DOID:3003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112166
property_value: exactMatch NCIT:C5212

[Term]
id: MONDO:0002483
name: breast myoepithelial tumor
def: "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." [NCIT:C40389]
synonym: "breast myoepithelial neoplasm" EXACT [NCIT:C40389]
synonym: "breast myoepithelial tumor" EXACT [MONDO:patterns/location, NCIT:C40389]
xref: DOID:3004 {source="MONDO:equivalentTo"}
xref: NCIT:C40389 {source="DOID:3004", source="MONDO:equivalentTo"}
xref: UMLS:C1511319 {source="DOID:3004", source="MONDO:equivalentTo", source="NCIT:C40389"}
is_a: MONDO:0002380 {source="DOID:3004", source="MONDO:Redundant", source="MONDOLEX:0002483", source="NCIT:C40389"} ! myoepithelial tumor
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40389/inferred", source="OWLReasoner:2017"} ! breast neoplasm
property_value: exactMatch DOID:3004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511319
property_value: exactMatch NCIT:C40389

[Term]
id: MONDO:0002484
name: obsolete breast ductal carcinoma
is_obsolete: true
replaced_by: MONDO:0005590

[Term]
id: MONDO:0002485
name: breast neuroendocrine neoplasm
def: "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare." [NCIT:C5169]
synonym: "breast endocrine neoplasm" EXACT [NCIT:C5169]
synonym: "breast NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5169]
synonym: "breast neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of breast" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5169]
synonym: "neuroendocrine neoplasm of the breast" EXACT [NCIT:C5169]
synonym: "neuroendocrine tumor of the breast" EXACT [DOID:3009, NCIT:C5169]
xref: DOID:3009 {source="MONDO:equivalentTo"}
xref: NCIT:C5169 {source="MONDO:equivalentTo", source="DOID:3009", source="exact-label-match"}
xref: UMLS:C1332635 {source="MONDO:equivalentTo", source="NCIT:C5169", source="DOID:3009"}
is_a: MONDO:0019496 {source="DOID:3009", source="MONDO:Redundant", source="NCIT:C5169"} ! neuroendocrine neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C5169", source="indirect"} ! breast neoplasm
property_value: exactMatch DOID:3009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332635
property_value: exactMatch NCIT:C5169

[Term]
id: MONDO:0002486
name: lobular neoplasia
def: "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma." [NCIT:C27939]
synonym: "LIN" EXACT [NCIT:C27939]
synonym: "LN" EXACT [NCIT:C27939]
synonym: "lobular carcinoma in situ" EXACT EXCLUDE [DOID:3010]
synonym: "lobular intraepithelial neoplasia" EXACT [DOID:3010, NCIT:C27939]
synonym: "lobular neoplasia" EXACT [NCIT:C27939]
xref: DOID:3010 {source="MONDO:equivalentTo"}
xref: NCIT:C27939 {source="MONDO:equivalentTo", source="DOID:3010"}
xref: UMLS:C0861352 {source="NCIT:C27939", source="MONDO:equivalentTo", source="DOID:3010"}
is_a: MONDO:0004658 {source="DOID:3010"} ! breast carcinoma in situ
property_value: exactMatch DOID:3010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861352
property_value: exactMatch NCIT:C27939

[Term]
id: MONDO:0002487
name: breast granular cell tumor
def: "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." [NCIT:C40400]
synonym: "breast granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C40400]
synonym: "granular cell tumor of breast" EXACT [MONDO:design_pattern]
xref: DOID:3011 {source="MONDO:equivalentTo"}
xref: NCIT:C40400 {source="DOID:3011", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1511312 {source="DOID:3011", source="MONDO:equivalentTo", source="NCIT:C40400"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="MONDOLEX:0002487", source="NCIT:C40400"} ! granular cell tumor
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40400"} ! breast neoplasm
property_value: exactMatch DOID:3011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511312
property_value: exactMatch NCIT:C40400

[Term]
id: MONDO:0002488
name: intraductal breast neoplasm
def: "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." [NCIT:C36083]
synonym: "intraductal breast neoplasm" EXACT [NCIT:C36083]
xref: DOID:3013 {source="MONDO:equivalentTo"}
xref: NCIT:C36083 {source="DOID:3013", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0948967 {source="DOID:3013", source="MONDO:equivalentTo", source="NCIT:C36083"}
is_a: MONDO:0021100 {source="NCIT:C36083"} ! breast neoplasm
property_value: exactMatch DOID:3013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948967
property_value: exactMatch NCIT:C36083

[Term]
id: MONDO:0002489
name: malignant breast phyllodes tumor
def: "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." [NCIT:C4504]
synonym: "breast malignant phyllodes tumor" RELATED [DOID:3016]
synonym: "breast phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant breast phyllodes neoplasm" EXACT [NCIT:C4504]
synonym: "malignant breast phyllodes tumor" EXACT [NCIT:C4504]
synonym: "malignant cystosarcoma phyllodes" RELATED [DOID:3016]
synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" RELATED [DOID:3016]
synonym: "malignant cystosarcoma phyllodes of breast" EXACT [NCIT:C4504]
synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [NCIT:C4504]
synonym: "malignant mammary phyllodes neoplasm" EXACT [NCIT:C4504]
synonym: "malignant mammary phyllodes tumor" EXACT [DOID:3016, NCIT:C4504]
synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504]
synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016]
synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes neoplasm of the breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes tumor" EXACT EXCLUDE [DOID:3016]
synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016]
synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504]
synonym: "phyllodes breast neoplasm" EXACT [DOID:3016]
synonym: "phyllodes breast tumor" EXACT [DOID:3016]
synonym: "phyllodes tumor, malignant" EXACT EXCLUDE [DOID:3016]
synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016]
xref: DOID:3016 {source="MONDO:equivalentTo"}
xref: EFO:0008545 {source="https://github.com/EBISPOT/efo/issues/51", source="MONDO:equivalentTo"}
xref: NCIT:C4504 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MPT {source="MONDO:equivalentTo"}
xref: SCTID:254844000 {source="DOID:3016", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0007254 {source="DOID:3016", source="MONDO:Redundant", source="NCIT:C4504", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast cancer
is_a: MONDO:0021047 {source="MONDO:Redundant", source="MONDOLEX:0002489", source="NCIT:C4504", source="ONCOTREE:MPT", source="linkedlifedata"} ! breast phyllodes tumor
is_a: MONDO:0037003 {source="MONDO:Redundant", source="MONDOLEX:0002489", source="NCIT:C4504"} ! malignant phyllodes tumor
property_value: closeMatch http://identifiers.org/snomedct/134331008
property_value: closeMatch http://identifiers.org/snomedct/189826001
property_value: closeMatch http://identifiers.org/snomedct/87913009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238031
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346154
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0600066
property_value: exactMatch DOID:3016
property_value: exactMatch http://identifiers.org/snomedct/254844000
property_value: exactMatch NCIT:C4504

[Term]
id: MONDO:0002490
name: breast sarcoma
def: "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." [NCIT:C4670]
synonym: "breast sarcoma" EXACT [MONDO:patterns/location, NCIT:C4670]
synonym: "PBS" RELATED [ONCOTREE:PBS]
synonym: "sarcoma of breast" EXACT [MONDO:patterns/sarcoma, NCIT:C4670]
synonym: "sarcoma of the breast" EXACT [NCIT:C4670]
xref: DOID:3017 {source="MONDO:equivalentTo"}
xref: NCIT:C4670 {source="MONDO:equivalentTo", source="DOID:3017", source="exact-label-match"}
xref: ONCOTREE:PBS {source="MONDO:equivalentTo"}
xref: SCTID:278050001 {source="MONDO:equivalentTo", source="DOID:3017", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349667 {source="NCIT:C4670", source="MONDO:equivalentTo", source="DOID:3017"}
is_a: MONDO:0007254 {source="DOID:3017", source="MONDO:Redundant", source="NCIT:C4670", source="indirect", source="linkedlifedata"} ! breast cancer
is_a: MONDO:0018078 {source="NCIT:C4670"} ! soft tissue sarcoma
property_value: exactMatch DOID:3017
property_value: exactMatch http://identifiers.org/snomedct/278050001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349667
property_value: exactMatch NCIT:C4670

[Term]
id: MONDO:0002491
name: substance abuse
def: "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." [NCIT:P378]
xref: COHD:4279309 {source="MONDO:equivalentTo"}
xref: DOID:302 {source="MONDO:equivalentTo"}
xref: ICD9:305.90 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:66214007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002494 {source="DOID:302"} ! substance-related disorder
property_value: closeMatch http://identifiers.org/snomedct/26416006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013146
property_value: exactMatch DOID:302
property_value: exactMatch http://identifiers.org/snomedct/66214007
property_value: exactMatch NCIT:C16522

[Term]
id: MONDO:0002492
name: acute kidney failure
def: "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." [NCIT:C26808]
synonym: "acute kidney injury" EXACT [NCIT:C26808]
synonym: "acute renal failure" EXACT [NCIT:C26808]
synonym: "AKI" EXACT [NCIT:C26808]
synonym: "ARF" EXACT [NCIT:C26808]
synonym: "kidney failure, acute" EXACT [MONDO:patterns/acute]
xref: DOID:3021 {source="MONDO:equivalentTo"}
xref: ICD10:N17 {source="MONDO:equivalentTo"}
xref: MESH:D058186 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26808 {source="MONDO:equivalentTo"}
is_a: MONDO:0001106 {source="DOID:3021", source="MESH:D058186", source="MONDO:Redundant", source="NCIT:C26808"} ! kidney failure
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022660
property_value: exactMatch DOID:3021
property_value: exactMatch http://identifiers.org/mesh/D058186
property_value: exactMatch NCIT:C26808

[Term]
id: MONDO:0002493
name: prostatic acinar adenocarcinoma
def: "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." [NCIT:P378]
synonym: "acinar adenocarcinoma of prostate" EXACT [NCIT:C5596]
synonym: "acinar adenocarcinoma of the prostate" EXACT [NCIT:C5596]
synonym: "acinar prostate adenocarcinoma" EXACT [NCIT:C5596]
synonym: "prostate acinar adenocarcinoma" EXACT [NCIT:C5596]
synonym: "prostatic acinar adenocarcinoma" EXACT [DOID:3024, NCIT:C5596]
xref: DOID:3024 {source="MONDO:equivalentTo"}
xref: NCIT:C5596 {source="DOID:3024", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332139 {source="DOID:3024", source="NCIT:C5596", source="MONDO:equivalentTo"}
is_a: MONDO:0004965 {source="MONDO:Redundant", source="MONDOLEX:0002493", source="NCIT:C5596"} ! acinar cell carcinoma
is_a: MONDO:0005082 {source="DOID:3024", source="MONDO:Redundant", source="MONDOLEX:0002493", source="NCIT:C5596"} ! prostate adenocarcinoma
intersection_of: MONDO:0004965 {source="NCIT:C5596"} ! acinar cell carcinoma
intersection_of: MONDO:0005082 {source="NCIT:C5596"} ! prostate adenocarcinoma
property_value: exactMatch DOID:3024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332139
property_value: exactMatch NCIT:C5596

[Term]
id: MONDO:0002494
name: substance-related disorder
def: "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." [NCIT:C92203]
synonym: "substance-related disorder" EXACT [NCIT:C92203]
xref: DOID:303 {source="MONDO:equivalentTo"}
xref: MESH:D019966 {source="DOID:303", source="MONDO:equivalentTo"}
xref: NCIT:C92203 {source="DOID:303", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0002025 {source="DOID:303", source="MESH:D019966", source="NCIT:C92203"} ! psychiatric disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236969
property_value: exactMatch DOID:303
property_value: exactMatch http://identifiers.org/mesh/D019966
property_value: exactMatch NCIT:C92203

[Term]
id: MONDO:0002495
name: colon signet ring cell adenocarcinoma
def: "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." [NCIT:C7967]
synonym: "colon signet ring adenocarcinoma" RELATED [DOID:3033]
synonym: "colon signet Ring cell adenocarcinoma" EXACT [NCIT:C7967]
synonym: "colonic signet Ring adenocarcinoma" EXACT [DOID:3033, NCIT:C7967]
synonym: "colonic signet Ring cell adenocarcinoma" EXACT [NCIT:C7967]
synonym: "signet Ring cell adenocarcinoma of colon" EXACT [NCIT:C7967]
synonym: "signet Ring cell adenocarcinoma of the colon" EXACT [NCIT:C7967]
synonym: "signet Ring cell colon adenocarcinoma" EXACT [NCIT:C7967]
xref: DOID:3033 {source="MONDO:equivalentTo"}
xref: NCIT:C7967 {source="MONDO:equivalentTo"}
xref: UMLS:C1707436 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7967"}
is_a: MONDO:0002271 {source="DOID:3033", source="MONDO:Redundant", source="MONDOLEX:0002495", source="NCIT:C7967"} ! colon adenocarcinoma
is_a: MONDO:0044336 ! colorectal signet ring cell carcinoma
property_value: exactMatch DOID:3033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707436
property_value: exactMatch NCIT:C7967

[Term]
id: MONDO:0002496
name: submucosal invasive colon adenocarcinoma
def: "An adenocarcinoma of the colon that has invaded into the submucosa." [NCIT:C38760]
synonym: "submucosal invasive colon adenocarcinoma" EXACT [NCIT:C38760]
xref: DOID:3038 {source="MONDO:equivalentTo"}
xref: NCIT:C38760 {source="DOID:3038", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1515024 {source="NCIT:C38760", source="DOID:3038", source="MONDO:equivalentTo"}
is_a: MONDO:0002271 {source="DOID:3038", source="MONDOLEX:0002496", source="NCIT:C38760"} ! colon adenocarcinoma
is_a: MONDO:0040677 {source="NCIT:C38760"} ! invasive carcinoma
property_value: exactMatch DOID:3038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515024
property_value: exactMatch NCIT:C38760

[Term]
id: MONDO:0002497
name: food allergy
def: "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." [MESH:D005512]
synonym: "allergic disease from food material" EXACT []
synonym: "allergy of food material" EXACT [MONDO:patterns/allergy]
synonym: "food hypersensitivity" EXACT [CSP2005:1525-0902, DOID:3044]
synonym: "food material allergic disease" EXACT [MONDO:patterns/environmental_stimulus]
xref: COHD:4188027 {source="MONDO:equivalentTo"}
xref: DOID:3044 {source="MONDO:equivalentTo"}
xref: EFO:1001890 {source="MONDO:equivalentTo"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005512 {source="DOID:3044", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:414285001 {source="DOID:3044", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005271 {source="DOID:3044", source="EFO:1001890", source="MESH:D005512/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease
property_value: closeMatch http://identifiers.org/snomedct/157801005
property_value: closeMatch http://identifiers.org/snomedct/213018006
property_value: closeMatch http://identifiers.org/snomedct/52332009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016470
property_value: exactMatch DOID:3044
property_value: exactMatch http://identifiers.org/mesh/D005512
property_value: exactMatch http://identifiers.org/snomedct/414285001

[Term]
id: MONDO:0002498
name: obsolete glioblastoma multiforme (disease)
is_obsolete: true
replaced_by: MONDO:0018177

[Term]
id: MONDO:0002499
name: obsolete astrocytoma
is_obsolete: true
replaced_by: MONDO:0019781

[Term]
id: MONDO:0002500
name: obsolete gliosarcoma
is_obsolete: true
replaced_by: MONDO:0016681

[Term]
id: MONDO:0002501
name: brain glioblastoma
def: "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." [NCIT:C4642]
synonym: "brain glioblastoma" EXACT [DOID:3073, NCIT:C4642]
synonym: "brain glioblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "brain glioblastoma multiforme" EXACT [NCIT:C4642]
synonym: "brain glioblastoma multiforme (disease)" EXACT [MONDO:patterns/location]
synonym: "glioblastoma (disease) of brain" EXACT []
synonym: "glioblastoma multiforme of brain" EXACT [DOID:3073, NCIT:C4642]
synonym: "glioblastoma multiforme of the brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic neoplasm of brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic neoplasm of the brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic tumor of brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic tumor of the brain" EXACT [NCIT:C4642]
synonym: "grade IV brain astrocytic neoplasm" EXACT [NCIT:C4642]
synonym: "grade IV brain astrocytic tumor" EXACT [NCIT:C4642]
xref: DOID:3073 {source="MONDO:equivalentTo"}
xref: EFO:0006545 {source="MONDO:equivalentTo"}
xref: NCIT:C4642 {source="MONDO:equivalentTo", source="DOID:3073"}
xref: SCTID:276828006 {source="MONDO:equivalentTo", source="DOID:3073"}
xref: UMLS:C0349543 {source="MONDO:equivalentTo", source="NCIT:C4642", source="DOID:3073"}
is_a: MONDO:0005499 {source="DOID:3073", source="EFO:0006545/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain glioma
is_a: MONDO:0018177 {source="DOID:3073", source="MONDO:Redundant", source="NCIT:C4642", source="linkedlifedata", source="linkedlifedata/inferred"} ! glioblastoma (disease)
property_value: exactMatch DOID:3073
property_value: exactMatch http://identifiers.org/snomedct/276828006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349543
property_value: exactMatch NCIT:C4642

[Term]
id: MONDO:0002502
name: obsolete giant cell glioblastoma
is_obsolete: true
replaced_by: MONDO:0016682

[Term]
id: MONDO:0002503
name: adult astrocytic tumour
def: "An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma." [NCIT:C7049]
synonym: "adult astrocytic neoplasm" EXACT [NCIT:C7049]
synonym: "adult astrocytic tumor" EXACT [NCIT:C7049]
synonym: "adult astrocytoma" EXACT [DOID:3076, NCIT:C7049]
synonym: "astrocytic tumor" EXACT [NCIT:C7049]
xref: DOID:3076 {source="MONDO:equivalentTo"}
xref: NCIT:C7049 {source="MONDO:equivalentTo", source="DOID:3076"}
xref: UMLS:C1332183 {source="MONDO:equivalentTo", source="NCIT:C7049", source="DOID:3076"}
is_a: MONDO:0021636 {source="DOID:3076", source="MONDOLEX:0002503", source="NCIT:C7049"} ! astrocytic tumor
property_value: exactMatch DOID:3076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332183
property_value: exactMatch NCIT:C7049

[Term]
id: MONDO:0002504
name: obsolete grade III astrocytoma
is_obsolete: true
replaced_by: MONDO:0016684

[Term]
id: MONDO:0002505
name: childhood astrocytic tumor
def: "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." [NCIT:C9022]
synonym: "astrocytic tumor" EXACT [NCIT:C9022]
synonym: "astrocytic tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "astrocytic tumors, childhood" EXACT [NCIT:C9022]
synonym: "childhood astrocytic neoplasm" EXACT [NCIT:C9022]
synonym: "childhood astrocytic tumor" EXACT [NCIT:C9022]
synonym: "childhood astrocytic tumour" EXACT [NCIT:C9022]
synonym: "juvenile astrocytoma" EXACT [DOID:3079]
synonym: "juvenile astrocytoma (morphologic abnormality)" EXACT [DOID:3079]
synonym: "pediatric astrocytic neoplasm" EXACT [NCIT:C9022]
synonym: "pediatric astrocytic tumor" EXACT [MONDO:patterns/childhood, NCIT:C9022]
synonym: "pediatric astrocytic tumor" RELATED [MONDO:patterns/childhood]
synonym: "pediatric astrocytoma" EXACT [DOID:3079, NCIT:C9022]
xref: DOID:3079 {source="MONDO:equivalentTo"}
xref: NCIT:C9022 {source="DOID:3079", source="MONDO:equivalentTo"}
xref: UMLS:C1321865 {source="DOID:3079", source="MONDO:equivalentTo", source="NCIT:C9022"}
is_a: MONDO:0021079 ! childhood neoplasm
is_a: MONDO:0021636 {source="DOID:3079", source="MONDO:Redundant", source="MONDOLEX:0002505", source="NCIT:C9022"} ! astrocytic tumor
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:3079"} ! astrocytoma (excluding glioblastoma)
property_value: closeMatch http://identifiers.org/snomedct/128854008
property_value: closeMatch http://identifiers.org/snomedct/253065004
property_value: closeMatch http://identifiers.org/snomedct/67859002
property_value: exactMatch DOID:3079
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321865
property_value: exactMatch NCIT:C9022

[Term]
id: MONDO:0002506
name: obsolete early myoclonic encephalopathy
is_obsolete: true
replaced_by: MONDO:0016022

[Term]
id: MONDO:0002507
name: gingival overgrowth
def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214]
synonym: "gingival enlargement" EXACT [DOID:3086]
synonym: "gingival enlargement NOS" RELATED EXCLUDE [DOID:3086, MTHICD9_2006:523.8]
xref: DOID:3086 {source="MONDO:equivalentTo"}
xref: ICD10:K06.1 {source="DOID:3086"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019214 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3086"}
xref: SCTID:54711002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3086"}
is_a: MONDO:0002021 {source="DOID:3086", source="MESH:D019214", source="linkedlifedata"} ! gingival disease
property_value: closeMatch http://identifiers.org/snomedct/196375006
property_value: closeMatch http://identifiers.org/snomedct/271083000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0376480
property_value: exactMatch DOID:3086
property_value: exactMatch http://identifiers.org/mesh/D019214
property_value: exactMatch http://identifiers.org/snomedct/54711002

[Term]
id: MONDO:0002508
name: gingivitis
def: "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." [NCIT:C34636]
synonym: "acute gingivitis" NARROW [DOID:3087]
synonym: "chronic gingivitis" NARROW [DOID:3087, ICD9CM_2006:523.1]
synonym: "gingiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gingivitis" EXACT [NCIT:C34636]
synonym: "inflammation of gingiva" EXACT []
xref: DOID:3087 {source="MONDO:equivalentTo"}
xref: ICD10:K05.0 {source="DOID:3087"}
xref: ICD10:K05.00 {source="DOID:3087"}
xref: ICD10:K05.1 {source="DOID:3087"}
xref: ICD10:K05.10 {source="DOID:3087"}
xref: ICD9:523.0 {source="DOID:3087"}
xref: ICD9:523.1 {source="DOID:3087"}
xref: ICD9:523.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005891 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3087"}
xref: NCIT:C34636 {source="MONDO:equivalentTo", source="DOID:3087"}
xref: SCTID:66383009 {source="MONDO:kboom-pr-0.83/0.56/0.63", source="MONDO:equivalentTo", source="DOID:3087"}
xref: UMLS:C0017574 {source="MONDO:equivalentTo", source="DOID:3087", source="NCIT:C34636"}
is_a: MONDO:0002021 {source="DOID:3087", source="MESH:D005891", source="MONDO:Redundant", source="linkedlifedata"} ! gingival disease
is_a: MONDO:0004842 ! stomatitis
property_value: closeMatch http://identifiers.org/snomedct/155643004
property_value: closeMatch http://identifiers.org/snomedct/155644005
property_value: closeMatch http://identifiers.org/snomedct/196355002
property_value: closeMatch http://identifiers.org/snomedct/196358000
property_value: closeMatch http://identifiers.org/snomedct/234990002
property_value: closeMatch http://identifiers.org/snomedct/266490003
property_value: closeMatch http://identifiers.org/snomedct/31642005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155937
property_value: exactMatch DOID:3087
property_value: exactMatch http://identifiers.org/mesh/D005891
property_value: exactMatch http://identifiers.org/snomedct/66383009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017574
property_value: exactMatch NCIT:C34636

[Term]
id: MONDO:0002509
name: non-specific granulomatous orchitis
def: "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." [NCIT:P378]
synonym: "granulomatous orchitis" BROAD [DOID:3089, NCIT:C27162]
xref: DOID:3089 {source="MONDO:equivalentTo"}
xref: NCIT:C27162 {source="DOID:3089", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:50390006 {source="DOID:3089", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0436545 {source="DOID:3089", source="MONDO:equivalentTo", source="NCIT:C27162"}
is_a: MONDO:0006882 {source="NCIT:C27162", source="OWLReasoner:2017", source="linkedlifedata"} ! orchitis (disease)
property_value: exactMatch DOID:3089
property_value: exactMatch http://identifiers.org/snomedct/50390006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0436545
property_value: exactMatch NCIT:C27162

[Term]
id: MONDO:0002510
name: obsolete germ cell and embryonal cancer
def: "Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." [MESH:D009373]
comment: Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed.
synonym: "germ cell and embryonal neoplasm" RELATED [DOID:3095]
xref: DOID:3095 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D009373 {source="MONDO:obsoleteEquivalent", source="DOID:3095"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027658
property_value: exactMatch DOID:3095
property_value: exactMatch http://identifiers.org/mesh/D009373
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/376 xsd:string
is_obsolete: true
consider: MONDO:0005040

[Term]
id: MONDO:0002511
name: stenosis of lacrimal sac
xref: COHD:439026 {source="MONDO:equivalentTo"}
xref: DOID:3096 {source="MONDO:equivalentTo"}
xref: ICD10:H04.57 {source="DOID:3096"}
xref: ICD10:H04.579 {source="DOID:3096"}
xref: ICD9:375.54 {source="MONDO:equivalentTo", source="i2s", source="DOID:3096"}
xref: SCTID:11772001 {source="MONDO:equivalentTo", source="DOID:3096", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001854 {source="DOID:3096", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155246
property_value: exactMatch DOID:3096
property_value: exactMatch http://identifiers.org/snomedct/11772001

[Term]
id: MONDO:0002512
name: papillary adenocarcinoma
def: "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." [NCIT:C2853]
synonym: "adenocarcinoma, papillary, malignant" EXACT [NCIT:C2853]
synonym: "infiltrating and papillary adenocarcinoma" EXACT [DOID:3112]
synonym: "infiltrating papillary adenocarcinoma" EXACT [DOID:3112]
synonym: "papillary adenocarcinoma" EXACT [DOID:3112, NCIT:C2853]
synonym: "papillary adenocarcinoma (morphologic abnormality)" EXACT [DOID:3112]
synonym: "papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3112]
xref: DOID:3112 {source="MONDO:equivalentTo"}
xref: ICDO:8260/3 {source="NCIT:C2853"}
xref: MESH:D000231 {source="DOID:3112", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2853 {source="DOID:3112", source="MONDO:equivalentTo"}
xref: UMLS:C0001420 {source="DOID:3112", source="MONDO:equivalentTo", source="NCIT:C2853"}
xref: UMLS:C1321863 {source="MEDGEN:kboom-pr98-c99", source="DOID:3112", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="DOID:3112", source="MESH:D000231", source="MONDO:Redundant", source="MONDOLEX:0002512", source="NCIT:C2853"} ! adenocarcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C2853"} ! papillary carcinoma
intersection_of: MONDO:0004970 {source="NCIT:C2853"} ! adenocarcinoma
intersection_of: MONDO:0006509 {source="NCIT:C2853"} ! papillary carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189621008
property_value: closeMatch http://identifiers.org/snomedct/4797003
property_value: closeMatch http://identifiers.org/snomedct/64524002
property_value: closeMatch NCIT:C7438
property_value: exactMatch DOID:3112
property_value: exactMatch http://identifiers.org/mesh/D000231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321863
property_value: exactMatch NCIT:C2853

[Term]
id: MONDO:0002513
name: kidney benign neoplasm
def: "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." [NCIT:C4778]
synonym: "benign kidney neoplasm" EXACT [NCIT:C4778]
synonym: "benign kidney tumor" EXACT [NCIT:C4778]
synonym: "benign neoplasm of kidney" EXACT [NCIT:C4778]
synonym: "benign neoplasm of the kidney" EXACT [NCIT:C4778]
synonym: "benign renal neoplasm" EXACT [NCIT:C4778]
synonym: "benign renal tumor" EXACT [NCIT:C4778]
synonym: "benign tumor of kidney" EXACT [NCIT:C4778]
synonym: "benign tumor of the kidney" EXACT [NCIT:C4778]
synonym: "kidney benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "renal and ureteral tumor" EXACT [DOID:3116, NCIT:C7514]
synonym: "renal neoplasm, benign" EXACT [NCIT:C4778]
synonym: "renal tumor, benign" EXACT [NCIT:C4778]
xref: COHD:195498 {source="MONDO:equivalentTo"}
xref: DOID:3116 {source="MONDO:equivalentTo"}
xref: EFO:1000111 {source="MONDO:equivalentTo"}
xref: ICD9:223.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4778 {source="MONDO:equivalentTo"}
xref: SCTID:92165001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.06"}
is_a: MONDO:0004180 {source="DOID:3116", source="MONDO:Redundant", source="NCIT:C4778", source="linkedlifedata"} ! benign urinary system neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C4778", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496892
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334323
property_value: closeMatch NCIT:C7514
property_value: exactMatch DOID:3116
property_value: exactMatch http://identifiers.org/snomedct/92165001
property_value: exactMatch NCIT:C4778

[Term]
id: MONDO:0002514
name: hepatobiliary neoplasm
def: "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." [NCIT:C8614]
synonym: "hepatic and biliary neoplasms" EXACT [NCIT:C8614]
synonym: "hepatic and biliary tumors" EXACT [NCIT:C8614]
synonym: "hepatic, biliary, and gallbladder neoplasms" EXACT [NCIT:C8614]
synonym: "hepato-biliary neoplasm" EXACT [NCIT:C8614]
synonym: "hepato-biliary tumor" EXACT [NCIT:C8614]
synonym: "hepatobiliary benign neoplasm" RELATED [DOID:3117]
synonym: "hepatobiliary neoplasm" EXACT [NCIT:C8614]
synonym: "hepatobiliary system neoplasm" EXACT []
synonym: "hepatobiliary system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hepatobiliary system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hepatobiliary tumor" EXACT [NCIT:C8614]
synonym: "hepatobiliary tumors" EXACT [DOID:3117, NCIT:C8614]
synonym: "liver and biliary neoplasm" EXACT [NCIT:C8614]
synonym: "liver and biliary system neoplasm" EXACT [NCIT:C8614]
synonym: "neoplasm of hepatobiliary system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of hepatobiliary system" EXACT [MONDO:patterns/neoplasm]
xref: DOID:3117 {source="MONDO:equivalentTo"}
xref: EFO:0008550 {source="MONDO:equivalentTo"}
xref: NCIT:C8614 {source="DOID:3117", source="MONDO:equivalentTo"}
xref: UMLS:C0854196 {source="DOID:3117", source="MONDO:equivalentTo", source="NCIT:C8614"}
is_a: MONDO:0002515 ! hepatobiliary disease
is_a: MONDO:0021223 {source="EFO:0008550", source="MONDO:Redundant", source="NCIT:C8614"} ! digestive system neoplasm
property_value: exactMatch DOID:3117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854196
property_value: exactMatch NCIT:C8614

[Term]
id: MONDO:0002515
name: hepatobiliary disease
def: "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." [NCIT:P378]
synonym: "disease of hepatobiliary system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of hepatobiliary system" EXACT []
synonym: "disorder of hepatobiliary system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of hepatobiliary system" RELATED [MONDO:patterns/location_top]
synonym: "hepatobiliary disorder" EXACT [NCIT:C3959]
synonym: "hepatobiliary system disease" EXACT [MONDO:patterns/location]
synonym: "hepatobiliary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver and biliary disease" EXACT [NCIT:C3959]
synonym: "liver and biliary disorder" EXACT [NCIT:C3959]
synonym: "liver and biliary system disorder" EXACT [NCIT:C3959]
synonym: "liver and biliary tract disease" EXACT [DOID:3118]
xref: DOID:3118 {source="MONDO:equivalentTo"}
xref: NCIT:C3959 {source="MONDO:equivalentTo", source="DOID:3118"}
xref: UMLS:C0267792 {source="MONDO:equivalentTo", source="DOID:3118"}
is_a: MONDO:0004335 {source="DOID:3118", source="MONDO:Redundant", source="NCIT:C3959"} ! digestive system disease
property_value: exactMatch DOID:3118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267792
property_value: exactMatch NCIT:C3959

[Term]
id: MONDO:0002516
name: digestive system cancer
def: "A primary or metastatic malignant neoplasm involving any part of the digestive system." [NCIT:C4890]
synonym: "cancer of digestive system" EXACT [MONDO:patterns/cancer]
synonym: "digestive system cancer" EXACT [DOID:3119, MONDO:patterns/location]
synonym: "gastrointestinal cancer, NOS" RELATED EXCLUDE [NCIT:C4890]
synonym: "gastrointestinal system cancer" EXACT [NCIT:C4890]
synonym: "gastrointestinal tract cancer" EXACT [DOID:3119, NCIT:C4890]
synonym: "GI tumor" EXACT [DOID:3119, NCIT:C3052]
synonym: "malignant digestive system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4890]
synonym: "malignant gastrointestinal neoplasm" EXACT [NCIT:C4890]
synonym: "malignant gastrointestinal system neoplasm" EXACT [NCIT:C4890]
synonym: "malignant neoplasm of digestive system" EXACT [MONDO:patterns/cancer]
xref: DOID:3119 {source="MONDO:equivalentTo"}
xref: ICD10:C15.C26 {source="MONDO:equivalentTo"}
xref: ICD10:C26.9 {source="DOID:3119"}
xref: ICD9:239.0 {source="DOID:3119"}
xref: NCIT:C4890 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:3119"}
is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Redundant", source="MONDOLEX:0002516"} ! cancer
is_a: MONDO:0021223 {source="MONDO:Redundant", source="MONDOLEX:0002516", source="NCIT:C4890"} ! digestive system neoplasm
property_value: closeMatch http://identifiers.org/mesh/D004067
property_value: closeMatch http://identifiers.org/snomedct/126768004
property_value: closeMatch http://identifiers.org/snomedct/128348002
property_value: closeMatch http://identifiers.org/snomedct/128415001
property_value: closeMatch http://identifiers.org/snomedct/189527000
property_value: closeMatch http://identifiers.org/snomedct/276806006
property_value: closeMatch http://identifiers.org/snomedct/367543008
property_value: closeMatch http://identifiers.org/snomedct/428905002
property_value: closeMatch http://identifiers.org/snomedct/93811007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0012243
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017185
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0685938
property_value: exactMatch DOID:3119
property_value: exactMatch NCIT:C4890

[Term]
id: MONDO:0002517
name: tenosynovitis of foot and ankle
xref: DOID:312 {source="MONDO:equivalentTo"}
xref: ICD9:727.06 {source="DOID:312"}
is_a: MONDO:0004855 {source="DOID:312"} ! tenosynovitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158331
property_value: exactMatch DOID:312

[Term]
id: MONDO:0002518
name: gallbladder papillary neoplasm
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." [NCIT:C7130]
synonym: "gall bladder papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "gallbladder papillary neoplasm" EXACT [NCIT:C7130]
synonym: "gallbladder papillomatosis" EXACT [NCIT:C7130]
synonym: "intracystic papillary neoplasm" EXACT [NCIT:C7130]
xref: DOID:3120 {source="MONDO:equivalentTo"}
xref: NCIT:C7130 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:3120"}
xref: UMLS:C1333754 {source="MONDO:equivalentTo", source="DOID:3120", source="NCIT:C7130"}
is_a: MONDO:0021096 {source="MONDO:Redundant", source="MONDOLEX:0002518", source="NCIT:C7130"} ! papillary epithelial neoplasm
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C7130"} ! gallbladder neoplasm
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:3120"} ! biliary tract neoplasm (disease)
property_value: exactMatch DOID:3120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333754
property_value: exactMatch NCIT:C7130

[Term]
id: MONDO:0002519
name: anus disease
def: "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." [NCIT:C26695]
synonym: "anal disease" EXACT [DOID:3128]
synonym: "anal disorder" EXACT [NCIT:C26695]
synonym: "anal fissure" EXACT [DOID:3128]
synonym: "anal fissure and fistula" EXACT [DOID:3128]
synonym: "anal ulcer" EXACT [DOID:3128]
synonym: "anus disease" EXACT [MONDO:patterns/location]
synonym: "anus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of anus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of anus" EXACT []
synonym: "disorder of anal region" EXACT []
synonym: "disorder of anus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of anus" RELATED [MONDO:patterns/location_top]
synonym: "fissure in ano" EXACT [DOID:3128]
synonym: "nontraumatic tear of anus" EXACT [DOID:3128]
synonym: "solitary anal ulcer" EXACT [DOID:3128]
synonym: "Ulcer of anus" EXACT [DOID:3128]
xref: DOID:3128 {source="MONDO:equivalentTo"}
xref: MESH:D001004 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: NCIT:C26695 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: SCTID:32110003 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: UMLS:C0003462 {source="NCIT:C26695", source="DOID:3128", source="MONDO:equivalentTo"}
xref: UMLS:C0016167 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1301262 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0001593 {source="DOID:3128", source="MESH:D001004"} ! rectal disease
property_value: exactMatch DOID:3128
property_value: exactMatch http://identifiers.org/mesh/D001004
property_value: exactMatch http://identifiers.org/snomedct/32110003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003462
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301262
property_value: exactMatch NCIT:C26695

[Term]
id: MONDO:0002520
name: acute hepatic porphyria
def: "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." [MESH:D017094]
subset: ordo_group_of_disorders {source="Orphanet:95157"}
synonym: "acute porphyria" RELATED [DOID:3133, GTR:AN0932921]
synonym: "ALAD deficiency" EXACT [NCIT:C133887]
synonym: "Delta-aminolevulinate dehydratase deficiency" EXACT [NCIT:C133887]
synonym: "hepatic porphyria" EXACT [MESH:D017094, MONDO:0019798]
synonym: "hepatic Porphyrias" RELATED [MESH:D017094]
synonym: "liver porphyria" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "porphobilinogen synthase deficiency" EXACT [NCIT:C133887]
synonym: "porphyria of liver" EXACT [MONDO:design_pattern]
synonym: "porphyria, hepatic" RELATED [MESH:D017094]
xref: DOID:3133 {source="MONDO:equivalentTo"}
xref: GTR:AN0932921 {source="UMLS:CN552491"}
xref: ICD10:E80.2 {source="Orphanet:95157", source="ORDO:95157/inclusion", source="ORDO:95157/ntbt"}
xref: MESH:D017094 {source="DOID:3133", source="MONDO:equivalentTo"}
xref: NCIT:C133887 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.70/1.71"}
xref: Orphanet:95157 {source="MONDO:equivalentTo"}
xref: SCTID:55056006 {source="DOID:3133", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0162533 {source="DOID:3133", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN552491 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="MESH:D017094", source="MONDO:Redundant", source="linkedlifedata"} ! liver disease
is_a: MONDO:0037939 {source="MONDO:Redundant", source="linkedlifedata"} ! porphyria
relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:95157"} ! rare hereditary metabolic disease with peripheral neuropathy
relationship: excluded_subClassOf MONDO:0019142 {source="DOID:3133", source="MESH:D017094", source="Orphanet:95157"} ! inherited porphyria
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:D017094"} ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268328
property_value: exactMatch DOID:3133
property_value: exactMatch http://identifiers.org/mesh/D017094
property_value: exactMatch http://identifiers.org/snomedct/55056006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162533
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN552491
property_value: exactMatch NCIT:C133887
property_value: exactMatch Orphanet:95157

[Term]
id: MONDO:0002521
name: obsolete multiple symmetrical lipomatosis
is_obsolete: true
replaced_by: MONDO:0007908

[Term]
id: MONDO:0002522
name: tenosynovial giant cell tumor
def: "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." [NCIT:C3402]
synonym: "fibrous histiocytoma of tendon sheath" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of tendon sheath" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3402]
synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM_2006:727.02, NCIT:C3402]
synonym: "giant cell tumor of Tenosynovium" EXACT [DOID:314, NCIT:C3402]
synonym: "giant cell tumor of the Tenosynovium" EXACT [NCIT:C3402]
synonym: "tendon sheath giant cell neoplasm" EXACT [NCIT:C3402]
synonym: "tendon sheath giant cell tumor" EXACT [MONDO:patterns/location, NCIT:C3402]
synonym: "tenosynovial giant cell neoplasm" EXACT [NCIT:C3402]
synonym: "tenosynovial giant cell tumor" EXACT [MONDO:0006443, NCIT:C3402]
xref: DOID:314 {source="MONDO:equivalentTo"}
xref: EFO:1000562 {source="MONDO:equivalentTo"}
xref: ICD9:727.02 {source="DOID:314", source="MONDO:superClassOf"}
xref: ICD9:727.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9252/0 {source="NCIT:C3402"}
xref: NCIT:C3402 {source="DOID:314", source="EFO:1000562", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29"}
xref: SCTID:310605004 {source="DOID:314", source="MONDO:kboom-pr-0.95/0.83/1.28", source="MONDO:equivalentTo"}
xref: UMLS:C1318543 {source="DOID:314", source="MONDO:equivalentTo", source="NCIT:C3402"}
is_a: MONDO:0002171 {source="DOID:314", source="MONDO:Redundant", source="MONDOLEX:0002522", source="NCIT:C3402"} ! giant cell tumor
is_a: MONDO:0002528 {source="NCIT:C3402"} ! synovium neoplasm
is_a: MONDO:0021581 ! connective tissue neoplasm
is_a: MONDO:0024876 ! tendon sheath disorder
disjoint_from: MONDO:0006906 ! pigmented villonodular synovitis
property_value: closeMatch http://identifiers.org/snomedct/128777004
property_value: closeMatch http://identifiers.org/snomedct/71508003
property_value: exactMatch DOID:314
property_value: exactMatch http://identifiers.org/snomedct/310605004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318543
property_value: exactMatch NCIT:C3402

[Term]
id: MONDO:0002523
name: cutaneous mucinosis
def: "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." [ISBN:978-0-7020-3485-5]
comment: Editor note: consider splitting by location
synonym: "mucinoses" RELATED [DOID:3141]
synonym: "mucinosis" EXACT [DOID:3141, MESH:D017520]
synonym: "mucinosis affecting the skin" EXACT []
xref: DOID:3141 {source="MONDO:equivalentTo"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017520 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3141"}
xref: SCTID:402721001 {source="MONDO:equivalentTo"}
xref: UMLS:C0162855 {source="MONDO:equivalentTo", source="DOID:3141"}
is_a: MONDO:0005093 ! skin disease
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:3141", source="MESH:D017520"} ! connective tissue disease
property_value: closeMatch http://identifiers.org/snomedct/11528001
property_value: exactMatch DOID:3141
property_value: exactMatch http://identifiers.org/mesh/D017520
property_value: exactMatch http://identifiers.org/snomedct/402721001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162855

[Term]
id: MONDO:0002524
name: obsolete hyperlipoproteinemia type III
is_obsolete: true
replaced_by: MONDO:0018473

[Term]
id: MONDO:0002525
name: inherited lipid metabolism disorder
def: "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." [NCIT:C97092]
subset: ordo_group_of_disorders {source="Orphanet:309005"}
synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707]
synonym: "dyslipidemia" BROAD [DOID:3146]
synonym: "fatty acid metabolism disorder" RELATED [DOID:3146]
synonym: "lipid metabolism disorder" BROAD [DOID:3146]
xref: DOID:3146 {source="MONDO:equivalentTo"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:272.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10061227 {source="Orphanet:309005", source="ORDO:309005/e"}
xref: NCIT:C97092 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.81/0.12"}
xref: Orphanet:309005 {source="MONDO:equivalentTo"}
xref: SCTID:267431006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.20"}
xref: UMLS:C0154251 {source="NCIT:C97092", source="MONDO:equivalentTo", source="Orphanet:309005", source="ORDO:309005/e"}
is_a: MONDO:0019052 {source="DOID:3146", source="MONDO:Redundant", source="NCIT:C97092", source="Orphanet:309005"} ! inborn errors of metabolism
property_value: closeMatch http://identifiers.org/mesh/D008052
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023772
property_value: exactMatch DOID:3146
property_value: exactMatch http://identifiers.org/meddra/10061227
property_value: exactMatch http://identifiers.org/snomedct/267431006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154251
property_value: exactMatch NCIT:C97092
property_value: exactMatch Orphanet:309005

[Term]
id: MONDO:0002526
name: dermal unilateral segmental cavernous angioma
synonym: "unilateral segmental cavernous hemangioma" EXACT [DOID:3148]
synonym: "unilateral segmental cavernous hemangioma of the skin" EXACT [DOID:3148, NCIT:C4750]
xref: DOID:3148 {source="MONDO:equivalentTo"}
xref: UMLS:C0474966 {source="MEDGEN:kboom-pr98-c99", source="DOID:3148", source="MONDO:equivalentTo"}
is_a: MONDO:0003155 {source="DOID:3148", source="MONDOLEX:0002526"} ! cavernous hemangioma
property_value: closeMatch http://identifiers.org/snomedct/254783008
property_value: exactMatch DOID:3148
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474966

[Term]
id: MONDO:0002527
name: keratoacanthoma
def: "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." [NCIT:C3146]
xref: DOID:3149 {source="MONDO:equivalentTo"}
xref: ICDO:8071/1 {source="NCIT:C3146"}
xref: MESH:D007636 {source="MONDO:equivalentTo", source="DOID:3149", source="MONDO:ontobio"}
xref: NCIT:C3146 {source="MONDO:equivalentTo", source="DOID:3149", source="exact-label-match"}
xref: SCTID:254662007 {source="MONDO:kboom-pr-1.00/0.84/14.51", source="MONDO:equivalentTo", source="DOID:3149"}
xref: UMLS:C0022572 {source="MONDO:equivalentTo", source="DOID:3149", source="NCIT:C3146"}
is_a: MONDO:0021634 {source="NCIT:C3146"} ! epithelial skin neoplasm
relationship: disease_shares_features_of MONDO:0005096 {source="PMID:8277007"} ! squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0002529 {source="Clinically and histologically, it may be confused with a de novo highly malignant squamous cell carcinoma (SCC). However, KA may be viewed as an abortive cancer that only rarely progresses into an aggressive SCC - PMID:8277007", source="DOID:3149", source="PMID:8277007"} ! skin squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/156395005
property_value: closeMatch http://identifiers.org/snomedct/201061007
property_value: closeMatch http://identifiers.org/snomedct/201064004
property_value: closeMatch http://identifiers.org/snomedct/267858008
property_value: closeMatch http://identifiers.org/snomedct/58220003
property_value: exactMatch DOID:3149
property_value: exactMatch http://identifiers.org/mesh/D007636
property_value: exactMatch http://identifiers.org/snomedct/254662007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022572
property_value: exactMatch NCIT:C3146

[Term]
id: MONDO:0002528
name: synovium neoplasm
def: "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." [NCIT:P378]
synonym: "neoplasm of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of synovium" EXACT [NCIT:C8964]
synonym: "neoplasm of the synovium" EXACT [NCIT:C8964]
synonym: "synovial membrane of synovial joint neoplasm" EXACT []
synonym: "synovial membrane of synovial joint neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "synovial membrane of synovial joint tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "synovial neoplasm" EXACT [NCIT:C8964]
synonym: "synovial neoplasm (morphologic abnormality)" EXACT [DOID:315]
synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [DOID:315]
synonym: "synovial tumor" EXACT [NCIT:C8964]
synonym: "tumor of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of synovium" EXACT [DOID:315, NCIT:C8964]
synonym: "tumor of the synovium" EXACT [NCIT:C8964]
xref: DOID:315 {source="MONDO:equivalentTo"}
xref: NCIT:C8964 {source="DesignPattern", source="DOID:315", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.29"}
xref: UMLS:C0476203 {source="DOID:315", source="MONDO:equivalentTo", source="NCIT:C8964"}
is_a: MONDO:0006424 {source="NCIT:C8964"} ! soft tissue neoplasm
is_a: MONDO:0006816 ! arthropathy
is_a: MONDO:0056799 ! synovium disease
property_value: closeMatch http://identifiers.org/snomedct/189829008
property_value: closeMatch http://identifiers.org/snomedct/189831004
property_value: exactMatch DOID:315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476203
property_value: exactMatch NCIT:C8964

[Term]
id: MONDO:0002529
name: skin squamous cell carcinoma
def: "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated." [NCIT:C4819]
synonym: "CSCC" RELATED [ONCOTREE:CSCC]
synonym: "cutaneous squamous cell carcinoma" EXACT [NCIT:C4819]
synonym: "epidermoid carcinoma of skin" EXACT [NCIT:C4819]
synonym: "epidermoid carcinoma of the skin" EXACT [NCIT:C4819]
synonym: "epidermoid skin carcinoma" EXACT [DOID:3151, NCIT:C4819]
synonym: "skin squamous cell cancer" EXACT [NCIT:C4819]
synonym: "skin squamous cell carcinoma" EXACT [NCIT:C4819]
synonym: "squamous cell carcinoma - skin" EXACT [NCIT:C4819]
synonym: "squamous cell carcinoma of skin" EXACT [DOID:3151, NCIT:C4819]
synonym: "squamous cell carcinoma of the skin" EXACT [NCIT:C4819]
synonym: "squamous cell skin carcinoma" EXACT [NCIT:C4819]
synonym: "zone of skin squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: COHD:4111921 {source="MONDO:equivalentTo"}
xref: DOID:3151 {source="MONDO:equivalentTo"}
xref: EFO:1001927 {source="MONDO:equivalentTo"}
xref: NCIT:C4819 {source="MONDO:equivalentTo", source="DOID:3151", source="exact-label-match"}
xref: ONCOTREE:CSCC {source="MONDO:equivalentTo"}
xref: SCTID:254651007 {source="MONDO:kboom-pr-1.00/0.79/8.45", source="MONDO:equivalentTo", source="DOID:3151"}
xref: UMLS:C0553723 {source="NCIT:C4819", source="MONDO:equivalentTo", source="DOID:3151"}
is_a: MONDO:0002656 {source="DOID:3151", source="MONDO:Redundant", source="MONDOLEX:0002529", source="NCIT:C4819"} ! skin carcinoma
is_a: MONDO:0005096 {source="DOID:3151", source="EFO:1001927", source="MONDO:Redundant", source="MONDOLEX:0002529", source="NCIT:C4819", source="linkedlifedata"} ! squamous cell carcinoma
property_value: exactMatch DOID:3151
property_value: exactMatch http://identifiers.org/snomedct/254651007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553723
property_value: exactMatch NCIT:C4819

[Term]
id: MONDO:0002530
name: obsolete malignant spindle cell melanoma
is_obsolete: true
replaced_by: MONDO:0006427

[Term]
id: MONDO:0002531
name: skin neoplasm
def: "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." [NCIT:P378]
synonym: "neoplasm of skin" EXACT [NCIT:C3372]
synonym: "neoplasm of skin by site" EXACT [DOID:3165]
synonym: "neoplasm of the skin" EXACT [NCIT:C3372]
synonym: "neoplasm of zone of skin" EXACT [MONDO:patterns/neoplasm]
synonym: "skin" RELATED [ONCOTREE:SKIN]
synonym: "skin benign neoplasm" RELATED [DOID:3165]
synonym: "skin neoplasm" EXACT [CSP2005:2020-0536, DOID:3165, NCIT:C3372]
synonym: "skin neoplasms" EXACT [NCIT:C3372]
synonym: "skin tumor" EXACT [NCIT:C3372]
synonym: "tumor of skin" EXACT [NCIT:C3372]
synonym: "tumor of the skin" EXACT [DOID:3165, NCIT:C3372]
synonym: "tumor of zone of skin" EXACT [MONDO:patterns/neoplasm]
synonym: "zone of skin neoplasm" EXACT []
synonym: "zone of skin neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "zone of skin tumor" EXACT [MONDO:patterns/neoplasm]
xref: DOID:3165 {source="MONDO:equivalentTo"}
xref: EFO:0004198 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012878 {source="DOID:3165", source="MONDO:equivalentTo"}
xref: NCIT:C3372 {source="DOID:3165", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.74/0.38"}
xref: ONCOTREE:SKIN {source="MONDO:equivalentTo"}
xref: SCTID:126488004 {source="DOID:3165", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037286 {source="DOID:3165", source="NCIT:C3372", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="DOID:3165/inferred", source="MESH:D012878/inferred", source="MONDO:Redundant", source="MONDOLEX:0002531", source="NCIT:C3372/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
is_a: MONDO:0005093 {source="MESH:D012878", source="MONDO:Redundant", source="NCIT:C3372", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/363230005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1123023
property_value: closeMatch NCIT:C12470
property_value: exactMatch DOID:3165
property_value: exactMatch http://identifiers.org/mesh/D012878
property_value: exactMatch http://identifiers.org/snomedct/126488004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037286
property_value: exactMatch NCIT:C3372

[Term]
id: MONDO:0002532
name: squamous cell neoplasm
def: "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." [NCIT:C3792]
synonym: "epidermoid cell neoplasm" EXACT [NCIT:C3792]
synonym: "epidermoid cell tumor" EXACT [DOID:3168, NCIT:C3792]
synonym: "squamous cell neoplasm" EXACT [NCIT:C3792]
synonym: "squamous cell tumor" EXACT [NCIT:C3792]
synonym: "squamous cell tumor (qualifier value)" EXACT [DOID:3168]
xref: DOID:3168 {source="MONDO:equivalentTo"}
xref: MESH:D018307 {source="DOID:3168", source="MONDO:equivalentTo"}
xref: NCIT:C3792 {source="DOID:3168", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206720 {source="DOID:3168", source="NCIT:C3792", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="MESH:D018307", source="NCIT:C3792"} ! epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/118286007
property_value: closeMatch http://identifiers.org/snomedct/134208005
property_value: closeMatch http://identifiers.org/snomedct/189560002
property_value: exactMatch DOID:3168
property_value: exactMatch http://identifiers.org/mesh/D018307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206720
property_value: exactMatch NCIT:C3792

[Term]
id: MONDO:0002533
name: papillary adenoma
def: "An adenoma characterized by the presence of papillary epithelial patterns." [NCIT:C79951]
synonym: "adenoma, papillary, benign" EXACT [NCIT:C79951]
synonym: "glandular papilloma" EXACT [DOID:3172, NCIT:C6880]
synonym: "papillary adenoma" EXACT [NCIT:C79951]
synonym: "papillary adenoma NOS (morphologic abnormality)" EXACT [DOID:3172]
xref: DOID:3172 {source="MONDO:equivalentTo"}
xref: NCIT:C79951 {source="MONDO:equivalentTo", source="DOID:3172"}
xref: UMLS:C0205650 {source="MONDO:equivalentTo", source="DOID:3172"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C79951"} ! adenoma
is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C79951"} ! papillary epithelial neoplasm
intersection_of: MONDO:0004972 {source="NCIT:C79951"} ! adenoma
intersection_of: MONDO:0021096 {source="NCIT:C79951"} ! papillary epithelial neoplasm
relationship: excluded_subClassOf MONDO:0002363 {source="DOID:3172"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/189620009
property_value: closeMatch http://identifiers.org/snomedct/86143001
property_value: exactMatch DOID:3172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205650
property_value: exactMatch NCIT:C79951

[Term]
id: MONDO:0002534
name: fallopian tube papilloma
def: "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." [NCIT:C40112]
synonym: "fallopian tube papilloma" EXACT [MONDO:patterns/location, NCIT:C40112]
synonym: "fallopian tube serous papilloma" EXACT [NCIT:C40112]
xref: DOID:3173 {source="MONDO:equivalentTo"}
xref: NCIT:C40112 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:3173", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1517123 {source="MONDO:equivalentTo", source="DOID:3173", source="NCIT:C40112"}
is_a: MONDO:0000645 {source="DOID:3173", source="MONDO:Redundant", source="NCIT:C40112"} ! fallopian tube benign neoplasm
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C40112"} ! papilloma
property_value: exactMatch DOID:3173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517123
property_value: exactMatch NCIT:C40112

[Term]
id: MONDO:0002535
name: verrucous papilloma
def: "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." [NCIT:P378]
xref: DOID:3177 {source="MONDO:equivalentTo"}
xref: ICDO:8051/0 {source="NCIT:C4101"}
xref: NCIT:C4101 {source="DOID:3177", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0334243 {source="DOID:3177", source="MONDO:equivalentTo", source="NCIT:C4101"}
is_a: MONDO:0002363 {source="DOID:3177"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/48218007
property_value: exactMatch DOID:3177
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334243
property_value: exactMatch NCIT:C4101

[Term]
id: MONDO:0002536
name: skin papilloma
def: "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin." [NCIT:C4614]
synonym: "basosquamous tumor, benign" EXACT [NCIT:C4614]
synonym: "cutaneous papilloma" EXACT [CSP2005:2020-2747, DOID:3178, NCIT:C4614]
synonym: "papilloma of skin" EXACT [DOID:3178, NCIT:C4614]
synonym: "papilloma of the skin" EXACT [NCIT:C4614]
synonym: "skin papilloma" EXACT [NCIT:C4614]
synonym: "skin papilloma NOS" RELATED EXCLUDE [DOID:3178]
synonym: "zone of skin papilloma" EXACT [MONDO:patterns/location]
xref: DOID:3178 {source="MONDO:equivalentTo"}
xref: NCIT:C4614 {source="DOID:3178", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:255184001 {source="DOID:3178", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0347390 {source="DOID:3178", source="MONDO:equivalentTo", source="NCIT:C4614"}
is_a: MONDO:0002363 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614"} ! papilloma
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154613008
property_value: closeMatch http://identifiers.org/snomedct/189051001
property_value: closeMatch http://identifiers.org/snomedct/269639005
property_value: exactMatch DOID:3178
property_value: exactMatch http://identifiers.org/snomedct/255184001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347390
property_value: exactMatch NCIT:C4614

[Term]
id: MONDO:0002537
name: inverted papilloma
def: "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses." [NCIT:C3793]
synonym: "inverted papilloma" EXACT [DOID:3179, NCIT:C3793]
synonym: "inverted papilloma, squamous cell" EXACT [DOID:3179]
xref: DOID:3179 {source="MONDO:equivalentTo"}
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018308 {source="DOID:3179", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3793 {source="DOID:3179", source="MONDO:equivalentTo"}
xref: SCTID:104081000119103 {source="DOID:3179", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0206721 {source="DOID:3179", source="MONDO:equivalentTo", source="NCIT:C3793"}
is_a: MONDO:0002363 {source="DOID:3179", source="MESH:D018308", source="NCIT:C3793"} ! papilloma
property_value: exactMatch DOID:3179
property_value: exactMatch http://identifiers.org/mesh/D018308
property_value: exactMatch http://identifiers.org/snomedct/104081000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206721
property_value: exactMatch NCIT:C3793

[Term]
id: MONDO:0002538
name: obsolete progressive muscular atrophy
is_obsolete: true
replaced_by: MONDO:0018687

[Term]
id: MONDO:0002539
name: obsolete oligodendroglioma
is_obsolete: true
replaced_by: MONDO:0016695

[Term]
id: MONDO:0002540
name: childhood oligodendroglioma
def: "An oligodendroglioma that arises from the central nervous system and occurs during childhood." [NCIT:C4045]
synonym: "oligodendroglioma" EXACT [NCIT:C4045]
synonym: "oligodendroglioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric oligodendroglioma" EXACT [DOID:3183, MONDO:patterns/childhood, NCIT:C4045]
synonym: "pediatric oligodendroglioma" RELATED [MONDO:patterns/childhood]
xref: DOID:3183 {source="MONDO:equivalentTo"}
xref: NCIT:C4045 {source="MONDO:equivalentTo", source="DOID:3183"}
xref: UMLS:C0280475 {source="NCIT:C4045", source="MONDO:equivalentTo", source="DOID:3183"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0016695 {source="DOID:3183", source="MONDO:Redundant", source="MONDOLEX:0002540", source="NCIT:C4045"} ! oligodendroglioma
property_value: exactMatch DOID:3183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280475
property_value: exactMatch NCIT:C4045

[Term]
id: MONDO:0002541
name: spinal cord oligodendroglioma
def: "A oligodendroglioma that involves the spinal cord." [MONDO:patterns/location]
synonym: "oligodendroglioma of spinal cord" EXACT [NCIT:C4535]
synonym: "spinal cord oligodendroglioma" EXACT [MONDO:patterns/location, NCIT:C4535]
synonym: "well differentiated spinal cord oligodendroglial tumor" EXACT [NCIT:C4535]
synonym: "well differentiated spinal cord oligodendroglioma" EXACT [DOID:3184, NCIT:C4535]
xref: DOID:3184 {source="MONDO:equivalentTo"}
xref: NCIT:C4535 {source="MONDO:equivalentTo", source="DOID:3184", source="exact-label-match"}
xref: SCTID:254950006 {source="MONDO:equivalentTo", source="DOID:3184", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346295 {source="MONDO:equivalentTo", source="NCIT:C4535", source="DOID:3184"}
is_a: MONDO:0002542 {source="DOID:3184", source="MONDO:Redundant", source="NCIT:C4535", source="indirect"} ! spinal cord glioma
is_a: MONDO:0016695 {source="DOID:3184", source="MONDO:Redundant", source="MONDOLEX:0002541", source="NCIT:C4535"} ! oligodendroglioma
property_value: exactMatch DOID:3184
property_value: exactMatch http://identifiers.org/snomedct/254950006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346295
property_value: exactMatch NCIT:C4535

[Term]
id: MONDO:0002542
name: spinal cord glioma
def: "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." [NCIT:C4534]
synonym: "glial neoplasm spinal cord" EXACT [DOID:3185, NCIT:C4534]
synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534]
synonym: "glioma of spinal cord" EXACT [DOID:3185]
synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern]
synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534]
synonym: "spinal cord glial tumor" EXACT [NCIT:C4534]
synonym: "spinal cord glioma" EXACT [NCIT:C4534]
synonym: "spinal cord malignant glioma" EXACT [MONDO:patterns/location]
xref: DOID:3185 {source="MONDO:equivalentTo"}
xref: NCIT:C4534 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3185"}
xref: SCTID:254946004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C2937245 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003544 {source="DOID:3185", source="MONDO:Entailed", source="MONDO:Redundant"} ! spinal cord cancer
is_a: MONDO:0015917 {source="DOID:3185", source="MONDO:Redundant", source="MONDOLEX:0002542"} ! malignant glioma
property_value: closeMatch http://identifiers.org/snomedct/254947008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346294
property_value: exactMatch DOID:3185
property_value: exactMatch http://identifiers.org/snomedct/254946004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937245
property_value: exactMatch NCIT:C4534

[Term]
id: MONDO:0002543
name: adult oligodendroglioma
def: "An oligodendroglioma occurring during adulthood." [NCIT:C4014]
synonym: "adult brain oligodendroglioma" EXACT [DOID:3186]
synonym: "adult oligodendroglioma" EXACT [NCIT:C4014]
synonym: "grade II adult oligodendroglial tumor" EXACT [DOID:3186, NCIT:C4014]
synonym: "oligodendroglioma" EXACT [NCIT:C4014]
synonym: "oligodendroglioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3186 {source="MONDO:equivalentTo"}
xref: NCIT:C4014 {source="MONDO:equivalentTo", source="DOID:3186"}
xref: UMLS:C0279070 {source="MONDO:equivalentTo", source="NCIT:C4014", source="DOID:3186"}
is_a: MONDO:0016695 {source="DOID:3186", source="MONDO:Redundant", source="MONDOLEX:0002543", source="NCIT:C4014"} ! oligodendroglioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332190
property_value: closeMatch NCIT:C9376
property_value: exactMatch DOID:3186
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279070
property_value: exactMatch NCIT:C4014

[Term]
id: MONDO:0002544
name: brain oligodendroglioma
def: "A oligodendroglioma that involves the brain." [MONDO:patterns/location]
synonym: "brain oligodendroglioma" EXACT [DOID:3187, MONDO:patterns/location, NCIT:C9377]
synonym: "oligodendroglioma of brain" EXACT [NCIT:C9377]
synonym: "oligodendroglioma of the brain" EXACT [NCIT:C9377]
xref: DOID:3187 {source="MONDO:equivalentTo"}
xref: NCIT:C9377 {source="DOID:3187", source="MONDO:equivalentTo"}
xref: SCTID:254940005 {source="DOID:3187", source="MONDO:equivalentTo"}
xref: UMLS:C0346286 {source="DOID:3187", source="NCIT:C9377", source="MONDO:equivalentTo"}
is_a: MONDO:0005499 {source="DOID:3187", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! brain glioma
is_a: MONDO:0016695 {source="DOID:3187", source="MONDO:Redundant", source="MONDOLEX:0002544", source="NCIT:C9377"} ! oligodendroglioma
property_value: exactMatch DOID:3187
property_value: exactMatch http://identifiers.org/snomedct/254940005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346286
property_value: exactMatch NCIT:C9377

[Term]
id: MONDO:0002545
name: spinal cord disease
def: "A disease involving the spinal cord." [MONDO:DesignPattern]
synonym: "disease of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of spinal cord" EXACT []
synonym: "disorder of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disorder of spinal cord" RELATED [MONDO:patterns/location_top]
synonym: "myelopathy" RELATED [DOID:319]
synonym: "spinal cord disease" EXACT [MONDO:patterns/location]
synonym: "spinal cord disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spinal cord disorder" EXACT [NCIT:C97110]
xref: COHD:135526 {source="MONDO:equivalentTo"}
xref: DOID:319 {source="MONDO:equivalentTo"}
xref: ICD10:G95.9 {source="DOID:319"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:336.9 {source="MONDO:equivalentTo", source="DOID:319", source="i2s"}
xref: MESH:D013118 {source="MONDO:equivalentTo", source="DOID:319", source="MONDO:ontobio"}
xref: NCIT:C97110 {source="MONDO:equivalentTo", source="DOID:319"}
xref: SCTID:48522003 {source="MONDO:equivalentTo", source="DOID:319", source="MONDO:kboom-pr-1.00/0.91/28.77"}
xref: UMLS:C0037928 {source="MONDO:equivalentTo", source="DOID:319"}
is_a: MONDO:0002602 {source="DOID:319", source="MESH:D013118", source="MONDO:Redundant", source="NCIT:C97110", source="linkedlifedata"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155020007
property_value: closeMatch http://identifiers.org/snomedct/192908002
property_value: closeMatch http://identifiers.org/snomedct/192913003
property_value: closeMatch http://identifiers.org/snomedct/267587000
property_value: closeMatch http://identifiers.org/snomedct/267695005
property_value: closeMatch http://identifiers.org/snomedct/95648003
property_value: exactMatch DOID:319
property_value: exactMatch http://identifiers.org/mesh/D013118
property_value: exactMatch http://identifiers.org/snomedct/48522003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037928
property_value: exactMatch NCIT:C97110

[Term]
id: MONDO:0002546
name: schwannoma
def: "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:C3269]
subset: gard_rare {source="GARD:0004767"}
subset: ordo_disease {source="Orphanet:252164"}
synonym: "benign neurilemmoma" EXACT [MONDO:0004818, NCIT:C3269]
synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269]
synonym: "neurilemmoma" EXACT [NCIT:C3269, Orphanet:252164]
synonym: "neurinoma" EXACT [NCIT:C3269]
synonym: "neurolemmoma" RELATED [GARD:0004767]
synonym: "peripheral fibroblastoma" EXACT [Orphanet:252164]
synonym: "psammomatous schwannoma" EXACT [DOID:3192]
synonym: "SCHW" RELATED [ONCOTREE:SCHW]
synonym: "schwannoma" EXACT [DOID:3192, NCIT:C3269]
synonym: "schwannoma (WHO grade I)" EXACT [NCIT:C3269]
synonym: "schwannoma, benign" EXACT [NCIT:C3269]
xref: DOID:3192 {source="MONDO:equivalentTo"}
xref: DOID:955 {source="MONDO:obsoleteEquivalent"}
xref: EFO:0000693 {source="MONDO:equivalentTo"}
xref: GARD:0004767 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9560/0 {source="NCIT:C3269"}
xref: MedDRA:10029234 {source="ORDO:252164/e", source="Orphanet:252164"}
xref: MedDRA:10029235 {source="ORDO:252164/e", source="Orphanet:252164"}
xref: NCIT:C3269 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SCHW {source="MONDO:equivalentTo"}
xref: Orphanet:252164 {source="MONDO:equivalentTo"}
xref: SCTID:404022001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3192"}
xref: UMLS:C0027809 {source="ORDO:252164/e", source="Orphanet:252164", source="MONDO:equivalentTo", source="DOID:3192", source="NCIT:C3269"}
xref: UMLS:CN202001 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002547 {source="NCIT:C3269", source="ONCOTREE:SCHW"} ! nerve sheath neoplasm
is_a: MONDO:0016752 {source="Orphanet:252164"} ! benign peripheral nerve sheath tumor
is_a: MONDO:0021637 ! low grade glioma
relationship: has_modifier MONDO:0024491 {source="NCIT:C3269"} ! tumor grade 1, general grading system
property_value: closeMatch http://identifiers.org/mesh/D009442
property_value: closeMatch http://identifiers.org/snomedct/189948006
property_value: closeMatch http://identifiers.org/snomedct/985004
property_value: exactMatch DOID:3192
property_value: exactMatch DOID:955
property_value: exactMatch http://identifiers.org/meddra/10029234
property_value: exactMatch http://identifiers.org/meddra/10029235
property_value: exactMatch http://identifiers.org/snomedct/404022001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202001
property_value: exactMatch NCIT:C3269
property_value: exactMatch Orphanet:252164
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4767/schwannoma xsd:anyURI {source="GARD:0004767"}

[Term]
id: MONDO:0002547
name: nerve sheath neoplasm
def: "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." [NCIT:C4972]
synonym: "neoplasm of nerve sheath" EXACT [NCIT:C4972]
synonym: "neoplasm of the nerve sheath" EXACT [DOID:3193, NCIT:C4972]
synonym: "nerve sheath neoplasm" EXACT [NCIT:C4972]
synonym: "nerve sheath tumor" EXACT [NCIT:C4972]
synonym: "nerve sheath tumour" EXACT [DOID:3193]
synonym: "peripheral nerve sheath neoplasm" EXACT []
synonym: "tumor of nerve sheath" EXACT [NCIT:C4972]
xref: DOID:3193 {source="MONDO:equivalentTo"}
xref: MESH:D018317 {source="MONDO:equivalentTo", source="DOID:3193"}
xref: NCIT:C4972 {source="MONDO:equivalentTo", source="kboom:pr0.75-conf4.32"}
xref: ONCOTREE:NST {source="MONDO:equivalentTo"}
is_a: MONDO:0001406 {source="DOID:3193", source="MESH:D018317", source="MONDOLEX:0002547", source="ONCOTREE:NST"} ! peripheral nervous system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206727
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751689
property_value: exactMatch DOID:3193
property_value: exactMatch http://identifiers.org/mesh/D018317
property_value: exactMatch NCIT:C4972

[Term]
id: MONDO:0002548
name: cellular schwannoma
def: "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." [NCIT:C4724]
synonym: "cellular neurilemmoma" EXACT [NCIT:C4724]
synonym: "cellular neurinoma" EXACT [DOID:3196, NCIT:C4724]
synonym: "cellular schwannoma" EXACT [NCIT:C4724]
synonym: "CSCHW" RELATED [ONCOTREE:CSCHW]
xref: DOID:3196 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4724 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3196"}
xref: ONCOTREE:CSCHW {source="MONDO:equivalentTo"}
xref: SCTID:404026003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.35", source="DOID:3196"}
xref: UMLS:C0431124 {source="MONDO:equivalentTo", source="NCIT:C4724", source="DOID:3196"}
is_a: MONDO:0002546 {source="DOID:3196", source="NCIT:C4724", source="ONCOTREE:CSCHW", source="linkedlifedata"} ! schwannoma
property_value: closeMatch http://identifiers.org/snomedct/253086004
property_value: closeMatch http://identifiers.org/snomedct/985004
property_value: exactMatch DOID:3196
property_value: exactMatch http://identifiers.org/snomedct/404026003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431124
property_value: exactMatch NCIT:C4724

[Term]
id: MONDO:0002549
name: schwannoma of twelfth cranial nerve
def: "A schwannoma that involves the hypoglossal nerve." [MONDO:patterns/location]
synonym: "hypoglossal nerve neurilemmoma" EXACT [NCIT:C5434]
synonym: "hypoglossal nerve schwannoma" EXACT [MONDO:patterns/location, NCIT:C5434]
synonym: "hypoglossal neurilemmoma" EXACT [NCIT:C5434]
synonym: "hypoglossal schwannoma" EXACT [DOID:3197, NCIT:C5434]
synonym: "neurilemmoma of hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of the hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of the twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of the hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of the twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "twelfth cranial nerve neurilemmoma" EXACT [NCIT:C5434]
synonym: "twelfth cranial nerve schwannoma" EXACT [NCIT:C5434]
xref: DOID:3197 {source="MONDO:equivalentTo"}
xref: NCIT:C5434 {source="MONDO:equivalentTo", source="DOID:3197"}
xref: UMLS:C1335928 {source="MONDO:equivalentTo", source="NCIT:C5434", source="DOID:3197"}
is_a: MONDO:0002546 {source="DOID:3197", source="MONDO:Redundant", source="NCIT:C5434"} ! schwannoma
is_a: MONDO:0002550 {source="DOID:3197", source="MONDO:Redundant", source="NCIT:C5434"} ! hypoglossal nerve neoplasm
property_value: exactMatch DOID:3197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335928
property_value: exactMatch NCIT:C5434

[Term]
id: MONDO:0002550
name: hypoglossal nerve neoplasm
def: "A neoplasm involving a hypoglossal nerve." [MONDO:patterns/neoplasm]
synonym: "hypoglossal nerve neoplasm" EXACT [NCIT:C5830]
synonym: "hypoglossal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hypoglossal nerve neoplasms" EXACT [NCIT:C5830]
synonym: "hypoglossal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "hypoglossal nerve tumors" EXACT [NCIT:C5830]
synonym: "neoplasm of hypoglossal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "neoplasm of the hypoglossal nerve" EXACT [NCIT:C5830]
synonym: "neoplasm of the twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "neoplasm of twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "tumor of hypoglossal nerve" EXACT [DOID:3198, MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "tumor of the hypoglossal nerve" EXACT [NCIT:C5830]
synonym: "tumor of the twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "tumor of twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve neoplasm" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve neoplasms" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve tumor" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve tumors" EXACT [NCIT:C5830]
synonym: "XIIth cranial nerve neoplasms" EXACT [NCIT:C5830]
synonym: "XIIth cranial nerve tumors" EXACT [NCIT:C5830]
xref: DOID:3198 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5830 {source="DOID:3198", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126978008 {source="DOID:3198", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263903 {source="DOID:3198", source="MONDO:equivalentTo", source="NCIT:C5830"}
is_a: MONDO:0001810 {source="MONDO:Redundant", source="NCIT:C5830", source="OWLReasoner:2017", source="linkedlifedata"} ! hypoglossal nerve disease
is_a: MONDO:0002633 {source="DOID:3198", source="MONDO:Redundant", source="NCIT:C5830", source="linkedlifedata"} ! cranial nerve neoplasm
property_value: exactMatch DOID:3198
property_value: exactMatch http://identifiers.org/snomedct/126978008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263903
property_value: exactMatch NCIT:C5830

[Term]
id: MONDO:0002551
name: c-P angle neurinoma
synonym: "cerebellar Pontine angle neurinoma" EXACT [NCIT:C5413]
synonym: "cerebellopontine angle neurinoma" EXACT [DOID:3199, NCIT:C5413]
synonym: "cerebellopontine angle schwannoma" EXACT [NCIT:C5413]
xref: DOID:3199 {source="MONDO:equivalentTo"}
xref: NCIT:C5413 {source="DOID:3199", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332905 {source="DOID:3199", source="MONDO:equivalentTo", source="NCIT:C5413"}
is_a: MONDO:0002553 {source="DOID:3199", source="NCIT:C5413"} ! cerebellopontine angle tumor
property_value: exactMatch DOID:3199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332905
property_value: exactMatch NCIT:C5413

[Term]
id: MONDO:0002552
name: vascular myelopathy
synonym: "vascular myelopathies" EXACT [DOID:320, ICD9CM_2006:336.1]
xref: COHD:136960 {source="MONDO:equivalentTo"}
xref: DOID:320 {source="MONDO:equivalentTo"}
xref: ICD10:G95.1 {source="MONDO:equivalentTo", source="DOID:320"}
xref: ICD9:336.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:320"}
xref: SCTID:29774004 {source="MONDO:equivalentTo", source="DOID:320", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154685 {source="MONDO:equivalentTo", source="DOID:320"}
is_a: MONDO:0002545 {source="DOID:320", source="linkedlifedata", source="linkedlifedata/inferred"} ! spinal cord disease
property_value: closeMatch http://identifiers.org/snomedct/155018009
property_value: closeMatch http://identifiers.org/snomedct/192896006
property_value: closeMatch http://identifiers.org/snomedct/192903006
property_value: exactMatch DOID:320
property_value: exactMatch http://identifiers.org/snomedct/29774004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154685

[Term]
id: MONDO:0002553
name: cerebellopontine angle tumor
def: "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma." [NCIT:P378]
synonym: "C-P angle neoplasm" EXACT [NCIT:C5414]
synonym: "C-P angle tumor" EXACT [NCIT:C5414]
synonym: "cerebellar Pontine angle neoplasm" EXACT [NCIT:C5414]
synonym: "cerebellar Pontine angle tumor" EXACT [NCIT:C5414]
synonym: "cerebellopontine angle neoplasm" EXACT [NCIT:C5414]
synonym: "cerebellopontine angle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cerebellopontine angle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "neoplasm of C-P angle" EXACT [NCIT:C5414]
synonym: "neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "neoplasm of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "neoplasm of the C-P angle" EXACT [NCIT:C5414]
synonym: "neoplasm of the cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "neoplasm of the cerebellopontine angle" EXACT [DOID:3200, NCIT:C5414]
synonym: "tumor of C-P angle" EXACT [NCIT:C5414]
synonym: "tumor of cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "tumor of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "tumor of the C-P angle" EXACT [NCIT:C5414]
synonym: "tumor of the cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "tumor of the cerebellopontine angle" EXACT [NCIT:C5414]
xref: DOID:3200 {source="MONDO:equivalentTo"}
xref: NCIT:C5414 {source="DOID:3200", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:126947009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0021211 ! brain neoplasm
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:3200"} ! brainstem cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474740
property_value: exactMatch DOID:3200
property_value: exactMatch http://identifiers.org/snomedct/126947009
property_value: exactMatch NCIT:C5414

[Term]
id: MONDO:0002554
name: sympathetic neurilemmoma
def: "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus." [NCIT:P378]
synonym: "sympathetic schwannoma" EXACT [NCIT:C5421]
xref: DOID:3201 {source="MONDO:equivalentTo"}
xref: NCIT:C5421 {source="DOID:3201", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336543 {source="DOID:3201", source="MONDO:equivalentTo", source="NCIT:C5421"}
is_a: MONDO:0002366 {source="DOID:3201", source="MONDO:Entailed"} ! autonomic nervous system neoplasm
is_a: MONDO:0002546 {source="DOID:3201", source="NCIT:C5421/inferred"} ! schwannoma
property_value: exactMatch DOID:3201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336543
property_value: exactMatch NCIT:C5421

[Term]
id: MONDO:0002555
name: trigeminal schwannoma
def: "A schwannoma that involves the trigeminal nerve." [MONDO:patterns/location]
synonym: "fifth cranial nerve neurilemmoma" EXACT [NCIT:C4655]
synonym: "fifth cranial nerve schwannoma" EXACT [NCIT:C4655]
synonym: "neurilemmoma of fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of the fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of the trigeminal nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of trigeminal nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of the fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of the trigeminal nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of trigeminal nerve" EXACT [NCIT:C4655]
synonym: "trigeminal nerve schwannoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trigeminal neurilemmoma" EXACT [DOID:3202, NCIT:C4655]
synonym: "trigeminal schwannoma" EXACT [NCIT:C4655]
xref: DOID:3202 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4655 {source="DOID:3202", source="MONDO:equivalentTo"}
xref: SCTID:277185000 {source="DOID:3202", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349582 {source="DOID:3202", source="MONDO:equivalentTo", source="NCIT:C4655"}
is_a: MONDO:0001420 {source="DOID:3202", source="MONDO:Redundant", source="NCIT:C4655", source="linkedlifedata", source="linkedlifedata/inferred"} ! trigeminal nerve neoplasm
is_a: MONDO:0002546 {source="DOID:3202", source="MONDO:Redundant", source="NCIT:C4655", source="linkedlifedata"} ! schwannoma
property_value: exactMatch DOID:3202
property_value: exactMatch http://identifiers.org/snomedct/277185000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349582
property_value: exactMatch NCIT:C4655

[Term]
id: MONDO:0002556
name: microcystic/reticular schwannoma
def: "The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue." [NCIT:C5321]
synonym: "microcystic/reticular schwannoma" EXACT [NCIT:C5321]
xref: NCIT:C5321 {source="DOID:3203", source="MONDO:equivalentTo"}
xref: UMLS:C4054526 {source="MEDGEN:kboom-pr98-c99", source="DOID:3203", source="NCIT:C5321", source="MONDO:equivalentTo"}
is_a: MONDO:0002546 {source="NCIT:C5321"} ! schwannoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054526
property_value: exactMatch NCIT:C5321

[Term]
id: MONDO:0002557
name: obsolete schwannomatosis
is_obsolete: true
replaced_by: MONDO:0008075

[Term]
id: MONDO:0002558
name: melanotic neurilemmoma
def: "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." [NCIT:P378]
synonym: "melanocytic neurilemmoma" EXACT [NCIT:C6970]
synonym: "melanocytic schwannoma" EXACT [NCIT:C6970]
synonym: "melanotic neurinoma" EXACT [NCIT:C6970]
synonym: "melanotic schwannoma" EXACT [NCIT:C6970]
synonym: "melanotic schwannoma (morphologic abnormality)" EXACT [DOID:3205]
synonym: "MSCHW" RELATED [ONCOTREE:MSCHW]
synonym: "pigmented neurilemmoma" EXACT [DOID:3205, NCIT:C6970]
synonym: "pigmented schwannoma" EXACT [DOID:3205]
xref: DOID:3205 {source="MONDO:equivalentTo"}
xref: ICD9:215.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6970 {source="DOID:3205", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:MSCHW {source="MONDO:equivalentTo"}
xref: SCTID:404024000 {source="DOID:3205", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C1306247 {source="NCIT:C6970", source="DOID:3205", source="MONDO:equivalentTo"}
is_a: MONDO:0002546 {source="DOID:3205", source="ONCOTREE:MSCHW"} ! schwannoma
property_value: closeMatch http://identifiers.org/snomedct/253088003
property_value: closeMatch http://identifiers.org/snomedct/985004
property_value: exactMatch DOID:3205
property_value: exactMatch http://identifiers.org/snomedct/404024000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306247
property_value: exactMatch NCIT:C6970

[Term]
id: MONDO:0002559
name: plexiform schwannoma
def: "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." [NCIT:P378]
synonym: "plexiform neurilemmoma" EXACT [DOID:3206]
synonym: "plexiform neurinoma" EXACT [DOID:3206, NCIT:C6969]
synonym: "plexiform schwannoma" EXACT [DOID:3206]
synonym: "plexiform schwannoma (morphologic abnormality)" EXACT [DOID:3206]
xref: DOID:3206 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6969 {source="MONDO:equivalentTo", source="DOID:3206", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:404025004 {source="MONDO:equivalentTo", source="DOID:3206", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1370659 {source="MONDO:equivalentTo", source="DOID:3206", source="NCIT:C6969"}
is_a: MONDO:0002546 {source="DOID:3206", source="NCIT:C6969", source="linkedlifedata"} ! schwannoma
property_value: closeMatch http://identifiers.org/snomedct/253087008
property_value: closeMatch http://identifiers.org/snomedct/985004
property_value: exactMatch DOID:3206
property_value: exactMatch http://identifiers.org/snomedct/404025004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370659
property_value: exactMatch NCIT:C6969

[Term]
id: MONDO:0002560
name: obsolete junctional epidermolysis bullosa
is_obsolete: true
replaced_by: MONDO:0017612

[Term]
id: MONDO:0002561
name: lysosomal storage disease
def: "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." [PMID:21723623]
subset: ordo_group_of_disorders {source="Orphanet:68366"}
synonym: "disorder of lysosomal enzyme" EXACT [DOID:3211]
synonym: "disorder of lysosomal enzymes" EXACT [NCIT:C61250]
synonym: "inborn lysosomal enzyme disorder" EXACT [CSP2005:1849-5878, DOID:3211]
synonym: "lysosomal disease" EXACT [MONDO:0019051]
synonym: "lysosomal disorder" EXACT []
synonym: "lysosomal storage disorder" EXACT [NCIT:C61250]
synonym: "lysosomal storage metabolism disorder" EXACT [DOID:3211]
synonym: "lysosome disease" EXACT []
synonym: "lysosome disorder" EXACT []
synonym: "phospholipidosis" RELATED [NCIT:C61250]
xref: DOID:3211 {source="MONDO:equivalentTo"}
xref: MESH:D016464 {source="DOID:3211", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C61250 {source="DOID:3211", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:68366 {source="MONDO:equivalentTo"}
xref: SCTID:23585005 {source="DOID:3211", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085078 {source="DOID:3211", source="MONDO:equivalentTo", source="NCIT:C61250"}
xref: UMLS:CN205533 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019052 {source="DOID:3211", source="MESH:D016464", source="MONDO:Entailed", source="NCIT:C61250", source="Orphanet:68366", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism
is_a: MONDO:0044969 ! disease of membrane bound organelle
property_value: exactMatch DOID:3211
property_value: exactMatch http://identifiers.org/mesh/D016464
property_value: exactMatch http://identifiers.org/snomedct/23585005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205533
property_value: exactMatch NCIT:C61250
property_value: exactMatch Orphanet:68366

[Term]
id: MONDO:0002562
name: demyelinating disease
def: "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." [NCIT:P378]
synonym: "demyelinating disorder" EXACT [DOID:3213, NCIT:C34527]
xref: DOID:3213 {source="MONDO:equivalentTo"}
xref: ICD10:G35.G37 {source="MONDO:equivalentTo"}
xref: MESH:D003711 {source="DOID:3213", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34527 {source="DOID:3213", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0011303 {source="DOID:3213", source="MONDO:equivalentTo", source="NCIT:C34527"}
is_a: MONDO:0005559 {source="DOID:3213", source="MONDO:Redundant", source="NCIT:C34527"} ! neurodegenerative disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch DOID:3213
property_value: exactMatch http://identifiers.org/mesh/D003711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011303
property_value: exactMatch NCIT:C34527

[Term]
id: MONDO:0002563
name: jejunal somatostatinoma
def: "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378]
synonym: "Delta cell tumor of jejunum" EXACT [NCIT:C5787]
synonym: "Delta cell tumor of the jejunum" EXACT [NCIT:C5787]
synonym: "jejunal delta cell somatostatin producing tumor" EXACT [DOID:3216]
synonym: "jejunal somatostatin producing tumor" EXACT [NCIT:C5787]
synonym: "jejunal somatostatin-producing NET" EXACT [NCIT:C5787]
synonym: "jejunal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C5787]
synonym: "Somatosatinoma of jejunum" EXACT [DOID:3216, NCIT:C5787]
synonym: "Somatosatinoma of the jejunum" EXACT [NCIT:C5787]
xref: DOID:3216 {source="MONDO:equivalentTo"}
xref: NCIT:C5787 {source="DOID:3216", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334297 {source="DOID:3216", source="MONDO:equivalentTo", source="NCIT:C5787"}
is_a: MONDO:0015064 {source="NCIT:C5787"} ! jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0006815 {source="DOID:3216"} ! jejunal cancer
property_value: exactMatch DOID:3216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334297
property_value: exactMatch NCIT:C5787

[Term]
id: MONDO:0002564
name: jejunal neoplasm
def: "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378]
synonym: "jejunal tumor" EXACT [DOID:3218, NCIT:C8401]
synonym: "jejunum neoplasm" EXACT []
synonym: "jejunum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jejunum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm]
synonym: "neoplasm of the jejunum" EXACT [NCIT:C8401]
synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm]
synonym: "tumor of the jejunum" EXACT [NCIT:C8401]
xref: DOID:3218 {source="MONDO:equivalentTo"}
xref: MESH:D007580 {source="MONDO:equivalentTo", source="DOID:3218"}
xref: NCIT:C8401 {source="MONDO:equivalentTo", source="DOID:3218", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:126834003 {source="MONDO:equivalentTo", source="DOID:3218", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022374 {source="NCIT:C8401", source="MONDO:equivalentTo", source="DOID:3218"}
is_a: MONDO:0004251 {source="DOID:3218", source="MONDO:Redundant", source="NCIT:C8401", source="linkedlifedata"} ! small intestine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/254575004
property_value: exactMatch DOID:3218
property_value: exactMatch http://identifiers.org/mesh/D007580
property_value: exactMatch http://identifiers.org/snomedct/126834003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022374
property_value: exactMatch NCIT:C8401

[Term]
id: MONDO:0002565
name: myelitis
def: "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." [NCIT:P378]
subset: gard_rare {source="GARD:0007130"}
synonym: "inflammation of spinal cord" EXACT []
synonym: "spinal cord inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:138965 {source="MONDO:equivalentTo"}
xref: DOID:322 {source="MONDO:equivalentTo"}
xref: EFO:1001472 {source="MONDO:equivalentTo"}
xref: GARD:0007130 {source="MONDO:equivalentTo"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009187 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:322"}
xref: NCIT:C26832 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:322"}
xref: SCTID:41370002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:322"}
xref: UMLS:C0026975 {source="MONDO:equivalentTo", source="NCIT:C26832", source="DOID:322"}
is_a: MONDO:0002545 {source="DOID:322", source="MESH:D009187", source="MONDO:Redundant", source="linkedlifedata"} ! spinal cord disease
is_a: MONDO:0005156 ! encephalomyelitis
property_value: closeMatch http://identifiers.org/snomedct/192682002
property_value: closeMatch http://identifiers.org/snomedct/267682000
property_value: exactMatch DOID:322
property_value: exactMatch http://identifiers.org/mesh/D009187
property_value: exactMatch http://identifiers.org/snomedct/41370002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026975
property_value: exactMatch NCIT:C26832
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7130/myelitis xsd:anyURI {source="GARD:0007130"}

[Term]
id: MONDO:0002566
name: obsolete complex regional pain syndrome
is_obsolete: true
replaced_by: MONDO:0019369

[Term]
id: MONDO:0002567
name: tracheal disease
def: "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." [NCIT:P378]
synonym: "disease of trachea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trachea" EXACT []
synonym: "disorder of trachea" EXACT [MONDO:patterns/location_top, NCIT:C35079]
synonym: "disorder of trachea" RELATED [MONDO:patterns/location_top]
synonym: "trachea disease" EXACT [MONDO:patterns/location]
synonym: "trachea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tracheal disorder" EXACT [NCIT:C35079]
xref: DOID:3225 {source="MONDO:equivalentTo"}
xref: ICD10:S12.8 {source="DOID:3225"}
xref: MESH:D014133 {source="DOID:3225", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35079 {source="DOID:3225", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:47125007 {source="DOID:3225", source="MONDO:equivalentTo"}
xref: UMLS:C0040580 {source="DOID:3225", source="MONDO:equivalentTo", source="NCIT:C35079"}
is_a: MONDO:0000270 ! lower respiratory tract disease
is_a: MONDO:0004867 {source="DOID:3225"} ! upper respiratory tract disease
property_value: exactMatch DOID:3225
property_value: exactMatch http://identifiers.org/mesh/D014133
property_value: exactMatch http://identifiers.org/snomedct/47125007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040580
property_value: exactMatch NCIT:C35079

[Term]
id: MONDO:0002568
name: tracheal stenosis
def: "Narrowing of the lumen of the trachea." [NCIT:P378]
synonym: "stenosis of trachea" EXACT [DOID:3227]
xref: DOID:3227 {source="MONDO:equivalentTo"}
xref: ICD9:519.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014135 {source="DOID:3227", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:11296007 {source="DOID:3227", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040583 {source="DOID:3227", source="MONDO:equivalentTo"}
is_a: MONDO:0002567 {source="DOID:3227", source="MESH:D014135", source="linkedlifedata"} ! tracheal disease
property_value: exactMatch DOID:3227
property_value: exactMatch http://identifiers.org/mesh/D014135
property_value: exactMatch http://identifiers.org/snomedct/11296007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040583
property_value: exactMatch NCIT:C78646

[Term]
id: MONDO:0002569
name: gastric dilatation
def: "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." [MESH:D013271]
synonym: "stomach dilatation" EXACT [CSP2005:1248-7212, DOID:3229]
xref: DOID:3229 {source="MONDO:equivalentTo"}
xref: MESH:D013271 {source="MONDO:equivalentTo", source="DOID:3229", source="MONDO:ontobio"}
xref: UMLS:C0038353 {source="MONDO:equivalentTo", source="DOID:3229"}
is_a: MONDO:0004298 {source="DOID:3229", source="MESH:D013271"} ! stomach disease
property_value: exactMatch DOID:3229
property_value: exactMatch http://identifiers.org/mesh/D013271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038353

[Term]
id: MONDO:0002570
name: high pressure neurological syndrome
def: "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." [MESH:D006610]
xref: DOID:3230 {source="MONDO:equivalentTo"}
xref: MESH:D006610 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3230"}
xref: UMLS:C0019537 {source="MONDO:equivalentTo", source="DOID:3230"}
is_a: MONDO:0002602 {source="DOID:3230", source="MESH:D006610"} ! central nervous system disease
property_value: exactMatch DOID:3230
property_value: exactMatch http://identifiers.org/mesh/D006610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019537

[Term]
id: MONDO:0002571
name: primary central nervous system lymphoma
alt_id: MONDO:0018732
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." [NCIT:C9301]
subset: ordo_disease {source="Orphanet:46135"}
synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301]
synonym: "CNS lymphoma" EXACT [NCIT:C9301]
synonym: "lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "malignant lymphomas of CNS" EXACT [NCIT:C9301]
synonym: "malignant lymphomas of the CNS" EXACT [NCIT:C9301]
synonym: "microglioma" EXACT [DOID:3234, https://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma]
synonym: "PCNSL" EXACT [NCIT:C9301, Orphanet:46135]
synonym: "primary brain lymphoma" EXACT [Orphanet:46135]
synonym: "primary central nervous system lymphoma" EXACT [NCIT:C9301]
synonym: "primary CNS lymphoma" EXACT [DOID:3234, NCIT:C9301, Orphanet:46135]
synonym: "primary lymphoma, CNS" RELATED [GARD:0009318]
xref: COHD:373152 {source="MONDO:equivalentTo"}
xref: DOID:3234 {source="MONDO:equivalentTo"}
xref: EFO:1000157 {source="MONDO:equivalentTo"}
xref: GARD:0009318 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C83.3 {source="ORDO:46135/ntbt", source="Orphanet:46135"}
xref: ICD9:200.5 {source="DOID:3234"}
xref: MedDRA:10036685 {source="ORDO:46135/e", source="Orphanet:46135"}
xref: NCIT:C9301 {source="DOID:3234", source="ONCOTREE:PCNSL", source="EFO:1000157", source="MONDO:equivalentTo"}
xref: ONCOTREE:PCNSL {source="MONDO:equivalentTo"}
xref: Orphanet:46135 {source="MONDO:equivalentTo"}
xref: SCTID:307649006 {source="DOID:3234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21", source="MONDO:directSiblingOf"}
xref: UMLS:C0742472 {source="DOID:3234", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0002714 {source="DOID:3234/inferred", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer
is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm
is_a: MONDO:0004949 {source="ONCOTREE:PCNSL"} ! neoplasm of mature B-cells
is_a: MONDO:0017207 {source="Orphanet:46135"} ! primary organ-specific lymphoma
is_a: MONDO:0017343 {source="Orphanet:46135"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: closeMatch http://identifiers.org/snomedct/190006007
property_value: closeMatch http://identifiers.org/snomedct/21964009
property_value: closeMatch http://identifiers.org/snomedct/69110006
property_value: exactMatch DOID:3234
property_value: exactMatch http://identifiers.org/meddra/10036685
property_value: exactMatch http://identifiers.org/snomedct/307649006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742472
property_value: exactMatch NCIT:C9301
property_value: exactMatch Orphanet:46135

[Term]
id: MONDO:0002572
name: aspiration pneumonitis
def: "Inflammation of the lungs due to the inhalation of solid or liquid material." [NCIT:C34932]
synonym: "aspiration pneumonia" EXACT [NCIT:C34932]
synonym: "chemical pneumonitis" EXACT [DOID:3240]
synonym: "Mendelson's syndrome" EXACT EXCLUDE [DOID:3240]
xref: DOID:3240 {source="MONDO:equivalentTo"}
xref: ICD10:J69.0 {source="DOID:3240"}
xref: NCIT:C34932 {source="MONDO:kboom-pr-0.89/0.77/0.13", source="MONDO:equivalentTo"}
xref: SCTID:155597006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C1761609 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0043905 {source="NCIT:C34932", source="linkedlifedata"} ! pneumonitis
relationship: excluded_subClassOf MONDO:0005249 {source="DOID:3240"} ! pneumonia
property_value: closeMatch http://identifiers.org/snomedct/47839005
property_value: exactMatch DOID:3240
property_value: exactMatch http://identifiers.org/snomedct/155597006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1761609
property_value: exactMatch NCIT:C34932

[Term]
id: MONDO:0002573
name: obsolete pleomorphic rhabdomyosarcoma
is_obsolete: true
replaced_by: MONDO:0017386

[Term]
id: MONDO:0002574
name: prostate embryonal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features." [NCIT:C5525]
synonym: "embryonal rhabdomyosarcoma (disease) of prostate gland" EXACT []
synonym: "embryonal rhabdomyosarcoma of prostate" EXACT [NCIT:C5525]
synonym: "embryonal rhabdomyosarcoma of the prostate" EXACT [DOID:3251, NCIT:C5525]
synonym: "prostate embryonal rhabdomyosarcoma" EXACT [NCIT:C5525]
synonym: "prostate gland embryonal rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:3251 {source="MONDO:equivalentTo"}
xref: NCIT:C5525 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3251"}
xref: UMLS:C1335508 {source="MONDO:equivalentTo", source="NCIT:C5525", source="DOID:3251"}
is_a: MONDO:0006389 {source="DOID:3251", source="MONDO:Redundant", source="MONDOLEX:0002574", source="NCIT:C5525"} ! prostate rhabdomyosarcoma
is_a: MONDO:0009993 {source="DOID:3251", source="MONDO:Redundant", source="MONDOLEX:0002574", source="NCIT:C5525"} ! embryonal rhabdomyosarcoma (disease)
property_value: exactMatch DOID:3251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335508
property_value: exactMatch NCIT:C5525

[Term]
id: MONDO:0002575
name: obsolete prostate rhabdomyosarcoma
is_obsolete: true
replaced_by: MONDO:0006389

[Term]
id: MONDO:0002576
name: embryonal extrahepatic bile duct rhabdomyosarcoma
def: "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts." [NCIT:P378]
synonym: "embryonal extrahepatic bile duct rhabdomyosarcoma" EXACT [DOID:3253, NCIT:C5847]
synonym: "embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct" EXACT []
synonym: "embryonal rhabdomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5847]
synonym: "embryonal rhabdomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5847]
synonym: "extrahepatic bile duct embryonal rhabdomyosarcoma" EXACT [NCIT:C5847]
synonym: "extrahepatic bile duct embryonal rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:3253 {source="MONDO:equivalentTo"}
xref: NCIT:C5847 {source="DesignPattern", source="DOID:3253", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333505 {source="DOID:3253", source="MONDO:equivalentTo", source="NCIT:C5847"}
is_a: MONDO:0002577 {source="DOID:3253", source="MONDO:Redundant", source="MONDOLEX:0002576", source="NCIT:C5847"} ! extrahepatic bile duct rhabdomyosarcoma
is_a: MONDO:0009993 {source="MONDO:Redundant", source="MONDOLEX:0002576", source="NCIT:C5847"} ! embryonal rhabdomyosarcoma (disease)
property_value: exactMatch DOID:3253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333505
property_value: exactMatch NCIT:C5847

[Term]
id: MONDO:0002577
name: extrahepatic bile duct rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." [NCIT:C5860]
synonym: "bile duct rhabdomyosarcoma" RELATED [DOID:3254]
synonym: "bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct rhabdomyosarcoma" EXACT [NCIT:C5860]
synonym: "extrahepatic bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of extrahepatic bile duct" EXACT []
synonym: "rhabdomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5860]
synonym: "rhabdomyosarcoma of the bile duct" EXACT [DOID:3254, NCIT:C5860]
synonym: "rhabdomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5860]
xref: DOID:3254 {source="MONDO:equivalentTo"}
xref: NCIT:C5860 {source="DOID:3254", source="MONDO:equivalentTo"}
xref: UMLS:C2064434 {source="DOID:3254", source="MEDGEN:kboom-pr98-c99", source="NCIT:C5860", source="MONDO:equivalentTo"}
is_a: MONDO:0002849 ! liver rhabdomyosarcoma
is_a: MONDO:0024658 {source="MONDO:Redundant", source="MONDOLEX:0002577", source="NCIT:C5860"} ! extrahepatic bile duct sarcoma
property_value: exactMatch DOID:3254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2064434
property_value: exactMatch NCIT:C5860

[Term]
id: MONDO:0002578
name: botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:P378]
synonym: "botryoid sarcoma" EXACT [NCIT:C9150]
synonym: "botryoid sarcoma (morphologic abnormality)" EXACT [DOID:3255]
synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT [DOID:3255, NCIT:C9150]
synonym: "sarcoma botryoides" EXACT [DOID:3255]
xref: DOID:3255 {source="MONDO:equivalentTo"}
xref: GARD:0009398 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9150 {source="DOID:3255", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.84"}
xref: SCTID:404052009 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="DOID:3255", source="MONDO:equivalentTo"}
xref: UMLS:C1306573 {source="MEDGEN:kboom-pr98-c99", source="DOID:3255", source="MONDO:equivalentTo", source="NCIT:C9150"}
xref: UMLS:C1306574 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009993 {source="DOID:3255", source="MONDOLEX:0002578", source="NCIT:C9150"} ! embryonal rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/14269005
property_value: closeMatch http://identifiers.org/snomedct/405943005
property_value: exactMatch DOID:3255
property_value: exactMatch http://identifiers.org/snomedct/404052009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306573
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306574
property_value: exactMatch NCIT:C9150

[Term]
id: MONDO:0002579
name: orbit embryonal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." [NCIT:P378]
synonym: "embryonal rhabdomyosarcoma of orbit" EXACT [NCIT:C6246]
synonym: "embryonal rhabdomyosarcoma of the orbit" EXACT [DOID:3258, NCIT:C6246]
xref: DOID:3258 {source="MONDO:equivalentTo"}
xref: NCIT:C6246 {source="DOID:3258", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335127 {source="DOID:3258", source="MONDO:equivalentTo", source="NCIT:C6246"}
is_a: MONDO:0002580 {source="DOID:3258", source="MONDO:Redundant", source="MONDOLEX:0002579", source="NCIT:C6246"} ! orbit rhabdomyosarcoma
is_a: MONDO:0009993 {source="MONDO:Redundant", source="MONDOLEX:0002579", source="NCIT:C6246"} ! embryonal rhabdomyosarcoma (disease)
intersection_of: MONDO:0002580 {source="NCIT:C6246"} ! orbit rhabdomyosarcoma
intersection_of: MONDO:0009993 {source="NCIT:C6246"} ! embryonal rhabdomyosarcoma (disease)
property_value: exactMatch DOID:3258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335127
property_value: exactMatch NCIT:C6246

[Term]
id: MONDO:0002580
name: orbit rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit." [NCIT:P378]
synonym: "orbital region rhabdomyosarcoma" EXACT []
synonym: "orbital region rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of orbital region" EXACT []
synonym: "rhabdomyosarcoma of orbit" EXACT [NCIT:C4543]
synonym: "rhabdomyosarcoma of the orbit" EXACT [DOID:3259, NCIT:C4543]
xref: DOID:3259 {source="MONDO:equivalentTo"}
xref: MESH:C537605 {source="MONDO:equivalentTo", source="DOID:3259", source="MONDO:ontobio"}
xref: NCIT:C4543 {source="MONDO:equivalentTo", source="DOID:3259", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254994000 {source="MONDO:equivalentTo", source="DOID:3259", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346347 {source="MONDO:equivalentTo", source="DOID:3259", source="NCIT:C4543"}
is_a: MONDO:0004943 {source="DOID:3259", source="MONDOLEX:0002580", source="NCIT:C4543", source="linkedlifedata"} ! orbit sarcoma
is_a: MONDO:0005212 ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:3259
property_value: exactMatch http://identifiers.org/mesh/C537605
property_value: exactMatch http://identifiers.org/snomedct/254994000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346347
property_value: exactMatch NCIT:C4543

[Term]
id: MONDO:0002581
name: spindle cell rhabdomyosarcoma
def: "An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck." [NCIT:C6519]
synonym: "SCRMS" RELATED [ONCOTREE:SCRMS]
synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:3260]
xref: DOID:3260 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8912/3 {source="NCIT:C6519"}
xref: NCIT:C6519 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3260"}
xref: ONCOTREE:SCRMS {source="MONDO:equivalentTo"}
xref: SCTID:404055006 {source="MONDO:equivalentTo", source="DOID:3260", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1266134 {source="MONDO:equivalentTo", source="DOID:3260", source="NCIT:C6519"}
is_a: MONDO:0002927 ! spindle cell sarcoma
is_a: MONDO:0005212 {source="DOID:3260/inferred", source="NCIT:C6519/inferred", source="ONCOTREE:SCRMS", source="linkedlifedata"} ! rhabdomyosarcoma (disease)
relationship: excluded_subClassOf MONDO:0009993 {source="DOID:3260"} ! embryonal rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128749008
property_value: exactMatch DOID:3260
property_value: exactMatch http://identifiers.org/snomedct/404055006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266134
property_value: exactMatch NCIT:C6519

[Term]
id: MONDO:0002582
name: subacute leukemia
def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." [DOID:3264, http://www.wrongdiagnosis.com/medical/subacute.htm]
xref: DOID:3264 {source="MONDO:equivalentTo"}
xref: ICD9:208.2 {source="DOID:3264"}
xref: ICD9:208.20 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:302855005 {source="DOID:3264", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153924 {source="DOID:3264", source="MONDO:equivalentTo"}
is_a: MONDO:0005059 {source="DOID:3264", source="linkedlifedata"} ! leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/154601003
property_value: closeMatch http://identifiers.org/snomedct/188765000
property_value: closeMatch http://identifiers.org/snomedct/190026006
property_value: closeMatch http://identifiers.org/snomedct/49432002
property_value: closeMatch http://identifiers.org/snomedct/95272003
property_value: exactMatch DOID:3264
property_value: exactMatch http://identifiers.org/snomedct/302855005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153924

[Term]
id: MONDO:0002583
name: mucinous ovarian cystadenoma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells." [NCIT:C4512]
synonym: "benign mucinous cystadenoma of ovary" EXACT [NCIT:C4512]
synonym: "benign mucinous cystadenoma of the ovary" EXACT [NCIT:C4512]
synonym: "benign ovarian mucinous cystadenoma" EXACT [NCIT:C4512]
synonym: "mucinous cystadenoma of ovary" EXACT [NCIT:C4512]
synonym: "mucinous cystadenoma of the ovary" EXACT [NCIT:C4512]
synonym: "ovarian mucinous cystadenoma" EXACT [DOID:3267, NCIT:C4512]
synonym: "ovary mucinous cystadenoma" EXACT [MONDO:patterns/location]
xref: DOID:3267 {source="MONDO:equivalentTo"}
xref: NCIT:C4512 {source="DOID:3267", source="MONDO:equivalentTo"}
xref: SCTID:119422004 {source="DOID:3267", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346172 {source="DOID:3267", source="MONDO:equivalentTo", source="NCIT:C4512"}
is_a: MONDO:0005183 {source="DOID:3267", source="MONDO:Redundant", source="MONDOLEX:0002583", source="NCIT:C4512"} ! ovarian cystadenoma
is_a: MONDO:0006859 {source="MONDO:Redundant", source="MONDOLEX:0002583", source="NCIT:C4512"} ! mucinous cystadenoma
property_value: exactMatch DOID:3267
property_value: exactMatch http://identifiers.org/snomedct/119422004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346172
property_value: exactMatch NCIT:C4512

[Term]
id: MONDO:0002584
name: obsolete syringomyelia
is_obsolete: true
replaced_by: MONDO:0017987

[Term]
id: MONDO:0002585
name: breast fibrocystic change, proliferative type
def: "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." [NCIT:C6940]
synonym: "benign proliferative breast disease" EXACT [NCIT:C6940]
synonym: "breast fibrocystic change, proliferative type" EXACT [NCIT:C6940]
synonym: "fibrocystic change, proliferative type with atypia" EXACT [DOID:3274]
synonym: "fibrocystic disease, proliferative type with atypia" EXACT [DOID:3274]
synonym: "proliferating lesion of breast without atypia" EXACT [DOID:3274]
synonym: "proliferating lesion of the breast without atypia" EXACT [DOID:3274]
synonym: "proliferative breast disease" EXACT [NCIT:C6940]
synonym: "proliferative breast lesion" EXACT [NCIT:C6940]
synonym: "proliferative fibrocystic change" BROAD [DOID:3274]
synonym: "proliferative fibrocystic change" EXACT [NCIT:C6940]
synonym: "proliferative type fibrocystic change of breast" EXACT [NCIT:C6940]
synonym: "proliferative type fibrocystic change of the breast" EXACT [NCIT:C6940]
xref: DOID:3274 {source="MONDO:equivalentTo"}
xref: NCIT:C6940 {source="MONDO:equivalentTo"}
xref: UMLS:C0334056 {source="MONDO:equivalentTo", source="DOID:3274"}
is_a: MONDO:0005219 {source="DOID:3274", source="NCIT:C6940"} ! breast fibrocystic disease
property_value: closeMatch http://identifiers.org/snomedct/35813005
property_value: closeMatch NCIT:C8365
property_value: exactMatch DOID:3274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334056
property_value: exactMatch NCIT:C6940

[Term]
id: MONDO:0002586
name: thymus cancer
def: "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." [NCIT:C4962]
synonym: "cancer of the Thymus" EXACT [NCIT:C4962]
synonym: "cancer of Thymus" EXACT [NCIT:C4962]
synonym: "cancer of thymus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Thymus" EXACT [NCIT:C4962]
synonym: "malignant neoplasm of Thymus" EXACT [NCIT:C4962]
synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer]
synonym: "malignant Thymus neoplasm" EXACT [NCIT:C4962]
synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Thymus tumor" EXACT [NCIT:C4962]
synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962]
synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962]
synonym: "neoplasm of thymus" EXACT EXCLUDE [DOID:3277]
synonym: "thymic neoplasm" BROAD [CSP2005:2004-8826, DOID:3277]
synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412]
synonym: "Thymus cancer" EXACT [NCIT:C4962]
synonym: "thymus cancer" EXACT [MONDO:patterns/location]
xref: COHD:443380 {source="MONDO:equivalentTo"}
xref: DOID:3277 {source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="DOID:3277"}
xref: ICD9:164.0 {source="DOID:3277", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4962 {source="DOID:3277", source="MONDO:equivalentTo"}
xref: SCTID:363434003 {source="DOID:3277", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.75/0.79"}
xref: UMLS:C0751552 {source="DOID:3277", source="MONDO:equivalentTo", source="NCIT:C4962"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0003274 ! thoracic cancer
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C4962", source="OWLReasoner:2017", source="linkedlifedata"} ! thymus neoplasm
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D013953
property_value: closeMatch http://identifiers.org/snomedct/94096009
property_value: exactMatch DOID:3277
property_value: exactMatch http://identifiers.org/snomedct/363434003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751552
property_value: exactMatch NCIT:C4962

[Term]
id: MONDO:0002587
name: encapsulated thymoma
def: "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." [NCIT:C7386]
synonym: "encapsulated thymoma" EXACT [NCIT:C7386]
xref: DOID:3278 {source="MONDO:equivalentTo"}
xref: NCIT:C7386 {source="DOID:3278", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333383 {source="DOID:3278", source="NCIT:C7386", source="MONDO:equivalentTo"}
is_a: MONDO:0006456 {source="DOID:3278", source="MONDOLEX:0002587", source="NCIT:C7386"} ! thymoma (disease)
property_value: exactMatch DOID:3278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333383
property_value: exactMatch NCIT:C7386

[Term]
id: MONDO:0002588
name: thymoma type A
def: "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." [NCIT:C6454]
subset: ordo_histopathological_subtype {source="Orphanet:263310"}
synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454]
synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310]
synonym: "primary thymic epithelial tumor type A" EXACT [Orphanet:263310]
synonym: "spindle cell thymoma" EXACT [NCIT:C6454]
synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454]
synonym: "thymoma, medullary" EXACT [DOID:3279]
xref: DOID:3279 {source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="Orphanet:263310", source="ORDO:263310/ntbt"}
xref: ICD10:D15.0 {source="MONDO:relatedTo", source="Orphanet:263310", source="ORDO:263310/ntbt"}
xref: ICDO:8581/1 {source="NCIT:C6454"}
xref: NCIT:C6454 {source="DOID:3279", source="MONDO:equivalentTo"}
xref: Orphanet:263310 {source="MONDO:equivalentTo"}
xref: UMLS:C1266091 {source="NCIT:C6454", source="Orphanet:263310", source="DOID:3279", source="ORDO:263310/e", source="MONDO:equivalentTo"}
is_a: MONDO:0006456 {source="DOID:3279", source="MONDOLEX:0002588", source="NCIT:C6454", source="Orphanet:263310"} ! thymoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128707003
property_value: exactMatch DOID:3279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266091
property_value: exactMatch NCIT:C6454
property_value: exactMatch Orphanet:263310

[Term]
id: MONDO:0002589
name: obsolete thymoma type AB
is_obsolete: true
replaced_by: MONDO:0016975

[Term]
id: MONDO:0002590
name: combined thymoma
xref: DOID:3281 {source="MONDO:equivalentTo"}
is_a: MONDO:0006456 {source="DOID:3281", source="MONDOLEX:0002590"} ! thymoma (disease)
property_value: exactMatch DOID:3281

[Term]
id: MONDO:0002591
name: obsolete dendritic cell thymoma
is_obsolete: true
replaced_by: MONDO:0016974

[Term]
id: MONDO:0002592
name: invasive malignant thymoma
def: "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." [NCIT:C7904]
synonym: "infiltrating thymoma" EXACT [DOID:3283, NCIT:C6453]
synonym: "invasive malignant thymoma" EXACT [NCIT:C7904]
synonym: "malignant thymoma, invasive" EXACT [NCIT:C7904]
synonym: "thymoma malignant invasive" EXACT [DOID:3283, NCIT:C7904]
xref: DOID:3283 {source="MONDO:equivalentTo"}
xref: NCIT:C7904 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo", source="DOID:3283"}
xref: UMLS:C0278846 {source="MONDO:equivalentTo", source="DOID:3283", source="NCIT:C7904"}
is_a: MONDO:0006451 ! thymic carcinoma
is_a: MONDO:0006456 {source="DOID:3283", source="MONDO:Redundant", source="MONDOLEX:0002592", source="NCIT:C7904/inferred"} ! thymoma (disease)
is_a: MONDO:0040677 ! invasive carcinoma
property_value: closeMatch NCIT:C6453
property_value: exactMatch DOID:3283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278846
property_value: exactMatch NCIT:C7904

[Term]
id: MONDO:0002593
name: obsolete thymic carcinoma
is_obsolete: true
replaced_by: MONDO:0020515

[Term]
id: MONDO:0002594
name: monkeypox
def: "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." [NCIT:C128421]
subset: gard_rare {source="GARD:0010722"}
synonym: "infections, Monkeypox virus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Monkeypox virus infection" EXACT [GARD:0010722, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:3292 {source="MONDO:equivalentTo"}
xref: GARD:0010722 {source="MONDO:equivalentTo"}
xref: ICD10:B04 {source="MONDO:equivalentTo", source="DOID:3292"}
xref: ICD9:059.01 {source="DOID:3292"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D045908 {source="MONDO:equivalentTo", source="DOID:3292", source="MONDO:ontobio"}
xref: NCIT:C128421 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:359814004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3292"}
xref: UMLS:C0276180 {source="NCIT:C128421", source="MONDO:equivalentTo", source="DOID:3292"}
is_a: MONDO:0005108 {source="DOID:3292", source="MESH:D045908/inferred", source="MONDO:Redundant", source="MONDOLEX:0002594", source="NCIT:C128421", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186582008
property_value: closeMatch http://identifiers.org/snomedct/240466002
property_value: closeMatch http://identifiers.org/snomedct/25157001
property_value: closeMatch http://identifiers.org/snomedct/359811007
property_value: exactMatch DOID:3292
property_value: exactMatch http://identifiers.org/mesh/D045908
property_value: exactMatch http://identifiers.org/snomedct/359814004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276180
property_value: exactMatch NCIT:C128421
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10722/monkeypox xsd:anyURI {source="GARD:0010722"}

[Term]
id: MONDO:0002595
name: vaccinia
def: "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." [MESH:D014615]
xref: DOID:3298 {source="MONDO:equivalentTo"}
xref: ICD9:999.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014615 {source="DOID:3298", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:111852003 {source="DOID:3298", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0042214 {source="DOID:3298", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:3298", source="MESH:D014615/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: exactMatch DOID:3298
property_value: exactMatch http://identifiers.org/mesh/D014615
property_value: exactMatch http://identifiers.org/snomedct/111852003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042214

[Term]
id: MONDO:0002596
name: obsolete chordoma
is_obsolete: true
replaced_by: MONDO:0008978

[Term]
id: MONDO:0002597
name: notochordal tumor
def: "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." [NCIT:C7063]
synonym: "cancer of notochord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of notochord" EXACT [MONDO:patterns/cancer]
synonym: "malignant notochord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of notochord" EXACT [MONDO:patterns/neoplasm]
synonym: "notochord cancer" EXACT [MONDO:patterns/location]
synonym: "notochord neoplasm" EXACT []
synonym: "notochord tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "notochordal cancer" RELATED [DOID:3303]
synonym: "notochordal neoplasm" EXACT [NCIT:C7063]
synonym: "notochordal tumor" EXACT [DOID:3303, NCIT:C7063]
synonym: "tumor of notochord" EXACT [MONDO:patterns/neoplasm]
xref: DOID:3303 {source="MONDO:equivalentTo"}
xref: NCIT:C7063 {source="MONDO:equivalentTo", source="DOID:3303"}
xref: UMLS:C1335069 {source="MONDO:equivalentTo", source="DOID:3303", source="NCIT:C7063"}
is_a: MONDO:0005564 {source="NCIT:C7063"} ! embryonal neoplasm
is_a: MONDO:0019060 {source="NCIT:C7063"} ! bone neoplasm
relationship: excluded_subClassOf MONDO:0002129 {source="DOID:3303"} ! bone cancer
property_value: exactMatch DOID:3303
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335069
property_value: exactMatch NCIT:C7063

[Term]
id: MONDO:0002598
name: germinoma (disease)
def: "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes." [NCIT:P378]
synonym: "germinoma" EXACT [MONDO:ambiguous, NCIT:C3753]
xref: DOID:3304 {source="MONDO:equivalentTo"}
xref: HP:0100620 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9064/3 {source="NCIT:C3753"}
xref: MESH:D018237 {source="DOID:3304", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3753 {source="DOID:3304", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: ONCOTREE:GMN {source="MONDO:equivalentTo"}
xref: UMLS:C0206660 {source="MEDGEN:kboom-pr98-c99", source="DOID:3304", source="MONDO:equivalentTo", source="NCIT:C3753"}
is_a: MONDO:0006290 {source="NCIT:C3753"} ! malignant germ cell tumor
is_a: MONDO:0020580 ! germinomatous germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/154603000
property_value: closeMatch http://identifiers.org/snomedct/28307001
property_value: exactMatch DOID:3304
property_value: exactMatch http://identifiers.org/mesh/D018237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206660
property_value: exactMatch NCIT:C3753

[Term]
id: MONDO:0002599
name: teratocarcinoma
def: "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component." [NCIT:P378]
synonym: "mixed embryonal carcinoma and teratoma" EXACT [DOID:3305, NCIT:C3756]
synonym: "teratocarcinoma" EXACT [NCIT:C3756]
synonym: "teratocarcinoma (morphologic abnormality)" EXACT [DOID:3305]
xref: DOID:3305 {source="MONDO:equivalentTo"}
xref: ICDO:9081/3 {source="NCIT:C3756"}
xref: MESH:D018243 {source="MONDO:equivalentTo", source="DOID:3305", source="MONDO:ontobio"}
xref: NCIT:C3756 {source="MONDO:equivalentTo", source="DOID:3305", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206664 {source="MONDO:equivalentTo", source="DOID:3305", source="NCIT:C3756"}
is_a: MONDO:0015864 {source="DOID:3305", source="NCIT:C3756"} ! mixed germ cell tumor
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:3305", source="MESH:D018243"} ! obsolete germ cell and embryonal cancer
property_value: closeMatch http://identifiers.org/snomedct/67830002
property_value: exactMatch DOID:3305
property_value: exactMatch http://identifiers.org/mesh/D018243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206664
property_value: exactMatch NCIT:C3756

[Term]
id: MONDO:0002600
name: obsolete mixed germ cell cancer
is_obsolete: true
replaced_by: MONDO:0015864

[Term]
id: MONDO:0002601
name: teratoma
def: "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C3403]
synonym: "teratoma" EXACT [NCIT:C3403]
xref: DOID:3307 {source="MONDO:equivalentTo"}
xref: ICDO:9080/1 {source="NCIT:C3403"}
xref: MESH:D013724 {source="MONDO:equivalentTo", source="DOID:3307"}
xref: NCIT:C3403 {source="MONDO:equivalentTo", source="DOID:3307"}
xref: ONCOTREE:TT {source="MONDO:equivalentTo"}
xref: SCTID:36591000119102 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0021656 {source="NCIT:C3403", source="ONCOTREE:TT"} ! nongerminomatous germ cell tumor
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:3307", source="MESH:D013724"} ! obsolete germ cell and embryonal cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0018080"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/189844009
property_value: closeMatch http://identifiers.org/snomedct/189846006
property_value: closeMatch http://identifiers.org/snomedct/189848007
property_value: closeMatch http://identifiers.org/snomedct/55818009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451
property_value: exactMatch DOID:3307
property_value: exactMatch http://identifiers.org/mesh/D013724
property_value: exactMatch http://identifiers.org/snomedct/36591000119102
property_value: exactMatch NCIT:C3403

[Term]
id: MONDO:0002602
name: central nervous system disease
def: "A disease involving the central nervous system." [MONDO:DesignPattern]
synonym: "central nervous disease" EXACT [DOID:331]
synonym: "central nervous system disease" EXACT [MONDO:patterns/location, NCIT:C2934]
synonym: "central nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central nervous system disorder" EXACT [NCIT:C2934]
synonym: "disease of central nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of central nervous system" EXACT []
synonym: "disorder of central nervous system" EXACT [MONDO:patterns/location_top, NCIT:C2934]
synonym: "disorder of central nervous system" RELATED [MONDO:patterns/location_top]
xref: DOID:331 {source="MONDO:equivalentTo"}
xref: ICD10:G96.9 {source="DOID:331"}
xref: MESH:D002493 {source="MONDO:equivalentTo", source="DOID:331"}
xref: NCIT:C2934 {source="MONDO:equivalentTo", source="DOID:331", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:23853001 {source="MONDO:equivalentTo", source="DOID:331"}
xref: UMLS:C0007682 {source="NCIT:C2934", source="MONDO:equivalentTo", source="DOID:331"}
is_a: MONDO:0005071 {source="DOID:331", source="MESH:D002493", source="MONDO:Redundant", source="NCIT:C2934", source="linkedlifedata"} ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/138748005
property_value: closeMatch http://identifiers.org/snomedct/154981003
property_value: closeMatch http://identifiers.org/snomedct/155049004
property_value: closeMatch http://identifiers.org/snomedct/155059003
property_value: closeMatch http://identifiers.org/snomedct/192641002
property_value: closeMatch http://identifiers.org/snomedct/193076009
property_value: closeMatch http://identifiers.org/snomedct/194566008
property_value: closeMatch http://identifiers.org/snomedct/267144009
property_value: closeMatch http://identifiers.org/snomedct/267679005
property_value: closeMatch http://identifiers.org/snomedct/267700003
property_value: closeMatch http://identifiers.org/snomedct/267702006
property_value: closeMatch http://identifiers.org/snomedct/275539005
property_value: exactMatch DOID:331
property_value: exactMatch http://identifiers.org/mesh/D002493
property_value: exactMatch http://identifiers.org/snomedct/23853001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007682
property_value: exactMatch NCIT:C2934

[Term]
id: MONDO:0002603
name: angiomyolipoma
def: "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described." [NCIT:P378]
synonym: "angiomyolipoma (morphologic abnormality)" EXACT [DOID:3314]
xref: DOID:3314 {source="MONDO:equivalentTo"}
xref: GARD:0012024 {source="MONDO:equivalentTo"}
xref: ICDO:8860/0 {source="NCIT:C3734"}
xref: MESH:D018207 {source="MONDO:equivalentTo", source="DOID:3314", source="MONDO:ontobio"}
xref: NCIT:C3734 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3314"}
xref: UMLS:C0206633 {source="MONDO:equivalentTo", source="DOID:3314", source="NCIT:C3734"}
is_a: MONDO:0006359 {source="MESH:D018207", source="NCIT:C3734"} ! neoplasm with perivascular epithelioid cell differentiation
property_value: closeMatch http://identifiers.org/snomedct/19929002
property_value: exactMatch DOID:3314
property_value: exactMatch http://identifiers.org/mesh/D018207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206633
property_value: exactMatch NCIT:C3734

[Term]
id: MONDO:0002604
name: pericytic neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:C6528]
synonym: "malignant perivascular cancer" NARROW [DOID:3316]
synonym: "Pericytic neoplasm" EXACT [NCIT:C6528]
synonym: "Pericytic tumor" EXACT [NCIT:C6528]
synonym: "perivascular neoplasm" EXACT [NCIT:C6528]
synonym: "perivascular tumor" EXACT [NCIT:C6528]
xref: DOID:3316 {source="MONDO:equivalentTo"}
xref: NCIT:C6528 {source="MONDO:kboom-pr-1.00/0.84/12.83", source="MONDO:equivalentTo", source="DOID:3316"}
xref: UMLS:C1335392 {source="MONDO:equivalentTo", source="DOID:3316", source="NCIT:C6528"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6528"} ! mesenchymal cell neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334611
property_value: closeMatch NCIT:C6530
property_value: exactMatch DOID:3316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335392
property_value: exactMatch NCIT:C6528

[Term]
id: MONDO:0002605
name: hepatic angiomyolipoma
def: "An angiomyolipoma arising from the liver." [NCIT:P378]
synonym: "liver angiomyolipoma" EXACT [NCIT:C27485]
synonym: "liver PEComa" EXACT [NCIT:C27485]
xref: DOID:3317 {source="MONDO:equivalentTo"}
xref: NCIT:C27485 {source="MONDO:equivalentTo", source="DOID:3317", source="MONDO:kboom-pr-1.00/0.91/25.91"}
xref: UMLS:C1333962 {source="NCIT:C27485", source="MONDO:equivalentTo", source="DOID:3317"}
is_a: MONDO:0002603 {source="MONDO:Redundant", source="NCIT:C27485"} ! angiomyolipoma
is_a: MONDO:0004721 {source="DOID:3317", source="MONDO:Redundant"} ! liver neoplasm
property_value: exactMatch DOID:3317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333962
property_value: exactMatch NCIT:C27485

[Term]
id: MONDO:0002606
name: epithelioid type angiomyolipoma
def: "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." [NCIT:P378]
xref: DOID:3318 {source="MONDO:equivalentTo"}
xref: NCIT:C38151 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3318"}
xref: UMLS:C1333426 {source="MONDO:equivalentTo", source="DOID:3318", source="NCIT:C38151"}
is_a: MONDO:0002603 {source="DOID:3318", source="NCIT:C38151"} ! angiomyolipoma
property_value: exactMatch DOID:3318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333426
property_value: exactMatch NCIT:C38151

[Term]
id: MONDO:0002607
name: obsolete lymphangioleiomyomatosis
is_obsolete: true
replaced_by: MONDO:0011705

[Term]
id: MONDO:0002608
name: obsolete gangliosidosis GM2
is_obsolete: true
replaced_by: MONDO:0017720

[Term]
id: MONDO:0002609
name: obsolete gangliosidosis GM1
is_obsolete: true
replaced_by: MONDO:0018149

[Term]
id: MONDO:0002610
name: purpura (disease)
def: "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." [NCIT:P378]
synonym: "purpura" EXACT [MONDO:ambiguous]
synonym: "purpuric disorder" EXACT [DOID:3326]
xref: DOID:3326 {source="MONDO:equivalentTo"}
xref: HP:0000979 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D69.2 {source="DOID:3326"}
xref: MESH:D011693 {source="DOID:3326", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:387778001 {source="DOID:3326", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0034150 {source="DOID:3326", source="MONDO:equivalentTo"}
is_a: MONDO:0002243 {source="DOID:3326"} ! hemorrhagic disease
property_value: closeMatch http://identifiers.org/snomedct/118653003
property_value: closeMatch http://identifiers.org/snomedct/12393003
property_value: closeMatch http://identifiers.org/snomedct/154822006
property_value: closeMatch http://identifiers.org/snomedct/191313005
property_value: closeMatch http://identifiers.org/snomedct/246989006
property_value: closeMatch http://identifiers.org/snomedct/267564008
property_value: closeMatch http://identifiers.org/snomedct/423902002
property_value: exactMatch DOID:3326
property_value: exactMatch http://identifiers.org/mesh/D011693
property_value: exactMatch http://identifiers.org/snomedct/387778001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034150
property_value: exactMatch NCIT:C78787

[Term]
id: MONDO:0002611
name: obsolete benign epilepsy with centrotemporal spikes
is_obsolete: true
replaced_by: MONDO:0007295

[Term]
id: MONDO:0002612
name: frontal lobe epilepsy
def: "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" [MESH:D017034]
synonym: "epilepsy of frontal lobe" EXACT [MONDO:design_pattern]
synonym: "frontal lobe epilepsy" EXACT [MONDO:patterns/location]
xref: DOID:3331 {source="MONDO:equivalentTo"}
xref: MESH:D017034 {source="DOID:3331", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:230394006 {source="DOID:3331", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085541 {source="DOID:3331", source="MONDO:equivalentTo"}
is_a: MONDO:0005384 {source="DOID:3331", source="MESH:D017034", source="linkedlifedata", source="linkedlifedata/inferred"} ! partial epilepsy
property_value: exactMatch DOID:3331
property_value: exactMatch http://identifiers.org/mesh/D017034
property_value: exactMatch http://identifiers.org/snomedct/230394006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085541

[Term]
id: MONDO:0002613
name: histrionic personality disorder (disease)
def: "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." [NCIT:P378]
synonym: "histrionic personality disorder" EXACT [MONDO:ambiguous]
xref: COHD:440369 {source="MONDO:equivalentTo"}
xref: DOID:334 {source="MONDO:equivalentTo"}
xref: HP:0012077 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F60.4 {source="MONDO:equivalentTo", source="DOID:334"}
xref: ICD9:301.5 {source="DOID:334"}
xref: ICD9:301.50 {source="MONDO:equivalentTo", source="i2s", source="DOID:334"}
xref: ICD9:301.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006677 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:334"}
xref: NCIT:C92634 {source="MONDO:equivalentTo", source="DOID:334", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:55341008 {source="MONDO:equivalentTo", source="DOID:334", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002028 {source="DOID:334", source="NCIT:C92634", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease)
property_value: closeMatch http://identifiers.org/snomedct/154900000
property_value: closeMatch http://identifiers.org/snomedct/191764009
property_value: closeMatch http://identifiers.org/snomedct/191767002
property_value: closeMatch http://identifiers.org/snomedct/192489002
property_value: closeMatch http://identifiers.org/snomedct/268758001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019681
property_value: exactMatch DOID:334
property_value: exactMatch http://identifiers.org/mesh/D006677
property_value: exactMatch http://identifiers.org/snomedct/55341008
property_value: exactMatch NCIT:C92634

[Term]
id: MONDO:0002614
name: bone inflammation disease
def: "Inflammation of the bone." [MESH:D010000]
synonym: "bone inflammatory disease" EXACT [DOID:3342]
synonym: "inflammatory disorder of bone" EXACT [DOID:3342]
synonym: "osteitis" EXACT [CSP2005:2715-2703, DOID:3342]
xref: DOID:3342 {source="MONDO:equivalentTo"}
xref: MESH:D010000 {source="DOID:3342", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:274144001 {source="DOID:3342", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.30"}
xref: UMLS:C0029400 {source="DOID:3342", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="DOID:3342", source="MESH:D010000", source="linkedlifedata"} ! bone disease
property_value: closeMatch http://identifiers.org/snomedct/156780005
property_value: closeMatch http://identifiers.org/snomedct/363172002
property_value: closeMatch http://identifiers.org/snomedct/44462005
property_value: exactMatch DOID:3342
property_value: exactMatch http://identifiers.org/mesh/D010000
property_value: exactMatch http://identifiers.org/snomedct/274144001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029400

[Term]
id: MONDO:0002615
name: xanthomatosis (disease)
def: "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." [MESH:D014973]
synonym: "xanthelasmatosis" EXACT [CSP2005:1746-8555, DOID:3345]
synonym: "xanthomatosis" EXACT [MONDO:ambiguous]
xref: DOID:3345 {source="MONDO:equivalentTo"}
xref: HP:0000991 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:63103006 {source="DOID:3345", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.20"}
xref: UMLS:C0043325 {source="DOID:3345", source="MONDO:equivalentTo"}
is_a: MONDO:0019245 {source="DOID:3345"} ! lysosomal lipid storage disorder
relationship: disease_has_feature MONDO:0005236 {source="Wikidata"} ! xanthoma (disease)
property_value: closeMatch http://identifiers.org/mesh/D014973
property_value: exactMatch DOID:3345
property_value: exactMatch http://identifiers.org/snomedct/63103006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043325

[Term]
id: MONDO:0002616
name: mesenchymal cell neoplasm
def: "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." [NCIT:C7059]
synonym: "benign miscellaneous mesenchymal tumor" EXACT [DOID:3350]
synonym: "mesenchymal cell neoplasm" EXACT [NCIT:C7059]
synonym: "mesenchymal cell tumor" EXACT [NCIT:C7059]
synonym: "mesenchymal neoplasm" EXACT [NCIT:C7059]
synonym: "mesenchymal tumor" EXACT [DOID:3350, NCIT:C7059]
xref: DOID:3350 {source="MONDO:equivalentTo"}
xref: NCIT:C7059 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3350"}
xref: UMLS:C1334699 {source="NCIT:C7059", source="MONDO:equivalentTo", source="DOID:3350"}
is_a: MONDO:0005070 {source="DOID:3350/inferred", source="MONDO:Redundant", source="MONDOLEX:0002616", source="NCIT:C7059/inferred", source="OWLReasoner:2017"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332517
property_value: closeMatch NCIT:C6587
property_value: exactMatch DOID:3350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334699
property_value: exactMatch NCIT:C7059

[Term]
id: MONDO:0002617
name: bone angiosarcoma
def: "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation." [NCIT:C6479]
synonym: "angiosarcoma (disease) of bone tissue" EXACT []
synonym: "bone angioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "bone angiosarcoma" EXACT [NCIT:C6479]
synonym: "bone Hemangioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "bone hemangiosarcoma" EXACT [NCIT:C6479]
synonym: "bone tissue angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osseous angioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "osseous angiosarcoma" EXACT [NCIT:C6479]
synonym: "osseous hemangiosarcoma" EXACT [DOID:3351, NCIT:C6479]
xref: DOID:3351 {source="MONDO:equivalentTo"}
xref: NCIT:C6479 {source="MONDO:equivalentTo", source="DOID:3351", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332574 {source="MONDO:equivalentTo", source="NCIT:C6479", source="DOID:3351"}
is_a: MONDO:0016982 {source="MONDO:Redundant", source="NCIT:C6479"} ! angiosarcoma (disease)
is_a: MONDO:0021054 {source="NCIT:C6479"} ! bone sarcoma
is_a: MONDO:0024499 {source="MONDO:Redundant", source="NCIT:C6479"} ! vascular bone neoplasm
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3351"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332574
property_value: exactMatch NCIT:C6479

[Term]
id: MONDO:0002618
name: undifferentiated high grade pleomorphic sarcoma of bone
def: "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." [NCIT:C8563]
synonym: "malignant bone fibrous histiocytoma" EXACT [NCIT:C8563]
synonym: "malignant fibrous histiocytoma of bone" EXACT [NCIT:C8563]
synonym: "malignant fibrous histiocytoma of the bone" EXACT [DOID:3352, NCIT:C8563]
synonym: "undifferentiated high grade pleomorphic sarcoma" EXACT [NCIT:C8563]
synonym: "undifferentiated high grade pleomorphic sarcoma of bone" EXACT [NCIT:C8563]
synonym: "undifferentiated high-grade pleomorphic sarcoma" EXACT [NCIT:C8563]
xref: DOID:3352 {source="MONDO:equivalentTo"}
xref: NCIT:C8563 {source="DOID:3352", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0740479 {source="DOID:3352", source="NCIT:C8563", source="MONDO:equivalentTo"}
is_a: MONDO:0021054 {source="MONDOLEX:0002618", source="NCIT:C8563"} ! bone sarcoma
relationship: excluded_subClassOf MONDO:0002142 {source="DOID:3352"} ! undifferentiated pleomorphic sarcoma
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3352"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740479
property_value: exactMatch NCIT:C8563

[Term]
id: MONDO:0002619
name: bone fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C6604]
synonym: "bone fibrosarcoma" EXACT [NCIT:C6604]
synonym: "bone tissue fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "fibrosarcoma of bone" EXACT [NCIT:C6604]
synonym: "fibrosarcoma of the bone" EXACT [DOID:3354, NCIT:C6604]
xref: DOID:3354 {source="MONDO:equivalentTo"}
xref: NCIT:C6604 {source="MONDO:equivalentTo"}
xref: UMLS:C2733623 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6604"}
is_a: MONDO:0005164 {source="MONDO:Redundant", source="MONDOLEX:0002619", source="NCIT:C6604"} ! fibrosarcoma (disease)
is_a: MONDO:0021054 {source="MONDO:Redundant", source="MONDOLEX:0002619", source="NCIT:C6604"} ! bone sarcoma
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3354"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2733623
property_value: exactMatch NCIT:C6604

[Term]
id: MONDO:0002620
name: localized osteosarcoma
def: "A non-disseminated osteosarcoma." [NCIT:C7780]
synonym: "localized osteogenic sarcoma" EXACT [DOID:3356, NCIT:C7780]
synonym: "localized osteosarcoma" EXACT [NCIT:C7780]
synonym: "osteosarcoma, localized" EXACT [NCIT:C7780]
xref: DOID:3356 {source="MONDO:equivalentTo"}
xref: NCIT:C7780 {source="DOID:3356", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0278511 {source="NCIT:C7780", source="DOID:3356", source="MONDO:equivalentTo"}
is_a: MONDO:0009807 {source="DOID:3356", source="MONDOLEX:0002620", source="NCIT:C7780"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278511
property_value: exactMatch NCIT:C7780

[Term]
id: MONDO:0002621
name: extraosseous osteosarcoma
def: "An osteosarcoma arising from the soft tissue." [NCIT:C8810]
synonym: "extraosseous osteosarcoma" EXACT [NCIT:C8810]
synonym: "extraskeletal osteogenic sarcoma" EXACT [DOID:3357, NCIT:C8810]
synonym: "extraskeletal osteosarcoma" EXACT [NCIT:C8810]
synonym: "osteosarcoma, extraskeletal, malignant" EXACT [NCIT:C8810]
synonym: "soft tissue osteosarcoma" EXACT [NCIT:C8810]
xref: DOID:3357 {source="MONDO:equivalentTo"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8810 {source="DOID:3357", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/6.15"}
xref: SCTID:404077005 {source="DOID:3357", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20"}
xref: UMLS:C0855052 {source="DOID:3357", source="MONDO:equivalentTo", source="NCIT:C8810"}
is_a: MONDO:0009807 {source="DOID:3357", source="MONDOLEX:0002621", source="NCIT:C8810"} ! osteosarcoma (disease)
is_a: MONDO:0018078 {source="NCIT:C8810"} ! soft tissue sarcoma
property_value: exactMatch DOID:3357
property_value: exactMatch http://identifiers.org/snomedct/404077005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855052
property_value: exactMatch NCIT:C8810

[Term]
id: MONDO:0002622
name: multifocal osteogenic sarcoma
def: "A primary bone osteosarcoma affecting multiple bone sites." [NCIT:C6470]
synonym: "multicentric osteosarcoma" EXACT [NCIT:C6470]
synonym: "multifocal osteosarcoma" EXACT [NCIT:C6470]
xref: DOID:3360 {source="MONDO:equivalentTo"}
xref: NCIT:C6470 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3360"}
xref: UMLS:C1334820 {source="MONDO:equivalentTo", source="DOID:3360", source="NCIT:C6470"}
is_a: MONDO:0009807 {source="DOID:3360", source="MONDOLEX:0002622", source="NCIT:C6470/inferred"} ! osteosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/431371000124105
property_value: exactMatch DOID:3360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334820
property_value: exactMatch NCIT:C6470

[Term]
id: MONDO:0002623
name: pediatric osteosarcoma
def: "An osteosarcoma occurring in childhood." [NCIT:P378]
synonym: "childhood osteogenic sarcoma" EXACT [NCIT:C6585]
synonym: "childhood osteosarcoma" EXACT [NCIT:C6585]
synonym: "childhood osteosarcoma (disease)" EXACT []
synonym: "osteosarcoma" EXACT [NCIT:C6585]
synonym: "osteosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric osteosarcoma" EXACT [NCIT:C6585]
synonym: "pediatric osteosarcoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric osteosarcoma (disease)" RELATED [MONDO:patterns/childhood]
xref: DOID:3361 {source="MONDO:equivalentTo"}
xref: NCIT:C6585 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.32", source="DOID:3361"}
xref: UMLS:C1332986 {source="NCIT:C6585", source="MONDO:equivalentTo", source="DOID:3361"}
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C6585"} ! childhood malignant neoplasm
is_a: MONDO:0009807 {source="DOID:3361", source="MONDO:Redundant", source="MONDOLEX:0002623", source="NCIT:C6585"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332986
property_value: exactMatch NCIT:C6585

[Term]
id: MONDO:0002624
name: bone leiomyosarcoma
def: "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7154]
synonym: "bone leiomyosarcoma" EXACT [NCIT:C7154]
synonym: "bone tissue leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of bone" EXACT [NCIT:C7154]
synonym: "leiomyosarcoma of bone tissue" EXACT [MONDO:design_pattern]
xref: DOID:3367 {source="MONDO:equivalentTo"}
xref: NCIT:C7154 {source="DOID:3367", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332579 {source="NCIT:C7154", source="DOID:3367", source="MONDO:equivalentTo"}
is_a: MONDO:0005058 ! leiomyosarcoma
is_a: MONDO:0021054 {source="MONDOLEX:0002624", source="NCIT:C7154"} ! bone sarcoma
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3367"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332579
property_value: exactMatch NCIT:C7154

[Term]
id: MONDO:0002625
name: Ewing sarcoma of bone
def: "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." [NCIT:C4835]
synonym: "bone Ewing sarcoma" EXACT [DOID:3368]
synonym: "bone Ewing's sarcoma" EXACT [NCIT:C4835]
synonym: "bone Ewing's sarcoma" RELATED [DOID:3368]
synonym: "bone localized Ewing sarcoma" EXACT [DOID:3368]
synonym: "bone localized Ewing's sarcoma" EXACT [DOID:3368]
synonym: "bone tissue Ewing sarcoma" EXACT [MONDO:patterns/location]
synonym: "Ewing sarcoma of bone" EXACT [NCIT:C4835]
synonym: "Ewing's sarcoma of bone" EXACT [DOID:3368, NCIT:C4835]
synonym: "Ewing's sarcoma, osseous" EXACT [NCIT:C4835]
synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [DOID:3368]
synonym: "localized skeletal Ewing's sarcoma" EXACT [DOID:3368, NCIT:C6623]
synonym: "osseous Ewing's sarcoma" EXACT [NCIT:C4835]
synonym: "osseous Ewing's tumor" EXACT [NCIT:C4835]
synonym: "skeletal Ewing's sarcoma" EXACT [NCIT:C4835]
synonym: "skeletal Ewing's tumor" EXACT [DOID:3368, NCIT:C4835]
xref: DOID:3368 {source="MONDO:equivalentTo"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4835 {source="DOID:3368", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.69/0.61"}
xref: SCTID:307608006 {source="DOID:3368", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0585474 {source="MEDGEN:kboom-pr98-c99", source="DOID:3368", source="MONDO:equivalentTo", source="NCIT:C4835"}
is_a: MONDO:0012817 {source="DOID:3368", source="MONDO:Redundant", source="MONDOLEX:0002625", source="NCIT:C4835"} ! Ewing sarcoma
is_a: MONDO:0021054 {source="MONDOLEX:0002625", source="NCIT:C4835", source="linkedlifedata"} ! bone sarcoma
is_a: MONDO:0021123 {source="MONDO:Redundant", source="NCIT:C4835", source="OWLReasoner:2017"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334406
property_value: closeMatch NCIT:C6623
property_value: exactMatch DOID:3368
property_value: exactMatch http://identifiers.org/snomedct/307608006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585474
property_value: exactMatch NCIT:C4835

[Term]
id: MONDO:0002626
name: spinal accessory nerve neoplasm
def: "A neoplasm involving a accessory XI nerve spinal component." [MONDO:patterns/neoplasm]
synonym: "accessory nerve neoplasm" EXACT [NCIT:C5829]
synonym: "accessory XI nerve spinal component neoplasm" EXACT []
synonym: "accessory XI nerve spinal component neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "accessory XI nerve spinal component tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "eleventh cranial nerve neoplasm" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve neoplasms" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve tumor" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve tumors" EXACT [NCIT:C5829]
synonym: "neoplasm of accessory nerve" EXACT [DOID:337]
synonym: "neoplasm of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of the eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of the spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve neoplasm" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve neoplasms" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve tumor" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve tumors" EXACT [NCIT:C5829]
synonym: "tumor of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "tumor of spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "tumor of the eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "tumor of the spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "XIth cranial nerve neoplasms" EXACT [NCIT:C5829]
synonym: "XIth cranial nerve tumors" EXACT [DOID:337, NCIT:C5829]
xref: DOID:337 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5829 {source="DOID:337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:126977003 {source="DOID:337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1263902 {source="DOID:337", source="NCIT:C5829", source="MONDO:equivalentTo"}
is_a: MONDO:0002633 {source="DOID:337", source="MONDO:Redundant", source="NCIT:C5829", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0002636 {source="MONDO:Redundant", source="NCIT:C5829", source="OWLReasoner:2017", source="linkedlifedata"} ! accessory nerve disease
property_value: exactMatch DOID:337
property_value: exactMatch http://identifiers.org/snomedct/126977003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263902
property_value: exactMatch NCIT:C5829

[Term]
id: MONDO:0002627
name: chondroblastic osteosarcoma
def: "An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." [NCIT:C4021]
synonym: "chondroblastic osteogenic sarcoma" EXACT [NCIT:C4021]
synonym: "chondroblastic osteosarcoma" EXACT [NCIT:C4021]
synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:3372]
synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372, NCIT:C4021]
synonym: "CHOS" RELATED [ONCOTREE:CHOS]
xref: DOID:3372 {source="MONDO:equivalentTo"}
xref: ICDO:9181/3 {source="NCIT:C4021"}
xref: NCIT:C4021 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3372"}
xref: ONCOTREE:CHOS {source="MONDO:equivalentTo"}
xref: UMLS:C0279603 {source="NCIT:C4021", source="MONDO:equivalentTo", source="DOID:3372"}
is_a: MONDO:0002631 {source="NCIT:C4021"} ! conventional osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/76312009
property_value: exactMatch DOID:3372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279603
property_value: exactMatch NCIT:C4021

[Term]
id: MONDO:0002628
name: peripheral osteosarcoma
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:P378]
synonym: "bone surface (peripheral) osteosarcoma" EXACT [NCIT:C7134]
synonym: "peripheral osteosarcoma" EXACT [NCIT:C7134]
synonym: "surface osteosarcoma" EXACT [DOID:3374, NCIT:C7134]
xref: DOID:3374 {source="MONDO:equivalentTo"}
xref: NCIT:C7134 {source="DOID:3374", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332591 {source="DOID:3374", source="NCIT:C7134", source="MONDO:equivalentTo"}
is_a: MONDO:0002629 {source="DOID:3374", source="NCIT:C7134/inferred"} ! bone osteosarcoma
property_value: exactMatch DOID:3374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332591
property_value: exactMatch NCIT:C7134

[Term]
id: MONDO:0002629
name: bone osteosarcoma
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C53707]
subset: ordo_disease {source="Orphanet:668"}
synonym: "bone osteosarcoma" EXACT [NCIT:C53707]
synonym: "osteosarcoma of bone" EXACT [NCIT:C53707]
synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834]
xref: DOID:3376 {source="MONDO:equivalentTo"}
xref: GARD:0007284 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C41.9 {source="Orphanet:668", source="ORDO:668/ntbt"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10031291 {source="ORDO:668/e", source="Orphanet:668"}
xref: MESH:D012516 {source="ORDO:668/e", source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"}
xref: NCIT:C53707 {source="DOID:3376", source="MONDO:equivalentTo"}
xref: OMIM:259500 {source="ORDO:668/e", source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"}
xref: Orphanet:668 {source="MONDO:equivalentTo", source="OMIM:259500"}
xref: SCTID:307576001 {source="DOID:3376", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.20"}
is_a: MONDO:0009807 {source="DOID:3376", source="MONDOLEX:0002629", source="NCIT:C53707"} ! osteosarcoma (disease)
is_a: MONDO:0021054 {source="MONDOLEX:0002629", source="NCIT:C53707", source="Orphanet:668", source="linkedlifedata"} ! bone sarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0585442
property_value: exactMatch DOID:3376
property_value: exactMatch http://identifiers.org/meddra/10031291
property_value: exactMatch http://identifiers.org/mesh/D012516
property_value: exactMatch http://identifiers.org/omim/259500
property_value: exactMatch http://identifiers.org/snomedct/307576001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029463
property_value: exactMatch NCIT:C53707
property_value: exactMatch Orphanet:668

[Term]
id: MONDO:0002630
name: small cell osteogenic sarcoma
def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." [NCIT:P378]
synonym: "round cell osteosarcoma" EXACT [DOID:3377]
synonym: "SCOS" RELATED [ONCOTREE:SCOS]
synonym: "small cell osteosarcoma" EXACT [DOID:3377, NCIT:C4023]
xref: DOID:3377 {source="MONDO:equivalentTo"}
xref: ICDO:9185/3 {source="NCIT:C4023"}
xref: NCIT:C4023 {source="DOID:3377", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:SCOS {source="MONDO:equivalentTo"}
xref: UMLS:C0279622 {source="DOID:3377", source="NCIT:C4023", source="MONDO:equivalentTo"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0006974 {source="NCIT:C4023"} ! small cell sarcoma
relationship: excluded_subClassOf MONDO:0002631 {source="DOID:3377"} ! conventional osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/12302002
property_value: closeMatch http://identifiers.org/snomedct/189882001
property_value: exactMatch DOID:3377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279622
property_value: exactMatch NCIT:C4023

[Term]
id: MONDO:0002631
name: conventional osteosarcoma
def: "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." [NCIT:C35870]
synonym: "central osteosarcoma" EXACT [NCIT:C35870]
synonym: "conventional central osteosarcoma" EXACT [DOID:3378, NCIT:C35870]
synonym: "conventional osteosarcoma" EXACT [NCIT:C35870]
synonym: "intracortical osteogenic sarcoma" EXACT [NCIT:C35870] {source="MONDO:0004300"}
synonym: "intracortical osteosarcoma" EXACT [DOID:7602, NCIT:C35870]
synonym: "intracortical osteosarcoma (morphologic abnormality)" EXACT [DOID:7602]
synonym: "medullary osteosarcoma" EXACT [NCIT:C35870]
xref: DOID:3378 {source="MONDO:equivalentTo"}
xref: DOID:7602 {source="MONDO:equivalentTo"}
xref: ICDO:9186/3 {source="NCIT:C35870"}
xref: ICDO:9195/3 {source="NCIT:C35870"}
xref: NCIT:C35870 {source="DOID:7602", source="MONDO:equivalentTo"}
xref: UMLS:C1266166 {source="NCIT:C35870", source="DOID:7602", source="MONDO:equivalentTo"}
is_a: MONDO:0002629 {source="DOID:3378", source="NCIT:C35870/inferred"} ! bone osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/128770002
property_value: closeMatch http://identifiers.org/snomedct/128774006
property_value: exactMatch DOID:3378
property_value: exactMatch DOID:7602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266166
property_value: exactMatch NCIT:C35870

[Term]
id: MONDO:0002632
name: metachronous osteosarcoma of the bone
def: "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." [NCIT:P378]
synonym: "metachronous osteosarcoma" EXACT [NCIT:C38157]
synonym: "metachronous osteosarcoma of the bone" EXACT [NCIT:C38157]
xref: DOID:3379 {source="MONDO:equivalentTo"}
xref: NCIT:C38157 {source="DOID:3379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334704 {source="DOID:3379", source="NCIT:C38157", source="MONDO:equivalentTo"}
is_a: MONDO:0002629 {source="NCIT:C38157"} ! bone osteosarcoma
property_value: exactMatch DOID:3379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334704
property_value: exactMatch NCIT:C38157

[Term]
id: MONDO:0002633
name: cranial nerve neoplasm
def: "Abnormal growth of the cells that comprise the cranial nerves." [NCIT:C2963]
synonym: "cranial nerve neoplasm" EXACT [NCIT:C2963]
synonym: "cranial nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cranial nerve neoplasms" EXACT [NCIT:C2963]
synonym: "cranial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "neoplasm of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "neoplasm of the cranial nerve" EXACT [NCIT:C2963]
synonym: "tumor of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "tumor of the cranial nerve" EXACT [DOID:338, NCIT:C2963]
xref: DOID:338 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003390 {source="DOID:338", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2963 {source="DOID:338", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126966009 {source="DOID:338", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010267 {source="DOID:338", source="MONDO:equivalentTo", source="NCIT:C2963"}
is_a: MONDO:0001406 {source="MESH:D003390", source="MONDO:Redundant", source="OWLReasoner:2017"} ! peripheral nervous system neoplasm
is_a: MONDO:0003569 {source="MESH:D003390", source="MONDO:Redundant", source="NCIT:C2963", source="OWLReasoner:2017", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0005586 ! head and neck neoplasm
property_value: exactMatch DOID:338
property_value: exactMatch http://identifiers.org/mesh/D003390
property_value: exactMatch http://identifiers.org/snomedct/126966009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010267
property_value: exactMatch NCIT:C2963

[Term]
id: MONDO:0002634
name: liposarcoma of bone
def: "A very rare malignant adipose tissue neoplasm that arises from the bone." [NCIT:P378]
synonym: "bone liposarcoma" EXACT [NCIT:C7598]
synonym: "bone tissue liposarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liposarcoma of bone" EXACT [NCIT:C7598]
synonym: "liposarcoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "liposarcoma of the bone" EXACT [DOID:3381, NCIT:C7598]
xref: DOID:3381 {source="MONDO:equivalentTo"}
xref: NCIT:C7598 {source="MONDO:equivalentTo", source="DOID:3381", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332581 {source="NCIT:C7598", source="MONDO:equivalentTo", source="DOID:3381"}
is_a: MONDO:0005060 {source="DOID:3381", source="MONDO:Redundant", source="NCIT:C7598"} ! liposarcoma
is_a: MONDO:0021054 {source="MONDO:Redundant", source="MONDOLEX:0002634", source="NCIT:C7598"} ! bone sarcoma
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3381"} ! osteosarcoma (disease)
property_value: exactMatch DOID:3381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332581
property_value: exactMatch NCIT:C7598

[Term]
id: MONDO:0002635
name: periodontal disease
def: "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." [NCIT:P378]
synonym: "disease of periodontium" EXACT [MONDO:patterns/location_top]
synonym: "disease of supporting structures of teeth" EXACT [DOID:3388]
synonym: "disease of supporting structures of teeth, NOS" RELATED EXCLUDE [DOID:3388]
synonym: "disease or disorder of periodontium" EXACT []
synonym: "disorder of periodontium" EXACT [MONDO:patterns/location_top]
synonym: "disorder of periodontium" RELATED [MONDO:patterns/location_top]
synonym: "periodontal disease" EXACT [DOID:3388]
synonym: "periodontal disorder" EXACT [NCIT:C63743]
synonym: "periodontium disease" EXACT [MONDO:patterns/location]
synonym: "periodontium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "periodontium disorder" EXACT [CSP2005:0828-4279, DOID:3388]
xref: COHD:134398 {source="MONDO:equivalentTo"}
xref: DOID:3388 {source="MONDO:equivalentTo"}
xref: ICD10:K05.6 {source="DOID:3388"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010510 {source="DOID:3388", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C63743 {source="DOID:3388", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:2556008 {source="DOID:3388", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0031090 {source="DOID:3388", source="MONDO:equivalentTo", source="NCIT:C63743"}
is_a: MONDO:0006999 {source="DOID:3388", source="NCIT:C63743/inferred"} ! tooth disease
property_value: closeMatch http://identifiers.org/snomedct/13877006
property_value: closeMatch http://identifiers.org/snomedct/196354003
property_value: exactMatch DOID:3388
property_value: exactMatch http://identifiers.org/mesh/D010510
property_value: exactMatch http://identifiers.org/snomedct/2556008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031090
property_value: exactMatch NCIT:C63743

[Term]
id: MONDO:0002636
name: accessory nerve disease
def: "A disease involving the accessory XI nerve." [MONDO:DesignPattern]
synonym: "accessory nerve disorder" EXACT [NCIT:C26953]
synonym: "accessory XI nerve disease" EXACT [MONDO:patterns/location]
synonym: "accessory XI nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of accessory XI nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of accessory XI nerve" EXACT []
synonym: "disorder of 11th nerve" EXACT [DOID:339, MTHICD9_2006:352.4, NCIT:C26953]
synonym: "disorder of accessory [11th] nerve" EXACT [DOID:339, ICD9CM_2006:352.4]
synonym: "disorder of accessory nerve" EXACT [DOID:339]
synonym: "disorder of accessory XI nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of accessory XI nerve" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the 11th nerve" EXACT [NCIT:C26953]
synonym: "eleventh nerve disorder" EXACT [DOID:339, NCIT:C26953]
xref: COHD:437547 {source="MONDO:equivalentTo"}
xref: DOID:339 {source="MONDO:equivalentTo"}
xref: ICD9:352.4 {source="DOID:339", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020436 {source="DOID:339", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26953 {source="DOID:339", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:84759007 {source="DOID:339", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152180 {source="DOID:339", source="MONDO:equivalentTo", source="NCIT:C26953"}
is_a: MONDO:0003569 {source="DOID:339/inferred", source="MESH:D020436", source="MONDO:Redundant", source="NCIT:C26953", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:339"} ! glossopharyngeal nerve disease
property_value: exactMatch DOID:339
property_value: exactMatch http://identifiers.org/mesh/D020436
property_value: exactMatch http://identifiers.org/snomedct/84759007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152180
property_value: exactMatch NCIT:C26953

[Term]
id: MONDO:0002637
name: histiocytosis
def: "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes." [NCIT:C3106]
synonym: "chronic histiocytosis X" EXACT [DOID:3405, MTHICD9_2006:277.89]
synonym: "hand Schuller Christian disease" EXACT [CSP2005:0427-5330, DOID:3405]
synonym: "histiocytic and dendritic cell neoplasms" RELATED [ONCOTREE:HDCN]
synonym: "histiocytic infiltrate" EXACT [NCIT:C3106]
synonym: "histiocytic syndrome" EXACT [NCIT:C3106]
xref: DOID:3405 {source="MONDO:equivalentTo"}
xref: MESH:D015614 {source="MONDO:equivalentTo", source="DOID:3405", source="MONDO:ontobio"}
xref: NCIT:C3106 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:3405"}
xref: ONCOTREE:HDCN {source="MONDO:equivalentTo"}
xref: UMLS:C0019618 {source="MONDO:equivalentTo", source="DOID:3405"}
is_a: MONDO:0005833 {source="DOID:3405", source="MESH:D015614"} ! lymphatic system disease
property_value: closeMatch http://identifiers.org/snomedct/190957008
property_value: closeMatch http://identifiers.org/snomedct/60657004
property_value: closeMatch http://identifiers.org/snomedct/65396000
property_value: exactMatch DOID:3405
property_value: exactMatch http://identifiers.org/mesh/D015614
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019618
property_value: exactMatch NCIT:C3106

[Term]
id: MONDO:0002638
name: glossopharyngeal nerve neoplasm
def: "A neoplasm involving a glossopharyngeal nerve." [MONDO:patterns/neoplasm]
synonym: "glossopharyngeal nerve neoplasm" EXACT [NCIT:C5828]
synonym: "glossopharyngeal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal nerve neoplasms" EXACT [NCIT:C5828]
synonym: "glossopharyngeal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "glossopharyngeal nerve tumors" EXACT [NCIT:C5828]
synonym: "IXth cranial nerve neoplasms" EXACT [NCIT:C5828]
synonym: "IXth cranial nerve tumors" EXACT [NCIT:C5828]
synonym: "neoplasm of glossopharyngeal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "neoplasm of Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "neoplasm of the glossopharyngeal nerve" EXACT [NCIT:C5828]
synonym: "neoplasm of the Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve neoplasm" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve neoplasms" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve tumor" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve tumors" EXACT [NCIT:C5828]
synonym: "tumor of glossopharyngeal nerve" EXACT [DOID:3417, MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "tumor of Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "tumor of the glossopharyngeal nerve" EXACT [NCIT:C5828]
synonym: "tumor of the Ninth cranial nerve" EXACT [NCIT:C5828]
xref: DOID:3417 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5828 {source="MONDO:equivalentTo", source="DOID:3417", source="exact-label-match"}
xref: SCTID:126975006 {source="MONDO:equivalentTo", source="DOID:3417", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1263900 {source="NCIT:C5828", source="MONDO:equivalentTo", source="DOID:3417"}
is_a: MONDO:0002633 {source="DOID:3417", source="MONDO:Redundant", source="NCIT:C5828", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0002639 ! glossopharyngeal nerve disease
property_value: exactMatch DOID:3417
property_value: exactMatch http://identifiers.org/snomedct/126975006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263900
property_value: exactMatch NCIT:C5828

[Term]
id: MONDO:0002639
name: glossopharyngeal nerve disease
def: "A disease involving the glossopharyngeal nerve." [MONDO:DesignPattern]
synonym: "disease of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of glossopharyngeal nerve" EXACT []
synonym: "disorder of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of glossopharyngeal nerve" RELATED [MONDO:patterns/location_top]
synonym: "glossopharyngeal nerve disease" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "glossopharyngeal nerve disorder" EXACT [NCIT:C27211]
synonym: "IX nerve disorder" EXACT [NCIT:C27211]
synonym: "ninth nerve disorder" EXACT [NCIT:C27211]
xref: DOID:3418 {source="MONDO:equivalentTo"}
xref: ICD10:G52 {source="DOID:3418"}
xref: ICD9:352 {source="DOID:3418"}
xref: ICD9:352.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27211 {source="MONDO:equivalentTo"}
xref: SCTID:80962007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751941 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003569 {source="DOID:3418", source="MONDO:Redundant", source="NCIT:C27211", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/193098000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154730
property_value: exactMatch DOID:3418
property_value: exactMatch http://identifiers.org/snomedct/80962007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751941
property_value: exactMatch NCIT:C27211

[Term]
id: MONDO:0002640
name: optic nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas." [NCIT:C4801]
synonym: "cranial nerve II neoplasm" EXACT []
synonym: "cranial nerve II neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cranial nerve II neoplasms" EXACT [NCIT:C4801]
synonym: "cranial nerve II tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of cranial nerve II" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of second cranial nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of the optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of the second cranial nerve" EXACT [NCIT:C4801]
synonym: "neoplasms, optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasms, second cranial nerve" EXACT [NCIT:C4801]
synonym: "optic nerve neoplasm" EXACT [NCIT:C4801]
synonym: "optic nerve neoplasms" EXACT [NCIT:C4801]
synonym: "optic nerve tumor" EXACT [NCIT:C4801]
synonym: "second cranial nerve neoplasm" EXACT [NCIT:C4801]
synonym: "second cranial nerve neoplasms" EXACT [NCIT:C4801]
synonym: "second cranial nerve tumor" EXACT [NCIT:C4801]
synonym: "tumor of cranial nerve II" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of optic nerve" EXACT [NCIT:C4801]
synonym: "tumor of second cranial nerve" EXACT [DOID:3419, NCIT:C4801]
synonym: "tumor of the optic nerve" EXACT [NCIT:C4801]
synonym: "tumor of the second cranial nerve" EXACT [NCIT:C4801]
synonym: "tumour of optic nerve" EXACT [DOID:3419]
xref: DOID:3419 {source="MONDO:equivalentTo"}
xref: EFO:1001073 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019574 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3419"}
xref: NCIT:C4801 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3419"}
xref: SCTID:395505000 {source="MONDO:equivalentTo", source="DOID:3419", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0524802 {source="MONDO:equivalentTo", source="NCIT:C4801", source="DOID:3419"}
is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Redundant", source="NCIT:C4801", source="OWLReasoner:2017", source="linkedlifedata"} ! optic nerve disease
is_a: MONDO:0002633 {source="DOID:3419", source="MESH:D019574", source="NCIT:C4801", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0006130 ! central nervous system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126968005
property_value: closeMatch http://identifiers.org/snomedct/254971001
property_value: exactMatch DOID:3419
property_value: exactMatch http://identifiers.org/mesh/D019574
property_value: exactMatch http://identifiers.org/snomedct/395505000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524802
property_value: exactMatch NCIT:C4801

[Term]
id: MONDO:0002641
name: subclavian artery aneurysm
def: "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm." [https://heart.uvahealth.com/services/aneurysms/subclavian-aneurysm]
comment: Editor note: consider moving to HPO
xref: COHD:432335 {source="MONDO:equivalentTo"}
xref: DOID:342 {source="MONDO:equivalentTo"}
xref: ICD9:442.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:342"}
xref: SCTID:40136003 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo", source="DOID:342"}
xref: UMLS:C0155746 {source="MONDO:equivalentTo", source="DOID:342"}
is_a: MONDO:0000473 {source="DOID:342", source="linkedlifedata/inferred"} ! arterial disorder
property_value: exactMatch DOID:342
property_value: exactMatch http://identifiers.org/snomedct/40136003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155746

[Term]
id: MONDO:0002642
name: trochlear nerve neoplasm
def: "A neoplasm involving a trochlear nerve." [MONDO:patterns/neoplasm]
synonym: "fourth cranial nerve neoplasm" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve neoplasms" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve tumor" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve tumors" EXACT [NCIT:C5825]
synonym: "IVth cranial nerve neoplasms" EXACT [NCIT:C5825]
synonym: "IVth cranial nerve tumors" EXACT [NCIT:C5825]
synonym: "neoplasm of fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of the fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of the trochlear nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of trochlear nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "trochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trochlear nerve neoplasms" EXACT [NCIT:C5825]
synonym: "trochlear nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "trochlear nerve tumors" EXACT [NCIT:C5825]
synonym: "tumor of fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "tumor of the fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "tumor of the trochlear nerve" EXACT [NCIT:C5825]
synonym: "tumor of trochlear nerve" EXACT [DOID:3421, MONDO:patterns/neoplasm, NCIT:C5825]
xref: DOID:3421 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5825 {source="DOID:3421", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:126970001 {source="DOID:3421", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263896 {source="DOID:3421", source="MONDO:equivalentTo", source="NCIT:C5825"}
is_a: MONDO:0002633 {source="DOID:3421", source="MONDO:Redundant", source="NCIT:C5825", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0007002 {source="MONDO:Redundant", source="NCIT:C5825", source="OWLReasoner:2017"} ! trochlear nerve disease
property_value: exactMatch DOID:3421
property_value: exactMatch http://identifiers.org/snomedct/126970001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263896
property_value: exactMatch NCIT:C5825

[Term]
id: MONDO:0002643
name: vestibular disease
def: "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." [MESH:D015837]
synonym: "disease of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease of vestibular system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vestibular labyrinth" EXACT []
synonym: "disorder of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of vestibular labyrinth" RELATED [MONDO:patterns/location_top]
synonym: "disorder of vestibular system" RELATED [MONDO:patterns/location_top]
synonym: "vertigo, vestibular disorder" EXACT [DOID:3426]
synonym: "vestibular labyrinth disease" EXACT [MONDO:design_pattern]
synonym: "vestibular labyrinth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vestibular system disease" EXACT [MONDO:patterns/location]
xref: DOID:3426 {source="MONDO:equivalentTo"}
xref: ICD10:H81 {source="DOID:3426"}
xref: ICD10:H81.9 {source="DOID:3426"}
xref: ICD10:H81.90 {source="DOID:3426"}
xref: MESH:D015837 {source="MONDO:equivalentTo", source="DOID:3426", source="MONDO:ontobio"}
xref: UMLS:C0042594 {source="MONDO:equivalentTo", source="DOID:3426"}
is_a: MONDO:0002467 {source="DOID:3426", source="MESH:D015837", source="MONDO:Redundant", source="MONDOLEX:0002643"} ! inner ear disease
is_a: MONDO:0024417 ! perceptual disorders
property_value: closeMatch http://identifiers.org/snomedct/194379003
property_value: closeMatch http://identifiers.org/snomedct/194695008
property_value: closeMatch http://identifiers.org/snomedct/20425006
property_value: closeMatch http://identifiers.org/snomedct/267761002
property_value: exactMatch DOID:3426
property_value: exactMatch http://identifiers.org/mesh/D015837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042594

[Term]
id: MONDO:0002644
name: idiopathic granulomatous myositis
synonym: "granulomatous myositis" RELATED [DOID:3428]
synonym: "idiopathic granulomatous myositis" EXACT [NCIT:C27575]
xref: DOID:3428 {source="MONDO:equivalentTo"}
xref: NCIT:C27575 {source="MONDO:equivalentTo", source="DOID:3428"}
xref: Orphanet:206979 {source="MONDO:equivalentTo"}
xref: UMLS:C1334150 {source="NCIT:C27575", source="MONDO:equivalentTo", source="DOID:3428"}
is_a: MONDO:0021167 {source="DOID:3428", source="MONDOLEX:0002644", source="NCIT:C27575"} ! myositis
property_value: exactMatch DOID:3428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334150
property_value: exactMatch NCIT:C27575
property_value: exactMatch Orphanet:206979

[Term]
id: MONDO:0002645
name: cerebritis
def: "Inflammation of the cerebrum." [NCIT:P378]
synonym: "cerebral hemisphere inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cerebral hemisphere" EXACT []
xref: DOID:3431 {source="MONDO:equivalentTo"}
xref: NCIT:C27199 {source="DOID:3431", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0742115 {source="DOID:3431", source="NCIT:C27199", source="MONDO:equivalentTo"}
is_a: MONDO:0015144 ! brain inflammatory disease
property_value: exactMatch DOID:3431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742115
property_value: exactMatch NCIT:C27199

[Term]
id: MONDO:0002646
name: viral laryngitis
def: "Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus." [NCIT:P378]
synonym: "Viruses caused laryngitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses laryngitis" EXACT []
xref: DOID:3436 {source="MONDO:equivalentTo"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27305 {source="DOID:3436", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:441551009 {source="DOID:3436", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0853195 {source="DOID:3436", source="MONDO:equivalentTo", source="NCIT:C27305"}
is_a: MONDO:0004777 {source="DOID:3436"} ! acute laryngitis
is_a: MONDO:0024352 ! viral respiratory tract infection
property_value: exactMatch DOID:3436
property_value: exactMatch http://identifiers.org/snomedct/441551009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853195
property_value: exactMatch NCIT:C27305

[Term]
id: MONDO:0002647
name: laryngitis
def: "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378]
synonym: "inflammation of larynx" EXACT []
synonym: "laryngeal Inflammation" EXACT [NCIT:C26811]
synonym: "laryngeal inflammation" EXACT [NCIT:C26811]
synonym: "larynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3437 {source="MONDO:equivalentTo"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007827 {source="MONDO:equivalentTo", source="DOID:3437", source="MONDO:ontobio"}
xref: NCIT:C26811 {source="MONDO:kboom-pr-0.96/0.70/2.55", source="MONDO:equivalentTo", source="DOID:3437"}
xref: SCTID:45913009 {source="MONDO:equivalentTo", source="DOID:3437", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0023067 {source="MONDO:equivalentTo", source="DOID:3437", source="NCIT:C26811"}
is_a: MONDO:0004382 {source="DOID:3437", source="MESH:D007827", source="MONDO:Redundant", source="NCIT:C26811/inferred", source="linkedlifedata"} ! laryngeal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: exactMatch DOID:3437
property_value: exactMatch http://identifiers.org/mesh/D007827
property_value: exactMatch http://identifiers.org/snomedct/45913009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023067
property_value: exactMatch NCIT:C26811

[Term]
id: MONDO:0002648
name: mammary Paget disease
def: "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur." [NCIT:C47857]
synonym: "breast Paget disease" EXACT [MONDO:patterns/location]
synonym: "mammary Paget disease" EXACT [DOID:3443]
synonym: "mammary Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C47857]
synonym: "Paget cell neoplasm" EXACT [DOID:3443]
synonym: "Paget disease of the breast" EXACT [NCIT:C47857]
synonym: "Paget's disease" EXACT EXCLUDE [DOID:3443]
synonym: "Paget's disease of breast" EXACT [NCIT:C47857]
synonym: "Paget's disease of the breast" EXACT [DOID:3443, NCIT:C47857]
xref: DOID:3443 {source="MONDO:equivalentTo"}
xref: ICDO:8540/3 {source="NCIT:C47857"}
xref: NCIT:C47857 {source="MONDO:equivalentTo"}
xref: UMLS:CN200478 {source="MONDO:equivalentTo"}
is_a: MONDO:0004988 {source="DOID:3443", source="MONDO:Redundant", source="NCIT:C47857"} ! breast adenocarcinoma
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C47857"} ! Paget disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368019
property_value: exactMatch DOID:3443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200478
property_value: exactMatch NCIT:C47857

[Term]
id: MONDO:0002649
name: scrotum Paget disease
def: "A mammary Paget's disease that involves the scrotum." [MONDO:patterns/location]
synonym: "Paget disease of the scrotum" EXACT [NCIT:C7728]
synonym: "Paget's disease of scrotum" EXACT [DOID:3444, NCIT:C7728]
synonym: "Paget's disease of the scrotum" EXACT [NCIT:C7728]
synonym: "scrotal Paget's disease" EXACT [NCIT:C7728]
synonym: "scrotum mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "scrotum Paget disease" EXACT [DOID:3444, MONDO:patterns/location]
synonym: "scrotum Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:3444 {source="MONDO:equivalentTo"}
xref: NCIT:C7728 {source="MONDO:kboom-pr-1.00/0.91/29.35", source="DOID:3444", source="MONDO:equivalentTo"}
xref: UMLS:C0238330 {source="DOID:3444", source="MONDO:equivalentTo", source="NCIT:C7728"}
is_a: MONDO:0002650 {source="DOID:3444", source="MONDO:Redundant", source="NCIT:C7728"} ! scrotal carcinoma
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C7728/inferred", source="OWLReasoner:2017"} ! Paget disease
property_value: exactMatch DOID:3444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238330
property_value: exactMatch NCIT:C7728

[Term]
id: MONDO:0002650
name: scrotal carcinoma
def: "A carcinoma that arises from epithelial cells of the scrotum." [MONDO:DesignPattern]
synonym: "cancer of scrotum" EXACT [NCIT:C6389]
synonym: "cancer of the scrotum" EXACT [NCIT:C6389]
synonym: "carcinoma of scrotum" EXACT [DOID:3445, MONDO:patterns/carcinoma, NCIT:C6389]
synonym: "carcinoma of the scrotum" EXACT [NCIT:C6389]
synonym: "scrotal cancer" EXACT [NCIT:C6389]
synonym: "scrotum carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3445 {source="MONDO:equivalentTo"}
xref: NCIT:C6389 {source="DOID:3445", source="MONDO:kboom-pr-0.91/0.79/0.33", source="MONDO:equivalentTo"}
xref: UMLS:C1370468 {source="DOID:3445", source="MONDO:equivalentTo", source="NCIT:C6389"}
is_a: MONDO:0004993 {source="DOID:3445", source="MONDO:Redundant", source="MONDOLEX:0002650", source="NCIT:C6389/inferred"} ! carcinoma
is_a: MONDO:0021112 {source="MONDO:Redundant", source="NCIT:C6389"} ! scrotum cancer
property_value: exactMatch DOID:3445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370468
property_value: exactMatch NCIT:C6389

[Term]
id: MONDO:0002651
name: anal Paget disease
def: "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." [NCIT:P378]
synonym: "anal Paget disease" EXACT [DOID:3446]
synonym: "anal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C5598]
synonym: "anus mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "anus Paget disease" EXACT [MONDO:patterns/location]
synonym: "Paget disease of the anus" EXACT [NCIT:C5598]
synonym: "Paget's disease of anus" EXACT [DOID:3446, NCIT:C5598]
synonym: "Paget's disease of the anus" EXACT [DOID:3446, NCIT:C5598]
xref: DOID:3446 {source="MONDO:equivalentTo"}
xref: NCIT:C5598 {source="MONDO:equivalentTo", source="DOID:3446", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332274 {source="MONDO:equivalentTo", source="NCIT:C5598", source="DOID:3446"}
is_a: MONDO:0002652 {source="DOID:3446", source="MONDO:Redundant", source="NCIT:C5598"} ! anus adenocarcinoma
is_a: MONDO:0008177 {source="NCIT:C5598"} ! extramammary Paget disease
property_value: exactMatch DOID:3446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332274
property_value: exactMatch NCIT:C5598

[Term]
id: MONDO:0002652
name: anus adenocarcinoma
def: "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." [NCIT:C5600]
synonym: "adenocarcinoma of anus" EXACT [DOID:3447, NCIT:C5600]
synonym: "adenocarcinoma of the anus" EXACT [DOID:3447, NCIT:C5600]
synonym: "anal adenocarcinoma" EXACT [NCIT:C5600]
synonym: "anus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3447 {source="MONDO:equivalentTo"}
xref: NCIT:C5600 {source="DOID:3447", source="MONDO:equivalentTo"}
xref: SCTID:423607006 {source="DOID:3447", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.49"}
xref: UMLS:C1332257 {source="DOID:3447", source="MONDO:equivalentTo", source="NCIT:C5600"}
is_a: MONDO:0002169 ! rectum adenocarcinoma
is_a: MONDO:0003199 {source="DOID:3447", source="MONDO:Redundant", source="MONDOLEX:0002652", source="NCIT:C5600", source="linkedlifedata"} ! anal carcinoma
property_value: exactMatch DOID:3447
property_value: exactMatch http://identifiers.org/snomedct/423607006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332257
property_value: exactMatch NCIT:C5600

[Term]
id: MONDO:0002653
name: Paget disease of the penis
def: "A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" [NCIT:C27817]
synonym: "Paget disease of the penis" EXACT [NCIT:C27817]
synonym: "Paget's disease of penis" EXACT [DOID:3448, NCIT:C27817]
synonym: "Paget's disease of the penis" EXACT [NCIT:C27817]
synonym: "penile adenocarcinoma" EXACT [NCIT:C27817]
synonym: "penis mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "penis Paget disease" EXACT [DOID:3448, MONDO:patterns/location]
synonym: "penis Paget's disease" RELATED [DOID:3448]
xref: DOID:3448 {source="MONDO:equivalentTo"}
xref: NCIT:C27817 {source="MONDO:equivalentTo", source="DOID:3448"}
xref: SCTID:398768004 {source="MONDO:equivalentTo", source="DOID:3448", source="MONDO:kboom-pr-0.74/0.44/0.23"}
xref: UMLS:C0221286 {source="MONDO:equivalentTo", source="DOID:3448", source="NCIT:C27817"}
is_a: MONDO:0008177 {source="NCIT:C27817"} ! extramammary Paget disease
is_a: MONDO:0018351 ! adenocarcinoma of penis
property_value: closeMatch http://identifiers.org/snomedct/255104003
property_value: exactMatch DOID:3448
property_value: exactMatch http://identifiers.org/snomedct/398768004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221286
property_value: exactMatch NCIT:C27817

[Term]
id: MONDO:0002654
name: uterine disease
def: "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma." [NCIT:P378]
synonym: "disease of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uterus" EXACT []
synonym: "disorder of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of uterus" RELATED [MONDO:patterns/location_top]
synonym: "uterine disease" EXACT [NCIT:C26907]
synonym: "uterine disorder" EXACT [NCIT:C26907]
synonym: "uterus disease" EXACT [MONDO:patterns/location]
synonym: "uterus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:345 {source="MONDO:equivalentTo"}
xref: ICD10:N85.9 {source="DOID:345"}
xref: ICD9:621.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:621.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:345"}
xref: MESH:D014591 {source="MONDO:equivalentTo", source="DOID:345"}
xref: NCIT:C26907 {source="MONDO:equivalentTo", source="DOID:345", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:12337004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.94", source="DOID:345"}
xref: UMLS:C0042131 {source="NCIT:C26907", source="MONDO:equivalentTo", source="DOID:345"}
is_a: MONDO:0002263 {source="DOID:345", source="MESH:D014591", source="MONDO:Redundant", source="NCIT:C26907", source="linkedlifedata"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/156004005
property_value: closeMatch http://identifiers.org/snomedct/156009000
property_value: closeMatch http://identifiers.org/snomedct/198335006
property_value: closeMatch http://identifiers.org/snomedct/237068005
property_value: exactMatch DOID:345
property_value: exactMatch http://identifiers.org/mesh/D014591
property_value: exactMatch http://identifiers.org/snomedct/12337004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042131
property_value: exactMatch NCIT:C26907

[Term]
id: MONDO:0002655
name: cutaneous Paget disease
def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." [DOID:3450]
synonym: "cutaneous Paget disease" EXACT [DOID:3450]
synonym: "cutaneous Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "extramammary Paget's disease" EXACT [DOID:3450]
synonym: "Paget's disease of skin" EXACT EXCLUDE [DOID:3450]
synonym: "zone of skin Paget disease" EXACT [MONDO:patterns/location]
xref: DOID:3450 {source="MONDO:equivalentTo"}
is_a: MONDO:0002656 {source="DOID:3450", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
is_a: MONDO:0021165 ! Paget disease
property_value: exactMatch DOID:3450

[Term]
id: MONDO:0002656
name: skin carcinoma
def: "A carcinoma that arises from epithelial cells of the zone of skin" [MONDO:DesignPattern]
synonym: "carcinoma of skin" EXACT [DOID:3451, MTH:683, NCIT:C4914]
synonym: "carcinoma of the skin" EXACT [NCIT:C4914]
synonym: "carcinoma of zone of skin" EXACT [MONDO:patterns/carcinoma]
synonym: "non-melanoma cancer of skin" EXACT [NCIT:C4914]
synonym: "non-melanoma cancer of the skin" EXACT [NCIT:C4914]
synonym: "non-melanoma skin cancer" EXACT [NCIT:C4914]
synonym: "nonmelanoma skin cancer" EXACT [NCIT:C4914]
synonym: "skin cancer, non-melanoma" EXACT [NCIT:C4914]
synonym: "skin carcinoma" EXACT [NCIT:C4914]
synonym: "zone of skin carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3451 {source="MONDO:equivalentTo"}
xref: NCIT:C4914 {source="DOID:3451", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0699893 {source="DOID:3451", source="NCIT:C4914", source="MONDO:equivalentTo"}
is_a: MONDO:0002898 {source="DOID:3451", source="MONDO:Redundant", source="MONDOLEX:0002656", source="NCIT:C4914"} ! skin cancer
is_a: MONDO:0004993 {source="DOID:3451", source="MONDO:Redundant", source="MONDOLEX:0002656", source="NCIT:C4914"} ! carcinoma
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4914"} ! epithelial skin neoplasm
property_value: exactMatch DOID:3451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699893
property_value: exactMatch NCIT:C4914

[Term]
id: MONDO:0002657
name: breast disease
def: "A disease involving the breast." [MONDO:DesignPattern]
synonym: "breast disease" EXACT [MONDO:patterns/location, NCIT:C26709]
synonym: "breast disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "breast diseases" EXACT [NCIT:C26709]
synonym: "breast disorder" EXACT [NCIT:C26709]
synonym: "disease of breast" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of breast" EXACT []
synonym: "disorder of breast" EXACT [MONDO:patterns/location_top]
synonym: "disorder of breast" RELATED [MONDO:patterns/location_top]
xref: COHD:77030 {source="MONDO:equivalentTo"}
xref: DOID:3463 {source="MONDO:equivalentTo"}
xref: ICD10:N60-N65 {source="DOID:3463"}
xref: ICD10:N64.9 {source="DOID:3463"}
xref: ICD9:610-612.99 {source="DOID:3463"}
xref: ICD9:611.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:611.9 {source="DOID:3463", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001941 {source="DOID:3463", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26709 {source="DOID:3463", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:79604008 {source="DOID:3463", source="MONDO:kboom-pr-1.00/0.76/8.51", source="MONDO:equivalentTo"}
xref: UMLS:C0006145 {source="DOID:3463", source="NCIT:C26709", source="MONDO:equivalentTo"}
is_a: MONDO:0000651 {source="DOID:3463", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease
property_value: closeMatch http://identifiers.org/snomedct/155946009
property_value: closeMatch http://identifiers.org/snomedct/155962003
property_value: closeMatch http://identifiers.org/snomedct/155966000
property_value: closeMatch http://identifiers.org/snomedct/198129001
property_value: closeMatch http://identifiers.org/snomedct/198566004
property_value: closeMatch http://identifiers.org/snomedct/266647006
property_value: exactMatch DOID:3463
property_value: exactMatch http://identifiers.org/mesh/D001941
property_value: exactMatch http://identifiers.org/snomedct/79604008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006145
property_value: exactMatch NCIT:C26709

[Term]
id: MONDO:0002658
name: iris cancer
def: "A malignant neoplasm involving the iris." [MONDO:DesignPattern]
synonym: "cancer of iris" EXACT [MONDO:patterns/cancer]
synonym: "iris cancer" EXACT [MONDO:patterns/location]
synonym: "malignant iris neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant iris tumor" EXACT [NCIT:C4554]
synonym: "malignant neoplasm of iris" EXACT [MONDO:patterns/cancer, NCIT:C4554]
synonym: "malignant neoplasm of the iris" EXACT [DOID:3478, NCIT:C4554]
synonym: "malignant tumor of iris" EXACT [DOID:3478]
synonym: "malignant tumor of the iris" EXACT [NCIT:C4554]
synonym: "tumor of the iris" EXACT [DOID:3478, NCIT:C3142]
xref: DOID:3478 {source="MONDO:equivalentTo"}
xref: EFO:1000996 {source="MONDO:equivalentTo"}
xref: NCIT:C4554 {source="DOID:3478", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:188264002 {source="DOID:3478", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.46"}
xref: UMLS:C0346372 {source="MEDGEN:kboom-pr97-c98", source="DOID:3478", source="MONDO:equivalentTo", source="NCIT:C4554"}
is_a: MONDO:0002659 {source="DOID:3478", source="MONDO:Redundant", source="NCIT:C4554"} ! uveal cancer
is_a: MONDO:0021224 {source="MONDO:Redundant", source="NCIT:C4554"} ! iris neoplasm
property_value: closeMatch http://identifiers.org/mesh/D015811
property_value: closeMatch http://identifiers.org/snomedct/231964001
property_value: exactMatch DOID:3478
property_value: exactMatch http://identifiers.org/snomedct/188264002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346372
property_value: exactMatch NCIT:C4554

[Term]
id: MONDO:0002659
name: uveal cancer
def: "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris." [NCIT:P378]
synonym: "cancer of uvea" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the uvea" EXACT [NCIT:C6105]
synonym: "malignant neoplasm of uvea" EXACT [MONDO:patterns/cancer, NCIT:C6105]
synonym: "malignant tumor of the uvea" EXACT [NCIT:C6105]
synonym: "malignant tumor of uvea" EXACT [NCIT:C6105]
synonym: "malignant uvea neoplasm" EXACT [DOID:3479, MONDO:patterns/cancer, NCIT:C6105]
synonym: "malignant uvea tumor" EXACT [NCIT:C6105]
synonym: "malignant uveal neoplasm" EXACT [NCIT:C6105]
synonym: "malignant uveal tumor" EXACT [DOID:3479, NCIT:C6105]
synonym: "uvea cancer" EXACT [MONDO:patterns/location]
synonym: "uveal tumor" EXACT [DOID:3479, NCIT:C3436]
xref: DOID:3479 {source="MONDO:equivalentTo"}
xref: EFO:1001230 {source="MONDO:equivalentTo"}
xref: NCIT:C6105 {source="MONDO:equivalentTo", source="DOID:3479", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C1334629 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:3479", source="NCIT:C6105"}
is_a: MONDO:0002236 {source="DOID:3479", source="MONDO:Redundant", source="NCIT:C6105"} ! ocular cancer
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C6105"} ! uvea neoplasm
property_value: closeMatch http://identifiers.org/mesh/D014604
property_value: exactMatch DOID:3479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334629
property_value: exactMatch NCIT:C6105

[Term]
id: MONDO:0002660
name: blepharochalasis (disease)
def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." [DOID:348, https://en.wikipedia.org/wiki/Blepharochalasis]
synonym: "blepharochalasis" EXACT [MONDO:ambiguous]
xref: COHD:375551 {source="MONDO:equivalentTo"}
xref: DOID:348 {source="MONDO:equivalentTo"}
xref: HP:0010749 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H02.3 {source="DOID:348", source="MONDO:equivalentTo"}
xref: ICD9:374.34 {source="DOID:348", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:47704002 {source="DOID:348", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0005742 {source="DOID:348", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="DOID:348", source="linkedlifedata"} ! eyelid disease
property_value: closeMatch http://identifiers.org/snomedct/193944001
property_value: closeMatch http://identifiers.org/snomedct/193962005
property_value: closeMatch http://identifiers.org/snomedct/267650003
property_value: exactMatch DOID:348
property_value: exactMatch http://identifiers.org/snomedct/47704002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005742

[Term]
id: MONDO:0002661
name: uveal disease
def: "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." [NCIT:P378]
synonym: "disease of uvea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uvea" EXACT []
synonym: "disorder of uvea" EXACT [MONDO:patterns/location_top]
synonym: "disorder of uvea" RELATED [MONDO:patterns/location_top]
synonym: "disorder of uveal tract" RELATED [MONDO:patterns/location_top]
synonym: "uvea disease" EXACT [MONDO:patterns/location]
synonym: "uvea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "uveal disease" EXACT [NCIT:C26908]
synonym: "uveal diseases" RELATED [GARD:0008192]
synonym: "uveal disorder" EXACT [NCIT:C26908]
synonym: "uveal tract disease" EXACT [MONDO:patterns/location]
xref: DOID:3480 {source="MONDO:equivalentTo"}
xref: GARD:0008192 {source="shared-xref", source="MONDO:equivalentTo"}
xref: MESH:D014603 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3480"}
xref: NCIT:C26908 {source="MONDO:equivalentTo", source="DOID:3480", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:95678007 {source="MONDO:equivalentTo", source="DOID:3480"}
xref: UMLS:C0042161 {source="NCIT:C26908", source="MONDO:equivalentTo", source="DOID:3480"}
is_a: MONDO:0005328 {source="DOID:3480", source="MESH:D014603", source="MONDO:Redundant", source="NCIT:C26908", source="linkedlifedata"} ! eye disease
property_value: exactMatch DOID:3480
property_value: exactMatch http://identifiers.org/mesh/D014603
property_value: exactMatch http://identifiers.org/snomedct/95678007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042161
property_value: exactMatch NCIT:C26908

[Term]
id: MONDO:0002662
name: obsolete plague
is_obsolete: true
replaced_by: MONDO:0019095

[Term]
id: MONDO:0002663
name: obsolete systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0016586

[Term]
id: MONDO:0002664
name: extrahepatic bile duct signet ring cell carcinoma
def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." [NCIT:C5776]
synonym: "bile duct signet Ring cell carcinoma" EXACT [DOID:3494, NCIT:C5776]
synonym: "bile duct signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct signet Ring cell carcinoma" EXACT [NCIT:C5776]
synonym: "signet Ring cell bile duct carcinoma" EXACT [NCIT:C5776]
synonym: "signet Ring cell carcinoma of bile duct" EXACT [NCIT:C5776]
synonym: "signet Ring cell carcinoma of the bile duct" EXACT [NCIT:C5776]
xref: DOID:3494 {source="MONDO:equivalentTo"}
xref: NCIT:C5776 {source="MONDO:equivalentTo", source="DOID:3494"}
xref: UMLS:C0861859 {source="MONDO:equivalentTo", source="NCIT:C5776", source="DOID:3494"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5776"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3494", source="MONDO:Redundant", source="MONDOLEX:0002664", source="NCIT:C5776"} ! signet ring cell carcinoma
property_value: exactMatch DOID:3494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861859
property_value: exactMatch NCIT:C5776

[Term]
id: MONDO:0002665
name: extrahepatic bile duct adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct" [MONDO:DesignPattern]
synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975]
synonym: "adenocarcinoma of the extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975]
synonym: "extrahepatic bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7975]
xref: DOID:3495 {source="MONDO:equivalentTo"}
xref: NCIT:C7975 {source="DOID:3495", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279659 {source="DOID:3495", source="MONDO:equivalentTo", source="NCIT:C7975"}
is_a: MONDO:0003090 {source="DOID:3495", source="MONDO:Redundant", source="MONDOLEX:0002665", source="NCIT:C7975"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0003193 {source="DOID:3495", source="MONDO:Redundant", source="NCIT:C7975"} ! bile duct adenocarcinoma
property_value: exactMatch DOID:3495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279659
property_value: exactMatch NCIT:C7975

[Term]
id: MONDO:0002666
name: pancreatic signet ring cell adenocarcinoma
def: "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." [NCIT:C5720]
synonym: "pancreas signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic signet Ring cell carcinoma" EXACT [NCIT:C5720]
synonym: "pancreatic signet ring cell carcinoma" EXACT [DOID:3497]
synonym: "signet Ring cell carcinoma of pancreas" EXACT [DOID:3497, NCIT:C5720]
synonym: "signet Ring cell carcinoma of the pancreas" EXACT [NCIT:C5720]
xref: DOID:3497 {source="MONDO:equivalentTo"}
xref: NCIT:C5720 {source="DOID:3497", source="MONDO:equivalentTo"}
xref: UMLS:C1335317 {source="DOID:3497", source="MONDO:equivalentTo", source="NCIT:C5720"}
is_a: MONDO:0005092 {source="DOID:3497", source="MONDO:Redundant", source="MONDOLEX:0002666", source="NCIT:C5720"} ! signet ring cell carcinoma
is_a: MONDO:0005184 {source="DOID:3497", source="NCIT:C5720"} ! pancreatic ductal adenocarcinoma
property_value: exactMatch DOID:3497
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335317
property_value: exactMatch NCIT:C5720

[Term]
id: MONDO:0002667
name: gallbladder signet ring cell adenocarcinoma
def: "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells." [NCIT:C5745]
synonym: "gall bladder signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder signet Ring cell carcinoma" EXACT [NCIT:C5745]
synonym: "signet Ring cell carcinoma of gallbladder" EXACT [NCIT:C5745]
synonym: "signet Ring cell carcinoma of the gallbladder" EXACT [DOID:3499, NCIT:C5745]
xref: DOID:3499 {source="MONDO:equivalentTo"}
xref: NCIT:C5745 {source="DOID:3499", source="MONDO:equivalentTo"}
xref: UMLS:C1333758 {source="DOID:3499", source="MONDO:equivalentTo", source="NCIT:C5745"}
is_a: MONDO:0005092 {source="DOID:3499", source="MONDO:Redundant", source="MONDOLEX:0002667", source="NCIT:C5745"} ! signet ring cell carcinoma
is_a: MONDO:0006215 {source="DOID:3499", source="MONDO:Redundant", source="NCIT:C5745"} ! gallbladder adenocarcinoma
property_value: exactMatch DOID:3499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333758
property_value: exactMatch NCIT:C5745

[Term]
id: MONDO:0002668
name: obsolete gallbladder adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006215

[Term]
id: MONDO:0002669
name: ampullary signet ring cell adenocarcinoma
def: "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells." [NCIT:P378]
synonym: "ampulla of Vater signet Ring cell carcinoma" EXACT [NCIT:C6656]
synonym: "ampullary signet Ring cell carcinoma" EXACT [NCIT:C6656]
synonym: "ampullary signet ring cell carcinoma" EXACT [DOID:3501]
xref: DOID:3501 {source="MONDO:equivalentTo"}
xref: NCIT:C6656 {source="MONDO:equivalentTo", source="DOID:3501", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332249 {source="MONDO:equivalentTo", source="DOID:3501", source="NCIT:C6656"}
is_a: MONDO:0002664 ! extrahepatic bile duct signet ring cell carcinoma
is_a: MONDO:0002670 {source="DOID:3501", source="NCIT:C6656"} ! ampulla of vater adenocarcinoma
property_value: exactMatch DOID:3501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332249
property_value: exactMatch NCIT:C6656

[Term]
id: MONDO:0002670
name: ampulla of vater adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" [MONDO:DesignPattern]
synonym: "adenocarcinoma of ampulla of Vater" EXACT [NCIT:C6650]
synonym: "adenocarcinoma of ampulla of vater" RELATED [DOID:3502]
synonym: "ampulla of Vater adenocarcinoma" EXACT [NCIT:C6650]
synonym: "ampullary adenocarcinoma" EXACT [DOID:3502, NCIT:C6650]
synonym: "hepatopancreatic ampulla adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "invasive adenocarcinoma of the ampullary region" EXACT [NCIT:C6650]
xref: DOID:3502 {source="MONDO:equivalentTo"}
xref: EFO:0008490 {source="MONDO:equivalentTo"}
xref: NCIT:C6650 {source="DOID:3502", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332243 {source="NCIT:C6650", source="DOID:3502", source="MONDO:equivalentTo"}
is_a: MONDO:0002665 ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0006186 {source="DOID:3502", source="MONDO:Entailed", source="MONDO:Redundant"} ! duodenal adenocarcinoma
is_a: MONDO:0017590 {source="DOID:3502", source="EFO:0008490", source="MONDO:Redundant", source="MONDOLEX:0002670", source="NCIT:C6650"} ! carcinoma of the ampulla of vater
property_value: exactMatch DOID:3502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332243
property_value: exactMatch NCIT:C6650

[Term]
id: MONDO:0002671
name: signet ring cell breast carcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance." [NCIT:C5175]
synonym: "breast carcinoma with signet ring" RELATED [ONCOTREE:BRSRCC]
synonym: "breast signet ring cell adenocarcinoma" RELATED [DOID:3503]
synonym: "breast signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "mammary signet Ring cell carcinoma" EXACT [DOID:3503, NCIT:C5175]
synonym: "primary mammary signet Ring cell carcinoma" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell breast carcinoma" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell carcinoma of breast" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "primary SRC breast carcinoma" EXACT [NCIT:C5175]
synonym: "primary SRC carcinoma of breast" EXACT [NCIT:C5175]
synonym: "primary SRC carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "signet Ring cell breast carcinoma" EXACT [NCIT:C5175]
synonym: "signet Ring cell carcinoma of breast" EXACT [NCIT:C5175]
synonym: "signet ring cell carcinoma of breast" RELATED [DOID:3503]
synonym: "signet Ring cell carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "SRC breast carcinoma" EXACT [NCIT:C5175]
synonym: "SRC carcinoma of breast" EXACT [NCIT:C5175]
synonym: "SRC carcinoma of the breast" EXACT [NCIT:C5175]
xref: DOID:3503 {source="MONDO:equivalentTo"}
xref: NCIT:C5175 {source="MONDO:equivalentTo", source="DOID:3503"}
xref: ONCOTREE:BRSRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1335964 {source="NCIT:C5175", source="MONDO:equivalentTo", source="DOID:3503"}
is_a: MONDO:0004988 {source="DOID:3503", source="MONDO:Redundant", source="NCIT:C5175"} ! breast adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3503", source="MONDO:Redundant", source="MONDOLEX:0002671", source="NCIT:C5175"} ! signet ring cell carcinoma
is_a: MONDO:0006256 {source="NCIT:C5175", source="ONCOTREE:BRSRCC"} ! invasive breast carcinoma
property_value: exactMatch DOID:3503
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335964
property_value: exactMatch NCIT:C5175

[Term]
id: MONDO:0002672
name: acinar prostate adenocarcinoma, signet ring variant
def: "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." [NCIT:C5535]
synonym: "acinar prostate adenocarcinoma, signet Ring variant" EXACT [NCIT:C5535]
synonym: "prostate gland signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate signet ring cell adenocarcinoma" RELATED [DOID:3504]
synonym: "prostate signet Ring cell carcinoma" EXACT [NCIT:C5535]
synonym: "prostate signet ring cell carcinoma" EXACT [DOID:3504]
synonym: "signet Ring cell carcinoma of prostate" EXACT [DOID:3504, NCIT:C5535]
synonym: "signet Ring cell carcinoma of the prostate" EXACT [NCIT:C5535]
xref: DOID:3504 {source="MONDO:equivalentTo"}
xref: NCIT:C5535 {source="MONDO:equivalentTo", source="DOID:3504"}
xref: UMLS:C1335520 {source="MONDO:equivalentTo", source="DOID:3504", source="NCIT:C5535"}
is_a: MONDO:0002493 {source="MONDOLEX:0002672", source="NCIT:C5535"} ! prostatic acinar adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3504", source="MONDO:Redundant", source="MONDOLEX:0002672", source="NCIT:C5535"} ! signet ring cell carcinoma
property_value: exactMatch DOID:3504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335520
property_value: exactMatch NCIT:C5535

[Term]
id: MONDO:0002673
name: obsolete dermatofibrosarcoma protuberans
is_obsolete: true
replaced_by: MONDO:0011934

[Term]
id: MONDO:0002674
name: stricture or kinking of ureter
xref: DOID:3508 {source="MONDO:equivalentTo"}
xref: ICD9:593.3 {source="DOID:3508"}
is_a: MONDO:0005240 {source="DOID:3508"} ! kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156261
property_value: exactMatch DOID:3508

[Term]
id: MONDO:0002675
name: neurofibrosarcoma
def: "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" [MESH:D018319]
synonym: "neurosarcoma" EXACT [DOID:3512]
synonym: "neurosarcoma [obs]" EXACT [DOID:3512]
xref: DOID:3512 {source="MONDO:equivalentTo"}
xref: GARD:0008211 {source="MONDO:equivalentTo"}
xref: MESH:D018319 {source="MONDO:equivalentTo", source="DOID:3512"}
is_a: MONDO:0016755 {source="DOID:3512", source="MESH:D018319"} ! neurofibroma
property_value: closeMatch http://identifiers.org/snomedct/19897006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206729
property_value: exactMatch DOID:3512
property_value: exactMatch http://identifiers.org/mesh/D018319

[Term]
id: MONDO:0002676
name: adult fibrosarcoma
def: "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." [NCIT:C7809]
synonym: "adult fibrosarcoma" EXACT [NCIT:C7809]
synonym: "adult fibrosarcoma (disease)" EXACT []
synonym: "fibrosarcoma" EXACT [NCIT:C7809]
synonym: "fibrosarcoma (disease) of adults" EXACT [MONDO:patterns/adult]
xref: DOID:3516 {source="MONDO:equivalentTo"}
xref: NCIT:C7809 {source="MONDO:equivalentTo", source="DOID:3516"}
xref: UMLS:C0278595 {source="NCIT:C7809", source="MONDO:equivalentTo", source="DOID:3516"}
is_a: MONDO:0002677 {source="NCIT:C7809"} ! conventional fibrosarcoma
property_value: exactMatch DOID:3516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278595
property_value: exactMatch NCIT:C7809

[Term]
id: MONDO:0002677
name: conventional fibrosarcoma
def: "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." [NCIT:C9429]
synonym: "classic fibrosarcoma" EXACT [NCIT:C9429]
synonym: "classical fibrosarcoma" EXACT [NCIT:C9429]
synonym: "conventional fibrosarcoma" EXACT [NCIT:C9429]
xref: DOID:3517 {source="MONDO:equivalentTo"}
xref: NCIT:C9429 {source="MONDO:equivalentTo", source="DOID:3517", source="exact-label-match"}
xref: UMLS:C1333156 {source="MONDO:equivalentTo", source="DOID:3517", source="NCIT:C9429"}
is_a: MONDO:0005164 {source="DOID:3517", source="MONDOLEX:0002677", source="NCIT:C9429"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:3517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333156
property_value: exactMatch NCIT:C9429

[Term]
id: MONDO:0002678
name: pediatric fibrosarcoma
def: "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
synonym: "adult fibrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood adult fibrosarcoma" EXACT [MONDO:design_pattern]
synonym: "childhood fibrosarcoma" EXACT [NCIT:C8088]
synonym: "fibrosarcoma" EXACT [NCIT:C8088]
synonym: "pediatric adult fibrosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric adult fibrosarcoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric fibrosarcoma" EXACT [NCIT:C8088]
xref: DOID:3520 {source="MONDO:equivalentTo"}
xref: NCIT:C8088 {source="DOID:3520", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.17"}
xref: UMLS:C0279981 {source="NCIT:C8088", source="DOID:3520", source="MONDO:equivalentTo"}
is_a: MONDO:0002676 ! adult fibrosarcoma
is_a: MONDO:0006517 {source="NCIT:C8088", source="indirect"} ! childhood malignant neoplasm
property_value: exactMatch DOID:3520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279981
property_value: exactMatch NCIT:C8088

[Term]
id: MONDO:0002679
name: cerebral infarction
def: "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." [NCIT:C50486]
synonym: "brain infarction of telencephalon" EXACT [MONDO:design_pattern]
synonym: "cerebral infarct" EXACT [DOID:3526]
synonym: "cerebral infarction" EXACT EXCLUDE [DOID:3526]
synonym: "cerebral infarction NOS" RELATED EXCLUDE [DOID:3526]
synonym: "cerebral ischemia" EXACT [NCIT:C50486]
synonym: "cerebral, infarction" EXACT [NCIT:C50486]
synonym: "CVA - cerebral infarction" EXACT [DOID:3526]
synonym: "infarction, cerebral" EXACT [NCIT:C50486]
synonym: "telencephalon brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:443454 {source="MONDO:equivalentTo"}
xref: DOID:3526 {source="MONDO:equivalentTo"}
xref: ICD10:I63 {source="DOID:3526"}
xref: ICD10:I63.9 {source="DOID:3526"}
xref: ICD9:433.01 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.21 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.31 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002544 {source="MONDO:equivalentTo", source="DOID:3526"}
xref: NCIT:C50486 {source="MONDO:equivalentTo", source="DOID:3526", source="MONDO:kboom-pr-0.92/0.74/1.23"}
xref: SCTID:432504007 {source="MONDO:equivalentTo", source="DOID:3526", source="MONDO:kboom-pr-0.84/0.67/0.06"}
xref: UMLS:C0007785 {source="MONDO:equivalentTo", source="DOID:3526", source="NCIT:C50486"}
is_a: MONDO:0005394 {source="DOID:3526", source="MESH:D002544", source="MONDO:Redundant"} ! brain infarction
property_value: closeMatch http://identifiers.org/snomedct/155405006
property_value: closeMatch http://identifiers.org/snomedct/195188006
property_value: closeMatch http://identifiers.org/snomedct/195191006
property_value: closeMatch http://identifiers.org/snomedct/266256009
property_value: closeMatch http://identifiers.org/snomedct/266315008
property_value: exactMatch DOID:3526
property_value: exactMatch http://identifiers.org/mesh/D002544
property_value: exactMatch http://identifiers.org/snomedct/432504007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007785
property_value: exactMatch NCIT:C50486

[Term]
id: MONDO:0002680
name: chronic wasting disease
def: "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." [MESH:D034081]
xref: DOID:3530 {source="MONDO:equivalentTo"}
xref: MESH:D034081 {source="DOID:3530", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1135993 {source="DOID:3530", source="MONDO:equivalentTo"}
is_a: MONDO:0005429 {source="DOID:3530", source="MESH:D034081"} ! prion disease
is_a: MONDO:0005583 {source="MESH:D034081"} ! non-human animal disease
property_value: exactMatch DOID:3530
property_value: exactMatch http://identifiers.org/mesh/D034081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135993

[Term]
id: MONDO:0002681
name: choroid plexus cancer
def: "A malignant neoplasm involving the choroid plexus" [MONDO:DesignPattern]
comment: Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16
synonym: "cancer of choroid plexus" EXACT [MONDO:patterns/cancer]
synonym: "choroid plexus cancer" EXACT [MONDO:patterns/location]
synonym: "choroid plexus neoplasm" BROAD [DOID:3540]
synonym: "malignant choroid plexus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4533]
synonym: "malignant choroid plexus neoplasms" EXACT [NCIT:C4533]
synonym: "malignant choroid plexus tumor" EXACT [NCIT:C4533]
synonym: "malignant choroid plexus tumors" EXACT [NCIT:C4533]
synonym: "malignant neoplasm of choroid plexus" EXACT [MONDO:patterns/cancer, NCIT:C4533]
synonym: "malignant neoplasm of the choroid plexus" EXACT [NCIT:C4533]
synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533]
synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533]
synonym: "tumor of choroid plexus" EXACT [DOID:3540]
synonym: "tumor of the choroid plexus" EXACT EXCLUDE [DOID:3540]
xref: DOID:3540 {source="MONDO:equivalentTo"}
xref: NCIT:C4533 {source="MONDO:equivalentTo"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002682 ! cerebral ventricle cancer
is_a: MONDO:0016717 {source="NCIT:C4533"} ! choroid plexus neoplasm
is_a: MONDO:0020676 ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/mesh/D016545
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346289
property_value: exactMatch DOID:3540
property_value: exactMatch NCIT:C4533

[Term]
id: MONDO:0002682
name: cerebral ventricle cancer
def: "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." [NCIT:C2937]
subset: gard_rare {source="GARD:0006025"}
synonym: "brain neoplasms, intraventricular" EXACT [NCIT:C2937]
synonym: "brain ventricle cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of brain ventricle" EXACT [MONDO:patterns/cancer]
synonym: "cerebral ventricle neoplasm" EXACT [CSP2005:2006-2736, DOID:3541]
synonym: "intraventricular brain neoplasm" EXACT [NCIT:C2937]
synonym: "intraventricular brain neoplasms" EXACT [NCIT:C2937]
synonym: "intraventricular brain tumor" EXACT [NCIT:C2937]
synonym: "intraventricular neoplasm of brain" EXACT [NCIT:C2937]
synonym: "intraventricular neoplasm of the brain" EXACT [NCIT:C2937]
synonym: "intraventricular neoplasms" EXACT [NCIT:C2937]
synonym: "intraventricular tumor of brain" EXACT [DOID:3541, NCIT:C2937]
synonym: "intraventricular tumor of the brain" EXACT [NCIT:C2937]
synonym: "malignant brain ventricle neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of brain ventricle" EXACT [MONDO:patterns/cancer]
xref: DOID:3541 {source="MONDO:equivalentTo"}
xref: EFO:0007201 {source="MONDO:equivalentTo"}
xref: GARD:0006025 {source="MONDO:equivalentTo"}
xref: ICD10:C71.5 {source="DOID:3541"}
xref: ICD9:191.5 {source="DOID:3541"}
xref: MESH:D002551 {source="DOID:3541", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2937 {source="DOID:3541", source="MONDO:equivalentTo"}
xref: SCTID:126958000 {source="DOID:3541", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0001657 ! brain cancer
relationship: excluded_subClassOf MONDO:0002731 {source="DOID:3541"} ! cerebral hemisphere cancer
property_value: closeMatch http://identifiers.org/snomedct/188294008
property_value: closeMatch http://identifiers.org/snomedct/363471001
property_value: closeMatch http://identifiers.org/snomedct/93748005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007798
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346906
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1656392
property_value: exactMatch DOID:3541
property_value: exactMatch http://identifiers.org/mesh/D002551
property_value: exactMatch http://identifiers.org/snomedct/126958000
property_value: exactMatch NCIT:C2937
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer xsd:anyURI {source="GARD:0006025"}

[Term]
id: MONDO:0002683
name: adult choroid plexus neoplasm
def: "A choroid plexus neoplasm that occurs in an adult." [MONDO:design_pattern]
synonym: "adult choroid plexus cancer" RELATED [DOID:3542]
synonym: "adult choroid plexus neoplasm" EXACT [NCIT:C8568]
synonym: "adult choroid plexus tumor" EXACT [DOID:3542, NCIT:C8568]
synonym: "choroid plexus neoplasm" EXACT [NCIT:C8568]
synonym: "choroid plexus neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult choroid plexus" EXACT [NCIT:C8568]
synonym: "neoplasm of the adult choroid plexus" EXACT [DOID:3542, NCIT:C8568]
synonym: "tumor of adult choroid plexus" EXACT [NCIT:C8568]
synonym: "tumor of the adult choroid plexus" EXACT [NCIT:C8568]
xref: DOID:3542 {source="MONDO:equivalentTo"}
xref: NCIT:C8568 {source="DOID:3542", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:C0796430 {source="DOID:3542", source="MONDO:equivalentTo", source="NCIT:C8568"}
is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C8568"} ! choroid plexus neoplasm
relationship: excluded_subClassOf MONDO:0002681 {source="DOID:3542"} ! choroid plexus cancer
property_value: exactMatch DOID:3542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796430
property_value: exactMatch NCIT:C8568

[Term]
id: MONDO:0002684
name: atypical choroid plexus papilloma
def: "A choroid plexus papilloma characterized by increased mitotic activity." [NCIT:C53686]
subset: ordo_disease {source="Orphanet:251902"}
synonym: "ACPP" RELATED [ONCOTREE:ACPP]
synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, NCIT:C53686, NCIT:C8382, Orphanet:251902]
synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DOID:3544]
synonym: "atypical CPP" EXACT [Orphanet:251902]
synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720]
xref: DOID:3544 {source="MONDO:equivalentTo"}
xref: ICD10:C71.5 {source="ORDO:251902/ntbt", source="Orphanet:251902"}
xref: ICDO:9390/1 {source="NCIT:C53686"}
xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:ACPP {source="MONDO:equivalentTo"}
xref: Orphanet:251902 {source="MONDO:equivalentTo"}
xref: UMLS:C1266176 {source="DOID:3544", source="MONDO:equivalentTo", source="NCIT:C53686", source="Orphanet:251902", source="ORDO:251902/e"}
is_a: MONDO:0016717 {source="NCIT:C53686", source="ONCOTREE:ACPP", source="Orphanet:251902"} ! choroid plexus neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128904001
property_value: exactMatch DOID:3544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266176
property_value: exactMatch NCIT:C53686
property_value: exactMatch Orphanet:251902

[Term]
id: MONDO:0002685
name: childhood choroid plexus carcinoma
def: "A choroid plexus carcinoma that occurs during childhood." [NCIT:C124292]
synonym: "childhood choroid plexus cancer" RELATED [DOID:3545]
synonym: "childhood choroid plexus carcinoma" EXACT [NCIT:C124292]
synonym: "childhood choroid plexus neoplasm" BROAD [DOID:3545]
synonym: "choroid plexus carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choroid plexus carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choroid plexus carcinoma" RELATED [MONDO:patterns/childhood]
xref: DOID:3545 {source="MONDO:equivalentTo"}
xref: NCIT:C124292 {source="MONDO:equivalentTo"}
xref: UMLS:C0280623 {source="NCIT:C124292", source="MONDO:equivalentTo", source="DOID:3545"}
is_a: MONDO:0002071 {source="DOID:3545/inferred", source="NCIT:C124292"} ! supratentorial cancer
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0016718 ! choroid plexus carcinoma
is_a: MONDO:0024744 {source="MONDO:Redundant", source="MONDOLEX:0002685", source="NCIT:C124292"} ! childhood choroid plexus neoplasm
property_value: exactMatch DOID:3545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280623
property_value: exactMatch NCIT:C124292

[Term]
id: MONDO:0002686
name: obsolete mast-cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019024

[Term]
id: MONDO:0002687
name: superior mesenteric artery syndrome
def: "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." [https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome]
subset: gard_rare {source="GARD:0007712"}
synonym: "Arteriomesenteric duodenal compression syndrome" RELATED [GARD:0007712]
synonym: "Cast syndrome" RELATED [GARD:0007712]
synonym: "superior mesenteric artery syndrome" EXACT [DOID:3557, MTHICD9_2006:557.1]
synonym: "superior mesenteric artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of superior mesenteric artery" EXACT [MONDO:design_pattern]
synonym: "vascular compression of the duodenum" RELATED [GARD:0007712]
synonym: "Wilkie syndrome" RELATED [GARD:0007712]
xref: DOID:3557 {source="MONDO:equivalentTo"}
xref: EFO:1001201 {source="MONDO:equivalentTo"}
xref: GARD:0007712 {source="MONDO:equivalentTo"}
xref: MESH:D013478 {source="DOID:3557", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85175 {source="DOID:3557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:197006009 {source="DOID:3557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.21"}
xref: UMLS:C0038828 {source="DOID:3557", source="MONDO:equivalentTo", source="NCIT:C85175"}
is_a: MONDO:0002254 {source="DOID:3557", source="MONDO:Redundant", source="MONDOLEX:0002687", source="NCIT:C85175"} ! syndromic disease
is_a: MONDO:0002688 {source="DOID:3557", source="EFO:1001201", source="MESH:D013478", source="linkedlifedata"} ! duodenal obstruction
is_a: MONDO:0005561 ! aortic disease
property_value: closeMatch http://identifiers.org/snomedct/24988007
property_value: exactMatch DOID:3557
property_value: exactMatch http://identifiers.org/mesh/D013478
property_value: exactMatch http://identifiers.org/snomedct/197006009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038828
property_value: exactMatch NCIT:C85175
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome xsd:anyURI {source="GARD:0007712"}

[Term]
id: MONDO:0002688
name: duodenal obstruction
def: "Blockage of the normal flow of stomach contents through the duodenum." [NCIT:P378]
xref: DOID:3558 {source="MONDO:equivalentTo"}
xref: EFO:1000908 {source="MONDO:equivalentTo"}
xref: ICD10:K31.5 {source="DOID:3558"}
xref: MESH:D004380 {source="MONDO:equivalentTo", source="DOID:3558", source="MONDO:ontobio"}
xref: SCTID:95532008 {source="MONDO:equivalentTo", source="DOID:3558"}
xref: UMLS:C0013292 {source="MONDO:equivalentTo", source="DOID:3558"}
is_a: MONDO:0002866 {source="DOID:3558", source="MESH:D004380", source="linkedlifedata"} ! duodenal disease
is_a: MONDO:0004565 {source="DOID:3558", source="MESH:D004380", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal obstruction
property_value: exactMatch DOID:3558
property_value: exactMatch http://identifiers.org/mesh/D004380
property_value: exactMatch http://identifiers.org/snomedct/95532008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013292
property_value: exactMatch NCIT:C79548

[Term]
id: MONDO:0002689
name: obsolete pseudomyxoma peritonei
is_obsolete: true
replaced_by: MONDO:0017048

[Term]
id: MONDO:0002690
name: obsolete meningioma
is_obsolete: true
replaced_by: MONDO:0016642

[Term]
id: MONDO:0002691
name: liver cancer
def: "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." [NCIT:C34803]
synonym: "Ca liver - primary" EXACT [DOID:3571]
synonym: "ca liver - primary" EXACT [DOID:3571]
synonym: "cancer of liver" EXACT [MONDO:patterns/cancer]
synonym: "hepatic cancer" EXACT [CSP2005:2003-2810, DOID:3571]
synonym: "hepatic neoplasm" EXACT [CSP2005:2003-2810, DOID:3571]
synonym: "liver cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hepato-biliary neoplasm" EXACT [DOID:3571]
synonym: "malignant liver neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of liver" EXACT [DOID:3571, MONDO:patterns/cancer]
synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [DOID:3571, ICD9CM_2006:155.2]
synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM_2006:155.0]
synonym: "malignant tumor of liver" EXACT [DOID:3571]
synonym: "neoplasm of liver" EXACT EXCLUDE [DOID:3571]
synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571]
synonym: "primary cancer of liver" RELATED [GARD:0006608]
synonym: "primary liver cancer" EXACT [DOID:3571]
synonym: "primary malignant liver neoplasm" EXACT [NCIT:C34803]
synonym: "primary malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C34803]
synonym: "primary tumor of the liver" RELATED [GARD:0006608]
synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C7692]
synonym: "resectable malignant neoplasm of the liver" EXACT [DOID:3571]
xref: DOID:3571 {source="MONDO:equivalentTo"}
xref: GARD:0006608 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:C22.0 {source="DOID:3571"}
xref: ICD10:C22.9 {source="DOID:3571"}
xref: ICD9:155.0 {source="DOID:3571"}
xref: ICD9:155.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:3571"}
xref: NCIT:C34803 {source="MONDO:equivalentTo", source="DOID:3571"}
xref: SCTID:93870000 {source="MONDO:equivalentTo", source="DOID:3571"}
xref: UMLS:C0024620 {source="NCIT:C34803", source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo", source="DOID:3571"}
xref: UMLS:C0345904 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="DOID:3571"}
xref: UMLS:C0854795 {source="MONDO:equivalentTo", source="DOID:3571", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002516 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! digestive system cancer
is_a: MONDO:0004721 ! liver neoplasm
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0024477 {source="NCIT:C34803"} ! liver and intrahepatic bile duct neoplasm
property_value: closeMatch http://identifiers.org/mesh/D008113
property_value: closeMatch http://identifiers.org/snomedct/154470007
property_value: closeMatch http://identifiers.org/snomedct/187768001
property_value: closeMatch http://identifiers.org/snomedct/187771009
property_value: closeMatch http://identifiers.org/snomedct/187779006
property_value: closeMatch http://identifiers.org/snomedct/269548006
property_value: closeMatch http://identifiers.org/snomedct/363361004
property_value: closeMatch http://identifiers.org/snomedct/95214007
property_value: closeMatch NCIT:C7692
property_value: exactMatch DOID:3571
property_value: exactMatch http://identifiers.org/snomedct/93870000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345904
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854795
property_value: exactMatch NCIT:C34803

[Term]
id: MONDO:0002692
name: intracranial sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects." [MESH:D012851]
xref: DOID:3572 {source="MONDO:equivalentTo"}
xref: MESH:D012851 {source="DOID:3572", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0037198 {source="DOID:3572", source="MONDO:equivalentTo"}
is_a: MONDO:0002907 {source="DOID:3572", source="MESH:D012851"} ! intracranial thrombosis
property_value: exactMatch DOID:3572
property_value: exactMatch http://identifiers.org/mesh/D012851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037198

[Term]
id: MONDO:0002693
name: lateral sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure." [MESH:D020227]
synonym: "thrombosis of lateral venous sinus" EXACT [DOID:3574]
synonym: "thrombosis transverse sinus" EXACT [DOID:3574]
xref: DOID:3574 {source="MONDO:equivalentTo"}
xref: MESH:D020227 {source="DOID:3574", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:192761004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:3574", source="MONDO:equivalentTo"}
xref: UMLS:C0270639 {source="DOID:3574", source="MONDO:equivalentTo"}
is_a: MONDO:0002692 {source="DOID:3574", source="MESH:D020227"} ! intracranial sinus thrombosis
property_value: closeMatch http://identifiers.org/snomedct/21258007
property_value: exactMatch DOID:3574
property_value: exactMatch http://identifiers.org/mesh/D020227
property_value: exactMatch http://identifiers.org/snomedct/192761004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270639

[Term]
id: MONDO:0002694
name: cavernous sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" [MESH:D020226]
synonym: "thrombosis of cavernous venous sinus" EXACT [DOID:3575]
xref: DOID:3575 {source="MONDO:equivalentTo"}
xref: MESH:D020226 {source="DOID:3575", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:89980009 {source="DOID:3575", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0238454 {source="DOID:3575", source="MONDO:equivalentTo"}
is_a: MONDO:0002692 {source="DOID:3575", source="MESH:D020226"} ! intracranial sinus thrombosis
property_value: exactMatch DOID:3575
property_value: exactMatch http://identifiers.org/mesh/D020226
property_value: exactMatch http://identifiers.org/snomedct/89980009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238454

[Term]
id: MONDO:0002695
name: sagittal sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma." [MESH:D020225]
synonym: "thrombosis of superior longitudinal sinus" EXACT [DOID:3576]
synonym: "thrombosis of superior sagittal sinus" EXACT [DOID:3576]
xref: DOID:3576 {source="MONDO:equivalentTo"}
xref: MESH:D020225 {source="DOID:3576", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:192760003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:3576", source="MONDO:equivalentTo"}
xref: UMLS:C0338575 {source="DOID:3576", source="MONDO:equivalentTo"}
is_a: MONDO:0002692 {source="DOID:3576", source="MESH:D020225"} ! intracranial sinus thrombosis
property_value: closeMatch http://identifiers.org/snomedct/70607008
property_value: exactMatch DOID:3576
property_value: exactMatch http://identifiers.org/mesh/D020225
property_value: exactMatch http://identifiers.org/snomedct/192760003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338575

[Term]
id: MONDO:0002696
name: Sertoli cell tumor
def: "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." [NCIT:C39976]
synonym: "Sertoli cell tumor" EXACT [NCIT:C39976]
synonym: "tubular androblastoma" EXACT [DOID:3577]
synonym: "tubular androblastoma NOS (morphologic abnormality)" EXACT [DOID:3577]
xref: DOID:3577 {source="MONDO:equivalentTo"}
xref: ICDO:8630/1 {source="NCIT:C39976"}
xref: ICDO:8640/1 {source="NCIT:C39976"}
xref: MESH:D012707 {source="DOID:3577", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C39976 {source="DOID:3577", source="MONDO:equivalentTo", source="NCIT:C39976"}
xref: UMLS:C0036769 {source="MEDGEN:kboom-pr98-c99", source="DOID:3577", source="MONDO:equivalentTo", source="NCIT:C39976"}
is_a: MONDO:0006055 {source="DOID:3577/inferred", source="NCIT:C39976"} ! sex cord-stromal tumor
property_value: closeMatch http://identifiers.org/snomedct/128857001
property_value: closeMatch http://identifiers.org/snomedct/189738002
property_value: closeMatch http://identifiers.org/snomedct/89089007
property_value: exactMatch DOID:3577
property_value: exactMatch http://identifiers.org/mesh/D012707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036769
property_value: exactMatch NCIT:C39976

[Term]
id: MONDO:0002697
name: ovarian gonadoblastoma (disease)
def: "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." [NCIT:C39985]
synonym: "GBY" BROAD [OMIM:424500]
synonym: "gonadoblastoma of ovary" EXACT [MONDO:design_pattern]
synonym: "gonadoblastoma; GBY" BROAD [OMIM:424500]
synonym: "ovarian gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39985]
synonym: "ovary gonadoblastoma" EXACT [MONDO:patterns/location]
xref: DOID:3578 {source="MONDO:equivalentTo"}
xref: EFO:1000420 {source="MONDO:equivalentTo"}
xref: HP:0000149 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C39985 {source="MONDO:equivalentTo", source="DOID:3578"}
xref: OMIM:424500 {source="DOID:3301", source="MONDO:equivalentTo", source="ORDO:206484/e", source="Orphanet:206484"}
xref: Orphanet:206484 {source="MONDO:equivalentTo", source="OMIM:424500"}
xref: SCTID:716594002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1518716 {source="MONDO:equivalentTo", source="DOID:3578", source="NCIT:C39985"}
is_a: MONDO:0008170 ! ovarian cancer
is_a: MONDO:0010768 {source="DOID:3578", source="MONDO:Redundant", source="MONDOLEX:0002697", source="NCIT:C39985"} ! gonadoblastoma
property_value: exactMatch DOID:3578
property_value: exactMatch http://identifiers.org/omim/424500
property_value: exactMatch http://identifiers.org/snomedct/716594002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518716
property_value: exactMatch NCIT:C39985
property_value: exactMatch Orphanet:206484

[Term]
id: MONDO:0002698
name: testicular gonadoblastoma (disease)
def: "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." [NCIT:C39911]
synonym: "gonadoblastoma of testis" EXACT [MONDO:design_pattern]
synonym: "testicular gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39911]
synonym: "testis gonadoblastoma" EXACT [MONDO:patterns/location]
xref: DOID:3579 {source="MONDO:equivalentTo"}
xref: HP:0000030 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C39911 {source="DOID:3579", source="MONDO:equivalentTo", source="NCIT:C39911"}
xref: UMLS:C1515283 {source="DOID:3579", source="MONDO:equivalentTo", source="NCIT:C39911"}
is_a: MONDO:0005447 ! testicular cancer
is_a: MONDO:0010768 {source="DOID:3579", source="MONDO:Redundant", source="MONDOLEX:0002698", source="NCIT:C39911", source="OWLReasoner:2017"} ! gonadoblastoma
property_value: exactMatch DOID:3579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515283
property_value: exactMatch NCIT:C39911

[Term]
id: MONDO:0002699
name: obsolete pancreatic ductal carcinoma
is_obsolete: true
replaced_by: MONDO:0005184

[Term]
id: MONDO:0002700
name: obsolete epithelioid trophoblastic tumor
is_obsolete: true
replaced_by: MONDO:0016787

[Term]
id: MONDO:0002701
name: ovarian mucinous cystadenocarcinoma
def: "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." [NCIT:C4026]
synonym: "mucinous cystadenocarcinoma of ovary" EXACT [NCIT:C4026]
synonym: "mucinous cystadenocarcinoma of the ovary" EXACT [NCIT:C4026]
synonym: "ovarian mucinous cystadenocarcinoma" EXACT [DOID:3604, NCIT:C4026]
synonym: "ovary mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3604 {source="MONDO:equivalentTo"}
xref: EFO:1001963 {source="MONDO:equivalentTo"}
xref: NCIT:C4026 {source="MONDO:equivalentTo", source="DOID:3604", source="exact-label-match"}
xref: SCTID:254851009 {source="MONDO:equivalentTo", source="DOID:3604", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279665 {source="MONDO:equivalentTo", source="NCIT:C4026", source="DOID:3604"}
is_a: MONDO:0002702 {source="DOID:3604", source="MONDO:Redundant", source="MONDOLEX:0002701", source="NCIT:C4026", source="linkedlifedata"} ! ovarian cystadenocarcinoma
is_a: MONDO:0005601 {source="MONDO:Redundant", source="NCIT:C4026"} ! ovarian mucinous adenocarcinoma
is_a: MONDO:0005858 {source="EFO:1001963", source="MONDO:Redundant", source="MONDOLEX:0002701", source="NCIT:C4026"} ! mucinous cystadenocarcinoma
property_value: exactMatch DOID:3604
property_value: exactMatch http://identifiers.org/snomedct/254851009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279665
property_value: exactMatch NCIT:C4026

[Term]
id: MONDO:0002702
name: ovarian cystadenocarcinoma
def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." [NCIT:C5228]
synonym: "cystadenocarcinoma of ovary" EXACT [NCIT:C5228]
synonym: "cystadenocarcinoma of the ovary" EXACT [DOID:3605, NCIT:C5228]
synonym: "ovarian cystadenocarcinoma" EXACT [NCIT:C5228]
synonym: "ovary cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3605 {source="MONDO:equivalentTo"}
xref: EFO:1001962 {source="MONDO:equivalentTo"}
xref: NCIT:C5228 {source="MONDO:equivalentTo", source="DOID:3605", source="exact-label-match"}
xref: SCTID:314191009 {source="MONDO:equivalentTo", source="DOID:3605", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1096638 {source="MONDO:equivalentTo", source="DOID:3605", source="NCIT:C5228"}
is_a: MONDO:0002752 {source="DOID:3605", source="EFO:1001962", source="MONDO:Redundant", source="MONDOLEX:0002702", source="NCIT:C5228"} ! ovarian adenocarcinoma
is_a: MONDO:0005596 {source="MONDO:Redundant", source="MONDOLEX:0002702", source="NCIT:C5228"} ! cystadenocarcinoma
property_value: exactMatch DOID:3605
property_value: exactMatch http://identifiers.org/snomedct/314191009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096638
property_value: exactMatch NCIT:C5228

[Term]
id: MONDO:0002703
name: appendix mucinous cystadenocarcinoma
def: "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." [NCIT:C5511]
synonym: "appendiceal colloid cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendiceal colloidal cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendiceal mucinous cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix colloid cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix colloidal cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix mucinous cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "colloid cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "colloid cystadenocarcinoma of the appendix" EXACT [NCIT:C5511]
synonym: "colloidal cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "colloidal cystadenocarcinoma of the appendix" EXACT [DOID:3607, NCIT:C5511]
synonym: "mucinous cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "mucinous cystadenocarcinoma of the appendix" EXACT [NCIT:C5511]
synonym: "vermiform appendix mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3607 {source="MONDO:equivalentTo"}
xref: NCIT:C5511 {source="MONDO:equivalentTo", source="DOID:3607", source="exact-label-match"}
xref: UMLS:C1096639 {source="MONDO:equivalentTo", source="NCIT:C5511", source="DOID:3607"}
is_a: MONDO:0005858 {source="DOID:3607", source="MONDO:Redundant", source="MONDOLEX:0002703", source="NCIT:C5511"} ! mucinous cystadenocarcinoma
is_a: MONDO:0018330 {source="MONDO:Redundant", source="NCIT:C5511"} ! mucinous adenocarcinoma of the appendix
property_value: exactMatch DOID:3607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096639
property_value: exactMatch NCIT:C5511

[Term]
id: MONDO:0002704
name: obsolete appendix adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006087

[Term]
id: MONDO:0002705
name: breast mucinous cystadenocarcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified." [NCIT:C40354]
synonym: "breast mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40354]
xref: DOID:3609 {source="MONDO:equivalentTo"}
xref: NCIT:C40354 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3609"}
xref: UMLS:C1511318 {source="MONDO:equivalentTo", source="NCIT:C40354", source="DOID:3609"}
is_a: MONDO:0004988 {source="DOID:3609/inferred", source="MONDO:Redundant", source="NCIT:C40354"} ! breast adenocarcinoma
is_a: MONDO:0005858 {source="DOID:3609", source="MONDO:Redundant", source="MONDOLEX:0002705", source="NCIT:C40354"} ! mucinous cystadenocarcinoma
relationship: excluded_subClassOf MONDO:0002707 {source="DOID:3609"} ! breast mucinous carcinoma
property_value: exactMatch DOID:3609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511318
property_value: exactMatch NCIT:C40354

[Term]
id: MONDO:0002706
name: cervix endometriosis
def: "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding." [NCIT:C27623]
synonym: "cervical endometriosis" EXACT [DOID:361, NCIT:C27623]
synonym: "endometriosis (disease) of uterine cervix" EXACT []
synonym: "endometriosis of cervix" EXACT [DOID:361]
synonym: "uterine cervix endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:361 {source="MONDO:equivalentTo"}
xref: NCIT:C27623 {source="MONDO:equivalentTo", source="DOID:361", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:61640006 {source="MONDO:equivalentTo", source="DOID:361", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0269107 {source="MONDO:equivalentTo", source="DOID:361", source="NCIT:C27623"}
is_a: MONDO:0002256 {source="DOID:361", source="MONDO:Redundant", source="NCIT:C27623/inferred", source="linkedlifedata"} ! cervix disease
is_a: MONDO:0005133 {source="MONDO:Redundant", source="NCIT:C27623", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
property_value: exactMatch DOID:361
property_value: exactMatch http://identifiers.org/snomedct/61640006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269107
property_value: exactMatch NCIT:C27623

[Term]
id: MONDO:0002707
name: breast mucinous carcinoma
def: "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." [NCIT:P378]
synonym: "breast invasive mixed mucinous carcinoma" RELATED [ONCOTREE:IMMC]
synonym: "breast mucinous carcinoma" EXACT [NCIT:C9131]
synonym: "colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "colloid carcinoma of breast" EXACT [NCIT:C9131]
synonym: "colloid carcinoma of the breast" EXACT [NCIT:C9131]
synonym: "infiltrating colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "infiltrating mucinous breast carcinoma" EXACT [NCIT:C9131]
synonym: "invasive colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "invasive mucinous breast carcinoma" EXACT [DOID:3610, NCIT:C9131]
synonym: "mucinous breast cancer" EXACT [NCIT:C9131]
synonym: "mucinous breast carcinoma" EXACT [NCIT:C9131]
synonym: "mucinous carcinoma of breast" EXACT [DOID:3610, NCIT:C9131]
synonym: "mucinous carcinoma of the breast" EXACT [NCIT:C9131]
xref: DOID:3610 {source="MONDO:equivalentTo"}
xref: NCIT:C9131 {source="DOID:3610", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:IMMC {source="MONDO:equivalentTo"}
xref: SCTID:444712000 {source="MONDO:kboom-pr-1.00/0.81/10.92", source="DOID:3610", source="MONDO:equivalentTo"}
xref: UMLS:C1334807 {source="DOID:3610", source="MONDO:equivalentTo", source="NCIT:C9131"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
is_a: MONDO:0004957 {source="MONDOLEX:0002707", source="NCIT:C9131"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3610
property_value: exactMatch http://identifiers.org/snomedct/444712000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334807
property_value: exactMatch NCIT:C9131

[Term]
id: MONDO:0002708
name: retinitis
def: "Inflammation of the retina." [NCIT:P378]
synonym: "inflammation of retina" EXACT []
synonym: "retina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3612 {source="MONDO:equivalentTo"}
xref: ICD10:H30.9 {source="DOID:3612"}
xref: MESH:D012173 {source="DOID:3612", source="MONDO:equivalentTo"}
xref: NCIT:C115993 {source="DOID:3612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:399463004 {source="DOID:3612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0035333 {source="DOID:3612", source="MONDO:equivalentTo", source="NCIT:C115993"}
is_a: MONDO:0005283 {source="DOID:3612", source="MESH:D012173", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
is_a: MONDO:0006918 ! posterior uveitis
property_value: closeMatch http://identifiers.org/snomedct/193450000
property_value: closeMatch http://identifiers.org/snomedct/35426003
property_value: exactMatch DOID:3612
property_value: exactMatch http://identifiers.org/mesh/D012173
property_value: exactMatch http://identifiers.org/snomedct/399463004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035333
property_value: exactMatch NCIT:C115993

[Term]
id: MONDO:0002709
name: obsolete Kallmann syndrome
is_obsolete: true
replaced_by: MONDO:0018800

[Term]
id: MONDO:0002710
name: infiltrating angiolipoma
def: "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." [NCIT:P378]
synonym: "angiolipoma, infiltrating" EXACT [DOID:3615]
synonym: "angiolipoma, infiltrating (morphologic abnormality)" EXACT [DOID:3615]
synonym: "infiltrating angiolipoma" EXACT [DOID:3615]
xref: DOID:3615 {source="MONDO:equivalentTo"}
xref: NCIT:C7449 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:3615"}
xref: UMLS:C1305256 {source="MONDO:equivalentTo", source="DOID:3615", source="NCIT:C7449"}
is_a: MONDO:0004075 ! infiltrating lipoma
is_a: MONDO:0006085 {source="DOID:3615", source="MONDOLEX:0002710", source="NCIT:C7449"} ! angiolipoma
property_value: closeMatch http://identifiers.org/snomedct/189781004
property_value: closeMatch http://identifiers.org/snomedct/24045002
property_value: exactMatch DOID:3615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305256
property_value: exactMatch NCIT:C7449

[Term]
id: MONDO:0002711
name: obsolete angiolipoma
is_obsolete: true
replaced_by: MONDO:0006085

[Term]
id: MONDO:0002712
name: epidural spinal canal angiolipoma
def: "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." [NCIT:P378]
synonym: "angiolipoma of epidural space" EXACT [MONDO:design_pattern]
synonym: "angiolipoma of epidural spinal canal" EXACT [NCIT:C5424]
synonym: "angiolipoma of extradural spinal canal" EXACT [DOID:3617, NCIT:C5424]
synonym: "angiolipoma of the epidural spinal canal" EXACT [NCIT:C5424]
synonym: "angiolipoma of the extradural spinal canal" EXACT [NCIT:C5424]
synonym: "epidural space angiolipoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "extradural spinal canal angiolipoma" EXACT [NCIT:C5424]
xref: DOID:3617 {source="MONDO:equivalentTo"}
xref: NCIT:C5424 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3617"}
xref: UMLS:C1333416 {source="MONDO:equivalentTo", source="NCIT:C5424", source="DOID:3617"}
is_a: MONDO:0002713 {source="DOID:3617", source="MONDO:Redundant", source="NCIT:C5424"} ! epidural spinal canal neoplasm
is_a: MONDO:0006085 {source="DOID:3617", source="MONDO:Redundant", source="MONDOLEX:0002712", source="NCIT:C5424/inferred"} ! angiolipoma
relationship: excluded_subClassOf MONDO:0001790 {source="DOID:3617"} ! spinal cord lipoma
property_value: exactMatch DOID:3617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333416
property_value: exactMatch NCIT:C5424

[Term]
id: MONDO:0002713
name: epidural spinal canal neoplasm
def: "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord." [NCIT:C3019]
synonym: "epidural neoplasm" EXACT [NCIT:C3019]
synonym: "epidural space neoplasm" EXACT []
synonym: "epidural space tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "epidural spinal canal neoplasm" EXACT [NCIT:C3019]
synonym: "epidural spinal canal tumor" EXACT [NCIT:C3019]
synonym: "epidural spinal canal tumors" EXACT [NCIT:C3019]
synonym: "epidural spinal neoplasms" EXACT [NCIT:C3019]
synonym: "epidural spinal tumors" EXACT [NCIT:C3019]
synonym: "epidural tumor" EXACT [NCIT:C3019]
synonym: "extradural neoplasm" EXACT [NCIT:C3019]
synonym: "extradural spinal canal neoplasm" EXACT [NCIT:C3019]
synonym: "extradural spinal canal neoplasms" EXACT [NCIT:C3019]
synonym: "extradural spinal canal tumor" EXACT [NCIT:C3019]
synonym: "extradural spinal neoplasms" EXACT [NCIT:C3019]
synonym: "extradural spinal tumors" EXACT [NCIT:C3019]
synonym: "extradural tumor" EXACT [DOID:3618, NCIT:C3019]
synonym: "neoplasm of epidural space" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epidural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of extradural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of the epidural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of the extradural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of epidural space" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of epidural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of extradural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of the epidural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of the extradural spinal canal" EXACT [NCIT:C3019]
xref: DOID:3618 {source="MONDO:equivalentTo"}
xref: EFO:1000923 {source="MONDO:equivalentTo"}
xref: MESH:D015174 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3618"}
xref: NCIT:C3019 {source="MONDO:equivalentTo", source="DOID:3618"}
xref: UMLS:C0014536 {source="MONDO:equivalentTo", source="DOID:3618", source="NCIT:C3019"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0005070 {source="DOID:3618/inferred", source="EFO:1000923/inferred", source="MESH:D015174/inferred", source="MONDO:Redundant", source="MONDOLEX:0002713", source="NCIT:C3019/inferred"} ! neoplasm (disease)
property_value: exactMatch DOID:3618
property_value: exactMatch http://identifiers.org/mesh/D015174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014536
property_value: exactMatch NCIT:C3019

[Term]
id: MONDO:0002714
name: central nervous system cancer
def: "A malignant neoplasm involving the central nervous system" [MONDO:DesignPattern]
synonym: "cancer of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "cancer of CNS" EXACT [NCIT:C4627]
synonym: "cancer of the central nervous system" EXACT [NCIT:C4627]
synonym: "cancer of the CNS" EXACT [NCIT:C4627]
synonym: "central nervous system cancer" EXACT [MONDO:patterns/location, NCIT:C4627]
synonym: "central nervous system neoplasms, malignant" EXACT [NCIT:C4627]
synonym: "central nervous system tumor" EXACT [DOID:3620]
synonym: "central nervous system tumors" EXACT [DOID:3620, NCIT:C9293]
synonym: "CNS cancer" EXACT [NCIT:C4627]
synonym: "CNS malignant neoplasms" EXACT [NCIT:C4627]
synonym: "CNS neoplasm" EXACT [CSP2005:2012-5421, DOID:3620]
synonym: "CNS neoplasms, malignant" EXACT [NCIT:C4627]
synonym: "malignant central nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "malignant central nervous system tumor" EXACT [NCIT:C4627]
synonym: "malignant CNS neoplasm" EXACT [NCIT:C4627]
synonym: "malignant CNS neoplasms" EXACT [NCIT:C4627]
synonym: "malignant CNS tumor" EXACT [NCIT:C4627]
synonym: "malignant neoplasm of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "malignant neoplasm of central nervous system, NOS" RELATED EXCLUDE [DOID:3620]
synonym: "malignant neoplasm of CNS" EXACT [NCIT:C4627]
synonym: "malignant neoplasm of the central nervous system" EXACT [NCIT:C4627]
synonym: "malignant neoplasm of the CNS" EXACT [NCIT:C4627]
synonym: "malignant tumor of central nervous system" EXACT [NCIT:C4627]
synonym: "malignant tumor of CNS" EXACT [DOID:3620, NCIT:C4627]
synonym: "malignant tumor of the central nervous system" EXACT [NCIT:C4627]
synonym: "malignant tumor of the CNS" EXACT [NCIT:C4627]
synonym: "neoplasm of central nervous system" EXACT EXCLUDE [DOID:3620]
xref: DOID:3620 {source="MONDO:equivalentTo"}
xref: EFO:0000326 {source="DOID:3620", source="MONDO:equivalentTo"}
xref: ICD10:C72.9 {source="DOID:3620"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016543 {source="DOID:3620", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4627 {source="DOID:3620", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.23"}
xref: SCTID:126951006 {source="MONDO:kboom-pr-0.90/0.76/0.52", source="DOID:3620", source="MONDO:equivalentTo"}
is_a: MONDO:0005872 {source="DOID:3620", source="MESH:D016543", source="MONDO:Redundant", source="MONDOLEX:0002714", source="NCIT:C4627"} ! nervous system cancer
is_a: MONDO:0006130 ! central nervous system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/190135002
property_value: closeMatch http://identifiers.org/snomedct/372062007
property_value: closeMatch http://identifiers.org/snomedct/93744007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085136
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348374
property_value: exactMatch DOID:3620
property_value: exactMatch http://identifiers.org/mesh/D016543
property_value: exactMatch http://identifiers.org/snomedct/126951006
property_value: exactMatch NCIT:C4627

[Term]
id: MONDO:0002715
name: uterine cancer
def: "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." [NCIT:C3552]
synonym: "CA - cancer of uterus" EXACT [DOID:363]
synonym: "cancer of the uterus" EXACT [NCIT:C3552]
synonym: "cancer of uterus" EXACT [MONDO:patterns/cancer, NCIT:C3552]
synonym: "malignant neoplasm of the uterus" EXACT [NCIT:C3552]
synonym: "malignant neoplasm of uterus" EXACT [DOID:363, MONDO:patterns/cancer, NCIT:C3552]
synonym: "malignant tumor of the uterus" EXACT [NCIT:C3552]
synonym: "malignant tumor of uterus" EXACT [NCIT:C3552]
synonym: "malignant uterine neoplasm" EXACT [NCIT:C3552]
synonym: "malignant uterine tumor" EXACT [DOID:363, NCIT:C3552]
synonym: "malignant uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of uterus" BROAD [DOID:363]
synonym: "tumour of uterus" BROAD [DOID:363]
synonym: "uterine cancer" EXACT [NCIT:C3552]
synonym: "uterine cancer, NOS" RELATED EXCLUDE [NCIT:C3552]
synonym: "uterine tumor" BROAD [DOID:363, NCIT:C3435]
synonym: "uterus cancer" EXACT [MONDO:patterns/location]
synonym: "uterus neoplasm" BROAD [CSP2005:2016-1566, DOID:363]
xref: COHD:197230 {source="MONDO:equivalentTo"}
xref: DOID:363 {source="MONDO:equivalentTo"}
xref: ICD10:C55 {source="DOID:363"}
xref: ICD9:179 {source="MONDO:equivalentTo", source="i2s", source="DOID:363"}
xref: MESH:D014594 {source="MONDO:equivalentTo", source="DOID:363", source="MONDO:ontobio"}
xref: NCIT:C3552 {source="MONDO:equivalentTo", source="DOID:363", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:371973000 {source="MONDO:equivalentTo", source="DOID:363", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0001416 {source="DOID:363", source="NCIT:C3552", source="linkedlifedata/inferred"} ! female reproductive organ cancer
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3552", source="linkedlifedata"} ! tumor of uterus
property_value: closeMatch http://identifiers.org/snomedct/156169001
property_value: closeMatch http://identifiers.org/snomedct/188173004
property_value: closeMatch http://identifiers.org/snomedct/269613007
property_value: closeMatch http://identifiers.org/snomedct/93718007
property_value: closeMatch http://identifiers.org/snomedct/94127009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042138
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153567
property_value: exactMatch DOID:363
property_value: exactMatch http://identifiers.org/mesh/D014594
property_value: exactMatch http://identifiers.org/snomedct/371973000
property_value: exactMatch NCIT:C3552

[Term]
id: MONDO:0002716
name: childhood spinal cord tumor
def: "A benign or malignant neoplasm affecting the spinal cord during childhood." [NCIT:P378]
synonym: "childhood spinal cord neoplasm" EXACT [DOID:3637, NCIT:C9234]
synonym: "pediatric spinal cord neoplasm" EXACT [MONDO:patterns/childhood]
synonym: "pediatric spinal cord neoplasm" RELATED [MONDO:patterns/childhood]
synonym: "spinal cord neoplasm of childhood" EXACT [MONDO:patterns/childhood]
xref: DOID:3637 {source="MONDO:equivalentTo"}
xref: NCIT:C9234 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.92/2.48", source="DOID:3637"}
xref: UMLS:C1134515 {source="NCIT:C9234", source="MONDO:equivalentTo", source="DOID:3637"}
is_a: MONDO:0021079 ! childhood neoplasm
is_a: MONDO:0021234 ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3637"} ! spinal cord cancer
property_value: exactMatch DOID:3637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1134515
property_value: exactMatch NCIT:C9234

[Term]
id: MONDO:0002717
name: spinal cord intramedullary teratoma
synonym: "intramedullary spinal cord teratoma" EXACT [NCIT:C5428]
synonym: "intramedullary spinal teratoma" EXACT [DOID:3639, NCIT:C5428]
synonym: "intramedullary teratoma of spinal cord" EXACT [NCIT:C5428]
synonym: "intramedullary teratoma of the spinal cord" EXACT [NCIT:C5428]
xref: DOID:3639 {source="MONDO:equivalentTo"}
xref: NCIT:C5428 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3639"}
xref: UMLS:C1334259 {source="MONDO:equivalentTo", source="NCIT:C5428", source="DOID:3639"}
is_a: MONDO:0002718 {source="NCIT:C5428"} ! central nervous system teratoma
is_a: MONDO:0021506 {source="NCIT:C5428"} ! benign neoplasm of spinal cord
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3639"} ! spinal cord cancer
property_value: exactMatch DOID:3639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334259
property_value: exactMatch NCIT:C5428

[Term]
id: MONDO:0002718
name: central nervous system teratoma
def: "A mature or immature teratoma that affects the central nervous system." [NCIT:C5441]
subset: ordo_clinical_subtype {source="Orphanet:252018"}
synonym: "central nervous system teratoma" EXACT [MONDO:patterns/location, NCIT:C5441]
synonym: "CNS teratoma" EXACT [DOID:3640, NCIT:C5441]
synonym: "teratoma of central nervous system" EXACT [NCIT:C5441]
synonym: "teratoma of CNS" EXACT [NCIT:C5441]
synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441]
synonym: "teratoma of the CNS" EXACT [NCIT:C5441]
xref: DOID:3640 {source="MONDO:equivalentTo"}
xref: NCIT:C5441 {source="DOID:3640", source="MONDO:equivalentTo"}
xref: Orphanet:252018 {source="MONDO:equivalentTo"}
xref: UMLS:C1332895 {source="DOID:3640", source="NCIT:C5441", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441"} ! teratoma
is_a: MONDO:0016738 {source="Orphanet:252018"} ! primary germ cell tumor of central nervous system
is_a: MONDO:0019500 {source="Orphanet:252018"} ! extragonadal teratoma
is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor
property_value: exactMatch DOID:3640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332895
property_value: exactMatch NCIT:C5441
property_value: exactMatch Orphanet:252018

[Term]
id: MONDO:0002719
name: conus medullaris neoplasm
def: "A neoplasm (disease) that involves the conus medullaris." [MONDO:patterns/location]
synonym: "conus medullaris neoplasm" EXACT [NCIT:C5443]
synonym: "conus medullaris neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "conus medullaris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "neoplasm of conus medullaris" EXACT [MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "neoplasm of the conus medullaris" EXACT [NCIT:C5443]
synonym: "tumor of conus medullaris" EXACT [DOID:3641, MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "tumor of the conus medullaris" EXACT [NCIT:C5443]
xref: DOID:3641 {source="MONDO:equivalentTo"}
xref: NCIT:C5443 {source="DOID:3641", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333153 {source="DOID:3641", source="MONDO:equivalentTo", source="NCIT:C5443"}
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C5443"} ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3641"} ! spinal cord cancer
property_value: exactMatch DOID:3641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333153
property_value: exactMatch NCIT:C5443

[Term]
id: MONDO:0002720
name: sella turcica neoplasm
def: "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." [NCIT:C4944]
synonym: "neoplasm of sella turcica" EXACT [NCIT:C4944]
synonym: "neoplasm of the sella turcica" EXACT [NCIT:C4944]
synonym: "sella turcica neoplasm" EXACT [NCIT:C4944]
synonym: "sella turcica tumor" EXACT [NCIT:C4944]
synonym: "sellar neoplasm" EXACT [NCIT:C4944]
synonym: "sellar tumor" EXACT [NCIT:C4944]
synonym: "selt" RELATED [ONCOTREE:SELT]
synonym: "tumor of sella turcica" EXACT [DOID:3643, NCIT:C4944]
synonym: "tumor of the sella turcica" EXACT [NCIT:C4944]
xref: DOID:3643 {source="MONDO:equivalentTo"}
xref: NCIT:C4944 {source="DOID:3643", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SELT {source="MONDO:equivalentTo"}
xref: UMLS:C0748616 {source="DOID:3643", source="MONDO:equivalentTo", source="NCIT:C4944"}
is_a: MONDO:0002785 {source="DOID:3643", source="NCIT:C4944"} ! skull base neoplasm
property_value: exactMatch DOID:3643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748616
property_value: exactMatch NCIT:C4944

[Term]
id: MONDO:0002721
name: necrosis of pituitary
def: "Ischemic or hemorrhagic necrosis of the pituitary gland." [NCIT:P378]
synonym: "pituitary gland Necrosis" EXACT [NCIT:C27066]
synonym: "pituitary necrosis" EXACT [DOID:3646, NCIT:C27066]
xref: DOID:3646 {source="MONDO:equivalentTo"}
xref: NCIT:C27066 {source="MONDO:equivalentTo", source="DOID:3646", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:59572000 {source="MONDO:equivalentTo", source="DOID:3646", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271558 {source="NCIT:C27066", source="MONDO:equivalentTo", source="DOID:3646"}
is_a: MONDO:0003381 {source="DOID:3646", source="NCIT:C27066/inferred", source="linkedlifedata"} ! pituitary gland disease
property_value: exactMatch DOID:3646
property_value: exactMatch http://identifiers.org/snomedct/59572000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271558
property_value: exactMatch NCIT:C27066

[Term]
id: MONDO:0002722
name: olfactory nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell." [NCIT:C5121]
synonym: "cranial nerve I neoplasms" EXACT [NCIT:C5121]
synonym: "first cranial nerve neoplasm" EXACT [NCIT:C5121]
synonym: "first cranial nerve neoplasms" EXACT [NCIT:C5121]
synonym: "first cranial nerve tumor" EXACT [NCIT:C5121]
synonym: "neoplasm of first cranial nerve" EXACT [NCIT:C5121]
synonym: "neoplasm of olfactory nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "neoplasm of the first cranial nerve" EXACT [NCIT:C5121]
synonym: "neoplasm of the olfactory nerve" EXACT [NCIT:C5121]
synonym: "neoplasms, cranial nerve I" EXACT [NCIT:C5121]
synonym: "neoplasms, olfactory nerve" EXACT [NCIT:C5121]
synonym: "olfactory nerve neoplasm" EXACT [NCIT:C5121]
synonym: "olfactory nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "olfactory nerve neoplasms" EXACT [NCIT:C5121]
synonym: "olfactory nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "olfactory neural neoplasm" EXACT [NCIT:C5121]
synonym: "olfactory neural tumor" EXACT [NCIT:C5121]
synonym: "tumor of first cranial nerve" EXACT [NCIT:C5121]
synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121]
synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121]
xref: DOID:366 {source="MONDO:equivalentTo"}
xref: DOID:8256 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5121 {source="MONDO:equivalentTo", source="DOID:366"}
xref: SCTID:126967000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:366"}
xref: UMLS:C0346319 {source="NCIT:C5121", source="MONDO:equivalentTo", source="DOID:366"}
is_a: MONDO:0002633 {source="DOID:366/inferred", source="DOID:8256/inferred", source="MONDO:Redundant", source="NCIT:C5121", source="linkedlifedata"} ! cranial nerve neoplasm
is_a: MONDO:0002727 {source="MONDO:Redundant", source="NCIT:C5121", source="OWLReasoner:2017", source="linkedlifedata"} ! olfactory nerve disease
is_a: MONDO:0021211 ! brain neoplasm
relationship: excluded_subClassOf MONDO:0002722 {source="DOID:8256"} ! olfactory nerve neoplasm
property_value: exactMatch DOID:366
property_value: exactMatch DOID:8256
property_value: exactMatch http://identifiers.org/snomedct/126967000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346319
property_value: exactMatch NCIT:C5121

[Term]
id: MONDO:0002723
name: obsolete cutaneous mastocytosis (disease)
is_obsolete: true
replaced_by: MONDO:0019023

[Term]
id: MONDO:0002724
name: mast cell neoplasm
def: "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" [NCIT:C9295]
synonym: "mast cell neoplasm" EXACT [NCIT:C9295]
synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295]
synonym: "Mast cell tumor" EXACT [NCIT:C9295]
synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295]
synonym: "mastocytoma" EXACT EXCLUDE [DOID:3664]
synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295]
synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295]
synonym: "tumor of Mast cells" EXACT [NCIT:C9295]
synonym: "tumor of the Mast cells" EXACT [NCIT:C9295]
xref: DOID:3664 {source="MONDO:equivalentTo"}
xref: EFO:0009000 {source="MONDO:equivalentTo"}
xref: ICD10:D47.0 {source="DOID:3664"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9295 {source="DOID:3664", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:414653009 {source="DOID:3664", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334664 {source="MEDGEN:kboom-pr98-c99", source="DOID:3664", source="MONDO:equivalentTo", source="NCIT:C9295"}
is_a: MONDO:0005170 {source="EFO:0009000", source="NCIT:C9295"} ! myeloid neoplasm
property_value: closeMatch http://identifiers.org/snomedct/127581004
property_value: closeMatch http://identifiers.org/snomedct/190021001
property_value: closeMatch http://identifiers.org/snomedct/89796001
property_value: exactMatch DOID:3664
property_value: exactMatch http://identifiers.org/snomedct/414653009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334664
property_value: exactMatch NCIT:C9295

[Term]
id: MONDO:0002725
name: obsolete diffuse cutaneous mastocytosis
is_obsolete: true
replaced_by: MONDO:0019315

[Term]
id: MONDO:0002726
name: cutaneous solitary mastocytoma
def: "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." [MESH:D054705]
synonym: "skin solitary mastocytoma" EXACT [NCIT:C7138]
synonym: "solitary mastocytoma" EXACT EXCLUDE [DOID:3666]
synonym: "solitary mastocytoma of skin" EXACT [DOID:3666, NCIT:C7138]
synonym: "solitary mastocytoma of the skin" EXACT [NCIT:C7138]
xref: DOID:3666 {source="MONDO:equivalentTo"}
xref: EFO:1001844 {source="MONDO:equivalentTo"}
xref: ICDO:9740/1 {source="NCIT:C7138"}
xref: MESH:D054705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7138 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.64"}
is_a: MONDO:0002724 {source="DOID:3666", source="EFO:1001844/inferred", source="NCIT:C7138/inferred"} ! mast cell neoplasm
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:3666"} ! skin cancer
property_value: exactMatch DOID:3666
property_value: exactMatch http://identifiers.org/mesh/D054705
property_value: exactMatch NCIT:C7138

[Term]
id: MONDO:0002727
name: olfactory nerve disease
def: "A disease involving the olfactory nerve." [MONDO:DesignPattern]
synonym: "disease of olfactory nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of olfactory nerve" EXACT []
synonym: "disorder of 1st nerve" EXACT [DOID:367, MTHICD9_2006:352.0, NCIT:C27210]
synonym: "disorder of olfactory [1st] nerve" EXACT [DOID:367, ICD9CM_2006:352.0]
synonym: "disorder of olfactory nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of olfactory nerve" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the 1st nerve" EXACT [NCIT:C27210]
synonym: "olfactory nerve disease" EXACT [MONDO:patterns/location]
synonym: "olfactory nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "olfactory nerve disorder" EXACT [NCIT:C27210]
xref: COHD:435253 {source="MONDO:equivalentTo"}
xref: DOID:367 {source="MONDO:equivalentTo"}
xref: ICD10:G52.0 {source="DOID:367"}
xref: ICD9:352.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:367"}
xref: MESH:D020431 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:367"}
xref: NCIT:C27210 {source="MONDO:equivalentTo", source="DOID:367", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:68982002 {source="MONDO:equivalentTo", source="DOID:367", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751937 {source="NCIT:C27210", source="MONDO:equivalentTo", source="DOID:367"}
is_a: MONDO:0003569 {source="DOID:367/inferred", source="MESH:D020431", source="MONDO:Redundant", source="NCIT:C27210", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
is_a: MONDO:0005560 {source="DOID:367", source="linkedlifedata"} ! brain disease
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:367"} ! glossopharyngeal nerve disease
property_value: exactMatch DOID:367
property_value: exactMatch http://identifiers.org/mesh/D020431
property_value: exactMatch http://identifiers.org/snomedct/68982002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751937
property_value: exactMatch NCIT:C27210

[Term]
id: MONDO:0002728
name: rhabdoid tumor
def: "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." [NCIT:C3808]
subset: ordo_disease {source="Orphanet:69077"}
synonym: "malignant rhabdoid tumor" EXACT [Orphanet:69077]
synonym: "malignant rhabdoid tumour" EXACT [DOID:3672, MONDO:0005548]
synonym: "rhabdoid cancer" RELATED [DOID:3672]
synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808]
synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808]
xref: DOID:3672 {source="MONDO:equivalentTo"}
xref: EFO:0005701 {source="MONDO:equivalentTo"}
xref: GARD:0007572 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C49.9 {source="ORDO:69077/ntbt", source="Orphanet:69077"}
xref: ICDO:8963/3 {source="NCIT:C3808"}
xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="ORDO:69077/e", source="Orphanet:69077"}
xref: NCIT:C3808 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701"}
xref: ONCOTREE:MRT {source="MONDO:equivalentTo"}
xref: Orphanet:69077 {source="MONDO:equivalentTo"}
xref: UMLS:C0206743 {source="DOID:3672", source="NCIT:C3808", source="MONDO:equivalentTo", source="ORDO:69077/e", source="Orphanet:69077"}
is_a: MONDO:0005564 {source="EFO:0005701", source="NCIT:C3808"} ! embryonal neoplasm
is_a: MONDO:0018078 {source="Orphanet:69077"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189812005
property_value: closeMatch http://identifiers.org/snomedct/83118000
property_value: exactMatch DOID:3672
property_value: exactMatch http://identifiers.org/mesh/D018335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206743
property_value: exactMatch NCIT:C3808
property_value: exactMatch Orphanet:69077

[Term]
id: MONDO:0002729
name: rhabdoid tumor of the kidney
def: "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." [NCIT:C8715]
synonym: "kidney rhabdoid cancer" RELATED [DOID:3674]
synonym: "kidney rhabdoid tumor" EXACT [DOID:3674, MONDO:patterns/location, NCIT:C8715]
synonym: "malignant rhabdoid tumor of kidney" EXACT [NCIT:C8715]
synonym: "malignant rhabdoid tumor of the kidney" EXACT [NCIT:C8715]
synonym: "MRTK" EXACT [NCIT:C8715]
synonym: "renal rhabdoid neoplasm" EXACT [NCIT:C8715]
synonym: "renal rhabdoid tumor" EXACT [DOID:3674, NCIT:C8715]
synonym: "rhabdoid neoplasm of kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid neoplasm of the kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid tumor of the kidney" EXACT [MONDO:0006399, NCIT:C8715]
synonym: "rhabdoid tumor of the kidney (RTK)" EXACT [NCIT:C8715]
synonym: "rhabdoid tumour of kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid tumour of the kidney" EXACT [NCIT:C8715]
xref: DOID:3674 {source="MONDO:equivalentTo"}
xref: EFO:1000512 {source="MONDO:equivalentTo"}
xref: NCIT:C8715 {source="DOID:3674", source="MONDO:equivalentTo", source="EFO:1000512"}
xref: UMLS:C0854917 {source="DOID:3674", source="MONDO:equivalentTo", source="NCIT:C8715"}
is_a: MONDO:0002728 {source="DOID:3674", source="MONDO:Redundant", source="NCIT:C8715"} ! rhabdoid tumor
is_a: MONDO:0002930 ! kidney sarcoma
property_value: exactMatch DOID:3674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854917
property_value: exactMatch NCIT:C8715

[Term]
id: MONDO:0002730
name: childhood kidney neoplasm
def: "A kidney neoplasm that occurs during childhood." [MONDO:design_pattern]
synonym: "childhood kidney neoplasm" EXACT [NCIT:C6563]
synonym: "childhood kidney tumor" EXACT [NCIT:C6563]
synonym: "childhood renal neoplasm" EXACT [NCIT:C6563]
synonym: "childhood renal tumor" EXACT [NCIT:C6563]
synonym: "kidney neoplasm" EXACT [NCIT:C6563]
synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric kidney neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C6563]
synonym: "pediatric kidney neoplasm" RELATED [MONDO:patterns/childhood]
synonym: "pediatric kidney tumor" EXACT [NCIT:C6563]
synonym: "pediatric renal neoplasm" EXACT [NCIT:C6563]
synonym: "pediatric renal tumor" EXACT [DOID:3675, NCIT:C6563]
xref: DOID:3675 {source="MONDO:equivalentTo"}
xref: NCIT:C6563 {source="DOID:3675", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333003 {source="DOID:3675", source="NCIT:C6563", source="MONDO:equivalentTo"}
is_a: MONDO:0021079 {source="MONDO:Redundant", source="MONDOLEX:0002730", source="NCIT:C6563"} ! childhood neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C6563"} ! kidney neoplasm
relationship: excluded_subClassOf MONDO:0002367 {source="DOID:3675"} ! kidney cancer
property_value: exactMatch DOID:3675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333003
property_value: exactMatch NCIT:C6563

[Term]
id: MONDO:0002731
name: cerebral hemisphere cancer
def: "A cancer that involves the cerebral hemisphere." [MONDO:patterns/location]
synonym: "cancer of cerebral hemisphere" EXACT [MONDO:patterns/cancer]
synonym: "cancer of telencephalon" EXACT [MONDO:patterns/cancer]
synonym: "cerebral cancer" EXACT [DOID:368, NCIT:C4577]
synonym: "cerebrum cancer" RELATED [DOID:368]
synonym: "malignant cerebral hemisphere neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant cerebral hemispheric neoplasm" EXACT [NCIT:C4577]
synonym: "malignant cerebral hemispheric tumor" EXACT [NCIT:C4577]
synonym: "malignant cerebral neoplasm" EXACT [NCIT:C4577]
synonym: "malignant cerebral tumor" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of cerebrum" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of telencephalon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of the cerebrum" EXACT [NCIT:C4577]
synonym: "malignant telencephalon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant tumor of cerebrum" EXACT [NCIT:C4577]
synonym: "malignant tumor of the cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant tumor of the cerebrum" EXACT [NCIT:C4577]
synonym: "neoplasm of cerebrum" EXACT EXCLUDE [DOID:368]
synonym: "telencephalon cancer" EXACT [MONDO:patterns/location]
synonym: "tumor of cerebrum" BROAD [DOID:368, NCIT:C4874]
xref: COHD:4091490 {source="MONDO:equivalentTo"}
xref: DOID:368 {source="MONDO:equivalentTo"}
xref: ICD9:191.8 {source="DOID:368"}
xref: NCIT:C4577 {source="MONDO:equivalentTo", source="kboom:pr0.75-conf4.32"}
xref: SCTID:429033009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002071 {source="DOID:368", source="NCIT:C4577"} ! supratentorial cancer
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C4577", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
property_value: closeMatch http://identifiers.org/snomedct/188300006
property_value: closeMatch http://identifiers.org/snomedct/188304002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153642
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346903
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1263885
property_value: exactMatch DOID:368
property_value: exactMatch http://identifiers.org/snomedct/429033009
property_value: exactMatch NCIT:C4577

[Term]
id: MONDO:0002732
name: lung benign neoplasm
def: "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." [NCIT:C4454]
synonym: "benign lung neoplasm" EXACT [NCIT:C4454]
synonym: "benign lung tumor" EXACT [NCIT:C4454]
synonym: "benign neoplasm of lung" EXACT [NCIT:C4454]
synonym: "benign neoplasm of the lung" EXACT [NCIT:C4454]
synonym: "benign tumor of lung" EXACT [NCIT:C4454]
synonym: "benign tumor of the lung" EXACT [NCIT:C4454]
synonym: "lung benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of the lung" EXACT [DOID:3683, NCIT:C3200]
xref: DOID:3683 {source="MONDO:equivalentTo"}
xref: NCIT:C4454 {source="MONDO:equivalentTo"}
is_a: MONDO:0000382 {source="DOID:3683", source="MONDO:Entailed", source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C4454"} ! thoracic benign neoplasm
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C4454"} ! lung neoplasm
property_value: broadMatch http://identifiers.org/snomedct/126713003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024121
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345963
property_value: exactMatch DOID:3683
property_value: exactMatch NCIT:C4454

[Term]
id: MONDO:0002734
name: anal mucinous adenocarcinoma
def: "An anal adenocarcinoma characterized by the presence of mucoid stroma formation." [NCIT:C5606]
synonym: "anal colloid adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anal colloidal adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anal mucinous adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anus mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "colloid adenocarcinoma of anus" EXACT [NCIT:C5606]
synonym: "colloid adenocarcinoma of the anus" EXACT [NCIT:C5606]
synonym: "colloidal adenocarcinoma of anus" EXACT [NCIT:C5606]
synonym: "colloidal adenocarcinoma of the anus" EXACT [NCIT:C5606]
synonym: "mucinous adenocarcinoma of anus" EXACT [DOID:3691, NCIT:C5606]
synonym: "mucinous adenocarcinoma of the anus" EXACT [NCIT:C5606]
xref: DOID:3691 {source="MONDO:equivalentTo"}
xref: NCIT:C5606 {source="MONDO:equivalentTo", source="DOID:3691"}
xref: UMLS:C1332272 {source="MONDO:equivalentTo", source="NCIT:C5606", source="DOID:3691"}
is_a: MONDO:0002652 {source="DOID:3691", source="MONDO:Redundant", source="MONDOLEX:0002734", source="NCIT:C5606/inferred"} ! anus adenocarcinoma
is_a: MONDO:0002748 ! rectum mucinous adenocarcinoma
property_value: exactMatch DOID:3691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332272
property_value: exactMatch NCIT:C5606

[Term]
id: MONDO:0002735
name: anal canal adenocarcinoma (disease)
def: "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding." [NCIT:C7471]
subset: ordo_disease {source="Orphanet:424016"}
synonym: "adenocarcinoma arising in anal mucosa" EXACT [NCIT:C7471]
synonym: "adenocarcinoma arising in the anal mucosa" EXACT [NCIT:C7471]
synonym: "adenocarcinoma of anal canal" EXACT [DOID:3692, NCIT:C7471]
synonym: "adenocarcinoma of the anal canal" EXACT [DOID:3692, MONDO:0018518, NCIT:C7471]
synonym: "anal canal adenocarcinoma" EXACT [MONDO:ambiguous, MONDO:patterns/location, NCIT:C7471]
xref: DOID:3692 {source="MONDO:equivalentTo"}
xref: HP:0030439 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C21.1 {source="Orphanet:424016", source="ORDO:424016/ntbt"}
xref: NCIT:C7471 {source="MONDO:equivalentTo", source="DOID:3692"}
xref: Orphanet:424016 {source="MONDO:equivalentTo"}
xref: SCTID:764845008 {source="MONDO:equivalentTo"}
xref: UMLS:C1332259 {source="MONDO:equivalentTo", source="DOID:3692", source="NCIT:C7471"}
is_a: MONDO:0002652 ! anus adenocarcinoma
is_a: MONDO:0007108 {source="DOID:3692", source="MONDO:Redundant", source="MONDOLEX:0002735", source="NCIT:C7471", source="Orphanet:424016"} ! anal canal carcinoma
property_value: exactMatch DOID:3692
property_value: exactMatch http://identifiers.org/snomedct/764845008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332259
property_value: exactMatch NCIT:C7471
property_value: exactMatch Orphanet:424016

[Term]
id: MONDO:0002736
name: ampulla of vater mucinous adenocarcinoma
def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." [NCIT:C27416]
synonym: "ampulla of Vater mucinous adenocarcinoma" EXACT [NCIT:C27416]
synonym: "hepatopancreatic ampulla mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3693 {source="MONDO:equivalentTo"}
xref: NCIT:C27416 {source="DOID:3693", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332248 {source="DOID:3693", source="MONDO:equivalentTo", source="NCIT:C27416"}
is_a: MONDO:0002670 {source="DOID:3693", source="MONDO:Redundant", source="NCIT:C27416"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0002739 ! extrahepatic bile duct mucinous adenocarcinoma
relationship: excluded_subClassOf MONDO:0002739 {source="DOID:3693"} ! extrahepatic bile duct mucinous adenocarcinoma
property_value: exactMatch DOID:3693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332248
property_value: exactMatch NCIT:C27416

[Term]
id: MONDO:0002737
name: acute sanguinous otitis media
def: "A acute transudative otitis media which involves bloody effusion." [DOID:3696, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
xref: COHD:378768 {source="MONDO:equivalentTo"}
xref: DOID:3696 {source="MONDO:equivalentTo"}
xref: ICD9:381.03 {source="DOID:3696", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:77478005 {source="DOID:3696", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0395865 {source="DOID:3696", source="MONDO:equivalentTo"}
is_a: MONDO:0002738 {source="DOID:3696", source="linkedlifedata"} ! acute transudative otitis media
property_value: exactMatch DOID:3696
property_value: exactMatch http://identifiers.org/snomedct/77478005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395865

[Term]
id: MONDO:0002738
name: acute transudative otitis media
def: "Acute form of non-suppurative otitis media." [MONDO:patterns/acute]
synonym: "acute non-suppurative otitis media" EXACT [DOID:3697]
synonym: "acute nonsuppurative otitis media" EXACT [DOID:3697, ICD9CM_2006:381.0]
synonym: "acute otitis media with effusion" EXACT [DOID:3697]
synonym: "acute secretory otitis media" EXACT [DOID:3697]
synonym: "acute transudative otitis media" EXACT [DOID:3697]
synonym: "non-suppurative otitis media, acute" EXACT [MONDO:patterns/acute]
xref: COHD:374948 {source="MONDO:equivalentTo"}
xref: DOID:3697 {source="MONDO:equivalentTo"}
xref: ICD9:381.0 {source="DOID:3697"}
xref: ICD9:381.00 {source="DOID:3697", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:359609001 {source="DOID:3697", source="MONDO:equivalentTo"}
xref: UMLS:C0271432 {source="DOID:3697", source="MONDO:equivalentTo"}
xref: UMLS:C2939185 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001212 {source="DOID:3697", source="MONDO:Redundant", source="MONDOLEX:0002738", source="linkedlifedata"} ! non-suppurative otitis media
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/11957006
property_value: closeMatch http://identifiers.org/snomedct/155218001
property_value: closeMatch http://identifiers.org/snomedct/194238001
property_value: closeMatch http://identifiers.org/snomedct/194239009
property_value: closeMatch http://identifiers.org/snomedct/194244002
property_value: closeMatch http://identifiers.org/snomedct/35183001
property_value: closeMatch http://identifiers.org/snomedct/36958006
property_value: exactMatch DOID:3697
property_value: exactMatch http://identifiers.org/snomedct/359609001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939185

[Term]
id: MONDO:0002739
name: extrahepatic bile duct mucinous adenocarcinoma
def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." [NCIT:C5846]
synonym: "bile duct colloid carcinoma" EXACT [NCIT:C5846]
synonym: "bile duct colloidal carcinoma" EXACT [NCIT:C5846]
synonym: "bile duct mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5846]
synonym: "colloid adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloid bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloid bile duct carcinoma" EXACT [NCIT:C5846]
synonym: "colloid carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloid carcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloid extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloidal bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloidal bile duct carcinoma" EXACT [NCIT:C5846]
synonym: "colloidal carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloidal carcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloidal extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "extrahepatic bile duct mucinous adenocarcinoma" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "mucinous bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "mucinous carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "mucinous carcinoma of the bile duct" EXACT [DOID:3698, NCIT:C5846]
synonym: "mucinous extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
xref: DOID:3698 {source="MONDO:equivalentTo"}
xref: NCIT:C5846 {source="DOID:3698", source="MONDO:equivalentTo"}
xref: UMLS:C0861856 {source="DOID:3698", source="MONDO:equivalentTo", source="NCIT:C5846"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="MONDOLEX:0002739", source="NCIT:C5846"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3698", source="MONDO:Redundant", source="MONDOLEX:0002739", source="NCIT:C5846"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861856
property_value: exactMatch NCIT:C5846

[Term]
id: MONDO:0002740
name: uterine ligament mucinous adenocarcinoma
def: "A rare mucinous adenocarcinoma that arises from the uterine ligament." [NCIT:C40137]
synonym: "uterine ligament mucinous adenocarcinoma" EXACT [NCIT:C40137]
xref: DOID:3699 {source="MONDO:equivalentTo"}
xref: NCIT:C40137 {source="MONDO:equivalentTo", source="DOID:3699", source="exact-label-match"}
xref: UMLS:C1519869 {source="MONDO:equivalentTo", source="DOID:3699", source="NCIT:C40137"}
is_a: MONDO:0002741 {source="DOID:3699", source="MONDO:Redundant", source="NCIT:C40137"} ! uterine ligament adenocarcinoma
is_a: MONDO:0002742 ! cervical mucinous adenocarcinoma
property_value: exactMatch DOID:3699
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519869
property_value: exactMatch NCIT:C40137

[Term]
id: MONDO:0002741
name: uterine ligament adenocarcinoma
def: "A rare adenocarcinoma that arises from the uterine ligament." [NCIT:C40135]
synonym: "uterine ligament adenocarcinoma" EXACT [NCIT:C40135]
xref: DOID:3700 {source="MONDO:equivalentTo"}
xref: NCIT:C40135 {source="DOID:3700", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519866 {source="DOID:3700", source="MONDO:equivalentTo", source="NCIT:C40135"}
is_a: MONDO:0003612 {source="DOID:3700", source="MONDO:Redundant", source="NCIT:C40135"} ! uterine ligament cancer
is_a: MONDO:0016275 ! adenocarcinoma of cervix uteri
property_value: exactMatch DOID:3700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519866
property_value: exactMatch NCIT:C40135

[Term]
id: MONDO:0002742
name: cervical mucinous adenocarcinoma
def: "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." [NCIT:C36095]
synonym: "cervical mucinous adenocarcinoma" EXACT [NCIT:C36095]
synonym: "cervical mucinous adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C36095]
synonym: "cervical mucinous adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C36095]
synonym: "uterine cervix mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3701 {source="MONDO:equivalentTo"}
xref: NCIT:C36095 {source="MONDO:equivalentTo", source="DOID:3701", source="exact-label-match"}
xref: UMLS:C1332919 {source="MONDO:equivalentTo", source="DOID:3701", source="NCIT:C36095"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="MONDOLEX:0002742", source="NCIT:C36095"} ! mucinous adenocarcinoma
is_a: MONDO:0005153 {source="DOID:3701", source="NCIT:C36095"} ! cervical adenocarcinoma
property_value: exactMatch DOID:3701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332919
property_value: exactMatch NCIT:C36095

[Term]
id: MONDO:0002743
name: obsolete prostate colloid adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006067

[Term]
id: MONDO:0002744
name: fallopian tube mucinous adenocarcinoma
def: "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." [NCIT:C40103]
synonym: "fallopian tube mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40103]
xref: DOID:3704 {source="MONDO:equivalentTo"}
xref: NCIT:C40103 {source="MONDO:equivalentTo", source="DOID:3704", source="exact-label-match"}
xref: UMLS:C1517119 {source="MONDO:equivalentTo", source="DOID:3704", source="NCIT:C40103"}
is_a: MONDO:0002745 {source="MONDO:Redundant", source="NCIT:C40103"} ! fallopian tube mucinous tumor
is_a: MONDO:0002746 {source="DOID:3704", source="MONDO:Redundant", source="NCIT:C40103"} ! fallopian tube adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3704", source="MONDO:Redundant", source="MONDOLEX:0002744", source="NCIT:C40103"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517119
property_value: exactMatch NCIT:C40103

[Term]
id: MONDO:0002745
name: fallopian tube mucinous tumor
def: "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C40109]
synonym: "fallopian tube mucinous neoplasm" EXACT [MONDO:patterns/location, NCIT:C40109]
synonym: "fallopian tube mucinous tumor" EXACT [NCIT:C40109]
xref: DOID:3705 {source="MONDO:equivalentTo"}
xref: NCIT:C40109 {source="MONDO:equivalentTo", source="DOID:3705", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1517120 {source="NCIT:C40109", source="MONDO:equivalentTo", source="DOID:3705"}
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40109"} ! fallopian tube neoplasm
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C40109"} ! mucinous neoplasm
property_value: exactMatch DOID:3705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517120
property_value: exactMatch NCIT:C40109

[Term]
id: MONDO:0002746
name: fallopian tube adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the fallopian tube" [MONDO:DesignPattern]
synonym: "adenocarcinoma of fallopian tube" EXACT [NCIT:C6265]
synonym: "adenocarcinoma of the fallopian tube" EXACT [DOID:3706, NCIT:C6265]
synonym: "fallopian tube adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6265]
xref: DOID:3706 {source="MONDO:equivalentTo"}
xref: NCIT:C6265 {source="MONDO:equivalentTo", source="DOID:3706", source="exact-label-match"}
xref: UMLS:C1333590 {source="NCIT:C6265", source="MONDO:equivalentTo", source="DOID:3706"}
is_a: MONDO:0004970 {source="DOID:3706", source="MONDO:Redundant", source="MONDOLEX:0002746", source="NCIT:C6265"} ! adenocarcinoma
is_a: MONDO:0006206 {source="DOID:3706", source="MONDO:Redundant", source="MONDOLEX:0002746", source="NCIT:C6265"} ! fallopian tube carcinoma
property_value: exactMatch DOID:3706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333590
property_value: exactMatch NCIT:C6265

[Term]
id: MONDO:0002747
name: endometrial mucinous adenocarcinoma
def: "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144]
synonym: "endometrial mucinous adenocarcinoma" EXACT [MONDO:0006194, NCIT:C40144]
synonym: "endometrium mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "uterine corpus mucinous adenocarcinoma" RELATED [DOID:3707, NCIT:C40144]
synonym: "uterine mucinous carcinoma" RELATED [ONCOTREE:UMC]
xref: DOID:3707 {source="MONDO:equivalentTo"}
xref: EFO:1000236 {source="MONDO:equivalentTo"}
xref: NCIT:C40144 {source="MONDO:equivalentTo", source="EFO:1000236", source="MONDO:kboom-pr-1.00/0.87/13.24", source="DOID:3707"}
xref: ONCOTREE:UMC {source="MONDO:equivalentTo"}
xref: UMLS:C1519859 {source="MONDO:equivalentTo", source="DOID:3707"}
is_a: MONDO:0004957 {source="DOID:3707", source="MONDO:Redundant", source="MONDOLEX:0002747", source="NCIT:C40144"} ! mucinous adenocarcinoma
is_a: MONDO:0005461 {source="DOID:3707", source="EFO:1000236", source="MONDO:Redundant", source="NCIT:C40144/inferred"} ! endometrium adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854923
property_value: exactMatch DOID:3707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519859
property_value: exactMatch NCIT:C40144

[Term]
id: MONDO:0002748
name: rectum mucinous adenocarcinoma
def: "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." [NCIT:C7973]
synonym: "colloid adenocarcinoma of rectum" EXACT [NCIT:C7973]
synonym: "colloid adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "colloidal adenocarcinoma of rectum" EXACT [DOID:3709, NCIT:C7973]
synonym: "colloidal adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "mucinous adenocarcinoma of rectum" EXACT [NCIT:C7973]
synonym: "mucinous adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "rectal colloid adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectal colloidal adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectal mucinous adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectum mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3709 {source="MONDO:equivalentTo"}
xref: NCIT:C7973 {source="DOID:3709", source="MONDO:equivalentTo"}
xref: UMLS:C0279652 {source="DOID:3709", source="MONDO:equivalentTo", source="NCIT:C7973"}
is_a: MONDO:0002169 {source="DOID:3709", source="MONDO:Redundant", source="MONDOLEX:0002748", source="NCIT:C7973"} ! rectum adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3709", source="MONDO:Redundant", source="MONDOLEX:0002748", source="NCIT:C7973/inferred"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279652
property_value: exactMatch NCIT:C7973

[Term]
id: MONDO:0002749
name: extracranial neuroblastoma
def: "A neuroblastoma arising from an anatomic site other than the brain." [NCIT:C5437]
synonym: "extracranial neuroblastoma" EXACT [NCIT:C5437]
xref: DOID:371 {source="MONDO:equivalentTo"}
xref: NCIT:C5437 {source="MONDO:equivalentTo", source="DOID:371", source="exact-label-match"}
xref: UMLS:C1333499 {source="MONDO:equivalentTo", source="DOID:371", source="NCIT:C5437"}
is_a: MONDO:0005072 {source="DOID:371", source="NCIT:C5437"} ! neuroblastoma
property_value: exactMatch DOID:371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333499
property_value: exactMatch NCIT:C5437

[Term]
id: MONDO:0002750
name: bladder colloid adenocarcinoma
synonym: "bladder mucinous adenocarcinoma" EXACT [NCIT:C39837]
xref: DOID:3710 {source="MONDO:equivalentTo"}
xref: NCIT:C39837 {source="MONDO:equivalentTo", source="DOID:3710", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1511193 {source="MONDO:equivalentTo", source="DOID:3710", source="NCIT:C39837"}
is_a: MONDO:0002751 {source="DOID:3710", source="NCIT:C39837"} ! bladder adenocarcinoma
property_value: exactMatch DOID:3710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511193
property_value: exactMatch NCIT:C39837

[Term]
id: MONDO:0002751
name: bladder adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the urinary bladder" [MONDO:DesignPattern]
synonym: "adenocarcinoma of bladder" EXACT [NCIT:C4032]
synonym: "adenocarcinoma of the bladder" EXACT [NCIT:C4032]
synonym: "adenocarcinoma of the urinary bladder" EXACT [DOID:3711, NCIT:C4032]
synonym: "adenocarcinoma of urinary bladder" EXACT [NCIT:C4032]
synonym: "blad" RELATED [ONCOTREE:BLAD]
synonym: "bladder adenocarcinoma" EXACT [MONDO:0006110, NCIT:C4032]
synonym: "bladder adenocarcinoma, not otherwise specified" RELATED EXCLUDE [DOID:3711, NCIT:C39836]
synonym: "urinary bladder adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4032]
xref: DOID:3711 {source="MONDO:equivalentTo"}
xref: EFO:1000125 {source="MONDO:equivalentTo"}
xref: NCIT:C4032 {source="DOID:3711", source="MONDO:equivalentTo", source="EFO:1000125", source="exact-label-match"}
xref: ONCOTREE:BLAD {source="MONDO:equivalentTo"}
xref: SCTID:255110003 {source="DOID:3711", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.83"}
xref: UMLS:C0279682 {source="NCIT:C4032", source="DOID:3711", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="MONDOLEX:0002751", source="NCIT:C4032", source="linkedlifedata/inferred"} ! adenocarcinoma
is_a: MONDO:0004986 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="MONDOLEX:0002751", source="NCIT:C4032", source="linkedlifedata"} ! urinary bladder carcinoma
property_value: closeMatch NCIT:C39836
property_value: exactMatch DOID:3711
property_value: exactMatch http://identifiers.org/snomedct/255110003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279682
property_value: exactMatch NCIT:C4032

[Term]
id: MONDO:0002752
name: ovarian adenocarcinoma
def: "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." [NCIT:C7700]
subset: ordo_disease {source="Orphanet:213504"}
synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700]
synonym: "adenocarcinoma of the ovary" EXACT [DOID:3713, NCIT:C7700]
synonym: "ovarian adenoacanthoma" EXACT EXCLUDE [DOID:3713]
synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, Orphanet:213504]
synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3713 {source="MONDO:equivalentTo"}
xref: EFO:0006460 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:213504/ntbt", source="Orphanet:213504"}
xref: MedDRA:10051938 {source="Orphanet:213504", source="ORDO:213504/e"}
xref: NCIT:C7700 {source="MONDO:equivalentTo", source="DOID:3713", source="EFO:0006460"}
xref: Orphanet:213504 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="DOID:3713", source="EFO:0006460", source="MONDO:Redundant", source="MONDOLEX:0002752", source="NCIT:C7700"} ! adenocarcinoma
is_a: MONDO:0005140 {source="DOID:3713", source="EFO:0006460", source="MONDO:Entailed", source="MONDOLEX:0002752", source="NCIT:C7700"} ! ovarian carcinoma
property_value: exactMatch DOID:3713
property_value: exactMatch http://identifiers.org/meddra/10051938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948216
property_value: exactMatch NCIT:C7700
property_value: exactMatch Orphanet:213504

[Term]
id: MONDO:0002753
name: obsolete mucinous stomach adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006309

[Term]
id: MONDO:0002754
name: extramedullary plasmacytoma
def: "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." [NCIT:P378]
synonym: "EP" RELATED [ONCOTREE:EP]
synonym: "extramedullary plasmacytoma" EXACT [DOID:3720, NCIT:C4002]
synonym: "extramedullary plasmacytoma (clinical)" EXACT [DOID:3720]
synonym: "extraosseous plasmacytoma" EXACT [DOID:3720, NCIT:C4002]
synonym: "plasmacytoma, extramedullary" EXACT [DOID:3720]
synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [DOID:3720]
xref: DOID:3720 {source="MONDO:equivalentTo"}
xref: ICD10:C90.2 {source="DOID:3720", source="MONDO:equivalentTo"}
xref: ICD10:C90.20 {source="DOID:3720"}
xref: ICD9:203.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9734/3 {source="NCIT:C4002"}
xref: NCIT:C4002 {source="DOID:3720", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: ONCOTREE:EP {source="MONDO:equivalentTo"}
xref: SCTID:188718006 {source="MONDO:kboom-pr-1.00/0.79/7.98", source="DOID:3720", source="MONDO:equivalentTo"}
xref: UMLS:C0278619 {source="DOID:3720", source="MONDO:equivalentTo", source="NCIT:C4002"}
is_a: MONDO:0005615 {source="DOID:3720", source="NCIT:C4002", source="linkedlifedata"} ! plasmacytoma
property_value: closeMatch http://identifiers.org/snomedct/10639003
property_value: closeMatch http://identifiers.org/snomedct/109987008
property_value: closeMatch http://identifiers.org/snomedct/128921005
property_value: exactMatch DOID:3720
property_value: exactMatch http://identifiers.org/snomedct/188718006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278619
property_value: exactMatch NCIT:C4002

[Term]
id: MONDO:0002755
name: solitary osseous plasmacytoma
def: "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion." [NCIT:C7812]
synonym: "isolated osseous plasmacytoma" EXACT [DOID:3722, NCIT:C7812]
synonym: "isolated plasmacytoma of bone" EXACT [NCIT:C7812]
synonym: "solitary plasmacytoma of bone" EXACT [DOID:3722]
synonym: "SPB" RELATED [ONCOTREE:SPB]
xref: DOID:3722 {source="MONDO:equivalentTo"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7812 {source="DOID:3722", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SPB {source="MONDO:equivalentTo"}
xref: SCTID:426336007 {source="MONDO:kboom-pr-1.00/0.79/7.51", source="DOID:3722", source="MONDO:equivalentTo"}
xref: UMLS:C0272256 {source="DOID:3722", source="MONDO:equivalentTo", source="NCIT:C7812"}
is_a: MONDO:0005615 {source="DOID:3722", source="NCIT:C7812/inferred", source="linkedlifedata"} ! plasmacytoma
property_value: closeMatch http://identifiers.org/snomedct/42215000
property_value: exactMatch DOID:3722
property_value: exactMatch http://identifiers.org/snomedct/426336007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272256
property_value: exactMatch NCIT:C7812

[Term]
id: MONDO:0002756
name: solitary plasmacytoma of chest wall
def: "A solitary plasmacytoma that arises from the chest wall." [NCIT:C6711]
synonym: "chest wall plasmacytoma" EXACT [MONDO:patterns/location]
synonym: "chest wall solitary plasmacytoma" EXACT [NCIT:C6711]
synonym: "plasmacytoma of chest wall" EXACT [MONDO:design_pattern]
synonym: "solitary plasmacytoma of chest wall" EXACT [NCIT:C6711]
synonym: "solitary plasmacytoma of the chest wall" EXACT [DOID:3723, NCIT:C6711]
xref: DOID:3723 {source="MONDO:equivalentTo"}
xref: NCIT:C6711 {source="MONDO:equivalentTo", source="DOID:3723", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332936 {source="MONDO:equivalentTo", source="NCIT:C6711", source="DOID:3723"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0003985 ! chest wall lymphoma
is_a: MONDO:0005615 {source="DOID:3723", source="MONDO:Redundant", source="NCIT:C6711/inferred"} ! plasmacytoma
property_value: exactMatch DOID:3723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332936
property_value: exactMatch NCIT:C6711

[Term]
id: MONDO:0002757
name: acute allergic sanguinous otitis media
def: "A acute sanguinous otitis media caused by an allergen." [DOID:3728, PMID:15301306]
xref: DOID:3728 {source="MONDO:equivalentTo"}
xref: ICD9:381.06 {source="MONDO:equivalentTo", source="i2s", source="DOID:3728"}
xref: SCTID:17866004 {source="MONDO:equivalentTo", source="DOID:3728", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155420 {source="MONDO:equivalentTo", source="DOID:3728"}
is_a: MONDO:0002737 {source="DOID:3728", source="linkedlifedata"} ! acute sanguinous otitis media
property_value: closeMatch http://identifiers.org/snomedct/194243008
property_value: exactMatch DOID:3728
property_value: exactMatch http://identifiers.org/snomedct/17866004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155420

[Term]
id: MONDO:0002758
name: vulva verrucous carcinoma
def: "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border." [NCIT:C6383]
synonym: "mammalian vulva verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of the vulva" EXACT [NCIT:C6383]
synonym: "verrucous carcinoma of vulva" EXACT [DOID:3740, NCIT:C6383]
synonym: "vulvar verrucous carcinoma" EXACT [NCIT:C6383]
xref: DOID:3740 {source="MONDO:equivalentTo"}
xref: NCIT:C6383 {source="DOID:3740", source="MONDO:equivalentTo"}
xref: UMLS:C1336983 {source="NCIT:C6383", source="DOID:3740", source="MONDO:equivalentTo"}
is_a: MONDO:0006006 {source="DOID:3740", source="MONDO:Redundant", source="NCIT:C6383"} ! verrucous carcinoma
is_a: MONDO:0024609 {source="DOID:3740", source="MONDO:Redundant", source="NCIT:C6383"} ! vulvar squamous cell carcinoma
property_value: exactMatch DOID:3740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336983
property_value: exactMatch NCIT:C6383

[Term]
id: MONDO:0002759
name: bladder verrucous carcinoma
def: "A verrucous carcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder verrucous carcinoma" EXACT [NCIT:C39832]
synonym: "bladder verrucous squamous cell carcinoma" EXACT [NCIT:C39832]
synonym: "urinary bladder verrucous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3741 {source="MONDO:equivalentTo"}
xref: NCIT:C39832 {source="DOID:3741", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1511208 {source="DOID:3741", source="MONDO:equivalentTo", source="NCIT:C39832"}
is_a: MONDO:0002760 {source="DOID:3741", source="MONDO:Redundant", source="NCIT:C39832"} ! bladder squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C39832"} ! verrucous carcinoma
property_value: exactMatch DOID:3741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511208
property_value: exactMatch NCIT:C39832

[Term]
id: MONDO:0002760
name: bladder squamous cell carcinoma
def: "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." [NCIT:C4031]
synonym: "bladder epidermoid carcinoma" EXACT [NCIT:C4031]
synonym: "bladder squamous cell cancer" EXACT [NCIT:C4031]
synonym: "bladder squamous cell carcinoma" EXACT [MONDO:0006114, NCIT:C4031]
synonym: "BLSC" RELATED [ONCOTREE:BLSC]
synonym: "epidermoid carcinoma of bladder" EXACT [NCIT:C4031]
synonym: "epidermoid carcinoma of the bladder" EXACT [NCIT:C4031]
synonym: "epidermoid carcinoma of the urinary bladder" EXACT [DOID:3742, NCIT:C4031]
synonym: "epidermoid carcinoma of urinary bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of the bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of the urinary bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of urinary bladder" EXACT [NCIT:C4031]
synonym: "urinary bladder epidermoid carcinoma" EXACT [NCIT:C4031]
synonym: "urinary bladder squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4031]
xref: DOID:3742 {source="MONDO:equivalentTo"}
xref: EFO:1000130 {source="MONDO:equivalentTo"}
xref: NCIT:C4031 {source="EFO:1000130", source="DOID:3742", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:BLSC {source="MONDO:equivalentTo"}
xref: SCTID:255111004 {source="DOID:3742", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279681 {source="NCIT:C4031", source="DOID:3742", source="MONDO:equivalentTo"}
is_a: MONDO:0004986 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="MONDOLEX:0002760", source="NCIT:C4031"} ! urinary bladder carcinoma
is_a: MONDO:0005096 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="MONDOLEX:0002760", source="NCIT:C4031", source="linkedlifedata"} ! squamous cell carcinoma
property_value: exactMatch DOID:3742
property_value: exactMatch http://identifiers.org/snomedct/255111004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279681
property_value: exactMatch NCIT:C4031

[Term]
id: MONDO:0002761
name: cervical verrucous carcinoma
def: "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." [NCIT:C40190]
synonym: "cervical verrucous carcinoma" EXACT [NCIT:C40190]
synonym: "uterine cervix verrucous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3743 {source="MONDO:equivalentTo"}
xref: NCIT:C40190 {source="MONDO:equivalentTo", source="DOID:3743", source="exact-label-match"}
xref: UMLS:C1516435 {source="NCIT:C40190", source="MONDO:equivalentTo", source="DOID:3743"}
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C40190", source="OWLReasoner:2017"} ! verrucous carcinoma
is_a: MONDO:0006143 {source="DOID:3743", source="MONDO:Redundant", source="NCIT:C40190"} ! cervical squamous cell carcinoma
is_a: MONDO:0016285 ! papillary carcinoma of the cervix uteri
property_value: exactMatch DOID:3743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516435
property_value: exactMatch NCIT:C40190

[Term]
id: MONDO:0002762
name: esophagus verrucous carcinoma
def: "A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)" [NCIT:C27420]
synonym: "esophageal verrucous cancer" EXACT [NCIT:C27420]
synonym: "esophageal verrucous carcinoma" EXACT [NCIT:C27420]
synonym: "esophagus verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of esophagus" EXACT [DOID:3747, NCIT:C27420]
synonym: "verrucous carcinoma of the esophagus" EXACT [DOID:3747, NCIT:C27420]
xref: DOID:3747 {source="MONDO:equivalentTo"}
xref: NCIT:C27420 {source="MONDO:equivalentTo", source="DOID:3747"}
xref: UMLS:C1333470 {source="NCIT:C27420", source="MONDO:equivalentTo", source="DOID:3747"}
is_a: MONDO:0005580 {source="DOID:3747", source="MONDO:Redundant", source="NCIT:C27420"} ! esophageal squamous cell carcinoma
is_a: MONDO:0006006 {source="DOID:3747", source="MONDO:Redundant", source="NCIT:C27420"} ! verrucous carcinoma
property_value: exactMatch DOID:3747
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333470
property_value: exactMatch NCIT:C27420

[Term]
id: MONDO:0002763
name: urethral verrucous carcinoma
def: "A verrucous carcinoma that involves the urethra." [MONDO:patterns/location]
synonym: "urethra verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral verrucous carcinoma" EXACT [NCIT:C39874]
xref: DOID:3749 {source="MONDO:equivalentTo"}
xref: NCIT:C39874 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3749"}
xref: UMLS:C1519827 {source="NCIT:C39874", source="MONDO:equivalentTo", source="DOID:3749"}
is_a: MONDO:0002764 {source="DOID:3749", source="MONDO:Redundant", source="NCIT:C39874"} ! urethra squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C39874", source="OWLReasoner:2017"} ! verrucous carcinoma
property_value: exactMatch DOID:3749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519827
property_value: exactMatch NCIT:C39874

[Term]
id: MONDO:0002764
name: urethra squamous cell carcinoma
def: "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." [NCIT:P378]
synonym: "epidermoid carcinoma of the urethra" EXACT [NCIT:C6165]
synonym: "epidermoid carcinoma of urethra" EXACT [NCIT:C6165]
synonym: "squamous cell carcinoma of the urethra" EXACT [NCIT:C6165]
synonym: "squamous cell carcinoma of urethra" EXACT [NCIT:C6165]
synonym: "urethra epidermoid carcinoma" EXACT [NCIT:C6165]
synonym: "urethra squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6165]
synonym: "urethral epidermoid carcinoma" EXACT [DOID:3750, NCIT:C6165]
synonym: "urethral squamous cell cancer" EXACT [NCIT:C6165]
synonym: "urethral squamous cell carcinoma" EXACT [NCIT:C6165]
synonym: "USCC" RELATED [ONCOTREE:USCC]
xref: DOID:3750 {source="MONDO:equivalentTo"}
xref: NCIT:C6165 {source="DOID:3750", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:USCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336890 {source="DOID:3750", source="NCIT:C6165", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="DOID:3750", source="MONDO:Redundant", source="MONDOLEX:0002764", source="NCIT:C6165"} ! squamous cell carcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="MONDOLEX:0002764", source="NCIT:C6165"} ! carcinoma of urethra
property_value: exactMatch DOID:3750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336890
property_value: exactMatch NCIT:C6165

[Term]
id: MONDO:0002765
name: plantar verrucous skin carcinoma
def: "A verrucous carcinoma that involves the plantar part of pes." [MONDO:patterns/location]
synonym: "plantar part of pes verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "plantar verrucous carcinoma of skin" EXACT [NCIT:C6811]
synonym: "plantar verrucous carcinoma of the skin" EXACT [NCIT:C6811]
synonym: "plantar verrucous skin carcinoma" EXACT [NCIT:C6811]
xref: DOID:3751 {source="MONDO:equivalentTo"}
xref: NCIT:C6811 {source="DOID:3751", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335424 {source="DOID:3751", source="MONDO:equivalentTo", source="NCIT:C6811"}
is_a: MONDO:0002529 {source="DOID:3751", source="NCIT:C6811"} ! skin squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C6811"} ! verrucous carcinoma
is_a: MONDO:0044989 ! foot disease
property_value: exactMatch DOID:3751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335424
property_value: exactMatch NCIT:C6811

[Term]
id: MONDO:0002766
name: larynx verrucous carcinoma
def: "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." [NCIT:C8188]
synonym: "laryngeal throat verrucous cancer" EXACT [NCIT:C8188]
synonym: "laryngeal verrucous carcinoma" EXACT [NCIT:C8188]
synonym: "larynx verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8188]
synonym: "verrucous carcinoma of larynx" EXACT [NCIT:C8188]
synonym: "verrucous carcinoma of the larynx" EXACT [DOID:3752, NCIT:C8188]
xref: DOID:3752 {source="MONDO:equivalentTo"}
xref: NCIT:C8188 {source="DOID:3752", source="MONDO:equivalentTo"}
xref: SCTID:707427000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C0280328 {source="NCIT:C8188", source="DOID:3752", source="MONDO:equivalentTo"}
is_a: MONDO:0005595 {source="DOID:3752", source="MONDO:Redundant", source="NCIT:C8188", source="linkedlifedata", source="linkedlifedata/inferred"} ! laryngeal squamous cell carcinoma
is_a: MONDO:0006006 {source="DOID:3752", source="MONDO:Redundant", source="NCIT:C8188", source="linkedlifedata"} ! verrucous carcinoma
property_value: exactMatch DOID:3752
property_value: exactMatch http://identifiers.org/snomedct/707427000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280328
property_value: exactMatch NCIT:C8188

[Term]
id: MONDO:0002767
name: obsolete protein C deficiency
def: "A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." [NCIT:C99025]
is_obsolete: true
replaced_by: MONDO:0019145

[Term]
id: MONDO:0002768
name: true hermaphroditism
def: "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." [NCIT:C85207]
synonym: "hermaphroditism" EXACT [NCIT:C85207]
synonym: "ovotestis" EXACT [NCIT:C85207]
synonym: "true hermaphroditism" EXACT [NCIT:C85207]
xref: DOID:3763 {source="MONDO:equivalentTo"}
xref: NCIT:C85207 {source="MONDO:kboom-pr-0.90/0.77/0.33", source="MONDO:equivalentTo"}
xref: PATO:0001340
xref: SCTID:237821001 {source="DOID:3763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0019269 {source="DOID:3763", source="MONDO:equivalentTo"}
is_a: MONDO:0002145 {source="DOID:3763"} ! sex differentiation disease
property_value: closeMatch http://identifiers.org/snomedct/52572004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266361
property_value: exactMatch DOID:3763
property_value: exactMatch http://identifiers.org/snomedct/237821001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019269
property_value: exactMatch NCIT:C45909
property_value: exactMatch NCIT:C85207

[Term]
id: MONDO:0002769
name: leukorrhea
def: "Whitish or yellowish mucosal vaginal discharge." [NCIT:P378]
synonym: "discharge - leukorrhea" EXACT [DOID:3766]
synonym: "leukorrhea of vagina" EXACT [DOID:3766, MTHICD9_2006:623.5]
xref: COHD:195873 {source="MONDO:equivalentTo"}
xref: DOID:3766 {source="MONDO:equivalentTo"}
xref: ICD10:N89.8 {source="DOID:3766"}
xref: MESH:D007973 {source="DOID:3766", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0002770 {source="DOID:3766", source="MESH:D007973"} ! vaginal discharge
property_value: closeMatch http://identifiers.org/snomedct/11057009
property_value: closeMatch http://identifiers.org/snomedct/156017008
property_value: closeMatch http://identifiers.org/snomedct/237101004
property_value: closeMatch http://identifiers.org/snomedct/266664009
property_value: closeMatch http://identifiers.org/snomedct/278070007
property_value: closeMatch http://identifiers.org/snomedct/289552002
property_value: closeMatch http://identifiers.org/snomedct/70856007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023533
property_value: exactMatch DOID:3766
property_value: exactMatch http://identifiers.org/mesh/D007973
property_value: exactMatch NCIT:C34775

[Term]
id: MONDO:0002770
name: vaginal discharge
def: "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." [NCIT:C50795]
synonym: "Discharge, vaginal" EXACT [NCIT:C50795]
xref: DOID:3767 {source="MONDO:equivalentTo"}
xref: MESH:D019522 {source="MONDO:equivalentTo", source="DOID:3767"}
xref: NCIT:C50795 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:3767"}
is_a: MONDO:0001433 {source="DOID:3767", source="MESH:D019522"} ! vaginal disease
property_value: closeMatch http://identifiers.org/snomedct/139439007
property_value: closeMatch http://identifiers.org/snomedct/162159008
property_value: closeMatch http://identifiers.org/snomedct/198369007
property_value: closeMatch http://identifiers.org/snomedct/271939006
property_value: closeMatch http://identifiers.org/snomedct/70856007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0227791
property_value: exactMatch DOID:3767
property_value: exactMatch http://identifiers.org/mesh/D019522
property_value: exactMatch NCIT:C50795

[Term]
id: MONDO:0002771
name: pulmonary fibrosis
def: "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." [NCIT:P378]
synonym: "fibrosis of lung" EXACT [DOID:3770]
synonym: "pulmonary interstitial fibrosis" EXACT [NCIT:C26869]
xref: DOID:3770 {source="MONDO:equivalentTo"}
xref: MESH:D011658 {source="DOID:3770", source="MONDO:equivalentTo"}
xref: NCIT:C26869 {source="DOID:3770", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:51615001 {source="DOID:3770", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034069 {source="DOID:3770", source="MONDO:equivalentTo", source="NCIT:C26869"}
is_a: MONDO:0015925 {source="DOID:3770"} ! interstitial lung disease
property_value: closeMatch http://identifiers.org/snomedct/155613001
property_value: closeMatch http://identifiers.org/snomedct/196121006
property_value: exactMatch DOID:3770
property_value: exactMatch http://identifiers.org/mesh/D011658
property_value: exactMatch http://identifiers.org/snomedct/51615001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034069
property_value: exactMatch NCIT:C26869

[Term]
id: MONDO:0002772
name: intraventricular meningioma
def: "A meningioma that affects the ventricles of the brain." [NCIT:P378]
synonym: "brain ventricle meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of brain ventricle" EXACT []
xref: DOID:3772 {source="MONDO:equivalentTo"}
xref: NCIT:C5273 {source="DOID:3772", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1334271 {source="NCIT:C5273", source="DOID:3772", source="MONDO:equivalentTo"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0002682 {source="DOID:3772", source="NCIT:C5273"} ! cerebral ventricle cancer
is_a: MONDO:0021322 ! malignant tumor of meninges
relationship: excluded_subClassOf MONDO:0003772 {source="DOID:3772"} ! cerebral meningioma
property_value: exactMatch DOID:3772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334271
property_value: exactMatch NCIT:C5273

[Term]
id: MONDO:0002774
name: obsolete chordoid glioma
is_obsolete: true
replaced_by: MONDO:0016706

[Term]
id: MONDO:0002775
name: anovulation
def: "The absence of ovulation." [NCIT:P378]
xref: DOID:3781 {source="MONDO:equivalentTo"}
xref: MESH:D000858 {source="DOID:3781", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0003128 {source="DOID:3781", source="MONDO:equivalentTo"}
is_a: MONDO:0005558 {source="DOID:3781", source="MESH:D000858"} ! ovarian disease
property_value: closeMatch http://identifiers.org/snomedct/34571000
property_value: exactMatch DOID:3781
property_value: exactMatch http://identifiers.org/mesh/D000858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003128
property_value: exactMatch NCIT:C34388

[Term]
id: MONDO:0002776
name: external ear disease
def: "A disease involving the external ear." [MONDO:DesignPattern]
synonym: "disease of external ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of external ear" EXACT []
synonym: "disorder of external ear" EXACT [MONDO:patterns/location_top]
synonym: "disorder of external ear" RELATED [MONDO:patterns/location_top]
synonym: "external ear disease" EXACT [MONDO:patterns/location]
synonym: "external ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "external ear disorder" EXACT [NCIT:C26972]
synonym: "preauricular cyst" RELATED DUBIOUS [DOID:379]
synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus and fistula" EXACT [DOID:379]
synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus or fistula" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [DOID:379]
xref: COHD:133859 {source="MONDO:equivalentTo"}
xref: DOID:379 {source="MONDO:equivalentTo"}
xref: ICD10:H60-H62 {source="DOID:379"}
xref: ICD10:H60.H62 {source="MONDO:equivalentTo"}
xref: ICD10:H61.9 {source="DOID:379"}
xref: ICD9:380 {source="DOID:379"}
xref: ICD9:380.9 {source="DOID:379"}
xref: ICD9:744.47 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26972 {source="DOID:379", source="MONDO:equivalentTo"}
xref: SCTID:49130001 {source="DOID:379", source="MONDO:equivalentTo"}
xref: UMLS:C0155388 {source="DOID:379", source="MONDO:equivalentTo"}
is_a: MONDO:0002409 {source="DOID:379", source="linkedlifedata/inferred"} ! auditory system disease
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C26972", source="linkedlifedata"} ! disease of ear
property_value: closeMatch http://identifiers.org/snomedct/155209003
property_value: closeMatch http://identifiers.org/snomedct/155216002
property_value: closeMatch http://identifiers.org/snomedct/194236002
property_value: closeMatch http://identifiers.org/snomedct/194664001
property_value: closeMatch http://identifiers.org/snomedct/267751009
property_value: exactMatch DOID:379
property_value: exactMatch http://identifiers.org/snomedct/49130001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155388
property_value: exactMatch NCIT:C26972

[Term]
id: MONDO:0002777
name: obsolete pleural empyema
is_obsolete: true
replaced_by: MONDO:0018667

[Term]
id: MONDO:0002778
name: epidural spinal canal meningioma
def: "A meningioma that arises in the epidural spinal canal space." [NCIT:P378]
synonym: "meningioma of epidural spinal canal" EXACT [NCIT:C5310]
synonym: "meningioma of the epidural spinal canal" EXACT [NCIT:C5310]
xref: DOID:3809 {source="MONDO:equivalentTo"}
xref: NCIT:C5310 {source="DOID:3809", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333417 {source="DOID:3809", source="NCIT:C5310", source="MONDO:equivalentTo"}
is_a: MONDO:0001279 {source="DOID:3809", source="NCIT:C5310"} ! intraspinal meningioma
property_value: exactMatch DOID:3809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333417
property_value: exactMatch NCIT:C5310

[Term]
id: MONDO:0002779
name: central nervous system chondroma
def: "An extraskeletal chondroma usually arising from the dura." [NCIT:C7001]
synonym: "central nervous system chondroma" EXACT [MONDO:patterns/location, NCIT:C7001]
synonym: "central nervous system osteochondroma" EXACT [NCIT:C7001]
synonym: "chondroma of central nervous system" EXACT [NCIT:C7001]
synonym: "chondroma of CNS" EXACT [NCIT:C7001]
synonym: "chondroma of the central nervous system" EXACT [NCIT:C7001]
synonym: "chondroma of the CNS" EXACT [DOID:3813, NCIT:C7001]
synonym: "CNS chondroma" EXACT [NCIT:C7001]
synonym: "CNS osteochondroma" EXACT [NCIT:C7001]
synonym: "osteochondroma of central nervous system" EXACT [NCIT:C7001]
synonym: "osteochondroma of CNS" EXACT [NCIT:C7001]
synonym: "osteochondroma of the central nervous system" EXACT [NCIT:C7001]
synonym: "osteochondroma of the CNS" EXACT [NCIT:C7001]
xref: DOID:3813 {source="MONDO:equivalentTo"}
xref: NCIT:C7001 {source="MONDO:equivalentTo", source="DOID:3813", source="exact-label-match"}
xref: UMLS:C1333019 {source="NCIT:C7001", source="MONDO:equivalentTo", source="DOID:3813"}
is_a: MONDO:0000628 ! central nervous system organ benign neoplasm
is_a: MONDO:0006423 {source="NCIT:C7001"} ! soft tissue chondroma
property_value: exactMatch DOID:3813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333019
property_value: exactMatch NCIT:C7001

[Term]
id: MONDO:0002781
name: glossopharyngeal nerve paralysis
def: "Paralysis of the glossopharyngeal nerve." [NCIT:P378]
synonym: "cranial nerve palsy of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
synonym: "glossopharyngeal nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
xref: DOID:3816 {source="MONDO:equivalentTo"}
xref: NCIT:C27335 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3816"}
xref: UMLS:C0919940 {source="MONDO:equivalentTo", source="NCIT:C27335", source="DOID:3816"}
is_a: MONDO:0002639 {source="DOID:3816", source="MONDO:Entailed", source="MONDO:Redundant"} ! glossopharyngeal nerve disease
is_a: MONDO:0002782 {source="DOID:3816", source="MONDO:Redundant", source="NCIT:C27335"} ! cranial nerve palsy
property_value: exactMatch DOID:3816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0919940
property_value: exactMatch NCIT:C27335

[Term]
id: MONDO:0002782
name: cranial nerve palsy
def: "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." [NCIT:C26941]
synonym: "cranial nerve palsies" RELATED [NCIT:C26941]
synonym: "cranial nerve palsy" EXACT [DOID:3817, NCIT:C26941]
synonym: "cranial nerve paralysis" EXACT [DOID:3817, NCIT:C26941]
xref: DOID:3817 {source="MONDO:equivalentTo"}
xref: NCIT:C26941 {source="MONDO:equivalentTo", source="NCIT:C26941", source="DOID:3817"}
xref: UMLS:C0151311 {source="MONDO:equivalentTo", source="NCIT:C26941", source="DOID:3817"}
is_a: MONDO:0003569 {source="DOID:3817", source="NCIT:C26941"} ! cranial nerve neuropathy
property_value: exactMatch DOID:3817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151311
property_value: exactMatch NCIT:C26941

[Term]
id: MONDO:0002783
name: Shwartzman phenomenon
def: "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." [MESH:D012790]
subset: gard_rare {source="GARD:0007636"}
synonym: "Shwartzman reaction" EXACT [DOID:3825]
synonym: "Shwartzman reaction (function)" EXACT [DOID:3825]
xref: DOID:3825 {source="MONDO:equivalentTo"}
xref: GARD:0007636 {source="MONDO:equivalentTo"}
xref: MESH:D012790 {source="MONDO:equivalentTo", source="DOID:3825", source="MONDO:ontobio"}
xref: UMLS:C0037018 {source="MONDO:equivalentTo", source="DOID:3825"}
is_a: MONDO:0003159 {source="DOID:3825", source="MESH:D012790"} ! vascular hemostatic disease
is_a: MONDO:0018882 {source="DOID:3825", source="MESH:D012790"} ! vasculitis
property_value: closeMatch http://identifiers.org/snomedct/24453002
property_value: exactMatch DOID:3825
property_value: exactMatch http://identifiers.org/mesh/D012790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037018
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon xsd:anyURI {source="GARD:0007636"}

[Term]
id: MONDO:0002784
name: obsolete craniopharyngioma
is_obsolete: true
replaced_by: MONDO:0006175

[Term]
id: MONDO:0002785
name: skull base neoplasm
def: "A benign or malignant neoplasm that affects the skull base." [NCIT:C4676]
synonym: "basicranium neoplasm" EXACT []
synonym: "basicranium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "basicranium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of basicranium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of skull base" EXACT [NCIT:C4676]
synonym: "neoplasm of the skull base" EXACT [NCIT:C4676]
synonym: "skull base cancer" RELATED [DOID:3842]
synonym: "skull base neoplasm" EXACT [NCIT:C4676]
synonym: "skull base tumor" EXACT [NCIT:C4676]
synonym: "tumor of basicranium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of skull base" EXACT [NCIT:C4676]
synonym: "tumor of the skull base" EXACT [NCIT:C4676]
synonym: "tumors of skull base" EXACT [DOID:3842, NCIT:C4676]
xref: DOID:3842 {source="MONDO:equivalentTo"}
xref: MESH:D019292 {source="MONDO:equivalentTo", source="DOID:3842", source="MONDO:ontobio"}
xref: NCIT:C4676 {source="MONDO:equivalentTo", source="DOID:3842", source="exact-label-match"}
xref: UMLS:C0376527 {source="MONDO:equivalentTo", source="DOID:3842", source="NCIT:C4676"}
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:3842
property_value: exactMatch http://identifiers.org/mesh/D019292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376527
property_value: exactMatch NCIT:C4676

[Term]
id: MONDO:0002786
name: diencephalic cancer
def: "A cancer involving a diencephalon." [MONDO:patterns/cancer]
synonym: "cancer of diencephalon" EXACT [MONDO:patterns/cancer]
synonym: "diencephalic neoplasm" RELATED [DOID:3843]
synonym: "diencephalon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant diencephalic neoplasm" EXACT [DOID:3843, NCIT:C5126]
synonym: "malignant diencephalic neoplasms" EXACT [NCIT:C5126]
synonym: "malignant diencephalic tumor" EXACT [DOID:3843, NCIT:C5126]
synonym: "malignant diencephalon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of diencephalon" EXACT [MONDO:patterns/cancer]
synonym: "tumor of diencephalon" EXACT [DOID:3843, NCIT:C5125]
xref: DOID:3843 {source="MONDO:equivalentTo"}
xref: NCIT:C5126 {source="DOID:3843", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C1334576 {source="MEDGEN:kboom-pr98-c99", source="DOID:3843", source="MONDO:equivalentTo", source="NCIT:C5126"}
is_a: MONDO:0002071 {source="DOID:3843", source="NCIT:C5126"} ! supratentorial cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333286
property_value: closeMatch NCIT:C5125
property_value: exactMatch DOID:3843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334576
property_value: exactMatch NCIT:C5126

[Term]
id: MONDO:0002787
name: adamantinous craniopharyngioma
def: "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" [NCIT:P378]
synonym: "adamantinomatous craniopharyngioma" EXACT [NCIT:C4726]
synonym: "adamantinous craniopharyngioma (morphologic abnormality)" EXACT [DOID:3846]
synonym: "adamantinous neoplasm of Rathke's pouch" EXACT [NCIT:C4726]
synonym: "adamantinous Rathke's pouch neoplasm" EXACT [NCIT:C4726]
synonym: "adamantinous Rathke's pouch tumor" EXACT [DOID:3846, NCIT:C4726]
synonym: "adamantinous tumor of Rathke's pouch" EXACT [NCIT:C4726]
synonym: "craniopharyngioma, adamantinomatous" EXACT [DOID:3846]
xref: DOID:3846 {source="MONDO:equivalentTo"}
xref: EFO:1000069 {source="MONDO:equivalentTo"}
xref: ICDO:9351/1 {source="NCIT:C4726"}
xref: NCIT:C4726 {source="MONDO:kboom-pr-1.00/0.91/29.36", source="MONDO:equivalentTo", source="DOID:3846"}
xref: UMLS:C0431129 {source="MONDO:equivalentTo", source="DOID:3846", source="NCIT:C4726"}
is_a: MONDO:0018907 {source="DOID:3846", source="NCIT:C4726"} ! craniopharyngioma
property_value: closeMatch http://identifiers.org/snomedct/128781004
property_value: closeMatch http://identifiers.org/snomedct/134216001
property_value: exactMatch DOID:3846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431129
property_value: exactMatch NCIT:C4726

[Term]
id: MONDO:0002788
name: papillary craniopharyngioma
def: "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" [NCIT:P378]
synonym: "craniopharyngioma, papillary" EXACT [DOID:3847]
synonym: "craniopharyngioma, papillary (morphologic abnormality)" EXACT [DOID:3847]
synonym: "papillary craniopharyngioma (morphologic abnormality)" EXACT [DOID:3847]
synonym: "papillary neoplasm of Rathke's pouch" EXACT [NCIT:C4725]
synonym: "papillary Rathke pouch neoplasm" EXACT [NCIT:C4725]
synonym: "papillary Rathke's pouch neoplasm" EXACT [NCIT:C4725]
synonym: "papillary Rathke's pouch tumor" EXACT [DOID:3847, NCIT:C4725]
synonym: "papillary tumor of Rathke's pouch" EXACT [NCIT:C4725]
xref: DOID:3847 {source="MONDO:equivalentTo"}
xref: EFO:1000447 {source="MONDO:equivalentTo"}
xref: ICDO:9352/1 {source="NCIT:C4725"}
xref: NCIT:C4725 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3847"}
xref: UMLS:C0431128 {source="MONDO:equivalentTo", source="DOID:3847", source="NCIT:C4725"}
is_a: MONDO:0018907 {source="DOID:3847", source="NCIT:C4725"} ! craniopharyngioma
property_value: closeMatch http://identifiers.org/snomedct/128782006
property_value: closeMatch http://identifiers.org/snomedct/134215002
property_value: exactMatch DOID:3847
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431128
property_value: exactMatch NCIT:C4725

[Term]
id: MONDO:0002789
name: hemangiopericytic tumor
def: "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." [NCIT:P378]
comment: Editor note: TODO check relationship to spindle cell tumor
synonym: "hemangiopericytic neoplasm" EXACT [DOID:3850, MONDO:0006240]
xref: DOID:3850 {source="MONDO:equivalentTo"}
xref: EFO:1000289 {source="MONDO:equivalentTo"}
xref: NCIT:C7076 {source="DOID:3850", source="MONDO:kboom-pr-1.00/0.83/11.74", source="EFO:1000289", source="MONDO:equivalentTo"}
xref: UMLS:C0476144 {source="NCIT:C7076", source="DOID:3850", source="MONDO:equivalentTo"}
is_a: MONDO:0002604 {source="DOID:3850"} ! pericytic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189866002
property_value: closeMatch http://identifiers.org/snomedct/189867006
property_value: exactMatch DOID:3850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476144
property_value: exactMatch NCIT:C7076

[Term]
id: MONDO:0002790
name: seminal vesicle tumor
def: "A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma." [NCIT:P378]
synonym: "neoplasm of seminal vesicle" EXACT [MONDO:patterns/neoplasm]
synonym: "seminal vesicle neoplasm" EXACT [DOID:3855, NCIT:C39908]
synonym: "seminal vesicle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "seminal vesicle tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of seminal vesicle" EXACT [MONDO:patterns/neoplasm]
xref: DOID:3855 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C39908 {source="MONDO:equivalentTo", source="DOID:3855", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:236740006 {source="MONDO:equivalentTo", source="DOID:3855", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0341767 {source="NCIT:C39908", source="MONDO:equivalentTo", source="DOID:3855"}
is_a: MONDO:0021348 ! neoplasm of testis
property_value: exactMatch DOID:3855
property_value: exactMatch http://identifiers.org/snomedct/236740006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341767
property_value: exactMatch NCIT:C39908

[Term]
id: MONDO:0002791
name: large cell medulloblastoma
def: "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma." [NCIT:C6904]
synonym: "large cell medulloblastoma" EXACT [DOID:3857, NCIT:C6904]
synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [DOID:3857]
xref: DOID:3857 {source="MONDO:equivalentTo"}
xref: EFO:0008508 {source="MONDO:equivalentTo"}
xref: ICDO:9474/3 {source="NCIT:C6904"}
xref: NCIT:C6904 {source="MONDO:equivalentTo", source="DOID:3857", source="exact-label-match"}
xref: UMLS:C1266180 {source="MONDO:equivalentTo", source="DOID:3857", source="NCIT:C6904"}
is_a: MONDO:0007959 {source="DOID:3857", source="EFO:0008508", source="NCIT:C6904"} ! medulloblastoma
property_value: closeMatch http://identifiers.org/snomedct/128790006
property_value: exactMatch DOID:3857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266180
property_value: exactMatch NCIT:C6904

[Term]
id: MONDO:0002792
name: cerebellar vermis medulloblastoma
def: "A medulloblastoma arising from the vermis of the cerebellum." [NCIT:P378]
synonym: "cerebellar vermis medulloblastoma" EXACT [MONDO:patterns/location]
synonym: "medulloblastoma of cerebellar vermis" EXACT [NCIT:C5401]
synonym: "medulloblastoma of the cerebellar vermis" EXACT [NCIT:C5401]
synonym: "vermis medulloblastoma" EXACT [DOID:3860, NCIT:C5401]
xref: DOID:3860 {source="MONDO:equivalentTo"}
xref: NCIT:C5401 {source="DOID:3860", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1332903 {source="DOID:3860", source="MONDO:equivalentTo", source="NCIT:C5401"}
is_a: MONDO:0007959 {source="DOID:3860", source="MONDO:Redundant", source="NCIT:C5401"} ! medulloblastoma
property_value: exactMatch DOID:3860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332903
property_value: exactMatch NCIT:C5401

[Term]
id: MONDO:0002793
name: obsolete medullomyoblastoma
is_obsolete: true
replaced_by: MONDO:0006300

[Term]
id: MONDO:0002794
name: adult medulloblastoma
def: "A medulloblastoma arising from the brain, occurring in adults." [NCIT:P378]
synonym: "adult brain medulloblastoma" EXACT [DOID:3864]
synonym: "medulloblastoma" EXACT [NCIT:C4011]
synonym: "medulloblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3864 {source="MONDO:equivalentTo"}
xref: NCIT:C4011 {source="MONDO:equivalentTo", source="DOID:3864"}
xref: UMLS:C0278876 {source="NCIT:C4011", source="MONDO:equivalentTo", source="DOID:3864"}
xref: UMLS:C1332188 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:3864"}
is_a: MONDO:0003260 ! adult cerebellar neoplasm
is_a: MONDO:0007959 {source="DOID:3864", source="MONDO:Redundant", source="NCIT:C4011"} ! medulloblastoma
property_value: closeMatch NCIT:C9373
property_value: exactMatch DOID:3864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332188
property_value: exactMatch NCIT:C4011

[Term]
id: MONDO:0002795
name: adult central nervous system primitive neuroectodermal neoplasm
def: "A central nervous system embryonal tumor, not otherwise specified that occurs in adults." [NCIT:C5411]
synonym: "adult central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5411]
synonym: "adult central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5411]
synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5411]
synonym: "adult central primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult central primitive neuroectodermal tumour" EXACT [NCIT:C5411]
synonym: "adult CNS PNET" EXACT [DOID:3865, NCIT:C5411]
synonym: "adult CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult CNS primitive neuroectodermal tumor" EXACT [NCIT:C5411]
synonym: "central nervous system primitive neuroectodermal neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3865 {source="MONDO:equivalentTo"}
xref: NCIT:C5411 {source="DOID:3865", source="MONDO:equivalentTo"}
xref: UMLS:C1332196 {source="DOID:3865", source="MONDO:equivalentTo", source="NCIT:C5411"}
is_a: MONDO:0000640 {source="DOID:3865", source="MONDO:Redundant", source="MONDOLEX:0002795", source="NCIT:C5411"} ! central nervous system primitive neuroectodermal neoplasm
property_value: exactMatch DOID:3865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332196
property_value: exactMatch NCIT:C5411

[Term]
id: MONDO:0002796
name: melanotic medulloblastoma
def: "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course." [NCIT:P378]
synonym: "medulloblastoma with melanotic differentiation" EXACT [NCIT:C9497]
synonym: "medulloblastoma, melanotic" EXACT [DOID:3868]
synonym: "medulloblastoma, melanotic (morphologic abnormality)" EXACT [DOID:3868]
synonym: "melanocytic medulloblastoma" EXACT [NCIT:C9497]
synonym: "melanotic medulloblastoma" EXACT [DOID:3868, NCIT:C9497]
synonym: "MMBL" RELATED [ONCOTREE:MMBL]
xref: DOID:3868 {source="MONDO:equivalentTo"}
xref: NCIT:C9497 {source="MONDO:equivalentTo", source="DOID:3868", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:MMBL {source="MONDO:equivalentTo"}
xref: UMLS:C1275668 {source="NCIT:C9497", source="MONDO:equivalentTo", source="DOID:3868"}
is_a: MONDO:0007959 {source="DOID:3868", source="NCIT:C9497"} ! medulloblastoma
property_value: closeMatch http://identifiers.org/snomedct/397380008
property_value: closeMatch http://identifiers.org/snomedct/83217000
property_value: exactMatch DOID:3868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275668
property_value: exactMatch NCIT:C9497

[Term]
id: MONDO:0002797
name: childhood medulloblastoma
def: "A medulloblastoma occurring in children." [NCIT:C3997]
subset: gard_rare {source="GARD:0009350"}
synonym: "childhood medulloblastoma" EXACT [NCIT:C3997]
synonym: "medulloblastoma" EXACT [NCIT:C3997]
synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "medulloblastoma, childhood" RELATED [GARD:0009350]
synonym: "pediatric medulloblastoma" EXACT [DOID:3869, MONDO:patterns/childhood, NCIT:C3997]
synonym: "pediatric medulloblastoma" RELATED [MONDO:patterns/childhood]
xref: DOID:3869 {source="MONDO:equivalentTo"}
xref: GARD:0009350 {source="MONDO:equivalentTo"}
xref: NCIT:C3997 {source="MONDO:equivalentTo", source="DOID:3869"}
xref: UMLS:C0278510 {source="MONDO:equivalentTo", source="DOID:3869", source="NCIT:C3997"}
is_a: MONDO:0003263 {source="NCIT:C3997"} ! childhood cerebellar neoplasm
is_a: MONDO:0007959 {source="DOID:3869", source="MONDO:Redundant", source="NCIT:C3997"} ! medulloblastoma
property_value: exactMatch DOID:3869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278510
property_value: exactMatch NCIT:C3997
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood xsd:anyURI {source="GARD:0009350"}

[Term]
id: MONDO:0002798
name: childhood central nervous system primitive neuroectodermal neoplasm
def: "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." [NCIT:C5961]
synonym: "Central nervous system embryonal tumor, NOS" EXACT [NCIT:C5961]
synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961]
synonym: "central nervous system primitive neuroectodermal neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5961]
synonym: "childhood central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961]
synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961]
synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "childhood central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood central primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "childhood CNS PNET" EXACT [NCIT:C5961]
synonym: "childhood CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "pediatric central nervous system primitive neuroectodermal neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5961]
synonym: "pediatric central nervous system primitive neuroectodermal neoplasm" RELATED [MONDO:patterns/childhood]
synonym: "pediatric central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "pediatric central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "pediatric central primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "pediatric CNS PNET" EXACT [DOID:3870, NCIT:C5961]
synonym: "pediatric CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "pediatric CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961]
xref: DOID:3870 {source="MONDO:equivalentTo"}
xref: NCIT:C5961 {source="DOID:3870", source="MONDO:equivalentTo"}
xref: UMLS:C1332957 {source="DOID:3870", source="MONDO:equivalentTo"}
is_a: MONDO:0000640 {source="DOID:3870", source="MONDO:Redundant", source="MONDOLEX:0002798", source="NCIT:C5961"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0006517 ! childhood malignant neoplasm
property_value: exactMatch DOID:3870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332957
property_value: exactMatch NCIT:C5961

[Term]
id: MONDO:0002799
name: nodular medulloblastoma
def: "A medulloblastoma characterized by nodularity and neuronal differentiation." [NCIT:P378]
xref: DOID:3873 {source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="DOID:3873"} ! medulloblastoma
property_value: exactMatch DOID:3873

[Term]
id: MONDO:0002800
name: thrombophlebitis
def: "Inflammation of the veins associated with the presence of a thrombus." [NCIT:C3410]
synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [DOID:3875, ICD9CM_2006:451.0]
synonym: "superficial thrombophlebitis of leg" EXACT [DOID:3875]
synonym: "thrombophlebitis of a superficial leg vein" EXACT [DOID:3875]
synonym: "thrombophlebitis of superficial veins of lower extremity" EXACT [DOID:3875]
xref: COHD:320741 {source="MONDO:equivalentTo"}
xref: DOID:3875 {source="MONDO:equivalentTo"}
xref: ICD10:I80.0 {source="MONDO:equivalentTo", source="DOID:3875"}
xref: ICD9:451.0 {source="MONDO:equivalentTo", source="DOID:3875", source="i2s"}
xref: ICD9:451.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013924 {source="MONDO:equivalentTo", source="DOID:3875", source="MONDO:ontobio"}
xref: NCIT:C3410 {source="MONDO:equivalentTo", source="DOID:3875", source="exact-label-match"}
xref: SCTID:40283005 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo", source="DOID:3875"}
xref: UMLS:C0040046 {source="MONDO:equivalentTo", source="DOID:3875", source="NCIT:C3410"}
is_a: MONDO:0004625 {source="DOID:3875", source="MESH:D013924", source="linkedlifedata", source="linkedlifedata/inferred"} ! phlebitis
property_value: closeMatch http://identifiers.org/snomedct/195401008
property_value: closeMatch http://identifiers.org/snomedct/195433004
property_value: closeMatch http://identifiers.org/snomedct/266266001
property_value: closeMatch http://identifiers.org/snomedct/64156001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265057
property_value: exactMatch DOID:3875
property_value: exactMatch http://identifiers.org/mesh/D013924
property_value: exactMatch http://identifiers.org/snomedct/40283005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040046
property_value: exactMatch NCIT:C3410

[Term]
id: MONDO:0002801
name: colonic pseudo-obstruction
def: "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [MESH:D003112]
subset: gard_rare
synonym: "ACPO" RELATED [GARD:0007248]
synonym: "acute colonic ileus" RELATED [GARD:0007248]
synonym: "acute colonic pseudo-obstruction" RELATED [GARD:0007248]
synonym: "Ogilvie's syndrome" NARROW [GARD:0007248]
synonym: "primary chronic pseudo-obstruction of colon" EXACT [DOID:3876]
xref: DOID:3876 {source="MONDO:equivalentTo"}
xref: EFO:1000871 {source="MONDO:equivalentTo"}
xref: GARD:0007248 {source="MONDO:equivalentTo"}
xref: ICD9:564.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003112 {source="DOID:3876", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:35065006 {source="DOID:3876", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0009377 {source="DOID:3876", source="MONDO:equivalentTo"}
is_a: MONDO:0002802 {source="DOID:3876", source="MESH:D003112"} ! functional colonic disease
is_a: MONDO:0002803 {source="DOID:3876", source="EFO:1000871", source="MESH:D003112", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal pseudo-obstruction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527395
property_value: exactMatch DOID:3876
property_value: exactMatch http://identifiers.org/mesh/D003112
property_value: exactMatch http://identifiers.org/snomedct/35065006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009377

[Term]
id: MONDO:0002802
name: functional colonic disease
def: "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category." [MESH:D003109]
xref: DOID:3877 {source="MONDO:equivalentTo"}
xref: MESH:D003109 {source="MONDO:equivalentTo", source="DOID:3877", source="MONDO:ontobio"}
xref: UMLS:C0009374 {source="MONDO:equivalentTo", source="DOID:3877"}
is_a: MONDO:0003409 {source="DOID:3877", source="MESH:D003109"} ! colonic disease
property_value: exactMatch DOID:3877
property_value: exactMatch http://identifiers.org/mesh/D003109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009374

[Term]
id: MONDO:0002803
name: intestinal pseudo-obstruction
def: "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." [https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction]
subset: gard_rare {source="GARD:0006789"}
synonym: "hollow visceral myopathy" RELATED [GARD:0006789]
synonym: "intestinal pseudo-obstruction" EXACT [DOID:3878, NCIT:C34733]
synonym: "intestinal pseudoobstruction" RELATED [GARD:0006789]
synonym: "intestine pseudoobstruction" EXACT [CSP2005:1248-5896, DOID:3878]
synonym: "pseudo-obstruction of intestine" EXACT [DOID:3878]
xref: DOID:3878 {source="MONDO:equivalentTo"}
xref: EFO:1000988 {source="MONDO:equivalentTo"}
xref: GARD:0006789 {source="MONDO:equivalentTo"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007418 {source="MONDO:equivalentTo", source="DOID:3878"}
xref: NCIT:C34733 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:3878"}
xref: SCTID:235825006 {source="MONDO:equivalentTo", source="DOID:3878", source="MONDO:kboom-pr-0.92/0.83/0.13"}
is_a: MONDO:0004567 {source="DOID:3878", source="MESH:D007418"} ! ileus
property_value: exactMatch DOID:3878
property_value: exactMatch http://identifiers.org/mesh/D007418
property_value: exactMatch http://identifiers.org/snomedct/235825006
property_value: exactMatch NCIT:C34733
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction xsd:anyURI {source="GARD:0006789"}

[Term]
id: MONDO:0002804
name: apocrine adenoma
def: "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." [NCIT:P378]
synonym: "tubular apocrine adenoma" EXACT [DOID:3895, NCIT:C27527]
xref: DOID:3895 {source="MONDO:equivalentTo"}
xref: ICDO:8401/0 {source="NCIT:C4168"}
xref: NCIT:C4168 {source="DOID:3895", source="MONDO:equivalentTo"}
xref: SCTID:307596009 {source="DOID:3895", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334345 {source="DOID:3895", source="MONDO:equivalentTo", source="NCIT:C4168"}
is_a: MONDO:0003686 {source="DOID:3895", source="NCIT:C4168/inferred"} ! apocrine sweat gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/36318001
property_value: closeMatch NCIT:C27527
property_value: exactMatch DOID:3895
property_value: exactMatch http://identifiers.org/snomedct/307596009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334345
property_value: exactMatch NCIT:C4168

[Term]
id: MONDO:0002805
name: hidradenoma
def: "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." [NCIT:C7563]
synonym: "acrospiroma" EXACT [NCIT:C7563]
synonym: "eccrine acrospiroma" EXACT [NCIT:C7563]
synonym: "hidradenoma" EXACT [NCIT:C7563]
synonym: "hidradenoma of skin" EXACT [DOID:3896]
synonym: "sweat gland adenoma" EXACT [DOID:3896, NCIT:C7560]
synonym: "Syringoadenoma" EXACT [DOID:3896]
xref: DOID:3896 {source="MONDO:equivalentTo"}
xref: NCIT:C7563 {source="DOID:3896", source="MONDO:equivalentTo"}
is_a: MONDO:0021110 {source="MONDOLEX:0002805", source="NCIT:C7563"} ! sweat gland adenoma
property_value: closeMatch http://identifiers.org/mesh/D006607
property_value: closeMatch http://identifiers.org/snomedct/189051001
property_value: closeMatch http://identifiers.org/snomedct/189664001
property_value: closeMatch http://identifiers.org/snomedct/254719003
property_value: closeMatch http://identifiers.org/snomedct/255182002
property_value: closeMatch http://identifiers.org/snomedct/307574003
property_value: closeMatch http://identifiers.org/snomedct/81393009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019522
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206671
property_value: exactMatch DOID:3896
property_value: exactMatch NCIT:C7563

[Term]
id: MONDO:0002806
name: bronchogenic carcinoma
def: "A lung carcinoma arising from the bronchial epithelium." [NCIT:C35875]
synonym: "BC - bronchogenic carcinoma" EXACT [DOID:3904]
synonym: "bronchial carcinoma" EXACT [NCIT:C35875]
synonym: "bronchiogenic carcinoma" EXACT [NCIT:C35875]
synonym: "bronchogenic carcinoma" EXACT [NCIT:C35875]
synonym: "bronchogenic lung cancer" EXACT [NCIT:C35875]
synonym: "bronchogenic lung carcinoma" EXACT [NCIT:C35875]
synonym: "bronchus carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bronchus" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, bronchial, malignant" EXACT [NCIT:C35875]
xref: CSP:2017-6052 {source="DOID:3904"}
xref: DOID:3904 {source="MONDO:equivalentTo"}
xref: EFO:1001942 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002283 {source="MONDO:equivalentTo", source="DOID:3904"}
xref: NCIT:C35875 {source="MONDO:equivalentTo", source="DOID:3904"}
xref: SCTID:254622008 {source="MONDO:equivalentTo", source="DOID:3904", source="MONDO:kboom-pr-0.92/0.80/0.76"}
xref: UMLS:C0007121 {source="MONDO:equivalentTo", source="NCIT:C35875", source="DOID:3904"}
is_a: MONDO:0001672 {source="DOID:3904", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bronchus cancer
is_a: MONDO:0005138 {source="EFO:1001942", source="MONDOLEX:0002806", source="NCIT:C35875"} ! lung carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154485001
property_value: closeMatch http://identifiers.org/snomedct/269561006
property_value: exactMatch DOID:3904
property_value: exactMatch http://identifiers.org/mesh/D002283
property_value: exactMatch http://identifiers.org/snomedct/254622008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007121
property_value: exactMatch NCIT:C35875

[Term]
id: MONDO:0002807
name: bronchial neoplasm (disease)
def: "Tumors or cancer of the bronchi." [MESH:D001984]
synonym: "bronchial neoplasm" EXACT [MONDO:ambiguous]
synonym: "bronchus neoplasm" EXACT [CSP2005:2017-5516, DOID:3906]
synonym: "bronchus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bronchus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of bronchus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bronchus" EXACT [MONDO:patterns/neoplasm]
xref: DOID:3906 {source="MONDO:equivalentTo"}
xref: EFO:1000849 {source="MONDO:equivalentTo"}
xref: HP:0030077 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D001984 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3906"}
xref: SCTID:126705004 {source="MONDO:equivalentTo", source="DOID:3906", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0006264 {source="MONDO:equivalentTo", source="DOID:3906"}
is_a: MONDO:0001358 {source="DOID:3906", source="MESH:D001984", source="MONDO:Redundant", source="linkedlifedata"} ! bronchial disease
is_a: MONDO:0020641 ! respiratory tract neoplasm
is_a: MONDO:0021350 ! neoplasm of thorax
property_value: exactMatch DOID:3906
property_value: exactMatch http://identifiers.org/mesh/D001984
property_value: exactMatch http://identifiers.org/snomedct/126705004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006264

[Term]
id: MONDO:0002808
name: pancreatic serous cystadenoma
def: "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." [NCIT:C5712]
synonym: "pancreas serous cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic microcystic adenoma" EXACT [NCIT:C5712]
synonym: "pancreatic serous cystadenoma" EXACT [NCIT:C5712]
synonym: "PSC" RELATED [ONCOTREE:PSC]
synonym: "serous cystadenoma of pancreas" EXACT [NCIT:C5712]
synonym: "serous cystadenoma of the pancreas" EXACT [NCIT:C5712]
xref: DOID:3917 {source="MONDO:equivalentTo"}
xref: NCIT:C5712 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3917"}
xref: ONCOTREE:PSC {source="MONDO:equivalentTo"}
xref: UMLS:C1335316 {source="MONDO:equivalentTo", source="NCIT:C5712", source="DOID:3917"}
is_a: MONDO:0002809 {source="DOID:3917", source="MONDOLEX:0002808", source="NCIT:C5712"} ! pancreatic cystadenoma
is_a: MONDO:0005177 {source="MONDO:Redundant", source="MONDOLEX:0002808", source="NCIT:C5712"} ! serous cystadenoma
property_value: exactMatch DOID:3917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335316
property_value: exactMatch NCIT:C5712

[Term]
id: MONDO:0002809
name: pancreatic cystadenoma
def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." [NCIT:C4374]
synonym: "cystadenoma of pancreas" EXACT [NCIT:C4374]
synonym: "cystadenoma of the pancreas" EXACT [NCIT:C4374]
synonym: "exocrine pancreas cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic cystadenoma" EXACT [NCIT:C4374]
xref: DOID:3918 {source="MONDO:equivalentTo"}
xref: NCIT:C4374 {source="DesignPattern", source="DOID:3918", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:235967003 {source="DesignPattern", source="DOID:3918", source="MONDO:equivalentTo"}
xref: UMLS:C0341486 {source="DOID:3918", source="NCIT:C4374", source="MONDO:equivalentTo"}
is_a: MONDO:0002369 {source="MONDO:Redundant", source="MONDOLEX:0002809", source="NCIT:C4374"} ! cystadenoma
is_a: MONDO:0021076 {source="MONDO:Redundant", source="NCIT:C4374/inferred"} ! pancreatic exocrine neoplasm
property_value: exactMatch DOID:3918
property_value: exactMatch http://identifiers.org/snomedct/235967003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341486
property_value: exactMatch NCIT:C4374

[Term]
id: MONDO:0002810
name: pancreatic serous cystic neoplasm
def: "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." [NCIT:C41248]
synonym: "pancreatic serous cystic neoplasm" EXACT [NCIT:C41248]
synonym: "pancreatic serous neoplasm" EXACT [NCIT:C41248]
xref: DOID:3919 {source="MONDO:equivalentTo"}
xref: NCIT:C41248 {source="DOID:3919", source="MONDO:equivalentTo"}
xref: UMLS:C1518875 {source="DOID:3919", source="MONDO:equivalentTo", source="NCIT:C41248"}
is_a: MONDO:0021076 {source="NCIT:C41248"} ! pancreatic exocrine neoplasm
property_value: exactMatch DOID:3919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518875
property_value: exactMatch NCIT:C41248

[Term]
id: MONDO:0002811
name: main bronchus cancer
def: "A malignant neoplasm involving the main bronchus." [MONDO:DesignPattern]
synonym: "Ca main bronchus" EXACT [DOID:3924]
synonym: "cancer of main bronchus" EXACT [MONDO:patterns/cancer]
synonym: "main bronchus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant main bronchus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of main bronchus" EXACT [DOID:3924, ICD9CM_2006:162.2, MONDO:patterns/cancer]
xref: COHD:4157333 {source="MONDO:equivalentTo"}
xref: DOID:3924 {source="MONDO:equivalentTo"}
xref: ICD10:C34.0 {source="DOID:3924"}
xref: ICD9:162.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:3924"}
xref: SCTID:372065009 {source="MONDO:equivalentTo", source="DOID:3924", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153490 {source="MONDO:equivalentTo", source="DOID:3924"}
is_a: MONDO:0001672 {source="DOID:3924", source="MONDO:Redundant", source="MONDOLEX:0002811", source="linkedlifedata"} ! bronchus cancer
relationship: excluded_subClassOf MONDO:0008903 {source="DOID:3924"} ! lung cancer
property_value: closeMatch http://identifiers.org/snomedct/154487009
property_value: closeMatch http://identifiers.org/snomedct/187856002
property_value: closeMatch http://identifiers.org/snomedct/187859009
property_value: closeMatch http://identifiers.org/snomedct/269563009
property_value: exactMatch DOID:3924
property_value: exactMatch http://identifiers.org/snomedct/372065009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153490

[Term]
id: MONDO:0002812
name: infectious otitis interna
def: "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." [NCIT:C27339]
synonym: "infectious labyrinthitis" EXACT [MONDO:cjm]
synonym: "infectious otitis interna" EXACT [NCIT:C27339]
synonym: "inner Ear infection" EXACT [NCIT:C27339]
synonym: "inner ear infection" EXACT [DOID:3930]
synonym: "internal Ear infection" EXACT [NCIT:C27339]
xref: NCIT:C27339 {source="MONDO:equivalentTo"}
xref: UMLS:C1168225 {source="MONDO:equivalentTo", source="NCIT:C27339"}
is_a: MONDO:0002008 ! labyrinthitis
is_a: MONDO:0021666 {source="MONDO:Entailed", source="NCIT:C27339"} ! ear infection
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0002008 ! labyrinthitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168225
property_value: exactMatch NCIT:C27339

[Term]
id: MONDO:0002813
name: lipomatous cancer
def: "A malignant mesenchymal neoplasm arising from adipocytes." [NCIT:C4501]
synonym: "adipose tissue cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of adipose tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4501]
synonym: "malignant adipose tissue tumor" EXACT [NCIT:C4501]
synonym: "malignant lipomatous neoplasm" EXACT [NCIT:C4501]
synonym: "malignant lipomatous tumor" EXACT [NCIT:C4501]
synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer, NCIT:C4501]
synonym: "malignant neoplasm of the adipose tissue" EXACT [NCIT:C4501]
synonym: "malignant tumor of adipose tissue" EXACT [DOID:3939, NCIT:C4501]
synonym: "malignant tumor of the adipose tissue" EXACT [NCIT:C4501]
xref: DOID:3939 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4501 {source="MONDO:equivalentTo", source="DOID:3939", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254828009 {source="MONDO:equivalentTo", source="DOID:3939", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346117 {source="MONDO:equivalentTo", source="NCIT:C4501", source="DOID:3939"}
is_a: MONDO:0002176 {source="DOID:3939", source="MONDO:Entailed", source="MONDO:Redundant"} ! connective tissue cancer
is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4501"} ! tumor of adipose tissue
property_value: exactMatch DOID:3939
property_value: exactMatch http://identifiers.org/snomedct/254828009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346117
property_value: exactMatch NCIT:C4501

[Term]
id: MONDO:0002814
name: adrenal carcinoma
def: "A carcinoma involving a adrenal gland." [MONDO:patterns/carcinoma]
synonym: "adrenal gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of adrenal gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the adrenal gland" EXACT [DOID:3950, NCIT:C9324]
xref: DOID:3950 {source="MONDO:equivalentTo"}
is_a: MONDO:0001502 ! retroperitoneum carcinoma
is_a: MONDO:0002817 {source="DOID:3950", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal gland cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1370740
property_value: exactMatch DOID:3950

[Term]
id: MONDO:0002815
name: acute myocarditis
def: "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." [NCIT:P378]
synonym: "myocarditis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:312653 {source="MONDO:equivalentTo"}
xref: DOID:3951 {source="MONDO:equivalentTo"}
xref: ICD10:I40 {source="MONDO:subClassOf", source="DOID:3951"}
xref: ICD10:I40.9 {source="DOID:3951"}
xref: ICD9:422 {source="DOID:3951"}
xref: ICD9:422.90 {source="DOID:3951", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:422.99 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35206 {source="DOID:3951", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:46701001 {source="DOID:3951", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155686 {source="DOID:3951", source="MONDO:equivalentTo", source="NCIT:C35206"}
is_a: MONDO:0004496 {source="DOID:3951", source="MONDO:Redundant", source="MONDOLEX:0002815", source="NCIT:C35206", source="linkedlifedata"} ! myocarditis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155336004
property_value: closeMatch http://identifiers.org/snomedct/194953001
property_value: closeMatch http://identifiers.org/snomedct/194961006
property_value: closeMatch http://identifiers.org/snomedct/195569005
property_value: exactMatch DOID:3951
property_value: exactMatch http://identifiers.org/snomedct/46701001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155686
property_value: exactMatch NCIT:C35206

[Term]
id: MONDO:0002816
name: adrenal cortex disease
def: "A disease involving the adrenal cortex." [MONDO:DesignPattern]
synonym: "adrenal cortex disease" EXACT [MONDO:patterns/location]
synonym: "adrenal cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of adrenal cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adrenal cortex" EXACT []
synonym: "disorder of adrenal cortex" EXACT [MONDO:patterns/location_top]
synonym: "disorder of adrenal cortex" RELATED [MONDO:patterns/location_top]
xref: DOID:3952 {source="MONDO:equivalentTo"}
xref: MESH:D000303 {source="MONDO:equivalentTo", source="DOID:3952", source="MONDO:ontobio"}
xref: SCTID:129636003 {source="MONDO:equivalentTo", source="DOID:3952"}
xref: UMLS:C0001614 {source="MONDO:equivalentTo", source="DOID:3952"}
is_a: MONDO:0005495 {source="DOID:3952", source="MESH:D000303", source="MONDO:Redundant", source="linkedlifedata"} ! adrenal gland disease
property_value: exactMatch DOID:3952
property_value: exactMatch http://identifiers.org/mesh/D000303
property_value: exactMatch http://identifiers.org/snomedct/129636003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001614

[Term]
id: MONDO:0002817
name: adrenal gland cancer
def: "A malignant neoplasm involving the adrenal gland" [MONDO:DesignPattern]
subset: gard_rare
synonym: "adrenal cancer" EXACT [DOID:3953, NCIT:C9338]
synonym: "adrenal gland cancer" EXACT [MONDO:patterns/location]
synonym: "adrenal neoplasm" EXACT [CSP2005:2009-6040, DOID:3953]
synonym: "cancer of adrenal gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9338]
synonym: "malignant adrenal gland tumor" EXACT [NCIT:C9338]
synonym: "malignant adrenal neoplasm" EXACT [NCIT:C9338]
synonym: "malignant adrenal tumor" EXACT [DOID:3953, NCIT:C9338]
synonym: "malignant neoplasm of adrenal gland" EXACT [DOID:3953, ICD9CM_2006:194.0, MONDO:patterns/cancer, NCIT:C9338]
synonym: "malignant neoplasm of the adrenal gland" EXACT [NCIT:C9338]
synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338]
synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338]
synonym: "neoplasm of adrenal gland" EXACT EXCLUDE [DOID:3953]
synonym: "tumor of the adrenal gland" EXACT [DOID:3953, NCIT:C2859]
xref: DOID:3953 {source="MONDO:equivalentTo"}
xref: GARD:0005751 {source="MONDO:equivalentTo"}
xref: ICD10:C74 {source="DOID:3953"}
xref: ICD10:C74.9 {source="DOID:3953"}
xref: ICD9:194.0 {source="DOID:3953"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000310 {source="DOID:3953", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9338 {source="DOID:3953", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:127021009 {source="MONDO:kboom-pr-0.89/0.75/0.45", source="DOID:3953", source="MONDO:equivalentTo"}
is_a: MONDO:0005941 {source="NCIT:C9338", source="linkedlifedata"} ! retroperitoneal cancer
is_a: MONDO:0021069 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant"} ! malignant endocrine neoplasm
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C9338"} ! adrenal gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188337000
property_value: closeMatch http://identifiers.org/snomedct/188338005
property_value: closeMatch http://identifiers.org/snomedct/363355002
property_value: closeMatch http://identifiers.org/snomedct/93665005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001624
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750887
property_value: exactMatch DOID:3953
property_value: exactMatch http://identifiers.org/mesh/D000310
property_value: exactMatch http://identifiers.org/snomedct/127021009
property_value: exactMatch NCIT:C9338

[Term]
id: MONDO:0002818
name: obsolete adrenal cortical adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0002819
name: obsolete Loeffler endocarditis
is_obsolete: true
replaced_by: MONDO:0019159

[Term]
id: MONDO:0002820
name: obsolete thyroid carcinoma
is_obsolete: true
replaced_by: MONDO:0015075

[Term]
id: MONDO:0002821
name: trabecular follicular adenocarcinoma
synonym: "follicular adenocarcinoma, trabecular" EXACT [DOID:3964]
synonym: "follicular adenocarcinoma, trabecular (morphologic abnormality)" EXACT [DOID:3964]
synonym: "trabecular follicular carcinoma" EXACT [DOID:3964, NCIT:C7385]
xref: DOID:3964 {source="MONDO:equivalentTo"}
xref: UMLS:C0334327 {source="MEDGEN:kboom-pr98-c99", source="DOID:3964", source="MONDO:equivalentTo"}
is_a: MONDO:0005034 {source="DOID:3964", source="MONDOLEX:0002821"} ! thyroid gland follicular carcinoma
property_value: closeMatch http://identifiers.org/snomedct/72174007
property_value: exactMatch DOID:3964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334327

[Term]
id: MONDO:0002822
name: trabecular adenocarcinoma
def: "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." [NCIT:C4068]
synonym: "Merkel cell carcinoma" RELATED [DOID:3965]
synonym: "trabecula adenocarcinoma" EXACT []
synonym: "trabecular adenocarcinoma" EXACT [NCIT:C4068]
synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3965]
synonym: "trabecular carcinoma" EXACT [DOID:3965, NCIT:C4068]
xref: DOID:3965 {source="MONDO:equivalentTo"}
xref: ICDO:8190/3 {source="NCIT:C4068"}
xref: ICDO:8332/3 {source="NCIT:C4068"}
xref: NCIT:C4068 {source="MONDO:equivalentTo", source="DOID:3965"}
xref: UMLS:C0302182 {source="MONDO:equivalentTo", source="NCIT:C4068", source="DOID:3965"}
is_a: MONDO:0004970 {source="MONDO:Redundant", source="MONDOLEX:0002822", source="NCIT:C4068"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/29792007
property_value: exactMatch DOID:3965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302182
property_value: exactMatch NCIT:C4068

[Term]
id: MONDO:0002823
name: obsolete thyroid gland medullary carcinoma
is_obsolete: true
replaced_by: MONDO:0015277

[Term]
id: MONDO:0002824
name: extrinsic cardiomyopathy
def: "A cardiomyopathy that is not due to abnormalities in heart muscle cells." [https://en.wikipedia.org/wiki/Cardiomyopathy, https://www.emedicinehealth.com/cardiomyopathy/article_em.htm]
synonym: "secondary cardiomyopathy" EXACT [https://en.wikipedia.org/wiki/Cardiomyopathy]
xref: DOID:3978 {source="MONDO:equivalentTo"}
xref: ICD9:425.8 {source="DOID:3978"}
xref: SCTID:195029002 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="DOID:3978", source="linkedlifedata"} ! cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/195580005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155699
property_value: exactMatch DOID:3978
property_value: exactMatch http://identifiers.org/snomedct/195029002

[Term]
id: MONDO:0002825
name: obsolete Meige syndrome
is_obsolete: true
replaced_by: MONDO:0019772

[Term]
id: MONDO:0002826
name: obsolete tuberculosis
is_obsolete: true
replaced_by: MONDO:0018076

[Term]
id: MONDO:0002827
name: obsolete urinary system cancer
is_obsolete: true
replaced_by: MONDO:0006295

[Term]
id: MONDO:0002828
name: Bartholin gland transitional cell carcinoma
def: "A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells." [NCIT:P378]
synonym: "Bartholin gland transitional cell carcinoma" EXACT [DOID:3998, NCIT:C40297]
synonym: "Bartholin's gland transitional cell carcinoma" EXACT [NCIT:C40297]
synonym: "major vestibular gland transitional cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3998 {source="MONDO:equivalentTo"}
xref: NCIT:C40297 {source="MONDO:equivalentTo", source="DOID:3998", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1511053 {source="MONDO:equivalentTo", source="DOID:3998", source="NCIT:C40297"}
is_a: MONDO:0002829 {source="DOID:3998", source="MONDO:Redundant", source="NCIT:C40297"} ! bartholin gland carcinoma
is_a: MONDO:0006474 {source="DOID:3998", source="MONDO:Redundant", source="MONDOLEX:0002828", source="NCIT:C40297"} ! transitional cell carcinoma
property_value: exactMatch DOID:3998
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511053
property_value: exactMatch NCIT:C40297

[Term]
id: MONDO:0002829
name: bartholin gland carcinoma
def: "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." [NCIT:C9055]
synonym: "Bartholin gland cancer" EXACT [NCIT:C9055]
synonym: "bartholin gland carcinoma" EXACT [DOID:3999, MONDO:ambiguous, NCIT:C9055]
synonym: "Bartholin gland carcinoma (disease)" EXACT [MONDO:0006100]
synonym: "Bartholin's gland cancer" EXACT [DOID:3999, NCIT:C9055]
synonym: "Bartholin's gland carcinoma" EXACT [NCIT:C9055]
synonym: "carcinoma of Bartholin's gland" EXACT [DOID:3999, NCIT:C9055]
synonym: "carcinoma of major vestibular gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Bartholin's gland" EXACT [NCIT:C9055]
synonym: "major vestibular gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3999 {source="MONDO:equivalentTo"}
xref: DOID:60003 {source="MONDO:equivalentTo"}
xref: EFO:1000103 {source="MONDO:equivalentTo"}
xref: HP:0030419 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C9055 {source="MONDO:equivalentTo", source="DOID:3999", source="EFO:1000103"}
xref: SCTID:276876007 {source="MONDO:equivalentTo", source="DOID:3999", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349561 {source="MONDO:equivalentTo", source="DOID:3999", source="NCIT:C9055"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0005215 {source="DOID:3999", source="EFO:1000103", source="MONDO:Redundant", source="NCIT:C9055", source="linkedlifedata"} ! vulvar carcinoma
is_a: MONDO:0021114 {source="MONDO:Redundant", source="NCIT:C9055", source="OWLReasoner:2017"} ! Bartholin gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/399533005
property_value: exactMatch DOID:3999
property_value: exactMatch DOID:60003
property_value: exactMatch http://identifiers.org/snomedct/276876007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349561
property_value: exactMatch NCIT:C9055

[Term]
id: MONDO:0002830
name: obsolete ovary transitional cell carcinoma
synonym: "ovary transitional cell carcinoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0006343

[Term]
id: MONDO:0002831
name: non-keratinizing sinonasal squamous cell carcinoma
def: "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization." [NCIT:C54287]
comment: Editor note: TODO check ONCOTREE mapping
synonym: "cylindrical cell carcinoma" EXACT [DOID:4003]
synonym: "non-keratinizing sinonasal squamous cell carcinoma" EXACT [NCIT:C54287]
synonym: "Ringertz carcinoma" RELATED [NCIT:C54287]
synonym: "Schneiderian carcinoma" RELATED [NCIT:C54287]
synonym: "Sinonasal cylindrical cell carcinoma" RELATED [NCIT:C54287]
synonym: "Sinonasal Schneiderian carcinoma" RELATED [NCIT:C54287]
synonym: "sinonasal squamous cell carcinoma" RELATED [ONCOTREE:SNSC]
synonym: "Sinonasal transitional cell carcinoma" RELATED [NCIT:C54287]
xref: DOID:4003 {source="MONDO:equivalentTo"}
xref: ICDO:8121/3 {source="NCIT:C54287"}
xref: NCIT:C54287 {source="DOID:4003", source="MONDO:equivalentTo", source="NCIT:C54287"}
xref: ONCOTREE:SNSC {source="MONDO:equivalentTo"}
xref: UMLS:C0334270 {source="DOID:4003", source="MONDO:equivalentTo", source="NCIT:C54287"}
is_a: MONDO:0044787 {source="NCIT:C54287"} ! nasal cavity and paranasal sinus squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0001748 {source="DOID:4003"} ! maxillary sinus carcinoma
property_value: closeMatch http://identifiers.org/snomedct/5600009
property_value: exactMatch DOID:4003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334270
property_value: exactMatch NCIT:C54287

[Term]
id: MONDO:0002832
name: endometrial transitional cell carcinoma
def: "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells." [NCIT:C40154]
synonym: "endometrial transitional cell carcinoma" EXACT [NCIT:C40154]
xref: DOID:4005 {source="MONDO:equivalentTo"}
xref: NCIT:C40154 {source="DOID:4005", source="MONDO:equivalentTo"}
xref: UMLS:C1516864 {source="DOID:4005", source="MONDO:equivalentTo", source="NCIT:C40154"}
is_a: MONDO:0002447 {source="DOID:4005", source="NCIT:C40154"} ! endometrial carcinoma (disease)
is_a: MONDO:0006474 {source="MONDOLEX:0002832", source="NCIT:C40154"} ! transitional cell carcinoma
property_value: exactMatch DOID:4005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516864
property_value: exactMatch NCIT:C40154

[Term]
id: MONDO:0002833
name: fallopian tube transitional cell carcinoma
def: "A rare transitional cell carcinoma that arises from the fallopian tube." [NCIT:C40104]
synonym: "fallopian tube transitional cell cancer" EXACT [NCIT:C40104]
synonym: "fallopian tube transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C40104]
xref: DOID:4008 {source="MONDO:equivalentTo"}
xref: NCIT:C40104 {source="DOID:4008", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1517128 {source="DOID:4008", source="MONDO:equivalentTo", source="NCIT:C40104"}
is_a: MONDO:0006206 {source="DOID:4008", source="MONDO:Redundant", source="NCIT:C40104"} ! fallopian tube carcinoma
is_a: MONDO:0006474 {source="DOID:4008", source="MONDO:Redundant", source="MONDOLEX:0002833", source="NCIT:C40104"} ! transitional cell carcinoma
property_value: exactMatch DOID:4008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517128
property_value: exactMatch NCIT:C40104

[Term]
id: MONDO:0002834
name: primary prostate urothelial carcinoma
def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra." [NCIT:C39898]
synonym: "primary prostate urothelial cancer" EXACT [NCIT:C39898]
synonym: "primary prostate urothelial carcinoma" EXACT [NCIT:C39898]
synonym: "prostate gland transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate transitional cell carcinoma" EXACT [NCIT:C39898]
synonym: "prostate urothelial carcinoma" EXACT [NCIT:C39898]
synonym: "transitional cell carcinoma of prostate" EXACT [DOID:4011, NCIT:C39898, NCIT:C5540]
synonym: "transitional cell carcinoma of the prostate" EXACT [NCIT:C39898]
xref: DOID:4011 {source="MONDO:equivalentTo"}
xref: NCIT:C39898 {source="MONDO:equivalentTo"}
xref: UMLS:C1514430 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C39898"}
is_a: MONDO:0005159 {source="DOID:4011", source="MONDO:Redundant", source="MONDOLEX:0002834", source="NCIT:C39898"} ! prostate carcinoma
is_a: MONDO:0006474 {source="DOID:4011", source="MONDO:0002834/inferred", source="MONDO:Entailed", source="MONDOLEX:0002834/inferred", source="NCIT:C39898/inferred"} ! transitional cell carcinoma
property_value: exactMatch DOID:4011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514430
property_value: exactMatch NCIT:C39898

[Term]
id: MONDO:0002835
name: obsolete papillary transitional carcinoma
is_obsolete: true
replaced_by: MONDO:0006350

[Term]
id: MONDO:0002836
name: urethra transitional cell carcinoma
def: "A transitional cell carcinoma that arises from the male or female urethra." [NCIT:P378]
synonym: "transitional cell carcinoma of the urethra" EXACT [NCIT:C6166]
synonym: "transitional cell carcinoma of urethra" EXACT [NCIT:C6166]
synonym: "UCU" RELATED [ONCOTREE:UCU]
synonym: "urethra transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral transitional cell carcinoma" EXACT [DOID:4013, NCIT:C6166]
synonym: "urethral urothelial cancer" EXACT [NCIT:C6166]
synonym: "urethral urothelial carcinoma" EXACT [NCIT:C6166]
xref: DOID:4013 {source="MONDO:equivalentTo"}
xref: NCIT:C6166 {source="DOID:4013", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:UCU {source="MONDO:equivalentTo"}
xref: UMLS:C0863015 {source="DOID:4013", source="NCIT:C6166", source="MONDO:equivalentTo"}
is_a: MONDO:0021327 {source="MONDO:Redundant", source="MONDOLEX:0002836", source="NCIT:C6166"} ! carcinoma of urethra
is_a: MONDO:0040679 ! urothelial carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL448335
property_value: exactMatch DOID:4013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0863015
property_value: exactMatch NCIT:C6166

[Term]
id: MONDO:0002837
name: sarcomatoid transitional cell carcinoma
def: "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." [NCIT:C4120]
synonym: "sarcomatoid transitional cell carcinoma" EXACT [NCIT:C4120]
synonym: "transitional cell carcinoma, sarcomatoid" EXACT [DOID:4014]
synonym: "transitional cell spindle cell carcinoma" EXACT [NCIT:C4120]
synonym: "transitional spindle cell carcinoma" EXACT [DOID:4014, NCIT:C4120]
xref: DOID:4014 {source="MONDO:equivalentTo"}
xref: ICDO:8122/3 {source="NCIT:C4120"}
xref: NCIT:C4120 {source="DOID:4014", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334271 {source="NCIT:C4120", source="DOID:4014", source="MONDO:equivalentTo"}
is_a: MONDO:0006406 {source="MONDOLEX:0002837", source="NCIT:C4120"} ! sarcomatoid carcinoma
is_a: MONDO:0006474 {source="DOID:4014", source="MONDOLEX:0002837", source="NCIT:C4120"} ! transitional cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/112676006
property_value: exactMatch DOID:4014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334271
property_value: exactMatch NCIT:C4120

[Term]
id: MONDO:0002838
name: obsolete spindle cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006406

[Term]
id: MONDO:0002839
name: leather-bottle stomach
def: "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42, NCIT:C3190]
synonym: "linitis plastica" EXACT [DOID:4023]
synonym: "linitis plastica (morphologic abnormality)" EXACT [DOID:4023]
xref: DOID:4023 {source="MONDO:equivalentTo"}
xref: ICDO:8142/3 {source="NCIT:C3190"}
xref: MESH:D008039 {source="DOID:4023", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3190 {source="DOID:4023", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0023743 {source="DOID:4023", source="MONDO:equivalentTo", source="NCIT:C3190"}
is_a: MONDO:0004298 ! stomach disease
is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition
relationship: excluded_subClassOf MONDO:0005017 {source="DOID:4023"} ! diffuse gastric adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/307594007
property_value: closeMatch http://identifiers.org/snomedct/37995004
property_value: exactMatch DOID:4023
property_value: exactMatch http://identifiers.org/mesh/D008039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023743
property_value: exactMatch NCIT:C3190

[Term]
id: MONDO:0002840
name: eosinophilic gastritis
def: "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach." [https://github.com/monarch-initiative/mondo/issues/403#issuecomment-601466719]
synonym: "eosinophilic gastritis" EXACT [NCIT:C27052]
xref: COHD:195309 {source="MONDO:equivalentTo"}
xref: DOID:4030 {source="MONDO:equivalentTo"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:535.7 {source="DOID:4030"}
xref: ICD9:535.70 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27052 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4030"}
xref: SCTID:66329006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4030"}
xref: UMLS:C0267154 {source="MONDO:equivalentTo", source="DOID:4030", source="NCIT:C27052"}
is_a: MONDO:0004966 {source="DOID:4030", source="MONDOLEX:0002840", source="NCIT:C27052", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
is_a: MONDO:0016129 {source="NCIT:C27052"} ! eosinophilic gastroenteritis
property_value: closeMatch http://identifiers.org/snomedct/196738004
property_value: exactMatch DOID:4030
property_value: exactMatch http://identifiers.org/snomedct/66329006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267154
property_value: exactMatch NCIT:C27052
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/403 xsd:string

[Term]
id: MONDO:0002841
name: obsolete eosinophilic gastroenteritis
is_obsolete: true
replaced_by: MONDO:0016129

[Term]
id: MONDO:0002842
name: bacterial gastritis
def: "Gastritis resulting from bacteria." [NCIT:C27340]
synonym: "Bacteria caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria gastritis (disease)" EXACT []
synonym: "bacterial gastritis" EXACT [NCIT:C27340]
xref: DOID:4033 {source="MONDO:equivalentTo"}
xref: NCIT:C27340 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4033"}
xref: SCTID:723096000 {source="MONDO:kboom-pr-1.00/0.75/6.94", source="MONDO:equivalentTo"}
xref: UMLS:C0948039 {source="NCIT:C27340", source="MONDO:equivalentTo", source="DOID:4033"}
is_a: MONDO:0004966 {source="DOID:4033", source="MONDO:Redundant", source="MONDOLEX:0002842", source="NCIT:C27340", source="linkedlifedata"} ! gastritis (disease)
is_a: MONDO:0005113 ! bacterial infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:4033
property_value: exactMatch http://identifiers.org/snomedct/723096000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948039
property_value: exactMatch NCIT:C27340

[Term]
id: MONDO:0002843
name: fungal gastritis
def: "Gastritis resulting from fungi." [NCIT:C27342]
synonym: "fungal gastritis" EXACT [NCIT:C27342]
synonym: "Fungi caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi gastritis (disease)" EXACT []
xref: DOID:4034 {source="MONDO:equivalentTo"}
xref: NCIT:C27342 {source="DOID:4034", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:723097009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.20"}
xref: UMLS:C0948638 {source="DOID:4034", source="NCIT:C27342", source="MONDO:equivalentTo"}
is_a: MONDO:0002041 ! fungal infectious disease
is_a: MONDO:0004966 {source="DOID:4034", source="MONDO:Redundant", source="MONDOLEX:0002843", source="NCIT:C27342", source="linkedlifedata"} ! gastritis (disease)
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:4034
property_value: exactMatch http://identifiers.org/snomedct/723097009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948638
property_value: exactMatch NCIT:C27342

[Term]
id: MONDO:0002844
name: lymphocytic gastritis
synonym: "lymphocytic gastritis" EXACT [NCIT:C27051]
xref: DOID:4035 {source="MONDO:equivalentTo"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27051 {source="DOID:4035", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:360375007 {source="DOID:4035", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1283271 {source="DOID:4035", source="MONDO:equivalentTo", source="NCIT:C27051"}
is_a: MONDO:0004966 {source="DOID:4035", source="MONDOLEX:0002844", source="NCIT:C27051", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/235658000
property_value: exactMatch DOID:4035
property_value: exactMatch http://identifiers.org/snomedct/360375007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1283271
property_value: exactMatch NCIT:C27051

[Term]
id: MONDO:0002845
name: necrotizing gastritis
def: "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." [NCIT:P378]
synonym: "necrotizing gastritis" EXACT [NCIT:C27329]
xref: DOID:4037 {source="MONDO:equivalentTo"}
xref: NCIT:C27329 {source="DOID:4037", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0877152 {source="DOID:4037", source="MONDO:equivalentTo", source="NCIT:C27329"}
is_a: MONDO:0004966 {source="DOID:4037", source="MONDOLEX:0002845", source="NCIT:C27329"} ! gastritis (disease)
property_value: exactMatch DOID:4037
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877152
property_value: exactMatch NCIT:C27329

[Term]
id: MONDO:0002846
name: granulomatous gastritis
def: "Gastritis that is associated with the presence of granulomas." [NCIT:C27348]
synonym: "granulomatous gastritis" EXACT [NCIT:C27348]
xref: DOID:4038 {source="MONDO:equivalentTo"}
xref: ICD10:K29.6 {source="DOID:4038"}
xref: NCIT:C27348 {source="DOID:4038", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1112577 {source="DOID:4038", source="MONDO:equivalentTo", source="NCIT:C27348"}
is_a: MONDO:0004966 {source="DOID:4038", source="MONDOLEX:0002846", source="NCIT:C27348"} ! gastritis (disease)
property_value: exactMatch DOID:4038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112577
property_value: exactMatch NCIT:C27348

[Term]
id: MONDO:0002847
name: skeletal muscle cancer
def: "A malignant neoplasm arising from skeletal muscle." [NCIT:P378]
synonym: "cancer of skeletal muscle tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skeletal muscle" EXACT [NCIT:C6516]
synonym: "malignant neoplasm of skeletal muscle tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the skeletal muscle" EXACT [NCIT:C6516]
synonym: "malignant skeletal muscle neoplasm" EXACT [NCIT:C6516]
synonym: "malignant skeletal muscle tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant skeletal muscle tumor" EXACT [NCIT:C6516]
synonym: "malignant tumor of skeletal muscle" EXACT [DOID:4043, NCIT:C6516]
synonym: "malignant tumor of the skeletal muscle" EXACT [NCIT:C6516]
synonym: "skeletal muscle tissue cancer" EXACT [MONDO:patterns/location]
xref: DOID:4043 {source="MONDO:equivalentTo"}
xref: NCIT:C6516 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4043"}
xref: UMLS:C1334619 {source="MONDO:equivalentTo", source="NCIT:C6516", source="DOID:4043"}
is_a: MONDO:0002848 {source="MONDO:Redundant", source="NCIT:C6516"} ! skeletal muscle neoplasm
is_a: MONDO:0005864 {source="DOID:4043", source="MONDO:Redundant", source="NCIT:C6516"} ! muscle cancer
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:4043
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334619
property_value: exactMatch NCIT:C6516

[Term]
id: MONDO:0002848
name: skeletal muscle neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." [NCIT:C6514]
synonym: "neoplasm of skeletal muscle" EXACT [NCIT:C6514]
synonym: "neoplasm of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the skeletal muscle" EXACT [NCIT:C6514]
synonym: "skeletal muscle neoplasm" EXACT [NCIT:C6514]
synonym: "skeletal muscle tissue neoplasm" EXACT []
synonym: "skeletal muscle tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "skeletal muscle tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "skeletal muscle tumor" EXACT [NCIT:C6514]
synonym: "tumor of skeletal muscle" EXACT [DOID:4044, NCIT:C6514]
synonym: "tumor of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the skeletal muscle" EXACT [NCIT:C6514]
xref: DOID:4044 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6514 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4044"}
xref: SCTID:699955004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64", source="DOID:4044"}
xref: UMLS:C1335971 {source="MONDO:equivalentTo", source="NCIT:C6514", source="DOID:4044"}
is_a: MONDO:0001406 ! peripheral nervous system neoplasm
is_a: MONDO:0020120 {source="MONDO:Redundant", source="linkedlifedata"} ! skeletal muscle disease
property_value: exactMatch DOID:4044
property_value: exactMatch http://identifiers.org/snomedct/699955004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335971
property_value: exactMatch NCIT:C6514

[Term]
id: MONDO:0002849
name: liver rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver." [NCIT:C5834]
synonym: "hepatic rhabdomyosarcoma" EXACT [NCIT:C5834]
synonym: "liver rhabdomyosarcoma" EXACT [NCIT:C5834]
synonym: "liver rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of liver" EXACT []
synonym: "rhabdomyosarcoma of liver" EXACT [DOID:4047, NCIT:C5834]
synonym: "rhabdomyosarcoma of the liver" EXACT [NCIT:C5834]
xref: DOID:4047 {source="MONDO:equivalentTo"}
xref: NCIT:C5834 {source="DOID:4047", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333975 {source="DOID:4047", source="MONDO:equivalentTo", source="NCIT:C5834"}
is_a: MONDO:0002397 {source="DOID:4047", source="MONDO:Redundant", source="NCIT:C5834"} ! liver sarcoma
is_a: MONDO:0005212 {source="DOID:4047", source="MONDO:Redundant", source="NCIT:C5834"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333975
property_value: exactMatch NCIT:C5834

[Term]
id: MONDO:0002850
name: central nervous system rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." [NCIT:C5464]
synonym: "central nervous system rhabdomyosarcoma" EXACT [NCIT:C5464]
synonym: "central nervous system rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS rhabdomyosarcoma" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma (disease) of central nervous system" EXACT []
synonym: "rhabdomyosarcoma of central nervous system" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of CNS" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of the central nervous system" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of the CNS" EXACT [DOID:4048, NCIT:C5464]
xref: DOID:4048 {source="MONDO:equivalentTo"}
xref: NCIT:C5464 {source="DOID:4048", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332891 {source="DOID:4048", source="NCIT:C5464", source="MONDO:equivalentTo"}
is_a: MONDO:0002217 {source="DOID:4048", source="MONDO:Redundant", source="NCIT:C5464"} ! central nervous system sarcoma
is_a: MONDO:0005212 {source="DOID:4048", source="MONDO:Redundant", source="NCIT:C5464"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332891
property_value: exactMatch NCIT:C5464

[Term]
id: MONDO:0002851
name: mediastinum rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum." [NCIT:P378]
synonym: "mediastinal rhabdomyosarcoma" EXACT [NCIT:C6617]
synonym: "mediastinum rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of mediastinum" EXACT []
synonym: "rhabdomyosarcoma of mediastinum" EXACT [DOID:4049, NCIT:C6617]
synonym: "rhabdomyosarcoma of the mediastinum" EXACT [NCIT:C6617]
xref: DOID:4049 {source="MONDO:equivalentTo"}
xref: NCIT:C6617 {source="DOID:4049", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334677 {source="DOID:4049", source="MONDO:equivalentTo", source="NCIT:C6617"}
is_a: MONDO:0002852 {source="DOID:4049", source="MONDO:Redundant", source="NCIT:C6617"} ! mediastinum sarcoma
is_a: MONDO:0005212 {source="DOID:4049", source="MONDO:Redundant", source="NCIT:C6617"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334677
property_value: exactMatch NCIT:C6617

[Term]
id: MONDO:0002852
name: mediastinum sarcoma
def: "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." [NCIT:P378]
synonym: "mediastinal sarcoma" EXACT [NCIT:C6606]
synonym: "mediastinum sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of mediastinum" EXACT [DOID:4050, MONDO:patterns/sarcoma, NCIT:C6606]
synonym: "sarcoma of the mediastinum" EXACT [NCIT:C6606]
xref: DOID:4050 {source="MONDO:equivalentTo"}
xref: NCIT:C6606 {source="MONDO:equivalentTo", source="DOID:4050", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334678 {source="MONDO:equivalentTo", source="DOID:4050", source="NCIT:C6606"}
is_a: MONDO:0018078 {source="NCIT:C6606"} ! soft tissue sarcoma
is_a: MONDO:0037743 ! mediastinal soft tissue cancer
property_value: exactMatch DOID:4050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334678
property_value: exactMatch NCIT:C6606

[Term]
id: MONDO:0002853
name: rectum rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum." [NCIT:P378]
synonym: "rectal rhabdomyosarcoma" EXACT [NCIT:C5627]
synonym: "rectum rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of rectum" EXACT []
synonym: "rhabdomyosarcoma of rectum" EXACT [DOID:4053, NCIT:C5627]
synonym: "rhabdomyosarcoma of the rectum" EXACT [NCIT:C5627]
xref: DOID:4053 {source="MONDO:equivalentTo"}
xref: NCIT:C5627 {source="MONDO:equivalentTo", source="DOID:4053", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335687 {source="MONDO:equivalentTo", source="DOID:4053", source="NCIT:C5627"}
is_a: MONDO:0002168 {source="DOID:4053", source="MONDO:Redundant", source="MONDOLEX:0002853", source="NCIT:C5627"} ! rectum sarcoma
is_a: MONDO:0005212 {source="DOID:4053", source="MONDO:Redundant", source="NCIT:C5627"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335687
property_value: exactMatch NCIT:C5627

[Term]
id: MONDO:0002854
name: prostate sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." [NCIT:C7731]
synonym: "prostate gland sarcoma" EXACT [MONDO:patterns/location]
synonym: "prostate sarcoma" EXACT [NCIT:C7731]
synonym: "sarcoma of prostate" EXACT [NCIT:C7731]
synonym: "sarcoma of prostate gland" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the prostate" EXACT [DOID:4054, NCIT:C7731]
xref: DOID:4054 {source="MONDO:equivalentTo"}
xref: NCIT:C7731 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4054"}
xref: UMLS:C0238393 {source="MONDO:equivalentTo", source="NCIT:C7731", source="DOID:4054"}
is_a: MONDO:0008315 {source="DOID:4054", source="MONDO:Redundant", source="NCIT:C7731"} ! prostate cancer
is_a: MONDO:0018078 {source="NCIT:C7731"} ! soft tissue sarcoma
property_value: exactMatch DOID:4054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238393
property_value: exactMatch NCIT:C7731

[Term]
id: MONDO:0002855
name: ectomesenchymoma
def: "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." [NCIT:C4716]
synonym: "ectomesenchymoma" EXACT [NCIT:C4716]
synonym: "malignant ectomesenchymoma" EXACT [NCIT:C4716]
synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [DOID:4055]
synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [DOID:4055]
synonym: "sarcoma with ganglionic or neuroectodermal differentiation" EXACT [NCIT:C4716]
xref: DOID:4055 {source="MONDO:equivalentTo"}
xref: GARD:0012279 {source="MONDO:equivalentTo"}
xref: ICDO:8921/3 {source="NCIT:C4716"}
xref: NCIT:C4716 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4055"}
xref: UMLS:C0431111 {source="NCIT:C4716", source="MONDO:equivalentTo", source="DOID:4055"}
is_a: MONDO:0005089 {source="NCIT:C4716/inferred"} ! sarcoma
is_a: MONDO:0005872 ! nervous system cancer
relationship: excluded_subClassOf MONDO:0003244 {source="DOID:4055"} ! central nervous system mesenchymal non-meningothelial tumor
property_value: closeMatch http://identifiers.org/snomedct/128750008
property_value: exactMatch DOID:4055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431111
property_value: exactMatch NCIT:C4716

[Term]
id: MONDO:0002856
name: gallbladder rhabdomyosarcoma
def: "A rhabdomyosarcoma that is located in the gallbladder." [MONDO:DesignPattern]
synonym: "gall bladder rhabdomyosarcoma" EXACT []
synonym: "gall bladder rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder rhabdomyosarcoma" EXACT [NCIT:C5839]
synonym: "rhabdomyosarcoma (disease) of gall bladder" EXACT []
synonym: "rhabdomyosarcoma of gallbladder" EXACT [NCIT:C5839]
synonym: "rhabdomyosarcoma of the gallbladder" EXACT [DOID:4057, NCIT:C5839]
xref: DOID:4057 {source="MONDO:equivalentTo"}
xref: NCIT:C5839 {source="DOID:4057", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333756 {source="DOID:4057", source="NCIT:C5839", source="MONDO:equivalentTo"}
is_a: MONDO:0002857 {source="DOID:4057", source="MONDO:Redundant", source="MONDOLEX:0002856", source="NCIT:C5839"} ! gallbladder sarcoma
is_a: MONDO:0005212 ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333756
property_value: exactMatch NCIT:C5839

[Term]
id: MONDO:0002857
name: gallbladder sarcoma
def: "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." [NCIT:C5736]
synonym: "gall bladder sarcoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder sarcoma" EXACT [NCIT:C5736]
synonym: "malignant mesenchymal tumor of gallbladder" EXACT [DOID:4058, NCIT:C5736]
synonym: "sarcoma of gall bladder" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of gallbladder" EXACT [NCIT:C5736]
synonym: "sarcoma of the gallbladder" EXACT [NCIT:C5736]
xref: DOID:4058 {source="MONDO:equivalentTo"}
xref: NCIT:C5736 {source="DOID:4058", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333757 {source="DOID:4058", source="MONDO:equivalentTo", source="NCIT:C5736"}
is_a: MONDO:0005411 {source="DOID:4058", source="MONDO:Redundant", source="NCIT:C5736"} ! gallbladder cancer
is_a: MONDO:0018078 {source="MONDO:Redundant", source="MONDOLEX:0002857", source="NCIT:C5736"} ! soft tissue sarcoma
property_value: exactMatch DOID:4058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333757
property_value: exactMatch NCIT:C5736

[Term]
id: MONDO:0002858
name: ovary rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries." [NCIT:P378]
synonym: "ovarian rhabdomyosarcoma" EXACT [NCIT:C5236]
synonym: "ovary rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of ovary" EXACT []
synonym: "rhabdomyosarcoma of ovary" EXACT [DOID:4059, NCIT:C5236]
synonym: "rhabdomyosarcoma of the ovary" EXACT [NCIT:C5236]
xref: DOID:4059 {source="MONDO:equivalentTo"}
xref: NCIT:C5236 {source="DOID:4059", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335176 {source="DOID:4059", source="MONDO:equivalentTo", source="NCIT:C5236"}
is_a: MONDO:0002225 {source="DOID:4059", source="MONDO:Redundant", source="NCIT:C5236"} ! ovarian sarcoma
is_a: MONDO:0005212 {source="DOID:4059", source="MONDO:Redundant", source="NCIT:C5236"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335176
property_value: exactMatch NCIT:C5236

[Term]
id: MONDO:0002859
name: breast rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." [NCIT:C5190]
synonym: "breast rhabdomyosarcoma" EXACT [NCIT:C5190]
synonym: "breast rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of breast" EXACT []
synonym: "rhabdomyosarcoma of breast" EXACT [NCIT:C5190]
synonym: "rhabdomyosarcoma of the breast" EXACT [DOID:4060, NCIT:C5190]
xref: DOID:4060 {source="MONDO:equivalentTo"}
xref: NCIT:C5190 {source="MONDO:equivalentTo", source="DOID:4060", source="exact-label-match"}
xref: UMLS:C1332637 {source="MONDO:equivalentTo", source="DOID:4060", source="NCIT:C5190"}
is_a: MONDO:0002490 {source="DOID:4060", source="MONDO:Redundant", source="NCIT:C5190"} ! breast sarcoma
is_a: MONDO:0005212 {source="DOID:4060", source="MONDO:Redundant", source="NCIT:C5190"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332637
property_value: exactMatch NCIT:C5190

[Term]
id: MONDO:0002860
name: testis rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis." [NCIT:P378]
synonym: "rhabdomyosarcoma (disease) of testis" EXACT []
synonym: "rhabdomyosarcoma of testis" EXACT [DOID:4061, NCIT:C6378]
synonym: "rhabdomyosarcoma of the testis" EXACT [NCIT:C6378]
synonym: "testicular rhabdomyosarcoma" EXACT [NCIT:C6378]
synonym: "testis rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4061 {source="MONDO:equivalentTo"}
xref: NCIT:C6378 {source="MONDO:equivalentTo", source="DOID:4061", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336726 {source="MONDO:equivalentTo", source="NCIT:C6378", source="DOID:4061"}
is_a: MONDO:0002861 {source="DOID:4061", source="MONDO:Redundant", source="NCIT:C6378"} ! testis sarcoma
is_a: MONDO:0005212 {source="DOID:4061", source="MONDO:Redundant", source="NCIT:C6378"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:4061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336726
property_value: exactMatch NCIT:C6378

[Term]
id: MONDO:0002861
name: testis sarcoma
def: "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas." [NCIT:C6359]
synonym: "sarcoma of testis" EXACT [DOID:4062, MONDO:patterns/sarcoma, NCIT:C6359]
synonym: "sarcoma of the testis" EXACT [NCIT:C6359]
synonym: "testicular sarcoma" EXACT [NCIT:C6359]
synonym: "testis sarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4062 {source="MONDO:equivalentTo"}
xref: NCIT:C6359 {source="MONDO:equivalentTo", source="DOID:4062"}
xref: UMLS:C1336727 {source="MONDO:equivalentTo", source="NCIT:C6359", source="DOID:4062"}
is_a: MONDO:0005447 {source="DOID:4062", source="MONDO:Redundant", source="NCIT:C6359"} ! testicular cancer
is_a: MONDO:0018078 {source="NCIT:C6359"} ! soft tissue sarcoma
property_value: exactMatch DOID:4062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336727
property_value: exactMatch NCIT:C6359

[Term]
id: MONDO:0002862
name: bile duct sarcoma
def: "A sarcoma that involves the bile duct." [MONDO:patterns/location]
synonym: "bile duct sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of bile duct" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the bile duct" EXACT [DOID:4064]
xref: DOID:4064 {source="MONDO:equivalentTo"}
is_a: MONDO:0002397 ! liver sarcoma
is_a: MONDO:0003059 {source="DOID:4064", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct cancer
property_value: exactMatch DOID:4064

[Term]
id: MONDO:0002863
name: rhabdomyosarcoma with mixed embryonal and alveolar features
def: "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." [NCIT:C4259]
synonym: "mixed alveolar rhabdomyosarcoma" EXACT [NCIT:C4259]
synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [DOID:4065]
synonym: "mixed type alveolar rhabdomyosarcoma" EXACT [NCIT:C4259]
synonym: "mixed type rhabdomyosarcoma" EXACT [DOID:4065, NCIT:C4259]
synonym: "rhabdomyosarcoma with mixed embryonal and alveolar features" EXACT [NCIT:C4259]
xref: DOID:4065 {source="MONDO:equivalentTo"}
xref: ICDO:8902/3 {source="NCIT:C4259"}
xref: NCIT:C4259 {source="MONDO:equivalentTo"}
xref: UMLS:C0334481 {source="MONDO:equivalentTo", source="DOID:4065"}
xref: UMLS:C1709053 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4259"}
is_a: MONDO:0005212 {source="DOID:4065", source="NCIT:C4259"} ! rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/62383007
property_value: exactMatch DOID:4065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709053
property_value: exactMatch NCIT:C4259

[Term]
id: MONDO:0002864
name: anus rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus." [NCIT:P378]
synonym: "anal rhabdomyosarcoma" EXACT [NCIT:C5610]
synonym: "anus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of anus" EXACT []
synonym: "rhabdomyosarcoma of anus" EXACT [DOID:4066, NCIT:C5610]
synonym: "rhabdomyosarcoma of the anus" EXACT [NCIT:C5610]
xref: DOID:4066 {source="MONDO:equivalentTo"}
xref: NCIT:C5610 {source="MONDO:equivalentTo", source="DOID:4066", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332276 {source="MONDO:equivalentTo", source="NCIT:C5610", source="DOID:4066"}
is_a: MONDO:0002853 ! rectum rhabdomyosarcoma
is_a: MONDO:0002865 {source="DOID:4066", source="MONDO:Redundant", source="NCIT:C5610"} ! anus sarcoma
property_value: exactMatch DOID:4066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332276
property_value: exactMatch NCIT:C5610

[Term]
id: MONDO:0002865
name: anus sarcoma
def: "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." [NCIT:P378]
synonym: "anal sarcoma" EXACT [NCIT:C5611]
synonym: "anus sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of anus" EXACT [DOID:4067, MONDO:patterns/sarcoma, NCIT:C5611]
synonym: "sarcoma of the anus" EXACT [NCIT:C5611]
xref: DOID:4067 {source="MONDO:equivalentTo"}
xref: NCIT:C5611 {source="DOID:4067", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332277 {source="DOID:4067", source="MONDO:equivalentTo", source="NCIT:C5611"}
is_a: MONDO:0001879 {source="DOID:4067", source="MONDO:Redundant", source="NCIT:C5611"} ! anus cancer
is_a: MONDO:0002168 ! rectum sarcoma
is_a: MONDO:0018078 {source="NCIT:C5611"} ! soft tissue sarcoma
property_value: exactMatch DOID:4067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332277
property_value: exactMatch NCIT:C5611

[Term]
id: MONDO:0002866
name: duodenal disease
def: "Pathological conditions in the duodenum region of the small intestine (intestine, small)." [MESH:D004378]
synonym: "disease of duodenum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of duodenum" EXACT []
synonym: "disorder of duodenum" EXACT [MONDO:patterns/location_top]
synonym: "disorder of duodenum" RELATED [MONDO:patterns/location_top]
synonym: "duodenum disease" EXACT [MONDO:patterns/location]
synonym: "duodenum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "duodenum disorder" EXACT [CSP2005:1248-4501, DOID:4072]
xref: DOID:4072 {source="MONDO:equivalentTo"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:537.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004378 {source="MONDO:equivalentTo", source="DOID:4072", source="MONDO:ontobio"}
xref: SCTID:52182008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.37", source="DOID:4072"}
xref: UMLS:C0013289 {source="MONDO:equivalentTo", source="DOID:4072"}
is_a: MONDO:0024635 ! small intestine disease
property_value: closeMatch http://identifiers.org/snomedct/196598004
property_value: exactMatch DOID:4072
property_value: exactMatch http://identifiers.org/mesh/D004378
property_value: exactMatch http://identifiers.org/snomedct/52182008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013289

[Term]
id: MONDO:0002867
name: pancreatic cystadenocarcinoma
def: "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." [NCIT:C3874]
synonym: "acinar cell cystadenocarcinoma" EXACT [NCIT:C3874]
synonym: "cystadenocarcinoma - pancreas" EXACT [NCIT:C3874]
synonym: "cystadenocarcinoma of pancreas" EXACT [NCIT:C3874]
synonym: "cystadenocarcinoma of the pancreas" EXACT [NCIT:C3874]
synonym: "pancreas cystadenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic cystadenocarcinoma" EXACT [NCIT:C3874]
xref: DOID:4073 {source="MONDO:equivalentTo"}
xref: NCIT:C3874 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:4073", source="MONDO:kboom-pr-0.99/0.78/4.37"}
xref: SCTID:235966007 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:4073", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238337 {source="MONDO:equivalentTo", source="DOID:4073", source="NCIT:C3874"}
is_a: MONDO:0005596 {source="MONDO:Redundant", source="MONDOLEX:0002867", source="NCIT:C3874"} ! cystadenocarcinoma
is_a: MONDO:0006047 {source="DOID:4073", source="MONDO:Redundant", source="MONDOLEX:0002867", source="NCIT:C3874", source="linkedlifedata", source="linkedlifedata/inferred"} ! pancreatic adenocarcinoma
property_value: exactMatch DOID:4073
property_value: exactMatch http://identifiers.org/snomedct/235966007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238337
property_value: exactMatch NCIT:C3874

[Term]
id: MONDO:0002868
name: bile duct mucinous cystic neoplasm with an associated invasive carcinoma
def: "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." [NCIT:C4130]
comment: Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component
synonym: "bile duct cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4130]
synonym: "bile duct cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:4075]
synonym: "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C4130]
synonym: "biliary cystadenocarcinoma" EXACT [DOID:4075, NCIT:C4130]
synonym: "cystadenocarcinoma of bile duct" EXACT [NCIT:C4130]
synonym: "cystadenocarcinoma of the bile duct" EXACT [NCIT:C4130]
xref: DOID:4075 {source="MONDO:equivalentTo"}
xref: ICDO:8161/3 {source="NCIT:C4130"}
xref: NCIT:C4130 {source="MONDO:equivalentTo", source="DOID:4075"}
xref: UMLS:C0334286 {source="NCIT:C4130", source="MONDO:equivalentTo", source="DOID:4075"}
is_a: MONDO:0003420 {source="MONDOLEX:0002868", source="NCIT:C4130"} ! bile duct cystadenoma
relationship: disease_has_feature MONDO:0003193 {source="NCIT:C4130-modified"} ! bile duct adenocarcinoma
relationship: excluded_subClassOf MONDO:0003193 {source="DOID:4075", source="NCIT:C4130"} ! bile duct adenocarcinoma
relationship: excluded_subClassOf MONDO:0005596 {source="DOID:4075"} ! cystadenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/50422007
property_value: exactMatch DOID:4075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334286
property_value: exactMatch NCIT:C4130

[Term]
id: MONDO:0002869
name: heart valve disease
def: "A disease involving the cardial valve." [MONDO:DesignPattern]
synonym: "cardial valve disease" EXACT [MONDO:patterns/location]
synonym: "cardial valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cardial valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cardial valve" EXACT []
synonym: "disorder of cardial valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cardial valve" RELATED [MONDO:patterns/location_top]
synonym: "disorder of heart valve" EXACT [NCIT:C45525]
synonym: "heart valve disorder" EXACT [NCIT:C45525]
synonym: "valvular heart disease" EXACT [DOID:4079]
synonym: "valvular heart disorder" EXACT [NCIT:C45525]
xref: DOID:4079 {source="MONDO:equivalentTo"}
xref: ICD9:424.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006349 {source="DOID:4079", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C45525 {source="DOID:4079", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:368009 {source="DOID:4079", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.45"}
xref: UMLS:C0018824 {source="DOID:4079", source="MONDO:equivalentTo", source="NCIT:C45525"}
is_a: MONDO:0005267 {source="DOID:4079", source="MESH:D006349", source="MONDO:Redundant", source="NCIT:C45525/inferred", source="linkedlifedata"} ! heart disease
property_value: closeMatch http://identifiers.org/mesh/D016127
property_value: closeMatch http://identifiers.org/snomedct/195013005
property_value: closeMatch http://identifiers.org/snomedct/398995000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079485
property_value: exactMatch DOID:4079
property_value: exactMatch http://identifiers.org/mesh/D006349
property_value: exactMatch http://identifiers.org/snomedct/368009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018824
property_value: exactMatch NCIT:C45525

[Term]
id: MONDO:0002870
name: tricuspid valve insufficiency
def: "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." [NCIT:P378]
synonym: "insufficiency, tricuspid" EXACT [NCIT:C50842]
synonym: "tricuspid incompetence" EXACT [DOID:4080]
synonym: "tricuspid insufficiency" EXACT [NCIT:C50842]
synonym: "tricuspid regurgitation" EXACT [DOID:4080, MTHICD9_2006:397.0]
synonym: "tricuspid valve regurgitation" EXACT [DOID:4080]
xref: DOID:4080 {source="MONDO:equivalentTo"}
xref: MESH:D014262 {source="DOID:4080", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50842 {source="DOID:4080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.11"}
xref: SCTID:111287006 {source="DOID:4080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040961 {source="NCIT:C50842", source="DOID:4080", source="MONDO:equivalentTo"}
is_a: MONDO:0000471 {source="DOID:4080", source="NCIT:C50842", source="linkedlifedata"} ! tricuspid valve disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://identifiers.org/snomedct/155347006
property_value: closeMatch http://identifiers.org/snomedct/251009000
property_value: closeMatch http://identifiers.org/snomedct/266298007
property_value: closeMatch NCIT:C50843
property_value: exactMatch DOID:4080
property_value: exactMatch http://identifiers.org/mesh/D014262
property_value: exactMatch http://identifiers.org/snomedct/111287006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040961
property_value: exactMatch NCIT:C50842

[Term]
id: MONDO:0002871
name: testicular trophoblastic tumor
def: "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." [NCIT:C39934]
synonym: "testicular trophoblastic tumor" EXACT [NCIT:C39934]
xref: DOID:4084 {source="MONDO:equivalentTo"}
xref: NCIT:C39934 {source="MONDO:equivalentTo", source="DOID:4084", source="exact-label-match"}
xref: UMLS:C1515301 {source="MONDO:equivalentTo", source="DOID:4084", source="NCIT:C39934"}
is_a: MONDO:0002872 {source="DOID:4084", source="MONDO:Redundant", source="NCIT:C39934"} ! trophoblastic neoplasm
is_a: MONDO:0002874 {source="NCIT:C39934"} ! testicular pure germ cell tumor
is_a: MONDO:0006447 {source="NCIT:C39934"} ! testicular non-seminomatous germ cell tumor
property_value: exactMatch DOID:4084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515301
property_value: exactMatch NCIT:C39934

[Term]
id: MONDO:0002872
name: trophoblastic neoplasm
def: "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." [NCIT:C3422]
synonym: "neoplasm of trophoblast" EXACT [MONDO:patterns/neoplasm]
synonym: "trophoblast neoplasm" EXACT []
synonym: "trophoblast neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trophoblast tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "trophoblastic neoplasm" EXACT [NCIT:C3422]
synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [DOID:4085]
synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [DOID:4085]
synonym: "trophoblastic neoplasms" EXACT [NCIT:C3422]
synonym: "trophoblastic tumor" EXACT [DOID:4085, NCIT:C3422]
synonym: "trophoblastic tumor (qualifier value)" EXACT [DOID:4085]
synonym: "tumor of trophoblast" EXACT [MONDO:patterns/neoplasm]
xref: DOID:4085 {source="MONDO:equivalentTo"}
xref: MESH:D014328 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4085"}
xref: NCIT:C3422 {source="MONDO:equivalentTo"}
xref: UMLS:C0041182 {source="MONDO:equivalentTo", source="NCIT:C3422", source="DOID:4085"}
is_a: MONDO:0005070 ! neoplasm (disease)
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:4085", source="MESH:D014328"} ! obsolete germ cell and embryonal cancer
property_value: closeMatch http://identifiers.org/snomedct/115234004
property_value: closeMatch http://identifiers.org/snomedct/134334000
property_value: closeMatch http://identifiers.org/snomedct/189855009
property_value: closeMatch http://identifiers.org/snomedct/189858006
property_value: exactMatch DOID:4085
property_value: exactMatch http://identifiers.org/mesh/D014328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041182
property_value: exactMatch NCIT:C3422

[Term]
id: MONDO:0002873
name: obsolete testicular germ cell tumor non-seminomatous
is_obsolete: true
replaced_by: MONDO:0006447

[Term]
id: MONDO:0002874
name: testicular pure germ cell tumor
def: "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." [NCIT:C39915]
synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915]
xref: DOID:4087 {source="MONDO:equivalentTo"}
xref: NCIT:C39915 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4087"}
xref: UMLS:C1514608 {source="MONDO:equivalentTo", source="NCIT:C39915", source="DOID:4087"}
is_a: MONDO:0010108 {source="DOID:4087", source="NCIT:C39915"} ! testicular germ cell tumor
property_value: exactMatch DOID:4087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514608
property_value: exactMatch NCIT:C39915

[Term]
id: MONDO:0002875
name: parasitic ectoparasitic infectious disease
def: "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." [MESH:D004478]
synonym: "ectoparasitic infestation" RELATED [MESH:D004478]
synonym: "ectoparasitism" EXACT [CSP2005:2214-2667, DOID:4110]
synonym: "infestation, ectoparasitic" RELATED [MESH:D004478]
synonym: "Infestations, ectoparasitic" RELATED [MESH:D004478]
xref: DOID:4110 {source="MONDO:equivalentTo"}
xref: MESH:D004478 {source="MONDO:equivalentTo", source="DOID:4110"}
xref: UMLS:C0013578 {source="MONDO:equivalentTo", source="DOID:4110"}
is_a: MONDO:0024610 {source="MESH:D004478"} ! parasitic skin disease
property_value: exactMatch DOID:4110
property_value: exactMatch http://identifiers.org/mesh/D004478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013578

[Term]
id: MONDO:0002876
name: cervical adenosarcoma
def: "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." [NCIT:C40229]
subset: ordo_disease {source="Orphanet:213792"}
synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279]
synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "cervical adenosarcoma" EXACT [NCIT:C40229, Orphanet:213792]
synonym: "cervical Muellerian adenosarcoma" EXACT [DOID:4111]
synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229]
synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229]
synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4111 {source="MONDO:equivalentTo"}
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213792/btnt", source="Orphanet:213792"}
xref: ICD10:C53.1 {source="ORDO:213792/btnt", source="Orphanet:213792"}
xref: ICD10:C53.8 {source="ORDO:213792/btnt", source="Orphanet:213792"}
xref: NCIT:C40229 {source="DOID:4111", source="MONDO:equivalentTo"}
xref: Orphanet:213792 {source="MONDO:equivalentTo"}
xref: SCTID:764847000 {source="MONDO:equivalentTo"}
xref: UMLS:C1516426 {source="DOID:4111", source="NCIT:C40229", source="MONDO:equivalentTo"}
xref: UMLS:CN201069 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C40229"} ! adenosarcoma
is_a: MONDO:0016277 {source="Orphanet:213792"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri
relationship: excluded_subClassOf MONDO:0002877 {source="DOID:4111"} ! cervical carcinosarcoma
property_value: exactMatch DOID:4111
property_value: exactMatch http://identifiers.org/snomedct/764847000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516426
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201069
property_value: exactMatch NCIT:C40229
property_value: exactMatch Orphanet:213792

[Term]
id: MONDO:0002877
name: cervical carcinosarcoma
def: "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." [NCIT:P378]
subset: ordo_disease {source="Orphanet:213787"}
synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278]
synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787]
synonym: "cervical malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C36097]
synonym: "cervical malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C36097]
synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [DOID:4112]
synonym: "cervical malignant mixed Mullerian tumor" EXACT [DOID:4112]
synonym: "cervical malignant Mullerian mixed tumor" EXACT [Orphanet:213787]
synonym: "cervical malignant Müllerian mixed tumor" EXACT [Orphanet:213787]
synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [DOID:4112]
synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787]
synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787]
synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4112 {source="MONDO:equivalentTo"}
xref: ICD10:C53 {source="Orphanet:213787", source="ORDO:213787/ntbt"}
xref: NCIT:C36097 {source="DOID:4112", source="MONDO:kboom-pr-0.93/0.82/0.59", source="MONDO:equivalentTo"}
xref: Orphanet:213787 {source="MONDO:equivalentTo"}
xref: SCTID:764951002 {source="MONDO:equivalentTo"}
xref: UMLS:C1332917 {source="DOID:4112", source="NCIT:C36097", source="MONDO:equivalentTo"}
xref: UMLS:C1516420 {source="DOID:4112", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201068 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006485 {source="MONDO:Redundant", source="NCIT:C36097"} ! uterine carcinosarcoma
is_a: MONDO:0016277 {source="Orphanet:213787"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518168
property_value: closeMatch NCIT:C40226
property_value: closeMatch NCIT:C40228
property_value: exactMatch DOID:4112
property_value: exactMatch http://identifiers.org/snomedct/764951002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201068
property_value: exactMatch NCIT:C36097
property_value: exactMatch Orphanet:213787

[Term]
id: MONDO:0002878
name: uterine corpus adenosarcoma
def: "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." [NCIT:C6336]
comment: Editor note: check ONCOTREE mapping
synonym: "adenosarcoma of body of uterus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the body of uterus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the uterine body" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the uterine corpus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the uterus" RELATED [GARD:0009636]
synonym: "adenosarcoma of uterine body" EXACT [NCIT:C6336]
synonym: "adenosarcoma of uterine corpus" EXACT [DOID:4113, NCIT:C6336]
synonym: "body of uterus adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C6336]
synonym: "Mullerian adenosarcoma of the uterus" RELATED [MESH:C538232]
synonym: "uterine adenosarcoma" RELATED [MESH:C538232]
synonym: "uterine body adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus Mullerian adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336]
synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336]
xref: DOID:4113 {source="MONDO:equivalentTo"}
xref: GARD:0009636 {source="MONDO:equivalentTo"}
xref: MESH:C538232 {source="MONDO:equivalentTo"}
xref: NCIT:C6336 {source="DOID:4113", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:UAS {source="MONDO:equivalentTo"}
xref: UMLS:C1336917 {source="DOID:4113", source="MONDO:equivalentTo", source="NCIT:C6336"}
is_a: MONDO:0002879 {source="DOID:4113", source="MONDO:Redundant", source="NCIT:C6336"} ! uterine body mixed cancer
is_a: MONDO:0005636 {source="DOID:4113", source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336"} ! adenosarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2103110
property_value: exactMatch DOID:4113
property_value: exactMatch http://identifiers.org/mesh/C538232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336917
property_value: exactMatch NCIT:C6336
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus xsd:anyURI {source="GARD:0009636"}

[Term]
id: MONDO:0002879
name: uterine body mixed cancer
def: "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." [NCIT:P378]
synonym: "malignant body of uterus mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant body of uterus mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant corpus uteri mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant corpus uteri mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of corpus uteri" EXACT [DOID:4114, NCIT:C6311]
synonym: "malignant mixed tumor of the body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant uterine body mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant uterine body mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C6311]
synonym: "malignant uterine corpus mixed tumor" EXACT [NCIT:C6311]
xref: DOID:4114 {source="MONDO:equivalentTo"}
xref: NCIT:C6311 {source="DOID:4114", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334628 {source="DOID:4114", source="NCIT:C6311", source="MONDO:equivalentTo"}
is_a: MONDO:0005853 {source="MONDO:Redundant", source="MONDOLEX:0002879", source="NCIT:C6311"} ! malignant mixed neoplasm
is_a: MONDO:0006003 {source="DOID:4114", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
is_a: MONDO:0016255 {source="MONDO:Redundant", source="MONDOLEX:0002879", source="NCIT:C6311"} ! uterine corpus mixed epithelial and mesenchymal neoplasm
property_value: exactMatch DOID:4114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334628
property_value: exactMatch NCIT:C6311

[Term]
id: MONDO:0002880
name: ovarian adenosarcoma
def: "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." [NCIT:C7317]
synonym: "adenosarcoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian mesodermal adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian Mullerian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian mullerian adenosarcoma" EXACT [DOID:4115, NCIT:C7317]
synonym: "ovarian Müllerian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovary adenosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4115 {source="MONDO:equivalentTo"}
xref: NCIT:C7317 {source="DOID:4115", source="MONDO:equivalentTo"}
xref: UMLS:C1335169 {source="DOID:4115", source="MONDO:equivalentTo", source="NCIT:C7317"}
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C7317"} ! adenosarcoma
is_a: MONDO:0008170 {source="DOID:4115/inferred", source="MONDO:Redundant", source="NCIT:C7317", source="NCIT:C7317/inferred"} ! ovarian cancer
relationship: excluded_subClassOf MONDO:0003792 {source="DOID:4115"} ! ovarian carcinosarcoma
property_value: exactMatch DOID:4115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335169
property_value: exactMatch NCIT:C7317

[Term]
id: MONDO:0002881
name: vaginal adenosarcoma
def: "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." [NCIT:C40277]
synonym: "adenosarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "vagina adenosarcoma" EXACT [MONDO:patterns/location]
synonym: "vaginal adenosarcoma" EXACT [NCIT:C40277]
synonym: "vaginal Mullerian adenosarcoma" EXACT [NCIT:C40277]
synonym: "vaginal Müllerian adenosarcoma" EXACT [NCIT:C40277]
xref: DOID:4117 {source="MONDO:equivalentTo"}
xref: NCIT:C40277 {source="MONDO:equivalentTo", source="DOID:4117", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1519914 {source="MONDO:equivalentTo", source="DOID:4117", source="NCIT:C40277"}
is_a: MONDO:0001402 ! vaginal cancer
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C40277"} ! adenosarcoma
relationship: excluded_subClassOf MONDO:0006488 {source="DOID:4117"} ! vaginal carcinosarcoma
property_value: exactMatch DOID:4117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519914
property_value: exactMatch NCIT:C40277

[Term]
id: MONDO:0002882
name: colon neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5697]
synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697]
synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colonic neuroendocrine neoplasm" EXACT [NCIT:C5697]
synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118, NCIT:C5697]
synonym: "neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5697]
synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697]
synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080]
xref: DOID:4118 {source="MONDO:equivalentTo"}
xref: NCIT:C5697 {source="DOID:4118", source="MONDO:equivalentTo"}
xref: Orphanet:100080 {source="MONDO:equivalentTo"}
xref: UMLS:C1333097 {source="DOID:4118", source="MONDO:equivalentTo", source="NCIT:C5697"}
is_a: MONDO:0002883 {source="DOID:4118", source="MONDO:Redundant", source="NCIT:C5697/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5697"} ! colonic neoplasm
property_value: exactMatch DOID:4118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333097
property_value: exactMatch NCIT:C5697
property_value: exactMatch Orphanet:100080

[Term]
id: MONDO:0002883
name: intestinal neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5695]
synonym: "intestinal neuroendocrine benign tumor" RELATED [DOID:4119]
synonym: "intestinal neuroendocrine neoplasm" EXACT [NCIT:C5695]
synonym: "intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "intestine neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5695]
synonym: "neuroendocrine neoplasm of the intestine" EXACT [NCIT:C5695]
synonym: "neuroendocrine tumor of intestine" EXACT [DOID:4119]
xref: DOID:4119 {source="MONDO:equivalentTo"}
xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"}
xref: UMLS:C1334231 {source="NCIT:C5695", source="MONDO:equivalentTo", source="DOID:4119"}
is_a: MONDO:0021118 {source="DOID:4119", source="MONDO:Redundant", source="NCIT:C5695", source="indirect"} ! intestinal neoplasm
is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm
property_value: exactMatch DOID:4119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334231
property_value: exactMatch NCIT:C5695

[Term]
id: MONDO:0002884
name: nail disease
def: "A disease involving the nail." [MONDO:DesignPattern]
synonym: "disease of nail" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nail" EXACT []
synonym: "disorder of nail" EXACT [MONDO:patterns/location_top]
synonym: "disorder of nail" RELATED [MONDO:patterns/location_top]
synonym: "nail disease" EXACT [MONDO:patterns/location]
synonym: "nail disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4123 {source="MONDO:equivalentTo"}
xref: ICD10:L60 {source="DOID:4123"}
xref: ICD10:L60.9 {source="DOID:4123"}
xref: ICD9:703 {source="DOID:4123"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:703.9 {source="DOID:4123", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009260 {source="DOID:4123", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:17790008 {source="DOID:4123", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C0027339 {source="DOID:4123", source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:4123", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! integumentary system disease
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156401005
property_value: closeMatch http://identifiers.org/snomedct/201127007
property_value: closeMatch http://identifiers.org/snomedct/267861009
property_value: exactMatch DOID:4123
property_value: exactMatch http://identifiers.org/mesh/D009260
property_value: exactMatch http://identifiers.org/snomedct/17790008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027339

[Term]
id: MONDO:0002885
name: erythrasma
def: "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." [MESH:D004894]
synonym: "infection due to Corynebacterium minutissimum" EXACT [DOID:4131]
xref: DOID:4131 {source="MONDO:equivalentTo"}
xref: EFO:1000696 {source="MONDO:equivalentTo"}
xref: ICD10:L08.1 {source="MONDO:equivalentTo", source="DOID:4131"}
xref: ICD9:041.85 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004894 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4131"}
xref: SCTID:264207005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0014752 {source="MONDO:equivalentTo", source="DOID:4131"}
xref: UMLS:C2364003 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002922 {source="DOID:4131"} ! pyoderma
property_value: closeMatch http://identifiers.org/snomedct/111797001
property_value: closeMatch http://identifiers.org/snomedct/154314007
property_value: closeMatch http://identifiers.org/snomedct/186393009
property_value: closeMatch http://identifiers.org/snomedct/200726000
property_value: closeMatch http://identifiers.org/snomedct/238418005
property_value: closeMatch http://identifiers.org/snomedct/266185008
property_value: exactMatch DOID:4131
property_value: exactMatch http://identifiers.org/mesh/D004894
property_value: exactMatch http://identifiers.org/snomedct/264207005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2364003

[Term]
id: MONDO:0002886
name: common bile duct disease
def: "A disease involving the common bile duct." [MONDO:DesignPattern]
synonym: "common bile duct disease" EXACT [MONDO:patterns/location]
synonym: "common bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of common bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of common bile duct" EXACT []
synonym: "disorder of common bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disorder of common bile duct" RELATED [MONDO:patterns/location_top]
xref: DOID:4137 {source="MONDO:equivalentTo"}
xref: MESH:D003137 {source="DOID:4137", source="MONDO:equivalentTo"}
xref: UMLS:C0009440 {source="MEDGEN:kboom-pr97-c98", source="DOID:4137", source="MONDO:equivalentTo"}
is_a: MONDO:0002887 {source="DOID:4137", source="MESH:D003137", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct disease
property_value: exactMatch DOID:4137
property_value: exactMatch http://identifiers.org/mesh/D003137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009440

[Term]
id: MONDO:0002887
name: bile duct disease
def: "A disease involving the bile duct." [MONDO:DesignPattern]
synonym: "bile duct disease" EXACT [MONDO:patterns/location]
synonym: "bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "bile duct disorder" EXACT [NCIT:C96716]
synonym: "disease of bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bile duct" EXACT []
synonym: "disorder of bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disorder of bile duct" RELATED [MONDO:patterns/location_top]
xref: DOID:4138 {source="MONDO:equivalentTo"}
xref: MESH:D001649 {source="DOID:4138", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C96716 {source="DOID:4138", source="MONDO:kboom-pr-0.77/0.39/0.73", source="MONDO:equivalentTo"}
xref: SCTID:118926004 {source="DOID:4138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0005395 {source="DOID:4138", source="NCIT:C96716", source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="DOID:4138", source="MESH:D001649", source="MONDO:Redundant", source="linkedlifedata"} ! biliary tract disease
property_value: closeMatch http://identifiers.org/snomedct/197455006
property_value: exactMatch DOID:4138
property_value: exactMatch http://identifiers.org/mesh/D001649
property_value: exactMatch http://identifiers.org/snomedct/118926004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005395
property_value: exactMatch NCIT:C96716

[Term]
id: MONDO:0002888
name: intraorbital meningioma
def: "A meningioma that affects the intraorbital structures." [NCIT:P378]
synonym: "intraorbital meningioma" EXACT [NCIT:C6778]
xref: DOID:4141 {source="MONDO:equivalentTo"}
xref: NCIT:C6778 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4141"}
xref: UMLS:C1334261 {source="MONDO:equivalentTo", source="NCIT:C6778", source="DOID:4141"}
is_a: MONDO:0016642 {source="MONDOLEX:0002888", source="NCIT:C6778/inferred"} ! meningioma (disease)
is_a: MONDO:0024611 {source="NCIT:C6778"} ! orbit neoplasm
relationship: excluded_subClassOf MONDO:0002889 {source="DOID:4141"} ! orbital cancer
property_value: exactMatch DOID:4141
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334261
property_value: exactMatch NCIT:C6778

[Term]
id: MONDO:0002889
name: orbital cancer
def: "A primary or metastatic malignant neoplasm involving the orbit." [NCIT:P378]
synonym: "cancer of orbit of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of orbit" EXACT [DOID:4143, ICD9CM_2006:190.1]
synonym: "malignant neoplasm of orbit of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the orbit" EXACT [NCIT:C3562]
synonym: "malignant orbit neoplasm" EXACT [NCIT:C3562]
synonym: "malignant orbit of skull neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant orbit tumor" EXACT [NCIT:C3562]
synonym: "malignant orbital neoplasm" EXACT [NCIT:C3562]
synonym: "malignant orbital tumor" EXACT [NCIT:C3562]
synonym: "malignant tumor of orbit" EXACT [NCIT:C3562]
synonym: "malignant tumor of the orbit" EXACT [NCIT:C3562]
synonym: "neoplasm of orbit proper" EXACT [DOID:4143]
synonym: "orbit cancer" EXACT [DOID:4143]
synonym: "orbit of skull cancer" EXACT [MONDO:patterns/location]
synonym: "orbital tumor" EXACT [DOID:4143, NCIT:C3290]
xref: DOID:4143 {source="MONDO:equivalentTo"}
xref: EFO:0007408 {source="MONDO:equivalentTo"}
xref: ICD10:C69.6 {source="DOID:4143"}
xref: ICD9:190.1 {source="DOID:4143"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3562 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:4143"}
xref: SCTID:127003006 {source="MONDO:equivalentTo", source="DOID:4143", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0024611 ! orbit neoplasm
property_value: closeMatch http://identifiers.org/mesh/D009918
property_value: closeMatch http://identifiers.org/snomedct/188270008
property_value: closeMatch http://identifiers.org/snomedct/363462005
property_value: closeMatch http://identifiers.org/snomedct/93932000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029185
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153626
property_value: exactMatch DOID:4143
property_value: exactMatch http://identifiers.org/snomedct/127003006
property_value: exactMatch NCIT:C3562

[Term]
id: MONDO:0002890
name: obsolete gastrointestinal adenoma
is_obsolete: true
replaced_by: MONDO:0006180

[Term]
id: MONDO:0002891
name: obsolete gastrointestinal neuroendocrine benign tumor
comment: Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT
xref: DOID:4148 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:4148
is_obsolete: true

[Term]
id: MONDO:0002892
name: skull base chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.." [NCIT:C5453]
synonym: "chordoma of skull base" EXACT [NCIT:C5453]
synonym: "chordoma of the skull base" EXACT [DOID:4151, NCIT:C5453]
synonym: "skull base chordoma" EXACT [NCIT:C5453]
xref: DOID:4151 {source="MONDO:equivalentTo"}
xref: NCIT:C5453 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4151"}
xref: UMLS:C1335975 {source="NCIT:C5453", source="MONDO:equivalentTo", source="DOID:4151"}
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0002785 {source="MONDO:Redundant", source="NCIT:C5453"} ! skull base neoplasm
is_a: MONDO:0008978 {source="DOID:4151", source="NCIT:C5453"} ! chordoma (disease)
property_value: exactMatch DOID:4151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335975
property_value: exactMatch NCIT:C5453

[Term]
id: MONDO:0002893
name: obsolete chondroid chordoma
is_obsolete: true
replaced_by: MONDO:0006145

[Term]
id: MONDO:0002894
name: spinal chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." [NCIT:P378]
synonym: "chordoma of spinal column" EXACT [NCIT:C5156]
synonym: "chordoma of spine" EXACT [DOID:4153, NCIT:C5156]
synonym: "chordoma of the spinal column" EXACT [NCIT:C5156]
synonym: "spinal chordoma" EXACT [NCIT:C5156]
synonym: "spinal Chordomas" EXACT [NCIT:C5156]
synonym: "spinal column chordoma" EXACT [NCIT:C5156]
xref: DOID:4153 {source="MONDO:equivalentTo"}
xref: EFO:1000543 {source="MONDO:equivalentTo"}
xref: NCIT:C5156 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000543", source="DOID:4153"}
xref: UMLS:C1859101 {source="NCIT:C5156", source="MONDO:equivalentTo"}
is_a: MONDO:0008978 {source="DOID:4153", source="NCIT:C5156"} ! chordoma (disease)
property_value: exactMatch DOID:4153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859101
property_value: exactMatch NCIT:C5156

[Term]
id: MONDO:0002895
name: obsolete dentinogenesis imperfecta
is_obsolete: true
replaced_by: MONDO:0018849

[Term]
id: MONDO:0002896
name: primary syphilis
def: "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks." [NCIT:C128412]
synonym: "early symptomatic syphilis" EXACT [DOID:4156]
synonym: "early syphilis, symptomatic" EXACT [DOID:4156, ICD9CM_2006:091]
synonym: "symptomatic early syphilis" EXACT [DOID:4156]
xref: COHD:433410 {source="MONDO:equivalentTo"}
xref: DOID:4156 {source="MONDO:equivalentTo"}
xref: ICD9:091 {source="DOID:4156"}
xref: MESH:C536772 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128412 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:186846005 {source="DOID:4156", source="MONDO:kboom-pr-0.96/0.85/1.38", source="MONDO:equivalentTo"}
xref: UMLS:C0153139 {source="DOID:4156", source="MONDO:equivalentTo"}
xref: UMLS:C2931317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C128412"}
is_a: MONDO:0005976 {source="DOID:4156", source="MESH:C536772", source="NCIT:C128412", source="linkedlifedata"} ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/57334003
property_value: exactMatch DOID:4156
property_value: exactMatch http://identifiers.org/mesh/C536772
property_value: exactMatch http://identifiers.org/snomedct/186846005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931317
property_value: exactMatch NCIT:C128412

[Term]
id: MONDO:0002897
name: secondary syphilis
def: "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage." [NCIT:C128413]
synonym: "secondary syphilis of viscera or bone" EXACT [DOID:4157]
xref: COHD:437787 {source="MONDO:equivalentTo"}
xref: DOID:4157 {source="MONDO:equivalentTo"}
xref: ICD9:091.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:091.9 {source="DOID:4157", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C536773 {source="DOID:4157", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128413 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:240557004 {source="DOID:4157", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0149985 {source="DOID:4157", source="MONDO:equivalentTo", source="NCIT:C128413"}
xref: UMLS:C0343676 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005976 {source="DOID:4157", source="MESH:C536773", source="NCIT:C128413", source="linkedlifedata"} ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/154382002
property_value: closeMatch http://identifiers.org/snomedct/186865002
property_value: exactMatch DOID:4157
property_value: exactMatch http://identifiers.org/mesh/C536773
property_value: exactMatch http://identifiers.org/snomedct/240557004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343676
property_value: exactMatch NCIT:C128413

[Term]
id: MONDO:0002898
name: skin cancer
def: "A malignant neoplasm involving the zone of skin" [MONDO:DesignPattern]
synonym: "CA - skin cancer" EXACT [DOID:4159]
synonym: "cancer of skin" RELATED [DOID:4159]
synonym: "cancer of zone of skin" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skin" EXACT [DOID:4159, MTH:NOCODE, NCIT:C2920]
synonym: "malignant neoplasm of the skin" EXACT [NCIT:C2920]
synonym: "malignant neoplasm of zone of skin" EXACT [MONDO:patterns/cancer]
synonym: "malignant skin neoplasm" EXACT [NCIT:C2920]
synonym: "malignant skin tumor" EXACT [NCIT:C2920]
synonym: "malignant tumor of skin" EXACT [NCIT:C2920]
synonym: "malignant tumor of the skin" EXACT [NCIT:C2920]
synonym: "malignant zone of skin neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "melanoma and non-melanoma skin cancer" EXACT [DOID:4159, NCIT:C2920]
synonym: "skin cancer" EXACT [NCIT:C2920]
synonym: "skin cancer, Including melanoma" EXACT [NCIT:C2920]
synonym: "skin cancer, NOS" RELATED EXCLUDE [NCIT:C2920]
synonym: "skin neoplasm, malignant" EXACT [NCIT:C2920]
synonym: "zone of skin cancer" EXACT [MONDO:patterns/location]
xref: COHD:4155297 {source="MONDO:equivalentTo"}
xref: DOID:4159 {source="MONDO:equivalentTo"}
xref: GARD:0010421 {source="MONDO:equivalentTo"}
xref: ICD10:C43.C44 {source="MONDO:equivalentTo"}
xref: ICD9:173.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:173.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C2920 {source="DOID:4159", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:372130007 {source="DOID:4159", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007114 {source="DOID:4159", source="MONDO:equivalentTo", source="NCIT:C2920"}
is_a: MONDO:0000653 {source="DOID:4159", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system cancer
is_a: MONDO:0002531 {source="MONDO:Redundant", source="MONDOLEX:0002898", source="NCIT:C2920", source="OWLReasoner:2017", source="linkedlifedata"} ! skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188143008
property_value: closeMatch http://identifiers.org/snomedct/190107001
property_value: closeMatch http://identifiers.org/snomedct/363511009
property_value: closeMatch http://identifiers.org/snomedct/94047004
property_value: exactMatch DOID:4159
property_value: exactMatch http://identifiers.org/snomedct/372130007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007114
property_value: exactMatch NCIT:C2920

[Term]
id: MONDO:0002899
name: differentiating neuroblastoma
def: "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." [NCIT:C42048]
synonym: "differentiating neuroblastoma" EXACT [NCIT:C42048]
xref: DOID:4160 {source="MONDO:equivalentTo"}
xref: NCIT:C42048 {source="MONDO:equivalentTo", source="DOID:4160", source="exact-label-match"}
xref: UMLS:C1511934 {source="MONDO:equivalentTo", source="DOID:4160", source="NCIT:C42048"}
is_a: MONDO:0005072 {source="DOID:4160", source="NCIT:C42048"} ! neuroblastoma
property_value: exactMatch DOID:4160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511934
property_value: exactMatch NCIT:C42048

[Term]
id: MONDO:0002900
name: cerebral neuroblastoma
def: "A neuroblastoma arising from the cerebral hemispheres." [NCIT:C4826]
synonym: "central nervous system neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral hemispheric neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral neuroblastoma, PNET" EXACT [NCIT:C4826]
synonym: "neuroblastoma of brain" EXACT [DOID:4164]
synonym: "neuroblastoma of cerebral hemispheres" EXACT [NCIT:C4826]
synonym: "neuroblastoma of cerebrum" EXACT [DOID:4164, NCIT:C4826]
synonym: "neuroblastoma of telencephalon" EXACT [MONDO:design_pattern]
synonym: "neuroblastoma of the cerebral hemisphere" EXACT [DOID:4164]
synonym: "neuroblastoma of the cerebral hemispheres" EXACT [NCIT:C4826]
synonym: "neuroblastoma of the cerebrum" EXACT [NCIT:C4826]
synonym: "telencephalon neuroblastoma" EXACT [MONDO:patterns/location]
xref: DOID:4164 {source="MONDO:equivalentTo"}
xref: NCIT:C4826 {source="MONDO:equivalentTo", source="DOID:4164"}
xref: SCTID:281560004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4164"}
xref: UMLS:C0559458 {source="NCIT:C4826", source="MONDO:equivalentTo", source="DOID:4164"}
is_a: MONDO:0002731 {source="DOID:4164", source="NCIT:C4826"} ! cerebral hemisphere cancer
is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor
is_a: MONDO:0005072 {source="DOID:4164", source="MONDO:Redundant", source="NCIT:C4826", source="linkedlifedata", source="linkedlifedata/inferred"} ! neuroblastoma
property_value: exactMatch DOID:4164
property_value: exactMatch http://identifiers.org/snomedct/281560004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559458
property_value: exactMatch NCIT:C4826

[Term]
id: MONDO:0002901
name: blood group incompatibility
comment: May be obsoleted as it represents a finding
xref: CSP:0440-3703 {source="DOID:4176"}
xref: DOID:4176 {source="MONDO:equivalentTo"}
xref: UMLS:C0005806 {source="MONDO:equivalentTo", source="DOID:4176"}
is_a: MONDO:0005570 {source="DOID:4176"} ! hematologic disease
property_value: closeMatch http://identifiers.org/mesh/D001787
property_value: exactMatch DOID:4176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005806

[Term]
id: MONDO:0002902
name: obsolete pseudohypoparathyroidism
is_obsolete: true
replaced_by: MONDO:0019992

[Term]
id: MONDO:0002903
name: articulation disorder
def: "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." [NCIT:C92564]
synonym: "articulation impairment" EXACT [DOID:4186]
synonym: "phonological disorder" EXACT [DOID:4186, MTHICD9_2006:315.39]
xref: COHD:4039744 {source="MONDO:equivalentTo"}
xref: DOID:4186 {source="MONDO:equivalentTo"}
xref: ICD9:315.39 {source="linkedlifedata"}
xref: MESH:D001184 {source="MONDO:equivalentTo", source="DOID:4186"}
xref: NCIT:C92564 {source="MONDO:kboom-pr-1.00/0.91/28.79", source="MONDO:equivalentTo"}
xref: SCTID:386701004 {source="MONDO:equivalentTo", source="DOID:4186"}
is_a: MONDO:0004730 {source="DOID:4186", source="MESH:D001184"} ! speech disorder
is_a: MONDO:0004750 {source="MESH:D001184/inferred", source="NCIT:C92564"} ! language disorder
property_value: closeMatch http://identifiers.org/snomedct/8187005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003910
property_value: exactMatch DOID:4186
property_value: exactMatch http://identifiers.org/mesh/D001184
property_value: exactMatch http://identifiers.org/snomedct/386701004
property_value: exactMatch NCIT:C92564

[Term]
id: MONDO:0002904
name: echolalia (disease)
def: "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song." [NCIT:P378]
synonym: "echolalia" EXACT [MONDO:ambiguous]
xref: DOID:4188 {source="MONDO:equivalentTo"}
xref: HP:0010529 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D004454 {source="DOID:4188", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0004730 {source="DOID:4188", source="MESH:D004454"} ! speech disorder
property_value: closeMatch http://identifiers.org/snomedct/64712007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013528
property_value: exactMatch DOID:4188
property_value: exactMatch http://identifiers.org/mesh/D004454
property_value: exactMatch NCIT:C97166

[Term]
id: MONDO:0002905
name: mutism (disease)
def: "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)" [MESH:D009155]
synonym: "mutism" EXACT [MONDO:ambiguous]
xref: DOID:4189 {source="MONDO:equivalentTo"}
xref: HP:0002300 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D009155 {source="DOID:4189", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0026884 {source="DOID:4189", source="MONDO:equivalentTo"}
is_a: MONDO:0004730 {source="DOID:4189", source="MESH:D009155"} ! speech disorder
property_value: closeMatch http://identifiers.org/snomedct/267771000
property_value: closeMatch http://identifiers.org/snomedct/88052002
property_value: exactMatch DOID:4189
property_value: exactMatch http://identifiers.org/mesh/D009155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026884

[Term]
id: MONDO:0002906
name: obsolete scleroderma
is_obsolete: true
replaced_by: MONDO:0019340

[Term]
id: MONDO:0002907
name: intracranial thrombosis
def: "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." [MESH:D020767]
synonym: "cerebral thrombosis" EXACT [DOID:4193]
xref: COHD:441874 {source="MONDO:equivalentTo"}
xref: DOID:4193 {source="MONDO:equivalentTo"}
xref: ICD9:434.0 {source="DOID:4193"}
xref: ICD9:434.00 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020767 {source="MONDO:equivalentTo", source="DOID:4193", source="MONDO:ontobio"}
xref: SCTID:71444005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0752143 {source="MONDO:equivalentTo", source="DOID:4193"}
is_a: MONDO:0000831 {source="DOID:4193", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombotic disease
is_a: MONDO:0011057 {source="DOID:4193", source="MESH:D020767/inferred", source="linkedlifedata"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/155401002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079102
property_value: exactMatch DOID:4193
property_value: exactMatch http://identifiers.org/mesh/D020767
property_value: exactMatch http://identifiers.org/snomedct/71444005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752143

[Term]
id: MONDO:0002908
name: glucose metabolism disease
def: "A metabolic disorder characterized by abnormal blood glucose levels." [NCIT:P378]
synonym: "disorder of glucose metabolism" EXACT [NCIT:C53655]
synonym: "glucose metabolism disorder" EXACT [NCIT:C53655]
xref: DOID:4194 {source="MONDO:equivalentTo"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D044882 {source="MONDO:equivalentTo", source="DOID:4194", source="MONDO:ontobio"}
xref: NCIT:C53655 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:4194"}
xref: SCTID:126877002 {source="MONDO:equivalentTo", source="DOID:4194", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1257958 {source="MONDO:equivalentTo", source="DOID:4194", source="NCIT:C53655"}
is_a: MONDO:0005066 {source="DOID:4194/inferred", source="MESH:D044882", source="MONDO:Redundant", source="NCIT:C53655/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch DOID:4194
property_value: exactMatch http://identifiers.org/mesh/D044882
property_value: exactMatch http://identifiers.org/snomedct/126877002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257958
property_value: exactMatch NCIT:C53655

[Term]
id: MONDO:0002909
name: hyperglycemia
def: "Abnormally high level of glucose in the blood." [NCIT:P378]
xref: COHD:4214376 {source="MONDO:equivalentTo"}
xref: DOID:4195 {source="MONDO:equivalentTo"}
xref: ICD10:R73.9 {source="DOID:4195"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006943 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4195"}
xref: SCTID:80394007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4195"}
xref: UMLS:C0020456 {source="MONDO:equivalentTo", source="DOID:4195"}
is_a: MONDO:0002908 {source="DOID:4195", source="MESH:D006943", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! glucose metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/144187006
property_value: closeMatch http://identifiers.org/snomedct/154719004
property_value: closeMatch http://identifiers.org/snomedct/207289007
property_value: closeMatch http://identifiers.org/snomedct/207643008
property_value: closeMatch http://identifiers.org/snomedct/237598005
property_value: closeMatch http://identifiers.org/snomedct/270004003
property_value: closeMatch http://identifiers.org/snomedct/315299009
property_value: closeMatch http://identifiers.org/snomedct/390730002
property_value: exactMatch DOID:4195
property_value: exactMatch http://identifiers.org/mesh/D006943
property_value: exactMatch http://identifiers.org/snomedct/80394007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020456
property_value: exactMatch NCIT:C26797

[Term]
id: MONDO:0002910
name: peroneal neuropathy
def: "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" [MESH:D020427]
synonym: "peroneal neuropathy" EXACT [DOID:4201, NCIT:C27596]
xref: DOID:4201 {source="MONDO:equivalentTo"}
xref: MESH:D020427 {source="DOID:4201", source="MONDO:equivalentTo"}
xref: NCIT:C27596 {source="DOID:4201", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0747533 {source="NCIT:C27596", source="DOID:4201", source="MONDO:equivalentTo"}
is_a: MONDO:0001397 {source="DOID:4201", source="MESH:D020427"} ! mononeuropathy
property_value: exactMatch DOID:4201
property_value: exactMatch http://identifiers.org/mesh/D020427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0747533
property_value: exactMatch NCIT:C27596

[Term]
id: MONDO:0002911
name: brain stem glioma
def: "A neuroglial tumor that arises from the brain stem." [NCIT:C8501]
synonym: "brain stem glioma" EXACT [NCIT:C8501]
synonym: "brain stem neuroglial neoplasm" EXACT [NCIT:C8501]
synonym: "brain stem neuroglial tumor" EXACT [NCIT:C8501]
synonym: "brainstem glioma" EXACT [NCIT:C8501]
synonym: "brainstem malignant glioma" EXACT [MONDO:patterns/location]
synonym: "brainstem neuroglial neoplasm" EXACT [NCIT:C8501]
synonym: "brainstem neuroglial tumor" EXACT [DOID:4202, NCIT:C8501]
synonym: "diffuse brainstem glioma" EXACT [NCIT:C8501]
synonym: "glioma of brain stem" EXACT [NCIT:C8501]
synonym: "glioma of brainstem" EXACT [NCIT:C8501]
synonym: "glioma of the brain stem" EXACT [NCIT:C8501]
synonym: "glioma of the brainstem" EXACT [NCIT:C8501]
synonym: "malignant glioma of brainstem" EXACT [MONDO:design_pattern]
xref: DOID:4202 {source="MONDO:equivalentTo"}
xref: NCIT:C8501 {source="DOID:4202", source="MONDO:equivalentTo"}
xref: SCTID:444545003 {source="DOID:4202", source="MONDO:equivalentTo"}
xref: UMLS:C0677865 {source="DOID:4202", source="MONDO:equivalentTo", source="NCIT:C8501"}
is_a: MONDO:0002912 {source="DOID:4202", source="MONDO:Entailed", source="MONDO:Redundant"} ! brainstem cancer
is_a: MONDO:0005499 {source="DOID:4202", source="MONDO:Redundant", source="linkedlifedata"} ! brain glioma
property_value: exactMatch DOID:4202
property_value: exactMatch http://identifiers.org/snomedct/444545003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677865
property_value: exactMatch NCIT:C8501

[Term]
id: MONDO:0002912
name: brainstem cancer
def: "A primary or metastatic malignant neoplasm that affects the brain stem." [NCIT:C3570]
subset: gard_rare {source="GARD:0008244"}
synonym: "brain stem cancer" RELATED [DOID:4203, GARD:0008244]
synonym: "brainstem cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer]
synonym: "malignant brain stem neoplasm" EXACT [NCIT:C3570]
synonym: "malignant brain stem tumor" EXACT [NCIT:C3570]
synonym: "malignant brainstem neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3570]
synonym: "malignant brainstem tumor" EXACT [NCIT:C3570]
synonym: "malignant neoplasm of brain stem" EXACT [DOID:4203, NCIT:C3570]
synonym: "malignant neoplasm of brainstem" EXACT [DOID:4203, MONDO:patterns/cancer, NCIT:C3570]
synonym: "malignant neoplasm of the brain stem" EXACT [NCIT:C3570]
synonym: "malignant neoplasm of the brainstem" EXACT [NCIT:C3570]
synonym: "malignant tumor of brain stem" EXACT [NCIT:C3570]
synonym: "malignant tumor of brainstem" EXACT [DOID:4203, NCIT:C3570]
synonym: "malignant tumor of the brain stem" EXACT [NCIT:C3570]
synonym: "malignant tumor of the brainstem" EXACT [NCIT:C3570]
synonym: "neoplasm of adult brain stem" EXACT [DOID:4203]
synonym: "neoplasm of brain stem" EXACT [DOID:4203]
synonym: "primary brain stem neoplasm" EXACT [DOID:4203]
synonym: "primary brain stem tumor" EXACT [DOID:4203]
synonym: "tumor of adult brainstem" EXACT EXCLUDE [DOID:4203]
synonym: "tumor of the brainstem" EXACT [DOID:4203]
xref: COHD:4180908 {source="MONDO:equivalentTo"}
xref: DOID:4203 {source="MONDO:equivalentTo"}
xref: GARD:0008244 {source="MONDO:equivalentTo"}
xref: ICD10:C71.7 {source="DOID:4203"}
xref: ICD9:191.7 {source="DOID:4203", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020295 {source="DOID:4203", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3570 {source="DOID:4203", source="MONDO:equivalentTo"}
xref: SCTID:363473003 {source="DOID:4203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0003107 {source="DOID:4203", source="MESH:D020295", source="NCIT:C3570"} ! infratentorial cancer
is_a: MONDO:0021228 {source="MONDO:Redundant", source="MONDOLEX:0002912", source="NCIT:C3570"} ! brainstem neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126961004
property_value: closeMatch http://identifiers.org/snomedct/154549004
property_value: closeMatch http://identifiers.org/snomedct/188299003
property_value: closeMatch http://identifiers.org/snomedct/93726004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153641
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677866
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751886
property_value: closeMatch NCIT:C4975
property_value: exactMatch DOID:4203
property_value: exactMatch http://identifiers.org/mesh/D020295
property_value: exactMatch http://identifiers.org/snomedct/363473003
property_value: exactMatch NCIT:C3570
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer xsd:anyURI {source="GARD:0008244"}

[Term]
id: MONDO:0002913
name: cerebellar neoplasm
def: "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" [NCIT:C2935]
synonym: "cerebellar cancer" EXACT EXCLUDE [DOID:4205]
synonym: "cerebellar neoplasm" EXACT [NCIT:C2935]
synonym: "cerebellar tumor" EXACT [NCIT:C2935]
synonym: "cerebellum cancer" RELATED [DOID:4205]
synonym: "cerebellum neoplasm" EXACT []
synonym: "cerebellum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cerebellum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "malignant tumor of cerebellum" EXACT [DOID:4205, NCIT:C3569]
synonym: "neoplasm of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935]
synonym: "neoplasm of the cerebellum" EXACT [NCIT:C2935]
synonym: "tumor of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935]
synonym: "tumor of the cerebellum" EXACT [NCIT:C2935]
xref: DOID:4205 {source="MONDO:equivalentTo"}
xref: ICD10:C71.6 {source="DOID:4205"}
xref: ICD9:191.6 {source="DOID:4205", source="MONDO:superClassOf"}
xref: MESH:D002528 {source="MONDO:equivalentTo", source="DOID:4205", source="MONDO:ontobio"}
xref: NCIT:C2935 {source="MONDO:equivalentTo", source="DOID:4205"}
xref: SCTID:126960003 {source="MONDO:equivalentTo", source="DOID:4205", source="MONDO:kboom-pr-1.00/0.91/13.81"}
xref: UMLS:C0007762 {source="NCIT:C2935", source="MONDO:equivalentTo", source="DOID:4205"}
is_a: MONDO:0002427 {source="MESH:D002528", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! cerebellar disease
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C2935/inferred"} ! brain neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154548007
property_value: closeMatch http://identifiers.org/snomedct/363472008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153640
property_value: exactMatch DOID:4205
property_value: exactMatch http://identifiers.org/mesh/D002528
property_value: exactMatch http://identifiers.org/snomedct/126960003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007762
property_value: exactMatch NCIT:C2935

[Term]
id: MONDO:0002914
name: childhood brain stem neoplasm
def: "A neoplasm that affects the brain stem and occurs during childhood." [NCIT:C5969]
synonym: "brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "brainstem cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "childhood brain stem tumor" EXACT [NCIT:C5969]
synonym: "childhood brainstem cancer" EXACT [MONDO:design_pattern]
synonym: "childhood brainstem neoplasm" EXACT [NCIT:C5969]
synonym: "childhood brainstem tumor" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of brain stem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of brainstem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of the brain stem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of the brainstem" EXACT [NCIT:C5969]
synonym: "childhood tumor of brain stem" EXACT [NCIT:C5969]
synonym: "childhood tumor of brainstem" EXACT [NCIT:C5969]
synonym: "childhood tumor of the brain stem" EXACT [NCIT:C5969]
synonym: "childhood tumor of the brainstem" EXACT [NCIT:C5969]
synonym: "pediatric brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "pediatric brain stem tumor" EXACT [NCIT:C5969]
synonym: "pediatric brainstem cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric brainstem cancer" RELATED [MONDO:patterns/childhood]
synonym: "pediatric brainstem neoplasm" EXACT [NCIT:C5969]
synonym: "pediatric brainstem tumor" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of brain stem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of brainstem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of the brain stem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of the brainstem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of brain stem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of brainstem" EXACT [DOID:4206, NCIT:C5969]
synonym: "pediatric tumor of the brain stem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of the brainstem" EXACT [NCIT:C5969]
xref: DOID:4206 {source="MONDO:equivalentTo"}
xref: EFO:1001767 {source="MONDO:equivalentTo"}
xref: NCIT:C5969 {source="DOID:4206", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332951 {source="DOID:4206", source="MONDO:equivalentTo", source="NCIT:C5969"}
is_a: MONDO:0002912 {source="DOID:4206", source="MONDO:Redundant", source="MONDOLEX:0002914"} ! brainstem cancer
is_a: MONDO:0002915 {source="NCIT:C5969"} ! childhood infratentorial neoplasm
is_a: MONDO:0006517 ! childhood malignant neoplasm
property_value: exactMatch DOID:4206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332951
property_value: exactMatch NCIT:C5969

[Term]
id: MONDO:0002915
name: childhood infratentorial neoplasm
def: "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." [NCIT:C5802]
synonym: "childhood infratentorial neoplasm" EXACT [NCIT:C5802]
synonym: "childhood infratentorial neoplasms" EXACT [NCIT:C5802]
synonym: "childhood infratentorial tumor" EXACT [NCIT:C5802]
synonym: "childhood infratentorial tumors" EXACT [NCIT:C5802]
synonym: "infratentorial neoplasm of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric infratentorial neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5802]
synonym: "pediatric infratentorial neoplasm" RELATED [MONDO:patterns/childhood]
synonym: "pediatric infratentorial tumor" EXACT [DOID:4207, NCIT:C5802]
xref: DOID:4207 {source="MONDO:equivalentTo"}
xref: NCIT:C5802 {source="MONDO:equivalentTo", source="DOID:4207", source="exact-label-match"}
xref: UMLS:C1332973 {source="MONDO:equivalentTo", source="DOID:4207", source="NCIT:C5802"}
is_a: MONDO:0021079 ! childhood neoplasm
is_a: MONDO:0037736 ! infratentorial neoplasm
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:4207"} ! brainstem cancer
property_value: exactMatch DOID:4207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332973
property_value: exactMatch NCIT:C5802

[Term]
id: MONDO:0002916
name: brainstem intraparenchymal clear cell meningioma
def: "A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:P378]
synonym: "brain stem intraparenchymal clear cell meningioma" EXACT [NCIT:C5295]
synonym: "intraparenchymal clear cell meningioma of brainstem" EXACT [NCIT:C5295]
synonym: "intraparenchymal clear cell meningioma of the brainstem" EXACT [DOID:4209, NCIT:C5295]
xref: DOID:4209 {source="MONDO:equivalentTo"}
xref: NCIT:C5295 {source="MONDO:equivalentTo", source="DOID:4209", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332612 {source="NCIT:C5295", source="MONDO:equivalentTo", source="DOID:4209"}
is_a: MONDO:0002918 {source="DOID:4209", source="MONDOLEX:0002916", source="NCIT:C5295"} ! clear cell meningioma
property_value: exactMatch DOID:4209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332612
property_value: exactMatch NCIT:C5295

[Term]
id: MONDO:0002917
name: disease of pilosebaceous unit
def: "A disease that involves the pilosebaceous unit." [MONDO:patterns/location]
synonym: "disease of pilosebaceous unit" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pilosebaceous unit" EXACT []
synonym: "disorder of pilosebaceous unit" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pilosebaceous unit" RELATED [MONDO:patterns/location_top]
synonym: "hair and hair follicle diseases" EXACT [MONDO:DesignPattern]
synonym: "hair disease" NARROW [MESH:D006201]
synonym: "hair disorder" EXACT [NCIT:C34656]
synonym: "hair/hair follicle diseases" EXACT [MONDO:DesignPattern]
synonym: "pilosebaceous unit disease" EXACT [MONDO:patterns/location]
synonym: "pilosebaceous unit disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:135033 {source="MONDO:equivalentTo"}
xref: DOID:421 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:704.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006201 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:421"}
xref: NCIT:C34656 {source="MONDO:equivalentTo", source="DOID:421"}
xref: SCTID:201128002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018500 {source="MONDO:equivalentTo", source="NCIT:C34656", source="DOID:421"}
xref: UMLS:C0554472 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:421", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! integumentary system disease
property_value: closeMatch http://identifiers.org/snomedct/156407009
property_value: closeMatch http://identifiers.org/snomedct/267862002
property_value: closeMatch http://identifiers.org/snomedct/279425004
property_value: exactMatch DOID:421
property_value: exactMatch http://identifiers.org/mesh/D006201
property_value: exactMatch http://identifiers.org/snomedct/201128002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0554472
property_value: exactMatch NCIT:C34656

[Term]
id: MONDO:0002918
name: clear cell meningioma
def: "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:C4722]
synonym: "CCM" RELATED [ONCOTREE:CCM]
synonym: "clear cell meningioma" EXACT [DOID:4210]
synonym: "clear cell meningioma (morphologic abnormality)" EXACT [DOID:4210]
xref: DOID:4210 {source="MONDO:equivalentTo"}
xref: EFO:1000180 {source="MONDO:equivalentTo"}
xref: ICDO:9538/1 {source="NCIT:C4722"}
xref: NCIT:C4722 {source="DOID:4210", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CCM {source="MONDO:equivalentTo"}
xref: UMLS:C0431121 {source="DOID:4210", source="MONDO:equivalentTo", source="NCIT:C4722"}
is_a: MONDO:0016642 {source="DOID:4210", source="EFO:1000180", source="MONDOLEX:0002918", source="NCIT:C4722/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/134213009
property_value: closeMatch http://identifiers.org/snomedct/57606003
property_value: exactMatch DOID:4210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431121
property_value: exactMatch NCIT:C4722

[Term]
id: MONDO:0002919
name: posterior cranial fossa meningioma
def: "A meningioma that affects the posterior cranial fossa." [NCIT:P378]
synonym: "meningioma (disease) of posterior cranial fossa" EXACT []
synonym: "meningioma of posterior cranial fossa" EXACT [NCIT:C6775]
synonym: "meningioma of the posterior cranial fossa" EXACT [DOID:4211, NCIT:C6775]
synonym: "posterior cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4211 {source="MONDO:equivalentTo"}
xref: NCIT:C6775 {source="DOID:4211", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335448 {source="DOID:4211", source="MONDO:equivalentTo", source="NCIT:C6775"}
is_a: MONDO:0016642 {source="DOID:4211", source="MONDO:Redundant", source="MONDOLEX:0002919", source="NCIT:C6775/inferred"} ! meningioma (disease)
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:4211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335448
property_value: exactMatch NCIT:C6775

[Term]
id: MONDO:0002920
name: malignant ovarian Brenner tumor
def: "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." [NCIT:C4270]
synonym: "malignant Brenner tumor of ovary" EXACT [NCIT:C4270]
synonym: "malignant Brenner tumor of the ovary" EXACT [NCIT:C4270]
synonym: "malignant ovarian Brenner tumor" EXACT [NCIT:C4270]
synonym: "ovarian Brenner tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:4217 {source="MONDO:equivalentTo"}
xref: EFO:1000357 {source="MONDO:equivalentTo"}
xref: ICDO:9000/3 {source="NCIT:C4270"}
xref: NCIT:C4270 {source="DOID:4217", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334495 {source="DOID:4217", source="MONDO:equivalentTo", source="NCIT:C4270"}
is_a: MONDO:0002370 {source="MONDO:Redundant", source="MONDOLEX:0002920", source="NCIT:C4270"} ! ovarian Brenner tumor
is_a: MONDO:0018364 ! malignant epithelial tumor of ovary
property_value: closeMatch http://identifiers.org/snomedct/42194009
property_value: exactMatch DOID:4217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334495
property_value: exactMatch NCIT:C4270

[Term]
id: MONDO:0002921
name: congenital structural myopathy
def: "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." [NCIT:P378]
synonym: "centronuclear myopathy" EXACT [NCIT:C84648]
xref: DOID:422 {source="MONDO:equivalentTo"}
xref: MESH:D020914 {source="MONDO:equivalentTo", source="DOID:422"}
xref: NCIT:C84648 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.20", source="DOID:422"}
xref: UMLS:C0752282 {source="NCIT:C84648", source="MONDO:equivalentTo", source="DOID:422"}
is_a: MONDO:0005336 {source="DOID:422", source="NCIT:C84648"} ! myopathy
property_value: exactMatch DOID:422
property_value: exactMatch http://identifiers.org/mesh/D020914
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752282
property_value: exactMatch NCIT:C84648

[Term]
id: MONDO:0002922
name: pyoderma
def: "Any skin disease that is pyegenic." [https://en.wikipedia.org/wiki/Pyoderma]
xref: COHD:133547 {source="MONDO:equivalentTo"}
xref: DOID:4223 {source="MONDO:equivalentTo"}
xref: ICD10:L08.0 {source="DOID:4223", source="MONDO:equivalentTo"}
xref: ICD9:686.0 {source="DOID:4223", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:686.00 {source="DOID:4223", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:686.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011711 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70759006 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0034212 {source="DOID:4223", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:4223/inferred", source="MESH:D011711", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! skin disease
relationship: excluded_subClassOf MONDO:0002406 {source="DOID:4223"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156323008
property_value: closeMatch http://identifiers.org/snomedct/200719000
property_value: closeMatch http://identifiers.org/snomedct/267838007
property_value: exactMatch DOID:4223
property_value: exactMatch http://identifiers.org/mesh/D011711
property_value: exactMatch http://identifiers.org/snomedct/70759006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034212

[Term]
id: MONDO:0002923
name: uterine corpus endometrial stromal sarcoma
def: "A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma." [NCIT:C40219]
synonym: "body of uterus endometrial stromal sarcoma" EXACT [MONDO:patterns/location]
synonym: "body of uterus endometrioid stromal sarcoma" EXACT [MONDO:patterns/location]
synonym: "endometrioid stromal sarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus endometrial stromal sarcoma" EXACT [NCIT:C40219]
synonym: "uterine corpus endometrial stromal tumor" EXACT [DOID:4227]
synonym: "uterine corpus ess" EXACT [NCIT:C40219]
xref: DOID:4227 {source="MONDO:equivalentTo"}
xref: NCIT:C40219 {source="MONDO:equivalentTo", source="DOID:4227", source="exact-label-match"}
xref: UMLS:C1519849 {source="NCIT:C40219", source="MONDO:equivalentTo", source="DOID:4227"}
is_a: MONDO:0005210 {source="DOID:4227", source="MONDO:Redundant", source="NCIT:C40219"} ! uterine corpus sarcoma
is_a: MONDO:0006745 {source="DOID:4227", source="MONDO:Redundant", source="MONDOLEX:0002923", source="NCIT:C40219"} ! endometrioid stromal sarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1519848
property_value: closeMatch NCIT:C40217
property_value: exactMatch DOID:4227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519849
property_value: exactMatch NCIT:C40219

[Term]
id: MONDO:0002924
name: smooth muscle cancer
def: "A malignant neoplasm arising from smooth muscle." [NCIT:C6511]
synonym: "cancer of smooth muscle" EXACT [NCIT:C6511]
synonym: "cancer of the smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant neoplasm of smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant neoplasm of the smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant smooth muscle neoplasm" EXACT [NCIT:C6511]
synonym: "malignant smooth muscle tumor" EXACT [NCIT:C6511]
synonym: "malignant tumor of smooth muscle" EXACT [DOID:4230, NCIT:C6511]
synonym: "malignant tumor of the smooth muscle" EXACT [NCIT:C6511]
synonym: "smooth muscle cancer" EXACT [NCIT:C6511]
xref: DOID:4230 {source="MONDO:equivalentTo"}
xref: NCIT:C6511 {source="MONDO:equivalentTo", source="DOID:4230"}
xref: UMLS:C1334620 {source="MONDO:equivalentTo", source="NCIT:C6511", source="DOID:4230"}
is_a: MONDO:0005864 {source="DOID:4230", source="MONDO:Redundant", source="NCIT:C6511"} ! muscle cancer
is_a: MONDO:0006975 {source="MONDO:Redundant", source="MONDOLEX:0002924", source="NCIT:C6511"} ! smooth muscle tumor
property_value: exactMatch DOID:4230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334620
property_value: exactMatch NCIT:C6511

[Term]
id: MONDO:0002925
name: obsolete extraosseous Ewing's sarcoma
is_obsolete: true
replaced_by: MONDO:0018270

[Term]
id: MONDO:0002926
name: clear cell sarcoma
def: "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." [NCIT:P378]
synonym: "adult soft part clear cell sarcoma" EXACT [DOID:4233]
synonym: "chordoid sarcoma" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma (morphologic abnormality)" EXACT [DOID:4233]
synonym: "clear cell sarcoma - not kidney" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma of soft parts" EXACT [DOID:4233, NCIT:C3745]
synonym: "clear cell sarcoma of soft tissue" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)" EXACT [NCIT:C3745]
synonym: "malignant melanoma of soft parts" RELATED [DOID:4233]
synonym: "malignant melanoma of soft tissues" EXACT [DOID:4233]
synonym: "malignant melanoma of the soft parts" EXACT [NCIT:C3745]
synonym: "melanoma, malignant, of soft parts" EXACT [DOID:4233]
xref: DOID:4233 {source="MONDO:equivalentTo"}
xref: EFO:0008498 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9044/3 {source="NCIT:C3745"}
xref: MESH:D018227 {source="DOID:4233", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3745 {source="DOID:4233", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:CCS {source="MONDO:equivalentTo"}
xref: SCTID:402561003 {source="DOID:4233", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0206651 {source="DOID:4233", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3745"}
is_a: MONDO:0018078 {source="EFO:0008498", source="MONDOLEX:0002926", source="NCIT:C3745"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/12622007
property_value: closeMatch http://identifiers.org/snomedct/271944004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332198
property_value: closeMatch NCIT:C27370
property_value: exactMatch DOID:4233
property_value: exactMatch http://identifiers.org/mesh/D018227
property_value: exactMatch http://identifiers.org/snomedct/402561003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206651
property_value: exactMatch NCIT:C3745

[Term]
id: MONDO:0002927
name: spindle cell sarcoma
def: "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." [NCIT:C27005]
synonym: "spindle cell sarcoma" EXACT [NCIT:C27005]
xref: DOID:4235 {source="MONDO:equivalentTo"}
xref: ICDO:8801/3 {source="NCIT:C27005"}
xref: NCIT:C27005 {source="DOID:4235", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0205945 {source="DOID:4235", source="MONDO:equivalentTo", source="NCIT:C27005"}
is_a: MONDO:0005089 {source="DOID:4235", source="NCIT:C27005"} ! sarcoma
is_a: MONDO:0020663 ! malignant spindle cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/9801004
property_value: exactMatch DOID:4235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205945
property_value: exactMatch NCIT:C27005

[Term]
id: MONDO:0002928
name: carcinosarcoma
def: "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." [NCIT:C34448]
synonym: "carcinosarcoma" EXACT [NCIT:C34448]
synonym: "carcinosarcoma, malignant" EXACT [NCIT:C34448]
synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:4236]
synonym: "malignant mixed Mullerian tumor" EXACT [DOID:4236]
synonym: "mesodermal mixed tumor" EXACT [DOID:4236]
synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [DOID:4236]
synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236, NCIT:C3730]
synonym: "mixed Mullerian tumor" RELATED [GARD:0006966]
synonym: "mixed tumor, Mullerian" RELATED [GARD:0006966]
synonym: "MMMT" EXACT [DOID:4236, NCIT:C8975]
synonym: "mullerian mixed tumor" EXACT [DOID:4236]
synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [DOID:4236]
xref: DOID:4236 {source="MONDO:equivalentTo"}
xref: GARD:0006966 {source="MONDO:equivalentTo"}
xref: ICDO:8980/3 {source="NCIT:C34448"}
xref: MESH:D002296 {source="DOID:4236", source="MONDO:equivalentTo"}
xref: NCIT:C34448 {source="MONDO:equivalentTo"}
xref: UMLS:C0007140 {source="DOID:4236", source="MONDO:equivalentTo", source="NCIT:C34448"}
xref: UMLS:C0206627 {source="MEDGEN:kboom-pr98-c99", source="DOID:4236", source="MONDO:equivalentTo"}
xref: UMLS:C1334603 {source="MEDGEN:kboom-pr98-c99", source="DOID:4236", source="MONDO:equivalentTo"}
is_a: MONDO:0005853 {source="DOID:4236", source="MONDOLEX:0002928", source="NCIT:C34448"} ! malignant mixed neoplasm
property_value: closeMatch http://identifiers.org/mesh/D018199
property_value: closeMatch http://identifiers.org/mesh/D018200
property_value: closeMatch http://identifiers.org/snomedct/112684005
property_value: closeMatch http://identifiers.org/snomedct/189808004
property_value: closeMatch http://identifiers.org/snomedct/63264007
property_value: closeMatch http://identifiers.org/snomedct/84427001
property_value: exactMatch DOID:4236
property_value: exactMatch http://identifiers.org/mesh/D002296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334603
property_value: exactMatch NCIT:C34448

[Term]
id: MONDO:0002929
name: pulmonary immaturity
synonym: "primary atelectasis of newborn" EXACT [DOID:424, ICD9CM_2006:770.4]
synonym: "primary atelectasis, in perinatal period" EXACT [DOID:424]
xref: COHD:258554 {source="MONDO:equivalentTo"}
xref: DOID:424 {source="MONDO:equivalentTo"}
xref: ICD10:P28.0 {source="DOID:424"}
xref: ICD9:770.4 {source="DOID:424", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:42908004 {source="DOID:424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005275 {source="DOID:424", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: closeMatch http://identifiers.org/snomedct/123275009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270163
property_value: exactMatch DOID:424
property_value: exactMatch http://identifiers.org/snomedct/42908004

[Term]
id: MONDO:0002930
name: kidney sarcoma
def: "A sarcoma involving a kidney." [MONDO:patterns/sarcoma]
synonym: "kidney sarcoma" EXACT [MONDO:patterns/location, NCIT:C4525]
synonym: "renal sarcoma" EXACT [DOID:4242, NCIT:C4525]
synonym: "sarcoma of kidney" EXACT [MONDO:patterns/sarcoma, NCIT:C4525]
synonym: "sarcoma of the kidney" EXACT [NCIT:C4525]
xref: DOID:4242 {source="MONDO:equivalentTo"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4525 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4242"}
xref: SCTID:254918001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.06", source="DOID:4242"}
xref: UMLS:C0346251 {source="MONDO:equivalentTo", source="NCIT:C4525", source="DOID:4242"}
is_a: MONDO:0002367 {source="DOID:4242", source="MONDO:Redundant", source="NCIT:C4525"} ! kidney cancer
is_a: MONDO:0018078 {source="NCIT:C4525"} ! soft tissue sarcoma
property_value: exactMatch DOID:4242
property_value: exactMatch http://identifiers.org/snomedct/254918001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346251
property_value: exactMatch NCIT:C4525

[Term]
id: MONDO:0002931
name: conjunctivochalasis
xref: COHD:375817 {source="MONDO:equivalentTo"}
xref: DOID:4250 {source="MONDO:equivalentTo"}
xref: ICD10:H11.82 {source="DOID:4250"}
xref: ICD9:372.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:4250"}
xref: SCTID:408663001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4250"}
xref: UMLS:C0878693 {source="MONDO:equivalentTo", source="DOID:4250"}
is_a: MONDO:0006170 {source="DOID:4250", source="linkedlifedata"} ! conjunctival disorder
property_value: exactMatch DOID:4250
property_value: exactMatch http://identifiers.org/snomedct/408663001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878693

[Term]
id: MONDO:0002932
name: obsolete conjunctival disease
is_obsolete: true
replaced_by: MONDO:0006170

[Term]
id: MONDO:0002933
name: osteosclerosis
def: "Abnormally high bone density." [NCIT:C41236]
xref: DOID:4254 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.2 {source="DOID:4254"}
xref: MESH:D010026 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C41236 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:49347007 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.28"}
xref: UMLS:C0029464 {source="DOID:4254", source="MONDO:equivalentTo"}
is_a: MONDO:0000833 {source="DOID:4254"} ! bone remodeling disease
property_value: exactMatch DOID:4254
property_value: exactMatch http://identifiers.org/mesh/D010026
property_value: exactMatch http://identifiers.org/snomedct/49347007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029464
property_value: exactMatch NCIT:C41236

[Term]
id: MONDO:0002934
name: intravascular angioleiomyoma
def: "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." [NCIT:C5355]
synonym: "intravascular angioleiomyoma" EXACT [NCIT:C5355]
synonym: "intravascular angiomyoma" EXACT [NCIT:C5355]
xref: DOID:4266 {source="MONDO:equivalentTo"}
xref: NCIT:C5355 {source="DOID:4266", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334267 {source="DOID:4266", source="MONDO:equivalentTo", source="NCIT:C5355"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0006646 {source="DOID:4266", source="NCIT:C5355"} ! angioleiomyoma
is_a: MONDO:0024296 ! vascular neoplasm
property_value: exactMatch DOID:4266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334267
property_value: exactMatch NCIT:C5355

[Term]
id: MONDO:0002935
name: penis basal cell carcinoma
def: "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." [NCIT:C39961]
synonym: "basal cell carcinoma of the penis" EXACT [DOID:4277, NCIT:C39961]
synonym: "penile basal cell cancer" EXACT [NCIT:C39961]
synonym: "penile basal cell carcinoma" EXACT [NCIT:C39961]
synonym: "penis skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of penis" EXACT [MONDO:design_pattern]
synonym: "skin of penis skin basal cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4277 {source="MONDO:equivalentTo"}
xref: NCIT:C39961 {source="DOID:4277", source="MONDO:equivalentTo"}
xref: UMLS:C1518949 {source="DOID:4277", source="NCIT:C39961", source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DOID:4277", source="MONDO:Redundant", source="MONDOLEX:0002935", source="NCIT:C39961"} ! skin basal cell carcinoma
is_a: MONDO:0006360 {source="DOID:4277", source="MONDO:Redundant", source="MONDOLEX:0002935", source="NCIT:C39961"} ! penile carcinoma
property_value: exactMatch DOID:4277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518949
property_value: exactMatch NCIT:C39961

[Term]
id: MONDO:0002936
name: scrotum basal cell carcinoma
def: "A scrotal carcinoma that involves the basal cell." [MONDO:patterns/location]
synonym: "basal cell carcinoma of scrotum" EXACT [DOID:4278, NCIT:C6386]
synonym: "basal cell carcinoma of the scrotum" RELATED [DOID:4278]
synonym: "basal cell scrotal carcinoma" EXACT [MONDO:patterns/location]
synonym: "scrotal basal cell carcinoma" EXACT [NCIT:C6386]
synonym: "scrotum skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of scrotum" EXACT [MONDO:design_pattern]
xref: DOID:4278 {source="MONDO:equivalentTo"}
xref: NCIT:C6386 {source="DesignPattern", source="DOID:4278", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335934 {source="NCIT:C6386", source="DOID:4278", source="MONDO:equivalentTo"}
is_a: MONDO:0002650 {source="DOID:4278", source="MONDO:Redundant", source="MONDOLEX:0002936", source="NCIT:C6386"} ! scrotal carcinoma
is_a: MONDO:0005341 {source="MONDO:Redundant", source="MONDOLEX:0002936", source="NCIT:C6386"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335934
property_value: exactMatch NCIT:C6386

[Term]
id: MONDO:0002937
name: nodular basal cell carcinoma
def: "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." [NCIT:P378]
synonym: "basal cell carcinoma, nodular" EXACT [DOID:4280]
synonym: "basal cell carcinoma, nodular (morphologic abnormality)" EXACT [DOID:4280]
synonym: "circumscribed solid basal cell carcinoma" EXACT [DOID:4280]
synonym: "Nodulo-ulcerative basal cell carcinoma" EXACT [NCIT:C5568]
synonym: "Rodent Ulcer" EXACT [NCIT:C5568]
synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [DOID:4280]
synonym: "skin solid (nodular) basal cell carcinoma" EXACT [DOID:4280, NCIT:C5616]
xref: DOID:4280 {source="MONDO:equivalentTo"}
xref: NCIT:C5568 {source="MONDO:kboom-pr-0.89/0.76/0.25", source="MONDO:equivalentTo"}
xref: SCTID:403910009 {source="MONDO:equivalentTo", source="DOID:4280", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1304300 {source="MONDO:equivalentTo", source="DOID:4280"}
is_a: MONDO:0005341 {source="DOID:4280", source="MONDOLEX:0002937", source="NCIT:C5568/inferred", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128636006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0862887
property_value: closeMatch NCIT:C62282
property_value: exactMatch DOID:4280
property_value: exactMatch http://identifiers.org/snomedct/403910009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304300
property_value: exactMatch NCIT:C5568

[Term]
id: MONDO:0002938
name: metatypical basal cell carcinoma
def: "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." [NCIT:C66903]
synonym: "basosquamous carcinoma of skin" EXACT [DOID:4281]
synonym: "skin metatypical basal cell carcinoma" EXACT [DOID:4281]
synonym: "skin metatypical carcinoma" EXACT [DOID:4281, NCIT:C2922]
xref: DOID:4281 {source="MONDO:equivalentTo"}
xref: ICDO:8095/3 {source="NCIT:C66903"}
xref: NCIT:C66903 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254702000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005341 {source="DOID:4281", source="MONDOLEX:0002938", source="NCIT:C66903", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1883040
property_value: exactMatch DOID:4281
property_value: exactMatch http://identifiers.org/snomedct/254702000
property_value: exactMatch NCIT:C66903

[Term]
id: MONDO:0002939
name: skin pigmented basal cell carcinoma
def: "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002." [NCIT:P378]
synonym: "pigmented basal cell carcinoma" EXACT [DOID:4282, NCIT:C9359]
synonym: "skin pigmented basal cell carcinoma" EXACT [NCIT:C9359]
xref: DOID:4282 {source="MONDO:equivalentTo"}
xref: NCIT:C9359 {source="MONDO:equivalentTo"}
xref: SCTID:403909004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1368275 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9359"}
is_a: MONDO:0005341 {source="DOID:4282", source="MONDOLEX:0002939", source="NCIT:C9359", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4282
property_value: exactMatch http://identifiers.org/snomedct/403909004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368275
property_value: exactMatch NCIT:C9359

[Term]
id: MONDO:0002940
name: anal margin basal cell carcinoma
def: "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare." [NCIT:C7473]
synonym: "anal margin basal cell carcinoma" EXACT [NCIT:C7473]
synonym: "basal cell carcinoma of anal margin" EXACT [DOID:4283, NCIT:C7473]
synonym: "basal cell carcinoma of perianal skin" EXACT [DOID:4283, NCIT:C7473]
synonym: "basal cell carcinoma of the anal margin" EXACT [NCIT:C7473]
synonym: "basal cell carcinoma of the perianal skin" EXACT [NCIT:C7473]
synonym: "perianal skin basal cell carcinoma" EXACT [NCIT:C7473]
synonym: "perianal skin skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of perianal skin" EXACT [MONDO:design_pattern]
xref: DOID:4283 {source="MONDO:equivalentTo"}
xref: ICD10:C44.510 {source="DOID:4283"}
xref: NCIT:C7473 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4283"}
xref: UMLS:C1332269 {source="NCIT:C7473", source="MONDO:equivalentTo", source="DOID:4283"}
is_a: MONDO:0002941 {source="DOID:4283", source="MONDO:Redundant", source="MONDOLEX:0002940", source="NCIT:C7473"} ! anal margin carcinoma
is_a: MONDO:0005341 {source="DOID:4283", source="MONDO:Redundant", source="MONDOLEX:0002940", source="NCIT:C7473"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332269
property_value: exactMatch NCIT:C7473

[Term]
id: MONDO:0002941
name: anal margin carcinoma
def: "A carcinoma that arises from epithelial cells of the perianal skin" [MONDO:DesignPattern]
synonym: "anal margin cancer" EXACT [NCIT:C7472]
synonym: "anal margin carcinoma" EXACT [NCIT:C7472]
synonym: "carcinoma of anal margin" EXACT [DOID:4284, NCIT:C7472]
synonym: "carcinoma of perianal skin" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the anal margin" EXACT [NCIT:C7472]
synonym: "perianal skin carcinoma" EXACT [DOID:4284, MONDO:patterns/location, NCIT:C7472]
xref: DOID:4284 {source="MONDO:equivalentTo"}
xref: NCIT:C7472 {source="MONDO:equivalentTo", source="DOID:4284", source="exact-label-match"}
xref: UMLS:C0349534 {source="NCIT:C7472", source="MONDO:equivalentTo", source="DOID:4284"}
is_a: MONDO:0002656 {source="DOID:4284", source="MONDO:Redundant", source="MONDOLEX:0002941", source="NCIT:C7472"} ! skin carcinoma
is_a: MONDO:0003199 {source="DOID:4284", source="NCIT:C7472"} ! anal carcinoma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch DOID:4284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349534
property_value: exactMatch NCIT:C7472

[Term]
id: MONDO:0002942
name: sebaceous basal cell carcinoma
synonym: "skin basosebaceous basal cell carcinoma" EXACT [DOID:4286]
xref: DOID:4286 {source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DOID:4286", source="MONDOLEX:0002942"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4286

[Term]
id: MONDO:0002943
name: external ear basal cell carcinoma
def: "A basal cell carcinoma that arises from the skin of the external ear." [NCIT:C6082]
synonym: "basal cell carcinoma of external Ear" EXACT [NCIT:C6082]
synonym: "basal cell carcinoma of external ear" RELATED [DOID:4287]
synonym: "basal cell carcinoma of the external Ear" EXACT [NCIT:C6082]
synonym: "basal cell carcinoma of the external ear" EXACT [DOID:4287, NCIT:C6082]
synonym: "basal cell external ear carcinoma" EXACT [MONDO:patterns/location]
synonym: "external Ear basal cell carcinoma" EXACT [NCIT:C6082]
synonym: "external ear skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of external ear" EXACT [MONDO:design_pattern]
xref: DOID:4287 {source="MONDO:equivalentTo"}
xref: NCIT:C6082 {source="DesignPattern", source="DOID:4287", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333491 {source="DOID:4287", source="MONDO:equivalentTo", source="NCIT:C6082"}
is_a: MONDO:0002944 {source="DOID:4287", source="MONDO:Redundant", source="NCIT:C6082"} ! external ear carcinoma
is_a: MONDO:0005341 {source="MONDO:Redundant", source="MONDOLEX:0002943", source="NCIT:C6082"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333491
property_value: exactMatch NCIT:C6082

[Term]
id: MONDO:0002944
name: external ear carcinoma
def: "A carcinoma that arises from epithelial cells of the external ear" [MONDO:DesignPattern]
synonym: "carcinoma of external Ear" EXACT [NCIT:C6081]
synonym: "carcinoma of external ear" EXACT [DOID:4288, MONDO:patterns/carcinoma]
synonym: "carcinoma of the external Ear" EXACT [NCIT:C6081]
synonym: "carcinoma of the external ear" EXACT [DOID:4288, NCIT:C6081]
synonym: "external Ear carcinoma" EXACT [NCIT:C6081]
synonym: "external ear carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4288 {source="MONDO:equivalentTo"}
xref: NCIT:C6081 {source="DOID:4288", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333492 {source="DOID:4288", source="MONDO:equivalentTo", source="NCIT:C6081"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6081/inferred"} ! head and neck carcinoma
is_a: MONDO:0003574 {source="DOID:4288", source="MONDO:Redundant", source="NCIT:C6081"} ! external ear cancer
property_value: exactMatch DOID:4288
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333492
property_value: exactMatch NCIT:C6081

[Term]
id: MONDO:0002945
name: micronodular basal cell carcinoma
def: "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." [NCIT:C27541]
synonym: "skin micronodular basal cell carcinoma" EXACT [DOID:4289]
xref: DOID:4289 {source="MONDO:equivalentTo"}
xref: NCIT:C27541 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:402529002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C1367861 {source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DOID:4289", source="MONDOLEX:0002945", source="NCIT:C27541", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4289
property_value: exactMatch http://identifiers.org/snomedct/402529002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367861
property_value: exactMatch NCIT:C27541

[Term]
id: MONDO:0002946
name: gynatresia
def: "A congenital or acquired occlusion of an opening in any part of the female genital tract." [NCIT:P378]
xref: DOID:429 {source="MONDO:equivalentTo"}
xref: EFO:1001335 {source="MONDO:equivalentTo"}
xref: MESH:D006175 {source="MONDO:equivalentTo", source="DOID:429"}
xref: NCIT:C84743 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:429"}
xref: UMLS:C0018414 {source="NCIT:C84743", source="MONDO:equivalentTo", source="DOID:429"}
is_a: MONDO:0002263 {source="DOID:429", source="MESH:D006175"} ! female reproductive system disease
property_value: exactMatch DOID:429
property_value: exactMatch http://identifiers.org/mesh/D006175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018414
property_value: exactMatch NCIT:C84743

[Term]
id: MONDO:0002947
name: adamantinoid basal cell epithelioma
synonym: "adamantinoid basal cell carcinoma" EXACT [NCIT:C7585]
synonym: "basal cell carcinoma - adamantinoid" EXACT [DOID:4290]
synonym: "melanotic adamantinoma of skin" EXACT [DOID:4290]
synonym: "skin adamantinoid basal cell carcinoma" EXACT [NCIT:C7585]
synonym: "skin adamantinoid basal cell epithelioma" EXACT [DOID:4290]
xref: DOID:4290 {source="MONDO:equivalentTo"}
xref: NCIT:C7585 {source="MONDO:equivalentTo", source="DOID:4290", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:402524007 {source="MONDO:equivalentTo", source="DOID:4290", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1304295 {source="NCIT:C7585", source="MONDO:equivalentTo", source="DOID:4290"}
is_a: MONDO:0005341 {source="DOID:4290", source="MONDOLEX:0002947", source="NCIT:C7585", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/254728002
property_value: exactMatch DOID:4290
property_value: exactMatch http://identifiers.org/snomedct/402524007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304295
property_value: exactMatch NCIT:C7585

[Term]
id: MONDO:0002948
name: skin fibroepithelial basal cell carcinoma
def: "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." [NCIT:P378]
synonym: "fibroepithelial basal cell carcinoma" RELATED [DOID:4291]
synonym: "fibroepithelioma of Pinkus" EXACT [NCIT:C4109]
synonym: "fibroepithelioma of Pinkus type" EXACT [DOID:4291]
synonym: "Pinkus tumor" EXACT [DOID:4291, NCIT:C4109]
xref: DOID:4291 {source="MONDO:equivalentTo"}
xref: ICDO:8093/3 {source="NCIT:C4109"}
xref: NCIT:C4109 {source="MONDO:equivalentTo", source="DOID:4291", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254703005 {source="MONDO:equivalentTo", source="DOID:4291", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346013 {source="MONDO:equivalentTo", source="DOID:4291", source="NCIT:C4109"}
is_a: MONDO:0005341 {source="DOID:4291", source="MONDOLEX:0002948", source="NCIT:C4109", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/43369006
property_value: exactMatch DOID:4291
property_value: exactMatch http://identifiers.org/snomedct/254703005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346013
property_value: exactMatch NCIT:C4109

[Term]
id: MONDO:0002949
name: morpheaform basal cell carcinoma
def: "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." [NCIT:P378]
synonym: "basal cell carcinoma sclerosing type" EXACT [NCIT:C27182]
synonym: "basal cell carcinoma, morphea" EXACT [DOID:4292]
synonym: "cicatricial basal-cell carcinoma" EXACT [DOID:4292]
synonym: "morphea-type (sclerosing) basal cell carcinoma" EXACT [DOID:4292, NCIT:C27182]
synonym: "morphea-type basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "morpheaform basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "sclerosing type basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "skin morphea-type (sclerosing) basal cell carcinoma" EXACT [NCIT:C27182]
xref: DOID:4292 {source="MONDO:equivalentTo"}
xref: NCIT:C27182 {source="MONDO:equivalentTo", source="DOID:4292", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:403913006 {source="MONDO:equivalentTo", source="DOID:4292"}
xref: UMLS:C0555191 {source="MONDO:equivalentTo", source="DOID:4292", source="NCIT:C27182"}
is_a: MONDO:0005341 {source="DOID:4292", source="MONDOLEX:0002949", source="NCIT:C27182", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/134152008
property_value: closeMatch http://identifiers.org/snomedct/302821007
property_value: closeMatch http://identifiers.org/snomedct/56665009
property_value: exactMatch DOID:4292
property_value: exactMatch http://identifiers.org/snomedct/403913006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0555191
property_value: exactMatch NCIT:C27182

[Term]
id: MONDO:0002950
name: skin clear cell basal cell carcinoma
def: "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." [NCIT:P378]
synonym: "clear cell basal cell carcinoma" EXACT [DOID:4293, NCIT:C27536]
synonym: "skin clear cell basal cell carcinoma" EXACT [NCIT:C27536]
xref: DOID:4293 {source="MONDO:equivalentTo"}
xref: NCIT:C27536 {source="MONDO:equivalentTo", source="DOID:4293", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1516599 {source="MONDO:equivalentTo", source="NCIT:C27536", source="DOID:4293"}
is_a: MONDO:0005341 {source="DOID:4293", source="MONDOLEX:0002950", source="NCIT:C27536"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516599
property_value: exactMatch NCIT:C27536

[Term]
id: MONDO:0002951
name: skin adenoid basal cell carcinoma
def: "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." [NCIT:C27535]
comment: Editor note: adenoid refers to histological subtype, not tonsils
synonym: "adenoid basal cell carcinoma" EXACT [DOID:4294, NCIT:C27535]
synonym: "skin adenoid basal cell carcinoma" EXACT [NCIT:C27535]
xref: DOID:4294 {source="MONDO:equivalentTo"}
xref: ICDO:8098/3 {source="NCIT:C27535"}
xref: NCIT:C27535 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:402525008 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DOID:4294", source="MONDOLEX:0002951", source="NCIT:C27535", source="linkedlifedata"} ! skin basal cell carcinoma
relationship: excluded_subClassOf MONDO:0006998 {source="DOID:4294"} ! tonsil cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266007
property_value: exactMatch DOID:4294
property_value: exactMatch http://identifiers.org/snomedct/402525008
property_value: exactMatch NCIT:C27535

[Term]
id: MONDO:0002952
name: follicular basal cell carcinoma
synonym: "follicular (pilar) basal cell carcinoma" EXACT [DOID:4295]
synonym: "skin follicular basal cell carcinoma" EXACT [NCIT:C27538]
xref: DOID:4295 {source="MONDO:equivalentTo"}
xref: NCIT:C27538 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:402526009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C1883723 {source="MONDO:equivalentTo", source="NCIT:C27538"}
is_a: MONDO:0005341 {source="DOID:4295", source="MONDOLEX:0002952", source="NCIT:C27538/inferred", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4295
property_value: exactMatch http://identifiers.org/snomedct/402526009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1883723
property_value: exactMatch NCIT:C27538

[Term]
id: MONDO:0002953
name: skin infiltrative basal cell carcinoma
def: "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues." [NCIT:P378]
synonym: "infiltrating basal cell carcinoma" EXACT [DOID:4299, NCIT:C27539]
synonym: "infiltrative basal cell carcinoma" RELATED [DOID:4299]
synonym: "skin infiltrating basal cell carcinoma" EXACT [NCIT:C27539]
xref: DOID:4299 {source="MONDO:equivalentTo"}
xref: ICDO:8092/3 {source="NCIT:C27539"}
xref: NCIT:C27539 {source="MONDO:equivalentTo"}
xref: UMLS:C0334257 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27539"}
is_a: MONDO:0005341 {source="DOID:4299", source="MONDOLEX:0002953", source="NCIT:C27539"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334257
property_value: exactMatch NCIT:C27539

[Term]
id: MONDO:0002954
name: superficial multifocal basal cell carcinoma
def: "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." [NCIT:C4108]
synonym: "multicentric basal cell carcinoma" EXACT [DOID:4300, NCIT:C4108]
synonym: "multifocal superficial basal cell carcinoma" EXACT [DOID:4300]
synonym: "multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [DOID:4300]
synonym: "superficial basal cell carcinoma" RELATED [DOID:4300]
synonym: "superficial multicentric basal-cell carcinoma" EXACT [DOID:4300]
synonym: "superficial multifocal basal cell carcinoma" EXACT [NCIT:C4108]
xref: DOID:4300 {source="MONDO:equivalentTo"}
xref: ICDO:8091/3 {source="NCIT:C4108"}
xref: NCIT:C4108 {source="DOID:4300", source="MONDO:equivalentTo"}
xref: SCTID:403914000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334256 {source="DOID:4300", source="MONDO:equivalentTo", source="NCIT:C4108"}
is_a: MONDO:0005341 {source="DOID:4300", source="MONDOLEX:0002954", source="NCIT:C4108/inferred", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/61098004
property_value: exactMatch DOID:4300
property_value: exactMatch http://identifiers.org/snomedct/403914000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334256
property_value: exactMatch NCIT:C4108

[Term]
id: MONDO:0002955
name: vulva basal cell carcinoma
def: "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." [NCIT:C6381]
synonym: "basal cell carcinoma of the vulva" EXACT [DOID:4301, NCIT:C6381]
synonym: "basal cell carcinoma of vulva" EXACT [DOID:4301, NCIT:C6381]
synonym: "mammalian vulva skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar basal cell cancer" EXACT [NCIT:C6381]
synonym: "vulvar basal cell carcinoma" EXACT [NCIT:C6381]
xref: DOID:4301 {source="MONDO:equivalentTo"}
xref: NCIT:C6381 {source="DOID:4301", source="MONDO:equivalentTo"}
xref: Orphanet:494451 {source="MONDO:equivalentTo"}
xref: SCTID:717731002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336977 {source="DOID:4301", source="MONDO:equivalentTo", source="NCIT:C6381"}
is_a: MONDO:0005215 {source="DOID:4301", source="MONDO:Redundant", source="MONDOLEX:0002955", source="NCIT:C6381", source="Orphanet:494451", source="linkedlifedata"} ! vulvar carcinoma
is_a: MONDO:0005341 {source="DOID:4301", source="MONDO:Redundant", source="MONDOLEX:0002955", source="NCIT:C6381", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4301
property_value: exactMatch http://identifiers.org/snomedct/717731002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336977
property_value: exactMatch NCIT:C6381
property_value: exactMatch Orphanet:494451

[Term]
id: MONDO:0002956
name: skin cystic basal cell carcinoma
synonym: "cystic basal cell carcinoma" EXACT [DOID:4302, NCIT:C27537]
synonym: "skin cystic basal cell carcinoma" EXACT [NCIT:C27537]
xref: DOID:4302 {source="MONDO:equivalentTo"}
xref: NCIT:C27537 {source="MONDO:equivalentTo"}
xref: SCTID:403912001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1275193 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27537"}
is_a: MONDO:0005341 {source="DOID:4302", source="MONDOLEX:0002956", source="NCIT:C27537", source="linkedlifedata"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4302
property_value: exactMatch http://identifiers.org/snomedct/403912001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275193
property_value: exactMatch NCIT:C27537

[Term]
id: MONDO:0002957
name: sarcomatoid basal cell carcinoma
synonym: "skin sarcomatoid basal cell carcinoma" EXACT [DOID:4303, NCIT:C38111]
xref: DOID:4303 {source="MONDO:equivalentTo"}
xref: NCIT:C38111 {source="DOID:4303", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1519182 {source="NCIT:C38111", source="DOID:4303", source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DOID:4303", source="MONDOLEX:0002957", source="NCIT:C38111"} ! skin basal cell carcinoma
is_a: MONDO:0006406 {source="NCIT:C38111"} ! sarcomatoid carcinoma
property_value: exactMatch DOID:4303
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519182
property_value: exactMatch NCIT:C38111

[Term]
id: MONDO:0002958
name: signet ring basal cell carcinoma
synonym: "signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110]
synonym: "skin signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110]
synonym: "skin signet ring cell basal cell carcinoma" EXACT [DOID:4304]
xref: DOID:4304 {source="MONDO:equivalentTo"}
xref: NCIT:C38110 {source="MONDO:equivalentTo", source="DOID:4304", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1519320 {source="NCIT:C38110", source="MONDO:equivalentTo", source="DOID:4304"}
is_a: MONDO:0005341 {source="DOID:4304", source="MONDOLEX:0002958", source="NCIT:C38110"} ! skin basal cell carcinoma
property_value: exactMatch DOID:4304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519320
property_value: exactMatch NCIT:C38110

[Term]
id: MONDO:0002959
name: radiculopathy
def: "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." [MESH:D011843]
comment: Editor note: DO classifies under polyradiculopathy, which we invert
synonym: "nerve root disorder" EXACT [DOID:4306]
synonym: "nerve root disorder, NOS" RELATED EXCLUDE [DOID:4306]
xref: DOID:4306 {source="MONDO:equivalentTo"}
xref: ICD10:M54.1 {source="MONDO:equivalentTo", source="DOID:4306"}
xref: ICD10:M54.10 {source="DOID:4306"}
xref: MESH:D011843 {source="MONDO:equivalentTo", source="DOID:4306", source="MONDO:ontobio"}
xref: SCTID:72274001 {source="MONDO:equivalentTo", source="DOID:4306", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0700594 {source="MONDO:equivalentTo", source="DOID:4306"}
is_a: MONDO:0003620 {source="DOID:4306/inferred", source="MESH:D011843", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
relationship: excluded_subClassOf MONDO:0002960 {source="DOID:4306"} ! polyradiculopathy
property_value: closeMatch http://identifiers.org/snomedct/394640000
property_value: exactMatch DOID:4306
property_value: exactMatch http://identifiers.org/mesh/D011843
property_value: exactMatch http://identifiers.org/snomedct/72274001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700594

[Term]
id: MONDO:0002960
name: polyradiculopathy
def: "A radiculopathy that is present in more than one nerve." [NCIT:P378]
xref: DOID:4307 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011128 {source="MONDO:equivalentTo", source="DOID:4307"}
xref: NCIT:C34934 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4307"}
xref: SCTID:75572007 {source="MONDO:equivalentTo", source="DOID:4307", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032586 {source="MONDO:equivalentTo", source="DOID:4307", source="NCIT:C34934"}
is_a: MONDO:0006915 {source="DOID:4307", source="MESH:D011128"} ! polyradiculoneuropathy
property_value: exactMatch DOID:4307
property_value: exactMatch http://identifiers.org/mesh/D011128
property_value: exactMatch http://identifiers.org/snomedct/75572007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032586
property_value: exactMatch NCIT:C34934

[Term]
id: MONDO:0002961
name: large cell acanthoma
xref: DOID:4321 {source="MONDO:equivalentTo"}
xref: NCIT:C27518 {source="DOID:4321", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334362 {source="DOID:4321", source="MONDO:equivalentTo", source="NCIT:C27518"}
is_a: MONDO:0002093 {source="DOID:4321", source="NCIT:C27518"} ! acanthoma (disease)
property_value: exactMatch DOID:4321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334362
property_value: exactMatch NCIT:C27518

[Term]
id: MONDO:0002962
name: epidermolytic acanthoma
def: "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." [NCIT:P378]
xref: DOID:4323 {source="MONDO:equivalentTo"}
xref: NCIT:C27516 {source="DOID:4323", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333414 {source="DOID:4323", source="MONDO:equivalentTo", source="NCIT:C27516"}
is_a: MONDO:0002093 {source="DOID:4323", source="NCIT:C27516"} ! acanthoma (disease)
property_value: exactMatch DOID:4323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333414
property_value: exactMatch NCIT:C27516

[Term]
id: MONDO:0002963
name: acantholytic acanthoma
def: "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." [NCIT:P378]
synonym: "acantholytic acanthoma" EXACT [DOID:4324, NCIT:C27517]
xref: DOID:4324 {source="MONDO:equivalentTo"}
xref: NCIT:C27517 {source="DOID:4324", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1301270 {source="DOID:4324", source="MONDO:equivalentTo", source="NCIT:C27517"}
is_a: MONDO:0002093 {source="DOID:4324", source="NCIT:C27517"} ! acanthoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/397188008
property_value: exactMatch DOID:4324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301270
property_value: exactMatch NCIT:C27517

[Term]
id: MONDO:0002964
name: obsolete non-Langerhans-cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0015531

[Term]
id: MONDO:0002965
name: parovarian cyst
def: "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." [MESH:D010310]
synonym: "cyst, fimbrial" EXACT [DOID:4333, MTHICD9_2006:752.11]
synonym: "cyst, Paratubal" RELATED [MESH:D010310]
synonym: "cyst, parovarian" RELATED [MESH:D010310]
synonym: "cysts, Paratubal" RELATED [MESH:D010310]
synonym: "cysts, parovarian" RELATED [MESH:D010310]
synonym: "embryonic fimbrial cyst" EXACT [DOID:4333]
synonym: "fimbrial cyst" RELATED []
synonym: "hydatid cyst of Morgagni" RELATED [MESH:D010310]
synonym: "hydatid of Morgagni" RELATED [MESH:D010310]
synonym: "Morgagni hydatid" RELATED [MESH:D010310]
synonym: "Morgagni hydatid cyst" RELATED [MESH:D010310]
synonym: "Morgagni hydatid cysts" RELATED [MESH:D010310]
synonym: "Morgagni Hydatids" RELATED [MESH:D010310]
synonym: "Paratubal cyst" RELATED [MESH:D010310]
synonym: "Paratubal cysts" RELATED [MESH:D010310]
synonym: "parovarian cyst" EXACT []
synonym: "parovarian cysts" RELATED [MESH:D010310]
xref: DOID:4333 {source="MONDO:equivalentTo"}
xref: ICD10:Q50.4 {source="MONDO:subClassOf", source="DOID:4333"}
xref: ICD10:Q50.5 {source="DOID:4333"}
xref: MESH:D010310 {source="DOID:4333", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:64233004 {source="DOID:4333", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030584 {source="DOID:4333", source="MONDO:equivalentTo"}
is_a: MONDO:0024652 {source="linkedlifedata"} ! embryonic cyst of fallopian tube
property_value: closeMatch http://identifiers.org/snomedct/204831002
property_value: exactMatch DOID:4333
property_value: exactMatch http://identifiers.org/mesh/D010310
property_value: exactMatch http://identifiers.org/snomedct/64233004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030584

[Term]
id: MONDO:0002966
name: splenic manifestation of prolymphocytic leukemia
def: "A prolymphocytic leukemia that involves the spleen." [MONDO:patterns/location]
synonym: "prolymphocytic leukemia of spleen" EXACT [MONDO:design_pattern]
synonym: "spleen prolymphocytic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "splenic manifestation of prolymphocytic leukemia" EXACT [NCIT:C7297]
xref: DOID:4334 {source="MONDO:equivalentTo"}
xref: NCIT:C7297 {source="DOID:4334", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336066 {source="NCIT:C7297", source="DOID:4334", source="MONDO:equivalentTo"}
is_a: MONDO:0001023 {source="MONDO:Redundant", source="MONDOLEX:0002966", source="NCIT:C7297"} ! prolymphocytic leukemia
is_a: MONDO:0004107 {source="DOID:4334", source="MONDO:Redundant", source="NCIT:C7297"} ! splenic manifestation of leukemia
is_a: MONDO:0004699 ! gastrointestinal lymphoma
is_a: MONDO:0017814 ! primary bone lymphoma
property_value: exactMatch DOID:4334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336066
property_value: exactMatch NCIT:C7297

[Term]
id: MONDO:0002967
name: dermatophytosis of scalp or beard
def: "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." [NCIT:C34536]
synonym: "dermatophytosis of scalp" EXACT []
synonym: "dermatophytosis of scalp" RELATED [DOID:4337]
synonym: "dermatophytosis of scalp and Beard" EXACT [NCIT:C34536]
synonym: "dermatophytosis of scalp or beard" EXACT [DOID:4337]
synonym: "scalp dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "scalp ringworm" EXACT [DOID:4337]
synonym: "tinea capitis" RELATED [DOID:4337]
synonym: "tinea capitis due to Trichophyton rubrum" EXACT [DOID:4337]
synonym: "Trichophyton rubrum tinea capitis" EXACT [DOID:4337]
xref: COHD:141508 {source="MONDO:equivalentTo"}
xref: DOID:4337 {source="MONDO:equivalentTo"}
xref: ICD9:110.0 {source="MONDO:equivalentTo", source="DOID:4337", source="i2s"}
xref: NCIT:C34536 {source="MONDO:equivalentTo", source="DOID:4337"}
xref: SCTID:266148000 {source="MONDO:equivalentTo", source="DOID:4337", source="MONDO:kboom-pr-0.97/0.84/1.95"}
xref: UMLS:C0011640 {source="MONDO:equivalentTo", source="DOID:4337", source="NCIT:C34536"}
xref: UMLS:C1274426 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:4337", source="MONDO:Redundant", source="NCIT:C34536", source="linkedlifedata"} ! dermatophytosis
is_a: MONDO:0044999 ! scalp disease
property_value: closeMatch http://identifiers.org/snomedct/186985002
property_value: closeMatch http://identifiers.org/snomedct/186987005
property_value: exactMatch DOID:4337
property_value: exactMatch http://identifiers.org/snomedct/266148000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274426
property_value: exactMatch NCIT:C34536

[Term]
id: MONDO:0002968
name: lymphocele
def: "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." [NCIT:P378]
synonym: "lymph cyst" EXACT [DOID:4347]
xref: DOID:4347 {source="MONDO:equivalentTo"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008210 {source="DOID:4347", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:234110002 {source="DOID:4347", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0024248 {source="DOID:4347", source="MONDO:equivalentTo"}
is_a: MONDO:0005833 {source="DOID:4347", source="MESH:D008210", source="linkedlifedata"} ! lymphatic system disease
property_value: closeMatch http://identifiers.org/snomedct/12167004
property_value: closeMatch http://identifiers.org/snomedct/234109007
property_value: exactMatch DOID:4347
property_value: exactMatch http://identifiers.org/mesh/D008210
property_value: exactMatch http://identifiers.org/snomedct/234110002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024248
property_value: exactMatch NCIT:C78442

[Term]
id: MONDO:0002969
name: ciliary body cancer
def: "A malignant neoplasm involving the ciliary body." [MONDO:DesignPattern]
synonym: "cancer of ciliary body" EXACT [MONDO:patterns/cancer]
synonym: "ciliary body cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ciliary body neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4766]
synonym: "malignant ciliary body tumor" EXACT [NCIT:C4766]
synonym: "malignant neoplasm of ciliary body" EXACT [DOID:4352, MONDO:patterns/cancer, NCIT:C4766]
synonym: "malignant neoplasm of the ciliary body" EXACT [NCIT:C4766]
synonym: "malignant tumor of ciliary body" EXACT [NCIT:C4766]
synonym: "malignant tumor of the ciliary body" EXACT [DOID:4352, NCIT:C4766]
synonym: "neoplasm of ciliary body" EXACT EXCLUDE [DOID:4352]
synonym: "tumor of the ciliary body" EXACT [DOID:4352, NCIT:C4364]
xref: DOID:4352 {source="MONDO:equivalentTo"}
xref: ICD10:C69.4 {source="DOID:4352"}
xref: NCIT:C4766 {source="MONDO:equivalentTo", source="DOID:4352", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:188263008 {source="MONDO:equivalentTo", source="DOID:4352", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0496833 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="NCIT:C4766", source="DOID:4352"}
is_a: MONDO:0002658 {source="DOID:4352", source="MONDO:Entailed", source="MONDO:Redundant"} ! iris cancer
is_a: MONDO:0021229 {source="MONDO:Redundant", source="NCIT:C4766"} ! ciliary body neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126998003
property_value: closeMatch http://identifiers.org/snomedct/93756008
property_value: exactMatch DOID:4352
property_value: exactMatch http://identifiers.org/snomedct/188263008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496833
property_value: exactMatch NCIT:C4766

[Term]
id: MONDO:0002970
name: ciliary body disease
def: "A disease involving the ciliary body." [MONDO:DesignPattern]
synonym: "ciliary body disease" EXACT [MONDO:patterns/location, NCIT:C35775]
synonym: "ciliary body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ciliary body disorder" EXACT [NCIT:C35775]
synonym: "disease of ciliary body" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ciliary body" EXACT []
synonym: "disorder of ciliary body" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ciliary body" RELATED [MONDO:patterns/location_top]
xref: COHD:442770 {source="MONDO:equivalentTo"}
xref: DOID:4353 {source="MONDO:equivalentTo"}
xref: NCIT:C35775 {source="DOID:4353", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:68575007 {source="DOID:4353", source="MONDO:equivalentTo"}
xref: UMLS:C0271100 {source="DOID:4353", source="MONDO:equivalentTo", source="NCIT:C35775"}
is_a: MONDO:0002289 {source="DOID:4353"} ! iris disease
property_value: closeMatch http://identifiers.org/snomedct/155116005
property_value: closeMatch http://identifiers.org/snomedct/193481009
property_value: closeMatch http://identifiers.org/snomedct/267719008
property_value: exactMatch DOID:4353
property_value: exactMatch http://identifiers.org/snomedct/68575007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271100
property_value: exactMatch NCIT:C35775

[Term]
id: MONDO:0002971
name: amelanotic melanoma
def: "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." [NCIT:C3802]
synonym: "amelanotic melanoma" EXACT [DOID:4359, MESH:D018328, NCIT:C3802]
synonym: "amelanotic melanoma (morphologic abnormality)" EXACT [DOID:4359]
synonym: "amelanotic melanomas" RELATED [MESH:D018328]
synonym: "melanoma, amelanotic, malignant" EXACT [NCIT:C3802]
synonym: "melanomas, amelanotic" RELATED [MESH:D018328]
xref: DOID:4359 {source="MONDO:equivalentTo"}
xref: EFO:1001937 {source="MONDO:equivalentTo"}
xref: ICDO:8730/3 {source="NCIT:C3802"}
xref: MESH:D018328 {source="MONDO:equivalentTo", source="DOID:4359", source="MONDO:ontobio"}
xref: NCIT:C3802 {source="MONDO:equivalentTo", source="DOID:4359", source="exact-label-match"}
xref: UMLS:C0206735 {source="MONDO:equivalentTo", source="DOID:4359", source="NCIT:C3802"}
is_a: MONDO:0005105 {source="DOID:4359", source="EFO:1001937", source="MESH:D018328", source="NCIT:C3802"} ! melanoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/70594002
property_value: exactMatch DOID:4359
property_value: exactMatch http://identifiers.org/mesh/D018328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206735
property_value: exactMatch NCIT:C3802

[Term]
id: MONDO:0002972
name: posterior mediastinum cancer
def: "A malignant neoplasm involving the posterior mediastinum." [MONDO:DesignPattern]
synonym: "cancer of posterior mediastinum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of posterior mediastinum" EXACT [MONDO:patterns/cancer]
synonym: "malignant posterior mediastinum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "posterior mediastinum cancer" EXACT [MONDO:patterns/location]
xref: COHD:40490995 {source="MONDO:equivalentTo"}
xref: DOID:436 {source="MONDO:equivalentTo"}
xref: ICD10:C38.2 {source="DOID:436"}
xref: ICD9:164.3 {source="DOID:436", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:448670003 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="DOID:436", source="MONDO:equivalentTo"}
xref: UMLS:C0153502 {source="DOID:436", source="MONDO:equivalentTo"}
is_a: MONDO:0005843 {source="DOID:436", source="MONDO:Redundant", source="MONDOLEX:0002972", source="linkedlifedata"} ! mediastinal cancer
property_value: closeMatch http://identifiers.org/snomedct/187888005
property_value: exactMatch DOID:436
property_value: exactMatch http://identifiers.org/snomedct/448670003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153502

[Term]
id: MONDO:0002973
name: epithelioid cell melanoma
def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C4236]
synonym: "epithelioid cell malignant melanoma" EXACT [NCIT:C4236]
synonym: "epithelioid cell melanoma" EXACT [NCIT:C4236]
synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [DOID:4360]
synonym: "epithelioid melanoma" EXACT [DOID:4360, NCIT:C4236]
xref: DOID:4360 {source="MONDO:equivalentTo"}
xref: ICDO:8771/3 {source="NCIT:C4236"}
xref: NCIT:C4236 {source="MONDO:equivalentTo", source="DOID:4360"}
xref: UMLS:C0334443 {source="MONDO:equivalentTo", source="NCIT:C4236", source="DOID:4360"}
is_a: MONDO:0005105 {source="DOID:4360", source="NCIT:C4236"} ! melanoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/37138001
property_value: exactMatch DOID:4360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334443
property_value: exactMatch NCIT:C4236

[Term]
id: MONDO:0002974
name: cervical cancer
def: "A primary or metastatic malignant neoplasm involving the cervix." [NCIT:C9311]
synonym: "cancer of uterine cervix" EXACT [MONDO:patterns/cancer]
synonym: "cervical neoplasm" BROAD [CSP2005:2016-1746, DOID:4362]
synonym: "cervix cancer" EXACT [DOID:4362]
synonym: "cervix uteri cancer" EXACT [DOID:4362]
synonym: "malignant cervical neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervical tumor" EXACT [NCIT:C9311]
synonym: "malignant cervix neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervix tumor" EXACT [NCIT:C9311]
synonym: "malignant cervix uteri neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervix uteri tumor" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of uterine cervix" EXACT [MONDO:patterns/cancer, NCIT:C9311]
synonym: "malignant tumor of cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant tumor of the cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of the cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant tumor of the uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant uterine cervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9311]
synonym: "malignant uterine cervix tumor" EXACT [NCIT:C9311]
synonym: "neoplasm of uterine cervix" EXACT EXCLUDE [DOID:4362]
synonym: "tumor of the cervix uteri" BROAD [DOID:4362, NCIT:C2940]
synonym: "uterine cervical neoplasm" BROAD [DOID:4362]
synonym: "uterine cervix cancer" EXACT [MONDO:patterns/location]
xref: COHD:198984 {source="MONDO:equivalentTo"}
xref: DOID:4362 {source="MONDO:equivalentTo"}
xref: ICD10:C53 {source="DOID:4362"}
xref: ICD10:C53.9 {source="DOID:4362"}
xref: ICD9:180 {source="DOID:4362"}
xref: ICD9:180.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:180.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:4362"}
xref: NCIT:C9311 {source="MONDO:equivalentTo", source="DOID:4362"}
xref: OMIM:603956 {source="MONDO:equivalentTo", source="DOID:4362"}
xref: SCTID:363354003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.50", source="DOID:4362"}
is_a: MONDO:0002715 {source="MONDO:Redundant", source="NCIT:C9311", source="OWLReasoner:2017", source="linkedlifedata"} ! uterine cancer
is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cervix neoplasm
property_value: closeMatch http://identifiers.org/mesh/D002583
property_value: closeMatch http://identifiers.org/snomedct/123841004
property_value: closeMatch http://identifiers.org/snomedct/188174005
property_value: closeMatch http://identifiers.org/snomedct/188186008
property_value: closeMatch http://identifiers.org/snomedct/254885005
property_value: closeMatch http://identifiers.org/snomedct/93752005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007847
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007873
property_value: exactMatch DOID:4362
property_value: exactMatch http://identifiers.org/omim/603956
property_value: exactMatch http://identifiers.org/snomedct/363354003
property_value: exactMatch NCIT:C9311

[Term]
id: MONDO:0002975
name: malignant breast melanoma
def: "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." [NCIT:C8410]
synonym: "breast melanoma" EXACT [DOID:4364, NCIT:C8410]
synonym: "breast melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant breast melanoma" EXACT [NCIT:C8410]
synonym: "malignant melanoma of breast" EXACT [NCIT:C8410]
synonym: "malignant melanoma of the breast" EXACT [NCIT:C8410]
synonym: "melanoma (disease) of breast" EXACT []
xref: DOID:4364 {source="MONDO:equivalentTo"}
xref: NCIT:C8410 {source="DOID:4364", source="MONDO:equivalentTo"}
xref: SCTID:188050009 {source="DOID:4364", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346787 {source="DOID:4364", source="NCIT:C8410", source="MONDO:equivalentTo"}
is_a: MONDO:0002485 ! breast neuroendocrine neoplasm
is_a: MONDO:0005105 {source="DOID:4364", source="MONDO:Redundant", source="NCIT:C8410", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanoma (disease)
is_a: MONDO:0007254 {source="DOID:4364", source="NCIT:C8410", source="linkedlifedata"} ! breast cancer
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: exactMatch DOID:4364
property_value: exactMatch http://identifiers.org/snomedct/188050009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346787
property_value: exactMatch NCIT:C8410

[Term]
id: MONDO:0002976
name: stomach diverticulosis
def: "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." [MESH:D045724]
xref: DOID:4370 {source="MONDO:equivalentTo"}
xref: MESH:D045724 {source="MONDO:equivalentTo", source="DOID:4370", source="MONDO:ontobio"}
xref: UMLS:C1148546 {source="MONDO:equivalentTo", source="DOID:4370"}
is_a: MONDO:0004298 {source="DOID:4370", source="MESH:D045724"} ! stomach disease
property_value: exactMatch DOID:4370
property_value: exactMatch http://identifiers.org/mesh/D045724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1148546

[Term]
id: MONDO:0002977
name: autoimmune disease of the nervous system
def: "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." [NCIT:C99383]
synonym: "autoimmune disease of nervous system" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, neurologic" EXACT [MESH:D020274]
synonym: "autoimmune diseases, nervous system" EXACT [MESH:D020274]
synonym: "autoimmune diseases, neurologic" EXACT [MESH:D020274]
synonym: "autoimmune disorders of the nervous system" EXACT [MESH:D020274]
synonym: "autoimmune disorders, nervous system" EXACT [MESH:D020274]
synonym: "autoimmune nervous system diseases" EXACT [MESH:D020274]
synonym: "autoimmune nervous system disorder" EXACT [CSP2005:1560-5548, DOID:438, NCIT:C99383]
synonym: "disease, neurologic autoimmune" EXACT [MESH:D020274]
synonym: "diseases, neurologic autoimmune" EXACT [MESH:D020274]
synonym: "immune diseases, nervous system" EXACT [MESH:D020274]
synonym: "immune disorders, nervous system" EXACT [MESH:D020274]
synonym: "nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nervous system autoimmune diseases" EXACT [MESH:D020274]
synonym: "nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "nervous system immune diseases" EXACT [MESH:D020274]
synonym: "nervous system immune disorders" EXACT [MESH:D020274]
synonym: "neurologic autoimmune disease" EXACT [MESH:D020274]
synonym: "neurologic autoimmune diseases" EXACT [MESH:D020274]
xref: DOID:438 {source="MONDO:equivalentTo"}
xref: MESH:D020274 {source="DOID:438", source="MONDO:equivalentTo"}
xref: NCIT:C99383 {source="DOID:438", source="MONDO:equivalentTo"}
xref: UMLS:C0751871 {source="DOID:438", source="NCIT:C99383", source="MONDO:equivalentTo"}
xref: UMLS:C0751872 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383/inferred", source="OWLReasoner:2017"} ! nervous system disorder
is_a: MONDO:0007179 {source="DOID:438", source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383", source="OWLReasoner:2017"} ! autoimmune disease
property_value: exactMatch DOID:438
property_value: exactMatch http://identifiers.org/mesh/D020274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751872
property_value: exactMatch NCIT:C99383

[Term]
id: MONDO:0002978
name: orbit alveolar rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma." [NCIT:P378]
synonym: "alveolar rhabdomyosarcoma of orbit" EXACT [NCIT:C6247]
synonym: "alveolar rhabdomyosarcoma of the orbit" EXACT [DOID:4384, NCIT:C6247]
xref: DOID:4384 {source="MONDO:equivalentTo"}
xref: NCIT:C6247 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:4384"}
xref: UMLS:C1335126 {source="MONDO:equivalentTo", source="NCIT:C6247", source="DOID:4384"}
is_a: MONDO:0002580 {source="DOID:4384", source="MONDOLEX:0002978", source="NCIT:C6247"} ! orbit rhabdomyosarcoma
property_value: exactMatch DOID:4384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335126
property_value: exactMatch NCIT:C6247

[Term]
id: MONDO:0002979
name: papillary squamous carcinoma
def: "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva." [NCIT:P378]
synonym: "papillary epidermoid carcinoma" EXACT [DOID:4385, NCIT:C4102]
synonym: "papillary epidermoid cell carcinoma" EXACT [NCIT:C4102]
synonym: "papillary squamous carcinoma" EXACT [NCIT:C4102]
synonym: "papillary squamous cell carcinoma" EXACT [NCIT:C4102]
xref: DOID:4385 {source="MONDO:equivalentTo"}
xref: ICDO:8052/3 {source="NCIT:C4102"}
xref: NCIT:C4102 {source="MONDO:kboom-pr-1.00/0.91/26.37", source="MONDO:equivalentTo", source="DOID:4385"}
xref: UMLS:C0334244 {source="MONDO:equivalentTo", source="NCIT:C4102", source="DOID:4385"}
is_a: MONDO:0005096 {source="DOID:4385", source="MONDO:Redundant", source="MONDOLEX:0002979", source="NCIT:C4102"} ! squamous cell carcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C4102"} ! papillary carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C4102"} ! squamous cell carcinoma
intersection_of: MONDO:0006509 {source="NCIT:C4102"} ! papillary carcinoma
property_value: closeMatch http://identifiers.org/snomedct/39056008
property_value: exactMatch DOID:4385
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334244
property_value: exactMatch NCIT:C4102

[Term]
id: MONDO:0002980
name: obsolete myofibroma
is_obsolete: true
replaced_by: MONDO:0006312

[Term]
id: MONDO:0002981
name: peripheral primitive neuroectodermal tumor of bone
def: "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." [NCIT:C8776]
synonym: "bone peripheral neuroepithelioma" EXACT [NCIT:C8776]
synonym: "bone tissue peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "osseous peripheral neuroepithelioma" EXACT [DOID:4388, NCIT:C8776]
synonym: "peripheral neuroectodermal tumor of bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroectodermal tumor of the bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroepithelioma of bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroepithelioma of the bone" EXACT [NCIT:C8776]
synonym: "peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C8776]
synonym: "peripheral primitive neuroectodermal tumor of bone tissue" EXACT [MONDO:design_pattern]
xref: DOID:4388 {source="MONDO:equivalentTo"}
xref: NCIT:C8776 {source="DOID:4388", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.91/0.61"}
xref: UMLS:C0855009 {source="DOID:4388", source="MONDO:equivalentTo", source="NCIT:C8776"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0018271 {source="MONDO:Redundant", source="MONDOLEX:0002981", source="NCIT:C8776"} ! peripheral primitive neuroectodermal tumor
is_a: MONDO:0021123 {source="MONDO:Redundant", source="NCIT:C8776"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
property_value: exactMatch DOID:4388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855009
property_value: exactMatch NCIT:C8776

[Term]
id: MONDO:0002982
name: peripheral primitive neuroectodermal tumor of soft tissues
def: "A small round cell tumor with neural differentiation arising from the soft tissues." [NCIT:C27471]
synonym: "peripheral neuroectodermal tumor of soft tissues" EXACT [DOID:4389, NCIT:C27471]
synonym: "peripheral neuroectodermal tumor of the soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral neuroepithelioma of soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral neuroepithelioma of the soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral primitive neuroectodermal tumor of soft tissues" EXACT [NCIT:C27471]
synonym: "soft tissue peripheral neuroepithelioma" RELATED [DOID:4389]
xref: DOID:4389 {source="MONDO:equivalentTo"}
xref: NCIT:C27471 {source="DOID:4389", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.91/0.82"}
xref: UMLS:C1112437 {source="DOID:4389", source="MONDO:equivalentTo", source="NCIT:C27471"}
is_a: MONDO:0018271 {source="MONDOLEX:0002982", source="NCIT:C27471"} ! peripheral primitive neuroectodermal tumor
is_a: MONDO:0021039 {source="NCIT:C27471"} ! extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0018270 {source="DOID:4389"} ! extraskeletal Ewing sarcoma
property_value: exactMatch DOID:4389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112437
property_value: exactMatch NCIT:C27471

[Term]
id: MONDO:0002983
name: obsolete neuromuscular junction disease
is_obsolete: true
replaced_by: MONDO:0020124

[Term]
id: MONDO:0002984
name: reticulohistiocytic granuloma
def: "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" [NCIT:P378]
synonym: "reticulohistiocytic granuloma (morphologic abnormality)" EXACT [DOID:4394]
synonym: "Reticulohistiocytoma" EXACT [DOID:4394]
synonym: "solitary histiocytoma" RELATED [GARD:0012967]
synonym: "solitary Reticulohistiocytoma" EXACT [DOID:4394, NCIT:C3356]
synonym: "solitary reticulohistiocytoma" EXACT [DOID:4394]
synonym: "solitary reticulohistiocytosis" RELATED [GARD:0012967]
xref: DOID:4394 {source="MONDO:equivalentTo"}
xref: GARD:0012967 {source="MONDO:equivalentTo"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3356 {source="MONDO:equivalentTo", source="DOID:4394", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:404162004 {source="MONDO:equivalentTo", source="DOID:4394", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0035290 {source="MONDO:equivalentTo", source="NCIT:C3356", source="DOID:4394"}
is_a: MONDO:0002637 {source="DOID:4394"} ! histiocytosis
property_value: closeMatch http://identifiers.org/snomedct/128741006
property_value: closeMatch http://identifiers.org/snomedct/15960008
property_value: closeMatch http://identifiers.org/snomedct/189097004
property_value: exactMatch DOID:4394
property_value: exactMatch http://identifiers.org/snomedct/404162004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035290
property_value: exactMatch NCIT:C3356

[Term]
id: MONDO:0002985
name: obsolete pustulosis of palm and sole
is_obsolete: true
replaced_by: MONDO:0015597

[Term]
id: MONDO:0002986
name: obsolete neuromuscular disease
is_obsolete: true
replaced_by: MONDO:0019056

[Term]
id: MONDO:0002987
name: spongiotic dermatitis
def: "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication." [NCIT:P378]
xref: DOID:4406 {source="MONDO:equivalentTo"}
xref: EFO:1000768 {source="MONDO:equivalentTo"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27037 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4406"}
xref: SCTID:23615008 {source="MONDO:equivalentTo", source="DOID:4406", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0262984 {source="NCIT:C27037", source="MONDO:equivalentTo", source="DOID:4406"}
is_a: MONDO:0002406 {source="DOID:4406", source="NCIT:C27037"} ! dermatitis
property_value: exactMatch DOID:4406
property_value: exactMatch http://identifiers.org/snomedct/23615008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262984
property_value: exactMatch NCIT:C27037

[Term]
id: MONDO:0002988
name: cervix melanoma
def: "An aggressive malignant tumor of melanocytic origin that arises from the cervix." [NCIT:P378]
subset: gard_rare
synonym: "cervical melanoma" EXACT [NCIT:C40239]
synonym: "melanoma of the cervix" EXACT [NCIT:C40239]
synonym: "primary malignant melanoma of the cervix uteri" RELATED [GARD:0009664]
synonym: "primary malignant melanoma of the uterine cervix" RELATED [GARD:0009664]
xref: DOID:4413 {source="MONDO:equivalentTo"}
xref: GARD:0009664 {source="MONDO:equivalentTo"}
xref: NCIT:C40239 {source="DOID:4413", source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0877611 {source="NCIT:C40239", source="DOID:4413", source="MONDO:equivalentTo"}
is_a: MONDO:0000544 {source="NCIT:C40239"} ! mucosal melanoma
is_a: MONDO:0002974 {source="DOID:4413", source="NCIT:C40239"} ! cervical cancer
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: exactMatch DOID:4413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877611
property_value: exactMatch NCIT:C40239

[Term]
id: MONDO:0002989
name: benign fibrous histiocytoma
def: "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." [NCIT:P378]
synonym: "benign fibrous histiocytoma" EXACT [NCIT:C3739]
synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [DOID:4415]
synonym: "fibrous histiocytoma" EXACT [DOID:4415, NCIT:C3739]
synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [DOID:4415]
synonym: "fibroxanthoma" EXACT [DOID:4415]
synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [DOID:4415]
synonym: "histiocytoma, fibrous, benign" EXACT [NCIT:C3739]
xref: DOID:4415 {source="MONDO:equivalentTo"}
xref: ICDO:8830/0 {source="NCIT:C3739"}
xref: MESH:D018219 {source="DOID:4415", source="MONDO:equivalentTo"}
xref: NCIT:C3739 {source="DOID:4415", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0206644 {source="NCIT:C3739", source="DOID:4415", source="MONDO:equivalentTo"}
is_a: MONDO:0005509 {source="DOID:4415", source="MESH:D018219", source="NCIT:C3739"} ! histiocytoma
property_value: closeMatch http://identifiers.org/snomedct/189769003
property_value: closeMatch http://identifiers.org/snomedct/189770002
property_value: closeMatch http://identifiers.org/snomedct/25889007
property_value: exactMatch DOID:4415
property_value: exactMatch http://identifiers.org/mesh/D018219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206644
property_value: exactMatch NCIT:C3739

[Term]
id: MONDO:0002990
name: benign deep fibrous histiocytoma
def: "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." [NCIT:P378]
synonym: "benign deep fibrous histiocytoma" EXACT [NCIT:C6492]
synonym: "deep benign fibrous histiocytoma" EXACT [NCIT:C6492]
xref: DOID:4419 {source="MONDO:equivalentTo"}
xref: NCIT:C6492 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4419"}
xref: UMLS:C1266125 {source="MONDO:equivalentTo", source="DOID:4419", source="NCIT:C6492"}
is_a: MONDO:0002989 {source="MONDOLEX:0002990", source="NCIT:C6492"} ! benign fibrous histiocytoma
relationship: excluded_subClassOf MONDO:0000630 {source="DOID:4419"} ! immune system organ benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128741006
property_value: exactMatch DOID:4419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266125
property_value: exactMatch NCIT:C6492

[Term]
id: MONDO:0002991
name: adenocarcinofibroma
def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." [NCIT:C40035]
synonym: "adenocarcinofibroma" EXACT [NCIT:C40035]
synonym: "adenofibroma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant adenofibroma" EXACT [NCIT:C40035]
xref: DOID:4422 {source="MONDO:equivalentTo"}
xref: NCIT:C40035 {source="DOID:4422", source="MONDO:equivalentTo"}
xref: UMLS:C1510778 {source="DOID:4422", source="MONDO:equivalentTo", source="NCIT:C40035"}
is_a: MONDO:0001416 {source="NCIT:C40035"} ! female reproductive organ cancer
is_a: MONDO:0005853 {source="DOID:4422/inferred", source="NCIT:C40035"} ! malignant mixed neoplasm
property_value: exactMatch DOID:4422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510778
property_value: exactMatch NCIT:C40035

[Term]
id: MONDO:0002992
name: obsolete juvenile xanthogranuloma
is_obsolete: true
replaced_by: MONDO:0015534

[Term]
id: MONDO:0002993
name: pancreatic somatostatinoma
def: "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." [NCIT:C95595]
synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [DOID:4432]
synonym: "pancreatic somatostatin cell tumor" EXACT [DOID:4432, NCIT:C8006]
xref: DOID:4432 {source="MONDO:equivalentTo"}
xref: EFO:1001964 {source="MONDO:equivalentTo"}
xref: NCIT:C95595 {source="DOID:4432", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1368041 {source="DOID:4432", source="MONDO:equivalentTo", source="NCIT:C95595"}
is_a: MONDO:0002994 {source="NCIT:C8006", source="NCIT:C95595/inferred"} ! pancreatic delta cell neuroendocrine tumor
property_value: closeMatch NCIT:C8006
property_value: exactMatch DOID:4432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368041
property_value: exactMatch NCIT:C95595

[Term]
id: MONDO:0002994
name: pancreatic delta cell neuroendocrine tumor
def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." [NCIT:C28396]
synonym: "pancreatic Delta cell neoplasm" EXACT [NCIT:C28396]
synonym: "pancreatic delta cell neoplasm" EXACT [DOID:4433]
synonym: "pancreatic Delta cell NET" EXACT [NCIT:C28396]
synonym: "pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28396]
synonym: "pancreatic Delta cell tumor" EXACT [DOID:4433, NCIT:C28396]
xref: DOID:4433 {source="MONDO:equivalentTo"}
xref: NCIT:C28396 {source="DOID:4433", source="MONDO:equivalentTo"}
xref: UMLS:C1335301 {source="NCIT:C28396", source="DOID:4433", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C28396/inferred"} ! epithelial neoplasm
is_a: MONDO:0019954 {source="MONDO:Redundant", source="NCIT:C28396"} ! pancreatic neuroendocrine tumor
property_value: exactMatch DOID:4433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335301
property_value: exactMatch NCIT:C28396

[Term]
id: MONDO:0002995
name: small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." [NCIT:C96061]
synonym: "carcinoid tumor of small intestine" RELATED [MONDO:cjm]
synonym: "small intestinal NET" EXACT [NCIT:C96061]
synonym: "small intestinal neuroendocrine tumor" EXACT [NCIT:C96061]
synonym: "small intestinal well differentiated endocrine tumor" EXACT [NCIT:C96061]
synonym: "small intestinal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96061]
synonym: "small intestine neuroendocrine tumor" EXACT [MONDO:patterns/location, NCIT:C5803]
xref: EFO:1001928 {source="MONDO:equivalentTo"}
xref: NCIT:C96061 {source="MONDO:equivalentTo"}
xref: UMLS:C3272528 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C96061", source="MONDO:equivalentTo"}
is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C96061"} ! small intestine neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272528
property_value: exactMatch NCIT:C96061

[Term]
id: MONDO:0002996
name: cavernous sinus meningioma
def: "A meningioma that affects the cavernous sinus." [NCIT:P378]
synonym: "cavernous sinus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of cavernous sinus" EXACT []
synonym: "meningioma of cavernous sinus" EXACT [NCIT:C5268]
synonym: "meningioma of the cavernous sinus" EXACT [DOID:4435, NCIT:C5268]
xref: DOID:4435 {source="MONDO:equivalentTo"}
xref: NCIT:C5268 {source="DOID:4435", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1332865 {source="DOID:4435", source="MONDO:equivalentTo", source="NCIT:C5268"}
is_a: MONDO:0002998 ! skull base meningioma
is_a: MONDO:0004634 ! vein disease
is_a: MONDO:0021080 ! blood vessel neoplasm
is_a: MONDO:0024499 ! vascular bone neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:4435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332865
property_value: exactMatch NCIT:C5268

[Term]
id: MONDO:0002997
name: anterior cranial fossa meningioma
def: "A meningioma that affects the anterior cranial fossa." [NCIT:P378]
synonym: "anterior cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "anterior fossa meningioma" EXACT [NCIT:C5286]
synonym: "meningioma (disease) of anterior cranial fossa" EXACT []
synonym: "meningioma of anterior cranial fossa" EXACT [NCIT:C5286]
synonym: "meningioma of anterior fossa" EXACT [NCIT:C5286]
synonym: "meningioma of the anterior cranial fossa" EXACT [NCIT:C5286]
synonym: "meningioma of the anterior fossa" EXACT [DOID:4436, NCIT:C5286]
xref: DOID:4436 {source="MONDO:equivalentTo"}
xref: NCIT:C5286 {source="MONDO:equivalentTo", source="DOID:4436", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332301 {source="NCIT:C5286", source="MONDO:equivalentTo", source="DOID:4436"}
is_a: MONDO:0016642 {source="DOID:4436", source="MONDO:Redundant", source="MONDOLEX:0002997", source="NCIT:C5286/inferred"} ! meningioma (disease)
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:4436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332301
property_value: exactMatch NCIT:C5286

[Term]
id: MONDO:0002998
name: skull base meningioma
def: "A meningioma that arises from the skull base." [NCIT:C5272]
synonym: "basicranium meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of basicranium" EXACT []
synonym: "meningioma of skull base" RELATED [NCIT:C5272]
synonym: "meningioma of the skull base" EXACT [DOID:4437, NCIT:C5272]
synonym: "skull base meningioma" EXACT [NCIT:C5272]
xref: DOID:4437 {source="MONDO:equivalentTo"}
xref: NCIT:C5272 {source="DOID:4437", source="MONDO:equivalentTo"}
xref: UMLS:C1335976 {source="NCIT:C5272", source="DOID:4437", source="MONDO:equivalentTo"}
is_a: MONDO:0002785 {source="DOID:4437", source="MONDO:Redundant", source="NCIT:C5272"} ! skull base neoplasm
is_a: MONDO:0016642 {source="MONDO:Redundant", source="MONDOLEX:0002998", source="NCIT:C5272/inferred", source="OWLReasoner:2017"} ! meningioma (disease)
property_value: exactMatch DOID:4437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335976
property_value: exactMatch NCIT:C5272

[Term]
id: MONDO:0002999
name: central nervous system germinoma
def: "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)" [NCIT:C7009]
subset: ordo_clinical_subtype {source="Orphanet:91352"}
synonym: "central nervous system germinoma" EXACT [NCIT:C7009]
synonym: "central nervous system germinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "germinoma of central nervous system" EXACT [NCIT:C7009]
synonym: "germinoma of CNS" EXACT [DOID:4438, NCIT:C7009]
synonym: "germinoma of the central nervous system" EXACT [MONDO:0019616, NCIT:C7009]
synonym: "germinoma of the CNS" EXACT [NCIT:C7009]
synonym: "intracranial germinoma" RELATED [Orphanet:91352]
xref: DOID:4438 {source="MONDO:equivalentTo"}
xref: NCIT:C7009 {source="MONDO:equivalentTo", source="DOID:4438"}
is_a: MONDO:0002714 {source="DOID:4438/inferred", source="MONDO:Redundant", source="NCIT:C7009/inferred"} ! central nervous system cancer
is_a: MONDO:0003000 {source="DOID:4438", source="MONDO:Redundant", source="NCIT:C7009/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0015935 ! extragonadal germinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333813
property_value: exactMatch DOID:4438
property_value: exactMatch NCIT:C7009

[Term]
id: MONDO:0003000
name: central nervous system germ cell tumor
def: "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." [NCIT:C5461]
synonym: "central nervous system germ cell neoplasm" EXACT [NCIT:C5461]
synonym: "central nervous system germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C5461]
synonym: "central nervous system rare germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "CNS germ cell neoplasm" EXACT [NCIT:C5461]
synonym: "CNS germ cell tumor" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of CNS" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of the central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of the CNS" EXACT [NCIT:C5461]
synonym: "germ cell tumor of central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell tumor of CNS" EXACT [NCIT:C5461]
synonym: "germ cell tumor of the central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell tumor of the CNS" EXACT [DOID:4439, NCIT:C5461]
xref: DOID:4439 {source="MONDO:equivalentTo"}
xref: NCIT:C5461 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:4439"}
xref: UMLS:C1332880 {source="NCIT:C5461", source="MONDO:equivalentTo", source="DOID:4439"}
is_a: MONDO:0006130 {source="MONDO:Redundant", source="MONDOLEX:0003000", source="NCIT:C5461"} ! central nervous system neoplasm
is_a: MONDO:0018201 {source="NCIT:C5461"} ! extragonadal germ cell tumor
property_value: exactMatch DOID:4439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332880
property_value: exactMatch NCIT:C5461

[Term]
id: MONDO:0003001
name: seminoma
def: "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." [NCIT:C9309]
synonym: "seminoma" EXACT [NCIT:C9309]
synonym: "seminoma, malignant" EXACT [NCIT:C9309]
synonym: "seminoma, pure" EXACT [DOID:4440, NCIT:C9309]
xref: DOID:4440 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9061/3 {source="NCIT:C9309"}
xref: MESH:D018239 {source="MONDO:equivalentTo", source="DOID:4440"}
xref: NCIT:C9309 {source="MONDO:equivalentTo", source="DOID:4440"}
xref: ONCOTREE:SEM {source="MONDO:equivalentTo"}
xref: SCTID:443675005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.36", source="DOID:4440"}
is_a: MONDO:0006290 {source="NCIT:C9309"} ! malignant germ cell tumor
is_a: MONDO:0020580 ! germinomatous germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/154532006
property_value: closeMatch http://identifiers.org/snomedct/188228003
property_value: closeMatch http://identifiers.org/snomedct/189840000
property_value: closeMatch http://identifiers.org/snomedct/189841001
property_value: closeMatch http://identifiers.org/snomedct/269603004
property_value: closeMatch http://identifiers.org/snomedct/36741007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036631
property_value: exactMatch DOID:4440
property_value: exactMatch http://identifiers.org/mesh/D018239
property_value: exactMatch http://identifiers.org/snomedct/443675005
property_value: exactMatch NCIT:C9309

[Term]
id: MONDO:0003002
name: dysgerminoma (disease)
def: "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." [NCIT:P378]
synonym: "dysgerminoma" EXACT [MONDO:ambiguous, NCIT:C2996]
synonym: "dysgerminoma, malignant" EXACT [NCIT:C2996]
xref: DOID:4441 {source="MONDO:equivalentTo"}
xref: HP:0100621 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9060/3 {source="NCIT:C2996"}
xref: MESH:D004407 {source="DOID:4441", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2996 {source="DOID:4441", source="MONDO:equivalentTo"}
xref: UMLS:C0013377 {source="DOID:4441", source="MONDO:equivalentTo", source="NCIT:C2996"}
is_a: MONDO:0006290 {source="NCIT:C2996"} ! malignant germ cell tumor
is_a: MONDO:0020580 ! germinomatous germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/60718004
property_value: exactMatch DOID:4441
property_value: exactMatch http://identifiers.org/mesh/D004407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013377
property_value: exactMatch NCIT:C2996

[Term]
id: MONDO:0003003
name: cervical alveolar soft part sarcoma
def: "An alveolar soft part sarcoma arising from the cervix." [NCIT:C40225]
xref: DOID:4442 {source="MONDO:equivalentTo"}
xref: NCIT:C40225 {source="DOID:4442", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516408 {source="DOID:4442", source="MONDO:equivalentTo", source="NCIT:C40225"}
is_a: MONDO:0011655 {source="MONDO:Redundant", source="MONDOLEX:0003003", source="NCIT:C40225"} ! alveolar soft part sarcoma (disease)
is_a: MONDO:0016280 ! sarcoma of cervix uteri
property_value: exactMatch DOID:4442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516408
property_value: exactMatch NCIT:C40225

[Term]
id: MONDO:0003004
name: macular degeneration
def: "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378]
synonym: "macula lutea retinal degeneration" EXACT [MONDO:patterns/location]
synonym: "macula retinal degeneration" EXACT [MONDO:patterns/location]
synonym: "macular degeneration of retina" EXACT [DOID:4448, MTHICD9_2006:362.50]
synonym: "retinal degeneration of macula lutea" EXACT [MONDO:design_pattern]
xref: DOID:4448 {source="MONDO:equivalentTo"}
xref: MESH:D008268 {source="DOID:4448", source="MONDO:equivalentTo"}
xref: NCIT:C123330 {source="MONDO:kboom-pr-0.93/0.86/0.09", source="DOID:4448", source="MONDO:equivalentTo"}
xref: SCTID:422338006 {source="DOID:4448", source="MONDO:equivalentTo"}
xref: UMLS:C0024437 {source="DOID:4448", source="MONDO:equivalentTo", source="NCIT:C123330"}
is_a: MONDO:0004580 {source="DOID:4448", source="MESH:D008268", source="MONDO:Redundant", source="NCIT:C123330", source="linkedlifedata"} ! retinal degeneration
relationship: disease_arises_from_feature MONDO:0004580 ! retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/302891003
property_value: exactMatch DOID:4448
property_value: exactMatch http://identifiers.org/mesh/D008268
property_value: exactMatch http://identifiers.org/snomedct/422338006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024437
property_value: exactMatch NCIT:C123330

[Term]
id: MONDO:0003005
name: macular retinal edema
def: "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." [NCIT:C35468]
synonym: "edema, macular" RELATED [NCIT:C35468]
synonym: "macula lutea retinal edema" EXACT [MONDO:patterns/location]
synonym: "macular edema" EXACT [CSP2005:1114-9311, DOID:4449, NCIT:C35468]
synonym: "retinal edema of macula lutea" EXACT [MONDO:design_pattern]
xref: DOID:4449 {source="MONDO:equivalentTo"}
xref: NCIT:C35468 {source="MONDO:equivalentTo", source="DOID:4449"}
xref: SCTID:37231002 {source="MONDO:equivalentTo", source="DOID:4449", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271051 {source="MONDO:equivalentTo", source="DOID:4449", source="NCIT:C35468"}
is_a: MONDO:0003004 ! macular degeneration
is_a: MONDO:0004037 ! retinal edema
property_value: closeMatch http://identifiers.org/mesh/D008269
property_value: exactMatch DOID:4449
property_value: exactMatch http://identifiers.org/snomedct/37231002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271051
property_value: exactMatch NCIT:C35468

[Term]
id: MONDO:0003006
name: obsolete Bartter disease
is_obsolete: true
replaced_by: MONDO:0015231

[Term]
id: MONDO:0003007
name: childhood kidney cell carcinoma
def: "A renal cell carcinoma that occurs during childhood." [NCIT:P378]
synonym: "childhood kidney cell carcinoma" EXACT [NCIT:C6568]
synonym: "childhood renal cell carcinoma" EXACT [NCIT:C6568]
synonym: "childhood renal cell carcinoma (disease)" EXACT []
synonym: "pediatric kidney cell carcinoma" EXACT [NCIT:C6568]
synonym: "pediatric renal cell carcinoma" EXACT [DOID:4454, NCIT:C6568]
synonym: "pediatric renal cell carcinoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric renal cell carcinoma (disease)" RELATED [MONDO:patterns/childhood]
synonym: "renal cell cancer" EXACT [NCIT:C6568]
synonym: "renal cell carcinoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
xref: DOID:4454 {source="MONDO:equivalentTo"}
xref: NCIT:C6568 {source="DOID:4454", source="MONDO:kboom-pr-0.96/0.91/0.32", source="MONDO:equivalentTo"}
xref: UMLS:C1333001 {source="DOID:4454", source="MONDO:equivalentTo", source="NCIT:C6568"}
is_a: MONDO:0005549 {source="MONDOLEX:0003007", source="NCIT:C6568"} ! renal cell adenocarcinoma
is_a: MONDO:0036511 ! childhood malignant kidney neoplasm
property_value: exactMatch DOID:4454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333001
property_value: exactMatch NCIT:C6568

[Term]
id: MONDO:0003008
name: hereditary renal cell carcinoma
def: "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0009571"}
synonym: "familial renal carcinoma" RELATED [MESH:C536851]
synonym: "hereditary renal carcinoma" RELATED []
synonym: "hereditary renal cell cancer" EXACT [NCIT:C39789]
synonym: "hereditary renal cell carcinoma" EXACT [NCIT:C39789]
synonym: "hereditary renal cell carcinoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:4455 {source="MONDO:equivalentTo"}
xref: GARD:0009571 {source="MONDO:equivalentTo"}
xref: MESH:C536851 {source="MONDO:equivalentTo"}
xref: NCIT:C39789 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:717736007 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005549 {source="MONDOLEX:0003008", source="NCIT:C39789"} ! renal cell adenocarcinoma
intersection_of: MONDO:0005086 ! renal cell carcinoma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931352
property_value: exactMatch DOID:4455
property_value: exactMatch http://identifiers.org/mesh/C536851
property_value: exactMatch http://identifiers.org/snomedct/717736007
property_value: exactMatch NCIT:C39789
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma xsd:anyURI {source="GARD:0009571"}

[Term]
id: MONDO:0003009
name: hyperaldosteronism
def: "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." [NCIT:P378]
synonym: "Cushing syndrome" EXACT EXCLUDE [DOID:446]
synonym: "Cushing's syndrome" EXACT EXCLUDE [DOID:446]
synonym: "primary hyperaldosteronism" RELATED [DOID:446]
xref: COHD:195213 {source="MONDO:equivalentTo"}
xref: DOID:446 {source="MONDO:equivalentTo"}
xref: ICD10:E26 {source="DOID:446", source="MONDO:equivalentTo"}
xref: ICD10:E26.9 {source="DOID:446"}
xref: ICD9:255.1 {source="DOID:446", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:255.10 {source="DOID:446", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006929 {source="DOID:446", source="MONDO:equivalentTo"}
xref: SCTID:88213004 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0020428 {source="DOID:446", source="MONDO:equivalentTo"}
is_a: MONDO:0006640 {source="DOID:446", source="MESH:D006929"} ! adrenal gland hyperfunction
property_value: closeMatch http://identifiers.org/snomedct/154709005
property_value: closeMatch http://identifiers.org/snomedct/190506003
property_value: closeMatch http://identifiers.org/snomedct/190509005
property_value: closeMatch http://identifiers.org/snomedct/267484005
property_value: exactMatch DOID:446
property_value: exactMatch http://identifiers.org/mesh/D006929
property_value: exactMatch http://identifiers.org/snomedct/88213004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020428
property_value: exactMatch NCIT:C113213

[Term]
id: MONDO:0003010
name: multilocular clear cell renal cell carcinoma
def: "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." [NCIT:C4524]
subset: ordo_histopathological_subtype {source="Orphanet:319287"}
synonym: "cystadenocarcinoma of kidney" EXACT [DOID:4463]
synonym: "MCRCC" EXACT [Orphanet:319287]
synonym: "multilocular clear cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell carcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell renal cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287]
synonym: "multilocular cystic clear cell renal cell neoplasm of low malignant potential" EXACT [MONDO:0017883]
synonym: "multilocular cystic renal cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular cystic renal cell cancer" EXACT [NCIT:C4524]
synonym: "multilocular cystic renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287]
synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [Orphanet:319287]
synonym: "renal cystadenocarcinoma" EXACT [DOID:4463, NCIT:C4524]
xref: DOID:4463 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="ORDO:319287/ntbt", source="Orphanet:319287"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8316/3 {source="NCIT:C4524"}
xref: NCIT:C4524 {source="DOID:4463", source="MONDO:equivalentTo"}
xref: Orphanet:319287 {source="MONDO:equivalentTo"}
xref: SCTID:254916002 {source="DOID:4463", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346249 {source="DOID:4463", source="MONDO:equivalentTo", source="NCIT:C4524"}
is_a: MONDO:0005005 ! clear cell renal carcinoma
property_value: exactMatch DOID:4463
property_value: exactMatch http://identifiers.org/snomedct/254916002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346249
property_value: exactMatch NCIT:C4524
property_value: exactMatch Orphanet:319287

[Term]
id: MONDO:0003011
name: mucinous tubular and spindle renal cell carcinoma
def: "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." [NCIT:C39807]
subset: ordo_disease {source="Orphanet:319322"}
synonym: "carcinoma, renal, tubular, malignant" EXACT [NCIT:C39807]
synonym: "mucinous tubular and spindle cell carcinoma of the kidney" EXACT [NCIT:C39807]
synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889]
synonym: "renal mucinous tubular spindle cell carcinoma" RELATED [ONCOTREE:MTSCC]
xref: DOID:4472 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="ORDO:319322/ntbt", source="Orphanet:319322"}
xref: ICDO:0000/0 {source="NCIT:C39807"}
xref: NCIT:C39807 {source="MONDO:equivalentTo", source="DOID:4472"}
xref: ONCOTREE:MTSCC {source="MONDO:equivalentTo"}
xref: Orphanet:319322 {source="MONDO:equivalentTo"}
xref: SCTID:764990003 {source="MONDO:equivalentTo"}
xref: UMLS:C1513719 {source="MONDO:equivalentTo", source="NCIT:C39807", source="DOID:4472"}
xref: UMLS:CN203939 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005086 {source="DOID:4472", source="MONDOLEX:0003011", source="ONCOTREE:MTSCC/inferred", source="Orphanet:319322"} ! renal cell carcinoma (disease)
is_a: MONDO:0021568 ! renal tubule disease
property_value: exactMatch DOID:4472
property_value: exactMatch http://identifiers.org/snomedct/764990003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203939
property_value: exactMatch NCIT:C39807
property_value: exactMatch Orphanet:319322

[Term]
id: MONDO:0003012
name: sarcomatoid renal cell carcinoma
def: "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." [NCIT:C27893]
synonym: "RCC w/ sarcomatoid features" EXACT [NCIT:C27893]
synonym: "renal cell carcinoma with sarcomatoid features" EXACT [NCIT:C27893]
synonym: "renal cell carcinoma, spindle cell" EXACT [DOID:4473]
synonym: "sarcomatoid renal cell cancer" EXACT [NCIT:C27893]
synonym: "sarcomatoid renal cell carcinoma" EXACT [NCIT:C27893]
synonym: "SRCC" RELATED [ONCOTREE:SRCC]
xref: DOID:4473 {source="MONDO:equivalentTo"}
xref: ICDO:8318/3 {source="NCIT:C27893"}
xref: NCIT:C27893 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4473"}
xref: ONCOTREE:SRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1266043 {source="NCIT:C27893", source="MONDO:equivalentTo", source="DOID:4473"}
is_a: MONDO:0005549 {source="MONDOLEX:0003012", source="NCIT:C27893"} ! renal cell adenocarcinoma
is_a: MONDO:0006406 {source="NCIT:C27893"} ! sarcomatoid carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128668003
property_value: exactMatch DOID:4473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266043
property_value: exactMatch NCIT:C27893

[Term]
id: MONDO:0003013
name: obsolete pseudohypoaldosteronism
is_obsolete: true
replaced_by: MONDO:0018638

[Term]
id: MONDO:0003014
name: rhinitis
def: "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." [NCIT:C34986]
synonym: "inflammation of nasal cavity mucosa" EXACT []
synonym: "nasal cavity mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "runny nose" RELATED [DOID:4483]
xref: DOID:4483 {source="MONDO:equivalentTo"}
xref: EFO:0008521 {source="MONDO:equivalentTo"}
xref: ICD10:J30 {source="MONDO:equivalentTo"}
xref: MESH:D012220 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4483"}
xref: NCIT:C34986 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.14", source="DOID:4483"}
xref: SCTID:70076002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4483"}
xref: UMLS:C0035455 {source="MONDO:equivalentTo", source="NCIT:C34986", source="DOID:4483"}
is_a: MONDO:0002232 {source="DOID:4483", source="NCIT:C34986/inferred", source="linkedlifedata"} ! nasal cavity disease
is_a: MONDO:0020579 ! mucositis
property_value: exactMatch DOID:4483
property_value: exactMatch http://identifiers.org/mesh/D012220
property_value: exactMatch http://identifiers.org/snomedct/70076002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035455
property_value: exactMatch NCIT:C34986

[Term]
id: MONDO:0003015
name: obsolete malignant biphasic mesothelioma
def: "A malignant form of malignant biphasic mesothelioma." [MONDO:patterns/malignant]
synonym: "malignant biphasic mesothelioma, malignant" EXACT [MONDO:patterns/malignant]
is_obsolete: true
replaced_by: MONDO:0006109

[Term]
id: MONDO:0003016
name: obsolete sarcomatoid mesothelioma
is_obsolete: true
replaced_by: MONDO:0006407

[Term]
id: MONDO:0003017
name: malignant peritoneal solitary fibrous tumor
def: "A malignant form of peritoneal solitary fibrous tumor." [MONDO:patterns/malignant]
synonym: "peritoneal solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490, NCIT:C6893]
xref: DOID:4490 {source="MONDO:equivalentTo"}
is_a: MONDO:0002087 ! peritoneum cancer
is_a: MONDO:0002176 ! connective tissue cancer
is_a: MONDO:0037737 ! peritoneal solitary fibrous tumor
property_value: exactMatch DOID:4490

[Term]
id: MONDO:0003018
name: obsolete myotonic disease
is_obsolete: true
replaced_by: MONDO:0016107

[Term]
id: MONDO:0003019
name: potassium deficiency disease
def: "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." [NCIT:P378]
comment: Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT
synonym: "hypokalemia" EXACT [MONDO:ambiguous]
synonym: "hypopotassemia" RELATED [DOID:4500]
synonym: "potassium deficiency disorder" RELATED [DOID:4500]
xref: COHD:437833 {source="MONDO:equivalentTo"}
xref: DOID:4500 {source="MONDO:equivalentTo"}
xref: HP:0002900 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E87.6 {source="MONDO:equivalentTo"}
xref: ICD9:276.8 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007008 {source="DOID:4500", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34939 {source="DOID:4500", source="MONDO:equivalentTo"}
xref: SCTID:43339004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
xref: UMLS:C1514284 {source="DOID:4500", source="NCIT:C34939", source="MONDO:equivalentTo"}
is_a: MONDO:0000226 {source="DOID:4500"} ! mineral metabolism disease
is_a: MONDO:0005137 {source="NCIT:C34939"} ! nutritional disorder
property_value: exactMatch DOID:4500
property_value: exactMatch http://identifiers.org/mesh/D007008
property_value: exactMatch http://identifiers.org/snomedct/43339004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514284
property_value: exactMatch NCIT:C34939
property_value: exactMatch NCIT:C37974

[Term]
id: MONDO:0003020
name: obsolete orofaciodigital syndrome
is_obsolete: true
replaced_by: MONDO:0015375

[Term]
id: MONDO:0003021
name: central nervous system angiosarcoma
def: "A malignant vascular neoplasm arising from the brain, spinal cord or meninges." [NCIT:C5450]
synonym: "angiosarcoma (disease) of central nervous system" EXACT []
synonym: "angiosarcoma of central nervous system" EXACT [NCIT:C5450]
synonym: "angiosarcoma of CNS" EXACT [NCIT:C5450]
synonym: "angiosarcoma of the central nervous system" EXACT [NCIT:C5450]
synonym: "angiosarcoma of the CNS" EXACT [NCIT:C5450]
synonym: "central nervous system angiosarcoma" EXACT [NCIT:C5450]
synonym: "central nervous system angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "central nervous system hemangiosarcoma" EXACT [NCIT:C5450]
synonym: "CNS angiosarcoma" EXACT [NCIT:C5450]
synonym: "CNS hemangiosarcoma" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of central nervous system" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of CNS" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of the central nervous system" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of the CNS" EXACT [DOID:4504, NCIT:C5450]
xref: DOID:4504 {source="MONDO:equivalentTo"}
xref: NCIT:C5450 {source="MONDO:equivalentTo", source="DOID:4504", source="exact-label-match"}
xref: UMLS:C1332875 {source="NCIT:C5450", source="MONDO:equivalentTo", source="DOID:4504"}
is_a: MONDO:0002217 {source="DOID:4504", source="MONDO:Redundant", source="NCIT:C5450"} ! central nervous system sarcoma
is_a: MONDO:0016982 {source="DOID:4504", source="MONDO:Redundant", source="NCIT:C5450/inferred"} ! angiosarcoma (disease)
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:4504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332875
property_value: exactMatch NCIT:C5450

[Term]
id: MONDO:0003022
name: pediatric angiosarcoma
def: "An angiosarcoma occurring in childhood." [NCIT:P378]
synonym: "angiosarcoma" EXACT [NCIT:C9174]
synonym: "angiosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "childhood angiosarcoma" EXACT [NCIT:C9174]
synonym: "childhood angiosarcoma (disease)" EXACT []
synonym: "childhood hemangiosarcoma" EXACT [NCIT:C9174]
synonym: "pediatric angiosarcoma" EXACT [NCIT:C9174]
synonym: "pediatric angiosarcoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric angiosarcoma (disease)" RELATED [MONDO:patterns/childhood]
synonym: "pediatric hemangiosarcoma" EXACT [DOID:4505, NCIT:C9174]
xref: DOID:4505 {source="MONDO:equivalentTo"}
xref: NCIT:C9174 {source="MONDO:equivalentTo", source="DOID:4505", source="MONDO:kboom-pr-0.96/0.91/0.18"}
xref: UMLS:C0279988 {source="MONDO:equivalentTo", source="DOID:4505", source="NCIT:C9174"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0016982 {source="DOID:4505", source="MONDO:Redundant", source="NCIT:C9174"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279988
property_value: exactMatch NCIT:C9174

[Term]
id: MONDO:0003023
name: aorta angiosarcoma
def: "A malignant vascular neoplasm arising from the aorta." [NCIT:P378]
synonym: "angiosarcoma (disease) of aorta" EXACT []
synonym: "angiosarcoma of aorta" EXACT [NCIT:C5376]
synonym: "angiosarcoma of the aorta" EXACT [NCIT:C5376]
synonym: "aorta angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "aortic angiosarcoma" EXACT [NCIT:C5376]
synonym: "aortic hemangiosarcoma" EXACT [DOID:4510, NCIT:C5376]
synonym: "hemangiosarcoma of aorta" EXACT [NCIT:C5376]
synonym: "hemangiosarcoma of the aorta" EXACT [NCIT:C5376]
xref: DOID:4510 {source="MONDO:equivalentTo"}
xref: NCIT:C5376 {source="DOID:4510", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1332312 {source="DOID:4510", source="NCIT:C5376", source="MONDO:equivalentTo"}
is_a: MONDO:0004539 ! aortic malignant tumor
is_a: MONDO:0016982 {source="DOID:4510", source="MONDO:Redundant", source="NCIT:C5376/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332312
property_value: exactMatch NCIT:C5376

[Term]
id: MONDO:0003024
name: breast angiosarcoma
def: "A malignant vascular neoplasm arising from the breast." [NCIT:C5184]
subset: gard_rare {source="GARD:0009974"}
synonym: "angiosarcoma (disease) of breast" EXACT []
synonym: "angiosarcoma of breast" EXACT [NCIT:C5184]
synonym: "angiosarcoma of the breast" EXACT [NCIT:C5184]
synonym: "BA" RELATED [ONCOTREE:BA]
synonym: "breast angiosarcoma" EXACT [NCIT:C5184]
synonym: "breast angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "breast hemangiosarcoma" EXACT [NCIT:C5184]
synonym: "hemangiosarcoma of breast" EXACT [NCIT:C5184]
synonym: "hemangiosarcoma of the breast" EXACT [DOID:4511, NCIT:C5184]
xref: DOID:4511 {source="MONDO:equivalentTo"}
xref: GARD:0009974 {source="MONDO:equivalentTo"}
xref: MESH:C536368 {source="DOID:4511", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C5184 {source="DOID:4511", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:BA {source="MONDO:equivalentTo"}
xref: UMLS:C1332614 {source="NCIT:C5184", source="DOID:4511", source="MONDO:equivalentTo"}
is_a: MONDO:0002490 {source="DOID:4511", source="MONDO:Redundant", source="NCIT:C5184", source="ONCOTREE:BA"} ! breast sarcoma
is_a: MONDO:0016982 {source="DOID:4511", source="MESH:C536368", source="MONDO:Redundant", source="NCIT:C5184/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4511
property_value: exactMatch http://identifiers.org/mesh/C536368
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332614
property_value: exactMatch NCIT:C5184
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast xsd:anyURI {source="GARD:0009974"}

[Term]
id: MONDO:0003025
name: conventional angiosarcoma
def: "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." [NCIT:C9426]
synonym: "conventional angiosarcoma" EXACT [NCIT:C9426]
xref: DOID:4512 {source="MONDO:equivalentTo"}
xref: NCIT:C9426 {source="DOID:4512", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333155 {source="DOID:4512", source="MONDO:equivalentTo", source="NCIT:C9426"}
is_a: MONDO:0016982 {source="DOID:4512", source="NCIT:C9426"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333155
property_value: exactMatch NCIT:C9426

[Term]
id: MONDO:0003026
name: gallbladder angiosarcoma
def: "An angiosarcoma that is located in the gallbladder." [MONDO:DesignPattern]
synonym: "angiosarcoma (disease) of gall bladder" EXACT []
synonym: "angiosarcoma of gallbladder" EXACT [NCIT:C5840]
synonym: "angiosarcoma of the gallbladder" EXACT [NCIT:C5840]
synonym: "gall bladder angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder angiosarcoma" EXACT [NCIT:C5840]
synonym: "gallbladder hemangiosarcoma" EXACT [NCIT:C5840]
synonym: "hemangiosarcoma of gallbladder" EXACT [DOID:4513, NCIT:C5840]
synonym: "hemangiosarcoma of the gallbladder" EXACT [NCIT:C5840]
xref: DOID:4513 {source="MONDO:equivalentTo"}
xref: NCIT:C5840 {source="MONDO:equivalentTo", source="DOID:4513", source="exact-label-match"}
xref: UMLS:C1333742 {source="MONDO:equivalentTo", source="NCIT:C5840", source="DOID:4513"}
is_a: MONDO:0002857 {source="DOID:4513", source="MONDO:Redundant", source="MONDOLEX:0003026", source="NCIT:C5840"} ! gallbladder sarcoma
is_a: MONDO:0016982 ! angiosarcoma (disease)
property_value: exactMatch DOID:4513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333742
property_value: exactMatch NCIT:C5840

[Term]
id: MONDO:0003027
name: thyroid gland angiosarcoma
def: "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter." [NCIT:C6043]
synonym: "angiosarcoma (disease) of thyroid gland" EXACT []
synonym: "angiosarcoma of the thyroid" EXACT [NCIT:C6043]
synonym: "angiosarcoma of the thyroid gland" EXACT [NCIT:C6043]
synonym: "angiosarcoma of thyroid" EXACT [NCIT:C6043]
synonym: "angiosarcoma of thyroid gland" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of the thyroid" EXACT [DOID:4514, NCIT:C6043]
synonym: "hemangiosarcoma of the thyroid gland" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of thyroid" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of thyroid gland" EXACT [NCIT:C6043]
synonym: "thyroid angiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland angiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "thyroid gland hemangiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland malignant hemangioendothelioma" EXACT [NCIT:C6043]
synonym: "thyroid hemangiosarcoma" EXACT [NCIT:C6043]
xref: DOID:4514 {source="MONDO:equivalentTo"}
xref: NCIT:C6043 {source="DOID:4514", source="MONDO:equivalentTo"}
xref: UMLS:C1336748 {source="NCIT:C6043", source="DOID:4514", source="MONDO:equivalentTo"}
is_a: MONDO:0003028 {source="DOID:4514", source="MONDO:Redundant", source="NCIT:C6043"} ! thyroid sarcoma
is_a: MONDO:0016982 {source="DOID:4514", source="MONDO:Redundant", source="NCIT:C6043/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336748
property_value: exactMatch NCIT:C6043

[Term]
id: MONDO:0003028
name: thyroid sarcoma
def: "A malignant soft tissue neoplasm primarily involving the thyroid gland." [NCIT:C6041]
synonym: "sarcoma of the thyroid" EXACT [NCIT:C6041]
synonym: "sarcoma of the thyroid gland" EXACT [DOID:4515, NCIT:C6041]
synonym: "sarcoma of thyroid" EXACT [NCIT:C6041]
synonym: "sarcoma of thyroid gland" EXACT [MONDO:patterns/sarcoma, NCIT:C6041]
synonym: "thyroid gland sarcoma" EXACT [MONDO:patterns/location, NCIT:C6041]
synonym: "thyroid sarcoma" EXACT [NCIT:C6041]
xref: DOID:4515 {source="MONDO:equivalentTo"}
xref: EFO:1001971 {source="MONDO:equivalentTo"}
xref: NCIT:C6041 {source="MONDO:equivalentTo", source="DOID:4515"}
xref: UMLS:C1336756 {source="MONDO:equivalentTo", source="DOID:4515", source="NCIT:C6041"}
is_a: MONDO:0002108 {source="DOID:4515", source="MONDO:Redundant", source="NCIT:C6041"} ! thyroid cancer
is_a: MONDO:0018078 {source="NCIT:C6041"} ! soft tissue sarcoma
property_value: exactMatch DOID:4515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336756
property_value: exactMatch NCIT:C6041

[Term]
id: MONDO:0003029
name: skin angiosarcoma
def: "A malignant vascular neoplasm arising from the skin." [NCIT:C4489]
synonym: "angiosarcoma (disease) of zone of skin" EXACT []
synonym: "angiosarcoma of skin" EXACT [NCIT:C4489]
synonym: "angiosarcoma of the skin" EXACT [NCIT:C4489]
synonym: "hemangiosarcoma of skin" EXACT [NCIT:C4489]
synonym: "hemangiosarcoma of the skin" EXACT [DOID:4517, NCIT:C4489]
synonym: "skin angiosarcoma" EXACT [NCIT:C4489]
synonym: "skin hemangiosarcoma" EXACT [NCIT:C4489]
synonym: "zone of skin angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4517 {source="MONDO:equivalentTo"}
xref: NCIT:C4489 {source="MONDO:equivalentTo", source="DOID:4517", source="exact-label-match"}
xref: SCTID:254794007 {source="MONDO:equivalentTo", source="DOID:4517", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346081 {source="MONDO:equivalentTo", source="NCIT:C4489", source="DOID:4517"}
is_a: MONDO:0006414 {source="DOID:4517", source="MONDO:Redundant", source="NCIT:C4489"} ! skin sarcoma
is_a: MONDO:0016982 {source="DOID:4517", source="MONDO:Redundant", source="NCIT:C4489", source="linkedlifedata"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4517
property_value: exactMatch http://identifiers.org/snomedct/254794007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346081
property_value: exactMatch NCIT:C4489

[Term]
id: MONDO:0003030
name: endometrioid stromal sarcoma of the cervix
def: "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40220]
synonym: "cervical endometrial stromal sarcoma" RELATED [DOID:4520]
synonym: "endometrial stromal sarcoma of the cervix" EXACT [DOID:4520]
synonym: "endometrioid stromal sarcoma of the cervix" EXACT [NCIT:C40220]
synonym: "endometrioid stromal sarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix endometrioid stromal sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4520 {source="MONDO:equivalentTo"}
xref: NCIT:C40220 {source="DOID:4520", source="MONDO:equivalentTo"}
xref: UMLS:C3642326 {source="MEDGEN:kboom-pr98-c99", source="DOID:4520", source="MONDO:equivalentTo", source="NCIT:C40220"}
is_a: MONDO:0003031 {source="DOID:4520"} ! endometrioid stromal and related neoplasms of the cervix
is_a: MONDO:0006745 ! endometrioid stromal sarcoma
is_a: MONDO:0016280 ! sarcoma of cervix uteri
property_value: exactMatch DOID:4520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642326
property_value: exactMatch NCIT:C40220

[Term]
id: MONDO:0003031
name: endometrioid stromal and related neoplasms of the cervix
def: "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40218]
synonym: "cervix endometrial stromal tumor" RELATED [DOID:4521]
synonym: "endometrioid stromal and related neoplasms of the cervix" EXACT [NCIT:C40218]
synonym: "endometrioid stromal and related tumors of the cervix" EXACT [NCIT:C40218]
xref: DOID:4521 {source="MONDO:equivalentTo"}
xref: NCIT:C40218 {source="DOID:4521", source="MONDO:equivalentTo"}
xref: UMLS:C4289586 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021148 {source="NCIT:C40218/inferred"} ! female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0002974 {source="DOID:4521"} ! cervical cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642325
property_value: exactMatch DOID:4521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289586
property_value: exactMatch NCIT:C40218

[Term]
id: MONDO:0003032
name: superior vena cava angiosarcoma
def: "A malignant vascular neoplasm arising from the superior vena cava." [NCIT:C5378]
synonym: "angiosarcoma (disease) of anterior vena cava" EXACT []
synonym: "angiosarcoma of Superior vena cava" EXACT [NCIT:C5378]
synonym: "angiosarcoma of the Superior vena cava" EXACT [DOID:4522, NCIT:C5378]
synonym: "anterior vena cava angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4522 {source="MONDO:equivalentTo"}
xref: NCIT:C5378 {source="DOID:4522", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336530 {source="DOID:4522", source="MONDO:equivalentTo", source="NCIT:C5378"}
is_a: MONDO:0004634 {source="DOID:4522", source="MONDO:Entailed", source="MONDO:Redundant"} ! vein disease
is_a: MONDO:0016982 {source="DOID:4522", source="MONDO:Redundant", source="NCIT:C5378/inferred"} ! angiosarcoma (disease)
is_a: MONDO:0040676 ! great vessel cancer
property_value: exactMatch DOID:4522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336530
property_value: exactMatch NCIT:C5378

[Term]
id: MONDO:0003033
name: prostate angiosarcoma
def: "A malignant vascular neoplasm arising from the prostate." [NCIT:C5528]
synonym: "angiosarcoma (disease) of prostate gland" EXACT []
synonym: "angiosarcoma of prostate" EXACT [NCIT:C5528]
synonym: "angiosarcoma of the prostate" EXACT [NCIT:C5528]
synonym: "hemangiosarcoma of prostate" EXACT [NCIT:C5528]
synonym: "hemangiosarcoma of the prostate" EXACT [NCIT:C5528]
synonym: "prostate angiosarcoma" EXACT [NCIT:C5528]
synonym: "prostate gland angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate hemangiosarcoma" EXACT [NCIT:C5528]
synonym: "prostatic angiosarcoma" EXACT [NCIT:C5528]
synonym: "prostatic hemangiosarcoma" EXACT [DOID:4524, NCIT:C5528]
xref: DOID:4524 {source="MONDO:equivalentTo"}
xref: NCIT:C5528 {source="MONDO:equivalentTo", source="DOID:4524", source="exact-label-match"}
xref: UMLS:C1335504 {source="MONDO:equivalentTo", source="DOID:4524", source="NCIT:C5528"}
is_a: MONDO:0002854 {source="DOID:4524", source="MONDO:Redundant", source="NCIT:C5528"} ! prostate sarcoma
is_a: MONDO:0016982 {source="DOID:4524", source="MONDO:Redundant", source="NCIT:C5528/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335504
property_value: exactMatch NCIT:C5528

[Term]
id: MONDO:0003034
name: mediastinum angiosarcoma
def: "A malignant vascular neoplasm arising from the mediastinum." [NCIT:P378]
synonym: "angiosarcoma (disease) of mediastinum" EXACT []
synonym: "angiosarcoma of mediastinum" EXACT [NCIT:C6613]
synonym: "angiosarcoma of the mediastinum" EXACT [NCIT:C6613]
synonym: "hemangiosarcoma of mediastinum" EXACT [DOID:4525, NCIT:C6613]
synonym: "hemangiosarcoma of the mediastinum" EXACT [NCIT:C6613]
synonym: "mediastinal angiosarcoma" EXACT [NCIT:C6613]
synonym: "mediastinal hemangiosarcoma" EXACT [NCIT:C6613]
synonym: "mediastinum angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4525 {source="MONDO:equivalentTo"}
xref: NCIT:C6613 {source="DOID:4525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334649 {source="DOID:4525", source="MONDO:equivalentTo", source="NCIT:C6613"}
is_a: MONDO:0002852 {source="DOID:4525", source="MONDO:Redundant", source="NCIT:C6613"} ! mediastinum sarcoma
is_a: MONDO:0016982 {source="DOID:4525", source="MONDO:Redundant", source="NCIT:C6613/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4525
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334649
property_value: exactMatch NCIT:C6613

[Term]
id: MONDO:0003035
name: ovarian angiosarcoma
def: "A malignant vascular neoplasm arising from the ovary." [NCIT:C5232]
synonym: "angiosarcoma (disease) of ovary" EXACT []
synonym: "angiosarcoma of ovary" EXACT [NCIT:C5232]
synonym: "angiosarcoma of the ovary" EXACT [NCIT:C5232]
synonym: "hemangiosarcoma of ovary" EXACT [DOID:4527, NCIT:C5232]
synonym: "hemangiosarcoma of the ovary" EXACT [NCIT:C5232]
synonym: "ovarian hemangiosarcoma" EXACT [NCIT:C5232]
synonym: "ovary angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4527 {source="MONDO:equivalentTo"}
xref: NCIT:C5232 {source="MONDO:equivalentTo", source="DOID:4527", source="exact-label-match"}
xref: UMLS:C1335152 {source="NCIT:C5232", source="MONDO:equivalentTo", source="DOID:4527"}
is_a: MONDO:0002225 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232"} ! ovarian sarcoma
is_a: MONDO:0016982 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232/inferred"} ! angiosarcoma (disease)
property_value: exactMatch DOID:4527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335152
property_value: exactMatch NCIT:C5232

[Term]
id: MONDO:0003036
name: mucoepidermoid carcinoma
def: "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." [NCIT:C3772]
comment: Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes
subset: gard_rare {source="GARD:0010671"}
synonym: "MEC" EXACT [DOID:4531, NCIT:C3772]
synonym: "MUCC" RELATED [ONCOTREE:MUCC]
synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772]
synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [DOID:4531]
synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298]
synonym: "mucoepidermoid tumors" RELATED [MESH:D018298]
synonym: "tumor, mucoepidermoid" RELATED [MESH:D018298]
synonym: "tumors, mucoepidermoid" RELATED [MESH:D018298]
xref: DOID:4531 {source="MONDO:equivalentTo"}
xref: EFO:1001049 {source="MONDO:equivalentTo"}
xref: GARD:0010671 {source="MONDO:equivalentTo"}
xref: ICDO:8430/1 {source="NCIT:C3772"}
xref: ICDO:8430/3 {source="NCIT:C3772"}
xref: MESH:D018277 {source="DOID:4531", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:D018298 {source="MONDO:equivalentTo", source="EFO:1001049", source="MONDO:ontobio"}
xref: NCIT:C3772 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MUCC {source="MONDO:equivalentTo"}
xref: UMLS:C0206694 {source="DOID:4531", source="MONDO:equivalentTo", source="NCIT:C3772"}
is_a: MONDO:0004957 ! mucinous adenocarcinoma
is_a: MONDO:0006720 {source="MESH:D018298"} ! cystic, mucinous, and serous neoplasm
property_value: closeMatch DOID:163
property_value: closeMatch http://identifiers.org/snomedct/39892006
property_value: closeMatch http://identifiers.org/snomedct/4079000
property_value: exactMatch DOID:4531
property_value: exactMatch http://identifiers.org/mesh/D018277
property_value: exactMatch http://identifiers.org/mesh/D018298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206694
property_value: exactMatch NCIT:C3772
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma xsd:anyURI {source="GARD:0010671"}

[Term]
id: MONDO:0003037
name: hypotrichosis
def: "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." [NCIT:P378]
xref: DOID:4535 {source="MONDO:equivalentTo"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007039 {source="MONDO:equivalentTo", source="DOID:4535", source="MONDO:ontobio"}
xref: NCIT:C34720 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4535"}
xref: OMIMPS:605389 {source="MONDO:equivalentTo", source="DOID:4535"}
xref: SCTID:53602002 {source="MONDO:equivalentTo", source="DOID:4535", source="MONDO:kboom-pr-1.00/0.84/14.11"}
is_a: MONDO:0002917 {source="DOID:4535", source="MESH:D007039", source="NCIT:C34720/inferred"} ! disease of pilosebaceous unit
property_value: closeMatch http://identifiers.org/snomedct/56558005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020678
property_value: exactMatch DOID:4535
property_value: exactMatch http://identifiers.org/mesh/D007039
property_value: exactMatch http://identifiers.org/snomedct/53602002
property_value: exactMatch NCIT:C34720

[Term]
id: MONDO:0003038
name: dysgraphia (disease)
def: "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" [MESH:D000381]
synonym: "dysgraphia" EXACT [MONDO:ambiguous]
xref: DOID:4540 {source="MONDO:equivalentTo"}
xref: HP:0010526 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:R48.8 {source="DOID:4540"}
is_a: MONDO:0000599 {source="DOID:4540"} ! writing disorder
property_value: closeMatch http://identifiers.org/mesh/D000381
property_value: closeMatch http://identifiers.org/snomedct/158321001
property_value: closeMatch http://identifiers.org/snomedct/206990000
property_value: closeMatch http://identifiers.org/snomedct/27206009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001825
property_value: exactMatch DOID:4540

[Term]
id: MONDO:0003039
name: nominal aphasia
def: "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people." [NCIT:P378]
synonym: "anomia" EXACT [CSP2005:1579-3166, DOID:4541]
synonym: "anomic aphasia" EXACT [DOID:4541]
synonym: "anomic aphasia (finding)" EXACT [DOID:4541]
xref: DOID:4541 {source="MONDO:equivalentTo"}
xref: MESH:D000849 {source="DOID:4541", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0000598 {source="DOID:4541"} ! aphasia
property_value: closeMatch http://identifiers.org/snomedct/10325006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003113
property_value: exactMatch DOID:4541
property_value: exactMatch http://identifiers.org/mesh/D000849
property_value: exactMatch NCIT:C34386

[Term]
id: MONDO:0003040
name: retrograde amnesia
def: "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." [NCIT:P378]
xref: COHD:4198081 {source="MONDO:equivalentTo"}
xref: DOID:4543 {source="MONDO:equivalentTo"}
xref: ICD10:R41.2 {source="DOID:4543", source="MONDO:equivalentTo"}
xref: MESH:D000648 {source="DOID:4543", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0001152 {source="DOID:4543"} ! amnestic disorder
property_value: closeMatch http://identifiers.org/snomedct/158178004
property_value: closeMatch http://identifiers.org/snomedct/206784007
property_value: closeMatch http://identifiers.org/snomedct/51921000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002624
property_value: exactMatch DOID:4543
property_value: exactMatch http://identifiers.org/mesh/D000648
property_value: exactMatch NCIT:C34372

[Term]
id: MONDO:0003041
name: pediatric mesenchymal chondrosarcoma
def: "A mesenchymal chondrosarcoma occurring in children." [NCIT:P378]
synonym: "childhood mesenchymal chondrosarcoma" EXACT [NCIT:C27374]
synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C27374]
synonym: "mesenchymal chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mesenchymal chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27374]
xref: DOID:4546 {source="MONDO:equivalentTo"}
xref: NCIT:C27374 {source="MONDO:equivalentTo", source="DOID:4546", source="MONDO:kboom-pr-0.99/0.75/4.32"}
xref: UMLS:C1332982 {source="NCIT:C27374", source="MONDO:equivalentTo", source="DOID:4546"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0006853 {source="DOID:4546", source="MONDO:Redundant", source="MONDOLEX:0003041", source="NCIT:C27374"} ! mesenchymal chondrosarcoma
property_value: exactMatch DOID:4546
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332982
property_value: exactMatch NCIT:C27374

[Term]
id: MONDO:0003042
name: adult mesenchymal chondrosarcoma
def: "A mesenchymal chondrosarcoma occurring in adults." [NCIT:C27375]
synonym: "adult mesenchymal chondrosarcoma" EXACT [NCIT:C27375]
synonym: "mesenchymal chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:4547 {source="MONDO:equivalentTo"}
xref: NCIT:C27375 {source="DOID:4547", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332207 {source="NCIT:C27375", source="DOID:4547", source="MONDO:equivalentTo"}
is_a: MONDO:0006853 {source="DOID:4547", source="MONDO:Redundant", source="MONDOLEX:0003042", source="NCIT:C27375"} ! mesenchymal chondrosarcoma
property_value: exactMatch DOID:4547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332207
property_value: exactMatch NCIT:C27375

[Term]
id: MONDO:0003043
name: extraskeletal mesenchymal chondrosarcoma
def: "A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." [NCIT:P378]
synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [DOID:4548, NCIT:C27481]
synonym: "mesenchymal extraskeletal chondrosarcoma" EXACT [NCIT:C27481]
xref: DOID:4548 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27481 {source="MONDO:equivalentTo", source="DOID:4548", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:404080006 {source="MONDO:equivalentTo", source="DOID:4548", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1275279 {source="MONDO:equivalentTo", source="DOID:4548", source="NCIT:C27481"}
is_a: MONDO:0003044 {source="DOID:4548", source="MONDOLEX:0003043"} ! extraosseous chondrosarcoma
property_value: exactMatch DOID:4548
property_value: exactMatch http://identifiers.org/snomedct/404080006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275279
property_value: exactMatch NCIT:C27481

[Term]
id: MONDO:0003044
name: extraosseous chondrosarcoma
def: "A chondrosarcoma that is located_in exclusively soft tissue." [DOID:4549, PMID:16084955]
comment: Editor note: TODO merge with MONDO:0012825
xref: DOID:4549 {source="MONDO:equivalentTo"}
is_a: MONDO:0008977 {source="DOID:4549", source="MONDOLEX:0003044"} ! chondrosarcoma (disease)
property_value: exactMatch DOID:4549

[Term]
id: MONDO:0003045
name: anal gland neoplasm
def: "Tumors or cancer of the anal gland." [MESH:D000694]
synonym: "gland of anal canal neoplasm" EXACT []
synonym: "gland of anal canal neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gland of anal canal tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of gland of anal canal" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of gland of anal canal" EXACT [MONDO:patterns/neoplasm]
xref: DOID:4550 {source="MONDO:equivalentTo"}
xref: EFO:1000804 {source="MONDO:equivalentTo"}
xref: MESH:D000694 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4550"}
xref: UMLS:C0002757 {source="MONDO:equivalentTo", source="DOID:4550"}
is_a: MONDO:0003046 {source="DOID:4550", source="EFO:1000804", source="MESH:D000694"} ! anus neoplasm
property_value: exactMatch DOID:4550
property_value: exactMatch http://identifiers.org/mesh/D000694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002757

[Term]
id: MONDO:0003046
name: anus neoplasm
def: "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma." [NCIT:P378]
synonym: "anal neoplasm" EXACT [CSP2005:2010-1432, DOID:4551, NCIT:C2877]
synonym: "anal neoplasms, benign and malignant" EXACT [NCIT:C2877]
synonym: "anal tumor" EXACT [NCIT:C2877]
synonym: "anal tumors" EXACT [DOID:4551, NCIT:C2877]
synonym: "anus neoplasm" EXACT [NCIT:C2877]
synonym: "anus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "anus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of anus" EXACT [DOID:4551, MONDO:patterns/neoplasm, NCIT:C2877]
synonym: "neoplasm of the anus" EXACT [NCIT:C2877]
synonym: "tumor of anus" EXACT [MONDO:patterns/neoplasm, NCIT:C2877]
synonym: "tumor of the anus" EXACT [NCIT:C2877]
xref: DOID:4551 {source="MONDO:equivalentTo"}
xref: EFO:0003835 {source="MONDO:equivalentTo"}
xref: MESH:D001005 {source="DOID:4551", source="MONDO:equivalentTo"}
xref: NCIT:C2877 {source="DOID:4551", source="MONDO:kboom-pr-0.99/0.91/3.46", source="MONDO:equivalentTo"}
xref: SCTID:126849006 {source="DOID:4551", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0003463 {source="DOID:4551", source="MONDO:equivalentTo", source="NCIT:C2877"}
is_a: MONDO:0002165 {source="MESH:D001005", source="MONDO:Redundant"} ! rectal neoplasm
is_a: MONDO:0002519 {source="MESH:D001005", source="MONDO:Redundant", source="NCIT:C2877", source="linkedlifedata"} ! anus disease
property_value: exactMatch DOID:4551
property_value: exactMatch http://identifiers.org/mesh/D001005
property_value: exactMatch http://identifiers.org/snomedct/126849006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003463
property_value: exactMatch NCIT:C2877

[Term]
id: MONDO:0003047
name: thymic large cell neuroendocrine carcinoma
def: "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." [NCIT:C6461]
synonym: "large cell carcinoma of the Thymus" EXACT [DOID:4553, NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of the Thymus" EXACT [NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of Thymus" EXACT [NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of thymus" EXACT []
synonym: "thymic large cell neuroendocrine carcinoma" EXACT [NCIT:C6461]
synonym: "thymic LCNEC" EXACT [NCIT:C6461]
synonym: "Thymus large cell carcinoma" EXACT [NCIT:C6461]
synonym: "thymus large cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "thymus large cell neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4553 {source="MONDO:equivalentTo"}
xref: NCIT:C6461 {source="DOID:4553", source="MONDO:equivalentTo"}
xref: UMLS:C1334364 {source="NCIT:C6461", source="DOID:4553", source="MONDO:equivalentTo"}
is_a: MONDO:0005057 {source="MONDO:Redundant", source="MONDOLEX:0003047", source="NCIT:C6461"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0020516 ! thymic neuroendocrine carcinoma
property_value: exactMatch DOID:4553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334364
property_value: exactMatch NCIT:C6461

[Term]
id: MONDO:0003048
name: obsolete type C thymoma
is_obsolete: true
replaced_by: MONDO:0006451

[Term]
id: MONDO:0003049
name: ovarian large-cell neuroendocrine carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." [NCIT:P378]
synonym: "large cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238]
synonym: "large cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "large-cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238]
synonym: "large-cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "non-small-cell type neuroendocrine carcinoma of ovary" EXACT [DOID:4555, NCIT:C5238]
synonym: "non-small-cell type neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "ovarian large cell NEC" EXACT [NCIT:C5238]
synonym: "ovarian large cell neuroendocrine carcinoma" EXACT [NCIT:C5238]
synonym: "ovarian non-small-cell type neuroendocrine carcinoma" EXACT [NCIT:C5238]
synonym: "ovary large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4555 {source="MONDO:equivalentTo"}
xref: NCIT:C5238 {source="DesignPattern", source="DOID:4555", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335174 {source="DOID:4555", source="MONDO:equivalentTo", source="NCIT:C5238"}
is_a: MONDO:0002481 ! ovarian neuroendocrine neoplasm
is_a: MONDO:0005057 {source="MONDO:Redundant", source="MONDOLEX:0003049", source="NCIT:C5238"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005140 {source="DOID:4555", source="MONDO:Redundant", source="NCIT:C5238", source="indirect"} ! ovarian carcinoma
property_value: exactMatch DOID:4555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335174
property_value: exactMatch NCIT:C5238

[Term]
id: MONDO:0003050
name: lung large cell carcinoma
alt_id: MONDO:0006024
def: "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." [NCIT:C4450]
synonym: "anaplastic lung carcinoma" EXACT [NCIT:C4450]
synonym: "large cell carcinoma of lung" EXACT [NCIT:C4450]
synonym: "large cell carcinoma of the lung" EXACT [NCIT:C4450]
synonym: "large cell lung cancer" EXACT [NCIT:C4450]
synonym: "large cell lung carcinoma" EXACT [DOID:4556, NCIT:C4450]
synonym: "large cell undifferentiated lung carcinoma" EXACT [NCIT:C4450]
synonym: "LCLC" RELATED [ONCOTREE:LCLC]
synonym: "lung large cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4556 {source="MONDO:equivalentTo"}
xref: EFO:0003050 {source="MONDO:equivalentTo"}
xref: EFO:1000016 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4450 {source="DOID:4556", source="MONDO:equivalentTo", source="EFO:1000016"}
xref: ONCOTREE:LCLC {source="MONDO:equivalentTo"}
xref: SCTID:254629004 {source="DOID:4556", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345958 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4450", source="DOID:4556", source="MONDO:equivalentTo", source="EFO:1000016"}
is_a: MONDO:0005232 {source="DOID:4556", source="MONDO:Redundant", source="MONDOLEX:0003050", source="NCIT:C4450"} ! large cell carcinoma
is_a: MONDO:0005233 {source="DOID:4556", source="EFO:1000016", source="NCIT:C4450", source="ONCOTREE:LCLC"} ! non-small cell lung carcinoma (disease)
property_value: exactMatch DOID:4556
property_value: exactMatch http://identifiers.org/snomedct/254629004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345958
property_value: exactMatch NCIT:C4450

[Term]
id: MONDO:0003051
name: non specific chronic endometritis
def: "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." [NCIT:C27625]
synonym: "non specific chronic endometritis" EXACT [NCIT:C27625]
xref: DOID:4560 {source="MONDO:equivalentTo"}
xref: NCIT:C27625 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4560"}
xref: UMLS:C1335061 {source="MONDO:equivalentTo", source="NCIT:C27625", source="DOID:4560"}
is_a: MONDO:0024279 {source="MONDOLEX:0003051", source="NCIT:C27625"} ! chronic endometritis
property_value: exactMatch DOID:4560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335061
property_value: exactMatch NCIT:C27625

[Term]
id: MONDO:0003052
name: granulomatous endometritis
def: "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." [NCIT:C27626]
synonym: "granulomatous endometritis" EXACT [NCIT:C27626]
xref: DOID:4561 {source="MONDO:equivalentTo"}
xref: NCIT:C27626 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4561"}
xref: UMLS:C1333876 {source="MONDO:equivalentTo", source="NCIT:C27626", source="DOID:4561"}
is_a: MONDO:0024279 {source="NCIT:C27626"} ! chronic endometritis
property_value: exactMatch DOID:4561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333876
property_value: exactMatch NCIT:C27626

[Term]
id: MONDO:0003053
name: choroid plexus meningioma
def: "A meningioma that affects the choroid plexus." [NCIT:P378]
synonym: "choroid meningioma (morphologic abnormality)" EXACT [DOID:4584]
synonym: "choroid plexus meningioma" EXACT [NCIT:C4719]
synonym: "choroid plexus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of choroid plexus" EXACT []
synonym: "meningioma of choroid plexus" RELATED [NCIT:C4719]
synonym: "meningioma of the choroid plexus" EXACT [DOID:4584, NCIT:C4719]
xref: DOID:4584 {source="MONDO:equivalentTo"}
xref: NCIT:C4719 {source="DOID:4584", source="MONDO:equivalentTo"}
xref: UMLS:C0431118 {source="DOID:4584", source="NCIT:C4719", source="MONDO:equivalentTo"}
is_a: MONDO:0002681 ! choroid plexus cancer
is_a: MONDO:0002772 ! intraventricular meningioma
property_value: closeMatch http://identifiers.org/snomedct/253082002
property_value: exactMatch DOID:4584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431118
property_value: exactMatch NCIT:C4719

[Term]
id: MONDO:0003054
name: benign meningioma
def: "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." [NCIT:C4055]
synonym: "benign meningioma (WHO grade I)" EXACT [NCIT:C4055]
synonym: "meningioma (disease), benign" EXACT [MONDO:patterns/benign]
synonym: "meningioma, benign" EXACT [DOID:4587, NCIT:C4055]
xref: DOID:4587 {source="MONDO:equivalentTo"}
xref: NCIT:C4055 {source="DOID:4587", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:724171006 {source="MONDO:equivalentTo"}
xref: UMLS:C0281784 {source="DOID:4587", source="NCIT:C4055", source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="MONDO:Redundant", source="MONDOLEX:0003054", source="NCIT:C4055/inferred", source="OWLReasoner:2017"} ! meningioma (disease)
is_a: MONDO:0021527 {source="MONDO:Redundant", source="NCIT:C4055"} ! benign neoplasm of meninges
property_value: exactMatch DOID:4587
property_value: exactMatch http://identifiers.org/snomedct/724171006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281784
property_value: exactMatch NCIT:C4055

[Term]
id: MONDO:0003055
name: secretory meningioma
def: "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." [NCIT:C4718]
synonym: "secretory meningioma" EXACT [DOID:4588, NCIT:C4718]
synonym: "secretory meningioma (morphologic abnormality)" EXACT [DOID:4588]
xref: DOID:4588 {source="MONDO:equivalentTo"}
xref: EFO:1000522 {source="MONDO:equivalentTo"}
xref: NCIT:C4718 {source="DOID:4588", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1384406 {source="NCIT:C4718", source="DOID:4588", source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="DOID:4588", source="EFO:1000522", source="MONDOLEX:0003055", source="NCIT:C4718/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/19453003
property_value: closeMatch http://identifiers.org/snomedct/253081009
property_value: exactMatch DOID:4588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384406
property_value: exactMatch NCIT:C4718

[Term]
id: MONDO:0003056
name: lymphoplasmacyte-rich meningioma
def: "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." [NCIT:C4720]
synonym: "lymphoplasmacyte-rich meningioma" EXACT [DOID:4591, NCIT:C4720]
synonym: "lymphoplasmocyte-rich meningioma" EXACT [DOID:4591]
synonym: "lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [DOID:4591]
xref: DOID:4591 {source="MONDO:equivalentTo"}
xref: EFO:1000342 {source="MONDO:equivalentTo"}
xref: NCIT:C4720 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4591"}
xref: UMLS:C0431119 {source="MONDO:equivalentTo", source="NCIT:C4720", source="DOID:4591"}
is_a: MONDO:0016642 {source="DOID:4591", source="EFO:1000342", source="MONDOLEX:0003056", source="NCIT:C4720/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/19453003
property_value: closeMatch http://identifiers.org/snomedct/253083007
property_value: exactMatch DOID:4591
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431119
property_value: exactMatch NCIT:C4720

[Term]
id: MONDO:0003057
name: pediatric meningioma
def: "A meningioma that occurs during childhood." [NCIT:P378]
synonym: "childhood meningioma" EXACT [NCIT:C8264]
synonym: "childhood meningioma (disease)" EXACT []
synonym: "meningioma" EXACT [NCIT:C8264]
synonym: "meningioma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric meningioma" EXACT [NCIT:C8264]
synonym: "pediatric meningioma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric meningioma (disease)" RELATED [MONDO:patterns/childhood]
xref: DOID:4593 {source="MONDO:equivalentTo"}
xref: NCIT:C8264 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4593"}
xref: UMLS:C0280656 {source="NCIT:C8264", source="MONDO:equivalentTo", source="DOID:4593"}
is_a: MONDO:0016642 {source="DOID:4593", source="MONDO:Redundant", source="MONDOLEX:0003057", source="NCIT:C8264"} ! meningioma (disease)
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch DOID:4593
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280656
property_value: exactMatch NCIT:C8264

[Term]
id: MONDO:0003058
name: microcystic meningioma
def: "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." [NCIT:C4721]
synonym: "microcystic meningioma" EXACT [DOID:4594, NCIT:C4721]
synonym: "microcystic meningioma (morphologic abnormality)" EXACT [DOID:4594]
xref: DOID:4594 {source="MONDO:equivalentTo"}
xref: EFO:1000376 {source="MONDO:equivalentTo"}
xref: NCIT:C4721 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4594"}
xref: UMLS:C1384408 {source="MONDO:equivalentTo", source="NCIT:C4721", source="DOID:4594"}
is_a: MONDO:0016642 {source="DOID:4594", source="EFO:1000376", source="MONDOLEX:0003058", source="NCIT:C4721/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/19453003
property_value: closeMatch http://identifiers.org/snomedct/253084001
property_value: exactMatch DOID:4594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384408
property_value: exactMatch NCIT:C4721

[Term]
id: MONDO:0003059
name: bile duct cancer
def: "A malignant neoplasm involving the bile duct" [MONDO:DesignPattern]
synonym: "bile duct cancer" EXACT [MONDO:patterns/location]
synonym: "bile duct tumor" EXACT [DOID:4606, NCIT:C2898]
synonym: "Ca extrahepatic bile ducts" EXACT [DOID:4606]
synonym: "cancer of bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant bile duct neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [DOID:4606, NCIT:C7483]
xref: DOID:4606 {source="MONDO:equivalentTo"}
xref: ICD10:C24.0 {source="DOID:4606"}
xref: ICD9:156.1 {source="MONDO:relatedTo", source="DOID:4606"}
is_a: MONDO:0003060 {source="DOID:4606", source="MONDO:Entailed", source="MONDO:Redundant"} ! biliary tract cancer
is_a: MONDO:0021662 ! bile duct neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154473009
property_value: closeMatch http://identifiers.org/snomedct/187787007
property_value: closeMatch http://identifiers.org/snomedct/93790004
property_value: exactMatch DOID:4606

[Term]
id: MONDO:0003060
name: biliary tract cancer
def: "A malignant neoplasm involving the biliary tree" [MONDO:DesignPattern]
subset: gard_rare {source="GARD:0005924"}
synonym: "biliary tree cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer]
synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of biliary tree" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumour of biliary tract" EXACT [DOID:4607]
xref: DOID:4607 {source="MONDO:equivalentTo"}
xref: GARD:0005924 {source="MONDO:equivalentTo"}
xref: ICD10:C24.9 {source="DOID:4607"}
xref: ICD9:156.9 {source="DOID:4607"}
is_a: MONDO:0002691 ! liver cancer
is_a: MONDO:0005304 ! biliary tract neoplasm (disease)
property_value: closeMatch http://identifiers.org/mesh/D001661
property_value: closeMatch http://identifiers.org/snomedct/363415003
property_value: closeMatch http://identifiers.org/snomedct/93688006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005426
property_value: exactMatch DOID:4607
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer xsd:anyURI {source="GARD:0005924"}

[Term]
id: MONDO:0003061
name: benign muscle neoplasm
alt_id: MONDO:0002393
def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." [NCIT:C4882]
synonym: "benign muscle neoplasm" EXACT [NCIT:C4882]
synonym: "benign muscle tumor" EXACT [NCIT:C4882]
synonym: "benign neoplasm of muscle" EXACT [NCIT:C4882]
synonym: "benign neoplasm of the muscle" EXACT [NCIT:C4882]
synonym: "benign tumor of muscle" EXACT [NCIT:C4882]
synonym: "benign tumor of the muscle" EXACT [NCIT:C4882]
synonym: "muscle benign neoplasm" RELATED [DOID:461]
synonym: "muscle neoplasm" EXACT [CSP2005:2011-3484, DOID:461]
synonym: "muscle tissue neoplasm" EXACT [DOID:461]
synonym: "myoma" EXACT [NCIT:C4882]
synonym: "myomatous neoplasm" EXACT EXCLUDE [DOID:461]
synonym: "myomatous tumor" EXACT [DOID:461, NCIT:C4063]
synonym: "neoplasm of muscle" EXACT EXCLUDE [DOID:461]
xref: DOID:2691 {source="MONDO:equivalentTo"}
xref: DOID:461 {source="MONDO:equivalentTo"}
xref: ICD10:D21 {source="DOID:2691"}
xref: ICDO:8895/0 {source="NCIT:C4882"}
xref: MESH:D009214 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2691"}
xref: NCIT:C4882 {source="MONDO:equivalentTo", source="DOID:2691"}
is_a: MONDO:0000636 {source="DOID:2691/inferred", source="DOID:461"} ! musculoskeletal system benign neoplasm
is_a: MONDO:0021545 {source="MESH:D009214", source="MONDO:Redundant", source="NCIT:C4882"} ! myomatous neoplasm
property_value: closeMatch http://identifiers.org/snomedct/115228006
property_value: closeMatch http://identifiers.org/snomedct/126616000
property_value: closeMatch http://identifiers.org/snomedct/134329004
property_value: closeMatch http://identifiers.org/snomedct/189786009
property_value: closeMatch http://identifiers.org/snomedct/189801005
property_value: closeMatch http://identifiers.org/snomedct/66357004
property_value: closeMatch http://identifiers.org/snomedct/92237006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027086
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027664
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282606
property_value: exactMatch DOID:2691
property_value: exactMatch DOID:461
property_value: exactMatch http://identifiers.org/mesh/D009214
property_value: exactMatch NCIT:C4882

[Term]
id: MONDO:0003062
name: intestinal benign neoplasm
def: "A benign neoplasm that involves the intestine." [MONDO:patterns/location]
synonym: "benign intestinal neoplasm" EXACT [NCIT:C4609]
synonym: "benign intestinal neoplasms" EXACT [NCIT:C4609]
synonym: "benign intestinal tumor" EXACT [NCIT:C4609]
synonym: "benign intestinal tumors" EXACT [NCIT:C4609]
synonym: "benign intestine neoplasm" EXACT [NCIT:C4609]
synonym: "benign intestine tumor" EXACT [NCIT:C4609]
synonym: "benign neoplasm of intestines" EXACT [NCIT:C4609]
synonym: "benign neoplasm of the intestines" EXACT [NCIT:C4609]
synonym: "benign neoplasms of large and/or small intestine" EXACT [NCIT:C4609]
synonym: "benign neoplasms of the large and/or small intestine" EXACT [NCIT:C4609]
synonym: "benign tumor of intestines" EXACT [NCIT:C4609]
synonym: "benign tumor of the intestines" EXACT [NCIT:C4609]
synonym: "intestinal neoplasms, benign" EXACT [NCIT:C4609]
synonym: "intestinal tumors, benign" EXACT [NCIT:C4609]
synonym: "intestine benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4609 {source="MONDO:equivalentTo"}
xref: SCTID:92151003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347269 {source="NCIT:C4609", source="MONDO:equivalentTo"}
is_a: MONDO:0000385 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C4609"} ! benign digestive system neoplasm
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4609", source="OWLReasoner:2017", source="linkedlifedata"} ! intestinal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92151003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347269
property_value: exactMatch NCIT:C4609

[Term]
id: MONDO:0003063
name: obsolete hydranencephaly
is_obsolete: true
replaced_by: MONDO:0016344

[Term]
id: MONDO:0003064
name: inverted transitional cell papilloma
def: "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." [NCIT:C4118]
synonym: "inverted transitional cell papilloma" EXACT [NCIT:C4118]
synonym: "inverted transitional papilloma" EXACT [NCIT:C4118]
synonym: "transitional papilloma, inverted" EXACT [DOID:4630]
xref: DOID:4630 {source="MONDO:equivalentTo"}
xref: ICDO:8121/1 {source="NCIT:C4118"}
xref: NCIT:C4118 {source="DOID:4630", source="MONDO:equivalentTo"}
xref: UMLS:C0334269 {source="DOID:4630", source="MONDO:equivalentTo", source="NCIT:C4118"}
is_a: MONDO:0002537 {source="DOID:4630", source="MONDO:Redundant", source="NCIT:C4118"} ! inverted papilloma
is_a: MONDO:0005605 {source="DOID:4630", source="MONDO:Redundant", source="MONDOLEX:0003064", source="NCIT:C4118"} ! transitional cell papilloma
intersection_of: MONDO:0002537 {source="NCIT:C4118"} ! inverted papilloma
intersection_of: MONDO:0005605 {source="NCIT:C4118"} ! transitional cell papilloma
property_value: closeMatch http://identifiers.org/snomedct/46580000
property_value: exactMatch DOID:4630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334269
property_value: exactMatch NCIT:C4118

[Term]
id: MONDO:0003065
name: nasal cavity inverting papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." [NCIT:P378]
synonym: "inverting papilloma of nasal cavity" EXACT [NCIT:C8194]
synonym: "inverting papilloma of the nasal cavity" EXACT [DOID:4633, NCIT:C8194]
synonym: "nasal cavity inverted papilloma" EXACT [NCIT:C8194]
synonym: "nasal cavity Schneiderian papilloma, inverted type" EXACT [NCIT:C8194]
xref: DOID:4633 {source="MONDO:equivalentTo"}
xref: NCIT:C8194 {source="DOID:4633", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.60"}
xref: UMLS:C0280336 {source="DOID:4633", source="MONDO:equivalentTo", source="NCIT:C8194"}
is_a: MONDO:0004756 {source="DOID:4633", source="NCIT:C8194/inferred"} ! nasal cavity neoplasm
property_value: exactMatch DOID:4633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280336
property_value: exactMatch NCIT:C8194

[Term]
id: MONDO:0003066
name: submandibular adenitis
def: "Inflammation of the submandibular lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of submandibular gland" EXACT []
synonym: "submandibular gland lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "submandibular lymphadenitis" EXACT [DOID:4636, NCIT:C27016]
xref: DOID:4636 {source="MONDO:equivalentTo"}
xref: NCIT:C27016 {source="MONDO:equivalentTo", source="DOID:4636"}
xref: SCTID:15170009 {source="MONDO:equivalentTo", source="DOID:4636", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0235591 {source="MONDO:equivalentTo", source="NCIT:C27016", source="DOID:4636"}
is_a: MONDO:0001597 ! submandibular gland disease
is_a: MONDO:0003067 {source="DOID:4636", source="linkedlifedata"} ! cervical lymphadenitis
is_a: MONDO:0006969 ! sialadenitis
property_value: exactMatch DOID:4636
property_value: exactMatch http://identifiers.org/snomedct/15170009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235591
property_value: exactMatch NCIT:C27016

[Term]
id: MONDO:0003067
name: cervical lymphadenitis
def: "Inflammation of the cervical lymph nodes." [NCIT:P378]
synonym: "cervical adenitis" EXACT [DOID:4637]
synonym: "lymphadenitis (disease) of neck" EXACT []
synonym: "neck lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4637 {source="MONDO:equivalentTo"}
xref: NCIT:C26937 {source="MONDO:equivalentTo", source="DOID:4637"}
xref: SCTID:3502005 {source="MONDO:equivalentTo", source="DOID:4637", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149642 {source="MONDO:equivalentTo", source="DOID:4637", source="NCIT:C26937"}
is_a: MONDO:0002052 {source="DOID:4637", source="MONDO:Redundant", source="NCIT:C26937"} ! lymphadenitis (disease)
is_a: MONDO:0021059 ! head or neck disease/disorder
property_value: exactMatch DOID:4637
property_value: exactMatch http://identifiers.org/snomedct/3502005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149642
property_value: exactMatch NCIT:C26937

[Term]
id: MONDO:0003068
name: postauricular lymphadenitis
def: "Inflammation of the postauricular lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of mastoid lymph node" EXACT []
synonym: "mastoid lymph node lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4638 {source="MONDO:equivalentTo"}
xref: NCIT:C27332 {source="MONDO:equivalentTo", source="DOID:4638"}
xref: UMLS:C0919638 {source="NCIT:C27332", source="MONDO:equivalentTo", source="DOID:4638"}
is_a: MONDO:0002052 {source="DOID:4638", source="MONDO:Redundant", source="NCIT:C27332"} ! lymphadenitis (disease)
is_a: MONDO:0005042 ! head disease
property_value: exactMatch DOID:4638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0919638
property_value: exactMatch NCIT:C27332

[Term]
id: MONDO:0003069
name: suppurative lymphadenitis
def: "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." [NCIT:P378]
synonym: "suppurative lymphadenopathy" EXACT [DOID:4639]
xref: DOID:4639 {source="MONDO:equivalentTo"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27135 {source="MONDO:equivalentTo", source="DOID:4639"}
xref: SCTID:48573006 {source="MONDO:equivalentTo", source="DOID:4639", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0392051 {source="NCIT:C27135", source="MONDO:equivalentTo", source="DOID:4639"}
is_a: MONDO:0002052 {source="DOID:4639", source="NCIT:C27135"} ! lymphadenitis (disease)
property_value: exactMatch DOID:4639
property_value: exactMatch http://identifiers.org/snomedct/48573006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392051
property_value: exactMatch NCIT:C27135

[Term]
id: MONDO:0003070
name: axillary lymphadenitis
def: "An infection of the lymph nodes in the axilla." [NCIT:C27333]
synonym: "axilla lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "axillary adenitis" RELATED [NCIT:C27333]
synonym: "axillary lymphadenitis" EXACT [NCIT:C27333]
synonym: "lymphadenitis (disease) of axilla" EXACT []
xref: DOID:4640 {source="MONDO:equivalentTo"}
xref: NCIT:C27333 {source="DOID:4640", source="NCIT:C27333", source="MONDO:equivalentTo"}
xref: UMLS:C0919797 {source="DOID:4640", source="NCIT:C27333", source="MONDO:equivalentTo"}
is_a: MONDO:0002052 {source="DOID:4640", source="MONDO:Redundant", source="NCIT:C27333"} ! lymphadenitis (disease)
property_value: exactMatch DOID:4640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0919797
property_value: exactMatch NCIT:C27333

[Term]
id: MONDO:0003071
name: obsolete epidermolysis bullosa simplex
is_obsolete: true
replaced_by: MONDO:0017610

[Term]
id: MONDO:0003072
name: retinal cancer
def: "A malignant neoplasm involving the retina." [MONDO:DesignPattern]
synonym: "cancer of retina" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retina" EXACT [DOID:4645, MONDO:patterns/cancer, NCIT:C3216]
synonym: "malignant neoplasm of the retina" EXACT [NCIT:C3216]
synonym: "malignant retina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3216]
synonym: "malignant retina tumor" EXACT [NCIT:C3216]
synonym: "malignant retinal neoplasm" EXACT [DOID:4645, NCIT:C3216]
synonym: "malignant retinal tumor" EXACT [NCIT:C3216]
synonym: "malignant tumor of retina" EXACT [NCIT:C3216]
synonym: "malignant tumor of the retina" EXACT [NCIT:C3216]
synonym: "neoplasm of retina" EXACT EXCLUDE [DOID:4645]
synonym: "retina cancer" EXACT [MONDO:patterns/location]
synonym: "retinal tumor" EXACT [DOID:4645, NCIT:C4800]
xref: DOID:4645 {source="MONDO:equivalentTo"}
xref: EFO:0005716 {source="MONDO:equivalentTo"}
xref: ICD10:C69.2 {source="DOID:4645"}
xref: ICD9:190.5 {source="MONDO:equivalentTo", source="DOID:4645", source="i2s"}
xref: MESH:D019572 {source="MONDO:equivalentTo", source="DOID:4645", source="MONDO:ontobio"}
xref: NCIT:C3216 {source="MONDO:equivalentTo", source="DOID:4645", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: SCTID:363465007 {source="MONDO:equivalentTo", source="DOID:4645", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0002236 {source="DOID:4645", source="MESH:D019572", source="MONDO:Redundant", source="NCIT:C3216", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular cancer
is_a: MONDO:0021231 {source="MONDO:Redundant", source="NCIT:C3216"} ! retina neoplasm
property_value: closeMatch http://identifiers.org/snomedct/127002001
property_value: closeMatch http://identifiers.org/snomedct/93987004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024622
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524801
property_value: exactMatch DOID:4645
property_value: exactMatch http://identifiers.org/mesh/D019572
property_value: exactMatch http://identifiers.org/snomedct/363465007
property_value: exactMatch NCIT:C3216

[Term]
id: MONDO:0003073
name: trilateral retinoblastoma
def: "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)." [NCIT:P378]
xref: DOID:4647 {source="MONDO:equivalentTo"}
xref: NCIT:C7019 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2608045 {source="MONDO:equivalentTo", source="NCIT:C7019"}
is_a: MONDO:0008380 {source="DOID:4647", source="NCIT:C7019"} ! retinoblastoma
property_value: exactMatch DOID:4647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2608045
property_value: exactMatch NCIT:C7019

[Term]
id: MONDO:0003074
name: obsolete familial retinoblastoma
is_obsolete: true
replaced_by: MONDO:0018160

[Term]
id: MONDO:0003075
name: bilateral retinoblastoma
def: "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well." [NCIT:C8713]
xref: DOID:4650 {source="MONDO:equivalentTo"}
xref: NCIT:C8713 {source="DOID:4650", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0854914 {source="DOID:4650", source="MONDO:equivalentTo", source="NCIT:C8713"}
is_a: MONDO:0008380 {source="DOID:4650", source="NCIT:C8713"} ! retinoblastoma
property_value: exactMatch DOID:4650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854914
property_value: exactMatch NCIT:C8713

[Term]
id: MONDO:0003076
name: unilateral retinoblastoma
def: "A retinoblastoma that only involves a single eye." [NCIT:C8714]
xref: DOID:4651 {source="MONDO:equivalentTo"}
xref: NCIT:C8714 {source="DOID:4651", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0854915 {source="DOID:4651", source="MONDO:equivalentTo", source="NCIT:C8714"}
is_a: MONDO:0008380 {source="DOID:4651", source="NCIT:C8714"} ! retinoblastoma
property_value: exactMatch DOID:4651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854915
property_value: exactMatch NCIT:C8714

[Term]
id: MONDO:0003077
name: intraocular retinoblastoma
def: "Retinoblastoma restricted to local involvement." [NCIT:C7846]
synonym: "intraocular retinoblastoma" EXACT [DOID:4653, NCIT:C7846]
xref: DOID:4653 {source="MONDO:equivalentTo"}
xref: NCIT:C7846 {source="DOID:4653", source="MONDO:equivalentTo"}
xref: UMLS:C0278717 {source="DOID:4653", source="MONDO:equivalentTo", source="NCIT:C7846"}
is_a: MONDO:0008380 {source="DOID:4653", source="NCIT:C7846"} ! retinoblastoma
property_value: exactMatch DOID:4653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278717
property_value: exactMatch NCIT:C7846

[Term]
id: MONDO:0003078
name: extraocular retinoblastoma
def: "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow." [NCIT:C7848]
synonym: "extraocular retinoblastoma" EXACT [DOID:4656, NCIT:C7848]
synonym: "metastatic retinoblastoma" EXACT [NCIT:C7848]
xref: DOID:4656 {source="MONDO:equivalentTo"}
xref: NCIT:C7848 {source="MONDO:equivalentTo", source="DOID:4656"}
xref: UMLS:C0278719 {source="MONDO:equivalentTo", source="DOID:4656", source="NCIT:C7848"}
is_a: MONDO:0008380 {source="DOID:4656", source="NCIT:C7848"} ! retinoblastoma
property_value: exactMatch DOID:4656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278719
property_value: exactMatch NCIT:C7848

[Term]
id: MONDO:0003079
name: mastocytoma
def: "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." [NCIT:C9303]
synonym: "mastocytoma" EXACT [NCIT:C9303]
xref: ICD9:238.5 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9740/1 {source="NCIT:C9303"}
xref: NCIT:C9303 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:404171008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0024897 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9303", source="MONDO:equivalentTo"}
is_a: MONDO:0002724 {source="NCIT:C9303", source="linkedlifedata"} ! mast cell neoplasm
property_value: exactMatch http://identifiers.org/snomedct/404171008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024897
property_value: exactMatch NCIT:C9303

[Term]
id: MONDO:0003080
name: obsolete indolent systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0020331

[Term]
id: MONDO:0003081
name: thalamic disease
def: "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." [NCIT:P378]
synonym: "disease of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dorsal plus ventral thalamus" EXACT []
synonym: "disorder of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of dorsal plus ventral thalamus" RELATED [MONDO:patterns/location_top]
synonym: "dorsal plus ventral thalamus disease" EXACT [MONDO:patterns/location]
synonym: "dorsal plus ventral thalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4662 {source="MONDO:equivalentTo"}
xref: MESH:D013786 {source="DOID:4662", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85186 {source="DOID:4662", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0039726 {source="DOID:4662", source="MONDO:equivalentTo", source="NCIT:C85186"}
is_a: MONDO:0005560 {source="DOID:4662", source="MESH:D013786", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain disease
property_value: exactMatch DOID:4662
property_value: exactMatch http://identifiers.org/mesh/D013786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039726
property_value: exactMatch NCIT:C85186

[Term]
id: MONDO:0003082
name: filamentary keratitis
xref: COHD:380728 {source="MONDO:equivalentTo"}
xref: DOID:4664 {source="MONDO:equivalentTo"}
xref: ICD10:H16.12 {source="DOID:4664"}
xref: ICD9:370.23 {source="DOID:4664", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:51286002 {source="DOID:4664", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155077 {source="DOID:4664", source="MONDO:equivalentTo"}
is_a: MONDO:0003085 {source="DOID:4664", source="linkedlifedata"} ! keratitis
property_value: exactMatch DOID:4664
property_value: exactMatch http://identifiers.org/snomedct/51286002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155077

[Term]
id: MONDO:0003083
name: venous hemangioma
def: "A rare slow growing benign tumor of aberrant and ectatic venous connections." [http://www.pathologyoutlines.com/topic/softtissuevenoushemangioma.html]
synonym: "Venous angioma" EXACT [NCIT:C4296]
synonym: "Venous malformation" EXACT [NCIT:C4296]
xref: DOID:467 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9122/0 {source="NCIT:C4296"}
xref: NCIT:C4296 {source="DOID:467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:403968005 {source="DOID:467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334532 {source="DOID:467", source="NCIT:C4296", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="DOID:467", source="MONDO:Redundant", source="NCIT:C4296", source="linkedlifedata"} ! hemangioma
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: closeMatch http://identifiers.org/snomedct/56468002
property_value: exactMatch DOID:467
property_value: exactMatch http://identifiers.org/snomedct/403968005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334532
property_value: exactMatch NCIT:C4296

[Term]
id: MONDO:0003084
name: uremic neuropathy
def: "Neuropathy resulting from uremia." [NCIT:P378]
xref: DOID:4675 {source="MONDO:equivalentTo"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27055 {source="DOID:4675", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:11659006 {source="DOID:4675", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268708 {source="NCIT:C27055", source="DOID:4675", source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="MONDOLEX:0003084", source="NCIT:C27055", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
is_a: MONDO:0007008 {source="DOID:4675", source="linkedlifedata"} ! uremia
property_value: exactMatch DOID:4675
property_value: exactMatch http://identifiers.org/snomedct/11659006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268708
property_value: exactMatch NCIT:C27055

[Term]
id: MONDO:0003085
name: keratitis
def: "Inflammation of the cornea." [NCIT:P378]
synonym: "cornea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cornea" EXACT []
xref: COHD:374035 {source="MONDO:equivalentTo"}
xref: DOID:4677 {source="MONDO:equivalentTo"}
xref: ICD10:H16 {source="DOID:4677", source="MONDO:equivalentTo"}
xref: ICD10:H16.9 {source="DOID:4677"}
xref: ICD9:370 {source="DOID:4677"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:370.9 {source="DOID:4677", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007634 {source="DOID:4677", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26805 {source="DOID:4677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:5888003 {source="DOID:4677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0022568 {source="DOID:4677", source="MONDO:equivalentTo", source="NCIT:C26805"}
is_a: MONDO:0000942 {source="DOID:4677", source="MESH:D007634", source="MONDO:Redundant", source="NCIT:C26805/inferred", source="linkedlifedata"} ! corneal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155151002
property_value: closeMatch http://identifiers.org/snomedct/155155006
property_value: closeMatch http://identifiers.org/snomedct/193757003
property_value: closeMatch http://identifiers.org/snomedct/193793001
property_value: closeMatch http://identifiers.org/snomedct/267730006
property_value: exactMatch DOID:4677
property_value: exactMatch http://identifiers.org/mesh/D007634
property_value: exactMatch http://identifiers.org/snomedct/5888003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022568
property_value: exactMatch NCIT:C26805

[Term]
id: MONDO:0003086
name: thymic mucoepidermoid carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports." [NCIT:C6457]
synonym: "mucoepidermoid carcinoma of the Thymus" EXACT [DOID:4678, NCIT:C6457]
synonym: "mucoepidermoid carcinoma of Thymus" EXACT [NCIT:C6457]
synonym: "thymic mucoepidermoid carcinoma" EXACT [NCIT:C6457]
synonym: "Thymus mucoepidermoid carcinoma" EXACT [NCIT:C6457]
synonym: "thymus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4678 {source="MONDO:equivalentTo"}
xref: NCIT:C6457 {source="MONDO:equivalentTo", source="DOID:4678"}
xref: UMLS:C1334814 {source="MONDO:equivalentTo", source="DOID:4678", source="NCIT:C6457"}
is_a: MONDO:0003036 {source="DOID:4678", source="MONDO:Redundant", source="MONDOLEX:0003086", source="NCIT:C6457"} ! mucoepidermoid carcinoma
is_a: MONDO:0003209 ! thymus gland adenocarcinoma
property_value: exactMatch DOID:4678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334814
property_value: exactMatch NCIT:C6457

[Term]
id: MONDO:0003087
name: mucoepidermoid breast carcinoma
def: "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." [NCIT:C5166]
synonym: "breast mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid breast carcinoma" EXACT [NCIT:C5166]
synonym: "mucoepidermoid carcinoma of breast" EXACT [DOID:4679, NCIT:C5166]
synonym: "mucoepidermoid carcinoma of the breast" EXACT [DOID:4679, NCIT:C5166]
xref: DOID:4679 {source="MONDO:equivalentTo"}
xref: NCIT:C5166 {source="DOID:4679", source="MONDO:equivalentTo"}
xref: UMLS:C1334813 {source="NCIT:C5166", source="DOID:4679", source="MONDO:equivalentTo"}
is_a: MONDO:0003036 {source="DOID:4679", source="MONDO:Redundant", source="MONDOLEX:0003087", source="NCIT:C5166"} ! mucoepidermoid carcinoma
is_a: MONDO:0004988 ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C5166"} ! invasive breast carcinoma
relationship: excluded_subClassOf MONDO:0006043 {source="DOID:4679"} ! metaplastic breast carcinoma
property_value: exactMatch DOID:4679
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334813
property_value: exactMatch NCIT:C5166

[Term]
id: MONDO:0003088
name: intramuscular hemangioma
def: "A hemangioma arising from skeletal muscle." [NCIT:C3699]
synonym: "intramuscular angioma" EXACT [DOID:468, NCIT:C3699]
synonym: "intramuscular hemangioma (morphologic abnormality)" EXACT [DOID:468]
xref: DOID:468 {source="MONDO:equivalentTo"}
xref: ICDO:9132/0 {source="NCIT:C3699"}
xref: NCIT:C3699 {source="DOID:468", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0205789 {source="DOID:468", source="MONDO:equivalentTo", source="NCIT:C3699"}
is_a: MONDO:0003096 {source="DOID:468", source="NCIT:C3699"} ! deep hemangioma
property_value: closeMatch http://identifiers.org/snomedct/54249004
property_value: exactMatch DOID:468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205789
property_value: exactMatch NCIT:C3699

[Term]
id: MONDO:0003089
name: extrahepatic bile duct mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." [NCIT:C5862]
synonym: "bile duct mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5862]
synonym: "extrahepatic bile duct mucoepidermoid carcinoma" EXACT [NCIT:C5862]
synonym: "mucoepidermoid carcinoma of bile duct" EXACT [NCIT:C5862]
synonym: "mucoepidermoid carcinoma of the bile duct" EXACT [DOID:4681, NCIT:C5862]
xref: DOID:4681 {source="MONDO:equivalentTo"}
xref: NCIT:C5862 {source="MONDO:equivalentTo", source="DOID:4681"}
xref: UMLS:C1332552 {source="MONDO:equivalentTo", source="NCIT:C5862", source="DOID:4681"}
is_a: MONDO:0002739 ! extrahepatic bile duct mucinous adenocarcinoma
is_a: MONDO:0003036 {source="DOID:4681", source="MONDO:Redundant", source="MONDOLEX:0003089", source="NCIT:C5862"} ! mucoepidermoid carcinoma
property_value: exactMatch DOID:4681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332552
property_value: exactMatch NCIT:C5862

[Term]
id: MONDO:0003090
name: extrahepatic bile duct carcinoma
def: "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." [MONDO:DesignPattern]
synonym: "carcinoma of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma, NCIT:C3860]
synonym: "carcinoma of the extrahepatic bile duct" EXACT [NCIT:C3860]
synonym: "extrahepatic bile duct cancer" EXACT [DOID:4682, NCIT:C3860]
synonym: "extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C3860]
xref: DOID:4682 {source="MONDO:equivalentTo"}
xref: NCIT:C3860 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4682"}
xref: SCTID:372101000 {source="MONDO:equivalentTo", source="DOID:4682", source="MONDO:kboom-pr-0.89/0.76/0.31"}
xref: UMLS:C0238019 {source="MONDO:equivalentTo", source="NCIT:C3860", source="DOID:4682"}
is_a: MONDO:0005496 {source="DOID:4682", source="MONDO:Redundant", source="MONDOLEX:0003090", source="NCIT:C3860", source="OWLReasoner:2017"} ! bile duct carcinoma
is_a: MONDO:0021321 {source="MONDO:Redundant", source="MONDOLEX:0003090", source="NCIT:C3860", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of extrahepatic bile duct
property_value: closeMatch http://identifiers.org/snomedct/254603004
property_value: closeMatch http://identifiers.org/snomedct/269551004
property_value: closeMatch http://identifiers.org/snomedct/93790004
property_value: exactMatch DOID:4682
property_value: exactMatch http://identifiers.org/snomedct/372101000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238019
property_value: exactMatch NCIT:C3860

[Term]
id: MONDO:0003091
name: cutaneous mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "mucoepidermoid skin carcinoma" EXACT [DOID:4683, NCIT:C4472]
synonym: "zone of skin mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4683 {source="MONDO:equivalentTo"}
xref: NCIT:C4472 {source="DOID:4683", source="MONDO:equivalentTo"}
xref: SCTID:254713002 {source="DOID:4683", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346019 {source="DOID:4683", source="MONDO:equivalentTo"}
is_a: MONDO:0002656 ! skin carcinoma
is_a: MONDO:0003036 ! mucoepidermoid carcinoma
property_value: exactMatch DOID:4683
property_value: exactMatch http://identifiers.org/snomedct/254713002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346019
property_value: exactMatch NCIT:C4472

[Term]
id: MONDO:0003092
name: lacrimal gland mucoepidermoid carcinoma
def: "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells." [NCIT:C6091]
synonym: "lacrimal gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6091]
synonym: "mucoepidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6091]
synonym: "mucoepidermoid carcinoma of the lacrimal gland" EXACT [DOID:4685, NCIT:C6091]
xref: DOID:4685 {source="MONDO:equivalentTo"}
xref: NCIT:C6091 {source="DOID:4685", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334359 {source="DOID:4685", source="MONDO:equivalentTo", source="NCIT:C6091"}
is_a: MONDO:0002475 ! lacrimal gland adenocarcinoma
is_a: MONDO:0003036 {source="DOID:4685", source="MONDO:Redundant", source="MONDOLEX:0003092", source="NCIT:C6091"} ! mucoepidermoid carcinoma
property_value: exactMatch DOID:4685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334359
property_value: exactMatch NCIT:C6091

[Term]
id: MONDO:0003093
name: mucoepidermoid esophageal carcinoma
def: "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)" [NCIT:P378]
synonym: "esophagus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of the esophagus" EXACT [DOID:4686, NCIT:C5343]
xref: DOID:4686 {source="MONDO:equivalentTo"}
xref: NCIT:C5343 {source="DOID:4686", source="MONDO:equivalentTo"}
xref: UMLS:C1333461 {source="DOID:4686", source="MONDO:equivalentTo"}
is_a: MONDO:0003036 ! mucoepidermoid carcinoma
is_a: MONDO:0005028 ! esophageal adenocarcinoma
property_value: exactMatch DOID:4686
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333461
property_value: exactMatch NCIT:C5343

[Term]
id: MONDO:0003094
name: obsolete mucoepidermoid thyroid carcinoma
is_obsolete: true
replaced_by: MONDO:0006463

[Term]
id: MONDO:0003095
name: laryngeal mucoepidermoid carcinoma
def: "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." [NCIT:C9463]
synonym: "laryngeal mucoepidermoid carcinoma" EXACT [NCIT:C9463]
synonym: "laryngeal throat mucoepidermoid cancer" EXACT [NCIT:C9463]
synonym: "larynx mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of larynx" EXACT [DOID:4688, NCIT:C9463]
synonym: "mucoepidermoid carcinoma of the larynx" EXACT [NCIT:C9463]
xref: DOID:4688 {source="MONDO:equivalentTo"}
xref: NCIT:C9463 {source="DOID:4688", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334373 {source="NCIT:C9463", source="DOID:4688", source="MONDO:equivalentTo"}
is_a: MONDO:0002358 {source="DOID:4688", source="MONDO:Redundant", source="MONDOLEX:0003095", source="NCIT:C9463"} ! laryngeal carcinoma
is_a: MONDO:0003036 {source="DOID:4688", source="MONDO:Redundant", source="MONDOLEX:0003095", source="NCIT:C9463"} ! mucoepidermoid carcinoma
property_value: exactMatch DOID:4688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334373
property_value: exactMatch NCIT:C9463

[Term]
id: MONDO:0003096
name: deep hemangioma
def: "A hemangioma arising from the deep soft tissues." [NCIT:C6555]
synonym: "deep angioma" EXACT [NCIT:C6555]
synonym: "deep hemangioma" EXACT [NCIT:C6555]
xref: DOID:469 {source="MONDO:equivalentTo"}
xref: NCIT:C6555 {source="DOID:469", source="MONDO:equivalentTo"}
xref: UMLS:C1333265 {source="DOID:469", source="MONDO:equivalentTo", source="NCIT:C6555"}
is_a: MONDO:0006500 {source="DOID:469", source="NCIT:C6555"} ! hemangioma
property_value: exactMatch DOID:469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333265
property_value: exactMatch NCIT:C6555

[Term]
id: MONDO:0003097
name: childhood mediastinal neurogenic neoplasm
synonym: "childhood mediastinal neurogenic neoplasm" EXACT [NCIT:C5429]
synonym: "childhood mediastinal neurogenic tumor" EXACT [NCIT:C5429]
synonym: "childhood neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic tumor of mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic tumor of the mediastinum" EXACT [NCIT:C5429]
synonym: "pediatric mediastinal neurogenic neoplasm" EXACT [NCIT:C5429]
synonym: "pediatric mediastinal neurogenic tumor" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic tumor of mediastinum" EXACT [DOID:4690, NCIT:C5429]
synonym: "pediatric neurogenic tumor of the mediastinum" EXACT [NCIT:C5429]
xref: DOID:4690 {source="MONDO:equivalentTo"}
xref: NCIT:C5429 {source="MONDO:equivalentTo", source="DOID:4690", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332981 {source="MONDO:equivalentTo", source="DOID:4690", source="NCIT:C5429"}
is_a: MONDO:0003098 {source="DOID:4690", source="MONDO:Redundant", source="MONDOLEX:0003097", source="NCIT:C5429"} ! mediastinal neural neoplasm
is_a: MONDO:0021079 {source="MONDO:Redundant", source="MONDOLEX:0003097", source="NCIT:C5429"} ! childhood neoplasm
property_value: exactMatch DOID:4690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332981
property_value: exactMatch NCIT:C5429

[Term]
id: MONDO:0003098
name: mediastinal neural neoplasm
def: "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." [NCIT:C6624]
synonym: "malignant mediastinal neurogenic neoplasm" RELATED [DOID:4691]
synonym: "mediastinal neural neoplasm" EXACT [NCIT:C6624]
synonym: "mediastinal neural tumor" EXACT [NCIT:C6624]
synonym: "mediastinal neurogenic neoplasm" EXACT [NCIT:C6624]
synonym: "mediastinal neurogenic tumor" EXACT [NCIT:C6624]
synonym: "neurogenic neoplasm of mediastinum" EXACT [NCIT:C6624]
synonym: "neurogenic neoplasm of the mediastinum" EXACT [NCIT:C6624]
synonym: "neurogenic tumor of mediastinum" EXACT [DOID:4691, NCIT:C6624]
synonym: "neurogenic tumor of the mediastinum" EXACT [NCIT:C6624]
xref: DOID:4691 {source="MONDO:equivalentTo"}
xref: NCIT:C6624 {source="MONDO:equivalentTo", source="DOID:4691", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334672 {source="MONDO:equivalentTo", source="NCIT:C6624", source="DOID:4691"}
is_a: MONDO:0001406 ! peripheral nervous system neoplasm
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6624"} ! neoplasm of mediastinum
property_value: exactMatch DOID:4691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334672
property_value: exactMatch NCIT:C6624

[Term]
id: MONDO:0003099
name: obsolete endophthalmitis
is_obsolete: true
replaced_by: MONDO:0016047

[Term]
id: MONDO:0003100
name: nerve plexus neoplasm
def: "A neoplasm (disease) that involves the nerve plexus." [MONDO:patterns/location]
synonym: "neoplasm of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "neoplasm of the nerve plexus" EXACT [NCIT:C5822]
synonym: "nerve plexus neoplasm" EXACT [NCIT:C5822]
synonym: "nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nerve plexus neoplasms" EXACT [NCIT:C5822]
synonym: "nerve plexus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "nerve plexus tumors" EXACT [NCIT:C5822]
synonym: "neural plexus neoplasms" EXACT [NCIT:C5822]
synonym: "neural plexus tumors" EXACT [DOID:4693, NCIT:C5822]
synonym: "tumor of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "tumor of the nerve plexus" EXACT [NCIT:C5822]
xref: DOID:4693 {source="MONDO:equivalentTo"}
xref: NCIT:C5822 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4693"}
xref: UMLS:C1334945 {source="MONDO:equivalentTo", source="NCIT:C5822", source="DOID:4693"}
is_a: MONDO:0001406 {source="DOID:4693", source="MONDO:Redundant", source="NCIT:C5822"} ! peripheral nervous system neoplasm
is_a: MONDO:0024432 ! nerve plexus disease
property_value: exactMatch DOID:4693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334945
property_value: exactMatch NCIT:C5822

[Term]
id: MONDO:0003101
name: obsolete intraneural perineurioma
is_obsolete: true
replaced_by: MONDO:0015032

[Term]
id: MONDO:0003102
name: obsolete perineurioma
is_obsolete: true
replaced_by: MONDO:0019404

[Term]
id: MONDO:0003103
name: nerve root neoplasm
def: "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." [NCIT:P378]
synonym: "neoplasm of nerve Root" EXACT [NCIT:C5119]
synonym: "neoplasm of nerve root" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the nerve Root" EXACT [NCIT:C5119]
synonym: "neoplasms, nerve Root" EXACT [NCIT:C5119]
synonym: "nerve root neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nerve Root neoplasms" EXACT [NCIT:C5119]
synonym: "nerve Root tumor" EXACT [NCIT:C5119]
synonym: "nerve root tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "nerve Root tumors" EXACT [NCIT:C5119]
synonym: "tumor of nerve Root" EXACT [DOID:4698, NCIT:C5119]
synonym: "tumor of nerve root" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the nerve Root" EXACT [NCIT:C5119]
xref: DOID:4698 {source="MONDO:equivalentTo"}
xref: NCIT:C5119 {source="DOID:4698", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1334946 {source="DOID:4698", source="MONDO:equivalentTo", source="NCIT:C5119"}
is_a: MONDO:0001406 {source="DOID:4698", source="NCIT:C5119"} ! peripheral nervous system neoplasm
property_value: exactMatch DOID:4698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334946
property_value: exactMatch NCIT:C5119

[Term]
id: MONDO:0003104
name: epicardium cancer
def: "A malignant neoplasm involving the epicardium." [MONDO:DesignPattern]
synonym: "cancer of epicardium" EXACT [MONDO:patterns/cancer]
synonym: "epicardial tumor" EXACT [DOID:4699, NCIT:C5347]
synonym: "epicardium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epicardial neoplasm" EXACT [NCIT:C4568]
synonym: "malignant epicardial tumor" EXACT [DOID:4699, NCIT:C4568]
synonym: "malignant epicardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epicardium" EXACT [DOID:4699, MONDO:patterns/cancer, NCIT:C4568]
synonym: "malignant neoplasm of the epicardium" EXACT [NCIT:C4568]
synonym: "malignant tumor of epicardium" EXACT [NCIT:C4568]
synonym: "malignant tumor of the epicardium" EXACT [NCIT:C4568]
xref: DOID:4699 {source="MONDO:equivalentTo"}
xref: NCIT:C4568 {source="MONDO:equivalentTo", source="kboom:pr0.76-conf4.32"}
xref: UMLS:C2607932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4568"}
is_a: MONDO:0001322 {source="DOID:4699", source="MONDO:Entailed", source="MONDO:Redundant"} ! pericardium cancer
is_a: MONDO:0021379 {source="MONDO:Redundant", source="NCIT:C4568"} ! neoplasm of epicardium
property_value: closeMatch http://identifiers.org/snomedct/93782004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346610
property_value: exactMatch DOID:4699
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607932
property_value: exactMatch NCIT:C4568

[Term]
id: MONDO:0003105
name: prostate disease
def: "A disease involving the prostate gland." [MONDO:DesignPattern]
synonym: "disease of prostate gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of prostate gland" EXACT []
synonym: "disorder of prostate gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of prostate gland" RELATED [MONDO:patterns/location_top]
synonym: "prostate disease" EXACT [NCIT:C26865]
synonym: "prostate disorder" EXACT [NCIT:C26865]
synonym: "prostate gland disease" EXACT [MONDO:patterns/location]
synonym: "prostate gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:196734 {source="MONDO:equivalentTo"}
xref: DOID:47 {source="MONDO:equivalentTo"}
xref: ICD10:N42.9 {source="DOID:47"}
xref: ICD9:602.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:602.9 {source="MONDO:equivalentTo", source="DOID:47", source="i2s"}
xref: MESH:D011469 {source="MONDO:equivalentTo", source="DOID:47"}
xref: NCIT:C26865 {source="MONDO:equivalentTo", source="DOID:47", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:30281009 {source="MONDO:equivalentTo", source="DOID:47", source="MONDO:kboom-pr-1.00/0.81/11.00"}
xref: UMLS:C0033575 {source="MONDO:equivalentTo", source="DOID:47", source="NCIT:C26865"}
is_a: MONDO:0003150 {source="DOID:47", source="MESH:D011469", source="MONDO:Redundant", source="NCIT:C26865", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/197979000
property_value: exactMatch DOID:47
property_value: exactMatch http://identifiers.org/mesh/D011469
property_value: exactMatch http://identifiers.org/snomedct/30281009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033575
property_value: exactMatch NCIT:C26865

[Term]
id: MONDO:0003106
name: obsolete verrucous keratotic hemangioma
is_obsolete: true
replaced_by: MONDO:0018734

[Term]
id: MONDO:0003107
name: infratentorial cancer
def: "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." [NCIT:P378]
synonym: "brain neoplasm, infratentorial" EXACT [DOID:4706, NCIT:C3139]
synonym: "infratentorial neoplasms, malignant" EXACT [NCIT:C4966]
synonym: "malignant infratentorial neoplasm" EXACT [NCIT:C4966]
synonym: "malignant infratentorial tumor" EXACT [NCIT:C4966]
synonym: "malignant infratentorial tumors" EXACT [DOID:4706, NCIT:C4966]
xref: DOID:4706 {source="MONDO:equivalentTo"}
xref: ICD10:C71.7 {source="DOID:4706"}
xref: MESH:D015192 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4706"}
xref: NCIT:C4966 {source="MONDO:kboom-pr-0.99/0.91/2.67", source="MONDO:equivalentTo", source="DOID:4706"}
xref: UMLS:C0751593 {source="MONDO:equivalentTo", source="NCIT:C4966", source="DOID:4706"}
is_a: MONDO:0001657 {source="DOID:4706", source="MESH:D015192", source="MONDOLEX:0003107", source="NCIT:C4966"} ! brain cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021432
property_value: exactMatch DOID:4706
property_value: exactMatch http://identifiers.org/mesh/D015192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751593
property_value: exactMatch NCIT:C4966

[Term]
id: MONDO:0003108
name: cervicomedullary junction neoplasm
synonym: "cervicomedullary junction neoplasms" EXACT [NCIT:C5423]
synonym: "cervicomedullary junction tumor" EXACT [NCIT:C5423]
synonym: "neoplasm of cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "neoplasm of the cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "tumor of cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "tumor of the cervicomedullary junction" EXACT [DOID:4707, NCIT:C5423]
xref: DOID:4707 {source="MONDO:equivalentTo"}
xref: NCIT:C5423 {source="MONDO:equivalentTo", source="DOID:4707", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332923 {source="MONDO:equivalentTo", source="NCIT:C5423", source="DOID:4707"}
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C5423"} ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003107 {source="DOID:4707"} ! infratentorial cancer
property_value: exactMatch DOID:4707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332923
property_value: exactMatch NCIT:C5423

[Term]
id: MONDO:0003109
name: foramen magnum meningioma
def: "A meningioma that affects the foramen magnum." [NCIT:P378]
synonym: "foramen magnum meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of foramen magnum" EXACT []
synonym: "meningioma of Foramen magnum" EXACT [NCIT:C5280]
synonym: "meningioma of the Foramen magnum" EXACT [DOID:4708, NCIT:C5280]
xref: DOID:4708 {source="MONDO:equivalentTo"}
xref: NCIT:C5280 {source="MONDO:equivalentTo", source="DOID:4708", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333630 {source="MONDO:equivalentTo", source="NCIT:C5280", source="DOID:4708"}
is_a: MONDO:0002998 {source="DOID:4708", source="NCIT:C5280"} ! skull base meningioma
property_value: exactMatch DOID:4708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333630
property_value: exactMatch NCIT:C5280

[Term]
id: MONDO:0003110
name: skin hemangioma
def: "A hemangioma arising from the skin." [NCIT:C4905]
synonym: "angioma of skin" EXACT [NCIT:C4905]
synonym: "angioma of the skin" EXACT [DOID:471, NCIT:C4905]
synonym: "angiomatous naevus of skin" EXACT [DOID:471]
synonym: "hemangioma of skin" EXACT [NCIT:C4905]
synonym: "hemangioma of the skin" EXACT [NCIT:C4905]
synonym: "hemangioma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin angioma" EXACT [NCIT:C4905]
synonym: "skin hemangioma" EXACT [NCIT:C4905]
synonym: "zone of skin hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:471 {source="MONDO:equivalentTo"}
xref: NCIT:C4905 {source="MONDO:equivalentTo", source="DOID:471", source="exact-label-match"}
xref: SCTID:93471006 {source="MONDO:equivalentTo", source="DOID:471", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0687140 {source="NCIT:C4905", source="MONDO:equivalentTo", source="DOID:471"}
is_a: MONDO:0006500 {source="DOID:471", source="MONDO:Redundant", source="NCIT:C4905", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189195009
property_value: closeMatch http://identifiers.org/snomedct/254773009
property_value: exactMatch DOID:471
property_value: exactMatch http://identifiers.org/snomedct/93471006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687140
property_value: exactMatch NCIT:C4905

[Term]
id: MONDO:0003111
name: gastric neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5696]
synonym: "gastric neuroendocrine neoplasm" EXACT [NCIT:C5696]
synonym: "NET of stomach" EXACT [Orphanet:100075]
synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5696]
synonym: "neuroendocrine neoplasm of the stomach" EXACT [NCIT:C5696]
synonym: "neuroendocrine tumor of stomach" RELATED [Orphanet:100075]
synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715, NCIT:C5696]
synonym: "stomach NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5696]
synonym: "stomach neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: DOID:4715 {source="MONDO:equivalentTo"}
xref: NCIT:C5696 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:4715", source="exact-label-match"}
xref: Orphanet:100075 {source="MONDO:equivalentTo"}
xref: SCTID:721194008 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C1333783 {source="MONDO:equivalentTo", source="NCIT:C5696", source="DOID:4715"}
is_a: MONDO:0018972 {source="Orphanet:100075"} ! rare epithelial tumor of stomach
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5696", source="linkedlifedata"} ! gastric neoplasm
is_a: MONDO:0024503 ! digestive system neuroendocrine neoplasm
relationship: excluded_subClassOf MONDO:0002891 {source="DOID:4715", source="some subtypes are malignant"} ! obsolete gastrointestinal neuroendocrine benign tumor
property_value: exactMatch DOID:4715
property_value: exactMatch http://identifiers.org/snomedct/721194008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333783
property_value: exactMatch NCIT:C5696
property_value: exactMatch Orphanet:100075

[Term]
id: MONDO:0003112
name: malignant gastric germ cell tumor
def: "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." [NCIT:C5486]
synonym: "germ cell tumor of the stomach" EXACT [DOID:4716, NCIT:C6448]
synonym: "malignant gastric germ cell neoplasm" EXACT [NCIT:C5486]
synonym: "malignant gastric germ cell tumor" EXACT [NCIT:C5486]
synonym: "malignant germ cell neoplasm of stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell neoplasm of the stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell tumor of stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell tumor of the stomach" EXACT [NCIT:C5486]
xref: DOID:4716 {source="MONDO:equivalentTo"}
xref: NCIT:C5486 {source="kboom:pr0.79-conf5.41", source="MONDO:equivalentTo"}
xref: UMLS:C1333769 {source="MONDO:equivalentTo", source="DOID:4716"}
xref: UMLS:C1334584 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5486", source="MONDO:equivalentTo"}
is_a: MONDO:0001056 {source="DOID:4716", source="MONDO:Redundant", source="NCIT:C5486"} ! gastric cancer
is_a: MONDO:0003113 {source="NCIT:C5486"} ! extragonadal germ cell cancer
property_value: closeMatch NCIT:C6448
property_value: exactMatch DOID:4716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333769
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334584
property_value: exactMatch NCIT:C5486

[Term]
id: MONDO:0003113
name: extragonadal germ cell cancer
def: "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8881]
synonym: "extragonadal germ cell malignant tumor" EXACT [DOID:4717]
synonym: "extragonadal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant extragonadal germ cell tumor" EXACT [NCIT:C8881]
synonym: "malignant neoplasm of extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant neoplasm of the extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant tumor of extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant tumor of the extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "neoplasm of extragonadal germ cell" EXACT EXCLUDE [DOID:4717]
synonym: "tumor of extragonadal germ cell" RELATED [DOID:4717]
xref: DOID:4717 {source="MONDO:equivalentTo"}
xref: NCIT:C8881 {source="MONDO:equivalentTo", source="DOID:4717"}
xref: UMLS:C1334581 {source="MONDO:equivalentTo", source="DOID:4717", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0006290 {source="MONDO:Redundant", source="MONDOLEX:0003113", source="NCIT:C8881"} ! malignant germ cell tumor
is_a: MONDO:0018201 {source="MONDO:Redundant", source="MONDOLEX:0003113", source="NCIT:C8881"} ! extragonadal germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0855160
property_value: exactMatch DOID:4717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334581
property_value: exactMatch NCIT:C8881

[Term]
id: MONDO:0003114
name: obsolete bone giant cell sarcoma
is_obsolete: true
replaced_by: MONDO:0006287

[Term]
id: MONDO:0003115
name: subglottic hemangioma
def: "A hemangioma arising from the subglottic area." [NCIT:P378]
synonym: "angioma of subglottis" EXACT [NCIT:C6026]
synonym: "angioma of the subglottis" EXACT [NCIT:C6026]
synonym: "hemangioma of subglottis" EXACT [NCIT:C6026]
synonym: "hemangioma of the subglottis" EXACT [DOID:472, NCIT:C6026]
synonym: "subglottic angioma" EXACT [NCIT:C6026]
synonym: "subglottic hemangioma" EXACT [NCIT:C6026]
synonym: "subglottis angioma" EXACT [NCIT:C6026]
synonym: "subglottis hemangioma" EXACT [MONDO:patterns/location, NCIT:C6026]
xref: DOID:472 {source="MONDO:equivalentTo"}
xref: NCIT:C6026 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:472", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336518 {source="MONDO:equivalentTo", source="NCIT:C6026", source="DOID:472"}
is_a: MONDO:0006500 {source="DOID:472", source="MONDO:Redundant", source="NCIT:C6026"} ! hemangioma
is_a: MONDO:0021530 {source="MONDO:Redundant", source="NCIT:C6026"} ! benign neoplasm of subglottis
property_value: exactMatch DOID:472
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336518
property_value: exactMatch NCIT:C6026

[Term]
id: MONDO:0003116
name: obsolete calciphylaxis
is_obsolete: true
replaced_by: MONDO:0017215

[Term]
id: MONDO:0003117
name: somatoform disorder
def: "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." [NCIT:C34956]
synonym: "physiological malfunction arising from mental factor" RELATED [DOID:4737]
synonym: "psychophysiologic disorder" RELATED [DOID:4737]
synonym: "psychosomatic disorder" RELATED [CSP2005:2482-7019, DOID:4737]
synonym: "somatoform disorder" EXACT [NCIT:C34956]
xref: COHD:435784 {source="MONDO:equivalentTo"}
xref: DOID:4737 {source="MONDO:equivalentTo"}
xref: ICD10:F45 {source="DOID:4737"}
xref: ICD10:F45.0 {source="MONDO:superClassOf", source="DOID:4737"}
xref: ICD10:F45.9 {source="DOID:4737"}
xref: ICD9:300.8 {source="DOID:4737"}
xref: ICD9:300.81 {source="MONDO:superClassOf", source="DOID:4737"}
xref: ICD9:306.8 {source="DOID:4737"}
xref: MESH:D013001 {source="MONDO:equivalentTo", source="DOID:4737"}
xref: NCIT:C34956 {source="MONDO:equivalentTo", source="DOID:4737"}
xref: SCTID:31297008 {source="MONDO:equivalentTo", source="DOID:4737", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002025 {source="DOID:4737", source="MESH:D013001", source="NCIT:C34956"} ! psychiatric disorder
property_value: closeMatch http://identifiers.org/snomedct/154892001
property_value: closeMatch http://identifiers.org/snomedct/191743005
property_value: closeMatch http://identifiers.org/snomedct/192035008
property_value: closeMatch http://identifiers.org/snomedct/192430009
property_value: closeMatch http://identifiers.org/snomedct/192431008
property_value: closeMatch http://identifiers.org/snomedct/192437007
property_value: closeMatch http://identifiers.org/snomedct/397795007
property_value: closeMatch http://identifiers.org/snomedct/397826007
property_value: closeMatch http://identifiers.org/snomedct/60368009
property_value: closeMatch http://identifiers.org/snomedct/9514005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029824
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037650
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520482
property_value: exactMatch DOID:4737
property_value: exactMatch http://identifiers.org/mesh/D013001
property_value: exactMatch http://identifiers.org/snomedct/31297008
property_value: exactMatch NCIT:C34956

[Term]
id: MONDO:0003118
name: testicular Brenner tumor
def: "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." [NCIT:P378]
synonym: "testes, rudimentary Brenner tumor" EXACT [MONDO:patterns/location]
synonym: "testis Brenner tumor" EXACT [MONDO:patterns/location]
xref: DOID:4739 {source="MONDO:equivalentTo"}
xref: NCIT:C39953 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:4739"}
xref: UMLS:C1515281 {source="MONDO:equivalentTo", source="DOID:4739"}
is_a: MONDO:0021348 ! neoplasm of testis
is_a: MONDO:0024235 ! Brenner tumor
property_value: exactMatch DOID:4739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515281
property_value: exactMatch NCIT:C39953

[Term]
id: MONDO:0003119
name: obsolete histiocytoid hemangioma
is_obsolete: true
replaced_by: MONDO:0021169

[Term]
id: MONDO:0003120
name: mixed testicular germ cell cancer
def: "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." [NCIT:C6347]
synonym: "mixed germ cell neoplasm of testis" RELATED [NCIT:C6347]
synonym: "mixed germ cell neoplasm of the testis" RELATED [NCIT:C6347]
synonym: "mixed germ cell tumor" RELATED [ONCOTREE:MGCT]
synonym: "mixed germ cell tumor of testis" RELATED [DOID:4743, NCIT:C6347]
synonym: "mixed germ cell tumor of the testis" RELATED [NCIT:C6347]
synonym: "mixed testicular germ cell tumor" RELATED [DOID:4743]
synonym: "testicular germ cell tumor (mixed)" RELATED [NCIT:C6347]
synonym: "testicular mixed germ cell neoplasm" RELATED [NCIT:C6347]
synonym: "testicular mixed germ cell tumor" RELATED [NCIT:C6347]
synonym: "testis mixed germ cell tumor" RELATED [MONDO:patterns/location]
xref: DOID:4743 {source="MONDO:equivalentTo"}
xref: NCIT:C6347 {source="DesignPattern", source="DOID:4743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:MGCT {source="MONDO:equivalentTo"}
xref: UMLS:C1336720 {source="DOID:4743", source="MONDO:equivalentTo", source="NCIT:C6347"}
is_a: MONDO:0003510 {source="DOID:4743", source="MONDO:Redundant", source="MONDOLEX:0003120", source="NCIT:C6347"} ! malignant testicular germ cell tumor
is_a: MONDO:0015864 {source="MONDO:Redundant", source="MONDOLEX:0003120", source="NCIT:C6347"} ! mixed germ cell tumor
property_value: exactMatch DOID:4743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336720
property_value: exactMatch NCIT:C6347

[Term]
id: MONDO:0003121
name: middle cranial fossa meningioma
def: "A meningioma that affects the middle cranial fossa." [NCIT:P378]
synonym: "meningioma (disease) of middle cranial fossa" EXACT []
synonym: "meningioma of middle cranial fossa" EXACT [NCIT:C5586]
synonym: "meningioma of the middle cranial fossa" EXACT [DOID:4749, NCIT:C5586]
synonym: "middle cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4749 {source="MONDO:equivalentTo"}
xref: NCIT:C5586 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:4749"}
xref: UMLS:C1334757 {source="MONDO:equivalentTo", source="NCIT:C5586", source="DOID:4749"}
is_a: MONDO:0016642 {source="DOID:4749", source="MONDO:Redundant", source="MONDOLEX:0003121", source="NCIT:C5586/inferred"} ! meningioma (disease)
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:4749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334757
property_value: exactMatch NCIT:C5586

[Term]
id: MONDO:0003122
name: striatonigral degeneration
def: "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." [NCIT:C125695]
xref: DOID:4751 {source="MONDO:equivalentTo"}
xref: ICD10:G23.2 {source="DOID:4751", source="MONDO:equivalentTo"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020955 {source="DOID:4751", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125695 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:271930 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:29618004 {source="DOID:4751", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270733 {source="DOID:4751", source="MONDO:equivalentTo", source="NCIT:C125695"}
is_a: MONDO:0007803 {source="DOID:4751", source="MESH:D020955", source="NCIT:C125695"} ! multiple system atrophy
property_value: exactMatch DOID:4751
property_value: exactMatch http://identifiers.org/mesh/D020955
property_value: exactMatch http://identifiers.org/snomedct/29618004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270733
property_value: exactMatch NCIT:C125695

[Term]
id: MONDO:0003123
name: obsolete multiple system atrophy
is_obsolete: true
replaced_by: MONDO:0007803

[Term]
id: MONDO:0003124
name: testicular Leydig cell tumor
def: "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." [NCIT:C6356]
synonym: "Leydig cell neoplasm of testis" RELATED [NCIT:C6356]
synonym: "Leydig cell neoplasm of the testis" RELATED [NCIT:C6356]
synonym: "Leydig cell tumor of testis" EXACT []
synonym: "Leydig cell tumor of testis" RELATED [NCIT:C6356]
synonym: "Leydig cell tumor of the testis" RELATED [NCIT:C6356]
synonym: "testicular Leydig cell neoplasm" EXACT [DOID:4756, NCIT:C6356]
synonym: "testicular Leydig cell tumor" EXACT [NCIT:C6356]
synonym: "testis Leydig cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:4756 {source="MONDO:equivalentTo"}
xref: EFO:1000569 {source="MONDO:equivalentTo"}
xref: NCIT:C6356 {source="DOID:4756", source="MONDO:equivalentTo", source="NCIT:C6356"}
xref: SCTID:67871000119105 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="DOID:4756", source="MONDO:equivalentTo"}
xref: UMLS:C0863027 {source="DOID:4756", source="MONDO:equivalentTo", source="NCIT:C6356"}
is_a: MONDO:0003125 {source="DOID:4756/inferred", source="MONDO:Redundant", source="NCIT:C6356", source="OWLReasoner:2017"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0006266 {source="DOID:4756", source="MONDO:Redundant", source="NCIT:C6356"} ! Leydig cell tumor
property_value: exactMatch DOID:4756
property_value: exactMatch http://identifiers.org/snomedct/67871000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0863027
property_value: exactMatch NCIT:C6356

[Term]
id: MONDO:0003125
name: testicular sex cord-stromal neoplasm
def: "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." [NCIT:C6358]
synonym: "sex cord-stromal neoplasm" RELATED [DOID:4757]
synonym: "Sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358]
synonym: "Sex cord-stromal neoplasm of the testis" RELATED [NCIT:C6358]
synonym: "Sex cord-stromal tumor of testis" EXACT [DOID:4757, NCIT:C6358]
synonym: "sex cord-stromal tumor of testis" EXACT []
synonym: "Sex cord-stromal tumor of the testis" RELATED [NCIT:C6358]
synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358]
synonym: "testicular Sex cord-stromal tumor" RELATED [NCIT:C6358]
synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location]
xref: DOID:4757 {source="MONDO:equivalentTo"}
xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"}
xref: SCTID:702406000 {source="MONDO:equivalentTo", source="DOID:4757"}
xref: UMLS:C3840076 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"}
is_a: MONDO:0006055 {source="DOID:4757", source="MONDO:Redundant", source="NCIT:C6358"} ! sex cord-stromal tumor
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C6358", source="linkedlifedata"} ! neoplasm of testis
property_value: exactMatch DOID:4757
property_value: exactMatch http://identifiers.org/snomedct/702406000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3840076
property_value: exactMatch NCIT:C6358

[Term]
id: MONDO:0003126
name: breast hemangioma
def: "A capillary or cavernous hemangioma arising from the breast." [NCIT:C5353]
synonym: "angioma of breast" EXACT [NCIT:C5353]
synonym: "angioma of the breast" EXACT [DOID:476, NCIT:C5353]
synonym: "breast angioma" EXACT [NCIT:C5353]
synonym: "breast hemangioma" EXACT [MONDO:patterns/location, NCIT:C5353]
synonym: "hemangioma of breast" EXACT [DOID:476, NCIT:C5353]
synonym: "hemangioma of the breast" EXACT [NCIT:C5353]
xref: DOID:476 {source="MONDO:equivalentTo"}
xref: NCIT:C5353 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:476"}
xref: UMLS:C0853715 {source="NCIT:C5353", source="MONDO:equivalentTo", source="DOID:476"}
is_a: MONDO:0000620 {source="DOID:476", source="MONDO:Redundant", source="NCIT:C5353"} ! breast benign neoplasm
is_a: MONDO:0006500 {source="DOID:476", source="MONDO:Redundant", source="NCIT:C5353"} ! hemangioma
property_value: exactMatch DOID:476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853715
property_value: exactMatch NCIT:C5353

[Term]
id: MONDO:0003127
name: embryoma
comment: Editor note: consider merging with parent class. Wikipedia says: It is not a precise term, and it is not commonly used in modern medical literature. Embryomas have been defined as: "Adult neoplasms expressing one or more embryo-exclusive genes"
synonym: "blastoma" RELATED [DOID:4766]
synonym: "embryoma" EXACT EXCLUDE [DOID:4766]
xref: DOID:4766 {source="MONDO:equivalentTo"}
xref: UMLS:C0936282 {source="MONDO:equivalentTo", source="DOID:4766"}
is_a: MONDO:0005564 {source="DOID:4766", source="NCIT:C8997"} ! embryonal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/86049000
property_value: exactMatch DOID:4766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936282

[Term]
id: MONDO:0003128
name: classic pulmonary blastoma
def: "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." [NCIT:P378]
synonym: "biphasic pulmonary blastoma" EXACT [NCIT:C36054]
synonym: "classic pulmonary blastoma" EXACT [NCIT:C36054]
xref: DOID:4767 {source="MONDO:equivalentTo"}
xref: NCIT:C36054 {source="DOID:4767", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332556 {source="NCIT:C36054", source="DOID:4767", source="MONDO:equivalentTo"}
is_a: MONDO:0005933 {source="DOID:4767", source="MONDOLEX:0003128", source="NCIT:C36054"} ! pulmonary blastoma
property_value: exactMatch DOID:4767
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332556
property_value: exactMatch NCIT:C36054

[Term]
id: MONDO:0003129
name: epithelial predominant pulmonary blastoma
def: "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." [NCIT:C36053]
synonym: "epithelial predominant pulmonary blastoma" EXACT [NCIT:C36053]
xref: DOID:4768 {source="MONDO:equivalentTo"}
xref: NCIT:C36053 {source="MONDO:equivalentTo", source="DOID:4768", source="exact-label-match"}
xref: UMLS:C1333420 {source="NCIT:C36053", source="MONDO:equivalentTo", source="DOID:4768"}
is_a: MONDO:0005933 {source="DOID:4768", source="MONDOLEX:0003129", source="NCIT:C36053"} ! pulmonary blastoma
property_value: exactMatch DOID:4768
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333420
property_value: exactMatch NCIT:C36053

[Term]
id: MONDO:0003130
name: mesoblastic nephroma
def: "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." [MESH:D018201]
synonym: "mesoblastic nephroma" EXACT [DOID:4772, NCIT:C3731]
synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [DOID:4772]
xref: DOID:4772 {source="MONDO:equivalentTo"}
xref: ICD9:236.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018201 {source="DOID:4772", source="MONDO:equivalentTo"}
xref: SCTID:307604008 {source="DOID:4772", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0206628 {source="DOID:4772", source="MONDO:equivalentTo"}
is_a: MONDO:0002367 {source="DOID:4772", source="MESH:D018201"} ! kidney cancer
property_value: closeMatch http://identifiers.org/snomedct/11793003
property_value: exactMatch DOID:4772
property_value: exactMatch http://identifiers.org/mesh/D018201
property_value: exactMatch http://identifiers.org/snomedct/307604008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206628

[Term]
id: MONDO:0003131
name: obsolete congenital mesoblastic nephroma
is_obsolete: true
replaced_by: MONDO:0017043

[Term]
id: MONDO:0003132
name: obsolete rapidly progressive glomerulonephritis
is_obsolete: true
replaced_by: MONDO:0017236

[Term]
id: MONDO:0003133
name: exudative glomerulonephritis
def: "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." [NCIT:P378]
xref: DOID:4777 {source="MONDO:equivalentTo"}
xref: NCIT:C35706 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4777"}
xref: UMLS:C0546345 {source="NCIT:C35706", source="MONDO:equivalentTo", source="DOID:4777"}
is_a: MONDO:0002462 {source="DOID:4777", source="MONDOLEX:0003133", source="NCIT:C35706"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546345
property_value: exactMatch NCIT:C35706

[Term]
id: MONDO:0003134
name: proliferative glomerulonephritis
def: "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis." [NCIT:P378]
xref: DOID:4778 {source="MONDO:equivalentTo"}
xref: ICD9:583.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35281 {source="DOID:4778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:441815006 {source="DOID:4778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0235618 {source="DOID:4778", source="MONDO:equivalentTo", source="NCIT:C35281"}
is_a: MONDO:0002462 {source="DOID:4778", source="MONDOLEX:0003134", source="NCIT:C35281", source="linkedlifedata"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4778
property_value: exactMatch http://identifiers.org/snomedct/441815006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235618
property_value: exactMatch NCIT:C35281

[Term]
id: MONDO:0003135
name: focal embolic glomerulonephritis
def: "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia." [NCIT:P378]
xref: DOID:4779 {source="MONDO:equivalentTo"}
xref: NCIT:C35707 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4779"}
xref: UMLS:C0238143 {source="NCIT:C35707", source="MONDO:equivalentTo", source="DOID:4779"}
is_a: MONDO:0002462 {source="DOID:4779", source="MONDOLEX:0003135", source="NCIT:C35707"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238143
property_value: exactMatch NCIT:C35707

[Term]
id: MONDO:0003136
name: anti-basement membrane glomerulonephritis
def: "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function." [NCIT:P378]
synonym: "anti-GBM antibody disease" EXACT [NCIT:C35798]
synonym: "anti-glomerular basement Membrane antibody disease" EXACT [NCIT:C35798]
xref: DOID:4780 {source="MONDO:equivalentTo"}
xref: NCIT:C35798 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4780"}
xref: UMLS:C1332309 {source="MONDO:equivalentTo", source="NCIT:C35798", source="DOID:4780"}
is_a: MONDO:0002462 {source="DOID:4780", source="MONDOLEX:0003136", source="NCIT:C35798"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332309
property_value: exactMatch NCIT:C35798

[Term]
id: MONDO:0003137
name: diffuse glomerulonephritis
def: "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure." [NCIT:P378]
xref: DOID:4781 {source="MONDO:equivalentTo"}
xref: NCIT:C35799 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4781"}
xref: UMLS:C0859036 {source="MONDO:equivalentTo", source="NCIT:C35799", source="DOID:4781"}
is_a: MONDO:0002462 {source="DOID:4781", source="MONDOLEX:0003137", source="NCIT:C35799"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859036
property_value: exactMatch NCIT:C35799

[Term]
id: MONDO:0003138
name: subacute glomerulonephritis
def: "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." [NCIT:P378]
xref: DOID:4782 {source="MONDO:equivalentTo"}
xref: NCIT:C35801 {source="DOID:4782", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:123609007 {source="DOID:4782", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263744 {source="DOID:4782", source="MONDO:equivalentTo", source="NCIT:C35801"}
is_a: MONDO:0002462 {source="DOID:4782", source="MONDOLEX:0003138", source="NCIT:C35801", source="linkedlifedata"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4782
property_value: exactMatch http://identifiers.org/snomedct/123609007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263744
property_value: exactMatch NCIT:C35801

[Term]
id: MONDO:0003139
name: mesangial proliferative glomerulonephritis
def: "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease , but some experts believe it is a separate condition. It may present with nephrotic syndrome , which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy , lupus nephritis , and C1q nephropathy .However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil , and/or cyclophosphamide , and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease , which can progress to end stage renal failure ." [https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis]
subset: gard_rare {source="GARD:0009580"}
synonym: "glomerulonephritis - mesangial proliferative" RELATED [GARD:0009580]
synonym: "mesangial proliferative GN" RELATED [GARD:0009580]
synonym: "Mesangioproliferative glomerulonephritis" RELATED [GARD:0009580]
xref: DOID:4783 {source="MONDO:equivalentTo"}
xref: GARD:0009580 {source="MONDO:equivalentTo"}
xref: NCIT:C35445 {source="DOID:4783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:35546006 {source="DOID:4783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0221238 {source="DOID:4783", source="MONDO:equivalentTo", source="NCIT:C35445"}
is_a: MONDO:0002462 {source="DOID:4783", source="MONDOLEX:0003139", source="NCIT:C35445", source="linkedlifedata"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4783
property_value: exactMatch http://identifiers.org/snomedct/35546006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221238
property_value: exactMatch NCIT:C35445
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis xsd:anyURI {source="GARD:0009580"}

[Term]
id: MONDO:0003140
name: immune-complex glomerulonephritis
def: "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." [NCIT:P378]
synonym: "immune Complex glomerulonephritis" EXACT [DOID:4784, NCIT:C35800]
xref: DOID:4784 {source="MONDO:equivalentTo"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35800 {source="DOID:4784", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:123752003 {source="DOID:4784", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0744421 {source="DOID:4784", source="MONDO:equivalentTo", source="NCIT:C35800"}
is_a: MONDO:0002462 {source="DOID:4784", source="MONDOLEX:0003140", source="NCIT:C35800", source="linkedlifedata"} ! glomerulonephritis (disease)
property_value: exactMatch DOID:4784
property_value: exactMatch http://identifiers.org/snomedct/123752003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744421
property_value: exactMatch NCIT:C35800

[Term]
id: MONDO:0003141
name: cerebellopontine angle embryonal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." [NCIT:C5436, NCIT:P378]
synonym: "C-P angle PNET" EXACT [NCIT:C5436]
synonym: "C-P angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "C-P angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle PNET" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "cerebellopontine angle embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5436]
synonym: "cerebellopontine angle embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5436]
synonym: "cerebellopontine angle PNET" EXACT [DOID:4787, NCIT:C5436]
synonym: "cerebellopontine angle primitive neuroectodermal" RELATED [DOID:4787]
synonym: "cerebellopontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "cerebellopontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the cerebellopontine angle" EXACT [NCIT:C5436]
xref: DOID:4787 {source="MONDO:equivalentTo"}
xref: NCIT:C5436 {source="DOID:4787", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332904 {source="DOID:4787", source="MONDO:equivalentTo", source="NCIT:C5436"}
is_a: MONDO:0002553 {source="DOID:4787", source="NCIT:C5436"} ! cerebellopontine angle tumor
is_a: MONDO:0003107 {source="DOID:4787/inferred", source="MONDO:Redundant", source="NCIT:C5436"} ! infratentorial cancer
property_value: exactMatch DOID:4787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332904
property_value: exactMatch NCIT:C5436

[Term]
id: MONDO:0003142
name: intracranial primitive neuroectodermal tumor
def: "A primitive neuroectodermal tumor that involves the brain." [MONDO:patterns/location]
synonym: "brain primitive neuroectodermal tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "intracranial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5817]
synonym: "intracranial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5817]
synonym: "intracranial PNET" EXACT [DOID:4788, NCIT:C5817]
synonym: "intracranial primitive neuroectodermal neoplasm" EXACT [NCIT:C5817]
synonym: "intracranial primitive neuroectodermal tumor" EXACT [NCIT:C5817]
synonym: "primitive neuroectodermal tumor of brain" EXACT [MONDO:design_pattern]
xref: DOID:4788 {source="MONDO:equivalentTo"}
xref: NCIT:C5817 {source="MONDO:equivalentTo", source="DOID:4788"}
xref: UMLS:C1334246 {source="NCIT:C5817", source="MONDO:equivalentTo", source="DOID:4788"}
is_a: MONDO:0000640 {source="DOID:4788", source="MONDO:Redundant", source="NCIT:C5817"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C5817"} ! brain cancer
property_value: exactMatch DOID:4788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334246
property_value: exactMatch NCIT:C5817

[Term]
id: MONDO:0003143
name: angiokeratoma
def: "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." [NCIT:P378]
synonym: "angiokeratoma (morphologic abnormality)" EXACT [DOID:479]
synonym: "angiokeratoma of skin" EXACT [NCIT:C4488]
synonym: "angiokeratoma of the skin" EXACT [NCIT:C4488]
synonym: "cutaneous angiokeratoma" EXACT [DOID:479, NCIT:C4488]
synonym: "skin angiokeratoma" EXACT [DOID:479]
xref: CSP:2007-0683 {source="DOID:479"}
xref: DOID:479 {source="MONDO:equivalentTo"}
xref: MESH:D000794 {source="DOID:479", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4488 {source="DOID:479", source="MONDO:kboom-pr-0.91/0.77/0.63", source="MONDO:equivalentTo"}
xref: SCTID:254788004 {source="DOID:479", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002985 {source="DOID:479", source="MONDO:equivalentTo"}
xref: UMLS:C0346075 {source="DOID:479", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4488"}
is_a: MONDO:0003110 {source="DOID:479", source="linkedlifedata"} ! skin hemangioma
property_value: closeMatch http://identifiers.org/snomedct/26810009
property_value: closeMatch NCIT:C2874
property_value: exactMatch DOID:479
property_value: exactMatch http://identifiers.org/mesh/D000794
property_value: exactMatch http://identifiers.org/snomedct/254788004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346075
property_value: exactMatch NCIT:C4488

[Term]
id: MONDO:0003144
name: medulloepithelioma
def: "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting." [NCIT:C4327]
subset: ordo_disease {source="Orphanet:251883"}
synonym: "central nervous system medulloepithelioma" EXACT [NCIT:C4327]
synonym: "Diktyoma, malignant" EXACT [DOID:4790]
synonym: "MDEP" RELATED [ONCOTREE:MDEP]
synonym: "medulloepithelioma NOS (morphologic abnormality)" EXACT [DOID:4790]
synonym: "medulloepithelioma of the central nervous system" EXACT [MONDO:0016716]
synonym: "medulloepithelioma, central nervous system" EXACT [DOID:4790, NCIT:C4327]
xref: DOID:4790 {source="MONDO:equivalentTo"}
xref: NCIT:C4327 {source="MONDO:equivalentTo", source="DOID:4790"}
xref: ONCOTREE:MDEP {source="MONDO:equivalentTo"}
xref: Orphanet:251883 {source="MONDO:equivalentTo"}
xref: SCTID:715903004 {source="MONDO:kboom-pr-1.00/0.84/14.94", source="MONDO:equivalentTo"}
xref: UMLS:C0334596 {source="MONDO:equivalentTo", source="Orphanet:251883", source="ORDO:251883/e", source="DOID:4790", source="NCIT:C4327"}
is_a: MONDO:0016713 {source="Orphanet:251883"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0000640 {source="DOID:4790"} ! central nervous system primitive neuroectodermal neoplasm
property_value: closeMatch http://identifiers.org/mesh/D018242
property_value: closeMatch http://identifiers.org/snomedct/189932005
property_value: closeMatch http://identifiers.org/snomedct/39005004
property_value: closeMatch NCIT:C66808
property_value: exactMatch DOID:4790
property_value: exactMatch http://identifiers.org/snomedct/715903004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334596
property_value: exactMatch NCIT:C4327
property_value: exactMatch Orphanet:251883

[Term]
id: MONDO:0003145
name: supratentorial primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." [NCIT:P378]
synonym: "CNS/supratentorial PNET" EXACT [NCIT:C6968]
synonym: "supratent. primitive neuro. tumor" EXACT [NCIT:C6968]
synonym: "supratentorial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C6968]
synonym: "supratentorial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C6968]
synonym: "supratentorial PNET" EXACT [DOID:4791, NCIT:C6968]
synonym: "supratentorial primitive neuroectodermal tumor" EXACT [NCIT:C6968]
xref: DOID:4791 {source="MONDO:equivalentTo"}
xref: GARD:0007366 {source="MONDO:equivalentTo"}
xref: ICD9:209.30 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6968 {source="MONDO:equivalentTo", source="DOID:4791", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:699318007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4791"}
xref: UMLS:C1336538 {source="MONDO:equivalentTo", source="NCIT:C6968", source="DOID:4791"}
is_a: MONDO:0002071 {source="DOID:4791", source="NCIT:C6968"} ! supratentorial cancer
property_value: closeMatch http://identifiers.org/snomedct/39781001
property_value: exactMatch DOID:4791
property_value: exactMatch http://identifiers.org/snomedct/699318007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336538
property_value: exactMatch NCIT:C6968

[Term]
id: MONDO:0003146
name: obsolete ependymoblastoma
is_obsolete: true
replaced_by: MONDO:0016715

[Term]
id: MONDO:0003147
name: space motion sickness
def: "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" [MESH:D018489]
synonym: "adaptation syndrome, Space" EXACT [MESH:D018489]
synonym: "motion sickness, Space" EXACT [MESH:D018489]
synonym: "Space adaptation syndrome" EXACT [MESH:D018489]
synonym: "syndrome, Space adaptation" EXACT [MESH:D018489]
xref: DOID:4796 {source="MONDO:equivalentTo"}
xref: EFO:1001188 {source="MONDO:equivalentTo"}
xref: MESH:D018489 {source="DOID:4796", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0242700 {source="DOID:4796", source="MONDO:equivalentTo"}
is_a: MONDO:0008015 {source="DOID:4796", source="EFO:1001188", source="MESH:D018489"} ! motion sickness
property_value: closeMatch http://identifiers.org/snomedct/21162009
property_value: exactMatch DOID:4796
property_value: exactMatch http://identifiers.org/mesh/D018489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242700

[Term]
id: MONDO:0003148
name: obsolete SM-AHNMD
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1270 xsd:string
is_obsolete: true
replaced_by: MONDO:0020332

[Term]
id: MONDO:0003149
name: obsolete aggressive systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0020333

[Term]
id: MONDO:0003150
name: male reproductive system disease
def: "A disease involving the male reproductive system." [MONDO:DesignPattern]
synonym: "disease of male reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of male reproductive system" EXACT []
synonym: "disorder of Male reproductive system" EXACT [NCIT:C27019]
synonym: "disorder of male reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of male reproductive system" RELATED [MONDO:patterns/location_top]
synonym: "male reproductive disease" EXACT [DOID:48]
synonym: "Male reproductive system disease" EXACT [NCIT:C27019]
synonym: "male reproductive system disease" EXACT [MONDO:patterns/location]
synonym: "male reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Male reproductive system disorder" EXACT [NCIT:C27019]
xref: DOID:48 {source="MONDO:equivalentTo"}
xref: ICD10:N40.N51 {source="MONDO:equivalentTo"}
xref: ICD10:N50.9 {source="DOID:48"}
xref: ICD9:600-608.99 {source="DOID:48"}
xref: ICD9:608.9 {source="DOID:48"}
xref: MESH:D005832 {source="DOID:48", source="MONDO:equivalentTo"}
xref: NCIT:C27019 {source="MONDO:equivalentTo"}
xref: SCTID:363194005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005039 {source="DOID:48", source="MONDO:Redundant", source="NCIT:C27019", source="linkedlifedata"} ! reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/155905004
property_value: closeMatch http://identifiers.org/snomedct/155933004
property_value: closeMatch http://identifiers.org/snomedct/155945008
property_value: closeMatch http://identifiers.org/snomedct/198089001
property_value: closeMatch http://identifiers.org/snomedct/198553004
property_value: closeMatch http://identifiers.org/snomedct/64557000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017412
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236099
property_value: exactMatch DOID:48
property_value: exactMatch http://identifiers.org/mesh/D005832
property_value: exactMatch http://identifiers.org/snomedct/363194005
property_value: exactMatch NCIT:C27019

[Term]
id: MONDO:0003151
name: obsolete movement disease
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0003152
name: adult brainstem gliosarcoma
synonym: "adult brain stem gliosarcoma" EXACT [DOID:4812, NCIT:C9370]
synonym: "adult brainstem gliosarcoma" EXACT [NCIT:C9370]
xref: DOID:4812 {source="MONDO:equivalentTo"}
xref: NCIT:C9370 {source="MONDO:equivalentTo", source="DOID:4812", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1377914 {source="MONDO:equivalentTo", source="DOID:4812", source="NCIT:C9370"}
is_a: MONDO:0003153 {source="DOID:4812", source="NCIT:C9370"} ! adult brainstem glioma
property_value: exactMatch DOID:4812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377914
property_value: exactMatch NCIT:C9370

[Term]
id: MONDO:0003153
name: adult brainstem glioma
def: "A brain stem glioma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult brain stem glioma" EXACT [NCIT:C9091]
synonym: "adult brainstem glioma" EXACT [NCIT:C9091]
synonym: "adult brainstem neuroglial neoplasm" EXACT [NCIT:C9091]
synonym: "adult brainstem neuroglial tumor" EXACT [DOID:4813, NCIT:C9091]
synonym: "brain stem glioma" EXACT [NCIT:C9091]
synonym: "brain stem glioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "glioma of adult brain stem" EXACT [NCIT:C9091]
synonym: "glioma of the adult brain stem" EXACT [NCIT:C9091]
xref: DOID:4813 {source="MONDO:equivalentTo"}
xref: NCIT:C9091 {source="MONDO:equivalentTo", source="DOID:4813"}
xref: UMLS:C0278873 {source="MONDO:equivalentTo", source="NCIT:C9091", source="DOID:4813"}
is_a: MONDO:0002911 {source="DOID:4813", source="MONDO:Redundant", source="NCIT:C9091"} ! brain stem glioma
is_a: MONDO:0024797 ! adult brain stem neoplasm
property_value: exactMatch DOID:4813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278873
property_value: exactMatch NCIT:C9091

[Term]
id: MONDO:0003154
name: hemangioma of peripheral nerve
def: "A hemangioma arising from the peripheral nerves." [NCIT:C27507]
synonym: "hemangioma of nerve" EXACT [MONDO:design_pattern]
synonym: "hemangioma of peripheral nerve" EXACT [NCIT:C27507]
synonym: "nerve hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:482 {source="MONDO:equivalentTo"}
xref: NCIT:C27507 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:482", source="exact-label-match"}
xref: UMLS:C1333956 {source="MONDO:equivalentTo", source="DOID:482", source="NCIT:C27507"}
is_a: MONDO:0003241 ! central nervous system hemangioma
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch DOID:482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333956
property_value: exactMatch NCIT:C27507

[Term]
id: MONDO:0003155
name: cavernous hemangioma
alt_id: MONDO:0006124
def: "A hemangioma characterized by the presence of cavernous vascular spaces." [NCIT:P378]
synonym: "cavernoma" EXACT [DOID:483, NCIT:C3086]
synonym: "cavernous angioma" EXACT [NCIT:C3086]
synonym: "cavernous haemangioma" EXACT [DOID:483]
synonym: "cavernous hemangioma" EXACT [NCIT:C3086]
synonym: "cavernous hemangioma (morphologic abnormality)" EXACT [DOID:483]
xref: DOID:483 {source="MONDO:equivalentTo"}
xref: EFO:1000151 {source="MONDO:equivalentTo"}
xref: HP:0001048 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D18.0 {source="DOID:483"}
xref: ICDO:9121/0 {source="NCIT:C3086"}
xref: MESH:D006392 {source="MONDO:equivalentTo", source="DOID:483"}
xref: NCIT:C3086 {source="EFO:1000151", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:483"}
xref: SCTID:416824008 {source="MONDO:kboom-pr-0.88/0.76/0.05", source="MONDO:equivalentTo", source="DOID:483"}
xref: UMLS:C0018920 {source="NCIT:C3086", source="MONDO:equivalentTo", source="DOID:483"}
is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0003159 {source="DOID:483", source="MESH:D006392"} ! vascular hemostatic disease
is_a: MONDO:0006500 {source="EFO:1000151", source="MESH:D006392", source="NCIT:C3086", source="linkedlifedata"} ! hemangioma
property_value: closeMatch http://identifiers.org/snomedct/157014007
property_value: closeMatch http://identifiers.org/snomedct/189192007
property_value: closeMatch http://identifiers.org/snomedct/254781005
property_value: closeMatch http://identifiers.org/snomedct/33377007
property_value: closeMatch http://identifiers.org/snomedct/67668002
property_value: exactMatch DOID:483
property_value: exactMatch http://identifiers.org/mesh/D006392
property_value: exactMatch http://identifiers.org/snomedct/416824008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018920
property_value: exactMatch NCIT:C3086

[Term]
id: MONDO:0003156
name: obsolete adenosquamous carcinoma
is_obsolete: true
replaced_by: MONDO:0006074

[Term]
id: MONDO:0003157
name: Gorham disease
def: "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." [MESH:D010015]
synonym: "disappearing bone disease" EXACT [DOID:4837]
synonym: "essential osteolysis" EXACT [DOID:4837]
synonym: "Gorham disease" EXACT EXCLUDE [DOID:4837]
synonym: "Gorham's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gorham-Stout syndrome" RELATED [DOID:4837]
synonym: "massive osteolysis" EXACT [DOID:4837]
synonym: "phantom bone disease" EXACT [DOID:4837]
xref: DOID:4837 {source="MONDO:equivalentTo"}
xref: ICD9:733.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:240161003 {source="MONDO:equivalentTo", source="DOID:4837", source="MONDO:kboom-pr-0.93/0.83/0.31"}
xref: UMLS:C0029436 {source="MONDO:equivalentTo", source="DOID:4837"}
is_a: MONDO:0002254 {source="DOID:4837", source="MONDOLEX:0003157"} ! syndromic disease
property_value: closeMatch http://identifiers.org/mesh/D010015
property_value: exactMatch DOID:4837
property_value: exactMatch http://identifiers.org/snomedct/240161003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029436

[Term]
id: MONDO:0003158
name: malignant myoepithelioma
def: "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C7596]
subset: gard_rare {source="GARD:0010558"}
synonym: "malignant myoepithelioma" EXACT [GARD:0010558, NCIT:C7596]
synonym: "myoepithelial carcinoma" EXACT [NCIT:C7596]
synonym: "myoepithelioma carcinoma" RELATED [GARD:0010558]
synonym: "myoepithelioma, malignant" EXACT [NCIT:C7596]
synonym: "soft tissue myoepithelial carcinoma" RELATED [ONCOTREE:STMYEC]
xref: DOID:4838 {source="MONDO:equivalentTo"}
xref: GARD:0010558 {source="MONDO:equivalentTo"}
xref: ICDO:8982/3 {source="NCIT:C7596"}
xref: NCIT:C7596 {source="MONDO:equivalentTo", source="DOID:4838", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:STMYEC {source="MONDO:equivalentTo"}
xref: UMLS:C0334699 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7596", source="MONDO:equivalentTo", source="DOID:4838"}
is_a: MONDO:0002380 {source="MONDOLEX:0003158", source="NCIT:C7596"} ! myoepithelial tumor
is_a: MONDO:0004993 {source="DOID:4838", source="MONDOLEX:0003158", source="NCIT:C7596"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128884000
property_value: closeMatch http://identifiers.org/snomedct/24292006
property_value: exactMatch DOID:4838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334699
property_value: exactMatch NCIT:C7596
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma xsd:anyURI {source="GARD:0010558"}

[Term]
id: MONDO:0003159
name: vascular hemostatic disease
def: "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." [MESH:D020141]
synonym: "disorder, vascular hemostatic" EXACT [MESH:D020141]
synonym: "disorders, vascular hemostatic" EXACT [MESH:D020141]
synonym: "hemostatic disorder" EXACT [MESH:D020141]
synonym: "hemostatic disorder, vascular" EXACT [MESH:D020141]
synonym: "hemostatic disorders, vascular" EXACT [MESH:D020141]
synonym: "vascular hemostatic disorder" EXACT [MESH:D020141]
synonym: "vascular hemostatic disorders" EXACT [MESH:D020141]
xref: DOID:484 {source="MONDO:equivalentTo"}
xref: MESH:D020141 {source="MONDO:equivalentTo", source="DOID:484"}
xref: SCTID:21112004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92", source="DOID:484"}
xref: UMLS:C0600502 {source="MONDO:equivalentTo", source="DOID:484"}
is_a: MONDO:0002243 {source="DOID:484", source="MESH:D020141", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemorrhagic disease
is_a: MONDO:0005385 {source="MESH:D020141"} ! vascular disease
property_value: exactMatch DOID:484
property_value: exactMatch http://identifiers.org/mesh/D020141
property_value: exactMatch http://identifiers.org/snomedct/21112004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600502

[Term]
id: MONDO:0003160
name: obsolete sebaceous carcinoma
def: "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310]
is_obsolete: true
replaced_by: MONDO:0006962

[Term]
id: MONDO:0003161
name: obsolete benign ependymoma
is_obsolete: true
replaced_by: MONDO:0016698

[Term]
id: MONDO:0003162
name: obsolete pilomyxoid astrocytoma
is_obsolete: true
replaced_by: MONDO:0016692

[Term]
id: MONDO:0003163
name: cauda equina intradural extramedullary astrocytoma
synonym: "intradural extramedullary astrocytic tumor of the Cauda equina" EXACT [DOID:4846, NCIT:C5408]
synonym: "intradural extramedullary astrocytoma of Cauda equina" EXACT [NCIT:C5408]
synonym: "intradural extramedullary astrocytoma of the Cauda equina" EXACT [NCIT:C5408]
synonym: "intradural extramedullary Cauda equina astrocytoma" EXACT [NCIT:C5408]
xref: DOID:4846 {source="MONDO:equivalentTo"}
xref: NCIT:C5408 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65", source="DOID:4846"}
xref: UMLS:C1334254 {source="MONDO:equivalentTo", source="DOID:4846", source="NCIT:C5408"}
is_a: MONDO:0003164 {source="DOID:4846", source="NCIT:C5408"} ! cauda equina neoplasm
is_a: MONDO:0019781 {source="MONDO:Redundant", source="MONDOLEX:0003163", source="NCIT:C5408"} ! astrocytoma (excluding glioblastoma)
property_value: exactMatch DOID:4846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334254
property_value: exactMatch NCIT:C5408

[Term]
id: MONDO:0003164
name: cauda equina neoplasm
def: "A neoplasm involving a cauda equina." [MONDO:patterns/neoplasm]
synonym: "cauda equina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Cauda equina neoplasms" EXACT [NCIT:C5479]
synonym: "cauda equina tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of cauda equina" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Cauda equina" EXACT [NCIT:C5479]
synonym: "tumor of Cauda equina" EXACT [NCIT:C5479]
synonym: "tumor of cauda equina" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Cauda equina" EXACT [DOID:4847, NCIT:C5479]
xref: DOID:4847 {source="MONDO:equivalentTo"}
xref: NCIT:C5479 {source="MONDO:equivalentTo", source="DOID:4847", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:126963001 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo", source="DOID:4847"}
xref: UMLS:C1263892 {source="MONDO:equivalentTo", source="NCIT:C5479", source="DOID:4847"}
is_a: MONDO:0003103 ! nerve root neoplasm
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:4847"} ! spinal cord cancer
property_value: exactMatch DOID:4847
property_value: exactMatch http://identifiers.org/snomedct/126963001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263892
property_value: exactMatch NCIT:C5479

[Term]
id: MONDO:0003165
name: cerebellar astrocytoma
def: "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." [NCIT:C9475]
synonym: "astrocytoma (excluding glioblastoma) of cerebellum" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of cerebellum" EXACT [DOID:4848, NCIT:C9475]
synonym: "astrocytoma of the cerebellum" EXACT [NCIT:C9475]
synonym: "astrocytoma, cerebellar" EXACT [NCIT:C9475]
synonym: "cerebellar astrocytoma" EXACT [NCIT:C9475]
synonym: "cerebellum astrocytoma" EXACT [MONDO:patterns/location]
synonym: "cerebellum astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4848 {source="MONDO:equivalentTo"}
xref: NCIT:C9475 {source="MONDO:equivalentTo", source="DOID:4848"}
xref: UMLS:C0740480 {source="NCIT:C9475", source="MONDO:equivalentTo", source="DOID:4848"}
is_a: MONDO:0002913 {source="DOID:4848", source="MONDO:Redundant"} ! cerebellar neoplasm
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C9475"} ! brain astrocytoma
relationship: excluded_subClassOf MONDO:0005499 {source="DOID:4848"} ! brain glioma
property_value: exactMatch DOID:4848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740480
property_value: exactMatch NCIT:C9475

[Term]
id: MONDO:0003166
name: obsolete pilocytic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016691

[Term]
id: MONDO:0003167
name: obsolete pleomorphic xanthoastrocytoma
is_obsolete: true
replaced_by: MONDO:0016690

[Term]
id: MONDO:0003168
name: cerebellar pilocytic astrocytoma
def: "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." [NCIT:C6809]
synonym: "cerebellar pilocytic astrocytoma" EXACT [DOID:4853, NCIT:C6809]
synonym: "cerebellum pilocytic astrocytoma" EXACT [MONDO:patterns/location]
synonym: "pilocytic astrocytoma of cerebellum" EXACT [NCIT:C6809]
synonym: "pilocytic astrocytoma of the cerebellum" EXACT [NCIT:C6809]
xref: DOID:4853 {source="MONDO:equivalentTo"}
xref: NCIT:C6809 {source="DOID:4853", source="MONDO:equivalentTo"}
xref: SCTID:277507004 {source="DOID:4853", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349620 {source="NCIT:C6809", source="DOID:4853", source="MONDO:equivalentTo"}
is_a: MONDO:0000638 ! benign glioma
is_a: MONDO:0003165 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! cerebellar astrocytoma
is_a: MONDO:0016691 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! pilocytic astrocytoma
is_a: MONDO:0021499 {source="NCIT:C6809"} ! benign neoplasm of cerebellum
property_value: exactMatch DOID:4853
property_value: exactMatch http://identifiers.org/snomedct/277507004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349620
property_value: exactMatch NCIT:C6809

[Term]
id: MONDO:0003169
name: diencephalic astrocytomas
def: "A astrocytoma that involves the diencephalon." [MONDO:patterns/location]
synonym: "astrocytoma (excluding glioblastoma) of diencephalon" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of diencephalon" EXACT [DOID:4855, NCIT:C5128]
synonym: "astrocytoma of the diencephalon" EXACT [NCIT:C5128]
synonym: "diencephalic astrocytoma" EXACT [NCIT:C5128]
synonym: "diencephalon astrocytoma" EXACT [MONDO:patterns/location]
synonym: "diencephalon astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4855 {source="MONDO:equivalentTo"}
xref: NCIT:C5128 {source="DOID:4855", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333284 {source="DOID:4855", source="MONDO:equivalentTo", source="NCIT:C5128"}
is_a: MONDO:0002786 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! diencephalic cancer
is_a: MONDO:0005499 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C5128"} ! brain astrocytoma
property_value: exactMatch DOID:4855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333284
property_value: exactMatch NCIT:C5128

[Term]
id: MONDO:0003170
name: gliofibroma
def: "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." [NCIT:C5419]
synonym: "gliofibroma (morphologic abnormality)" EXACT [DOID:4856]
xref: DOID:4856 {source="MONDO:equivalentTo"}
xref: ICDO:9442/1 {source="NCIT:C5419"}
xref: NCIT:C5419 {source="MONDO:equivalentTo", source="DOID:4856", source="exact-label-match"}
xref: UMLS:C1266178 {source="MONDO:equivalentTo", source="DOID:4856", source="NCIT:C5419"}
is_a: MONDO:0021636 {source="DOID:4856", source="NCIT:C5419"} ! astrocytic tumor
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:4856"} ! astrocytoma (excluding glioblastoma)
property_value: closeMatch http://identifiers.org/snomedct/128909006
property_value: exactMatch DOID:4856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266178
property_value: exactMatch NCIT:C5419

[Term]
id: MONDO:0003171
name: pineal gland astrocytoma
def: "A astrocytoma that involves the pineal body." [MONDO:patterns/location]
synonym: "astrocytoma (excluding glioblastoma) of pineal body" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of pineal gland" EXACT [NCIT:C8274]
synonym: "astrocytoma of the pineal gland" EXACT [NCIT:C8274]
synonym: "pineal astrocytic tumor" EXACT [DOID:4858, NCIT:C8274]
synonym: "pineal astrocytoma" EXACT [NCIT:C8274]
synonym: "pineal body astrocytoma" EXACT [MONDO:patterns/location]
synonym: "pineal body astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4858 {source="MONDO:equivalentTo"}
xref: NCIT:C8274 {source="MONDO:equivalentTo", source="DOID:4858"}
xref: UMLS:C0280795 {source="MONDO:equivalentTo", source="DOID:4858", source="NCIT:C8274"}
is_a: MONDO:0003169 ! diencephalic astrocytomas
is_a: MONDO:0003249 {source="DOID:4858", source="MONDO:Entailed", source="MONDO:Redundant"} ! pineal gland cancer
property_value: exactMatch DOID:4858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280795
property_value: exactMatch NCIT:C8274

[Term]
id: MONDO:0003172
name: glomeruloid hemangioma
xref: DOID:486 {source="MONDO:equivalentTo"}
xref: NCIT:C27505 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:486"}
xref: SCTID:403976007 {source="MONDO:equivalentTo", source="DOID:486", source="MONDO:kboom-pr-1.00/0.91/28.20"}
xref: UMLS:C1304511 {source="MONDO:equivalentTo", source="NCIT:C27505", source="DOID:486"}
is_a: MONDO:0006500 {source="DOID:486"} ! hemangioma
property_value: exactMatch DOID:486
property_value: exactMatch http://identifiers.org/snomedct/403976007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304511
property_value: exactMatch NCIT:C27505

[Term]
id: MONDO:0003173
name: brain stem astrocytic neoplasm
def: "An astrocytoma that arises from the brain stem." [NCIT:P378]
synonym: "astrocytoma (excluding glioblastoma) of brainstem" EXACT [MONDO:design_pattern]
synonym: "brain stem astrocytoma" EXACT [NCIT:C7445]
synonym: "brainstem astrocytoma" EXACT [DOID:4860, MONDO:patterns/location, NCIT:C7445]
synonym: "brainstem astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4860 {source="MONDO:equivalentTo"}
xref: NCIT:C7445 {source="DOID:4860", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/19.11"}
xref: SCTID:107581000119103 {source="DOID:4860", source="MONDO:equivalentTo"}
xref: UMLS:C1332608 {source="DOID:4860", source="MONDO:equivalentTo", source="NCIT:C7445"}
is_a: MONDO:0002911 {source="DOID:4860", source="NCIT:C7445", source="linkedlifedata/inferred"} ! brain stem glioma
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C7445", source="linkedlifedata"} ! brain astrocytoma
property_value: exactMatch DOID:4860
property_value: exactMatch http://identifiers.org/snomedct/107581000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332608
property_value: exactMatch NCIT:C7445

[Term]
id: MONDO:0003174
name: spinal cord astrocytoma
def: "A low or high grade astrocytoma that arises in the spinal cord." [NCIT:C4641]
synonym: "astrocytoma (excluding glioblastoma) of spinal cord" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of spinal cord" EXACT [NCIT:C4641]
synonym: "astrocytoma of the spinal cord" EXACT [NCIT:C4641]
synonym: "spinal astrocytoma" EXACT [DOID:4863, NCIT:C4641]
synonym: "spinal cord astrocytoma" EXACT [MONDO:patterns/location, NCIT:C4641]
synonym: "spinal cord astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4863 {source="MONDO:equivalentTo"}
xref: EFO:1000544 {source="MONDO:equivalentTo"}
xref: NCIT:C4641 {source="DOID:4863", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:254948003 {source="DOID:4863", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349540 {source="DOID:4863", source="MONDO:equivalentTo", source="NCIT:C4641"}
is_a: MONDO:0002542 {source="DOID:4863", source="NCIT:C4641"} ! spinal cord glioma
is_a: MONDO:0019781 {source="DOID:4863", source="MONDO:Redundant", source="MONDOLEX:0003174", source="NCIT:C4641", source="linkedlifedata"} ! astrocytoma (excluding glioblastoma)
property_value: exactMatch DOID:4863
property_value: exactMatch http://identifiers.org/snomedct/254948003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349540
property_value: exactMatch NCIT:C4641

[Term]
id: MONDO:0003175
name: salivary gland adenoid cystic carcinoma
def: "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." [NCIT:C8026]
synonym: "adenoid cystic cancer" EXACT [DOID:4866, NCIT:C2970]
synonym: "adenoid cystic carcinoma" EXACT EXCLUDE [DOID:4866]
synonym: "adenoid cystic carcinoma (morphologic abnormality)" EXACT [DOID:4866]
synonym: "adenoid cystic carcinoma of salivary gland" EXACT [NCIT:C8026]
synonym: "adenoid cystic carcinoma of the salivary gland" EXACT [NCIT:C8026]
synonym: "cylindroma" EXACT EXCLUDE [DOID:4866]
synonym: "cylindroma (morphologic abnormality)" EXACT [DOID:4866]
synonym: "cylindroma NOS" RELATED EXCLUDE [DOID:4866]
synonym: "saliva-secreting gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland adenoid cystic cancer" EXACT [NCIT:C8026]
synonym: "salivary gland adenoid cystic carcinoma" EXACT [NCIT:C8026]
xref: DOID:4866 {source="MONDO:equivalentTo"}
xref: GARD:0012346 {source="MONDO:equivalentTo"}
xref: NCIT:C8026 {source="MONDO:equivalentTo"}
xref: SCTID:422833009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279751 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8026", source="MONDO:equivalentTo"}
is_a: MONDO:0000521 {source="DOID:4866", source="MONDO:Redundant", source="MONDOLEX:0003175", source="NCIT:C8026"} ! salivary gland carcinoma
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003175", source="NCIT:C8026"} ! adenoid cystic carcinoma
property_value: closeMatch http://identifiers.org/snomedct/11671000
property_value: closeMatch http://identifiers.org/snomedct/189594000
property_value: closeMatch http://identifiers.org/snomedct/302827006
property_value: exactMatch DOID:4866
property_value: exactMatch http://identifiers.org/snomedct/422833009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279751
property_value: exactMatch NCIT:C8026

[Term]
id: MONDO:0003176
name: obsolete cervical adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006133

[Term]
id: MONDO:0003177
name: prostate adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the prostate gland." [NCIT:C5539]
synonym: "adenoid cystic carcinoma of prostate" EXACT [DOID:4868, NCIT:C5539]
synonym: "adenoid cystic carcinoma of the prostate" EXACT [DOID:4868, NCIT:C5539]
synonym: "prostate adenoid cystic carcinoma" EXACT [NCIT:C5539]
synonym: "prostate gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4868 {source="MONDO:equivalentTo"}
xref: NCIT:C5539 {source="MONDO:equivalentTo", source="DOID:4868", source="exact-label-match"}
xref: UMLS:C1335502 {source="MONDO:equivalentTo", source="DOID:4868", source="NCIT:C5539"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003177", source="NCIT:C5539", source="OWLReasoner:2017"} ! adenoid cystic carcinoma
is_a: MONDO:0005082 ! prostate adenocarcinoma
property_value: exactMatch DOID:4868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335502
property_value: exactMatch NCIT:C5539

[Term]
id: MONDO:0003178
name: obsolete laryngeal adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006264

[Term]
id: MONDO:0003179
name: obsolete lacrimal gland adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006262

[Term]
id: MONDO:0003180
name: cutaneous adenocystic carcinoma
def: "A adenoid cystic carcinoma that involves the skin of body." [MONDO:patterns/location]
synonym: "adenoid cystic carcinoma of skin" EXACT [NCIT:C4471]
synonym: "adenoid cystic carcinoma of the skin" EXACT [DOID:4871, NCIT:C4471]
synonym: "adenoid cystic cutaneous carcinoma" EXACT [NCIT:C4471]
synonym: "adenoid cystic eccrine carcinoma" EXACT [DOID:4871]
synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [DOID:4871]
synonym: "adenoid cystic eccrine carcinoma of skin" EXACT [DOID:4871]
synonym: "adenoid cystic skin carcinoma" EXACT [NCIT:C4471]
synonym: "primary cutaneous adenocystic carcinoma" EXACT [NCIT:C4471]
synonym: "skin of body adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4871 {source="MONDO:equivalentTo"}
xref: NCIT:C4471 {source="DOID:4871", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254711000 {source="DOID:4871", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346017 {source="DOID:4871", source="NCIT:C4471", source="MONDO:equivalentTo"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003180", source="NCIT:C4471", source="OWLReasoner:2017"} ! adenoid cystic carcinoma
is_a: MONDO:0005524 {source="NCIT:C4471"} ! sweat gland carcinoma
property_value: closeMatch http://identifiers.org/snomedct/399968001
property_value: exactMatch DOID:4871
property_value: exactMatch http://identifiers.org/snomedct/254711000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346017
property_value: exactMatch NCIT:C4471

[Term]
id: MONDO:0003181
name: lung adenoid cystic carcinoma
def: "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." [NCIT:C5666]
synonym: "adenocystic carcinoma of lung" EXACT [NCIT:C5666]
synonym: "adenocystic carcinoma of the lung" EXACT [NCIT:C5666]
synonym: "adenoid cystic carcinoma of lung" EXACT [DOID:4872, NCIT:C5666]
synonym: "adenoid cystic carcinoma of the lung" EXACT [NCIT:C5666]
synonym: "LUACC" RELATED [ONCOTREE:LUACC]
synonym: "lung adenocystic carcinoma" EXACT [NCIT:C5666]
synonym: "lung adenoid cystic cancer" EXACT [NCIT:C5666]
synonym: "lung adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5666]
synonym: "pulmonary adenocystic carcinoma" EXACT [NCIT:C5666]
synonym: "pulmonary adenoid cystic carcinoma" EXACT [DOID:4872, NCIT:C5666]
xref: DOID:4872 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5666 {source="DOID:4872", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LUACC {source="MONDO:equivalentTo"}
xref: SCTID:707466008 {source="MONDO:kboom-pr-1.00/0.80/9.48", source="MONDO:equivalentTo"}
xref: UMLS:C1334439 {source="DOID:4872", source="MONDO:equivalentTo", source="NCIT:C5666"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003181", source="NCIT:C5666", source="OWLReasoner:2017"} ! adenoid cystic carcinoma
is_a: MONDO:0005061 ! lung adenocarcinoma
property_value: exactMatch DOID:4872
property_value: exactMatch http://identifiers.org/snomedct/707466008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334439
property_value: exactMatch NCIT:C5666

[Term]
id: MONDO:0003182
name: anterior horn disease
def: "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." [https://en.wikipedia.org/wiki/Anterior_horn_disease]
comment: TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND
synonym: "disease of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ventral horn of spinal cord" EXACT []
synonym: "disorder of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ventral horn of spinal cord" RELATED [MONDO:patterns/location_top]
synonym: "ventral horn of spinal cord disease" EXACT [MONDO:patterns/location]
synonym: "ventral horn of spinal cord disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:4873 {source="MONDO:equivalentTo"}
xref: ICD9:335 {source="DOID:4873"}
xref: ICD9:335.9 {source="DOID:4873", source="MONDO:relatedTo"}
is_a: MONDO:0002545 ! spinal cord disease
property_value: closeMatch http://identifiers.org/snomedct/155014006
property_value: closeMatch http://identifiers.org/snomedct/192884004
property_value: closeMatch http://identifiers.org/snomedct/192892008
property_value: closeMatch http://identifiers.org/snomedct/267693003
property_value: closeMatch http://identifiers.org/snomedct/85672005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154681
property_value: exactMatch DOID:4873

[Term]
id: MONDO:0003183
name: obsolete trachea adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006471

[Term]
id: MONDO:0003184
name: trachea carcinoma
def: "A carcinoma that arises from epithelial cells of the trachea." [MONDO:DesignPattern]
synonym: "Ca trachea" EXACT [DOID:4876]
synonym: "cancer of the trachea" EXACT [NCIT:C9347]
synonym: "cancer of trachea" BROAD [NCIT:C9347]
synonym: "carcinoma of the trachea" EXACT [DOID:4876, NCIT:C9347]
synonym: "carcinoma of trachea" EXACT [MONDO:patterns/carcinoma, NCIT:C9347]
synonym: "Pancoast's tumor" EXACT EXCLUDE [DOID:4876]
synonym: "trachea cancer" BROAD [NCIT:C9347]
synonym: "trachea carcinoma" EXACT [MONDO:patterns/location, NCIT:C9347]
synonym: "tracheal carcinoma" EXACT [NCIT:C9347]
xref: DOID:4876 {source="MONDO:equivalentTo"}
xref: EFO:1000599 {source="MONDO:equivalentTo"}
xref: NCIT:C9347 {source="MONDO:equivalentTo", source="EFO:1000599", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1744708 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9347", source="MONDO:equivalentTo"}
is_a: MONDO:0001407 {source="DOID:4876", source="MONDO:Redundant", source="MONDOLEX:0003184", source="NCIT:C9347"} ! tracheal cancer
is_a: MONDO:0004993 {source="DOID:4876", source="EFO:1000599", source="MONDO:Redundant", source="MONDOLEX:0003184", source="NCIT:C9347"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154486000
property_value: closeMatch http://identifiers.org/snomedct/269562004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0848879
property_value: exactMatch DOID:4876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744708
property_value: exactMatch NCIT:C9347

[Term]
id: MONDO:0003185
name: adenoid cystic breast carcinoma
def: "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130]
synonym: "adenocystic breast carcinoma" EXACT [NCIT:C5130]
synonym: "adenocystic carcinoma of breast" EXACT [NCIT:C5130]
synonym: "adenocystic carcinoma of the breast" EXACT [NCIT:C5130]
synonym: "adenoid cystic breast cancer" RELATED [ONCOTREE:ACBC]
synonym: "adenoid cystic breast carcinoma" EXACT [MONDO:0006072, NCIT:C5130]
synonym: "adenoid cystic carcinoma of breast" EXACT [DOID:4877, NCIT:C5130]
synonym: "adenoid cystic carcinoma of the breast" EXACT [NCIT:C5130]
synonym: "breast adenoid cystic carcinoma" EXACT [DOID:4877, MONDO:patterns/location]
synonym: "mammary adenocystic carcinoma" EXACT [DOID:4877, NCIT:C5130]
synonym: "mammary adenoid cystic carcinoma" EXACT [MONDO:DesignPattern]
xref: DOID:4877 {source="MONDO:equivalentTo"}
xref: EFO:1000071 {source="MONDO:equivalentTo"}
xref: NCIT:C5130 {source="DOID:4877", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11", source="EFO:1000071"}
xref: ONCOTREE:ACBC {source="MONDO:equivalentTo"}
xref: UMLS:C1332167 {source="NCIT:C5130", source="DOID:4877", source="MONDO:equivalentTo"}
is_a: MONDO:0004971 {source="EFO:1000071", source="MONDO:Redundant", source="MONDOLEX:0003185", source="NCIT:C5130"} ! adenoid cystic carcinoma
is_a: MONDO:0004988 ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C5130", source="ONCOTREE:ACBC"} ! invasive breast carcinoma
property_value: exactMatch DOID:4877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332167
property_value: exactMatch NCIT:C5130

[Term]
id: MONDO:0003186
name: esophageal adenoid cystic carcinoma
def: "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" [NCIT:C5342]
synonym: "adenoid cystic carcinoma of esophagus" EXACT [NCIT:C5342]
synonym: "adenoid cystic carcinoma of the esophagus" EXACT [NCIT:C5342]
synonym: "adenoid cystic carcinoma, esophagus" EXACT [DOID:4878, NCIT:C5342]
synonym: "adenoid cystic esophagus carcinoma" EXACT [NCIT:C5342]
synonym: "esophageal adenoid cystic cancer" EXACT [NCIT:C5342]
synonym: "esophageal adenoid cystic carcinoma" EXACT [NCIT:C5342]
synonym: "esophagus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5342]
xref: DOID:4878 {source="MONDO:equivalentTo"}
xref: NCIT:C5342 {source="MONDO:equivalentTo", source="DOID:4878", source="exact-label-match"}
xref: UMLS:C1333441 {source="NCIT:C5342", source="MONDO:equivalentTo", source="DOID:4878"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003186", source="NCIT:C5342"} ! adenoid cystic carcinoma
is_a: MONDO:0005028 ! esophageal adenocarcinoma
property_value: exactMatch DOID:4878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333441
property_value: exactMatch NCIT:C5342

[Term]
id: MONDO:0003187
name: Bartholin gland adenoid cystic carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns." [NCIT:P378]
synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [DOID:4879, NCIT:C40295]
synonym: "Bartholin's gland adenoid cystic carcinoma" EXACT [NCIT:C40295]
synonym: "major vestibular gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4879 {source="MONDO:equivalentTo"}
xref: NCIT:C40295 {source="MONDO:equivalentTo", source="DOID:4879", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1511047 {source="MONDO:equivalentTo", source="DOID:4879", source="NCIT:C40295"}
is_a: MONDO:0003853 ! Bartholin gland adenocarcinoma
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0003187", source="NCIT:C40295", source="OWLReasoner:2017"} ! adenoid cystic carcinoma
property_value: exactMatch DOID:4879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511047
property_value: exactMatch NCIT:C40295

[Term]
id: MONDO:0003188
name: obsolete juvenile myoclonic epilepsy
is_obsolete: true
replaced_by: MONDO:0009696

[Term]
id: MONDO:0003189
name: middle ear adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the middle ear" [MONDO:DesignPattern]
synonym: "adenocarcinoma of middle Ear" EXACT [NCIT:C6848]
synonym: "adenocarcinoma of middle ear" RELATED [DOID:4892]
synonym: "adenocarcinoma of the middle Ear" EXACT [NCIT:C6848]
synonym: "adenocarcinoma of the middle ear" EXACT [DOID:4892, NCIT:C6848]
synonym: "middle Ear adenocarcinoma" EXACT [NCIT:C6848]
synonym: "middle ear adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4892 {source="MONDO:equivalentTo"}
xref: NCIT:C6848 {source="DOID:4892", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334758 {source="DOID:4892", source="MONDO:equivalentTo", source="NCIT:C6848"}
is_a: MONDO:0003190 {source="DOID:4892", source="MONDO:Redundant", source="NCIT:C6848"} ! middle ear carcinoma
is_a: MONDO:0004970 {source="DOID:4892", source="MONDO:Redundant", source="MONDOLEX:0003189", source="NCIT:C6848"} ! adenocarcinoma
property_value: exactMatch DOID:4892
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334758
property_value: exactMatch NCIT:C6848

[Term]
id: MONDO:0003190
name: middle ear carcinoma
def: "A carcinoma that arises from epithelial cells of the middle ear" [MONDO:DesignPattern]
synonym: "carcinoma of middle Ear" EXACT [NCIT:C6089]
synonym: "carcinoma of middle ear" EXACT [DOID:4893, MONDO:patterns/carcinoma]
synonym: "carcinoma of the middle Ear" EXACT [NCIT:C6089]
synonym: "carcinoma of the middle ear" EXACT [DOID:4893, NCIT:C6089]
synonym: "middle Ear carcinoma" EXACT [NCIT:C6089]
synonym: "middle ear carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4893 {source="MONDO:equivalentTo"}
xref: NCIT:C6089 {source="DOID:4893", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334760 {source="DOID:4893", source="NCIT:C6089", source="MONDO:equivalentTo"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6089/inferred"} ! head and neck carcinoma
is_a: MONDO:0003275 {source="DOID:4893", source="MONDO:Redundant", source="NCIT:C6089"} ! middle ear cancer
property_value: exactMatch DOID:4893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334760
property_value: exactMatch NCIT:C6089

[Term]
id: MONDO:0003191
name: rete ovarii adenocarcinoma
def: "An exceptionally rare adenocarcinoma that arises from the rete ovarii." [NCIT:C40017]
synonym: "rete ovarii adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40017]
xref: DOID:4894 {source="MONDO:equivalentTo"}
xref: NCIT:C40017 {source="DOID:4894", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C3840223 {source="NCIT:C40017", source="DOID:4894", source="MONDO:equivalentTo"}
is_a: MONDO:0002752 {source="DOID:4894", source="MONDO:Entailed", source="MONDO:Redundant"} ! ovarian adenocarcinoma
is_a: MONDO:0003192 {source="MONDO:Redundant", source="NCIT:C40017"} ! rete ovarii neoplasm
property_value: closeMatch http://identifiers.org/snomedct/703655009
property_value: exactMatch DOID:4894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3840223
property_value: exactMatch NCIT:C40017

[Term]
id: MONDO:0003192
name: rete ovarii neoplasm
def: "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma." [NCIT:C40016]
synonym: "neoplasm of rete ovarii" EXACT [MONDO:patterns/neoplasm]
synonym: "rete ovarii neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rete ovarii tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of rete ovarii" EXACT [MONDO:patterns/neoplasm]
xref: DOID:4895 {source="MONDO:equivalentTo"}
xref: NCIT:C40016 {source="DOID:4895", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1514909 {source="DOID:4895", source="MONDO:equivalentTo", source="NCIT:C40016"}
is_a: MONDO:0021068 ! ovarian neoplasm
property_value: exactMatch DOID:4895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514909
property_value: exactMatch NCIT:C40016

[Term]
id: MONDO:0003193
name: bile duct adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the bile duct" [MONDO:DesignPattern]
synonym: "bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C27813]
xref: DOID:4896 {source="MONDO:equivalentTo"}
xref: NCIT:C27813 {source="DOID:4896", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370800 {source="DOID:4896", source="MONDO:equivalentTo", source="NCIT:C27813"}
is_a: MONDO:0005496 {source="DOID:4896", source="MONDO:Redundant", source="NCIT:C27813"} ! bile duct carcinoma
is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract
property_value: closeMatch http://identifiers.org/snomedct/70179006
property_value: exactMatch DOID:4896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370800
property_value: exactMatch NCIT:C27813

[Term]
id: MONDO:0003194
name: hemangioma of lung
def: "A hemangioma that involves the lung." [MONDO:patterns/location]
synonym: "lung hemangioma" EXACT [MONDO:patterns/location]
synonym: "pulmonary hemangioma" EXACT [DOID:490, NCIT:C7747]
xref: DOID:490 {source="MONDO:equivalentTo"}
is_a: MONDO:0002732 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! lung benign neoplasm
is_a: MONDO:0006500 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangioma
property_value: exactMatch DOID:490

[Term]
id: MONDO:0003195
name: peritoneal serous adenocarcinoma
def: "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." [NCIT:P378]
synonym: "peritoneum serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "primary peritoneal serous adenocarcinoma" NARROW [DOID:4901]
xref: DOID:4901 {source="MONDO:equivalentTo"}
is_a: MONDO:0002113 {source="DOID:4901", source="MONDO:Entailed", source="MONDO:Redundant"} ! peritoneal carcinoma
is_a: MONDO:0005278 ! serous adenocarcinoma
property_value: exactMatch DOID:4901

[Term]
id: MONDO:0003196
name: appendix carcinoma
def: "A carcinoma that arises from epithelial cells of the vermiform appendix" [MONDO:DesignPattern]
synonym: "appendix cancer" EXACT [NCIT:C9330]
synonym: "appendix carcinoma" EXACT [NCIT:C9330]
synonym: "Ca appendix" EXACT [DOID:4902]
synonym: "carcinoma of appendix" EXACT [DOID:4902, NCIT:C9330]
synonym: "carcinoma of the appendix" EXACT [NCIT:C9330]
synonym: "carcinoma of vermiform appendix" EXACT [MONDO:patterns/carcinoma]
synonym: "vermiform appendix carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4902 {source="MONDO:equivalentTo"}
xref: NCIT:C9330 {source="MONDO:equivalentTo", source="DOID:4902"}
xref: SCTID:448992002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0728951 {source="MONDO:equivalentTo", source="DOID:4902"}
is_a: MONDO:0001235 {source="DOID:4902", source="MONDO:Redundant", source="MONDOLEX:0003196", source="NCIT:C9330", source="linkedlifedata"} ! appendix cancer
is_a: MONDO:0006029 ! cecum carcinoma
is_a: MONDO:0018511 ! epithelial tumor of the appendix
property_value: closeMatch http://identifiers.org/snomedct/154462002
property_value: closeMatch http://identifiers.org/snomedct/269541000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3163821
property_value: exactMatch DOID:4902
property_value: exactMatch http://identifiers.org/snomedct/448992002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0728951
property_value: exactMatch NCIT:C9330

[Term]
id: MONDO:0003197
name: granular cell carcinoma
def: "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." [NCIT:C3681]
synonym: "granular cell adenocarcinoma" EXACT [DOID:4903, NCIT:C3681]
synonym: "granular cell carcinoma" EXACT [NCIT:C3681]
synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [DOID:4903]
xref: DOID:4903 {source="MONDO:equivalentTo"}
xref: ICDO:8320/3 {source="NCIT:C3681"}
xref: NCIT:C3681 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"}
xref: UMLS:C0205644 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"}
is_a: MONDO:0003252 ! granular cell cancer
is_a: MONDO:0004970 {source="MONDOLEX:0003197", source="NCIT:C3681"} ! adenocarcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: MONDO:0006235 ! granular cell tumor
property_value: closeMatch http://identifiers.org/snomedct/69028005
property_value: exactMatch DOID:4903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205644
property_value: exactMatch NCIT:C3681

[Term]
id: MONDO:0003198
name: small intestine adenocarcinoma
def: "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888]
subset: ordo_disease {source="Orphanet:104075"}
synonym: "adenocarcinoma - small intest." EXACT [NCIT:C7888]
synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888, Orphanet:104075]
synonym: "adenocarcinoma of small instestine" EXACT [MONDO:0015189]
synonym: "adenocarcinoma of small intestine" EXACT [DOID:4906, NCIT:C7888]
synonym: "adenocarcinoma of the small bowel" EXACT [NCIT:C7888]
synonym: "adenocarcinoma of the small instestine" RELATED [Orphanet:104075]
synonym: "adenocarcinoma of the small intestine" EXACT [NCIT:C7888]
synonym: "small bowel adenocarcinoma" EXACT [NCIT:C7888]
synonym: "small intestinal adenocarcinoma" EXACT [DOID:4906, MONDO:0006415, NCIT:C7888]
synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4906 {source="MONDO:equivalentTo"}
xref: EFO:1000532 {source="MONDO:equivalentTo"}
xref: GARD:0013090 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D01.4 {source="ORDO:104075/ntbt", source="Orphanet:104075"}
xref: NCIT:C7888 {source="kboom:pr0.83-conf10.15", source="MONDO:equivalentTo", source="DOID:4906"}
xref: Orphanet:104075 {source="MONDO:equivalentTo"}
xref: SCTID:424440001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.80", source="DOID:4906"}
xref: UMLS:C0278803 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7888", source="Orphanet:104075", source="DOID:4906"}
is_a: MONDO:0004970 {source="DOID:4906", source="EFO:1000532", source="MONDO:Redundant", source="MONDOLEX:0003198", source="NCIT:C7888", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0005522 {source="DOID:4906", source="MONDO:Redundant", source="NCIT:C7888", source="Orphanet:104075", source="indirect", source="linkedlifedata"} ! small intestine carcinoma
property_value: exactMatch DOID:4906
property_value: exactMatch http://identifiers.org/snomedct/424440001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278803
property_value: exactMatch NCIT:C7888
property_value: exactMatch Orphanet:104075

[Term]
id: MONDO:0003199
name: anal carcinoma
def: "A carcinoma that arises from epithelial cells of the anus" [MONDO:DesignPattern]
synonym: "anal cancer" EXACT [NCIT:C9291]
synonym: "anal cancer, NOS" RELATED EXCLUDE [NCIT:C9291]
synonym: "anal carcinoma" EXACT [NCIT:C9291]
synonym: "anus carcinoma" EXACT [MONDO:patterns/location]
synonym: "Ca anus" EXACT [DOID:4908]
synonym: "cancer of anus" EXACT [NCIT:C9291]
synonym: "cancer of the anus" EXACT [NCIT:C9291]
synonym: "carcinoma of anus" EXACT [DOID:4908, MONDO:patterns/carcinoma, NCIT:C9291]
synonym: "carcinoma of the anus" EXACT [NCIT:C9291]
xref: DOID:4908 {source="MONDO:equivalentTo"}
xref: NCIT:C9291 {source="DOID:4908", source="MONDO:equivalentTo"}
xref: SCTID:448315008 {source="MONDO:kboom-pr-0.93/0.82/0.49", source="MONDO:equivalentTo"}
xref: UMLS:C0279637 {source="DOID:4908", source="MONDO:equivalentTo", source="NCIT:C9291"}
is_a: MONDO:0001879 {source="DOID:4908", source="MONDO:Redundant", source="MONDOLEX:0003199", source="NCIT:C9291"} ! anus cancer
is_a: MONDO:0044937 ! rectal carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154467008
property_value: closeMatch http://identifiers.org/snomedct/187762000
property_value: closeMatch http://identifiers.org/snomedct/269546005
property_value: exactMatch DOID:4908
property_value: exactMatch http://identifiers.org/snomedct/448315008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279637
property_value: exactMatch NCIT:C9291

[Term]
id: MONDO:0003200
name: urethra adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the urethra" [MONDO:DesignPattern]
synonym: "adenocarcinoma of the urethra" EXACT [DOID:4910, NCIT:C6167]
synonym: "adenocarcinoma of urethra" EXACT [NCIT:C6167]
synonym: "UAD" RELATED [ONCOTREE:UAD]
synonym: "urethra adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6167]
synonym: "urethral adenocarcinoma" EXACT [NCIT:C6167]
xref: DOID:4910 {source="MONDO:equivalentTo"}
xref: NCIT:C6167 {source="DOID:4910", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:UAD {source="MONDO:equivalentTo"}
xref: UMLS:C1336885 {source="NCIT:C6167", source="DOID:4910", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="DOID:4910", source="MONDO:Redundant", source="MONDOLEX:0003200", source="NCIT:C6167"} ! adenocarcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="MONDOLEX:0003200", source="NCIT:C6167"} ! carcinoma of urethra
property_value: exactMatch DOID:4910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336885
property_value: exactMatch NCIT:C6167

[Term]
id: MONDO:0003201
name: obsolete esophagus adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005028

[Term]
id: MONDO:0003202
name: pituitary gland basophilic carcinoma
synonym: "basophil adenocarcinoma" EXACT [DOID:4915, NCIT:C27392]
synonym: "basophil carcinoma" EXACT [NCIT:C27392]
synonym: "basophil carcinoma (morphologic abnormality)" EXACT [DOID:4915]
synonym: "basophilic carcinoma" RELATED [DOID:4915]
synonym: "pituitary gland basophil carcinoma" EXACT [NCIT:C27392]
xref: DOID:4915 {source="MONDO:equivalentTo"}
xref: NCIT:C27392 {source="MONDO:equivalentTo"}
xref: UMLS:C1704778 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27392"}
is_a: MONDO:0017582 {source="DOID:4915"} ! pituitary adenocarcinoma (disease)
relationship: excluded_subClassOf MONDO:0004805 {source="DOID:4915"} ! leukocyte disease
property_value: closeMatch http://identifiers.org/snomedct/47107000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334314
property_value: closeMatch NCIT:C4150
property_value: exactMatch DOID:4915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704778
property_value: exactMatch NCIT:C27392

[Term]
id: MONDO:0003203
name: obsolete pituitary carcinoma
is_obsolete: true
replaced_by: MONDO:0017582

[Term]
id: MONDO:0003204
name: villous adenocarcinoma
def: "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." [NCIT:C4142]
synonym: "villous adenocarcinoma" EXACT [NCIT:C4142]
synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4917]
xref: DOID:4917 {source="MONDO:equivalentTo"}
xref: ICDO:8262/3 {source="NCIT:C4142"}
xref: NCIT:C4142 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4917"}
xref: UMLS:C0334306 {source="NCIT:C4142", source="MONDO:equivalentTo", source="DOID:4917"}
is_a: MONDO:0004970 {source="DOID:4917", source="MONDOLEX:0003204", source="NCIT:C4142"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/28558000
property_value: exactMatch DOID:4917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334306
property_value: exactMatch NCIT:C4142

[Term]
id: MONDO:0003205
name: renal pelvis adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the renal pelvis" [MONDO:DesignPattern]
synonym: "adenocarcinoma of kidney pelvis" EXACT [NCIT:C6143]
synonym: "adenocarcinoma of renal pelvis" EXACT [DOID:4918, NCIT:C6143]
synonym: "adenocarcinoma of the kidney pelvis" EXACT [DOID:4918, NCIT:C6143]
synonym: "adenocarcinoma of the renal pelvis" EXACT [NCIT:C6143]
synonym: "kidney pelvis adenocarcinoma" EXACT [NCIT:C6143]
synonym: "kidney renal pelvis adenocarcinoma" EXACT [NCIT:C6143]
synonym: "renal pelvis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6143]
xref: DOID:4918 {source="MONDO:equivalentTo"}
xref: NCIT:C6143 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4918"}
xref: UMLS:C1335748 {source="NCIT:C6143", source="MONDO:equivalentTo", source="DOID:4918"}
is_a: MONDO:0005086 {source="DOID:4918", source="MONDO:Redundant", source="MONDOLEX:0003205"} ! renal cell carcinoma (disease)
is_a: MONDO:0005519 {source="DOID:4918", source="MONDO:Redundant", source="MONDOLEX:0003205", source="NCIT:C6143"} ! renal pelvis carcinoma
property_value: exactMatch DOID:4918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335748
property_value: exactMatch NCIT:C6143

[Term]
id: MONDO:0003206
name: acquired hemangioma
def: "A hemangioma that is not present at birth but develops later in life." [NCIT:C27018]
synonym: "acquired hemangioma" EXACT [MONDO:patterns/acquired, NCIT:C27018]
xref: DOID:492 {source="MONDO:equivalentTo"}
xref: NCIT:C27018 {source="MONDO:equivalentTo", source="DOID:492", source="exact-label-match"}
xref: UMLS:C0856897 {source="MONDO:equivalentTo", source="DOID:492", source="NCIT:C27018"}
is_a: MONDO:0006500 {source="DOID:492", source="MONDO:Redundant", source="NCIT:C27018"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch DOID:492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856897
property_value: exactMatch NCIT:C27018

[Term]
id: MONDO:0003207
name: obsolete eccrine adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0024240

[Term]
id: MONDO:0003208
name: breast secretory carcinoma
def: "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." [NCIT:C4189]
subset: gard_rare {source="GARD:0009408"}
synonym: "cystic hypersecretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "cystic hypersecretory carcinoma of breast" EXACT [NCIT:C4189]
synonym: "cystic hypersecretory carcinoma of the breast" EXACT [NCIT:C4189]
synonym: "infiltrating cystic hypersecretory duct breast carcinoma" EXACT [NCIT:C4189]
synonym: "invasive cystic hypersecretory duct breast carcinoma" EXACT [NCIT:C4189]
synonym: "JSCB" RELATED [ONCOTREE:JSCB]
synonym: "juvenile breast carcinoma" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile carcinoma (formerly)" RELATED DEPRECATED [GARD:0009408]
synonym: "juvenile carcinoma of breast" EXACT [NCIT:C4189]
synonym: "juvenile carcinoma of the breast" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile carcinoma of the breast (morphologic abnormality)" EXACT [DOID:4922]
synonym: "juvenile secretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "juvenile secretory carcinoma of breast" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile secretory carcinoma of the breast" EXACT [NCIT:C4189]
synonym: "SBC" RELATED [GARD:0009408]
synonym: "secretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "secretory carcinoma" EXACT [NCIT:C4189]
synonym: "secretory carcinoma of breast" EXACT [NCIT:C4189]
synonym: "secretory carcinoma of the breast" EXACT [NCIT:C4189]
xref: DOID:4922 {source="MONDO:equivalentTo"}
xref: GARD:0009408 {source="MONDO:equivalentTo"}
xref: ICDO:8502/3 {source="NCIT:C4189"}
xref: ICDO:8508/3 {source="NCIT:C4189"}
xref: MESH:C537535 {source="MONDO:equivalentTo", source="DOID:4922", source="MONDO:ontobio"}
xref: NCIT:C4189 {source="MONDO:equivalentTo", source="DOID:4922", source="MONDO:kboom-pr-0.93/0.74/1.48"}
xref: ONCOTREE:JSCB {source="MONDO:equivalentTo"}
xref: UMLS:C0334371 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4189", source="DOID:4922"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/41919003
property_value: exactMatch DOID:4922
property_value: exactMatch http://identifiers.org/mesh/C537535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334371
property_value: exactMatch NCIT:C4189
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma xsd:anyURI {source="GARD:0009408"}

[Term]
id: MONDO:0003209
name: thymus gland adenocarcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation." [NCIT:C6459]
synonym: "adenocarcinoma of the Thymus" EXACT [DOID:4923, NCIT:C6459]
synonym: "adenocarcinoma of Thymus" EXACT [NCIT:C6459]
synonym: "thymic adenocarcinoma" EXACT [NCIT:C6459]
synonym: "Thymus adenocarcinoma" EXACT [NCIT:C6459]
synonym: "thymus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4923 {source="MONDO:equivalentTo"}
xref: NCIT:C6459 {source="MONDO:equivalentTo", source="DOID:4923"}
xref: UMLS:C1336743 {source="MONDO:equivalentTo", source="DOID:4923", source="NCIT:C6459"}
is_a: MONDO:0004970 {source="DOID:4923", source="MONDO:Redundant", source="MONDOLEX:0003209", source="NCIT:C6459"} ! adenocarcinoma
is_a: MONDO:0006451 {source="DOID:4923", source="MONDO:Redundant", source="MONDOLEX:0003209", source="NCIT:C6459"} ! thymic carcinoma
property_value: exactMatch DOID:4923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336743
property_value: exactMatch NCIT:C6459

[Term]
id: MONDO:0003210
name: intrahepatic cholangiocarcinoma
def: "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C35417]
subset: gard_rare {source="GARD:0006042"}
synonym: "cholangiocarcinoma, intrahepatic, malignant" EXACT [NCIT:C35417]
synonym: "ICC" EXACT [NCIT:C35417]
synonym: "IHCH" RELATED [ONCOTREE:IHCH]
synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C35417]
synonym: "intrahepatic bile duct carcinoma" EXACT [NCIT:C35417]
synonym: "intrahepatic carcinoma of bile duct" EXACT [NCIT:C35417]
synonym: "intrahepatic carcinoma of the bile duct" EXACT [NCIT:C35417]
synonym: "intrahepatic cholangiocarcinoma" EXACT [NCIT:C35417]
synonym: "intrahepatic cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C35417]
synonym: "intrahepatic Cholangiocellular carcinoma" EXACT [NCIT:C35417]
synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928, NCIT:C35417]
xref: COHD:4001664 {source="MONDO:equivalentTo"}
xref: DOID:4928 {source="MONDO:equivalentTo"}
xref: EFO:1001961 {source="MONDO:equivalentTo"}
xref: GARD:0006042 {source="MONDO:equivalentTo"}
xref: ICD10:C22.1 {source="DOID:4928"}
xref: NCIT:C35417 {source="MONDO:equivalentTo", source="DOID:4928"}
xref: ONCOTREE:IHCH {source="MONDO:equivalentTo"}
xref: SCTID:109842005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.12", source="DOID:4928"}
xref: UMLS:C0345905 {source="MONDO:equivalentTo", source="DOID:4928", source="NCIT:C35417"}
is_a: MONDO:0001487 ! intrahepatic bile duct cancer
is_a: MONDO:0019087 {source="DOID:4928", source="EFO:1001961", source="MONDO:Redundant", source="NCIT:C35417", source="ONCOTREE:IHCH"} ! cholangiocarcinoma
property_value: exactMatch DOID:4928
property_value: exactMatch http://identifiers.org/snomedct/109842005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345905
property_value: exactMatch NCIT:C35417
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma xsd:anyURI {source="GARD:0006042"}

[Term]
id: MONDO:0003211
name: nasal cavity adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the nasal cavity" [MONDO:DesignPattern]
synonym: "adenocarcinoma of nasal cavity" EXACT [DOID:4930, NCIT:C6015]
synonym: "adenocarcinoma of the nasal cavity" EXACT [DOID:4930, NCIT:C6015]
synonym: "nasal cavity adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6015]
xref: DOID:4930 {source="MONDO:equivalentTo"}
xref: NCIT:C6015 {source="DOID:4930", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334920 {source="DOID:4930", source="MONDO:equivalentTo", source="NCIT:C6015"}
is_a: MONDO:0003212 {source="DOID:4930", source="MONDO:Redundant", source="MONDOLEX:0003211", source="NCIT:C6015"} ! nasal cavity carcinoma
is_a: MONDO:0004970 {source="DOID:4930", source="MONDO:Redundant", source="MONDOLEX:0003211", source="NCIT:C6015"} ! adenocarcinoma
property_value: exactMatch DOID:4930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334920
property_value: exactMatch NCIT:C6015

[Term]
id: MONDO:0003212
name: nasal cavity carcinoma
def: "A carcinoma that arises from epithelial cells of the nasal cavity" [MONDO:DesignPattern]
synonym: "cancer of nasal cavity" EXACT [DOID:4931, NCIT:C9336]
synonym: "cancer of the nasal cavity" EXACT [NCIT:C9336]
synonym: "carcinoma of nasal cavity" EXACT [DOID:4931, MONDO:patterns/carcinoma, NCIT:C9336]
synonym: "carcinoma of the nasal cavity" EXACT [NCIT:C9336]
synonym: "nasal cavity cancer" EXACT [NCIT:C9336]
synonym: "nasal cavity carcinoma" EXACT [MONDO:patterns/location, NCIT:C9336]
xref: DOID:4931 {source="MONDO:equivalentTo"}
xref: NCIT:C9336 {source="MONDO:equivalentTo", source="DOID:4931"}
xref: SCTID:448990005 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
xref: UMLS:C1377785 {source="MONDO:equivalentTo", source="DOID:4931"}
is_a: MONDO:0001128 {source="DOID:4931", source="MONDO:Redundant", source="MONDOLEX:0003212", source="NCIT:C9336", source="linkedlifedata"} ! nasal cavity cancer
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9336/inferred"} ! head and neck carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3163933
property_value: exactMatch DOID:4931
property_value: exactMatch http://identifiers.org/snomedct/448990005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377785
property_value: exactMatch NCIT:C9336

[Term]
id: MONDO:0003213
name: obsolete ampulla of vater carcinoma
is_obsolete: true
replaced_by: MONDO:0006080

[Term]
id: MONDO:0003214
name: apocrine adenocarcinoma
def: "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." [NCIT:P378]
synonym: "apocrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4933]
synonym: "apocrine carcinoma" EXACT [DOID:4933, NCIT:C4169]
synonym: "apocrine gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "apocrine gland carcinoma" EXACT [DOID:4933, NCIT:C4169]
synonym: "carcinoma of apocrine gland" EXACT [NCIT:C4169]
synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933, NCIT:C5575]
xref: DOID:4933 {source="MONDO:equivalentTo"}
xref: GARD:0012138 {source="MONDO:equivalentTo"}
xref: ICDO:8401/3 {source="NCIT:C4169"}
xref: NCIT:C4169 {source="MONDO:equivalentTo"}
xref: UMLS:C0334346 {source="MONDO:equivalentTo", source="DOID:4933"}
xref: UMLS:C1706827 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4169"}
is_a: MONDO:0003215 {source="DOID:4933", source="NCIT:C4169"} ! apocrine sweat gland cancer
is_a: MONDO:0005524 {source="DOID:4933", source="MONDO:Redundant", source="NCIT:C4169"} ! sweat gland carcinoma
property_value: closeMatch http://identifiers.org/snomedct/57141000
property_value: exactMatch DOID:4933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706827
property_value: exactMatch NCIT:C4169

[Term]
id: MONDO:0003215
name: apocrine sweat gland cancer
def: "A malignant neoplasm involving the apocrine sweat gland." [MONDO:DesignPattern]
synonym: "apocrine sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of apocrine sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant apocrine neoplasm" EXACT [NCIT:C6800]
synonym: "malignant apocrine neoplasm of skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine neoplasm of the skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine skin neoplasm" EXACT [NCIT:C6800]
synonym: "malignant apocrine skin tumor" EXACT [NCIT:C6800]
synonym: "malignant apocrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant apocrine tumor" EXACT [DOID:4934, NCIT:C6800]
synonym: "malignant apocrine tumor of skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine tumor of the skin" EXACT [NCIT:C6800]
synonym: "malignant neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/cancer]
xref: DOID:4934 {source="MONDO:equivalentTo"}
xref: NCIT:C6800 {source="MONDO:equivalentTo", source="DOID:4934", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334561 {source="MONDO:equivalentTo", source="DOID:4934"}
is_a: MONDO:0002206 {source="DOID:4934", source="MONDO:Redundant", source="MONDOLEX:0003215", source="NCIT:C6800"} ! sweat gland cancer
is_a: MONDO:0003686 {source="MONDO:Redundant", source="MONDOLEX:0003215", source="NCIT:C6800"} ! apocrine sweat gland neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346031
property_value: exactMatch DOID:4934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334561
property_value: exactMatch NCIT:C6800

[Term]
id: MONDO:0003216
name: ureter adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the ureter" [MONDO:DesignPattern]
synonym: "adenocarcinoma of the ureter" EXACT [NCIT:C6155]
synonym: "adenocarcinoma of ureter" EXACT [DOID:4938, NCIT:C6155]
synonym: "ureter adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6155]
synonym: "ureteral adenocarcinoma" EXACT [DOID:4938, NCIT:C6155]
xref: DOID:4938 {source="MONDO:equivalentTo"}
xref: NCIT:C6155 {source="MONDO:equivalentTo", source="DOID:4938", source="exact-label-match"}
xref: UMLS:C1336873 {source="NCIT:C6155", source="MONDO:equivalentTo", source="DOID:4938"}
is_a: MONDO:0004970 {source="DOID:4938", source="MONDO:Redundant", source="MONDOLEX:0003216", source="NCIT:C6155"} ! adenocarcinoma
is_a: MONDO:0006481 {source="DOID:4938", source="MONDO:Redundant", source="MONDOLEX:0003216", source="NCIT:C6155"} ! ureter carcinoma
property_value: exactMatch DOID:4938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336873
property_value: exactMatch NCIT:C6155

[Term]
id: MONDO:0003217
name: obsolete ureter carcinoma
is_obsolete: true
replaced_by: MONDO:0006481

[Term]
id: MONDO:0003218
name: adenocarcinoma in situ
def: "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." [NCIT:C4123]
synonym: "adenocarcinoma in situ" EXACT [NCIT:C4123]
synonym: "AIS" RELATED [ONCOTREE:AIS]
xref: DOID:4943 {source="MONDO:equivalentTo"}
xref: ICDO:8140/2 {source="NCIT:C4123"}
xref: MESH:D065311 {source="DOID:4943", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4123 {source="DOID:4943", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:AIS {source="MONDO:equivalentTo"}
xref: UMLS:C0334276 {source="DOID:4943", source="MONDO:equivalentTo", source="NCIT:C4123"}
is_a: MONDO:0004647 {source="DOID:4943", source="MESH:D065311", source="MONDO:Redundant", source="MONDOLEX:0003218", source="NCIT:C4123"} ! in situ carcinoma
is_a: MONDO:0004970 {source="MESH:D065311", source="MONDO:Redundant", source="MONDOLEX:0003218", source="NCIT:C4123"} ! adenocarcinoma
intersection_of: MONDO:0004647 {source="NCIT:C4123"} ! in situ carcinoma
intersection_of: MONDO:0004970 {source="NCIT:C4123"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/51642000
property_value: exactMatch DOID:4943
property_value: exactMatch http://identifiers.org/mesh/D065311
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334276
property_value: exactMatch NCIT:C4123

[Term]
id: MONDO:0003219
name: gastroesophageal junction adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." [MONDO:DesignPattern]
synonym: "adenocarcinoma - GEJ" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of cardioesophageal junction" EXACT [DOID:4944, NCIT:C9296]
synonym: "adenocarcinoma of gastroesophageal junction" EXACT [DOID:4944, NCIT:C9296]
synonym: "adenocarcinoma of the cardioesophageal junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the EG junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the esophagogastric junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the gastroesophageal junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the GE junction" EXACT [NCIT:C9296]
synonym: "esophagogastric adenocarcinoma" RELATED [ONCOTREE:EGC]
synonym: "esophagogastric junction adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gastroesophageal junction adenocarcinoma" EXACT [NCIT:C9296]
xref: DOID:4944 {source="MONDO:equivalentTo"}
xref: NCIT:C9296 {source="MONDO:equivalentTo", source="DOID:4944", source="exact-label-match"}
xref: ONCOTREE:EGC {source="MONDO:equivalentTo"}
xref: ONCOTREE:GEJ {source="MONDO:equivalentTo"}
xref: UMLS:C1332166 {source="MONDO:equivalentTo", source="DOID:4944", source="NCIT:C9296"}
is_a: MONDO:0004970 {source="DOID:4944", source="MONDO:Redundant", source="MONDOLEX:0003219", source="NCIT:C9296"} ! adenocarcinoma
is_a: MONDO:0006181 {source="NCIT:C9296", source="OWLReasoner:2017"} ! digestive system carcinoma
property_value: exactMatch DOID:4944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332166
property_value: exactMatch NCIT:C9296

[Term]
id: MONDO:0003220
name: gallbladder carcinoma
def: "A carcinoma that arises from epithelial cells of the gall bladder" [MONDO:DesignPattern]
synonym: "cancer of gallbladder" EXACT [NCIT:C3844]
synonym: "cancer of the gallbladder" EXACT [DOID:4948, NCIT:C3844]
synonym: "carcinoma gallbladder" EXACT [DOID:4948]
synonym: "carcinoma of gall bladder" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of gallbladder" EXACT [NCIT:C3844]
synonym: "carcinoma of the gallbladder" EXACT [NCIT:C3844]
synonym: "gall bladder carcinoma" EXACT [MONDO:patterns/location]
synonym: "Gall bladder carcinoma (adeno)" EXACT [NCIT:C3844]
synonym: "Gall bladder carcinoma (adenocarcinoma)" EXACT [NCIT:C3844]
synonym: "gallbladder cancer" BROAD [NCIT:C3844]
synonym: "gallbladder carcinoma" EXACT [NCIT:C3844]
xref: DOID:4948 {source="MONDO:equivalentTo"}
xref: EFO:1001956 {source="MONDO:equivalentTo"}
xref: NCIT:C3844 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4948"}
xref: SCTID:372140005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.09", source="DOID:4948"}
xref: UMLS:C0235782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3844", source="DOID:4948"}
is_a: MONDO:0005411 {source="DOID:4948", source="MONDO:Redundant", source="MONDOLEX:0003220", source="NCIT:C3844", source="linkedlifedata", source="linkedlifedata/inferred"} ! gallbladder cancer
is_a: MONDO:0006181 {source="EFO:1001956", source="MONDO:Redundant", source="NCIT:C3844", source="OWLReasoner:2017"} ! digestive system carcinoma
property_value: closeMatch http://identifiers.org/snomedct/187782001
property_value: closeMatch http://identifiers.org/snomedct/255085003
property_value: closeMatch http://identifiers.org/snomedct/93810008
property_value: exactMatch DOID:4948
property_value: exactMatch http://identifiers.org/snomedct/372140005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235782
property_value: exactMatch NCIT:C3844

[Term]
id: MONDO:0003221
name: obsolete sclerosing hemangioma
is_obsolete: true
replaced_by: MONDO:0006280

[Term]
id: MONDO:0003222
name: central nervous system melanocytic neoplasm
def: "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." [NCIT:C5504]
synonym: "central nervous system melanocytic neoplasm" EXACT [MONDO:patterns/location, NCIT:C5504]
synonym: "central nervous system melanocytic neoplasms" EXACT [NCIT:C5504]
synonym: "central nervous system melanocytic tumor" EXACT [NCIT:C5504]
synonym: "central nervous system primary melanocytic lesion" RELATED [DOID:4955]
synonym: "CNS melanocytic neoplasm" EXACT [NCIT:C5504]
synonym: "CNS melanocytic tumor" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of CNS" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of the central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of the CNS" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of CNS" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of the central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955, NCIT:C5504]
synonym: "primary melanocytic lesion of meninges" RELATED [DOID:4955]
synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955, NCIT:C4661]
xref: DOID:4955 {source="MONDO:equivalentTo"}
xref: EFO:1000493 {source="MONDO:equivalentTo"}
xref: NCIT:C5504 {source="MONDO:equivalentTo", source="DOID:4955", source="exact-label-match"}
xref: SCTID:277523004 {source="MONDO:kboom-pr-1.00/0.80/9.27", source="MONDO:equivalentTo", source="DOID:4955"}
xref: UMLS:C1332887 {source="MONDO:equivalentTo", source="DOID:4955", source="NCIT:C5504"}
is_a: MONDO:0002714 {source="DOID:4955", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer
is_a: MONDO:0021143 {source="MONDO:Redundant", source="MONDOLEX:0003222", source="NCIT:C5504"} ! melanocytic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349623
property_value: closeMatch NCIT:C4661
property_value: exactMatch DOID:4955
property_value: exactMatch http://identifiers.org/snomedct/277523004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332887
property_value: exactMatch NCIT:C5504

[Term]
id: MONDO:0003223
name: meninges hemangiopericytoma
def: "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." [NCIT:C4660]
synonym: "hemangiopericytoma of meninges" EXACT [NCIT:C4660]
synonym: "hemangiopericytoma of the central nervous system" RELATED [ONCOTREE:HPCCNS]
synonym: "hemangiopericytoma of the meninges" EXACT [NCIT:C4660]
synonym: "meningeal cluster hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "meningeal hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660]
synonym: "meningeal solitary fibrous tumor/hemangiopericytoma" EXACT [NCIT:C4660]
synonym: "meninges hemangiopericytoma" EXACT [NCIT:C4660]
xref: DOID:4957 {source="MONDO:equivalentTo"}
xref: NCIT:C4660 {source="MONDO:equivalentTo", source="DOID:4957", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:HPCCNS {source="MONDO:equivalentTo"}
xref: SCTID:277522009 {source="MONDO:equivalentTo", source="DOID:4957", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349622 {source="NCIT:C4660", source="MONDO:equivalentTo", source="DOID:4957"}
is_a: MONDO:0005094 {source="DOID:4957", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangiopericytoma
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: exactMatch DOID:4957
property_value: exactMatch http://identifiers.org/snomedct/277522009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349622
property_value: exactMatch NCIT:C4660

[Term]
id: MONDO:0003224
name: obsolete spindle cell hemangioma
is_obsolete: true
replaced_by: MONDO:0016222

[Term]
id: MONDO:0003225
name: bone marrow disease
def: "Any disease of the bone marrow." [NCIT:C34433]
synonym: "bone marrow disease" EXACT [MONDO:patterns/location, NCIT:C34433]
synonym: "bone marrow disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "bone marrow disorder" EXACT [CSP2005:0427-3773, DOID:4961, NCIT:C34433]
synonym: "disease of bone marrow" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone marrow" EXACT []
synonym: "disorder of bone marrow" EXACT [MONDO:patterns/location_top]
synonym: "disorder of bone marrow" RELATED [MONDO:patterns/location_top]
xref: DOID:4961 {source="MONDO:equivalentTo"}
xref: ICD9:289.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001855 {source="DOID:4961", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34433 {source="DOID:4961", source="MONDO:equivalentTo"}
xref: SCTID:127035006 {source="DOID:4961", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0005956 {source="DOID:4961", source="MONDO:equivalentTo", source="NCIT:C34433"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0005570 {source="DOID:4961", source="MESH:D001855", source="MONDO:Entailed", source="MONDO:Redundant"} ! hematologic disease
property_value: exactMatch DOID:4961
property_value: exactMatch http://identifiers.org/mesh/D001855
property_value: exactMatch http://identifiers.org/snomedct/127035006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005956
property_value: exactMatch NCIT:C34433

[Term]
id: MONDO:0003226
name: obsolete Nelson syndrome
is_obsolete: true
replaced_by: MONDO:0016035

[Term]
id: MONDO:0003227
name: prosopagnosia (disease)
def: "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." [NCIT:C85031]
synonym: "face blindness" EXACT [NCIT:C85031]
synonym: "prosopagnosia" EXACT [MONDO:ambiguous, NCIT:C85031]
xref: DOID:4970 {source="MONDO:equivalentTo"}
xref: HP:0010528 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:R48.3 {source="DOID:4970"}
xref: NCIT:C85031 {source="DOID:4970", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.21"}
is_a: MONDO:0005638 {source="DOID:4970", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
property_value: closeMatch http://identifiers.org/mesh/D020238
property_value: closeMatch http://identifiers.org/snomedct/18358003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0234512
property_value: exactMatch DOID:4970
property_value: exactMatch NCIT:C85031

[Term]
id: MONDO:0003228
name: obsolete myelodysplastic/myeloproliferative neoplasm
is_obsolete: true
replaced_by: MONDO:0006311

[Term]
id: MONDO:0003229
name: obsolete lymphedema
is_obsolete: true
replaced_by: MONDO:0019297

[Term]
id: MONDO:0003230
name: obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor
is_obsolete: true
replaced_by: MONDO:0021039

[Term]
id: MONDO:0003231
name: acute nonparalytic poliomyelitis
def: "A poliomyelitis that does not exhibit paralysis." [http://en.wikipedia.org/wiki/Poliomyelitis]
synonym: "acute nonparalytic poliomyelitis" EXACT [DOID:4986]
synonym: "non-paralytic aseptic meningitis" NARROW [DOID:4986]
synonym: "nonparalytic poliomyelitis" EXACT [DOID:4986]
xref: DOID:4986 {source="MONDO:equivalentTo"}
xref: ICD10:A80.4 {source="MONDO:equivalentTo", source="DOID:4986"}
xref: ICD9:045.2 {source="DOID:4986"}
xref: ICD9:045.20 {source="MONDO:equivalentTo", source="DOID:4986", source="i2s"}
xref: ICD9:045.22 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:045.23 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:14535005 {source="MONDO:equivalentTo", source="DOID:4986", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0152998 {source="MONDO:equivalentTo", source="DOID:4986"}
is_a: MONDO:0017373 {source="DOID:4986", source="MONDOLEX:0003231", source="linkedlifedata"} ! poliomyelitis
property_value: exactMatch DOID:4986
property_value: exactMatch http://identifiers.org/snomedct/14535005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152998

[Term]
id: MONDO:0003232
name: alcoholic pancreatitis
def: "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512]
synonym: "alcoholic pancreatitis" EXACT [MESH:D019512]
xref: DOID:4988 {source="MONDO:equivalentTo"}
xref: EFO:1002013 {source="MONDO:equivalentTo"}
xref: MESH:D019512 {source="MONDO:equivalentTo", source="DOID:4988", source="MONDO:ontobio"}
xref: SCTID:445507008 {source="MONDO:equivalentTo", source="DOID:4988", source="MONDO:kboom-pr-1.00/0.74/6.20"}
xref: UMLS:C0376670 {source="MONDO:equivalentTo", source="DOID:4988"}
is_a: MONDO:0004982 {source="DOID:4988", source="EFO:1002013", source="MESH:D019512", source="MONDO:Redundant", source="linkedlifedata"} ! pancreatitis
is_a: MONDO:0021699 {source="MESH:D019512", source="linkedlifedata"} ! alcohol-induced disorders
property_value: exactMatch DOID:4988
property_value: exactMatch http://identifiers.org/mesh/D019512
property_value: exactMatch http://identifiers.org/snomedct/445507008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376670

[Term]
id: MONDO:0003233
name: essential tremor
def: "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" [MESH:D020329]
synonym: "benign essential tremor" EXACT [DOID:4990, MTHICD9_2006:333.1]
synonym: "essential hereditary tremor" NARROW [DOID:4990]
synonym: "shaky hand syndrome" EXACT [DOID:4990]
synonym: "tremor, hereditary essential" NARROW [OMIMPS:190300]
xref: COHD:43531003 {source="MONDO:equivalentTo"}
xref: DOID:4990 {source="MONDO:equivalentTo"}
xref: EFO:0003108 {source="MONDO:equivalentTo"}
xref: ICD10:G25.0 {source="MONDO:equivalentTo", source="DOID:4990"}
xref: ICD9:333.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020329 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4990"}
xref: OMIMPS:190300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:609558009 {source="MONDO:equivalentTo", source="DOID:4990", source="MONDO:kboom-pr-0.87/0.67/0.57"}
xref: UMLS:C0270736 {source="MONDO:equivalentTo", source="DOID:4990"}
is_a: MONDO:0005395 {source="DOID:4990", source="MESH:D020329", source="linkedlifedata"} ! movement disorder
property_value: closeMatch http://identifiers.org/snomedct/192839001
property_value: closeMatch http://identifiers.org/snomedct/632009
property_value: closeMatch Orphanet:862
property_value: exactMatch DOID:4990
property_value: exactMatch http://identifiers.org/mesh/D020329
property_value: exactMatch http://identifiers.org/snomedct/609558009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270736

[Term]
id: MONDO:0003234
name: optic nerve astrocytoma
def: "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." [MONDO:patterns/location]
synonym: "astrocytic tumor of optic nerve" EXACT [DOID:4991, NCIT:C6769]
synonym: "astrocytoma (excluding glioblastoma) of cranial nerve II" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of optic nerve" EXACT [NCIT:C6769]
synonym: "astrocytoma of the optic nerve" EXACT [NCIT:C6769]
synonym: "cranial nerve II astrocytoma (excluding glioblastoma)" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "optic nerve astrocytoma" EXACT [NCIT:C6769]
synonym: "optic tract astrocytoma" EXACT [DOID:4991, MONDO:patterns/location]
synonym: "optic tract astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4991 {source="MONDO:equivalentTo"}
xref: NCIT:C6769 {source="DOID:4991", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.19"}
xref: UMLS:C1335114 {source="DOID:4991", source="MONDO:equivalentTo", source="NCIT:C6769", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002433 ! malignant cranial nerve neoplasm
is_a: MONDO:0003235 {source="DOID:4991", source="MONDO:Redundant", source="NCIT:C6769"} ! optic nerve glioma
is_a: MONDO:0024649 ! optic tract astrocytoma
property_value: exactMatch DOID:4991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335114
property_value: exactMatch NCIT:C6769

[Term]
id: MONDO:0003235
name: optic nerve glioma
def: "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C4537]
synonym: "cranial nerve II glioma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "glioma of cranial nerve II" EXACT [MONDO:design_pattern]
synonym: "glioma of optic nerve" EXACT [NCIT:C4537]
synonym: "glioma of the optic nerve" EXACT [DOID:4992, NCIT:C4537]
synonym: "optic nerve glioma" EXACT [NCIT:C4537]
xref: DOID:4992 {source="MONDO:equivalentTo"}
xref: ICD9:237.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020339 {source="DOID:4992", source="MONDO:equivalentTo"}
xref: NCIT:C4537 {source="DOID:4992", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:254976006 {source="DOID:4992", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346326 {source="DOID:4992", source="MONDO:equivalentTo", source="NCIT:C4537"}
is_a: MONDO:0002640 {source="DOID:4992", source="MESH:D020339", source="MONDO:Redundant", source="NCIT:C4537", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic nerve neoplasm
is_a: MONDO:0016167 {source="NCIT:C4537"} ! optic pathway glioma
property_value: closeMatch http://identifiers.org/snomedct/404662003
property_value: exactMatch DOID:4992
property_value: exactMatch http://identifiers.org/mesh/D020339
property_value: exactMatch http://identifiers.org/snomedct/254976006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346326
property_value: exactMatch NCIT:C4537

[Term]
id: MONDO:0003236
name: atypical polypoid adenomyoma
def: "An adenomyoma characterized by the presence of marked glandular architectural complexity." [NCIT:P378]
synonym: "atypical polypoid adenomyoma" EXACT [DOID:4993, NCIT:C6895]
synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [DOID:4993]
xref: DOID:4993 {source="MONDO:equivalentTo"}
xref: NCIT:C6895 {source="DOID:4993", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1300347 {source="DOID:4993", source="MONDO:equivalentTo", source="NCIT:C6895"}
is_a: MONDO:0005635 {source="DOID:4993", source="NCIT:C6895"} ! adenomyoma
property_value: closeMatch http://identifiers.org/snomedct/388987001
property_value: closeMatch http://identifiers.org/snomedct/40293003
property_value: exactMatch DOID:4993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300347
property_value: exactMatch NCIT:C6895

[Term]
id: MONDO:0003237
name: adenomyoma of uterine corpus
def: "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." [NCIT:P378]
synonym: "adenomyoma of body of uterus" EXACT [NCIT:C6338]
synonym: "adenomyoma of corpus uteri" EXACT [DOID:4994, NCIT:C6338]
synonym: "adenomyoma of the body of uterus" EXACT [NCIT:C6338]
synonym: "adenomyoma of the corpus uteri" EXACT [NCIT:C6338]
synonym: "adenomyoma of the uterine body" EXACT [NCIT:C6338]
synonym: "adenomyoma of the uterine corpus" EXACT [NCIT:C6338]
synonym: "adenomyoma of uterine body" EXACT [NCIT:C6338]
synonym: "adenomyoma of uterine corpus" EXACT [NCIT:C6338]
synonym: "body of uterus adenomyoma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri adenomyoma" EXACT [NCIT:C6338]
synonym: "uterine body adenomyoma" EXACT [NCIT:C6338]
synonym: "uterine corpus adenomyoma" EXACT [NCIT:C6338]
xref: DOID:4994 {source="MONDO:equivalentTo"}
xref: NCIT:C6338 {source="DOID:4994", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336903 {source="DOID:4994", source="MONDO:equivalentTo", source="NCIT:C6338"}
is_a: MONDO:0005635 {source="DOID:4994", source="MONDO:Redundant", source="NCIT:C6338"} ! adenomyoma
is_a: MONDO:0021525 ! benign neoplasm of corpus uteri
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:4994"} ! uterine corpus cancer
property_value: exactMatch DOID:4994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336903
property_value: exactMatch NCIT:C6338

[Term]
id: MONDO:0003238
name: cervical adenomyoma
def: "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma." [NCIT:C40231]
synonym: "cervical adenomyoma" EXACT [NCIT:C40231]
xref: DOID:4995 {source="MONDO:equivalentTo"}
xref: NCIT:C40231 {source="DOID:4995", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516404 {source="DOID:4995", source="MONDO:equivalentTo", source="NCIT:C40231"}
is_a: MONDO:0005635 {source="DOID:4995", source="NCIT:C40231"} ! adenomyoma
property_value: exactMatch DOID:4995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516404
property_value: exactMatch NCIT:C40231

[Term]
id: MONDO:0003239
name: obsolete Camurati-Engelmann disease
is_obsolete: true
replaced_by: MONDO:0007542

[Term]
id: MONDO:0003240
name: thyroid gland disease
def: "A disease involving the thyroid gland." [MONDO:DesignPattern]
synonym: "disease of thyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of thyroid gland" EXACT []
synonym: "disorder of thyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of thyroid gland" RELATED [MONDO:patterns/location_top]
synonym: "thyroid disease" EXACT [MONDO:0006494]
synonym: "thyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26893]
synonym: "thyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thyroid gland diseases" EXACT [NCIT:C26893]
synonym: "thyroid gland diseases" RELATED [NCIT:C26893]
synonym: "thyroid gland disorder" EXACT [NCIT:C26893]
synonym: "thyroid gland disorders" EXACT [NCIT:C26893]
xref: COHD:141253 {source="MONDO:equivalentTo"}
xref: DOID:50 {source="MONDO:equivalentTo"}
xref: EFO:1000627 {source="MONDO:equivalentTo"}
xref: ICD10:E00-E07 {source="DOID:50"}
xref: ICD10:E00.E07 {source="MONDO:equivalentTo"}
xref: ICD10:E07.9 {source="DOID:50"}
xref: ICD9:240-246.99 {source="DOID:50"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:246.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:50"}
xref: MESH:D013959 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:50"}
xref: NCIT:C26893 {source="MONDO:equivalentTo", source="DOID:50"}
xref: SCTID:14304000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99", source="DOID:50"}
xref: UMLS:C0040128 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26893", source="MONDO:equivalentTo", source="DOID:50"}
xref: Wikipedia:Thyroid_disease {source="EFO:1000627"}
is_a: MONDO:0005151 {source="DOID:50", source="MESH:D013959", source="MONDO:Redundant", source="linkedlifedata"} ! endocrine system disease
property_value: closeMatch http://identifiers.org/snomedct/154649009
property_value: closeMatch http://identifiers.org/snomedct/190232008
property_value: closeMatch http://identifiers.org/snomedct/190311002
property_value: closeMatch http://identifiers.org/snomedct/191036006
property_value: exactMatch DOID:50
property_value: exactMatch http://identifiers.org/mesh/D013959
property_value: exactMatch http://identifiers.org/snomedct/14304000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040128
property_value: exactMatch NCIT:C26893

[Term]
id: MONDO:0003241
name: central nervous system hemangioma
def: "A hemangioma arising from the brain and spinal cord." [NCIT:C7004]
synonym: "central nervous system hemangioma" EXACT [MONDO:patterns/location, NCIT:C7004]
synonym: "hemangioma of central nervous system" EXACT [NCIT:C7004]
synonym: "hemangioma of CNS" EXACT [DOID:501, NCIT:C7004]
synonym: "hemangioma of the central nervous system" EXACT [NCIT:C7004]
synonym: "hemangioma of the CNS" EXACT [NCIT:C7004]
xref: DOID:501 {source="MONDO:equivalentTo"}
xref: NCIT:C7004 {source="DOID:501", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333957 {source="DOID:501", source="NCIT:C7004", source="MONDO:equivalentTo"}
is_a: MONDO:0000628 ! central nervous system organ benign neoplasm
is_a: MONDO:0006500 {source="DOID:501", source="MONDO:Redundant", source="NCIT:C7004"} ! hemangioma
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333957
property_value: exactMatch NCIT:C7004

[Term]
id: MONDO:0003242
name: obsolete fibrolamellar carcinoma
is_obsolete: true
replaced_by: MONDO:0006210

[Term]
id: MONDO:0003243
name: hepatocellular clear cell carcinoma
def: "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." [NCIT:P378]
synonym: "clear cell carcinoma of liver cells" EXACT [NCIT:C5754]
synonym: "clear cell carcinoma of the liver cells" EXACT [DOID:5016, NCIT:C5754]
synonym: "clear cell hepatocellular cancer" EXACT [NCIT:C5754]
synonym: "clear cell hepatocellular carcinoma" EXACT [NCIT:C5754]
synonym: "hepatocellular clear cell carcinoma" EXACT [NCIT:C5754]
synonym: "liver cell clear cell carcinoma" EXACT [NCIT:C5754]
xref: DOID:5016 {source="MONDO:equivalentTo"}
xref: ICDO:8174/3 {source="NCIT:C5754"}
xref: NCIT:C5754 {source="DOID:5016", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333067 {source="DOID:5016", source="MONDO:equivalentTo", source="NCIT:C5754"}
is_a: MONDO:0005004 {source="MONDO:Redundant", source="MONDOLEX:0003243", source="NCIT:C5754"} ! clear cell adenocarcinoma
is_a: MONDO:0007256 {source="DOID:5016", source="DOID:5016/inferred", source="MONDO:Redundant", source="NCIT:C5754"} ! hepatocellular carcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: MONDO:0007256 ! hepatocellular carcinoma
property_value: exactMatch DOID:5016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333067
property_value: exactMatch NCIT:C5754

[Term]
id: MONDO:0003244
name: central nervous system mesenchymal non-meningothelial tumor
def: "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" [NCIT:P378]
synonym: "central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C5449]
synonym: "central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C5449]
synonym: "central nervous system soft tissue neoplasm" EXACT [NCIT:C5449]
synonym: "central nervous system soft tissue tumor" EXACT [NCIT:C5449]
synonym: "CNS soft tissue neoplasm" EXACT [NCIT:C5449]
synonym: "CNS soft tissue tumor" EXACT [NCIT:C5449]
synonym: "mesenchymal non-meningothelial tumor of the central nervous system" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumor of central nervous system" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumor of CNS" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumor of the CNS" EXACT [NCIT:C5449]
synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502, NCIT:C6972]
synonym: "soft tissue neoplasm of central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of CNS" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of the central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of the CNS" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of CNS" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of the central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of the CNS" EXACT [NCIT:C5449]
xref: DOID:502 {source="MONDO:equivalentTo"}
xref: NCIT:C5449 {source="MONDO:equivalentTo"}
xref: UMLS:C1332893 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5449"}
is_a: MONDO:0006424 {source="NCIT:C5449"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002714 {source="DOID:502"} ! central nervous system cancer
property_value: exactMatch DOID:502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332893
property_value: exactMatch NCIT:C5449

[Term]
id: MONDO:0003245
name: aflatoxin-related hepatocellular carcinoma
def: "A hepatocellular carcinoma that develops following exposure to aflatoxin." [NCIT:C27922]
synonym: "aflatoxins-related hepatocellular cancer" EXACT [NCIT:C27922]
synonym: "aflatoxins-related hepatocellular carcinoma" EXACT [NCIT:C27922]
xref: DOID:5022 {source="MONDO:equivalentTo"}
xref: NCIT:C27922 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5022"}
xref: UMLS:C1332222 {source="MONDO:equivalentTo", source="NCIT:C27922", source="DOID:5022"}
is_a: MONDO:0007256 {source="DOID:5022", source="DOID:5022/inferred", source="MONDO:Redundant", source="NCIT:C27922"} ! hepatocellular carcinoma
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch DOID:5022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332222
property_value: exactMatch NCIT:C27922

[Term]
id: MONDO:0003246
name: sclerosing hepatic carcinoma
def: "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." [NCIT:P378]
synonym: "scirrhous hepatocellular cancer" EXACT [NCIT:C27388]
synonym: "scirrhous hepatocellular carcinoma" EXACT [NCIT:C27388]
synonym: "sclerosing hepatic carcinoma" EXACT [DOID:5026, NCIT:C27388]
synonym: "sclerosing hepatocellular carcinoma" EXACT [DOID:5026, NCIT:C27388]
xref: DOID:5026 {source="MONDO:equivalentTo"}
xref: ICDO:8172/3 {source="NCIT:C27388"}
xref: NCIT:C27388 {source="DOID:5026", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1266018 {source="DOID:5026", source="NCIT:C27388", source="MONDO:equivalentTo"}
is_a: MONDO:0007256 {source="DOID:5026", source="DOID:5026/inferred", source="NCIT:C27388"} ! hepatocellular carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128646008
property_value: exactMatch DOID:5026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266018
property_value: exactMatch NCIT:C27388

[Term]
id: MONDO:0003247
name: obsolete pineal parenchymal tumor of intermediate differentiation
is_obsolete: true
replaced_by: MONDO:0006369

[Term]
id: MONDO:0003248
name: adult pineal parenchymal tumor
def: "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." [NCIT:C8273]
synonym: "adult pineal gland neoplasm" EXACT [NCIT:C8273]
synonym: "adult pineal gland tumor" EXACT [NCIT:C8273]
synonym: "adult pineal parenchymal cell neoplasm" EXACT [NCIT:C8273]
synonym: "adult pineal parenchymal cell tumor" EXACT [NCIT:C8273]
synonym: "adult pineal parenchymal neoplasm" EXACT [DOID:5031, NCIT:C8273]
synonym: "adult pineal parenchymal tumor" EXACT [NCIT:C8273]
synonym: "parenchymal neoplasm of adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal neoplasm of the adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal tumor of adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal tumor of the adult pineal gland" EXACT [NCIT:C8273]
synonym: "pineal parenchymal cell neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "pineal parenchymal cell tumor" EXACT [NCIT:C8273]
xref: DOID:5031 {source="MONDO:equivalentTo"}
xref: NCIT:C8273 {source="MONDO:kboom-pr-0.96/0.92/0.34", source="MONDO:equivalentTo", source="DOID:5031"}
xref: UMLS:C0280794 {source="MONDO:equivalentTo", source="DOID:5031", source="NCIT:C8273"}
is_a: MONDO:0024890 {source="MONDO:Redundant", source="NCIT:C8273"} ! pineal parenchymal cell neoplasm
relationship: excluded_subClassOf MONDO:0003249 {source="DOID:5031"} ! pineal gland cancer
property_value: exactMatch DOID:5031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280794
property_value: exactMatch NCIT:C8273

[Term]
id: MONDO:0003249
name: pineal gland cancer
def: "Abnormal malignant growth of the cells that comprise the pineal parenchyma." [NCIT:C3573]
synonym: "cancer of pineal body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pineal body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pineal gland" EXACT [NCIT:C3573]
synonym: "malignant neoplasm of the pineal gland" EXACT [NCIT:C3573]
synonym: "malignant pineal area neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal area tumor" EXACT [NCIT:C3573]
synonym: "malignant pineal body neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pineal gland neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal gland tumor" EXACT [NCIT:C3573]
synonym: "malignant pineal region neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal region tumor" EXACT [DOID:5032, NCIT:C3573]
synonym: "malignant tumor of pineal gland" EXACT [DOID:5032, NCIT:C3573]
synonym: "malignant tumor of the pineal gland" EXACT [NCIT:C3573]
synonym: "neoplasm of pineal gland" EXACT EXCLUDE [DOID:5032]
synonym: "neoplasm of the pineal region" EXACT [DOID:5032]
synonym: "pineal body cancer" EXACT [MONDO:patterns/location]
synonym: "pineal body neoplasm" EXACT EXCLUDE [DOID:5032]
synonym: "pinealoma" EXACT [DOID:5032]
synonym: "Pineocytic tumor" EXACT [DOID:5032]
synonym: "tumor of the pineal region" EXACT [DOID:5032]
xref: DOID:5032 {source="MONDO:equivalentTo"}
xref: ICD10:C75.3 {source="DOID:5032"}
xref: ICD9:194.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:5032"}
xref: NCIT:C3573 {source="MONDO:equivalentTo", source="DOID:5032"}
xref: SCTID:363483004 {source="MONDO:kboom-pr-0.90/0.76/0.52", source="MONDO:equivalentTo", source="DOID:5032"}
is_a: MONDO:0003766 ! thalamic cancer
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C3573"} ! pineal body neoplasm
property_value: closeMatch http://identifiers.org/mesh/D010871
property_value: closeMatch http://identifiers.org/snomedct/127026004
property_value: closeMatch http://identifiers.org/snomedct/359619007
property_value: closeMatch http://identifiers.org/snomedct/47598005
property_value: closeMatch http://identifiers.org/snomedct/93962006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153655
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412004
property_value: exactMatch DOID:5032
property_value: exactMatch http://identifiers.org/snomedct/363483004
property_value: exactMatch NCIT:C3573

[Term]
id: MONDO:0003250
name: benign granular cell tumor
def: "A granular cell tumor that is confined to the site of origin, without metastatic potential." [NCIT:C3252]
synonym: "benign granular cell myoblastoma" EXACT [NCIT:C3252]
synonym: "benign granular cell neoplasm" EXACT [NCIT:C3252]
synonym: "benign granular cell tumor" EXACT [DOID:5039, NCIT:C3252]
synonym: "granular cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C3252]
synonym: "myoblastoma" EXACT [NCIT:C3252]
xref: DOID:5039 {source="MONDO:equivalentTo"}
xref: NCIT:C3252 {source="DOID:5039", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0027043 {source="DOID:5039", source="NCIT:C3252", source="MONDO:equivalentTo"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="MONDOLEX:0003250", source="NCIT:C3252"} ! granular cell tumor
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch DOID:5039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027043
property_value: exactMatch NCIT:C3252

[Term]
id: MONDO:0003251
name: esophageal granular cell tumor
def: "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003" [NCIT:C5700]
synonym: "esophageal granular cell myoblastoma" EXACT [NCIT:C5700]
synonym: "esophageal granular cell neoplasm" EXACT [NCIT:C5700]
synonym: "esophageal granular cell tumor" EXACT [NCIT:C5700]
synonym: "esophagus granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "granular cell esophageal tumor" EXACT [NCIT:C5700]
synonym: "granular cell esophagus myoblastoma" EXACT [NCIT:C5700]
synonym: "granular cell esophagus neoplasm" EXACT [NCIT:C5700]
synonym: "granular cell esophagus tumor" EXACT [NCIT:C5700]
synonym: "granular cell myoblastoma of esophagus" EXACT [NCIT:C5700]
synonym: "granular cell myoblastoma of the esophagus" EXACT [NCIT:C5700]
synonym: "granular cell neoplasm of esophagus" EXACT [NCIT:C5700]
synonym: "granular cell neoplasm of the esophagus" EXACT [NCIT:C5700]
synonym: "granular cell tumor of esophagus" EXACT [DOID:5040, NCIT:C5700]
synonym: "granular cell tumor of the esophagus" EXACT [NCIT:C5700]
synonym: "malignant granular cell esophageal tumor" RELATED [DOID:5040]
xref: DOID:5040 {source="MONDO:equivalentTo"}
xref: NCIT:C5700 {source="MONDO:equivalentTo", source="DOID:5040"}
xref: UMLS:C1333448 {source="MONDO:equivalentTo", source="DOID:5040", source="NCIT:C5700"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="MONDOLEX:0003251", source="NCIT:C5700"} ! granular cell tumor
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C5700"} ! neoplasm of esophagus
property_value: exactMatch DOID:5040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333448
property_value: exactMatch NCIT:C5700

[Term]
id: MONDO:0003252
name: granular cell cancer
def: "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." [NCIT:P378]
synonym: "granular cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4336]
synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [DOID:5042]
synonym: "malignant granular cell myoblastoma" EXACT [MONDO:0021087, NCIT:C4336]
synonym: "malignant granular cell neoplasm" EXACT [DOID:5042, NCIT:C4336]
synonym: "malignant granular cell tumor" EXACT [NCIT:C4336]
synonym: "myoblastoma, malignant" EXACT [NCIT:C4336]
xref: DOID:5042 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9580/3 {source="NCIT:C4336"}
xref: NCIT:C4336 {source="MONDO:equivalentTo", source="DOID:5042"}
xref: SCTID:404041003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.40", source="DOID:5042"}
xref: UMLS:C0334618 {source="MONDO:equivalentTo", source="NCIT:C4336", source="DOID:5042"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="MONDOLEX:0003252", source="NCIT:C4336"} ! granular cell tumor
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: closeMatch http://identifiers.org/snomedct/13238004
property_value: exactMatch DOID:5042
property_value: exactMatch http://identifiers.org/snomedct/404041003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334618
property_value: exactMatch NCIT:C4336

[Term]
id: MONDO:0003253
name: vulvar granular cell tumor
def: "A usually benign granular cell tumor that arises from the vulva." [NCIT:C40328]
synonym: "granular cell tumor of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "vulvar granular cell tumor" EXACT [NCIT:C40328]
xref: DOID:5043 {source="MONDO:equivalentTo"}
xref: NCIT:C40328 {source="MONDO:equivalentTo", source="DOID:5043", source="exact-label-match"}
xref: UMLS:C1520083 {source="NCIT:C40328", source="MONDO:equivalentTo", source="DOID:5043"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="MONDOLEX:0003253", source="NCIT:C40328"} ! granular cell tumor
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40328"} ! vulvar neoplasm
property_value: exactMatch DOID:5043
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520083
property_value: exactMatch NCIT:C40328

[Term]
id: MONDO:0003254
name: cardiac granular cell neoplasm
def: "A very rare granular cell tumor that arises from the heart." [NCIT:C5360]
synonym: "Cardiac granular cell neoplasm" EXACT [NCIT:C5360]
synonym: "Cardiac granular cell tumor" EXACT [NCIT:C5360]
synonym: "granular cell neoplasm of heart" EXACT [NCIT:C5360]
synonym: "granular cell neoplasm of the heart" EXACT [NCIT:C5360]
synonym: "granular cell tumor of heart" EXACT [DOID:5044, NCIT:C5360]
synonym: "granular cell tumor of the heart" EXACT [NCIT:C5360]
synonym: "heart granular cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5044 {source="MONDO:equivalentTo"}
xref: NCIT:C5360 {source="MONDO:equivalentTo", source="DOID:5044"}
xref: UMLS:C1332845 {source="NCIT:C5360", source="MONDO:equivalentTo", source="DOID:5044"}
is_a: MONDO:0003250 ! benign granular cell tumor
is_a: MONDO:0021508 ! benign neoplasm of epicardium
property_value: exactMatch DOID:5044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332845
property_value: exactMatch NCIT:C5360

[Term]
id: MONDO:0003255
name: mediastinal granular cell myoblastoma
def: "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum." [NCIT:C6601]
synonym: "granular cell myoblastoma of mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell myoblastoma of the mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell neoplasm of mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell neoplasm of the mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell tumor of mediastinum" EXACT [DOID:5046, NCIT:C6601]
synonym: "granular cell tumor of the mediastinum" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell myoblastoma" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell neoplasm" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell tumor" EXACT [NCIT:C6601]
synonym: "mediastinum granular cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5046 {source="MONDO:equivalentTo"}
xref: NCIT:C6601 {source="DOID:5046", source="MONDO:equivalentTo"}
xref: UMLS:C1334656 {source="DOID:5046", source="MONDO:equivalentTo", source="NCIT:C6601"}
is_a: MONDO:0006235 {source="DOID:5046", source="MONDO:Redundant", source="MONDOLEX:0003255", source="NCIT:C6601"} ! granular cell tumor
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6601"} ! neoplasm of mediastinum
relationship: excluded_subClassOf MONDO:0003098 {source="DOID:5046"} ! mediastinal neural neoplasm
property_value: exactMatch DOID:5046
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334656
property_value: exactMatch NCIT:C6601

[Term]
id: MONDO:0003256
name: neurohypophysis granular cell tumor
def: "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" [NCIT:C7017]
synonym: "granular cell tumor of Neurohypophysis" EXACT [NCIT:C7017]
synonym: "granular cell tumor of neurohypophysis" EXACT []
synonym: "granular cell tumor of the neurohypophysis" EXACT [MONDO:0006236, NCIT:C7017]
synonym: "granular cell tumor of the Neurohypophysis (WHO grade I)" EXACT [NCIT:C7017]
synonym: "granular cell tumor of the posterior pituitary gland" EXACT [NCIT:C7017]
synonym: "neurohypophysis granular cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5047 {source="MONDO:equivalentTo"}
xref: EFO:1000285 {source="MONDO:equivalentTo"}
xref: ICDO:9582/0 {source="NCIT:C7017"}
xref: NCIT:C7017 {source="DOID:5047", source="EFO:1000285", source="MONDO:equivalentTo"}
xref: SCTID:699331002 {source="DOID:5047", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333873 {source="DOID:5047", source="MONDO:equivalentTo", source="NCIT:C7017"}
is_a: MONDO:0003257 {source="DOID:5047", source="MONDO:Redundant", source="MONDOLEX:0003256", source="NCIT:C7017"} ! posterior pituitary gland neoplasm
is_a: MONDO:0006235 {source="DOID:5047", source="MONDO:Redundant", source="MONDOLEX:0003256", source="NCIT:C7017", source="linkedlifedata"} ! granular cell tumor
property_value: exactMatch DOID:5047
property_value: exactMatch http://identifiers.org/snomedct/699331002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333873
property_value: exactMatch NCIT:C7017

[Term]
id: MONDO:0003257
name: posterior pituitary gland neoplasm
def: "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." [NCIT:C7157]
synonym: "neoplasm of neurohypophysis" EXACT [MONDO:patterns/neoplasm]
synonym: "Neurohypophysis neoplasm" EXACT [NCIT:C7157]
synonym: "neurohypophysis neoplasm" EXACT []
synonym: "neurohypophysis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Neurohypophysis tumor" EXACT [NCIT:C7157]
synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "PITUICYTOMA, benign" EXACT [NCIT:C7157]
synonym: "posterior pituitary gland neoplasm" EXACT [NCIT:C7157]
synonym: "posterior pituitary gland tumor" EXACT [NCIT:C7157]
synonym: "posterior pituitary neoplasm" EXACT [NCIT:C7157]
synonym: "posterior pituitary tumor" EXACT [DOID:5048, NCIT:C7157]
synonym: "tumor of neurohypophysis" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5048 {source="MONDO:equivalentTo"}
xref: NCIT:C7157 {source="DOID:5048", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334957 {source="DOID:5048", source="NCIT:C7157", source="MONDO:equivalentTo"}
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C7157", source="OWLReasoner:2017"} ! pituitary tumor
property_value: exactMatch DOID:5048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334957
property_value: exactMatch NCIT:C7157

[Term]
id: MONDO:0003258
name: hobnail hemangioma
def: "A hemangioma characterized by the presence of hobnail endothelial cells." [NCIT:C27506]
synonym: "hobnail hemangioma" EXACT [NCIT:C27506]
synonym: "Targetoid Hemosiderotic hemangioma" EXACT [NCIT:C27506]
xref: DOID:505 {source="MONDO:equivalentTo"}
xref: NCIT:C27506 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:254790003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346076 {source="MONDO:equivalentTo", source="NCIT:C27506"}
is_a: MONDO:0006500 {source="DOID:505", source="NCIT:C27506", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma
property_value: exactMatch DOID:505
property_value: exactMatch http://identifiers.org/snomedct/254790003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346076
property_value: exactMatch NCIT:C27506

[Term]
id: MONDO:0003259
name: obsolete melioidosis
is_obsolete: true
replaced_by: MONDO:0017775

[Term]
id: MONDO:0003260
name: adult cerebellar neoplasm
def: "A cerebellar neoplasm that occurs in an adult." [MONDO:design_pattern]
synonym: "adult cerebellar neoplasm" EXACT [NCIT:C5968]
synonym: "adult cerebellar neoplasms" EXACT [NCIT:C5968]
synonym: "adult cerebellar tumor" EXACT [NCIT:C5968]
synonym: "adult cerebellar tumors" EXACT [NCIT:C5968]
synonym: "cerebellar neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult cerebellum" EXACT [NCIT:C5968]
synonym: "neoplasm of the adult cerebellum" EXACT [NCIT:C5968]
synonym: "tumor of adult cerebellum" EXACT [DOID:5056, NCIT:C5968]
synonym: "tumor of the adult cerebellum" EXACT [NCIT:C5968]
xref: DOID:5056 {source="MONDO:equivalentTo"}
xref: NCIT:C5968 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5056"}
xref: UMLS:C1332197 {source="MONDO:equivalentTo", source="DOID:5056", source="NCIT:C5968"}
is_a: MONDO:0002913 {source="DOID:5056", source="MONDO:Redundant", source="NCIT:C5968"} ! cerebellar neoplasm
property_value: exactMatch DOID:5056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332197
property_value: exactMatch NCIT:C5968

[Term]
id: MONDO:0003261
name: papillary meningioma of the cerebellum
def: "A papillary meningioma that affects the cerebellum." [NCIT:C5270]
synonym: "cerebellar papillary meningioma" RELATED [NCIT:C5270]
synonym: "cerebellum papillary meningioma" EXACT [MONDO:patterns/location]
synonym: "papillary meningioma of cerebellum" EXACT [DOID:5057, NCIT:C5270]
synonym: "papillary meningioma of the cerebellum" EXACT [NCIT:C5270]
xref: DOID:5057 {source="MONDO:equivalentTo"}
xref: NCIT:C5270 {source="DOID:5057", source="MONDO:equivalentTo", source="NCIT:C5270"}
xref: UMLS:C1332902 {source="DOID:5057", source="MONDO:equivalentTo", source="NCIT:C5270"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0002913 {source="DOID:5057", source="MONDO:Redundant", source="NCIT:C5270", source="OWLReasoner:2017"} ! cerebellar neoplasm
is_a: MONDO:0021088 {source="MONDO:Redundant", source="MONDOLEX:0003261", source="NCIT:C5270", source="OWLReasoner:2017"} ! papillary meningioma
property_value: exactMatch DOID:5057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332902
property_value: exactMatch NCIT:C5270

[Term]
id: MONDO:0003262
name: rhabdoid meningioma
def: "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." [NCIT:C6909]
synonym: "meningioma, rhabdoid" EXACT [DOID:5058]
synonym: "meningioma, rhabdoid (morphologic abnormality)" EXACT [DOID:5058]
synonym: "papillary meningioma" EXACT [DOID:5058, NCIT:C3904]
synonym: "papillary meningioma (morphologic abnormality)" EXACT [DOID:5058]
synonym: "rhabdoid meningioma" EXACT [DOID:5058, NCIT:C6909]
xref: DOID:5058 {source="MONDO:equivalentTo"}
xref: NCIT:C6909 {source="DOID:5058", source="MONDO:equivalentTo"}
xref: ONCOTREE:RHM {source="MONDO:equivalentTo"}
xref: UMLS:C0259786 {source="DOID:5058", source="NCIT:C6909", source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="DOID:5058", source="MONDOLEX:0003262", source="NCIT:C6909/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/399469000
property_value: exactMatch DOID:5058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259786
property_value: exactMatch NCIT:C6909

[Term]
id: MONDO:0003263
name: childhood cerebellar neoplasm
def: "A neoplasm that affects the cerebellum and occurs during childhood." [NCIT:C5970]
synonym: "childhood cerebellar neoplasm" EXACT [NCIT:C5970]
synonym: "childhood cerebellar neoplasms" EXACT [NCIT:C5970]
synonym: "childhood cerebellar tumor" EXACT [NCIT:C5970]
synonym: "childhood cerebellar tumors" EXACT [NCIT:C5970]
synonym: "childhood neoplasm of cerebellum" EXACT [NCIT:C5970]
synonym: "childhood neoplasm of the cerebellum" EXACT [NCIT:C5970]
synonym: "childhood tumor of cerebellum" EXACT [NCIT:C5970]
synonym: "childhood tumor of the cerebellum" EXACT [NCIT:C5970]
synonym: "pediatric cerebellar neoplasm" EXACT [NCIT:C5970]
synonym: "pediatric cerebellar tumor" EXACT [NCIT:C5970]
synonym: "pediatric neoplasm of cerebellum" EXACT [NCIT:C5970]
synonym: "pediatric neoplasm of the cerebellum" EXACT [NCIT:C5970]
synonym: "pediatric tumor of cerebellum" EXACT [DOID:5059, NCIT:C5970]
synonym: "pediatric tumor of the cerebellum" EXACT [NCIT:C5970]
xref: DOID:5059 {source="MONDO:equivalentTo"}
xref: NCIT:C5970 {source="DOID:5059", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332959 {source="DOID:5059", source="NCIT:C5970", source="MONDO:equivalentTo"}
is_a: MONDO:0002913 {source="DOID:5059", source="MONDO:Redundant", source="NCIT:C5970"} ! cerebellar neoplasm
is_a: MONDO:0002915 {source="MONDO:Redundant", source="NCIT:C5970"} ! childhood infratentorial neoplasm
intersection_of: MONDO:0002913 {source="NCIT:C5970"} ! cerebellar neoplasm
intersection_of: MONDO:0002915 {source="NCIT:C5970"} ! childhood infratentorial neoplasm
property_value: exactMatch DOID:5059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332959
property_value: exactMatch NCIT:C5970

[Term]
id: MONDO:0003264
name: basosquamous carcinoma
alt_id: MONDO:0006413
def: "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." [NCIT:C2922]
synonym: "Basisquamous cell carcinoma" EXACT [DOID:5063]
synonym: "basosquamous carcinoma" EXACT [NCIT:C2922]
synonym: "basosquamous cell carcinoma" EXACT [CSP2005:2000-2932, DOID:5063, NCIT:C2922]
synonym: "basosquamous tumor, malignant" EXACT [NCIT:C2922]
synonym: "metatypical carcinoma" EXACT [DOID:5063]
synonym: "metatypical carcinoma (morphologic abnormality)" EXACT [DOID:5063]
synonym: "skin basosquamous cell carcinoma" EXACT [NCIT:C2922]
synonym: "skin mixed basal and squamous cell carcinoma" EXACT [NCIT:C2922]
xref: DOID:5063 {source="MONDO:equivalentTo"}
xref: EFO:1000529 {source="MONDO:equivalentTo"}
xref: ICDO:8094/3 {source="NCIT:C2922"}
xref: MESH:D002281 {source="MONDO:equivalentTo", source="DOID:5063", source="MONDO:ontobio"}
xref: NCIT:C2922 {source="EFO:1000529", source="MONDO:equivalentTo", source="DOID:5063"}
xref: UMLS:C0007118 {source="MONDO:equivalentTo", source="DOID:5063", source="NCIT:C2922"}
is_a: MONDO:0005341 {source="DOID:5063", source="NCIT:C2922"} ! skin basal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/37304002
property_value: closeMatch http://identifiers.org/snomedct/6641007
property_value: exactMatch DOID:5063
property_value: exactMatch http://identifiers.org/mesh/D002281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007118
property_value: exactMatch NCIT:C2922

[Term]
id: MONDO:0003265
name: adjustment disorder
def: "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." [NCIT:C92191]
synonym: "adaptation reaction" RELATED []
synonym: "adjustment disease" EXACT [DOID:507]
synonym: "adjustment disorder" EXACT [MESH:D000275, NCIT:C92191]
synonym: "adjustment reaction" EXACT [DOID:507]
synonym: "disorder, adjustment" RELATED [MESH:D000275]
synonym: "disorder, reactive" RELATED [MESH:D000275]
synonym: "disorders, adjustment" RELATED [MESH:D000275]
synonym: "disorders, reactive" RELATED [MESH:D000275]
xref: COHD:436677 {source="MONDO:equivalentTo"}
xref: DOID:507 {source="MONDO:equivalentTo"}
xref: ICD9:309 {source="DOID:507"}
xref: ICD9:309.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:309.9 {source="DOID:507", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000275 {source="MONDO:equivalentTo"}
xref: NCIT:C92191 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:17226007 {source="DOID:507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005084 {source="linkedlifedata"} ! mental disorder
property_value: closeMatch http://identifiers.org/snomedct/192068001
property_value: closeMatch http://identifiers.org/snomedct/268781004
property_value: closeMatch http://identifiers.org/snomedct/367487002
property_value: closeMatch http://identifiers.org/snomedct/63608001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001546
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040701
property_value: exactMatch DOID:507
property_value: exactMatch http://identifiers.org/mesh/D000275
property_value: exactMatch http://identifiers.org/snomedct/17226007
property_value: exactMatch NCIT:C92191

[Term]
id: MONDO:0003266
name: ependymal tumor
def: "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" [NCIT:C6770]
subset: ordo_group_of_disorders {source="Orphanet:301"}
synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770]
synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770]
synonym: "ependymal tumors" EXACT [DOID:5074]
synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT]
xref: EFO:1000027 {source="MONDO:equivalentTo"}
xref: ICD10:C71.7 {source="Orphanet:301", source="ORDO:301/ntbt"}
xref: NCIT:C6770 {source="MONDO:equivalentTo"}
xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"}
xref: Orphanet:301 {source="MONDO:equivalentTo"}
xref: UMLS:C1333407 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6770", source="MONDO:equivalentTo"}
xref: UMLS:CN203416 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021042 {source="NCIT:C6770"} ! glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203416
property_value: exactMatch NCIT:C6770
property_value: exactMatch Orphanet:301

[Term]
id: MONDO:0003267
name: obsolete myxopapillary ependymoma
is_obsolete: true
replaced_by: MONDO:0016699

[Term]
id: MONDO:0003268
name: mixed glioma
def: "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." [NCIT:C3903]
synonym: "glioma, mixed" EXACT [NCIT:C3903]
synonym: "glioma, mixed, malignant" EXACT [NCIT:C3903]
synonym: "mixed glial neoplasm" EXACT [NCIT:C3903]
synonym: "mixed glial tumor" EXACT [NCIT:C3903]
synonym: "mixed glioma" EXACT [NCIT:C3903]
synonym: "mixed glioma (morphologic abnormality)" EXACT [DOID:5076]
synonym: "mixed gliomas" EXACT [DOID:5076, MTH:NOCODE]
synonym: "mixed neuroglial neoplasm" EXACT [NCIT:C3903]
synonym: "mixed neuroglial tumor" EXACT [DOID:5076, NCIT:C3903]
xref: DOID:5076 {source="MONDO:equivalentTo"}
xref: ICDO:9382/3 {source="NCIT:C3903"}
xref: NCIT:C3903 {source="MONDO:equivalentTo", source="DOID:5076"}
xref: SCTID:443937008 {source="MONDO:equivalentTo", source="DOID:5076", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0259783 {source="NCIT:C3903", source="MONDO:equivalentTo", source="DOID:5076"}
is_a: MONDO:0021042 {source="NCIT:C3903/inferred", source="linkedlifedata"} ! glioma
is_a: MONDO:0021043 {source="NCIT:C3903"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/22217002
property_value: exactMatch DOID:5076
property_value: exactMatch http://identifiers.org/snomedct/443937008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259783
property_value: exactMatch NCIT:C3903

[Term]
id: MONDO:0003269
name: obsolete subependymal giant cell astrocytoma
is_obsolete: true
replaced_by: MONDO:0016693

[Term]
id: MONDO:0003270
name: obsolete ganglioglioma
is_obsolete: true
replaced_by: MONDO:0016733

[Term]
id: MONDO:0003271
name: iodine hypothyroidism
xref: COHD:140062 {source="MONDO:equivalentTo"}
xref: DOID:5083 {source="MONDO:equivalentTo"}
xref: ICD9:244.2 {source="MONDO:equivalentTo", source="DOID:5083", source="i2s"}
xref: SCTID:190279008 {source="MONDO:equivalentTo", source="DOID:5083", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154159 {source="MONDO:equivalentTo", source="DOID:5083"}
is_a: MONDO:0005420 {source="DOID:5083", source="linkedlifedata/inferred"} ! hypothyroidism
property_value: exactMatch DOID:5083
property_value: exactMatch http://identifiers.org/snomedct/190279008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154159

[Term]
id: MONDO:0003272
name: mixed epithelial stromal tumor
synonym: "mixed epithelial stromal tumour" RELATED [DOID:5088]
xref: DOID:5088 {source="MONDO:equivalentTo"}
is_a: MONDO:0021043 ! mixed neoplasm
relationship: excluded_subClassOf MONDO:0005853 {source="DOID:5088"} ! malignant mixed neoplasm
property_value: exactMatch DOID:5088

[Term]
id: MONDO:0003273
name: sternum cancer
def: "A malignant neoplasm involving the sternum" [MONDO:DesignPattern]
synonym: "cancer of sternum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sternum" EXACT [MONDO:patterns/cancer, NCIT:C8408]
synonym: "malignant neoplasm of the sternum" EXACT [NCIT:C8408]
synonym: "malignant sternal neoplasm" EXACT [DOID:5090]
synonym: "malignant sternal tumor" EXACT [DOID:5090, NCIT:C8408]
synonym: "malignant sternum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of sternum" EXACT [NCIT:C8408]
synonym: "malignant tumor of the sternum" EXACT [NCIT:C8408]
synonym: "neoplasm of sternum" EXACT [DOID:5090]
synonym: "neoplasm of sternum" RELATED [DOID:5090]
synonym: "sternal tumor" EXACT EXCLUDE [DOID:5090]
synonym: "sternum cancer" EXACT [MONDO:patterns/location]
xref: DOID:5090 {source="MONDO:equivalentTo"}
xref: NCIT:C8408 {source="MONDO:kboom-pr-0.96/0.76/2.29", source="DOID:5090", source="MONDO:equivalentTo"}
xref: UMLS:C1382025 {source="MEDGEN:kboom-pr98-c99", source="DOID:5090", source="MONDO:equivalentTo"}
is_a: MONDO:0002129 {source="DOID:5090", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0003274 ! thoracic cancer
is_a: MONDO:0021578 {source="MONDO:Redundant", source="NCIT:C8408"} ! sternal neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346672
property_value: exactMatch DOID:5090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1382025
property_value: exactMatch NCIT:C8408

[Term]
id: MONDO:0003274
name: thoracic cancer
def: "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." [NCIT:C3576]
synonym: "cancer of thoracic segment of trunk" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the thorax" EXACT [NCIT:C3576]
synonym: "malignant neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of thorax" EXACT [NCIT:C3576]
synonym: "malignant thoracic neoplasm" EXACT [NCIT:C3576]
synonym: "malignant thoracic segment of trunk neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant thoracic tumor" EXACT [NCIT:C3576]
synonym: "malignant tumor of the thorax" EXACT [NCIT:C3576]
synonym: "malignant tumor of thorax" EXACT [NCIT:C3576]
synonym: "thoracic segment of trunk cancer" EXACT [MONDO:patterns/location]
synonym: "thoracic tumor" EXACT [DOID:5093, NCIT:C3406]
synonym: "thorax cancer" EXACT [DOID:5093]
synonym: "thorax neoplasm" BROAD [CSP2005:2005-5041, DOID:5093]
synonym: "tumor of thorax" BROAD [DOID:5093]
xref: DOID:5093 {source="MONDO:equivalentTo"}
xref: ICD10:C76.1 {source="DOID:5093"}
xref: ICD9:195.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:5093"}
xref: NCIT:C3576 {source="MONDO:equivalentTo", source="DOID:5093"}
xref: SCTID:188361007 {source="MONDO:equivalentTo", source="DOID:5093"}
xref: UMLS:C0153661 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3576", source="DOID:5093"}
is_a: MONDO:0004992 {source="DOID:5093", source="DOID:5093/inferred", source="MONDO:Redundant", source="MONDOLEX:0003274", source="linkedlifedata"} ! cancer
is_a: MONDO:0021350 {source="MONDO:Redundant", source="MONDOLEX:0003274", source="NCIT:C3576", source="linkedlifedata"} ! neoplasm of thorax
property_value: closeMatch http://identifiers.org/mesh/D013899
property_value: closeMatch http://identifiers.org/snomedct/188365003
property_value: exactMatch DOID:5093
property_value: exactMatch http://identifiers.org/snomedct/188361007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153661
property_value: exactMatch NCIT:C3576

[Term]
id: MONDO:0003275
name: middle ear cancer
def: "A malignant neoplasm involving the middle ear" [MONDO:DesignPattern]
synonym: "cancer of middle ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant middle Ear tumor" EXACT [NCIT:C4765]
synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the middle Ear" EXACT [NCIT:C4765]
synonym: "malignant tumor of middle Ear" EXACT [NCIT:C4765]
synonym: "malignant tumor of the middle Ear" EXACT [NCIT:C4765]
synonym: "middle ear cancer" EXACT [MONDO:patterns/location]
synonym: "neoplasm of middle ear" EXACT EXCLUDE [DOID:5099]
synonym: "tumor of the middle ear" BROAD [DOID:5099, NCIT:C4412]
xref: DOID:5099 {source="MONDO:equivalentTo"}
xref: NCIT:C4765 {source="MONDO:equivalentTo"}
xref: SCTID:363359008 {source="MONDO:equivalentTo"}
is_a: MONDO:0003277 {source="MONDO:Redundant", source="MONDOLEX:0003275", source="NCIT:C4765", source="linkedlifedata"} ! malignant ear neoplasm
is_a: MONDO:0004532 ! auditory system cancer
is_a: MONDO:0021366 {source="MONDO:Redundant", source="MONDOLEX:0003275", source="NCIT:C4765", source="linkedlifedata"} ! neoplasm of middle ear
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345617
property_value: exactMatch DOID:5099
property_value: exactMatch http://identifiers.org/snomedct/363359008
property_value: exactMatch NCIT:C4765

[Term]
id: MONDO:0003276
name: middle ear disease
def: "A disease involving the middle ear." [MONDO:DesignPattern]
synonym: "disease of middle ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of middle ear" EXACT []
synonym: "disorder of middle ear" EXACT [MONDO:patterns/location_top]
synonym: "disorder of middle ear" RELATED [MONDO:patterns/location_top]
synonym: "middle ear disease" EXACT [MONDO:patterns/location]
synonym: "middle ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "middle Ear disorder" EXACT [NCIT:C27065]
xref: COHD:374364 {source="MONDO:equivalentTo"}
xref: DOID:5100 {source="MONDO:equivalentTo"}
xref: NCIT:C27065 {source="MONDO:equivalentTo", source="DOID:5100"}
xref: SCTID:68996008 {source="MONDO:equivalentTo", source="DOID:5100"}
xref: UMLS:C0271428 {source="NCIT:C27065", source="MONDO:equivalentTo", source="DOID:5100"}
is_a: MONDO:0002409 {source="DOID:5100", source="linkedlifedata/inferred"} ! auditory system disease
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27065", source="linkedlifedata"} ! disease of ear
property_value: closeMatch http://identifiers.org/snomedct/155260002
property_value: closeMatch http://identifiers.org/snomedct/194327004
property_value: closeMatch http://identifiers.org/snomedct/232250008
property_value: closeMatch http://identifiers.org/snomedct/300195001
property_value: exactMatch DOID:5100
property_value: exactMatch http://identifiers.org/snomedct/68996008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271428
property_value: exactMatch NCIT:C27065

[Term]
id: MONDO:0003277
name: malignant ear neoplasm
def: "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." [NCIT:P378]
synonym: "auricular cancer" RELATED [DOID:5101]
synonym: "cancer of ear" EXACT [MONDO:patterns/cancer]
synonym: "ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant Ear neoplasm" EXACT [NCIT:C9337]
synonym: "malignant ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Ear tumor" EXACT [NCIT:C9337]
synonym: "malignant neoplasm of Ear" EXACT [NCIT:C9337]
synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Ear" EXACT [NCIT:C9337]
synonym: "malignant tumor of Ear" EXACT [NCIT:C9337]
synonym: "malignant tumor of ear" EXACT [DOID:5101, NCIT:C9337]
synonym: "malignant tumor of the Ear" EXACT [NCIT:C9337]
xref: DOID:5101 {source="MONDO:equivalentTo"}
xref: MESH:D004428 {source="DOID:5101", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9337 {source="MONDO:equivalentTo"}
xref: SCTID:443648003 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0751094 {source="DOID:5101", source="MONDO:equivalentTo", source="NCIT:C9337"}
is_a: MONDO:0000649 ! sensory system cancer
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C9337"} ! head and neck cancer
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C9337"} ! ear neoplasm
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:5101"} ! auditory system cancer
property_value: exactMatch DOID:5101
property_value: exactMatch http://identifiers.org/mesh/D004428
property_value: exactMatch http://identifiers.org/snomedct/443648003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751094
property_value: exactMatch NCIT:C9337

[Term]
id: MONDO:0003278
name: inner ear cancer
def: "A malignant neoplasm involving the internal ear." [MONDO:DesignPattern]
synonym: "cancer of internal ear" EXACT [MONDO:patterns/cancer]
synonym: "internal ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant internal ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of internal ear" EXACT [MONDO:patterns/cancer]
xref: DOID:5102 {source="MONDO:equivalentTo"}
is_a: MONDO:0003277 ! malignant ear neoplasm
is_a: MONDO:0004532 ! auditory system cancer
is_a: MONDO:0024320 ! inner ear neoplasm
property_value: exactMatch DOID:5102

[Term]
id: MONDO:0003279
name: testicular infarct
def: "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." [NCIT:P378]
synonym: "infarction of testis" EXACT [DOID:5104]
synonym: "testicular infarction" EXACT [DOID:5104, NCIT:C27617]
xref: DOID:5104 {source="MONDO:equivalentTo"}
xref: NCIT:C27617 {source="DOID:5104", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:33793000 {source="DOID:5104", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0392041 {source="DOID:5104", source="MONDO:equivalentTo", source="NCIT:C27617"}
is_a: MONDO:0002329 {source="DOID:5104", source="NCIT:C27617/inferred", source="linkedlifedata"} ! testicular disease
property_value: exactMatch DOID:5104
property_value: exactMatch http://identifiers.org/snomedct/33793000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392041
property_value: exactMatch NCIT:C27617

[Term]
id: MONDO:0003280
name: swayback
def: "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" [MESH:D013540]
synonym: "swayback of sheep" EXACT [DOID:5112]
xref: DOID:5112 {source="MONDO:equivalentTo"}
xref: MESH:D013540 {source="DOID:5112", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:61960001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
is_a: MONDO:0006873 {source="DOID:5112", source="MESH:D013540"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/snomedct/78714004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038981
property_value: exactMatch DOID:5112
property_value: exactMatch http://identifiers.org/mesh/D013540
property_value: exactMatch http://identifiers.org/snomedct/61960001

[Term]
id: MONDO:0003281
name: ovarian cystic teratoma
def: "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." [NCIT:P378]
synonym: "ovary cystic teratoma" EXACT [MONDO:patterns/location]
xref: DOID:5118 {source="MONDO:equivalentTo"}
xref: NCIT:C7283 {source="MONDO:equivalentTo", source="DOID:5118"}
xref: UMLS:C1335155 {source="MONDO:equivalentTo", source="DOID:5118", source="NCIT:C7283"}
is_a: MONDO:0002379 {source="DOID:5118", source="MONDO:Redundant", source="MONDOLEX:0003281", source="NCIT:C7283"} ! cystic teratoma
is_a: MONDO:0011366 ! ovarian germ cell tumor
relationship: excluded_subClassOf MONDO:0003820 {source="DOID:5118"} ! mature ovarian teratoma
property_value: exactMatch DOID:5118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335155
property_value: exactMatch NCIT:C7283

[Term]
id: MONDO:0003282
name: ovarian cyst (disease)
synonym: "corpus luteum cyst" RELATED [MESH:D010048]
synonym: "corpus luteum cysts" RELATED [MESH:D010048]
synonym: "cyst, corpus luteum" RELATED [MESH:D010048]
synonym: "cyst, ovarian" RELATED [MESH:D010048]
synonym: "cysts, corpus luteum" RELATED [MESH:D010048]
synonym: "cysts, ovarian" RELATED [MESH:D010048]
synonym: "ovarian cyst" EXACT [MESH:D010048, MONDO:ambiguous]
xref: DOID:5119 {source="MONDO:equivalentTo"}
xref: HP:0000138 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N83.2 {source="DOID:5119"}
xref: ICD9:620.2 {source="MONDO:relatedTo", source="DOID:5119", source="i2s"}
xref: MESH:D010048 {source="MONDO:equivalentTo"}
xref: SCTID:79883001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
is_a: MONDO:0005558 {source="DOID:5119", source="MESH:D010048", source="linkedlifedata"} ! ovarian disease
property_value: closeMatch http://identifiers.org/snomedct/198586000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029513
property_value: exactMatch DOID:5119
property_value: exactMatch http://identifiers.org/mesh/D010048
property_value: exactMatch http://identifiers.org/snomedct/79883001

[Term]
id: MONDO:0003283
name: epididymal neoplasm
def: "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." [NCIT:C39958]
synonym: "epididymal neoplasm" EXACT [NCIT:C39958]
synonym: "epididymis neoplasm" EXACT []
synonym: "epididymis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "epididymis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epididymis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epididymus" EXACT []
synonym: "tumor of epididymis" EXACT [MONDO:patterns/neoplasm]
xref: DOID:512 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C39958 {source="DOID:512", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126902008 {source="DOID:512", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346239 {source="DOID:512", source="MONDO:equivalentTo", source="NCIT:C39958"}
is_a: MONDO:0024582 ! male reproductive system neoplasm
property_value: exactMatch DOID:512
property_value: exactMatch http://identifiers.org/snomedct/126902008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346239
property_value: exactMatch NCIT:C39958

[Term]
id: MONDO:0003284
name: mediastinum leiomyoma
def: "A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of mediastinum" EXACT [DOID:5123, NCIT:C6598]
synonym: "leiomyoma of the mediastinum" EXACT [NCIT:C6598]
synonym: "mediastinal leiomyoma" EXACT [NCIT:C6598]
synonym: "mediastinum leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5123 {source="MONDO:equivalentTo"}
xref: NCIT:C6598 {source="DOID:5123", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334659 {source="DOID:5123", source="MONDO:equivalentTo", source="NCIT:C6598"}
is_a: MONDO:0001572 {source="DOID:5123", source="MONDO:Redundant", source="NCIT:C6598"} ! leiomyoma
is_a: MONDO:0021521 {source="MONDO:Redundant", source="NCIT:C6598/inferred"} ! benign neoplasm of mediastinum
property_value: exactMatch DOID:5123
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334659
property_value: exactMatch NCIT:C6598

[Term]
id: MONDO:0003285
name: fallopian tube leiomyoma
def: "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40127]
synonym: "fallopian tube leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40127]
synonym: "leiomyoma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:5124 {source="MONDO:equivalentTo"}
xref: NCIT:C40127 {source="DOID:5124", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1517115 {source="DOID:5124", source="NCIT:C40127", source="MONDO:equivalentTo"}
is_a: MONDO:0000645 {source="DOID:5124", source="MONDO:Redundant", source="NCIT:C40127"} ! fallopian tube benign neoplasm
is_a: MONDO:0001572 {source="DOID:5124", source="MONDO:Redundant", source="NCIT:C40127"} ! leiomyoma
property_value: exactMatch DOID:5124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517115
property_value: exactMatch NCIT:C40127

[Term]
id: MONDO:0003286
name: extrahepatic bile duct leiomyoma
def: "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5855]
synonym: "extrahepatic bile duct leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5855]
synonym: "leiomyoma of extrahepatic bile duct" EXACT [NCIT:C5855]
synonym: "leiomyoma of the extrahepatic bile duct" EXACT [DOID:5125, NCIT:C5855]
xref: DOID:5125 {source="MONDO:equivalentTo"}
xref: NCIT:C5855 {source="DOID:5125", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333507 {source="DOID:5125", source="MONDO:equivalentTo", source="NCIT:C5855"}
is_a: MONDO:0000385 {source="DOID:5125", source="DOID:5125/inferred", source="MONDO:Redundant"} ! benign digestive system neoplasm
is_a: MONDO:0004723 ! liver leiomyoma
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5855/inferred"} ! extrahepatic bile duct neoplasm
property_value: exactMatch DOID:5125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333507
property_value: exactMatch NCIT:C5855

[Term]
id: MONDO:0003287
name: central nervous system leiomyoma
def: "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity." [NCIT:C6998]
synonym: "central nervous system leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6998]
synonym: "leiomyoma of central nervous system" EXACT [NCIT:C6998]
synonym: "leiomyoma of CNS" EXACT [DOID:5126, NCIT:C6998]
synonym: "leiomyoma of the central nervous system" EXACT [NCIT:C6998]
synonym: "leiomyoma of the CNS" EXACT [NCIT:C6998]
xref: DOID:5126 {source="MONDO:equivalentTo"}
xref: NCIT:C6998 {source="DOID:5126", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334382 {source="DOID:5126", source="MONDO:equivalentTo", source="NCIT:C6998"}
is_a: MONDO:0000628 {source="DOID:5126", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0001572 {source="DOID:5126", source="MONDO:Redundant", source="NCIT:C6998"} ! leiomyoma
property_value: exactMatch DOID:5126
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334382
property_value: exactMatch NCIT:C6998

[Term]
id: MONDO:0003288
name: bizarre leiomyoma
def: "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm." [NCIT:C4257]
synonym: "atypical leiomyoma" EXACT [DOID:5127, NCIT:C4257]
synonym: "bizarre leiomyoma" EXACT [NCIT:C4257]
synonym: "pleomorphic leiomyoma" EXACT [DOID:5127, NCIT:C4257, NCIT:C6513]
synonym: "Symplastic leiomyoma" EXACT [DOID:5127]
xref: DOID:5127 {source="MONDO:equivalentTo"}
xref: ICDO:8893/0 {source="NCIT:C4257"}
xref: NCIT:C4257 {source="DOID:5127", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334478 {source="DOID:5127", source="MONDO:equivalentTo", source="NCIT:C4257"}
is_a: MONDO:0001572 {source="DOID:5127", source="NCIT:C4257"} ! leiomyoma
property_value: closeMatch http://identifiers.org/snomedct/48897006
property_value: exactMatch DOID:5127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334478
property_value: exactMatch NCIT:C4257

[Term]
id: MONDO:0003289
name: deep leiomyoma
def: "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6512]
synonym: "deep leiomyoma" EXACT [NCIT:C6512]
xref: DOID:5128 {source="MONDO:equivalentTo"}
xref: NCIT:C6512 {source="DOID:5128", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333266 {source="DOID:5128", source="MONDO:equivalentTo", source="NCIT:C6512"}
is_a: MONDO:0001572 {source="DOID:5128", source="NCIT:C6512"} ! leiomyoma
property_value: exactMatch DOID:5128
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333266
property_value: exactMatch NCIT:C6512

[Term]
id: MONDO:0003290
name: simple partial epilepsy
xref: DOID:5129 {source="MONDO:equivalentTo"}
xref: ICD9:345.51 {source="DOID:5129"}
is_a: MONDO:0005384 {source="DOID:5129", source="MONDOLEX:0003290"} ! partial epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154712
property_value: exactMatch DOID:5129

[Term]
id: MONDO:0003291
name: leiomyoma cutis
def: "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "cutaneous (skin) leiomyoma" EXACT [NCIT:C4482]
synonym: "cutaneous leiomyoma" EXACT [NCIT:C4482]
synonym: "leiomyoma cutis" EXACT [NCIT:C4482]
synonym: "leiomyoma of skin" EXACT [NCIT:C4482]
synonym: "leiomyoma of the skin" EXACT [DOID:5132, NCIT:C4482]
synonym: "leiomyoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin leiomyoma" EXACT [NCIT:C4482]
synonym: "zone of skin leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5132 {source="MONDO:equivalentTo"}
xref: NCIT:C4482 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5132", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254767008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5132"}
xref: UMLS:C0346064 {source="NCIT:C4482", source="MONDO:equivalentTo", source="DOID:5132"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C4482"} ! leiomyoma
is_a: MONDO:0002300 {source="DOID:5132", source="NCIT:C4482/inferred"} ! dermis tumor
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4482/inferred"} ! benign neoplasm of skin
property_value: exactMatch DOID:5132
property_value: exactMatch http://identifiers.org/snomedct/254767008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346064
property_value: exactMatch NCIT:C4482

[Term]
id: MONDO:0003292
name: anus leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "anal leiomyoma" EXACT [NCIT:C5608]
synonym: "anus leiomyoma" EXACT [MONDO:patterns/location]
synonym: "leiomyoma of anus" EXACT [DOID:5134, NCIT:C5608]
synonym: "leiomyoma of the anus" EXACT [NCIT:C5608]
xref: DOID:5134 {source="MONDO:equivalentTo"}
xref: NCIT:C5608 {source="DOID:5134", source="MONDO:kboom-pr-1.00/0.91/29.38", source="MONDO:equivalentTo"}
xref: UMLS:C1332266 {source="NCIT:C5608", source="DOID:5134", source="MONDO:equivalentTo"}
is_a: MONDO:0004125 ! rectum leiomyoma
is_a: MONDO:0021469 {source="MONDO:Redundant", source="NCIT:C5608"} ! benign neoplasm of anus
property_value: exactMatch DOID:5134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332266
property_value: exactMatch NCIT:C5608

[Term]
id: MONDO:0003293
name: lung leiomyoma
def: "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5660]
synonym: "leiomyoma of lung" EXACT [NCIT:C5660]
synonym: "leiomyoma of the lung" EXACT [NCIT:C5660]
synonym: "lung leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5660]
synonym: "pulmonary leiomyoma" EXACT [DOID:5136, NCIT:C5660]
xref: DOID:5136 {source="MONDO:equivalentTo"}
xref: NCIT:C5660 {source="DOID:5136", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:707374005 {source="DOID:5136", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C1334447 {source="NCIT:C5660", source="DOID:5136", source="MONDO:equivalentTo"}
is_a: MONDO:0001572 {source="DOID:5136", source="MONDO:Redundant", source="NCIT:C5660", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0002732 {source="DOID:5136", source="MONDO:Redundant", source="NCIT:C5660"} ! lung benign neoplasm
property_value: exactMatch DOID:5136
property_value: exactMatch http://identifiers.org/snomedct/707374005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334447
property_value: exactMatch NCIT:C5660

[Term]
id: MONDO:0003294
name: pericardium leiomyoma
def: "A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of pericardium" EXACT [DOID:5137, NCIT:C6743]
synonym: "leiomyoma of the pericardium" EXACT [NCIT:C6743]
synonym: "pericardial leiomyoma" EXACT [NCIT:C6743]
synonym: "pericardium leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5137 {source="MONDO:equivalentTo"}
xref: NCIT:C6743 {source="DOID:5137", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335380 {source="DOID:5137", source="MONDO:equivalentTo", source="NCIT:C6743"}
is_a: MONDO:0001572 {source="DOID:5137", source="MONDO:Redundant", source="NCIT:C6743"} ! leiomyoma
is_a: MONDO:0021514 {source="MONDO:Redundant", source="NCIT:C6743"} ! benign neoplasm of pericardium
property_value: exactMatch DOID:5137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335380
property_value: exactMatch NCIT:C6743

[Term]
id: MONDO:0003295
name: leiomyomatosis
def: "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." [NCIT:C3748]
synonym: "leiomyomatosis" EXACT [NCIT:C3748]
synonym: "leiomyomatosis, no ICD-O subtype" EXACT [DOID:5138]
synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:5138]
xref: DOID:5138 {source="MONDO:equivalentTo"}
xref: ICDO:8890/1 {source="NCIT:C3748"}
xref: MESH:D018231 {source="DOID:5138", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3748 {source="DOID:5138", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206654 {source="NCIT:C3748", source="DOID:5138", source="MONDO:equivalentTo"}
is_a: MONDO:0001572 {source="DOID:5138", source="MESH:D018231", source="NCIT:C3748"} ! leiomyoma
property_value: closeMatch http://identifiers.org/snomedct/189789002
property_value: closeMatch http://identifiers.org/snomedct/75210008
property_value: exactMatch DOID:5138
property_value: exactMatch http://identifiers.org/mesh/D018231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206654
property_value: exactMatch NCIT:C3748

[Term]
id: MONDO:0003296
name: cellular leiomyoma
def: "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." [NCIT:C4256]
synonym: "cellular leiomyoma" EXACT [NCIT:C4256]
synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [DOID:5139]
xref: DOID:5139 {source="MONDO:equivalentTo"}
xref: ICDO:8892/0 {source="NCIT:C4256"}
xref: NCIT:C4256 {source="DOID:5139", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334477 {source="DOID:5139", source="MONDO:equivalentTo", source="NCIT:C4256"}
is_a: MONDO:0001572 {source="DOID:5139", source="NCIT:C4256"} ! leiomyoma
property_value: closeMatch http://identifiers.org/snomedct/90955001
property_value: exactMatch DOID:5139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334477
property_value: exactMatch NCIT:C4256

[Term]
id: MONDO:0003297
name: gallbladder leiomyoma
def: "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5747]
synonym: "gall bladder leiomyoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder leiomyoma" EXACT [NCIT:C5747]
synonym: "leiomyoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "leiomyoma of gallbladder" EXACT [NCIT:C5747]
synonym: "leiomyoma of the gallbladder" EXACT [DOID:5140, NCIT:C5747]
xref: DOID:5140 {source="MONDO:equivalentTo"}
xref: NCIT:C5747 {source="MONDO:equivalentTo", source="DOID:5140", source="exact-label-match"}
xref: UMLS:C1333745 {source="MONDO:equivalentTo", source="DOID:5140", source="NCIT:C5747"}
is_a: MONDO:0001572 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747"} ! leiomyoma
is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! benign neoplasm of gallbladder
property_value: exactMatch DOID:5140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333745
property_value: exactMatch NCIT:C5747

[Term]
id: MONDO:0003298
name: vulvar leiomyoma
def: "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40326]
synonym: "leiomyoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar leiomyoma" EXACT [NCIT:C40326]
xref: DOID:5142 {source="MONDO:equivalentTo"}
xref: NCIT:C40326 {source="MONDO:equivalentTo", source="DOID:5142", source="exact-label-match"}
xref: UMLS:C1520087 {source="NCIT:C40326", source="MONDO:equivalentTo", source="DOID:5142"}
is_a: MONDO:0000643 {source="DOID:5142", source="MONDO:Redundant"} ! vulvar benign neoplasm
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C40326"} ! leiomyoma
property_value: exactMatch DOID:5142
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520087
property_value: exactMatch NCIT:C40326

[Term]
id: MONDO:0003299
name: colorectal leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5677]
synonym: "colorectal leiomyoma" EXACT [NCIT:C5677]
synonym: "colorectum leiomyoma" EXACT [MONDO:patterns/location]
synonym: "large bowel leiomyoma" EXACT [NCIT:C5677]
synonym: "large intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5677]
synonym: "leiomyoma of large bowel" EXACT [NCIT:C5677]
synonym: "leiomyoma of large intestine" EXACT [DOID:5143, NCIT:C5677]
synonym: "leiomyoma of the large bowel" EXACT [NCIT:C5677]
synonym: "leiomyoma of the large intestine" EXACT [NCIT:C5677]
xref: DOID:5143 {source="MONDO:equivalentTo"}
xref: NCIT:C5677 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5143"}
xref: UMLS:C1333113 {source="MONDO:equivalentTo", source="NCIT:C5677", source="DOID:5143"}
is_a: MONDO:0001572 {source="DOID:5143", source="MONDO:Redundant", source="NCIT:C5677"} ! leiomyoma
is_a: MONDO:0005335 {source="NCIT:C5677/inferred", source="OWLReasoner:2017"} ! colorectal neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C5677"} ! benign neoplasm of large intestine
property_value: exactMatch DOID:5143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333113
property_value: exactMatch NCIT:C5677

[Term]
id: MONDO:0003300
name: appendix leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5514]
synonym: "appendiceal leiomyoma" EXACT [DOID:5146, NCIT:C5514]
synonym: "appendix leiomyoma" EXACT [NCIT:C5514]
synonym: "leiomyoma of appendix" EXACT [NCIT:C5514]
synonym: "leiomyoma of the appendix" EXACT [NCIT:C5514]
synonym: "leiomyoma of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "vermiform appendix leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5146 {source="MONDO:equivalentTo"}
xref: NCIT:C5514 {source="DOID:5146", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332327 {source="DOID:5146", source="MONDO:equivalentTo", source="NCIT:C5514"}
is_a: MONDO:0001092 ! colon leiomyoma
is_a: MONDO:0021465 {source="MONDO:Redundant", source="NCIT:C5514"} ! benign neoplasm of appendix
property_value: exactMatch DOID:5146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332327
property_value: exactMatch NCIT:C5514

[Term]
id: MONDO:0003301
name: dartoic leiomyoma
def: "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." [NCIT:P378]
synonym: "dartoic leiomyoma" EXACT [DOID:5147, NCIT:C4483]
synonym: "dartoic myoma" EXACT [DOID:5147]
synonym: "dartos muscle leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leiomyoma of dartos muscle" EXACT [MONDO:design_pattern]
xref: DOID:5147 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4483 {source="DOID:5147", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:254770007 {source="DOID:5147", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0346066 {source="NCIT:C4483", source="DOID:5147", source="MONDO:equivalentTo"}
is_a: MONDO:0003291 {source="NCIT:C4483", source="linkedlifedata"} ! leiomyoma cutis
is_a: MONDO:0021581 ! connective tissue neoplasm
relationship: excluded_subClassOf MONDO:0000383 {source="DOID:5147"} ! benign reproductive system neoplasm
property_value: exactMatch DOID:5147
property_value: exactMatch http://identifiers.org/snomedct/254770007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346066
property_value: exactMatch NCIT:C4483

[Term]
id: MONDO:0003302
name: epithelioid neurofibroma
def: "A rare neurofibroma with epithelioid morphology." [NCIT:C6558]
synonym: "epithelioid neurofibroma" EXACT [DOID:5149, NCIT:C6558]
xref: DOID:5149 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6558 {source="DOID:5149", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:404032008 {source="DOID:5149", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275264 {source="DOID:5149", source="MONDO:equivalentTo", source="NCIT:C6558"}
is_a: MONDO:0016755 {source="DOID:5149", source="NCIT:C6558", source="linkedlifedata"} ! neurofibroma
property_value: exactMatch DOID:5149
property_value: exactMatch http://identifiers.org/snomedct/404032008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275264
property_value: exactMatch NCIT:C6558

[Term]
id: MONDO:0003303
name: neurofibroma of gallbladder
def: "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." [NCIT:P378]
synonym: "gall bladder neurofibroma" EXACT [MONDO:patterns/location]
synonym: "gallbladder neurofibroma" EXACT [NCIT:C5746]
synonym: "neurofibroma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "neurofibroma of gallbladder" EXACT [NCIT:C5746]
synonym: "neurofibroma of the gallbladder" EXACT [DOID:5150, NCIT:C5746]
xref: DOID:5150 {source="MONDO:equivalentTo"}
xref: NCIT:C5746 {source="MONDO:equivalentTo", source="DOID:5150", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333751 {source="MONDO:equivalentTo", source="DOID:5150", source="NCIT:C5746"}
is_a: MONDO:0005411 {source="DOID:5150", source="MONDO:Entailed"} ! gallbladder cancer
is_a: MONDO:0016755 {source="DOID:5150", source="MONDO:Redundant", source="NCIT:C5746"} ! neurofibroma
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:5150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333751
property_value: exactMatch NCIT:C5746

[Term]
id: MONDO:0003304
name: plexiform neurofibroma (disease)
def: "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" [NCIT:P378]
synonym: "plexiform neurofibroma" EXACT [MONDO:ambiguous]
xref: DOID:5151 {source="MONDO:equivalentTo"}
xref: EFO:0000658 {source="MONDO:equivalentTo"}
xref: HP:0009732 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9550/0 {source="NCIT:C3797"}
xref: MESH:D018318 {source="MONDO:equivalentTo", source="DOID:5151", source="MONDO:ontobio"}
xref: NCIT:C3797 {source="MONDO:equivalentTo", source="DOID:5151", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:403818001 {source="MONDO:equivalentTo", source="DOID:5151", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206728 {source="MONDO:equivalentTo", source="DOID:5151", source="NCIT:C3797"}
is_a: MONDO:0016755 {source="DOID:5151", source="EFO:0000658", source="MESH:D018318", source="NCIT:C3797"} ! neurofibroma
property_value: closeMatch http://identifiers.org/snomedct/41252002
property_value: exactMatch DOID:5151
property_value: exactMatch http://identifiers.org/mesh/D018318
property_value: exactMatch http://identifiers.org/snomedct/403818001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206728
property_value: exactMatch NCIT:C3797

[Term]
id: MONDO:0003305
name: cellular neurofibroma
def: "A neurofibroma characterized by the presence of areas with increased cellularity." [NCIT:C41427]
synonym: "cellular neurofibroma" EXACT [NCIT:C41427]
xref: DOID:5152 {source="MONDO:equivalentTo"}
xref: NCIT:C41427 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5152"}
xref: UMLS:C1516371 {source="NCIT:C41427", source="MONDO:equivalentTo", source="DOID:5152"}
is_a: MONDO:0016755 {source="DOID:5152", source="NCIT:C41427"} ! neurofibroma
property_value: exactMatch DOID:5152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516371
property_value: exactMatch NCIT:C41427

[Term]
id: MONDO:0003306
name: atypical neurofibroma
def: "A neurofibroma characterized by the presence of cellular pleomorphism." [NCIT:C41426]
synonym: "atypical neurofibroma" EXACT [NCIT:C41426]
xref: DOID:5153 {source="MONDO:equivalentTo"}
xref: NCIT:C41426 {source="MONDO:equivalentTo", source="DOID:5153", source="exact-label-match"}
xref: UMLS:C1510961 {source="NCIT:C41426", source="MONDO:equivalentTo", source="DOID:5153"}
is_a: MONDO:0016755 {source="DOID:5153", source="NCIT:C41426"} ! neurofibroma
property_value: exactMatch DOID:5153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510961
property_value: exactMatch NCIT:C41426

[Term]
id: MONDO:0003307
name: multiple mucosal neuroma
synonym: "multiple mucosal neuromas" RELATED [NCIT:C6559]
xref: DOID:5155 {source="MONDO:equivalentTo"}
xref: NCIT:C6559 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:5155"}
xref: UMLS:C1334828 {source="MONDO:equivalentTo", source="NCIT:C6559", source="DOID:5155"}
is_a: MONDO:0002173 {source="DOID:5155", source="NCIT:C6559"} ! neuroma
property_value: exactMatch DOID:5155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334828
property_value: exactMatch NCIT:C6559

[Term]
id: MONDO:0003308
name: pleural mesothelioma
def: "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." [NCIT:C9351]
synonym: "benign pleural mesothelioma" RELATED [DOID:5157]
synonym: "mesothelioma of pleura" EXACT [DOID:5157, NCIT:C9351]
synonym: "mesothelioma of the pleura" EXACT [NCIT:C9351]
synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural mesothelioma" EXACT [MONDO:ambiguous, NCIT:C9351]
synonym: "pleural mesothelioma (disease)" EXACT [MONDO:0006379]
synonym: "pleural mesothelioma (disease), benign" EXACT [MONDO:patterns/benign]
xref: DOID:5157 {source="MONDO:equivalentTo"}
xref: EFO:1000485 {source="MONDO:equivalentTo"}
xref: HP:0100002 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C9351 {source="DOID:5157", source="DesignPattern", source="EFO:1000485", source="MONDO:equivalentTo"}
xref: ONCOTREE:PLMESO {source="MONDO:equivalentTo"}
xref: SCTID:109372009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005065 {source="EFO:1000485", source="MONDO:Redundant", source="NCIT:C9351"} ! mesothelioma
is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C9351", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377913
property_value: exactMatch DOID:5157
property_value: exactMatch http://identifiers.org/snomedct/109372009
property_value: exactMatch NCIT:C9351

[Term]
id: MONDO:0003309
name: obsolete pleural cancer
is_obsolete: true
replaced_by: MONDO:0006294

[Term]
id: MONDO:0003310
name: Monckeberg arteriosclerosis
def: "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature." [NCIT:C35770]
synonym: "Mönckeberg arteriosclerosis" EXACT [NCIT:C35770]
xref: DOID:5161 {source="MONDO:equivalentTo"}
xref: NCIT:C35770 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0887866 {source="NCIT:C35770", source="MONDO:equivalentTo"}
is_a: MONDO:0002277 {source="DOID:5161", source="NCIT:C35770"} ! arteriosclerosis disorder
property_value: exactMatch DOID:5161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0887866
property_value: exactMatch NCIT:C35770

[Term]
id: MONDO:0003311
name: endometrial stromal tumor
def: "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." [MESH:D036821]
synonym: "endometrial stroma neoplasm" EXACT []
synonym: "endometrial stroma tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endometrial stromal neoplasm" EXACT [DOID:5166, NCIT:C8384]
synonym: "endometrial stromal tumor" EXACT []
synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [DOID:5166]
synonym: "neoplasm of endometrial stroma" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endometrial stroma" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5166 {source="MONDO:equivalentTo"}
xref: EFO:1000920 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D036821 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5166"}
xref: SCTID:446887007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:5166"}
xref: UMLS:C0334695 {source="MONDO:equivalentTo", source="DOID:5166"}
is_a: MONDO:0021251 {source="MONDO:Redundant", source="linkedlifedata"} ! endometrium neoplasm
relationship: excluded_subClassOf MONDO:0011962 {source="DOID:5166"} ! endometrial cancer
property_value: closeMatch http://identifiers.org/snomedct/68738004
property_value: exactMatch DOID:5166
property_value: exactMatch http://identifiers.org/mesh/D036821
property_value: exactMatch http://identifiers.org/snomedct/446887007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334695

[Term]
id: MONDO:0003312
name: ovarian endometrioid stromal and related neoplasms
def: "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." [NCIT:C40065]
synonym: "endometrioid stromal and related neoplasms of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian endometrioid stromal and related neoplasms" EXACT [NCIT:C40065]
synonym: "ovarian endometrioid stromal sarcoma" RELATED [DOID:5169]
synonym: "ovary endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5169 {source="MONDO:equivalentTo"}
xref: NCIT:C40065 {source="DOID:5169", source="MONDO:equivalentTo"}
xref: UMLS:C4288544 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021068 ! ovarian neoplasm
is_a: MONDO:0037742 {source="MONDO:Redundant", source="NCIT:C40065"} ! endometrioid stromal and related neoplasms
relationship: excluded_subClassOf MONDO:0002225 {source="DOID:5169"} ! ovarian sarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518714
property_value: exactMatch DOID:5169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288544
property_value: exactMatch NCIT:C40065

[Term]
id: MONDO:0003313
name: endometrioid stromal sarcoma of the vagina
def: "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma." [NCIT:C40270]
synonym: "endometrioid stromal sarcoma of the vagina" EXACT [NCIT:C40270]
synonym: "endometrioid stromal sarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "vagina endometrioid stromal sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal endometrial stromal sarcoma" RELATED [DOID:5170]
xref: DOID:5170 {source="MONDO:equivalentTo"}
xref: NCIT:C40270 {source="MONDO:equivalentTo", source="DOID:5170"}
xref: UMLS:C3642329 {source="NCIT:C40270", source="MONDO:equivalentTo", source="DOID:5170"}
is_a: MONDO:0002140 {source="DOID:5170", source="MONDO:Redundant"} ! vagina sarcoma
is_a: MONDO:0003314 ! endometrioid stromal and related neoplasms of the vagina
is_a: MONDO:0006745 ! endometrioid stromal sarcoma
property_value: exactMatch DOID:5170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642329
property_value: exactMatch NCIT:C40270

[Term]
id: MONDO:0003314
name: endometrioid stromal and related neoplasms of the vagina
def: "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." [NCIT:C40269]
synonym: "endometrioid stromal and related neoplasms of the vagina" EXACT [NCIT:C40269]
synonym: "endometrioid stromal and related neoplasms of vagina" EXACT [MONDO:design_pattern]
synonym: "endometrioid stromal and related tumors of the vagina" EXACT [NCIT:C40269]
synonym: "vagina endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal endometrial stromal tumor" RELATED [DOID:5171]
xref: DOID:5171 {source="MONDO:equivalentTo"}
xref: NCIT:C40269 {source="MONDO:equivalentTo", source="DOID:5171"}
xref: UMLS:C4289585 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021050 ! vaginal neoplasm
is_a: MONDO:0037742 {source="MONDO:Redundant", source="NCIT:C40269"} ! endometrioid stromal and related neoplasms
relationship: excluded_subClassOf MONDO:0001402 {source="DOID:5171"} ! vaginal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642328
property_value: exactMatch DOID:5171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289585
property_value: exactMatch NCIT:C40269

[Term]
id: MONDO:0003315
name: endometrium carcinoma in situ
def: "A carcinoma in situ involving a endometrium." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of endometrium" EXACT [DOID:5172, MONDO:patterns/carcinoma_in_situ]
synonym: "endometrial carcinoma in situ" EXACT [DOID:5172, NCIT:C9071]
synonym: "endometrium in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 endometrium carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:5172 {source="MONDO:equivalentTo"}
xref: ICD10:D07.0 {source="MONDO:equivalentTo", source="DOID:5172"}
xref: ICD9:233.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:92582009 {source="MONDO:equivalentTo", source="DOID:5172", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346191 {source="MONDO:equivalentTo", source="DOID:5172"}
is_a: MONDO:0002447 ! endometrial carcinoma (disease)
is_a: MONDO:0004710 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterus carcinoma in situ
property_value: closeMatch http://identifiers.org/snomedct/189343006
property_value: exactMatch DOID:5172
property_value: exactMatch http://identifiers.org/snomedct/92582009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346191

[Term]
id: MONDO:0003316
name: nonanaplastic kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." [NCIT:C6951]
synonym: "Nonanaplastic kidney Wilms tumor" EXACT [NCIT:C6951]
synonym: "Nonanaplastic renal Wilm's tumor" EXACT [DOID:5176, NCIT:C6951]
synonym: "Nonanaplastic renal Wilms tumor" EXACT [NCIT:C6951]
synonym: "nonanaplastic renal Wilms tumor" RELATED [DOID:5176]
synonym: "Nonanaplastic renal Wilms' tumor" EXACT [NCIT:C6951]
xref: NCIT:C6951 {source="MONDO:equivalentTo"}
xref: UMLS:C1335062 {source="MONDO:equivalentTo", source="NCIT:C6951"}
is_a: MONDO:0019004 {source="MONDOLEX:0003316", source="NCIT:C6951"} ! kidney Wilms tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335062
property_value: exactMatch NCIT:C6951

[Term]
id: MONDO:0003317
name: metachronous kidney Wilms' tumor
def: "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." [NCIT:P378]
synonym: "metachronous Wilms tumor" EXACT [NCIT:C38158]
synonym: "metachronous Wilms tumor of the kidney" EXACT [DOID:5178, NCIT:C38158]
synonym: "metachronous Wilms' tumor" EXACT [NCIT:C38158]
xref: DOID:5178 {source="MONDO:equivalentTo"}
xref: NCIT:C38158 {source="DOID:5178", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.87"}
xref: UMLS:C1334705 {source="DOID:5178", source="NCIT:C38158", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DOID:5178", source="MONDO:Redundant", source="MONDOLEX:0003317", source="NCIT:C38158"} ! kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0008679 {source="DOID:5178"} ! Wilms tumor type 1
property_value: exactMatch DOID:5178
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334705
property_value: exactMatch NCIT:C38158

[Term]
id: MONDO:0003318
name: mixed cell type kidney Wilms' tumor
def: "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." [NCIT:P378]
synonym: "mixed cell type kidney adenosarcoma" EXACT [NCIT:C9149]
synonym: "mixed cell type kidney Wilms tumor" EXACT [NCIT:C9149]
synonym: "mixed cell type nephroblastoma" EXACT [NCIT:C9149]
synonym: "mixed cell type renal adenosarcoma" EXACT [NCIT:C9149]
synonym: "mixed cell type renal Wilm's tumor" EXACT [NCIT:C9149]
synonym: "mixed cell type renal Wilms tumor" EXACT [DOID:5179, NCIT:C9149]
synonym: "mixed cell type renal Wilms' tumor" EXACT [NCIT:C9149]
synonym: "Mixed cell type Wilms tumor" EXACT [NCIT:C9149]
xref: DOID:5179 {source="MONDO:equivalentTo"}
xref: NCIT:C9149 {source="DOID:5179", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279611 {source="DOID:5179", source="NCIT:C9149", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DOID:5179", source="MONDO:Redundant", source="MONDOLEX:0003318", source="NCIT:C9149"} ! kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0008679 {source="DOID:5179"} ! Wilms tumor type 1
property_value: exactMatch DOID:5179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279611
property_value: exactMatch NCIT:C9149

[Term]
id: MONDO:0003319
name: scrotum neoplasm
def: "A benign or malignant neoplasm that affects the scrotum." [NCIT:C4380]
synonym: "malignant scrotal neoplasm" EXACT [DOID:518]
synonym: "malignant tumor of scrotum" EXACT [DOID:518]
synonym: "malignant tumour of scrotum" EXACT [DOID:518]
synonym: "neoplasm of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380]
synonym: "neoplasm of the scrotum" EXACT [NCIT:C4380]
synonym: "scrotal Ca" EXACT [DOID:518]
synonym: "scrotal neoplasm" EXACT [NCIT:C4380]
synonym: "scrotal tumor" EXACT [NCIT:C4380]
synonym: "scrotum cancer" EXACT EXCLUDE [DOID:518]
synonym: "scrotum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "scrotum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380]
synonym: "tumor of the scrotum" EXACT [NCIT:C4380]
xref: DOID:518 {source="MONDO:equivalentTo"}
xref: ICD10:C63.2 {source="DOID:518"}
xref: ICD9:187.7 {source="DOID:518", source="MONDO:superClassOf"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4380 {source="DOID:518", source="MONDO:equivalentTo"}
xref: SCTID:126905005 {source="MONDO:kboom-pr-1.00/0.91/26.59", source="DOID:518", source="MONDO:equivalentTo"}
xref: UMLS:C0341790 {source="MEDGEN:kboom-pr98-c99", source="DOID:518", source="MONDO:equivalentTo", source="NCIT:C4380"}
is_a: MONDO:0024582 ! male reproductive system neoplasm
is_a: MONDO:0045003 ! scrotal disease
property_value: closeMatch http://identifiers.org/snomedct/154538005
property_value: closeMatch http://identifiers.org/snomedct/93999006
property_value: exactMatch DOID:518
property_value: exactMatch http://identifiers.org/snomedct/126905005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341790
property_value: exactMatch NCIT:C4380

[Term]
id: MONDO:0003320
name: blastema predominant kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the predominance of the blastema component." [NCIT:C9147]
synonym: "blastema predominant kidney adenosarcoma" EXACT [DOID:5182, NCIT:C9147]
synonym: "blastema predominant kidney Wilms tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant kidney Wilms' tumor" RELATED [DOID:5182]
synonym: "blastema predominant nephroblastoma" EXACT [NCIT:C9147]
synonym: "blastema predominant renal adenosarcoma" EXACT [NCIT:C9147]
synonym: "blastema predominant renal Wilm's tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant renal Wilms tumor" EXACT [DOID:5182, NCIT:C9147]
synonym: "blastema predominant renal Wilms' tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant Wilms tumor" EXACT [NCIT:C9147]
xref: DOID:5182 {source="MONDO:equivalentTo"}
xref: NCIT:C9147 {source="MONDO:equivalentTo", source="DOID:5182", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279609 {source="NCIT:C9147", source="MONDO:equivalentTo", source="DOID:5182"}
is_a: MONDO:0019004 {source="DOID:5182", source="MONDO:Redundant", source="MONDOLEX:0003320", source="NCIT:C9147"} ! kidney Wilms tumor
property_value: exactMatch DOID:5182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279609
property_value: exactMatch NCIT:C9147

[Term]
id: MONDO:0003321
name: hereditary Wilms' tumor
def: "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" [NCIT:P378]
synonym: "familial Wilms tumor" EXACT [NCIT:C8496]
synonym: "familial Wilms' tumor" EXACT [NCIT:C8496]
synonym: "hereditary kidney adenosarcoma" EXACT [NCIT:C8496]
synonym: "hereditary nephroblastoma" EXACT [NCIT:C8496]
synonym: "hereditary renal adenosarcoma" EXACT [NCIT:C8496]
synonym: "hereditary Wilms tumor" EXACT [DOID:5183, MONDO:patterns/hereditary, NCIT:C8496]
synonym: "hereditary Wilms' tumor" EXACT [DOID:5183, NCIT:C8496]
synonym: "WT1" NARROW [DOID:5183]
xref: DOID:5183 {source="MONDO:equivalentTo"}
xref: NCIT:C8496 {source="MONDO:kboom-pr-0.94/0.83/0.69", source="MONDO:equivalentTo", source="DOID:5183"}
xref: UMLS:C0677779 {source="NCIT:C8496", source="MONDO:equivalentTo", source="DOID:5183"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019004 {source="DOID:5183", source="MONDO:Redundant", source="MONDOLEX:0003321", source="NCIT:C8496"} ! kidney Wilms tumor
intersection_of: MONDO:0006058 ! Wilms tumor
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:5183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677779
property_value: exactMatch NCIT:C8496

[Term]
id: MONDO:0003322
name: epithelial predominant Wilms' tumor
def: "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes." [NCIT:P378]
synonym: "epithelial predominant kidney adenosarcoma" EXACT [DOID:5189, NCIT:C9146]
synonym: "epithelial predominant kidney Wilms tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant nephroblastoma" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal adenosarcoma" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal Wilm's tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal Wilms tumor" EXACT [DOID:5189, NCIT:C9146]
synonym: "epithelial predominant renal Wilms' tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant Wilms tumor" EXACT [NCIT:C9146]
xref: DOID:5189 {source="MONDO:equivalentTo"}
xref: NCIT:C9146 {source="DOID:5189", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279608 {source="DOID:5189", source="NCIT:C9146", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DOID:5189", source="MONDO:Redundant", source="MONDOLEX:0003322", source="NCIT:C9146"} ! kidney Wilms tumor
property_value: exactMatch DOID:5189
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279608
property_value: exactMatch NCIT:C9146

[Term]
id: MONDO:0003324
name: obsolete stromal predominant kidney Wilms' tumor
is_obsolete: true
replaced_by: MONDO:0006432

[Term]
id: MONDO:0003325
name: nodular ganglioneuroblastoma
def: "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." [NCIT:C42058]
synonym: "ganglioneuroblastoma, nodular" EXACT [NCIT:C42058]
xref: DOID:5193 {source="MONDO:equivalentTo"}
xref: NCIT:C42058 {source="MONDO:equivalentTo", source="DOID:5193", source="exact-label-match"}
xref: UMLS:C1517445 {source="MONDO:equivalentTo", source="DOID:5193", source="NCIT:C42058"}
is_a: MONDO:0005035 {source="DOID:5193", source="NCIT:C42058"} ! ganglioneuroblastoma (disease)
property_value: exactMatch DOID:5193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517445
property_value: exactMatch NCIT:C42058

[Term]
id: MONDO:0003326
name: intermixed schwannian stroma-rich ganglioneuroblastoma
def: "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." [NCIT:P378]
synonym: "ganglioneuroblastoma, intermixed" EXACT [NCIT:C42057]
synonym: "ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)" EXACT [NCIT:C42057]
xref: DOID:5194 {source="MONDO:equivalentTo"}
xref: NCIT:C42057 {source="MONDO:equivalentTo", source="DOID:5194", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1517444 {source="MONDO:equivalentTo", source="DOID:5194", source="NCIT:C42057"}
is_a: MONDO:0005035 {source="DOID:5194", source="NCIT:C42057"} ! ganglioneuroblastoma (disease)
property_value: exactMatch DOID:5194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517444
property_value: exactMatch NCIT:C42057

[Term]
id: MONDO:0003327
name: peripheral ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the peripheral nervous system." [NCIT:P378]
comment: Editor note: logical definition removed as it leads to equivalency with parent
synonym: "ganglioneuroblastoma (disease) of peripheral nervous system" EXACT []
synonym: "peripheral ganglioneuroblastoma" EXACT [NCIT:C6594]
synonym: "peripheral nervous system ganglioneuroblastoma" EXACT [NCIT:C6594]
synonym: "peripheral nervous system ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "PNS ganglioneuroblastoma" EXACT [DOID:5195, NCIT:C6594]
xref: DOID:5195 {source="MONDO:equivalentTo"}
xref: NCIT:C6594 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5195"}
xref: UMLS:C1335387 {source="NCIT:C6594", source="MONDO:equivalentTo", source="DOID:5195"}
is_a: MONDO:0001406 ! peripheral nervous system neoplasm
is_a: MONDO:0005035 {source="DOID:5195", source="MONDO:Redundant", source="NCIT:C6594"} ! ganglioneuroblastoma (disease)
property_value: exactMatch DOID:5195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335387
property_value: exactMatch NCIT:C6594

[Term]
id: MONDO:0003328
name: fallopian tube adenomatoid tumor
def: "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." [NCIT:C40129]
synonym: "fallopian tube adenomatoid tumor" EXACT [MONDO:patterns/location, NCIT:C40129]
xref: DOID:5196 {source="MONDO:equivalentTo"}
xref: NCIT:C40129 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5196"}
xref: UMLS:C1517110 {source="NCIT:C40129", source="MONDO:equivalentTo", source="DOID:5196"}
is_a: MONDO:0000645 {source="DOID:5196", source="NCIT:C40129"} ! fallopian tube benign neoplasm
is_a: MONDO:0002373 ! benign mesothelioma
is_a: MONDO:0004230 {source="DOID:5196", source="MONDO:Redundant", source="MONDOLEX:0003328", source="NCIT:C40129"} ! adenomatoid tumor
property_value: exactMatch DOID:5196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517110
property_value: exactMatch NCIT:C40129

[Term]
id: MONDO:0003329
name: ureteral obstruction (disease)
def: "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." [MESH:D014517]
synonym: "ureteral obstruction" EXACT [MONDO:ambiguous]
xref: DOID:5199 {source="MONDO:equivalentTo"}
xref: HP:0006000 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:593.4 {source="MONDO:relatedTo", source="i2s", source="DOID:5199"}
xref: MESH:D014517 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:20018005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.55"}
is_a: MONDO:0001926 {source="DOID:5199", source="MESH:D014517", source="linkedlifedata", source="linkedlifedata/inferred"} ! ureteral disease
is_a: MONDO:0003330 {source="DOID:5199", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary tract obstruction
property_value: closeMatch http://identifiers.org/snomedct/197807001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029866
property_value: exactMatch DOID:5199
property_value: exactMatch http://identifiers.org/mesh/D014517
property_value: exactMatch http://identifiers.org/snomedct/20018005

[Term]
id: MONDO:0003330
name: urinary tract obstruction
def: "Blockage of the normal flow of contents of the urinary tract." [NCIT:P378]
synonym: "obstructive uropathy" EXACT [DOID:5200, NCIT:C3675]
synonym: "urinary obstruction" EXACT [DOID:5200, ICD9CM_2006:599.6]
xref: COHD:194406 {source="MONDO:equivalentTo"}
xref: DOID:5200 {source="MONDO:equivalentTo"}
xref: ICD10:N13.9 {source="DOID:5200"}
xref: ICD9:599.6 {source="DOID:5200", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:599.60 {source="DOID:5200", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3675 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:7163005 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0178879 {source="DOID:5200", source="MONDO:equivalentTo", source="NCIT:C3675"}
is_a: MONDO:0002118 {source="DOID:5200", source="NCIT:C3675", source="linkedlifedata/inferred"} ! urinary system disease
property_value: closeMatch http://identifiers.org/snomedct/197936002
property_value: closeMatch http://identifiers.org/snomedct/266567006
property_value: closeMatch http://identifiers.org/snomedct/266636004
property_value: exactMatch DOID:5200
property_value: exactMatch http://identifiers.org/snomedct/7163005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178879
property_value: exactMatch NCIT:C3675
property_value: exactMatch NCIT:C79805

[Term]
id: MONDO:0003331
name: ovarian monodermal teratoma
def: "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." [NCIT:C7286]
synonym: "monodermal teratoma" EXACT [NCIT:C7286]
synonym: "monodermal teratoma (morphologic abnormality)" EXACT [DOID:5207]
synonym: "ovarian monodermal teratoma" EXACT [DOID:5207, NCIT:C7286]
xref: DOID:5207 {source="MONDO:equivalentTo"}
xref: NCIT:C7286 {source="DOID:5207", source="MONDO:equivalentTo"}
xref: UMLS:C1302569 {source="NCIT:C7286", source="DOID:5207", source="MONDO:equivalentTo"}
is_a: MONDO:0005602 {source="DOID:5207", source="NCIT:C7286"} ! ovarian teratoma
property_value: closeMatch http://identifiers.org/snomedct/399632009
property_value: exactMatch DOID:5207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302569
property_value: exactMatch NCIT:C7286

[Term]
id: MONDO:0003332
name: malignant struma ovarii
def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." [NCIT:P378]
synonym: "struma ovarii, malignant" EXACT [MONDO:patterns/malignant]
synonym: "struma ovarii, malignant (morphologic abnormality)" EXACT [DOID:5208]
xref: DOID:5208 {source="MONDO:equivalentTo"}
xref: ICDO:9090/3 {source="NCIT:C4291"}
xref: NCIT:C4291 {source="MONDO:equivalentTo", source="DOID:5208"}
xref: UMLS:C0334525 {source="MONDO:equivalentTo", source="DOID:5208", source="NCIT:C4291"}
is_a: MONDO:0006444 {source="NCIT:C4291"} ! teratoma with malignant transformation
is_a: MONDO:0006980 {source="DOID:5208", source="MONDO:Redundant", source="NCIT:C4291"} ! struma ovarii
is_a: MONDO:0018369 ! immature ovarian teratoma
property_value: closeMatch http://identifiers.org/snomedct/18854008
property_value: exactMatch DOID:5208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334525
property_value: exactMatch NCIT:C4291

[Term]
id: MONDO:0003333
name: benign struma ovarii
def: "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." [NCIT:C40012]
synonym: "benign struma ovarii" EXACT [NCIT:C40012]
synonym: "struma ovarii, benign" EXACT [MONDO:patterns/benign]
xref: DOID:5209 {source="MONDO:equivalentTo"}
xref: NCIT:C40012 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:5209"}
xref: UMLS:C1511104 {source="MONDO:equivalentTo", source="DOID:5209", source="NCIT:C40012"}
is_a: MONDO:0000646 ! ovarian benign neoplasm
is_a: MONDO:0006980 {source="DOID:5209", source="MONDO:Redundant", source="NCIT:C40012"} ! struma ovarii
property_value: exactMatch DOID:5209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511104
property_value: exactMatch NCIT:C40012

[Term]
id: MONDO:0003334
name: demyelinating polyneuropathy
def: "Polyneuropathy that is characterized by demyelination of axons." [NCIT:P378]
synonym: "peripheral demyelinating neuropathy" EXACT [DOID:5214]
xref: DOID:5214 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27062 {source="DOID:5214", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:23414001 {source="DOID:5214", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0270922 {source="DOID:5214", source="MONDO:equivalentTo", source="NCIT:C27062"}
is_a: MONDO:0001824 {source="DOID:5214", source="MONDOLEX:0003334", source="NCIT:C27062"} ! polyneuropathy
is_a: MONDO:0002562 {source="NCIT:C27062"} ! demyelinating disease
property_value: exactMatch DOID:5214
property_value: exactMatch http://identifiers.org/snomedct/23414001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270922
property_value: exactMatch NCIT:C27062

[Term]
id: MONDO:0003335
name: chronic polyneuropathy
def: "Polyneuropathy that is persistent or long-standing in nature." [NCIT:P378]
synonym: "polyneuropathy, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:5221 {source="MONDO:equivalentTo"}
xref: NCIT:C36071 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:5221"}
xref: UMLS:C1167650 {source="MONDO:equivalentTo", source="NCIT:C36071", source="DOID:5221"}
is_a: MONDO:0001824 {source="DOID:5221", source="MONDO:Redundant", source="MONDOLEX:0003335", source="NCIT:C36071"} ! polyneuropathy
property_value: exactMatch DOID:5221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1167650
property_value: exactMatch NCIT:C36071

[Term]
id: MONDO:0003336
name: acute necrotizing encephalitis
def: "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" [MESH:D004684]
subset: gard_rare
synonym: "acute necrotizing encephalitis" EXACT [GARD:0013233]
synonym: "acute necrotizing encephalopathy" RELATED [GARD:0013233]
synonym: "ANE" RELATED [GARD:0013233]
xref: DOID:5222 {source="MONDO:equivalentTo"}
xref: GARD:0013233 {source="MONDO:equivalentTo"}
xref: ICD9:049.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35383 {source="DOID:5222", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:111897007 {source="GARD:0013233", source="DOID:5222", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338418 {source="DOID:5222", source="NCIT:C35383", source="MONDO:equivalentTo"}
is_a: MONDO:0006009 {source="NCIT:C35383", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral encephalitis
property_value: exactMatch DOID:5222
property_value: exactMatch http://identifiers.org/snomedct/111897007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338418
property_value: exactMatch NCIT:C35383

[Term]
id: MONDO:0003337
name: acute hemorrhagic encephalitis
def: "Acute encephalitis that is characterized by bleeding." [NCIT:C35796]
synonym: "acute hemorrhagic encephalitis" EXACT [NCIT:C35796]
xref: DOID:5224 {source="MONDO:equivalentTo"}
xref: NCIT:C35796 {source="DOID:5224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1332149 {source="DOID:5224", source="MONDO:equivalentTo"}
is_a: MONDO:0006009 {source="NCIT:C35796"} ! viral encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0858542
property_value: exactMatch DOID:5224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332149
property_value: exactMatch NCIT:C35796

[Term]
id: MONDO:0003338
name: obsolete von Economo disease
synonym: "obsolete von Economo's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019384

[Term]
id: MONDO:0003339
name: obsolete hepatoerythropoietic porphyria
is_obsolete: true
replaced_by: MONDO:0019799

[Term]
id: MONDO:0003340
name: malignant glomus tumor
def: "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." [NCIT:C4221]
synonym: "glomangiosarcoma" EXACT [NCIT:C4221]
synonym: "glomus tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant glomus neoplasm" EXACT [DOID:5233, NCIT:C4221]
synonym: "malignant glomus tumor" EXACT [NCIT:C4221]
xref: DOID:5233 {source="MONDO:equivalentTo"}
xref: ICDO:8710/3 {source="NCIT:C4221"}
xref: ICDO:8711/3 {source="NCIT:C4221"}
xref: NCIT:C4221 {source="DOID:5233", source="MONDO:equivalentTo"}
xref: ONCOTREE:MGST {source="MONDO:equivalentTo"}
xref: UMLS:C1266111 {source="DOID:5233", source="NCIT:C4221", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0018327 {source="DOID:5233", source="MONDO:Redundant", source="NCIT:C4221"} ! glomus tumor
property_value: closeMatch http://identifiers.org/snomedct/128908003
property_value: closeMatch http://identifiers.org/snomedct/13875003
property_value: exactMatch DOID:5233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266111
property_value: exactMatch NCIT:C4221

[Term]
id: MONDO:0003341
name: subungual glomus tumor
def: "A glomus tumor arising in the finger and usually associated with pain." [NCIT:C36079]
synonym: "subungual glomus tumor" EXACT [DOID:5236, NCIT:C36079]
xref: DOID:5236 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C36079 {source="DOID:5236", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:403973004 {source="DOID:5236", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1304510 {source="DOID:5236", source="NCIT:C36079", source="MONDO:equivalentTo"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="NCIT:C36079"} ! skin glomus tumor
is_a: MONDO:0017588 ! nail tumor
property_value: exactMatch DOID:5236
property_value: exactMatch http://identifiers.org/snomedct/403973004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304510
property_value: exactMatch NCIT:C36079

[Term]
id: MONDO:0003342
name: benign perivascular tumor
def: "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:P378]
synonym: "benign Pericytic neoplasm" EXACT [NCIT:C6529]
synonym: "benign pericytic neoplasm" EXACT []
synonym: "benign Pericytic tumor" EXACT [NCIT:C6529]
synonym: "benign perivascular neoplasm" EXACT [NCIT:C6529]
synonym: "benign perivascular tumor" EXACT [NCIT:C6529]
synonym: "pericytic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: DOID:5238 {source="MONDO:equivalentTo"}
xref: NCIT:C6529 {source="MONDO:kboom-pr-1.00/0.84/12.83", source="DOID:5238", source="MONDO:equivalentTo"}
xref: UMLS:C1332532 {source="DOID:5238", source="MONDO:equivalentTo", source="NCIT:C6529"}
is_a: MONDO:0002604 {source="MONDO:Redundant", source="NCIT:C6529", source="OWLReasoner:2017"} ! pericytic neoplasm
is_a: MONDO:0005165 ! benign neoplasm
relationship: excluded_subClassOf MONDO:0000629 {source="DOID:5238"} ! cardiovascular organ benign neoplasm
property_value: exactMatch DOID:5238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332532
property_value: exactMatch NCIT:C6529

[Term]
id: MONDO:0003343
name: retinal hemangioblastoma
def: "A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement." [NCIT:C39783]
synonym: "hemangioblastoma of vasculature of retina" EXACT [MONDO:design_pattern]
synonym: "retinal capillary hemangioblastoma" EXACT [NCIT:C39783]
synonym: "retinal hemangioblastoma" EXACT [NCIT:C39783]
synonym: "vasculature of retina hemangioblastoma" EXACT [MONDO:patterns/location]
xref: DOID:5240 {source="MONDO:equivalentTo"}
xref: NCIT:C39783 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5240"}
xref: UMLS:C1514915 {source="NCIT:C39783", source="MONDO:equivalentTo", source="DOID:5240"}
is_a: MONDO:0002311 {source="DOID:5240"} ! retinal vascular disease
is_a: MONDO:0016748 {source="DOID:5240", source="MONDO:Redundant", source="NCIT:C39783", source="OWLReasoner:2017"} ! hemangioblastoma
is_a: MONDO:0021541 ! hemangioma of retina
property_value: exactMatch DOID:5240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514915
property_value: exactMatch NCIT:C39783

[Term]
id: MONDO:0003344
name: obsolete hemangioblastoma
is_obsolete: true
replaced_by: MONDO:0016748

[Term]
id: MONDO:0003345
name: hilar cholangiocarcinoma
def: "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." [NCIT:C36077]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99978"}
synonym: "cholangiocarcinoma of hilar portion of hepatic duct" EXACT [MONDO:design_pattern]
synonym: "hilar CC" EXACT [NCIT:C36077]
synonym: "hilar CCA" EXACT [Orphanet:99978]
synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, NCIT:C36077, Orphanet:99978]
synonym: "hilar cholangiocellular carcinoma" RELATED [DOID:5246]
synonym: "hilar portion of hepatic duct cholangiocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077]
synonym: "Klatskin's tumor" EXACT [GARD:0010175, MONDO:0006822]
synonym: "perihilar cholangiocarcinoma" RELATED [GARD:0010175]
synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C5859]
xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"}
xref: DOID:5246 {source="MONDO:equivalentTo"}
xref: EFO:1001005 {source="MONDO:equivalentTo"}
xref: GARD:0010175 {source="MONDO:equivalentTo"}
xref: ICD10:C24.0 {source="Orphanet:99978", source="ORDO:99978/ntbt"}
xref: MESH:D018285 {source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927"}
xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"}
xref: Orphanet:99978 {source="GARD:0010175", source="MONDO:equivalentTo"}
xref: SCTID:253017000 {source="MONDO:equivalentTo", source="DOID:4927", source="MONDO:kboom-pr-0.92/0.83/0.13"}
xref: UMLS:C0206702 {source="GARD:0010175", source="NCIT:C36077", source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="DOID:4927"}
is_a: MONDO:0003210 {source="DOID:4927"} ! intrahepatic cholangiocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/6492006
property_value: exactMatch DOID:4927
property_value: exactMatch DOID:5246
property_value: exactMatch http://identifiers.org/mesh/D018285
property_value: exactMatch http://identifiers.org/snomedct/253017000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206702
property_value: exactMatch NCIT:C36077
property_value: exactMatch Orphanet:99978
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor xsd:anyURI {source="GARD:0010175"}

[Term]
id: MONDO:0003346
name: central nervous system vasculitis
def: "Vasculitis affecting the blood vessels of the brain and/or spinal cord." [NCIT:P378]
synonym: "central nervous system vasculitis" EXACT [MONDO:patterns/location]
synonym: "vasculitis of central nervous system" EXACT [MONDO:design_pattern]
xref: DOID:525 {source="MONDO:equivalentTo"}
xref: MESH:D020293 {source="DOID:525", source="MONDO:equivalentTo"}
xref: NCIT:C84622 {source="DOID:525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0751878 {source="NCIT:C84622", source="DOID:525", source="MONDO:equivalentTo"}
is_a: MONDO:0002602 {source="DOID:525", source="MESH:D020293/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system disease
is_a: MONDO:0018882 {source="DOID:525", source="MESH:D020293", source="MONDO:Redundant", source="NCIT:C84622"} ! vasculitis
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:525
property_value: exactMatch http://identifiers.org/mesh/D020293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751878
property_value: exactMatch NCIT:C84622

[Term]
id: MONDO:0003347
name: inflammatory leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." [NCIT:C27495]
synonym: "inflammatory leiomyosarcoma" EXACT [NCIT:C27495]
xref: DOID:5251 {source="MONDO:equivalentTo"}
xref: NCIT:C27495 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5251"}
xref: UMLS:C1334179 {source="NCIT:C27495", source="MONDO:equivalentTo", source="DOID:5251"}
is_a: MONDO:0005058 {source="DOID:5251", source="NCIT:C27495"} ! leiomyosarcoma
property_value: exactMatch DOID:5251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334179
property_value: exactMatch NCIT:C27495

[Term]
id: MONDO:0003348
name: conventional leiomyosarcoma
def: "An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion." [NCIT:C9428]
synonym: "classic leiomyosarcoma" EXACT [NCIT:C9428]
synonym: "conventional leiomyosarcoma" EXACT [NCIT:C9428]
xref: DOID:5253 {source="MONDO:equivalentTo"}
xref: NCIT:C9428 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5253"}
xref: UMLS:C1333157 {source="MONDO:equivalentTo", source="NCIT:C9428", source="DOID:5253"}
is_a: MONDO:0005058 {source="DOID:5253", source="NCIT:C9428"} ! leiomyosarcoma
property_value: exactMatch DOID:5253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333157
property_value: exactMatch NCIT:C9428

[Term]
id: MONDO:0003349
name: central nervous system leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6999]
synonym: "central nervous system leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6999]
synonym: "CNS leiomyosarcoma" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of central nervous system" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of CNS" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of the central nervous system" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of the CNS" EXACT [DOID:5254, NCIT:C6999]
xref: DOID:5254 {source="MONDO:equivalentTo"}
xref: NCIT:C6999 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5254"}
xref: UMLS:C1334385 {source="MONDO:equivalentTo", source="NCIT:C6999", source="DOID:5254"}
is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C6999"} ! central nervous system sarcoma
is_a: MONDO:0005058 {source="DOID:5254", source="MONDO:Redundant", source="NCIT:C6999/inferred"} ! leiomyosarcoma
is_a: MONDO:0037740 ! malignant central nervous system mesenchymal, non-meningothelial neoplasm
property_value: exactMatch DOID:5254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334385
property_value: exactMatch NCIT:C6999

[Term]
id: MONDO:0003350
name: granular cell leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." [NCIT:C27494]
synonym: "granular cell leiomyosarcoma" EXACT [NCIT:C27494]
xref: DOID:5258 {source="MONDO:equivalentTo"}
xref: NCIT:C27494 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"}
xref: UMLS:C1333871 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"}
is_a: MONDO:0003252 ! granular cell cancer
is_a: MONDO:0005058 {source="DOID:5258", source="MONDO:Redundant", source="NCIT:C27494"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: MONDO:0006235 ! granular cell tumor
property_value: exactMatch DOID:5258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333871
property_value: exactMatch NCIT:C27494

[Term]
id: MONDO:0003351
name: colon leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5494]
synonym: "colon leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5494]
synonym: "colonic leiomyosarcoma" EXACT [DOID:5259, NCIT:C5494]
synonym: "leiomyosarcoma of colon" EXACT [NCIT:C5494]
synonym: "leiomyosarcoma of the colon" EXACT [NCIT:C5494]
xref: DOID:5259 {source="MONDO:equivalentTo"}
xref: NCIT:C5494 {source="DOID:5259", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333093 {source="NCIT:C5494", source="DOID:5259", source="MONDO:equivalentTo"}
is_a: MONDO:0003352 {source="DOID:5259", source="MONDO:Redundant", source="MONDOLEX:0003351", source="NCIT:C5494"} ! colon sarcoma
is_a: MONDO:0005058 {source="DOID:5259", source="MONDO:Redundant", source="NCIT:C5494/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333093
property_value: exactMatch NCIT:C5494

[Term]
id: MONDO:0003352
name: colon sarcoma
def: "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:C5495]
synonym: "colon sarcoma" EXACT [MONDO:patterns/location, NCIT:C5495]
synonym: "colonic sarcoma" EXACT [DOID:5260, NCIT:C5495]
synonym: "sarcoma of colon" EXACT [MONDO:patterns/sarcoma, NCIT:C5495]
synonym: "sarcoma of the colon" EXACT [NCIT:C5495]
xref: DOID:5260 {source="MONDO:equivalentTo"}
xref: NCIT:C5495 {source="MONDO:equivalentTo", source="DOID:5260", source="exact-label-match"}
xref: UMLS:C1333098 {source="NCIT:C5495", source="MONDO:equivalentTo", source="DOID:5260"}
is_a: MONDO:0005089 {source="DOID:5260", source="MONDO:Redundant", source="NCIT:C5495/inferred"} ! sarcoma
is_a: MONDO:0021063 {source="DOID:5260", source="MONDO:Redundant", source="NCIT:C5495", source="OWLReasoner:2017"} ! malignant colon neoplasm
property_value: exactMatch DOID:5260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333098
property_value: exactMatch NCIT:C5495

[Term]
id: MONDO:0003353
name: heart leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
synonym: "Cardiac leiomyosarcoma" EXACT [NCIT:C5364]
synonym: "heart leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5364]
synonym: "leiomyosarcoma of heart" EXACT [DOID:5261, NCIT:C5364]
synonym: "leiomyosarcoma of the heart" EXACT [NCIT:C5364]
xref: DOID:5261 {source="MONDO:equivalentTo"}
xref: NCIT:C5364 {source="MONDO:equivalentTo", source="DOID:5261", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332848 {source="NCIT:C5364", source="MONDO:equivalentTo", source="DOID:5261"}
is_a: MONDO:0003354 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364"} ! heart sarcoma
is_a: MONDO:0005058 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332848
property_value: exactMatch NCIT:C5364

[Term]
id: MONDO:0003354
name: heart sarcoma
def: "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." [NCIT:P378]
synonym: "Cardiac sarcoma" EXACT [NCIT:C7723]
synonym: "cardiac sarcoma" EXACT [DOID:5262, NCIT:C7723]
synonym: "heart sarcoma" EXACT [MONDO:patterns/location, NCIT:C7723]
synonym: "sarcoma of heart" EXACT [DOID:5262, MONDO:patterns/sarcoma, NCIT:C7723]
synonym: "sarcoma of the heart" EXACT [NCIT:C7723]
xref: DOID:5262 {source="MONDO:equivalentTo"}
xref: NCIT:C7723 {source="MONDO:equivalentTo", source="DOID:5262", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238152 {source="MONDO:equivalentTo", source="NCIT:C7723", source="DOID:5262"}
is_a: MONDO:0001340 {source="DOID:5262", source="MONDO:Redundant", source="NCIT:C7723"} ! heart cancer
is_a: MONDO:0018078 {source="NCIT:C7723"} ! soft tissue sarcoma
property_value: exactMatch DOID:5262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238152
property_value: exactMatch NCIT:C7723

[Term]
id: MONDO:0003355
name: ovary leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5234]
synonym: "leiomyosarcoma of ovary" EXACT [DOID:5263, NCIT:C5234]
synonym: "leiomyosarcoma of the ovary" EXACT [NCIT:C5234]
synonym: "ovarian leiomyosarcoma" EXACT [MONDO:0005612, NCIT:C5234]
synonym: "ovary leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5263 {source="MONDO:equivalentTo"}
xref: EFO:0006718 {source="MONDO:equivalentTo"}
xref: NCIT:C5234 {source="MONDO:equivalentTo", source="EFO:0006718", source="DOID:5263"}
xref: UMLS:C1335163 {source="MONDO:equivalentTo", source="NCIT:C5234", source="EFO:0006718", source="DOID:5263"}
is_a: MONDO:0002225 {source="DOID:5263", source="MONDO:Redundant", source="NCIT:C5234"} ! ovarian sarcoma
is_a: MONDO:0005058 {source="DOID:5263", source="EFO:0006718", source="MONDO:Redundant", source="NCIT:C5234/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335163
property_value: exactMatch NCIT:C5234

[Term]
id: MONDO:0003356
name: epithelioid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." [NCIT:C3700]
synonym: "epithelioid leiomyosarcoma" EXACT [NCIT:C3700]
xref: DOID:5264 {source="MONDO:equivalentTo"}
xref: ICDO:8891/3 {source="NCIT:C3700"}
xref: NCIT:C3700 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5264"}
xref: UMLS:C0205815 {source="MONDO:equivalentTo", source="NCIT:C3700", source="DOID:5264"}
is_a: MONDO:0005058 {source="DOID:5264", source="NCIT:C3700"} ! leiomyosarcoma
property_value: closeMatch http://identifiers.org/snomedct/42392001
property_value: exactMatch DOID:5264
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205815
property_value: exactMatch NCIT:C3700

[Term]
id: MONDO:0003357
name: lung leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5667]
synonym: "leiomyosarcoma of lung" EXACT [NCIT:C5667]
synonym: "leiomyosarcoma of the lung" EXACT [NCIT:C5667]
synonym: "lung leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5667]
synonym: "pulmonary leiomyosarcoma" EXACT [DOID:5265, NCIT:C5667]
xref: DOID:5265 {source="MONDO:equivalentTo"}
xref: NCIT:C5667 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5265"}
xref: UMLS:C1334448 {source="MONDO:equivalentTo", source="NCIT:C5667", source="DOID:5265"}
is_a: MONDO:0002426 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667"} ! lung sarcoma
is_a: MONDO:0005058 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334448
property_value: exactMatch NCIT:C5667

[Term]
id: MONDO:0003358
name: anus leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
synonym: "anal leiomyosarcoma" EXACT [NCIT:C5599]
synonym: "anus leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of anus" EXACT [DOID:5267, NCIT:C5599]
synonym: "leiomyosarcoma of the anus" EXACT [NCIT:C5599]
xref: DOID:5267 {source="MONDO:equivalentTo"}
xref: NCIT:C5599 {source="DOID:5267", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332267 {source="DOID:5267", source="MONDO:equivalentTo", source="NCIT:C5599"}
is_a: MONDO:0002865 {source="DOID:5267", source="MONDO:Redundant", source="NCIT:C5599"} ! anus sarcoma
is_a: MONDO:0003379 ! rectum leiomyosarcoma
property_value: exactMatch DOID:5267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332267
property_value: exactMatch NCIT:C5599

[Term]
id: MONDO:0003359
name: myxoid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." [NCIT:C3701]
synonym: "myxoid leiomyosarcoma" EXACT [DOID:5268, NCIT:C3701]
synonym: "myxoid leiomyosarcoma (morphologic abnormality)" EXACT [DOID:5268]
xref: DOID:5268 {source="MONDO:equivalentTo"}
xref: ICDO:8896/3 {source="NCIT:C3701"}
xref: NCIT:C3701 {source="DOID:5268", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0205816 {source="DOID:5268", source="MONDO:equivalentTo", source="NCIT:C3701"}
is_a: MONDO:0005058 {source="DOID:5268", source="NCIT:C3701"} ! leiomyosarcoma
property_value: closeMatch http://identifiers.org/snomedct/16090008
property_value: closeMatch http://identifiers.org/snomedct/189792003
property_value: exactMatch DOID:5268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205816
property_value: exactMatch NCIT:C3701

[Term]
id: MONDO:0003360
name: small intestine leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7085]
subset: ordo_disease {source="Orphanet:104076"}
synonym: "leiomyosarcoma of small bowel" EXACT [NCIT:C7085]
synonym: "leiomyosarcoma of small intestine" EXACT [MONDO:0015190, NCIT:C7085]
synonym: "leiomyosarcoma of the small bowel" EXACT [DOID:5271, NCIT:C7085]
synonym: "leiomyosarcoma of the small intestine" EXACT [NCIT:C7085]
synonym: "small bowel leiomyosarcoma" EXACT [NCIT:C7085]
synonym: "small intestinal leiomyosarcoma" EXACT [NCIT:C7085]
synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C7085]
synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271]
xref: DOID:5271 {source="MONDO:equivalentTo"}
xref: ICD10:C17.0 {source="ORDO:104076/btnt", source="Orphanet:104076"}
xref: ICD10:C17.1 {source="ORDO:104076/btnt", source="Orphanet:104076"}
xref: ICD10:C17.2 {source="ORDO:104076/btnt", source="Orphanet:104076"}
xref: ICD10:C17.3 {source="ORDO:104076/btnt", source="Orphanet:104076"}
xref: ICD10:C17.8 {source="ORDO:104076/btnt", source="Orphanet:104076"}
xref: NCIT:C7085 {source="MONDO:equivalentTo", source="DOID:5271", source="kboom:pr0.82-conf10.15"}
xref: Orphanet:104076 {source="MONDO:equivalentTo"}
xref: SCTID:716651004 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0920305 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:5271", source="Orphanet:104076", source="NCIT:C7085"}
is_a: MONDO:0003361 {source="DOID:5271", source="MONDO:Redundant", source="NCIT:C7085"} ! small intestinal sarcoma
is_a: MONDO:0005058 {source="DOID:5271", source="MONDO:Redundant", source="NCIT:C7085/inferred", source="linkedlifedata"} ! leiomyosarcoma
is_a: MONDO:0018506 {source="Orphanet:104076"} ! mesenchymal tumor of small intestine
property_value: exactMatch DOID:5271
property_value: exactMatch http://identifiers.org/snomedct/716651004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0920305
property_value: exactMatch NCIT:C7085
property_value: exactMatch Orphanet:104076

[Term]
id: MONDO:0003361
name: small intestinal sarcoma
def: "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma." [NCIT:C5335]
synonym: "sarcoma of small bowel" EXACT [NCIT:C5335]
synonym: "sarcoma of small intestine" EXACT [MONDO:patterns/sarcoma, NCIT:C5335]
synonym: "sarcoma of the small bowel" EXACT [NCIT:C5335]
synonym: "sarcoma of the small intestine" EXACT [DOID:5272, NCIT:C5335]
synonym: "sarcoma, small intestinal" EXACT [NCIT:C5335]
synonym: "small bowel sarcoma" EXACT [NCIT:C5335]
synonym: "small intestinal sarcoma" EXACT [NCIT:C5335]
synonym: "small intestine sarcoma" EXACT [MONDO:patterns/location, NCIT:C5335]
xref: DOID:5272 {source="MONDO:equivalentTo"}
xref: NCIT:C5335 {source="MONDO:equivalentTo", source="DOID:5272", source="exact-label-match"}
xref: UMLS:C1336007 {source="MONDO:equivalentTo", source="NCIT:C5335", source="DOID:5272"}
is_a: MONDO:0000956 {source="DOID:5272", source="MONDO:Redundant", source="NCIT:C5335"} ! small intestine cancer
is_a: MONDO:0018078 {source="NCIT:C5335"} ! soft tissue sarcoma
property_value: exactMatch DOID:5272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336007
property_value: exactMatch NCIT:C5335

[Term]
id: MONDO:0003362
name: cutaneous leiomyosarcoma (disease)
def: "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
synonym: "cutaneous leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C4484]
synonym: "leiomyosarcoma of skin" EXACT [NCIT:C4484]
synonym: "leiomyosarcoma of the skin" EXACT [DOID:5273, NCIT:C4484]
synonym: "leiomyosarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin leiomyosarcoma" EXACT [NCIT:C4484]
synonym: "zone of skin leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5273 {source="MONDO:equivalentTo"}
xref: HP:0006755 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C4484 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5273", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254771006 {source="MONDO:equivalentTo", source="DOID:5273", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346067 {source="NCIT:C4484", source="MONDO:equivalentTo", source="DOID:5273"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C4484", source="linkedlifedata"} ! leiomyosarcoma
is_a: MONDO:0006414 {source="DOID:5273", source="MONDO:Redundant", source="NCIT:C4484"} ! skin sarcoma
property_value: exactMatch DOID:5273
property_value: exactMatch http://identifiers.org/snomedct/254771006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346067
property_value: exactMatch NCIT:C4484

[Term]
id: MONDO:0003363
name: malignant dermis tumor
def: "A malignant neoplasm involving the dermis." [MONDO:DesignPattern]
synonym: "cancer of dermis" EXACT [MONDO:patterns/cancer]
synonym: "dermis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant dermal neoplasm" EXACT [NCIT:C4574]
synonym: "malignant dermis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4574]
synonym: "malignant dermis tumor" EXACT [NCIT:C4574]
synonym: "malignant neoplasm of dermis" EXACT [DOID:5274, MONDO:patterns/cancer, NCIT:C4574]
synonym: "malignant neoplasm of the dermis" EXACT [NCIT:C4574]
synonym: "malignant tumor of dermis" EXACT [NCIT:C4574]
synonym: "malignant tumor of the dermis" EXACT [NCIT:C4574]
xref: DOID:5274 {source="MONDO:equivalentTo"}
xref: NCIT:C4574 {source="MONDO:equivalentTo", source="DOID:5274", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:255096006 {source="MONDO:equivalentTo", source="DOID:5274", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346811 {source="MONDO:equivalentTo", source="NCIT:C4574", source="DOID:5274"}
is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4574"} ! dermis tumor
is_a: MONDO:0002898 {source="DOID:5274", source="MONDO:Redundant", source="NCIT:C4574", source="linkedlifedata"} ! skin cancer
property_value: exactMatch DOID:5274
property_value: exactMatch http://identifiers.org/snomedct/255096006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346811
property_value: exactMatch NCIT:C4574

[Term]
id: MONDO:0003364
name: gallbladder leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5841]
synonym: "gall bladder leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder leiomyosarcoma" EXACT [NCIT:C5841]
synonym: "leiomyosarcoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "leiomyosarcoma of gallbladder" EXACT [NCIT:C5841]
synonym: "leiomyosarcoma of the gallbladder" EXACT [DOID:5275, NCIT:C5841]
xref: DOID:5275 {source="MONDO:equivalentTo"}
xref: NCIT:C5841 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5275"}
xref: UMLS:C1333746 {source="MONDO:equivalentTo", source="NCIT:C5841", source="DOID:5275"}
is_a: MONDO:0002857 {source="DOID:5275", source="MONDO:Redundant", source="MONDOLEX:0003364", source="NCIT:C5841"} ! gallbladder sarcoma
is_a: MONDO:0005058 ! leiomyosarcoma
property_value: exactMatch DOID:5275
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333746
property_value: exactMatch NCIT:C5841

[Term]
id: MONDO:0003365
name: esophagus leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
synonym: "esophageal leiomyosarcoma" EXACT [NCIT:C5334]
synonym: "esophagus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5334]
synonym: "leiomyosarcoma of esophagus" EXACT [DOID:5276, NCIT:C5334]
synonym: "leiomyosarcoma of the esophagus" EXACT [NCIT:C5334]
xref: DOID:5276 {source="MONDO:equivalentTo"}
xref: NCIT:C5334 {source="MONDO:equivalentTo", source="DOID:5276", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333454 {source="MONDO:equivalentTo", source="NCIT:C5334", source="DOID:5276"}
is_a: MONDO:0001204 {source="DOID:5276", source="MONDO:Redundant", source="NCIT:C5334"} ! esophagus sarcoma
is_a: MONDO:0005058 {source="DOID:5276", source="MONDO:Redundant", source="NCIT:C5334/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333454
property_value: exactMatch NCIT:C5334

[Term]
id: MONDO:0003366
name: hydrarthrosis
def: "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" [MESH:D006833]
xref: DOID:528 {source="MONDO:equivalentTo"}
xref: ICD9:719.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:719.08 {source="MONDO:relatedTo", source="DOID:528", source="i2s"}
xref: MESH:D006833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:387637008 {source="MONDO:kboom-pr-0.99/0.72/4.68", source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:528", source="MESH:D006833", source="linkedlifedata"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/156579009
property_value: closeMatch http://identifiers.org/snomedct/202370001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158157
property_value: exactMatch DOID:528
property_value: exactMatch http://identifiers.org/mesh/D006833
property_value: exactMatch http://identifiers.org/snomedct/387637008

[Term]
id: MONDO:0003367
name: gastric leiomyosarcoma (disease)
def: "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C27200]
synonym: "gastric leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C27200]
synonym: "leiomyosarcoma of stomach" EXACT [MONDO:design_pattern]
synonym: "stomach leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5280 {source="MONDO:equivalentTo"}
xref: HP:0031025 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C27200 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5280"}
xref: SCTID:447785000 {source="MONDO:equivalentTo", source="DOID:5280"}
xref: UMLS:C0744295 {source="NCIT:C27200", source="MONDO:equivalentTo", source="DOID:5280"}
is_a: MONDO:0001056 {source="DOID:5280", source="MONDO:Redundant", source="NCIT:C27200/inferred"} ! gastric cancer
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C27200/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! leiomyosarcoma
property_value: exactMatch DOID:5280
property_value: exactMatch http://identifiers.org/snomedct/447785000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744295
property_value: exactMatch NCIT:C27200

[Term]
id: MONDO:0003368
name: prostate leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5526]
synonym: "leiomyosarcoma of prostate" EXACT [NCIT:C5526]
synonym: "leiomyosarcoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "leiomyosarcoma of the prostate" EXACT [DOID:5282, NCIT:C5526]
synonym: "prostate gland leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "prostate leiomyosarcoma" EXACT [NCIT:C5526]
xref: DOID:5282 {source="MONDO:equivalentTo"}
xref: NCIT:C5526 {source="MONDO:equivalentTo", source="DOID:5282", source="exact-label-match"}
xref: UMLS:C1335511 {source="MONDO:equivalentTo", source="DOID:5282", source="NCIT:C5526"}
is_a: MONDO:0002854 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526"} ! prostate sarcoma
is_a: MONDO:0005058 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335511
property_value: exactMatch NCIT:C5526

[Term]
id: MONDO:0003369
name: vagina leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6326]
synonym: "leiomyosarcoma of the vagina" EXACT [DOID:5283, NCIT:C6326]
synonym: "leiomyosarcoma of vagina" EXACT [NCIT:C6326]
synonym: "vagina leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6326]
synonym: "vaginal leiomyosarcoma" EXACT [NCIT:C6326]
xref: DOID:5283 {source="MONDO:equivalentTo"}
xref: NCIT:C6326 {source="MONDO:equivalentTo", source="DOID:5283"}
xref: UMLS:C1336940 {source="MONDO:equivalentTo", source="NCIT:C6326", source="DOID:5283"}
is_a: MONDO:0002140 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326"} ! vagina sarcoma
is_a: MONDO:0005058 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336940
property_value: exactMatch NCIT:C6326

[Term]
id: MONDO:0003370
name: retroperitoneal leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C27904]
synonym: "leiomyosarcoma of retroperitoneal space" EXACT [MONDO:design_pattern]
synonym: "retroperitoneal leiomyosarcoma" EXACT [NCIT:C27904]
synonym: "retroperitoneal space leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5284 {source="MONDO:equivalentTo"}
xref: NCIT:C27904 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5284"}
xref: UMLS:C2187547 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27904"}
is_a: MONDO:0001501 {source="DOID:5284", source="MONDO:Redundant", source="NCIT:C27904"} ! retroperitoneal sarcoma
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C27904/inferred", source="OWLReasoner:2017"} ! leiomyosarcoma
property_value: exactMatch DOID:5284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2187547
property_value: exactMatch NCIT:C27904

[Term]
id: MONDO:0003371
name: breast leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5186]
synonym: "breast leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5186]
synonym: "leiomyosarcoma of breast" EXACT [NCIT:C5186]
synonym: "leiomyosarcoma of the breast" EXACT [DOID:5285, NCIT:C5186]
xref: DOID:5285 {source="MONDO:equivalentTo"}
xref: NCIT:C5186 {source="MONDO:equivalentTo", source="DOID:5285", source="exact-label-match"}
xref: UMLS:C1332631 {source="NCIT:C5186", source="MONDO:equivalentTo", source="DOID:5285"}
is_a: MONDO:0002490 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186"} ! breast sarcoma
is_a: MONDO:0005058 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332631
property_value: exactMatch NCIT:C5186

[Term]
id: MONDO:0003372
name: vulvar leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40318]
synonym: "leiomyosarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5286 {source="MONDO:equivalentTo"}
xref: EFO:1001975 {source="MONDO:equivalentTo"}
xref: NCIT:C40318 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5286"}
xref: UMLS:C2168304 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40318", source="MONDO:equivalentTo"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C40318/inferred", source="OWLReasoner:2017"} ! leiomyosarcoma
is_a: MONDO:0005214 {source="DOID:5286", source="EFO:1001975", source="MONDO:Redundant", source="NCIT:C40318"} ! vulva sarcoma
property_value: exactMatch DOID:5286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2168304
property_value: exactMatch NCIT:C40318

[Term]
id: MONDO:0003373
name: kidney leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6183]
synonym: "kidney leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6183]
synonym: "leiomyosarcoma of kidney" EXACT [DOID:5287, NCIT:C6183]
synonym: "leiomyosarcoma of the kidney" EXACT [NCIT:C6183]
synonym: "renal leiomyosarcoma" EXACT [NCIT:C6183]
xref: DOID:5287 {source="MONDO:equivalentTo"}
xref: NCIT:C6183 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5287"}
xref: UMLS:C1335743 {source="MONDO:equivalentTo", source="DOID:5287", source="NCIT:C6183"}
is_a: MONDO:0002930 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183"} ! kidney sarcoma
is_a: MONDO:0005058 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335743
property_value: exactMatch NCIT:C6183

[Term]
id: MONDO:0003374
name: laryngeal leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6022]
synonym: "laryngeal leiomyosarcoma" EXACT [NCIT:C6022]
synonym: "larynx leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6022]
synonym: "leiomyosarcoma of larynx" EXACT [DOID:5288, NCIT:C6022]
synonym: "leiomyosarcoma of the larynx" EXACT [NCIT:C6022]
xref: DOID:5288 {source="MONDO:equivalentTo"}
xref: NCIT:C6022 {source="DOID:5288", source="MONDO:equivalentTo"}
xref: UMLS:C1334371 {source="DOID:5288", source="NCIT:C6022", source="MONDO:equivalentTo"}
is_a: MONDO:0002448 {source="DOID:5288", source="MONDO:Redundant", source="NCIT:C6022"} ! laryngeal sarcoma
is_a: MONDO:0005058 {source="DOID:5288", source="MONDO:Redundant", source="NCIT:C6022/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5288
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334371
property_value: exactMatch NCIT:C6022

[Term]
id: MONDO:0003375
name: obsolete uterus leiomyosarcoma
synonym: "leiomyosarcoma of corpus uteri" EXACT [DOID:5289, NCIT:C6340]
synonym: "uterus leiomyosarcoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0016262

[Term]
id: MONDO:0003376
name: mediastinum leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
synonym: "leiomyosarcoma of mediastinum" EXACT [DOID:5292, NCIT:C6619]
synonym: "leiomyosarcoma of the mediastinum" EXACT [NCIT:C6619]
synonym: "mediastinal leiomyosarcoma" EXACT [NCIT:C6619]
synonym: "mediastinum leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5292 {source="MONDO:equivalentTo"}
xref: NCIT:C6619 {source="MONDO:equivalentTo", source="DOID:5292", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334660 {source="NCIT:C6619", source="MONDO:equivalentTo", source="DOID:5292"}
is_a: MONDO:0002852 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619"} ! mediastinum sarcoma
is_a: MONDO:0005058 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334660
property_value: exactMatch NCIT:C6619

[Term]
id: MONDO:0003377
name: extrahepatic bile duct leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5848]
synonym: "bile duct leiomyosarcoma" EXACT [NCIT:C5848]
synonym: "extrahepatic bile duct leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of bile duct" EXACT [NCIT:C5848]
synonym: "leiomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5848]
synonym: "leiomyosarcoma of the bile duct" EXACT [DOID:5293, NCIT:C5848]
synonym: "leiomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5848]
xref: DOID:5293 {source="MONDO:equivalentTo"}
xref: NCIT:C5848 {source="MONDO:equivalentTo", source="DOID:5293", source="exact-label-match"}
xref: UMLS:C1333508 {source="MONDO:equivalentTo", source="DOID:5293", source="NCIT:C5848"}
is_a: MONDO:0003090 {source="DOID:5293", source="MONDO:Redundant"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0003378 ! liver leiomyosarcoma
is_a: MONDO:0024658 ! extrahepatic bile duct sarcoma
property_value: exactMatch DOID:5293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333508
property_value: exactMatch NCIT:C5848

[Term]
id: MONDO:0003378
name: liver leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5756]
synonym: "hepatic leiomyosarcoma" EXACT [NCIT:C5756]
synonym: "leiomyosarcoma of liver" EXACT [NCIT:C5756]
synonym: "leiomyosarcoma of the liver" EXACT [DOID:5296, NCIT:C5756]
synonym: "liver leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5756]
xref: DOID:5296 {source="MONDO:equivalentTo"}
xref: NCIT:C5756 {source="MONDO:equivalentTo", source="DOID:5296", source="exact-label-match"}
xref: UMLS:C1333969 {source="MONDO:equivalentTo", source="NCIT:C5756", source="DOID:5296"}
is_a: MONDO:0002397 {source="DOID:5296", source="MONDO:Redundant", source="NCIT:C5756"} ! liver sarcoma
is_a: MONDO:0005058 {source="DOID:5296", source="MONDO:Redundant", source="NCIT:C5756/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333969
property_value: exactMatch NCIT:C5756

[Term]
id: MONDO:0003379
name: rectum leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5549]
synonym: "leiomyosarcoma of rectum" EXACT [DOID:5297, NCIT:C5549]
synonym: "leiomyosarcoma of the rectum" EXACT [NCIT:C5549]
synonym: "rectal leiomyosarcoma" EXACT [NCIT:C5549]
synonym: "rectum leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5297 {source="MONDO:equivalentTo"}
xref: NCIT:C5549 {source="MONDO:equivalentTo", source="DOID:5297"}
xref: UMLS:C1335683 {source="MONDO:equivalentTo", source="NCIT:C5549", source="DOID:5297"}
is_a: MONDO:0002168 {source="DOID:5297", source="MONDO:Redundant", source="MONDOLEX:0003379", source="NCIT:C5549"} ! rectum sarcoma
is_a: MONDO:0005058 {source="DOID:5297", source="MONDO:Redundant", source="NCIT:C5549/inferred"} ! leiomyosarcoma
property_value: exactMatch DOID:5297
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335683
property_value: exactMatch NCIT:C5549

[Term]
id: MONDO:0003380
name: obsolete endometrial clear cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006191

[Term]
id: MONDO:0003381
name: pituitary gland disease
def: "A disease involving the pituitary gland." [MONDO:DesignPattern]
synonym: "disease of pituitary gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pituitary gland" EXACT []
synonym: "disorder of pituitary gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pituitary gland" RELATED [MONDO:patterns/location_top]
synonym: "pituitary disease" EXACT [DOID:53]
synonym: "pituitary gland disease" EXACT [MONDO:patterns/location, NCIT:C26854]
synonym: "pituitary gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pituitary gland disorder" EXACT [NCIT:C26854]
xref: COHD:23986 {source="MONDO:equivalentTo"}
xref: DOID:53 {source="MONDO:equivalentTo"}
xref: ICD9:253.1 {source="DOID:53"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010900 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26854 {source="MONDO:equivalentTo"}
xref: SCTID:399244003 {source="MONDO:kboom-pr-1.00/0.79/8.54", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="MESH:D010900/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
is_a: MONDO:0100070 ! neuroendocrine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029493
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032002
property_value: exactMatch DOID:53
property_value: exactMatch http://identifiers.org/mesh/D010900
property_value: exactMatch http://identifiers.org/snomedct/399244003
property_value: exactMatch NCIT:C26854

[Term]
id: MONDO:0003382
name: eyelid disease
def: "A disease involving the eyelid." [MONDO:DesignPattern]
synonym: "disease of eyelid" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of eyelid" EXACT []
synonym: "disorder of eyelid" EXACT [MONDO:patterns/location_top]
synonym: "disorder of eyelid" RELATED [MONDO:patterns/location_top]
synonym: "eyelid disease" EXACT [MONDO:patterns/location]
synonym: "eyelid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "eyelid disorder" EXACT [NCIT:C26768]
xref: DOID:530 {source="MONDO:equivalentTo"}
xref: ICD10:H00 {source="MONDO:equivalentTo"}
xref: ICD10:H02.9 {source="DOID:530"}
xref: ICD9:374.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:374.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:530"}
xref: MESH:D005141 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:530"}
xref: NCIT:C26768 {source="MONDO:equivalentTo", source="DOID:530"}
xref: SCTID:60113004 {source="MONDO:equivalentTo", source="DOID:530"}
is_a: MONDO:0000462 {source="DOID:530", source="ICD10:H00", source="linkedlifedata"} ! eye adnexa disease
is_a: MONDO:0005328 {source="MESH:D005141", source="MONDO:Entailed", source="NCIT:C26768", source="OWLReasoner:2017"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155180006
property_value: closeMatch http://identifiers.org/snomedct/193970000
property_value: closeMatch http://identifiers.org/snomedct/267737009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015423
property_value: exactMatch DOID:530
property_value: exactMatch http://identifiers.org/mesh/D005141
property_value: exactMatch http://identifiers.org/snomedct/60113004
property_value: exactMatch NCIT:C26768

[Term]
id: MONDO:0003383
name: fallopian tube clear cell adenocarcinoma
def: "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells." [NCIT:C6280]
synonym: "clear cell adenocarcinoma of fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell adenocarcinoma of the fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell carcinoma of fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell carcinoma of the fallopian tube" EXACT [DOID:5301, NCIT:C6280]
synonym: "fallopian tube clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6280]
synonym: "fallopian tube clear cell carcinoma" EXACT [NCIT:C6280]
xref: DOID:5301 {source="MONDO:equivalentTo"}
xref: NCIT:C6280 {source="DOID:5301", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333591 {source="DOID:5301", source="MONDO:equivalentTo", source="NCIT:C6280"}
is_a: MONDO:0002746 {source="DOID:5301", source="MONDO:Redundant", source="MONDOLEX:0003383", source="NCIT:C6280"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5301", source="MONDO:Redundant", source="MONDOLEX:0003383", source="NCIT:C6280"} ! clear cell adenocarcinoma
property_value: exactMatch DOID:5301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333591
property_value: exactMatch NCIT:C6280

[Term]
id: MONDO:0003384
name: uterine ligament clear cell adenocarcinoma
def: "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated." [NCIT:C40139]
synonym: "uterine ligament clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40139]
xref: DOID:5302 {source="MONDO:equivalentTo"}
xref: NCIT:C40139 {source="DOID:5302", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519867 {source="NCIT:C40139", source="DOID:5302", source="MONDO:equivalentTo"}
is_a: MONDO:0002741 {source="DOID:5302", source="MONDO:Redundant", source="NCIT:C40139"} ! uterine ligament adenocarcinoma
is_a: MONDO:0006135 ! cervical clear cell adenocarcinoma
property_value: exactMatch DOID:5302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519867
property_value: exactMatch NCIT:C40139

[Term]
id: MONDO:0003385
name: obsolete cervical clear cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006135

[Term]
id: MONDO:0003386
name: bladder clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." [NCIT:C6179]
synonym: "bladder clear cell adenocarcinoma" EXACT [NCIT:C6179]
synonym: "bladder mesonephric adenocarcinoma" EXACT [DOID:5306, NCIT:C6179]
synonym: "clear cell adenocarcinoma of bladder" RELATED [DOID:5306, NCIT:C6179]
synonym: "clear cell adenocarcinoma of the bladder" RELATED [NCIT:C6179]
synonym: "clear cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6179]
synonym: "clear cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6179]
synonym: "urinary bladder clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6179]
xref: DOID:5306 {source="MONDO:equivalentTo"}
xref: NCIT:C6179 {source="NCIT:C6179", source="DOID:5306", source="MONDO:equivalentTo"}
xref: UMLS:C1332557 {source="NCIT:C6179", source="DOID:5306", source="MONDO:equivalentTo"}
is_a: MONDO:0002751 {source="DOID:5306", source="MONDO:Redundant", source="MONDOLEX:0003386", source="NCIT:C6179"} ! bladder adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5306", source="MONDO:Redundant", source="MONDOLEX:0003386", source="NCIT:C6179"} ! clear cell adenocarcinoma
property_value: exactMatch DOID:5306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332557
property_value: exactMatch NCIT:C6179

[Term]
id: MONDO:0003387
name: urethra clear cell adenocarcinoma
def: "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." [NCIT:P378]
synonym: "clear cell adenocarcinoma of the urethra" EXACT [DOID:5307, NCIT:C6172]
synonym: "clear cell adenocarcinoma of urethra" EXACT [NCIT:C6172]
synonym: "urethra clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6172]
synonym: "urethral clear cell adenocarcinoma" EXACT [NCIT:C6172]
xref: DOID:5307 {source="MONDO:equivalentTo"}
xref: NCIT:C6172 {source="MONDO:equivalentTo", source="DOID:5307", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336886 {source="MONDO:equivalentTo", source="DOID:5307", source="NCIT:C6172"}
is_a: MONDO:0003200 {source="DOID:5307", source="MONDO:Redundant", source="MONDOLEX:0003387", source="NCIT:C6172"} ! urethra adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5307", source="MONDO:Redundant", source="MONDOLEX:0003387", source="NCIT:C6172"} ! clear cell adenocarcinoma
property_value: exactMatch DOID:5307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336886
property_value: exactMatch NCIT:C6172

[Term]
id: MONDO:0003388
name: ampulla of vater clear cell adenocarcinoma
def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." [NCIT:C27414]
synonym: "ampulla of Vater clear cell adenocarcinoma" EXACT [NCIT:C27414]
synonym: "hepatopancreatic ampulla clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5308 {source="MONDO:equivalentTo"}
xref: NCIT:C27414 {source="MONDO:equivalentTo", source="DOID:5308", source="exact-label-match"}
xref: UMLS:C1332246 {source="MONDO:equivalentTo", source="DOID:5308", source="NCIT:C27414"}
is_a: MONDO:0002670 {source="DOID:5308", source="MONDO:Redundant", source="NCIT:C27414"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0004081 {source="DOID:5308", source="MONDO:Entailed", source="MONDO:Redundant"} ! extrahepatic bile duct clear cell adenocarcinoma
property_value: exactMatch DOID:5308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332246
property_value: exactMatch NCIT:C27414

[Term]
id: MONDO:0003389
name: epithelial-myoepithelial carcinoma
def: "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." [NCIT:C4199]
synonym: "EMYOCA" RELATED [ONCOTREE:EMYOCA]
synonym: "epithelial-myoepithelial carcinoma" EXACT [NCIT:C4199]
xref: DOID:5309 {source="MONDO:equivalentTo"}
xref: GARD:0006364 {source="MONDO:equivalentTo"}
xref: ICDO:8562/3 {source="NCIT:C4199"}
xref: NCIT:C4199 {source="MONDO:equivalentTo", source="DOID:5309", source="exact-label-match"}
xref: ONCOTREE:EMYOCA {source="MONDO:equivalentTo"}
xref: UMLS:C0334392 {source="NCIT:C4199", source="MONDO:equivalentTo", source="DOID:5309"}
is_a: MONDO:0004993 {source="NCIT:C4199"} ! carcinoma
relationship: excluded_subClassOf MONDO:0004669 {source="DOID:5309"} ! salivary gland cancer
property_value: closeMatch http://identifiers.org/snomedct/189722008
property_value: closeMatch http://identifiers.org/snomedct/9618003
property_value: exactMatch DOID:5309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334392
property_value: exactMatch NCIT:C4199

[Term]
id: MONDO:0003390
name: glycogen-rich clear cell breast carcinoma
def: "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." [NCIT:C40368]
synonym: "glycogen-rich carcinoma" EXACT [DOID:5310, NCIT:C4153]
synonym: "glycogen-rich carcinoma (morphologic abnormality)" EXACT [DOID:5310]
synonym: "Glycogen-rich, clear cell breast carcinoma" EXACT [NCIT:C40368]
xref: DOID:5310 {source="MONDO:equivalentTo"}
xref: ICDO:8315/3 {source="NCIT:C4153"}
xref: NCIT:C40368 {source="DOID:5310", source="MONDO:equivalentTo"}
xref: UMLS:C0334319 {source="DOID:5310", source="MEDGEN:kboom-pr98-c99", source="NCIT:C4153", source="MONDO:equivalentTo"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
is_a: MONDO:0005004 {source="NCIT:C40368"} ! clear cell adenocarcinoma
is_a: MONDO:0045055 {source="MONDO:Redundant", source="NCIT:C40368"} ! glycogen-rich carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189656007
property_value: closeMatch http://identifiers.org/snomedct/74280008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1512224
property_value: exactMatch DOID:5310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334319
property_value: exactMatch NCIT:C40368

[Term]
id: MONDO:0003391
name: vulvar alveolar soft part sarcoma
def: "An alveolar soft part sarcoma arising from the vulva." [NCIT:C40320]
xref: DOID:5313 {source="MONDO:equivalentTo"}
xref: NCIT:C40320 {source="DOID:5313", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1520069 {source="DOID:5313", source="MONDO:equivalentTo", source="NCIT:C40320"}
is_a: MONDO:0005214 {source="DOID:5313", source="NCIT:C40320"} ! vulva sarcoma
is_a: MONDO:0011655 {source="MONDOLEX:0003391", source="NCIT:C40320"} ! alveolar soft part sarcoma (disease)
property_value: exactMatch DOID:5313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520069
property_value: exactMatch NCIT:C40320

[Term]
id: MONDO:0003392
name: fallopian tube germ cell tumor
def: "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." [NCIT:C40130]
synonym: "fallopian tube germ cell cancer" RELATED [DOID:5324]
synonym: "fallopian tube germ cell neoplasm" EXACT [DOID:5324, NCIT:C40130]
synonym: "fallopian tube germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C40130]
xref: DOID:5324 {source="MONDO:equivalentTo"}
xref: NCIT:C40130 {source="DOID:5324", source="MONDO:equivalentTo"}
xref: UMLS:C1517114 {source="DOID:5324", source="MONDO:equivalentTo", source="NCIT:C40130"}
is_a: MONDO:0005040 {source="DOID:5324", source="MONDO:Redundant", source="MONDOLEX:0003392", source="NCIT:C40130"} ! germ cell tumor
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40130"} ! fallopian tube neoplasm
relationship: excluded_subClassOf MONDO:0002158 {source="DOID:5324"} ! fallopian tube cancer
property_value: exactMatch DOID:5324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517114
property_value: exactMatch NCIT:C40130

[Term]
id: MONDO:0003393
name: thymus gland disease
def: "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." [NCIT:C26962]
synonym: "disease of thymus" EXACT [MONDO:patterns/location_top]
synonym: "disease of thymus gland" EXACT [DOID:533]
synonym: "disease or disorder of thymus" EXACT []
synonym: "disorder of thymus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of thymus" RELATED [MONDO:patterns/location_top]
synonym: "disorder of thymus gland" EXACT []
synonym: "thymus disease" EXACT [MONDO:patterns/location]
synonym: "thymus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Thymus disorder" EXACT [NCIT:C26962]
synonym: "thymus disorder" RELATED []
xref: DOID:533 {source="MONDO:equivalentTo"}
xref: ICD10:E32 {source="DOID:533"}
xref: ICD10:E32.9 {source="DOID:533"}
xref: ICD9:254 {source="DOID:533"}
xref: ICD9:254.9 {source="DOID:533"}
xref: NCIT:C26962 {source="DOID:533", source="MONDO:equivalentTo"}
xref: SCTID:20673009 {source="DOID:533", source="MONDO:equivalentTo"}
xref: UMLS:C0154199 {source="DOID:533", source="MONDO:equivalentTo", source="NCIT:C26962"}
is_a: MONDO:0000651 {source="NCIT:C26962", source="linkedlifedata/inferred"} ! thoracic disease
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0005151 ! endocrine system disease
is_a: MONDO:0005570 ! hematologic disease
relationship: excluded_subClassOf MONDO:0005833 {source="DOID:533"} ! lymphatic system disease
property_value: closeMatch http://identifiers.org/snomedct/154703006
property_value: closeMatch http://identifiers.org/snomedct/190500009
property_value: closeMatch http://identifiers.org/snomedct/267482009
property_value: exactMatch DOID:533
property_value: exactMatch http://identifiers.org/snomedct/20673009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154199
property_value: exactMatch NCIT:C26962

[Term]
id: MONDO:0003394
name: dental pulp disease
def: "A disease involving the dental pulp." [MONDO:DesignPattern]
synonym: "dental pulp disease" EXACT [MONDO:patterns/location]
synonym: "dental pulp disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental pulp disorder" EXACT [DOID:5330, NCIT:C34530]
synonym: "disease of dental pulp" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dental pulp" EXACT []
synonym: "disorder of dental pulp" EXACT [MONDO:patterns/location_top]
synonym: "disorder of dental pulp" RELATED [MONDO:patterns/location_top]
synonym: "disorder of pulp of tooth" EXACT [DOID:5330]
synonym: "pulp disorder" EXACT [CSP2005:0834-4423, DOID:5330]
xref: DOID:5330 {source="MONDO:equivalentTo"}
xref: ICD9:522.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003788 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5330"}
xref: NCIT:C34530 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5330"}
xref: SCTID:57203004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5330"}
xref: UMLS:C0011405 {source="MONDO:equivalentTo", source="NCIT:C34530", source="DOID:5330"}
is_a: MONDO:0003900 {source="DOID:5330", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease
is_a: MONDO:0006999 {source="DOID:5330", source="MESH:D003788", source="MONDO:Redundant", source="NCIT:C34530", source="linkedlifedata"} ! tooth disease
property_value: exactMatch DOID:5330
property_value: exactMatch http://identifiers.org/mesh/D003788
property_value: exactMatch http://identifiers.org/snomedct/57203004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011405
property_value: exactMatch NCIT:C34530

[Term]
id: MONDO:0003395
name: testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." [NCIT:C6357]
synonym: "granulosa cell neoplasm of testis" RELATED [NCIT:C6357]
synonym: "granulosa cell neoplasm of the testis" RELATED [NCIT:C6357]
synonym: "granulosa cell tumor of testis" EXACT [DOID:5331, NCIT:C6357]
synonym: "granulosa cell tumor of the testis" RELATED [NCIT:C6357]
synonym: "testicular granulosa cell neoplasm" RELATED [NCIT:C6357]
synonym: "testicular granulosa cell tumor" EXACT [NCIT:C6357]
synonym: "testis granulosa cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5331 {source="MONDO:equivalentTo"}
xref: EFO:1000567 {source="MONDO:equivalentTo"}
xref: NCIT:C6357 {source="MONDO:equivalentTo", source="NCIT:C6357", source="DOID:5331"}
xref: UMLS:C1336709 {source="MONDO:equivalentTo", source="NCIT:C6357", source="DOID:5331"}
is_a: MONDO:0003125 {source="DOID:5331", source="MONDO:Redundant", source="NCIT:C6357"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0006036 {source="DOID:5331", source="MONDO:Redundant", source="NCIT:C6357"} ! granulosa cell tumor
relationship: excluded_subClassOf MONDO:0000624 {source="DOID:5331"} ! benign female reproductive system neoplasm
property_value: exactMatch DOID:5331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336709
property_value: exactMatch NCIT:C6357

[Term]
id: MONDO:0003396
name: epulis
def: "A non-neoplastic nodular lesion that arises from the gingiva." [NCIT:P378]
synonym: "epulides" EXACT [DOID:5337]
synonym: "gingiva polyp" EXACT [MONDO:patterns/location]
synonym: "gingival polyp" EXACT [DOID:5337, MTHICD9_2006:523.8]
synonym: "gum polyp" EXACT [NCIT:C3948]
synonym: "polyp of gingiva" EXACT [NCIT:C3948]
synonym: "polyp of gum" EXACT [DOID:5337, NCIT:C3948]
synonym: "polyp of the gingiva" EXACT [NCIT:C3948]
synonym: "polyp of the gum" EXACT [NCIT:C3948]
xref: DOID:5337 {source="MONDO:equivalentTo"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3948 {source="DesignPattern", source="DOID:5337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:45676007 {source="DOID:5337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0266919 {source="NCIT:C3948", source="DOID:5337", source="MONDO:equivalentTo"}
is_a: MONDO:0002507 {source="DOID:5337", source="linkedlifedata"} ! gingival overgrowth
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3948", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
property_value: closeMatch http://identifiers.org/snomedct/71708001
property_value: exactMatch DOID:5337
property_value: exactMatch http://identifiers.org/snomedct/45676007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266919
property_value: exactMatch NCIT:C3948

[Term]
id: MONDO:0003397
name: gingival hypertrophy
def: "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." [MESH:D005886]
synonym: "hypertrophy of gingivae" EXACT [DOID:5338]
xref: DOID:5338 {source="MONDO:equivalentTo"}
xref: MESH:D005886 {source="MONDO:equivalentTo", source="DOID:5338", source="MONDO:ontobio"}
xref: UMLS:C0017567 {source="MONDO:equivalentTo", source="DOID:5338"}
is_a: MONDO:0002507 {source="DOID:5338", source="MESH:D005886"} ! gingival overgrowth
property_value: closeMatch http://identifiers.org/snomedct/441787004
property_value: exactMatch DOID:5338
property_value: exactMatch http://identifiers.org/mesh/D005886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017567

[Term]
id: MONDO:0003398
name: anterograde amnesia
def: "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" [MESH:D020324]
xref: DOID:5340 {source="MONDO:equivalentTo"}
xref: ICD10:R41.1 {source="MONDO:equivalentTo", source="DOID:5340"}
xref: MESH:D020324 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5340"}
is_a: MONDO:0001152 {source="DOID:5340"} ! amnestic disorder
property_value: closeMatch http://identifiers.org/snomedct/206789002
property_value: closeMatch http://identifiers.org/snomedct/88822006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0233795
property_value: exactMatch DOID:5340
property_value: exactMatch http://identifiers.org/mesh/D020324

[Term]
id: MONDO:0003399
name: pineal region yolk sac tumor
def: "A yolk sac tumor that involves the pineal body." [MONDO:patterns/location]
synonym: "endodermal sinus tumor of pineal region" RELATED [NCIT:C6752]
synonym: "endodermal sinus tumor of the pineal region" RELATED [NCIT:C6752]
synonym: "pineal body yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "pineal endodermal sinus neoplasm" RELATED [NCIT:C6752]
synonym: "pineal endodermal sinus tumor" RELATED [NCIT:C6752]
synonym: "pineal region endodermal sinus neoplasm" RELATED [NCIT:C6752]
synonym: "pineal region endodermal sinus tumor" RELATED [NCIT:C6752]
synonym: "pineal region yolk Sac neoplasm" EXACT [DOID:5341, NCIT:C6752]
synonym: "pineal region yolk sac tumor" EXACT [NCIT:C6752]
synonym: "yolk Sac tumor of pineal region" RELATED [NCIT:C6752]
synonym: "yolk Sac tumor of the pineal region" RELATED [NCIT:C6752]
xref: DOID:5341 {source="MONDO:equivalentTo"}
xref: NCIT:C6752 {source="MONDO:equivalentTo", source="NCIT:C6752", source="DOID:5341"}
xref: UMLS:C1335420 {source="MONDO:equivalentTo", source="NCIT:C6752", source="DOID:5341"}
is_a: MONDO:0002073 {source="DOID:5341", source="MONDO:Redundant", source="NCIT:C6752"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0003401 ! central nervous system endodermal sinus tumor
property_value: exactMatch DOID:5341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335420
property_value: exactMatch NCIT:C6752

[Term]
id: MONDO:0003400
name: childhood endodermal sinus tumor
def: "A yolk sac tumor that occurs during childhood." [NCIT:C27364]
synonym: "childhood endodermal sinus neoplasm" EXACT [DOID:5342, NCIT:C27364]
synonym: "childhood endodermal sinus tumor" EXACT [NCIT:C27364]
synonym: "childhood yolk Sac neoplasm" RELATED [NCIT:C27364]
synonym: "childhood yolk Sac tumor" RELATED [NCIT:C27364]
synonym: "pediatric endodermal sinus neoplasm" RELATED [NCIT:C27364]
synonym: "pediatric yolk Sac neoplasm" RELATED [NCIT:C27364]
synonym: "pediatric yolk Sac tumor" EXACT [DOID:5342, NCIT:C27364]
xref: DOID:5342 {source="MONDO:equivalentTo"}
xref: NCIT:C27364 {source="NCIT:C27364", source="MONDO:equivalentTo", source="DOID:5342"}
xref: UMLS:C1333016 {source="NCIT:C27364", source="MONDO:equivalentTo", source="DOID:5342"}
is_a: MONDO:0004479 {source="NCIT:C27364"} ! malignant childhood germ cell neoplasm
is_a: MONDO:0005744 {source="DOID:5342", source="NCIT:C27364"} ! yolk sac tumor
property_value: exactMatch DOID:5342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333016
property_value: exactMatch NCIT:C27364

[Term]
id: MONDO:0003401
name: central nervous system endodermal sinus tumor
def: "A yolk sac tumor that arises from the central nervous system and occurs during childhood." [NCIT:C6209]
synonym: "central nervous system endodermal sinus tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system yolk Sac tumor" EXACT [NCIT:C6209]
synonym: "central nervous system yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [DOID:5343, NCIT:C6209]
synonym: "childhood central nervous system endodermal sinus tumor" EXACT [NCIT:C6209]
synonym: "childhood central nervous system yolk Sac neoplasm" EXACT [NCIT:C6209]
synonym: "childhood central nervous system yolk Sac tumor" EXACT [NCIT:C6209]
synonym: "pediatric central nervous system endodermal sinus neoplasm" EXACT [NCIT:C6209]
synonym: "pediatric central nervous system endodermal sinus tumor" EXACT [NCIT:C6209]
synonym: "pediatric central nervous system yolk Sac neoplasm" EXACT [NCIT:C6209]
synonym: "pediatric central nervous system yolk Sac tumor" EXACT [DOID:5343, NCIT:C6209]
synonym: "yolk Sac tumor of the CNS" EXACT [DOID:5343, NCIT:C7011]
xref: DOID:5343 {source="MONDO:equivalentTo"}
xref: NCIT:C6209 {source="DOID:5343", source="MONDO:equivalentTo"}
is_a: MONDO:0002714 ! central nervous system cancer
is_a: MONDO:0003400 {source="NCIT:C6209"} ! childhood endodermal sinus tumor
is_a: MONDO:0003750 ! childhood central nervous system germ cell tumor
is_a: MONDO:0016739 {source="MONDOLEX:0003401", source="NCIT:C6209"} ! yolk sac tumor of central nervous system
is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1337040
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377613
property_value: exactMatch DOID:5343
property_value: exactMatch NCIT:C6209

[Term]
id: MONDO:0003402
name: testicular yolk sac tumor
def: "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." [NCIT:C8000]
subset: gard_rare
synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus tumor of the testis" RELATED [NCIT:C8000]
synonym: "endodermal-sinus tumor" RELATED [GARD:0000348]
synonym: "Orchidoblastoma" RELATED [GARD:0000348]
synonym: "testicular endodermal sinus neoplasm" RELATED [NCIT:C8000]
synonym: "testicular endodermal sinus tumor" RELATED [NCIT:C8000]
synonym: "testicular yolk Sac neoplasm" EXACT [DOID:5344, NCIT:C8000]
synonym: "testicular yolk sac tumor" EXACT [MONDO:0006449, NCIT:C8000]
synonym: "testis yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "yolk Sac neoplasm of testis" RELATED [NCIT:C8000]
synonym: "yolk Sac neoplasm of the testis" RELATED [NCIT:C8000]
synonym: "yolk sac tumor" RELATED [ONCOTREE:TYST]
synonym: "yolk Sac tumor of testis" RELATED [NCIT:C8000]
synonym: "yolk Sac tumor of the testis" RELATED [NCIT:C8000]
xref: DOID:5344 {source="MONDO:equivalentTo"}
xref: EFO:1000574 {source="MONDO:equivalentTo"}
xref: GARD:0000348 {source="MONDO:equivalentTo"}
xref: NCIT:C8000 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo", source="EFO:1000574"}
xref: ONCOTREE:TYST {source="MONDO:equivalentTo"}
xref: UMLS:C0279708 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo"}
is_a: MONDO:0002874 {source="NCIT:C8000"} ! testicular pure germ cell tumor
is_a: MONDO:0003403 {source="DOID:5344", source="NCIT:C8000"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C8000"} ! yolk sac tumor
property_value: exactMatch DOID:5344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279708
property_value: exactMatch NCIT:C8000

[Term]
id: MONDO:0003403
name: testicular non-seminomatous germ cell cancer
def: "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." [NCIT:C5027]
comment: Editor note: TODO owldef
synonym: "malignant non-seminomatous germ cell cancer of testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell cancer of the testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell neoplasm of testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell neoplasm of the testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT [DOID:5345, NCIT:C5027]
synonym: "malignant non-seminomatous germ cell tumor of the testis" EXACT [NCIT:C5027]
synonym: "malignant testicular non-seminomatous germ cell neoplasm" EXACT [NCIT:C5027]
synonym: "malignant testicular non-seminomatous germ cell tumor" EXACT [NCIT:C5027]
synonym: "testicular germ cell tumor non-seminomatous, malignant" EXACT [MONDO:patterns/malignant]
synonym: "testicular non-seminomatous germ cell cancer" EXACT [NCIT:C5027]
synonym: "testicular non-seminomatous germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "testicular non-seminomatous malignant germ cell neoplasm" EXACT [NCIT:C5027]
synonym: "testicular nonseminomat. GCT, NOS" RELATED EXCLUDE [NCIT:C5027]
synonym: "testicular nonseminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C5027]
xref: DOID:5345 {source="MONDO:equivalentTo"}
xref: NCIT:C5027 {source="DOID:5345", source="MONDO:equivalentTo"}
xref: UMLS:C1334625 {source="DOID:5345", source="MONDO:equivalentTo", source="NCIT:C5027"}
is_a: MONDO:0003510 {source="DOID:5345", source="MONDO:Redundant", source="NCIT:C5027"} ! malignant testicular germ cell tumor
is_a: MONDO:0006447 {source="MONDO:Redundant", source="MONDOLEX:0003403", source="NCIT:C5027"} ! testicular non-seminomatous germ cell tumor
property_value: exactMatch DOID:5345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334625
property_value: exactMatch NCIT:C5027

[Term]
id: MONDO:0003404
name: adult yolk sac tumor
def: "A yolk sac tumor that occurs in an adult." [MONDO:design_pattern]
synonym: "adult endodermal sinus neoplasm" EXACT [DOID:5348, NCIT:C27241]
synonym: "adult endodermal sinus tumor" EXACT [NCIT:C27241]
synonym: "adult yolk Sac neoplasm" EXACT [DOID:5348, NCIT:C27241]
synonym: "adult yolk Sac tumor" EXACT [NCIT:C27241]
synonym: "yolk Sac tumor" EXACT [NCIT:C27241]
synonym: "yolk sac tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5348 {source="MONDO:equivalentTo"}
xref: NCIT:C27241 {source="DOID:5348", source="MONDO:equivalentTo"}
xref: UMLS:C1332221 {source="NCIT:C27241", source="DOID:5348", source="MONDO:equivalentTo"}
is_a: MONDO:0005744 {source="DOID:5348", source="MONDO:Redundant", source="NCIT:C27241"} ! yolk sac tumor
is_a: MONDO:0044878 ! adult germ cell tumor
property_value: exactMatch DOID:5348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332221
property_value: exactMatch NCIT:C27241

[Term]
id: MONDO:0003405
name: adult central nervous system germ cell tumor
def: "A germ cell tumor of the central nervous system occurring in adults." [NCIT:C6285]
synonym: "adult central nervous system germ cell neoplasm" EXACT [NCIT:C6285]
synonym: "adult central nervous system germ cell tumor" EXACT [NCIT:C6285]
synonym: "adult CNS germ cell neoplasm" EXACT [NCIT:C6285]
synonym: "adult CNS germ cell tumor" EXACT [NCIT:C6285]
synonym: "central nervous system adult germ cell tumor" RELATED [DOID:5349]
synonym: "central nervous system germ cell tumor" EXACT [NCIT:C6285]
synonym: "central nervous system germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "germ cell neoplasm of adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of the adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of the adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell tumor of adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell tumor of adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell tumor of the adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell tumor of the adult CNS" EXACT [DOID:5349, NCIT:C6285]
xref: DOID:5349 {source="MONDO:equivalentTo"}
xref: NCIT:C6285 {source="MONDO:equivalentTo", source="DOID:5349"}
xref: UMLS:C0280796 {source="NCIT:C6285", source="MONDO:equivalentTo", source="DOID:5349"}
is_a: MONDO:0003000 {source="DOID:5349", source="MONDO:Redundant", source="MONDOLEX:0003405", source="NCIT:C6285"} ! central nervous system germ cell tumor
is_a: MONDO:0044878 {source="MONDO:Redundant", source="NCIT:C6285"} ! adult germ cell tumor
property_value: exactMatch DOID:5349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280796
property_value: exactMatch NCIT:C6285

[Term]
id: MONDO:0003406
name: sleep-wake disorder
def: "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." [MESH:D012893]
synonym: "circadian dysregulation" RELATED []
synonym: "disorder of sleep-wake cycle" EXACT []
synonym: "disorder of sleep-wake schedule" RELATED []
synonym: "disorder, sleep" RELATED [MESH:D012893]
synonym: "disorder, sleep wake" RELATED [MESH:D012893]
synonym: "disorders of the sleep-wake schedule" RELATED []
synonym: "disorders, sleep" RELATED [MESH:D012893]
synonym: "disorders, sleep wake" RELATED [MESH:D012893]
synonym: "disturbed nyctohemeral rhythm" RELATED []
synonym: "long sleeper syndrome" RELATED [MESH:D012893]
synonym: "long sleeper syndromes" RELATED [MESH:D012893]
synonym: "neurogenic tachypnea, sleep-related" RELATED [MESH:D012893]
synonym: "neurogenic Tachypneas, sleep-related" RELATED [MESH:D012893]
synonym: "non-organic sleep disorder" RELATED [DOID:535]
synonym: "phenotype, short sleep" RELATED [MESH:D012893]
synonym: "phenotypes, short sleep" RELATED [MESH:D012893]
synonym: "short sleep phenotype" RELATED [MESH:D012893]
synonym: "short sleep phenotypes" RELATED [MESH:D012893]
synonym: "short sleeper syndrome" RELATED [MESH:D012893]
synonym: "short sleeper syndromes" RELATED [MESH:D012893]
synonym: "sleep disorder" RELATED [MESH:D012893]
synonym: "sleep disorders" RELATED [MESH:D012893]
synonym: "sleep phenotypes, short" RELATED [MESH:D012893]
synonym: "sleep related neurogenic tachypnea" RELATED [MESH:D012893]
synonym: "sleep wake disorder" EXACT [MESH:D012893]
synonym: "sleep-related neurogenic tachypnea" RELATED [MESH:D012893]
synonym: "sleep-related neurogenic Tachypneas" RELATED [MESH:D012893]
synonym: "sleeper syndrome, long" RELATED [MESH:D012893]
synonym: "sleeper syndrome, short" RELATED [MESH:D012893]
synonym: "sleeper syndromes, long" RELATED [MESH:D012893]
synonym: "sleeper syndromes, short" RELATED [MESH:D012893]
synonym: "Subwakefullness syndrome" RELATED [MESH:D012893]
synonym: "Subwakefullness syndromes" RELATED [MESH:D012893]
synonym: "syndrome, long sleeper" RELATED [MESH:D012893]
synonym: "syndrome, short sleeper" RELATED [MESH:D012893]
synonym: "syndrome, Subwakefullness" RELATED [MESH:D012893]
synonym: "syndromes, long sleeper" RELATED [MESH:D012893]
synonym: "syndromes, short sleeper" RELATED [MESH:D012893]
synonym: "syndromes, Subwakefullness" RELATED [MESH:D012893]
synonym: "tachypnea, sleep-related neurogenic" RELATED [MESH:D012893]
synonym: "Tachypneas, sleep-related neurogenic" RELATED [MESH:D012893]
synonym: "wake disorder, sleep" RELATED [MESH:D012893]
synonym: "wake disorders, sleep" RELATED [MESH:D012893]
xref: DOID:535 {source="MONDO:equivalentTo"}
xref: EFO:0008568 {source="MONDO:equivalentTo"}
xref: ICD10:G47 {source="MONDO:equivalentTo"}
xref: ICD9:307.4 {source="DOID:535"}
xref: ICD9:307.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:307.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012893 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:39898005 {source="MONDO:equivalentTo"}
is_a: MONDO:0100081 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! sleep disorder
relationship: excluded_subClassOf MONDO:0002025 {source="MESH:D012893"} ! psychiatric disorder
relationship: excluded_subClassOf MONDO:0005071 {source="EFO:0008568/inferred", source="ICD10:G47/inferred", source="MESH:D012893", source="MESH:D012893/inferred"} ! nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154564
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0851578
property_value: exactMatch DOID:535
property_value: exactMatch http://identifiers.org/mesh/D012893
property_value: exactMatch http://identifiers.org/snomedct/39898005

[Term]
id: MONDO:0003407
name: obsolete ovarian yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0006344

[Term]
id: MONDO:0003408
name: ovarian primitive germ cell tumor
def: "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." [NCIT:C39986]
synonym: "ovarian primitive germ cell tumor" EXACT [NCIT:C39986]
xref: DOID:5351 {source="MONDO:equivalentTo"}
xref: NCIT:C39986 {source="MONDO:equivalentTo", source="DOID:5351", source="exact-label-match"}
xref: UMLS:C1518727 {source="MONDO:equivalentTo", source="NCIT:C39986", source="DOID:5351"}
is_a: MONDO:0018171 {source="DOID:5351", source="NCIT:C39986"} ! malignant germ cell tumor of ovary
property_value: exactMatch DOID:5351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518727
property_value: exactMatch NCIT:C39986

[Term]
id: MONDO:0003409
name: colonic disease
def: "Pathological processes in the colon region of the large intestine (intestine, large)." [MESH:D003108]
synonym: "colon disease" EXACT [MONDO:patterns/location]
synonym: "colon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "colon disorder" EXACT [CSP2005:1248-3971, DOID:5353]
synonym: "disease of colon" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of colon" EXACT []
synonym: "disorder of colon" EXACT [MONDO:patterns/location_top]
synonym: "disorder of colon" RELATED [MONDO:patterns/location_top]
xref: DOID:5353 {source="MONDO:equivalentTo"}
xref: MESH:D003108 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5353"}
xref: SCTID:128524007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo", source="DOID:5353"}
xref: UMLS:C0009373 {source="MONDO:equivalentTo", source="DOID:5353"}
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch DOID:5353
property_value: exactMatch http://identifiers.org/mesh/D003108
property_value: exactMatch http://identifiers.org/snomedct/128524007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009373

[Term]
id: MONDO:0003410
name: Wolffian duct adenocarcinoma
def: "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." [NCIT:C40254]
synonym: "cervical mesonephric adenocarcinoma" EXACT [NCIT:C40254]
synonym: "mesonephric duct adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Wolffian duct adenocarcinoma" EXACT [NCIT:C40254]
xref: DOID:5368 {source="MONDO:equivalentTo"}
xref: NCIT:C40254 {source="DOID:5368", source="MONDO:equivalentTo"}
xref: UMLS:C1516419 {source="DOID:5368", source="MONDO:equivalentTo", source="NCIT:C40254"}
is_a: MONDO:0005086 ! renal cell carcinoma (disease)
is_a: MONDO:0005153 {source="DOID:5368", source="NCIT:C40254"} ! cervical adenocarcinoma
is_a: MONDO:0005613 {source="MONDOLEX:0003410", source="NCIT:C40254"} ! mesonephric adenocarcinoma
is_a: MONDO:0024888 ! mesonephric neoplasm
property_value: exactMatch DOID:5368
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516419
property_value: exactMatch NCIT:C40254

[Term]
id: MONDO:0003411
name: breast hemangiopericytoma
def: "A hemangiopericytoma arising from the breast." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "breast hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "breast spindle cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5370 {source="MONDO:equivalentTo"}
xref: NCIT:C40396 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:5370"}
xref: UMLS:C1511313 {source="MONDO:equivalentTo", source="DOID:5370", source="NCIT:C40396"}
is_a: MONDO:0005094 {source="DOID:5370", source="MONDO:Redundant", source="NCIT:C40396"} ! hemangiopericytoma
is_a: MONDO:0021100 ! breast neoplasm
relationship: excluded_subClassOf MONDO:0002490 {source="DOID:5370"} ! breast sarcoma
property_value: exactMatch DOID:5370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511313
property_value: exactMatch NCIT:C40396

[Term]
id: MONDO:0003412
name: retroperitoneal hemangiopericytoma
def: "A benign or malignant hemangiopericytoma arising from the retroperitoneum." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "retroperitoneal space hemangiopericytoma" EXACT [MONDO:patterns/location]
xref: DOID:5373 {source="MONDO:equivalentTo"}
xref: NCIT:C5386 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5373"}
xref: UMLS:C1335777 {source="NCIT:C5386", source="MONDO:equivalentTo", source="DOID:5373"}
is_a: MONDO:0005094 {source="DOID:5373", source="MONDO:Redundant", source="NCIT:C5386"} ! hemangiopericytoma
is_a: MONDO:0024645 ! retroperitoneal neoplasm
property_value: exactMatch DOID:5373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335777
property_value: exactMatch NCIT:C5386

[Term]
id: MONDO:0003413
name: hair follicle neoplasm
def: "A benign or malignant neoplasm arising from the hair follicle." [NCIT:C7367]
synonym: "hair follicle neoplasm" EXACT [NCIT:C7367]
synonym: "hair follicle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hair follicle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7367]
synonym: "hair matrix neoplasm" RELATED [DOID:5375, NCIT:C7367]
synonym: "hair matrix tumor" RELATED [NCIT:C7367]
synonym: "hair matrix tumour" RELATED [DOID:5375]
synonym: "neoplasm of hair follicle" EXACT [MONDO:patterns/neoplasm, NCIT:C7367]
synonym: "neoplasm of the hair follicle" EXACT [NCIT:C7367]
synonym: "tumor of hair follicle" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5375 {source="MONDO:equivalentTo"}
xref: NCIT:C7367 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5375"}
xref: UMLS:C0859920 {source="NCIT:C7367", source="MONDO:equivalentTo", source="DOID:5375"}
is_a: MONDO:0002297 {source="NCIT:C7367"} ! epidermal appendage tumor
is_a: MONDO:0002917 {source="MONDO:Redundant", source="NCIT:C7367"} ! disease of pilosebaceous unit
property_value: closeMatch http://identifiers.org/snomedct/44155009
property_value: exactMatch DOID:5375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859920
property_value: exactMatch NCIT:C7367

[Term]
id: MONDO:0003414
name: skin pilomatrix carcinoma
def: "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." [NCIT:P378]
subset: ordo_disease
synonym: "calcified epithelial carcinoma of Malherbe" EXACT [Orphanet:499182]
synonym: "calcifying epitheliocarcinoma" EXACT [Orphanet:499182]
synonym: "invasive pilomatrixoma" EXACT [NCIT:C4114]
synonym: "malignant pilomatricoma" EXACT [DOID:5376, NCIT:C4114, Orphanet:499182]
synonym: "matrical carcinoma" EXACT [NCIT:C4114]
synonym: "Pilomatrical carcinoma" EXACT [NCIT:C4114]
synonym: "pilomatricoma, malignant" EXACT [DOID:5376]
synonym: "pilomatrix carcinoma" EXACT [NCIT:C4114]
synonym: "pilomatrix carcinoma of skin" EXACT [DOID:5376, NCIT:C4114]
synonym: "pilomatrix carcinoma of the skin" EXACT [NCIT:C4114]
synonym: "pilomatrix skin carcinoma" EXACT [NCIT:C4114]
synonym: "Trichomatrical carcinoma" EXACT [Orphanet:499182]
xref: DOID:5376 {source="MONDO:equivalentTo"}
xref: ICD10:C44.3 {source="Orphanet:499182"}
xref: ICD10:C44.4 {source="Orphanet:499182"}
xref: ICDO:8110/3 {source="NCIT:C4114"}
xref: NCIT:C4114 {source="DOID:5376", source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: Orphanet:499182 {source="MONDO:equivalentTo"}
xref: SCTID:307610008 {source="DOID:5376", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0585475 {source="DOID:5376", source="MONDO:equivalentTo", source="NCIT:C4114"}
is_a: MONDO:0006973 {source="NCIT:C4114"} ! skin appendage carcinoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:499182"} ! obsolete rare skin tumor or hamartoma
relationship: has_modifier MONDO:0021136 {source="https://orcid.org/0000-0002-6195-6976"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/24762001
property_value: exactMatch DOID:5376
property_value: exactMatch http://identifiers.org/snomedct/307610008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585475
property_value: exactMatch NCIT:C4114
property_value: exactMatch Orphanet:499182

[Term]
id: MONDO:0003415
name: obsolete hemoglobin d disease
is_obsolete: true
replaced_by: MONDO:0019537

[Term]
id: MONDO:0003416
name: obsolete hemoglobin E disease
is_obsolete: true
replaced_by: MONDO:0016243

[Term]
id: MONDO:0003417
name: internuclear ophthalmoplegia
xref: COHD:376698 {source="MONDO:equivalentTo"}
xref: DOID:538 {source="MONDO:equivalentTo"}
xref: ICD10:H51.2 {source="DOID:538", source="MONDO:equivalentTo"}
xref: ICD9:378.86 {source="DOID:538", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:49823009 {source="DOID:538", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152134 {source="DOID:538", source="MONDO:equivalentTo"}
is_a: MONDO:0003425 {source="DOID:538", source="MONDOLEX:0003417"} ! ophthalmoplegia
is_a: MONDO:0003432 {source="DOID:538", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: closeMatch http://identifiers.org/mesh/D015835
property_value: exactMatch DOID:538
property_value: exactMatch http://identifiers.org/snomedct/49823009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152134

[Term]
id: MONDO:0003418
name: obsolete bile duct adenoma
is_obsolete: true
replaced_by: MONDO:0006108

[Term]
id: MONDO:0003419
name: Bartholin gland adenoma
def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells." [NCIT:P378]
synonym: "Bartholin gland adenoma" EXACT [DOID:5382, NCIT:C40299]
synonym: "Bartholin's gland adenoma" EXACT [NCIT:C40299]
synonym: "major vestibular gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5382 {source="MONDO:equivalentTo"}
xref: NCIT:C40299 {source="MONDO:equivalentTo", source="DOID:5382", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1511048 {source="MONDO:equivalentTo", source="DOID:5382", source="NCIT:C40299"}
is_a: MONDO:0002193 {source="DOID:5382"} ! Bartholin gland benign neoplasm
is_a: MONDO:0002198 {source="NCIT:C40299"} ! vulvar glandular neoplasm
is_a: MONDO:0004972 {source="DOID:5382", source="MONDO:Redundant", source="NCIT:C40299"} ! adenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:5382
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511048
property_value: exactMatch NCIT:C40299

[Term]
id: MONDO:0003420
name: bile duct cystadenoma
def: "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." [NCIT:P378]
synonym: "bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C4129]
synonym: "bile duct cystadenoma (morphologic abnormality)" EXACT [DOID:5384]
synonym: "bile duct mucinous cystic neoplasm" EXACT [NCIT:C4129]
synonym: "cystadenoma of bile duct" EXACT [NCIT:C4129]
synonym: "cystadenoma of the bile duct" EXACT [DOID:5384, NCIT:C4129]
xref: DOID:5384 {source="MONDO:equivalentTo"}
xref: ICDO:8161/0 {source="NCIT:C4129"}
xref: NCIT:C4129 {source="MONDO:kboom-pr-0.96/0.91/0.53", source="MONDO:equivalentTo", source="DOID:5384"}
xref: UMLS:C0334285 {source="MONDO:equivalentTo", source="DOID:5384", source="NCIT:C4129"}
is_a: MONDO:0002369 {source="DOID:5384", source="MONDO:Redundant", source="MONDOLEX:0003420"} ! cystadenoma
is_a: MONDO:0006108 {source="DOID:5384", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct adenoma
property_value: closeMatch http://identifiers.org/snomedct/83025009
property_value: exactMatch DOID:5384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334285
property_value: exactMatch NCIT:C4129

[Term]
id: MONDO:0003421
name: mixed cell adenoma
def: "An adenoma characterized by the presence of a mixed epithelial cell population." [NCIT:C4157]
synonym: "mixed cell adenoma" EXACT [NCIT:C4157]
xref: DOID:5385 {source="MONDO:equivalentTo"}
xref: ICDO:8323/0 {source="NCIT:C4157"}
xref: NCIT:C4157 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5385"}
xref: UMLS:C0334323 {source="MONDO:equivalentTo", source="NCIT:C4157", source="DOID:5385"}
is_a: MONDO:0004972 {source="DOID:5385", source="NCIT:C4157"} ! adenoma
is_a: MONDO:0021043 {source="NCIT:C4157"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/89773001
property_value: exactMatch DOID:5385
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334323
property_value: exactMatch NCIT:C4157

[Term]
id: MONDO:0003422
name: lung adenoma
def: "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma." [NCIT:C4455]
synonym: "adenoma of lung" EXACT [DOID:5386, NCIT:C4455]
synonym: "adenoma of the lung" EXACT [NCIT:C4455]
synonym: "lung adenoma" EXACT [MONDO:patterns/location, NCIT:C4455]
synonym: "pulmonary adenoma" EXACT [DOID:5386, NCIT:C4455]
xref: DOID:5386 {source="MONDO:equivalentTo"}
xref: NCIT:C4455 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5386"}
xref: SCTID:254642004 {source="MONDO:equivalentTo", source="DOID:5386"}
xref: UMLS:C0345964 {source="MONDO:equivalentTo", source="NCIT:C4455", source="DOID:5386"}
is_a: MONDO:0002732 {source="DOID:5386", source="NCIT:C4455"} ! lung benign neoplasm
is_a: MONDO:0004972 {source="DOID:5386", source="MONDO:Redundant", source="NCIT:C4455", source="linkedlifedata"} ! adenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:5386
property_value: exactMatch http://identifiers.org/snomedct/254642004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345964
property_value: exactMatch NCIT:C4455

[Term]
id: MONDO:0003423
name: middle ear adenoma
def: "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." [NCIT:P378]
synonym: "adenoma of middle ear" RELATED [DOID:5387]
synonym: "adenoma of the middle ear" EXACT [DOID:5387, NCIT:C6834]
synonym: "middle ear adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5387 {source="MONDO:equivalentTo"}
xref: NCIT:C6834 {source="DOID:5387", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:734078009 {source="MONDO:equivalentTo"}
xref: UMLS:C1334759 {source="DOID:5387", source="MONDO:equivalentTo", source="NCIT:C6834"}
is_a: MONDO:0004972 {source="DOID:5387", source="MONDO:Redundant", source="NCIT:C6834"} ! adenoma
is_a: MONDO:0021482 {source="MONDO:Redundant", source="NCIT:C6834"} ! benign neoplasm of middle ear
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:5387
property_value: exactMatch http://identifiers.org/snomedct/734078009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334759
property_value: exactMatch NCIT:C6834

[Term]
id: MONDO:0003424
name: oncocytic adenoma
def: "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." [NCIT:C3759]
synonym: "follicular adenoma, oxyphilic cell" EXACT [DOID:5389]
synonym: "oncocytic adenoma" EXACT [NCIT:C3759]
synonym: "oncocytoma" EXACT [DOID:5389, NCIT:C3759]
synonym: "oxyphilic adenoma" EXACT [NCIT:C3759]
xref: DOID:5389 {source="MONDO:equivalentTo"}
xref: EFO:1001079 {source="MONDO:equivalentTo"}
xref: ICDO:8290/0 {source="NCIT:C3759"}
xref: NCIT:C3759 {source="NCIT:C3759", source="DOID:5389", source="MONDO:equivalentTo"}
xref: UMLS:C1510502 {source="NCIT:C3759", source="MEDGEN:kboom-pr98-c99", source="DOID:5389", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C3759", source="OWLReasoner:2017"} ! adenoma
is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C3759", source="OWLReasoner:2017"} ! oncocytic neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: MONDO:0010795 ! oncocytic neoplasm
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:5389"} ! benign endocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D018249
property_value: closeMatch http://identifiers.org/snomedct/89439007
property_value: exactMatch DOID:5389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510502
property_value: exactMatch NCIT:C3759

[Term]
id: MONDO:0003425
name: ophthalmoplegia
def: "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." [NCIT:P378]
synonym: "oculomotor paralysis" RELATED [CSP2005:1115-2778, DOID:539]
synonym: "total ophthalmoplegia" EXACT [DOID:539]
xref: DOID:539 {source="MONDO:equivalentTo"}
xref: ICD9:378.56 {source="MONDO:equivalentTo", source="DOID:539", source="i2s"}
xref: MESH:D009886 {source="MONDO:equivalentTo", source="DOID:539", source="MONDO:ontobio"}
xref: SCTID:78097002 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo", source="DOID:539"}
is_a: MONDO:0001584 {source="DOID:539", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease
is_a: MONDO:0006496 {source="MESH:D009886"} ! palsy
property_value: closeMatch http://identifiers.org/snomedct/155196009
property_value: closeMatch http://identifiers.org/snomedct/16110005
property_value: closeMatch http://identifiers.org/snomedct/267745004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029089
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155338
property_value: exactMatch DOID:539
property_value: exactMatch http://identifiers.org/mesh/D009886
property_value: exactMatch http://identifiers.org/snomedct/78097002
property_value: exactMatch NCIT:C79697

[Term]
id: MONDO:0003426
name: clear cell adenoma
def: "A benign neoplasm composed of glands containing epithelial clear cells." [NCIT:C4151]
synonym: "adenoma, clear cell, benign" EXACT [NCIT:C4151]
synonym: "clear cell adenoma" EXACT [NCIT:C4151]
synonym: "clear cell adenoma (morphologic abnormality)" EXACT [DOID:5390]
xref: DOID:5390 {source="MONDO:equivalentTo"}
xref: ICDO:8310/0 {source="NCIT:C4151"}
xref: NCIT:C4151 {source="MONDO:equivalentTo", source="DOID:5390", source="exact-label-match"}
xref: UMLS:C0334315 {source="NCIT:C4151", source="MONDO:equivalentTo", source="DOID:5390"}
is_a: MONDO:0004972 {source="DOID:5390", source="NCIT:C4151"} ! adenoma
property_value: closeMatch http://identifiers.org/snomedct/1752006
property_value: exactMatch DOID:5390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334315
property_value: exactMatch NCIT:C4151

[Term]
id: MONDO:0003427
name: bronchus adenoma
def: "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." [NCIT:C3494]
synonym: "adenoma of bronchus" EXACT [NCIT:C3494]
synonym: "adenoma of the bronchus" EXACT [DOID:5391, NCIT:C3494]
synonym: "adenoma, bronchial, benign" EXACT [NCIT:C3494]
synonym: "bronchial adenoma" EXACT [DOID:5391, NCIT:C3494]
synonym: "bronchial adenoma NOS (morphologic abnormality)" EXACT [DOID:5391]
synonym: "bronchial adenoma, NOS" RELATED EXCLUDE [DOID:5391]
synonym: "bronchus adenoma" EXACT [MONDO:patterns/location]
synonym: "lung papillary adenoma" EXACT [NCIT:C3494]
synonym: "papillary adenoma of type II pneumocytes" EXACT [NCIT:C3494]
synonym: "peripheral papillary tumor of type II pneumocytes" EXACT [NCIT:C3494]
synonym: "type II pneumocyte adenoma" EXACT [NCIT:C3494]
xref: DOID:5391 {source="MONDO:equivalentTo"}
xref: ICDO:8260/0 {source="NCIT:C3494"}
xref: NCIT:C3494 {source="MONDO:equivalentTo", source="DOID:5391"}
xref: UMLS:C0149845 {source="NCIT:C3494", source="MONDO:equivalentTo", source="DOID:5391"}
is_a: MONDO:0002533 {source="MONDO:Redundant", source="MONDOLEX:0003427", source="NCIT:C3494"} ! papillary adenoma
is_a: MONDO:0002807 ! bronchial neoplasm (disease)
is_a: MONDO:0003422 {source="DOID:5391", source="NCIT:C3494"} ! lung adenoma
property_value: closeMatch http://identifiers.org/snomedct/189617001
property_value: closeMatch http://identifiers.org/snomedct/24482001
property_value: exactMatch DOID:5391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149845
property_value: exactMatch NCIT:C3494

[Term]
id: MONDO:0003428
name: brain hemangioma
def: "A hemangioma arising from the brain." [NCIT:C7739]
synonym: "brain angioma" EXACT [NCIT:C7739]
synonym: "brain hemangioma" EXACT [NCIT:C7739]
xref: DOID:5393 {source="MONDO:equivalentTo"}
xref: NCIT:C7739 {source="MONDO:equivalentTo", source="DOID:5393"}
xref: UMLS:C0238814 {source="MONDO:equivalentTo", source="DOID:5393", source="NCIT:C7739"}
is_a: MONDO:0002328 {source="DOID:5393", source="NCIT:C7739"} ! intracranial hemangioma
property_value: exactMatch DOID:5393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238814
property_value: exactMatch NCIT:C7739

[Term]
id: MONDO:0003429
name: functioning pituitary gland adenoma
def: "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." [NCIT:C8388]
subset: ordo_group_of_disorders {source="Orphanet:314753"}
synonym: "endocrine active pituitary adenoma" EXACT [Orphanet:314753]
synonym: "functioning adenoma of pituitary" EXACT [NCIT:C8388]
synonym: "functioning adenoma of pituitary gland" EXACT [NCIT:C8388]
synonym: "functioning adenoma of the pituitary" EXACT [NCIT:C8388]
synonym: "functioning adenoma of the pituitary gland" EXACT [NCIT:C8388]
synonym: "functioning pituitary adenoma" EXACT [MONDO:0017821, NCIT:C8388]
synonym: "functioning pituitary gland adenoma" EXACT [NCIT:C8388]
synonym: "functioning pituitary gland adenoma (benign)" EXACT [NCIT:C8388]
synonym: "secreting pituitary adenoma" EXACT [Orphanet:314753]
synonym: "secretory adenoma of pituitary" EXACT [NCIT:C8388]
synonym: "secretory adenoma of pituitary gland" EXACT [NCIT:C8388]
synonym: "secretory adenoma of the pituitary" EXACT [NCIT:C8388]
synonym: "secretory adenoma of the pituitary gland" EXACT [DOID:5395, NCIT:C8388]
synonym: "secretory pituitary adenoma" EXACT [NCIT:C8388]
synonym: "secretory pituitary gland adenoma" EXACT [NCIT:C8388]
xref: DOID:5395 {source="MONDO:equivalentTo"}
xref: NCIT:C8388 {source="kboom:pr0.83-conf11.09", source="MONDO:equivalentTo", source="DOID:5395"}
xref: Orphanet:314753 {source="MONDO:equivalentTo"}
xref: UMLS:C0854486 {source="Orphanet:314753", source="MEDGEN:kboom-pr98-c99", source="NCIT:C8388", source="MONDO:equivalentTo", source="DOID:5395"}
is_a: MONDO:0003604 {source="MONDO:Redundant", source="NCIT:C8388"} ! functioning pituitary gland neoplasm
is_a: MONDO:0006373 {source="DOID:5395", source="MONDO:Redundant", source="MONDOLEX:0003429", source="NCIT:C8388", source="Orphanet:314753"} ! pituitary gland adenoma
property_value: exactMatch DOID:5395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854486
property_value: exactMatch NCIT:C8388
property_value: exactMatch Orphanet:314753

[Term]
id: MONDO:0003430
name: prolactin producing pituitary tumor
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." [NCIT:P378]
synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [DOID:5396]
synonym: "malignant prolactinoma" EXACT [DOID:5396, NCIT:C5962]
synonym: "PRL producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary gland tumor" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary tumor" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary tumour" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary gland tumor" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary tumor" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396, NCIT:C7910]
synonym: "prolactin secreting tumor of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumor of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin-producing pituitary gland carcinoma" EXACT EXCLUDE [DOID:5396]
synonym: "prolactin-producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin-producing pituitary gland tumor" EXACT [NCIT:C7910]
xref: DOID:5396 {source="MONDO:equivalentTo"}
xref: NCIT:C7910 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.29", source="DOID:5396"}
xref: UMLS:C0278863 {source="MONDO:equivalentTo", source="NCIT:C7910", source="MEDGEN:kboom-pr95-c98", source="DOID:5396"}
is_a: MONDO:0017611 ! pituitary tumor
property_value: exactMatch DOID:5396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278863
property_value: exactMatch NCIT:C7910

[Term]
id: MONDO:0003431
name: lipoadenoma
def: "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." [NCIT:C4159]
synonym: "adenolipoma, benign" EXACT [NCIT:C4159]
synonym: "lipoadenoma" EXACT [NCIT:C4159]
synonym: "lipoadenoma (morphologic abnormality)" EXACT [DOID:5398]
xref: DOID:5398 {source="MONDO:equivalentTo"}
xref: ICDO:8324/0 {source="NCIT:C4159"}
xref: NCIT:C4159 {source="DOID:5398", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334325 {source="DOID:5398", source="MONDO:equivalentTo", source="NCIT:C4159"}
is_a: MONDO:0004972 {source="DOID:5398", source="MONDO:Redundant", source="NCIT:C4159"} ! adenoma
property_value: closeMatch http://identifiers.org/snomedct/22024005
property_value: exactMatch DOID:5398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334325
property_value: exactMatch NCIT:C4159

[Term]
id: MONDO:0003432
name: strabismus
def: "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." [NCIT:P378]
synonym: "squint" EXACT [NCIT:C35040]
synonym: "strabismus" EXACT [NCIT:C35040]
xref: COHD:4329707 {source="MONDO:equivalentTo"}
xref: DOID:540 {source="MONDO:equivalentTo"}
xref: ICD10:H50.8 {source="DOID:540"}
xref: ICD10:H50.89 {source="DOID:540"}
xref: ICD9:378.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:378.7 {source="DOID:540"}
xref: NCIT:C35040 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:22066006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0038379 {source="NCIT:C35040", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001584 {source="DOID:540", source="linkedlifedata"} ! ocular motility disease
relationship: excluded_subClassOf MONDO:0004891 {source="DOID:540"} ! hyperopia
property_value: closeMatch http://identifiers.org/snomedct/194125000
property_value: closeMatch http://identifiers.org/snomedct/194128003
property_value: closeMatch http://identifiers.org/snomedct/194651002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029831
property_value: exactMatch DOID:540
property_value: exactMatch http://identifiers.org/snomedct/22066006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038379
property_value: exactMatch NCIT:C35040

[Term]
id: MONDO:0003433
name: water-clear cell adenoma
def: "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular." [NCIT:P378]
synonym: "parathyroid gland water-clear cell adenoma" EXACT [NCIT:C4155]
synonym: "water-clear cell adenoma (morphologic abnormality)" EXACT [DOID:5401]
xref: DOID:5401 {source="MONDO:equivalentTo"}
xref: ICDO:8322/0 {source="NCIT:C4155"}
xref: NCIT:C4155 {source="MONDO:kboom-pr-1.00/0.91/28.23", source="DOID:5401", source="MONDO:equivalentTo"}
xref: UMLS:C0334321 {source="DOID:5401", source="NCIT:C4155", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="DOID:5401", source="NCIT:C4155/inferred"} ! adenoma
property_value: closeMatch http://identifiers.org/snomedct/26638004
property_value: exactMatch DOID:5401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334321
property_value: exactMatch NCIT:C4155

[Term]
id: MONDO:0003434
name: vaginal adenoma
def: "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." [NCIT:C40256]
synonym: "vagina adenoma" EXACT [MONDO:patterns/location]
synonym: "vaginal adenoma" EXACT [NCIT:C40256]
xref: DOID:5402 {source="MONDO:equivalentTo"}
xref: NCIT:C40256 {source="DOID:5402", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519913 {source="DOID:5402", source="MONDO:equivalentTo", source="NCIT:C40256"}
is_a: MONDO:0001704 {source="NCIT:C40256"} ! vaginal glandular neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40256"} ! adenoma
property_value: exactMatch DOID:5402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519913
property_value: exactMatch NCIT:C40256

[Term]
id: MONDO:0003435
name: microcystic adenoma
def: "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia." [NCIT:C3685]
synonym: "microcystic adenoma" EXACT [DOID:5403, NCIT:C3685]
synonym: "microcystic adenoma (morphologic abnormality)" EXACT [DOID:5403]
xref: DOID:5403 {source="MONDO:equivalentTo"}
xref: ICDO:8202/0 {source="NCIT:C3685"}
xref: NCIT:C3685 {source="DOID:5403", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0205648 {source="DOID:5403", source="MONDO:equivalentTo", source="NCIT:C3685"}
is_a: MONDO:0004972 {source="DOID:5403", source="NCIT:C3685"} ! adenoma
property_value: closeMatch http://identifiers.org/snomedct/189580001
property_value: closeMatch http://identifiers.org/snomedct/79494009
property_value: exactMatch DOID:5403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205648
property_value: exactMatch NCIT:C3685

[Term]
id: MONDO:0003436
name: lung oat cell carcinoma
synonym: "oat cell carcinoma" BROAD [CSP2005:2017-6589, DOID:5411]
synonym: "oat cell carcinoma (morphologic abnormality)" BROAD [DOID:5411]
synonym: "poorly differentiated endocrine neoplasm" BROAD [DOID:5411, NCIT:C3915]
xref: DOID:5411 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:254633006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.29/0.06"}
xref: UMLS:C0262584 {source="DOID:5411", source="MONDO:equivalentTo"}
is_a: MONDO:0008433 {source="DOID:5411", source="MONDOLEX:0003436", source="linkedlifedata"} ! small cell lung carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189555001
property_value: closeMatch http://identifiers.org/snomedct/74364000
property_value: closeMatch http://identifiers.org/snomedct/76817009
property_value: exactMatch DOID:5411
property_value: exactMatch http://identifiers.org/snomedct/254633006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262584

[Term]
id: MONDO:0003437
name: occult small cell lung carcinoma
def: "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6683]
synonym: "lung occult small cell carcinoma" RELATED [DOID:5414]
synonym: "occult small cell carcinoma of lung" EXACT [DOID:5414, NCIT:C6683]
synonym: "occult small cell carcinoma of the lung" EXACT [DOID:5414, NCIT:C6683]
synonym: "occult small cell lung carcinoma" EXACT [NCIT:C6683]
xref: DOID:5414 {source="MONDO:equivalentTo"}
xref: NCIT:C6683 {source="DOID:5414", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335099 {source="NCIT:C6683", source="DOID:5414", source="MONDO:equivalentTo"}
is_a: MONDO:0008433 {source="DOID:5414", source="MONDOLEX:0003437", source="NCIT:C6683"} ! small cell lung carcinoma
property_value: exactMatch DOID:5414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335099
property_value: exactMatch NCIT:C6683

[Term]
id: MONDO:0003438
name: combined small cell lung carcinoma
def: "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." [NCIT:C9137]
synonym: "combined small and large cell lung cancer" EXACT [NCIT:C9137]
synonym: "combined small and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined small cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "combined small cell carcinoma of the lung" EXACT [DOID:5421, NCIT:C9137]
synonym: "combined small cell lung cancer" EXACT [NCIT:C9137]
synonym: "combined small cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined type small cell carcinoma of lung" EXACT [DOID:5421, NCIT:C9137]
synonym: "combined type small cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "combined type small cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "CSCLC" RELATED [ONCOTREE:CSCLC]
synonym: "lung combined type small cell carcinoma" RELATED [DOID:5421]
synonym: "mixed small cell and large cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "mixed small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "mixed small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "small cell and large cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
xref: DOID:5421 {source="MONDO:equivalentTo"}
xref: ICDO:8045/3 {source="NCIT:C9137"}
xref: NCIT:C9137 {source="DOID:5421", source="MONDO:kboom-pr-0.94/0.83/1.05", source="MONDO:equivalentTo"}
xref: ONCOTREE:CSCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1333125 {source="DOID:5421", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006167 {source="MONDO:Redundant", source="NCIT:C9137"} ! combined lung carcinoma
is_a: MONDO:0008433 {source="DOID:5421", source="MONDO:Redundant", source="MONDOLEX:0003438", source="NCIT:C9137"} ! small cell lung carcinoma
intersection_of: MONDO:0006167 {source="NCIT:C9137"} ! combined lung carcinoma
intersection_of: MONDO:0008433 {source="NCIT:C9137"} ! small cell lung carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334240
property_value: exactMatch DOID:5421
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333125
property_value: exactMatch NCIT:C9137

[Term]
id: MONDO:0003439
name: urinary bladder villous adenoma
def: "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." [NCIT:P378]
synonym: "bladder villous adenoma" EXACT [NCIT:C7414]
synonym: "urinary bladder villous adenoma" EXACT [MONDO:patterns/location, NCIT:C7414]
synonym: "villous adenoma of the urinary bladder" EXACT [NCIT:C7414]
synonym: "villous adenoma of urinary bladder" EXACT [DOID:5427, NCIT:C7414]
xref: DOID:5427 {source="MONDO:equivalentTo"}
xref: NCIT:C7414 {source="DOID:5427", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336893 {source="DOID:5427", source="MONDO:equivalentTo", source="NCIT:C7414"}
is_a: MONDO:0000502 {source="DOID:5427", source="MONDO:Redundant", source="MONDOLEX:0003439", source="NCIT:C7414"} ! villous adenoma
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C7414"} ! urinary bladder neoplasm
property_value: exactMatch DOID:5427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336893
property_value: exactMatch NCIT:C7414

[Term]
id: MONDO:0003440
name: obsolete bladder flat intraepithelial lesion
is_obsolete: true
replaced_by: MONDO:0006111

[Term]
id: MONDO:0003441
name: dystonic disorder
def: "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." [NCIT:C34563]
synonym: "dystonia" EXACT [MONDO:ambiguous]
synonym: "dystonia disorder" RELATED [MESH:D020821]
synonym: "dystonia disorders" RELATED [MESH:D020821]
synonym: "dystonic disease" EXACT [DOID:543]
synonym: "dystonic disorder" EXACT [MESH:D020821]
xref: COHD:375800 {source="MONDO:equivalentTo"}
xref: DOID:543 {source="MONDO:equivalentTo"}
xref: HP:0001332 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G24 {source="MONDO:equivalentTo", source="DOID:543"}
xref: ICD10:G24.9 {source="DOID:543"}
xref: ICD9:333.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020821 {source="MONDO:equivalentTo", source="DOID:543"}
xref: NCIT:C34563 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:543"}
xref: OMIMPS:128100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:15802004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:543"}
is_a: MONDO:0005395 {source="DOID:543", source="MESH:D020821", source="NCIT:C34563", source="linkedlifedata", source="linkedlifedata/inferred"} ! movement disorder
property_value: closeMatch http://identifiers.org/mesh/D004421
property_value: closeMatch http://identifiers.org/snomedct/192863009
property_value: closeMatch http://identifiers.org/snomedct/194478005
property_value: closeMatch http://identifiers.org/snomedct/250068003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013421
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393593
property_value: exactMatch DOID:543
property_value: exactMatch http://identifiers.org/mesh/D020821
property_value: exactMatch http://identifiers.org/snomedct/15802004
property_value: exactMatch NCIT:C34563

[Term]
id: MONDO:0003442
name: bladder papillary urothelial neoplasm
def: "A papillary epithelial neoplasm that involves the urinary bladder urothelium." [MONDO:patterns/location]
synonym: "bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857]
synonym: "bladder papillary urothelial neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder papillary urothelial neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5432 {source="MONDO:equivalentTo"}
xref: NCIT:C39857 {source="DOID:5432", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.92/2.18"}
xref: UMLS:C1511197 {source="DOID:5432", source="MONDO:equivalentTo", source="NCIT:C39857"}
is_a: MONDO:0003443 {source="DOID:5432", source="MONDO:Redundant", source="MONDOLEX:0003442", source="NCIT:C39857"} ! papillary urothelial neoplasm
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C39857", source="OWLReasoner:2017"} ! urinary bladder neoplasm
property_value: exactMatch DOID:5432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511197
property_value: exactMatch NCIT:C39857

[Term]
id: MONDO:0003443
name: papillary urothelial neoplasm
def: "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" [NCIT:C27883]
synonym: "inverted papilloma of urinary tract" EXACT [DOID:5433, NCIT:C6192]
synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT [DOID:5433, NCIT:C27883]
synonym: "papillary urothelial neoplasm" EXACT [NCIT:C27883]
synonym: "urinary tract inverted papilloma" EXACT EXCLUDE [DOID:5433]
synonym: "urinary tract papillary transitional cell benign neoplasm" RELATED [DOID:5433]
synonym: "urinary tract papillary transitional cell neoplasm" EXACT [NCIT:C27883]
synonym: "urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5433 {source="MONDO:equivalentTo"}
xref: NCIT:C27883 {source="DOID:5433", source="MONDO:equivalentTo"}
xref: UMLS:C1335329 {source="DOID:5433", source="NCIT:C27883", source="MONDO:equivalentTo"}
is_a: MONDO:0021096 {source="MONDO:Redundant", source="MONDOLEX:0003443", source="NCIT:C27883"} ! papillary epithelial neoplasm
is_a: MONDO:0024337 ! urothelial neoplasm
property_value: exactMatch DOID:5433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335329
property_value: exactMatch NCIT:C27883

[Term]
id: MONDO:0003444
name: intrahepatic bile duct adenoma
def: "A rare adenoma that arises from the intrahepatic biliary tree." [NCIT:P378]
synonym: "adenoma of intrahepatic bile duct" RELATED [DOID:5437]
synonym: "adenoma of the intrahepatic bile duct" EXACT [DOID:5437, NCIT:C7126]
synonym: "adenoma, HEPATOCHOLANGIOCELLULAR, benign" EXACT [NCIT:C7126]
synonym: "intrahepatic bile duct adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5437 {source="MONDO:equivalentTo"}
xref: NCIT:C7126 {source="MONDO:equivalentTo", source="DOID:5437", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1331535 {source="MONDO:equivalentTo", source="DOID:5437", source="NCIT:C7126"}
is_a: MONDO:0006108 {source="DOID:5437", source="MONDO:Redundant", source="NCIT:C7126"} ! bile duct adenoma
property_value: exactMatch DOID:5437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331535
property_value: exactMatch NCIT:C7126

[Term]
id: MONDO:0003445
name: extrahepatic bile duct adenoma
def: "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." [NCIT:C5857]
synonym: "adenoma of extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857]
synonym: "adenoma of the extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857]
synonym: "extrahepatic bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C5857]
xref: DOID:5438 {source="MONDO:equivalentTo"}
xref: NCIT:C5857 {source="DOID:5438", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1331534 {source="DOID:5438", source="MONDO:equivalentTo", source="NCIT:C5857"}
is_a: MONDO:0006108 {source="DOID:5438", source="MONDO:Redundant", source="NCIT:C5857"} ! bile duct adenoma
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5857"} ! extrahepatic bile duct neoplasm
property_value: exactMatch DOID:5438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331534
property_value: exactMatch NCIT:C5857

[Term]
id: MONDO:0003446
name: papillary hidradenoma
def: "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." [NCIT:C4171]
synonym: "hidradenoma papilliferum" EXACT [NCIT:C4171]
xref: DOID:5439 {source="MONDO:equivalentTo"}
xref: ICDO:8405/0 {source="NCIT:C4171"}
xref: NCIT:C4171 {source="MONDO:equivalentTo", source="DOID:5439", source="exact-label-match"}
xref: SCTID:307597000 {source="MONDO:equivalentTo", source="DOID:5439", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334348 {source="MONDO:equivalentTo", source="DOID:5439", source="NCIT:C4171"}
is_a: MONDO:0002805 {source="DOID:5439", source="MONDOLEX:0003446"} ! hidradenoma
property_value: closeMatch http://identifiers.org/snomedct/134157002
property_value: closeMatch http://identifiers.org/snomedct/89791006
property_value: exactMatch DOID:5439
property_value: exactMatch http://identifiers.org/snomedct/307597000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334348
property_value: exactMatch NCIT:C4171

[Term]
id: MONDO:0003447
name: clear cell hidradenoma
def: "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." [NCIT:C7567]
synonym: "clear cell hidradenoma" EXACT [DOID:5443, NCIT:C7567]
synonym: "clear cell hidradenoma (morphologic abnormality)" EXACT [DOID:5443]
synonym: "clear cell myoepithelioma" EXACT [DOID:5443]
xref: DOID:5443 {source="MONDO:equivalentTo"}
xref: NCIT:C7567 {source="DOID:5443", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370701 {source="DOID:5443", source="MONDO:equivalentTo", source="NCIT:C7567"}
is_a: MONDO:0002805 {source="DOID:5443", source="MONDOLEX:0003447", source="NCIT:C7567"} ! hidradenoma
is_a: MONDO:0003426 {source="NCIT:C7567"} ! clear cell adenoma
property_value: closeMatch http://identifiers.org/snomedct/254719003
property_value: closeMatch http://identifiers.org/snomedct/81143000
property_value: exactMatch DOID:5443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370701
property_value: exactMatch NCIT:C7567

[Term]
id: MONDO:0003448
name: benign spiradenoma
def: "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." [NCIT:C4170]
comment: Spiradenomas are usually benign. Malignant forms are rare.
synonym: "benign eccrine spiradenoma" NARROW [DOID:5444, NCIT:C4170]
synonym: "eccrine spiradenoma" NARROW [NCIT:C4170]
synonym: "eccrine spiradenoma (morphologic abnormality)" NARROW [DOID:5444]
synonym: "eccrine spiradenoma of skin" NARROW [DOID:5444]
synonym: "spiradenoma" EXACT [NCIT:C4170]
synonym: "spiroma/spiradenoma" RELATED [ONCOTREE:SPIR]
xref: DOID:5444 {source="MONDO:equivalentTo"}
xref: GARD:0008649 {source="MONDO:equivalentTo"}
xref: ICDO:8403/0 {source="NCIT:C4170"}
xref: NCIT:C4170 {source="DOID:5444", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SPIR {source="MONDO:equivalentTo"}
xref: SCTID:403938001 {source="DOID:5444", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.06"}
xref: UMLS:C0334347 {source="DOID:5444", source="MONDO:equivalentTo", source="NCIT:C4170"}
is_a: MONDO:0021489 {source="NCIT:C4170"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:5444"} ! apocrine sweat gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/4977000
property_value: exactMatch DOID:5444
property_value: exactMatch http://identifiers.org/snomedct/403938001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334347
property_value: exactMatch NCIT:C4170

[Term]
id: MONDO:0003449
name: obsolete syringocystadenoma papilliferum
is_obsolete: true
replaced_by: MONDO:0006439

[Term]
id: MONDO:0003450
name: eccrine papillary adenoma
def: "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." [NCIT:P378]
subset: gard_rare {source="GARD:0010463"}
synonym: "eccrine papillary adenoma of skin" EXACT [DOID:5446]
synonym: "Papillary eccrine adenoma" EXACT [NCIT:C4173]
synonym: "Papillary eccrine adenoma" RELATED [NCIT:C4173]
xref: DOID:5446 {source="MONDO:equivalentTo"}
xref: GARD:0010463 {source="MONDO:equivalentTo"}
xref: ICDO:8408/0 {source="NCIT:C4173"}
xref: NCIT:C4173 {source="DOID:5446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:253021007 {source="DOID:5446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334350 {source="NCIT:C4173", source="DOID:5446", source="MONDO:equivalentTo"}
is_a: MONDO:0002090 {source="DOID:5446", source="MONDO:Redundant"} ! eccrine sweat gland neoplasm
is_a: MONDO:0002533 ! papillary adenoma
is_a: MONDO:0021110 ! sweat gland adenoma
property_value: closeMatch http://identifiers.org/snomedct/10060008
property_value: closeMatch http://identifiers.org/snomedct/134345002
property_value: closeMatch http://identifiers.org/snomedct/189674003
property_value: exactMatch DOID:5446
property_value: exactMatch http://identifiers.org/snomedct/253021007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334350
property_value: exactMatch NCIT:C4173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma xsd:anyURI {source="GARD:0010463"}

[Term]
id: MONDO:0003451
name: obsolete laryngeal neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0015070

[Term]
id: MONDO:0003452
name: cochlear disease
def: "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph)." [MESH:D015834]
synonym: "cochlea disease" EXACT [MONDO:patterns/location]
synonym: "cochlea disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cochlea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cochlea" EXACT []
synonym: "disorder of cochlea" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cochlea" RELATED [MONDO:patterns/location_top]
xref: DOID:5463 {source="MONDO:equivalentTo"}
xref: MESH:D015834 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5463"}
xref: UMLS:C0009197 {source="MONDO:equivalentTo", source="DOID:5463"}
is_a: MONDO:0002467 ! inner ear disease
is_a: MONDO:0024654 ! skull disorder
property_value: exactMatch DOID:5463
property_value: exactMatch http://identifiers.org/mesh/D015834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009197

[Term]
id: MONDO:0003453
name: conjunctival intraepithelial neoplasm
synonym: "conjunctiva intraepithelial neoplasia" EXACT [NCIT:C6120]
synonym: "conjunctival intraepithelial neoplasia" EXACT [NCIT:C6120]
synonym: "intraepithelial neoplasia of conjunctiva" EXACT [DOID:5465, NCIT:C6120]
synonym: "intraepithelial neoplasia of the conjunctiva" EXACT [NCIT:C6120]
xref: DOID:5465 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6120 {source="DOID:5465", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:418134006 {source="DOID:5465", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1333148 {source="DOID:5465", source="NCIT:C6120", source="MONDO:equivalentTo"}
is_a: MONDO:0020204 {source="NCIT:C6120"} ! conjunctival tumor
is_a: MONDO:0024475 {source="MONDO:Redundant", source="NCIT:C6120"} ! squamous cell intraepithelial neoplasia
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:5465"} ! pre-malignant neoplasm
property_value: exactMatch DOID:5465
property_value: exactMatch http://identifiers.org/snomedct/418134006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333148
property_value: exactMatch NCIT:C6120

[Term]
id: MONDO:0003454
name: conjunctival cancer
def: "A malignant neoplasm involving the conjunctiva." [MONDO:DesignPattern]
synonym: "cancer of conjunctiva" EXACT [MONDO:patterns/cancer]
synonym: "conjunctiva cancer" EXACT [MONDO:patterns/location]
synonym: "conjunctival tumor" EXACT [DOID:5467, NCIT:C2961]
synonym: "malignant conjunctiva neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3564]
synonym: "malignant conjunctiva tumor" EXACT [NCIT:C3564]
synonym: "malignant conjunctival neoplasm" EXACT [NCIT:C3564]
synonym: "malignant conjunctival tumor" EXACT [DOID:5467, NCIT:C3564]
synonym: "malignant neoplasm of conjunctiva" EXACT [DOID:5467, MONDO:patterns/cancer, NCIT:C3564]
synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [DOID:5467]
synonym: "malignant neoplasm of the conjunctiva" EXACT [NCIT:C3564]
synonym: "malignant tumor of conjunctiva" EXACT [NCIT:C3564]
synonym: "malignant tumor of the conjunctiva" EXACT [NCIT:C3564]
synonym: "neoplasm of conjunctiva" EXACT EXCLUDE [DOID:5467]
xref: COHD:373151 {source="MONDO:equivalentTo"}
xref: DOID:5467 {source="MONDO:equivalentTo"}
xref: ICD10:C69.0 {source="DOID:5467"}
xref: ICD9:190.3 {source="DOID:5467", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3564 {source="DOID:5467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.75/0.86"}
xref: SCTID:363463000 {source="DOID:5467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.69/0.62"}
is_a: MONDO:0002236 {source="DOID:5467", source="MONDO:Redundant", source="NCIT:C3564", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular cancer
is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C3564"} ! conjunctival tumor
property_value: closeMatch http://identifiers.org/mesh/D003230
property_value: closeMatch http://identifiers.org/snomedct/126996004
property_value: closeMatch http://identifiers.org/snomedct/93764002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009761
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153628
property_value: exactMatch DOID:5467
property_value: exactMatch http://identifiers.org/snomedct/363463000
property_value: exactMatch NCIT:C3564

[Term]
id: MONDO:0003455
name: bile duct papillary neoplasm
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." [NCIT:P378]
synonym: "bile duct papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "bile duct papillary neoplasm" EXACT [NCIT:C6881]
synonym: "bile duct papillomatosis" EXACT [NCIT:C6881]
synonym: "biliary papillomatosis" EXACT [DOID:5468, NCIT:C6881]
synonym: "intraductal papillary neoplasm" EXACT [NCIT:C6881]
synonym: "IPN" EXACT [NCIT:C6881]
xref: DOID:5468 {source="MONDO:equivalentTo"}
xref: ICDO:8503/0 {source="NCIT:C6881"}
xref: NCIT:C6881 {source="MONDO:equivalentTo"}
xref: UMLS:C1879344 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6881", source="MONDO:equivalentTo"}
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0002060 ! intraductal papilloma
is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C6881"} ! bile duct neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128663007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266038
property_value: exactMatch DOID:5468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1879344
property_value: exactMatch NCIT:C6881

[Term]
id: MONDO:0003456
name: obsolete bile duct mucinous cystic neoplasm
comment: See Bile Duct Cystadenoma
is_obsolete: true
consider: DOID:5469 {source="MONDO:obsoleteEquivalent"}
consider: NCIT:C37215 {source="DOID:5469"}
consider: UMLS:C1334253

[Term]
id: MONDO:0003457
name: obsolete ovarian serous adenofibroma
is_obsolete: true
replaced_by: MONDO:0006340

[Term]
id: MONDO:0003458
name: uterine corpus adenofibroma
def: "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core." [NCIT:C6337]
synonym: "adenofibroma of body of uterus" EXACT [NCIT:C6337]
synonym: "adenofibroma of corpus uteri" EXACT [DOID:5475, NCIT:C6337]
synonym: "adenofibroma of the body of uterus" EXACT [NCIT:C6337]
synonym: "adenofibroma of the corpus uteri" EXACT [NCIT:C6337]
synonym: "adenofibroma of the uterine body" EXACT [NCIT:C6337]
synonym: "adenofibroma of the uterine corpus" EXACT [NCIT:C6337]
synonym: "adenofibroma of uterine body" EXACT [NCIT:C6337]
synonym: "adenofibroma of uterine corpus" RELATED [DOID:5475]
synonym: "body of uterus adenofibroma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri adenofibroma" EXACT [NCIT:C6337]
synonym: "uterine body adenofibroma" EXACT [NCIT:C6337]
xref: DOID:5475 {source="MONDO:equivalentTo"}
xref: NCIT:C6337 {source="DOID:5475", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336901 {source="DOID:5475", source="MONDO:equivalentTo", source="NCIT:C6337"}
is_a: MONDO:0006071 {source="DOID:5475", source="MONDO:Redundant", source="MONDOLEX:0003458", source="NCIT:C6337"} ! adenofibroma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C6337/inferred"} ! benign neoplasm of corpus uteri
property_value: exactMatch DOID:5475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336901
property_value: exactMatch NCIT:C6337

[Term]
id: MONDO:0003459
name: cervical adenofibroma
def: "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements." [NCIT:C40230]
xref: DOID:5476 {source="MONDO:equivalentTo"}
xref: NCIT:C40230 {source="DOID:5476", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516402 {source="DOID:5476", source="MONDO:equivalentTo", source="NCIT:C40230"}
is_a: MONDO:0000644 {source="DOID:5476", source="NCIT:C40230/inferred"} ! cervical benign neoplasm
property_value: exactMatch DOID:5476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516402
property_value: exactMatch NCIT:C40230

[Term]
id: MONDO:0003460
name: clear cell adenofibroma
def: "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma." [NCIT:C8987]
synonym: "clear cell adenofibroma" EXACT [DOID:5477, NCIT:C8987]
synonym: "clear cell adenofibroma (morphologic abnormality)" EXACT [DOID:5477]
xref: DOID:5477 {source="MONDO:equivalentTo"}
xref: ICDO:8313/0 {source="NCIT:C8987"}
xref: NCIT:C8987 {source="DOID:5477", source="MONDO:equivalentTo", source="exact-label-match"}
is_a: MONDO:0006071 {source="DOID:5477", source="MONDOLEX:0003460", source="NCIT:C8987"} ! adenofibroma
property_value: closeMatch http://identifiers.org/snomedct/2962009
property_value: closeMatch http://identifiers.org/snomedct/58161009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334317
property_value: exactMatch DOID:5477
property_value: exactMatch NCIT:C8987

[Term]
id: MONDO:0003461
name: fallopian tube serous adenofibroma
def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." [NCIT:C40113]
synonym: "fallopian tube adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113]
synonym: "fallopian tube serous adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113]
synonym: "serous adenofibroma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:5478 {source="MONDO:equivalentTo"}
xref: NCIT:C40113 {source="DOID:5478", source="MONDO:equivalentTo"}
xref: UMLS:C1517109 {source="DOID:5478", source="MONDO:equivalentTo", source="NCIT:C40113"}
is_a: MONDO:0000645 {source="DOID:5478", source="MONDO:Redundant", source="NCIT:C40113"} ! fallopian tube benign neoplasm
is_a: MONDO:0024886 {source="MONDO:Redundant", source="MONDOLEX:0003461", source="NCIT:C40113"} ! serous adenofibroma
property_value: exactMatch DOID:5478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517109
property_value: exactMatch NCIT:C40113

[Term]
id: MONDO:0003462
name: papillary adenofibroma
def: "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." [NCIT:C8986]
synonym: "papillary adenofibroma" EXACT [DOID:5479]
xref: DOID:5479 {source="MONDO:equivalentTo"}
xref: NCIT:C8986 {source="DOID:5479", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1377850 {source="DOID:5479", source="MONDO:equivalentTo", source="NCIT:C8986"}
is_a: MONDO:0006071 {source="DOID:5479", source="MONDOLEX:0003462", source="NCIT:C8986"} ! adenofibroma
property_value: closeMatch http://identifiers.org/snomedct/2962009
property_value: exactMatch DOID:5479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377850
property_value: exactMatch NCIT:C8986

[Term]
id: MONDO:0003463
name: ovarian endometrioid adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27287]
synonym: "ovarian endometrioid adenofibroma" EXACT [NCIT:C27287]
xref: DOID:5480 {source="MONDO:equivalentTo"}
xref: ICDO:8380/0 {source="NCIT:C27287"}
xref: ICDO:8381/0 {source="NCIT:C27287"}
xref: NCIT:C27287 {source="MONDO:equivalentTo", source="DOID:5480", source="exact-label-match"}
xref: UMLS:C2212024 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27287", source="MONDO:equivalentTo"}
is_a: MONDO:0000646 {source="DOID:5480", source="NCIT:C27287/inferred"} ! ovarian benign neoplasm
property_value: exactMatch DOID:5480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2212024
property_value: exactMatch NCIT:C27287

[Term]
id: MONDO:0003464
name: cystadenofibroma
def: "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue." [NCIT:C8985]
synonym: "cystadenofibroma" EXACT [NCIT:C8985]
synonym: "cystadenofibroma, NOS" RELATED EXCLUDE [DOID:5482]
xref: DOID:5482 {source="MONDO:equivalentTo"}
xref: MESH:D062625 {source="MONDO:equivalentTo", source="DOID:5482"}
xref: NCIT:C8985 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5482"}
is_a: MONDO:0006071 {source="DOID:5482", source="MESH:D062625", source="MONDOLEX:0003464", source="NCIT:C8985"} ! adenofibroma
property_value: closeMatch http://identifiers.org/snomedct/2962009
property_value: closeMatch http://identifiers.org/snomedct/58161009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334317
property_value: exactMatch DOID:5482
property_value: exactMatch http://identifiers.org/mesh/D062625
property_value: exactMatch NCIT:C8985

[Term]
id: MONDO:0003465
name: fibrous synovial sarcoma
synonym: "fibrous sarcoma of synovium" EXACT [DOID:5484, NCIT:C6533]
synonym: "fibrous sarcoma of the synovium" EXACT [NCIT:C6533]
xref: DOID:5484 {source="MONDO:equivalentTo"}
xref: NCIT:C6533 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5484"}
xref: UMLS:C1333616 {source="MONDO:equivalentTo", source="NCIT:C6533", source="DOID:5484"}
is_a: MONDO:0010434 {source="DOID:5484"} ! synovial sarcoma (disease)
property_value: exactMatch DOID:5484
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333616
property_value: exactMatch NCIT:C6533

[Term]
id: MONDO:0003466
name: spindle cell synovial sarcoma
def: "A synovial sarcoma characterized by the presence of a spindle cell component only." [NCIT:P378]
synonym: "synovial sarcoma with spindle cell components" EXACT [DOID:5487, NCIT:C4277]
synonym: "synovial sarcoma, monophasic fibrous" EXACT [DOID:5487]
xref: DOID:5487 {source="MONDO:equivalentTo"}
xref: ICDO:9041/3 {source="NCIT:C4277"}
xref: NCIT:C4277 {source="DOID:5487", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0334505 {source="DOID:5487", source="MONDO:equivalentTo", source="NCIT:C4277"}
is_a: MONDO:0002927 ! spindle cell sarcoma
is_a: MONDO:0005067 {source="NCIT:C4277"} ! monophasic synovial sarcoma
property_value: closeMatch http://identifiers.org/snomedct/37206003
property_value: exactMatch DOID:5487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334505
property_value: exactMatch NCIT:C4277

[Term]
id: MONDO:0003467
name: mediastinum synovial sarcoma
def: "A synovial sarcoma arising from the mediastinum." [NCIT:P378]
synonym: "mediastinal synovial sarcoma" EXACT [NCIT:C6618]
synonym: "mediastinum synovial sarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "synovial sarcoma of mediastinum" EXACT [DOID:5488, NCIT:C6618]
synonym: "synovial sarcoma of the mediastinum" EXACT [NCIT:C6618]
xref: DOID:5488 {source="MONDO:equivalentTo"}
xref: NCIT:C6618 {source="DOID:5488", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334681 {source="DOID:5488", source="MONDO:equivalentTo", source="NCIT:C6618"}
is_a: MONDO:0002852 {source="DOID:5488", source="MONDO:Redundant", source="NCIT:C6618"} ! mediastinum sarcoma
is_a: MONDO:0010434 {source="DOID:5488", source="MONDO:Redundant", source="NCIT:C6618"} ! synovial sarcoma (disease)
property_value: exactMatch DOID:5488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334681
property_value: exactMatch NCIT:C6618

[Term]
id: MONDO:0003468
name: biphasic synovial sarcoma
def: "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." [NCIT:P378]
synonym: "biphasic sarcoma of synovium" EXACT [DOID:5492, NCIT:C4279]
synonym: "biphasic sarcoma of the synovium" EXACT [NCIT:C4279]
synonym: "synovial sarcoma, biphasic" EXACT [DOID:5492]
synonym: "synovial sarcoma, biphasic (morphologic abnormality)" EXACT [DOID:5492]
xref: DOID:5492 {source="MONDO:equivalentTo"}
xref: ICDO:9043/3 {source="NCIT:C4279"}
xref: NCIT:C4279 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5492"}
xref: UMLS:C0334507 {source="MONDO:equivalentTo", source="NCIT:C4279", source="DOID:5492"}
is_a: MONDO:0010434 {source="DOID:5492", source="NCIT:C4279"} ! synovial sarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/18588008
property_value: exactMatch DOID:5492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334507
property_value: exactMatch NCIT:C4279

[Term]
id: MONDO:0003469
name: epithelioid cell synovial sarcoma
def: "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures." [NCIT:P378]
synonym: "epithelial sarcoma of synovium" EXACT [NCIT:C4278]
synonym: "epithelial sarcoma of the synovium" EXACT [NCIT:C4278]
synonym: "epithelial synovial sarcoma" EXACT [NCIT:C4278]
synonym: "epithelioid cell sarcoma of synovium" EXACT [NCIT:C4278]
synonym: "epithelioid cell sarcoma of the synovium" EXACT [NCIT:C4278]
synonym: "epithelioid synovial sarcoma" EXACT [DOID:5494, NCIT:C4278]
synonym: "synovial sarcoma, epithelioid cell" EXACT [DOID:5494]
synonym: "synovial sarcoma, epithelioid cell (morphologic abnormality)" EXACT [DOID:5494]
xref: DOID:5494 {source="MONDO:equivalentTo"}
xref: ICDO:9042/3 {source="NCIT:C4278"}
xref: NCIT:C4278 {source="MONDO:equivalentTo", source="DOID:5494", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334506 {source="MONDO:equivalentTo", source="NCIT:C4278", source="DOID:5494"}
is_a: MONDO:0005067 {source="NCIT:C4278"} ! monophasic synovial sarcoma
property_value: closeMatch http://identifiers.org/snomedct/56422000
property_value: exactMatch DOID:5494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334506
property_value: exactMatch NCIT:C4278

[Term]
id: MONDO:0003470
name: cellular ependymoma
def: "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)" [NCIT:C4713]
xref: DOID:5500 {source="MONDO:equivalentTo"}
xref: NCIT:C4713 {source="DOID:5500", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1384403 {source="DOID:5500", source="MONDO:equivalentTo", source="NCIT:C4713"}
is_a: MONDO:0016698 {source="MONDOLEX:0003470", source="NCIT:C4713"} ! ependymoma
property_value: closeMatch http://identifiers.org/snomedct/253067007
property_value: closeMatch http://identifiers.org/snomedct/253068002
property_value: closeMatch http://identifiers.org/snomedct/57706008
property_value: exactMatch DOID:5500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384403
property_value: exactMatch NCIT:C4713

[Term]
id: MONDO:0003471
name: Pediculus humanus capitis infestation
def: "A infectious disease involving Pediculus humanus capitis." [MONDO:patterns/infectious_disease_by_agent]
synonym: "head louse infestation" EXACT [DOID:5501]
synonym: "infections, Pediculus humanus capitis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "pediculosis capitis" EXACT [DOID:5501]
synonym: "Pediculus capitis" EXACT [DOID:5501, MTHICD9_2006:132.0]
synonym: "Pediculus capitis [head louse]" EXACT [DOID:5501, ICD9CM_2006:132.0]
synonym: "Pediculus capitis infestation" EXACT [DOID:5501]
synonym: "Pediculus humanus capitis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:5501 {source="MONDO:equivalentTo"}
xref: ICD10:B85.0 {source="DOID:5501"}
xref: ICD9:132.0 {source="DOID:5501", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:81000006 {source="DOID:5501", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/26.29"}
xref: UMLS:C0030757 {source="DOID:5501", source="MONDO:equivalentTo"}
is_a: MONDO:0003472 {source="DOID:5501", source="MONDO:Entailed", source="MONDO:Redundant"} ! lice infestation
property_value: closeMatch http://identifiers.org/snomedct/243682006
property_value: closeMatch http://identifiers.org/snomedct/271544006
property_value: exactMatch DOID:5501
property_value: exactMatch http://identifiers.org/snomedct/81000006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030757

[Term]
id: MONDO:0003472
name: lice infestation
def: "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." [NCIT:C128401]
synonym: "infections, Pediculus humanus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "infestation by Pediculus" EXACT [DOID:5502]
synonym: "lice infestation, NOS" RELATED EXCLUDE [DOID:5502]
synonym: "louse infestation" EXACT [DOID:5502]
synonym: "louse infestation (& [pediculosis and Phthirus] or [lice])" EXACT [DOID:5502]
synonym: "mixed pediculosis" EXACT [DOID:5502]
synonym: "mixed pediculosis infestation" EXACT [DOID:5502, ICD9CM_2006:132.3]
synonym: "pediculosis" EXACT [DOID:5502]
synonym: "pediculosis + lice" EXACT [DOID:5502]
synonym: "pediculosis + lice NOS" RELATED EXCLUDE [DOID:5502]
synonym: "pediculosis and Phthirus infection" EXACT [DOID:5502]
synonym: "pediculosis and Phthirus infections" EXACT [DOID:5502]
synonym: "pediculosis and Phthirus infestation" EXACT [DOID:5502, ICD9CM_2006:132]
synonym: "pediculosis, unspecified" EXACT [DOID:5502, ICD9CM_2006:132.9]
synonym: "Pediculus humanus infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: COHD:132253 {source="MONDO:equivalentTo"}
xref: DOID:5502 {source="MONDO:equivalentTo"}
xref: ICD10:B85.2 {source="DOID:5502", source="MONDO:equivalentTo"}
xref: ICD9:132.9 {source="DOID:5502"}
xref: MESH:D010373 {source="DOID:5502", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128401 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030756 {source="DOID:5502", source="MONDO:equivalentTo", source="NCIT:C128401"}
xref: UMLS:C0153317 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:C0277351 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002875 {source="DOID:5502", source="MESH:D010373"} ! parasitic ectoparasitic infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154417001
property_value: closeMatch http://identifiers.org/snomedct/187207005
property_value: closeMatch http://identifiers.org/snomedct/187212006
property_value: closeMatch http://identifiers.org/snomedct/187545007
property_value: closeMatch http://identifiers.org/snomedct/20848007
property_value: closeMatch http://identifiers.org/snomedct/266223008
property_value: closeMatch http://identifiers.org/snomedct/414618002
property_value: closeMatch http://identifiers.org/snomedct/74949007
property_value: exactMatch DOID:5502
property_value: exactMatch http://identifiers.org/mesh/D010373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277351
property_value: exactMatch NCIT:C128401

[Term]
id: MONDO:0003473
name: spinal cord ependymoma
alt_id: MONDO:0021544
def: "An ependymoma that arises from the spinal cord." [NCIT:C3875]
synonym: "ependymal neoplasm of the spinal cord" EXACT [DOID:5503, NCIT:C3875]
synonym: "ependymoma of spinal cord" EXACT [NCIT:C3875]
synonym: "ependymoma of the spinal cord" EXACT [NCIT:C3875]
synonym: "spinal cord ependymoma" EXACT [MONDO:patterns/location, NCIT:C3875]
xref: DOID:5503 {source="MONDO:equivalentTo"}
xref: NCIT:C3875 {source="MONDO:equivalentTo", source="DOID:5503"}
xref: SCTID:254949006 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo", source="DOID:5503"}
xref: UMLS:C0238432 {source="MONDO:equivalentTo", source="DOID:5503", source="NCIT:C3875"}
is_a: MONDO:0021191 ! malignant ependymoma
is_a: MONDO:0021546 {source="MONDO:Redundant", source="NCIT:C3875"} ! ependymal tumor of spinal cord
property_value: exactMatch DOID:5503
property_value: exactMatch http://identifiers.org/snomedct/254949006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238432
property_value: exactMatch NCIT:C3875

[Term]
id: MONDO:0003474
name: tanycytic ependymoma
def: "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" [NCIT:C6903]
synonym: "tanycytic ependymoma" EXACT [NCIT:C6903]
xref: DOID:5504 {source="MONDO:equivalentTo"}
xref: NCIT:C6903 {source="DOID:5504", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370500 {source="DOID:5504", source="MONDO:equivalentTo", source="NCIT:C6903"}
is_a: MONDO:0016698 {source="MONDOLEX:0003474", source="NCIT:C6903"} ! ependymoma
property_value: closeMatch http://identifiers.org/snomedct/397378002
property_value: closeMatch http://identifiers.org/snomedct/57706008
property_value: exactMatch DOID:5504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370500
property_value: exactMatch NCIT:C6903

[Term]
id: MONDO:0003475
name: papillary ependymoma
def: "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" [NCIT:C4319]
synonym: "papillary ependymoma" EXACT [NCIT:C4319]
xref: DOID:5505 {source="MONDO:equivalentTo"}
xref: ICDO:9393/3 {source="NCIT:C4319"}
xref: NCIT:C4319 {source="MONDO:equivalentTo", source="DOID:5505", source="exact-label-match"}
xref: UMLS:C0334578 {source="MONDO:equivalentTo", source="DOID:5505", source="NCIT:C4319"}
is_a: MONDO:0016698 {source="MONDOLEX:0003475", source="NCIT:C4319"} ! ependymoma
property_value: closeMatch http://identifiers.org/snomedct/112686007
property_value: closeMatch http://identifiers.org/snomedct/128839002
property_value: exactMatch DOID:5505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334578
property_value: exactMatch NCIT:C4319

[Term]
id: MONDO:0003476
name: clear cell ependymoma
def: "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." [NCIT:C4714]
synonym: "clear cell ependymoma" EXACT [NCIT:C4714]
xref: DOID:5507 {source="MONDO:equivalentTo"}
xref: NCIT:C4714 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CCE {source="MONDO:equivalentTo"}
is_a: MONDO:0016698 {source="MONDO:Redundant", source="NCIT:C4714"} ! ependymoma
relationship: excluded_subClassOf MONDO:0003161 {source="DOID:5507"} ! obsolete benign ependymoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384404
property_value: exactMatch DOID:5507
property_value: exactMatch NCIT:C4714

[Term]
id: MONDO:0003477
name: brain stem ependymoma
def: "An ependymoma that arises from the brain stem." [NCIT:C5098]
synonym: "brain stem ependymoma" EXACT [NCIT:C5098]
synonym: "brainstem ependymoma" EXACT [MONDO:patterns/location, NCIT:C5098]
synonym: "ependymoma of brain stem" EXACT [NCIT:C5098]
synonym: "ependymoma of brainstem" EXACT [NCIT:C5098]
synonym: "ependymoma of the brain stem" EXACT [NCIT:C5098]
synonym: "ependymoma of the brainstem" EXACT [DOID:5508, NCIT:C5098]
xref: DOID:5508 {source="MONDO:equivalentTo"}
xref: NCIT:C5098 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5508", source="exact-label-match"}
xref: UMLS:C1332609 {source="NCIT:C5098", source="MONDO:equivalentTo", source="DOID:5508"}
is_a: MONDO:0002911 {source="DOID:5508", source="MONDO:Redundant", source="NCIT:C5098"} ! brain stem glioma
is_a: MONDO:0004245 {source="MONDO:Redundant", source="MONDOLEX:0003477", source="NCIT:C5098"} ! ependymal tumor of brain
is_a: MONDO:0021191 ! malignant ependymoma
property_value: closeMatch http://identifiers.org/snomedct/107561000119107
property_value: exactMatch DOID:5508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332609
property_value: exactMatch NCIT:C5098

[Term]
id: MONDO:0003478
name: childhood ependymoma
def: "An ependymoma that arises from the central nervous system and occurs during childhood." [NCIT:C8578]
synonym: "childhood ependymoma" EXACT [DOID:5509, NCIT:C8578]
synonym: "ependymoma" BROAD [NCIT:C8578]
synonym: "ependymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric ependymoma" EXACT [MONDO:patterns/childhood, NCIT:C8578]
synonym: "pediatric ependymoma" RELATED [MONDO:patterns/childhood]
xref: DOID:5509 {source="MONDO:equivalentTo"}
xref: MESH:C531673 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8578 {source="MONDO:equivalentTo", source="DOID:5509"}
is_a: MONDO:0016698 {source="MESH:C531673", source="MONDO:Redundant", source="MONDOLEX:0003478", source="NCIT:C8578"} ! ependymoma
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch DOID:5509
property_value: exactMatch http://identifiers.org/mesh/C531673
property_value: exactMatch NCIT:C8578

[Term]
id: MONDO:0003479
name: toxic pneumonitis
def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." [DOID:551, http://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306]
synonym: "acute chemical fume pulmonary edema" EXACT [DOID:551]
synonym: "acute chemical pulmonary edema" EXACT [DOID:551]
xref: DOID:551 {source="MONDO:equivalentTo"}
xref: ICD9:506.9 {source="DOID:551"}
xref: SCTID:233733000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.10"}
xref: UMLS:C3714582 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0043905 {source="linkedlifedata"} ! pneumonitis
relationship: excluded_subClassOf MONDO:0005249 {source="DOID:551"} ! pneumonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041881
property_value: exactMatch DOID:551
property_value: exactMatch http://identifiers.org/snomedct/233733000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714582

[Term]
id: MONDO:0003480
name: pineal region dysgerminoma
def: "A dysgerminoma (disease) that involves the pineal body." [MONDO:patterns/location]
synonym: "pineal body dysgerminoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal dysgerminoma" EXACT [NCIT:C7169]
synonym: "pineal region dysgerminoma" EXACT [NCIT:C7169]
xref: DOID:5510 {source="MONDO:equivalentTo"}
xref: NCIT:C7169 {source="DOID:5510", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335415 {source="DOID:5510", source="NCIT:C7169", source="MONDO:equivalentTo"}
is_a: MONDO:0002073 ! malignant pineal area germ cell neoplasm
is_a: MONDO:0003002 ! dysgerminoma (disease)
property_value: exactMatch DOID:5510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335415
property_value: exactMatch NCIT:C7169

[Term]
id: MONDO:0003481
name: dysgerminoma of ovary
def: "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." [NCIT:C8106]
synonym: "dysgerminoma" RELATED [ONCOTREE:ODYS]
synonym: "dysgerminoma of ovary" EXACT [NCIT:C8106]
synonym: "dysgerminoma of the ovary" EXACT [NCIT:C8106]
synonym: "germ cell dysgerminoma of ovary" EXACT [NCIT:C8106]
synonym: "germ cell dysgerminoma of the ovary" EXACT [NCIT:C8106]
synonym: "ovarian dysgerminoma" EXACT [DOID:5511, MONDO:0006333, NCIT:C8106]
synonym: "ovarian germ cell dysgerminoma" EXACT [NCIT:C8106]
synonym: "ovary dysgerminoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5511 {source="MONDO:equivalentTo"}
xref: EFO:1000414 {source="MONDO:equivalentTo"}
xref: NCIT:C8106 {source="DOID:5511", source="MONDO:equivalentTo", source="EFO:1000414"}
xref: ONCOTREE:ODYS {source="MONDO:equivalentTo"}
xref: SCTID:254874008 {source="DOID:5511", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346185 {source="DOID:5511", source="MONDO:equivalentTo", source="NCIT:C8106"}
is_a: MONDO:0003002 {source="DOID:5511", source="MONDO:Redundant", source="NCIT:C8106"} ! dysgerminoma (disease)
is_a: MONDO:0003408 {source="NCIT:C8106"} ! ovarian primitive germ cell tumor
property_value: exactMatch DOID:5511
property_value: exactMatch http://identifiers.org/snomedct/254874008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346185
property_value: exactMatch NCIT:C8106

[Term]
id: MONDO:0003482
name: Pediculus humanus corporis infestation
def: "A infectious disease involving the Pediculus humanus corporis." [MONDO:patterns/infectious_disease_by_agent]
synonym: "body louse infestation" EXACT [DOID:5513]
synonym: "infections, Pediculus humanus corporis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pediculus corporis" EXACT [DOID:5513, MTHICD9_2006:132.1]
synonym: "Pediculus corporis [body louse]" EXACT [DOID:5513, ICD9CM_2006:132.1]
synonym: "Pediculus humanus corporis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pediculus humanus infestation" EXACT [DOID:5513]
xref: DOID:5513 {source="MONDO:equivalentTo"}
xref: ICD10:B85.1 {source="DOID:5513"}
xref: ICD9:132.1 {source="DOID:5513", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:25188002 {source="MONDO:kboom-pr-0.99/0.73/5.27", source="DOID:5513", source="MONDO:equivalentTo"}
xref: UMLS:C0030758 {source="DOID:5513", source="MONDO:equivalentTo"}
is_a: MONDO:0003472 {source="DOID:5513", source="MONDO:Entailed", source="MONDO:Redundant"} ! lice infestation
property_value: exactMatch DOID:5513
property_value: exactMatch http://identifiers.org/snomedct/25188002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030758

[Term]
id: MONDO:0003483
name: obsolete gastric squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006230

[Term]
id: MONDO:0003484
name: obsolete penis squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018352

[Term]
id: MONDO:0003485
name: obsolete colon squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018513

[Term]
id: MONDO:0003486
name: basaloid squamous cell carcinoma
def: "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C54244]
synonym: "basaloid carcinoma" EXACT [DOID:5522, NCIT:C4121]
synonym: "basaloid carcinoma (morphologic abnormality)" EXACT [DOID:5522]
synonym: "basaloid squamous cell carcinoma" EXACT [NCIT:C54244]
synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5522]
xref: DOID:5522 {source="MONDO:equivalentTo"}
xref: ICDO:8083/3 {source="NCIT:C54244"}
xref: NCIT:C54244 {source="DOID:5522", source="MONDO:equivalentTo"}
xref: UMLS:C1266005 {source="DOID:5522", source="MONDO:equivalentTo", source="NCIT:C54244"}
is_a: MONDO:0005096 {source="DOID:5522", source="MONDOLEX:0003486", source="NCIT:C54244"} ! squamous cell carcinoma
is_a: MONDO:0006102 {source="MONDOLEX:0003486", source="NCIT:C54244"} ! basaloid carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128634009
property_value: exactMatch DOID:5522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266005
property_value: exactMatch NCIT:C54244

[Term]
id: MONDO:0003487
name: pseudoglandular squamous cell carcinoma
def: "A squamous cell carcinoma characterized by the formation of gland-like structures." [NCIT:P378]
synonym: "acantholytic squamous cell carcinoma" EXACT [DOID:5524]
synonym: "adenoacanthoma" EXACT [DOID:5524]
synonym: "adenocarcinoma with squamous metaplasia" EXACT [DOID:5524]
synonym: "adenocarcinoma with squamous metaplasia (morphologic abnormality)" EXACT [DOID:5524]
synonym: "adenoid squamous carcinoma" EXACT [NCIT:C4106]
synonym: "adenoid squamous cell carcinoma" EXACT [NCIT:C4106]
synonym: "adenoid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5524]
synonym: "pharyngeal tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pseudoglandular epidermoid carcinoma" EXACT [NCIT:C4106]
synonym: "pseudoglandular epidermoid cell carcinoma" EXACT [NCIT:C4106]
synonym: "pseudoglandular squamous carcinoma" EXACT [DOID:5524, NCIT:C4106]
synonym: "pseudoglandular squamous cell carcinoma" EXACT [NCIT:C4106]
xref: DOID:5524 {source="MONDO:equivalentTo"}
xref: ICDO:8075/3 {source="NCIT:C4106"}
xref: NCIT:C4106 {source="DOID:5524", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.20"}
xref: SCTID:403901001 {source="MONDO:kboom-pr-1.00/0.91/27.46", source="DOID:5524", source="MONDO:equivalentTo"}
xref: UMLS:C0334250 {source="DOID:5524", source="MONDO:equivalentTo", source="NCIT:C4106"}
xref: UMLS:C0334393 {source="MEDGEN:kboom-pr98-c99", source="DOID:5524", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="DOID:5524/inferred", source="MONDO:Redundant", source="NCIT:C4106", source="linkedlifedata"} ! squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0000535 {source="DOID:5524"} ! tonsil squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/15176003
property_value: closeMatch http://identifiers.org/snomedct/85956000
property_value: closeMatch NCIT:C4200
property_value: exactMatch DOID:5524
property_value: exactMatch http://identifiers.org/snomedct/403901001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334393
property_value: exactMatch NCIT:C4106

[Term]
id: MONDO:0003488
name: obsolete anal squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006082

[Term]
id: MONDO:0003489
name: obsolete middle ear squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006303

[Term]
id: MONDO:0003490
name: ampulla of vater squamous cell carcinoma
def: "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27417]
synonym: "ampulla of Vater squamous cell carcinoma" EXACT [NCIT:C27417]
synonym: "hepatopancreatic ampulla squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5527 {source="MONDO:equivalentTo"}
xref: NCIT:C27417 {source="MONDO:equivalentTo", source="DOID:5527", source="exact-label-match"}
xref: UMLS:C1332251 {source="MONDO:equivalentTo", source="DOID:5527", source="NCIT:C27417"}
is_a: MONDO:0006203 ! extrahepatic bile duct squamous cell carcinoma
is_a: MONDO:0017590 {source="DOID:5527", source="MONDO:Redundant", source="NCIT:C27417"} ! carcinoma of the ampulla of vater
is_a: MONDO:0018509 ! squamous cell carcinoma of the small intestine
property_value: exactMatch DOID:5527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332251
property_value: exactMatch NCIT:C27417

[Term]
id: MONDO:0003491
name: obsolete rectum squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018515

[Term]
id: MONDO:0003492
name: lacrimal gland squamous cell carcinoma
def: "A squamous cell carcinoma that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "epidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6092]
synonym: "epidermoid carcinoma of the lacrimal gland" EXACT [DOID:5529, NCIT:C6092]
synonym: "lacrimal gland epidermoid carcinoma" EXACT [NCIT:C6092]
synonym: "lacrimal gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6092]
synonym: "squamous cell carcinoma of lacrimal gland" EXACT [DOID:5529, NCIT:C6092]
synonym: "squamous cell carcinoma of the lacrimal gland" EXACT [NCIT:C6092]
xref: DOID:5529 {source="MONDO:equivalentTo"}
xref: NCIT:C6092 {source="MONDO:equivalentTo", source="DOID:5529", source="exact-label-match"}
xref: UMLS:C1334360 {source="MONDO:equivalentTo", source="NCIT:C6092", source="DOID:5529"}
is_a: MONDO:0002463 {source="DOID:5529", source="MONDO:Redundant", source="NCIT:C6092"} ! lacrimal gland carcinoma
is_a: MONDO:0010150 ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:5529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334360
property_value: exactMatch NCIT:C6092

[Term]
id: MONDO:0003493
name: thymus squamous cell carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." [NCIT:C6455]
synonym: "epidermoid thymic carcinoma" EXACT [DOID:5530, NCIT:C6455]
synonym: "squamous cell carcinoma of the Thymus" EXACT [NCIT:C6455]
synonym: "squamous cell carcinoma of Thymus" EXACT [NCIT:C6455]
synonym: "thymic squamous cell carcinoma" EXACT [MONDO:0006454, NCIT:C6455]
synonym: "Thymus squamous cell carcinoma" EXACT [NCIT:C6455]
synonym: "thymus squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5530 {source="MONDO:equivalentTo"}
xref: EFO:1000579 {source="MONDO:equivalentTo"}
xref: NCIT:C6455 {source="DOID:5530", source="MONDO:kboom-pr-1.00/0.79/5.41", source="MONDO:equivalentTo", source="EFO:1000579"}
xref: UMLS:C1336082 {source="DOID:5530", source="MONDO:equivalentTo", source="NCIT:C6455"}
is_a: MONDO:0005096 {source="DOID:5530", source="EFO:1000579", source="MONDO:Redundant", source="MONDOLEX:0003493", source="NCIT:C6455"} ! squamous cell carcinoma
is_a: MONDO:0006451 {source="DOID:5530", source="MONDO:Redundant", source="MONDOLEX:0003493", source="NCIT:C6455"} ! thymic carcinoma
property_value: exactMatch DOID:5530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336082
property_value: exactMatch NCIT:C6455

[Term]
id: MONDO:0003494
name: ovarian squamous cell carcinoma
def: "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." [NCIT:C40093]
synonym: "ovarian squamous cell cancer" EXACT [NCIT:C40093]
synonym: "ovarian squamous cell carcinoma" EXACT [MONDO:0006342, NCIT:C40093]
synonym: "ovary squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5531 {source="MONDO:equivalentTo"}
xref: EFO:1000432 {source="MONDO:equivalentTo"}
xref: NCIT:C40093 {source="DOID:5531", source="EFO:1000432", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2019443 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40093", source="MONDO:equivalentTo"}
is_a: MONDO:0003495 ! ovarian squamous cell neoplasm
is_a: MONDO:0005096 {source="EFO:1000432", source="MONDO:Redundant", source="MONDOLEX:0003494", source="NCIT:C40093"} ! squamous cell carcinoma
is_a: MONDO:0005140 {source="DOID:5531", source="EFO:1000432", source="MONDO:Entailed", source="NCIT:C40093"} ! ovarian carcinoma
property_value: exactMatch DOID:5531
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2019443
property_value: exactMatch NCIT:C40093

[Term]
id: MONDO:0003495
name: ovarian squamous cell neoplasm
def: "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." [NCIT:C40092]
synonym: "ovarian squamous cell neoplasm" EXACT [NCIT:C40092]
synonym: "ovarian squamous cell tumor" EXACT [NCIT:C40092]
synonym: "ovary squamous cell neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5532 {source="MONDO:equivalentTo"}
xref: NCIT:C40092 {source="DOID:5532", source="MONDO:equivalentTo"}
xref: UMLS:C1518739 {source="NCIT:C40092", source="DOID:5532", source="MONDO:equivalentTo"}
is_a: MONDO:0002229 {source="DOID:5532", source="MONDO:Redundant", source="NCIT:C40092"} ! ovarian epithelial tumor
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40092"} ! squamous cell neoplasm
property_value: exactMatch DOID:5532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518739
property_value: exactMatch NCIT:C40092

[Term]
id: MONDO:0003496
name: obsolete endometrial squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006198

[Term]
id: MONDO:0003497
name: renal pelvis squamous cell carcinoma
def: "A squamous cell carcinoma that involves the renal pelvis." [MONDO:patterns/location]
synonym: "epidermoid carcinoma of kidney pelvis" EXACT [NCIT:C7732]
synonym: "epidermoid carcinoma of renal pelvis" EXACT [NCIT:C7732]
synonym: "epidermoid carcinoma of the kidney pelvis" EXACT [DOID:5534, NCIT:C7732]
synonym: "epidermoid carcinoma of the renal pelvis" EXACT [NCIT:C7732]
synonym: "kidney pelvis epidermoid carcinoma" EXACT [NCIT:C7732]
synonym: "kidney pelvis squamous cell carcinoma" EXACT [NCIT:C7732]
synonym: "kidney renal pelvis squamous cell cancer" EXACT [NCIT:C7732]
synonym: "renal pelvis epidermoid carcinoma" EXACT [NCIT:C7732]
synonym: "renal pelvis squamous cell cancer" EXACT [NCIT:C7732]
synonym: "renal pelvis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7732]
synonym: "squamous cell carcinoma of kidney pelvis" EXACT [NCIT:C7732]
synonym: "squamous cell carcinoma of renal pelvis" EXACT [DOID:5534, NCIT:C7732]
synonym: "squamous cell carcinoma of the kidney pelvis" EXACT [NCIT:C7732]
synonym: "squamous cell carcinoma of the renal pelvis" EXACT [NCIT:C7732]
xref: DOID:5534 {source="MONDO:equivalentTo"}
xref: NCIT:C7732 {source="DOID:5534", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0238409 {source="DOID:5534", source="MONDO:equivalentTo", source="NCIT:C7732"}
is_a: MONDO:0005096 {source="DOID:5534", source="MONDO:Redundant", source="NCIT:C7732", source="indirect"} ! squamous cell carcinoma
is_a: MONDO:0005519 {source="DOID:5534", source="MONDO:Redundant", source="MONDOLEX:0003497", source="NCIT:C7732"} ! renal pelvis carcinoma
property_value: exactMatch DOID:5534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238409
property_value: exactMatch NCIT:C7732

[Term]
id: MONDO:0003498
name: obsolete gallbladder squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006220

[Term]
id: MONDO:0003499
name: sarcomatoid squamous cell skin carcinoma
def: "A squamous cell carcinoma of the skin with a prominent spindle cell component." [NCIT:C4666]
synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [DOID:5536, NCIT:C27084]
synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [DOID:5536, NCIT:C4666]
synonym: "spindle cell squamous carcinoma of skin" EXACT [NCIT:C4666]
synonym: "spindle cell squamous carcinoma of the skin" EXACT [NCIT:C4666]
synonym: "spindle cell squamous cell carcinoma" EXACT [DOID:5536]
synonym: "squamous cell carcinoma, sarcomatoid" EXACT EXCLUDE [DOID:5536]
xref: DOID:5536 {source="MONDO:equivalentTo"}
xref: NCIT:C4666 {source="MONDO:equivalentTo", source="DOID:5536", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:254653005 {source="MONDO:equivalentTo", source="DOID:5536", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0349656 {source="MONDO:equivalentTo", source="DOID:5536", source="NCIT:C4666"}
is_a: MONDO:0002529 {source="DOID:5536", source="MONDOLEX:0003499", source="NCIT:C4666", source="linkedlifedata"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4666"} ! keratinizing squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/10288008
property_value: exactMatch DOID:5536
property_value: exactMatch http://identifiers.org/snomedct/254653005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349656
property_value: exactMatch NCIT:C4666

[Term]
id: MONDO:0003500
name: squamous cell bile duct carcinoma
def: "A squamous cell carcinoma that involves the bile duct." [MONDO:patterns/location]
synonym: "bile duct squamous cell carcinoma" EXACT [DOID:5537, MONDO:patterns/location, NCIT:C5777]
xref: DOID:5537 {source="MONDO:equivalentTo"}
xref: UMLS:C0861861 {source="DOID:5537", source="MONDO:equivalentTo"}
is_a: MONDO:0005496 {source="DOID:5537", source="MONDO:Redundant", source="MONDOLEX:0003500"} ! bile duct carcinoma
is_a: MONDO:0018534 ! squamous cell carcinoma of liver and intrahepatic biliary tract
property_value: exactMatch DOID:5537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861861

[Term]
id: MONDO:0003501
name: external ear squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the skin of the external ear." [NCIT:C6083]
synonym: "epidermoid carcinoma of external Ear" EXACT [NCIT:C6083]
synonym: "epidermoid carcinoma of the external Ear" EXACT [NCIT:C6083]
synonym: "epidermoid carcinoma of the external ear" EXACT [DOID:5538, NCIT:C6083]
synonym: "external Ear epidermoid carcinoma" EXACT [NCIT:C6083]
synonym: "external Ear squamous cell carcinoma" EXACT [NCIT:C6083]
synonym: "external ear squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of external Ear" EXACT [NCIT:C6083]
synonym: "squamous cell carcinoma of external ear" RELATED [DOID:5538]
synonym: "squamous cell carcinoma of the external Ear" EXACT [NCIT:C6083]
xref: DOID:5538 {source="MONDO:equivalentTo"}
xref: NCIT:C6083 {source="MONDO:equivalentTo", source="DOID:5538", source="exact-label-match"}
xref: UMLS:C1333494 {source="MONDO:equivalentTo", source="DOID:5538", source="NCIT:C6083"}
is_a: MONDO:0002944 {source="DOID:5538", source="MONDO:Redundant", source="NCIT:C6083"} ! external ear carcinoma
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C6083/inferred"} ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:5538
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333494
property_value: exactMatch NCIT:C6083

[Term]
id: MONDO:0003502
name: ureter squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the ureter." [NCIT:C6154]
synonym: "epidermoid carcinoma of the ureter" EXACT [NCIT:C6154]
synonym: "epidermoid carcinoma of ureter" EXACT [NCIT:C6154]
synonym: "squamous cell carcinoma of the ureter" EXACT [NCIT:C6154]
synonym: "squamous cell carcinoma of ureter" EXACT [NCIT:C6154]
synonym: "ureter epidermoid carcinoma" EXACT [NCIT:C6154]
synonym: "ureter squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6154]
synonym: "ureteral epidermoid carcinoma" EXACT [DOID:5539, NCIT:C6154]
synonym: "ureteral squamous cell carcinoma" EXACT [NCIT:C6154]
xref: DOID:5539 {source="MONDO:equivalentTo"}
xref: NCIT:C6154 {source="MONDO:equivalentTo", source="DOID:5539", source="exact-label-match"}
xref: UMLS:C1336879 {source="NCIT:C6154", source="MONDO:equivalentTo", source="DOID:5539"}
is_a: MONDO:0005096 {source="DOID:5539", source="MONDO:Redundant", source="MONDOLEX:0003502", source="NCIT:C6154"} ! squamous cell carcinoma
is_a: MONDO:0006481 {source="DOID:5539", source="MONDO:Redundant", source="MONDOLEX:0003502", source="NCIT:C6154"} ! ureter carcinoma
property_value: exactMatch DOID:5539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336879
property_value: exactMatch NCIT:C6154

[Term]
id: MONDO:0003503
name: fallopian tube squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the fallopian tube." [NCIT:C6282]
synonym: "fallopian tube squamous cell cancer" EXACT [NCIT:C6282]
synonym: "fallopian tube squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6282]
synonym: "squamous cell carcinoma of fallopian tube" EXACT [NCIT:C6282]
synonym: "squamous cell carcinoma of the fallopian tube" EXACT [DOID:5540, NCIT:C6282]
xref: DOID:5540 {source="MONDO:equivalentTo"}
xref: NCIT:C6282 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5540"}
xref: UMLS:C1333596 {source="MONDO:equivalentTo", source="DOID:5540", source="NCIT:C6282"}
is_a: MONDO:0005096 {source="DOID:5540", source="MONDO:Redundant", source="MONDOLEX:0003503", source="NCIT:C6282"} ! squamous cell carcinoma
is_a: MONDO:0006206 {source="DOID:5540", source="MONDO:Redundant", source="MONDOLEX:0003503", source="NCIT:C6282"} ! fallopian tube carcinoma
property_value: exactMatch DOID:5540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333596
property_value: exactMatch NCIT:C6282

[Term]
id: MONDO:0003504
name: anal canal neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5603]
synonym: "anal canal NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5603]
synonym: "anal canal neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal neuroendocrine neoplasm" EXACT [NCIT:C5603]
synonym: "anal neuroendocrine tumor" RELATED [DOID:5545]
synonym: "anus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "anus neuroendocrine tumor" EXACT [MONDO:patterns/location]
synonym: "neuroendocrine neoplasm of anal canal" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of anus" EXACT [NCIT:C5603]
synonym: "neuroendocrine neoplasm of the anus" EXACT [NCIT:C5603]
synonym: "neuroendocrine tumor of anus" EXACT [DOID:5545, NCIT:C5603]
xref: DOID:5545 {source="MONDO:equivalentTo"}
xref: NCIT:C5603 {source="DOID:5545", source="MONDO:equivalentTo"}
xref: SCTID:717917007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.85"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0003646 ! rectum neuroendocrine neoplasm
is_a: MONDO:0007108 ! anal canal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332273
property_value: exactMatch DOID:5545
property_value: exactMatch http://identifiers.org/snomedct/717917007
property_value: exactMatch NCIT:C5603

[Term]
id: MONDO:0003505
name: femoral cancer
def: "A cancer involving a femur." [MONDO:patterns/cancer]
synonym: "cancer of femur" EXACT [MONDO:patterns/cancer]
synonym: "femoral neoplasm" BROAD [DOID:5546]
synonym: "femur cancer" EXACT [MONDO:patterns/location]
synonym: "malignant femur neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of femur" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of femur" BROAD [DOID:5546]
xref: DOID:5546 {source="MONDO:equivalentTo"}
xref: EFO:0007270 {source="MONDO:equivalentTo"}
xref: MESH:D005266 {source="DOID:5546", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0000952 ! cancer of long bone of lower limb
is_a: MONDO:0021579 ! neoplasm of femur
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015807
property_value: exactMatch DOID:5546
property_value: exactMatch http://identifiers.org/mesh/D005266

[Term]
id: MONDO:0003506
name: pulmonary artery choriocarcinoma
def: "A rare choriocarcinoma that arises from a pulmonary artery." [NCIT:C5381]
synonym: "choriocarcinoma of pulmonary artery" EXACT [NCIT:C5381]
synonym: "choriocarcinoma of the pulmonary artery" EXACT [NCIT:C5381]
synonym: "chorioepithelioma of pulmonary artery" EXACT [NCIT:C5381]
synonym: "chorioepithelioma of the pulmonary artery" EXACT [NCIT:C5381]
synonym: "pulmonary artery choriocarcinoma" EXACT [NCIT:C5381]
synonym: "pulmonary artery choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pulmonary artery chorioepithelioma" EXACT [NCIT:C5381]
synonym: "pulmonary artery syncytioma" EXACT [NCIT:C5381]
synonym: "syncytioma of pulmonary artery" EXACT [DOID:5547, NCIT:C5381]
synonym: "syncytioma of the pulmonary artery" EXACT [NCIT:C5381]
xref: DOID:5547 {source="MONDO:equivalentTo"}
xref: NCIT:C5381 {source="MONDO:equivalentTo", source="DOID:5547", source="exact-label-match"}
xref: UMLS:C1335571 {source="MONDO:equivalentTo", source="DOID:5547", source="NCIT:C5381"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0005207 {source="DOID:5547", source="MONDO:Redundant", source="NCIT:C5381"} ! choriocarcinoma (disease)
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C5381"} ! malignant germ cell tumor
is_a: MONDO:0040676 ! great vessel cancer
property_value: exactMatch DOID:5547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335571
property_value: exactMatch NCIT:C5381

[Term]
id: MONDO:0003507
name: choriocarcinoma of ovary
def: "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." [NCIT:C4515]
synonym: "choriocarcinoma of ovary" EXACT [NCIT:C4515]
synonym: "choriocarcinoma of the ovary" EXACT [NCIT:C4515]
synonym: "germ cell choriocarcinoma of ovary" EXACT [NCIT:C4515]
synonym: "germ cell choriocarcinoma of the ovary" EXACT [NCIT:C4515]
synonym: "ovarian choriocarcinoma" EXACT [DOID:5550, MONDO:0006332, NCIT:C4515]
synonym: "ovarian germ cell choriocarcinoma" EXACT [NCIT:C4515]
synonym: "ovary choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5550 {source="MONDO:equivalentTo"}
xref: EFO:1000413 {source="MONDO:equivalentTo"}
xref: NCIT:C4515 {source="MONDO:equivalentTo", source="EFO:1000413", source="DOID:5550"}
xref: SCTID:254870004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5550"}
xref: UMLS:C0346181 {source="MONDO:equivalentTo", source="NCIT:C4515", source="DOID:5550"}
is_a: MONDO:0005207 {source="DOID:5550", source="EFO:1000413", source="MONDO:Redundant", source="NCIT:C4515", source="linkedlifedata"} ! choriocarcinoma (disease)
is_a: MONDO:0018171 {source="DOID:5550", source="MONDO:Redundant", source="linkedlifedata"} ! malignant germ cell tumor of ovary
property_value: exactMatch DOID:5550
property_value: exactMatch http://identifiers.org/snomedct/254870004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346181
property_value: exactMatch NCIT:C4515

[Term]
id: MONDO:0003508
name: choriocarcinoma of testis
def: "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." [NCIT:P378]
synonym: "choriocarcinoma" RELATED [ONCOTREE:TCCA]
synonym: "choriocarcinoma of testis" EXACT [NCIT:C7733]
synonym: "choriocarcinoma of the testis" EXACT [NCIT:C7733]
synonym: "testicular choriocarcinoma" EXACT [DOID:5551, MONDO:0006445, NCIT:C7733]
synonym: "testis choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5551 {source="MONDO:equivalentTo"}
xref: EFO:1000564 {source="MONDO:equivalentTo"}
xref: NCIT:C7733 {source="EFO:1000564", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.83/11.10", source="DOID:5551"}
xref: ONCOTREE:TCCA {source="MONDO:equivalentTo"}
xref: UMLS:C0238449 {source="MONDO:equivalentTo", source="NCIT:C7733", source="DOID:5551"}
is_a: MONDO:0002871 {source="MONDO:Redundant", source="NCIT:C7733"} ! testicular trophoblastic tumor
is_a: MONDO:0003403 {source="MONDO:Entailed", source="NCIT:C7733"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0005207 {source="DOID:5551", source="EFO:1000564", source="MONDO:Redundant", source="NCIT:C7733"} ! choriocarcinoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/147371000119101
property_value: exactMatch DOID:5551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238449
property_value: exactMatch NCIT:C7733

[Term]
id: MONDO:0003509
name: pineal region choriocarcinoma
def: "A choriocarcinoma (disease) that involves the pineal body." [MONDO:patterns/location]
synonym: "choriocarcinoma of pineal area" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of pineal region" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of the pineal area" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of the pineal region" EXACT [NCIT:C6759]
synonym: "pineal area choriocarcinoma" EXACT [NCIT:C6759]
synonym: "pineal choriocarcinoma" EXACT [DOID:5553, NCIT:C6759]
xref: DOID:5553 {source="MONDO:equivalentTo"}
xref: NCIT:C6759 {source="DOID:5553", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335414 {source="DOID:5553", source="MONDO:equivalentTo", source="NCIT:C6759"}
is_a: MONDO:0002073 {source="DOID:5553", source="MONDO:Redundant", source="NCIT:C6759"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0016740 {source="MONDO:Redundant", source="NCIT:C6759"} ! choriocarcinoma of the central nervous system
property_value: exactMatch DOID:5553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335414
property_value: exactMatch NCIT:C6759

[Term]
id: MONDO:0003510
name: malignant testicular germ cell tumor
def: "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." [NCIT:C9063]
synonym: "malignant germ cell neoplasm of testis" EXACT [NCIT:C9063]
synonym: "malignant germ cell neoplasm of the testis" EXACT [NCIT:C9063]
synonym: "malignant germ cell tumor of testis" EXACT [DOID:5556, NCIT:C9063]
synonym: "malignant germ cell tumor of the testis" EXACT [NCIT:C9063]
synonym: "malignant testicular germ cell neoplasm" EXACT [NCIT:C9063]
synonym: "malignant testicular germ cell tumor" EXACT [NCIT:C9063]
synonym: "testicular ca. (no germ/tropho.)" EXACT [NCIT:C9063]
synonym: "testicular cancer" EXACT [NCIT:C9063]
synonym: "testicular cancer (excluding germ cell or trophoblastic cancer)" EXACT [NCIT:C9063]
synonym: "testicular germ cell cancer" EXACT [NCIT:C9063]
synonym: "testicular malignant germ cell cancer" RELATED [DOID:5556]
xref: DOID:5556 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9063 {source="DOID:5556", source="MONDO:equivalentTo"}
xref: SCTID:713646001 {source="MONDO:kboom-pr-1.00/0.92/6.36", source="DOID:5556", source="MONDO:equivalentTo"}
xref: UMLS:C0855197 {source="DOID:5556", source="MONDO:equivalentTo", source="NCIT:C9063"}
is_a: MONDO:0005447 {source="DOID:5556/inferred", source="MONDO:Redundant", source="MONDOLEX:0003510", source="NCIT:C9063", source="linkedlifedata"} ! testicular cancer
is_a: MONDO:0006290 {source="MONDO:Redundant", source="MONDOLEX:0003510", source="NCIT:C9063"} ! malignant germ cell tumor
is_a: MONDO:0010108 {source="DOID:5556", source="MONDO:Redundant", source="MONDOLEX:0003510", source="NCIT:C9063", source="linkedlifedata"} ! testicular germ cell tumor
property_value: exactMatch DOID:5556
property_value: exactMatch http://identifiers.org/snomedct/713646001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855197
property_value: exactMatch NCIT:C9063

[Term]
id: MONDO:0003511
name: obsolete testicular germ cell cancer
is_obsolete: true
consider: MONDO:0010108

[Term]
id: MONDO:0003512
name: mediastinal mesenchymal tumor
def: "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378]
synonym: "mediastinal soft tissue neoplasm" EXACT [NCIT:C6637]
synonym: "mediastinal soft tissue tumor" EXACT [NCIT:C6637]
synonym: "soft tissue neoplasm of mediastinum" EXACT [NCIT:C6637]
synonym: "soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6637]
synonym: "soft tissue tumor of mediastinum" EXACT [DOID:5560, NCIT:C6637]
synonym: "soft tissue tumor of the mediastinum" EXACT [NCIT:C6637]
xref: DOID:5560 {source="MONDO:equivalentTo"}
xref: NCIT:C6637 {source="MONDO:equivalentTo", source="DOID:5560", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334669 {source="MONDO:equivalentTo", source="DOID:5560", source="NCIT:C6637"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C6637"} ! soft tissue neoplasm
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6637"} ! neoplasm of mediastinum
relationship: excluded_subClassOf MONDO:0005843 {source="DOID:5560"} ! mediastinal cancer
property_value: exactMatch DOID:5560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334669
property_value: exactMatch NCIT:C6637

[Term]
id: MONDO:0003513
name: gastric teratoma
def: "A mature or immature teratoma that arises from the stomach." [NCIT:C5259]
synonym: "gastric teratoma" EXACT [NCIT:C5259]
synonym: "stomach teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of stomach" EXACT [DOID:5561, NCIT:C5259]
synonym: "teratoma of the stomach" EXACT [NCIT:C5259]
xref: DOID:5561 {source="MONDO:equivalentTo"}
xref: NCIT:C5259 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5561"}
xref: UMLS:C1333790 {source="MONDO:equivalentTo", source="NCIT:C5259", source="DOID:5561"}
is_a: MONDO:0002601 {source="DOID:5561", source="MONDO:Redundant", source="NCIT:C5259"} ! teratoma
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5259/inferred", source="OWLReasoner:2017"} ! gastric neoplasm
property_value: exactMatch DOID:5561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333790
property_value: exactMatch NCIT:C5259

[Term]
id: MONDO:0003514
name: malignant teratoma
def: "A malignant form of teratoma." [MONDO:patterns/malignant]
synonym: "immature teratoma" EXACT EXCLUDE [DOID:5563]
synonym: "malignant extragonadal teratoma" EXACT [DOID:5563]
synonym: "primary malignant extragonadal teratoma" EXACT EXCLUDE [DOID:5563]
synonym: "teratoma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:5563 {source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="DOID:5563", source="MONDO:Entailed", source="MONDO:Redundant"} ! teratoma
is_a: MONDO:0006290 ! malignant germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/189847002
property_value: closeMatch http://identifiers.org/snomedct/19467007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334520
property_value: exactMatch DOID:5563

[Term]
id: MONDO:0003515
name: fallopian tube teratoma
def: "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." [NCIT:P378]
synonym: "fallopian tube teratoma" EXACT [MONDO:patterns/location]
xref: DOID:5564 {source="MONDO:equivalentTo"}
xref: NCIT:C40131 {source="DOID:5564", source="MONDO:equivalentTo"}
xref: UMLS:C1517127 {source="DOID:5564", source="MONDO:equivalentTo", source="NCIT:C40131"}
is_a: MONDO:0002601 {source="DOID:5564", source="MONDO:Redundant", source="NCIT:C40131"} ! teratoma
is_a: MONDO:0003392 {source="DOID:5564", source="MONDO:Redundant", source="NCIT:C40131"} ! fallopian tube germ cell tumor
property_value: exactMatch DOID:5564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517127
property_value: exactMatch NCIT:C40131

[Term]
id: MONDO:0003516
name: adult teratoma
def: "A teratoma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult teratoma" EXACT [NCIT:C9013]
synonym: "adult teratoma, NOS" RELATED EXCLUDE [DOID:5565]
synonym: "teratoma" EXACT [NCIT:C9013]
synonym: "teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5565 {source="MONDO:equivalentTo"}
xref: NCIT:C9013 {source="DOID:5565", source="MONDO:equivalentTo"}
xref: UMLS:C1368898 {source="DOID:5565", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="DOID:5565", source="MONDO:Redundant", source="NCIT:C9013"} ! teratoma
is_a: MONDO:0044878 ! adult germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/42717009
property_value: exactMatch DOID:5565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368898
property_value: exactMatch NCIT:C9013

[Term]
id: MONDO:0003517
name: mature teratoma
def: "A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." [NCIT:C9015]
synonym: "mature teratoma" EXACT [DOID:5566, NCIT:C9015]
xref: DOID:5566 {source="MONDO:equivalentTo"}
xref: ICDO:9080/0 {source="NCIT:C9015"}
xref: NCIT:C9015 {source="DOID:5566", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:VMT {source="MONDO:equivalentTo"}
xref: SCTID:254875009 {source="MONDO:equivalentTo"}
xref: UMLS:C1368910 {source="DOID:5566", source="NCIT:C9015", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="DOID:5566", source="NCIT:C9015"} ! teratoma
property_value: closeMatch http://identifiers.org/snomedct/42717009
property_value: closeMatch http://identifiers.org/snomedct/55818009
property_value: exactMatch DOID:5566
property_value: exactMatch http://identifiers.org/snomedct/254875009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368910
property_value: exactMatch NCIT:C9015

[Term]
id: MONDO:0003518
name: mediastinum teratoma
def: "A teratoma that involves the mediastinum." [MONDO:patterns/location]
synonym: "mediastinum teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of mediastinum" EXACT [DOID:5568, NCIT:C6438]
xref: DOID:5568 {source="MONDO:equivalentTo"}
xref: NCIT:C6438 {source="DOID:5568", source="MONDO:equivalentTo"}
xref: UMLS:C1334682 {source="DOID:5568", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 ! teratoma
is_a: MONDO:0020539 ! extragonadal non-dysgerminomatous germ cell tumor
is_a: MONDO:0021067 ! mediastinal germ cell tumor
property_value: exactMatch DOID:5568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334682
property_value: exactMatch NCIT:C6438

[Term]
id: MONDO:0003519
name: malignant syringoma
def: "A malignant form of syringoma." [MONDO:patterns/malignant]
synonym: "MAC" RELATED [ONCOTREE:MAC]
synonym: "microcystic adnexal carcinoma" EXACT [DOID:5569, NCIT:C7581]
synonym: "microcystic adnexal carcinoma of skin" EXACT [DOID:5569]
synonym: "syringoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "syringomatous carcinoma" EXACT [DOID:5569]
xref: DOID:5569 {source="MONDO:equivalentTo"}
xref: GARD:0010438 {source="MONDO:equivalentTo"}
xref: NCIT:C7581 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MAC {source="MONDO:equivalentTo"}
xref: SCTID:254712007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/13.81"}
xref: UMLS:C0346027 {source="MONDO:equivalentTo"}
is_a: MONDO:0002191 ! syringoma
is_a: MONDO:0002206 ! sweat gland cancer
relationship: excluded_subClassOf MONDO:0005506 {source="DOID:5569"} ! eccrine sweat gland cancer
property_value: exactMatch DOID:5569
property_value: exactMatch http://identifiers.org/snomedct/254712007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346027
property_value: exactMatch NCIT:C7581

[Term]
id: MONDO:0003520
name: obsolete malignant acrospiroma
is_obsolete: true
replaced_by: MONDO:0024245

[Term]
id: MONDO:0003521
name: obsolete VIPoma
is_obsolete: true
replaced_by: MONDO:0019960

[Term]
id: MONDO:0003522
name: male orgasm disorder
def: "Persistent delay or absence in orgasm not accounted for by a medical reason." [NCIT:P378]
synonym: "inhibited male orgasm" EXACT [DOID:5576, NCIT:C34959]
synonym: "male orgasmic disorder" EXACT [DOID:5576, NCIT:C34959]
xref: COHD:444268 {source="MONDO:equivalentTo"}
xref: DOID:5576 {source="MONDO:equivalentTo"}
xref: ICD10:F52.32 {source="DOID:5576", source="MONDO:equivalentTo"}
xref: NCIT:C34959 {source="DOID:5576", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:81903006 {source="DOID:5576", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0040674 ! orgasm disorder
relationship: excluded_subClassOf MONDO:0003150 {source="DOID:5576"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/153261000119109
property_value: closeMatch http://identifiers.org/snomedct/191795002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033949
property_value: exactMatch DOID:5576
property_value: exactMatch http://identifiers.org/snomedct/81903006
property_value: exactMatch NCIT:C34959

[Term]
id: MONDO:0003523
name: gastrin-producing neuroendocrine tumor
def: "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." [NCIT:C3050]
synonym: "G cell tumor" EXACT [NCIT:C3050]
synonym: "G-cell gastrin producing tumor" EXACT [NCIT:C3050]
synonym: "G-cell tumor" EXACT [NCIT:C3050]
synonym: "gastrin cell tumour" EXACT [DOID:5577]
synonym: "gastrin secreting tumor" EXACT [DOID:5577, NCIT:C3050]
synonym: "gastrin-producing NET" EXACT [NCIT:C3050]
synonym: "gastrin-producing neuroendocrine tumor" EXACT [NCIT:C3050]
synonym: "gastrinoma" EXACT [NCIT:C3050]
synonym: "malignant gastrinoma" EXACT [DOID:5577]
xref: DOID:5577 {source="MONDO:equivalentTo"}
xref: ICDO:8153/1 {source="NCIT:C3050"}
xref: NCIT:C3050 {source="DOID:5577", source="MONDO:equivalentTo"}
xref: UMLS:CN206461 {source="MONDO:equivalentTo"}
is_a: MONDO:0000386 {source="NCIT:C3050"} ! digestive system neuroendocrine tumor, grade 1/2
property_value: closeMatch http://identifiers.org/snomedct/134156006
property_value: closeMatch http://identifiers.org/snomedct/16189002
property_value: closeMatch http://identifiers.org/snomedct/302824004
property_value: exactMatch DOID:5577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206461
property_value: exactMatch NCIT:C3050

[Term]
id: MONDO:0003524
name: gastric gastrin-producing neuroendocrine tumor
def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome." [NCIT:C27444]
synonym: "gastric G-cell gastrin producing tumor" EXACT [DOID:5579]
synonym: "gastric gastrin producing tumor" EXACT [NCIT:C27444]
synonym: "gastric gastrin-producing NET" EXACT [NCIT:C27444]
synonym: "gastric gastrin-producing neuroendocrine tumor" EXACT [NCIT:C27444]
synonym: "gastric gastrinoma" RELATED [DOID:5579]
synonym: "gastrin producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444]
synonym: "gastrin producing tumor of the stomach" EXACT [NCIT:C27444]
synonym: "gastrin-producing neuroendocrine tumor of stomach" EXACT [MONDO:design_pattern]
synonym: "gastrin-producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444]
synonym: "stomach gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5579 {source="MONDO:equivalentTo"}
xref: NCIT:C27444 {source="DOID:5579", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1333767 {source="DOID:5579", source="NCIT:C27444", source="MONDO:equivalentTo"}
is_a: MONDO:0003523 {source="MONDO:Redundant", source="NCIT:C27444"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0015062 {source="NCIT:C27444"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0001056 {source="DOID:5579"} ! gastric cancer
property_value: exactMatch DOID:5579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333767
property_value: exactMatch NCIT:C27444

[Term]
id: MONDO:0003525
name: pancreatic gastrin-producing neuroendocrine tumor
def: "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." [NCIT:C9069]
comment: Editor note: determine difference between NCIT:C95596 and NCIT:C9069
synonym: "gastrin-producing neuroendocrine tumor of pancreas" EXACT [MONDO:design_pattern]
synonym: "islet cell tumor, ulcerogenic" RELATED [MESH:D015408]
synonym: "pancreas gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pancreatic G-cell tumor" EXACT [DOID:5580, NCIT:C9069]
synonym: "pancreatic gastrin producing NET" EXACT [NCIT:C9069]
synonym: "pancreatic gastrin producing tumor" EXACT [NCIT:C9069]
synonym: "pancreatic gastrin-producing neuroendocrine tumor" EXACT [NCIT:C9069]
synonym: "pancreatic gastrinoma" EXACT EXCLUDE [DOID:5580]
xref: DOID:5580 {source="MONDO:equivalentTo"}
xref: MESH:D015408 {source="MONDO:equivalentTo"}
xref: NCIT:C9069 {source="MONDO:equivalentTo", source="DOID:5580"}
xref: UMLS:C1368066 {source="MONDO:equivalentTo", source="DOID:5580"}
is_a: MONDO:0003523 {source="MONDO:Redundant", source="NCIT:C9069"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0019954 {source="MONDOLEX:0003525", source="NCIT:C9069"} ! pancreatic neuroendocrine tumor
property_value: exactMatch DOID:5580
property_value: exactMatch http://identifiers.org/mesh/D015408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368066
property_value: exactMatch NCIT:C9069

[Term]
id: MONDO:0003526
name: obsolete lung giant cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006275

[Term]
id: MONDO:0003527
name: obsolete Ferguson-Smith tumor
def: "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." []
is_obsolete: true
replaced_by: MONDO:0007566

[Term]
id: MONDO:0003528
name: Volkmann contracture
def: "An ischemic contracture of the forearm that most often occurs secondary to trauma." [NCIT:P378]
synonym: "Volkmann's ischemic contracture" EXACT [DOID:5587, ICD9CM_2006:958.6, NCIT:C35130]
xref: DOID:5587 {source="MONDO:equivalentTo"}
xref: ICD10:T79.6 {source="DOID:5587"}
xref: ICD9:958.6 {source="DOID:5587", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D054061 {source="DOID:5587", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35130 {source="DOID:5587", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:111247001 {source="DOID:5587", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0042951 {source="DOID:5587", source="NCIT:C35130", source="MONDO:equivalentTo"}
is_a: MONDO:0020120 {source="linkedlifedata/inferred"} ! skeletal muscle disease
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:5587"} ! connective tissue disease
property_value: closeMatch http://identifiers.org/snomedct/157667008
property_value: exactMatch DOID:5587
property_value: exactMatch http://identifiers.org/mesh/D054061
property_value: exactMatch http://identifiers.org/snomedct/111247001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042951
property_value: exactMatch NCIT:C35130

[Term]
id: MONDO:0003529
name: acute pyelonephritis
def: "Sudden onset pyelonephritis." [NCIT:P378]
synonym: "pyelonephritis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:4280571 {source="MONDO:equivalentTo"}
xref: DOID:559 {source="MONDO:equivalentTo"}
xref: ICD10:N10 {source="DOID:559", source="MONDO:equivalentTo"}
xref: ICD9:590.1 {source="DOID:559"}
xref: NCIT:C123215 {source="DOID:559", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:36689008 {source="MONDO:kboom-pr-1.00/0.92/15.45", source="DOID:559", source="MONDO:equivalentTo"}
xref: UMLS:C0520575 {source="DOID:559", source="MONDO:equivalentTo", source="NCIT:C123215"}
is_a: MONDO:0006939 {source="DOID:559", source="MONDO:Redundant", source="NCIT:C123215", source="linkedlifedata"} ! pyelonephritis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155862004
property_value: closeMatch http://identifiers.org/snomedct/197771007
property_value: closeMatch http://identifiers.org/snomedct/22352007
property_value: closeMatch http://identifiers.org/snomedct/266620001
property_value: exactMatch DOID:559
property_value: exactMatch http://identifiers.org/snomedct/36689008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520575
property_value: exactMatch NCIT:C123215

[Term]
id: MONDO:0003530
name: aggressive digital papillary adenocarcinoma
xref: DOID:5590 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ADPA {source="MONDO:equivalentTo"}
is_a: MONDO:0044789 ! digital papillary eccrine carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1367789
property_value: exactMatch DOID:5590

[Term]
id: MONDO:0003531
name: papillary eccrine carcinoma
synonym: "digital papillary adenocarcinoma" EXACT [DOID:5591]
synonym: "eccrine papillary adenocarcinoma" RELATED [DOID:5591]
synonym: "papillary apocrine fibroadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "papillary eccrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "papillary eccrine carcinoma" EXACT [NCIT:C27254]
synonym: "tubular apocrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
xref: DOID:5591 {source="MONDO:equivalentTo"}
xref: NCIT:C27254 {source="MONDO:equivalentTo"}
xref: SCTID:254709009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.47/0.20"}
xref: UMLS:C1367774 {source="MONDO:equivalentTo", source="DOID:5591"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="MONDOLEX:0003531", source="NCIT:C27254"} ! papillary adenocarcinoma
is_a: MONDO:0024240 {source="DOID:5591", source="MONDO:Redundant", source="MONDOLEX:0003531", source="NCIT:C27254"} ! eccrine carcinoma
intersection_of: MONDO:0002512 {source="NCIT:C27254"} ! papillary adenocarcinoma
intersection_of: MONDO:0024240 {source="NCIT:C27254"} ! eccrine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128898008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1707880
property_value: exactMatch DOID:5591
property_value: exactMatch http://identifiers.org/snomedct/254709009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367774
property_value: exactMatch NCIT:C27254

[Term]
id: MONDO:0003532
name: breast papillary carcinoma
def: "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." [NCIT:P378]
synonym: "breast papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "breast solid papillary carcinoma" NARROW [DOID:5592]
synonym: "Papillary breast cancer" EXACT [NCIT:C9134]
synonym: "papillary breast carcinoma" EXACT [NCIT:C9134]
synonym: "papillary carcinoma of breast" EXACT [DOID:5592, NCIT:C9134]
synonym: "papillary carcinoma of the breast" EXACT [DOID:5592, NCIT:C9134]
synonym: "solid papillary carcinoma of the breast" NARROW [DOID:5592]
xref: DOID:5592 {source="MONDO:equivalentTo"}
xref: NCIT:C9134 {source="MONDO:equivalentTo"}
xref: UMLS:C1336027 {source="MONDO:equivalentTo", source="DOID:5592"}
xref: UMLS:C3812899 {source="NCIT:C9134", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C9134"} ! papillary adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C9134"} ! breast ductal adenocarcinoma
property_value: exactMatch DOID:5592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3812899
property_value: exactMatch NCIT:C9134

[Term]
id: MONDO:0003533
name: obsolete gastric papillary adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006228

[Term]
id: MONDO:0003534
name: papillary thymic adenocarcinoma
def: "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis." [NCIT:P378]
synonym: "papillary carcinoma of the Thymus" EXACT [DOID:5595, NCIT:C27937]
synonym: "papillary carcinoma of Thymus" EXACT [NCIT:C27937]
synonym: "thymic papillary adenocarcinoma" EXACT [NCIT:C27937]
synonym: "thymic papillary carcinoma" EXACT [NCIT:C27937]
synonym: "thymus papillary adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Thymus papillary carcinoma" EXACT [NCIT:C27937]
xref: DOID:5595 {source="MONDO:equivalentTo"}
xref: NCIT:C27937 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5595", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335327 {source="MONDO:equivalentTo", source="DOID:5595", source="NCIT:C27937"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="MONDOLEX:0003534", source="NCIT:C27937"} ! papillary adenocarcinoma
is_a: MONDO:0003209 {source="DOID:5595", source="MONDO:Redundant", source="MONDOLEX:0003534", source="NCIT:C27937"} ! thymus gland adenocarcinoma
property_value: exactMatch DOID:5595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335327
property_value: exactMatch NCIT:C27937

[Term]
id: MONDO:0003535
name: fallopian tube papillary adenocarcinoma
def: "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern." [NCIT:C6267]
synonym: "fallopian tube papillary adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6267]
synonym: "papillary adenocarcinoma of fallopian tube" EXACT [NCIT:C6267]
synonym: "papillary adenocarcinoma of the fallopian tube" EXACT [DOID:5597, NCIT:C6267]
xref: DOID:5597 {source="MONDO:equivalentTo"}
xref: NCIT:C6267 {source="DOID:5597", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333595 {source="DOID:5597", source="NCIT:C6267", source="MONDO:equivalentTo"}
is_a: MONDO:0002512 {source="DOID:5597", source="MONDO:Redundant", source="MONDOLEX:0003535", source="NCIT:C6267"} ! papillary adenocarcinoma
is_a: MONDO:0002746 {source="DOID:5597", source="MONDO:Redundant", source="MONDOLEX:0003535", source="NCIT:C6267"} ! fallopian tube adenocarcinoma
property_value: exactMatch DOID:5597
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333595
property_value: exactMatch NCIT:C6267

[Term]
id: MONDO:0003536
name: obsolete fallopian tube serous adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006208

[Term]
id: MONDO:0003537
name: precursor T-lymphoblastic lymphoma/leukemia
def: "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8694]
synonym: "precursor T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694]
synonym: "precursor T lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8694]
synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [DOID:5599, NCIT:C8694]
synonym: "T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694]
xref: DOID:5599 {source="MONDO:equivalentTo"}
xref: ICDO:9837/3 {source="NCIT:C8694"}
xref: NCIT:C8694 {source="MONDO:equivalentTo"}
xref: UMLS:C1301359 {source="NCIT:C8694", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003538 {source="DOID:5599", source="MONDO:Redundant", source="NCIT:C8694"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0024615 {source="MONDO:Redundant", source="NCIT:C8694"} ! T-cell and NK-cell neoplasm
intersection_of: MONDO:0003538 ! precursor lymphoblastic lymphoma/leukemia
intersection_of: MONDO:0024615 ! T-cell and NK-cell neoplasm
property_value: exactMatch DOID:5599
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301359
property_value: exactMatch NCIT:C8694

[Term]
id: MONDO:0003538
name: precursor lymphoblastic lymphoma/leukemia
def: "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" [NCIT:P378]
synonym: "precursor lymphoblastic leukemia/lymphoma" EXACT [NCIT:C7055]
synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [NCIT:C7055]
synonym: "precursor lymphoid neoplasm" EXACT [NCIT:C7055]
xref: DOID:5600 {source="MONDO:equivalentTo"}
xref: EFO:0009119 {source="MONDO:equivalentTo"}
xref: NCIT:C7055 {source="DOID:5600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.40"}
xref: UMLS:C1335469 {source="NCIT:C7055", source="DOID:5600", source="MONDO:equivalentTo"}
is_a: MONDO:0005157 {source="EFO:0009119/inferred", source="MONDO:Redundant", source="NCIT:C7055"} ! lymphoid neoplasm
property_value: closeMatch http://identifiers.org/mesh/D054198
property_value: exactMatch DOID:5600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335469
property_value: exactMatch NCIT:C7055

[Term]
id: MONDO:0003539
name: T-cell adult acute lymphocytic leukemia
def: "An acute T-lymphoblastic leukemia occurring in adults." [NCIT:P378]
synonym: "acute Adult T-cell Leukemia-lymphoma" EXACT [DOID:5602]
synonym: "adult acute lymphoblastic leukemia of T cell" EXACT [MONDO:design_pattern]
synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602, NCIT:C9142]
synonym: "adult precursor T-lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "adult T acute lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "adult T-cell acute lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "T Acute Lymphoblastic Leukemia" EXACT [NCIT:C9142]
synonym: "T cell adult acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "T cell adult acute lymphocytic leukemia" EXACT [MONDO:patterns/location]
synonym: "T cell adult ALL" EXACT [NCIT:C9142]
synonym: "T-cell adult ALL" EXACT [NCIT:C9142]
xref: DOID:5602 {source="MONDO:equivalentTo"}
xref: EFO:1001936 {source="MONDO:equivalentTo"}
xref: NCIT:C9142 {source="MONDO:equivalentTo", source="DOID:5602", source="MONDO:kboom-pr-0.97/0.91/1.03"}
xref: UMLS:C0279592 {source="MONDO:equivalentTo", source="DOID:5602", source="NCIT:C9142"}
is_a: MONDO:0003541 {source="DOID:5602", source="MONDO:Redundant", source="MONDOLEX:0003539", source="NCIT:C9142"} ! adult acute lymphoblastic leukemia
is_a: MONDO:0005525 {source="DOID:5602", source="MONDO:Entailed", source="MONDO:Redundant"} ! T-cell leukemia
property_value: exactMatch DOID:5602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279592
property_value: exactMatch NCIT:C9142

[Term]
id: MONDO:0003540
name: acute T cell leukemia
synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183]
synonym: "T-cell acute lymphoblastic leukemia" EXACT EXCLUDE [DOID:5603]
xref: CSP:2004-1600 {source="DOID:5603"}
xref: CSP:2004-1803 {source="DOID:5603"}
xref: DOID:5603 {source="MONDO:equivalentTo"}
xref: ICD10:C91.5 {source="DOID:5603"}
xref: ICD10:C91.50 {source="DOID:5603"}
xref: SCTID:277575008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0005525 {source="DOID:5603"} ! T-cell leukemia
property_value: closeMatch http://identifiers.org/snomedct/188729005
property_value: closeMatch http://identifiers.org/snomedct/77430005
property_value: exactMatch DOID:5603
property_value: exactMatch http://identifiers.org/snomedct/277575008

[Term]
id: MONDO:0003541
name: adult acute lymphoblastic leukemia
def: "An acute lymphoblastic leukemia occurring during adulthood." [NCIT:C4967]
synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C4967]
synonym: "adult acute lymphoblastic leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphocytic leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphogenous leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphoid leukemia" EXACT [DOID:5604, NCIT:C4967]
synonym: "adult ALL" EXACT [NCIT:C4967]
synonym: "adult precursor lymphoblastic leukemia" EXACT [NCIT:C4967]
xref: DOID:5604 {source="MONDO:equivalentTo"}
xref: NCIT:C4967 {source="MONDO:equivalentTo", source="DOID:5604"}
xref: UMLS:C0751606 {source="MONDO:equivalentTo", source="DOID:5604", source="NCIT:C4967"}
is_a: MONDO:0004967 {source="DOID:5604", source="MONDOLEX:0003541", source="NCIT:C4967"} ! acute lymphoblastic leukemia (disease)
property_value: exactMatch DOID:5604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751606
property_value: exactMatch NCIT:C4967

[Term]
id: MONDO:0003542
name: dental pulp calcification
synonym: "pulp calcification" EXACT [CSP2005:0834-4423, DOID:5608]
synonym: "pulp calcifications" EXACT [DOID:5608, MTHICD9_2006:522.2]
synonym: "pulpal calcifications" EXACT [DOID:5608]
xref: DOID:5608 {source="MONDO:equivalentTo"}
xref: ICD10:K04.2 {source="DOID:5608", source="MONDO:directSiblingOf"}
xref: MESH:D003784 {source="MONDO:equivalentTo", source="DOID:5608"}
xref: SCTID:57602001 {source="MONDO:equivalentTo", source="DOID:5608", source="MONDO:kboom-pr-0.81/0.44/0.91"}
xref: UMLS:C0011401 {source="MONDO:equivalentTo", source="DOID:5608"}
is_a: MONDO:0003394 {source="DOID:5608", source="MESH:D003784", source="linkedlifedata"} ! dental pulp disease
property_value: exactMatch DOID:5608
property_value: exactMatch http://identifiers.org/mesh/D003784
property_value: exactMatch http://identifiers.org/snomedct/57602001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011401

[Term]
id: MONDO:0003543
name: trigeminal nerve disease
def: "A disease involving the trigeminal nerve." [MONDO:DesignPattern]
synonym: "disease of trigeminal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trigeminal nerve" EXACT []
synonym: "disorder of the fifth cranial nerve" RELATED []
synonym: "disorder of trigeminal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of trigeminal nerve" RELATED [MONDO:patterns/location_top]
synonym: "disorders of the fifth nerve" RELATED []
synonym: "disorders of the vth cranial nerve" RELATED []
synonym: "trigeminal nerve disease" EXACT [MONDO:patterns/location]
synonym: "trigeminal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trigeminal nerve disorder" EXACT []
xref: DOID:561 {source="MONDO:equivalentTo"}
xref: ICD9:350.8 {source="DOID:561"}
xref: MESH:D020433 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26952 {source="MONDO:equivalentTo"}
xref: SCTID:64309007 {source="MONDO:equivalentTo"}
is_a: MONDO:0003569 {source="DOID:561", source="MESH:D020433/inferred", source="MONDO:Redundant", source="NCIT:C26952", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:561/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029834
property_value: exactMatch DOID:561
property_value: exactMatch http://identifiers.org/mesh/D020433
property_value: exactMatch http://identifiers.org/snomedct/64309007
property_value: exactMatch NCIT:C26952

[Term]
id: MONDO:0003544
name: spinal cord cancer
def: "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." [NCIT:C3572]
synonym: "cancer of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "intraspinal tumor" BROAD [DOID:5612, NCIT:C3382]
synonym: "malignant neoplasm of spinal cord" EXACT [MONDO:patterns/cancer, NCIT:C3572]
synonym: "malignant neoplasm of the spinal cord" EXACT [NCIT:C3572]
synonym: "malignant spinal cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3572]
synonym: "malignant spinal cord tumor" EXACT [NCIT:C3572]
synonym: "malignant tumor of spinal cord" EXACT [NCIT:C3572]
synonym: "malignant tumor of the spinal cord" EXACT [DOID:5612, NCIT:C3572]
synonym: "spinal cancer" EXACT [DOID:5612]
synonym: "spinal cord cancer" EXACT [MONDO:patterns/location]
synonym: "spinal cord neoplasm" BROAD [DOID:5612]
synonym: "spinal neoplasm" RELATED [DOID:5612]
synonym: "spine cancer" EXACT [NCIT:C3572]
synonym: "tumor of the spinal cord" BROAD [DOID:5612, NCIT:C3381]
xref: COHD:4177234 {source="MONDO:equivalentTo"}
xref: DOID:5612 {source="MONDO:equivalentTo"}
xref: ICD10:C72.0 {source="DOID:5612", source="MONDO:equivalentTo"}
xref: ICD9:192.2 {source="DOID:5612", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3572 {source="DOID:5612", source="MONDO:equivalentTo"}
xref: SCTID:363475005 {source="MONDO:kboom-pr-0.89/0.76/0.34", source="DOID:5612", source="MONDO:equivalentTo"}
xref: UMLS:C0153646 {source="MEDGEN:kboom-pr98-c99", source="DOID:5612", source="NCIT:C3572", source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="DOID:5612", source="MONDO:Redundant", source="NCIT:C3572", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C3572"} ! spinal cord neoplasm
property_value: closeMatch http://identifiers.org/mesh/D013120
property_value: closeMatch http://identifiers.org/mesh/D013125
property_value: closeMatch http://identifiers.org/snomedct/126962006
property_value: closeMatch http://identifiers.org/snomedct/709289008
property_value: closeMatch http://identifiers.org/snomedct/94068003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037939
property_value: exactMatch DOID:5612
property_value: exactMatch http://identifiers.org/snomedct/363475005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153646
property_value: exactMatch NCIT:C3572

[Term]
id: MONDO:0003545
name: intradural extramedullary spinal canal neoplasm
def: "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression." [NCIT:C5135]
synonym: "intradural extramedullary neoplasm of spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary neoplasm of the spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal neoplasm" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal tumor" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal tumors" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal neoplasms" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal tumors" EXACT [DOID:5615, NCIT:C5135]
synonym: "intradural extramedullary tumor of spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary tumor of the spinal canal" EXACT [NCIT:C5135]
synonym: "spinal canal intradural extramedullary neoplasm" RELATED [DOID:5615]
xref: DOID:5615 {source="MONDO:equivalentTo"}
xref: NCIT:C5135 {source="MONDO:equivalentTo", source="DOID:5615", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334255 {source="MONDO:equivalentTo", source="NCIT:C5135", source="DOID:5615"}
is_a: MONDO:0002713 ! epidural spinal canal neoplasm
property_value: exactMatch DOID:5615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334255
property_value: exactMatch NCIT:C5135

[Term]
id: MONDO:0003546
name: third cranial nerve disease
def: "A disease involving the oculomotor nerve." [MONDO:DesignPattern]
synonym: "disease of oculomotor nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of oculomotor nerve" EXACT []
synonym: "disorder of oculomotor nerve" EXACT [DOID:562, MONDO:patterns/location_top]
synonym: "disorder of oculomotor nerve" RELATED [MONDO:patterns/location_top]
synonym: "oculomotor nerve disease" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oculomotor nerve disorder" EXACT [DOID:562, NCIT:C27598]
xref: DOID:562 {source="MONDO:equivalentTo"}
xref: MESH:D015840 {source="MONDO:equivalentTo"}
xref: NCIT:C27598 {source="MONDO:equivalentTo", source="DOID:562", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:60750009 {source="MONDO:equivalentTo", source="DOID:562", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271353 {source="NCIT:C27598", source="MONDO:equivalentTo", source="DOID:562"}
is_a: MONDO:0003569 {source="DOID:562", source="MESH:D015840/inferred", source="MONDO:Redundant", source="NCIT:C27598", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:562/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/230531004
property_value: exactMatch DOID:562
property_value: exactMatch http://identifiers.org/mesh/D015840
property_value: exactMatch http://identifiers.org/snomedct/60750009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271353
property_value: exactMatch NCIT:C27598

[Term]
id: MONDO:0003547
name: obsolete histiocytic and dendritic cell cancer
property_value: exactMatch NCIT:C43251
is_obsolete: true
replaced_by: MONDO:0006247

[Term]
id: MONDO:0003548
name: adenosquamous breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." [NCIT:C40361]
comment: Editor note: check ONCOTREE mapping
synonym: "adenosquamous breast carcinoma" EXACT [NCIT:C40361]
synonym: "breast adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "metaplastic adenosquamous carcinoma" RELATED [ONCOTREE:MASC]
xref: DOID:5623 {source="MONDO:equivalentTo"}
xref: NCIT:C40361 {source="DOID:5623", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MASC {source="MONDO:equivalentTo"}
xref: UMLS:C1510796 {source="DOID:5623", source="MONDO:equivalentTo", source="NCIT:C40361"}
is_a: MONDO:0006056 ! squamous cell breast carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0003548", source="NCIT:C40361"} ! adenosquamous carcinoma
property_value: exactMatch DOID:5623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510796
property_value: exactMatch NCIT:C40361

[Term]
id: MONDO:0003549
name: adenosquamous bile duct carcinoma
def: "An adenosquamous carcinoma that arises from the bile ducts." [MONDO:patterns/location]
synonym: "adenosquamous bile duct carcinoma" EXACT [] {source="NCIT:C5778"}
synonym: "adenosquamous carcinoma of bile duct" EXACT [] {source="NCIT:C5778"}
synonym: "adenosquamous carcinoma of the bile duct" EXACT [] {source="NCIT:C5778"}
synonym: "bile duct adenosquamous carcinoma" EXACT [DOID:5624, MONDO:patterns/location, NCIT:C5778]
xref: DOID:5624 {source="MONDO:equivalentTo"}
xref: UMLS:C0861854 {source="MONDO:equivalentTo", source="DOID:5624"}
is_a: MONDO:0003500 {source="DOID:5624", source="MONDO:Entailed", source="MONDO:Redundant"} ! squamous cell bile duct carcinoma
is_a: MONDO:0056815 ! liver adenosquamous carcinoma
property_value: exactMatch DOID:5624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861854

[Term]
id: MONDO:0003550
name: esophageal adenosquamous carcinoma
def: "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components." [NCIT:C27421]
synonym: "esophageal adenosquamous cancer" EXACT [NCIT:C27421]
synonym: "esophageal adenosquamous carcinoma" EXACT [NCIT:C27421]
synonym: "esophagus adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5625 {source="MONDO:equivalentTo"}
xref: NCIT:C27421 {source="DOID:5625", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2063886 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27421", source="MONDO:equivalentTo"}
is_a: MONDO:0005580 ! esophageal squamous cell carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0003550", source="NCIT:C27421"} ! adenosquamous carcinoma
property_value: exactMatch DOID:5625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2063886
property_value: exactMatch NCIT:C27421

[Term]
id: MONDO:0003551
name: thymic adenosquamous carcinoma
def: "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components." [NCIT:C6458]
synonym: "adenosquamous carcinoma of the Thymus" EXACT [DOID:5626, NCIT:C6458]
synonym: "adenosquamous carcinoma of Thymus" EXACT [NCIT:C6458]
synonym: "thymic adenosquamous carcinoma" EXACT [NCIT:C6458]
synonym: "Thymus adenosquamous carcinoma" EXACT [NCIT:C6458]
synonym: "thymus adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5626 {source="MONDO:equivalentTo"}
xref: NCIT:C6458 {source="MONDO:equivalentTo", source="DOID:5626"}
xref: UMLS:C1332171 {source="MONDO:equivalentTo", source="NCIT:C6458", source="DOID:5626"}
is_a: MONDO:0003493 {source="DOID:5626", source="MONDO:Entailed", source="MONDO:Redundant"} ! thymus squamous cell carcinoma
is_a: MONDO:0006074 {source="DOID:5626", source="MONDO:Redundant", source="MONDOLEX:0003551", source="NCIT:C6458"} ! adenosquamous carcinoma
property_value: exactMatch DOID:5626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332171
property_value: exactMatch NCIT:C6458

[Term]
id: MONDO:0003552
name: obsolete adenosquamous gallbladder carcinoma
is_obsolete: true
replaced_by: MONDO:0006217

[Term]
id: MONDO:0003553
name: ampulla of vater adenosquamous carcinoma
def: "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27418]
synonym: "ampulla of Vater adenosquamous carcinoma" EXACT [NCIT:C27418]
synonym: "hepatopancreatic ampulla adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5628 {source="MONDO:equivalentTo"}
xref: NCIT:C27418 {source="MONDO:equivalentTo", source="DOID:5628", source="exact-label-match"}
xref: UMLS:C1332245 {source="MONDO:equivalentTo", source="DOID:5628", source="NCIT:C27418"}
is_a: MONDO:0003490 {source="DOID:5628", source="MONDO:Entailed", source="MONDO:Redundant"} ! ampulla of vater squamous cell carcinoma
is_a: MONDO:0006202 ! extrahepatic bile duct adenosquamous carcinoma
property_value: exactMatch DOID:5628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332245
property_value: exactMatch NCIT:C27418

[Term]
id: MONDO:0003554
name: adenosquamous colon carcinoma
def: "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:P378]
synonym: "adenosquamous carcinoma of colon" EXACT [DOID:5629, NCIT:C5491]
synonym: "adenosquamous carcinoma of the colon" EXACT [NCIT:C5491]
synonym: "adenosquamous colon carcinoma" EXACT [NCIT:C5491]
synonym: "colon adenosquamous cancer" EXACT [NCIT:C5491]
synonym: "colon adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5491]
synonym: "colonic adenosquamous carcinoma" EXACT [DOID:5629, NCIT:C5491]
xref: DOID:5629 {source="MONDO:equivalentTo"}
xref: NCIT:C5491 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5629", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333082 {source="MONDO:equivalentTo", source="DOID:5629", source="NCIT:C5491"}
is_a: MONDO:0006157 {source="MONDO:Redundant", source="NCIT:C5491"} ! colorectal adenosquamous carcinoma
is_a: MONDO:0018513 ! squamous cell carcinoma of colon
property_value: exactMatch DOID:5629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333082
property_value: exactMatch NCIT:C5491

[Term]
id: MONDO:0003555
name: Bartholin gland adenosquamous carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells." [NCIT:P378]
synonym: "Bartholin gland adenosquamous carcinoma" EXACT [DOID:5630, NCIT:C40296]
synonym: "Bartholin's gland adenosquamous carcinoma" EXACT [NCIT:C40296]
synonym: "major vestibular gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5630 {source="MONDO:equivalentTo"}
xref: NCIT:C40296 {source="DOID:5630", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1511050 {source="DOID:5630", source="MONDO:equivalentTo", source="NCIT:C40296"}
is_a: MONDO:0004053 {source="DOID:5630", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartholin gland squamous cell carcinoma
is_a: MONDO:0006074 {source="DOID:5630", source="MONDO:Redundant", source="MONDOLEX:0003555", source="NCIT:C40296"} ! adenosquamous carcinoma
property_value: exactMatch DOID:5630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511050
property_value: exactMatch NCIT:C40296

[Term]
id: MONDO:0003556
name: endometrial adenosquamous carcinoma
def: "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." [NCIT:P378]
subset: gard_rare
synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631, NCIT:C6290]
synonym: "adenosquamous carcinoma of the endometrium" RELATED [GARD:0013107]
synonym: "endometrial adenosquamous cancer" RELATED [GARD:0013107]
synonym: "endometrial adenosquamous carcinoma" EXACT [GARD:0013107, NCIT:C114656]
synonym: "endometrium adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5631 {source="MONDO:equivalentTo"}
xref: EFO:1001952 {source="MONDO:equivalentTo"}
xref: GARD:0013107 {source="MONDO:equivalentTo"}
xref: NCIT:C114656 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3896969 {source="MEDGEN:kboom-pr98-c99", source="GARD:0013107", source="MONDO:equivalentTo", source="NCIT:C114656"}
is_a: MONDO:0006074 {source="DOID:5631", source="MONDO:Redundant", source="MONDOLEX:0003556", source="NCIT:C114656"} ! adenosquamous carcinoma
is_a: MONDO:0006198 {source="DOID:5631", source="MONDO:Entailed", source="MONDO:Redundant"} ! endometrial squamous cell carcinoma
property_value: exactMatch DOID:5631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896969
property_value: exactMatch NCIT:C114656

[Term]
id: MONDO:0003557
name: optic nerve sheath meningioma
def: "A meningioma that affects the sheath of the optic nerve." [NCIT:P378]
comment: Editor note: TODO axiomatize
synonym: "meningioma of optic nerve sheath" EXACT [NCIT:C4538]
synonym: "meningioma of the optic nerve sheath" EXACT [NCIT:C4538]
synonym: "optic nerve sheath meningioma" EXACT [DOID:5632, NCIT:C4538]
xref: DOID:5632 {source="MONDO:equivalentTo"}
xref: ICD9:237.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4538 {source="DOID:5632", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:254978007 {source="DOID:5632", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346328 {source="DOID:5632", source="MONDO:equivalentTo", source="NCIT:C4538"}
is_a: MONDO:0002640 {source="DOID:5632", source="MONDO:Entailed", source="MONDO:Redundant"} ! optic nerve neoplasm
is_a: MONDO:0016642 {source="MONDOLEX:0003557", source="NCIT:C4538/inferred"} ! meningioma (disease)
property_value: exactMatch DOID:5632
property_value: exactMatch http://identifiers.org/snomedct/254978007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346328
property_value: exactMatch NCIT:C4538

[Term]
id: MONDO:0003558
name: adenosquamous prostate carcinoma
def: "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones." [NCIT:P378]
synonym: "adenosquamous carcinoma of prostate" EXACT [DOID:5634, NCIT:C5538]
synonym: "adenosquamous carcinoma of the prostate" EXACT [DOID:5634, NCIT:C5538]
synonym: "prostate adenosquamous carcinoma" EXACT [NCIT:C5538]
synonym: "prostate gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5634 {source="MONDO:equivalentTo"}
xref: NCIT:C5538 {source="DesignPattern", source="DOID:5634", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335503 {source="DOID:5634", source="MONDO:equivalentTo", source="NCIT:C5538"}
is_a: MONDO:0000993 ! prostate squamous cell carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0003558", source="NCIT:C5538"} ! adenosquamous carcinoma
property_value: exactMatch DOID:5634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335503
property_value: exactMatch NCIT:C5538

[Term]
id: MONDO:0003559
name: obsolete cervical adenosquamous carcinoma
is_obsolete: true
replaced_by: MONDO:0006134

[Term]
id: MONDO:0003560
name: obsolete adenosquamous pancreas carcinoma
is_obsolete: true
replaced_by: MONDO:0005614

[Term]
id: MONDO:0003561
name: malignant giant cell tumor of soft parts
def: "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." [NCIT:P378]
synonym: "giant cell fibrous histiocytoma" EXACT [NCIT:C8380]
synonym: "giant cell malignant fibrous histiocytoma" EXACT [NCIT:C8380]
synonym: "malignant giant cell neoplasm of soft parts" EXACT [DOID:5638, NCIT:C8380]
synonym: "malignant giant cell tumor of soft parts" EXACT [NCIT:C8380]
synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [DOID:5638]
synonym: "malignant Osteoclastoma" EXACT [NCIT:C8380]
synonym: "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" EXACT [NCIT:C8380]
xref: DOID:5638 {source="MONDO:equivalentTo"}
xref: ICDO:9251/3 {source="NCIT:C8380"}
xref: NCIT:C8380 {source="MONDO:equivalentTo", source="DOID:5638", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334554 {source="MONDO:equivalentTo", source="DOID:5638", source="NCIT:C8380"}
is_a: MONDO:0002142 {source="DOID:5638", source="MONDOLEX:0003561", source="NCIT:C8380"} ! undifferentiated pleomorphic sarcoma
is_a: MONDO:0002402 {source="MONDOLEX:0003561", source="NCIT:C8380"} ! malignant giant cell tumor
property_value: closeMatch http://identifiers.org/snomedct/48460009
property_value: exactMatch DOID:5638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334554
property_value: exactMatch NCIT:C8380

[Term]
id: MONDO:0003562
name: rete testis neoplasm
def: "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." [NCIT:C39955]
synonym: "neoplasm of rete testis" EXACT [MONDO:patterns/neoplasm]
synonym: "rete testis neoplasm" EXACT [NCIT:C39955]
synonym: "rete testis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rete testis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of rete testis" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5639 {source="MONDO:equivalentTo"}
xref: NCIT:C39955 {source="MONDO:equivalentTo", source="DOID:5639", source="exact-label-match"}
xref: UMLS:C1514912 {source="MONDO:equivalentTo", source="NCIT:C39955", source="DOID:5639"}
is_a: MONDO:0021348 ! neoplasm of testis
property_value: exactMatch DOID:5639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514912
property_value: exactMatch NCIT:C39955

[Term]
id: MONDO:0003563
name: diffuse pulmonary fibrosis
def: "Diffuse replacement of the lung tissue by connective tissue." [NCIT:P378]
xref: DOID:5641 {source="MONDO:equivalentTo"}
xref: NCIT:C27216 {source="DOID:5641", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0865849 {source="DOID:5641", source="MONDO:equivalentTo", source="NCIT:C27216"}
is_a: MONDO:0002771 {source="DOID:5641", source="NCIT:C27216"} ! pulmonary fibrosis
property_value: exactMatch DOID:5641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0865849
property_value: exactMatch NCIT:C27216

[Term]
id: MONDO:0003564
name: localized pulmonary fibrosis
def: "Replacement of the lung tissue by connective tissue in a specific area of the lung." [NCIT:P378]
xref: DOID:5642 {source="MONDO:equivalentTo"}
xref: NCIT:C27103 {source="DOID:5642", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:233726000 {source="DOID:5642", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0340127 {source="DOID:5642", source="NCIT:C27103", source="MONDO:equivalentTo"}
is_a: MONDO:0002771 {source="DOID:5642", source="NCIT:C27103", source="linkedlifedata"} ! pulmonary fibrosis
property_value: exactMatch DOID:5642
property_value: exactMatch http://identifiers.org/snomedct/233726000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340127
property_value: exactMatch NCIT:C27103

[Term]
id: MONDO:0003565
name: urethral villous adenoma
def: "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." [NCIT:C39872]
synonym: "urethra villous adenoma" EXACT [MONDO:patterns/location]
synonym: "urethral villous adenoma" EXACT [NCIT:C39872]
xref: DOID:5643 {source="MONDO:equivalentTo"}
xref: NCIT:C39872 {source="DOID:5643", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519828 {source="DOID:5643", source="NCIT:C39872", source="MONDO:equivalentTo"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="MONDOLEX:0003565", source="NCIT:C39872"} ! villous adenoma
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C39872"} ! urethra neoplasm
property_value: exactMatch DOID:5643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519828
property_value: exactMatch NCIT:C39872

[Term]
id: MONDO:0003566
name: obsolete choroid plexus carcinoma
is_obsolete: true
replaced_by: MONDO:0016718

[Term]
id: MONDO:0003567
name: bilateral hypoactive labyrinth
synonym: "hypoactive bilateral labyrinthine dysfunction" EXACT [DOID:565]
synonym: "hypoactive labyrinth, bilateral" EXACT [DOID:565, ICD9CM_2006:386.54]
xref: DOID:565 {source="MONDO:equivalentTo"}
xref: ICD9:386.54 {source="DOID:565"}
xref: SCTID:194375009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:565"}
xref: UMLS:C0155518 {source="MONDO:equivalentTo", source="DOID:565"}
is_a: MONDO:0003571 {source="DOID:565", source="linkedlifedata", source="linkedlifedata/inferred"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/71682006
property_value: exactMatch DOID:565
property_value: exactMatch http://identifiers.org/snomedct/194375009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155518

[Term]
id: MONDO:0003568
name: disorder of optic chiasm
def: "A disease that involves the optic chiasma." [MONDO:patterns/location]
synonym: "chiasma syndrome" EXACT [DOID:5655]
synonym: "chiasmal syndrome" EXACT [DOID:5655, https://en.wikipedia.org/wiki/Chiasmal_syndrome]
synonym: "disease of optic chiasma" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic chiasma" EXACT []
synonym: "disorder of optic chiasm" EXACT [DOID:5655, ICD9CM_2006:377.5]
synonym: "disorder of optic chiasma" EXACT [MONDO:patterns/location_top]
synonym: "disorder of optic chiasma" RELATED [MONDO:patterns/location_top]
synonym: "optic chiasma disease" EXACT []
synonym: "optic chiasma disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:5655 {source="MONDO:equivalentTo"}
xref: ICD10:H47.4 {source="DOID:5655", source="MONDO:equivalentTo"}
xref: ICD9:377.5 {source="DOID:5655"}
xref: ICD9:377.63 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:70476006 {source="DOID:5655", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.98"}
xref: UMLS:C0155307 {source="DOID:5655", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/194061008
property_value: exactMatch DOID:5655
property_value: exactMatch http://identifiers.org/snomedct/70476006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155307

[Term]
id: MONDO:0003569
name: cranial nerve neuropathy
def: "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." [NCIT:C26733]
synonym: "cranial nerve disease" EXACT [NCIT:C26733]
synonym: "cranial nerve disease" RELATED [NCIT:C26733]
synonym: "cranial nerve disorder" EXACT [DOID:5656, NCIT:C26733]
synonym: "cranial nerve disorder" RELATED [NCIT:C26733]
synonym: "cranial neuron projection bundle disease" EXACT [MONDO:patterns/location]
synonym: "cranial neuron projection bundle disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cranial neuropathy" EXACT [NCIT:C26733]
synonym: "disease of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cranial neuron projection bundle" EXACT []
synonym: "disorder of cranial nerve" EXACT [DOID:5656, NCIT:C26733]
synonym: "disorder of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cranial neuron projection bundle" RELATED [MONDO:patterns/location_top]
xref: COHD:441848 {source="MONDO:equivalentTo"}
xref: DOID:5656 {source="MONDO:equivalentTo"}
xref: ICD10:G52.9 {source="DOID:5656"}
xref: ICD9:352.9 {source="DOID:5656", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003389 {source="DOID:5656", source="MONDO:equivalentTo"}
xref: NCIT:C26733 {source="DOID:5656", source="MONDO:equivalentTo"}
xref: SCTID:73013002 {source="DOID:5656", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.75/1.16"}
xref: UMLS:C0010266 {source="DOID:5656", source="MONDO:equivalentTo", source="NCIT:C26733"}
is_a: MONDO:0005042 ! head disease
is_a: MONDO:0005071 {source="DOID:5656/inferred", source="MESH:D003389", source="MONDO:Redundant", source="NCIT:C26733", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/193104009
property_value: closeMatch http://identifiers.org/snomedct/267598004
property_value: closeMatch http://identifiers.org/snomedct/267709002
property_value: closeMatch http://identifiers.org/snomedct/276379008
property_value: exactMatch DOID:5656
property_value: exactMatch http://identifiers.org/mesh/D003389
property_value: exactMatch http://identifiers.org/snomedct/73013002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010266
property_value: exactMatch NCIT:C26733

[Term]
id: MONDO:0003570
name: lipid-rich carcinoma
def: "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." [NCIT:C4152]
synonym: "lipid-rich carcinoma" EXACT [DOID:5658, NCIT:C4152]
synonym: "lipid-rich carcinoma (morphologic abnormality)" EXACT [DOID:5658]
xref: DOID:5658 {source="MONDO:equivalentTo"}
xref: ICDO:8314/3 {source="NCIT:C4152"}
xref: NCIT:C4152 {source="NCIT:C4152", source="DOID:5658", source="MONDO:equivalentTo"}
xref: UMLS:C0334318 {source="NCIT:C4152", source="DOID:5658", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="MONDOLEX:0003570", source="NCIT:C4152"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189655006
property_value: closeMatch http://identifiers.org/snomedct/3839000
property_value: exactMatch DOID:5658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334318
property_value: exactMatch NCIT:C4152

[Term]
id: MONDO:0003571
name: labyrinthine dysfunction
comment: Editor note: TODO merge with inner ear disorder
xref: COHD:78771 {source="MONDO:equivalentTo"}
xref: DOID:566 {source="MONDO:equivalentTo"}
xref: ICD10:H83.2 {source="DOID:566", source="MONDO:equivalentTo"}
xref: ICD10:H83.2X {source="DOID:566"}
xref: ICD10:H83.2X9 {source="DOID:566"}
xref: ICD9:386.5 {source="DOID:566"}
xref: ICD9:386.50 {source="DOID:566", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:386.58 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:5239005 {source="DOID:566", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155514 {source="DOID:566", source="MONDO:equivalentTo"}
is_a: MONDO:0002467 {source="DOID:566", source="ICD10:H83.2/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! inner ear disease
property_value: closeMatch http://identifiers.org/snomedct/194371000
property_value: closeMatch http://identifiers.org/snomedct/194378006
property_value: exactMatch DOID:566
property_value: exactMatch http://identifiers.org/snomedct/5239005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155514

[Term]
id: MONDO:0003572
name: nasopharyngeal type undifferentiated carcinoma
def: "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." [NCIT:C4107]
synonym: "lymphoepithelial carcinoma" EXACT [DOID:5660, NCIT:C4107]
synonym: "lymphoepithelioma" EXACT [NCIT:C4107]
synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C27387, NCIT:C4107]
synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [DOID:5660, NCIT:C4107]
synonym: "Schmincke tumor" EXACT [NCIT:C4107]
synonym: "Schminke tumor" EXACT [NCIT:C4107]
xref: DOID:5660 {source="MONDO:equivalentTo"}
xref: ICDO:8082/3 {source="NCIT:C4107"}
xref: NCIT:C4107 {source="MONDO:equivalentTo", source="DOID:5660"}
xref: UMLS:C0334254 {source="MONDO:equivalentTo", source="NCIT:C4107", source="DOID:5660"}
is_a: MONDO:0005232 {source="NCIT:C4107"} ! large cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/7300000
property_value: exactMatch DOID:5660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334254
property_value: exactMatch NCIT:C4107

[Term]
id: MONDO:0003573
name: pleomorphic carcinoma
def: "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." [NCIT:C4094]
synonym: "pleomorphic carcinoma" EXACT [NCIT:C4094]
synonym: "pleomorphic carcinoma (morphologic abnormality)" EXACT [DOID:5662]
xref: DOID:5662 {source="MONDO:equivalentTo"}
xref: ICDO:8022/3 {source="NCIT:C4094"}
xref: NCIT:C4094 {source="DOID:5662", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334233 {source="DOID:5662", source="MONDO:equivalentTo", source="NCIT:C4094"}
is_a: MONDO:0006406 {source="NCIT:C4094"} ! sarcomatoid carcinoma
property_value: closeMatch http://identifiers.org/snomedct/16741004
property_value: exactMatch DOID:5662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334233
property_value: exactMatch NCIT:C4094

[Term]
id: MONDO:0003574
name: external ear cancer
def: "A malignant neoplasm involving the external ear." [MONDO:DesignPattern]
synonym: "cancer of external ear" EXACT [MONDO:patterns/cancer]
synonym: "external ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant external Ear neoplasm" EXACT [NCIT:C4653]
synonym: "malignant external ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant external Ear tumor" EXACT [NCIT:C4653]
synonym: "malignant neoplasm of external Ear" EXACT [NCIT:C4653]
synonym: "malignant neoplasm of external ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the external Ear" EXACT [NCIT:C4653]
synonym: "malignant neoplasm of the external ear" EXACT [DOID:5665, NCIT:C4653]
synonym: "malignant tumor of external Ear" EXACT [NCIT:C4653]
synonym: "malignant tumor of the external Ear" EXACT [NCIT:C4653]
xref: DOID:5665 {source="MONDO:equivalentTo"}
xref: NCIT:C4653 {source="DOID:5665", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:277156006 {source="DOID:5665", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349576 {source="DOID:5665", source="MONDO:equivalentTo", source="NCIT:C4653"}
is_a: MONDO:0003277 {source="MONDO:Redundant", source="MONDOLEX:0003574", source="NCIT:C4653", source="OWLReasoner:2017", source="linkedlifedata"} ! malignant ear neoplasm
is_a: MONDO:0004532 ! auditory system cancer
is_a: MONDO:0021235 {source="MONDO:Redundant", source="MONDOLEX:0003574", source="NCIT:C4653", source="linkedlifedata"} ! external ear neoplasm
property_value: exactMatch DOID:5665
property_value: exactMatch http://identifiers.org/snomedct/277156006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349576
property_value: exactMatch NCIT:C4653

[Term]
id: MONDO:0003575
name: comedocarcinoma
def: "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." [NCIT:C4188]
comment: Editor note: The DO class may refer to a different entity
synonym: "comedo carcinoma" EXACT [NCIT:C4188]
synonym: "Comedocarcinoma" EXACT [DOID:5670, NCIT:C4188]
xref: DOID:5670 {source="MONDO:equivalentTo"}
xref: ICDO:8501/3 {source="NCIT:C4188"}
xref: NCIT:C4188 {source="MONDO:equivalentTo", source="DOID:5670"}
xref: UMLS:C0334370 {source="NCIT:C4188", source="MONDO:equivalentTo", source="DOID:5670"}
is_a: MONDO:0004993 {source="MONDOLEX:0003575", source="NCIT:C4188"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189709000
property_value: closeMatch http://identifiers.org/snomedct/36425007
property_value: exactMatch DOID:5670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334370
property_value: exactMatch NCIT:C4188

[Term]
id: MONDO:0003577
name: obsolete cribriform carcinoma
is_obsolete: true
replaced_by: MONDO:0006176

[Term]
id: MONDO:0003578
name: extragonadal nonseminomatous germ cell tumor
def: "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:P378]
synonym: "cancer of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "cancer of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "extragonadal non-seminomatous germ cell cancer" EXACT [NCIT:C8885]
synonym: "extragonadal primary Nonseminoma" EXACT [NCIT:C8885]
synonym: "malignant extragonadal non-seminomatous germ cell neoplasm" EXACT [NCIT:C8885]
synonym: "malignant extragonadal non-seminomatous germ cell tumor" EXACT [NCIT:C8885]
synonym: "malignant extragonadal Nonseminoma" EXACT [NCIT:C8885]
synonym: "malignant neoplasm of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant neoplasm of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant tumor of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant tumor of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "primary malignant extragonadal Nonseminoma" EXACT [DOID:5677, NCIT:C8885]
xref: DOID:5677 {source="MONDO:equivalentTo"}
xref: NCIT:C8885 {source="DOID:5677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.34"}
xref: UMLS:C1334582 {source="DOID:5677", source="MONDO:equivalentTo"}
is_a: MONDO:0003113 {source="DOID:5677", source="MONDO:Redundant", source="NCIT:C8885"} ! extragonadal germ cell cancer
is_a: MONDO:0020539 ! extragonadal non-dysgerminomatous germ cell tumor
intersection_of: MONDO:0003113 {source="NCIT:C8885"} ! extragonadal germ cell cancer
intersection_of: MONDO:0021656 {source="NCIT:C8885"} ! nongerminomatous germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0855164
property_value: exactMatch DOID:5677
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334582
property_value: exactMatch NCIT:C8885

[Term]
id: MONDO:0003579
name: retinal nerve fibre layer disorder
def: "A disease that involves the nerve fiber layer of retina." [MONDO:patterns/location]
synonym: "disease of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of nerve fiber layer of retina" EXACT []
synonym: "disorder of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of nerve fiber layer of retina" RELATED [MONDO:patterns/location_top]
synonym: "nerve fiber layer of retina disease" EXACT [MONDO:design_pattern]
synonym: "nerve fiber layer of retina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nerve fibre bundle defect" RELATED [DOID:5678]
synonym: "retinal nerve fiber bundle defects" EXACT [DOID:5678, ICD9CM_2006:362.85]
synonym: "retinal nerve fiber bundle deficiency" EXACT [DOID:5678]
xref: DOID:5678 {source="MONDO:equivalentTo"}
xref: ICD9:362.85 {source="DOID:5678"}
xref: SCTID:193428001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3665426 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0001834 {source="DOID:5678"} ! visual pathway disease
is_a: MONDO:0005283 {source="DOID:5678", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/87194000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474334
property_value: exactMatch DOID:5678
property_value: exactMatch http://identifiers.org/snomedct/193428001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665426

[Term]
id: MONDO:0003580
name: obsolete embryonal testis carcinoma
is_obsolete: true
replaced_by: MONDO:0006446

[Term]
id: MONDO:0003581
name: ovarian embryonal carcinoma
def: "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." [NCIT:C8108]
synonym: "embryonal carcinoma" RELATED [ONCOTREE:OEC]
synonym: "embryonal carcinoma of ovary" EXACT [NCIT:C8108]
synonym: "embryonal carcinoma of the ovary" EXACT [DOID:5681, NCIT:C8108]
synonym: "ovarian embryonal carcinoma" EXACT [MONDO:0006334, NCIT:C8108]
synonym: "ovary embryonal carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5681 {source="MONDO:equivalentTo"}
xref: EFO:1000415 {source="MONDO:equivalentTo"}
xref: NCIT:C8108 {source="MONDO:equivalentTo", source="DOID:5681", source="exact-label-match", source="EFO:1000415"}
xref: ONCOTREE:OEC {source="MONDO:equivalentTo"}
xref: SCTID:254872007 {source="MONDO:equivalentTo", source="DOID:5681", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346183 {source="MONDO:equivalentTo", source="NCIT:C8108", source="DOID:5681"}
is_a: MONDO:0005440 {source="DOID:5681", source="EFO:1000415", source="MONDO:Redundant", source="NCIT:C8108"} ! embryonal carcinoma
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8108"} ! malignant non-dysgerminomatous germ cell tumor of ovary
property_value: exactMatch DOID:5681
property_value: exactMatch http://identifiers.org/snomedct/254872007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346183
property_value: exactMatch NCIT:C8108

[Term]
id: MONDO:0003582
name: hereditary breast ovarian cancer syndrome
def: "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." [NCIT:C8493]
comment: Editor note: https://github.com/monarch-initiative/mondo/issues/84
subset: clingen
subset: ordo_disease {source="Orphanet:145"}
subset: predisposition
synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [DOID:5683]
synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)" EXACT [DOID:5683]
synonym: "breast-ovarian cancer, familial, susceptibility to" EXACT [MONDO:0000163]
synonym: "familial breast and ovarian cancer syndrome" EXACT [NCIT:C8493]
synonym: "familial breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493]
synonym: "HBOC syndrome" RELATED [MESH:D061325]
synonym: "HBOC syndromes" RELATED [MESH:D061325]
synonym: "hereditary breast and ovarian cancer" EXACT [NCIT:C8493]
synonym: "hereditary breast and ovarian cancer syndrome" EXACT [MONDO:0015442, NCIT:C8493]
synonym: "hereditary breast ovarian cancer" RELATED [DOID:5683]
synonym: "hereditary breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493]
synonym: "syndrome, HBOC" RELATED [MESH:D061325]
synonym: "syndromes, HBOC" RELATED [MESH:D061325]
xref: DC:0000638 {source="MONDO:equivalentTo"}
xref: DOID:5683 {source="MONDO:equivalentTo"}
xref: GARD:0012351 {source="MONDO:equivalentTo"}
xref: GARD:0012352 {source="MONDO:equivalentTo"}
xref: ICD10:C50 {source="ORDO:145/attributed", source="MONDO:relatedTo", source="ORDO:145/nd", source="Orphanet:145"}
xref: ICD10:C56 {source="ORDO:145/attributed", source="ORDO:145/nd", source="Orphanet:145"}
xref: MESH:D061325 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5683"}
xref: NCIT:C8493 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5683"}
xref: OMIMPS:604370 {source="MONDO:equivalentTo", source="DC:0000638"}
xref: Orphanet:145 {source="MONDO:equivalentTo"}
xref: SCTID:718220008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0677776 {source="MONDO:equivalentTo", source="ORDO:145/e", source="DOID:5683", source="NCIT:C8493", source="Orphanet:145"}
is_a: MONDO:0000426 {source="DOID:5683", source="MONDO:Redundant", source="NCIT:C8493-def", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D061325", source="NCIT:C8493", source="Orphanet:145", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016248 {source="Orphanet:145"} ! familial ovarian cancer
is_a: MONDO:0016419 {source="linkedlifedata"} ! hereditary breast carcinoma
is_a: MONDO:0018364 ! malignant epithelial tumor of ovary
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: disease_has_feature MONDO:0004379 {source="NCIT:C8493"} ! female breast carcinoma
relationship: disease_has_feature MONDO:0005140 {source="NCIT:C8493"} ! ovarian carcinoma
relationship: excluded_subClassOf MONDO:0015870 {source="Orphanet:145"} ! obsolete rare malignant breast tumor
property_value: exactMatch DOID:5683
property_value: exactMatch http://identifiers.org/mesh/D061325
property_value: exactMatch http://identifiers.org/snomedct/718220008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677776
property_value: exactMatch NCIT:C8493
property_value: exactMatch Orphanet:145

[Term]
id: MONDO:0003583
name: obsolete atypical lipomatous tumor
is_obsolete: true
replaced_by: MONDO:0006097

[Term]
id: MONDO:0003584
name: visual cortex disease
def: "A disease involving the visual cortex." [MONDO:DesignPattern]
synonym: "disease of visual cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of visual cortex" EXACT []
synonym: "disorder of visual cortex" EXACT [MONDO:patterns/location_top]
synonym: "disorder of visual cortex" RELATED [MONDO:patterns/location_top]
synonym: "visual cortex disease" EXACT [MONDO:patterns/location]
synonym: "visual cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "visual cortex disorder" RELATED []
synonym: "visual cortex dysfunction" EXACT [DOID:5691]
xref: DOID:5691 {source="MONDO:equivalentTo"}
xref: ICD10:H47.6 {source="MONDO:equivalentTo", source="DOID:5691"}
xref: ICD9:377.7 {source="DOID:5691"}
xref: SCTID:128329001 {source="MONDO:equivalentTo", source="DOID:5691"}
xref: UMLS:C0234398 {source="MONDO:equivalentTo", source="DOID:5691"}
is_a: MONDO:0001834 {source="DOID:5691", source="linkedlifedata"} ! visual pathway disease
is_a: MONDO:0044996 ! cerebral cortex disease
property_value: closeMatch http://identifiers.org/snomedct/194071005
property_value: closeMatch http://identifiers.org/snomedct/86492004
property_value: exactMatch DOID:5691
property_value: exactMatch http://identifiers.org/snomedct/128329001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234398

[Term]
id: MONDO:0003585
name: adult liposarcoma
def: "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:C7811]
synonym: "adult liposarcoma" EXACT [NCIT:C7811]
synonym: "liposarcoma" EXACT [NCIT:C7811]
synonym: "liposarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5693 {source="MONDO:equivalentTo"}
xref: NCIT:C7811 {source="MONDO:equivalentTo", source="DOID:5693"}
xref: UMLS:C0278608 {source="MONDO:equivalentTo", source="NCIT:C7811", source="DOID:5693"}
is_a: MONDO:0005060 {source="DOID:5693", source="MONDO:Redundant", source="NCIT:C7811"} ! liposarcoma
property_value: exactMatch DOID:5693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278608
property_value: exactMatch NCIT:C7811

[Term]
id: MONDO:0003586
name: esophagus liposarcoma
def: "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation." [NCIT:P378]
synonym: "esophageal liposarcoma" EXACT [NCIT:C5705]
synonym: "esophagus liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5705]
synonym: "liposarcoma of esophagus" EXACT [DOID:5694, NCIT:C5705]
synonym: "liposarcoma of the esophagus" EXACT [NCIT:C5705]
xref: DOID:5694 {source="MONDO:equivalentTo"}
xref: NCIT:C5705 {source="MONDO:equivalentTo", source="DOID:5694", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333456 {source="MONDO:equivalentTo", source="DOID:5694", source="NCIT:C5705"}
is_a: MONDO:0001204 {source="DOID:5694", source="MONDO:Redundant", source="NCIT:C5705"} ! esophagus sarcoma
is_a: MONDO:0005060 {source="DOID:5694", source="MONDO:Redundant", source="NCIT:C5705"} ! liposarcoma
property_value: exactMatch DOID:5694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333456
property_value: exactMatch NCIT:C5705

[Term]
id: MONDO:0003587
name: pediatric liposarcoma
def: "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:P378]
synonym: "childhood liposarcoma" EXACT [NCIT:C8091]
synonym: "liposarcoma" EXACT [NCIT:C8091]
synonym: "pediatric liposarcoma" EXACT [NCIT:C8091]
xref: DOID:5695 {source="MONDO:equivalentTo"}
xref: NCIT:C8091 {source="DOID:5695", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0279984 {source="DOID:5695", source="MONDO:equivalentTo", source="NCIT:C8091"}
is_a: MONDO:0005060 {source="DOID:5695", source="NCIT:C8091"} ! liposarcoma
is_a: MONDO:0006517 {source="NCIT:C8091"} ! childhood malignant neoplasm
property_value: exactMatch DOID:5695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279984
property_value: exactMatch NCIT:C8091

[Term]
id: MONDO:0003588
name: larynx liposarcoma
def: "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement." [NCIT:P378]
synonym: "laryngeal liposarcoma" EXACT [NCIT:C6021]
synonym: "larynx liposarcoma" EXACT [MONDO:patterns/location]
synonym: "lip larynx sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma of larynx" EXACT [DOID:5696, NCIT:C6021]
synonym: "liposarcoma of the larynx" EXACT [NCIT:C6021]
xref: DOID:5696 {source="MONDO:equivalentTo"}
xref: NCIT:C6021 {source="DOID:5696", source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C1334372 {source="DOID:5696", source="NCIT:C6021", source="MONDO:equivalentTo"}
is_a: MONDO:0002448 {source="DOID:5696", source="MONDO:Redundant", source="NCIT:C6021"} ! laryngeal sarcoma
is_a: MONDO:0005060 {source="DOID:5696", source="MONDO:Redundant", source="NCIT:C6021"} ! liposarcoma
property_value: exactMatch DOID:5696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334372
property_value: exactMatch NCIT:C6021

[Term]
id: MONDO:0003589
name: liposarcoma of the ovary
def: "A malignant adipose tissue neoplasm of the ovary." [NCIT:P378]
synonym: "liposarcoma of ovary" EXACT [DOID:5697, NCIT:C6419]
synonym: "ovarian liposarcoma" EXACT [NCIT:C6419]
synonym: "ovary liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5697 {source="MONDO:equivalentTo"}
xref: NCIT:C6419 {source="DesignPattern", source="DOID:5697", source="MONDO:equivalentTo"}
xref: UMLS:C1335165 {source="DOID:5697", source="MONDO:equivalentTo", source="NCIT:C6419"}
is_a: MONDO:0002225 {source="DOID:5697", source="MONDO:Redundant", source="NCIT:C6419"} ! ovarian sarcoma
is_a: MONDO:0005060 {source="DOID:5697", source="MONDO:Redundant", source="NCIT:C6419"} ! liposarcoma
property_value: exactMatch DOID:5697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335165
property_value: exactMatch NCIT:C6419

[Term]
id: MONDO:0003590
name: fibroblastic liposarcoma
def: "A liposarcoma characterized by the presence of a fibroblastic component." [NCIT:C6509]
synonym: "fibroblastic liposarcoma" EXACT [DOID:5698, NCIT:C6509]
synonym: "fibroblastic liposarcoma (morphologic abnormality)" EXACT [DOID:5698]
xref: DOID:5698 {source="MONDO:equivalentTo"}
xref: ICDO:8857/3 {source="NCIT:C6509"}
xref: NCIT:C6509 {source="DOID:5698", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1266130 {source="NCIT:C6509", source="DOID:5698", source="MONDO:equivalentTo"}
is_a: MONDO:0005060 {source="DOID:5698"} ! liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/128883006
property_value: exactMatch DOID:5698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266130
property_value: exactMatch NCIT:C6509

[Term]
id: MONDO:0003591
name: kidney liposarcoma
def: "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." [NCIT:C6185]
synonym: "kidney liposarcoma" EXACT [MONDO:patterns/location, NCIT:C6185]
synonym: "liposarcoma of kidney" EXACT [DOID:5699, NCIT:C6185]
synonym: "liposarcoma of the kidney" EXACT [NCIT:C6185]
synonym: "renal liposarcoma" EXACT [NCIT:C6185]
xref: DOID:5699 {source="MONDO:equivalentTo"}
xref: NCIT:C6185 {source="DOID:5699", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335745 {source="NCIT:C6185", source="DOID:5699", source="MONDO:equivalentTo"}
is_a: MONDO:0002930 {source="DOID:5699", source="MONDO:Redundant", source="NCIT:C6185"} ! kidney sarcoma
is_a: MONDO:0005060 {source="DOID:5699", source="MONDO:Redundant", source="NCIT:C6185"} ! liposarcoma
property_value: exactMatch DOID:5699
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335745
property_value: exactMatch NCIT:C6185

[Term]
id: MONDO:0003592
name: gastric liposarcoma
def: "A malignant adipose tissue neoplasm of the stomach." [NCIT:C5488]
synonym: "gastric liposarcoma" EXACT [NCIT:C5488]
synonym: "liposarcoma of stomach" EXACT [NCIT:C5488]
synonym: "liposarcoma of the stomach" EXACT [DOID:5700, NCIT:C5488]
synonym: "stomach liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5488]
xref: DOID:5700 {source="MONDO:equivalentTo"}
xref: NCIT:C5488 {source="DesignPattern", source="DOID:5700", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333778 {source="DOID:5700", source="MONDO:equivalentTo", source="NCIT:C5488"}
is_a: MONDO:0001056 {source="DOID:5700", source="MONDO:Redundant", source="NCIT:C5488/inferred"} ! gastric cancer
is_a: MONDO:0005060 {source="MONDO:Redundant", source="NCIT:C5488"} ! liposarcoma
property_value: exactMatch DOID:5700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333778
property_value: exactMatch NCIT:C5488

[Term]
id: MONDO:0003593
name: breast liposarcoma
def: "A malignant adipose tissue neoplasm of the breast." [NCIT:C5187]
synonym: "breast liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5187]
synonym: "liposarcoma of breast" EXACT [NCIT:C5187]
synonym: "liposarcoma of the breast" EXACT [DOID:5701, NCIT:C5187]
xref: DOID:5701 {source="MONDO:equivalentTo"}
xref: NCIT:C5187 {source="MONDO:equivalentTo", source="DOID:5701", source="exact-label-match"}
xref: UMLS:C1332632 {source="NCIT:C5187", source="MONDO:equivalentTo", source="DOID:5701"}
is_a: MONDO:0002490 {source="DOID:5701", source="MONDO:Redundant", source="NCIT:C5187"} ! breast sarcoma
is_a: MONDO:0005060 {source="DOID:5701", source="MONDO:Redundant", source="NCIT:C5187"} ! liposarcoma
property_value: exactMatch DOID:5701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332632
property_value: exactMatch NCIT:C5187

[Term]
id: MONDO:0003594
name: mixed liposarcoma
def: "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." [NCIT:C4253]
synonym: "mixed liposarcoma" EXACT [NCIT:C4253]
synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [DOID:5703]
xref: DOID:5703 {source="MONDO:equivalentTo"}
xref: ICDO:8855/3 {source="NCIT:C4253"}
xref: NCIT:C4253 {source="MONDO:equivalentTo", source="DOID:5703", source="exact-label-match"}
xref: UMLS:C0334472 {source="NCIT:C4253", source="MONDO:equivalentTo", source="DOID:5703"}
is_a: MONDO:0005060 {source="DOID:5703", source="NCIT:C4253"} ! liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/11073003
property_value: exactMatch DOID:5703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334472
property_value: exactMatch NCIT:C4253

[Term]
id: MONDO:0003595
name: sclerosing liposarcoma
def: "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma." [NCIT:P378]
xref: DOID:5704 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6507 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5704"}
xref: SCTID:404068003 {source="MONDO:equivalentTo", source="DOID:5704", source="MONDO:kboom-pr-1.00/0.91/29.31"}
xref: UMLS:C0334469 {source="MONDO:equivalentTo", source="DOID:5704", source="NCIT:C6507"}
is_a: MONDO:0005103 {source="NCIT:C6507"} ! well-differentiated liposarcoma
relationship: excluded_subClassOf MONDO:0006097 {source="DOID:5704"} ! atypical lipomatous tumor
property_value: closeMatch http://identifiers.org/snomedct/28655007
property_value: exactMatch DOID:5704
property_value: exactMatch http://identifiers.org/snomedct/404068003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334469
property_value: exactMatch NCIT:C6507

[Term]
id: MONDO:0003596
name: spindle cell liposarcoma
def: "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." [NCIT:C27489]
synonym: "spindle cell liposarcoma" EXACT [NCIT:C27489]
xref: DOID:5705 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27489 {source="MONDO:equivalentTo", source="DOID:5705", source="exact-label-match"}
xref: SCTID:404073009 {source="MONDO:equivalentTo", source="DOID:5705", source="MONDO:kboom-pr-1.00/0.91/29.31"}
xref: UMLS:C1275275 {source="MONDO:equivalentTo", source="NCIT:C27489", source="DOID:5705"}
is_a: MONDO:0002927 ! spindle cell sarcoma
is_a: MONDO:0005103 {source="NCIT:C27489"} ! well-differentiated liposarcoma
relationship: excluded_subClassOf MONDO:0006097 {source="DOID:5705"} ! atypical lipomatous tumor
property_value: exactMatch DOID:5705
property_value: exactMatch http://identifiers.org/snomedct/404073009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275275
property_value: exactMatch NCIT:C27489

[Term]
id: MONDO:0003598
name: median nerve neuropathy
def: "Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome)." [MESH:D020423]
synonym: "median nerve palsy" RELATED []
synonym: "median nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "median neuropathy" EXACT []
synonym: "peripheral neuropathy of median nerve" EXACT [MONDO:design_pattern]
xref: DOID:571 {source="MONDO:equivalentTo"}
xref: ICD10:G56.1 {source="DOID:571"}
xref: ICD10:G56.10 {source="DOID:571"}
xref: ICD9:354.1 {source="MONDO:relatedTo", source="i2s", source="DOID:571"}
xref: MESH:D020423 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:397828008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0006683 ! brachial plexus neuropathy
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0003607 {source="DOID:571"} ! neuritis of upper limb
property_value: closeMatch http://identifiers.org/snomedct/193127001
property_value: closeMatch http://identifiers.org/snomedct/194512000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154742
property_value: exactMatch DOID:571
property_value: exactMatch http://identifiers.org/mesh/D020423
property_value: exactMatch http://identifiers.org/snomedct/397828008

[Term]
id: MONDO:0003599
name: vulvar liposarcoma
def: "A rare malignant adipose tissue neoplasm of the vulva." [NCIT:C40321]
synonym: "liposarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva liposarcoma" EXACT [MONDO:patterns/location]
synonym: "vulvar liposarcoma" EXACT [NCIT:C40321]
xref: DOID:5711 {source="MONDO:equivalentTo"}
xref: NCIT:C40321 {source="DOID:5711", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2184082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40321"}
is_a: MONDO:0005060 {source="DOID:5711", source="MONDO:Redundant", source="NCIT:C40321"} ! liposarcoma
is_a: MONDO:0005214 {source="DOID:5711", source="MONDO:Redundant", source="NCIT:C40321"} ! vulva sarcoma
property_value: exactMatch DOID:5711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2184082
property_value: exactMatch NCIT:C40321

[Term]
id: MONDO:0003600
name: cutaneous liposarcoma
def: "A malignant adipose tissue neoplasm of the skin." [NCIT:C5615]
synonym: "cutaneous liposarcoma" EXACT [NCIT:C5615]
synonym: "liposarcoma of skin" EXACT [NCIT:C5615]
synonym: "liposarcoma of the skin" EXACT [DOID:5712, NCIT:C5615]
synonym: "liposarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin liposarcoma" EXACT [NCIT:C5615]
synonym: "zone of skin liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5712 {source="MONDO:equivalentTo"}
xref: NCIT:C5615 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5712", source="exact-label-match"}
xref: UMLS:C1333175 {source="MONDO:equivalentTo", source="DOID:5712", source="NCIT:C5615"}
is_a: MONDO:0005060 {source="DOID:5712", source="MONDO:Redundant", source="NCIT:C5615"} ! liposarcoma
is_a: MONDO:0006414 {source="DOID:5712", source="MONDO:Redundant", source="NCIT:C5615"} ! skin sarcoma
property_value: exactMatch DOID:5712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333175
property_value: exactMatch NCIT:C5615

[Term]
id: MONDO:0003601
name: mediastinum liposarcoma
def: "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." [NCIT:P378]
synonym: "lip mediastinum sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma of mediastinum" EXACT [DOID:5713, NCIT:C6614]
synonym: "liposarcoma of the mediastinum" EXACT [NCIT:C6614]
synonym: "mediastinal liposarcoma" EXACT [NCIT:C6614]
synonym: "mediastinum liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5713 {source="MONDO:equivalentTo"}
xref: NCIT:C6614 {source="DesignPattern", source="DOID:5713", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334663 {source="DOID:5713", source="MONDO:equivalentTo", source="NCIT:C6614"}
is_a: MONDO:0002852 {source="DOID:5713", source="MONDO:Redundant", source="NCIT:C6614"} ! mediastinum sarcoma
is_a: MONDO:0005060 {source="DOID:5713", source="MONDO:Redundant", source="NCIT:C6614"} ! liposarcoma
property_value: exactMatch DOID:5713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334663
property_value: exactMatch NCIT:C6614

[Term]
id: MONDO:0003602
name: intracranial liposarcoma
def: "A malignant adipose tissue neoplasm of the intracranial region." [NCIT:P378]
xref: DOID:5714 {source="MONDO:equivalentTo"}
xref: NCIT:C6973 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:5714"}
xref: UMLS:C1334242 {source="MONDO:equivalentTo", source="NCIT:C6973", source="DOID:5714"}
is_a: MONDO:0005060 {source="DOID:5714", source="NCIT:C6973"} ! liposarcoma
property_value: exactMatch DOID:5714
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334242
property_value: exactMatch NCIT:C6973

[Term]
id: MONDO:0003603
name: non-functioning pituitary gland neoplasm
def: "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." [NCIT:C4009]
synonym: "non-functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "non-functioning neoplasm of pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of the pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of the pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary gland neoplasm" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary gland tumor" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary neoplasm" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary tumor" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of the pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of the pituitary gland" EXACT [NCIT:C4009]
synonym: "nonfunctional pituitary gland neoplasm" EXACT [NCIT:C4009]
synonym: "Nonfunctioning pituitary tumor" EXACT [NCIT:C4009]
synonym: "pituitary gland non-functioning endocrine neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4009 {source="MONDO:equivalentTo", source="DOID:5715", source="MONDO:kboom-pr-0.92/0.76/1.02"}
xref: SCTID:448563005 {source="MONDO:equivalentTo"}
is_a: MONDO:0017611 ! pituitary tumor
is_a: MONDO:0021119 {source="MONDO:Redundant", source="MONDOLEX:0003603", source="NCIT:C4009"} ! non-functioning endocrine neoplasm
disjoint_from: MONDO:0003604 ! functioning pituitary gland neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3163649
property_value: exactMatch http://identifiers.org/snomedct/448563005
property_value: exactMatch NCIT:C4009

[Term]
id: MONDO:0003604
name: functioning pituitary gland neoplasm
def: "A hormone producing pituitary gland tumor, associated with a hormonal syndrome." [NCIT:C7047]
synonym: "functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "functioning pituitary gland neoplasm" EXACT [NCIT:C7047]
synonym: "functioning pituitary neoplasm" EXACT []
synonym: "functioning pituitary tumor" RELATED []
synonym: "growth hormone producing pituitary tumor" EXACT EXCLUDE [DOID:5716]
synonym: "hormone producing pituitary cancer" RELATED [DOID:5716]
synonym: "hormone producing pituitary neoplasm" EXACT [NCIT:C7047]
synonym: "pituitary gland functioning endocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "pituitary neoplasms, hormone producing" EXACT [NCIT:C7047]
synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716, NCIT:C7047]
synonym: "secretory pituitary tumor" RELATED []
synonym: "somatotropinoma" EXACT [DOID:5716, NCIT:C7911]
xref: DOID:5716 {source="MONDO:equivalentTo"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7047 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.32", source="DOID:5716"}
xref: SCTID:448148000 {source="MONDO:equivalentTo"}
xref: UMLS:C0851693 {source="MONDO:equivalentTo", source="DOID:5716"}
xref: UMLS:C3163678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017611 ! pituitary tumor
is_a: MONDO:0021120 {source="MONDO:Redundant", source="MONDOLEX:0003604", source="NCIT:C7047"} ! functioning endocrine neoplasm
relationship: excluded_subClassOf MONDO:0002109 {source="linkedlifedata"} ! pituitary cancer
property_value: exactMatch DOID:5716
property_value: exactMatch http://identifiers.org/snomedct/448148000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3163678
property_value: exactMatch NCIT:C7047

[Term]
id: MONDO:0003605
name: obsolete adrenal neuroblastoma
def: "A neuroblastoma arising from the adrenal gland." [NCIT:C4827]
is_obsolete: true
replaced_by: MONDO:0006076

[Term]
id: MONDO:0003606
name: adrenal medulla cancer
def: "A malignant neoplasm involving the adrenal medulla" [MONDO:DesignPattern]
subset: gard_rare {source="GARD:0005755"}
synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location]
synonym: "adrenal medulla neoplasm" BROAD [CSP2005:2009-6219, DOID:5719]
synonym: "adrenal medulla tumor" BROAD [DOID:5719]
synonym: "cancer of adrenal medulla" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal medulla neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4396]
synonym: "malignant adrenal medulla tumor" EXACT [NCIT:C4396]
synonym: "malignant neoplasm of adrenal medulla" EXACT [DOID:5719, MONDO:patterns/cancer, MTHICD9_2006:194.0, NCIT:C4396]
synonym: "malignant neoplasm of the adrenal medulla" EXACT [NCIT:C4396]
synonym: "malignant tumor of adrenal medulla" EXACT [NCIT:C4396]
synonym: "malignant tumor of the adrenal medulla" EXACT [DOID:5719, NCIT:C4396]
xref: DOID:5719 {source="MONDO:equivalentTo"}
xref: GARD:0005755 {source="MONDO:equivalentTo"}
xref: ICD10:C74.1 {source="DOID:5719"}
xref: NCIT:C4396 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:5719"}
xref: SCTID:371965009 {source="MONDO:kboom-pr-0.90/0.76/0.50", source="MONDO:equivalentTo", source="DOID:5719"}
xref: UMLS:C0344456 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4396", source="MONDO:equivalentTo", source="DOID:5719"}
is_a: MONDO:0002817 {source="DOID:5719", source="MONDO:Redundant", source="NCIT:C4396", source="linkedlifedata", source="linkedlifedata/inferred"} ! adrenal gland cancer
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4396"} ! adrenal medulla neoplasm
property_value: closeMatch http://identifiers.org/snomedct/127023007
property_value: closeMatch http://identifiers.org/snomedct/363480001
property_value: closeMatch http://identifiers.org/snomedct/93666006
property_value: exactMatch DOID:5719
property_value: exactMatch http://identifiers.org/snomedct/371965009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344456
property_value: exactMatch NCIT:C4396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer xsd:anyURI {source="GARD:0005755"}

[Term]
id: MONDO:0003607
name: neuritis of upper limb
def: "A neuritis that involves the forelimb." [MONDO:patterns/location]
synonym: "forelimb neuritis" EXACT [MONDO:patterns/location]
synonym: "neuritis of forelimb" EXACT []
xref: DOID:572 {source="MONDO:equivalentTo"}
xref: ICD9:354 {source="DOID:572"}
is_a: MONDO:0002122 ! neuritis
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0002121 {source="DOID:572"} ! mononeuritis simplex
property_value: closeMatch http://identifiers.org/snomedct/155072002
property_value: closeMatch http://identifiers.org/snomedct/193125009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154741
property_value: exactMatch DOID:572

[Term]
id: MONDO:0003608
name: optic atrophy
def: "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." [NCIT:P378]
synonym: "atrophy of optic disc" EXACT [DOID:5723]
xref: COHD:372914 {source="MONDO:equivalentTo"}
xref: DOID:5723 {source="MONDO:equivalentTo"}
xref: ICD10:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: ICD10:H47.20 {source="DOID:5723"}
xref: ICD9:377.1 {source="DOID:5723"}
xref: ICD9:377.10 {source="MONDO:equivalentTo", source="DOID:5723", source="i2s"}
xref: MESH:D009896 {source="MONDO:equivalentTo", source="DOID:5723", source="MONDO:ontobio"}
xref: NCIT:C34863 {source="MONDO:equivalentTo", source="DOID:5723", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:165500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:76976005 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: UMLS:C0029124 {source="MONDO:equivalentTo", source="DOID:5723", source="NCIT:C34863"}
xref: UMLS:C1744705 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002135 {source="DOID:5723", source="MESH:D009896", source="linkedlifedata"} ! optic nerve disease
is_a: MONDO:0005559 ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/155188004
property_value: closeMatch http://identifiers.org/snomedct/194042009
property_value: closeMatch http://identifiers.org/snomedct/194046007
property_value: closeMatch http://identifiers.org/snomedct/267742001
property_value: exactMatch DOID:5723
property_value: exactMatch http://identifiers.org/mesh/D009896
property_value: exactMatch http://identifiers.org/snomedct/76976005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744705
property_value: exactMatch NCIT:C34863

[Term]
id: MONDO:0003609
name: seminal vesicle cystadenoma
def: "A rare benign cystadenoma that arises from the seminal vesicle." [NCIT:C39907]
synonym: "seminal vesicle cystadenoma" EXACT [MONDO:patterns/location, NCIT:C39907]
xref: DOID:5724 {source="MONDO:equivalentTo"}
xref: NCIT:C39907 {source="DOID:5724", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519234 {source="NCIT:C39907", source="DOID:5724", source="MONDO:equivalentTo"}
is_a: MONDO:0002369 {source="DOID:5724", source="MONDO:Redundant", source="MONDOLEX:0003609", source="NCIT:C39907"} ! cystadenoma
is_a: MONDO:0002790 {source="DOID:5724", source="MONDO:Redundant", source="NCIT:C39907"} ! seminal vesicle tumor
property_value: exactMatch DOID:5724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519234
property_value: exactMatch NCIT:C39907

[Term]
id: MONDO:0003610
name: rete ovarii cystadenoma
def: "An exceptionally rare cystadenoma that arises from the rete ovarii." [NCIT:P378]
synonym: "rete ovarii cystadenoma" EXACT [MONDO:patterns/location]
xref: DOID:5725 {source="MONDO:equivalentTo"}
xref: NCIT:C40019 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5725"}
xref: UMLS:C1514907 {source="NCIT:C40019", source="MONDO:equivalentTo", source="DOID:5725"}
is_a: MONDO:0004005 {source="DOID:5725", source="MONDO:Redundant", source="NCIT:C40019"} ! rete ovarii adenoma
is_a: MONDO:0005183 ! ovarian cystadenoma
property_value: exactMatch DOID:5725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514907
property_value: exactMatch NCIT:C40019

[Term]
id: MONDO:0003611
name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
def: "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." [NCIT:C40142]
synonym: "uterine ligament papillary cystadenoma" RELATED [DOID:5726]
synonym: "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" EXACT [NCIT:C40142]
xref: DOID:5726 {source="MONDO:equivalentTo"}
xref: NCIT:C40142 {source="MONDO:equivalentTo", source="DOID:5726"}
xref: UMLS:C3642324 {source="MONDO:equivalentTo", source="DOID:5726", source="NCIT:C40142"}
is_a: MONDO:0021091 {source="MONDO:Redundant", source="MONDOLEX:0003611", source="NCIT:C40142"} ! papillary cystadenoma
is_a: MONDO:0021629 {source="MONDO:Redundant", source="NCIT:C40142/inferred"} ! uterine ligament neoplasm
is_a: MONDO:0024882 ! secondary neoplasm
relationship: disease_arises_from_feature MONDO:0008667 ! von Hippel-Lindau disease
property_value: exactMatch DOID:5726
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642324
property_value: exactMatch NCIT:C40142

[Term]
id: MONDO:0003612
name: uterine ligament cancer
def: "A primary or metastatic malignant neoplasm that affects the uterine ligament." [NCIT:C126498]
synonym: "cancer of uterine ligament" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of uterine ligament" EXACT [MONDO:patterns/cancer]
synonym: "malignant uterine ligament neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C126498]
synonym: "tumor of the uterine ligament" EXACT EXCLUDE [DOID:5727]
synonym: "uterine ligament cancer" EXACT [MONDO:patterns/location]
xref: DOID:5727 {source="MONDO:equivalentTo"}
xref: NCIT:C126498 {source="MONDO:equivalentTo"}
xref: UMLS:C0864950 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C126498"}
is_a: MONDO:0000637 ! musculoskeletal system cancer
is_a: MONDO:0002974 ! cervical cancer
is_a: MONDO:0021629 {source="MONDO:Redundant", source="NCIT:C126498"} ! uterine ligament neoplasm
property_value: exactMatch DOID:5727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0864950
property_value: exactMatch NCIT:C126498

[Term]
id: MONDO:0003613
name: obsolete diffuse peritoneal leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0006183

[Term]
id: MONDO:0003614
name: intravenous leiomyomatosis
def: "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." [NCIT:C4518]
subset: gard_rare {source="GARD:0010802"}
synonym: "intravenous leiomyomatosis" EXACT [DOID:5729, NCIT:C4518]
xref: DOID:5729 {source="MONDO:equivalentTo"}
xref: GARD:0010802 {source="MONDO:equivalentTo"}
xref: ICD9:238.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4518 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5729"}
xref: SCTID:254883003 {source="MONDO:equivalentTo", source="DOID:5729", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346200 {source="NCIT:C4518", source="MONDO:equivalentTo", source="DOID:5729"}
is_a: MONDO:0003295 {source="DOID:5729", source="MONDOLEX:0003614", source="NCIT:C4518"} ! leiomyomatosis
property_value: exactMatch DOID:5729
property_value: exactMatch http://identifiers.org/snomedct/254883003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346200
property_value: exactMatch NCIT:C4518
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis xsd:anyURI {source="GARD:0010802"}

[Term]
id: MONDO:0003615
name: nerve compression syndrome
def: "Any nerve disorder caused by the entrapment and compression of a nerve." [NCIT:P378]
synonym: "compression neuropathy" EXACT [DOID:573]
synonym: "entrapment neuropathy" EXACT [DOID:573, NCIT:C27221]
synonym: "peripheral nerve entrapment syndrome" EXACT [DOID:573]
xref: DOID:573 {source="MONDO:equivalentTo"}
xref: MESH:D009408 {source="MONDO:equivalentTo", source="DOID:573"}
xref: NCIT:C27221 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:573"}
xref: SCTID:45781009 {source="MONDO:equivalentTo", source="DOID:573", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005244 {source="MONDOLEX:0003615", source="NCIT:C27221", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/155085004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027743
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510429
property_value: exactMatch DOID:573
property_value: exactMatch http://identifiers.org/mesh/D009408
property_value: exactMatch http://identifiers.org/snomedct/45781009
property_value: exactMatch NCIT:C27221

[Term]
id: MONDO:0003616
name: salpingitis isthmica nodosa
def: "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." [NCIT:P378]
xref: DOID:5730 {source="MONDO:equivalentTo"}
xref: NCIT:C40119 {source="DOID:5730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:36742000 {source="DOID:5730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0269043 {source="NCIT:C40119", source="DOID:5730", source="MONDO:equivalentTo"}
is_a: MONDO:0003617 {source="DOID:5730", source="linkedlifedata"} ! chronic salpingitis
property_value: exactMatch DOID:5730
property_value: exactMatch http://identifiers.org/snomedct/36742000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269043
property_value: exactMatch NCIT:C40119

[Term]
id: MONDO:0003617
name: chronic salpingitis
def: "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." [NCIT:P378]
synonym: "salpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:5731 {source="MONDO:equivalentTo"}
xref: ICD10:N70.11 {source="DOID:5731", source="MONDO:equivalentTo"}
xref: NCIT:C40118 {source="DOID:5731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:55551005 {source="DOID:5731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0269041 {source="DOID:5731", source="NCIT:C40118", source="MONDO:equivalentTo"}
is_a: MONDO:0003619 {source="DOID:5731", source="MONDO:Redundant", source="NCIT:C40118", source="linkedlifedata"} ! salpingitis
property_value: exactMatch DOID:5731
property_value: exactMatch http://identifiers.org/snomedct/55551005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269041
property_value: exactMatch NCIT:C40118

[Term]
id: MONDO:0003618
name: pyosalpinx
def: "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." [NCIT:P378]
synonym: "pyosalpingitis" EXACT [DOID:5732]
xref: DOID:5732 {source="MONDO:equivalentTo"}
xref: ICD10:N70 {source="DOID:5732"}
xref: NCIT:C34968 {source="DOID:5732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:397810006 {source="DOID:5732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0034220 {source="NCIT:C34968", source="DOID:5732", source="MONDO:equivalentTo"}
is_a: MONDO:0003619 {source="DOID:5732", source="linkedlifedata"} ! salpingitis
property_value: closeMatch http://identifiers.org/snomedct/155974004
property_value: closeMatch http://identifiers.org/snomedct/266651008
property_value: closeMatch http://identifiers.org/snomedct/35263009
property_value: closeMatch http://identifiers.org/snomedct/9400007
property_value: exactMatch DOID:5732
property_value: exactMatch http://identifiers.org/snomedct/397810006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034220
property_value: exactMatch NCIT:C34968

[Term]
id: MONDO:0003619
name: salpingitis
def: "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." [NCIT:P378]
synonym: "fallopian tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of fallopian tube" EXACT []
xref: DOID:5733 {source="MONDO:equivalentTo"}
xref: ICD10:N70.91 {source="DOID:5733"}
xref: MESH:D012488 {source="DOID:5733", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26880 {source="DOID:5733", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:88157006 {source="DOID:5733", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0036130 {source="NCIT:C26880", source="DOID:5733", source="MONDO:equivalentTo"}
is_a: MONDO:0000922 ! pelvic inflammatory disease
is_a: MONDO:0002156 {source="DOID:5733", source="MESH:D012488", source="MONDO:Redundant", source="NCIT:C26880/inferred", source="linkedlifedata"} ! fallopian tube disease
property_value: closeMatch http://identifiers.org/snomedct/155968004
property_value: closeMatch http://identifiers.org/snomedct/198151009
property_value: closeMatch http://identifiers.org/snomedct/266648001
property_value: exactMatch DOID:5733
property_value: exactMatch http://identifiers.org/mesh/D012488
property_value: exactMatch http://identifiers.org/snomedct/88157006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036130
property_value: exactMatch NCIT:C26880

[Term]
id: MONDO:0003620
name: peripheral nervous system disease
def: "A disease involving the peripheral nervous system." [MONDO:DesignPattern]
synonym: "disease of peripheral nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of peripheral nervous system" EXACT []
synonym: "disorder of peripheral nervous system" EXACT [MONDO:patterns/location_top, NCIT:C27580]
synonym: "disorder of peripheral nervous system" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the peripheral nervous system" EXACT []
synonym: "nerve disease, peripheral" NARROW [MESH:D010523]
synonym: "nerve diseases, peripheral" NARROW [MESH:D010523]
synonym: "neuropathy, peripheral" NARROW [MESH:D010523]
synonym: "peripheral nerve disease" NARROW [MESH:D010523, NCIT:C27580]
synonym: "peripheral nerve disease" RELATED [DOID:574, MTH:516]
synonym: "peripheral nerve diseases" NARROW [MESH:D010523]
synonym: "peripheral nervous disease" EXACT [DOID:574]
synonym: "peripheral nervous system disease" EXACT [MESH:D010523, MONDO:patterns/location, NCIT:C27580]
synonym: "peripheral nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nervous system disorder" EXACT [NCIT:C27580]
synonym: "peripheral nervous system disorders" EXACT [MESH:D010523]
synonym: "peripheral Neuropathies" NARROW [MESH:D010523]
synonym: "peripheral neuropathy" NARROW [MESH:D010523]
synonym: "peripheral neuropathy" RELATED [CSP2005:2042-6617, DOID:574]
synonym: "PNS (peripheral nervous system) diseases" EXACT [MESH:D010523]
synonym: "PNS disease" EXACT [MESH:D010523]
synonym: "PNS diseases" EXACT [MESH:D010523]
xref: DOID:574 {source="MONDO:equivalentTo"}
xref: ICD10:G64 {source="DOID:574"}
xref: ICD9:350-359.99 {source="DOID:574"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010523 {source="MONDO:equivalentTo", source="DOID:574"}
xref: NCIT:C27580 {source="MONDO:equivalentTo", source="DOID:574"}
xref: SCTID:42658009 {source="MONDO:equivalentTo", source="DOID:574"}
is_a: MONDO:0005071 {source="DOID:574", source="MESH:D010523/inferred", source="MONDO:Redundant", source="NCIT:C27580", source="linkedlifedata"} ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/155064004
property_value: closeMatch http://identifiers.org/snomedct/155080009
property_value: closeMatch http://identifiers.org/snomedct/155100008
property_value: closeMatch http://identifiers.org/snomedct/193088006
property_value: closeMatch http://identifiers.org/snomedct/193264002
property_value: closeMatch http://identifiers.org/snomedct/264554005
property_value: closeMatch http://identifiers.org/snomedct/267706009
property_value: closeMatch http://identifiers.org/snomedct/302226006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335029
property_value: closeMatch NCIT:C27587
property_value: exactMatch DOID:574
property_value: exactMatch http://identifiers.org/mesh/D010523
property_value: exactMatch http://identifiers.org/snomedct/42658009
property_value: exactMatch NCIT:C27580

[Term]
id: MONDO:0003621
name: small intestinal vasoactive intestinal peptide producing tumor
def: "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." [NCIT:P378]
synonym: "small intestinal vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27455]
synonym: "small intestinal VIP producing tumor" EXACT [DOID:5740, NCIT:C27455]
synonym: "small intestinal VIP-producing NET" EXACT [NCIT:C27455]
synonym: "small intestinal VIP-producing neuroendocrine tumor" EXACT [NCIT:C27455]
synonym: "small intestinal VIPoma" EXACT [NCIT:C27455]
xref: DOID:5740 {source="MONDO:equivalentTo"}
xref: NCIT:C27455 {source="DOID:5740", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336009 {source="DOID:5740", source="NCIT:C27455", source="MONDO:equivalentTo"}
is_a: MONDO:0002995 {source="NCIT:C27455"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0019960 {source="MONDOLEX:0003621", source="NCIT:C27455"} ! VIPoma
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:5740"} ! small intestine cancer
property_value: exactMatch DOID:5740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336009
property_value: exactMatch NCIT:C27455

[Term]
id: MONDO:0003622
name: pancreatic vasoactive intestinal peptide producing tumor
def: "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome." [NCIT:C27454]
synonym: "pancreatic vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C27454]
synonym: "pancreatic vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing neoplasm" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing NET" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing tumor" EXACT [DOID:5741, NCIT:C27454]
synonym: "pancreatic VIP-producing neuroendocrine tumor" EXACT [NCIT:C27454]
xref: DOID:5741 {source="MONDO:equivalentTo"}
xref: NCIT:C27454 {source="DOID:5741", source="MONDO:equivalentTo"}
xref: UMLS:C2033037 {source="DOID:5741", source="MONDO:equivalentTo"}
is_a: MONDO:0019960 {source="MONDOLEX:0003622", source="NCIT:C27454"} ! VIPoma
property_value: closeMatch NCIT:C95599
property_value: exactMatch DOID:5741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2033037
property_value: exactMatch NCIT:C27454

[Term]
id: MONDO:0003623
name: obsolete pancreatic acinar cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006346

[Term]
id: MONDO:0003624
name: acinic cell breast carcinoma
def: "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." [NCIT:C40367]
synonym: "acinar cell breast carcinoma" EXACT [MONDO:patterns/location]
synonym: "acinic cell breast carcinoma" EXACT [NCIT:C40367]
synonym: "breast carcinoma of acinar cell" EXACT [MONDO:design_pattern]
xref: DOID:5743 {source="MONDO:equivalentTo"}
xref: NCIT:C40367 {source="DOID:5743", source="MONDO:equivalentTo"}
xref: UMLS:C1515868 {source="DOID:5743", source="MONDO:equivalentTo", source="NCIT:C40367"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
is_a: MONDO:0004965 {source="DOID:5743", source="MONDO:Redundant", source="NCIT:C40367"} ! acinar cell carcinoma
property_value: exactMatch DOID:5743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515868
property_value: exactMatch NCIT:C40367

[Term]
id: MONDO:0003626
name: uterine ligament serous adenocarcinoma
def: "A rare serous adenocarcinoma that arises from the uterine ligament." [NCIT:C40136]
synonym: "uterine ligament serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40136]
xref: DOID:5747 {source="MONDO:equivalentTo"}
xref: NCIT:C40136 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5747", source="exact-label-match"}
xref: UMLS:C1519872 {source="MONDO:equivalentTo", source="DOID:5747", source="NCIT:C40136"}
is_a: MONDO:0002741 {source="DOID:5747", source="MONDO:Redundant", source="NCIT:C40136"} ! uterine ligament adenocarcinoma
is_a: MONDO:0003631 ! cervical serous adenocarcinoma
property_value: exactMatch DOID:5747
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519872
property_value: exactMatch NCIT:C40136

[Term]
id: MONDO:0003627
name: rheumatic pulmonary valve disease
def: "A rheumatologic disorder that involves the pulmonary valve." [MONDO:patterns/location]
synonym: "pulmonary valve rheumatologic disorder" EXACT [MONDO:patterns/location]
synonym: "rheumatic disease of pulmonary valve" EXACT [DOID:5748, ICD9CM_2006:397.1]
synonym: "rheumatic pulmonary incompetence" EXACT [DOID:5748]
synonym: "rheumatologic disorder of pulmonary valve" EXACT [MONDO:design_pattern]
xref: COHD:317296 {source="MONDO:equivalentTo"}
xref: DOID:5748 {source="MONDO:equivalentTo"}
xref: ICD10:I09.89 {source="DOID:5748"}
xref: ICD9:397.1 {source="MONDO:equivalentTo", source="DOID:5748", source="i2s"}
xref: SCTID:18687009 {source="MONDO:equivalentTo", source="DOID:5748", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155579 {source="MONDO:equivalentTo", source="DOID:5748"}
is_a: MONDO:0000603 {source="DOID:5748", source="MONDO:Entailed"} ! autoimmune disease of cardiovascular system
is_a: MONDO:0003628 {source="DOID:5748", source="MONDO:Redundant", source="linkedlifedata"} ! pulmonary valve disease
is_a: MONDO:0005554 {source="DOID:5748", source="MONDO:Redundant", source="MONDOLEX:0003627"} ! rheumatologic disorder
property_value: closeMatch http://identifiers.org/snomedct/194747005
property_value: closeMatch http://identifiers.org/snomedct/266283005
property_value: exactMatch DOID:5748
property_value: exactMatch http://identifiers.org/snomedct/18687009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155579

[Term]
id: MONDO:0003628
name: pulmonary valve disease
def: "A disease involving the pulmonary valve." [MONDO:DesignPattern]
synonym: "disease of pulmonary valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pulmonary valve" EXACT []
synonym: "disorder of pulmonary valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pulmonary valve" RELATED [MONDO:patterns/location_top]
synonym: "pulmonary valve disease" EXACT [MONDO:patterns/location]
synonym: "pulmonary valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pulmonary valve disorder" EXACT [DOID:5749, ICD9CM_2006:424.3]
xref: COHD:319845 {source="MONDO:equivalentTo"}
xref: DOID:5749 {source="MONDO:equivalentTo"}
xref: ICD9:424.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:5749"}
xref: NCIT:C78579 {source="MONDO:equivalentTo", source="DOID:5749", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:76267008 {source="MONDO:equivalentTo", source="DOID:5749", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034087 {source="MONDO:equivalentTo", source="DOID:5749", source="NCIT:C78579"}
is_a: MONDO:0002869 {source="DOID:5749", source="MONDO:Redundant", source="NCIT:C78579", source="linkedlifedata"} ! heart valve disease
property_value: closeMatch http://identifiers.org/snomedct/195001000
property_value: exactMatch DOID:5749
property_value: exactMatch http://identifiers.org/snomedct/76267008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034087
property_value: exactMatch NCIT:C78579

[Term]
id: MONDO:0003629
name: uterine corpus serous adenocarcinoma
def: "A serous adenocarcinoma that involves the uterine corpus." [MONDO:patterns/location]
synonym: "body of uterus serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "uterine papillary serous carcinoma" EXACT [DOID:5750]
synonym: "uterine serous carcinoma" EXACT EXCLUDE [DOID:5750]
synonym: "uterine serous carcinoma/uterine papillary serous carcinoma" RELATED [ONCOTREE:USC]
xref: DOID:5750 {source="MONDO:equivalentTo"}
xref: ONCOTREE:USC {source="MONDO:equivalentTo"}
xref: UMLS:C1336921 {source="DOID:5750", source="MONDO:equivalentTo"}
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0005278 {source="DOID:5750", source="MONDO:Redundant", source="MONDOLEX:0003629"} ! serous adenocarcinoma
is_a: MONDO:0006003 {source="DOID:5750", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854924
property_value: exactMatch DOID:5750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336921

[Term]
id: MONDO:0003630
name: pancreatic serous cystadenocarcinoma
def: "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." [NCIT:C5724]
subset: ordo_disease {source="Orphanet:424073"}
synonym: "pancreas serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic serous cystadenocarcinoma" EXACT [NCIT:C5724, Orphanet:424073]
synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724]
synonym: "serous cystadenocarcinoma of the pancreas" EXACT [NCIT:C5724]
xref: DOID:5751 {source="MONDO:equivalentTo"}
xref: ICD10:C25.0 {source="ORDO:424073/nd", source="Orphanet:424073"}
xref: ICD10:C25.1 {source="ORDO:424073/nd", source="Orphanet:424073"}
xref: ICD10:C25.2 {source="ORDO:424073/nd", source="Orphanet:424073"}
xref: ICD10:C25.7 {source="ORDO:424073/nd", source="Orphanet:424073"}
xref: ICD10:C25.8 {source="ORDO:424073/nd", source="Orphanet:424073"}
xref: NCIT:C5724 {source="DOID:5751", source="MONDO:equivalentTo"}
xref: Orphanet:424073 {source="MONDO:equivalentTo"}
xref: UMLS:C1335315 {source="DOID:5751", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:424073", source="NCIT:C5724"}
is_a: MONDO:0002810 {source="NCIT:C5724"} ! pancreatic serous cystic neoplasm
is_a: MONDO:0002867 {source="DOID:5751", source="MONDO:Redundant", source="MONDOLEX:0003630", source="NCIT:C5724"} ! pancreatic cystadenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="MONDOLEX:0003630", source="NCIT:C5724"} ! serous cystadenocarcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch DOID:5751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335315
property_value: exactMatch NCIT:C5724
property_value: exactMatch Orphanet:424073

[Term]
id: MONDO:0003631
name: cervical serous adenocarcinoma
def: "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." [NCIT:C40201]
synonym: "cervical serous adenocarcinoma" EXACT [NCIT:C40201]
xref: DOID:5752 {source="MONDO:equivalentTo"}
xref: NCIT:C40201 {source="DOID:5752", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516431 {source="DOID:5752", source="MONDO:equivalentTo", source="NCIT:C40201"}
is_a: MONDO:0005153 {source="DOID:5752", source="NCIT:C40201"} ! cervical adenocarcinoma
is_a: MONDO:0005278 {source="MONDO:Redundant", source="MONDOLEX:0003631", source="NCIT:C40201"} ! serous adenocarcinoma
property_value: exactMatch DOID:5752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516431
property_value: exactMatch NCIT:C40201

[Term]
id: MONDO:0003632
name: endocervicitis
def: "Inflammation of the endocervix." [NCIT:P378]
synonym: "endocervix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endocervix" EXACT []
xref: DOID:5757 {source="MONDO:equivalentTo"}
xref: NCIT:C26762 {source="DOID:5757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:31354001 {source="DOID:5757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014127 {source="NCIT:C26762", source="DOID:5757", source="MONDO:equivalentTo"}
is_a: MONDO:0002345 {source="DOID:5757", source="NCIT:C26762", source="linkedlifedata"} ! cervicitis (disease)
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155980007
property_value: closeMatch http://identifiers.org/snomedct/198201006
property_value: closeMatch http://identifiers.org/snomedct/266654000
property_value: exactMatch DOID:5757
property_value: exactMatch http://identifiers.org/snomedct/31354001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014127
property_value: exactMatch NCIT:C26762

[Term]
id: MONDO:0003633
name: malignant mesenchymoma
def: "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378]
synonym: "mesenchymoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mesenchymoma, malignant (morphologic abnormality)" EXACT [DOID:5758]
xref: DOID:5758 {source="MONDO:equivalentTo"}
xref: GARD:0003369 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICDO:8990/3 {source="NCIT:C4268"}
xref: NCIT:C4268 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:5758"}
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0006854 {source="DOID:5758", source="MONDO:Redundant", source="NCIT:C4268"} ! mesenchymoma
property_value: closeMatch http://identifiers.org/mesh/C535700
property_value: closeMatch http://identifiers.org/snomedct/89623007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334492
property_value: exactMatch DOID:5758
property_value: exactMatch NCIT:C4268

[Term]
id: MONDO:0003634
name: proteinuria
def: "The presence of abnormal amounts of protein in the urine." [NCIT:P378]
comment: Consider obsoleting / use HPO
xref: COHD:75650 {source="MONDO:equivalentTo"}
xref: DOID:576 {source="MONDO:equivalentTo"}
xref: ICD10:R80 {source="MONDO:equivalentTo", source="DOID:576"}
xref: ICD10:R80.9 {source="DOID:576"}
xref: ICD9:791.0 {source="DOID:576"}
xref: MESH:D011507 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:576"}
is_a: MONDO:0005240 {source="DOID:576"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/144515004
property_value: closeMatch http://identifiers.org/snomedct/158565005
property_value: closeMatch http://identifiers.org/snomedct/158568007
property_value: closeMatch http://identifiers.org/snomedct/167279003
property_value: closeMatch http://identifiers.org/snomedct/207310001
property_value: closeMatch http://identifiers.org/snomedct/207315006
property_value: closeMatch http://identifiers.org/snomedct/232691000
property_value: closeMatch http://identifiers.org/snomedct/236719005
property_value: closeMatch http://identifiers.org/snomedct/29738008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033687
property_value: exactMatch DOID:576
property_value: exactMatch http://identifiers.org/mesh/D011507
property_value: exactMatch NCIT:C38012

[Term]
id: MONDO:0003635
name: sebaceous breast carcinoma
def: "A very rare breast adenocarcinoma with sebaceous differentiation." [NCIT:C40369]
synonym: "breast sebaceous adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sebaceous adenocarcinoma of breast" EXACT [MONDO:design_pattern]
synonym: "sebaceous breast carcinoma" EXACT [NCIT:C40369]
xref: DOID:5760 {source="MONDO:equivalentTo"}
xref: NCIT:C40369 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5760"}
xref: UMLS:C1519207 {source="NCIT:C40369", source="MONDO:equivalentTo", source="DOID:5760"}
is_a: MONDO:0004988 {source="MONDO:Redundant", source="NCIT:C40369"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C40369"} ! invasive breast carcinoma
is_a: MONDO:0006962 {source="MONDO:Redundant", source="NCIT:C40369"} ! sebaceous adenocarcinoma
property_value: exactMatch DOID:5760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519207
property_value: exactMatch NCIT:C40369

[Term]
id: MONDO:0003636
name: vulvar sebaceous carcinoma
def: "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests." [NCIT:C40309]
synonym: "mammalian vulva sebaceous adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sebaceous adenocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
xref: DOID:5761 {source="MONDO:equivalentTo"}
xref: NCIT:C40309 {source="DOID:5761", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1520094 {source="DOID:5761", source="MONDO:equivalentTo", source="NCIT:C40309"}
is_a: MONDO:0006962 ! sebaceous adenocarcinoma
is_a: MONDO:0024336 ! vulvar adenocarcinoma
property_value: exactMatch DOID:5761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520094
property_value: exactMatch NCIT:C40309

[Term]
id: MONDO:0003637
name: clear cell-sugar-tumor of the lung
def: "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative." [NCIT:C38152]
synonym: "CCSTL" EXACT [NCIT:C38152]
synonym: "clear cell-Sugar-tumor of lung" EXACT [NCIT:C38152]
synonym: "clear cell-Sugar-tumor of the lung" EXACT [NCIT:C38152]
synonym: "lung clear cell tumor" EXACT [NCIT:C38152]
synonym: "lung clear cell-sugar-tumor" RELATED [DOID:5763]
synonym: "Sugar tumor" EXACT [NCIT:C38152]
xref: DOID:5763 {source="MONDO:equivalentTo"}
xref: NCIT:C38152 {source="DOID:5763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1333065 {source="DOID:5763", source="MONDO:equivalentTo", source="NCIT:C38152"}
is_a: MONDO:0002732 {source="DOID:5763", source="MONDOLEX:0003637", source="NCIT:C38152/inferred"} ! lung benign neoplasm
is_a: MONDO:0020581 ! benign PEComa
is_a: MONDO:0020588 ! lung PEComa
property_value: exactMatch DOID:5763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333065
property_value: exactMatch NCIT:C38152

[Term]
id: MONDO:0003638
name: lung meningioma
def: "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas." [NCIT:C5668]
synonym: "lung meningioma" EXACT [NCIT:C5668]
synonym: "lung meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "lung primary meningioma" EXACT [DOID:5764]
synonym: "meningioma (disease) of lung" EXACT []
synonym: "meningioma of lung" EXACT [NCIT:C5668]
synonym: "meningioma of the lung" EXACT [NCIT:C5668]
synonym: "primary pulmonary meningioma" EXACT [DOID:5764, NCIT:C5276]
synonym: "pulmonary meningioma" EXACT [DOID:5764, NCIT:C5668]
xref: DOID:5764 {source="MONDO:equivalentTo"}
xref: NCIT:C5668 {source="DOID:5764", source="MONDO:equivalentTo"}
xref: UMLS:C1334450 {source="DOID:5764", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5668"}
is_a: MONDO:0008903 {source="DOID:5764", source="MONDO:Entailed"} ! lung cancer
is_a: MONDO:0016642 {source="DOID:5764", source="MONDO:Redundant", source="MONDOLEX:0003638"} ! meningioma (disease)
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335488
property_value: closeMatch NCIT:C5276
property_value: exactMatch DOID:5764
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334450
property_value: exactMatch NCIT:C5668

[Term]
id: MONDO:0003639
name: lung hilum neoplasm
def: "A benign or malignant neoplasm that arises from the hilar region of the lung." [NCIT:C5671]
synonym: "hilar lung neoplasm" EXACT [NCIT:C5671]
synonym: "hilar lung tumor" EXACT [NCIT:C5671]
synonym: "lung hilum neoplasm" EXACT [NCIT:C5671]
synonym: "lung hilum tumor" EXACT [DOID:5767, NCIT:C5671]
synonym: "lung hilus neoplasm" EXACT []
synonym: "lung hilus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lung hilus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of hilus of lung" EXACT [DOID:5767]
synonym: "neoplasm of lung hilus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lung hilus" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5767 {source="MONDO:equivalentTo"}
xref: NCIT:C5671 {source="MONDO:equivalentTo", source="DOID:5767", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:126707007 {source="MONDO:equivalentTo", source="DOID:5767", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1290358 {source="NCIT:C5671", source="MONDO:equivalentTo", source="DOID:5767"}
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5671"} ! lung neoplasm
property_value: exactMatch DOID:5767
property_value: exactMatch http://identifiers.org/snomedct/126707007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290358
property_value: exactMatch NCIT:C5671

[Term]
id: MONDO:0003640
name: verruciform xanthoma of skin
def: "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." [NCIT:P378]
synonym: "cutaneous verruciform xanthoma" EXACT [DOID:5769, NCIT:C4478]
synonym: "skin verruciform xanthoma" EXACT [NCIT:C4478]
synonym: "verruciform xanthoma" EXACT [NCIT:C4478]
synonym: "verruciform xanthoma (morphologic abnormality)" EXACT [DOID:5769]
synonym: "verruciform xanthoma of the skin" EXACT [NCIT:C4478]
xref: DOID:5769 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4478 {source="MONDO:equivalentTo", source="DOID:5769", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254756007 {source="MONDO:kboom-pr-1.00/0.91/24.53", source="MONDO:equivalentTo", source="DOID:5769"}
xref: UMLS:C0346054 {source="MONDO:equivalentTo", source="NCIT:C4478", source="DOID:5769"}
is_a: MONDO:0005236 {source="NCIT:C4478"} ! xanthoma (disease)
relationship: excluded_subClassOf MONDO:0002615 {source="DOID:5769"} ! xanthomatosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/402477000
property_value: closeMatch http://identifiers.org/snomedct/66174008
property_value: exactMatch DOID:5769
property_value: exactMatch http://identifiers.org/snomedct/254756007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346054
property_value: exactMatch NCIT:C4478

[Term]
id: MONDO:0003641
name: central nervous system hematopoietic neoplasm
def: "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." [NCIT:C5503]
synonym: "central nervous system hematologic cancer" RELATED [DOID:5772]
synonym: "central nervous system hematopoietic and lymphoid system neoplasm" EXACT [MONDO:patterns/location]
synonym: "central nervous system hematopoietic neoplasm" EXACT [NCIT:C5503]
synonym: "central nervous system hematopoietic neoplasms" EXACT [NCIT:C5503]
synonym: "central nervous system hematopoietic tumor" EXACT [NCIT:C5503]
synonym: "CNS hematopoietic neoplasm" EXACT [NCIT:C5503]
synonym: "CNS hematopoietic tumor" EXACT [DOID:5772, NCIT:C5503]
synonym: "hematopoietic and lymphoid system neoplasm of central nervous system" EXACT [MONDO:design_pattern]
synonym: "hematopoietic neoplasm of central nervous system" EXACT [DOID:5772, NCIT:C5503]
synonym: "hematopoietic neoplasm of CNS" EXACT [NCIT:C5503]
synonym: "hematopoietic neoplasm of the central nervous system" EXACT [NCIT:C5503]
synonym: "hematopoietic neoplasm of the CNS" EXACT [NCIT:C5503]
synonym: "hematopoietic tumor of central nervous system" EXACT [NCIT:C5503]
synonym: "hematopoietic tumor of the central nervous system" EXACT [NCIT:C5503]
synonym: "lymphomas and hemopoietic neoplasms of CNS" EXACT [NCIT:C5503]
synonym: "lymphomas and hemopoietic neoplasms of the CNS" EXACT [NCIT:C5503]
xref: DOID:5772 {source="MONDO:equivalentTo"}
xref: NCIT:C5503 {source="DOID:5772", source="MONDO:equivalentTo"}
xref: UMLS:C1332882 {source="DOID:5772", source="MONDO:equivalentTo", source="NCIT:C5503"}
is_a: MONDO:0006130 {source="MONDO:Redundant", source="MONDOLEX:0003641", source="NCIT:C5503"} ! central nervous system neoplasm
is_a: MONDO:0044881 {source="NCIT:C5503"} ! hematopoietic and lymphoid cell neoplasm
relationship: excluded_subClassOf MONDO:0002714 {source="DOID:5772"} ! central nervous system cancer
property_value: exactMatch DOID:5772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332882
property_value: exactMatch NCIT:C5503

[Term]
id: MONDO:0003642
name: obsolete oral submucous fibrosis
is_obsolete: true
replaced_by: MONDO:0018166

[Term]
id: MONDO:0003643
name: giant hemangioma
def: "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." [NCIT:C27777]
synonym: "giant hemangioma" EXACT [NCIT:C27777]
xref: DOID:5774 {source="MONDO:equivalentTo"}
xref: NCIT:C27777 {source="DOID:5774", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333817 {source="DOID:5774", source="MONDO:equivalentTo", source="NCIT:C27777"}
is_a: MONDO:0003155 {source="DOID:5774", source="NCIT:C27777"} ! cavernous hemangioma
property_value: exactMatch DOID:5774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333817
property_value: exactMatch NCIT:C27777

[Term]
id: MONDO:0003644
name: cavernous hemangioma of colon
def: "A cavernous hemangioma arising from the colon." [NCIT:P378]
synonym: "cavernous angioma of colon" EXACT [NCIT:C5395]
synonym: "cavernous angioma of the colon" EXACT [NCIT:C5395]
synonym: "cavernous hemangioma of colon" EXACT [NCIT:C5395]
synonym: "cavernous hemangioma of the colon" EXACT [NCIT:C5395]
synonym: "colon cavernous angioma" EXACT [NCIT:C5395]
synonym: "colon cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C5395]
synonym: "colonic cavernous angioma" EXACT [NCIT:C5395]
synonym: "colonic cavernous hemangioma" EXACT [DOID:5775, NCIT:C5395]
xref: DOID:5775 {source="MONDO:equivalentTo"}
xref: NCIT:C5395 {source="DOID:5775", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333086 {source="DOID:5775", source="NCIT:C5395", source="MONDO:equivalentTo"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5395"} ! benign colon neoplasm
is_a: MONDO:0003155 {source="DOID:5775", source="MONDO:Redundant", source="MONDOLEX:0003644", source="NCIT:C5395"} ! cavernous hemangioma
is_a: MONDO:0024479 ! epithelial tumor of colon
property_value: exactMatch DOID:5775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333086
property_value: exactMatch NCIT:C5395

[Term]
id: MONDO:0003645
name: cavernous hemangioma of face
alt_id: MONDO:0006125
def: "A cavernous hemangioma arising from the face." [NCIT:P378]
synonym: "cavernous hemangioma of face" EXACT [NCIT:C7053]
synonym: "cavernous hemangioma of the Face" EXACT [NCIT:C7053]
synonym: "face cavernous hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:5776 {source="MONDO:equivalentTo"}
xref: EFO:1000152 {source="MONDO:equivalentTo"}
xref: HP:0007486 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C7053 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="EFO:1000152", source="DOID:5776", source="MONDO:equivalentTo"}
xref: UMLS:C1332863 {source="DOID:5776", source="MONDO:equivalentTo", source="NCIT:C7053"}
is_a: MONDO:0003155 {source="DOID:5776", source="MONDO:Redundant", source="MONDOLEX:0003645", source="NCIT:C7053"} ! cavernous hemangioma
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0044987 ! face disease
property_value: exactMatch DOID:5776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332863
property_value: exactMatch NCIT:C7053

[Term]
id: MONDO:0003646
name: rectum neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5698]
synonym: "NET of the rectum" EXACT [Orphanet:100081]
synonym: "neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5698]
synonym: "neuroendocrine neoplasm of the rectum" EXACT [NCIT:C5698]
synonym: "neuroendocrine tumor of rectum" EXACT [DOID:5777, NCIT:C5698]
synonym: "rectal NET" EXACT [Orphanet:100081]
synonym: "rectal neuroendocrine neoplasm" EXACT [NCIT:C5698]
synonym: "rectum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "rectum neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: DOID:5777 {source="MONDO:equivalentTo"}
xref: NCIT:C5698 {source="DOID:5777", source="MONDO:equivalentTo"}
xref: Orphanet:100081 {source="MONDO:equivalentTo"}
xref: UMLS:C1335686 {source="MEDGEN:kboom-pr98-c99", source="DOID:5777", source="MONDO:equivalentTo", source="NCIT:C5698"}
is_a: MONDO:0002883 {source="DOID:5777", source="MONDO:Redundant", source="NCIT:C5698/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0024476 {source="Orphanet:100081"} ! epithelial neoplasm of rectum
relationship: excluded_subClassOf MONDO:0006519 {source="DOID:5777"} ! rectal cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0018514"} ! rare
property_value: exactMatch DOID:5777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335686
property_value: exactMatch NCIT:C5698
property_value: exactMatch Orphanet:100081

[Term]
id: MONDO:0003647
name: atrophic flaccid tympanic membrane
xref: DOID:5781 {source="MONDO:equivalentTo"}
xref: ICD10:H73.81 {source="DOID:5781"}
xref: ICD9:384.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:5781"}
xref: SCTID:38645004 {source="MONDO:equivalentTo", source="DOID:5781", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155470 {source="MONDO:equivalentTo", source="DOID:5781"}
is_a: MONDO:0003648 {source="DOID:5781", source="linkedlifedata"} ! tympanic membrane disease
property_value: closeMatch http://identifiers.org/snomedct/194322005
property_value: exactMatch DOID:5781
property_value: exactMatch http://identifiers.org/snomedct/38645004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155470

[Term]
id: MONDO:0003648
name: tympanic membrane disease
def: "A disease involving the tympanic membrane." [MONDO:DesignPattern]
synonym: "disease of tympanic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tympanic membrane" EXACT []
synonym: "disorder of tympanic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disorder of tympanic membrane" RELATED [MONDO:patterns/location_top]
synonym: "tympanic membrane disease" EXACT [MONDO:patterns/location]
synonym: "tympanic membrane disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5782 {source="MONDO:equivalentTo"}
xref: ICD10:H73.9 {source="DOID:5782"}
xref: ICD10:H73.90 {source="DOID:5782"}
xref: ICD9:384.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:5782"}
xref: SCTID:21426000 {source="MONDO:equivalentTo", source="DOID:5782"}
xref: UMLS:C0041825 {source="MONDO:equivalentTo", source="DOID:5782"}
is_a: MONDO:0003276 {source="DOID:5782", source="MONDO:Redundant", source="linkedlifedata"} ! middle ear disease
property_value: closeMatch http://identifiers.org/snomedct/194326008
property_value: exactMatch DOID:5782
property_value: exactMatch http://identifiers.org/snomedct/21426000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041825

[Term]
id: MONDO:0003649
name: esophageal neuroendocrine tumor
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." [NCIT:P378]
subset: ordo_disease
synonym: "esophageal NEN" EXACT [Orphanet:506136]
synonym: "esophageal NET" EXACT [NCIT:C95616]
synonym: "esophageal neuroendocrine neoplasm" EXACT [Orphanet:506136]
synonym: "esophageal neuroendocrine tumor" EXACT [NCIT:C95616]
synonym: "esophageal well differentiated endocrine tumor" EXACT [NCIT:C95616]
synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95616]
synonym: "esophagus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "esophagus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "esophagus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "esophagus neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "NEN of esophagus" EXACT [Orphanet:506136]
synonym: "neuroendocrine neoplasm of esophagus" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of esophagus" RELATED [Orphanet:506136]
synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784, NCIT:C5821]
xref: DOID:5784 {source="MONDO:equivalentTo"}
xref: NCIT:C95616 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:506136 {source="MONDO:equivalentTo"}
xref: UMLS:C1333462 {source="DOID:5784", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2987260 {source="NCIT:C95616", source="MONDO:equivalentTo"}
is_a: MONDO:0000386 {source="NCIT:C95616", source="OWLReasoner:2017"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C95616/inferred"} ! neoplasm of esophagus
property_value: closeMatch NCIT:C5821
property_value: exactMatch DOID:5784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333462
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987260
property_value: exactMatch NCIT:C95616
property_value: exactMatch Orphanet:506136

[Term]
id: MONDO:0003650
name: mixed hepatoblastoma
def: "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." [NCIT:P378]
synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [DOID:5789]
xref: DOID:5789 {source="MONDO:equivalentTo"}
xref: ICDO:8970/3 {source="NCIT:C7097"}
xref: NCIT:C7097 {source="MONDO:equivalentTo", source="DOID:5789", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334784 {source="MONDO:equivalentTo", source="DOID:5789", source="NCIT:C7097"}
is_a: MONDO:0018666 {source="DOID:5789", source="MONDOLEX:0003650", source="NCIT:C7097"} ! hepatoblastoma
property_value: exactMatch DOID:5789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334784
property_value: exactMatch NCIT:C7097

[Term]
id: MONDO:0003651
name: macrotrabecular hepatoblastoma
def: "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae." [NCIT:P378]
xref: DOID:5798 {source="MONDO:equivalentTo"}
xref: NCIT:C7095 {source="DOID:5798", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334543 {source="DOID:5798", source="MONDO:equivalentTo", source="NCIT:C7095"}
is_a: MONDO:0018666 {source="DOID:5798", source="MONDOLEX:0003651", source="NCIT:C7095"} ! hepatoblastoma
property_value: exactMatch DOID:5798
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334543
property_value: exactMatch NCIT:C7095

[Term]
id: MONDO:0003652
name: acute urate nephropathy
def: "Urolithiasis in which the composition of the stones is predominantly urate." [NCIT:P378]
synonym: "uric acid nephrolithiasis" EXACT [DOID:580, ICD9CM_2006:274.11]
synonym: "uric acid urolithiasis" EXACT [DOID:580]
xref: COHD:80070 {source="MONDO:equivalentTo"}
xref: DOID:580 {source="MONDO:equivalentTo"}
xref: ICD9:274.11 {source="DOID:580"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C123037 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:580"}
xref: SCTID:236496000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.83/1.50"}
xref: UMLS:C0341712 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0403719 {source="MONDO:equivalentTo", source="DOID:580"}
is_a: MONDO:0008171 {source="NCIT:C123037"} ! nephrolithiasis
property_value: closeMatch http://identifiers.org/snomedct/16410004
property_value: closeMatch http://identifiers.org/snomedct/190831009
property_value: closeMatch http://identifiers.org/snomedct/197793002
property_value: closeMatch http://identifiers.org/snomedct/267441009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0558595
property_value: closeMatch NCIT:C123245
property_value: exactMatch DOID:580
property_value: exactMatch http://identifiers.org/snomedct/236496000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403719
property_value: exactMatch NCIT:C123037

[Term]
id: MONDO:0003653
name: stork bite
synonym: "Salmon patch nevus" EXACT [DOID:5806]
synonym: "Unna's nevus" EXACT [DOID:5806, NCIT:C4399]
xref: DOID:5806 {source="MONDO:equivalentTo"}
xref: SCTID:254211001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016231 {source="linkedlifedata"} ! capillary malformation
relationship: excluded_subClassOf MONDO:0002407 {source="DOID:5806"} ! capillary hemangioma
property_value: exactMatch DOID:5806
property_value: exactMatch http://identifiers.org/snomedct/254211001

[Term]
id: MONDO:0003654
name: childhood parosteal osteosarcoma
def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent." [NCIT:C6589]
synonym: "childhood parosteal osteogenic sarcoma" EXACT [NCIT:C6589]
synonym: "childhood parosteal osteosarcoma" EXACT [NCIT:C6589]
xref: DOID:5809 {source="MONDO:equivalentTo"}
xref: NCIT:C6589 {source="MONDO:equivalentTo", source="DOID:5809", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332994 {source="MONDO:equivalentTo", source="NCIT:C6589", source="DOID:5809"}
is_a: MONDO:0002623 {source="MONDO:Redundant", source="MONDOLEX:0003654", source="NCIT:C6589"} ! pediatric osteosarcoma
is_a: MONDO:0006817 {source="DOID:5809", source="MONDO:Redundant", source="NCIT:C6589"} ! juxtacortical osteosarcoma
intersection_of: MONDO:0002623 {source="NCIT:C6589"} ! pediatric osteosarcoma
intersection_of: MONDO:0006817 {source="NCIT:C6589"} ! juxtacortical osteosarcoma
property_value: exactMatch DOID:5809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332994
property_value: exactMatch NCIT:C6589

[Term]
id: MONDO:0003655
name: cerebral lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion." [NCIT:C7611]
synonym: "brain primary lymphoma" EXACT [DOID:5815]
synonym: "cerebral lymphoma" EXACT [NCIT:C7611]
synonym: "primary cerebral lymphoma" EXACT [NCIT:C7611]
synonym: "primary lymphoma of cerebrum" EXACT [DOID:5815, NCIT:C3883, NCIT:C7611]
synonym: "primary lymphoma of the cerebrum" EXACT [NCIT:C7611]
synonym: "primary lymphoma, brain" EXACT [NCIT:C7611]
xref: DOID:5815 {source="MONDO:equivalentTo"}
xref: NCIT:C7611 {source="MONDO:equivalentTo", source="DOID:5815"}
xref: SCTID:276836002 {source="MONDO:equivalentTo", source="DOID:5815", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0240803 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7611", source="DOID:5815"}
is_a: MONDO:0002571 {source="NCIT:C7611"} ! primary central nervous system lymphoma
is_a: MONDO:0002731 {source="DOID:5815", source="NCIT:C7611", source="linkedlifedata"} ! cerebral hemisphere cancer
property_value: exactMatch DOID:5815
property_value: exactMatch http://identifiers.org/snomedct/276836002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0240803
property_value: exactMatch NCIT:C7611

[Term]
id: MONDO:0003656
name: hemoglobinuria
def: "A laboratory test result which indicates free hemoglobin in the urine." [NCIT:P378]
comment: May be obsoleted as it represents a finding
xref: DOID:582 {source="MONDO:equivalentTo"}
xref: ICD10:R82.3 {source="MONDO:equivalentTo", source="DOID:582"}
xref: ICD9:791.2 {source="DOID:582"}
xref: MESH:D006456 {source="MONDO:equivalentTo", source="DOID:582", source="MONDO:ontobio"}
xref: UMLS:C0019048 {source="MONDO:equivalentTo", source="DOID:582"}
is_a: MONDO:0003634 {source="DOID:582", source="MESH:D006456"} ! proteinuria
relationship: excluded_subClassOf MONDO:0003664 {source="DOID:582"} ! hemolytic anemia
property_value: closeMatch http://identifiers.org/snomedct/158571004
property_value: closeMatch http://identifiers.org/snomedct/207317003
property_value: closeMatch http://identifiers.org/snomedct/68600005
property_value: exactMatch DOID:582
property_value: exactMatch http://identifiers.org/mesh/D006456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019048
property_value: exactMatch NCIT:C34677

[Term]
id: MONDO:0003657
name: obsolete methotrexate-associated lymphoproliferation
is_obsolete: true
replaced_by: MONDO:0019483

[Term]
id: MONDO:0003658
name: B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma
def: "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." [NCIT:C37869]
subset: gard_rare {source="GARD:0010897"}
synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37869]
synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37869]
synonym: "Gray zone lymphoma" EXACT [NCIT:C37869]
synonym: "Hodgkin-like anaplastic large cell lymphoma" EXACT [NCIT:C37869]
synonym: "large B-cell lymphoma with Hodgkin features" EXACT [NCIT:C37869]
xref: DOID:5822 {source="MONDO:equivalentTo"}
xref: GARD:0010897 {source="MONDO:equivalentTo"}
xref: ICDO:9596/3 {source="NCIT:C37869"}
xref: NCIT:C37869 {source="MONDO:equivalentTo", source="DOID:5822"}
xref: UMLS:C1333878 {source="MONDO:equivalentTo", source="DOID:5822", source="NCIT:C37869"}
is_a: MONDO:0005062 {source="DOID:5822", source="NCIT:C37869"} ! lymphoma
property_value: exactMatch DOID:5822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333878
property_value: exactMatch NCIT:C37869
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma xsd:anyURI {source="GARD:0010897"}

[Term]
id: MONDO:0003659
name: pediatric lymphoma
def: "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." [NCIT:P378]
synonym: "childhood lymphoma" EXACT [NCIT:C5165]
synonym: "lymphoma" EXACT [NCIT:C5165]
synonym: "pediatric lymphoma" EXACT [NCIT:C5165]
xref: DOID:5823 {source="MONDO:equivalentTo"}
xref: NCIT:C5165 {source="DOID:5823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.32"}
xref: UMLS:C1332979 {source="NCIT:C5165", source="DOID:5823", source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="DOID:5823", source="NCIT:C5165"} ! lymphoma
is_a: MONDO:0006517 {source="NCIT:C5165"} ! childhood malignant neoplasm
property_value: exactMatch DOID:5823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332979
property_value: exactMatch NCIT:C5165

[Term]
id: MONDO:0003660
name: adult lymphoma
def: "A lymphoma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult lymphoma" EXACT [NCIT:C7587]
synonym: "lymphoma" EXACT [NCIT:C7587]
synonym: "lymphoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5825 {source="MONDO:equivalentTo"}
xref: NCIT:C7587 {source="MONDO:equivalentTo", source="DOID:5825"}
xref: UMLS:C1332206 {source="NCIT:C7587", source="MONDO:equivalentTo", source="DOID:5825"}
is_a: MONDO:0005062 {source="DOID:5825", source="MONDO:Redundant", source="NCIT:C7587"} ! lymphoma
property_value: exactMatch DOID:5825
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332206
property_value: exactMatch NCIT:C7587

[Term]
id: MONDO:0003661
name: breast lymphoma
def: "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare." [NCIT:P378]
synonym: "breast lymphoma" EXACT [MONDO:patterns/location, NCIT:C4671]
synonym: "lymphoma of breast" EXACT [DOID:5826, NCIT:C4671]
synonym: "lymphoma of the breast" EXACT [DOID:5826, NCIT:C4671]
synonym: "malignant lymphoma of breast" EXACT [DOID:5826]
synonym: "primary breast lymphoma" EXACT [NCIT:C4671]
xref: DOID:5826 {source="MONDO:equivalentTo"}
xref: NCIT:C4671 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:278052009 {source="MONDO:equivalentTo", source="DOID:5826", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349669 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4671", source="MONDO:equivalentTo", source="DOID:5826"}
xref: UMLS:C1704251 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671/inferred", source="linkedlifedata"} ! lymphoma
is_a: MONDO:0007254 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671", source="linkedlifedata"} ! breast cancer
property_value: exactMatch DOID:5826
property_value: exactMatch http://identifiers.org/snomedct/278052009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704251
property_value: exactMatch NCIT:C4671

[Term]
id: MONDO:0003662
name: obsolete endometrioid ovary carcinoma
is_obsolete: true
replaced_by: MONDO:0006335

[Term]
id: MONDO:0003663
name: uterine ligament endometrioid adenocarcinoma
def: "A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis." [NCIT:C40138]
synonym: "endometrioid adenocarcinoma of uterine ligament" EXACT [MONDO:design_pattern]
synonym: "uterine ligament endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40138]
xref: DOID:5829 {source="MONDO:equivalentTo"}
xref: NCIT:C40138 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5829", source="exact-label-match"}
xref: UMLS:C1519868 {source="NCIT:C40138", source="MONDO:equivalentTo", source="DOID:5829"}
is_a: MONDO:0002741 {source="DOID:5829", source="MONDO:Redundant", source="NCIT:C40138"} ! uterine ligament adenocarcinoma
is_a: MONDO:0003665 ! cervical endometrioid adenocarcinoma
property_value: exactMatch DOID:5829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519868
property_value: exactMatch NCIT:C40138

[Term]
id: MONDO:0003664
name: hemolytic anemia
def: "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." [NCIT:C34376]
synonym: "anemia hemolytic" EXACT [DOID:583, MTH:NOCODE]
synonym: "anemia, hemolytic" EXACT [NCIT:C34376]
synonym: "hemolytic anemia" EXACT [NCIT:C34376]
xref: DOID:583 {source="MONDO:equivalentTo"}
xref: EFO:0005558 {source="MONDO:equivalentTo"}
xref: ICD10:D55-D59 {source="DOID:583"}
xref: ICD10:D55.D59 {source="MONDO:equivalentTo"}
xref: MESH:D000743 {source="MONDO:equivalentTo", source="DOID:583"}
xref: NCIT:C34376 {source="MONDO:equivalentTo", source="DOID:583", source="exact-label-match"}
xref: SCTID:61261009 {source="MONDO:equivalentTo", source="DOID:583", source="MONDO:kboom-pr-1.00/0.91/29.62"}
is_a: MONDO:0004139 {source="DOID:583", source="NCIT:C34376"} ! normocytic anemia
property_value: closeMatch http://identifiers.org/snomedct/191231008
property_value: closeMatch http://identifiers.org/snomedct/191416001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002878
property_value: exactMatch DOID:583
property_value: exactMatch http://identifiers.org/mesh/D000743
property_value: exactMatch http://identifiers.org/snomedct/61261009
property_value: exactMatch NCIT:C34376

[Term]
id: MONDO:0003665
name: cervical endometrioid adenocarcinoma
def: "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." [NCIT:C6343]
synonym: "cervical endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervical endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "cervix endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervix endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "cervix uteri endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervix uteri endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of the cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of the cervix uteri" EXACT [DOID:5830, NCIT:C6343]
synonym: "endometrioid carcinoma of the uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of uterine cervix" EXACT [NCIT:C6343]
synonym: "uterine cervix endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6343]
synonym: "uterine cervix endometrioid carcinoma" EXACT [NCIT:C6343]
xref: DOID:5830 {source="MONDO:equivalentTo"}
xref: EFO:1000164 {source="MONDO:equivalentTo"}
xref: NCIT:C6343 {source="DOID:5830", source="EFO:1000164", source="MONDO:equivalentTo"}
xref: ONCOTREE:CEEN {source="MONDO:equivalentTo"}
xref: UMLS:C1332913 {source="DOID:5830", source="NCIT:C6343", source="MONDO:equivalentTo"}
is_a: MONDO:0005026 {source="MONDO:Redundant", source="MONDOLEX:0003665", source="NCIT:C6343"} ! endometrioid adenocarcinoma
is_a: MONDO:0005153 {source="DOID:5830", source="MONDOLEX:0003665", source="NCIT:C6343", source="ONCOTREE:CEEN"} ! cervical adenocarcinoma
property_value: exactMatch DOID:5830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332913
property_value: exactMatch NCIT:C6343

[Term]
id: MONDO:0003666
name: fallopian tube endometrioid adenocarcinoma
def: "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." [NCIT:C6279]
synonym: "endometrioid adenocarcinoma of fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid adenocarcinoma of the fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid carcinoma of fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid carcinoma of the fallopian tube" EXACT [DOID:5831, NCIT:C6279]
synonym: "fallopian tube endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6279]
synonym: "fallopian tube endometrioid cancer" EXACT [DOID:5831]
synonym: "fallopian tube endometrioid carcinoma" EXACT [NCIT:C6279]
synonym: "fallopian tube endometrioid neoplasm" RELATED [DOID:5831]
xref: DOID:5831 {source="MONDO:equivalentTo"}
xref: NCIT:C6279 {source="MONDO:kboom-pr-0.96/0.80/2.02", source="DOID:5831", source="MONDO:equivalentTo"}
xref: UMLS:C1333592 {source="DOID:5831", source="MONDO:equivalentTo", source="NCIT:C6279"}
is_a: MONDO:0002746 {source="DOID:5831", source="MONDO:Redundant", source="MONDOLEX:0003666", source="NCIT:C6279"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005026 {source="MONDO:Redundant", source="MONDOLEX:0003666", source="NCIT:C6279"} ! endometrioid adenocarcinoma
property_value: exactMatch DOID:5831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333592
property_value: exactMatch NCIT:C6279

[Term]
id: MONDO:0003667
name: obsolete spermatocytoma
synonym: "spermatocytic seminoma" EXACT [DOID:5834, NCIT:C4284]
synonym: "spermatocytic seminoma (morphologic abnormality)" EXACT [DOID:5834]
is_obsolete: true
replaced_by: MONDO:0020513

[Term]
id: MONDO:0003668
name: extragonadal seminoma
synonym: "extragonadal primary seminoma" EXACT [NCIT:C7327]
synonym: "extragonadal seminoma" EXACT [NCIT:C7327]
synonym: "primary extragonadal seminoma" EXACT [DOID:5838, NCIT:C7327]
xref: DOID:5838 {source="MONDO:equivalentTo"}
xref: NCIT:C7327 {source="MONDO:equivalentTo", source="DOID:5838", source="exact-label-match"}
xref: UMLS:C1333502 {source="MONDO:equivalentTo", source="NCIT:C7327", source="DOID:5838"}
is_a: MONDO:0003001 {source="DOID:5838", source="NCIT:C7327"} ! seminoma
is_a: MONDO:0003113 {source="NCIT:C7327"} ! extragonadal germ cell cancer
property_value: exactMatch DOID:5838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333502
property_value: exactMatch NCIT:C7327

[Term]
id: MONDO:0003669
name: testicular seminoma
def: "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." [NCIT:C7328]
subset: gard_rare {source="GARD:0004792"}
subset: ordo_disease {source="Orphanet:842"}
synonym: "seminoma of testis" EXACT [DOID:5842, NCIT:C7328, Orphanet:842]
synonym: "seminoma of the testis" EXACT [NCIT:C7328]
synonym: "seminoma testis" EXACT [DOID:5842]
synonym: "seminomatous germ cell tumor of testis" EXACT [Orphanet:842]
synonym: "testicular seminoma" EXACT [MONDO:ambiguous, NCIT:C7328, Orphanet:842]
synonym: "testicular seminoma (disease)" EXACT [MONDO:0005245]
synonym: "testicular seminoma Pure" EXACT [DOID:5842, NCIT:C7328]
synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400]
synonym: "testis seminoma" EXACT [MONDO:patterns/location]
xref: DOID:5842 {source="MONDO:equivalentTo"}
xref: EFO:0003101 {source="MONDO:equivalentTo"}
xref: GARD:0004792 {source="MONDO:equivalentTo"}
xref: HP:0100617 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C62.9 {source="Orphanet:842", source="ORDO:842/ntbt"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7328 {source="EFO:0003101", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:842 {source="MONDO:equivalentTo"}
xref: SCTID:255107005 {source="MONDO:kboom-pr-1.00/0.92/6.36", source="EFO:0003101", source="DOID:5842", source="MONDO:equivalentTo"}
is_a: MONDO:0002874 {source="NCIT:C7328"} ! testicular pure germ cell tumor
is_a: MONDO:0003001 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328", source="linkedlifedata"} ! seminoma
is_a: MONDO:0003510 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328", source="linkedlifedata"} ! malignant testicular germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/154532006
property_value: closeMatch http://identifiers.org/snomedct/188228003
property_value: closeMatch http://identifiers.org/snomedct/189840000
property_value: closeMatch http://identifiers.org/snomedct/189841001
property_value: closeMatch http://identifiers.org/snomedct/269603004
property_value: closeMatch http://identifiers.org/snomedct/36741007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036631
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2242808
property_value: exactMatch DOID:5842
property_value: exactMatch http://identifiers.org/snomedct/255107005
property_value: exactMatch NCIT:C7328
property_value: exactMatch Orphanet:842
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma xsd:anyURI {source="GARD:0004792"}

[Term]
id: MONDO:0003670
name: posteroinferior myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." [NCIT:C36068]
comment: Editor note: TODO: positional superclass
synonym: "posteroinferior myocardial infarction by ECG finding" EXACT [NCIT:C36068]
synonym: "posteroinferior myocardial infarction by EKG finding" EXACT [NCIT:C36068]
xref: DOID:5843 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5843"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642318
property_value: exactMatch DOID:5843
property_value: exactMatch NCIT:C36068

[Term]
id: MONDO:0003671
name: septal myocardial infarction
def: "A myocardial infarction (disease) that involves the cardiac septum." [MONDO:patterns/location]
synonym: "cardiac septum myocardial infarction (disease)" EXACT [MONDO:patterns/location]
synonym: "myocardial infarction (disease) of cardiac septum" EXACT []
xref: DOID:5846 {source="MONDO:equivalentTo"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0005068 {source="DOID:5846", source="MONDO:Redundant"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0746727
property_value: exactMatch DOID:5846

[Term]
id: MONDO:0003672
name: posterior myocardial infarction
synonym: "true posterior myocardial infarction" EXACT []
synonym: "true posterior wall infarction" RELATED []
xref: DOID:5847 {source="MONDO:equivalentTo"}
xref: SCTID:194802003 {source="MONDO:equivalentTo"}
xref: UMLS:C0264706 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5847", source="linkedlifedata"} ! myocardial infarction (disease)
property_value: closeMatch http://identifiers.org/snomedct/194800006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340319
property_value: exactMatch DOID:5847
property_value: exactMatch http://identifiers.org/snomedct/194802003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264706

[Term]
id: MONDO:0003673
name: apical myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." [NCIT:P378]
xref: DOID:5848 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5848"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642319
property_value: exactMatch DOID:5848
property_value: exactMatch NCIT:C36073

[Term]
id: MONDO:0003674
name: subendocardial myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." [NCIT:P378]
synonym: "myocardial infarction (disease) of subendocardium layer" EXACT []
synonym: "subendocardium layer myocardial infarction (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5849 {source="MONDO:equivalentTo"}
xref: UMLS:C0262568 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5849", source="MONDO:Redundant"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642476
property_value: exactMatch DOID:5849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262568
property_value: exactMatch NCIT:C35305

[Term]
id: MONDO:0003675
name: posterolateral myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." [NCIT:P378]
xref: DOID:5851 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5851"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642463
property_value: exactMatch DOID:5851
property_value: exactMatch NCIT:C35672

[Term]
id: MONDO:0003676
name: inferolateral myocardial infarct
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." [NCIT:P378]
xref: DOID:5852 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5852"} ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3537017
property_value: exactMatch DOID:5852
property_value: exactMatch NCIT:C35673

[Term]
id: MONDO:0003677
name: lateral myocardial infarction
xref: DOID:5853 {source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5853"} ! myocardial infarction (disease)
property_value: closeMatch http://identifiers.org/snomedct/194801005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340312
property_value: exactMatch DOID:5853

[Term]
id: MONDO:0003678
name: silent myocardial infarction
def: "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings." [NCIT:C35400]
synonym: "silent myocardial infarction" EXACT [DOID:5854, NCIT:C35400]
xref: DOID:5854 {source="MONDO:equivalentTo"}
xref: NCIT:C35400 {source="DOID:5854", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:233843008 {source="DOID:5854", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0340324 {source="DOID:5854", source="MONDO:equivalentTo", source="NCIT:C35400"}
is_a: MONDO:0005068 {source="DOID:5854", source="NCIT:C35400", source="linkedlifedata"} ! myocardial infarction (disease)
property_value: closeMatch http://identifiers.org/snomedct/194796000
property_value: exactMatch DOID:5854
property_value: exactMatch http://identifiers.org/snomedct/233843008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340324
property_value: exactMatch NCIT:C35400

[Term]
id: MONDO:0003679
name: anteroseptal myocardial infarction
xref: DOID:5855 {source="MONDO:equivalentTo"}
xref: UMLS:C0262565 {source="MONDO:equivalentTo", source="DOID:5855"}
is_a: MONDO:0005068 {source="DOID:5855"} ! myocardial infarction (disease)
property_value: exactMatch DOID:5855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262565

[Term]
id: MONDO:0003680
name: periosteal chondrosarcoma
alt_id: MONDO:0003683
def: "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." [NCIT:C7357]
synonym: "chondrosarcoma (disease) of periosteum" EXACT []
synonym: "juxtacortical chondrosarcoma" EXACT [NCIT:C7357]
synonym: "juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [DOID:5866]
synonym: "periosteal chondrosarcoma" EXACT [DOID:5859, NCIT:C7357]
synonym: "periosteum chondrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5859 {source="MONDO:equivalentTo"}
xref: DOID:5866 {source="MONDO:equivalentTo"}
xref: ICDO:9221/3 {source="NCIT:C7357"}
xref: NCIT:C7357 {source="MONDO:equivalentTo", source="DOID:5866", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: UMLS:C0334549 {source="MONDO:equivalentTo", source="DOID:5866", source="NCIT:C7357"}
is_a: MONDO:0000515 ! bone chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C7357"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/26211003
property_value: exactMatch DOID:5859
property_value: exactMatch DOID:5866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334549
property_value: exactMatch NCIT:C7357

[Term]
id: MONDO:0003681
name: myxoid chondrosarcoma
def: "A chondrosarcoma characterized by the presence of myxoid changes." [NCIT:C4303]
synonym: "MYCHS" RELATED [ONCOTREE:MYCHS]
synonym: "myxoid chondrosarcoma" EXACT [NCIT:C4303]
xref: DOID:5861 {source="MONDO:equivalentTo"}
xref: ICDO:9231/3 {source="NCIT:C4303"}
xref: NCIT:C4303 {source="DOID:5861", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MYCHS {source="MONDO:equivalentTo"}
xref: UMLS:C0334551 {source="DOID:5861", source="MONDO:equivalentTo", source="NCIT:C4303"}
is_a: MONDO:0008977 {source="DOID:5861", source="MONDOLEX:0003681", source="NCIT:C4303", source="ONCOTREE:MYCHS"} ! chondrosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/189881008
property_value: closeMatch http://identifiers.org/snomedct/75622000
property_value: exactMatch DOID:5861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334551
property_value: exactMatch NCIT:C4303

[Term]
id: MONDO:0003682
name: localized chondrosarcoma
def: "A non-disseminated skeletal or extraskeletal chondrosarcoma." [NCIT:C8778]
synonym: "chondrosarcoma, localized" EXACT [NCIT:C8778]
synonym: "localized chondrosarcoma" EXACT [NCIT:C8778]
xref: DOID:5862 {source="MONDO:equivalentTo"}
xref: NCIT:C8778 {source="DOID:5862", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0855011 {source="DOID:5862", source="MONDO:equivalentTo", source="NCIT:C8778"}
is_a: MONDO:0008977 {source="DOID:5862", source="MONDOLEX:0003682", source="NCIT:C8778"} ! chondrosarcoma (disease)
property_value: exactMatch DOID:5862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855011
property_value: exactMatch NCIT:C8778

[Term]
id: MONDO:0003684
name: clear cell chondrosarcoma
def: "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." [NCIT:C6475]
synonym: "clear cell chondrosarcoma" EXACT [DOID:5867, NCIT:C6475]
synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [DOID:5867]
xref: DOID:5867 {source="MONDO:equivalentTo"}
xref: ICDO:9242/3 {source="NCIT:C6475"}
xref: NCIT:C6475 {source="DOID:5867", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266167 {source="NCIT:C6475", source="DOID:5867", source="MONDO:equivalentTo"}
is_a: MONDO:0000515 ! bone chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C6475"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/128775007
property_value: exactMatch DOID:5867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266167
property_value: exactMatch NCIT:C6475

[Term]
id: MONDO:0003685
name: retroperitoneal germ cell neoplasm
def: "A germ cell tumor that involves the retroperitoneal space." [MONDO:patterns/location]
synonym: "germ cell neoplasm of retroperitoneum" EXACT [NCIT:C6447]
synonym: "germ cell neoplasm of the retroperitoneum" EXACT [NCIT:C6447]
synonym: "germ cell tumor of retroperitoneum" EXACT [DOID:5874, NCIT:C6447]
synonym: "germ cell tumor of the retroperitoneum" EXACT [NCIT:C6447]
synonym: "retroperitoneal germ cell tumor" EXACT [NCIT:C6447]
xref: DOID:5874 {source="MONDO:equivalentTo"}
xref: NCIT:C6447 {source="DOID:5874", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335776 {source="DOID:5874", source="MONDO:equivalentTo", source="NCIT:C6447"}
is_a: MONDO:0005040 ! germ cell tumor
is_a: MONDO:0024645 ! retroperitoneal neoplasm
relationship: excluded_subClassOf MONDO:0005941 {source="DOID:5874"} ! retroperitoneal cancer
property_value: exactMatch DOID:5874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335776
property_value: exactMatch NCIT:C6447

[Term]
id: MONDO:0003686
name: apocrine sweat gland neoplasm
def: "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." [NCIT:P378]
synonym: "apocrine neoplasm" EXACT [NCIT:C6798]
synonym: "apocrine neoplasm of skin" EXACT [NCIT:C6798]
synonym: "apocrine neoplasm of the skin" EXACT [NCIT:C6798]
synonym: "apocrine skin neoplasm" EXACT [NCIT:C6798]
synonym: "apocrine skin tumor" EXACT [NCIT:C6798]
synonym: "apocrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "apocrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "apocrine tumor" EXACT [DOID:5876, NCIT:C6798]
synonym: "apocrine tumor of skin" EXACT [NCIT:C6798]
synonym: "apocrine tumor of the skin" EXACT [NCIT:C6798]
synonym: "neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5876 {source="MONDO:equivalentTo"}
xref: NCIT:C6798 {source="DOID:5876", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1332318 {source="DOID:5876", source="MONDO:equivalentTo"}
is_a: MONDO:0002381 {source="DOID:5876", source="MONDO:Redundant", source="NCIT:C6798"} ! sweat gland neoplasm
is_a: MONDO:0024467 ! apocrine sweat gland disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346028
property_value: exactMatch DOID:5876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332318
property_value: exactMatch NCIT:C6798

[Term]
id: MONDO:0003687
name: endocardium cancer
def: "A malignant neoplasm involving the endocardium." [MONDO:DesignPattern]
synonym: "cancer of endocardium" EXACT [MONDO:patterns/cancer]
synonym: "endocardium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endocardial neoplasm" EXACT [NCIT:C4570]
synonym: "malignant endocardial tumor" EXACT [DOID:5877, NCIT:C4570]
synonym: "malignant endocardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of endocardium" EXACT [DOID:5877, MONDO:patterns/cancer, MTHICD9_2006:164.1, NCIT:C4570]
synonym: "malignant neoplasm of the endocardium" EXACT [NCIT:C4570]
synonym: "malignant tumor of endocardium" EXACT [DOID:5877, NCIT:C4570]
synonym: "malignant tumor of the endocardium" EXACT [NCIT:C4570]
xref: DOID:5877 {source="MONDO:equivalentTo"}
xref: NCIT:C4570 {source="MONDO:equivalentTo", source="DOID:5877", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:363436001 {source="MONDO:equivalentTo", source="DOID:5877", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346612 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4570", source="MONDO:equivalentTo", source="DOID:5877"}
is_a: MONDO:0001340 {source="DOID:5877", source="MONDO:Redundant", source="NCIT:C4570"} ! heart cancer
is_a: MONDO:0021378 {source="MONDO:Redundant", source="NCIT:C4570", source="linkedlifedata"} ! neoplasm of endocardium
property_value: closeMatch http://identifiers.org/snomedct/93778001
property_value: exactMatch DOID:5877
property_value: exactMatch http://identifiers.org/snomedct/363436001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346612
property_value: exactMatch NCIT:C4570

[Term]
id: MONDO:0003688
name: well differentiated papillary mesothelioma
def: "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." [NCIT:P378]
synonym: "benign intermediate mesothelioma" RELATED [DOID:5884]
synonym: "benign/Intermediate mesothelioma" EXACT [NCIT:C7635]
synonym: "WDPM" EXACT [NCIT:C7635]
synonym: "well differentiated papillary mesothelioma" EXACT [NCIT:C7635]
synonym: "well-differentiated mesothelial papillary neoplasm" EXACT [NCIT:C7635]
synonym: "well-differentiated mesothelial papillary tumor" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary neoplasm of mesothelium" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary neoplasm of the mesothelium" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary tumor of mesothelium" EXACT [DOID:5884, NCIT:C7635]
synonym: "well-differentiated papillary tumor of the mesothelium" EXACT [NCIT:C7635]
xref: DOID:5884 {source="MONDO:equivalentTo"}
xref: ICDO:9052/1 {source="NCIT:C7635"}
xref: NCIT:C7635 {source="DOID:5884", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1337012 {source="DOID:5884", source="MONDO:equivalentTo", source="NCIT:C7635"}
is_a: MONDO:0005065 {source="NCIT:C7635"} ! mesothelioma
property_value: exactMatch DOID:5884
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337012
property_value: exactMatch NCIT:C7635

[Term]
id: MONDO:0003689
name: familial hemolytic anemia
def: "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." [NCIT:C34379]
subset: gard_rare {source="GARD:0006167"}
synonym: "anemia hemolytic congenital" RELATED [GARD:0006167]
synonym: "congenital hemolytic anemia" EXACT [NCIT:C34379]
synonym: "hereditary hemolytic anemia" EXACT [DOID:589, MONDO:patterns/hereditary, NCIT:C34379]
xref: COHD:28396 {source="MONDO:equivalentTo"}
xref: DOID:589 {source="MONDO:equivalentTo"}
xref: GARD:0006167 {source="MONDO:equivalentTo"}
xref: ICD10:D58.9 {source="DOID:589"}
xref: ICD9:282 {source="DOID:589"}
xref: ICD9:282.9 {source="DOID:589"}
xref: MESH:D000745 {source="DOID:589", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34379 {source="DOID:589", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:42601008 {source="DOID:589", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0003664 {source="DOID:589", source="MESH:D000745", source="MONDO:Redundant", source="NCIT:C34379", source="linkedlifedata"} ! hemolytic anemia
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0003664 ! hemolytic anemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/154794008
property_value: closeMatch http://identifiers.org/snomedct/154801000
property_value: closeMatch http://identifiers.org/snomedct/191208008
property_value: closeMatch http://identifiers.org/snomedct/267556002
property_value: closeMatch http://identifiers.org/snomedct/267558001
property_value: closeMatch http://identifiers.org/snomedct/38911009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002881
property_value: exactMatch DOID:589
property_value: exactMatch http://identifiers.org/mesh/D000745
property_value: exactMatch http://identifiers.org/snomedct/42601008
property_value: exactMatch NCIT:C34379
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia xsd:anyURI {source="GARD:0006167"}

[Term]
id: MONDO:0003690
name: adult anaplastic ependymoma
def: "An anaplastic ependymoma occurring in adults." [NCIT:C8269]
synonym: "adult anaplastic ependymoma" EXACT [NCIT:C8269]
synonym: "adult malignant ependymoma" EXACT [NCIT:C8269]
synonym: "anaplastic ependymoma" EXACT [NCIT:C8269]
synonym: "anaplastic ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "malignant adult ependymoma" EXACT [NCIT:C8269]
xref: DOID:5890 {source="MONDO:equivalentTo"}
xref: NCIT:C8269 {source="MONDO:equivalentTo", source="DOID:5890"}
xref: UMLS:C0280787 {source="NCIT:C8269", source="MONDO:equivalentTo", source="DOID:5890"}
is_a: MONDO:0016700 {source="MONDO:Redundant", source="MONDOLEX:0003690", source="NCIT:C8269"} ! anaplastic ependymoma
property_value: exactMatch DOID:5890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280787
property_value: exactMatch NCIT:C8269

[Term]
id: MONDO:0003691
name: childhood malignant mesenchymoma
def: "A malignant mesenchymoma occurring in children." [NCIT:C8097]
synonym: "childhood malignant mesenchymoma" EXACT [NCIT:C8097]
synonym: "malignant mesenchymoma" EXACT [NCIT:C8097]
synonym: "malignant mesenchymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric malignant mesenchymoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric malignant mesenchymoma" RELATED [MONDO:patterns/childhood]
xref: DOID:5893 {source="MONDO:equivalentTo"}
xref: NCIT:C8097 {source="DOID:5893", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0279991 {source="DOID:5893", source="MONDO:equivalentTo", source="NCIT:C8097"}
is_a: MONDO:0003633 {source="DOID:5893", source="MONDO:Redundant", source="MONDOLEX:0003691", source="NCIT:C8097"} ! malignant mesenchymoma
is_a: MONDO:0006517 ! childhood malignant neoplasm
property_value: exactMatch DOID:5893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279991
property_value: exactMatch NCIT:C8097

[Term]
id: MONDO:0003692
name: adult malignant mesenchymoma
def: "A malignant mesenchymoma occurring in adults." [NCIT:C7947]
synonym: "adult malignant mesenchymoma" EXACT [NCIT:C7947]
synonym: "malignant mesenchymoma" EXACT [NCIT:C7947]
synonym: "malignant mesenchymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5894 {source="MONDO:equivalentTo"}
xref: NCIT:C7947 {source="DOID:5894", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0279548 {source="DOID:5894", source="MONDO:equivalentTo", source="NCIT:C7947"}
is_a: MONDO:0003633 {source="DOID:5894", source="MONDO:Redundant", source="MONDOLEX:0003692", source="NCIT:C7947"} ! malignant mesenchymoma
property_value: exactMatch DOID:5894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279548
property_value: exactMatch NCIT:C7947

[Term]
id: MONDO:0003693
name: clear cell cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells." [NCIT:C8988]
synonym: "clear cell cystadenofibroma" EXACT [DOID:5895, NCIT:C8988]
xref: DOID:5895 {source="MONDO:equivalentTo"}
xref: NCIT:C8988 {source="DOID:5895", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1377853 {source="DOID:5895", source="MONDO:equivalentTo", source="NCIT:C8988"}
is_a: MONDO:0003460 {source="MONDO:Redundant", source="NCIT:C8988"} ! clear cell adenofibroma
is_a: MONDO:0003464 {source="DOID:5895", source="MONDO:Redundant", source="MONDOLEX:0003693", source="NCIT:C8988"} ! cystadenofibroma
intersection_of: MONDO:0003460 {source="NCIT:C8988"} ! clear cell adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C8988"} ! cystadenofibroma
property_value: closeMatch http://identifiers.org/snomedct/58161009
property_value: exactMatch DOID:5895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377853
property_value: exactMatch NCIT:C8988

[Term]
id: MONDO:0003694
name: ovarian clear cell cystadenofibroma
def: "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." [NCIT:C40086]
synonym: "clear cell cystadenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian clear cell cystadenofibroma" EXACT [NCIT:C40086]
synonym: "ovary clear cell cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:5896 {source="MONDO:equivalentTo"}
xref: NCIT:C40086 {source="DOID:5896", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518695 {source="DOID:5896", source="MONDO:equivalentTo", source="NCIT:C40086"}
is_a: MONDO:0003693 {source="MONDO:Redundant", source="MONDOLEX:0003694", source="NCIT:C40086"} ! clear cell cystadenofibroma
is_a: MONDO:0003695 {source="DOID:5896", source="MONDO:Redundant", source="NCIT:C40086"} ! ovarian clear cell adenofibroma
property_value: exactMatch DOID:5896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518695
property_value: exactMatch NCIT:C40086

[Term]
id: MONDO:0003695
name: ovarian clear cell adenofibroma
def: "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." [NCIT:C40085]
synonym: "clear cell adenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian clear cell adenofibroma" EXACT [NCIT:C40085]
synonym: "ovary clear cell adenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:5897 {source="MONDO:equivalentTo"}
xref: NCIT:C40085 {source="DOID:5897", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518694 {source="DOID:5897", source="MONDO:equivalentTo", source="NCIT:C40085"}
is_a: MONDO:0000646 {source="DOID:5897", source="MONDO:Redundant", source="NCIT:C40085/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0003460 {source="MONDO:Redundant", source="MONDOLEX:0003695", source="NCIT:C40085"} ! clear cell adenofibroma
property_value: exactMatch DOID:5897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518694
property_value: exactMatch NCIT:C40085

[Term]
id: MONDO:0003696
name: obsolete meningeal melanocytoma
is_obsolete: true
replaced_by: MONDO:0016746

[Term]
id: MONDO:0003697
name: non-invasive verrucous carcinoma of the penis
synonym: "non-invasive penile verrucous carcinoma" EXACT [DOID:5907, NCIT:C27791]
synonym: "non-invasive verrucous carcinoma of penis" EXACT [NCIT:C27791]
synonym: "non-invasive verrucous carcinoma of the penis" EXACT [NCIT:C27791]
synonym: "penis non-invasive verrucous carcinoma" RELATED [DOID:5907]
xref: DOID:5907 {source="MONDO:equivalentTo"}
xref: NCIT:C27791 {source="MONDO:equivalentTo", source="DOID:5907", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334984 {source="NCIT:C27791", source="MONDO:equivalentTo", source="DOID:5907"}
is_a: MONDO:0003698 {source="DOID:5907", source="MONDO:Redundant", source="MONDOLEX:0003697"} ! penis verrucous carcinoma
property_value: exactMatch DOID:5907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334984
property_value: exactMatch NCIT:C27791

[Term]
id: MONDO:0003698
name: penis verrucous carcinoma
def: "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present." [NCIT:C6982]
synonym: "penis verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous carcinoma of penis, verrucous type" EXACT [NCIT:C6982]
synonym: "squamous carcinoma of the penis, verrucous type" EXACT [NCIT:C6982]
synonym: "verrucous carcinoma of penis" EXACT [NCIT:C6982]
synonym: "verrucous carcinoma of the penis" EXACT [NCIT:C6982]
synonym: "verrucous penile carcinoma" EXACT [NCIT:C6982]
synonym: "verrucous penile squamous carcinoma" EXACT [NCIT:C6982]
synonym: "verrucous penile squamous cell carcinoma" RELATED [ONCOTREE:VPSCC]
synonym: "verrucous squamous carcinoma of penis" EXACT [DOID:5908, NCIT:C6982]
synonym: "verrucous squamous carcinoma of the penis" EXACT [NCIT:C6982]
xref: DOID:5908 {source="MONDO:equivalentTo"}
xref: NCIT:C6982 {source="MONDO:equivalentTo", source="DOID:5908"}
xref: ONCOTREE:VPSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336955 {source="NCIT:C6982", source="MONDO:equivalentTo", source="DOID:5908"}
is_a: MONDO:0004433 ! papillary carcinoma of the penis
is_a: MONDO:0006006 {source="DOID:5908", source="MONDO:Redundant", source="NCIT:C6982"} ! verrucous carcinoma
property_value: exactMatch DOID:5908
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336955
property_value: exactMatch NCIT:C6982

[Term]
id: MONDO:0003699
name: phobic disorder
def: "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." [NCIT:P378]
synonym: "phobia" EXACT [NCIT:C35420]
xref: COHD:4304010 {source="MONDO:equivalentTo"}
xref: DOID:591 {source="MONDO:equivalentTo"}
xref: EFO:1001908 {source="MONDO:equivalentTo"}
xref: ICD10:F40 {source="DOID:591"}
xref: ICD10:F40.9 {source="DOID:591"}
xref: ICD9:300.2 {source="DOID:591"}
xref: ICD9:300.20 {source="DOID:591"}
xref: MESH:D010698 {source="MONDO:equivalentTo", source="DOID:591"}
xref: NCIT:C35420 {source="MONDO:equivalentTo", source="DOID:591"}
xref: SCTID:386810004 {source="MONDO:equivalentTo", source="DOID:591", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005618 {source="DOID:591", source="EFO:1001908", source="MESH:D010698", source="NCIT:C35420", source="linkedlifedata"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/snomedct/154884005
property_value: closeMatch http://identifiers.org/snomedct/191720001
property_value: closeMatch http://identifiers.org/snomedct/191721002
property_value: closeMatch http://identifiers.org/snomedct/191734001
property_value: closeMatch http://identifiers.org/snomedct/192393009
property_value: closeMatch http://identifiers.org/snomedct/192398000
property_value: closeMatch http://identifiers.org/snomedct/268630000
property_value: closeMatch http://identifiers.org/snomedct/386808001
property_value: closeMatch http://identifiers.org/snomedct/52039009
property_value: closeMatch http://identifiers.org/snomedct/65673007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349231
property_value: exactMatch DOID:591
property_value: exactMatch http://identifiers.org/mesh/D010698
property_value: exactMatch http://identifiers.org/snomedct/386810004
property_value: exactMatch NCIT:C35420

[Term]
id: MONDO:0003700
name: brachial plexus neoplasm
def: "A neoplasm (disease) that involves the brachial nerve plexus." [MONDO:patterns/location]
synonym: "brachial nerve plexus neoplasm" EXACT []
synonym: "brachial nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brachial nerve plexus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "brachial plexus neoplasm" EXACT [NCIT:C5823]
synonym: "brachial plexus neoplasms" EXACT [NCIT:C5823]
synonym: "brachial plexus tumor" EXACT [NCIT:C5823]
synonym: "neoplasm of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of brachial plexus" EXACT [NCIT:C5823]
synonym: "neoplasm of the brachial plexus" EXACT [NCIT:C5823]
synonym: "tumor of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of brachial plexus" EXACT [NCIT:C5823]
synonym: "tumor of the brachial plexus" EXACT [DOID:5913, NCIT:C5823]
xref: DOID:5913 {source="MONDO:equivalentTo"}
xref: NCIT:C5823 {source="MONDO:equivalentTo", source="DOID:5913", source="exact-label-match"}
xref: UMLS:C1332602 {source="MONDO:equivalentTo", source="DOID:5913", source="NCIT:C5823"}
is_a: MONDO:0003100 {source="DOID:5913", source="MONDO:Redundant", source="NCIT:C5823"} ! nerve plexus neoplasm
is_a: MONDO:0006683 ! brachial plexus neuropathy
property_value: exactMatch DOID:5913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332602
property_value: exactMatch NCIT:C5823

[Term]
id: MONDO:0003701
name: thyroid gland diffuse sclerosing papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." [NCIT:C7427]
synonym: "nonencapsulated sclerosing adenocarcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing carcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing neoplasm" EXACT [DOID:5914, NCIT:C7427]
synonym: "nonencapsulated sclerosing papillary thyroid carcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing tumor" EXACT [NCIT:C7427]
synonym: "papillary carcinoma, diffuse sclerosing" EXACT [DOID:5914]
synonym: "thyroid gland diffuse sclerosing papillary carcinoma" EXACT [NCIT:C7427]
xref: DOID:5914 {source="MONDO:equivalentTo"}
xref: ICDO:8350/3 {source="NCIT:C7427"}
xref: NCIT:C7427 {source="MONDO:equivalentTo", source="DOID:5914"}
xref: UMLS:C0334330 {source="MONDO:equivalentTo", source="DOID:5914", source="NCIT:C7427"}
xref: UMLS:C1321862 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005075 {source="DOID:5914", source="NCIT:C7427"} ! thyroid gland papillary carcinoma
property_value: closeMatch http://identifiers.org/snomedct/62681000
property_value: exactMatch DOID:5914
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321862
property_value: exactMatch NCIT:C7427

[Term]
id: MONDO:0003702
name: uterus intravascular leiomyomatosis
def: "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma." [NCIT:C5356]
synonym: "intravascular leiomyomatosis of the uterus" EXACT [NCIT:C5356]
synonym: "intravascular leiomyomatosis of uterus" EXACT [DOID:5915, NCIT:C5356]
synonym: "intravenous leiomyomatosis of the uterus" EXACT [NCIT:C5356]
synonym: "intravenous leiomyomatosis of uterus" EXACT [NCIT:C5356]
synonym: "uterine corpus intravenous leiomyomatosis" EXACT [NCIT:C5356]
synonym: "uterus intravenous leiomyomatosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5915 {source="MONDO:equivalentTo"}
xref: NCIT:C5356 {source="MONDO:equivalentTo"}
is_a: MONDO:0000632 ! uterine benign neoplasm
is_a: MONDO:0003614 {source="MONDO:Redundant", source="MONDOLEX:0003702", source="NCIT:C5356"} ! intravenous leiomyomatosis
relationship: excluded_subClassOf MONDO:0003704 {source="DOID:5915"} ! uterine corpus diffuse leiomyomatosis
property_value: exactMatch DOID:5915
property_value: exactMatch NCIT:C5356

[Term]
id: MONDO:0003703
name: obsolete uterine corpus leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0003704

[Term]
id: MONDO:0003704
name: uterine corpus diffuse leiomyomatosis
def: "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." [NCIT:P378]
synonym: "body of uterus leiomyomatosis" EXACT [MONDO:patterns/location]
synonym: "leiomyomatosis of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus diffuse leiomyomatosis" EXACT [NCIT:C40170]
synonym: "uterine corpus leiomyomatosis" EXACT [MONDO:0003703]
xref: DOID:5916 {source="MONDO:obsoleteEquivalent"}
xref: DOID:5917 {source="MONDO:equivalentTo"}
xref: NCIT:C40170 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5916"}
xref: UMLS:C1519855 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40170", source="MONDO:equivalentTo", source="DOID:5916"}
is_a: MONDO:0007886 ! uterine corpus leiomyoma
is_a: MONDO:0023616 ! familial leiomyomatosis
property_value: exactMatch DOID:5916
property_value: exactMatch DOID:5917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519855
property_value: exactMatch NCIT:C40170

[Term]
id: MONDO:0003705
name: adult brainstem mixed glioma
synonym: "adult brain stem mixed glioma" EXACT [DOID:5921, NCIT:C9371]
synonym: "adult brainstem mixed glioma" EXACT [NCIT:C9371]
xref: DOID:5921 {source="MONDO:equivalentTo"}
xref: NCIT:C9371 {source="MONDO:equivalentTo", source="DOID:5921", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1377915 {source="MONDO:equivalentTo", source="DOID:5921", source="NCIT:C9371"}
is_a: MONDO:0003153 {source="DOID:5921", source="NCIT:C9371"} ! adult brainstem glioma
property_value: exactMatch DOID:5921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377915
property_value: exactMatch NCIT:C9371

[Term]
id: MONDO:0003706
name: adult brainstem astrocytoma
synonym: "adult brain stem astrocytoma" EXACT [NCIT:C6954]
synonym: "adult brainstem astrocytoma" EXACT [NCIT:C6954]
xref: DOID:5922 {source="MONDO:equivalentTo"}
xref: NCIT:C6954 {source="DOID:5922", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/19.11"}
xref: UMLS:C1332191 {source="DOID:5922", source="MONDO:equivalentTo", source="NCIT:C6954"}
is_a: MONDO:0003153 {source="DOID:5922", source="NCIT:C6954"} ! adult brainstem glioma
is_a: MONDO:0003173 {source="NCIT:C6954"} ! brain stem astrocytic neoplasm
property_value: exactMatch DOID:5922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332191
property_value: exactMatch NCIT:C6954

[Term]
id: MONDO:0003707
name: distal biliary tract carcinoma
def: "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." [NCIT:P378]
synonym: "carcinoma of distal biliary tract" EXACT [NCIT:C7109]
synonym: "carcinoma of the distal biliary tract" EXACT [DOID:5923, NCIT:C7109]
synonym: "distal bile duct cancer" EXACT [NCIT:C7109]
synonym: "distal bile duct carcinoma" EXACT [NCIT:C7109]
synonym: "distal biliary tract carcinoma" EXACT [NCIT:C7109]
synonym: "extrahepatic (distal) bile duct cancer" EXACT [NCIT:C7109]
xref: DOID:5923 {source="MONDO:equivalentTo"}
xref: NCIT:C7109 {source="MONDO:equivalentTo", source="DOID:5923", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333308 {source="MONDO:equivalentTo", source="DOID:5923", source="NCIT:C7109"}
is_a: MONDO:0003090 {source="NCIT:C7109"} ! extrahepatic bile duct carcinoma
property_value: exactMatch DOID:5923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333308
property_value: exactMatch NCIT:C7109

[Term]
id: MONDO:0003708
name: extrahepatic bile duct small cell adenocarcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells." [NCIT:P378]
synonym: "extrahepatic bile duct small cell NEC" EXACT [NCIT:C5845]
synonym: "extrahepatic bile duct small cell neuroendocrine carcinoma" EXACT [NCIT:C5845]
synonym: "Oat cell carcinoma of extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "Oat cell carcinoma of the extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "Oat cell extrahepatic bile duct carcinoma" EXACT [DOID:5926, NCIT:C5845]
synonym: "small cell adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "small cell adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "small cell extrahepatic bile duct carcinoma" EXACT [NCIT:C5845]
synonym: "small cell extrahepatic bile duct neuroendocrine carcinoma" EXACT [NCIT:C5845]
xref: DOID:5926 {source="MONDO:equivalentTo"}
xref: NCIT:C5845 {source="MONDO:equivalentTo", source="DOID:5926", source="MONDO:kboom-pr-1.00/0.91/28.76"}
xref: UMLS:C1335979 {source="MONDO:equivalentTo", source="DOID:5926", source="NCIT:C5845"}
is_a: MONDO:0000402 {source="MONDOLEX:0003708", source="NCIT:C5845"} ! small cell carcinoma
is_a: MONDO:0002665 {source="DOID:5926", source="MONDOLEX:0003708"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0015072 ! liver neuroendocrine carcinoma
property_value: exactMatch DOID:5926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335979
property_value: exactMatch NCIT:C5845

[Term]
id: MONDO:0003709
name: agoraphobia
def: "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." [NCIT:P378]
synonym: "fear of open spaces" EXACT [DOID:593]
synonym: "fear of open spaces (finding)" EXACT [DOID:593]
xref: DOID:593 {source="MONDO:equivalentTo"}
xref: EFO:1001872 {source="MONDO:equivalentTo"}
xref: ICD10:F40.0 {source="MONDO:equivalentTo", source="DOID:593"}
xref: ICD10:F40.00 {source="DOID:593"}
xref: MESH:D000379 {source="MONDO:equivalentTo", source="DOID:593", source="MONDO:ontobio"}
xref: NCIT:C34362 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:593"}
xref: SCTID:70691001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:593"}
is_a: MONDO:0003699 {source="DOID:593", source="EFO:1001872", source="NCIT:C34362", source="linkedlifedata"} ! phobic disorder
property_value: closeMatch http://identifiers.org/snomedct/154885006
property_value: closeMatch http://identifiers.org/snomedct/192394003
property_value: closeMatch http://identifiers.org/snomedct/247830007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001818
property_value: exactMatch DOID:593
property_value: exactMatch http://identifiers.org/mesh/D000379
property_value: exactMatch http://identifiers.org/snomedct/70691001
property_value: exactMatch NCIT:C34362

[Term]
id: MONDO:0003710
name: ovarian mixed germ cell neoplasm
def: "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor." [NCIT:P378]
synonym: "mixed germ cell neoplasm of ovary" EXACT [NCIT:C8114]
synonym: "mixed germ cell neoplasm of the ovary" EXACT [NCIT:C8114]
synonym: "mixed germ cell tumor" RELATED [ONCOTREE:OMGCT]
synonym: "mixed germ cell tumor of ovary" EXACT [DOID:5936, NCIT:C8114]
synonym: "mixed germ cell tumor of the ovary" EXACT [NCIT:C8114]
synonym: "ovarian mixed germ cell neoplasm" EXACT [NCIT:C8114]
synonym: "ovarian mixed germ cell tumor" EXACT [NCIT:C8114]
synonym: "ovary mixed germ cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5936 {source="MONDO:equivalentTo"}
xref: NCIT:C8114 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5936", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:OMGCT {source="MONDO:equivalentTo"}
xref: UMLS:C0280135 {source="NCIT:C8114", source="MONDO:equivalentTo", source="DOID:5936"}
is_a: MONDO:0003408 {source="DOID:5936", source="MONDO:Redundant", source="NCIT:C8114"} ! ovarian primitive germ cell tumor
is_a: MONDO:0015864 {source="DOID:5936", source="MONDO:Redundant", source="MONDOLEX:0003710", source="NCIT:C8114"} ! mixed germ cell tumor
property_value: exactMatch DOID:5936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280135
property_value: exactMatch NCIT:C8114

[Term]
id: MONDO:0003711
name: obsolete malignant peripheral nerve sheath tumor
is_obsolete: true
replaced_by: MONDO:0017827

[Term]
id: MONDO:0003712
name: angiokeratoma of mibelli
xref: DOID:5948 {source="MONDO:equivalentTo"}
xref: NCIT:C3927 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5948"}
xref: SCTID:62727008 {source="MONDO:equivalentTo", source="DOID:5948", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0263640 {source="NCIT:C3927", source="MONDO:equivalentTo", source="DOID:5948"}
is_a: MONDO:0003143 {source="DOID:5948", source="NCIT:C3927", source="linkedlifedata"} ! angiokeratoma
property_value: exactMatch DOID:5948
property_value: exactMatch http://identifiers.org/snomedct/62727008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263640
property_value: exactMatch NCIT:C3927

[Term]
id: MONDO:0003713
name: angiokeratoma circumscriptum
xref: DOID:5949 {source="MONDO:equivalentTo"}
xref: NCIT:C7751 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:5949"}
xref: SCTID:21848000 {source="MONDO:equivalentTo", source="DOID:5949", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0263638 {source="NCIT:C7751", source="MONDO:equivalentTo", source="DOID:5949"}
is_a: MONDO:0003143 {source="NCIT:C7751", source="linkedlifedata"} ! angiokeratoma
property_value: exactMatch DOID:5949
property_value: exactMatch http://identifiers.org/snomedct/21848000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263638
property_value: exactMatch NCIT:C7751

[Term]
id: MONDO:0003714
name: bladder urachal squamous cell carcinoma
synonym: "bladder urachal squamous cell carcinoma" EXACT [NCIT:C39845]
xref: DOID:5957 {source="MONDO:equivalentTo"}
xref: NCIT:C39845 {source="MONDO:equivalentTo", source="DOID:5957", source="exact-label-match"}
xref: UMLS:C1511206 {source="MONDO:equivalentTo", source="DOID:5957", source="NCIT:C39845"}
is_a: MONDO:0002760 {source="MONDO:Redundant", source="NCIT:C39845", source="OWLReasoner:2017"} ! bladder squamous cell carcinoma
is_a: MONDO:0003715 {source="DOID:5957", source="MONDO:Redundant", source="NCIT:C39845"} ! bladder urachal carcinoma
property_value: exactMatch DOID:5957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511206
property_value: exactMatch NCIT:C39845

[Term]
id: MONDO:0003715
name: bladder urachal carcinoma
def: "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma , rhabdomyosarcoma , and malignant fibrous histiocytoma ), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria , and bacteriuria . Treatment usually involved surgery to remove the cancer." [GARD:0007836]
subset: gard_rare
synonym: "bladder urachal cancer" EXACT [NCIT:C39842]
synonym: "bladder urachal carcinoma" EXACT [NCIT:C39842]
synonym: "urachal carcinoma" RELATED [GARD:0007836, ONCOTREE:URCA]
xref: DOID:5958 {source="MONDO:equivalentTo"}
xref: GARD:0007836 {source="MONDO:equivalentTo"}
xref: MESH:C536475 {source="MONDO:equivalentTo"}
xref: NCIT:C39842 {source="MONDO:equivalentTo", source="DOID:5958", source="exact-label-match"}
xref: ONCOTREE:URCA {source="MONDO:equivalentTo"}
xref: UMLS:C1511205 {source="MONDO:equivalentTo", source="NCIT:C39842", source="DOID:5958"}
is_a: MONDO:0004986 {source="DOID:5958", source="MONDO:Redundant", source="NCIT:C39842"} ! urinary bladder carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931202
property_value: exactMatch DOID:5958
property_value: exactMatch http://identifiers.org/mesh/C536475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511205
property_value: exactMatch NCIT:C39842

[Term]
id: MONDO:0003716
name: renal pelvis papillary urothelial carcinoma
def: "A papillary transitional cell carcinoma that arises from the renal pelvis." [NCIT:C6148, NCIT:P378]
synonym: "kidney pelvis papillary carcinoma" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of kidney pelvis" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of renal pelvis" EXACT [DOID:5973, NCIT:C6148]
synonym: "papillary carcinoma of the kidney pelvis" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of the renal pelvis" EXACT [NCIT:C6148]
synonym: "renal pelvis papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "renal pelvis papillary urothelial carcinoma" EXACT [NCIT:C6148]
xref: DOID:5973 {source="MONDO:equivalentTo"}
xref: NCIT:C6148 {source="DOID:5973", source="MONDO:equivalentTo"}
xref: UMLS:C1377909 {source="DOID:5973", source="MONDO:equivalentTo", source="NCIT:C6148"}
is_a: MONDO:0003717 {source="NCIT:C6148"} ! renal pelvis papillary tumor
is_a: MONDO:0005221 {source="DOID:5973", source="MONDO:Redundant", source="NCIT:C6148"} ! renal pelvis urothelial carcinoma
is_a: MONDO:0006350 {source="MONDO:Redundant", source="NCIT:C6148"} ! papillary transitional cell carcinoma
property_value: exactMatch DOID:5973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377909
property_value: exactMatch NCIT:C6148

[Term]
id: MONDO:0003717
name: renal pelvis papillary tumor
def: "A papillary tumor originating in the renal pelvis." [NCIT:P378]
synonym: "papillary neoplasm of renal pelvis" EXACT [DOID:5975, NCIT:C8603]
synonym: "papillary neoplasm of the renal pelvis" EXACT [NCIT:C8603]
synonym: "papillary tumor of renal pelvis" EXACT [NCIT:C8603]
synonym: "papillary tumor of the renal pelvis" EXACT [NCIT:C8603]
synonym: "renal pelvis papillary tumor" EXACT [NCIT:C8603]
synonym: "renal pelvis papillary urothelial neoplasm" EXACT [NCIT:C8603]
xref: DOID:5975 {source="MONDO:equivalentTo"}
xref: NCIT:C8603 {source="DOID:5975", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0853688 {source="DOID:5975", source="MONDO:equivalentTo", source="NCIT:C8603"}
is_a: MONDO:0003443 {source="MONDOLEX:0003717", source="NCIT:C8603"} ! papillary urothelial neoplasm
is_a: MONDO:0003719 {source="DOID:5975", source="MONDOLEX:0003717", source="NCIT:C8603"} ! renal pelvis neoplasm
property_value: exactMatch DOID:5975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853688
property_value: exactMatch NCIT:C8603

[Term]
id: MONDO:0003718
name: occlusion precerebral artery
synonym: "occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [DOID:5976]
synonym: "occlusion and stenosis of precerebral artery" RELATED [DOID:5976]
xref: DOID:5976 {source="MONDO:equivalentTo"}
xref: ICD10:I65.9 {source="DOID:5976"}
xref: ICD9:433 {source="DOID:5976"}
xref: ICD9:433.3 {source="DOID:5976"}
xref: ICD9:433.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:433.9 {source="DOID:5976"}
xref: SCTID:28790007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0265090 {source="MONDO:equivalentTo"}
is_a: MONDO:0011057 {source="DOID:5976", source="linkedlifedata"} ! cerebrovascular disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155725
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155727
property_value: exactMatch DOID:5976
property_value: exactMatch http://identifiers.org/snomedct/28790007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265090

[Term]
id: MONDO:0003719
name: renal pelvis neoplasm
def: "A neoplasm (disease) that involves the renal pelvis." [MONDO:patterns/location]
synonym: "kidney pelvis neoplasm" EXACT [NCIT:C8404]
synonym: "kidney pelvis tumor" EXACT [NCIT:C8404]
synonym: "neoplasm of kidney pelvis" EXACT [NCIT:C8404]
synonym: "neoplasm of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "neoplasm of the kidney pelvis" EXACT [NCIT:C8404]
synonym: "neoplasm of the renal pelvis" EXACT [NCIT:C8404]
synonym: "renal pelvis neoplasm" EXACT [NCIT:C8404]
synonym: "renal pelvis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "renal pelvis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "tumor of kidney pelvis" EXACT [DOID:5977, NCIT:C8404]
synonym: "tumor of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "tumor of the kidney pelvis" EXACT [NCIT:C8404]
synonym: "tumor of the renal pelvis" EXACT [NCIT:C8404]
xref: DOID:5977 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8404 {source="DOID:5977", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:126881002 {source="DOID:5977", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346260 {source="DOID:5977", source="MONDO:equivalentTo", source="NCIT:C8404"}
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C8404", source="linkedlifedata"} ! kidney neoplasm
property_value: closeMatch http://identifiers.org/snomedct/254926009
property_value: exactMatch DOID:5977
property_value: exactMatch http://identifiers.org/snomedct/126881002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346260
property_value: exactMatch NCIT:C8404

[Term]
id: MONDO:0003720
name: kidney fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C7726]
synonym: "fibrosarcoma of kidney" EXACT [NCIT:C7726]
synonym: "fibrosarcoma of the kidney" EXACT [DOID:5982, NCIT:C7726]
synonym: "kidney fibrosarcoma" EXACT [NCIT:C7726]
synonym: "kidney fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "renal fibrosarcoma" EXACT [NCIT:C7726]
xref: DOID:5982 {source="MONDO:equivalentTo"}
xref: NCIT:C7726 {source="DOID:5982", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0238208 {source="DOID:5982", source="MONDO:equivalentTo", source="NCIT:C7726"}
is_a: MONDO:0002930 {source="DOID:5982", source="MONDO:Redundant", source="NCIT:C7726"} ! kidney sarcoma
is_a: MONDO:0005164 {source="DOID:5982", source="MONDO:Redundant", source="MONDOLEX:0003720", source="NCIT:C7726/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:5982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238208
property_value: exactMatch NCIT:C7726

[Term]
id: MONDO:0003721
name: kidney osteogenic sarcoma
def: "An osteosarcoma arising from the kidney." [NCIT:P378]
synonym: "kidney extraskeletal osteosarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteogenic sarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteosarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of kidney" EXACT [NCIT:C6181]
synonym: "osteogenic sarcoma of the kidney" EXACT [NCIT:C6181]
synonym: "osteosarcoma of kidney" EXACT [NCIT:C6181]
synonym: "osteosarcoma of the kidney" EXACT [NCIT:C6181]
synonym: "renal extraskeletal osteosarcoma" EXACT [NCIT:C6181]
synonym: "renal osteogenic sarcoma" EXACT [DOID:5983, NCIT:C6181]
synonym: "renal osteosarcoma" EXACT [NCIT:C6181]
xref: DOID:5983 {source="MONDO:equivalentTo"}
xref: NCIT:C6181 {source="DOID:5983", source="MONDO:equivalentTo"}
xref: UMLS:C1335747 {source="DOID:5983", source="MONDO:equivalentTo", source="NCIT:C6181"}
is_a: MONDO:0002621 {source="MONDOLEX:0003721", source="NCIT:C6181"} ! extraosseous osteosarcoma
is_a: MONDO:0002930 {source="DOID:5983", source="MONDO:Redundant", source="NCIT:C6181"} ! kidney sarcoma
property_value: exactMatch DOID:5983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335747
property_value: exactMatch NCIT:C6181

[Term]
id: MONDO:0003722
name: internal auditory canal meningioma
def: "A meningioma that affects the internal auditory canal." [NCIT:P378]
synonym: "internal acoustic meatus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of internal acoustic meatus" EXACT []
synonym: "meningioma of internal auditory canal" EXACT [NCIT:C5307]
synonym: "meningioma of the internal auditory canal" EXACT [DOID:5990, NCIT:C5307]
xref: DOID:5990 {source="MONDO:equivalentTo"}
xref: NCIT:C5307 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5990"}
xref: UMLS:C1334227 {source="MONDO:equivalentTo", source="NCIT:C5307", source="DOID:5990"}
is_a: MONDO:0003121 {source="NCIT:C5307"} ! middle cranial fossa meningioma
is_a: MONDO:0024320 ! inner ear neoplasm
relationship: excluded_subClassOf MONDO:0002998 {source="NCIT:C5307"} ! skull base meningioma
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:5990"} ! auditory system cancer
property_value: exactMatch DOID:5990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334227
property_value: exactMatch NCIT:C5307

[Term]
id: MONDO:0003723
name: blunt duct adenosis of breast
def: "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." [NCIT:P378]
synonym: "blunt duct adenosis of the breast" EXACT [NCIT:C6941]
synonym: "breast blunt duct adenosis" EXACT [NCIT:C6941]
xref: DOID:5996 {source="MONDO:equivalentTo"}
xref: NCIT:C6941 {source="DOID:5996", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332573 {source="DOID:5996", source="MONDO:equivalentTo", source="NCIT:C6941"}
is_a: MONDO:0003724 {source="NCIT:C6941"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0003725 {source="DOID:5996", source="NCIT:C6941"} ! breast adenosis
property_value: exactMatch DOID:5996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332573
property_value: exactMatch NCIT:C6941

[Term]
id: MONDO:0003724
name: non-proliferative fibrocystic change of the breast
def: "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." [NCIT:P378]
synonym: "breast fibrocystic change, non-proliferative type" EXACT [NCIT:C6943]
synonym: "non-proliferative fibrocystic change" EXACT [DOID:5997, NCIT:C6943]
synonym: "non-proliferative fibrocystic change of breast" EXACT [NCIT:C6943]
xref: DOID:5997 {source="MONDO:equivalentTo"}
xref: NCIT:C6943 {source="DOID:5997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332628 {source="DOID:5997", source="MONDO:equivalentTo", source="NCIT:C6943"}
is_a: MONDO:0005219 {source="DOID:5997", source="NCIT:C6943"} ! breast fibrocystic disease
property_value: exactMatch DOID:5997
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332628
property_value: exactMatch NCIT:C6943

[Term]
id: MONDO:0003725
name: breast adenosis
def: "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." [NCIT:C3484]
synonym: "adenosis" EXACT [NCIT:C3484]
synonym: "adenosis - breast" EXACT [DOID:5998]
synonym: "adenosis of breast" EXACT [NCIT:C3484]
synonym: "adenosis of the breast" EXACT [DOID:5998, NCIT:C3484]
synonym: "breast adenosis" EXACT [NCIT:C3484]
synonym: "microglandular adenosis" RELATED [DOID:5998]
xref: DOID:5998 {source="MONDO:equivalentTo"}
xref: EFO:0006891 {source="MONDO:equivalentTo"}
xref: NCIT:C3484 {source="MONDO:equivalentTo", source="DOID:5998"}
xref: UMLS:C0085750 {source="NCIT:C3484", source="MONDO:equivalentTo", source="DOID:5998"}
is_a: MONDO:0002657 {source="DOID:5998", source="NCIT:C3484/inferred"} ! breast disease
disjoint_from: MONDO:0005070 ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/270893004
property_value: exactMatch DOID:5998
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085750
property_value: exactMatch NCIT:C3484

[Term]
id: MONDO:0003726
name: apocrine adenosis of breast
def: "Breast adenosis characterized by the presence of extensive apocrine metaplasia." [NCIT:C5198]
synonym: "apocrine adenosis of breast" EXACT [NCIT:C5198]
synonym: "apocrine adenosis of the breast" EXACT [DOID:5999, NCIT:C5198]
synonym: "breast apocrine adenosis" EXACT [NCIT:C5198]
xref: DOID:5999 {source="MONDO:equivalentTo"}
xref: NCIT:C5198 {source="DOID:5999", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332314 {source="NCIT:C5198", source="DOID:5999", source="MONDO:equivalentTo"}
is_a: MONDO:0003724 {source="DOID:5999", source="NCIT:C5198"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0003725 {source="NCIT:C5198"} ! breast adenosis
property_value: exactMatch DOID:5999
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332314
property_value: exactMatch NCIT:C5198

[Term]
id: MONDO:0003727
name: animal phobia
def: "An overwhelming, irrational, and persistent fear of animals." [NCIT:P378]
synonym: "fear of animals" EXACT [DOID:600]
synonym: "fear of animals (finding)" EXACT [DOID:600]
synonym: "zoophobia" EXACT [DOID:600]
synonym: "zoophobia (finding)" EXACT [DOID:600]
xref: DOID:600 {source="MONDO:equivalentTo"}
xref: EFO:1001876 {source="MONDO:equivalentTo"}
xref: NCIT:C35273 {source="DOID:600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
is_a: MONDO:0012000 {source="DOID:600", source="EFO:1001876", source="NCIT:C35273"} ! specific phobia
property_value: closeMatch http://identifiers.org/snomedct/192396001
property_value: closeMatch http://identifiers.org/snomedct/54307006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0233711
property_value: exactMatch DOID:600
property_value: exactMatch NCIT:C35273

[Term]
id: MONDO:0003728
name: breast fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5185]
synonym: "breast fibrosarcoma" EXACT [NCIT:C5185]
synonym: "breast fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "fibrosarcoma of breast" EXACT [NCIT:C5185]
synonym: "fibrosarcoma of the breast" EXACT [DOID:6001, NCIT:C5185]
xref: DOID:6001 {source="MONDO:equivalentTo"}
xref: NCIT:C5185 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6001"}
xref: UMLS:C1332630 {source="NCIT:C5185", source="MONDO:equivalentTo", source="DOID:6001"}
is_a: MONDO:0002490 {source="DOID:6001", source="MONDO:Redundant", source="NCIT:C5185"} ! breast sarcoma
is_a: MONDO:0005164 {source="DOID:6001", source="MONDO:Redundant", source="MONDOLEX:0003728", source="NCIT:C5185/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:6001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332630
property_value: exactMatch NCIT:C5185

[Term]
id: MONDO:0003729
name: aleukemic leukemia cutis
def: "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." [NCIT:C4983]
synonym: "aleukemic leukemia cutis" EXACT [NCIT:C4983]
synonym: "leukemia subleukemic" RELATED [GARD:0006892]
xref: DOID:6003 {source="MONDO:equivalentTo"}
xref: GARD:0006892 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C4983 {source="DOID:6003", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0887846 {source="DOID:6003", source="MONDO:equivalentTo", source="NCIT:C4983"}
is_a: MONDO:0003730 {source="DOID:6003", source="MONDOLEX:0003729", source="NCIT:C4983"} ! aleukemic leukemia
property_value: exactMatch DOID:6003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0887846
property_value: exactMatch NCIT:C4983

[Term]
id: MONDO:0003730
name: aleukemic leukemia
alt_id: MONDO:0001605
def: "A leukemia characterized by the absence of leukemic cells in the peripheral blood." [NCIT:C4982]
synonym: "aleukemic leukemia" EXACT [NCIT:C4982]
synonym: "aleukemic myelosis" RELATED [DOID:6004]
synonym: "subleukemic leukemia" RELATED [DOID:12965]
xref: COHD:4121332 {source="MONDO:equivalentTo"}
xref: DOID:12965 {source="MONDO:equivalentTo"}
xref: DOID:6004 {source="MONDO:equivalentTo"}
xref: ICD9:208.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4982 {source="DOID:6004", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:302856006 {source="DOID:6004", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0877858 {source="DOID:6004", source="MONDO:equivalentTo", source="NCIT:C4982"}
is_a: MONDO:0005059 {source="DOID:12965", source="DOID:6004", source="NCIT:C4982", source="linkedlifedata"} ! leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/112688008
property_value: closeMatch http://identifiers.org/snomedct/154602005
property_value: closeMatch http://identifiers.org/snomedct/190028007
property_value: closeMatch http://identifiers.org/snomedct/269633006
property_value: exactMatch DOID:12965
property_value: exactMatch DOID:6004
property_value: exactMatch http://identifiers.org/snomedct/302856006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877858
property_value: exactMatch NCIT:C4982

[Term]
id: MONDO:0003731
name: adult central nervous system teratoma
def: "A mature or immature teratoma affecting the central nervous system and occurring in adults." [NCIT:C5794]
synonym: "adult central nervous system teratoma" EXACT [NCIT:C5794]
synonym: "adult CNS teratoma" EXACT [NCIT:C5794]
synonym: "Central nervous system teratoma" EXACT [NCIT:C5794]
synonym: "central nervous system teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "teratoma of adult central nervous system" EXACT [NCIT:C5794]
synonym: "teratoma of adult CNS" EXACT [NCIT:C5794]
synonym: "teratoma of the adult central nervous system" EXACT [DOID:6015, NCIT:C5794]
synonym: "teratoma of the adult CNS" EXACT [NCIT:C5794]
xref: DOID:6015 {source="MONDO:equivalentTo"}
xref: NCIT:C5794 {source="DOID:6015", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370506 {source="DOID:6015", source="NCIT:C5794", source="MONDO:equivalentTo"}
is_a: MONDO:0002718 {source="DOID:6015", source="MONDO:Redundant", source="MONDOLEX:0003731", source="NCIT:C5794"} ! central nervous system teratoma
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5794"} ! adult central nervous system germ cell tumor
is_a: MONDO:0003516 {source="MONDO:Redundant", source="MONDOLEX:0003731", source="NCIT:C5794"} ! adult teratoma
property_value: exactMatch DOID:6015
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370506
property_value: exactMatch NCIT:C5794

[Term]
id: MONDO:0003732
name: adult central nervous system mature teratoma
def: "A central nervous system mature teratoma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult central nervous system mature teratoma" EXACT [NCIT:C27400]
synonym: "central nervous system mature teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6016 {source="MONDO:equivalentTo"}
xref: NCIT:C27400 {source="DOID:6016", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332194 {source="DOID:6016", source="NCIT:C27400", source="MONDO:equivalentTo"}
is_a: MONDO:0003731 {source="DOID:6016", source="MONDO:Redundant", source="NCIT:C27400"} ! adult central nervous system teratoma
is_a: MONDO:0003733 {source="MONDO:Redundant", source="MONDOLEX:0003732", source="NCIT:C27400"} ! central nervous system mature teratoma
property_value: exactMatch DOID:6016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332194
property_value: exactMatch NCIT:C27400

[Term]
id: MONDO:0003733
name: central nervous system mature teratoma
def: "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)" [NCIT:C7013]
synonym: "central nervous system mature teratoma" EXACT [MONDO:patterns/location, NCIT:C7013]
synonym: "CNS mature teratoma" EXACT [NCIT:C7013]
synonym: "mature teratoma" RELATED [ONCOTREE:BMT]
synonym: "mature teratoma of central nervous system" EXACT [NCIT:C7013]
synonym: "mature teratoma of CNS" EXACT [NCIT:C7013]
synonym: "mature teratoma of the central nervous system" EXACT [NCIT:C7013]
synonym: "mature teratoma of the CNS" EXACT [DOID:6017, NCIT:C7013]
xref: DOID:6017 {source="MONDO:equivalentTo"}
xref: NCIT:C7013 {source="DOID:6017", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:BMT {source="MONDO:equivalentTo"}
xref: UMLS:C1332886 {source="DOID:6017", source="NCIT:C7013", source="MONDO:equivalentTo"}
is_a: MONDO:0002718 {source="DOID:6017", source="MONDO:Redundant", source="MONDOLEX:0003733", source="NCIT:C7013"} ! central nervous system teratoma
is_a: MONDO:0003517 {source="DOID:6017", source="MONDO:Redundant", source="MONDOLEX:0003733", source="NCIT:C7013"} ! mature teratoma
property_value: exactMatch DOID:6017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332886
property_value: exactMatch NCIT:C7013

[Term]
id: MONDO:0003734
name: adult central nervous system immature teratoma
synonym: "adult central nervous system immature teratoma" EXACT [NCIT:C27401]
xref: DOID:6018 {source="MONDO:equivalentTo"}
xref: NCIT:C27401 {source="DOID:6018", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332193 {source="DOID:6018", source="MONDO:equivalentTo", source="NCIT:C27401"}
is_a: MONDO:0003731 {source="DOID:6018", source="MONDO:Redundant", source="NCIT:C27401"} ! adult central nervous system teratoma
is_a: MONDO:0003735 {source="MONDO:Redundant", source="MONDOLEX:0003734", source="NCIT:C27401"} ! central nervous system immature teratoma
intersection_of: MONDO:0003731 {source="NCIT:C27401"} ! adult central nervous system teratoma
intersection_of: MONDO:0003735 {source="NCIT:C27401"} ! central nervous system immature teratoma
property_value: exactMatch DOID:6018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332193
property_value: exactMatch NCIT:C27401

[Term]
id: MONDO:0003735
name: central nervous system immature teratoma
def: "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" [NCIT:C7014]
synonym: "central nervous system immature teratoma" EXACT [NCIT:C7014]
synonym: "CNS immature teratoma" EXACT [NCIT:C7014]
synonym: "immature teratoma" RELATED [ONCOTREE:BIMT]
synonym: "immature teratoma of central nervous system" EXACT [NCIT:C7014]
synonym: "immature teratoma of CNS" EXACT [NCIT:C7014]
synonym: "immature teratoma of the central nervous system" EXACT [NCIT:C7014]
synonym: "immature teratoma of the CNS" EXACT [DOID:6019, NCIT:C7014]
xref: DOID:6019 {source="MONDO:equivalentTo"}
xref: NCIT:C7014 {source="DOID:6019", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:BIMT {source="MONDO:equivalentTo"}
xref: UMLS:C1332883 {source="DOID:6019", source="NCIT:C7014", source="MONDO:equivalentTo"}
is_a: MONDO:0002718 {source="DOID:6019", source="MONDOLEX:0003735", source="NCIT:C7014"} ! central nervous system teratoma
property_value: exactMatch DOID:6019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332883
property_value: exactMatch NCIT:C7014

[Term]
id: MONDO:0003736
name: cancerophobia
def: "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." [NCIT:P378]
synonym: "cancer phobia" EXACT [DOID:602]
synonym: "Cancerphobia" EXACT [NCIT:C35492]
synonym: "fear of getting cancer" EXACT [DOID:602]
synonym: "fear of getting cancer (finding)" EXACT [DOID:602]
xref: DOID:602 {source="MONDO:equivalentTo"}
xref: EFO:1001879 {source="MONDO:equivalentTo"}
xref: NCIT:C35492 {source="DOID:602", source="MONDO:equivalentTo"}
is_a: MONDO:0000600 {source="DOID:602", source="EFO:1001879"} ! nosophobia
property_value: closeMatch http://identifiers.org/snomedct/191730005
property_value: closeMatch http://identifiers.org/snomedct/300930008
property_value: closeMatch http://identifiers.org/snomedct/34563004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0233705
property_value: exactMatch DOID:602
property_value: exactMatch NCIT:C35492

[Term]
id: MONDO:0003737
name: malignant testicular Leydig cell tumor
def: "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor." [NCIT:P378]
synonym: "testicular Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:6021 {source="MONDO:equivalentTo"}
xref: NCIT:C39942 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6021"}
xref: UMLS:C1515288 {source="MONDO:equivalentTo", source="NCIT:C39942", source="DOID:6021"}
is_a: MONDO:0000377 {source="DOID:6021", source="MONDO:Redundant", source="MONDOLEX:0003737", source="NCIT:C39942"} ! malignant Leydig cell tumor
is_a: MONDO:0003124 {source="MONDO:Redundant", source="MONDOLEX:0003737", source="NCIT:C39942", source="OWLReasoner:2017"} ! testicular Leydig cell tumor
is_a: MONDO:0005447 ! testicular cancer
property_value: exactMatch DOID:6021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515288
property_value: exactMatch NCIT:C39942

[Term]
id: MONDO:0003738
name: selective IgE deficiency disease
def: "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases." [NCIT:P378]
synonym: "selective IgE immunodeficiency" EXACT [DOID:6024, NCIT:C27143]
synonym: "selective immunoglobulin E deficiency" EXACT [DOID:6024]
xref: DOID:6024 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27143 {source="MONDO:equivalentTo", source="DOID:6024", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:234540007 {source="MONDO:equivalentTo", source="DOID:6024", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0398694 {source="NCIT:C27143", source="MONDO:equivalentTo", source="DOID:6024"}
is_a: MONDO:0001342 {source="DOID:6024"} ! dysgammaglobulinemia (disease)
property_value: exactMatch DOID:6024
property_value: exactMatch http://identifiers.org/snomedct/234540007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398694
property_value: exactMatch NCIT:C27143

[Term]
id: MONDO:0003739
name: selective immunoglobulin deficiency disease
def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." [NCIT:C27870]
synonym: "selective Immunoglobulin isotype deficiency" EXACT [NCIT:C27870]
xref: DOID:6025 {source="MONDO:equivalentTo"}
xref: NCIT:C27870 {source="DOID:6025", source="MONDO:equivalentTo"}
xref: UMLS:C1335942 {source="DOID:6025", source="NCIT:C27870", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002211 {source="DOID:6025", source="NCIT:C27870"} ! B cell deficiency
property_value: exactMatch DOID:6025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335942
property_value: exactMatch NCIT:C27870

[Term]
id: MONDO:0003740
name: AIDS phobia
def: "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." [NCIT:C35614]
synonym: "AIDS phobia" EXACT [NCIT:C35614]
xref: DOID:603 {source="MONDO:equivalentTo"}
xref: EFO:1001873 {source="MONDO:equivalentTo"}
xref: NCIT:C35614 {source="DOID:603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C0853870 {source="DOID:603", source="MONDO:equivalentTo", source="NCIT:C35614"}
is_a: MONDO:0000600 {source="DOID:603", source="EFO:1001873"} ! nosophobia
property_value: exactMatch DOID:603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853870
property_value: exactMatch NCIT:C35614

[Term]
id: MONDO:0003741
name: juvenile type testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." [NCIT:P378]
synonym: "juvenile granulosa cell tumor" EXACT [DOID:6032]
synonym: "juvenile granulosa cell tumor (morphologic abnormality)" EXACT [DOID:6032]
synonym: "juvenile granulosa cell tumour" EXACT [DOID:6032]
synonym: "juvenile type granulosa cell neoplasm" EXACT [DOID:6032]
synonym: "juvenile type granulosa cell tumor" EXACT [DOID:6032, NCIT:C4207]
xref: DOID:6032 {source="MONDO:equivalentTo"}
xref: NCIT:C39947 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.80/0.32", source="DOID:6032"}
xref: UMLS:C0334403 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6032"}
xref: UMLS:C1515285 {source="MONDO:equivalentTo", source="DOID:6032", source="NCIT:C39947"}
is_a: MONDO:0003395 {source="DOID:6032", source="MONDOLEX:0003741", source="NCIT:C39947"} ! testicular granulosa cell tumor
property_value: closeMatch http://identifiers.org/snomedct/189735004
property_value: closeMatch http://identifiers.org/snomedct/77029009
property_value: exactMatch DOID:6032
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515285
property_value: exactMatch NCIT:C39947

[Term]
id: MONDO:0003742
name: heart fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
synonym: "Cardiac fibrosarcoma" EXACT [NCIT:C5361]
synonym: "cardiac fibrosarcoma" EXACT [DOID:6033]
synonym: "fibrosarcoma of heart" EXACT [NCIT:C5361]
synonym: "fibrosarcoma of the heart" EXACT [DOID:6033, NCIT:C5361]
synonym: "heart fibrosarcoma" EXACT [NCIT:C5361]
synonym: "heart fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6033 {source="MONDO:equivalentTo"}
xref: NCIT:C5361 {source="MONDO:equivalentTo", source="DOID:6033", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332844 {source="NCIT:C5361", source="MONDO:equivalentTo", source="DOID:6033"}
is_a: MONDO:0003354 {source="DOID:6033", source="MONDO:Redundant", source="NCIT:C5361"} ! heart sarcoma
is_a: MONDO:0005164 {source="DOID:6033", source="MONDO:Redundant", source="MONDOLEX:0003742", source="NCIT:C5361/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:6033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332844
property_value: exactMatch NCIT:C5361

[Term]
id: MONDO:0003743
name: heart malignant hemangiopericytoma
def: "A malignant hemangiopericytoma arising in the heart." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "heart hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "heart spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "malignant Cardiac hemangiopericytoma" EXACT [NCIT:C5365]
synonym: "malignant heart hemangiopericytoma" EXACT [NCIT:C5365]
synonym: "malignant hemangiopericytoma of heart" EXACT [DOID:6034, NCIT:C5365]
synonym: "malignant hemangiopericytoma of the heart" EXACT [NCIT:C5365]
xref: DOID:6034 {source="MONDO:equivalentTo"}
xref: NCIT:C5365 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10", source="DOID:6034"}
xref: UMLS:C1334567 {source="NCIT:C5365", source="MONDO:equivalentTo", source="DOID:6034"}
is_a: MONDO:0005094 {source="DOID:6034", source="MONDO:Redundant", source="NCIT:C5365/inferred"} ! hemangiopericytoma
is_a: MONDO:0021209 ! heart neoplasm
relationship: excluded_subClassOf MONDO:0003354 {source="DOID:6034"} ! heart sarcoma
property_value: exactMatch DOID:6034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334567
property_value: exactMatch NCIT:C5365

[Term]
id: MONDO:0003744
name: spindle cell intraocular melanoma
def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes." [NCIT:P378]
synonym: "spindle cell melanoma of the uvea" EXACT [NCIT:C7986]
synonym: "spindle cell melanoma of uvea" EXACT [NCIT:C7986]
synonym: "spindle cell uveal melanoma" EXACT [NCIT:C7986]
synonym: "uveal spindle cell melanoma" EXACT [DOID:6037, NCIT:C7986]
xref: DOID:6037 {source="MONDO:equivalentTo"}
xref: NCIT:C7986 {source="DOID:6037", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/23.04"}
xref: UMLS:C0279687 {source="DOID:6037", source="MONDO:equivalentTo", source="NCIT:C7986"}
is_a: MONDO:0006427 {source="NCIT:C7986"} ! spindle cell melanoma
is_a: MONDO:0006486 {source="NCIT:C7986"} ! uveal melanoma
is_a: MONDO:0020663 ! malignant spindle cell neoplasm
property_value: exactMatch DOID:6037
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279687
property_value: exactMatch NCIT:C7986

[Term]
id: MONDO:0003745
name: choroid spindle cell melanoma
def: "A spindle cell melanoma that involves the optic choroid." [MONDO:patterns/location]
synonym: "optic choroid spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of choroid" EXACT [NCIT:C6099]
synonym: "spindle cell melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "spindle cell melanoma of the choroid" EXACT [DOID:6041, NCIT:C6099]
xref: DOID:6041 {source="MONDO:equivalentTo"}
xref: NCIT:C6099 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/23.04", source="DOID:6041"}
xref: UMLS:C1333027 {source="NCIT:C6099", source="MONDO:equivalentTo", source="DOID:6041"}
is_a: MONDO:0003744 ! spindle cell intraocular melanoma
is_a: MONDO:0003878 {source="DOID:6041", source="MONDO:Redundant", source="NCIT:C6099"} ! malignant choroid melanoma
property_value: exactMatch DOID:6041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333027
property_value: exactMatch NCIT:C6099

[Term]
id: MONDO:0003746
name: ciliary body spindle cell melanoma
def: "A spindle cell melanoma that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of ciliary body" EXACT [NCIT:C6117]
synonym: "spindle cell melanoma of the ciliary body" EXACT [DOID:6043, NCIT:C6117]
xref: DOID:6043 {source="MONDO:equivalentTo"}
xref: NCIT:C6117 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6043"}
xref: UMLS:C1333052 {source="MONDO:equivalentTo", source="NCIT:C6117", source="DOID:6043"}
is_a: MONDO:0003912 {source="MONDO:Redundant", source="NCIT:C6117"} ! malignant ciliary body melanoma
is_a: MONDO:0004188 {source="DOID:6043", source="MONDO:Entailed", source="MONDO:Redundant"} ! iris spindle cell melanoma
property_value: exactMatch DOID:6043
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333052
property_value: exactMatch NCIT:C6117

[Term]
id: MONDO:0003747
name: telangiectatic glomangioma
def: "A glomus tumor characterized by huge vascular channel formations." [NCIT:C5345]
synonym: "telangiectatic glomangioma" EXACT [NCIT:C5345]
xref: DOID:6048 {source="MONDO:equivalentTo"}
xref: NCIT:C5345 {source="DOID:6048", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336699 {source="DOID:6048", source="MONDO:equivalentTo", source="NCIT:C5345"}
is_a: MONDO:0002298 {source="DOID:6048", source="NCIT:C5345"} ! cutaneous glomangioma
property_value: exactMatch DOID:6048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336699
property_value: exactMatch NCIT:C5345

[Term]
id: MONDO:0003748
name: flying phobia
def: "An overwhelming, irrational, and persistent fear of traveling in an aircraft." [NCIT:C35413]
xref: DOID:605 {source="MONDO:equivalentTo"}
xref: EFO:1001889 {source="MONDO:equivalentTo"}
xref: NCIT:C35413 {source="MONDO:equivalentTo", source="DOID:605", source="MONDO:kboom-pr-1.00/0.86/15.87"}
is_a: MONDO:0012000 {source="DOID:605", source="EFO:1001889", source="NCIT:C35413"} ! specific phobia
property_value: closeMatch http://identifiers.org/snomedct/192045005
property_value: closeMatch http://identifiers.org/snomedct/247854002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344318
property_value: exactMatch DOID:605
property_value: exactMatch NCIT:C35413

[Term]
id: MONDO:0003749
name: esophageal disease
def: "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." [NCIT:C3027]
synonym: "disease of esophagus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of esophagus" EXACT []
synonym: "disorder of esophagus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of esophagus" RELATED [MONDO:patterns/location_top]
synonym: "esophageal disorder" EXACT [NCIT:C3027]
synonym: "esophageal ulcer" NARROW [DOID:6050, NCIT:C26950]
synonym: "esophagus disease" EXACT [MONDO:patterns/location]
synonym: "esophagus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:6050 {source="MONDO:equivalentTo"}
xref: ICD10:K22.9 {source="DOID:6050"}
xref: ICD9:530 {source="DOID:6050"}
xref: ICD9:530.2 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:530.20 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:530.9 {source="DOID:6050"}
xref: MESH:D004935 {source="MONDO:equivalentTo", source="DOID:6050", source="MONDO:ontobio"}
xref: NCIT:C3027 {source="MONDO:equivalentTo", source="DOID:6050"}
xref: SCTID:30811009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.00"}
xref: SCTID:37657006 {source="MONDO:equivalentTo", source="DOID:6050"}
xref: UMLS:C0014852 {source="MONDO:equivalentTo", source="DOID:6050"}
is_a: MONDO:0000651 ! thoracic disease
is_a: MONDO:0044991 ! upper digestive tract disease
property_value: closeMatch http://identifiers.org/snomedct/155671005
property_value: closeMatch http://identifiers.org/snomedct/155680005
property_value: closeMatch http://identifiers.org/snomedct/196626000
property_value: closeMatch http://identifiers.org/snomedct/266497000
property_value: exactMatch DOID:6050
property_value: exactMatch http://identifiers.org/mesh/D004935
property_value: exactMatch http://identifiers.org/snomedct/30811009
property_value: exactMatch http://identifiers.org/snomedct/37657006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014852
property_value: exactMatch NCIT:C3027

[Term]
id: MONDO:0003750
name: childhood central nervous system germ cell tumor
def: "A germ cell tumor of the central nervous system occurring in children." [NCIT:C6205]
synonym: "central nervous system childhood germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system germ cell tumor" EXACT [NCIT:C6205]
synonym: "central nervous system pediatric germ cell cancer" EXACT [MONDO:patterns/location]
synonym: "childhood central nervous system germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "childhood central nervous system germ cell tumor" EXACT [NCIT:C6205]
synonym: "childhood CNS germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "childhood CNS germ cell tumor" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of the central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of the CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of the central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of the CNS" EXACT [NCIT:C6205]
synonym: "pediatric central nervous system germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "pediatric central nervous system germ cell tumor" EXACT [NCIT:C6205]
synonym: "pediatric CNS germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "pediatric CNS germ cell tumor" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of CNS" EXACT [DOID:6052, NCIT:C6205]
synonym: "pediatric germ cell neoplasm of the central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of the CNS" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of CNS" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of the central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of the CNS" EXACT [NCIT:C6205]
xref: DOID:6052 {source="MONDO:equivalentTo"}
xref: NCIT:C6205 {source="MONDO:equivalentTo", source="DOID:6052"}
xref: UMLS:C0278754 {source="MONDO:equivalentTo", source="NCIT:C6205", source="DOID:6052"}
is_a: MONDO:0003000 {source="DOID:6052", source="MONDO:Redundant", source="MONDOLEX:0003750", source="NCIT:C6205"} ! central nervous system germ cell tumor
is_a: MONDO:0003751 {source="DOID:6052", source="MONDO:Redundant", source="MONDOLEX:0003750", source="NCIT:C6205"} ! childhood germ cell tumor
property_value: exactMatch DOID:6052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278754
property_value: exactMatch NCIT:C6205

[Term]
id: MONDO:0003751
name: childhood germ cell tumor
def: "A germ cell tumor that occurs during childhood." [NCIT:C7928]
synonym: "childhood germ cell neoplasm" EXACT [NCIT:C7928]
synonym: "childhood germ cell tumor" EXACT [NCIT:C7928]
synonym: "germ cell tumor" EXACT [NCIT:C7928]
synonym: "pediatric germ cell cancer" RELATED [DOID:6053]
synonym: "pediatric germ cell neoplasm" EXACT [DOID:6053, NCIT:C7928]
synonym: "pediatric germ cell tumor" EXACT [DOID:6053, NCIT:C7928]
xref: DOID:6053 {source="MONDO:equivalentTo"}
xref: NCIT:C7928 {source="MONDO:equivalentTo", source="DOID:6053", source="MONDO:kboom-pr-0.93/0.77/1.17"}
xref: UMLS:C0279014 {source="NCIT:C7928", source="MONDO:equivalentTo", source="DOID:6053"}
is_a: MONDO:0005040 {source="DOID:6053", source="MONDO:Redundant", source="MONDOLEX:0003751", source="NCIT:C7928"} ! germ cell tumor
is_a: MONDO:0021079 {source="MONDO:Redundant", source="MONDOLEX:0003751", source="NCIT:C7928"} ! childhood neoplasm
property_value: exactMatch DOID:6053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279014
property_value: exactMatch NCIT:C7928

[Term]
id: MONDO:0003752
name: frontal sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6837]
synonym: "frontal sinus Schneiderian papilloma" EXACT [NCIT:C6837]
synonym: "Schneiderian papilloma of frontal sinus" RELATED [NCIT:C6837]
synonym: "Schneiderian papilloma of the frontal sinus" EXACT [DOID:6054, NCIT:C6837]
xref: DOID:6054 {source="MONDO:equivalentTo"}
xref: NCIT:C6837 {source="MONDO:equivalentTo", source="DOID:6054"}
xref: UMLS:C1333645 {source="MONDO:equivalentTo", source="DOID:6054", source="NCIT:C6837"}
is_a: MONDO:0006353 {source="NCIT:C6837"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021483 {source="MONDO:Redundant", source="NCIT:C6837"} ! benign neoplasm of frontal sinus
property_value: exactMatch DOID:6054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333645
property_value: exactMatch NCIT:C6837

[Term]
id: MONDO:0003753
name: nasal vestibule squamous papilloma
def: "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." [NCIT:P378]
synonym: "nasal vestibule papilloma" EXACT [MONDO:patterns/location, NCIT:C4369]
synonym: "nasal vestibule squamous papilloma" EXACT [MONDO:patterns/location, NCIT:C4369]
synonym: "papilloma of nasal vestibule" EXACT [NCIT:C4369]
synonym: "papilloma of the nasal vestibule" EXACT [NCIT:C4369]
synonym: "squamous papilloma of nasal vestibule" EXACT [NCIT:C4369]
synonym: "squamous papilloma of the nasal vestibule" EXACT [DOID:6059, NCIT:C4369]
xref: DOID:6059 {source="MONDO:equivalentTo"}
xref: ICD9:478.19 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4369 {source="DOID:6059", source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:232364006 {source="DOID:6059", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339826 {source="DOID:6059", source="MONDO:equivalentTo", source="NCIT:C4369"}
is_a: MONDO:0001825 {source="MONDO:Redundant", source="MONDOLEX:0003753", source="NCIT:C4369"} ! squamous papilloma
is_a: MONDO:0021475 {source="MONDO:Redundant", source="NCIT:C4369"} ! benign neoplasm of nasal cavity
property_value: exactMatch DOID:6059
property_value: exactMatch http://identifiers.org/snomedct/232364006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339826
property_value: exactMatch NCIT:C4369

[Term]
id: MONDO:0003754
name: Brown-Sequard syndrome
def: "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord . This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases ( tuberculosis or multiple sclerosis ), and disk herniation . Treatment for this condition varies depending on the underlying cause." [https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome]
subset: gard_rare {source="GARD:0005964"}
synonym: "Brown-Squard syndrome" EXACT [DOID:606]
synonym: "Hemicord syndrome" RELATED [GARD:0005964]
synonym: "Hemiparaplegic syndrome" RELATED [GARD:0005964]
synonym: "Hemispinal cord syndrome" RELATED [GARD:0005964]
xref: DOID:606 {source="MONDO:equivalentTo"}
xref: EFO:1001279 {source="MONDO:equivalentTo"}
xref: GARD:0005964 {source="MONDO:equivalentTo"}
xref: ICD10:G83.81 {source="DOID:606", source="MONDO:equivalentTo"}
xref: MESH:D018437 {source="DOID:606", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84601 {source="DOID:606", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:27982003 {source="DOID:606", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
is_a: MONDO:0002254 {source="MONDOLEX:0003754", source="NCIT:C84601"} ! syndromic disease
is_a: MONDO:0003757 {source="DOID:606", source="MESH:D018437"} ! paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242644
property_value: exactMatch DOID:606
property_value: exactMatch http://identifiers.org/mesh/D018437
property_value: exactMatch http://identifiers.org/snomedct/27982003
property_value: exactMatch NCIT:C84601
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome xsd:anyURI {source="GARD:0005964"}

[Term]
id: MONDO:0003755
name: urinary tract non-invasive transitional cell neoplasm
synonym: "non-invasive transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39854]
synonym: "non-invasive urothelial neoplasm" EXACT [NCIT:C39854]
xref: DOID:6065 {source="MONDO:equivalentTo"}
xref: NCIT:C39854 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo", source="DOID:6065"}
xref: UMLS:C1518361 {source="MONDO:equivalentTo", source="NCIT:C39854", source="DOID:6065"}
is_a: MONDO:0024337 {source="MONDO:Redundant", source="NCIT:C39854"} ! urothelial neoplasm
relationship: excluded_subClassOf MONDO:0003443 {source="DOID:6065"} ! papillary urothelial neoplasm
property_value: exactMatch DOID:6065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518361
property_value: exactMatch NCIT:C39854

[Term]
id: MONDO:0003756
name: ovarian mucinous neoplasm
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C5242]
synonym: "malignant ovarian mucinous neoplasm" NARROW [DOID:6067]
synonym: "mucinous neoplasm of ovary" EXACT [NCIT:C5242]
synonym: "mucinous neoplasm of the ovary" EXACT [NCIT:C5242]
synonym: "mucinous tumor of ovary" EXACT [DOID:6067, NCIT:C5242]
synonym: "mucinous tumor of the ovary" EXACT [NCIT:C5242]
synonym: "ovarian mucinous neoplasm" EXACT [NCIT:C5242]
synonym: "ovarian mucinous tumor" EXACT [DOID:6067, NCIT:C5242]
xref: DOID:6067 {source="MONDO:equivalentTo"}
xref: NCIT:C5242 {source="MONDO:equivalentTo", source="DOID:6067"}
xref: UMLS:C1335168 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5242", source="MONDO:equivalentTo", source="DOID:6067"}
is_a: MONDO:0002229 {source="DOID:6067", source="NCIT:C5242"} ! ovarian epithelial tumor
property_value: closeMatch http://identifiers.org/snomedct/189683008
property_value: exactMatch DOID:6067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335168
property_value: exactMatch NCIT:C5242

[Term]
id: MONDO:0003757
name: paraplegia
def: "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." [NCIT:P378]
subset: gard_rare {source="GARD:0007327"}
synonym: "paraplegia, lower" EXACT [DOID:607, MTHICD9_2006:344.1]
synonym: "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" RELATED [GARD:0007327]
xref: COHD:192606 {source="MONDO:equivalentTo"}
xref: DOID:607 {source="MONDO:equivalentTo"}
xref: GARD:0007327 {source="MONDO:equivalentTo"}
xref: ICD10:G82.2 {source="DOID:607"}
xref: ICD10:G82.20 {source="DOID:607"}
xref: ICD9:344.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:607"}
xref: MESH:D010264 {source="MONDO:equivalentTo", source="DOID:607", source="MONDO:ontobio"}
xref: NCIT:C50687 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:607"}
xref: SCTID:60389000 {source="MONDO:equivalentTo", source="DOID:607", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0030486 {source="NCIT:C50687", source="MONDO:equivalentTo", source="DOID:607"}
is_a: MONDO:0006496 {source="MESH:D010264"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:607"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155031004
property_value: exactMatch DOID:607
property_value: exactMatch http://identifiers.org/mesh/D010264
property_value: exactMatch http://identifiers.org/snomedct/60389000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030486
property_value: exactMatch NCIT:C50687
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7327/paraplegia xsd:anyURI {source="GARD:0007327"}

[Term]
id: MONDO:0003758
name: childhood testicular germ cell tumor
def: "A germ cell tumor that arises from the testis during childhood." [NCIT:C6552]
synonym: "childhood testicular germ cell neoplasm" RELATED [NCIT:C6552]
synonym: "childhood testicular germ cell tumor" EXACT [NCIT:C6552]
synonym: "pediatric testicular germ cell neoplasm" EXACT [DOID:6082, NCIT:C6552]
synonym: "pediatric testicular germ cell tumor" EXACT [MONDO:patterns/childhood]
synonym: "pediatric testicular germ cell tumor" RELATED [MONDO:patterns/childhood, NCIT:C6552]
synonym: "testicular germ cell tumor" EXACT [NCIT:C6552]
synonym: "testicular germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6082 {source="MONDO:equivalentTo"}
xref: NCIT:C6552 {source="DOID:6082", source="MONDO:equivalentTo"}
xref: UMLS:C0796663 {source="DOID:6082", source="MONDO:equivalentTo"}
is_a: MONDO:0010108 {source="DOID:6082", source="MONDO:Redundant", source="MONDOLEX:0003758", source="NCIT:C6552"} ! testicular germ cell tumor
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
is_a: MONDO:0037250 ! childhood testicular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0886477
property_value: exactMatch DOID:6082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796663
property_value: exactMatch NCIT:C6552

[Term]
id: MONDO:0003759
name: childhood ovarian yolk sac tumor
def: "A yolk sac tumor that arises from the ovary and occurs in children." [NCIT:C6551]
synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [DOID:6083, NCIT:C6551]
synonym: "childhood ovarian endodermal sinus tumor" RELATED [NCIT:C6551]
synonym: "childhood ovarian yolk Sac neoplasm" RELATED [NCIT:C6551]
synonym: "childhood ovarian yolk sac tumor" EXACT [NCIT:C6551]
synonym: "ovary childhood endodermal sinus tumor" EXACT [MONDO:patterns/location]
synonym: "pediatric ovarian endodermal sinus neoplasm" RELATED [NCIT:C6551]
synonym: "pediatric ovarian endodermal sinus tumor" RELATED [NCIT:C6551]
synonym: "pediatric ovarian yolk Sac neoplasm" RELATED [NCIT:C6551]
synonym: "pediatric ovarian yolk Sac tumor" EXACT [DOID:6083, NCIT:C6551]
xref: DOID:6083 {source="MONDO:equivalentTo"}
xref: NCIT:C6551 {source="NCIT:C6551", source="MONDO:equivalentTo", source="DOID:6083"}
xref: UMLS:C1332993 {source="NCIT:C6551", source="MONDO:equivalentTo", source="DOID:6083"}
is_a: MONDO:0003400 {source="MONDO:Redundant", source="MONDOLEX:0003759", source="NCIT:C6551"} ! childhood endodermal sinus tumor
is_a: MONDO:0003760 ! pediatric ovarian germ cell tumor
is_a: MONDO:0006344 {source="DOID:6083", source="MONDO:Redundant", source="MONDOLEX:0003759", source="NCIT:C6551"} ! ovarian yolk sac tumor
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
property_value: exactMatch DOID:6083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332993
property_value: exactMatch NCIT:C6551

[Term]
id: MONDO:0003760
name: pediatric ovarian germ cell tumor
def: "A germ cell tumor that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood ovarian germ cell neoplasm" EXACT [NCIT:C8588]
synonym: "childhood ovarian germ cell tumor" EXACT [NCIT:C8588]
synonym: "ovarian germ cell tumor" EXACT [NCIT:C8588]
synonym: "ovarian germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric ovarian germ cell neoplasm" EXACT [DOID:6084, NCIT:C8588]
synonym: "pediatric ovarian germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C8588]
xref: DOID:6084 {source="MONDO:equivalentTo"}
xref: NCIT:C8588 {source="MONDO:equivalentTo", source="DOID:6084", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0796664 {source="NCIT:C8588", source="MONDO:equivalentTo", source="DOID:6084"}
is_a: MONDO:0003751 ! childhood germ cell tumor
is_a: MONDO:0011366 {source="DOID:6084", source="MONDO:Redundant", source="MONDOLEX:0003760", source="NCIT:C8588"} ! ovarian germ cell tumor
property_value: exactMatch DOID:6084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796664
property_value: exactMatch NCIT:C8588

[Term]
id: MONDO:0003761
name: leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes." [NCIT:C5317]
comment: Editor note: TODO check meninx vs leptomeninges
synonym: "leptomeningeal melanoma" EXACT [NCIT:C5317]
synonym: "leptomeninx melanoma" EXACT []
synonym: "leptomeninx melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant melanoma of meninges" EXACT []
synonym: "melanoma (disease) of leptomeninx" EXACT []
synonym: "melanoma of leptomeninges" RELATED [NCIT:C5317]
synonym: "melanoma of the leptomeninges" EXACT [DOID:6085, NCIT:C5317]
synonym: "meningeal melanoma" EXACT [NCIT:C5317]
xref: DOID:6085 {source="MONDO:equivalentTo"}
xref: NCIT:C5317 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"}
xref: SCTID:277530005 {source="MONDO:equivalentTo"}
xref: UMLS:C1334386 {source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"}
is_a: MONDO:0003762 {source="DOID:6085", source="MONDO:Redundant", source="NCIT:C5317"} ! malignant leptomeningeal tumor
is_a: MONDO:0016747 {source="MONDO:Redundant", source="NCIT:C5317"} ! primary melanoma of the central nervous system
property_value: exactMatch DOID:6085
property_value: exactMatch http://identifiers.org/snomedct/277530005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334386
property_value: exactMatch NCIT:C5317

[Term]
id: MONDO:0003762
name: malignant leptomeningeal tumor
def: "A primary or metastatic malignant tumor involving the leptomeninges." [NCIT:C8506]
synonym: "cancer of leptomeninx" EXACT [MONDO:patterns/cancer]
synonym: "leptomeningeal cancer" RELATED [NCIT:C8506]
synonym: "leptomeninx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant leptomeningeal neoplasm" EXACT [NCIT:C8506]
synonym: "malignant leptomeningeal tumor" EXACT [NCIT:C8506]
synonym: "malignant leptomeninx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of leptomeninges" RELATED [NCIT:C8506]
synonym: "malignant neoplasm of leptomeninx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the leptomeninges" RELATED [NCIT:C8506]
synonym: "malignant tumor of leptomeninges" EXACT [DOID:6086, NCIT:C8506]
synonym: "malignant tumor of the leptomeninges" RELATED [NCIT:C8506]
xref: DOID:6086 {source="MONDO:equivalentTo"}
xref: NCIT:C8506 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"}
xref: UMLS:C1334596 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"}
is_a: MONDO:0016642 {source="DOID:6086", source="MONDOLEX:0003762"} ! meningioma (disease)
is_a: MONDO:0021322 {source="MONDO:Redundant", source="MONDOLEX:0003762", source="NCIT:C8506"} ! malignant tumor of meninges
property_value: exactMatch DOID:6086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334596
property_value: exactMatch NCIT:C8506

[Term]
id: MONDO:0003763
name: acute stress disorder
def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." [NCIT:C92621]
synonym: "acute stress reaction" EXACT [MONDO:0005457]
synonym: "traumatic stress disorder" EXACT [DOID:6088]
xref: COHD:440083 {source="MONDO:equivalentTo"}
xref: DOID:6088 {source="MONDO:equivalentTo"}
xref: EFO:0005223 {source="MONDO:equivalentTo"}
xref: ICD10:F43.0 {source="MONDO:equivalentTo"}
xref: ICD9:308.3 {source="MONDO:relatedTo", source="i2s", source="DOID:6088"}
xref: ICD9:308.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000068099 {source="MONDO:equivalentTo"}
xref: NCIT:C92621 {source="EFO:0005223", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:67195008 {source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
xref: Wikipedia:Acute_stress_reaction {source="EFO:0005223"}
is_a: MONDO:0005618 {source="DOID:6088", source="NCIT:C92621", source="linkedlifedata"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/snomedct/192040000
property_value: closeMatch http://identifiers.org/snomedct/192043003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029488
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236816
property_value: exactMatch DOID:6088
property_value: exactMatch http://identifiers.org/mesh/D000068099
property_value: exactMatch http://identifiers.org/snomedct/67195008
property_value: exactMatch NCIT:C92621

[Term]
id: MONDO:0003764
name: pediatric leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." [NCIT:P378]
synonym: "childhood leptomeningeal melanoma" EXACT [NCIT:C5318]
synonym: "childhood meningeal melanoma" EXACT [NCIT:C5318]
synonym: "pediatric meningeal melanoma" EXACT [NCIT:C5318]
xref: DOID:6089 {source="MONDO:equivalentTo"}
xref: NCIT:C5318 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:6089"}
xref: UMLS:C1332976 {source="MONDO:equivalentTo", source="NCIT:C5318", source="DOID:6089"}
is_a: MONDO:0003057 ! pediatric meningioma
is_a: MONDO:0003761 {source="DOID:6089", source="MONDOLEX:0003764", source="NCIT:C5318"} ! leptomeningeal melanoma
is_a: MONDO:0042494 ! childhood malignant melanoma
property_value: exactMatch DOID:6089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332976
property_value: exactMatch NCIT:C5318

[Term]
id: MONDO:0003765
name: adult leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." [NCIT:C5319]
synonym: "adult leptomeningeal melanoma" EXACT [NCIT:C5319]
synonym: "adult meningeal melanoma" EXACT [NCIT:C5319]
synonym: "melanoma of adult leptomeninges" EXACT [DOID:6090, NCIT:C5319]
synonym: "melanoma of the adult leptomeninges" RELATED [NCIT:C5319]
xref: DOID:6090 {source="MONDO:equivalentTo"}
xref: NCIT:C5319 {source="DOID:6090", source="MONDO:equivalentTo", source="NCIT:C5319"}
xref: UMLS:C1332204 {source="DOID:6090", source="MONDO:equivalentTo", source="NCIT:C5319"}
is_a: MONDO:0003761 {source="DOID:6090", source="MONDOLEX:0003765", source="NCIT:C5319"} ! leptomeningeal melanoma
property_value: exactMatch DOID:6090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332204
property_value: exactMatch NCIT:C5319

[Term]
id: MONDO:0003766
name: thalamic cancer
def: "A cancer involving a dorsal plus ventral thalamus." [MONDO:patterns/cancer]
synonym: "cancer of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer]
synonym: "dorsal plus ventral thalamus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant dorsal plus ventral thalamus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of thalamus" EXACT [DOID:6098, NCIT:C4576]
synonym: "malignant neoplasm of the thalamus" EXACT [NCIT:C4576]
synonym: "malignant thalamic neoplasm" EXACT [NCIT:C4576]
synonym: "malignant thalamic neoplasms" EXACT [NCIT:C4576]
synonym: "malignant thalamic tumor" EXACT [NCIT:C4576]
synonym: "malignant thalamic tumors" EXACT [NCIT:C4576]
synonym: "malignant thalamus neoplasm" EXACT [NCIT:C4576]
synonym: "malignant thalamus neoplasms" EXACT [NCIT:C4576]
synonym: "malignant thalamus tumor" EXACT [NCIT:C4576]
synonym: "malignant thalamus tumors" EXACT [NCIT:C4576]
synonym: "malignant tumor of thalamus" EXACT [DOID:6098, NCIT:C4576]
synonym: "malignant tumor of the thalamus" EXACT [NCIT:C4576]
synonym: "thalamic neoplasm" RELATED [DOID:6098]
synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221]
xref: DOID:6098 {source="MONDO:equivalentTo"}
xref: NCIT:C4576 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07", source="DOID:6098"}
xref: SCTID:188287005 {source="MONDO:equivalentTo", source="DOID:6098", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346902 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4576", source="DOID:6098"}
is_a: MONDO:0002786 {source="DOID:6098", source="MONDO:Redundant", source="NCIT:C4576"} ! diencephalic cancer
is_a: MONDO:0003081 ! thalamic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336733
property_value: closeMatch NCIT:C6221
property_value: exactMatch DOID:6098
property_value: exactMatch http://identifiers.org/snomedct/188287005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346902
property_value: exactMatch NCIT:C4576

[Term]
id: MONDO:0003767
name: mitral valve disease
def: "A disease involving the mitral valve." [MONDO:DesignPattern]
synonym: "chronic rheumatic mitral valve" EXACT [DOID:61]
synonym: "disease of mitral valve" EXACT [DOID:61, ICD9CM_2006:394, MONDO:patterns/location_top]
synonym: "disease or disorder of mitral valve" EXACT []
synonym: "disorder of mitral valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of mitral valve" RELATED [MONDO:patterns/location_top]
synonym: "mitral RH valve dis." EXACT [DOID:61]
synonym: "mitral valve disease" EXACT [MONDO:patterns/location]
synonym: "mitral valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "mitral valve disorder" EXACT [NCIT:C78446]
synonym: "rheumatic disease of mitral valve" NARROW [DOID:61]
synonym: "rheumatic mitral insufficiency" NARROW [DOID:61, ICD9CM_2006:394.1]
synonym: "rheumatic mitral valve changes" NARROW [DOID:61]
synonym: "rheumatic mitral valve incompetence" NARROW [DOID:61]
synonym: "rheumatic mitral valve regurgitation" NARROW [DOID:61, MTHICD9_2006:394.1]
xref: DOID:61 {source="MONDO:equivalentTo"}
xref: ICD10:I05 {source="DOID:61"}
xref: ICD10:I05.1 {source="DOID:61"}
xref: ICD10:I05.9 {source="DOID:61"}
xref: ICD9:394 {source="DOID:61"}
xref: ICD9:394.1 {source="DOID:61"}
xref: ICD9:394.9 {source="linkedlifedata"}
xref: ICD9:424.0 {source="DOID:61", source="linkedlifedata"}
xref: NCIT:C78446 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:61"}
xref: SCTID:11851006 {source="MONDO:equivalentTo", source="DOID:61"}
xref: UMLS:C0026265 {source="MONDO:equivalentTo", source="NCIT:C78446", source="DOID:61"}
xref: UMLS:C2939153 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002869 {source="DOID:61", source="MONDO:Redundant", source="NCIT:C78446", source="linkedlifedata"} ! heart valve disease
property_value: closeMatch http://identifiers.org/snomedct/155276006
property_value: closeMatch http://identifiers.org/snomedct/155278007
property_value: closeMatch http://identifiers.org/snomedct/155279004
property_value: closeMatch http://identifiers.org/snomedct/194724009
property_value: closeMatch http://identifiers.org/snomedct/194729004
property_value: closeMatch http://identifiers.org/snomedct/194982000
property_value: closeMatch http://identifiers.org/snomedct/250998008
property_value: closeMatch http://identifiers.org/snomedct/266278002
property_value: closeMatch http://identifiers.org/snomedct/266279005
property_value: closeMatch http://identifiers.org/snomedct/31085000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155563
property_value: exactMatch DOID:61
property_value: exactMatch http://identifiers.org/snomedct/11851006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939153
property_value: exactMatch NCIT:C78446

[Term]
id: MONDO:0003768
name: signet ring cell variant cervical mucinous adenocarcinoma
def: "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells." [NCIT:P378]
synonym: "cervical mucinous adenocarcinoma, signet Ring cell type" EXACT [NCIT:C40205]
synonym: "cervical mucinous adenocarcinoma, signet Ring cell variant" EXACT [NCIT:C40205]
synonym: "signet ring mucinous carcinoma" RELATED [ONCOTREE:SCEMU]
xref: DOID:6101 {source="MONDO:equivalentTo"}
xref: NCIT:C40205 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo", source="DOID:6101"}
xref: ONCOTREE:SCEMU {source="MONDO:equivalentTo"}
xref: UMLS:C1516424 {source="NCIT:C40205", source="MONDO:equivalentTo", source="DOID:6101"}
is_a: MONDO:0002742 {source="DOID:6101", source="MONDOLEX:0003768", source="NCIT:C40205"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0005092 {source="NCIT:C40205"} ! signet ring cell carcinoma
property_value: exactMatch DOID:6101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516424
property_value: exactMatch NCIT:C40205

[Term]
id: MONDO:0003769
name: herpetic gastritis
def: "Gastritis resulting from herpes virus." [NCIT:P378]
synonym: "Herpesviridae caused viral gastritis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae viral gastritis" EXACT []
xref: DOID:6102 {source="MONDO:equivalentTo"}
xref: NCIT:C27341 {source="DOID:6102", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333996 {source="DOID:6102", source="MONDO:equivalentTo"}
is_a: MONDO:0002270 {source="DOID:6102", source="MONDO:Redundant", source="NCIT:C27341"} ! viral gastritis
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0948172
property_value: exactMatch DOID:6102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333996
property_value: exactMatch NCIT:C27341

[Term]
id: MONDO:0003770
name: thoracic spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the thoracic region of the spinal cord." [NCIT:P378]
synonym: "meningioma of the thoracic spinal canal and spinal cord" EXACT [DOID:6103, NCIT:C5297]
synonym: "meningioma of thoracic spinal canal and spinal cord" EXACT [NCIT:C5297]
synonym: "thoracic intraspinal meningioma" EXACT [NCIT:C5297]
xref: DOID:6103 {source="MONDO:equivalentTo"}
xref: NCIT:C5297 {source="DOID:6103", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336738 {source="DOID:6103", source="NCIT:C5297", source="MONDO:equivalentTo"}
is_a: MONDO:0001279 {source="DOID:6103", source="MONDOLEX:0003770", source="NCIT:C5297"} ! intraspinal meningioma
property_value: exactMatch DOID:6103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336738
property_value: exactMatch NCIT:C5297

[Term]
id: MONDO:0003771
name: jugular foramen meningioma
def: "A meningioma that affects the jugular foramen." [NCIT:P378]
synonym: "jugular foramen meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of jugular foramen" EXACT []
synonym: "meningioma of jugular Foramen" EXACT [NCIT:C5293]
synonym: "meningioma of the jugular Foramen" EXACT [DOID:6110, NCIT:C5293]
xref: DOID:6110 {source="MONDO:equivalentTo"}
xref: NCIT:C5293 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6110"}
xref: UMLS:C1334298 {source="MONDO:equivalentTo", source="DOID:6110", source="NCIT:C5293"}
is_a: MONDO:0016642 {source="DOID:6110", source="MONDO:Redundant", source="MONDOLEX:0003771", source="NCIT:C5293/inferred"} ! meningioma (disease)
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:6110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334298
property_value: exactMatch NCIT:C5293

[Term]
id: MONDO:0003772
name: cerebral meningioma
def: "A meningioma that affects the cerebral hemispheres." [NCIT:P378]
synonym: "cerebral hemispheric meningioma" EXACT [NCIT:C4807]
synonym: "meningioma (disease) of telencephalon" EXACT []
synonym: "meningioma of cerebral hemispheres" EXACT [NCIT:C4807]
synonym: "meningioma of cerebrum" EXACT [DOID:6112, NCIT:C4807]
synonym: "meningioma of the cerebral hemispheres" EXACT [NCIT:C4807]
synonym: "meningioma of the cerebrum" EXACT [NCIT:C4807]
synonym: "telencephalon meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6112 {source="MONDO:equivalentTo"}
xref: NCIT:C4807 {source="MONDO:equivalentTo", source="DOID:6112", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:189164002 {source="MONDO:equivalentTo", source="DOID:6112", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0542564 {source="NCIT:C4807", source="MONDO:equivalentTo", source="DOID:6112"}
is_a: MONDO:0000642 {source="DOID:6112", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain meningioma
is_a: MONDO:0002731 {source="DOID:6112", source="MONDO:Entailed"} ! cerebral hemisphere cancer
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: exactMatch DOID:6112
property_value: exactMatch http://identifiers.org/snomedct/189164002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0542564
property_value: exactMatch NCIT:C4807

[Term]
id: MONDO:0003773
name: intracerebral cystic meningioma
def: "A cystic meningioma that grows within the cerebral hemispheres." [NCIT:P378]
xref: DOID:6113 {source="MONDO:equivalentTo"}
xref: NCIT:C5269 {source="DOID:6113", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334236 {source="DOID:6113", source="MONDO:equivalentTo", source="NCIT:C5269"}
is_a: MONDO:0003772 {source="DOID:6113", source="NCIT:C5269"} ! cerebral meningioma
property_value: exactMatch DOID:6113
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334236
property_value: exactMatch NCIT:C5269

[Term]
id: MONDO:0003774
name: cerebral convexity meningioma
def: "A meningioma that affects the cerebral sulcus." [NCIT:P378]
synonym: "cerebral hemispheric convexity meningioma" EXACT [DOID:6114, NCIT:C4959]
xref: DOID:6114 {source="MONDO:equivalentTo"}
xref: NCIT:C4959 {source="DOID:6114", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751303 {source="DOID:6114", source="NCIT:C4959", source="MONDO:equivalentTo"}
is_a: MONDO:0003772 {source="DOID:6114", source="NCIT:C4959"} ! cerebral meningioma
property_value: exactMatch DOID:6114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751303
property_value: exactMatch NCIT:C4959

[Term]
id: MONDO:0003775
name: lateral ventricle meningioma
def: "A meningioma that affects the lateral ventricle of the brain." [NCIT:P378]
synonym: "meningioma (disease) of telencephalic ventricle" EXACT []
synonym: "meningioma of lateral ventricle" EXACT [NCIT:C5302]
synonym: "meningioma of the lateral ventricle" EXACT [DOID:6115, NCIT:C5302]
synonym: "telencephalic ventricle meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6115 {source="MONDO:equivalentTo"}
xref: NCIT:C5302 {source="DOID:6115", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334380 {source="DOID:6115", source="MONDO:equivalentTo", source="NCIT:C5302"}
is_a: MONDO:0002772 {source="DOID:6115", source="MONDO:Redundant", source="NCIT:C5302"} ! intraventricular meningioma
is_a: MONDO:0003772 ! cerebral meningioma
property_value: exactMatch DOID:6115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334380
property_value: exactMatch NCIT:C5302

[Term]
id: MONDO:0003776
name: renal pelvis inverted papilloma
def: "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue." [NCIT:C6187]
synonym: "inverted papilloma of kidney pelvis" EXACT [NCIT:C6187]
synonym: "inverted papilloma of renal pelvis" EXACT [NCIT:C6187]
synonym: "inverted papilloma of the kidney pelvis" EXACT [DOID:6118, NCIT:C6187]
synonym: "inverted papilloma of the renal pelvis" EXACT [NCIT:C6187]
synonym: "kidney pelvis inverted papilloma" EXACT [NCIT:C6187]
synonym: "renal pelvis inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6187]
xref: DOID:6118 {source="MONDO:equivalentTo"}
xref: NCIT:C6187 {source="DOID:6118", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335751 {source="NCIT:C6187", source="DOID:6118", source="MONDO:equivalentTo"}
is_a: MONDO:0003777 {source="DOID:6118", source="MONDO:Redundant", source="NCIT:C6187"} ! renal pelvis urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6187", source="indirect"} ! inverted urothelial papilloma
property_value: exactMatch DOID:6118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335751
property_value: exactMatch NCIT:C6187

[Term]
id: MONDO:0003777
name: renal pelvis urothelial papilloma
def: "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C4528]
synonym: "renal pelvis urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C4528]
xref: DOID:6119 {source="MONDO:equivalentTo"}
xref: NCIT:C4528 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:6119", source="exact-label-match"}
xref: UMLS:C1514844 {source="MONDO:equivalentTo", source="DOID:6119", source="NCIT:C4528"}
is_a: MONDO:0003717 {source="DOID:6119", source="NCIT:C4528"} ! renal pelvis papillary tumor
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C4528", source="indirect"} ! urothelial papilloma
is_a: MONDO:0021467 {source="MONDO:Redundant", source="NCIT:C4528"} ! benign neoplasm of renal pelvis
property_value: exactMatch DOID:6119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514844
property_value: exactMatch NCIT:C4528

[Term]
id: MONDO:0003778
name: primary immunodeficiency disease
def: "A disorder in which the immune system is unable to mount an adequate immune response." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:101997"}
synonym: "antibody deficiency syndrome" RELATED [MESH:D007153]
synonym: "antibody deficiency syndromes" RELATED [MESH:D007153]
synonym: "deficiency syndrome, antibody" RELATED [MESH:D007153]
synonym: "deficiency syndrome, immunologic" RELATED [MESH:D007153]
synonym: "deficiency syndrome, immunological" RELATED [MESH:D007153]
synonym: "deficiency syndromes, antibody" RELATED [MESH:D007153]
synonym: "deficiency syndromes, immunologic" RELATED [MESH:D007153]
synonym: "deficiency syndromes, immunological" RELATED [MESH:D007153]
synonym: "hypoimmunity" EXACT [CSP2005:1553-9570, DOID:612]
synonym: "immune deficiency disorder" EXACT [CSP2005:1560-5885, DOID:612]
synonym: "immunodeficiency syndrome" EXACT [DOID:612, NCIT:C3131]
synonym: "immunologic deficiency syndrome" RELATED [MESH:D007153]
synonym: "immunological deficiency syndrome" RELATED [MESH:D007153]
synonym: "immunological deficiency syndromes" RELATED [MESH:D007153]
synonym: "primary immunodeficiency" RELATED [Orphanet:101997]
synonym: "syndrome, antibody deficiency" RELATED [MESH:D007153]
synonym: "syndrome, immunologic deficiency" RELATED [MESH:D007153]
synonym: "syndrome, immunological deficiency" RELATED [MESH:D007153]
synonym: "syndromes, antibody deficiency" RELATED [MESH:D007153]
synonym: "syndromes, immunologic deficiency" RELATED [MESH:D007153]
synonym: "syndromes, immunological deficiency" RELATED [MESH:D007153]
xref: DOID:612 {source="MONDO:equivalentTo"}
xref: ICD10:D84.9 {source="DOID:612"}
xref: ICD9:279.3 {source="DOID:612", source="MONDO:directSiblingOf"}
xref: KEGG:05340 {source="DOID:612", source="MONDO:equivalentTo"}
xref: MESH:D007153 {source="DOID:612", source="MONDO:equivalentTo"}
xref: Orphanet:101997 {source="MONDO:EquivalentTo"}
xref: SCTID:58606001 {source="MONDO:EquivalentTo"}
xref: UMLS:C0021051 {source="DOID:612", source="MONDO:equivalentTo"}
xref: UMLS:C0398686 {source="MONDO:EquivalentTo", source="Orphanet:101997", source="MONDO:notFoundInDiseaseSubset"}
is_a: MONDO:0009453 {source="https://github.com/monarch-initiative/mondo/issues/1143"} ! immune deficiency disease
relationship: excluded_subClassOf MONDO:0005046 {source="DOID:612", source="MESH:D007153"} ! immune system disease
property_value: closeMatch http://identifiers.org/snomedct/191005003
property_value: closeMatch http://identifiers.org/snomedct/64431000
property_value: exactMatch DOID:612
property_value: exactMatch http://identifiers.org/mesh/D007153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021051
property_value: exactMatch NCIT:C39725

[Term]
id: MONDO:0003779
name: obsolete gliomatosis cerebri
is_obsolete: true
replaced_by: MONDO:0016683

[Term]
id: MONDO:0003780
name: T-cell immunodeficiency
def: "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27145]
synonym: "T lymphocyte deficiency" RELATED [DOID:613]
synonym: "T-cell immunodeficiency" EXACT [DOID:613, NCIT:C27145]
synonym: "T-lymphocyte deficiency" EXACT EXCLUDE [DOID:613]
synonym: "T-lymphocyte deficiency (finding)" EXACT [DOID:613]
synonym: "T-lymphocyte immunodeficiency" EXACT [DOID:613]
xref: DOID:613 {source="MONDO:equivalentTo"}
xref: NCIT:C27145 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"}
xref: SCTID:402792003 {source="DOID:613", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1274233 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="MONDOLEX:0003780", source="NCIT:C27145", source="linkedlifedata"} ! immunodeficiency disease
property_value: exactMatch DOID:613
property_value: exactMatch http://identifiers.org/snomedct/402792003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274233
property_value: exactMatch NCIT:C27145

[Term]
id: MONDO:0003781
name: bronchitis
def: "An acute or chronic inflammatory process affecting the bronchi." [NCIT:C2911]
synonym: "acute bronchitis" NARROW [DOID:6132, NCIT:C26932]
synonym: "acute bronchitis and bronchiolitis" RELATED [DOID:6132]
synonym: "bronchial infection" EXACT [NCIT:C2911]
synonym: "bronchus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chest cold" RELATED [DOID:6132]
synonym: "chest infection" RELATED [DOID:6132]
synonym: "chronic bronchitis" NARROW [DOID:6132]
synonym: "CI - chest infection" EXACT [DOID:6132]
synonym: "inflammation of bronchus" EXACT []
synonym: "recurrent wheezy bronchitis" RELATED [DOID:6132]
xref: COHD:256451 {source="MONDO:equivalentTo"}
xref: CSP:2596-1500 {source="DOID:6132"}
xref: DOID:6132 {source="MONDO:equivalentTo"}
xref: ICD10:J20 {source="DOID:6132"}
xref: ICD10:J20.9 {source="DOID:6132"}
xref: ICD10:J40 {source="DOID:6132"}
xref: ICD10:J42 {source="DOID:6132"}
xref: ICD9:466.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:6132"}
xref: ICD9:490 {source="DOID:6132"}
xref: ICD9:491 {source="DOID:6132"}
xref: ICD9:491.9 {source="MONDO:superClassOf", source="DOID:6132"}
xref: MESH:D001991 {source="MONDO:equivalentTo", source="DOID:6132"}
xref: NCIT:C2911 {source="MONDO:equivalentTo", source="DOID:6132", source="exact-label-match"}
xref: SCTID:32398004 {source="MONDO:equivalentTo", source="DOID:6132"}
xref: UMLS:C0006277 {source="MONDO:equivalentTo", source="DOID:6132", source="NCIT:C2911"}
is_a: MONDO:0001358 {source="DOID:6132", source="MESH:D001991", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bronchial disease
is_a: MONDO:0021925 ! tracheobronchitis
property_value: closeMatch http://identifiers.org/mesh/D029481
property_value: closeMatch http://identifiers.org/snomedct/10509002
property_value: closeMatch http://identifiers.org/snomedct/155512004
property_value: closeMatch http://identifiers.org/snomedct/155515002
property_value: closeMatch http://identifiers.org/snomedct/155566007
property_value: closeMatch http://identifiers.org/snomedct/155572007
property_value: closeMatch http://identifiers.org/snomedct/155616009
property_value: closeMatch http://identifiers.org/snomedct/195713004
property_value: closeMatch http://identifiers.org/snomedct/195733000
property_value: closeMatch http://identifiers.org/snomedct/195936003
property_value: closeMatch http://identifiers.org/snomedct/195940007
property_value: closeMatch http://identifiers.org/snomedct/195956002
property_value: closeMatch http://identifiers.org/snomedct/266354009
property_value: closeMatch http://identifiers.org/snomedct/266380005
property_value: closeMatch http://identifiers.org/snomedct/266395007
property_value: closeMatch http://identifiers.org/snomedct/35301006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149514
property_value: closeMatch NCIT:C26932
property_value: exactMatch DOID:6132
property_value: exactMatch http://identifiers.org/mesh/D001991
property_value: exactMatch http://identifiers.org/snomedct/32398004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006277
property_value: exactMatch NCIT:C2911

[Term]
id: MONDO:0003782
name: uterine corpus epithelioid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." [NCIT:C40174]
comment: Editor note: check ONCOTREE mapping
synonym: "body of uterus epithelioid leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "epithelioid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus epithelioid leiomyosarcoma" EXACT [NCIT:C40174]
synonym: "uterine epithelioid leiomyosarcoma" RELATED [ONCOTREE:UELMS]
xref: DOID:6139 {source="MONDO:equivalentTo"}
xref: NCIT:C40174 {source="DOID:6139", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:UELMS {source="MONDO:equivalentTo"}
xref: UMLS:C1519851 {source="DOID:6139", source="MONDO:equivalentTo", source="NCIT:C40174"}
is_a: MONDO:0003356 {source="DOID:6139", source="MONDO:Redundant", source="MONDOLEX:0003782", source="NCIT:C40174"} ! epithelioid leiomyosarcoma
is_a: MONDO:0016262 {source="DOID:6139", source="MONDO:Redundant", source="NCIT:C40174"} ! leiomyosarcoma of the corpus uteri
property_value: exactMatch DOID:6139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519851
property_value: exactMatch NCIT:C40174

[Term]
id: MONDO:0003783
name: lymphopenia (disease)
def: "Reduction in the number of lymphocytes." [MESH:D008231]
synonym: "lymphocytopenia" EXACT [DOID:614, MTHICD9_2006:288.8]
synonym: "lymphopenia" EXACT [MONDO:ambiguous]
xref: COHD:441541 {source="MONDO:equivalentTo"}
xref: DOID:614 {source="MONDO:equivalentTo"}
xref: HP:0001888 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D72.810 {source="DOID:614", source="MONDO:equivalentTo"}
xref: ICD9:288.51 {source="DOID:614", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008231 {source="DOID:614", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:48813009 {source="DOID:614", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0024312 {source="DOID:614", source="MONDO:equivalentTo"}
is_a: MONDO:0003785 {source="DOID:614", source="MESH:D008231"} ! leukopenia
property_value: exactMatch DOID:614
property_value: exactMatch http://identifiers.org/mesh/D008231
property_value: exactMatch http://identifiers.org/snomedct/48813009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024312

[Term]
id: MONDO:0003784
name: nasal cavity carcinoma in situ
def: "A in situ carcinoma that involves the nasal cavity." [MONDO:patterns/location]
synonym: "carcinoma in situ of nasal cavities" EXACT [DOID:6148, MTHICD9_2006:231.8]
synonym: "carcinoma in situ of nasal cavity" EXACT [DOID:6148, MONDO:patterns/carcinoma_in_situ, NCIT:C4589]
synonym: "carcinoma in situ of the nasal cavity" EXACT [NCIT:C4589]
synonym: "nasal cavity carcinoma in situ" EXACT [NCIT:C4589]
synonym: "nasal cavity in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of nasal cavity" EXACT [NCIT:C4589]
synonym: "stage 0 carcinoma of the nasal cavity" EXACT [DOID:6148, NCIT:C4589]
synonym: "stage 0 nasal cavity cancer" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity cancer aJCC v6, v7, and v8" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v6" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v7" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v8" EXACT [NCIT:C4589]
xref: DOID:6148 {source="MONDO:equivalentTo"}
xref: ICD10:D02.3 {source="DOID:6148"}
xref: ICD9:231.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4589 {source="DOID:6148", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:92663007 {source="DOID:6148", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0347095 {source="DOID:6148", source="MONDO:equivalentTo", source="NCIT:C4589"}
is_a: MONDO:0003212 {source="MONDO:Redundant", source="MONDOLEX:0003784", source="NCIT:C4589", source="OWLReasoner:2017"} ! nasal cavity carcinoma
is_a: MONDO:0004647 {source="DOID:6148", source="MONDO:Redundant", source="MONDOLEX:0003784", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
property_value: exactMatch DOID:6148
property_value: exactMatch http://identifiers.org/snomedct/92663007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347095
property_value: exactMatch NCIT:C4589

[Term]
id: MONDO:0003785
name: leukopenia
def: "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." [NCIT:P378]
synonym: "leucopenia" EXACT [DOID:615]
synonym: "leukocytopenia" EXACT [NCIT:C26816]
synonym: "White blood cell decreased" EXACT [NCIT:C26816]
xref: COHD:435224 {source="MONDO:equivalentTo"}
xref: DOID:615 {source="MONDO:equivalentTo"}
xref: EFO:0004233 {source="MONDO:equivalentTo"}
xref: ICD10:D72.819 {source="DOID:615"}
xref: ICD9:288.50 {source="DOID:615", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007970 {source="DOID:615", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26816 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: SCTID:84828003 {source="DOID:615", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0023530 {source="DOID:615", source="MONDO:equivalentTo"}
is_a: MONDO:0004805 {source="DOID:615", source="MESH:D007970", source="linkedlifedata"} ! leukocyte disease
property_value: closeMatch http://identifiers.org/snomedct/142917003
property_value: closeMatch http://identifiers.org/snomedct/191348003
property_value: exactMatch DOID:615
property_value: exactMatch http://identifiers.org/mesh/D007970
property_value: exactMatch http://identifiers.org/snomedct/84828003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023530
property_value: exactMatch NCIT:C26816

[Term]
id: MONDO:0003786
name: childhood testicular choriocarcinoma
def: "A choriocarcinoma that arises from the testis during childhood." [NCIT:C6544]
synonym: "childhood choriocarcinoma of testis" EXACT [NCIT:C6544]
synonym: "childhood choriocarcinoma of the testis" EXACT [NCIT:C6544]
synonym: "childhood testicular choriocarcinoma" EXACT [NCIT:C6544]
synonym: "choriocarcinoma of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choriocarcinoma of testis" EXACT [MONDO:patterns/childhood, NCIT:C6544]
synonym: "pediatric choriocarcinoma of testis" RELATED [MONDO:patterns/childhood]
synonym: "pediatric choriocarcinoma of the testis" EXACT [NCIT:C6544]
synonym: "pediatric testicular choriocarcinoma" EXACT [DOID:6160, NCIT:C6544]
xref: DOID:6160 {source="MONDO:equivalentTo"}
xref: NCIT:C6544 {source="MONDO:kboom-pr-1.00/0.91/11.10", source="MONDO:equivalentTo", source="DOID:6160"}
xref: UMLS:C1333006 {source="MONDO:equivalentTo", source="NCIT:C6544", source="DOID:6160"}
is_a: MONDO:0003508 {source="DOID:6160", source="MONDO:Redundant", source="MONDOLEX:0003786", source="NCIT:C6544"} ! choriocarcinoma of testis
is_a: MONDO:0003758 ! childhood testicular germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
property_value: exactMatch DOID:6160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333006
property_value: exactMatch NCIT:C6544

[Term]
id: MONDO:0003787
name: childhood testicular mixed germ cell cancer
def: "A malignant mixed germ cell neoplasm that arises from the testis during childhood." [NCIT:C6542]
synonym: "childhood mixed testicular germ cell cancer" EXACT [MONDO:design_pattern]
synonym: "childhood testicular mixed germ cell neoplasm" RELATED [NCIT:C6542]
synonym: "childhood testicular mixed germ cell tumor" RELATED [NCIT:C6542]
synonym: "mixed testicular germ cell cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mixed testicular germ cell cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mixed testicular germ cell cancer" RELATED [MONDO:patterns/childhood]
synonym: "pediatric testicular mixed germ cell neoplasm" RELATED [NCIT:C6542]
synonym: "pediatric testicular mixed germ cell tumor" RELATED [DOID:6161, NCIT:C6542]
xref: DOID:6161 {source="MONDO:equivalentTo"}
xref: NCIT:C6542 {source="MONDO:kboom-pr-1.00/0.93/29.66", source="MONDO:equivalentTo", source="DOID:6161"}
xref: UMLS:C1333009 {source="NCIT:C6542", source="MONDO:equivalentTo", source="DOID:6161"}
is_a: MONDO:0003120 {source="DOID:6161", source="MONDO:Redundant", source="MONDOLEX:0003787", source="NCIT:C6542"} ! mixed testicular germ cell cancer
is_a: MONDO:0003758 ! childhood testicular germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
property_value: exactMatch DOID:6161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333009
property_value: exactMatch NCIT:C6542

[Term]
id: MONDO:0003788
name: childhood embryonal testis carcinoma
def: "An embryonal carcinoma that arises from the testis during childhood." [NCIT:C6545]
synonym: "childhood embryonal carcinoma of testis" EXACT [NCIT:C6545]
synonym: "childhood embryonal carcinoma of the testis" EXACT [DOID:6162, NCIT:C6545]
synonym: "childhood testicular embryonal carcinoma" EXACT [NCIT:C6545]
synonym: "pediatric embryonal carcinoma of testis" EXACT [NCIT:C6545]
synonym: "pediatric embryonal carcinoma of the testis" EXACT [NCIT:C6545]
synonym: "pediatric testicular embryonal carcinoma" EXACT [DOID:6162, MONDO:patterns/childhood, NCIT:C6545]
synonym: "pediatric testicular embryonal carcinoma" RELATED [MONDO:patterns/childhood]
synonym: "testicular embryonal carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6162 {source="MONDO:equivalentTo"}
xref: NCIT:C6545 {source="MONDO:kboom-pr-1.00/0.91/13.24", source="MONDO:equivalentTo", source="DOID:6162"}
xref: UMLS:C1333007 {source="MONDO:equivalentTo", source="NCIT:C6545", source="DOID:6162"}
is_a: MONDO:0003758 ! childhood testicular germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0006446 {source="DOID:6162", source="MONDO:Redundant", source="MONDOLEX:0003788", source="NCIT:C6545"} ! testicular embryonal carcinoma
property_value: exactMatch DOID:6162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333007
property_value: exactMatch NCIT:C6545

[Term]
id: MONDO:0003789
name: hereditary papillary renal cell carcinoma
def: "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." [NCIT:C9222]
synonym: "familial renal papillary carcinoma" EXACT [NCIT:C9222]
synonym: "hereditary kidney papillary carcinoma" EXACT [NCIT:C9222]
synonym: "hereditary papillary carcinoma of kidney" EXACT [NCIT:C9222]
synonym: "hereditary papillary carcinoma of the kidney" EXACT [NCIT:C9222]
synonym: "hereditary papillary renal carcinoma" EXACT [DOID:6163, NCIT:C9222]
synonym: "Hereditary Papillary renal cell cancer" EXACT [NCIT:C9222]
synonym: "hereditary papillary renal cell carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C9222]
xref: DOID:6163 {source="MONDO:equivalentTo"}
xref: NCIT:C9222 {source="MONDO:equivalentTo", source="DOID:6163", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:715561008 {source="MONDO:equivalentTo"}
xref: UMLS:C0879257 {source="NCIT:C9222", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6163"}
is_a: MONDO:0003008 {source="DOID:6163", source="MONDO:Redundant", source="NCIT:C9222"} ! hereditary renal cell carcinoma
is_a: MONDO:0017884 {source="MONDO:Redundant", source="MONDOLEX:0003789", source="NCIT:C9222"} ! papillary renal cell carcinoma
intersection_of: MONDO:0017884 ! papillary renal cell carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:6163
property_value: exactMatch http://identifiers.org/snomedct/715561008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0879257
property_value: exactMatch NCIT:C9222

[Term]
id: MONDO:0003790
name: prostatic urethra urothelial carcinoma
def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." [NCIT:C39900]
synonym: "prostatic urethra urothelial carcinoma" EXACT [NCIT:C39900]
xref: DOID:6166 {source="MONDO:equivalentTo"}
xref: NCIT:C39900 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6166"}
xref: UMLS:C1514522 {source="MONDO:equivalentTo", source="NCIT:C39900", source="DOID:6166"}
is_a: MONDO:0002834 {source="NCIT:C39900"} ! primary prostate urothelial carcinoma
is_a: MONDO:0002836 {source="MONDO:Redundant", source="NCIT:C39900"} ! urethra transitional cell carcinoma
is_a: MONDO:0003791 {source="DOID:6166", source="NCIT:C39900"} ! prostatic urethral cancer
property_value: exactMatch DOID:6166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514522
property_value: exactMatch NCIT:C39900

[Term]
id: MONDO:0003791
name: prostatic urethral cancer
def: "A male urethral cancer that involves the prostatic urethra." [MONDO:patterns/location]
synonym: "male urethral cancer of prostatic urethra" EXACT [MONDO:design_pattern]
synonym: "prostatic urethra male urethral cancer" EXACT [MONDO:patterns/location]
synonym: "prostatic urethral malignant neoplasm" EXACT [NCIT:C39870]
xref: DOID:6167 {source="MONDO:equivalentTo"}
xref: NCIT:C39870 {source="MONDO:equivalentTo", source="DOID:6167"}
xref: UMLS:C1514523 {source="NCIT:C39870", source="MONDO:equivalentTo", source="DOID:6167"}
is_a: MONDO:0004197 {source="DOID:6167", source="MONDO:Redundant", source="MONDOLEX:0003791", source="NCIT:C39870"} ! male urethral cancer
property_value: exactMatch DOID:6167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514523
property_value: exactMatch NCIT:C39870

[Term]
id: MONDO:0003792
name: ovarian carcinosarcoma
alt_id: MONDO:0016247
def: "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." [NCIT:C9192]
subset: ordo_disease {source="Orphanet:213512"}
synonym: "carcinosarcoma of ovary" EXACT [NCIT:C9192]
synonym: "carcinosarcoma of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian neoplasm of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian neoplasm of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian tumor of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian tumor of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian neoplasm of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian neoplasm of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian tumor of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian tumor of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [Orphanet:213512]
synonym: "MMMT of the ovary" EXACT [Orphanet:213512]
synonym: "ovarian carcinosarcoma" EXACT [MONDO:0006331, NCIT:C9192, Orphanet:213512]
synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumor" RELATED [ONCOTREE:OCS]
synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170]
synonym: "ovarian malignant mesodermal (Müllerian) mixed tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT [Orphanet:213512]
synonym: "ovarian malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Mullerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Mullerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Müllerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Müllerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Mullerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192, Orphanet:213512]
synonym: "ovarian malignant mixed Müllerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192]
synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6170 {source="MONDO:equivalentTo"}
xref: EFO:1000412 {source="MONDO:equivalentTo"}
xref: GARD:0007296 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C56 {source="Orphanet:213512", source="ORDO:213512/ntbt"}
xref: NCIT:C9192 {source="DesignPattern", source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"}
xref: ONCOTREE:OCS {source="MONDO:equivalentTo"}
xref: Orphanet:213512 {source="MONDO:equivalentTo"}
xref: SCTID:702368000 {source="DesignPattern", source="DOID:6170", source="MONDO:equivalentTo"}
xref: UMLS:C0392998 {source="MEDGEN:kboom-pr98-c99", source="MONDO:relatedTo", source="Orphanet:213512", source="DOID:6170", source="MONDO:equivalentTo", source="NCIT:C9192"}
is_a: MONDO:0002928 {source="MONDO:Redundant", source="MONDOLEX:0003792", source="NCIT:C9192/inferred"} ! carcinosarcoma
is_a: MONDO:0003812 {source="NCIT:C9192"} ! ovarian endometrial cancer
is_a: MONDO:0005140 {source="EFO:1000412", source="MONDO:Redundant"} ! ovarian carcinoma
property_value: exactMatch DOID:6170
property_value: exactMatch http://identifiers.org/snomedct/702368000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392998
property_value: exactMatch NCIT:C9192
property_value: exactMatch Orphanet:213512

[Term]
id: MONDO:0003793
name: obsolete uterine carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006485

[Term]
id: MONDO:0003794
name: obsolete mediastinal neurilemmoma
is_obsolete: true
replaced_by: MONDO:0004398

[Term]
id: MONDO:0003795
name: ovarian small cell carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." [NCIT:C27390]
subset: ordo_disease {source="Orphanet:370396"}
synonym: "ovarian small cell cancer" EXACT [NCIT:C27390]
synonym: "ovarian small cell carcinoma" EXACT [MONDO:0006341, NCIT:C27390]
synonym: "ovarian small cell NEC" EXACT [NCIT:C27390]
synonym: "ovarian small cell neuroendocrine carcinoma" EXACT [NCIT:C27390]
synonym: "ovary small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "SCCO" EXACT [Orphanet:370396]
synonym: "small cell carcinoma of ovary" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272]
synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396]
xref: DOID:6179 {source="MONDO:equivalentTo"}
xref: EFO:1000431 {source="MONDO:equivalentTo"}
xref: GARD:0010411 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:370396/ntbt", source="Orphanet:370396"}
xref: NCIT:C27390 {source="DOID:6179", source="MONDO:equivalentTo", source="EFO:1000431"}
xref: ONCOTREE:SCCO {source="MONDO:equivalentTo"}
xref: Orphanet:370396 {source="MONDO:equivalentTo"}
xref: UMLS:C2212006 {source="MONDO:equivalentTo", source="NCIT:C27390"}
is_a: MONDO:0000402 ! small cell carcinoma
is_a: MONDO:0002481 ! ovarian neuroendocrine neoplasm
is_a: MONDO:0005140 {source="DOID:6179", source="EFO:1000431", source="MONDO:Entailed", source="MONDOLEX:0003795", source="NCIT:C27390", source="OWLReasoner:2017"} ! ovarian carcinoma
property_value: exactMatch DOID:6179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2212006
property_value: exactMatch NCIT:C27390
property_value: exactMatch Orphanet:370396

[Term]
id: MONDO:0003796
name: rectum Kaposi sarcoma
def: "A Kaposi sarcoma arising from the rectum." [NCIT:C5550]
synonym: "Kaposi's sarcoma (disease) of rectum" EXACT []
synonym: "Kaposi's sarcoma of rectum" EXACT [DOID:6190, NCIT:C5550]
synonym: "Kaposi's sarcoma of the rectum" EXACT [NCIT:C5550]
synonym: "rectal Kaposi sarcoma" EXACT [NCIT:C5550]
synonym: "rectal Kaposi's sarcoma" EXACT [NCIT:C5550]
synonym: "rectum Kaposi sarcoma" EXACT [DOID:6190]
synonym: "rectum Kaposi's sarcoma" RELATED [DOID:6190]
synonym: "rectum Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6190 {source="MONDO:equivalentTo"}
xref: NCIT:C5550 {source="DOID:6190", source="MONDO:equivalentTo"}
xref: UMLS:C1335681 {source="NCIT:C5550", source="DOID:6190", source="MONDO:equivalentTo"}
is_a: MONDO:0002168 {source="DOID:6190", source="MONDO:Redundant", source="MONDOLEX:0003796", source="NCIT:C5550"} ! rectum sarcoma
is_a: MONDO:0024659 ! colorectal Kaposi sarcoma
property_value: exactMatch DOID:6190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335681
property_value: exactMatch NCIT:C5550

[Term]
id: MONDO:0003797
name: obsolete inflammatory MFH
is_obsolete: true
replaced_by: MONDO:0006480

[Term]
id: MONDO:0003798
name: obsolete epithelioid sarcoma
is_obsolete: true
replaced_by: MONDO:0017387

[Term]
id: MONDO:0003799
name: conjunctivitis (disease)
def: "Inflammation of the conjunctiva of the eye." [NCIT:P378]
synonym: "conjunctiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "conjunctivitis" EXACT [MONDO:ambiguous]
synonym: "inflammation of conjunctiva" EXACT []
synonym: "Madras eye" RELATED [DOID:6195]
synonym: "pink eye" EXACT [NCIT:C34504]
xref: COHD:379019 {source="MONDO:equivalentTo"}
xref: DOID:6195 {source="MONDO:equivalentTo"}
xref: HP:0000509 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H10 {source="DOID:6195"}
xref: ICD10:H10.9 {source="DOID:6195"}
xref: ICD9:372.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:6195"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003231 {source="MONDO:equivalentTo", source="DOID:6195", source="MONDO:ontobio"}
xref: NCIT:C34504 {source="MONDO:equivalentTo", source="DOID:6195", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: SCTID:9826008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:6195"}
xref: UMLS:C0009763 {source="MONDO:equivalentTo", source="DOID:6195", source="NCIT:C34504"}
is_a: MONDO:0006170 {source="DOID:6195", source="MESH:D003231", source="MONDO:Redundant", source="linkedlifedata"} ! conjunctival disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/193857008
property_value: closeMatch http://identifiers.org/snomedct/193858003
property_value: closeMatch http://identifiers.org/snomedct/193875009
property_value: exactMatch DOID:6195
property_value: exactMatch http://identifiers.org/mesh/D003231
property_value: exactMatch http://identifiers.org/snomedct/9826008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009763
property_value: exactMatch NCIT:C34504

[Term]
id: MONDO:0003800
name: conventional malignant hemangiopericytoma
def: "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity." [NCIT:C9425]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "conventional malignant hemangiopericytoma" EXACT [NCIT:C9425]
xref: DOID:6197 {source="MONDO:equivalentTo"}
xref: NCIT:C9425 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6197"}
xref: UMLS:C1333158 {source="MONDO:equivalentTo", source="NCIT:C9425", source="DOID:6197"}
is_a: MONDO:0009330 {source="MONDOLEX:0003800", source="NCIT:C9425"} ! hemangiopericytoma, malignant
property_value: exactMatch DOID:6197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333158
property_value: exactMatch NCIT:C9425

[Term]
id: MONDO:0003801
name: corneal intraepithelial neoplasm
def: "A squamous cell intraepithelial neoplasia that involves the cornea." [MONDO:patterns/location]
synonym: "cornea intraepithelial neoplasia" EXACT [NCIT:C6093]
synonym: "cornea squamous cell intraepithelial neoplasia" EXACT [MONDO:patterns/location]
synonym: "corneal intraepithelial neoplasia" EXACT [NCIT:C6093]
synonym: "intraepithelial neoplasia of cornea" EXACT [NCIT:C6093]
synonym: "intraepithelial neoplasia of the cornea" EXACT [NCIT:C6093]
xref: DOID:6198 {source="MONDO:equivalentTo"}
xref: NCIT:C6093 {source="MONDO:equivalentTo", source="DOID:6198"}
xref: SCTID:420835009 {source="MONDO:equivalentTo", source="DOID:6198"}
xref: UMLS:C1333159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6198", source="NCIT:C6093"}
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C6093"} ! cornea neoplasm
is_a: MONDO:0024475 {source="MONDO:Redundant", source="MONDOLEX:0003801", source="NCIT:C6093"} ! squamous cell intraepithelial neoplasia
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:6198"} ! pre-malignant neoplasm
property_value: exactMatch DOID:6198
property_value: exactMatch http://identifiers.org/snomedct/420835009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333159
property_value: exactMatch NCIT:C6093

[Term]
id: MONDO:0003802
name: cornea cancer
def: "A malignant neoplasm involving the cornea." [MONDO:DesignPattern]
synonym: "cancer of cornea" EXACT [MONDO:patterns/cancer]
synonym: "cornea cancer" EXACT [MONDO:patterns/location]
synonym: "corneal tumor" EXACT [DOID:6199, NCIT:C4361]
synonym: "malignant cornea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3565]
synonym: "malignant cornea tumor" EXACT [NCIT:C3565]
synonym: "malignant corneal neoplasm" EXACT [NCIT:C3565]
synonym: "malignant corneal tumor" EXACT [DOID:6199, NCIT:C3565]
synonym: "malignant neoplasm of cornea" EXACT [DOID:6199, MONDO:patterns/cancer, NCIT:C3565]
synonym: "malignant neoplasm of cornea (primary)" EXACT [DOID:6199]
synonym: "malignant neoplasm of the cornea" EXACT [NCIT:C3565]
synonym: "malignant tumor of cornea" EXACT [NCIT:C3565]
synonym: "malignant tumor of the cornea" EXACT [NCIT:C3565]
synonym: "neoplasm of cornea" EXACT EXCLUDE [DOID:6199]
xref: COHD:375490 {source="MONDO:equivalentTo"}
xref: DOID:6199 {source="MONDO:equivalentTo"}
xref: ICD10:C69.1 {source="DOID:6199"}
xref: ICD9:190.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:6199"}
xref: NCIT:C3565 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:6199"}
xref: SCTID:363464006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.69/0.64", source="DOID:6199"}
xref: UMLS:C0153629 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3565", source="DOID:6199"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0002236 {source="DOID:6199", source="MONDO:Redundant", source="NCIT:C3565", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular cancer
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C3565"} ! cornea neoplasm
property_value: closeMatch http://identifiers.org/snomedct/126997008
property_value: closeMatch http://identifiers.org/snomedct/93766000
property_value: exactMatch DOID:6199
property_value: exactMatch http://identifiers.org/snomedct/363464006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153629
property_value: exactMatch NCIT:C3565

[Term]
id: MONDO:0003803
name: aortic valve disease
def: "A disease involving the aortic valve." [MONDO:DesignPattern]
synonym: "aortic valve disease" EXACT [MONDO:patterns/location]
synonym: "aortic valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic valve disorder" EXACT [NCIT:C78650]
synonym: "disease of aortic valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of aortic valve" EXACT []
synonym: "disorder of aortic valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of aortic valve" RELATED [MONDO:patterns/location_top]
xref: DOID:62 {source="MONDO:equivalentTo"}
xref: ICD9:395 {source="DOID:62"}
xref: ICD9:424.1 {source="DOID:62"}
xref: NCIT:C78650 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.09", source="DOID:62"}
xref: UMLS:C1260873 {source="MONDO:equivalentTo", source="NCIT:C78650", source="DOID:62", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002869 {source="DOID:62", source="MONDO:Redundant", source="NCIT:C78650"} ! heart valve disease
is_a: MONDO:0005561 {source="MONDO:cjm"} ! aortic disease
is_a: MONDO:0045001 ! cardiac ventricle disease
property_value: closeMatch http://identifiers.org/mesh/C563178
property_value: closeMatch http://identifiers.org/snomedct/194988001
property_value: closeMatch http://identifiers.org/snomedct/8722008
property_value: exactMatch DOID:62
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260873
property_value: exactMatch NCIT:C78650

[Term]
id: MONDO:0003804
name: blood protein disease
synonym: "blood Protein disorder" RELATED [MESH:D001796]
synonym: "blood protein disorder" EXACT [CSP2005:0449-0541, DOID:620]
synonym: "disorder, blood Protein" RELATED [MESH:D001796]
synonym: "disorders, blood Protein" RELATED [MESH:D001796]
synonym: "Protein disorder, blood" RELATED [MESH:D001796]
synonym: "Protein disorders, blood" RELATED [MESH:D001796]
xref: DOID:620 {source="MONDO:equivalentTo"}
xref: MESH:D001796 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:620"}
xref: UMLS:C0005830 {source="MONDO:equivalentTo", source="DOID:620"}
is_a: MONDO:0005570 {source="DOID:620", source="MESH:D001796"} ! hematologic disease
property_value: exactMatch DOID:620
property_value: exactMatch http://identifiers.org/mesh/D001796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005830

[Term]
id: MONDO:0003805
name: malignant pericardial mesothelioma
def: "A rare neoplasm of mesothelial origin that arises from the pericardium." [NCIT:P378]
synonym: "malignant mesothelioma (disease) of pericardium" EXACT []
synonym: "malignant mesothelioma of pericardium" EXACT [DOID:6201, NCIT:C7631]
synonym: "malignant mesothelioma of the pericardium" EXACT [NCIT:C7631]
synonym: "malignant pericardial mesothelioma" EXACT [DOID:6201, NCIT:C7631]
synonym: "pericardial malignant mesothelioma" EXACT [NCIT:C7631]
synonym: "pericardial mesothelioma" EXACT [MONDO:ambiguous]
synonym: "pericardium malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
synonym: "pericardium mesothelioma" EXACT [MONDO:patterns/location]
xref: DOID:6201 {source="MONDO:equivalentTo"}
xref: HP:0100004 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C45.2 {source="DOID:6201"}
xref: NCIT:C7631 {source="DesignPattern", source="DOID:6201", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: SCTID:109383000 {source="DesignPattern", source="DOID:6201", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346110 {source="DOID:6201", source="MEDGEN:kboom-pr98-c99", source="NCIT:C7631", source="MONDO:equivalentTo"}
xref: UMLS:C1335381 {source="DOID:6201", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001322 {source="DOID:6201", source="MONDO:Redundant", source="NCIT:C7631"} ! pericardium cancer
is_a: MONDO:0006292 {source="DOID:6201", source="MONDO:Redundant", source="MONDOLEX:0003805", source="NCIT:C7631", source="linkedlifedata"} ! malignant mesothelioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/187885008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854883
property_value: closeMatch NCIT:C7632
property_value: closeMatch NCIT:C8703
property_value: exactMatch DOID:6201
property_value: exactMatch http://identifiers.org/snomedct/109383000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335381
property_value: exactMatch NCIT:C7631

[Term]
id: MONDO:0003806
name: thyroid hyalinizing trabecular adenoma
def: "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." [NCIT:P378]
synonym: "HTAT" RELATED [ONCOTREE:HTAT]
synonym: "hyalinizing trabecular adenoma of the thyroid" EXACT [NCIT:C6846]
synonym: "hyalinizing trabecular adenoma of thyroid" EXACT [NCIT:C6846]
synonym: "hyalinizing trabecular tumor" EXACT [NCIT:C6846]
synonym: "paraganglioma-like adenoma" EXACT [NCIT:C6846]
synonym: "PLAT" EXACT [DOID:6203, NCIT:C6846]
synonym: "thyroid gland hyalinizing trabecular tumor" EXACT [NCIT:C6846]
synonym: "thyroid hyalinizing trabecular adenoma" EXACT [NCIT:C6846]
xref: DOID:6203 {source="MONDO:equivalentTo"}
xref: EFO:1000588 {source="MONDO:equivalentTo"}
xref: ICDO:8336/0 {source="NCIT:C6846"}
xref: NCIT:C6846 {source="DOID:6203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.62"}
xref: ONCOTREE:HTAT {source="MONDO:equivalentTo"}
xref: UMLS:C1336751 {source="DOID:6203", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 ! epithelial neoplasm
is_a: MONDO:0015074 {source="EFO:1000588", source="MONDO:Redundant", source="NCIT:C6846", source="ONCOTREE:HTAT"} ! thyroid tumor
relationship: excluded_subClassOf MONDO:0005032 {source="DOID:6203"} ! follicular thyroid adenoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266049
property_value: exactMatch DOID:6203
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336751
property_value: exactMatch NCIT:C6846

[Term]
id: MONDO:0003807
name: obsolete follicular thyroid adenoma
is_obsolete: true
replaced_by: MONDO:0005032

[Term]
id: MONDO:0003808
name: mediastinal extraskeletal osteosarcoma
def: "An osteosarcoma arising from the mediastinum." [NCIT:C6615]
synonym: "mediastinal extraskeletal osteosarcoma" EXACT [NCIT:C6615]
synonym: "mediastinal osteogenic sarcoma" EXACT [NCIT:C6615]
synonym: "mediastinal osteosarcoma" EXACT [NCIT:C6615]
synonym: "mediastinum osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of mediastinum" EXACT [NCIT:C6615]
synonym: "osteogenic sarcoma of the mediastinum" EXACT [NCIT:C6615]
synonym: "osteosarcoma of mediastinum" EXACT [DOID:6208, NCIT:C6615]
synonym: "osteosarcoma of the mediastinum" EXACT [NCIT:C6615]
xref: DOID:6208 {source="MONDO:equivalentTo"}
xref: NCIT:C6615 {source="DOID:6208", source="MONDO:equivalentTo"}
xref: UMLS:C1334675 {source="DOID:6208", source="MONDO:equivalentTo", source="NCIT:C6615"}
is_a: MONDO:0002621 {source="DOID:6208", source="MONDOLEX:0003808", source="NCIT:C6615"} ! extraosseous osteosarcoma
is_a: MONDO:0002852 {source="DOID:6208", source="MONDO:Redundant", source="NCIT:C6615"} ! mediastinum sarcoma
property_value: exactMatch DOID:6208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334675
property_value: exactMatch NCIT:C6615

[Term]
id: MONDO:0003809
name: malignant mediastinum hemangiopericytoma
def: "A malignant hemangiopericytoma arising in the mediastinum." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "malignant hemangiopericytoma of mediastinum" EXACT [DOID:6209, NCIT:C6608]
synonym: "malignant hemangiopericytoma of the mediastinum" EXACT [NCIT:C6608]
synonym: "malignant mediastinal hemangiopericytoma" EXACT [NCIT:C6608]
synonym: "mediastinum hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "mediastinum spindle cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:6209 {source="MONDO:equivalentTo"}
xref: NCIT:C6608 {source="MONDO:equivalentTo", source="DOID:6209", source="MONDO:kboom-pr-1.00/0.91/29.56"}
xref: UMLS:C1334598 {source="NCIT:C6608", source="MONDO:equivalentTo", source="DOID:6209"}
is_a: MONDO:0009330 {source="MONDOLEX:0003809", source="NCIT:C6608"} ! hemangiopericytoma, malignant
is_a: MONDO:0021386 ! neoplasm of mediastinum
relationship: excluded_subClassOf MONDO:0002852 {source="DOID:6209"} ! mediastinum sarcoma
property_value: exactMatch DOID:6209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334598
property_value: exactMatch NCIT:C6608

[Term]
id: MONDO:0003810
name: bladder diffuse clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." [NCIT:C39849]
synonym: "bladder diffuse clear cell adenocarcinoma" EXACT [NCIT:C39849]
xref: DOID:6210 {source="MONDO:equivalentTo"}
xref: NCIT:C39849 {source="MONDO:equivalentTo", source="NCIT:C39849", source="DOID:6210"}
xref: UMLS:C1511187 {source="MONDO:equivalentTo", source="NCIT:C39849", source="DOID:6210"}
is_a: MONDO:0003386 {source="DOID:6210", source="NCIT:C39849"} ! bladder clear cell adenocarcinoma
property_value: exactMatch DOID:6210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511187
property_value: exactMatch NCIT:C39849

[Term]
id: MONDO:0003811
name: ovarian seromucinous tumor
def: "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." [NCIT:C4508]
synonym: "mixed epithelial neoplasm of ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial neoplasm of the ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial tumor of ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial tumor of the ovary" EXACT [NCIT:C4508]
synonym: "ovarian mixed epithelial neoplasm" EXACT [NCIT:C4508]
synonym: "ovarian mixed epithelial tumor" EXACT [DOID:6211, NCIT:C4508]
synonym: "ovarian Seromucinous tumor" EXACT [NCIT:C4508]
xref: DOID:6211 {source="MONDO:equivalentTo"}
xref: EFO:1000425 {source="MONDO:equivalentTo"}
xref: NCIT:C4508 {source="MONDO:equivalentTo", source="DOID:6211"}
xref: SCTID:254855000 {source="MONDO:equivalentTo", source="DOID:6211", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346166 {source="NCIT:C4508", source="MONDO:equivalentTo", source="DOID:6211"}
is_a: MONDO:0002229 {source="MONDOLEX:0003811", source="NCIT:C4508", source="linkedlifedata"} ! ovarian epithelial tumor
is_a: MONDO:0021043 {source="NCIT:C4508"} ! mixed neoplasm
relationship: excluded_subClassOf MONDO:0000646 {source="DOID:6211"} ! ovarian benign neoplasm
property_value: exactMatch DOID:6211
property_value: exactMatch http://identifiers.org/snomedct/254855000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346166
property_value: exactMatch NCIT:C4508

[Term]
id: MONDO:0003812
name: ovarian endometrial cancer
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:P378]
synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212, NCIT:C6257]
synonym: "endometrioid tumor of ovary" EXACT [MONDO:design_pattern]
synonym: "malignant ovarian endometrioid tumor" EXACT [DOID:6212, NCIT:C40051]
synonym: "ovarian endometrioid neoplasm" EXACT [DOID:6212]
synonym: "ovary endometrioid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ovary female reproductive endometrioid cancer" EXACT [MONDO:patterns/location]
xref: DOID:6212 {source="MONDO:equivalentTo"}
xref: NCIT:C40051 {source="DOID:6212", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C1518231 {source="DOID:6212", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40051"}
is_a: MONDO:0002480 {source="DOID:6212", source="MONDO:Redundant", source="MONDOLEX:0003812", source="NCIT:C40051/inferred"} ! endometrioid tumor
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40051"} ! malignant epithelial tumor of ovary
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335159
property_value: closeMatch NCIT:C6257
property_value: exactMatch DOID:6212
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518231
property_value: exactMatch NCIT:C40051

[Term]
id: MONDO:0003813
name: ovarian papillary tumor
def: "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." [NCIT:C8430]
synonym: "ovarian papillary neoplasm" EXACT [NCIT:C8430]
synonym: "ovarian papillary tumor" EXACT [NCIT:C8430]
synonym: "ovarian papillary tumor (morphologic abnormality)" EXACT [DOID:6214]
synonym: "ovarian papillary tumour" EXACT [DOID:6214]
synonym: "papillary neoplasm of ovary" EXACT [NCIT:C8430]
synonym: "papillary neoplasm of the ovary" EXACT [NCIT:C8430]
synonym: "papillary tumor of ovary" EXACT [DOID:6214, NCIT:C8430]
synonym: "papillary tumor of the ovary" EXACT [NCIT:C8430]
xref: DOID:6214 {source="MONDO:equivalentTo"}
xref: NCIT:C8430 {source="DOID:6214", source="MONDO:equivalentTo"}
xref: UMLS:C0476121 {source="NCIT:C8430", source="DOID:6214", source="MONDO:equivalentTo"}
is_a: MONDO:0002229 {source="DOID:6214", source="NCIT:C8430"} ! ovarian epithelial tumor
is_a: MONDO:0021096 {source="NCIT:C8430"} ! papillary epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189683008
property_value: closeMatch http://identifiers.org/snomedct/253023005
property_value: exactMatch DOID:6214
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476121
property_value: exactMatch NCIT:C8430

[Term]
id: MONDO:0003814
name: obsolete gastric diffuse adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005017

[Term]
id: MONDO:0003815
name: obsolete Cronkhite-Canada syndrome
is_obsolete: true
replaced_by: MONDO:0008283

[Term]
id: MONDO:0003816
name: articular cartilage disease
def: "A disease involving the articular cartilage of joint." [MONDO:DesignPattern]
synonym: "articular cartilage disease" EXACT []
synonym: "articular cartilage disorder" EXACT []
synonym: "articular cartilage disorder involving ankle and foot" NARROW [DOID:6227, ICD9CM_2006:718.07]
synonym: "articular cartilage disorder involving forearm" NARROW [DOID:6227, ICD9CM_2006:718.03]
synonym: "articular cartilage disorder involving hand" NARROW [DOID:6227, ICD9CM_2006:718.04]
synonym: "articular cartilage disorder involving multiple sites" NARROW [DOID:6227, ICD9CM_2006:718.09]
synonym: "articular cartilage disorder involving pelvic region and thigh" NARROW [DOID:6227, ICD9CM_2006:718.05]
synonym: "articular cartilage disorder involving shoulder region" NARROW [DOID:6227, ICD9CM_2006:718.01]
synonym: "articular cartilage disorder involving upper arm" NARROW [DOID:6227, ICD9CM_2006:718.02]
synonym: "articular cartilage disorder of ankle and/or foot" NARROW [DOID:6227]
synonym: "articular cartilage disorder of forearm" NARROW [DOID:6227]
synonym: "articular cartilage disorder of hand" NARROW [DOID:6227]
synonym: "articular cartilage disorder of multiple sites" NARROW [DOID:6227]
synonym: "articular cartilage disorder of shoulder region" NARROW [DOID:6227]
synonym: "articular cartilage disorder of the pelvic region and thigh" NARROW [DOID:6227]
synonym: "articular cartilage disorder of upper arm" NARROW [DOID:6227]
synonym: "articular cartilage of joint disease" EXACT []
synonym: "articular cartilage of joint disease" NARROW [MONDO:patterns/location]
synonym: "articular cartilage of joint disease" RELATED []
synonym: "articular cartilage of joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of articular cartilage of joint" EXACT [MONDO:patterns/location_top]
synonym: "disease of articular cartilage of joint" NARROW [MONDO:patterns/location_top]
synonym: "disease or disorder of articular cartilage of joint" EXACT []
synonym: "disorder of articular cartilage" RELATED []
synonym: "disorder of articular cartilage of joint" EXACT [MONDO:patterns/location_top]
synonym: "disorder of articular cartilage of joint" RELATED [MONDO:patterns/location_top]
xref: DOID:6227 {source="MONDO:equivalentTo"}
xref: ICD9:718.0 {source="DOID:6227"}
xref: ICD9:718.00 {source="DOID:6227"}
xref: ICD9:718.02 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:53417006 {source="DOID:6227", source="MONDO:equivalentTo"}
xref: UMLS:C0158073 {source="DOID:6227", source="MONDO:equivalentTo"}
is_a: MONDO:0005569 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! cartilage disease
is_a: MONDO:0006816 {source="DOID:6227", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/156523007
property_value: closeMatch http://identifiers.org/snomedct/202132006
property_value: closeMatch http://identifiers.org/snomedct/202145005
property_value: closeMatch http://identifiers.org/snomedct/268062001
property_value: closeMatch http://identifiers.org/snomedct/287014004
property_value: exactMatch DOID:6227
property_value: exactMatch http://identifiers.org/snomedct/53417006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158073

[Term]
id: MONDO:0003817
name: obsolete peritoneal serous papillary adenocarcinoma
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/392 xsd:string
is_obsolete: true
replaced_by: MONDO:0018368

[Term]
id: MONDO:0003818
name: childhood mature teratoma of the ovary
def: "A mature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood mature ovarian teratoma" EXACT [MONDO:design_pattern]
synonym: "childhood mature teratoma of ovary" EXACT [NCIT:C6548]
synonym: "childhood ovarian mature teratoma" EXACT [NCIT:C6548]
synonym: "mature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mature ovarian teratoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric mature teratoma of ovary" EXACT [DOID:6229, NCIT:C6548]
synonym: "pediatric mature teratoma of the ovary" EXACT [NCIT:C6548]
synonym: "pediatric ovarian mature teratoma" EXACT [NCIT:C6548]
xref: DOID:6229 {source="MONDO:equivalentTo"}
xref: NCIT:C6548 {source="MONDO:equivalentTo", source="DOID:6229", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332991 {source="MONDO:equivalentTo", source="DOID:6229", source="NCIT:C6548"}
is_a: MONDO:0003819 {source="MONDO:Redundant", source="NCIT:C6548"} ! childhood teratoma of the ovary
is_a: MONDO:0003820 {source="DOID:6229", source="MONDO:Redundant", source="MONDOLEX:0003818", source="NCIT:C6548"} ! mature ovarian teratoma
property_value: exactMatch DOID:6229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332991
property_value: exactMatch NCIT:C6548

[Term]
id: MONDO:0003819
name: childhood teratoma of the ovary
def: "A mature or immature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood ovarian teratoma" EXACT [NCIT:C6554]
synonym: "childhood teratoma of ovary" EXACT [NCIT:C6554]
synonym: "childhood teratoma of the ovary" EXACT [NCIT:C6554]
synonym: "ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric ovarian teratoma" EXACT [MONDO:patterns/childhood, NCIT:C6554]
synonym: "pediatric ovarian teratoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric teratoma of ovary" EXACT [DOID:6230, NCIT:C6554]
synonym: "pediatric teratoma of the ovary" EXACT [NCIT:C6554]
xref: DOID:6230 {source="MONDO:equivalentTo"}
xref: NCIT:C6554 {source="MONDO:equivalentTo", source="DOID:6230", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332992 {source="MONDO:equivalentTo", source="NCIT:C6554", source="DOID:6230"}
is_a: MONDO:0003760 ! pediatric ovarian germ cell tumor
is_a: MONDO:0005602 {source="DOID:6230", source="MONDO:Redundant", source="NCIT:C6554"} ! ovarian teratoma
property_value: exactMatch DOID:6230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332992
property_value: exactMatch NCIT:C6554

[Term]
id: MONDO:0003820
name: mature ovarian teratoma
def: "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." [NCIT:C8112]
synonym: "mature ovarian teratoma" EXACT [NCIT:C8112]
synonym: "mature teratoma" RELATED [ONCOTREE:OMT]
synonym: "mature teratoma of ovary" EXACT [DOID:6231, NCIT:C8112]
synonym: "mature teratoma of the ovary" RELATED [NCIT:C8112]
synonym: "ovary mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6231 {source="MONDO:equivalentTo"}
xref: NCIT:C8112 {source="NCIT:C8112", source="MONDO:equivalentTo", source="DOID:6231"}
xref: ONCOTREE:OMT {source="MONDO:equivalentTo"}
xref: UMLS:C1334637 {source="NCIT:C8112", source="MONDO:equivalentTo", source="DOID:6231"}
is_a: MONDO:0003517 {source="DOID:6231", source="MONDO:Redundant", source="MONDOLEX:0003820", source="NCIT:C8112"} ! mature teratoma
is_a: MONDO:0003821 {source="DOID:6231", source="NCIT:C8112"} ! ovarian biphasic or triphasic teratoma
property_value: exactMatch DOID:6231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334637
property_value: exactMatch NCIT:C8112

[Term]
id: MONDO:0003821
name: ovarian biphasic or triphasic teratoma
def: "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." [NCIT:C39992]
synonym: "ovarian biphasic or triphasic teratoma" EXACT [NCIT:C39992]
xref: DOID:6232 {source="MONDO:equivalentTo"}
xref: NCIT:C39992 {source="NCIT:C39992", source="MONDO:equivalentTo", source="DOID:6232"}
xref: UMLS:C1518691 {source="NCIT:C39992", source="MONDO:equivalentTo", source="DOID:6232"}
is_a: MONDO:0005602 {source="DOID:6232", source="NCIT:C39992"} ! ovarian teratoma
property_value: exactMatch DOID:6232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518691
property_value: exactMatch NCIT:C39992

[Term]
id: MONDO:0003822
name: non-invasive bladder papillary urothelial neoplasm
def: "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." [NCIT:P378]
synonym: "bladder papillary neoplasm of low malignant potential" EXACT [DOID:6239]
synonym: "bladder PUNLMP" EXACT [DOID:6239, NCIT:C27884]
synonym: "non-invasive bladder papillary urothelial neoplasm" EXACT [NCIT:C39831]
synonym: "papillary urothelial neoplasm of low malignant potential" EXACT [DOID:6239]
xref: DOID:6239 {source="MONDO:equivalentTo"}
xref: NCIT:C39831 {source="DOID:6239", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518358 {source="DOID:6239", source="MONDO:equivalentTo", source="NCIT:C39831"}
is_a: MONDO:0003442 {source="DOID:6239", source="MONDOLEX:0003822", source="NCIT:C39831"} ! bladder papillary urothelial neoplasm
is_a: MONDO:0003755 {source="NCIT:C39831"} ! urinary tract non-invasive transitional cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128625004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266010
property_value: closeMatch NCIT:C27884
property_value: exactMatch DOID:6239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518358
property_value: exactMatch NCIT:C39831

[Term]
id: MONDO:0003823
name: obsolete transient hypogammaglobulinemia of infancy
is_obsolete: true
replaced_by: MONDO:0015698

[Term]
id: MONDO:0003824
name: hereditary kidney oncocytoma
def: "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." [NCIT:C8960]
synonym: "familial renal oncocytoma" EXACT [NCIT:C8960]
synonym: "hereditary kidney oncocytoma" EXACT [MONDO:patterns/hereditary, NCIT:C8960]
synonym: "hereditary renal oncocytoma" EXACT [NCIT:C8960]
xref: DOID:6244 {source="MONDO:equivalentTo"}
xref: NCIT:C8960 {source="NCIT:C8960", source="MONDO:equivalentTo", source="DOID:6244"}
xref: UMLS:C0879606 {source="NCIT:C8960", source="MONDO:equivalentTo", source="DOID:6244"}
is_a: MONDO:0003825 {source="DOID:6244", source="MONDO:Redundant", source="MONDOLEX:0003824", source="NCIT:C8960"} ! kidney oncocytoma
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0003825 ! kidney oncocytoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:6244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0879606
property_value: exactMatch NCIT:C8960

[Term]
id: MONDO:0003825
name: kidney oncocytoma
def: "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." [NCIT:C4526]
subset: gard_rare {source="GARD:0008477"}
synonym: "kidney oncocytic neoplasm" EXACT [MONDO:patterns/location]
synonym: "kidney oncocytoma" EXACT [NCIT:C4526]
synonym: "oncocytoma kidney" RELATED [GARD:0008477]
synonym: "oncocytoma of kidney" EXACT [NCIT:C4526]
synonym: "oncocytoma of the kidney" EXACT [NCIT:C4526]
synonym: "oncocytoma renal" RELATED [GARD:0008477]
synonym: "renal epithelial oncocytic neoplasm" EXACT [NCIT:C4526]
synonym: "renal epithelial oncocytic tumor" EXACT [DOID:6245, NCIT:C4526]
synonym: "renal oncocytoma" EXACT [NCIT:C4526]
synonym: "ROCY" RELATED [ONCOTREE:ROCY]
xref: DOID:6245 {source="MONDO:equivalentTo"}
xref: EFO:1000315 {source="MONDO:equivalentTo"}
xref: GARD:0008477 {source="MONDO:equivalentTo"}
xref: MESH:C537750 {source="DOID:6245", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4526 {source="DOID:6245", source="MONDO:equivalentTo"}
xref: ONCOTREE:ROCY {source="MONDO:equivalentTo"}
xref: SCTID:254922006 {source="DOID:6245", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346255 {source="DOID:6245", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4526"}
is_a: MONDO:0002513 {source="DOID:6245", source="NCIT:C4526", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney benign neoplasm
is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C4526"} ! oncocytic neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:6245
property_value: exactMatch http://identifiers.org/mesh/C537750
property_value: exactMatch http://identifiers.org/snomedct/254922006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346255
property_value: exactMatch NCIT:C4526
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma xsd:anyURI {source="GARD:0008477"}

[Term]
id: MONDO:0003826
name: mediastinum seminoma
def: "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." [NCIT:C6812]
synonym: "mediastinal seminoma" EXACT [NCIT:C6812]
synonym: "mediastinum seminoma" EXACT [MONDO:patterns/location]
synonym: "seminoma of mediastinum" EXACT [DOID:6249, NCIT:C6812]
synonym: "seminoma of the mediastinum" EXACT [NCIT:C6812]
xref: DOID:6249 {source="MONDO:equivalentTo"}
xref: NCIT:C6812 {source="DOID:6249", source="MONDO:equivalentTo"}
xref: UMLS:C1334680 {source="DOID:6249", source="MONDO:equivalentTo"}
is_a: MONDO:0003668 {source="NCIT:C6812"} ! extragonadal seminoma
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C6812"} ! mediastinal malignant germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349664
property_value: exactMatch DOID:6249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334680
property_value: exactMatch NCIT:C6812

[Term]
id: MONDO:0003827
name: transient hypogammaglobulinemia
def: "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." [NCIT:P378]
xref: DOID:625 {source="MONDO:equivalentTo"}
xref: NCIT:C27319 {source="DOID:625", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0859960 {source="DOID:625", source="MONDO:equivalentTo", source="NCIT:C27319"}
is_a: MONDO:0016463 {source="MONDOLEX:0003827", source="NCIT:C27319"} ! syndromic agammaglobulinemia
property_value: exactMatch DOID:625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859960
property_value: exactMatch NCIT:C27319

[Term]
id: MONDO:0003828
name: growth hormone-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly." [NCIT:C5963]
synonym: "Growth hormone producing pituitary gland carcinoma" EXACT [NCIT:C5963]
synonym: "Growth hormone-producing pituitary gland carcinoma" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary gland tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary gland tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant pituitary gland Somatotrophinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary gland somatotropinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary Somatotrophinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary somatotropinoma" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma" EXACT [DOID:6256, NCIT:C5963]
synonym: "malignant somatotropinoma of pituitary" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of the pituitary gland" EXACT [NCIT:C5963]
xref: DOID:6256 {source="MONDO:equivalentTo"}
xref: NCIT:C5963 {source="DOID:6256", source="MONDO:equivalentTo"}
xref: UMLS:C1334587 {source="DOID:6256", source="MONDO:equivalentTo", source="NCIT:C5963"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0002109 ! pituitary cancer
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0019927 {source="MONDO:Redundant", source="NCIT:C5963"} ! growth hormone-producing pituitary gland neoplasm
relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6256"} ! functioning pituitary gland neoplasm
property_value: exactMatch DOID:6256
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334587
property_value: exactMatch NCIT:C5963

[Term]
id: MONDO:0003829
name: chromophil adenoma of the kidney
def: "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." [NCIT:P378]
synonym: "chromophil adenoma of the kidney" EXACT [NCIT:C3687]
synonym: "papillary adenoma of the kidney" EXACT [DOID:6257, NCIT:C3687]
synonym: "renal papillary adenoma" EXACT [NCIT:C3687]
xref: DOID:6257 {source="MONDO:equivalentTo"}
xref: NCIT:C3687 {source="DOID:6257", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1518879 {source="DOID:6257", source="MONDO:equivalentTo", source="NCIT:C3687"}
is_a: MONDO:0002395 {source="DOID:6257", source="NCIT:C3687"} ! renal adenoma
is_a: MONDO:0002533 {source="MONDOLEX:0003829", source="NCIT:C3687"} ! papillary adenoma
property_value: exactMatch DOID:6257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518879
property_value: exactMatch NCIT:C3687

[Term]
id: MONDO:0003830
name: type 1 papillary adenoma of the kidney
synonym: "type 1 papillary adenoma of the kidney" EXACT [NCIT:C39809]
synonym: "type 1 renal papillary adenoma" EXACT [NCIT:C39809]
xref: DOID:6258 {source="MONDO:equivalentTo"}
xref: NCIT:C39809 {source="DOID:6258", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1519706 {source="NCIT:C39809", source="DOID:6258", source="MONDO:equivalentTo"}
is_a: MONDO:0003829 {source="DOID:6258", source="MONDOLEX:0003830", source="NCIT:C39809"} ! chromophil adenoma of the kidney
property_value: exactMatch DOID:6258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519706
property_value: exactMatch NCIT:C39809

[Term]
id: MONDO:0003831
name: type 2 papillary adenoma of the kidney
synonym: "type 2 papillary adenoma of the kidney" EXACT [NCIT:C39810]
synonym: "type 2 renal papillary adenoma" EXACT [NCIT:C39810]
xref: DOID:6259 {source="MONDO:equivalentTo"}
xref: NCIT:C39810 {source="DOID:6259", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1519710 {source="DOID:6259", source="MONDO:equivalentTo", source="NCIT:C39810"}
is_a: MONDO:0003829 {source="DOID:6259", source="MONDOLEX:0003831", source="NCIT:C39810"} ! chromophil adenoma of the kidney
property_value: exactMatch DOID:6259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519710
property_value: exactMatch NCIT:C39810

[Term]
id: MONDO:0003832
name: complement deficiency
def: "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." [MONDO:nv, PMID:16026838, PMID:20930072]
subset: ordo_group_of_disorders {source="Orphanet:459345"}
synonym: "complement activation disease" EXACT [MONDO:design_pattern]
synonym: "complement deficiency" EXACT [DOID:626, NCIT:C4691]
synonym: "complement deficiency disease" EXACT [DOID:626]
synonym: "disorder of complement activation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of complement activation" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726]
xref: DOID:626 {source="MONDO:equivalentTo"}
xref: ICD10:D80-D89 {source="DOID:626"}
xref: ICD10:D84.1 {source="DOID:626"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4691 {source="DOID:626", source="MONDO:equivalentTo"}
xref: Orphanet:459345 {source="MONDO:equivalentTo"}
xref: SCTID:24743004 {source="DOID:626", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0272242 {source="NCIT:C4691", source="DOID:626", source="MONDO:equivalentTo"}
is_a: MONDO:0015136 {source="Orphanet:459345"} ! immunodeficiency due to a genetic complement cascade protein anomaly
is_a: MONDO:0021094 {source="MONDOLEX:0003832", source="NCIT:C4691", source="linkedlifedata", source="linkedlifedata/inferred"} ! immunodeficiency disease
property_value: closeMatch http://identifiers.org/snomedct/191014008
property_value: exactMatch DOID:626
property_value: exactMatch http://identifiers.org/snomedct/24743004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272242
property_value: exactMatch NCIT:C4691
property_value: exactMatch Orphanet:459345

[Term]
id: MONDO:0003833
name: obsolete severe combined immunodeficiency (disease)
is_obsolete: true
replaced_by: MONDO:0015974

[Term]
id: MONDO:0003834
name: gastric cardia carcinoma
def: "A carcinoma that arises from epithelial cells of the cardia of stomach." [MONDO:DesignPattern]
synonym: "cancer of gastric cardia" EXACT [NCIT:C6794]
synonym: "cancer of the gastric cardia" EXACT [NCIT:C6794]
synonym: "carcinoma of cardia of stomach" EXACT [DOID:6270, MONDO:patterns/carcinoma, NCIT:C6794]
synonym: "carcinoma of gastric cardia" EXACT [NCIT:C6794]
synonym: "carcinoma of the cardia of the stomach" EXACT [NCIT:C6794]
synonym: "carcinoma of the gastric cardia" EXACT [NCIT:C6794]
synonym: "cardia of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric cardia (stomach) cancer" EXACT [NCIT:C6794]
synonym: "gastric cardia cancer" EXACT [NCIT:C6794]
xref: DOID:6270 {source="MONDO:equivalentTo"}
xref: EFO:1001252 {source="MONDO:equivalentTo"}
xref: NCIT:C6794 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:6270"}
xref: UMLS:C1333763 {source="MONDO:equivalentTo", source="DOID:6270"}
is_a: MONDO:0001063 {source="DOID:6270", source="MONDO:Redundant", source="MONDOLEX:0003834"} ! cardia cancer
is_a: MONDO:0004950 {source="DOID:6270", source="EFO:1001252", source="MONDO:Redundant", source="MONDOLEX:0003834", source="NCIT:C6794"} ! gastric carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345794
property_value: exactMatch DOID:6270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333763
property_value: exactMatch NCIT:C6794

[Term]
id: MONDO:0003835
name: gastric cardia adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the cardia of stomach." [MONDO:DesignPattern]
synonym: "adenocarcinoma of cardia of stomach" EXACT [DOID:6271, NCIT:C5247]
synonym: "adenocarcinoma of gastric cardia" RELATED [DOID:6271]
synonym: "adenocarcinoma of the cardia of the stomach" EXACT [NCIT:C5247]
synonym: "adenocarcinoma of the gastric cardia" EXACT [NCIT:C5247]
synonym: "cardia of stomach adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6271 {source="MONDO:equivalentTo"}
xref: NCIT:C5247 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:6271"}
xref: UMLS:C1333762 {source="MONDO:equivalentTo", source="DOID:6271", source="NCIT:C5247"}
is_a: MONDO:0003834 {source="DOID:6271", source="MONDO:Redundant", source="MONDOLEX:0003835", source="NCIT:C5247"} ! gastric cardia carcinoma
is_a: MONDO:0005036 {source="DOID:6271", source="MONDO:Redundant", source="MONDOLEX:0003835", source="NCIT:C5247/inferred"} ! gastric adenocarcinoma
property_value: exactMatch DOID:6271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333762
property_value: exactMatch NCIT:C5247

[Term]
id: MONDO:0003836
name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." [NCIT:P378]
synonym: "malignant pituitary gland thyrotropinoma" EXACT [NCIT:C5965]
synonym: "malignant pituitary thyrotropinoma" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma" EXACT [DOID:6274, NCIT:C5965]
synonym: "malignant thyrotropinoma of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "thyrotropin producing pituitary gland carcinoma" EXACT [NCIT:C5965]
synonym: "TSH producing pituitary gland carcinoma" EXACT [NCIT:C5965]
synonym: "TSH-producing pituitary gland carcinoma" EXACT [NCIT:C5965]
xref: DOID:6274 {source="MONDO:equivalentTo"}
xref: NCIT:C5965 {source="MONDO:equivalentTo", source="DOID:6274", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334627 {source="MONDO:equivalentTo", source="NCIT:C5965", source="DOID:6274"}
is_a: MONDO:0003837 {source="MONDOLEX:0003836", source="NCIT:C5965"} ! TSH producing pituitary tumor
property_value: exactMatch DOID:6274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334627
property_value: exactMatch NCIT:C5965

[Term]
id: MONDO:0003837
name: TSH producing pituitary tumor
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumour" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyrotroph adenoma" EXACT []
synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyrotropin-secreting pituitary adenoma" RELATED []
synonym: "TSH producing neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary tumor" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting adenoma of the pituitary" EXACT [DOID:6275, NCIT:C8011]
synonym: "TSH secreting neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary tumor" EXACT [NCIT:C7915]
synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275, NCIT:C7915]
synonym: "TSH secreting tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH-oma" RELATED []
synonym: "TSH-producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH-producing pituitary gland tumor" EXACT [NCIT:C7915]
xref: DOID:6275 {source="MONDO:equivalentTo"}
xref: NCIT:C7915 {source="kboom:pr0.75-conf3.83", source="MONDO:equivalentTo"}
xref: SCTID:254959007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:6275"}
xref: UMLS:C2362538 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98", source="NCIT:C7915"}
is_a: MONDO:0003429 {source="DOID:6275", source="MONDOLEX:0003837"} ! functioning pituitary gland adenoma
property_value: exactMatch DOID:6275
property_value: exactMatch http://identifiers.org/snomedct/254959007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2362538
property_value: exactMatch NCIT:C7915

[Term]
id: MONDO:0003838
name: obsolete malignant ACTH producing neoplasm of pituitary gland
is_obsolete: true
replaced_by: MONDO:0006069

[Term]
id: MONDO:0003839
name: ovarian mucinous adenocarcinofibroma
def: "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material." [NCIT:C40034]
synonym: "ovarian mucinous adenocarcinofibroma" EXACT [DOID:6278, NCIT:C40034]
synonym: "ovarian mucinous malignant adenofibroma" EXACT [NCIT:C40034]
xref: DOID:6278 {source="MONDO:equivalentTo"}
xref: ICDO:9015/3 {source="NCIT:C40034"}
xref: NCIT:C40034 {source="DOID:6278", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2212014 {source="MONDO:equivalentTo", source="NCIT:C40034"}
is_a: MONDO:0002991 {source="DOID:6278", source="MONDO:Redundant", source="NCIT:C40034"} ! adenocarcinofibroma
is_a: MONDO:0024282 {source="MONDO:Redundant", source="NCIT:C40034"} ! mucinous ovarian cancer
intersection_of: MONDO:0002991 {source="NCIT:C40034"} ! adenocarcinofibroma
intersection_of: MONDO:0024282 {source="NCIT:C40034"} ! mucinous ovarian cancer
property_value: exactMatch DOID:6278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2212014
property_value: exactMatch NCIT:C40034

[Term]
id: MONDO:0003840
name: epicardium lipoma
def: "A rare benign adipose tissue neoplasm of the epicardium of the heart." [NCIT:P378]
synonym: "epicardial lipoma" EXACT [NCIT:C6742]
synonym: "epicardium lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of epicardium" EXACT [DOID:6284, NCIT:C6742]
synonym: "lipoma of the epicardium" EXACT [NCIT:C6742]
xref: DOID:6284 {source="MONDO:equivalentTo"}
xref: NCIT:C6742 {source="MONDO:equivalentTo", source="DOID:6284", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333411 {source="MONDO:equivalentTo", source="NCIT:C6742", source="DOID:6284"}
is_a: MONDO:0003841 {source="DOID:6284", source="MONDO:Redundant", source="NCIT:C6742"} ! heart lipoma
is_a: MONDO:0021508 {source="MONDO:Redundant", source="NCIT:C6742"} ! benign neoplasm of epicardium
property_value: exactMatch DOID:6284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333411
property_value: exactMatch NCIT:C6742

[Term]
id: MONDO:0003841
name: heart lipoma
def: "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." [NCIT:P378]
synonym: "Cardiac lipoma" EXACT [NCIT:C6741]
synonym: "heart lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of heart" EXACT [DOID:6285, NCIT:C6741]
synonym: "lipoma of the heart" EXACT [NCIT:C6741]
xref: DOID:6285 {source="MONDO:equivalentTo"}
xref: NCIT:C6741 {source="MONDO:equivalentTo", source="DOID:6285", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332849 {source="MONDO:equivalentTo", source="NCIT:C6741", source="DOID:6285"}
is_a: MONDO:0005106 {source="DOID:6285", source="MONDO:Redundant", source="MONDOLEX:0003841", source="NCIT:C6741"} ! lipoma
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C6741"} ! benign neoplasm of heart
property_value: exactMatch DOID:6285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332849
property_value: exactMatch NCIT:C6741

[Term]
id: MONDO:0003842
name: childhood cerebellar astrocytic neoplasm
def: "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." [NCIT:P378]
synonym: "cerebellar astrocytoma" EXACT [NCIT:C6286]
synonym: "cerebellar astrocytoma, childhood" RELATED [GARD:0009301]
synonym: "cerebellum childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cerebellum juvenile astrocytoma" EXACT [MONDO:patterns/location]
synonym: "childhood astrocytic tumor of cerebellum" EXACT [MONDO:design_pattern]
synonym: "childhood astrocytoma of cerebellum" EXACT [NCIT:C6286]
synonym: "childhood astrocytoma of the cerebellum" EXACT [NCIT:C6286]
synonym: "childhood cerebellar astrocytoma" EXACT [NCIT:C6286]
synonym: "pediatric astrocytoma of cerebellum" EXACT [DOID:6286, NCIT:C6286]
synonym: "pediatric astrocytoma of the cerebellum" EXACT [NCIT:C6286]
synonym: "pediatric cerebellar astrocytoma" EXACT [NCIT:C6286]
xref: DOID:6286 {source="MONDO:equivalentTo"}
xref: GARD:0009301 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C6286 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.32", source="DOID:6286"}
xref: UMLS:C0278594 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6286", source="MONDO:equivalentTo", source="DOID:6286"}
is_a: MONDO:0002505 {source="DOID:6286", source="MONDO:Redundant", source="MONDOLEX:0003842", source="NCIT:C6286/inferred"} ! childhood astrocytic tumor
is_a: MONDO:0003165 {source="DOID:6286", source="MONDO:Entailed", source="NCIT:C6286"} ! cerebellar astrocytoma
is_a: MONDO:0003263 {source="NCIT:C6286"} ! childhood cerebellar neoplasm
property_value: exactMatch DOID:6286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278594
property_value: exactMatch NCIT:C6286

[Term]
id: MONDO:0003843
name: cerebral hemisphere lipoma
def: "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." [NCIT:C6220]
synonym: "cerebral hemisphere lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of cerebral hemisphere" EXACT [NCIT:C6220]
synonym: "lipoma of the cerebral hemisphere" EXACT [DOID:6291, NCIT:C6220]
xref: DOID:6291 {source="MONDO:equivalentTo"}
xref: NCIT:C6220 {source="DOID:6291", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332907 {source="NCIT:C6220", source="DOID:6291", source="MONDO:equivalentTo"}
is_a: MONDO:0003844 {source="DOID:6291", source="MONDO:Redundant", source="NCIT:C6220/inferred"} ! central nervous system lipoma
is_a: MONDO:0021497 {source="MONDO:Redundant", source="NCIT:C6220"} ! benign neoplasm of cerebrum
property_value: exactMatch DOID:6291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332907
property_value: exactMatch NCIT:C6220

[Term]
id: MONDO:0003844
name: central nervous system lipoma
def: "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." [NCIT:C5451]
synonym: "central nervous system lipoma" EXACT [MONDO:patterns/location, NCIT:C5451]
synonym: "CNS lipoma" EXACT [NCIT:C5451]
synonym: "lipoma of central nervous system" EXACT [NCIT:C5451]
synonym: "lipoma of CNS" EXACT [NCIT:C5451]
synonym: "lipoma of the central nervous system" EXACT [NCIT:C5451]
synonym: "lipoma of the CNS" EXACT [DOID:6293, NCIT:C5451]
xref: DOID:6293 {source="MONDO:equivalentTo"}
xref: NCIT:C5451 {source="MONDO:equivalentTo", source="DOID:6293", source="exact-label-match"}
xref: UMLS:C1332885 {source="NCIT:C5451", source="MONDO:equivalentTo", source="DOID:6293"}
is_a: MONDO:0000628 {source="DOID:6293", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0005106 {source="DOID:6293", source="MONDO:Redundant", source="MONDOLEX:0003844", source="NCIT:C5451"} ! lipoma
property_value: exactMatch DOID:6293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332885
property_value: exactMatch NCIT:C5451

[Term]
id: MONDO:0003845
name: corpus callosum lipoma
def: "A rare benign adipose tissue neoplasm of the corpus callosum." [NCIT:P378]
synonym: "corpus callosum lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of corpus callosum" EXACT [NCIT:C5438]
synonym: "lipoma of the corpus callosum" EXACT [DOID:6294, NCIT:C5438]
xref: DOID:6294 {source="MONDO:equivalentTo"}
xref: NCIT:C5438 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6294"}
xref: UMLS:C1333160 {source="MONDO:equivalentTo", source="DOID:6294", source="NCIT:C5438"}
is_a: MONDO:0003843 {source="DOID:6294", source="MONDO:Redundant", source="NCIT:C5438"} ! cerebral hemisphere lipoma
property_value: exactMatch DOID:6294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333160
property_value: exactMatch NCIT:C5438

[Term]
id: MONDO:0003846
name: viral esophagitis
def: "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." [NCIT:C27108]
synonym: "viral esophagitis" EXACT [NCIT:C27108]
synonym: "Viruses caused esophagitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses esophagitis (disease)" EXACT []
xref: DOID:6297 {source="MONDO:equivalentTo"}
xref: NCIT:C27108 {source="MONDO:equivalentTo", source="NCIT:C27108", source="DOID:6297"}
xref: SCTID:235603003 {source="MONDO:equivalentTo", source="DOID:6297", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0341110 {source="MONDO:equivalentTo", source="NCIT:C27108", source="DOID:6297"}
is_a: MONDO:0001409 {source="DOID:6297", source="MONDO:Redundant", source="NCIT:C27108"} ! esophagitis (disease)
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:6297
property_value: exactMatch http://identifiers.org/snomedct/235603003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341110
property_value: exactMatch NCIT:C27108

[Term]
id: MONDO:0003847
name: Mendelian disease
def: "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." [MONDO:cjm]
comment: Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.
synonym: "familial disorder" RELATED []
synonym: "genetic condition" BROAD [NCIT:C3101]
synonym: "genetic condition" EXACT [NCIT:C3101]
synonym: "genetic disease" BROAD []
synonym: "genetic disorder" BROAD [NCIT:C3101]
synonym: "genetic disorder" EXACT [NCIT:C3101]
synonym: "hereditary disease" EXACT [MONDO:patterns/hereditary, NCIT:C3101]
synonym: "hereditary disease or disorder" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary diseases" EXACT [NCIT:C3101]
synonym: "inborn disorder" RELATED []
synonym: "inherited disease" EXACT [NCIT:C3101]
synonym: "inherited genetic disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1758]
synonym: "molecular disease" EXACT [NCIT:C3101]
xref: DOID:630 {source="MONDO:equivalentTo"}
xref: EFO:0000508 {source="MONDO:equivalentTo"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D030342 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"}
xref: NCIT:C3101 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"}
xref: SCTID:32895009 {source="MONDO:equivalentTo", source="DOID:630"}
xref: UMLS:C0019247 {source="EFO:0000508", source="MONDO:equivalentTo", source="NCIT:C3101", source="DOID:630"}
is_a: MONDO:0000001 {source="DOID:630", source="EFO:0000508", source="MONDO:Redundant", source="NCIT:C3101", source="linkedlifedata"} ! disease or disorder
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
disjoint_from: MONDO:0016592 ! non-hereditary degenerative ataxia
relationship: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/264530000
property_value: exactMatch DOID:630
property_value: exactMatch http://identifiers.org/mesh/D030342
property_value: exactMatch http://identifiers.org/snomedct/32895009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019247
property_value: exactMatch NCIT:C3101

[Term]
id: MONDO:0003848
name: ectopic thymus
def: "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." [NCIT:C27804]
synonym: "ectopic thymus" EXACT [NCIT:C27804]
xref: DOID:6307 {source="MONDO:equivalentTo"}
xref: NCIT:C27804 {source="DOID:6307", source="MONDO:equivalentTo"}
xref: UMLS:C1333375 {source="DOID:6307", source="MONDO:equivalentTo", source="NCIT:C27804"}
is_a: MONDO:0003393 {source="DOID:6307", source="NCIT:C27804/inferred"} ! thymus gland disease
property_value: exactMatch DOID:6307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333375
property_value: exactMatch NCIT:C27804

[Term]
id: MONDO:0003849
name: clivus chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." [NCIT:P378]
synonym: "chordoma (disease) of clivus of occipital bone" EXACT []
synonym: "chordoma of clivus" EXACT [DOID:6312, NCIT:C5412]
synonym: "chordoma of the clivus" EXACT [NCIT:C5412]
synonym: "clival chordoma" EXACT [NCIT:C5412]
synonym: "clivus of occipital bone chordoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6312 {source="MONDO:equivalentTo"}
xref: ICD9:170.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5412 {source="DOID:6312", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:446939001 {source="DOID:6312", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333071 {source="DOID:6312", source="MONDO:equivalentTo", source="NCIT:C5412"}
is_a: MONDO:0002892 {source="DOID:6312", source="NCIT:C5412"} ! skull base chordoma
property_value: exactMatch DOID:6312
property_value: exactMatch http://identifiers.org/snomedct/446939001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333071
property_value: exactMatch NCIT:C5412

[Term]
id: MONDO:0003850
name: clivus chondroid chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage." [NCIT:P378]
synonym: "chondroid chordoma of clivus" EXACT [NCIT:C5426]
synonym: "chondroid chordoma of clivus of occipital bone" EXACT [MONDO:design_pattern]
synonym: "chondroid chordoma of the clivus" EXACT [DOID:6313, NCIT:C5426]
synonym: "clivus of occipital bone chondroid chordoma" EXACT [MONDO:patterns/location]
xref: DOID:6313 {source="MONDO:equivalentTo"}
xref: NCIT:C5426 {source="DOID:6313", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333072 {source="DOID:6313", source="MONDO:equivalentTo", source="NCIT:C5426"}
is_a: MONDO:0003849 {source="DOID:6313", source="MONDO:Redundant", source="NCIT:C5426"} ! clivus chordoma
is_a: MONDO:0006145 {source="DOID:6313", source="MONDO:Redundant", source="MONDOLEX:0003850", source="NCIT:C5426"} ! chondroid chordoma
property_value: exactMatch DOID:6313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333072
property_value: exactMatch NCIT:C5426

[Term]
id: MONDO:0003851
name: ovarian fetiform teratoma
def: "A rare type of teratoma that arises from the ovary and resembles a malformed fetus." [NCIT:C39996]
synonym: "homunculus" EXACT [NCIT:C39996]
synonym: "ovarian fetiform teratoma" EXACT [NCIT:C39996]
xref: DOID:6314 {source="MONDO:equivalentTo"}
xref: NCIT:C39996 {source="DOID:6314", source="MONDO:equivalentTo"}
xref: UMLS:C1518715 {source="DOID:6314", source="MONDO:equivalentTo", source="NCIT:C39996"}
is_a: MONDO:0003820 {source="DOID:6314", source="NCIT:C39996"} ! mature ovarian teratoma
property_value: exactMatch DOID:6314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518715
property_value: exactMatch NCIT:C39996

[Term]
id: MONDO:0003852
name: ovarian solid teratoma
def: "A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present." [NCIT:P378]
xref: DOID:6315 {source="MONDO:equivalentTo"}
xref: NCIT:C7285 {source="DOID:6315", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C1335181 {source="NCIT:C7285", source="DOID:6315", source="MONDO:equivalentTo"}
is_a: MONDO:0003820 {source="DOID:6315", source="NCIT:C7285"} ! mature ovarian teratoma
property_value: exactMatch DOID:6315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335181
property_value: exactMatch NCIT:C7285

[Term]
id: MONDO:0003853
name: Bartholin gland adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the major vestibular gland." [MONDO:DesignPattern]
synonym: "adenocarcinoma of Bartholin's gland" RELATED [DOID:6316]
synonym: "adenocarcinoma of the Bartholin's gland" EXACT [DOID:6316, NCIT:C7719]
synonym: "Bartholin gland adenocarcinoma" EXACT [DOID:6316]
synonym: "major vestibular gland adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6316 {source="MONDO:equivalentTo"}
xref: NCIT:C7719 {source="DOID:6316", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238016 {source="NCIT:C7719", source="DOID:6316", source="MONDO:equivalentTo"}
is_a: MONDO:0002829 {source="DOID:6316", source="MONDO:Redundant", source="NCIT:C7719"} ! bartholin gland carcinoma
is_a: MONDO:0024336 {source="DOID:6316", source="MONDO:Redundant", source="NCIT:C7719"} ! vulvar adenocarcinoma
property_value: exactMatch DOID:6316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238016
property_value: exactMatch NCIT:C7719

[Term]
id: MONDO:0003854
name: obsolete tibial adamantinoma
is_obsolete: true
replaced_by: MONDO:0006469

[Term]
id: MONDO:0003855
name: obsolete immature teratoma of ovary
is_obsolete: true
replaced_by: MONDO:0018369

[Term]
id: MONDO:0003856
name: adult malignant hemangiopericytoma
def: "A malignant hemangiopericytoma occurring in the adult population." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "adult hemangiopericytoma, malignant" EXACT [MONDO:design_pattern]
synonym: "hemangiopericytoma, malignant of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "malignant adult hemangiopericytoma" EXACT [NCIT:C7946]
xref: DOID:6332 {source="MONDO:equivalentTo"}
xref: NCIT:C7946 {source="MONDO:equivalentTo", source="DOID:6332", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0279547 {source="MONDO:equivalentTo", source="NCIT:C7946", source="DOID:6332"}
is_a: MONDO:0009330 {source="MONDO:Redundant", source="MONDOLEX:0003856", source="NCIT:C7946"} ! hemangiopericytoma, malignant
property_value: exactMatch DOID:6332
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279547
property_value: exactMatch NCIT:C7946

[Term]
id: MONDO:0003857
name: adult intracranial malignant hemangiopericytoma
def: "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "adult intracranial anaplastic hemangiopericytoma" EXACT [NCIT:C9183]
synonym: "adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3" EXACT [NCIT:C9183]
synonym: "adult malignant intracranial hemangiopericytoma" EXACT [DOID:6333, NCIT:C9183]
synonym: "central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3" EXACT [NCIT:C9183]
synonym: "malignant adult intracranial hemangiopericytoma" EXACT [NCIT:C9183]
xref: DOID:6333 {source="MONDO:equivalentTo"}
xref: NCIT:C9183 {source="DOID:6333", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.83"}
xref: UMLS:C1334558 {source="DOID:6333", source="MONDO:equivalentTo", source="NCIT:C9183"}
xref: UMLS:C4331858 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005094 ! hemangiopericytoma
is_a: MONDO:0037740 {source="NCIT:C129527", source="NCIT:C9183/inferred"} ! malignant central nervous system mesenchymal, non-meningothelial neoplasm
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:6333"} ! connective tissue cancer
property_value: exactMatch DOID:6333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4331858
property_value: exactMatch NCIT:C9183

[Term]
id: MONDO:0003858
name: anterior optic tract meningioma
def: "A meningioma that affects the anterior visual pathway." [NCIT:P378]
synonym: "anterior visual pathway meningioma" EXACT [NCIT:C7538]
xref: DOID:6334 {source="MONDO:equivalentTo"}
xref: NCIT:C7538 {source="DOID:6334", source="MONDO:kboom-pr-1.00/0.91/27.59", source="MONDO:equivalentTo"}
xref: UMLS:C1332308 {source="DOID:6334", source="MONDO:equivalentTo", source="NCIT:C7538"}
is_a: MONDO:0024648 {source="NCIT:C7538"} ! optic tract meningioma
relationship: excluded_subClassOf MONDO:0002640 {source="DOID:6334"} ! optic nerve neoplasm
property_value: exactMatch DOID:6334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332308
property_value: exactMatch NCIT:C7538

[Term]
id: MONDO:0003859
name: bilateral meningioma of optic nerve
def: "Meningiomas that affects both optic nerves." [NCIT:C5304]
synonym: "bilateral meningioma of the optic nerve" EXACT [DOID:6335, NCIT:C5304]
synonym: "bilateral optic nerve meningioma" EXACT [NCIT:C5304]
xref: DOID:6335 {source="MONDO:equivalentTo"}
xref: NCIT:C5304 {source="DOID:6335", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332551 {source="DOID:6335", source="MONDO:equivalentTo", source="NCIT:C5304"}
is_a: MONDO:0002640 {source="DOID:6335", source="NCIT:C5304"} ! optic nerve neoplasm
is_a: MONDO:0024648 {source="NCIT:C5304"} ! optic tract meningioma
property_value: exactMatch DOID:6335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332551
property_value: exactMatch NCIT:C5304

[Term]
id: MONDO:0003860
name: cerebellopontine angle meningioma
def: "A meningioma that affects the cerebellopontine angle." [NCIT:P378]
synonym: "C-P angle meningioma" EXACT [NCIT:C5300]
synonym: "cerebellar Pontine angle meningioma" EXACT [NCIT:C5300]
synonym: "cerebellopontine angle meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of cerebellopontine angle" EXACT []
synonym: "meningioma of C-P angle" EXACT [NCIT:C5300]
synonym: "meningioma of cerebellar Pontine angle" EXACT [NCIT:C5300]
synonym: "meningioma of cerebellopontine angle" EXACT [NCIT:C5300]
synonym: "meningioma of the C-P angle" EXACT [NCIT:C5300]
synonym: "meningioma of the cerebellar Pontine angle" EXACT [DOID:6337, NCIT:C5300]
synonym: "meningioma of the cerebellopontine angle" EXACT [NCIT:C5300]
xref: DOID:6337 {source="MONDO:equivalentTo"}
xref: NCIT:C5300 {source="DOID:6337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:126948004 {source="DOID:6337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1263882 {source="DOID:6337", source="MONDO:equivalentTo", source="NCIT:C5300"}
is_a: MONDO:0000642 {source="DOID:6337", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain meningioma
is_a: MONDO:0002553 {source="DOID:6337", source="MONDO:Redundant", source="NCIT:C5300", source="linkedlifedata"} ! cerebellopontine angle tumor
property_value: exactMatch DOID:6337
property_value: exactMatch http://identifiers.org/snomedct/126948004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263882
property_value: exactMatch NCIT:C5300

[Term]
id: MONDO:0003861
name: vulvar eccrine adenocarcinoma
def: "An eccrine adenocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40305]
synonym: "eccrine carcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar eccrine adenocarcinoma" EXACT [NCIT:C40305]
xref: DOID:6339 {source="MONDO:equivalentTo"}
xref: NCIT:C40305 {source="MONDO:equivalentTo", source="DOID:6339", source="exact-label-match"}
xref: UMLS:C2202743 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40305", source="MONDO:equivalentTo"}
is_a: MONDO:0024240 {source="MONDO:Redundant", source="MONDOLEX:0003861", source="NCIT:C40305"} ! eccrine carcinoma
is_a: MONDO:0024336 {source="DOID:6339", source="MONDO:Redundant", source="NCIT:C40305/inferred"} ! vulvar adenocarcinoma
property_value: exactMatch DOID:6339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2202743
property_value: exactMatch NCIT:C40305

[Term]
id: MONDO:0003862
name: melanotic psammomatous malignant peripheral nerve sheath tumor
def: "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." [NCIT:P378]
synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910]
synonym: "melanocytic psammomatous MPNST" EXACT [NCIT:C6910]
synonym: "melanotic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910]
xref: DOID:6344 {source="MONDO:equivalentTo"}
xref: NCIT:C6910 {source="DOID:6344", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1513101 {source="DOID:6344", source="MONDO:equivalentTo", source="NCIT:C6910"}
is_a: MONDO:0003863 {source="DOID:6344", source="NCIT:C6910"} ! malignant melanocytic neoplasm of the peripheral nerve sheath
property_value: exactMatch DOID:6344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513101
property_value: exactMatch NCIT:C6910

[Term]
id: MONDO:0003863
name: malignant melanocytic neoplasm of the peripheral nerve sheath
def: "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin." [NCIT:P378]
synonym: "malignant melanocytic neoplasm of peripheral nerve sheath" EXACT [NCIT:C4748]
synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [NCIT:C4748]
synonym: "malignant melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C4748]
synonym: "malignant melanotic peripheral nerve sheath tumor" EXACT [NCIT:C4748]
synonym: "melanocytic MPNST" EXACT [DOID:6345, NCIT:C4748]
synonym: "melanotic malignant nerve sheath tumor" EXACT [DOID:6345]
synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT [DOID:6345]
synonym: "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:6345]
synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT [DOID:6345]
xref: DOID:6345 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4748 {source="DOID:6345", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:404039004 {source="DOID:6345", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0474847 {source="DOID:6345", source="MONDO:equivalentTo", source="NCIT:C4748"}
is_a: MONDO:0017827 {source="DOID:6345", source="MONDOLEX:0003863", source="NCIT:C4748", source="linkedlifedata"} ! malignant peripheral nerve sheath tumor
property_value: closeMatch http://identifiers.org/snomedct/253094006
property_value: closeMatch http://identifiers.org/snomedct/253095007
property_value: exactMatch DOID:6345
property_value: exactMatch http://identifiers.org/snomedct/404039004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474847
property_value: exactMatch NCIT:C4748

[Term]
id: MONDO:0003864
name: chronic lymphocytic leukemia/small lymphocytic lymphoma
def: "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood." [NCIT:C27911]
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [DOID:6354, NCIT:C27911]
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" EXACT [DOID:6354]
synonym: "CLL/SLL" EXACT [NCIT:C27911]
xref: DOID:6354 {source="MONDO:equivalentTo"}
xref: ICDO:9823/3 {source="NCIT:C27911"}
xref: NCIT:C27911 {source="MONDO:equivalentTo", source="DOID:6354"}
xref: ONCOTREE:CLLSLL {source="MONDO:equivalentTo"}
xref: UMLS:C1302547 {source="MONDO:equivalentTo", source="NCIT:C27911", source="DOID:6354"}
is_a: MONDO:0004948 {source="DOID:6354", source="MONDOLEX:0003864"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://identifiers.org/snomedct/399607007
property_value: closeMatch NCIT:C7540
property_value: exactMatch DOID:6354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302547
property_value: exactMatch NCIT:C27911

[Term]
id: MONDO:0003865
name: acral lentiginous melanoma (disease)
def: "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." [NCIT:C4022]
comment: Editor note: check ONCOTREE mapping
synonym: "acral lentiginous malignant melanoma" EXACT [NCIT:C4022]
synonym: "acral lentiginous malignant melanoma of skin" RELATED [GARD:0009570]
synonym: "acral lentiginous melanoma" EXACT [MONDO:ambiguous]
synonym: "acral lentiginous melanoma, malignant" EXACT [DOID:6367]
synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [DOID:6367]
synonym: "acral melanoma" RELATED [ONCOTREE:ACRM]
synonym: "ALM" RELATED [GARD:0009570]
synonym: "malignant acral lentiginous melanoma" EXACT [DOID:6367]
synonym: "palmar/plantar melanoma" RELATED [GARD:0009570]
synonym: "subungual melanoma" RELATED [GARD:0009570]
xref: DOID:6367 {source="MONDO:equivalentTo"}
xref: GARD:0009570 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0012060 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:8744/3 {source="NCIT:C4022"}
xref: NCIT:C4022 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.14"}
xref: ONCOTREE:ACRM {source="MONDO:equivalentTo"}
xref: SCTID:254732008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346037 {source="NCIT:C4022", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005012 {source="DOID:6367", source="MONDOLEX:0003865", source="NCIT:C4022"} ! cutaneous melanoma (disease)
property_value: exactMatch DOID:6367
property_value: exactMatch http://identifiers.org/snomedct/254732008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346037
property_value: exactMatch NCIT:C4022

[Term]
id: MONDO:0003866
name: liver extraskeletal osteosarcoma
def: "An osteosarcoma arising from the liver." [NCIT:C5833]
synonym: "hepatic extraskeletal osteosarcoma" EXACT [NCIT:C5833]
synonym: "hepatic osteogenic sarcoma" EXACT [NCIT:C5833]
synonym: "hepatic osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver extraskeletal osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver osteogenic sarcoma" EXACT [NCIT:C5833]
synonym: "liver osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of liver" EXACT [NCIT:C5833]
synonym: "osteogenic sarcoma of the liver" EXACT [NCIT:C5833]
synonym: "osteosarcoma of liver" EXACT [DOID:6370, NCIT:C5833]
synonym: "osteosarcoma of the liver" EXACT [NCIT:C5833]
xref: DOID:6370 {source="MONDO:equivalentTo"}
xref: NCIT:C5833 {source="MONDO:equivalentTo", source="DOID:6370"}
xref: UMLS:C1333974 {source="MONDO:equivalentTo", source="DOID:6370", source="NCIT:C5833"}
is_a: MONDO:0002397 {source="DOID:6370", source="MONDO:Redundant", source="NCIT:C5833"} ! liver sarcoma
is_a: MONDO:0002621 {source="DOID:6370", source="MONDOLEX:0003866", source="NCIT:C5833"} ! extraosseous osteosarcoma
property_value: exactMatch DOID:6370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333974
property_value: exactMatch NCIT:C5833

[Term]
id: MONDO:0003867
name: diffuse meningeal melanocytosis
def: "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" [NCIT:P378]
synonym: "diffuse melanocytosis" EXACT [NCIT:C6890]
synonym: "diffuse melanocytosis (morphologic abnormality)" EXACT [DOID:6379]
synonym: "diffuse melanosis" EXACT [DOID:6379, NCIT:C6890]
synonym: "meningeal melanocytosis" EXACT [NCIT:C6890]
xref: DOID:6379 {source="MONDO:equivalentTo"}
xref: EFO:1000216 {source="MONDO:equivalentTo"}
xref: ICDO:8728/0 {source="NCIT:C6890"}
xref: NCIT:C6890 {source="DOID:6379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1266112 {source="NCIT:C6890", source="DOID:6379", source="MONDO:equivalentTo"}
is_a: MONDO:0003222 {source="DOID:6379", source="NCIT:C6890/inferred"} ! central nervous system melanocytic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128729004
property_value: exactMatch DOID:6379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266112
property_value: exactMatch NCIT:C6890

[Term]
id: MONDO:0003868
name: anterior foramen magnum meningioma
def: "A meningioma that affects the anterior foramen magnum." [NCIT:P378]
synonym: "meningioma of anterior Foramen magnum" EXACT [NCIT:C5281]
synonym: "meningioma of the anterior Foramen magnum" EXACT [DOID:6381, NCIT:C5281]
xref: DOID:6381 {source="MONDO:equivalentTo"}
xref: NCIT:C5281 {source="MONDO:equivalentTo", source="DOID:6381", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332302 {source="MONDO:equivalentTo", source="DOID:6381", source="NCIT:C5281"}
is_a: MONDO:0003109 {source="DOID:6381", source="NCIT:C5281"} ! foramen magnum meningioma
property_value: exactMatch DOID:6381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332302
property_value: exactMatch NCIT:C5281

[Term]
id: MONDO:0003869
name: childhood brain stem glioma
def: "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." [NCIT:C9042]
subset: gard_rare {source="GARD:0009306"}
synonym: "brain stem glioma" EXACT [NCIT:C9042]
synonym: "brain stem glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem glioma" EXACT [NCIT:C9042]
synonym: "childhood brainstem glioma" EXACT [NCIT:C9042]
synonym: "childhood glioma of brain stem" EXACT [NCIT:C9042]
synonym: "childhood glioma of brainstem" EXACT [NCIT:C9042]
synonym: "childhood glioma of the brain stem" EXACT [NCIT:C9042]
synonym: "childhood glioma of the brainstem" EXACT [NCIT:C9042]
synonym: "pediatric brain stem glioma" EXACT [MONDO:patterns/childhood, NCIT:C9042]
synonym: "pediatric brain stem glioma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric brainstem glioma" EXACT [NCIT:C9042]
synonym: "pediatric glioma of brain stem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of brainstem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of the brain stem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of the brainstem" EXACT [DOID:6383, NCIT:C9042]
xref: DOID:6383 {source="MONDO:equivalentTo"}
xref: GARD:0009306 {source="MONDO:equivalentTo"}
xref: NCIT:C9042 {source="MONDO:equivalentTo", source="DOID:6383"}
xref: UMLS:C0278600 {source="MONDO:equivalentTo", source="DOID:6383", source="NCIT:C9042"}
is_a: MONDO:0002911 {source="MONDO:Redundant", source="NCIT:C9042"} ! brain stem glioma
is_a: MONDO:0002914 {source="DOID:6383", source="MONDO:Redundant", source="NCIT:C9042"} ! childhood brain stem neoplasm
property_value: exactMatch DOID:6383
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278600
property_value: exactMatch NCIT:C9042
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma xsd:anyURI {source="GARD:0009306"}

[Term]
id: MONDO:0003870
name: childhood brainstem astrocytoma
def: "An astrocytoma that arises from the brain stem and occurs during childhood." [NCIT:P378]
synonym: "brain stem astrocytic neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern]
synonym: "childhood brain stem astrocytoma" EXACT [NCIT:C6216]
synonym: "childhood brainstem astrocytoma" EXACT [NCIT:C6216]
synonym: "pediatric brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric brain stem astrocytic neoplasm" RELATED [MONDO:patterns/childhood]
xref: DOID:6386 {source="MONDO:equivalentTo"}
xref: NCIT:C6216 {source="MONDO:equivalentTo", source="DOID:6386", source="MONDO:kboom-pr-1.00/0.92/19.11"}
xref: UMLS:C1332950 {source="MONDO:equivalentTo", source="NCIT:C6216", source="DOID:6386"}
is_a: MONDO:0002505 ! childhood astrocytic tumor
is_a: MONDO:0003173 {source="MONDO:Redundant", source="NCIT:C6216"} ! brain stem astrocytic neoplasm
is_a: MONDO:0003869 {source="DOID:6386", source="MONDO:Redundant", source="NCIT:C6216"} ! childhood brain stem glioma
property_value: exactMatch DOID:6386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332950
property_value: exactMatch NCIT:C6216

[Term]
id: MONDO:0003871
name: obsolete metanephric adenoma
is_obsolete: true
replaced_by: MONDO:0006301

[Term]
id: MONDO:0003872
name: ovarian papillary cystadenoma
def: "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." [NCIT:C7278]
synonym: "ovarian papillary cystadenoma" EXACT [NCIT:C7278]
xref: DOID:6405 {source="MONDO:equivalentTo"}
xref: NCIT:C7278 {source="MONDO:equivalentTo", source="DOID:6405", source="exact-label-match"}
xref: UMLS:C1335175 {source="NCIT:C7278", source="MONDO:equivalentTo", source="DOID:6405"}
is_a: MONDO:0002533 ! papillary adenoma
is_a: MONDO:0003813 {source="DOID:6405", source="NCIT:C7278"} ! ovarian papillary tumor
is_a: MONDO:0005183 {source="DOID:6405", source="NCIT:C7278/inferred"} ! ovarian cystadenoma
property_value: exactMatch DOID:6405
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335175
property_value: exactMatch NCIT:C7278

[Term]
id: MONDO:0003873
name: ovarian surface papilloma
def: "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." [NCIT:C7279]
synonym: "ovarian surface papilloma" EXACT [NCIT:C7279]
xref: DOID:6407 {source="MONDO:equivalentTo"}
xref: NCIT:C7279 {source="MONDO:equivalentTo", source="DOID:6407", source="exact-label-match"}
xref: UMLS:C1335183 {source="NCIT:C7279", source="MONDO:equivalentTo", source="DOID:6407"}
is_a: MONDO:0000646 {source="MONDO:Redundant", source="NCIT:C7279/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002362 {source="NCIT:C7279"} ! serous surface papilloma
is_a: MONDO:0003813 {source="DOID:6407", source="NCIT:C7279"} ! ovarian papillary tumor
property_value: exactMatch DOID:6407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335183
property_value: exactMatch NCIT:C7279

[Term]
id: MONDO:0003874
name: ovarian serous surface papillary adenocarcinoma
def: "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." [NCIT:C6256]
synonym: "ovarian serous surface papillary adenocarcinoma" EXACT [NCIT:C6256]
synonym: "ovary papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "serous surface papillary carcinoma of ovary" EXACT [DOID:6408, NCIT:C6256]
synonym: "serous surface papillary carcinoma of the ovary" EXACT [NCIT:C6256]
xref: DOID:6408 {source="MONDO:equivalentTo"}
xref: NCIT:C6256 {source="MONDO:equivalentTo", source="DOID:6408"}
xref: UMLS:C1335178 {source="NCIT:C6256", source="MONDO:equivalentTo", source="DOID:6408"}
is_a: MONDO:0002512 ! papillary adenocarcinoma
is_a: MONDO:0003813 {source="DOID:6408", source="NCIT:C6256"} ! ovarian papillary tumor
is_a: MONDO:0005211 {source="NCIT:C6256"} ! ovarian serous adenocarcinoma
property_value: exactMatch DOID:6408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335178
property_value: exactMatch NCIT:C6256

[Term]
id: MONDO:0003875
name: childhood central nervous system mature teratoma
def: "A mature teratoma that arises from the central nervous system during childhood." [NCIT:C27404]
synonym: "central nervous system mature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system mature teratoma" EXACT [NCIT:C27404]
synonym: "pediatric central nervous system mature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric central nervous system mature teratoma" RELATED [MONDO:patterns/childhood]
xref: DOID:6423 {source="MONDO:equivalentTo"}
xref: NCIT:C27404 {source="DOID:6423", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332955 {source="DOID:6423", source="MONDO:equivalentTo", source="NCIT:C27404"}
is_a: MONDO:0003733 {source="DOID:6423", source="MONDO:Redundant", source="MONDOLEX:0003875", source="NCIT:C27404"} ! central nervous system mature teratoma
is_a: MONDO:0003750 ! childhood central nervous system germ cell tumor
property_value: exactMatch DOID:6423
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332955
property_value: exactMatch NCIT:C27404

[Term]
id: MONDO:0003876
name: eyelid carcinoma
def: "A carcinoma that arises from epithelial cells of the eyelid." [MONDO:DesignPattern]
synonym: "carcinoma of eyelid" EXACT [MONDO:patterns/carcinoma, NCIT:C6078]
synonym: "carcinoma of the eyelid" EXACT [DOID:6425, NCIT:C6078]
synonym: "eyelid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6078]
xref: DOID:6425 {source="MONDO:equivalentTo"}
xref: NCIT:C6078 {source="DOID:6425", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0920196 {source="DOID:6425", source="MONDO:equivalentTo"}
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C6078", source="OWLReasoner:2017"} ! eye carcinoma
is_a: MONDO:0002656 {source="DOID:6425", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
is_a: MONDO:0021313 {source="MONDO:Redundant", source="NCIT:C6078"} ! eyelid cancer
property_value: exactMatch DOID:6425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0920196
property_value: exactMatch NCIT:C6078

[Term]
id: MONDO:0003877
name: obsolete cervical adenoid basal carcinoma
is_obsolete: true
replaced_by: MONDO:0006132

[Term]
id: MONDO:0003878
name: malignant choroid melanoma
alt_id: MONDO:0021436
def: "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." [NCIT:P378]
synonym: "choroid malignant melanoma" EXACT [NCIT:C4561]
synonym: "choroid melanoma" EXACT [NCIT:C4561]
synonym: "choroidal melanoma" EXACT [NCIT:C4561]
synonym: "malignant melanoma of choroid" EXACT [NCIT:C4561]
synonym: "malignant melanoma of the choroid" EXACT [NCIT:C4561]
synonym: "melanoma (disease) of optic choroid" EXACT []
synonym: "melanoma of choroid" EXACT [NCIT:C4561]
synonym: "melanoma of the choroid" EXACT [DOID:6438, NCIT:C4561]
synonym: "optic choroid melanoma" EXACT []
synonym: "optic choroid melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6438 {source="MONDO:equivalentTo"}
xref: NCIT:C4561 {source="MONDO:equivalentTo", source="DOID:6438", source="MONDO:kboom-pr-0.93/0.83/0.63"}
xref: SCTID:255021005 {source="MONDO:equivalentTo", source="DOID:6438", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346388 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4561", source="MONDO:equivalentTo", source="DOID:6438"}
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C4561"} ! uveal melanoma
is_a: MONDO:0006700 {source="DOID:6438", source="MONDO:Redundant", source="NCIT:C4561", source="linkedlifedata"} ! choroid cancer
property_value: exactMatch DOID:6438
property_value: exactMatch http://identifiers.org/snomedct/255021005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346388
property_value: exactMatch NCIT:C4561

[Term]
id: MONDO:0003879
name: ovarian endometrioid adenocarcinofibroma
def: "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma." [NCIT:C40060, NCIT:P378]
synonym: "ovarian endometrioid adenocarcinofibroma" EXACT [NCIT:C40060]
synonym: "ovarian endometrioid malignant adenofibroma" EXACT [NCIT:C40060]
xref: DOID:6445 {source="MONDO:equivalentTo"}
xref: ICDO:8381/3 {source="NCIT:C40060"}
xref: NCIT:C40060 {source="DOID:6445", source="MONDO:equivalentTo"}
xref: UMLS:C1518711 {source="DOID:6445", source="NCIT:C40060", source="MONDO:equivalentTo"}
is_a: MONDO:0002991 ! adenocarcinofibroma
is_a: MONDO:0008170 ! ovarian cancer
relationship: excluded_subClassOf MONDO:0003792 {source="DOID:6445"} ! ovarian carcinosarcoma
property_value: exactMatch DOID:6445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518711
property_value: exactMatch NCIT:C40060

[Term]
id: MONDO:0003880
name: ceruminous carcinoma
def: "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." [NCIT:P378]
synonym: "carcinoma, ceruminous gland, malignant" EXACT [NCIT:C4176]
synonym: "ceruminous adenocarcinoma" EXACT [DOID:6446, NCIT:C4176]
synonym: "ceruminous adenocarcinoma (morphologic abnormality)" EXACT [DOID:6446]
xref: DOID:6446 {source="MONDO:equivalentTo"}
xref: ICDO:8420/3 {source="NCIT:C4176"}
xref: NCIT:C4176 {source="DOID:6446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334353 {source="DOID:6446", source="NCIT:C4176", source="MONDO:equivalentTo"}
is_a: MONDO:0002944 {source="NCIT:C4176"} ! external ear carcinoma
is_a: MONDO:0003214 {source="DOID:6446", source="NCIT:C4176"} ! apocrine adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/58069009
property_value: exactMatch DOID:6446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334353
property_value: exactMatch NCIT:C4176

[Term]
id: MONDO:0003881
name: vulvar apocrine adenocarcinoma
def: "An apocrine adenocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40308]
synonym: "apocrine adenocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva apocrine adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar apocrine adenocarcinoma" EXACT [NCIT:C40308]
xref: DOID:6448 {source="MONDO:equivalentTo"}
xref: NCIT:C40308 {source="DOID:6448", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2202741 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40308", source="MONDO:equivalentTo"}
is_a: MONDO:0003214 {source="MONDO:Redundant", source="NCIT:C40308"} ! apocrine adenocarcinoma
is_a: MONDO:0024336 {source="DOID:6448", source="MONDO:Redundant", source="NCIT:C40308/inferred"} ! vulvar adenocarcinoma
property_value: exactMatch DOID:6448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2202741
property_value: exactMatch NCIT:C40308

[Term]
id: MONDO:0003882
name: central nervous system fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5465]
synonym: "central nervous system fibrosarcoma" EXACT [NCIT:C5465]
synonym: "central nervous system fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS fibrosarcoma" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of central nervous system" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of CNS" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of the central nervous system" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of the CNS" EXACT [DOID:6451, NCIT:C5465]
xref: DOID:6451 {source="MONDO:equivalentTo"}
xref: NCIT:C5465 {source="MONDO:equivalentTo", source="DOID:6451", source="exact-label-match"}
xref: UMLS:C1332879 {source="MONDO:equivalentTo", source="NCIT:C5465", source="DOID:6451"}
is_a: MONDO:0002217 {source="DOID:6451", source="MONDO:Redundant", source="NCIT:C5465"} ! central nervous system sarcoma
is_a: MONDO:0005164 {source="DOID:6451", source="MONDO:Redundant", source="MONDOLEX:0003882", source="NCIT:C5465/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:6451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332879
property_value: exactMatch NCIT:C5465

[Term]
id: MONDO:0003883
name: obsolete cerebellar liponeurocytoma
is_obsolete: true
replaced_by: MONDO:0016728

[Term]
id: MONDO:0003884
name: lipoma of the rectum
def: "A benign adipose tissue neoplasm of the rectum." [NCIT:P378]
synonym: "lipoma of rectum" EXACT [DOID:6459, NCIT:C5551]
synonym: "rectal lipoma" EXACT [NCIT:C5551]
synonym: "rectum lipoma" EXACT [MONDO:patterns/location]
xref: DOID:6459 {source="MONDO:equivalentTo"}
xref: NCIT:C5551 {source="DOID:6459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335684 {source="DOID:6459", source="NCIT:C5551", source="MONDO:equivalentTo"}
is_a: MONDO:0003885 {source="DOID:6459", source="MONDO:Redundant", source="NCIT:C5551"} ! colorectal lipoma
is_a: MONDO:0021462 {source="MONDO:Redundant", source="NCIT:C5551"} ! benign neoplasm of rectum
property_value: exactMatch DOID:6459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335684
property_value: exactMatch NCIT:C5551

[Term]
id: MONDO:0003885
name: colorectal lipoma
def: "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." [NCIT:C5678]
synonym: "colorectal lipoma" EXACT [NCIT:C5678]
synonym: "large bowel lipoma" EXACT [NCIT:C5678]
synonym: "large intestine lipoma" EXACT [MONDO:patterns/location, NCIT:C5678]
synonym: "lipoma of large bowel" EXACT [NCIT:C5678]
synonym: "lipoma of large intestine" EXACT [DOID:6460, NCIT:C5678]
synonym: "lipoma of the large bowel" EXACT [NCIT:C5678]
synonym: "lipoma of the large intestine" EXACT [NCIT:C5678]
xref: DOID:6460 {source="MONDO:equivalentTo"}
xref: NCIT:C5678 {source="MONDO:equivalentTo", source="DOID:6460"}
xref: UMLS:C1333114 {source="MONDO:equivalentTo", source="DOID:6460", source="NCIT:C5678"}
is_a: MONDO:0005106 {source="DOID:6460", source="MONDO:Redundant", source="MONDOLEX:0003885", source="NCIT:C5678"} ! lipoma
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C5678"} ! benign neoplasm of large intestine
property_value: exactMatch DOID:6460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333114
property_value: exactMatch NCIT:C5678

[Term]
id: MONDO:0003886
name: mucinous cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C8979]
synonym: "mucinous cystadenofibroma" EXACT [NCIT:C8979]
xref: DOID:6468 {source="MONDO:equivalentTo"}
xref: NCIT:C8979 {source="DOID:6468", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1377844 {source="DOID:6468", source="MONDO:equivalentTo", source="NCIT:C8979"}
is_a: MONDO:0002398 {source="MONDO:Redundant", source="NCIT:C8979"} ! mucinous adenofibroma
is_a: MONDO:0003464 {source="DOID:6468", source="MONDO:Redundant", source="MONDOLEX:0003886", source="NCIT:C8979"} ! cystadenofibroma
intersection_of: MONDO:0002398 {source="NCIT:C8979"} ! mucinous adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C8979"} ! cystadenofibroma
property_value: closeMatch http://identifiers.org/snomedct/10705005
property_value: exactMatch DOID:6468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377844
property_value: exactMatch NCIT:C8979

[Term]
id: MONDO:0003887
name: ovarian mucinous adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40040]
synonym: "mucinous adenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian mucinous adenofibroma" EXACT [NCIT:C40040]
synonym: "ovary mucinous adenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:6469 {source="MONDO:equivalentTo"}
xref: NCIT:C40040 {source="DOID:6469", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518723 {source="DOID:6469", source="MONDO:equivalentTo", source="NCIT:C40040"}
is_a: MONDO:0000646 {source="DOID:6469", source="MONDO:Redundant", source="NCIT:C40040/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002229 ! ovarian epithelial tumor
is_a: MONDO:0002398 {source="MONDO:Redundant", source="MONDOLEX:0003887", source="NCIT:C40040"} ! mucinous adenofibroma
property_value: exactMatch DOID:6469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518723
property_value: exactMatch NCIT:C40040

[Term]
id: MONDO:0003888
name: childhood testicular mixed embryonal carcinoma and teratoma
def: "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." [NCIT:C6539]
synonym: "childhood teratocarcinoma of testis" RELATED [NCIT:C6539]
synonym: "childhood teratocarcinoma of the testis" RELATED [NCIT:C6539]
synonym: "childhood testicular mixed embryonal carcinoma and teratoma" EXACT [NCIT:C6539]
synonym: "childhood testicular teratocarcinoma" RELATED [NCIT:C6539]
synonym: "pediatric testicular teratocarcinoma" EXACT [DOID:6474, NCIT:C6539]
xref: DOID:6474 {source="MONDO:equivalentTo"}
xref: NCIT:C6539 {source="MONDO:equivalentTo", source="DOID:6474"}
xref: UMLS:C1333008 {source="MONDO:equivalentTo", source="NCIT:C6539", source="DOID:6474"}
is_a: MONDO:0003787 {source="DOID:6474", source="NCIT:C6539"} ! childhood testicular mixed germ cell cancer
property_value: exactMatch DOID:6474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333008
property_value: exactMatch NCIT:C6539

[Term]
id: MONDO:0003889
name: infiltrating bladder urothelial carcinoma, clear cell variant
def: "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." [NCIT:C39827]
synonym: "clear cell variant infiltrating bladder urothelial carcinoma" RELATED [DOID:6476]
synonym: "infiltrating bladder urothelial carcinoma, clear cell variant" EXACT [NCIT:C39827]
xref: DOID:6476 {source="MONDO:equivalentTo"}
xref: NCIT:C39827 {source="DOID:6476", source="MONDO:equivalentTo", source="NCIT:C39827"}
xref: UMLS:C1512737 {source="DOID:6476", source="MONDO:equivalentTo", source="NCIT:C39827"}
is_a: MONDO:0003890 {source="DOID:6476", source="MONDOLEX:0003889", source="NCIT:C39827"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:6476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512737
property_value: exactMatch NCIT:C39827

[Term]
id: MONDO:0003890
name: infiltrating bladder urothelial carcinoma
def: "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." [NCIT:C27885]
synonym: "infiltrating bladder urothelial carcinoma" EXACT [NCIT:C27885]
synonym: "infiltrating transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885]
synonym: "infiltrating transitional cell carcinoma of the urinary bladder" RELATED [NCIT:C27885]
synonym: "invasive bladder transitional cell carcinoma" EXACT [NCIT:C27885]
synonym: "invasive bladder transitional cell carcinoma" RELATED [NCIT:C27885]
synonym: "invasive bladder urothelial carcinoma" EXACT [DOID:6477, NCIT:C27885]
synonym: "invasive transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885]
xref: DOID:6477 {source="MONDO:equivalentTo"}
xref: NCIT:C27885 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"}
xref: UMLS:C1334281 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"}
is_a: MONDO:0005611 {source="DOID:6477", source="MONDOLEX:0003890", source="NCIT:C27885"} ! bladder transitional cell carcinoma
is_a: MONDO:0040678 ! infiltrating urothelial carcinoma
property_value: exactMatch DOID:6477
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334281
property_value: exactMatch NCIT:C27885

[Term]
id: MONDO:0003891
name: bladder signet ring cell adenocarcinoma
def: "A signet ring cell carcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder signet ring cell adenocarcinoma" EXACT [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of bladder" RELATED [NCIT:C6163]
synonym: "signet ring cell adenocarcinoma of bladder" RELATED [DOID:6481]
synonym: "signet Ring cell adenocarcinoma of the bladder" RELATED [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6163]
synonym: "urinary bladder signet Ring adenocarcinoma" EXACT [DOID:6481, NCIT:C6163]
synonym: "urinary bladder signet ring cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6481 {source="MONDO:equivalentTo"}
xref: NCIT:C6163 {source="NCIT:C6163", source="MONDO:equivalentTo", source="DOID:6481"}
xref: UMLS:C1332563 {source="NCIT:C6163", source="MONDO:equivalentTo", source="DOID:6481"}
is_a: MONDO:0002751 {source="DOID:6481", source="MONDO:Redundant", source="MONDOLEX:0003891", source="NCIT:C6163"} ! bladder adenocarcinoma
is_a: MONDO:0005092 {source="DOID:6481", source="MONDO:Redundant", source="MONDOLEX:0003891", source="NCIT:C6163"} ! signet ring cell carcinoma
property_value: exactMatch DOID:6481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332563
property_value: exactMatch NCIT:C6163

[Term]
id: MONDO:0003892
name: acinar lung adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" [NCIT:C5649]
synonym: "acinar adenocarcinoma of lung" EXACT [NCIT:C5649]
synonym: "acinar adenocarcinoma of the lung" EXACT [DOID:6482, NCIT:C5649]
synonym: "acinar lung adenocarcinoma" EXACT [NCIT:C5649]
synonym: "lung acinar adenocarcinoma" RELATED [DOID:6482]
xref: DOID:6482 {source="MONDO:equivalentTo"}
xref: NCIT:C5649 {source="MONDO:equivalentTo", source="DOID:6482"}
xref: UMLS:C1332137 {source="MONDO:equivalentTo", source="DOID:6482", source="NCIT:C5649"}
is_a: MONDO:0005061 {source="DOID:6482", source="MONDOLEX:0003892", source="NCIT:C5649"} ! lung adenocarcinoma
property_value: exactMatch DOID:6482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332137
property_value: exactMatch NCIT:C5649

[Term]
id: MONDO:0003893
name: rete testis adenoma
def: "A benign epithelial neoplasm arising from the rete testis." [NCIT:C39956]
synonym: "adenoma, rete testis, benign" EXACT [NCIT:C39956]
synonym: "rete testis adenoma" EXACT [MONDO:patterns/location, NCIT:C39956]
xref: DOID:6483 {source="MONDO:equivalentTo"}
xref: NCIT:C39956 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6483"}
xref: UMLS:C1514910 {source="MONDO:equivalentTo", source="NCIT:C39956", source="DOID:6483"}
is_a: MONDO:0003562 {source="DOID:6483", source="MONDO:Redundant", source="NCIT:C39956"} ! rete testis neoplasm
is_a: MONDO:0004972 {source="DOID:6483", source="MONDO:Entailed", source="MONDO:Redundant"} ! adenoma
property_value: exactMatch DOID:6483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514910
property_value: exactMatch NCIT:C39956

[Term]
id: MONDO:0003894
name: mediastinal melanocytic neurilemmoma
def: "A melanotic schwannoma that affects the mediastinum." [NCIT:P378]
synonym: "mediastinal melanocytic schwannoma" EXACT [NCIT:C6635]
synonym: "mediastinal melanotic schwannoma" EXACT [NCIT:C6635]
synonym: "melanocytic neurilemmoma of mediastinum" EXACT [NCIT:C6635]
synonym: "melanocytic neurilemmoma of the mediastinum" EXACT [NCIT:C6635]
synonym: "melanocytic schwannoma of mediastinum" EXACT [DOID:6484, NCIT:C6635]
synonym: "melanocytic schwannoma of the mediastinum" EXACT [NCIT:C6635]
xref: DOID:6484 {source="MONDO:equivalentTo"}
xref: NCIT:C6635 {source="MONDO:equivalentTo", source="DOID:6484", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334668 {source="MONDO:equivalentTo", source="NCIT:C6635", source="DOID:6484"}
is_a: MONDO:0002558 {source="DOID:6484", source="MONDOLEX:0003894", source="NCIT:C6635"} ! melanotic neurilemmoma
property_value: exactMatch DOID:6484
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334668
property_value: exactMatch NCIT:C6635

[Term]
id: MONDO:0003895
name: periosteal osteogenic sarcoma
def: "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma." [NCIT:P378]
synonym: "juxtacortical chondroblastic osteosarcoma" EXACT [NCIT:C8970]
synonym: "PEOS" RELATED [ONCOTREE:PEOS]
synonym: "periosteal osteogenic sarcoma" EXACT [DOID:6489]
synonym: "periosteal osteosarcoma" EXACT [DOID:6489, MTH:NOCODE, NCIT:C8970]
synonym: "periosteal osteosarcoma (morphologic abnormality)" EXACT [DOID:6489]
xref: DOID:6489 {source="MONDO:equivalentTo"}
xref: ICDO:9193/3 {source="NCIT:C8970"}
xref: NCIT:C8970 {source="DOID:6489", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:PEOS {source="MONDO:equivalentTo"}
xref: UMLS:C1377843 {source="DOID:6489", source="NCIT:C8970", source="MONDO:equivalentTo"}
is_a: MONDO:0002628 {source="DOID:6489", source="NCIT:C8970"} ! peripheral osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/128772005
property_value: closeMatch http://identifiers.org/snomedct/91242000
property_value: exactMatch DOID:6489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377843
property_value: exactMatch NCIT:C8970

[Term]
id: MONDO:0003896
name: breast capillary hemangioma
def: "A capillary hemangioma arising from the breast." [NCIT:C5210]
synonym: "breast capillary angioma" EXACT [NCIT:C5210]
synonym: "breast capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C5210]
synonym: "capillary angioma of breast" EXACT [DOID:6491, NCIT:C5210]
synonym: "capillary angioma of the breast" EXACT [NCIT:C5210]
synonym: "capillary hemangioma of breast" EXACT [NCIT:C5210]
synonym: "capillary hemangioma of the breast" EXACT [NCIT:C5210]
xref: DOID:6491 {source="MONDO:equivalentTo"}
xref: NCIT:C5210 {source="MONDO:equivalentTo", source="DOID:6491", source="exact-label-match"}
xref: UMLS:C1332619 {source="NCIT:C5210", source="MONDO:equivalentTo", source="DOID:6491"}
is_a: MONDO:0002407 {source="DOID:6491", source="MONDO:Redundant", source="MONDOLEX:0003896", source="NCIT:C5210"} ! capillary hemangioma
is_a: MONDO:0003126 {source="DOID:6491", source="MONDO:Redundant", source="MONDOLEX:0003896", source="NCIT:C5210"} ! breast hemangioma
relationship: excluded_subClassOf MONDO:0002064 {source="DOID:6491"} ! breast angiomatosis
property_value: exactMatch DOID:6491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332619
property_value: exactMatch NCIT:C5210

[Term]
id: MONDO:0003897
name: breast epithelioid hemangioma
def: "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast." [NCIT:C5211]
synonym: "breast epithelioid hemangioma" EXACT [NCIT:C5211]
synonym: "breast histiocytoid hemangioma" EXACT [DOID:6492, MONDO:patterns/location, NCIT:C5211]
synonym: "epithelioid breast hemangioma" EXACT [NCIT:C5211]
synonym: "epithelioid hemangioma of breast" EXACT [NCIT:C5211]
synonym: "epithelioid hemangioma of the breast" EXACT [NCIT:C5211]
synonym: "histiocytoid breast hemangioma" EXACT [NCIT:C5211]
synonym: "histiocytoid hemangioma of breast" EXACT [NCIT:C5211]
synonym: "histiocytoid hemangioma of the breast" EXACT [NCIT:C5211]
xref: DOID:6492 {source="MONDO:equivalentTo"}
xref: NCIT:C5211 {source="MONDO:equivalentTo", source="DOID:6492", source="exact-label-match"}
xref: UMLS:C1332627 {source="NCIT:C5211", source="MONDO:equivalentTo", source="DOID:6492"}
is_a: MONDO:0003126 {source="DOID:6492", source="MONDO:Redundant", source="MONDOLEX:0003897", source="NCIT:C5211"} ! breast hemangioma
is_a: MONDO:0021169 {source="DOID:6492", source="MONDO:Redundant", source="MONDOLEX:0003897", source="NCIT:C5211"} ! epithelioid hemangioma
property_value: exactMatch DOID:6492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332627
property_value: exactMatch NCIT:C5211

[Term]
id: MONDO:0003898
name: pediatric myxoid chondrosarcoma
def: "A myxoid chondrosarcoma occurring in children." [NCIT:P378]
synonym: "childhood myxoid chondrosarcoma" EXACT [NCIT:C27377]
synonym: "myxoid chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric myxoid chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27377]
xref: DOID:6494 {source="MONDO:equivalentTo"}
xref: NCIT:C27377 {source="MONDO:equivalentTo", source="DOID:6494", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332984 {source="NCIT:C27377", source="MONDO:equivalentTo", source="DOID:6494"}
is_a: MONDO:0003681 {source="DOID:6494", source="MONDO:Redundant", source="MONDOLEX:0003898", source="NCIT:C27377"} ! myxoid chondrosarcoma
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C27377"} ! childhood malignant neoplasm
property_value: exactMatch DOID:6494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332984
property_value: exactMatch NCIT:C27377

[Term]
id: MONDO:0003899
name: adult myxoid chondrosarcoma
def: "A myxoid chondrosarcoma occurring in adults." [NCIT:C27378]
synonym: "adult myxoid chondrosarcoma" EXACT [NCIT:C27378]
synonym: "myxoid chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6495 {source="MONDO:equivalentTo"}
xref: NCIT:C27378 {source="MONDO:equivalentTo", source="DOID:6495", source="exact-label-match"}
xref: UMLS:C1332209 {source="NCIT:C27378", source="MONDO:equivalentTo", source="DOID:6495"}
is_a: MONDO:0003681 {source="DOID:6495", source="MONDO:Redundant", source="MONDOLEX:0003899", source="NCIT:C27378"} ! myxoid chondrosarcoma
property_value: exactMatch DOID:6495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332209
property_value: exactMatch NCIT:C27378

[Term]
id: MONDO:0003900
name: connective tissue disease
def: "A disease involving the connective tissue." [MONDO:DesignPattern]
synonym: "connective tissue disease" EXACT [MONDO:patterns/location]
synonym: "connective tissue disease or disorder" EXACT [MONDO:patterns/location]
synonym: "connective tissue diseases" EXACT [NCIT:C26729]
synonym: "connective tissue disorder" EXACT [CSP2005:0729-7208, DOID:65]
synonym: "connective tissue disorders" EXACT [NCIT:C26729]
synonym: "disease of connective tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of connective tissue" EXACT []
synonym: "disease, connective tissue" EXACT [NCIT:C26729]
synonym: "disorder of connective tissue" EXACT [DOID:65, MONDO:patterns/location_top]
synonym: "disorder of connective tissue" RELATED [MONDO:patterns/location_top]
synonym: "primary disorder of connective tissue" EXACT [NCIT:C26729]
synonym: "tissue disease, connective" EXACT [NCIT:C26729]
xref: COHD:253549 {source="MONDO:equivalentTo"}
xref: DOID:65 {source="MONDO:equivalentTo"}
xref: MESH:D003240 {source="DOID:65", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26729 {source="DOID:65", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.38"}
xref: SCTID:105969002 {source="DOID:65", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.39"}
xref: UMLS:C0009782 {source="NCIT:C26729", source="DOID:65", source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
relationship: excluded_subClassOf MONDO:0002081 {source="DOID:65"} ! musculoskeletal system disease
property_value: closeMatch http://identifiers.org/snomedct/201432001
property_value: closeMatch http://identifiers.org/snomedct/268048008
property_value: closeMatch http://identifiers.org/snomedct/268126004
property_value: exactMatch DOID:65
property_value: exactMatch http://identifiers.org/mesh/D003240
property_value: exactMatch http://identifiers.org/snomedct/105969002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009782
property_value: exactMatch NCIT:C26729

[Term]
id: MONDO:0003901
name: cerebellar hemangioblastoma
def: "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." [NCIT:C5146]
synonym: "angioblastoma of cerebellum" EXACT [NCIT:C5146]
synonym: "angioblastoma of the cerebellum" EXACT [NCIT:C5146]
synonym: "cerebellar angioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellar capillary hemangioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellar hemangioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellum hemangioblastoma" EXACT [MONDO:patterns/location]
synonym: "hemangioblastoma of cerebellum" EXACT [DOID:6500, NCIT:C5146]
synonym: "hemangioblastoma of the cerebellum" EXACT [NCIT:C5146]
xref: DOID:6500 {source="MONDO:equivalentTo"}
xref: NCIT:C5146 {source="DOID:6500", source="MONDO:equivalentTo"}
xref: UMLS:C1332900 {source="DOID:6500", source="MONDO:equivalentTo", source="NCIT:C5146"}
is_a: MONDO:0002328 ! intracranial hemangioma
is_a: MONDO:0016748 {source="DOID:6500", source="MONDO:Redundant", source="NCIT:C5146/inferred"} ! hemangioblastoma
is_a: MONDO:0021499 ! benign neoplasm of cerebellum
property_value: exactMatch DOID:6500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332900
property_value: exactMatch NCIT:C5146

[Term]
id: MONDO:0003902
name: brain stem hemangioblastoma
def: "A hemangioblastoma that involves the brainstem." [MONDO:patterns/location]
synonym: "angioblastoma of brain stem" EXACT [NCIT:C5147]
synonym: "angioblastoma of brainstem" EXACT [NCIT:C5147]
synonym: "angioblastoma of the brain stem" EXACT [NCIT:C5147]
synonym: "angioblastoma of the brainstem" EXACT [NCIT:C5147]
synonym: "brain stem angioblastoma" EXACT [NCIT:C5147]
synonym: "brain stem capillary hemangioblastoma" EXACT [NCIT:C5147]
synonym: "brain stem hemangioblastoma" EXACT [NCIT:C5147]
synonym: "brainstem angioblastoma" EXACT [NCIT:C5147]
synonym: "brainstem hemangioblastoma" EXACT [MONDO:patterns/location]
synonym: "hemangioblastoma of brain stem" EXACT [NCIT:C5147]
synonym: "hemangioblastoma of brainstem" EXACT [DOID:6501, NCIT:C5147]
synonym: "hemangioblastoma of the brain stem" EXACT [NCIT:C5147]
synonym: "hemangioblastoma of the brainstem" EXACT [NCIT:C5147]
xref: DOID:6501 {source="MONDO:equivalentTo"}
xref: NCIT:C5147 {source="DOID:6501", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332611 {source="DOID:6501", source="MONDO:equivalentTo", source="NCIT:C5147"}
is_a: MONDO:0002328 ! intracranial hemangioma
is_a: MONDO:0016748 {source="DOID:6501", source="MONDO:Redundant", source="NCIT:C5147/inferred"} ! hemangioblastoma
is_a: MONDO:0021507 ! benign neoplasm of brain stem
property_value: exactMatch DOID:6501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332611
property_value: exactMatch NCIT:C5147

[Term]
id: MONDO:0003903
name: benign vaginal mixed tumor
def: "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." [NCIT:C40280]
synonym: "benign vaginal mixed tumor" EXACT [NCIT:C40280]
synonym: "vaginal spindle cell epithelioma" EXACT [NCIT:C40280]
xref: DOID:6505 {source="MONDO:equivalentTo"}
xref: NCIT:C40280 {source="DOID:6505", source="MONDO:equivalentTo"}
xref: UMLS:C1511107 {source="NCIT:C40280", source="DOID:6505", source="MONDO:equivalentTo"}
is_a: MONDO:0001731 {source="DOID:6505", source="NCIT:C40280"} ! benign vaginal mixed epithelial and mesenchymal neoplasm
property_value: exactMatch DOID:6505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511107
property_value: exactMatch NCIT:C40280

[Term]
id: MONDO:0003904
name: lung occult squamous cell carcinoma
def: "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:P378]
synonym: "occult squamous cell carcinoma of lung" RELATED [DOID:6510]
synonym: "occult squamous cell carcinoma of the lung" EXACT [DOID:6510, NCIT:C6686]
synonym: "occult squamous cell lung carcinoma" EXACT [NCIT:C6686]
xref: DOID:6510 {source="MONDO:equivalentTo"}
xref: NCIT:C6686 {source="DOID:6510", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335100 {source="DOID:6510", source="MONDO:equivalentTo", source="NCIT:C6686"}
is_a: MONDO:0005097 {source="DOID:6510", source="MONDOLEX:0003904", source="NCIT:C6686"} ! squamous cell lung carcinoma
property_value: exactMatch DOID:6510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335100
property_value: exactMatch NCIT:C6686

[Term]
id: MONDO:0003905
name: ovarian yolk sac tumor, glandular pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." [NCIT:C39988]
synonym: "glandular pattern ovarian yolk sac tumor" RELATED [DOID:6511]
synonym: "ovarian yolk Sac tumor, glandular pattern" EXACT [NCIT:C39988]
xref: DOID:6511 {source="MONDO:equivalentTo"}
xref: NCIT:C39988 {source="DOID:6511", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518747 {source="DOID:6511", source="MONDO:equivalentTo", source="NCIT:C39988"}
is_a: MONDO:0006344 {source="DOID:6511", source="MONDOLEX:0003905", source="NCIT:C39988"} ! ovarian yolk sac tumor
property_value: exactMatch DOID:6511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518747
property_value: exactMatch NCIT:C39988

[Term]
id: MONDO:0003906
name: ovarian yolk sac tumor, hepatoid pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." [NCIT:C39989]
synonym: "hepatoid pattern ovarian yolk sac tumor" RELATED [DOID:6512]
synonym: "ovarian yolk Sac tumor, hepatoid pattern" EXACT [NCIT:C39989]
xref: DOID:6512 {source="MONDO:equivalentTo"}
xref: NCIT:C39989 {source="DOID:6512", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518748 {source="DOID:6512", source="MONDO:equivalentTo", source="NCIT:C39989"}
is_a: MONDO:0006344 {source="DOID:6512", source="MONDOLEX:0003906", source="NCIT:C39989"} ! ovarian yolk sac tumor
property_value: exactMatch DOID:6512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518748
property_value: exactMatch NCIT:C39989

[Term]
id: MONDO:0003907
name: ovarian yolk sac tumor, polyvesicular vitelline pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." [NCIT:C39987]
synonym: "ovarian yolk sac tumor, polyvesicular vitelline pattern" EXACT [NCIT:C39987]
synonym: "polyvesicular vitelline pattern ovarian yolk sac tumor" RELATED [DOID:6514]
xref: DOID:6514 {source="MONDO:equivalentTo"}
xref: NCIT:C39987 {source="DOID:6514", source="MONDO:equivalentTo", source="NCIT:C39987"}
xref: UMLS:C1518749 {source="DOID:6514", source="MONDO:equivalentTo", source="NCIT:C39987"}
is_a: MONDO:0006344 {source="DOID:6514", source="MONDOLEX:0003907", source="NCIT:C39987"} ! ovarian yolk sac tumor
property_value: exactMatch DOID:6514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518749
property_value: exactMatch NCIT:C39987

[Term]
id: MONDO:0003908
name: clivus meningioma
def: "A meningioma that affects the clivus." [NCIT:P378]
synonym: "clivus of occipital bone meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of clivus of occipital bone" EXACT []
synonym: "meningioma of clivus" EXACT [NCIT:C5289]
synonym: "meningioma of the clivus" EXACT [DOID:6517, NCIT:C5289]
xref: DOID:6517 {source="MONDO:equivalentTo"}
xref: NCIT:C5289 {source="MONDO:equivalentTo", source="DOID:6517", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333073 {source="MONDO:equivalentTo", source="NCIT:C5289", source="DOID:6517"}
is_a: MONDO:0002919 {source="DOID:6517", source="NCIT:C5289"} ! posterior cranial fossa meningioma
is_a: MONDO:0002998 {source="DOID:6517", source="NCIT:C5289"} ! skull base meningioma
property_value: exactMatch DOID:6517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333073
property_value: exactMatch NCIT:C5289

[Term]
id: MONDO:0003909
name: Bartholin gland adenomyoma
def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture." [NCIT:P378]
synonym: "adenomyoma of major vestibular gland" EXACT [MONDO:design_pattern]
synonym: "Bartholin gland adenomyoma" EXACT [DOID:6518]
synonym: "major vestibular gland adenomyoma" EXACT [MONDO:patterns/location]
xref: DOID:6518 {source="MONDO:equivalentTo"}
xref: NCIT:C40300 {source="MONDO:equivalentTo", source="DOID:6518", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1511049 {source="MONDO:equivalentTo", source="DOID:6518", source="NCIT:C40300"}
is_a: MONDO:0002193 ! Bartholin gland benign neoplasm
is_a: MONDO:0002198 {source="NCIT:C40300"} ! vulvar glandular neoplasm
is_a: MONDO:0005635 {source="DOID:6518", source="MONDO:Entailed", source="MONDO:Redundant"} ! adenomyoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:6518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511049
property_value: exactMatch NCIT:C40300

[Term]
id: MONDO:0003910
name: mixed cell uveal melanoma
def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." [NCIT:C35781]
synonym: "mixed cell uveal melanoma" EXACT [MONDO:0006305, NCIT:C35781]
xref: DOID:6522 {source="MONDO:equivalentTo"}
xref: EFO:1000380 {source="MONDO:equivalentTo"}
xref: NCIT:C35781 {source="MONDO:kboom-pr-0.97/0.92/0.97", source="DOID:6522", source="MONDO:equivalentTo", source="EFO:1000380"}
xref: UMLS:C1334782 {source="DOID:6522", source="NCIT:C35781", source="MONDO:equivalentTo"}
is_a: MONDO:0006486 {source="DOID:6522", source="NCIT:C35781"} ! uveal melanoma
property_value: exactMatch DOID:6522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334782
property_value: exactMatch NCIT:C35781

[Term]
id: MONDO:0003911
name: ciliary body mixed cell melanoma
def: "A mixed cell uveal melanoma that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body mixed cell melanoma" EXACT [NCIT:C35783]
synonym: "ciliary body mixed cell uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "mixed cell uveal melanoma of ciliary body" EXACT [MONDO:design_pattern]
xref: DOID:6523 {source="MONDO:equivalentTo"}
xref: NCIT:C35783 {source="DOID:6523", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333051 {source="DOID:6523", source="MONDO:equivalentTo", source="NCIT:C35783"}
is_a: MONDO:0003910 {source="DOID:6523", source="MONDO:Redundant", source="MONDOLEX:0003911", source="NCIT:C35783"} ! mixed cell uveal melanoma
is_a: MONDO:0003912 {source="DOID:6523", source="MONDO:Redundant", source="NCIT:C35783"} ! malignant ciliary body melanoma
property_value: exactMatch DOID:6523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333051
property_value: exactMatch NCIT:C35783

[Term]
id: MONDO:0003912
name: malignant ciliary body melanoma
alt_id: MONDO:0021434
def: "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." [NCIT:P378]
synonym: "ciliary body malignant melanoma" EXACT [NCIT:C4558]
synonym: "ciliary body melanoma" EXACT [NCIT:C4558]
synonym: "ciliary body melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant melanoma of ciliary body" EXACT [NCIT:C4558]
synonym: "malignant melanoma of the ciliary body" EXACT [NCIT:C4558]
synonym: "melanoma (disease) of ciliary body" EXACT []
synonym: "melanoma of ciliary body" EXACT [NCIT:C4558]
synonym: "melanoma of the ciliary body" EXACT [DOID:6524, NCIT:C4558]
xref: DOID:6524 {source="MONDO:equivalentTo"}
xref: ICD9:190.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4558 {source="DOID:6524", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:255015006 {source="DOID:6524", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346379 {source="DOID:6524", source="MONDO:equivalentTo", source="NCIT:C4558"}
is_a: MONDO:0002969 {source="DOID:6524", source="MONDO:Redundant", source="NCIT:C4558", source="linkedlifedata"} ! ciliary body cancer
is_a: MONDO:0004064 ! iris melanoma
property_value: exactMatch DOID:6524
property_value: exactMatch http://identifiers.org/snomedct/255015006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346379
property_value: exactMatch NCIT:C4558

[Term]
id: MONDO:0003913
name: choroid mixed cell melanoma
def: "A mixed cell uveal melanoma that involves the optic choroid." [MONDO:patterns/location]
synonym: "choroid mixed cell melanoma" EXACT [NCIT:C35782]
synonym: "mixed cell uveal melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid mixed cell uveal melanoma" EXACT [MONDO:patterns/location]
xref: DOID:6525 {source="MONDO:equivalentTo"}
xref: NCIT:C35782 {source="DOID:6525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.97"}
xref: UMLS:C1333025 {source="DOID:6525", source="NCIT:C35782", source="MONDO:equivalentTo"}
is_a: MONDO:0003878 {source="DOID:6525", source="MONDO:Redundant", source="NCIT:C35782"} ! malignant choroid melanoma
is_a: MONDO:0003910 {source="MONDO:Redundant", source="MONDOLEX:0003913", source="NCIT:C35782"} ! mixed cell uveal melanoma
property_value: exactMatch DOID:6525
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333025
property_value: exactMatch NCIT:C35782

[Term]
id: MONDO:0003914
name: obsolete inborn purine-pyrimidine metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019254

[Term]
id: MONDO:0003915
name: cortical thymoma
def: "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently." [NCIT:P378]
synonym: "cortical thymoma" EXACT [NCIT:C6888]
synonym: "polygonal cell thymoma" EXACT [DOID:6530, NCIT:C6888]
synonym: "thymoma type B2" EXACT [NCIT:C6888]
synonym: "thymoma, cortical" EXACT [DOID:6530]
xref: DOID:6530 {source="MONDO:equivalentTo"}
xref: ICDO:8584/1 {source="NCIT:C6888"}
xref: NCIT:C6888 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.42", source="DOID:6530"}
xref: UMLS:C1266095 {source="MONDO:equivalentTo", source="NCIT:C6888", source="DOID:6530"}
is_a: MONDO:0016974 {source="DOID:6530", source="MONDOLEX:0003915", source="NCIT:C6888"} ! thymoma type B
property_value: closeMatch http://identifiers.org/snomedct/128713007
property_value: exactMatch DOID:6530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266095
property_value: exactMatch NCIT:C6888

[Term]
id: MONDO:0003916
name: overnutrition
def: "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." [MESH:D044343]
xref: DOID:654 {source="MONDO:equivalentTo"}
xref: ICD9:278.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D044343 {source="DOID:654", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:302872003 {source="DOID:654", source="MONDO:kboom-pr-0.98/0.71/4.03", source="MONDO:equivalentTo"}
xref: UMLS:C1257763 {source="DOID:654", source="MONDO:equivalentTo"}
is_a: MONDO:0005137 {source="DOID:654", source="MESH:D044343", source="linkedlifedata"} ! nutritional disorder
property_value: exactMatch DOID:654
property_value: exactMatch http://identifiers.org/mesh/D044343
property_value: exactMatch http://identifiers.org/snomedct/302872003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257763

[Term]
id: MONDO:0003917
name: heart lymphoma
def: "An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope." [NCIT:P378]
synonym: "Cardiac lymphoma" EXACT [NCIT:C5368]
synonym: "heart lymphoma" EXACT [MONDO:patterns/location, NCIT:C5368]
synonym: "lymphoma of heart" EXACT [DOID:6547, NCIT:C5368]
synonym: "lymphoma of the heart" EXACT [NCIT:C5368]
synonym: "PCL" EXACT [NCIT:C5368]
synonym: "primary Cardiac lymphoma" EXACT [NCIT:C5368]
synonym: "Primary heart lymphoma" EXACT [NCIT:C5368]
xref: DOID:6547 {source="MONDO:equivalentTo"}
xref: NCIT:C5368 {source="DOID:6547", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.97"}
xref: UMLS:C1332850 {source="DOID:6547", source="MONDO:equivalentTo", source="NCIT:C5368"}
is_a: MONDO:0001340 {source="DOID:6547", source="NCIT:C5368"} ! heart cancer
is_a: MONDO:0005062 {source="DOID:6547", source="MONDO:Redundant", source="NCIT:C5368/inferred"} ! lymphoma
property_value: exactMatch DOID:6547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332850
property_value: exactMatch NCIT:C5368

[Term]
id: MONDO:0003918
name: angiomatous meningioma
def: "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." [NCIT:C4332]
synonym: "angiomatous meningioma (morphologic abnormality)" EXACT [DOID:6548]
xref: DOID:6548 {source="MONDO:equivalentTo"}
xref: EFO:1000086 {source="MONDO:equivalentTo"}
xref: ICDO:9534/0 {source="NCIT:C4332"}
xref: NCIT:C4332 {source="MONDO:equivalentTo", source="DOID:6548", source="exact-label-match"}
xref: UMLS:C0334608 {source="MONDO:equivalentTo", source="DOID:6548", source="NCIT:C4332"}
is_a: MONDO:0016642 {source="DOID:6548", source="EFO:1000086", source="MONDOLEX:0003918", source="NCIT:C4332/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/73918009
property_value: exactMatch DOID:6548
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334608
property_value: exactMatch NCIT:C4332

[Term]
id: MONDO:0003919
name: obsolete inherited metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019052

[Term]
id: MONDO:0003920
name: obsolete gastric small cell carcinoma
synonym: "stomach small cell carcinoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0006229

[Term]
id: MONDO:0003921
name: posterior foramen magnum meningioma
def: "A meningioma that affects the posterior foramen magnum." [NCIT:P378]
synonym: "meningioma of posterior Foramen magnum" EXACT [NCIT:C5282]
synonym: "meningioma of the posterior Foramen magnum" EXACT [DOID:6553, NCIT:C5282]
xref: DOID:6553 {source="MONDO:equivalentTo"}
xref: NCIT:C5282 {source="DOID:6553", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335449 {source="DOID:6553", source="MONDO:equivalentTo", source="NCIT:C5282"}
is_a: MONDO:0003109 {source="DOID:6553", source="NCIT:C5282"} ! foramen magnum meningioma
property_value: exactMatch DOID:6553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335449
property_value: exactMatch NCIT:C5282

[Term]
id: MONDO:0003922
name: ovarian clear cell malignant adenofibroma
def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." [NCIT:C40079]
synonym: "ovarian clear cell adenocarcinofibroma" EXACT [DOID:6554, NCIT:C40079]
synonym: "ovarian clear cell malignant adenofibroma" EXACT [NCIT:C40079]
xref: DOID:6554 {source="MONDO:equivalentTo"}
xref: ICDO:8313/3 {source="NCIT:C40079"}
xref: NCIT:C40079 {source="DOID:6554", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2075522 {source="MONDO:equivalentTo", source="NCIT:C40079"}
is_a: MONDO:0000548 {source="NCIT:C40079"} ! ovarian clear cell cancer
property_value: exactMatch DOID:6554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2075522
property_value: exactMatch NCIT:C40079

[Term]
id: MONDO:0003923
name: ethmoid sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6836]
synonym: "ethmoid sinus Schneiderian papilloma" EXACT [NCIT:C6836]
synonym: "Schneiderian papilloma of ethmoid sinus" RELATED [NCIT:C6836]
synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [DOID:6559, NCIT:C6836]
xref: DOID:6559 {source="MONDO:equivalentTo"}
xref: NCIT:C6836 {source="MONDO:equivalentTo", source="DOID:6559"}
xref: UMLS:C1333476 {source="MONDO:equivalentTo", source="DOID:6559", source="NCIT:C6836"}
is_a: MONDO:0006353 {source="NCIT:C6836"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021515 {source="MONDO:Redundant", source="NCIT:C6836"} ! benign neoplasm of ethmoidal sinus
property_value: exactMatch DOID:6559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333476
property_value: exactMatch NCIT:C6836

[Term]
id: MONDO:0003924
name: adrenal cortex adenoma
alt_id: MONDO:0005248
def: "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C9003]
subset: gard_rare
synonym: "adenoma of adrenal cortex" EXACT [NCIT:C9003]
synonym: "adenoma of adrenal gland" EXACT [NCIT:C9003]
synonym: "adenoma of the adrenal cortex" EXACT [NCIT:C9003]
synonym: "adenoma of the adrenal gland" EXACT [DOID:656, NCIT:C3906, NCIT:C9003]
synonym: "adenoma, adrenocortical, benign" EXACT [NCIT:C9003]
synonym: "adrenal adenoma" EXACT [NCIT:C9003]
synonym: "adrenal cortex adenoma" EXACT [MONDO:patterns/location, NCIT:C9003]
synonym: "adrenal cortical adenoma" EXACT [NCIT:C9003]
synonym: "adrenal gland adenoma" EXACT [NCIT:C9003]
synonym: "adrenal incidentaloma" RELATED [GARD:0005745]
synonym: "adrenocortical adenoma" EXACT [GARD:0005745, NCIT:C9003]
synonym: "benign adenoma of adrenal gland" EXACT [NCIT:C9003]
synonym: "benign adenoma of the adrenal gland" EXACT [NCIT:C9003]
synonym: "benign adrenal adenoma" EXACT [NCIT:C9003]
synonym: "benign adrenal gland adenoma" EXACT [NCIT:C9003]
synonym: "cortical cell adenoma" EXACT [NCIT:C9003]
xref: DOID:0050891 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: DOID:656 {source="MONDO:equivalentTo"}
xref: EFO:0003104 {source="MONDO:equivalentTo"}
xref: GARD:0005745 {source="MONDO:equivalentTo"}
xref: HP:0008196 {source="EFO:0003104", source="MONDO:otherHierarchy", source="MONDO:obsolete"}
xref: HP:0008256 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:8370/0 {source="NCIT:C9003"}
xref: MESH:D018246 {source="EFO:0003104", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9003 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: ONCOTREE:ACA {source="MONDO:equivalentTo"}
xref: Orphanet:463 {source="MONDO:equivalentTo"}
xref: SCTID:302826002 {source="MONDO:subClassOf", source="EFO:0003104", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.45"}
xref: UMLS:C0206667 {source="NCIT:C9003", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="EFO:0003104", source="MONDO:Redundant", source="NCIT:C9003", source="linkedlifedata", source="linkedlifedata/inferred"} ! adenoma
is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C9003/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of adrenal gland
is_a: MONDO:0036591 ! adrenal cortex neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
relationship: excluded_subClassOf MONDO:0003924 {source="DOID:0050891"} ! adrenal cortex adenoma
property_value: exactMatch DOID:0050891
property_value: exactMatch DOID:656
property_value: exactMatch http://identifiers.org/mesh/D018246
property_value: exactMatch http://identifiers.org/snomedct/302826002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206667
property_value: exactMatch NCIT:C9003
property_value: exactMatch Orphanet:463

[Term]
id: MONDO:0003925
name: ethmoid sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:C6843]
synonym: "ethmoid sinus inverted papilloma" EXACT [MONDO:patterns/location]
synonym: "inverted papilloma of ethmoid sinus" EXACT [NCIT:C6843]
synonym: "inverted papilloma of the ethmoid sinus" EXACT [DOID:6562, NCIT:C6843]
xref: DOID:6562 {source="MONDO:equivalentTo"}
xref: NCIT:C6843 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6562"}
xref: UMLS:C1333474 {source="MONDO:equivalentTo", source="NCIT:C6843", source="DOID:6562"}
is_a: MONDO:0002537 {source="DOID:6562", source="MONDO:Redundant", source="MONDOLEX:0003925", source="NCIT:C6843/inferred"} ! inverted papilloma
is_a: MONDO:0003923 {source="NCIT:C6843"} ! ethmoid sinus Schneiderian papilloma
property_value: exactMatch DOID:6562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333474
property_value: exactMatch NCIT:C6843

[Term]
id: MONDO:0003926
name: neurilemmoma of the pleura
def: "A schwannoma that involves the pleura." [MONDO:patterns/location]
synonym: "neurilemmoma of pleura" EXACT [NCIT:C5418]
synonym: "pleura schwannoma" EXACT [MONDO:patterns/location]
synonym: "pleural neurilemmoma" EXACT [NCIT:C5418]
synonym: "pleural schwannoma" EXACT [NCIT:C5418]
synonym: "schwannoma of pleura" EXACT [DOID:6564, NCIT:C5418]
synonym: "schwannoma of the pleura" EXACT [NCIT:C5418]
xref: DOID:6564 {source="MONDO:equivalentTo"}
xref: NCIT:C5418 {source="DOID:6564", source="MONDO:kboom-pr-1.00/0.91/29.59", source="MONDO:equivalentTo"}
xref: UMLS:C1335435 {source="DOID:6564", source="MONDO:equivalentTo", source="NCIT:C5418"}
is_a: MONDO:0004820 {source="DOID:6564", source="NCIT:C5418"} ! peripheral nerve schwannoma
is_a: MONDO:0021065 ! pleural neoplasm
property_value: exactMatch DOID:6564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335435
property_value: exactMatch NCIT:C5418

[Term]
id: MONDO:0003927
name: posterior uveal melanoma
synonym: "medium/large size posterior uveal melanoma" NARROW [DOID:6566]
synonym: "small size posterior uveal melanoma" NARROW [DOID:6566]
xref: DOID:6566 {source="MONDO:equivalentTo"}
is_a: MONDO:0006486 {source="DOID:6566"} ! uveal melanoma
property_value: exactMatch DOID:6566

[Term]
id: MONDO:0003928
name: uterine corpus myxoid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." [NCIT:C40175]
synonym: "body of uterus myxoid leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "myxoid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus myxoid leiomyosarcoma" EXACT [NCIT:C40175]
synonym: "uterine myxoid leiomyosarcoma" RELATED [ONCOTREE:UMLMS]
xref: DOID:6567 {source="MONDO:equivalentTo"}
xref: NCIT:C40175 {source="DOID:6567", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:UMLMS {source="MONDO:equivalentTo"}
xref: UMLS:C1519861 {source="DOID:6567", source="MONDO:equivalentTo", source="NCIT:C40175"}
is_a: MONDO:0003359 {source="DOID:6567", source="MONDO:Redundant", source="MONDOLEX:0003928", source="NCIT:C40175"} ! myxoid leiomyosarcoma
is_a: MONDO:0016262 {source="DOID:6567", source="MONDO:Redundant", source="NCIT:C40175"} ! leiomyosarcoma of the corpus uteri
property_value: exactMatch DOID:6567
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519861
property_value: exactMatch NCIT:C40175

[Term]
id: MONDO:0003929
name: vestibular micropapillomatosis
def: "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." [NCIT:C40290]
synonym: "micropapillomatosis labialis" EXACT [NCIT:C40290]
synonym: "vestibular micropapillomatosis" EXACT [NCIT:C40290]
xref: DOID:6569 {source="MONDO:equivalentTo"}
xref: NCIT:C40290 {source="DOID:6569", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1519982 {source="NCIT:C40290", source="DOID:6569", source="MONDO:equivalentTo"}
is_a: MONDO:0002194 {source="DOID:6569", source="NCIT:C40290"} ! vestibular papilloma
property_value: exactMatch DOID:6569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519982
property_value: exactMatch NCIT:C40290

[Term]
id: MONDO:0003930
name: non-invasive bladder urothelial carcinoma
def: "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" [NCIT:P378]
synonym: "non-invasive bladder urothelial carcinoma" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial cancer" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v6" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v6 and v7" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v7" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of the bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of urinary bladder" EXACT [NCIT:C6188]
synonym: "stage 0 urinary bladder transitional cell carcinoma" EXACT [NCIT:C6188]
xref: DOID:6571 {source="MONDO:equivalentTo"}
xref: NCIT:C6188 {source="MONDO:equivalentTo"}
xref: UMLS:C1336089 {source="NCIT:C6188", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005611 {source="DOID:6571", source="MONDOLEX:0003930", source="NCIT:C6188"} ! bladder transitional cell carcinoma
property_value: exactMatch DOID:6571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336089
property_value: exactMatch NCIT:C6188

[Term]
id: MONDO:0003931
name: childhood optic tract astrocytoma
def: "An astrocytoma that arises from the visual pathway and occurs during childhood." [NCIT:P378]
synonym: "childhood optic tract astrocytoma" EXACT [NCIT:C7534]
synonym: "childhood visual pathway astrocytoma" EXACT [NCIT:C7534]
synonym: "optic tract astrocytoma of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric optic tract astrocytoma" EXACT [MONDO:patterns/childhood, NCIT:C7534]
synonym: "pediatric optic tract astrocytoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric visual pathway astrocytoma" EXACT [DOID:6575, NCIT:C7534]
xref: DOID:6575 {source="MONDO:equivalentTo"}
xref: NCIT:C7534 {source="DOID:6575", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.19"}
xref: UMLS:C1333014 {source="DOID:6575", source="MONDO:equivalentTo", source="NCIT:C7534"}
is_a: MONDO:0004071 ! childhood cerebral astrocytoma
is_a: MONDO:0024649 ! optic tract astrocytoma
relationship: excluded_subClassOf MONDO:0003234 {source="DOID:6575"} ! optic nerve astrocytoma
relationship: excluded_subClassOf MONDO:0003932 {source="NCIT:C7534"} ! childhood optic nerve glioma
property_value: exactMatch DOID:6575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333014
property_value: exactMatch NCIT:C7534

[Term]
id: MONDO:0003932
name: childhood optic nerve glioma
def: "A glioma affecting the optic tract and occurring in childhood." [NCIT:C7535]
synonym: "childhood optic tract glioma" EXACT [NCIT:C7535]
synonym: "childhood visual pathway glioma" EXACT [NCIT:C7535]
synonym: "glioma of childhood visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of pediatric visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of the childhood visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of the pediatric visual pathway" EXACT [DOID:6576, NCIT:C7535]
synonym: "optic nerve glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric optic nerve glioma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric optic nerve glioma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric optic tract glioma" EXACT [NCIT:C7535]
synonym: "pediatric visual pathway glioma" EXACT [NCIT:C7535]
synonym: "visual pathway and hypothalamic glioma, childhood" RELATED [GARD:0009309]
synonym: "visual pathway glioma" EXACT [NCIT:C7535]
xref: DOID:6576 {source="MONDO:equivalentTo"}
xref: GARD:0009309 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C7535 {source="DOID:6576", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003235 {source="DOID:6576", source="MONDO:Redundant"} ! optic nerve glioma
is_a: MONDO:0021079 ! childhood neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278653
property_value: exactMatch DOID:6576
property_value: exactMatch NCIT:C7535

[Term]
id: MONDO:0003933
name: chest wall bone cancer
def: "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor." [NCIT:P378]
synonym: "bone cancer of chest wall" EXACT [MONDO:design_pattern]
synonym: "chest wall bone cancer" EXACT [MONDO:patterns/location]
synonym: "malignant bone neoplasm of chest wall" RELATED [DOID:6579]
synonym: "malignant bone neoplasm of the chest wall" EXACT [NCIT:C6724]
synonym: "malignant bone tumor of chest wall" EXACT [NCIT:C6724]
synonym: "malignant bone tumor of the chest wall" EXACT [DOID:6579, NCIT:C6724]
synonym: "malignant chest wall bone neoplasm" EXACT [NCIT:C6724]
synonym: "malignant chest wall bone tumor" EXACT [NCIT:C6724]
xref: DOID:6579 {source="MONDO:equivalentTo"}
xref: NCIT:C6724 {source="DOID:6579", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334572 {source="DOID:6579", source="MONDO:equivalentTo", source="NCIT:C6724"}
is_a: MONDO:0002129 {source="DOID:6579", source="MONDO:Redundant", source="MONDOLEX:0003933", source="NCIT:C6724"} ! bone cancer
is_a: MONDO:0021323 {source="MONDO:Redundant", source="NCIT:C6724"} ! malignant neoplasm of chest wall
relationship: excluded_subClassOf MONDO:0003985 {source="DOID:6579"} ! chest wall lymphoma
property_value: exactMatch DOID:6579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334572
property_value: exactMatch NCIT:C6724

[Term]
id: MONDO:0003934
name: breast apocrine carcinoma
def: "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." [NCIT:C5141]
synonym: "apocrine adenocarcinoma of breast" EXACT [MONDO:design_pattern]
synonym: "apocrine breast carcinoma" EXACT [NCIT:C5141]
synonym: "apocrine carcinoma of breast" EXACT [DOID:6581, NCIT:C5141]
synonym: "apocrine carcinoma of the breast" EXACT [NCIT:C5141]
synonym: "breast apocrine adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "breast apocrine carcinoma" EXACT [DOID:6581, NCIT:C5141]
xref: DOID:6581 {source="MONDO:equivalentTo"}
xref: NCIT:C5141 {source="MONDO:equivalentTo", source="DOID:6581"}
xref: UMLS:C1332316 {source="NCIT:C5141", source="MONDO:equivalentTo", source="DOID:6581"}
is_a: MONDO:0003214 {source="DOID:6581", source="MONDO:Redundant", source="NCIT:C5141"} ! apocrine adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C5141"} ! breast ductal adenocarcinoma
property_value: exactMatch DOID:6581
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332316
property_value: exactMatch NCIT:C5141

[Term]
id: MONDO:0003935
name: oncocytic breast carcinoma
def: "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population." [NCIT:C40366]
synonym: "oncocytic breast carcinoma" EXACT [NCIT:C40366]
xref: DOID:6585 {source="MONDO:equivalentTo"}
xref: NCIT:C40366 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6585"}
xref: UMLS:C1518574 {source="MONDO:equivalentTo", source="NCIT:C40366", source="DOID:6585"}
is_a: MONDO:0004988 {source="DOID:6585", source="NCIT:C40366"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C40366"} ! invasive breast carcinoma
property_value: exactMatch DOID:6585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518574
property_value: exactMatch NCIT:C40366

[Term]
id: MONDO:0003936
name: invasive tubular breast carcinoma
def: "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium." [NCIT:C9135]
synonym: "breast tubular adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "infiltrating tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "infiltrating tubular carcinoma of breast" EXACT [NCIT:C9135]
synonym: "infiltrating tubular carcinoma of the breast" EXACT [NCIT:C9135]
synonym: "invasive tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "invasive tubular carcinoma of breast" EXACT [DOID:6587, NCIT:C9135]
synonym: "invasive tubular carcinoma of the breast" EXACT [NCIT:C9135]
synonym: "tubular breast cancer" EXACT [NCIT:C9135]
synonym: "tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "tubular carcinoma of breast" EXACT [DOID:6587, NCIT:C9135]
synonym: "tubular carcinoma of the breast" EXACT [NCIT:C9135]
xref: DOID:6587 {source="MONDO:equivalentTo"}
xref: NCIT:C9135 {source="DOID:6587", source="MONDO:equivalentTo"}
xref: UMLS:C1328544 {source="DOID:6587", source="NCIT:C9135", source="MONDO:equivalentTo"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
is_a: MONDO:0005606 {source="DOID:6587", source="MONDO:Redundant", source="MONDOLEX:0003936", source="NCIT:C9135"} ! tubular adenocarcinoma
property_value: exactMatch DOID:6587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328544
property_value: exactMatch NCIT:C9135

[Term]
id: MONDO:0003937
name: spondylitis
def: "The inflammation of a vertebra." [NCIT:C116779]
synonym: "inflammation of vertebra" EXACT []
synonym: "vertebra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:6590 {source="MONDO:equivalentTo"}
xref: ICD10:M46 {source="DOID:6590"}
xref: ICD9:720.8 {source="DOID:6590"}
xref: ICD9:720.89 {source="DOID:6590"}
xref: MESH:D013166 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116779 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:84172003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C116779", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0045002 ! vertebral disease
relationship: excluded_subClassOf MONDO:0005095 {source="DOID:6590"} ! spondyloarthropathy
property_value: closeMatch http://identifiers.org/snomedct/202651004
property_value: closeMatch http://identifiers.org/snomedct/202653001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029644
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038012
property_value: exactMatch DOID:6590
property_value: exactMatch http://identifiers.org/mesh/D013166
property_value: exactMatch http://identifiers.org/snomedct/84172003
property_value: exactMatch NCIT:C116779

[Term]
id: MONDO:0003938
name: bladder colonic type adenocarcinoma
synonym: "bladder colonic type adenocarcinoma" EXACT [NCIT:C39835]
synonym: "bladder enteric type adenocarcinoma" EXACT [NCIT:C39835]
xref: DOID:6594 {source="MONDO:equivalentTo"}
xref: NCIT:C39835 {source="MONDO:equivalentTo", source="DOID:6594", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1511188 {source="MONDO:equivalentTo", source="NCIT:C39835", source="DOID:6594"}
is_a: MONDO:0002751 {source="DOID:6594", source="NCIT:C39835"} ! bladder adenocarcinoma
property_value: exactMatch DOID:6594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511188
property_value: exactMatch NCIT:C39835

[Term]
id: MONDO:0003939
name: muscle tissue disease
def: "A disease involving the muscle tissue." [MONDO:DesignPattern]
synonym: "disease of muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of muscle tissue" EXACT []
synonym: "disorder of muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of muscle tissue" RELATED [MONDO:patterns/location_top]
synonym: "muscle tissue disease" EXACT [MONDO:patterns/location]
synonym: "muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:66 {source="MONDO:equivalentTo"}
is_a: MONDO:0005218 {source="DOID:66"} ! muscular disease
property_value: exactMatch DOID:66

[Term]
id: MONDO:0003940
name: Kummell disease
def: "Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury." [PMID:23814399]
synonym: "avascular necrosis of a vertebral body" EXACT [PMID:23814399]
synonym: "bony vertebral centrum osteonecrosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Kummell disease" EXACT [DOID:6603]
synonym: "Kummell's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Kummell's spondylitis" EXACT [DOID:6603]
synonym: "osteonecrosis of bony vertebral centrum" EXACT [MONDO:design_pattern]
synonym: "traumatic spondylopathy" EXACT [DOID:6603, ICD9CM_2006:721.7]
xref: COHD:81665 {source="MONDO:equivalentTo"}
xref: DOID:6603 {source="MONDO:equivalentTo"}
xref: ICD10:M48.3 {source="MONDO:equivalentTo", source="DOID:6603"}
xref: ICD9:721.7 {source="MONDO:equivalentTo", source="DOID:6603", source="i2s"}
xref: SCTID:111232005 {source="MONDO:equivalentTo", source="DOID:6603", source="MONDO:kboom-pr-0.91/0.82/0.10"}
xref: UMLS:C0152088 {source="MONDO:equivalentTo", source="DOID:6603"}
is_a: MONDO:0005095 {source="DOID:6603"} ! spondyloarthropathy
is_a: MONDO:0005380 ! osteonecrosis
is_a: MONDO:0045002 ! vertebral disease
property_value: closeMatch http://identifiers.org/snomedct/156628006
property_value: closeMatch http://identifiers.org/snomedct/202682000
property_value: closeMatch http://identifiers.org/snomedct/240218006
property_value: closeMatch http://identifiers.org/snomedct/268075001
property_value: closeMatch http://identifiers.org/snomedct/65753008
property_value: exactMatch DOID:6603
property_value: exactMatch http://identifiers.org/snomedct/111232005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152088

[Term]
id: MONDO:0003941
name: classic variant of chromophobe renal cell carcinoma
synonym: "classic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27888]
xref: DOID:6605 {source="MONDO:equivalentTo"}
xref: NCIT:C27888 {source="MONDO:equivalentTo", source="DOID:6605", source="exact-label-match"}
xref: UMLS:C1333062 {source="MONDO:equivalentTo", source="NCIT:C27888", source="DOID:6605"}
is_a: MONDO:0017885 {source="DOID:6605", source="MONDOLEX:0003941", source="NCIT:C27888"} ! chromophobe renal cell carcinoma
property_value: exactMatch DOID:6605
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333062
property_value: exactMatch NCIT:C27888

[Term]
id: MONDO:0003942
name: eosinophilic variant of chromophobe renal cell carcinoma
synonym: "eosinophilic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27889]
xref: DOID:6606 {source="MONDO:equivalentTo"}
xref: NCIT:C27889 {source="MONDO:equivalentTo", source="DOID:6606", source="exact-label-match"}
xref: UMLS:C1333405 {source="MONDO:equivalentTo", source="DOID:6606", source="NCIT:C27889"}
is_a: MONDO:0017885 {source="DOID:6606", source="MONDOLEX:0003942", source="NCIT:C27889"} ! chromophobe renal cell carcinoma
property_value: exactMatch DOID:6606
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333405
property_value: exactMatch NCIT:C27889

[Term]
id: MONDO:0003943
name: central nervous system hibernoma
def: "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system." [NCIT:C6997]
synonym: "central nervous system hibernoma" EXACT [MONDO:patterns/location, NCIT:C6997]
synonym: "hibernoma of central nervous system" EXACT [NCIT:C6997]
synonym: "hibernoma of nervous system" EXACT [DOID:6607]
synonym: "hibernoma of the central nervous system" EXACT [NCIT:C6997]
synonym: "nervous system hibernoma" RELATED [DOID:6607]
xref: DOID:6607 {source="MONDO:equivalentTo"}
xref: NCIT:C6997 {source="MONDO:equivalentTo"}
xref: UMLS:C1708362 {source="MONDO:equivalentTo", source="NCIT:C6997"}
is_a: MONDO:0003844 {source="MONDO:Redundant", source="NCIT:C6997"} ! central nervous system lipoma
is_a: MONDO:0021168 {source="MONDO:Redundant", source="MONDOLEX:0003943", source="NCIT:C6997", source="OWLReasoner:2017"} ! hibernoma
property_value: exactMatch DOID:6607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708362
property_value: exactMatch NCIT:C6997

[Term]
id: MONDO:0003944
name: endobronchial leiomyoma
def: "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5661]
synonym: "bronchus lung leiomyoma" EXACT [MONDO:patterns/location]
synonym: "endobronchial leiomyoma" EXACT [NCIT:C5661]
synonym: "lung leiomyoma of bronchus" EXACT [MONDO:design_pattern]
xref: DOID:6608 {source="MONDO:equivalentTo"}
xref: NCIT:C5661 {source="MONDO:equivalentTo", source="DOID:6608", source="exact-label-match"}
xref: UMLS:C1333386 {source="NCIT:C5661", source="MONDO:equivalentTo", source="DOID:6608"}
is_a: MONDO:0002807 ! bronchial neoplasm (disease)
is_a: MONDO:0003293 {source="DOID:6608", source="MONDO:Redundant", source="MONDOLEX:0003944", source="NCIT:C5661"} ! lung leiomyoma
property_value: exactMatch DOID:6608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333386
property_value: exactMatch NCIT:C5661

[Term]
id: MONDO:0003945
name: bone epithelioid hemangioma
def: "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells." [NCIT:C5396]
comment: Editor note: DO classifies this as benign
synonym: "bone epithelioid angioma" EXACT [NCIT:C5396]
synonym: "bone epithelioid hemangioma" EXACT [NCIT:C5396]
synonym: "bone hemangioma" EXACT [DOID:6610]
synonym: "epithelioid angioma of bone" EXACT [NCIT:C5396]
synonym: "epithelioid angioma of the bone" EXACT [NCIT:C5396]
synonym: "epithelioid hemangioma of bone" EXACT [NCIT:C5396]
synonym: "epithelioid hemangioma of the bone" EXACT [NCIT:C5396]
synonym: "hemangioma of bone" EXACT [DOID:6610]
synonym: "osseous epithelioid angioma" EXACT [NCIT:C5396]
synonym: "osseous epithelioid hemangioma" EXACT [DOID:6610, NCIT:C5396]
synonym: "osseous hemangioma" EXACT [DOID:6610, NCIT:C6477]
xref: DOID:6610 {source="MONDO:equivalentTo"}
xref: EFO:1000132 {source="MONDO:equivalentTo"}
xref: NCIT:C5396 {source="DOID:6610", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C1332575 {source="NCIT:C5396", source="DOID:6610", source="MONDO:equivalentTo"}
xref: UMLS:C1332578 {source="MEDGEN:kboom-pr98-c99", source="DOID:6610", source="MONDO:equivalentTo"}
is_a: MONDO:0021169 {source="MONDO:Redundant", source="MONDOLEX:0003945", source="NCIT:C5396"} ! epithelioid hemangioma
property_value: closeMatch NCIT:C6477
property_value: exactMatch DOID:6610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332578
property_value: exactMatch NCIT:C5396

[Term]
id: MONDO:0003946
name: vaginal villous adenoma
def: "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." [NCIT:C40259]
synonym: "vagina villous adenoma" EXACT [MONDO:patterns/location]
synonym: "vaginal villous adenoma" EXACT [NCIT:C40259]
xref: DOID:6613 {source="MONDO:equivalentTo"}
xref: NCIT:C40259 {source="DOID:6613", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519936 {source="NCIT:C40259", source="DOID:6613", source="MONDO:equivalentTo"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="MONDOLEX:0003946", source="NCIT:C40259"} ! villous adenoma
is_a: MONDO:0003434 {source="DOID:6613", source="MONDO:Redundant", source="NCIT:C40259"} ! vaginal adenoma
property_value: exactMatch DOID:6613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519936
property_value: exactMatch NCIT:C40259

[Term]
id: MONDO:0003947
name: hyper-IgM syndrome
def: "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." [https://en.wikipedia.org/wiki/Hyper_IgM_syndrome, MONDO:cjm]
comment: Editor note: consider merging two NCIT classes
synonym: "hyperimmunoglobulin M syndrome" RELATED [NCIT:C3990]
synonym: "immunodeficiency with hyper-IgM" EXACT [MONDO:0000047, NCIT:C84783]
xref: COHD:432287 {source="MONDO:equivalentTo"}
xref: DC:0000222 {source="MONDO:equivalentTo"}
xref: ICD9:279.05 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D053306 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: NCIT:C3990 {source="MONDO:equivalentTo"}
xref: OMIMPS:308230 {source="MONDO:equivalentTo", source="DC:0000222"}
xref: SCTID:82286005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272236 {source="NCIT:C3990", source="MONDO:equivalentTo"}
xref: Wikidata:Q1617658 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0002468 {source="MONDO:cjm", source="NCIT:C3990"} ! hyperimmunoglobulin syndrome
is_a: MONDO:0044980 ! disease of signal transduction
property_value: closeMatch NCIT:C84783
property_value: exactMatch http://identifiers.org/mesh/D053306
property_value: exactMatch http://identifiers.org/snomedct/82286005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272236
property_value: exactMatch NCIT:C3990

[Term]
id: MONDO:0003948
name: cerebral hemangioma
def: "A hemangioma arising from the cerebral hemisphere." [NCIT:C5433]
synonym: "angioma of cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "angioma of cerebrum" EXACT [NCIT:C5433]
synonym: "angioma of the cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "angioma of the cerebrum" EXACT [NCIT:C5433]
synonym: "cerebral angioma" EXACT [NCIT:C5433]
synonym: "cerebral hemangioma" EXACT [NCIT:C5433]
synonym: "cerebral hemispheric angioma" EXACT [NCIT:C5433]
synonym: "cerebral hemispheric hemangioma" EXACT [NCIT:C5433]
synonym: "hemangioma of cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "hemangioma of cerebrum" EXACT [DOID:6621, NCIT:C5433]
synonym: "hemangioma of telencephalon" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "hemangioma of the cerebrum" EXACT [NCIT:C5433]
synonym: "telencephalon hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:6621 {source="MONDO:equivalentTo"}
xref: NCIT:C5433 {source="DOID:6621", source="MONDO:equivalentTo"}
xref: UMLS:C0877388 {source="DOID:6621", source="MONDO:equivalentTo", source="NCIT:C5433"}
is_a: MONDO:0003428 {source="DOID:6621", source="NCIT:C5433"} ! brain hemangioma
is_a: MONDO:0021497 {source="MONDO:Redundant", source="NCIT:C5433"} ! benign neoplasm of cerebrum
property_value: exactMatch DOID:6621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877388
property_value: exactMatch NCIT:C5433

[Term]
id: MONDO:0003949
name: obsolete cervical adenoma malignum
is_obsolete: true
replaced_by: MONDO:0006140

[Term]
id: MONDO:0003950
name: nipple carcinoma
def: "A carcinoma that arises from epithelial cells of the nipple" [MONDO:DesignPattern]
synonym: "carcinoma of nipple" EXACT [MONDO:patterns/carcinoma]
synonym: "nipple cancer" EXACT [NCIT:C28432]
synonym: "nipple carcinoma" EXACT [MONDO:patterns/location, NCIT:C28432]
xref: DOID:6629 {source="MONDO:equivalentTo"}
xref: NCIT:C28432 {source="MONDO:equivalentTo", source="DOID:6629", source="exact-label-match"}
xref: UMLS:C1334966 {source="NCIT:C28432", source="MONDO:equivalentTo", source="DOID:6629"}
is_a: MONDO:0002482 {source="MONDO:Redundant", source="NCIT:C28432/inferred"} ! nipple neoplasm
is_a: MONDO:0004989 {source="DOID:6629", source="MONDO:Redundant", source="NCIT:C28432"} ! breast carcinoma
property_value: exactMatch DOID:6629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334966
property_value: exactMatch NCIT:C28432

[Term]
id: MONDO:0003951
name: scrotal hemangioma
def: "A hemangioma arising from the skin of the scrotum." [NCIT:C6387]
synonym: "angioma of scrotum" EXACT [NCIT:C6387]
synonym: "angioma of the scrotum" EXACT [NCIT:C6387]
synonym: "hemangioma of scrotum" EXACT [DOID:663, NCIT:C6387]
synonym: "hemangioma of the scrotum" EXACT [NCIT:C6387]
synonym: "scrotal angioma" EXACT [NCIT:C6387]
synonym: "scrotal hemangioma" EXACT [NCIT:C6387]
synonym: "scrotum hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:663 {source="MONDO:equivalentTo"}
xref: NCIT:C6387 {source="MONDO:equivalentTo", source="DOID:663"}
xref: UMLS:C1335936 {source="NCIT:C6387", source="MONDO:equivalentTo", source="DOID:663"}
is_a: MONDO:0003110 {source="DOID:663", source="NCIT:C6387"} ! skin hemangioma
is_a: MONDO:0021472 {source="MONDO:Redundant", source="NCIT:C6387"} ! benign neoplasm of scrotum
property_value: exactMatch DOID:663
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335936
property_value: exactMatch NCIT:C6387

[Term]
id: MONDO:0003952
name: adult central nervous system choriocarcinoma
def: "A choriocarcinoma of the central nervous system that occurs in an adult." [MONDO:design_pattern]
synonym: "adult central nervous system choriocarcinoma" EXACT [NCIT:C5793]
synonym: "adult choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "adult CNS choriocarcinoma" EXACT [NCIT:C5793]
synonym: "Central nervous system choriocarcinoma" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of adult central nervous system" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of adult CNS" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of the adult central nervous system" EXACT [DOID:6634, NCIT:C5793]
synonym: "choriocarcinoma of the adult CNS" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of the central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6634 {source="MONDO:equivalentTo"}
xref: NCIT:C5793 {source="DOID:6634", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370505 {source="DOID:6634", source="NCIT:C5793", source="MONDO:equivalentTo"}
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5793"} ! adult central nervous system germ cell tumor
is_a: MONDO:0016740 {source="MONDO:Redundant", source="MONDOLEX:0003952", source="NCIT:C5793"} ! choriocarcinoma of the central nervous system
property_value: exactMatch DOID:6634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370505
property_value: exactMatch NCIT:C5793

[Term]
id: MONDO:0003953
name: pediatric CNS choriocarcinoma
def: "A choriocarcinoma that arises from the central nervous system and occurs during childhood." [NCIT:P378]
synonym: "Central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "childhood central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "childhood choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "childhood CNS choriocarcinoma" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of childhood central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of childhood CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of pediatric central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of pediatric CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "choriocarcinoma of the childhood central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the childhood CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the pediatric central nervous system" EXACT [DOID:6639, NCIT:C6206]
synonym: "choriocarcinoma of the pediatric CNS" EXACT [NCIT:C6206]
synonym: "pediatric central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "pediatric choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choriocarcinoma of the central nervous system" RELATED [MONDO:patterns/childhood]
xref: DOID:6639 {source="MONDO:equivalentTo"}
xref: NCIT:C6206 {source="MONDO:equivalentTo", source="DOID:6639", source="MONDO:kboom-pr-1.00/0.83/9.04"}
xref: UMLS:C1377604 {source="MONDO:equivalentTo", source="DOID:6639", source="NCIT:C6206"}
is_a: MONDO:0003750 {source="DOID:6639", source="MONDO:Redundant", source="NCIT:C6206"} ! childhood central nervous system germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0016740 ! choriocarcinoma of the central nervous system
property_value: exactMatch DOID:6639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377604
property_value: exactMatch NCIT:C6206

[Term]
id: MONDO:0003954
name: angiokeratoma of Fordyce
def: "An angiokeratoma that is located on the scrotum or vulva." [http://www.patientcareonline.com/skin-diseases/fordyce-angiokeratoma]
synonym: "Fordyce angiokeratoma" EXACT [DOID:664]
synonym: "Fordyce's spot" EXACT [DOID:664]
synonym: "Fordyce-type angiokeratoma of scrotum" NARROW [DOID:664]
xref: DOID:664 {source="MONDO:equivalentTo"}
xref: SCTID:6331000 {source="MONDO:equivalentTo", source="DOID:664", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0263639 {source="NCIT:C7752", source="MONDO:equivalentTo", source="DOID:664"}
is_a: MONDO:0003143 ! angiokeratoma
property_value: closeMatch http://identifiers.org/snomedct/238747004
property_value: closeMatch http://identifiers.org/snomedct/254789007
property_value: exactMatch DOID:664
property_value: exactMatch http://identifiers.org/snomedct/6331000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263639

[Term]
id: MONDO:0003955
name: juvenile breast papillomatosis
def: "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." [NCIT:C9503]
synonym: "breast juvenile papillomatosis" RELATED [DOID:6641]
synonym: "juvenile breast papillomatosis" EXACT [NCIT:C9503]
synonym: "juvenile papillomatosis of breast" EXACT [NCIT:C9503]
synonym: "juvenile papillomatosis of the breast" EXACT [DOID:6641, NCIT:C9503]
synonym: "Swiss cheese disease" EXACT [NCIT:C9503]
xref: DOID:6641 {source="MONDO:equivalentTo"}
xref: NCIT:C9503 {source="DOID:6641", source="MONDO:equivalentTo"}
xref: SCTID:708518001 {source="DOID:6641", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334303 {source="DOID:6641", source="MONDO:equivalentTo", source="NCIT:C9503"}
is_a: MONDO:0002063 {source="DOID:6641", source="MONDOLEX:0003955", source="NCIT:C9503"} ! breast papillomatosis
property_value: exactMatch DOID:6641
property_value: exactMatch http://identifiers.org/snomedct/708518001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334303
property_value: exactMatch NCIT:C9503

[Term]
id: MONDO:0003956
name: Baastrup syndrome
synonym: "Baastrup syndrome" EXACT [DOID:6643]
synonym: "Baastrup's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "kissing spine" EXACT [DOID:6643, ICD9CM_2006:721.5]
xref: COHD:75908 {source="MONDO:equivalentTo"}
xref: DOID:6643 {source="MONDO:equivalentTo"}
xref: ICD10:M48.2 {source="DOID:6643"}
xref: ICD10:M48.20 {source="DOID:6643"}
xref: ICD9:721.5 {source="DOID:6643", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:82304009 {source="DOID:6643", source="MONDO:kboom-pr-1.00/0.78/7.10", source="MONDO:equivalentTo"}
xref: UMLS:C0158248 {source="DOID:6643", source="MONDO:equivalentTo"}
is_a: MONDO:0000812 {source="linkedlifedata"} ! vertebral column disease
is_a: MONDO:0005381 {source="DOID:6643/inferred", source="linkedlifedata"} ! bone disease
relationship: excluded_subClassOf MONDO:0005095 {source="DOID:6643"} ! spondyloarthropathy
property_value: closeMatch http://identifiers.org/snomedct/202681007
property_value: exactMatch DOID:6643
property_value: exactMatch http://identifiers.org/snomedct/82304009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158248

[Term]
id: MONDO:0003957
name: adult pineoblastoma
def: "A pineoblastoma occurring in adults." [NCIT:C8292]
synonym: "adult pineoblastoma" EXACT [NCIT:C8292]
synonym: "pineoblastoma" EXACT [NCIT:C8292]
synonym: "pineoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6648 {source="MONDO:equivalentTo"}
xref: NCIT:C8292 {source="DOID:6648", source="MONDO:equivalentTo"}
xref: UMLS:C0281332 {source="DOID:6648", source="MONDO:equivalentTo", source="NCIT:C8292"}
is_a: MONDO:0003248 {source="DOID:6648", source="NCIT:C8292"} ! adult pineal parenchymal tumor
is_a: MONDO:0016722 {source="MONDO:Redundant", source="NCIT:C8292"} ! pineoblastoma
property_value: exactMatch DOID:6648
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281332
property_value: exactMatch NCIT:C8292

[Term]
id: MONDO:0003958
name: childhood central nervous system immature teratoma
def: "An immature teratoma that arises from the central nervous system and occurs during childhood." [NCIT:C27405]
synonym: "central nervous system immature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system immature teratoma" EXACT [NCIT:C27405]
synonym: "pediatric central nervous system immature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric central nervous system immature teratoma" RELATED [MONDO:patterns/childhood]
xref: DOID:6654 {source="MONDO:equivalentTo"}
xref: NCIT:C27405 {source="DOID:6654", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332954 {source="DOID:6654", source="MONDO:equivalentTo", source="NCIT:C27405"}
is_a: MONDO:0003735 {source="DOID:6654", source="MONDO:Redundant", source="MONDOLEX:0003958", source="NCIT:C27405"} ! central nervous system immature teratoma
is_a: MONDO:0003750 ! childhood central nervous system germ cell tumor
property_value: exactMatch DOID:6654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332954
property_value: exactMatch NCIT:C27405

[Term]
id: MONDO:0003959
name: breast large cell neuroendocrine carcinoma
def: "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." [NCIT:C40356]
synonym: "breast large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C40356]
synonym: "large cell neuroendocrine carcinoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:6657 {source="MONDO:equivalentTo"}
xref: NCIT:C40356 {source="DOID:6657", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1511316 {source="DOID:6657", source="MONDO:equivalentTo", source="NCIT:C40356"}
is_a: MONDO:0002485 {source="MONDO:Redundant", source="NCIT:C40356"} ! breast neuroendocrine neoplasm
is_a: MONDO:0005057 {source="DOID:6657", source="MONDO:Redundant", source="MONDOLEX:0003959", source="NCIT:C40356"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0006256 {source="NCIT:C40356"} ! invasive breast carcinoma
property_value: exactMatch DOID:6657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511316
property_value: exactMatch NCIT:C40356

[Term]
id: MONDO:0003960
name: pulmonary large cell neuroendocrine carcinoma
def: "A large cell neuroendocrine carcinoma that involves the lung(s)." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/location]
synonym: "large cell lung carcinoma with neuroendocrine differentiation" EXACT [NCIT:C5672]
synonym: "large cell lung neuroendocrine carcinoma" EXACT [NCIT:C5672]
synonym: "large cell neuroendocrine carcinoma of lung" EXACT [NCIT:C5672]
synonym: "large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C5672]
synonym: "LCNEC of the lung" EXACT [NCIT:C5672]
synonym: "lung large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "pulmonary large cell neuroendocrine carcinoma" EXACT [NCIT:C5672]
xref: DOID:6658 {source="MONDO:equivalentTo"}
xref: NCIT:C5672 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:6658", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334363 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5672", source="MONDO:equivalentTo", source="DOID:6658"}
is_a: MONDO:0003050 {source="DOID:6658", source="MONDO:Redundant", source="MONDOLEX:0003960", source="NCIT:C5672"} ! lung large cell carcinoma
is_a: MONDO:0005057 {source="MONDO:Redundant", source="MONDOLEX:0003960", source="NCIT:C5672"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C5672/inferred"} ! lung neuroendocrine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128628002
property_value: exactMatch DOID:6658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334363
property_value: exactMatch NCIT:C5672

[Term]
id: MONDO:0003961
name: obsolete cervical large cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0006138

[Term]
id: MONDO:0003962
name: Froelich syndrome
def: "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." [https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome]
subset: gard_rare {source="GARD:0006463"}
synonym: "Adiposodysgenesis" RELATED [GARD:0006463]
synonym: "adiposogenital dystrophy" RELATED [GARD:0006463]
synonym: "adiposogenital syndrome" EXACT [DOID:6676]
synonym: "Babinski-Froelich syndrome" EXACT [DOID:6676]
synonym: "dystrophia Adiposogenitalis" EXACT [NCIT:C34625]
synonym: "Froehlich syndrome" EXACT [DOID:6676]
synonym: "Froehlich's syndrome" EXACT [DOID:6676]
synonym: "Froelich's adiposity" RELATED [GARD:0006463]
synonym: "Froelich's syndrome" EXACT [DOID:6676]
synonym: "Frohlich syndrome" EXACT [NCIT:C34625]
synonym: "Frohlich's syndrome" EXACT [NCIT:C34625]
synonym: "Frolich's syndrome" EXACT [NCIT:C34625]
synonym: "Fröhlich syndrome" EXACT [NCIT:C34625]
synonym: "hypothalamic infantilism-obesity" EXACT [NCIT:C34625]
synonym: "Launois-Cleret syndrome" EXACT [NCIT:C34625]
synonym: "sexual infantilism" EXACT [NCIT:C34625]
xref: DOID:6676 {source="MONDO:equivalentTo"}
xref: GARD:0006463 {source="MONDO:equivalentTo"}
xref: ICD10:E23.6 {source="DOID:6676"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34625 {source="DOID:6676", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: SCTID:62999006 {source="DOID:6676", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.45"}
is_a: MONDO:0002150 {source="DOID:6676", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypothalamic disease
is_a: MONDO:0002254 {source="MONDOLEX:0003962", source="NCIT:C34625"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016724
property_value: exactMatch DOID:6676
property_value: exactMatch http://identifiers.org/snomedct/62999006
property_value: exactMatch NCIT:C34625
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome xsd:anyURI {source="GARD:0006463"}

[Term]
id: MONDO:0003963
name: diffuse infiltrative lymphocytosis syndrome
def: "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." [NCIT:P378]
synonym: "diffuse infiltra. lymph. sydrome" EXACT [NCIT:C35699]
synonym: "diffuse infiltra. lymph. syndrome" EXACT [NCIT:C35699]
xref: DOID:6677 {source="MONDO:equivalentTo"}
xref: NCIT:C35699 {source="DOID:6677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:449784008 {source="DOID:6677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1333292 {source="DOID:6677", source="MONDO:equivalentTo", source="NCIT:C35699"}
is_a: MONDO:0002254 {source="DOID:6677", source="MONDOLEX:0003963", source="NCIT:C35699"} ! syndromic disease
property_value: exactMatch DOID:6677
property_value: exactMatch http://identifiers.org/snomedct/449784008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333292
property_value: exactMatch NCIT:C35699

[Term]
id: MONDO:0003964
name: myositis ossificans
def: "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues." [NCIT:P378]
synonym: "fibrodysplasia ossificans progressiva" EXACT [MESH:D009221]
synonym: "fop" EXACT [MESH:D009221]
synonym: "Myisitis ossificans" EXACT [DOID:668, MTHICD9_2006:728.12]
synonym: "myositis ossificans progressiva" EXACT [MESH:D009221]
synonym: "ossification - muscle" EXACT [DOID:668]
synonym: "progressive myositis ossificans" EXACT [MESH:D009221]
synonym: "progressive ossifying myositis" EXACT [MESH:D009221]
xref: DOID:668 {source="MONDO:equivalentTo"}
xref: MESH:D009221 {source="DOID:668", source="MONDO:equivalentTo"}
xref: NCIT:C3253 {source="DOID:668", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C0027122 {source="DOID:668", source="NCIT:C3253", source="MONDO:equivalentTo"}
is_a: MONDO:0021167 {source="DOID:668", source="MESH:D009221", source="MONDOLEX:0003964", source="NCIT:C3253"} ! myositis
property_value: closeMatch http://identifiers.org/snomedct/156720008
property_value: closeMatch http://identifiers.org/snomedct/203030008
property_value: closeMatch http://identifiers.org/snomedct/44551007
property_value: exactMatch DOID:668
property_value: exactMatch http://identifiers.org/mesh/D009221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027122
property_value: exactMatch NCIT:C3253

[Term]
id: MONDO:0003965
name: Capgras syndrome
def: "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." [NCIT:P378]
synonym: "Capgras delusion theory" EXACT [DOID:6680]
xref: DOID:6680 {source="MONDO:equivalentTo"}
xref: MESH:D002194 {source="MONDO:equivalentTo", source="DOID:6680", source="MONDO:ontobio"}
xref: NCIT:C34446 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:6680"}
is_a: MONDO:0002254 {source="MONDOLEX:0003965", source="NCIT:C34446"} ! syndromic disease
is_a: MONDO:0004359 {source="DOID:6680"} ! delusional disorder
property_value: closeMatch http://identifiers.org/snomedct/44906001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006895
property_value: exactMatch DOID:6680
property_value: exactMatch http://identifiers.org/mesh/D002194
property_value: exactMatch NCIT:C34446

[Term]
id: MONDO:0003966
name: testicular monophasic choriocarcinoma
def: "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent." [NCIT:P378]
xref: DOID:6693 {source="MONDO:equivalentTo"}
xref: NCIT:C39935 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6693"}
xref: UMLS:C1515290 {source="MONDO:equivalentTo", source="NCIT:C39935", source="DOID:6693"}
is_a: MONDO:0003508 {source="DOID:6693", source="NCIT:C39935"} ! choriocarcinoma of testis
property_value: exactMatch DOID:6693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515290
property_value: exactMatch NCIT:C39935

[Term]
id: MONDO:0003967
name: synchronous multifocal osteogenic sarcoma
def: "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis." [NCIT:P378]
synonym: "synchronous multifocal osteosarcoma" EXACT [NCIT:C6471]
xref: DOID:6696 {source="MONDO:equivalentTo"}
xref: NCIT:C6471 {source="DOID:6696", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336544 {source="DOID:6696", source="NCIT:C6471", source="MONDO:equivalentTo"}
is_a: MONDO:0002622 {source="DOID:6696", source="MONDOLEX:0003967", source="NCIT:C6471"} ! multifocal osteogenic sarcoma
property_value: exactMatch DOID:6696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336544
property_value: exactMatch NCIT:C6471

[Term]
id: MONDO:0003968
name: asynchronous multifocal osteogenic sarcoma
def: "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." [NCIT:P378]
synonym: "asynchronous multifocal osteosarcoma" EXACT [NCIT:C6472]
xref: DOID:6697 {source="MONDO:equivalentTo"}
xref: NCIT:C6472 {source="DOID:6697", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1332342 {source="DOID:6697", source="NCIT:C6472", source="MONDO:equivalentTo"}
is_a: MONDO:0002622 {source="DOID:6697", source="MONDOLEX:0003968", source="NCIT:C6472"} ! multifocal osteogenic sarcoma
property_value: exactMatch DOID:6697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332342
property_value: exactMatch NCIT:C6472

[Term]
id: MONDO:0003969
name: amphetamine abuse
def: "Disorders related or resulting from use of amphetamines." [MESH:D019969]
xref: COHD:432878 {source="MONDO:equivalentTo"}
xref: DOID:670 {source="MONDO:equivalentTo"}
xref: ICD9:305.7 {source="DOID:670"}
xref: ICD9:305.70 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019969 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:84758004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:670", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154536
property_value: exactMatch DOID:670
property_value: exactMatch http://identifiers.org/mesh/D019969
property_value: exactMatch http://identifiers.org/snomedct/84758004

[Term]
id: MONDO:0003970
name: gastric fundus carcinoma
def: "A carcinoma that arises from epithelial cells of the fundus of stomach." [MONDO:DesignPattern]
comment: Editor note: consider merge with gastric fundus cancer
synonym: "cancer of fundus of stomach" BROAD [DOID:6700, NCIT:C8398]
synonym: "cancer of gastric fundus" BROAD [NCIT:C8398]
synonym: "cancer of the fundus of the stomach" BROAD [NCIT:C8398]
synonym: "cancer of the gastric fundus" BROAD [NCIT:C8398]
synonym: "carcinoma of fundus of stomach" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of gastric fundus" EXACT [NCIT:C8398]
synonym: "carcinoma of the fundus of the stomach" EXACT [NCIT:C8398]
synonym: "carcinoma of the gastric fundus" EXACT [NCIT:C8398]
synonym: "fundus of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric fundus (stomach) cancer" BROAD [NCIT:C8398]
synonym: "Gastric fundus cancer" EXACT [NCIT:C8398]
xref: DOID:6700 {source="MONDO:equivalentTo"}
xref: NCIT:C8398 {source="DOID:6700", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.80/0.32"}
xref: SCTID:254555008 {source="DOID:6700", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345799 {source="NCIT:C8398", source="DOID:6700", source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="DOID:6700", source="MONDO:Redundant", source="MONDOLEX:0003970", source="NCIT:C8398", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastric carcinoma
property_value: exactMatch DOID:6700
property_value: exactMatch http://identifiers.org/snomedct/254555008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345799
property_value: exactMatch NCIT:C8398

[Term]
id: MONDO:0003971
name: gastric pylorus carcinoma
def: "A carcinoma that arises from the pylorus." [NCIT:C6795]
synonym: "cancer of gastric pylorus" EXACT [NCIT:C6795]
synonym: "cancer of pylorus of stomach" EXACT [NCIT:C6795]
synonym: "cancer of the gastric pylorus" EXACT [NCIT:C6795]
synonym: "cancer of the pylorus of the stomach" EXACT [NCIT:C6795]
synonym: "carcinoma of gastric pylorus" EXACT [NCIT:C6795]
synonym: "carcinoma of pylorus of stomach" EXACT [DOID:6703, NCIT:C6795]
synonym: "carcinoma of the gastric pylorus" EXACT [NCIT:C6795]
synonym: "carcinoma of the pylorus of the stomach" EXACT [NCIT:C6795]
synonym: "gastric pylorus (stomach) cancer" EXACT [NCIT:C6795]
synonym: "gastric pylorus cancer" EXACT [NCIT:C6795]
synonym: "gastric pylorus carcinoma" EXACT [NCIT:C6795]
xref: DOID:6703 {source="MONDO:equivalentTo"}
xref: NCIT:C6795 {source="DOID:6703", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333787 {source="DOID:6703", source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="DOID:6703", source="NCIT:C6795"} ! gastric carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345814
property_value: exactMatch DOID:6703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333787
property_value: exactMatch NCIT:C6795

[Term]
id: MONDO:0003972
name: gastric body carcinoma
def: "A carcinoma that arises from epithelial cells of the body of stomach." [MONDO:DesignPattern]
synonym: "body of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "cancer of body of stomach" EXACT [DOID:6705, NCIT:C8399]
synonym: "cancer of gastric body" EXACT [NCIT:C8399]
synonym: "cancer of the body of the stomach" EXACT [NCIT:C8399]
synonym: "cancer of the gastric body" EXACT [NCIT:C8399]
synonym: "carcinoma of body of stomach" EXACT [MONDO:patterns/carcinoma, NCIT:C8399]
synonym: "carcinoma of gastric body" EXACT [NCIT:C8399]
synonym: "carcinoma of the body of the stomach" EXACT [NCIT:C8399]
synonym: "carcinoma of the gastric body" EXACT [NCIT:C8399]
synonym: "gastric body (stomach) cancer" EXACT [NCIT:C8399]
synonym: "gastric body cancer" EXACT [NCIT:C8399]
synonym: "gastric body carcinoma" EXACT [NCIT:C8399]
xref: DOID:6705 {source="MONDO:equivalentTo"}
xref: NCIT:C8399 {source="MONDO:equivalentTo", source="DOID:6705", source="exact-label-match"}
xref: SCTID:254557000 {source="MONDO:equivalentTo", source="DOID:6705", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345804 {source="NCIT:C8399", source="MONDO:equivalentTo", source="DOID:6705"}
is_a: MONDO:0004950 {source="DOID:6705", source="MONDO:Redundant", source="MONDOLEX:0003972", source="NCIT:C8399"} ! gastric carcinoma
property_value: exactMatch DOID:6705
property_value: exactMatch http://identifiers.org/snomedct/254557000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345804
property_value: exactMatch NCIT:C8399

[Term]
id: MONDO:0003973
name: tubular variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes." [NCIT:P378]
synonym: "testicular seminoma, tubular variant" EXACT [NCIT:C40959]
xref: DOID:6706 {source="MONDO:equivalentTo"}
xref: NCIT:C40959 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:6706"}
xref: UMLS:C1515294 {source="MONDO:equivalentTo", source="NCIT:C40959", source="DOID:6706"}
is_a: MONDO:0003669 {source="DOID:6706", source="MONDOLEX:0003973", source="NCIT:C40959"} ! testicular seminoma
property_value: exactMatch DOID:6706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515294
property_value: exactMatch NCIT:C40959

[Term]
id: MONDO:0003974
name: obsolete malignant triton tumor
is_obsolete: true
replaced_by: MONDO:0016757

[Term]
id: MONDO:0003975
name: Littre gland carcinoma
def: "A carcinoma involving a male urethral gland." [MONDO:patterns/carcinoma]
synonym: "carcinoma of LittrC) glands" EXACT [NCIT:C39865]
synonym: "carcinoma of Littre glands" EXACT [NCIT:C39865]
synonym: "carcinoma of Littré glands" EXACT [NCIT:C39865]
synonym: "carcinoma of male urethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "male urethral gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6721 {source="MONDO:equivalentTo"}
xref: NCIT:C39865 {source="DOID:6721", source="MONDO:equivalentTo"}
xref: UMLS:C1516285 {source="DOID:6721", source="MONDO:equivalentTo", source="NCIT:C39865"}
is_a: MONDO:0004197 {source="MONDO:Redundant", source="NCIT:C39865"} ! male urethral cancer
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C39865/inferred"} ! carcinoma of urethra
relationship: excluded_subClassOf MONDO:0005836 {source="DOID:6721"} ! male reproductive organ cancer
property_value: exactMatch DOID:6721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516285
property_value: exactMatch NCIT:C39865

[Term]
id: MONDO:0003976
name: malignant type AB thymoma
def: "A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." [NCIT:C6886]
synonym: "malignant thymoma type AB" EXACT []
synonym: "malignant type AB thymoma" EXACT [NCIT:C6886]
synonym: "thymoma type AB, malignant" EXACT [MONDO:patterns/malignant]
synonym: "thymoma, mixed type, malignant" EXACT [DOID:6723]
xref: DOID:6723 {source="MONDO:equivalentTo"}
xref: ICDO:8582/3 {source="NCIT:C6886"}
xref: NCIT:C6886 {source="DOID:6723", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266093 {source="DOID:6723", source="MONDO:equivalentTo", source="NCIT:C6886"}
is_a: MONDO:0006451 ! thymic carcinoma
is_a: MONDO:0016975 {source="DOID:6723", source="MONDO:Redundant", source="MONDOLEX:0003976", source="NCIT:C6886"} ! thymoma type AB
property_value: closeMatch http://identifiers.org/snomedct/128710005
property_value: exactMatch DOID:6723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266093
property_value: exactMatch NCIT:C6886

[Term]
id: MONDO:0003977
name: obsolete fibrillary astrocytoma
is_obsolete: true
replaced_by: MONDO:0016688

[Term]
id: MONDO:0003978
name: colon small cell neuroendocrine carcinoma
def: "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." [NCIT:C6761]
synonym: "colon Oat cell carcinoma" EXACT [NCIT:C6761]
synonym: "colon small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6761]
synonym: "colon small cell neuroendocrine cancer" EXACT [NCIT:C6761]
synonym: "colon small cell neuroendocrine carcinoma" EXACT [NCIT:C6761]
synonym: "colonic Oat cell carcinoma" EXACT [NCIT:C6761]
synonym: "colonic small cell carcinoma" EXACT [DOID:6727, NCIT:C6761]
synonym: "Oat cell carcinoma of colon" EXACT [NCIT:C6761]
synonym: "Oat cell carcinoma of the colon" EXACT [NCIT:C6761]
synonym: "Oat cell colon carcinoma" EXACT [NCIT:C6761]
synonym: "small cell carcinoma of colon" EXACT [NCIT:C6761]
synonym: "small cell carcinoma of the colon" EXACT [NCIT:C6761]
synonym: "small cell colon carcinoma" EXACT [NCIT:C6761]
xref: DOID:6727 {source="MONDO:equivalentTo"}
xref: NCIT:C6761 {source="MONDO:equivalentTo", source="DOID:6727"}
xref: UMLS:C1333099 {source="NCIT:C6761", source="MONDO:equivalentTo", source="DOID:6727"}
is_a: MONDO:0000402 {source="DOID:6727", source="MONDO:Redundant", source="MONDOLEX:0003978", source="NCIT:C6761/inferred"} ! small cell carcinoma
is_a: MONDO:0002032 {source="DOID:6727", source="MONDO:Redundant", source="MONDOLEX:0003978", source="NCIT:C6761"} ! colon carcinoma
is_a: MONDO:0002882 {source="MONDO:Redundant", source="NCIT:C6761"} ! colon neuroendocrine neoplasm
property_value: exactMatch DOID:6727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333099
property_value: exactMatch NCIT:C6761

[Term]
id: MONDO:0003979
name: intrahepatic bile duct cystadenoma
def: "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts." [NCIT:P378]
synonym: "cystadenoma of the intrahepatic bile duct" EXACT [DOID:6733, NCIT:C7127]
synonym: "intrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C96835]
synonym: "intrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C96835]
xref: DOID:6733 {source="MONDO:equivalentTo"}
xref: NCIT:C96835 {source="MONDO:kboom-pr-0.96/0.91/0.53", source="DOID:6733", source="MONDO:equivalentTo"}
xref: UMLS:C1334257 {source="NCIT:C96835", source="DOID:6733", source="MONDO:equivalentTo"}
is_a: MONDO:0003420 {source="DOID:6733", source="MONDO:Redundant", source="MONDOLEX:0003979", source="NCIT:C96835"} ! bile duct cystadenoma
is_a: MONDO:0003444 {source="DOID:6733", source="MONDO:Redundant", source="MONDOLEX:0003979"} ! intrahepatic bile duct adenoma
property_value: exactMatch DOID:6733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334257
property_value: exactMatch NCIT:C96835

[Term]
id: MONDO:0003980
name: schwannoma of jugular foramen
def: "A rare intracranial schwannoma that affects the jugular foramen." [NCIT:P378]
synonym: "jugular Foramen neurilemmoma" EXACT [NCIT:C5323]
synonym: "jugular foramen schwannoma" EXACT [MONDO:patterns/location]
synonym: "neurilemmoma of jugular Foramen" EXACT [DOID:6735, NCIT:C5323]
synonym: "neurilemmoma of the jugular Foramen" EXACT [NCIT:C5323]
synonym: "schwannoma of the jugular Foramen" EXACT [NCIT:C5323]
xref: DOID:6735 {source="MONDO:equivalentTo"}
xref: NCIT:C5323 {source="MONDO:equivalentTo", source="DOID:6735", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334300 {source="MONDO:equivalentTo", source="NCIT:C5323", source="DOID:6735"}
is_a: MONDO:0004820 {source="DOID:6735", source="NCIT:C5323"} ! peripheral nerve schwannoma
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:6735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334300
property_value: exactMatch NCIT:C5323

[Term]
id: MONDO:0003981
name: obsolete cervix small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006142

[Term]
id: MONDO:0003982
name: bilateral breast carcinoma
def: "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." [NCIT:P378]
synonym: "bilateral breast cancer" BROAD [DOID:6741, NCIT:C8287]
synonym: "bilateral breast cancer" EXACT [NCIT:C8287]
synonym: "bilateral breast carcinoma" EXACT [NCIT:C8287]
xref: DOID:6741 {source="MONDO:equivalentTo"}
xref: NCIT:C8287 {source="DOID:6741", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0281267 {source="DOID:6741", source="NCIT:C8287", source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="DOID:6741", source="MONDOLEX:0003982", source="NCIT:C8287"} ! breast carcinoma
property_value: exactMatch DOID:6741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281267
property_value: exactMatch NCIT:C8287

[Term]
id: MONDO:0003983
name: synchronous bilateral breast carcinoma
def: "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast." [NCIT:P378]
xref: DOID:6742 {source="MONDO:equivalentTo"}
xref: NCIT:C40370 {source="DOID:6742", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1515107 {source="DOID:6742", source="MONDO:equivalentTo", source="NCIT:C40370"}
is_a: MONDO:0003982 {source="DOID:6742", source="MONDOLEX:0003983", source="NCIT:C40370"} ! bilateral breast carcinoma
property_value: exactMatch DOID:6742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515107
property_value: exactMatch NCIT:C40370

[Term]
id: MONDO:0003984
name: internal auditory canal lipoma
def: "A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures." [NCIT:P378]
synonym: "inner Ear lipoma" EXACT [NCIT:C5452]
synonym: "internal acoustic meatus lipoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "internal Ear lipoma" EXACT [NCIT:C5452]
synonym: "lipoma of internal acoustic meatus" EXACT [MONDO:design_pattern]
synonym: "lipoma of internal auditory canal" EXACT [NCIT:C5452]
synonym: "lipoma of the internal auditory canal" EXACT [DOID:6752, NCIT:C5452]
xref: DOID:6752 {source="MONDO:equivalentTo"}
xref: NCIT:C5452 {source="DOID:6752", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C1334226 {source="DOID:6752", source="NCIT:C5452", source="MONDO:equivalentTo"}
is_a: MONDO:0005106 ! lipoma
is_a: MONDO:0021474 ! benign neoplasm of ear
is_a: MONDO:0024320 {source="MONDO:Redundant", source="NCIT:C5452"} ! inner ear neoplasm
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:6752"} ! auditory system cancer
property_value: exactMatch DOID:6752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334226
property_value: exactMatch NCIT:C5452

[Term]
id: MONDO:0003985
name: chest wall lymphoma
def: "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas." [NCIT:C6712]
synonym: "chest wall cancer" EXACT [DOID:6758]
synonym: "chest wall lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of chest wall" EXACT [DOID:6758]
synonym: "lymphoma of the chest wall" EXACT [DOID:6758, NCIT:C6712]
synonym: "malignant neoplasm of chest wall" EXACT EXCLUDE [DOID:6758]
synonym: "malignant tumor of chest wall" EXACT EXCLUDE [DOID:6758]
synonym: "primary chest wall lymphoma" EXACT [NCIT:C6712]
xref: DOID:6758 {source="MONDO:equivalentTo"}
xref: NCIT:C6712 {source="DOID:6758", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.80/0.52"}
xref: UMLS:C1332933 {source="DOID:6758", source="MONDO:equivalentTo", source="NCIT:C6712"}
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C6712/inferred", source="OWLReasoner:2017"} ! lymphoma
is_a: MONDO:0021323 {source="MONDO:Redundant", source="NCIT:C6712"} ! malignant neoplasm of chest wall
property_value: closeMatch http://identifiers.org/snomedct/188363005
property_value: closeMatch http://identifiers.org/snomedct/93754006
property_value: exactMatch DOID:6758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332933
property_value: exactMatch NCIT:C6712

[Term]
id: MONDO:0003987
name: lung lymphoma
def: "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." [NCIT:P378]
synonym: "lung lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of lung" EXACT [DOID:6760]
synonym: "lymphoma of the lung" EXACT [NCIT:C4794]
synonym: "primary lung lymphoma" EXACT [NCIT:C4794]
synonym: "pulmonary lymphoma" EXACT [DOID:6760, NCIT:C4794]
xref: DOID:6760 {source="MONDO:equivalentTo"}
xref: NCIT:C4794 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1704383 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="DOID:6760", source="MONDO:Redundant", source="NCIT:C4794/inferred"} ! lymphoma
is_a: MONDO:0008903 {source="DOID:6760", source="NCIT:C4794"} ! lung cancer
property_value: exactMatch DOID:6760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704383
property_value: exactMatch NCIT:C4794

[Term]
id: MONDO:0003988
name: sternum lymphoma
def: "A rare lymphoma that arises from the bone or soft tissue of the sternum." [NCIT:P378]
synonym: "lymphoma of sternum" EXACT [DOID:6762, NCIT:C6716]
synonym: "lymphoma of the sternum" EXACT [DOID:6762]
synonym: "primary sternal lymphoma" EXACT [NCIT:C6716]
synonym: "sternal lymphoma" EXACT [NCIT:C6716]
synonym: "sternum lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:6762 {source="MONDO:equivalentTo"}
xref: NCIT:C6716 {source="DOID:6762", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336504 {source="DOID:6762", source="MONDO:equivalentTo", source="NCIT:C6716"}
is_a: MONDO:0003273 {source="DOID:6762", source="NCIT:C6716"} ! sternum cancer
is_a: MONDO:0017814 ! primary bone lymphoma
property_value: exactMatch DOID:6762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336504
property_value: exactMatch NCIT:C6716

[Term]
id: MONDO:0003989
name: polyembryoma of the ovary
def: "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos." [NCIT:P378]
synonym: "ovarian polyembryoma" EXACT [NCIT:C39990]
synonym: "polyembryoma" RELATED [ONCOTREE:OPE]
xref: DOID:6774 {source="MONDO:equivalentTo"}
xref: NCIT:C39990 {source="DOID:6774", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:OPE {source="MONDO:equivalentTo"}
xref: UMLS:C1514199 {source="DOID:6774", source="NCIT:C39990", source="MONDO:equivalentTo"}
is_a: MONDO:0015863 {source="NCIT:C39990"} ! polyembryoma
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C39990"} ! malignant non-dysgerminomatous germ cell tumor of ovary
property_value: exactMatch DOID:6774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514199
property_value: exactMatch NCIT:C39990

[Term]
id: MONDO:0003990
name: malignant breast myoepithelioma
def: "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." [NCIT:P378]
synonym: "breast malignant myoepithelioma" EXACT [MONDO:patterns/location]
synonym: "breast myoepithelial carcinoma" EXACT [MONDO:patterns/location, NCIT:C40395]
synonym: "malignant breast myoepithelioma" EXACT [NCIT:C40395]
xref: DOID:6776 {source="MONDO:equivalentTo"}
xref: NCIT:C40395 {source="DOID:6776", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1518167 {source="DOID:6776", source="MONDO:equivalentTo", source="NCIT:C40395"}
is_a: MONDO:0002483 {source="MONDO:Redundant", source="NCIT:C40395"} ! breast myoepithelial tumor
is_a: MONDO:0003158 {source="DOID:6776", source="MONDO:Redundant", source="MONDOLEX:0003990", source="NCIT:C40395"} ! malignant myoepithelioma
is_a: MONDO:0006256 {source="NCIT:C40395"} ! invasive breast carcinoma
property_value: exactMatch DOID:6776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518167
property_value: exactMatch NCIT:C40395

[Term]
id: MONDO:0003991
name: villoglandular endometrial endometrioid adenocarcinoma
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells." [NCIT:C27846]
synonym: "villoglandular endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27846]
xref: DOID:6777 {source="MONDO:equivalentTo"}
xref: NCIT:C27846 {source="DOID:6777", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336962 {source="DOID:6777", source="MONDO:equivalentTo", source="NCIT:C27846"}
is_a: MONDO:0003204 {source="NCIT:C27846"} ! villous adenocarcinoma
is_a: MONDO:0005461 {source="DOID:6777", source="MONDOLEX:0003991", source="NCIT:C27846/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="MONDOLEX:0003991", source="NCIT:C27846"} ! endometrial endometrioid adenocarcinoma
property_value: exactMatch DOID:6777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336962
property_value: exactMatch NCIT:C27846

[Term]
id: MONDO:0003992
name: childhood botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:P378]
synonym: "botryoid rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35574]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35574]
synonym: "childhood sarcoma Botryoides" EXACT [DOID:6786, NCIT:C35574]
synonym: "pediatric botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric botryoid rhabdomyosarcoma" RELATED [MONDO:patterns/childhood]
xref: DOID:6786 {source="MONDO:equivalentTo"}
xref: NCIT:C35574 {source="DOID:6786", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.84"}
xref: UMLS:C1332944 {source="DOID:6786", source="MONDO:equivalentTo"}
is_a: MONDO:0002578 {source="DOID:6786", source="MONDO:Redundant", source="MONDOLEX:0003992", source="NCIT:C35574"} ! botryoid rhabdomyosarcoma
is_a: MONDO:0006517 ! childhood malignant neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279616
property_value: exactMatch DOID:6786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332944
property_value: exactMatch NCIT:C35574

[Term]
id: MONDO:0003993
name: childhood vagina botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:P378]
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C35556]
synonym: "childhood sarcoma Botryoides of the vagina" EXACT [NCIT:C35556]
synonym: "pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" RELATED [MONDO:patterns/childhood]
synonym: "vaginal childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35556]
synonym: "vaginal childhood sarcoma Botryoides" EXACT [DOID:6787, NCIT:C35556]
xref: DOID:6787 {source="MONDO:equivalentTo"}
xref: NCIT:C35556 {source="DOID:6787", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332945 {source="DOID:6787", source="MONDO:equivalentTo", source="NCIT:C35556"}
is_a: MONDO:0003992 ! childhood botryoid rhabdomyosarcoma
is_a: MONDO:0003994 {source="DOID:6787", source="MONDO:Redundant", source="MONDOLEX:0003993", source="NCIT:C35556"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina
property_value: exactMatch DOID:6787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332945
property_value: exactMatch NCIT:C35556

[Term]
id: MONDO:0003994
name: botryoid-type embryonal rhabdomyosarcoma of the vagina
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:C40268]
synonym: "botryoid rhabdomyosarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40268]
synonym: "sarcoma Botryoides of the vagina" EXACT [NCIT:C40268]
synonym: "vagina botryoid rhabdomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6788 {source="MONDO:equivalentTo"}
xref: NCIT:C40268 {source="DOID:6788", source="MONDO:equivalentTo"}
xref: UMLS:C1511275 {source="MEDGEN:kboom-pr98-c99", source="DOID:6788", source="MONDO:equivalentTo", source="NCIT:C40268"}
is_a: MONDO:0002578 {source="DOID:6788", source="MONDO:Redundant", source="MONDOLEX:0003994", source="NCIT:C40268"} ! botryoid rhabdomyosarcoma
is_a: MONDO:0016095 {source="MONDO:Redundant", source="NCIT:C40268"} ! vaginal rhabdomyosarcoma
property_value: exactMatch DOID:6788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511275
property_value: exactMatch NCIT:C40268

[Term]
id: MONDO:0003995
name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:C36098]
synonym: "childhood botryoid rhabdomyosarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vulva" EXACT [NCIT:C36098]
synonym: "childhood sarcoma Botryoides of the vulva" EXACT [DOID:6789, NCIT:C36098]
synonym: "mammalian vulva childhood botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C36098]
xref: DOID:6789 {source="MONDO:equivalentTo"}
xref: NCIT:C36098 {source="DOID:6789", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332946 {source="NCIT:C36098", source="DOID:6789", source="MONDO:equivalentTo"}
is_a: MONDO:0003992 {source="MONDO:Redundant", source="MONDOLEX:0003995", source="NCIT:C36098"} ! childhood botryoid rhabdomyosarcoma
is_a: MONDO:0005214 {source="DOID:6789", source="MONDO:Redundant", source="NCIT:C36098"} ! vulva sarcoma
property_value: exactMatch DOID:6789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332946
property_value: exactMatch NCIT:C36098

[Term]
id: MONDO:0003996
name: basal ganglia disease
def: "A disease involving the basal ganglia." [MONDO:DesignPattern]
synonym: "basal ganglia disease" EXACT [MONDO:patterns/location]
synonym: "collection of basal ganglia disease" EXACT [MONDO:patterns/location]
synonym: "collection of basal ganglia disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of basal ganglia" EXACT [MONDO:patterns/location_top]
synonym: "disease of collection of basal ganglia" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of collection of basal ganglia" EXACT []
synonym: "disorder of basal ganglia" RELATED [MONDO:patterns/location_top]
synonym: "disorder of collection of basal ganglia" EXACT [MONDO:patterns/location_top]
synonym: "disorder of collection of basal ganglia" RELATED [MONDO:patterns/location_top]
xref: CSP:2057-3403 {source="DOID:679"}
xref: DOID:679 {source="MONDO:equivalentTo"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001480 {source="DOID:679", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70835005 {source="DOID:679", source="MONDO:equivalentTo"}
xref: UMLS:C0004782 {source="DOID:679", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:679", source="MESH:D001480", source="MONDO:Redundant", source="linkedlifedata"} ! brain disease
property_value: exactMatch DOID:679
property_value: exactMatch http://identifiers.org/mesh/D001480
property_value: exactMatch http://identifiers.org/snomedct/70835005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004782

[Term]
id: MONDO:0003997
name: colon Kaposi sarcoma
def: "A Kaposi sarcoma arising from the colon." [NCIT:C5516]
synonym: "colon Kaposi sarcoma" EXACT [NCIT:C5516]
synonym: "colon Kaposi's sarcoma" EXACT [NCIT:C5516]
synonym: "colon Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "colon Kaposis sarcoma" EXACT [NCIT:C5516]
synonym: "colonic Kaposi sarcoma" EXACT [NCIT:C5516]
synonym: "colonic Kaposi's sarcoma" EXACT [DOID:6804, NCIT:C5516]
synonym: "colonic Kaposis sarcoma" EXACT [NCIT:C5516]
synonym: "Kaposi's sarcoma (disease) of colon" EXACT []
synonym: "Kaposi's sarcoma of colon" EXACT [NCIT:C5516]
synonym: "Kaposi's sarcoma of the colon" EXACT [NCIT:C5516]
xref: DOID:6804 {source="MONDO:equivalentTo"}
xref: NCIT:C5516 {source="MONDO:equivalentTo", source="DOID:6804", source="exact-label-match"}
xref: UMLS:C1333091 {source="MONDO:equivalentTo", source="DOID:6804", source="NCIT:C5516"}
is_a: MONDO:0003352 {source="DOID:6804", source="MONDO:Redundant", source="MONDOLEX:0003997", source="NCIT:C5516"} ! colon sarcoma
is_a: MONDO:0024659 ! colorectal Kaposi sarcoma
property_value: exactMatch DOID:6804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333091
property_value: exactMatch NCIT:C5516

[Term]
id: MONDO:0003998
name: vaginal tubular adenoma
def: "An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." [NCIT:C40257]
synonym: "vaginal tubular adenoma" EXACT [NCIT:C40257]
xref: DOID:6809 {source="MONDO:equivalentTo"}
xref: NCIT:C40257 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6809"}
xref: UMLS:C1519932 {source="MONDO:equivalentTo", source="DOID:6809", source="NCIT:C40257"}
is_a: MONDO:0003434 {source="DOID:6809", source="MONDO:Redundant", source="NCIT:C40257"} ! vaginal adenoma
is_a: MONDO:0024660 {source="MONDO:Redundant", source="MONDOLEX:0003998", source="NCIT:C40257"} ! tubular adenoma
property_value: exactMatch DOID:6809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519932
property_value: exactMatch NCIT:C40257

[Term]
id: MONDO:0003999
name: juvenile pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during adolescence." [NCIT:C27081]
synonym: "juvenile pilocytic astrocytoma" EXACT [NCIT:C27081]
xref: DOID:6811 {source="MONDO:equivalentTo"}
xref: NCIT:C27081 {source="DOID:6811", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0280783 {source="DOID:6811", source="MONDO:equivalentTo", source="NCIT:C27081"}
is_a: MONDO:0004000 {source="DOID:6811", source="NCIT:C27081"} ! childhood pilocytic astrocytoma
property_value: exactMatch DOID:6811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280783
property_value: exactMatch NCIT:C27081

[Term]
id: MONDO:0004000
name: childhood pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during childhood." [NCIT:C4048]
synonym: "childhood pilocytic astrocytoma" EXACT [NCIT:C4048]
synonym: "pediatric pilocytic astrocytoma" EXACT [DOID:6812, MONDO:patterns/childhood, NCIT:C4048]
synonym: "pediatric pilocytic astrocytoma" RELATED [MONDO:patterns/childhood]
synonym: "pilocytic astrocytoma" EXACT [NCIT:C4048]
synonym: "pilocytic astrocytoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C4048]
xref: DOID:6812 {source="MONDO:equivalentTo"}
xref: NCIT:C4048 {source="MONDO:equivalentTo", source="DOID:6812", source="exact-label-match"}
xref: UMLS:C1332995 {source="MONDO:equivalentTo", source="DOID:6812", source="NCIT:C4048"}
is_a: MONDO:0002505 ! childhood astrocytic tumor
is_a: MONDO:0016691 {source="DOID:6812", source="MONDO:Redundant", source="NCIT:C4048"} ! pilocytic astrocytoma
property_value: exactMatch DOID:6812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332995
property_value: exactMatch NCIT:C4048

[Term]
id: MONDO:0004001
name: compartment syndrome
def: "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." [NCIT:P378]
subset: gard_rare {source="GARD:0006141"}
synonym: "compartment syndrome" EXACT [DOID:682]
synonym: "compartmental syndrome" EXACT [DOID:682]
synonym: "compartmental syndrome, NOS" RELATED EXCLUDE [DOID:682]
xref: COHD:134734 {source="MONDO:equivalentTo"}
xref: DOID:682 {source="MONDO:equivalentTo"}
xref: GARD:0006141 {source="MONDO:equivalentTo"}
xref: ICD10:T79.A0 {source="DOID:682"}
xref: ICD9:958.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:958.90 {source="DOID:682"}
xref: MESH:D003161 {source="MONDO:equivalentTo", source="DOID:682", source="MONDO:ontobio"}
xref: NCIT:C118422 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:682"}
xref: SCTID:111245009 {source="MONDO:equivalentTo", source="DOID:682", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0009492 {source="NCIT:C118422", source="MONDO:equivalentTo", source="DOID:682"}
is_a: MONDO:0002254 {source="MONDOLEX:0004001", source="NCIT:C118422"} ! syndromic disease
relationship: disease_has_feature MONDO:0005053 ! ischemic disease
relationship: excluded_subClassOf MONDO:0005053 {source="DOID:682"} ! ischemic disease
property_value: closeMatch http://identifiers.org/snomedct/212379008
property_value: exactMatch DOID:682
property_value: exactMatch http://identifiers.org/mesh/D003161
property_value: exactMatch http://identifiers.org/snomedct/111245009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009492
property_value: exactMatch NCIT:C118422
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome xsd:anyURI {source="GARD:0006141"}

[Term]
id: MONDO:0004002
name: obsolete pancreatoblastoma
is_obsolete: true
replaced_by: MONDO:0019035

[Term]
id: MONDO:0004003
name: obsolete pancreatic solid pseudopapillary carcinoma
is_obsolete: true
replaced_by: MONDO:0018525

[Term]
id: MONDO:0004004
name: motor nerve neuritis
def: "Inflammation of the peripheral motor nerves." [MONDO:cjm]
synonym: "motor neuritis" EXACT [DOID:683]
xref: DOID:683 {source="MONDO:equivalentTo"}
xref: UMLS:C0235025 {source="MONDO:equivalentTo", source="NCIT:C3500", source="DOID:683"}
is_a: MONDO:0002122 ! neuritis
is_a: MONDO:0002316 ! motor peripheral neuropathy
relationship: excluded_subClassOf MONDO:0020128 {source="DOID:683"} ! motor neuron disease
property_value: exactMatch DOID:683
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235025

[Term]
id: MONDO:0004005
name: rete ovarii adenoma
def: "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign." [NCIT:P378]
synonym: "adenoma, rete ovarii, benign" EXACT [NCIT:C40018]
synonym: "rete ovarii adenoma" EXACT [MONDO:patterns/location]
xref: DOID:6837 {source="MONDO:equivalentTo"}
xref: NCIT:C40018 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6837"}
xref: UMLS:C1514905 {source="NCIT:C40018", source="MONDO:equivalentTo", source="DOID:6837"}
is_a: MONDO:0000646 ! ovarian benign neoplasm
is_a: MONDO:0002229 ! ovarian epithelial tumor
is_a: MONDO:0003192 {source="DOID:6837", source="MONDO:Redundant", source="NCIT:C40018"} ! rete ovarii neoplasm
is_a: MONDO:0004972 {source="DOID:6837", source="MONDO:Redundant", source="NCIT:C40018"} ! adenoma
is_a: MONDO:0024276 {source="NCIT:C40018"} ! glandular cell neoplasm
is_a: MONDO:0036976 {source="MONDO:Redundant", source="NCIT:C40018"} ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/703654008
property_value: exactMatch DOID:6837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514905
property_value: exactMatch NCIT:C40018

[Term]
id: MONDO:0004006
name: rete ovarii cystadenofibroma
def: "An exceptionally rare cystadenofibroma that arises from the rete ovarii." [NCIT:P378]
synonym: "cystadenofibroma of rete ovarii" EXACT [MONDO:design_pattern]
synonym: "rete ovarii cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:6838 {source="MONDO:equivalentTo"}
xref: NCIT:C40020 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6838"}
xref: UMLS:C1514906 {source="MONDO:equivalentTo", source="NCIT:C40020", source="DOID:6838"}
is_a: MONDO:0000646 ! ovarian benign neoplasm
is_a: MONDO:0003192 {source="DOID:6838", source="MONDO:Redundant", source="NCIT:C40020"} ! rete ovarii neoplasm
is_a: MONDO:0003464 {source="DOID:6838", source="MONDO:Redundant", source="MONDOLEX:0004006", source="NCIT:C40020"} ! cystadenofibroma
property_value: exactMatch DOID:6838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514906
property_value: exactMatch NCIT:C40020

[Term]
id: MONDO:0004007
name: breast intraductal proliferative lesion
def: "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." [NCIT:P378]
synonym: "DIN" EXACT [NCIT:C27942]
synonym: "ductal intraepithelial neoplasia" EXACT [NCIT:C27942]
synonym: "intraductal proliferative lesion" EXACT [DOID:6839, NCIT:C27942]
synonym: "intraductal proliferative lesion of the breast" EXACT [NCIT:C27942]
synonym: "mammary intraepithelial neoplasia, ductal type" EXACT [NCIT:C27942]
xref: DOID:6839 {source="MONDO:equivalentTo"}
xref: NCIT:C27942 {source="MONDO:kboom-pr-1.00/0.91/28.46", source="MONDO:equivalentTo", source="DOID:6839"}
xref: UMLS:C1334631 {source="MONDO:equivalentTo", source="NCIT:C27942", source="DOID:6839"}
is_a: MONDO:0002488 {source="DOID:6839", source="NCIT:C27942"} ! intraductal breast neoplasm
property_value: exactMatch DOID:6839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334631
property_value: exactMatch NCIT:C27942

[Term]
id: MONDO:0004008
name: flat ductal epithelial atypia
def: "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia." [NCIT:P378]
synonym: "clinging carcinoma" EXACT [NCIT:C36086]
synonym: "DIN 1A" EXACT [NCIT:C36086]
synonym: "ductal intraepithelial neoplasia, grade 1A" EXACT [NCIT:C36086]
synonym: "FEA" EXACT [NCIT:C36086]
synonym: "flat ductal epithelial atypia" EXACT [DOID:6841, NCIT:C36086]
synonym: "flat ductal epithelial atypia of the breast" EXACT [NCIT:C36086]
synonym: "flat epithelial atypia" EXACT [NCIT:C36086]
synonym: "flat epithelial atypia of the breast" EXACT [NCIT:C36086]
xref: DOID:6841 {source="MONDO:equivalentTo"}
xref: NCIT:C36086 {source="MONDO:kboom-pr-1.00/0.91/28.46", source="DOID:6841", source="MONDO:equivalentTo"}
xref: UMLS:C1333620 {source="NCIT:C36086", source="DOID:6841", source="MONDO:equivalentTo"}
is_a: MONDO:0004007 {source="DOID:6841", source="NCIT:C36086"} ! breast intraductal proliferative lesion
property_value: exactMatch DOID:6841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333620
property_value: exactMatch NCIT:C36086

[Term]
id: MONDO:0004009
name: kidney pelvis sarcomatoid transitional cell carcinoma
def: "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." [NCIT:P378]
synonym: "infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant" EXACT [NCIT:C6186]
synonym: "kidney pelvis sarcomatoid transitional cell carcinoma" EXACT [NCIT:C6186]
synonym: "renal pelvis sarcomatoid transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "sarcomatoid transitional cell carcinoma of kidney pelvis" EXACT [NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of renal pelvis" EXACT [DOID:6844, NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of the kidney pelvis" EXACT [NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of the renal pelvis" EXACT [NCIT:C6186]
xref: DOID:6844 {source="MONDO:equivalentTo"}
xref: NCIT:C6186 {source="DOID:6844", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335752 {source="NCIT:C6186", source="DOID:6844", source="MONDO:equivalentTo"}
is_a: MONDO:0002837 {source="DOID:6844", source="MONDO:Redundant", source="MONDOLEX:0004009", source="NCIT:C6186"} ! sarcomatoid transitional cell carcinoma
is_a: MONDO:0005221 ! renal pelvis urothelial carcinoma
relationship: excluded_subClassOf MONDO:0000381 {source="DOID:6844"} ! infiltrating renal pelvis transitional cell carcinoma
property_value: exactMatch DOID:6844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335752
property_value: exactMatch NCIT:C6186

[Term]
id: MONDO:0004010
name: infiltrating renal pelvis/ureter urothelial carcinoma
synonym: "infiltrating renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C39879]
synonym: "infiltrating renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C39879]
synonym: "infiltrating ureter transitional cell carcinoma" NARROW [DOID:6845]
xref: NCIT:C39879 {source="MONDO:equivalentTo", source="DOID:6845"}
xref: UMLS:C1512750 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6845", source="NCIT:C39879"}
is_a: MONDO:0040678 {source="NCIT:C39879"} ! infiltrating urothelial carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512750
property_value: exactMatch NCIT:C39879

[Term]
id: MONDO:0004011
name: obsolete familial melanoma
is_obsolete: true
replaced_by: MONDO:0018961

[Term]
id: MONDO:0004012
name: adult botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:C36099]
synonym: "adult botryoid sarcoma" EXACT [NCIT:C36099]
synonym: "adult botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C36099]
synonym: "botryoid rhabdomyosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6847 {source="MONDO:equivalentTo"}
xref: NCIT:C36099 {source="MONDO:equivalentTo", source="DOID:6847"}
xref: UMLS:C1332185 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C36099", source="MONDO:equivalentTo", source="DOID:6847"}
is_a: MONDO:0002578 {source="DOID:6847", source="MONDO:Redundant", source="MONDOLEX:0004012", source="NCIT:C36099"} ! botryoid rhabdomyosarcoma
property_value: exactMatch DOID:6847
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332185
property_value: exactMatch NCIT:C36099

[Term]
id: MONDO:0004013
name: adult vagina botryoid embryonal rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults." [NCIT:C40267]
comment: Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma
synonym: "adult botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40267]
synonym: "adult sarcoma Botryoides of the vagina" EXACT [NCIT:C40267]
synonym: "adult vagina botryoid rhabdomyosarcoma" RELATED [DOID:6848]
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6848 {source="MONDO:equivalentTo"}
xref: NCIT:C40267 {source="MONDO:equivalentTo", source="DOID:6848"}
xref: UMLS:C1515893 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6848", source="NCIT:C40267"}
is_a: MONDO:0003994 {source="DOID:6848", source="MONDO:Redundant", source="MONDOLEX:0004013", source="NCIT:C40267"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina
is_a: MONDO:0004012 ! adult botryoid rhabdomyosarcoma
property_value: exactMatch DOID:6848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515893
property_value: exactMatch NCIT:C40267

[Term]
id: MONDO:0004014
name: ethmoid sinus ectopic meningioma
def: "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus." [NCIT:P378]
synonym: "ethmoid sinus primary ectopic meningioma" EXACT [NCIT:C5309]
synonym: "ethmoidal sinus primary ectopic meningioma" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of ethmoid sinus" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of ethmoidal sinus" EXACT [DOID:6854, NCIT:C5309]
synonym: "primary ectopic meningioma of the ethmoid sinus" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of the ethmoidal sinus" EXACT [NCIT:C5309]
xref: DOID:6854 {source="MONDO:equivalentTo"}
xref: NCIT:C5309 {source="DOID:6854", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333475 {source="DOID:6854", source="MONDO:equivalentTo", source="NCIT:C5309"}
is_a: MONDO:0001764 {source="DOID:6854", source="NCIT:C5309"} ! ethmoidal sinus neoplasm
property_value: exactMatch DOID:6854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333475
property_value: exactMatch NCIT:C5309

[Term]
id: MONDO:0004015
name: pineal region teratoma
def: "A mature or immature teratoma that arises in the pineal region." [NCIT:P378]
synonym: "pineal area teratoma" EXACT [NCIT:C6753]
synonym: "teratoma of pineal area" EXACT [DOID:6856, NCIT:C6753]
synonym: "teratoma of pineal region" EXACT [NCIT:C6753]
synonym: "teratoma of the pineal area" EXACT [NCIT:C6753]
synonym: "teratoma of the pineal region" EXACT [NCIT:C6753]
xref: DOID:6856 {source="MONDO:equivalentTo"}
xref: NCIT:C6753 {source="MONDO:equivalentTo", source="DOID:6856", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335419 {source="MONDO:equivalentTo", source="NCIT:C6753", source="DOID:6856"}
is_a: MONDO:0002718 {source="MONDO:Redundant", source="NCIT:C6753"} ! central nervous system teratoma
is_a: MONDO:0021232 ! pineal body neoplasm
relationship: excluded_subClassOf MONDO:0002073 {source="DOID:6856"} ! malignant pineal area germ cell neoplasm
property_value: exactMatch DOID:6856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335419
property_value: exactMatch NCIT:C6753

[Term]
id: MONDO:0004016
name: pineal region mature teratoma
synonym: "mature teratoma of pineal area" EXACT [NCIT:C6754]
synonym: "mature teratoma of pineal region" EXACT [NCIT:C6754]
synonym: "mature teratoma of the pineal area" EXACT [DOID:6857, NCIT:C6754]
synonym: "mature teratoma of the pineal region" EXACT [NCIT:C6754]
synonym: "pineal area mature teratoma" EXACT [NCIT:C6754]
xref: DOID:6857 {source="MONDO:equivalentTo"}
xref: NCIT:C6754 {source="DOID:6857", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335417 {source="DOID:6857", source="MONDO:equivalentTo", source="NCIT:C6754"}
is_a: MONDO:0003733 {source="MONDO:Redundant", source="NCIT:C6754", source="OWLReasoner:2017"} ! central nervous system mature teratoma
is_a: MONDO:0004015 {source="DOID:6857", source="MONDO:Redundant", source="NCIT:C6754"} ! pineal region teratoma
property_value: exactMatch DOID:6857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335417
property_value: exactMatch NCIT:C6754

[Term]
id: MONDO:0004017
name: pineal region immature teratoma
synonym: "atypical pineal teratoma" EXACT [DOID:6858, NCIT:C6755]
synonym: "immature teratoma of pineal area" EXACT [NCIT:C6755]
synonym: "immature teratoma of pineal region" EXACT [NCIT:C6755]
synonym: "immature teratoma of the pineal area" EXACT [NCIT:C6755]
synonym: "immature teratoma of the pineal region" EXACT [NCIT:C6755]
synonym: "pineal area immature teratoma" EXACT [NCIT:C6755]
xref: DOID:6858 {source="MONDO:equivalentTo"}
xref: NCIT:C6755 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6858"}
xref: UMLS:C1335416 {source="MONDO:equivalentTo", source="NCIT:C6755", source="DOID:6858"}
is_a: MONDO:0002073 {source="DOID:6858/inferred", source="MONDO:Redundant", source="NCIT:C6755"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0003514 ! malignant teratoma
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0003735 {source="NCIT:C6755"} ! central nervous system immature teratoma
is_a: MONDO:0004015 {source="DOID:6858", source="MONDO:Redundant", source="NCIT:C6755"} ! pineal region teratoma
is_a: MONDO:0024746 ! immature teratoma
property_value: exactMatch DOID:6858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335416
property_value: exactMatch NCIT:C6755

[Term]
id: MONDO:0004018
name: obsolete liver carcinoma
def: "A carcinoma that involves the liver." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0007256

[Term]
id: MONDO:0004019
name: oxyphilic endometrial endometrioid adenocarcinoma
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." [NCIT:C27849]
synonym: "oxyphilic endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27849]
xref: DOID:6865 {source="MONDO:equivalentTo"}
xref: NCIT:C27849 {source="DOID:6865", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518768 {source="DOID:6865", source="MONDO:equivalentTo", source="NCIT:C27849"}
is_a: MONDO:0005461 {source="DOID:6865", source="MONDOLEX:0004019", source="NCIT:C27849/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="MONDOLEX:0004019", source="NCIT:C27849"} ! endometrial endometrioid adenocarcinoma
property_value: exactMatch DOID:6865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518768
property_value: exactMatch NCIT:C27849

[Term]
id: MONDO:0004020
name: mediastinal gray zone lymphoma
def: "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities." [NCIT:P378]
synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37870]
synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37870]
synonym: "mediastinal Gray zone lymphoma" EXACT [NCIT:C37870]
xref: DOID:6867 {source="MONDO:equivalentTo"}
xref: NCIT:C37870 {source="MONDO:equivalentTo", source="DOID:6867", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334657 {source="NCIT:C37870", source="MONDO:equivalentTo", source="DOID:6867"}
is_a: MONDO:0003658 {source="DOID:6867", source="MONDOLEX:0004020", source="NCIT:C37870"} ! B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma
is_a: MONDO:0004021 {source="DOID:6867", source="NCIT:C37870"} ! mediastinal malignant lymphoma
property_value: exactMatch DOID:6867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334657
property_value: exactMatch NCIT:C37870

[Term]
id: MONDO:0004021
name: mediastinal malignant lymphoma
def: "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:P378]
synonym: "lymphoma of mediastinum" EXACT [DOID:6868, NCIT:C6633]
synonym: "lymphoma of the mediastinum" EXACT [NCIT:C6633]
synonym: "mediastinal lymphoma" EXACT [NCIT:C6633]
synonym: "mediastinal malignant lymphoma" EXACT [NCIT:C6633]
synonym: "mediastinum lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary mediastinal lymphoma" EXACT [NCIT:C6633]
xref: DOID:6868 {source="MONDO:equivalentTo"}
xref: NCIT:C6633 {source="DOID:6868", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334665 {source="DOID:6868", source="MONDO:equivalentTo", source="NCIT:C6633"}
is_a: MONDO:0005062 {source="DOID:6868", source="MONDO:Redundant", source="NCIT:C6633/inferred"} ! lymphoma
is_a: MONDO:0005843 {source="DOID:6868", source="NCIT:C6633"} ! mediastinal cancer
property_value: exactMatch DOID:6868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334665
property_value: exactMatch NCIT:C6633

[Term]
id: MONDO:0004022
name: parasagittal meningioma
def: "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." [NCIT:C4960]
xref: DOID:6869 {source="MONDO:equivalentTo"}
xref: NCIT:C4960 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6869"}
xref: UMLS:C0751304 {source="MONDO:equivalentTo", source="NCIT:C4960", source="DOID:6869"}
is_a: MONDO:0003772 {source="DOID:6869/inferred", source="NCIT:C4960"} ! cerebral meningioma
relationship: excluded_subClassOf MONDO:0003774 {source="DOID:6869"} ! cerebral convexity meningioma
property_value: exactMatch DOID:6869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751304
property_value: exactMatch NCIT:C4960

[Term]
id: MONDO:0004023
name: obsolete hepatoblastoma
is_obsolete: true
replaced_by: MONDO:0018666

[Term]
id: MONDO:0004024
name: spinal cord neuroblastoma
def: "A neuroblastoma that affects the spinal cord." [NCIT:C5155]
synonym: "neuroblastoma of spinal cord" EXACT [NCIT:C5155]
synonym: "neuroblastoma of the spinal cord" EXACT [DOID:6871, NCIT:C5155]
synonym: "spinal cord neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C5155]
xref: DOID:6871 {source="MONDO:equivalentTo"}
xref: NCIT:C5155 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6871"}
xref: UMLS:C1336046 {source="NCIT:C5155", source="MONDO:equivalentTo", source="DOID:6871"}
is_a: MONDO:0000640 ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0002749 {source="NCIT:C5155"} ! extracranial neuroblastoma
is_a: MONDO:0003544 {source="DOID:6871/inferred", source="MONDO:Redundant", source="NCIT:C5155"} ! spinal cord cancer
property_value: exactMatch DOID:6871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336046
property_value: exactMatch NCIT:C5155

[Term]
id: MONDO:0004025
name: obsolete spinal cord embryonal tumor, not otherwise specified
is_obsolete: true
replaced_by: MONDO:0006426

[Term]
id: MONDO:0004026
name: skin tag
def: "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." [NCIT:P378]
synonym: "acrochordon" EXACT [NCIT:C3374]
synonym: "cutaneous fibroepithelial polyp" EXACT [NCIT:C3374]
synonym: "cutaneous tag" EXACT [CSP2005:2020-2747, DOID:6873]
synonym: "fibroepithelial polyp" EXACT [DOID:6873, NCIT:C3337]
synonym: "fibroepithelial polyp of skin" EXACT [DOID:6873, NCIT:C3374]
synonym: "fibroepithelial polyp of the skin" EXACT [NCIT:C3374]
synonym: "fibroma molle" EXACT [NCIT:C3374]
synonym: "soft fibroma" EXACT [DOID:6873]
xref: DOID:6873 {source="MONDO:equivalentTo"}
xref: NCIT:C3374 {source="DOID:6873", source="MONDO:equivalentTo"}
xref: SCTID:201091002 {source="DOID:6873", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.04"}
xref: UMLS:C0037293 {source="DOID:6873", source="MONDO:equivalentTo"}
is_a: MONDO:0006603 {source="DOID:6873"} ! reactive cutaneous fibrous lesion
is_a: MONDO:0060765 {source="NCIT:C3374"} ! fibroepithelial polyp
property_value: closeMatch http://identifiers.org/snomedct/156440000
property_value: closeMatch http://identifiers.org/snomedct/189051001
property_value: closeMatch http://identifiers.org/snomedct/255183007
property_value: closeMatch http://identifiers.org/snomedct/2710003
property_value: closeMatch http://identifiers.org/snomedct/31069005
property_value: closeMatch http://identifiers.org/snomedct/80801001
property_value: exactMatch DOID:6873
property_value: exactMatch http://identifiers.org/snomedct/201091002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037293
property_value: exactMatch NCIT:C3374

[Term]
id: MONDO:0004027
name: obsolete embryonal cancer
def: "A germ cell cancer that is associated with an embryo." [DOID:688, http://www.cancer.gov/dictionary/?CdrID=44250]
synonym: "embryo neoplasm" EXACT [CSP2005:2000-3997, DOID:688]
synonym: "embryonal neoplasm" EXACT [DOID:688, NCIT:C3264]
is_obsolete: true
consider: MONDO:0005564

[Term]
id: MONDO:0004028
name: small intestinal fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
synonym: "fibrosarcoma of small bowel" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of small intestine" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of the small bowel" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of the small intestine" EXACT [NCIT:C5336]
synonym: "fibrosarcoma, small intestine" EXACT [DOID:6880, NCIT:C5336]
synonym: "small bowel fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestinal fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestine fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestine fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6880 {source="MONDO:equivalentTo"}
xref: NCIT:C5336 {source="MONDO:equivalentTo", source="DOID:6880", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335994 {source="MONDO:equivalentTo", source="NCIT:C5336", source="DOID:6880"}
is_a: MONDO:0003361 {source="DOID:6880", source="MONDO:Redundant", source="NCIT:C5336"} ! small intestinal sarcoma
is_a: MONDO:0005164 {source="DOID:6880", source="MONDO:Redundant", source="MONDOLEX:0004028", source="NCIT:C5336/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:6880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335994
property_value: exactMatch NCIT:C5336

[Term]
id: MONDO:0004029
name: obsolete ureter small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006482

[Term]
id: MONDO:0004030
name: ureter transitional cell carcinoma
def: "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." [NCIT:P378]
synonym: "transitional cell carcinoma of the ureter" EXACT [NCIT:C4830]
synonym: "transitional cell carcinoma of ureter" EXACT [NCIT:C4830]
synonym: "ureter transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4830]
synonym: "ureter urothelial cancer" EXACT [NCIT:C4830]
synonym: "ureter urothelial carcinoma" EXACT [NCIT:C4830]
synonym: "ureteral transitional cell carcinoma" EXACT [NCIT:C4830]
synonym: "ureteral urothelial cell carcinoma" EXACT [DOID:6888, NCIT:C4830]
synonym: "urothelial cell carcinoma of the ureter" EXACT [NCIT:C4830]
synonym: "urothelial cell carcinoma of ureter" EXACT [NCIT:C4830]
xref: DOID:6888 {source="MONDO:equivalentTo"}
xref: EFO:1001973 {source="MONDO:equivalentTo"}
xref: NCIT:C4830 {source="DOID:6888", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:300988009 {source="DOID:6888", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0577692 {source="DOID:6888", source="MONDO:equivalentTo", source="NCIT:C4830"}
is_a: MONDO:0006481 {source="DOID:6888", source="EFO:1001973", source="MONDO:Redundant", source="MONDOLEX:0004030", source="NCIT:C4830"} ! ureter carcinoma
is_a: MONDO:0020654 ! renal pelvis/ureter urothelial carcinoma
property_value: exactMatch DOID:6888
property_value: exactMatch http://identifiers.org/snomedct/300988009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0577692
property_value: exactMatch NCIT:C4830

[Term]
id: MONDO:0004031
name: ovary mixed epithelial carcinoma
comment: Editor note: TODO
synonym: "mixed epithelial carcinoma of ovary" EXACT [DOID:6898, NCIT:C9123]
synonym: "mixed ovarian carcinoma" RELATED [ONCOTREE:MXOV]
xref: DOID:6898 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MXOV {source="MONDO:equivalentTo"}
is_a: MONDO:0005140 {source="DOID:6898", source="MONDOLEX:0004031"} ! ovarian carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279392
property_value: exactMatch DOID:6898

[Term]
id: MONDO:0004032
name: ovarian seromucinous carcinoma
def: "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." [NCIT:C40090]
synonym: "malignant ovarian mixed epithelial neoplasm" EXACT [NCIT:C40090]
synonym: "malignant ovarian mixed epithelial tumor" EXACT [NCIT:C40090]
synonym: "mixed epithelial carcinoma of ovary" EXACT [NCIT:C40090]
synonym: "mixed epithelial carcinoma of the ovary" EXACT [NCIT:C40090]
synonym: "ovarian mixed epithelial carcinoma" EXACT [NCIT:C40090]
synonym: "ovarian Seromucinous carcinoma" EXACT [NCIT:C40090]
xref: DOID:6899 {source="MONDO:equivalentTo"}
xref: EFO:1000358 {source="MONDO:equivalentTo"}
xref: NCIT:C40090 {source="DOID:6899", source="MONDO:equivalentTo"}
xref: ONCOTREE:OSMCA {source="MONDO:equivalentTo"}
xref: UMLS:C1518232 {source="DOID:6899", source="MONDO:equivalentTo"}
is_a: MONDO:0003811 {source="DOID:6899", source="MONDOLEX:0004032", source="NCIT:C40090"} ! ovarian seromucinous tumor
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C40090"} ! malignant mixed neoplasm
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40090"} ! malignant epithelial tumor of ovary
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279392
property_value: exactMatch DOID:6899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518232
property_value: exactMatch NCIT:C40090

[Term]
id: MONDO:0004033
name: familial ovarian carcinoma
def: "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." [NCIT:P378]
synonym: "familial ovarian carcinoma" EXACT [NCIT:C36102]
synonym: "familiar ovarian carcinoma" RELATED [DOID:6901]
synonym: "hereditary ovarian cancer" EXACT [NCIT:C36102]
synonym: "hereditary ovarian carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C36102]
xref: DOID:6901 {source="MONDO:equivalentTo"}
xref: NCIT:C36102 {source="DOID:6901", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333992 {source="DOID:6901", source="MONDO:equivalentTo", source="NCIT:C36102"}
is_a: MONDO:0005140 {source="MONDO:Redundant", source="MONDOLEX:0004033", source="NCIT:C36102", source="OWLReasoner:2017"} ! ovarian carcinoma
is_a: MONDO:0016248 ! familial ovarian cancer
intersection_of: MONDO:0005140 ! ovarian carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:6901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333992
property_value: exactMatch NCIT:C36102

[Term]
id: MONDO:0004034
name: eye lymphoma
def: "A lymphoma that involves the eye." [MONDO:patterns/location]
synonym: "eye lymphoma" EXACT [MONDO:patterns/location, NCIT:C35690]
synonym: "eyeball of camera-type eye lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
synonym: "primary eye lymphoma" EXACT [NCIT:C35690]
xref: DOID:6903 {source="MONDO:equivalentTo"}
xref: NCIT:C35690 {source="MONDO:equivalentTo", source="DOID:6903", source="exact-label-match"}
xref: UMLS:C1333519 {source="NCIT:C35690", source="MONDO:equivalentTo", source="DOID:6903"}
is_a: MONDO:0002236 {source="DOID:6903", source="NCIT:C35690"} ! ocular cancer
is_a: MONDO:0005062 {source="DOID:6903", source="MONDO:Redundant", source="NCIT:C35690/inferred"} ! lymphoma
property_value: exactMatch DOID:6903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333519
property_value: exactMatch NCIT:C35690

[Term]
id: MONDO:0004035
name: glomangiomatosis
def: "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces." [NCIT:C27496]
xref: DOID:6906 {source="MONDO:equivalentTo"}
xref: NCIT:C27496 {source="MONDO:equivalentTo", source="DOID:6906"}
xref: UMLS:C1333824 {source="NCIT:C27496", source="MONDO:equivalentTo", source="DOID:6906"}
is_a: MONDO:0003342 {source="DOID:6906", source="NCIT:C27496/inferred"} ! benign perivascular tumor
property_value: closeMatch http://identifiers.org/snomedct/703603008
property_value: exactMatch DOID:6906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333824
property_value: exactMatch NCIT:C27496

[Term]
id: MONDO:0004037
name: retinal edema
xref: COHD:372903 {source="MONDO:equivalentTo"}
xref: DOID:6929 {source="MONDO:equivalentTo"}
xref: ICD10:H35.81 {source="DOID:6929"}
xref: ICD9:362.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:6929"}
xref: SCTID:6141006 {source="MONDO:kboom-pr-0.92/0.83/0.18", source="MONDO:equivalentTo", source="DOID:6929"}
is_a: MONDO:0005283 {source="DOID:6929", source="linkedlifedata"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/193426002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242420
property_value: exactMatch DOID:6929
property_value: exactMatch http://identifiers.org/snomedct/6141006

[Term]
id: MONDO:0004038
name: dental enamel hypoplasia
def: "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth." [NCIT:P378]
synonym: "enamel hypoplasia" EXACT [DOID:693, MTHICD9_2006:520.4, NCIT:C34529]
xref: DOID:693 {source="MONDO:equivalentTo"}
xref: EFO:1001304 {source="MONDO:equivalentTo"}
xref: MESH:D003744 {source="MONDO:equivalentTo", source="DOID:693"}
xref: NCIT:C34529 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:693"}
xref: SCTID:26597004 {source="MONDO:equivalentTo", source="DOID:693", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0011351 {source="NCIT:C34529", source="MONDO:equivalentTo", source="DOID:693"}
is_a: MONDO:0002220 {source="DOID:693", source="linkedlifedata"} ! tooth hard tissue disease
property_value: closeMatch http://identifiers.org/snomedct/196277000
property_value: closeMatch http://identifiers.org/snomedct/699382004
property_value: closeMatch http://identifiers.org/snomedct/699421005
property_value: exactMatch DOID:693
property_value: exactMatch http://identifiers.org/mesh/D003744
property_value: exactMatch http://identifiers.org/snomedct/26597004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011351
property_value: exactMatch NCIT:C34529

[Term]
id: MONDO:0004039
name: papillary extrahepatic bile duct adenocarcinoma
xref: DOID:6931 {source="MONDO:equivalentTo"}
is_a: MONDO:0002665 {source="DOID:6931", source="MONDOLEX:0004039"} ! extrahepatic bile duct adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0861858
property_value: exactMatch DOID:6931

[Term]
id: MONDO:0004040
name: urinary bladder inverted papilloma
def: "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C39859]
synonym: "bladder inverted papilloma" EXACT [NCIT:C39859]
synonym: "urinary bladder inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C39859]
xref: DOID:6932 {source="MONDO:equivalentTo"}
xref: NCIT:C39859 {source="DOID:6932", source="MONDO:equivalentTo"}
xref: SCTID:447765004 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="DOID:6932", source="MONDO:equivalentTo"}
xref: UMLS:C1511190 {source="DOID:6932", source="MONDO:equivalentTo", source="NCIT:C39859"}
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C39859"} ! inverted urothelial papilloma
is_a: MONDO:0044906 ! bladder urothelial papilloma
property_value: exactMatch DOID:6932
property_value: exactMatch http://identifiers.org/snomedct/447765004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511190
property_value: exactMatch NCIT:C39859

[Term]
id: MONDO:0004041
name: urothelial papilloma
def: "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." [NCIT:C3842]
synonym: "bladder papilloma" EXACT [DOID:6933]
synonym: "bladder transitional cell papilloma" RELATED [DOID:6933]
synonym: "transitional cell papilloma of bladder" EXACT [DOID:6933]
synonym: "uPA" RELATED [ONCOTREE:UPA]
synonym: "urinary bladder urothelial papilloma" EXACT EXCLUDE [DOID:6933]
synonym: "urothelial papilloma" EXACT [NCIT:C3842]
xref: DOID:6933 {source="MONDO:equivalentTo"}
xref: ICDO:8120/1 {source="NCIT:C3842"}
xref: NCIT:C3842 {source="MONDO:kboom-pr-0.96/0.76/2.18", source="MONDO:equivalentTo", source="DOID:6933"}
xref: ONCOTREE:UPA {source="MONDO:equivalentTo"}
is_a: MONDO:0003443 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! papillary urothelial neoplasm
is_a: MONDO:0003755 {source="NCIT:C3842"} ! urinary tract non-invasive transitional cell neoplasm
is_a: MONDO:0004180 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! benign urinary system neoplasm
is_a: MONDO:0005605 {source="MONDOLEX:0004041", source="NCIT:C3842"} ! transitional cell papilloma
property_value: closeMatch http://identifiers.org/snomedct/154620001
property_value: closeMatch http://identifiers.org/snomedct/189459005
property_value: closeMatch http://identifiers.org/snomedct/269642004
property_value: closeMatch http://identifiers.org/snomedct/313414002
property_value: closeMatch http://identifiers.org/snomedct/45083001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0235754
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384678
property_value: exactMatch DOID:6933
property_value: exactMatch NCIT:C3842

[Term]
id: MONDO:0004042
name: urethra inverted papilloma
def: "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." [NCIT:C6173]
synonym: "inverted papilloma of the urethra" EXACT [DOID:6934, NCIT:C6173]
synonym: "inverted papilloma of urethra" EXACT [NCIT:C6173]
synonym: "urethra inverted papilloma" EXACT [NCIT:C6173]
synonym: "urethral inverted papilloma" EXACT [NCIT:C6173]
xref: DOID:6934 {source="MONDO:equivalentTo"}
xref: NCIT:C6173 {source="DOID:6934", source="MONDO:equivalentTo"}
xref: UMLS:C1336887 {source="DOID:6934", source="MONDO:equivalentTo", source="NCIT:C6173"}
is_a: MONDO:0002221 {source="DOID:6934", source="MONDO:Redundant", source="NCIT:C6173"} ! urethral urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6173"} ! inverted urothelial papilloma
property_value: exactMatch DOID:6934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336887
property_value: exactMatch NCIT:C6173

[Term]
id: MONDO:0004043
name: ureter inverted papilloma
def: "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C6174]
synonym: "inverted papilloma of the ureter" EXACT [NCIT:C6174]
synonym: "inverted papilloma of ureter" EXACT [NCIT:C6174]
synonym: "ureter inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6174]
synonym: "ureteral inverted papilloma" EXACT [DOID:6935, NCIT:C6174]
xref: DOID:6935 {source="MONDO:equivalentTo"}
xref: NCIT:C6174 {source="MONDO:equivalentTo", source="DOID:6935", source="exact-label-match"}
xref: UMLS:C1336874 {source="NCIT:C6174", source="MONDO:equivalentTo", source="DOID:6935"}
is_a: MONDO:0004044 {source="DOID:6935", source="MONDO:Redundant", source="NCIT:C6174"} ! ureter urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6174", source="OWLReasoner:2017"} ! inverted urothelial papilloma
property_value: exactMatch DOID:6935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336874
property_value: exactMatch NCIT:C6174

[Term]
id: MONDO:0004044
name: ureter urothelial papilloma
def: "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." [NCIT:C6160]
synonym: "ureter urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C6160]
xref: DOID:6936 {source="MONDO:equivalentTo"}
xref: NCIT:C6160 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:6936", source="exact-label-match"}
xref: UMLS:C1519823 {source="MONDO:equivalentTo", source="DOID:6936", source="NCIT:C6160"}
is_a: MONDO:0001398 {source="DOID:6936", source="MONDO:Redundant", source="NCIT:C6160"} ! ureter benign neoplasm
is_a: MONDO:0004041 {source="MONDO:Redundant", source="MONDOLEX:0004044", source="NCIT:C6160"} ! urothelial papilloma
property_value: exactMatch DOID:6936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519823
property_value: exactMatch NCIT:C6160

[Term]
id: MONDO:0004045
name: pediatric intraocular retinoblastoma
def: "Retinoblastoma during childhood that has not spread beyond the eye." [NCIT:P378]
synonym: "childhood intraocular retinoblastoma" EXACT [DOID:6938, NCIT:C9047]
synonym: "intraocular retinoblastoma" EXACT [NCIT:C9047]
synonym: "intraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric intraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9047]
xref: DOID:6938 {source="MONDO:equivalentTo"}
xref: NCIT:C9047 {source="MONDO:equivalentTo", source="DOID:6938", source="MONDO:kboom-pr-0.99/0.76/4.32"}
xref: UMLS:C1321869 {source="NCIT:C9047", source="MONDO:equivalentTo", source="DOID:6938"}
is_a: MONDO:0003077 {source="DOID:6938", source="MONDO:Redundant", source="MONDOLEX:0004045", source="NCIT:C9047"} ! intraocular retinoblastoma
is_a: MONDO:0006517 {source="NCIT:C9047", source="indirect"} ! childhood malignant neoplasm
property_value: exactMatch DOID:6938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321869
property_value: exactMatch NCIT:C9047

[Term]
id: MONDO:0004046
name: childhood brain meningioma
def: "A brain meningioma that occurs during childhood." [NCIT:P378]
synonym: "Brain meningioma" EXACT [NCIT:C6253]
synonym: "brain pediatric meningioma" EXACT [MONDO:patterns/location]
synonym: "childhood meningioma of brain" EXACT [NCIT:C6253]
synonym: "childhood meningioma of the brain" EXACT [NCIT:C6253]
synonym: "pediatric brain meningioma" EXACT [NCIT:C6253]
synonym: "pediatric meningioma of brain" EXACT [DOID:6939, NCIT:C6253]
synonym: "pediatric meningioma of the brain" EXACT [NCIT:C6253]
xref: DOID:6939 {source="MONDO:equivalentTo"}
xref: NCIT:C6253 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:6939"}
xref: UMLS:C1332949 {source="NCIT:C6253", source="MONDO:equivalentTo", source="DOID:6939"}
is_a: MONDO:0000642 {source="DOID:6939", source="MONDO:Redundant", source="MONDOLEX:0004046"} ! brain meningioma
is_a: MONDO:0003057 {source="DOID:6939", source="MONDO:Redundant", source="MONDOLEX:0004046", source="NCIT:C6253"} ! pediatric meningioma
property_value: exactMatch DOID:6939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332949
property_value: exactMatch NCIT:C6253

[Term]
id: MONDO:0004047
name: sphenoidal sinus neoplasm
alt_id: MONDO:0021216
def: "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:P378]
synonym: "neoplasm of sphenoid sinus" EXACT [NCIT:C6792]
synonym: "neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "neoplasm of the sphenoid sinus" EXACT [NCIT:C6792]
synonym: "neoplasm of the sphenoidal sinus" EXACT [NCIT:C6792]
synonym: "sphenoid sinus neoplasm" EXACT [NCIT:C6792]
synonym: "sphenoid sinus tumor" EXACT [NCIT:C6792]
synonym: "sphenoidal sinus neoplasm" EXACT [NCIT:C6792]
synonym: "sphenoidal sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sphenoidal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "tumor of sphenoid sinus" EXACT [NCIT:C6792]
synonym: "tumor of sphenoidal sinus" EXACT [DOID:6947, MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "tumor of the sphenoid sinus" EXACT [NCIT:C6792]
synonym: "tumor of the sphenoidal sinus" EXACT [NCIT:C6792]
xref: DOID:6947 {source="MONDO:equivalentTo"}
xref: NCIT:C6792 {source="MONDO:equivalentTo", source="DOID:6947", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: SCTID:126679002 {source="MONDO:equivalentTo", source="DOID:6947", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345676 {source="NCIT:C6792", source="MONDO:equivalentTo", source="DOID:6947"}
is_a: MONDO:0002785 ! skull base neoplasm
is_a: MONDO:0005289 {source="DOID:6947", source="MONDO:Redundant", source="NCIT:C6792", source="linkedlifedata"} ! paranasal sinus neoplasm (disease)
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:6947
property_value: exactMatch http://identifiers.org/snomedct/126679002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345676
property_value: exactMatch NCIT:C6792

[Term]
id: MONDO:0004048
name: immature gastric teratoma
def: "A malignant teratoma that arises from the stomach." [NCIT:C5256]
synonym: "immature gastric teratoma" EXACT [NCIT:C5256]
synonym: "malignant gastric teratoma" EXACT [NCIT:C5256]
synonym: "malignant teratoma of stomach" EXACT [DOID:6948, NCIT:C5256]
synonym: "malignant teratoma of the stomach" EXACT [NCIT:C5256]
synonym: "stomach malignant teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6948 {source="MONDO:equivalentTo"}
xref: NCIT:C5256 {source="MONDO:equivalentTo", source="DOID:6948"}
xref: UMLS:C1334151 {source="MONDO:equivalentTo", source="NCIT:C5256", source="DOID:6948"}
is_a: MONDO:0003112 {source="DOID:6948", source="MONDO:Redundant", source="NCIT:C5256"} ! malignant gastric germ cell tumor
is_a: MONDO:0003513 {source="DOID:6948", source="MONDO:Redundant", source="MONDOLEX:0004048", source="NCIT:C5256"} ! gastric teratoma
is_a: MONDO:0003514 {source="DOID:6948", source="MONDO:Redundant", source="MONDOLEX:0004048"} ! malignant teratoma
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
property_value: exactMatch DOID:6948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334151
property_value: exactMatch NCIT:C5256

[Term]
id: MONDO:0004049
name: combat disorder
def: "Neurotic reactions to unusual, severe, or overwhelming military stress." [MESH:D003130]
synonym: "combat disorder" EXACT [MESH:D003130]
synonym: "combat neuroses" RELATED [MESH:D003130]
synonym: "combat neurosis" EXACT [DOID:6950, MESH:D003130, NCIT:C34498]
synonym: "combat stress disorder" RELATED [MESH:D003130]
synonym: "combat stress disorders" RELATED [MESH:D003130]
synonym: "disorder, combat" RELATED [MESH:D003130]
synonym: "disorder, combat stress" RELATED [MESH:D003130]
synonym: "disorders, combat" RELATED [MESH:D003130]
synonym: "disorders, combat stress" RELATED [MESH:D003130]
synonym: "neuroses, combat" RELATED [MESH:D003130]
synonym: "neuroses, war" RELATED [MESH:D003130]
synonym: "neurosis, combat" RELATED [MESH:D003130]
synonym: "neurosis, war" RELATED [MESH:D003130]
synonym: "shell shock" RELATED [MESH:D003130]
synonym: "shell Shocks" RELATED [MESH:D003130]
synonym: "shock, shell" RELATED [MESH:D003130]
synonym: "Shocks, shell" RELATED [MESH:D003130]
synonym: "stress disorder, combat" RELATED [MESH:D003130]
synonym: "stress disorders, combat" RELATED [MESH:D003130]
synonym: "war neuroses" RELATED [MESH:D003130]
synonym: "war neurosis" RELATED [MESH:D003130]
xref: DOID:6950 {source="MONDO:equivalentTo"}
xref: MESH:D003130 {source="DOID:6950", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:279611005 {source="MONDO:equivalentTo"}
is_a: MONDO:0003763 {source="DOID:6950", source="MESH:D003130/inferred", source="linkedlifedata"} ! acute stress disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009426
property_value: exactMatch DOID:6950
property_value: exactMatch http://identifiers.org/mesh/D003130
property_value: exactMatch http://identifiers.org/snomedct/279611005
property_value: exactMatch NCIT:C34498

[Term]
id: MONDO:0004050
name: telangiectatic osteogenic sarcoma
def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma." [NCIT:P378]
synonym: "malignant bone aneurysm" EXACT [NCIT:C3902]
synonym: "telangiectatic osteosarcoma" EXACT [NCIT:C3902]
synonym: "telangiectatic osteosarcoma (morphologic abnormality)" EXACT [DOID:6951]
synonym: "TEOS" RELATED [ONCOTREE:TEOS]
xref: DOID:6951 {source="MONDO:equivalentTo"}
xref: ICDO:9183/3 {source="NCIT:C3902"}
xref: NCIT:C3902 {source="DOID:6951", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:TEOS {source="MONDO:equivalentTo"}
xref: UMLS:C0259782 {source="NCIT:C3902", source="DOID:6951", source="MONDO:equivalentTo"}
is_a: MONDO:0002629 {source="DOID:6951/inferred", source="NCIT:C3902/inferred"} ! bone osteosarcoma
relationship: excluded_subClassOf MONDO:0002631 {source="DOID:6951"} ! conventional osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/78453009
property_value: exactMatch DOID:6951
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259782
property_value: exactMatch NCIT:C3902

[Term]
id: MONDO:0004051
name: aleukemic monocytic leukemia cutis
synonym: "aleukemic monocytic leukemia cutis" EXACT [NCIT:C5630]
xref: DOID:6958 {source="MONDO:equivalentTo"}
xref: NCIT:C5630 {source="MONDO:equivalentTo", source="DOID:6958", source="exact-label-match"}
xref: UMLS:C1332232 {source="MONDO:equivalentTo", source="NCIT:C5630", source="DOID:6958"}
is_a: MONDO:0003729 {source="DOID:6958", source="NCIT:C5630"} ! aleukemic leukemia cutis
is_a: MONDO:0007896 {source="MONDOLEX:0004051", source="NCIT:C5630"} ! acute monocytic leukemia
property_value: exactMatch DOID:6958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332232
property_value: exactMatch NCIT:C5630

[Term]
id: MONDO:0004052
name: rectal cloacogenic carcinoma
def: "A carcinoma that arises from the transitional zone at the junction of the rectum and anus." [NCIT:P378]
synonym: "cloacogenic carcinoma of rectum" EXACT [NCIT:C5555]
synonym: "cloacogenic carcinoma of the rectum" EXACT [NCIT:C5555]
synonym: "rectal cloacogenic carcinoma" EXACT [NCIT:C5555]
synonym: "rectal transition zone carcinoma" EXACT [NCIT:C5555]
synonym: "rectal transitional zone carcinoma" EXACT [NCIT:C5555]
synonym: "transition zone carcinoma of rectum" EXACT [NCIT:C5555]
synonym: "transition zone carcinoma of the rectum" EXACT [NCIT:C5555]
synonym: "transitional zone carcinoma of rectum" EXACT [DOID:6959, NCIT:C5555]
synonym: "transitional zone carcinoma of the rectum" EXACT [NCIT:C5555]
xref: DOID:6959 {source="MONDO:equivalentTo"}
xref: NCIT:C5555 {source="MONDO:equivalentTo", source="DOID:6959", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333074 {source="MONDO:equivalentTo", source="NCIT:C5555", source="DOID:6959"}
is_a: MONDO:0018515 {source="DOID:6959", source="NCIT:C5555"} ! squamous cell carcinoma of rectum
property_value: exactMatch DOID:6959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333074
property_value: exactMatch NCIT:C5555

[Term]
id: MONDO:0004053
name: bartholin gland squamous cell carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." [NCIT:C40293]
synonym: "bartholin gland squamous cell carcinoma" EXACT [NCIT:C40293]
synonym: "Bartholin's gland squamous cell carcinoma" EXACT [DOID:6961, MONDO:0006101, NCIT:C40293]
synonym: "major vestibular gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6961 {source="MONDO:equivalentTo"}
xref: EFO:1000104 {source="MONDO:equivalentTo"}
xref: NCIT:C40293 {source="DOID:6961", source="MONDO:equivalentTo", source="EFO:1000104"}
xref: UMLS:C1511052 {source="DOID:6961", source="MONDO:equivalentTo", source="NCIT:C40293"}
is_a: MONDO:0002829 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! bartholin gland carcinoma
is_a: MONDO:0024609 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! vulvar squamous cell carcinoma
property_value: exactMatch DOID:6961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511052
property_value: exactMatch NCIT:C40293

[Term]
id: MONDO:0004054
name: acute canaliculitis
synonym: "acute canaliculitis, lacrimal" EXACT [DOID:6969, ICD9CM_2006:375.31]
synonym: "acute lacrimal canaliculitis" EXACT [DOID:6969]
xref: COHD:436414 {source="MONDO:equivalentTo"}
xref: DOID:6969 {source="MONDO:equivalentTo"}
xref: ICD10:H04.33 {source="DOID:6969"}
xref: ICD9:375.31 {source="MONDO:equivalentTo", source="DOID:6969", source="i2s"}
xref: SCTID:84399007 {source="MONDO:equivalentTo", source="DOID:6969", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339130 {source="MONDO:equivalentTo", source="DOID:6969"}
is_a: MONDO:0004055 {source="DOID:6969"} ! acute inflammation of lacrimal passage
property_value: exactMatch DOID:6969
property_value: exactMatch http://identifiers.org/snomedct/84399007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339130

[Term]
id: MONDO:0004055
name: acute inflammation of lacrimal passage
xref: DOID:6970 {source="MONDO:equivalentTo"}
xref: ICD10:H04.3 {source="DOID:6970"}
xref: ICD9:375.3 {source="DOID:6970"}
xref: SCTID:302900006 {source="MONDO:equivalentTo", source="DOID:6970"}
xref: UMLS:C0339129 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="DOID:6970"}
is_a: MONDO:0001854 {source="DOID:6970", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
property_value: closeMatch http://identifiers.org/snomedct/193986007
property_value: closeMatch http://identifiers.org/snomedct/267652006
property_value: exactMatch DOID:6970
property_value: exactMatch http://identifiers.org/snomedct/302900006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339129

[Term]
id: MONDO:0004056
name: bladder papillary urothelial carcinoma
def: "An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003" [NCIT:C7383]
synonym: "bladder papillary urothelial carcinoma" EXACT [NCIT:C7383]
synonym: "bladder urothelial papillary carcinoma" RELATED [DOID:6975]
synonym: "urinary bladder papillary transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "urothelial papillary carcinoma of the bladder" EXACT [DOID:6975, NCIT:C7383]
xref: DOID:6975 {source="MONDO:equivalentTo"}
xref: NCIT:C7383 {source="DOID:6975", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518882 {source="DOID:6975", source="MONDO:equivalentTo", source="NCIT:C7383"}
is_a: MONDO:0003442 {source="NCIT:C7383"} ! bladder papillary urothelial neoplasm
is_a: MONDO:0005611 {source="DOID:6975", source="MONDO:Redundant", source="NCIT:C7383"} ! bladder transitional cell carcinoma
is_a: MONDO:0006350 {source="MONDO:Redundant", source="MONDOLEX:0004056", source="NCIT:C7383"} ! papillary transitional cell carcinoma
property_value: exactMatch DOID:6975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518882
property_value: exactMatch NCIT:C7383

[Term]
id: MONDO:0004057
name: micropapillary variant infiltrating bladder urothelial carcinoma
def: "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" [NCIT:P378]
synonym: "infiltrating bladder urothelial carcinoma, micropapillary variant" EXACT [NCIT:C27202]
xref: DOID:6976 {source="MONDO:equivalentTo"}
xref: EFO:0008512 {source="MONDO:equivalentTo"}
xref: NCIT:C27202 {source="DOID:6976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.55"}
xref: UMLS:C1517579 {source="DOID:6976", source="NCIT:C27202", source="MONDO:equivalentTo"}
is_a: MONDO:0003890 {source="DOID:6976", source="MONDOLEX:0004057", source="NCIT:C27202"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:6976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517579
property_value: exactMatch NCIT:C27202

[Term]
id: MONDO:0004058
name: pancreatic cholera
def: "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells." [NCIT:P378]
synonym: "excessive vasoactive intestinal peptide secretion" EXACT [DOID:6977]
synonym: "islet cell WDHA syndrome" EXACT [NCIT:C3488]
synonym: "pancreatic WDHA syndrome" EXACT [DOID:6977, NCIT:C3488]
synonym: "Verner Morrison syndrome" EXACT [NCIT:C3488]
synonym: "Verner-Morrison syndrome" EXACT EXCLUDE [DOID:6977]
synonym: "watery diarrhea syndrome" EXACT [NCIT:C3488]
synonym: "watery diarrhea with hypokalemic alkalosis" EXACT [NCIT:C3488]
synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" EXACT [NCIT:C3488]
synonym: "WDHA syndrome" EXACT [NCIT:C3488]
synonym: "WDHA syndrome" RELATED [NCIT:C3488]
synonym: "WDHH" EXACT [NCIT:C3488]
xref: DOID:6977 {source="MONDO:equivalentTo"}
xref: ICD9:259.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3488 {source="MONDO:equivalentTo", source="DOID:6977"}
xref: SCTID:39998009 {source="MONDO:equivalentTo", source="DOID:6977", source="MONDO:kboom-pr-0.94/0.85/0.57"}
is_a: MONDO:0001933 {source="DOID:6977", source="linkedlifedata"} ! endocrine pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/237576001
property_value: closeMatch http://identifiers.org/snomedct/70091000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086768
property_value: exactMatch DOID:6977
property_value: exactMatch http://identifiers.org/snomedct/39998009
property_value: exactMatch NCIT:C3488

[Term]
id: MONDO:0004059
name: dentin sensitivity
def: "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli." [NCIT:P378]
synonym: "sensitive dentin" EXACT [DOID:698, MTHICD9_2006:521.8]
xref: DOID:698 {source="MONDO:equivalentTo"}
xref: MESH:D003807 {source="DOID:698", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:13468005 {source="DOID:698", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011432 {source="DOID:698", source="MONDO:equivalentTo"}
is_a: MONDO:0002220 {source="DOID:698", source="linkedlifedata"} ! tooth hard tissue disease
property_value: exactMatch DOID:698
property_value: exactMatch http://identifiers.org/mesh/D003807
property_value: exactMatch http://identifiers.org/snomedct/13468005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011432
property_value: exactMatch NCIT:C50778

[Term]
id: MONDO:0004060
name: peripheral epithelioid sarcoma
def: "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain." [NCIT:P378]
synonym: "conventional epithelioid sarcoma" EXACT [NCIT:C27473]
synonym: "distal-type epithelioid sarcoma" EXACT [NCIT:C27473]
xref: DOID:6988 {source="MONDO:equivalentTo"}
xref: NCIT:C27473 {source="MONDO:equivalentTo", source="DOID:6988", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333306 {source="NCIT:C27473", source="MONDO:equivalentTo", source="DOID:6988"}
is_a: MONDO:0017387 {source="DOID:6988", source="NCIT:C27473"} ! epithelioid sarcoma
property_value: exactMatch DOID:6988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333306
property_value: exactMatch NCIT:C27473

[Term]
id: MONDO:0004061
name: obsolete mitochondrial myopathy
is_obsolete: true
replaced_by: MONDO:0009637

[Term]
id: MONDO:0004062
name: intermediate cell type uveal melanoma
def: "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C7989]
synonym: "Intermediate cell type intraocular melanoma" EXACT [NCIT:C7989]
synonym: "Intermediate cell type uveal melanoma" EXACT [NCIT:C7989]
synonym: "intraocular mixed cell type melanoma" RELATED [DOID:6992]
synonym: "mixed cell type uveal melanoma" EXACT [DOID:6992, NCIT:C7989]
xref: DOID:6992 {source="MONDO:equivalentTo"}
xref: NCIT:C7989 {source="MONDO:equivalentTo", source="DOID:6992"}
xref: UMLS:C0279693 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6992"}
is_a: MONDO:0006486 {source="NCIT:C7989"} ! uveal melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0862911
property_value: exactMatch DOID:6992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279693
property_value: exactMatch NCIT:C7989

[Term]
id: MONDO:0004063
name: intermediate cell type iris melanoma
def: "Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6101]
synonym: "Intermediate cell type iris melanoma" EXACT [NCIT:C6101]
synonym: "intermediate cell type uveal melanoma of iris" EXACT [MONDO:design_pattern]
synonym: "iris intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "iris mixed cell melanoma" RELATED [DOID:6993]
xref: DOID:6993 {source="MONDO:equivalentTo"}
xref: NCIT:C6101 {source="DOID:6993", source="MONDO:equivalentTo"}
xref: UMLS:C1334210 {source="DOID:6993", source="NCIT:C6101", source="MONDO:equivalentTo"}
is_a: MONDO:0004062 {source="DOID:6993", source="MONDO:Redundant", source="MONDOLEX:0004063", source="NCIT:C6101"} ! intermediate cell type uveal melanoma
is_a: MONDO:0004064 {source="DOID:6993", source="MONDO:Redundant", source="MONDOLEX:0004063", source="NCIT:C6101"} ! iris melanoma
property_value: exactMatch DOID:6993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334210
property_value: exactMatch NCIT:C6101

[Term]
id: MONDO:0004064
name: iris melanoma
alt_id: MONDO:0021433
def: "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi." [NCIT:C9088]
synonym: "iris malignant melanoma" EXACT [NCIT:C9088]
synonym: "iris melanoma" EXACT [NCIT:C9088]
synonym: "iris melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant iris melanoma" RELATED [DOID:6994]
synonym: "malignant melanoma of iris" EXACT [NCIT:C9088]
synonym: "malignant melanoma of the iris" EXACT [NCIT:C9088]
synonym: "melanoma (disease) of iris" EXACT []
synonym: "melanoma of iris" EXACT [NCIT:C9088]
synonym: "melanoma of the iris" EXACT [DOID:6994, NCIT:C9088]
xref: DOID:6994 {source="MONDO:equivalentTo"}
xref: NCIT:C9088 {source="DOID:6994", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.84/0.63"}
xref: SCTID:255012009 {source="DOID:6994", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:CN204945 {source="MONDO:equivalentTo"}
is_a: MONDO:0002658 {source="DOID:6994", source="MONDO:Redundant", source="NCIT:C9088", source="linkedlifedata"} ! iris cancer
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C9088"} ! uveal melanoma
property_value: exactMatch DOID:6994
property_value: exactMatch http://identifiers.org/snomedct/255012009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204945
property_value: exactMatch NCIT:C9088

[Term]
id: MONDO:0004065
name: intermediate cell type choroid melanoma
def: "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6100]
synonym: "Intermediate cell type choroid melanoma" EXACT [NCIT:C6100]
synonym: "intermediate cell type uveal melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "mixed cell melanoma of choroid" EXACT [DOID:6996, NCIT:C6100]
synonym: "optic choroid intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
xref: DOID:6996 {source="MONDO:equivalentTo"}
xref: NCIT:C6100 {source="DOID:6996", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.97"}
xref: UMLS:C1334208 {source="DOID:6996", source="NCIT:C6100", source="MONDO:equivalentTo"}
is_a: MONDO:0003878 {source="DOID:6996", source="MONDO:Redundant", source="NCIT:C6100"} ! malignant choroid melanoma
is_a: MONDO:0004062 {source="DOID:6996", source="MONDO:Redundant", source="MONDOLEX:0004065", source="NCIT:C6100"} ! intermediate cell type uveal melanoma
property_value: exactMatch DOID:6996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334208
property_value: exactMatch NCIT:C6100

[Term]
id: MONDO:0004066
name: intermediate cell type ciliary body melanoma
def: "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6118]
synonym: "ciliary body intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "Intermediate cell type ciliary body melanoma" EXACT [NCIT:C6118]
synonym: "intermediate cell type uveal melanoma of ciliary body" EXACT [MONDO:design_pattern]
xref: DOID:6997 {source="MONDO:equivalentTo"}
xref: NCIT:C6118 {source="DOID:6997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334209 {source="DOID:6997", source="MONDO:equivalentTo", source="NCIT:C6118"}
is_a: MONDO:0003912 {source="DOID:6997", source="MONDO:Redundant", source="NCIT:C6118"} ! malignant ciliary body melanoma
is_a: MONDO:0004063 ! intermediate cell type iris melanoma
property_value: exactMatch DOID:6997
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334209
property_value: exactMatch NCIT:C6118

[Term]
id: MONDO:0004067
name: gallbladder mucinous adenocarcinoma
def: "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." [NCIT:C5744]
synonym: "colloid carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "colloid carcinoma of the gallbladder" EXACT [NCIT:C5744]
synonym: "colloidal carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "colloidal carcinoma of the gallbladder" EXACT [DOID:6998, NCIT:C5744]
synonym: "gall bladder mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder colloid carcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder colloidal carcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder mucinous adenocarcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder mucinous carcinoma" RELATED [DOID:6998]
synonym: "mucinous carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "mucinous carcinoma of the gallbladder" EXACT [NCIT:C5744]
xref: DOID:6998 {source="MONDO:equivalentTo"}
xref: NCIT:C5744 {source="DOID:6998", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333750 {source="DOID:6998", source="MONDO:equivalentTo", source="NCIT:C5744"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="MONDOLEX:0004067", source="NCIT:C5744"} ! mucinous adenocarcinoma
is_a: MONDO:0006215 {source="DOID:6998", source="MONDO:Redundant", source="NCIT:C5744"} ! gallbladder adenocarcinoma
property_value: exactMatch DOID:6998
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333750
property_value: exactMatch NCIT:C5744

[Term]
id: MONDO:0004068
name: obsolete disease of anatomical entity
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0004069
name: inborn mitochondrial metabolism disorder
def: "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." [MESH:D028361]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:68380"}
synonym: "mitochondrial disease" EXACT [MONDO:0019055]
synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048]
synonym: "mitochondrial metabolism disease" RELATED [DOID:700]
xref: DOID:700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: GARD:0007048 {source="MONDO:equivalentTo"}
xref: MESH:D028361 {source="DOID:700", source="ORDO:68380/e", source="Orphanet:68380", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:68380 {source="MONDO:equivalentTo"}
is_a: MONDO:0015327 {source="Orphanet:68380"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019243 {source="Orphanet:68380"} ! inborn disorder of energy metabolism
is_a: MONDO:0044970 ! mitochondrial disease
property_value: closeMatch http://identifiers.org/snomedct/240096000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CN552492
property_value: exactMatch DOID:700
property_value: exactMatch http://identifiers.org/mesh/D028361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751651
property_value: exactMatch Orphanet:68380
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders xsd:anyURI {source="GARD:0007048"}

[Term]
id: MONDO:0004070
name: obsolete gemistocytic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016689

[Term]
id: MONDO:0004071
name: childhood cerebral astrocytoma
def: "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." [NCIT:C4347]
subset: gard_rare {source="GARD:0009302"}
synonym: "cerebral astrocytoma" EXACT [NCIT:C4347]
synonym: "cerebral astrocytoma, childhood" RELATED [GARD:0009302]
synonym: "childhood astrocytic tumor of telencephalon" EXACT [MONDO:design_pattern]
synonym: "childhood astrocytoma of cerebrum" EXACT [NCIT:C4347]
synonym: "childhood astrocytoma of the cerebrum" EXACT [NCIT:C4347]
synonym: "pediatric astrocytoma of cerebrum" EXACT [DOID:7007, NCIT:C4347]
synonym: "pediatric astrocytoma of the cerebrum" EXACT [NCIT:C4347]
synonym: "pediatric cerebral astrocytoma" EXACT [NCIT:C4347]
synonym: "telencephalon childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "telencephalon juvenile astrocytoma" EXACT [MONDO:patterns/location]
xref: DOID:7007 {source="MONDO:equivalentTo"}
xref: GARD:0009302 {source="MONDO:equivalentTo"}
xref: NCIT:C4347 {source="DOID:7007", source="MONDO:equivalentTo"}
xref: UMLS:C0338070 {source="DOID:7007", source="MONDO:equivalentTo", source="NCIT:C4347"}
is_a: MONDO:0002505 {source="DOID:7007", source="MONDO:Redundant", source="MONDOLEX:0004071", source="NCIT:C4347/inferred"} ! childhood astrocytic tumor
is_a: MONDO:0002731 {source="DOID:7007", source="MONDO:Entailed"} ! cerebral hemisphere cancer
is_a: MONDO:0005499 {source="DOID:7007", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0021633 ! cerebral astrocytoma
property_value: exactMatch DOID:7007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338070
property_value: exactMatch NCIT:C4347
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood xsd:anyURI {source="GARD:0009302"}

[Term]
id: MONDO:0004072
name: obsolete protoplasmic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016687

[Term]
id: MONDO:0004073
name: obsolete dentin dysplasia
is_obsolete: true
replaced_by: MONDO:0015613

[Term]
id: MONDO:0004074
name: ovarian mucinous cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40041]
synonym: "ovarian mucinous cystadenofibroma" EXACT [NCIT:C40041]
xref: DOID:7013 {source="MONDO:equivalentTo"}
xref: NCIT:C40041 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7013"}
xref: UMLS:C1518725 {source="MONDO:equivalentTo", source="NCIT:C40041", source="DOID:7013"}
is_a: MONDO:0003886 {source="MONDOLEX:0004074", source="NCIT:C40041"} ! mucinous cystadenofibroma
is_a: MONDO:0003887 {source="DOID:7013", source="NCIT:C40041"} ! ovarian mucinous adenofibroma
property_value: exactMatch DOID:7013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518725
property_value: exactMatch NCIT:C40041

[Term]
id: MONDO:0004075
name: infiltrating lipoma
def: "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." [NCIT:P378]
synonym: "intramuscular lipoma" EXACT [DOID:7014, NCIT:C7450]
synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [DOID:7014]
xref: DOID:7014 {source="MONDO:equivalentTo"}
xref: NCIT:C7451 {source="MONDO:kboom-pr-0.91/0.79/0.42", source="MONDO:equivalentTo", source="DOID:7014"}
xref: UMLS:C0334473 {source="MONDO:equivalentTo", source="DOID:7014"}
is_a: MONDO:0005106 {source="DOID:7014", source="MONDOLEX:0004075", source="NCIT:C7451/inferred"} ! lipoma
property_value: closeMatch http://identifiers.org/snomedct/24045002
property_value: closeMatch NCIT:C7450
property_value: exactMatch DOID:7014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334473
property_value: exactMatch NCIT:C7451

[Term]
id: MONDO:0004076
name: tendon sheath lipoma
def: "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath." [NCIT:C6499]
synonym: "lipoma of tendon sheath" EXACT [NCIT:C6499]
synonym: "lipoma of the tendon sheath" EXACT [DOID:7016, NCIT:C6499]
synonym: "tendon sheath lipoma" EXACT [MONDO:patterns/location]
xref: DOID:7016 {source="MONDO:equivalentTo"}
xref: NCIT:C6499 {source="DOID:7016", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336703 {source="DOID:7016", source="MONDO:equivalentTo", source="NCIT:C6499"}
is_a: MONDO:0005106 {source="DOID:7016", source="MONDO:Redundant", source="MONDOLEX:0004076", source="NCIT:C6499/inferred"} ! lipoma
is_a: MONDO:0024715 ! benign synovial neoplasm
is_a: MONDO:0024876 ! tendon sheath disorder
property_value: exactMatch DOID:7016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336703
property_value: exactMatch NCIT:C6499

[Term]
id: MONDO:0004077
name: lumbosacral lipoma
def: "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." [NCIT:C6500]
synonym: "lipoma of sacral region of vertebral column" EXACT []
synonym: "sacral region of vertebral column lipoma" EXACT [MONDO:patterns/location]
xref: DOID:7017 {source="MONDO:equivalentTo"}
xref: NCIT:C6500 {source="DOID:7017", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334438 {source="DOID:7017", source="MONDO:equivalentTo", source="NCIT:C6500"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0005106 ! lipoma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:7017"} ! bone benign neoplasm
property_value: exactMatch DOID:7017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334438
property_value: exactMatch NCIT:C6500

[Term]
id: MONDO:0004078
name: mucinous intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma that produces abundant mucin." [NCIT:P378]
synonym: "mucin-producing intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618]
synonym: "mucinous intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618]
xref: DOID:7024 {source="MONDO:equivalentTo"}
xref: NCIT:C41618 {source="MONDO:equivalentTo", source="DOID:7024", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1513718 {source="MONDO:equivalentTo", source="NCIT:C41618", source="DOID:7024"}
is_a: MONDO:0002739 ! extrahepatic bile duct mucinous adenocarcinoma
is_a: MONDO:0003210 {source="DOID:7024", source="MONDOLEX:0004078", source="NCIT:C41618"} ! intrahepatic cholangiocarcinoma
property_value: exactMatch DOID:7024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513718
property_value: exactMatch NCIT:C41618

[Term]
id: MONDO:0004079
name: lung mucous gland adenoma
def: "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus." [NCIT:C5664]
synonym: "adenoma of bronchial mucous gland" EXACT [NCIT:C5664]
synonym: "adenoma of bronchial mucus gland" RELATED [DOID:7030]
synonym: "adenoma of the bronchial mucous gland" EXACT [NCIT:C5664]
synonym: "adenoma of the bronchial mucus gland" EXACT [DOID:7030, NCIT:C5664]
synonym: "bronchial cystadenoma" EXACT [NCIT:C5664]
synonym: "bronchial mucus gland adenoma" RELATED [DOID:7030]
synonym: "lung mucous gland adenoma" EXACT [NCIT:C5664]
synonym: "lung polyadenoma" EXACT [NCIT:C5664]
xref: DOID:7030 {source="MONDO:equivalentTo"}
xref: NCIT:C5664 {source="MONDO:equivalentTo", source="DOID:7030"}
xref: UMLS:C1332640 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5664", source="DOID:7030"}
is_a: MONDO:0003427 {source="DOID:7030"} ! bronchus adenoma
property_value: exactMatch DOID:7030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332640
property_value: exactMatch NCIT:C5664

[Term]
id: MONDO:0004080
name: glottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom." [NCIT:C8186]
synonym: "epidermoid carcinoma of glottis" EXACT [NCIT:C8186]
synonym: "epidermoid carcinoma of the glottis" EXACT [DOID:7031, NCIT:C8186]
synonym: "glottic epidermoid carcinoma" EXACT [NCIT:C8186]
synonym: "glottic squamous cell carcinoma" EXACT [NCIT:C8186]
synonym: "glottis epidermoid carcinoma" EXACT [NCIT:C8186]
synonym: "glottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8186]
synonym: "squamous cell carcinoma of glottis" EXACT [DOID:7031, NCIT:C8186]
synonym: "squamous cell carcinoma of the glottis" EXACT [NCIT:C8186]
xref: DOID:7031 {source="MONDO:equivalentTo"}
xref: NCIT:C8186 {source="MONDO:equivalentTo", source="DOID:7031"}
xref: UMLS:C0280325 {source="MONDO:equivalentTo", source="DOID:7031", source="NCIT:C8186"}
is_a: MONDO:0002355 {source="DOID:7031", source="MONDO:Redundant", source="MONDOLEX:0004080", source="NCIT:C8186"} ! glottis carcinoma
is_a: MONDO:0005595 {source="MONDO:Redundant", source="NCIT:C8186"} ! laryngeal squamous cell carcinoma
property_value: exactMatch DOID:7031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280325
property_value: exactMatch NCIT:C8186

[Term]
id: MONDO:0004081
name: extrahepatic bile duct clear cell adenocarcinoma
def: "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." [NCIT:C5775]
synonym: "bile duct clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5775]
synonym: "bile duct clear cell carcinoma" EXACT [DOID:7032, NCIT:C5775]
synonym: "clear cell adenocarcinoma of bile duct" EXACT [NCIT:C5775]
synonym: "clear cell adenocarcinoma of the bile duct" EXACT [NCIT:C5775]
synonym: "clear cell bile duct adenocarcinoma" EXACT [NCIT:C5775]
synonym: "extrahepatic bile duct clear cell adenocarcinoma" EXACT [NCIT:C5775]
xref: DOID:7032 {source="MONDO:equivalentTo"}
xref: NCIT:C5775 {source="MONDO:equivalentTo", source="DOID:7032"}
xref: UMLS:C0861855 {source="MONDO:equivalentTo", source="NCIT:C5775", source="DOID:7032"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5775"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0005004 {source="DOID:7032", source="MONDO:Redundant", source="MONDOLEX:0004081", source="NCIT:C5775"} ! clear cell adenocarcinoma
property_value: exactMatch DOID:7032
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0861855
property_value: exactMatch NCIT:C5775

[Term]
id: MONDO:0004082
name: childhood immature teratoma of ovary
def: "An immature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood immature ovarian teratoma" EXACT [MONDO:design_pattern]
synonym: "childhood immature teratoma of the ovary" EXACT [NCIT:C6547]
synonym: "childhood ovarian immature teratoma" EXACT [NCIT:C6547]
synonym: "immature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric immature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric immature ovarian teratoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric immature teratoma of ovary" EXACT [DOID:7037, NCIT:C6547]
synonym: "pediatric immature teratoma of the ovary" EXACT [NCIT:C6547]
synonym: "pediatric ovarian immature teratoma" EXACT [NCIT:C6547]
xref: DOID:7037 {source="MONDO:equivalentTo"}
xref: NCIT:C6547 {source="DOID:7037", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332990 {source="DOID:7037", source="MONDO:equivalentTo", source="NCIT:C6547"}
is_a: MONDO:0003819 {source="MONDO:Redundant", source="NCIT:C6547"} ! childhood teratoma of the ovary
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0018369 {source="DOID:7037", source="MONDO:Redundant", source="MONDOLEX:0004082", source="NCIT:C6547"} ! immature ovarian teratoma
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
property_value: exactMatch DOID:7037
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332990
property_value: exactMatch NCIT:C6547

[Term]
id: MONDO:0004083
name: Borst-Jadassohn intraepidermal carcinoma
def: "A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells." [NCIT:P378]
synonym: "Bowen's disease, clonal" EXACT [DOID:7039]
synonym: "intraepidermal epithelioma of Jadassohn" EXACT [DOID:7039, NCIT:C4110]
xref: DOID:7039 {source="MONDO:equivalentTo"}
xref: EFO:1001841 {source="MONDO:equivalentTo"}
xref: ICDO:8096/0 {source="NCIT:C4110"}
xref: NCIT:C4110 {source="DOID:7039", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:403886007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:7039", source="MONDO:equivalentTo"}
xref: UMLS:C0334260 {source="MEDGEN:kboom-pr97-c98", source="DOID:7039", source="MONDO:equivalentTo"}
xref: UMLS:C2937231 {source="MEDGEN:kboom-pr98-c98", source="NCIT:C4110", source="MONDO:equivalentTo"}
is_a: MONDO:0002656 {source="DOID:7039"} ! skin carcinoma
property_value: closeMatch http://identifiers.org/snomedct/274897005
property_value: exactMatch DOID:7039
property_value: exactMatch http://identifiers.org/snomedct/403886007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937231
property_value: exactMatch NCIT:C4110

[Term]
id: MONDO:0004084
name: obsolete uveal epithelioid cell melanoma
is_obsolete: true
replaced_by: MONDO:0006200

[Term]
id: MONDO:0004085
name: choroid epithelioid cell melanoma
def: "A epithelioid cell melanoma that involves the optic choroid." [MONDO:patterns/location]
synonym: "choroid epithelioid cell melanoma" EXACT [NCIT:C6102]
synonym: "choroidal epithelioid cell melanoma" EXACT [DOID:7041, NCIT:C6102]
synonym: "epithelioid cell melanoma of choroid" EXACT [NCIT:C6102]
synonym: "epithelioid cell melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "epithelioid cell melanoma of the choroid" EXACT [NCIT:C6102]
synonym: "optic choroid epithelioid cell melanoma" EXACT [MONDO:patterns/location]
xref: DOID:7041 {source="MONDO:equivalentTo"}
xref: NCIT:C6102 {source="MONDO:equivalentTo", source="DOID:7041"}
xref: UMLS:C1333024 {source="NCIT:C6102", source="MONDO:equivalentTo", source="DOID:7041"}
is_a: MONDO:0003878 {source="DOID:7041", source="MONDO:Redundant", source="NCIT:C6102"} ! malignant choroid melanoma
is_a: MONDO:0006200 {source="MONDO:Redundant", source="NCIT:C6102"} ! epithelioid cell uveal melanoma
property_value: exactMatch DOID:7041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333024
property_value: exactMatch NCIT:C6102

[Term]
id: MONDO:0004086
name: ciliary body epithelioid cell melanoma
def: "A epithelioid cell melanoma that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body epithelioid cell melanoma" EXACT [MONDO:patterns/location]
synonym: "epithelioid cell melanoma of ciliary body" EXACT [NCIT:C6119]
synonym: "epithelioid cell melanoma of the ciliary body" EXACT [NCIT:C6119]
xref: DOID:7042 {source="MONDO:equivalentTo"}
xref: NCIT:C6119 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7042"}
xref: UMLS:C1333050 {source="MONDO:equivalentTo", source="NCIT:C6119", source="DOID:7042"}
is_a: MONDO:0003912 {source="DOID:7042", source="MONDO:Redundant", source="NCIT:C6119"} ! malignant ciliary body melanoma
is_a: MONDO:0006200 {source="DOID:7042", source="MONDO:Redundant", source="NCIT:C6119"} ! epithelioid cell uveal melanoma
property_value: exactMatch DOID:7042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333050
property_value: exactMatch NCIT:C6119

[Term]
id: MONDO:0004087
name: basaloid large cell lung carcinoma
def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." [NCIT:C7266]
synonym: "basaloid large cell carcinoma of the lung" RELATED [ONCOTREE:BLCLC]
synonym: "basaloid large cell lung carcinoma" EXACT [NCIT:C7266]
synonym: "basaloid lung carcinoma" RELATED [DOID:7045]
xref: DOID:7045 {source="MONDO:equivalentTo"}
xref: NCIT:C7266 {source="MONDO:equivalentTo", source="DOID:7045"}
xref: ONCOTREE:BLCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1332463 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7266", source="MONDO:equivalentTo", source="DOID:7045"}
is_a: MONDO:0003050 {source="MONDO:Redundant", source="MONDOLEX:0004087", source="NCIT:C7266", source="ONCOTREE:BLCLC"} ! lung large cell carcinoma
is_a: MONDO:0006102 {source="MONDO:Redundant", source="NCIT:C7266"} ! basaloid carcinoma
intersection_of: MONDO:0003050 {source="NCIT:C7266"} ! lung large cell carcinoma
intersection_of: MONDO:0006102 {source="NCIT:C7266"} ! basaloid carcinoma
relationship: excluded_subClassOf MONDO:0005097 {source="DOID:7045"} ! squamous cell lung carcinoma
property_value: exactMatch DOID:7045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332463
property_value: exactMatch NCIT:C7266

[Term]
id: MONDO:0004088
name: cervical basaloid carcinoma
def: "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm." [NCIT:C40189]
synonym: "cervical basaloid carcinoma" EXACT [NCIT:C40189]
synonym: "cervical basaloid squamous cell carcinoma" EXACT [NCIT:C40189]
xref: DOID:7046 {source="MONDO:equivalentTo"}
xref: NCIT:C40189 {source="MONDO:equivalentTo", source="DOID:7046"}
xref: UMLS:C1511063 {source="MONDO:equivalentTo", source="NCIT:C40189", source="DOID:7046"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="MONDOLEX:0004088", source="NCIT:C40189"} ! basaloid squamous cell carcinoma
is_a: MONDO:0006143 {source="DOID:7046", source="MONDO:Redundant", source="NCIT:C40189"} ! cervical squamous cell carcinoma
property_value: exactMatch DOID:7046
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511063
property_value: exactMatch NCIT:C40189

[Term]
id: MONDO:0004089
name: basaloid carcinoma of the penis
def: "An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present." [NCIT:C6980]
synonym: "basaloid carcinoma of penis" EXACT [NCIT:C6980]
synonym: "basaloid carcinoma of the penis" EXACT [NCIT:C6980]
synonym: "basaloid penile squamous cell carcinoma" EXACT [NCIT:C6980]
synonym: "basaloid squamous cell carcinoma of penis" EXACT [NCIT:C6980]
synonym: "basaloid squamous cell carcinoma of the penis" EXACT [NCIT:C6980]
synonym: "BPSCC" RELATED [ONCOTREE:BPSCC]
synonym: "penis basaloid carcinoma" RELATED [DOID:7047]
synonym: "penis basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of penis, basaloid type" EXACT [DOID:7047, NCIT:C6980]
synonym: "squamous cell carcinoma of the penis, basaloid type" EXACT [NCIT:C6980]
xref: DOID:7047 {source="MONDO:equivalentTo"}
xref: NCIT:C6980 {source="MONDO:equivalentTo", source="DOID:7047"}
xref: ONCOTREE:BPSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1332462 {source="NCIT:C6980", source="MONDO:equivalentTo", source="DOID:7047"}
is_a: MONDO:0003486 {source="DOID:7047", source="MONDO:Redundant", source="MONDOLEX:0004089", source="NCIT:C6980"} ! basaloid squamous cell carcinoma
is_a: MONDO:0020656 {source="NCIT:C6980"} ! human papillomavirus-related penile squamous cell carcinoma
property_value: exactMatch DOID:7047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332462
property_value: exactMatch NCIT:C6980

[Term]
id: MONDO:0004090
name: vulvar basaloid squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm." [NCIT:P378]
synonym: "vulvar basaloid carcinoma" EXACT [DOID:7048, NCIT:C40286]
synonym: "vulvar basaloid squamous cell carcinoma" EXACT [NCIT:C40286]
xref: DOID:7048 {source="MONDO:equivalentTo"}
xref: NCIT:C40286 {source="DOID:7048", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2211850 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40286"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="MONDOLEX:0004090", source="NCIT:C40286"} ! basaloid squamous cell carcinoma
is_a: MONDO:0024609 {source="DOID:7048", source="MONDO:Redundant", source="NCIT:C40286"} ! vulvar squamous cell carcinoma
property_value: exactMatch DOID:7048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2211850
property_value: exactMatch NCIT:C40286

[Term]
id: MONDO:0004091
name: skin basaloid carcinoma
def: "A basaloid squamous cell carcinoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "basaloid skin squamous cell carcinoma" EXACT [NCIT:C27543]
synonym: "basaloid squamous cell skin carcinoma" RELATED [DOID:7049]
synonym: "skin basaloid carcinoma" EXACT [NCIT:C27543]
synonym: "skin basaloid squamous cell carcinoma" EXACT [DOID:7049, NCIT:C27543]
synonym: "zone of skin basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7049 {source="MONDO:equivalentTo"}
xref: NCIT:C27543 {source="DOID:7049", source="MONDO:equivalentTo"}
xref: UMLS:C1335973 {source="DOID:7049", source="NCIT:C27543", source="MONDO:equivalentTo"}
is_a: MONDO:0002529 {source="DOID:7049", source="MONDO:Redundant", source="MONDOLEX:0004091", source="NCIT:C27543"} ! skin squamous cell carcinoma
is_a: MONDO:0003486 {source="DOID:7049", source="MONDO:Redundant", source="MONDOLEX:0004091", source="NCIT:C27543"} ! basaloid squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C27543"} ! keratinizing squamous cell carcinoma
property_value: exactMatch DOID:7049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335973
property_value: exactMatch NCIT:C27543

[Term]
id: MONDO:0004092
name: thymic basaloid carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases." [NCIT:C6456]
synonym: "basaloid carcinoma of the Thymus" EXACT [DOID:7050, NCIT:C6456]
synonym: "basaloid carcinoma of Thymus" EXACT [NCIT:C6456]
synonym: "thymic basaloid carcinoma" EXACT [NCIT:C6456]
synonym: "Thymus basaloid carcinoma" EXACT [NCIT:C6456]
synonym: "thymus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7050 {source="MONDO:equivalentTo"}
xref: NCIT:C6456 {source="DOID:7050", source="MONDO:equivalentTo"}
xref: UMLS:C1332464 {source="DOID:7050", source="MONDO:equivalentTo", source="NCIT:C6456"}
is_a: MONDO:0003486 {source="DOID:7050", source="MONDO:Redundant", source="MONDOLEX:0004092", source="NCIT:C6456"} ! basaloid squamous cell carcinoma
is_a: MONDO:0003493 {source="DOID:7050", source="MONDO:Redundant", source="NCIT:C6456"} ! thymus squamous cell carcinoma
property_value: exactMatch DOID:7050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332464
property_value: exactMatch NCIT:C6456

[Term]
id: MONDO:0004093
name: esophageal basaloid carcinoma
def: "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" [NCIT:C7032]
synonym: "basaloid squamous carcinoma of esophagus" EXACT [DOID:7051, NCIT:C7032]
synonym: "basaloid squamous carcinoma of the esophagus" RELATED [NCIT:C7032]
synonym: "esophageal basaloid cancer" EXACT [NCIT:C7032]
synonym: "esophageal basaloid carcinoma" EXACT [NCIT:C7032]
synonym: "esophageal basaloid squamous cell carcinoma" RELATED [NCIT:C7032]
xref: DOID:7051 {source="MONDO:equivalentTo"}
xref: NCIT:C7032 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"}
xref: UMLS:C1333443 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="MONDOLEX:0004093", source="NCIT:C7032"} ! basaloid squamous cell carcinoma
is_a: MONDO:0005580 {source="DOID:7051", source="MONDO:Redundant", source="NCIT:C7032"} ! esophageal squamous cell carcinoma
intersection_of: MONDO:0003486 {source="NCIT:C7032"} ! basaloid squamous cell carcinoma
intersection_of: MONDO:0005580 {source="NCIT:C7032"} ! esophageal squamous cell carcinoma
property_value: exactMatch DOID:7051
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333443
property_value: exactMatch NCIT:C7032

[Term]
id: MONDO:0004094
name: multiple skull base meningioma
def: "Multiple meningiomas that affect the skull base." [NCIT:C5279]
synonym: "multiple skull base meningiomas" RELATED [NCIT:C5279]
xref: DOID:7054 {source="MONDO:equivalentTo"}
xref: NCIT:C5279 {source="MONDO:equivalentTo", source="DOID:7054"}
xref: UMLS:C1334829 {source="MONDO:equivalentTo", source="NCIT:C5279", source="DOID:7054"}
is_a: MONDO:0002998 {source="DOID:7054", source="MONDOLEX:0004094", source="NCIT:C5279"} ! skull base meningioma
property_value: exactMatch DOID:7054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334829
property_value: exactMatch NCIT:C5279

[Term]
id: MONDO:0004095
name: B-cell neoplasm
def: "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." [MESH:D016393]
subset: gard_rare {source="GARD:0005877"}
synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707, NCIT:C27907]
synonym: "B-cell lymphoma" RELATED [DOID:707]
synonym: "B-cell neoplasm" EXACT [NCIT:C27907]
synonym: "lymphoma, B-cell" RELATED [GARD:0005877]
xref: DOID:707 {source="MONDO:equivalentTo"}
xref: GARD:0005877 {source="MONDO:equivalentTo"}
xref: MESH:D016393 {source="MONDO:equivalentTo", source="DOID:707", source="MONDO:ontobio"}
xref: NCIT:C27907 {source="MONDO:equivalentTo", source="DOID:707", source="MONDO:kboom-pr-0.92/0.75/1.22"}
is_a: MONDO:0004805 {source="DOID:707", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disease
is_a: MONDO:0005062 {source="DOID:707/inferred", source="MESH:D016393/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! lymphoma
property_value: closeMatch http://identifiers.org/snomedct/109979007
property_value: closeMatch http://identifiers.org/snomedct/1929004
property_value: closeMatch http://identifiers.org/snomedct/413616009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079731
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332362
property_value: exactMatch DOID:707
property_value: exactMatch http://identifiers.org/mesh/D016393
property_value: exactMatch NCIT:C27907
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma xsd:anyURI {source="GARD:0005877"}

[Term]
id: MONDO:0004096
name: spinal cord dermoid cyst
def: "A dermoid cyst that involves the spinal cord." [MONDO:patterns/location]
synonym: "dermoid cyst of spinal cord" EXACT [NCIT:C6808]
synonym: "dermoid cyst of the spinal cord" EXACT [NCIT:C6808]
synonym: "spinal cord dermoid" EXACT [DOID:7071, NCIT:C6808]
synonym: "spinal cord dermoid cyst" EXACT [MONDO:patterns/location]
xref: DOID:7071 {source="MONDO:equivalentTo"}
xref: NCIT:C6808 {source="MONDO:equivalentTo", source="DOID:7071", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333278 {source="MONDO:equivalentTo", source="DOID:7071"}
is_a: MONDO:0002378 {source="DOID:7071", source="MONDO:Redundant", source="MONDOLEX:0004096", source="NCIT:C6808/inferred"} ! dermoid cyst
is_a: MONDO:0002718 {source="DOID:7071", source="MONDO:Redundant", source="NCIT:C6808/inferred"} ! central nervous system teratoma
is_a: MONDO:0021234 ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:7071"} ! spinal cord cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349607
property_value: exactMatch DOID:7071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333278
property_value: exactMatch NCIT:C6808

[Term]
id: MONDO:0004097
name: obsolete lipid-rich breast carcinoma
is_obsolete: true
replaced_by: MONDO:0021090

[Term]
id: MONDO:0004098
name: malignant melanocytic peripheral nerve sheath tumor of mediastinum
def: "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin." [NCIT:P378]
synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C6630]
synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum" EXACT [MONDO:design_pattern]
synonym: "malignant melanocytic peripheral nerve sheath tumor of mediastinum" EXACT [NCIT:C6630]
synonym: "malignant melanotic peripheral nerve sheath tumor of the mediastinum" EXACT [NCIT:C6630]
synonym: "mediastinal melanocytic MPNST" EXACT [DOID:7077, NCIT:C6630]
synonym: "mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:7077 {source="MONDO:equivalentTo"}
xref: NCIT:C6630 {source="MONDO:equivalentTo", source="DOID:7077", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334600 {source="NCIT:C6630", source="MONDO:equivalentTo", source="DOID:7077"}
is_a: MONDO:0002852 ! mediastinum sarcoma
is_a: MONDO:0003863 {source="MONDO:Redundant", source="MONDOLEX:0004098", source="NCIT:C6630"} ! malignant melanocytic neoplasm of the peripheral nerve sheath
property_value: exactMatch DOID:7077
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334600
property_value: exactMatch NCIT:C6630

[Term]
id: MONDO:0004099
name: adult cystic teratoma
def: "A cystic teratoma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult cystic teratoma" EXACT [NCIT:C9012]
synonym: "cystic teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7079 {source="MONDO:equivalentTo"}
xref: NCIT:C9012 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7079"}
xref: UMLS:C1368888 {source="MONDO:equivalentTo", source="DOID:7079"}
is_a: MONDO:0002379 {source="DOID:7079", source="MONDO:Redundant", source="MONDOLEX:0004099", source="NCIT:C9012"} ! cystic teratoma
is_a: MONDO:0003516 {source="MONDO:Redundant", source="MONDOLEX:0004099", source="NCIT:C9012"} ! adult teratoma
property_value: closeMatch http://identifiers.org/snomedct/42717009
property_value: exactMatch DOID:7079
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368888
property_value: exactMatch NCIT:C9012

[Term]
id: MONDO:0004100
name: lung mixed small cell and squamous cell carcinoma
def: "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." [NCIT:P378]
synonym: "combined small and large cell lung cancer" EXACT EXCLUDE [DOID:7081]
synonym: "combined small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423]
synonym: "mixed small cell and squamous cell carcinoma of lung" RELATED [DOID:7081]
synonym: "mixed small cell and squamous cell carcinoma of the lung" EXACT [NCIT:C9423]
synonym: "small cell and large cell carcinoma of the lung" EXACT [DOID:7081, NCIT:C9424]
synonym: "small cell and squamous cell carcinoma of lung" EXACT [NCIT:C9423]
synonym: "small cell and squamous cell carcinoma of the lung" EXACT [DOID:7081, NCIT:C9423]
synonym: "small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423]
xref: DOID:7081 {source="MONDO:equivalentTo"}
xref: NCIT:C9423 {source="DOID:7081", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.77/1.05"}
xref: UMLS:C1334788 {source="DOID:7081", source="NCIT:C9423", source="MONDO:equivalentTo"}
is_a: MONDO:0005454 {source="DOID:7081", source="NCIT:C9423/inferred"} ! lung neuroendocrine neoplasm
property_value: exactMatch DOID:7081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334788
property_value: exactMatch NCIT:C9423

[Term]
id: MONDO:0004101
name: multicentric papillary thyroid carcinoma
def: "A papillary carcinoma arising from the thyroid gland from multiple foci." [NCIT:C37304]
synonym: "multicentric papillary thyroid carcinoma" EXACT [NCIT:C37304]
synonym: "multicentric papillary thyroid gland carcinoma" EXACT [NCIT:C37304]
synonym: "multicentric thyroid gland papillary carcinoma" EXACT [NCIT:C37304]
xref: DOID:7086 {source="MONDO:equivalentTo"}
xref: NCIT:C37304 {source="MONDO:kboom-pr-1.00/0.91/29.59", source="MONDO:equivalentTo", source="DOID:7086"}
xref: UMLS:C1334817 {source="MONDO:equivalentTo", source="NCIT:C37304", source="DOID:7086"}
is_a: MONDO:0005075 {source="DOID:7086", source="NCIT:C37304"} ! thyroid gland papillary carcinoma
property_value: exactMatch DOID:7086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334817
property_value: exactMatch NCIT:C37304

[Term]
id: MONDO:0004102
name: columnar cell variant thyroid gland papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." [NCIT:C35830]
synonym: "columnar cell variant papillary carcinoma" EXACT [NCIT:C35830]
synonym: "columnar cell variant papillary thyroid gland carcinoma" EXACT [NCIT:C35830]
synonym: "columnar cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35830]
xref: DOID:7088 {source="MONDO:equivalentTo"}
xref: ICDO:8344/3 {source="NCIT:C35830"}
xref: NCIT:C35830 {source="MONDO:kboom-pr-1.00/0.91/29.59", source="MONDO:equivalentTo", source="DOID:7088"}
xref: UMLS:C1333120 {source="MONDO:equivalentTo", source="DOID:7088"}
is_a: MONDO:0005075 {source="DOID:7088", source="NCIT:C35830"} ! thyroid gland papillary carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266054
property_value: exactMatch DOID:7088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333120
property_value: exactMatch NCIT:C35830

[Term]
id: MONDO:0004103
name: tall cell variant thyroid gland papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present." [NCIT:C35558]
synonym: "tall cell variant papillary carcinoma" EXACT [NCIT:C35558]
synonym: "tall cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35558]
xref: DOID:7089 {source="MONDO:equivalentTo"}
xref: NCIT:C35558 {source="MONDO:equivalentTo", source="DOID:7089"}
xref: UMLS:C1336695 {source="MONDO:equivalentTo", source="DOID:7089", source="NCIT:C35558"}
is_a: MONDO:0005075 {source="DOID:7089", source="NCIT:C35558"} ! thyroid gland papillary carcinoma
property_value: exactMatch DOID:7089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336695
property_value: exactMatch NCIT:C35558

[Term]
id: MONDO:0004104
name: splenic manifestation of hairy cell leukemia
def: "A hairy cell leukemia that involves the spleen." [MONDO:patterns/location]
synonym: "hairy cell leukemia of spleen" EXACT [DOID:709]
synonym: "spleen hairy cell leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "splenic manifestation of hairy cell leukemia" EXACT [NCIT:C7301]
xref: DOID:709 {source="MONDO:equivalentTo"}
xref: ICD9:202.47 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7301 {source="MONDO:equivalentTo", source="DOID:709", source="exact-label-match"}
xref: SCTID:93151007 {source="MONDO:equivalentTo", source="DOID:709", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336064 {source="NCIT:C7301", source="MONDO:equivalentTo", source="DOID:709"}
is_a: MONDO:0004107 {source="DOID:709", source="MONDO:Redundant", source="NCIT:C7301"} ! splenic manifestation of leukemia
is_a: MONDO:0004699 ! gastrointestinal lymphoma
is_a: MONDO:0017814 ! primary bone lymphoma
is_a: MONDO:0018935 {source="MONDO:Redundant", source="NCIT:C7301", source="linkedlifedata"} ! hairy cell leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153832
property_value: exactMatch DOID:709
property_value: exactMatch http://identifiers.org/snomedct/93151007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336064
property_value: exactMatch NCIT:C7301

[Term]
id: MONDO:0004105
name: childhood epithelioid sarcoma
def: "An epithelioid sarcoma occurring in childhood." [NCIT:C8095]
synonym: "childhood epithelioid sarcoma" EXACT [NCIT:C8095]
synonym: "epithelioid sarcoma" EXACT [NCIT:C8095]
synonym: "epithelioid sarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric epithelioid sarcoma" EXACT [MONDO:patterns/childhood, NCIT:C8095]
synonym: "pediatric epithelioid sarcoma" RELATED [MONDO:patterns/childhood]
xref: DOID:7095 {source="MONDO:equivalentTo"}
xref: NCIT:C8095 {source="MONDO:equivalentTo", source="DOID:7095"}
xref: UMLS:C0279989 {source="MONDO:equivalentTo", source="DOID:7095", source="NCIT:C8095"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0017387 {source="DOID:7095", source="MONDO:Redundant", source="NCIT:C8095"} ! epithelioid sarcoma
property_value: exactMatch DOID:7095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279989
property_value: exactMatch NCIT:C8095

[Term]
id: MONDO:0004106
name: testicular yolk sac tumor, macrocystic pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." [NCIT:C39924]
synonym: "macrocystic pattern testicular yolk sac tumor" RELATED [DOID:7097]
synonym: "testicular yolk sac tumor, macrocystic pattern" EXACT [NCIT:C39924]
xref: DOID:7097 {source="MONDO:equivalentTo"}
xref: NCIT:C39924 {source="MONDO:equivalentTo", source="NCIT:C39924", source="DOID:7097"}
xref: UMLS:C1515307 {source="MONDO:equivalentTo", source="NCIT:C39924", source="DOID:7097"}
is_a: MONDO:0003402 {source="DOID:7097", source="MONDOLEX:0004106", source="NCIT:C39924"} ! testicular yolk sac tumor
property_value: exactMatch DOID:7097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515307
property_value: exactMatch NCIT:C39924

[Term]
id: MONDO:0004107
name: splenic manifestation of leukemia
def: "A leukemia (disease) that involves the spleen." [MONDO:patterns/location]
synonym: "leukemia (disease) of spleen" EXACT []
synonym: "spleen leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "splenic leukemia" RELATED [DOID:710]
synonym: "splenic manifestation of leukemia" EXACT [NCIT:C7296]
xref: DOID:710 {source="MONDO:equivalentTo"}
xref: NCIT:C7296 {source="DOID:710", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336065 {source="DOID:710", source="NCIT:C7296", source="MONDO:equivalentTo"}
is_a: MONDO:0005059 {source="MONDO:Redundant", source="NCIT:C7296"} ! leukemia (disease)
is_a: MONDO:0005966 {source="DOID:710", source="MONDO:Entailed", source="NCIT:C7296"} ! spleen cancer
is_a: MONDO:0021138 ! bone marrow cancer
property_value: exactMatch DOID:710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336065
property_value: exactMatch NCIT:C7296

[Term]
id: MONDO:0004108
name: diaphragma sellae meningioma
def: "A meningioma that affects the diaphragma sellae." [NCIT:C5283]
synonym: "diaphragm sellae meningioma" EXACT [NCIT:C5283]
synonym: "diaphragma sellae meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of diaphragma sellae" EXACT []
synonym: "meningioma of diaphragm sellae" EXACT [DOID:7103, NCIT:C5283]
synonym: "meningioma of Diaphragma sellae" EXACT [NCIT:C5283]
synonym: "meningioma of the diaphragm sellae" EXACT [NCIT:C5283]
synonym: "meningioma of the Diaphragma sellae" EXACT [NCIT:C5283]
xref: DOID:7103 {source="MONDO:equivalentTo"}
xref: NCIT:C5283 {source="DOID:7103", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333283 {source="DOID:7103", source="NCIT:C5283", source="MONDO:equivalentTo"}
is_a: MONDO:0002720 {source="DOID:7103", source="NCIT:C5283"} ! sella turcica neoplasm
is_a: MONDO:0002998 {source="DOID:7103", source="MONDO:Redundant", source="NCIT:C5283"} ! skull base meningioma
property_value: exactMatch DOID:7103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333283
property_value: exactMatch NCIT:C5283

[Term]
id: MONDO:0004109
name: epiglottis neoplasm
alt_id: MONDO:0021347
def: "A benign or malignant neoplasm that affects the epiglottis." [NCIT:P378]
synonym: "epiglottic neoplasm" EXACT [NCIT:C4933]
synonym: "epiglottic tumor" EXACT [DOID:7105, NCIT:C4933]
synonym: "epiglottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Epiglottis tumor" EXACT [NCIT:C4933]
synonym: "epiglottis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Epiglottis" EXACT [NCIT:C4933]
synonym: "neoplasm of epiglottis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Epiglottis" EXACT [NCIT:C4933]
synonym: "tumor of Epiglottis" EXACT [NCIT:C4933]
synonym: "tumor of epiglottis" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Epiglottis" EXACT [NCIT:C4933]
xref: DOID:7105 {source="MONDO:equivalentTo"}
xref: NCIT:C4933 {source="DOID:7105", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:126699008 {source="DOID:7105", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1290353 {source="DOID:7105", source="MONDO:equivalentTo", source="NCIT:C4933"}
is_a: MONDO:0004427 {source="DOID:7105", source="NCIT:C4933", source="linkedlifedata"} ! supraglottis neoplasm
is_a: MONDO:0021358 ! neoplasm of hypopharynx
property_value: exactMatch DOID:7105
property_value: exactMatch http://identifiers.org/snomedct/126699008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290353
property_value: exactMatch NCIT:C4933

[Term]
id: MONDO:0004110
name: refractory hairy cell leukemia
def: "Hairy cell leukemia that is resistant to treatment." [NCIT:C8030]
comment: Editor note: TODO refractory DP
synonym: "hairy cell leukemia, refractory" EXACT [NCIT:C8030]
synonym: "refractory hairy cell leukemia" EXACT [DOID:711, NCIT:C8030]
xref: DOID:711 {source="MONDO:equivalentTo"}
xref: NCIT:C8030 {source="DOID:711", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279780 {source="DOID:711", source="MONDO:equivalentTo"}
is_a: MONDO:0004111 {source="DOID:711", source="MONDO:Redundant", source="NCIT:C8030", source="NCIT:C8030/inferred"} ! refractory hematologic cancer
is_a: MONDO:0018935 {source="DOID:711", source="MONDO:Redundant", source="NCIT:C8030"} ! hairy cell leukemia
property_value: exactMatch DOID:711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279780
property_value: exactMatch NCIT:C8030

[Term]
id: MONDO:0004111
name: refractory hematologic cancer
def: "A hematologic malignancy that is resistant to treatment." [NCIT:P378]
synonym: "refractory hematologic cancer" EXACT [NCIT:C27357]
synonym: "refractory hematologic malignancy" EXACT [NCIT:C27357]
xref: DOID:712 {source="MONDO:equivalentTo"}
xref: NCIT:C27357 {source="DOID:712", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335724 {source="DOID:712", source="MONDO:equivalentTo", source="NCIT:C27357"}
is_a: MONDO:0044881 {source="NCIT:C27357"} ! hematopoietic and lymphoid cell neoplasm
property_value: exactMatch DOID:712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335724
property_value: exactMatch NCIT:C27357

[Term]
id: MONDO:0004112
name: radiation cystitis
def: "Inflammation of the bladder due to irradiation." [NCIT:P378]
synonym: "irradiation cystitis" EXACT [DOID:7127, ICD9CM_2006:595.82]
xref: COHD:201353 {source="MONDO:equivalentTo"}
xref: DOID:7127 {source="MONDO:equivalentTo"}
xref: ICD10:N30.4 {source="DOID:7127", source="MONDO:equivalentTo"}
xref: ICD9:595.82 {source="DOID:7127", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C123174 {source="DOID:7127", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:11251000 {source="DOID:7127", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156270 {source="DOID:7127", source="NCIT:C123174", source="MONDO:equivalentTo"}
is_a: MONDO:0006032 {source="DOID:7127", source="NCIT:C123174", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis
property_value: exactMatch DOID:7127
property_value: exactMatch http://identifiers.org/snomedct/11251000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156270
property_value: exactMatch NCIT:C123174

[Term]
id: MONDO:0004113
name: obsolete HCL-v
is_obsolete: true
replaced_by: MONDO:0017600

[Term]
id: MONDO:0004114
name: urinary bladder small cell neuroendocrine carcinoma
def: "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." [NCIT:C9461]
subset: gard_rare {source="GARD:0011923"}
subset: ordo_disease {source="Orphanet:284400"}
synonym: "bladder small cell neuroendocrine cancer" EXACT [NCIT:C9461]
synonym: "bladder small cell neuroendocrine carcinoma" EXACT [MONDO:0006113, NCIT:C9461]
synonym: "poorly differentiated neuroendocrine carcinoma of the bladder" EXACT [Orphanet:284400]
synonym: "SCCB" EXACT [Orphanet:284400]
synonym: "small cell bladder cancer" EXACT [Orphanet:284400]
synonym: "small cell bladder carcinoma" EXACT [Orphanet:284400]
synonym: "small cell carcinoma of the bladder" RELATED [Orphanet:284400]
synonym: "small cell carcinoma of the urinary bladder" EXACT [Orphanet:284400]
synonym: "small cell carcinoma of urinary bladder" EXACT [MONDO:design_pattern]
synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [DOID:7132, NCIT:C9461]
synonym: "small cell neuroendocrine carcinoma of urinary bladder" EXACT [NCIT:C9461]
synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:7132, NCIT:C9461]
synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7132 {source="MONDO:equivalentTo"}
xref: EFO:1000129 {source="MONDO:equivalentTo"}
xref: GARD:0011923 {source="MONDO:equivalentTo"}
xref: ICD10:C67.0 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.1 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.2 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.3 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.4 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.5 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.6 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.7 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.8 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: ICD10:C67.9 {source="ORDO:284400/btnt", source="Orphanet:284400"}
xref: NCIT:C9461 {source="MONDO:equivalentTo", source="DOID:7132", source="EFO:1000129"}
xref: ONCOTREE:SCBC {source="MONDO:equivalentTo"}
xref: Orphanet:284400 {source="MONDO:equivalentTo"}
xref: UMLS:C1332564 {source="MONDO:equivalentTo", source="DOID:7132", source="NCIT:C9461"}
xref: UMLS:CN202866 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="MONDOLEX:0004114", source="NCIT:C9461"} ! small cell carcinoma
is_a: MONDO:0004986 {source="DOID:7132", source="EFO:1000129", source="MONDO:Redundant", source="MONDOLEX:0004114", source="NCIT:C9461"} ! urinary bladder carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0020032"} ! rare
property_value: exactMatch DOID:7132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202866
property_value: exactMatch NCIT:C9461
property_value: exactMatch Orphanet:284400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder xsd:anyURI {source="GARD:0011923"}

[Term]
id: MONDO:0004115
name: obsolete gallbladder small cell carcinoma
synonym: "gall bladder small cell carcinoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0006219

[Term]
id: MONDO:0004116
name: esophageal small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." [NCIT:C6762]
synonym: "esophageal Oat cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophageal small cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophageal small cell NEC" EXACT [NCIT:C6762]
synonym: "esophageal small cell neuroendocrine carcinoma" EXACT [NCIT:C6762]
synonym: "esophagus Oat cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophagus small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6762]
synonym: "Oat cell carcinoma of esophagus" EXACT [DOID:7134, NCIT:C6762]
synonym: "Oat cell carcinoma of the esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma of esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma of the esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma, esophagus" EXACT [NCIT:C6762]
xref: DOID:7134 {source="MONDO:equivalentTo"}
xref: NCIT:C6762 {source="MONDO:equivalentTo", source="DOID:7134"}
xref: UMLS:C1112474 {source="NCIT:C6762", source="MONDO:equivalentTo", source="DOID:7134"}
is_a: MONDO:0000402 {source="DOID:7134", source="MONDO:Redundant", source="MONDOLEX:0004116", source="NCIT:C6762"} ! small cell carcinoma
is_a: MONDO:0003649 ! esophageal neuroendocrine tumor
is_a: MONDO:0019086 {source="DOID:7134", source="MONDO:Redundant", source="MONDOLEX:0004116", source="NCIT:C6762/inferred"} ! carcinoma of esophagus
property_value: exactMatch DOID:7134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112474
property_value: exactMatch NCIT:C6762

[Term]
id: MONDO:0004117
name: ampulla of vater small cell neuroendocrine carcinoma
def: "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C6655]
synonym: "ampulla of Vater small cell carcinoma" EXACT [NCIT:C6655]
synonym: "ampulla of Vater small cell NEC" EXACT [NCIT:C6655]
synonym: "ampulla of Vater small cell neuroendocrine carcinoma" EXACT [NCIT:C6655]
synonym: "ampullary small cell carcinoma" EXACT [DOID:7136, NCIT:C6655]
synonym: "hepatopancreatic ampulla small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "small cell neuroendocrine carcinoma of the ampullary region" EXACT [NCIT:C6655]
xref: DOID:7136 {source="MONDO:equivalentTo"}
xref: NCIT:C6655 {source="DOID:7136", source="MONDO:equivalentTo"}
xref: UMLS:C1332250 {source="DOID:7136", source="MONDO:equivalentTo", source="NCIT:C6655"}
is_a: MONDO:0000402 {source="DOID:7136", source="MONDO:Redundant", source="MONDOLEX:0004117", source="NCIT:C6655"} ! small cell carcinoma
is_a: MONDO:0015072 ! liver neuroendocrine carcinoma
is_a: MONDO:0017590 {source="DOID:7136", source="MONDO:Redundant", source="NCIT:C6655/inferred"} ! carcinoma of the ampulla of vater
is_a: MONDO:0024500 ! duodenal neuroendocrine neoplasm
property_value: exactMatch DOID:7136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332250
property_value: exactMatch NCIT:C6655

[Term]
id: MONDO:0004118
name: cystitis cystica
def: "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells." [NCIT:P378]
xref: COHD:201633 {source="MONDO:equivalentTo"}
xref: DOID:7138 {source="MONDO:equivalentTo"}
xref: ICD9:595.81 {source="DOID:7138", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C96230 {source="DOID:7138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:13285005 {source="DOID:7138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152262 {source="DOID:7138", source="MONDO:equivalentTo", source="NCIT:C96230"}
is_a: MONDO:0006032 {source="DOID:7138", source="NCIT:C96230/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis
property_value: exactMatch DOID:7138
property_value: exactMatch http://identifiers.org/snomedct/13285005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152262
property_value: exactMatch NCIT:C96230

[Term]
id: MONDO:0004119
name: obsolete endometrial small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006197

[Term]
id: MONDO:0004120
name: Bartholin gland small cell carcinoma
def: "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity." [NCIT:P378]
synonym: "Bartholin gland small cell carcinoma" EXACT [DOID:7140, NCIT:C40298]
synonym: "Bartholin's gland small cell carcinoma" EXACT [NCIT:C40298]
synonym: "major vestibular gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "small cell carcinoma of major vestibular gland" EXACT [MONDO:design_pattern]
xref: DOID:7140 {source="MONDO:equivalentTo"}
xref: NCIT:C40298 {source="MONDO:equivalentTo", source="DOID:7140", source="MONDO:kboom-pr-0.99/0.76/4.01"}
xref: UMLS:C1511051 {source="MONDO:equivalentTo", source="DOID:7140", source="NCIT:C40298"}
is_a: MONDO:0000402 {source="DOID:7140", source="MONDO:Redundant", source="MONDOLEX:0004120", source="NCIT:C40298/inferred"} ! small cell carcinoma
is_a: MONDO:0002829 {source="DOID:7140", source="MONDO:Redundant", source="NCIT:C40298"} ! bartholin gland carcinoma
is_a: MONDO:0056816 ! vulvar neuroendocrine carcinoma
property_value: exactMatch DOID:7140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511051
property_value: exactMatch NCIT:C40298

[Term]
id: MONDO:0004121
name: obsolete prostate small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006390

[Term]
id: MONDO:0004122
name: thymus small cell carcinoma
def: "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." [NCIT:P378]
synonym: "small cell carcinoma of the Thymus" EXACT [DOID:7142, NCIT:C6460]
synonym: "small cell carcinoma of Thymus" EXACT [NCIT:C6460]
synonym: "small cell carcinoma of thymus" EXACT []
synonym: "thymic small cell carcinoma" EXACT [MONDO:0006453, NCIT:C6460]
synonym: "thymic small cell carcinoma neuroendocrine type" EXACT [NCIT:C6460]
synonym: "Thymus small cell carcinoma" EXACT [NCIT:C6460]
synonym: "thymus small cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7142 {source="MONDO:equivalentTo"}
xref: EFO:1000578 {source="MONDO:equivalentTo"}
xref: NCIT:C6460 {source="MONDO:equivalentTo", source="DOID:7142", source="MONDO:kboom-pr-1.00/0.86/13.24", source="EFO:1000578"}
xref: UMLS:C1335980 {source="NCIT:C6460", source="MONDO:equivalentTo", source="DOID:7142"}
is_a: MONDO:0000402 {source="DOID:7142", source="MONDO:Redundant", source="MONDOLEX:0004122", source="NCIT:C6460"} ! small cell carcinoma
is_a: MONDO:0020516 ! thymic neuroendocrine carcinoma
property_value: exactMatch DOID:7142
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335980
property_value: exactMatch NCIT:C6460

[Term]
id: MONDO:0004123
name: obsolete laryngeal small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006265

[Term]
id: MONDO:0004124
name: prostate stromal sarcoma
def: "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." [NCIT:C5524]
synonym: "prostate stromal sarcoma" EXACT [NCIT:C5524]
synonym: "stromal sarcoma of prostate" EXACT [NCIT:C5524]
synonym: "stromal sarcoma of the prostate" EXACT [DOID:7152, NCIT:C5524]
xref: DOID:7152 {source="MONDO:equivalentTo"}
xref: NCIT:C5524 {source="MONDO:equivalentTo", source="DOID:7152", source="exact-label-match"}
xref: UMLS:C1335521 {source="MONDO:equivalentTo", source="DOID:7152", source="NCIT:C5524"}
is_a: MONDO:0002854 {source="DOID:7152", source="MONDO:Redundant", source="NCIT:C5524"} ! prostate sarcoma
is_a: MONDO:0044337 {source="MONDO:Redundant", source="NCIT:C5524"} ! stromal sarcoma
property_value: exactMatch DOID:7152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335521
property_value: exactMatch NCIT:C5524

[Term]
id: MONDO:0004125
name: rectum leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of rectum" EXACT [DOID:7160, NCIT:C5552]
synonym: "leiomyoma of the rectum" EXACT [NCIT:C5552]
synonym: "rectal leiomyoma" EXACT [NCIT:C5552]
synonym: "rectum leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:7160 {source="MONDO:equivalentTo"}
xref: NCIT:C5552 {source="DOID:7160", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335682 {source="NCIT:C5552", source="DOID:7160", source="MONDO:equivalentTo"}
is_a: MONDO:0003299 {source="DOID:7160", source="MONDO:Redundant", source="NCIT:C5552"} ! colorectal leiomyoma
is_a: MONDO:0021462 {source="MONDO:Redundant", source="NCIT:C5552"} ! benign neoplasm of rectum
property_value: exactMatch DOID:7160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335682
property_value: exactMatch NCIT:C5552

[Term]
id: MONDO:0004126
name: thyroiditis (disease)
def: "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." [NCIT:P378]
synonym: "inflammation of thyroid gland" EXACT []
synonym: "thyroid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "thyroiditis" EXACT [MONDO:ambiguous]
xref: COHD:133444 {source="MONDO:equivalentTo"}
xref: DOID:7166 {source="MONDO:equivalentTo"}
xref: HP:0100646 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E06 {source="DOID:7166"}
xref: ICD10:E06.9 {source="DOID:7166"}
xref: ICD9:245 {source="DOID:7166"}
xref: ICD9:245.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:7166"}
xref: MESH:D013966 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7166"}
xref: NCIT:C26894 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:7166"}
xref: SCTID:82119001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:7166"}
xref: UMLS:C0040147 {source="NCIT:C26894", source="MONDO:equivalentTo", source="DOID:7166"}
is_a: MONDO:0003240 {source="DOID:7166", source="MESH:D013966", source="MONDO:Redundant", source="NCIT:C26894/inferred", source="linkedlifedata"} ! thyroid gland disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/154664009
property_value: closeMatch http://identifiers.org/snomedct/154668007
property_value: closeMatch http://identifiers.org/snomedct/190301009
property_value: exactMatch DOID:7166
property_value: exactMatch http://identifiers.org/mesh/D013966
property_value: exactMatch http://identifiers.org/snomedct/82119001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040147
property_value: exactMatch NCIT:C26894

[Term]
id: MONDO:0004127
name: lung occult adenocarcinoma
def: "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6699]
synonym: "occult adenocarcinoma of lung" RELATED [DOID:7168, NCIT:C6699]
synonym: "occult adenocarcinoma of the lung" EXACT [DOID:7168, NCIT:C6699]
synonym: "occult lung adenocarcinoma" RELATED [NCIT:C6699]
xref: DOID:7168 {source="MONDO:equivalentTo"}
xref: NCIT:C6699 {source="MONDO:equivalentTo", source="NCIT:C6699", source="DOID:7168"}
xref: UMLS:C1335096 {source="MONDO:equivalentTo", source="NCIT:C6699", source="DOID:7168"}
is_a: MONDO:0005061 {source="DOID:7168", source="MONDOLEX:0004127", source="NCIT:C6699"} ! lung adenocarcinoma
property_value: exactMatch DOID:7168
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335096
property_value: exactMatch NCIT:C6699

[Term]
id: MONDO:0004128
name: lung occult large cell carcinoma
def: "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6685]
synonym: "occult large cell carcinoma of lung" RELATED [NCIT:C6685]
synonym: "occult large cell carcinoma of the lung" EXACT [DOID:7169, NCIT:C6685]
synonym: "occult large cell lung carcinoma" RELATED [NCIT:C6685]
xref: DOID:7169 {source="MONDO:equivalentTo"}
xref: NCIT:C6685 {source="DOID:7169", source="NCIT:C6685", source="MONDO:equivalentTo"}
xref: UMLS:C1335095 {source="DOID:7169", source="NCIT:C6685", source="MONDO:equivalentTo"}
is_a: MONDO:0003050 {source="DOID:7169", source="MONDOLEX:0004128", source="NCIT:C6685"} ! lung large cell carcinoma
property_value: exactMatch DOID:7169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335095
property_value: exactMatch NCIT:C6685

[Term]
id: MONDO:0004129
name: cloacogenic carcinoma
def: "An anal carcinoma arising from the transitional zone of the anal canal." [NCIT:P378]
synonym: "anal canal cloacogenic cancer" EXACT [NCIT:C8255]
synonym: "anal canal cloacogenic carcinoma" EXACT [NCIT:C8255]
synonym: "anal cloacogenic carcinoma" EXACT [NCIT:C8255]
synonym: "cloacogenic anal carcinoma" EXACT [DOID:7173, NCIT:C8255]
synonym: "cloacogenic carcinoma (morphologic abnormality)" EXACT [DOID:7173]
synonym: "cloacogenic carcinoma of anus" EXACT [NCIT:C8255]
synonym: "cloacogenic carcinoma of the anus" EXACT [NCIT:C8255]
xref: DOID:7173 {source="MONDO:equivalentTo"}
xref: ICDO:8124/3 {source="NCIT:C8255"}
xref: MESH:C563020 {source="MONDO:equivalentTo", source="DOID:7173", source="MONDO:ontobio"}
xref: NCIT:C8255 {source="MONDO:equivalentTo", source="DOID:7173", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0007108 {source="NCIT:C8255"} ! anal canal carcinoma
relationship: excluded_subClassOf MONDO:0006082 {source="DOID:7173"} ! anal squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/84570003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334273
property_value: exactMatch DOID:7173
property_value: exactMatch http://identifiers.org/mesh/C563020
property_value: exactMatch NCIT:C8255

[Term]
id: MONDO:0004130
name: anus basaloid carcinoma
def: "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." [NCIT:C8256]
synonym: "anal basaloid carcinoma" EXACT [DOID:7174, NCIT:C8256]
synonym: "anus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "basaloid carcinoma of anus" EXACT [NCIT:C8256]
synonym: "basaloid carcinoma of the anus" EXACT [DOID:7174, NCIT:C8256]
xref: DOID:7174 {source="MONDO:equivalentTo"}
xref: NCIT:C8256 {source="MONDO:equivalentTo", source="DOID:7174"}
xref: UMLS:C0280470 {source="NCIT:C8256", source="MONDO:equivalentTo", source="DOID:7174"}
is_a: MONDO:0003486 {source="DOID:7174", source="MONDO:Redundant", source="MONDOLEX:0004130", source="NCIT:C8256"} ! basaloid squamous cell carcinoma
is_a: MONDO:0006082 {source="DOID:7174", source="MONDO:Redundant", source="NCIT:C8256"} ! anal squamous cell carcinoma
property_value: exactMatch DOID:7174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280470
property_value: exactMatch NCIT:C8256

[Term]
id: MONDO:0004131
name: anal verrucous carcinoma
def: "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." [NCIT:C7470]
synonym: "anal Buschke-Lowenstein tumor" EXACT [NCIT:C7470]
synonym: "anal giant (malignant) condyloma" EXACT [DOID:7175, NCIT:C7470]
synonym: "anal verrucous carcinoma" EXACT [NCIT:C7470]
xref: DOID:7175 {source="MONDO:equivalentTo"}
xref: NCIT:C7470 {source="MONDO:equivalentTo", source="DOID:7175", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332278 {source="MONDO:equivalentTo", source="DOID:7175", source="NCIT:C7470"}
is_a: MONDO:0006082 {source="DOID:7175", source="NCIT:C7470"} ! anal squamous cell carcinoma
is_a: MONDO:0027026 ! Buschke Lowenstein tumor
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:7175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332278
property_value: exactMatch NCIT:C7470

[Term]
id: MONDO:0004132
name: anal canal squamous cell carcinoma
def: "A squamous cell carcinoma arising from the mucosa of the anal canal." [NCIT:C7469]
subset: ordo_disease {source="Orphanet:424019"}
synonym: "anal canal squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7469]
synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519]
xref: DOID:7177 {source="MONDO:equivalentTo"}
xref: ICD10:C21.1 {source="Orphanet:424019", source="ORDO:424019/ntbt"}
xref: NCIT:C7469 {source="MONDO:equivalentTo", source="DOID:7177", source="exact-label-match"}
xref: Orphanet:424019 {source="MONDO:equivalentTo"}
xref: UMLS:C1332262 {source="MONDO:equivalentTo", source="NCIT:C7469", source="DOID:7177"}
is_a: MONDO:0006082 {source="MONDO:Redundant", source="MONDOLEX:0004132", source="NCIT:C7469"} ! anal squamous cell carcinoma
is_a: MONDO:0007108 {source="DOID:7177", source="MONDO:Redundant", source="MONDOLEX:0004132", source="NCIT:C7469", source="Orphanet:424019"} ! anal canal carcinoma
property_value: exactMatch DOID:7177
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332262
property_value: exactMatch NCIT:C7469
property_value: exactMatch Orphanet:424019

[Term]
id: MONDO:0004133
name: pituitary gland mixed eosinophil-basophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes." [NCIT:P378]
synonym: "mixed acidophil-basophil adenoma" EXACT [NCIT:C4148]
synonym: "mixed acidophil-basophil adenoma (morphologic abnormality)" EXACT [DOID:7179]
synonym: "mixed eosinophil-basophil adenoma" RELATED [DOID:7179]
synonym: "pituitary gland mixed acidophil-basophil adenoma" EXACT [NCIT:C4148]
xref: DOID:7179 {source="MONDO:equivalentTo"}
xref: ICDO:8281/0 {source="NCIT:C4148"}
xref: NCIT:C4148 {source="MONDO:equivalentTo", source="DOID:7179", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334312 {source="MONDO:equivalentTo", source="NCIT:C4148", source="DOID:7179"}
is_a: MONDO:0006373 {source="DOID:7179"} ! pituitary gland adenoma
property_value: closeMatch http://identifiers.org/snomedct/48619006
property_value: exactMatch DOID:7179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334312
property_value: exactMatch NCIT:C4148

[Term]
id: MONDO:0004134
name: benign dermal neurilemmoma
synonym: "benign dermal schwannoma" EXACT [NCIT:C5569]
synonym: "benign neurilemmoma of skin" EXACT [NCIT:C5569]
synonym: "benign neurilemmoma of the skin" EXACT [NCIT:C5569]
synonym: "benign schwannoma of skin" EXACT [NCIT:C5569]
synonym: "benign schwannoma of the skin" EXACT [DOID:7181, NCIT:C5569]
synonym: "benign skin neurilemmoma" EXACT [NCIT:C5569]
synonym: "benign skin schwannoma" EXACT [NCIT:C5569]
xref: DOID:7181 {source="MONDO:equivalentTo"}
xref: NCIT:C5569 {source="MONDO:equivalentTo", source="DOID:7181", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332490 {source="MONDO:equivalentTo", source="DOID:7181", source="NCIT:C5569"}
is_a: MONDO:0002531 {source="DOID:7181", source="NCIT:C5569/inferred"} ! skin neoplasm
property_value: exactMatch DOID:7181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332490
property_value: exactMatch NCIT:C5569

[Term]
id: MONDO:0004135
name: subacute lymphocytic thyroiditis
def: "thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function." [NCIT:P378]
synonym: "silent thyroiditis" EXACT [NCIT:C35829]
synonym: "Subacute lymphocytic thyroiditis" EXACT [DOID:7187]
synonym: "Subacute painless thyroiditis" EXACT [NCIT:C35829]
xref: DOID:7187 {source="MONDO:equivalentTo"}
xref: NCIT:C35829 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:7187"}
xref: SCTID:361126006 {source="MONDO:equivalentTo", source="DOID:7187", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271814 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1306804 {source="NCIT:C35829", source="MONDO:equivalentTo", source="DOID:7187"}
is_a: MONDO:0004126 {source="DOID:7187", source="NCIT:C35829/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroiditis (disease)
property_value: closeMatch http://identifiers.org/snomedct/18018005
property_value: exactMatch DOID:7187
property_value: exactMatch http://identifiers.org/snomedct/361126006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306804
property_value: exactMatch NCIT:C35829

[Term]
id: MONDO:0004136
name: ovarian endometrioid cystadenoma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." [NCIT:C40075]
synonym: "ovarian endometrioid cystadenoma" EXACT [NCIT:C40075]
xref: DOID:7191 {source="MONDO:equivalentTo"}
xref: NCIT:C40075 {source="DOID:7191", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518713 {source="DOID:7191", source="MONDO:equivalentTo", source="NCIT:C40075"}
is_a: MONDO:0005183 {source="DOID:7191", source="NCIT:C40075"} ! ovarian cystadenoma
property_value: exactMatch DOID:7191
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518713
property_value: exactMatch NCIT:C40075

[Term]
id: MONDO:0004138
name: obsolete maxillary sinus adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006297

[Term]
id: MONDO:0004139
name: normocytic anemia
def: "Anemia in which the red blood cell volume is normal." [NCIT:C35142]
synonym: "anemia normocytic" EXACT [DOID:720, MTH:NOCODE]
synonym: "normocytic Anemia" EXACT [NCIT:C35142]
xref: DOID:720 {source="MONDO:equivalentTo"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35142 {source="DOID:720", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:300980002 {source="DOID:720", source="MONDO:kboom-pr-1.00/0.91/27.35", source="MONDO:equivalentTo"}
xref: UMLS:C0085577 {source="DOID:720", source="NCIT:C35142", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="DOID:720", source="NCIT:C35142", source="linkedlifedata"} ! anemia (disease)
property_value: exactMatch DOID:720
property_value: exactMatch http://identifiers.org/snomedct/300980002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085577
property_value: exactMatch NCIT:C35142

[Term]
id: MONDO:0004140
name: intermediate malignant teratoma
def: "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." [NCIT:P378]
synonym: "Intermediate immature teratoma" EXACT [DOID:7202, NCIT:C4288]
synonym: "malignant teratoma, intermediate" EXACT [DOID:7202]
synonym: "malignant teratoma, intermediate (morphologic abnormality)" EXACT [DOID:7202]
xref: DOID:7202 {source="MONDO:equivalentTo"}
xref: ICDO:9083/3 {source="NCIT:C4288"}
xref: NCIT:C4288 {source="DOID:7202", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334522 {source="DOID:7202", source="MONDO:equivalentTo", source="NCIT:C4288"}
is_a: MONDO:0003514 {source="DOID:7202", source="MONDOLEX:0004140"} ! malignant teratoma
property_value: closeMatch http://identifiers.org/snomedct/21912003
property_value: exactMatch DOID:7202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334522
property_value: exactMatch NCIT:C4288

[Term]
id: MONDO:0004141
name: melanomatosis
synonym: "melanomatosis" EXACT [NCIT:C9499]
xref: DOID:7206 {source="MONDO:equivalentTo"}
xref: NCIT:C9499 {source="DOID:7206", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334691 {source="NCIT:C9499", source="DOID:7206", source="MONDO:equivalentTo"}
is_a: MONDO:0005105 {source="DOID:7206", source="NCIT:C9499"} ! melanoma (disease)
property_value: exactMatch DOID:7206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334691
property_value: exactMatch NCIT:C9499

[Term]
id: MONDO:0004142
name: lung combined large cell neuroendocrine carcinoma
def: "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma." [NCIT:P378]
synonym: "combined large cell lung neuroendocrine carcinoma" EXACT [NCIT:C7267]
synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT [DOID:7207, NCIT:C7267]
synonym: "combined large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C7267]
synonym: "pulmonary combined large cell neuroendocrine carcinoma" EXACT [DOID:7207, NCIT:C7267]
xref: DOID:7207 {source="MONDO:equivalentTo"}
xref: NCIT:C7267 {source="DOID:7207", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333122 {source="DOID:7207", source="NCIT:C7267", source="MONDO:equivalentTo"}
is_a: MONDO:0003960 {source="DOID:7207", source="MONDOLEX:0004142", source="NCIT:C7267"} ! pulmonary large cell neuroendocrine carcinoma
is_a: MONDO:0006167 {source="NCIT:C7267"} ! combined lung carcinoma
property_value: exactMatch DOID:7207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333122
property_value: exactMatch NCIT:C7267

[Term]
id: MONDO:0004143
name: psammomatous meningioma
def: "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." [NCIT:C4331]
synonym: "psammomatous meningioma (morphologic abnormality)" EXACT [DOID:7210]
xref: DOID:7210 {source="MONDO:equivalentTo"}
xref: EFO:1000500 {source="MONDO:equivalentTo"}
xref: ICDO:9533/0 {source="NCIT:C4331"}
xref: NCIT:C4331 {source="MONDO:equivalentTo", source="DOID:7210", source="exact-label-match"}
xref: UMLS:C0334607 {source="NCIT:C4331", source="MONDO:equivalentTo", source="DOID:7210"}
is_a: MONDO:0016642 {source="DOID:7210", source="EFO:1000500", source="MONDOLEX:0004143", source="NCIT:C4331/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/38431002
property_value: exactMatch DOID:7210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334607
property_value: exactMatch NCIT:C4331

[Term]
id: MONDO:0004144
name: fibrous meningioma
def: "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." [NCIT:C4330]
synonym: "fibroblastic meningioma" EXACT [DOID:7211, NCIT:C4330]
synonym: "fibrous meningioma (morphologic abnormality)" EXACT [DOID:7211]
xref: DOID:7211 {source="MONDO:equivalentTo"}
xref: EFO:1000258 {source="MONDO:equivalentTo"}
xref: ICDO:9532/0 {source="NCIT:C4330"}
xref: NCIT:C4330 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7211"}
xref: UMLS:C0334606 {source="NCIT:C4330", source="MONDO:equivalentTo", source="DOID:7211"}
is_a: MONDO:0016642 {source="DOID:7211", source="EFO:1000258", source="MONDOLEX:0004144", source="NCIT:C4330/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/511008
property_value: exactMatch DOID:7211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334606
property_value: exactMatch NCIT:C4330

[Term]
id: MONDO:0004145
name: meningothelial meningioma
def: "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." [NCIT:C4329]
synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [DOID:7212]
synonym: "Meningotheliomatous meningioma" EXACT [DOID:7212, NCIT:C4329]
xref: DOID:7212 {source="MONDO:equivalentTo"}
xref: EFO:1000372 {source="MONDO:equivalentTo"}
xref: ICDO:9531/0 {source="NCIT:C4329"}
xref: NCIT:C4329 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7212"}
xref: UMLS:C0334605 {source="MONDO:equivalentTo", source="DOID:7212", source="NCIT:C4329"}
is_a: MONDO:0016642 {source="DOID:7212", source="EFO:1000372", source="MONDOLEX:0004145", source="NCIT:C4329/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/68944005
property_value: exactMatch DOID:7212
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334605
property_value: exactMatch NCIT:C4329

[Term]
id: MONDO:0004146
name: transitional meningioma
def: "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." [NCIT:C4333]
synonym: "mixed meningioma" EXACT [NCIT:C4333]
synonym: "transitional (mixed) meningioma" EXACT [DOID:7213, NCIT:C4333]
synonym: "transitional meningioma (morphologic abnormality)" EXACT [DOID:7213]
xref: DOID:7213 {source="MONDO:equivalentTo"}
xref: EFO:1000602 {source="MONDO:equivalentTo"}
xref: ICDO:9537/0 {source="NCIT:C4333"}
xref: NCIT:C4333 {source="DOID:7213", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334611 {source="DOID:7213", source="MONDO:equivalentTo", source="NCIT:C4333"}
is_a: MONDO:0016642 {source="DOID:7213", source="EFO:1000602", source="MONDOLEX:0004146", source="NCIT:C4333/inferred"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/64967004
property_value: exactMatch DOID:7213
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334611
property_value: exactMatch NCIT:C4333

[Term]
id: MONDO:0004147
name: noninvasive malignant thymoma
def: "A morphologically malignant thymoma that is entirely confined within the capsule." [NCIT:C9080]
synonym: "malignant thymoma, noninvasive" EXACT [NCIT:C9080]
synonym: "thymoma malignant noninvasive" EXACT [DOID:7214, NCIT:C9080]
xref: DOID:7214 {source="MONDO:equivalentTo"}
xref: NCIT:C9080 {source="DOID:7214", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0278847 {source="DOID:7214", source="MONDO:equivalentTo", source="NCIT:C9080"}
is_a: MONDO:0006456 {source="DOID:7214", source="MONDOLEX:0004147", source="NCIT:C9080/inferred"} ! thymoma (disease)
property_value: exactMatch DOID:7214
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278847
property_value: exactMatch NCIT:C9080

[Term]
id: MONDO:0004148
name: gallbladder papillary neoplasm with an associated invasive carcinoma
def: "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma." [NCIT:C5743]
synonym: "gall bladder papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder papillary carcinoma" RELATED [DOID:7221]
synonym: "gallbladder papillary neoplasm with an associated invasive cancer" EXACT [NCIT:C5743]
synonym: "gallbladder papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743]
synonym: "intracystic papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743]
synonym: "papillary carcinoma of gallbladder" EXACT [NCIT:C5743]
synonym: "papillary carcinoma of the gallbladder" EXACT [DOID:7221, NCIT:C5743]
xref: DOID:7221 {source="MONDO:equivalentTo"}
xref: ICDO:8503/3 {source="NCIT:C5743"}
xref: NCIT:C5743 {source="MONDO:equivalentTo", source="DOID:7221"}
xref: UMLS:C1333753 {source="MONDO:equivalentTo", source="DOID:7221"}
is_a: MONDO:0002512 ! papillary adenocarcinoma
is_a: MONDO:0002518 {source="MONDO:Redundant", source="MONDOLEX:0004148", source="NCIT:C5743"} ! gallbladder papillary neoplasm
is_a: MONDO:0006215 {source="DOID:7221", source="MONDO:Entailed"} ! gallbladder adenocarcinoma
property_value: exactMatch DOID:7221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333753
property_value: exactMatch NCIT:C5743

[Term]
id: MONDO:0004149
name: gallbladder pleomorphic giant cell adenocarcinoma
synonym: "pleomorphic giant cell adenocarcinoma of the gallbladder" EXACT [DOID:7222, NCIT:C5838]
xref: DOID:7222 {source="MONDO:equivalentTo"}
is_a: MONDO:0006215 {source="DOID:7222", source="MONDOLEX:0004149"} ! gallbladder adenocarcinoma
property_value: exactMatch DOID:7222

[Term]
id: MONDO:0004150
name: breast giant fibroadenoma
def: "A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity." [NCIT:C4273]
synonym: "breast giant fibroadenoma" EXACT [NCIT:C4273]
synonym: "giant breast fibroadenoma" EXACT [NCIT:C4273]
synonym: "giant fibroadenoma" EXACT [DOID:7223, NCIT:C4273]
synonym: "giant fibroadenoma of breast" EXACT [NCIT:C4273]
synonym: "giant fibroadenoma of the breast" EXACT [NCIT:C4273]
xref: DOID:7223 {source="MONDO:equivalentTo"}
xref: ICDO:9016/0 {source="NCIT:C4273"}
xref: NCIT:C4273 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7223"}
xref: SCTID:254846003 {source="MONDO:equivalentTo", source="DOID:7223", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334500 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4273", source="MONDO:equivalentTo"}
xref: UMLS:C0346157 {source="MONDO:equivalentTo", source="DOID:7223"}
is_a: MONDO:0002056 {source="DOID:7223", source="NCIT:C4273"} ! breast fibroadenoma
property_value: exactMatch DOID:7223
property_value: exactMatch http://identifiers.org/snomedct/254846003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346157
property_value: exactMatch NCIT:C4273

[Term]
id: MONDO:0004151
name: spinal meninges cancer
def: "A malignant neoplasm involving the meninx of spinal cord." [MONDO:DesignPattern]
synonym: "cancer of meninx of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant meninx of spinal cord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of meninx of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of spinal meninges" EXACT [DOID:7224]
synonym: "meninx of spinal cord cancer" EXACT [MONDO:patterns/location]
xref: DOID:7224 {source="MONDO:equivalentTo"}
xref: ICD10:C70.1 {source="DOID:7224"}
xref: ICD9:192.3 {source="DOID:7224", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363476006 {source="DOID:7224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153647 {source="MEDGEN:kboom-pr97-c98", source="DOID:7224", source="MONDO:equivalentTo"}
is_a: MONDO:0003544 {source="DOID:7224", source="MONDO:Redundant", source="MONDOLEX:0004151", source="linkedlifedata"} ! spinal cord cancer
is_a: MONDO:0021322 {source="MONDO:Redundant", source="linkedlifedata"} ! malignant tumor of meninges
property_value: closeMatch http://identifiers.org/snomedct/188320007
property_value: closeMatch http://identifiers.org/snomedct/94069006
property_value: exactMatch DOID:7224
property_value: exactMatch http://identifiers.org/snomedct/363476006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153647

[Term]
id: MONDO:0004152
name: chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation
def: "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years." [NCIT:C37201]
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" EXACT [NCIT:C37201]
synonym: "CLL/SLL with IGVH SHM" EXACT [DOID:7230, NCIT:C37201]
synonym: "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37201]
xref: DOID:7230 {source="MONDO:equivalentTo"}
xref: NCIT:C37201 {source="MONDO:equivalentTo", source="DOID:7230"}
xref: UMLS:C1333037 {source="NCIT:C37201", source="MONDO:equivalentTo", source="DOID:7230"}
is_a: MONDO:0003864 {source="DOID:7230", source="MONDOLEX:0004152", source="NCIT:C37201"} ! chronic lymphocytic leukemia/small lymphocytic lymphoma
property_value: exactMatch DOID:7230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333037
property_value: exactMatch NCIT:C37201

[Term]
id: MONDO:0004153
name: childhood central nervous system embryonal carcinoma
def: "An embryonal carcinoma that arises from the central nervous system and occurs during childhood." [NCIT:P378]
synonym: "childhood central nervous system embryonal carcinoma" EXACT [NCIT:C6208]
synonym: "childhood CNS embryonal cell carcinoma" EXACT [NCIT:C6208]
synonym: "childhood embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "embryonal carcinoma of childhood central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of childhood CNS" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of pediatric central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of pediatric CNS" EXACT [DOID:7231, NCIT:C6208]
synonym: "embryonal carcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "embryonal carcinoma of the childhood central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the childhood CNS" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the pediatric central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the pediatric CNS" EXACT [NCIT:C6208]
synonym: "pediatric central nervous system embryonal carcinoma" EXACT [NCIT:C6208]
synonym: "pediatric CNS embryonal cell carcinoma" RELATED [DOID:7231]
synonym: "pediatric embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric embryonal carcinoma of the central nervous system" RELATED [MONDO:patterns/childhood]
xref: DOID:7231 {source="MONDO:equivalentTo"}
xref: NCIT:C6208 {source="MONDO:equivalentTo", source="DOID:7231"}
xref: UMLS:C1377605 {source="MONDO:equivalentTo", source="DOID:7231", source="NCIT:C6208"}
is_a: MONDO:0003750 {source="DOID:7231", source="MONDO:Redundant", source="NCIT:C6208"} ! childhood central nervous system germ cell tumor
is_a: MONDO:0004479 {source="MONDO:Redundant", source="NCIT:C6208/inferred"} ! malignant childhood germ cell neoplasm
is_a: MONDO:0018843 {source="MONDO:Redundant", source="MONDOLEX:0004153", source="NCIT:C6208"} ! embryonal carcinoma of the central nervous system
property_value: exactMatch DOID:7231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377605
property_value: exactMatch NCIT:C6208

[Term]
id: MONDO:0004154
name: obsolete central nervous system embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0018843

[Term]
id: MONDO:0004155
name: adult central nervous system embryonal carcinoma
def: "A embryonal carcinoma of the central nervous system that occurs in an adult." [MONDO:design_pattern]
synonym: "adult central nervous system embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "adult CNS embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "adult embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "Central nervous system embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of adult central nervous system" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of adult CNS" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of the adult central nervous system" EXACT [DOID:7233, NCIT:C5790]
synonym: "embryonal carcinoma of the adult CNS" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of the central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7233 {source="MONDO:equivalentTo"}
xref: NCIT:C5790 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7233"}
xref: UMLS:C1370503 {source="NCIT:C5790", source="MONDO:equivalentTo", source="DOID:7233"}
is_a: MONDO:0003405 {source="DOID:7233", source="MONDO:Redundant", source="NCIT:C5790"} ! adult central nervous system germ cell tumor
is_a: MONDO:0018843 {source="MONDO:Redundant", source="MONDOLEX:0004155", source="NCIT:C5790"} ! embryonal carcinoma of the central nervous system
property_value: exactMatch DOID:7233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370503
property_value: exactMatch NCIT:C5790

[Term]
id: MONDO:0004156
name: pancreatic mucinous cystadenocarcinoma
def: "A mucinous cystadenocarcinoma that involves the pancreas." [MONDO:patterns/location]
synonym: "colloid Cystadencarcinoma of pancreas" EXACT [NCIT:C5713]
synonym: "colloid Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "colloidal Cystadencarcinoma of pancreas" EXACT [NCIT:C5713]
synonym: "colloidal Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "mucinous Cystadencarcinoma of pancreas" EXACT [DOID:7234, NCIT:C5713]
synonym: "mucinous Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "pancreatic colloid Cystadencarcinoma" EXACT [NCIT:C5713]
synonym: "pancreatic colloid cystadenocarcinoma" RELATED [DOID:7234]
synonym: "pancreatic colloidal Cystadencarcinoma" EXACT [NCIT:C5713]
synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [NCIT:C5713]
xref: DOID:7234 {source="MONDO:equivalentTo"}
xref: NCIT:C5713 {source="MONDO:equivalentTo", source="DOID:7234"}
xref: UMLS:C1335308 {source="MONDO:equivalentTo", source="NCIT:C5713", source="DOID:7234"}
is_a: MONDO:0002867 {source="DOID:7234", source="MONDO:Redundant"} ! pancreatic cystadenocarcinoma
is_a: MONDO:0005858 ! mucinous cystadenocarcinoma
property_value: exactMatch DOID:7234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335308
property_value: exactMatch NCIT:C5713

[Term]
id: MONDO:0004157
name: obsolete pancreatic mucinous cystadenoma
is_obsolete: true
replaced_by: MONDO:0018523

[Term]
id: MONDO:0004158
name: pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma
def: "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component." [NCIT:C41246]
synonym: "pancreatic invasive mucinous cystadenocarcinoma" EXACT [NCIT:C41246]
synonym: "pancreatic mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246]
synonym: "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246]
xref: DOID:7236 {source="MONDO:equivalentTo"}
xref: ICDO:8470/3 {source="NCIT:C41246"}
xref: NCIT:C41246 {source="DOID:7236", source="MONDO:equivalentTo"}
xref: UMLS:C1518870 {source="DOID:7236", source="MONDO:equivalentTo", source="NCIT:C41246"}
is_a: MONDO:0004156 {source="DOID:7236"} ! pancreatic mucinous cystadenocarcinoma
property_value: exactMatch DOID:7236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518870
property_value: exactMatch NCIT:C41246

[Term]
id: MONDO:0004159
name: pancreatic non-invasive mucinous cystadenocarcinoma
def: "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis." [NCIT:P378]
xref: DOID:7237 {source="MONDO:equivalentTo"}
xref: ICDO:8470/2 {source="NCIT:C41245"}
xref: NCIT:C41245 {source="DOID:7237", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1518874 {source="DOID:7237", source="MONDO:equivalentTo", source="NCIT:C41245"}
is_a: MONDO:0004156 {source="DOID:7237"} ! pancreatic mucinous cystadenocarcinoma
property_value: exactMatch DOID:7237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518874
property_value: exactMatch NCIT:C41245

[Term]
id: MONDO:0004160
name: female stress incontinence
def: "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause." [NCIT:P378]
synonym: "female urinary stress incontinence" EXACT [DOID:724]
synonym: "stress incontinence - female" EXACT [DOID:724]
xref: COHD:195007 {source="MONDO:equivalentTo"}
xref: DOID:724 {source="MONDO:equivalentTo"}
xref: ICD9:625.6 {source="DOID:724"}
xref: NCIT:C35042 {source="DOID:724", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0038437 {source="NCIT:C35042", source="DOID:724", source="MONDO:equivalentTo"}
is_a: MONDO:0006026 {source="DOID:724", source="NCIT:C35042/inferred"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/156028007
property_value: closeMatch http://identifiers.org/snomedct/198408003
property_value: closeMatch http://identifiers.org/snomedct/266668007
property_value: closeMatch http://identifiers.org/snomedct/60241006
property_value: exactMatch DOID:724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038437
property_value: exactMatch NCIT:C35042

[Term]
id: MONDO:0004161
name: uterine corpus apoplectic leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives." [NCIT:C40165]
synonym: "uterine corpus hemorrhagic cellular leiomyoma" EXACT [NCIT:C40165]
synonym: "uterine corpus leiomyoma with apoplectic change" EXACT [NCIT:C40165]
xref: DOID:7241 {source="MONDO:equivalentTo"}
xref: NCIT:C40165 {source="MONDO:equivalentTo", source="DOID:7241", source="exact-label-match"}
xref: UMLS:C1519852 {source="MONDO:equivalentTo", source="DOID:7241", source="NCIT:C40165"}
is_a: MONDO:0007886 {source="NCIT:C40165"} ! uterine corpus leiomyoma
relationship: excluded_subClassOf MONDO:0004162 {source="DOID:7241"} ! uterine corpus cellular leiomyoma
property_value: exactMatch DOID:7241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519852
property_value: exactMatch NCIT:C40165

[Term]
id: MONDO:0004162
name: uterine corpus cellular leiomyoma
def: "A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." [NCIT:C40163]
synonym: "body of uterus cellular leiomyoma" EXACT [MONDO:patterns/location]
synonym: "cellular leiomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus cellular leiomyoma" EXACT [NCIT:C40163]
xref: DOID:7242 {source="MONDO:equivalentTo"}
xref: NCIT:C40163 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7242"}
xref: UMLS:C1519845 {source="MONDO:equivalentTo", source="NCIT:C40163", source="DOID:7242"}
is_a: MONDO:0003296 {source="DOID:7242", source="MONDO:Redundant", source="MONDOLEX:0004162", source="NCIT:C40163"} ! cellular leiomyoma
is_a: MONDO:0007886 {source="MONDO:Redundant", source="MONDOLEX:0004162", source="NCIT:C40163"} ! uterine corpus leiomyoma
property_value: exactMatch DOID:7242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519845
property_value: exactMatch NCIT:C40163

[Term]
id: MONDO:0004163
name: bladder urachal urothelial carcinoma
def: "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." [NCIT:C39844]
synonym: "bladder urachal urothelial carcinoma" EXACT [NCIT:C39844]
xref: DOID:7244 {source="MONDO:equivalentTo"}
xref: NCIT:C39844 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7244"}
xref: UMLS:C1511207 {source="MONDO:equivalentTo", source="NCIT:C39844", source="DOID:7244"}
is_a: MONDO:0003715 {source="DOID:7244", source="MONDO:Redundant", source="NCIT:C39844"} ! bladder urachal carcinoma
is_a: MONDO:0005611 {source="MONDO:Redundant", source="NCIT:C39844"} ! bladder transitional cell carcinoma
property_value: exactMatch DOID:7244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511207
property_value: exactMatch NCIT:C39844

[Term]
id: MONDO:0004164
name: lymphoepithelioma-like acinar prostate adenocarcinoma
def: "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." [NCIT:P378]
synonym: "acinar prostate adenocarcinoma, lymphoepithelioma-like variant" EXACT [NCIT:C39885]
synonym: "lymphoepithelioma-like variant acinar prostate adenocarcinoma" EXACT [DOID:7246]
xref: DOID:7246 {source="MONDO:equivalentTo"}
xref: NCIT:C39885 {source="DOID:7246", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C1515864 {source="DOID:7246", source="NCIT:C39885", source="MONDO:equivalentTo"}
is_a: MONDO:0002493 {source="MONDOLEX:0004164", source="NCIT:C39885"} ! prostatic acinar adenocarcinoma
property_value: exactMatch DOID:7246
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515864
property_value: exactMatch NCIT:C39885

[Term]
id: MONDO:0004165
name: selective IgD deficiency disease
def: "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection." [NCIT:P378]
synonym: "selective IgD immunodeficiency" EXACT [DOID:7263, NCIT:C27144]
synonym: "selective immunoglobulin D deficiency" EXACT [DOID:7263]
xref: DOID:7263 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27144 {source="MONDO:equivalentTo", source="DOID:7263", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:234541006 {source="MONDO:equivalentTo", source="DOID:7263", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0398695 {source="NCIT:C27144", source="MONDO:equivalentTo", source="DOID:7263"}
is_a: MONDO:0003739 {source="DOID:7263", source="NCIT:C27144"} ! selective immunoglobulin deficiency disease
property_value: exactMatch DOID:7263
property_value: exactMatch http://identifiers.org/snomedct/234541006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398695
property_value: exactMatch NCIT:C27144

[Term]
id: MONDO:0004166
name: hereditary fallopian tube carcinoma
def: "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma." [NCIT:C40455]
synonym: "familial fallopian tube carcinoma" EXACT [NCIT:C40455]
synonym: "familiar fallopian tube carcinoma" RELATED [DOID:7266]
synonym: "hereditary fallopian tube cancer" EXACT [NCIT:C40455]
synonym: "hereditary fallopian tube carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C40455]
xref: DOID:7266 {source="MONDO:equivalentTo"}
xref: NCIT:C40455 {source="MONDO:equivalentTo", source="DOID:7266"}
xref: UMLS:C1512418 {source="MONDO:equivalentTo", source="DOID:7266", source="NCIT:C40455"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006206 {source="DOID:7266", source="MONDO:Redundant", source="MONDOLEX:0004166", source="NCIT:C40455"} ! fallopian tube carcinoma
intersection_of: MONDO:0006206 ! fallopian tube carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:7266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512418
property_value: exactMatch NCIT:C40455

[Term]
id: MONDO:0004167
name: obsolete lung clear cell carcinoma
xref: DOID:7267 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:254630009 {source="MONDO:equivalentTo", source="DOID:7267"}
xref: UMLS:C0345959 {source="MONDO:equivalentTo", source="DOID:7267"}
property_value: exactMatch DOID:7267
property_value: exactMatch http://identifiers.org/snomedct/254630009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345959
is_obsolete: true
replaced_by: MONDO:0024386

[Term]
id: MONDO:0004168
name: cribriform variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes." [NCIT:P378]
synonym: "testicular seminoma, cribriform variant" EXACT [NCIT:C40957]
xref: DOID:7269 {source="MONDO:equivalentTo"}
xref: NCIT:C40957 {source="DOID:7269", source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1515292 {source="DOID:7269", source="NCIT:C40957", source="MONDO:equivalentTo"}
is_a: MONDO:0003669 {source="DOID:7269", source="MONDO:Redundant", source="MONDOLEX:0004168", source="NCIT:C40957"} ! testicular seminoma
property_value: exactMatch DOID:7269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515292
property_value: exactMatch NCIT:C40957

[Term]
id: MONDO:0004169
name: premenstrual tension
def: "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." [MESH:D011293]
xref: DOID:727 {source="MONDO:equivalentTo"}
xref: ICD10:N94.3 {source="DOID:727"}
xref: ICD9:625.4 {source="MONDO:relatedTo", source="DOID:727"}
xref: MESH:D011293 {source="DOID:727", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0376356 {source="DOID:727", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="DOID:727"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/123076003
property_value: closeMatch http://identifiers.org/snomedct/156026006
property_value: closeMatch http://identifiers.org/snomedct/198407008
property_value: exactMatch DOID:727
property_value: exactMatch http://identifiers.org/mesh/D011293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376356

[Term]
id: MONDO:0004170
name: nodular episcleritis
xref: COHD:433207 {source="MONDO:equivalentTo"}
xref: DOID:728 {source="MONDO:equivalentTo"}
xref: ICD10:H15.12 {source="DOID:728"}
xref: ICD9:379.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:728"}
xref: SCTID:70558001 {source="MONDO:equivalentTo", source="DOID:728", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155352 {source="MONDO:equivalentTo", source="DOID:728"}
is_a: MONDO:0001269 {source="DOID:728", source="linkedlifedata/inferred"} ! scleral disease
property_value: exactMatch DOID:728
property_value: exactMatch http://identifiers.org/snomedct/70558001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155352

[Term]
id: MONDO:0004171
name: obsolete congenital epulis
is_obsolete: true
replaced_by: MONDO:0015528

[Term]
id: MONDO:0004172
name: uterine corpus adenocarcinofibroma
def: "A adenocarcinofibroma that involves the body of uterus." [MONDO:patterns/location]
synonym: "adenocarcinofibroma of body of uterus" EXACT []
synonym: "body of uterus adenocarcinofibroma" EXACT [MONDO:patterns/location]
xref: DOID:7281 {source="MONDO:equivalentTo"}
is_a: MONDO:0002879 ! uterine body mixed cancer
is_a: MONDO:0002991 ! adenocarcinofibroma
property_value: exactMatch DOID:7281

[Term]
id: MONDO:0004173
name: adenocarcinoma of skene gland origin
def: "A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma." [NCIT:C39863]
synonym: "adenocarcinoma of Skene gland" EXACT [NCIT:C39863]
synonym: "adenocarcinoma of Skene gland origin" EXACT [NCIT:C39863]
synonym: "carcinoma of paraurethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of Skene gland" EXACT [NCIT:C39863]
synonym: "carcinoma of Skene's gland" EXACT [NCIT:C39863]
synonym: "carcinoma of the paraurethral gland" EXACT [DOID:7284, NCIT:C7371]
synonym: "paraurethral gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "paraurethral gland carcinoma" EXACT [DOID:7284, MONDO:patterns/location]
synonym: "Skene gland carcinoma" RELATED [DOID:7284]
xref: DOID:7284 {source="MONDO:equivalentTo"}
xref: NCIT:C39863 {source="MONDO:equivalentTo", source="DOID:7284"}
xref: UMLS:C1527427 {source="NCIT:C39863", source="MONDO:equivalentTo", source="DOID:7284"}
is_a: MONDO:0001869 {source="DOID:7284", source="MONDO:Entailed", source="MONDO:Redundant"} ! paraurethral gland cancer
is_a: MONDO:0024336 ! vulvar adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335352
property_value: closeMatch NCIT:C7371
property_value: exactMatch DOID:7284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527427
property_value: exactMatch NCIT:C39863

[Term]
id: MONDO:0004174
name: secretory uterine corpus endometrioid adenocarcinoma
def: "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium." [NCIT:P378]
synonym: "endometrial endometrioid adenocarcinoma, secretory variant" EXACT [NCIT:C27839]
synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27839]
xref: DOID:7289 {source="MONDO:equivalentTo"}
xref: ICDO:8382/3 {source="NCIT:C27839"}
xref: NCIT:C27839 {source="MONDO:equivalentTo", source="DOID:7289", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336907 {source="MONDO:equivalentTo", source="DOID:7289"}
is_a: MONDO:0005461 {source="DOID:7289", source="MONDOLEX:0004174", source="NCIT:C27839/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="MONDOLEX:0004174", source="NCIT:C27839"} ! endometrial endometrioid adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266057
property_value: exactMatch DOID:7289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336907
property_value: exactMatch NCIT:C27839

[Term]
id: MONDO:0004175
name: mucin-rich endometrial endometrioid adenocarcinoma
xref: DOID:7293 {source="MONDO:equivalentTo"}
xref: NCIT:C8717 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7293"}
xref: UMLS:C1513711 {source="MONDO:equivalentTo", source="DOID:7293", source="NCIT:C8717"}
is_a: MONDO:0005461 {source="DOID:7293", source="MONDOLEX:0004175"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="MONDO:cjm", source="MONDOLEX:0004175"} ! endometrial endometrioid adenocarcinoma
property_value: exactMatch DOID:7293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513711
property_value: exactMatch NCIT:C8717

[Term]
id: MONDO:0004176
name: childhood extraosseous osteosarcoma
def: "An osteosarcoma arising from the soft tissue, and occurring during childhood." [NCIT:P378]
synonym: "childhood extraosseous osteosarcoma" EXACT [NCIT:C27376]
synonym: "childhood extraskeletal osteosarcoma" EXACT [NCIT:C27376]
synonym: "extraosseous osteosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric extraosseous osteosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27376]
synonym: "pediatric extraosseous osteosarcoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric extraskeletal osteosarcoma" EXACT [DOID:7297, NCIT:C27376]
xref: DOID:7297 {source="MONDO:equivalentTo"}
xref: NCIT:C27376 {source="MONDO:kboom-pr-1.00/0.92/6.15", source="MONDO:equivalentTo", source="DOID:7297"}
xref: UMLS:C1332968 {source="NCIT:C27376", source="MONDO:equivalentTo", source="DOID:7297"}
is_a: MONDO:0002621 {source="DOID:7297", source="MONDO:Redundant", source="MONDOLEX:0004176", source="NCIT:C27376"} ! extraosseous osteosarcoma
is_a: MONDO:0002623 {source="MONDO:Redundant", source="MONDOLEX:0004176", source="NCIT:C27376"} ! pediatric osteosarcoma
property_value: exactMatch DOID:7297
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332968
property_value: exactMatch NCIT:C27376

[Term]
id: MONDO:0004177
name: benign urethral neoplasm
def: "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics." [NCIT:C3619]
synonym: "benign neoplasm of the urethra" EXACT [NCIT:C3619]
synonym: "benign neoplasm of urethra" EXACT [NCIT:C3619]
synonym: "benign tumor of the urethra" EXACT [NCIT:C3619]
synonym: "benign tumor of urethra" EXACT [NCIT:C3619]
synonym: "benign urethra neoplasm" EXACT [NCIT:C3619]
synonym: "benign urethra tumor" EXACT [NCIT:C3619]
synonym: "benign urethral neoplasm" EXACT [NCIT:C3619]
synonym: "benign urethral neoplasm NOS" RELATED EXCLUDE [NCIT:C3619]
synonym: "benign urethral tumor" EXACT [NCIT:C3619]
synonym: "neoplasm of urethra" EXACT EXCLUDE [DOID:730]
synonym: "neoplasm. urethra" EXACT [DOID:730, NCIT:C3428]
synonym: "urethra benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "urethral benign neoplasm" RELATED [DOID:730]
xref: COHD:196377 {source="MONDO:equivalentTo"}
xref: DOID:730 {source="MONDO:equivalentTo"}
xref: ICD9:223.81 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3619 {source="MONDO:equivalentTo"}
xref: SCTID:92466006 {source="MONDO:kboom-pr-0.90/0.76/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0004180 {source="DOID:730", source="MONDO:Redundant", source="NCIT:C3619", source="linkedlifedata"} ! benign urinary system neoplasm
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C3619"} ! urethra neoplasm
property_value: closeMatch http://identifiers.org/mesh/D014523
property_value: closeMatch http://identifiers.org/snomedct/126883004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041971
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154019
property_value: exactMatch DOID:730
property_value: exactMatch http://identifiers.org/snomedct/92466006
property_value: exactMatch NCIT:C3619

[Term]
id: MONDO:0004178
name: testicular yolk sac tumor, endodermal sinus pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." [NCIT:C39927]
synonym: "endodermal sinus pattern testicular yolk sac tumor" RELATED [DOID:7302]
synonym: "testicular yolk sac tumor, endodermal sinus pattern" EXACT [NCIT:C39927]
xref: DOID:7302 {source="MONDO:equivalentTo"}
xref: NCIT:C39927 {source="DOID:7302", source="MONDO:equivalentTo", source="NCIT:C39927"}
xref: UMLS:C1515303 {source="DOID:7302", source="MONDO:equivalentTo", source="NCIT:C39927"}
is_a: MONDO:0003402 {source="DOID:7302", source="MONDOLEX:0004178", source="NCIT:C39927"} ! testicular yolk sac tumor
property_value: exactMatch DOID:7302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515303
property_value: exactMatch NCIT:C39927

[Term]
id: MONDO:0004179
name: obsolete astroblastoma
is_obsolete: true
replaced_by: MONDO:0016707

[Term]
id: MONDO:0004180
name: benign urinary system neoplasm
def: "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." [NCIT:C4893]
synonym: "benign neoplasm of the urinary tract" EXACT [NCIT:C4893]
synonym: "benign neoplasm of urinary tract" EXACT [NCIT:C4893]
synonym: "benign tumor of the urinary tract" EXACT [NCIT:C4893]
synonym: "benign tumor of urinary tract" EXACT [NCIT:C4893]
synonym: "benign urinary system neoplasm" EXACT [NCIT:C4893]
synonym: "benign urinary tract neoplasm" EXACT [NCIT:C4893]
synonym: "benign urinary tract tumor" EXACT [NCIT:C4893]
synonym: "neoplasm of urinary system" BROAD [DOID:731]
synonym: "renal system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of the urinary system" BROAD [DOID:731, NCIT:C3431]
synonym: "tumor of urinary tract" BROAD [DOID:731]
synonym: "urinary system benign neoplasm" RELATED [DOID:731]
synonym: "urinary tract neoplasm" BROAD [CSP2005:2021-0179, DOID:731]
xref: COHD:78706 {source="MONDO:equivalentTo"}
xref: DOID:731 {source="MONDO:equivalentTo"}
xref: ICD9:223.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:223.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014571 {source="DOID:731", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4893 {source="MONDO:equivalentTo"}
xref: SCTID:92468007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005165 {source="DOID:731", source="DOID:731/inferred", source="MONDO:Redundant", source="MONDOLEX:0004180", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm
is_a: MONDO:0021066 {source="MONDO:Redundant", source="MONDOLEX:0004180", source="NCIT:C4893", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/254913005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042076
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496893
property_value: exactMatch DOID:731
property_value: exactMatch http://identifiers.org/mesh/D014571
property_value: exactMatch http://identifiers.org/snomedct/92468007
property_value: exactMatch NCIT:C4893

[Term]
id: MONDO:0004181
name: breast adenomyoepithelial adenosis
def: "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present." [NCIT:P378]
xref: DOID:7312 {source="MONDO:equivalentTo"}
xref: NCIT:C40391 {source="DOID:7312", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1511283 {source="DOID:7312", source="NCIT:C40391", source="MONDO:equivalentTo"}
is_a: MONDO:0003725 {source="DOID:7312", source="NCIT:C40391"} ! breast adenosis
property_value: exactMatch DOID:7312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511283
property_value: exactMatch NCIT:C40391

[Term]
id: MONDO:0004182
name: stage IVb bladder cancer
def: "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis." [NCIT:C9368]
comment: Editor note: consider obsoleting or moving to stage
synonym: "Jewett-Marshall bladder cancer" RELATED [DOID:7315]
synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [DOID:7315]
synonym: "Jewett-Marshall stage D2 bladder cancer" EXACT [DOID:7315, NCIT:C9368]
synonym: "Jewett-Marshall stage D2 urinary bladder cancer" EXACT [NCIT:C9368]
synonym: "Jewett-Marshall stage D2 urinary bladder carcinoma" EXACT [NCIT:C9368]
synonym: "stage IVB bladder cancer" EXACT [NCIT:C9368]
synonym: "stage IVB urinary bladder cancer" EXACT [NCIT:C9368]
synonym: "stage IVB urinary bladder carcinoma" EXACT [DOID:7315, NCIT:C9368]
xref: DOID:7315 {source="MONDO:equivalentTo"}
xref: NCIT:C9368 {source="DOID:7315", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: UMLS:C1336362 {source="DOID:7315", source="NCIT:C9368", source="MONDO:equivalentTo"}
is_a: MONDO:0004986 {source="DOID:7315", source="MONDOLEX:0004182"} ! urinary bladder carcinoma
property_value: exactMatch DOID:7315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336362
property_value: exactMatch NCIT:C9368

[Term]
id: MONDO:0004183
name: axonal neuropathy
def: "Any nerve disorder affecting the axon of a nerve." [NCIT:C27301]
synonym: "axon peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "axonal neuropathy" EXACT [NCIT:C27301]
synonym: "peripheral neuropathy of axon" EXACT [MONDO:design_pattern]
xref: DOID:7319 {source="MONDO:equivalentTo"}
xref: NCIT:C27301 {source="DOID:7319", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:60703000 {source="DOID:7319", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0270921 {source="NCIT:C27301", source="DOID:7319", source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="DOID:7319", source="MONDO:Redundant", source="MONDOLEX:0004183", source="NCIT:C27301", source="linkedlifedata"} ! peripheral neuropathy
property_value: exactMatch DOID:7319
property_value: exactMatch http://identifiers.org/snomedct/60703000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270921
property_value: exactMatch NCIT:C27301

[Term]
id: MONDO:0004184
name: urethral disease
def: "A disease involving the urethra." [MONDO:DesignPattern]
synonym: "disease of urethra" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of urethra" EXACT []
synonym: "disorder of urethra" EXACT [MONDO:patterns/location_top]
synonym: "disorder of urethra" RELATED [MONDO:patterns/location_top]
synonym: "urethra disease" EXACT [DOID:732, MONDO:patterns/location, NCIT:C26903]
synonym: "urethra disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethra disorder" EXACT [NCIT:C26903]
xref: DOID:732 {source="MONDO:equivalentTo"}
xref: ICD10:N36.9 {source="DOID:732"}
xref: MESH:D014522 {source="DOID:732", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26903 {source="DOID:732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:4985009 {source="DOID:732", source="MONDO:equivalentTo"}
xref: UMLS:C0041969 {source="DOID:732", source="MONDO:equivalentTo", source="NCIT:C26903"}
is_a: MONDO:0002118 {source="DOID:732", source="MESH:D014522", source="MONDO:Redundant", source="NCIT:C26903", source="linkedlifedata/inferred"} ! urinary system disease
property_value: closeMatch http://identifiers.org/snomedct/197945001
property_value: closeMatch http://identifiers.org/snomedct/198551002
property_value: exactMatch DOID:732
property_value: exactMatch http://identifiers.org/mesh/D014522
property_value: exactMatch http://identifiers.org/snomedct/4985009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041969
property_value: exactMatch NCIT:C26903

[Term]
id: MONDO:0004185
name: ovarian serous cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." [NCIT:C40032]
synonym: "ovarian serous cystadenofibroma" EXACT [NCIT:C40032]
synonym: "ovary serous cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:7320 {source="MONDO:equivalentTo"}
xref: NCIT:C40032 {source="MONDO:equivalentTo", source="DOID:7320", source="exact-label-match"}
xref: UMLS:C0877572 {source="MONDO:equivalentTo", source="NCIT:C40032", source="DOID:7320"}
is_a: MONDO:0003464 {source="MONDOLEX:0004185", source="NCIT:C40032"} ! cystadenofibroma
is_a: MONDO:0005182 ! serous cystadenofibroma
is_a: MONDO:0006340 {source="DOID:7320", source="NCIT:C40032"} ! ovarian serous adenofibroma
property_value: exactMatch DOID:7320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877572
property_value: exactMatch NCIT:C40032

[Term]
id: MONDO:0004186
name: cranial nodular fasciitis
def: "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C27248]
synonym: "cranial nodular fasciitis" EXACT [NCIT:C27248]
synonym: "cranial pseudosarcomatous fasciitis" EXACT [NCIT:C27248]
xref: DOID:7326 {source="MONDO:equivalentTo"}
xref: NCIT:C27248 {source="DOID:7326", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C1333162 {source="DOID:7326", source="MONDO:equivalentTo", source="NCIT:C27248"}
is_a: MONDO:0004187 {source="DOID:7326", source="MONDO:Redundant", source="MONDOLEX:0004186", source="NCIT:C27248"} ! nodular fasciitis
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch DOID:7326
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333162
property_value: exactMatch NCIT:C27248

[Term]
id: MONDO:0004187
name: nodular fasciitis
def: "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827]
subset: ordo_disease {source="Orphanet:477742"}
synonym: "fasciitis - nodular" EXACT [DOID:7327]
synonym: "nodular fasciitis" EXACT [DOID:7327, MONDO:0018785, MTHICD9_2006:728.79, NCIT:C3827]
synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, NCIT:C3827, Orphanet:477742]
synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742]
xref: DOID:7327 {source="MONDO:equivalentTo"}
xref: ICD10:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3827 {source="DOID:7327", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:477742 {source="MONDO:equivalentTo"}
xref: SCTID:400138001 {source="DOID:7327", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0410005 {source="NCIT:C3827", source="DOID:7327", source="MONDO:equivalentTo"}
is_a: MONDO:0004830 {source="DOID:7327", source="linkedlifedata"} ! fasciitis (disease)
is_a: MONDO:0006209 {source="NCIT:C3827", source="NCIT:C3827/inferred"} ! fibroblastic neoplasm
is_a: MONDO:0006424 {source="Orphanet:477742"} ! soft tissue neoplasm
is_a: MONDO:0019296 {source="Orphanet:477742"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156729009
property_value: closeMatch http://identifiers.org/snomedct/203057005
property_value: closeMatch http://identifiers.org/snomedct/268106003
property_value: closeMatch http://identifiers.org/snomedct/35548007
property_value: closeMatch http://identifiers.org/snomedct/47284001
property_value: closeMatch http://identifiers.org/snomedct/703616008
property_value: exactMatch DOID:7327
property_value: exactMatch http://identifiers.org/snomedct/400138001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410005
property_value: exactMatch NCIT:C3827
property_value: exactMatch Orphanet:477742

[Term]
id: MONDO:0004188
name: iris spindle cell melanoma
def: "A spindle cell melanoma that involves the iris." [MONDO:patterns/location]
synonym: "iris spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of iris" EXACT [NCIT:C6098]
synonym: "spindle cell melanoma of the iris" EXACT [NCIT:C6098]
xref: DOID:7328 {source="MONDO:equivalentTo"}
xref: NCIT:C6098 {source="DOID:7328", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/23.04"}
xref: UMLS:C1334287 {source="NCIT:C6098", source="DOID:7328", source="MONDO:equivalentTo"}
is_a: MONDO:0003744 {source="DOID:7328", source="NCIT:C6098"} ! spindle cell intraocular melanoma
is_a: MONDO:0004064 {source="DOID:7328", source="MONDO:Redundant", source="MONDOLEX:0004188", source="NCIT:C6098"} ! iris melanoma
property_value: exactMatch DOID:7328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334287
property_value: exactMatch NCIT:C6098

[Term]
id: MONDO:0004189
name: esophageal tuberculosis
def: "A tuberculosis that involves the esophagus." [MONDO:patterns/location]
synonym: "esophagus tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of esophagus" EXACT [DOID:7332]
xref: DOID:7332 {source="MONDO:equivalentTo"}
xref: ICD9:017.8 {source="DOID:7332"}
xref: ICD9:017.80 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:017.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:017.83 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:15284007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:7332"}
xref: UMLS:C0152902 {source="MONDO:equivalentTo", source="DOID:7332"}
is_a: MONDO:0003749 {source="DOID:7332", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! esophageal disease
is_a: MONDO:0005768 {source="DOID:7332"} ! gastrointestinal tuberculosis
property_value: exactMatch DOID:7332
property_value: exactMatch http://identifiers.org/snomedct/15284007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152902

[Term]
id: MONDO:0004190
name: nephrogenic adenoma of urinary bladder
def: "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." [NCIT:P378]
synonym: "nephrogenic adenoma of the urinary bladder" EXACT [DOID:7333, NCIT:C7415]
synonym: "urinary bladder nephrogenic adenoma" EXACT [MONDO:patterns/location]
xref: DOID:7333 {source="MONDO:equivalentTo"}
xref: NCIT:C7415 {source="MONDO:equivalentTo", source="DOID:7333", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336892 {source="MONDO:equivalentTo", source="NCIT:C7415", source="DOID:7333"}
is_a: MONDO:0000384 {source="DOID:7333", source="MONDO:Entailed", source="MONDO:Redundant"} ! bladder benign neoplasm
is_a: MONDO:0004191 {source="DOID:7333", source="MONDO:Redundant", source="NCIT:C7415"} ! nephrogenic adenoma
property_value: exactMatch DOID:7333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336892
property_value: exactMatch NCIT:C7415

[Term]
id: MONDO:0004191
name: nephrogenic adenoma
def: "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." [NCIT:C7413]
synonym: "nephrogenic adenoma" EXACT [NCIT:C7413]
xref: DOID:7334 {source="MONDO:equivalentTo"}
xref: NCIT:C7413 {source="DOID:7334", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0334039 {source="DOID:7334", source="MONDO:equivalentTo"}
is_a: MONDO:0002513 {source="DOID:7334"} ! kidney benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/78236000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0545047
property_value: exactMatch DOID:7334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334039
property_value: exactMatch NCIT:C7413
property_value: exactMatch NCIT:C97097

[Term]
id: MONDO:0004192
name: urethra cancer
def: "A malignant neoplasm involving the urethra" [MONDO:DesignPattern]
synonym: "cancer of urethra" EXACT [DOID:734, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the urethra" EXACT [NCIT:C7507]
synonym: "malignant neoplasm of urethra" EXACT [MONDO:patterns/cancer, NCIT:C7507]
synonym: "malignant tumor of the urethra" EXACT [NCIT:C7507]
synonym: "malignant tumor of urethra" EXACT [NCIT:C7507]
synonym: "malignant tumour of urethra" EXACT [DOID:734]
synonym: "malignant urethra neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7507]
synonym: "malignant urethra tumor" EXACT [NCIT:C7507]
synonym: "malignant urethral neoplasm" EXACT [DOID:734, NCIT:C7507]
synonym: "malignant urethral tumor" EXACT [NCIT:C7507]
synonym: "urethra cancer" EXACT [MONDO:patterns/location]
synonym: "urethral Ca" EXACT [DOID:734]
synonym: "urethral cancer" RELATED [ONCOTREE:UCA]
xref: DOID:734 {source="MONDO:equivalentTo"}
xref: GARD:0009390 {source="MONDO:equivalentTo"}
xref: ICD10:C68.0 {source="DOID:734", source="MONDO:equivalentTo"}
xref: ICD9:189.3 {source="DOID:734", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7507 {source="DOID:734", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:UCA {source="MONDO:equivalentTo"}
xref: SCTID:363459007 {source="DOID:734", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.80/0.51"}
is_a: MONDO:0006295 {source="DOID:734", source="ICD10:C68.0/inferred", source="MONDO:Redundant", source="NCIT:C7507"} ! malignant urinary system neoplasm
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C7507"} ! urethra neoplasm
property_value: closeMatch http://identifiers.org/mesh/D014523
property_value: closeMatch http://identifiers.org/snomedct/154544009
property_value: closeMatch http://identifiers.org/snomedct/94123008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153620
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700101
property_value: exactMatch DOID:734
property_value: exactMatch http://identifiers.org/snomedct/363459007
property_value: exactMatch NCIT:C7507

[Term]
id: MONDO:0004193
name: pediatric ovarian dysgerminoma
def: "A dysgerminoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood dysgerminoma" EXACT [NCIT:C6550]
synonym: "childhood dysgerminoma of ovary" EXACT []
synonym: "childhood ovarian dysgerminoma" EXACT [NCIT:C6550]
synonym: "childhood ovarian germinomatous germ cell tumor" EXACT [NCIT:C6550]
synonym: "dysgerminoma of ovary of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric dysgerminoma of ovary" EXACT [MONDO:patterns/childhood]
synonym: "pediatric dysgerminoma of ovary" RELATED [MONDO:patterns/childhood]
xref: DOID:7340 {source="MONDO:equivalentTo"}
xref: NCIT:C6550 {source="MONDO:equivalentTo", source="DOID:7340", source="MONDO:kboom-pr-0.96/0.92/0.09"}
xref: UMLS:C1332988 {source="NCIT:C6550", source="MONDO:equivalentTo", source="DOID:7340"}
is_a: MONDO:0003481 {source="DOID:7340", source="MONDOLEX:0004193", source="NCIT:C6550"} ! dysgerminoma of ovary
is_a: MONDO:0003760 {source="DOID:7340", source="NCIT:C6550/inferred"} ! pediatric ovarian germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
property_value: exactMatch DOID:7340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332988
property_value: exactMatch NCIT:C6550

[Term]
id: MONDO:0004194
name: ovarian stromal hyperthecosis
def: "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels." [NCIT:P378]
xref: DOID:7347 {source="MONDO:equivalentTo"}
xref: NCIT:C40446 {source="DOID:7347", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1518743 {source="NCIT:C40446", source="DOID:7347", source="MONDO:equivalentTo"}
is_a: MONDO:0005558 {source="DOID:7347", source="NCIT:C40446/inferred"} ! ovarian disease
property_value: exactMatch DOID:7347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518743
property_value: exactMatch NCIT:C40446

[Term]
id: MONDO:0004195
name: thymic dysplasia
def: "The developmental arrest and architectural distortion of the thymus that results in immunodeficiency." [NCIT:P378]
xref: DOID:7350 {source="MONDO:equivalentTo"}
xref: NCIT:C27802 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7350"}
xref: UMLS:C1331541 {source="MONDO:equivalentTo", source="NCIT:C27802", source="DOID:7350"}
is_a: MONDO:0003393 {source="DOID:7350", source="NCIT:C27802", source="NCIT:C27802/inferred"} ! thymus gland disease
property_value: exactMatch DOID:7350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331541
property_value: exactMatch NCIT:C27802

[Term]
id: MONDO:0004196
name: rectal sarcomatoid carcinoma
def: "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component." [NCIT:C5556]
synonym: "rectal sarcomatoid cancer" EXACT [NCIT:C5556]
synonym: "rectal sarcomatoid carcinoma" EXACT [NCIT:C5556]
synonym: "rectal spindle cell carcinoma" EXACT [NCIT:C5556]
synonym: "rectum sarcomatoid carcinoma" EXACT [DOID:7356, MONDO:patterns/location]
synonym: "sarcomatoid carcinoma of rectum" EXACT [DOID:7356, NCIT:C5556]
synonym: "sarcomatoid carcinoma of the rectum" EXACT [NCIT:C5556]
xref: DOID:7356 {source="MONDO:equivalentTo"}
xref: NCIT:C5556 {source="DesignPattern", source="DOID:7356", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335689 {source="DOID:7356", source="MONDO:equivalentTo", source="NCIT:C5556"}
is_a: MONDO:0006406 {source="DOID:7356", source="MONDO:Redundant", source="NCIT:C5556/inferred"} ! sarcomatoid carcinoma
is_a: MONDO:0044937 ! rectal carcinoma
relationship: excluded_subClassOf MONDO:0018515 {source="DOID:7356"} ! squamous cell carcinoma of rectum
property_value: exactMatch DOID:7356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335689
property_value: exactMatch NCIT:C5556

[Term]
id: MONDO:0004197
name: male urethral cancer
def: "A cancer involving a male urethra." [MONDO:patterns/cancer]
synonym: "cancer of male urethra" EXACT [MONDO:patterns/cancer]
synonym: "male urethra cancer" EXACT [MONDO:patterns/location]
synonym: "Male urethral malignant neoplasm" EXACT [NCIT:C39867]
synonym: "malignant male urethra neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of male urethra" EXACT [MONDO:patterns/cancer]
xref: DOID:736 {source="MONDO:equivalentTo"}
xref: NCIT:C39867 {source="DOID:736", source="MONDO:equivalentTo"}
xref: UMLS:C1518164 {source="DOID:736", source="MONDO:equivalentTo", source="NCIT:C39867"}
is_a: MONDO:0004192 {source="DOID:736", source="MONDO:Redundant", source="MONDOLEX:0004197", source="NCIT:C39867"} ! urethra cancer
property_value: exactMatch DOID:736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518164
property_value: exactMatch NCIT:C39867

[Term]
id: MONDO:0004198
name: testicular yolk sac tumor, solid pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." [NCIT:C39925]
synonym: "solid pattern testicular yolk sac tumor" RELATED [DOID:7360]
synonym: "testicular yolk sac tumor, solid pattern" EXACT [NCIT:C39925]
xref: DOID:7360 {source="MONDO:equivalentTo"}
xref: NCIT:C39925 {source="MONDO:equivalentTo", source="DOID:7360", source="NCIT:C39925"}
xref: UMLS:C1515312 {source="MONDO:equivalentTo", source="DOID:7360", source="NCIT:C39925"}
is_a: MONDO:0003402 {source="DOID:7360", source="MONDOLEX:0004198", source="NCIT:C39925"} ! testicular yolk sac tumor
property_value: exactMatch DOID:7360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515312
property_value: exactMatch NCIT:C39925

[Term]
id: MONDO:0004199
name: vulvar keratinizing squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls." [NCIT:C40284]
synonym: "vulvar keratinizing squamous cell carcinoma" EXACT [NCIT:C40284]
xref: DOID:7363 {source="MONDO:equivalentTo"}
xref: NCIT:C40284 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7363"}
xref: UMLS:C2109334 {source="MONDO:equivalentTo", source="NCIT:C40284"}
is_a: MONDO:0005056 {source="MONDO:Redundant", source="MONDOLEX:0004199", source="NCIT:C40284"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0024609 {source="DOID:7363", source="MONDO:Redundant", source="NCIT:C40284"} ! vulvar squamous cell carcinoma
property_value: exactMatch DOID:7363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2109334
property_value: exactMatch NCIT:C40284

[Term]
id: MONDO:0004200
name: superficial urinary bladder carcinoma
def: "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade." [NCIT:P378]
synonym: "superficial bladder cancer" EXACT [NCIT:C27474]
synonym: "superficial bladder carcinoma" EXACT [NCIT:C27474]
synonym: "superficial urinary bladder cancer" EXACT [DOID:7371, NCIT:C27474]
synonym: "superficial urinary bladder carcinoma" EXACT [NCIT:C27474]
xref: DOID:7371 {source="MONDO:equivalentTo"}
xref: NCIT:C27474 {source="MONDO:equivalentTo", source="DOID:7371", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:425231005 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo", source="DOID:7371"}
xref: UMLS:C1336527 {source="NCIT:C27474", source="MONDO:equivalentTo", source="DOID:7371"}
is_a: MONDO:0004986 {source="DOID:7371", source="MONDOLEX:0004200", source="NCIT:C27474"} ! urinary bladder carcinoma
property_value: exactMatch DOID:7371
property_value: exactMatch http://identifiers.org/snomedct/425231005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336527
property_value: exactMatch NCIT:C27474

[Term]
id: MONDO:0004201
name: pituitary hypoplasia
def: "Incomplete development of the pituitary gland." [NCIT:C27343]
synonym: "pituitary gland hypoplasia" RELATED [NCIT:C27343]
synonym: "pituitary hypoplasia" EXACT [NCIT:C27343]
xref: DOID:7378 {source="MONDO:equivalentTo"}
xref: NCIT:C27343 {source="DOID:7378", source="NCIT:C27343", source="MONDO:equivalentTo"}
xref: UMLS:C0948740 {source="DOID:7378", source="NCIT:C27343", source="MONDO:equivalentTo"}
is_a: MONDO:0003381 {source="DOID:7378", source="NCIT:C27343/inferred"} ! pituitary gland disease
property_value: exactMatch DOID:7378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948740
property_value: exactMatch NCIT:C27343

[Term]
id: MONDO:0004202
name: adrenal medulla carcinoma
def: "A carcinoma that arises from epithelial cells of the adrenal medulla" [MONDO:DesignPattern]
synonym: "adrenal medulla carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of adrenal medulla" EXACT [MONDO:patterns/carcinoma]
xref: DOID:7379 {source="MONDO:equivalentTo"}
is_a: MONDO:0002814 ! adrenal carcinoma
is_a: MONDO:0003606 {source="DOID:7379", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal medulla cancer
property_value: exactMatch DOID:7379

[Term]
id: MONDO:0004203
name: female urethral cancer
def: "A cancer that involves the female urethra." [MONDO:patterns/location]
synonym: "cancer of female urethra" EXACT [MONDO:patterns/cancer]
synonym: "female urethra cancer" EXACT [MONDO:patterns/location]
synonym: "female urethral malignant neoplasm" EXACT [NCIT:C39866]
synonym: "malignant female urethra neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of female urethra" EXACT [MONDO:patterns/cancer]
xref: DOID:738 {source="MONDO:equivalentTo"}
xref: NCIT:C39866 {source="DOID:738", source="MONDO:equivalentTo"}
xref: UMLS:C1517154 {source="MEDGEN:kboom-pr98-c99", source="DOID:738", source="MONDO:equivalentTo", source="NCIT:C39866"}
is_a: MONDO:0004192 {source="DOID:738", source="MONDO:Redundant", source="MONDOLEX:0004203", source="NCIT:C39866"} ! urethra cancer
property_value: exactMatch DOID:738
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517154
property_value: exactMatch NCIT:C39866

[Term]
id: MONDO:0004204
name: squamous cell skin papilloma
def: "A squamous papilloma that involves the zone of skin." [MONDO:patterns/location]
synonym: "Dyskeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "Dyskeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "Dyskeratotic skin papilloma" EXACT [NCIT:C4462]
synonym: "hyperkeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "hyperkeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "hyperkeratotic skin papilloma" EXACT [NCIT:C4462]
synonym: "parakeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "parakeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "parakeratotic skin papilloma" EXACT [DOID:7380, NCIT:C4462]
synonym: "squamous cell papilloma of skin" EXACT [NCIT:C4462]
synonym: "squamous cell papilloma of the skin" EXACT [NCIT:C4462]
synonym: "squamous cell skin papilloma" EXACT [NCIT:C4462]
synonym: "zone of skin squamous papilloma" EXACT [MONDO:patterns/location]
xref: DOID:7380 {source="MONDO:equivalentTo"}
xref: NCIT:C4462 {source="DOID:7380", source="MONDO:equivalentTo"}
xref: SCTID:254661000 {source="DOID:7380", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0345983 {source="NCIT:C4462", source="DOID:7380", source="MONDO:equivalentTo"}
is_a: MONDO:0001825 {source="DOID:7380", source="MONDO:Redundant", source="MONDOLEX:0004204", source="NCIT:C4462"} ! squamous papilloma
is_a: MONDO:0002536 {source="DOID:7380", source="MONDO:Redundant", source="MONDOLEX:0004204", source="NCIT:C4462"} ! skin papilloma
property_value: exactMatch DOID:7380
property_value: exactMatch http://identifiers.org/snomedct/254661000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345983
property_value: exactMatch NCIT:C4462

[Term]
id: MONDO:0004205
name: lymphohistiocytoid mesothelioma
xref: DOID:7381 {source="MONDO:equivalentTo"}
xref: NCIT:C27779 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:7381"}
xref: UMLS:C1334464 {source="MONDO:equivalentTo", source="DOID:7381", source="NCIT:C27779"}
is_a: MONDO:0006407 {source="NCIT:C27779"} ! sarcomatoid mesothelioma
relationship: excluded_subClassOf MONDO:0005112 {source="DOID:7381"} ! malignant pleural mesothelioma
property_value: exactMatch DOID:7381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334464
property_value: exactMatch NCIT:C27779

[Term]
id: MONDO:0004206
name: pulmonary vein leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5374]
synonym: "leiomyosarcoma of pulmonary vein" EXACT [NCIT:C5374]
synonym: "leiomyosarcoma of the pulmonary vein" EXACT [DOID:7388, NCIT:C5374]
synonym: "pulmonary vein leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:7388 {source="MONDO:equivalentTo"}
xref: NCIT:C5374 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7388"}
xref: UMLS:C1335575 {source="NCIT:C5374", source="MONDO:equivalentTo", source="DOID:7388"}
is_a: MONDO:0004634 {source="DOID:7388", source="MONDO:Entailed", source="MONDO:Redundant"} ! vein disease
is_a: MONDO:0005058 ! leiomyosarcoma
is_a: MONDO:0016982 ! angiosarcoma (disease)
is_a: MONDO:0040676 ! great vessel cancer
relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7388"} ! pulmonary artery leiomyosarcoma
property_value: exactMatch DOID:7388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335575
property_value: exactMatch NCIT:C5374

[Term]
id: MONDO:0004207
name: pulmonary artery leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5373]
synonym: "leiomyosarcoma of pulmonary artery" EXACT [NCIT:C5373]
synonym: "leiomyosarcoma of the pulmonary artery" EXACT [DOID:7389, NCIT:C5373]
synonym: "pulmonary artery leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:7389 {source="MONDO:equivalentTo"}
xref: NCIT:C5373 {source="DOID:7389", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335572 {source="DOID:7389", source="NCIT:C5373", source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0005058 {source="DOID:7389", source="MONDO:Redundant", source="NCIT:C5373/inferred"} ! leiomyosarcoma
is_a: MONDO:0016982 ! angiosarcoma (disease)
is_a: MONDO:0040676 ! great vessel cancer
property_value: exactMatch DOID:7389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335572
property_value: exactMatch NCIT:C5373

[Term]
id: MONDO:0004208
name: superior vena cava leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6745]
synonym: "anterior vena cava leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of anterior vena cava" EXACT []
synonym: "leiomyosarcoma of Superior vena cava" EXACT [NCIT:C6745]
synonym: "leiomyosarcoma of the Superior vena cava" EXACT [DOID:7390, NCIT:C6745]
xref: DOID:7390 {source="MONDO:equivalentTo"}
xref: NCIT:C6745 {source="MONDO:equivalentTo", source="DOID:7390", source="exact-label-match"}
xref: UMLS:C1336531 {source="MONDO:equivalentTo", source="DOID:7390", source="NCIT:C6745"}
is_a: MONDO:0003032 ! superior vena cava angiosarcoma
is_a: MONDO:0005058 ! leiomyosarcoma
relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7390"} ! pulmonary artery leiomyosarcoma
property_value: exactMatch DOID:7390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336531
property_value: exactMatch NCIT:C6745

[Term]
id: MONDO:0004209
name: cerebral primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." [NCIT:P378]
synonym: "cerebral embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C4970]
synonym: "cerebral embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C4970]
synonym: "cerebral hemisphere PNET" EXACT [NCIT:C4970]
synonym: "cerebral hemisphere primitive neuroectodermal neoplasm" EXACT [NCIT:C4970]
synonym: "cerebral hemisphere primitive neuroectodermal tumor" EXACT [NCIT:C4970]
synonym: "cerebral PNET" EXACT [NCIT:C4970]
synonym: "cerebral primitive neuroectodermal neoplasm" EXACT [NCIT:C4970]
synonym: "cerebral primitive neuroectodermal tumor" EXACT [NCIT:C4970]
synonym: "PNET of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "PNET of cerebrum" EXACT [DOID:7398, NCIT:C4970]
synonym: "PNET of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "PNET of the cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of the cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of the cerebrum" EXACT [NCIT:C4970]
xref: DOID:7398 {source="MONDO:equivalentTo"}
xref: NCIT:C4970 {source="MONDO:equivalentTo", source="DOID:7398", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751675 {source="MONDO:equivalentTo", source="NCIT:C4970", source="DOID:7398"}
is_a: MONDO:0002731 {source="DOID:7398", source="MONDOLEX:0004209", source="NCIT:C4970"} ! cerebral hemisphere cancer
is_a: MONDO:0003145 {source="NCIT:C4970"} ! supratentorial primitive neuroectodermal tumor
property_value: closeMatch http://identifiers.org/mesh/D018242
property_value: exactMatch DOID:7398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751675
property_value: exactMatch NCIT:C4970

[Term]
id: MONDO:0004210
name: colonic L-cell glucagon-like peptide producing tumor
def: "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27447]
synonym: "colon L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27447]
synonym: "colon L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:patterns/location, NCIT:C27447]
synonym: "colonic L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27447]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of colon" EXACT [MONDO:design_pattern]
xref: DOID:7401 {source="MONDO:equivalentTo"}
xref: NCIT:C27447 {source="DOID:7401", source="MONDO:equivalentTo"}
xref: UMLS:C3274139 {source="DOID:7401", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27447"}
is_a: MONDO:0004211 ! L-cell glucagon-like peptide-producing neuroendocrine tumor
is_a: MONDO:0015067 {source="MONDO:Redundant", source="NCIT:C27447"} ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
property_value: exactMatch DOID:7401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274139
property_value: exactMatch NCIT:C27447

[Term]
id: MONDO:0004211
name: L-cell glucagon-like peptide-producing neuroendocrine tumor
def: "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27448]
synonym: "L-cell glucagon-like peptide producing tumor" RELATED [DOID:7402]
synonym: "L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27448]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27448]
xref: DOID:7402 {source="MONDO:equivalentTo"}
xref: ICDO:8152/1 {source="NCIT:C27448"}
xref: NCIT:C27448 {source="DOID:7402", source="MONDO:equivalentTo"}
xref: UMLS:C3274140 {source="MEDGEN:kboom-pr98-c99", source="DOID:7402", source="MONDO:equivalentTo", source="NCIT:C27448"}
is_a: MONDO:0000386 {source="NCIT:C27448"} ! digestive system neuroendocrine tumor, grade 1/2
relationship: excluded_subClassOf MONDO:0002891 {source="DOID:7402"} ! obsolete gastrointestinal neuroendocrine benign tumor
property_value: exactMatch DOID:7402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274140
property_value: exactMatch NCIT:C27448

[Term]
id: MONDO:0004212
name: vulvar keratoacanthoma-like carcinoma
def: "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." [NCIT:C40288]
synonym: "vulvar squamous cell carcinoma, keratoacanthoma type" EXACT [NCIT:C40288]
xref: DOID:7408 {source="MONDO:equivalentTo"}
xref: NCIT:C40288 {source="MONDO:equivalentTo", source="DOID:7408", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1520086 {source="MONDO:equivalentTo", source="DOID:7408", source="NCIT:C40288"}
is_a: MONDO:0024609 {source="DOID:7408", source="MONDOLEX:0004212", source="NCIT:C40288"} ! vulvar squamous cell carcinoma
property_value: exactMatch DOID:7408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520086
property_value: exactMatch NCIT:C40288

[Term]
id: MONDO:0004213
name: vulvar non-keratinizing squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls." [NCIT:P378]
xref: DOID:7409 {source="MONDO:equivalentTo"}
xref: NCIT:C40285 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:7409"}
xref: UMLS:C1520092 {source="MONDO:equivalentTo", source="DOID:7409", source="NCIT:C40285"}
is_a: MONDO:0024609 {source="DOID:7409", source="NCIT:C40285"} ! vulvar squamous cell carcinoma
disjoint_from: MONDO:0005056 ! keratinizing squamous cell carcinoma
property_value: exactMatch DOID:7409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520092
property_value: exactMatch NCIT:C40285

[Term]
id: MONDO:0004214
name: ovarian endometrioid cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27288]
synonym: "ovarian endometrioid cystadenofibroma" EXACT [NCIT:C27288]
xref: DOID:7411 {source="MONDO:equivalentTo"}
xref: NCIT:C27288 {source="DOID:7411", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335158 {source="DOID:7411", source="NCIT:C27288", source="MONDO:equivalentTo"}
is_a: MONDO:0003463 {source="DOID:7411", source="MONDO:Redundant", source="NCIT:C27288"} ! ovarian endometrioid adenofibroma
is_a: MONDO:0003464 {source="MONDO:Redundant", source="MONDOLEX:0004214", source="NCIT:C27288"} ! cystadenofibroma
intersection_of: MONDO:0003463 {source="NCIT:C27288"} ! ovarian endometrioid adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C27288"} ! cystadenofibroma
property_value: exactMatch DOID:7411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335158
property_value: exactMatch NCIT:C27288

[Term]
id: MONDO:0004215
name: cutaneous anthrax
def: "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center." [DOID:7426, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous]
subset: gard_rare {source="GARD:0008158"}
synonym: "anthrax, skin type" RELATED [GARD:0008158]
synonym: "skin anthrax" RELATED [GARD:0008158]
xref: DOID:7426 {source="MONDO:equivalentTo"}
xref: GARD:0008158 {source="MONDO:equivalentTo"}
xref: ICD10:A22.0 {source="DOID:7426", source="MONDO:equivalentTo"}
xref: ICD9:022.0 {source="DOID:7426", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C531621 {source="DOID:7426", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:84980006 {source="DOID:7426", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003177 {source="DOID:7426", source="MONDO:equivalentTo"}
is_a: MONDO:0005119 {source="DOID:7426", source="MESH:C531621", source="MONDO:Redundant", source="linkedlifedata"} ! anthrax infection
is_a: MONDO:0024295 {source="MESH:C531621", source="MONDO:Redundant"} ! skin disease caused by bacterial infection
property_value: exactMatch DOID:7426
property_value: exactMatch http://identifiers.org/mesh/C531621
property_value: exactMatch http://identifiers.org/snomedct/84980006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003177
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax xsd:anyURI {source="GARD:0008158"}

[Term]
id: MONDO:0004216
name: pineal region germinoma
def: "A germinoma that arises from the pineal gland." [NCIT:P378]
comment: Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency
synonym: "germinoma" EXACT [NCIT:C8712]
synonym: "pineal germinoma" EXACT [NCIT:C8712]
xref: DOID:7428 {source="MONDO:equivalentTo"}
xref: GARD:0002005 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MEDGEN:208928 {source="UMLS:C0854912"}
xref: NCIT:C8712 {source="MONDO:equivalentTo", source="DOID:7428", source="MONDO:kboom-pr-1.00/0.86/12.43", source="UMLS:C0854912"}
xref: Orphanet:91352 {source="MONDO:equivalentTo"}
xref: UMLS:C0854912 {source="MONDO:equivalentTo", source="DOID:7428", source="NCIT:C8712"}
is_a: MONDO:0002073 {source="DOID:7428", source="MONDO:Redundant", source="NCIT:C8712"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0002214 {source="MONDO:Redundant", source="NCIT:C8712"} ! brain germinoma
is_a: MONDO:0016738 {source="Orphanet:91352"} ! primary germ cell tumor of central nervous system
relationship: disease_has_feature MONDO:0019833 {source="Orphanet:91352-modifier"} ! pituitary hormone deficiency from tumoral origin
property_value: closeMatch http://identifiers.org/medgen/208928
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333813
property_value: exactMatch DOID:7428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854912
property_value: exactMatch NCIT:C8712
property_value: exactMatch Orphanet:91352

[Term]
id: MONDO:0004217
name: childhood brain germinoma
def: "A germinoma arising from the brain during childhood." [NCIT:P378]
synonym: "brain germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "germinoma of childhood brain" EXACT [NCIT:C6207]
synonym: "germinoma of pediatric brain" EXACT [NCIT:C6207]
synonym: "germinoma of the childhood brain" EXACT [NCIT:C6207]
synonym: "germinoma of the pediatric brain" EXACT [DOID:7429, NCIT:C6207]
synonym: "pediatric brain germ cell cancer" EXACT [NCIT:C6207]
synonym: "pediatric brain germinoma" EXACT [MONDO:patterns/childhood, NCIT:C6207]
synonym: "pediatric brain germinoma" RELATED [MONDO:patterns/childhood]
xref: DOID:7429 {source="MONDO:equivalentTo"}
xref: NCIT:C6207 {source="DOID:7429", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.93/2.28"}
xref: UMLS:C1332948 {source="DOID:7429", source="MONDO:equivalentTo", source="NCIT:C6207"}
is_a: MONDO:0002214 {source="DOID:7429", source="MONDO:Redundant", source="MONDOLEX:0004217", source="NCIT:C6207"} ! brain germinoma
is_a: MONDO:0004452 ! childhood central nervous system germinoma
property_value: exactMatch DOID:7429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332948
property_value: exactMatch NCIT:C6207

[Term]
id: MONDO:0004218
name: childhood germ cell brain tumor
def: "A germ cell tumor arising from brain during childhood." [NCIT:P378]
synonym: "Brain germ cell tumor" EXACT [NCIT:C5795]
synonym: "childhood brain germ cell neoplasm" EXACT [NCIT:C5795]
synonym: "childhood brain germ cell tumor" EXACT [NCIT:C5795]
synonym: "childhood germ cell brain neoplasm" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of pediatric brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of the childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of the pediatric brain" EXACT [DOID:7430, NCIT:C5795]
synonym: "germ cell tumor of childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of pediatric brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of the childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of the pediatric brain" EXACT [NCIT:C5795]
synonym: "pediatric brain germ cell neoplasm" EXACT [NCIT:C5795]
synonym: "pediatric brain germ cell tumor" EXACT [NCIT:C5795]
xref: DOID:7430 {source="MONDO:equivalentTo"}
xref: NCIT:C5795 {source="MONDO:equivalentTo", source="DOID:7430", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1377598 {source="MONDO:equivalentTo", source="DOID:7430"}
is_a: MONDO:0003750 {source="DOID:7430", source="NCIT:C5795"} ! childhood central nervous system germ cell tumor
property_value: exactMatch DOID:7430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377598
property_value: exactMatch NCIT:C5795

[Term]
id: MONDO:0004219
name: polyvesicular vitelline pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue." [NCIT:C39930]
synonym: "testicular yolk Sac tumor, polyvesicular vitelline pattern" RELATED [NCIT:C39930]
xref: DOID:7435 {source="MONDO:equivalentTo"}
xref: NCIT:C39930 {source="DOID:7435", source="MONDO:equivalentTo", source="NCIT:C39930"}
xref: UMLS:C1515311 {source="DOID:7435", source="MONDO:equivalentTo", source="NCIT:C39930"}
is_a: MONDO:0003402 {source="DOID:7435", source="MONDOLEX:0004219", source="NCIT:C39930"} ! testicular yolk sac tumor
property_value: exactMatch DOID:7435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515311
property_value: exactMatch NCIT:C39930

[Term]
id: MONDO:0004220
name: endometrial endometrioid adenocarcinoma with spindled epithelial cells
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells." [NCIT:C27850]
synonym: "endometrial endometrioid adenocarcinoma with spindled epithelial cells" EXACT [NCIT:C27850]
synonym: "sarcomatoid uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27850]
xref: DOID:7436 {source="MONDO:equivalentTo"}
xref: NCIT:C27850 {source="DOID:7436", source="NCIT:C27850", source="MONDO:equivalentTo"}
xref: UMLS:C1336913 {source="DOID:7436", source="NCIT:C27850", source="MONDO:equivalentTo"}
is_a: MONDO:0005461 {source="DOID:7436", source="MONDOLEX:0004220", source="NCIT:C27850/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="MONDOLEX:0004220", source="NCIT:C27850"} ! endometrial endometrioid adenocarcinoma
property_value: exactMatch DOID:7436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336913
property_value: exactMatch NCIT:C27850

[Term]
id: MONDO:0004221
name: uterine corpus perivascular epithelioid cell tumor
def: "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall." [NCIT:C40180]
synonym: "body of uterus neoplasm with perivascular epithelioid cell differentiation" EXACT [MONDO:patterns/location]
synonym: "uterine corpus PEComa" EXACT [DOID:7437, NCIT:C40180]
synonym: "uterine corpus perivascular epithelioid cell tumor" EXACT [NCIT:C40180]
synonym: "uterine perivascular epithelioid cell tumor" RELATED [ONCOTREE:UPECOMA]
synonym: "uterus perivascular epithelioid cell tumor" RELATED [DOID:7437]
xref: DOID:7437 {source="MONDO:equivalentTo"}
xref: NCIT:C40180 {source="NCIT:C40180", source="DOID:7437", source="MONDO:equivalentTo"}
xref: ONCOTREE:UPECOMA {source="MONDO:equivalentTo"}
xref: UMLS:C1519862 {source="NCIT:C40180", source="DOID:7437", source="MONDO:equivalentTo"}
is_a: MONDO:0004526 ! mixed endometrial stromal and smooth muscle tumor
is_a: MONDO:0006359 {source="DOID:7437", source="MONDO:Redundant", source="NCIT:C40180"} ! neoplasm with perivascular epithelioid cell differentiation
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:7437"} ! uterine corpus cancer
property_value: exactMatch DOID:7437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519862
property_value: exactMatch NCIT:C40180

[Term]
id: MONDO:0004222
name: ovarian clear cell cystadenocarcinoma
def: "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." [NCIT:C7980]
synonym: "ovarian clear cell cystadenocarcinoma" EXACT [NCIT:C7980]
xref: DOID:7438 {source="MONDO:equivalentTo"}
xref: NCIT:C7980 {source="DOID:7438", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279667 {source="NCIT:C7980", source="DOID:7438", source="MONDO:equivalentTo"}
is_a: MONDO:0002702 {source="DOID:7438", source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian cystadenocarcinoma
is_a: MONDO:0006045 {source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma
intersection_of: MONDO:0002702 {source="NCIT:C7980"} ! ovarian cystadenocarcinoma
intersection_of: MONDO:0006045 {source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma
property_value: exactMatch DOID:7438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279667
property_value: exactMatch NCIT:C7980

[Term]
id: MONDO:0004223
name: polyp of middle ear
def: "A benign polypoid growth in the middle ear." [NCIT:P378]
synonym: "middle Ear polyp" EXACT [NCIT:C6933]
synonym: "middle ear polyp" EXACT [MONDO:patterns/location]
synonym: "polyp - middle ear" EXACT [DOID:7439]
synonym: "polyp of the middle ear" EXACT [DOID:7439, NCIT:C6933]
xref: DOID:7439 {source="MONDO:equivalentTo"}
xref: ICD10:H74.4 {source="MONDO:equivalentTo", source="DOID:7439"}
xref: NCIT:C6933 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7439", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:73103007 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7439", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0271466 {source="MONDO:equivalentTo", source="DOID:7439", source="NCIT:C6933"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C6933/inferred", source="linkedlifedata"} ! polyp
is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C6933/inferred"} ! neoplasm of middle ear
property_value: closeMatch http://identifiers.org/snomedct/155244001
property_value: closeMatch http://identifiers.org/snomedct/267766007
property_value: exactMatch DOID:7439
property_value: exactMatch http://identifiers.org/snomedct/73103007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271466
property_value: exactMatch NCIT:C6933

[Term]
id: MONDO:0004224
name: chronic metabolic polyneuropathy
synonym: "chronic metabolic polyneuropathy" EXACT [NCIT:C35602]
xref: DOID:7441 {source="MONDO:equivalentTo"}
xref: NCIT:C35602 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:7441"}
xref: UMLS:C1333042 {source="MONDO:equivalentTo", source="DOID:7441", source="NCIT:C35602"}
is_a: MONDO:0003335 {source="DOID:7441", source="NCIT:C35602"} ! chronic polyneuropathy
property_value: exactMatch DOID:7441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333042
property_value: exactMatch NCIT:C35602

[Term]
id: MONDO:0004225
name: monoclonal gammopathy of uncertain significance
def: "a condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." [NCIT:C3996]
synonym: "benign monoclonal gammopathy" EXACT [MONDO:0006675]
synonym: "MGUS" EXACT [DOID:7442, NCIT:C3996, ONCOTREE:MGUS]
synonym: "monoclonal gammopathy of undetermined significance" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy Of undetermined significance (MGUS)" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy of undetermined significance (MGUS)" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [DOID:7442]
synonym: "monoclonal gammopathy of unknown significance" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy, benign" EXACT [MONDO:patterns/benign]
xref: DOID:7442 {source="MONDO:equivalentTo"}
xref: EFO:1000836 {source="MONDO:equivalentTo"}
xref: GARD:0007034 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9765/1 {source="NCIT:C3996"}
xref: MESH:D008998 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000836"}
xref: NCIT:C3996 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: ONCOTREE:MGUS {source="MONDO:equivalentTo"}
xref: SCTID:277577000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:58648008 {source="MONDO:kboom-pr-1.00/0.91/6.69", source="MONDO:equivalentTo", source="EFO:1000836"}
xref: UMLS:C0026470 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3996"}
is_a: MONDO:0004960 {source="EFO:1000836", source="MESH:D008998", source="linkedlifedata"} ! monoclonal gammopathy
relationship: excluded_subClassOf MONDO:0004959 {source="DOID:7442", source="EFO:1000836/inferred", source="MONDO:Redundant", source="NCIT:C3996", source="linkedlifedata"} ! plasma cell neoplasm
property_value: closeMatch DOID:3404
property_value: exactMatch DOID:7442
property_value: exactMatch http://identifiers.org/mesh/D008998
property_value: exactMatch http://identifiers.org/snomedct/277577000
property_value: exactMatch http://identifiers.org/snomedct/58648008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026470
property_value: exactMatch NCIT:C3996

[Term]
id: MONDO:0004226
name: diffuse intraductal papillomatosis
synonym: "diffuse intraductal papillomatosis" EXACT [DOID:7444, NCIT:C7364]
xref: DOID:7444 {source="MONDO:equivalentTo"}
xref: NCIT:C7364 {source="DOID:7444", source="MONDO:equivalentTo"}
xref: UMLS:C1377912 {source="DOID:7444", source="NCIT:C7364", source="MONDO:equivalentTo"}
is_a: MONDO:0021098 {source="MONDO:cjm"} ! papillomatosis
property_value: closeMatch http://identifiers.org/snomedct/32296002
property_value: exactMatch DOID:7444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377912
property_value: exactMatch NCIT:C7364

[Term]
id: MONDO:0004227
name: epididymal adenomatoid tumor
def: "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis." [NCIT:C6382, NCIT:P378]
synonym: "adenomatoid neoplasm of epididymis" EXACT [NCIT:C6382]
synonym: "adenomatoid neoplasm of the epididymis" EXACT [DOID:745, NCIT:C6382]
synonym: "adenomatoid tumor of epididymis" EXACT [NCIT:C6382]
synonym: "adenomatoid tumor of the epididymis" EXACT [NCIT:C6382]
synonym: "benign epididymal epithelial mesothelioma" EXACT [DOID:745, NCIT:C6382]
synonym: "epididymal adenomatoid tumor" EXACT [NCIT:C6382]
synonym: "epididymis adenomatoid tumor" EXACT [MONDO:patterns/location]
xref: DOID:745 {source="MONDO:equivalentTo"}
xref: NCIT:C6382 {source="DOID:745", source="MONDO:equivalentTo"}
xref: SCTID:449052009 {source="DOID:745", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C1333415 {source="DOID:745", source="MONDO:equivalentTo", source="NCIT:C6382"}
is_a: MONDO:0002373 ! benign mesothelioma
is_a: MONDO:0004230 {source="DOID:745", source="MONDO:Redundant", source="MONDOLEX:0004227", source="NCIT:C6382"} ! adenomatoid tumor
is_a: MONDO:0021473 {source="MONDO:Redundant", source="NCIT:C6382", source="linkedlifedata"} ! benign neoplasm of epididymis
property_value: exactMatch DOID:745
property_value: exactMatch http://identifiers.org/snomedct/449052009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333415
property_value: exactMatch NCIT:C6382

[Term]
id: MONDO:0004228
name: obsolete hypogonadotropism
is_obsolete: true
replaced_by: MONDO:0018555

[Term]
id: MONDO:0004229
name: acantholytic variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." [NCIT:P378]
synonym: "squamous cell breast carcinoma, acantholytic variant" EXACT [NCIT:C40359]
xref: DOID:7459 {source="MONDO:equivalentTo"}
xref: EFO:1001969 {source="MONDO:equivalentTo"}
xref: NCIT:C40359 {source="DOID:7459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C1519485 {source="NCIT:C40359", source="DOID:7459", source="MONDO:equivalentTo"}
is_a: MONDO:0006056 {source="DOID:7459", source="EFO:1001969", source="MONDOLEX:0004229", source="NCIT:C40359"} ! squamous cell breast carcinoma
property_value: exactMatch DOID:7459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519485
property_value: exactMatch NCIT:C40359

[Term]
id: MONDO:0004230
name: adenomatoid tumor
def: "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." [NCIT:C3762]
synonym: "adenomatoid tumor" EXACT [NCIT:C3762]
synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [DOID:746]
synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [DOID:746]
synonym: "adenomatoid tumor, benign" EXACT [NCIT:C3762]
synonym: "benign localized epithelial mesothelioma" EXACT [DOID:746, NCIT:C3762]
synonym: "benign mesothelial neoplasm" RELATED [NCIT:C3762]
synonym: "benign mesothelial tumor" RELATED [NCIT:C3762]
synonym: "benign mesothelioma" RELATED [NCIT:C3762]
synonym: "benign neoplasm of mesothelium" RELATED [NCIT:C3762]
synonym: "benign neoplasm of the mesothelium" RELATED [NCIT:C3762]
synonym: "benign tumor of mesothelium" RELATED [NCIT:C3762]
synonym: "benign tumor of the mesothelium" RELATED [NCIT:C3762]
synonym: "mesothelioma, benign" RELATED [NCIT:C3762]
xref: DOID:746 {source="MONDO:equivalentTo"}
xref: ICD10:D19.9 {source="DOID:746"}
xref: ICDO:9050/0 {source="NCIT:C3762"}
xref: ICDO:9052/0 {source="NCIT:C3762"}
xref: ICDO:9054/0 {source="NCIT:C3762"}
xref: MESH:D018254 {source="DOID:746", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3762 {source="DOID:746", source="MONDO:equivalentTo"}
xref: UMLS:C0206675 {source="DOID:746", source="MONDO:equivalentTo", source="NCIT:C3762"}
is_a: MONDO:0005065 {source="NCIT:C3762"} ! mesothelioma
property_value: closeMatch http://identifiers.org/snomedct/189835008
property_value: closeMatch http://identifiers.org/snomedct/2348006
property_value: closeMatch http://identifiers.org/snomedct/41183007
property_value: exactMatch DOID:746
property_value: exactMatch http://identifiers.org/mesh/D018254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206675
property_value: exactMatch NCIT:C3762

[Term]
id: MONDO:0004231
name: spindle cell variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells." [NCIT:C40358]
synonym: "metaplastic adenocarcinoma with spindle cell differentiation" RELATED [ONCOTREE:MASCC]
synonym: "squamous cell breast carcinoma, spindle cell variant" EXACT [NCIT:C40358]
xref: DOID:7460 {source="MONDO:equivalentTo"}
xref: NCIT:C40358 {source="MONDO:equivalentTo", source="DOID:7460", source="exact-label-match"}
xref: ONCOTREE:MASCC {source="MONDO:equivalentTo"}
xref: UMLS:C1519487 {source="NCIT:C40358", source="MONDO:equivalentTo", source="DOID:7460"}
is_a: MONDO:0006056 {source="DOID:7460", source="MONDOLEX:0004231", source="NCIT:C40358"} ! squamous cell breast carcinoma
is_a: MONDO:0020663 ! malignant spindle cell neoplasm
is_a: MONDO:0021663 {source="NCIT:C40358"} ! sarcomatoid squamous cell carcinoma
property_value: exactMatch DOID:7460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519487
property_value: exactMatch NCIT:C40358

[Term]
id: MONDO:0004232
name: large cell keratinizing variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization." [NCIT:P378]
synonym: "squamous cell breast carcinoma, large cell keratinizing variant" EXACT [NCIT:C40357]
xref: DOID:7461 {source="MONDO:equivalentTo"}
xref: NCIT:C40357 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64", source="DOID:7461"}
xref: UMLS:C1519486 {source="MONDO:equivalentTo", source="DOID:7461", source="NCIT:C40357"}
is_a: MONDO:0005056 {source="NCIT:C40357"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0006056 {source="DOID:7461", source="MONDOLEX:0004232", source="NCIT:C40357"} ! squamous cell breast carcinoma
property_value: exactMatch DOID:7461
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519486
property_value: exactMatch NCIT:C40357

[Term]
id: MONDO:0004233
name: childhood pleomorphic rhabdomyosarcoma
def: "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells." [NCIT:P378]
synonym: "childhood anaplastic rhabdomyosarcoma" EXACT [DOID:7463, NCIT:C7959]
synonym: "pediatric pleomorphic rhabdomyosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C7959]
synonym: "pediatric pleomorphic rhabdomyosarcoma" RELATED [MONDO:patterns/childhood]
synonym: "pleomorphic childhood rhabdomyosarcoma" EXACT [NCIT:C7959]
synonym: "Pleomorphic rhabdomyosarcoma" EXACT [NCIT:C7959]
synonym: "pleomorphic rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7463 {source="MONDO:equivalentTo"}
xref: NCIT:C7959 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.32", source="DOID:7463"}
xref: UMLS:C0279614 {source="MONDO:equivalentTo", source="DOID:7463", source="NCIT:C7959"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0017386 {source="DOID:7463", source="MONDO:Redundant", source="MONDOLEX:0004233", source="NCIT:C7959"} ! pleomorphic rhabdomyosarcoma
property_value: exactMatch DOID:7463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279614
property_value: exactMatch NCIT:C7959

[Term]
id: MONDO:0004234
name: chronic lymphoproliferative disorder of NK-cells
def: "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." [NCIT:C39591]
subset: ordo_disease
synonym: "chronic lymphoproliferative disorder of natural killer cells" RELATED [Orphanet:512017]
synonym: "chronic lymphoproliferative disorder of NK-cells" EXACT [NCIT:C39591, Orphanet:512017]
synonym: "chronic NK lymphocytosis" EXACT [Orphanet:512017]
synonym: "chronic NK-cell lymphocytosis" EXACT [Orphanet:512017]
synonym: "chronic NK-large granular lymphocyte lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "chronic NK-LGL lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "CLPD-NK" EXACT [NCIT:C39591, Orphanet:512017]
synonym: "CNKL" EXACT [Orphanet:512017]
synonym: "indolent large granular NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "indolent NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "natural killer-cell large granular lymphocyte leukemia" EXACT [NCIT:C39591]
synonym: "NK-cell large granular lymphocyte lymphocytosis" EXACT [DOID:7465, NCIT:C39591]
synonym: "NK-cell lineage granular lymphocyte proliferative disorder" EXACT [Orphanet:512017]
synonym: "NK-LGL leukemia" EXACT [NCIT:C39591]
synonym: "NK-LGLL" EXACT [NCIT:C39591]
synonym: "NK-type lymphoproliferative disorder of granular lymphocytes" EXACT [NCIT:C39591]
xref: DOID:7465 {source="MONDO:equivalentTo"}
xref: ICDO:9831/3 {source="NCIT:C39591"}
xref: NCIT:C39591 {source="MONDO:equivalentTo", source="DOID:7465", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:512017 {source="MONDO:equivalentTo"}
xref: SCTID:722955006 {source="MONDO:equivalentTo"}
xref: UMLS:C1512709 {source="MONDO:equivalentTo", source="NCIT:C39591", source="DOID:7465"}
is_a: MONDO:0005169 {source="NCIT:C39591"} ! neoplasm of mature T-cells or NK-cells
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:7465"} ! type IV hypersensitivity disease
property_value: exactMatch DOID:7465
property_value: exactMatch http://identifiers.org/snomedct/722955006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512709
property_value: exactMatch NCIT:C39591
property_value: exactMatch Orphanet:512017

[Term]
id: MONDO:0004235
name: diverticulitis
def: "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." [NCIT:C26752]
synonym: "digestive tract diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of digestive tract diverticulum" EXACT []
xref: DOID:7475 {source="MONDO:equivalentTo"}
xref: EFO:1001460 {source="MONDO:equivalentTo"}
xref: MESH:D004238 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7475"}
xref: NCIT:C26752 {source="MONDO:equivalentTo", source="NCIT:C26752", source="DOID:7475"}
xref: SCTID:307496006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:7475"}
xref: UMLS:C0012813 {source="MONDO:equivalentTo", source="NCIT:C26752", source="DOID:7475"}
is_a: MONDO:0005020 {source="DOID:7475", source="NCIT:C26752/inferred"} ! intestinal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0002203 {source="Wikidata"} ! constipation disorder
property_value: closeMatch http://identifiers.org/snomedct/155779000
property_value: closeMatch http://identifiers.org/snomedct/18126004
property_value: closeMatch http://identifiers.org/snomedct/197095003
property_value: closeMatch http://identifiers.org/snomedct/197102009
property_value: closeMatch http://identifiers.org/snomedct/197103004
property_value: exactMatch DOID:7475
property_value: exactMatch http://identifiers.org/mesh/D004238
property_value: exactMatch http://identifiers.org/snomedct/307496006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012813
property_value: exactMatch NCIT:C26752

[Term]
id: MONDO:0004236
name: duodenal somatostatinoma
def: "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378]
synonym: "duodenal delta cell somatostatin producing tumor" EXACT [DOID:7479]
synonym: "duodenal somatostatin producing tumor" EXACT [NCIT:C27407]
synonym: "duodenal somatostatin-producing NET" EXACT [NCIT:C27407]
synonym: "duodenal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C27407]
synonym: "duodenal somatostatinoma" EXACT [NCIT:C27407]
xref: DOID:7479 {source="MONDO:equivalentTo"}
xref: NCIT:C27407 {source="DOID:7479", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1333320 {source="DOID:7479", source="MONDO:equivalentTo", source="NCIT:C27407"}
is_a: MONDO:0015063 {source="NCIT:C27407"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0000920 {source="DOID:7479"} ! duodenum cancer
property_value: exactMatch DOID:7479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333320
property_value: exactMatch NCIT:C27407

[Term]
id: MONDO:0004237
name: large cell carcinoma with rhabdoid phenotype
def: "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells." [NCIT:P378]
synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality)" EXACT [DOID:7480]
synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT [DOID:7480, NCIT:C6876]
synonym: "RLCLC" RELATED [ONCOTREE:RLCLC]
xref: DOID:7480 {source="MONDO:equivalentTo"}
xref: ICDO:8014/3 {source="NCIT:C6876"}
xref: NCIT:C6876 {source="MONDO:equivalentTo", source="DOID:7480", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:RLCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1265997 {source="MONDO:equivalentTo", source="NCIT:C6876", source="DOID:7480"}
is_a: MONDO:0003050 {source="DOID:7480", source="MONDOLEX:0004237", source="NCIT:C6876", source="ONCOTREE:RLCLC"} ! lung large cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128629005
property_value: exactMatch DOID:7480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1265997
property_value: exactMatch NCIT:C6876

[Term]
id: MONDO:0004238
name: petrous apex meningioma
def: "A meningioma that affects the petrous apex." [NCIT:P378]
synonym: "meningioma of petrous apex" EXACT [NCIT:C5271]
synonym: "meningioma of petrous ridge" EXACT [NCIT:C5271]
synonym: "meningioma of the petrous apex" EXACT [NCIT:C5271]
synonym: "meningioma of the petrous ridge" EXACT [DOID:7482, NCIT:C5271]
synonym: "petrous ridge meningioma" EXACT [NCIT:C5271]
xref: DOID:7482 {source="MONDO:equivalentTo"}
xref: NCIT:C5271 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7482"}
xref: UMLS:C1335396 {source="MONDO:equivalentTo", source="DOID:7482", source="NCIT:C5271"}
is_a: MONDO:0016642 {source="DOID:7482", source="MONDOLEX:0004238", source="NCIT:C5271/inferred"} ! meningioma (disease)
property_value: exactMatch DOID:7482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335396
property_value: exactMatch NCIT:C5271

[Term]
id: MONDO:0004239
name: cervical keratinizing squamous cell carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." [NCIT:C40187]
synonym: "cervical keratinizing squamous cell carcinoma" EXACT [NCIT:C40187]
xref: DOID:7483 {source="MONDO:equivalentTo"}
xref: NCIT:C40187 {source="MONDO:equivalentTo", source="DOID:7483", source="exact-label-match"}
xref: UMLS:C1517658 {source="MONDO:equivalentTo", source="DOID:7483", source="NCIT:C40187"}
is_a: MONDO:0005056 {source="MONDO:Redundant", source="MONDOLEX:0004239", source="NCIT:C40187"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0006143 {source="DOID:7483", source="MONDO:Redundant", source="NCIT:C40187"} ! cervical squamous cell carcinoma
property_value: exactMatch DOID:7483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517658
property_value: exactMatch NCIT:C40187

[Term]
id: MONDO:0004240
name: posterior urethra cancer
def: "A malignant neoplasm that affects the portion of the urethra that is close to the bladder." [NCIT:P378]
synonym: "malignant neoplasm of posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant neoplasm of the posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant tumor of posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant tumor of the posterior urethra" EXACT [NCIT:C7640]
synonym: "posterior urethra malignant neoplasm" EXACT [NCIT:C7640]
synonym: "posterior urethra malignant tumor" EXACT [NCIT:C7640]
synonym: "posterior urethral cancer" EXACT [NCIT:C7640]
synonym: "posterior urethral malignant neoplasm" EXACT [NCIT:C7640]
synonym: "posterior urethral malignant tumor" EXACT [DOID:7488, NCIT:C7640]
xref: DOID:7488 {source="MONDO:equivalentTo"}
xref: NCIT:C7640 {source="DOID:7488", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279931 {source="DOID:7488", source="NCIT:C7640", source="MONDO:equivalentTo"}
is_a: MONDO:0004192 {source="DOID:7488/inferred", source="MONDO:Redundant", source="MONDOLEX:0004240", source="NCIT:C7640"} ! urethra cancer
relationship: excluded_subClassOf MONDO:0004203 {source="DOID:7488"} ! female urethral cancer
property_value: exactMatch DOID:7488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279931
property_value: exactMatch NCIT:C7640

[Term]
id: MONDO:0004241
name: Osgood-Schlatter disease
def: "Osteochondrosis of the growth plate near the tibial tuberosity." [NCIT:P378]
subset: ordo_disease {source="Orphanet:97335"}
synonym: "aseptic necrosis of the tibial tubercle" EXACT [Orphanet:97335]
synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [DOID:7489]
synonym: "Osgood-Schlatter disease" EXACT [DOID:7489, MONDO:0019968]
synonym: "Osgood-Schlatter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "osteochondritis of the tibial tubercle" EXACT [Orphanet:97335]
synonym: "osteochondritis of tibial tubercle" EXACT [DOID:7489]
synonym: "Osteochondrosis of proximal tibia" EXACT [DOID:7489, MTHICD9_2006:732.4]
synonym: "Osteochondrosis of the tibial tubercle" EXACT [Orphanet:97335]
xref: DOID:7489 {source="MONDO:equivalentTo"}
xref: ICD10:M93.2 {source="Orphanet:97335", source="ORDO:97335/ntbt"}
xref: ICD9:736.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10031130 {source="ORDO:97335/e", source="Orphanet:97335"}
xref: NCIT:C34874 {source="DOID:7489", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:97335 {source="MONDO:equivalentTo"}
xref: SCTID:430506003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.13"}
xref: SCTID:72047008 {source="DOID:7489", source="MONDO:kboom-pr-0.67/0.30/0.13", source="MONDO:equivalentTo"}
is_a: MONDO:0002614 {source="DOID:7489", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease
is_a: MONDO:0018381 {source="NCIT:C34874/inferred", source="Orphanet:97335"} ! osteochondrosis
property_value: closeMatch http://identifiers.org/snomedct/156820001
property_value: closeMatch http://identifiers.org/snomedct/268124001
property_value: closeMatch http://identifiers.org/snomedct/430642003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029376
property_value: exactMatch DOID:7489
property_value: exactMatch http://identifiers.org/meddra/10031130
property_value: exactMatch http://identifiers.org/snomedct/430506003
property_value: exactMatch http://identifiers.org/snomedct/72047008
property_value: exactMatch NCIT:C34874
property_value: exactMatch Orphanet:97335

[Term]
id: MONDO:0004242
name: active peptic ulcer disease
synonym: "GI bleeding" RELATED [DOID:749]
xref: DOID:749 {source="MONDO:equivalentTo"}
xref: ICD9:578.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:74474003 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0004247 {source="DOID:749"} ! peptic ulcer disease
property_value: exactMatch DOID:749
property_value: exactMatch http://identifiers.org/snomedct/74474003

[Term]
id: MONDO:0004243
name: vulvar proximal-type epithelioid sarcoma
def: "An epithelioid sarcoma of the proximal type involving the vulva." [NCIT:P378]
xref: DOID:7491 {source="MONDO:equivalentTo"}
xref: NCIT:C40319 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:7491"}
xref: UMLS:C1520093 {source="NCIT:C40319", source="MONDO:equivalentTo", source="DOID:7491"}
is_a: MONDO:0004244 {source="DOID:7491", source="MONDOLEX:0004243", source="NCIT:C40319"} ! proximal-type epithelioid sarcoma
is_a: MONDO:0005214 {source="DOID:7491", source="NCIT:C40319"} ! vulva sarcoma
property_value: exactMatch DOID:7491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520093
property_value: exactMatch NCIT:C40319

[Term]
id: MONDO:0004244
name: proximal-type epithelioid sarcoma
def: "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma." [NCIT:C27472]
synonym: "central epithelioid sarcoma" EXACT [NCIT:C27472]
synonym: "proximal-type epithelioid sarcoma" EXACT [NCIT:C27472]
synonym: "PTES" RELATED [ONCOTREE:PTES]
xref: DOID:7492 {source="MONDO:equivalentTo"}
xref: NCIT:C27472 {source="MONDO:equivalentTo", source="DOID:7492"}
xref: ONCOTREE:PTES {source="MONDO:equivalentTo"}
xref: UMLS:C1335563 {source="NCIT:C27472", source="MONDO:equivalentTo", source="DOID:7492"}
is_a: MONDO:0017387 {source="DOID:7492", source="NCIT:C27472", source="ONCOTREE:PTES"} ! epithelioid sarcoma
property_value: exactMatch DOID:7492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335563
property_value: exactMatch NCIT:C27472

[Term]
id: MONDO:0004245
name: ependymal tumor of brain
def: "A tumor arising from the ependymal lining of the ventricles." [NCIT:C3861]
synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location]
synonym: "brain ependymoma" RELATED [DOID:7497]
synonym: "ependymal tumor of brain" EXACT [DOID:7497, NCIT:C3861]
synonym: "ependymoma of brain" EXACT [DOID:7497]
xref: DOID:7497 {source="MONDO:equivalentTo"}
xref: NCIT:C3861 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.74/3.46", source="DOID:7497"}
xref: SCTID:254939008 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:7497"}
xref: UMLS:C0238029 {source="MONDO:equivalentTo", source="NCIT:C3861", source="DOID:7497"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3861"} ! ependymal tumor
is_a: MONDO:0005499 {source="DOID:7497", source="linkedlifedata"} ! brain glioma
property_value: exactMatch DOID:7497
property_value: exactMatch http://identifiers.org/snomedct/254939008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238029
property_value: exactMatch NCIT:C3861

[Term]
id: MONDO:0004246
name: obsolete lymphatic system disease
is_obsolete: true
replaced_by: MONDO:0005833

[Term]
id: MONDO:0004247
name: peptic ulcer disease
def: "A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding." [NCIT:P378]
synonym: "acute peptic ulcer with hemorrhage" EXACT [DOID:750]
synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [DOID:750]
synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [DOID:750]
synonym: "peptic ulcer" EXACT [NCIT:C3318]
xref: DOID:750 {source="MONDO:equivalentTo"}
xref: ICD10:K27 {source="DOID:750"}
xref: ICD9:533 {source="DOID:750"}
xref: MESH:D010437 {source="MONDO:equivalentTo", source="DOID:750"}
xref: NCIT:C3318 {source="MONDO:equivalentTo", source="DOID:750", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:13200003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.48", source="DOID:750"}
xref: UMLS:C0030920 {source="MONDO:equivalentTo", source="DOID:750", source="NCIT:C3318"}
is_a: MONDO:0004335 {source="DOID:750", source="MESH:D010437/inferred", source="NCIT:C3318/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease
is_a: MONDO:0043839 {source="linkedlifedata/inferred"} ! ulcer disease
property_value: closeMatch http://identifiers.org/snomedct/155701001
property_value: closeMatch http://identifiers.org/snomedct/155710009
property_value: closeMatch http://identifiers.org/snomedct/196681007
property_value: closeMatch http://identifiers.org/snomedct/196697002
property_value: closeMatch http://identifiers.org/snomedct/196704007
property_value: closeMatch http://identifiers.org/snomedct/196705008
property_value: closeMatch http://identifiers.org/snomedct/266437002
property_value: closeMatch http://identifiers.org/snomedct/266501005
property_value: exactMatch DOID:750
property_value: exactMatch http://identifiers.org/mesh/D010437
property_value: exactMatch http://identifiers.org/snomedct/13200003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030920
property_value: exactMatch NCIT:C3318

[Term]
id: MONDO:0004248
name: pediatric infratentorial ependymoma
def: "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." [NCIT:C9041]
synonym: "childhood infratentorial ependymoma" EXACT [NCIT:C9041]
synonym: "infratentorial ependymoma" EXACT [NCIT:C9041]
synonym: "pediatric infratentorial ependymoma" EXACT [NCIT:C9041]
xref: DOID:7501 {source="MONDO:equivalentTo"}
xref: NCIT:C9041 {source="DOID:7501", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0278599 {source="DOID:7501", source="MONDO:equivalentTo", source="NCIT:C9041"}
is_a: MONDO:0002915 {source="NCIT:C9041"} ! childhood infratentorial neoplasm
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0020685 {source="NCIT:C9041"} ! infratentorial ependymal tumor
relationship: excluded_subClassOf MONDO:0003107 {source="DOID:7501", source="MONDO:Redundant"} ! infratentorial cancer
property_value: exactMatch DOID:7501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278599
property_value: exactMatch NCIT:C9041

[Term]
id: MONDO:0004249
name: pediatric supratentorial ependymoma
def: "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." [NCIT:P378]
synonym: "childhood supratentorial ependymoma" EXACT [NCIT:C9043]
synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502, NCIT:C6268]
synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502, NCIT:C6772]
synonym: "supratentorial ependymoma" EXACT [NCIT:C9043]
xref: DOID:7502 {source="MONDO:equivalentTo"}
xref: EFO:0008495 {source="MONDO:equivalentTo"}
xref: NCIT:C9043 {source="DOID:7502", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.29"}
xref: UMLS:C0278650 {source="DOID:7502", source="MONDO:equivalentTo", source="NCIT:C9043"}
is_a: MONDO:0003478 {source="MONDOLEX:0004249", source="NCIT:C9043"} ! childhood ependymoma
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0020687 {source="NCIT:C9043"} ! supratentorial ependymal tumor
is_a: MONDO:0021191 ! malignant ependymoma
relationship: excluded_subClassOf MONDO:0002071 {source="DOID:7502"} ! supratentorial cancer
property_value: closeMatch NCIT:C6268
property_value: closeMatch NCIT:C6772
property_value: exactMatch DOID:7502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278650
property_value: exactMatch NCIT:C9043

[Term]
id: MONDO:0004250
name: extrahepatic bile duct papillary adenoma
def: "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern." [NCIT:C5849]
synonym: "extrahepatic bile duct papillary adenoma" EXACT [MONDO:patterns/location, NCIT:C5849]
synonym: "papillary adenoma of extrahepatic bile duct" EXACT [NCIT:C5849]
synonym: "papillary adenoma of the extrahepatic bile duct" EXACT [DOID:7503, NCIT:C5849]
xref: DOID:7503 {source="MONDO:equivalentTo"}
xref: NCIT:C5849 {source="DOID:7503", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333510 {source="NCIT:C5849", source="DOID:7503", source="MONDO:equivalentTo"}
is_a: MONDO:0002533 {source="DOID:7503", source="MONDO:Redundant", source="MONDOLEX:0004250", source="NCIT:C5849"} ! papillary adenoma
is_a: MONDO:0003445 {source="DOID:7503", source="MONDO:Redundant", source="MONDOLEX:0004250", source="NCIT:C5849"} ! extrahepatic bile duct adenoma
is_a: MONDO:0003455 {source="DOID:7503", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct papillary neoplasm
property_value: exactMatch DOID:7503
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333510
property_value: exactMatch NCIT:C5849

[Term]
id: MONDO:0004251
name: small intestine neoplasm
def: "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." [NCIT:P378]
synonym: "neoplasm of small bowel" EXACT [NCIT:C4432]
synonym: "neoplasm of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "neoplasm of the small bowel" EXACT [NCIT:C4432]
synonym: "neoplasm of the small intestine" EXACT [NCIT:C4432]
synonym: "small bowel neoplasm" EXACT [NCIT:C4432]
synonym: "small bowel tumor" EXACT [NCIT:C4432]
synonym: "small intestinal neoplasm" EXACT [DOID:7505, NCIT:C4432]
synonym: "small intestine neoplasm" EXACT [NCIT:C4432]
synonym: "small intestine neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "small intestine tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "tumor of small bowel" EXACT [NCIT:C4432]
synonym: "tumor of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "tumor of the small bowel" EXACT [NCIT:C4432]
synonym: "tumor of the small intestine" EXACT [NCIT:C4432]
xref: DOID:7505 {source="MONDO:equivalentTo"}
xref: NCIT:C4432 {source="MONDO:equivalentTo", source="DOID:7505", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:126832004 {source="MONDO:equivalentTo", source="DOID:7505", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345832 {source="MONDO:equivalentTo", source="NCIT:C4432", source="DOID:7505"}
is_a: MONDO:0021118 {source="DOID:7505", source="MONDO:Redundant", source="NCIT:C4432", source="linkedlifedata"} ! intestinal neoplasm
is_a: MONDO:0024635 ! small intestine disease
property_value: exactMatch DOID:7505
property_value: exactMatch http://identifiers.org/snomedct/126832004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345832
property_value: exactMatch NCIT:C4432

[Term]
id: MONDO:0004252
name: small intestinal L-cell glucagon-like peptide producing tumor
def: "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27452]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine" EXACT [MONDO:design_pattern]
synonym: "small intestinal L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27452]
synonym: "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452]
synonym: "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452]
synonym: "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:7506 {source="MONDO:equivalentTo"}
xref: NCIT:C27452 {source="DOID:7506", source="MONDO:equivalentTo"}
xref: UMLS:C3274143 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27452", source="DOID:7506", source="MONDO:equivalentTo"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C27452"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0004211 {source="MONDO:Redundant", source="NCIT:C27452"} ! L-cell glucagon-like peptide-producing neuroendocrine tumor
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:7506"} ! small intestine cancer
property_value: exactMatch DOID:7506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274143
property_value: exactMatch NCIT:C27452

[Term]
id: MONDO:0004253
name: intraductal breast papillomatosis
def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts." [NCIT:C5201]
synonym: "breast intraductal papillomatosis" RELATED [DOID:7511]
synonym: "intraductal breast papillomatosis" EXACT [NCIT:C5201]
synonym: "intraductal papillomatosis of breast" EXACT [NCIT:C5201]
synonym: "intraductal papillomatosis of the breast" EXACT [DOID:7511, NCIT:C5201]
xref: DOID:7511 {source="MONDO:equivalentTo"}
xref: NCIT:C5201 {source="DOID:7511", source="MONDO:equivalentTo"}
xref: UMLS:C1334247 {source="DOID:7511", source="MONDO:equivalentTo", source="NCIT:C5201"}
is_a: MONDO:0002060 ! intraductal papilloma
is_a: MONDO:0002063 {source="DOID:7511", source="MONDO:Redundant", source="MONDOLEX:0004253", source="NCIT:C5201"} ! breast papillomatosis
is_a: MONDO:0021099 {source="MONDO:Redundant", source="MONDOLEX:0004253", source="NCIT:C5201"} ! intraductal papillomatosis
intersection_of: MONDO:0002063 {source="NCIT:C5201"} ! breast papillomatosis
intersection_of: MONDO:0021099 {source="NCIT:C5201"} ! intraductal papillomatosis
property_value: exactMatch DOID:7511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334247
property_value: exactMatch NCIT:C5201

[Term]
id: MONDO:0004254
name: focal intraductal papillomatosis
synonym: "focal intraductal papillomatosis" EXACT [NCIT:C7365]
synonym: "localized intraductal papillomatosis" RELATED [NCIT:C7365]
xref: DOID:7512 {source="MONDO:equivalentTo"}
xref: NCIT:C7365 {source="NCIT:C7365", source="DOID:7512", source="MONDO:equivalentTo"}
xref: UMLS:C1333626 {source="NCIT:C7365", source="DOID:7512", source="MONDO:equivalentTo"}
is_a: MONDO:0021098 {source="MONDO:cjm"} ! papillomatosis
property_value: exactMatch DOID:7512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333626
property_value: exactMatch NCIT:C7365

[Term]
id: MONDO:0004255
name: Wolffian adnexal tumor
def: "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." [NCIT:C40141]
synonym: "FATWO" RELATED [GARD:0008680]
synonym: "female adnexal tumor of probable Wolffian origin" RELATED [GARD:0008680]
synonym: "WAT" RELATED [GARD:0008680]
synonym: "Wolffian adenoma" RELATED [GARD:0008680]
synonym: "Wolffian adnexal neoplasm" EXACT [NCIT:C40141]
synonym: "Wolffian adnexal tumor" EXACT [NCIT:C40141]
synonym: "Wolffian tumor" RELATED [GARD:0008680]
xref: DOID:7514 {source="MONDO:equivalentTo"}
xref: GARD:0008680 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536741 {source="DOID:7514", source="MONDO:equivalentTo"}
xref: NCIT:C40141 {source="DOID:7514", source="MONDO:equivalentTo"}
xref: UMLS:C1520159 {source="DOID:7514", source="MONDO:equivalentTo", source="NCIT:C40141"}
is_a: MONDO:0005626 {source="MESH:C536741/inferred", source="MONDO:Redundant", source="NCIT:C40141"} ! epithelial neoplasm
is_a: MONDO:0021629 {source="NCIT:C40141"} ! uterine ligament neoplasm
relationship: excluded_subClassOf MONDO:0003612 {source="DOID:7514"} ! uterine ligament cancer
property_value: exactMatch DOID:7514
property_value: exactMatch http://identifiers.org/mesh/C536741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520159
property_value: exactMatch NCIT:C40141

[Term]
id: MONDO:0004256
name: lumbar spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the lumbar region of the spinal cord." [NCIT:P378]
synonym: "lumbar intraspinal meningioma" EXACT [NCIT:C5298]
synonym: "meningioma of lumbar spinal canal and spinal cord" EXACT [DOID:7515, NCIT:C5298]
synonym: "meningioma of the lumbar spinal canal and spinal cord" EXACT [NCIT:C5298]
xref: DOID:7515 {source="MONDO:equivalentTo"}
xref: NCIT:C5298 {source="DOID:7515", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334436 {source="DOID:7515", source="NCIT:C5298", source="MONDO:equivalentTo"}
is_a: MONDO:0001279 {source="DOID:7515", source="MONDOLEX:0004256", source="NCIT:C5298"} ! intraspinal meningioma
property_value: exactMatch DOID:7515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334436
property_value: exactMatch NCIT:C5298

[Term]
id: MONDO:0004257
name: childhood central nervous system mixed germ cell tumor
def: "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." [NCIT:P378]
synonym: "Central nervous system Mixed germ cell tumor" EXACT [NCIT:C27403]
synonym: "childhood mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern]
synonym: "mixed germ cell tumor of central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mixed germ cell tumor of central nervous system" RELATED [MONDO:patterns/childhood]
xref: DOID:7516 {source="MONDO:equivalentTo"}
xref: NCIT:C27403 {source="MONDO:kboom-pr-1.00/0.86/11.09", source="MONDO:equivalentTo", source="DOID:7516"}
xref: UMLS:C1332956 {source="MONDO:equivalentTo", source="DOID:7516", source="NCIT:C27403"}
is_a: MONDO:0003750 {source="DOID:7516", source="MONDO:Redundant", source="NCIT:C27403"} ! childhood central nervous system germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0016742 ! mixed germ cell tumor of central nervous system
property_value: exactMatch DOID:7516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332956
property_value: exactMatch NCIT:C27403

[Term]
id: MONDO:0004258
name: female orgasmic disorder
def: "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." [NCIT:C34958]
synonym: "female orgasmic disorder" EXACT [DOID:7518, NCIT:C34958]
synonym: "inhibited female orgasm" RELATED [DOID:7518]
xref: DOID:7518 {source="MONDO:equivalentTo"}
xref: ICD10:F52.31 {source="MONDO:equivalentTo", source="DOID:7518"}
xref: ICD9:302.73 {source="MONDO:equivalentTo", source="i2s", source="DOID:7518"}
xref: NCIT:C34958 {source="MONDO:equivalentTo", source="DOID:7518"}
xref: SCTID:60103007 {source="MONDO:equivalentTo", source="DOID:7518", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0040674 ! orgasm disorder
relationship: excluded_subClassOf MONDO:0002263 {source="DOID:7518", source="NCIT:C34958/inferred"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/191794003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033948
property_value: exactMatch DOID:7518
property_value: exactMatch http://identifiers.org/snomedct/60103007
property_value: exactMatch NCIT:C34958

[Term]
id: MONDO:0004259
name: endocervical carcinoma
def: "A carcinoma that arises from epithelial cells of the endocervix." [MONDO:DesignPattern]
synonym: "carcinoma of endocervix" EXACT [DOID:7519, MONDO:patterns/carcinoma, NCIT:C28327]
synonym: "carcinoma of the endocervix" EXACT [DOID:7519, NCIT:C28327]
synonym: "endocervical adenocarcinoma" NARROW [NCIT:C28327]
synonym: "endocervical cancer" EXACT [NCIT:C28327]
synonym: "endocervical carcinoma" EXACT [NCIT:C28327]
synonym: "endocervix carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7519 {source="MONDO:equivalentTo"}
xref: NCIT:C28327 {source="MONDO:equivalentTo", source="DOID:7519"}
xref: SCTID:372098004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59", source="DOID:7519"}
xref: UMLS:C1299237 {source="MONDO:equivalentTo", source="DOID:7519", source="NCIT:C28327"}
is_a: MONDO:0005131 {source="DOID:7519", source="MONDO:Redundant", source="MONDOLEX:0004259", source="NCIT:C28327", source="OWLReasoner:2017", source="linkedlifedata"} ! cervical carcinoma
is_a: MONDO:0021309 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant neoplasm of endocervix
property_value: exactMatch DOID:7519
property_value: exactMatch http://identifiers.org/snomedct/372098004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299237
property_value: exactMatch NCIT:C28327

[Term]
id: MONDO:0004260
name: peptic ulcer perforation
def: "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." [MESH:D010439]
synonym: "acute peptic ulcer with perforation" EXACT [DOID:752]
synonym: "peptic ulcer with perforation" EXACT [DOID:752]
synonym: "perforated peptic ulcer" EXACT [DOID:752]
xref: DOID:752 {source="MONDO:equivalentTo"}
xref: EFO:1001389 {source="MONDO:equivalentTo"}
xref: MESH:D010439 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:752"}
xref: SCTID:79118000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0030925 {source="MONDO:equivalentTo", source="DOID:752"}
xref: UMLS:C0267291 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004247 {source="DOID:752", source="MESH:D010439", source="linkedlifedata", source="linkedlifedata/inferred"} ! peptic ulcer disease
property_value: closeMatch http://identifiers.org/snomedct/155703003
property_value: closeMatch http://identifiers.org/snomedct/196700003
property_value: closeMatch http://identifiers.org/snomedct/266502003
property_value: closeMatch http://identifiers.org/snomedct/88169003
property_value: exactMatch DOID:752
property_value: exactMatch http://identifiers.org/mesh/D010439
property_value: exactMatch http://identifiers.org/snomedct/79118000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030925
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267291

[Term]
id: MONDO:0004261
name: periductal breast myoepitheliosis
def: "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." [NCIT:C40388]
synonym: "periductal breast myoepitheliosis" EXACT [NCIT:C40388]
xref: DOID:7520 {source="MONDO:equivalentTo"}
xref: NCIT:C40388 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7520"}
xref: UMLS:C1518974 {source="MONDO:equivalentTo", source="NCIT:C40388", source="DOID:7520"}
is_a: MONDO:0004262 {source="DOID:7520", source="NCIT:C40388"} ! breast myoepitheliosis
property_value: exactMatch DOID:7520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518974
property_value: exactMatch NCIT:C40388

[Term]
id: MONDO:0004262
name: breast myoepitheliosis
def: "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." [NCIT:C40385]
synonym: "breast myoepitheliosis" EXACT [NCIT:C40385]
xref: DOID:7521 {source="MONDO:equivalentTo"}
xref: NCIT:C40385 {source="DOID:7521", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1513799 {source="DOID:7521", source="MONDO:equivalentTo", source="NCIT:C40385"}
is_a: MONDO:0002483 {source="DOID:7521", source="NCIT:C40385"} ! breast myoepithelial tumor
property_value: exactMatch DOID:7521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513799
property_value: exactMatch NCIT:C40385

[Term]
id: MONDO:0004263
name: pediatric infratentorial ependymoblastoma
def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." [NCIT:P378]
synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6773]
synonym: "childhood infratentorial ependymoblastoma" EXACT [NCIT:C6773]
synonym: "pediatric infratentorial ependymoblastoma" EXACT [NCIT:C6773]
xref: DOID:7522 {source="MONDO:equivalentTo"}
xref: NCIT:C6773 {source="DOID:7522", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332972 {source="DOID:7522", source="NCIT:C6773", source="MONDO:equivalentTo"}
is_a: MONDO:0002798 ! childhood central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0002915 {source="DOID:7522", source="NCIT:C6773"} ! childhood infratentorial neoplasm
is_a: MONDO:0003107 {source="DOID:7522/inferred", source="MONDO:Redundant", source="NCIT:C6773"} ! infratentorial cancer
is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor
is_a: MONDO:0016715 {source="DOID:7522", source="NCIT:C6773/inferred"} ! ependymoblastoma
intersection_of: MONDO:0002915 ! childhood infratentorial neoplasm
intersection_of: MONDO:0016715 ! ependymoblastoma
property_value: exactMatch DOID:7522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332972
property_value: exactMatch NCIT:C6773

[Term]
id: MONDO:0004264
name: acute gonococcal endometritis
synonym: "acute gonorrhea of uterus" EXACT [DOID:7527, MTHICD9_2006:098.16]
synonym: "gonococcal endometritis" EXACT [DOID:7527]
synonym: "gonococcal endometritis (acute)" EXACT [DOID:7527, ICD9CM_2006:098.16]
synonym: "uterus - acute gonorrhoea" EXACT [DOID:7527]
xref: COHD:200040 {source="MONDO:equivalentTo"}
xref: DOID:7527 {source="MONDO:equivalentTo"}
xref: ICD9:098.16 {source="MONDO:equivalentTo", source="DOID:7527", source="i2s"}
xref: SCTID:65295003 {source="MONDO:equivalentTo", source="DOID:7527", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153196 {source="MONDO:equivalentTo", source="DOID:7527"}
xref: UMLS:C0341829 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004265 {source="DOID:7527", source="linkedlifedata"} ! acute endometritis
property_value: closeMatch http://identifiers.org/snomedct/186913003
property_value: exactMatch DOID:7527
property_value: exactMatch http://identifiers.org/snomedct/65295003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341829

[Term]
id: MONDO:0004265
name: acute endometritis
def: "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." [NCIT:P378]
synonym: "endometritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:7528 {source="MONDO:equivalentTo"}
xref: ICD9:615.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27022 {source="DOID:7528", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:67667007 {source="DOID:7528", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0238103 {source="NCIT:C27022", source="DOID:7528", source="MONDO:equivalentTo"}
is_a: MONDO:0000918 {source="DOID:7528", source="MONDO:Redundant", source="NCIT:C27022", source="linkedlifedata"} ! endometritis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155976002
property_value: exactMatch DOID:7528
property_value: exactMatch http://identifiers.org/snomedct/67667007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238103
property_value: exactMatch NCIT:C27022

[Term]
id: MONDO:0004266
name: anal gland adenocarcinoma
def: "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes." [NCIT:P378]
synonym: "adenocarcinoma of anal ducts" EXACT [DOID:7531]
synonym: "adenocarcinoma of anal gland" RELATED [DOID:7531]
synonym: "adenocarcinoma of the anal gland" EXACT [NCIT:C5609]
synonym: "anal glands adenocarcinoma" EXACT [DOID:7531, NCIT:C5609]
xref: DOID:7531 {source="MONDO:equivalentTo"}
xref: ICDO:8215/3 {source="NCIT:C5609"}
xref: NCIT:C5609 {source="MONDO:equivalentTo", source="DOID:7531", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:AGA {source="MONDO:equivalentTo"}
xref: UMLS:C1266027 {source="NCIT:C5609", source="MONDO:equivalentTo", source="DOID:7531"}
is_a: MONDO:0002652 {source="DOID:7531", source="NCIT:C5609/inferred"} ! anus adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/128655006
property_value: exactMatch DOID:7531
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266027
property_value: exactMatch NCIT:C5609

[Term]
id: MONDO:0004267
name: squamous papillomatosis
def: "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." [NCIT:C9009]
synonym: "squamous papillomatosis" EXACT [NCIT:C9009]
xref: DOID:7532 {source="MONDO:equivalentTo"}
xref: ICDO:8060/0 {source="NCIT:C9009"}
xref: NCIT:C9009 {source="DOID:7532", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1378340 {source="DOID:7532", source="MONDO:equivalentTo", source="NCIT:C9009"}
is_a: MONDO:0021098 {source="NCIT:C9009"} ! papillomatosis
property_value: closeMatch http://identifiers.org/snomedct/82049002
property_value: exactMatch DOID:7532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378340
property_value: exactMatch NCIT:C9009

[Term]
id: MONDO:0004268
name: subareolar duct papillomatosis
synonym: "subareolar duct papillomatosis" EXACT [DOID:7533, NCIT:C9008]
xref: DOID:7533 {source="MONDO:equivalentTo"}
is_a: MONDO:0002482 {source="DOID:7533"} ! nipple neoplasm
property_value: exactMatch DOID:7533
property_value: exactMatch NCIT:C9008

[Term]
id: MONDO:0004269
name: breast cystic hypersecretory carcinoma
synonym: "cystic hypersecretory carcinoma of the breast" RELATED [DOID:7537]
synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [DOID:7537, NCIT:C6869]
xref: DOID:7537 {source="MONDO:equivalentTo"}
is_a: MONDO:0003208 {source="DOID:7537"} ! breast secretory carcinoma
property_value: exactMatch DOID:7537

[Term]
id: MONDO:0004270
name: breast ductal adenoma
def: "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." [NCIT:C40384]
synonym: "breast ductal adenoma" EXACT [NCIT:C40384]
synonym: "ductal adenoma" EXACT [NCIT:C40384]
xref: DOID:7538 {source="MONDO:equivalentTo"}
xref: NCIT:C40384 {source="MONDO:equivalentTo", source="DOID:7538", source="exact-label-match"}
xref: UMLS:C1511307 {source="MONDO:equivalentTo", source="DOID:7538", source="NCIT:C40384"}
is_a: MONDO:0002058 {source="DOID:7538", source="NCIT:C40384"} ! breast adenoma
property_value: exactMatch DOID:7538
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511307
property_value: exactMatch NCIT:C40384

[Term]
id: MONDO:0004271
name: pregnancy adenoma
def: "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes." [NCIT:P378]
synonym: "Lactating adenoma" EXACT [NCIT:C9473]
synonym: "Lactating adenoma (morphologic abnormality)" EXACT [DOID:7539]
xref: DOID:7539 {source="MONDO:equivalentTo"}
xref: ICDO:8204/0 {source="NCIT:C9473"}
xref: NCIT:C9473 {source="DOID:7539", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1266023 {source="DOID:7539", source="MONDO:equivalentTo", source="NCIT:C9473"}
is_a: MONDO:0002058 {source="DOID:7539", source="NCIT:C9473/inferred"} ! breast adenoma
property_value: closeMatch http://identifiers.org/snomedct/128651002
property_value: exactMatch DOID:7539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266023
property_value: exactMatch NCIT:C9473

[Term]
id: MONDO:0004272
name: urinary bladder tuberculosis
def: "A tuberculosis that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder tuberculosis" RELATED [DOID:754]
synonym: "bladder tuberculous" EXACT [DOID:754]
synonym: "tuberculosis of bladder" EXACT [DOID:754]
synonym: "tuberculosis of bladder, unspecified examination" EXACT [DOID:754, ICD9CM_2006:016.10]
synonym: "tuberculous cystitis" EXACT [DOID:754]
synonym: "urinary bladder tuberculosis" EXACT [MONDO:patterns/location]
xref: DOID:754 {source="MONDO:equivalentTo"}
xref: ICD10:A18.12 {source="DOID:754"}
xref: ICD9:016.1 {source="DOID:754"}
xref: ICD9:016.10 {source="DOID:754", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:016.14 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:32268008 {source="DOID:754", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152793 {source="DOID:754", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005247 ! urinary tract infection (disease)
is_a: MONDO:0006002 {source="DOID:754", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis
is_a: MONDO:0006026 {source="DOID:754", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/186237005
property_value: exactMatch DOID:754
property_value: exactMatch http://identifiers.org/snomedct/32268008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152793

[Term]
id: MONDO:0004273
name: breast apocrine adenoma
def: "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." [NCIT:C40383]
synonym: "apocrine adenoma of breast" EXACT [MONDO:design_pattern]
synonym: "breast apocrine adenoma" EXACT [MONDO:patterns/location, NCIT:C40383]
xref: DOID:7540 {source="MONDO:equivalentTo"}
xref: NCIT:C40383 {source="MONDO:equivalentTo", source="DOID:7540", source="exact-label-match"}
xref: UMLS:C1388299 {source="MONDO:equivalentTo", source="NCIT:C40383", source="DOID:7540"}
is_a: MONDO:0002058 {source="DOID:7540", source="NCIT:C40383"} ! breast adenoma
is_a: MONDO:0002804 {source="DOID:7540", source="MONDO:Entailed", source="MONDO:Redundant"} ! apocrine adenoma
is_a: MONDO:0021110 ! sweat gland adenoma
is_a: MONDO:0021489 ! benign neoplasm of sweat gland
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: exactMatch DOID:7540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1388299
property_value: exactMatch NCIT:C40383

[Term]
id: MONDO:0004274
name: mixed epithelial/mesenchymal metaplastic breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous." [NCIT:P378]
synonym: "breast carcinosarcoma" EXACT [NCIT:C40364]
synonym: "mixed type metaplastic breast cancer" RELATED [ONCOTREE:MMBC]
xref: DOID:7541 {source="MONDO:equivalentTo"}
xref: NCIT:C40364 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7541"}
xref: ONCOTREE:MMBC {source="MONDO:equivalentTo"}
xref: UMLS:C1513365 {source="MONDO:equivalentTo", source="NCIT:C40364", source="DOID:7541"}
is_a: MONDO:0006043 {source="DOID:7541", source="NCIT:C40364", source="ONCOTREE:MMBC"} ! metaplastic breast carcinoma
property_value: exactMatch DOID:7541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513365
property_value: exactMatch NCIT:C40364

[Term]
id: MONDO:0004275
name: osteosarcoma arising in bone Paget disease
def: "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis." [NCIT:C6469]
synonym: "osteosarcoma arising in bone Paget disease" EXACT [DOID:7542]
synonym: "osteosarcoma arising in bone Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C6469]
synonym: "osteosarcoma arising in osseous Paget's disease" EXACT [DOID:7542, NCIT:C6469]
synonym: "osteosarcoma arising in osteitis deformans" EXACT [NCIT:C6469]
synonym: "osteosarcoma arising in Paget disease of bone" EXACT [NCIT:C6469]
synonym: "osteosarcoma arising in Paget's disease of bone" EXACT [NCIT:C6469]
synonym: "Paget osteosarcoma" EXACT [NCIT:C6469]
synonym: "Paget's osteosarcoma" EXACT [NCIT:C6469]
xref: DOID:7542 {source="MONDO:equivalentTo"}
xref: ICDO:9184/3 {source="NCIT:C6469"}
xref: NCIT:C6469 {source="MONDO:equivalentTo", source="DOID:7542", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335148 {source="MONDO:equivalentTo", source="NCIT:C6469", source="DOID:7542"}
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0002629 {source="DOID:7542", source="NCIT:C6469/inferred"} ! bone osteosarcoma
is_a: MONDO:0021165 ! Paget disease
property_value: exactMatch DOID:7542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335148
property_value: exactMatch NCIT:C6469

[Term]
id: MONDO:0004276
name: ceruminoma
def: "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." [NCIT:C6088]
synonym: "adenoma, ceruminous gland, benign" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma (morphologic abnormality)" EXACT [DOID:7549]
synonym: "ceruminous adenoma of external auditory canal" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma of the external auditory canal" EXACT [NCIT:C6088]
synonym: "external auditory canal ceruminous adenoma" EXACT [NCIT:C6088]
xref: DOID:7549 {source="MONDO:equivalentTo"}
xref: ICDO:8420/0 {source="NCIT:C6088"}
xref: NCIT:C6088 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:403945001 {source="MONDO:equivalentTo", source="DOID:7549", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334352 {source="NCIT:C6088", source="MONDO:equivalentTo", source="DOID:7549"}
xref: UMLS:C1333488 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002804 {source="NCIT:C6088"} ! apocrine adenoma
property_value: closeMatch http://identifiers.org/snomedct/52707009
property_value: exactMatch DOID:7549
property_value: exactMatch http://identifiers.org/snomedct/403945001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333488
property_value: exactMatch NCIT:C6088

[Term]
id: MONDO:0004277
name: gonorrhea
def: "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." [NCIT:P378]
synonym: "acrodermatitis, infantile lichenoid" RELATED [GARD:0006499]
synonym: "acrodermatitis, papular infantile" RELATED [GARD:0006499]
synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [DOID:7551]
synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [DOID:7551]
synonym: "Crosti-gianotti syndrome" RELATED [GARD:0006499]
synonym: "GC" EXACT [NCIT:C92950]
synonym: "Gianotti Crosti syndrome" RELATED [GARD:0006499]
synonym: "infections, Neisseria gonorrhoeae" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "PAC" RELATED [GARD:0006499]
synonym: "papular acrodermatitis of childhood" RELATED [GARD:0006499]
synonym: "PAS" RELATED [GARD:0006499]
xref: COHD:433417 {source="MONDO:equivalentTo"}
xref: DOID:7551 {source="MONDO:equivalentTo"}
xref: GARD:0006499 {source="MONDO:equivalentTo"}
xref: ICD10:A54 {source="DOID:7551"}
xref: ICD10:A54.9 {source="DOID:7551"}
xref: ICD9:098 {source="DOID:7551"}
xref: ICD9:098.2 {source="DOID:7551"}
xref: ICD9:098.32 {source="DOID:7551"}
xref: ICD9:098.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006069 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7551"}
xref: NCIT:C92950 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:7551"}
xref: SCTID:15628003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:7551"}
xref: UMLS:C0018081 {source="NCIT:C92950", source="MONDO:equivalentTo", source="DOID:7551"}
is_a: MONDO:0000314 {source="DOID:7551"} ! primary bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D006069"} ! bacterial sexually transmitted disease
property_value: closeMatch http://identifiers.org/snomedct/154387008
property_value: closeMatch http://identifiers.org/snomedct/186943001
property_value: closeMatch http://identifiers.org/snomedct/187361005
property_value: closeMatch http://identifiers.org/snomedct/266142004
property_value: closeMatch http://identifiers.org/snomedct/60893000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153199
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153203
property_value: closeMatch NCIT:C35730
property_value: exactMatch DOID:7551
property_value: exactMatch http://identifiers.org/mesh/D006069
property_value: exactMatch http://identifiers.org/snomedct/15628003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018081
property_value: exactMatch NCIT:C92950

[Term]
id: MONDO:0004278
name: infiltrating bladder urothelial carcinoma sarcomatoid variant
def: "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." [NCIT:C39824]
synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [MONDO:0006253, NCIT:C39824]
synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" EXACT [DOID:7553]
synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" EXACT [DOID:7553]
synonym: "sarcomatoid carcinoma of the urinary bladder" BROAD [ONCOTREE:SCB]
xref: DOID:7553 {source="MONDO:equivalentTo"}
xref: EFO:1000303 {source="MONDO:equivalentTo"}
xref: NCIT:C39824 {source="MONDO:equivalentTo", source="EFO:1000303", source="DOID:7553"}
xref: ONCOTREE:SCB {source="MONDO:equivalentTo"}
xref: UMLS:C1512743 {source="MONDO:equivalentTo", source="NCIT:C39824", source="DOID:7553"}
xref: UMLS:C1512744 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1512745 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002837 {source="NCIT:C39824"} ! sarcomatoid transitional cell carcinoma
is_a: MONDO:0003890 {source="DOID:7553", source="MONDOLEX:0004278", source="NCIT:C39824"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512745
property_value: exactMatch NCIT:C39824

[Term]
id: MONDO:0004279
name: glossopharyngeal motor neuropathy
def: "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)" [MESH:D020435]
synonym: "glossopharyngeal nerve motor peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "motor peripheral neuropathy of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
xref: DOID:7558 {source="MONDO:equivalentTo"}
xref: NCIT:C27212 {source="DOID:7558", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0751942 {source="DOID:7558", source="NCIT:C27212", source="MONDO:equivalentTo"}
is_a: MONDO:0002316 {source="MONDO:Redundant", source="NCIT:C27212"} ! motor peripheral neuropathy
is_a: MONDO:0002639 ! glossopharyngeal nerve disease
relationship: excluded_subClassOf MONDO:0004004 {source="DOID:7558"} ! motor nerve neuritis
property_value: closeMatch http://identifiers.org/mesh/D020435
property_value: exactMatch DOID:7558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751942
property_value: exactMatch NCIT:C27212

[Term]
id: MONDO:0004280
name: asymmetric motor neuropathy
xref: DOID:7559 {source="MONDO:equivalentTo"}
xref: NCIT:C27953 {source="DOID:7559", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C1332341 {source="DOID:7559", source="MONDO:equivalentTo", source="NCIT:C27953"}
is_a: MONDO:0004004 {source="DOID:7559"} ! motor nerve neuritis
property_value: exactMatch DOID:7559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332341
property_value: exactMatch NCIT:C27953

[Term]
id: MONDO:0004281
name: vulvar eccrine porocarcinoma
def: "An eccrine porocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40306]
synonym: "eccrine porocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva eccrine porocarcinoma" EXACT [MONDO:patterns/location]
synonym: "vulvar eccrine porocarcinoma" EXACT [NCIT:C40306]
xref: DOID:7565 {source="MONDO:equivalentTo"}
xref: NCIT:C40306 {source="DOID:7565", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1520081 {source="DOID:7565", source="NCIT:C40306", source="MONDO:equivalentTo"}
is_a: MONDO:0003861 {source="MONDO:Redundant", source="NCIT:C40306"} ! vulvar eccrine adenocarcinoma
is_a: MONDO:0006189 {source="MONDO:Redundant", source="MONDOLEX:0004281", source="NCIT:C40306"} ! eccrine porocarcinoma
property_value: exactMatch DOID:7565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520081
property_value: exactMatch NCIT:C40306

[Term]
id: MONDO:0004282
name: obsolete eccrine porocarcinoma
is_obsolete: true
replaced_by: MONDO:0006189

[Term]
id: MONDO:0004283
name: vulvar clear cell hidradenocarcinoma
def: "A vulvar sweat gland carcinoma characterized by the presence of clear cells." [NCIT:C40307]
synonym: "vulvar clear cell hidradenocarcinoma" EXACT [NCIT:C40307]
xref: DOID:7567 {source="MONDO:equivalentTo"}
xref: NCIT:C40307 {source="DOID:7567", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1520076 {source="DOID:7567", source="NCIT:C40307", source="MONDO:equivalentTo"}
is_a: MONDO:0006245 {source="NCIT:C40307"} ! hidradenocarcinoma
is_a: MONDO:0024336 ! vulvar adenocarcinoma
property_value: exactMatch DOID:7567
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520076
property_value: exactMatch NCIT:C40307

[Term]
id: MONDO:0004284
name: obsolete malignant cystic nephroma
comment: obsoleted as cystic neprhomas are benign
is_obsolete: true

[Term]
id: MONDO:0004285
name: pancreatic intraductal papillary-mucinous carcinoma
def: "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." [NCIT:C5725]
subset: ordo_disease {source="Orphanet:424058"}
synonym: "intraductal papillary mucinous carcinoma of pancreas" EXACT [MONDO:0018524]
synonym: "intraductal papillary-colloid carcinoma of pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloid carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloidal carcinoma of pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloidal carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-mucinous carcinoma of pancreas" EXACT [DOID:7574, NCIT:C5725]
synonym: "intraductal papillary-mucinous carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary mucinous carcinoma" EXACT [Orphanet:424058]
synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5725]
xref: DOID:7574 {source="MONDO:equivalentTo"}
xref: ICD10:C25.3 {source="ORDO:424058/ntbt", source="Orphanet:424058"}
xref: NCIT:C5725 {source="MONDO:equivalentTo", source="NCIT:C5725", source="DOID:7574"}
xref: Orphanet:424058 {source="MONDO:equivalentTo"}
xref: UMLS:C1335304 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5725", source="Orphanet:424058", source="DOID:7574"}
is_a: MONDO:0005192 {source="Orphanet:424058"} ! exocrine pancreatic carcinoma
relationship: excluded_subClassOf MONDO:0006047 {source="DOID:7574"} ! pancreatic adenocarcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch DOID:7574
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335304
property_value: exactMatch NCIT:C5725
property_value: exactMatch Orphanet:424058

[Term]
id: MONDO:0004286
name: pancreatic intraductal papillary-mucinous neoplasm
def: "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." [NCIT:C38342]
synonym: "intraductal papillary mucinous neoplasm" RELATED [ONCOTREE:IPMN]
synonym: "IPMN" EXACT [NCIT:C38342]
synonym: "pancreatic intraductal papillary-mucinous neoplasm" EXACT [NCIT:C38342]
synonym: "pancreatic intraductal papillary-mucinous tumor" EXACT [NCIT:C38342]
synonym: "pancreatic IPMN" EXACT [NCIT:C38342]
xref: DOID:7575 {source="MONDO:equivalentTo"}
xref: NCIT:C38342 {source="NCIT:C38342", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7575"}
xref: ONCOTREE:IPMN {source="MONDO:equivalentTo"}
xref: UMLS:C1518869 {source="NCIT:C38342", source="MONDO:equivalentTo", source="DOID:7575"}
is_a: MONDO:0002116 {source="DOID:7575"} ! malignant exocrine pancreas neoplasm
property_value: exactMatch DOID:7575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518869
property_value: exactMatch NCIT:C38342

[Term]
id: MONDO:0004287
name: pancreatic foamy gland adenocarcinoma
def: "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." [NCIT:C37256]
synonym: "pancreatic foamy gland adenocarcinoma" EXACT [NCIT:C37256]
xref: DOID:7577 {source="MONDO:equivalentTo"}
xref: NCIT:C37256 {source="DOID:7577", source="NCIT:C37256", source="MONDO:equivalentTo"}
xref: UMLS:C1335303 {source="DOID:7577", source="NCIT:C37256", source="MONDO:equivalentTo"}
is_a: MONDO:0005184 {source="NCIT:C37256"} ! pancreatic ductal adenocarcinoma
property_value: exactMatch DOID:7577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335303
property_value: exactMatch NCIT:C37256

[Term]
id: MONDO:0004288
name: scirrhous breast carcinoma
def: "An infiltrating ductal breast carcinoma associated with stromal fibrosis." [NCIT:C7362]
synonym: "breast scirrhous carcinoma" RELATED [DOID:7578]
synonym: "infiltrating carcinoma of breast with fibrotic Stroma" EXACT [DOID:7578, NCIT:C7362]
synonym: "infiltrating carcinoma of the breast with fibrotic Stroma" EXACT [NCIT:C7362]
synonym: "scirrhous breast carcinoma" EXACT [NCIT:C7362]
synonym: "scirrhous carcinoma of breast" EXACT [DOID:7578, NCIT:C7362]
synonym: "scirrhous carcinoma of the breast" EXACT [NCIT:C7362]
xref: DOID:7578 {source="MONDO:equivalentTo"}
xref: ICDO:8514/3 {source="NCIT:C7362"}
xref: NCIT:C7362 {source="DOID:7578", source="MONDO:equivalentTo"}
xref: SCTID:254839007 {source="DOID:7578", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346151 {source="NCIT:C7362", source="DOID:7578", source="MONDO:equivalentTo"}
is_a: MONDO:0004953 {source="NCIT:C7362"} ! invasive ductal breast carcinoma
property_value: exactMatch DOID:7578
property_value: exactMatch http://identifiers.org/snomedct/254839007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346151
property_value: exactMatch NCIT:C7362

[Term]
id: MONDO:0004289
name: glottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness." [NCIT:C8189]
synonym: "glottic verrucous carcinoma" EXACT [DOID:7583, NCIT:C8189]
synonym: "glottis verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8189]
synonym: "verrucous carcinoma of glottis" EXACT [DOID:7583, NCIT:C8189]
synonym: "verrucous carcinoma of the glottis" EXACT [NCIT:C8189]
xref: DOID:7583 {source="MONDO:equivalentTo"}
xref: NCIT:C8189 {source="MONDO:equivalentTo", source="DOID:7583"}
xref: UMLS:C0280329 {source="NCIT:C8189", source="MONDO:equivalentTo", source="DOID:7583"}
is_a: MONDO:0002766 {source="DOID:7583", source="MONDO:Redundant", source="NCIT:C8189"} ! larynx verrucous carcinoma
is_a: MONDO:0004080 {source="DOID:7583", source="MONDO:Redundant", source="NCIT:C8189"} ! glottis squamous cell carcinoma
property_value: exactMatch DOID:7583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280329
property_value: exactMatch NCIT:C8189

[Term]
id: MONDO:0004290
name: subglottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx." [NCIT:P378]
synonym: "subglottic verrucous carcinoma" EXACT [NCIT:C8190]
synonym: "subglottis verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of subglottis" EXACT [DOID:7584, NCIT:C8190]
synonym: "verrucous carcinoma of the subglottis" RELATED [DOID:7584]
xref: DOID:7584 {source="MONDO:equivalentTo"}
xref: NCIT:C8190 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7584", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0280330 {source="MONDO:equivalentTo", source="NCIT:C8190", source="DOID:7584"}
is_a: MONDO:0002766 ! larynx verrucous carcinoma
is_a: MONDO:0004291 {source="DOID:7584", source="MONDO:Redundant", source="NCIT:C8190"} ! subglottis squamous cell carcinoma
property_value: exactMatch DOID:7584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280330
property_value: exactMatch NCIT:C8190

[Term]
id: MONDO:0004291
name: subglottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland." [NCIT:P378]
synonym: "epidermoid carcinoma of subglottis" EXACT [NCIT:C8187]
synonym: "epidermoid carcinoma of the subglottis" EXACT [DOID:7585, NCIT:C8187]
synonym: "squamous cell carcinoma of subglottis" EXACT [NCIT:C8187]
synonym: "squamous cell carcinoma of the subglottis" EXACT [NCIT:C8187]
synonym: "subglottic epidermoid carcinoma" EXACT [NCIT:C8187]
synonym: "subglottic squamous cell carcinoma" EXACT [NCIT:C8187]
synonym: "subglottis epidermoid carcinoma" EXACT [NCIT:C8187]
synonym: "subglottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8187]
xref: DOID:7585 {source="MONDO:equivalentTo"}
xref: NCIT:C8187 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7585", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0280326 {source="NCIT:C8187", source="MONDO:equivalentTo", source="DOID:7585"}
is_a: MONDO:0004358 {source="DOID:7585", source="MONDO:Redundant", source="MONDOLEX:0004291", source="NCIT:C8187"} ! subglottis carcinoma
is_a: MONDO:0005595 {source="MONDO:Redundant", source="NCIT:C8187"} ! laryngeal squamous cell carcinoma
property_value: exactMatch DOID:7585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280326
property_value: exactMatch NCIT:C8187

[Term]
id: MONDO:0004292
name: supraglottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx." [NCIT:C8191]
synonym: "supraglottic part of larynx verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic verrucous carcinoma" EXACT [NCIT:C8191]
synonym: "supraglottis verrucous carcinoma" EXACT [NCIT:C8191]
synonym: "verrucous carcinoma of supraglottis" EXACT [DOID:7586, NCIT:C8191]
synonym: "verrucous carcinoma of the supraglottis" EXACT [DOID:7586, NCIT:C8191]
xref: DOID:7586 {source="MONDO:equivalentTo"}
xref: NCIT:C8191 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7586", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0280331 {source="MONDO:equivalentTo", source="NCIT:C8191", source="DOID:7586"}
is_a: MONDO:0002766 ! larynx verrucous carcinoma
is_a: MONDO:0004293 {source="DOID:7586", source="MONDO:Redundant", source="NCIT:C8191"} ! supraglottis squamous cell carcinoma
property_value: exactMatch DOID:7586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280331
property_value: exactMatch NCIT:C8191

[Term]
id: MONDO:0004293
name: supraglottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue." [NCIT:P378]
synonym: "epidermoid carcinoma of supraglottis" EXACT [NCIT:C4945]
synonym: "epidermoid carcinoma of the supraglottis" EXACT [DOID:7587, NCIT:C4945]
synonym: "squamous cell carcinoma of supraglottis" EXACT [NCIT:C4945]
synonym: "squamous cell carcinoma of the supraglottis" EXACT [NCIT:C4945]
synonym: "supraglottic epidermoid carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottic part of larynx squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic squamous cell carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottis epidermoid carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottis squamous cell carcinoma" EXACT [NCIT:C4945]
xref: DOID:7587 {source="MONDO:equivalentTo"}
xref: NCIT:C4945 {source="DesignPattern", source="DOID:7587", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0749163 {source="DOID:7587", source="MONDO:equivalentTo", source="NCIT:C4945"}
is_a: MONDO:0004357 {source="DOID:7587", source="MONDO:Redundant", source="MONDOLEX:0004293", source="NCIT:C4945"} ! carcinoma of supraglottis
is_a: MONDO:0005595 {source="MONDO:Redundant", source="MONDOLEX:0004293", source="NCIT:C4945"} ! laryngeal squamous cell carcinoma
property_value: exactMatch DOID:7587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0749163
property_value: exactMatch NCIT:C4945

[Term]
id: MONDO:0004294
name: gestational ovarian choriocarcinoma
def: "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." [NCIT:C40442]
synonym: "gestational ovarian choriocarcinoma" EXACT [NCIT:C40442]
xref: DOID:7591 {source="MONDO:equivalentTo"}
xref: NCIT:C40442 {source="MONDO:equivalentTo", source="DOID:7591", source="exact-label-match"}
xref: UMLS:C1517538 {source="MONDO:equivalentTo", source="DOID:7591", source="NCIT:C40442"}
is_a: MONDO:0003507 {source="DOID:7591", source="MONDO:Entailed", source="MONDOLEX:0004294", source="NCIT:C40442"} ! choriocarcinoma of ovary
is_a: MONDO:0016096 ! malignant non-dysgerminomatous germ cell tumor of ovary
is_a: MONDO:0020550 {source="NCIT:C40442"} ! gestational choriocarcinoma
property_value: exactMatch DOID:7591
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517538
property_value: exactMatch NCIT:C40442

[Term]
id: MONDO:0004295
name: asbestos-related lung carcinoma
def: "A carcinoma arising in the lung due to exposure to asbestos." [NCIT:C27925]
synonym: "asbestos-related lung cancer" EXACT [NCIT:C27925]
synonym: "asbestos-related lung carcinoma" EXACT [NCIT:C27925]
xref: DOID:7596 {source="MONDO:equivalentTo"}
xref: NCIT:C27925 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7596"}
xref: UMLS:C1332337 {source="MONDO:equivalentTo", source="NCIT:C27925", source="DOID:7596"}
is_a: MONDO:0005138 {source="DOID:7596", source="MONDOLEX:0004295", source="NCIT:C27925"} ! lung carcinoma
property_value: exactMatch DOID:7596
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332337
property_value: exactMatch NCIT:C27925

[Term]
id: MONDO:0004296
name: cervical lymphoepithelioma-like carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." [NCIT:C40193]
synonym: "cervical lymphoepithelioma-like carcinoma" EXACT [NCIT:C40193]
xref: DOID:7598 {source="MONDO:equivalentTo"}
xref: NCIT:C40193 {source="DOID:7598", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516418 {source="DOID:7598", source="NCIT:C40193", source="MONDO:equivalentTo"}
is_a: MONDO:0006143 {source="DOID:7598", source="NCIT:C40193"} ! cervical squamous cell carcinoma
property_value: exactMatch DOID:7598
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516418
property_value: exactMatch NCIT:C40193

[Term]
id: MONDO:0004297
name: lymphoepithelioma-like thymic carcinoma
def: "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection." [NCIT:P378]
synonym: "lymphoepithelial cancer of the Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelial cancer of Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelial Thymus cancer" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like carcinoma of the Thymus" EXACT [DOID:7599, NCIT:C7998]
synonym: "lymphoepithelioma-like carcinoma of Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like thymic carcinoma" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like Thymus carcinoma" EXACT [NCIT:C7998]
synonym: "malignant lymphoepithelial thymoma" EXACT [NCIT:C7998]
synonym: "thymic lymphoepithelioma-like carcinoma" EXACT [NCIT:C7998]
xref: DOID:7599 {source="MONDO:equivalentTo"}
xref: NCIT:C7998 {source="DOID:7599", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.34"}
xref: UMLS:C0279706 {source="DOID:7599", source="MONDO:equivalentTo", source="NCIT:C7998"}
is_a: MONDO:0006451 {source="DOID:7599", source="MONDOLEX:0004297", source="NCIT:C7998"} ! thymic carcinoma
property_value: exactMatch DOID:7599
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279706
property_value: exactMatch NCIT:C7998

[Term]
id: MONDO:0004298
name: stomach disease
def: "A disease involving the stomach." [MONDO:DesignPattern]
synonym: "disease of stomach" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of stomach" EXACT []
synonym: "disorder of stomach" EXACT [MONDO:patterns/location_top]
synonym: "disorder of stomach" RELATED [MONDO:patterns/location_top]
synonym: "gastric disease" RELATED [DOID:76]
synonym: "gastropathy" EXACT [DOID:76]
synonym: "stomach disease" EXACT [MONDO:patterns/location]
synonym: "stomach disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "stomach disorder" EXACT [DOID:76, NCIT:C26886]
xref: DOID:76 {source="MONDO:equivalentTo"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:537.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013272 {source="DOID:76", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26886 {source="DOID:76", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:29384001 {source="DOID:76", source="MONDO:kboom-pr-0.89/0.76/0.38", source="MONDO:equivalentTo"}
xref: UMLS:C0038354 {source="DOID:76", source="MONDO:equivalentTo", source="NCIT:C26886"}
is_a: MONDO:0004335 {source="DOID:76", source="MESH:D013272", source="MONDO:Redundant", source="NCIT:C26886", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease
property_value: closeMatch http://identifiers.org/snomedct/155671005
property_value: closeMatch http://identifiers.org/snomedct/183927002
property_value: closeMatch http://identifiers.org/snomedct/196598004
property_value: closeMatch http://identifiers.org/snomedct/266497000
property_value: exactMatch DOID:76
property_value: exactMatch http://identifiers.org/mesh/D013272
property_value: exactMatch http://identifiers.org/snomedct/29384001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038354
property_value: exactMatch NCIT:C26886

[Term]
id: MONDO:0004299
name: infiltrating bladder lymphoepithelioma-like carcinoma
synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [MONDO:0006252, NCIT:C39821]
xref: DOID:7600 {source="MONDO:equivalentTo"}
xref: EFO:1000302 {source="MONDO:equivalentTo"}
xref: NCIT:C39821 {source="DOID:7600", source="MONDO:equivalentTo", source="EFO:1000302", source="exact-label-match"}
xref: UMLS:C1512736 {source="DOID:7600", source="MONDO:equivalentTo", source="NCIT:C39821"}
is_a: MONDO:0003890 {source="DOID:7600", source="NCIT:C39821"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512736
property_value: exactMatch NCIT:C39821

[Term]
id: MONDO:0004300
name: obsolete intracortical osteogenic sarcoma
is_obsolete: true
replaced_by: MONDO:0002631

[Term]
id: MONDO:0004301
name: fibrosarcomatous osteosarcoma
def: "A conventional osteosarcoma characterized by the presence of spindle shaped cells." [NCIT:P378]
synonym: "fibroblastic osteogenic sarcoma" EXACT [NCIT:C4020]
synonym: "fibroblastic osteosarcoma" EXACT [NCIT:C4020]
synonym: "fibroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:7603]
synonym: "fibrosarcomatous osteogenic sarcoma" EXACT [DOID:7603, NCIT:C4020]
synonym: "fibrosarcomatous osteosarcoma" EXACT [NCIT:C4020]
synonym: "FIOS" RELATED [ONCOTREE:FIOS]
xref: DOID:7603 {source="MONDO:equivalentTo"}
xref: ICDO:9182/3 {source="NCIT:C4020"}
xref: NCIT:C4020 {source="DOID:7603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: ONCOTREE:FIOS {source="MONDO:equivalentTo"}
xref: UMLS:C0279602 {source="NCIT:C4020", source="DOID:7603", source="MONDO:equivalentTo"}
is_a: MONDO:0002631 {source="DOID:7603", source="NCIT:C4020"} ! conventional osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/12690005
property_value: exactMatch DOID:7603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279602
property_value: exactMatch NCIT:C4020

[Term]
id: MONDO:0004302
name: chief cell adenoma
def: "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei." [NCIT:P378]
synonym: "chief cell adenoma" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of parathyroid" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of parathyroid gland" EXACT [DOID:7607, NCIT:C4154]
synonym: "chief cell adenoma of the parathyroid" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of the parathyroid gland" EXACT [NCIT:C4154]
synonym: "parathyroid chief cell adenoma" EXACT [NCIT:C4154]
synonym: "parathyroid gland chief cell adenoma" EXACT [NCIT:C4154]
xref: DOID:7607 {source="MONDO:equivalentTo"}
xref: ICDO:8321/0 {source="NCIT:C4154"}
xref: NCIT:C4154 {source="MONDO:equivalentTo", source="DOID:7607", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334320 {source="NCIT:C4154", source="MONDO:equivalentTo", source="DOID:7607"}
is_a: MONDO:0006890 {source="DOID:7607", source="MONDOLEX:0004302", source="NCIT:C4154"} ! parathyroid gland adenoma
property_value: closeMatch http://identifiers.org/snomedct/12205003
property_value: exactMatch DOID:7607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334320
property_value: exactMatch NCIT:C4154

[Term]
id: MONDO:0004303
name: parathyroid gland clear cell adenoma
def: "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm." [NCIT:C7993]
synonym: "clear cell adenoma of parathyroid" EXACT [NCIT:C7993]
synonym: "clear cell adenoma of parathyroid gland" EXACT [NCIT:C7993]
synonym: "clear cell adenoma of the parathyroid" EXACT [DOID:7609, NCIT:C7993]
synonym: "clear cell adenoma of the parathyroid gland" EXACT [NCIT:C7993]
synonym: "parathyroid clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid gland clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid gland transitional clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid transitional clear cell adenoma" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of parathyroid" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of parathyroid gland" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of the parathyroid" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of the parathyroid gland" EXACT [NCIT:C7993]
xref: DOID:7609 {source="MONDO:equivalentTo"}
xref: NCIT:C7993 {source="MONDO:equivalentTo", source="DOID:7609"}
xref: UMLS:C0279700 {source="NCIT:C7993", source="MONDO:equivalentTo", source="DOID:7609"}
is_a: MONDO:0006890 {source="DOID:7609", source="MONDOLEX:0004303", source="NCIT:C7993"} ! parathyroid gland adenoma
property_value: exactMatch DOID:7609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279700
property_value: exactMatch NCIT:C7993

[Term]
id: MONDO:0004304
name: mixed cell type adenoma of parathyroid
def: "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." [NCIT:P378]
synonym: "mixed cell type adenoma of parathyroid" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of parathyroid gland" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of the parathyroid" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of the parathyroid gland" EXACT [DOID:7610, NCIT:C7994]
synonym: "parathyroid gland mixed cell type adenoma" EXACT [NCIT:C7994]
synonym: "parathyroid mixed cell type adenoma" EXACT [NCIT:C7994]
xref: DOID:7610 {source="MONDO:equivalentTo"}
xref: NCIT:C7994 {source="DOID:7610", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0279701 {source="DOID:7610", source="NCIT:C7994", source="MONDO:equivalentTo"}
is_a: MONDO:0003421 {source="NCIT:C7994"} ! mixed cell adenoma
is_a: MONDO:0006890 {source="DOID:7610", source="MONDOLEX:0004304", source="NCIT:C7994"} ! parathyroid gland adenoma
property_value: exactMatch DOID:7610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279701
property_value: exactMatch NCIT:C7994

[Term]
id: MONDO:0004305
name: parathyroid oncocytic adenoma
def: "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." [NCIT:P378]
synonym: "parathyroid gland oncocytic adenoma" EXACT [NCIT:C27393]
synonym: "parathyroid oncocytic adenoma" EXACT [NCIT:C27393]
xref: DOID:7611 {source="MONDO:equivalentTo"}
xref: NCIT:C27393 {source="DOID:7611", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335351 {source="DOID:7611", source="MONDO:equivalentTo", source="NCIT:C27393"}
is_a: MONDO:0003424 {source="MONDOLEX:0004305", source="NCIT:C27393"} ! oncocytic adenoma
is_a: MONDO:0006890 {source="DOID:7611", source="NCIT:C27393"} ! parathyroid gland adenoma
property_value: exactMatch DOID:7611
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335351
property_value: exactMatch NCIT:C27393

[Term]
id: MONDO:0004306
name: childhood intracortical osteosarcoma
def: "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." [NCIT:P378]
synonym: "childhood conventional osteosarcoma" EXACT [NCIT:C6590]
synonym: "childhood intracortical osteosarcoma" EXACT [NCIT:C6590]
xref: DOID:7612 {source="MONDO:equivalentTo"}
xref: NCIT:C6590 {source="DOID:7612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1332974 {source="DOID:7612", source="MONDO:equivalentTo", source="NCIT:C6590"}
is_a: MONDO:0002623 {source="MONDOLEX:0004306", source="NCIT:C6590"} ! pediatric osteosarcoma
is_a: MONDO:0002631 {source="DOID:7612", source="DOID:7612/inferred", source="MONDO:Redundant", source="NCIT:C6590", source="indirect"} ! conventional osteosarcoma
property_value: exactMatch DOID:7612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332974
property_value: exactMatch NCIT:C6590

[Term]
id: MONDO:0004307
name: sarcomatosis of the meninges
def: "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis." [NCIT:P378]
synonym: "meningeal cluster sarcomatosis" EXACT [MONDO:patterns/location]
synonym: "meningeal sarcomatosis" EXACT [NCIT:C4334]
synonym: "meningeal sarcomatosis (morphologic abnormality)" EXACT [DOID:7613]
synonym: "meninges sarcomatosis" EXACT [NCIT:C4334]
synonym: "sarcomatosis of meninges" EXACT [DOID:7613, NCIT:C4334]
synonym: "sarcomatosis of the meninges" EXACT [NCIT:C4334]
xref: DOID:7613 {source="MONDO:equivalentTo"}
xref: ICDO:9539/3 {source="NCIT:C4334"}
xref: NCIT:C4334 {source="DOID:7613", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334612 {source="DOID:7613", source="MONDO:equivalentTo", source="NCIT:C4334"}
is_a: MONDO:0004308 {source="DOID:7613", source="MONDO:Redundant", source="NCIT:C4334"} ! meningeal sarcoma
is_a: MONDO:0004309 {source="DOID:7613", source="MONDO:Redundant", source="MONDOLEX:0004307", source="NCIT:C4334"} ! sarcomatosis
property_value: closeMatch http://identifiers.org/snomedct/14494009
property_value: exactMatch DOID:7613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334612
property_value: exactMatch NCIT:C4334

[Term]
id: MONDO:0004308
name: meningeal sarcoma
def: "A rare sarcoma arising from the meninges." [NCIT:P378]
synonym: "meningeal cluster sarcoma" EXACT [MONDO:patterns/location]
synonym: "meningeal sarcoma" EXACT [DOID:7614, NCIT:C4073]
synonym: "meninges sarcoma" EXACT [NCIT:C4073]
synonym: "sarcoma of meningeal cluster" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of meninges" EXACT [DOID:7614, NCIT:C4073]
synonym: "sarcoma of the meninges" EXACT [NCIT:C4073]
xref: DOID:7614 {source="MONDO:equivalentTo"}
xref: NCIT:C4073 {source="DOID:7614", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:C0302327 {source="NCIT:C4073", source="DOID:7614", source="MONDO:equivalentTo"}
is_a: MONDO:0002217 {source="DOID:7614", source="MONDO:Redundant", source="NCIT:C4073"} ! central nervous system sarcoma
is_a: MONDO:0021322 {source="MONDO:Redundant", source="NCIT:C4073"} ! malignant tumor of meninges
relationship: excluded_subClassOf MONDO:0016642 {source="DOID:7614"} ! meningioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/277996009
property_value: closeMatch http://identifiers.org/snomedct/78303004
property_value: exactMatch DOID:7614
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302327
property_value: exactMatch NCIT:C4073

[Term]
id: MONDO:0004309
name: sarcomatosis
def: "The occurrence of several sarcomas in different anatomic locations." [NCIT:C4243]
synonym: "sarcomatosis" EXACT [NCIT:C4243]
synonym: "sarcomatosis (morphologic abnormality)" EXACT [DOID:7615]
synonym: "sarcomatosis NOS (morphologic abnormality)" EXACT [DOID:7615]
xref: DOID:7615 {source="MONDO:equivalentTo"}
xref: ICDO:8800/9 {source="NCIT:C4243"}
xref: NCIT:C4243 {source="MONDO:equivalentTo", source="DOID:7615", source="exact-label-match"}
xref: UMLS:C0334451 {source="NCIT:C4243", source="MONDO:equivalentTo", source="DOID:7615"}
is_a: MONDO:0005089 {source="DOID:7615", source="NCIT:C4243/inferred"} ! sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189765009
property_value: closeMatch http://identifiers.org/snomedct/9395006
property_value: exactMatch DOID:7615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334451
property_value: exactMatch NCIT:C4243

[Term]
id: MONDO:0004310
name: adult embryonal tumor with multilayered rosettes, c19mc-altered
def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." [NCIT:C8290]
synonym: "adult embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C8290]
synonym: "adult ependymoblastoma" EXACT [NCIT:C8290]
synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C8290]
synonym: "ependymoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7631 {source="MONDO:equivalentTo"}
xref: NCIT:C8290 {source="DOID:7631", source="MONDO:equivalentTo"}
xref: UMLS:C0281330 {source="DOID:7631", source="MONDO:equivalentTo", source="NCIT:C8290"}
is_a: MONDO:0002795 ! adult central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0016715 {source="DOID:7631", source="MONDO:Redundant", source="NCIT:C8290"} ! ependymoblastoma
property_value: exactMatch DOID:7631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281330
property_value: exactMatch NCIT:C8290

[Term]
id: MONDO:0004311
name: carcinoma of Cowper glands
def: "A carcinoma that involves the bulbo-urethral gland." [MONDO:patterns/location]
synonym: "bulbo-urethral gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bulbo-urethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of Cowper glands" EXACT [NCIT:C39864]
synonym: "Cowper gland carcinoma" RELATED [DOID:7632]
xref: DOID:7632 {source="MONDO:equivalentTo"}
xref: NCIT:C39864 {source="DOID:7632", source="MONDO:equivalentTo"}
xref: UMLS:C1516284 {source="DOID:7632", source="MONDO:equivalentTo", source="NCIT:C39864"}
is_a: MONDO:0003975 {source="MONDO:Redundant", source="NCIT:C39864", source="OWLReasoner:2017"} ! Littre gland carcinoma
is_a: MONDO:0005836 ! male reproductive organ cancer
property_value: exactMatch DOID:7632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516284
property_value: exactMatch NCIT:C39864

[Term]
id: MONDO:0004312
name: suprasellar meningioma
def: "A meningioma that affects the suprasellar region." [NCIT:P378]
synonym: "meningioma (disease) of sella turcica" EXACT []
synonym: "sella turcica meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:7634 {source="MONDO:equivalentTo"}
xref: NCIT:C6776 {source="DOID:7634", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336535 {source="DOID:7634", source="MONDO:equivalentTo", source="NCIT:C6776"}
is_a: MONDO:0002998 ! skull base meningioma
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:7634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336535
property_value: exactMatch NCIT:C6776

[Term]
id: MONDO:0004313
name: gasserian ganglion meningioma
def: "A meningioma that affects the trigeminal ganglion." [NCIT:P378]
synonym: "gasserian ganglion meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "Gasserian meningioma" EXACT [NCIT:C6779]
synonym: "meningioma (disease) of gasserian ganglion" EXACT []
synonym: "meningioma of Gasserian ganglion" EXACT [DOID:7635, NCIT:C6779]
synonym: "meningioma of the Gasserian ganglion" EXACT [NCIT:C6779]
xref: DOID:7635 {source="MONDO:equivalentTo"}
xref: NCIT:C6779 {source="DOID:7635", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333760 {source="DOID:7635", source="MONDO:equivalentTo", source="NCIT:C6779"}
is_a: MONDO:0016642 {source="DOID:7635", source="MONDO:Redundant", source="MONDOLEX:0004313", source="NCIT:C6779/inferred"} ! meningioma (disease)
property_value: exactMatch DOID:7635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333760
property_value: exactMatch NCIT:C6779

[Term]
id: MONDO:0004314
name: malignant cutaneous granular cell skin tumor
synonym: "malignant cutaneous granular cell tumor" EXACT [NCIT:C5614]
synonym: "malignant granular cell neoplasm of skin" EXACT [NCIT:C5614]
synonym: "malignant granular cell neoplasm of the skin" EXACT [NCIT:C5614]
synonym: "malignant granular cell skin neoplasm" EXACT [DOID:7639, NCIT:C5614]
synonym: "malignant granular cell skin tumor" EXACT [NCIT:C5614]
synonym: "malignant granular cell tumor of skin" EXACT [DOID:7639, NCIT:C5614]
synonym: "malignant granular cell tumor of the skin" EXACT [NCIT:C5614]
xref: DOID:7639 {source="MONDO:equivalentTo"}
xref: NCIT:C5614 {source="MONDO:equivalentTo", source="DOID:7639", source="MONDO:kboom-pr-1.00/0.91/23.83"}
xref: UMLS:C1334575 {source="MONDO:equivalentTo", source="DOID:7639", source="NCIT:C5614"}
is_a: MONDO:0002291 {source="MONDO:Redundant", source="MONDOLEX:0004314", source="NCIT:C5614", source="OWLReasoner:2017"} ! cutaneous granular cell tumor
is_a: MONDO:0003252 {source="MONDO:Redundant", source="MONDOLEX:0004314", source="NCIT:C5614", source="OWLReasoner:2017"} ! granular cell cancer
is_a: MONDO:0003363 {source="DOID:7639", source="MONDO:Redundant", source="NCIT:C5614"} ! malignant dermis tumor
property_value: exactMatch DOID:7639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334575
property_value: exactMatch NCIT:C5614

[Term]
id: MONDO:0004315
name: cholangiolocellular carcinoma
def: "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." [NCIT:C41617]
synonym: "cholangiocarcinoma of intralobular bile duct" EXACT [MONDO:design_pattern]
synonym: "cholangiolocellular carcinoma" EXACT [NCIT:C41617]
synonym: "CLC" EXACT [NCIT:C41617]
synonym: "intralobular bile duct cholangiocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7642 {source="MONDO:equivalentTo"}
xref: NCIT:C41617 {source="DOID:7642", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516490 {source="DOID:7642", source="NCIT:C41617", source="MONDO:equivalentTo"}
is_a: MONDO:0002176 ! connective tissue cancer
is_a: MONDO:0003210 {source="DOID:7642", source="NCIT:C41617"} ! intrahepatic cholangiocarcinoma
property_value: exactMatch DOID:7642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516490
property_value: exactMatch NCIT:C41617

[Term]
id: MONDO:0004316
name: acantholytic squamous cell skin carcinoma
def: "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." [NCIT:P378]
synonym: "acantholytic squamous cell carcinoma of skin" RELATED [DOID:7643]
synonym: "acantholytic squamous cell carcinoma of the skin" EXACT [NCIT:C4460]
synonym: "acantholytic squamous cell skin carcinoma" EXACT [DOID:7643, NCIT:C4460]
xref: DOID:7643 {source="MONDO:equivalentTo"}
xref: NCIT:C4460 {source="DOID:7643", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:254654004 {source="DOID:7643", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345979 {source="DOID:7643", source="NCIT:C4460", source="MONDO:equivalentTo"}
is_a: MONDO:0002529 {source="DOID:7643", source="MONDOLEX:0004316", source="NCIT:C4460", source="linkedlifedata"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4460"} ! keratinizing squamous cell carcinoma
property_value: exactMatch DOID:7643
property_value: exactMatch http://identifiers.org/snomedct/254654004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345979
property_value: exactMatch NCIT:C4460

[Term]
id: MONDO:0004317
name: multiple spinal canal and spinal cord meningioma
def: "Multiple meningiomas that arises from the spinal meninges." [NCIT:P378]
synonym: "multiple intraspinal Meningiomas" EXACT [NCIT:C5275]
synonym: "multiple Meningiomas of spinal canal and spinal cord" EXACT [NCIT:C5275]
synonym: "multiple meningiomas of the spinal canal and spinal cord" EXACT [DOID:7646, NCIT:C5275]
synonym: "multiple spinal canal and spinal cord Meningiomas" EXACT [NCIT:C5275]
xref: DOID:7646 {source="MONDO:equivalentTo"}
xref: NCIT:C5275 {source="DOID:7646", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334825 {source="NCIT:C5275", source="DOID:7646", source="MONDO:equivalentTo"}
is_a: MONDO:0001279 {source="DOID:7646", source="MONDOLEX:0004317", source="NCIT:C5275"} ! intraspinal meningioma
property_value: exactMatch DOID:7646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334825
property_value: exactMatch NCIT:C5275

[Term]
id: MONDO:0004318
name: pulmonary type ovarian small cell carcinoma
def: "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." [NCIT:C40440]
synonym: "ovarian small cell carcinoma, pulmonary type" EXACT [NCIT:C40440]
xref: DOID:7650 {source="MONDO:equivalentTo"}
xref: NCIT:C40440 {source="MONDO:equivalentTo", source="DOID:7650", source="exact-label-match"}
xref: UMLS:C1518737 {source="MONDO:equivalentTo", source="NCIT:C40440", source="DOID:7650"}
is_a: MONDO:0003795 {source="DOID:7650", source="MONDOLEX:0004318", source="NCIT:C40440"} ! ovarian small cell carcinoma
property_value: exactMatch DOID:7650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518737
property_value: exactMatch NCIT:C40440

[Term]
id: MONDO:0004319
name: hypercalcemic type ovarian small cell carcinoma
def: "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." [NCIT:P378]
synonym: "ovarian small cell carcinoma, hypercalcemic type" EXACT [NCIT:C40439]
synonym: "SCCOHT" EXACT [NCIT:C40439]
xref: DOID:7651 {source="MONDO:equivalentTo"}
xref: NCIT:C40439 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo", source="DOID:7651"}
xref: UMLS:C1518736 {source="NCIT:C40439", source="MONDO:equivalentTo", source="DOID:7651"}
is_a: MONDO:0003795 {source="DOID:7651", source="MONDOLEX:0004319", source="NCIT:C40439"} ! ovarian small cell carcinoma
property_value: exactMatch DOID:7651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518736
property_value: exactMatch NCIT:C40439

[Term]
id: MONDO:0004320
name: adult infiltrating astrocytic neoplasm
synonym: "adult infiltrating astrocytic neoplasm" EXACT [NCIT:C8289]
synonym: "adult infiltrating astrocytic tumor" EXACT [DOID:7656, NCIT:C8289]
synonym: "adult infiltrating astrocytoma" NARROW [DOID:7656, MTH:NOCODE]
xref: DOID:7656 {source="MONDO:equivalentTo"}
xref: NCIT:C8289 {source="DOID:7656", source="MONDO:equivalentTo"}
xref: UMLS:C0281329 {source="DOID:7656", source="MONDO:equivalentTo"}
is_a: MONDO:0002503 {source="DOID:7656", source="NCIT:C8289"} ! adult astrocytic tumour
property_value: exactMatch DOID:7656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281329
property_value: exactMatch NCIT:C8289

[Term]
id: MONDO:0004321
name: endometrial mixed adenocarcinoma
def: "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." [NCIT:C40153]
synonym: "endometrial mixed adenocarcinoma" EXACT [NCIT:C40153]
xref: DOID:7664 {source="MONDO:equivalentTo"}
xref: NCIT:C40153 {source="DOID:7664", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516856 {source="DOID:7664", source="MONDO:equivalentTo", source="NCIT:C40153"}
is_a: MONDO:0005461 {source="DOID:7664", source="NCIT:C40153"} ! endometrium adenocarcinoma
property_value: exactMatch DOID:7664
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516856
property_value: exactMatch NCIT:C40153

[Term]
id: MONDO:0004322
name: non-gestational ovarian choriocarcinoma
def: "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." [NCIT:C39991]
xref: DOID:7665 {source="MONDO:equivalentTo"}
xref: NCIT:C39991 {source="DOID:7665", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1518355 {source="DOID:7665", source="NCIT:C39991", source="MONDO:equivalentTo"}
is_a: MONDO:0003408 {source="DOID:7665", source="NCIT:C39991/inferred"} ! ovarian primitive germ cell tumor
is_a: MONDO:0003507 {source="DOID:7665", source="MONDOLEX:0004322", source="NCIT:C39991"} ! choriocarcinoma of ovary
property_value: exactMatch DOID:7665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518355
property_value: exactMatch NCIT:C39991

[Term]
id: MONDO:0004323
name: muscular atrophy
def: "The loss of muscle tissue due to inactivity or disease." [NCIT:P378]
synonym: "amyotrophia" EXACT [DOID:767, MTHICD9_2006:728.2]
synonym: "muscle wasting" EXACT [DOID:767]
synonym: "wasting - muscle" EXACT [DOID:767]
xref: DOID:767 {source="MONDO:equivalentTo"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009133 {source="DOID:767", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:88092000 {source="DOID:767", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0005336 {source="DOID:767", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy
property_value: closeMatch http://identifiers.org/snomedct/155014006
property_value: closeMatch http://identifiers.org/snomedct/156721007
property_value: closeMatch http://identifiers.org/snomedct/203036002
property_value: closeMatch http://identifiers.org/snomedct/249827008
property_value: closeMatch http://identifiers.org/snomedct/267693003
property_value: closeMatch http://identifiers.org/snomedct/268104000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026846
property_value: exactMatch DOID:767
property_value: exactMatch http://identifiers.org/mesh/D009133
property_value: exactMatch http://identifiers.org/snomedct/88092000
property_value: exactMatch NCIT:C94834

[Term]
id: MONDO:0004324
name: testicular fibroma
def: "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization." [NCIT:P378]
xref: DOID:7675 {source="MONDO:equivalentTo"}
xref: NCIT:C39951 {source="DOID:7675", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1515282 {source="DOID:7675", source="NCIT:C39951", source="MONDO:equivalentTo"}
is_a: MONDO:0003125 {source="DOID:7675", source="NCIT:C39951/inferred"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C39951"} ! fibroma
property_value: exactMatch DOID:7675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515282
property_value: exactMatch NCIT:C39951

[Term]
id: MONDO:0004325
name: testicular thecoma
def: "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells." [NCIT:P378]
synonym: "testis thecoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thecoma of testis" EXACT [MONDO:design_pattern]
xref: DOID:7676 {source="MONDO:equivalentTo"}
xref: NCIT:C39952 {source="DOID:7676", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1515299 {source="DOID:7676", source="MONDO:equivalentTo", source="NCIT:C39952"}
is_a: MONDO:0003125 {source="DOID:7676", source="MONDO:Redundant", source="NCIT:C39952/inferred"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0037252 ! thecoma
property_value: exactMatch DOID:7676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515299
property_value: exactMatch NCIT:C39952

[Term]
id: MONDO:0004326
name: sphenoid sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:P378]
synonym: "inverted papilloma of sphenoid sinus" EXACT [NCIT:C6841]
synonym: "inverted papilloma of the sphenoid sinus" EXACT [DOID:7678, NCIT:C6841]
synonym: "sphenoidal sinus inverted papilloma" EXACT [MONDO:patterns/location]
xref: DOID:7678 {source="MONDO:equivalentTo"}
xref: NCIT:C6841 {source="DOID:7678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336037 {source="DOID:7678", source="MONDO:equivalentTo", source="NCIT:C6841"}
is_a: MONDO:0002537 {source="DOID:7678", source="MONDO:Redundant", source="MONDOLEX:0004326", source="NCIT:C6841/inferred"} ! inverted papilloma
is_a: MONDO:0004327 {source="NCIT:C6841"} ! sphenoid sinus Schneiderian papilloma
property_value: exactMatch DOID:7678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336037
property_value: exactMatch NCIT:C6841

[Term]
id: MONDO:0004327
name: sphenoid sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6838]
synonym: "Schneiderian papilloma of sphenoid sinus" RELATED [NCIT:C6838]
synonym: "Schneiderian papilloma of the sphenoid sinus" EXACT [DOID:7679, NCIT:C6838]
synonym: "sphenoid sinus Schneiderian papilloma" EXACT [NCIT:C6838]
xref: DOID:7679 {source="MONDO:equivalentTo"}
xref: NCIT:C6838 {source="DOID:7679", source="MONDO:equivalentTo", source="NCIT:C6838"}
xref: UMLS:C1336038 {source="DOID:7679", source="MONDO:equivalentTo", source="NCIT:C6838"}
is_a: MONDO:0006353 {source="NCIT:C6838"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021477 {source="MONDO:Redundant", source="NCIT:C6838"} ! benign neoplasm of sphenoidal sinus
property_value: exactMatch DOID:7679
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336038
property_value: exactMatch NCIT:C6838

[Term]
id: MONDO:0004328
name: maxillary sinus adenocarcinoma
def: "An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs." [NCIT:C6240]
synonym: "adenocarcinoma of maxillary sinus" RELATED [DOID:7684, NCIT:C6240]
synonym: "adenocarcinoma of the maxillary sinus" EXACT [DOID:7684, NCIT:C6240]
synonym: "maxillary sinus adenocarcinoma" EXACT [NCIT:C6240]
xref: DOID:7684 {source="MONDO:equivalentTo"}
xref: NCIT:C6240 {source="MONDO:equivalentTo", source="DOID:7684"}
xref: SCTID:707339009 {source="MONDO:kboom-pr-1.00/0.79/7.99", source="MONDO:equivalentTo"}
xref: UMLS:C1334642 {source="NCIT:C6240", source="MONDO:equivalentTo", source="DOID:7684"}
is_a: MONDO:0001748 {source="DOID:7684", source="MONDO:Redundant", source="NCIT:C6240", source="NCIT:C6240/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! maxillary sinus carcinoma
is_a: MONDO:0004970 {source="DOID:7684/inferred", source="MONDO:Redundant", source="MONDOLEX:0004328", source="NCIT:C6240/inferred", source="linkedlifedata/inferred"} ! adenocarcinoma
property_value: exactMatch DOID:7684
property_value: exactMatch http://identifiers.org/snomedct/707339009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334642
property_value: exactMatch NCIT:C6240

[Term]
id: MONDO:0004329
name: pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia
def: "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present." [NCIT:C41251]
synonym: "pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251]
synonym: "pancreatic non-invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C41251]
xref: DOID:7685 {source="MONDO:equivalentTo"}
xref: ICDO:8453/2 {source="NCIT:C41251"}
xref: NCIT:C41251 {source="MONDO:equivalentTo", source="NCIT:C41251", source="DOID:7685"}
xref: UMLS:C1518873 {source="MONDO:equivalentTo", source="DOID:7685"}
is_a: MONDO:0004285 {source="DOID:7685"} ! pancreatic intraductal papillary-mucinous carcinoma
is_a: MONDO:0004286 {source="DOID:7685/inferred", source="NCIT:C41251"} ! pancreatic intraductal papillary-mucinous neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3532881
property_value: exactMatch DOID:7685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518873
property_value: exactMatch NCIT:C41251

[Term]
id: MONDO:0004330
name: leptomeningeal sarcoma
def: "A sarcoma arising from the leptomeninges." [NCIT:C8312]
synonym: "leptomeningeal sarcoma" EXACT [DOID:7689, NCIT:C8312]
synonym: "leptomeninges sarcoma" RELATED [DOID:7689]
synonym: "leptomeninx sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of leptomeninges" EXACT [DOID:7689, NCIT:C8312]
synonym: "sarcoma of leptomeninx" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the leptomeninges" EXACT [NCIT:C8312]
synonym: "sarcoma, leptomeningeal, malignant" EXACT [NCIT:C8312]
synonym: "sarcoma, meningeal" EXACT [NCIT:C8312]
xref: DOID:7689 {source="MONDO:equivalentTo"}
xref: NCIT:C8312 {source="DOID:7689", source="MONDO:equivalentTo"}
xref: UMLS:C1384416 {source="DOID:7689", source="NCIT:C8312", source="MONDO:equivalentTo"}
is_a: MONDO:0003762 {source="DOID:7689", source="MONDO:Redundant", source="NCIT:C8312"} ! malignant leptomeningeal tumor
is_a: MONDO:0004308 {source="MONDO:Redundant", source="NCIT:C8312"} ! meningeal sarcoma
property_value: closeMatch http://identifiers.org/snomedct/78303004
property_value: exactMatch DOID:7689
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384416
property_value: exactMatch NCIT:C8312

[Term]
id: MONDO:0004331
name: bladder urachal adenocarcinoma
def: "A adenocarcinoma that involves the urachus." [MONDO:patterns/location]
subset: gard_rare
synonym: "adenocarcinoma of the urachus" RELATED [GARD:0010186]
synonym: "bladder urachal adenocarcinoma" EXACT [NCIT:C39843]
synonym: "urachal adenocarcinoma" RELATED [ONCOTREE:UA]
synonym: "urachus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7694 {source="MONDO:equivalentTo"}
xref: GARD:0010186 {source="MONDO:equivalentTo"}
xref: MESH:C536474 {source="MONDO:equivalentTo"}
xref: NCIT:C39843 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"}
xref: ONCOTREE:UA {source="MONDO:equivalentTo"}
xref: UMLS:C1511204 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"}
is_a: MONDO:0001378 ! urachus cancer
is_a: MONDO:0002751 {source="MONDO:Redundant", source="NCIT:C39843"} ! bladder adenocarcinoma
is_a: MONDO:0003715 {source="DOID:7694", source="NCIT:C39843", source="ONCOTREE:UA"} ! bladder urachal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931201
property_value: exactMatch DOID:7694
property_value: exactMatch http://identifiers.org/mesh/C536474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511204
property_value: exactMatch NCIT:C39843

[Term]
id: MONDO:0004332
name: lung hilum cancer
def: "A malignant neoplasm involving the lung hilus." [MONDO:DesignPattern]
synonym: "cancer of lung hilus" EXACT [MONDO:patterns/cancer]
synonym: "lung hilus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hilar lung neoplasm" EXACT [NCIT:C4566]
synonym: "malignant hilar lung tumor" EXACT [NCIT:C4566]
synonym: "malignant lung hilum neoplasm" EXACT [NCIT:C4566]
synonym: "malignant lung hilum tumor" EXACT [NCIT:C4566]
synonym: "malignant lung hilus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lung hilum" EXACT [NCIT:C4566]
synonym: "malignant neoplasm of lung hilus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the lung hilum" EXACT [NCIT:C4566]
synonym: "malignant tumor of lung hilum" EXACT [DOID:7696, NCIT:C4566]
synonym: "malignant tumor of the lung hilum" EXACT [NCIT:C4566]
synonym: "primary malignant neoplasm of hilus of lung" EXACT [DOID:7696]
xref: DOID:7696 {source="MONDO:equivalentTo"}
xref: NCIT:C4566 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.74/3.46"}
xref: SCTID:93827000 {source="MONDO:equivalentTo", source="DOID:7696", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346601 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:7696"}
xref: UMLS:C2607931 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4566"}
is_a: MONDO:0003639 {source="MONDO:Redundant", source="MONDOLEX:0004332", source="NCIT:C4566", source="linkedlifedata"} ! lung hilum neoplasm
is_a: MONDO:0008903 {source="DOID:7696", source="MONDO:Redundant", source="MONDOLEX:0004332", source="NCIT:C4566", source="linkedlifedata", source="linkedlifedata/inferred"} ! lung cancer
property_value: exactMatch DOID:7696
property_value: exactMatch http://identifiers.org/snomedct/93827000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607931
property_value: exactMatch NCIT:C4566

[Term]
id: MONDO:0004333
name: pancreatic ACTH-producing neuroendocrine tumor
def: "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." [NCIT:C27466]
synonym: "pancreatic ACTH hormone producing tumor" RELATED [DOID:7697]
synonym: "pancreatic ACTH producing NET" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH producing neuroendocrine tumor" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH producing tumor" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH-producing neuroendocrine tumor" EXACT [NCIT:C27466]
synonym: "pancreatic adrenocorticotropic hormone producing tumor" EXACT [DOID:7697, NCIT:C27466]
xref: DOID:7697 {source="MONDO:equivalentTo"}
xref: ICDO:8158/1 {source="NCIT:C27466"}
xref: NCIT:C27466 {source="DOID:7697", source="MONDO:equivalentTo"}
xref: UMLS:C1335300 {source="DOID:7697", source="NCIT:C27466", source="MONDO:equivalentTo"}
is_a: MONDO:0023206 {source="MONDO:Redundant", source="NCIT:C27466/inferred"} ! functional pancreatic neuroendocrine tumor
relationship: disease_has_feature MONDO:0018912 ! Cushing syndrome
property_value: exactMatch DOID:7697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335300
property_value: exactMatch NCIT:C27466

[Term]
id: MONDO:0004334
name: non-functional pancreatic neuroendocrine tumor
def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." [NCIT:C45837]
subset: gard_rare {source="GARD:0004002"}
subset: ordo_disease
synonym: "inactive pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "non functioning pancreatic endocrine tumor" RELATED [GARD:0004002]
synonym: "non-functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning endocrine pancreatic tumors" RELATED [GARD:0004002]
synonym: "non-functioning EPTs" RELATED [GARD:0004002]
synonym: "non-functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506075]
synonym: "non-functioning pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning pancreatic NET" EXACT [NCIT:C45837, Orphanet:506075]
synonym: "non-functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45837, Orphanet:506075]
synonym: "non-functioning PNET" EXACT [Orphanet:506075]
synonym: "non-functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506075]
synonym: "non-syndromic pancreatic NET" EXACT [NCIT:C45837]
synonym: "non-syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "nonfunctional pancreatic NET" EXACT [NCIT:C45837]
synonym: "nonfunctional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "nonsyndromic pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "nonsyndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
xref: DOID:7698 {source="MONDO:equivalentTo"}
xref: EFO:1000398 {source="MONDO:equivalentTo"}
xref: GARD:0004002 {source="MONDO:equivalentTo"}
xref: ICDO:8150/3 {source="NCIT:C45837"}
xref: MESH:C536126 {source="DOID:7698", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C45837 {source="DOID:7698", source="MONDO:equivalentTo"}
xref: Orphanet:506075 {source="MONDO:equivalentTo"}
xref: UMLS:C1334977 {source="DOID:7698", source="NCIT:C45837", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019954 {source="MONDO:Redundant", source="MONDOLEX:0004334", source="NCIT:C45837", source="Orphanet:506075"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0021119 {source="NCIT:C45837"} ! non-functioning endocrine neoplasm
property_value: exactMatch DOID:7698
property_value: exactMatch http://identifiers.org/mesh/C536126
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334977
property_value: exactMatch NCIT:C45837
property_value: exactMatch Orphanet:506075
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor xsd:anyURI {source="GARD:0004002"}

[Term]
id: MONDO:0004335
name: digestive system disease
def: "A disease or disorder that involves the digestive system." [MONDO:design_pattern]
synonym: "alimentary system disease" EXACT [DOID:77]
synonym: "digestive disease" EXACT [NCIT:C2990]
synonym: "digestive system disease" EXACT [NCIT:C2990]
synonym: "digestive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "digestive system disorder" EXACT [DOID:77, NCIT:C2990]
synonym: "disease of digestive system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of digestive system" EXACT []
synonym: "disorder of digestive system" EXACT [MONDO:patterns/location_top, NCIT:C2990]
synonym: "disorder of digestive system" RELATED [MONDO:patterns/location_top]
synonym: "gastroenterological system disease" EXACT [MONDO:cjm]
synonym: "gastroenterological system disorder" EXACT [MONDO:cjm]
synonym: "gastroenteropathy" EXACT [DOID:77]
synonym: "gastrointestinal disease" EXACT [DOID:77]
synonym: "gastrointestinal disorder" EXACT [CSP2005:1248-3545, DOID:77, NCIT:C2990]
synonym: "gastrointestinal system disease" EXACT [NCIT:C2990]
synonym: "gastrointestinal system disorder" EXACT [NCIT:C2990]
synonym: "git disease" EXACT [DOID:77]
synonym: "stomach or intestinal disorder" EXACT [NCIT:C2990]
xref: COHD:4201745 {source="MONDO:equivalentTo"}
xref: DOID:77 {source="MONDO:equivalentTo"}
xref: EFO:0000405 {source="MONDO:equivalentTo"}
xref: ICD10:K92.9 {source="DOID:77"}
xref: ICD9:520-579.99 {source="DOID:77"}
xref: ICD9:V47.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005767 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2990 {source="MONDO:equivalentTo"}
xref: SCTID:53619000 {source="DOID:77", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.38"}
is_a: MONDO:0021199 {source="DOID:77", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/mesh/D004066
property_value: closeMatch http://identifiers.org/snomedct/155629009
property_value: closeMatch http://identifiers.org/snomedct/155847001
property_value: closeMatch http://identifiers.org/snomedct/197575000
property_value: closeMatch http://identifiers.org/snomedct/266483008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0012242
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017178
property_value: exactMatch DOID:77
property_value: exactMatch http://identifiers.org/mesh/D005767
property_value: exactMatch http://identifiers.org/snomedct/53619000
property_value: exactMatch NCIT:C2990

[Term]
id: MONDO:0004336
name: rectal signet ring cell adenocarcinoma
def: "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." [NCIT:C9168]
synonym: "rectal signet Ring cell adenocarcinoma" EXACT [NCIT:C9168]
synonym: "rectum signet ring adenocarcinoma" RELATED [DOID:7707]
synonym: "rectum signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "signet Ring adenocarcinoma of rectum" EXACT [NCIT:C9168]
synonym: "signet Ring adenocarcinoma of the rectum" EXACT [NCIT:C9168]
synonym: "signet Ring cell adenocarcinoma of rectum" EXACT [DOID:7707, NCIT:C9168]
synonym: "signet Ring cell adenocarcinoma of the rectum" EXACT [NCIT:C9168]
xref: DOID:7707 {source="MONDO:equivalentTo"}
xref: NCIT:C9168 {source="MONDO:equivalentTo", source="DOID:7707"}
xref: UMLS:C0279654 {source="NCIT:C9168", source="MONDO:equivalentTo", source="DOID:7707"}
is_a: MONDO:0002169 {source="DOID:7707", source="MONDO:Redundant", source="MONDOLEX:0004336", source="NCIT:C9168"} ! rectum adenocarcinoma
is_a: MONDO:0044336 ! colorectal signet ring cell carcinoma
property_value: exactMatch DOID:7707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279654
property_value: exactMatch NCIT:C9168

[Term]
id: MONDO:0004337
name: perianal skin Paget disease
def: "Paget disease involving the perianal skin." [NCIT:C7476]
synonym: "anal margin Paget's disease" EXACT [NCIT:C7476]
synonym: "Paget disease of the anal margin" EXACT [NCIT:C7476]
synonym: "Paget's disease of the anal margin" EXACT [NCIT:C7476]
synonym: "perianal skin mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "perianal skin Paget disease" EXACT [DOID:7708, MONDO:patterns/location]
synonym: "perianal skin Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7476]
xref: DOID:7708 {source="MONDO:equivalentTo"}
xref: NCIT:C7476 {source="MONDO:equivalentTo", source="DOID:7708", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332270 {source="NCIT:C7476", source="MONDO:equivalentTo", source="DOID:7708"}
is_a: MONDO:0002651 {source="DOID:7708", source="MONDO:Redundant", source="NCIT:C7476"} ! anal Paget disease
is_a: MONDO:0002655 ! cutaneous Paget disease
is_a: MONDO:0002941 {source="DOID:7708", source="MONDO:Redundant", source="NCIT:C7476"} ! anal margin carcinoma
property_value: exactMatch DOID:7708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332270
property_value: exactMatch NCIT:C7476

[Term]
id: MONDO:0004338
name: retinal cell cancer
synonym: "cancer of retinal cell" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retinal cell" EXACT [MONDO:patterns/cancer]
synonym: "malignant retinal cell neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "retinal cell cancer" EXACT [MONDO:patterns/location]
xref: DOID:771 {source="MONDO:equivalentTo"}
is_a: MONDO:0003072 {source="DOID:771", source="MONDO:Redundant", source="MONDOLEX:0004338"} ! retinal cancer
is_a: MONDO:0024341 ! retinal cell neoplasm
property_value: exactMatch DOID:771

[Term]
id: MONDO:0004339
name: tuberculum sellae meningioma
def: "A meningioma that affects the tuberculum sellae." [NCIT:P378]
synonym: "meningioma of the tuberculum sellae" EXACT [DOID:7713, NCIT:C5284]
synonym: "meningioma of tuberculum sellae" EXACT [NCIT:C5284]
synonym: "sella turcica neoplasm of tuberculum sellae" EXACT [MONDO:design_pattern]
synonym: "tuberculum sellae sella turcica neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:7713 {source="MONDO:equivalentTo"}
xref: NCIT:C5284 {source="DOID:7713", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336829 {source="NCIT:C5284", source="DOID:7713", source="MONDO:equivalentTo"}
is_a: MONDO:0002720 {source="DOID:7713", source="MONDO:Redundant", source="NCIT:C5284"} ! sella turcica neoplasm
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:7713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336829
property_value: exactMatch NCIT:C5284

[Term]
id: MONDO:0004340
name: mixed ductal-endocrine carcinoma of pancreas
def: "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." [NCIT:P378]
synonym: "mixed ductal-endocrine carcinoma" RELATED [DOID:7716]
synonym: "mixed ductal-endocrine carcinoma of the pancreas" EXACT [NCIT:C6879]
synonym: "mixed ductal-neuroendocrine carcinoma of the pancreas" EXACT [NCIT:C6879]
xref: DOID:7716 {source="MONDO:equivalentTo"}
xref: NCIT:C6879 {source="MONDO:equivalentTo", source="DOID:7716", source="MONDO:kboom-pr-1.00/0.91/29.60"}
xref: UMLS:C1301048 {source="MONDO:equivalentTo", source="DOID:7716", source="NCIT:C6879"}
is_a: MONDO:0005184 {source="DOID:7716"} ! pancreatic ductal adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/396892009
property_value: closeMatch http://identifiers.org/snomedct/999000
property_value: exactMatch DOID:7716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301048
property_value: exactMatch NCIT:C6879

[Term]
id: MONDO:0004341
name: colloid carcinoma of the pancreas
def: "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei." [NCIT:C37214]
synonym: "colloid carcinoma of the pancreas" EXACT [NCIT:C37214]
synonym: "mucinous Noncystic carcinoma" EXACT [NCIT:C37214]
synonym: "pancreatic mucinous Noncystic carcinoma" EXACT [NCIT:C37214]
xref: DOID:7717 {source="MONDO:equivalentTo"}
xref: NCIT:C37214 {source="MONDO:equivalentTo", source="DOID:7717", source="exact-label-match"}
xref: UMLS:C1333081 {source="MONDO:equivalentTo", source="NCIT:C37214", source="DOID:7717"}
is_a: MONDO:0004957 {source="MONDOLEX:0004341", source="NCIT:C37214"} ! mucinous adenocarcinoma
is_a: MONDO:0005184 {source="DOID:7717", source="NCIT:C37214"} ! pancreatic ductal adenocarcinoma
property_value: exactMatch DOID:7717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333081
property_value: exactMatch NCIT:C37214

[Term]
id: MONDO:0004342
name: obsolete osteoclast-like giant cell neoplasm of the pancreas
is_obsolete: true
replaced_by: MONDO:0006479

[Term]
id: MONDO:0004343
name: pancreatic acinar cell cystadenocarcinoma
def: "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." [NCIT:C5727]
synonym: "acinar cell cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5727]
synonym: "acinar cell cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:7729]
synonym: "acinar cell cystadenocarcinoma of pancreas" EXACT [NCIT:C5727]
synonym: "acinar cell cystadenocarcinoma of the pancreas" EXACT [NCIT:C5727]
synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [DOID:7729, NCIT:C5727]
xref: DOID:7729 {source="MONDO:equivalentTo"}
xref: ICDO:8551/3 {source="NCIT:C5727"}
xref: NCIT:C5727 {source="MONDO:equivalentTo", source="DOID:7729"}
xref: UMLS:C1266087 {source="MONDO:equivalentTo", source="DOID:7729", source="NCIT:C5727"}
is_a: MONDO:0002867 {source="DOID:7729", source="MONDO:Redundant", source="MONDOLEX:0004343", source="NCIT:C5727"} ! pancreatic cystadenocarcinoma
is_a: MONDO:0006346 {source="MONDO:Redundant", source="NCIT:C5727"} ! pancreatic acinar cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128703004
property_value: exactMatch DOID:7729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266087
property_value: exactMatch NCIT:C5727

[Term]
id: MONDO:0004344
name: childhood malignant hemangiopericytoma
def: "A malignant hemangiopericytoma occurring in childhood." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "malignant childhood hemangiopericytoma" EXACT [NCIT:C8090]
synonym: "malignant hemangiopericytoma" EXACT [NCIT:C8090]
synonym: "malignant pediatric hemangiopericytoma" EXACT [DOID:7731, NCIT:C8090]
xref: DOID:7731 {source="MONDO:equivalentTo"}
xref: NCIT:C8090 {source="DOID:7731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0279983 {source="DOID:7731", source="MONDO:equivalentTo", source="NCIT:C8090"}
is_a: MONDO:0009330 {source="MONDOLEX:0004344", source="NCIT:C8090"} ! hemangiopericytoma, malignant
property_value: exactMatch DOID:7731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279983
property_value: exactMatch NCIT:C8090

[Term]
id: MONDO:0004345
name: childhood malignant schwannoma
def: "A malignant peripheral nerve sheath tumor occurring in children." [NCIT:P378]
synonym: "childhood malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant neurilemmoma" EXACT [NCIT:C8094]
synonym: "childhood malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094]
synonym: "childhood malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094]
synonym: "childhood malignant schwannoma" EXACT [NCIT:C8094]
synonym: "childhood malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood MPNST" EXACT [NCIT:C8094]
synonym: "childhood neurofibrosarcoma" EXACT [NCIT:C8094]
synonym: "childhood neurogenic sarcoma" EXACT [NCIT:C8094]
synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094]
synonym: "pediatric malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant neurilemmoma" EXACT [NCIT:C8094]
synonym: "pediatric malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094]
synonym: "pediatric malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094]
synonym: "pediatric malignant schwannoma" EXACT [NCIT:C8094]
synonym: "pediatric malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric MPNST" EXACT [DOID:7732, NCIT:C8094]
xref: DOID:7732 {source="MONDO:equivalentTo"}
xref: NCIT:C8094 {source="DOID:7732", source="MONDO:kboom-pr-0.97/0.76/2.71", source="MONDO:equivalentTo"}
xref: UMLS:C0279987 {source="DOID:7732", source="MONDO:equivalentTo", source="NCIT:C8094"}
is_a: MONDO:0006517 {source="NCIT:C8094"} ! childhood malignant neoplasm
is_a: MONDO:0017827 {source="DOID:7732", source="MONDOLEX:0004345", source="NCIT:C8094"} ! malignant peripheral nerve sheath tumor
property_value: exactMatch DOID:7732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279987
property_value: exactMatch NCIT:C8094

[Term]
id: MONDO:0004346
name: signet ring cell intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." [NCIT:C41619]
synonym: "signet Ring cell intrahepatic cholangiocarcinoma" EXACT [NCIT:C41619]
xref: DOID:7733 {source="MONDO:equivalentTo"}
xref: NCIT:C41619 {source="DOID:7733", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519321 {source="DOID:7733", source="MONDO:equivalentTo", source="NCIT:C41619"}
is_a: MONDO:0002664 ! extrahepatic bile duct signet ring cell carcinoma
is_a: MONDO:0003210 {source="DOID:7733", source="MONDO:Redundant", source="MONDOLEX:0004346", source="NCIT:C41619"} ! intrahepatic cholangiocarcinoma
intersection_of: MONDO:0003210 ! intrahepatic cholangiocarcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
property_value: exactMatch DOID:7733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519321
property_value: exactMatch NCIT:C41619

[Term]
id: MONDO:0004348
name: retinal telangiectasia
comment: Consider obsoleting and ceding to HPO
xref: DOID:7736 {source="MONDO:equivalentTo"}
xref: HP:0007763 {source="MONDO:otherHierarchy"}
xref: ICD9:362.15 {source="MONDO:equivalentTo", source="DOID:7736", source="i2s"}
xref: SCTID:84884003 {source="MONDO:equivalentTo", source="DOID:7736", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0154835 {source="MONDO:equivalentTo", source="DOID:7736"}
is_a: MONDO:0002311 {source="DOID:7736", source="linkedlifedata"} ! retinal vascular disease
property_value: exactMatch DOID:7736
property_value: exactMatch http://identifiers.org/snomedct/84884003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154835

[Term]
id: MONDO:0004349
name: retina lymphoma
def: "A lymphoma that involves the retina." [MONDO:patterns/location]
synonym: "lymphoma of retina" EXACT [NCIT:C4365]
synonym: "lymphoma of the retina" EXACT [NCIT:C4365]
synonym: "primary retinal lymphoma" EXACT [NCIT:C4365]
synonym: "retina lymphoma" EXACT [MONDO:patterns/location]
synonym: "retinal lymphoma" EXACT [DOID:774, NCIT:C4365]
xref: DOID:774 {source="MONDO:equivalentTo"}
xref: ICD9:198.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4365 {source="MONDO:equivalentTo", source="DOID:774", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:232075002 {source="MONDO:equivalentTo", source="DOID:774", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339556 {source="MONDO:equivalentTo", source="NCIT:C4365", source="DOID:774"}
is_a: MONDO:0003072 {source="DOID:774", source="MONDO:Redundant", source="NCIT:C4365", source="linkedlifedata"} ! retinal cancer
is_a: MONDO:0004034 {source="DOID:774", source="MONDO:Redundant", source="NCIT:C4365/inferred"} ! eye lymphoma
property_value: exactMatch DOID:774
property_value: exactMatch http://identifiers.org/snomedct/232075002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339556
property_value: exactMatch NCIT:C4365

[Term]
id: MONDO:0004350
name: pediatric extraocular retinoblastoma
def: "Retinoblastoma during childhood that has spread beyond the eye." [NCIT:P378]
synonym: "childhood extraocular retinoblastoma" EXACT [DOID:7747, NCIT:C9048]
synonym: "childhood metastatic retinoblastoma" EXACT [NCIT:C9048]
synonym: "extraocular retinoblastoma" EXACT [NCIT:C9048]
synonym: "extraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric extraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9048]
xref: DOID:7747 {source="MONDO:equivalentTo"}
xref: NCIT:C9048 {source="MONDO:equivalentTo", source="DOID:7747", source="MONDO:kboom-pr-0.99/0.76/4.32"}
xref: UMLS:C1321870 {source="NCIT:C9048", source="MONDO:equivalentTo", source="DOID:7747"}
is_a: MONDO:0003078 {source="DOID:7747", source="MONDO:Redundant", source="MONDOLEX:0004350", source="NCIT:C9048"} ! extraocular retinoblastoma
is_a: MONDO:0006517 {source="NCIT:C9048", source="indirect"} ! childhood malignant neoplasm
property_value: exactMatch DOID:7747
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321870
property_value: exactMatch NCIT:C9048

[Term]
id: MONDO:0004351
name: intraocular lymphoma
alt_id: MONDO:0017206
def: "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." [NCIT:C9184]
subset: ordo_disease {source="Orphanet:279904"}
synonym: "intraocular lymphoma" EXACT [NCIT:C9184]
synonym: "PIOL" EXACT [Orphanet:279904]
synonym: "primary intraocular lymphoma" EXACT [DOID:775, NCIT:C9184]
synonym: "primary intraocular non-Hodgkin's lymphoma" EXACT [Orphanet:279904]
xref: DOID:775 {source="MONDO:equivalentTo"}
xref: ICD10:C85\,7 {source="Orphanet:279904"}
xref: ICD9:200.50 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D064090 {source="DOID:775", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9184 {source="DOID:775", source="MONDO:equivalentTo"}
xref: Orphanet:279904 {source="MONDO:equivalentTo"}
xref: SCTID:420788006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.63"}
is_a: MONDO:0004034 {source="DOID:775", source="NCIT:C9184"} ! eye lymphoma
is_a: MONDO:0017207 {source="Orphanet:279904"} ! primary organ-specific lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0281658
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0730306
property_value: exactMatch DOID:775
property_value: exactMatch http://identifiers.org/mesh/D064090
property_value: exactMatch http://identifiers.org/snomedct/420788006
property_value: exactMatch NCIT:C9184
property_value: exactMatch Orphanet:279904

[Term]
id: MONDO:0004352
name: adult brain ependymoma
def: "An ependymoma of the brain occurring in adults." [NCIT:C9372]
synonym: "adult brain ependymoma" EXACT [NCIT:C9372]
synonym: "brain ependymoma" EXACT [NCIT:C9372]
xref: DOID:7750 {source="MONDO:equivalentTo"}
xref: NCIT:C9372 {source="MONDO:equivalentTo", source="DOID:7750"}
xref: UMLS:C1332186 {source="MONDO:equivalentTo", source="NCIT:C9372", source="DOID:7750"}
is_a: MONDO:0004245 {source="DOID:7750", source="NCIT:C9372"} ! ependymal tumor of brain
property_value: exactMatch DOID:7750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332186
property_value: exactMatch NCIT:C9372

[Term]
id: MONDO:0004353
name: extrahepatic biliary papillomatosis
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." [NCIT:P378]
synonym: "extrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7124]
synonym: "extrahepatic bile duct papillomatosis" EXACT [NCIT:C7124]
synonym: "extrahepatic biliary papillomatosis" EXACT [NCIT:C7124]
xref: DOID:7752 {source="MONDO:equivalentTo"}
xref: NCIT:C7124 {source="DOID:7752", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333511 {source="DOID:7752", source="NCIT:C7124", source="MONDO:equivalentTo"}
is_a: MONDO:0003455 {source="DOID:7752", source="MONDOLEX:0004353", source="NCIT:C7124"} ! bile duct papillary neoplasm
property_value: exactMatch DOID:7752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333511
property_value: exactMatch NCIT:C7124

[Term]
id: MONDO:0004354
name: neonatal leukemia
def: "Leukemia that occurs during the neonatal period." [NCIT:P378]
synonym: "neonatal leukemia" EXACT [DOID:7756, NCIT:C3845]
xref: DOID:7756 {source="MONDO:equivalentTo"}
xref: NCIT:C3845 {source="DOID:7756", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0235813 {source="DOID:7756", source="MONDO:equivalentTo", source="NCIT:C3845"}
is_a: MONDO:0004355 {source="DOID:7756", source="MONDOLEX:0004354", source="NCIT:C3845/inferred"} ! childhood leukemia
property_value: exactMatch DOID:7756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235813
property_value: exactMatch NCIT:C3845

[Term]
id: MONDO:0004355
name: childhood leukemia
def: "An acute or chronic leukemia that occurs during childhood." [NCIT:C4989]
synonym: "childhood leukemia" EXACT [NCIT:C4989]
synonym: "childhood leukemia (disease)" EXACT []
synonym: "leukemia" EXACT [NCIT:C4989]
synonym: "leukemia (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric leukemia (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric leukemia (disease)" RELATED [MONDO:patterns/childhood]
xref: DOID:7757 {source="MONDO:equivalentTo"}
xref: NCIT:C4989 {source="DOID:7757", source="MONDO:equivalentTo"}
xref: UMLS:C1332977 {source="DOID:7757", source="MONDO:equivalentTo", source="NCIT:C4989"}
is_a: MONDO:0005059 {source="DOID:7757", source="MONDO:Redundant", source="NCIT:C4989"} ! leukemia (disease)
is_a: MONDO:0006517 {source="NCIT:C4989"} ! childhood malignant neoplasm
is_a: MONDO:0021138 ! bone marrow cancer
property_value: exactMatch DOID:7757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332977
property_value: exactMatch NCIT:C4989

[Term]
id: MONDO:0004356
name: childhood multilocular cystic kidney neoplasm
def: "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." [NCIT:P378]
synonym: "benign multilocular cystic renal tumor" RELATED [DOID:7762]
synonym: "childhood multilocular cystic kidney neoplasm" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic kidney tumor" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic renal neoplasm" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic renal tumor" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic kidney neoplasm" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic kidney tumor" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic renal neoplasm" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic renal tumor" EXACT [DOID:7762, NCIT:C6566]
xref: DOID:7762 {source="MONDO:equivalentTo"}
xref: NCIT:C6566 {source="MONDO:equivalentTo", source="DOID:7762", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332983 {source="MONDO:equivalentTo", source="NCIT:C6566", source="DOID:7762"}
is_a: MONDO:0002730 {source="MONDOLEX:0004356", source="NCIT:C6566"} ! childhood kidney neoplasm
property_value: exactMatch DOID:7762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332983
property_value: exactMatch NCIT:C6566

[Term]
id: MONDO:0004357
name: carcinoma of supraglottis
def: "A carcinoma of the larynx that arises from the supraglottic area." [NCIT:P378]
synonym: "cancer of supraglottis" EXACT [NCIT:C5973]
synonym: "cancer of the supraglottis" EXACT [NCIT:C5973]
synonym: "carcinoma of supraglottic part of larynx" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of supraglottis" EXACT [NCIT:C5973]
synonym: "carcinoma of the supraglottis" EXACT [NCIT:C5973]
synonym: "supraglottic cancer" EXACT [NCIT:C5973]
synonym: "supraglottic carcinoma" EXACT [DOID:7763, NCIT:C5973]
synonym: "supraglottic part of larynx carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic throat cancer" EXACT [NCIT:C5973]
synonym: "supraglottis carcinoma" EXACT [NCIT:C5973]
xref: DOID:7763 {source="MONDO:equivalentTo"}
xref: NCIT:C5973 {source="DOID:7763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.32"}
xref: SCTID:372105009 {source="DOID:7763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1299240 {source="DOID:7763", source="MONDO:equivalentTo", source="NCIT:C5973"}
is_a: MONDO:0001724 {source="DOID:7763", source="MONDO:Redundant", source="NCIT:C5973", source="linkedlifedata", source="linkedlifedata/inferred"} ! supraglottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="MONDOLEX:0004357", source="NCIT:C5973", source="linkedlifedata"} ! laryngeal carcinoma
property_value: exactMatch DOID:7763
property_value: exactMatch http://identifiers.org/snomedct/372105009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299240
property_value: exactMatch NCIT:C5973

[Term]
id: MONDO:0004358
name: subglottis carcinoma
def: "A carcinoma of the larynx that arises from the subglottic area." [NCIT:P378]
synonym: "cancer of subglottis" BROAD [NCIT:C5972]
synonym: "cancer of the subglottis" BROAD [NCIT:C5972]
synonym: "carcinoma of subglottis" EXACT [MONDO:patterns/carcinoma, NCIT:C5972]
synonym: "carcinoma of the subglottis" EXACT [NCIT:C5972]
synonym: "subglottic cancer" BROAD [NCIT:C5972]
synonym: "subglottic carcinoma" EXACT [DOID:7764, NCIT:C5972]
synonym: "subglottic throat cancer" BROAD [NCIT:C5972]
synonym: "subglottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C5972]
xref: DOID:7764 {source="MONDO:equivalentTo"}
xref: NCIT:C5972 {source="DOID:7764", source="MONDO:kboom-pr-0.89/0.76/0.23", source="MONDO:equivalentTo"}
xref: SCTID:372104008 {source="DOID:7764", source="MONDO:kboom-pr-0.97/0.92/0.79", source="MONDO:equivalentTo"}
xref: UMLS:C1299239 {source="DOID:7764", source="MONDO:equivalentTo", source="NCIT:C5972"}
is_a: MONDO:0001293 {source="DOID:7764", source="MONDO:Redundant", source="MONDOLEX:0004358", source="NCIT:C5972", source="linkedlifedata", source="linkedlifedata/inferred"} ! subglottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C5972", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal carcinoma
property_value: exactMatch DOID:7764
property_value: exactMatch http://identifiers.org/snomedct/372104008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299239
property_value: exactMatch NCIT:C5972

[Term]
id: MONDO:0004359
name: delusional disorder
def: "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." [NCIT:P378]
xref: COHD:432590 {source="MONDO:equivalentTo"}
xref: DOID:778 {source="MONDO:equivalentTo"}
xref: ICD10:F22 {source="DOID:778"}
xref: ICD10:F22.0 {source="MONDO:equivalentTo"}
xref: ICD9:297.1 {source="DOID:778", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C94379 {source="DOID:778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:48500005 {source="DOID:778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.33"}
is_a: MONDO:0005485 {source="DOID:778", source="MONDO:cjm"} ! psychotic disorder
property_value: closeMatch http://identifiers.org/snomedct/192330005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011251
property_value: exactMatch DOID:778
property_value: exactMatch http://identifiers.org/snomedct/48500005
property_value: exactMatch NCIT:C94379

[Term]
id: MONDO:0004360
name: breast extraskeletal osteosarcoma
def: "An osteosarcoma arising from the breast tissue." [NCIT:C5189]
synonym: "breast extraskeletal osteosarcoma" EXACT [NCIT:C5189]
synonym: "breast osteosarcoma" EXACT [NCIT:C5189]
synonym: "breast osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic breast sarcoma" EXACT [NCIT:C5189]
synonym: "osteogenic sarcoma of breast" EXACT [DOID:7787, NCIT:C5189]
synonym: "osteogenic sarcoma of the breast" EXACT [NCIT:C5189]
synonym: "osteosarcoma of breast" EXACT [NCIT:C5189]
synonym: "osteosarcoma of the breast" EXACT [NCIT:C5189]
xref: DOID:7787 {source="MONDO:equivalentTo"}
xref: NCIT:C5189 {source="DOID:7787", source="MONDO:equivalentTo"}
xref: UMLS:C1335149 {source="DOID:7787", source="NCIT:C5189", source="MONDO:equivalentTo"}
is_a: MONDO:0002490 {source="DOID:7787", source="MONDO:Redundant", source="NCIT:C5189"} ! breast sarcoma
is_a: MONDO:0002621 {source="MONDOLEX:0004360", source="NCIT:C5189"} ! extraosseous osteosarcoma
property_value: exactMatch DOID:7787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335149
property_value: exactMatch NCIT:C5189

[Term]
id: MONDO:0004361
name: adult spinal cord ependymoma
def: "An ependymoma of the spinal cord occurring in adults." [NCIT:C27399]
synonym: "adult spinal cord ependymoma" EXACT [NCIT:C27399]
synonym: "spinal cord ependymoma" EXACT [NCIT:C27399]
synonym: "spinal cord ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7788 {source="MONDO:equivalentTo"}
xref: NCIT:C27399 {source="DOID:7788", source="MONDO:equivalentTo"}
xref: UMLS:C1332215 {source="DOID:7788", source="NCIT:C27399", source="MONDO:equivalentTo"}
is_a: MONDO:0003473 {source="DOID:7788", source="MONDO:Redundant", source="NCIT:C27399"} ! spinal cord ependymoma
property_value: exactMatch DOID:7788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332215
property_value: exactMatch NCIT:C27399

[Term]
id: MONDO:0004362
name: obsolete placenta disease
is_obsolete: true
replaced_by: MONDO:0005917

[Term]
id: MONDO:0004363
name: adult spinal cord glioblastoma
def: "A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)" [NCIT:P378]
synonym: "adult spinal cord glioblastoma" EXACT [DOID:7806, NCIT:C27183]
synonym: "adult spinal cord glioblastoma multiforme" EXACT [DOID:7806]
synonym: "glioblastoma multiforme of spinal cord" EXACT [DOID:7806]
xref: DOID:7806 {source="MONDO:equivalentTo"}
xref: NCIT:C27183 {source="MONDO:equivalentTo", source="DOID:7806", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:276829003 {source="MONDO:equivalentTo", source="DOID:7806", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0559185 {source="MONDO:equivalentTo", source="DOID:7806", source="NCIT:C27183"}
is_a: MONDO:0002542 ! spinal cord glioma
is_a: MONDO:0020690 {source="NCIT:C27183"} ! adult glioblastoma
relationship: excluded_subClassOf MONDO:0002542 {source="DOID:7806"} ! spinal cord glioma
property_value: exactMatch DOID:7806
property_value: exactMatch http://identifiers.org/snomedct/276829003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559185
property_value: exactMatch NCIT:C27183

[Term]
id: MONDO:0004364
name: choroid necrotic melanoma
synonym: "choroid necrotic melanoma" EXACT [NCIT:C6865]
synonym: "necrotic choroid melanoma" EXACT [DOID:7807, NCIT:C6865]
synonym: "necrotic melanoma of choroid" EXACT [NCIT:C6865]
synonym: "necrotic melanoma of the choroid" EXACT [NCIT:C6865]
xref: DOID:7807 {source="MONDO:equivalentTo"}
xref: NCIT:C6865 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7807"}
xref: UMLS:C1333026 {source="MONDO:equivalentTo", source="NCIT:C6865", source="DOID:7807"}
is_a: MONDO:0003878 {source="DOID:7807", source="NCIT:C6865"} ! malignant choroid melanoma
is_a: MONDO:0004365 {source="DOID:7807", source="NCIT:C6865"} ! necrotic uveal melanoma
intersection_of: MONDO:0003878 {source="NCIT:C6865"} ! malignant choroid melanoma
intersection_of: MONDO:0004365 {source="NCIT:C6865"} ! necrotic uveal melanoma
property_value: exactMatch DOID:7807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333026
property_value: exactMatch NCIT:C6865

[Term]
id: MONDO:0004365
name: necrotic uveal melanoma
def: "A uveal melanoma characterized by the presence of tumor cell necrosis." [NCIT:C7990]
xref: DOID:7808 {source="MONDO:equivalentTo"}
xref: NCIT:C7990 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7808"}
xref: UMLS:C1334931 {source="MONDO:equivalentTo", source="DOID:7808"}
is_a: MONDO:0006486 {source="DOID:7808", source="NCIT:C7990"} ! uveal melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279695
property_value: exactMatch DOID:7808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334931
property_value: exactMatch NCIT:C7990

[Term]
id: MONDO:0004366
name: mixed astrocytoma-ependymoma-oligodendroglioma
def: "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." [NCIT:C8272]
synonym: "mixed astrocytoma-ependymoma-oligodendroglioma" EXACT [NCIT:C8272]
xref: DOID:7817 {source="MONDO:equivalentTo"}
xref: NCIT:C8272 {source="MONDO:equivalentTo", source="DOID:7817", source="exact-label-match"}
xref: UMLS:C0280792 {source="MONDO:equivalentTo", source="DOID:7817", source="NCIT:C8272"}
is_a: MONDO:0003268 {source="DOID:7817", source="NCIT:C8272"} ! mixed glioma
property_value: exactMatch DOID:7817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280792
property_value: exactMatch NCIT:C8272

[Term]
id: MONDO:0004367
name: petroclival meningioma
def: "A meningioma that affects the petroclival region." [NCIT:P378]
xref: DOID:7818 {source="MONDO:equivalentTo"}
xref: NCIT:C5278 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7818"}
xref: UMLS:C1335395 {source="MONDO:equivalentTo", source="NCIT:C5278", source="DOID:7818"}
is_a: MONDO:0002998 {source="DOID:7818", source="NCIT:C5278"} ! skull base meningioma
property_value: exactMatch DOID:7818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335395
property_value: exactMatch NCIT:C5278

[Term]
id: MONDO:0004368
name: sphenoorbital meningioma
def: "A meningioma that affects the sphenoorbital region." [NCIT:P378]
xref: DOID:7819 {source="MONDO:equivalentTo"}
xref: NCIT:C5285 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:7819"}
xref: UMLS:C1336040 {source="NCIT:C5285", source="MONDO:equivalentTo", source="DOID:7819"}
is_a: MONDO:0002998 {source="DOID:7819", source="NCIT:C5285"} ! skull base meningioma
property_value: exactMatch DOID:7819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336040
property_value: exactMatch NCIT:C5285

[Term]
id: MONDO:0004369
name: renal infectious disease
xref: DOID:782 {source="MONDO:equivalentTo"}
xref: ICD10:N15.9 {source="DOID:782"}
xref: ICD9:590 {source="DOID:782"}
xref: ICD9:590.9 {source="DOID:782"}
is_a: MONDO:0005240 {source="DOID:782"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/129128006
property_value: closeMatch http://identifiers.org/snomedct/155865002
property_value: closeMatch http://identifiers.org/snomedct/197785002
property_value: closeMatch http://identifiers.org/snomedct/266618004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021313
property_value: exactMatch DOID:782

[Term]
id: MONDO:0004370
name: sphenocavernous meningioma
def: "A meningioma that affects the sphenocavernous region." [NCIT:P378]
xref: DOID:7820 {source="MONDO:equivalentTo"}
xref: NCIT:C5313 {source="DOID:7820", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336036 {source="DOID:7820", source="MONDO:equivalentTo", source="NCIT:C5313"}
is_a: MONDO:0002998 {source="DOID:7820", source="NCIT:C5313"} ! skull base meningioma
property_value: exactMatch DOID:7820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336036
property_value: exactMatch NCIT:C5313

[Term]
id: MONDO:0004371
name: spinal multifocal clear cell meningioma
def: "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:C5287]
synonym: "multifocal clear cell meningioma of spine" EXACT [DOID:7824, NCIT:C5287]
synonym: "multifocal clear cell meningioma of the spine" RELATED [NCIT:C5287]
synonym: "spinal multifocal clear cell meningioma" EXACT [NCIT:C5287]
xref: DOID:7824 {source="MONDO:equivalentTo"}
xref: NCIT:C5287 {source="NCIT:C5287", source="MONDO:equivalentTo", source="DOID:7824"}
xref: UMLS:C1336051 {source="NCIT:C5287", source="MONDO:equivalentTo", source="DOID:7824"}
is_a: MONDO:0002918 {source="MONDOLEX:0004371", source="NCIT:C5287"} ! clear cell meningioma
property_value: exactMatch DOID:7824
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336051
property_value: exactMatch NCIT:C5287

[Term]
id: MONDO:0004372
name: chronic toxic polyneuropathy
synonym: "chronic toxic polyneuropathy" EXACT [NCIT:C35603]
xref: DOID:7825 {source="MONDO:equivalentTo"}
xref: NCIT:C35603 {source="DOID:7825", source="MONDO:equivalentTo"}
xref: UMLS:C1333048 {source="DOID:7825", source="MONDO:equivalentTo", source="NCIT:C35603"}
is_a: MONDO:0003335 {source="DOID:7825", source="NCIT:C35603"} ! chronic polyneuropathy
property_value: exactMatch DOID:7825
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333048
property_value: exactMatch NCIT:C35603

[Term]
id: MONDO:0004373
name: adult papillary meningioma
def: "A papillary meningioma occurring in adults." [NCIT:C8293]
synonym: "adult papillary meningioma" EXACT [NCIT:C8293]
synonym: "papillary meningioma" EXACT [NCIT:C8293]
synonym: "papillary meningioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7826 {source="MONDO:equivalentTo"}
xref: NCIT:C8293 {source="MONDO:equivalentTo", source="DOID:7826"}
xref: UMLS:C0281334 {source="MONDO:equivalentTo", source="DOID:7826", source="NCIT:C8293"}
is_a: MONDO:0003262 {source="DOID:7826", source="MONDOLEX:0004373"} ! rhabdoid meningioma
is_a: MONDO:0021088 {source="MONDO:Redundant", source="MONDOLEX:0004373", source="NCIT:C8293"} ! papillary meningioma
property_value: exactMatch DOID:7826
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281334
property_value: exactMatch NCIT:C8293

[Term]
id: MONDO:0004374
name: adult extraskeletal osteosarcoma
def: "An osteosarcoma arising from the soft tissue, and occurring in adults." [NCIT:C7925]
synonym: "adult extraosseous osteosarcoma" EXACT [NCIT:C7925]
synonym: "adult extraskeletal osteosarcoma" EXACT [NCIT:C7925]
synonym: "extraosseous osteosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "extraskeletal osteosarcoma" EXACT [NCIT:C7925]
xref: DOID:7827 {source="MONDO:equivalentTo"}
xref: NCIT:C7925 {source="MONDO:equivalentTo", source="DOID:7827"}
xref: UMLS:C0278985 {source="MONDO:equivalentTo", source="DOID:7827", source="NCIT:C7925"}
is_a: MONDO:0002129 {source="DOID:7827", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0002621 {source="MONDO:Redundant", source="MONDOLEX:0004374", source="NCIT:C7925"} ! extraosseous osteosarcoma
property_value: exactMatch DOID:7827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278985
property_value: exactMatch NCIT:C7925

[Term]
id: MONDO:0004375
name: end stage renal failure
def: "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." [NCIT:C9439]
synonym: "chronic kidney disease, stage 5" EXACT [NCIT:C9439]
synonym: "disease (ESRD), end stage renal" EXACT [NCIT:C9439]
synonym: "end stage kidney disease" EXACT [NCIT:C9439]
synonym: "end stage kidney failure" EXACT [NCIT:C9439]
synonym: "end stage renal disease" EXACT [CSP2005:1682-2922, DOID:783]
synonym: "end stage renal disease (ESRD)" EXACT [NCIT:C9439]
synonym: "ESRD" EXACT [NCIT:C9439]
synonym: "ESRD, end stage renal disease" EXACT [NCIT:C9439]
synonym: "renal disease (ESRD), end stage" EXACT [NCIT:C9439]
synonym: "renal disease, end stage" EXACT [NCIT:C9439]
xref: COHD:193782 {source="MONDO:equivalentTo"}
xref: DOID:783 {source="MONDO:equivalentTo"}
xref: ICD9:585.6 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9439 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:46177005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005300 {source="DOID:783", source="NCIT:C9439"} ! chronic kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2316810
property_value: exactMatch DOID:783
property_value: exactMatch http://identifiers.org/snomedct/46177005
property_value: exactMatch NCIT:C9439

[Term]
id: MONDO:0004376
name: infiltrating nipple syringomatous adenoma
def: "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." [NCIT:P378]
synonym: "infiltrating nipple syringomatous adenoma" EXACT [NCIT:C40363]
synonym: "nipple syringomatous adenoma" EXACT [NCIT:C40363]
xref: DOID:7839 {source="MONDO:equivalentTo"}
xref: NCIT:C40363 {source="MONDO:equivalentTo", source="DOID:7839", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1518329 {source="MONDO:equivalentTo", source="DOID:7839"}
is_a: MONDO:0002482 {source="DOID:7839", source="NCIT:C40363"} ! nipple neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3839745
property_value: exactMatch DOID:7839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518329
property_value: exactMatch NCIT:C40363

[Term]
id: MONDO:0004377
name: pancreatic non-functioning delta cell tumor
def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome." [NCIT:C28333]
synonym: "non-functional pancreatic Delta cell NET" EXACT [NCIT:C28333]
synonym: "non-functional pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28333]
synonym: "non-functioning pancreatic Delta cell neoplasm" EXACT [NCIT:C28333]
synonym: "non-functioning pancreatic Delta cell tumor" EXACT [NCIT:C28333]
synonym: "nonfunctional Pancreatic Delta cell Neuroendocrine tumor" EXACT [NCIT:C28333]
xref: DOID:7840 {source="MONDO:equivalentTo"}
xref: NCIT:C28333 {source="DOID:7840", source="MONDO:equivalentTo"}
xref: UMLS:C1335311 {source="DOID:7840", source="MEDGEN:kboom-pr98-c99", source="NCIT:C28333", source="MONDO:equivalentTo"}
is_a: MONDO:0002994 {source="DOID:7840", source="MONDO:Redundant", source="NCIT:C28333"} ! pancreatic delta cell neuroendocrine tumor
is_a: MONDO:0004334 {source="DOID:7840", source="MONDO:Redundant", source="NCIT:C28333"} ! non-functional pancreatic neuroendocrine tumor
intersection_of: MONDO:0002994 {source="NCIT:C28333"} ! pancreatic delta cell neuroendocrine tumor
intersection_of: MONDO:0004334 {source="NCIT:C28333"} ! non-functional pancreatic neuroendocrine tumor
property_value: exactMatch DOID:7840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335311
property_value: exactMatch NCIT:C28333

[Term]
id: MONDO:0004378
name: pediatric cerebral ependymoblastoma
def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." [NCIT:P378]
synonym: "childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6957]
synonym: "childhood cerebral ependymoblastoma" EXACT [NCIT:C6957]
xref: DOID:7841 {source="MONDO:equivalentTo"}
xref: NCIT:C6957 {source="DOID:7841", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.29"}
xref: UMLS:C1332962 {source="DOID:7841", source="MONDO:equivalentTo", source="NCIT:C6957"}
is_a: MONDO:0002731 ! cerebral hemisphere cancer
is_a: MONDO:0002798 ! childhood central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor
is_a: MONDO:0016715 {source="DOID:7841", source="NCIT:C6957/inferred"} ! ependymoblastoma
property_value: exactMatch DOID:7841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332962
property_value: exactMatch NCIT:C6957

[Term]
id: MONDO:0004379
name: female breast carcinoma
def: "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." [NCIT:C2918]
synonym: "breast carcinoma, female" EXACT [NCIT:C2918]
synonym: "carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918]
synonym: "carcinoma of the female breast" EXACT [NCIT:C2918]
synonym: "female breast cancer" EXACT [MONDO:0000398, NCIT:C2918]
synonym: "female breast carcinoma" EXACT [NCIT:C2918]
synonym: "mammary carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918]
synonym: "mammary carcinoma of the female breast" EXACT [NCIT:C2918]
xref: DOID:0050671 {source="MONDO:equivalentTo"}
xref: DOID:7843 {source="MONDO:equivalentTo"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:174.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2918 {source="DOID:7843", source="MONDO:equivalentTo"}
xref: SCTID:372064008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.59"}
xref: SCTID:447782002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.46"}
xref: UMLS:C0007104 {source="DOID:7843", source="MONDO:equivalentTo", source="NCIT:C2918"}
is_a: MONDO:0004989 {source="DOID:7843", source="MONDOLEX:0004379", source="NCIT:C2918", source="linkedlifedata"} ! breast carcinoma
property_value: exactMatch DOID:0050671
property_value: exactMatch DOID:7843
property_value: exactMatch http://identifiers.org/snomedct/372064008
property_value: exactMatch http://identifiers.org/snomedct/447782002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007104
property_value: exactMatch NCIT:C2918

[Term]
id: MONDO:0004380
name: dendritic cell sarcoma
def: "A sarcoma that involves the dendritic cell." [MONDO:patterns/location]
comment: Editor note: we place the NCIT class here even though it is NOS
synonym: "Dendritic cell sarcoma" EXACT [DOID:7849]
synonym: "dendritic cell sarcoma" EXACT [MONDO:patterns/location]
synonym: "Dendritic cell sarcoma, NOS" RELATED EXCLUDE [NCIT:C27260]
synonym: "Dendritic cell sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C27260]
synonym: "Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" EXACT [DOID:7849]
synonym: "Dendritic cell tumor, NOS" RELATED EXCLUDE [NCIT:C27260]
synonym: "Dendritic cell tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C27260]
synonym: "follicular dendritic cell sarcoma" RELATED [DOID:7849]
synonym: "sarcoma of dendritic cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:7849 {source="MONDO:equivalentTo"}
xref: NCIT:C27260 {source="MONDO:equivalentTo", source="DOID:7849"}
xref: ONCOTREE:DCS {source="MONDO:equivalentTo"}
xref: SCTID:446643000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0004805 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disease
is_a: MONDO:0005089 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! sarcoma
is_a: MONDO:0006247 {source="DOID:7849", source="NCIT:C27260"} ! histiocytic and dendritic cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128815007
property_value: closeMatch http://identifiers.org/snomedct/397355008
property_value: exactMatch DOID:7849
property_value: exactMatch http://identifiers.org/snomedct/446643000
property_value: exactMatch NCIT:C27260

[Term]
id: MONDO:0004381
name: pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia
def: "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures." [NCIT:C41249]
synonym: "pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249]
synonym: "pancreatic intraductal papillary-mucinous adenoma" EXACT [NCIT:C41249]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249]
xref: DOID:7851 {source="MONDO:equivalentTo"}
xref: ICDO:8453/0 {source="NCIT:C41249"}
xref: NCIT:C41249 {source="DOID:7851", source="MONDO:equivalentTo"}
xref: SCTID:473418001 {source="DOID:7851", source="MONDO:equivalentTo"}
xref: UMLS:C1518868 {source="DOID:7851", source="NCIT:C41249", source="MONDO:equivalentTo"}
is_a: MONDO:0004286 {source="DOID:7851", source="NCIT:C41249"} ! pancreatic intraductal papillary-mucinous neoplasm
property_value: exactMatch DOID:7851
property_value: exactMatch http://identifiers.org/snomedct/473418001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518868
property_value: exactMatch NCIT:C41249

[Term]
id: MONDO:0004382
name: laryngeal disease
def: "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." [NCIT:P378]
synonym: "disease of larynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of larynx" EXACT []
synonym: "disorder of larynx" EXACT [MONDO:patterns/location_top]
synonym: "disorder of larynx" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the larynx" EXACT []
synonym: "laryngeal disease" EXACT [NCIT:C26810]
synonym: "laryngeal disorder" EXACT [NCIT:C26810]
synonym: "larynx disease" EXACT [MONDO:patterns/location]
synonym: "larynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:786 {source="MONDO:equivalentTo"}
xref: ICD10:J38.7 {source="DOID:786", source="MONDO:superClassOf"}
xref: ICD10:S12.8 {source="DOID:786", source="MONDO:unrelated"}
xref: ICD9:478.70 {source="DOID:786"}
xref: MESH:D007818 {source="DOID:786", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26810 {source="DOID:786", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:60600009 {source="DOID:786", source="MONDO:equivalentTo"}
xref: UMLS:C0023051 {source="DOID:786", source="MONDO:equivalentTo", source="NCIT:C26810"}
is_a: MONDO:0004867 {source="DOID:786", source="linkedlifedata"} ! upper respiratory tract disease
property_value: closeMatch http://identifiers.org/snomedct/195863001
property_value: exactMatch DOID:786
property_value: exactMatch http://identifiers.org/mesh/D007818
property_value: exactMatch http://identifiers.org/snomedct/60600009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023051
property_value: exactMatch NCIT:C26810

[Term]
id: MONDO:0004383
name: adult central nervous system germinoma
def: "A central nervous system germinoma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult central nervous system germinoma" EXACT [NCIT:C5792]
synonym: "adult CNS germinoma" EXACT [NCIT:C5792]
synonym: "Central nervous system germinoma" EXACT [NCIT:C5792]
synonym: "central nervous system germinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "germinoma of adult central nervous system" EXACT [NCIT:C5792]
synonym: "germinoma of adult CNS" EXACT [NCIT:C5792]
synonym: "germinoma of the adult central nervous system" EXACT [DOID:7867, NCIT:C5792]
synonym: "germinoma of the adult CNS" EXACT [NCIT:C5792]
xref: DOID:7867 {source="MONDO:equivalentTo"}
xref: NCIT:C5792 {source="DOID:7867", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1370504 {source="NCIT:C5792", source="DOID:7867", source="MONDO:equivalentTo"}
is_a: MONDO:0002999 {source="DOID:7867", source="MONDO:Redundant", source="NCIT:C5792"} ! central nervous system germinoma
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5792"} ! adult central nervous system germ cell tumor
property_value: exactMatch DOID:7867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370504
property_value: exactMatch NCIT:C5792

[Term]
id: MONDO:0004384
name: maxillary sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:C6840]
synonym: "inverted papilloma of maxillary sinus" EXACT [NCIT:C6840]
synonym: "inverted papilloma of the maxillary sinus" EXACT [DOID:7868, NCIT:C6840]
synonym: "maxillary sinus inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6840]
xref: DOID:7868 {source="MONDO:equivalentTo"}
xref: NCIT:C6840 {source="MONDO:equivalentTo", source="DOID:7868"}
xref: UMLS:C1334645 {source="MONDO:equivalentTo", source="DOID:7868", source="NCIT:C6840"}
is_a: MONDO:0002537 {source="DOID:7868", source="MONDO:Redundant", source="MONDOLEX:0004384", source="NCIT:C6840/inferred"} ! inverted papilloma
is_a: MONDO:0004457 {source="NCIT:C6840"} ! maxillary sinus Schneiderian papilloma
property_value: exactMatch DOID:7868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334645
property_value: exactMatch NCIT:C6840

[Term]
id: MONDO:0004385
name: adult xanthogranuloma
def: "A xanthogranuloma that occurs in an adult." [MONDO:design_pattern]
synonym: "adult xanthogranuloma" EXACT [NCIT:C27514]
synonym: "xanthogranuloma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7875 {source="MONDO:equivalentTo"}
xref: NCIT:C27514 {source="DOID:7875", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C1332220 {source="DOID:7875", source="MONDO:equivalentTo", source="NCIT:C27514"}
is_a: MONDO:0024617 {source="MONDO:Redundant", source="NCIT:C27514"} ! xanthogranuloma
property_value: exactMatch DOID:7875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332220
property_value: exactMatch NCIT:C27514

[Term]
id: MONDO:0004386
name: uterine corpus atypical polypoid adenomyoma
def: "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." [NCIT:P378]
synonym: "atypical polypoid adenomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "body of uterus atypical polypoid adenomyoma" EXACT [MONDO:patterns/location]
xref: DOID:7878 {source="MONDO:equivalentTo"}
xref: NCIT:C40235 {source="DOID:7878", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1519844 {source="DOID:7878", source="MONDO:equivalentTo", source="NCIT:C40235"}
is_a: MONDO:0003236 {source="DOID:7878", source="MONDO:Redundant", source="MONDOLEX:0004386", source="NCIT:C40235"} ! atypical polypoid adenomyoma
is_a: MONDO:0003237 {source="DOID:7878", source="MONDO:Redundant", source="NCIT:C40235"} ! adenomyoma of uterine corpus
property_value: exactMatch DOID:7878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519844
property_value: exactMatch NCIT:C40235

[Term]
id: MONDO:0004387
name: luteoma of pregnancy
def: "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." [NCIT:C40445]
synonym: "leuteoma of pregnancy" EXACT [DOID:7880]
synonym: "luteoma" EXACT [DOID:7880]
xref: DOID:7880 {source="MONDO:equivalentTo"}
xref: MESH:D018311 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C40445 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20", source="DOID:7880"}
xref: UMLS:C0024167 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1517842 {source="MONDO:equivalentTo", source="DOID:7880", source="NCIT:C40445"}
is_a: MONDO:0005558 {source="DOID:7880", source="DOID:7880/inferred", source="MESH:D018311/inferred", source="NCIT:C40445", source="NCIT:C40445/inferred"} ! ovarian disease
is_a: MONDO:0024575 {source="NCIT:C40445"} ! pregnancy disorder
property_value: exactMatch DOID:7880
property_value: exactMatch http://identifiers.org/mesh/D018311
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517842
property_value: exactMatch NCIT:C40445

[Term]
id: MONDO:0004388
name: obsolete testicular spermatocytic seminoma
is_obsolete: true
replaced_by: MONDO:0020513

[Term]
id: MONDO:0004389
name: mite infestation
def: "Infestations with arthropods of the subclass acari, superorder Acariformes." [MESH:D008924]
xref: DOID:7894 {source="MONDO:equivalentTo"}
xref: ICD10:B88.0 {source="DOID:7894"}
xref: ICD10:B88.9 {source="DOID:7894"}
xref: ICD9:133 {source="DOID:7894"}
xref: ICD9:133.9 {source="DOID:7894"}
xref: MESH:D008924 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7894"}
xref: SCTID:240885009 {source="MONDO:kboom-pr-1.00/0.79/8.45", source="MONDO:equivalentTo", source="DOID:7894"}
xref: UMLS:C0026229 {source="MONDO:equivalentTo", source="DOID:7894"}
is_a: MONDO:0002875 {source="DOID:7894", source="MESH:D008924"} ! parasitic ectoparasitic infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154422001
property_value: closeMatch http://identifiers.org/snomedct/187214007
property_value: closeMatch http://identifiers.org/snomedct/187217000
property_value: closeMatch http://identifiers.org/snomedct/266224002
property_value: closeMatch http://identifiers.org/snomedct/78166003
property_value: exactMatch DOID:7894
property_value: exactMatch http://identifiers.org/mesh/D008924
property_value: exactMatch http://identifiers.org/snomedct/240885009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026229

[Term]
id: MONDO:0004390
name: ocular hypotension
def: "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." [MESH:D015814]
synonym: "hypotony of eye" EXACT [DOID:790, ICD9CM_2006:360.3]
xref: COHD:376107 {source="MONDO:equivalentTo"}
xref: DOID:790 {source="MONDO:equivalentTo"}
xref: ICD10:H44.4 {source="DOID:790"}
xref: ICD10:H44.40 {source="DOID:790"}
xref: ICD9:360.3 {source="DOID:790"}
xref: ICD9:360.30 {source="MONDO:equivalentTo", source="DOID:790", source="i2s"}
xref: MESH:D015814 {source="MONDO:equivalentTo", source="DOID:790", source="MONDO:ontobio"}
xref: SCTID:19721008 {source="MONDO:equivalentTo", source="DOID:790", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0028841 {source="MONDO:equivalentTo", source="DOID:790"}
is_a: MONDO:0005328 {source="DOID:790", source="MESH:D015814", source="linkedlifedata"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/193280007
property_value: closeMatch http://identifiers.org/snomedct/193283009
property_value: closeMatch http://identifiers.org/snomedct/23670006
property_value: exactMatch DOID:790
property_value: exactMatch http://identifiers.org/mesh/D015814
property_value: exactMatch http://identifiers.org/snomedct/19721008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028841

[Term]
id: MONDO:0004391
name: adult extraosseous chondrosarcoma
def: "A extraosseous chondrosarcoma that occurs in an adult." [MONDO:design_pattern]
synonym: "extraosseous chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7902 {source="MONDO:equivalentTo"}
is_a: MONDO:0003044 {source="DOID:7902", source="MONDO:Redundant", source="MONDOLEX:0004391"} ! extraosseous chondrosarcoma
property_value: exactMatch DOID:7902

[Term]
id: MONDO:0004392
name: intracranial extraskeletal myxoid chondrosarcoma
def: "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." [NCIT:C5462]
synonym: "intracranial chondrosarcoma" RELATED [DOID:7903]
synonym: "intracranial extraskeletal myxoid chondrosarcoma" EXACT [NCIT:C5462]
xref: DOID:7903 {source="MONDO:equivalentTo"}
xref: NCIT:C5462 {source="MONDO:equivalentTo", source="DOID:7903"}
xref: UMLS:C1334238 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5462", source="MONDO:equivalentTo", source="DOID:7903"}
is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C5462"} ! central nervous system sarcoma
is_a: MONDO:0012825 {source="MONDO:Redundant", source="MONDOLEX:0004392", source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma
intersection_of: MONDO:0002217 {source="NCIT:C5462"} ! central nervous system sarcoma
intersection_of: MONDO:0012825 {source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma
property_value: exactMatch DOID:7903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334238
property_value: exactMatch NCIT:C5462

[Term]
id: MONDO:0004393
name: mixed astrocytoma-ependymoma
def: "A tumor of mixed cell type with astrocytic components as well as ependymoma components." [NCIT:C8271]
synonym: "mixed astrocytoma-ependymoma" EXACT [NCIT:C8271]
xref: DOID:7907 {source="MONDO:equivalentTo"}
xref: NCIT:C8271 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7907"}
xref: UMLS:C0280791 {source="MONDO:equivalentTo", source="DOID:7907", source="NCIT:C8271"}
is_a: MONDO:0003268 {source="DOID:7907", source="NCIT:C8271"} ! mixed glioma
property_value: exactMatch DOID:7907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280791
property_value: exactMatch NCIT:C8271

[Term]
id: MONDO:0004394
name: maxillary sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
synonym: "epidermoid carcinoma of maxillary antrum" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of maxillary sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of maxillofacial sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillary antrum" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillary sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT [DOID:7910, NCIT:C6064]
synonym: "maxillary antrum epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary antrum squamous cell carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary sinus epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "maxillofacial sinus epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillofacial sinus squamous cell carcinoma" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillary antrum" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillary sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillofacial sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillary antrum" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillary sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillofacial sinus" EXACT [NCIT:C6064]
xref: DOID:7910 {source="MONDO:equivalentTo"}
xref: NCIT:C6064 {source="DOID:7910", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:707354003 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C1334647 {source="NCIT:C6064", source="DOID:7910", source="MONDO:equivalentTo"}
is_a: MONDO:0001748 {source="DOID:7910", source="MONDO:Redundant", source="NCIT:C6064", source="NCIT:C6064/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! maxillary sinus carcinoma
is_a: MONDO:0004958 ! oral cavity squamous cell carcinoma
is_a: MONDO:0044705 ! paranasal sinus squamous cell carcinoma
property_value: exactMatch DOID:7910
property_value: exactMatch http://identifiers.org/snomedct/707354003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334647
property_value: exactMatch NCIT:C6064

[Term]
id: MONDO:0004395
name: obsolete mixed oligodendroglioma-astrocytoma
is_obsolete: true
replaced_by: MONDO:0016702

[Term]
id: MONDO:0004396
name: cervical spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the cervical region of the spinal cord." [NCIT:P378]
synonym: "cervical intraspinal meningioma" EXACT [NCIT:C5296]
synonym: "meningioma of cervical spinal canal and spinal cord" EXACT [NCIT:C5296]
synonym: "meningioma of the cervical spinal canal and spinal cord" EXACT [DOID:7915, NCIT:C5296]
xref: DOID:7915 {source="MONDO:equivalentTo"}
xref: NCIT:C5296 {source="MONDO:equivalentTo", source="DOID:7915", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332916 {source="NCIT:C5296", source="MONDO:equivalentTo", source="DOID:7915"}
is_a: MONDO:0001279 {source="DOID:7915", source="MONDOLEX:0004396", source="NCIT:C5296"} ! intraspinal meningioma
property_value: exactMatch DOID:7915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332916
property_value: exactMatch NCIT:C5296

[Term]
id: MONDO:0004397
name: benign mediastinal psammomatous neurilemmoma
def: "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies." [NCIT:P378]
synonym: "benign mediastinal psammomatous schwannoma" EXACT [NCIT:C6636]
synonym: "benign psammomatous neurilemmoma of mediastinum" EXACT [NCIT:C6636]
synonym: "benign psammomatous neurilemmoma of the mediastinum" EXACT [NCIT:C6636]
synonym: "benign psammomatous schwannoma of mediastinum" EXACT [DOID:7921, NCIT:C6636]
synonym: "benign psammomatous schwannoma of the mediastinum" EXACT [NCIT:C6636]
xref: DOID:7921 {source="MONDO:equivalentTo"}
xref: NCIT:C6636 {source="DOID:7921", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332513 {source="DOID:7921", source="MONDO:equivalentTo", source="NCIT:C6636"}
is_a: MONDO:0004398 {source="DOID:7921", source="MONDOLEX:0004397", source="NCIT:C6636"} ! mediastinal schwannoma
property_value: exactMatch DOID:7921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332513
property_value: exactMatch NCIT:C6636

[Term]
id: MONDO:0004398
name: mediastinal schwannoma
def: "A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative." [NCIT:C6643]
synonym: "benign mediastinal neurilemmoma" EXACT [NCIT:C6643]
synonym: "benign mediastinal schwannoma" EXACT [NCIT:C6643]
synonym: "benign neurilemmoma of mediastinum" EXACT [NCIT:C6643]
synonym: "benign neurilemmoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "benign schwannoma of mediastinum" EXACT [DOID:7922, NCIT:C6625, NCIT:C6643]
synonym: "benign schwannoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "mediastinal neurilemmoma" EXACT [NCIT:C6643]
synonym: "mediastinal schwannoma" EXACT [NCIT:C6643]
synonym: "mediastinum schwannoma" EXACT [MONDO:patterns/location]
synonym: "neurilemmoma of mediastinum" EXACT [NCIT:C6643]
synonym: "neurilemmoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "schwannoma of mediastinum" EXACT [NCIT:C6643]
synonym: "schwannoma of the mediastinum" EXACT [NCIT:C6643]
xref: DOID:6175 {source="MONDO:equivalentTo"}
xref: DOID:7922 {source="MONDO:equivalentTo"}
xref: NCIT:C6643 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:6175"}
xref: UMLS:C1334679 {source="MONDO:equivalentTo", source="NCIT:C6643", source="DOID:6175"}
is_a: MONDO:0000638 ! benign glioma
is_a: MONDO:0003098 {source="DOID:6175", source="NCIT:C6643"} ! mediastinal neural neoplasm
is_a: MONDO:0004820 {source="DOID:6175", source="NCIT:C6643"} ! peripheral nerve schwannoma
is_a: MONDO:0021521 {source="MONDO:Entailed", source="NCIT:C6643"} ! benign neoplasm of mediastinum
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch DOID:6175
property_value: exactMatch DOID:7922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334679
property_value: exactMatch NCIT:C6625
property_value: exactMatch NCIT:C6643

[Term]
id: MONDO:0004399
name: obsolete epithelial malignant thymoma
is_obsolete: true
replaced_by: MONDO:0006458

[Term]
id: MONDO:0004400
name: malignant type A thymoma
def: "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." [NCIT:C7999]
synonym: "malignant type A thymoma" EXACT [NCIT:C7999]
synonym: "thymoma, medullary, malignant" EXACT [DOID:7927]
xref: DOID:7927 {source="MONDO:equivalentTo"}
xref: ICDO:8581/3 {source="NCIT:C7999"}
xref: NCIT:C7999 {source="MONDO:equivalentTo", source="DOID:7927", source="exact-label-match"}
xref: UMLS:C0279707 {source="MONDO:equivalentTo", source="DOID:7927", source="NCIT:C7999"}
is_a: MONDO:0002588 {source="DOID:7927", source="MONDOLEX:0004400", source="NCIT:C7999"} ! thymoma type A
property_value: closeMatch http://identifiers.org/snomedct/128708008
property_value: exactMatch DOID:7927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279707
property_value: exactMatch NCIT:C7999

[Term]
id: MONDO:0004401
name: testis refractory cancer
def: "Malignant testicular germ cell tumor that is resistant to treatment." [NCIT:P378]
synonym: "refractory cancer of testis" EXACT [NCIT:C9077]
synonym: "refractory cancer of the testis" EXACT [NCIT:C9077]
synonym: "refractory malignant testicular germ cell tumor" EXACT [NCIT:C9077]
synonym: "refractory testicular cancer" EXACT [NCIT:C9077]
synonym: "refractory testicular carcinoma" EXACT [DOID:7928, NCIT:C9077]
xref: DOID:7928 {source="MONDO:equivalentTo"}
xref: NCIT:C9077 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo", source="DOID:7928"}
xref: UMLS:C1377904 {source="MONDO:equivalentTo", source="DOID:7928", source="NCIT:C9077"}
is_a: MONDO:0003510 {source="DOID:7928", source="MONDOLEX:0004401", source="NCIT:C9077"} ! malignant testicular germ cell tumor
is_a: MONDO:0036501 ! refractory malignant neoplasm
property_value: exactMatch DOID:7928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1377904
property_value: exactMatch NCIT:C9077

[Term]
id: MONDO:0004402
name: testicular yolk sac tumor, glandular-alveolar pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." [NCIT:C39926]
synonym: "glandular-alveolar pattern testicular yolk sac tumor" RELATED [DOID:7930]
synonym: "testicular yolk sac tumor, glandular-alveolar pattern" EXACT [NCIT:C39926]
xref: DOID:7930 {source="MONDO:equivalentTo"}
xref: NCIT:C39926 {source="DOID:7930", source="MONDO:equivalentTo", source="NCIT:C39926"}
xref: UMLS:C1515305 {source="DOID:7930", source="MONDO:equivalentTo", source="NCIT:C39926"}
is_a: MONDO:0003402 {source="DOID:7930", source="MONDOLEX:0004402", source="NCIT:C39926"} ! testicular yolk sac tumor
property_value: exactMatch DOID:7930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515305
property_value: exactMatch NCIT:C39926

[Term]
id: MONDO:0004403
name: childhood precursor T-lymphoblastic lymphoma/leukemia
def: "A T lymphoblastic leukemia/lymphoma that occurs during childhood." [NCIT:P378]
synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C5640]
synonym: "childhood T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C5640]
synonym: "pediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric precursor T-lymphoblastic lymphoma/leukemia" RELATED [MONDO:patterns/childhood]
synonym: "precursor T-lymphoblastic lymphoma/leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7933 {source="MONDO:equivalentTo"}
xref: NCIT:C5640 {source="DOID:7933", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1332997 {source="DOID:7933", source="NCIT:C5640", source="MONDO:equivalentTo"}
is_a: MONDO:0003537 {source="DOID:7933", source="MONDO:Redundant", source="NCIT:C5640"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0006517 {source="NCIT:C5640", source="indirect"} ! childhood malignant neoplasm
property_value: exactMatch DOID:7933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332997
property_value: exactMatch NCIT:C5640

[Term]
id: MONDO:0004404
name: refractory precursor T-lymphoblastic lymphoma/leukemia
def: "T-lymphoblastic leukemia/lymphoma resistant to treatment" [NCIT:P378]
synonym: "precursor T lymphoblastic lymphoma/leukemia refractory" EXACT [NCIT:C8696]
synonym: "refractory precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8696]
synonym: "refractory T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8696]
xref: DOID:7936 {source="MONDO:equivalentTo"}
xref: NCIT:C8696 {source="MONDO:equivalentTo", source="DOID:7936", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0854859 {source="NCIT:C8696", source="MONDO:equivalentTo", source="DOID:7936"}
is_a: MONDO:0003537 {source="DOID:7936", source="NCIT:C8696"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004111 {source="DOID:7936", source="NCIT:C8696"} ! refractory hematologic cancer
property_value: exactMatch DOID:7936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854859
property_value: exactMatch NCIT:C8696

[Term]
id: MONDO:0004405
name: Barrett adenocarcinoma
def: "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" [NCIT:C7027]
synonym: "adenocarcinoma arising in Barrett's mucosa" EXACT [DOID:7941, NCIT:C7027]
synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, NCIT:C7027]
synonym: "Barrett's adenocarcinoma" EXACT [NCIT:C7027]
xref: DOID:7941 {source="MONDO:equivalentTo"}
xref: EFO:1001939 {source="MONDO:equivalentTo"}
xref: NCIT:C7027 {source="DOID:7941", source="MONDO:equivalentTo"}
xref: SCTID:721617001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.82"}
xref: UMLS:C1332460 {source="DOID:7941", source="MONDO:equivalentTo", source="NCIT:C7027"}
is_a: MONDO:0005028 {source="DOID:7941", source="EFO:1001939", source="NCIT:C7027", source="NCIT:C7027/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! esophageal adenocarcinoma
property_value: exactMatch DOID:7941
property_value: exactMatch http://identifiers.org/snomedct/721617001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332460
property_value: exactMatch NCIT:C7027

[Term]
id: MONDO:0004406
name: adult central nervous system mixed germ cell tumor
def: "A mixed germ cell tumor of central nervous system that occurs in an adult." [MONDO:design_pattern]
synonym: "adult central nervous system mixed germ cell tumor" EXACT [NCIT:C27402]
synonym: "adult mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern]
synonym: "Central nervous system Mixed germ cell tumor" EXACT [NCIT:C27402]
synonym: "mixed germ cell tumor of central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7945 {source="MONDO:equivalentTo"}
xref: NCIT:C27402 {source="MONDO:equivalentTo", source="DOID:7945", source="exact-label-match"}
xref: UMLS:C1332195 {source="MONDO:equivalentTo", source="NCIT:C27402", source="DOID:7945"}
is_a: MONDO:0003405 {source="DOID:7945", source="MONDO:Redundant", source="NCIT:C27402"} ! adult central nervous system germ cell tumor
is_a: MONDO:0016742 {source="MONDO:Redundant", source="MONDOLEX:0004406", source="NCIT:C27402"} ! mixed germ cell tumor of central nervous system
property_value: exactMatch DOID:7945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332195
property_value: exactMatch NCIT:C27402

[Term]
id: MONDO:0004407
name: stroma-dominant and stroma-poor composite ganglioneuroblastoma
def: "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume." [NCIT:P378]
synonym: "composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor" EXACT [NCIT:C42060]
xref: DOID:7949 {source="MONDO:equivalentTo"}
xref: NCIT:C42060 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58", source="DOID:7949"}
xref: UMLS:C1516761 {source="NCIT:C42060", source="MONDO:equivalentTo", source="DOID:7949"}
is_a: MONDO:0003325 {source="DOID:7949", source="NCIT:C42060"} ! nodular ganglioneuroblastoma
property_value: exactMatch DOID:7949
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516761
property_value: exactMatch NCIT:C42060

[Term]
id: MONDO:0004408
name: schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
def: "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume." [NCIT:P378]
synonym: "composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor" EXACT [NCIT:C42059]
xref: DOID:7951 {source="MONDO:equivalentTo"}
xref: NCIT:C42059 {source="DOID:7951", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C1516760 {source="DOID:7951", source="MONDO:equivalentTo", source="NCIT:C42059"}
is_a: MONDO:0003325 {source="DOID:7951", source="NCIT:C42059"} ! nodular ganglioneuroblastoma
property_value: exactMatch DOID:7951
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516760
property_value: exactMatch NCIT:C42059

[Term]
id: MONDO:0004409
name: nipple duct carcinoma
def: "A carcinoma that develops in the ducts of the nipple." [NCIT:C27234]
synonym: "nipple duct carcinoma" EXACT [NCIT:C27234]
xref: DOID:7953 {source="MONDO:equivalentTo"}
xref: NCIT:C27234 {source="DOID:7953", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334967 {source="DOID:7953", source="NCIT:C27234", source="MONDO:equivalentTo"}
is_a: MONDO:0003950 {source="DOID:7953", source="NCIT:C27234"} ! nipple carcinoma
property_value: exactMatch DOID:7953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334967
property_value: exactMatch NCIT:C27234

[Term]
id: MONDO:0004410
name: sarcomatoid penile squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells." [NCIT:P378]
synonym: "sarcomatoid carcinoma of the penis" EXACT [NCIT:C6984]
synonym: "sarcomatoid penile carcinoma" EXACT [NCIT:C6984]
synonym: "sarcomatoid penile squamous cell carcinoma" EXACT [NCIT:C6984]
synonym: "sarcomatous carcinoma of the penis" EXACT [DOID:7958, NCIT:C6984]
synonym: "spindle cell carcinoma of the penis" EXACT [NCIT:C6984]
synonym: "squamous cell carcinoma of penis, sarcomatoid type" EXACT [NCIT:C6984]
synonym: "squamous cell carcinoma of the penis, sarcomatoid type" EXACT [NCIT:C6984]
xref: DOID:7958 {source="MONDO:equivalentTo"}
xref: NCIT:C6984 {source="MONDO:equivalentTo", source="DOID:7958", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335923 {source="MONDO:equivalentTo", source="NCIT:C6984", source="DOID:7958"}
is_a: MONDO:0018352 {source="DOID:7958", source="MONDO:Redundant", source="MONDOLEX:0004410", source="NCIT:C6984"} ! squamous cell carcinoma of penis
is_a: MONDO:0021663 {source="MONDO:Redundant", source="NCIT:C6984"} ! sarcomatoid squamous cell carcinoma
property_value: exactMatch DOID:7958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335923
property_value: exactMatch NCIT:C6984

[Term]
id: MONDO:0004411
name: duodenal gastrin-producing neuroendocrine tumor
def: "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." [NCIT:C5731]
synonym: "duodenal G-cell gastrin producing tumor" EXACT [DOID:7959, NCIT:C5731]
synonym: "duodenal gastrin-producing NET" EXACT [NCIT:C5731]
synonym: "duodenal gastrin-producing neuroendocrine tumor" EXACT [NCIT:C5731]
synonym: "duodenal gastrinoma" EXACT [NCIT:C5731]
synonym: "duodenum gastrin-producing neuroendocrine tumor" EXACT [MONDO:patterns/location]
synonym: "gastrin producing tumor of duodenum" EXACT [NCIT:C5731]
synonym: "gastrin producing tumor of the duodenum" EXACT [NCIT:C5731]
synonym: "gastrin-producing neuroendocrine tumor of duodenum" EXACT [MONDO:design_pattern]
synonym: "gastrinoma of duodenum" EXACT [DOID:7959, NCIT:C5731]
synonym: "gastrinoma of the duodenum" EXACT [NCIT:C5731]
synonym: "malignant duodenal gastrinoma" EXACT [DOID:7959]
xref: DOID:7959 {source="MONDO:equivalentTo"}
xref: EFO:1000224 {source="MONDO:equivalentTo"}
xref: NCIT:C5731 {source="MONDO:equivalentTo", source="DOID:7959", source="MONDO:kboom-pr-0.96/0.92/0.19"}
xref: UMLS:C1333321 {source="MONDO:equivalentTo", source="DOID:7959", source="NCIT:C5731"}
is_a: MONDO:0003523 {source="DOID:7959", source="MONDO:Redundant", source="NCIT:C5731/inferred"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0015063 {source="MONDO:Redundant", source="NCIT:C5731"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0000920 {source="DOID:7959"} ! duodenum cancer
property_value: exactMatch DOID:7959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333321
property_value: exactMatch NCIT:C5731

[Term]
id: MONDO:0004412
name: malignant spiradenoma
def: "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs." [NCIT:P378]
synonym: "malignant eccrine spiradenoma" EXACT [DOID:7960, NCIT:C5117]
synonym: "malignant eccrine spiradenoma (morphologic abnormality)" EXACT [DOID:7960]
synonym: "malignant spiradenoma" EXACT [NCIT:C5117]
synonym: "Spiradenocarcinoma" EXACT [NCIT:C5117]
synonym: "spiradenoma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:7960 {source="MONDO:equivalentTo"}
xref: GARD:0010466 {source="MONDO:equivalentTo"}
xref: ICDO:8403/3 {source="NCIT:C5117"}
xref: NCIT:C5117 {source="MONDO:equivalentTo", source="DOID:7960", source="MONDO:kboom-pr-1.00/0.91/29.23"}
xref: SCTID:403942003 {source="MONDO:kboom-pr-1.00/0.92/7.06", source="MONDO:equivalentTo", source="DOID:7960"}
xref: UMLS:C1266063 {source="MONDO:equivalentTo", source="NCIT:C5117", source="DOID:7960"}
is_a: MONDO:0024240 ! eccrine carcinoma
is_a: MONDO:0024882 ! secondary neoplasm
relationship: disease_arises_from_feature MONDO:0003448 ! benign spiradenoma
property_value: closeMatch http://identifiers.org/snomedct/128895006
property_value: exactMatch DOID:7960
property_value: exactMatch http://identifiers.org/snomedct/403942003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266063
property_value: exactMatch NCIT:C5117

[Term]
id: MONDO:0004413
name: cervical non-keratinizing squamous cell carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent." [NCIT:P378]
xref: DOID:7961 {source="MONDO:equivalentTo"}
xref: NCIT:C40188 {source="DOID:7961", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1518366 {source="DOID:7961", source="MONDO:equivalentTo", source="NCIT:C40188"}
is_a: MONDO:0006143 {source="DOID:7961", source="NCIT:C40188"} ! cervical squamous cell carcinoma
property_value: exactMatch DOID:7961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518366
property_value: exactMatch NCIT:C40188

[Term]
id: MONDO:0004414
name: tamoxifen-related endometrial lesion
def: "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma." [NCIT:P378]
synonym: "tamoxifen-related endometrial disorder" EXACT [NCIT:C40159]
xref: DOID:7962 {source="MONDO:equivalentTo"}
xref: NCIT:C40159 {source="DOID:7962", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1515212 {source="DOID:7962", source="MONDO:equivalentTo", source="NCIT:C40159"}
is_a: MONDO:0000931 {source="DOID:7962", source="NCIT:C40159"} ! endometrial disease
property_value: exactMatch DOID:7962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515212
property_value: exactMatch NCIT:C40159

[Term]
id: MONDO:0004415
name: lipid-cell variant infiltrating bladder urothelial carcinoma
synonym: "infiltrating bladder urothelial carcinoma, Lipid-cell variant" EXACT [NCIT:C39828]
xref: DOID:7967 {source="MONDO:equivalentTo"}
xref: NCIT:C39828 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo", source="DOID:7967"}
xref: UMLS:C1512738 {source="MONDO:equivalentTo", source="DOID:7967", source="NCIT:C39828"}
is_a: MONDO:0003890 {source="DOID:7967", source="MONDOLEX:0004415", source="NCIT:C39828"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512738
property_value: exactMatch NCIT:C39828

[Term]
id: MONDO:0004416
name: plasmacytoid variant infiltrating bladder urothelial carcinoma
synonym: "infiltrating bladder urothelial carcinoma, plasmacytoid variant" EXACT [NCIT:C39823]
synonym: "plasmacytoid/signet ring cell bladder carcinoma" RELATED [ONCOTREE:SRCBC]
xref: DOID:7968 {source="MONDO:equivalentTo"}
xref: NCIT:C39823 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="DOID:7968", source="MONDO:equivalentTo"}
xref: ONCOTREE:SRCBC {source="MONDO:equivalentTo"}
xref: UMLS:C1512742 {source="DOID:7968", source="MONDO:equivalentTo", source="NCIT:C39823"}
is_a: MONDO:0003890 {source="DOID:7968", source="MONDOLEX:0004416", source="NCIT:C39823"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512742
property_value: exactMatch NCIT:C39823

[Term]
id: MONDO:0004417
name: nested variant infiltrating bladder urothelial carcinoma
synonym: "infiltrating bladder urothelial carcinoma, nested variant" EXACT [NCIT:C39819]
xref: DOID:7969 {source="MONDO:equivalentTo"}
xref: NCIT:C39819 {source="MONDO:equivalentTo", source="DOID:7969", source="exact-label-match"}
xref: UMLS:C1512741 {source="NCIT:C39819", source="MONDO:equivalentTo", source="DOID:7969"}
is_a: MONDO:0003890 {source="DOID:7969", source="MONDOLEX:0004417", source="NCIT:C39819"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512741
property_value: exactMatch NCIT:C39819

[Term]
id: MONDO:0004418
name: microcystic variant infiltrating bladder urothelial carcinoma
synonym: "infiltrating bladder urothelial carcinoma, microcystic variant" EXACT [NCIT:C39820]
xref: DOID:7971 {source="MONDO:equivalentTo"}
xref: NCIT:C39820 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7971"}
xref: UMLS:C1512740 {source="MONDO:equivalentTo", source="NCIT:C39820", source="DOID:7971"}
is_a: MONDO:0003890 {source="DOID:7971", source="MONDOLEX:0004418", source="NCIT:C39820"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7971
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512740
property_value: exactMatch NCIT:C39820

[Term]
id: MONDO:0004419
name: lymphoma-like variant infiltrating bladder urothelial carcinoma
synonym: "infiltrating bladder urothelial carcinoma, lymphoma-like variant" EXACT [NCIT:C39822]
xref: DOID:7972 {source="MONDO:equivalentTo"}
xref: NCIT:C39822 {source="DOID:7972", source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C1512739 {source="DOID:7972", source="MONDO:equivalentTo", source="NCIT:C39822"}
is_a: MONDO:0003890 {source="DOID:7972", source="MONDOLEX:0004419", source="NCIT:C39822"} ! infiltrating bladder urothelial carcinoma
property_value: exactMatch DOID:7972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512739
property_value: exactMatch NCIT:C39822

[Term]
id: MONDO:0004420
name: breast malignant eccrine spiradenoma
def: "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast." [NCIT:P378]
synonym: "breast malignant spiradenoma" EXACT [MONDO:patterns/location]
synonym: "malignant breast eccrine spiradenoma" EXACT [NCIT:C5180]
synonym: "malignant eccrine spiradenoma of breast" EXACT [NCIT:C5180]
synonym: "malignant eccrine spiradenoma of the breast" EXACT [DOID:7983, NCIT:C5180]
synonym: "malignant spiradenoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:7983 {source="MONDO:equivalentTo"}
xref: NCIT:C5180 {source="DOID:7983", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334565 {source="DOID:7983", source="MONDO:equivalentTo", source="NCIT:C5180"}
is_a: MONDO:0004412 {source="DOID:7983", source="MONDO:Redundant", source="MONDOLEX:0004420", source="NCIT:C5180"} ! malignant spiradenoma
is_a: MONDO:0004988 ! breast adenocarcinoma
property_value: exactMatch DOID:7983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334565
property_value: exactMatch NCIT:C5180

[Term]
id: MONDO:0004421
name: sclerosing breast papilloma
def: "A breast papilloma characterized by the presence of predominant sclerosing architectural features." [NCIT:C27944]
synonym: "Complex sclerosing papillary lesion" EXACT [NCIT:C27944]
synonym: "Complex sclerosing papillary lesion of the breast" EXACT [NCIT:C27944]
synonym: "sclerosing breast papilloma" EXACT [NCIT:C27944]
xref: DOID:7984 {source="MONDO:equivalentTo"}
xref: NCIT:C27944 {source="DOID:7984", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335932 {source="DOID:7984", source="MONDO:equivalentTo", source="NCIT:C27944"}
is_a: MONDO:0021097 {source="DOID:7984", source="MONDOLEX:0004421", source="NCIT:C27944"} ! intraductal breast papilloma
property_value: exactMatch DOID:7984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335932
property_value: exactMatch NCIT:C27944

[Term]
id: MONDO:0004422
name: cerebral falx meningioma
def: "A meningioma that affects the falx cerebri." [NCIT:P378]
synonym: "Falcine meningioma" EXACT [DOID:7986, NCIT:C5267]
synonym: "falx cerebri meningioma" EXACT [NCIT:C5267]
synonym: "falx cerebri meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of falx cerebri" EXACT []
synonym: "meningioma of cerebral falx" EXACT [NCIT:C5267]
synonym: "meningioma of falx cerebri" EXACT [NCIT:C5267]
synonym: "meningioma of falx of cerebrum" EXACT [NCIT:C5267]
synonym: "meningioma of the cerebral falx" EXACT [NCIT:C5267]
synonym: "meningioma of the falx cerebri" EXACT [NCIT:C5267]
synonym: "meningioma of the falx of the cerebrum" EXACT [NCIT:C5267]
xref: DOID:7986 {source="MONDO:equivalentTo"}
xref: NCIT:C5267 {source="DOID:7986", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1333597 {source="DOID:7986", source="MONDO:equivalentTo", source="NCIT:C5267"}
is_a: MONDO:0002997 {source="DOID:7986", source="NCIT:C5267"} ! anterior cranial fossa meningioma
property_value: exactMatch DOID:7986
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333597
property_value: exactMatch NCIT:C5267

[Term]
id: MONDO:0004423
name: central nervous system extraskeletal osteosarcoma
def: "An osteosarcoma arising from the brain or spinal cord." [NCIT:C7002, NCIT:P378]
synonym: "central nervous system extraskeletal osteosarcoma" EXACT [NCIT:C7002]
synonym: "central nervous system osteosarcoma" RELATED [DOID:7994]
synonym: "central nervous system osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteosarcoma of central nervous system" EXACT [NCIT:C7002]
synonym: "osteosarcoma of the central nervous system" EXACT [NCIT:C7002]
xref: DOID:7994 {source="MONDO:equivalentTo"}
xref: NCIT:C7002 {source="DOID:7994", source="MONDO:equivalentTo"}
xref: UMLS:C1335150 {source="DOID:7994", source="MEDGEN:kboom-pr98-c99", source="NCIT:C7002", source="MONDO:equivalentTo"}
is_a: MONDO:0002217 {source="DOID:7994", source="MONDO:Redundant", source="NCIT:C7002"} ! central nervous system sarcoma
is_a: MONDO:0002621 {source="MONDOLEX:0004423", source="NCIT:C7002"} ! extraosseous osteosarcoma
is_a: MONDO:0037740 ! malignant central nervous system mesenchymal, non-meningothelial neoplasm
property_value: exactMatch DOID:7994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335150
property_value: exactMatch NCIT:C7002

[Term]
id: MONDO:0004424
name: familial glomangioma
def: "A familial glomus tumor." [NCIT:P378]
synonym: "familial glomangioma" EXACT [NCIT:C5350]
synonym: "hereditary glomangioma" EXACT [MONDO:patterns/hereditary, NCIT:C5350]
xref: DOID:7996 {source="MONDO:equivalentTo"}
xref: NCIT:C5350 {source="DOID:7996", source="MONDO:kboom-pr-1.00/0.84/14.21", source="MONDO:equivalentTo"}
xref: UMLS:C1333987 {source="NCIT:C5350", source="DOID:7996", source="MONDO:equivalentTo"}
is_a: MONDO:0002299 {source="DOID:7996", source="MONDO:Redundant", source="NCIT:C5350"} ! glomangioma
is_a: MONDO:0017127 ! inherited soft tissue tumor
intersection_of: MONDO:0002299 ! glomangioma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:7996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333987
property_value: exactMatch NCIT:C5350

[Term]
id: MONDO:0004425
name: hyperthyroidism
def: "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." [NCIT:P378]
synonym: "overactive thyroid" EXACT [DOID:7998, NCIT:C3123]
xref: DOID:7998 {source="MONDO:equivalentTo"}
xref: EFO:0009189 {source="MONDO:equivalentTo"}
xref: ICD10:E05.9 {source="DOID:7998"}
xref: ICD9:242.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006980 {source="DOID:7998", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3123 {source="DOID:7998", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:34486009 {source="DOID:7998", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0003240 {source="DOID:7998", source="EFO:0009189", source="MESH:D006980", source="NCIT:C3123/inferred", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch http://identifiers.org/snomedct/154655004
property_value: closeMatch http://identifiers.org/snomedct/190239004
property_value: closeMatch http://identifiers.org/snomedct/267464006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020550
property_value: exactMatch DOID:7998
property_value: exactMatch http://identifiers.org/mesh/D006980
property_value: exactMatch http://identifiers.org/snomedct/34486009
property_value: exactMatch NCIT:C3123

[Term]
id: MONDO:0004426
name: frontal convexity meningioma
def: "A meningioma that affects the frontal sulcus." [NCIT:P378]
xref: DOID:8000 {source="MONDO:equivalentTo"}
xref: NCIT:C5292 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8000"}
xref: UMLS:C1333643 {source="MONDO:equivalentTo", source="DOID:8000", source="NCIT:C5292"}
is_a: MONDO:0003774 {source="DOID:8000", source="NCIT:C5292"} ! cerebral convexity meningioma
property_value: exactMatch DOID:8000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333643
property_value: exactMatch NCIT:C5292

[Term]
id: MONDO:0004427
name: supraglottis neoplasm
def: "A benign or malignant neoplasm that affects the supraglottic area of the larynx." [NCIT:C6793]
synonym: "neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of supraglottis" EXACT [NCIT:C6793]
synonym: "neoplasm of the supraglottis" EXACT [NCIT:C6793]
synonym: "supraglottic neoplasm" EXACT [NCIT:C6793]
synonym: "supraglottic part of larynx neoplasm" EXACT []
synonym: "supraglottic part of larynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "supraglottic part of larynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "supraglottic tumor" EXACT [DOID:8002, NCIT:C6793]
synonym: "supraglottis neoplasm" EXACT [NCIT:C6793]
synonym: "supraglottis tumor" EXACT [NCIT:C6793]
synonym: "tumor of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of supraglottis" EXACT [NCIT:C6793]
synonym: "tumor of the supraglottis" EXACT [NCIT:C6793]
xref: DOID:8002 {source="MONDO:equivalentTo"}
xref: NCIT:C6793 {source="MONDO:equivalentTo", source="DOID:8002", source="exact-label-match"}
xref: SCTID:126697005 {source="MONDO:equivalentTo", source="DOID:8002", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345726 {source="NCIT:C6793", source="MONDO:equivalentTo", source="DOID:8002"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="MONDOLEX:0004427", source="NCIT:C6793", source="linkedlifedata"} ! laryngeal neoplasm
property_value: exactMatch DOID:8002
property_value: exactMatch http://identifiers.org/snomedct/126697005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345726
property_value: exactMatch NCIT:C6793

[Term]
id: MONDO:0004428
name: alveoli adenoma
def: "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." [NCIT:P378]
synonym: "adenoma of alveoli" EXACT [DOID:8003, NCIT:C4140]
synonym: "adenoma of the alveoli" EXACT [DOID:8003, NCIT:C4140]
synonym: "adenoma, bronchioloalveolar, benign" EXACT [NCIT:C4140]
synonym: "alveolar adenoma" EXACT [NCIT:C4140]
synonym: "alveolar adenoma (morphologic abnormality)" EXACT [DOID:8003]
xref: DOID:8003 {source="MONDO:equivalentTo"}
xref: ICDO:8251/0 {source="NCIT:C4140"}
xref: NCIT:C4140 {source="MONDO:equivalentTo", source="DOID:8003", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334303 {source="NCIT:C4140", source="MONDO:equivalentTo", source="DOID:8003"}
is_a: MONDO:0003422 {source="DOID:8003", source="NCIT:C4140"} ! lung adenoma
property_value: closeMatch http://identifiers.org/snomedct/8097004
property_value: exactMatch DOID:8003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334303
property_value: exactMatch NCIT:C4140

[Term]
id: MONDO:0004429
name: skin meningioma
def: "A meningioma (disease) that involves the zone of skin." [MONDO:patterns/location]
synonym: "meningioma (disease) of zone of skin" EXACT []
synonym: "primary meningioma of the skin" EXACT [DOID:8006, NCIT:C5277]
synonym: "zone of skin meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8006 {source="MONDO:equivalentTo"}
xref: UMLS:C1335481 {source="DOID:8006", source="MONDO:equivalentTo"}
is_a: MONDO:0002898 {source="DOID:8006", source="MONDO:Entailed"} ! skin cancer
is_a: MONDO:0016642 ! meningioma (disease)
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: exactMatch DOID:8006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335481

[Term]
id: MONDO:0004430
name: penis mixed squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)." [NCIT:C39959]
synonym: "mixed squamous cell carcinoma of the penis" EXACT [NCIT:C39959]
xref: DOID:8009 {source="MONDO:equivalentTo"}
xref: NCIT:C39959 {source="DOID:8009", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1513369 {source="DOID:8009", source="MONDO:equivalentTo", source="NCIT:C39959"}
is_a: MONDO:0018352 {source="DOID:8009", source="MONDOLEX:0004430", source="NCIT:C39959"} ! squamous cell carcinoma of penis
property_value: exactMatch DOID:8009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513369
property_value: exactMatch NCIT:C39959

[Term]
id: MONDO:0004431
name: hemarthrosis
def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395]
synonym: "haemarthrosis of shoulder joint" NARROW [DOID:801]
synonym: "haemarthrosis of the ankle and foot" NARROW [DOID:801]
synonym: "haemarthrosis of the pelvic region and thigh" NARROW [DOID:801]
synonym: "hemarthrosis involving ankle and foot" NARROW [DOID:801, ICD9CM_2006:719.17]
synonym: "hemarthrosis involving forearm" NARROW [DOID:801, ICD9CM_2006:719.13]
synonym: "hemarthrosis involving hand" NARROW [DOID:801, ICD9CM_2006:719.14]
synonym: "hemarthrosis involving lower leg" NARROW [DOID:801, ICD9CM_2006:719.16]
synonym: "hemarthrosis involving pelvic region and thigh" NARROW [DOID:801, ICD9CM_2006:719.15]
synonym: "hemarthrosis involving shoulder region" NARROW [DOID:801, ICD9CM_2006:719.11]
synonym: "hemarthrosis involving upper arm" NARROW [DOID:801, ICD9CM_2006:719.12]
synonym: "hemarthrosis of ankle and/or foot" EXACT [DOID:801]
synonym: "hemarthrosis of forearm" NARROW [DOID:801]
synonym: "hemarthrosis of hand" NARROW [DOID:801]
synonym: "hemarthrosis of lower leg" NARROW [DOID:801]
synonym: "hemarthrosis of shoulder" NARROW [DOID:801]
synonym: "hemarthrosis of shoulder region" EXACT [DOID:801]
synonym: "hemarthrosis of the ankle and foot" NARROW [DOID:801]
synonym: "hemarthrosis of the ankle and/or foot" EXACT [DOID:801]
synonym: "hemarthrosis of the forearm" NARROW [DOID:801]
synonym: "hemarthrosis of the hand" NARROW [DOID:801]
synonym: "hemarthrosis of the lower leg" NARROW [DOID:801]
synonym: "hemarthrosis of the pelvic region and thigh" NARROW [DOID:801]
synonym: "hemarthrosis of the shoulder region" EXACT [DOID:801]
synonym: "hemarthrosis of the upper arm" NARROW [DOID:801]
synonym: "hemarthrosis of upper arm" NARROW [DOID:801]
xref: COHD:76784 {source="MONDO:equivalentTo"}
xref: DOID:801 {source="MONDO:equivalentTo"}
xref: EFO:1001344 {source="MONDO:equivalentTo"}
xref: ICD10:M25.0 {source="DOID:801"}
xref: ICD9:719.1 {source="DOID:801"}
xref: ICD9:719.10 {source="DOID:801", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:719.18 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006395 {source="DOID:801", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:81808003 {source="DOID:801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.47/0.06"}
xref: UMLS:C0158159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:801", source="MESH:D006395", source="linkedlifedata"} ! arthropathy
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156581006
property_value: closeMatch http://identifiers.org/snomedct/156591000
property_value: closeMatch http://identifiers.org/snomedct/202394001
property_value: closeMatch http://identifiers.org/snomedct/202422006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018924
property_value: exactMatch DOID:801
property_value: exactMatch http://identifiers.org/mesh/D006395
property_value: exactMatch http://identifiers.org/snomedct/81808003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158159

[Term]
id: MONDO:0004432
name: mature pericardial teratoma
def: "A benign teratoma that arises from the pericardium." [NCIT:C6744]
synonym: "benign pericardial teratoma" EXACT [NCIT:C6744]
synonym: "mature pericardial teratoma" EXACT [NCIT:C6744]
synonym: "mature teratoma of pericardium" EXACT [DOID:8012, NCIT:C6744]
synonym: "mature teratoma of the pericardium" EXACT [NCIT:C6744]
synonym: "pericardium mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:8012 {source="MONDO:equivalentTo"}
xref: NCIT:C6744 {source="MONDO:equivalentTo", source="DOID:8012"}
xref: UMLS:C1334638 {source="MONDO:equivalentTo", source="NCIT:C6744", source="DOID:8012"}
is_a: MONDO:0003517 {source="MONDO:Redundant", source="MONDOLEX:0004432", source="NCIT:C6744"} ! mature teratoma
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C6744/inferred"} ! neoplasm of pericardium
property_value: exactMatch DOID:8012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334638
property_value: exactMatch NCIT:C6744

[Term]
id: MONDO:0004433
name: papillary carcinoma of the penis
def: "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern." [NCIT:C6983]
synonym: "papillary carcinoma of penis" EXACT [NCIT:C6983]
synonym: "papillary carcinoma of the penis" EXACT [NCIT:C6983]
synonym: "papillary penile carcinoma" EXACT [NCIT:C6983]
synonym: "papillary penile squamous carcinoma" EXACT [NCIT:C6983]
synonym: "papillary squamous carcinoma of penis" EXACT [NCIT:C6983]
synonym: "papillary squamous carcinoma of the penis" EXACT [NCIT:C6983]
synonym: "penis papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous carcinoma of penis, papillary type" EXACT [DOID:8013, NCIT:C6983]
synonym: "squamous carcinoma of the penis, papillary type" EXACT [NCIT:C6983]
xref: DOID:8013 {source="MONDO:equivalentTo"}
xref: NCIT:C6983 {source="MONDO:equivalentTo", source="DOID:8013"}
xref: UMLS:C1335322 {source="MONDO:equivalentTo", source="NCIT:C6983", source="DOID:8013"}
is_a: MONDO:0002979 {source="MONDO:Redundant", source="MONDOLEX:0004433", source="NCIT:C6983"} ! papillary squamous carcinoma
is_a: MONDO:0018352 {source="DOID:8013", source="MONDO:Redundant", source="NCIT:C6983"} ! squamous cell carcinoma of penis
property_value: exactMatch DOID:8013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335322
property_value: exactMatch NCIT:C6983

[Term]
id: MONDO:0004434
name: obsolete glomangiomyoma
is_obsolete: true
replaced_by: MONDO:0002299

[Term]
id: MONDO:0004435
name: liver fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5832]
synonym: "fibrosarcoma of liver" EXACT [NCIT:C5832]
synonym: "fibrosarcoma of the liver" EXACT [NCIT:C5832]
synonym: "hepatic fibrosarcoma" EXACT [NCIT:C5832]
synonym: "liver fibrosarcoma" EXACT [NCIT:C5832]
synonym: "liver fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8022 {source="MONDO:equivalentTo"}
xref: NCIT:C5832 {source="MONDO:equivalentTo", source="DOID:8022", source="exact-label-match"}
xref: UMLS:C1333966 {source="MONDO:equivalentTo", source="DOID:8022", source="NCIT:C5832"}
is_a: MONDO:0002397 {source="DOID:8022", source="MONDO:Redundant", source="NCIT:C5832"} ! liver sarcoma
is_a: MONDO:0005164 {source="DOID:8022", source="MONDO:Redundant", source="MONDOLEX:0004435", source="NCIT:C5832/inferred"} ! fibrosarcoma (disease)
property_value: exactMatch DOID:8022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333966
property_value: exactMatch NCIT:C5832

[Term]
id: MONDO:0004436
name: ovarian myxoid liposarcoma
def: "A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." [NCIT:C5235]
synonym: "myxoid liposarcoma of ovary" EXACT [DOID:8023, NCIT:C5235]
synonym: "myxoid liposarcoma of the ovary" EXACT [NCIT:C5235]
synonym: "ovarian myxoid liposarcoma" EXACT [NCIT:C5235]
synonym: "ovary myxoid liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:8023 {source="MONDO:equivalentTo"}
xref: NCIT:C5235 {source="MONDO:equivalentTo", source="DOID:8023"}
xref: UMLS:C1335170 {source="MONDO:equivalentTo", source="NCIT:C5235", source="DOID:8023"}
is_a: MONDO:0003589 {source="DOID:8023", source="MONDO:Redundant", source="MONDOLEX:0004436", source="NCIT:C5235"} ! liposarcoma of the ovary
is_a: MONDO:0013280 {source="DOID:8023", source="MONDO:Redundant", source="MONDOLEX:0004436", source="NCIT:C5235"} ! myxoid liposarcoma
property_value: exactMatch DOID:8023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335170
property_value: exactMatch NCIT:C5235

[Term]
id: MONDO:0004437
name: obsolete gastric signet ring cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006409

[Term]
id: MONDO:0004438
name: sporadic breast cancer
def: "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." [NCIT:P378]
synonym: "sporadic breast cancer" EXACT [NCIT:C7566]
synonym: "sporadic breast carcinoma" EXACT [NCIT:C7566]
xref: DOID:8029 {source="MONDO:equivalentTo"}
xref: NCIT:C7566 {source="DOID:8029", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336076 {source="DOID:8029", source="MONDO:equivalentTo", source="NCIT:C7566"}
is_a: MONDO:0004989 {source="DOID:8029", source="MONDOLEX:0004438", source="NCIT:C7566"} ! breast carcinoma
property_value: exactMatch DOID:8029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336076
property_value: exactMatch NCIT:C7566

[Term]
id: MONDO:0004439
name: periocular meningioma
def: "A meningioma that affects the periocular region." [NCIT:P378]
xref: DOID:8030 {source="MONDO:equivalentTo"}
xref: NCIT:C6777 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8030"}
xref: UMLS:C1335383 {source="MONDO:equivalentTo", source="NCIT:C6777", source="DOID:8030"}
is_a: MONDO:0016642 {source="DOID:8030", source="MONDOLEX:0004439", source="NCIT:C6777/inferred"} ! meningioma (disease)
property_value: exactMatch DOID:8030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335383
property_value: exactMatch NCIT:C6777

[Term]
id: MONDO:0004440
name: pineal region meningioma
def: "A meningioma that affects the pineal gland." [NCIT:P378]
synonym: "meningioma (disease) of pineal body" EXACT []
synonym: "meningioma of pineal area" EXACT [NCIT:C6756]
synonym: "meningioma of pineal gland" EXACT [NCIT:C6756]
synonym: "meningioma of pineal region" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal area" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal gland" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal region" EXACT [NCIT:C6756]
synonym: "pineal area meningioma" EXACT [NCIT:C6756]
synonym: "pineal body meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal gland meningioma" EXACT [NCIT:C6756]
synonym: "pineal meningioma" EXACT [DOID:8031, NCIT:C6756]
xref: DOID:8031 {source="MONDO:equivalentTo"}
xref: NCIT:C6756 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8031"}
xref: UMLS:C1335418 {source="MONDO:equivalentTo", source="DOID:8031", source="NCIT:C6756"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C6756"} ! pineal body neoplasm
relationship: excluded_subClassOf MONDO:0003249 {source="DOID:8031"} ! pineal gland cancer
property_value: exactMatch DOID:8031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335418
property_value: exactMatch NCIT:C6756

[Term]
id: MONDO:0004441
name: childhood ovarian embryonal carcinoma
def: "An embryonal carcinoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood embryonal carcinoma of ovary" EXACT [NCIT:C6546]
synonym: "childhood embryonal carcinoma of the ovary" RELATED [DOID:8036]
synonym: "ovarian embryonal carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric embryonal carcinoma of ovary" EXACT [DOID:8036, NCIT:C6546]
synonym: "pediatric embryonal carcinoma of the ovary" EXACT [NCIT:C6546]
synonym: "pediatric ovarian embryonal carcinoma" EXACT [MONDO:patterns/childhood, NCIT:C6546]
synonym: "pediatric ovarian embryonal carcinoma" RELATED [MONDO:patterns/childhood]
xref: DOID:8036 {source="MONDO:equivalentTo"}
xref: NCIT:C6546 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8036"}
xref: UMLS:C1332989 {source="MONDO:equivalentTo", source="NCIT:C6546", source="DOID:8036"}
is_a: MONDO:0003581 {source="DOID:8036", source="MONDO:Redundant", source="MONDOLEX:0004441", source="NCIT:C6546"} ! ovarian embryonal carcinoma
is_a: MONDO:0003760 ! pediatric ovarian germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
property_value: exactMatch DOID:8036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332989
property_value: exactMatch NCIT:C6546

[Term]
id: MONDO:0004442
name: testis polyembryoma
def: "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies." [NCIT:P378]
synonym: "polyembryoma of testis" EXACT [DOID:8042, NCIT:C40962]
synonym: "polyembryoma of the testis" EXACT [NCIT:C40962]
synonym: "testicular polyembryoma" EXACT [NCIT:C40962]
xref: DOID:8042 {source="MONDO:equivalentTo"}
xref: NCIT:C40962 {source="MONDO:equivalentTo", source="DOID:8042", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1514200 {source="MONDO:equivalentTo", source="DOID:8042", source="NCIT:C40962"}
is_a: MONDO:0003510 {source="DOID:8042", source="NCIT:C40962"} ! malignant testicular germ cell tumor
is_a: MONDO:0015863 {source="NCIT:C40962"} ! polyembryoma
property_value: exactMatch DOID:8042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514200
property_value: exactMatch NCIT:C40962

[Term]
id: MONDO:0004443
name: chest wall parachordoma
def: "A parachordoma arising from the chest wall." [NCIT:C6720]
synonym: "chest wall parachordoma" EXACT [MONDO:patterns/location, NCIT:C6720]
synonym: "parachordoma of chest wall" EXACT [NCIT:C6720]
synonym: "parachordoma of the chest wall" EXACT [DOID:8043, NCIT:C6720]
xref: DOID:8043 {source="MONDO:equivalentTo"}
xref: NCIT:C6720 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8043"}
xref: UMLS:C1332934 {source="MONDO:equivalentTo", source="NCIT:C6720", source="DOID:8043"}
is_a: MONDO:0006351 {source="DOID:8043", source="MONDO:Redundant", source="NCIT:C6720"} ! parachordoma
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C6720"} ! neoplasm of chest wall
property_value: exactMatch DOID:8043
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332934
property_value: exactMatch NCIT:C6720

[Term]
id: MONDO:0004444
name: bladder tubulo-cystic clear cell adenocarcinoma
def: "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." [NCIT:C39847]
synonym: "bladder tubulo-cystic clear cell adenocarcinoma" EXACT [NCIT:C39847]
xref: DOID:8050 {source="MONDO:equivalentTo"}
xref: NCIT:C39847 {source="MONDO:equivalentTo", source="DOID:8050", source="NCIT:C39847"}
xref: UMLS:C1511203 {source="MONDO:equivalentTo", source="DOID:8050", source="NCIT:C39847"}
is_a: MONDO:0003386 {source="DOID:8050", source="NCIT:C39847"} ! bladder clear cell adenocarcinoma
property_value: exactMatch DOID:8050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511203
property_value: exactMatch NCIT:C39847

[Term]
id: MONDO:0004445
name: bladder papillary clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern." [NCIT:C39848]
synonym: "bladder papillary clear cell adenocarcinoma" EXACT [NCIT:C39848]
xref: DOID:8051 {source="MONDO:equivalentTo"}
xref: NCIT:C39848 {source="DOID:8051", source="MONDO:equivalentTo", source="NCIT:C39848"}
xref: UMLS:C1511196 {source="DOID:8051", source="MONDO:equivalentTo", source="NCIT:C39848"}
is_a: MONDO:0003386 {source="DOID:8051", source="NCIT:C39848"} ! bladder clear cell adenocarcinoma
property_value: exactMatch DOID:8051
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511196
property_value: exactMatch NCIT:C39848

[Term]
id: MONDO:0004446
name: olfactory groove meningioma
def: "A meningioma that affects the olfactory sulcus." [NCIT:P378]
synonym: "meningioma (disease) of olfactory sulcus" EXACT []
synonym: "meningioma of olfactory groove" EXACT [NCIT:C6771]
synonym: "meningioma of the olfactory groove" EXACT [DOID:8057, NCIT:C6771]
synonym: "olfactory sulcus meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8057 {source="MONDO:equivalentTo"}
xref: NCIT:C6771 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8057"}
xref: UMLS:C1335107 {source="NCIT:C6771", source="MONDO:equivalentTo", source="DOID:8057"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0002997 {source="DOID:8057", source="NCIT:C6771"} ! anterior cranial fossa meningioma
property_value: exactMatch DOID:8057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335107
property_value: exactMatch NCIT:C6771

[Term]
id: MONDO:0004447
name: pituitary stalk meningioma
def: "A meningioma that affects the pituitary stalk." [NCIT:P378]
synonym: "meningioma (disease) of pituitary stalk" EXACT []
synonym: "meningioma of pituitary stalk" EXACT [NCIT:C5311]
synonym: "meningioma of the pituitary stalk" EXACT [DOID:8058, NCIT:C5311]
synonym: "pituitary stalk meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8058 {source="MONDO:equivalentTo"}
xref: NCIT:C5311 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8058"}
xref: UMLS:C1335422 {source="MONDO:equivalentTo", source="NCIT:C5311", source="DOID:8058"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0002997 {source="NCIT:C5311"} ! anterior cranial fossa meningioma
is_a: MONDO:0002998 ! skull base meningioma
is_a: MONDO:0003257 ! posterior pituitary gland neoplasm
relationship: disease_has_feature MONDO:0019833 {source="Orphanet:2495-modified"} ! pituitary hormone deficiency from tumoral origin
property_value: exactMatch DOID:8058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335422
property_value: exactMatch NCIT:C5311

[Term]
id: MONDO:0004448
name: frontal sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:P378]
synonym: "frontal sinus inverted papilloma" EXACT [MONDO:patterns/location]
synonym: "inverted papilloma of frontal sinus" EXACT [NCIT:C6842]
synonym: "inverted papilloma of the frontal sinus" EXACT [DOID:8060, NCIT:C6842]
xref: DOID:8060 {source="MONDO:equivalentTo"}
xref: NCIT:C6842 {source="DOID:8060", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333644 {source="DOID:8060", source="MONDO:equivalentTo", source="NCIT:C6842"}
is_a: MONDO:0002537 {source="DOID:8060", source="MONDO:Redundant", source="MONDOLEX:0004448", source="NCIT:C6842/inferred"} ! inverted papilloma
is_a: MONDO:0003752 {source="NCIT:C6842"} ! frontal sinus Schneiderian papilloma
property_value: exactMatch DOID:8060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333644
property_value: exactMatch NCIT:C6842

[Term]
id: MONDO:0004449
name: intraductal breast myoepitheliosis
def: "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts." [NCIT:P378]
xref: DOID:8068 {source="MONDO:equivalentTo"}
xref: NCIT:C40387 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8068"}
xref: UMLS:C1512935 {source="MONDO:equivalentTo", source="DOID:8068", source="NCIT:C40387"}
is_a: MONDO:0004262 {source="DOID:8068", source="NCIT:C40387"} ! breast myoepitheliosis
property_value: exactMatch DOID:8068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512935
property_value: exactMatch NCIT:C40387

[Term]
id: MONDO:0004450
name: carotid artery occlusion
def: "A occlusion precerebral artery that involves the carotid artery segment." [MONDO:design_pattern]
synonym: "carotid artery segment occlusion precerebral artery" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "occlusion and stenosis of carotid artery" EXACT [DOID:807]
synonym: "occlusion precerebral artery of carotid artery segment" EXACT [MONDO:design_pattern]
xref: DOID:807 {source="MONDO:equivalentTo"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="i2s", source="DOID:807"}
xref: SCTID:266254007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265101 {source="MONDO:equivalentTo"}
is_a: MONDO:0003718 {source="DOID:807", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! occlusion precerebral artery
is_a: MONDO:0005269 ! carotid artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375275
property_value: exactMatch DOID:807
property_value: exactMatch http://identifiers.org/snomedct/266254007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265101

[Term]
id: MONDO:0004451
name: sarcomatous intrahepatic cholangiocarcinoma
def: "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells." [NCIT:P378]
synonym: "intrahepatic cholangiocarcinoma with extensive sarcomatous changes" EXACT [NCIT:C41620]
synonym: "sarcomatoid intrahepatic cholangiocarcinoma" EXACT [NCIT:C41620]
xref: DOID:8072 {source="MONDO:equivalentTo"}
xref: NCIT:C41620 {source="MONDO:equivalentTo", source="DOID:8072", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1519184 {source="MONDO:equivalentTo", source="DOID:8072", source="NCIT:C41620"}
is_a: MONDO:0003210 {source="DOID:8072", source="MONDOLEX:0004451", source="NCIT:C41620"} ! intrahepatic cholangiocarcinoma
property_value: exactMatch DOID:8072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519184
property_value: exactMatch NCIT:C41620

[Term]
id: MONDO:0004452
name: childhood central nervous system germinoma
def: "A germinoma arising from the central nervous system during childhood." [NCIT:P378]
synonym: "Central nervous system germinoma" EXACT [NCIT:C27406]
synonym: "central nervous system germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric central nervous system germinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric central nervous system germinoma" RELATED [MONDO:patterns/childhood]
xref: DOID:8078 {source="MONDO:equivalentTo"}
xref: NCIT:C27406 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/5.41", source="DOID:8078"}
xref: UMLS:C1332953 {source="MONDO:equivalentTo", source="NCIT:C27406", source="DOID:8078"}
is_a: MONDO:0002999 {source="DOID:8078", source="MONDO:Redundant", source="NCIT:C27406"} ! central nervous system germinoma
is_a: MONDO:0003750 ! childhood central nervous system germ cell tumor
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
property_value: exactMatch DOID:8078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332953
property_value: exactMatch NCIT:C27406

[Term]
id: MONDO:0004453
name: testicular yolk sac tumor, myxomatous pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." [NCIT:C39929]
synonym: "myxomatous pattern testicular yolk sac tumor" RELATED [DOID:8081]
synonym: "testicular yolk sac tumor, myxomatous pattern" EXACT [NCIT:C39929]
xref: DOID:8081 {source="MONDO:equivalentTo"}
xref: NCIT:C39929 {source="NCIT:C39929", source="DOID:8081", source="MONDO:equivalentTo"}
xref: UMLS:C1515309 {source="NCIT:C39929", source="DOID:8081", source="MONDO:equivalentTo"}
is_a: MONDO:0003402 {source="DOID:8081", source="MONDOLEX:0004453", source="NCIT:C39929"} ! testicular yolk sac tumor
property_value: exactMatch DOID:8081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515309
property_value: exactMatch NCIT:C39929

[Term]
id: MONDO:0004454
name: cellular congenital mesoblastic nephroma
def: "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present." [NCIT:C39815]
synonym: "cellular congenital mesoblastic nephroma" EXACT [NCIT:C39815]
xref: DOID:8082 {source="MONDO:equivalentTo"}
xref: NCIT:C39815 {source="DOID:8082", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1516474 {source="DOID:8082", source="MONDO:equivalentTo", source="NCIT:C39815"}
is_a: MONDO:0017043 {source="DOID:8082", source="MONDOLEX:0004454", source="NCIT:C39815"} ! congenital mesoblastic nephroma
property_value: exactMatch DOID:8082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516474
property_value: exactMatch NCIT:C39815

[Term]
id: MONDO:0004455
name: classic congenital mesoblastic nephroma
def: "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." [NCIT:C39814]
synonym: "classic congenital mesoblastic nephroma" EXACT [NCIT:C39814]
xref: DOID:8083 {source="MONDO:equivalentTo"}
xref: NCIT:C39814 {source="MONDO:equivalentTo", source="DOID:8083", source="exact-label-match"}
xref: UMLS:C1516475 {source="MONDO:equivalentTo", source="DOID:8083", source="NCIT:C39814"}
is_a: MONDO:0017043 {source="DOID:8083", source="MONDOLEX:0004455", source="NCIT:C39814"} ! congenital mesoblastic nephroma
property_value: exactMatch DOID:8083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516475
property_value: exactMatch NCIT:C39814

[Term]
id: MONDO:0004456
name: cocaine abuse
def: "Disorders related or resulting from use of cocaine." [MESH:D019970]
xref: DOID:809 {source="MONDO:equivalentTo"}
xref: ICD10:F14.1 {source="DOID:809"}
xref: ICD9:305.6 {source="DOID:809"}
xref: ICD9:305.60 {source="DOID:809"}
xref: SCTID:78267003 {source="MONDO:equivalentTo", source="DOID:809", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:809", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
property_value: closeMatch http://identifiers.org/mesh/D019970
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009171
property_value: exactMatch DOID:809
property_value: exactMatch http://identifiers.org/snomedct/78267003

[Term]
id: MONDO:0004457
name: maxillary sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6839]
synonym: "maxillary sinus paranasal sinus Schneiderian papilloma" EXACT [MONDO:patterns/location]
synonym: "maxillary sinus Schneiderian papilloma" EXACT [NCIT:C6839]
synonym: "paranasal sinus Schneiderian papilloma of maxillary sinus" EXACT [MONDO:design_pattern]
synonym: "Schneiderian papilloma of maxillary sinus" RELATED [NCIT:C6839]
synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [DOID:8093, NCIT:C6839]
xref: DOID:8093 {source="MONDO:equivalentTo"}
xref: NCIT:C6839 {source="DOID:8093", source="MONDO:equivalentTo"}
xref: UMLS:C1334646 {source="NCIT:C6839", source="DOID:8093", source="MONDO:equivalentTo"}
is_a: MONDO:0006353 {source="MONDO:Redundant", source="NCIT:C6839"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021484 {source="MONDO:Redundant", source="NCIT:C6839"} ! benign neoplasm of maxillary sinus
property_value: exactMatch DOID:8093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334646
property_value: exactMatch NCIT:C6839

[Term]
id: MONDO:0004458
name: bladder mixed adenocarcinoma
xref: DOID:8096 {source="MONDO:equivalentTo"}
xref: NCIT:C39839 {source="MONDO:equivalentTo", source="DOID:8096"}
xref: UMLS:C1511192 {source="MONDO:equivalentTo", source="DOID:8096", source="NCIT:C39839"}
is_a: MONDO:0002751 {source="DOID:8096", source="NCIT:C39839"} ! bladder adenocarcinoma
property_value: exactMatch DOID:8096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511192
property_value: exactMatch NCIT:C39839

[Term]
id: MONDO:0004459
name: bladder hepatoid adenocarcinoma
def: "A hepatoid adenocarcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder hepatoid adenocarcinoma" EXACT [NCIT:C39838]
xref: DOID:8097 {source="MONDO:equivalentTo"}
xref: NCIT:C39838 {source="MONDO:equivalentTo", source="DOID:8097", source="NCIT:C39838"}
xref: UMLS:C1511189 {source="MONDO:equivalentTo", source="DOID:8097", source="NCIT:C39838"}
is_a: MONDO:0002751 {source="DOID:8097", source="MONDO:Redundant", source="NCIT:C39838"} ! bladder adenocarcinoma
is_a: MONDO:0006243 {source="DOID:8097", source="MONDO:Redundant", source="NCIT:C39838"} ! hepatoid adenocarcinoma
property_value: exactMatch DOID:8097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511189
property_value: exactMatch NCIT:C39838

[Term]
id: MONDO:0004460
name: thyroid fetal adenoma
def: "A thyroid gland adenoma composed of microfollicular structures." [NCIT:P378]
synonym: "fetal adenoma" RELATED [DOID:8102]
synonym: "microfollicular adenoma" EXACT [NCIT:C4160]
synonym: "microfollicular adenoma (morphologic abnormality)" EXACT [DOID:8102]
synonym: "thyroid gland fetal adenoma" EXACT [NCIT:C4160]
synonym: "thyroid gland microfollicular adenoma" EXACT [NCIT:C4160]
xref: DOID:8102 {source="MONDO:equivalentTo"}
xref: ICDO:8333/0 {source="NCIT:C4160"}
xref: NCIT:C4160 {source="MONDO:equivalentTo", source="DOID:8102", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334328 {source="MONDO:equivalentTo", source="NCIT:C4160", source="DOID:8102"}
is_a: MONDO:0005032 {source="DOID:8102", source="MONDOLEX:0004460", source="NCIT:C4160"} ! follicular thyroid adenoma
property_value: closeMatch http://identifiers.org/snomedct/30301008
property_value: exactMatch DOID:8102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334328
property_value: exactMatch NCIT:C4160

[Term]
id: MONDO:0004461
name: vaginal tubulovillous adenoma
def: "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern." [NCIT:C40258]
synonym: "vaginal tubulovillous adenoma" EXACT [NCIT:C40258]
xref: DOID:8104 {source="MONDO:equivalentTo"}
xref: NCIT:C40258 {source="DOID:8104", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519933 {source="DOID:8104", source="MONDO:equivalentTo", source="NCIT:C40258"}
is_a: MONDO:0003434 {source="DOID:8104", source="MONDO:Redundant", source="NCIT:C40258"} ! vaginal adenoma
is_a: MONDO:0024661 {source="MONDOLEX:0004461", source="NCIT:C40258"} ! tubulovillous adenoma
property_value: exactMatch DOID:8104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519933
property_value: exactMatch NCIT:C40258

[Term]
id: MONDO:0004462
name: extrahepatic bile duct cystadenoma
def: "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." [NCIT:P378]
synonym: "cystadenoma of extrahepatic bile duct" EXACT [NCIT:C5851]
synonym: "cystadenoma of the extrahepatic bile duct" EXACT [DOID:8105, NCIT:C5851]
synonym: "extrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C5851]
synonym: "extrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C5851]
xref: DOID:8105 {source="MONDO:equivalentTo"}
xref: NCIT:C5851 {source="DOID:8105", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1333504 {source="DOID:8105", source="MONDO:equivalentTo", source="NCIT:C5851"}
is_a: MONDO:0003420 {source="DOID:8105", source="MONDO:Redundant", source="MONDOLEX:0004462", source="NCIT:C5851"} ! bile duct cystadenoma
is_a: MONDO:0003445 {source="DOID:8105", source="MONDO:Redundant", source="MONDOLEX:0004462"} ! extrahepatic bile duct adenoma
property_value: exactMatch DOID:8105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333504
property_value: exactMatch NCIT:C5851

[Term]
id: MONDO:0004463
name: cellular phase chronic idiopathic myelofibrosis
def: "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow." [NCIT:P378]
synonym: "chronic idiopathic myelofibrosis, cellular phase" EXACT [NCIT:C41237]
synonym: "chronic idiopathic myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237]
synonym: "PMFPES" RELATED [ONCOTREE:PMFPES]
synonym: "Prefibrotic/Early Primary myelofibrosis" EXACT [NCIT:C41237]
synonym: "Prefibrotic/Early Primary myelofibrosis" RELATED [NCIT:C41237]
synonym: "primary myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237]
synonym: "primary myelofibrosis, Prefibrotic/early stage" EXACT [NCIT:C41237]
xref: DOID:8106 {source="MONDO:equivalentTo"}
xref: NCIT:C41237 {source="DOID:8106", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: ONCOTREE:PMFPES {source="MONDO:equivalentTo"}
xref: UMLS:C1516553 {source="DOID:8106", source="MONDO:equivalentTo", source="NCIT:C41237"}
is_a: MONDO:0009692 {source="DOID:8106", source="NCIT:C41237", source="ONCOTREE:PMFPES"} ! primary myelofibrosis
property_value: exactMatch DOID:8106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516553
property_value: exactMatch NCIT:C41237

[Term]
id: MONDO:0004464
name: nephrogenic adenoma of the urethra
def: "A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." [NCIT:P378]
synonym: "nephrogenic adenoma of urethra" EXACT [DOID:8109, NCIT:C7416]
synonym: "urethra nephrogenic adenoma" EXACT [MONDO:patterns/location]
synonym: "urethral nephrogenic adenoma" EXACT [NCIT:C7416]
xref: DOID:8109 {source="MONDO:equivalentTo"}
xref: NCIT:C7416 {source="DOID:8109", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336889 {source="DOID:8109", source="MONDO:equivalentTo", source="NCIT:C7416"}
is_a: MONDO:0004177 {source="DOID:8109", source="MONDO:Entailed", source="MONDO:Redundant"} ! benign urethral neoplasm
is_a: MONDO:0004191 {source="DOID:8109", source="MONDO:Redundant", source="NCIT:C7416"} ! nephrogenic adenoma
property_value: exactMatch DOID:8109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336889
property_value: exactMatch NCIT:C7416

[Term]
id: MONDO:0004465
name: periampullary adenocarcinoma
def: "An adenocarcinoma that arises from the periampullary region." [NCIT:C27322]
synonym: "periampullary adenocarcinoma" EXACT [NCIT:C27322]
synonym: "periampullary cancer" EXACT [NCIT:C27322]
synonym: "periampullary region of duodenum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:8110 {source="MONDO:equivalentTo"}
xref: NCIT:C27322 {source="MONDO:equivalentTo", source="DOID:8110", source="exact-label-match"}
xref: UMLS:C1335377 {source="NCIT:C27322", source="MONDO:equivalentTo", source="DOID:8110"}
is_a: MONDO:0002670 {source="DOID:8110", source="MONDOLEX:0004465"} ! ampulla of vater adenocarcinoma
property_value: exactMatch DOID:8110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335377
property_value: exactMatch NCIT:C27322

[Term]
id: MONDO:0004466
name: neuronitis
comment: Editor note: check this
synonym: "neuroinflammation" RELATED [https://en.wikipedia.org/wiki/Neuroinflammation]
xref: DOID:8117 {source="MONDO:equivalentTo"}
xref: NCIT:C34847 {source="DOID:8117", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0027881 {source="NCIT:C34847", source="DOID:8117", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="DOID:8117/inferred", source="MONDO:Redundant", source="NCIT:C34847/inferred"} ! nervous system disorder
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: exactMatch DOID:8117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027881
property_value: exactMatch NCIT:C34847

[Term]
id: MONDO:0004467
name: mature gastric teratoma
def: "A benign teratoma that arises from the stomach." [NCIT:C5260]
synonym: "mature gastric teratoma" EXACT [NCIT:C5260]
synonym: "mature teratoma of stomach" EXACT [DOID:8118, NCIT:C5260]
synonym: "mature teratoma of the stomach" EXACT [NCIT:C5260]
synonym: "stomach mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:8118 {source="MONDO:equivalentTo"}
xref: NCIT:C5260 {source="DOID:8118", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334635 {source="DOID:8118", source="MONDO:equivalentTo", source="NCIT:C5260"}
is_a: MONDO:0003513 {source="DOID:8118", source="MONDO:Redundant", source="MONDOLEX:0004467", source="NCIT:C5260"} ! gastric teratoma
is_a: MONDO:0003517 {source="DOID:8118", source="MONDO:Redundant", source="MONDOLEX:0004467", source="NCIT:C5260"} ! mature teratoma
property_value: exactMatch DOID:8118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334635
property_value: exactMatch NCIT:C5260

[Term]
id: MONDO:0004468
name: anal canal Paget disease
def: "Paget disease involving the squamous epithelium of the anal canal." [NCIT:P378]
synonym: "anal canal mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "anal canal Paget disease" EXACT [DOID:8119, MONDO:patterns/location]
synonym: "anal canal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7477]
synonym: "Paget disease of the anal canal" EXACT [NCIT:C7477]
synonym: "Paget's disease of anal canal" EXACT [DOID:8119, NCIT:C7477]
synonym: "Paget's disease of the anal canal" EXACT [DOID:8119, NCIT:C7477]
xref: DOID:8119 {source="MONDO:equivalentTo"}
xref: NCIT:C7477 {source="DOID:8119", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:236811000119101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46"}
xref: UMLS:C1332261 {source="NCIT:C7477", source="DOID:8119", source="MONDO:equivalentTo"}
is_a: MONDO:0002651 {source="MONDO:Redundant", source="NCIT:C7477"} ! anal Paget disease
is_a: MONDO:0002735 {source="DOID:8119", source="MONDO:Redundant", source="NCIT:C7477"} ! anal canal adenocarcinoma (disease)
property_value: exactMatch DOID:8119
property_value: exactMatch http://identifiers.org/snomedct/236811000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332261
property_value: exactMatch NCIT:C7477

[Term]
id: MONDO:0004469
name: pseudovascular skin squamous cell carcinoma
synonym: "pseudovascular skin squamous cell carcinoma" EXACT [NCIT:C27542]
synonym: "skin pseudovascular squamous cell carcinoma" RELATED [NCIT:C27542]
xref: DOID:8122 {source="MONDO:equivalentTo"}
xref: NCIT:C27542 {source="MONDO:equivalentTo", source="DOID:8122"}
xref: UMLS:C1335974 {source="NCIT:C27542", source="MONDO:equivalentTo", source="DOID:8122"}
is_a: MONDO:0002529 {source="DOID:8122", source="MONDOLEX:0004469", source="NCIT:C27542"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C27542"} ! keratinizing squamous cell carcinoma
property_value: exactMatch DOID:8122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335974
property_value: exactMatch NCIT:C27542

[Term]
id: MONDO:0004470
name: obsolete osteochondrosis
is_obsolete: true
replaced_by: MONDO:0018381

[Term]
id: MONDO:0004471
name: bacterial arthritis
def: "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26699]
synonym: "infectious arthritis" BROAD [DOID:813]
synonym: "pyogenic arthritis" EXACT [NCIT:C26699]
synonym: "septic arthritis" EXACT [NCIT:C26699]
xref: DOID:813 {source="MONDO:equivalentTo"}
xref: EFO:1001351 {source="MONDO:equivalentTo"}
xref: ICD10:M00 {source="DOID:813"}
xref: ICD10:M00.9 {source="DOID:813"}
xref: ICD9:711.0 {source="DOID:813"}
xref: ICD9:711.40 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:711.9 {source="DOID:813"}
xref: ICD9:711.90 {source="DOID:813"}
xref: ICD9:711.91 {source="DOID:813"}
xref: ICD9:711.92 {source="DOID:813"}
xref: ICD9:711.93 {source="DOID:813"}
xref: ICD9:711.94 {source="DOID:813"}
xref: ICD9:711.95 {source="DOID:813"}
xref: ICD9:711.96 {source="DOID:813"}
xref: ICD9:711.97 {source="DOID:813"}
xref: MESH:D001170 {source="DOID:813", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26699 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: SCTID:48245008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.11"}
is_a: MONDO:0042485 ! infective arthritis
intersection_of: MONDO:0005578 ! arthritis
intersection_of: realized_in_response_to_stimulus MONDO:0005113 ! bacterial infectious disease
relationship: realized_in_response_to_stimulus MONDO:0005113 ! bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/156470005
property_value: closeMatch http://identifiers.org/snomedct/196415003
property_value: closeMatch http://identifiers.org/snomedct/201455003
property_value: closeMatch http://identifiers.org/snomedct/201471003
property_value: closeMatch http://identifiers.org/snomedct/201591007
property_value: closeMatch http://identifiers.org/snomedct/201592000
property_value: closeMatch http://identifiers.org/snomedct/201593005
property_value: closeMatch http://identifiers.org/snomedct/201594004
property_value: closeMatch http://identifiers.org/snomedct/201595003
property_value: closeMatch http://identifiers.org/snomedct/201596002
property_value: closeMatch http://identifiers.org/snomedct/201597006
property_value: closeMatch http://identifiers.org/snomedct/201598001
property_value: closeMatch http://identifiers.org/snomedct/201599009
property_value: closeMatch http://identifiers.org/snomedct/201623005
property_value: closeMatch http://identifiers.org/snomedct/239776008
property_value: closeMatch http://identifiers.org/snomedct/371412008
property_value: closeMatch http://identifiers.org/snomedct/372938004
property_value: closeMatch http://identifiers.org/snomedct/372939007
property_value: closeMatch http://identifiers.org/snomedct/396234004
property_value: closeMatch http://identifiers.org/snomedct/428437005
property_value: closeMatch http://identifiers.org/snomedct/48548006
property_value: closeMatch http://identifiers.org/snomedct/55388007
property_value: closeMatch http://identifiers.org/snomedct/83486002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003869
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157843
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157844
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157845
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157846
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157847
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157848
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157849
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1692886
property_value: exactMatch DOID:813
property_value: exactMatch http://identifiers.org/mesh/D001170
property_value: exactMatch http://identifiers.org/snomedct/48245008
property_value: exactMatch NCIT:C26699

[Term]
id: MONDO:0004472
name: breast columnar cell mucinous carcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." [NCIT:C40355]
synonym: "breast columnar cell mucinous carcinoma" EXACT [NCIT:C40355]
xref: DOID:8130 {source="MONDO:equivalentTo"}
xref: NCIT:C40355 {source="MONDO:equivalentTo", source="DOID:8130", source="exact-label-match"}
xref: UMLS:C1511305 {source="MONDO:equivalentTo", source="DOID:8130", source="NCIT:C40355"}
is_a: MONDO:0002707 {source="DOID:8130"} ! breast mucinous carcinoma
property_value: exactMatch DOID:8130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511305
property_value: exactMatch NCIT:C40355

[Term]
id: MONDO:0004473
name: epiglottis cancer
def: "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." [NCIT:C4836]
synonym: "cancer of epiglottis" EXACT [MONDO:patterns/cancer]
synonym: "epiglottic cancer" EXACT [DOID:8133, NCIT:C35697]
synonym: "epiglottic carcinoma" NARROW [NCIT:C35697]
synonym: "epiglottic throat cancer" EXACT [NCIT:C35697]
synonym: "epiglottis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epiglottic neoplasm" EXACT [NCIT:C4836]
synonym: "malignant epiglottic tumor" EXACT [NCIT:C4836]
synonym: "malignant Epiglottis neoplasm" EXACT [NCIT:C4836]
synonym: "malignant epiglottis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Epiglottis tumor" EXACT [NCIT:C4836]
synonym: "malignant neoplasm of anterior aspect of epiglottis" NARROW [DOID:8133]
synonym: "malignant neoplasm of anterior epiglottis" EXACT [DOID:8133]
synonym: "malignant neoplasm of anterior surface of epiglottis" NARROW [DOID:8133, MTH:U001374]
synonym: "malignant neoplasm of Epiglottis" EXACT [NCIT:C4836]
synonym: "malignant neoplasm of epiglottis" EXACT [DOID:8133, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Epiglottis" EXACT [NCIT:C4836]
synonym: "malignant tumor of Epiglottis" EXACT [DOID:8133, NCIT:C4836]
synonym: "malignant tumor of the Epiglottis" EXACT [NCIT:C4836]
xref: DOID:8133 {source="MONDO:equivalentTo"}
xref: ICD10:C10.1 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: ICD9:146.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:8133"}
xref: NCIT:C35697 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: NCIT:C4836 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: SCTID:187681002 {source="MONDO:equivalentTo", source="DOID:8133", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004109 {source="MONDO:Redundant", source="NCIT:C35697/inferred", source="NCIT:C4836", source="linkedlifedata", source="linkedlifedata/inferred"} ! epiglottis neoplasm
is_a: MONDO:0004357 {source="NCIT:C35697"} ! carcinoma of supraglottis
is_a: MONDO:0005216 ! hypopharyngeal carcinoma
property_value: closeMatch http://identifiers.org/snomedct/187684005
property_value: closeMatch http://identifiers.org/snomedct/187849008
property_value: closeMatch http://identifiers.org/snomedct/308120004
property_value: closeMatch http://identifiers.org/snomedct/93670003
property_value: closeMatch http://identifiers.org/snomedct/93784003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496765
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0585946
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112382
property_value: exactMatch DOID:8133
property_value: exactMatch http://identifiers.org/snomedct/187681002
property_value: exactMatch NCIT:C35697
property_value: exactMatch NCIT:C4836

[Term]
id: MONDO:0004474
name: gallbladder lymphoma
def: "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." [NCIT:C5734]
synonym: "gall bladder lymphoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder lymphoma" EXACT [NCIT:C5734]
synonym: "lymphoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "lymphoma of gallbladder" EXACT [NCIT:C5734]
synonym: "lymphoma of the gallbladder" EXACT [DOID:8135, NCIT:C5734]
synonym: "primary gallbladder lymphoma" EXACT [NCIT:C5734]
xref: DOID:8135 {source="MONDO:equivalentTo"}
xref: NCIT:C5734 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:8135"}
xref: UMLS:C1333748 {source="MONDO:equivalentTo", source="NCIT:C5734", source="DOID:8135"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5734"} ! gastrointestinal lymphoma
is_a: MONDO:0005411 {source="DOID:8135", source="MONDO:Redundant", source="NCIT:C5734"} ! gallbladder cancer
property_value: exactMatch DOID:8135
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333748
property_value: exactMatch NCIT:C5734

[Term]
id: MONDO:0004475
name: thymus clear cell carcinoma
def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." [NCIT:C6462]
synonym: "clear cell carcinoma of the Thymus" EXACT [DOID:8137, NCIT:C6462]
synonym: "clear cell carcinoma of the Thymus" RELATED [NCIT:C6462]
synonym: "clear cell carcinoma of Thymus" EXACT [NCIT:C6462]
synonym: "thymic clear cell carcinoma" EXACT [NCIT:C6462]
synonym: "Thymus clear cell carcinoma" EXACT [NCIT:C6462]
synonym: "thymus clear cell carcinoma" EXACT [NCIT:C6462]
xref: DOID:8137 {source="MONDO:equivalentTo"}
xref: NCIT:C6462 {source="DOID:8137", source="NCIT:C6462", source="MONDO:equivalentTo"}
xref: UMLS:C1333069 {source="DOID:8137", source="NCIT:C6462", source="MONDO:equivalentTo"}
is_a: MONDO:0006451 {source="DOID:8137", source="MONDOLEX:0004475", source="NCIT:C6462"} ! thymic carcinoma
property_value: exactMatch DOID:8137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333069
property_value: exactMatch NCIT:C6462

[Term]
id: MONDO:0004476
name: obsolete thymus sarcomatoid carcinoma
def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." [NCIT:C6463]
is_obsolete: true
replaced_by: MONDO:0006452

[Term]
id: MONDO:0004477
name: adrenal gland ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the adrenal gland." [NCIT:C7646]
synonym: "adrenal ganglioneuroblastoma" EXACT [NCIT:C7646]
synonym: "adrenal gland ganglioneuroblastoma" EXACT [NCIT:C7646]
synonym: "adrenal gland ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "ganglioneuroblastoma (disease) of adrenal gland" EXACT []
xref: DOID:8140 {source="MONDO:equivalentTo"}
xref: NCIT:C7646 {source="MONDO:equivalentTo", source="DOID:8140", source="exact-label-match"}
xref: UMLS:C1332176 {source="MONDO:equivalentTo", source="NCIT:C7646", source="DOID:8140"}
is_a: MONDO:0003327 {source="MONDO:Entailed", source="NCIT:C7646"} ! peripheral ganglioneuroblastoma
is_a: MONDO:0006076 {source="DOID:8140"} ! adrenal gland neuroblastoma
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:8140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332176
property_value: exactMatch NCIT:C7646

[Term]
id: MONDO:0004478
name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
def: "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." [NCIT:P378]
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene" EXACT [NCIT:C37204]
synonym: "CLL/SLL with unmutated IGVH" EXACT [DOID:8144, NCIT:C37204]
synonym: "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37204]
xref: DOID:8144 {source="MONDO:equivalentTo"}
xref: NCIT:C37204 {source="MONDO:equivalentTo", source="DOID:8144"}
xref: UMLS:C1333038 {source="MONDO:equivalentTo", source="NCIT:C37204", source="DOID:8144"}
is_a: MONDO:0003864 {source="DOID:8144", source="MONDOLEX:0004478", source="NCIT:C37204"} ! chronic lymphocytic leukemia/small lymphocytic lymphoma
property_value: exactMatch DOID:8144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333038
property_value: exactMatch NCIT:C37204

[Term]
id: MONDO:0004479
name: malignant childhood germ cell neoplasm
def: "A malignant germ cell tumor that occurs during childhood." [NCIT:C6541]
synonym: "malignant childhood germ cell neoplasm" EXACT [NCIT:C6541]
synonym: "malignant childhood germ cell tumor" RELATED [NCIT:C6541]
synonym: "malignant pediatric germ cell neoplasm" RELATED [NCIT:C6541]
synonym: "malignant pediatric germ cell tumor" EXACT [DOID:8149, NCIT:C6541]
xref: DOID:8149 {source="MONDO:equivalentTo"}
xref: NCIT:C6541 {source="DOID:8149", source="MONDO:equivalentTo"}
xref: UMLS:C1334574 {source="DOID:8149", source="NCIT:C6541", source="MONDO:equivalentTo"}
is_a: MONDO:0003751 {source="DOID:8149", source="MONDO:Redundant", source="MONDOLEX:0004479", source="NCIT:C6541"} ! childhood germ cell tumor
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C6541"} ! malignant germ cell tumor
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C6541"} ! childhood malignant neoplasm
intersection_of: MONDO:0006290 {source="NCIT:C6541"} ! malignant germ cell tumor
intersection_of: MONDO:0006517 {source="NCIT:C6541"} ! childhood malignant neoplasm
property_value: exactMatch DOID:8149
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334574
property_value: exactMatch NCIT:C6541

[Term]
id: MONDO:0004480
name: obsolete pancreatic invasive intraductal papillary-mucinous carcinoma
is_obsolete: true
replaced_by: MONDO:0004481

[Term]
id: MONDO:0004481
name: pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma
def: "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma." [NCIT:C5726]
synonym: "pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726]
synonym: "pancreatic invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5726]
xref: DOID:8150 {source="MONDO:equivalentTo"}
xref: ICDO:8453/3 {source="NCIT:C5726"}
xref: NCIT:C5726 {source="DOID:8150", source="MONDO:equivalentTo"}
xref: UMLS:C1518871 {source="MEDGEN:kboom-pr98-c99", source="DOID:8150", source="MONDO:equivalentTo", source="NCIT:C5726"}
is_a: MONDO:0004285 {source="DOID:8150"} ! pancreatic intraductal papillary-mucinous carcinoma
is_a: MONDO:0004286 {source="DOID:8150/inferred", source="NCIT:C5726"} ! pancreatic intraductal papillary-mucinous neoplasm
is_a: MONDO:0006047 {source="DOID:8150/inferred", source="NCIT:C5726"} ! pancreatic adenocarcinoma
property_value: exactMatch DOID:8150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518871
property_value: exactMatch NCIT:C5726

[Term]
id: MONDO:0004482
name: fibroosseous pseudotumor of the digits
def: "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." [NCIT:C6573]
synonym: "fibroosseous digital pseudotumor" EXACT [DOID:8153, NCIT:C6573]
synonym: "fibroosseous pseudotumor of digits" EXACT [NCIT:C6573]
synonym: "fibroosseous pseudotumor of the digits" EXACT [NCIT:C6573]
xref: DOID:8153 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6573 {source="MONDO:equivalentTo", source="DOID:8153", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:403991009 {source="MONDO:equivalentTo"}
xref: UMLS:C1333612 {source="NCIT:C6573", source="MONDO:equivalentTo", source="DOID:8153"}
is_a: MONDO:0044967 ! limb disorder
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:8153"} ! bone benign neoplasm
property_value: exactMatch DOID:8153
property_value: exactMatch http://identifiers.org/snomedct/403991009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333612
property_value: exactMatch NCIT:C6573

[Term]
id: MONDO:0004483
name: thyroid gland oncocytic adenoma
def: "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." [NCIT:C6042]
synonym: "benign oncocytoma of the thyroid" EXACT [DOID:8162, NCIT:C6042]
synonym: "benign oncocytoma of the thyroid" RELATED [NCIT:C6042]
synonym: "benign oncocytoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "benign oncocytoma of thyroid" RELATED [NCIT:C6042]
synonym: "benign oncocytoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "benign thyroid gland oncocytoma" RELATED [NCIT:C6042]
synonym: "benign thyroid oncocytoma" RELATED [NCIT:C6042]
synonym: "follicular adenoma of the thyroid gland of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of the thyroid of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of thyroid gland of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of thyroid of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of the thyroid" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of thyroid" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "OAT" BROAD [ONCOTREE:OAT]
synonym: "oncocytic adenoma of the thyroid" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of thyroid" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "thyroid follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "thyroid gland oncocytic adenoma" EXACT [NCIT:C6042]
synonym: "thyroid Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "thyroid oncocytic adenoma" RELATED [NCIT:C6042]
xref: DOID:8162 {source="MONDO:equivalentTo"}
xref: NCIT:C6042 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"}
xref: ONCOTREE:OAT {source="MONDO:equivalentTo"}
xref: UMLS:C1336750 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"}
is_a: MONDO:0003424 {source="MONDOLEX:0004483", source="NCIT:C6042"} ! oncocytic adenoma
is_a: MONDO:0005032 {source="DOID:8162", source="MONDOLEX:0004483", source="NCIT:C6042"} ! follicular thyroid adenoma
property_value: exactMatch DOID:8162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336750
property_value: exactMatch NCIT:C6042

[Term]
id: MONDO:0004484
name: gallbladder melanoma
def: "A melanoma that arises from the gallbladder." [NCIT:C5735]
synonym: "gall bladder melanoma" EXACT []
synonym: "gall bladder melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder malignant melanoma" EXACT [NCIT:C5735]
synonym: "gallbladder melanoma" EXACT [NCIT:C5735]
synonym: "malignant melanoma of gallbladder" EXACT [DOID:8167, NCIT:C5735]
synonym: "malignant melanoma of the gallbladder" EXACT [NCIT:C5735]
synonym: "melanoma (disease) of gall bladder" EXACT []
synonym: "melanoma of gallbladder" EXACT [NCIT:C5735]
synonym: "melanoma of the gallbladder" EXACT [NCIT:C5735]
xref: DOID:8167 {source="MONDO:equivalentTo"}
xref: NCIT:C5735 {source="MONDO:equivalentTo", source="DOID:8167", source="exact-label-match"}
xref: UMLS:C1333749 {source="MONDO:equivalentTo", source="DOID:8167", source="NCIT:C5735"}
is_a: MONDO:0005411 {source="DOID:8167", source="MONDO:Redundant", source="NCIT:C5735"} ! gallbladder cancer
is_a: MONDO:0024502 ! gallbladder neuroendocrine neoplasm
is_a: MONDO:0045070 ! digestive system melanoma
property_value: exactMatch DOID:8167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333749
property_value: exactMatch NCIT:C5735

[Term]
id: MONDO:0004485
name: interstitial myocarditis
def: "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present." [NCIT:P378]
xref: DOID:817 {source="MONDO:equivalentTo"}
xref: NCIT:C35786 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:817"}
xref: SCTID:37925008 {source="MONDO:equivalentTo", source="DOID:817", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027060 {source="MONDO:equivalentTo", source="DOID:817", source="NCIT:C35786"}
is_a: MONDO:0004496 {source="DOID:817", source="MONDOLEX:0004485", source="NCIT:C35786", source="linkedlifedata"} ! myocarditis
relationship: excluded_subClassOf MONDO:0004492 {source="DOID:817", source="linkedlifedata", source="linkedlifedata/inferred"} ! mediastinitis
property_value: exactMatch DOID:817
property_value: exactMatch http://identifiers.org/snomedct/37925008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027060
property_value: exactMatch NCIT:C35786

[Term]
id: MONDO:0004486
name: endocervical type cervical adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present." [NCIT:P378]
synonym: "cervical adenomyoma, endocervical type" EXACT [NCIT:C40232]
xref: DOID:8177 {source="MONDO:equivalentTo"}
xref: NCIT:C40232 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58", source="DOID:8177"}
xref: UMLS:C1516405 {source="MONDO:equivalentTo", source="NCIT:C40232", source="DOID:8177"}
is_a: MONDO:0003238 {source="DOID:8177", source="MONDOLEX:0004486", source="NCIT:C40232"} ! cervical adenomyoma
property_value: exactMatch DOID:8177
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516405
property_value: exactMatch NCIT:C40232

[Term]
id: MONDO:0004487
name: endometrial type cervical adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia." [NCIT:P378]
synonym: "cervical adenomyoma, endometrial type" EXACT [NCIT:C40233]
xref: DOID:8178 {source="MONDO:equivalentTo"}
xref: NCIT:C40233 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58", source="DOID:8178"}
xref: UMLS:C1516406 {source="MONDO:equivalentTo", source="DOID:8178", source="NCIT:C40233"}
is_a: MONDO:0003238 {source="DOID:8178", source="MONDOLEX:0004487", source="NCIT:C40233"} ! cervical adenomyoma
property_value: exactMatch DOID:8178
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516406
property_value: exactMatch NCIT:C40233

[Term]
id: MONDO:0004488
name: cervical atypical polypoid adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity." [NCIT:P378]
xref: DOID:8179 {source="MONDO:equivalentTo"}
xref: NCIT:C40234 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8179"}
xref: UMLS:C1516409 {source="MONDO:equivalentTo", source="NCIT:C40234", source="DOID:8179"}
is_a: MONDO:0003238 {source="DOID:8179", source="NCIT:C40234"} ! cervical adenomyoma
property_value: exactMatch DOID:8179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516409
property_value: exactMatch NCIT:C40234

[Term]
id: MONDO:0004489
name: fallopian tube gestational choriocarcinoma
def: "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy." [NCIT:C6278]
synonym: "fallopian tube gestational choriocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6278]
synonym: "gestational choriocarcinoma of fallopian tube" EXACT [NCIT:C6278]
synonym: "gestational choriocarcinoma of the fallopian tube" EXACT [DOID:8186, NCIT:C6278]
xref: DOID:8186 {source="MONDO:equivalentTo"}
xref: NCIT:C6278 {source="MONDO:equivalentTo", source="DOID:8186", source="exact-label-match"}
xref: UMLS:C1333593 {source="NCIT:C6278", source="MONDO:equivalentTo", source="DOID:8186"}
is_a: MONDO:0003392 ! fallopian tube germ cell tumor
is_a: MONDO:0006206 {source="DOID:8186", source="MONDO:Entailed", source="NCIT:C6278"} ! fallopian tube carcinoma
is_a: MONDO:0020550 {source="DOID:8186", source="MONDO:Redundant", source="MONDOLEX:0004489", source="NCIT:C6278"} ! gestational choriocarcinoma
property_value: exactMatch DOID:8186
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333593
property_value: exactMatch NCIT:C6278

[Term]
id: MONDO:0004490
name: gestational uterine corpus choriocarcinoma
def: "A gestational choriocarcinoma that involves the body of uterus." [MONDO:patterns/location]
synonym: "body of uterus gestational choriocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gestational choriocarcinoma of body of uterus" EXACT [MONDO:design_pattern]
xref: DOID:8187 {source="MONDO:equivalentTo"}
is_a: MONDO:0004491 {source="DOID:8187", source="MONDO:Redundant", source="MONDOLEX:0004490"} ! uterine corpus choriocarcinoma
is_a: MONDO:0020550 {source="DOID:8187", source="MONDO:Redundant", source="MONDOLEX:0004490"} ! gestational choriocarcinoma
property_value: exactMatch DOID:8187

[Term]
id: MONDO:0004491
name: uterine corpus choriocarcinoma
def: "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." [NCIT:P378]
synonym: "body of uterus choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "choriocarcinoma" RELATED [ONCOTREE:UCCA]
synonym: "gestational uterine corpus choriocarcinoma" EXACT [NCIT:C27246]
synonym: "uterine corpus gestational choriocarcinoma" EXACT [NCIT:C27246]
xref: DOID:8188 {source="MONDO:equivalentTo"}
xref: NCIT:C27246 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.07", source="DOID:8188"}
xref: ONCOTREE:UCCA {source="MONDO:equivalentTo"}
xref: UMLS:C1336904 {source="MONDO:equivalentTo", source="DOID:8188"}
is_a: MONDO:0005207 {source="DOID:8188", source="MONDO:Redundant", source="NCIT:C27246/inferred"} ! choriocarcinoma (disease)
is_a: MONDO:0016273 ! malignant germ cell tumor of corpus uteri
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279677
property_value: exactMatch DOID:8188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336904
property_value: exactMatch NCIT:C27246

[Term]
id: MONDO:0004492
name: mediastinitis
def: "An inflammatory process affecting the mediastinum." [NCIT:P378]
xref: COHD:439045 {source="MONDO:equivalentTo"}
xref: DOID:819 {source="MONDO:equivalentTo"}
xref: ICD10:J98.5 {source="DOID:819"}
xref: ICD10:J98.51 {source="MONDO:equivalentTo"}
xref: ICD9:519.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:819"}
xref: MESH:D008480 {source="MONDO:equivalentTo", source="DOID:819", source="MONDO:ontobio"}
xref: NCIT:C26827 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:819"}
xref: SCTID:47597000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:819"}
xref: UMLS:C0025064 {source="MONDO:equivalentTo", source="DOID:819", source="NCIT:C26827"}
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0043707 ! mediastinal disease
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:819"} ! connective tissue disease
property_value: exactMatch DOID:819
property_value: exactMatch http://identifiers.org/mesh/D008480
property_value: exactMatch http://identifiers.org/snomedct/47597000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025064
property_value: exactMatch NCIT:C26827

[Term]
id: MONDO:0004493
name: testicular yolk sac tumor, papillary pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." [NCIT:C39928]
synonym: "papillary pattern testicular yolk sac tumor" RELATED [DOID:8193]
synonym: "testicular yolk sac tumor, papillary pattern" EXACT [NCIT:C39928]
xref: DOID:8193 {source="MONDO:equivalentTo"}
xref: NCIT:C39928 {source="MONDO:equivalentTo", source="DOID:8193", source="NCIT:C39928"}
xref: UMLS:C1515310 {source="MONDO:equivalentTo", source="DOID:8193", source="NCIT:C39928"}
is_a: MONDO:0003402 {source="DOID:8193", source="MONDOLEX:0004493", source="NCIT:C39928"} ! testicular yolk sac tumor
property_value: exactMatch DOID:8193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515310
property_value: exactMatch NCIT:C39928

[Term]
id: MONDO:0004494
name: testicular yolk sac tumor, hepatoid pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." [NCIT:C39931]
synonym: "hepatoid pattern testicular yolk sac tumor" RELATED [DOID:8195]
synonym: "testicular yolk sac tumor, hepatoid pattern" EXACT [NCIT:C39931]
xref: DOID:8195 {source="MONDO:equivalentTo"}
xref: NCIT:C39931 {source="MONDO:equivalentTo", source="NCIT:C39931", source="DOID:8195"}
xref: UMLS:C1515306 {source="MONDO:equivalentTo", source="NCIT:C39931", source="DOID:8195"}
is_a: MONDO:0003402 {source="DOID:8195", source="MONDOLEX:0004494", source="NCIT:C39931"} ! testicular yolk sac tumor
property_value: exactMatch DOID:8195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515306
property_value: exactMatch NCIT:C39931

[Term]
id: MONDO:0004495
name: myotonic cataract
def: "A cataract occurring as a sequela of myotonic dystrophy." [NCIT:P378]
xref: DOID:82 {source="MONDO:equivalentTo"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:366.43 {source="MONDO:equivalentTo", source="i2s", source="DOID:82"}
xref: NCIT:C34833 {source="MONDO:equivalentTo", source="DOID:82"}
xref: SCTID:64741003 {source="MONDO:equivalentTo", source="DOID:82", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027128 {source="MONDO:equivalentTo", source="DOID:82", source="NCIT:C34833"}
is_a: MONDO:0016107 {source="NCIT:C34833"} ! myotonic dystrophy
is_a: MONDO:0020225 ! syndromic cataract
property_value: exactMatch DOID:82
property_value: exactMatch http://identifiers.org/snomedct/64741003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027128
property_value: exactMatch NCIT:C34833

[Term]
id: MONDO:0004496
name: myocarditis
def: "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus , Wegener's granulomatosis , giant cell arteritis and Takayasu's arteritis . Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." [https://rarediseases.info.nih.gov/diseases/7137/myocarditis]
subset: gard_rare {source="GARD:0007137"}
synonym: "inflammation of myocardium" EXACT []
synonym: "myocardial inflammation" EXACT [DOID:820]
synonym: "myocardial inflammation (finding)" EXACT [DOID:820]
synonym: "myocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:314383 {source="MONDO:equivalentTo"}
xref: DOID:820 {source="MONDO:equivalentTo"}
xref: GARD:0007137 {source="MONDO:equivalentTo"}
xref: ICD10:I40 {source="MONDO:equivalentTo"}
xref: ICD10:I51.4 {source="DOID:820"}
xref: ICD9:429.0 {source="DOID:820", source="MONDO:equivalentTo", source="i2s"}
xref: KEGG:05416 {source="DOID:820", source="MONDO:equivalentTo"}
xref: MESH:D009205 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34831 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:50920009 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0027059 {source="DOID:820", source="MONDO:equivalentTo", source="NCIT:C34831"}
is_a: MONDO:0000591 {source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0024636 ! inflammation of heart layer
is_a: MONDO:0024643 ! myocardial disorder
relationship: excluded_subClassOf MONDO:0002824 {source="DOID:820"} ! extrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/155380004
property_value: closeMatch http://identifiers.org/snomedct/195119007
property_value: closeMatch http://identifiers.org/snomedct/251060004
property_value: exactMatch DOID:820
property_value: exactMatch http://identifiers.org/mesh/D009205
property_value: exactMatch http://identifiers.org/snomedct/50920009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027059
property_value: exactMatch NCIT:C34831
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7137/myocarditis xsd:anyURI {source="GARD:0007137"}

[Term]
id: MONDO:0004497
name: tertiary syphilis
def: "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." [NCIT:C128414]
synonym: "late syphilis" EXACT [DOID:8200]
synonym: "late tertiary syphilis" EXACT []
synonym: "tertiary syphilis" EXACT []
xref: COHD:435739 {source="MONDO:equivalentTo"}
xref: DOID:8200 {source="MONDO:equivalentTo"}
xref: ICD10:A52 {source="DOID:8200"}
xref: ICD10:A52.3 {source="MONDO:superClassOf", source="DOID:8200"}
xref: ICD10:A52.9 {source="DOID:8200"}
xref: ICD9:095.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:095.9 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:097.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8200"}
xref: MESH:C536774 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8200"}
xref: NCIT:C128414 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:72083004 {source="MONDO:kboom-pr-1.00/0.81/10.40", source="MONDO:equivalentTo", source="DOID:8200"}
xref: UMLS:C0153188 {source="MONDO:equivalentTo", source="NCIT:C128414", source="DOID:8200"}
is_a: MONDO:0005976 {source="DOID:8200", source="MESH:C536774", source="NCIT:C128414", source="linkedlifedata"} ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/186905004
property_value: closeMatch http://identifiers.org/snomedct/187358009
property_value: closeMatch http://identifiers.org/snomedct/276200006
property_value: exactMatch DOID:8200
property_value: exactMatch http://identifiers.org/mesh/C536774
property_value: exactMatch http://identifiers.org/snomedct/72083004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153188
property_value: exactMatch NCIT:C128414

[Term]
id: MONDO:0004498
name: sacral spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the sacral region of the spinal cord." [NCIT:P378]
synonym: "meningioma of sacral spinal canal and spinal cord" EXACT [NCIT:C5299]
synonym: "meningioma of the sacral spinal canal and spinal cord" EXACT [DOID:8203, NCIT:C5299]
synonym: "sacral intraspinal meningioma" EXACT [NCIT:C5299]
xref: DOID:8203 {source="MONDO:equivalentTo"}
xref: NCIT:C5299 {source="DOID:8203", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335893 {source="DOID:8203", source="NCIT:C5299", source="MONDO:equivalentTo"}
is_a: MONDO:0001279 {source="DOID:8203", source="MONDOLEX:0004498", source="NCIT:C5299"} ! intraspinal meningioma
property_value: exactMatch DOID:8203
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335893
property_value: exactMatch NCIT:C5299

[Term]
id: MONDO:0004499
name: lung hilum carcinoma
def: "A lung carcinoma arising from the hilum of the lung." [NCIT:C7454]
synonym: "carcinoma of lung hilus" EXACT [MONDO:patterns/carcinoma]
synonym: "hilar lung carcinoma" EXACT [NCIT:C7454]
synonym: "lung hilum cancer" EXACT [NCIT:C7454]
synonym: "lung hilum carcinoma" EXACT [NCIT:C7454]
synonym: "lung hilus carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:8207 {source="MONDO:equivalentTo"}
xref: NCIT:C7454 {source="DOID:8207", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"}
xref: UMLS:C1334445 {source="DOID:8207", source="NCIT:C7454", source="MONDO:equivalentTo"}
is_a: MONDO:0004332 {source="DOID:8207", source="MONDO:Redundant", source="MONDOLEX:0004499", source="NCIT:C7454"} ! lung hilum cancer
is_a: MONDO:0005138 {source="DOID:8207", source="MONDO:Redundant", source="MONDOLEX:0004499", source="NCIT:C7454"} ! lung carcinoma
property_value: exactMatch DOID:8207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334445
property_value: exactMatch NCIT:C7454

[Term]
id: MONDO:0004500
name: lung superior sulcus carcinoma
def: "A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor." [NCIT:P378]
synonym: "superior sulcus carcinoma of lung" RELATED [DOID:8208]
synonym: "superior sulcus carcinoma of the lung" EXACT [DOID:8208, NCIT:C7779]
synonym: "superior sulcus lung carcinoma" EXACT [NCIT:C7779]
xref: DOID:8208 {source="MONDO:equivalentTo"}
xref: NCIT:C7779 {source="DOID:8208", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336529 {source="DOID:8208", source="MONDO:equivalentTo", source="NCIT:C7779"}
is_a: MONDO:0006883 {source="DOID:8208", source="NCIT:C7779"} ! malignant superior sulcus neoplasm
property_value: exactMatch DOID:8208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336529
property_value: exactMatch NCIT:C7779

[Term]
id: MONDO:0004501
name: fallopian tube cystadenofibroma
def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder." [NCIT:C40114]
synonym: "cystadenofibroma of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube cystadenofibroma" EXACT [MONDO:patterns/location, NCIT:C40114]
synonym: "fallopian tube serous cystadenofibroma" EXACT [NCIT:C40114]
xref: DOID:8211 {source="MONDO:equivalentTo"}
xref: NCIT:C40114 {source="MONDO:equivalentTo", source="DOID:8211"}
xref: UMLS:C1517111 {source="MONDO:equivalentTo", source="DOID:8211", source="NCIT:C40114"}
is_a: MONDO:0003461 {source="DOID:8211", source="MONDO:Entailed", source="NCIT:C40114"} ! fallopian tube serous adenofibroma
is_a: MONDO:0003464 {source="DOID:8211", source="MONDO:Redundant", source="MONDOLEX:0004501", source="NCIT:C40114"} ! cystadenofibroma
property_value: exactMatch DOID:8211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517111
property_value: exactMatch NCIT:C40114

[Term]
id: MONDO:0004502
name: parapharyngeal meningioma
xref: DOID:8216 {source="MONDO:equivalentTo"}
xref: NCIT:C5303 {source="DOID:8216", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335345 {source="DOID:8216", source="MONDO:equivalentTo", source="NCIT:C5303"}
is_a: MONDO:0016642 {source="DOID:8216", source="MONDOLEX:0004502"} ! meningioma (disease)
property_value: exactMatch DOID:8216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335345
property_value: exactMatch NCIT:C5303

[Term]
id: MONDO:0004503
name: upper clivus meningioma
def: "A meningioma that affects the upper clivus." [NCIT:P378]
synonym: "meningioma of the upper clivus" EXACT [DOID:8221, NCIT:C5290]
synonym: "meningioma of upper clivus" EXACT [NCIT:C5290]
xref: DOID:8221 {source="MONDO:equivalentTo"}
xref: NCIT:C5290 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8221"}
xref: UMLS:C1336871 {source="MONDO:equivalentTo", source="DOID:8221", source="NCIT:C5290"}
is_a: MONDO:0003908 {source="DOID:8221", source="NCIT:C5290"} ! clivus meningioma
property_value: exactMatch DOID:8221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336871
property_value: exactMatch NCIT:C5290

[Term]
id: MONDO:0004504
name: penile urethral cancer
def: "A urethra cancer that involves the penis." [MONDO:patterns/location]
synonym: "penile urethral malignant neoplasm" EXACT [NCIT:C39868]
synonym: "penis urethra cancer" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethra cancer of penis" EXACT [MONDO:design_pattern]
xref: DOID:8223 {source="MONDO:equivalentTo"}
xref: NCIT:C39868 {source="MONDO:equivalentTo", source="DOID:8223"}
xref: UMLS:C1518950 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C39868", source="DOID:8223"}
is_a: MONDO:0001325 ! penile cancer
is_a: MONDO:0004197 {source="DOID:8223", source="NCIT:C39868"} ! male urethral cancer
property_value: exactMatch DOID:8223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518950
property_value: exactMatch NCIT:C39868

[Term]
id: MONDO:0004505
name: central breast papilloma
def: "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." [NCIT:P378]
synonym: "large duct breast papilloma" EXACT [DOID:8224, NCIT:C36087]
synonym: "solitary intraductal breast papilloma" EXACT [DOID:8224]
xref: DOID:8224 {source="MONDO:equivalentTo"}
xref: NCIT:C36087 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8224"}
xref: UMLS:C1332896 {source="NCIT:C36087", source="MONDO:equivalentTo", source="DOID:8224"}
is_a: MONDO:0021097 {source="DOID:8224", source="MONDOLEX:0004505", source="NCIT:C36087"} ! intraductal breast papilloma
property_value: exactMatch DOID:8224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332896
property_value: exactMatch NCIT:C36087

[Term]
id: MONDO:0004506
name: microscopic breast papilloma
def: "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." [NCIT:P378]
synonym: "microscopic breast papilloma" EXACT [NCIT:C36088]
synonym: "peripheral breast papilloma" EXACT [NCIT:C36088]
xref: DOID:8225 {source="MONDO:equivalentTo"}
xref: NCIT:C36088 {source="DOID:8225", source="MONDO:kboom-pr-1.00/0.91/27.46", source="MONDO:equivalentTo"}
xref: UMLS:C1335390 {source="DOID:8225", source="NCIT:C36088", source="MONDO:equivalentTo"}
is_a: MONDO:0021097 {source="DOID:8225", source="MONDOLEX:0004506", source="NCIT:C36088"} ! intraductal breast papilloma
property_value: exactMatch DOID:8225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335390
property_value: exactMatch NCIT:C36088

[Term]
id: MONDO:0004507
name: atypical breast papilloma
def: "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." [NCIT:C36089]
synonym: "atypical breast papilloma" EXACT [NCIT:C36089]
xref: DOID:8227 {source="MONDO:equivalentTo"}
xref: NCIT:C36089 {source="DOID:8227", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332346 {source="DOID:8227", source="NCIT:C36089", source="MONDO:equivalentTo"}
is_a: MONDO:0021097 {source="DOID:8227", source="MONDOLEX:0004507", source="NCIT:C36089"} ! intraductal breast papilloma
property_value: exactMatch DOID:8227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332346
property_value: exactMatch NCIT:C36089

[Term]
id: MONDO:0004508
name: periapical periodontitis
def: "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." [MESH:D010485]
synonym: "apical periodontitis" EXACT [DOID:823]
synonym: "apical periodontitis NOS" RELATED EXCLUDE [DOID:823, MTHICD9_2006:522.6]
xref: DOID:823 {source="MONDO:equivalentTo"}
xref: EFO:1001391 {source="MONDO:equivalentTo"}
xref: ICD10:K04.5 {source="DOID:823", source="MONDO:superClassOf"}
xref: MESH:D010485 {source="DOID:823", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:39273001 {source="DOID:823", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031030 {source="DOID:823", source="MONDO:equivalentTo"}
is_a: MONDO:0005076 {source="DOID:823", source="EFO:1001391", source="MESH:D010485", source="linkedlifedata"} ! periodontitis
property_value: exactMatch DOID:823
property_value: exactMatch http://identifiers.org/mesh/D010485
property_value: exactMatch http://identifiers.org/snomedct/39273001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031030

[Term]
id: MONDO:0004509
name: intrahepatic biliary papillomatosis
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts." [NCIT:P378]
synonym: "intrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7125]
synonym: "intrahepatic bile duct papillomatosis" EXACT [NCIT:C7125]
synonym: "intrahepatic biliary papillomatosis" EXACT [NCIT:C7125]
xref: DOID:8230 {source="MONDO:equivalentTo"}
xref: NCIT:C7125 {source="MONDO:equivalentTo", source="DOID:8230", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334258 {source="NCIT:C7125", source="MONDO:equivalentTo", source="DOID:8230"}
is_a: MONDO:0003455 {source="DOID:8230", source="MONDOLEX:0004509", source="NCIT:C7125"} ! bile duct papillary neoplasm
property_value: exactMatch DOID:8230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334258
property_value: exactMatch NCIT:C7125

[Term]
id: MONDO:0004510
name: inflammatory liposarcoma
def: "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates." [NCIT:C6508]
synonym: "inflammatory liposarcoma" EXACT [DOID:8233, NCIT:C6508]
xref: DOID:8233 {source="MONDO:equivalentTo"}
xref: NCIT:C6508 {source="MONDO:equivalentTo", source="DOID:8233", source="exact-label-match"}
xref: UMLS:C1370890 {source="MONDO:equivalentTo", source="DOID:8233", source="NCIT:C6508"}
is_a: MONDO:0005103 {source="NCIT:C6508"} ! well-differentiated liposarcoma
is_a: MONDO:0006097 {source="DOID:8233"} ! atypical lipomatous tumor
property_value: closeMatch http://identifiers.org/snomedct/28655007
property_value: exactMatch DOID:8233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370890
property_value: exactMatch NCIT:C6508

[Term]
id: MONDO:0004511
name: lower clivus meningioma
def: "A meningioma that affects the lower clivus." [NCIT:P378]
synonym: "meningioma of Lower clivus" EXACT [NCIT:C5288]
synonym: "meningioma of the lower clivus" EXACT [DOID:8239, NCIT:C5288]
xref: DOID:8239 {source="MONDO:equivalentTo"}
xref: NCIT:C5288 {source="DOID:8239", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1334434 {source="DOID:8239", source="NCIT:C5288", source="MONDO:equivalentTo"}
is_a: MONDO:0003908 {source="DOID:8239", source="NCIT:C5288"} ! clivus meningioma
property_value: exactMatch DOID:8239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334434
property_value: exactMatch NCIT:C5288

[Term]
id: MONDO:0004512
name: meningeal melanomatosis
def: "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" [NCIT:C6891]
synonym: "leptomeningeal melanomatosis" RELATED [DOID:8243, NCIT:C6891]
synonym: "melanomatosis of meningeal cluster" EXACT [MONDO:design_pattern]
synonym: "meningeal cluster melanomatosis" EXACT [MONDO:patterns/location]
synonym: "meningeal melanomatosis" EXACT [NCIT:C6891]
synonym: "meningeal melanomatosis (morphologic abnormality)" EXACT [DOID:8243]
xref: DOID:8243 {source="MONDO:equivalentTo"}
xref: ICDO:8728/3 {source="NCIT:C6891"}
xref: NCIT:C6891 {source="MONDO:equivalentTo", source="DOID:8243"}
xref: UMLS:C1266114 {source="NCIT:C6891", source="MONDO:equivalentTo", source="DOID:8243"}
is_a: MONDO:0004141 {source="MONDO:Redundant", source="MONDOLEX:0004512", source="NCIT:C6891"} ! melanomatosis
is_a: MONDO:0016747 ! primary melanoma of the central nervous system
property_value: closeMatch http://identifiers.org/snomedct/128731008
property_value: exactMatch DOID:8243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266114
property_value: exactMatch NCIT:C6891

[Term]
id: MONDO:0004513
name: adult pleomorphic rhabdomyosarcoma
def: "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities." [NCIT:C27369]
synonym: "adult pleomorphic rhabdomyosarcoma" EXACT [NCIT:C27369]
synonym: "pleomorphic rhabdomyosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:8251 {source="MONDO:equivalentTo"}
xref: ICDO:8901/3 {source="NCIT:C27369"}
xref: NCIT:C27369 {source="MONDO:equivalentTo", source="DOID:8251", source="exact-label-match"}
xref: UMLS:C1332211 {source="MONDO:equivalentTo", source="NCIT:C27369", source="DOID:8251"}
is_a: MONDO:0017386 {source="DOID:8251", source="MONDO:Redundant", source="MONDOLEX:0004513", source="NCIT:C27369"} ! pleomorphic rhabdomyosarcoma
property_value: exactMatch DOID:8251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332211
property_value: exactMatch NCIT:C27369

[Term]
id: MONDO:0004514
name: chronic rhinitis
def: "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." [NCIT:P378]
synonym: "rhinitis - chronic" EXACT [DOID:8252]
synonym: "rhinitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:259848 {source="MONDO:equivalentTo"}
xref: DOID:8252 {source="MONDO:equivalentTo"}
xref: ICD10:J31.0 {source="MONDO:equivalentTo", source="DOID:8252"}
xref: ICD9:472.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8252"}
xref: NCIT:C34479 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8252"}
xref: SCTID:86094006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8252"}
xref: UMLS:C0008711 {source="MONDO:equivalentTo", source="NCIT:C34479", source="DOID:8252"}
is_a: MONDO:0003014 {source="DOID:8252", source="MONDO:Redundant", source="NCIT:C34479", source="linkedlifedata"} ! rhinitis
property_value: closeMatch http://identifiers.org/snomedct/155522005
property_value: closeMatch http://identifiers.org/snomedct/195764003
property_value: closeMatch http://identifiers.org/snomedct/195774000
property_value: closeMatch http://identifiers.org/snomedct/270532004
property_value: exactMatch DOID:8252
property_value: exactMatch http://identifiers.org/snomedct/86094006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008711
property_value: exactMatch NCIT:C34479

[Term]
id: MONDO:0004515
name: obsolete olfactory neural tumor
is_obsolete: true
replaced_by: MONDO:0002722

[Term]
id: MONDO:0004516
name: bulbomembranous urethral cancer
synonym: "bulbomembranous urethral malignant neoplasm" EXACT [NCIT:C39869]
xref: DOID:8259 {source="MONDO:equivalentTo"}
xref: NCIT:C39869 {source="DOID:8259", source="MONDO:equivalentTo"}
xref: UMLS:C1511339 {source="DOID:8259", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C39869"}
is_a: MONDO:0004197 {source="DOID:8259", source="NCIT:C39869"} ! male urethral cancer
property_value: exactMatch DOID:8259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511339
property_value: exactMatch NCIT:C39869

[Term]
id: MONDO:0004517
name: ureter tuberculosis
def: "A tuberculosis that involves the ureter." [MONDO:patterns/location]
synonym: "tuberculosis of ureter" EXACT [DOID:827]
synonym: "ureter tuberculosis" EXACT [MONDO:patterns/location]
xref: DOID:827 {source="MONDO:equivalentTo"}
xref: ICD9:016.2 {source="DOID:827"}
xref: ICD9:016.20 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:81359005 {source="MONDO:equivalentTo", source="DOID:827", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152800 {source="MONDO:equivalentTo", source="DOID:827"}
is_a: MONDO:0001926 ! ureteral disease
is_a: MONDO:0005247 ! urinary tract infection (disease)
is_a: MONDO:0006002 {source="DOID:827", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis
property_value: exactMatch DOID:827
property_value: exactMatch http://identifiers.org/snomedct/81359005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152800

[Term]
id: MONDO:0004518
name: anterior urethra cancer
def: "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body." [NCIT:P378]
synonym: "anterior urethra malignant neoplasm" EXACT [NCIT:C7641]
synonym: "anterior urethra malignant tumor" EXACT [NCIT:C7641]
synonym: "anterior urethral cancer" EXACT [NCIT:C7641]
synonym: "anterior urethral malignant neoplasm" EXACT [NCIT:C7641]
synonym: "anterior urethral malignant tumor" EXACT [DOID:8272, NCIT:C7641]
synonym: "malignant neoplasm of anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant neoplasm of the anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant tumor of anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant tumor of the anterior urethra" EXACT [NCIT:C7641]
xref: DOID:8272 {source="MONDO:equivalentTo"}
xref: NCIT:C7641 {source="MONDO:equivalentTo", source="DOID:8272", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279930 {source="NCIT:C7641", source="MONDO:equivalentTo", source="DOID:8272"}
is_a: MONDO:0004192 {source="DOID:8272/inferred", source="MONDO:Redundant", source="MONDOLEX:0004518", source="NCIT:C7641"} ! urethra cancer
relationship: excluded_subClassOf MONDO:0004203 {source="DOID:8272"} ! female urethral cancer
property_value: exactMatch DOID:8272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279930
property_value: exactMatch NCIT:C7641

[Term]
id: MONDO:0004519
name: synovial angioma
def: "A rare hemangioma arising from synovium lining surfaces." [NCIT:C6525]
synonym: "angioma of synovium" EXACT [NCIT:C6525]
synonym: "angioma of the synovium" EXACT [NCIT:C6525]
synonym: "hemangioma of layer of synovial tissue" EXACT [MONDO:design_pattern]
synonym: "hemangioma of synovium" EXACT [DOID:8274, NCIT:C6525]
synonym: "hemangioma of the synovium" EXACT [NCIT:C6525]
synonym: "layer of synovial tissue hemangioma" EXACT [MONDO:patterns/location]
synonym: "synovial hemangioma" EXACT [NCIT:C6525]
xref: DOID:8274 {source="MONDO:equivalentTo"}
xref: NCIT:C6525 {source="MONDO:equivalentTo", source="DOID:8274", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1336546 {source="MONDO:equivalentTo", source="DOID:8274", source="NCIT:C6525"}
is_a: MONDO:0006500 {source="DOID:8274/inferred", source="MONDO:Redundant", source="NCIT:C6525"} ! hemangioma
is_a: MONDO:0024715 {source="NCIT:C6525"} ! benign synovial neoplasm
relationship: excluded_subClassOf MONDO:0003096 {source="DOID:8274"} ! deep hemangioma
property_value: exactMatch DOID:8274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336546
property_value: exactMatch NCIT:C6525

[Term]
id: MONDO:0004520
name: intratubular embryonal carcinoma
def: "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" [NCIT:C7325]
synonym: "intratubular embryonal carcinoma" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v6" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v6 and v7" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v7" EXACT [NCIT:C7325]
xref: DOID:8275 {source="MONDO:equivalentTo"}
xref: NCIT:C7325 {source="MONDO:equivalentTo", source="DOID:8275"}
xref: UMLS:C1336096 {source="MONDO:equivalentTo", source="NCIT:C7325", source="DOID:8275"}
is_a: MONDO:0006446 {source="DOID:8275", source="MONDOLEX:0004520", source="NCIT:C7325"} ! testicular embryonal carcinoma
property_value: exactMatch DOID:8275
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336096
property_value: exactMatch NCIT:C7325

[Term]
id: MONDO:0004521
name: adult epithelioid sarcoma
def: "An epithelioid sarcoma occurring in adults." [NCIT:C7944]
synonym: "adult epithelioid sarcoma" EXACT [NCIT:C7944]
synonym: "epithelioid sarcoma" EXACT [NCIT:C7944]
synonym: "epithelioid sarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:8282 {source="MONDO:equivalentTo"}
xref: NCIT:C7944 {source="DOID:8282", source="MONDO:equivalentTo"}
xref: UMLS:C0279545 {source="DOID:8282", source="MONDO:equivalentTo", source="NCIT:C7944"}
is_a: MONDO:0017387 {source="DOID:8282", source="MONDO:Redundant", source="NCIT:C7944"} ! epithelioid sarcoma
property_value: exactMatch DOID:8282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279545
property_value: exactMatch NCIT:C7944

[Term]
id: MONDO:0004522
name: peritonitis
def: "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." [NCIT:C26849]
synonym: "acute generalized peritonitis" EXACT [DOID:8283]
synonym: "inflammation of peritoneum" EXACT []
synonym: "peritoneum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "primary bacterial peritonitis" EXACT [DOID:8283]
synonym: "retractile mesenteritis" EXACT [DOID:8283, MTHICD9_2006:567.82]
synonym: "sclerosing mesenteritis" EXACT EXCLUDE [DOID:8283]
xref: COHD:196152 {source="MONDO:equivalentTo"}
xref: DOID:8283 {source="MONDO:equivalentTo"}
xref: EFO:0008588 {source="MONDO:equivalentTo"}
xref: ICD9:567.8 {source="DOID:8283"}
xref: ICD9:567.82 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:567.89 {source="DOID:8283"}
xref: NCIT:C26849 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:86422009 {source="MONDO:kboom-pr-0.89/0.75/0.23", source="MONDO:equivalentTo"}
is_a: MONDO:0004335 {source="DOID:8283", source="EFO:0008588"} ! digestive system disease
is_a: MONDO:0020591 ! disease of peritoneum
is_a: MONDO:0043786 ! serositis
property_value: closeMatch http://identifiers.org/snomedct/197183001
property_value: closeMatch http://identifiers.org/snomedct/197187000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029823
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031154
property_value: exactMatch DOID:8283
property_value: exactMatch http://identifiers.org/snomedct/86422009
property_value: exactMatch NCIT:C26849

[Term]
id: MONDO:0004523
name: clear cell squamous cell skin carcinoma
def: "A squamous cell carcinoma of the skin with a prominent clear cell component." [NCIT:C4459]
synonym: "clear cell squamous cell carcinoma of skin" EXACT [NCIT:C4459]
synonym: "clear cell squamous cell carcinoma of the skin" EXACT [NCIT:C4459]
synonym: "clear cell squamous cell skin carcinoma" EXACT [DOID:8288, NCIT:C4459]
xref: DOID:8288 {source="MONDO:equivalentTo"}
xref: NCIT:C4459 {source="MONDO:equivalentTo", source="DOID:8288", source="exact-label-match"}
xref: SCTID:254652000 {source="MONDO:equivalentTo", source="DOID:8288", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345978 {source="MONDO:equivalentTo", source="DOID:8288", source="NCIT:C4459"}
is_a: MONDO:0002529 {source="DOID:8288", source="MONDOLEX:0004523", source="NCIT:C4459", source="linkedlifedata"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4459"} ! keratinizing squamous cell carcinoma
property_value: exactMatch DOID:8288
property_value: exactMatch http://identifiers.org/snomedct/254652000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345978
property_value: exactMatch NCIT:C4459

[Term]
id: MONDO:0004524
name: atypical follicular adenoma
def: "A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign." [NCIT:P378]
synonym: "atypical follicular adenoma" EXACT [DOID:8292, NCIT:C27729]
synonym: "atypical follicular adenoma (morphologic abnormality)" EXACT [DOID:8292]
synonym: "thyroid gland atypical follicular adenoma" EXACT [NCIT:C27729]
xref: DOID:8292 {source="MONDO:equivalentTo"}
xref: ICDO:8330/1 {source="NCIT:C27729"}
xref: NCIT:C27729 {source="MONDO:equivalentTo", source="DOID:8292", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1266046 {source="MONDO:equivalentTo", source="DOID:8292", source="NCIT:C27729"}
is_a: MONDO:0005032 {source="DOID:8292", source="MONDOLEX:0004524", source="NCIT:C27729"} ! follicular thyroid adenoma
property_value: closeMatch http://identifiers.org/snomedct/128892009
property_value: exactMatch DOID:8292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266046
property_value: exactMatch NCIT:C27729

[Term]
id: MONDO:0004525
name: scabies
def: "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." [NCIT:P378]
synonym: "infestation by Sarcoptes scabiei" EXACT [DOID:8295, MTHICD9_2006:133.0]
synonym: "infestation by Sarcoptes scabiei var hominis" EXACT [DOID:8295]
synonym: "Sarcoptes scabiei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Sarcoptes scabiei disease or disorder" EXACT []
synonym: "Sarcoptes scabiei infectious disease" EXACT []
synonym: "sarcoptic itch" EXACT [DOID:8295]
xref: COHD:140949 {source="MONDO:equivalentTo"}
xref: DOID:8295 {source="MONDO:equivalentTo"}
xref: ICD10:B86 {source="MONDO:equivalentTo", source="DOID:8295"}
xref: ICD9:133.0 {source="MONDO:equivalentTo", source="DOID:8295", source="i2s"}
xref: MESH:D012532 {source="MONDO:equivalentTo", source="DOID:8295", source="MONDO:ontobio"}
xref: NCIT:C34998 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8295"}
xref: SCTID:128869009 {source="MONDO:equivalentTo", source="DOID:8295", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0036262 {source="MONDO:equivalentTo", source="DOID:8295", source="NCIT:C34998"}
is_a: MONDO:0004389 {source="DOID:8295", source="MESH:D012532", source="linkedlifedata"} ! mite infestation
is_a: MONDO:0021201 {source="NCIT:C34998"} ! skin infection
property_value: closeMatch http://identifiers.org/snomedct/154422001
property_value: closeMatch http://identifiers.org/snomedct/187215008
property_value: closeMatch http://identifiers.org/snomedct/266224002
property_value: closeMatch http://identifiers.org/snomedct/67172004
property_value: exactMatch DOID:8295
property_value: exactMatch http://identifiers.org/mesh/D012532
property_value: exactMatch http://identifiers.org/snomedct/128869009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036262
property_value: exactMatch NCIT:C34998

[Term]
id: MONDO:0004526
name: mixed endometrial stromal and smooth muscle tumor
def: "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." [NCIT:C40179]
synonym: "mixed endometrial stromal and smooth muscle neoplasm" EXACT [NCIT:C40178]
synonym: "Stromomyoma" EXACT [DOID:8302, NCIT:C40178]
synonym: "uterine corpus soft tissue neoplasm" EXACT [NCIT:C40179]
xref: DOID:8302 {source="MONDO:equivalentTo"}
xref: NCIT:C40178 {source="DOID:8302", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1513364 {source="DOID:8302", source="MONDO:equivalentTo", source="NCIT:C40178"}
xref: UMLS:C1519865 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! soft tissue neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! corpus uteri neoplasm
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:8302"} ! uterine corpus cancer
property_value: exactMatch DOID:8302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519865
property_value: exactMatch NCIT:C40178

[Term]
id: MONDO:0004527
name: congenital granular cell tumor
def: "An instance of granular cell tumor that is present from birth." [MONDO:patterns/congenital]
synonym: "congenital granular cell tumor" EXACT [MONDO:patterns/congenital]
xref: DOID:8303 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006235 ! granular cell tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:8303"} ! mesenchymal cell neoplasm
property_value: exactMatch DOID:8303

[Term]
id: MONDO:0004528
name: lymph node palisaded myofibroblastoma
def: "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." [NCIT:P378]
synonym: "palisaded lymph node myofibroblastoma" EXACT [NCIT:C6584]
synonym: "palisaded myofibroblastoma of lymph node" EXACT [NCIT:C6584]
synonym: "palisaded myofibroblastoma of the lymph node" EXACT [DOID:8304, NCIT:C6584]
xref: DOID:8304 {source="MONDO:equivalentTo"}
xref: NCIT:C6584 {source="MONDO:kboom-pr-1.00/0.91/26.46", source="DOID:8304", source="MONDO:equivalentTo"}
xref: UMLS:C1335295 {source="NCIT:C6584", source="DOID:8304", source="MONDO:equivalentTo"}
is_a: MONDO:0024339 ! lymph node neoplasm
is_a: MONDO:0040675 ! myofibroblastoma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
relationship: excluded_subClassOf MONDO:0001082 {source="DOID:8304"} ! lymph node cancer
property_value: exactMatch DOID:8304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335295
property_value: exactMatch NCIT:C6584

[Term]
id: MONDO:0004529
name: non-ossifying fibromyxoid tumor
def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." [NCIT:C6583]
synonym: "nonossifying fibromyxoid neoplasm" EXACT [NCIT:C6583]
synonym: "nonossifying fibromyxoid tumor" EXACT [NCIT:C6583]
synonym: "nonossifying fibromyxoma" EXACT [DOID:8305, NCIT:C6583]
xref: DOID:8305 {source="MONDO:equivalentTo"}
xref: NCIT:C6583 {source="DOID:8305", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1335063 {source="DOID:8305", source="NCIT:C6583", source="MONDO:equivalentTo"}
is_a: MONDO:0037745 {source="NCIT:C6583"} ! fibromyxoid tumor
disjoint_from: MONDO:0006330 ! ossifying fibromyxoid tumor
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:8305"} ! mesenchymal cell neoplasm
property_value: exactMatch DOID:8305
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335063
property_value: exactMatch NCIT:C6583

[Term]
id: MONDO:0004530
name: early invasive cervical adenocarcinoma
def: "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent." [NCIT:P378]
synonym: "cervical microinvasive adenocarcinoma" EXACT [NCIT:C36096]
xref: DOID:8307 {source="MONDO:equivalentTo"}
xref: NCIT:C36096 {source="DOID:8307", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1333369 {source="NCIT:C36096", source="DOID:8307", source="MONDO:equivalentTo"}
is_a: MONDO:0005153 {source="DOID:8307", source="MONDOLEX:0004530", source="NCIT:C36096"} ! cervical adenocarcinoma
property_value: exactMatch DOID:8307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333369
property_value: exactMatch NCIT:C36096

[Term]
id: MONDO:0004531
name: sclerosing adenosis of breast
def: "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." [NCIT:P378]
synonym: "breast sclerosing adenosis" EXACT [NCIT:C5205]
synonym: "sclerosing adenosis" EXACT [NCIT:C5205]
synonym: "sclerosing adenosis of the breast" EXACT [NCIT:C5205]
synonym: "sclerosing breast adenosis" EXACT [DOID:8310, NCIT:C5205]
xref: DOID:8310 {source="MONDO:equivalentTo"}
xref: NCIT:C5205 {source="MONDO:kboom-pr-1.00/0.91/28.59", source="MONDO:equivalentTo", source="DOID:8310"}
xref: SCTID:105261000119101 {source="MONDO:equivalentTo", source="DOID:8310", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1335931 {source="MONDO:equivalentTo", source="NCIT:C5205", source="DOID:8310"}
is_a: MONDO:0002585 {source="DOID:8310", source="NCIT:C5205"} ! breast fibrocystic change, proliferative type
is_a: MONDO:0003725 {source="DOID:8310", source="NCIT:C5205"} ! breast adenosis
property_value: exactMatch DOID:8310
property_value: exactMatch http://identifiers.org/snomedct/105261000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335931
property_value: exactMatch NCIT:C5205

[Term]
id: MONDO:0004532
name: auditory system cancer
def: "A malignant neoplasm involving the auditory system" [MONDO:DesignPattern]
synonym: "auditory system cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of auditory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant auditory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of auditory system" EXACT [MONDO:patterns/cancer]
xref: DOID:833 {source="MONDO:equivalentTo"}
is_a: MONDO:0000649 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer
is_a: MONDO:0002409 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! auditory system disease
property_value: closeMatch http://identifiers.org/snomedct/363228008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013449
property_value: exactMatch DOID:833

[Term]
id: MONDO:0004533
name: perineural angioma
def: "A hemangioma arising from perineural tissues." [NCIT:P378]
synonym: "perineural hemangioma" EXACT [NCIT:C6526]
xref: DOID:8331 {source="MONDO:equivalentTo"}
xref: NCIT:C6526 {source="MONDO:equivalentTo", source="DOID:8331", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335382 {source="MONDO:equivalentTo", source="NCIT:C6526", source="DOID:8331"}
is_a: MONDO:0003096 {source="DOID:8331", source="NCIT:C6526"} ! deep hemangioma
property_value: exactMatch DOID:8331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335382
property_value: exactMatch NCIT:C6526

[Term]
id: MONDO:0004534
name: microglandular adenosis of breast
def: "A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia." [NCIT:P378]
synonym: "breast microglandular adenosis" EXACT [NCIT:C5199]
synonym: "microglandular adenosis of the breast" EXACT [NCIT:C5199]
xref: DOID:8335 {source="MONDO:equivalentTo"}
xref: NCIT:C5199 {source="DOID:8335", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1334753 {source="DOID:8335", source="NCIT:C5199", source="MONDO:equivalentTo"}
is_a: MONDO:0003725 {source="DOID:8335", source="MONDO:Redundant", source="NCIT:C5199"} ! breast adenosis
property_value: exactMatch DOID:8335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334753
property_value: exactMatch NCIT:C5199

[Term]
id: MONDO:0004535
name: childhood choriocarcinoma of the ovary
def: "A non-gestational choriocarcinoma that arises from the ovary and occurs in children." [NCIT:P378]
synonym: "childhood choriocarcinoma of ovary" EXACT [NCIT:C6549]
synonym: "childhood ovarian choriocarcinoma" EXACT [NCIT:C6549]
synonym: "choriocarcinoma of ovary of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choriocarcinoma of ovary" EXACT [DOID:8336, MONDO:patterns/childhood, NCIT:C6549]
synonym: "pediatric choriocarcinoma of ovary" RELATED [MONDO:patterns/childhood]
synonym: "pediatric choriocarcinoma of the ovary" EXACT [NCIT:C6549]
synonym: "pediatric ovarian choriocarcinoma" EXACT [NCIT:C6549]
xref: DOID:8336 {source="MONDO:equivalentTo"}
xref: NCIT:C6549 {source="DOID:8336", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332987 {source="DOID:8336", source="MONDO:equivalentTo", source="NCIT:C6549"}
is_a: MONDO:0003760 ! pediatric ovarian germ cell tumor
is_a: MONDO:0004322 {source="NCIT:C6549"} ! non-gestational ovarian choriocarcinoma
is_a: MONDO:0004479 ! malignant childhood germ cell neoplasm
is_a: MONDO:0020577 ! childhood gonadal germ cell tumor
property_value: exactMatch DOID:8336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332987
property_value: exactMatch NCIT:C6549

[Term]
id: MONDO:0004536
name: obsolete villoglandular variant cervical mucinous adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006141

[Term]
id: MONDO:0004537
name: intestinal variant cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma." [NCIT:P378]
synonym: "cervical mucinous adenocarcinoma, intestinal variant" EXACT [NCIT:C40203]
synonym: "cervical mucinous adenocarcinoma, intestinal-type" EXACT [NCIT:C40203]
synonym: "intestinal type mucinous carcinoma" RELATED [ONCOTREE:ICEMU]
xref: DOID:8339 {source="MONDO:equivalentTo"}
xref: NCIT:C40203 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="DOID:8339", source="MONDO:equivalentTo"}
xref: ONCOTREE:ICEMU {source="MONDO:equivalentTo"}
xref: UMLS:C1516422 {source="DOID:8339", source="MONDO:equivalentTo", source="NCIT:C40203"}
is_a: MONDO:0002742 {source="DOID:8339", source="MONDOLEX:0004537", source="NCIT:C40203"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0006254 {source="NCIT:C40203"} ! intestinal type adenocarcinoma
property_value: exactMatch DOID:8339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516422
property_value: exactMatch NCIT:C40203

[Term]
id: MONDO:0004538
name: endocervical type cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." [NCIT:P378]
synonym: "cervical adenocarcinoma, endocervical type" EXACT [NCIT:C40202]
synonym: "cervical mucinous adenocarcinoma, endocervical type" EXACT [NCIT:C40202]
xref: DOID:8340 {source="MONDO:equivalentTo"}
xref: NCIT:C40202 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo", source="DOID:8340"}
xref: UMLS:C1516421 {source="MONDO:equivalentTo", source="DOID:8340", source="NCIT:C40202"}
is_a: MONDO:0002742 {source="DOID:8340", source="MONDOLEX:0004538", source="NCIT:C40202"} ! cervical mucinous adenocarcinoma
property_value: exactMatch DOID:8340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516421
property_value: exactMatch NCIT:C40202

[Term]
id: MONDO:0004539
name: aortic malignant tumor
def: "A cancer that involves the aorta." [MONDO:patterns/location]
synonym: "aorta cancer" EXACT []
synonym: "aortic malignant neoplasm" EXACT [DOID:8352]
synonym: "cancer of aorta" EXACT [MONDO:patterns/cancer]
synonym: "malignant aorta neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant aortic neoplasm" EXACT [NCIT:C5375]
synonym: "malignant neoplasm of aorta" EXACT [MONDO:patterns/cancer, NCIT:C5375]
synonym: "malignant neoplasm of the aorta" EXACT [NCIT:C5375]
synonym: "malignant tumor of aorta" EXACT [NCIT:C5375]
synonym: "malignant tumor of the aorta" EXACT [NCIT:C5375]
xref: DOID:8352 {source="MONDO:equivalentTo"}
xref: NCIT:C5375 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8352"}
xref: UMLS:C1334560 {source="NCIT:C5375", source="MONDO:equivalentTo", source="DOID:8352"}
is_a: MONDO:0005561 ! aortic disease
is_a: MONDO:0040676 ! great vessel cancer
relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8352"} ! vascular cancer
property_value: exactMatch DOID:8352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334560
property_value: exactMatch NCIT:C5375

[Term]
id: MONDO:0004540
name: epithelioid malignant peripheral nerve sheath tumor
def: "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." [NCIT:C6561]
synonym: "epithelioid malignant peripheral nerve sheath tumor" EXACT [NCIT:C6561]
synonym: "epithelioid MPNST" EXACT [DOID:8353, NCIT:C6561]
synonym: "malignant epithelioid neoplasm of peripheral nerve sheath" EXACT [NCIT:C6561]
synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT [DOID:8353, NCIT:C6561]
synonym: "malignant epithelioid peripheral nerve sheath neoplasm" EXACT [NCIT:C6561]
synonym: "malignant epithelioid peripheral nerve sheath tumor" EXACT [NCIT:C6561]
synonym: "malignant epithelioid tumor of peripheral nerve sheath" EXACT [NCIT:C6561]
synonym: "malignant epithelioid tumor of the peripheral nerve sheath" EXACT [NCIT:C6561]
xref: DOID:8353 {source="MONDO:equivalentTo"}
xref: EFO:1000245 {source="MONDO:equivalentTo"}
xref: NCIT:C6561 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:8353"}
xref: SCTID:404038007 {source="MONDO:equivalentTo", source="DOID:8353"}
xref: UMLS:C1321427 {source="NCIT:C6561", source="MONDO:equivalentTo", source="DOID:8353"}
is_a: MONDO:0017827 {source="DOID:8353", source="MONDOLEX:0004540", source="NCIT:C6561", source="linkedlifedata"} ! malignant peripheral nerve sheath tumor
property_value: closeMatch http://identifiers.org/snomedct/19897006
property_value: closeMatch http://identifiers.org/snomedct/253093000
property_value: exactMatch DOID:8353
property_value: exactMatch http://identifiers.org/snomedct/404038007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321427
property_value: exactMatch NCIT:C6561

[Term]
id: MONDO:0004541
name: pseudoglandular variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes." [NCIT:P378]
synonym: "testicular seminoma, pseudoglandular variant" EXACT [NCIT:C40958]
xref: DOID:8358 {source="MONDO:equivalentTo"}
xref: NCIT:C40958 {source="DOID:8358", source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1515293 {source="DOID:8358", source="MONDO:equivalentTo", source="NCIT:C40958"}
is_a: MONDO:0003669 {source="DOID:8358", source="MONDOLEX:0004541", source="NCIT:C40958"} ! testicular seminoma
property_value: exactMatch DOID:8358
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515293
property_value: exactMatch NCIT:C40958

[Term]
id: MONDO:0004542
name: cervical adenosquamous carcinoma, glassy cell variant
def: "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." [NCIT:C40212]
subset: gard_rare
subset: ordo_disease {source="Orphanet:213833"}
synonym: "cervical adenosquamous carcinoma, glassy cell variant" EXACT [NCIT:C40212]
synonym: "GCC of the cervix" RELATED [GARD:0008437]
synonym: "glassy cell adenocarcinoma of the uterine cervix" RELATED [GARD:0008437, MESH:C536823]
synonym: "glassy cell carcinoma of the cervix" RELATED [GARD:0008437]
synonym: "glassy cell carcinoma of the cervix uteri" RELATED [Orphanet:213833]
synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [DOID:8361]
xref: DOID:8361 {source="MONDO:equivalentTo"}
xref: GARD:0008437 {source="MONDO:equivalentTo"}
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213833/btnt", source="Orphanet:213833"}
xref: ICD10:C53.1 {source="ORDO:213833/btnt", source="Orphanet:213833"}
xref: ICD10:C53.8 {source="ORDO:213833/btnt", source="Orphanet:213833"}
xref: MESH:C536823 {source="MONDO:equivalentTo"}
xref: NCIT:C40212 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo", source="DOID:8361"}
xref: ONCOTREE:CEGCC {source="MONDO:equivalentTo"}
xref: Orphanet:213833 {source="MONDO:equivalentTo"}
is_a: MONDO:0006134 {source="DOID:8361", source="MONDOLEX:0004542", source="NCIT:C40212"} ! cervical adenosquamous carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516407
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2012072
property_value: exactMatch DOID:8361
property_value: exactMatch http://identifiers.org/mesh/C536823
property_value: exactMatch NCIT:C40212
property_value: exactMatch Orphanet:213833
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix xsd:anyURI {source="GARD:0008437"}

[Term]
id: MONDO:0004543
name: enteric pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands." [NCIT:P378]
synonym: "testicular yolk Sac tumor, enteric pattern" EXACT [NCIT:C39932]
xref: DOID:8362 {source="MONDO:equivalentTo"}
xref: NCIT:C39932 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:8362"}
xref: UMLS:C1515304 {source="MONDO:equivalentTo", source="NCIT:C39932", source="DOID:8362"}
is_a: MONDO:0003402 {source="DOID:8362", source="MONDOLEX:0004543", source="NCIT:C39932"} ! testicular yolk sac tumor
property_value: exactMatch DOID:8362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515304
property_value: exactMatch NCIT:C39932

[Term]
id: MONDO:0004544
name: chordoid meningioma
def: "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." [NCIT:C6908]
synonym: "CHOM" RELATED [ONCOTREE:CHOM]
synonym: "chordoid meningioma" EXACT [DOID:8368, NCIT:C6908]
synonym: "meningioma, chordoid" EXACT [DOID:8368]
synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [DOID:8368]
xref: DOID:8368 {source="MONDO:equivalentTo"}
xref: EFO:1000176 {source="MONDO:equivalentTo"}
xref: NCIT:C6908 {source="DOID:8368", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CHOM {source="MONDO:equivalentTo"}
xref: UMLS:C1370510 {source="DOID:8368", source="NCIT:C6908", source="MONDO:equivalentTo"}
is_a: MONDO:0045056 {source="NCIT:C6908"} ! grade II meningioma
relationship: excluded_subClassOf MONDO:0002918 {source="DOID:8368"} ! clear cell meningioma
property_value: closeMatch http://identifiers.org/snomedct/399709001
property_value: closeMatch http://identifiers.org/snomedct/57606003
property_value: exactMatch DOID:8368
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370510
property_value: exactMatch NCIT:C6908

[Term]
id: MONDO:0004545
name: adult malignant schwannoma
def: "A malignant peripheral nerve sheath tumor occurring during adulthood." [NCIT:P378]
synonym: "adult childhood malignant schwannoma" EXACT [MONDO:design_pattern]
synonym: "adult malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant neurilemmoma" EXACT [NCIT:C7814]
synonym: "adult malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C7814]
synonym: "adult malignant peripheral nerve sheath tumor" EXACT [NCIT:C7814]
synonym: "adult malignant schwannoma" EXACT [NCIT:C7814]
synonym: "adult malignant tumor of peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult MPNST" EXACT [DOID:8369, NCIT:C7814]
synonym: "childhood malignant schwannoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C7814]
xref: DOID:8369 {source="MONDO:equivalentTo"}
xref: NCIT:C7814 {source="DOID:8369", source="MONDO:kboom-pr-0.96/0.68/2.71", source="MONDO:equivalentTo"}
xref: UMLS:C0278622 {source="DOID:8369", source="MONDO:equivalentTo", source="NCIT:C7814"}
is_a: MONDO:0004345 ! childhood malignant schwannoma
property_value: exactMatch DOID:8369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278622
property_value: exactMatch NCIT:C7814

[Term]
id: MONDO:0004546
name: lumbar plexus neoplasm
def: "A neoplasm (disease) that involves the lumbar nerve plexus." [MONDO:patterns/location]
synonym: "lumbar nerve plexus neoplasm" EXACT []
synonym: "lumbar nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lumbar nerve plexus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "lumbar plexus neoplasms" EXACT [NCIT:C5824]
synonym: "lumbar plexus tumor" EXACT [NCIT:C5824]
synonym: "neoplasm of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of lumbar plexus" EXACT [NCIT:C5824]
synonym: "neoplasm of the lumbar plexus" EXACT [NCIT:C5824]
synonym: "tumor of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lumbar plexus" EXACT [DOID:8389, NCIT:C5824]
synonym: "tumor of the lumbar plexus" EXACT [NCIT:C5824]
xref: DOID:8389 {source="MONDO:equivalentTo"}
xref: NCIT:C5824 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:8389"}
xref: UMLS:C1334437 {source="MONDO:equivalentTo", source="NCIT:C5824", source="DOID:8389"}
is_a: MONDO:0001829 ! lumbosacral plexus lesion
is_a: MONDO:0003100 {source="DOID:8389", source="MONDO:Redundant", source="NCIT:C5824"} ! nerve plexus neoplasm
property_value: exactMatch DOID:8389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334437
property_value: exactMatch NCIT:C5824

[Term]
id: MONDO:0004547
name: reticular pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance." [NCIT:P378]
synonym: "testicular yolk Sac tumor, microcystic pattern" EXACT [NCIT:C39923]
synonym: "testicular yolk Sac tumor, reticular pattern" EXACT [NCIT:C39923]
xref: DOID:8392 {source="MONDO:equivalentTo"}
xref: NCIT:C39923 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="DOID:8392", source="MONDO:equivalentTo"}
xref: UMLS:C1515308 {source="DOID:8392", source="MONDO:equivalentTo", source="NCIT:C39923"}
is_a: MONDO:0003402 {source="DOID:8392", source="MONDOLEX:0004547", source="NCIT:C39923"} ! testicular yolk sac tumor
property_value: exactMatch DOID:8392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515308
property_value: exactMatch NCIT:C39923

[Term]
id: MONDO:0004548
name: adult type testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." [NCIT:P378]
synonym: "adult testicular granulosa cell tumor" EXACT []
synonym: "adult type testicular granulosa cell tumor" EXACT [NCIT:C39946]
xref: DOID:8394 {source="MONDO:equivalentTo"}
xref: NCIT:C39946 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:8394"}
xref: UMLS:C1515284 {source="MONDO:equivalentTo", source="DOID:8394", source="NCIT:C39946"}
is_a: MONDO:0003395 {source="DOID:8394", source="MONDOLEX:0004548", source="NCIT:C39946"} ! testicular granulosa cell tumor
property_value: exactMatch DOID:8394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515284
property_value: exactMatch NCIT:C39946

[Term]
id: MONDO:0004549
name: cork-handlers' disease
def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." [DOID:840, http://chestjournal.chestpubs.org/content/124/3/1145.full.pdf, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf]
synonym: "cork-handlers' disease or lung" EXACT [DOID:840]
synonym: "cork-handlers' lung" EXACT [DOID:840]
synonym: "Suberosis" EXACT [DOID:840, ICD9CM_2006:495.3]
xref: COHD:443890 {source="MONDO:equivalentTo"}
xref: DOID:840 {source="MONDO:equivalentTo"}
xref: ICD10:J67.3 {source="DOID:840"}
xref: ICD9:495.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:840"}
xref: SCTID:13394002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72", source="DOID:840"}
xref: UMLS:C0152108 {source="MONDO:equivalentTo", source="DOID:840"}
is_a: MONDO:0004553 {source="DOID:840"} ! extrinsic allergic alveolitis
property_value: exactMatch DOID:840
property_value: exactMatch http://identifiers.org/snomedct/13394002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152108

[Term]
id: MONDO:0004550
name: malignant cornea melanoma
def: "A melanoma within the cornea of the eye." [NCIT:P378]
synonym: "cornea melanoma" EXACT [NCIT:C4553]
synonym: "cornea melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "corneal melanoma" EXACT [NCIT:C4553]
synonym: "malignant cornea melanoma" EXACT [NCIT:C4553]
synonym: "malignant corneal melanoma" EXACT [DOID:8400, NCIT:C4553]
synonym: "malignant melanoma of cornea" EXACT [NCIT:C4553]
synonym: "malignant melanoma of the cornea" EXACT [NCIT:C4553]
synonym: "melanoma (disease) of cornea" EXACT []
synonym: "melanoma of cornea" EXACT [NCIT:C4553]
synonym: "melanoma of the cornea" EXACT [NCIT:C4553]
xref: DOID:8400 {source="MONDO:equivalentTo"}
xref: NCIT:C4553 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:8400", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346367 {source="MONDO:equivalentTo", source="NCIT:C4553", source="DOID:8400"}
is_a: MONDO:0003802 {source="DOID:8400", source="MONDO:Redundant", source="NCIT:C4553"} ! cornea cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4553"} ! ocular melanoma
property_value: closeMatch http://identifiers.org/snomedct/255009006
property_value: exactMatch DOID:8400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346367
property_value: exactMatch NCIT:C4553

[Term]
id: MONDO:0004551
name: Meckel diverticulitis
def: "Inflammation of a congenital diverticulum of the lower intestine." [NCIT:P378]
synonym: "inflammation of Meckel's diverticulum" EXACT []
synonym: "Meckel diverticulitis" EXACT [DOID:8408, NCIT:C27300]
synonym: "Meckel's diverticulitis" RELATED [NCIT:C27300]
synonym: "Meckel's diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:8408 {source="MONDO:equivalentTo"}
xref: NCIT:C27300 {source="DOID:8408", source="MONDO:equivalentTo"}
xref: SCTID:48241004 {source="DOID:8408", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267497 {source="NCIT:C27300", source="DOID:8408", source="MONDO:equivalentTo"}
is_a: MONDO:0001229 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine diverticulitis
is_a: MONDO:0043579 ! enteritis
property_value: exactMatch DOID:8408
property_value: exactMatch http://identifiers.org/snomedct/48241004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267497
property_value: exactMatch NCIT:C27300

[Term]
id: MONDO:0004552
name: microinvasive cervical squamous cell carcinoma
def: "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low." [NCIT:P378]
synonym: "early invasive cervical squamous cell carcinoma" EXACT [NCIT:C36094]
xref: DOID:8409 {source="MONDO:equivalentTo"}
xref: NCIT:C36094 {source="MONDO:equivalentTo", source="DOID:8409", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333370 {source="MONDO:equivalentTo", source="DOID:8409", source="NCIT:C36094"}
is_a: MONDO:0006143 {source="DOID:8409", source="MONDOLEX:0004552", source="NCIT:C36094"} ! cervical squamous cell carcinoma
property_value: exactMatch DOID:8409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333370
property_value: exactMatch NCIT:C36094

[Term]
id: MONDO:0004553
name: extrinsic allergic alveolitis
def: "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." [NCIT:C34369]
synonym: "allergic form of pneumonitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic pneumonitis" EXACT [NCIT:C34369]
synonym: "alveolitis" EXACT [DOID:841]
synonym: "extrinsic allergic alveolitis" EXACT [NCIT:C34369]
synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, NCIT:C34369]
xref: COHD:444084 {source="MONDO:equivalentTo"}
xref: DOID:841 {source="MONDO:equivalentTo"}
xref: ICD10:J67.9 {source="DOID:841"}
xref: ICD9:495 {source="DOID:841"}
xref: ICD9:495.9 {source="DOID:841", source="MONDO:relatedTo"}
xref: MESH:D000542 {source="DOID:841", source="MONDO:equivalentTo"}
xref: NCIT:C34369 {source="DOID:841", source="MONDO:equivalentTo"}
is_a: MONDO:0000771 ! allergic respiratory disease
is_a: MONDO:0015925 {source="DOID:841", source="MESH:D000542"} ! interstitial lung disease
is_a: MONDO:0043905 ! pneumonitis
property_value: closeMatch http://identifiers.org/snomedct/155581001
property_value: closeMatch http://identifiers.org/snomedct/195993008
property_value: closeMatch http://identifiers.org/snomedct/195994002
property_value: closeMatch http://identifiers.org/snomedct/266399001
property_value: exactMatch DOID:841
property_value: exactMatch http://identifiers.org/mesh/D000542
property_value: exactMatch NCIT:C34369

[Term]
id: MONDO:0004554
name: childhood kidney angiomyolipoma
def: "An angiomyolipoma occurring in childhood." [NCIT:P378]
synonym: "childhood renal angiomyolipoma" EXACT [NCIT:C6565]
synonym: "kidney angiomyolipoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric kidney angiomyolipoma" EXACT [MONDO:patterns/childhood, NCIT:C6565]
synonym: "pediatric kidney angiomyolipoma" RELATED [MONDO:patterns/childhood]
synonym: "pediatric renal angiomyolipoma" EXACT [DOID:8410, NCIT:C6565]
xref: DOID:8410 {source="MONDO:equivalentTo"}
xref: NCIT:C6565 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8410"}
xref: UMLS:C1333000 {source="MONDO:equivalentTo", source="NCIT:C6565", source="DOID:8410"}
is_a: MONDO:0002730 ! childhood kidney neoplasm
is_a: MONDO:0004555 {source="DOID:8410", source="MONDO:Redundant", source="MONDOLEX:0004554", source="NCIT:C6565"} ! kidney angiomyolipoma
property_value: exactMatch DOID:8410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333000
property_value: exactMatch NCIT:C6565

[Term]
id: MONDO:0004555
name: kidney angiomyolipoma
def: "An angiomyolipoma arising from the kidney." [NCIT:P378]
synonym: "angiomyolipoma of kidney" EXACT [NCIT:C3888]
synonym: "angiomyolipoma of the kidney" EXACT [NCIT:C3888]
synonym: "kidney angiomyolipoma" EXACT [MONDO:patterns/location]
synonym: "RAML" RELATED [ONCOTREE:RAML]
synonym: "renal angiomyolipoma" EXACT [DOID:8411, NCIT:C3888]
xref: DOID:8411 {source="MONDO:equivalentTo"}
xref: EFO:1000312 {source="MONDO:equivalentTo"}
xref: NCIT:C3888 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8411"}
xref: ONCOTREE:RAML {source="MONDO:equivalentTo"}
xref: SCTID:254921004 {source="MONDO:equivalentTo", source="DOID:8411", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0241961 {source="MONDO:equivalentTo", source="NCIT:C3888", source="DOID:8411"}
is_a: MONDO:0002513 {source="DOID:8411", source="linkedlifedata"} ! kidney benign neoplasm
is_a: MONDO:0002603 {source="DOID:8411", source="MONDO:Redundant", source="NCIT:C3888"} ! angiomyolipoma
is_a: MONDO:0020581 ! benign PEComa
property_value: exactMatch DOID:8411
property_value: exactMatch http://identifiers.org/snomedct/254921004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241961
property_value: exactMatch NCIT:C3888

[Term]
id: MONDO:0004556
name: carcinoma arising in nasal papillomatosis
def: "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." [NCIT:C27389]
synonym: "carcinoma arising in nasal papillomatosis" EXACT [NCIT:C27389]
xref: DOID:8415 {source="MONDO:equivalentTo"}
xref: NCIT:C27389 {source="DOID:8415", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332840 {source="DOID:8415", source="NCIT:C27389", source="MONDO:equivalentTo"}
is_a: MONDO:0003212 {source="DOID:8415", source="NCIT:C27389"} ! nasal cavity carcinoma
property_value: exactMatch DOID:8415
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332840
property_value: exactMatch NCIT:C27389

[Term]
id: MONDO:0004557
name: congenital fibrosarcoma
def: "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." [NCIT:P378]
synonym: "congenital fibrosarcoma" EXACT [NCIT:C4244]
synonym: "IFS" RELATED [ONCOTREE:IFS]
synonym: "infantile fibrosarcoma" EXACT [NCIT:C4244]
synonym: "infantile fibrosarcoma (congenital fibrosarcoma)" EXACT [NCIT:C4244]
synonym: "infantile fibrosarcoma (morphologic abnormality)" EXACT [DOID:8418]
xref: DOID:8418 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8814/3 {source="NCIT:C4244"}
xref: NCIT:C4244 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8418"}
xref: ONCOTREE:IFS {source="MONDO:equivalentTo"}
xref: SCTID:403996004 {source="MONDO:equivalentTo", source="DOID:8418", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334459 {source="MONDO:equivalentTo", source="DOID:8418", source="NCIT:C4244"}
is_a: MONDO:0002678 {source="DOID:8418", source="NCIT:C4244"} ! pediatric fibrosarcoma
property_value: closeMatch http://identifiers.org/snomedct/52040006
property_value: exactMatch DOID:8418
property_value: exactMatch http://identifiers.org/snomedct/403996004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334459
property_value: exactMatch NCIT:C4244

[Term]
id: MONDO:0004558
name: thyroid gland macrofollicular adenoma
def: "A thyroid gland adenoma composed of large size follicles." [NCIT:P378]
synonym: "colloid adenoma" RELATED [DOID:8419]
synonym: "macrofollicular adenoma" EXACT [NCIT:C4161]
synonym: "macrofollicular adenoma (morphologic abnormality)" EXACT [DOID:8419]
xref: DOID:8419 {source="MONDO:equivalentTo"}
xref: ICDO:8334/0 {source="NCIT:C4161"}
xref: NCIT:C4161 {source="DOID:8419", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334329 {source="NCIT:C4161", source="DOID:8419", source="MONDO:equivalentTo"}
is_a: MONDO:0005032 {source="DOID:8419", source="MONDOLEX:0004558", source="NCIT:C4161"} ! follicular thyroid adenoma
property_value: closeMatch http://identifiers.org/snomedct/26545006
property_value: exactMatch DOID:8419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334329
property_value: exactMatch NCIT:C4161

[Term]
id: MONDO:0004559
name: malignant glandular tumor of peripheral nerve sheath
def: "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium." [NCIT:P378]
synonym: "glandular malignant peripheral nerve sheath tumor" EXACT [NCIT:C6560]
synonym: "glandular MPNST" EXACT [DOID:8420, NCIT:C6560]
synonym: "malignant glandular neoplasm of peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular neoplasm of the peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular peripheral nerve sheath neoplasm" EXACT [NCIT:C6560]
synonym: "malignant glandular peripheral nerve sheath tumor" EXACT [NCIT:C6560]
synonym: "malignant glandular schwannoma" EXACT [NCIT:C6560]
synonym: "malignant glandular tumor of peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular tumor of the peripheral nerve sheath" EXACT [NCIT:C6560]
xref: DOID:8420 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6560 {source="MONDO:equivalentTo", source="DOID:8420", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:699659007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54", source="DOID:8420"}
xref: UMLS:C1333821 {source="NCIT:C6560", source="MONDO:equivalentTo", source="DOID:8420"}
is_a: MONDO:0017827 {source="DOID:8420", source="MONDOLEX:0004559", source="NCIT:C6560", source="linkedlifedata"} ! malignant peripheral nerve sheath tumor
property_value: closeMatch http://identifiers.org/snomedct/699658004
property_value: exactMatch DOID:8420
property_value: exactMatch http://identifiers.org/snomedct/699659007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333821
property_value: exactMatch NCIT:C6560

[Term]
id: MONDO:0004560
name: follicular infundibulum tumor
synonym: "basal cell hamartoma with follicular differentiation" EXACT [NCIT:C4469]
synonym: "follicular infundibulum neoplasm" EXACT [NCIT:C4469]
synonym: "neoplasm of the follicular infundibulum" EXACT [DOID:8426, NCIT:C4469]
synonym: "tumor of follicular infundibulum" EXACT [DOID:8426]
synonym: "tumor of the follicular infundibulum" EXACT [NCIT:C4469]
xref: DOID:8426 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4469 {source="DOID:8426", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:254694002 {source="DOID:8426", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346006 {source="DOID:8426", source="MONDO:equivalentTo", source="NCIT:C4469"}
is_a: MONDO:0003413 {source="DOID:8426", source="NCIT:C4469/inferred"} ! hair follicle neoplasm
property_value: exactMatch DOID:8426
property_value: exactMatch http://identifiers.org/snomedct/254694002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346006
property_value: exactMatch NCIT:C4469

[Term]
id: MONDO:0004561
name: retinal melanoma
def: "A melanoma affecting the retinal portion of the eye. --2003" [NCIT:C8601]
synonym: "malignant melanoma of retina" EXACT [NCIT:C8601]
synonym: "malignant melanoma of the retina" EXACT [NCIT:C8601]
synonym: "malignant retinal melanoma" EXACT [DOID:8427, NCIT:C8601]
synonym: "melanoma (disease) of retina" EXACT []
synonym: "melanoma of retina" EXACT [NCIT:C8601]
synonym: "melanoma of the retina" EXACT [NCIT:C8601]
synonym: "retina melanoma" EXACT []
synonym: "retina melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "retinal melanoma" EXACT [NCIT:C8601]
xref: DOID:8427 {source="MONDO:equivalentTo"}
xref: NCIT:C8601 {source="DesignPattern", source="DOID:8427", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:423673009 {source="DesignPattern", source="MONDO:kboom-pr-1.00/0.80/9.28", source="DOID:8427", source="MONDO:equivalentTo"}
xref: UMLS:C0853394 {source="DOID:8427", source="MONDO:equivalentTo", source="NCIT:C8601"}
is_a: MONDO:0003072 {source="DOID:8427", source="MONDO:Redundant", source="NCIT:C8601", source="linkedlifedata"} ! retinal cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C8601"} ! ocular melanoma
property_value: exactMatch DOID:8427
property_value: exactMatch http://identifiers.org/snomedct/423673009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853394
property_value: exactMatch NCIT:C8601

[Term]
id: MONDO:0004562
name: breast apocrine carcinoma in situ
def: "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation." [NCIT:P378]
synonym: "apocrine breast carcinoma in situ" EXACT [NCIT:C5140]
synonym: "apocrine carcinoma in situ of breast" EXACT [NCIT:C5140]
synonym: "apocrine carcinoma in situ of the breast" EXACT [DOID:8428, NCIT:C5140]
xref: DOID:8428 {source="MONDO:equivalentTo"}
xref: NCIT:C5140 {source="MONDO:kboom-pr-1.00/0.91/27.57", source="DOID:8428", source="MONDO:equivalentTo"}
xref: UMLS:C1332315 {source="NCIT:C5140", source="DOID:8428", source="MONDO:equivalentTo"}
is_a: MONDO:0004658 {source="DOID:8428", source="MONDOLEX:0004562"} ! breast carcinoma in situ
property_value: exactMatch DOID:8428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332315
property_value: exactMatch NCIT:C5140

[Term]
id: MONDO:0004563
name: physiological polycythemia
def: "Polycythemia that is not pathologic." [NCIT:P378]
xref: DOID:8431 {source="MONDO:equivalentTo"}
xref: NCIT:C27311 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8431"}
xref: UMLS:C0856817 {source="NCIT:C27311", source="MONDO:equivalentTo", source="DOID:8431"}
is_a: MONDO:0005571 {source="DOID:8431", source="NCIT:C27311/inferred"} ! polycythemia (disease)
property_value: exactMatch DOID:8431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856817
property_value: exactMatch NCIT:C27311

[Term]
id: MONDO:0004564
name: thyroid malformation
def: "An anatomic abnormality of the thyroid gland." [NCIT:P378]
synonym: "thyroid gland malformation" EXACT [NCIT:C27331]
xref: DOID:8433 {source="MONDO:equivalentTo"}
xref: NCIT:C27331 {source="MONDO:equivalentTo", source="DOID:8433", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003240 {source="DOID:8433"} ! thyroid gland disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0877367
property_value: exactMatch DOID:8433
property_value: exactMatch NCIT:C27331

[Term]
id: MONDO:0004565
name: intestinal obstruction
def: "Blockage of the normal flow of the intestinal contents within the bowel." [NCIT:P378]
synonym: "bowel obstruction" EXACT [NCIT:C9175]
xref: COHD:193518 {source="MONDO:equivalentTo"}
xref: DOID:8437 {source="MONDO:equivalentTo"}
xref: ICD10:K56.60 {source="DOID:8437"}
xref: ICD10:K56.69 {source="DOID:8437"}
xref: ICD9:560.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:560.9 {source="DOID:8437", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007415 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9175 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy"}
xref: SCTID:81060008 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0021843 {source="DOID:8437", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:8437", source="MESH:D007415", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/155771002
property_value: closeMatch http://identifiers.org/snomedct/155777003
property_value: closeMatch http://identifiers.org/snomedct/197072007
property_value: closeMatch http://identifiers.org/snomedct/197073002
property_value: closeMatch http://identifiers.org/snomedct/197074008
property_value: closeMatch http://identifiers.org/snomedct/197080000
property_value: closeMatch http://identifiers.org/snomedct/266523009
property_value: exactMatch DOID:8437
property_value: exactMatch http://identifiers.org/mesh/D007415
property_value: exactMatch http://identifiers.org/snomedct/81060008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021843
property_value: exactMatch NCIT:C9175

[Term]
id: MONDO:0004566
name: postgastrectomy syndrome
def: "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." [MESH:D011178]
synonym: "postgastric surgery syndrome" EXACT [DOID:8439]
xref: DOID:8439 {source="MONDO:equivalentTo"}
xref: ICD10:K91.1 {source="DOID:8439"}
xref: ICD9:564.2 {source="DOID:8439", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011178 {source="DOID:8439", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:80193009 {source="DOID:8439", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.54"}
xref: UMLS:C0032763 {source="DOID:8439", source="MONDO:equivalentTo"}
is_a: MONDO:0001318 {source="DOID:8439", source="linkedlifedata"} ! functional gastric disease
is_a: MONDO:0005020 {source="DOID:8439"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/155785007
property_value: closeMatch http://identifiers.org/snomedct/197126006
property_value: closeMatch http://identifiers.org/snomedct/197128007
property_value: closeMatch http://identifiers.org/snomedct/197129004
property_value: closeMatch http://identifiers.org/snomedct/266527005
property_value: exactMatch DOID:8439
property_value: exactMatch http://identifiers.org/mesh/D011178
property_value: exactMatch http://identifiers.org/snomedct/80193009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032763

[Term]
id: MONDO:0004567
name: ileus
def: "Decrease in peristalsis in the absence of a mechanical bowel obstruction." [NCIT:P378]
synonym: "ileus of intestine" EXACT [DOID:8440, MTHICD9_2006:560.1]
xref: DOID:8440 {source="MONDO:equivalentTo"}
xref: MESH:D045823 {source="MONDO:equivalentTo", source="DOID:8440", source="MONDO:ontobio"}
xref: NCIT:C37979 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8440"}
xref: SCTID:710572000 {source="MONDO:kboom-pr-1.00/0.75/6.51", source="MONDO:equivalentTo"}
xref: UMLS:C1258215 {source="MONDO:equivalentTo", source="DOID:8440", source="NCIT:C37979"}
is_a: MONDO:0004565 {source="DOID:8440", source="MESH:D045823", source="linkedlifedata"} ! intestinal obstruction
property_value: closeMatch http://identifiers.org/snomedct/278524008
property_value: exactMatch DOID:8440
property_value: exactMatch http://identifiers.org/mesh/D045823
property_value: exactMatch http://identifiers.org/snomedct/710572000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258215
property_value: exactMatch NCIT:C37979

[Term]
id: MONDO:0004568
name: paralytic ileus (disease)
def: "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." [NCIT:P378]
synonym: "paralytic ileus" EXACT [MONDO:ambiguous]
xref: COHD:192357 {source="MONDO:equivalentTo"}
xref: DOID:8442 {source="MONDO:equivalentTo"}
xref: HP:0002590 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K56.0 {source="DOID:8442"}
xref: ICD9:560.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8442"}
xref: NCIT:C93045 {source="MONDO:equivalentTo", source="DOID:8442", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:55525008 {source="MONDO:equivalentTo", source="DOID:8442", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030446 {source="MONDO:equivalentTo", source="DOID:8442", source="NCIT:C93045"}
is_a: MONDO:0004567 {source="NCIT:C93045"} ! ileus
property_value: closeMatch http://identifiers.org/snomedct/155773004
property_value: exactMatch DOID:8442
property_value: exactMatch http://identifiers.org/snomedct/55525008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030446
property_value: exactMatch NCIT:C93045

[Term]
id: MONDO:0004569
name: brachial plexus neuropathy from injury
synonym: "brachial plexus lesion" EXACT [DOID:8443]
synonym: "brachial plexus lesions" EXACT [DOID:8443]
xref: DOID:8443 {source="MONDO:equivalentTo"}
xref: ICD9:353.0 {source="MONDO:subClassOf", source="DOID:8443"}
xref: UMLS:C0006091 {source="MONDO:equivalentTo", source="DOID:8443"}
is_a: MONDO:0006683 {source="DOID:8443", source="MONDO:Redundant"} ! brachial plexus neuropathy
intersection_of: MONDO:0006683 ! brachial plexus neuropathy
intersection_of: disease_arises_from_feature MONDO:0021178 ! injury
relationship: disease_arises_from_feature MONDO:0021178 ! injury
property_value: closeMatch http://identifiers.org/snomedct/193109004
property_value: exactMatch DOID:8443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006091

[Term]
id: MONDO:0004570
name: intestinal volvulus
def: "Twisting of a loop of bowel that results in intestinal obstruction." [NCIT:P378]
synonym: "intestinal volvulus" EXACT [DOID:8445]
synonym: "twist of intestine, bowel, or colon" EXACT [DOID:8445, MTHICD9_2006:560.2]
synonym: "volvulus" EXACT [DOID:8445, ICD9CM_2006:560.2]
xref: COHD:197603 {source="MONDO:equivalentTo"}
xref: DOID:8445 {source="MONDO:equivalentTo"}
xref: EFO:1000989 {source="MONDO:equivalentTo"}
xref: ICD10:K56.2 {source="DOID:8445", source="MONDO:equivalentTo"}
xref: ICD9:560.2 {source="DOID:8445", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D045822 {source="DOID:8445", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:9707006 {source="DOID:8445", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0042961 {source="DOID:8445", source="MONDO:equivalentTo"}
is_a: MONDO:0004565 {source="DOID:8445", source="MESH:D045822", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal obstruction
property_value: closeMatch http://identifiers.org/snomedct/155774005
property_value: closeMatch http://identifiers.org/snomedct/197057008
property_value: closeMatch http://identifiers.org/snomedct/197061002
property_value: closeMatch http://identifiers.org/snomedct/90738007
property_value: exactMatch DOID:8445
property_value: exactMatch http://identifiers.org/mesh/D045822
property_value: exactMatch http://identifiers.org/snomedct/9707006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042961
property_value: exactMatch NCIT:C98963

[Term]
id: MONDO:0004571
name: intestinal impaction
xref: DOID:8448 {source="MONDO:equivalentTo"}
xref: ICD10:K56.4 {source="DOID:8448"}
xref: ICD10:K56.49 {source="DOID:8448"}
xref: ICD9:560.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:560.39 {source="DOID:8448", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:62851005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0004565 {source="DOID:8448"} ! intestinal obstruction
property_value: closeMatch http://identifiers.org/snomedct/197540000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029640
property_value: exactMatch DOID:8448
property_value: exactMatch http://identifiers.org/snomedct/62851005

[Term]
id: MONDO:0004572
name: cyclothymic disorder
def: "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." [MESH:D003527]
synonym: "affective personality disorder" EXACT [DOID:845, ICD9CM_2006:301.1]
synonym: "cycloid personality" EXACT [DOID:845, MTHICD9_2006:301.13]
synonym: "cyclothymia" EXACT [DOID:845]
synonym: "cyclothymic personality" EXACT [DOID:845]
xref: COHD:440696 {source="MONDO:equivalentTo"}
xref: DOID:845 {source="MONDO:equivalentTo"}
xref: ICD10:F34.0 {source="DOID:845", source="MONDO:equivalentTo"}
xref: ICD9:301.1 {source="DOID:845"}
xref: ICD9:301.10 {source="DOID:845", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:301.13 {source="DOID:845", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003527 {source="DOID:845", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:76105009 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="DOID:845", source="MONDO:equivalentTo"}
is_a: MONDO:0005371 {source="DOID:845/inferred", source="ICD10:F34.0/inferred", source="MESH:D003527", source="linkedlifedata"} ! mood disorder
relationship: excluded_subClassOf MONDO:0004985 {source="DOID:845"} ! bipolar disorder
property_value: closeMatch http://identifiers.org/snomedct/14697007
property_value: closeMatch http://identifiers.org/snomedct/191751008
property_value: closeMatch http://identifiers.org/snomedct/191752001
property_value: closeMatch http://identifiers.org/snomedct/191754000
property_value: closeMatch http://identifiers.org/snomedct/191755004
property_value: closeMatch http://identifiers.org/snomedct/192383002
property_value: closeMatch http://identifiers.org/snomedct/268756002
property_value: closeMatch http://identifiers.org/snomedct/286737005
property_value: closeMatch http://identifiers.org/snomedct/386798001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010598
property_value: exactMatch DOID:845
property_value: exactMatch http://identifiers.org/mesh/D003527
property_value: exactMatch http://identifiers.org/snomedct/76105009

[Term]
id: MONDO:0004573
name: ariboflavinosis
def: "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" [MESH:D012257]
synonym: "vitamin B2 deficiency" EXACT [DOID:8454, MTHICD9_2006:266.0]
xref: COHD:432580 {source="MONDO:equivalentTo"}
xref: DOID:8454 {source="MONDO:equivalentTo"}
xref: ICD10:E53.0 {source="DOID:8454"}
xref: ICD9:266.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8454"}
xref: SCTID:20307000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95", source="DOID:8454"}
is_a: MONDO:0006873 {source="DOID:8454", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/mesh/D012257
property_value: closeMatch http://identifiers.org/snomedct/154726004
property_value: closeMatch http://identifiers.org/snomedct/267492001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035528
property_value: exactMatch DOID:8454
property_value: exactMatch http://identifiers.org/snomedct/20307000

[Term]
id: MONDO:0004574
name: pyridoxine deficiency anemia
def: "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." [NCIT:P378]
subset: gard_rare
synonym: "B6 deficiencies, vitamin" RELATED [MESH:D026681]
synonym: "B6 deficiency, vitamin" RELATED [MESH:D026681]
synonym: "B6 vitamin deficiencies" RELATED [MESH:D026681]
synonym: "B6 vitamin deficiency" RELATED [MESH:D026681]
synonym: "deficiencies, B6 vitamin" RELATED [MESH:D026681]
synonym: "deficiencies, vitamin B6" RELATED [MESH:D026681]
synonym: "deficiency, B6 vitamin" RELATED [MESH:D026681]
synonym: "deficiency, pyridoxine" RELATED [MESH:D026681]
synonym: "deficiency, vitamin B 6" RELATED [MESH:D026681]
synonym: "deficiency, vitamin B6" RELATED [MESH:D026681]
synonym: "pyridoxine deficiency" RELATED [MESH:D026681]
synonym: "pyridoxine Deficincy" EXACT [NCIT:C85221]
synonym: "vitamin B6 deficiencies" RELATED [MESH:D026681]
synonym: "vitamin B6 deficiency" RELATED [GARD:0004616, MESH:D026681]
synonym: "vitamin B6 deficiency syndrome" EXACT [DOID:8455, MTHICD9_2006:266.1]
synonym: "vitamin deficiencies, B6" RELATED [MESH:D026681]
synonym: "vitamin deficiency, B6" RELATED [GARD:0004616, MESH:D026681]
xref: DOID:8455 {source="MONDO:equivalentTo"}
xref: GARD:0004616 {source="MONDO:equivalentTo"}
xref: ICD10:E53.1 {source="DOID:8455"}
xref: ICD9:266.1 {source="DOID:8455"}
xref: ICD9:281.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D026681 {source="MONDO:equivalentTo", source="DOID:8455"}
xref: NCIT:C85221 {source="MONDO:equivalentTo", source="DOID:8455"}
xref: SCTID:86448001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
is_a: MONDO:0042976 {source="MESH:D026681", source="MONDOLEX:0004574", source="NCIT:C85221"} ! vitamin B deficiency
property_value: closeMatch http://identifiers.org/snomedct/18881008
property_value: closeMatch http://identifiers.org/snomedct/386080007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0936215
property_value: exactMatch DOID:8455
property_value: exactMatch http://identifiers.org/mesh/D026681
property_value: exactMatch http://identifiers.org/snomedct/86448001
property_value: exactMatch NCIT:C85221

[Term]
id: MONDO:0004575
name: choline deficiency disease
def: "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)" [MESH:D002796]
synonym: "choline deficiency" EXACT [CSP2005:2116-7256, DOID:8456]
xref: DOID:8456 {source="MONDO:equivalentTo"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002796 {source="DOID:8456", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:238113006 {source="DOID:8456", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0008412 {source="DOID:8456", source="MONDO:equivalentTo"}
is_a: MONDO:0006873 {source="DOID:8456", source="MESH:D002796/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: exactMatch DOID:8456
property_value: exactMatch http://identifiers.org/mesh/D002796
property_value: exactMatch http://identifiers.org/snomedct/238113006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008412

[Term]
id: MONDO:0004576
name: obsolete pellagra
is_obsolete: true
replaced_by: MONDO:0019975

[Term]
id: MONDO:0004577
name: corneal ulcer
def: "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." [NCIT:P378]
synonym: "cornea ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ulcer disease of cornea" EXACT [MONDO:design_pattern]
synonym: "Ulcer, corneal" EXACT [NCIT:C50515]
xref: COHD:373202 {source="MONDO:equivalentTo"}
xref: DOID:8463 {source="MONDO:equivalentTo"}
xref: HP:0200020 {source="MONDO:otherHierarchy"}
xref: ICD10:H16.0 {source="MONDO:equivalentTo", source="DOID:8463"}
xref: ICD10:H16.00 {source="DOID:8463"}
xref: ICD9:370.0 {source="DOID:8463"}
xref: ICD9:370.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:8463"}
xref: MESH:D003320 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8463"}
xref: NCIT:C50515 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8463"}
xref: SCTID:91514001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8463"}
xref: UMLS:C0010043 {source="NCIT:C50515", source="MONDO:equivalentTo", source="DOID:8463"}
is_a: MONDO:0003085 {source="DOID:8463", source="ICD10:H16.0", source="MESH:D003320"} ! keratitis
is_a: MONDO:0043839 ! ulcer disease
property_value: closeMatch http://identifiers.org/snomedct/155152009
property_value: closeMatch http://identifiers.org/snomedct/193758008
property_value: closeMatch http://identifiers.org/snomedct/193759000
property_value: closeMatch http://identifiers.org/snomedct/193763007
property_value: exactMatch DOID:8463
property_value: exactMatch http://identifiers.org/mesh/D003320
property_value: exactMatch http://identifiers.org/snomedct/91514001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010043
property_value: exactMatch NCIT:C50515

[Term]
id: MONDO:0004578
name: flat retinoschisis
xref: DOID:8464 {source="MONDO:equivalentTo"}
xref: ICD9:361.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:8464"}
xref: SCTID:83405000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8464"}
xref: UMLS:C0154817 {source="MONDO:equivalentTo", source="DOID:8464"}
is_a: MONDO:0004579 {source="DOID:8464", source="linkedlifedata"} ! retinoschisis
property_value: closeMatch http://identifiers.org/snomedct/193332006
property_value: exactMatch DOID:8464
property_value: exactMatch http://identifiers.org/snomedct/83405000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154817

[Term]
id: MONDO:0004579
name: retinoschisis
def: "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." [NCIT:P378]
xref: COHD:381282 {source="MONDO:equivalentTo"}
xref: DOID:8465 {source="MONDO:equivalentTo"}
xref: ICD10:H33.10 {source="DOID:8465"}
xref: ICD9:361.10 {source="MONDO:equivalentTo", source="i2s", source="DOID:8465"}
xref: MESH:D041441 {source="MONDO:equivalentTo", source="DOID:8465"}
xref: NCIT:C85046 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8465"}
xref: SCTID:44268007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8465"}
xref: UMLS:C0152439 {source="MONDO:equivalentTo", source="NCIT:C85046", source="DOID:8465"}
is_a: MONDO:0004580 {source="DOID:8465", source="MESH:D041441", source="linkedlifedata"} ! retinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193330003
property_value: closeMatch http://identifiers.org/snomedct/389992006
property_value: exactMatch DOID:8465
property_value: exactMatch http://identifiers.org/mesh/D041441
property_value: exactMatch http://identifiers.org/snomedct/44268007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152439
property_value: exactMatch NCIT:C85046

[Term]
id: MONDO:0004580
name: retinal degeneration
def: "Degeneration of the retina." [NCIT:C34979]
synonym: "degeneration of retina" EXACT [DOID:8466]
synonym: "retina degeneration" EXACT [DOID:8466, MTH:649]
synonym: "retina, Degeneration Of" EXACT [NCIT:C34979]
xref: DOID:8466 {source="MONDO:equivalentTo"}
xref: MESH:D012162 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8466"}
xref: NCIT:C34979 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:8466"}
xref: SCTID:95695004 {source="MONDO:equivalentTo", source="DOID:8466", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005283 {source="DOID:8466", source="MESH:D012162", source="linkedlifedata"} ! retinal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035304
property_value: exactMatch DOID:8466
property_value: exactMatch http://identifiers.org/mesh/D012162
property_value: exactMatch http://identifiers.org/snomedct/95695004
property_value: exactMatch NCIT:C34979

[Term]
id: MONDO:0004581
name: obsolete localized scleroderma
is_obsolete: true
replaced_by: MONDO:0019562

[Term]
id: MONDO:0004582
name: rheumatic myocarditis
def: "Inflammation of the myocardium in acute rheumatic heart disease." [NCIT:C35202]
synonym: "active rheumatic fever with myocarditis" EXACT [DOID:8481]
synonym: "acute rheumatic carditis" EXACT [DOID:8481]
synonym: "acute rheumatic myocarditis" EXACT [DOID:8481, ICD9CM_2006:391.2, NCIT:C35202]
synonym: "acute rheumatic myocarditis (disorder) [ambiguous]" EXACT [DOID:8481]
synonym: "rheumatic degeneration of myocardium" EXACT [DOID:8481]
synonym: "rheumatic fever with myocarditis" EXACT [DOID:8481, MTHICD9_2006:391.2]
synonym: "rheumatic myocarditis" EXACT [DOID:8481, ICD9CM_2006:398.0]
synonym: "rheumatoid myocarditis" EXACT [DOID:8481]
xref: COHD:320743 {source="MONDO:equivalentTo"}
xref: DOID:8481 {source="MONDO:equivalentTo"}
xref: ICD10:I01.9 {source="DOID:8481"}
xref: ICD10:I09.0 {source="DOID:8481"}
xref: ICD10:M05.3 {source="DOID:8481"}
xref: ICD9:391.9 {source="DOID:8481"}
xref: ICD9:398.0 {source="DOID:8481"}
xref: NCIT:C35202 {source="MONDO:equivalentTo"}
xref: SCTID:195136004 {source="MONDO:equivalentTo", source="DOID:8481", source="MONDO:kboom-pr-0.94/0.83/1.02"}
xref: UMLS:C0155557 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006955 {source="DOID:8481", source="NCIT:C35202/inferred"} ! rheumatic heart disease
is_a: MONDO:0022519 ! autoimmune myocarditis
intersection_of: MONDO:0004496 ! myocarditis
intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis
relationship: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis
property_value: closeMatch http://identifiers.org/snomedct/155270000
property_value: closeMatch http://identifiers.org/snomedct/194713007
property_value: closeMatch http://identifiers.org/snomedct/194750008
property_value: closeMatch http://identifiers.org/snomedct/266285003
property_value: closeMatch http://identifiers.org/snomedct/367538001
property_value: closeMatch http://identifiers.org/snomedct/4536006
property_value: closeMatch http://identifiers.org/snomedct/8805001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0489959
property_value: exactMatch DOID:8481
property_value: exactMatch http://identifiers.org/snomedct/195136004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155557
property_value: exactMatch NCIT:C35202

[Term]
id: MONDO:0004583
name: transient retinal arterial occlusion
def: "A partial, temporary occlusion of the retinal artery." [NCIT:C35193]
synonym: "retinal transient arterial occlusion" EXACT [DOID:8482]
synonym: "transient arterial retinal occlusion" EXACT [DOID:8482]
synonym: "transient retinal arterial occlusion" EXACT [DOID:8482, ICD9CM_2006:362.34, NCIT:C35193]
xref: COHD:433195 {source="MONDO:equivalentTo"}
xref: DOID:8482 {source="MONDO:equivalentTo"}
xref: ICD10:H34.0 {source="DOID:8482"}
xref: ICD9:362.34 {source="MONDO:equivalentTo", source="DOID:8482", source="i2s"}
xref: NCIT:C35193 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:8482"}
xref: SCTID:87224000 {source="MONDO:equivalentTo", source="DOID:8482", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154840 {source="MONDO:equivalentTo", source="DOID:8482", source="NCIT:C35193"}
is_a: MONDO:0006948 {source="DOID:8482", source="MONDO:Redundant", source="NCIT:C35193", source="linkedlifedata"} ! retinal artery occlusion
property_value: closeMatch http://identifiers.org/snomedct/193377008
property_value: exactMatch DOID:8482
property_value: exactMatch http://identifiers.org/snomedct/87224000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154840
property_value: exactMatch NCIT:C35193

[Term]
id: MONDO:0004584
name: maple bark strippers' lung
synonym: "alveolitis due to cryptostroma corticale" EXACT [DOID:8484]
synonym: "maple bark disease" EXACT [DOID:8484]
synonym: "maple bark stripper's disease" EXACT [DOID:8484]
synonym: "maple bark stripper's lung" EXACT [DOID:8484]
synonym: "maple bark-strippers' lung" EXACT [DOID:8484, ICD9CM_2006:495.6]
synonym: "maple-bark strippers' lung" EXACT [DOID:8484]
xref: DOID:8484 {source="MONDO:equivalentTo"}
xref: ICD10:J67.6 {source="DOID:8484"}
xref: ICD9:495.6 {source="DOID:8484"}
xref: SCTID:86638007 {source="MONDO:equivalentTo", source="DOID:8484", source="MONDO:kboom-pr-1.00/0.91/25.94"}
xref: UMLS:C0155890 {source="MONDO:equivalentTo", source="DOID:8484"}
is_a: MONDO:0002312 {source="DOID:8484"} ! opportunistic mycosis
is_a: MONDO:0005766 ! fungal lung infectious disease
is_a: MONDO:0017853 {source="linkedlifedata"} ! hypersensitivity pneumonitis
property_value: exactMatch DOID:8484
property_value: exactMatch http://identifiers.org/snomedct/86638007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155890

[Term]
id: MONDO:0004585
name: polyhydramnios (disease)
def: "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." [NCIT:P378]
comment: May be obsoleted as it represents a finding
synonym: "polyhydramnios" EXACT [MONDO:ambiguous]
xref: DOID:8488 {source="MONDO:equivalentTo"}
xref: HP:0001561 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:O40 {source="DOID:8488"}
xref: ICD9:657 {source="DOID:8488"}
xref: ICD9:657.0 {source="DOID:8488"}
xref: ICD9:657.00 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006831 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8488"}
xref: SCTID:86203003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8488"}
is_a: MONDO:0024575 {source="linkedlifedata/inferred"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0005917 {source="DOID:8488"} ! placenta disease
property_value: closeMatch http://identifiers.org/snomedct/156188008
property_value: closeMatch http://identifiers.org/snomedct/157052008
property_value: closeMatch http://identifiers.org/snomedct/199644009
property_value: closeMatch http://identifiers.org/snomedct/199645005
property_value: closeMatch http://identifiers.org/snomedct/199648007
property_value: closeMatch http://identifiers.org/snomedct/199650004
property_value: closeMatch http://identifiers.org/snomedct/267261001
property_value: closeMatch http://identifiers.org/snomedct/405235009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020224
property_value: exactMatch DOID:8488
property_value: exactMatch http://identifiers.org/mesh/D006831
property_value: exactMatch http://identifiers.org/snomedct/86203003
property_value: exactMatch NCIT:C92848

[Term]
id: MONDO:0004586
name: rheumatoid lung disease
def: "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." [https://medlineplus.gov/ency/article/000113.htm, PMID:17684286]
synonym: "rheumatoid lung" EXACT [DOID:849]
xref: COHD:256197 {source="MONDO:equivalentTo"}
xref: DOID:849 {source="MONDO:equivalentTo"}
xref: ICD9:714.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:849"}
xref: SCTID:398726004 {source="MONDO:equivalentTo", source="DOID:849", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0994344 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005275 {source="DOID:849", source="MONDO:Redundant", source="linkedlifedata"} ! lung disease
is_a: MONDO:0007179 {source="DOID:849", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0005275 ! lung disease
intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis
relationship: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis
property_value: closeMatch http://identifiers.org/snomedct/111280008
property_value: closeMatch http://identifiers.org/snomedct/155621007
property_value: closeMatch http://identifiers.org/snomedct/196132006
property_value: closeMatch http://identifiers.org/snomedct/201794001
property_value: closeMatch http://identifiers.org/snomedct/201813004
property_value: exactMatch DOID:849
property_value: exactMatch http://identifiers.org/snomedct/398726004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0994344

[Term]
id: MONDO:0004587
name: hereditary night blindness
def: "An instance of night blindness that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital night blindness" EXACT [DOID:8498, ICD9CM_2006:368.61]
synonym: "hereditary night blindness" EXACT [MONDO:patterns/hereditary]
synonym: "Oguchi's disease" BROAD [DOID:8498, MTHICD9_2006:368.61]
xref: DOID:8498 {source="MONDO:equivalentTo"}
xref: ICD10:H53.63 {source="DOID:8498"}
xref: ICD9:368.61 {source="MONDO:directSiblingOf", source="DOID:8498"}
xref: SCTID:193687000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:8498"}
is_a: MONDO:0004588 {source="DOID:8498", source="MONDO:Redundant", source="MONDOLEX:0004587", source="linkedlifedata"} ! night blindness
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0004588 ! night blindness
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/193688005
property_value: closeMatch http://identifiers.org/snomedct/193689002
property_value: closeMatch http://identifiers.org/snomedct/89208008
property_value: exactMatch DOID:8498
property_value: exactMatch http://identifiers.org/snomedct/193687000

[Term]
id: MONDO:0004588
name: night blindness
def: "Inability to see clearly in dim light." [NCIT:P378]
synonym: "nyctalopia" EXACT [NCIT:C34850]
xref: COHD:374037 {source="MONDO:equivalentTo"}
xref: DOID:8499 {source="MONDO:equivalentTo"}
xref: ICD10:H53.6 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: ICD10:H53.60 {source="DOID:8499"}
xref: ICD9:368.6 {source="DOID:8499"}
xref: ICD9:368.60 {source="MONDO:equivalentTo", source="i2s", source="DOID:8499"}
xref: ICD9:368.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009755 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: NCIT:C34850 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.78/1.16", source="DOID:8499"}
xref: SCTID:65194006 {source="MONDO:kboom-pr-0.93/0.75/1.29", source="MONDO:equivalentTo", source="DOID:8499"}
xref: UMLS:C0028077 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34850", source="DOID:8499"}
is_a: MONDO:0001941 {source="NCIT:C34850", source="linkedlifedata"} ! blindness (disorder)
is_a: MONDO:0005283 {source="DOID:8499", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/155144006
property_value: closeMatch http://identifiers.org/snomedct/193686009
property_value: closeMatch http://identifiers.org/snomedct/193693008
property_value: closeMatch http://identifiers.org/snomedct/75390007
property_value: exactMatch DOID:8499
property_value: exactMatch http://identifiers.org/mesh/D009755
property_value: exactMatch http://identifiers.org/snomedct/65194006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028077
property_value: exactMatch NCIT:C34850
property_value: exactMatch NCIT:C37997

[Term]
id: MONDO:0004589
name: obsolete hereditary retinal dystrophy
is_obsolete: true
replaced_by: MONDO:0019118

[Term]
id: MONDO:0004590
name: obsolete fundus dystrophy
is_obsolete: true
replaced_by: MONDO:0019118

[Term]
id: MONDO:0004591
name: impetigo herpetiformis
def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." [DOID:8503, http://en.wikipedia.org/wiki/Impetigo_herpetiformis]
xref: DOID:8503 {source="MONDO:equivalentTo"}
xref: EFO:1000715 {source="MONDO:equivalentTo"}
xref: ICD10:L40.1 {source="DOID:8503"}
xref: ICD9:694.3 {source="DOID:8503", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:65539006 {source="DOID:8503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1314968 {source="DOID:8503", source="MONDO:equivalentTo"}
is_a: MONDO:0004592 {source="DOID:8503", source="EFO:1000715"} ! impetigo
is_a: MONDO:0024575 {source="linkedlifedata"} ! pregnancy disorder
property_value: exactMatch DOID:8503
property_value: exactMatch http://identifiers.org/snomedct/65539006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1314968

[Term]
id: MONDO:0004592
name: impetigo
def: "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." [NCIT:P378]
xref: COHD:140480 {source="MONDO:equivalentTo"}
xref: DOID:8504 {source="MONDO:equivalentTo"}
xref: EFO:1000714 {source="MONDO:equivalentTo"}
xref: ICD10:L01 {source="DOID:8504", source="MONDO:equivalentTo"}
xref: ICD10:L01.0 {source="DOID:8504"}
xref: ICD10:L01.00 {source="DOID:8504"}
xref: ICD9:684 {source="DOID:8504", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007169 {source="DOID:8504", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99088 {source="DOID:8504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:48277006 {source="DOID:8504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0021099 {source="DOID:8504", source="MONDO:equivalentTo", source="NCIT:C99088"}
is_a: MONDO:0002922 {source="DOID:8504", source="linkedlifedata"} ! pyoderma
is_a: MONDO:0005545 ! staphylococcus aureus infection
is_a: MONDO:0021201 {source="MONDO:Entailed", source="NCIT:C99088", source="linkedlifedata/inferred"} ! skin infection
is_a: MONDO:0021680 ! streptococcal infection
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/snomedct/156319000
property_value: closeMatch http://identifiers.org/snomedct/200710001
property_value: closeMatch http://identifiers.org/snomedct/267836006
property_value: exactMatch DOID:8504
property_value: exactMatch http://identifiers.org/mesh/D007169
property_value: exactMatch http://identifiers.org/snomedct/48277006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021099
property_value: exactMatch NCIT:C99088

[Term]
id: MONDO:0004593
name: Bartholin duct cyst
def: "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." [NCIT:P378]
synonym: "Bartholin's cyst" EXACT [DOID:851, NCIT:C26706]
synonym: "Bartholin's duct cyst" EXACT [DOID:851]
synonym: "cyst of Bartholin's gland" EXACT [DOID:851]
synonym: "cyst of Bartholin's gland duct" EXACT [DOID:851]
xref: COHD:259865 {source="MONDO:equivalentTo"}
xref: DOID:851 {source="MONDO:equivalentTo"}
xref: ICD10:N75.0 {source="MONDO:equivalentTo", source="DOID:851"}
xref: ICD9:616.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:851"}
xref: SCTID:57044006 {source="MONDO:equivalentTo", source="DOID:851", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0004767 {source="MONDO:equivalentTo", source="DOID:851"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0002263 {source="DOID:851", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! female reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/155982004
property_value: closeMatch http://identifiers.org/snomedct/27978000
property_value: exactMatch DOID:851
property_value: exactMatch http://identifiers.org/snomedct/57044006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004767
property_value: exactMatch NCIT:C26706

[Term]
id: MONDO:0004594
name: puerperal pulmonary embolism
xref: DOID:8512 {source="MONDO:equivalentTo"}
xref: ICD10:O88.21 {source="DOID:8512"}
xref: ICD10:O88.23 {source="DOID:8512"}
xref: ICD9:673 {source="DOID:8512"}
xref: ICD9:673.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:673.81 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:200284000 {source="DOID:8512", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
is_a: MONDO:0005279 {source="DOID:8512", source="linkedlifedata"} ! pulmonary embolism (disease)
property_value: closeMatch http://identifiers.org/snomedct/156273009
property_value: closeMatch http://identifiers.org/snomedct/200320009
property_value: closeMatch http://identifiers.org/snomedct/200321008
property_value: closeMatch http://identifiers.org/snomedct/200326003
property_value: closeMatch http://identifiers.org/snomedct/237341004
property_value: closeMatch http://identifiers.org/snomedct/50286006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157540
property_value: exactMatch DOID:8512
property_value: exactMatch http://identifiers.org/snomedct/200284000

[Term]
id: MONDO:0004595
name: acute pulmonary heart disease
xref: DOID:8514 {source="MONDO:equivalentTo"}
xref: ICD9:415 {source="DOID:8514"}
xref: SCTID:67189007 {source="DOID:8514", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155671 {source="DOID:8514", source="MONDO:equivalentTo"}
is_a: MONDO:0004596 {source="DOID:8514", source="linkedlifedata"} ! cor pulmonale
property_value: closeMatch http://identifiers.org/snomedct/155324005
property_value: closeMatch http://identifiers.org/snomedct/194880009
property_value: closeMatch http://identifiers.org/snomedct/194884000
property_value: exactMatch DOID:8514
property_value: exactMatch http://identifiers.org/snomedct/67189007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155671

[Term]
id: MONDO:0004596
name: cor pulmonale
def: "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." [MESH:D011660]
synonym: "cardiopulmonary disease" EXACT [CSP2005:2595-5525, DOID:8515]
synonym: "cor pulmonale" EXACT [MESH:D011660]
synonym: "disease, pulmonary heart" RELATED [MESH:D011660]
synonym: "diseases, pulmonary heart" RELATED [MESH:D011660]
synonym: "heart disease, pulmonary" RELATED [MESH:D011660]
synonym: "heart diseases, pulmonary" RELATED [MESH:D011660]
synonym: "pulmonary heart disease" EXACT [DOID:8515]
synonym: "pulmonary heart diseases" RELATED [MESH:D011660]
xref: COHD:4307356 {source="MONDO:equivalentTo"}
xref: DOID:8515 {source="MONDO:equivalentTo"}
xref: ICD10:I27.81 {source="DOID:8515", source="MONDO:equivalentTo"}
xref: ICD10:I27.9 {source="DOID:8515"}
xref: MESH:D011660 {source="DOID:8515", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:274096000 {source="DOID:8515", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0034072 {source="DOID:8515", source="MONDO:equivalentTo"}
is_a: MONDO:0005009 {source="DOID:8515"} ! congestive heart failure
property_value: closeMatch http://identifiers.org/snomedct/155323004
property_value: closeMatch http://identifiers.org/snomedct/155329000
property_value: closeMatch http://identifiers.org/snomedct/194879006
property_value: closeMatch http://identifiers.org/snomedct/266294009
property_value: closeMatch http://identifiers.org/snomedct/286952009
property_value: closeMatch http://identifiers.org/snomedct/83291003
property_value: exactMatch DOID:8515
property_value: exactMatch http://identifiers.org/mesh/D011660
property_value: exactMatch http://identifiers.org/snomedct/274096000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034072

[Term]
id: MONDO:0004597
name: pulmonary embolism and infarction
def: "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." [NCIT:C50714]
comment: Editor note: add terms for pulmonary necrosis
synonym: "infarction, pulmonary" EXACT [NCIT:C50714]
synonym: "lung infarction" RELATED [https://en.wikipedia.org/wiki/Lung_infarction]
synonym: "pulmonary infarction" RELATED []
xref: DOID:8516 {source="MONDO:equivalentTo"}
xref: EFO:1001408 {source="MONDO:equivalentTo"}
xref: ICD9:415.1 {source="DOID:8516"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D054060 {source="MONDO:equivalentTo"}
xref: NCIT:C50714 {source="MONDO:kboom-pr-1.00/0.79/8.44", source="MONDO:equivalentTo"}
xref: SCTID:64662007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.88"}
is_a: MONDO:0004595 {source="DOID:8516"} ! acute pulmonary heart disease
property_value: closeMatch http://identifiers.org/snomedct/1001000119102
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034066
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034074
property_value: exactMatch DOID:8516
property_value: exactMatch http://identifiers.org/mesh/D054060
property_value: exactMatch http://identifiers.org/snomedct/64662007
property_value: exactMatch NCIT:C50714

[Term]
id: MONDO:0004598
name: acute cor pulmonale
def: "Acute form of cor pulmonale." [MONDO:patterns/acute]
synonym: "cor pulmonale, acute" EXACT [MONDO:patterns/acute]
xref: COHD:312927 {source="MONDO:equivalentTo"}
xref: DOID:8517 {source="MONDO:equivalentTo"}
xref: ICD10:I26.09 {source="DOID:8517"}
xref: ICD9:415.0 {source="MONDO:equivalentTo", source="DOID:8517", source="i2s"}
xref: SCTID:49584005 {source="MONDO:equivalentTo", source="DOID:8517", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155672 {source="MONDO:equivalentTo", source="DOID:8517"}
is_a: MONDO:0004595 {source="DOID:8517", source="linkedlifedata"} ! acute pulmonary heart disease
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155325006
property_value: closeMatch http://identifiers.org/snomedct/194881008
property_value: exactMatch DOID:8517
property_value: exactMatch http://identifiers.org/snomedct/49584005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155672

[Term]
id: MONDO:0004599
name: barbiturate abuse
def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." [DOID:8519, http://en.wikipedia.org/wiki/Barbiturate]
xref: DOID:8519 {source="MONDO:equivalentTo"}
xref: ICD9:305.43 {source="MONDO:relatedTo", source="i2s", source="DOID:8519"}
xref: SCTID:231462006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002491 {source="DOID:8519", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154529
property_value: exactMatch DOID:8519
property_value: exactMatch http://identifiers.org/snomedct/231462006

[Term]
id: MONDO:0004600
name: monocytic leukemia
synonym: "schilling's leukemia" EXACT [CSP2005:2004-2820, DOID:8527]
xref: COHD:321526 {source="MONDO:equivalentTo"}
xref: DOID:8527 {source="MONDO:equivalentTo"}
xref: ICD10:C93.Z {source="DOID:8527"}
xref: ICD10:C93.Z0 {source="DOID:8527"}
xref: ICD9:206.8 {source="DOID:8527"}
xref: ICD9:206.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:206.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:206.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:206.91 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:188744006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005059 {source="DOID:8527/inferred", source="linkedlifedata"} ! leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/188747004
property_value: closeMatch http://identifiers.org/snomedct/188749001
property_value: closeMatch http://identifiers.org/snomedct/190062007
property_value: closeMatch http://identifiers.org/snomedct/190160002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153903
property_value: exactMatch DOID:8527
property_value: exactMatch http://identifiers.org/snomedct/188744006

[Term]
id: MONDO:0004601
name: ulcer of lower limbs
def: "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." [DOID:8529, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer]
synonym: "Ulcer of ankle" NARROW [DOID:8529]
synonym: "Ulcer of calf" NARROW [DOID:8529]
synonym: "Ulcer of heel and midfoot" NARROW [DOID:8529]
synonym: "Ulcer of thigh" NARROW [DOID:8529]
xref: DOID:8529 {source="MONDO:equivalentTo"}
xref: EFO:0007068 {source="MONDO:equivalentTo"}
xref: ICD9:707.13 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:419193008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.31/0.19"}
is_a: MONDO:0004605 {source="DOID:8529", source="EFO:0007068"} ! chronic ulcer of skin
property_value: exactMatch DOID:8529
property_value: exactMatch http://identifiers.org/snomedct/419193008

[Term]
id: MONDO:0004602
name: obsolete polymyalgia rheumatica
is_obsolete: true
replaced_by: MONDO:0019735

[Term]
id: MONDO:0004603
name: collagenopathy
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0044971 ! disease of macromolecular complex

[Term]
id: MONDO:0004604
name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance
def: "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)" [NCIT:P378]
synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [DOID:8543]
synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [DOID:8543]
synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [DOID:8543]
synonym: "Hodgkin's disease, lymphocyte predominance [obs]" EXACT [DOID:8543]
synonym: "LRCHL" EXACT [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin's disease" EXACT [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich Hodgkin's disease" EXACT [DOID:8543, NCIT:C6913]
synonym: "lymphocyte rich Hodgkin's lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich Classic Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913]
xref: DOID:8543 {source="MONDO:equivalentTo"}
xref: ICD10:C81.4 {source="DOID:8543"}
xref: ICD9:201.4 {source="DOID:8543"}
xref: ICDO:9651/3 {source="NCIT:C6913"}
xref: NCIT:C6913 {source="MONDO:equivalentTo", source="DOID:8543", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:LRCHL {source="MONDO:equivalentTo"}
xref: SCTID:118607005 {source="MONDO:equivalentTo", source="DOID:8543", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0009348 {source="MONDOLEX:0004604", source="NCIT:C6913", source="ONCOTREE:LRCHL"} ! classic Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/128799007
property_value: closeMatch http://identifiers.org/snomedct/188553001
property_value: closeMatch http://identifiers.org/snomedct/188563009
property_value: closeMatch http://identifiers.org/snomedct/189988001
property_value: closeMatch http://identifiers.org/snomedct/59668005
property_value: exactMatch DOID:8543
property_value: exactMatch http://identifiers.org/snomedct/118607005
property_value: exactMatch NCIT:C6913

[Term]
id: MONDO:0004605
name: chronic ulcer of skin
synonym: "callous ulcer" EXACT [DOID:8549]
synonym: "callous ulcer (morphologic abnormality)" EXACT [DOID:8549]
synonym: "indolent ulcer" EXACT [DOID:8549]
synonym: "indolent ulcer (morphologic abnormality)" EXACT [DOID:8549]
xref: COHD:134441 {source="MONDO:equivalentTo"}
xref: DOID:8549 {source="MONDO:equivalentTo"}
xref: EFO:0007066 {source="MONDO:equivalentTo"}
xref: ICD10:L98.4 {source="DOID:8549"}
xref: ICD9:707 {source="DOID:8549"}
xref: ICD9:707.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:707.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:19429009 {source="DOID:8549", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0157738 {source="DOID:8549", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:8549", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156423009
property_value: closeMatch http://identifiers.org/snomedct/156426001
property_value: closeMatch http://identifiers.org/snomedct/201259007
property_value: exactMatch DOID:8549
property_value: exactMatch http://identifiers.org/snomedct/19429009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157738

[Term]
id: MONDO:0004606
name: obsolete pyoderma gangrenosum
is_obsolete: true
replaced_by: MONDO:0018824

[Term]
id: MONDO:0004607
name: vallecula cancer
def: "A cancer involving a epiglottic vallecula." [MONDO:patterns/cancer]
synonym: "cancer of epiglottic vallecula" EXACT [MONDO:patterns/cancer]
synonym: "epiglottic vallecula cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epiglottic vallecula neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epiglottic vallecula" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vallecula" EXACT [DOID:8556]
xref: DOID:8556 {source="MONDO:equivalentTo"}
xref: ICD10:C10.0 {source="DOID:8556", source="MONDO:equivalentTo"}
xref: ICD9:146.3 {source="DOID:8556", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363395000 {source="DOID:8556", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153386 {source="DOID:8556", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004608 {source="DOID:8556", source="ICD10:C10.0"} ! oropharynx cancer
property_value: closeMatch http://identifiers.org/snomedct/94132005
property_value: exactMatch DOID:8556
property_value: exactMatch http://identifiers.org/snomedct/363395000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153386

[Term]
id: MONDO:0004608
name: oropharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the oropharynx." [NCIT:C7398]
synonym: "cancer of oropharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [DOID:8557]
synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557, MTH:U000704]
synonym: "malignant neoplasm of oropharynx" EXACT [DOID:8557, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C7398]
synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [DOID:8557]
synonym: "malignant neoplasm of the oropharynx" EXACT [NCIT:C7398]
synonym: "malignant oropharyngeal neoplasm" EXACT [NCIT:C7398]
synonym: "malignant oropharyngeal tumor" EXACT [DOID:8557, NCIT:C7398]
synonym: "malignant oropharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of oropharynx" EXACT [NCIT:C7398]
synonym: "malignant tumor of posterior wall of oropharynx" EXACT [DOID:8557]
synonym: "malignant tumor of the oropharynx" EXACT [NCIT:C7398]
synonym: "malignant tumour of mesopharynx" EXACT [DOID:8557]
synonym: "oropharyngeal cancer" EXACT [CSP2005:2013-1302, DOID:8557]
synonym: "oropharyngeal carcinoma" EXACT [DOID:8557, NCIT:C9105]
synonym: "oropharynx cancer" EXACT [MONDO:patterns/location]
synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557]
xref: DOID:8557 {source="MONDO:equivalentTo"}
xref: EFO:1001931 {source="MONDO:equivalentTo"}
xref: GARD:0009358 {source="MONDO:equivalentTo"}
xref: ICD10:C10 {source="DOID:8557", source="MONDO:equivalentTo"}
xref: ICD10:C10.2 {source="DOID:8557"}
xref: ICD10:C10.3 {source="DOID:8557"}
xref: ICD10:C10.8 {source="DOID:8557"}
xref: ICD10:C10.9 {source="DOID:8557"}
xref: ICD9:146 {source="DOID:8557"}
xref: ICD9:146.5 {source="DOID:8557"}
xref: ICD9:146.6 {source="DOID:8557"}
xref: ICD9:146.7 {source="DOID:8557"}
xref: ICD9:146.9 {source="DOID:8557"}
xref: MESH:D009959 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7398 {source="DOID:8557", source="MONDO:equivalentTo"}
xref: UMLS:C0153382 {source="NCIT:C7398", source="DOID:8557", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0153389 {source="DOID:8557", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0153390 {source="DOID:8557", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2349952 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C3165521 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005517 {source="DOID:8557", source="EFO:1001931", source="MESH:D009959", source="MONDO:Redundant", source="MONDOLEX:0004608", source="NCIT:C7398"} ! pharynx cancer
is_a: MONDO:0021364 {source="MONDO:Redundant", source="MONDOLEX:0004608", source="NCIT:C7398"} ! neoplasm of oropharynx
property_value: closeMatch http://identifiers.org/snomedct/187686007
property_value: closeMatch http://identifiers.org/snomedct/187688008
property_value: closeMatch http://identifiers.org/snomedct/187691008
property_value: closeMatch http://identifiers.org/snomedct/363392002
property_value: closeMatch http://identifiers.org/snomedct/373653002
property_value: closeMatch http://identifiers.org/snomedct/448868009
property_value: closeMatch http://identifiers.org/snomedct/93933005
property_value: closeMatch http://identifiers.org/snomedct/93971002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153388
property_value: exactMatch DOID:8557
property_value: exactMatch http://identifiers.org/mesh/D009959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153382
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2349952
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165521
property_value: exactMatch NCIT:C7398

[Term]
id: MONDO:0004609
name: herpes simplex infectious disease
def: "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)" [MESH:D006561]
synonym: "herpes simplex" RELATED []
synonym: "herpes simplex complex" RELATED []
synonym: "herpes simplex infection" RELATED []
synonym: "herpes simplex viral infection" RELATED []
synonym: "Herpesvirus hominis disease" EXACT [CSP2005:3099-9580, DOID:8566]
synonym: "Simplexvirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus disease or disorder" EXACT []
synonym: "Simplexvirus infectious disease" EXACT []
xref: COHD:444429 {source="MONDO:equivalentTo"}
xref: DOID:8566 {source="MONDO:equivalentTo"}
xref: EFO:1002022 {source="MONDO:equivalentTo"}
xref: ICD10:B00 {source="DOID:8566", source="MONDO:equivalentTo"}
xref: ICD10:B00.9 {source="DOID:8566"}
xref: ICD9:054 {source="DOID:8566"}
xref: ICD9:058.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006561 {source="DOID:8566", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:88594005 {source="DOID:8566", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0019348 {source="DOID:8566", source="MONDO:equivalentTo"}
is_a: MONDO:0005794 {source="MESH:D006561", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! Herpesviridae infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154332007
property_value: closeMatch http://identifiers.org/snomedct/186534002
property_value: closeMatch http://identifiers.org/snomedct/266191005
property_value: exactMatch DOID:8566
property_value: exactMatch http://identifiers.org/mesh/D006561
property_value: exactMatch http://identifiers.org/snomedct/88594005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019348

[Term]
id: MONDO:0004610
name: obsolete multiple carboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0015454

[Term]
id: MONDO:0004611
name: soft palate cancer
def: "A primary or metastatic malignant neoplasm that affects the soft palate." [NCIT:C3529]
synonym: "cancer of soft palate" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of soft palate" EXACT [MONDO:patterns/cancer, NCIT:C3529]
synonym: "malignant neoplasm of the soft palate" EXACT [NCIT:C3529]
synonym: "malignant soft palate neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3529]
synonym: "malignant soft palate tumor" EXACT [NCIT:C3529]
synonym: "malignant tumor of soft palate" EXACT [NCIT:C3529]
synonym: "malignant tumor of the soft palate" EXACT [DOID:8578, NCIT:C3529]
synonym: "soft palate cancer" EXACT [MONDO:patterns/location]
xref: DOID:8578 {source="MONDO:equivalentTo"}
xref: ICD10:C05.1 {source="DOID:8578", source="MONDO:equivalentTo"}
xref: ICD9:145.3 {source="DOID:8578", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3529 {source="DOID:8578", source="MONDO:equivalentTo"}
xref: SCTID:363388009 {source="DOID:8578", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153376 {source="DOID:8578", source="NCIT:C3529", source="MONDO:equivalentTo"}
is_a: MONDO:0004608 {source="NCIT:C3529"} ! oropharynx cancer
is_a: MONDO:0005286 ! palatal neoplasm
is_a: MONDO:0005515 {source="DOID:8578", source="MONDO:Redundant", source="NCIT:C3529/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity cancer
property_value: closeMatch http://identifiers.org/snomedct/94049001
property_value: exactMatch DOID:8578
property_value: exactMatch http://identifiers.org/snomedct/363388009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153376
property_value: exactMatch NCIT:C3529

[Term]
id: MONDO:0004612
name: malignant histiocytosis
def: "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." [MESH:D015620]
synonym: "disorders, malignant histiocytic" RELATED [MESH:D015620]
synonym: "histiocytic disorder, malignant" RELATED [MESH:D015620]
synonym: "histiocytic medullary reticulosis" EXACT [DOID:8580, NCIT:C7202]
synonym: "malignant histiocytic disease" EXACT [MONDO:0002346]
synonym: "malignant histiocytic disorders" RELATED [MESH:D015620]
synonym: "malignant midline reticulosis" EXACT [DOID:8580]
synonym: "malignant reticulosis" EXACT [DOID:8580, MTHICD9_2006:202.3]
synonym: "Stewart's granuloma" EXACT [DOID:8580]
xref: COHD:4041104 {source="MONDO:equivalentTo"}
xref: DOID:2570 {source="MONDO:equivalentTo"}
xref: DOID:8580 {source="MONDO:equivalentTo"}
xref: EFO:1001499 {source="MONDO:equivalentTo"}
xref: ICD10:C96.1 {source="MONDO:equivalentTo"}
xref: ICD10:C96.A {source="MONDO:relatedTo", source="DOID:8580"}
xref: ICD9:202.3 {source="DOID:8580"}
xref: ICDO:9750/3 {source="NCIT:C7202"}
xref: MESH:D015620 {source="MONDO:equivalentTo", source="DOID:2570"}
xref: NCIT:C7202 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8580"}
xref: SCTID:118612006 {source="MONDO:kboom-pr-1.00/0.78/6.75", source="MONDO:equivalentTo", source="DOID:8580"}
xref: UMLS:C0019623 {source="NCIT:C7202", source="MONDO:equivalentTo", source="DOID:8580"}
is_a: MONDO:0002637 {source="DOID:2570", source="DOID:8580", source="MESH:D015620", source="https://en.wikipedia.org/wiki/Malignant_histiocytosis"} ! histiocytosis
property_value: closeMatch http://identifiers.org/snomedct/127070008
property_value: closeMatch http://identifiers.org/snomedct/128920006
property_value: closeMatch http://identifiers.org/snomedct/134179007
property_value: closeMatch http://identifiers.org/snomedct/188643009
property_value: closeMatch http://identifiers.org/snomedct/188690006
property_value: closeMatch http://identifiers.org/snomedct/277648007
property_value: closeMatch http://identifiers.org/snomedct/66855003
property_value: closeMatch http://identifiers.org/snomedct/8139000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019613
property_value: exactMatch DOID:2570
property_value: exactMatch DOID:8580
property_value: exactMatch http://identifiers.org/mesh/D015620
property_value: exactMatch http://identifiers.org/snomedct/118612006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019623
property_value: exactMatch NCIT:C7202

[Term]
id: MONDO:0004613
name: acute intestinal ischemia
def: "Ischemia of the intestine that is rapid in onset." [NCIT:P378]
synonym: "acute gastrointestinal tract vascular insuffic." EXACT EXCLUDE [DOID:8590]
synonym: "acute git vascular insuffic." EXACT EXCLUDE [DOID:8590]
synonym: "acute intestinal ischemia" EXACT [DOID:8590, NCIT:C34356]
synonym: "acute intestinal vascular insufficiency" NARROW [DOID:8590]
xref: COHD:201894 {source="MONDO:equivalentTo"}
xref: DOID:8590 {source="MONDO:equivalentTo"}
xref: ICD9:557.0 {source="DOID:8590", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34356 {source="DOID:8590", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:91489000 {source="DOID:8590", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0001363 {source="DOID:8590", source="MONDO:equivalentTo", source="NCIT:C34356"}
is_a: MONDO:0020675 {source="NCIT:C34356"} ! ischemic bowel disease
property_value: closeMatch http://identifiers.org/snomedct/196998009
property_value: closeMatch http://identifiers.org/snomedct/197004007
property_value: exactMatch DOID:8590
property_value: exactMatch http://identifiers.org/snomedct/91489000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001363
property_value: exactMatch NCIT:C34356

[Term]
id: MONDO:0004614
name: chronic monocytic leukemia
def: "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." [MESH:D007951]
synonym: "monocytic leukemia, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:136056 {source="MONDO:equivalentTo"}
xref: DOID:8593 {source="MONDO:equivalentTo"}
xref: ICD10:C93.1 {source="DOID:8593"}
xref: ICD9:206.1 {source="DOID:8593"}
xref: ICD9:206.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:206.11 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34774 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8593"}
xref: SCTID:188745007 {source="MONDO:equivalentTo", source="DOID:8593", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023466 {source="MONDO:equivalentTo", source="NCIT:C34774", source="DOID:8593"}
is_a: MONDO:0001014 ! chronic leukemia
is_a: MONDO:0004600 {source="DOID:8593", source="MONDO:Redundant", source="linkedlifedata"} ! monocytic leukemia
property_value: closeMatch http://identifiers.org/snomedct/154595006
property_value: closeMatch http://identifiers.org/snomedct/190060004
property_value: closeMatch http://identifiers.org/snomedct/37810007
property_value: closeMatch http://identifiers.org/snomedct/46236001
property_value: closeMatch http://identifiers.org/snomedct/92816008
property_value: exactMatch DOID:8593
property_value: exactMatch http://identifiers.org/snomedct/188745007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023466
property_value: exactMatch NCIT:C34774

[Term]
id: MONDO:0004615
name: upper gum cancer
def: "A cancer involving a gingiva of upper jaw." [MONDO:patterns/cancer]
synonym: "cancer of gingiva of upper jaw" EXACT [MONDO:patterns/cancer]
synonym: "gingiva of upper jaw cancer" EXACT [MONDO:patterns/location]
synonym: "malignant gingiva of upper jaw neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gingiva of upper jaw" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of upper gingiva" EXACT [DOID:8601, MTH:U001011]
synonym: "malignant tumour of upper gum" EXACT [DOID:8601]
xref: DOID:8601 {source="MONDO:equivalentTo"}
xref: ICD10:C03.0 {source="DOID:8601"}
xref: ICD9:143.0 {source="DOID:8601", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363383000 {source="DOID:8601", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153365 {source="DOID:8601", source="MONDO:equivalentTo"}
is_a: MONDO:0005507 {source="DOID:8601", source="MONDO:Redundant", source="MONDOLEX:0004615", source="linkedlifedata"} ! gingival cancer
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/snomedct/94114005
property_value: exactMatch DOID:8601
property_value: exactMatch http://identifiers.org/snomedct/363383000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153365

[Term]
id: MONDO:0004616
name: herpetic whitlow
def: "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." [NCIT:C128402]
synonym: "herpetic felon" EXACT [DOID:8607, MTHICD9_2006:054.6]
synonym: "Simplexvirus caused paronychia (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus paronychia (disease)" EXACT []
xref: COHD:76034 {source="MONDO:equivalentTo"}
xref: DOID:8607 {source="MONDO:equivalentTo"}
xref: ICD9:054.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:8607"}
xref: NCIT:C128402 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:43891009 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo", source="DOID:8607"}
xref: UMLS:C0153042 {source="MONDO:equivalentTo", source="NCIT:C128402", source="DOID:8607"}
is_a: MONDO:0004609 {source="DOID:8607", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! herpes simplex infectious disease
is_a: MONDO:0005898 {source="MONDO:Redundant", source="NCIT:C128402"} ! paronychia (disease)
is_a: MONDO:0024294 ! skin disease caused by infection
is_a: MONDO:0024487 ! nail infection
property_value: exactMatch DOID:8607
property_value: exactMatch http://identifiers.org/snomedct/43891009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153042
property_value: exactMatch NCIT:C128402

[Term]
id: MONDO:0004617
name: recurrent hypersomnia
def: "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" [MESH:D006970]
synonym: "primary recurrent hypersomnia" EXACT [DOID:8619]
xref: DOID:8619 {source="MONDO:equivalentTo"}
xref: ICD10:G47.13 {source="MONDO:equivalentTo", source="DOID:8619"}
xref: ICD9:327.13 {source="MONDO:equivalentTo", source="DOID:8619", source="i2s"}
xref: SCTID:426451004 {source="MONDO:equivalentTo", source="DOID:8619", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751226 {source="MONDO:equivalentTo", source="DOID:8619"}
is_a: MONDO:0003406 {source="DOID:8619", source="ICD10:G47.13", source="ICD10:G47.13/inferred", source="linkedlifedata/inferred"} ! sleep-wake disorder
property_value: closeMatch http://identifiers.org/mesh/D006970
property_value: exactMatch DOID:8619
property_value: exactMatch http://identifiers.org/snomedct/426451004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751226

[Term]
id: MONDO:0004618
name: diplegia of upper limb
synonym: "diplegia of upper limbs" EXACT [DOID:862]
synonym: "diplegia, upper" EXACT [DOID:862, MTHICD9_2006:344.2]
xref: DOID:862 {source="MONDO:equivalentTo"}
xref: ICD10:G83.0 {source="DOID:862"}
xref: ICD9:344.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:862"}
xref: SCTID:54099005 {source="MONDO:equivalentTo", source="DOID:862", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154701 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:862"}
is_a: MONDO:0005071 {source="DOID:862", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/192968004
property_value: exactMatch DOID:862
property_value: exactMatch http://identifiers.org/snomedct/54099005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154701

[Term]
id: MONDO:0004619
name: measles
def: "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." [NCIT:P378]
subset: gard_rare {source="GARD:0003434"}
synonym: "Measles morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Measles morbillivirus disease or disorder" EXACT []
synonym: "Measles morbillivirus infectious disease" EXACT []
synonym: "morbilli" EXACT [CSP2005:3100-0554, DOID:8622]
synonym: "rubeola" RELATED [GARD:0003434]
synonym: "rubeola infection" EXACT [NCIT:C96406]
xref: DOID:8622 {source="MONDO:equivalentTo"}
xref: EFO:1002025 {source="MONDO:equivalentTo"}
xref: GARD:0003434 {source="MONDO:equivalentTo"}
xref: ICD10:B05 {source="DOID:8622", source="MONDO:equivalentTo"}
xref: ICD10:B05.9 {source="DOID:8622"}
xref: ICD9:055 {source="DOID:8622"}
xref: MESH:D008457 {source="DOID:8622", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C96406 {source="DOID:8622", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:14189004 {source="DOID:8622", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0025007 {source="DOID:8622", source="NCIT:C96406", source="MONDO:equivalentTo"}
is_a: MONDO:0005857 ! morbillivirus infectious disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
property_value: closeMatch http://identifiers.org/snomedct/154338006
property_value: exactMatch DOID:8622
property_value: exactMatch http://identifiers.org/mesh/D008457
property_value: exactMatch http://identifiers.org/snomedct/14189004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025007
property_value: exactMatch NCIT:C96406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3434/measles xsd:anyURI {source="GARD:0003434"}

[Term]
id: MONDO:0004620
name: Hodgkin's lymphoma, lymphocytic depletion
def: "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" [NCIT:P378]
synonym: "adult HDLD" EXACT [NCIT:C9125]
synonym: "adult LDHD" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depleted classical Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depleted Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depleted Hodgkin's lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depletion Hodgkin's disease" EXACT [NCIT:C9125]
synonym: "Adult lymphocyte-depleted Classic Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte-depleted classical Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion NOS" RELATED EXCLUDE [DOID:8628, MTHICD9_2006:201.7]
synonym: "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites" EXACT [DOID:8628]
synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [DOID:8628]
synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9283]
xref: COHD:4041798 {source="MONDO:equivalentTo"}
xref: DOID:8628 {source="MONDO:equivalentTo"}
xref: ICD10:C81.3 {source="DOID:8628"}
xref: ICD9:201.7 {source="DOID:8628"}
xref: NCIT:C9125 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: ONCOTREE:LDCHL {source="MONDO:equivalentTo"}
xref: SCTID:118610003 {source="DOID:8628", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004952 {source="DOID:8628", source="MONDOLEX:0004620", source="NCIT:C9125/inferred", source="ONCOTREE:LDCHL/inferred"} ! Hodgkins lymphoma
property_value: closeMatch http://identifiers.org/snomedct/112687003
property_value: closeMatch http://identifiers.org/snomedct/134177009
property_value: closeMatch http://identifiers.org/snomedct/188584004
property_value: closeMatch http://identifiers.org/snomedct/188594009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279540
property_value: closeMatch NCIT:C9283
property_value: exactMatch DOID:8628
property_value: exactMatch http://identifiers.org/snomedct/118610003
property_value: exactMatch NCIT:C9125

[Term]
id: MONDO:0004621
name: upper lip cancer
def: "A malignant neoplasm involving the upper lip." [MONDO:DesignPattern]
synonym: "cancer of upper lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of upper lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant upper lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "upper lip cancer" EXACT [MONDO:patterns/location]
xref: DOID:8630 {source="MONDO:equivalentTo"}
xref: ICD10:C00.0 {source="DOID:8630"}
xref: ICD10:C00.3 {source="DOID:8630"}
xref: ICD9:140.0 {source="DOID:8630"}
xref: ICD9:140.3 {source="DOID:8630"}
is_a: MONDO:0006834 {source="DOID:8630", source="MONDO:Redundant", source="MONDOLEX:0004621"} ! lip cancer
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/snomedct/187600004
property_value: closeMatch http://identifiers.org/snomedct/187601000
property_value: closeMatch http://identifiers.org/snomedct/187602007
property_value: closeMatch http://identifiers.org/snomedct/187606005
property_value: closeMatch http://identifiers.org/snomedct/187607001
property_value: closeMatch http://identifiers.org/snomedct/187609003
property_value: closeMatch http://identifiers.org/snomedct/187610008
property_value: closeMatch http://identifiers.org/snomedct/187611007
property_value: closeMatch http://identifiers.org/snomedct/363372009
property_value: closeMatch http://identifiers.org/snomedct/93837005
property_value: closeMatch http://identifiers.org/snomedct/94137004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474962
property_value: exactMatch DOID:8630

[Term]
id: MONDO:0004622
name: chronic intestinal vascular insufficiency
synonym: "chronic mesenteric ischemia" EXACT [DOID:8633, MTH:NOCODE]
synonym: "CMI - chronic mesenteric ischaemia" EXACT [DOID:8633]
xref: DOID:8633 {source="MONDO:equivalentTo"}
xref: ICD9:557.1 {source="DOID:8633", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:111354009 {source="DOID:8633", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20"}
xref: UMLS:C0311262 {source="DOID:8633", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:8633", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://identifiers.org/snomedct/197005008
property_value: closeMatch http://identifiers.org/snomedct/197008005
property_value: closeMatch http://identifiers.org/snomedct/241154007
property_value: closeMatch http://identifiers.org/snomedct/266448009
property_value: exactMatch DOID:8633
property_value: exactMatch http://identifiers.org/snomedct/111354009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311262

[Term]
id: MONDO:0004623
name: obsolete prostate carcinoma in situ
is_obsolete: true
replaced_by: MONDO:0006234

[Term]
id: MONDO:0004624
name: uvula cancer
def: "A malignant neoplasm involving the palatine uvula." [MONDO:DesignPattern]
synonym: "cancer of palatine uvula" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of palatine uvula" EXACT [MONDO:patterns/cancer]
synonym: "malignant palatine uvula neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of uvula" EXACT [DOID:8635]
synonym: "malignant uvula neoplasm" EXACT [NCIT:C35177]
synonym: "malignant uvula tumor" EXACT [NCIT:C35177]
synonym: "malignant uvula tumour" EXACT [NCIT:C35177]
synonym: "malignant uvular neoplasm" EXACT [NCIT:C35177]
synonym: "malignant uvular tumor" EXACT [DOID:8635, NCIT:C35177]
synonym: "malignant uvular tumour" EXACT [NCIT:C35177]
synonym: "palatine uvula cancer" EXACT [MONDO:patterns/location]
xref: DOID:8635 {source="MONDO:equivalentTo"}
xref: ICD10:C05.2 {source="DOID:8635"}
xref: ICD9:145.4 {source="DOID:8635", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35177 {source="DOID:8635", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:363389001 {source="DOID:8635", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153377 {source="DOID:8635", source="NCIT:C35177", source="MONDO:equivalentTo"}
is_a: MONDO:0004611 {source="DOID:8635", source="MONDO:Redundant", source="NCIT:C35177", source="linkedlifedata"} ! soft palate cancer
property_value: closeMatch http://identifiers.org/snomedct/94129007
property_value: exactMatch DOID:8635
property_value: exactMatch http://identifiers.org/snomedct/363389001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153377
property_value: exactMatch NCIT:C35177

[Term]
id: MONDO:0004625
name: phlebitis
def: "Inflammation of a vein." [NCIT:P378]
synonym: "inflammation of vein" EXACT []
synonym: "vein inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:864 {source="MONDO:equivalentTo"}
xref: EFO:1001395 {source="MONDO:equivalentTo"}
xref: ICD10:I80 {source="DOID:864"}
xref: MESH:D010689 {source="DOID:864", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C38003 {source="DOID:864", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:61599003 {source="DOID:864", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0004634 {source="DOID:864", source="MONDO:Redundant", source="linkedlifedata"} ! vein disease
is_a: MONDO:0018882 ! vasculitis
property_value: closeMatch http://identifiers.org/snomedct/195432009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031542
property_value: exactMatch DOID:864
property_value: exactMatch http://identifiers.org/mesh/D010689
property_value: exactMatch http://identifiers.org/snomedct/61599003
property_value: exactMatch NCIT:C38003

[Term]
id: MONDO:0004626
name: Hodgkin's paragranuloma
synonym: "Hodgkin paragranuloma" EXACT [DOID:8642]
xref: DOID:8642 {source="MONDO:equivalentTo"}
xref: NCIT:C26956 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
is_a: MONDO:0004952 {source="DOID:8642", source="NCIT:C27809-antiquated"} ! Hodgkins lymphoma
property_value: exactMatch DOID:8642
property_value: exactMatch NCIT:C26956

[Term]
id: MONDO:0004627
name: duodenitis
def: "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." [NCIT:P378]
synonym: "duodenitis" EXACT []
synonym: "duodenum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "hemorrhagic duodenitis" NARROW [DOID:8643, MTH:NOCODE]
synonym: "inflammation of duodenum" EXACT []
xref: COHD:433516 {source="MONDO:equivalentTo"}
xref: DOID:8643 {source="MONDO:equivalentTo"}
xref: ICD10:K29.8 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: ICD9:535.6 {source="DOID:8643"}
xref: ICD9:535.60 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004382 {source="DOID:8643", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94409 {source="DOID:8643", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:72007001 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: UMLS:C0013298 {source="DOID:8643", source="MONDO:equivalentTo", source="NCIT:C94409"}
is_a: MONDO:0002866 {source="MESH:D004382", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! duodenal disease
is_a: MONDO:0043579 ! enteritis
property_value: closeMatch http://identifiers.org/snomedct/155715004
property_value: exactMatch DOID:8643
property_value: exactMatch http://identifiers.org/mesh/D004382
property_value: exactMatch http://identifiers.org/snomedct/72007001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013298
property_value: exactMatch NCIT:C94409

[Term]
id: MONDO:0004628
name: gastroduodenitis
synonym: "gastritis and duodenitis" RELATED []
synonym: "gastroduodenitis" EXACT []
synonym: "peptic ulcer gastroduodenitis" RELATED [DOID:8644]
xref: DOID:8644 {source="MONDO:equivalentTo"}
xref: ICD9:535.4 {source="DOID:8644"}
xref: ICD9:535.50 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:196731005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267166 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001126 ! gastric ulcer (disease)
is_a: MONDO:0004966 {source="MONDO:Redundant", source="MONDOLEX:0004628", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
is_a: MONDO:0024415 ! hemorrhagic duodenitis
property_value: closeMatch http://identifiers.org/snomedct/196737009
property_value: closeMatch http://identifiers.org/snomedct/196742001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029800
property_value: exactMatch DOID:8644
property_value: exactMatch http://identifiers.org/snomedct/196731005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267166

[Term]
id: MONDO:0004629
name: subacute delirium
xref: COHD:379779 {source="MONDO:equivalentTo"}
xref: DOID:8645 {source="MONDO:equivalentTo"}
xref: ICD9:293.1 {source="DOID:8645", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:191507002 {source="DOID:8645", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0045057 {source="linkedlifedata"} ! delirium
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:8645"} ! substance-induced psychosis
property_value: closeMatch http://identifiers.org/snomedct/191513006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154333
property_value: exactMatch DOID:8645
property_value: exactMatch http://identifiers.org/snomedct/191507002

[Term]
id: MONDO:0004630
name: substance-induced psychosis
xref: DOID:8646 {source="MONDO:equivalentTo"}
xref: ICD9:293.89 {source="DOID:8646"}
is_a: MONDO:0005485 {source="DOID:8646", source="MONDO:cjm", source="MONDOLEX:0004630"} ! psychotic disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154334
property_value: exactMatch DOID:8646

[Term]
id: MONDO:0004631
name: tongue cancer
def: "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." [NCIT:C9345]
subset: gard_rare {source="GARD:0007779"}
synonym: "cancer of tongue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anterior 2/3 of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of anterior two-thirds of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of anterior two-thirds of tongue, part unspecified" NARROW [DOID:8649]
synonym: "malignant neoplasm of base of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of border of tongue" NARROW [DOID:8649, MTH:U001371]
synonym: "malignant neoplasm of dorsal surface of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of dorsal tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of dorsal tongue NOS" NARROW [DOID:8649, MTHICD9_2006:141.1]
synonym: "malignant neoplasm of dorsum of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of fixed part of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of fixed part of tongue NOS" NARROW [DOID:8649, MTHICD9_2006:141.0]
synonym: "malignant neoplasm of junctional zone of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of lingual tonsil" RELATED DUBIOUS [DOID:8649]
synonym: "malignant neoplasm of mobile part of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of mobile part of tongue NOS" NARROW [DOID:8649, MTHICD9_2006:141.4]
synonym: "malignant neoplasm of other sites of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of the tongue" NARROW [NCIT:C9345]
synonym: "malignant neoplasm of tip and lateral border of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of tip and/or lateral border of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of tongue" EXACT [DOID:8649, ICD9CM_2006:141, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9345]
synonym: "malignant neoplasm of tongue NOS" NARROW [DOID:8649, MTHICD9_2006:141.9]
synonym: "malignant neoplasm of tongue, NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of tongue, tip and lateral border" NARROW [DOID:8649]
synonym: "malignant neoplasm of ventral surface of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of ventral tongue surface" NARROW [DOID:8649]
synonym: "malignant tongue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9345]
synonym: "malignant tongue tumor" EXACT [NCIT:C9345]
synonym: "malignant tumor of anterior two-thirds of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of base of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of lingual tonsil" NARROW DUBIOUS [DOID:8649, MTH:U001010]
synonym: "malignant tumor of lingual tonsil (disorder)" RELATED DUBIOUS [DOID:8649]
synonym: "malignant tumor of mobile part of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of posterior tongue" NARROW [DOID:8649, NCIT:C3524]
synonym: "malignant tumor of the tongue" EXACT [NCIT:C9345]
synonym: "malignant tumor of tongue" EXACT [NCIT:C9345]
synonym: "tongue cancer" EXACT [MONDO:patterns/location]
synonym: "tongue carcinoma" RELATED [GARD:0007779]
synonym: "tongue neoplasm malignant" EXACT [DOID:8649]
synonym: "tongue neoplasm malignant stage unspecified" NARROW [DOID:8649, NCIT:C9345]
synonym: "tongue neoplasm, malignant" EXACT [NCIT:C9345]
xref: COHD:440655 {source="MONDO:equivalentTo"}
xref: DOID:8649 {source="MONDO:equivalentTo"}
xref: GARD:0007779 {source="MONDO:equivalentTo"}
xref: ICD10:C01 {source="DOID:8649"}
xref: ICD10:C02.0 {source="DOID:8649"}
xref: ICD10:C02.1 {source="DOID:8649"}
xref: ICD10:C02.2 {source="DOID:8649"}
xref: ICD10:C02.4 {source="DOID:8649"}
xref: ICD10:C02.9 {source="DOID:8649"}
xref: ICD9:141 {source="DOID:8649"}
xref: ICD9:141.0 {source="DOID:8649"}
xref: ICD9:141.1 {source="DOID:8649"}
xref: ICD9:141.2 {source="DOID:8649"}
xref: ICD9:141.3 {source="DOID:8649"}
xref: ICD9:141.4 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:141.5 {source="DOID:8649"}
xref: ICD9:141.6 {source="DOID:8649"}
xref: ICD9:141.9 {source="DOID:8649"}
xref: MESH:D014062 {source="MONDO:equivalentTo", source="DOID:8649", source="MONDO:ontobio"}
xref: NCIT:C9345 {source="MONDO:equivalentTo", source="DOID:8649"}
xref: SCTID:363360003 {source="MONDO:kboom-pr-0.90/0.76/0.52", source="MONDO:equivalentTo"}
is_a: MONDO:0000649 ! sensory system cancer
is_a: MONDO:0005515 {source="DOID:8649", source="NCIT:C9345", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! oral cavity cancer
is_a: MONDO:0021240 {source="MONDO:Redundant", source="NCIT:C9345", source="linkedlifedata", source="linkedlifedata/inferred"} ! tongue neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187632004
property_value: closeMatch http://identifiers.org/snomedct/187633009
property_value: closeMatch http://identifiers.org/snomedct/187636001
property_value: closeMatch http://identifiers.org/snomedct/187637005
property_value: closeMatch http://identifiers.org/snomedct/187638000
property_value: closeMatch http://identifiers.org/snomedct/187642002
property_value: closeMatch http://identifiers.org/snomedct/187644001
property_value: closeMatch http://identifiers.org/snomedct/187646004
property_value: closeMatch http://identifiers.org/snomedct/363375006
property_value: closeMatch http://identifiers.org/snomedct/363376007
property_value: closeMatch http://identifiers.org/snomedct/363377003
property_value: closeMatch http://identifiers.org/snomedct/371974006
property_value: closeMatch http://identifiers.org/snomedct/93687001
property_value: closeMatch http://identifiers.org/snomedct/93773005
property_value: closeMatch http://identifiers.org/snomedct/93848003
property_value: closeMatch http://identifiers.org/snomedct/93868009
property_value: closeMatch http://identifiers.org/snomedct/94100005
property_value: closeMatch http://identifiers.org/snomedct/94101009
property_value: closeMatch http://identifiers.org/snomedct/94134006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153349
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153350
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153351
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153356
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474963
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496755
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0684333
property_value: closeMatch NCIT:C3524
property_value: exactMatch DOID:8649
property_value: exactMatch http://identifiers.org/mesh/D014062
property_value: exactMatch http://identifiers.org/snomedct/363360003
property_value: exactMatch NCIT:C9345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer xsd:anyURI {source="GARD:0007779"}

[Term]
id: MONDO:0004632
name: obsolete Hodgkin's granuloma
def: "An obsolete term referring to Hodgkin lymphoma." [NCIT:C6914]
synonym: "Hodgkin granuloma" EXACT [DOID:8651]
synonym: "Hodgkin's granuloma" EXACT [DOID:8651, NCIT:C6914]
synonym: "Hodgkin's granuloma of unspecified site" EXACT [DOID:8651]
synonym: "Hodgkin's granuloma, unspecified site, extranodal and solid organ sites" EXACT [DOID:8651]
xref: COHD:4041797 {source="MONDO:obsoleteEquivalent"}
xref: DOID:8651 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:C81 {source="DOID:8651"}
xref: ICD10:C81.0 {source="DOID:8651"}
xref: ICD10:C81.2 {source="DOID:8651"}
xref: ICD10:C81.3 {source="DOID:8651"}
xref: ICD10:C81.4 {source="DOID:8651"}
xref: ICD10:C81.9 {source="DOID:8651"}
xref: ICD9:201 {source="DOID:8651"}
xref: ICD9:201.0 {source="DOID:8651"}
xref: ICD9:201.1 {source="DOID:8651"}
xref: ICD9:201.2 {source="DOID:8651"}
xref: ICD9:201.4 {source="DOID:8651"}
xref: ICD9:201.6 {source="DOID:8651"}
xref: ICD9:201.7 {source="DOID:8651"}
xref: ICD9:201.9 {source="DOID:8651"}
xref: ICDO:9661/3 {source="NCIT:C6914"}
xref: NCIT:C6914 {source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8651"}
xref: SCTID:118602004 {source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-1.00/0.79/8.56", source="DOID:8651"}
relationship: excluded_subClassOf MONDO:0004952 {source="DOID:8651"} ! Hodgkins lymphoma
property_value: closeMatch http://identifiers.org/snomedct/112687003
property_value: closeMatch http://identifiers.org/snomedct/118599009
property_value: closeMatch http://identifiers.org/snomedct/118605002
property_value: closeMatch http://identifiers.org/snomedct/118606001
property_value: closeMatch http://identifiers.org/snomedct/128799007
property_value: closeMatch http://identifiers.org/snomedct/134177009
property_value: closeMatch http://identifiers.org/snomedct/14537002
property_value: closeMatch http://identifiers.org/snomedct/154582001
property_value: closeMatch http://identifiers.org/snomedct/188521005
property_value: closeMatch http://identifiers.org/snomedct/188522003
property_value: closeMatch http://identifiers.org/snomedct/188532005
property_value: closeMatch http://identifiers.org/snomedct/188533000
property_value: closeMatch http://identifiers.org/snomedct/188542007
property_value: closeMatch http://identifiers.org/snomedct/188543002
property_value: closeMatch http://identifiers.org/snomedct/188552006
property_value: closeMatch http://identifiers.org/snomedct/188553001
property_value: closeMatch http://identifiers.org/snomedct/188563009
property_value: closeMatch http://identifiers.org/snomedct/188574000
property_value: closeMatch http://identifiers.org/snomedct/188583005
property_value: closeMatch http://identifiers.org/snomedct/188584004
property_value: closeMatch http://identifiers.org/snomedct/188594009
property_value: closeMatch http://identifiers.org/snomedct/188595005
property_value: closeMatch http://identifiers.org/snomedct/188596006
property_value: closeMatch http://identifiers.org/snomedct/188605006
property_value: closeMatch http://identifiers.org/snomedct/189987006
property_value: closeMatch http://identifiers.org/snomedct/189988001
property_value: closeMatch http://identifiers.org/snomedct/189991001
property_value: closeMatch http://identifiers.org/snomedct/189992008
property_value: closeMatch http://identifiers.org/snomedct/269509006
property_value: closeMatch http://identifiers.org/snomedct/309831004
property_value: closeMatch http://identifiers.org/snomedct/41529000
property_value: closeMatch http://identifiers.org/snomedct/46923007
property_value: closeMatch http://identifiers.org/snomedct/52337003
property_value: closeMatch http://identifiers.org/snomedct/59668005
property_value: closeMatch http://identifiers.org/snomedct/70600005
property_value: closeMatch http://identifiers.org/snomedct/74189002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019829
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152266
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220597
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334626
property_value: closeMatch NCIT:C7702
property_value: closeMatch NCIT:C9283
property_value: exactMatch DOID:8651
property_value: exactMatch http://identifiers.org/snomedct/118602004
property_value: exactMatch NCIT:C6914
is_obsolete: true
replaced_by: MONDO:0004952

[Term]
id: MONDO:0004633
name: Hodgkin's lymphoma, mixed cellularity
def: "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" [NCIT:C3517]
synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [DOID:8654]
synonym: "Hodgkin's disease mixed cellularity" EXACT [NCIT:C3517]
synonym: "Hodgkin's disease, mixed cellularity" RELATED [DOID:8654]
synonym: "Hodgkin's disease, mixed cellularity of unspecified site" EXACT [DOID:8654]
synonym: "Hodgkin's lymphoma mixed cellularity" EXACT [NCIT:C3517]
synonym: "MCCHL" EXACT [NCIT:C3517]
synonym: "MCHL" EXACT [DOID:8654, NCIT:C3517]
synonym: "Mixed cellularity Classic Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity classical Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517]
xref: COHD:4038843 {source="MONDO:equivalentTo"}
xref: DOID:8654 {source="MONDO:equivalentTo"}
xref: ICD10:C81.2 {source="DOID:8654"}
xref: ICD9:201.6 {source="DOID:8654"}
xref: ICDO:9652/3 {source="NCIT:C3517"}
xref: NCIT:C3517 {source="DOID:8654", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: ONCOTREE:MCCHL {source="MONDO:equivalentTo"}
xref: SCTID:118609008 {source="DOID:8654", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0009348 {source="MONDOLEX:0004633", source="NCIT:C3517", source="ONCOTREE:MCCHL"} ! classic Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/188574000
property_value: closeMatch http://identifiers.org/snomedct/188583005
property_value: closeMatch http://identifiers.org/snomedct/41529000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152266
property_value: exactMatch DOID:8654
property_value: exactMatch http://identifiers.org/snomedct/118609008
property_value: exactMatch NCIT:C3517

[Term]
id: MONDO:0004634
name: vein disease
def: "A disease involving the vein." [MONDO:DesignPattern]
synonym: "disease of vein" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vein" EXACT []
synonym: "disorder of vein" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vein" RELATED [MONDO:patterns/location_top]
synonym: "vein disease" EXACT [MONDO:patterns/location]
synonym: "vein disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:866 {source="MONDO:equivalentTo"}
xref: ICD10:I82 {source="DOID:866"}
xref: ICD9:453 {source="DOID:866"}
xref: SCTID:90507008 {source="MONDO:equivalentTo"}
xref: UMLS:C0235522 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="DOID:866", source="MONDO:Redundant", source="linkedlifedata"} ! vascular disease
property_value: closeMatch http://identifiers.org/snomedct/195435006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155774
property_value: exactMatch DOID:866
property_value: exactMatch http://identifiers.org/snomedct/90507008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235522

[Term]
id: MONDO:0004635
name: postcricoid region cancer
def: "A primary or metastatic malignant neoplasm that affects the postcricoid region." [NCIT:P378]
synonym: "malignant neoplasm of postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant neoplasm of the postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant postcricoid neoplasm" EXACT [NCIT:C9323]
synonym: "malignant postcricoid tumor" EXACT [DOID:8660, NCIT:C9323]
synonym: "malignant tumor of pharyngoesophageal junction" EXACT [DOID:8660]
synonym: "malignant tumor of postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant tumor of the postcricoid area" EXACT [NCIT:C9323]
xref: DOID:8660 {source="MONDO:equivalentTo"}
xref: ICD10:C13.0 {source="DOID:8660"}
xref: ICD9:148.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8660"}
xref: NCIT:C9323 {source="MONDO:kboom-pr-1.00/0.84/14.63", source="MONDO:equivalentTo", source="DOID:8660"}
xref: SCTID:363400004 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo", source="DOID:8660"}
xref: UMLS:C0496769 {source="NCIT:C9323", source="MONDO:equivalentTo", source="DOID:8660"}
is_a: MONDO:0005806 {source="DOID:8660", source="NCIT:C9323"} ! hypopharynx cancer
property_value: closeMatch http://identifiers.org/snomedct/93967000
property_value: exactMatch DOID:8660
property_value: exactMatch http://identifiers.org/snomedct/363400004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496769
property_value: exactMatch NCIT:C9323

[Term]
id: MONDO:0004636
name: lip carcinoma in situ
def: "A in situ carcinoma that involves the lip." [MONDO:patterns/location]
synonym: "carcinoma in situ of lip" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the Lip" EXACT [NCIT:C4588]
synonym: "lip in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 cancer of Lip" EXACT [NCIT:C4588]
synonym: "stage 0 cancer of the Lip" EXACT [NCIT:C4588]
synonym: "stage 0 carcinoma of Lip" EXACT [NCIT:C4588]
synonym: "stage 0 carcinoma of the Lip" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v6" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v6 and v7" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v7" EXACT [NCIT:C4588]
synonym: "stage 0 lip carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8661 {source="MONDO:equivalentTo"}
xref: ICD10:D00.0 {source="DOID:8661"}
xref: ICD9:230.0 {source="DOID:8661"}
xref: NCIT:C4588 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo"}
xref: SCTID:92643000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0347082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4588"}
xref: UMLS:C4316815 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000371 ! oral cavity carcinoma in situ
is_a: MONDO:0021333 {source="MONDO:Redundant", source="NCIT:C4588"} ! carcinoma of lip
property_value: closeMatch http://identifiers.org/snomedct/189210009
property_value: closeMatch http://identifiers.org/snomedct/189213006
property_value: closeMatch http://identifiers.org/snomedct/271325000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154058
property_value: exactMatch DOID:8661
property_value: exactMatch http://identifiers.org/snomedct/92643000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4316815
property_value: exactMatch NCIT:C4588

[Term]
id: MONDO:0004637
name: aryepiglottic fold cancer
def: "A malignant neoplasm involving the aryepiglottic fold." [MONDO:DesignPattern]
synonym: "aryepiglottic fold cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of aryepiglottic fold" EXACT [MONDO:patterns/cancer]
synonym: "malignant aryepiglottic fold neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of aryepiglottic fold" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [DOID:8663]
synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT [DOID:8663]
xref: DOID:8663 {source="MONDO:equivalentTo"}
xref: ICD10:C13.1 {source="MONDO:equivalentTo", source="DOID:8663"}
xref: ICD9:148.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:8663"}
xref: SCTID:187708004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:8663"}
is_a: MONDO:0002352 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! larynx cancer
is_a: MONDO:0005806 {source="DOID:8663", source="ICD10:C13.1"} ! hypopharynx cancer
property_value: closeMatch http://identifiers.org/snomedct/93829002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153401
property_value: exactMatch DOID:8663
property_value: exactMatch http://identifiers.org/snomedct/187708004

[Term]
id: MONDO:0004638
name: lymphosarcoma
def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." [NCIT:C26919]
subset: gard_rare {source="GARD:0006946"}
synonym: "diffuse lymphoma" EXACT [DOID:8675, MTHICD9_2006:202.8]
synonym: "lymphosarcoma" EXACT [NCIT:C26919]
synonym: "malignant lymphoma" EXACT EXCLUDE [DOID:8675]
synonym: "malignant lymphoma (category)" RELATED [DOID:8675]
xref: COHD:200662 {source="MONDO:equivalentTo"}
xref: DOID:8675 {source="MONDO:equivalentTo"}
xref: GARD:0006946 {source="MONDO:equivalentTo"}
xref: ICD10:C85.0 {source="MONDO:equivalentTo"}
xref: ICD10:C85.9 {source="DOID:8675"}
xref: ICD9:200.0 {source="DOID:8675"}
xref: ICD9:200.1 {source="DOID:8675"}
xref: ICD9:200.10 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:200.7 {source="DOID:8675"}
xref: NCIT:C26919 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:8675"}
xref: SCTID:188498009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8675"}
is_a: MONDO:0000612 {source="DOID:8675"} ! lymphatic system cancer
is_a: MONDO:0018908 ! non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0005089 {source="DOID:8675"} ! sarcoma
property_value: closeMatch http://identifiers.org/snomedct/109964000
property_value: closeMatch http://identifiers.org/snomedct/118604003
property_value: closeMatch http://identifiers.org/snomedct/128929007
property_value: closeMatch http://identifiers.org/snomedct/134176000
property_value: closeMatch http://identifiers.org/snomedct/154579006
property_value: closeMatch http://identifiers.org/snomedct/154580009
property_value: closeMatch http://identifiers.org/snomedct/154583006
property_value: closeMatch http://identifiers.org/snomedct/188488003
property_value: closeMatch http://identifiers.org/snomedct/188497004
property_value: closeMatch http://identifiers.org/snomedct/188508003
property_value: closeMatch http://identifiers.org/snomedct/188675007
property_value: closeMatch http://identifiers.org/snomedct/188676008
property_value: closeMatch http://identifiers.org/snomedct/189964003
property_value: closeMatch http://identifiers.org/snomedct/189965002
property_value: closeMatch http://identifiers.org/snomedct/189982000
property_value: closeMatch http://identifiers.org/snomedct/189983005
property_value: closeMatch http://identifiers.org/snomedct/189986002
property_value: closeMatch http://identifiers.org/snomedct/190012002
property_value: closeMatch http://identifiers.org/snomedct/190168009
property_value: closeMatch http://identifiers.org/snomedct/1929004
property_value: closeMatch http://identifiers.org/snomedct/269628007
property_value: closeMatch http://identifiers.org/snomedct/271385002
property_value: closeMatch http://identifiers.org/snomedct/40152000
property_value: closeMatch http://identifiers.org/snomedct/63086004
property_value: closeMatch http://identifiers.org/snomedct/67824002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024304
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024306
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079734
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079740
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079741
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079747
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079757
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714542
property_value: closeMatch NCIT:C3210
property_value: closeMatch NCIT:C3458
property_value: closeMatch NCIT:C3459
property_value: closeMatch NCIT:C3462
property_value: closeMatch NCIT:C3463
property_value: exactMatch DOID:8675
property_value: exactMatch http://identifiers.org/snomedct/188498009
property_value: exactMatch NCIT:C26919
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma xsd:anyURI {source="GARD:0006946"}

[Term]
id: MONDO:0004639
name: perinatal necrotizing enterocolitis
def: "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." [NCIT:C84915]
synonym: "enterocolitis necrotizing" BROAD [DOID:8677, MTH:NOCODE]
synonym: "enterocolitis, necrotizing" RELATED [GARD:0009767]
synonym: "necrotizing enterocolitis" BROAD [CSP2005:5005-0017, DOID:8677]
synonym: "necrotizing enterocolitis in fetus or newborn" EXACT [DOID:8677]
synonym: "perinatal necrotising enterocolitis" EXACT [DOID:8677]
synonym: "pseudomembranous enterocolitis in newborn" EXACT [DOID:8677, MTHICD9_2006:777.5]
xref: DOID:8677 {source="MONDO:equivalentTo"}
xref: GARD:0009767 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: SCTID:397729009 {source="DOID:8677", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.77/1.07"}
is_a: MONDO:0005313 {source="MONDOLEX:0004639", source="linkedlifedata"} ! necrotizing enterocolitis
property_value: closeMatch http://identifiers.org/snomedct/51180003
property_value: exactMatch DOID:8677
property_value: exactMatch http://identifiers.org/snomedct/397729009

[Term]
id: MONDO:0004640
name: alcoholic gastritis
def: "Inflammation of the stomach resulting from alcohol ingestion." [NCIT:C26977]
synonym: "alcoholic gastritis" EXACT [DOID:8680, NCIT:C26977]
synonym: "alcoholic gastritis, with hemorrhage" EXACT [DOID:8680]
synonym: "alcoholic gastritis, without mention of hemorrhage" EXACT [DOID:8680]
xref: COHD:195300 {source="MONDO:equivalentTo"}
xref: DOID:8680 {source="MONDO:equivalentTo"}
xref: ICD10:K29.2 {source="MONDO:equivalentTo", source="DOID:8680"}
xref: ICD9:535.3 {source="DOID:8680"}
xref: ICD9:535.30 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26977 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8680"}
xref: SCTID:2043009 {source="MONDO:equivalentTo", source="DOID:8680", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156076 {source="MONDO:equivalentTo", source="DOID:8680", source="NCIT:C26977"}
is_a: MONDO:0004966 {source="DOID:8680", source="MONDO:Redundant", source="MONDOLEX:0004640", source="NCIT:C26977", source="linkedlifedata"} ! gastritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155714000
property_value: exactMatch DOID:8680
property_value: exactMatch http://identifiers.org/snomedct/2043009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156076
property_value: exactMatch NCIT:C26977

[Term]
id: MONDO:0004641
name: skin carcinoma in situ
def: "A in situ carcinoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "carcinoma in situ of skin" EXACT [DOID:8687, ICD9CM_2006:232, NCIT:C3640]
synonym: "carcinoma in situ of the skin" EXACT [NCIT:C3640]
synonym: "carcinoma in situ of zone of skin" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma of skin stage 0" EXACT [NCIT:C3640]
synonym: "carcinoma of the skin stage 0" EXACT [NCIT:C3640]
synonym: "cutaneous carcinoma in situ" EXACT [DOID:8687, NCIT:C3640]
synonym: "nonmelanoma carcinoma in situ" EXACT [NCIT:C3640]
synonym: "skin cancer stage 0" EXACT [NCIT:C3640]
synonym: "skin carcinoma in situ" EXACT [NCIT:C3640]
synonym: "skin carcinoma stage 0" EXACT [NCIT:C3640]
synonym: "stage 0 nonmelanoma skin carcinoma in situ" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer aJCC v6" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer aJCC v7" EXACT [NCIT:C3640]
synonym: "stage 0 skin carcinoma" EXACT [NCIT:C3640]
synonym: "stage 0 zone of skin carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "zone of skin carcinoma in situ" EXACT []
synonym: "zone of skin in situ carcinoma" EXACT [MONDO:patterns/location]
xref: COHD:138996 {source="MONDO:equivalentTo"}
xref: DOID:8687 {source="MONDO:equivalentTo"}
xref: ICD10:D04 {source="DOID:8687", source="MONDO:equivalentTo"}
xref: ICD10:D04.0 {source="DOID:8687"}
xref: ICD10:D04.2 {source="DOID:8687"}
xref: ICD10:D04.3 {source="DOID:8687"}
xref: ICD10:D04.4 {source="DOID:8687"}
xref: ICD10:D04.6 {source="DOID:8687"}
xref: ICD10:D04.7 {source="DOID:8687"}
xref: ICD10:D04.9 {source="DOID:8687"}
xref: ICD9:232 {source="DOID:8687"}
xref: ICD9:232.0 {source="DOID:8687"}
xref: ICD9:232.2 {source="DOID:8687"}
xref: ICD9:232.3 {source="DOID:8687"}
xref: ICD9:232.4 {source="DOID:8687"}
xref: ICD9:232.5 {source="DOID:8687"}
xref: ICD9:232.6 {source="DOID:8687"}
xref: ICD9:232.7 {source="DOID:8687"}
xref: ICD9:232.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:232.9 {source="DOID:8687", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3640 {source="DOID:8687", source="MONDO:equivalentTo"}
xref: SCTID:92749008 {source="DOID:8687", source="MONDO:kboom-pr-1.00/0.79/7.75", source="MONDO:equivalentTo"}
xref: UMLS:C0154073 {source="DOID:8687", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3640"}
is_a: MONDO:0002656 {source="MONDO:Redundant", source="MONDOLEX:0004641", source="NCIT:C3640"} ! skin carcinoma
is_a: MONDO:0004647 {source="DOID:8687", source="MONDO:Redundant", source="MONDOLEX:0004641", source="NCIT:C3640", source="linkedlifedata"} ! in situ carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189276007
property_value: closeMatch http://identifiers.org/snomedct/189278008
property_value: closeMatch http://identifiers.org/snomedct/189282005
property_value: closeMatch http://identifiers.org/snomedct/189290005
property_value: closeMatch http://identifiers.org/snomedct/189291009
property_value: closeMatch http://identifiers.org/snomedct/189294001
property_value: closeMatch http://identifiers.org/snomedct/189295000
property_value: closeMatch http://identifiers.org/snomedct/189334002
property_value: closeMatch http://identifiers.org/snomedct/190179004
property_value: closeMatch http://identifiers.org/snomedct/190181002
property_value: closeMatch http://identifiers.org/snomedct/255144005
property_value: closeMatch http://identifiers.org/snomedct/92734000
property_value: closeMatch http://identifiers.org/snomedct/92735004
property_value: closeMatch http://identifiers.org/snomedct/92747005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154074
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154077
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154078
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154079
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154080
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154081
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0347139
property_value: exactMatch DOID:8687
property_value: exactMatch http://identifiers.org/snomedct/92749008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154073
property_value: exactMatch NCIT:C3640

[Term]
id: MONDO:0004642
name: tonsillar pillar cancer
def: "A cancer that involves the tonsillar pillar." [MONDO:patterns/location]
synonym: "malignant neoplasm of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location]
synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [DOID:8688, MONDO:patterns/location, MTHICD9_2006:146.2]
synonym: "malignant tumor of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location]
synonym: "malignant tumour of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location]
xref: DOID:8688 {source="MONDO:equivalentTo"}
xref: ICD10:C09.1 {source="DOID:8688", source="MONDO:equivalentTo"}
xref: ICD9:146.2 {source="DOID:8688", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:187675005 {source="DOID:8688", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153385 {source="DOID:8688", source="MONDO:equivalentTo"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0005864 ! muscle cancer
is_a: MONDO:0006998 {source="ICD10:C09.1", source="MONDOLEX:0004642"} ! tonsil cancer
relationship: excluded_subClassOf MONDO:0004608 {source="DOID:8688"} ! oropharynx cancer
property_value: closeMatch http://identifiers.org/snomedct/187676006
property_value: closeMatch http://identifiers.org/snomedct/187679004
property_value: closeMatch http://identifiers.org/snomedct/94103007
property_value: exactMatch DOID:8688
property_value: exactMatch http://identifiers.org/snomedct/187675005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153385

[Term]
id: MONDO:0004643
name: myeloid leukemia
def: "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." [NCIT:C3172]
subset: gard_rare {source="GARD:0008226"}
synonym: "leukemia granulocytic" EXACT [NCIT:C3172]
synonym: "leukemia myelogenous" EXACT [DOID:8692, MTH:NOCODE]
synonym: "leukemia myeloid" EXACT [NCIT:C3172]
synonym: "leukemia, granulocytic, malignant" EXACT [NCIT:C3172]
synonym: "myelocytic leukemia" EXACT [NCIT:C3172]
synonym: "myelogenous leukemia" EXACT [NCIT:C3172]
synonym: "myeloid granulocytic leukemia" EXACT [CSP2005:2004-4431, DOID:8692]
synonym: "myeloid leukemia" EXACT [NCIT:C3172]
synonym: "non-lymphoblastic leukemia" EXACT [NCIT:C3172]
synonym: "non-lymphocytic leukemia" EXACT [DOID:8692, NCIT:C3172]
xref: COHD:140666 {source="MONDO:equivalentTo"}
xref: DOID:8692 {source="MONDO:equivalentTo"}
xref: GARD:0008226 {source="MONDO:equivalentTo"}
xref: ICD10:C92 {source="DOID:8692"}
xref: ICD10:C92.9 {source="DOID:8692"}
xref: ICD10:C92.90 {source="DOID:8692"}
xref: ICD9:205 {source="DOID:8692"}
xref: ICD9:205.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:205.9 {source="DOID:8692"}
xref: ICD9:205.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9860/3 {source="NCIT:C3172"}
xref: MESH:D007951 {source="MONDO:equivalentTo", source="DOID:8692"}
xref: NCIT:C3172 {source="MONDO:equivalentTo", source="DOID:8692", source="exact-label-match"}
xref: SCTID:188732008 {source="MONDO:equivalentTo", source="DOID:8692", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023470 {source="NCIT:C3172", source="MONDO:equivalentTo", source="DOID:8692"}
is_a: MONDO:0005059 {source="DOID:8692", source="MESH:D007951", source="NCIT:C3172", source="linkedlifedata"} ! leukemia (disease)
is_a: MONDO:0020076 ! myeloproliferative neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128934006
property_value: closeMatch http://identifiers.org/snomedct/154587007
property_value: closeMatch http://identifiers.org/snomedct/188743000
property_value: closeMatch http://identifiers.org/snomedct/190047005
property_value: closeMatch http://identifiers.org/snomedct/269631008
property_value: closeMatch http://identifiers.org/snomedct/324170002
property_value: closeMatch http://identifiers.org/snomedct/37810007
property_value: closeMatch http://identifiers.org/snomedct/94717009
property_value: exactMatch DOID:8692
property_value: exactMatch http://identifiers.org/mesh/D007951
property_value: exactMatch http://identifiers.org/snomedct/188732008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023470
property_value: exactMatch NCIT:C3172
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia xsd:anyURI {source="GARD:0008226"}

[Term]
id: MONDO:0004644
name: subacute monocytic leukemia
xref: COHD:313430 {source="MONDO:equivalentTo"}
xref: DOID:8696 {source="MONDO:equivalentTo"}
xref: ICD9:206.2 {source="DOID:8696"}
xref: ICD9:206.20 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:188746008 {source="MONDO:equivalentTo", source="DOID:8696", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152275 {source="MONDO:equivalentTo", source="DOID:8696"}
is_a: MONDO:0004600 {source="DOID:8696", source="linkedlifedata"} ! monocytic leukemia
property_value: closeMatch http://identifiers.org/snomedct/12834001
property_value: closeMatch http://identifiers.org/snomedct/154596007
property_value: closeMatch http://identifiers.org/snomedct/190059009
property_value: closeMatch http://identifiers.org/snomedct/95276000
property_value: exactMatch DOID:8696
property_value: exactMatch http://identifiers.org/snomedct/188746008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152275

[Term]
id: MONDO:0004645
name: cheek mucosa cancer
def: "A malignant neoplasm involving the buccal mucosa." [MONDO:DesignPattern]
synonym: "buccal mucosa cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of buccal mucosa" EXACT [MONDO:patterns/cancer]
synonym: "malignant buccal mucosa neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9320]
synonym: "malignant buccal mucosa tumor" EXACT [NCIT:C9320]
synonym: "malignant neoplasm of buccal mucosa" EXACT [DOID:8702, MONDO:patterns/cancer, NCIT:C9320]
synonym: "malignant neoplasm of cheek, inner aspect" EXACT [DOID:8702, MTHICD9_2006:145.0]
synonym: "malignant neoplasm of the buccal mucosa" EXACT [DOID:8702, NCIT:C9320]
synonym: "malignant tumor of buccal mucosa" EXACT [NCIT:C9320]
synonym: "malignant tumor of the buccal mucosa" EXACT [NCIT:C9320]
xref: DOID:8702 {source="MONDO:equivalentTo"}
xref: ICD10:C06.0 {source="DOID:8702"}
xref: ICD9:145.0 {source="DOID:8702", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9320 {source="DOID:8702", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:363386008 {source="DOID:8702", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153373 {source="NCIT:C9320", source="DOID:8702", source="MONDO:equivalentTo"}
is_a: MONDO:0005515 {source="DOID:8702", source="NCIT:C9320", source="linkedlifedata"} ! oral cavity cancer
is_a: MONDO:0021241 {source="MONDO:Redundant", source="NCIT:C9320", source="linkedlifedata"} ! buccal mucosa neoplasm
property_value: closeMatch http://identifiers.org/snomedct/93735006
property_value: exactMatch DOID:8702
property_value: exactMatch http://identifiers.org/snomedct/363386008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153373
property_value: exactMatch NCIT:C9320

[Term]
id: MONDO:0004646
name: decubitus ulcer
def: "Death of tissue due to external pressure." [NCIT:P378]
synonym: "bedsore" RELATED [DOID:8717]
synonym: "decubitus (pressure) ulcer" EXACT [DOID:8717]
synonym: "decubitus ulcer" EXACT [DOID:8717]
synonym: "decubitus ulcer any site" EXACT [DOID:8717, MTHICD9_2006:707.0]
synonym: "decubitus ulcer, elbow" EXACT [DOID:8717]
synonym: "decubitus ulcer, lower back" EXACT [DOID:8717]
synonym: "decubitus ulcer, other site" EXACT [DOID:8717]
synonym: "decubitus ulcer, upper back" EXACT [DOID:8717]
synonym: "pressure sores" EXACT [DOID:8717, MTH:U000022]
synonym: "pressure ulcer" EXACT [CSP2005:2718-0434, DOID:8717]
xref: COHD:135333 {source="MONDO:equivalentTo"}
xref: DOID:8717 {source="MONDO:equivalentTo"}
xref: EFO:0007067 {source="MONDO:equivalentTo"}
xref: ICD10:L89 {source="DOID:8717"}
xref: ICD10:L89.9 {source="DOID:8717"}
xref: ICD9:707.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8717"}
xref: ICD9:707.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:8717"}
xref: MESH:D003668 {source="MONDO:equivalentTo", source="DOID:8717", source="MONDO:ontobio"}
xref: SCTID:399912005 {source="MONDO:equivalentTo", source="DOID:8717", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0011127 {source="MONDO:equivalentTo", source="DOID:8717"}
is_a: MONDO:0004605 {source="DOID:8717", source="EFO:0007067", source="linkedlifedata"} ! chronic ulcer of skin
property_value: closeMatch http://identifiers.org/snomedct/142668003
property_value: closeMatch http://identifiers.org/snomedct/156424003
property_value: closeMatch http://identifiers.org/snomedct/165258002
property_value: closeMatch http://identifiers.org/snomedct/201248003
property_value: closeMatch http://identifiers.org/snomedct/28103007
property_value: closeMatch http://identifiers.org/snomedct/400192002
property_value: closeMatch http://identifiers.org/snomedct/418172001
property_value: closeMatch http://identifiers.org/snomedct/420226006
property_value: closeMatch http://identifiers.org/snomedct/90144002
property_value: exactMatch DOID:8717
property_value: exactMatch http://identifiers.org/mesh/D003668
property_value: exactMatch http://identifiers.org/snomedct/399912005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011127
property_value: exactMatch NCIT:C50706

[Term]
id: MONDO:0004647
name: in situ carcinoma
def: "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:C2917]
comment: Editor note: check pre-malignant vs malignant
synonym: "carcinoma in situ" EXACT [NCIT:C2917]
synonym: "carcinoma, in situ, malignant" EXACT [NCIT:C2917]
synonym: "CIS" BROAD [NCIT:C2917]
synonym: "epithelial tumor, in situ, malignant" EXACT [NCIT:C2917]
synonym: "intraepithelial carcinoma" EXACT [NCIT:C2917]
synonym: "non-invasive carcinoma" EXACT [NCIT:C2917]
synonym: "stage 0 disease" EXACT [NCIT:C2917]
xref: COHD:433435 {source="MONDO:equivalentTo"}
xref: DOID:8719 {source="MONDO:equivalentTo"}
xref: ICD10:D09.9 {source="DOID:8719"}
xref: ICD9:230-234.99 {source="DOID:8719"}
xref: ICD9:234.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:234.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:8719"}
xref: ICDO:8010/2 {source="NCIT:C2917"}
xref: MESH:D002278 {source="MONDO:equivalentTo", source="DOID:8719", source="MONDO:ontobio"}
xref: NCIT:C2917 {source="MONDO:equivalentTo", source="DOID:8719", source="exact-label-match"}
xref: SCTID:109355002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.39/0.58", source="DOID:8719"}
xref: UMLS:C0007099 {source="MONDO:equivalentTo", source="DOID:8719"}
is_a: MONDO:0004993 {source="MESH:D002278", source="MONDO:Redundant", source="MONDOLEX:0004647", source="NCIT:C2917"} ! carcinoma
is_a: MONDO:0020665 ! high grade malignant neoplasm
is_a: MONDO:0021074 {source="MONDO:Redundant", source="NCIT:C2917", source="indirect"} ! precancerous condition
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:8719"} ! pre-malignant neoplasm
relationship: has_modifier MONDO:0024493 {source="NCIT:C2917"} ! tumor grade 3, general grading system
property_value: closeMatch http://identifiers.org/snomedct/154635000
property_value: closeMatch http://identifiers.org/snomedct/154640008
property_value: closeMatch http://identifiers.org/snomedct/189208007
property_value: closeMatch http://identifiers.org/snomedct/189359006
property_value: closeMatch http://identifiers.org/snomedct/189548003
property_value: closeMatch http://identifiers.org/snomedct/271528002
property_value: closeMatch http://identifiers.org/snomedct/399919001
property_value: closeMatch http://identifiers.org/snomedct/68956006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0851135
property_value: exactMatch DOID:8719
property_value: exactMatch http://identifiers.org/mesh/D002278
property_value: exactMatch http://identifiers.org/snomedct/109355002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007099
property_value: exactMatch NCIT:C2917

[Term]
id: MONDO:0004648
name: vascular dementia
def: "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." [NCIT:C34525]
synonym: "multi infarct dementia" NARROW [DOID:8725, MTH:NOCODE, NCIT:C34522]
synonym: "multifocal dementia" RELATED [CSP2005:0485-6862, DOID:8725]
synonym: "vascular dementia" EXACT [NCIT:C34525]
xref: DOID:8725 {source="MONDO:equivalentTo"}
xref: EFO:0004718 {source="MONDO:equivalentTo"}
xref: ICD10:F01 {source="DOID:8725"}
xref: ICD10:F01.5 {source="DOID:8725"}
xref: ICD9:290.4 {source="DOID:8725"}
xref: MESH:D015140 {source="DOID:8725", source="MONDO:equivalentTo"}
xref: NCIT:C34525 {source="DOID:8725", source="MONDO:equivalentTo"}
xref: SCTID:429998004 {source="DOID:8725", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.62"}
xref: UMLS:C0011269 {source="DOID:8725", source="MONDO:equivalentTo", source="NCIT:C34525"}
is_a: MONDO:0001627 {source="DOID:8725", source="MESH:D015140", source="NCIT:C34525", source="linkedlifedata", source="linkedlifedata/inferred"} ! dementia (disease)
is_a: MONDO:0011057 {source="MESH:D015140", source="MESH:D015140/inferred"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/154850006
property_value: closeMatch http://identifiers.org/snomedct/191462009
property_value: closeMatch http://identifiers.org/snomedct/192165000
property_value: closeMatch http://identifiers.org/snomedct/192167008
property_value: closeMatch http://identifiers.org/snomedct/192171006
property_value: closeMatch http://identifiers.org/snomedct/268613002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011263
property_value: exactMatch DOID:8725
property_value: exactMatch http://identifiers.org/mesh/D015140
property_value: exactMatch http://identifiers.org/snomedct/429998004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011269
property_value: exactMatch NCIT:C34525

[Term]
id: MONDO:0004649
name: anaerobic pneumonia
def: "A pneumonia caused by anaerobic bacteria." [MONDO:DesignPattern]
synonym: "pneumonia caused by anaerobic bacteria" RELATED []
synonym: "pneumonia due to anaerobes" EXACT [DOID:873]
synonym: "pneumonia due to anaerobic bacteria" EXACT []
xref: DOID:873 {source="MONDO:equivalentTo"}
xref: ICD9:482.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:873"}
xref: ICD9:482.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:409664000 {source="MONDO:equivalentTo"}
xref: UMLS:C1443976 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000265 {source="DOID:873"} ! aspiration pneumonia (disease)
is_a: MONDO:0004652 {source="DOID:873/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial pneumonia
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375327
property_value: exactMatch DOID:873
property_value: exactMatch http://identifiers.org/snomedct/409664000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443976

[Term]
id: MONDO:0004650
name: malignant carotid body paraganglioma
def: "A carotid body paraganglioma that metastasizes to other anatomic sites." [NCIT:C3574]
synonym: "cancer of carotid body" RELATED [DOID:8731]
synonym: "carotid body cancer" RELATED [DOID:8731]
synonym: "carotid body paraganglioma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "chemodectoma, malignant" RELATED [NCIT:C3574]
synonym: "malignant carotid body neoplasm" RELATED [NCIT:C3574]
synonym: "malignant carotid body paraganglioma" EXACT [DOID:8731, NCIT:C3574]
synonym: "malignant carotid body tumor" RELATED [NCIT:C3574]
synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [DOID:8731]
synonym: "malignant neoplasm of carotid body" RELATED [NCIT:C3574]
synonym: "malignant neoplasm of the carotid body" RELATED [NCIT:C3574]
synonym: "malignant tumor of carotid body" RELATED [NCIT:C3574]
synonym: "malignant tumor of the carotid body" RELATED [NCIT:C3574]
xref: COHD:40487047 {source="MONDO:equivalentTo"}
xref: DOID:8731 {source="MONDO:equivalentTo"}
xref: ICD10:C75.4 {source="DOID:8731", source="MONDO:equivalentTo"}
xref: ICD9:194.5 {source="DOID:8731", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3574 {source="DOID:8731", source="MONDO:equivalentTo"}
xref: SCTID:447883002 {source="DOID:8731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0153656 {source="DOID:8731", source="MONDO:equivalentTo", source="NCIT:C3574"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C3574"} ! head and neck cancer
is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C3574"} ! carotid body paraganglioma
is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C3574/inferred"} ! malignant endocrine neoplasm
is_a: MONDO:0021089 ! peripheral nervous system cancer
relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8731"} ! vascular cancer
property_value: closeMatch http://identifiers.org/snomedct/16822006
property_value: closeMatch http://identifiers.org/snomedct/188342008
property_value: closeMatch http://identifiers.org/snomedct/93740003
property_value: exactMatch DOID:8731
property_value: exactMatch http://identifiers.org/snomedct/447883002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153656
property_value: exactMatch NCIT:C3574

[Term]
id: MONDO:0004651
name: smallpox
def: "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." [NCIT:P378]
subset: gard_rare {source="GARD:0007444"}
synonym: "ordinary smallpox" EXACT [DOID:8736]
synonym: "Variola" RELATED [GARD:0007444]
synonym: "Variola virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Variola virus disease or disorder" EXACT []
synonym: "Variola virus infectious disease" EXACT []
xref: DOID:8736 {source="MONDO:equivalentTo"}
xref: GARD:0007444 {source="MONDO:equivalentTo"}
xref: ICD10:B03 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: ICD9:050 {source="DOID:8736"}
xref: ICD9:050.9 {source="DOID:8736", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012899 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: NCIT:C35027 {source="DOID:8736", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.22"}
xref: SCTID:67924001 {source="DOID:8736", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.92"}
xref: UMLS:C0037354 {source="DOID:8736", source="MONDO:equivalentTo", source="NCIT:C35027"}
is_a: MONDO:0005108 {source="DOID:8736", source="MESH:D012899/inferred", source="MONDO:Redundant", source="NCIT:C35027", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/186505008
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:8736
property_value: exactMatch http://identifiers.org/mesh/D012899
property_value: exactMatch http://identifiers.org/snomedct/67924001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037354
property_value: exactMatch NCIT:C35027
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7444/smallpox xsd:anyURI {source="GARD:0007444"}

[Term]
id: MONDO:0004652
name: bacterial pneumonia
def: "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." [NCIT:P378]
synonym: "Bacteria caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria pneumonia" EXACT []
synonym: "gram-negative pneumonia" EXACT [DOID:874]
synonym: "pneumonia due to other gram-negative bacteria" EXACT [DOID:874, ICD9CM_2006:482.83]
xref: COHD:257315 {source="MONDO:equivalentTo"}
xref: DOID:874 {source="MONDO:equivalentTo"}
xref: EFO:1001272 {source="MONDO:equivalentTo"}
xref: ICD10:J15.9 {source="DOID:874"}
xref: ICD9:482.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:482.9 {source="DOID:874", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D018410 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26704 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:53084003 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.42"}
xref: UMLS:C0004626 {source="DOID:874", source="MONDO:equivalentTo", source="NCIT:C26704"}
is_a: MONDO:0005113 {source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
is_a: MONDO:0005249 {source="DOID:874", source="EFO:1001272", source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia
property_value: closeMatch http://identifiers.org/snomedct/155553007
property_value: closeMatch http://identifiers.org/snomedct/195891009
property_value: closeMatch http://identifiers.org/snomedct/195892002
property_value: exactMatch DOID:874
property_value: exactMatch http://identifiers.org/mesh/D018410
property_value: exactMatch http://identifiers.org/snomedct/53084003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004626
property_value: exactMatch NCIT:C26704

[Term]
id: MONDO:0004653
name: atypical chronic myeloid leukemia, BCR-ABL1 negative
def: "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" [NCIT:C3519]
synonym: "aCML" EXACT [NCIT:C3519]
synonym: "atypical chronic myeloid leukemia" EXACT [NCIT:C3519]
synonym: "atypical chronic myeloid leukemia, BCR-ABL1 Negative" EXACT [NCIT:C3519]
synonym: "atypical CML" EXACT [DOID:8747, NCIT:C3519]
synonym: "subacute granulocytic leukemia" EXACT [NCIT:C3519]
synonym: "subacute myelogenous leukemia" EXACT [NCIT:C3519]
synonym: "subacute myeloid leukemia" EXACT [NCIT:C3519]
xref: COHD:135499 {source="MONDO:equivalentTo"}
xref: DOID:8747 {source="MONDO:equivalentTo"}
xref: ICDO:9876/3 {source="NCIT:C3519"}
xref: NCIT:C3519 {source="MONDO:equivalentTo"}
xref: SCTID:277589003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004643 {source="DOID:8747", source="MONDOLEX:0004653"} ! myeloid leukemia
is_a: MONDO:0006311 {source="NCIT:C3519"} ! myelodysplastic/myeloproliferative Neoplasm
property_value: closeMatch http://identifiers.org/snomedct/95278004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153889
property_value: exactMatch DOID:8747
property_value: exactMatch http://identifiers.org/snomedct/277589003
property_value: exactMatch NCIT:C3519

[Term]
id: MONDO:0004654
name: obsolete pyomyositis
is_obsolete: true
replaced_by: MONDO:0019168

[Term]
id: MONDO:0004655
name: obsolete acute megakaryoblastic leukemia
is_obsolete: true
replaced_by: MONDO:0018872

[Term]
id: MONDO:0004656
name: rubella
def: "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." [NCIT:P378]
subset: gard_rare {source="GARD:0004742"}
synonym: "german measles" EXACT [DOID:8781]
synonym: "Rubella infection" EXACT [NCIT:C85051]
synonym: "Rubella virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rubella virus disease or disorder" EXACT []
synonym: "Rubella virus infectious disease" EXACT []
synonym: "three day measles" RELATED [GARD:0004742]
synonym: "three-Day Measles" EXACT [NCIT:C85051]
xref: DOID:8781 {source="MONDO:equivalentTo"}
xref: EFO:1002026 {source="MONDO:equivalentTo"}
xref: GARD:0004742 {source="MONDO:equivalentTo"}
xref: ICD10:B06 {source="MONDO:equivalentTo", source="DOID:8781"}
xref: ICD10:B06.9 {source="DOID:8781"}
xref: ICD9:056 {source="DOID:8781"}
xref: MESH:D012409 {source="MONDO:equivalentTo", source="DOID:8781", source="MONDO:ontobio"}
xref: NCIT:C85051 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8781"}
xref: SCTID:36653000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8781"}
xref: UMLS:C0035920 {source="NCIT:C85051", source="MONDO:equivalentTo", source="DOID:8781"}
is_a: MONDO:0005108 {source="DOID:8781", source="EFO:1002026", source="MESH:D012409/inferred", source="NCIT:C85051", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154343004
property_value: closeMatch http://identifiers.org/snomedct/266192003
property_value: exactMatch DOID:8781
property_value: exactMatch http://identifiers.org/mesh/D012409
property_value: exactMatch http://identifiers.org/snomedct/36653000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035920
property_value: exactMatch NCIT:C85051
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4742/rubella xsd:anyURI {source="GARD:0004742"}

[Term]
id: MONDO:0004657
name: disseminated chorioretinitis
xref: COHD:433762 {source="MONDO:equivalentTo"}
xref: DOID:8787 {source="MONDO:equivalentTo"}
xref: ICD10:H30.1 {source="DOID:8787"}
xref: ICD10:H30.10 {source="DOID:8787"}
xref: ICD9:363.1 {source="DOID:8787"}
xref: ICD9:363.10 {source="DOID:8787", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:78769001 {source="DOID:8787", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154879 {source="DOID:8787", source="MONDO:equivalentTo"}
is_a: MONDO:0004674 {source="DOID:8787", source="MONDO:Redundant", source="linkedlifedata"} ! chorioretinitis (disease)
intersection_of: MONDO:0004674 ! chorioretinitis (disease)
intersection_of: has_modifier MONDO:0022202 ! disseminated
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch http://identifiers.org/snomedct/193441002
property_value: closeMatch http://identifiers.org/snomedct/193447003
property_value: exactMatch DOID:8787
property_value: exactMatch http://identifiers.org/snomedct/78769001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154879

[Term]
id: MONDO:0004658
name: breast carcinoma in situ
def: "A in situ carcinoma that involves the breast." [MONDO:patterns/location]
synonym: "breast cancer in situ" EXACT [NCIT:C3641]
synonym: "breast cancer stage 0" EXACT [NCIT:C3641]
synonym: "breast carcinoma in situ" EXACT [NCIT:C3641]
synonym: "breast in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of breast" EXACT [DOID:8791, MONDO:patterns/carcinoma_in_situ, NCIT:C3641]
synonym: "carcinoma in situ of the breast" EXACT [NCIT:C3641]
synonym: "in situ breast cancer" EXACT [NCIT:C3641]
synonym: "non-infiltrating breast carcinoma" EXACT [NCIT:C3641]
synonym: "non-infiltrating carcinoma of breast" EXACT [DOID:8791, NCIT:C3641]
synonym: "non-infiltrating carcinoma of the breast" EXACT [NCIT:C3641]
synonym: "non-invasive breast carcinoma" EXACT [NCIT:C3641]
synonym: "non-invasive carcinoma of breast" EXACT [NCIT:C3641]
synonym: "non-invasive carcinoma of the breast" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v6" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v6 and v7" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v7" EXACT [NCIT:C3641]
synonym: "stage 0 breast carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3641]
synonym: "stage 0 breast carcinoma in situ" EXACT [NCIT:C3641]
synonym: "stage 0 carcinoma of breast" EXACT [NCIT:C3641]
synonym: "stage 0 carcinoma of the breast" EXACT [NCIT:C3641]
xref: COHD:81250 {source="MONDO:equivalentTo"}
xref: DOID:8791 {source="MONDO:equivalentTo"}
xref: ICD10:D05 {source="DOID:8791"}
xref: ICD10:D05.9 {source="DOID:8791"}
xref: ICD9:233.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8791"}
xref: NCIT:C3641 {source="MONDO:equivalentTo", source="DOID:8791"}
xref: SCTID:189336000 {source="MONDO:equivalentTo", source="DOID:8791", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154084 {source="MONDO:equivalentTo", source="NCIT:C3641", source="DOID:8791"}
is_a: MONDO:0004647 {source="DOID:8791", source="MONDO:Redundant", source="MONDOLEX:0004658", source="NCIT:C3641", source="linkedlifedata"} ! in situ carcinoma
is_a: MONDO:0004989 ! breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154636004
property_value: exactMatch DOID:8791
property_value: exactMatch http://identifiers.org/snomedct/189336000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154084
property_value: exactMatch NCIT:C3641

[Term]
id: MONDO:0004659
name: eye carcinoma in situ
def: "A carcinoma in situ involving a eye." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of eye" EXACT [DOID:8792, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "eye in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye carcinoma in situ" EXACT []
synonym: "stage 0 eye carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 eyeball of camera-type eye carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: COHD:373732 {source="MONDO:equivalentTo"}
xref: DOID:8792 {source="MONDO:equivalentTo"}
xref: ICD10:D09.2 {source="DOID:8792"}
xref: ICD9:234.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8792"}
xref: SCTID:92590009 {source="MONDO:equivalentTo", source="DOID:8792", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154094 {source="MONDO:equivalentTo", source="DOID:8792"}
is_a: MONDO:0002466 ! eye carcinoma
is_a: MONDO:0004647 {source="DOID:8792", source="MONDO:Redundant", source="MONDOLEX:0004659", source="linkedlifedata"} ! in situ carcinoma
property_value: exactMatch DOID:8792
property_value: exactMatch http://identifiers.org/snomedct/92590009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154094

[Term]
id: MONDO:0004660
name: lung carcinoma in situ
def: "A carcinoma in situ involving a lung." [MONDO:patterns/carcinoma_in_situ]
synonym: "bronchial carcinoma in situ" EXACT [NCIT:C27467]
synonym: "carcinoma in situ of lung" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "lung in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 lung cancer" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v6" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v6 and v7" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v7" EXACT [NCIT:C27467]
synonym: "stage 0 lung carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8800 {source="MONDO:equivalentTo"}
xref: ICD10:D02.2 {source="DOID:8800"}
xref: ICD9:231.2 {source="DOID:8800"}
xref: NCIT:C27467 {source="MONDO:equivalentTo"}
xref: SCTID:92649001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C0685053 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27467"}
is_a: MONDO:0004647 {source="DOID:8800", source="MONDO:Redundant", source="MONDOLEX:0004660", source="NCIT:C27467", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0005138 {source="MONDO:Redundant", source="MONDOLEX:0004660", source="NCIT:C27467/inferred"} ! lung carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189262006
property_value: closeMatch http://identifiers.org/snomedct/189268005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154071
property_value: exactMatch DOID:8800
property_value: exactMatch http://identifiers.org/snomedct/92649001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685053
property_value: exactMatch NCIT:C27467

[Term]
id: MONDO:0004661
name: trachea carcinoma in situ
def: "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:P378]
synonym: "carcinoma in situ of the trachea" EXACT [NCIT:C3639]
synonym: "carcinoma in situ of trachea" EXACT [DOID:8802, MONDO:patterns/carcinoma_in_situ, NCIT:C3639]
synonym: "severe epithelial dysplasia of trachea" EXACT [NCIT:C3639]
synonym: "stage 0 trachea carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "trachea carcinoma in situ" EXACT [NCIT:C3639]
synonym: "trachea in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "tracheal carcinoma in situ" EXACT [DOID:8802, NCIT:C3639]
xref: COHD:439772 {source="MONDO:equivalentTo"}
xref: DOID:8802 {source="MONDO:equivalentTo"}
xref: ICD10:D02.1 {source="DOID:8802", source="MONDO:equivalentTo"}
xref: ICD9:231.1 {source="DOID:8802", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3639 {source="DOID:8802", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:92772005 {source="DOID:8802", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154070 {source="NCIT:C3639", source="DOID:8802", source="MONDO:equivalentTo"}
is_a: MONDO:0001419 {source="MONDO:Redundant", source="NCIT:C3639"} ! trachea squamous cell carcinoma
is_a: MONDO:0004693 {source="MONDO:Redundant", source="NCIT:C3639"} ! squamous carcinoma in situ
property_value: exactMatch DOID:8802
property_value: exactMatch http://identifiers.org/snomedct/92772005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154070
property_value: exactMatch NCIT:C3639

[Term]
id: MONDO:0004662
name: heterophyiasis
def: "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128389]
synonym: "Heterophyes infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Heterophyes infectious disease" EXACT [DOID:882]
synonym: "infections, Heterophyes" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:882 {source="MONDO:equivalentTo"}
xref: ICD10:B66.8 {source="DOID:882"}
xref: ICD9:121.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:882"}
xref: NCIT:C128389 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:22905009 {source="MONDO:equivalentTo", source="DOID:882", source="MONDO:kboom-pr-1.00/0.75/6.58"}
xref: UMLS:C0152071 {source="NCIT:C128389", source="MONDO:equivalentTo", source="DOID:882"}
is_a: MONDO:0004664 {source="DOID:882", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/187126008
property_value: exactMatch DOID:882
property_value: exactMatch http://identifiers.org/snomedct/22905009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152071
property_value: exactMatch NCIT:C128389

[Term]
id: MONDO:0004663
name: colon carcinoma in situ
def: "A in situ carcinoma that involves the colon." [MONDO:patterns/location]
synonym: "carcinoma in situ of colon" EXACT [DOID:8826, MONDO:patterns/carcinoma_in_situ, NCIT:C3638]
synonym: "carcinoma in situ of the colon" EXACT [NCIT:C3638]
synonym: "colon cancer stage 0" EXACT [NCIT:C3638]
synonym: "colon carcinoma in situ" EXACT [NCIT:C3638]
synonym: "colon in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "colonic carcinoma in situ" EXACT [NCIT:C3638]
synonym: "stage 0 carcinoma of colon" EXACT [NCIT:C3638]
synonym: "stage 0 carcinoma of the colon" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v6" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v6 and v7" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v7" EXACT [NCIT:C3638]
synonym: "stage 0 colon carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3638]
synonym: "stage 0 colonic carcinoma" EXACT [DOID:8826, NCIT:C3638]
xref: COHD:75512 {source="MONDO:equivalentTo"}
xref: DOID:8826 {source="MONDO:equivalentTo"}
xref: ICD10:D01.0 {source="DOID:8826", source="MONDO:equivalentTo"}
xref: ICD9:230.3 {source="DOID:8826", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3638 {source="DOID:8826", source="MONDO:equivalentTo"}
xref: SCTID:92568009 {source="DOID:8826", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154061 {source="NCIT:C3638", source="DOID:8826", source="MONDO:equivalentTo"}
is_a: MONDO:0002032 ! colon carcinoma
is_a: MONDO:0004698 {source="DOID:8826", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestine carcinoma in situ
property_value: closeMatch http://identifiers.org/snomedct/189230008
property_value: exactMatch DOID:8826
property_value: exactMatch http://identifiers.org/snomedct/92568009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154061
property_value: exactMatch NCIT:C3638

[Term]
id: MONDO:0004664
name: helminthiasis
def: "A parasitic infection characterized by the infestation with worms, mainly in the intestine." [NCIT:C84751]
comment: Editor note: this is a vague grouping and does not correspond to any one taxon
synonym: "helminth infection" EXACT [DOID:883]
synonym: "helminthiasis" EXACT [NCIT:C84751]
synonym: "helminthosis" EXACT [DOID:883]
synonym: "parasitic helminthiasis infectious disease" EXACT [DOID:883]
synonym: "worm infection" RELATED [DOID:883]
xref: COHD:441793 {source="MONDO:equivalentTo"}
xref: DOID:883 {source="MONDO:equivalentTo"}
xref: EFO:1001342 {source="MONDO:equivalentTo"}
xref: GARD:0006578 {source="MONDO:equivalentTo"}
xref: ICD10:B65-B83 {source="DOID:883"}
xref: ICD10:B65.B83 {source="MONDO:equivalentTo"}
xref: ICD10:B83.9 {source="DOID:883"}
xref: ICD9:120-129.99 {source="DOID:883"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:128.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:883"}
xref: MESH:D006373 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:883"}
xref: NCIT:C84751 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:883"}
xref: SCTID:27601005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99", source="DOID:883"}
xref: UMLS:C0018889 {source="MONDO:equivalentTo", source="NCIT:C84751", source="DOID:883"}
is_a: MONDO:0005135 {source="DOID:883", source="EFO:1001342", source="MESH:D006373", source="NCIT:C84751", source="linkedlifedata"} ! parasitic infection
property_value: closeMatch http://identifiers.org/snomedct/154410004
property_value: closeMatch http://identifiers.org/snomedct/187189004
property_value: closeMatch http://identifiers.org/snomedct/187518006
property_value: closeMatch http://identifiers.org/snomedct/187542005
property_value: closeMatch http://identifiers.org/snomedct/266219000
property_value: exactMatch DOID:883
property_value: exactMatch http://identifiers.org/mesh/D006373
property_value: exactMatch http://identifiers.org/snomedct/27601005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018889
property_value: exactMatch NCIT:C84751

[Term]
id: MONDO:0004665
name: nodular sclerosis classical Hodgkin lymphoma
def: "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" [NCIT:C3518]
synonym: "classical Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin's disease nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin's disease nodular sclerosis NOS" RELATED EXCLUDE [DOID:8838, MTHICD9_2006:201.5]
synonym: "Hodgkin's disease, nodular sclerosis" RELATED [DOID:8838]
synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [DOID:8838]
synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [DOID:8838]
synonym: "Hodgkin's lymphoma, nodular sclerosis" RELATED [DOID:8838]
synonym: "Hodgkin's nodular sclerosis" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Classic Hodgkin lymphoma" EXACT [NCIT:C3518]
synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Hodgkin lymphoma" EXACT [MONDO:0005422, NCIT:C3518]
synonym: "nodular sclerosis Hodgkin's disease" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Hodgkin's lymphoma" EXACT [NCIT:C3518]
synonym: "NSCHL" EXACT [NCIT:C3518]
synonym: "NSHD" EXACT [NCIT:C3518]
synonym: "NSHL" EXACT [DOID:8838, NCIT:C3518]
xref: COHD:4038842 {source="MONDO:equivalentTo"}
xref: DOID:8838 {source="MONDO:equivalentTo"}
xref: EFO:0004708 {source="MONDO:equivalentTo"}
xref: ICD10:C81.1 {source="DOID:8838"}
xref: ICD9:201.5 {source="DOID:8838"}
xref: ICDO:9663/3 {source="NCIT:C3518"}
xref: NCIT:C3518 {source="MONDO:equivalentTo", source="DOID:8838", source="EFO:0004708"}
xref: ONCOTREE:NSCHL {source="MONDO:equivalentTo"}
xref: SCTID:118608000 {source="MONDO:equivalentTo", source="DOID:8838", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0009348 {source="MONDOLEX:0004665", source="NCIT:C3518", source="ONCOTREE:NSCHL"} ! classic Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/134178004
property_value: closeMatch http://identifiers.org/snomedct/188564003
property_value: closeMatch http://identifiers.org/snomedct/188573006
property_value: closeMatch http://identifiers.org/snomedct/52248008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152268
property_value: exactMatch DOID:8838
property_value: exactMatch http://identifiers.org/snomedct/118608000
property_value: exactMatch NCIT:C3518

[Term]
id: MONDO:0004666
name: metagonimiasis
def: "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128390]
subset: gard_rare {source="GARD:0009745"}
synonym: "infection by Metagonimus yokogawai" EXACT [DOID:884, MTHICD9_2006:121.5]
synonym: "infections, Metagonimus yokogawai" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Metagonimus yokogawai infection" EXACT [GARD:0009745, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:884 {source="MONDO:equivalentTo"}
xref: GARD:0009745 {source="MONDO:equivalentTo"}
xref: ICD10:B66.8 {source="DOID:884"}
xref: ICD9:121.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:884"}
xref: NCIT:C128390 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:37832003 {source="MONDO:equivalentTo", source="DOID:884", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025530 {source="MONDO:equivalentTo", source="NCIT:C128390", source="DOID:884"}
is_a: MONDO:0004664 {source="DOID:884", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/mesh/D014201
property_value: exactMatch DOID:884
property_value: exactMatch http://identifiers.org/snomedct/37832003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025530
property_value: exactMatch NCIT:C128390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis xsd:anyURI {source="GARD:0009745"}

[Term]
id: MONDO:0004667
name: sublingual gland cancer
def: "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." [NCIT:C3527]
synonym: "cancer of sublingual gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sublingual gland" EXACT [MONDO:patterns/cancer, NCIT:C3527]
synonym: "malignant neoplasm of the sublingual gland" EXACT [NCIT:C3527]
synonym: "malignant sublingual gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3527]
synonym: "malignant sublingual gland tumor" EXACT [NCIT:C3527]
synonym: "malignant tumor of sublingual gland" EXACT [NCIT:C3527]
synonym: "malignant tumor of the sublingual gland" EXACT [DOID:8849, NCIT:C3527]
synonym: "sublingual gland cancer" EXACT [MONDO:patterns/location]
xref: DOID:8849 {source="MONDO:equivalentTo"}
xref: ICD10:C08.1 {source="DOID:8849"}
xref: ICD9:142.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:8849"}
xref: NCIT:C3527 {source="MONDO:equivalentTo", source="DOID:8849"}
xref: SCTID:363381003 {source="MONDO:equivalentTo", source="DOID:8849", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153361 {source="MONDO:equivalentTo", source="DOID:8849", source="NCIT:C3527"}
is_a: MONDO:0021242 {source="MONDO:Redundant", source="NCIT:C3527", source="linkedlifedata"} ! sublingual gland neoplasm
is_a: MONDO:0044743 ! major salivary gland cancer
property_value: closeMatch http://identifiers.org/snomedct/94076001
property_value: exactMatch DOID:8849
property_value: exactMatch http://identifiers.org/snomedct/363381003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153361
property_value: exactMatch NCIT:C3527

[Term]
id: MONDO:0004668
name: fascioliasis
def: "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." [NCIT:C128387]
subset: gard_rare {source="GARD:0006428"}
synonym: "fasciola hepatica infection" EXACT [DOID:885]
synonym: "Fasciolosis" EXACT [NCIT:C128387]
synonym: "infection by fasciola" EXACT [DOID:885]
synonym: "liver flukes" EXACT [DOID:885]
synonym: "liver flukes NOS" RELATED EXCLUDE [DOID:885, MTHICD9_2006:121.3]
synonym: "sheep liver fluke infection" EXACT [DOID:885]
xref: DOID:885 {source="MONDO:equivalentTo"}
xref: EFO:1001324 {source="MONDO:equivalentTo"}
xref: GARD:0006428 {source="MONDO:equivalentTo"}
xref: ICD10:B66.3 {source="DOID:885", source="MONDO:equivalentTo"}
xref: ICD9:121.3 {source="DOID:885"}
xref: MESH:D005211 {source="DOID:885", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128387 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:82308007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.76/2.25"}
xref: UMLS:C0015652 {source="DOID:885", source="NCIT:C128387", source="MONDO:equivalentTo"}
xref: UMLS:C1331532 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:885", source="ICD10:B66.3/inferred", source="MESH:D005211/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
relationship: disease_has_feature MONDO:0002280 {source="Wikidata"} ! anemia (disease)
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: closeMatch http://identifiers.org/snomedct/111922007
property_value: closeMatch http://identifiers.org/snomedct/187125007
property_value: exactMatch DOID:885
property_value: exactMatch http://identifiers.org/mesh/D005211
property_value: exactMatch http://identifiers.org/snomedct/82308007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1331532
property_value: exactMatch NCIT:C128387
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6428/fascioliasis xsd:anyURI {source="GARD:0006428"}

[Term]
id: MONDO:0004669
name: salivary gland cancer
def: "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C3811]
synonym: "cancer of saliva-secreting gland" EXACT [MONDO:patterns/cancer]
synonym: "cancer of salivary gland" EXACT [NCIT:C3811]
synonym: "cancer of the salivary gland" EXACT [NCIT:C3811]
synonym: "malignant neoplasm of major salivary gland" EXACT [DOID:8850]
synonym: "malignant neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of salivary gland" EXACT [NCIT:C3811]
synonym: "malignant neoplasm of salivary gland duct" EXACT [DOID:8850]
synonym: "malignant neoplasm of the salivary gland" EXACT [NCIT:C3811]
synonym: "malignant saliva-secreting gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant salivary gland neoplasm" EXACT [NCIT:C3811]
synonym: "malignant salivary gland tumor" EXACT [NCIT:C3811]
synonym: "malignant tumor of salivary gland" EXACT [NCIT:C3811]
synonym: "malignant tumor of the Major salivary gland" EXACT EXCLUDE [DOID:8850]
synonym: "malignant tumor of the salivary gland" EXACT [NCIT:C3811]
synonym: "saliva-secreting gland cancer" EXACT []
synonym: "salivary gland cancer" EXACT [NCIT:C3811]
xref: COHD:4181333 {source="MONDO:equivalentTo"}
xref: DOID:8850 {source="MONDO:equivalentTo"}
xref: ICD10:C08 {source="MONDO:equivalentTo", source="DOID:8850"}
xref: ICD9:142.8 {source="DOID:8850"}
xref: MESH:D012468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3811 {source="MONDO:equivalentTo"}
xref: SCTID:255072001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005515 {source="DOID:8850"} ! oral cavity cancer
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C3811", source="linkedlifedata"} ! tumor of salivary gland
property_value: closeMatch http://identifiers.org/snomedct/187648003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153362
property_value: exactMatch DOID:8850
property_value: exactMatch http://identifiers.org/mesh/D012468
property_value: exactMatch http://identifiers.org/snomedct/255072001
property_value: exactMatch NCIT:C3811

[Term]
id: MONDO:0004670
name: lupus erythematosus
def: "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." [NCIT:C27153]
synonym: "lupus" EXACT [DOID:8857, NCIT:C27153]
synonym: "lupus erythematosus" EXACT [NCIT:C27153]
xref: COHD:255891 {source="MONDO:equivalentTo"}
xref: DOID:8857 {source="MONDO:equivalentTo"}
xref: ICD10:L93 {source="DOID:8857", source="MONDO:equivalentTo"}
xref: ICD10:L93.0 {source="DOID:8857", source="MONDO:superClassOf"}
xref: ICD9:695.4 {source="DOID:8857", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27153 {source="DOID:8857", source="MONDO:equivalentTo"}
xref: SCTID:200936003 {source="DOID:8857", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0409974 {source="NCIT:C27153", source="DOID:8857", source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="NCIT:C27153"} ! rheumatologic disorder
is_a: MONDO:0007179 {source="DOID:8857", source="MONDO:Redundant", source="NCIT:C27153", source="linkedlifedata"} ! autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/200944003
property_value: exactMatch DOID:8857
property_value: exactMatch http://identifiers.org/snomedct/200936003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409974
property_value: exactMatch NCIT:C27153

[Term]
id: MONDO:0004671
name: penis carcinoma in situ
def: "A in situ carcinoma that involves the penis." [MONDO:patterns/location]
synonym: "Bowen disease of the penis" EXACT [NCIT:C27790]
synonym: "Bowen's disease of penis" EXACT [DOID:8872, NCIT:C27790]
synonym: "Bowen's disease of the penis" EXACT [NCIT:C27790]
synonym: "carcinoma in situ of penis" EXACT [DOID:8872, MONDO:patterns/carcinoma_in_situ, NCIT:C27790]
synonym: "carcinoma in situ of the penis" EXACT [NCIT:C27790]
synonym: "erythroplasia of Queyrat" EXACT [NCIT:C27790]
synonym: "grade III penile intraepithelial neoplasia" EXACT [NCIT:C27790]
synonym: "grade III squamous intraepithelial lesion of penis" EXACT [DOID:8872, NCIT:C27790]
synonym: "grade III squamous intraepithelial lesion of the penis" EXACT [NCIT:C27790]
synonym: "penile carcinoma in situ" EXACT [NCIT:C27790]
synonym: "penile carcinoma in situ aJCC v7" EXACT [NCIT:C27790]
synonym: "penile intraepithelial neoplasia grade III" EXACT [DOID:8872]
synonym: "penis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "Queyrat erythroplasia" EXACT [NCIT:C27790]
synonym: "Queyrat's erythroplasia" EXACT [DOID:8872, NCIT:C27790]
synonym: "stage 0 penile carcinoma in situ" EXACT [NCIT:C27790]
synonym: "stage 0 penis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: COHD:193162 {source="MONDO:equivalentTo"}
xref: DOID:8872 {source="MONDO:equivalentTo"}
xref: ICD10:D00-D09 {source="DOID:8872"}
xref: ICD10:D07.4 {source="DOID:8872"}
xref: ICD9:233.5 {source="DOID:8872"}
xref: ICDO:8080/2 {source="NCIT:C27790"}
xref: NCIT:C27790 {source="MONDO:equivalentTo", source="DOID:8872"}
xref: SCTID:398831006 {source="MONDO:kboom-pr-0.89/0.75/0.23", source="MONDO:equivalentTo", source="DOID:8872"}
xref: UMLS:C0154089 {source="MONDO:equivalentTo", source="NCIT:C27790", source="DOID:8872"}
is_a: MONDO:0004693 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous carcinoma in situ
is_a: MONDO:0018352 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous cell carcinoma of penis
property_value: closeMatch http://identifiers.org/snomedct/18348002
property_value: closeMatch http://identifiers.org/snomedct/189208007
property_value: closeMatch http://identifiers.org/snomedct/255104003
property_value: closeMatch http://identifiers.org/snomedct/255105002
property_value: closeMatch http://identifiers.org/snomedct/255147003
property_value: closeMatch http://identifiers.org/snomedct/400092004
property_value: closeMatch http://identifiers.org/snomedct/92679008
property_value: exactMatch DOID:8872
property_value: exactMatch http://identifiers.org/snomedct/398831006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154089
property_value: exactMatch NCIT:C27790

[Term]
id: MONDO:0004672
name: fasciolopsiasis
def: "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." [NCIT:C128388]
synonym: "infection by Fasciolopsis buski" EXACT [DOID:888]
synonym: "infectious disease by Fasciolopsis" EXACT [DOID:888, MTHICD9_2006:121.4]
xref: DOID:888 {source="MONDO:equivalentTo"}
xref: ICD10:B66.5 {source="DOID:888", source="MONDO:equivalentTo"}
xref: ICD9:121.4 {source="DOID:888", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C128388 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:54266002 {source="DOID:888", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
xref: UMLS:C0015656 {source="DOID:888", source="NCIT:C128388", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:888", source="ICD10:B66.5/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/mesh/D014201
property_value: exactMatch DOID:888
property_value: exactMatch http://identifiers.org/snomedct/54266002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015656
property_value: exactMatch NCIT:C128388

[Term]
id: MONDO:0004673
name: lower lip cancer
def: "A malignant neoplasm involving the lower lip." [MONDO:DesignPattern]
synonym: "cancer of lower lip" EXACT [MONDO:patterns/cancer]
synonym: "lower lip cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lower lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lower lip" EXACT [MONDO:patterns/cancer]
xref: DOID:8883 {source="MONDO:equivalentTo"}
xref: ICD10:C00.1 {source="DOID:8883"}
xref: ICD9:140.1 {source="DOID:8883"}
xref: SCTID:363373004 {source="MONDO:equivalentTo", source="DOID:8883"}
xref: UMLS:C0432520 {source="MONDO:equivalentTo", source="DOID:8883"}
is_a: MONDO:0006834 {source="DOID:8883", source="MONDO:Redundant", source="MONDOLEX:0004673"} ! lip cancer
property_value: closeMatch http://identifiers.org/snomedct/187603002
property_value: closeMatch http://identifiers.org/snomedct/187605009
property_value: closeMatch http://identifiers.org/snomedct/94136008
property_value: exactMatch DOID:8883
property_value: exactMatch http://identifiers.org/snomedct/363373004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432520

[Term]
id: MONDO:0004674
name: chorioretinitis (disease)
def: "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." [NCIT:P378]
synonym: "chorioretinitis" EXACT [MONDO:ambiguous]
synonym: "retinochoroiditis" EXACT [CSP2005:1114-9328, DOID:8886]
xref: COHD:434033 {source="MONDO:equivalentTo"}
xref: DOID:8886 {source="MONDO:equivalentTo"}
xref: GARD:0006060 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0012424 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H30 {source="DOID:8886"}
xref: ICD10:H30.9 {source="DOID:8886"}
xref: ICD9:363.20 {source="DOID:8886", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002825 {source="DOID:8886", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C110923 {source="DOID:8886", source="MONDO:kboom-pr-1.00/0.85/15.41", source="MONDO:equivalentTo"}
xref: SCTID:46627006 {source="DOID:8886", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0008513 {source="DOID:8886", source="MEDGEN:kboom-pr98-c99", source="NCIT:C110923", source="MONDO:equivalentTo"}
is_a: MONDO:0020283 {source="MESH:D002825/inferred", source="NCIT:C110923", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/193432007
property_value: closeMatch http://identifiers.org/snomedct/270531006
property_value: exactMatch DOID:8886
property_value: exactMatch http://identifiers.org/mesh/D002825
property_value: exactMatch http://identifiers.org/snomedct/46627006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008513
property_value: exactMatch NCIT:C110923

[Term]
id: MONDO:0004675
name: mitochondrial encephalomyopathy
def: "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" [MESH:D017237]
xref: DOID:890 {source="MONDO:equivalentTo"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017237 {source="MONDO:equivalentTo", source="DOID:890", source="MONDO:ontobio"}
xref: SCTID:447292006 {source="MONDO:equivalentTo", source="DOID:890", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162666 {source="MONDO:equivalentTo", source="DOID:890"}
is_a: MONDO:0009637 {source="DOID:890", source="MESH:D017237"} ! inborn mitochondrial myopathy
property_value: exactMatch DOID:890
property_value: exactMatch http://identifiers.org/mesh/D017237
property_value: exactMatch http://identifiers.org/snomedct/447292006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162666

[Term]
id: MONDO:0004676
name: obsolete progressive myoclonus epilepsy
is_obsolete: true
replaced_by: MONDO:0020074

[Term]
id: MONDO:0004677
name: tinea nigra
def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." [DOID:8912, http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html]
synonym: "infection by Cladosporium werneckii" EXACT [DOID:8912]
synonym: "keratomycosis nigricans" EXACT [DOID:8912]
synonym: "microsporosis nigra" RELATED [DOID:8912]
synonym: "Tinea palmaris nigra" EXACT [DOID:8912]
xref: COHD:134865 {source="MONDO:equivalentTo"}
xref: DOID:8912 {source="MONDO:equivalentTo"}
xref: ICD10:B36.1 {source="DOID:8912", source="MONDO:equivalentTo"}
xref: ICD9:111.1 {source="DOID:8912"}
xref: SCTID:183342005 {source="MONDO:kboom-pr-0.95/0.83/1.36", source="DOID:8912", source="MONDO:equivalentTo"}
xref: UMLS:C0152067 {source="DOID:8912", source="MONDO:equivalentTo"}
is_a: MONDO:0024268 {source="DOID:8912", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis
property_value: closeMatch http://identifiers.org/snomedct/1022006
property_value: closeMatch http://identifiers.org/snomedct/184346000
property_value: closeMatch http://identifiers.org/snomedct/185367005
property_value: closeMatch http://identifiers.org/snomedct/186289000
property_value: closeMatch http://identifiers.org/snomedct/187000000
property_value: closeMatch http://identifiers.org/snomedct/266153005
property_value: exactMatch DOID:8912
property_value: exactMatch http://identifiers.org/snomedct/183342005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152067

[Term]
id: MONDO:0004678
name: dermatophytosis
def: "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." [NCIT:P378]
comment: Editor note: check cutaneous vs superficial
synonym: "dermatomycosis" EXACT [MESH:D003881]
synonym: "fungal skin disease" EXACT [MESH:D003881]
synonym: "fungal skin diseases" EXACT [MESH:D003881]
synonym: "ringworm" RELATED [https://en.wikipedia.org/wiki/Dermatophytosis]
synonym: "skin disease, fungal" EXACT [MESH:D003881]
synonym: "skin diseases, fungal" EXACT [MESH:D003881]
xref: COHD:135473 {source="MONDO:equivalentTo"}
xref: DOID:8913 {source="MONDO:equivalentTo"}
xref: ICD10:B35 {source="MONDO:equivalentTo", source="DOID:8913"}
xref: ICD10:B35.9 {source="DOID:8913"}
xref: ICD9:110 {source="DOID:8913"}
xref: ICD9:110.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:110.9 {source="MONDO:equivalentTo", source="DOID:8913", source="i2s"}
xref: NCIT:C26745 {source="MONDO:equivalentTo", source="DOID:8913", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:47382004 {source="MONDO:equivalentTo", source="DOID:8913"}
xref: UMLS:C0011636 {source="MONDO:equivalentTo", source="DOID:8913", source="NCIT:C26745"}
is_a: MONDO:0021201 ! skin infection
is_a: MONDO:0024268 {source="MONDO:Redundant", source="linkedlifedata"} ! superficial mycosis
property_value: closeMatch http://identifiers.org/snomedct/154394006
property_value: closeMatch http://identifiers.org/snomedct/186984003
property_value: closeMatch http://identifiers.org/snomedct/186998006
property_value: closeMatch http://identifiers.org/snomedct/187474000
property_value: closeMatch http://identifiers.org/snomedct/266214005
property_value: exactMatch DOID:8913
property_value: exactMatch http://identifiers.org/snomedct/47382004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011636
property_value: exactMatch NCIT:C26745

[Term]
id: MONDO:0004679
name: leukoplakia of vagina
def: "Leukoplakia of the vagina." [NCIT:P378]
synonym: "leukoplakia of the vagina" EXACT [NCIT:C3663]
synonym: "vaginal leukoplakia" EXACT [DOID:8920, NCIT:C3663]
xref: COHD:194703 {source="MONDO:equivalentTo"}
xref: DOID:8920 {source="MONDO:equivalentTo"}
xref: ICD10:N89.4 {source="DOID:8920", source="MONDO:equivalentTo"}
xref: ICD9:623.1 {source="DOID:8920", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3663 {source="DOID:8920", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:111420009 {source="DOID:8920", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156385 {source="DOID:8920", source="MONDO:equivalentTo", source="NCIT:C3663"}
is_a: MONDO:0001433 {source="DOID:8920", source="MONDO:Redundant", source="linkedlifedata"} ! vaginal disease
is_a: MONDO:0043243 ! leukoplakia
property_value: exactMatch DOID:8920
property_value: exactMatch http://identifiers.org/snomedct/111420009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156385
property_value: exactMatch NCIT:C3663

[Term]
id: MONDO:0004680
name: primary thrombocytopenia
xref: COHD:441264 {source="MONDO:equivalentTo"}
xref: DOID:8925 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="DOID:8925"}
xref: ICD10:D69.49 {source="DOID:8925"}
xref: ICD9:287.3 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:287.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:287.39 {source="DOID:8925"}
xref: SCTID:267534000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.98"}
xref: UMLS:C0701157 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000602 {source="DOID:8925"} ! autoimmune disease of blood
property_value: closeMatch http://identifiers.org/snomedct/191435001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0477317
property_value: exactMatch DOID:8925
property_value: exactMatch http://identifiers.org/snomedct/267534000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701157

[Term]
id: MONDO:0004681
name: learning disability
def: "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." [NCIT:P378]
synonym: "Academic skill disorder" EXACT [DOID:8927]
synonym: "learning disorder" EXACT [CSP2005:2483-6402, DOID:8927]
xref: DOID:8927 {source="MONDO:equivalentTo"}
xref: ICD10:F81.9 {source="DOID:8927"}
xref: ICD9:315.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007859 {source="MONDO:equivalentTo", source="DOID:8927", source="MONDO:ontobio"}
xref: NCIT:C89334 {source="MONDO:equivalentTo", source="DOID:8927", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:1855002 {source="MONDO:kboom-pr-1.00/0.79/8.11", source="MONDO:equivalentTo", source="DOID:8927"}
xref: UMLS:CN229495 {source="MONDO:equivalentTo"}
is_a: MONDO:0000592 {source="DOID:8927"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/154973004
property_value: closeMatch http://identifiers.org/snomedct/154974005
property_value: closeMatch http://identifiers.org/snomedct/192531005
property_value: closeMatch http://identifiers.org/snomedct/247576004
property_value: closeMatch http://identifiers.org/snomedct/367332004
property_value: closeMatch http://identifiers.org/snomedct/389991004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023186
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751265
property_value: exactMatch DOID:8927
property_value: exactMatch http://identifiers.org/mesh/D007859
property_value: exactMatch http://identifiers.org/snomedct/1855002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229495
property_value: exactMatch NCIT:C89334

[Term]
id: MONDO:0004682
name: retromolar area cancer
def: "A malignant form of neoplasm of retromolar area." [MONDO:patterns/malignant]
synonym: "malignant neoplasm of retromolar area" EXACT []
synonym: "malignant tumor of retromolar area" EXACT [DOID:8930]
synonym: "neoplasm of retromolar area, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:8930 {source="MONDO:equivalentTo"}
xref: ICD10:C06.2 {source="DOID:8930", source="MONDO:equivalentTo"}
xref: ICD9:145.6 {source="DOID:8930", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363391009 {source="DOID:8930", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002131 ! jaw cancer
is_a: MONDO:0005515 {source="DOID:8930", source="linkedlifedata"} ! oral cavity cancer
is_a: MONDO:0037744 ! neoplasm of retromolar area
property_value: closeMatch http://identifiers.org/snomedct/93989001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153379
property_value: exactMatch DOID:8930
property_value: exactMatch http://identifiers.org/snomedct/363391009

[Term]
id: MONDO:0004683
name: obsolete Evans' syndrome
is_obsolete: true
replaced_by: MONDO:0016030

[Term]
id: MONDO:0004684
name: plantar fibromatosis
def: "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680]
synonym: "Dupuytren's contracture of foot" EXACT [DOID:8936]
synonym: "Ledderhose's disease" EXACT [DOID:8936, NCIT:C4680]
synonym: "plantar fascial fibromatosis" RELATED [DOID:8936]
synonym: "plantar fibromatosis" EXACT [MONDO:0006376, NCIT:C4680]
synonym: "plantar part of pes superficial Fibromatosis" EXACT [MONDO:patterns/location]
synonym: "plantar part of pes superficial fibromatosis" EXACT [MONDO:patterns/location]
synonym: "superficial Fibromatosis of plantar part of pes" EXACT []
synonym: "superficial fibromatosis of plantar part of pes" EXACT [MONDO:design_pattern]
xref: DOID:8936 {source="MONDO:equivalentTo"}
xref: EFO:1000481 {source="MONDO:equivalentTo"}
xref: ICD10:M72.2 {source="DOID:8936"}
xref: ICD9:728.71 {source="DOID:8936", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4680 {source="EFO:1000481", source="DOID:8936", source="MONDO:equivalentTo"}
xref: SCTID:13370002 {source="DOID:8936", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.82/0.11"}
is_a: MONDO:0016037 {source="MONDO:Redundant", source="MONDOLEX:0004684", source="NCIT:C4680"} ! superficial Fibromatosis
is_a: MONDO:0044989 ! foot disease
property_value: closeMatch http://identifiers.org/snomedct/240032001
property_value: exactMatch DOID:8936
property_value: exactMatch http://identifiers.org/snomedct/13370002
property_value: exactMatch NCIT:C4680

[Term]
id: MONDO:0004685
name: Waldeyer's ring cancer
def: "A malignant neoplasm involving the tonsillar ring." [MONDO:DesignPattern]
synonym: "cancer of tonsillar ring" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of tonsillar ring" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937]
synonym: "malignant tonsillar ring neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of Waldeyer's ring" EXACT [DOID:8937]
synonym: "tonsillar ring cancer" EXACT [MONDO:patterns/location]
synonym: "Waldeyer ring cancer" EXACT [DOID:8937]
xref: DOID:8937 {source="MONDO:equivalentTo"}
xref: ICD10:C14.2 {source="MONDO:equivalentTo", source="DOID:8937"}
xref: ICD9:149.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8937"}
xref: SCTID:187716008 {source="MONDO:equivalentTo", source="DOID:8937", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153406 {source="MONDO:equivalentTo", source="DOID:8937"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0004608 {source="DOID:8937"} ! oropharynx cancer
is_a: MONDO:0044986 ! lymphoid system disease
property_value: closeMatch http://identifiers.org/snomedct/94144008
property_value: exactMatch DOID:8937
property_value: exactMatch http://identifiers.org/snomedct/187716008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153406

[Term]
id: MONDO:0004686
name: lattice corneal dystrophy (disease)
comment: Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II
synonym: "familial amyloid neuropathy, Finnish type" EXACT [DOID:8943]
synonym: "lattice corneal dystrophy" EXACT [MONDO:ambiguous]
xref: DOID:8943 {source="MONDO:equivalentTo"}
xref: HP:0001149 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:1192004 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0155127 {source="MONDO:equivalentTo"}
is_a: MONDO:0020213 {source="linkedlife"} ! stromal corneal dystrophy
relationship: excluded_subClassOf MONDO:0000764 {source="DOID:8943"} ! epithelial-stromal TGFBI dystrophy
property_value: closeMatch http://identifiers.org/mesh/C537935
property_value: exactMatch DOID:8943
property_value: exactMatch http://identifiers.org/snomedct/1192004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155127

[Term]
id: MONDO:0004687
name: severe nonproliferative diabetic retinopathy
synonym: "high risk non proliferative diabetic retinopathy" EXACT [DOID:8946]
synonym: "severe nonproliferative diabetic retinopathy" EXACT []
synonym: "severe nonproliferative retinopathy" RELATED []
synonym: "severe NPDR" EXACT [DOID:8946]
synonym: "severe npdr" RELATED []
xref: DOID:8946 {source="MONDO:equivalentTo"}
xref: ICD9:362.06 {source="MONDO:equivalentTo", source="DOID:8946", source="i2s"}
xref: SCTID:312905005 {source="MONDO:equivalentTo", source="DOID:8946"}
xref: UMLS:C0730278 {source="MONDO:equivalentTo", source="DOID:8946"}
is_a: MONDO:0001661 {source="MONDOLEX:0004687", source="linkedlifedata"} ! background diabetic retinopathy
property_value: closeMatch http://identifiers.org/snomedct/390720006
property_value: closeMatch http://identifiers.org/snomedct/391178000
property_value: exactMatch DOID:8946
property_value: exactMatch http://identifiers.org/snomedct/312905005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730278

[Term]
id: MONDO:0004688
name: obsolete sideroblastic anemia
is_obsolete: true
replaced_by: MONDO:0015194

[Term]
id: MONDO:0004689
name: inborn metal metabolism disorder
def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [DOID:896, http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism]
synonym: "metal metabolism disorder" BROAD [CSP2005:4000-0215, DOID:896]
synonym: "metal metabolism, inborn error" RELATED [MESH:D008664]
xref: DOID:896 {source="MONDO:equivalentTo"}
xref: MESH:D008664 {source="DOID:896", source="MONDO:equivalentTo"}
xref: UMLS:C0025534 {source="DOID:896", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="DOID:896", source="MESH:D008664"} ! inborn errors of metabolism
property_value: exactMatch DOID:896
property_value: exactMatch http://identifiers.org/mesh/D008664
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025534

[Term]
id: MONDO:0004690
name: tonsillar fossa cancer
def: "A cancer involving a tonsillar fossa." [MONDO:patterns/cancer]
synonym: "cancer of tonsillar fossa" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of tonsillar fossa" EXACT [MONDO:patterns/cancer]
synonym: "malignant tonsillar fossa neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of tonsillar fossa" EXACT [DOID:8969, MTH:U001012]
synonym: "tonsillar fossa cancer" EXACT [MONDO:patterns/location]
xref: DOID:8969 {source="MONDO:equivalentTo"}
xref: ICD10:C09.0 {source="DOID:8969", source="MONDO:equivalentTo"}
xref: ICD9:146.1 {source="DOID:8969", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:363394001 {source="DOID:8969", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153384 {source="DOID:8969", source="MONDO:equivalentTo"}
is_a: MONDO:0006998 {source="ICD10:C09.0", source="MONDO:Redundant", source="MONDOLEX:0004690", source="linkedlifedata"} ! tonsil cancer
property_value: closeMatch http://identifiers.org/snomedct/187680001
property_value: closeMatch http://identifiers.org/snomedct/94102002
property_value: exactMatch DOID:8969
property_value: exactMatch http://identifiers.org/snomedct/363394001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153384

[Term]
id: MONDO:0004691
name: autosomal dominant polycystic kidney disease
def: "Autosomal dominant form of polycystic kidney disease." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/autosomal_dominant]
synonym: "ADPKD" EXACT [Orphanet:730]
synonym: "congenital biliary ectasias" RELATED [DOID:898]
synonym: "polycystic kidney and hepatic disease 1" RELATED EXCLUDE [DOID:898]
synonym: "polycystic kidney disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:898 {source="MONDO:equivalentTo"}
xref: EFO:1001496 {source="MONDO:equivalentTo"}
xref: GARD:0010413 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.3 {source="DOID:898"}
xref: ICD9:753.12 {source="DOID:898"}
xref: ICD9:753.13 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C84578 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:730 {source="DOID:898", source="MONDO:equivalentTo"}
xref: SCTID:765330003 {source="MONDO:equivalentTo"}
xref: UMLS:CN119611 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:898", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0018396 {source="Orphanet:730"} ! rare male fertility disorder with obstructive azoospermia
is_a: MONDO:0018409 {source="Orphanet:730"} ! rare genetic disorder with obstructive azoospermia
is_a: MONDO:0019741 {source="EFO:1001496", source="MONDO:Redundant", source="Orphanet:730"} ! familial cystic renal disease
is_a: MONDO:0020642 {source="NCIT:C84578"} ! polycystic kidney disease
property_value: closeMatch http://identifiers.org/mesh/D007690
property_value: closeMatch http://identifiers.org/snomedct/156973002
property_value: closeMatch http://identifiers.org/snomedct/204954005
property_value: closeMatch http://identifiers.org/snomedct/204955006
property_value: closeMatch http://identifiers.org/snomedct/204956007
property_value: closeMatch http://identifiers.org/snomedct/268233005
property_value: closeMatch http://identifiers.org/snomedct/268332003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022680
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085413
property_value: exactMatch DOID:898
property_value: exactMatch http://identifiers.org/snomedct/765330003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119611
property_value: exactMatch NCIT:C84578
property_value: exactMatch Orphanet:730

[Term]
id: MONDO:0004692
name: obsolete choledochal cyst
is_obsolete: true
replaced_by: MONDO:0018805

[Term]
id: MONDO:0004693
name: squamous carcinoma in situ
def: "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." [NCIT:C27093]
synonym: "carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "carcinoma in situ of uterine cervix" EXACT [DOID:8991, MONDO:patterns/carcinoma_in_situ, MTH:NOCODE]
synonym: "carcinoma, squamous cell, in situ, malignant" EXACT [NCIT:C27093]
synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [DOID:8991]
synonym: "cervix Ca in situ" EXACT [DOID:8991]
synonym: "CIN III" EXACT [DOID:8991]
synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991]
synonym: "epidermoid carcinoma in situ" EXACT [NCIT:C27093]
synonym: "epidermoid cell carcinoma in situ" EXACT [NCIT:C27093]
synonym: "grade 3 SIN" EXACT [NCIT:C27093]
synonym: "grade 3 squamous intraepithelial neoplasia" EXACT [NCIT:C27093]
synonym: "grade III SIN" EXACT [NCIT:C27093]
synonym: "grade III squamous intraepithelial neoplasia" EXACT [NCIT:C27093]
synonym: "intraepithelial squamous cell carcinoma" EXACT [NCIT:C27093]
synonym: "severe dysplasia of cervix" EXACT [DOID:8991, MTHICD9_2006:233.1]
synonym: "severe dysplasia of the cervix uteri" EXACT [DOID:8991, NCIT:C4000]
synonym: "squamous carcinoma in situ" EXACT [NCIT:C27093]
synonym: "squamous cell carcinoma in situ" EXACT [NCIT:C27093]
synonym: "squamous cell carcinoma in-situ" EXACT [NCIT:C27093]
synonym: "squamous intraepithelial neoplasia, grade III" EXACT [DOID:8991]
synonym: "stage 0 squamous cell carcinoma" EXACT [NCIT:C27093]
synonym: "stage 0 uterine cervix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "uterine cervix in situ carcinoma" EXACT [MONDO:patterns/location]
xref: ICDO:8070/2 {source="NCIT:C27093"}
xref: ICDO:8077/2 {source="NCIT:C27093"}
xref: NCIT:C27093 {source="MONDO:equivalentTo"}
xref: UMLS:C0334245 {source="MONDO:equivalentTo", source="NCIT:C27093"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="MONDOLEX:0004693", source="NCIT:C27093", source="linkedlifedata"} ! in situ carcinoma
is_a: MONDO:0005096 {source="MONDO:Redundant", source="MONDOLEX:0004693", source="NCIT:C27093"} ! squamous cell carcinoma
intersection_of: MONDO:0004647 {source="NCIT:C27093"} ! in situ carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C27093"} ! squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334245
property_value: exactMatch NCIT:C27093

[Term]
id: MONDO:0004694
name: hepatopulmonary syndrome
def: "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease . Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis ) include small red spots on the skin ( spider angiomas ) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." [https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome]
subset: gard_rare {source="GARD:0013384"}
xref: COHD:4159144 {source="MONDO:equivalentTo"}
xref: DOID:900 {source="MONDO:equivalentTo"}
xref: EFO:1001346 {source="MONDO:equivalentTo"}
xref: GARD:0013384 {source="MONDO:equivalentTo"}
xref: ICD10:K76.81 {source="DOID:900", source="MONDO:equivalentTo"}
xref: ICD9:417.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:573.5 {source="DOID:900"}
xref: MESH:D020065 {source="DOID:900", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:371067004 {source="DOID:900", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0600452 {source="DOID:900", source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="DOID:900", source="MESH:D020065", source="linkedlifedata"} ! liver disease
property_value: exactMatch DOID:900
property_value: exactMatch http://identifiers.org/mesh/D020065
property_value: exactMatch http://identifiers.org/snomedct/371067004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600452
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome xsd:anyURI {source="GARD:0013384"}

[Term]
id: MONDO:0004695
name: liver lymphoma
def: "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." [NCIT:C4949]
synonym: "hepatic lymphoma" EXACT [NCIT:C4949]
synonym: "liver lymphoma" EXACT [MONDO:patterns/location, NCIT:C4949]
synonym: "lymphoma of liver" EXACT [DOID:901, NCIT:C4949]
synonym: "lymphoma of the liver" EXACT [NCIT:C4949]
synonym: "primary hepatic lymphoma" EXACT [NCIT:C4949]
synonym: "primary liver lymphoma" EXACT [NCIT:C4949]
xref: DOID:901 {source="MONDO:equivalentTo"}
xref: NCIT:C4949 {source="DOID:901", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1112746 {source="NCIT:C4949", source="DOID:901", source="MONDO:equivalentTo"}
is_a: MONDO:0002691 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! liver cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4949"} ! gastrointestinal lymphoma
property_value: exactMatch DOID:901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112746
property_value: exactMatch NCIT:C4949

[Term]
id: MONDO:0004696
name: larynx carcinoma in situ
def: "A in situ carcinoma that involves the larynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of larynx" EXACT [DOID:9011, MONDO:patterns/carcinoma_in_situ, NCIT:C9100]
synonym: "carcinoma in situ of the larynx" EXACT [NCIT:C9100]
synonym: "laryngeal cancer stage 0" EXACT [NCIT:C9100]
synonym: "laryngeal carcinoma in situ" EXACT [NCIT:C9100]
synonym: "laryngeal carcinoma stage 0" EXACT [NCIT:C9100]
synonym: "larynx carcinoma in situ" EXACT [NCIT:C9100]
synonym: "larynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of larynx" EXACT [NCIT:C9100]
synonym: "stage 0 carcinoma of the larynx" EXACT [DOID:9011, NCIT:C9100]
synonym: "stage 0 laryngeal cancer" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v6" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v6, v7, and V8" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v7" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v8" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal carcinoma" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal carcinoma in situ" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal throat cancer" EXACT [NCIT:C9100]
synonym: "stage 0 larynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9100]
xref: COHD:24897 {source="MONDO:equivalentTo"}
xref: DOID:9011 {source="MONDO:equivalentTo"}
xref: ICD10:D02.0 {source="MONDO:equivalentTo", source="DOID:9011"}
xref: ICD9:231.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9011"}
xref: NCIT:C9100 {source="MONDO:equivalentTo", source="DOID:9011"}
xref: SCTID:92634009 {source="MONDO:equivalentTo", source="DOID:9011", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154069 {source="NCIT:C9100", source="MONDO:equivalentTo", source="DOID:9011"}
is_a: MONDO:0002358 ! laryngeal carcinoma
is_a: MONDO:0004647 {source="DOID:9011", source="MONDO:Redundant", source="MONDOLEX:0004696", source="NCIT:C9100", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189261004
property_value: exactMatch DOID:9011
property_value: exactMatch http://identifiers.org/snomedct/92634009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154069
property_value: exactMatch NCIT:C9100

[Term]
id: MONDO:0004697
name: esophageal leukoplakia (disease)
def: "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." [NCIT:P378]
synonym: "esophageal epidermoid metaplasia" EXACT [NCIT:C3953]
synonym: "esophageal leukoplakia" EXACT [MONDO:ambiguous]
synonym: "esophagus leukoplakia" EXACT [NCIT:C3953]
synonym: "leukoplakia of esophagus" EXACT [DOID:9021]
synonym: "leukoplakia of the esophagus" EXACT [NCIT:C3953]
xref: DOID:9021 {source="MONDO:equivalentTo"}
xref: HP:0012859 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:530.83 {source="MONDO:equivalentTo", source="DOID:9021", source="i2s"}
xref: NCIT:C3953 {source="MONDO:equivalentTo", source="DOID:9021", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:89057003 {source="MONDO:equivalentTo", source="DOID:9021", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267095 {source="MONDO:equivalentTo", source="DOID:9021", source="NCIT:C3953"}
is_a: MONDO:0003749 {source="DOID:9021", source="MONDO:Redundant", source="linkedlifedata"} ! esophageal disease
is_a: MONDO:0043243 {source="MONDO:Redundant", source="NCIT:C3953", source="linkedlifedata"} ! leukoplakia
property_value: exactMatch DOID:9021
property_value: exactMatch http://identifiers.org/snomedct/89057003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267095
property_value: exactMatch NCIT:C3953

[Term]
id: MONDO:0004698
name: intestine carcinoma in situ
def: "A carcinoma in situ involving a intestine." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of intestine" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "intestine in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 intestine carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9024 {source="MONDO:equivalentTo"}
xref: ICD10:D01.4 {source="DOID:9024"}
xref: ICD9:230.7 {source="MONDO:relatedTo", source="i2s", source="DOID:9024"}
xref: SCTID:92617001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.38/0.58"}
xref: UMLS:C0685941 {source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="DOID:9024", source="MONDO:Redundant", source="MONDOLEX:0004698", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0005814 ! intestinal cancer
is_a: MONDO:0006181 ! digestive system carcinoma
property_value: closeMatch http://identifiers.org/snomedct/190172008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154065
property_value: exactMatch DOID:9024
property_value: exactMatch http://identifiers.org/snomedct/92617001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685941

[Term]
id: MONDO:0004699
name: gastrointestinal lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site." [NCIT:P378]
synonym: "digestive system lymphoma" EXACT [MONDO:patterns/location, NCIT:C38162]
synonym: "gastrointestinal lymphoma" EXACT [NCIT:C38162]
synonym: "lymphoma of digestive system" EXACT [MONDO:design_pattern]
synonym: "primary digestive system lymphoma" EXACT [NCIT:C38162]
synonym: "primary gastrointestinal lymphoma" EXACT [NCIT:C38162]
xref: DOID:903 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C38162 {source="DesignPattern", source="DOID:903", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:449072004 {source="DOID:903", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0740372 {source="DOID:903", source="MONDO:equivalentTo", source="NCIT:C38162"}
is_a: MONDO:0002516 {source="DOID:903", source="NCIT:C38162"} ! digestive system cancer
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C38162/inferred", source="linkedlifedata"} ! lymphoma
property_value: exactMatch DOID:903
property_value: exactMatch http://identifiers.org/snomedct/449072004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740372
property_value: exactMatch NCIT:C38162

[Term]
id: MONDO:0004700
name: parotid gland cancer
def: "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." [NCIT:C3525]
synonym: "cancer of parotid" EXACT [NCIT:C3525]
synonym: "cancer of parotid gland" EXACT [DOID:9036, MONDO:patterns/cancer, NCIT:C3525]
synonym: "cancer of the parotid" EXACT [NCIT:C3525]
synonym: "cancer of the parotid gland" EXACT [NCIT:C3525]
synonym: "malignant neoplasm of parotid" EXACT [NCIT:C3525]
synonym: "malignant neoplasm of parotid gland" EXACT [MONDO:patterns/cancer, NCIT:C3525]
synonym: "malignant neoplasm of the parotid" EXACT [DOID:9036, NCIT:C3525]
synonym: "malignant neoplasm of the parotid gland" EXACT [NCIT:C3525]
synonym: "malignant parotid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3525]
synonym: "malignant parotid gland tumor" EXACT [NCIT:C3525]
synonym: "malignant parotid neoplasm" EXACT [NCIT:C3525]
synonym: "malignant parotid tumor" EXACT [NCIT:C3525]
synonym: "malignant tumor of parotid" EXACT [NCIT:C3525]
synonym: "malignant tumor of parotid gland" EXACT [NCIT:C3525]
synonym: "malignant tumor of the parotid" EXACT [NCIT:C3525]
synonym: "malignant tumor of the parotid gland" EXACT [NCIT:C3525]
synonym: "parotid cancer" EXACT [DOID:9036]
synonym: "parotid gland cancer" EXACT [MONDO:patterns/location, NCIT:C3525]
xref: DOID:9036 {source="MONDO:equivalentTo"}
xref: ICD10:C07 {source="DOID:9036"}
xref: ICD9:142.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9036"}
xref: MESH:D010307 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9036"}
xref: NCIT:C3525 {source="MONDO:equivalentTo", source="DOID:9036"}
xref: SCTID:363379000 {source="MONDO:equivalentTo", source="DOID:9036", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0747273 {source="MONDO:equivalentTo", source="DOID:9036", source="NCIT:C3525"}
is_a: MONDO:0021243 {source="MONDO:Redundant", source="NCIT:C3525", source="linkedlifedata"} ! parotid gland neoplasm
is_a: MONDO:0044743 ! major salivary gland cancer
property_value: closeMatch http://identifiers.org/snomedct/93949007
property_value: exactMatch DOID:9036
property_value: exactMatch http://identifiers.org/mesh/D010307
property_value: exactMatch http://identifiers.org/snomedct/363379000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0747273
property_value: exactMatch NCIT:C3525

[Term]
id: MONDO:0004701
name: uterine polyp
def: "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." [NCIT:P378]
synonym: "endometrial/uterine polyp" EXACT [DOID:9042]
synonym: "polyp of corpus uteri" EXACT [DOID:9042]
synonym: "polyp of endometrium" EXACT [DOID:9042, NCIT:C6433]
synonym: "polyp of the uterus" EXACT [DOID:9042, NCIT:C3662]
synonym: "polyp of uterus" EXACT [NCIT:C3662]
synonym: "polyp, uterus" EXACT [DOID:9042, MTHICD9_2006:621.0]
synonym: "uterine polyp" EXACT [NCIT:C3662]
synonym: "uterus polyp" EXACT [MONDO:patterns/location, NCIT:C3662]
xref: COHD:200779 {source="MONDO:equivalentTo"}
xref: DOID:9042 {source="MONDO:equivalentTo"}
xref: ICD10:N84.0 {source="MONDO:equivalentTo", source="DOID:9042"}
xref: ICD9:621.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9042"}
xref: NCIT:C3662 {source="DesignPattern", source="MONDO:kboom-pr-0.94/0.76/1.51", source="MONDO:equivalentTo", source="DOID:9042"}
xref: SCTID:11314008 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:9042", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0156369 {source="MONDO:equivalentTo", source="NCIT:C3662", source="DOID:9042"}
is_a: MONDO:0002654 {source="DOID:9042", source="MONDO:Redundant", source="NCIT:C3662", source="indirect", source="linkedlifedata"} ! uterine disease
is_a: MONDO:0005079 {source="ICD10:N84.0", source="MONDO:Redundant", source="NCIT:C3662", source="linkedlifedata"} ! polyp
property_value: closeMatch http://identifiers.org/snomedct/266659005
property_value: exactMatch DOID:9042
property_value: exactMatch http://identifiers.org/snomedct/11314008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156369
property_value: exactMatch NCIT:C3662

[Term]
id: MONDO:0004702
name: uterine cervix leukoplakia
def: "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." [NCIT:P378]
synonym: "cervical leukoplakia" EXACT [NCIT:C3976]
synonym: "cervix leukoplakia" EXACT [NCIT:C3976]
synonym: "cervix uteri leukoplakia" EXACT [NCIT:C3976]
synonym: "leukoplakia of cervix" EXACT [NCIT:C3976]
synonym: "leukoplakia of cervix (uteri)" EXACT [DOID:9043]
synonym: "leukoplakia of cervix uteri" EXACT [DOID:9043, MTHICD9_2006:622.2]
synonym: "leukoplakia of the cervix" EXACT [NCIT:C3976]
synonym: "leukoplakia of the cervix uteri" EXACT [NCIT:C3976]
synonym: "leukoplakia of the uterine cervix" EXACT [DOID:9043, NCIT:C3976]
synonym: "leukoplakia of uterine cervix" EXACT [NCIT:C3976]
xref: DOID:9043 {source="MONDO:equivalentTo"}
xref: ICD10:N88.0 {source="MONDO:equivalentTo", source="DOID:9043"}
xref: ICD9:622.2 {source="DOID:9043"}
xref: NCIT:C3976 {source="MONDO:equivalentTo", source="DOID:9043", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:50923006 {source="MONDO:equivalentTo", source="DOID:9043"}
xref: UMLS:C0269194 {source="MONDO:equivalentTo", source="DOID:9043", source="NCIT:C3976"}
is_a: MONDO:0002256 {source="DOID:9043", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervix disease
is_a: MONDO:0043243 ! leukoplakia
property_value: exactMatch DOID:9043
property_value: exactMatch http://identifiers.org/snomedct/50923006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269194
property_value: exactMatch NCIT:C3976

[Term]
id: MONDO:0004703
name: bladder carcinoma in situ
def: "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" [NCIT:C3644]
synonym: "bladder Ca in situ" EXACT [DOID:9053]
synonym: "bladder flat carcinoma in situ" EXACT [NCIT:C3644]
synonym: "bladder flat CIS" EXACT [NCIT:C3644]
synonym: "cancer in situ of urinary bladder" BROAD [MONDO:DesignPattern]
synonym: "carcinoma in situ of bladder" EXACT [DOID:9053]
synonym: "carcinoma in situ of the urinary bladder" EXACT [NCIT:C3644]
synonym: "carcinoma in situ of urinary bladder" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3644]
synonym: "flat carcinoma in situ of the bladder" EXACT [NCIT:C3644]
synonym: "flat carcinoma in situ of the urinary bladder" EXACT [NCIT:C3644]
synonym: "flat CIS of the bladder" EXACT [NCIT:C3644]
synonym: "flat CIS of the urinary bladder" EXACT [DOID:9053, NCIT:C3644]
synonym: "high grade bladder Intraurothelial neoplasia" EXACT [NCIT:C3644]
synonym: "stage 0 urinary bladder carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is bladder cancer" EXACT [NCIT:C3644]
synonym: "stage 0is bladder carcinoma" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial cancer" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v6" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v6 and v7" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v7" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of the bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of the urinary bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of urinary bladder" EXACT [NCIT:C3644]
synonym: "stage 0is urinary bladder carcinoma" EXACT [NCIT:C3644]
synonym: "urinary bladder carcinoma in situ" EXACT []
synonym: "urinary bladder flat carcinoma in situ" EXACT [NCIT:C3644]
synonym: "urinary bladder flat CIS" EXACT [NCIT:C3644]
synonym: "urinary bladder in situ carcinoma" EXACT [MONDO:patterns/location]
xref: COHD:192855 {source="MONDO:equivalentTo"}
xref: DOID:9053 {source="MONDO:equivalentTo"}
xref: ICD10:D09.0 {source="MONDO:equivalentTo", source="DOID:9053"}
xref: ICD9:233.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:9053"}
xref: NCIT:C3644 {source="MONDO:equivalentTo", source="DOID:9053"}
xref: SCTID:92546004 {source="MONDO:equivalentTo", source="DOID:9053", source="MONDO:kboom-pr-1.00/0.80/8.96"}
xref: UMLS:C0154091 {source="MONDO:equivalentTo", source="DOID:9053", source="NCIT:C3644"}
is_a: MONDO:0003930 {source="NCIT:C3644"} ! non-invasive bladder urothelial carcinoma
is_a: MONDO:0004647 {source="DOID:9053", source="MONDO:Redundant", source="MONDOLEX:0004703", source="NCIT:C3644", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0006111 {source="NCIT:C3644"} ! bladder flat intraepithelial lesion
property_value: closeMatch http://identifiers.org/snomedct/269650008
property_value: exactMatch DOID:9053
property_value: exactMatch http://identifiers.org/snomedct/92546004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154091
property_value: exactMatch NCIT:C3644

[Term]
id: MONDO:0004704
name: obsolete peroxisomal disease
is_obsolete: true
replaced_by: MONDO:0019053

[Term]
id: MONDO:0004705
name: liver solitary fibrous tumor
def: "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." [NCIT:C5752]
synonym: "fibroma of liver" EXACT [NCIT:C5752]
synonym: "fibroma of the liver" EXACT [DOID:907, NCIT:C5752]
synonym: "hepatic fibroma" EXACT [NCIT:C5752]
synonym: "liver fibroma" EXACT [MONDO:patterns/location, NCIT:C5752]
synonym: "liver localized fibrous mesothelioma" EXACT [NCIT:C5752]
synonym: "liver localized fibrous tumor" EXACT [NCIT:C5752]
synonym: "liver solitary fibrous tumor" EXACT [NCIT:C5752]
xref: DOID:907 {source="MONDO:equivalentTo"}
xref: NCIT:C5752 {source="MONDO:equivalentTo", source="DOID:907"}
xref: UMLS:C1333965 {source="MONDO:equivalentTo", source="NCIT:C5752", source="DOID:907"}
is_a: MONDO:0004721 {source="DOID:907", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver neoplasm
is_a: MONDO:0005167 {source="DOID:907", source="MONDO:Entailed"} ! fibroma
is_a: MONDO:0016238 {source="MONDO:Redundant", source="MONDOLEX:0004705", source="NCIT:C5752"} ! solitary fibrous tumor
property_value: exactMatch DOID:907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333965
property_value: exactMatch NCIT:C5752

[Term]
id: MONDO:0004706
name: discoid lupus erythematosus of eyelid
xref: COHD:432919 {source="MONDO:equivalentTo"}
xref: DOID:9076 {source="MONDO:equivalentTo"}
xref: ICD10:H01.12 {source="DOID:9076"}
xref: ICD9:373.34 {source="MONDO:equivalentTo", source="DOID:9076", source="i2s"}
xref: SCTID:79291003 {source="MONDO:equivalentTo", source="DOID:9076", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155180 {source="MONDO:equivalentTo", source="DOID:9076"}
is_a: MONDO:0002137 {source="DOID:9076", source="linkedlifedata"} ! noninfectious dermatoses of eyelid
property_value: exactMatch DOID:9076
property_value: exactMatch http://identifiers.org/snomedct/79291003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155180

[Term]
id: MONDO:0004707
name: anal canal carcinoma in situ
def: "A carcinoma in situ involving a anal canal." [MONDO:patterns/carcinoma_in_situ]
synonym: "anal canal in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "anal carcinoma in situ" RELATED [DOID:9087]
synonym: "anal carcinoma stage 0" EXACT [DOID:9087, NCIT:C7794]
synonym: "anal intraepithelial neoplasia grade III" EXACT [DOID:9087]
synonym: "carcinoma in situ of anal canal" EXACT [DOID:9087, ICD9CM_2006:230.5, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of anus" EXACT [DOID:9087]
synonym: "stage 0 anal canal cancer" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v6" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 anal canal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal carcinoma in situ" EXACT [NCIT:C7794]
xref: DOID:9087 {source="MONDO:equivalentTo"}
xref: ICD9:230.5 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:230.6 {source="DOID:9087"}
xref: NCIT:C7794 {source="MONDO:equivalentTo"}
xref: SCTID:92531006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0154064 {source="NCIT:C7794", source="MONDO:equivalentTo", source="DOID:9087"}
xref: UMLS:C2242854 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004725 ! rectum carcinoma in situ
is_a: MONDO:0007108 {source="MONDO:Redundant", source="MONDOLEX:0004707", source="NCIT:C7794/inferred"} ! anal canal carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189233005
property_value: closeMatch http://identifiers.org/snomedct/20365006
property_value: closeMatch http://identifiers.org/snomedct/401311008
property_value: closeMatch http://identifiers.org/snomedct/92537005
property_value: exactMatch DOID:9087
property_value: exactMatch http://identifiers.org/snomedct/92531006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242854
property_value: exactMatch NCIT:C7794

[Term]
id: MONDO:0004708
name: esophagus carcinoma in situ
def: "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" [NCIT:P378]
synonym: "carcinoma in situ of esophagus" EXACT [DOID:9095, MONDO:patterns/carcinoma_in_situ]
synonym: "esophageal carcinoma in situ" EXACT [NCIT:C89771]
synonym: "esophageal carcinoma in situ aJCC v7" EXACT [NCIT:C89771]
synonym: "esophagus in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "severe esophageal dysplasia" EXACT [DOID:9095, NCIT:C89771]
synonym: "severe esophageal dysplasia aJCC v7" EXACT [NCIT:C89771]
synonym: "stage 0 carcinoma of the esophagus" EXACT [DOID:9095, NCIT:C3637]
synonym: "stage 0 esophageal cancer" EXACT [NCIT:C89771]
synonym: "stage 0 esophageal cancer aJCC v7" EXACT [NCIT:C89771]
synonym: "stage 0 esophageal carcinoma in situ" EXACT [NCIT:C89771]
synonym: "stage 0 esophagus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: COHD:28109 {source="MONDO:equivalentTo"}
xref: DOID:9095 {source="MONDO:equivalentTo"}
xref: ICD10:D00.1 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: ICD9:230.1 {source="MONDO:equivalentTo", source="DOID:9095", source="i2s"}
xref: NCIT:C89771 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: SCTID:92585006 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: UMLS:C0154059 {source="MONDO:equivalentTo", source="DOID:9095", source="NCIT:C89771"}
is_a: MONDO:0004647 {source="DOID:9095", source="MONDO:Redundant", source="MONDOLEX:0004708", source="NCIT:C89771/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0019086 {source="MONDO:Redundant", source="MONDOLEX:0004708", source="NCIT:C89771/inferred"} ! carcinoma of esophagus
property_value: closeMatch http://identifiers.org/snomedct/189217007
property_value: closeMatch http://identifiers.org/snomedct/308860001
property_value: exactMatch DOID:9095
property_value: exactMatch http://identifiers.org/snomedct/92585006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154059
property_value: exactMatch NCIT:C89771

[Term]
id: MONDO:0004709
name: occipital lobe neoplasm
def: "A neoplasm involving a occipital lobe." [MONDO:patterns/neoplasm]
synonym: "malignant neoplasm of occipital lobe" EXACT [DOID:910]
synonym: "neoplasm of occipital lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "neoplasm of the occipital lobe" EXACT [NCIT:C5574]
synonym: "occipital lobe neoplasm" EXACT [NCIT:C5574]
synonym: "occipital lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "occipital lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "tumor of occipital lobe" EXACT [DOID:910, MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "tumor of the occipital lobe" EXACT [NCIT:C5574]
xref: DOID:910 {source="MONDO:equivalentTo"}
xref: ICD10:C71.4 {source="DOID:910", source="MONDO:equivalentTo"}
xref: ICD9:191.4 {source="DOID:910"}
xref: NCIT:C5574 {source="DOID:910", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:126957005 {source="DOID:910", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153638 {source="DOID:910", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1263889 {source="DOID:910", source="NCIT:C5574", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5574", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
property_value: closeMatch http://identifiers.org/snomedct/363470000
property_value: closeMatch http://identifiers.org/snomedct/93928006
property_value: exactMatch DOID:910
property_value: exactMatch http://identifiers.org/snomedct/126957005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263889
property_value: exactMatch NCIT:C5574

[Term]
id: MONDO:0004710
name: uterus carcinoma in situ
def: "A carcinoma in situ involving a uterus." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of uterus" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 uterus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "uterus in situ carcinoma" EXACT [MONDO:patterns/location]
xref: COHD:192581 {source="MONDO:equivalentTo"}
xref: DOID:9108 {source="MONDO:equivalentTo"}
xref: ICD9:233.2 {source="DOID:9108", source="MONDO:relatedTo", source="i2s"}
xref: SCTID:92788005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C0686237 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="DOID:9108", source="MONDO:Redundant", source="MONDOLEX:0004710", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0005213 ! uterine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189342001
property_value: closeMatch http://identifiers.org/snomedct/269492005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154086
property_value: exactMatch DOID:9108
property_value: exactMatch http://identifiers.org/snomedct/92788005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686237

[Term]
id: MONDO:0004711
name: obsolete amyloidosis (disease)
is_obsolete: true
replaced_by: MONDO:0019065

[Term]
id: MONDO:0004712
name: herpes simplex dermatitis
def: "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection." [NCIT:C35620]
synonym: "eczema herpeticum" RELATED [DOID:9123]
synonym: "eczema herpeticum (disorder) [ambiguous]" EXACT [DOID:9123]
synonym: "Herpes simplex dermatitis" EXACT [NCIT:C35620]
synonym: "herpes simplex dermatitis" EXACT [DOID:9123]
synonym: "Herpes simplex dermatitis of eyelid" EXACT [DOID:9123]
synonym: "Herpes simplex eyelid dermatitis" EXACT [DOID:9123]
synonym: "Herpes simplex virus dermatitis" EXACT [DOID:9123]
synonym: "herpes simplex virus eyelid dermatitis" EXACT [DOID:9123]
synonym: "Simplexvirus caused dermatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus dermatitis" EXACT []
xref: DOID:9123 {source="MONDO:equivalentTo"}
xref: ICD10:B00.0 {source="MONDO:equivalentTo", source="DOID:9123"}
xref: ICD9:054.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9123"}
xref: ICD9:054.41 {source="DOID:9123"}
xref: MESH:D007617 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9123"}
xref: NCIT:C35620 {source="MONDO:equivalentTo", source="DOID:9123", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:186535001 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:9123"}
xref: UMLS:C0854331 {source="MONDO:equivalentTo", source="NCIT:C35620", source="DOID:9123"}
is_a: MONDO:0004609 {source="DOID:9123", source="ICD10:B00.0", source="MESH:D007617", source="MONDO:Entailed", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0021201 {source="MONDO:Redundant", source="NCIT:C35620", source="linkedlifedata/inferred"} ! skin infection
property_value: closeMatch http://identifiers.org/snomedct/186544000
property_value: closeMatch http://identifiers.org/snomedct/38875006
property_value: closeMatch http://identifiers.org/snomedct/52464003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153037
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0936250
property_value: exactMatch DOID:9123
property_value: exactMatch http://identifiers.org/mesh/D007617
property_value: exactMatch http://identifiers.org/snomedct/186535001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854331
property_value: exactMatch NCIT:C35620

[Term]
id: MONDO:0004713
name: lower gum cancer
def: "A cancer involving a gingiva of lower jaw." [MONDO:patterns/cancer]
synonym: "cancer of gingiva of lower jaw" EXACT [MONDO:patterns/cancer]
synonym: "gingiva of lower jaw cancer" EXACT [MONDO:patterns/location]
synonym: "malignant gingiva of lower jaw neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gingiva of lower jaw" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of lower gingiva" EXACT [DOID:9125]
synonym: "malignant tumour of lower gum" EXACT [DOID:9125]
xref: DOID:9125 {source="MONDO:equivalentTo"}
xref: ICD10:C03.1 {source="DOID:9125"}
xref: ICD9:143.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9125"}
xref: SCTID:363384006 {source="MONDO:equivalentTo", source="DOID:9125", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0432581 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9125"}
is_a: MONDO:0005507 {source="DOID:9125", source="MONDO:Redundant", source="MONDOLEX:0004713", source="linkedlifedata"} ! gingival cancer
property_value: closeMatch http://identifiers.org/snomedct/93873003
property_value: exactMatch DOID:9125
property_value: exactMatch http://identifiers.org/snomedct/363384006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432581

[Term]
id: MONDO:0004714
name: atrophic muscular disease
def: "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves." [NCIT:P378]
synonym: "atrophic muscular disorder" EXACT [NCIT:C84574]
xref: DOID:913 {source="MONDO:equivalentTo"}
xref: NCIT:C84574 {source="MONDO:equivalentTo", source="DOID:913"}
is_a: MONDO:0003939 {source="DOID:913"} ! muscle tissue disease
is_a: MONDO:0019056 {source="DOID:913"} ! neuromuscular disease
property_value: closeMatch http://identifiers.org/mesh/D020966
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752352
property_value: exactMatch DOID:913
property_value: exactMatch NCIT:C84574

[Term]
id: MONDO:0004715
name: liver carcinoma in situ
def: "A carcinoma in situ involving a liver." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of liver" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of liver and biliary system" EXACT [DOID:9132]
synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [DOID:9132, MTH:U001402]
synonym: "liver in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 liver carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9132 {source="MONDO:equivalentTo"}
xref: ICD10:D01.5 {source="MONDO:equivalentTo", source="DOID:9132"}
xref: ICD9:230.8 {source="DOID:9132"}
xref: SCTID:92644006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C0345908 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="DOID:9132", source="MONDO:Redundant", source="MONDOLEX:0004715", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0018531 ! carcinoma of liver and intrahepatic biliary tract
property_value: closeMatch http://identifiers.org/snomedct/189241005
property_value: closeMatch http://identifiers.org/snomedct/189247009
property_value: closeMatch http://identifiers.org/snomedct/271525004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496854
property_value: exactMatch DOID:9132
property_value: exactMatch http://identifiers.org/snomedct/92644006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345908

[Term]
id: MONDO:0004716
name: stomach carcinoma in situ
def: "A in situ carcinoma that involves the stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of stomach" EXACT [DOID:9138, MONDO:patterns/carcinoma_in_situ, NCIT:C7788]
synonym: "carcinoma in situ of the stomach" EXACT [NCIT:C7788]
synonym: "carcinoma of stomach stage 0" EXACT [NCIT:C7788]
synonym: "carcinoma of the stomach stage 0" EXACT [NCIT:C7788]
synonym: "gastric carcinoma in situ" EXACT [DOID:9138, NCIT:C7788]
synonym: "gastric carcinoma stage 0" EXACT [NCIT:C7788]
synonym: "gastric carcinoma, stage 0" EXACT [NCIT:C7788]
synonym: "stage 0 carcinoma of stomach" EXACT [NCIT:C7788]
synonym: "stage 0 carcinoma of the stomach" EXACT [NCIT:C7788]
synonym: "stage 0 gastric (stomach) cancer" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v6" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v6 and v7" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v7" EXACT [NCIT:C7788]
synonym: "stage 0 gastric carcinoma" EXACT [NCIT:C7788]
synonym: "stage 0 gastric carcinoma in situ" EXACT [NCIT:C7788]
synonym: "stage 0 stomach cancer" EXACT [NCIT:C7788]
synonym: "stage 0 stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C7788]
synonym: "stomach carcinoma in situ" EXACT [NCIT:C7788]
synonym: "stomach carcinoma stage 0" EXACT [NCIT:C7788]
synonym: "stomach in situ carcinoma" EXACT [MONDO:patterns/location]
xref: COHD:200974 {source="MONDO:equivalentTo"}
xref: DOID:9138 {source="MONDO:equivalentTo"}
xref: ICD10:D00.2 {source="DOID:9138", source="MONDO:equivalentTo"}
xref: ICD9:230.2 {source="DOID:9138", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7788 {source="DOID:9138", source="MONDO:equivalentTo"}
xref: SCTID:92756002 {source="DOID:9138", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.91/0.58"}
xref: UMLS:C0154060 {source="DOID:9138", source="MONDO:equivalentTo", source="NCIT:C7788"}
is_a: MONDO:0004647 {source="DOID:9138", source="MONDO:Redundant", source="MONDOLEX:0004716", source="NCIT:C7788/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0004950 ! gastric carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189223002
property_value: exactMatch DOID:9138
property_value: exactMatch http://identifiers.org/snomedct/92756002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154060
property_value: exactMatch NCIT:C7788

[Term]
id: MONDO:0004717
name: peliosis hepatis
def: "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." [MESH:D010382]
synonym: "hepatic peliosis" EXACT [DOID:914]
xref: DOID:914 {source="MONDO:equivalentTo"}
xref: EFO:1001387 {source="MONDO:equivalentTo"}
xref: ICD10:K76.4 {source="DOID:914", source="MONDO:equivalentTo"}
xref: MESH:D010382 {source="DOID:914", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:58008004 {source="DOID:914", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030781 {source="DOID:914", source="MONDO:equivalentTo"}
is_a: MONDO:0002405 {source="DOID:914", source="linkedlifedata"} ! hepatic vascular disease
property_value: closeMatch http://identifiers.org/snomedct/197366003
property_value: closeMatch http://identifiers.org/snomedct/240625009
property_value: exactMatch DOID:914
property_value: exactMatch http://identifiers.org/mesh/D010382
property_value: exactMatch http://identifiers.org/snomedct/58008004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030781

[Term]
id: MONDO:0004718
name: xeroderma of eyelid
xref: DOID:9140 {source="MONDO:equivalentTo"}
xref: ICD10:H01.14 {source="DOID:9140"}
xref: ICD9:373.33 {source="DOID:9140", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:55846006 {source="DOID:9140", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155179 {source="DOID:9140", source="MONDO:equivalentTo"}
is_a: MONDO:0002137 {source="DOID:9140", source="linkedlifedata"} ! noninfectious dermatoses of eyelid
property_value: exactMatch DOID:9140
property_value: exactMatch http://identifiers.org/snomedct/55846006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155179

[Term]
id: MONDO:0004719
name: hard palate cancer
def: "A malignant neoplasm involving the hard palate." [MONDO:DesignPattern]
synonym: "cancer of hard palate" EXACT [MONDO:patterns/cancer]
synonym: "hard palate" EXACT [DOID:9149, NCIT:C12230]
synonym: "hard palate cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hard palate neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant hard palate tumor" EXACT [NCIT:C3528]
synonym: "malignant neoplasm of hard palate" EXACT [DOID:9149, MONDO:patterns/cancer, MTH:U001235]
synonym: "malignant neoplasm of the hard palate" EXACT [NCIT:C3528]
synonym: "malignant tumor of hard palate" EXACT [NCIT:C3528]
synonym: "malignant tumor of the hard palate" EXACT [DOID:9149, NCIT:C3528]
synonym: "malignant tumour of hard palate" EXACT [DOID:9149]
xref: DOID:9149 {source="MONDO:equivalentTo"}
xref: ICD10:C05.0 {source="DOID:9149", source="MONDO:equivalentTo"}
xref: ICD9:145.2 {source="DOID:9149", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3528 {source="DOID:9149", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: SCTID:363387004 {source="DOID:9149", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153375 {source="DOID:9149", source="NCIT:C3528", source="MONDO:equivalentTo"}
is_a: MONDO:0005286 ! palatal neoplasm
is_a: MONDO:0005515 {source="DOID:9149", source="MONDO:Redundant", source="NCIT:C3528/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! oral cavity cancer
property_value: closeMatch http://identifiers.org/snomedct/93822006
property_value: exactMatch DOID:9149
property_value: exactMatch http://identifiers.org/snomedct/363387004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153375
property_value: exactMatch NCIT:C3528

[Term]
id: MONDO:0004720
name: variola minor infection
def: "A orthopoxvirus that causes a milder clinical syndrome than smallpox." [NCIT:P378]
synonym: "alastrim" EXACT [DOID:9153]
synonym: "cottonpox" EXACT [DOID:9153]
synonym: "milkpox" EXACT [DOID:9153]
synonym: "Variola minor" EXACT [DOID:9153, MTHICD9_2006:050.1]
synonym: "whitepox" EXACT [DOID:9153]
xref: DOID:9153 {source="MONDO:equivalentTo"}
xref: ICD9:050.1 {source="MONDO:equivalentTo", source="DOID:9153", source="i2s"}
xref: NCIT:C34365 {source="MONDO:equivalentTo", source="DOID:9153"}
xref: SCTID:72294005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00", source="DOID:9153"}
xref: UMLS:C0001906 {source="MONDO:equivalentTo", source="DOID:9153"}
is_a: MONDO:0004651 {source="DOID:9153", source="NCIT:C34365", source="linkedlifedata"} ! smallpox
property_value: exactMatch DOID:9153
property_value: exactMatch http://identifiers.org/snomedct/72294005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001906
property_value: exactMatch NCIT:C34365

[Term]
id: MONDO:0004721
name: liver neoplasm
def: "A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma." [NCIT:P378]
comment: Editor note: consider merging with liver and intrahepatic bile duct neoplasm
synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [DOID:916]
synonym: "liver and intrahepatic bile duct epithelial neoplasm" EXACT [NCIT:C7106]
synonym: "liver neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "liver tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of liver" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of liver" EXACT [MONDO:patterns/neoplasm]
xref: DOID:916 {source="MONDO:equivalentTo"}
xref: EFO:1001513 {source="MONDO:equivalentTo"}
xref: NCIT:C7106 {source="MONDO:equivalentTo", source="DOID:916"}
xref: ONCOTREE:LIVER {source="MONDO:equivalentTo"}
xref: SCTID:126851005 {source="MONDO:equivalentTo"}
xref: UMLS:C0023903 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002082 ! endocrine gland neoplasm
is_a: MONDO:0002514 {source="DOID:916", source="MONDO:Redundant", source="NCIT:C7106/inferred"} ! hepatobiliary neoplasm
is_a: MONDO:0005154 ! liver disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023884
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333419
property_value: closeMatch NCIT:C12392
property_value: exactMatch DOID:916
property_value: exactMatch http://identifiers.org/snomedct/126851005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023903
property_value: exactMatch NCIT:C7106

[Term]
id: MONDO:0004722
name: obsolete Wiskott-Aldrich syndrome
is_obsolete: true
replaced_by: MONDO:0010518

[Term]
id: MONDO:0004723
name: liver leiomyoma
def: "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5753]
synonym: "hepatic leiomyoma" EXACT [NCIT:C5753]
synonym: "leiomyoma of liver" EXACT [NCIT:C5753]
synonym: "leiomyoma of the liver" EXACT [DOID:917, NCIT:C5753]
synonym: "liver leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5753]
xref: DOID:917 {source="MONDO:equivalentTo"}
xref: NCIT:C5753 {source="MONDO:equivalentTo", source="DOID:917", source="exact-label-match"}
xref: UMLS:C1333968 {source="MONDO:equivalentTo", source="NCIT:C5753", source="DOID:917"}
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0001572 {source="DOID:917", source="MONDO:Redundant", source="NCIT:C5753"} ! leiomyoma
is_a: MONDO:0004721 {source="DOID:917", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver neoplasm
property_value: exactMatch DOID:917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333968
property_value: exactMatch NCIT:C5753

[Term]
id: MONDO:0004724
name: submandibular gland cancer
def: "A malignant neoplasm involving the submandibular gland." [MONDO:DesignPattern]
synonym: "cancer of submandibular gland" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of submandibular gland" EXACT [NCIT:C8396]
synonym: "carcinoma of the submandibular gland" EXACT [NCIT:C8396]
synonym: "malignant neoplasm of submandibular gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173, MTHICD9_2006:142.1]
synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173]
synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173, NCIT:C3526]
synonym: "submandibular gland cancer" EXACT [MONDO:patterns/location, NCIT:C8396]
synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396]
xref: COHD:22557 {source="MONDO:equivalentTo"}
xref: DOID:9173 {source="MONDO:equivalentTo"}
xref: ICD10:C08.0 {source="DOID:9173"}
xref: ICD9:142.1 {source="DOID:9173", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C8396 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: SCTID:363380002 {source="DOID:9173", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153360 {source="DOID:9173", source="MONDO:equivalentTo"}
is_a: MONDO:0006284 {source="NCIT:C8396"} ! major salivary gland carcinoma
is_a: MONDO:0021244 {source="MONDO:Redundant", source="NCIT:C8396/inferred", source="linkedlifedata"} ! submandibular gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/94077005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345607
property_value: closeMatch NCIT:C3526
property_value: exactMatch DOID:9173
property_value: exactMatch http://identifiers.org/snomedct/363380002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153360
property_value: exactMatch NCIT:C8396

[Term]
id: MONDO:0004725
name: rectum carcinoma in situ
def: "A in situ carcinoma that involves the rectum." [MONDO:patterns/location]
synonym: "carcinoma in situ of rectum" EXACT [DOID:9174, MONDO:patterns/carcinoma_in_situ, NCIT:C4853]
synonym: "carcinoma in situ of the rectum" EXACT [NCIT:C4853]
synonym: "marked dysplasia of rectum" EXACT [NCIT:C4853]
synonym: "marked dysplasia of the rectum" EXACT [NCIT:C4853]
synonym: "marked rectal dysplasia" EXACT [NCIT:C4853]
synonym: "rectal carcinoma in situ" EXACT [NCIT:C4853]
synonym: "rectum in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "severe dysplasia of rectum" EXACT [DOID:9174, NCIT:C4853]
synonym: "severe dysplasia of the rectum" EXACT [NCIT:C4853]
synonym: "severe rectal dysplasia" EXACT [DOID:9174, NCIT:C4853]
synonym: "stage 0 carcinoma of rectum" EXACT [NCIT:C4853]
synonym: "stage 0 carcinoma of the rectum" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v6" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v6 and v7" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v7" EXACT [NCIT:C4853]
synonym: "stage 0 rectal carcinoma" EXACT [NCIT:C4853]
synonym: "stage 0 rectum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: COHD:75210 {source="MONDO:equivalentTo"}
xref: DOID:9174 {source="MONDO:equivalentTo"}
xref: ICD10:D01.2 {source="MONDO:equivalentTo", source="DOID:9174"}
xref: ICD9:230.4 {source="DOID:9174"}
xref: NCIT:C4853 {source="MONDO:equivalentTo", source="DOID:9174"}
xref: SCTID:308879003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:9174"}
xref: UMLS:C0154062 {source="MONDO:equivalentTo", source="DOID:9174", source="NCIT:C4853"}
is_a: MONDO:0004698 ! intestine carcinoma in situ
is_a: MONDO:0044937 ! rectal carcinoma
property_value: closeMatch http://identifiers.org/snomedct/92696009
property_value: exactMatch DOID:9174
property_value: exactMatch http://identifiers.org/snomedct/308879003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154062
property_value: exactMatch NCIT:C4853

[Term]
id: MONDO:0004726
name: liver inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C5858]
synonym: "hepatic inflammatory myofibroblastic tumor" EXACT [NCIT:C5858]
synonym: "inflammatory pseudotumor of liver" EXACT [NCIT:C5858]
synonym: "inflammatory pseudotumor of the liver" EXACT [DOID:918, NCIT:C5858]
synonym: "liver inflammatory myofibroblastic tumor" EXACT [MONDO:0006269, MONDO:patterns/location, NCIT:C5858]
synonym: "liver inflammatory pseudotumor" EXACT [NCIT:C5858]
xref: DOID:918 {source="MONDO:equivalentTo"}
xref: EFO:1000324 {source="MONDO:equivalentTo"}
xref: NCIT:C5858 {source="MONDO:equivalentTo", source="EFO:1000324", source="DOID:918"}
xref: SCTID:717329009 {source="MONDO:equivalentTo"}
xref: UMLS:C1333967 {source="MONDO:equivalentTo", source="DOID:918", source="NCIT:C5858"}
is_a: MONDO:0004721 ! liver neoplasm
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C5858"} ! inflammatory myofibroblastic tumor
property_value: exactMatch DOID:918
property_value: exactMatch http://identifiers.org/snomedct/717329009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333967
property_value: exactMatch NCIT:C5858

[Term]
id: MONDO:0004727
name: vestibule of mouth cancer
def: "A cancer that involves the oral opening." [MONDO:patterns/location]
synonym: "cancer of oral opening" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of oral opening" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188]
synonym: "malignant oral opening neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vestibule of mouth" EXACT [DOID:9188, MTH:U001025]
synonym: "oral opening cancer" EXACT [MONDO:patterns/location]
xref: COHD:4090226 {source="MONDO:equivalentTo"}
xref: DOID:9188 {source="MONDO:equivalentTo"}
xref: ICD10:C06.1 {source="MONDO:equivalentTo", source="DOID:9188"}
xref: ICD9:145.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9188"}
xref: SCTID:187658004 {source="MONDO:equivalentTo", source="DOID:9188", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153374 {source="MONDO:equivalentTo", source="DOID:9188"}
is_a: MONDO:0005515 {source="DOID:9188", source="MONDOLEX:0004727", source="linkedlifedata"} ! oral cavity cancer
property_value: closeMatch http://identifiers.org/snomedct/187664006
property_value: closeMatch http://identifiers.org/snomedct/94138009
property_value: exactMatch DOID:9188
property_value: exactMatch http://identifiers.org/snomedct/187658004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153374

[Term]
id: MONDO:0004728
name: diabetic macular edema
xref: COHD:380097 {source="MONDO:equivalentTo"}
xref: DOID:9191 {source="MONDO:equivalentTo"}
xref: ICD9:362.07 {source="DOID:9191", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:312912001 {source="DOID:9191", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0730285 {source="DOID:9191", source="MONDO:equivalentTo"}
is_a: MONDO:0005266 {source="DOID:9191", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetic retinopathy
property_value: exactMatch DOID:9191
property_value: exactMatch http://identifiers.org/snomedct/312912001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730285

[Term]
id: MONDO:0004729
name: dyskinesia of esophagus
def: "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." [MESH:D015154]
synonym: "dyskinesia of oesophagus" EXACT [DOID:9192]
synonym: "esophageal dysmotility" EXACT [DOID:9192]
synonym: "esophageal motility disorder" EXACT [DOID:9192, MTH:NOCODE]
synonym: "oesophageal dysmotility" EXACT [DOID:9192]
synonym: "oesophageal motor disorder" EXACT [DOID:9192]
xref: DOID:9192 {source="MONDO:equivalentTo"}
xref: EFO:1001785 {source="MONDO:equivalentTo"}
xref: ICD10:K22.4 {source="DOID:9192", source="MONDO:equivalentTo"}
xref: ICD9:530.5 {source="DOID:9192"}
xref: MESH:D015154 {source="DOID:9192", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:266434009 {source="DOID:9192", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.74/1.57"}
xref: UMLS:C0014858 {source="DOID:9192", source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="DOID:9192", source="MESH:D015154/inferred", source="linkedlifedata"} ! esophageal disease
property_value: closeMatch http://identifiers.org/snomedct/196614005
property_value: closeMatch http://identifiers.org/snomedct/40846004
property_value: closeMatch http://identifiers.org/snomedct/61100004
property_value: closeMatch http://identifiers.org/snomedct/79962008
property_value: exactMatch DOID:9192
property_value: exactMatch http://identifiers.org/mesh/D015154
property_value: exactMatch http://identifiers.org/snomedct/266434009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014858

[Term]
id: MONDO:0004730
name: speech disorder
def: "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." [NCIT:P378]
synonym: "speech impediment or impairment" EXACT [NCIT:C5041]
xref: DOID:92 {source="MONDO:equivalentTo"}
xref: ICD9:784.40 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:784.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013064 {source="MONDO:equivalentTo", source="DOID:92"}
xref: NCIT:C5041 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:92"}
xref: SCTID:47004009 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo"}
xref: UMLS:C0037822 {source="NCIT:C5041", source="MONDO:equivalentTo", source="DOID:92"}
is_a: MONDO:0002182 {source="DOID:92", source="MESH:D013064/inferred", source="NCIT:C5041", source="linkedlifedata", source="linkedlifedata/inferred"} ! communication disorder
property_value: exactMatch DOID:92
property_value: exactMatch http://identifiers.org/mesh/D013064
property_value: exactMatch http://identifiers.org/snomedct/47004009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037822
property_value: exactMatch NCIT:C5041

[Term]
id: MONDO:0004731
name: central sleep apnea syndrome
def: "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." [NCIT:C27169]
synonym: "alveolar hypoventilation, central" RELATED [MESH:D020182]
synonym: "alveolar hypoventilations, central" RELATED [MESH:D020182]
synonym: "apnea, central" RELATED [MESH:D020182]
synonym: "apnea, central sleep" RELATED [MESH:D020182]
synonym: "apnea, sleep, central" RELATED [MESH:D020182]
synonym: "Apneas, central" RELATED [MESH:D020182]
synonym: "Apneas, central sleep" RELATED [MESH:D020182]
synonym: "breathing, central sleep-disordered" RELATED [MESH:D020182]
synonym: "Breathings, central sleep-disordered" RELATED [MESH:D020182]
synonym: "central alveolar hypoventilation" RELATED [MESH:D020182]
synonym: "central alveolar hypoventilation syndrome" RELATED [MESH:D020182]
synonym: "central apnea" RELATED [MESH:D020182]
synonym: "central Apneas" RELATED [MESH:D020182]
synonym: "central sleep apnea" RELATED [MESH:D020182]
synonym: "central sleep apnea syndrome" EXACT [DOID:9220, MESH:D020182, NCIT:C27169]
synonym: "central sleep apnea, primary" NARROW [MESH:D020182]
synonym: "central sleep apnea, secondary" RELATED [MESH:D020182]
synonym: "central sleep Apneas" RELATED [MESH:D020182]
synonym: "central sleep disordered breathing" RELATED [MESH:D020182]
synonym: "central sleep-disordered breathing" RELATED [MESH:D020182]
synonym: "central sleep-disordered Breathings" RELATED [MESH:D020182]
synonym: "hypoventilation, central alveolar" RELATED [MESH:D020182]
synonym: "hypoventilations, central alveolar" RELATED [MESH:D020182]
synonym: "ondine syndrome" RELATED [MESH:D020182]
synonym: "primary central sleep apnea" NARROW [DOID:9220]
synonym: "secondary central sleep apnea" NARROW [MESH:D020182]
synonym: "sleep apnea, lethal central" RELATED [MESH:D020182]
synonym: "sleep Apneas, central" RELATED [MESH:D020182]
synonym: "sleep disordered breathing, central" RELATED [MESH:D020182]
synonym: "sleep-disordered breathing, central" RELATED [MESH:D020182]
synonym: "sleep-disordered Breathings, central" RELATED [MESH:D020182]
xref: DOID:9220 {source="MONDO:equivalentTo"}
xref: ICD10:G47.31 {source="MONDO:superClassOf", source="DOID:9220"}
xref: ICD9:327.21 {source="MONDO:superClassOf", source="DOID:9220"}
xref: MESH:D020182 {source="MONDO:equivalentTo", source="DOID:9220"}
xref: NCIT:C27169 {source="MONDO:kboom-pr-1.00/0.78/6.53", source="MONDO:equivalentTo"}
xref: SCTID:27405005 {source="MONDO:equivalentTo"}
xref: UMLS:C3887547 {source="NCIT:C27169", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0004731", source="NCIT:C27169"} ! syndromic disease
is_a: MONDO:0005296 {source="DOID:9220", source="MESH:D020182", source="MONDOLEX:0004731", source="linkedlifedata"} ! sleep apnea syndrome
property_value: exactMatch DOID:9220
property_value: exactMatch http://identifiers.org/mesh/D020182
property_value: exactMatch http://identifiers.org/snomedct/27405005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887547
property_value: exactMatch NCIT:C27169

[Term]
id: MONDO:0004732
name: kidney carcinoma in situ
def: "A carcinoma in situ involving a kidney." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of kidney" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "kidney in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 kidney carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9234 {source="MONDO:equivalentTo"}
xref: ICD10:D09.1 {source="DOID:9234"}
xref: ICD9:233.9 {source="MONDO:relatedTo", source="i2s", source="DOID:9234"}
xref: SCTID:92624000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0686172 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="DOID:9234", source="MONDO:Redundant", source="MONDOLEX:0004732", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0005206 ! renal carcinoma
property_value: closeMatch http://identifiers.org/snomedct/190185006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154092
property_value: exactMatch DOID:9234
property_value: exactMatch http://identifiers.org/snomedct/92624000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686172

[Term]
id: MONDO:0004733
name: pyriform sinus cancer
def: "A primary or metastatic malignant neoplasm that affects the pyriform sinus." [NCIT:P378]
synonym: "malignant neoplasm of pyriform fossa" EXACT [DOID:9235, MTHICD9_2006:148.1]
synonym: "malignant neoplasm of pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant neoplasm of the pyriform fossa" EXACT [DOID:9235, NCIT:C3531]
synonym: "malignant neoplasm of the pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant pyriform fossa neoplasm" EXACT [NCIT:C3531]
synonym: "malignant pyriform fossa tumor" EXACT [NCIT:C3531]
synonym: "malignant pyriform sinus neoplasm" EXACT [NCIT:C3531]
synonym: "malignant pyriform sinus tumor" EXACT [NCIT:C3531]
synonym: "malignant tumor of pyriform fossa" EXACT [NCIT:C3531]
synonym: "malignant tumor of pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant tumor of the pyriform fossa" EXACT [NCIT:C3531]
synonym: "malignant tumor of the pyriform sinus" EXACT [NCIT:C3531]
xref: DOID:9235 {source="MONDO:equivalentTo"}
xref: ICD10:C12 {source="MONDO:equivalentTo", source="DOID:9235"}
xref: ICD9:148.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9235"}
xref: NCIT:C3531 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.08", source="DOID:9235"}
xref: SCTID:363401000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:9235"}
xref: UMLS:C0153400 {source="MONDO:equivalentTo", source="NCIT:C3531", source="DOID:9235"}
is_a: MONDO:0005806 {source="DOID:9235", source="NCIT:C3531"} ! hypopharynx cancer
property_value: closeMatch http://identifiers.org/snomedct/93978008
property_value: exactMatch DOID:9235
property_value: exactMatch http://identifiers.org/snomedct/363401000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153400
property_value: exactMatch NCIT:C3531

[Term]
id: MONDO:0004734
name: obsolete erythromelalgia
is_obsolete: true
replaced_by: MONDO:0016028

[Term]
id: MONDO:0004735
name: obsolete Alagille syndrome
is_obsolete: true

[Term]
id: MONDO:0004736
name: inherited amino acid metabolic disorder
def: "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." [NCIT:P378]
synonym: "amino acid metabolic disorder" RELATED [DOID:9252]
synonym: "amino acid metabolism, inborn errors" RELATED [GARD:0006770]
synonym: "inborn amino acid metabolism disorder" RELATED [GARD:0006770]
synonym: "inborn cellular amino acid metabolic process disorder" EXACT []
synonym: "inborn error of amino acid metabolism" EXACT []
synonym: "inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of amino acid metabolism" EXACT [DOID:9252]
synonym: "rare inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cellular amino acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:9252 {source="MONDO:equivalentTo"}
xref: GARD:0006770 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E72.9 {source="DOID:9252"}
xref: ICD9:270 {source="DOID:9252"}
xref: ICD9:270.9 {source="DOID:9252"}
xref: MESH:D000592 {source="MONDO:equivalentTo", source="DOID:9252", source="MONDO:ontobio"}
xref: SCTID:42930003 {source="MONDO:equivalentTo", source="DOID:9252"}
is_a: MONDO:0000688 ! inherited organic acidemia
is_a: MONDO:0037871 ! amino acid metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/154734005
property_value: closeMatch http://identifiers.org/snomedct/190680002
property_value: closeMatch http://identifiers.org/snomedct/190740001
property_value: closeMatch http://identifiers.org/snomedct/267496003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002514
property_value: exactMatch DOID:9252
property_value: exactMatch http://identifiers.org/mesh/D000592
property_value: exactMatch http://identifiers.org/snomedct/42930003

[Term]
id: MONDO:0004737
name: homocystinuria (disease)
def: "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." [NCIT:P378]
synonym: "CBS deficiency" NARROW [DOID:9263]
synonym: "cystathionine beta synthase deficiency" NARROW [DOID:9263]
synonym: "cystathionine synthase deficiency" NARROW [CSP2005:1849-0835, DOID:9263]
synonym: "homocystinuria" EXACT [MONDO:ambiguous]
xref: DOID:9263 {source="MONDO:equivalentTo"}
xref: GARD:0010770 {source="MONDO:equivalentTo"}
xref: HP:0002156 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E72.11 {source="MONDO:equivalentTo", source="DOID:9263"}
xref: NCIT:C84765 {source="MONDO:equivalentTo", source="DOID:9263", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:11282001 {source="MONDO:equivalentTo", source="DOID:9263", source="MONDO:kboom-pr-0.92/0.75/1.18"}
xref: UMLS:C0019880 {source="NCIT:C84765", source="MONDO:equivalentTo", source="DOID:9263"}
is_a: MONDO:0019222 ! inborn disorder of methionine cycle and sulfur amino acid metabolism
disjoint_from: MONDO:0017390 ! methylmalonic acidemia without homocystinuria
property_value: closeMatch http://identifiers.org/mesh/D006712
property_value: closeMatch http://identifiers.org/snomedct/190709008
property_value: exactMatch DOID:9263
property_value: exactMatch http://identifiers.org/snomedct/11282001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019880
property_value: exactMatch NCIT:C84765

[Term]
id: MONDO:0004738
name: histidine metabolism disease
def: "A disease that has its basis in the disruption of histidine metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of histidine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of histidine metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of histidine metabolism" EXACT []
synonym: "disturbance of histidine metabolism" EXACT []
synonym: "histidine metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:44176004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268512 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0037871 ! amino acid metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/44176004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268512

[Term]
id: MONDO:0004739
name: urea cycle disorder
def: "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." [NCIT:P378]
synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [DOID:9267]
synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM_2006:270.6]
synonym: "inborn urea cycle disorder" EXACT [NCIT:C84785]
synonym: "urea cycle defect" EXACT [DOID:9267]
synonym: "urea cycle metabolism disorder" EXACT [NCIT:C84785]
xref: COHD:434311 {source="MONDO:equivalentTo"}
xref: DOID:9267 {source="MONDO:equivalentTo"}
xref: ICD10:E72.2 {source="DOID:9267"}
xref: ICD10:E72.20 {source="DOID:9267"}
xref: ICD9:270.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:9267"}
xref: MESH:D056806 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9267"}
xref: NCIT:C84785 {source="MONDO:equivalentTo", source="DOID:9267", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:36444000 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo", source="DOID:9267"}
xref: UMLS:C0154246 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9267", source="NCIT:C84785"}
is_a: MONDO:0004736 {source="DOID:9267", source="MESH:D056806", source="MONDO:Entailed", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder
property_value: exactMatch DOID:9267
property_value: exactMatch http://identifiers.org/mesh/D056806
property_value: exactMatch http://identifiers.org/snomedct/36444000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154246
property_value: exactMatch NCIT:C84785

[Term]
id: MONDO:0004740
name: obsolete hyperlysinemia
is_obsolete: true
replaced_by: MONDO:0009388

[Term]
id: MONDO:0004741
name: tyrosinemia
def: "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." [NCIT:P378]
xref: DOID:9275 {source="MONDO:equivalentTo"}
xref: ICD10:E70.21 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020176 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: NCIT:C98640 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9275"}
xref: OMIMPS:276700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:190694001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9275"}
xref: UMLS:C0268483 {source="MONDO:equivalentTo", source="NCIT:C98640", source="DOID:9275"}
is_a: MONDO:0017307 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! disorder of tyrosine metabolism
property_value: exactMatch DOID:9275
property_value: exactMatch http://identifiers.org/mesh/D020176
property_value: exactMatch http://identifiers.org/snomedct/190694001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268483
property_value: exactMatch NCIT:C98640

[Term]
id: MONDO:0004742
name: primary cerebellar degeneration
def: "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." [MESH:D013132]
xref: COHD:436391 {source="MONDO:equivalentTo"}
xref: DOID:9277 {source="MONDO:equivalentTo"}
xref: ICD9:334.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9277"}
xref: SCTID:23732000 {source="MONDO:equivalentTo", source="DOID:9277", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0033132 {source="MONDO:equivalentTo", source="DOID:9277"}
is_a: MONDO:0022687 {source="MONDOLEX:0004742", source="linkedlifedata"} ! cerebellar degeneration
property_value: closeMatch http://identifiers.org/mesh/D013132
property_value: closeMatch http://identifiers.org/snomedct/192868000
property_value: closeMatch http://identifiers.org/snomedct/192872001
property_value: exactMatch DOID:9277
property_value: exactMatch http://identifiers.org/snomedct/23732000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033132

[Term]
id: MONDO:0004743
name: hyperhomocysteinemia
def: "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." [NCIT:P378]
xref: DOID:9279 {source="MONDO:equivalentTo"}
xref: MESH:D020138 {source="MONDO:equivalentTo", source="DOID:9279"}
xref: NCIT:C84770 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.80/0.11", source="DOID:9279"}
xref: SCTID:419503008 {source="MONDO:equivalentTo", source="DOID:9279"}
xref: UMLS:C0598608 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84770", source="DOID:9279"}
is_a: MONDO:0004737 {source="MONDO:Redundant", source="NCIT:C84770", source="OWLReasoner:2017"} ! homocystinuria (disease)
property_value: exactMatch DOID:9279
property_value: exactMatch http://identifiers.org/mesh/D020138
property_value: exactMatch http://identifiers.org/snomedct/419503008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598608
property_value: exactMatch NCIT:C84770

[Term]
id: MONDO:0004744
name: borderline glaucoma
synonym: "Preglaucoma" EXACT [DOID:9283]
xref: COHD:4102183 {source="MONDO:equivalentTo"}
xref: DOID:9283 {source="MONDO:equivalentTo"}
xref: ICD10:H40.00 {source="DOID:9283"}
xref: ICD9:365.00 {source="DOID:9283", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193531003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1533674 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:9283", source="linkedlifedata"} ! glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/193532005
property_value: closeMatch http://identifiers.org/snomedct/359633007
property_value: closeMatch http://identifiers.org/snomedct/47891005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0549470
property_value: exactMatch DOID:9283
property_value: exactMatch http://identifiers.org/snomedct/193531003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533674

[Term]
id: MONDO:0004745
name: priapism
def: "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." [NCIT:P378]
synonym: "Mentulagra" EXACT [DOID:9286]
xref: COHD:315586 {source="MONDO:equivalentTo"}
xref: DOID:9286 {source="MONDO:equivalentTo"}
xref: ICD10:N48.3 {source="MONDO:equivalentTo", source="DOID:9286"}
xref: ICD10:N48.30 {source="DOID:9286"}
xref: ICD9:607.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:9286"}
xref: MESH:D011317 {source="MONDO:equivalentTo", source="DOID:9286", source="MONDO:ontobio"}
xref: SCTID:6273006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9286"}
xref: UMLS:C0033117 {source="MONDO:equivalentTo", source="DOID:9286"}
is_a: MONDO:0005294 {source="DOID:9286"} ! peripheral vascular disease
is_a: MONDO:0005362 ! erectile dysfunction (disease)
property_value: closeMatch http://identifiers.org/snomedct/155930001
property_value: closeMatch http://identifiers.org/snomedct/198027001
property_value: closeMatch http://identifiers.org/snomedct/4287008
property_value: exactMatch DOID:9286
property_value: exactMatch http://identifiers.org/mesh/D011317
property_value: exactMatch http://identifiers.org/snomedct/6273006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033117
property_value: exactMatch NCIT:C85022

[Term]
id: MONDO:0004746
name: myopathy of extraocular muscle
def: "A myopathy that involves the extra-ocular muscle." [MONDO:patterns/location]
synonym: "extra-ocular muscle myopathy" EXACT [MONDO:patterns/location]
synonym: "myopathy of extra-ocular muscle" EXACT [MONDO:design_pattern]
synonym: "myopathy of extraocular muscles" EXACT [DOID:929]
xref: DOID:929 {source="MONDO:equivalentTo"}
xref: ICD10:H05.82 {source="DOID:929"}
xref: ICD9:376.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:929"}
xref: SCTID:57130002 {source="MONDO:equivalentTo", source="DOID:929", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155286 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:929"}
is_a: MONDO:0000462 ! eye adnexa disease
is_a: MONDO:0005336 {source="DOID:929", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy
is_a: MONDO:0020120 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! skeletal muscle disease
is_a: MONDO:0024458 ! disease of visual system
property_value: exactMatch DOID:929
property_value: exactMatch http://identifiers.org/snomedct/57130002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155286

[Term]
id: MONDO:0004747
name: cleft lip (disease)
def: "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." [NCIT:P378]
synonym: "cheiloschisis" EXACT [DOID:9296]
synonym: "cleft lip" EXACT [MONDO:ambiguous]
synonym: "cleft lip, unilateral, complete" EXACT [DOID:9296, ICD9CM_2006:749.11]
synonym: "complete unilateral cleft lip" EXACT [DOID:9296]
synonym: "hare lip" EXACT [CSP2005:0725-8436, DOID:9296]
synonym: "labium leporinum" EXACT [DOID:9296, MTHICD9_2006:749.1]
xref: COHD:133861 {source="MONDO:equivalentTo"}
xref: DOID:9296 {source="MONDO:equivalentTo"}
xref: EFO:0003959 {source="MONDO:equivalentTo", source="DOID:9296"}
xref: HP:0410030 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q36 {source="DOID:9296"}
xref: ICD10:Q36.9 {source="DOID:9296"}
xref: ICD9:749.1 {source="DOID:9296"}
xref: ICD9:749.10 {source="MONDO:equivalentTo", source="DOID:9296", source="i2s"}
xref: ICD9:749.11 {source="DOID:9296"}
xref: MESH:D002971 {source="MONDO:equivalentTo", source="DOID:9296", source="MONDO:ontobio"}
xref: NCIT:C87175 {source="MONDO:equivalentTo", source="DOID:9296", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:80281008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9296"}
is_a: MONDO:0000358 {source="DOID:9296", source="linkedlifedata"} ! orofacial cleft
property_value: closeMatch http://identifiers.org/snomedct/156941008
property_value: closeMatch http://identifiers.org/snomedct/204606000
property_value: closeMatch http://identifiers.org/snomedct/204609007
property_value: closeMatch http://identifiers.org/snomedct/62696001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158651
property_value: exactMatch DOID:9296
property_value: exactMatch http://identifiers.org/mesh/D002971
property_value: exactMatch http://identifiers.org/snomedct/80281008
property_value: exactMatch NCIT:C87175

[Term]
id: MONDO:0004748
name: lip disease
def: "A disease involving the lip." [MONDO:DesignPattern]
synonym: "disease of lip" EXACT [MONDO:patterns/location_top]
synonym: "disease of lips" EXACT [DOID:9297, ICD9CM_2006:528.5]
synonym: "disease or disorder of lip" EXACT []
synonym: "disorder of lip" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lip" RELATED [MONDO:patterns/location_top]
synonym: "lip disease" EXACT [MONDO:patterns/location]
synonym: "lip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lip disorder" EXACT [NCIT:C26818]
xref: DOID:9297 {source="MONDO:equivalentTo"}
xref: ICD10:K13.0 {source="DOID:9297"}
xref: ICD9:528.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9297"}
xref: MESH:D008047 {source="MONDO:equivalentTo", source="DOID:9297", source="MONDO:ontobio"}
xref: NCIT:C26818 {source="MONDO:equivalentTo", source="DOID:9297", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:90678009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58", source="DOID:9297"}
xref: UMLS:C0023760 {source="NCIT:C26818", source="MONDO:equivalentTo", source="DOID:9297"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0006858 {source="DOID:9297", source="MESH:D008047", source="MONDO:Redundant", source="NCIT:C26818", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
property_value: closeMatch http://identifiers.org/snomedct/196563002
property_value: exactMatch DOID:9297
property_value: exactMatch http://identifiers.org/mesh/D008047
property_value: exactMatch http://identifiers.org/snomedct/90678009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023760
property_value: exactMatch NCIT:C26818

[Term]
id: MONDO:0004749
name: myocardium cancer
def: "A malignant neoplasm involving the myocardium." [MONDO:DesignPattern]
synonym: "cancer of myocardium" EXACT [MONDO:patterns/cancer]
synonym: "malignant myocardial neoplasm" EXACT [NCIT:C4569]
synonym: "malignant myocardial tumor" EXACT [DOID:9299, NCIT:C4569]
synonym: "malignant myocardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of myocardium" EXACT [DOID:9299, MONDO:patterns/cancer, MTHICD9_2006:164.1, NCIT:C4569]
synonym: "malignant neoplasm of the myocardium" EXACT [NCIT:C4569]
synonym: "malignant tumor of myocardium" EXACT [NCIT:C4569]
synonym: "malignant tumor of the myocardium" EXACT [NCIT:C4569]
synonym: "myocardium cancer" EXACT [MONDO:patterns/location]
synonym: "tumor of myocardium" EXACT [DOID:9299, NCIT:C5349]
xref: DOID:9299 {source="MONDO:equivalentTo"}
xref: NCIT:C4569 {source="MONDO:equivalentTo", source="DOID:9299", source="MONDO:kboom-pr-0.89/0.76/0.10"}
xref: UMLS:C0346611 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9299", source="NCIT:C4569"}
is_a: MONDO:0000637 ! musculoskeletal system cancer
is_a: MONDO:0001340 {source="DOID:9299", source="MONDO:Redundant", source="NCIT:C4569"} ! heart cancer
is_a: MONDO:0021380 {source="MONDO:Redundant", source="NCIT:C4569"} ! neoplasm of myocardium
property_value: closeMatch http://identifiers.org/snomedct/363437005
property_value: closeMatch http://identifiers.org/snomedct/93914000
property_value: exactMatch DOID:9299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346611
property_value: exactMatch NCIT:C4569

[Term]
id: MONDO:0004750
name: language disorder
def: "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." [NCIT:P378]
xref: DOID:93 {source="MONDO:equivalentTo"}
xref: EFO:0005425 {source="MONDO:equivalentTo"}
xref: HP:0002463 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F80.9 {source="DOID:93"}
xref: MESH:D007806 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:93"}
xref: NCIT:C97155 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:93"}
is_a: MONDO:0002182 {source="DOID:93", source="MESH:D007806"} ! communication disorder
property_value: closeMatch http://identifiers.org/snomedct/62305002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023015
property_value: exactMatch DOID:93
property_value: exactMatch http://identifiers.org/mesh/D007806
property_value: exactMatch NCIT:C97155

[Term]
id: MONDO:0004751
name: disease of orbital part of eye adnexa
def: "Diseases of the bony orbit and contents except the eyeball." [MESH:D009916]
comment: Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa
synonym: "orbital disease" RELATED [DOID:930]
xref: DOID:930 {source="MONDO:equivalentTo"}
xref: ICD10:H05 {source="DOID:930"}
xref: ICD10:H05.9 {source="DOID:930"}
xref: ICD9:376 {source="DOID:930"}
xref: ICD9:376.9 {source="DOID:930"}
xref: MESH:D009916 {source="DOID:930", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0029182 {source="DOID:930", source="MONDO:equivalentTo"}
is_a: MONDO:0000462 {source="DOID:930"} ! eye adnexa disease
property_value: closeMatch http://identifiers.org/snomedct/11270005
property_value: closeMatch http://identifiers.org/snomedct/155200004
property_value: closeMatch http://identifiers.org/snomedct/194036005
property_value: closeMatch http://identifiers.org/snomedct/267746003
property_value: exactMatch DOID:930
property_value: exactMatch http://identifiers.org/mesh/D009916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029182

[Term]
id: MONDO:0004752
name: neurofibroma of the heart
def: "A rare neurofibroma that affects the heart." [NCIT:P378]
synonym: "Cardiac neurofibroma" EXACT [NCIT:C5359]
synonym: "heart neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5359]
synonym: "neurofibroma of heart" EXACT [DOID:9300, NCIT:C5359]
synonym: "neurofibroma of the heart" EXACT [NCIT:C5359]
xref: DOID:9300 {source="MONDO:equivalentTo"}
xref: NCIT:C5359 {source="MONDO:equivalentTo", source="DOID:9300", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1096349 {source="MONDO:equivalentTo", source="NCIT:C5359", source="DOID:9300"}
is_a: MONDO:0001340 {source="DOID:9300", source="MONDO:Entailed"} ! heart cancer
is_a: MONDO:0016755 {source="DOID:9300", source="MONDO:Redundant", source="NCIT:C5359"} ! neurofibroma
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:9300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096349
property_value: exactMatch NCIT:C5359

[Term]
id: MONDO:0004753
name: mechanical strabismus
comment: May be ceded to HPO
xref: COHD:378157 {source="MONDO:equivalentTo"}
xref: DOID:9306 {source="MONDO:equivalentTo"}
xref: ICD10:H50.6 {source="DOID:9306", source="MONDO:equivalentTo"}
xref: ICD10:H50.60 {source="DOID:9306"}
xref: ICD9:378.6 {source="DOID:9306"}
xref: ICD9:378.60 {source="DOID:9306", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:5371001 {source="DOID:9306", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152223 {source="DOID:9306", source="MONDO:equivalentTo"}
is_a: MONDO:0003432 {source="DOID:9306", source="linkedlifedata"} ! strabismus
property_value: closeMatch http://identifiers.org/mesh/D013285
property_value: closeMatch http://identifiers.org/snomedct/194121009
property_value: closeMatch http://identifiers.org/snomedct/194124001
property_value: exactMatch DOID:9306
property_value: exactMatch http://identifiers.org/snomedct/5371001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152223

[Term]
id: MONDO:0004754
name: rectal prolapse (disease)
def: "Protrusion of the rectum through the anus." [NCIT:P378]
synonym: "procidentia, rectum" EXACT [DOID:9307, MTHICD9_2006:569.1]
synonym: "rectal prolapse" EXACT [MONDO:ambiguous]
xref: DOID:9307 {source="MONDO:equivalentTo"}
xref: HP:0002035 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K62.3 {source="DOID:9307", source="MONDO:equivalentTo"}
xref: ICD9:569.1 {source="DOID:9307"}
xref: NCIT:C34973 {source="DOID:9307", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0034888 {source="DOID:9307", source="MONDO:equivalentTo", source="NCIT:C34973", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0001593 {source="DOID:9307"} ! rectal disease
property_value: closeMatch http://identifiers.org/mesh/D012005
property_value: closeMatch http://identifiers.org/snomedct/155802002
property_value: closeMatch http://identifiers.org/snomedct/197212009
property_value: closeMatch http://identifiers.org/snomedct/197214005
property_value: closeMatch http://identifiers.org/snomedct/197215006
property_value: closeMatch http://identifiers.org/snomedct/57773001
property_value: exactMatch DOID:9307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034888
property_value: exactMatch NCIT:C34973

[Term]
id: MONDO:0004755
name: monieziasis
def: "Infection of ruminants with tapeworms of the genus Moniezia." [MESH:D008989]
xref: DOID:931 {source="MONDO:equivalentTo"}
xref: EFO:1001372 {source="MONDO:equivalentTo"}
xref: MESH:D008989 {source="DOID:931", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0026414 {source="DOID:931", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:931", source="MESH:D008989/inferred"} ! helminthiasis
property_value: exactMatch DOID:931
property_value: exactMatch http://identifiers.org/mesh/D008989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026414

[Term]
id: MONDO:0004756
name: nasal cavity neoplasm
def: "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4413]
synonym: "nasal cavity neoplasm" EXACT [NCIT:C4413]
synonym: "nasal cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nasal cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "neoplasm of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "neoplasm of the nasal cavity" EXACT [NCIT:C4413]
synonym: "tumor of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "tumor of the nasal cavity" EXACT [DOID:9310, NCIT:C4413]
xref: DOID:9310 {source="MONDO:equivalentTo"}
xref: NCIT:C4413 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:9310"}
xref: SCTID:126670003 {source="MONDO:equivalentTo", source="DOID:9310", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0345630 {source="MONDO:equivalentTo", source="NCIT:C4413", source="DOID:9310"}
is_a: MONDO:0002232 {source="DOID:9310", source="MONDO:Redundant", source="NCIT:C4413", source="linkedlifedata"} ! nasal cavity disease
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4413/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0020641 ! respiratory tract neoplasm
property_value: exactMatch DOID:9310
property_value: exactMatch http://identifiers.org/snomedct/126670003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345630
property_value: exactMatch NCIT:C4413

[Term]
id: MONDO:0004757
name: chronic ethmoidal sinusitis
def: "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:C34472]
synonym: "chronic ethmoid sinusitis" EXACT [DOID:9312]
synonym: "chronic ethmoidal sinusitis" EXACT [DOID:9312, NCIT:C34472]
synonym: "chronic ethmoiditis" RELATED [DOID:9312]
synonym: "ethmoid sinusitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "ethmoidal sinusitis - chronic" EXACT [DOID:9312]
xref: COHD:132932 {source="MONDO:equivalentTo"}
xref: DOID:9312 {source="MONDO:equivalentTo"}
xref: ICD10:J32.2 {source="MONDO:equivalentTo", source="DOID:9312"}
xref: ICD9:473.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9312"}
xref: NCIT:C34472 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9312"}
xref: SCTID:73237007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9312"}
xref: UMLS:C0008681 {source="NCIT:C34472", source="MONDO:equivalentTo", source="DOID:9312"}
is_a: MONDO:0005756 {source="DOID:9312", source="MONDO:Redundant", source="MONDOLEX:0004757", source="NCIT:C34472", source="linkedlifedata"} ! ethmoid sinusitis
is_a: MONDO:0006031 {source="MONDO:Redundant", source="NCIT:C34472", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic rhinosinusitis
property_value: closeMatch http://identifiers.org/snomedct/155528009
property_value: closeMatch http://identifiers.org/snomedct/266384001
property_value: exactMatch DOID:9312
property_value: exactMatch http://identifiers.org/snomedct/73237007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008681
property_value: exactMatch NCIT:C34472

[Term]
id: MONDO:0004758
name: scotoma (disease)
def: "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." [MESH:D012607]
synonym: "blind spot area scotoma" EXACT [DOID:9335]
synonym: "enlarged angioscotoma" EXACT [DOID:9335, MTHICD9_2006:368.42]
synonym: "enlarged blind spot" EXACT [DOID:9335]
synonym: "enlarged paracaecal scotoma" EXACT [DOID:9335]
synonym: "generalized visual field contraction or constriction" EXACT [DOID:9335]
synonym: "scotoma" EXACT [MONDO:ambiguous]
synonym: "scotoma of blind spot area" EXACT [DOID:9335, ICD9CM_2006:368.42]
synonym: "sector or arcuate visual field defects" EXACT [DOID:9335]
xref: DOID:9335 {source="MONDO:equivalentTo"}
xref: HP:0000575 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H53.42 {source="DOID:9335"}
xref: ICD10:H53.43 {source="DOID:9335"}
xref: ICD10:H53.45 {source="DOID:9335"}
xref: ICD9:368.42 {source="DOID:9335"}
xref: ICD9:368.43 {source="DOID:9335"}
xref: ICD9:368.44 {source="DOID:9335"}
xref: ICD9:368.45 {source="DOID:9335"}
xref: MESH:D012607 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0005328 {source="DOID:9335", source="MESH:D012607/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/193673000
property_value: closeMatch http://identifiers.org/snomedct/33970004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029657
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152192
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155011
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155012
property_value: exactMatch DOID:9335
property_value: exactMatch http://identifiers.org/mesh/D012607

[Term]
id: MONDO:0004759
name: bestiality
synonym: "zoophilia" EXACT [DOID:9336, ICD9CM_2006:302.1]
xref: COHD:438999 {source="MONDO:equivalentTo"}
xref: DOID:9336 {source="MONDO:equivalentTo"}
xref: ICD9:302.1 {source="DOID:9336", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:81463002 {source="DOID:9336", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000596 {source="DOID:9336", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraphilic disorder
property_value: closeMatch http://identifiers.org/snomedct/154907002
property_value: closeMatch http://identifiers.org/snomedct/268763002
property_value: closeMatch http://identifiers.org/snomedct/31997002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152186
property_value: exactMatch DOID:9336
property_value: exactMatch http://identifiers.org/snomedct/81463002

[Term]
id: MONDO:0004760
name: urethral false passage
xref: COHD:196465 {source="MONDO:equivalentTo"}
xref: DOID:9339 {source="MONDO:equivalentTo"}
xref: ICD10:N36.5 {source="DOID:9339", source="MONDO:equivalentTo"}
xref: ICD9:599.4 {source="DOID:9339", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:74944002 {source="DOID:9339", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004184 {source="DOID:9339", source="linkedlifedata/inferred"} ! urethral disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156286
property_value: exactMatch DOID:9339
property_value: exactMatch http://identifiers.org/snomedct/74944002

[Term]
id: MONDO:0004761
name: obsolete urethral diverticulum (disease)
comment: Obsoleted as it represents a finding or phenotypic feature
xref: DOID:9341 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:N36.1 {source="DOID:9341"}
xref: ICD9:599.2 {source="DOID:9341"}
property_value: closeMatch http://identifiers.org/snomedct/90531003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152443
property_value: exactMatch DOID:9341
is_obsolete: true
replaced_by: HP:0008722 {source="ontobio"}
consider: NCIT:C39861 {source="DOID:9341"}

[Term]
id: MONDO:0004762
name: Taylor syndrome
synonym: "congestion-fibrosis syndrome" EXACT [DOID:9346, MTHICD9_2006:625.5]
synonym: "pelvic congestion syndrome" EXACT [DOID:9346, ICD9CM_2006:625.5]
synonym: "Taylor's syndrome" EXACT [DOID:9346]
xref: COHD:201347 {source="MONDO:equivalentTo"}
xref: DOID:9346 {source="MONDO:equivalentTo"}
xref: ICD9:625.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9346"}
xref: SCTID:39402007 {source="MONDO:equivalentTo", source="DOID:9346", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152078 {source="MONDO:equivalentTo", source="DOID:9346"}
is_a: MONDO:0002654 {source="DOID:9346", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/156027002
property_value: exactMatch DOID:9346
property_value: exactMatch http://identifiers.org/snomedct/39402007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152078

[Term]
id: MONDO:0004763
name: carotid artery dissection
def: "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." [NCIT:C125662]
synonym: "dissection of carotid artery" EXACT [DOID:9348, ICD9CM_2006:443.21]
xref: DOID:9348 {source="MONDO:equivalentTo"}
xref: ICD10:I77.71 {source="DOID:9348", source="MONDO:equivalentTo"}
xref: ICD9:443.21 {source="DOID:9348"}
xref: NCIT:C125662 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:720626009 {source="MONDO:equivalentTo"}
xref: UMLS:C0338585 {source="DOID:9348", source="MONDO:equivalentTo", source="NCIT:C125662"}
is_a: MONDO:0005269 {source="DOID:9348", source="NCIT:C125662"} ! carotid artery disease
property_value: closeMatch http://identifiers.org/snomedct/230729006
property_value: exactMatch DOID:9348
property_value: exactMatch http://identifiers.org/snomedct/720626009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338585
property_value: exactMatch NCIT:C125662

[Term]
id: MONDO:0004764
name: fibular collateral ligament bursitis
xref: DOID:9358 {source="MONDO:equivalentTo"}
xref: ICD9:726.63 {source="DOID:9358", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:77323000 {source="DOID:9358", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0158316 {source="DOID:9358", source="MONDO:equivalentTo"}
is_a: MONDO:0002183 {source="DOID:9358"} ! enthesopathy
property_value: closeMatch http://identifiers.org/snomedct/202870007
property_value: exactMatch DOID:9358
property_value: exactMatch http://identifiers.org/snomedct/77323000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158316

[Term]
id: MONDO:0004765
name: intrinsic asthma
def: "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." [DOID:9360, http://www.aafa.org/display.cfm?id=8&sub=17, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf]
xref: COHD:4145497 {source="MONDO:equivalentTo"}
xref: DOID:9360 {source="MONDO:equivalentTo"}
xref: ICD10:J45 {source="MONDO:subClassOf", source="DOID:9360"}
xref: ICD9:493.1 {source="DOID:9360"}
xref: SCTID:266361008 {source="DOID:9360", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155880 {source="DOID:9360", source="MONDO:equivalentTo"}
is_a: MONDO:0004979 {source="DOID:9360"} ! asthma
disjoint_from: MONDO:0004784 ! allergic asthma
property_value: closeMatch http://identifiers.org/snomedct/155576005
property_value: closeMatch http://identifiers.org/snomedct/195973000
property_value: closeMatch http://identifiers.org/snomedct/195976008
property_value: closeMatch http://identifiers.org/snomedct/266397004
property_value: closeMatch http://identifiers.org/snomedct/8312004
property_value: exactMatch DOID:9360
property_value: exactMatch http://identifiers.org/snomedct/266361008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155880

[Term]
id: MONDO:0004766
name: status asthmaticus
def: "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." [NCIT:P378]
synonym: "asthma with status asthmaticus" EXACT [DOID:9362]
synonym: "severe asthma attack" EXACT [DOID:9362]
xref: COHD:45769438 {source="MONDO:equivalentTo"}
xref: DOID:9362 {source="MONDO:equivalentTo"}
xref: EFO:0008590 {source="MONDO:equivalentTo"}
xref: ICD10:J46 {source="MONDO:equivalentTo"}
xref: ICD9:493.91 {source="MONDO:equivalentTo", source="DOID:9362", source="i2s"}
xref: MESH:D013224 {source="MONDO:equivalentTo", source="DOID:9362", source="MONDO:ontobio"}
xref: NCIT:C122577 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:9362"}
xref: SCTID:708090002 {source="MONDO:equivalentTo", source="DOID:9362", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038218 {source="MONDO:equivalentTo", source="DOID:9362", source="NCIT:C122577"}
is_a: MONDO:0004979 {source="DOID:9362", source="EFO:0008590", source="MESH:D013224", source="NCIT:C122577"} ! asthma
property_value: closeMatch http://identifiers.org/snomedct/155577001
property_value: closeMatch http://identifiers.org/snomedct/195980003
property_value: closeMatch http://identifiers.org/snomedct/266363006
property_value: closeMatch http://identifiers.org/snomedct/36979006
property_value: closeMatch http://identifiers.org/snomedct/57546000
property_value: exactMatch DOID:9362
property_value: exactMatch http://identifiers.org/mesh/D013224
property_value: exactMatch http://identifiers.org/snomedct/708090002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038218
property_value: exactMatch NCIT:C122577

[Term]
id: MONDO:0004767
name: vesiculitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gland, seminal vesicle" EXACT [NCIT:C12787]
synonym: "inflammation of seminal vesicle" EXACT []
synonym: "seminal Sacs" EXACT [NCIT:C12787]
synonym: "seminal vesicle" EXACT [NCIT:C12787]
synonym: "seminal vesicle inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "seminal vesicles" EXACT [NCIT:C12787]
synonym: "seminal vesiculitis" EXACT [DOID:9365, ICD9CM_2006:608.0]
xref: COHD:200148 {source="MONDO:equivalentTo"}
xref: DOID:9365 {source="MONDO:equivalentTo"}
xref: ICD10:N49.0 {source="DOID:9365"}
xref: ICD9:608.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9365"}
xref: NCIT:C12787 {source="MONDO:equivalentTo"}
xref: SCTID:27001009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9365"}
xref: UMLS:C0042588 {source="MONDO:equivalentTo", source="DOID:9365"}
is_a: MONDO:0006882 ! orchitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155935006
property_value: closeMatch http://identifiers.org/snomedct/198043008
property_value: closeMatch http://identifiers.org/snomedct/198044002
property_value: exactMatch DOID:9365
property_value: exactMatch http://identifiers.org/snomedct/27001009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042588
property_value: exactMatch NCIT:C12787

[Term]
id: MONDO:0004768
name: keratoconjunctivitis
def: "Inflammation of both the cornea and the conjunctiva." [NCIT:P378]
xref: COHD:380397 {source="MONDO:equivalentTo"}
xref: DOID:9368 {source="MONDO:equivalentTo"}
xref: ICD10:H16.2 {source="MONDO:equivalentTo", source="DOID:9368"}
xref: ICD10:H16.20 {source="DOID:9368"}
xref: ICD9:370.40 {source="MONDO:equivalentTo", source="i2s", source="DOID:9368"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007637 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9368"}
xref: NCIT:C34744 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9368"}
xref: SCTID:88151007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9368"}
xref: UMLS:C0022573 {source="MONDO:equivalentTo", source="NCIT:C34744", source="DOID:9368"}
is_a: MONDO:0003085 {source="ICD10:H16.2", source="MESH:D007637", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! keratitis
is_a: MONDO:0003799 {source="MESH:D007637", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! conjunctivitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155154005
property_value: closeMatch http://identifiers.org/snomedct/193757003
property_value: closeMatch http://identifiers.org/snomedct/193780006
property_value: exactMatch DOID:9368
property_value: exactMatch http://identifiers.org/mesh/D007637
property_value: exactMatch http://identifiers.org/snomedct/88151007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022573
property_value: exactMatch NCIT:C34744

[Term]
id: MONDO:0004769
name: orbital plasma cell granuloma
def: "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." [MESH:D016727]
comment: Editor note: check relationship to orbotral granuloma
synonym: "granuloma, plasma cell, orbital" RELATED [MESH:D016727]
synonym: "inflammatory pseudotumor of orbit" RELATED [MESH:D016727]
synonym: "inflammatory pseudotumor, orbital" RELATED [MESH:D016727]
synonym: "inflammatory pseudotumors, orbital" RELATED [MESH:D016727]
synonym: "orbital granuloma, plasma cell" RELATED [MESH:D016727]
synonym: "orbital inflammatory pseudotumor" RELATED [MESH:D016727]
synonym: "orbital inflammatory pseudotumors" RELATED [MESH:D016727]
synonym: "orbital myositis" EXACT [DOID:9369, ICD9CM_2006:376.12]
synonym: "orbital pseudotumors" RELATED [MESH:D016727]
synonym: "plasma cell granuloma, orbital" RELATED [MESH:D016727]
synonym: "pseudotumor of orbit" EXACT [DOID:9369, MTHICD9_2006:376.11]
synonym: "pseudotumor, inflammatory, orbital" RELATED [MESH:D016727]
synonym: "pseudotumor, orbital" RELATED [MESH:D016727]
synonym: "pseudotumor, orbital inflammatory" RELATED [MESH:D016727]
synonym: "pseudotumors, orbital" RELATED [MESH:D016727]
xref: COHD:433774 {source="MONDO:equivalentTo"}
xref: DOID:9369 {source="MONDO:equivalentTo"}
xref: ICD10:H05.11 {source="DOID:9369"}
xref: ICD9:376.12 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016727 {source="DOID:9369", source="MONDO:equivalentTo"}
xref: NCIT:C117296 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:72789009 {source="DOID:9369", source="MONDO:equivalentTo"}
xref: SCTID:80698001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.82"}
is_a: MONDO:0001849 {source="DOID:9369", source="linkedlifedata"} ! chronic orbital inflammation
is_a: MONDO:0021167 {source="MONDOLEX:0004769", source="NCIT:C117296", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis
property_value: closeMatch http://identifiers.org/snomedct/302901005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085270
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2350476
property_value: exactMatch DOID:9369
property_value: exactMatch http://identifiers.org/mesh/D016727
property_value: exactMatch http://identifiers.org/snomedct/72789009
property_value: exactMatch http://identifiers.org/snomedct/80698001
property_value: exactMatch NCIT:C117296

[Term]
id: MONDO:0004770
name: exophthalmos (disease)
def: "The anterior displacement of the eye within the orbit, giving a bulging appearance." [NCIT:P378]
synonym: "exophthalmos" EXACT [MONDO:ambiguous]
synonym: "proptosis" EXACT [CSP2005:1114-8967, DOID:9370]
xref: COHD:436700 {source="MONDO:equivalentTo"}
xref: DOID:9370 {source="MONDO:equivalentTo"}
xref: HP:0000520 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H05.20 {source="DOID:9370"}
xref: ICD9:376.30 {source="MONDO:equivalentTo", source="DOID:9370", source="i2s"}
xref: MESH:D005094 {source="MONDO:equivalentTo", source="DOID:9370", source="MONDO:ontobio"}
xref: NCIT:C118763 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy", source="DOID:9370"}
xref: SCTID:18265008 {source="MONDO:kboom-pr-1.00/0.84/14.71", source="MONDO:equivalentTo", source="DOID:9370"}
xref: UMLS:C0015300 {source="MONDO:equivalentTo", source="DOID:9370"}
is_a: MONDO:0005328 {source="DOID:9370", source="MESH:D005094/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155200004
property_value: closeMatch http://identifiers.org/snomedct/267746003
property_value: exactMatch DOID:9370
property_value: exactMatch http://identifiers.org/mesh/D005094
property_value: exactMatch http://identifiers.org/snomedct/18265008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015300
property_value: exactMatch NCIT:C118763
property_value: exactMatch NCIT:C87114

[Term]
id: MONDO:0004771
name: Fuchs' heterochromic uveitis
def: "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." [DOID:9375, http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis, http://www.uveitissociety.org/pages/diseases/fhu.pdf]
synonym: "Fuch's heterochromic iridocyclitis" EXACT [DOID:9375]
synonym: "Fuchs uveitis syndrome" EXACT [DOID:9375]
synonym: "Fuchs' heterochromic cyclitis" EXACT [DOID:9375, ICD9CM_2006:364.21]
xref: DOID:9375 {source="MONDO:equivalentTo"}
xref: ICD10:H20.81 {source="DOID:9375"}
xref: ICD9:364.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:9375"}
xref: SCTID:11226001 {source="MONDO:equivalentTo", source="DOID:9375"}
xref: UMLS:C0016782 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:9375"}
is_a: MONDO:0002254 {source="DOID:9375", source="MONDOLEX:0004771"} ! syndromic disease
property_value: exactMatch DOID:9375
property_value: exactMatch http://identifiers.org/snomedct/11226001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016782

[Term]
id: MONDO:0004772
name: glaucomatocyclitic crisis
synonym: "Posner-Schlossman syndrome" EXACT [DOID:9378]
synonym: "Terrien-Viel syndrome" EXACT [DOID:9378]
xref: DOID:9378 {source="MONDO:equivalentTo"}
xref: ICD9:364.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:9378"}
xref: SCTID:29538005 {source="MONDO:equivalentTo", source="DOID:9378", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0152138 {source="MONDO:equivalentTo", source="DOID:9378"}
is_a: MONDO:0004773 {source="DOID:9378", source="linkedlifedata"} ! iridocyclitis (disease)
property_value: exactMatch DOID:9378
property_value: exactMatch http://identifiers.org/snomedct/29538005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152138

[Term]
id: MONDO:0004773
name: iridocyclitis (disease)
def: "An inflammation of the iris and the ciliary body" [https://en.wikipedia.org/wiki/Uveitis#Classification, MONDO:cjm]
synonym: "iridocyclitis" EXACT [MONDO:ambiguous]
synonym: "primary iridocyclitis" NARROW [DOID:9383]
xref: DOID:9383 {source="MONDO:equivalentTo"}
xref: HP:0001094 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H20.01 {source="DOID:9383"}
xref: ICD9:364.01 {source="DOID:9383"}
xref: ICD9:364.2 {source="DOID:9383"}
xref: ICD9:364.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34736 {source="MONDO:kboom-pr-0.96/0.68/2.71", source="MONDO:equivalentTo"}
xref: SCTID:77971008 {source="MONDO:equivalentTo"}
xref: UMLS:C0022073 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34736"}
is_a: MONDO:0002970 ! ciliary body disease
is_a: MONDO:0006651 {source="DOID:9383", source="MONDOLEX:0004773", source="NCIT:C34736", source="linkedlifedata", source="linkedlifedata/inferred"} ! anterior uveitis (disease)
is_a: MONDO:0006814 {source="MONDO:Redundant", source="linkedlifedata"} ! iritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/12630008
property_value: closeMatch http://identifiers.org/snomedct/193485000
property_value: closeMatch http://identifiers.org/snomedct/193496008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007832
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154909
property_value: exactMatch DOID:9383
property_value: exactMatch http://identifiers.org/snomedct/77971008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022073
property_value: exactMatch NCIT:C34736

[Term]
id: MONDO:0004774
name: gonococcal iridocyclitis
def: "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused iridocyclitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae iridocyclitis (disease)" EXACT []
xref: DOID:9384 {source="MONDO:equivalentTo"}
xref: ICD10:A54.32 {source="MONDO:equivalentTo", source="DOID:9384"}
xref: ICD9:098.41 {source="DOID:9384"}
xref: SCTID:9091006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9384"}
xref: UMLS:C0153212 {source="MONDO:equivalentTo", source="DOID:9384"}
is_a: MONDO:0004853 ! gonococcal endophthalmia
is_a: MONDO:0017210 ! infectious anterior uveitis
property_value: closeMatch http://identifiers.org/snomedct/186922002
property_value: exactMatch DOID:9384
property_value: exactMatch http://identifiers.org/snomedct/9091006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153212

[Term]
id: MONDO:0004775
name: lens-induced iridocyclitis
synonym: "lens-induced iridocyclitis" EXACT [DOID:9388]
xref: COHD:438751 {source="MONDO:equivalentTo"}
xref: DOID:9388 {source="MONDO:equivalentTo"}
xref: ICD10:H20.2 {source="DOID:9388"}
xref: ICD9:364.23 {source="MONDO:equivalentTo", source="i2s", source="DOID:9388"}
xref: SCTID:70461003 {source="MONDO:equivalentTo", source="DOID:9388", source="MONDO:kboom-pr-0.95/0.83/1.21"}
xref: UMLS:C0339320 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9388"}
is_a: MONDO:0004773 {source="DOID:9388", source="MONDOLEX:0004775", source="linkedlifedata"} ! iridocyclitis (disease)
property_value: exactMatch DOID:9388
property_value: exactMatch http://identifiers.org/snomedct/70461003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339320

[Term]
id: MONDO:0004776
name: obsolete infectious anterior uveitis
is_obsolete: true
replaced_by: MONDO:0017210

[Term]
id: MONDO:0004777
name: acute laryngitis
def: "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378]
synonym: "laryngitis" EXACT [NCIT:C26688]
synonym: "laryngitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:30133 {source="MONDO:equivalentTo"}
xref: DOID:9396 {source="MONDO:equivalentTo"}
xref: ICD10:J04.0 {source="MONDO:equivalentTo", source="DOID:9396"}
xref: ICD9:464.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9396"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:464.01 {source="DOID:9396"}
xref: NCIT:C26688 {source="MONDO:equivalentTo", source="DOID:9396", source="MONDO:kboom-pr-0.96/0.71/2.55"}
xref: SCTID:6655004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9396"}
xref: UMLS:C0001327 {source="MONDO:equivalentTo", source="NCIT:C26688", source="DOID:9396"}
is_a: MONDO:0002647 {source="DOID:9396", source="MONDO:Redundant", source="NCIT:C26688", source="linkedlifedata"} ! laryngitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155506009
property_value: closeMatch http://identifiers.org/snomedct/195690008
property_value: closeMatch http://identifiers.org/snomedct/408669002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949123
property_value: exactMatch DOID:9396
property_value: exactMatch http://identifiers.org/snomedct/6655004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001327
property_value: exactMatch NCIT:C26688

[Term]
id: MONDO:0004778
name: epididymo-orchitis
def: "A disorder involving inflammation of the epididymis and testes." [https://www.merckmanuals.com/home/men-s-health-issues/penile-and-testicular-disorders/epididymitis-and-epididymo-orchitis, MONDO:cjm]
xref: DOID:9401 {source="MONDO:equivalentTo"}
xref: ICD10:N45 {source="DOID:9401"}
xref: ICD10:N45.3 {source="MONDO:equivalentTo", source="DOID:9401"}
xref: ICD9:604 {source="DOID:9401"}
xref: ICD9:604.90 {source="MONDO:equivalentTo", source="i2s", source="DOID:9401"}
xref: SCTID:197983000 {source="MONDO:equivalentTo", source="DOID:9401", source="MONDO:kboom-pr-1.00/0.80/10.09"}
xref: UMLS:C0149881 {source="MONDO:equivalentTo", source="DOID:9401"}
is_a: MONDO:0004779 {source="DOID:9401", source="MONDO:Redundant", source="linkedlifedata"} ! epididymitis (disease)
is_a: MONDO:0006882 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! orchitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155913003
property_value: closeMatch http://identifiers.org/snomedct/155915005
property_value: closeMatch http://identifiers.org/snomedct/155917002
property_value: closeMatch http://identifiers.org/snomedct/198001001
property_value: closeMatch http://identifiers.org/snomedct/198003003
property_value: closeMatch http://identifiers.org/snomedct/198004009
property_value: closeMatch http://identifiers.org/snomedct/24084007
property_value: exactMatch DOID:9401
property_value: exactMatch http://identifiers.org/snomedct/197983000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149881

[Term]
id: MONDO:0004779
name: epididymitis (disease)
def: "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." [MESH:D004823]
synonym: "epididymal" EXACT [NCIT:C12328]
synonym: "epididymis" EXACT [NCIT:C12328]
synonym: "epididymitis" EXACT [MONDO:ambiguous]
xref: DOID:9402 {source="MONDO:equivalentTo"}
xref: HP:0000031 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N45.1 {source="DOID:9402", source="MONDO:equivalentTo"}
xref: MESH:D004823 {source="DOID:9402", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C12328 {source="MONDO:equivalentTo"}
xref: SCTID:31070006 {source="DOID:9402", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014534 {source="DOID:9402", source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="DOID:9402", source="ICD10:N45.1/inferred", source="MESH:D004823", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! male reproductive system disease
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155914009
property_value: closeMatch http://identifiers.org/snomedct/197993007
property_value: closeMatch http://identifiers.org/snomedct/197998003
property_value: exactMatch DOID:9402
property_value: exactMatch http://identifiers.org/mesh/D004823
property_value: exactMatch http://identifiers.org/snomedct/31070006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014534
property_value: exactMatch NCIT:C12328

[Term]
id: MONDO:0004780
name: strictly posterior acute myocardial infarction
xref: DOID:9407 {source="MONDO:equivalentTo"}
xref: ICD9:410.60 {source="DOID:9407"}
is_a: MONDO:0004781 {source="DOID:9407", source="MONDOLEX:0004780"} ! acute myocardial infarction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155652
property_value: exactMatch DOID:9407

[Term]
id: MONDO:0004781
name: acute myocardial infarction
def: "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." [NCIT:P378]
synonym: "acute myocardial infarction (disease)" EXACT []
synonym: "myocardial infarction (disease), acute" EXACT [MONDO:patterns/acute]
xref: COHD:312327 {source="MONDO:equivalentTo"}
xref: DOID:9408 {source="MONDO:equivalentTo"}
xref: EFO:0008583 {source="MONDO:equivalentTo"}
xref: ICD10:I21.3 {source="DOID:9408"}
xref: ICD10:I21.9 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo"}
xref: ICD9:410 {source="DOID:9408"}
xref: ICD9:410.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.82 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.9 {source="DOID:9408"}
xref: ICD9:410.90 {source="MONDO:equivalentTo", source="DOID:9408", source="i2s"}
xref: ICD9:410.91 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:410.92 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35204 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9408"}
xref: SCTID:57054005 {source="MONDO:equivalentTo", source="DOID:9408", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155626 {source="MONDO:equivalentTo", source="DOID:9408", source="NCIT:C35204"}
is_a: MONDO:0005068 {source="DOID:9408", source="EFO:0008583", source="ICD10:I21.9", source="MONDO:Redundant", source="NCIT:C35204", source="linkedlifedata"} ! myocardial infarction (disease)
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155304006
property_value: closeMatch http://identifiers.org/snomedct/194796000
property_value: closeMatch http://identifiers.org/snomedct/194811003
property_value: closeMatch http://identifiers.org/snomedct/266288001
property_value: exactMatch DOID:9408
property_value: exactMatch http://identifiers.org/snomedct/57054005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155626
property_value: exactMatch NCIT:C35204

[Term]
id: MONDO:0004782
name: diabetes insipidus
def: "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." [NCIT:C43263]
xref: COHD:30968 {source="MONDO:equivalentTo"}
xref: DOID:9409 {source="MONDO:equivalentTo"}
xref: GARD:0011934 {source="MONDO:equivalentTo"}
xref: ICD10:E23.2 {source="DOID:9409", source="MONDO:equivalentTo"}
xref: ICD9:253.5 {source="DOID:9409", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003919 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C43263 {source="DOID:9409", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:15771004 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.85/1.62"}
xref: UMLS:C0011848 {source="DOID:9409", source="MONDO:equivalentTo", source="NCIT:C43263"}
is_a: MONDO:0005240 {source="DOID:9409", source="MESH:D003919"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/190484000
property_value: exactMatch DOID:9409
property_value: exactMatch http://identifiers.org/mesh/D003919
property_value: exactMatch http://identifiers.org/snomedct/15771004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011848
property_value: exactMatch NCIT:C43263

[Term]
id: MONDO:0004783
name: obsolete panhypopituitarism
is_obsolete: true
replaced_by: MONDO:0019591

[Term]
id: MONDO:0004784
name: allergic asthma
def: "A asthma with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of asthma" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "atopic asthma" RELATED [DOID:9415]
synonym: "extrinsic asthma with acute exacerbation" EXACT [DOID:9415]
synonym: "extrinsic asthma with status asthmaticus" EXACT [DOID:9415]
xref: DOID:9415 {source="MONDO:equivalentTo"}
xref: ICD10:J45 {source="MONDO:subClassOf", source="DOID:9415"}
xref: ICD9:493.0 {source="DOID:9415"}
xref: SCTID:389145006 {source="DOID:9415", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.55"}
xref: UMLS:C0155877 {source="DOID:9415", source="MONDO:equivalentTo"}
is_a: MONDO:0000771 ! allergic respiratory disease
is_a: MONDO:0004979 {source="DOID:9415", source="MONDO:Entailed", source="MONDO:Redundant"} ! asthma
property_value: closeMatch http://identifiers.org/snomedct/155575009
property_value: closeMatch http://identifiers.org/snomedct/16862005
property_value: closeMatch http://identifiers.org/snomedct/195968006
property_value: closeMatch http://identifiers.org/snomedct/195972005
property_value: closeMatch http://identifiers.org/snomedct/233680000
property_value: closeMatch http://identifiers.org/snomedct/266358007
property_value: closeMatch http://identifiers.org/snomedct/266396008
property_value: closeMatch http://identifiers.org/snomedct/389146007
property_value: exactMatch DOID:9415
property_value: exactMatch http://identifiers.org/snomedct/389145006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155877

[Term]
id: MONDO:0004785
name: blepharitis
def: "Inflammation of the eyelids near the eyelashes." [NCIT:P378]
synonym: "eyelid inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of eyelid" EXACT []
xref: COHD:378425 {source="MONDO:equivalentTo"}
xref: DOID:9423 {source="MONDO:equivalentTo"}
xref: ICD10:H01.0 {source="MONDO:equivalentTo", source="DOID:9423"}
xref: ICD10:H01.00 {source="DOID:9423"}
xref: ICD10:H01.9 {source="DOID:9423"}
xref: ICD9:373.0 {source="DOID:9423"}
xref: ICD9:373.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:9423"}
xref: ICD9:373.4 {source="DOID:9423"}
xref: ICD9:373.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:373.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:9423"}
xref: MESH:D001762 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9423"}
xref: NCIT:C112183 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9423"}
xref: SCTID:41446000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9423"}
xref: UMLS:C0005741 {source="NCIT:C112183", source="MONDO:equivalentTo", source="DOID:9423"}
is_a: MONDO:0003382 {source="DOID:9423", source="MESH:D001762", source="MONDO:Redundant", source="linkedlifedata"} ! eyelid disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155170007
property_value: closeMatch http://identifiers.org/snomedct/155171006
property_value: closeMatch http://identifiers.org/snomedct/155175002
property_value: closeMatch http://identifiers.org/snomedct/193907001
property_value: closeMatch http://identifiers.org/snomedct/193908006
property_value: closeMatch http://identifiers.org/snomedct/193909003
property_value: closeMatch http://identifiers.org/snomedct/193910008
property_value: closeMatch http://identifiers.org/snomedct/193920003
property_value: closeMatch http://identifiers.org/snomedct/193925008
property_value: closeMatch http://identifiers.org/snomedct/396712002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155181
property_value: exactMatch DOID:9423
property_value: exactMatch http://identifiers.org/mesh/D001762
property_value: exactMatch http://identifiers.org/snomedct/41446000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005741
property_value: exactMatch NCIT:C112183

[Term]
id: MONDO:0004786
name: chronic cholangitis
def: "Cholangitis that is persistent and long-standing." [NCIT:P378]
synonym: "cholangitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:9439 {source="MONDO:equivalentTo"}
xref: NCIT:C35335 {source="DOID:9439", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:71912000 {source="DOID:9439", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267918 {source="DOID:9439", source="MONDO:equivalentTo", source="NCIT:C35335"}
is_a: MONDO:0004789 {source="DOID:9439", source="MONDO:Redundant", source="NCIT:C35335", source="linkedlifedata"} ! cholangitis
property_value: exactMatch DOID:9439
property_value: exactMatch http://identifiers.org/snomedct/71912000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267918
property_value: exactMatch NCIT:C35335

[Term]
id: MONDO:0004787
name: cervical mullerian papilloma
def: "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." [NCIT:C40215]
synonym: "cervical Muellerian papilloma" EXACT [DOID:9442]
synonym: "cervical Mullerian papilloma" EXACT [NCIT:C40215]
synonym: "cervical Müllerian papilloma" EXACT [NCIT:C40215]
xref: DOID:9442 {source="MONDO:equivalentTo"}
xref: NCIT:C40215 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:9442"}
xref: UMLS:C1516427 {source="NCIT:C40215", source="MONDO:equivalentTo", source="DOID:9442"}
is_a: MONDO:0000644 {source="DOID:9442", source="NCIT:C40215"} ! cervical benign neoplasm
is_a: MONDO:0002363 {source="NCIT:C40215"} ! papilloma
property_value: exactMatch DOID:9442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516427
property_value: exactMatch NCIT:C40215

[Term]
id: MONDO:0004788
name: cervix squamous papilloma
def: "A papilloma that arises from the squamous epithelium of the cervix." [NCIT:C6342]
synonym: "cervical squamous papilloma" EXACT [NCIT:C6342]
synonym: "cervix squamous papilloma" EXACT [NCIT:C6342]
synonym: "cervix uteri squamous papilloma" EXACT [NCIT:C6342]
synonym: "squamous papilloma of cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of cervix uteri" EXACT [NCIT:C6342]
synonym: "squamous papilloma of the cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of the cervix uteri" EXACT [DOID:9445, NCIT:C6342]
synonym: "squamous papilloma of the uterine cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of uterine cervix" EXACT [NCIT:C6342]
synonym: "uterine cervix squamous papilloma" EXACT [MONDO:patterns/location, NCIT:C6342]
xref: DOID:9445 {source="MONDO:equivalentTo"}
xref: NCIT:C6342 {source="MONDO:equivalentTo", source="DOID:9445", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336900 {source="NCIT:C6342", source="MONDO:equivalentTo", source="DOID:9445"}
is_a: MONDO:0000644 {source="DOID:9445", source="MONDO:Redundant", source="NCIT:C6342"} ! cervical benign neoplasm
is_a: MONDO:0001825 {source="MONDO:Redundant", source="MONDOLEX:0004788", source="NCIT:C6342"} ! squamous papilloma
property_value: exactMatch DOID:9445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336900
property_value: exactMatch NCIT:C6342

[Term]
id: MONDO:0004789
name: cholangitis
def: "An acute or chronic inflammatory process affecting the biliary tract." [NCIT:C26718]
synonym: "biliary tract infection" EXACT [NCIT:C26718]
synonym: "biliary tree inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "cholangitis" EXACT [NCIT:C26718]
synonym: "inflammation of biliary tree" EXACT []
xref: COHD:195856 {source="MONDO:equivalentTo"}
xref: DOID:9446 {source="MONDO:equivalentTo"}
xref: ICD10:K83.0 {source="DOID:9446", source="MONDO:equivalentTo"}
xref: ICD9:576.1 {source="DOID:9446", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002761 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26718 {source="DOID:9446", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:82403002 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0008311 {source="DOID:9446", source="NCIT:C26718", source="MONDO:equivalentTo"}
is_a: MONDO:0006322 {source="NCIT:C26718"} ! non-neoplastic bile duct disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155831003
property_value: closeMatch http://identifiers.org/snomedct/197445007
property_value: exactMatch DOID:9446
property_value: exactMatch http://identifiers.org/mesh/D002761
property_value: exactMatch http://identifiers.org/snomedct/82403002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008311
property_value: exactMatch NCIT:C26718

[Term]
id: MONDO:0004790
name: fatty liver disease
def: "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." [https://en.wikipedia.org/wiki/Fatty_liver]
synonym: "alcoholic fatty liver" EXACT EXCLUDE [DOID:9452]
synonym: "fatty change of liver" EXACT [DOID:9452]
synonym: "fatty liver" EXACT [MONDO:0005317]
synonym: "hepatic lipidosis" EXACT [DOID:9452]
synonym: "steatosis of liver" EXACT [DOID:9452]
xref: DOID:9452 {source="NOTES:classified as inherited in DO", source="MONDO:equivalentTo"}
xref: EFO:0003934 {source="MONDO:equivalentTo"}
xref: ICD10:K70.0 {source="DOID:9452"}
xref: ICD9:571.0 {source="MONDO:superClassOf", source="DOID:9452"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005234 {source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"}
xref: SCTID:197321007 {source="MONDO:kboom-pr-0.89/0.75/0.33", source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"}
xref: SCTID:371330000 {source="MONDO:equivalentTo", source="DOID:9452"}
is_a: MONDO:0005154 {source="MESH:D005234", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! liver disease
property_value: closeMatch http://identifiers.org/snomedct/390002007
property_value: closeMatch http://identifiers.org/snomedct/442191002
property_value: closeMatch http://identifiers.org/snomedct/5360002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015695
property_value: exactMatch DOID:9452
property_value: exactMatch http://identifiers.org/mesh/D005234
property_value: exactMatch http://identifiers.org/snomedct/197321007
property_value: exactMatch http://identifiers.org/snomedct/371330000

[Term]
id: MONDO:0004791
name: obsolete lipid storage disease
is_obsolete: true
replaced_by: MONDO:0019245

[Term]
id: MONDO:0004792
name: cancer of isthmus of fallopian tube
def: "A cancer that involves the UBERON:0016632." [MONDO:patterns/location]
synonym: "cancer of isthmus of fallopian tube" EXACT [MONDO:patterns/cancer]
synonym: "isthmus of fallopian tube cancer" EXACT []
synonym: "malignant isthmus of fallopian tube neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of isthmus of fallopian tube" EXACT [MONDO:patterns/cancer]
xref: DOID:9459 {source="MONDO:equivalentTo"}
xref: ICD9:182.1 {source="DOID:9459"}
is_a: MONDO:0002158 ! fallopian tube cancer
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:9459"} ! uterine corpus cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153575
property_value: exactMatch DOID:9459

[Term]
id: MONDO:0004793
name: obsolete uterine corpus cancer
is_obsolete: true
replaced_by: MONDO:0006003

[Term]
id: MONDO:0004794
name: exposure keratitis
synonym: "exposure keratoconjunctivitis" EXACT [DOID:9461, ICD9CM_2006:370.34]
synonym: "lagophthalmic keratitis" EXACT [DOID:9461]
xref: COHD:379812 {source="MONDO:equivalentTo"}
xref: DOID:9461 {source="MONDO:equivalentTo"}
xref: ICD10:H16.21 {source="DOID:9461"}
xref: ICD9:370.34 {source="MONDO:equivalentTo", source="DOID:9461", source="i2s"}
xref: SCTID:14366000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37", source="DOID:9461"}
xref: UMLS:C0339295 {source="MONDO:equivalentTo", source="DOID:9461"}
is_a: MONDO:0004768 {source="DOID:9461", source="MONDOLEX:0004794", source="linkedlifedata"} ! keratoconjunctivitis
property_value: exactMatch DOID:9461
property_value: exactMatch http://identifiers.org/snomedct/14366000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339295

[Term]
id: MONDO:0004795
name: otitis externa
def: "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." [NCIT:C3299]
synonym: "external Ear infection" EXACT [NCIT:C3299]
synonym: "infectious otitis externa" EXACT [NCIT:C3299]
synonym: "otitis externa" EXACT [NCIT:C3299]
synonym: "outer Ear infection" EXACT [NCIT:C3299]
synonym: "swimmer's Ear" EXACT [NCIT:C3299]
synonym: "swimmer's ear" EXACT [DOID:9463]
xref: COHD:380731 {source="MONDO:equivalentTo"}
xref: DOID:9463 {source="MONDO:equivalentTo"}
xref: ICD10:H60 {source="MONDO:equivalentTo"}
xref: ICD9:380.1 {source="DOID:9463"}
xref: ICD9:380.10 {source="DOID:9463"}
xref: MESH:D010032 {source="MONDO:equivalentTo", source="DOID:9463", source="MONDO:ontobio"}
xref: NCIT:C3299 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07", source="DOID:9463"}
xref: SCTID:3135009 {source="MONDO:equivalentTo", source="DOID:9463", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002776 {source="DOID:9463", source="ICD10:H60", source="MONDO:Redundant", source="NCIT:C3299/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! external ear disease
is_a: MONDO:0021666 {source="MESH:D010032", source="MONDO:Entailed", source="NCIT:C3299"} ! ear infection
is_a: MONDO:0021669 ! post-infectious disorder
property_value: closeMatch http://identifiers.org/snomedct/194198006
property_value: closeMatch http://identifiers.org/snomedct/194199003
property_value: closeMatch http://identifiers.org/snomedct/194214000
property_value: closeMatch http://identifiers.org/snomedct/267752002
property_value: closeMatch http://identifiers.org/snomedct/86981007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021355
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740437
property_value: exactMatch DOID:9463
property_value: exactMatch http://identifiers.org/mesh/D010032
property_value: exactMatch http://identifiers.org/snomedct/3135009
property_value: exactMatch NCIT:C3299

[Term]
id: MONDO:0004796
name: infectious meningitis
def: "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." [NCIT:C79598]
synonym: "infectious meningitis" EXACT [NCIT:C79598]
synonym: "infective meningitis" EXACT [NCIT:C79598]
synonym: "meningitis" RELATED [DOID:9471]
xref: DOID:9471 {source="MONDO:subClassOf", source="EFO:0000584", source="MONDO:equivalentTo"}
xref: EFO:0000584 {source="MONDO:equivalentTo"}
xref: HP:0001287 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G03 {source="DOID:9471"}
xref: ICD10:G03.9 {source="DOID:9471"}
xref: ICD9:321.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:322 {source="EFO:0000584", source="DOID:9471"}
xref: ICD9:322.9 {source="MONDO:subClassOf", source="EFO:0000584", source="DOID:9471"}
xref: MESH:D008581 {source="EFO:0000584", source="MONDO:equivalentTo", source="DOID:9471", source="MONDO:ontobio"}
xref: NCIT:C79598 {source="EFO:0000584", source="MONDO:equivalentTo"}
xref: SCTID:312216007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C79598", source="linkedlifedata"} ! meningitis (disease)
is_a: MONDO:0024619 ! central nervous system infectious disorder
disjoint_from: MONDO:0024891 ! non-infectious meningitis
property_value: closeMatch http://identifiers.org/snomedct/154983000
property_value: closeMatch http://identifiers.org/snomedct/192678004
property_value: closeMatch http://identifiers.org/snomedct/192681009
property_value: closeMatch http://identifiers.org/snomedct/25822001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025289
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0729584
property_value: exactMatch DOID:9471
property_value: exactMatch http://identifiers.org/mesh/D008581
property_value: exactMatch http://identifiers.org/snomedct/312216007
property_value: exactMatch NCIT:C79598

[Term]
id: MONDO:0004797
name: mononeuritis of lower limb
def: "A mononeuritis simplex that involves the hindlimb." [MONDO:patterns/location]
synonym: "hindlimb mononeuritis simplex" EXACT [MONDO:patterns/location]
synonym: "mononeuritis simplex of hindlimb" EXACT [MONDO:design_pattern]
xref: DOID:9473 {source="MONDO:equivalentTo"}
xref: ICD9:355 {source="DOID:9473"}
xref: ICD9:355.8 {source="DOID:9473"}
is_a: MONDO:0002121 {source="DOID:9473", source="MONDO:Redundant", source="MONDOLEX:0004797"} ! mononeuritis simplex
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/155075000
property_value: closeMatch http://identifiers.org/snomedct/193154003
property_value: closeMatch http://identifiers.org/snomedct/62235007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154747
property_value: exactMatch DOID:9473

[Term]
id: MONDO:0004798
name: obsolete Sheehan syndrome
is_obsolete: true
replaced_by: MONDO:0019618

[Term]
id: MONDO:0004799
name: ulcerative blepharitis
xref: COHD:441558 {source="MONDO:equivalentTo"}
xref: DOID:9483 {source="MONDO:equivalentTo"}
xref: ICD10:H01.01 {source="DOID:9483"}
xref: ICD9:373.01 {source="MONDO:equivalentTo", source="DOID:9483", source="i2s"}
xref: SCTID:91662004 {source="MONDO:equivalentTo", source="DOID:9483", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155173 {source="MONDO:equivalentTo", source="DOID:9483"}
is_a: MONDO:0004785 {source="DOID:9483", source="linkedlifedata"} ! blepharitis
property_value: exactMatch DOID:9483
property_value: exactMatch http://identifiers.org/snomedct/91662004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155173

[Term]
id: MONDO:0004800
name: chronic dacryoadenitis
def: "Chronic form of dacryoadenitis." [MONDO:patterns/chronic]
synonym: "dacryoadenitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:376416 {source="MONDO:equivalentTo"}
xref: DOID:949 {source="MONDO:equivalentTo"}
xref: ICD10:H04.02 {source="DOID:949"}
xref: ICD9:375.02 {source="MONDO:equivalentTo", source="DOID:949", source="i2s"}
xref: SCTID:4760008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:949"}
xref: UMLS:C0155224 {source="MONDO:equivalentTo", source="DOID:949"}
is_a: MONDO:0004804 {source="DOID:949", source="MONDO:Redundant", source="linkedlifedata"} ! dacryoadenitis
property_value: exactMatch DOID:949
property_value: exactMatch http://identifiers.org/snomedct/4760008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155224

[Term]
id: MONDO:0004801
name: unilateral hypoactive labyrinth
xref: DOID:9496 {source="MONDO:equivalentTo"}
xref: ICD9:386.53 {source="DOID:9496"}
xref: UMLS:C0155517 {source="MONDO:equivalentTo", source="DOID:9496"}
is_a: MONDO:0003571 {source="DOID:9496"} ! labyrinthine dysfunction
property_value: closeMatch http://identifiers.org/snomedct/194374008
property_value: closeMatch http://identifiers.org/snomedct/81585005
property_value: exactMatch DOID:9496
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155517

[Term]
id: MONDO:0004802
name: pulmonary eosinophilia
def: "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents." [MESH:D011657]
xref: DOID:9498 {source="MONDO:equivalentTo"}
xref: ICD9:518.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:9498"}
xref: MESH:D011657 {source="MONDO:equivalentTo", source="DOID:9498"}
xref: SCTID:367542003 {source="MONDO:equivalentTo", source="DOID:9498", source="MONDO:kboom-pr-0.74/0.45/0.15"}
xref: UMLS:C0034068 {source="MONDO:equivalentTo", source="DOID:9498"}
is_a: MONDO:0015691 {source="DOID:9498", source="MESH:D011657", source="MONDOLEX:0004802", source="linkedlifedata"} ! hypereosinophilic syndrome
property_value: closeMatch http://identifiers.org/snomedct/155623005
property_value: closeMatch http://identifiers.org/snomedct/196145005
property_value: closeMatch http://identifiers.org/snomedct/196147002
property_value: closeMatch http://identifiers.org/snomedct/91053000
property_value: exactMatch DOID:9498
property_value: exactMatch http://identifiers.org/mesh/D011657
property_value: exactMatch http://identifiers.org/snomedct/367542003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034068

[Term]
id: MONDO:0004803
name: disseminated eosinophilic collagen disease
xref: DOID:9499 {source="MONDO:equivalentTo"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:423486005 {source="MONDO:equivalentTo", source="DOID:9499", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0263662 {source="MONDO:equivalentTo", source="DOID:9499"}
is_a: MONDO:0004603 {source="DOID:9499"} ! collagenopathy
is_a: MONDO:0015691 {source="DOID:9499", source="linkedlifedata"} ! hypereosinophilic syndrome
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch http://identifiers.org/snomedct/26328002
property_value: exactMatch DOID:9499
property_value: exactMatch http://identifiers.org/snomedct/423486005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263662

[Term]
id: MONDO:0004804
name: dacryoadenitis
def: "Inflammation and enlargement of the lacrimal gland." [NCIT:P378]
synonym: "inflammation of lacrimal gland" EXACT []
synonym: "lacrimal gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:381858 {source="MONDO:equivalentTo"}
xref: DOID:950 {source="MONDO:equivalentTo"}
xref: ICD10:H04.0 {source="DOID:950"}
xref: ICD10:H04.00 {source="DOID:950"}
xref: ICD9:375.0 {source="DOID:950"}
xref: ICD9:375.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:950"}
xref: NCIT:C26971 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:950"}
xref: SCTID:86927009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.76", source="DOID:950"}
xref: UMLS:C0155223 {source="NCIT:C26971", source="MONDO:equivalentTo", source="DOID:950"}
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0024625 ! disorder of lacrimal gland
property_value: closeMatch http://identifiers.org/snomedct/193971001
property_value: closeMatch http://identifiers.org/snomedct/193973003
property_value: exactMatch DOID:950
property_value: exactMatch http://identifiers.org/snomedct/86927009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155223
property_value: exactMatch NCIT:C26971

[Term]
id: MONDO:0004805
name: leukocyte disease
def: "A disease involving leukocytes." [MONDO:DesignPattern]
synonym: "disease of leukocyte" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of leukocyte" EXACT []
synonym: "disorder of leukocyte" EXACT [MONDO:patterns/location_top]
synonym: "disorder of leukocyte" RELATED [MONDO:patterns/location_top]
synonym: "disorder, leukocyte" EXACT [MESH:D007960]
synonym: "disorders, leukocyte" EXACT [MESH:D007960]
synonym: "leukocyte disease" EXACT [MONDO:patterns/location]
synonym: "leukocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leukocyte disorder" EXACT [MESH:D007960]
synonym: "white blood cell disorder" EXACT []
xref: DOID:9500 {source="MONDO:equivalentTo"}
xref: ICD10:D72.9 {source="DOID:9500"}
xref: ICD9:288 {source="DOID:9500"}
xref: ICD9:288.9 {source="DOID:9500"}
xref: MESH:D007960 {source="MONDO:equivalentTo", source="DOID:9500"}
xref: SCTID:54097007 {source="MONDO:equivalentTo", source="DOID:9500"}
xref: UMLS:C0023510 {source="MONDO:equivalentTo", source="DOID:9500"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0005570 {source="DOID:9500", source="MESH:D007960", source="linkedlifedata"} ! hematologic disease
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: closeMatch http://identifiers.org/snomedct/154829002
property_value: closeMatch http://identifiers.org/snomedct/191369001
property_value: exactMatch DOID:9500
property_value: exactMatch http://identifiers.org/mesh/D007960
property_value: exactMatch http://identifiers.org/snomedct/54097007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023510

[Term]
id: MONDO:0004806
name: chronic eosinophilic pneumonia
def: "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement." [NCIT:P378]
synonym: "cryptogenic pulmonary eosinophilia" EXACT [DOID:9502]
synonym: "eosinophilic pneumonia, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:9502 {source="MONDO:equivalentTo"}
xref: NCIT:C34471 {source="DOID:9502", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: SCTID:233692000 {source="DOID:9502", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
is_a: MONDO:0005749 {source="DOID:9502", source="MONDO:Redundant", source="MONDOLEX:0004806", source="NCIT:C34471"} ! eosinophilic pneumonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008680
property_value: exactMatch DOID:9502
property_value: exactMatch http://identifiers.org/snomedct/233692000
property_value: exactMatch NCIT:C34471

[Term]
id: MONDO:0004807
name: obsolete Loeffler syndrome
is_obsolete: true
replaced_by: MONDO:0019122

[Term]
id: MONDO:0004808
name: benign mammary dysplasia
comment: Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia
synonym: "benign dysplasia of breast" RELATED []
synonym: "benign mammary dysplasia" EXACT []
xref: COHD:78200 {source="MONDO:equivalentTo"}
xref: DOID:9504 {source="MONDO:equivalentTo"}
xref: ICD9:610.8 {source="DOID:9504", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:610.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:57993004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0002657 {source="DOID:9504/inferred", source="linkedlifedata"} ! breast disease
relationship: excluded_subClassOf MONDO:0000620 {source="DOID:9504"} ! breast benign neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156319
property_value: exactMatch DOID:9504
property_value: exactMatch http://identifiers.org/snomedct/57993004

[Term]
id: MONDO:0004809
name: obsolete cannabis abuse
is_obsolete: true
replaced_by: MONDO:0005689

[Term]
id: MONDO:0004810
name: acute ethmoiditis
def: "Acute form of ethmoid sinusitis." [MONDO:patterns/acute]
synonym: "acute ethmoid sinusitis" EXACT [DOID:9506]
synonym: "acute ethmoidal sinusitis" EXACT [DOID:9506, ICD9CM_2006:461.2]
synonym: "ethmoid sinusitis, acute" EXACT [MONDO:patterns/acute]
synonym: "ethmoidal sinus - acute" EXACT [DOID:9506]
xref: COHD:141056 {source="MONDO:equivalentTo"}
xref: DOID:9506 {source="MONDO:equivalentTo"}
xref: ICD10:J01.2 {source="DOID:9506"}
xref: ICD10:J01.20 {source="DOID:9506"}
xref: ICD9:461.2 {source="DOID:9506", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:67832005 {source="DOID:9506", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155806 {source="DOID:9506", source="MONDO:equivalentTo"}
is_a: MONDO:0005756 {source="DOID:9506", source="MONDO:Redundant", source="MONDOLEX:0004810", source="linkedlifedata"} ! ethmoid sinusitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155501004
property_value: closeMatch http://identifiers.org/snomedct/266378004
property_value: exactMatch DOID:9506
property_value: exactMatch http://identifiers.org/snomedct/67832005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155806

[Term]
id: MONDO:0004811
name: simple chronic conjunctivitis
xref: COHD:379816 {source="MONDO:equivalentTo"}
xref: DOID:9512 {source="MONDO:equivalentTo"}
xref: ICD10:H10.42 {source="DOID:9512"}
xref: ICD9:372.11 {source="DOID:9512", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:8211008 {source="DOID:9512", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155146 {source="DOID:9512", source="MONDO:equivalentTo"}
is_a: MONDO:0002314 {source="DOID:9512", source="MONDOLEX:0004811", source="linkedlifedata"} ! chronic conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/193866007
property_value: exactMatch DOID:9512
property_value: exactMatch http://identifiers.org/snomedct/8211008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155146

[Term]
id: MONDO:0004812
name: acute dacryoadenitis
def: "Acute form of dacryoadenitis." [MONDO:patterns/acute]
synonym: "dacryoadenitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:372636 {source="MONDO:equivalentTo"}
xref: DOID:952 {source="MONDO:equivalentTo"}
xref: ICD10:H04.01 {source="DOID:952"}
xref: ICD9:375.01 {source="DOID:952", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:2589008 {source="DOID:952", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0149505 {source="DOID:952", source="MONDO:equivalentTo"}
is_a: MONDO:0004804 {source="DOID:952", source="MONDO:Redundant", source="linkedlifedata"} ! dacryoadenitis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch DOID:952
property_value: exactMatch http://identifiers.org/snomedct/2589008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149505

[Term]
id: MONDO:0004813
name: tuberculous pneumothorax
def: "A pneumothorax in which air enters into the pleural cavity." [DOID:9534, http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false]
xref: COHD:252235 {source="MONDO:equivalentTo"}
xref: DOID:9534 {source="MONDO:equivalentTo"}
xref: ICD10:A15.0 {source="DOID:9534"}
xref: ICD9:011.7 {source="DOID:9534"}
xref: ICD9:011.70 {source="DOID:9534", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:011.71 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.72 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.73 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.76 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:29731002 {source="DOID:9534", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152600 {source="DOID:9534", source="MONDO:equivalentTo"}
is_a: MONDO:0002076 {source="DOID:9534", source="linkedlifedata"} ! pneumothorax (disease)
property_value: exactMatch DOID:9534
property_value: exactMatch http://identifiers.org/snomedct/29731002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152600

[Term]
id: MONDO:0004814
name: obsolete vascular skin disease
is_obsolete: true
replaced_by: MONDO:0019293

[Term]
id: MONDO:0004815
name: osteosclerotic plasma cell myeloma
def: "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes." [NCIT:C7765]
synonym: "osteosclerotic multiple myeloma" EXACT [NCIT:C7765]
synonym: "osteosclerotic myeloma" RELATED [DOID:9541]
synonym: "osteosclerotic plasma cell myeloma" EXACT [NCIT:C7765]
xref: DOID:9541 {source="MONDO:equivalentTo"}
xref: NCIT:C7765 {source="MONDO:equivalentTo"}
xref: SCTID:425657001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.82/0.72", source="DOID:9541"}
is_a: MONDO:0009693 {source="DOID:9541", source="MONDOLEX:0004815", source="NCIT:C7765"} ! plasma cell myeloma
property_value: closeMatch http://identifiers.org/snomedct/42215000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3898068
property_value: exactMatch DOID:9541
property_value: exactMatch http://identifiers.org/snomedct/425657001
property_value: exactMatch NCIT:C7765

[Term]
id: MONDO:0004816
name: refractory plasma cell neoplasm
def: "A plasma cell neoplasm that is resistant to treatment." [NCIT:C7813]
synonym: "refractory plasma cell neoplasm" EXACT [NCIT:C7813]
xref: DOID:9544 {source="MONDO:equivalentTo"}
xref: NCIT:C7813 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:9544"}
xref: UMLS:C0278620 {source="MONDO:equivalentTo", source="NCIT:C7813", source="DOID:9544"}
is_a: MONDO:0004111 {source="DOID:9544", source="MONDO:Redundant", source="NCIT:C7813"} ! refractory hematologic cancer
is_a: MONDO:0004959 {source="MONDO:Redundant", source="NCIT:C7813"} ! plasma cell neoplasm
relationship: excluded_subClassOf MONDO:0009693 {source="DOID:9544"} ! plasma cell myeloma
property_value: closeMatch NCIT:C7024
property_value: exactMatch DOID:9544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278620
property_value: exactMatch NCIT:C7813

[Term]
id: MONDO:0004817
name: non-secretory plasma cell myeloma
def: "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine." [NCIT:C4734]
synonym: "non-functioning myeloma" RELATED []
synonym: "non-secreting myeloma" RELATED []
synonym: "non-secretory multiple myeloma" EXACT [NCIT:C4734]
synonym: "non-secretory myeloma" RELATED [DOID:9547]
synonym: "non-secretory plasma cell myeloma" EXACT [NCIT:C4734]
xref: DOID:9547 {source="MONDO:equivalentTo"}
xref: NCIT:C4734 {source="MONDO:equivalentTo"}
xref: SCTID:277580004 {source="DOID:9547", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0456845 {source="DOID:9547", source="MONDO:equivalentTo"}
xref: UMLS:C3898125 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4734"}
is_a: MONDO:0009693 {source="DOID:9547", source="MONDOLEX:0004817", source="NCIT:C4734"} ! plasma cell myeloma
property_value: exactMatch DOID:9547
property_value: exactMatch http://identifiers.org/snomedct/277580004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898125
property_value: exactMatch NCIT:C4734

[Term]
id: MONDO:0004818
name: obsolete benign neurilemmoma
is_obsolete: true
replaced_by: MONDO:0002546

[Term]
id: MONDO:0004819
name: indolent plasma cell myeloma
synonym: "indolent multiple myeloma" EXACT []
synonym: "indolent myeloma" EXACT [https://github.com/monarch-initiative/mondo/issues/423]
synonym: "indolent plasma cell myeloma" EXACT [NCIT:C7150]
xref: DOID:9550 {source="MONDO:equivalentTo"}
xref: NCIT:C7150 {source="MONDO:equivalentTo"}
xref: SCTID:441313008 {source="MONDO:kboom-pr-0.99/0.73/5.05", source="MONDO:equivalentTo"}
xref: UMLS:C2049069 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005235 {source="linkedlifedata"} ! smoldering plasma cell myeloma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334169
property_value: exactMatch DOID:9550
property_value: exactMatch http://identifiers.org/snomedct/441313008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2049069
property_value: exactMatch NCIT:C7150

[Term]
id: MONDO:0004820
name: peripheral nerve schwannoma
def: "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:P378]
comment: Editor note: consider merging into parent, though NCIT treats as two
synonym: "peripheral nerve schwannoma" EXACT [NCIT:C41430]
xref: DOID:956 {source="MONDO:equivalentTo"}
xref: NCIT:C41430 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"}
xref: UMLS:C1519001 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"}
is_a: MONDO:0002546 {source="DOID:956", source="NCIT:C41430"} ! schwannoma
property_value: exactMatch DOID:956
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519001
property_value: exactMatch NCIT:C41430

[Term]
id: MONDO:0004821
name: nasopharyngeal disease
def: "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." [NCIT:P378]
synonym: "disease of nasopharynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasopharynx" EXACT []
synonym: "disorder of nasopharynx" EXACT [MONDO:patterns/location_top]
synonym: "disorder of nasopharynx" RELATED [MONDO:patterns/location_top]
synonym: "disorder of postnasal space" RELATED []
synonym: "nasopharyngeal disorder" EXACT [NCIT:C35723]
synonym: "nasopharynx disease" EXACT [MONDO:patterns/location]
synonym: "nasopharynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:9561 {source="MONDO:equivalentTo"}
xref: MESH:D009302 {source="MONDO:equivalentTo", source="DOID:9561", source="MONDO:ontobio"}
xref: NCIT:C35723 {source="MONDO:equivalentTo", source="DOID:9561"}
xref: SCTID:123952009 {source="MONDO:equivalentTo", source="DOID:9561"}
xref: UMLS:C0027438 {source="MONDO:equivalentTo", source="DOID:9561"}
is_a: MONDO:0004867 {source="DOID:9561", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0020592 ! disease of pharynx
property_value: exactMatch DOID:9561
property_value: exactMatch http://identifiers.org/mesh/D009302
property_value: exactMatch http://identifiers.org/snomedct/123952009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027438
property_value: exactMatch NCIT:C35723

[Term]
id: MONDO:0004822
name: bronchiectasis
def: "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." [NCIT:P378]
synonym: "Polynesian bronchiectasis" EXACT [DOID:9563]
xref: COHD:256449 {source="MONDO:equivalentTo"}
xref: DOID:9563 {source="MONDO:equivalentTo"}
xref: ICD10:J47 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: ICD10:J47.9 {source="DOID:9563"}
xref: ICD9:494 {source="MONDO:equivalentTo", source="i2s", source="DOID:9563"}
xref: MESH:D001987 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: NCIT:C84475 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:9563"}
xref: OMIMPS:211400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:12295008 {source="MONDO:kboom-pr-0.89/0.77/0.15", source="MONDO:equivalentTo", source="DOID:9563"}
xref: UMLS:C0006267 {source="MONDO:equivalentTo", source="DOID:9563", source="NCIT:C84475"}
is_a: MONDO:0001358 {source="DOID:9563", source="MESH:D001987", source="linkedlifedata"} ! bronchial disease
is_a: MONDO:0005002 {source="NCIT:C84475"} ! chronic obstructive pulmonary disease
property_value: closeMatch http://identifiers.org/snomedct/155580000
property_value: closeMatch http://identifiers.org/snomedct/195986009
property_value: exactMatch DOID:9563
property_value: exactMatch http://identifiers.org/mesh/D001987
property_value: exactMatch http://identifiers.org/snomedct/12295008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006267
property_value: exactMatch NCIT:C84475

[Term]
id: MONDO:0004823
name: obsolete dextrocardia
is_obsolete: true
replaced_by: MONDO:0015661

[Term]
id: MONDO:0004824
name: neonatal candidiasis
def: "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." [NCIT:P378]
synonym: "neonatal Candida infection" EXACT [DOID:9577, ICD9CM_2006:771.7]
synonym: "neonatal candida infection" EXACT [DOID:9577]
synonym: "neonatal Monilia infection" EXACT [DOID:9577]
synonym: "neonatal moniliasis" EXACT [DOID:9577]
xref: COHD:440840 {source="MONDO:equivalentTo"}
xref: DOID:9577 {source="MONDO:equivalentTo"}
xref: ICD10:P37.5 {source="MONDO:equivalentTo", source="DOID:9577"}
xref: ICD9:771.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:9577"}
xref: NCIT:C116810 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9577"}
xref: SCTID:414821002 {source="MONDO:equivalentTo", source="DOID:9577", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0276682 {source="MONDO:equivalentTo", source="NCIT:C116810", source="DOID:9577"}
is_a: MONDO:0002026 {source="DOID:9577", source="NCIT:C116810", source="linkedlifedata"} ! candidiasis
property_value: closeMatch http://identifiers.org/snomedct/157121009
property_value: closeMatch http://identifiers.org/snomedct/206362009
property_value: closeMatch http://identifiers.org/snomedct/3973009
property_value: exactMatch DOID:9577
property_value: exactMatch http://identifiers.org/snomedct/414821002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276682
property_value: exactMatch NCIT:C116810

[Term]
id: MONDO:0004825
name: obsolete encephalitis
is_obsolete: true
replaced_by: MONDO:0019956

[Term]
id: MONDO:0004826
name: urethral calculus
def: "A concretion in the urethra." [NCIT:P378]
synonym: "urethra urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethral Stone" EXACT [DOID:9589, NCIT:C26995]
synonym: "urolithiasis of urethra" EXACT [MONDO:design_pattern]
xref: DOID:9589 {source="MONDO:equivalentTo"}
xref: ICD10:N21.1 {source="DOID:9589"}
xref: ICD9:594.2 {source="DOID:9589", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:20342001 {source="DOID:9589", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05"}
xref: UMLS:C0162301 {source="DOID:9589", source="MONDO:equivalentTo"}
is_a: MONDO:0004184 ! urethral disease
is_a: MONDO:0004828 {source="DOID:9589", source="MONDO:Redundant", source="linkedlifedata"} ! lower urinary tract calculus
property_value: closeMatch http://identifiers.org/snomedct/155880008
property_value: exactMatch DOID:9589
property_value: exactMatch http://identifiers.org/snomedct/20342001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162301
property_value: exactMatch NCIT:C26995

[Term]
id: MONDO:0004827
name: esophagus squamous cell papilloma
def: "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare." [NCIT:P378]
synonym: "esophageal squamous papilloma" EXACT [NCIT:C5344]
synonym: "esophagus squamous cell papilloma" EXACT [NCIT:C5344]
synonym: "esophagus squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "squamous cell papilloma of esophagus" EXACT [NCIT:C5344]
synonym: "squamous cell papilloma of the esophagus" EXACT [NCIT:C5344]
xref: DOID:959 {source="MONDO:equivalentTo"}
xref: NCIT:C5344 {source="MONDO:equivalentTo", source="DOID:959", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333467 {source="MONDO:equivalentTo", source="NCIT:C5344", source="DOID:959"}
is_a: MONDO:0001825 {source="DOID:959", source="MONDO:Redundant", source="MONDOLEX:0004827", source="NCIT:C5344"} ! squamous papilloma
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C5344/inferred"} ! benign neoplasm of esophagus
property_value: exactMatch DOID:959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333467
property_value: exactMatch NCIT:C5344

[Term]
id: MONDO:0004828
name: lower urinary tract calculus
def: "A urolithiasis that involves the lower urinary tract." [MONDO:design_pattern]
synonym: "lower urinary tract urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urolithiasis of lower urinary tract" EXACT [MONDO:design_pattern]
xref: COHD:197028 {source="MONDO:equivalentTo"}
xref: DOID:9590 {source="MONDO:equivalentTo"}
xref: ICD10:N21 {source="DOID:9590", source="MONDO:directSiblingOf"}
xref: ICD10:N21.9 {source="MONDO:equivalentTo", source="DOID:9590"}
xref: ICD9:594 {source="DOID:9590"}
xref: ICD9:594.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:594.9 {source="MONDO:equivalentTo", source="DOID:9590", source="i2s"}
xref: SCTID:79509009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="DOID:9590"}
xref: UMLS:C0156264 {source="MONDO:equivalentTo", source="DOID:9590"}
is_a: MONDO:0024647 ! urolithiasis
property_value: closeMatch http://identifiers.org/snomedct/155878002
property_value: closeMatch http://identifiers.org/snomedct/155881007
property_value: closeMatch http://identifiers.org/snomedct/197828005
property_value: closeMatch http://identifiers.org/snomedct/197832004
property_value: exactMatch DOID:9590
property_value: exactMatch http://identifiers.org/snomedct/79509009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156264

[Term]
id: MONDO:0004829
name: Krukenberg carcinoma
alt_id: MONDO:0006261
def: "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." [NCIT:C3153]
synonym: "Krukenberg neoplasm" EXACT [DOID:9597, NCIT:C3153]
synonym: "Krukenberg tumor" EXACT [DOID:9597, NCIT:C3153]
synonym: "Krukenberg’s tumor" RELATED [GARD:0008627]
xref: DOID:9597 {source="MONDO:equivalentTo"}
xref: EFO:1000316 {source="MONDO:equivalentTo"}
xref: GARD:0008627 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:D007725 {source="MONDO:equivalentTo", source="DOID:9597"}
xref: NCIT:C3153 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.16", source="DOID:9597", source="EFO:1000316"}
xref: SCTID:359987004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.19", source="DOID:9597"}
xref: UMLS:C0022790 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3153", source="MONDO:equivalentTo", source="DOID:9597"}
is_a: MONDO:0002752 ! ovarian adenocarcinoma
is_a: MONDO:0005092 {source="EFO:1000316", source="MESH:D007725", source="NCIT:C3153/inferred", source="NCIT:C66717"} ! signet ring cell carcinoma
is_a: MONDO:0024879 ! metastatic carcinoma
relationship: disease_arises_from_feature MONDO:0005092 ! signet ring cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/4305004
property_value: closeMatch http://identifiers.org/snomedct/94455000
property_value: exactMatch DOID:9597
property_value: exactMatch http://identifiers.org/mesh/D007725
property_value: exactMatch http://identifiers.org/snomedct/359987004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022790
property_value: exactMatch NCIT:C3153

[Term]
id: MONDO:0004830
name: fasciitis (disease)
def: "Inflammation process in fascia." [NCIT:P378]
synonym: "fascia inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "fasciitis" EXACT [MONDO:ambiguous]
synonym: "Fascitis" EXACT [NCIT:C50559]
synonym: "inflammation of fascia" EXACT []
xref: COHD:133569 {source="MONDO:equivalentTo"}
xref: DOID:9598 {source="MONDO:equivalentTo"}
xref: HP:0100537 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M72.9 {source="DOID:9598"}
xref: ICD9:729.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:9598"}
xref: MESH:D005208 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9598"}
xref: NCIT:C50559 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9598"}
xref: SCTID:36948007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9598"}
xref: UMLS:C0015645 {source="NCIT:C50559", source="MONDO:equivalentTo", source="DOID:9598"}
is_a: MONDO:0002081 ! musculoskeletal system disease
is_a: MONDO:0003900 {source="DOID:9598", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/203123000
property_value: exactMatch DOID:9598
property_value: exactMatch http://identifiers.org/mesh/D005208
property_value: exactMatch http://identifiers.org/snomedct/36948007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015645
property_value: exactMatch NCIT:C50559

[Term]
id: MONDO:0004831
name: proliferative fasciitis
def: "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize." [NCIT:C4728]
xref: DOID:9599 {source="MONDO:equivalentTo"}
xref: NCIT:C4728 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:9599"}
xref: SCTID:254737002 {source="MONDO:equivalentTo", source="DOID:9599", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432528 {source="NCIT:C4728", source="MONDO:equivalentTo", source="DOID:9599"}
is_a: MONDO:0004830 {source="DOID:9599", source="linkedlifedata"} ! fasciitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/35548007
property_value: exactMatch DOID:9599
property_value: exactMatch http://identifiers.org/snomedct/254737002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432528
property_value: exactMatch NCIT:C4728

[Term]
id: MONDO:0004832
name: esophagus leiomyoma
def: "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." [NCIT:P378]
synonym: "esophageal leiomyoma" EXACT [NCIT:C3866]
synonym: "esophagus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3866]
synonym: "leiomyoma of esophagus" EXACT [NCIT:C3866]
synonym: "leiomyoma of the esophagus" EXACT [NCIT:C3866]
xref: DOID:960 {source="MONDO:equivalentTo"}
xref: NCIT:C3866 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:960"}
xref: SCTID:276805005 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo", source="DOID:960"}
xref: UMLS:C0238114 {source="MONDO:equivalentTo", source="NCIT:C3866", source="DOID:960"}
is_a: MONDO:0001572 {source="DOID:960", source="MONDO:Redundant", source="NCIT:C3866", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C3866", source="linkedlifedata"} ! benign neoplasm of esophagus
property_value: exactMatch DOID:960
property_value: exactMatch http://identifiers.org/snomedct/276805005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238114
property_value: exactMatch NCIT:C3866

[Term]
id: MONDO:0004833
name: plantar fasciitis
def: "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." [MESH:D036981]
xref: COHD:4002650 {source="MONDO:equivalentTo"}
xref: DOID:9600 {source="MONDO:equivalentTo"}
xref: EFO:1001909 {source="MONDO:equivalentTo"}
xref: ICD10:M72.2 {source="DOID:9600"}
xref: MESH:D036981 {source="DOID:9600", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:202882003 {source="DOID:9600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149756 {source="DOID:9600", source="MONDO:equivalentTo"}
is_a: MONDO:0004830 {source="DOID:9600", source="MESH:D036981", source="linkedlifedata"} ! fasciitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/156725003
property_value: closeMatch http://identifiers.org/snomedct/203056001
property_value: closeMatch http://identifiers.org/snomedct/2482001
property_value: exactMatch DOID:9600
property_value: exactMatch http://identifiers.org/mesh/D036981
property_value: exactMatch http://identifiers.org/snomedct/202882003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149756

[Term]
id: MONDO:0004834
name: ischemic fasciitis
def: "A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative." [NCIT:P378]
synonym: "atypical decubital fibroplasia" EXACT [DOID:9601, NCIT:C6483]
xref: DOID:9601 {source="MONDO:equivalentTo"}
xref: NCIT:C6483 {source="DOID:9601", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:403990005 {source="DOID:9601", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1304514 {source="DOID:9601", source="NCIT:C6483", source="MONDO:equivalentTo"}
is_a: MONDO:0004830 {source="DOID:9601", source="NCIT:C6483", source="linkedlifedata"} ! fasciitis (disease)
property_value: exactMatch DOID:9601
property_value: exactMatch http://identifiers.org/snomedct/403990005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304514
property_value: exactMatch NCIT:C6483

[Term]
id: MONDO:0004835
name: necrotizing fasciitis
def: "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." [https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis]
subset: gard_rare {source="GARD:0006454"}
xref: COHD:133566 {source="MONDO:equivalentTo"}
xref: DOID:9602 {source="MONDO:equivalentTo"}
xref: GARD:0006454 {source="MONDO:equivalentTo"}
xref: ICD10:M72.6 {source="DOID:9602", source="MONDO:equivalentTo"}
xref: ICD9:728.86 {source="DOID:9602", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019115 {source="DOID:9602", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84916 {source="DOID:9602", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:52486002 {source="DOID:9602", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238124 {source="DOID:9602", source="MONDO:equivalentTo", source="NCIT:C84916"}
is_a: MONDO:0004830 {source="DOID:9602", source="MESH:D019115", source="NCIT:C84916", source="linkedlifedata", source="linkedlifedata/inferred"} ! fasciitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/186428007
property_value: exactMatch DOID:9602
property_value: exactMatch http://identifiers.org/mesh/D019115
property_value: exactMatch http://identifiers.org/snomedct/52486002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238124
property_value: exactMatch NCIT:C84916
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis xsd:anyURI {source="GARD:0006454"}

[Term]
id: MONDO:0004836
name: intravascular fasciitis
def: "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:P378]
synonym: "intravascular nodular fasciitis" EXACT [NCIT:C4729]
synonym: "intravascular pseudosarcomatous fasciitis" EXACT [DOID:9603, NCIT:C4729]
xref: DOID:9603 {source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4729 {source="DOID:9603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: SCTID:254738007 {source="DOID:9603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0432529 {source="DOID:9603", source="NCIT:C4729", source="MONDO:equivalentTo"}
is_a: MONDO:0004187 {source="DOID:9603", source="MONDOLEX:0004836", source="NCIT:C4729"} ! nodular fasciitis
property_value: exactMatch DOID:9603
property_value: exactMatch http://identifiers.org/snomedct/254738007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432529
property_value: exactMatch NCIT:C4729

[Term]
id: MONDO:0004837
name: neurofibroma of the esophagus
def: "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." [NCIT:P378]
synonym: "esophageal neurofibroma" EXACT [NCIT:C5704]
synonym: "esophagus neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5704]
synonym: "neurofibroma of esophagus" EXACT [NCIT:C5704]
synonym: "neurofibroma of the esophagus" EXACT [NCIT:C5704]
xref: DOID:961 {source="MONDO:equivalentTo"}
xref: NCIT:C5704 {source="MONDO:equivalentTo", source="DOID:961", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333463 {source="MONDO:equivalentTo", source="DOID:961", source="NCIT:C5704"}
is_a: MONDO:0016755 {source="DOID:961", source="MONDO:Redundant", source="NCIT:C5704"} ! neurofibroma
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C5704/inferred"} ! neoplasm of esophagus
property_value: exactMatch DOID:961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333463
property_value: exactMatch NCIT:C5704

[Term]
id: MONDO:0004838
name: orthostatic proteinuria
synonym: "postural albuminuria" EXACT [DOID:9617]
xref: COHD:74080 {source="MONDO:equivalentTo"}
xref: DOID:9617 {source="MONDO:equivalentTo"}
xref: ICD10:R80.2 {source="DOID:9617"}
xref: ICD9:593.6 {source="DOID:9617"}
xref: UMLS:C0232867 {source="MONDO:equivalentTo", source="DOID:9617"}
is_a: MONDO:0005240 {source="DOID:9617"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/155874000
property_value: closeMatch http://identifiers.org/snomedct/32482005
property_value: closeMatch http://identifiers.org/snomedct/77872002
property_value: closeMatch http://identifiers.org/snomedct/78719009
property_value: exactMatch DOID:9617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0232867

[Term]
id: MONDO:0004839
name: obsolete neurofibroma
is_obsolete: true
replaced_by: MONDO:0016755

[Term]
id: MONDO:0004840
name: non-congenital cyst of kidney
xref: DOID:9621 {source="MONDO:equivalentTo"}
xref: ICD10:N28.1 {source="DOID:9621"}
xref: ICD9:593.2 {source="DOID:9621"}
xref: SCTID:105999006 {source="MONDO:equivalentTo", source="DOID:9621"}
xref: UMLS:C0268799 {source="MONDO:equivalentTo", source="DOID:9621"}
is_a: MONDO:0002473 {source="DOID:9621", source="linkedlifedata"} ! cystic kidney disease
property_value: closeMatch http://identifiers.org/snomedct/155872001
property_value: closeMatch http://identifiers.org/snomedct/197803002
property_value: closeMatch http://identifiers.org/snomedct/266625006
property_value: exactMatch DOID:9621
property_value: exactMatch http://identifiers.org/snomedct/105999006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268799

[Term]
id: MONDO:0004841
name: kidney hypertrophy
def: "Global enlargement of the renal parenchyma in one or both kidneys." [NCIT:P378]
synonym: "hypertrophy of the kidney" EXACT [NCIT:C122991]
synonym: "renal Hypertrophy" EXACT [NCIT:C122991]
xref: COHD:192686 {source="MONDO:equivalentTo"}
xref: DOID:9622 {source="MONDO:equivalentTo"}
xref: ICD10:N28.81 {source="DOID:9622", source="MONDO:equivalentTo"}
xref: ICD9:593.1 {source="DOID:9622", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C122991 {source="DOID:9622", source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo"}
xref: SCTID:88531004 {source="DOID:9622", source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
xref: UMLS:C0156259 {source="DOID:9622", source="MONDO:equivalentTo", source="NCIT:C122991"}
is_a: MONDO:0005240 {source="DOID:9622", source="NCIT:C122991/inferred", source="linkedlifedata"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/197800004
property_value: exactMatch DOID:9622
property_value: exactMatch http://identifiers.org/snomedct/88531004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156259
property_value: exactMatch NCIT:C122991

[Term]
id: MONDO:0004842
name: stomatitis
def: "Inflammation of the oral mucosa due to local or systemic factors." [NCIT:P378]
synonym: "inflammation of mouth mucosa" EXACT []
synonym: "mouth mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mucositis oral" EXACT [NCIT:C26887]
synonym: "oral mucositis" EXACT [NCIT:C26887]
xref: COHD:138455 {source="MONDO:equivalentTo"}
xref: DOID:9637 {source="MONDO:equivalentTo"}
xref: EFO:1001904 {source="MONDO:equivalentTo"}
xref: ICD10:K12.1 {source="DOID:9637"}
xref: ICD9:528.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:528.00 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013280 {source="DOID:9637", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26887 {source="DOID:9637", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:61170000 {source="DOID:9637", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0038362 {source="DOID:9637", source="MONDO:equivalentTo"}
xref: UMLS:C1568868 {source="MONDO:equivalentTo", source="NCIT:C26887", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0020579 ! mucositis
is_a: MONDO:0044992 ! mouth mucosa disease
property_value: closeMatch http://identifiers.org/snomedct/155660009
property_value: closeMatch http://identifiers.org/snomedct/196527002
property_value: closeMatch http://identifiers.org/snomedct/95361005
property_value: exactMatch DOID:9637
property_value: exactMatch http://identifiers.org/mesh/D013280
property_value: exactMatch http://identifiers.org/snomedct/61170000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1568868
property_value: exactMatch NCIT:C26887

[Term]
id: MONDO:0004843
name: pathologic nystagmus
def: "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." [NCIT:P378]
xref: DOID:9650 {source="MONDO:equivalentTo"}
xref: ICD10:H55.0 {source="DOID:9650"}
xref: ICD10:H55.00 {source="DOID:9650"}
xref: ICD9:379.50 {source="DOID:9650"}
xref: MESH:D009759 {source="MONDO:equivalentTo", source="DOID:9650"}
xref: UMLS:C0028738 {source="MONDO:equivalentTo", source="DOID:9650"}
is_a: MONDO:0001584 {source="DOID:9650"} ! ocular motility disease
property_value: closeMatch http://identifiers.org/snomedct/155205009
property_value: closeMatch http://identifiers.org/snomedct/194171007
property_value: closeMatch http://identifiers.org/snomedct/194172000
property_value: closeMatch http://identifiers.org/snomedct/267750005
property_value: closeMatch http://identifiers.org/snomedct/563001
property_value: exactMatch DOID:9650
property_value: exactMatch http://identifiers.org/mesh/D009759
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028738
property_value: exactMatch NCIT:C3282

[Term]
id: MONDO:0004844
name: oral mucosa leukoplakia
def: "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3187]
synonym: "leukokeratosis of oral mucosa" EXACT [NCIT:C3187]
synonym: "leukoplakia of oral mucosa" EXACT [NCIT:C3187]
synonym: "leukoplakia of the oral mucosa" EXACT [NCIT:C3187]
synonym: "oral keratoses" EXACT [NCIT:C3187]
synonym: "oral keratosis" EXACT [NCIT:C3187]
synonym: "oral leukoplakia" EXACT [NCIT:C3187]
xref: COHD:138466 {source="MONDO:equivalentTo"}
xref: DOID:9655 {source="MONDO:equivalentTo"}
xref: GARD:0007260 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:K13.2 {source="DOID:9655"}
xref: ICD10:K13.21 {source="DOID:9655"}
xref: ICD9:528.6 {source="DOID:9655", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007972 {source="MONDO:equivalentTo"}
xref: NCIT:C3187 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.88"}
xref: SCTID:414603003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C0023532 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3187", source="MONDO:equivalentTo"}
is_a: MONDO:0043243 {source="MESH:D007972", source="MONDO:Redundant", source="NCIT:C3187", source="linkedlifedata"} ! leukoplakia
is_a: MONDO:0044992 ! mouth mucosa disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112530
property_value: exactMatch DOID:9655
property_value: exactMatch http://identifiers.org/mesh/D007972
property_value: exactMatch http://identifiers.org/snomedct/414603003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023532
property_value: exactMatch NCIT:C3187

[Term]
id: MONDO:0004845
name: aphthous stomatitis
def: "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." [NCIT:P378]
subset: gard_rare {source="GARD:0005834"}
synonym: "aphtha" EXACT [DOID:9663]
synonym: "aphthous ulceration" EXACT [DOID:9663]
synonym: "canker sore" RELATED [DOID:9663, MTHICD9_2006:528.2]
synonym: "oral aphthae" EXACT [DOID:9663, ICD9CM_2006:528.2]
synonym: "oral aphthous ulcer" RELATED [DOID:9663]
synonym: "oral ulcer" EXACT [DOID:9663]
xref: DOID:9663 {source="MONDO:equivalentTo"}
xref: GARD:0005834 {source="MONDO:equivalentTo"}
xref: ICD9:528.2 {source="DOID:9663"}
is_a: MONDO:0005318 {source="MONDOLEX:0004845"} ! canker sore
property_value: closeMatch http://identifiers.org/snomedct/110426005
property_value: closeMatch http://identifiers.org/snomedct/155661008
property_value: closeMatch http://identifiers.org/snomedct/196529004
property_value: closeMatch http://identifiers.org/snomedct/196534000
property_value: closeMatch http://identifiers.org/snomedct/196536003
property_value: closeMatch http://identifiers.org/snomedct/303117009
property_value: closeMatch http://identifiers.org/snomedct/321258009
property_value: closeMatch http://identifiers.org/snomedct/322224003
property_value: closeMatch http://identifiers.org/snomedct/367526005
property_value: closeMatch http://identifiers.org/snomedct/398870000
property_value: closeMatch http://identifiers.org/snomedct/426965005
property_value: closeMatch http://identifiers.org/snomedct/83312008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038363
property_value: exactMatch DOID:9663
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis xsd:anyURI {source="GARD:0005834"}

[Term]
id: MONDO:0004846
name: placental abruption (disease)
def: "Vaginal bleeding preceding the 20th week of gestation." [NCIT:P378]
synonym: "abruptio placenta" EXACT [DOID:9667]
synonym: "abruptio placentae" EXACT [CSP2005:2403-9411, DOID:9667]
synonym: "Abruptio placentae, premature separation of placenta" EXACT [NCIT:C26685]
synonym: "placental abruption" EXACT [MONDO:ambiguous]
synonym: "premature separation of placenta" EXACT [NCIT:C26685]
xref: DOID:9667 {source="MONDO:equivalentTo"}
xref: EFO:1001754 {source="MONDO:equivalentTo"}
xref: HP:0011419 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:O20.0 {source="DOID:9667"}
xref: ICD9:640.0 {source="DOID:9667"}
xref: ICD9:640.03 {source="DOID:9667"}
xref: ICD9:641.20 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000037 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26685 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:415105001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005917 {source="DOID:9667", source="MESH:D000037", source="NCIT:C26685/inferred", source="linkedlifedata"} ! placenta disease
property_value: closeMatch http://identifiers.org/mesh/D000033
property_value: closeMatch http://identifiers.org/snomedct/156098004
property_value: closeMatch http://identifiers.org/snomedct/198882006
property_value: closeMatch http://identifiers.org/snomedct/198885008
property_value: closeMatch http://identifiers.org/snomedct/22689002
property_value: closeMatch http://identifiers.org/snomedct/54048003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0000821
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0000832
property_value: exactMatch DOID:9667
property_value: exactMatch http://identifiers.org/mesh/D000037
property_value: exactMatch http://identifiers.org/snomedct/415105001
property_value: exactMatch NCIT:C112857
property_value: exactMatch NCIT:C26685

[Term]
id: MONDO:0004847
name: senile cataract
def: "A cataract with no obvious cause occurring in persons over 50 years old." [https://medical-dictionary.thefreedictionary.com/senile+cataract]
xref: DOID:9669 {source="MONDO:equivalentTo"}
xref: ICD10:H25 {source="DOID:9669"}
xref: ICD9:366.1 {source="DOID:9669"}
xref: ICD9:366.10 {source="DOID:9669", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35012 {source="DOID:9669", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:39450006 {source="DOID:9669", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20"}
is_a: MONDO:0005129 {source="DOID:9669", source="NCIT:C35012/inferred", source="linkedlifedata"} ! cataract (disease)
property_value: closeMatch http://identifiers.org/snomedct/155127007
property_value: closeMatch http://identifiers.org/snomedct/193582000
property_value: closeMatch http://identifiers.org/snomedct/193583005
property_value: closeMatch http://identifiers.org/snomedct/193594009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036646
property_value: exactMatch DOID:9669
property_value: exactMatch http://identifiers.org/snomedct/39450006
property_value: exactMatch NCIT:C35012

[Term]
id: MONDO:0004848
name: ulcerative stomatitis
def: "Inflammation of the mouth mucosa associated with the presence of ulcers." [NCIT:C35039]
synonym: "ulcerative stomatitis" EXACT [NCIT:C35039]
xref: DOID:9673 {source="MONDO:equivalentTo"}
xref: ICD10:K12.1 {source="DOID:9673"}
xref: ICD9:528.00 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35039 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9673"}
xref: SCTID:450005 {source="MONDO:equivalentTo", source="DOID:9673", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038367 {source="MONDO:equivalentTo", source="NCIT:C35039", source="DOID:9673"}
is_a: MONDO:0004842 {source="DOID:9673", source="NCIT:C35039", source="linkedlifedata"} ! stomatitis
property_value: exactMatch DOID:9673
property_value: exactMatch http://identifiers.org/snomedct/450005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038367
property_value: exactMatch NCIT:C35039

[Term]
id: MONDO:0004849
name: pulmonary emphysema
def: "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." [NCIT:C3348]
synonym: "emphysema" EXACT [MONDO:0005024]
synonym: "emphysema, pulmonary" EXACT [NCIT:C3348]
xref: COHD:261325 {source="MONDO:equivalentTo"}
xref: DC:0000512 {source="MONDO:equivalentTo"}
xref: DOID:9675 {source="EFO:0000464", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: EFO:0000464 {source="MONDO:equivalentTo"}
xref: GARD:0011937 {source="MONDO:equivalentTo"}
xref: ICD10:J43 {source="MONDO:equivalentTo"}
xref: ICD10:J43.8 {source="DOID:9675"}
xref: ICD9:492 {source="EFO:0000464"}
xref: ICD9:492.8 {source="MONDO:relatedTo", source="i2s", source="DOID:9675"}
xref: MESH:D004646 {source="EFO:0000464", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:D011656 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3348 {source="EFO:0000464", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.79/0.92"}
xref: SCTID:87433001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005002 {source="DOID:9675", source="MESH:D011656", source="NCIT:C3348", source="linkedlifedata"} ! chronic obstructive pulmonary disease
property_value: closeMatch http://identifiers.org/snomedct/195962007
property_value: closeMatch http://identifiers.org/snomedct/195965009
property_value: closeMatch http://identifiers.org/snomedct/196230005
property_value: closeMatch http://identifiers.org/snomedct/266357002
property_value: closeMatch http://identifiers.org/snomedct/49158009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029607
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034067
property_value: exactMatch DOID:9675
property_value: exactMatch http://identifiers.org/mesh/D004646
property_value: exactMatch http://identifiers.org/mesh/D011656
property_value: exactMatch http://identifiers.org/snomedct/87433001
property_value: exactMatch NCIT:C3348

[Term]
id: MONDO:0004850
name: obsolete yellow fever
is_obsolete: true
replaced_by: MONDO:0020502

[Term]
id: MONDO:0004851
name: toxic myocarditis
xref: DOID:9694 {source="MONDO:equivalentTo"}
xref: ICD9:422.93 {source="MONDO:equivalentTo", source="i2s", source="DOID:9694"}
xref: SCTID:31993003 {source="MONDO:equivalentTo", source="DOID:9694", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155691 {source="MONDO:equivalentTo", source="DOID:9694"}
is_a: MONDO:0002815 {source="DOID:9694"} ! acute myocarditis
property_value: exactMatch DOID:9694
property_value: exactMatch http://identifiers.org/snomedct/31993003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155691

[Term]
id: MONDO:0004852
name: gonococcal keratitis
xref: DOID:9697 {source="MONDO:equivalentTo"}
xref: ICD10:A54.33 {source="MONDO:equivalentTo", source="DOID:9697"}
xref: ICD9:098.43 {source="DOID:9697"}
xref: SCTID:40149008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9697"}
xref: UMLS:C0153214 {source="MONDO:equivalentTo", source="DOID:9697"}
is_a: MONDO:0004853 ! gonococcal endophthalmia
is_a: MONDO:0021201 ! skin infection
is_a: MONDO:0023865 ! corneal infection
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/snomedct/186924001
property_value: exactMatch DOID:9697
property_value: exactMatch http://identifiers.org/snomedct/40149008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153214

[Term]
id: MONDO:0004853
name: gonococcal endophthalmia
xref: DOID:9698 {source="MONDO:equivalentTo"}
xref: ICD10:A54.39 {source="DOID:9698"}
xref: ICD9:098.42 {source="MONDO:equivalentTo", source="i2s", source="DOID:9698"}
xref: SCTID:111807001 {source="MONDO:equivalentTo", source="DOID:9698", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153213 {source="MONDO:equivalentTo", source="DOID:9698"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea
is_a: MONDO:0016047 {source="DOID:9698", source="MONDO:Entailed", source="MONDO:Redundant"} ! endophthalmitis
property_value: closeMatch http://identifiers.org/snomedct/186923007
property_value: exactMatch DOID:9698
property_value: exactMatch http://identifiers.org/snomedct/111807001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153213

[Term]
id: MONDO:0004854
name: ophthalmia neonatorum
def: "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." [NCIT:P378]
synonym: "gonococcal conjunctivitis" EXACT EXCLUDE [DOID:9699]
synonym: "gonococcal conjunctivitis (neonatorum)" EXACT [DOID:9699, ICD9CM_2006:098.40]
synonym: "gonococcal ophthalmia neonatorum" EXACT [DOID:9699, MTHICD9_2006:098.40]
synonym: "neonatal conjunctivitis" EXACT [DOID:9699]
xref: COHD:372842 {source="MONDO:equivalentTo"}
xref: DOID:9699 {source="MONDO:equivalentTo"}
xref: ICD10:P39.1 {source="DOID:9699"}
xref: ICD9:771.6 {source="DOID:9699"}
xref: MESH:D009878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116815 {source="DOID:9699", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.55"}
xref: SCTID:34298002 {source="DOID:9699", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.53"}
xref: UMLS:C0029076 {source="DOID:9699", source="MONDO:equivalentTo", source="NCIT:C116815"}
is_a: MONDO:0015455 ! gonococcal conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/157120005
property_value: closeMatch http://identifiers.org/snomedct/206345004
property_value: closeMatch http://identifiers.org/snomedct/206354001
property_value: closeMatch http://identifiers.org/snomedct/80881003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027611
property_value: exactMatch DOID:9699
property_value: exactMatch http://identifiers.org/mesh/D009878
property_value: exactMatch http://identifiers.org/snomedct/34298002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029076
property_value: exactMatch NCIT:C116815

[Term]
id: MONDO:0004855
name: tenosynovitis
def: "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." [MESH:D013717]
synonym: "Inflammation of tendon sheath" EXACT [DOID:970]
synonym: "inflammation of tendon sheath" EXACT []
synonym: "tendon sheath inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Tenosynovitides" EXACT [MESH:D013717]
xref: DOID:970 {source="MONDO:equivalentTo"}
xref: EFO:1001435 {source="MONDO:equivalentTo"}
xref: MESH:D013717 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:970"}
xref: SCTID:67801009 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo", source="DOID:970"}
xref: UMLS:C0039520 {source="MONDO:equivalentTo", source="DOID:970"}
is_a: MONDO:0004857 {source="DOID:970", source="MESH:D013717", source="MONDO:Redundant", source="linkedlifedata"} ! tendinitis
is_a: MONDO:0006816 {source="DOID:970"} ! arthropathy
is_a: MONDO:0024876 ! tendon sheath disorder
property_value: closeMatch http://identifiers.org/snomedct/156666009
property_value: closeMatch http://identifiers.org/snomedct/240035004
property_value: closeMatch http://identifiers.org/snomedct/268092005
property_value: exactMatch DOID:970
property_value: exactMatch http://identifiers.org/mesh/D013717
property_value: exactMatch http://identifiers.org/snomedct/67801009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039520

[Term]
id: MONDO:0004856
name: rosacea conjunctivitis
xref: COHD:378429 {source="MONDO:equivalentTo"}
xref: DOID:9709 {source="MONDO:equivalentTo"}
xref: ICD9:372.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:9709"}
xref: SCTID:10128002 {source="MONDO:equivalentTo", source="DOID:9709", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155152 {source="MONDO:equivalentTo", source="DOID:9709"}
is_a: MONDO:0003799 {source="DOID:9709", source="linkedlifedata"} ! conjunctivitis (disease)
property_value: exactMatch DOID:9709
property_value: exactMatch http://identifiers.org/snomedct/10128002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155152

[Term]
id: MONDO:0004857
name: tendinitis
def: "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body." [NCIT:C97141]
synonym: "inflammation of tendon" EXACT []
synonym: "tendon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "tendonitis" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C97141]
xref: DOID:971 {source="MONDO:equivalentTo"}
xref: ICD10:M77.9 {source="DOID:971"}
xref: MESH:D052256 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:971"}
xref: NCIT:C97141 {source="MONDO:equivalentTo", source="DOID:971"}
xref: SCTID:34840004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:971"}
xref: UMLS:C0039503 {source="MONDO:equivalentTo", source="NCIT:C97141", source="DOID:971"}
is_a: MONDO:0021167 {source="DOID:971"} ! myositis
is_a: MONDO:0100010 ! tendinopathy
property_value: closeMatch http://identifiers.org/snomedct/156665008
property_value: closeMatch http://identifiers.org/snomedct/202893001
property_value: closeMatch http://identifiers.org/snomedct/267996008
property_value: closeMatch http://identifiers.org/snomedct/268091003
property_value: closeMatch http://identifiers.org/snomedct/312785002
property_value: exactMatch DOID:971
property_value: exactMatch http://identifiers.org/mesh/D052256
property_value: exactMatch http://identifiers.org/snomedct/34840004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039503
property_value: exactMatch NCIT:C97141

[Term]
id: MONDO:0004858
name: occlusion of gallbladder
def: "Blockage of the normal flow of the contents of the gallbladder." [NCIT:P378]
synonym: "obstruction of gallbladder" EXACT [DOID:9714, ICD9CM_2006:575.2]
xref: COHD:192363 {source="MONDO:equivalentTo"}
xref: DOID:9714 {source="MONDO:equivalentTo"}
xref: ICD10:K82.0 {source="DOID:9714", source="MONDO:equivalentTo"}
xref: ICD9:575.2 {source="DOID:9714"}
xref: SCTID:197416005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:9714", source="MONDO:equivalentTo"}
xref: UMLS:C0156214 {source="DOID:9714", source="MONDO:equivalentTo"}
is_a: MONDO:0005281 {source="DOID:9714", source="linkedlifedata"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/snomedct/197415009
property_value: closeMatch http://identifiers.org/snomedct/197420009
property_value: closeMatch http://identifiers.org/snomedct/75726005
property_value: exactMatch DOID:9714
property_value: exactMatch http://identifiers.org/snomedct/197416005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156214
property_value: exactMatch NCIT:C78308

[Term]
id: MONDO:0004859
name: hydrops of gallbladder
xref: COHD:195307 {source="MONDO:equivalentTo"}
xref: DOID:9717 {source="MONDO:equivalentTo"}
xref: ICD10:K82.1 {source="DOID:9717", source="MONDO:equivalentTo"}
xref: ICD9:575.3 {source="DOID:9717", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:47312008 {source="DOID:9717", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152445 {source="DOID:9717", source="MONDO:equivalentTo"}
is_a: MONDO:0005281 {source="DOID:9717", source="linkedlifedata"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/snomedct/197421008
property_value: exactMatch DOID:9717
property_value: exactMatch http://identifiers.org/snomedct/47312008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152445

[Term]
id: MONDO:0004860
name: vitreous disease
def: "A disease involving the vitreous humor." [MONDO:DesignPattern]
synonym: "disease of vitreous humor" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vitreous humor" EXACT []
synonym: "disorder of vitreous humor" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vitreous humor" RELATED [MONDO:patterns/location_top]
synonym: "vitreous humor disease" EXACT [MONDO:patterns/location]
synonym: "vitreous humor disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:9720 {source="MONDO:equivalentTo"}
xref: ICD10:H43.3 {source="DOID:9720"}
xref: ICD10:H43.39 {source="DOID:9720"}
xref: ICD9:379.24 {source="DOID:9720"}
is_a: MONDO:0044137 ! vitreous body disorder
property_value: closeMatch http://identifiers.org/snomedct/194154006
property_value: closeMatch http://identifiers.org/snomedct/194636006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029872
property_value: exactMatch DOID:9720

[Term]
id: MONDO:0004861
name: ophthalmia nodosa
xref: DOID:9722 {source="MONDO:equivalentTo"}
xref: ICD10:H16.24 {source="DOID:9722"}
xref: ICD9:360.14 {source="DOID:9722", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:12371008 {source="DOID:9722", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154775 {source="DOID:9722", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="DOID:9722", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: exactMatch DOID:9722
property_value: exactMatch http://identifiers.org/snomedct/12371008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154775

[Term]
id: MONDO:0004862
name: vitreous abscess
xref: DOID:9723 {source="MONDO:equivalentTo"}
xref: ICD9:360.04 {source="DOID:9723", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:48142003 {source="DOID:9723", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042904 {source="DOID:9723", source="MONDO:equivalentTo"}
is_a: MONDO:0004860 {source="DOID:9723"} ! vitreous disease
is_a: MONDO:0004863 {source="DOID:9723"} ! purulent endophthalmitis
property_value: exactMatch DOID:9723
property_value: exactMatch http://identifiers.org/snomedct/48142003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042904

[Term]
id: MONDO:0004863
name: purulent endophthalmitis
xref: COHD:432621 {source="MONDO:equivalentTo"}
xref: DOID:9724 {source="MONDO:equivalentTo"}
xref: ICD10:H44.0 {source="DOID:9724", source="MONDO:equivalentTo"}
xref: ICD10:H44.00 {source="DOID:9724"}
xref: ICD9:360.0 {source="DOID:9724"}
xref: ICD9:360.00 {source="DOID:9724", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:41720003 {source="DOID:9724", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0259800 {source="DOID:9724", source="MONDO:equivalentTo"}
is_a: MONDO:0016047 {source="DOID:9724", source="linkedlifedata", source="linkedlifedata/inferred"} ! endophthalmitis
property_value: closeMatch http://identifiers.org/snomedct/193267009
property_value: closeMatch http://identifiers.org/snomedct/193271007
property_value: exactMatch DOID:9724
property_value: exactMatch http://identifiers.org/snomedct/41720003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259800

[Term]
id: MONDO:0004864
name: acute allergic mucoid otitis media
def: "A blue drum syndrome caused by an allergen." [DOID:9735, PMID:15301306]
xref: DOID:9735 {source="MONDO:equivalentTo"}
xref: ICD9:381.05 {source="DOID:9735", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:8326008 {source="DOID:9735", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155419 {source="DOID:9735", source="MONDO:equivalentTo"}
is_a: MONDO:0004865 {source="DOID:9735", source="linkedlifedata"} ! blue drum syndrome
property_value: closeMatch http://identifiers.org/snomedct/194242003
property_value: exactMatch DOID:9735
property_value: exactMatch http://identifiers.org/snomedct/8326008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155419

[Term]
id: MONDO:0004865
name: blue drum syndrome
def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." [DOID:9736, http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
synonym: "acute mucoid otitis media" EXACT [DOID:9736, ICD9CM_2006:381.02]
synonym: "acute non-suppurative otitis media - mucoid" RELATED []
synonym: "blue drum syndrome" EXACT []
xref: COHD:374049 {source="MONDO:equivalentTo"}
xref: DOID:9736 {source="MONDO:equivalentTo"}
xref: ICD9:381.02 {source="DOID:9736", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:52353000 {source="DOID:9736", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0395863 {source="DOID:9736", source="MONDO:equivalentTo"}
is_a: MONDO:0002738 {source="DOID:9736", source="MONDOLEX:0004865", source="linkedlifedata"} ! acute transudative otitis media
property_value: exactMatch DOID:9736
property_value: exactMatch http://identifiers.org/snomedct/52353000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395863

[Term]
id: MONDO:0004866
name: eustachian tube disease
def: "A disease involving the pharyngotympanic tube." [MONDO:patterns/location_top]
synonym: "auditory tube disorder" RELATED []
synonym: "disease of eustachian tube" RELATED []
synonym: "disease of pharyngotympanic tube" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pharyngotympanic tube" EXACT []
synonym: "disorder of eustachian tube" RELATED []
synonym: "disorder of pharyngotympanic tube" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pharyngotympanic tube" RELATED [MONDO:patterns/location_top]
synonym: "eustachian tube disorder" EXACT []
synonym: "pharyngotympanic tube disease" EXACT [MONDO:patterns/location]
synonym: "pharyngotympanic tube disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:9739 {source="MONDO:equivalentTo"}
xref: ICD10:H68 {source="MONDO:equivalentTo"}
xref: ICD9:381.8 {source="DOID:9739"}
xref: ICD9:381.89 {source="MONDO:relatedTo", source="DOID:9739", source="i2s"}
xref: ICD9:381.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:69494008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0271468 {source="MONDO:equivalentTo"}
is_a: MONDO:0003276 ! middle ear disease
relationship: excluded_subClassOf MONDO:0001212 {source="DOID:9739"} ! non-suppurative otitis media
property_value: closeMatch http://identifiers.org/snomedct/194277003
property_value: closeMatch http://identifiers.org/snomedct/194278008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155435
property_value: exactMatch DOID:9739
property_value: exactMatch http://identifiers.org/snomedct/69494008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271468

[Term]
id: MONDO:0004867
name: upper respiratory tract disease
def: "A disease involving the upper respiratory tract." [MONDO:DesignPattern]
synonym: "disease of upper respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of upper respiratory tract" EXACT []
synonym: "disorder of upper respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disorder of upper respiratory tract" RELATED [MONDO:patterns/location_top]
synonym: "upper respiratory tract disease" EXACT [MONDO:patterns/location]
synonym: "upper respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:974 {source="MONDO:equivalentTo"}
xref: ICD9:478.1 {source="DOID:974"}
xref: ICD9:478.19 {source="DOID:974"}
xref: ICD9:478.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:201060008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="DOID:974", source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system disease
property_value: closeMatch http://identifiers.org/snomedct/195823002
property_value: closeMatch http://identifiers.org/snomedct/266346007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029581
property_value: exactMatch DOID:974
property_value: exactMatch http://identifiers.org/snomedct/201060008

[Term]
id: MONDO:0004868
name: biliary tract disease
def: "A disease involving the biliary tree." [MONDO:DesignPattern]
synonym: "biliary tree disease" EXACT [MONDO:patterns/location]
synonym: "biliary tree disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of biliary tree" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of biliary tree" EXACT []
synonym: "disorder of biliary tree" EXACT [MONDO:patterns/location_top]
synonym: "disorder of biliary tree" RELATED [MONDO:patterns/location_top]
xref: DOID:9741 {source="MONDO:equivalentTo"}
xref: ICD10:K83.9 {source="DOID:9741"}
xref: ICD9:576.9 {source="DOID:9741"}
xref: MESH:D001660 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9741"}
xref: SCTID:105997008 {source="MONDO:equivalentTo", source="DOID:9741"}
is_a: MONDO:0002515 {source="DOID:9741", source="MONDO:Entailed", source="MONDO:Redundant"} ! hepatobiliary disease
property_value: closeMatch http://identifiers.org/snomedct/155830002
property_value: closeMatch http://identifiers.org/snomedct/155832005
property_value: closeMatch http://identifiers.org/snomedct/266544009
property_value: closeMatch http://identifiers.org/snomedct/266545005
property_value: closeMatch http://identifiers.org/snomedct/5235004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005424
property_value: exactMatch DOID:9741
property_value: exactMatch http://identifiers.org/mesh/D001660
property_value: exactMatch http://identifiers.org/snomedct/105997008

[Term]
id: MONDO:0004869
name: pelvic varices
def: "A varicose disease that involves the pelvic region of trunk." [MONDO:patterns/location]
synonym: "pelvic region of trunk varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of pelvic region of trunk" EXACT [MONDO:design_pattern]
xref: COHD:197311 {source="MONDO:equivalentTo"}
xref: DOID:9742 {source="MONDO:equivalentTo"}
xref: ICD10:I86.2 {source="MONDO:equivalentTo", source="DOID:9742"}
xref: ICD9:456.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9742"}
xref: SCTID:17406005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9742"}
xref: UMLS:C0155795 {source="MONDO:equivalentTo", source="DOID:9742"}
is_a: MONDO:0008638 {source="DOID:9742", source="MONDO:Redundant", source="linkedlifedata"} ! varicose disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/195481006
property_value: closeMatch http://identifiers.org/snomedct/266271008
property_value: exactMatch DOID:9742
property_value: exactMatch http://identifiers.org/snomedct/17406005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155795

[Term]
id: MONDO:0004870
name: obsolete diabetic neuropathy
is_obsolete: true
replaced_by: MONDO:0006626

[Term]
id: MONDO:0004871
name: perianal hematoma
synonym: "external thrombosed haemorrhoids" EXACT [DOID:9745]
synonym: "Thrombosed external hemorrhoids" EXACT [DOID:9745]
xref: COHD:201045 {source="MONDO:equivalentTo"}
xref: DOID:9745 {source="MONDO:equivalentTo"}
xref: ICD10:K64.5 {source="DOID:9745"}
xref: ICD9:455.4 {source="DOID:9745", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:26373009 {source="DOID:9745", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004872 {source="DOID:9745", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemorrhoid
property_value: closeMatch http://identifiers.org/snomedct/155474006
property_value: closeMatch http://identifiers.org/snomedct/157525008
property_value: closeMatch http://identifiers.org/snomedct/211490002
property_value: closeMatch http://identifiers.org/snomedct/269372002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155784
property_value: exactMatch DOID:9745
property_value: exactMatch http://identifiers.org/snomedct/26373009

[Term]
id: MONDO:0004872
name: hemorrhoid
def: "Dilated veins in the anal canal." [NCIT:C26792]
synonym: "hemorrhoid" EXACT [NCIT:C26792]
synonym: "hemorrhoidal disease" EXACT [DOID:9746]
synonym: "Hemorrhoids" EXACT [NCIT:C26792]
xref: DOID:9746 {source="MONDO:equivalentTo"}
xref: ICD10:K64 {source="DOID:9746"}
xref: ICD9:455 {source="DOID:9746"}
xref: ICD9:455.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006484 {source="DOID:9746", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26792 {source="DOID:9746", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:70153002 {source="DOID:9746", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.47"}
xref: UMLS:C0019112 {source="DOID:9746", source="NCIT:C26792", source="MONDO:equivalentTo"}
is_a: MONDO:0004869 {source="DOID:9746", source="linkedlifedata", source="linkedlifedata/inferred"} ! pelvic varices
property_value: closeMatch http://identifiers.org/snomedct/155469003
property_value: closeMatch http://identifiers.org/snomedct/155477004
property_value: closeMatch http://identifiers.org/snomedct/195472000
property_value: exactMatch DOID:9746
property_value: exactMatch http://identifiers.org/mesh/D006484
property_value: exactMatch http://identifiers.org/snomedct/70153002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019112
property_value: exactMatch NCIT:C26792

[Term]
id: MONDO:0004873
name: internal hemorrhoid
def: "A hemorrhoid which originates above the dentate line." [NCIT:C35319]
synonym: "internal hemorrhoid" EXACT [NCIT:C35319]
xref: DOID:9749 {source="MONDO:equivalentTo"}
xref: ICD9:455.2 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:455.6 {source="DOID:9749"}
xref: NCIT:C35319 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:90458007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.11"}
xref: UMLS:C0265034 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35319"}
is_a: MONDO:0004872 {source="DOID:9749", source="NCIT:C35319", source="linkedlifedata"} ! hemorrhoid
property_value: closeMatch http://identifiers.org/snomedct/82985000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041844
property_value: exactMatch DOID:9749
property_value: exactMatch http://identifiers.org/snomedct/90458007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265034
property_value: exactMatch NCIT:C35319

[Term]
id: MONDO:0004874
name: ganglion or cyst of synovium/tendon/bursa
xref: DOID:9754 {source="MONDO:equivalentTo"}
xref: ICD9:727.49 {source="DOID:9754"}
is_a: MONDO:0006816 {source="DOID:9754"} ! arthropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158336
property_value: exactMatch DOID:9754

[Term]
id: MONDO:0004875
name: xanthogranulomatous cholecystitis
def: "Cholecystitis that is characterized by nodules containing lipid." [NCIT:P378]
subset: gard_rare {source="GARD:0009451"}
synonym: "CX" RELATED [GARD:0009451]
xref: DOID:9766 {source="MONDO:equivalentTo"}
xref: GARD:0009451 {source="MONDO:equivalentTo"}
xref: MESH:C536762 {source="DOID:9766", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35792 {source="DOID:9766", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:448286002 {source="DOID:9766", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1337035 {source="DOID:9766", source="NCIT:C35792", source="MONDO:equivalentTo"}
is_a: MONDO:0002155 {source="DOID:9766", source="MESH:C536762", source="NCIT:C35792"} ! cholecystitis
property_value: exactMatch DOID:9766
property_value: exactMatch http://identifiers.org/mesh/C536762
property_value: exactMatch http://identifiers.org/snomedct/448286002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337035
property_value: exactMatch NCIT:C35792
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis xsd:anyURI {source="GARD:0009451"}

[Term]
id: MONDO:0004876
name: myocardial stunning
def: "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." [MESH:D017682]
xref: DOID:9767 {source="MONDO:equivalentTo"}
xref: MESH:D017682 {source="DOID:9767", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0206146 {source="DOID:9767", source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:9767"} ! myocardial infarction (disease)
property_value: exactMatch DOID:9767
property_value: exactMatch http://identifiers.org/mesh/D017682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206146

[Term]
id: MONDO:0004877
name: transient neonatal thrombocytopenia
xref: COHD:435076 {source="MONDO:equivalentTo"}
xref: DOID:9771 {source="MONDO:equivalentTo"}
xref: ICD10:P61.0 {source="MONDO:equivalentTo", source="DOID:9771"}
xref: ICD9:776.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9771"}
xref: SCTID:23205009 {source="MONDO:kboom-pr-1.00/0.91/27.47", source="MONDO:equivalentTo", source="DOID:9771"}
xref: UMLS:C0158991 {source="MONDO:equivalentTo", source="DOID:9771"}
is_a: MONDO:0024277 ! neonatal thrombocytopenia
relationship: excluded_subClassOf MONDO:0001241 {source="DOID:9771"} ! transient neonatal neutropenia
property_value: closeMatch http://identifiers.org/snomedct/206514004
property_value: exactMatch DOID:9771
property_value: exactMatch http://identifiers.org/snomedct/23205009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158991

[Term]
id: MONDO:0004878
name: female breast upper-outer quadrant cancer
xref: DOID:9773 {source="MONDO:equivalentTo"}
xref: ICD10:C50.41 {source="DOID:9773"}
xref: ICD9:174.4 {source="DOID:9773"}
xref: SCTID:188154003 {source="MONDO:equivalentTo", source="DOID:9773"}
xref: UMLS:C0153552 {source="MONDO:equivalentTo", source="DOID:9773"}
is_a: MONDO:0004379 {source="DOID:9773", source="linkedlifedata"} ! female breast carcinoma
property_value: exactMatch DOID:9773
property_value: exactMatch http://identifiers.org/snomedct/188154003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153552

[Term]
id: MONDO:0004879
name: senile atrophy of choroid
xref: DOID:9776 {source="MONDO:equivalentTo"}
xref: ICD9:363.41 {source="DOID:9776", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:38513001 {source="DOID:9776", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154891 {source="DOID:9776", source="MONDO:equivalentTo"}
is_a: MONDO:0004885 {source="DOID:9776", source="linkedlifedata"} ! choroidal sclerosis
property_value: exactMatch DOID:9776
property_value: exactMatch http://identifiers.org/snomedct/38513001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154891

[Term]
id: MONDO:0004880
name: bowel dysfunction
def: "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "disease of lower digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "lower digestive tract disease" EXACT [MONDO:design_pattern]
xref: DOID:9779 {source="MONDO:equivalentTo"}
xref: ICD10:K59.9 {source="DOID:9779"}
xref: ICD9:564.9 {source="DOID:9779"}
xref: SCTID:235594008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C2004461 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:9779", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/81120009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016807
property_value: exactMatch DOID:9779
property_value: exactMatch http://identifiers.org/snomedct/235594008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004461

[Term]
id: MONDO:0004881
name: myositis fibrosa
def: "A form of myositis that is characterized by the formation of connective tissue within the muscle." [NCIT:C26985]
synonym: "interstitial myositis" EXACT [DOID:9788, ICD9CM_2006:728.81, NCIT:C26985]
xref: COHD:75048 {source="MONDO:equivalentTo"}
xref: DOID:9788 {source="MONDO:equivalentTo"}
xref: ICD10:M60.1 {source="DOID:9788", source="MONDO:equivalentTo"}
xref: ICD9:728.81 {source="DOID:9788", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26985 {source="DOID:9788", source="MONDO:equivalentTo"}
xref: SCTID:55925001 {source="DOID:9788", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.93"}
xref: UMLS:C0158362 {source="DOID:9788", source="MONDO:equivalentTo", source="NCIT:C26985"}
is_a: MONDO:0021167 {source="DOID:9788", source="MONDOLEX:0004881", source="NCIT:C26985", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis
property_value: exactMatch DOID:9788
property_value: exactMatch http://identifiers.org/snomedct/55925001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158362
property_value: exactMatch NCIT:C26985

[Term]
id: MONDO:0004882
name: angioid streaks of choroid
def: "A angioid streaks that involves the optic choroid." [MONDO:patterns/location]
synonym: "angioid streaks of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid angioid streaks" EXACT [MONDO:patterns/location]
xref: DOID:979 {source="MONDO:equivalentTo"}
xref: ICD9:363.43 {source="MONDO:equivalentTo", source="DOID:979", source="i2s"}
xref: SCTID:86103006 {source="MONDO:equivalentTo", source="DOID:979", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0002983 {source="MONDO:equivalentTo", source="DOID:979"}
is_a: MONDO:0004885 {source="DOID:979", source="MONDO:Entailed", source="linkedlifedata"} ! choroidal sclerosis
is_a: MONDO:0011782 {source="DOID:979", source="MONDO:Entailed", source="MONDO:Redundant"} ! angioid streaks
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch DOID:979
property_value: exactMatch http://identifiers.org/snomedct/86103006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002983

[Term]
id: MONDO:0004883
name: hereditary choroidal atrophy
xref: DOID:9794 {source="MONDO:equivalentTo"}
xref: ICD10:H31.2 {source="DOID:9794"}
xref: ICD10:H31.20 {source="DOID:9794"}
xref: ICD9:363.5 {source="DOID:9794"}
xref: ICD9:363.50 {source="MONDO:equivalentTo", source="i2s", source="DOID:9794"}
xref: SCTID:74469006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.69", source="DOID:9794"}
xref: UMLS:C0154893 {source="MONDO:equivalentTo", source="DOID:9794"}
is_a: MONDO:0004885 {source="DOID:9794", source="linkedlifedata"} ! choroidal sclerosis
property_value: closeMatch http://identifiers.org/snomedct/193465004
property_value: closeMatch http://identifiers.org/snomedct/193473008
property_value: exactMatch DOID:9794
property_value: exactMatch http://identifiers.org/snomedct/74469006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154893

[Term]
id: MONDO:0004884
name: eye degenerative disease
def: "A neurodegenerative disease that involves the eye." [MONDO:patterns/location]
synonym: "degenerative disorder of eye" EXACT []
synonym: "degenerative disorder of globe" RELATED []
synonym: "eye neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye neurodegenerative disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "neurodegenerative disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
xref: DOID:9799 {source="MONDO:equivalentTo"}
xref: ICD10:H44.30 {source="DOID:9799"}
xref: ICD10:H44.5 {source="DOID:9799", source="MONDO:equivalentTo"}
xref: ICD9:360.2 {source="DOID:9799"}
xref: ICD9:360.20 {source="DOID:9799", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:360.29 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:360.4 {source="DOID:9799"}
xref: ICD9:360.40 {source="DOID:9799"}
xref: SCTID:62585004 {source="DOID:9799", source="MONDO:equivalentTo"}
xref: UMLS:C0154777 {source="DOID:9799", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="DOID:9799", source="MONDO:Redundant", source="linkedlifedata"} ! eye disease
is_a: MONDO:0005559 {source="DOID:9799", source="MONDO:Redundant", source="MONDOLEX:0004884"} ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193275003
property_value: closeMatch http://identifiers.org/snomedct/193279009
property_value: closeMatch http://identifiers.org/snomedct/193285002
property_value: closeMatch http://identifiers.org/snomedct/193292007
property_value: exactMatch DOID:9799
property_value: exactMatch http://identifiers.org/snomedct/62585004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154777

[Term]
id: MONDO:0004885
name: choroidal sclerosis
def: "A neurodegenerative disease that involves the optic choroid." [MONDO:patterns/location]
synonym: "choroidal degenerations" EXACT [DOID:980, ICD9CM_2006:363.4]
synonym: "neurodegenerative disease of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid neurodegenerative disease" EXACT [MONDO:patterns/location]
xref: DOID:980 {source="MONDO:equivalentTo"}
xref: ICD10:H31.1 {source="DOID:980"}
xref: ICD10:H31.10 {source="DOID:980"}
xref: ICD9:363.4 {source="DOID:980"}
xref: ICD9:363.40 {source="MONDO:equivalentTo", source="i2s", source="DOID:980"}
xref: MESH:C535358 {source="MONDO:equivalentTo", source="DOID:980"}
xref: SCTID:406446000 {source="MONDO:equivalentTo", source="DOID:980"}
is_a: MONDO:0001898 {source="MESH:C535358", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! optic choroid disease
is_a: MONDO:0004884 {source="DOID:980", source="MONDO:Redundant", source="linkedlifedata"} ! eye degenerative disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/193461008
property_value: closeMatch http://identifiers.org/snomedct/193464000
property_value: closeMatch http://identifiers.org/snomedct/247199007
property_value: closeMatch http://identifiers.org/snomedct/267617003
property_value: closeMatch http://identifiers.org/snomedct/47638000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344297
property_value: exactMatch DOID:980
property_value: exactMatch http://identifiers.org/mesh/C535358
property_value: exactMatch http://identifiers.org/snomedct/406446000

[Term]
id: MONDO:0004886
name: diffuse secondary choroid atrophy
xref: DOID:981 {source="MONDO:equivalentTo"}
xref: ICD10:H31.12 {source="DOID:981"}
xref: ICD9:363.42 {source="MONDO:equivalentTo", source="i2s", source="DOID:981"}
xref: SCTID:193463006 {source="MONDO:equivalentTo", source="DOID:981", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154892 {source="MONDO:equivalentTo", source="DOID:981"}
is_a: MONDO:0004885 {source="DOID:981", source="linkedlifedata"} ! choroidal sclerosis
property_value: closeMatch http://identifiers.org/snomedct/1843008
property_value: exactMatch DOID:981
property_value: exactMatch http://identifiers.org/snomedct/193463006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154892

[Term]
id: MONDO:0004887
name: obsolete polyarteritis nodosa
is_obsolete: true
replaced_by: MONDO:0019170

[Term]
id: MONDO:0004888
name: partial circumpapillary choroid dystrophy
xref: DOID:9811 {source="MONDO:equivalentTo"}
xref: ICD9:363.51 {source="DOID:9811", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193466003 {source="DOID:9811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154895 {source="DOID:9811", source="MONDO:equivalentTo"}
is_a: MONDO:0004883 {source="DOID:9811", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary choroidal atrophy
property_value: closeMatch http://identifiers.org/snomedct/42175004
property_value: exactMatch DOID:9811
property_value: exactMatch http://identifiers.org/snomedct/193466003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154895

[Term]
id: MONDO:0004889
name: total central choroidal atrophy
synonym: "central gyrate choroidal dystrophy" RELATED []
synonym: "choroidal dystrophy, serpiginous" EXACT [DOID:9820, MTHICD9_2006:363.54]
synonym: "helicoid choroid dystrophy" RELATED []
synonym: "total central choroid atrophy" RELATED []
synonym: "total central choroidal atrophy" EXACT []
synonym: "total central dystrophy of choroid" RELATED []
xref: DOID:9820 {source="MONDO:equivalentTo"}
xref: ICD9:363.54 {source="DOID:9820", source="MONDO:relatedTo"}
xref: SCTID:392049002 {source="DOID:9820", source="MONDO:kboom-pr-0.77/0.41/0.68", source="MONDO:equivalentTo"}
xref: UMLS:C0154898 {source="DOID:9820", source="MONDO:equivalentTo"}
is_a: MONDO:0008982 {source="linkedlifedata"} ! central areolar choroidal dystrophy
is_a: MONDO:0010557 {source="linkedlifedata"} ! choroideremia
relationship: excluded_subClassOf MONDO:0004890 {source="DOID:9820"} ! partial central choroid dystrophy
property_value: closeMatch http://identifiers.org/snomedct/12778004
property_value: closeMatch http://identifiers.org/snomedct/193469005
property_value: exactMatch DOID:9820
property_value: exactMatch http://identifiers.org/snomedct/392049002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154898

[Term]
id: MONDO:0004890
name: partial central choroid dystrophy
synonym: "choroidal dystrophy, central areolar" EXACT [DOID:9822]
synonym: "circinate choroidal dystrophy" RELATED []
synonym: "partial central choroid dystrophy" EXACT []
synonym: "partial central dystrophy of choroid" RELATED []
xref: DOID:9822 {source="MONDO:equivalentTo"}
xref: ICD9:363.53 {source="DOID:9822", source="MONDO:equivalentTo", source="i2s", source="linkedlifedata"}
xref: SCTID:193468002 {source="DOID:9822", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339427 {source="DOID:9822", source="MONDO:equivalentTo"}
is_a: MONDO:0008982 {source="linkedlifedata"} ! central areolar choroidal dystrophy
relationship: excluded_subClassOf MONDO:0004883 {source="DOID:9822"} ! hereditary choroidal atrophy
property_value: closeMatch http://identifiers.org/snomedct/80526002
property_value: exactMatch DOID:9822
property_value: exactMatch http://identifiers.org/snomedct/193468002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339427

[Term]
id: MONDO:0004891
name: hyperopia
def: "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" [MESH:D006956]
synonym: "Far-sightedness" EXACT [DOID:9834, MTHICD9_2006:367.0]
synonym: "hypermetropia" EXACT [DOID:9834, ICD9CM_2006:367.0]
xref: COHD:376415 {source="MONDO:equivalentTo"}
xref: DOID:9834 {source="MONDO:equivalentTo"}
xref: ICD10:H52.0 {source="DOID:9834", source="MONDO:equivalentTo"}
xref: ICD9:367.0 {source="DOID:9834", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006956 {source="DOID:9834", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:38101003 {source="DOID:9834", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0020490 {source="DOID:9834", source="MONDO:equivalentTo"}
is_a: MONDO:0004892 {source="DOID:9834", source="MESH:D006956", source="linkedlifedata"} ! refractive error
property_value: closeMatch http://identifiers.org/snomedct/155132008
property_value: exactMatch DOID:9834
property_value: exactMatch http://identifiers.org/mesh/D006956
property_value: exactMatch http://identifiers.org/snomedct/38101003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020490

[Term]
id: MONDO:0004892
name: refractive error
def: "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." [NCIT:P378]
xref: DOID:9835 {source="MONDO:equivalentTo"}
xref: ICD10:H52.7 {source="DOID:9835"}
xref: MESH:D012030 {source="DOID:9835", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:39021009 {source="DOID:9835", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.04"}
is_a: MONDO:0005328 {source="DOID:9835", source="MESH:D012030"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/21324001
property_value: closeMatch http://identifiers.org/snomedct/267723000
property_value: closeMatch http://identifiers.org/snomedct/314027003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034951
property_value: exactMatch DOID:9835
property_value: exactMatch http://identifiers.org/mesh/D012030
property_value: exactMatch http://identifiers.org/snomedct/39021009
property_value: exactMatch NCIT:C87145

[Term]
id: MONDO:0004893
name: hypertropia
def: "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." [NCIT:P378]
xref: COHD:375275 {source="MONDO:equivalentTo"}
xref: DOID:9837 {source="MONDO:equivalentTo"}
xref: ICD10:H50.2 {source="DOID:9837"}
xref: ICD9:378.31 {source="MONDO:equivalentTo", source="DOID:9837", source="i2s"}
xref: NCIT:C34716 {source="MONDO:equivalentTo", source="DOID:9837", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:40608009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9837"}
xref: UMLS:C0020575 {source="NCIT:C34716", source="MONDO:equivalentTo", source="DOID:9837"}
is_a: MONDO:0003432 {source="DOID:9837", source="NCIT:C34716", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: closeMatch http://identifiers.org/mesh/D013285
property_value: closeMatch http://identifiers.org/snomedct/194109005
property_value: exactMatch DOID:9837
property_value: exactMatch http://identifiers.org/snomedct/40608009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020575
property_value: exactMatch NCIT:C34716

[Term]
id: MONDO:0004894
name: cyclotropia
xref: COHD:372647 {source="MONDO:equivalentTo"}
xref: DOID:9838 {source="MONDO:equivalentTo"}
xref: ICD10:H50.41 {source="DOID:9838"}
xref: ICD9:378.33 {source="DOID:9838", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:70486007 {source="DOID:9838", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152209 {source="DOID:9838", source="MONDO:equivalentTo"}
is_a: MONDO:0003432 {source="DOID:9838", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: exactMatch DOID:9838
property_value: exactMatch http://identifiers.org/snomedct/70486007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152209

[Term]
id: MONDO:0004895
name: accommodative esotropia
xref: COHD:381027 {source="MONDO:equivalentTo"}
xref: DOID:9839 {source="MONDO:equivalentTo"}
xref: ICD10:H50.43 {source="DOID:9839"}
xref: ICD9:378.35 {source="DOID:9839"}
xref: SCTID:419494007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9839"}
xref: UMLS:C0155336 {source="MONDO:equivalentTo", source="DOID:9839"}
is_a: MONDO:0004896 {source="DOID:9839", source="MONDOLEX:0004895", source="linkedlifedata"} ! esotropia
property_value: closeMatch http://identifiers.org/snomedct/18369000
property_value: closeMatch http://identifiers.org/snomedct/194112008
property_value: exactMatch DOID:9839
property_value: exactMatch http://identifiers.org/snomedct/419494007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155336

[Term]
id: MONDO:0004896
name: esotropia
def: "A form of strabismus in which one or both eyes are deviated medially." [NCIT:P378]
subset: gard_rare {source="GARD:0008235"}
synonym: "convergence in manifest squint" EXACT [DOID:9840]
synonym: "crossed eyes" EXACT [CSP2005:1115-2310, DOID:9840]
synonym: "internal strabismus" EXACT [DOID:9840, NCIT:C34596]
xref: COHD:377877 {source="MONDO:equivalentTo"}
xref: DOID:9840 {source="MONDO:equivalentTo"}
xref: GARD:0008235 {source="MONDO:equivalentTo"}
xref: ICD10:H50.0 {source="DOID:9840"}
xref: ICD10:H50.00 {source="DOID:9840"}
xref: ICD9:378.0 {source="DOID:9840"}
xref: ICD9:378.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:9840"}
xref: MESH:D004948 {source="MONDO:equivalentTo", source="DOID:9840"}
xref: NCIT:C34596 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9840"}
xref: SCTID:16596007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9840"}
xref: UMLS:C0014877 {source="MONDO:equivalentTo", source="NCIT:C34596", source="DOID:9840"}
is_a: MONDO:0003432 {source="DOID:9840", source="NCIT:C34596", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/155193001
property_value: closeMatch http://identifiers.org/snomedct/194074002
property_value: closeMatch http://identifiers.org/snomedct/194085000
property_value: exactMatch DOID:9840
property_value: exactMatch http://identifiers.org/mesh/D004948
property_value: exactMatch http://identifiers.org/snomedct/16596007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014877
property_value: exactMatch NCIT:C34596
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8235/esotropia xsd:anyURI {source="GARD:0008235"}

[Term]
id: MONDO:0004897
name: hypotropia
def: "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." [NCIT:P378]
synonym: "downward ocular deviation" EXACT [NCIT:C42086]
synonym: "hypotropia" EXACT [NCIT:C42086]
synonym: "sunset sign" EXACT [NCIT:C42086]
xref: COHD:379029 {source="MONDO:equivalentTo"}
xref: DOID:9841 {source="MONDO:equivalentTo"}
xref: ICD9:378.32 {source="MONDO:equivalentTo", source="i2s", source="DOID:9841"}
xref: NCIT:C42086 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9841"}
xref: SCTID:29491004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9841"}
xref: UMLS:C0152208 {source="MONDO:equivalentTo", source="NCIT:C42086", source="DOID:9841"}
is_a: MONDO:0003432 {source="DOID:9841", source="NCIT:C42086", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus
property_value: exactMatch DOID:9841
property_value: exactMatch http://identifiers.org/snomedct/29491004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152208
property_value: exactMatch NCIT:C42086

[Term]
id: MONDO:0004898
name: total circumpapillary dystrophy of choroid
synonym: "circumpapillary dystrophy of choroid, total" EXACT [DOID:9842, ICD9CM_2006:363.52]
xref: DOID:9842 {source="MONDO:equivalentTo"}
xref: ICD9:363.52 {source="DOID:9842", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:59753003 {source="DOID:9842", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154896 {source="DOID:9842", source="MONDO:equivalentTo"}
is_a: MONDO:0004883 {source="DOID:9842", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary choroidal atrophy
property_value: exactMatch DOID:9842
property_value: exactMatch http://identifiers.org/snomedct/59753003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154896

[Term]
id: MONDO:0004899
name: monofixation syndrome
xref: DOID:9843 {source="MONDO:equivalentTo"}
xref: ICD10:H50.42 {source="DOID:9843", source="MONDO:equivalentTo"}
xref: ICD9:378.34 {source="DOID:9843", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:14785004 {source="DOID:9843", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0339611 {source="DOID:9843", source="MONDO:equivalentTo"}
is_a: MONDO:0003432 {source="DOID:9843"} ! strabismus
property_value: closeMatch http://identifiers.org/snomedct/194111001
property_value: exactMatch DOID:9843
property_value: exactMatch http://identifiers.org/snomedct/14785004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339611

[Term]
id: MONDO:0004900
name: peripheral vertigo
xref: COHD:78162 {source="MONDO:equivalentTo"}
xref: DOID:9847 {source="MONDO:equivalentTo"}
xref: ICD10:H81.3 {source="DOID:9847"}
xref: ICD10:H81.39 {source="DOID:9847"}
xref: ICD10:H81.399 {source="DOID:9847"}
xref: ICD9:386.1 {source="DOID:9847"}
xref: ICD9:386.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:386.19 {source="MONDO:relatedTo", source="DOID:9847", source="i2s"}
xref: SCTID:50438001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0155501 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002643 {source="DOID:9847"} ! vestibular disease
property_value: closeMatch http://identifiers.org/snomedct/194353007
property_value: closeMatch http://identifiers.org/snomedct/194359006
property_value: closeMatch http://identifiers.org/snomedct/194692006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029706
property_value: exactMatch DOID:9847
property_value: exactMatch http://identifiers.org/snomedct/50438001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155501

[Term]
id: MONDO:0004901
name: lingual-facial-buccal dyskinesia
def: "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." [MESH:D009069]
synonym: "oro-facial dyskinesia" EXACT [DOID:9854]
xref: DOID:9854 {source="MONDO:equivalentTo"}
xref: ICD10:G24.4 {source="DOID:9854"}
xref: ICD9:333.82 {source="DOID:9854"}
xref: SCTID:49386006 {source="DOID:9854", source="MONDO:equivalentTo"}
xref: UMLS:C0152115 {source="DOID:9854", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="DOID:9854", source="linkedlifedata/inferred"} ! movement disorder
property_value: closeMatch http://identifiers.org/snomedct/155007009
property_value: closeMatch http://identifiers.org/snomedct/192861006
property_value: closeMatch http://identifiers.org/snomedct/267689009
property_value: exactMatch DOID:9854
property_value: exactMatch http://identifiers.org/snomedct/49386006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152115

[Term]
id: MONDO:0004902
name: interstitial keratitis
xref: COHD:439808 {source="MONDO:equivalentTo"}
xref: DOID:9857 {source="MONDO:equivalentTo"}
xref: ICD10:H16.30 {source="DOID:9857"}
xref: ICD9:370.50 {source="DOID:9857"}
xref: UMLS:C0155088 {source="DOID:9857", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 {source="DOID:9857"} ! connective tissue disease
is_a: MONDO:0004903 {source="DOID:9857"} ! deep keratitis
property_value: closeMatch http://identifiers.org/snomedct/1763009
property_value: closeMatch http://identifiers.org/snomedct/193784002
property_value: exactMatch DOID:9857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155088

[Term]
id: MONDO:0004903
name: deep keratitis
xref: DOID:9858 {source="MONDO:equivalentTo"}
xref: ICD10:H16.3 {source="DOID:9858"}
xref: ICD9:370.5 {source="DOID:9858"}
xref: ICD9:370.59 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:445741003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2960633 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003085 {source="DOID:9858", source="linkedlifedata"} ! keratitis
property_value: closeMatch http://identifiers.org/snomedct/193783008
property_value: closeMatch http://identifiers.org/snomedct/193788004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155087
property_value: exactMatch DOID:9858
property_value: exactMatch http://identifiers.org/snomedct/445741003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960633

[Term]
id: MONDO:0004904
name: toxic maculopathy
synonym: "toxic maculopathy of retina" EXACT [DOID:9867, ICD9CM_2006:362.55]
xref: COHD:377848 {source="MONDO:equivalentTo"}
xref: DOID:9867 {source="MONDO:equivalentTo"}
xref: ICD10:H35.38 {source="DOID:9867"}
xref: ICD9:362.55 {source="DOID:9867", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:44115007 {source="DOID:9867", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271086 {source="DOID:9867", source="MONDO:equivalentTo"}
is_a: MONDO:0002175 {source="DOID:9867"} ! degeneration of macula and posterior pole
property_value: closeMatch http://identifiers.org/snomedct/193389005
property_value: exactMatch DOID:9867
property_value: exactMatch http://identifiers.org/snomedct/44115007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271086

[Term]
id: MONDO:0004905
name: intestinal disaccharidase deficiency
alt_id: MONDO:0006062
def: "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." [EFO:1000060]
synonym: "intestinal disaccharidase deficiency and disaccharide malabsorption" EXACT [NCIT:C34731]
synonym: "intestinal disaccharide deficiency and disaccharide malabsorption" RELATED []
xref: COHD:192286 {source="MONDO:equivalentTo"}
xref: DOID:9868 {source="MONDO:equivalentTo"}
xref: EFO:1000060 {source="MONDO:equivalentTo"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="DOID:9868", source="i2s"}
xref: NCIT:C34731 {source="DOID:9868", source="MONDO:equivalentTo"}
xref: SCTID:22169002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015188 {source="MONDO:Redundant"} ! metabolic disease with intestinal involvement
is_a: MONDO:0020598 {source="NCIT:C34731"} ! malabsorption syndrome
is_a: MONDO:0037792 ! carbohydrate metabolism disease
relationship: excluded_subClassOf MONDO:0019214 {source="DOID:9868"} ! inborn carbohydrate metabolic disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021830
property_value: exactMatch DOID:9868
property_value: exactMatch http://identifiers.org/snomedct/22169002
property_value: exactMatch NCIT:C34731

[Term]
id: MONDO:0004906
name: obsolete hereditary fructose intolerance syndrome
is_obsolete: true
replaced_by: MONDO:0009249

[Term]
id: MONDO:0004907
name: alopecia
def: "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." [NCIT:C50575]
subset: ordo_group_of_disorders {source="Orphanet:79364"}
synonym: "alopecia" EXACT [MONDO:0019279]
synonym: "alopecia areata" EXACT [NCIT:C50575]
synonym: "hair loss" EXACT [NCIT:C50575]
synonym: "loss Of hair" EXACT [NCIT:C50575]
xref: COHD:133280 {source="MONDO:equivalentTo"}
xref: DOID:987 {source="MONDO:equivalentTo"}
xref: ICD10:L65.9 {source="DOID:987"}
xref: ICD9:704.0 {source="DOID:987"}
xref: ICD9:704.00 {source="DOID:987", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000505 {source="DOID:987", source="MONDO:equivalentTo"}
xref: NCIT:C50575 {source="DOID:987", source="MONDO:equivalentTo"}
xref: Orphanet:79364 {source="MONDO:equivalentTo"}
xref: SCTID:56317004 {source="DOID:987", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0002170 {source="DOID:987", source="MONDO:equivalentTo", source="Orphanet:79364", source="NCIT:C50575"}
is_a: MONDO:0003037 {source="DOID:987", source="MESH:D000505"} ! hypotrichosis
is_a: MONDO:0019278 {source="Orphanet:79364"} ! hair anomaly
property_value: closeMatch http://identifiers.org/snomedct/156408004
property_value: closeMatch http://identifiers.org/snomedct/201129005
property_value: closeMatch http://identifiers.org/snomedct/201130000
property_value: closeMatch http://identifiers.org/snomedct/201157003
property_value: closeMatch http://identifiers.org/snomedct/267810004
property_value: closeMatch http://identifiers.org/snomedct/270504008
property_value: closeMatch http://identifiers.org/snomedct/278040002
property_value: exactMatch DOID:987
property_value: exactMatch http://identifiers.org/mesh/D000505
property_value: exactMatch http://identifiers.org/snomedct/56317004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002170
property_value: exactMatch NCIT:C50575
property_value: exactMatch Orphanet:79364

[Term]
id: MONDO:0004908
name: obsolete galactosemia
is_obsolete: true
replaced_by: MONDO:0018116

[Term]
id: MONDO:0004909
name: urethral gland abscess
xref: DOID:9877 {source="MONDO:equivalentTo"}
xref: ICD10:N34.0 {source="DOID:9877"}
xref: ICD9:597.0 {source="DOID:9877"}
xref: SCTID:444820005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0004184 {source="DOID:9877", source="linkedlifedata", source="linkedlifedata/inferred"} ! urethral disease
property_value: closeMatch http://identifiers.org/snomedct/197899005
property_value: closeMatch http://identifiers.org/snomedct/197900000
property_value: closeMatch http://identifiers.org/snomedct/197901001
property_value: closeMatch http://identifiers.org/snomedct/197902008
property_value: closeMatch http://identifiers.org/snomedct/67277002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156278
property_value: exactMatch DOID:9877
property_value: exactMatch http://identifiers.org/snomedct/444820005

[Term]
id: MONDO:0004910
name: mitral valve prolapse (disease)
def: "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." [NCIT:P378]
synonym: "barlow's syndrome" EXACT [DOID:988, MTH:097]
synonym: "floppy mitral valve" EXACT [DOID:988]
synonym: "mitral leaflet syndrome" RELATED [DOID:988]
synonym: "mitral valve prolapse" EXACT [MONDO:ambiguous]
synonym: "mitral valve prolapse syndrome" EXACT [NCIT:C50655]
synonym: "mitral valve prolapse, myxomatous" RELATED [OMIMPS:157700]
synonym: "myxomatous mitral valve prolapse" RELATED [DOID:988]
synonym: "prolapse, mitral valve" EXACT [NCIT:C50655]
synonym: "systolic click-murmur syndrome" RELATED [DOID:988]
synonym: "valve, prolapse Of mitral" EXACT [NCIT:C50655]
xref: COHD:4252872 {source="MONDO:equivalentTo"}
xref: DOID:988 {source="MONDO:equivalentTo"}
xref: HP:0001634 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C50655 {source="MONDO:kboom-pr-0.89/0.75/0.23", source="DOID:988", source="MONDO:equivalentTo"}
xref: OMIMPS:157700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:409712001 {source="MONDO:kboom-pr-0.88/0.75/0.14", source="DOID:988", source="MONDO:equivalentTo"}
is_a: MONDO:0003767 {source="DOID:988", source="NCIT:C50655", source="linkedlifedata"} ! mitral valve disease
property_value: closeMatch http://identifiers.org/mesh/D008945
property_value: closeMatch http://identifiers.org/snomedct/155386005
property_value: closeMatch http://identifiers.org/snomedct/194977007
property_value: closeMatch http://identifiers.org/snomedct/194980008
property_value: closeMatch http://identifiers.org/snomedct/42069006
property_value: closeMatch http://identifiers.org/snomedct/45023003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026267
property_value: exactMatch DOID:988
property_value: exactMatch http://identifiers.org/snomedct/409712001
property_value: exactMatch NCIT:C50655

[Term]
id: MONDO:0004911
name: cardiovascular syphilis
def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." [DOID:9880, http://emedicine.medscape.com/article/229461-overview#a0104, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
xref: DOID:9880 {source="MONDO:equivalentTo"}
xref: ICD9:093.8 {source="DOID:9880"}
xref: ICD9:093.89 {source="MONDO:relatedTo", source="i2s", source="DOID:9880"}
xref: ICD9:093.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:83883001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0039130 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004497 {source="DOID:9880", source="linkedlifedata"} ! tertiary syphilis
property_value: closeMatch http://identifiers.org/snomedct/111823001
property_value: closeMatch http://identifiers.org/snomedct/186880008
property_value: closeMatch http://identifiers.org/snomedct/186882000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029751
property_value: exactMatch DOID:9880
property_value: exactMatch http://identifiers.org/snomedct/83883001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039130

[Term]
id: MONDO:0004912
name: obsolete muscular dystrophy
is_obsolete: true
replaced_by: MONDO:0020121

[Term]
id: MONDO:0004913
name: alternating esotropia
xref: COHD:381031 {source="MONDO:equivalentTo"}
xref: DOID:9888 {source="MONDO:equivalentTo"}
xref: ICD10:H50.05 {source="DOID:9888", source="MONDO:equivalentTo"}
xref: ICD9:378.05 {source="DOID:9888", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:39837002 {source="DOID:9888", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152205 {source="DOID:9888", source="MONDO:equivalentTo"}
is_a: MONDO:0004896 {source="DOID:9888", source="MONDOLEX:0004913", source="linkedlifedata"} ! esotropia
property_value: closeMatch http://identifiers.org/snomedct/194080005
property_value: exactMatch DOID:9888
property_value: exactMatch http://identifiers.org/snomedct/39837002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152205

[Term]
id: MONDO:0004914
name: median arcuate ligament syndrome
def: "A syndromic disease that involves the median arcuate ligament." [MONDO:patterns/location]
synonym: "celiac access syndrome" RELATED [GARD:0012308]
synonym: "celiac artery compression syndrome" EXACT [DOID:9892, ICD9CM_2006:447.4]
synonym: "Harjola-Marable syndrome" EXACT [DOID:9892]
synonym: "Marable's syndrome" EXACT [DOID:9892]
synonym: "median arcuate ligament syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of median arcuate ligament" EXACT [MONDO:design_pattern]
xref: COHD:194393 {source="MONDO:equivalentTo"}
xref: DOID:9892 {source="MONDO:equivalentTo"}
xref: GARD:0012308 {source="MONDO:equivalentTo"}
xref: ICD10:I77.4 {source="DOID:9892"}
xref: ICD9:447.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:9892"}
xref: SCTID:9250002 {source="MONDO:equivalentTo", source="DOID:9892", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000473 {source="DOID:9892", source="linkedlifedata/inferred"} ! arterial disorder
is_a: MONDO:0002254 {source="DOID:9892", source="MONDO:Redundant", source="MONDOLEX:0004914"} ! syndromic disease
is_a: MONDO:0005728 ! diaphragm disease
is_a: MONDO:0043218 ! neurovascular disease
is_a: MONDO:0045044 ! ligament disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152098
property_value: exactMatch DOID:9892
property_value: exactMatch http://identifiers.org/snomedct/9250002

[Term]
id: MONDO:0004917
name: internal hordeolum
def: "A hordeolum that results from infection of a meibomian gland." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "hordeolum internum" RELATED []
synonym: "hordeolum of tarsal gland" EXACT [MONDO:design_pattern]
synonym: "infected chalazion" RELATED []
synonym: "infected cyst of meibomian gland" RELATED []
synonym: "infected meibomian cyst" RELATED []
synonym: "infection of meibomian gland" RELATED []
synonym: "internal hordeolum" EXACT []
synonym: "meibomian adenitis" RELATED []
synonym: "tarsal gland hordeolum" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:377560 {source="MONDO:equivalentTo"}
xref: DOID:9908 {source="MONDO:equivalentTo"}
xref: ICD10:H00.02 {source="DOID:9908"}
xref: ICD9:373.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:9908"}
xref: SCTID:414521009 {source="MONDO:equivalentTo", source="DOID:9908", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085690 {source="MONDO:equivalentTo", source="DOID:9908"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005800 {source="DOID:9908", source="MONDO:Redundant", source="MONDOLEX:0004917", source="linkedlifedata"} ! hordeolum
is_a: MONDO:0006607 ! sebaceous gland disease
property_value: closeMatch http://identifiers.org/snomedct/15750009
property_value: closeMatch http://identifiers.org/snomedct/397514009
property_value: closeMatch http://identifiers.org/snomedct/95752007
property_value: exactMatch DOID:9908
property_value: exactMatch http://identifiers.org/snomedct/414521009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085690

[Term]
id: MONDO:0004918
name: central corneal ulcer
xref: COHD:380402 {source="MONDO:equivalentTo"}
xref: DOID:9910 {source="MONDO:equivalentTo"}
xref: ICD10:H16.01 {source="DOID:9910"}
xref: ICD9:370.03 {source="DOID:9910", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:7426009 {source="DOID:9910", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155069 {source="DOID:9910", source="MONDO:equivalentTo"}
is_a: MONDO:0004577 {source="DOID:9910", source="linkedlifedata"} ! corneal ulcer
property_value: closeMatch http://identifiers.org/snomedct/193761009
property_value: exactMatch DOID:9910
property_value: exactMatch http://identifiers.org/snomedct/7426009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155069

[Term]
id: MONDO:0004919
name: infected hydrocele
xref: COHD:74998 {source="MONDO:equivalentTo"}
xref: DOID:9911 {source="MONDO:equivalentTo"}
xref: ICD10:N43.1 {source="DOID:9911", source="MONDO:equivalentTo"}
xref: ICD9:603.1 {source="DOID:9911", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:11666007 {source="DOID:9911", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0156300 {source="DOID:9911", source="MONDO:equivalentTo"}
is_a: MONDO:0004920 {source="DOID:9911", source="linkedlifedata"} ! hydrocele
property_value: exactMatch DOID:9911
property_value: exactMatch http://identifiers.org/snomedct/11666007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156300

[Term]
id: MONDO:0004920
name: hydrocele
xref: COHD:76737 {source="MONDO:equivalentTo"}
xref: DOID:9912 {source="MONDO:equivalentTo"}
xref: ICD9:603.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:603.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:55434001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0003150 {source="DOID:9912", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: exactMatch DOID:9912
property_value: exactMatch http://identifiers.org/snomedct/55434001

[Term]
id: MONDO:0004921
name: obsolete Omsk hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017882

[Term]
id: MONDO:0004922
name: developmental coordination disorder
def: "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." [NCIT:P378]
synonym: "clumsy child syndrome" EXACT [NCIT:C92561]
synonym: "development coordination disorder" EXACT [NCIT:C92561]
synonym: "developmental dyspraxia" EXACT [NCIT:C92561]
xref: COHD:440388 {source="MONDO:equivalentTo"}
xref: DOID:9923 {source="MONDO:equivalentTo"}
xref: ICD10:F82 {source="DOID:9923"}
xref: ICD9:315.4 {source="DOID:9923", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D019957 {source="DOID:9923", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92561 {source="DOID:9923", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:27544004 {source="DOID:9923", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C0520947 {source="MONDO:equivalentTo"}
is_a: MONDO:0000592 {source="DOID:9923"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/192578006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011757
property_value: exactMatch DOID:9923
property_value: exactMatch http://identifiers.org/mesh/D019957
property_value: exactMatch http://identifiers.org/snomedct/27544004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520947
property_value: exactMatch NCIT:C92561

[Term]
id: MONDO:0004923
name: chronic inflammation of lacrimal passage
xref: DOID:9935 {source="MONDO:equivalentTo"}
xref: ICD10:H04.4 {source="DOID:9935"}
xref: ICD9:375.4 {source="DOID:9935"}
xref: SCTID:267653001 {source="DOID:9935", source="MONDO:equivalentTo"}
xref: UMLS:C0155239 {source="DOID:9935", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0001854 {source="DOID:9935", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! lacrimal apparatus disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/193990009
property_value: closeMatch http://identifiers.org/snomedct/193991008
property_value: exactMatch DOID:9935
property_value: exactMatch http://identifiers.org/snomedct/267653001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155239

[Term]
id: MONDO:0004924
name: chronic canaliculitis
def: "Chronic form of actinomycosis." [MONDO:patterns/chronic]
synonym: "actinomycosis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic actinomycosis" EXACT [MONDO:design_pattern]
xref: DOID:9936 {source="MONDO:equivalentTo"}
xref: ICD10:H04.42 {source="DOID:9936"}
xref: ICD9:375.41 {source="MONDO:equivalentTo", source="DOID:9936", source="i2s"}
xref: SCTID:26479009 {source="MONDO:equivalentTo", source="DOID:9936", source="MONDO:kboom-pr-1.00/0.78/7.04"}
xref: UMLS:C0155240 {source="MONDO:equivalentTo", source="DOID:9936"}
is_a: MONDO:0004923 {source="DOID:9936", source="linkedlifedata"} ! chronic inflammation of lacrimal passage
is_a: MONDO:0005631 ! actinomycosis
is_a: MONDO:0043885 ! eye infectious disease
property_value: exactMatch DOID:9936
property_value: exactMatch http://identifiers.org/snomedct/26479009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155240

[Term]
id: MONDO:0004925
name: chronic dacryocystitis
def: "Chronic form of dacryocystitis." [MONDO:patterns/chronic]
synonym: "dacryocystitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:438760 {source="MONDO:equivalentTo"}
xref: DOID:9937 {source="MONDO:equivalentTo"}
xref: ICD10:H04.41 {source="DOID:9937"}
xref: ICD9:375.42 {source="DOID:9937", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:84627005 {source="DOID:9937", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0149506 {source="DOID:9937", source="MONDO:equivalentTo"}
is_a: MONDO:0004923 {source="DOID:9937", source="MONDO:Redundant"} ! chronic inflammation of lacrimal passage
is_a: MONDO:0004926 {source="DOID:9937", source="MONDO:Redundant", source="linkedlifedata"} ! dacryocystitis
property_value: closeMatch http://identifiers.org/snomedct/193990009
property_value: exactMatch DOID:9937
property_value: exactMatch http://identifiers.org/snomedct/84627005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149506

[Term]
id: MONDO:0004926
name: dacryocystitis
def: "Inflammation of the lacrimal sac." [NCIT:P378]
synonym: "Dacryoadenitides" EXACT [MESH:D003607]
synonym: "dacryoadenitis" EXACT [MESH:D003607]
synonym: "Dacryocystitides" EXACT [MESH:D003607]
synonym: "inflammation of lacrimal sac" EXACT []
synonym: "lacrimal sac inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:439025 {source="MONDO:equivalentTo"}
xref: DOID:9938 {source="MONDO:equivalentTo"}
xref: ICD10:H04.30 {source="DOID:9938"}
xref: ICD9:375.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:9938"}
xref: MESH:D003607 {source="MONDO:equivalentTo", source="DOID:9938"}
xref: NCIT:C34521 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9938"}
xref: SCTID:85777005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.76", source="DOID:9938"}
xref: UMLS:C0010930 {source="MONDO:equivalentTo", source="NCIT:C34521", source="DOID:9938"}
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0044984 ! nasolacrimal duct disease
relationship: excluded_subClassOf MONDO:0004055 {source="DOID:9938"} ! acute inflammation of lacrimal passage
property_value: closeMatch http://identifiers.org/snomedct/155183008
property_value: closeMatch http://identifiers.org/snomedct/193987003
property_value: closeMatch http://identifiers.org/snomedct/193989000
property_value: closeMatch http://identifiers.org/snomedct/267738004
property_value: exactMatch DOID:9938
property_value: exactMatch http://identifiers.org/mesh/D003607
property_value: exactMatch http://identifiers.org/snomedct/85777005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010930
property_value: exactMatch NCIT:C34521

[Term]
id: MONDO:0004927
name: dacryocystocele
def: "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction." [NCIT:P378]
synonym: "lacrimal mucocele" EXACT [DOID:9939, ICD9CM_2006:375.43]
xref: COHD:434951 {source="MONDO:equivalentTo"}
xref: DOID:9939 {source="MONDO:equivalentTo"}
xref: ICD9:375.43 {source="DOID:9939"}
is_a: MONDO:0004923 {source="DOID:9939"} ! chronic inflammation of lacrimal passage
property_value: closeMatch http://identifiers.org/snomedct/42758002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155241
property_value: exactMatch DOID:9939
property_value: exactMatch NCIT:C98968

[Term]
id: MONDO:0004928
name: lymph node disease
def: "Any disorder of the lymph nodes." [NCIT:C35346]
synonym: "disease of lymph node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lymph node" EXACT []
synonym: "disorder of lymph node" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lymph node" RELATED [MONDO:patterns/location_top]
synonym: "lymph node disease" EXACT [MONDO:patterns/location]
synonym: "lymph node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymph node disorder" EXACT [NCIT:C35346]
xref: DOID:9942 {source="MONDO:equivalentTo"}
xref: NCIT:C35346 {source="DOID:9942", source="MONDO:equivalentTo"}
xref: SCTID:76616003 {source="DOID:9942", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:C0272394 {source="DOID:9942", source="MONDO:equivalentTo", source="NCIT:C35346"}
is_a: MONDO:0005833 {source="DOID:9942", source="linkedlifedata"} ! lymphatic system disease
property_value: exactMatch DOID:9942
property_value: exactMatch http://identifiers.org/snomedct/76616003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272394
property_value: exactMatch NCIT:C35346

[Term]
id: MONDO:0004929
name: constant exophthalmos
xref: COHD:434943 {source="MONDO:equivalentTo"}
xref: DOID:9945 {source="MONDO:equivalentTo"}
xref: ICD10:H05.24 {source="DOID:9945"}
xref: ICD9:376.31 {source="DOID:9945", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:89907009 {source="DOID:9945", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155267 {source="DOID:9945", source="MONDO:equivalentTo"}
is_a: MONDO:0004751 {source="DOID:9945"} ! disease of orbital part of eye adnexa
property_value: closeMatch http://identifiers.org/snomedct/194015008
property_value: exactMatch DOID:9945
property_value: exactMatch http://identifiers.org/snomedct/89907009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155267

[Term]
id: MONDO:0004930
name: steroid-induced glaucoma
synonym: "corticosteroid-induced glaucoma" EXACT [DOID:9946, ICD9CM_2006:365.3]
xref: DOID:9946 {source="MONDO:equivalentTo"}
xref: ICD9:365.3 {source="DOID:9946"}
xref: ICD9:365.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:1654001 {source="DOID:9946", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339578 {source="DOID:9946", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:9946", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/193550003
property_value: exactMatch DOID:9946
property_value: exactMatch http://identifiers.org/snomedct/1654001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339578

[Term]
id: MONDO:0004931
name: residual stage corticosteroid-induced glaucoma
xref: DOID:9948 {source="MONDO:equivalentTo"}
xref: ICD9:365.32 {source="DOID:9948", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:193549003 {source="DOID:9948", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0339580 {source="DOID:9948", source="MONDO:equivalentTo"}
is_a: MONDO:0004930 {source="DOID:9948", source="MONDOLEX:0004931", source="linkedlifedata"} ! steroid-induced glaucoma
property_value: closeMatch http://identifiers.org/snomedct/52519003
property_value: exactMatch DOID:9948
property_value: exactMatch http://identifiers.org/snomedct/193549003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339580

[Term]
id: MONDO:0004932
name: null-cell leukemia
synonym: "null cell acute lymphoblastic leukemia" EXACT [DOID:9954]
xref: DOID:9954 {source="MONDO:equivalentTo"}
xref: SCTID:277574007 {source="DOID:9954", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023483 {source="MEDGEN:kboom-pr98-c99", source="DOID:9954", source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="DOID:9954", source="MONDOLEX:0004932", source="linkedlifedata"} ! acute lymphoblastic leukemia (disease)
property_value: exactMatch DOID:9954
property_value: exactMatch http://identifiers.org/snomedct/277574007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023483

[Term]
id: MONDO:0004933
name: hypoplastic left heart syndrome
def: "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." [Orphanet:2248]
comment: prototype_pattern
subset: ordo_morphological_anomaly {source="Orphanet:2248"}
synonym: "HLHS" EXACT [Orphanet:2248]
xref: COHD:440207 {source="MONDO:equivalentTo"}
xref: DOID:9955 {source="MONDO:equivalentTo"}
xref: GARD:0006739 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q23.4 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo"}
xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10021076 {source="ORDO:2248/e"}
xref: MESH:D018636 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo"}
xref: NCIT:C98894 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:241550 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2248 {source="MONDO:equivalentTo", source="OMIM:241550"}
xref: SCTID:62067003 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152101 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo", source="NCIT:C98894"}
is_a: MONDO:0002254 {source="MONDOLEX:0004933", source="NCIT:C98894"} ! syndromic disease
is_a: MONDO:0005453 {source="DOID:9955", source="MESH:D018636"} ! congenital heart disease
is_a: MONDO:0005584 ! congenital left-sided heart lesions
is_a: MONDO:0019820 {source="Orphanet:2248"} ! univentricular cardiopathy
property_value: exactMatch DOID:9955
property_value: exactMatch http://identifiers.org/meddra/10021076
property_value: exactMatch http://identifiers.org/mesh/D018636
property_value: exactMatch http://identifiers.org/snomedct/62067003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152101
property_value: exactMatch NCIT:C98894
property_value: exactMatch Orphanet:2248

[Term]
id: MONDO:0004934
name: periostitis (disease)
def: "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" [MESH:D010522]
synonym: "inflammation of periosteum" EXACT []
synonym: "periosteum" EXACT [NCIT:C13184]
synonym: "periosteum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "periostitis" EXACT [MONDO:ambiguous]
xref: DOID:9957 {source="MONDO:equivalentTo"}
xref: HP:0040165 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D010522 {source="DOID:9957", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C13184 {source="MONDO:equivalentTo"}
xref: SCTID:41910004 {source="DOID:9957", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0031111 {source="DOID:9957", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="MESH:D010522/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: exactMatch DOID:9957
property_value: exactMatch http://identifiers.org/mesh/D010522
property_value: exactMatch http://identifiers.org/snomedct/41910004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031111
property_value: exactMatch NCIT:C13184

[Term]
id: MONDO:0004935
name: acquired carotenemia
comment: Editor note: consider merging into parent. An explicit acquired subclass was created for consistency with DO
synonym: "carotenemia" RELATED [DOID:9969]
synonym: "hypercarotinemia" EXACT [DOID:9969, ICD9CM_2006:278.3]
xref: COHD:433985 {source="MONDO:equivalentTo"}
xref: DOID:9969 {source="MONDO:equivalentTo"}
xref: ICD9:278.3 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:35487009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.67/1.37"}
is_a: MONDO:0006504 {source="DOID:9969", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease
is_a: MONDO:0021162 ! carotenemia
property_value: exactMatch DOID:9969
property_value: exactMatch http://identifiers.org/snomedct/35487009

[Term]
id: MONDO:0004936
name: uterine inversion
def: "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage." [MESH:D019687]
xref: DOID:997 {source="MONDO:equivalentTo"}
xref: EFO:1001446 {source="MONDO:equivalentTo"}
xref: ICD10:N85.5 {source="DOID:997"}
xref: ICD9:665.2 {source="DOID:997"}
xref: MESH:D019687 {source="DOID:997", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:27215002 {source="DOID:997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002654 {source="DOID:997", source="MESH:D019687", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease
property_value: closeMatch http://identifiers.org/snomedct/156232008
property_value: closeMatch http://identifiers.org/snomedct/156233003
property_value: closeMatch http://identifiers.org/snomedct/199968003
property_value: closeMatch http://identifiers.org/snomedct/199971006
property_value: closeMatch http://identifiers.org/snomedct/267347009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162482
property_value: exactMatch DOID:997
property_value: exactMatch http://identifiers.org/mesh/D019687
property_value: exactMatch http://identifiers.org/snomedct/27215002

[Term]
id: MONDO:0004937
name: hypervitaminosis D
synonym: "hypervitaminosis type D" EXACT [DOID:9971, MONDORULE:1]
xref: COHD:435522 {source="MONDO:equivalentTo"}
xref: DOID:9971 {source="MONDO:equivalentTo"}
xref: ICD10:E67.3 {source="MONDO:equivalentTo", source="DOID:9971"}
xref: ICD9:278.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:9971"}
xref: SCTID:27712000 {source="MONDO:equivalentTo", source="DOID:9971", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1442839 {source="MONDO:equivalentTo", source="DOID:9971"}
is_a: MONDO:0003916 {source="DOID:9971", source="linkedlifedata", source="linkedlifedata/inferred"} ! overnutrition
property_value: closeMatch http://identifiers.org/snomedct/190969000
property_value: exactMatch DOID:9971
property_value: exactMatch http://identifiers.org/snomedct/27712000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1442839

[Term]
id: MONDO:0004938
name: substance dependence
def: "The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence." [NCIT:P378]
synonym: "dependence" EXACT [NCIT:C35458]
xref: DOID:9973 {source="MONDO:equivalentTo"}
xref: ICD9:304.60 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35458 {source="MONDO:equivalentTo", source="DOID:9973"}
xref: SCTID:2403008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.36"}
is_a: MONDO:0002494 {source="DOID:9973"} ! substance-related disorder
property_value: closeMatch http://identifiers.org/snomedct/103326000
property_value: closeMatch http://identifiers.org/snomedct/255338002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0439857
property_value: exactMatch DOID:9973
property_value: exactMatch http://identifiers.org/snomedct/2403008
property_value: exactMatch NCIT:C35458

[Term]
id: MONDO:0004939
name: hallucinogen dependence
def: "A drug dependence for a hallucinogenic substance." [NCIT:P378]
xref: DOID:9977 {source="MONDO:equivalentTo"}
xref: ICD10:F16.2 {source="DOID:9977"}
xref: ICD9:304.5 {source="DOID:9977"}
xref: ICD9:304.50 {source="DOID:9977", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34657 {source="DOID:9977", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:38247002 {source="DOID:9977", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005303 {source="DOID:9977", source="NCIT:C34657", source="linkedlifedata"} ! drug dependence
property_value: closeMatch http://identifiers.org/snomedct/191847003
property_value: closeMatch http://identifiers.org/snomedct/191848008
property_value: closeMatch http://identifiers.org/snomedct/191852008
property_value: closeMatch http://identifiers.org/snomedct/268643000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018528
property_value: exactMatch DOID:9977
property_value: exactMatch http://identifiers.org/snomedct/38247002
property_value: exactMatch NCIT:C34657

[Term]
id: MONDO:0004940
name: acute female pelvic peritonitis
xref: COHD:199885 {source="MONDO:equivalentTo"}
xref: DOID:9978 {source="MONDO:equivalentTo"}
xref: ICD10:N73.3 {source="DOID:9978", source="MONDO:equivalentTo"}
xref: ICD9:614.5 {source="DOID:9978", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:85051008 {source="DOID:9978", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0269032 {source="DOID:9978", source="MONDO:equivalentTo"}
is_a: MONDO:0000922 {source="DOID:9978"} ! pelvic inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/198167003
property_value: closeMatch http://identifiers.org/snomedct/198168008
property_value: closeMatch http://identifiers.org/snomedct/198170004
property_value: closeMatch http://identifiers.org/snomedct/266583006
property_value: exactMatch DOID:9978
property_value: exactMatch http://identifiers.org/snomedct/85051008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269032

[Term]
id: MONDO:0004941
name: eosinophilia-myalgia syndrome
def: "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" [MESH:D016603]
subset: gard_rare {source="GARD:0006345"}
synonym: "EMS" RELATED [GARD:0006345]
synonym: "eosinophilia myalgia syndrome" EXACT [DOID:998, ICD9CM_2006:710.5]
synonym: "L-tryptophan induced EMS" RELATED [GARD:0006345]
synonym: "severe muscle pain and abnormally high eosinophils" RELATED [GARD:0006345]
synonym: "syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart" RELATED [GARD:0006345]
xref: COHD:258828 {source="MONDO:equivalentTo"}
xref: DOID:998 {source="MONDO:equivalentTo"}
xref: EFO:1001316 {source="MONDO:equivalentTo"}
xref: GARD:0006345 {source="MONDO:equivalentTo"}
xref: ICD9:710.5 {source="DOID:998", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016603 {source="DOID:998", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:95416007 {source="DOID:998", source="MONDO:kboom-pr-1.00/0.84/14.64", source="MONDO:equivalentTo"}
is_a: MONDO:0015691 {source="DOID:998", source="MONDOLEX:0004941", source="linkedlifedata"} ! hypereosinophilic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085179
property_value: exactMatch DOID:998
property_value: exactMatch http://identifiers.org/mesh/D016603
property_value: exactMatch http://identifiers.org/snomedct/95416007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome xsd:anyURI {source="GARD:0006345"}

[Term]
id: MONDO:0004942
name: orbit lymphoma
def: "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma." [NCIT:P378]
synonym: "lymphoma of orbit" EXACT [NCIT:C6244]
synonym: "lymphoma of the orbit" EXACT [DOID:9986, GARD:0009719, NCIT:C6244]
synonym: "orbital lymphoma" RELATED [GARD:0009719]
synonym: "primary orbit lymphoma" EXACT [NCIT:C6244]
synonym: "primary orbital lymphoma" RELATED [GARD:0009719]
xref: DOID:9986 {source="MONDO:equivalentTo"}
xref: GARD:0009719 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C537131 {source="DOID:9986", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6244 {source="DOID:9986", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:13048006 {source="DOID:9986", source="MONDO:equivalentTo"}
xref: UMLS:C0271333 {source="DOID:9986", source="NCIT:C6244", source="MONDO:equivalentTo"}
is_a: MONDO:0002889 {source="DOID:9986", source="NCIT:C6244", source="linkedlifedata/inferred"} ! orbital cancer
property_value: exactMatch DOID:9986
property_value: exactMatch http://identifiers.org/mesh/C537131
property_value: exactMatch http://identifiers.org/snomedct/13048006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271333
property_value: exactMatch NCIT:C6244

[Term]
id: MONDO:0004943
name: orbit sarcoma
def: "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." [NCIT:P378]
synonym: "orbit of skull sarcoma" EXACT [MONDO:patterns/location]
synonym: "orbital sarcoma" EXACT [DOID:9987, NCIT:C6095]
synonym: "sarcoma of orbit" EXACT [NCIT:C6095]
synonym: "sarcoma of orbit of skull" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the orbit" EXACT [NCIT:C6095]
xref: DOID:9987 {source="MONDO:equivalentTo"}
xref: NCIT:C6095 {source="DOID:9987", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:699354006 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="DOID:9987", source="MONDO:equivalentTo"}
xref: UMLS:C1335131 {source="DOID:9987", source="MONDO:equivalentTo", source="NCIT:C6095"}
is_a: MONDO:0002889 {source="DOID:9987", source="MONDO:Redundant", source="NCIT:C6095", source="linkedlifedata", source="linkedlifedata/inferred"} ! orbital cancer
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C6095/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma
property_value: exactMatch DOID:9987
property_value: exactMatch http://identifiers.org/snomedct/699354006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335131
property_value: exactMatch NCIT:C6095

[Term]
id: MONDO:0004944
name: neurosyphilis
def: "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." [NCIT:C84935]
subset: gard_rare
synonym: "late neurosyphilis" EXACT [DOID:9988]
synonym: "neurosyphilis" EXACT [NCIT:C84935]
synonym: "tertiary neurosyphilis" EXACT [DOID:9988]
xref: DOID:9988 {source="MONDO:equivalentTo"}
xref: GARD:0008729 {source="MONDO:equivalentTo"}
xref: ICD10:A52.3 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: ICD9:094 {source="DOID:9988"}
xref: ICD9:094.89 {source="linkedlifedata"}
xref: ICD9:094.9 {source="DOID:9988", source="linkedlifedata"}
xref: NCIT:C84935 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: SCTID:26039008 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: UMLS:C0027927 {source="DOID:9988", source="MEDGEN:kboom-pr98-c99", source="NCIT:C84935", source="GARD:0008729", source="MONDO:equivalentTo"}
is_a: MONDO:0004497 {source="DOID:9988", source="linkedlifedata"} ! tertiary syphilis
property_value: closeMatch http://identifiers.org/mesh/D009494
property_value: closeMatch http://identifiers.org/snomedct/154384001
property_value: closeMatch http://identifiers.org/snomedct/186884004
property_value: closeMatch http://identifiers.org/snomedct/186895005
property_value: closeMatch http://identifiers.org/snomedct/187356008
property_value: closeMatch http://identifiers.org/snomedct/266210001
property_value: exactMatch DOID:9988
property_value: exactMatch http://identifiers.org/snomedct/26039008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027927
property_value: exactMatch NCIT:C84935

[Term]
id: MONDO:0004945
name: obsolete hypereosinophilic syndrome
is_obsolete: true
replaced_by: MONDO:0015691

[Term]
id: MONDO:0004946
name: hypoglycemia
def: "Abnormally low level of glucose in the blood." [NCIT:P378]
synonym: "blood glucose, Low" EXACT [NCIT:C3126]
synonym: "glucose, Low blood" EXACT [NCIT:C3126]
synonym: "hypoglycaemia" EXACT [DOID:9993]
synonym: "low blood glucose" EXACT [NCIT:C3126]
xref: COHD:24609 {source="MONDO:equivalentTo"}
xref: DOID:9993 {source="MONDO:equivalentTo"}
xref: ICD10:E16.2 {source="DOID:9993"}
xref: ICD9:251.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:251.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9993"}
xref: MESH:D007003 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9993"}
xref: NCIT:C3126 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:otherHierarchy", source="DOID:9993"}
xref: SCTID:302866003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9993"}
xref: UMLS:C0020615 {source="MONDO:equivalentTo", source="DOID:9993"}
is_a: MONDO:0002908 {source="DOID:9993", source="MESH:D007003"} ! glucose metabolism disease
relationship: excluded_subClassOf MONDO:0001933 {source="DOID:9993"} ! endocrine pancreas disease
property_value: closeMatch http://identifiers.org/snomedct/154691006
property_value: closeMatch http://identifiers.org/snomedct/154693009
property_value: closeMatch http://identifiers.org/snomedct/190433001
property_value: closeMatch http://identifiers.org/snomedct/190436009
property_value: closeMatch http://identifiers.org/snomedct/237630007
property_value: closeMatch http://identifiers.org/snomedct/271327008
property_value: closeMatch http://identifiers.org/snomedct/66694000
property_value: exactMatch DOID:9993
property_value: exactMatch http://identifiers.org/mesh/D007003
property_value: exactMatch http://identifiers.org/snomedct/302866003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020615
property_value: exactMatch NCIT:C3126

[Term]
id: MONDO:0004947
name: B-cell acute lymphoblastic leukemia
def: "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8936]
synonym: "B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936]
synonym: "precursor B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936]
synonym: "precursor B lymphoblastic lymphoma/leukemia" RELATED [DOID:7061]
synonym: "precursor B-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8936]
xref: DOID:7061 {source="MONDO:equivalentTo", source="EFO:0000094"}
xref: EFO:0000094 {source="MONDO:equivalentTo"}
xref: NCIT:C8936 {source="DOID:7061", source="MONDO:equivalentTo", source="EFO:0000094"}
xref: SCTID:277571004 {source="MONDO:equivalentTo", source="EFO:0000094", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004967 {source="EFO:0000094", source="MONDOLEX:0004947", source="linkedlifedata"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0015759 {source="MONDO:Redundant", source="OWLReasoner:2017"} ! B-cell non-Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0862030
property_value: exactMatch DOID:7061
property_value: exactMatch http://identifiers.org/snomedct/277571004
property_value: exactMatch NCIT:C8936

[Term]
id: MONDO:0004948
name: B-cell chronic lymphocytic leukemia
def: "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." [Orphanet:67038]
subset: ordo_disease {source="Orphanet:67038"}
synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B cell CLL" EXACT [NCIT:C3163]
synonym: "B cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163]
synonym: "B-cell chronic lymphogenous leukemia" EXACT [NCIT:C3163]
synonym: "B-cell chronic lymphoid leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038]
synonym: "B-cell CLL" EXACT [NCIT:C3163]
synonym: "B-cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B-CLL" EXACT [Orphanet:67038]
synonym: "BCLL" EXACT [NCIT:C3163]
synonym: "chronic B-cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "chronic lymphatic leukemia" EXACT [DOID:1040, NCIT:C3163]
synonym: "chronic lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163]
synonym: "chronic lymphocytic leukemia, NOS" RELATED EXCLUDE [NCIT:C3163]
synonym: "chronic lymphogenous leukemia" EXACT [NCIT:C3163]
synonym: "CLL" EXACT [DOID:1040, NCIT:C3163]
synonym: "CLL" RELATED [MONDO:Lexical, OMIM:151400]
synonym: "hematopoeitic - chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163]
synonym: "leukemia, chronic lymphatic" RELATED [OMIM:151400]
synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical, OMIM:151400]
synonym: "leukemia, chronic LYMPHOCYTIC; CLL" RELATED [OMIM:151400]
synonym: "leukemia, lymphocytic, chronic" RELATED [GARD:0006104]
synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040]
synonym: "small lymphocytic lymphoma" EXACT [Orphanet:67038]
xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"}
xref: EFO:0000095 {source="MONDO:equivalentTo", source="DOID:1040"}
xref: GARD:0006104 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:C91.1 {source="Orphanet:67038", source="DOID:1040", source="ORDO:67038/ntbt"}
xref: ICD10:C91.10 {source="DOID:1040"}
xref: ICD9:204.1 {source="EFO:0000095", source="DOID:1040"}
xref: MedDRA:10008958 {source="Orphanet:67038", source="ORDO:67038/e"}
xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"}
xref: NCIT:C3163 {source="MONDO:equivalentTo", source="EFO:0000095", source="DOID:1040"}
xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"}
xref: Orphanet:67038 {source="MONDO:equivalentTo", source="DOID:1040", source="OMIM:151400"}
xref: UMLS:C0023434 {source="Orphanet:67038", source="NCIT:C3163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:67038/e", source="DOID:1040", source="OMIM:151400"}
xref: UMLS:C0855095 {source="Orphanet:67038", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001014 {source="MONDOLEX:0004948", source="NCIT:C3163"} ! chronic leukemia
is_a: MONDO:0004949 {source="EFO:0000095", source="NCIT:C3163/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0004967 {source="DOID:1040", source="MONDO:Redundant", source="indirect"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0017594 {source="Orphanet:67038"} ! indolent B-cell non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/154589005
property_value: closeMatch http://identifiers.org/snomedct/277473004
property_value: closeMatch http://identifiers.org/snomedct/51092000
property_value: closeMatch http://identifiers.org/snomedct/92814006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868683
property_value: exactMatch DOID:1040
property_value: exactMatch http://identifiers.org/meddra/10008958
property_value: exactMatch http://identifiers.org/mesh/D015451
property_value: exactMatch http://identifiers.org/omim/151400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855095
property_value: exactMatch NCIT:C3163
property_value: exactMatch Orphanet:67038

[Term]
id: MONDO:0004949
name: neoplasm of mature B-cells
def: "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." [NCIT:P378]
comment: Editor note: is a non-hodgkin in ONCOTREE
synonym: "mature B-cell lymphocytic neoplasm" EXACT [DOID:706, NCIT:C27910]
synonym: "mature B-cell neoplasm" EXACT [NCIT:C27910]
synonym: "mature B-cell neoplasms" RELATED [ONCOTREE:MBN]
xref: DOID:706 {source="MONDO:equivalentTo"}
xref: EFO:0000096 {source="MONDO:equivalentTo", source="DOID:706"}
xref: ICD9:202.0 {source="EFO:0000096"}
xref: NCIT:C27910 {source="MONDO:equivalentTo", source="DOID:706", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:MBN {source="MONDO:equivalentTo"}
xref: SCTID:269476000 {source="EFO:0000096", source="MONDO:equivalentTo"}
xref: UMLS:C1334633 {source="MONDO:equivalentTo", source="NCIT:C27910", source="DOID:706"}
is_a: MONDO:0004095 {source="DOID:706", source="MONDOLEX:0004949", source="NCIT:C27910"} ! B-cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/40411000
property_value: closeMatch http://identifiers.org/snomedct/46744002
property_value: closeMatch http://identifiers.org/snomedct/55020008
property_value: closeMatch http://identifiers.org/snomedct/55150002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL448793
property_value: exactMatch DOID:706
property_value: exactMatch http://identifiers.org/snomedct/269476000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334633
property_value: exactMatch NCIT:C27910

[Term]
id: MONDO:0004950
name: gastric carcinoma
def: "A carcinoma that arises from epithelial cells of the stomach." [MONDO:DesignPattern]
synonym: "Ca fundus - stomach" EXACT [DOID:10538]
synonym: "cancer of fundus of stomach" EXACT [MONDO:patterns/cancer]
synonym: "cancer of stomach" BROAD [NCIT:C4911]
synonym: "cancer of the stomach" BROAD [DOID:5517, NCIT:C4911]
synonym: "carcinoma of stomach" EXACT [DOID:5517, MONDO:patterns/carcinoma, NCIT:C4911]
synonym: "carcinoma of the stomach" EXACT [NCIT:C4911]
synonym: "fundus of stomach cancer" EXACT [MONDO:patterns/location]
synonym: "gastric (stomach) cancer" BROAD [NCIT:C4911]
synonym: "gastric cancer" BROAD [NCIT:C4911]
synonym: "gastric cancer, NOS" BROAD [NCIT:C4911]
synonym: "gastric carcinoma" EXACT [DOID:5517, NCIT:C4911]
synonym: "gastric fundus cancer" EXACT [DOID:10538]
synonym: "malignant fundus of stomach neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of fundus of stomach" EXACT [DOID:10538, ICD9CM_2006:151.3, MONDO:patterns/cancer]
synonym: "malignant tumor of fundus of stomach" EXACT [DOID:10538]
synonym: "stomach cancer" BROAD [NCIT:C4911]
synonym: "stomach carcinoma" EXACT [MONDO:patterns/location, NCIT:C4911]
xref: DOID:10538 {source="MONDO:equivalentTo"}
xref: DOID:5517 {source="MONDO:equivalentTo"}
xref: EFO:0000178 {source="MONDO:equivalentTo", source="DOID:5517"}
xref: ICD10:C16.1 {source="DOID:10538"}
xref: ICD9:151.3 {source="MONDO:equivalentTo", source="DOID:10538", source="i2s"}
xref: ICD9:230.2 {source="MONDO:relatedTo", source="EFO:0000178"}
xref: NCIT:C4911 {source="EFO:0000178", source="MONDO:equivalentTo", source="DOID:5517"}
xref: SCTID:187741001 {source="MONDO:equivalentTo", source="DOID:10538", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153420 {source="MONDO:equivalentTo", source="DOID:10538"}
xref: UMLS:C0699791 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:5517", source="NCIT:C4911"}
is_a: MONDO:0001056 {source="DOID:5517", source="MONDO:Redundant", source="MONDOLEX:0004950", source="NCIT:C4911"} ! gastric cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4911", source="OWLReasoner:2017"} ! digestive system carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154446008
property_value: closeMatch http://identifiers.org/snomedct/154449001
property_value: closeMatch http://identifiers.org/snomedct/255080008
property_value: closeMatch http://identifiers.org/snomedct/269528004
property_value: closeMatch http://identifiers.org/snomedct/372143007
property_value: closeMatch http://identifiers.org/snomedct/93809003
property_value: exactMatch DOID:10538
property_value: exactMatch DOID:5517
property_value: exactMatch http://identifiers.org/snomedct/187741001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699791
property_value: exactMatch NCIT:C4911

[Term]
id: MONDO:0004951
name: susceptibility to HIV infection
def: "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." [NCIT:P378]
subset: predisposition
synonym: "acquired immunodeficiency syndrome, progression to" RELATED [OMIM:609423]
synonym: "AIDS, progression to" RELATED [OMIM:609423]
synonym: "HIV-1, resistance to" RELATED [OMIM:609423]
synonym: "HIV-1, susceptibility to" RELATED [OMIM:609423]
synonym: "human immunodeficiency virus type 1, resistance to" RELATED [OMIM:609423]
synonym: "human immunodeficiency virus type 1, susceptibility to" RELATED [OMIM:609423]
xref: OMIM:609423 {source="MONDO:equivalentTo", source="EFO:0000180"}
xref: UMLS:CN282826 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: predisposes_towards MONDO:0005109 ! HIV infectious disease
relationship: disease_has_feature MONDO:0012268 ! AIDS
relationship: predisposes_towards MONDO:0005109 ! HIV infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836230
property_value: exactMatch http://identifiers.org/omim/609423
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN282826
property_value: exactMatch NCIT:C14220

[Term]
id: MONDO:0004952
name: Hodgkins lymphoma
def: "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." [NCIT:C9357, Orphanet:98293]
subset: ordo_group_of_disorders {source="Orphanet:98293"}
synonym: "HL" EXACT [DOID:8567, NCIT:C9357]
synonym: "Hodgkin disease" EXACT [DOID:8567, MTH:NOCODE, NCIT:C9357]
synonym: "Hodgkin lymphoma" EXACT [DOID:8567, NCIT:C9357]
synonym: "Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C9357]
synonym: "Hodgkin's disease" EXACT [NCIT:C9357, Orphanet:98293]
synonym: "Hodgkin's lymphoma" EXACT [NCIT:C9357, Orphanet:98293]
synonym: "Hodgkin's sarcoma" EXACT [DOID:8567, ICD9CM_2006:201.2]
synonym: "Hodgkins lymphoma" EXACT [DOID:8567]
synonym: "lymphoma, Hodgkin's" RELATED [GARD:0002714]
synonym: "stage I subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5012]
synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5010]
xref: DOID:8567 {source="MONDO:equivalentTo", source="EFO:0000183"}
xref: EFO:0000183 {source="DOID:8567", source="MONDO:equivalentTo"}
xref: GARD:0002714 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C81 {source="DOID:8567"}
xref: ICD10:C81.9 {source="DOID:8567"}
xref: ICD9:201 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.0 {source="DOID:8567"}
xref: ICD9:201.1 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.2 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.9 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.90 {source="EFO:0000183"}
xref: ICDO:9650/3 {source="NCIT:C9357"}
xref: MESH:D006689 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"}
xref: NCIT:C9357 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"}
xref: ONCOTREE:HL {source="MONDO:equivalentTo"}
xref: Orphanet:98293 {source="DOID:8567", source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="DOID:8567", source="EFO:0000183", source="MESH:D006689", source="NCIT:C9357", source="Orphanet:98293"} ! lymphoma
is_a: MONDO:0017343 {source="Orphanet:98293"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: closeMatch http://identifiers.org/snomedct/118599009
property_value: closeMatch http://identifiers.org/snomedct/118605002
property_value: closeMatch http://identifiers.org/snomedct/118606001
property_value: closeMatch http://identifiers.org/snomedct/14537002
property_value: closeMatch http://identifiers.org/snomedct/154582001
property_value: closeMatch http://identifiers.org/snomedct/188521005
property_value: closeMatch http://identifiers.org/snomedct/188522003
property_value: closeMatch http://identifiers.org/snomedct/188532005
property_value: closeMatch http://identifiers.org/snomedct/188533000
property_value: closeMatch http://identifiers.org/snomedct/188542007
property_value: closeMatch http://identifiers.org/snomedct/188543002
property_value: closeMatch http://identifiers.org/snomedct/188552006
property_value: closeMatch http://identifiers.org/snomedct/188595005
property_value: closeMatch http://identifiers.org/snomedct/188596006
property_value: closeMatch http://identifiers.org/snomedct/188605006
property_value: closeMatch http://identifiers.org/snomedct/189987006
property_value: closeMatch http://identifiers.org/snomedct/189991001
property_value: closeMatch http://identifiers.org/snomedct/189992008
property_value: closeMatch http://identifiers.org/snomedct/269509006
property_value: closeMatch http://identifiers.org/snomedct/309831004
property_value: closeMatch http://identifiers.org/snomedct/46923007
property_value: closeMatch http://identifiers.org/snomedct/52337003
property_value: closeMatch http://identifiers.org/snomedct/70600005
property_value: closeMatch http://identifiers.org/snomedct/74189002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019829
property_value: closeMatch NCIT:C5010
property_value: closeMatch NCIT:C5012
property_value: closeMatch NCIT:C7702
property_value: exactMatch DOID:8567
property_value: exactMatch http://identifiers.org/mesh/D006689
property_value: exactMatch NCIT:C9357
property_value: exactMatch Orphanet:98293

[Term]
id: MONDO:0004953
name: invasive ductal breast carcinoma
def: "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." [NCIT:P378]
synonym: "breast invasive ductal carcinoma" RELATED [ONCOTREE:IDC]
synonym: "ductal adenocarcinoma" EXACT [DOID:3008, NCIT:C4017]
synonym: "infiltrating ductal adenocarcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal breast carcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal carcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal carcinoma of breast" EXACT [DOID:3008, NCIT:C4194]
synonym: "infiltrating ductal carcinoma of the breast" EXACT [NCIT:C4194]
synonym: "invasive ductal adenocarcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal breast carcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma of breast" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma of the breast" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma, No specific type" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma, NOS" RELATED EXCLUDE [NCIT:C4194]
synonym: "invasive ductal carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4194]
synonym: "invasive ductal carcinoma, NST" EXACT [DOID:3008, NCIT:C4194]
xref: DOID:3008 {source="EFO:0000186", source="MONDO:equivalentTo"}
xref: EFO:0000186 {source="MONDO:equivalentTo"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8500/3 {source="NCIT:C4194"}
xref: ICDO:8521/3 {source="NCIT:C4194"}
xref: NCIT:C4194 {source="MONDO:kboom-pr-0.88/0.76/0.15", source="EFO:0000186", source="MONDO:equivalentTo", source="DOID:3008"}
xref: ONCOTREE:IDC {source="MONDO:equivalentTo"}
xref: SCTID:408643008 {source="MONDO:kboom-pr-1.00/0.81/10.74", source="MONDO:equivalentTo", source="DOID:3008"}
is_a: MONDO:0005590 {source="DOID:3008", source="MONDO:Redundant", source="MONDOLEX:0004953", source="NCIT:C4194"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C4194", source="ONCOTREE:IDC"} ! invasive breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/58477004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1134719
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527349
property_value: exactMatch DOID:3008
property_value: exactMatch http://identifiers.org/snomedct/408643008
property_value: exactMatch NCIT:C4194

[Term]
id: MONDO:0004954
name: obsolete malt lymphoma
is_obsolete: true
replaced_by: MONDO:0007650

[Term]
id: MONDO:0004955
name: metabolic syndrome
def: "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." [NCIT:C84442]
synonym: "metabolic syndrome" EXACT [NCIT:C84442]
synonym: "metabolic syndrome X" EXACT [NCIT:C84442]
xref: EFO:0000195 {source="MONDO:equivalentTo"}
xref: ICD10:E88.81 {source="MONDO:equivalentTo"}
xref: ICD9:277.7 {source="EFO:0000195", source="MONDO:superClassOf"}
xref: NCIT:C84442 {source="EFO:0000195", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0004955", source="NCIT:C84442"} ! syndromic disease
is_a: MONDO:0005066 {source="EFO:0000195", source="ICD10:E88.81/inferred"} ! metabolic disease
property_value: exactMatch NCIT:C84442

[Term]
id: MONDO:0004956
name: metastatic prostate carcinoma
def: "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." [NCIT:C8946]
synonym: "metastatic prostate cancer" EXACT [NCIT:C8946]
synonym: "metastatic prostate carcinoma" EXACT [NCIT:C8946]
synonym: "prostate cancer metastatic" EXACT [NCIT:C8946]
synonym: "prostate carcinoma metastatic" EXACT [NCIT:C8946]
xref: EFO:0000196 {source="MONDO:equivalentTo"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8946 {source="EFO:0000196", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:314994000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.69"}
is_a: MONDO:0005159 {source="EFO:0000196", source="MONDO:Redundant", source="MONDOLEX:0004956", source="NCIT:C8946", source="OWLReasoner:2017"} ! prostate carcinoma
relationship: disease_has_feature MONDO:0024879 ! metastatic carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1282496
property_value: exactMatch http://identifiers.org/snomedct/314994000
property_value: exactMatch NCIT:C8946

[Term]
id: MONDO:0004957
name: mucinous adenocarcinoma
def: "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." [NCIT:C26712]
synonym: "adenocarcinoma, mucinous, malignant" EXACT [NCIT:C26712]
synonym: "CEMU" RELATED [ONCOTREE:CEMU]
synonym: "colloid adenocarcinoma" EXACT [NCIT:C26712]
synonym: "colloid carcinoma" EXACT [NCIT:C26712]
synonym: "gelatinous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "gelatinous carcinoma" EXACT [NCIT:C26712]
synonym: "mucin-producing adenocarcinoma" EXACT [DOID:3030]
synonym: "mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [DOID:3030]
synonym: "mucin-secreting adenocarcinoma" EXACT [DOID:3030, NCIT:C27379]
synonym: "mucin-secreting carcinoma" EXACT [DOID:3030, NCIT:C27825]
synonym: "mucinous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucinous carcinoma" EXACT [NCIT:C26712]
synonym: "mucinuos carcinoma" EXACT [MONDO:0006310]
synonym: "mucoid adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucoid carcinoma" EXACT [NCIT:C26712]
synonym: "mucous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucous carcinoma" EXACT [DOID:3030, NCIT:C26712]
synonym: "pseudomyxoma peritonei with unknown primary site" EXACT [DOID:3030]
xref: DOID:3030 {source="EFO:0000197", source="MONDO:equivalentTo"}
xref: EFO:0000197 {source="MONDO:equivalentTo"}
xref: ICDO:8480/3 {source="NCIT:C26712"}
xref: MESH:D002288 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3030"}
xref: NCIT:C26712 {source="EFO:0000197", source="MONDO:equivalentTo", source="EFO:1000387", source="DOID:3030"}
xref: ONCOTREE:CEMU {source="MONDO:equivalentTo"}
xref: UMLS:C0007130 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="EFO:1000387", source="NCIT:C26712", source="DOID:3030"}
xref: UMLS:C0334368 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:3030"}
is_a: MONDO:0004970 {source="DOID:3030", source="EFO:1000387", source="MESH:D002288", source="MONDO:Redundant", source="MONDOLEX:0004957", source="NCIT:C26712"} ! adenocarcinoma
is_a: MONDO:0020596 ! mucin-producing carcinoma
intersection_of: MONDO:0004970 {source="NCIT:C26712"} ! adenocarcinoma
intersection_of: MONDO:0024338 {source="NCIT:C26712"} ! mucinous neoplasm
property_value: closeMatch http://identifiers.org/snomedct/72495009
property_value: closeMatch http://identifiers.org/snomedct/900006
property_value: closeMatch NCIT:C27379
property_value: exactMatch DOID:3030
property_value: exactMatch http://identifiers.org/mesh/D002288
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334368
property_value: exactMatch NCIT:C26712

[Term]
id: MONDO:0004958
name: oral cavity squamous cell carcinoma
def: "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." [NCIT:C4833]
subset: gard_rare {source="GARD:0007263"}
subset: ordo_disease
synonym: "mouth scc" EXACT [NCIT:C4833]
synonym: "mouth squamous cell carcinoma" EXACT [DOID:0050866, MONDO:patterns/location, NCIT:C4833]
synonym: "OCSC" RELATED [ONCOTREE:OCSC]
synonym: "oral cavity scc" EXACT [NCIT:C4833]
synonym: "oral cavity squamous cell cancer" EXACT [NCIT:C4833]
synonym: "oral cavity squamous cell carcinoma" EXACT [NCIT:C4833]
synonym: "oral squamous cell carcinoma" RELATED [DOID:0050866, GARD:0007263]
synonym: "scc of mouth" EXACT [NCIT:C4833]
synonym: "scc of oral cavity" EXACT [NCIT:C4833]
synonym: "scc of the mouth" EXACT [NCIT:C4833]
synonym: "scc of the oral cavity" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of mouth" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of oral cavity" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of the mouth" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833]
xref: DOID:0050866 {source="EFO:0000199", source="MONDO:equivalentTo"}
xref: EFO:0000199 {source="MONDO:equivalentTo"}
xref: GARD:0007263 {source="MONDO:equivalentTo"}
xref: NCIT:C4833 {source="EFO:0000199", source="MONDO:equivalentTo"}
xref: ONCOTREE:OCSC {source="MONDO:equivalentTo"}
xref: Orphanet:502363 {source="MONDO:equivalentTo"}
xref: SCTID:307502000 {source="EFO:0000199", source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C0585362 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4833"}
is_a: MONDO:0044710 ! lip and oral cavity squamous cell carcinoma
is_a: MONDO:0044925 ! oral cavity carcinoma
property_value: exactMatch DOID:0050866
property_value: exactMatch http://identifiers.org/snomedct/307502000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585362
property_value: exactMatch NCIT:C4833
property_value: exactMatch Orphanet:502363
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma xsd:anyURI {source="GARD:0007263"}

[Term]
id: MONDO:0004959
name: plasma cell neoplasm
def: "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." [NCIT:C4665]
comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39
subset: ordo_group_of_disorders {source="Orphanet:98282"}
synonym: "plasma cell disorder" RELATED []
synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665]
synonym: "plasma cell neoplasm" EXACT [NCIT:C4665]
synonym: "plasma cell tumor" EXACT [MONDO:0020079, NCIT:C4665]
synonym: "plasma cell tumor, malignant" EXACT [NCIT:C4665]
synonym: "plasma cell tumour" EXACT [DOID:6536]
synonym: "plasmacytic neoplasm" EXACT [NCIT:C4665]
synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665]
synonym: "plasmacytic tumour" EXACT [NCIT:C4665]
xref: COHD:443743 {source="MONDO:equivalentTo"}
xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"}
xref: EFO:0000200 {source="DOID:6536", source="MONDO:equivalentTo"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D054219 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4665 {source="EFO:0000200", source="MONDO:equivalentTo"}
xref: Orphanet:98282 {source="MONDO:equivalentTo"}
xref: SCTID:415111003 {source="EFO:0000200", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1959632 {source="MONDO:equivalentTo", source="Orphanet:98282"}
is_a: MONDO:0004949 {source="DOID:6536", source="EFO:0000200", source="NCIT:C4665"} ! neoplasm of mature B-cells
property_value: closeMatch http://identifiers.org/snomedct/277576009
property_value: closeMatch http://identifiers.org/snomedct/71390001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136084
property_value: exactMatch DOID:6536
property_value: exactMatch http://identifiers.org/mesh/D054219
property_value: exactMatch http://identifiers.org/snomedct/415111003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959632
property_value: exactMatch NCIT:C4665
property_value: exactMatch Orphanet:98282

[Term]
id: MONDO:0004960
name: monoclonal gammopathy
def: "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." [https://github.com/monarch-initiative/mondo/issues/227, NCIT:C35548]
xref: COHD:4002359 {source="MONDO:equivalentTo"}
xref: EFO:0000203 {source="MONDO:equivalentTo"}
xref: ICD10:D47.2 {source="MONDO:equivalentTo"}
xref: MESH:D010265 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35548 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000203", source="exact-label-match"}
xref: SCTID:109983007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.69"}
is_a: MONDO:0005570 {source="EFO:0000203", source="EFO:pr", source="MESH:D010265/inferred", source="https://github.com/EBISPOT/efo/issues/149"} ! hematologic disease
relationship: excluded_subClassOf MONDO:0004959 {source="EFO:0000203"} ! plasma cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/35601003
property_value: exactMatch http://identifiers.org/mesh/D010265
property_value: exactMatch http://identifiers.org/snomedct/109983007
property_value: exactMatch NCIT:C35548

[Term]
id: MONDO:0004961
name: stage I endometrioid carcinoma
def: "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." [EFO:0000205]
xref: EFO:0000205 {source="MONDO:equivalentTo"}
is_a: MONDO:0005026 {source="https://github.com/monarch-initiative/mondo/issues/490"} ! endometrioid adenocarcinoma
relationship: excluded_subClassOf MONDO:0021007 ! obsolete stage of disease
relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcinoma (disease)

[Term]
id: MONDO:0004962
name: stage II endometrioid carcinoma
def: "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." [EFO:0000206]
xref: EFO:0000206 {source="MONDO:equivalentTo"}
is_a: MONDO:0005026 ! endometrioid adenocarcinoma
relationship: excluded_subClassOf MONDO:0021007 ! obsolete stage of disease
relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcinoma (disease)

[Term]
id: MONDO:0004963
name: T-cell acute lymphoblastic leukemia
def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" [NCIT:C3183]
synonym: "acute T cell leukemia" EXACT [NCIT:C3183]
synonym: "acute T cell lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "acute T cell lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "precursor T-lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [NCIT:C3183]
synonym: "T acute lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "T-ALL" EXACT [NCIT:C3183]
synonym: "T-cell acute lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "T-cell acute lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "T-cell ALL" EXACT [NCIT:C3183]
synonym: "T-cell type acute leukemia" EXACT [NCIT:C3183]
xref: EFO:0000209 {source="MONDO:equivalentTo"}
xref: HGNC:5056 {source="EFO:0000209"}
xref: ICDO:9837/3 {source="NCIT:C3183"}
xref: NCIT:C3183 {source="MONDO:equivalentTo", source="EFO:0000209"}
is_a: MONDO:0004967 {source="EFO:0000209", source="MONDO:Redundant", source="MONDOLEX:0004963", source="NCIT:C3183"} ! acute lymphoblastic leukemia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961099
property_value: exactMatch NCIT:C3183

[Term]
id: MONDO:0004964
name: peripheral T-cell lymphoma, not otherwise specified
def: "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant." [NCIT:C4340]
synonym: "peripheral T-cell lymphoma, NOS" RELATED EXCLUDE [NCIT:C4340]
synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT EXCLUDE [NCIT:C4340]
synonym: "PTCL" RELATED [ONCOTREE:PTCL]
xref: EFO:0000211 {source="MONDO:equivalentTo"}
xref: NCIT:C4340 {source="EFO:0000211", source="MONDO:equivalentTo"}
xref: ONCOTREE:PTCL {source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! lymphoma
is_a: MONDO:0005169 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! neoplasm of mature T-cells or NK-cells
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2853959
property_value: exactMatch NCIT:C4340

[Term]
id: MONDO:0004965
name: acinar cell carcinoma
def: "A carcinoma that arises from epithelial cells of the acinar cell" [MONDO:DesignPattern]
synonym: "ACCC" RELATED [ONCOTREE:ACCC]
synonym: "acinar adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinar carcinoma" EXACT [NCIT:C3768]
synonym: "acinar cell adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinar cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3768]
synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [DOID:3025]
synonym: "acinic cell adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinic cell carcinoma" EXACT [DOID:3025, NCIT:C3768]
synonym: "acinic cell tumor" RELATED [GARD:0008568]
synonym: "carcinoma of acinar cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, acinar cell, malignant" EXACT [NCIT:C3768]
xref: DOID:3025 {source="MONDO:equivalentTo", source="EFO:0000216"}
xref: EFO:0000216 {source="MONDO:equivalentTo"}
xref: GARD:0008568 {source="MONDO:equivalentTo"}
xref: ICDO:8550/3 {source="NCIT:C3768"}
xref: MESH:D018267 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216", source="MONDO:ontobio"}
xref: NCIT:C3768 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"}
xref: ONCOTREE:ACCC {source="MONDO:equivalentTo"}
xref: UMLS:C0206685 {source="DOID:3025", source="MONDO:equivalentTo", source="NCIT:C3768"}
is_a: MONDO:0004970 {source="MESH:D018267", source="MONDOLEX:0004965", source="NCIT:C3768"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/45410002
property_value: exactMatch DOID:3025
property_value: exactMatch http://identifiers.org/mesh/D018267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206685
property_value: exactMatch NCIT:C3768

[Term]
id: MONDO:0004966
name: gastritis (disease)
def: "Inflammation of the stomach." [NCIT:C26780]
synonym: "acute gastric mucosal erosion" EXACT [DOID:4029]
synonym: "erosive gastritis" EXACT [DOID:4029]
synonym: "erosive gastropathy" EXACT [DOID:4029]
synonym: "gastritis" EXACT [MONDO:ambiguous, NCIT:C26780]
synonym: "inflammation of stomach" EXACT []
synonym: "stomach inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:201340 {source="MONDO:equivalentTo"}
xref: DOID:4029 {source="MONDO:equivalentTo", source="EFO:0000217"}
xref: EFO:0000217 {source="MONDO:equivalentTo"}
xref: HP:0005263 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K29.7 {source="DOID:4029"}
xref: ICD9:535.0 {source="EFO:0000217"}
xref: ICD9:535.00 {source="EFO:0000217"}
xref: ICD9:535.01 {source="EFO:0000217"}
xref: ICD9:535.4 {source="EFO:0000217"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="i2s", source="EFO:0000217"}
xref: ICD9:535.41 {source="EFO:0000217"}
xref: MESH:D005756 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217", source="MONDO:ontobio"}
xref: NCIT:C26780 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"}
xref: SCTID:4556007 {source="MONDO:kboom-pr-0.94/0.86/0.38", source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"}
xref: UMLS:C0017152 {source="NCIT:C26780", source="MONDO:equivalentTo", source="DOID:4029"}
xref: UMLS:C0267112 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2243088 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2243090 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3854048 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004298 {source="DOID:4029", source="MESH:D005756", source="MONDO:Redundant", source="NCIT:C26780/inferred", source="linkedlifedata"} ! stomach disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155711008
property_value: closeMatch http://identifiers.org/snomedct/196743006
property_value: closeMatch http://identifiers.org/snomedct/235653009
property_value: closeMatch http://identifiers.org/snomedct/266503008
property_value: exactMatch DOID:4029
property_value: exactMatch http://identifiers.org/mesh/D005756
property_value: exactMatch http://identifiers.org/snomedct/4556007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267112
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2243088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2243090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3854048
property_value: exactMatch NCIT:C26780

[Term]
id: MONDO:0004967
name: acute lymphoblastic leukemia (disease)
def: "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." [NCIT:C3167]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:513"}
synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167]
synonym: "acute lymphoblastic leukemia (ALL)" EXACT [NCIT:C3167]
synonym: "acute lymphoblastic leukemia, NOS" RELATED EXCLUDE [NCIT:C3167]
synonym: "acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:513]
synonym: "acute lymphocytic leukaemia" EXACT [NCIT:C3167]
synonym: "acute lymphocytic leukemia" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513]
synonym: "acute lymphocytic leukemias" EXACT [NCIT:C3167]
synonym: "acute lymphogenous leukemia" EXACT [NCIT:C3167]
synonym: "acute lymphoid leukemia" EXACT [NCIT:C3167]
synonym: "ALL" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513]
synonym: "ALL - acute lymphocytic leukemia" EXACT [NCIT:C3167]
synonym: "leukemia, lymphoblastic, malignant" EXACT [NCIT:C3167]
synonym: "lymphoblastic leukemia" BROAD [NCIT:C3167]
synonym: "lymphoblastic leukemia, acute" EXACT [MONDO:patterns/acute]
synonym: "precursor cell lymphoblastic leukemia" EXACT [NCIT:C3167]
synonym: "precursor Lymphoblasic leukemia" EXACT [NCIT:C3167]
synonym: "precursor lymphoblastic leukemia" EXACT [NCIT:C3167]
xref: COHD:134305 {source="MONDO:equivalentTo"}
xref: DOID:1037 {source="MONDO:obsoleteEquivalent"}
xref: DOID:9952 {source="EFO:0000220", source="MONDO:equivalentTo"}
xref: EFO:0000220 {source="DOID:9952", source="MONDO:equivalentTo"}
xref: GARD:0000522 {source="MONDO:equivalentTo"}
xref: HP:0006721 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C91 {source="DOID:1037"}
xref: ICD10:C91.0 {source="DOID:9952", source="ORDO:513/e", source="Orphanet:513"}
xref: ICD10:C91.00 {source="DOID:9952"}
xref: ICD10:C91.9 {source="DOID:1037"}
xref: ICD10:C91.90 {source="DOID:1037"}
xref: ICD9:204 {source="DOID:1037"}
xref: ICD9:204.0 {source="DOID:9952", source="EFO:0000220"}
xref: ICD9:204.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:204.9 {source="DOID:1037"}
xref: ICDO:9835/3 {source="NCIT:C3167"}
xref: NCIT:C3167 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="DOID:9952", source="MONDO:equivalentTo", source="GARD:0000522"}
xref: SCTID:91857003 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.82/0.62/0.23"}
is_a: MONDO:0003538 {source="EFO:0000220", source="NCIT:C3167"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0005168 {source="EFO:0000220"} ! neoplasm of immature B and T cells
is_a: MONDO:0005402 {source="NCIT:C3167"} ! lymphoid leukemia (disease)
is_a: MONDO:0018908 {source="Orphanet:513"} ! non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/mesh/D015452
property_value: closeMatch http://identifiers.org/mesh/D054198
property_value: closeMatch http://identifiers.org/snomedct/128807009
property_value: closeMatch http://identifiers.org/snomedct/128822004
property_value: closeMatch http://identifiers.org/snomedct/128823009
property_value: closeMatch http://identifiers.org/snomedct/154587007
property_value: closeMatch http://identifiers.org/snomedct/154588002
property_value: closeMatch http://identifiers.org/snomedct/188725004
property_value: closeMatch http://identifiers.org/snomedct/188731001
property_value: closeMatch http://identifiers.org/snomedct/190033006
property_value: closeMatch http://identifiers.org/snomedct/190034000
property_value: closeMatch http://identifiers.org/snomedct/269631008
property_value: closeMatch http://identifiers.org/snomedct/32280000
property_value: closeMatch http://identifiers.org/snomedct/900000000000452009
property_value: closeMatch http://identifiers.org/snomedct/90151006
property_value: closeMatch http://identifiers.org/snomedct/93170002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023449
property_value: exactMatch DOID:1037
property_value: exactMatch DOID:9952
property_value: exactMatch http://identifiers.org/snomedct/91857003
property_value: exactMatch NCIT:C3167
property_value: exactMatch Orphanet:513

[Term]
id: MONDO:0004968
name: obsolete acute myelomonocytic leukemia
is_obsolete: true
replaced_by: MONDO:0018871

[Term]
id: MONDO:0004969
name: acute quadriplegic myopathy
def: "acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." [EFO:0000225]
xref: EFO:0000225 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="EFO:0000225"} ! myopathy

[Term]
id: MONDO:0004970
name: adenocarcinoma
def: "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." [NCIT:C2852]
synonym: "adenocarcinoma" EXACT [NCIT:C2852]
synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:299]
synonym: "adenocarcinoma, malignant" EXACT [NCIT:C2852]
synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [DOID:299]
synonym: "adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C2852]
synonym: "adenocarcinomas" EXACT [DOID:299]
synonym: "ADNOS" RELATED [ONCOTREE:ADNOS]
xref: CSP:2000-0386 {source="DOID:299"}
xref: DOID:299 {source="MONDO:equivalentTo", source="EFO:0000228"}
xref: EFO:0000228 {source="MONDO:equivalentTo"}
xref: ICDO:8140/3 {source="NCIT:C2852"}
xref: MESH:D000230 {source="MONDO:equivalentTo", source="EFO:0000228", source="DOID:299"}
xref: NCIT:C2852 {source="MONDO:equivalentTo", source="EFO:0000228", source="DOID:299", source="exact-label-match"}
xref: ONCOTREE:ADNOS {source="MONDO:equivalentTo"}
xref: SCTID:443961001 {source="MONDO:equivalentTo", source="DOID:299"}
xref: UMLS:C0001418 {source="MONDO:equivalentTo", source="NCIT:C2852", source="DOID:299"}
is_a: MONDO:0004993 {source="DOID:299", source="EFO:0000228", source="MESH:D000230", source="MONDOLEX:0004970", source="NCIT:C2852", source="linkedlifedata"} ! carcinoma
is_a: MONDO:0024276 {source="NCIT:C2852"} ! glandular cell neoplasm
disjoint_from: MONDO:0004972 ! adenoma
property_value: closeMatch http://identifiers.org/snomedct/189578007
property_value: closeMatch http://identifiers.org/snomedct/189582009
property_value: closeMatch http://identifiers.org/snomedct/35917007
property_value: exactMatch DOID:299
property_value: exactMatch http://identifiers.org/mesh/D000230
property_value: exactMatch http://identifiers.org/snomedct/443961001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001418
property_value: exactMatch NCIT:C2852

[Term]
id: MONDO:0004971
name: adenoid cystic carcinoma
def: "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." [NCIT:C2970]
subset: gard_rare
synonym: "adenocystic carcinoma" EXACT [GARD:0005743, NCIT:C2970]
synonym: "adenoid cystic cancer" EXACT [NCIT:C2970]
synonym: "adenoid cystic carcinoma" EXACT [NCIT:C2970]
synonym: "cribriform carcinoma" RELATED [GARD:0005743]
synonym: "cylindroid adenocarcinoma" EXACT [NCIT:C2970]
synonym: "cylindroma" RELATED [GARD:0005743]
xref: DOID:0080202 {source="MONDO:equivalentTo"}
xref: EFO:0000231 {source="MONDO:equivalentTo"}
xref: GARD:0005743 {source="MONDO:equivalentTo"}
xref: ICDO:8200/3 {source="NCIT:C2970"}
xref: MESH:D003528 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2970 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"}
xref: ONCOTREE:ACYC {source="MONDO:equivalentTo"}
xref: UMLS:C0010606 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2970"}
is_a: MONDO:0004970 {source="DOID:0080202", source="MESH:D003528", source="MONDOLEX:0004971"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/11671000
property_value: exactMatch DOID:0080202
property_value: exactMatch http://identifiers.org/mesh/D003528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010606
property_value: exactMatch NCIT:C2970

[Term]
id: MONDO:0004972
name: adenoma
def: "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." [NCIT:C2855]
comment: Editor note: check status re benign
synonym: "acinar cell adenoma" EXACT [DOID:657]
synonym: "acinar cell adenoma (morphologic abnormality)" EXACT [DOID:657]
synonym: "acinic cell adenoma" EXACT [DOID:657]
synonym: "adenoma" EXACT [NCIT:C2855]
synonym: "adenoma, benign" NARROW [NCIT:C2855]
synonym: "adenomas" EXACT [DOID:657]
xref: DOID:657 {source="EFO:0000232", source="MONDO:equivalentTo"}
xref: EFO:0000232 {source="MONDO:equivalentTo"}
xref: ICDO:8140/0 {source="NCIT:C2855"}
xref: MESH:D000236 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"}
xref: NCIT:C2855 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"}
xref: SCTID:443416007 {source="DOID:657", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.45"}
xref: UMLS:C0001430 {source="DOID:657", source="MONDO:equivalentTo", source="NCIT:C2855"}
is_a: MONDO:0005626 {source="EFO:0000232", source="MESH:D000236", source="NCIT:C2855"} ! epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189578007
property_value: closeMatch http://identifiers.org/snomedct/189579004
property_value: closeMatch http://identifiers.org/snomedct/32048006
property_value: closeMatch http://identifiers.org/snomedct/79041005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334389
property_value: exactMatch DOID:657
property_value: exactMatch http://identifiers.org/mesh/D000236
property_value: exactMatch http://identifiers.org/snomedct/443416007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001430
property_value: exactMatch NCIT:C2855

[Term]
id: MONDO:0004973
name: adenosquamous lung carcinoma
def: "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." [NCIT:C9133]
synonym: "adenosquamous cell lung carcinoma" EXACT [NCIT:C9133]
synonym: "adenosquamous lung cancer" EXACT [NCIT:C9133]
synonym: "adenosquamous lung carcinoma" EXACT [DOID:4829, NCIT:C9133]
synonym: "lung adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4829 {source="EFO:0000233", source="MONDO:equivalentTo"}
xref: EFO:0000233 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9133 {source="EFO:0000233", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4829"}
xref: ONCOTREE:LUAS {source="MONDO:equivalentTo"}
xref: SCTID:707405009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0279557 {source="NCIT:C9133", source="MONDO:equivalentTo", source="DOID:4829"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0004973", source="NCIT:C9133", source="OWLReasoner:2017", source="linkedlifedata"} ! adenosquamous carcinoma
is_a: MONDO:0056806 ! non-small cell squamous lung carcinoma
property_value: exactMatch DOID:4829
property_value: exactMatch http://identifiers.org/snomedct/707405009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279557
property_value: exactMatch NCIT:C9133

[Term]
id: MONDO:0004974
name: adrenal gland pheochromocytoma
def: "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." [NCIT:C3326]
synonym: "adrenal gland chromaffin paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal gland Chromaffinoma" EXACT [NCIT:C3326]
synonym: "adrenal gland paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal gland pheochromocytoma" EXACT [NCIT:C3326]
synonym: "adrenal medullary paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal medullary pheochromocytoma" EXACT [NCIT:C3326]
synonym: "adrenal pheochromocytoma" EXACT [NCIT:C3326]
synonym: "chromaffin paraganglioma of the adrenal gland" EXACT [NCIT:C3326]
synonym: "Intraadrenal paraganglioma" EXACT [NCIT:C3326]
synonym: "PCC" EXACT [NCIT:C3326]
synonym: "pheochromocytoma" EXACT [NCIT:C3326]
synonym: "pheochromocytoma (adrenal)" EXACT [NCIT:C3326]
xref: DOID:0050892 {source="MONDO:equivalentTo", source="EFO:0000239"}
xref: EFO:0000239 {source="MONDO:equivalentTo"}
xref: ICDO:8700/0 {source="NCIT:C3326"}
xref: NCIT:C3326 {source="MONDO:equivalentTo", source="EFO:0000239"}
is_a: MONDO:0021072 {source="MONDOLEX:0004974", source="NCIT:C3326"} ! sympathetic paraganglioma
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C3326"} ! adrenal medulla neoplasm
property_value: closeMatch http://identifiers.org/mesh/D010673
property_value: closeMatch http://identifiers.org/snomedct/302835009
property_value: closeMatch http://identifiers.org/snomedct/85583005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031511
property_value: exactMatch DOID:0050892
property_value: exactMatch NCIT:C3326

[Term]
id: MONDO:0004975
name: Alzheimer disease
def: "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." [NCIT:P378]
synonym: "AD" EXACT [CSP2005:0485-6737, DOID:10652]
synonym: "Alzheimer dementia" EXACT [NCIT:C2866]
synonym: "Alzheimer disease" EXACT [DOID:10652, NCIT:C2866]
synonym: "Alzheimer disease, familial" NARROW [DOID:10652, MESH:C536597]
synonym: "Alzheimer's dementia" EXACT [NCIT:C2866]
synonym: "Alzheimer's disease" EXACT [NCIT:C2866]
synonym: "Alzheimers dementia" EXACT [DOID:10652, NCIT:C2866]
synonym: "Alzheimers disease" EXACT [DOID:10652]
xref: COHD:378419 {source="MONDO:equivalentTo"}
xref: DOID:10652 {source="MONDO:equivalentTo", source="EFO:0000249"}
xref: EFO:0000249 {source="MONDO:equivalentTo", source="DOID:10652"}
xref: GARD:0000632 {source="MONDO:superClassOf"}
xref: HP:0002511 {source="MONDO:otherHierarchy"}
xref: ICD10:G30 {source="MONDO:equivalentTo", source="DOID:10652"}
xref: ICD10:G30.9 {source="DOID:10652"}
xref: ICD9:290.1 {source="EFO:0000249"}
xref: ICD9:331.0 {source="EFO:0000249", source="DOID:10652"}
xref: KEGG:05010 {source="MONDO:equivalentTo", source="DOID:10652"}
xref: MESH:D000544 {source="MONDO:equivalentTo", source="EFO:0000249", source="MONDO:ontobio", source="DOID:10652"}
xref: NCIT:C2866 {source="MONDO:kboom-pr-1.00/0.84/14.97", source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"}
xref: NIFSTD:birnlex_2092 {source="EFO:0000249"}
xref: SCTID:142811000119104 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.46/0.17"}
xref: UMLS:C0002395 {source="MONDO:cjm", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="DOID:10652", source="NCIT:C2866"}
is_a: MONDO:0001627 {source="MESH:D000544", source="NCIT:C2866", source="linkedlifedata", source="linkedlifedata/inferred"} ! dementia (disease)
is_a: MONDO:0005574 {source="DOID:10652", source="MESH:D000544"} ! tauopathy
property_value: closeMatch http://identifiers.org/snomedct/12348006
property_value: closeMatch http://identifiers.org/snomedct/154998003
property_value: closeMatch http://identifiers.org/snomedct/15662003
property_value: closeMatch http://identifiers.org/snomedct/267688001
property_value: closeMatch http://identifiers.org/snomedct/26929004
property_value: closeMatch http://identifiers.org/snomedct/73768007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0276496
property_value: closeMatch NCIT:C34524
property_value: exactMatch DOID:10652
property_value: exactMatch http://identifiers.org/mesh/D000544
property_value: exactMatch http://identifiers.org/snomedct/142811000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002395
property_value: exactMatch NCIT:C2866
property_value: exactMatch NCIT:C38778

[Term]
id: MONDO:0004976
name: amyotrophic lateral sclerosis
def: "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." [Orphanet:803]
subset: ordo_disease {source="Orphanet:803"}
synonym: "ALS" EXACT [DOID:332, NCIT:C34373, Orphanet:803]
synonym: "Charcot disease" EXACT [Orphanet:803]
synonym: "Lou Gehrig disease" EXACT [Orphanet:803]
synonym: "Lou Gehrig's disease" EXACT [DOID:332]
synonym: "motor neuron disease, bulbar" EXACT [DOID:332, MTHICD9_2006:335.20]
xref: COHD:373182 {source="MONDO:equivalentTo"}
xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"}
xref: EFO:0000253 {source="MONDO:equivalentTo", source="DOID:332"}
xref: GARD:0005786 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:803/ntbt", source="Orphanet:803"}
xref: ICD10:G12.21 {source="MONDO:equivalentTo", source="DOID:332"}
xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="i2s", source="DOID:332"}
xref: KEGG:05014 {source="MONDO:equivalentTo", source="DOID:332"}
xref: MedDRA:10002026 {source="ORDO:803/e", source="Orphanet:803"}
xref: MESH:D000690 {source="EFO:0000253", source="ORDO:803/e", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332"}
xref: NCIT:C34373 {source="EFO:0000253", source="MONDO:equivalentTo", source="DOID:332", source="exact-label-match"}
xref: NIFSTD:birnlex_12566 {source="EFO:0000253"}
xref: OMIMPS:105400 {source="DOID:332"}
xref: Orphanet:803 {source="MONDO:equivalentTo", source="DOID:332"}
xref: SCTID:86044005 {source="EFO:0000253", source="MONDO:kboom-pr-1.00/0.78/7.33", source="MONDO:equivalentTo", source="DOID:332"}
xref: UMLS:C0002736 {source="NCIT:C34373", source="ORDO:803/e", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332"}
is_a: MONDO:0003182 {source="https://en.wikipedia.org/wiki/Anterior_horn_disease"} ! anterior horn disease
is_a: MONDO:0020128 {source="DOID:332", source="ICD10:G12.21", source="MESH:D000690", source="MONDO:Redundant", source="Orphanet:803"} ! motor neuron disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015918"} ! rare
property_value: exactMatch DOID:332
property_value: exactMatch http://identifiers.org/meddra/10002026
property_value: exactMatch http://identifiers.org/mesh/D000690
property_value: exactMatch http://identifiers.org/snomedct/86044005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002736
property_value: exactMatch NCIT:C34373
property_value: exactMatch Orphanet:803

[Term]
id: MONDO:0004977
name: angioimmunoblastic T-cell lymphoma
def: "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." [NCIT:C7528, PMID:22700722]
subset: gard_rare {source="GARD:0011973"}
subset: ordo_disease {source="Orphanet:86886"}
synonym: "AILD" EXACT [NCIT:C7528]
synonym: "AILT" EXACT [Orphanet:86886]
synonym: "AITL" RELATED [GARD:0011973, ONCOTREE:AITL]
synonym: "angioimmunoblastic lymphadenopathy" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic lymphadenopathy type T-cell lymphoma" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic lymphadenopathy with Dysproteinemia" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic T-cell lymphoma" EXACT [MONDO:0019477]
synonym: "immunoblastic lymphadenopathy" EXACT [Orphanet:86886]
synonym: "lymphogranulomatosis X" EXACT [Orphanet:86886]
synonym: "T-cell lymphoma, AILD type" EXACT [Orphanet:86886]
xref: DOID:0111147 {source="MONDO:equivalentTo"}
xref: EFO:0000255 {source="MONDO:equivalentTo"}
xref: GARD:0011973 {source="MONDO:equivalentTo"}
xref: GARD:11973 {source="DOID:0111147"}
xref: ICD10:C86.5 {source="ORDO:86886/e", source="Orphanet:86886", source="MONDO:equivalentTo", source="DOID:0111147"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9705/3 {source="NCIT:C7528"}
xref: ICDO:9767/1 {source="NCIT:C7528"}
xref: MEDDRA:10002449 {source="DOID:0111147"}
xref: MedDRA:10002449 {source="ORDO:86886/e", source="Orphanet:86886"}
xref: MESH:D007119 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7528 {source="EFO:0000255", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:0111147"}
xref: ONCOTREE:AITL {source="MONDO:equivalentTo"}
xref: Orphanet:86886 {source="MONDO:equivalentTo", source="DOID:0111147"}
xref: SCTID:413537009 {source="EFO:0000255", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0111147"}
xref: UMLS:C0020981 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:86886", source="MONDO:equivalentTo", source="NCIT:C7528", source="DOID:0111147"}
is_a: MONDO:0000430 {source="DOID:0111147", source="DOID:0111147/inferred", source="MONDO:Redundant", source="NCIT:C7528/inferred"} ! mature T-cell and NK-cell non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/127216000
property_value: closeMatch http://identifiers.org/snomedct/52097008
property_value: closeMatch http://identifiers.org/snomedct/835009
property_value: exactMatch DOID:0111147
property_value: exactMatch http://identifiers.org/meddra/10002449
property_value: exactMatch http://identifiers.org/mesh/D007119
property_value: exactMatch http://identifiers.org/snomedct/413537009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020981
property_value: exactMatch NCIT:C7528
property_value: exactMatch Orphanet:86886
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma xsd:anyURI {source="GARD:0011973"}

[Term]
id: MONDO:0004978
name: aortic stenosis
def: "In the same amount or manner; to the same degree; in the role, function, or capacity of." [NCIT:P378]
synonym: "aortic stenosis" EXACT [DOID:1712]
synonym: "aortic valve stenosis" RELATED [DOID:1712]
synonym: "AS" EXACT [DOID:1712]
synonym: "congenital aortic valve stenosis" EXACT EXCLUDE [DOID:1712]
synonym: "rheumatic aortic stenosis" EXACT [DOID:1712, ICD9CM_2006:395.0]
synonym: "rheumatic aortic valve stenosis" EXACT [DOID:1712]
xref: DOID:1712 {source="EFO:0000266", source="MONDO:equivalentTo"}
xref: EFO:0000266 {source="MONDO:equivalentTo"}
xref: ICD10:I06.0 {source="DOID:1712"}
xref: ICD10:Q23.0 {source="DOID:1712"}
xref: ICD9:395.0 {source="DOID:1712"}
xref: ICD9:746.3 {source="MONDO:relatedTo", source="DOID:1712"}
xref: UMLS:C0155567 {source="MONDO:equivalentTo", source="DOID:1712", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003803 {source="DOID:1712"} ! aortic valve disease
property_value: closeMatch http://identifiers.org/mesh/D001024
property_value: closeMatch http://identifiers.org/snomedct/155282009
property_value: closeMatch http://identifiers.org/snomedct/156922005
property_value: closeMatch http://identifiers.org/snomedct/390722003
property_value: closeMatch http://identifiers.org/snomedct/420503003
property_value: closeMatch http://identifiers.org/snomedct/72011007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003507
property_value: exactMatch DOID:1712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155567
property_value: exactMatch NCIT:C50462
property_value: exactMatch NCIT:C64938

[Term]
id: MONDO:0004979
name: asthma
def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." [EFO:0000270]
synonym: "bronchial hyperreactivity" EXACT [DOID:2841]
synonym: "chronic obstructive asthma" EXACT [DOID:2841]
synonym: "chronic obstructive asthma with acute exacerbation" NARROW [DOID:2841]
synonym: "chronic obstructive asthma with status asthmaticus" EXACT [DOID:2841]
synonym: "exercise induced asthma" NARROW [DOID:2841]
synonym: "exercise-induced asthma" NARROW [DOID:2841]
xref: COHD:317009 {source="MONDO:equivalentTo"}
xref: DOID:2841 {source="MONDO:equivalentTo", source="EFO:0000270"}
xref: EFO:0000270 {source="MONDO:equivalentTo", source="DOID:2841"}
xref: GARD:0010246 {source="MONDO:equivalentTo"}
xref: HP:0002099 {source="MONDO:otherHierarchy"}
xref: ICD10:J45 {source="MONDO:equivalentTo", source="DOID:2841"}
xref: ICD10:J45.90 {source="DOID:2841"}
xref: ICD10:J45.909 {source="DOID:2841"}
xref: ICD9:493 {source="DOID:2841", source="EFO:0000270"}
xref: ICD9:493.81 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:493.9 {source="DOID:2841"}
xref: KEGG:05310 {source="MONDO:equivalentTo", source="DOID:2841"}
xref: MESH:D001249 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"}
xref: NCIT:C28397 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"}
xref: SCTID:31387002 {source="MONDO:kboom-pr-0.90/0.77/0.32", source="MONDO:equivalentTo"}
xref: UMLS:C0004096 {source="NCIT:C28397", source="MONDO:equivalentTo", source="DOID:2841"}
is_a: MONDO:0001358 {source="DOID:2841", source="EFO:0000270", source="MESH:D001249"} ! bronchial disease
property_value: closeMatch http://identifiers.org/snomedct/155574008
property_value: closeMatch http://identifiers.org/snomedct/155579003
property_value: closeMatch http://identifiers.org/snomedct/187687003
property_value: closeMatch http://identifiers.org/snomedct/195967001
property_value: closeMatch http://identifiers.org/snomedct/195979001
property_value: closeMatch http://identifiers.org/snomedct/195983001
property_value: closeMatch http://identifiers.org/snomedct/21341004
property_value: closeMatch http://identifiers.org/snomedct/266365004
property_value: closeMatch http://identifiers.org/snomedct/266398009
property_value: closeMatch http://identifiers.org/snomedct/278517007
property_value: exactMatch DOID:2841
property_value: exactMatch http://identifiers.org/mesh/D001249
property_value: exactMatch http://identifiers.org/snomedct/31387002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004096
property_value: exactMatch NCIT:C28397

[Term]
id: MONDO:0004980
name: atopic eczema
def: "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." [MESH:D003876]
synonym: "allergic" EXACT [DOID:3310]
synonym: "allergic dermatitis" EXACT [CSP2005:2716-6917, CSP2005:2716-6989, DOID:3310]
synonym: "allergic form of dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "Atopic dermatitis" EXACT [DOID:3310]
synonym: "atopic eczema" EXACT [DOID:3310]
synonym: "Atopic neurodermatitis" EXACT [DOID:3310]
synonym: "Besnier's prurigo" EXACT [DOID:3310, MTHICD9_2006:691.8]
synonym: "eczema" EXACT [NCIT:C3001]
synonym: "eczema" RELATED [NCIT:C3001]
synonym: "eczematous dermatitis" EXACT [NCIT:C3001]
xref: DOID:3310 {source="EFO:0000274", source="MONDO:equivalentTo"}
xref: EFO:0000274 {source="DOID:3310", source="MONDO:equivalentTo"}
xref: ICD10:L20 {source="DOID:3310"}
xref: ICD10:L20.81 {source="DOID:3310"}
xref: ICD10:L20.9 {source="DOID:3310"}
xref: ICD9:691 {source="EFO:0000274"}
xref: ICD9:691.8 {source="EFO:0000274"}
xref: NCIT:C3001 {source="MONDO:equivalentTo"}
xref: OMIMPS:603165 {source="DOID:3310", source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="DOID:3310", source="MONDO:Redundant", source="NCIT:C3001"} ! dermatitis
is_a: MONDO:0005271 {source="EFO:0000274", source="MONDO:Redundant"} ! allergic disease
is_a: MONDO:0006501 {source="EFO:0000274"} ! inflammatory skin disease
property_value: closeMatch http://identifiers.org/mesh/D003876
property_value: closeMatch http://identifiers.org/snomedct/156331003
property_value: closeMatch http://identifiers.org/snomedct/200772001
property_value: closeMatch http://identifiers.org/snomedct/200775004
property_value: closeMatch http://identifiers.org/snomedct/200779005
property_value: closeMatch http://identifiers.org/snomedct/24079001
property_value: closeMatch http://identifiers.org/snomedct/90823000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011615
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013595
property_value: exactMatch DOID:3310
property_value: exactMatch NCIT:C3001

[Term]
id: MONDO:0004981
name: atrial fibrillation (disease)
def: "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" [NCIT:P378]
synonym: "A-fib" EXACT [DOID:0060224]
synonym: "AF" EXACT [NCIT:C50466]
synonym: "AFib" EXACT [NCIT:C50466]
synonym: "atrial fibrillation" EXACT [MONDO:ambiguous]
xref: COHD:313217 {source="MONDO:equivalentTo"}
xref: DOID:0060224 {source="EFO:0000275", source="MONDO:equivalentTo"}
xref: EFO:0000275 {source="MONDO:equivalentTo"}
xref: HP:0005110 {source="DOID:0060224", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I48 {source="DOID:0060224"}
xref: ICD9:427.31 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C50466 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:49436004 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0004238 {source="DOID:0060224", source="MONDO:equivalentTo", source="NCIT:C50466"}
is_a: MONDO:0007263 {source="EFO:0000275", source="NCIT:C50466", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease
property_value: closeMatch http://identifiers.org/mesh/D001281
property_value: closeMatch http://identifiers.org/snomedct/155364009
property_value: closeMatch http://identifiers.org/snomedct/266306001
property_value: exactMatch DOID:0060224
property_value: exactMatch http://identifiers.org/snomedct/49436004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004238
property_value: exactMatch NCIT:C50466

[Term]
id: MONDO:0004982
name: pancreatitis
def: "Inflammation of the pancreas." [NCIT:C3306]
synonym: "inflammation of pancreas" EXACT []
synonym: "pancreas inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:4989 {source="MONDO:equivalentTo", source="EFO:0000278"}
xref: EFO:0000278 {source="MONDO:equivalentTo", source="DOID:4989"}
xref: ICD10:K85.9 {source="DOID:4989"}
xref: MESH:D010195 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989", source="MONDO:ontobio"}
xref: NCIT:C3306 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989", source="exact-label-match"}
xref: SCTID:75694006 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0030305 {source="MONDO:equivalentTo", source="DOID:4989", source="NCIT:C3306"}
is_a: MONDO:0002356 {source="DOID:4989", source="MESH:D010195", source="MONDO:Redundant", source="NCIT:C3306/inferred", source="linkedlifedata"} ! pancreas disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/197461009
property_value: closeMatch http://identifiers.org/snomedct/393591004
property_value: exactMatch DOID:4989
property_value: exactMatch http://identifiers.org/mesh/D010195
property_value: exactMatch http://identifiers.org/snomedct/75694006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030305
property_value: exactMatch NCIT:C3306

[Term]
id: MONDO:0004983
name: azoospermia
def: "Complete absence of spermatozoa in the semen." [NCIT:P378]
synonym: "spermatogenic failure" EXACT [DOID:14227]
xref: COHD:4143116 {source="MONDO:equivalentTo"}
xref: DOID:14227 {source="EFO:0000279", source="MONDO:equivalentTo"}
xref: EFO:0000279 {source="MONDO:equivalentTo", source="DOID:14227"}
xref: ICD10:N46.0 {source="DOID:14227"}
xref: ICD10:N46.01 {source="DOID:14227"}
xref: ICD9:606.0 {source="EFO:0000279", source="MONDO:equivalentTo", source="i2s", source="DOID:14227"}
xref: MESH:D053713 {source="EFO:0000279", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14227"}
xref: OMIMPS:258150 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:425558002 {source="EFO:0000279", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34", source="DOID:14227"}
xref: UMLS:C0004509 {source="MONDO:equivalentTo", source="DOID:14227"}
is_a: MONDO:0005372 {source="DOID:14227", source="MESH:D053713"} ! male infertility
property_value: closeMatch http://identifiers.org/snomedct/145008007
property_value: closeMatch http://identifiers.org/snomedct/155925000
property_value: closeMatch http://identifiers.org/snomedct/167781002
property_value: closeMatch http://identifiers.org/snomedct/198010009
property_value: closeMatch http://identifiers.org/snomedct/48188009
property_value: exactMatch DOID:14227
property_value: exactMatch http://identifiers.org/mesh/D053713
property_value: exactMatch http://identifiers.org/snomedct/425558002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004509
property_value: exactMatch NCIT:C80076

[Term]
id: MONDO:0004984
name: basal-like breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." [NCIT:C53558]
synonym: "basal-like breast cancer" EXACT [NCIT:C53558]
synonym: "basal-like breast carcinoma" EXACT [NCIT:C53558]
synonym: "basal-like subtype of breast carcinoma" EXACT [NCIT:C53558]
xref: EFO:0000281 {source="MONDO:equivalentTo"}
xref: NCIT:C53558 {source="MONDO:equivalentTo", source="EFO:0000281"}
xref: UMLS:C3642347 {source="NCIT:C53558", source="MONDO:equivalentTo"}
is_a: MONDO:0004953 {source="EFO:0000281"} ! invasive ductal breast carcinoma
is_a: MONDO:0005494 ! triple-negative breast carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642347
property_value: exactMatch NCIT:C53558

[Term]
id: MONDO:0004985
name: bipolar disorder
def: "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." [NCIT:C34423]
synonym: "bipolar affective disorder" RELATED []
synonym: "bipolar depression" EXACT [CSP2005:2483-6684, DOID:3312]
synonym: "bipolar disorder" EXACT [NCIT:C34423]
synonym: "bipolar disorder manic phase" NARROW [CSP2005:2483-6691, DOID:3312]
synonym: "depressive-manic psych." RELATED [DOID:3312]
synonym: "MAFD" RELATED []
synonym: "major affective disorder" EXACT [MONDO:0000055]
synonym: "major bipolar affective disorder" RELATED []
synonym: "manic bipolar affective disorder" NARROW [DOID:3312, NCIT:C34805]
synonym: "manic bipolar I disorder" NARROW [DOID:3312]
synonym: "manic depression" NARROW [DOID:3312]
synonym: "manic depressive disorder" EXACT [NCIT:C34423]
synonym: "manic depressive disorder" NARROW [DOID:3312, NCIT:C34423]
synonym: "manic disorder" NARROW [DOID:3312]
synonym: "manic-depression" EXACT [NCIT:C34423]
synonym: "manic-depressive illness" RELATED []
synonym: "manic-depressive psychosis" RELATED []
synonym: "mixed bipolar disorder" NARROW [DOID:3312]
xref: COHD:436665 {source="MONDO:equivalentTo"}
xref: DC:0000264 {source="MONDO:equivalentTo"}
xref: DOID:3312 {source="MONDO:equivalentTo", source="EFO:0000289"}
xref: EFO:0000289 {source="DOID:3312", source="MONDO:equivalentTo"}
xref: ICD10:F31 {source="DOID:3312", source="MONDO:equivalentTo"}
xref: ICD10:F31.9 {source="DOID:3312"}
xref: ICD9:296.40 {source="DOID:3312"}
xref: ICD9:296.60 {source="DOID:3312"}
xref: ICD9:296.80 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289", source="i2s"}
xref: ICD9:296.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001714 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: NCIT:C34423 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: NIFSTD:birnlex_12754 {source="EFO:0000289"}
xref: SCTID:13746004 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: UMLS:C0005586 {source="DOID:3312", source="MONDO:equivalentTo", source="NCIT:C34423"}
is_a: MONDO:0005371 {source="DOID:3312", source="EFO:0000289", source="ICD10:F31", source="NCIT:C34423", source="NCIT:C34805/inferred", source="linkedlifedata"} ! mood disorder
relationship: disease_has_feature MONDO:0004617 {source="Wikidata"} ! recurrent hypersomnia
property_value: closeMatch http://identifiers.org/snomedct/154871001
property_value: closeMatch http://identifiers.org/snomedct/16506000
property_value: closeMatch http://identifiers.org/snomedct/191646009
property_value: closeMatch http://identifiers.org/snomedct/191647000
property_value: closeMatch http://identifiers.org/snomedct/191654006
property_value: closeMatch http://identifiers.org/snomedct/192355004
property_value: closeMatch http://identifiers.org/snomedct/192365005
property_value: closeMatch http://identifiers.org/snomedct/268749008
property_value: closeMatch http://identifiers.org/snomedct/68569003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005587
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024713
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236780
property_value: exactMatch DOID:3312
property_value: exactMatch http://identifiers.org/mesh/D001714
property_value: exactMatch http://identifiers.org/snomedct/13746004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005586
property_value: exactMatch NCIT:C34423

[Term]
id: MONDO:0004986
name: urinary bladder carcinoma
def: "A carcinoma that arises from epithelial cells of the urinary bladder" [MONDO:DesignPattern]
synonym: "bladder cancer" BROAD [NCIT:C4912]
synonym: "bladder carcinoma" EXACT [MONDO:ambiguous, NCIT:C4912]
synonym: "cancer of bladder" BROAD [NCIT:C4912]
synonym: "cancer of the bladder" BROAD [NCIT:C4912]
synonym: "cancer of the urinary bladder" BROAD [NCIT:C4912]
synonym: "cancer of urinary bladder" BROAD [NCIT:C4912]
synonym: "carcinoma bladder" EXACT [DOID:4007]
synonym: "carcinoma of bladder" EXACT [DOID:4007, MTH:108, NCIT:C4912]
synonym: "carcinoma of the bladder" EXACT [NCIT:C4912]
synonym: "carcinoma of the urinary bladder" EXACT [NCIT:C4912]
synonym: "carcinoma of urinary bladder" EXACT [DOID:4007, MONDO:patterns/carcinoma, NCIT:C4912]
synonym: "urinary bladder cancer" BROAD [NCIT:C4912]
synonym: "urinary bladder carcinoma" EXACT [MONDO:patterns/location, NCIT:C4912]
xref: DOID:4007 {source="MONDO:equivalentTo", source="EFO:0000292"}
xref: EFO:0000292 {source="MONDO:equivalentTo", source="DOID:4007"}
xref: HP:0002862 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C4912 {source="MONDO:kboom-pr-0.96/0.76/2.17", source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292"}
xref: SCTID:255108000 {source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292", source="MONDO:kboom-pr-0.97/0.92/0.83"}
xref: UMLS:C0699885 {source="MONDO:equivalentTo", source="DOID:4007", source="NCIT:C4912"}
is_a: MONDO:0001187 {source="DOID:4007", source="MONDO:Redundant", source="MONDOLEX:0004986", source="NCIT:C4912", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder cancer
is_a: MONDO:0004993 {source="DOID:4007", source="EFO:0000292", source="MONDO:Redundant", source="MONDOLEX:0004986", source="NCIT:C4912", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoma
property_value: closeMatch http://identifiers.org/mesh/D001749
property_value: closeMatch http://identifiers.org/snomedct/154540000
property_value: closeMatch http://identifiers.org/snomedct/269607003
property_value: exactMatch DOID:4007
property_value: exactMatch http://identifiers.org/snomedct/255108000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699885
property_value: exactMatch NCIT:C4912

[Term]
id: MONDO:0004987
name: urinary bladder neoplasm
def: "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" [NCIT:C2901]
synonym: "bladder neoplasm" EXACT [MONDO:DesignPattern, NCIT:C2901]
synonym: "bladder tumor" EXACT [NCIT:C2901]
synonym: "bladder tumors" EXACT [NCIT:C2901]
synonym: "neoplasm of bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of the bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of the urinary bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "tumor of bladder" EXACT [NCIT:C2901]
synonym: "tumor of the bladder" EXACT [NCIT:C2901]
synonym: "tumor of the urinary bladder" EXACT [NCIT:C2901]
synonym: "tumor of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "urinary bladder neoplasm" EXACT [NCIT:C2901]
synonym: "urinary bladder neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urinary bladder neoplasms" EXACT [NCIT:C2901]
synonym: "urinary bladder tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "urinary bladder tumors" EXACT [NCIT:C2901]
xref: COHD:200680 {source="MONDO:equivalentTo"}
xref: EFO:0000294 {source="MONDO:equivalentTo"}
xref: ICD9:239.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2901 {source="EFO:0000294", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: SCTID:126885006 {source="EFO:0000294", source="MONDO:kboom-pr-0.78/0.39/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0005695 {source="NCIT:C2901", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006026 {source="MONDO:Redundant", source="NCIT:C2901", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary bladder disease
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C2901", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary system neoplasm
property_value: closeMatch http://identifiers.org/mesh/D001749
property_value: exactMatch http://identifiers.org/snomedct/126885006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005695
property_value: exactMatch NCIT:C2901

[Term]
id: MONDO:0004988
name: breast adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the breast" [MONDO:DesignPattern]
synonym: "adenocarcinoma of breast" EXACT [DOID:3458, NCIT:C5214]
synonym: "adenocarcinoma of the breast" EXACT [NCIT:C5214]
synonym: "breast adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5214]
synonym: "mammary adenocarcinoma" EXACT [DOID:3458, NCIT:C5214]
xref: DOID:3458 {source="MONDO:equivalentTo", source="EFO:0000304"}
xref: EFO:0000304 {source="MONDO:equivalentTo"}
xref: NCIT:C5214 {source="DOID:3458", source="MONDO:equivalentTo", source="EFO:0000304", source="exact-label-match"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0004970 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="MONDOLEX:0004988", source="NCIT:C5214"} ! adenocarcinoma
is_a: MONDO:0004989 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="MONDOLEX:0004988", source="NCIT:C5214"} ! breast carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0858252
property_value: exactMatch DOID:3458
property_value: exactMatch NCIT:C5214

[Term]
id: MONDO:0004989
name: breast carcinoma
def: "A carcinoma that arises from epithelial cells of the breast" [MONDO:DesignPattern]
synonym: "breast cancer" BROAD [NCIT:C4872]
synonym: "breast cancer, NOS" BROAD [NCIT:C4872]
synonym: "breast carcinoma" EXACT [MONDO:patterns/location, NCIT:C4872]
synonym: "cancer of breast" BROAD [NCIT:C4872]
synonym: "cancer of the breast" BROAD [NCIT:C4872]
synonym: "cancer, breast" BROAD [NCIT:C4872]
synonym: "carcinoma of breast" EXACT [DOID:3459, MONDO:patterns/carcinoma, NCIT:C4872]
synonym: "carcinoma of the breast" EXACT [NCIT:C4872]
synonym: "mammary carcinoma" EXACT [DOID:3459, NCIT:C4872]
xref: DOID:3459 {source="MONDO:equivalentTo", source="EFO:0000305"}
xref: EFO:0000305 {source="MONDO:equivalentTo", source="DOID:3459"}
xref: NCIT:C4872 {source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"}
xref: SCTID:254838004 {source="MONDO:kboom-pr-0.97/0.92/0.66", source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"}
xref: UMLS:C0678222 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4872", source="DOID:3459"}
is_a: MONDO:0004993 {source="DOID:3459", source="EFO:0000305", source="MONDO:Redundant", source="MONDOLEX:0004989", source="NCIT:C4872", source="linkedlifedata"} ! carcinoma
is_a: MONDO:0007254 {source="DOID:3459", source="MONDO:Redundant", source="MONDOLEX:0004989", source="NCIT:C4872", source="linkedlifedata"} ! breast cancer
property_value: closeMatch http://identifiers.org/snomedct/154513000
property_value: closeMatch http://identifiers.org/snomedct/286898006
property_value: exactMatch DOID:3459
property_value: exactMatch http://identifiers.org/snomedct/254838004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678222
property_value: exactMatch NCIT:C4872

[Term]
id: MONDO:0004990
name: breast tumor luminal A or B
def: "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." [NCIT:C53554, NCIT:C53555]
synonym: "breast tumor luminal" EXACT [DOID:0060548]
synonym: "luminal breast cancer" EXACT [DOID:0060548]
synonym: "luminal breast carcinoma" RELATED [DOID:0060548]
xref: DOID:0060548 {source="MONDO:equivalentTo"}
xref: EFO:0000306 {source="MONDO:equivalentTo", source="DOID:0060548"}
is_a: MONDO:0006116 {source="NCIT:C53555"} ! breast carcinoma by gene expression profile
property_value: exactMatch DOID:0060548

[Term]
id: MONDO:0004991
name: minimally invasive lung adenocarcinoma
def: "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." [NCIT:C2923, NCIT:P378]
synonym: "bac" EXACT [NCIT:C2923]
synonym: "bronchioalveolar adenocarcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchioalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchioalveolar lung carcinoma" EXACT [DOID:4926, NCIT:C2923]
synonym: "bronchiolo-alveolar adenocarcinoma" RELATED [DOID:4926]
synonym: "bronchiolo-alveolar carcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchiolo-alveolar carcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchiolo-alveolar lung carcinoma" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar adenocarcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar carcinoma" EXACT [DOID:4926, NCIT:C2923]
synonym: "bronchioloalveolar lung adenocarcinoma" EXACT [NCIT:C2923]
synonym: "carcinoma, bronchioloalveolar, malignant" EXACT [NCIT:C2923]
synonym: "minimally invasive lung adenocarcinoma" EXACT [DOID:4926, NCIT:C2923]
xref: DOID:4926 {source="MONDO:equivalentTo", source="EFO:0000308"}
xref: EFO:0000308 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8250/3 {source="NCIT:C2923"}
xref: ICDO:8251/3 {source="NCIT:C2923"}
xref: MESH:D002282 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4926", source="EFO:0000308"}
xref: NCIT:C2923 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"}
xref: SCTID:373627005 {source="MONDO:kboom-pr-1.00/0.75/7.19", source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"}
is_a: MONDO:0005061 {source="DOID:4926", source="MONDOLEX:0004991", source="NCIT:C2923", source="linkedlifedata/inferred"} ! lung adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/112677002
property_value: closeMatch http://identifiers.org/snomedct/307595008
property_value: closeMatch http://identifiers.org/snomedct/36310008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007120
property_value: exactMatch DOID:4926
property_value: exactMatch http://identifiers.org/mesh/D002282
property_value: exactMatch http://identifiers.org/snomedct/373627005
property_value: exactMatch NCIT:C2923

[Term]
id: MONDO:0004992
name: cancer
def: "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." [NCIT:C9305]
synonym: "CA" EXACT [NCIT:C9305]
synonym: "cancer" EXACT [NCIT:C9305]
synonym: "cell type cancer" EXACT [MONDO:0000404]
synonym: "malignancy" EXACT [NCIT:C9305]
synonym: "malignant Growth" EXACT [NCIT:C9305]
synonym: "malignant neoplasm" EXACT [DOID:162, NCIT:C9305]
synonym: "malignant neoplasm (disease)" EXACT []
synonym: "malignant neoplastic disease" EXACT [NCIT:C9305]
synonym: "malignant tumor" EXACT [DOID:162, NCIT:C9305]
synonym: "MT" RELATED [ONCOTREE:MT]
synonym: "neoplasm (disease), malignant" EXACT [MONDO:patterns/malignant]
synonym: "neoplasm, malignant" EXACT [NCIT:C9305]
synonym: "organ system cancer" EXACT [MONDO:0000403]
synonym: "primary cancer" EXACT [DOID:162]
xref: COHD:443392 {source="MONDO:equivalentTo"}
xref: DOID:0050686 {source="MONDO:equivalentTo"}
xref: DOID:0050687 {source="MONDO:equivalentTo"}
xref: DOID:162 {source="MONDO:equivalentTo", source="EFO:0000311"}
xref: EFO:0000311 {source="MONDO:equivalentTo"}
xref: GARD:0011960 {source="MONDO:equivalentTo"}
xref: ICD10:C80 {source="DOID:162"}
xref: ICD10:C80.1 {source="DOID:162"}
xref: ICD9:195.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:199 {source="DOID:162"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8000/3 {source="NCIT:C9305"}
xref: NCIT:C9305 {source="MONDO:equivalentTo", source="EFO:0000311", source="DOID:162"}
xref: NIFSTD:birnlex_406 {source="EFO:0000311"}
xref: ONCOTREE:MT {source="MONDO:equivalentTo"}
xref: SCTID:363346000 {source="MONDO:equivalentTo", source="DOID:162"}
xref: UMLS:C0006826 {source="MONDO:equivalentTo", source="NCIT:C9305", source="DOID:162"}
is_a: MONDO:0005070 {source="DOID:0050686/inferred", source="DOID:0050687/inferred", source="DOID:162", source="EFO:0000311", source="MONDO:Redundant", source="MONDOLEX:0004992", source="NCIT:C9305/inferred", source="linkedlifedata"} ! neoplasm (disease)
disjoint_from: MONDO:0005165 ! benign neoplasm
property_value: closeMatch http://identifiers.org/mesh/D009371
property_value: closeMatch http://identifiers.org/snomedct/154432008
property_value: closeMatch http://identifiers.org/snomedct/154433003
property_value: closeMatch http://identifiers.org/snomedct/154577008
property_value: closeMatch http://identifiers.org/snomedct/187597000
property_value: closeMatch http://identifiers.org/snomedct/188475001
property_value: closeMatch http://identifiers.org/snomedct/188482002
property_value: closeMatch http://identifiers.org/snomedct/190150006
property_value: closeMatch http://identifiers.org/snomedct/269513004
property_value: closeMatch http://identifiers.org/snomedct/269623003
property_value: closeMatch http://identifiers.org/snomedct/269626006
property_value: closeMatch http://identifiers.org/snomedct/269634000
property_value: closeMatch http://identifiers.org/snomedct/38807002
property_value: exactMatch DOID:0050686
property_value: exactMatch DOID:0050687
property_value: exactMatch DOID:162
property_value: exactMatch http://identifiers.org/snomedct/363346000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006826
property_value: exactMatch NCIT:C9305

[Term]
id: MONDO:0004993
name: carcinoma
def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." [NCIT:C2916]
synonym: "carcinoma" EXACT [NCIT:C2916]
synonym: "carcinoma, malignant" EXACT [NCIT:C2916]
synonym: "carcinoma, NOS" RELATED EXCLUDE [NCIT:C2916]
synonym: "epithelial carcinoma" EXACT [NCIT:C2916]
synonym: "epithelioma" EXACT [CSP2005:2000-5801, DOID:305]
synonym: "epithelioma malignant" EXACT [NCIT:C2916]
synonym: "malignant epithelial neoplasm" EXACT [NCIT:C2916]
synonym: "malignant epithelial tumor" EXACT [NCIT:C2916]
synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916, NCIT:C6927]
synonym: "Other carcinoma" EXACT [NCIT:C2916]
xref: CSP:2000-1867 {source="DOID:305"}
xref: DOID:305 {source="MONDO:equivalentTo", source="EFO:0000313"}
xref: EFO:0000313 {source="MONDO:equivalentTo"}
xref: ICDO:8010/3 {source="NCIT:C2916"}
xref: ICDO:8011/3 {source="NCIT:C2916"}
xref: MESH:D002277 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"}
xref: NCIT:C2916 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"}
xref: SCTID:722688002 {source="MONDO:equivalentTo"}
xref: UMLS:C0007097 {source="DOID:305", source="NCIT:C2916", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:305", source="DOID:305/inferred", source="EFO:0000313", source="MONDO:Redundant", source="MONDOLEX:0004993", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cancer
is_a: MONDO:0005626 {source="MESH:D002277", source="MONDO:Redundant", source="MONDOLEX:0004993", source="NCIT:C2916", source="OWLReasoner:2017"} ! epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/118285006
property_value: closeMatch http://identifiers.org/snomedct/134207000
property_value: closeMatch http://identifiers.org/snomedct/154433003
property_value: closeMatch http://identifiers.org/snomedct/188083002
property_value: closeMatch http://identifiers.org/snomedct/189546004
property_value: closeMatch http://identifiers.org/snomedct/189549006
property_value: closeMatch http://identifiers.org/snomedct/189559007
property_value: closeMatch http://identifiers.org/snomedct/269513004
property_value: closeMatch http://identifiers.org/snomedct/68453008
property_value: closeMatch http://identifiers.org/snomedct/71298006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0553707
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368683
property_value: exactMatch DOID:305
property_value: exactMatch http://identifiers.org/mesh/D002277
property_value: exactMatch http://identifiers.org/snomedct/722688002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007097
property_value: exactMatch NCIT:C2916

[Term]
id: MONDO:0004994
name: cardiomyopathy
def: "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." [NCIT:C34830]
subset: ordo_group_of_disorders {source="Orphanet:167848"}
synonym: "Cardiomyopathies" EXACT [DOID:0050700, MESH:D009202]
synonym: "cardiomyopathy" EXACT [MONDO:0015670]
xref: COHD:321319 {source="MONDO:equivalentTo"}
xref: DOID:0050700 {source="MONDO:equivalentTo", source="EFO:0000318"}
xref: EFO:0000318 {source="MONDO:equivalentTo"}
xref: GARD:0011958 {source="MONDO:equivalentTo"}
xref: ICD10:I42 {source="DOID:0050700", source="MONDO:equivalentTo"}
xref: ICD10:I42.9 {source="DOID:0050700"}
xref: ICD10:I51.5 {source="DOID:0050700"}
xref: ICD9:425 {source="DOID:0050700", source="EFO:0000318"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:425.9 {source="DOID:0050700"}
xref: MedDRA:10007636 {source="ORDO:167848/e", source="Orphanet:167848"}
xref: MESH:D009202 {source="DOID:0050700", source="MONDO:equivalentTo", source="ORDO:167848/e", source="EFO:0000318", source="Orphanet:167848"}
xref: NCIT:C34830 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"}
xref: Orphanet:167848 {source="MONDO:equivalentTo"}
xref: SCTID:85898001 {source="DOID:0050700", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000318"}
xref: UMLS:C0878544 {source="DOID:0050700", source="MONDO:equivalentTo", source="ORDO:167848/e", source="NCIT:C34830", source="Orphanet:167848"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0005267 {source="Orphanet:167848"} ! heart disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019996"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155351008
property_value: closeMatch http://identifiers.org/snomedct/155353006
property_value: closeMatch http://identifiers.org/snomedct/195035002
property_value: closeMatch http://identifiers.org/snomedct/195037005
property_value: closeMatch http://identifiers.org/snomedct/20072003
property_value: closeMatch http://identifiers.org/snomedct/266244008
property_value: closeMatch http://identifiers.org/snomedct/266301006
property_value: closeMatch http://identifiers.org/snomedct/89461002
property_value: closeMatch http://identifiers.org/snomedct/89600009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033141
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036529
property_value: exactMatch DOID:0050700
property_value: exactMatch http://identifiers.org/meddra/10007636
property_value: exactMatch http://identifiers.org/mesh/D009202
property_value: exactMatch http://identifiers.org/snomedct/85898001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878544
property_value: exactMatch NCIT:C34830
property_value: exactMatch Orphanet:167848

[Term]
id: MONDO:0004995
name: cardiovascular disease
def: "A disease involving the cardiovascular system." [MONDO:DesignPattern]
synonym: "cardiovascular disease" EXACT [DOID:1287, NCIT:C2931]
synonym: "cardiovascular disease (CVD)" EXACT [NCIT:C2931]
synonym: "cardiovascular disorder" EXACT [NCIT:C2931]
synonym: "cardiovascular system disease" EXACT [MONDO:patterns/location]
synonym: "cardiovascular system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "circulatory system disease" RELATED [MONDO:cjm]
synonym: "disease of cardiovascular system" EXACT [MONDO:patterns/location_top]
synonym: "disease of subdivision of hemolymphoid system" EXACT [DOID:1287]
synonym: "disease or disorder of cardiovascular system" EXACT []
synonym: "disorder of cardiovascular system" EXACT [MONDO:patterns/location_top, NCIT:C2931]
synonym: "disorder of cardiovascular system" RELATED [MONDO:patterns/location_top]
xref: DOID:1287 {source="MONDO:equivalentTo", source="EFO:0000319"}
xref: EFO:0000319 {source="MONDO:equivalentTo"}
xref: ICD10:I00.I99 {source="MONDO:equivalentTo"}
xref: ICD9:390-459.99 {source="EFO:0000319"}
xref: ICD9:420-429.99 {source="EFO:0000319"}
xref: ICD9:423 {source="EFO:0000319"}
xref: ICD9:423.8 {source="EFO:0000319"}
xref: ICD9:424 {source="EFO:0000319"}
xref: ICD9:429 {source="EFO:0000319"}
xref: ICD9:429.2 {source="DOID:1287", source="MONDO:equivalentTo", source="i2s", source="EFO:0000319"}
xref: ICD9:429.7 {source="EFO:0000319"}
xref: ICD9:429.8 {source="EFO:0000319"}
xref: ICD9:429.81 {source="EFO:0000319"}
xref: ICD9:429.89 {source="EFO:0000319"}
xref: ICD9:459.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:459.9 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000319"}
xref: MESH:D002318 {source="DOID:1287", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000319"}
xref: NCIT:C2931 {source="DOID:1287", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000319"}
xref: SCTID:49601007 {source="DOID:1287", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.10", source="EFO:0000319"}
xref: UMLS:C0007222 {source="DOID:1287", source="MONDO:equivalentTo", source="NCIT:C2931"}
is_a: MONDO:0021199 {source="DOID:1287", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/105980002
property_value: closeMatch http://identifiers.org/snomedct/155263000
property_value: closeMatch http://identifiers.org/snomedct/194707003
property_value: closeMatch http://identifiers.org/snomedct/195139006
property_value: closeMatch http://identifiers.org/snomedct/195594006
property_value: closeMatch http://identifiers.org/snomedct/266275004
property_value: closeMatch http://identifiers.org/snomedct/266336005
property_value: exactMatch DOID:1287
property_value: exactMatch http://identifiers.org/mesh/D002318
property_value: exactMatch http://identifiers.org/snomedct/49601007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007222
property_value: exactMatch NCIT:C2931

[Term]
id: MONDO:0004996
name: childhood acute myeloid leukemia
def: "Acute myeloid leukemia occurring in childhood." [NCIT:C9160]
synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C9160]
synonym: "acute myeloid leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood acute granulocytic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myeloblastic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myelocytic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myelogenous leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myeloid leukaemia" EXACT [DOID:0070323]
synonym: "childhood acute myeloid leukemia" EXACT [NCIT:C9160]
synonym: "childhood AML" EXACT [NCIT:C9160]
synonym: "paediatric acute myeloid leukaemia" EXACT [DOID:0070323]
synonym: "pediatric acute myeloblastic leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myelocytic leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myelogenous leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323, MONDO:patterns/childhood, NCIT:C9160]
synonym: "pediatric acute myeloid leukemia" RELATED [MONDO:patterns/childhood]
synonym: "pediatric AML" EXACT [NCIT:C9160]
xref: DOID:0070323 {source="MONDO:equivalentTo"}
xref: EFO:0000330 {source="MONDO:equivalentTo"}
xref: ICDO:M9861/3 {source="DOID:0070323"}
xref: NCIT:C9160 {source="EFO:0000330", source="MONDO:equivalentTo", source="DOID:0070323"}
xref: UMLS:C0220621 {source="MONDO:equivalentTo", source="NCIT:C9160"}
is_a: MONDO:0004355 {source="DOID:0070323", source="MONDO:Redundant", source="MONDOLEX:0004996", source="NCIT:C9160"} ! childhood leukemia
is_a: MONDO:0011118 {source="EFO:0000330"} ! bilineal acute myeloid leukemia
property_value: exactMatch DOID:0070323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220621
property_value: exactMatch NCIT:C9160

[Term]
id: MONDO:0004997
name: chondroblastoma (disease)
def: "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." [NCIT:P378]
synonym: "CHBL" RELATED [ONCOTREE:CHBL]
synonym: "chondroblastoma" EXACT [MONDO:ambiguous, NCIT:C2945]
synonym: "chondroblastoma of bone" EXACT [DOID:2649]
xref: DOID:2649 {source="EFO:0000331", source="MONDO:equivalentTo"}
xref: EFO:0000331 {source="MONDO:equivalentTo"}
xref: GARD:0006047 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0030432 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9230/0 {source="NCIT:C2945"}
xref: MESH:D002804 {source="EFO:0000331", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2649"}
xref: NCIT:C2945 {source="EFO:0000331", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2649"}
xref: ONCOTREE:CHBL {source="MONDO:equivalentTo"}
xref: UMLS:C0008441 {source="NCIT:C2945", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:2649"}
is_a: MONDO:0000631 {source="NCIT:C2945"} ! bone benign neoplasm
is_a: MONDO:0024470 {source="NCIT:C2945"} ! benign chondrogenic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/134337007
property_value: closeMatch http://identifiers.org/snomedct/189887007
property_value: closeMatch http://identifiers.org/snomedct/9001003
property_value: exactMatch DOID:2649
property_value: exactMatch http://identifiers.org/mesh/D002804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008441
property_value: exactMatch NCIT:C2945

[Term]
id: MONDO:0004998
name: obsolete chondromyxoid fibroma
is_obsolete: true
replaced_by: MONDO:0018447

[Term]
id: MONDO:0004999
name: obsolete chondrosarcoma
is_obsolete: true
replaced_by: MONDO:0008977

[Term]
id: MONDO:0005000
name: obsolete chromophobe renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0017885

[Term]
id: MONDO:0005001
name: chronic gastritis (disease)
def: "Inflammation of the stomach that is chronic in nature." [NCIT:P378]
synonym: "chronic gastritis" EXACT [MONDO:ambiguous]
synonym: "gastritis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0000337 {source="MONDO:equivalentTo"}
xref: HP:0005231 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:535.4 {source="EFO:0000337"}
xref: ICD9:535.40 {source="EFO:0000337"}
xref: ICD9:535.41 {source="EFO:0000337"}
xref: NCIT:C26929 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000337"}
xref: SCTID:8493009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000337"}
xref: UMLS:C0085695 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26929", source="MONDO:equivalentTo"}
is_a: MONDO:0004966 {source="EFO:0000337", source="MONDO:Redundant", source="MONDOLEX:0005001", source="NCIT:C26929", source="linkedlifedata"} ! gastritis (disease)
property_value: exactMatch http://identifiers.org/snomedct/8493009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085695
property_value: exactMatch NCIT:C26929

[Term]
id: MONDO:0005002
name: chronic obstructive pulmonary disease
def: "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." [NCIT:P378]
synonym: "chronic obstructive airway disease" EXACT [DOID:3083]
synonym: "chronic obstructive airways disease" EXACT [NCIT:C3199]
synonym: "chronic obstructive lung disease" EXACT [DOID:3083]
synonym: "chronic obstructive pulmonary disease (COPD)" EXACT [NCIT:C3199]
synonym: "chronic obstructive pulmonary disease, (COPD)" EXACT [NCIT:C3199]
synonym: "cold" EXACT [NCIT:C3199]
synonym: "cold (chronic obstructive lung disease)" EXACT [CSP2005:4004-0004, DOID:3083]
synonym: "COPD" EXACT [DOID:3083, NCIT:C3199]
synonym: "COPD, chronic obstructive pulmonary disease" EXACT [NCIT:C3199]
synonym: "disease (COPD), chronic obstructive" EXACT [NCIT:C3199]
synonym: "obstructive lung disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "obstructive pulmonary disease (COPD), chronic" EXACT [NCIT:C3199]
synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [NCIT:C3199]
xref: COHD:255573 {source="MONDO:equivalentTo"}
xref: DOID:3083 {source="EFO:0000341", source="MONDO:equivalentTo"}
xref: EFO:0000341 {source="MONDO:equivalentTo", source="DOID:3083"}
xref: ICD10:J44.9 {source="DOID:3083"}
xref: ICD9:490-496.99 {source="EFO:0000341"}
xref: ICD9:496 {source="EFO:0000341", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D029424 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083", source="MONDO:ontobio"}
xref: NCIT:C3199 {source="EFO:0000341", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.38", source="DOID:3083"}
xref: SCTID:13645005 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083", source="MONDO:kboom-pr-0.88/0.75/0.21"}
is_a: MONDO:0002267 {source="DOID:3083", source="MESH:D029424", source="MONDO:Redundant", source="MONDOLEX:0005002"} ! obstructive lung disease
is_a: MONDO:0002567 ! tracheal disease
property_value: closeMatch http://identifiers.org/snomedct/155565006
property_value: closeMatch http://identifiers.org/snomedct/155569000
property_value: closeMatch http://identifiers.org/snomedct/155585005
property_value: closeMatch http://identifiers.org/snomedct/155617000
property_value: closeMatch http://identifiers.org/snomedct/195935004
property_value: closeMatch http://identifiers.org/snomedct/195948000
property_value: closeMatch http://identifiers.org/snomedct/196003006
property_value: closeMatch http://identifiers.org/snomedct/413846005
property_value: closeMatch http://identifiers.org/snomedct/84162001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024117
property_value: exactMatch DOID:3083
property_value: exactMatch http://identifiers.org/mesh/D029424
property_value: exactMatch http://identifiers.org/snomedct/13645005
property_value: exactMatch NCIT:C3199

[Term]
id: MONDO:0005003
name: chronic pancreatitis
def: "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." [NCIT:P378]
synonym: "pancreatitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:195596 {source="MONDO:equivalentTo"}
xref: EFO:0000342 {source="MONDO:equivalentTo"}
xref: ICD9:577.1 {source="EFO:0000342", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D050500 {source="EFO:0000342", source="MONDO:equivalentTo"}
xref: NCIT:C84637 {source="EFO:0000342", source="MONDO:equivalentTo"}
xref: SCTID:235494005 {source="MONDO:kboom-pr-0.84/0.67/0.09", source="EFO:0000342", source="MONDO:equivalentTo"}
xref: UMLS:C0149521 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C84637", source="MONDO:equivalentTo"}
is_a: MONDO:0004982 {source="EFO:0000342", source="MESH:D050500", source="MONDO:Redundant", source="NCIT:C84637", source="linkedlifedata"} ! pancreatitis
property_value: exactMatch http://identifiers.org/mesh/D050500
property_value: exactMatch http://identifiers.org/snomedct/235494005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149521
property_value: exactMatch NCIT:C84637

[Term]
id: MONDO:0005004
name: clear cell adenocarcinoma
def: "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." [NCIT:P378]
synonym: "adenocarcinoma, clear cell, malignant" EXACT [NCIT:C3766]
synonym: "clear cell adenocarcinoma" EXACT [NCIT:C3766]
synonym: "clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468]
synonym: "clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:4468]
synonym: "clear cell carcinoma" EXACT [NCIT:C3766]
synonym: "malignant Mesonephroma" EXACT [DOID:4468, NCIT:C4072]
synonym: "Mesonephroid clear cell adenocarcinoma" EXACT [NCIT:C3766]
synonym: "Mesonephroid clear cell carcinoma" EXACT [DOID:4468, NCIT:C3766]
synonym: "mesonephroma" EXACT EXCLUDE [DOID:4468]
synonym: "Mesonephroma NOS (morphologic abnormality)" EXACT [DOID:4468]
synonym: "Mesonephroma, malignant" EXACT [DOID:4468]
synonym: "Mesonephroma, malignant (morphologic abnormality)" EXACT [DOID:4468]
synonym: "water-clear cell adenocarcinoma" EXACT [DOID:4468, NCIT:C4156]
synonym: "water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468]
synonym: "water-clear cell carcinoma" EXACT [DOID:4468]
synonym: "Wolffian duct neoplasm" EXACT [DOID:4468, NCIT:C6782]
xref: DOID:4468 {source="MONDO:equivalentTo", source="EFO:0000348"}
xref: EFO:0000348 {source="MONDO:equivalentTo"}
xref: ICDO:8310/3 {source="NCIT:C3766"}
xref: MESH:D018262 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"}
xref: NCIT:C3766 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"}
xref: UMLS:C0206681 {source="DOID:4468", source="MONDO:equivalentTo", source="NCIT:C3766"}
is_a: MONDO:0004970 {source="DOID:4468", source="EFO:0000348", source="MESH:D018262", source="MONDOLEX:0005004", source="NCIT:C3766"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/D008649
property_value: closeMatch http://identifiers.org/snomedct/189633003
property_value: closeMatch http://identifiers.org/snomedct/189861007
property_value: closeMatch http://identifiers.org/snomedct/2221008
property_value: closeMatch http://identifiers.org/snomedct/30546008
property_value: closeMatch http://identifiers.org/snomedct/80727009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025490
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334322
property_value: closeMatch NCIT:C4156
property_value: exactMatch DOID:4468
property_value: exactMatch http://identifiers.org/mesh/D018262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206681
property_value: exactMatch NCIT:C36815
property_value: exactMatch NCIT:C3766

[Term]
id: MONDO:0005005
name: clear cell renal carcinoma
def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [NCIT:C4033]
synonym: "clear cell adenocarcinoma of kidney" EXACT [NCIT:C4033]
synonym: "clear cell adenocarcinoma of the kidney" EXACT [NCIT:C4033]
synonym: "clear cell adenocarcinoma, kidney" EXACT [NCIT:C4033]
synonym: "clear cell carcinoma of kidney" EXACT [NCIT:C4033]
synonym: "clear cell carcinoma of the kidney" EXACT [NCIT:C4033]
synonym: "clear cell kidney carcinoma" EXACT [DOID:4467]
synonym: "clear cell renal cell cancer" EXACT [NCIT:C4033]
synonym: "clear cell renal cell carcinoma" EXACT [NCIT:C4033]
synonym: "clear-cell metastatic renal cell carcinoma" RELATED [DOID:4467, MESH:C538445]
synonym: "conventional (clear cell) renal cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "conventional (clear cell) renal cell carcinoma" EXACT [DOID:4467, MTH:NOCODE, NCIT:C4033]
synonym: "conventional renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033]
synonym: "Grawitz tumor" EXACT DEPRECATED [NCIT:C4033]
synonym: "hypernephroma" EXACT DEPRECATED [NCIT:C4033]
synonym: "kidney clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4033]
synonym: "kidney clear cell carcinoma" EXACT [NCIT:C4033]
synonym: "RCC, clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal cell carcinoma, clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal clear cell carcinoma" EXACT [NCIT:C4033]
xref: DOID:4467 {source="MONDO:equivalentTo", source="EFO:0000349"}
xref: EFO:0000349 {source="MONDO:equivalentTo"}
xref: GARD:0009574 {source="MONDO:equivalentTo"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4033 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"}
xref: ONCOTREE:CCRCC {source="MONDO:equivalentTo"}
xref: SCTID:254915003 {source="MONDO:kboom-pr-0.92/0.84/0.06", source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"}
is_a: MONDO:0005004 {source="MONDO:Redundant", source="MONDOLEX:0005005", source="NCIT:C4033"} ! clear cell adenocarcinoma
is_a: MONDO:0005549 {source="MONDOLEX:0005005", source="NCIT:C4033"} ! renal cell adenocarcinoma
is_a: MONDO:0007763 {source="MONDOLEX:0005005"} ! nonpapillary renal cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/188251003
property_value: closeMatch http://identifiers.org/snomedct/41607009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279702
property_value: exactMatch DOID:4467
property_value: exactMatch http://identifiers.org/snomedct/254915003
property_value: exactMatch NCIT:C4033

[Term]
id: MONDO:0005006
name: clear cell sarcoma of kidney
def: "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." [NCIT:C4264]
subset: ordo_disease {source="Orphanet:457246"}
synonym: "CCSK" EXACT [NCIT:C4264, ONCOTREE:CCSK, Orphanet:457246]
synonym: "childhood clear cell sarcoma of the kidney" EXACT [NCIT:C4264]
synonym: "childhood kidney clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264]
synonym: "childhood renal clear cell sarcoma" EXACT [NCIT:C4264]
synonym: "clear cell sarcoma - kidney" EXACT [NCIT:C4264]
synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264]
synonym: "clear cell sarcoma of the kidney" EXACT [NCIT:C4264]
synonym: "kidney clear cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C4264]
synonym: "pediatric kidney clear cell sarcoma" EXACT [NCIT:C4264]
synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT:C6564]
synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264]
xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"}
xref: EFO:0000350 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="Orphanet:457246", source="ORDO:457246/index", source="ORDO:457246/ntbt"}
xref: ICDO:8964/3 {source="NCIT:C4264"}
xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"}
xref: ONCOTREE:CCSK {source="MONDO:equivalentTo"}
xref: Orphanet:457246 {source="MONDO:equivalentTo"}
xref: UMLS:C0334488 {source="NCIT:C4264", source="MONDO:equivalentTo", source="DOID:4880"}
xref: UMLS:CN242113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002926 {source="DOID:4880", source="MONDO:Redundant", source="MONDOLEX:0005006"} ! clear cell sarcoma
is_a: MONDO:0002930 {source="DOID:4880", source="MONDO:Redundant", source="NCIT:C4264"} ! kidney sarcoma
relationship: excluded_subClassOf MONDO:0015963 {source="Orphanet:457246"} ! obsolete inherited renal tumor
property_value: closeMatch http://identifiers.org/snomedct/189813000
property_value: closeMatch http://identifiers.org/snomedct/24007003
property_value: exactMatch DOID:4880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242113
property_value: exactMatch NCIT:C4264
property_value: exactMatch Orphanet:457246

[Term]
id: MONDO:0005007
name: colon mucinous adenocarcinoma
def: "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." [NCIT:C7966]
synonym: "colloid adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "colloid adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "colloid colon adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colloidal adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "colloidal adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "colloidal colon adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon colloid adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon colloidal adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7966]
synonym: "colonic colloid adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colonic colloidal adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colonic mucinous adenocarcinoma" EXACT [DOID:3029, NCIT:C7966]
synonym: "mucinous adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "mucinous adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "mucinous colon adenocarcinoma" EXACT [NCIT:C7966]
xref: DOID:3029 {source="EFO:0000364", source="MONDO:equivalentTo"}
xref: EFO:0000364 {source="MONDO:equivalentTo"}
xref: NCIT:C7966 {source="EFO:0000364", source="DOID:3029", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279639 {source="DOID:3029", source="MONDO:equivalentTo", source="NCIT:C7966"}
is_a: MONDO:0002271 {source="DOID:3029", source="MONDO:Redundant", source="MONDOLEX:0005007", source="NCIT:C7966"} ! colon adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3029", source="MONDO:Redundant", source="MONDOLEX:0005007", source="NCIT:C7966/inferred"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279639
property_value: exactMatch NCIT:C7966

[Term]
id: MONDO:0005008
name: colorectal adenocarcinoma
alt_id: MONDO:0000528
def: "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C5105]
comment: Editor note: we follow NCIT in treating colorectal and large intestine as equivalent
synonym: "adenocarcinoma of large bowel" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of large intestine" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of the large bowel" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of the large intestine" EXACT [NCIT:C5105]
synonym: "colorectal (colon or rectal) adenocarcinoma" EXACT [NCIT:C5105]
synonym: "colorectal adenocarcinoma" EXACT [NCIT:C5105]
synonym: "colorectum adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "large bowel adenocarcinoma" EXACT [NCIT:C5105]
synonym: "large intestine adenocarcinoma" EXACT [NCIT:C5105]
xref: DOID:0050861 {source="EFO:0000365", source="MONDO:equivalentTo"}
xref: DOID:0050913 {source="MONDO:equivalentTo"}
xref: EFO:0000365 {source="MONDO:equivalentTo"}
xref: NCIT:C5105 {source="DesignPattern", source="EFO:0000365", source="MONDO:equivalentTo"}
xref: ONCOTREE:COADREAD {source="MONDO:equivalentTo"}
xref: SCTID:408645001 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C1319315 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5105"}
is_a: MONDO:0004970 {source="DOID:0050913", source="EFO:0000365", source="MONDO:Redundant", source="MONDOLEX:0005008", source="NCIT:C5105", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0024331 ! colorectal carcinoma
property_value: exactMatch DOID:0050861
property_value: exactMatch DOID:0050913
property_value: exactMatch http://identifiers.org/snomedct/408645001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319315
property_value: exactMatch NCIT:C5105

[Term]
id: MONDO:0005009
name: congestive heart failure
def: "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." [NCIT:C3080]
synonym: "cardiac failure, congestive" EXACT [DOID:6000, NCIT:C3080]
synonym: "CHF" EXACT [CSP2005:1393-3597, DOID:6000]
synonym: "congestive heart disease" EXACT [DOID:6000, MTHICD9_2006:428.0]
synonym: "failure, congestive heart" EXACT [NCIT:C3080]
synonym: "heart failure, congestive" EXACT [NCIT:C3080]
synonym: "weak heart" EXACT [DOID:6000, MTHICD9_2006:428.9]
xref: COHD:319835 {source="MONDO:equivalentTo"}
xref: DOID:6000 {source="EFO:0000373", source="MONDO:equivalentTo"}
xref: EFO:0000373 {source="MONDO:equivalentTo"}
xref: ICD10:I50 {source="DOID:6000"}
xref: ICD10:I50.0 {source="MONDO:equivalentTo"}
xref: ICD10:I50.9 {source="DOID:6000"}
xref: ICD9:404.01 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:404.11 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:404.13 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:428 {source="DOID:6000"}
xref: ICD9:428.0 {source="EFO:0000373", source="MONDO:equivalentTo", source="i2s", source="DOID:6000"}
xref: ICD9:428.9 {source="MONDO:subClassOf", source="DOID:6000"}
xref: NCIT:C3080 {source="EFO:0000373", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.80/4.07", source="DOID:6000"}
xref: SCTID:42343007 {source="EFO:0000373", source="MONDO:equivalentTo", source="DOID:6000", source="MONDO:kboom-pr-0.98/0.77/3.46"}
xref: UMLS:C0018802 {source="MONDO:equivalentTo", source="DOID:6000", source="NCIT:C3080"}
is_a: MONDO:0005252 {source="EFO:0000373", source="NCIT:C3080", source="linkedlifedata"} ! heart failure
property_value: closeMatch http://identifiers.org/snomedct/155374007
property_value: closeMatch http://identifiers.org/snomedct/155375008
property_value: closeMatch http://identifiers.org/snomedct/155377000
property_value: closeMatch http://identifiers.org/snomedct/195108009
property_value: closeMatch http://identifiers.org/snomedct/195117009
property_value: closeMatch http://identifiers.org/snomedct/266248006
property_value: closeMatch http://identifiers.org/snomedct/266308000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018801
property_value: exactMatch DOID:6000
property_value: exactMatch http://identifiers.org/snomedct/42343007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018802
property_value: exactMatch NCIT:C3080

[Term]
id: MONDO:0005010
name: coronary artery disease
def: "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" [NCIT:C26732]
synonym: "CAD" EXACT [NCIT:C26732]
synonym: "CHD" EXACT [DOID:3393]
synonym: "CHD (coronary heart disease)" EXACT [CSP2005:1393-3397, DOID:3393]
synonym: "coronary arteriosclerosis" NARROW [DOID:3393]
synonym: "coronary artery disease" EXACT [MONDO:patterns/location, NCIT:C26732]
synonym: "coronary artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "coronary disease" EXACT [DOID:3393, NCIT:C26732]
synonym: "coronary heart disease" EXACT [DOID:3393, MONDO:0000016, NCIT:C26732]
synonym: "disease of coronary artery" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of coronary artery" EXACT []
synonym: "disorder of coronary artery" EXACT [MONDO:patterns/location_top]
synonym: "disorder of coronary artery" RELATED [MONDO:patterns/location_top]
xref: COHD:317576 {source="MONDO:equivalentTo"}
xref: DOID:3393 {source="EFO:0000378", source="MONDO:equivalentTo"}
xref: EFO:0001645 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="DOID:3393"}
xref: GARD:0011944 {source="MONDO:equivalentTo"}
xref: ICD10:I20-I25 {source="DOID:3393"}
xref: ICD10:I25 {source="DOID:3393"}
xref: ICD10:I25.1 {source="DOID:3393"}
xref: ICD10:I25.10 {source="DOID:3393"}
xref: ICD10:I25.9 {source="DOID:3393"}
xref: ICD10:K76.1 {source="DOID:3393"}
xref: ICD9:410-414.99 {source="EFO:0001645", source="DOID:3393"}
xref: ICD9:414.0 {source="EFO:0000378", source="DOID:3393"}
xref: ICD9:414.9 {source="DOID:3393"}
xref: MESH:D003324 {source="EFO:0000378", source="MONDO:equivalentTo", source="DOID:3393"}
xref: NCIT:C26732 {source="EFO:0000378", source="MONDO:equivalentTo", source="EFO:0001645"}
xref: SCTID:414024009 {source="MONDO:equivalentTo"}
xref: UMLS:C1956346 {source="MONDO:equivalentTo", source="NCIT:C26732"}
is_a: MONDO:0000473 {source="DOID:3393", source="MONDO:Redundant", source="linkedlifedata"} ! arterial disorder
is_a: MONDO:0005267 {source="EFO:0000378/inferred", source="MESH:D003324/inferred", source="MONDO:Redundant", source="NCIT:C26732/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! heart disease
property_value: closeMatch http://identifiers.org/mesh/D003327
property_value: closeMatch http://identifiers.org/snomedct/155303000
property_value: closeMatch http://identifiers.org/snomedct/155315001
property_value: closeMatch http://identifiers.org/snomedct/155316000
property_value: closeMatch http://identifiers.org/snomedct/155318004
property_value: closeMatch http://identifiers.org/snomedct/155322009
property_value: closeMatch http://identifiers.org/snomedct/194795001
property_value: closeMatch http://identifiers.org/snomedct/194841001
property_value: closeMatch http://identifiers.org/snomedct/194852007
property_value: closeMatch http://identifiers.org/snomedct/194878003
property_value: closeMatch http://identifiers.org/snomedct/195540001
property_value: closeMatch http://identifiers.org/snomedct/233822007
property_value: closeMatch http://identifiers.org/snomedct/2610009
property_value: closeMatch http://identifiers.org/snomedct/266231003
property_value: closeMatch http://identifiers.org/snomedct/266290000
property_value: closeMatch http://identifiers.org/snomedct/266291001
property_value: closeMatch http://identifiers.org/snomedct/271430002
property_value: closeMatch http://identifiers.org/snomedct/32598000
property_value: closeMatch http://identifiers.org/snomedct/413838009
property_value: closeMatch http://identifiers.org/snomedct/413844008
property_value: closeMatch http://identifiers.org/snomedct/414795007
property_value: closeMatch http://identifiers.org/snomedct/41702007
property_value: closeMatch http://identifiers.org/snomedct/53741008
property_value: closeMatch http://identifiers.org/snomedct/84537008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010054
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010068
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264694
property_value: exactMatch DOID:3393
property_value: exactMatch http://identifiers.org/mesh/D003324
property_value: exactMatch http://identifiers.org/snomedct/414024009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956346
property_value: exactMatch NCIT:C26732

[Term]
id: MONDO:0005011
name: Crohn disease
def: "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." [NCIT:P378]
synonym: "Crohn disease" EXACT [DOID:8778, MESH:D003424, NCIT:C2965]
synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C2965]
synonym: "Crohn's disease of colon" EXACT [DOID:8778]
synonym: "Crohn's disease of large bowel" EXACT [DOID:8778, MTH:NOCODE]
synonym: "granulomatous colitis" EXACT [DOID:8778, NCIT:C37262]
synonym: "pediatric Crohn's disease" EXACT [DOID:8778, MESH:C536215]
synonym: "regional enteritis" EXACT [NCIT:C2965]
xref: COHD:201606 {source="MONDO:equivalentTo"}
xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"}
xref: EFO:0000384 {source="DOID:8778", source="MONDO:equivalentTo"}
xref: ICD10:K50.1 {source="DOID:8778"}
xref: ICD9:555.1 {source="DOID:8778", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2965 {source="EFO:0000384", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.21"}
xref: SCTID:7620006 {source="DOID:8778", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.69/0.48"}
xref: UMLS:CN043071 {source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DOID:8778", source="EFO:0000384", source="NCIT:C2965", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory bowel disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0002203 {source="Wikidata"} ! constipation disorder
relationship: disease_has_feature MONDO:0002508 {source="Wikidata"} ! gingivitis
property_value: closeMatch http://identifiers.org/mesh/D003424
property_value: closeMatch http://identifiers.org/snomedct/155762006
property_value: closeMatch http://identifiers.org/snomedct/196981009
property_value: closeMatch http://identifiers.org/snomedct/196982002
property_value: closeMatch http://identifiers.org/snomedct/266446008
property_value: closeMatch http://identifiers.org/snomedct/50440006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010346
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156147
property_value: closeMatch NCIT:C27837
property_value: closeMatch NCIT:C37262
property_value: exactMatch DOID:8778
property_value: exactMatch http://identifiers.org/snomedct/7620006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043071
property_value: exactMatch NCIT:C2965

[Term]
id: MONDO:0005012
name: cutaneous melanoma (disease)
def: "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." [NCIT:C3510]
synonym: "cutaneous (skin) melanoma" EXACT [NCIT:C3510]
synonym: "cutaneous melanoma" EXACT [DOID:8923, MONDO:ambiguous, NCIT:C3510]
synonym: "malignant cutaneous melanoma" EXACT [NCIT:C3510]
synonym: "malignant ear melanoma" EXACT [DOID:8923]
synonym: "malignant lip melanoma" EXACT [DOID:8923]
synonym: "malignant lower limb melanoma" EXACT [DOID:8923]
synonym: "malignant melanoma (of skin), stage unspecified" EXACT [NCIT:C3510]
synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [DOID:8923]
synonym: "malignant melanoma of skin" EXACT [NCIT:C3510]
synonym: "malignant melanoma of skin of lower limb" EXACT [DOID:8923]
synonym: "malignant melanoma of skin of trunk except scrotum" EXACT [DOID:8923]
synonym: "malignant melanoma of skin of upper limb" EXACT [DOID:8923]
synonym: "malignant melanoma of skin stage unspecified" EXACT [NCIT:C3510]
synonym: "malignant neck melanoma" EXACT [DOID:8923]
synonym: "malignant scalp melanoma" EXACT [DOID:8923]
synonym: "malignant trunk melanoma" EXACT [DOID:8923]
synonym: "malignant upper limb melanoma" EXACT [DOID:8923]
synonym: "melanoma (disease) of zone of skin" EXACT []
synonym: "melanoma of skin" EXACT [NCIT:C3510]
synonym: "melanoma of the skin" EXACT [NCIT:C3510]
synonym: "skin melanoma" EXACT [NCIT:C3510]
synonym: "skin, melanoma" EXACT [NCIT:C3510]
synonym: "zone of skin melanoma" EXACT []
synonym: "zone of skin melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8923 {source="EFO:0000389", source="MONDO:equivalentTo"}
xref: EFO:0000389 {source="MONDO:equivalentTo"}
xref: HP:0012056 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C43 {source="DOID:8923"}
xref: ICD10:C43.0 {source="DOID:8923"}
xref: ICD10:C43.2 {source="DOID:8923"}
xref: ICD10:C43.4 {source="DOID:8923"}
xref: ICD10:C43.9 {source="DOID:8923"}
xref: ICD9:172 {source="DOID:8923", source="EFO:0000389"}
xref: ICD9:172.0 {source="DOID:8923"}
xref: ICD9:172.2 {source="DOID:8923"}
xref: ICD9:172.3 {source="EFO:0000389"}
xref: ICD9:172.4 {source="DOID:8923"}
xref: ICD9:172.5 {source="DOID:8923"}
xref: ICD9:172.8 {source="EFO:0000389"}
xref: ICD9:172.9 {source="DOID:8923", source="EFO:0000389"}
xref: NCIT:C3510 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"}
xref: ONCOTREE:SKCM {source="MONDO:equivalentTo"}
xref: SCTID:93655004 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"}
xref: UMLS:C0151779 {source="MEDGEN:kboom-pr98-c99", source="DOID:8923", source="MONDO:equivalentTo", source="NCIT:C3510"}
xref: UMLS:C0153535 {source="MEDGEN:kboom-pr98-c99", source="DOID:8923", source="MONDO:equivalentTo"}
xref: UMLS:C0153536 {source="MEDGEN:kboom-pr98-c99", source="DOID:8923", source="MONDO:equivalentTo"}
is_a: MONDO:0002898 {source="DOID:8923", source="NCIT:C3510", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer
is_a: MONDO:0005105 {source="DOID:8923", source="EFO:0000389", source="MONDO:Redundant", source="NCIT:C3510", source="ONCOTREE:SKCM", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanoma (disease)
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021583 {source="MONDO:Redundant", source="NCIT:C3510"} ! melanocytic skin neoplasm
disjoint_from: MONDO:0006320 ! non-cutaneous melanoma
property_value: closeMatch http://identifiers.org/mesh/C562393
property_value: closeMatch http://identifiers.org/snomedct/154501005
property_value: closeMatch http://identifiers.org/snomedct/154506000
property_value: closeMatch http://identifiers.org/snomedct/188030005
property_value: closeMatch http://identifiers.org/snomedct/188032002
property_value: closeMatch http://identifiers.org/snomedct/188035000
property_value: closeMatch http://identifiers.org/snomedct/188044004
property_value: closeMatch http://identifiers.org/snomedct/188047006
property_value: closeMatch http://identifiers.org/snomedct/188082007
property_value: closeMatch http://identifiers.org/snomedct/190105009
property_value: closeMatch http://identifiers.org/snomedct/269577007
property_value: closeMatch http://identifiers.org/snomedct/93640008
property_value: closeMatch http://identifiers.org/snomedct/93641007
property_value: closeMatch http://identifiers.org/snomedct/93653006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346773
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346782
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112782
property_value: exactMatch DOID:8923
property_value: exactMatch http://identifiers.org/snomedct/93655004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153536
property_value: exactMatch NCIT:C3510

[Term]
id: MONDO:0005013
name: dedifferentiated chondrosarcoma
def: "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." [NCIT:C6476]
synonym: "DDCHS" RELATED [ONCOTREE:DDCHS]
synonym: "Dedifferentiated chondrosarcoma" EXACT [NCIT:C6476]
xref: EFO:0000394 {source="MONDO:equivalentTo"}
xref: ICDO:9243/3 {source="NCIT:C6476"}
xref: NCIT:C6476 {source="EFO:0000394", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:DDCHS {source="MONDO:equivalentTo"}
xref: UMLS:C0862878 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6476", source="MONDO:equivalentTo"}
is_a: MONDO:0000515 ! bone chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C6476"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/128776008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862878
property_value: exactMatch NCIT:C6476

[Term]
id: MONDO:0005014
name: obsolete dermatomyositis
def: "Inflammation of the skin and muscle." [NCIT:C26744]
is_obsolete: true
replaced_by: MONDO:0016367

[Term]
id: MONDO:0005015
name: diabetes mellitus (disease)
def: "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." [NCIT:P378]
synonym: "diabetes" EXACT [NCIT:C2985]
synonym: "diabetes mellitus" EXACT [MONDO:ambiguous, NCIT:C2985]
synonym: "DM" EXACT [NCIT:C2985]
xref: COHD:201820 {source="MONDO:equivalentTo"}
xref: DOID:9351 {source="EFO:0000400", source="MONDO:equivalentTo"}
xref: EFO:0000400 {source="MONDO:equivalentTo"}
xref: HP:0000819 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E08-E13 {source="DOID:9351"}
xref: ICD10:E10.E14 {source="MONDO:equivalentTo"}
xref: ICD10:E11 {source="DOID:9351"}
xref: ICD9:250 {source="EFO:0000400", source="DOID:9351"}
xref: MESH:D003920 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351", source="MONDO:ontobio"}
xref: NCIT:C2985 {source="MONDO:kboom-pr-0.90/0.77/0.43", source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"}
xref: SCTID:73211009 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0011847 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0011849 {source="MONDO:equivalentTo", source="DOID:9351", source="MEDGEN:kboom-pr94-c94", source="NCIT:C2985"}
is_a: MONDO:0001933 {source="NCIT:C2985"} ! endocrine pancreas disease
is_a: MONDO:0002908 {source="DOID:9351", source="MESH:D003920", source="NCIT:C2985", source="linkedlifedata"} ! glucose metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/154671004
property_value: closeMatch http://identifiers.org/snomedct/191044006
property_value: closeMatch http://identifiers.org/snomedct/267467004
property_value: exactMatch DOID:9351
property_value: exactMatch http://identifiers.org/mesh/D003920
property_value: exactMatch http://identifiers.org/snomedct/73211009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011847
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011849
property_value: exactMatch NCIT:C2985

[Term]
id: MONDO:0005016
name: diabetic nephropathy
def: "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." [NCIT:C84417]
synonym: "diabetic kidney disease" EXACT [NCIT:C84417]
synonym: "diabetic nephropathy" EXACT [NCIT:C84417]
xref: EFO:0000401 {source="MONDO:equivalentTo"}
xref: ICD9:250.4 {source="EFO:0000401"}
xref: ICD9:250.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:583.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003928 {source="MONDO:equivalentTo", source="EFO:0000401", source="MONDO:ontobio"}
xref: NCIT:C84417 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0000401"}
xref: SCTID:127013003 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo", source="EFO:0000401"}
is_a: MONDO:0005066 {source="EFO:0000401", source="MESH:D003928/inferred", source="linkedlifedata/inferred"} ! metabolic disease
is_a: MONDO:0005300 {source="NCIT:C84417"} ! chronic kidney disease
relationship: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
property_value: closeMatch http://identifiers.org/snomedct/197605007
property_value: closeMatch http://identifiers.org/snomedct/230576004
property_value: closeMatch http://identifiers.org/snomedct/230577008
property_value: closeMatch http://identifiers.org/snomedct/311366001
property_value: closeMatch http://identifiers.org/snomedct/38542009
property_value: closeMatch http://identifiers.org/snomedct/39058009
property_value: closeMatch http://identifiers.org/snomedct/39127005
property_value: closeMatch http://identifiers.org/snomedct/54181000
property_value: closeMatch http://identifiers.org/snomedct/707221002
property_value: closeMatch http://identifiers.org/snomedct/81830002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011881
property_value: exactMatch http://identifiers.org/mesh/D003928
property_value: exactMatch http://identifiers.org/snomedct/127013003
property_value: exactMatch NCIT:C84417

[Term]
id: MONDO:0005017
name: diffuse gastric adenocarcinoma
def: "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." [NCIT:C9159]
synonym: "adenocarcinoma of linitis plastica type" EXACT [DOID:6217, NCIT:C9159]
synonym: "adenocarcinoma of the linitis plastica type" EXACT [NCIT:C9159]
synonym: "carcinoma, diffuse type" EXACT [DOID:6217]
synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [DOID:6217]
synonym: "diffuse adenocarcinoma of stomach" EXACT [NCIT:C9159]
synonym: "diffuse adenocarcinoma of the stomach" EXACT [NCIT:C9159]
synonym: "diffuse gastric adenocarcinoma" EXACT [NCIT:C9159]
synonym: "diffuse stomach adenocarcinoma" EXACT [NCIT:C9159]
synonym: "diffuse type adenocarcinoma" EXACT EXCLUDE [DOID:6217]
synonym: "diffuse type carcinoma" EXACT EXCLUDE [DOID:6217]
synonym: "diffuse type stomach adenocarcinoma" RELATED [ONCOTREE:DSTAD]
synonym: "gastric diffuse adenocarcinoma" EXACT [MONDO:0003814]
synonym: "stomach diffuse type adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6217 {source="MONDO:equivalentTo"}
xref: EFO:0000402 {source="MONDO:equivalentTo"}
xref: NCIT:C9159 {source="DOID:6217", source="MONDO:equivalentTo", source="EFO:0000402", source="MONDO:kboom-pr-0.96/0.86/1.33"}
xref: ONCOTREE:DSTAD {source="MONDO:equivalentTo"}
is_a: MONDO:0005036 {source="DOID:6217", source="MONDO:Redundant", source="MONDOLEX:0005017", source="NCIT:C9159", source="ONCOTREE:DSTAD", source="OWLReasoner:2017"} ! gastric adenocarcinoma
is_a: MONDO:0021652 {source="MONDO:Redundant", source="MONDOLEX:0005017", source="NCIT:C9159"} ! diffuse type adenocarcinoma
relationship: disease_has_feature MONDO:0002839 ! leather-bottle stomach
property_value: closeMatch http://identifiers.org/snomedct/24505004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279635
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334280
property_value: exactMatch DOID:6217
property_value: exactMatch NCIT:C9159

[Term]
id: MONDO:0005018
name: obsolete diffuse large B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0018905

[Term]
id: MONDO:0005019
name: diffuse scleroderma
def: "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." [NCIT:P378]
synonym: "diffuse systemic sclerosis" EXACT [CSP2005:4008-0097, DOID:1580]
synonym: "systemic sclerosis, diffuse" EXACT [DOID:1580]
xref: DOID:1580 {source="MONDO:equivalentTo", source="EFO:0000404"}
xref: EFO:0000404 {source="MONDO:equivalentTo"}
xref: MESH:D045743 {source="MONDO:equivalentTo", source="EFO:0000404", source="DOID:1580"}
is_a: MONDO:0005100 {source="DOID:1580", source="MESH:D045743", source="MONDOLEX:0005019"} ! systemic sclerosis
property_value: closeMatch http://identifiers.org/snomedct/128460000
property_value: closeMatch http://identifiers.org/snomedct/444133002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1258104
property_value: exactMatch DOID:1580
property_value: exactMatch http://identifiers.org/mesh/D045743

[Term]
id: MONDO:0005020
name: intestinal disease
def: "A non-neoplastic or neoplastic disorder that affects the small or large intestine." [NCIT:C26801]
synonym: "disease of intestine" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of intestine" EXACT []
synonym: "disease, intestinal" RELATED [MESH:D007410]
synonym: "diseases, intestinal" RELATED [MESH:D007410]
synonym: "disorder of intestine" EXACT [MONDO:patterns/location_top]
synonym: "disorder of intestine" RELATED [MONDO:patterns/location_top]
synonym: "intestinal disease" EXACT [MESH:D007410]
synonym: "intestinal disorder" EXACT [NCIT:C26801]
synonym: "intestine disease" EXACT [MONDO:patterns/location]
synonym: "intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5295 {source="MONDO:equivalentTo", source="EFO:0000405"}
xref: ICD10:K63.9 {source="DOID:5295"}
xref: ICD9:520-579.99 {source="EFO:0000405"}
xref: ICD9:560-569.99 {source="EFO:0000405"}
xref: ICD9:564 {source="EFO:0000405"}
xref: ICD9:564.4 {source="EFO:0000405"}
xref: ICD9:569 {source="EFO:0000405"}
xref: ICD9:569.4 {source="EFO:0000405"}
xref: ICD9:569.49 {source="EFO:0000405"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:569.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:5295"}
xref: ICD9:570-579.99 {source="EFO:0000405"}
xref: ICD9:575 {source="EFO:0000405"}
xref: MESH:D007410 {source="MONDO:equivalentTo", source="DOID:5295", source="EFO:0000405"}
xref: NCIT:C26801 {source="MONDO:equivalentTo", source="DOID:5295"}
xref: SCTID:85919009 {source="MONDO:kboom-pr-0.91/0.80/0.38", source="MONDO:equivalentTo", source="DOID:5295"}
is_a: MONDO:0004335 {source="DOID:5295", source="MESH:D007410", source="MONDO:Redundant", source="NCIT:C26801", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease
property_value: closeMatch http://identifiers.org/mesh/D004066
property_value: closeMatch http://identifiers.org/snomedct/155629009
property_value: closeMatch http://identifiers.org/snomedct/197266001
property_value: closeMatch http://identifiers.org/snomedct/266483008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021831
property_value: exactMatch DOID:5295
property_value: exactMatch http://identifiers.org/mesh/D007410
property_value: exactMatch http://identifiers.org/snomedct/85919009
property_value: exactMatch NCIT:C26801

[Term]
id: MONDO:0005021
name: dilated cardiomyopathy
def: "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:217604"}
synonym: "congestive cardiomyopathy" RELATED [DOID:12930]
synonym: "familial dilated cardiomyopathy" RELATED [DOID:12930, MESH:C536231]
synonym: "idiopathic dilation cardiomyopathy" RELATED [DOID:12930, MESH:C536277]
synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930]
xref: COHD:4163710 {source="MONDO:equivalentTo"}
xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"}
xref: EFO:0000407 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"}
xref: ICD10:I42.0 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:05414 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: MedDRA:10056370 {source="ORDO:217604/e", source="Orphanet:217604"}
xref: MESH:D002311 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo", source="EFO:0000407"}
xref: MP:0002795 {source="EFO:0000407"}
xref: NCIT:C84673 {source="DOID:12930", source="MONDO:kboom-pr-0.92/0.79/0.61", source="MONDO:equivalentTo", source="EFO:0000407"}
xref: Orphanet:217604 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: SCTID:195021004 {source="DOID:12930", source="MONDO:kboom-pr-0.85/0.68/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0007193 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo", source="NCIT:C84673"}
is_a: MONDO:0000591 {source="DOID:12930", source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/195018001
property_value: closeMatch http://identifiers.org/snomedct/389995008
property_value: closeMatch http://identifiers.org/snomedct/399020009
property_value: closeMatch http://identifiers.org/snomedct/74368002
property_value: exactMatch DOID:12930
property_value: exactMatch http://identifiers.org/meddra/10056370
property_value: exactMatch http://identifiers.org/mesh/D002311
property_value: exactMatch http://identifiers.org/snomedct/195021004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007193
property_value: exactMatch NCIT:C84673
property_value: exactMatch Orphanet:217604

[Term]
id: MONDO:0005022
name: obsolete ductal breast adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005590

[Term]
id: MONDO:0005023
name: ductal breast carcinoma in situ
def: "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS." [NCIT:P378]
synonym: "breast ductal carcinoma in situ" RELATED [ONCOTREE:DCIS]
synonym: "carcinoma in situ of mammary duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "DCIS" EXACT [NCIT:C2924]
synonym: "ductal breast carcinoma in situ" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ (DCIS)" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ of breast" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ of the breast" EXACT [NCIT:C2924]
synonym: "intraductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "mammary duct carcinoma in situ" EXACT []
synonym: "mammary duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "non-infiltrating ductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal carcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "stage 0 mammary duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0060074 {source="MONDO:equivalentTo", source="EFO:0000432"}
xref: EFO:0000432 {source="MONDO:equivalentTo"}
xref: ICD9:233.0 {source="MONDO:subClassOf", source="EFO:0000432"}
xref: ICDO:8500/2 {source="NCIT:C2924"}
xref: MESH:D002285 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2924 {source="MONDO:equivalentTo", source="EFO:0000432", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:DCIS {source="MONDO:equivalentTo"}
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C2924/inferred"} ! adenocarcinoma in situ
is_a: MONDO:0004007 {source="NCIT:C2924"} ! breast intraductal proliferative lesion
is_a: MONDO:0004658 {source="DOID:0060074", source="MONDO:Redundant", source="MONDOLEX:0005023", source="NCIT:C2924"} ! breast carcinoma in situ
is_a: MONDO:0005590 {source="MONDO:Redundant", source="MONDOLEX:0005023", source="NCIT:C2924"} ! breast ductal adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007124
property_value: exactMatch DOID:0060074
property_value: exactMatch http://identifiers.org/mesh/D002285
property_value: exactMatch NCIT:C2924

[Term]
id: MONDO:0005024
name: obsolete emphysema
is_obsolete: true
replaced_by: MONDO:0004849

[Term]
id: MONDO:0005025
name: endocarditis (disease)
def: "Inflammation of the endocardium." [NCIT:C34582]
synonym: "endocarditis" EXACT [MONDO:ambiguous]
synonym: "endocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endocardium" EXACT []
xref: COHD:441589 {source="MONDO:equivalentTo"}
xref: DOID:10314 {source="MONDO:equivalentTo", source="EFO:0000465"}
xref: EFO:0000465 {source="MONDO:equivalentTo"}
xref: HP:0100584 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I33.9 {source="DOID:10314"}
xref: ICD9:421.9 {source="DOID:10314", source="EFO:0000465"}
xref: ICD9:424.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004696 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"}
xref: NCIT:C34582 {source="DOID:10314", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000465"}
xref: SCTID:56819008 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000470 {source="DOID:10314", source="MONDO:Redundant", source="linkedlifedata"} ! endocardium disease
is_a: MONDO:0024636 ! inflammation of heart layer
property_value: closeMatch http://identifiers.org/snomedct/194935007
property_value: closeMatch http://identifiers.org/snomedct/91357005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014118
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375268
property_value: closeMatch NCIT:C35432
property_value: exactMatch DOID:10314
property_value: exactMatch http://identifiers.org/mesh/D004696
property_value: exactMatch http://identifiers.org/snomedct/56819008
property_value: exactMatch NCIT:C34582

[Term]
id: MONDO:0005026
name: endometrioid adenocarcinoma
def: "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." [NCIT:C3769]
synonym: "endometrioid adenocarcinoma" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma of female reproductive system" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma of the female reproductive system" EXACT [NCIT:C3769]
synonym: "female reproductive endometrioid carcinoma" EXACT [NCIT:C3769]
xref: EFO:0000466 {source="MONDO:equivalentTo"}
xref: ICDO:8380/3 {source="NCIT:C3769"}
xref: NCIT:C3769 {source="EFO:0000466", source="MONDO:equivalentTo"}
xref: UMLS:C0206687 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3769"}
xref: UMLS:C1569637 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001416 {source="NCIT:C3769"} ! female reproductive organ cancer
is_a: MONDO:0004970 {source="MONDO:equivalentTo", source="MONDOLEX:0005026", source="NCIT:C3769"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/D018269
property_value: closeMatch http://identifiers.org/snomedct/30289006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1569637
property_value: exactMatch NCIT:C3769

[Term]
id: MONDO:0005027
name: epilepsy
def: "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." [NCIT:P378]
synonym: "epilepsy syndrome" EXACT EXCLUDE [DOID:1826]
synonym: "epileptic syndrome" EXACT [DOID:1826]
synonym: "seizure disorder" EXACT [NCIT:C3020]
xref: COHD:380378 {source="MONDO:equivalentTo"}
xref: DOID:1826 {source="MONDO:equivalentTo"}
xref: EFO:0000474 {source="MONDO:equivalentTo", source="DOID:1826"}
xref: ICD10:G40 {source="MONDO:equivalentTo"}
xref: ICD10:G40.9 {source="DOID:1826"}
xref: ICD10:G40.909 {source="DOID:1826"}
xref: ICD9:345 {source="EFO:0000474"}
xref: ICD9:345.8 {source="EFO:0000474"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:345.9 {source="EFO:0000474", source="DOID:1826"}
xref: ICD9:345.90 {source="EFO:0000474", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:345.91 {source="EFO:0000474"}
xref: MESH:D004827 {source="EFO:0000474", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1826"}
xref: NCIT:C3020 {source="EFO:0000474", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1826"}
xref: NIFSTD:birnlex_12718 {source="EFO:0000474"}
xref: SCTID:84757009 {source="EFO:0000474", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1826"}
is_a: MONDO:0005560 {source="DOID:1826", source="MESH:D004827", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/128613002
property_value: closeMatch http://identifiers.org/snomedct/155036009
property_value: closeMatch http://identifiers.org/snomedct/155045005
property_value: closeMatch http://identifiers.org/snomedct/193026007
property_value: closeMatch http://identifiers.org/snomedct/246545002
property_value: closeMatch http://identifiers.org/snomedct/267593008
property_value: closeMatch http://identifiers.org/snomedct/267698007
property_value: closeMatch http://identifiers.org/snomedct/271788002
property_value: closeMatch http://identifiers.org/snomedct/313307000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014544
property_value: exactMatch DOID:1826
property_value: exactMatch http://identifiers.org/mesh/D004827
property_value: exactMatch http://identifiers.org/snomedct/84757009
property_value: exactMatch NCIT:C3020

[Term]
id: MONDO:0005028
name: esophageal adenocarcinoma
def: "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." [NCIT:C4025]
subset: ordo_disease {source="Orphanet:99976"}
synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025]
synonym: "adenocarcinoma of esophagus" EXACT [MONDO:0020565, NCIT:C4025]
synonym: "adenocarcinoma of esophagus" RELATED [DOID:4914]
synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025]
synonym: "esophageal adenocarcinoma" EXACT [NCIT:C4025, Orphanet:99976]
synonym: "esophagus adenocarcinoma" EXACT [MONDO:0003201, MONDO:patterns/location, NCIT:C4025]
synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914]
synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025]
xref: DOID:4914 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0000478"}
xref: EFO:0000478 {source="MONDO:equivalentTo"}
xref: ICD10:C15.2 {source="Orphanet:99976", source="ORDO:99976/btnt"}
xref: ICD10:C15.5 {source="Orphanet:99976", source="ORDO:99976/btnt"}
xref: NCIT:C4025 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"}
xref: ONCOTREE:ESCA {source="MONDO:equivalentTo"}
xref: Orphanet:99976 {source="MONDO:equivalentTo"}
xref: SCTID:276803003 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914", source="MONDO:kboom-pr-0.93/0.83/0.33"}
xref: UMLS:C0279628 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99976", source="MONDO:equivalentTo", source="NCIT:C4025", source="DOID:4914"}
is_a: MONDO:0004970 {source="EFO:0000478", source="MONDO:Redundant", source="MONDOLEX:0005028", source="NCIT:C4025", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0019086 {source="DOID:4914", source="MONDO:Redundant", source="MONDOLEX:0005028", source="NCIT:C4025", source="Orphanet:99976", source="linkedlifedata"} ! carcinoma of esophagus
property_value: closeMatch http://identifiers.org/mesh/C562730
property_value: exactMatch DOID:4914
property_value: exactMatch http://identifiers.org/snomedct/276803003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279628
property_value: exactMatch NCIT:C4025
property_value: exactMatch Orphanet:99976

[Term]
id: MONDO:0005029
name: essential thrombocythemia
def: "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" [https://github.com/monarch-initiative/mondo/issues/230, NCIT:C3407]
subset: gard_rare {source="GARD:0006594"}
subset: ordo_disease {source="Orphanet:3318"}
synonym: "essential thrombocytemia" EXACT [NCIT:C3407]
synonym: "essential thrombocythaemia" EXACT [DOID:2224]
synonym: "essential thrombocythemia" EXACT [NCIT:C3407]
synonym: "essential thrombocytosis" EXACT [NCIT:C3407, Orphanet:3318]
synonym: "ET" BROAD [NCIT:C3407, Orphanet:3318]
synonym: "familial thrombocytosis" EXACT EXCLUDE [DOID:2224]
synonym: "hemorrhagic thrombocythemia" EXACT [DOID:2224]
synonym: "hereditary thrombocythemia" EXACT EXCLUDE [DOID:2224]
synonym: "idiopathic thrombocythemia" NARROW [GARD:0006594, NCIT:C3407]
synonym: "primary thrombocythemia" EXACT [GARD:0006594, NCIT:C3407]
synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407]
xref: COHD:438383 {source="MONDO:equivalentTo"}
xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"}
xref: EFO:0000479 {source="MONDO:equivalentTo"}
xref: GARD:0006594 {source="MONDO:equivalentTo"}
xref: ICD10:D47.3 {source="DOID:2224", source="Orphanet:3318", source="ORDO:3318/e"}
xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="i2s"}
xref: ICDO:9962/3 {source="NCIT:C3407"}
xref: MedDRA:10015493 {source="Orphanet:3318", source="ORDO:3318/e"}
xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="ORDO:3318/e", source="MONDO:ontobio"}
xref: NCIT:C3407 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="exact-label-match"}
xref: ONCOTREE:ET {source="MONDO:equivalentTo"}
xref: Orphanet:3318 {source="DOID:2224", source="MONDO:equivalentTo"}
xref: SCTID:109994006 {source="DOID:2224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.77", source="EFO:0000479"}
xref: UMLS:C0040028 {source="NCIT:C3407", source="DOID:2224", source="MONDO:equivalentTo", source="Orphanet:3318", source="ORDO:3318/e"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0016637 {source="Orphanet:3318"} ! thrombotic disorder due to an acquired platelet anomaly
is_a: MONDO:0020076 {source="DOID:2224", source="EFO:0000479", source="MONDO:Redundant", source="NCIT:C3407", source="ONCOTREE:ET", source="Orphanet:3318"} ! myeloproliferative neoplasm
is_a: MONDO:0024499 ! vascular bone neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128844009
property_value: closeMatch http://identifiers.org/snomedct/189508006
property_value: closeMatch http://identifiers.org/snomedct/189513005
property_value: closeMatch http://identifiers.org/snomedct/189514004
property_value: closeMatch http://identifiers.org/snomedct/191333009
property_value: closeMatch http://identifiers.org/snomedct/234499005
property_value: closeMatch http://identifiers.org/snomedct/307652003
property_value: closeMatch http://identifiers.org/snomedct/65471002
property_value: exactMatch DOID:2224
property_value: exactMatch http://identifiers.org/meddra/10015493
property_value: exactMatch http://identifiers.org/mesh/D013920
property_value: exactMatch http://identifiers.org/snomedct/109994006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040028
property_value: exactMatch NCIT:C3407
property_value: exactMatch Orphanet:3318
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia xsd:anyURI {source="GARD:0006594"}

[Term]
id: MONDO:0005030
name: fetal growth restriction
def: "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." [NCIT:P378]
comment: Editor note: check if should be a disease
synonym: "fetal Growth retardation" EXACT [NCIT:C114875]
synonym: "fetal growth retardation" EXACT [NCIT:C114875]
synonym: "fetal SGA" EXACT [NCIT:C114875]
synonym: "fetal small for gestational Age" EXACT [NCIT:C114875]
synonym: "fetus small for gestational Age" EXACT [NCIT:C114875]
synonym: "intrauterine Growth restriction" EXACT [NCIT:C114875]
synonym: "intrauterine Growth retardation" EXACT [NCIT:C114875]
synonym: "IUGR" EXACT [NCIT:C114875]
xref: COHD:80204 {source="MONDO:equivalentTo"}
xref: EFO:0000495 {source="MONDO:equivalentTo"}
xref: ICD9:764.9 {source="EFO:0000495"}
xref: ICD9:764.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:764.91 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.92 {source="EFO:0000495"}
xref: ICD9:764.93 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.94 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.95 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.96 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.97 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.98 {source="EFO:0000495", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:764.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005317 {source="EFO:0000495", source="MONDO:equivalentTo"}
xref: NCIT:C114875 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:22033007 {source="EFO:0000495", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005917 {source="EFO:0000495"} ! placenta disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302511
property_value: exactMatch http://identifiers.org/mesh/D005317
property_value: exactMatch http://identifiers.org/snomedct/22033007
property_value: exactMatch NCIT:C114875
property_value: exactMatch NCIT:C80083

[Term]
id: MONDO:0005031
name: fibromatosis
def: "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." [NCIT:C3042]
synonym: "fibromatosis" EXACT [NCIT:C3042]
xref: EFO:0000497 {source="MONDO:equivalentTo"}
xref: GARD:0006439 {source="MONDO:equivalentTo"}
xref: NCIT:C3042 {source="EFO:0000497", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:723976005 {source="MONDO:equivalentTo"}
is_a: MONDO:0006209 {source="NCIT:C3042"} ! fibroblastic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/19928005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016048
property_value: exactMatch http://identifiers.org/snomedct/723976005
property_value: exactMatch NCIT:C3042

[Term]
id: MONDO:0005032
name: follicular thyroid adenoma
def: "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." [NCIT:C3502]
synonym: "adenoma of the thyroid" EXACT [NCIT:C3502]
synonym: "adenoma of the thyroid gland" EXACT [NCIT:C3502]
synonym: "adenoma of thyroid" EXACT [NCIT:C3502]
synonym: "adenoma of thyroid gland" EXACT [NCIT:C3502]
synonym: "adenoma, follicular cell, benign" EXACT [NCIT:C3502]
synonym: "follicular adenoma" EXACT [NCIT:C3502]
synonym: "follicular adenoma (morphologic abnormality)" EXACT [DOID:6204]
synonym: "follicular adenoma of the thyroid" EXACT [NCIT:C3502]
synonym: "follicular adenoma of the thyroid gland" EXACT [DOID:6204, NCIT:C3502, NCIT:C3684]
synonym: "follicular adenoma of thyroid" EXACT [NCIT:C3502]
synonym: "follicular adenoma of thyroid gland" EXACT [NCIT:C3502]
synonym: "follicular thyroid adenoma" EXACT [MONDO:0003807]
synonym: "thyroid adenoma" EXACT [NCIT:C3502]
synonym: "thyroid follicle adenoma" EXACT []
synonym: "thyroid follicular adenoma" EXACT [NCIT:C3502]
synonym: "thyroid gland adenoma" EXACT [NCIT:C3502]
synonym: "thyroid gland follicular adenoma" EXACT [NCIT:C3502]
xref: DOID:6204 {source="MONDO:equivalentTo"}
xref: EFO:0000499 {source="MONDO:equivalentTo"}
xref: ICDO:8330/0 {source="NCIT:C3502"}
xref: NCIT:C3502 {source="EFO:0000499", source="MONDO:equivalentTo"}
xref: SCTID:255034006 {source="EFO:0000499", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0205647 {source="DOID:6204", source="MONDO:equivalentTo"}
is_a: MONDO:0002454 {source="DOID:6204", source="MONDO:Redundant", source="MONDOLEX:0005032", source="linkedlifedata"} ! thyroid adenoma (disease)
is_a: MONDO:0006107 {source="MONDO:Redundant", source="NCIT:C3502", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign thyroid gland neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/21930005
property_value: closeMatch http://identifiers.org/snomedct/27230006
property_value: closeMatch http://identifiers.org/snomedct/55021007
property_value: closeMatch http://identifiers.org/snomedct/77653004
property_value: closeMatch http://identifiers.org/snomedct/79494009
property_value: closeMatch http://identifiers.org/snomedct/86143001
property_value: exactMatch DOID:6204
property_value: exactMatch http://identifiers.org/snomedct/255034006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205647
property_value: exactMatch NCIT:C3502

[Term]
id: MONDO:0005033
name: ganglioneuroma (disease)
def: "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." [NCIT:C3049]
subset: ordo_disease {source="Orphanet:251992"}
synonym: "ganglioneuroma" EXACT [MONDO:ambiguous, NCIT:C3049]
synonym: "ganglioneuroma (Schwannian Stroma-dominant)" EXACT [NCIT:C3049]
synonym: "ganglioneuroma, benign" EXACT [NCIT:C3049]
synonym: "GN" RELATED [ONCOTREE:GN]
synonym: "neural Crest tumor, benign" EXACT [NCIT:C3049]
xref: DOID:4817 {source="MONDO:equivalentTo", source="EFO:0000500"}
xref: EFO:0000500 {source="MONDO:equivalentTo"}
xref: HP:0003005 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D36.1 {source="ORDO:251992/ntbt", source="Orphanet:251992"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9490/0 {source="NCIT:C3049"}
xref: MedDRA:10017709 {source="ORDO:251992/e", source="Orphanet:251992"}
xref: NCIT:C3049 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000500"}
xref: NIFSTD:birnlex_12617 {source="EFO:0000500"}
xref: ONCOTREE:GN {source="MONDO:equivalentTo"}
xref: Orphanet:251992 {source="MONDO:equivalentTo"}
xref: SCTID:116371000119107 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.16"}
xref: UMLS:C0017075 {source="ORDO:251992/e", source="MONDO:equivalentTo", source="Orphanet:251992", source="NCIT:C3049"}
is_a: MONDO:0002366 {source="DOID:4817", source="MONDO:Redundant", source="NCIT:C3049"} ! autonomic nervous system neoplasm
is_a: MONDO:0006316 {source="NCIT:C3049"} ! neuroblastic tumor
is_a: MONDO:0016729 {source="Orphanet:251992"} ! mixed neuronal-glial tumor
is_a: MONDO:0044993 ! sympathetic nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/53801007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1513025
property_value: closeMatch NCIT:C42065
property_value: exactMatch DOID:4817
property_value: exactMatch http://identifiers.org/meddra/10017709
property_value: exactMatch http://identifiers.org/snomedct/116371000119107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017075
property_value: exactMatch NCIT:C3049
property_value: exactMatch Orphanet:251992

[Term]
id: MONDO:0005034
name: thyroid gland follicular carcinoma
def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." [NCIT:C8054]
synonym: "carcinoma of thyroid follicle" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, follicular cell, malignant" EXACT [NCIT:C8054]
synonym: "follicular adenocarcinoma" EXACT [NCIT:C8054]
synonym: "follicular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3962]
synonym: "follicular adenocarcinoma, well differentiated" EXACT [DOID:3962]
synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" EXACT [DOID:3962]
synonym: "follicular cancer of the thyroid" EXACT [NCIT:C8054]
synonym: "follicular cancer of the thyroid gland" EXACT [NCIT:C8054]
synonym: "follicular cancer of thyroid" EXACT [NCIT:C8054]
synonym: "follicular cancer of thyroid gland" EXACT [NCIT:C8054]
synonym: "follicular carcinoma" EXACT [DOID:3962, NCIT:C8054]
synonym: "follicular carcinoma of the thyroid" EXACT [NCIT:C8054]
synonym: "follicular carcinoma of the thyroid gland" EXACT [DOID:3962, NCIT:C8054]
synonym: "follicular carcinoma of thyroid" EXACT [NCIT:C8054]
synonym: "follicular carcinoma of thyroid gland" EXACT [NCIT:C8054]
synonym: "follicular thyroid cancer" EXACT [NCIT:C8054]
synonym: "follicular thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C8054]
synonym: "follicular thyroid gland carcinoma" EXACT [NCIT:C8054]
synonym: "thyroid adenocarcinoma" EXACT EXCLUDE [DOID:3962]
synonym: "thyroid follicle carcinoma" EXACT []
synonym: "thyroid follicular carcinoma" EXACT [NCIT:C8054]
synonym: "thyroid gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "thyroid gland follicular cancer" EXACT [NCIT:C8054]
synonym: "thyroid gland follicular carcinoma" EXACT [NCIT:C8054]
synonym: "well-differentiated follicular adenocarcinoma" EXACT [NCIT:C8054]
synonym: "well-differentiated follicular carcinoma" EXACT [NCIT:C8054]
xref: DOID:3962 {source="MONDO:equivalentTo", source="EFO:0000501"}
xref: EFO:0000501 {source="MONDO:equivalentTo"}
xref: HP:0006731 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:8330/3 {source="NCIT:C8054"}
xref: ICDO:8331/3 {source="NCIT:C8054"}
xref: MESH:D018263 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501", source="MONDO:ontobio"}
xref: NCIT:C8054 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"}
xref: ONCOTREE:THFO {source="MONDO:equivalentTo"}
xref: SCTID:255028004 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501", source="MONDO:kboom-pr-0.97/0.92/0.62"}
is_a: MONDO:0015447 {source="EFO:0000501", source="NCIT:C8054", source="ONCOTREE:THFO"} ! differentiated thyroid carcinoma
is_a: MONDO:0024622 ! thyroid gland adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/189642005
property_value: closeMatch http://identifiers.org/snomedct/28173006
property_value: closeMatch http://identifiers.org/snomedct/5257006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206682
property_value: exactMatch DOID:3962
property_value: exactMatch http://identifiers.org/mesh/D018263
property_value: exactMatch http://identifiers.org/snomedct/255028004
property_value: exactMatch NCIT:C8054

[Term]
id: MONDO:0005035
name: ganglioneuroblastoma (disease)
def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." [NCIT:C3790]
subset: ordo_disease {source="Orphanet:251877"}
synonym: "ganglioneuroblastoma" EXACT [MONDO:ambiguous, NCIT:C3790]
synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [DOID:4163]
synonym: "ganglioneuroblastoma, malignant" EXACT [NCIT:C3790]
xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"}
xref: EFO:0000502 {source="MONDO:equivalentTo"}
xref: HP:0006747 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9490/3 {source="NCIT:C3790"}
xref: MedDRA:10017708 {source="ORDO:251877/e", source="Orphanet:251877"}
xref: NCIT:C3790 {source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"}
xref: NIFSTD:birnlex_12633 {source="EFO:0000502"}
xref: ONCOTREE:GNBL {source="MONDO:equivalentTo"}
xref: Orphanet:251877 {source="MONDO:equivalentTo"}
xref: SCTID:116381000119105 {source="MONDO:kboom-pr-1.00/0.84/14.96", source="MONDO:equivalentTo", source="DOID:4163"}
xref: UMLS:C0206718 {source="NCIT:C3790", source="MONDO:equivalentTo", source="ORDO:251877/e", source="DOID:4163", source="Orphanet:251877"}
is_a: MONDO:0006316 {source="NCIT:C3790"} ! neuroblastic tumor
relationship: excluded_subClassOf MONDO:0005072 {source="DOID:4163"} ! neuroblastoma
property_value: closeMatch http://identifiers.org/mesh/D018305
property_value: closeMatch http://identifiers.org/snomedct/69515008
property_value: exactMatch DOID:4163
property_value: exactMatch http://identifiers.org/meddra/10017708
property_value: exactMatch http://identifiers.org/snomedct/116381000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206718
property_value: exactMatch NCIT:C3790
property_value: exactMatch Orphanet:251877

[Term]
id: MONDO:0005036
name: gastric adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the stomach" [MONDO:DesignPattern]
synonym: "adenocarcinoma - stomach" EXACT [NCIT:C4004]
synonym: "adenocarcinoma of stomach" EXACT [NCIT:C4004]
synonym: "adenocarcinoma of the stomach" EXACT [NCIT:C4004]
synonym: "gastric (stomach) adenocarcinoma" EXACT [NCIT:C4004]
synonym: "gastric adenocarcinoma" EXACT [NCIT:C4004]
synonym: "STAD" RELATED [ONCOTREE:STAD]
synonym: "stomach adenocarcinoma" EXACT [DOID:3717, MONDO:patterns/location, NCIT:C4004]
xref: DOID:3717 {source="MONDO:equivalentTo", source="EFO:0000503"}
xref: EFO:0000503 {source="MONDO:equivalentTo"}
xref: NCIT:C4004 {source="MONDO:equivalentTo", source="EFO:0000503", source="DOID:3717", source="exact-label-match"}
xref: ONCOTREE:STAD {source="MONDO:equivalentTo"}
xref: SCTID:408647009 {source="MONDO:equivalentTo", source="EFO:0000503", source="DOID:3717"}
xref: UMLS:C0278701 {source="MONDO:equivalentTo", source="NCIT:C4004", source="DOID:3717"}
is_a: MONDO:0004950 {source="DOID:3717", source="MONDO:Redundant", source="MONDOLEX:0005036", source="NCIT:C4004"} ! gastric carcinoma
is_a: MONDO:0004970 {source="DOID:3717", source="EFO:0000503", source="MONDO:Redundant", source="MONDOLEX:0005036", source="NCIT:C4004", source="linkedlifedata"} ! adenocarcinoma
property_value: exactMatch DOID:3717
property_value: exactMatch http://identifiers.org/snomedct/408647009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278701
property_value: exactMatch NCIT:C4004

[Term]
id: MONDO:0005037
name: gastric intestinal type adenocarcinoma
def: "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." [NCIT:P378]
synonym: "gastric intestinal type adenocarcinoma" EXACT [NCIT:C9157]
synonym: "gastric intestinal-type adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal adenocarcinoma of stomach" EXACT [NCIT:C9157]
synonym: "intestinal adenocarcinoma of the stomach" EXACT [NCIT:C9157]
synonym: "intestinal gastric adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal stomach adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal type stomach adenocarcinoma" RELATED [ONCOTREE:ISTAD]
xref: EFO:0000504 {source="MONDO:equivalentTo"}
xref: NCIT:C9157 {source="MONDO:equivalentTo", source="EFO:0000504", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:ISTAD {source="MONDO:equivalentTo"}
xref: UMLS:C0279633 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9157", source="MONDO:equivalentTo"}
is_a: MONDO:0005036 {source="MONDO:Redundant", source="MONDOLEX:0005037", source="NCIT:C9157/inferred", source="ONCOTREE:ISTAD"} ! gastric adenocarcinoma
is_a: MONDO:0005814 ! intestinal cancer
is_a: MONDO:0006254 {source="MONDO:Redundant", source="MONDOLEX:0005037", source="NCIT:C9157"} ! intestinal type adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279633
property_value: exactMatch NCIT:C9157

[Term]
id: MONDO:0005038
name: obsolete genetic disorder
is_obsolete: true
replaced_by: MONDO:0003847

[Term]
id: MONDO:0005039
name: reproductive system disease
def: "A disease involving the reproductive system." [MONDO:DesignPattern]
synonym: "disease of reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of reproductive system" EXACT []
synonym: "disorder of reproductive system" EXACT [MONDO:patterns/location_top, NCIT:C4875]
synonym: "disorder of reproductive system" RELATED [MONDO:patterns/location_top]
synonym: "genital disorders" EXACT [NCIT:C4875]
synonym: "genital system disease" EXACT [DOID:15]
synonym: "reproductive disease" EXACT [DOID:15]
synonym: "reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C4875]
synonym: "reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "reproductive system disorder" EXACT [NCIT:C4875]
xref: DOID:15 {source="MONDO:equivalentTo", source="EFO:0000512"}
xref: EFO:0000512 {source="MONDO:equivalentTo"}
xref: NCIT:C4875 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:362968007 {source="MONDO:equivalentTo", source="EFO:0000512"}
xref: UMLS:C0178829 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4875"}
xref: Wikipedia:Reproductive_system_disease {source="EFO:0000512"}
is_a: MONDO:0021145 {source="linkedlifedata"} ! disease of genitourinary system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335037
property_value: closeMatch NCIT:C27613
property_value: exactMatch DOID:15
property_value: exactMatch http://identifiers.org/snomedct/362968007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178829
property_value: exactMatch NCIT:C4875

[Term]
id: MONDO:0005040
name: germ cell tumor
def: "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C3708]
subset: gard_rare
synonym: "germ cell cancer" RELATED [DOID:2994]
synonym: "germ cell neoplasm" EXACT [CSP2005:2016-0850, DOID:2994, NCIT:C3708]
synonym: "germ cell tumor" EXACT [NCIT:C3708]
synonym: "germ cell tumour" RELATED [DOID:2994]
synonym: "germ cells tumors" RELATED [GARD:0013022]
synonym: "malignant tumor of the germ cell" EXACT EXCLUDE [DOID:2994]
synonym: "neoplasm of germ cell" EXACT [NCIT:C3708]
synonym: "neoplasm of the germ cell" EXACT [NCIT:C3708]
synonym: "tumor of germ cell" EXACT [NCIT:C3708]
synonym: "tumor of the germ cell" EXACT [NCIT:C3708]
xref: DOID:2994 {source="MONDO:equivalentTo", source="EFO:0000514"}
xref: EFO:0000514 {source="MONDO:equivalentTo"}
xref: GARD:0013022 {source="MONDO:equivalentTo"}
xref: NCIT:C3708 {source="DOID:2994", source="MONDO:equivalentTo", source="EFO:0000514"}
xref: UMLS:C0205851 {source="DOID:2994", source="NCIT:C3708", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="DOID:2994/inferred", source="EFO:0000514", source="MONDO:Redundant", source="MONDOLEX:0005040", source="NCIT:C3708/inferred", source="OWLReasoner:2017"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/115233005
property_value: closeMatch http://identifiers.org/snomedct/189839002
property_value: closeMatch http://identifiers.org/snomedct/189854008
property_value: closeMatch http://identifiers.org/snomedct/28307001
property_value: closeMatch http://identifiers.org/snomedct/302853003
property_value: exactMatch DOID:2994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205851
property_value: exactMatch NCIT:C3708

[Term]
id: MONDO:0005041
name: glaucoma (disease)
def: "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." [NCIT:P378]
synonym: "glaucoma" EXACT [MONDO:ambiguous]
xref: COHD:437541 {source="MONDO:equivalentTo"}
xref: DOID:1686 {source="MONDO:equivalentTo", source="EFO:0000516"}
xref: EFO:0000516 {source="MONDO:equivalentTo", source="DOID:1686"}
xref: HP:0000501 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H40 {source="DOID:1686"}
xref: ICD10:H40-H42 {source="DOID:1686"}
xref: ICD10:H40.9 {source="DOID:1686"}
xref: ICD10:H40.H42 {source="MONDO:equivalentTo"}
xref: ICD9:365 {source="DOID:1686", source="EFO:0000516"}
xref: ICD9:365.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:365.9 {source="MONDO:equivalentTo", source="DOID:1686", source="i2s"}
xref: MESH:D005901 {source="MONDO:equivalentTo", source="DOID:1686", source="MONDO:ontobio", source="EFO:0000516"}
xref: NCIT:C26782 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1686", source="EFO:0000516"}
xref: SCTID:23986001 {source="MONDO:equivalentTo", source="DOID:1686", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0000516"}
xref: UMLS:C0017601 {source="NCIT:C26782", source="MONDO:equivalentTo", source="DOID:1686"}
is_a: MONDO:0005328 {source="DOID:1686", source="MESH:D005901/inferred", source="NCIT:C26782/inferred", source="linkedlifedata"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155120009
property_value: closeMatch http://identifiers.org/snomedct/193569008
property_value: closeMatch http://identifiers.org/snomedct/194631001
property_value: exactMatch DOID:1686
property_value: exactMatch http://identifiers.org/mesh/D005901
property_value: exactMatch http://identifiers.org/snomedct/23986001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017601
property_value: exactMatch NCIT:C26782

[Term]
id: MONDO:0005042
name: head disease
def: "A disease involving the head." [MONDO:patterns/location_top]
synonym: "disease of head" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of head" EXACT []
synonym: "disorder of head" EXACT [MONDO:patterns/location_top]
synonym: "disorder of head" RELATED [MONDO:patterns/location_top]
synonym: "head disease" EXACT [MONDO:patterns/location]
synonym: "head disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0000524 {source="MONDO:equivalentTo"}
xref: SCTID:118934005 {source="MONDO:equivalentTo"}
xref: UMLS:C1290856 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021059 ! head or neck disease/disorder
property_value: exactMatch http://identifiers.org/snomedct/118934005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290856

[Term]
id: MONDO:0005043
name: hyperplasia
def: "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." [NCIT:C3113]
synonym: "hyperplasia" EXACT [NCIT:C3113]
synonym: "hyperplastic" EXACT [NCIT:C3113]
xref: EFO:0000536 {source="MONDO:equivalentTo"}
xref: MESH:D006965 {source="MONDO:equivalentTo", source="EFO:0000536", source="MONDO:ontobio"}
xref: NCIT:C3113 {source="MONDO:equivalentTo", source="EFO:0000536", source="exact-label-match"}
is_a: MONDO:0045024 {source="MONDO:Redundant", source="MONDO:cjm"} ! cell proliferation disorder
property_value: closeMatch http://identifiers.org/snomedct/76197007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020507
property_value: exactMatch http://identifiers.org/mesh/D006965
property_value: exactMatch NCIT:C3113

[Term]
id: MONDO:0005044
name: hypertensive disorder
def: "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." [MESH:D006973]
synonym: "blood pressure, high" EXACT [NCIT:C3117]
synonym: "blood pressure, increased" EXACT [NCIT:C3117]
synonym: "high blood pressure" EXACT [DOID:10763]
synonym: "HTN" BROAD [CSP2005:0571-5243, DOID:10763]
synonym: "hyperpiesia" EXACT [CSP2005:4003-0017, DOID:10763]
synonym: "hypertension" RELATED [DOID:10763]
synonym: "hypertensive disease" EXACT [DOID:10763, MTH:NOCODE]
synonym: "increased blood pressure" EXACT [NCIT:C3117]
synonym: "pressure, high blood" EXACT [NCIT:C3117]
synonym: "vascular hypertensive disorder" EXACT [DOID:10763, NCIT:C3117]
xref: DOID:10763 {source="MONDO:equivalentTo", source="EFO:0000537"}
xref: EFO:0000537 {source="DOID:10763", source="MONDO:equivalentTo"}
xref: HP:0000822 {source="MONDO:otherHierarchy"}
xref: ICD10:I10 {source="DOID:10763"}
xref: ICD10:I10-I15 {source="DOID:10763"}
xref: ICD10:I15 {source="MONDO:equivalentTo"}
xref: ICD9:401-405.99 {source="DOID:10763", source="EFO:0000537"}
xref: ICD9:997.91 {source="DOID:10763"}
xref: MESH:D006973 {source="DOID:10763", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000537"}
xref: NCIT:C3117 {source="DOID:10763", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match", source="EFO:0000537"}
xref: SCTID:38341003 {source="DOID:10763", source="MONDO:kboom-pr-1.00/0.74/6.19", source="MONDO:equivalentTo"}
xref: UMLS:C0020538 {source="DOID:10763", source="MONDO:equivalentTo"}
is_a: MONDO:0000473 {source="DOID:10763"} ! arterial disorder
property_value: closeMatch http://identifiers.org/snomedct/155295004
property_value: closeMatch http://identifiers.org/snomedct/155302005
property_value: closeMatch http://identifiers.org/snomedct/194756002
property_value: closeMatch http://identifiers.org/snomedct/194757006
property_value: closeMatch http://identifiers.org/snomedct/194760004
property_value: closeMatch http://identifiers.org/snomedct/194794002
property_value: closeMatch http://identifiers.org/snomedct/195537001
property_value: closeMatch http://identifiers.org/snomedct/266287006
property_value: exactMatch DOID:10763
property_value: exactMatch http://identifiers.org/mesh/D006973
property_value: exactMatch http://identifiers.org/snomedct/38341003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020538
property_value: exactMatch NCIT:C3117

[Term]
id: MONDO:0005045
name: hypertrophic cardiomyopathy
def: "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." [NCIT:C34449]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:217569"}
synonym: "familial hypertrophic cardiomyopathy" NARROW [DOID:11984]
synonym: "HCM - hypertrophic cardiomyopathy" RELATED []
synonym: "hypertrophic cardiomyopathy" EXACT []
synonym: "hypertrophic obstructive cardiomyopathy" EXACT [DOID:11984]
synonym: "hypertrophic subaortic stenosis" EXACT [Orphanet:217569]
synonym: "obstructive hypertrophic cardiomyopathy" EXACT [Orphanet:217569]
xref: COHD:4124693 {source="MONDO:equivalentTo"}
xref: DOID:11984 {source="MONDO:equivalentTo", source="EFO:0000538"}
xref: EFO:0000538 {source="MONDO:equivalentTo"}
xref: ICD10:I42.1 {source="DOID:11984", source="MONDO:equivalentTo"}
xref: ICD9:425.1 {source="DOID:11984", source="EFO:0000538"}
xref: ICD9:425.11 {source="DOID:11984"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:05410 {source="DOID:11984", source="MONDO:equivalentTo"}
xref: MedDRA:10020871 {source="ORDO:217569/e", source="Orphanet:217569"}
xref: MESH:D002312 {source="ORDO:217569/e", source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="EFO:0000538"}
xref: NCIT:C34449 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"}
xref: OMIMPS:192600 {source="DOID:11984", source="MONDO:superClassOf"}
xref: Orphanet:217569 {source="MONDO:equivalentTo"}
xref: SCTID:233873004 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"}
xref: UMLS:C0007194 {source="ORDO:217569/e", source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="NCIT:C34449"}
is_a: MONDO:0000591 {source="DOID:11984", source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/15471000
property_value: closeMatch http://identifiers.org/snomedct/155351008
property_value: closeMatch http://identifiers.org/snomedct/266301006
property_value: closeMatch http://identifiers.org/snomedct/389998005
property_value: closeMatch http://identifiers.org/snomedct/389999002
property_value: closeMatch http://identifiers.org/snomedct/45227007
property_value: closeMatch http://identifiers.org/snomedct/83978005
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:11984
property_value: exactMatch http://identifiers.org/meddra/10020871
property_value: exactMatch http://identifiers.org/mesh/D002312
property_value: exactMatch http://identifiers.org/snomedct/233873004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007194
property_value: exactMatch NCIT:C34449
property_value: exactMatch Orphanet:217569

[Term]
id: MONDO:0005046
name: immune system disease
def: "A disorder resulting from an abnormality in the immune system." [NCIT:C3507]
synonym: "disease of immune system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of immune system" EXACT []
synonym: "disorder of immune system" EXACT [MONDO:patterns/location_top, NCIT:C3507]
synonym: "disorder of immune system" RELATED [MONDO:patterns/location_top]
synonym: "immune disease" EXACT [DOID:2914]
synonym: "immune disorder" EXACT [NCIT:C3507]
synonym: "immune disorder, NOS" RELATED EXCLUDE [NCIT:C3507]
synonym: "immune dysfunction" EXACT [NCIT:C3507]
synonym: "immune system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "immune system disorder" EXACT [NCIT:C3507]
xref: DOID:2914 {source="EFO:0000540", source="MONDO:equivalentTo"}
xref: EFO:0000540 {source="MONDO:equivalentTo", source="DOID:2914"}
xref: ICD10:D89.9 {source="DOID:2914"}
xref: ICD9:279 {source="EFO:0000540", source="DOID:2914"}
xref: ICD9:279.1 {source="EFO:0000540"}
xref: ICD9:279.10 {source="EFO:0000540"}
xref: ICD9:279.19 {source="EFO:0000540"}
xref: ICD9:279.4 {source="EFO:0000540"}
xref: ICD9:279.49 {source="EFO:0000540"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="EFO:0000540", source="i2s"}
xref: ICD9:279.9 {source="EFO:0000540", source="MONDO:equivalentTo", source="i2s", source="DOID:2914"}
xref: MESH:D007154 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3507 {source="MONDO:equivalentTo"}
xref: SCTID:414029004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.79/0.38"}
is_a: MONDO:0021199 {source="DOID:2914", source="MONDO:metaclass"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/154782004
property_value: closeMatch http://identifiers.org/snomedct/191015009
property_value: closeMatch http://identifiers.org/snomedct/191019003
property_value: closeMatch http://identifiers.org/snomedct/191035005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021053
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041806
property_value: closeMatch NCIT:C27351
property_value: exactMatch DOID:2914
property_value: exactMatch http://identifiers.org/mesh/D007154
property_value: exactMatch http://identifiers.org/snomedct/414029004
property_value: exactMatch NCIT:C3507

[Term]
id: MONDO:0005047
name: infertility disorder
def: "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." [NCIT:C3836]
comment: Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting
subset: clingen
synonym: "fertility disorders" EXACT [NCIT:C3836]
synonym: "infertile" EXACT [NCIT:C3836]
synonym: "infertility" RELATED [DOID:5223]
synonym: "Sterile" EXACT [NCIT:C3836]
synonym: "sterile" EXACT [NCIT:C3836]
synonym: "sterility" EXACT [NCIT:C3836]
xref: DOID:5223 {source="MONDO:equivalentTo", source="EFO:0000545"}
xref: EFO:0000545 {source="MONDO:equivalentTo"}
xref: MESH:D007246 {source="DOID:5223", source="MONDO:equivalentTo", source="EFO:0000545", source="MONDO:ontobio"}
xref: NCIT:C3836 {source="DOID:5223", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000545", source="exact-label-match"}
is_a: MONDO:0005039 {source="DOID:5223", source="EFO:0000545", source="MESH:D007246/inferred"} ! reproductive system disease
property_value: closeMatch http://identifiers.org/snomedct/15296000
property_value: closeMatch http://identifiers.org/snomedct/162186008
property_value: closeMatch http://identifiers.org/snomedct/261029002
property_value: closeMatch http://identifiers.org/snomedct/289179008
property_value: closeMatch http://identifiers.org/snomedct/8619003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021359
property_value: exactMatch DOID:5223
property_value: exactMatch http://identifiers.org/mesh/D007246
property_value: exactMatch NCIT:C3836

[Term]
id: MONDO:0005048
name: pancreatic insulin-producing neuroendocrine tumor
def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." [NCIT:C3140]
synonym: "beta cell neoplasm" EXACT [NCIT:C3140]
synonym: "Beta cell tumor" EXACT [NCIT:C3140]
synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140]
synonym: "Beta cell tumor of the pancreas" EXACT [NCIT:C3140]
synonym: "beta cell tumor of the pancreas" EXACT [NCIT:C3140]
synonym: "insulin-producing islet cell tumor" EXACT [NCIT:C3140]
synonym: "insulin-producing tumor of islet cells" EXACT [NCIT:C3140]
synonym: "insulin-producing tumor of the islet cells" EXACT [NCIT:C3140]
synonym: "pancreatic Beta cell tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing neoplasm" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing NET" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140]
xref: ICDO:8151/0 {source="NCIT:C3140"}
xref: ICDO:8151/1 {source="NCIT:C3140"}
xref: NCIT:C3140 {source="MONDO:equivalentTo"}
xref: Orphanet:97279 {source="MONDO:equivalentTo"}
is_a: MONDO:0019954 {source="MONDOLEX:0005048", source="NCIT:C3140", source="Orphanet:97279", source="Orphanet:97279/inferred"} ! pancreatic neuroendocrine tumor
property_value: closeMatch http://identifiers.org/snomedct/134154009
property_value: closeMatch http://identifiers.org/snomedct/189586007
property_value: closeMatch http://identifiers.org/snomedct/25324008
property_value: closeMatch http://identifiers.org/snomedct/76345009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021670
property_value: exactMatch NCIT:C3140
property_value: exactMatch Orphanet:97279

[Term]
id: MONDO:0005049
name: intracranial hemorrhage
def: "Bleeding within the cranium." [NCIT:P378]
comment: Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207
xref: EFO:0000551 {source="MONDO:equivalentTo"}
xref: ICD9:432.9 {source="EFO:0000551"}
xref: MESH:D020300 {source="EFO:0000551", source="MONDO:equivalentTo"}
xref: UMLS:CN236663 {source="MONDO:equivalentTo"}
is_a: MONDO:0011057 {source="MESH:D020300"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/1386000
property_value: exactMatch http://identifiers.org/mesh/D020300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236663
property_value: exactMatch NCIT:C50438

[Term]
id: MONDO:0005050
name: invasive ductal and lobular carcinoma
def: "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." [NCIT:C7688]
synonym: "infiltrating ductal and lobular carcinoma" EXACT [NCIT:C7688]
synonym: "invasive duct and lobular carcinoma" EXACT [NCIT:C7688]
synonym: "invasive ductal and lobular carcinoma" EXACT [NCIT:C7688]
xref: EFO:0000552 {source="MONDO:equivalentTo"}
xref: ICDO:8522/3 {source="NCIT:C7688"}
xref: NCIT:C7688 {source="EFO:0000552", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334277 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7688"}
is_a: MONDO:0004953 {source="EFO:0000552"} ! invasive ductal breast carcinoma
is_a: MONDO:0006306 {source="MONDO:Redundant", source="NCIT:C7688"} ! mixed lobular and ductal breast carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334277
property_value: exactMatch NCIT:C7688

[Term]
id: MONDO:0005051
name: invasive lobular breast carcinoma
def: "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." [NCIT:C7950]
synonym: "breast invasive lobular carcinoma" RELATED [ONCOTREE:ILC]
synonym: "classic invasive lobular carcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular adenocarcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular breast carcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular carcinoma of breast" EXACT [NCIT:C7950]
synonym: "infiltrating lobular carcinoma of the breast" EXACT [NCIT:C7950]
synonym: "invasive lobular adenocarcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular breast carcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma of breast" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma of the breast" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma, classic type" EXACT [NCIT:C7950]
synonym: "lobular carcinoma" EXACT [DOID:3457]
synonym: "lobular carcinoma (morphologic abnormality)" BROAD [DOID:3457]
synonym: "lobular carcinoma NOS (morphologic abnormality)" BROAD [DOID:3457]
synonym: "lobular carcinoma of breast" EXACT EXCLUDE [DOID:3457]
synonym: "lobular carcinoma of the breast" BROAD [DOID:3457]
xref: DOID:3457 {source="MONDO:equivalentTo", source="EFO:0000553"}
xref: EFO:0000553 {source="MONDO:equivalentTo"}
xref: NCIT:C7950 {source="MONDO:equivalentTo", source="EFO:0000553"}
xref: ONCOTREE:ILC {source="MONDO:equivalentTo"}
xref: UMLS:C0206692 {source="MONDO:equivalentTo", source="DOID:3457"}
xref: UMLS:C0279565 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7950", source="MONDO:equivalentTo"}
is_a: MONDO:0000552 {source="DOID:3457", source="MONDO:Redundant", source="NCIT:C7950"} ! breast lobular carcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C7950", source="ONCOTREE:ILC"} ! invasive breast carcinoma
property_value: closeMatch http://identifiers.org/mesh/D018275
property_value: closeMatch http://identifiers.org/snomedct/189713007
property_value: closeMatch http://identifiers.org/snomedct/89740008
property_value: exactMatch DOID:3457
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279565
property_value: exactMatch NCIT:C7950

[Term]
id: MONDO:0005052
name: irritable bowel syndrome
def: "Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause." [NCIT:C82343]
comment: Editor note: consider merging with MONDO:0005265
synonym: "IBD" EXACT [CSP2005:1248-5871, DOID:9778]
synonym: "IBS" EXACT [NCIT:C82343]
synonym: "irritable bowel syndrome" EXACT [NCIT:C82343]
synonym: "irritable colon" EXACT [DOID:9778, MTHICD9_2006:564.1, NCIT:C82343]
synonym: "mucus colitis" EXACT [NCIT:C82343]
synonym: "psychogenic IBS" RELATED [DOID:9778]
synonym: "spastic colon" EXACT [NCIT:C82343]
xref: COHD:75576 {source="MONDO:equivalentTo"}
xref: DOID:9778 {source="MONDO:equivalentTo", source="EFO:0000555"}
xref: EFO:0000555 {source="MONDO:equivalentTo"}
xref: ICD10:K58 {source="DOID:9778", source="MONDO:equivalentTo"}
xref: ICD10:K58.9 {source="DOID:9778"}
xref: ICD9:564.1 {source="DOID:9778", source="MONDO:equivalentTo", source="i2s", source="EFO:0000555"}
xref: MESH:D043183 {source="DOID:9778", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="EFO:0000555", source="MONDO:ontobio"}
xref: NCIT:C82343 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555", source="MONDO:kboom-pr-0.95/0.88/0.67"}
xref: SCTID:10743008 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022104 {source="DOID:9778", source="MONDO:equivalentTo", source="NCIT:C82343"}
is_a: MONDO:0002254 {source="DOID:9778", source="MONDOLEX:0005052", source="NCIT:C82343"} ! syndromic disease
is_a: MONDO:0005020 {source="EFO:0000555", source="MESH:D043183/inferred", source="NCIT:C82343/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/155783000
property_value: closeMatch http://identifiers.org/snomedct/192434000
property_value: closeMatch http://identifiers.org/snomedct/197124009
property_value: closeMatch http://identifiers.org/snomedct/266525002
property_value: exactMatch DOID:9778
property_value: exactMatch http://identifiers.org/mesh/D043183
property_value: exactMatch http://identifiers.org/snomedct/10743008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022104
property_value: exactMatch NCIT:C82343

[Term]
id: MONDO:0005053
name: ischemic disease
def: "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." [NCIT:C34738]
comment: Editor note: represented as a finding in other ontologies
synonym: "ischemia" RELATED [DOID:326, NCIT:C34738]
xref: DOID:326 {source="MONDO:equivalentTo", source="EFO:0000556"}
xref: EFO:0000556 {source="MONDO:equivalentTo"}
xref: MESH:D007511 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556", source="MONDO:ontobio"}
xref: NCIT:C34738 {source="DOID:326", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0000556"}
xref: SCTID:52674009 {source="DOID:326", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000556"}
is_a: MONDO:0005385 {source="DOID:326", source="linkedlifedata", source="linkedlifedata/inferred"} ! vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022116
property_value: exactMatch DOID:326
property_value: exactMatch http://identifiers.org/mesh/D007511
property_value: exactMatch http://identifiers.org/snomedct/52674009
property_value: exactMatch NCIT:C34738

[Term]
id: MONDO:0005054
name: obsolete juvenile dermatomyositis
is_obsolete: true
replaced_by: MONDO:0008054

[Term]
id: MONDO:0005055
name: Kaposi's sarcoma (disease)
def: "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." [NCIT:P378]
subset: ordo_disease {source="Orphanet:33276"}
synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [DOID:8632]
synonym: "anal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "cardiac Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "central nervous system Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "conjunctival Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "corneal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "cutaneous Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "esophageal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "gallbladder Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "gastric Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "HHV8" RELATED [GARD:0006814]
synonym: "human herpesvirus 8" RELATED [GARD:0006814]
synonym: "intestinal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "Kaposi sarcoma" EXACT [DOID:8632, MONDO:0018049, NCIT:C9087]
synonym: "Kaposi sarcoma herpesvirus" RELATED [GARD:0006814]
synonym: "Kaposi's sarcoma" EXACT [MONDO:ambiguous, NCIT:C9087]
synonym: "Kaposi's sarcoma of anus" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of central nervous system" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of conjunctiva" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of cornea" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of esophagus" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of heart" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of lung" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of lymph nodes" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of palate" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of penis" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of skin" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of soft tissue" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of soft tissues" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of the CNS" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of the gallbladder" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of the prostate" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma, lung" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma, skin" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [DOID:8632]
synonym: "KS" EXACT [NCIT:C9087]
synonym: "KSHV" RELATED [GARD:0006814]
synonym: "lymph node Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "Mediterranean Kaposi sarcoma" RELATED [GARD:0006814]
synonym: "multiple hemorrhagic sarcoma" NARROW [NCIT:C9087]
synonym: "non AIDS related Kaposi sarcoma" RELATED [GARD:0006814]
synonym: "palate Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "penis Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "prostate Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "pulmonary Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "soft tissue Kaposi's sarcoma" NARROW [DOID:8632]
xref: COHD:434584 {source="MONDO:equivalentTo"}
xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"}
xref: EFO:0000558 {source="MONDO:equivalentTo"}
xref: GARD:0006814 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0100726 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C46.0 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.1 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.2 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.3 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.7 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.8 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD10:C46.9 {source="ORDO:33276/btnt", source="Orphanet:33276"}
xref: ICD9:176 {source="DOID:8632", source="EFO:0000558"}
xref: ICD9:176.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:176.9 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9140/3 {source="NCIT:C9087"}
xref: MedDRA:10023284 {source="ORDO:33276/e", source="Orphanet:33276"}
xref: MESH:D012514 {source="DOID:8632", source="MONDO:equivalentTo", source="ORDO:33276/e", source="Orphanet:33276"}
xref: NCIT:C9087 {source="DOID:8632", source="MONDO:equivalentTo", source="EFO:0000558"}
xref: Orphanet:33276 {source="MONDO:equivalentTo"}
xref: SCTID:109385007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.44/0.12"}
is_a: MONDO:0015157 {source="Orphanet:33276"} ! human herpesvirus 8-related tumor
is_a: MONDO:0016982 ! angiosarcoma (disease)
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:8632"} ! connective tissue cancer
property_value: closeMatch http://identifiers.org/snomedct/49937004
property_value: exactMatch DOID:8632
property_value: exactMatch http://identifiers.org/meddra/10023284
property_value: exactMatch http://identifiers.org/mesh/D012514
property_value: exactMatch http://identifiers.org/snomedct/109385007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036220
property_value: exactMatch NCIT:C9087
property_value: exactMatch Orphanet:33276

[Term]
id: MONDO:0005056
name: keratinizing squamous cell carcinoma
def: "Squamous cell carcinomas with morphologically prominent production of keratin." [NCIT:C4105]
synonym: "keratinizing epidermoid carcinoma" EXACT [DOID:5521]
synonym: "keratinizing squamous cell carcinoma" EXACT [DOID:5521, NCIT:C4105]
synonym: "squamous cell carcinoma, keratinizing" EXACT [DOID:5521]
synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [DOID:5521]
xref: DOID:5521 {source="MONDO:equivalentTo", source="EFO:0000559"}
xref: EFO:0000559 {source="MONDO:equivalentTo"}
xref: ICDO:8071/3 {source="NCIT:C4105"}
xref: NCIT:C4105 {source="DOID:5521", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0000559"}
xref: UMLS:C0334247 {source="DOID:5521", source="MONDO:equivalentTo", source="NCIT:C4105"}
is_a: MONDO:0005096 {source="DOID:5521", source="EFO:0000559", source="MONDOLEX:0005056", source="NCIT:C4105"} ! squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/18048008
property_value: closeMatch http://identifiers.org/snomedct/189568009
property_value: exactMatch DOID:5521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334247
property_value: exactMatch NCIT:C4105

[Term]
id: MONDO:0005057
name: large cell neuroendocrine carcinoma
def: "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." [NCIT:C6875]
synonym: "large cell NEC" EXACT [NCIT:C6875]
synonym: "large cell neuroendocrine carcinoma" EXACT [NCIT:C6875]
synonym: "large-cell neuroendocrine carcinoma" EXACT [NCIT:C6875]
synonym: "LCNEC" EXACT [NCIT:C6875]
xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo", source="implicitly refers to subclass"}
xref: EFO:0000563 {source="MONDO:equivalentTo"}
xref: ICDO:8013/3 {source="NCIT:C6875"}
xref: NCIT:C6875 {source="EFO:0000563", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LUNE {source="MONDO:equivalentTo"}
xref: UMLS:C1265996 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6875"}
is_a: MONDO:0002120 {source="MONDO:Redundant", source="MONDOLEX:0005057", source="NCIT:C6875"} ! neuroendocrine carcinoma
is_a: MONDO:0005232 {source="DOID:0050872/inferred", source="MONDO:Redundant", source="NCIT:C6875"} ! large cell carcinoma
intersection_of: MONDO:0002120 {source="NCIT:C6875"} ! neuroendocrine carcinoma
intersection_of: MONDO:0005232 {source="NCIT:C6875"} ! large cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128628002
property_value: exactMatch DOID:0050872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1265996
property_value: exactMatch NCIT:C6875

[Term]
id: MONDO:0005058
name: leiomyosarcoma
def: "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." [NCIT:C3158]
subset: gard_rare {source="GARD:0006880"}
subset: ordo_disease {source="Orphanet:64720"}
synonym: "leiomyosarcoma" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma - not uterine" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma, malignant" EXACT [NCIT:C3158]
synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158]
xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"}
xref: EFO:0000564 {source="MONDO:equivalentTo"}
xref: GARD:0006880 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="Orphanet:64720", source="ORDO:64720/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8890/3 {source="NCIT:C3158"}
xref: MedDRA:10024189 {source="ORDO:64720/e", source="Orphanet:64720"}
xref: MESH:D007890 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"}
xref: NCIT:C3158 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"}
xref: ONCOTREE:LMS {source="MONDO:equivalentTo"}
xref: Orphanet:64720 {source="MONDO:equivalentTo"}
xref: SCTID:443719001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000564", source="DOID:1967"}
xref: UMLS:C0023269 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="NCIT:C3158", source="DOID:1967"}
is_a: MONDO:0002924 {source="DOID:1967", source="NCIT:C3158"} ! smooth muscle cancer
is_a: MONDO:0017345 {source="Orphanet:64720"} ! Epstein-Barr virus-associated mesenchymal tumor
is_a: MONDO:0018078 {source="Orphanet:64720"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189790006
property_value: closeMatch http://identifiers.org/snomedct/51549004
property_value: exactMatch DOID:1967
property_value: exactMatch http://identifiers.org/meddra/10024189
property_value: exactMatch http://identifiers.org/mesh/D007890
property_value: exactMatch http://identifiers.org/snomedct/443719001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023269
property_value: exactMatch NCIT:C3158
property_value: exactMatch Orphanet:64720
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma xsd:anyURI {source="GARD:0006880"}

[Term]
id: MONDO:0005059
name: leukemia (disease)
def: "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." [NCIT:C3161]
synonym: "blood (leukemia)" EXACT [NCIT:C3161]
synonym: "leukemia" EXACT [MONDO:ambiguous, NCIT:C3161]
synonym: "leukemia NOS" RELATED EXCLUDE [NCIT:C3161]
synonym: "leukemia, disease" EXACT [NCIT:C3161]
synonym: "leukemia, malignant" EXACT [NCIT:C3161]
synonym: "leukemia, NOS" RELATED EXCLUDE [NCIT:C3161]
synonym: "leukemias" EXACT [NCIT:C3161]
synonym: "leukemias, general" EXACT [NCIT:C3161]
xref: DOID:1240 {source="EFO:0000565", source="MONDO:equivalentTo"}
xref: EFO:0000565 {source="MONDO:equivalentTo"}
xref: HP:0001909 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C95 {source="DOID:1240"}
xref: ICD10:C95.9 {source="DOID:1240"}
xref: ICD10:C95.90 {source="DOID:1240"}
xref: ICD9:207 {source="EFO:0000565"}
xref: ICD9:207.8 {source="EFO:0000565"}
xref: ICD9:207.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:208 {source="DOID:1240", source="EFO:0000565"}
xref: ICD9:208.8 {source="EFO:0000565"}
xref: ICD9:208.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:208.9 {source="DOID:1240", source="EFO:0000565"}
xref: ICD9:208.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9800/3 {source="NCIT:C3161"}
xref: MESH:D007938 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3161 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"}
xref: SCTID:93143009 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.04"}
xref: UMLS:C0023418 {source="NCIT:C3161", source="DOID:1240", source="MONDO:equivalentTo"}
is_a: MONDO:0005374 ! bone marrow neoplasm
is_a: MONDO:0044881 {source="NCIT:C3161"} ! hematopoietic and lymphoid cell neoplasm
relationship: excluded_subClassOf MONDO:0005157 {source="EFO:0000565"} ! lymphoid neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154598008
property_value: closeMatch http://identifiers.org/snomedct/188762002
property_value: closeMatch http://identifiers.org/snomedct/188767008
property_value: closeMatch http://identifiers.org/snomedct/190024009
property_value: closeMatch http://identifiers.org/snomedct/190025005
property_value: closeMatch http://identifiers.org/snomedct/190029004
property_value: closeMatch http://identifiers.org/snomedct/190071003
property_value: closeMatch http://identifiers.org/snomedct/255049003
property_value: closeMatch http://identifiers.org/snomedct/87163000
property_value: exactMatch DOID:1240
property_value: exactMatch http://identifiers.org/mesh/D007938
property_value: exactMatch http://identifiers.org/snomedct/93143009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023418
property_value: exactMatch NCIT:C3161

[Term]
id: MONDO:0005060
name: liposarcoma
def: "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." [NCIT:C3194]
subset: gard_rare {source="GARD:0006913"}
subset: ordo_disease {source="Orphanet:69078"}
synonym: "lip sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma" EXACT [NCIT:C3194]
synonym: "liposarcoma not otherwise specified" RELATED EXCLUDE [NCIT:C3194]
synonym: "liposarcoma, malignant" EXACT [NCIT:C3194]
synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma]
xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"}
xref: EFO:0000569 {source="MONDO:equivalentTo"}
xref: GARD:0006913 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:69078/ntbt", source="Orphanet:69078"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8850/3 {source="NCIT:C3194"}
xref: MedDRA:10024627 {source="ORDO:69078/e", source="Orphanet:69078"}
xref: MESH:D008080 {source="MONDO:equivalentTo", source="ORDO:69078/e", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"}
xref: NCIT:C3194 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"}
xref: ONCOTREE:LIPO {source="MONDO:equivalentTo"}
xref: Orphanet:69078 {source="MONDO:equivalentTo"}
xref: SCTID:254829001 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382", source="MONDO:kboom-pr-0.93/0.85/0.34"}
xref: UMLS:C0023827 {source="NCIT:C3194", source="MONDO:equivalentTo", source="ORDO:69078/e", source="Orphanet:69078", source="DOID:3382"}
is_a: MONDO:0002813 {source="DOID:3382", source="MONDO:Redundant", source="NCIT:C3194", source="linkedlifedata"} ! lipomatous cancer
is_a: MONDO:0018078 {source="Orphanet:69078"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189777004
property_value: closeMatch http://identifiers.org/snomedct/49430005
property_value: exactMatch DOID:3382
property_value: exactMatch http://identifiers.org/meddra/10024627
property_value: exactMatch http://identifiers.org/mesh/D008080
property_value: exactMatch http://identifiers.org/snomedct/254829001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023827
property_value: exactMatch NCIT:C3194
property_value: exactMatch Orphanet:69078
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6913/liposarcoma xsd:anyURI {source="GARD:0006913"}

[Term]
id: MONDO:0005061
name: lung adenocarcinoma
def: "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." [NCIT:C3512]
subset: gard_rare {source="GARD:0005742"}
synonym: "adenocarcinoma of lung" EXACT [DOID:3910, NCIT:C3512]
synonym: "adenocarcinoma of the lung" EXACT [NCIT:C3512]
synonym: "bronchogenic lung adenocarcinoma" EXACT [DOID:3910]
synonym: "lung adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C3512]
synonym: "non-small cell lung adenocarcinoma" EXACT [MONDO:0005474]
synonym: "nonsmall cell adenocarcinoma" EXACT [DOID:3910]
xref: DOID:3910 {source="MONDO:subClassOf", source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo"}
xref: EFO:0000571 {source="MONDO:equivalentTo", source="DOID:3910"}
xref: EFO:0005288 {source="MONDO:equivalentTo"}
xref: GARD:0005742 {source="MONDO:equivalentTo"}
xref: MESH:C538231 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910", source="MONDO:ontobio"}
xref: NCIT:C3512 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"}
xref: ONCOTREE:LUAD {source="MONDO:equivalentTo"}
xref: SCTID:254626006 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"}
xref: UMLS:C0152013 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:3910", source="NCIT:C3512"}
is_a: MONDO:0004970 {source="DOID:3910", source="EFO:0005288", source="MESH:C538231", source="MONDO:Redundant", source="MONDOLEX:0005061", source="NCIT:C3512/inferred", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0005233 {source="DOID:3910", source="EFO:0005288", source="NCIT:C3512", source="ONCOTREE:LUAD"} ! non-small cell lung carcinoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335060
property_value: closeMatch NCIT:C27745
property_value: exactMatch DOID:3910
property_value: exactMatch http://identifiers.org/mesh/C538231
property_value: exactMatch http://identifiers.org/snomedct/254626006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152013
property_value: exactMatch NCIT:C3512
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma xsd:anyURI {source="GARD:0005742"}

[Term]
id: MONDO:0005062
name: lymphoma
def: "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." [NCIT:C3208]
comment: This is potentially too broad as well as overlaps with leukemia and should be obsoleted. {source="EFO:0000574"}
subset: ordo_group_of_disorders {source="Orphanet:223735"}
synonym: "lymphoid cancer" EXACT [DOID:0060058]
synonym: "lymphoma" EXACT [MONDO:0016389, NCIT:C3208]
synonym: "lymphoma (Hodgkin and non-Hodgkin)" EXACT [NCIT:C3208]
synonym: "lymphoma (Hodgkin's and non-Hodgkin's)" EXACT [NCIT:C3208]
synonym: "lymphoma, malignant" EXACT [NCIT:C3208]
synonym: "lymphoma, NOS" RELATED EXCLUDE [NCIT:C3208]
synonym: "lymphomatous" EXACT [NCIT:C3208]
synonym: "malignant lymphoma" EXACT [MONDO:cjm, NCIT:C3208]
synonym: "MLYM" RELATED [ONCOTREE:MLYM]
xref: COHD:432571 {source="MONDO:equivalentTo"}
xref: DOID:0060058 {source="EFO:0000574", source="MONDO:equivalentTo"}
xref: EFO:0000574 {source="MONDO:equivalentTo"}
xref: GARD:0011955 {source="MONDO:equivalentTo"}
xref: ICD10:C85.9 {source="DOID:0060058"}
xref: ICD9:200.0 {source="EFO:0000574"}
xref: ICD9:200.1 {source="EFO:0000574"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9590/3 {source="NCIT:C3208"}
xref: MedDRA:10025310 {source="ORDO:223735/e", source="Orphanet:223735"}
xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735", source="MONDO:ontobio"}
xref: NCIT:C3208 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"}
xref: ONCOTREE:MLYM {source="MONDO:equivalentTo"}
xref: Orphanet:223735 {source="MONDO:equivalentTo"}
xref: SCTID:118600007 {source="MONDO:kboom-pr-1.00/0.75/7.09", source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"}
xref: UMLS:C0024299 {source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735", source="NCIT:C3208"}
is_a: MONDO:0005157 {source="EFO:0000574", source="NCIT:C3208"} ! lymphoid neoplasm
is_a: MONDO:0015757 {source="Orphanet:223735"} ! lymphoid hemopathy
property_value: closeMatch http://identifiers.org/snomedct/115244002
property_value: closeMatch http://identifiers.org/snomedct/134218000
property_value: closeMatch http://identifiers.org/snomedct/188676008
property_value: closeMatch http://identifiers.org/snomedct/188694002
property_value: closeMatch http://identifiers.org/snomedct/188695001
property_value: closeMatch http://identifiers.org/snomedct/188704004
property_value: closeMatch http://identifiers.org/snomedct/189959002
property_value: closeMatch http://identifiers.org/snomedct/189965002
property_value: closeMatch http://identifiers.org/snomedct/21964009
property_value: closeMatch http://identifiers.org/snomedct/269627002
property_value: closeMatch http://identifiers.org/snomedct/414628006
property_value: exactMatch DOID:0060058
property_value: exactMatch http://identifiers.org/meddra/10025310
property_value: exactMatch http://identifiers.org/mesh/D008223
property_value: exactMatch http://identifiers.org/snomedct/118600007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024299
property_value: exactMatch NCIT:C3208
property_value: exactMatch Orphanet:223735

[Term]
id: MONDO:0005063
name: medullary breast carcinoma
def: "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." [NCIT:C9119]
synonym: "breast medullary carcinoma" RELATED [DOID:5605]
synonym: "infiltrating medullary carcinoma of breast" EXACT [NCIT:C9119]
synonym: "infiltrating medullary carcinoma of the breast" EXACT [NCIT:C9119]
synonym: "invasive medullary breast carcinoma" EXACT [NCIT:C9119]
synonym: "invasive medullary carcinoma of breast" EXACT [NCIT:C9119]
synonym: "invasive medullary carcinoma of the breast" EXACT [NCIT:C9119]
synonym: "medullary breast cancer" EXACT [NCIT:C9119]
synonym: "medullary breast carcinoma" EXACT [NCIT:C9119]
synonym: "medullary breast carcinoma with lymphoid Stroma" EXACT [DOID:5605, NCIT:C9119]
synonym: "medullary carcinoma of breast" EXACT [DOID:5605, NCIT:C9119]
synonym: "medullary carcinoma of the breast" EXACT [NCIT:C9119]
xref: DOID:5605 {source="EFO:0000580", source="MONDO:equivalentTo"}
xref: EFO:0000580 {source="MONDO:equivalentTo"}
xref: ICDO:8512/3 {source="NCIT:C9119"}
xref: NCIT:C9119 {source="EFO:0000580", source="MONDO:equivalentTo", source="DOID:5605", source="exact-label-match"}
xref: UMLS:C0860580 {source="MONDO:equivalentTo", source="DOID:5605", source="NCIT:C9119"}
is_a: MONDO:0004953 ! invasive ductal breast carcinoma
property_value: exactMatch DOID:5605
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860580
property_value: exactMatch NCIT:C9119

[Term]
id: MONDO:0005064
name: obsolete infectious meningitis
is_obsolete: true
replaced_by: MONDO:0004796

[Term]
id: MONDO:0005065
name: mesothelioma
def: "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." [NCIT:C3234]
synonym: "mesothelioma" EXACT [NCIT:C3234]
xref: EFO:0000588 {source="MONDO:equivalentTo"}
xref: ICD10:C45 {source="MONDO:equivalentTo"}
xref: MESH:D008654 {source="MONDO:equivalentTo", source="EFO:0000588", source="MONDO:ontobio"}
xref: NCIT:C3234 {source="MONDO:equivalentTo", source="EFO:0000588", source="exact-label-match"}
xref: UMLS:C0025500 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="NCIT:C3234"}
is_a: MONDO:0006856 {source="EFO:0000588", source="MESH:D008654", source="NCIT:C3234"} ! mesothelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/62064005
property_value: exactMatch http://identifiers.org/mesh/D008654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025500
property_value: exactMatch NCIT:C3234

[Term]
id: MONDO:0005066
name: metabolic disease
def: "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." [NCIT:C3235]
synonym: "disease of metabolism" RELATED [DOID:0014667]
synonym: "disorder of metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "metabolic disease" EXACT [DOID:0014667, NCIT:C3235]
synonym: "metabolic disorder" EXACT [NCIT:C3235]
synonym: "metabolic process disease" EXACT [MONDO:design_pattern]
xref: COHD:436670 {source="MONDO:equivalentTo"}
xref: DOID:0014667 {source="MONDO:equivalentTo", source="EFO:0000589"}
xref: EFO:0000589 {source="MONDO:equivalentTo"}
xref: ICD10:E70.E90 {source="MONDO:equivalentTo"}
xref: ICD10:E88.9 {source="DOID:0014667"}
xref: ICD9:277.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:277.9 {source="MONDO:equivalentTo", source="EFO:0000589", source="i2s", source="DOID:0014667"}
xref: MESH:D008659 {source="MONDO:equivalentTo", source="EFO:0000589", source="MONDO:ontobio", source="DOID:0014667"}
xref: NCIT:C3235 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"}
xref: SCTID:75934005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/8.50", source="EFO:0000589", source="DOID:0014667"}
xref: UMLS:C0025517 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3235", source="DOID:0014667"}
is_a: MONDO:0021195 {source="MONDO:cjm"} ! disease by cellular process disrupted
is_a: MONDO:0024297 {source="ICD10:E70.E90", source="MESH:D008659", source="MONDO:Entailed", source="MONDO:Redundant"} ! nutritional or metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/154733004
property_value: closeMatch http://identifiers.org/snomedct/190961002
property_value: closeMatch http://identifiers.org/snomedct/267456000
property_value: closeMatch http://identifiers.org/snomedct/30390004
property_value: exactMatch DOID:0014667
property_value: exactMatch http://identifiers.org/mesh/D008659
property_value: exactMatch http://identifiers.org/snomedct/75934005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025517
property_value: exactMatch NCIT:C3235

[Term]
id: MONDO:0005067
name: monophasic synovial sarcoma
def: "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." [NCIT:C6534]
synonym: "monophasic sarcoma of synovium" EXACT [DOID:5495, NCIT:C6534]
synonym: "monophasic sarcoma of the synovium" EXACT [NCIT:C6534]
synonym: "monophasic synovial sarcoma" EXACT [NCIT:C6534]
xref: DOID:5495 {source="EFO:0000595", source="MONDO:equivalentTo"}
xref: EFO:0000595 {source="MONDO:equivalentTo"}
xref: NCIT:C6534 {source="EFO:0000595", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5495"}
xref: UMLS:C1334801 {source="MONDO:equivalentTo", source="NCIT:C6534", source="DOID:5495"}
is_a: MONDO:0010434 {source="DOID:5495", source="EFO:0000595", source="NCIT:C6534"} ! synovial sarcoma (disease)
property_value: exactMatch DOID:5495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334801
property_value: exactMatch NCIT:C6534

[Term]
id: MONDO:0005068
name: myocardial infarction (disease)
def: "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." [NCIT:C27996]
synonym: "heart attack" EXACT [CSP2005:1393-3417, DOID:5844]
synonym: "infarction (MI), myocardial" EXACT [NCIT:C27996]
synonym: "MI" EXACT [NCIT:C27996]
synonym: "MI, myocardial infarction" EXACT [NCIT:C27996]
synonym: "myocardial infarct" EXACT [DOID:5844]
synonym: "myocardial infarction" EXACT [MONDO:ambiguous]
synonym: "myocardial infarction, (MI)" EXACT [NCIT:C27996]
xref: DOID:5844 {source="MONDO:equivalentTo", source="EFO:0000612"}
xref: EFO:0000612 {source="MONDO:equivalentTo", source="DOID:5844"}
xref: HP:0001658 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I21 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo", source="DOID:5844"}
xref: ICD10:I22 {source="DOID:5844"}
xref: MESH:D009203 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612", source="MONDO:ontobio"}
xref: NCIT:C27996 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:22298006 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027051 {source="MONDO:equivalentTo", source="NCIT:C27996", source="DOID:5844"}
is_a: MONDO:0024643 {source="NCIT:C27996", source="linkedlifedata"} ! myocardial disorder
relationship: excluded_subClassOf MONDO:0005010 {source="DOID:5844"} ! coronary artery disease
property_value: closeMatch http://identifiers.org/snomedct/155304006
property_value: closeMatch http://identifiers.org/snomedct/194796000
property_value: closeMatch http://identifiers.org/snomedct/233824008
property_value: closeMatch http://identifiers.org/snomedct/266288001
property_value: closeMatch http://identifiers.org/snomedct/66514008
property_value: exactMatch DOID:5844
property_value: exactMatch http://identifiers.org/mesh/D009203
property_value: exactMatch http://identifiers.org/snomedct/22298006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027051
property_value: exactMatch NCIT:C27996

[Term]
id: MONDO:0005069
name: obsolete narcolepsy with cataplexy
is_obsolete: true
replaced_by: MONDO:0016158

[Term]
id: MONDO:0005070
name: neoplasm (disease)
def: "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." [NCIT:C3262]
synonym: "cell process disease" BROAD DUBIOUS [DOID:14566]
synonym: "disease of cellular proliferation" EXACT [MONDO:0002001]
synonym: "neoplasia" EXACT [NCIT:C3262]
synonym: "neoplasm" EXACT [DOID:14566, MONDO:ambiguous, NCIT:C3262]
synonym: "neoplastic disease" EXACT [NCIT:C3262]
synonym: "neoplastic growth" EXACT [NCIT:C3262]
synonym: "other neoplasm" NARROW [NCIT:C3262]
synonym: "tumor" EXACT [NCIT:C3262]
synonym: "tumor disease" EXACT []
xref: COHD:438112 {source="MONDO:equivalentTo"}
xref: DOID:14566 {source="MONDO:equivalentTo"}
xref: EFO:0000616 {source="MONDO:equivalentTo"}
xref: HP:0002664 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C00.D48 {source="MONDO:equivalentTo"}
xref: ICD9:140-239.99 {source="EFO:0000616"}
xref: ICD9:239.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:239.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009369 {source="MONDO:equivalentTo", source="EFO:0000616"}
xref: NCIT:C3262 {source="MONDO:equivalentTo", source="EFO:0000616"}
xref: ONCOTREE:OTHER {source="MONDO:superClassOf"}
xref: SCTID:55342001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/2.11"}
xref: UMLS:CN236628 {source="MONDO:equivalentTo"}
is_a: MONDO:0023370 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0005070"} ! neoplastic disease or syndrome
disjoint_from: MONDO:0006906 ! pigmented villonodular synovitis
disjoint_from: MONDO:0024291 ! vascular malformation
property_value: closeMatch http://identifiers.org/snomedct/108369006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205394
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375111
property_value: closeMatch NCIT:C17649
property_value: exactMatch DOID:14566
property_value: exactMatch http://identifiers.org/mesh/D009369
property_value: exactMatch http://identifiers.org/snomedct/55342001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236628
property_value: exactMatch NCIT:C3262

[Term]
id: MONDO:0005071
name: nervous system disorder
def: "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." [NCIT:C26835]
synonym: "disease of nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nervous system" EXACT []
synonym: "disorder of nervous system" EXACT [MONDO:patterns/location_top, NCIT:C26835]
synonym: "disorder of nervous system" RELATED [MONDO:patterns/location_top, NCIT:C26835]
synonym: "nervous system disease" EXACT [MONDO:patterns/location]
synonym: "nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nervous system disorder" EXACT [NCIT:C26835]
synonym: "neurologic disease" EXACT [DOID:863]
synonym: "neurologic disorder" EXACT [DOID:863, NCIT:C26835]
synonym: "neurological disease" EXACT [DOID:863]
synonym: "neurological disorder" EXACT [DOID:863]
xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"}
xref: EFO:0000618 {source="MONDO:equivalentTo"}
xref: ICD10:G00-G99 {source="DOID:863"}
xref: ICD10:G00.G99 {source="MONDO:equivalentTo"}
xref: ICD10:G98 {source="DOID:863"}
xref: ICD10:G98.8 {source="DOID:863"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:349.9 {source="DOID:863", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009422 {source="DOID:863", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26835 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"}
xref: SCTID:118940003 {source="DOID:863", source="MONDO:equivalentTo"}
xref: UMLS:C0027765 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"}
xref: Wikipedia:Nervous_system_disease {source="EFO:0000618"}
is_a: MONDO:0021199 {source="DOID:863", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/154981003
property_value: closeMatch http://identifiers.org/snomedct/155262005
property_value: closeMatch http://identifiers.org/snomedct/192641002
property_value: closeMatch http://identifiers.org/snomedct/267679005
property_value: closeMatch http://identifiers.org/snomedct/286946008
property_value: exactMatch DOID:863
property_value: exactMatch http://identifiers.org/mesh/D009422
property_value: exactMatch http://identifiers.org/snomedct/118940003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027765
property_value: exactMatch NCIT:C26835

[Term]
id: MONDO:0005072
name: neuroblastoma
def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." [NCIT:C3270]
comment: Alt def: Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. [Orphanet:635]. Note DOID has this as in the ANS, EFO in the SNS, we make this neutral
subset: gard_rare {source="GARD:0007185"}
subset: ordo_disease {source="Orphanet:635"}
synonym: "NB" RELATED [GARD:0007185]
synonym: "neural Crest tumor, malignant" EXACT [NCIT:C3270]
synonym: "neuroblastoma" EXACT [NCIT:C3270]
synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [DOID:769, NCIT:C3270]
synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270]
xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"}
xref: EFO:0000621 {source="DOID:769", source="MONDO:equivalentTo"}
xref: GARD:0007185 {source="MONDO:equivalentTo"}
xref: ICD10:C74.9 {source="Orphanet:635", source="ORDO:635/ntbt"}
xref: ICDO:9500/3 {source="NCIT:C3270"}
xref: MedDRA:10029260 {source="ORDO:635/e", source="Orphanet:635"}
xref: MESH:D009447 {source="ORDO:635/e", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="EFO:0000621", source="MONDO:ontobio"}
xref: NCIT:C3270 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"}
xref: NIFSTD:birnlex_12631 {source="EFO:0000621"}
xref: ONCOTREE:NBL {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="DOID:769", source="MONDO:equivalentTo"}
xref: SCTID:432328008 {source="DOID:769", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000621"}
xref: UMLS:C0027819 {source="ORDO:635/e", source="NCIT:C3270", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo"}
xref: UMLS:CN205405 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006316 {source="NCIT:C3270"} ! neuroblastic tumor
is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0002366 {source="DOID:769"} ! autonomic nervous system neoplasm
relationship: excluded_subClassOf MONDO:0016713 {source="Orphanet:635"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://identifiers.org/snomedct/189931003
property_value: closeMatch http://identifiers.org/snomedct/269507008
property_value: closeMatch http://identifiers.org/snomedct/87364003
property_value: exactMatch DOID:769
property_value: exactMatch http://identifiers.org/meddra/10029260
property_value: exactMatch http://identifiers.org/mesh/C536408
property_value: exactMatch http://identifiers.org/mesh/D009447
property_value: exactMatch http://identifiers.org/snomedct/432328008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931189
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205405
property_value: exactMatch NCIT:C3270
property_value: exactMatch Orphanet:635
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma xsd:anyURI {source="GARD:0007185"}

[Term]
id: MONDO:0005073
name: melanocytic nevus
def: "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." [NCIT:C7570]
synonym: "melanocytic Nevus" EXACT [NCIT:C7570]
synonym: "melanotic Nevus" EXACT [NCIT:C7570]
synonym: "mole" EXACT [NCIT:C7570]
synonym: "mole of skin" EXACT [NCIT:C7570]
synonym: "nevus" EXACT [NCIT:C7570]
xref: COHD:4271013 {source="MONDO:equivalentTo"}
xref: EFO:0000625 {source="MONDO:equivalentTo"}
xref: MESH:D009506 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000625"}
xref: NCIT:C7570 {source="MONDO:equivalentTo"}
xref: SCTID:400096001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.66/1.17"}
xref: Wikipedia:Nevus {source="EFO:0000625"}
is_a: MONDO:0021440 ! benign neoplasm of skin
is_a: MONDO:0021583 ! melanocytic skin neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027960
property_value: exactMatch http://identifiers.org/mesh/D009506
property_value: exactMatch http://identifiers.org/snomedct/400096001
property_value: exactMatch NCIT:C7570

[Term]
id: MONDO:0005074
name: papillary cystadenocarcinoma
def: "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C3777]
subset: gard_rare {source="GARD:0010162"}
synonym: "cystadenocarcinoma, papillary, malignant" EXACT [NCIT:C3777]
synonym: "papillary cystadenocarcinoma" EXACT [DOID:3110, NCIT:C3777]
synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3110]
synonym: "papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [DOID:3110]
xref: DOID:3110 {source="MONDO:equivalentTo", source="EFO:0000639"}
xref: EFO:0000639 {source="MONDO:equivalentTo"}
xref: GARD:0010162 {source="MONDO:equivalentTo"}
xref: ICDO:8450/3 {source="NCIT:C3777"}
xref: MESH:D018283 {source="DOID:3110", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000639"}
xref: NCIT:C3777 {source="DOID:3110", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0000639"}
xref: UMLS:C0206700 {source="DOID:3110", source="MONDO:equivalentTo", source="NCIT:C3777"}
is_a: MONDO:0002512 {source="MONDOLEX:0005074", source="NCIT:C3777"} ! papillary adenocarcinoma
is_a: MONDO:0005596 {source="DOID:3110", source="MESH:D018283", source="MONDOLEX:0005074", source="NCIT:C3777"} ! cystadenocarcinoma
is_a: MONDO:0006349 {source="NCIT:C3777"} ! papillary cystic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189687009
property_value: closeMatch http://identifiers.org/snomedct/2735009
property_value: exactMatch DOID:3110
property_value: exactMatch http://identifiers.org/mesh/D018283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206700
property_value: exactMatch NCIT:C3777
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma xsd:anyURI {source="GARD:0010162"}

[Term]
id: MONDO:0005075
name: thyroid gland papillary carcinoma
def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." [NCIT:C4035]
synonym: "papillary cancer of the thyroid" EXACT [NCIT:C4035]
synonym: "papillary cancer of the thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary cancer of thyroid" EXACT [NCIT:C4035]
synonym: "papillary cancer of thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of the thyroid" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of the thyroid gland" EXACT [DOID:3969, NCIT:C4035]
synonym: "papillary carcinoma of thyroid" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary thyroid cancer" EXACT [NCIT:C4035]
synonym: "papillary thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4035]
synonym: "papillary thyroid gland carcinoma" EXACT [NCIT:C4035]
synonym: "thyroid gland papillary cancer" EXACT [NCIT:C4035]
synonym: "thyroid gland papillary carcinoma" EXACT [NCIT:C4035]
synonym: "thyroid papillary carcinoma" EXACT [NCIT:C4035]
xref: DOID:3969 {source="MONDO:equivalentTo", source="EFO:0000641"}
xref: EFO:0000641 {source="MONDO:equivalentTo"}
xref: GARD:0012027 {source="shared-xref", source="MONDO:equivalentTo"}
xref: HP:0002895 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C4035 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"}
xref: ONCOTREE:THPA {source="MONDO:equivalentTo"}
xref: SCTID:255029007 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969", source="MONDO:kboom-pr-0.89/0.75/0.41"}
xref: UMLS:C0238463 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4035", source="DOID:3969"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C4035"} ! papillary adenocarcinoma
is_a: MONDO:0015447 {source="EFO:0000641", source="NCIT:C4035", source="ONCOTREE:THPA"} ! differentiated thyroid carcinoma
is_a: MONDO:0024622 ! thyroid gland adenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/C536915
property_value: closeMatch http://identifiers.org/snomedct/4797003
property_value: exactMatch DOID:3969
property_value: exactMatch http://identifiers.org/snomedct/255029007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238463
property_value: exactMatch NCIT:C4035

[Term]
id: MONDO:0005076
name: periodontitis
alt_id: MONDO:0004915
def: "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
synonym: "chronic pericementitis" EXACT [DOID:824, MTHICD9_2006:523.4]
synonym: "inflammation of periodontium" EXACT []
synonym: "periodontium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "periodontosis" RELATED [DOID:9893]
xref: COHD:141608 {source="MONDO:equivalentTo"}
xref: DOID:824 {source="MONDO:equivalentTo", source="EFO:0000649"}
xref: DOID:9893 {source="MONDO:equivalentTo"}
xref: EFO:0000649 {source="DOID:824", source="MONDO:equivalentTo"}
xref: ICD10:K05.3 {source="DOID:824", source="MONDO:superClassOf"}
xref: ICD10:K05.4 {source="MONDO:equivalentTo", source="DOID:9893"}
xref: ICD9:523.5 {source="DOID:9893"}
xref: MESH:D010518 {source="DOID:824", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000649"}
xref: NCIT:C34918 {source="DOID:824", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0000649"}
xref: SCTID:41565005 {source="MONDO:kboom-pr-0.92/0.67/1.61", source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"}
xref: UMLS:C0031099 {source="DOID:824", source="NCIT:C34918", source="MONDO:equivalentTo"}
xref: UMLS:C0600298 {source="MONDO:equivalentTo", source="DOID:9893"}
is_a: MONDO:0002635 {source="DOID:824", source="MESH:D010518", source="MONDO:Redundant", source="NCIT:C34918", source="linkedlifedata"} ! periodontal disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
relationship: excluded_subClassOf MONDO:0006999 {source="DOID:9893"} ! tooth disease
property_value: closeMatch http://identifiers.org/snomedct/155648008
property_value: closeMatch http://identifiers.org/snomedct/266491004
property_value: exactMatch DOID:824
property_value: exactMatch DOID:9893
property_value: exactMatch http://identifiers.org/mesh/D010518
property_value: exactMatch http://identifiers.org/snomedct/41565005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600298
property_value: exactMatch NCIT:C34918

[Term]
id: MONDO:0005077
name: pertussis
def: "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." [NCIT:P378]
subset: gard_rare {source="GARD:0008692"}
subset: ordo_disease {source="Orphanet:1489"}
synonym: "Bordetella infection" BROAD [DOID:1116]
synonym: "Bordetella pertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella pertussis disease or disorder" EXACT []
synonym: "Bordetella pertussis infection" EXACT [GARD:0008692]
synonym: "Bordetella pertussis infectious disease" EXACT []
synonym: "infection due to Bordetella pertussis" RELATED []
synonym: "pertussis" EXACT [Orphanet:1489]
synonym: "WC - whooping cough" EXACT [DOID:1116]
synonym: "whooping cough" EXACT [CSP2005:0368-3326, DOID:1116]
xref: COHD:257778 {source="MONDO:equivalentTo"}
xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"}
xref: EFO:0000650 {source="MONDO:equivalentTo"}
xref: GARD:0008692 {source="MONDO:equivalentTo"}
xref: ICD10:A37.0 {source="ORDO:1489/btnt", source="Orphanet:1489"}
xref: ICD10:A37.1 {source="ORDO:1489/btnt", source="Orphanet:1489", source="MONDO:directSiblingOf"}
xref: ICD10:A37.8 {source="ORDO:1489/btnt", source="Orphanet:1489"}
xref: ICD10:A37.9 {source="ORDO:1489/btnt", source="Orphanet:1489"}
xref: ICD9:033 {source="EFO:0000650"}
xref: ICD9:033.0 {source="linkedlifedata"}
xref: ICD9:033.9 {source="linkedlifedata"}
xref: KEGG:05133 {source="MONDO:equivalentTo", source="DOID:1116"}
xref: MedDRA:10034738 {source="ORDO:1489/e", source="Orphanet:1489"}
xref: MedDRA:10047974 {source="ORDO:1489/e", source="Orphanet:1489"}
xref: MESH:D014917 {source="ORDO:1489/e", source="EFO:0000650", source="MONDO:equivalentTo", source="Orphanet:1489", source="DOID:1116"}
xref: NCIT:C85231 {source="EFO:0000650", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:1489 {source="MONDO:equivalentTo"}
xref: SCTID:27836007 {source="EFO:0000650", source="MONDO:equivalentTo"}
xref: UMLS:C0043167 {source="ORDO:1489/e", source="MONDO:equivalentTo", source="Orphanet:1489", source="NCIT:C85231"}
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0037872 {source="MONDO:Redundant", source="linkedlifedata"} ! bordetellosis
relationship: excluded_subClassOf MONDO:0000315 {source="DOID:1116"} ! commensal bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043168
property_value: exactMatch DOID:1116
property_value: exactMatch http://identifiers.org/meddra/10034738
property_value: exactMatch http://identifiers.org/meddra/10047974
property_value: exactMatch http://identifiers.org/mesh/D014917
property_value: exactMatch http://identifiers.org/snomedct/27836007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043167
property_value: exactMatch NCIT:C85231
property_value: exactMatch Orphanet:1489
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8692/whooping-cough xsd:anyURI {source="GARD:0008692"}

[Term]
id: MONDO:0005078
name: phyllodes tumor
def: "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." [NCIT:C2977]
comment: Note that this class covers both breast and prostate phyllodes tumors
synonym: "CSP" EXACT [NCIT:C2977]
synonym: "cystosarcoma phyllodes" EXACT [NCIT:C2977]
synonym: "phyllodes neoplasm" EXACT [NCIT:C2977]
synonym: "phyllodes tumor" EXACT [NCIT:C2977]
xref: EFO:0000653 {source="MONDO:equivalentTo"}
xref: MESH:D003557 {source="EFO:0000653", source="MONDO:equivalentTo"}
xref: NCIT:C2977 {source="EFO:0000653", source="MONDO:equivalentTo"}
is_a: MONDO:0021045 {source="NCIT:C2977"} ! fibroepithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189826001
property_value: closeMatch http://identifiers.org/snomedct/71232009
property_value: exactMatch http://identifiers.org/mesh/D003557
property_value: exactMatch NCIT:C2977

[Term]
id: MONDO:0005079
name: polyp
def: "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." [NCIT:C3340]
synonym: "polyp" EXACT [NCIT:C3340]
xref: EFO:0000662 {source="MONDO:equivalentTo"}
xref: ICD10:N84 {source="MONDO:equivalentTo"}
xref: MESH:D011127 {source="EFO:0000662", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3340 {source="EFO:0000662", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:441456002 {source="EFO:0000662", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0045024 {source="https://github.com/monarch-initiative/mondo/issues/1014"} ! cell proliferation disorder
relationship: excluded_subClassOf MONDO:0005070 {source="EFO:0000662"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/41329004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032584
property_value: exactMatch http://identifiers.org/mesh/D011127
property_value: exactMatch http://identifiers.org/snomedct/441456002
property_value: exactMatch NCIT:C3340

[Term]
id: MONDO:0005080
name: portal hypertension
def: "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." [NCIT:C3119]
xref: COHD:192680 {source="MONDO:equivalentTo"}
xref: DOID:10762 {source="MONDO:equivalentTo", source="EFO:0000666"}
xref: EFO:0000666 {source="MONDO:equivalentTo"}
xref: GARD:0008229 {source="MONDO:equivalentTo"}
xref: ICD10:K76.6 {source="MONDO:equivalentTo", source="DOID:10762"}
xref: ICD9:572.3 {source="MONDO:equivalentTo", source="EFO:0000666", source="i2s", source="DOID:10762"}
xref: MESH:D006975 {source="MONDO:equivalentTo", source="EFO:0000666", source="MONDO:ontobio", source="DOID:10762"}
xref: NCIT:C3119 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000666", source="exact-label-match", source="DOID:10762"}
xref: SCTID:34742003 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0020541 {source="MONDO:equivalentTo", source="DOID:10762"}
is_a: MONDO:0002405 {source="DOID:10762"} ! hepatic vascular disease
property_value: closeMatch http://identifiers.org/snomedct/155821005
property_value: exactMatch DOID:10762
property_value: exactMatch http://identifiers.org/mesh/D006975
property_value: exactMatch http://identifiers.org/snomedct/34742003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020541
property_value: exactMatch NCIT:C3119

[Term]
id: MONDO:0005081
name: preeclampsia
def: "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." [Orphanet:275555]
subset: ordo_disease {source="Orphanet:275555"}
synonym: "gestational hypertension" EXACT [DOID:10591, MTHICD9_2006:642.3]
synonym: "hypertension induced by pregnancy" EXACT [DOID:10591]
synonym: "pre-eclampsia" EXACT [DOID:10591]
synonym: "pre-eclamptic toxaemia" EXACT [DOID:10591]
synonym: "preeclampsia" EXACT [CSP2005:4001-0110, DOID:10591]
synonym: "preeclampsia/eclampsia" EXACT [DOID:10591]
synonym: "pregnancy associated hypertension" EXACT [DOID:10591, NCIT:C4371]
synonym: "pregnancy toxemia" EXACT [CSP2005:2404-7447, DOID:10591]
synonym: "proteinuric hypertension of pregnancy" EXACT [DOID:10591]
synonym: "toxaemia of pregnancy" EXACT [DOID:10591]
xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"}
xref: EFO:0000668 {source="MONDO:equivalentTo"}
xref: ICD10:O14 {source="DOID:10591"}
xref: ICD10:O14.0 {source="ORDO:275555/btnt", source="Orphanet:275555"}
xref: ICD10:O14.1 {source="ORDO:275555/btnt", source="Orphanet:275555"}
xref: ICD10:O14.2 {source="ORDO:275555/btnt", source="Orphanet:275555"}
xref: ICD10:O14.9 {source="ORDO:275555/btnt", source="Orphanet:275555", source="DOID:10591"}
xref: ICD10:O14.90 {source="DOID:10591"}
xref: ICD9:642.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:642.41 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.42 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.43 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:642.44 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036485 {source="Orphanet:275555", source="ORDO:275555/e"}
xref: MESH:D011225 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"}
xref: NCIT:C85021 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668", source="MONDO:kboom-pr-0.86/0.71/0.09"}
xref: OMIMPS:189800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="MONDO:equivalentTo", source="DOID:10591"}
xref: SCTID:398254007 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"}
is_a: MONDO:0045048 {source="NCIT:C85021"} ! toxemia of pregnancy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D014115
property_value: closeMatch http://identifiers.org/snomedct/15394000
property_value: closeMatch http://identifiers.org/snomedct/156106005
property_value: closeMatch http://identifiers.org/snomedct/156109003
property_value: closeMatch http://identifiers.org/snomedct/198972006
property_value: closeMatch http://identifiers.org/snomedct/198979002
property_value: closeMatch http://identifiers.org/snomedct/199011002
property_value: closeMatch http://identifiers.org/snomedct/237280005
property_value: closeMatch http://identifiers.org/snomedct/267306006
property_value: closeMatch http://identifiers.org/snomedct/288201007
property_value: closeMatch http://identifiers.org/snomedct/46764007
property_value: closeMatch http://identifiers.org/snomedct/6758009
property_value: exactMatch DOID:10591
property_value: exactMatch http://identifiers.org/meddra/10036485
property_value: exactMatch http://identifiers.org/mesh/D011225
property_value: exactMatch http://identifiers.org/snomedct/398254007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032914
property_value: exactMatch NCIT:C85021
property_value: exactMatch Orphanet:275555

[Term]
id: MONDO:0005082
name: prostate adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the prostate gland" [MONDO:DesignPattern]
synonym: "adenocarcinoma of prostate" EXACT [NCIT:C2919]
synonym: "adenocarcinoma of the prostate" EXACT [NCIT:C2919]
synonym: "prad" RELATED [ONCOTREE:PRAD]
synonym: "prostate adenocarcinoma" EXACT [NCIT:C2919]
synonym: "prostate gland adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2526 {source="EFO:0000673", source="MONDO:equivalentTo"}
xref: EFO:0000673 {source="MONDO:equivalentTo"}
xref: NCIT:C2919 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526", source="exact-label-match"}
xref: ONCOTREE:PRAD {source="MONDO:equivalentTo"}
xref: SCTID:399490008 {source="EFO:0000673", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09", source="DOID:2526"}
xref: UMLS:C0007112 {source="MONDO:equivalentTo", source="NCIT:C2919", source="DOID:2526"}
is_a: MONDO:0004970 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="MONDOLEX:0005082", source="NCIT:C2919", source="linkedlifedata/inferred"} ! adenocarcinoma
is_a: MONDO:0005159 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="MONDOLEX:0005082", source="NCIT:C2919/inferred"} ! prostate carcinoma
property_value: exactMatch DOID:2526
property_value: exactMatch http://identifiers.org/snomedct/399490008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007112
property_value: exactMatch NCIT:C2919

[Term]
id: MONDO:0005083
name: psoriasis
def: "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." [NCIT:P378]
xref: COHD:140168 {source="MONDO:equivalentTo"}
xref: DOID:8893 {source="MONDO:equivalentTo", source="EFO:0000676"}
xref: EFO:0000676 {source="MONDO:equivalentTo", source="DOID:8893"}
xref: GARD:0010262 {source="MONDO:equivalentTo"}
xref: ICD10:L40 {source="MONDO:equivalentTo", source="DOID:8893"}
xref: ICD10:L40.9 {source="DOID:8893"}
xref: ICD9:696 {source="EFO:0000676"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s", source="EFO:0000676"}
xref: ICD9:696.5 {source="EFO:0000676"}
xref: ICD9:696.8 {source="MONDO:relatedTo", source="i2s", source="EFO:0000676"}
xref: MESH:D011565 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"}
xref: NCIT:C3346 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0000676", source="DOID:8893"}
xref: OMIMPS:177900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:9014002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000676", source="DOID:8893"}
xref: UMLS:C0033860 {source="MONDO:equivalentTo", source="NCIT:C3346", source="DOID:8893"}
is_a: MONDO:0005046 {source="EFO:0000676"} ! immune system disease
is_a: MONDO:0006501 {source="EFO:0000676"} ! inflammatory skin disease
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0044999 ! scalp disease
disjoint_from: MONDO:0006601 {source="https://www.healthline.com/health/psoriasis/psoriasis-vs-pityriasis-rosea"} ! pityriasis rosea
property_value: closeMatch http://identifiers.org/snomedct/156369008
property_value: closeMatch http://identifiers.org/snomedct/156371008
property_value: closeMatch http://identifiers.org/snomedct/200961000
property_value: closeMatch http://identifiers.org/snomedct/200978009
property_value: closeMatch http://identifiers.org/snomedct/267851002
property_value: exactMatch DOID:8893
property_value: exactMatch http://identifiers.org/mesh/D011565
property_value: exactMatch http://identifiers.org/snomedct/9014002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033860
property_value: exactMatch NCIT:C3346

[Term]
id: MONDO:0005084
name: mental disorder
def: "A disease that has its basis in the disruption of mental process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of mental process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of mental process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "mental or behavioural disorder" EXACT [DOID:2468]
synonym: "mental process disease" EXACT [MONDO:design_pattern]
xref: EFO:0000677 {source="DOID:2468", source="MONDO:equivalentTo"}
xref: ICD10:F00.F99 {source="MONDO:equivalentTo"}
xref: ICD9:290-299.99 {source="EFO:0000677"}
xref: ICD9:298.8 {source="DOID:2468"}
xref: ICD9:V11.9 {source="MONDO:relatedTo", source="i2s"}
xref: NIFSTD:birnlex_12669 {source="EFO:0000677"}
xref: SCTID:74732009 {source="MONDO:equivalentTo", source="EFO:0000677"}
xref: UMLS:CN240636 {source="MONDO:equivalentTo"}
is_a: MONDO:0002025 ! psychiatric disorder
is_a: MONDO:0005560 ! brain disease
disjoint_from: MONDO:0005404 {source="MONDO:cjm"} ! myalgic encephalomeyelitis/chronic fatigue syndrome
property_value: closeMatch http://identifiers.org/mesh/D011618
property_value: closeMatch http://identifiers.org/snomedct/5464005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029516
property_value: exactMatch http://identifiers.org/snomedct/74732009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240636

[Term]
id: MONDO:0005085
name: pterygium
def: "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." [NCIT:C133744]
synonym: "pterygium of conjunctiva and cornea" EXACT [NCIT:C133744]
synonym: "surfer's eye" EXACT [DOID:0002116]
xref: COHD:375552 {source="MONDO:equivalentTo"}
xref: DOID:0002116 {source="MONDO:equivalentTo", source="EFO:0000678"}
xref: EFO:0000678 {source="MONDO:equivalentTo"}
xref: ICD10:H11.0 {source="MONDO:equivalentTo", source="DOID:0002116"}
xref: ICD10:H11.00 {source="DOID:0002116"}
xref: ICD10:H11.009 {source="DOID:0002116"}
xref: ICD9:372.4 {source="EFO:0000678", source="DOID:0002116"}
xref: ICD9:372.40 {source="MONDO:equivalentTo", source="i2s", source="DOID:0002116"}
xref: MESH:D011625 {source="MONDO:equivalentTo", source="EFO:0000678", source="MONDO:ontobio", source="DOID:0002116"}
xref: NCIT:C133744 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.19"}
xref: SCTID:77489003 {source="MONDO:kboom-pr-0.93/0.67/1.84", source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"}
xref: UMLS:C0033999 {source="MONDO:equivalentTo", source="DOID:0002116", source="NCIT:C133744"}
is_a: MONDO:0006105 {source="MONDO:Entailed", source="NCIT:C133744"} ! benign conjunctival neoplasm
is_a: MONDO:0021452 ! benign neoplasm of cornea
property_value: closeMatch http://identifiers.org/snomedct/155165000
property_value: closeMatch http://identifiers.org/snomedct/193879003
property_value: closeMatch http://identifiers.org/snomedct/193884009
property_value: exactMatch DOID:0002116
property_value: exactMatch http://identifiers.org/mesh/D011625
property_value: exactMatch http://identifiers.org/snomedct/77489003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033999
property_value: exactMatch NCIT:C133744

[Term]
id: MONDO:0005086
name: renal cell carcinoma (disease)
def: "A carcinoma that arises from glandular epithelial cells of the kidney" [MONDO:DesignPattern]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:217071"}
synonym: "adenocarcinoma of kidney" EXACT EXCLUDE [DOID:4450]
synonym: "hypernephroma" EXACT [DOID:4450]
synonym: "kidney adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "RCC" EXACT [CSP2005:4003-0049, DOID:4450, Orphanet:217071]
synonym: "renal cell adenocarcinoma" RELATED [GARD:0013215]
synonym: "renal cell carcinoma" EXACT [MONDO:ambiguous]
xref: DOID:4450 {source="EFO:0000681", source="MONDO:equivalentTo"}
xref: EFO:0000681 {source="MONDO:equivalentTo", source="DOID:4450"}
xref: GARD:0013215 {source="MONDO:equivalentTo"}
xref: HP:0005584 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067946 {source="ORDO:217071/e", source="Orphanet:217071"}
xref: MESH:D002292 {source="ORDO:217071/e", source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="DOID:4450"}
xref: ONCOTREE:RCC {source="MONDO:equivalentTo"}
xref: Orphanet:217071 {source="MONDO:equivalentTo"}
xref: SCTID:702391001 {source="EFO:0000681", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.06", source="DOID:4450"}
is_a: MONDO:0004970 {source="DOID:4450", source="MESH:D002292", source="MONDO:Redundant", source="MONDOLEX:0005086", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0005206 {source="DOID:4450", source="EFO:0000681", source="MONDO:Redundant", source="MONDOLEX:0005086"} ! renal carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/41607009
property_value: exactMatch DOID:4450
property_value: exactMatch http://identifiers.org/meddra/10067946
property_value: exactMatch http://identifiers.org/mesh/D002292
property_value: exactMatch http://identifiers.org/snomedct/702391001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007134
property_value: exactMatch Orphanet:217071

[Term]
id: MONDO:0005087
name: respiratory system disease
def: "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." [NCIT:C26871]
synonym: "disease of respiratory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of respiratory system" EXACT []
synonym: "disorder of respiratory system" EXACT [MONDO:patterns/location_top, NCIT:C26871]
synonym: "disorder of respiratory system" RELATED [MONDO:patterns/location_top]
synonym: "respiratory disease" EXACT [DOID:1579]
synonym: "respiratory disorder" EXACT [NCIT:C26871]
synonym: "respiratory system disease" EXACT [MONDO:patterns/location]
synonym: "respiratory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "respiratory system disorder" EXACT [NCIT:C26871]
xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: EFO:0000684 {source="MONDO:equivalentTo"}
xref: ICD10:J96-J99 {source="DOID:1579"}
xref: ICD10:J98 {source="DOID:1579"}
xref: ICD9:460-519.99 {source="EFO:0000684"}
xref: ICD9:500-508.99 {source="EFO:0000684"}
xref: ICD9:503 {source="EFO:0000684"}
xref: ICD9:508 {source="EFO:0000684"}
xref: ICD9:508.1 {source="EFO:0000684"}
xref: ICD9:508.8 {source="EFO:0000684"}
xref: ICD9:508.9 {source="EFO:0000684"}
xref: ICD9:510-519.99 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:516 {source="EFO:0000684"}
xref: ICD9:516.8 {source="EFO:0000684"}
xref: ICD9:516.9 {source="EFO:0000684"}
xref: ICD9:517 {source="EFO:0000684"}
xref: ICD9:517.8 {source="EFO:0000684"}
xref: ICD9:519 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:519.1 {source="EFO:0000684"}
xref: ICD9:519.3 {source="EFO:0000684"}
xref: ICD9:519.8 {source="MONDO:relatedTo", source="EFO:0000684", source="i2s"}
xref: ICD9:519.9 {source="EFO:0000684", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:V12.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:V47.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012140 {source="MONDO:equivalentTo"}
xref: NCIT:C26871 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: SCTID:50043002 {source="EFO:0000684", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.68"}
is_a: MONDO:0021199 {source="DOID:1579", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/155603009
property_value: closeMatch http://identifiers.org/snomedct/196057004
property_value: closeMatch http://identifiers.org/snomedct/196184000
property_value: closeMatch http://identifiers.org/snomedct/196255004
property_value: closeMatch http://identifiers.org/snomedct/266373008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029582
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035204
property_value: exactMatch DOID:1579
property_value: exactMatch http://identifiers.org/mesh/D012140
property_value: exactMatch http://identifiers.org/snomedct/50043002
property_value: exactMatch NCIT:C26871

[Term]
id: MONDO:0005088
name: obsolete rheumatoid arthritis
is_obsolete: true
replaced_by: MONDO:0008383

[Term]
id: MONDO:0005089
name: sarcoma
def: "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." [NCIT:C9118]
synonym: "connective and soft tissue neoplasm" EXACT EXCLUDE [DOID:1115]
synonym: "mesenchymal tumor, malignant" EXACT [NCIT:C9118]
synonym: "sarcoma" EXACT [NCIT:C9118]
synonym: "sarcoma of soft tissue and bone" EXACT [NCIT:C9118]
synonym: "sarcoma of the soft tissue and bone" EXACT [NCIT:C9118]
synonym: "sarcoma, malignant" EXACT [NCIT:C9118]
synonym: "tumor of soft tissue and skeleton" EXACT [DOID:1115, NCIT:C3810]
xref: DOID:1115 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: EFO:0000691 {source="MONDO:equivalentTo"}
xref: GARD:0012018 {source="MONDO:equivalentTo"}
xref: ICD10:C49 {source="DOID:1115"}
xref: ICD9:171 {source="EFO:0000691", source="DOID:1115"}
xref: ICD9:171.0 {source="EFO:0000691"}
xref: ICD9:171.2 {source="EFO:0000691"}
xref: ICD9:171.3 {source="EFO:0000691"}
xref: ICD9:171.4 {source="EFO:0000691"}
xref: ICD9:171.5 {source="EFO:0000691"}
xref: ICD9:171.6 {source="EFO:0000691"}
xref: ICD9:171.7 {source="EFO:0000691"}
xref: ICD9:171.8 {source="EFO:0000691"}
xref: ICD9:171.9 {source="EFO:0000691", source="MONDO:relatedTo", source="DOID:1115", source="i2s"}
xref: ICDO:8800/3 {source="NCIT:C9118"}
xref: MESH:D012509 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: NCIT:C9118 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: SCTID:424413001 {source="EFO:0000691", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.67"}
is_a: MONDO:0004992 {source="DOID:1115", source="DOID:1115/inferred", source="EFO:0000691", source="linkedlifedata"} ! cancer
property_value: closeMatch http://identifiers.org/snomedct/187985009
property_value: closeMatch http://identifiers.org/snomedct/2424003
property_value: closeMatch http://identifiers.org/snomedct/93765001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153519
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1261473
property_value: exactMatch DOID:1115
property_value: exactMatch http://identifiers.org/mesh/D012509
property_value: exactMatch http://identifiers.org/snomedct/424413001
property_value: exactMatch NCIT:C9118

[Term]
id: MONDO:0005090
name: schizophrenia (disease)
def: "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." [NCIT:P378]
synonym: "schizoaffective disorder" RELATED [OMIM:181500]
synonym: "schizophrenia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:181500]
synonym: "schizophrenia with or without an affective disorder" RELATED [OMIM:181500]
synonym: "schizophrenia-1" EXACT [DOID:5419]
synonym: "schizophrenia; SCZD" RELATED [OMIM:181500]
synonym: "SCZD" RELATED [MONDO:Lexical, OMIM:181500]
xref: DOID:5419 {source="EFO:0000692", source="MONDO:equivalentTo"}
xref: EFO:0000692 {source="MONDO:equivalentTo", source="DOID:5419"}
xref: HP:0100753 {source="MONDO:otherHierarchy", source="DOID:5419", source="ontobio"}
xref: ICD9:295 {source="EFO:0000692"}
xref: ICD9:295.8 {source="EFO:0000692", source="DOID:5419"}
xref: ICD9:295.80 {source="MONDO:relatedTo", source="i2s", source="DOID:5419"}
xref: ICD9:295.85 {source="EFO:0000692"}
xref: ICD9:295.9 {source="EFO:0000692"}
xref: ICD9:295.90 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3362 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="EFO:0000692", source="MONDO:equivalentTo"}
xref: NIFSTD:birnlex_2104 {source="EFO:0000692"}
xref: OMIM:181500 {source="EFO:0000692", source="MONDO:equivalentTo", source="DOID:5419"}
xref: SCTID:58214004 {source="EFO:0000692", source="MONDO:equivalentTo"}
is_a: MONDO:0005485 {source="DOID:5419", source="MONDO:cjm", source="linkedlifedata"} ! psychotic disorder
property_value: closeMatch http://identifiers.org/mesh/D012559
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029838
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036337
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036341
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220702
property_value: exactMatch DOID:5419
property_value: exactMatch http://identifiers.org/omim/181500
property_value: exactMatch http://identifiers.org/snomedct/58214004
property_value: exactMatch NCIT:C3362

[Term]
id: MONDO:0005091
name: severe acute respiratory syndrome
alt_id: MONDO:0015370
def: "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." [NCIT:P378]
subset: ordo_disease {source="Orphanet:140896"}
synonym: "acute respiratory coronavirus infection" EXACT []
synonym: "SARS" EXACT [CSP2005:5004-0074, DOID:2945]
synonym: "SARS coronavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "SARS coronavirus disease or disorder" EXACT []
synonym: "SARS coronavirus infectious disease" EXACT []
synonym: "SARS-CoV infection" EXACT [DOID:2945]
xref: DOID:2945 {source="EFO:0000694", source="MONDO:equivalentTo"}
xref: EFO:0000694 {source="MONDO:equivalentTo"}
xref: GARD:0009237 {source="MONDO:equivalentTo"}
xref: ICD10:J12.81 {source="DOID:2945"}
xref: ICD10:U04.9 {source="ORDO:140896/e", source="Orphanet:140896"}
xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"}
xref: MedDRA:10061982 {source="ORDO:140896/e", source="Orphanet:140896"}
xref: MESH:D045169 {source="MONDO:relatedTo", source="EFO:0000694", source="MONDO:equivalentTo", source="ORDO:140896/e", source="DOID:2945", source="MONDO:ontobio", source="Orphanet:140896"}
xref: NCIT:C85064 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945", source="MONDO:kboom-pr-1.00/0.92/28.85"}
xref: Orphanet:140896 {source="MONDO:equivalentTo"}
xref: SCTID:398447004 {source="EFO:0000694", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.29", source="DOID:2945"}
xref: UMLS:C1175175 {source="MEDGEN:kboom-pr98-c99", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="NCIT:C85064", source="ORDO:140896/e", source="DOID:2945", source="Orphanet:140896"}
is_a: MONDO:0005087 {source="MESH:D045169/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease
is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch DOID:2945
property_value: exactMatch http://identifiers.org/meddra/10061982
property_value: exactMatch http://identifiers.org/mesh/D045169
property_value: exactMatch http://identifiers.org/snomedct/398447004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1175175
property_value: exactMatch NCIT:C85064
property_value: exactMatch Orphanet:140896

[Term]
id: MONDO:0005092
name: signet ring cell carcinoma
def: "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." [NCIT:C3774]
synonym: "signet ring carcinoma" EXACT [DOID:3493]
synonym: "signet ring carcinoma NOS (morphologic abnormality)" EXACT [DOID:3493]
synonym: "signet ring cell adenocarcinoma" EXACT [DOID:3493, NCIT:C3774]
synonym: "signet ring cell carcinoma" EXACT [DOID:3493, NCIT:C3774]
synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [DOID:3493]
xref: DOID:3493 {source="MONDO:equivalentTo", source="EFO:0000698"}
xref: EFO:0000698 {source="MONDO:equivalentTo"}
xref: ICDO:8490/3 {source="NCIT:C3774"}
xref: MESH:D018279 {source="MONDO:equivalentTo", source="EFO:0000698", source="MONDO:ontobio", source="DOID:3493"}
xref: NCIT:C3774 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"}
xref: UMLS:C0206696 {source="MONDO:equivalentTo", source="NCIT:C3774", source="DOID:3493"}
is_a: MONDO:0004970 {source="DOID:3493", source="MESH:D018279", source="MONDOLEX:0005092", source="NCIT:C3774"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/189701002
property_value: closeMatch http://identifiers.org/snomedct/189702009
property_value: closeMatch http://identifiers.org/snomedct/87737001
property_value: exactMatch DOID:3493
property_value: exactMatch http://identifiers.org/mesh/D018279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206696
property_value: exactMatch NCIT:C3774

[Term]
id: MONDO:0005093
name: skin disease
def: "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." [NCIT:C3371]
synonym: "cutaneous disorder" EXACT [NCIT:C3371]
synonym: "dermatosis" NARROW [https://medical-dictionary.thefreedictionary.com/dermatosis]
synonym: "disease of zone of skin" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of zone of skin" EXACT []
synonym: "disorder of skin" EXACT [NCIT:C3371]
synonym: "disorder of zone of skin" EXACT [MONDO:patterns/location_top]
synonym: "disorder of zone of skin" RELATED [MONDO:patterns/location_top]
synonym: "genodermatosis" NARROW [DOID:37]
synonym: "skin and subcutaneous tissue disease" EXACT [DOID:37]
synonym: "skin diseases and manifestations" EXACT [NCIT:C3371]
synonym: "skin disorder" EXACT [NCIT:C3371]
synonym: "zone of skin disease" EXACT [MONDO:patterns/location]
synonym: "zone of skin disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:37 {source="MONDO:equivalentTo", source="EFO:0000701"}
xref: EFO:0000701 {source="MONDO:equivalentTo"}
xref: ICD9:702 {source="DOID:37"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012871 {source="DOID:37", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3371 {source="DOID:37", source="MONDO:equivalentTo", source="EFO:0000701"}
xref: SCTID:95320005 {source="DOID:37", source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:37", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! integumentary system disease
property_value: closeMatch http://identifiers.org/snomedct/156292006
property_value: closeMatch http://identifiers.org/snomedct/156396006
property_value: closeMatch http://identifiers.org/snomedct/156400006
property_value: closeMatch http://identifiers.org/snomedct/156445005
property_value: closeMatch http://identifiers.org/snomedct/199879009
property_value: closeMatch http://identifiers.org/snomedct/200580005
property_value: closeMatch http://identifiers.org/snomedct/201095006
property_value: closeMatch http://identifiers.org/snomedct/201107006
property_value: closeMatch http://identifiers.org/snomedct/267806002
property_value: closeMatch http://identifiers.org/snomedct/267859000
property_value: closeMatch http://identifiers.org/snomedct/267860005
property_value: closeMatch http://identifiers.org/snomedct/267873009
property_value: closeMatch http://identifiers.org/snomedct/5613003
property_value: closeMatch http://identifiers.org/snomedct/80659006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029574
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037274
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037277
property_value: closeMatch NCIT:C27554
property_value: exactMatch DOID:37
property_value: exactMatch http://identifiers.org/mesh/D012871
property_value: exactMatch http://identifiers.org/snomedct/95320005
property_value: exactMatch NCIT:C3371

[Term]
id: MONDO:0005094
name: hemangiopericytoma
def: "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." [NCIT:C3087]
synonym: "haemangiopericytic meningioma" EXACT [DOID:264]
synonym: "haemangiopericytic meningioma [obs]" EXACT [DOID:264]
synonym: "hemangiopericytoma" EXACT [MONDO:0021188, NCIT:C3087]
synonym: "hemangiopericytoma, malignant" EXACT EXCLUDE [DOID:264]
synonym: "hemangiopericytoma, malignant (morphologic abnormality)" NARROW [DOID:264]
synonym: "malignant hemangiopericytoma" NARROW [DOID:264]
xref: DOID:264 {source="MONDO:equivalentTo", source="EFO:0000705"}
xref: ICDO:9150/1 {source="NCIT:C3087"}
xref: MESH:D006393 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
xref: NCIT:C3087 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
xref: SCTID:134335004 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
is_a: MONDO:0002789 {source="NCIT:C3087"} ! hemangiopericytic tumor
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:264"} ! connective tissue cancer
property_value: closeMatch http://identifiers.org/snomedct/36060005
property_value: exactMatch DOID:264
property_value: exactMatch http://identifiers.org/mesh/D006393
property_value: exactMatch http://identifiers.org/snomedct/134335004
property_value: exactMatch NCIT:C3087

[Term]
id: MONDO:0005095
name: spondyloarthropathy
def: "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." [NCIT:C116778]
subset: gard_rare
synonym: "seronegative spondyloarthropathy" EXACT [NCIT:C116778]
synonym: "spondarthropathy" EXACT [DOID:1123]
synonym: "spondylarthropathy" RELATED [GARD:0004971]
synonym: "spondylarthrosis" EXACT [DOID:1123]
synonym: "spondyloarthritis" EXACT [NCIT:C116778]
xref: DOID:1123 {source="EFO:0000706", source="MONDO:equivalentTo"}
xref: EFO:0000706 {source="MONDO:equivalentTo"}
xref: GARD:0004971 {source="MONDO:equivalentTo"}
xref: NCIT:C116778 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005046 {source="EFO:0000706"} ! immune system disease
is_a: MONDO:0006816 {source="DOID:1123", source="NCIT:C116778/inferred"} ! arthropathy
property_value: closeMatch http://identifiers.org/mesh/D025242
property_value: closeMatch http://identifiers.org/snomedct/357182002
property_value: closeMatch http://identifiers.org/snomedct/359173000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949690
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949691
property_value: exactMatch DOID:1123
property_value: exactMatch NCIT:C116778

[Term]
id: MONDO:0005096
name: squamous cell carcinoma
def: "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." [NCIT:C2929]
synonym: "carcinoma, squamous cell, malignant" EXACT [NCIT:C2929]
synonym: "epidermoid carcinoma" EXACT [CSP2005:2000-3145, DOID:1749, NCIT:C2929]
synonym: "epidermoid cell cancer" EXACT [NCIT:C2929]
synonym: "malignant epidermoid cell neoplasm" EXACT [NCIT:C2929]
synonym: "malignant epidermoid cell tumor" EXACT [NCIT:C2929]
synonym: "malignant squamous cell neoplasm" EXACT [NCIT:C2929]
synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929, NCIT:C4971]
synonym: "squamous carcinoma" EXACT [DOID:1749, NCIT:C2929]
synonym: "squamous cell cancer" EXACT [DOID:1749, NCIT:C2929]
synonym: "squamous cell carcinoma" EXACT [NCIT:C2929]
synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:1749]
synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [DOID:1749]
synonym: "squamous cell epithelioma" EXACT [DOID:1749, NCIT:C2929, NCIT:C8999]
xref: DOID:1749 {source="EFO:0000707", source="MONDO:equivalentTo"}
xref: EFO:0000707 {source="MONDO:equivalentTo", source="DOID:1749"}
xref: GARD:0001091 {source="MONDO:equivalentTo"}
xref: ICDO:8070/3 {source="NCIT:C2929"}
xref: MESH:D002294 {source="EFO:0000707", source="MONDO:equivalentTo", source="DOID:1749"}
xref: NCIT:C2929 {source="EFO:0000707", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:1749"}
xref: SCTID:402815007 {source="EFO:0000707", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1749"}
xref: UMLS:C0007137 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2929", source="DOID:1749"}
is_a: MONDO:0002532 {source="MESH:D002294", source="NCIT:C2929"} ! squamous cell neoplasm
is_a: MONDO:0004993 {source="DOID:1749", source="EFO:0000707", source="EFO:0000707/inferred", source="MESH:D002294", source="MONDO:Redundant", source="MONDOLEX:0005096", source="NCIT:C2929"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154605007
property_value: closeMatch http://identifiers.org/snomedct/189566008
property_value: closeMatch http://identifiers.org/snomedct/28899001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751688
property_value: exactMatch DOID:1749
property_value: exactMatch http://identifiers.org/mesh/D002294
property_value: exactMatch http://identifiers.org/snomedct/402815007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007137
property_value: exactMatch NCIT:C2929

[Term]
id: MONDO:0005097
name: squamous cell lung carcinoma
def: "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." [NCIT:C3493]
comment: In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC
synonym: "epidermoid cell carcinoma of lung" EXACT [NCIT:C3493]
synonym: "epidermoid cell carcinoma of the lung" EXACT [DOID:3907, NCIT:C3493]
synonym: "epidermoid cell lung carcinoma" EXACT [NCIT:C3493]
synonym: "lung squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of lung" EXACT [DOID:3907, NCIT:C3493]
synonym: "squamous cell carcinoma of the lung" EXACT [NCIT:C3493]
synonym: "squamous cell lung cancer" EXACT [NCIT:C3493]
synonym: "squamous cell lung carcinoma" EXACT [NCIT:C3493]
xref: DOID:3907 {source="EFO:0000708", source="MONDO:equivalentTo"}
xref: EFO:0000708 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3493 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LUSC {source="MONDO:equivalentTo"}
xref: SCTID:254634000 {source="DOID:3907", source="EFO:0000708", source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"}
xref: UMLS:C0149782 {source="DOID:3907", source="NCIT:C3493", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="DOID:3907", source="EFO:0000708", source="MONDO:Redundant", source="MONDOLEX:0005097", source="NCIT:C3493", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma
is_a: MONDO:0005138 {source="DOID:3907/inferred", source="EFO:0000708", source="MONDO:Redundant", source="NCIT:C3493", source="indirect"} ! lung carcinoma
relationship: excluded_subClassOf MONDO:0005233 {source="DOID:3907", source="ONCOTREE:LUSC"} ! non-small cell lung carcinoma (disease)
property_value: exactMatch DOID:3907
property_value: exactMatch http://identifiers.org/snomedct/254634000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149782
property_value: exactMatch NCIT:C3493

[Term]
id: MONDO:0005098
name: stroke disorder
def: "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." [NCIT:C3390]
comment: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. {xref="https://orcid.org/0000-0001-5208-3432", xref="https://www.epilepsydiagnosis.org/aetiology/stroke-overview.html"}
synonym: "cerebral infarction" EXACT [NCIT:C3390]
synonym: "cerebrovascular accident" EXACT [NCIT:C3390]
synonym: "cerebrovascular accident, (CVA)" EXACT [NCIT:C3390]
synonym: "CVA" EXACT [NCIT:C3390]
synonym: "CVA, cerebrovascular accident" EXACT [NCIT:C3390]
synonym: "stroke" EXACT [NCIT:C3390]
synonym: "stroke syndrome" EXACT [NCIT:C3390]
synonym: "syndrome, stroke" EXACT [NCIT:C3390]
synonym: "undetermined stroke" EXACT [NCIT:C3390]
xref: EFO:0000712 {source="MONDO:equivalentTo"}
xref: HP:0001297
xref: MESH:D020521 {source="MONDO:equivalentTo", source="EFO:0000712"}
xref: NCIT:C3390 {source="MONDO:equivalentTo", source="EFO:0000712"}
xref: NIFSTD:birnlex_12783 {source="EFO:0000712"}
xref: SCTID:230690007 {source="MONDO:equivalentTo", source="EFO:0000712"}
is_a: MONDO:0011057 {source="MESH:D020521", source="NCIT:C3390"} ! cerebrovascular disorder
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
property_value: closeMatch http://identifiers.org/snomedct/422504002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038454
property_value: exactMatch http://identifiers.org/mesh/D020521
property_value: exactMatch http://identifiers.org/snomedct/230690007
property_value: exactMatch NCIT:C3390

[Term]
id: MONDO:0005099
name: subarachnoid hemorrhage (disease)
def: "Intracranial hemorrhage into the subarachnoid space." [NCIT:P378]
synonym: "subarachnoid hemorrhage" EXACT [MONDO:ambiguous]
xref: COHD:432923 {source="MONDO:equivalentTo"}
xref: EFO:0000713 {source="MONDO:equivalentTo"}
xref: HP:0002138 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:430 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000713"}
xref: MESH:D013345 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0000713"}
xref: SCTID:21454007 {source="MONDO:equivalentTo", source="EFO:0000713", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0038525 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="MESH:D013345/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! brain disease
is_a: MONDO:0020676 ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/mesh/D013345
property_value: exactMatch http://identifiers.org/snomedct/21454007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038525
property_value: exactMatch NCIT:C50757

[Term]
id: MONDO:0005100
name: systemic sclerosis
def: "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." [NCIT:C72070]
subset: ordo_disease {source="Orphanet:90291"}
synonym: "diffuse Scleroderma" EXACT [NCIT:C72070]
synonym: "diffuse sclerosis" EXACT [NCIT:C72070]
synonym: "progressive systemic sclerosis" EXACT [DOID:418, MTHICD9_2006:710.1]
synonym: "PSS" EXACT EXCLUDE [DOID:418]
synonym: "PSS (progressive systemic sclerosis)" EXACT [CSP2005:4008-0097, DOID:418]
synonym: "Scleroderma" EXACT [DOID:418]
synonym: "Scleroderma (& [systemic sclerosis])" EXACT [DOID:418]
synonym: "Scleroderma syndrome" EXACT [DOID:418]
synonym: "Scleroderma, diffuse" EXACT [NCIT:C72070]
synonym: "Scleroderma, systemic" EXACT [NCIT:C72070]
synonym: "SSc" EXACT [doi:10.1183/09059180.00005512]
synonym: "SSc, diffuse sclerosis" EXACT [NCIT:C72070]
synonym: "systemic Scleroderma" EXACT [NCIT:C72070]
synonym: "systemic scleroderma" EXACT [NCIT:C72070, Orphanet:90291]
synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM_2006:710.1, MONDO:0019564, NCIT:C72070]
xref: COHD:134442 {source="MONDO:equivalentTo"}
xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"}
xref: EFO:0000717 {source="MONDO:equivalentTo", source="DOID:418"}
xref: GARD:0009748 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M34.0 {source="DOID:418", source="ORDO:90291/btnt", source="Orphanet:90291"}
xref: ICD10:M34.1 {source="ORDO:90291/btnt", source="Orphanet:90291"}
xref: ICD10:M34.2 {source="ORDO:90291/btnt", source="Orphanet:90291"}
xref: ICD10:M34.8 {source="ORDO:90291/btnt", source="Orphanet:90291"}
xref: ICD10:M34.9 {source="DOID:418", source="ORDO:90291/btnt", source="Orphanet:90291"}
xref: ICD9:710.1 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418", source="i2s"}
xref: MedDRA:10042953 {source="ORDO:90291/e", source="Orphanet:90291"}
xref: MESH:D012595 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"}
xref: NCIT:C72070 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"}
xref: Orphanet:90291 {source="MONDO:equivalentTo"}
xref: SCTID:89155008 {source="EFO:0000717", source="MONDO:kboom-pr-0.91/0.75/0.80", source="MONDO:equivalentTo", source="DOID:418"}
xref: UMLS:CN206012 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:90291"} ! respiratory system disease
is_a: MONDO:0016345 {source="Orphanet:90291"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019340 {source="DOID:418", source="NCIT:C72070", source="Orphanet:90291"} ! scleroderma (disease)
is_a: MONDO:0019724 {source="Orphanet:90291"} ! secondary glomerular disease
is_a: MONDO:0030701 ! autoimmune cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/128457007
property_value: closeMatch http://identifiers.org/snomedct/156451000
property_value: closeMatch http://identifiers.org/snomedct/201440007
property_value: closeMatch http://identifiers.org/snomedct/268049000
property_value: closeMatch http://identifiers.org/snomedct/444133002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036421
property_value: exactMatch DOID:418
property_value: exactMatch http://identifiers.org/meddra/10042953
property_value: exactMatch http://identifiers.org/mesh/D012595
property_value: exactMatch http://identifiers.org/snomedct/89155008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206012
property_value: exactMatch NCIT:C72070
property_value: exactMatch Orphanet:90291

[Term]
id: MONDO:0005101
name: ulcerative colitis (disease)
def: "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." [NCIT:P378]
synonym: "colitis ulcerative" EXACT [NCIT:C2952]
synonym: "left-sided ulcerative colitis" NARROW [DOID:8577, MTHICD9_2006:556.5]
synonym: "ulcerative colitis" EXACT [MONDO:ambiguous, NCIT:C2952]
xref: DOID:8577 {source="EFO:0000729", source="MONDO:equivalentTo"}
xref: EFO:0000729 {source="DOID:8577", source="MONDO:equivalentTo"}
xref: HP:0100279 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K51 {source="DOID:8577"}
xref: ICD10:K51.9 {source="DOID:8577"}
xref: ICD9:556 {source="EFO:0000729", source="DOID:8577"}
xref: ICD9:556.5 {source="DOID:8577"}
xref: ICD9:556.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:556.9 {source="DOID:8577", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003093 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"}
xref: NCIT:C2952 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: SCTID:64766004 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.78/0.48"}
xref: UMLS:C0009324 {source="DOID:8577", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2952"}
is_a: MONDO:0005292 {source="DOID:8577", source="MESH:D003093", source="linkedlifedata"} ! colitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155764007
property_value: closeMatch http://identifiers.org/snomedct/196985000
property_value: closeMatch http://identifiers.org/snomedct/196988003
property_value: closeMatch http://identifiers.org/snomedct/196996008
property_value: closeMatch http://identifiers.org/snomedct/266447004
property_value: closeMatch http://identifiers.org/snomedct/27701000
property_value: closeMatch http://identifiers.org/snomedct/441971007
property_value: closeMatch http://identifiers.org/snomedct/68195006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375359
property_value: exactMatch DOID:8577
property_value: exactMatch http://identifiers.org/mesh/D003093
property_value: exactMatch http://identifiers.org/snomedct/64766004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009324
property_value: exactMatch NCIT:C2952

[Term]
id: MONDO:0005102
name: undifferentiated (embryonal) sarcoma
def: "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells." [NCIT:C27096]
synonym: "embryonal sarcoma" EXACT [NCIT:C27096]
synonym: "embryonal sarcoma (undifferentiated sarcoma)" EXACT [NCIT:C27096]
synonym: "embryonal sarcoma, undifferentiated" EXACT [NCIT:C27096]
synonym: "sarcoma, undifferentiated, malignant" EXACT [NCIT:C27096]
synonym: "UES" EXACT [NCIT:C27096]
synonym: "undifferentiated (embryonal) sarcoma" EXACT [NCIT:C27096]
synonym: "undifferentiated sarcoma" EXACT [NCIT:C27096]
xref: EFO:0000730 {source="MONDO:equivalentTo"}
xref: GARD:0008650 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICDO:8805/3 {source="NCIT:C27096"}
xref: ICDO:8991/3 {source="NCIT:C27096"}
xref: NCIT:C27096 {source="EFO:0000730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0855073 {source="MONDO:equivalentTo", source="NCIT:C27096"}
is_a: MONDO:0002397 {source="NCIT:C27096"} ! liver sarcoma
property_value: closeMatch http://identifiers.org/snomedct/128734000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855073
property_value: exactMatch NCIT:C27096

[Term]
id: MONDO:0005103
name: well-differentiated liposarcoma
def: "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." [NCIT:P378]
subset: ordo_histopathological_subtype {source="Orphanet:99971"}
synonym: "ALT" EXACT [Orphanet:99971]
synonym: "atypical lipoma" EXACT [Orphanet:99971]
synonym: "atypical lipomatous tumor" EXACT [Orphanet:99971]
synonym: "WDLS" EXACT [Orphanet:99971]
synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250]
synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250]
synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250]
xref: EFO:0000736 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:99971/ntbt", source="Orphanet:99971"}
xref: ICDO:8851/3 {source="NCIT:C4250"}
xref: NCIT:C4250 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.82/0.90", source="EFO:0000736"}
xref: ONCOTREE:WDLS {source="MONDO:equivalentTo"}
xref: Orphanet:99971 {source="MONDO:equivalentTo"}
xref: UMLS:C1370889 {source="NCIT:C4250", source="MONDO:equivalentTo", source="ORDO:99971/e", source="Orphanet:99971"}
is_a: MONDO:0005060 {source="EFO:0000736", source="NCIT:C4250", source="ONCOTREE:WDLS", source="Orphanet:99971"} ! liposarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370889
property_value: exactMatch NCIT:C4250
property_value: exactMatch Orphanet:99971

[Term]
id: MONDO:0005104
name: aJCC grade 1 sarcoma
def: "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" [EFO:0000737]
synonym: "aJCC G1 sarcoma" RELATED [NCIT:C9419]
synonym: "aJCC grade 1 sarcoma" EXACT [NCIT:C9419]
synonym: "aJCC grade I sarcoma" RELATED [NCIT:C9419]
synonym: "well differentiated sarcoma" RELATED [NCIT:C9419]
xref: EFO:0000737 {source="MONDO:equivalentTo"}
xref: NCIT:C9419 {source="MONDO:equivalentTo", source="EFO:0000737"}
xref: UMLS:C1332066 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9419"}
is_a: MONDO:0005089 {source="EFO:0000737", source="NCIT:C9419/inferred"} ! sarcoma
relationship: has_modifier MONDO:0024491 {source="NCIT:C9419"} ! tumor grade 1, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332066
property_value: exactMatch NCIT:C9419

[Term]
id: MONDO:0005105
name: melanoma (disease)
def: "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C3224]
synonym: "malignant melanoma" EXACT [DOID:1909, NCIT:C3224]
synonym: "melanoma" EXACT [MONDO:ambiguous, NCIT:C3224]
synonym: "melanoma, malignant" EXACT [NCIT:C3224]
synonym: "Naevocarcinoma" EXACT [DOID:1909]
xref: DOID:1909 {source="MONDO:equivalentTo", source="EFO:0000756"}
xref: EFO:0000756 {source="DOID:1909", source="MONDO:equivalentTo"}
xref: HP:0002861 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:8720/3 {source="NCIT:C3224"}
xref: KEGG:05218 {source="DOID:1909", source="MONDO:equivalentTo"}
xref: MESH:D008545 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"}
xref: NCIT:C3224 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"}
xref: ONCOTREE:MEL {source="MONDO:equivalentTo"}
xref: SCTID:372244006 {source="DOID:1909", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.67/0.72", source="EFO:0000756"}
xref: UMLS:C0025202 {source="DOID:1909", source="MONDO:equivalentTo", source="NCIT:C3224"}
xref: UMLS:CN971653 {source="MONDO:equivalentTo"}
is_a: MONDO:0019496 {source="MESH:D008545"} ! neuroendocrine neoplasm
is_a: MONDO:0021143 {source="MESH:D008545", source="MONDO:Redundant", source="NCIT:C3224", source="OWLReasoner:2017", source="linkedlifedata"} ! melanocytic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154501005
property_value: closeMatch http://identifiers.org/snomedct/189749008
property_value: closeMatch http://identifiers.org/snomedct/2092003
property_value: closeMatch http://identifiers.org/snomedct/269503007
property_value: closeMatch http://identifiers.org/snomedct/269577007
property_value: exactMatch DOID:1909
property_value: exactMatch http://identifiers.org/mesh/D008545
property_value: exactMatch http://identifiers.org/snomedct/372244006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN971653
property_value: exactMatch NCIT:C3224

[Term]
id: MONDO:0005106
name: lipoma
def: "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." [NCIT:C3192]
synonym: "benign lipomatous tumor" EXACT EXCLUDE [DOID:3315]
synonym: "benign tumor of adipose tissue" EXACT [DOID:3315, NCIT:C4502]
synonym: "lipoma" EXACT [NCIT:C3192]
synonym: "lipoma, benign" EXACT [NCIT:C3192]
synonym: "lipomatosis, familial multiple" EXACT [DOID:3315]
synonym: "lipomatous neoplasm" EXACT [DOID:3315]
synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [DOID:3315]
synonym: "lipomatous tumor" EXACT [DOID:3315, NCIT:C4248]
synonym: "multiple lipomatosis" NARROW [DOID:3315]
synonym: "tumor of adipose tissue" EXACT EXCLUDE [DOID:3315]
xref: COHD:440358 {source="MONDO:equivalentTo"}
xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"}
xref: EFO:0000759 {source="MONDO:equivalentTo"}
xref: ICD10:D17 {source="DOID:3315"}
xref: ICD10:D17.9 {source="DOID:3315"}
xref: ICD9:214 {source="DOID:3315", source="EFO:0000759"}
xref: ICD9:214.9 {source="DOID:3315", source="MONDO:superClassOf"}
xref: ICDO:8850/0 {source="NCIT:C3192"}
xref: MESH:D008067 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"}
xref: NCIT:C3192 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"}
xref: SCTID:93163002 {source="DOID:3315", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: UMLS:C0023798 {source="DOID:3315", source="MONDO:equivalentTo", source="NCIT:C3192"}
is_a: MONDO:0044983 {source="NCIT:C3192"} ! benign lipomatous neoplasm
property_value: closeMatch http://identifiers.org/mesh/D018205
property_value: closeMatch http://identifiers.org/snomedct/115227001
property_value: closeMatch http://identifiers.org/snomedct/154612003
property_value: closeMatch http://identifiers.org/snomedct/189018005
property_value: closeMatch http://identifiers.org/snomedct/189776008
property_value: closeMatch http://identifiers.org/snomedct/189785008
property_value: closeMatch http://identifiers.org/snomedct/254827004
property_value: closeMatch http://identifiers.org/snomedct/254830006
property_value: closeMatch http://identifiers.org/snomedct/46720004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346118
property_value: exactMatch DOID:3315
property_value: exactMatch http://identifiers.org/mesh/D008067
property_value: exactMatch http://identifiers.org/snomedct/93163002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023798
property_value: exactMatch NCIT:C3192

[Term]
id: MONDO:0005107
name: obsolete hepatocellular adenoma
is_obsolete: true
replaced_by: MONDO:0018902

[Term]
id: MONDO:0005108
name: viral infectious disease
def: "Any disease caused by a virus." [NCIT:P378]
synonym: "infection, viral" EXACT [NCIT:C3439]
synonym: "infections, Viruses" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "viral disease" EXACT [DOID:934, NCIT:C3439]
synonym: "viral disorder" EXACT [NCIT:C3439]
synonym: "viral infection" EXACT [DOID:934, NCIT:C3439]
synonym: "virus infection" EXACT [CSP2005:3099-8150, DOID:934]
synonym: "Viruses caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses disease or disorder" EXACT []
synonym: "Viruses infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Viruses infectious disease" EXACT []
xref: COHD:440029 {source="MONDO:equivalentTo"}
xref: DOID:934 {source="EFO:0000763", source="MONDO:equivalentTo"}
xref: EFO:0000763 {source="MONDO:equivalentTo"}
xref: ICD10:A94 {source="DOID:934"}
xref: ICD10:B34 {source="DOID:934"}
xref: ICD10:B34.9 {source="DOID:934"}
xref: ICD9:060-066.99 {source="DOID:934"}
xref: ICD9:066.9 {source="DOID:934"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:079.99 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014777 {source="DOID:934", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3439 {source="DOID:934", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:34014006 {source="DOID:934", source="EFO:0000763", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"}
is_a: MONDO:0005550 {source="DOID:934", source="EFO:0000763", source="MONDO:Redundant", source="NCIT:C3439", source="linkedlifedata"} ! infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154319002
property_value: closeMatch http://identifiers.org/snomedct/154345006
property_value: closeMatch http://identifiers.org/snomedct/154372003
property_value: closeMatch http://identifiers.org/snomedct/186619002
property_value: closeMatch http://identifiers.org/snomedct/186754003
property_value: closeMatch http://identifiers.org/snomedct/187471008
property_value: closeMatch http://identifiers.org/snomedct/266116004
property_value: closeMatch http://identifiers.org/snomedct/266188005
property_value: closeMatch http://identifiers.org/snomedct/266194002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042769
property_value: exactMatch DOID:934
property_value: exactMatch http://identifiers.org/mesh/D014777
property_value: exactMatch http://identifiers.org/snomedct/34014006
property_value: exactMatch NCIT:C3439

[Term]
id: MONDO:0005109
name: HIV infectious disease
def: "An infection caused by the human immunodeficiency virus." [NCIT:P378]
synonym: "HIV infection" EXACT [CSP2005:1560-6305, DOID:526]
synonym: "Human immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human immunodeficiency virus disease or disorder" EXACT []
synonym: "Human immunodeficiency virus infectious disease" EXACT []
synonym: "human immunodeficiency virus infectious disease" RELATED [DOID:526]
xref: DOID:526 {source="MONDO:equivalentTo", source="EFO:0000764"}
xref: EFO:0000764 {source="MONDO:equivalentTo"}
xref: ICD10:B20 {source="DOID:526"}
xref: ICD10:B20-B20 {source="DOID:526"}
xref: ICD10:B20.B24 {source="MONDO:equivalentTo"}
xref: ICD9:042 {source="DOID:526", source="MONDO:equivalentTo", source="i2s", source="EFO:0000764"}
xref: ICD9:042-042.99 {source="DOID:526", source="EFO:0000764"}
xref: MESH:D015658 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764", source="MONDO:ontobio"}
xref: NCIT:C3108 {source="DOID:526", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0000764"}
xref: SCTID:86406008 {source="DOID:526", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.87", source="EFO:0000764"}
xref: UMLS:C0019693 {source="DOID:526", source="MONDO:equivalentTo", source="NCIT:C3108"}
is_a: MONDO:0021682 {source="MESH:D015658"} ! viral sexually transmitted disease
is_a: MONDO:0022034 ! lentivirus infection
property_value: closeMatch http://identifiers.org/snomedct/123321001
property_value: closeMatch http://identifiers.org/snomedct/186705005
property_value: closeMatch http://identifiers.org/snomedct/187438009
property_value: closeMatch http://identifiers.org/snomedct/187453001
property_value: closeMatch http://identifiers.org/snomedct/19030005
property_value: closeMatch http://identifiers.org/snomedct/72621000119104
property_value: exactMatch DOID:526
property_value: exactMatch http://identifiers.org/mesh/D015658
property_value: exactMatch http://identifiers.org/snomedct/86406008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019693
property_value: exactMatch NCIT:C3108

[Term]
id: MONDO:0005110
name: idiopathic cardiomyopathy
def: "A disease of the heart muscle or myocardium proper whose cause is unknown." [NCIT:C53654]
xref: EFO:0000767 {source="MONDO:equivalentTo"}
xref: NCIT:C53654 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0000767"}
is_a: MONDO:0004994 {source="EFO:0000767", source="NCIT:C53654"} ! cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033141
property_value: exactMatch NCIT:C53654

[Term]
id: MONDO:0005111
name: Epstein-Barr virus infection
def: "An infection that is caused by Epstein-Barr virus." [NCIT:P378]
synonym: "EBV infection" EXACT [MESH:D020031, NCIT:C38759]
synonym: "EBV infections" RELATED [MESH:D020031]
synonym: "Epstein Barr Virus infections" RELATED [MESH:D020031]
synonym: "Epstein-Barr Virus infection" EXACT [NCIT:C38759]
synonym: "Herpesvirus 4 infections, Human" RELATED [MESH:D020031]
synonym: "Human gammaherpesvirus 4 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human gammaherpesvirus 4 disease or disorder" EXACT []
synonym: "Human gammaherpesvirus 4 infectious disease" EXACT []
synonym: "Human Herpes Virus 4 infections" RELATED [MESH:D020031]
synonym: "Human Herpesvirus 4 infections" RELATED [MESH:D020031]
synonym: "infections, EBV" RELATED [MESH:D020031]
synonym: "infections, Epstein-Barr Virus" RELATED [MESH:D020031]
synonym: "Virus infections, Epstein-Barr" RELATED [MESH:D020031]
xref: EFO:0000769 {source="MONDO:equivalentTo"}
xref: MESH:D020031 {source="MONDO:equivalentTo", source="EFO:0000769"}
xref: NCIT:C38759 {source="MONDO:equivalentTo", source="EFO:0000769", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C38759"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: closeMatch http://identifiers.org/mesh/D014412
property_value: exactMatch http://identifiers.org/mesh/D020031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149678
property_value: exactMatch NCIT:C38759

[Term]
id: MONDO:0005112
name: malignant pleural mesothelioma
def: "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." [NCIT:C7376]
synonym: "malignant mesothelioma of pleura" EXACT [DOID:7474, NCIT:C7376]
synonym: "malignant mesothelioma of the pleura" EXACT [NCIT:C7376]
synonym: "malignant pleural mesothelioma" EXACT [NCIT:C7376]
synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural diffuse malignant mesothelioma" EXACT [NCIT:C7376]
synonym: "pleural malignant mesothelioma" EXACT [NCIT:C7376]
xref: COHD:4111917 {source="MONDO:equivalentTo"}
xref: DOID:7474 {source="EFO:0000770", source="MONDO:equivalentTo"}
xref: EFO:0000770 {source="MONDO:equivalentTo"}
xref: ICD10:C45.0 {source="DOID:7474"}
xref: NCIT:C7376 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474"}
xref: SCTID:254645002 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0812413 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7376", source="MONDO:equivalentTo", source="DOID:7474"}
is_a: MONDO:0003308 {source="MONDO:Redundant", source="MONDOLEX:0005112", source="NCIT:C7376"} ! pleural mesothelioma
is_a: MONDO:0006292 {source="DOID:7474", source="MONDO:Redundant", source="MONDOLEX:0005112", source="NCIT:C7376", source="linkedlifedata"} ! malignant mesothelioma (disease)
is_a: MONDO:0006294 {source="DOID:7474", source="MONDO:Redundant", source="NCIT:C7376", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural cancer
property_value: closeMatch http://identifiers.org/snomedct/109373004
property_value: closeMatch http://identifiers.org/snomedct/187878009
property_value: exactMatch DOID:7474
property_value: exactMatch http://identifiers.org/snomedct/254645002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0812413
property_value: exactMatch NCIT:C7376

[Term]
id: MONDO:0005113
name: bacterial infectious disease
def: "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." [NCIT:C2890]
synonym: "Bacteria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria disease or disorder" EXACT []
synonym: "Bacteria infectious disease" EXACT []
synonym: "bacterial disease" EXACT [NCIT:C2890]
synonym: "bacterial disorder" EXACT [NCIT:C2890]
synonym: "bacterial infection" EXACT [MESH:D001424, NCIT:C2890]
synonym: "bacterial infectious disease" EXACT [MONDO:0001026]
synonym: "infection, bacterial" EXACT [MESH:D001424, NCIT:C2890]
synonym: "infections, bacterial" RELATED [MESH:D001424]
xref: COHD:432545 {source="MONDO:equivalentTo"}
xref: DOID:104 {source="MONDO:equivalentTo"}
xref: EFO:0000771 {source="MONDO:equivalentTo"}
xref: ICD10:A49 {source="DOID:104"}
xref: ICD10:A49.9 {source="DOID:104"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:041.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001424 {source="DOID:104", source="MONDO:equivalentTo"}
xref: NCIT:C2890 {source="DOID:104", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:87628006 {source="DOID:104", source="MONDO:equivalentTo"}
xref: UMLS:C0004623 {source="DOID:104", source="MEDGEN:kboom-pr98-c99", source="NCIT:C2890", source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="DOID:104", source="EFO:0000771", source="MONDO:Redundant", source="NCIT:C2890", source="linkedlifedata"} ! infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154318005
property_value: closeMatch http://identifiers.org/snomedct/186470002
property_value: closeMatch http://identifiers.org/snomedct/187347000
property_value: closeMatch http://identifiers.org/snomedct/266182006
property_value: closeMatch http://identifiers.org/snomedct/266187000
property_value: closeMatch http://identifiers.org/snomedct/301811001
property_value: exactMatch DOID:104
property_value: exactMatch http://identifiers.org/mesh/D001424
property_value: exactMatch http://identifiers.org/snomedct/87628006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004623
property_value: exactMatch NCIT:C2890

[Term]
id: MONDO:0005114
name: pneumococcal infection
def: "Infections with bacteria of the species streptococcus pneumoniae." [MESH:D011008]
synonym: "infection, pneumococcal" RELATED [MESH:D011008]
synonym: "infection, Streptococcus pneumoniae" RELATED [MESH:D011008]
synonym: "infections, pneumococcal" RELATED [MESH:D011008]
synonym: "infections, Streptococcus pneumoniae" RELATED [MESH:D011008]
synonym: "pneumococcal infection" EXACT [MESH:D011008]
synonym: "pneumoniae infection, Streptococcus" RELATED [MESH:D011008]
synonym: "pneumoniae infections, Streptococcus" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae disease or disorder" EXACT []
synonym: "Streptococcus pneumoniae infection" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae infections" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae infectious disease" EXACT []
xref: EFO:0000772 {source="MONDO:equivalentTo"}
xref: ICD9:041.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011008 {source="EFO:0000772", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:16814004 {source="EFO:0000772", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0032269 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021680 {source="MESH:D011008", source="MONDO:Redundant"} ! streptococcal infection
property_value: exactMatch http://identifiers.org/mesh/D011008
property_value: exactMatch http://identifiers.org/snomedct/16814004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032269

[Term]
id: MONDO:0005115
name: temporal lobe epilepsy
def: "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" [MESH:D004833]
synonym: "epilepsy of temporal lobe" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial temporal lobe" RELATED [OMIMPS:600512]
synonym: "epilepsy, temporal lobe" EXACT [DOID:3328, MTHICD9_2006:345.4]
synonym: "temporal lobe epilepsy" EXACT [MONDO:patterns/location]
xref: DOID:3328 {source="MONDO:equivalentTo", source="EFO:0000773"}
xref: EFO:0000773 {source="MONDO:equivalentTo"}
xref: MESH:D004833 {source="MONDO:equivalentTo", source="EFO:0000773", source="DOID:3328", source="MONDO:ontobio"}
xref: NIFSTD:birnlex_12733 {source="EFO:0000773"}
xref: OMIMPS:600512 {source="MONDO:equivalentTo"}
xref: SCTID:193000002 {source="MONDO:equivalentTo", source="EFO:0000773", source="DOID:3328", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014556 {source="MONDO:equivalentTo", source="DOID:3328"}
is_a: MONDO:0005384 {source="DOID:3328", source="EFO:0000773", source="MESH:D004833", source="linkedlifedata", source="linkedlifedata/inferred"} ! partial epilepsy
property_value: closeMatch http://identifiers.org/snomedct/155040000
property_value: closeMatch http://identifiers.org/snomedct/84340007
property_value: exactMatch DOID:3328
property_value: exactMatch http://identifiers.org/mesh/D004833
property_value: exactMatch http://identifiers.org/snomedct/193000002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014556

[Term]
id: MONDO:0005116
name: Whipple disease
def: "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." [NCIT:P378]
subset: ordo_disease {source="Orphanet:3452"}
synonym: "intestinal lipodystrophy" EXACT [DOID:8476, MTHICD9_2006:040.2, Orphanet:3452]
synonym: "intestinal lipophagic granulomatosis" EXACT [Orphanet:3452]
synonym: "secondary non-tropical sprue" EXACT [Orphanet:3452]
synonym: "Tropheryma whippelii infection" RELATED [GARD:0007889]
synonym: "Tropheryma whipplei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tropheryma whipplei disease or disorder" EXACT []
synonym: "Tropheryma whipplei infectious disease" EXACT []
synonym: "Whipple disease" EXACT [MONDO:0018099]
synonym: "Whipple's disease" RELATED [CSP2005:1745-6360, DOID:8476, ICD9CM_2006:040.2]
xref: COHD:197782 {source="MONDO:equivalentTo"}
xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"}
xref: EFO:0000775 {source="MONDO:equivalentTo"}
xref: GARD:0007889 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K90.8+ {source="Orphanet:3452", source="ORDO:3452/ntbt"}
xref: ICD10:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"}
xref: ICD10:M14.8* {source="Orphanet:3452", source="ORDO:3452/ntbt"}
xref: ICD9:040.2 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000775", source="DOID:8476"}
xref: MedDRA:10047931 {source="Orphanet:3452", source="ORDO:3452/e"}
xref: MESH:D008061 {source="Orphanet:3452", source="MONDO:equivalentTo", source="EFO:0000775", source="ORDO:3452/e", source="DOID:8476"}
xref: NCIT:C85228 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.21", source="EFO:0000775", source="DOID:8476"}
xref: Orphanet:3452 {source="MONDO:equivalentTo"}
xref: SCTID:41545003 {source="MONDO:equivalentTo", source="EFO:0000775", source="MONDO:kboom-pr-0.92/0.83/0.21", source="DOID:8476"}
xref: UMLS:C0023788 {source="NCIT:C85228", source="Orphanet:3452", source="MONDO:equivalentTo", source="ORDO:3452/e", source="DOID:8476"}
xref: UMLS:C2930851 {source="Orphanet:3452", source="MONDO:equivalentTo", source="ORDO:3452/e", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN204440 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005020 {source="DOID:8476", source="MESH:D008061/inferred", source="MONDO:Redundant", source="Orphanet:3452", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease
is_a: MONDO:0005113 {source="EFO:0000775", source="MESH:D008061/inferred", source="MONDO:Redundant", source="NCIT:C85228", source="Orphanet:3452", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
is_a: MONDO:0017652 {source="Orphanet:3452"} ! rare disease with myoclonus as a major feature
is_a: MONDO:0020010 ! infectious disease of the nervous system
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:8476
property_value: exactMatch http://identifiers.org/meddra/10047931
property_value: exactMatch http://identifiers.org/mesh/C531849
property_value: exactMatch http://identifiers.org/mesh/D008061
property_value: exactMatch http://identifiers.org/snomedct/41545003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204440
property_value: exactMatch NCIT:C85228
property_value: exactMatch Orphanet:3452

[Term]
id: MONDO:0005117
name: Aeromonas hydrophila infectious disease
def: "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." [EFO:0000776]
synonym: "Aeromonas hydrophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aeromonas hydrophila disease or disorder" EXACT []
xref: EFO:0000776 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:0000776", source="MONDO:Redundant"} ! bacterial infectious disease

[Term]
id: MONDO:0005118
name: human granulocytic ehrlichiosis
def: "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." [https://en.wikipedia.org/wiki/Human_granulocytic_anaplasmosis]
subset: gard_rare
synonym: "HGE" BROAD [DOID:0050025, GARD:0000071]
synonym: "human anaplasmosis caused by Anaplasma phagocytophilum" RELATED []
synonym: "human anaplasmosis due to Anaplasma phagocytophilum" EXACT []
synonym: "human ehrlichial infection, human granulocytic type" RELATED [GARD:0000071]
synonym: "human granulocytic anaplasmosis" EXACT [DOID:0050025]
synonym: "human granulocytic ehrlichiosis" EXACT []
synonym: "infection by Anaplasma phagocytophilum" RELATED []
xref: DOID:0050025 {source="MONDO:equivalentTo", source="EFO:0000777"}
xref: EFO:0000777 {source="MONDO:equivalentTo"}
xref: GARD:0000071 {source="MONDO:equivalentTo"}
xref: ICD9:082.49 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:85708001 {source="MONDO:kboom-pr-1.00/0.79/8.53", source="MONDO:equivalentTo"}
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0016003 {source="DOID:0050025", source="MONDO:Redundant"} ! ehrlichiosis
is_a: MONDO:0025303 ! anaplasmosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0483368
property_value: exactMatch DOID:0050025
property_value: exactMatch http://identifiers.org/snomedct/85708001

[Term]
id: MONDO:0005119
name: anthrax infection
def: "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." [NCIT:P378]
comment: Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax
synonym: "anthrax" EXACT [NCIT:C84565]
synonym: "anthrax disease" RELATED [DOID:7427]
synonym: "Bacillus anthracis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacillus anthracis disease or disorder" EXACT []
synonym: "Bacillus anthracis infectious disease" EXACT []
xref: DOID:7427 {source="MONDO:equivalentTo", source="EFO:0000778"}
xref: EFO:0000778 {source="MONDO:equivalentTo"}
xref: GARD:0008157 {source="MONDO:equivalentTo"}
xref: ICD10:A22 {source="DOID:7427"}
xref: ICD10:A22.9 {source="DOID:7427"}
xref: ICD9:022 {source="DOID:7427"}
xref: ICD9:022.8 {source="EFO:0000778"}
xref: ICD9:022.9 {source="DOID:7427", source="EFO:0000778"}
xref: MESH:D000881 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: NCIT:C84565 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: SCTID:409498004 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: UMLS:C0003175 {source="DOID:7427", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:7427"} ! primary bacterial infectious disease
is_a: MONDO:0006923 {source="MESH:D000881", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bacillaceae infectious disease
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:7427"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/154295005
property_value: closeMatch http://identifiers.org/snomedct/17540007
property_value: closeMatch http://identifiers.org/snomedct/186304006
property_value: closeMatch http://identifiers.org/snomedct/187302001
property_value: exactMatch DOID:7427
property_value: exactMatch http://identifiers.org/mesh/D000881
property_value: exactMatch http://identifiers.org/snomedct/409498004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003175
property_value: exactMatch NCIT:C84565

[Term]
id: MONDO:0005120
name: Drosophila C virus infection
def: "A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." [EFO:0000779]
synonym: "Drosophila C virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Drosophila C virus disease or disorder" EXACT []
synonym: "Drosophila C virus infectious disease" EXACT []
xref: EFO:0000779 {source="MONDO:equivalentTo"}
xref: PMID:25253354 {source="EFO:0000779"}
is_a: MONDO:0005108 {source="EFO:0000779", source="MONDO:Redundant", source="MONDOLEX:0005120"} ! viral infectious disease

[Term]
id: MONDO:0005121
name: Enterococcus faecalis infection
def: "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." [EFO:0000780]
synonym: "Enterococcus faecalis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterococcus faecalis disease or disorder" EXACT []
synonym: "Enterococcus faecalis infectious disease" EXACT []
xref: EFO:0000780 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:0000780", source="MONDO:Redundant"} ! bacterial infectious disease

[Term]
id: MONDO:0005122
name: Pectobacterium carotovorum infection
def: "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." [EFO:0000781]
synonym: "Pectobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pectobacterium disease or disorder" EXACT []
synonym: "Pectobacterium infectious disease" EXACT []
xref: EFO:0000781 {source="MONDO:equivalentTo"}
xref: Wikipedia:Pectobacterium_carotovorum {source="EFO:0000781"}
is_a: MONDO:0005113 {source="EFO:0000781", source="MONDO:Redundant"} ! bacterial infectious disease

[Term]
id: MONDO:0005123
name: obsolete Hibiscus chlorotic ringspot virus infection
xref: EFO:0000782 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0005124
name: leprosy
def: "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." [Orphanet:548]
subset: ordo_disease {source="Orphanet:548"}
synonym: "Hansen disease" EXACT [NCIT:C84824]
synonym: "Hansen's disease" EXACT [NCIT:C84824]
synonym: "Mycobacterium leprae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium leprae disease or disorder" EXACT []
synonym: "Mycobacterium leprae infectious disease" EXACT []
xref: COHD:432821 {source="MONDO:equivalentTo"}
xref: DOID:1024 {source="EFO:0001054", source="MONDO:equivalentTo"}
xref: EFO:0001054 {source="DOID:1024", source="MONDO:equivalentTo"}
xref: GARD:0006886 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A30 {source="DOID:1024", source="MONDO:equivalentTo"}
xref: ICD10:A30.0 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"}
xref: ICD10:A30.1 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"}
xref: ICD10:A30.2 {source="Orphanet:548", source="ORDO:548/btnt"}
xref: ICD10:A30.3 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"}
xref: ICD10:A30.4 {source="Orphanet:548", source="ORDO:548/btnt"}
xref: ICD10:A30.5 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"}
xref: ICD10:A30.8 {source="Orphanet:548", source="ORDO:548/btnt"}
xref: ICD10:A30.9 {source="Orphanet:548", source="DOID:1024", source="ORDO:548/btnt"}
xref: ICD9:030 {source="EFO:0001054", source="DOID:1024"}
xref: ICD9:030.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:030.9 {source="DOID:1024", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10024229 {source="ORDO:548/e", source="Orphanet:548"}
xref: MESH:D007918 {source="EFO:0001054", source="ORDO:548/e", source="Orphanet:548", source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84824 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:548 {source="DOID:1024", source="MONDO:equivalentTo"}
xref: SCTID:81004002 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0023343 {source="ORDO:548/e", source="Orphanet:548", source="DOID:1024", source="NCIT:C84824", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:1024"} ! primary bacterial infectious disease
is_a: MONDO:0016104 {source="Orphanet:548"} ! infectious disease with peripheral neuropathy
is_a: MONDO:0018396 {source="Orphanet:548"} ! rare male fertility disorder with obstructive azoospermia
is_a: MONDO:0020590 ! mycobacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154298007
property_value: closeMatch http://identifiers.org/snomedct/186339006
property_value: closeMatch http://identifiers.org/snomedct/187316006
property_value: closeMatch http://identifiers.org/snomedct/266184007
property_value: exactMatch DOID:1024
property_value: exactMatch http://identifiers.org/meddra/10024229
property_value: exactMatch http://identifiers.org/mesh/D007918
property_value: exactMatch http://identifiers.org/snomedct/81004002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023343
property_value: exactMatch NCIT:C84824
property_value: exactMatch Orphanet:548

[Term]
id: MONDO:0005125
name: borderline leprosy
def: "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." [MESH:D015439]
synonym: "borderline leprosy [group B]" EXACT [DOID:1023, ICD9CM_2006:030.3]
synonym: "borderline or dimorphous leprosy" EXACT [DOID:1023, MTHICD9_2006:030.3]
synonym: "Midborderline leprosy" EXACT [DOID:1023]
xref: DOID:1023 {source="EFO:0001055", source="MONDO:equivalentTo"}
xref: EFO:0001055 {source="MONDO:equivalentTo"}
xref: ICD10:A30.3 {source="DOID:1023", source="MONDO:equivalentTo"}
xref: ICD9:030.3 {source="DOID:1023", source="EFO:0001055"}
xref: MESH:D015439 {source="DOID:1023", source="EFO:0001055", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:400154003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0023346 {source="DOID:1023", source="MONDO:equivalentTo"}
xref: UMLS:C3251797 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="DOID:1023", source="EFO:0001055", source="ICD10:A30.3", source="MESH:D015439/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! leprosy
property_value: closeMatch http://identifiers.org/snomedct/400008009
property_value: closeMatch http://identifiers.org/snomedct/50521002
property_value: exactMatch DOID:1023
property_value: exactMatch http://identifiers.org/mesh/D015439
property_value: exactMatch http://identifiers.org/snomedct/400154003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3251797

[Term]
id: MONDO:0005126
name: tuberculoid leprosy
def: "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." [MESH:D015441]
synonym: "smooth leprosy" EXACT [DOID:1025]
synonym: "tuberculoid leprosy [type T]" EXACT [DOID:1025, ICD9CM_2006:030.1]
synonym: "type T leprosy" EXACT [DOID:1025, MTHICD9_2006:030.1]
xref: COHD:136898 {source="MONDO:equivalentTo"}
xref: DOID:1025 {source="EFO:0001056", source="MONDO:equivalentTo"}
xref: EFO:0001056 {source="MONDO:equivalentTo"}
xref: ICD10:A30.1 {source="DOID:1025", source="MONDO:equivalentTo"}
xref: ICD9:030.1 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D015441 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70143003 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023351 {source="DOID:1025", source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="DOID:1025", source="EFO:0001056", source="ICD10:A30.1", source="MESH:D015441/inferred", source="linkedlifedata"} ! leprosy
property_value: exactMatch DOID:1025
property_value: exactMatch http://identifiers.org/mesh/D015441
property_value: exactMatch http://identifiers.org/snomedct/70143003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023351

[Term]
id: MONDO:0005127
name: lepromatous leprosy
def: "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." [MESH:D015440]
synonym: "lepromatous leprosy [type L]" EXACT [DOID:10887, ICD9CM_2006:030.0]
synonym: "type L leprosy" EXACT [DOID:10887, MTHICD9_2006:030.0]
xref: COHD:137207 {source="MONDO:equivalentTo"}
xref: DOID:10887 {source="EFO:0001057", source="MONDO:equivalentTo"}
xref: EFO:0001057 {source="MONDO:equivalentTo"}
xref: ICD10:A30.5 {source="DOID:10887", source="MONDO:equivalentTo"}
xref: ICD9:030.0 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D015440 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:21560005 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023348 {source="DOID:10887", source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="DOID:10887", source="EFO:0001057", source="ICD10:A30.5", source="MESH:D015440/inferred", source="linkedlifedata"} ! leprosy
property_value: exactMatch DOID:10887
property_value: exactMatch http://identifiers.org/mesh/D015440
property_value: exactMatch http://identifiers.org/snomedct/21560005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023348

[Term]
id: MONDO:0005128
name: obsolete sensory system disease
def: "A disease involving the sensory system." [MONDO:DesignPattern]
synonym: "disease of sensory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sensory system" EXACT []
synonym: "disorder of sensory system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sensory system" RELATED [MONDO:patterns/location_top]
synonym: "sensory disease" EXACT [DOID:0050155]
synonym: "sensory system disease" EXACT [MONDO:patterns/location]
synonym: "sensory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050155 {source="EFO:0001058", source="MONDO:equivalentTo"}
xref: EFO:0001058 {source="MONDO:equivalentTo"}
relationship: excluded_subClassOf MONDO:0005071 {source="DOID:0050155", source="EFO:0001058"} ! nervous system disorder
property_value: exactMatch DOID:0050155
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/823 xsd:string
is_obsolete: true

[Term]
id: MONDO:0005129
name: cataract (disease)
def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C26713]
synonym: "cataract" EXACT [MONDO:ambiguous]
synonym: "opacity of the lens" EXACT [NCIT:C26713]
xref: COHD:375545 {source="MONDO:equivalentTo"}
xref: DOID:83 {source="MONDO:equivalentTo", source="EFO:0001059"}
xref: EFO:0001059 {source="MONDO:equivalentTo"}
xref: HP:0000518 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H26 {source="DOID:83"}
xref: ICD9:366 {source="EFO:0001059"}
xref: ICD9:366.44 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:366.8 {source="MONDO:relatedTo", source="i2s", source="DOID:83"}
xref: ICD9:366.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002386 {source="MONDO:equivalentTo", source="EFO:0001059", source="MONDO:ontobio", source="DOID:83"}
xref: NCIT:C26713 {source="MONDO:equivalentTo", source="EFO:0001059", source="NCIT:C26713"}
xref: OMIMPS:116200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:193570009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0001059"}
is_a: MONDO:0001176 {source="DOID:83", source="MESH:D002386", source="NCIT:C26713", source="linkedlifedata"} ! lens disease
property_value: closeMatch http://identifiers.org/snomedct/128306009
property_value: closeMatch http://identifiers.org/snomedct/193620000
property_value: closeMatch http://identifiers.org/snomedct/193622008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029531
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086543
property_value: exactMatch DOID:83
property_value: exactMatch http://identifiers.org/mesh/D002386
property_value: exactMatch http://identifiers.org/snomedct/193570009
property_value: exactMatch NCIT:C26713

[Term]
id: MONDO:0005130
name: celiac disease
def: "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." [NCIT:C26714]
synonym: "celiac sprue" EXACT [CSP2005:1248-3893, DOID:10608]
synonym: "coeliac disease" EXACT [DOID:10608]
synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714]
synonym: "idiopathic steatorrhea" EXACT [DOID:10608, MTHICD9_2006:579.0]
synonym: "non tropical sprue" EXACT [NCIT:C26714]
xref: COHD:194992 {source="MONDO:equivalentTo"}
xref: DOID:10608 {source="MONDO:equivalentTo", source="EFO:0001060"}
xref: EFO:0001060 {source="MONDO:equivalentTo", source="DOID:10608"}
xref: GARD:0011998 {source="MONDO:equivalentTo"}
xref: ICD10:K90.0 {source="MONDO:equivalentTo", source="DOID:10608"}
xref: ICD9:579.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:10608", source="EFO:0001060"}
xref: MESH:D002446 {source="MONDO:equivalentTo", source="DOID:10608", source="MONDO:ontobio", source="EFO:0001060"}
xref: NCIT:C26714 {source="MONDO:equivalentTo", source="DOID:10608", source="exact-label-match", source="EFO:0001060"}
xref: OMIMPS:212750 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:396331005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10608", source="EFO:0001060"}
xref: UMLS:C0007570 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:10608", source="NCIT:C26714"}
is_a: MONDO:0000588 {source="DOID:10608"} ! autoimmune disease of gastrointestinal tract
is_a: MONDO:0020598 ! malabsorption syndrome
is_a: MONDO:0024635 ! small intestine disease
property_value: closeMatch http://identifiers.org/snomedct/155842007
property_value: closeMatch http://identifiers.org/snomedct/197477005
property_value: closeMatch http://identifiers.org/snomedct/197481005
property_value: closeMatch http://identifiers.org/snomedct/23829007
property_value: closeMatch http://identifiers.org/snomedct/266478000
property_value: closeMatch Orphanet:555
property_value: exactMatch DOID:10608
property_value: exactMatch http://identifiers.org/mesh/D002446
property_value: exactMatch http://identifiers.org/snomedct/396331005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007570
property_value: exactMatch NCIT:C26714

[Term]
id: MONDO:0005131
name: cervical carcinoma
def: "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." [NCIT:C9039]
synonym: "cancer of cervix" BROAD [DOID:2893]
synonym: "cancer of cervix" EXACT [NCIT:C9039]
synonym: "cancer of the cervix" EXACT [NCIT:C9039]
synonym: "cancer of the uterine cervix" EXACT [NCIT:C9039]
synonym: "cancer of uterine cervix" EXACT [NCIT:C9039]
synonym: "carcinoma cervix uteri" EXACT [DOID:2893]
synonym: "carcinoma of cervix" EXACT [DOID:2893, MTH:166, NCIT:C9039]
synonym: "carcinoma of cervix uteri" EXACT [NCIT:C9039]
synonym: "carcinoma of the cervix" EXACT [NCIT:C9039]
synonym: "carcinoma of the cervix uteri" EXACT [DOID:2893, NCIT:C9039]
synonym: "carcinoma of the uterine cervix" EXACT [NCIT:C9039]
synonym: "carcinoma of uterine cervix" EXACT [MONDO:patterns/carcinoma, NCIT:C9039]
synonym: "cervical cancer" BROAD [NCIT:C9039]
synonym: "cervical cancer, NOS" BROAD [NCIT:C9039]
synonym: "cervical carcinoma" EXACT [NCIT:C9039]
synonym: "cervix cancer" BROAD [NCIT:C9039]
synonym: "cervix carcinoma" EXACT [MONDO:0002456, NCIT:C9039]
synonym: "cervix uteri carcinoma" EXACT [NCIT:C9039]
synonym: "uterine cervix cancer" BROAD [NCIT:C9039]
synonym: "uterine cervix carcinoma" EXACT [MONDO:patterns/location, NCIT:C9039]
xref: DOID:2893 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0001061"}
xref: EFO:0001061 {source="MONDO:equivalentTo"}
xref: NCIT:C9039 {source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"}
xref: SCTID:285432005 {source="MONDO:kboom-pr-0.90/0.76/0.50", source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"}
xref: UMLS:C0302592 {source="DOID:2893", source="MEDGEN:kboom-pr98-c99", source="NCIT:C9039", source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="DOID:2893", source="MONDO:Redundant", source="MONDOLEX:0005131", source="NCIT:C9039", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervical cancer
is_a: MONDO:0005213 ! uterine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154522004
property_value: closeMatch http://identifiers.org/snomedct/154525002
property_value: closeMatch http://identifiers.org/snomedct/188174005
property_value: closeMatch http://identifiers.org/snomedct/269596006
property_value: closeMatch http://identifiers.org/snomedct/269599004
property_value: closeMatch http://identifiers.org/snomedct/93752005
property_value: exactMatch DOID:2893
property_value: exactMatch http://identifiers.org/snomedct/285432005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302592
property_value: exactMatch NCIT:C9039

[Term]
id: MONDO:0005132
name: cytomegalovirus infection
def: "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies." [NCIT:C53649]
synonym: "CMV infection" EXACT [NCIT:C53649]
synonym: "Cytomegaloviral infection" EXACT [NCIT:C53649]
synonym: "HCMV infection" EXACT [NCIT:C53649]
xref: COHD:440032 {source="MONDO:equivalentTo"}
xref: EFO:0001062 {source="MONDO:equivalentTo"}
xref: ICD9:078.5 {source="MONDO:equivalentTo", source="i2s", source="EFO:0001062"}
xref: MESH:D003586 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0001062"}
xref: NCIT:C53649 {source="MONDO:equivalentTo"}
xref: SCTID:28944009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0001062"}
xref: UMLS:C0010823 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C53649", source="MONDO:equivalentTo"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: exactMatch http://identifiers.org/mesh/D003586
property_value: exactMatch http://identifiers.org/snomedct/28944009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010823
property_value: exactMatch NCIT:C112314
property_value: exactMatch NCIT:C53649

[Term]
id: MONDO:0005133
name: endometriosis (disease)
def: "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." [NCIT:C3014]
synonym: "endometriosis" EXACT [MONDO:ambiguous, NCIT:C3014]
xref: COHD:433527 {source="MONDO:equivalentTo"}
xref: DOID:289 {source="EFO:0001065", source="MONDO:equivalentTo"}
xref: EFO:0001065 {source="MONDO:equivalentTo", source="DOID:289"}
xref: HP:0030127 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N80 {source="MONDO:equivalentTo", source="DOID:289"}
xref: ICD10:N80.9 {source="DOID:289"}
xref: ICD9:617 {source="EFO:0001065", source="DOID:289"}
xref: ICD9:617.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:617.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:289"}
xref: MESH:D004715 {source="EFO:0001065", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:289"}
xref: NCIT:C3014 {source="EFO:0001065", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:289"}
xref: SCTID:129103003 {source="MONDO:kboom-pr-1.00/0.76/7.75", source="MONDO:equivalentTo", source="DOID:289"}
is_a: MONDO:0000931 ! endometrial disease
property_value: closeMatch http://identifiers.org/snomedct/103677003
property_value: closeMatch http://identifiers.org/snomedct/11871002
property_value: closeMatch http://identifiers.org/snomedct/155988000
property_value: closeMatch http://identifiers.org/snomedct/198246007
property_value: closeMatch http://identifiers.org/snomedct/198259004
property_value: closeMatch http://identifiers.org/snomedct/266588002
property_value: closeMatch http://identifiers.org/snomedct/396224008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014175
property_value: exactMatch DOID:289
property_value: exactMatch http://identifiers.org/mesh/D004715
property_value: exactMatch http://identifiers.org/snomedct/129103003
property_value: exactMatch NCIT:C3014

[Term]
id: MONDO:0005134
name: experimental autoimmune encephalomyelitis
def: "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." [NCIT:P378]
xref: EFO:0001066 {source="MONDO:equivalentTo"}
xref: MESH:D004681 {source="EFO:0001066", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0005156 {source="EFO:0001066"} ! encephalomyelitis
is_a: MONDO:0006704 {source="MESH:D004681"} ! CNS demyelinating autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/27040004
property_value: closeMatch http://identifiers.org/snomedct/50776006
property_value: exactMatch http://identifiers.org/mesh/D004681
property_value: exactMatch NCIT:C3006

[Term]
id: MONDO:0005135
name: parasitic infection
def: "A successful invasion of a host by an organism that uses the host for food and shelter." [NCIT:C27864]
synonym: "disease caused by parasite" EXACT []
synonym: "disease, parasitic" RELATED [MESH:D010272]
synonym: "diseases, parasitic" RELATED [MESH:D010272]
synonym: "ectoparasitic disease" NARROW [DOID:1398]
synonym: "infestation" RELATED []
synonym: "parasite infestation" RELATED []
synonym: "parasitemia" NARROW [DOID:1398]
synonym: "parasitic disease" EXACT [MESH:D010272, NCIT:C27864]
synonym: "parasitic infection" EXACT [NCIT:C27864]
synonym: "parasitic infectious disease" RELATED [DOID:1398]
synonym: "parasitism" RELATED []
synonym: "parasitosis" RELATED []
xref: DOID:1398 {source="EFO:0001067", source="MONDO:equivalentTo"}
xref: EFO:0001067 {source="MONDO:equivalentTo"}
xref: ICD10:H44.12 {source="DOID:1398"}
xref: ICD9:129 {source="EFO:0001067"}
xref: ICD9:134.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:134.9 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:136.4 {source="EFO:0001067"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:360.13 {source="EFO:0001067", source="DOID:1398", source="MONDO:superClassOf"}
xref: ICD9:376.13 {source="EFO:0001067"}
xref: MESH:D010272 {source="EFO:0001067", source="MONDO:equivalentTo"}
xref: NCIT:C27864 {source="EFO:0001067", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:17322007 {source="EFO:0001067", source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="DOID:1398", source="EFO:0001067", source="NCIT:C27864", source="linkedlifedata"} ! infectious disease
property_value: closeMatch http://identifiers.org/snomedct/128938009
property_value: closeMatch http://identifiers.org/snomedct/128940004
property_value: closeMatch http://identifiers.org/snomedct/187239003
property_value: closeMatch http://identifiers.org/snomedct/193273005
property_value: closeMatch http://identifiers.org/snomedct/56733003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0747256
property_value: exactMatch DOID:1398
property_value: exactMatch http://identifiers.org/mesh/D010272
property_value: exactMatch http://identifiers.org/snomedct/17322007
property_value: exactMatch NCIT:C27864

[Term]
id: MONDO:0005136
name: malaria
def: "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." [https://rarediseases.info.nih.gov/diseases/6961/malaria]
subset: gard_rare {source="GARD:0006961"}
subset: ordo_disease {source="Orphanet:673"}
subset: predisposition
synonym: "induced malaria" NARROW [DOID:12365]
synonym: "malaria, cerebral, resistance to" RELATED [OMIM:611162]
synonym: "malaria, cerebral, susceptibility to" RELATED [OMIM:611162]
synonym: "malaria, resistance to" RELATED [OMIM:611162]
synonym: "malaria, severe, resistance to" RELATED [OMIM:611162]
synonym: "malaria, severe, susceptibility to" RELATED [OMIM:611162]
synonym: "malaria, susceptibility to" RELATED [OMIM:611162]
synonym: "plasmodiosis" RELATED []
xref: COHD:438067 {source="MONDO:equivalentTo"}
xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"}
xref: EFO:0001068 {source="MONDO:equivalentTo", source="DOID:12365"}
xref: GARD:0006961 {source="MONDO:equivalentTo"}
xref: ICD10:B50.0 {source="ORDO:673/btnt"}
xref: ICD10:B50.8 {source="ORDO:673/btnt"}
xref: ICD10:B50.9 {source="ORDO:673/btnt"}
xref: ICD10:B51.0 {source="ORDO:673/btnt"}
xref: ICD10:B51.8 {source="ORDO:673/btnt"}
xref: ICD10:B51.9 {source="ORDO:673/btnt"}
xref: ICD10:B52.0 {source="ORDO:673/btnt"}
xref: ICD10:B52.8 {source="ORDO:673/btnt"}
xref: ICD10:B52.9 {source="ORDO:673/btnt"}
xref: ICD10:B53 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ICD10:B53.0 {source="ORDO:673/btnt", source="MONDO:relatedTo"}
xref: ICD10:B53.1 {source="ORDO:673/btnt"}
xref: ICD10:B53.8 {source="ORDO:673/btnt"}
xref: ICD10:B54 {source="ORDO:673/btnt", source="MONDO:cjm", source="MONDO:superClassOf", source="DOID:12365", source="Orphanet:673"}
xref: ICD9:084 {source="EFO:0001068", source="DOID:12365"}
xref: ICD9:084.6 {source="DOID:12365"}
xref: MedDRA:10025487 {source="ORDO:673/e", source="Orphanet:673"}
xref: MESH:D008288 {source="EFO:0001068", source="MONDO:equivalentTo", source="ORDO:673/e", source="MONDO:ontobio", source="DOID:12365", source="Orphanet:673"}
xref: NCIT:C34797 {source="EFO:0001068", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:12365"}
xref: Orphanet:673 {source="MONDO:equivalentTo", source="OMIM:611162"}
xref: SCTID:61462000 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"}
xref: UMLS:C0024530 {source="MONDO:equivalentTo", source="ORDO:673/e", source="NCIT:C34797", source="DOID:12365", source="Orphanet:673"}
is_a: MONDO:0002428 {source="DOID:12365", source="MESH:D008288"} ! protozoa infectious disease
is_a: MONDO:0005154 ! liver disease
is_a: MONDO:0043424 ! digestive system infectious disease
is_a: MONDO:0044347 ! erythrocyte disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0002280 {source="Wikidata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/105649009
property_value: closeMatch http://identifiers.org/snomedct/154374002
property_value: closeMatch http://identifiers.org/snomedct/186797008
property_value: closeMatch http://identifiers.org/snomedct/187510004
property_value: closeMatch http://identifiers.org/snomedct/248437004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855457
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969379
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970028
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970029
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970030
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2720293
property_value: exactMatch DOID:12365
property_value: exactMatch http://identifiers.org/meddra/10025487
property_value: exactMatch http://identifiers.org/mesh/D008288
property_value: exactMatch http://identifiers.org/snomedct/61462000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024530
property_value: exactMatch NCIT:C34797
property_value: exactMatch Orphanet:673
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6961/malaria xsd:anyURI {source="GARD:0006961"}

[Term]
id: MONDO:0005137
name: nutritional disorder
def: "Any condition related to a disturbance between proper intake and utilization of nourishment." [NCIT:C26836]
synonym: "nutrition disease" RELATED [DOID:374]
synonym: "nutritional disorder" EXACT [DOID:374, NCIT:C26836]
xref: DOID:374 {source="EFO:0001069", source="MONDO:equivalentTo"}
xref: EFO:0001069 {source="MONDO:equivalentTo"}
xref: ICD9:783.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009748 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374", source="MONDO:ontobio"}
xref: NCIT:C26836 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374", source="exact-label-match"}
xref: SCTID:2492009 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374", source="MONDO:kboom-pr-1.00/0.91/28.54"}
xref: UMLS:C3714509 {source="MONDO:equivalentTo", source="DOID:374", source="NCIT:C26836"}
is_a: MONDO:0024297 {source="MESH:D009748", source="MONDO:Entailed", source="MONDO:Redundant"} ! nutritional or metabolic disease
relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C26836"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0006504 {source="DOID:374"} ! acquired metabolic disease
property_value: closeMatch http://identifiers.org/mesh/D044342
property_value: closeMatch http://identifiers.org/snomedct/191077005
property_value: exactMatch DOID:374
property_value: exactMatch http://identifiers.org/mesh/D009748
property_value: exactMatch http://identifiers.org/snomedct/2492009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714509
property_value: exactMatch NCIT:C26836

[Term]
id: MONDO:0005138
name: lung carcinoma
def: "A carcinoma that arises from epithelial cells of the lung" [MONDO:DesignPattern]
synonym: "cancer of lung" BROAD [DOID:3905, NCIT:C4878]
synonym: "cancer of the lung" BROAD [NCIT:C4878]
synonym: "carcinoma of lung" EXACT [DOID:3905, MONDO:patterns/carcinoma, NCIT:C4878]
synonym: "carcinoma of the lung" EXACT [NCIT:C4878]
synonym: "lung cancer" BROAD [NCIT:C4878]
synonym: "lung cancer, NOS" BROAD [NCIT:C4878]
synonym: "lung carcinoma" EXACT [MONDO:patterns/location, NCIT:C4878]
xref: DOID:3905 {source="MONDO:equivalentTo", source="EFO:0001071"}
xref: EFO:0001071 {source="MONDO:equivalentTo", source="DOID:3905"}
xref: ICD10:C34.90 {source="DOID:3905"}
xref: NCIT:C4878 {source="MONDO:equivalentTo", source="EFO:0001071", source="DOID:3905"}
xref: UMLS:C0684249 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4878", source="DOID:3905"}
is_a: MONDO:0004993 {source="DOID:3905", source="EFO:0001071", source="MONDO:Redundant", source="MONDOLEX:0005138", source="NCIT:C4878"} ! carcinoma
is_a: MONDO:0008903 {source="DOID:3905", source="MONDO:Redundant", source="MONDOLEX:0005138", source="NCIT:C4878"} ! lung cancer
property_value: closeMatch http://identifiers.org/snomedct/154485001
property_value: closeMatch http://identifiers.org/snomedct/187875007
property_value: closeMatch http://identifiers.org/snomedct/269561006
property_value: closeMatch http://identifiers.org/snomedct/448993007
property_value: exactMatch DOID:3905
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684249
property_value: exactMatch NCIT:C4878

[Term]
id: MONDO:0005139
name: morbid obesity
def: "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." [NCIT:P378]
synonym: "severe obesity" EXACT [DOID:11981, MTHICD9_2006:278.01]
xref: COHD:434005 {source="MONDO:equivalentTo"}
xref: DOID:11981 {source="MONDO:equivalentTo", source="EFO:0001074"}
xref: EFO:0001074 {source="MONDO:equivalentTo"}
xref: ICD9:278.01 {source="DOID:11981", source="EFO:0001074"}
xref: MESH:D009767 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11981", source="EFO:0001074"}
xref: NIFSTD:nlx_dys_20090303 {source="EFO:0001074"}
xref: SCTID:83911000119104 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:11981"}
xref: UMLS:C0028756 {source="MONDO:equivalentTo", source="DOID:11981"}
is_a: MONDO:0011122 {source="DOID:11981", source="EFO:0001074", source="linkedlifedata"} ! obesity disorder
property_value: closeMatch http://identifiers.org/snomedct/190967003
property_value: closeMatch http://identifiers.org/snomedct/238136002
property_value: closeMatch http://identifiers.org/snomedct/389986000
property_value: exactMatch DOID:11981
property_value: exactMatch http://identifiers.org/mesh/D009767
property_value: exactMatch http://identifiers.org/snomedct/83911000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028756
property_value: exactMatch NCIT:C34858

[Term]
id: MONDO:0005140
name: ovarian carcinoma
def: "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002" [NCIT:C4908]
comment: Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT.
synonym: "carcinoma of ovary" EXACT [MONDO:patterns/carcinoma, NCIT:C4908]
synonym: "carcinoma of the ovary" EXACT [NCIT:C4908]
synonym: "epithelial ovarian cancer" EXACT [NCIT:C4908]
synonym: "ovarian cancer" EXACT [NCIT:C4908]
synonym: "ovarian carcinoma" EXACT [DOID:4001, NCIT:C4908]
synonym: "ovarian epithelial cancer" EXACT [NCIT:C4908]
synonym: "ovary carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4001 {source="EFO:0001075", source="MONDO:equivalentTo"}
xref: EFO:0001075 {source="DOID:4001", source="MONDO:equivalentTo"}
xref: NCIT:C4908 {source="DOID:4001", source="EFO:0001075", source="MONDO:equivalentTo"}
is_a: MONDO:0018364 {source="DOID:4001", source="MONDO:Redundant", source="MONDOLEX:0005140", source="NCIT:C4908"} ! malignant epithelial tumor of ovary
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677886
property_value: exactMatch DOID:4001
property_value: exactMatch NCIT:C4908

[Term]
id: MONDO:0005141
name: Pseudomonas infection
def: "Infections with bacteria of the genus pseudomonas." [MESH:D011552]
synonym: "Pseudomonas caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pseudomonas disease or disorder" EXACT []
synonym: "Pseudomonas infectious disease" EXACT []
xref: EFO:0001076 {source="MONDO:equivalentTo"}
xref: ICD9:041.7 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011552 {source="EFO:0001076", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:63398001 {source="EFO:0001076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46"}
is_a: MONDO:0005113 {source="EFO:0001076", source="MESH:D011552/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D011552
property_value: exactMatch http://identifiers.org/snomedct/63398001

[Term]
id: MONDO:0005142
name: Pseudomonas aeruginosa CF5 infection
def: "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." [EFO:0001077]
xref: EFO:0001077 {source="MONDO:equivalentTo"}
is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease

[Term]
id: MONDO:0005143
name: Pseudomonas aeruginosa PA14 infection
def: "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." [EFO:0001078]
xref: EFO:0001078 {source="MONDO:equivalentTo"}
is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease

[Term]
id: MONDO:0005144
name: familial amyotrophic lateral sclerosis
def: "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary amyotrophic lateral sclerosis" EXACT [MONDO:patterns/hereditary]
xref: EFO:0001356 {source="MONDO:equivalentTo"}
xref: OMIMPS:105400 {source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="EFO:0001356", source="MONDO:Redundant", source="MONDOLEX:0005144"} ! amyotrophic lateral sclerosis
is_a: MONDO:0024257 ! hereditary motor neuron disease
intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis
intersection_of: has_modifier MONDO:0021152 ! inherited
disjoint_from: MONDO:0005145 ! sporadic amyotrophic lateral sclerosis

[Term]
id: MONDO:0005145
name: sporadic amyotrophic lateral sclerosis
def: "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." [EFO:0001357]
xref: EFO:0001357 {source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="EFO:0001357", source="MONDOLEX:0005145"} ! amyotrophic lateral sclerosis

[Term]
id: MONDO:0005146
name: post-traumatic stress disorder
def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." [NCIT:P378]
synonym: "combat neurosis" EXACT [NCIT:C3389]
synonym: "post-traumatic stress disorder" EXACT [DOID:2055]
synonym: "PTSD" EXACT [NCIT:C3389]
synonym: "traumatic neurosis" EXACT [CSP2005:4000-0295, DOID:2055]
xref: DOID:2055 {source="MONDO:equivalentTo", source="EFO:0001358"}
xref: EFO:0001358 {source="MONDO:equivalentTo"}
xref: ICD10:F43.1 {source="DOID:2055"}
xref: ICD10:F43.10 {source="DOID:2055"}
xref: ICD9:309.81 {source="DOID:2055", source="MONDO:equivalentTo", source="i2s", source="EFO:0001358"}
xref: MESH:D013313 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358", source="MONDO:ontobio"}
xref: NCIT:C3389 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: NIFSTD:birnlex_12679 {source="EFO:0001358"}
xref: SCTID:47505003 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358", source="MONDO:kboom-pr-1.00/0.79/7.72"}
is_a: MONDO:0005379 {source="NCIT:C3389"} ! neurotic disorder
property_value: closeMatch http://identifiers.org/snomedct/192415000
property_value: closeMatch http://identifiers.org/snomedct/313182004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038436
property_value: exactMatch DOID:2055
property_value: exactMatch http://identifiers.org/mesh/D013313
property_value: exactMatch http://identifiers.org/snomedct/47505003
property_value: exactMatch NCIT:C3389

[Term]
id: MONDO:0005147
name: type 1 diabetes mellitus
def: "A chronic condition characterized by minimal or absent production of insulin by the pancreas." [NCIT:C2986]
synonym: "diabetes mellitis type 1" EXACT []
synonym: "diabetes mellitis type I" EXACT []
synonym: "IDDM" EXACT DEPRECATED [DOID:9744]
synonym: "immune mediated diabetes" EXACT [NCIT:C2986]
synonym: "insulin dependent diabetes" EXACT DEPRECATED [NCIT:C2986]
synonym: "insulin dependent diabetes mellitus" EXACT DEPRECATED [NCIT:C2986]
synonym: "insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9744]
synonym: "juvenile diabetes" EXACT DEPRECATED [NCIT:C2986]
synonym: "type 1 diabetes" EXACT [NCIT:C2986]
synonym: "type I diabetes" EXACT [NCIT:C2986]
synonym: "type I diabetes mellitus" EXACT [DOID:9744]
xref: COHD:201254 {source="MONDO:equivalentTo"}
xref: DOID:9744 {source="MONDO:equivalentTo", source="EFO:0001359"}
xref: EFO:0001359 {source="DOID:9744", source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:9744"}
xref: KEGG:04940 {source="DOID:9744", source="MONDO:equivalentTo"}
xref: MESH:D003922 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: NCIT:C2986 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: SCTID:46635009 {source="DOID:9744", source="MONDO:kboom-pr-0.89/0.74/0.44", source="MONDO:equivalentTo", source="EFO:0001359"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0005015 {source="DOID:9744", source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986", source="linkedlifedata"} ! diabetes mellitus (disease)
relationship: disease_causes_feature MONDO:0012819 ! diabetic ketoacidosis
property_value: closeMatch http://identifiers.org/snomedct/11530004
property_value: closeMatch http://identifiers.org/snomedct/154673001
property_value: closeMatch http://identifiers.org/snomedct/190322003
property_value: closeMatch http://identifiers.org/snomedct/190362004
property_value: closeMatch http://identifiers.org/snomedct/267469001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011854
property_value: exactMatch DOID:9744
property_value: exactMatch http://identifiers.org/mesh/D003922
property_value: exactMatch http://identifiers.org/snomedct/46635009
property_value: exactMatch NCIT:C2986

[Term]
id: MONDO:0005148
name: type 2 diabetes mellitus
def: "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." [NCIT:P378]
synonym: "adult onset diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "adult-onset diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "diabetes mellitis type 2" EXACT []
synonym: "diabetes mellitis type II" EXACT []
synonym: "diabetes, type 2" EXACT [NCIT:C26747]
synonym: "NIDDM" EXACT DEPRECATED [DOID:9352, NCIT:C26747]
synonym: "non-insulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "non-insulin dependent diabetes mellitus" EXACT DEPRECATED [NCIT:C26747]
synonym: "non-insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9352]
synonym: "noninsulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "T2DM - type 2 diabetes mellitus" EXACT [NCIT:C26747]
synonym: "type 2 diabetes" EXACT [NCIT:C26747]
synonym: "type 2 diabetes mellitus" EXACT [NCIT:C26747]
synonym: "type 2 diabetes mellitus non-insulin dependent" EXACT [NCIT:C26747]
synonym: "type II diabetes" EXACT [NCIT:C26747]
synonym: "type II diabetes mellitus" EXACT [DOID:9352, NCIT:C26747]
xref: COHD:201826 {source="MONDO:equivalentTo"}
xref: DOID:9352 {source="MONDO:equivalentTo", source="EFO:0001360"}
xref: EFO:0001360 {source="MONDO:equivalentTo", source="DOID:9352"}
xref: ICD10:E11 {source="DOID:9352"}
xref: KEGG:04930 {source="MONDO:equivalentTo", source="DOID:9352"}
xref: MESH:D003924 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: NCIT:C26747 {source="MONDO:kboom-pr-0.70/0.38/0.10", source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: SCTID:44054006 {source="MONDO:kboom-pr-0.89/0.75/0.44", source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: UMLS:CN244395 {source="MONDO:equivalentTo"}
is_a: MONDO:0005015 {source="DOID:9352", source="EFO:0001360", source="MESH:D003924", source="NCIT:C26747", source="linkedlifedata"} ! diabetes mellitus (disease)
property_value: closeMatch http://identifiers.org/snomedct/154672006
property_value: closeMatch http://identifiers.org/snomedct/190323008
property_value: closeMatch http://identifiers.org/snomedct/190384004
property_value: closeMatch http://identifiers.org/snomedct/267468009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011860
property_value: exactMatch DOID:9352
property_value: exactMatch http://identifiers.org/mesh/D003924
property_value: exactMatch http://identifiers.org/snomedct/44054006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244395
property_value: exactMatch NCIT:C26747

[Term]
id: MONDO:0005149
name: pulmonary hypertension
def: "Increased pressure within the pulmonary circulation due to lung or heart disorder." [NCIT:P378]
xref: DOID:6432 {source="EFO:0001361", source="MONDO:equivalentTo"}
xref: EFO:0001361 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="DOID:6432"}
xref: MESH:D006976 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70995007 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005044 {source="DOID:6432", source="EFO:0001361"} ! hypertensive disorder
property_value: closeMatch http://identifiers.org/snomedct/155328008
property_value: closeMatch http://identifiers.org/snomedct/266293003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020542
property_value: exactMatch DOID:6432
property_value: exactMatch http://identifiers.org/mesh/D006976
property_value: exactMatch http://identifiers.org/snomedct/70995007
property_value: exactMatch NCIT:C3120

[Term]
id: MONDO:0005150
name: age-related macular degeneration
def: "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378]
synonym: "age related macular degeneration" RELATED [DOID:10871]
synonym: "age related Maculopathies" EXACT [DOID:10871]
synonym: "age related maculopathy" EXACT [DOID:10871]
synonym: "age-related macular degeneration" EXACT [DOID:10871]
synonym: "AMD" EXACT [NCIT:C84391]
synonym: "ARMD" EXACT [NCIT:C84391]
synonym: "macular degeneration, age-related" EXACT [OMIMPS:603075]
synonym: "Senile macular degeneration" EXACT [DOID:10871]
synonym: "Senile macular retinal degeneration" EXACT [DOID:10871]
xref: COHD:374028 {source="MONDO:equivalentTo"}
xref: DOID:10871 {source="EFO:0001365", source="MONDO:equivalentTo"}
xref: EFO:0001365 {source="MONDO:equivalentTo", source="DOID:10871"}
xref: ICD10:H35.30 {source="DOID:10871"}
xref: ICD9:362.50 {source="DOID:10871"}
xref: NCIT:C84391 {source="EFO:0001365", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:10871"}
xref: NIFSTD:birnlex_12812 {source="EFO:0001365"}
xref: OMIMPS:603075 {source="MONDO:equivalentTo", source="DOID:10871"}
xref: Orphanet:279 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/413"}
xref: SCTID:267718000 {source="EFO:0001365", source="MONDO:equivalentTo", source="DOID:10871"}
xref: UMLS:C0242383 {source="NCIT:C84391", source="MONDO:equivalentTo", source="DOID:10871"}
is_a: MONDO:0002175 {source="DOID:10871"} ! degeneration of macula and posterior pole
property_value: closeMatch http://identifiers.org/snomedct/155112007
property_value: closeMatch http://identifiers.org/snomedct/18222007
property_value: closeMatch http://identifiers.org/snomedct/193384000
property_value: closeMatch http://identifiers.org/snomedct/193385004
property_value: closeMatch http://identifiers.org/snomedct/302891003
property_value: exactMatch DOID:10871
property_value: exactMatch http://identifiers.org/snomedct/267718000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242383
property_value: exactMatch NCIT:C25416
property_value: exactMatch NCIT:C84391
property_value: exactMatch Orphanet:279

[Term]
id: MONDO:0005151
name: endocrine system disease
def: "A disease involving the endocrine system." [MONDO:DesignPattern]
synonym: "disease of endocrine system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocrine system" EXACT []
synonym: "disorder of endocrine system" EXACT [MONDO:patterns/location_top, NCIT:C3009]
synonym: "disorder of endocrine system" RELATED [MONDO:patterns/location_top]
synonym: "endocrine disease" EXACT [DOID:28, NCIT:C3009]
synonym: "endocrine disorder" EXACT [NCIT:C3009]
synonym: "endocrine system disease" EXACT [MONDO:patterns/location]
synonym: "endocrine system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine system disorder" EXACT [NCIT:C3009]
synonym: "endocrinopathy" EXACT [NCIT:C3009]
synonym: "thyroid or other glandular disorders" EXACT [NCIT:C3009]
xref: DOID:28 {source="EFO:0001379", source="MONDO:equivalentTo"}
xref: EFO:0001379 {source="MONDO:equivalentTo"}
xref: ICD10:E34.9 {source="DOID:28"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:259.9 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28", source="i2s"}
xref: MESH:D004700 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28", source="MONDO:ontobio"}
xref: NCIT:C3009 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"}
xref: SCTID:362969004 {source="EFO:0001379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.38", source="DOID:28"}
xref: UMLS:C0014130 {source="MONDO:equivalentTo", source="DOID:28", source="NCIT:C3009"}
is_a: MONDO:0021199 {source="DOID:28", source="MONDO:Entailed", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: closeMatch http://identifiers.org/snomedct/118639003
property_value: closeMatch http://identifiers.org/snomedct/127345001
property_value: closeMatch http://identifiers.org/snomedct/154648001
property_value: closeMatch http://identifiers.org/snomedct/154690007
property_value: closeMatch http://identifiers.org/snomedct/154718007
property_value: closeMatch http://identifiers.org/snomedct/190231001
property_value: closeMatch http://identifiers.org/snomedct/190594008
property_value: closeMatch http://identifiers.org/snomedct/267462005
property_value: closeMatch http://identifiers.org/snomedct/267475005
property_value: closeMatch http://identifiers.org/snomedct/267489000
property_value: closeMatch http://identifiers.org/snomedct/67432001
property_value: closeMatch http://identifiers.org/snomedct/84452004
property_value: exactMatch DOID:28
property_value: exactMatch http://identifiers.org/mesh/D004700
property_value: exactMatch http://identifiers.org/snomedct/362969004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014130
property_value: exactMatch NCIT:C3009

[Term]
id: MONDO:0005152
name: hypopituitarism
def: "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." [NCIT:C62591]
subset: gard_rare {source="GARD:0002917"}
synonym: "pituitary hormone deficiency" EXACT [DOID:9406]
synonym: "pituitary hypofunction" RELATED [DOID:9406]
synonym: "pituitary insufficiency" EXACT [DOID:9406, MTHICD9_2006:253.2]
xref: COHD:4254542 {source="MONDO:equivalentTo"}
xref: DOID:9406 {source="MONDO:equivalentTo", source="EFO:0001380"}
xref: EFO:0001380 {source="MONDO:equivalentTo"}
xref: GARD:0002917 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:9406", source="MONDO:equivalentTo"}
xref: MESH:D007018 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"}
xref: NCIT:C62591 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380", source="exact-label-match"}
xref: SCTID:74728003 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"}
xref: UMLS:C0020635 {source="MEDGEN:kboom-pr98-c99", source="DOID:9406", source="MONDO:equivalentTo", source="NCIT:C62591"}
is_a: MONDO:0003381 {source="DOID:9406", source="MESH:D007018", source="linkedlifedata"} ! pituitary gland disease
property_value: closeMatch http://identifiers.org/snomedct/154703006
property_value: closeMatch http://identifiers.org/snomedct/190469009
property_value: closeMatch http://identifiers.org/snomedct/237681002
property_value: closeMatch http://identifiers.org/snomedct/267482009
property_value: exactMatch DOID:9406
property_value: exactMatch http://identifiers.org/mesh/D007018
property_value: exactMatch http://identifiers.org/snomedct/74728003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020635
property_value: exactMatch NCIT:C62591
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism xsd:anyURI {source="GARD:0002917"}

[Term]
id: MONDO:0005153
name: cervical adenocarcinoma
def: "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." [NCIT:C4029]
synonym: "adenocarcinoma - cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma cervix uteri" EXACT [DOID:3702]
synonym: "adenocarcinoma of cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of cervix uteri" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the cervix uteri" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the uterine cervix" EXACT [DOID:3702, NCIT:C4029]
synonym: "adenocarcinoma of uterine cervix" EXACT [NCIT:C4029]
synonym: "cervical adenocarcinoma" EXACT [NCIT:C4029]
synonym: "cervical adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C4029]
synonym: "cervical adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4029]
synonym: "cervix adenocarcinoma" EXACT [NCIT:C4029]
synonym: "cervix uteri adenocarcinoma" EXACT [NCIT:C4029]
synonym: "uterine cervix adenocarcinoma" EXACT [NCIT:C4029]
xref: DOID:3702 {source="MONDO:equivalentTo", source="EFO:0001416"}
xref: EFO:0001416 {source="MONDO:equivalentTo"}
xref: NCIT:C4029 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"}
xref: ONCOTREE:CEAD {source="MONDO:equivalentTo"}
xref: SCTID:254887002 {source="MONDO:kboom-pr-0.90/0.76/0.50", source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"}
is_a: MONDO:0016275 ! adenocarcinoma of cervix uteri
property_value: closeMatch http://identifiers.org/mesh/D002583
property_value: closeMatch http://identifiers.org/snomedct/154522004
property_value: closeMatch http://identifiers.org/snomedct/269596006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279672
property_value: exactMatch DOID:3702
property_value: exactMatch http://identifiers.org/snomedct/254887002
property_value: exactMatch NCIT:C4029

[Term]
id: MONDO:0005154
name: liver disease
def: "A disease involving the liver." [MONDO:DesignPattern]
synonym: "disease of liver" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of liver" EXACT []
synonym: "disorder of liver" EXACT [MONDO:patterns/location_top]
synonym: "disorder of liver" RELATED [MONDO:patterns/location_top]
synonym: "hepatic disease" EXACT [DOID:409]
synonym: "hepatic disorder" EXACT [DOID:409, NCIT:C3196]
synonym: "liver and intrahepatic bile duct disorder" EXACT [NCIT:C3196]
synonym: "liver disease" EXACT [MONDO:patterns/location]
synonym: "liver disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver disorder" EXACT [NCIT:C3196]
xref: COHD:194984 {source="MONDO:equivalentTo"}
xref: DOID:409 {source="EFO:0001421", source="MONDO:equivalentTo"}
xref: EFO:0001421 {source="MONDO:equivalentTo"}
xref: ICD10:K70-K77 {source="DOID:409"}
xref: ICD10:K76.9 {source="DOID:409"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:573.9 {source="EFO:0001421", source="MONDO:equivalentTo", source="i2s", source="DOID:409"}
xref: MESH:D008107 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409", source="MONDO:ontobio"}
xref: NCIT:C3196 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"}
xref: SCTID:235856003 {source="EFO:0001421", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.38", source="DOID:409"}
xref: UMLS:C0023895 {source="MONDO:equivalentTo", source="DOID:409"}
is_a: MONDO:0002515 {source="DOID:409", source="MONDO:Redundant", source="NCIT:C3196"} ! hepatobiliary disease
is_a: MONDO:0005151 ! endocrine system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/15230009
property_value: closeMatch http://identifiers.org/snomedct/155807008
property_value: closeMatch http://identifiers.org/snomedct/155817003
property_value: closeMatch http://identifiers.org/snomedct/155822003
property_value: closeMatch http://identifiers.org/snomedct/197375001
property_value: closeMatch http://identifiers.org/snomedct/197551000
property_value: closeMatch http://identifiers.org/snomedct/199117000
property_value: closeMatch http://identifiers.org/snomedct/266535008
property_value: closeMatch http://identifiers.org/snomedct/62857009
property_value: exactMatch DOID:409
property_value: exactMatch http://identifiers.org/mesh/D008107
property_value: exactMatch http://identifiers.org/snomedct/235856003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023895
property_value: exactMatch NCIT:C3196
property_value: exactMatch NCIT:C50634

[Term]
id: MONDO:0005155
name: cirrhosis of liver
def: "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." [NCIT:P378]
synonym: "cirrhosis" EXACT [DOID:5082]
synonym: "cirrhosis of liver" EXACT [DOID:5082]
synonym: "liver cirrhosis" RELATED [DOID:5082]
xref: DOID:5082 {source="MONDO:equivalentTo", source="EFO:0001422"}
xref: EFO:0001422 {source="MONDO:equivalentTo", source="DOID:5082"}
xref: ICD10:K74.60 {source="DOID:5082"}
xref: ICD9:571.5 {source="EFO:0001422"}
xref: MESH:D008103 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"}
xref: NCIT:C2951 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:19943007 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023890 {source="MONDO:equivalentTo", source="DOID:5082", source="NCIT:C2951"}
is_a: MONDO:0005154 {source="DOID:5082", source="EFO:0001422", source="EFO:0001422/inferred", source="MESH:D008103", source="NCIT:C2951/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease
property_value: closeMatch http://identifiers.org/snomedct/155809006
property_value: closeMatch http://identifiers.org/snomedct/197309008
property_value: closeMatch http://identifiers.org/snomedct/235891006
property_value: closeMatch http://identifiers.org/snomedct/266537000
property_value: exactMatch DOID:5082
property_value: exactMatch http://identifiers.org/mesh/D008103
property_value: exactMatch http://identifiers.org/snomedct/19943007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023890
property_value: exactMatch NCIT:C2951

[Term]
id: MONDO:0005156
name: encephalomyelitis
def: "Inflammation of the brain and the spinal cord." [NCIT:P378]
synonym: "central nervous system inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "encephalitis &/or myelitis" EXACT [DOID:640]
synonym: "encephalitis and/or myelitis" EXACT [DOID:640]
synonym: "inflammation of central nervous system" EXACT []
xref: DOID:640 {source="EFO:0001423", source="MONDO:equivalentTo"}
xref: EFO:0001423 {source="MONDO:equivalentTo"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004679 {source="EFO:0001423", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:640"}
xref: NCIT:C34580 {source="EFO:0001423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:640"}
xref: SCTID:62950007 {source="EFO:0001423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.01", source="DOID:640"}
xref: UMLS:C0014070 {source="NCIT:C34580", source="MONDO:equivalentTo", source="DOID:640"}
is_a: MONDO:0002602 {source="DOID:640", source="MESH:D004679", source="MESH:D004679/inferred", source="MONDO:Redundant", source="NCIT:C34580/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34580/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/154991009
property_value: closeMatch http://identifiers.org/snomedct/192682002
property_value: closeMatch http://identifiers.org/snomedct/192735003
property_value: closeMatch http://identifiers.org/snomedct/192736002
property_value: closeMatch http://identifiers.org/snomedct/230196000
property_value: closeMatch http://identifiers.org/snomedct/267682000
property_value: closeMatch http://identifiers.org/snomedct/267684004
property_value: closeMatch http://identifiers.org/snomedct/286936006
property_value: exactMatch DOID:640
property_value: exactMatch http://identifiers.org/mesh/D004679
property_value: exactMatch http://identifiers.org/snomedct/62950007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014070
property_value: exactMatch NCIT:C34580

[Term]
id: MONDO:0005157
name: lymphoid neoplasm
def: "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." [NCIT:C7065]
synonym: "lymphocytic and plasma cell neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic and plasma cell tumor" EXACT [NCIT:C7065]
synonym: "lymphocytic and plasma cell tumour" EXACT [NCIT:C7065]
synonym: "lymphocytic and plasmacytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic tumor" EXACT [NCIT:C7065]
synonym: "lymphoid and plasma cell tumor" EXACT [NCIT:C7065]
synonym: "lymphoid and plasma cell tumour" EXACT [NCIT:C7065]
synonym: "lymphoid and plasmacytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphoid and plasmacytic tumor" EXACT [NCIT:C7065]
synonym: "lymphoid and plasmacytic tumour" EXACT [NCIT:C7065]
synonym: "lymphoid neoplasm" EXACT [NCIT:C7065]
synonym: "lymphoid tumor" EXACT [NCIT:C7065]
xref: EFO:0001642 {source="MONDO:equivalentTo"}
xref: ICD9:200.7 {source="EFO:0001642"}
xref: NCIT:C7065 {source="MONDO:equivalentTo", source="EFO:0001642", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: ONCOTREE:LYMPH {source="MONDO:equivalentTo"}
xref: UMLS:C0598798 {source="NCIT:C7065", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044881 {source="NCIT:C7065"} ! hematopoietic and lymphoid cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/414628006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024202
property_value: closeMatch NCIT:C13252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598798
property_value: exactMatch NCIT:C7065

[Term]
id: MONDO:0005158
name: obsolete coronary heart disease
is_obsolete: true
replaced_by: MONDO:0005010

[Term]
id: MONDO:0005159
name: prostate carcinoma
def: "A carcinoma that arises from epithelial cells of the prostate gland." [MONDO:DesignPattern]
synonym: "cancer of prostate" NARROW [NCIT:C4863]
synonym: "cancer of the prostate" NARROW [NCIT:C4863]
synonym: "carcinoma of prostate" EXACT [NCIT:C4863]
synonym: "carcinoma of prostate gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the prostate" EXACT [NCIT:C4863]
synonym: "prostate cancer" NARROW [NCIT:C4863]
synonym: "prostate cancer, NOS" NARROW [NCIT:C4863]
synonym: "prostate carcinoma" EXACT [NCIT:C4863]
synonym: "prostate gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10286 {source="EFO:0001663", source="MONDO:equivalentTo"}
xref: EFO:0001663 {source="MONDO:equivalentTo", source="DOID:10286"}
xref: KEGG:05215 {source="MONDO:equivalentTo", source="DOID:10286"}
xref: NCIT:C4863 {source="EFO:0001663", source="MONDO:equivalentTo", source="DOID:10286"}
xref: UMLS:C0600139 {source="MONDO:equivalentTo", source="NCIT:C4863", source="DOID:10286"}
is_a: MONDO:0004993 {source="DOID:10286", source="EFO:0001663", source="MONDO:Redundant", source="MONDOLEX:0005159", source="NCIT:C4863", source="OWLReasoner:2017"} ! carcinoma
is_a: MONDO:0008315 {source="DOID:10286", source="MONDO:Redundant", source="MONDOLEX:0005159", source="NCIT:C4863"} ! prostate cancer
property_value: closeMatch http://identifiers.org/snomedct/154531004
property_value: closeMatch http://identifiers.org/snomedct/254900004
property_value: closeMatch http://identifiers.org/snomedct/363448003
property_value: exactMatch DOID:10286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600139
property_value: exactMatch NCIT:C4863

[Term]
id: MONDO:0005160
name: aortic aneurysm (disease)
def: "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378]
synonym: "abdominal aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM_2006:441.3]
synonym: "aortic aneurysm" EXACT [MONDO:ambiguous]
synonym: "aortic aneurysm of unspecified site, ruptured" EXACT [DOID:3627, ICD9CM_2006:441.5]
synonym: "ruptured abdominal aortic aneurysm" EXACT [DOID:3627, NCIT:C27046]
synonym: "ruptured aortic aneurysm" EXACT [DOID:3627, NCIT:C27198]
synonym: "ruptured aortic aneurysm NOS" RELATED EXCLUDE [DOID:3627]
synonym: "ruptured thoracic aneurysm" EXACT [DOID:3627, NCIT:C27299]
synonym: "ruptured thoracic aortic aneurysm" EXACT [DOID:3627]
synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [DOID:3627]
synonym: "thoracic aortic aneurysm which HAS ruptured" EXACT [DOID:3627]
synonym: "thoracic aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM_2006:441.1]
synonym: "thoracoabdominal aortic aneurysm, ruptured" EXACT [DOID:3627]
xref: DOID:3627 {source="MONDO:equivalentTo", source="EFO:0001666"}
xref: EFO:0001666 {source="MONDO:equivalentTo"}
xref: HP:0004942 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I71.1 {source="DOID:3627"}
xref: ICD10:I71.3 {source="DOID:3627"}
xref: ICD10:I71.5 {source="DOID:3627"}
xref: ICD10:I71.8 {source="DOID:3627"}
xref: ICD10:I71.9 {source="DOID:3627"}
xref: ICD9:441.1 {source="DOID:3627"}
xref: ICD9:441.3 {source="DOID:3627"}
xref: ICD9:441.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:3627"}
xref: ICD9:441.6 {source="DOID:3627"}
xref: MP:0006278 {source="EFO:0001666"}
xref: SCTID:73067008 {source="MONDO:equivalentTo", source="DOID:3627", source="MONDO:kboom-pr-0.77/0.47/0.37"}
xref: UMLS:C0003486 {source="MONDO:equivalentTo", source="DOID:3627", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0265010 {source="MONDO:equivalentTo", source="DOID:3627", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0265012 {source="MONDO:equivalentTo", source="DOID:3627", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0741160 {source="MONDO:equivalentTo", source="DOID:3627", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C1305122 {source="MONDO:equivalentTo", source="DOID:3627", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005561 {source="DOID:3627", source="linkedlifedata", source="linkedlifedata/inferred"} ! aortic disease
property_value: closeMatch http://identifiers.org/mesh/D001014
property_value: closeMatch http://identifiers.org/mesh/D001019
property_value: closeMatch http://identifiers.org/snomedct/14336007
property_value: closeMatch http://identifiers.org/snomedct/155419006
property_value: closeMatch http://identifiers.org/snomedct/155423003
property_value: closeMatch http://identifiers.org/snomedct/155424009
property_value: closeMatch http://identifiers.org/snomedct/195258006
property_value: closeMatch http://identifiers.org/snomedct/195264004
property_value: closeMatch http://identifiers.org/snomedct/195265003
property_value: closeMatch http://identifiers.org/snomedct/195269009
property_value: closeMatch http://identifiers.org/snomedct/195615002
property_value: closeMatch http://identifiers.org/snomedct/34365005
property_value: closeMatch http://identifiers.org/snomedct/67362008
property_value: exactMatch DOID:3627
property_value: exactMatch http://identifiers.org/snomedct/73067008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0741160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305122
property_value: exactMatch NCIT:C26697
property_value: exactMatch NCIT:C27046
property_value: exactMatch NCIT:C27198
property_value: exactMatch NCIT:C27299

[Term]
id: MONDO:0005161
name: human papilloma virus infection
def: "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." [NCIT:P378]
synonym: "Human papilloma Virus infection" EXACT [NCIT:C27851]
synonym: "Human papillomavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human papillomavirus disease or disorder" EXACT []
synonym: "Human Papillomavirus infection" EXACT [NCIT:C27851]
synonym: "Human papillomavirus infectious disease" EXACT []
xref: COHD:441788 {source="MONDO:equivalentTo"}
xref: EFO:0001668 {source="MONDO:equivalentTo"}
xref: ICD9:079.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27851 {source="MONDO:equivalentTo", source="EFO:0001668", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:240532009 {source="MONDO:equivalentTo", source="EFO:0001668", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343641 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27851", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0001668", source="MONDO:Redundant", source="MONDOLEX:0005161", source="NCIT:C27851", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: exactMatch http://identifiers.org/snomedct/240532009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343641
property_value: exactMatch NCIT:C27851

[Term]
id: MONDO:0005162
name: obsolete influenza infection
is_obsolete: true
replaced_by: MONDO:0005812

[Term]
id: MONDO:0005163
name: simian immunodeficiency virus infection
def: "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." [EFO:0001675]
synonym: "Simian immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simian immunodeficiency virus disease or disorder" EXACT []
synonym: "Simian immunodeficiency virus infectious disease" EXACT []
xref: EFO:0001675 {source="MONDO:equivalentTo"}
is_a: MONDO:0022034 ! lentivirus infection

[Term]
id: MONDO:0005164
name: fibrosarcoma (disease)
def: "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." [NCIT:C3043]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2030"}
synonym: "fibrocytic tumor" EXACT [DOID:3355, NCIT:C7075]
synonym: "fibrosarcoma" EXACT [MONDO:ambiguous, NCIT:C3043]
synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [NCIT:C3043]
synonym: "fibrosarcoma - not infantile" EXACT [NCIT:C3043]
synonym: "fibrosarcoma of soft tissue" EXACT [DOID:3355]
synonym: "fibrosarcoma, malignant" EXACT [NCIT:C3043]
synonym: "fibrous tissue neoplasm" EXACT [DOID:3355]
synonym: "malignant fibromatous neoplasm" EXACT [NCIT:C3043]
xref: DOID:3355 {source="EFO:0002087", source="MONDO:equivalentTo"}
xref: EFO:0002087 {source="MONDO:equivalentTo"}
xref: GARD:0002327 {source="MONDO:equivalentTo"}
xref: HP:0100244 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="Orphanet:2030", source="ORDO:2030/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8810/3 {source="NCIT:C3043"}
xref: MedDRA:10016632 {source="Orphanet:2030", source="ORDO:2030/e"}
xref: NCIT:C3043 {source="EFO:0002087", source="DOID:3355", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.51/0.17"}
xref: ONCOTREE:FIBS {source="MONDO:equivalentTo"}
xref: Orphanet:2030 {source="MONDO:equivalentTo"}
xref: SCTID:443250000 {source="DOID:3355", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.09"}
xref: UMLS:C0016057 {source="DOID:3355", source="NCIT:C3043", source="GARD:0002327", source="MONDO:equivalentTo", source="Orphanet:2030", source="ORDO:2030/e"}
is_a: MONDO:0002176 ! connective tissue cancer
is_a: MONDO:0006209 {source="NCIT:C3043"} ! fibroblastic neoplasm
is_a: MONDO:0018078 {source="MONDOLEX:0005164", source="Orphanet:2030"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:2030"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/mesh/D018218
property_value: closeMatch http://identifiers.org/snomedct/53654007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206643
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336021
property_value: closeMatch NCIT:C6605
property_value: exactMatch DOID:3355
property_value: exactMatch http://identifiers.org/meddra/10016632
property_value: exactMatch http://identifiers.org/mesh/D005354
property_value: exactMatch http://identifiers.org/snomedct/443250000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016057
property_value: exactMatch NCIT:C3043
property_value: exactMatch Orphanet:2030

[Term]
id: MONDO:0005165
name: benign neoplasm
def: "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." [NCIT:C3677]
comment: Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14
synonym: "benign neoplasm" EXACT [NCIT:C3677]
synonym: "benign neoplasm (disease)" EXACT []
synonym: "benign tumor" RELATED [NCIT:C3677]
synonym: "benign unclassifiable tumor" RELATED [NCIT:C3677]
synonym: "cell type benign neoplasm" RELATED [DOID:0060084]
synonym: "neoplasm (disease), benign" EXACT [MONDO:patterns/benign]
synonym: "neoplasm, benign" RELATED [NCIT:C3677]
synonym: "organ system benign neoplasm" RELATED [DOID:0060085]
xref: DOID:0060072 {source="EFO:0002422", source="MONDO:equivalentTo"}
xref: DOID:0060084 {source="MONDO:equivalentTo"}
xref: DOID:0060085 {source="MONDO:equivalentTo"}
xref: EFO:0002422 {source="MONDO:equivalentTo"}
xref: ICD10:D10.D36 {source="MONDO:equivalentTo"}
xref: ICD9:210-229.99 {source="EFO:0002422"}
xref: ICD9:229.8 {source="i2s"}
xref: ICD9:229.9 {source="i2s"}
xref: ICDO:8000/0 {source="NCIT:C3677"}
xref: NCIT:C3677 {source="EFO:0002422", source="MONDO:equivalentTo"}
xref: SCTID:20376005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="DOID:0060072", source="DOID:0060084/inferred", source="DOID:0060085/inferred", source="EFO:0002422", source="ICD10:D10.D36", source="MONDO:Redundant", source="MONDOLEX:0005165", source="NCIT:C3677/inferred", source="linkedlifedata"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/3898006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086692
property_value: exactMatch DOID:0060072
property_value: exactMatch DOID:0060084
property_value: exactMatch DOID:0060085
property_value: exactMatch http://identifiers.org/snomedct/20376005
property_value: exactMatch NCIT:C3677

[Term]
id: MONDO:0005166
name: osteoma (disease)
def: "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." [NCIT:P378]
synonym: "osteoma" EXACT [MONDO:ambiguous, NCIT:C3296]
synonym: "osteoma, benign" EXACT [NCIT:C3296]
xref: EFO:0002423 {source="MONDO:equivalentTo"}
xref: HP:0100246 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9180/0 {source="NCIT:C3296"}
xref: MESH:D010016 {source="MONDO:equivalentTo", source="EFO:0002423", source="MONDO:ontobio"}
xref: NCIT:C3296 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0002423"}
xref: SCTID:302858007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0002423"}
xref: UMLS:C0029440 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3296", source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="NCIT:C3296", source="linkedlifedata"} ! bone benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/83612000
property_value: exactMatch http://identifiers.org/mesh/D010016
property_value: exactMatch http://identifiers.org/snomedct/302858007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029440
property_value: exactMatch NCIT:C3296

[Term]
id: MONDO:0005167
name: fibroma
def: "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:C3041]
synonym: "fibroma" EXACT [NCIT:C3041]
synonym: "fibroma, benign" EXACT [NCIT:C3041]
xref: DOID:0050871 {source="EFO:0002424", source="MONDO:equivalentTo"}
xref: EFO:0002424 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8810/0 {source="NCIT:C3041"}
xref: MESH:D005350 {source="EFO:0002424", source="MONDO:equivalentTo"}
xref: NCIT:C3041 {source="EFO:0002424", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:424568000 {source="EFO:0002424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0006209 {source="NCIT:C3041"} ! fibroblastic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/112682009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016045
property_value: exactMatch DOID:0050871
property_value: exactMatch http://identifiers.org/mesh/D005350
property_value: exactMatch http://identifiers.org/snomedct/424568000
property_value: exactMatch NCIT:C3041

[Term]
id: MONDO:0005168
name: neoplasm of immature B and T cells
def: "a neoplasm arising from immature B and T cells" [EFO:0002425]
xref: EFO:0002425 {source="MONDO:equivalentTo"}
is_a: MONDO:0005157 {source="EFO:0002425"} ! lymphoid neoplasm

[Term]
id: MONDO:0005169
name: neoplasm of mature T-cells or NK-cells
def: "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." [NCIT:C27909]
synonym: "mature T and NK neoplasms" EXACT []
synonym: "mature T-cell and NK-cell neoplasm" EXACT [NCIT:C27909]
synonym: "mature T-cell neoplasm" EXACT [NCIT:C27909]
xref: EFO:0002426 {source="MONDO:equivalentTo"}
xref: NCIT:C27909 {source="MONDO:equivalentTo", source="EFO:0002426"}
xref: ONCOTREE:MTNN {source="MONDO:equivalentTo"}
xref: UMLS:C1334640 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27909", source="MONDO:equivalentTo"}
is_a: MONDO:0024615 {source="NCIT:C27909"} ! T-cell and NK-cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334640
property_value: exactMatch NCIT:C27909

[Term]
id: MONDO:0005170
name: myeloid neoplasm
def: "Proliferation of myeloid cells originating from a primitive stem cell." [NCIT:C9290]
synonym: "myeloid malignancy" EXACT [NCIT:C9290]
synonym: "myeloid neoplasm" EXACT [NCIT:C9290]
synonym: "myeloid tumor" EXACT [NCIT:C9290]
synonym: "myeloma" EXACT EXCLUDE [DOID:0070004]
xref: DOID:0070004 {source="MONDO:equivalentTo"}
xref: EFO:0002427 {source="MONDO:equivalentTo"}
xref: ICDO:9975/1 {source="NCIT:C9290"}
xref: NCIT:C9290 {source="MONDO:equivalentTo", source="EFO:0002427"}
xref: ONCOTREE:MYELOID {source="MONDO:equivalentTo"}
xref: UMLS:C2939461 {source="MONDO:equivalentTo", source="NCIT:C9290"}
is_a: MONDO:0044881 {source="NCIT:C9290"} ! hematopoietic and lymphoid cell neoplasm
relationship: excluded_subClassOf MONDO:0005157 {source="EFO:0002427"} ! lymphoid neoplasm
property_value: closeMatch http://identifiers.org/snomedct/414792005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005767
property_value: closeMatch NCIT:C12434
property_value: exactMatch DOID:0070004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939461
property_value: exactMatch NCIT:C9290

[Term]
id: MONDO:0005171
name: obsolete chronic myeloproliferative disorder
def: "Chronic form of myeloproliferative neoplasm." [MONDO:patterns/chronic]
is_obsolete: true
replaced_by: MONDO:0020076

[Term]
id: MONDO:0005172
name: skeletal system disease
def: "A disease involving the skeletal system." [MONDO:DesignPattern]
synonym: "disease of bone and/or joint" RELATED []
synonym: "disease of skeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal system" EXACT []
synonym: "disorder of skeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of skeletal system" RELATED [MONDO:patterns/location_top]
synonym: "osteoarthropathy" RELATED []
synonym: "skeletal system disease" EXACT [MONDO:patterns/location]
synonym: "skeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0002461 {source="MONDO:equivalentTo"}
xref: SCTID:88230002 {source="MONDO:equivalentTo"}
xref: UMLS:C0263661 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="MONDO:Redundant", source="linkedlifedata"} ! musculoskeletal system disease
property_value: exactMatch http://identifiers.org/snomedct/88230002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263661

[Term]
id: MONDO:0005173
name: actinic keratosis (disease)
def: "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." [NCIT:P378]
synonym: "actinic (solar) keratosis" EXACT [DOID:8866, NCIT:C3148]
synonym: "actinic keratosis" EXACT [MONDO:ambiguous]
synonym: "Senile hyperkeratosis" EXACT [DOID:8866]
synonym: "Senile keratosis" EXACT [NCIT:C3148]
synonym: "senile keratosis" EXACT [NCIT:C3148]
synonym: "SK - solar keratosis" EXACT [DOID:8866]
synonym: "solar keratosis" EXACT [DOID:8866]
xref: DOID:8866 {source="EFO:0002496", source="MONDO:equivalentTo"}
xref: EFO:0002496 {source="MONDO:equivalentTo"}
xref: HP:0025127 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L57.0 {source="DOID:8866", source="MONDO:equivalentTo"}
xref: ICD9:702.0 {source="DOID:8866", source="EFO:0002496"}
xref: ICD9:702.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D055623 {source="DOID:8866", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3148 {source="DOID:8866", source="EFO:0002496", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:398838000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0022602 {source="DOID:8866", source="MONDO:equivalentTo", source="NCIT:C3148"}
xref: UMLS:C4282032 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000611 {source="DOID:8866"} ! pre-malignant neoplasm
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C3148/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm
property_value: closeMatch http://identifiers.org/snomedct/156395005
property_value: closeMatch http://identifiers.org/snomedct/156398007
property_value: closeMatch http://identifiers.org/snomedct/156400006
property_value: closeMatch http://identifiers.org/snomedct/201096007
property_value: closeMatch http://identifiers.org/snomedct/201097003
property_value: closeMatch http://identifiers.org/snomedct/201098008
property_value: closeMatch http://identifiers.org/snomedct/201101007
property_value: closeMatch http://identifiers.org/snomedct/201106002
property_value: closeMatch http://identifiers.org/snomedct/201107006
property_value: closeMatch http://identifiers.org/snomedct/267858008
property_value: closeMatch http://identifiers.org/snomedct/267860005
property_value: closeMatch http://identifiers.org/snomedct/856006
property_value: exactMatch DOID:8866
property_value: exactMatch http://identifiers.org/mesh/D055623
property_value: exactMatch http://identifiers.org/snomedct/398838000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4282032
property_value: exactMatch NCIT:C3148

[Term]
id: MONDO:0005174
name: acute hypotension
def: "Acute form of hypotension (disease)." [MONDO:patterns/acute]
synonym: "acute hypotension (disease)" EXACT []
synonym: "hypotension (disease), acute" EXACT [MONDO:patterns/acute]
xref: EFO:0002497 {source="MONDO:equivalentTo"}
is_a: MONDO:0005468 {source="EFO:0002497", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypotensive disorder
is_a: MONDO:0020683 ! acute disease

[Term]
id: MONDO:0005175
name: aggressive insulitis
def: "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." [EFO:0002498]
xref: EFO:0002498 {source="MONDO:equivalentTo"}
is_a: MONDO:0001933 ! endocrine pancreas disease
is_a: MONDO:0005046 {source="EFO:0002498"} ! immune system disease

[Term]
id: MONDO:0005176
name: benign insulitis
def: "a benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." [EFO:0002502]
comment: Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. {source="EFO:0002502"}
xref: EFO:0002502 {source="MONDO:equivalentTo"}
xref: PMID:20545565 {source="EFO:0002502"}
xref: Wikipedia:Insulitis {source="EFO:0002502"}
is_a: MONDO:0001933 ! endocrine pancreas disease
is_a: MONDO:0005046 {source="EFO:0002502"} ! immune system disease

[Term]
id: MONDO:0005177
name: serous cystadenoma
def: "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." [NCIT:C3783]
synonym: "serous cystadenoma" EXACT [NCIT:C3783]
synonym: "serous cystoma" EXACT [NCIT:C3783]
xref: EFO:0002504 {source="MONDO:equivalentTo"}
xref: ICDO:8441/0 {source="NCIT:C3783"}
xref: NCIT:C3783 {source="MONDO:equivalentTo", source="EFO:0002504"}
is_a: MONDO:0002369 {source="MONDOLEX:0005177", source="NCIT:C3783"} ! cystadenoma
property_value: closeMatch http://identifiers.org/snomedct/51608009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206709
property_value: exactMatch NCIT:C3783

[Term]
id: MONDO:0005178
name: osteoarthritis
def: "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." [NCIT:C3293]
synonym: "degenerative arthritis" EXACT [DOID:8398]
synonym: "degenerative joint disease" EXACT [DOID:8398]
synonym: "hypertrophic arthritis" EXACT [DOID:8398]
synonym: "osteoarthrosis" EXACT [DOID:8398]
synonym: "osteoarthrosis and allied disorder" EXACT [DOID:8398]
xref: COHD:80180 {source="MONDO:equivalentTo"}
xref: DOID:8398 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: EFO:0002506 {source="MONDO:equivalentTo", source="DOID:8398"}
xref: GARD:0011929 {source="MONDO:equivalentTo"}
xref: HP:0002758 {source="MONDO:otherHierarchy", source="EFO:0002506"}
xref: ICD10:M19 {source="MONDO:equivalentTo"}
xref: ICD9:715.3 {source="DOID:8398"}
xref: MESH:D010003 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: NCIT:C3293 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.89/21.61", source="EFO:0002506"}
is_a: MONDO:0005578 {source="DOID:8398", source="EFO:0002506", source="MESH:D010003", source="MONDO:Redundant", source="MONDOLEX:0005178", source="NCIT:C3293"} ! arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157946
property_value: exactMatch DOID:8398
property_value: exactMatch http://identifiers.org/mesh/D010003
property_value: exactMatch NCIT:C3293

[Term]
id: MONDO:0005179
name: ovarian adenoma benign
def: "A benign adenoma of ovary" [EFO:0002507]
xref: EFO:0002507 {source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="EFO:0002507"} ! adenoma

[Term]
id: MONDO:0005180
name: Parkinson disease
def: "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." [NCIT:P378]
synonym: "paralysis agitans" EXACT [CSP2005:2057-3689, DOID:14330]
synonym: "Parkinson's disease" EXACT [DOID:14330]
xref: COHD:381270 {source="MONDO:equivalentTo"}
xref: DOID:14330 {source="MONDO:equivalentTo", source="EFO:0002508"}
xref: EFO:0002508 {source="MONDO:equivalentTo", source="DOID:14330"}
xref: ICD10:G20 {source="DOID:14330"}
xref: ICD9:332 {source="DOID:14330", source="EFO:0002508"}
xref: ICD9:332.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:14330"}
xref: KEGG:05012 {source="MONDO:equivalentTo", source="DOID:14330"}
xref: MESH:D010300 {source="MONDO:equivalentTo", source="DOID:14330", source="MONDO:ontobio", source="EFO:0002508"}
xref: NCIT:C26845 {source="MONDO:equivalentTo", source="DOID:14330", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0002508"}
xref: NIFSTD:birnlex_2098 {source="EFO:0002508"}
xref: OMIMPS:168600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:49049000 {source="MONDO:equivalentTo", source="DOID:14330", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0002508"}
xref: UMLS:C0030567 {source="MONDO:equivalentTo", source="DOID:14330", source="NCIT:C26845"}
is_a: MONDO:0000510 {source="DOID:14330"} ! synucleinopathy
is_a: MONDO:0021095 {source="MESH:D010300"} ! parkinsonian disorder
property_value: closeMatch http://identifiers.org/snomedct/154999006
property_value: closeMatch http://identifiers.org/snomedct/155000006
property_value: closeMatch http://identifiers.org/snomedct/155002003
property_value: closeMatch http://identifiers.org/snomedct/192825001
property_value: closeMatch http://identifiers.org/snomedct/192831003
property_value: exactMatch DOID:14330
property_value: exactMatch http://identifiers.org/mesh/D010300
property_value: exactMatch http://identifiers.org/snomedct/49049000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030567
property_value: exactMatch NCIT:C26845

[Term]
id: MONDO:0005181
name: progressive external ophthalmoplegia
def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246]
subset: ordo_group_of_disorders
synonym: "chronic progressive external ophthalmoplegia" RELATED [DOID:12558]
synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [DOID:12558]
synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD9CM_2006:378.72]
xref: COHD:379027 {source="MONDO:equivalentTo"}
xref: DOID:12558 {source="MONDO:equivalentTo", source="EFO:0002509"}
xref: EFO:0002509 {source="MONDO:equivalentTo"}
xref: GARD:0004503 {source="MONDO:equivalentTo"}
xref: HP:0000590 {source="MONDO:otherHierarchy", source="EFO:0002509"}
xref: ICD10:H49.4 {source="DOID:12558", source="MONDO:equivalentTo"}
xref: ICD9:378.72 {source="DOID:12558", source="EFO:0002509"}
xref: MESH:D017246 {source="DOID:12558", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:520820 {source="MONDO:equivalentTo"}
xref: SCTID:46252003 {source="DOID:12558", source="MONDO:equivalentTo", source="EFO:0002509"}
is_a: MONDO:0009637 {source="DOID:12558", source="MESH:D017246"} ! inborn mitochondrial myopathy
property_value: closeMatch http://identifiers.org/snomedct/194034008
property_value: closeMatch http://identifiers.org/snomedct/194126004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162674
property_value: exactMatch DOID:12558
property_value: exactMatch http://identifiers.org/mesh/D017246
property_value: exactMatch http://identifiers.org/snomedct/46252003
property_value: exactMatch Orphanet:520820

[Term]
id: MONDO:0005182
name: serous cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." [PMID:16025006]
xref: EFO:0002510 {source="MONDO:equivalentTo"}
is_a: MONDO:0005167 {source="EFO:0002510"} ! fibroma

[Term]
id: MONDO:0005183
name: ovarian cystadenoma
def: "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." [NCIT:C4060]
synonym: "benign cystadenoma of ovary" EXACT [NCIT:C4060]
synonym: "benign cystadenoma of the ovary" EXACT [NCIT:C4060]
synonym: "benign ovarian cystadenoma" EXACT [NCIT:C4060]
synonym: "cystadenoma of ovary" EXACT [NCIT:C4060]
synonym: "cystadenoma of the ovary" EXACT [NCIT:C4060]
synonym: "cystoma serosum simplex" EXACT [DOID:3269, NCIT:C4060]
synonym: "ovarian cystadenoma" EXACT [NCIT:C4060]
synonym: "ovary cystadenoma" EXACT [MONDO:patterns/location]
synonym: "simple cystoma of ovary" EXACT [DOID:3269, MTHICD9_2006:620.2, NCIT:C4060]
synonym: "simple cystoma of the ovary" EXACT [NCIT:C4060]
synonym: "simple ovarian cystoma" EXACT [NCIT:C4060]
xref: DOID:3269 {source="MONDO:equivalentTo", source="EFO:0002511"}
xref: EFO:0002511 {source="MONDO:equivalentTo"}
xref: ICD9:620.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4060 {source="DesignPattern", source="DOID:3269", source="MONDO:equivalentTo", source="EFO:0002511", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:198297004 {source="DOID:3269", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346169 {source="DOID:3269", source="MONDO:equivalentTo", source="NCIT:C4060"}
is_a: MONDO:0000646 {source="DOID:3269", source="NCIT:C4060/inferred", source="linkedlifedata/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C4060/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! ovarian epithelial tumor
is_a: MONDO:0002369 {source="MONDO:Redundant", source="MONDOLEX:0005183", source="NCIT:C4060"} ! cystadenoma
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch DOID:3269
property_value: exactMatch http://identifiers.org/snomedct/198297004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346169
property_value: exactMatch NCIT:C4060

[Term]
id: MONDO:0005184
name: pancreatic ductal adenocarcinoma
def: "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." [NCIT:C9120]
synonym: "ductal adenocarcinoma of pancreas" EXACT [NCIT:C9120]
synonym: "ductal adenocarcinoma of the pancreas" EXACT [DOID:3498, NCIT:C9120]
synonym: "malignant neoplasm of duct of Wirsung" EXACT [DOID:3587, MTHICD9_2006:157.3]
synonym: "pancreas ductal adenocarcinoma" EXACT [NCIT:C9120]
synonym: "pancreatic duct adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic duct cancer" EXACT [DOID:3587]
synonym: "pancreatic ductal adenocarcinoma" EXACT [NCIT:C9120]
synonym: "pancreatic ductal carcinoma" EXACT [MONDO:0002699]
synonym: "pancreatic infiltrating duct carcinoma, NOS" RELATED EXCLUDE [NCIT:C9120]
synonym: "pancreatic infiltrating duct carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C9120]
synonym: "pancreatic tubular adenocarcinoma" EXACT [NCIT:C9120]
xref: DOID:3498 {source="MONDO:equivalentTo", source="EFO:0002517"}
xref: DOID:3587 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0002517"}
xref: EFO:0002517 {source="MONDO:equivalentTo"}
xref: ICD10:C25.3 {source="DOID:3587"}
xref: ICD9:157.3 {source="DOID:3587"}
xref: MESH:D021441 {source="DOID:3587", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9120 {source="DOID:3498", source="MONDO:equivalentTo", source="EFO:0002517"}
xref: UMLS:C0887833 {source="MEDGEN:kboom-pr98-c99", source="DOID:3587", source="MONDO:equivalentTo"}
xref: UMLS:C1335302 {source="DOID:3498", source="MONDO:equivalentTo", source="NCIT:C9120"}
is_a: MONDO:0006047 {source="DOID:3498", source="MONDO:Redundant", source="MONDOLEX:0005184", source="NCIT:C9120"} ! pancreatic adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/187793004
property_value: closeMatch http://identifiers.org/snomedct/93939009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153461
property_value: exactMatch DOID:3498
property_value: exactMatch DOID:3587
property_value: exactMatch http://identifiers.org/mesh/D021441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0887833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335302
property_value: exactMatch NCIT:C9120

[Term]
id: MONDO:0005185
name: chronic childhood arthritis
def: "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." [NCIT:C27179]
comment: This class is scheduled for obsoletion
synonym: "JRA" EXACT [NCIT:C27179]
synonym: "Juvenile rheumatoid arthritis" EXACT [NCIT:C27179]
synonym: "Juvenile rheumatoid arthritis" RELATED [NCIT:C27179]
synonym: "Juvenile rheumatoid arthritis (AQ)" EXACT [NCIT:C27179]
xref: EFO:0002609 {source="MONDO:equivalentTo"}
xref: NCIT:C27179 {source="EFO:0002609", source="MONDO:equivalentTo"}
xref: SCTID:410793008 {source="MONDO:equivalentTo"}
xref: Wikipedia:Juvenile_idiopathic_arthritis {source="EFO:0002609"}
is_a: MONDO:0008383 {source="EFO:0002609", source="NCIT:C27179"} ! rheumatoid arthritis
property_value: closeMatch http://identifiers.org/snomedct/410795001
property_value: closeMatch http://identifiers.org/snomedct/410796000
property_value: exactMatch http://identifiers.org/snomedct/410793008
property_value: exactMatch NCIT:C27179

[Term]
id: MONDO:0005186
name: cocaine dependence
def: "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." [NCIT:P378]
synonym: "cocaine addiction" EXACT [NCIT:C34492]
xref: DOID:9975 {source="MONDO:equivalentTo", source="EFO:0002610"}
xref: EFO:0002610 {source="MONDO:equivalentTo"}
xref: ICD10:F14.2 {source="DOID:9975"}
xref: ICD9:304.2 {source="DOID:9975", source="EFO:0002610"}
xref: ICD9:304.20 {source="DOID:9975", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34492 {source="DOID:9975", source="MONDO:equivalentTo", source="EFO:0002610", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:31956009 {source="DOID:9975", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0002610"}
is_a: MONDO:0005303 {source="DOID:9975", source="EFO:0002610", source="MONDO:Redundant", source="NCIT:C34492", source="linkedlifedata", source="linkedlifedata/inferred"} ! drug dependence
property_value: closeMatch http://identifiers.org/mesh/D019970
property_value: closeMatch http://identifiers.org/snomedct/191829009
property_value: closeMatch http://identifiers.org/snomedct/191830004
property_value: closeMatch http://identifiers.org/snomedct/191834008
property_value: closeMatch http://identifiers.org/snomedct/192254002
property_value: closeMatch http://identifiers.org/snomedct/286934009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0600427
property_value: exactMatch DOID:9975
property_value: exactMatch http://identifiers.org/snomedct/31956009
property_value: exactMatch NCIT:C34492

[Term]
id: MONDO:0005187
name: human herpesvirus 8 infection
def: "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." [NCIT:P378]
synonym: "HHV8 infection" EXACT [NCIT:C39291]
synonym: "Human Herpes Virus 8 infection" EXACT [NCIT:C39291]
synonym: "Human Herpesvirus 8 infection" EXACT [NCIT:C39291]
xref: EFO:0002612 {source="MONDO:equivalentTo"}
xref: NCIT:C39291 {source="MONDO:equivalentTo", source="EFO:0002612"}
xref: UMLS:C1512508 {source="MONDO:equivalentTo", source="NCIT:C39291", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512508
property_value: exactMatch NCIT:C39291

[Term]
id: MONDO:0005188
name: iatrogenic Kaposi's sarcoma
def: "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." [NCIT:P378]
synonym: "iatrogenic Kaposi sarcoma" EXACT [NCIT:C35873]
synonym: "iatrogenic Kaposi's sarcoma" EXACT [NCIT:C35873]
xref: EFO:0002613 {source="MONDO:equivalentTo"}
xref: NCIT:C35873 {source="MONDO:equivalentTo", source="EFO:0002613"}
xref: UMLS:C1334149 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35873"}
is_a: MONDO:0005055 {source="EFO:0002613", source="NCIT:C35873"} ! Kaposi's sarcoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334149
property_value: exactMatch NCIT:C35873

[Term]
id: MONDO:0005189
name: internal carotid artery stenosis
def: "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." [EFO:0002615]
xref: EFO:0002615 {source="MONDO:equivalentTo"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:233964008 {source="MONDO:equivalentTo", source="EFO:0002615", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Wikipedia:Carotid_artery_stenosis {source="EFO:0002615"}
is_a: MONDO:0011057 {source="EFO:0002615"} ! cerebrovascular disorder
property_value: exactMatch http://identifiers.org/snomedct/233964008

[Term]
id: MONDO:0005190
name: macroglobulinemia
def: "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." [EFO:0002616]
synonym: "primary macroglobulinemia" EXACT [DOID:9080, MTHICD9_2006:273.3]
xref: COHD:435502 {source="MONDO:equivalentTo"}
xref: DOID:9080 {source="MONDO:equivalentTo", source="EFO:0002616"}
xref: EFO:0002616 {source="MONDO:equivalentTo"}
xref: ICD10:C88.0 {source="DOID:9080", source="MONDO:relatedTo"}
xref: ICD9:273.3 {source="DOID:9080", source="MONDO:equivalentTo", source="i2s", source="EFO:0002616"}
xref: SCTID:190817009 {source="DOID:9080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0002616"}
xref: Wikipedia:Macroglobulinemia {source="EFO:0002616"}
is_a: MONDO:0002273 {source="DOID:9080"} ! plasma protein metabolism disease
relationship: excluded_subClassOf MONDO:0004959 {source="EFO:0002616"} ! plasma cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/109981009
property_value: closeMatch http://identifiers.org/snomedct/154750002
property_value: closeMatch http://identifiers.org/snomedct/190014001
property_value: closeMatch http://identifiers.org/snomedct/190818004
property_value: closeMatch http://identifiers.org/snomedct/190821002
property_value: closeMatch http://identifiers.org/snomedct/267503004
property_value: closeMatch http://identifiers.org/snomedct/35562000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936755
property_value: closeMatch NCIT:C115212
property_value: exactMatch DOID:9080
property_value: exactMatch http://identifiers.org/snomedct/190817009

[Term]
id: MONDO:0005191
name: metastatic melanoma
def: "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C8925]
synonym: "metastatic malignant melanoma" EXACT []
synonym: "metastatic melanoma" EXACT [NCIT:C8925]
xref: EFO:0002617 {source="MONDO:equivalentTo"}
xref: NCIT:C8925 {source="MONDO:equivalentTo", source="EFO:0002617", source="exact-label-match"}
xref: SCTID:443493003 {source="MONDO:equivalentTo"}
xref: UMLS:C0278883 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005105 {source="EFO:0002617", source="MONDO:Redundant", source="NCIT:C8925"} ! melanoma (disease)
relationship: disease_has_feature MONDO:0024883 ! metastatic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0860594
property_value: exactMatch http://identifiers.org/snomedct/443493003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278883
property_value: exactMatch NCIT:C8925

[Term]
id: MONDO:0005192
name: exocrine pancreatic carcinoma
def: "A carcinoma that arises from epithelial cells of the exocrine pancreas" [MONDO:DesignPattern]
synonym: "cancer of pancreas" BROAD [NCIT:C3850]
synonym: "cancer of pancreas" EXACT [NCIT:C3850]
synonym: "cancer of the pancreas" BROAD [NCIT:C3850]
synonym: "cancer of the pancreas" EXACT [NCIT:C3850]
synonym: "carcinoma of exocrine pancreas" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of pancreas" EXACT [DOID:4905, NCIT:C3850]
synonym: "carcinoma of the pancreas" EXACT [NCIT:C3850]
synonym: "exocrine cancer" BROAD [NCIT:C3850]
synonym: "exocrine cancer" EXACT [DOID:4905, NCIT:C3850]
synonym: "exocrine pancreas carcinoma" EXACT [DOID:4905, MONDO:patterns/location, NCIT:C3850]
synonym: "pancreas cancer" BROAD [NCIT:C3850]
synonym: "pancreas cancer" EXACT [NCIT:C3850]
synonym: "pancreas carcinoma" EXACT [NCIT:C3850]
synonym: "pancreatic cancer" BROAD [NCIT:C3850]
synonym: "pancreatic cancer" EXACT [NCIT:C3850]
synonym: "pancreatic cancer (excluding islets), NOS" RELATED EXCLUDE [NCIT:C3850]
synonym: "pancreatic cancer (not islets)" EXACT [NCIT:C3850]
synonym: "pancreatic carcinoma" EXACT [NCIT:C3850]
synonym: "pancreatic carcinoma, familial" RELATED [DOID:4905, MESH:C535837]
xref: DOID:4905 {source="MONDO:equivalentTo", source="EFO:0002618"}
xref: EFO:0002618 {source="MONDO:equivalentTo", source="DOID:4905"}
xref: NCIT:C3850 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"}
xref: SCTID:372142002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09", source="DOID:4905", source="EFO:0002618"}
xref: UMLS:C0235974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3850", source="DOID:4905"}
is_a: MONDO:0002116 {source="MONDO:Redundant", source="NCIT:C3850", source="OWLReasoner:2017"} ! malignant exocrine pancreas neoplasm
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3850"} ! digestive system carcinoma
property_value: closeMatch http://identifiers.org/mesh/C562463
property_value: closeMatch http://identifiers.org/snomedct/154475002
property_value: closeMatch http://identifiers.org/snomedct/255089009
property_value: closeMatch http://identifiers.org/snomedct/93938001
property_value: exactMatch DOID:4905
property_value: exactMatch http://identifiers.org/snomedct/372142002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235974
property_value: exactMatch NCIT:C3850

[Term]
id: MONDO:0005193
name: prostate intraepithelial neoplasia
def: "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." [NCIT:C4064]
synonym: "pin" EXACT [NCIT:C4064]
synonym: "pin - prostatic intraepithelial neoplasia" EXACT [NCIT:C4064]
synonym: "prostate intraepithelial neopl." EXACT [NCIT:C4064]
synonym: "prostate intraepithelial neoplasia (pin)" EXACT [NCIT:C4064]
synonym: "prostatic intraepithelial neoplasia" EXACT [NCIT:C4064]
xref: EFO:0002621 {source="MONDO:equivalentTo"}
xref: MESH:D019048 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: MP:0009219 {source="EFO:0002621"}
xref: NCIT:C4064 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: SCTID:254901000 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: UMLS:C0282612 {source="NCIT:C4064", source="MONDO:equivalentTo"}
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C4064"} ! prostate neoplasm
is_a: MONDO:0024474 ! intraepithelial neoplasia
property_value: exactMatch http://identifiers.org/mesh/D019048
property_value: exactMatch http://identifiers.org/snomedct/254901000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282612
property_value: exactMatch NCIT:C4064

[Term]
id: MONDO:0005194
name: Rotavirus infection
def: "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." [MESH:D012400]
synonym: "Rotavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rotavirus disease or disorder" EXACT []
synonym: "Rotavirus infectious disease" EXACT []
xref: EFO:0002622 {source="MONDO:equivalentTo"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012400 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:18624000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0035869 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005939 ! Reoviridae infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/mesh/D012400
property_value: exactMatch http://identifiers.org/snomedct/18624000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035869

[Term]
id: MONDO:0005195
name: septic peritonitis
def: "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." [EFO:0002623]
xref: EFO:0002623 {source="MONDO:equivalentTo"}
xref: PMID:22911262 {source="EFO:0002623"}
xref: Wikipedia:Septic_peritonitis {source="EFO:0002623"}
is_a: MONDO:0004522 ! peritonitis
is_a: MONDO:0005113 {source="EFO:0002623"} ! bacterial infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease

[Term]
id: MONDO:0005196
name: obsolete teratozoospermia
def: "presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [EFO:0002625]
comment: This is a finding.
xref: EFO:0002625 {source="MONDO:equivalentObsolete"}
xref: MP:0005578 {source="EFO:0002625"}
xref: SCTID:236817003 {source="MONDO:equivalentObsolete", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0002625"}
xref: UMLS:C0403824 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentObsolete"}
property_value: exactMatch http://identifiers.org/snomedct/236817003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403824
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1786 xsd:string
is_obsolete: true
consider: HP:0012864

[Term]
id: MONDO:0005197
name: thymus neoplasm
def: "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." [NCIT:C3412]
subset: ordo_group_of_disorders {source="Orphanet:100100"}
synonym: "neoplasm of the Thymus" EXACT [NCIT:C3412]
synonym: "neoplasm of Thymus" EXACT [NCIT:C3412]
synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm]
synonym: "thymic neoplasm" EXACT [NCIT:C3412]
synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412]
synonym: "THYMUS" RELATED [ONCOTREE:THYMUS]
synonym: "Thymus neoplasm" EXACT [NCIT:C3412]
synonym: "thymus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Thymus tumor" EXACT [NCIT:C3412]
synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Thymus" EXACT [NCIT:C3412]
synonym: "tumor of Thymus" EXACT [NCIT:C3412]
synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm]
xref: EFO:0002626 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3412 {source="MONDO:equivalentTo", source="EFO:0002626"}
xref: ONCOTREE:THYMUS {source="MONDO:equivalentTo"}
xref: Orphanet:100100 {source="MONDO:equivalentTo"}
xref: SCTID:127231009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.74/0.79"}
xref: UMLS:C3714644 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:100100", source="MONDO:equivalentTo", source="NCIT:C3412"}
is_a: MONDO:0002082 ! endocrine gland neoplasm
is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0003393 ! thymus gland disease
is_a: MONDO:0021350 ! neoplasm of thorax
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040113
property_value: closeMatch NCIT:C12433
property_value: exactMatch http://identifiers.org/snomedct/127231009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714644
property_value: exactMatch NCIT:C3412
property_value: exactMatch Orphanet:100100

[Term]
id: MONDO:0005198
name: vulvar intraepithelial neoplasia
def: "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." [NCIT:P378]
subset: ordo_disease {source="Orphanet:137583"}
synonym: "intraepithelial neoplasia of the vulva" EXACT [NCIT:C4756]
synonym: "intraepithelial neoplasia of vulva" EXACT [NCIT:C4756]
synonym: "squamous vulvar intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "VIN" EXACT [NCIT:C4756]
synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583]
xref: EFO:0002627 {source="MONDO:equivalentTo"}
xref: ICD10:D07.1 {source="Orphanet:137583", source="ORDO:137583/ntbt"}
xref: NCIT:C4756 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0002627"}
xref: Orphanet:137583 {source="MONDO:equivalentTo"}
xref: UMLS:C0346210 {source="MONDO:equivalentTo", source="Orphanet:137583", source="NCIT:C4756", source="ORDO:137583/e"}
is_a: MONDO:0002195 {source="NCIT:C4756"} ! vulvar squamous neoplasm
is_a: MONDO:0015876 {source="Orphanet:137583"} ! rare vulvovaginal tumor
property_value: closeMatch http://identifiers.org/snomedct/399382009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346210
property_value: exactMatch NCIT:C4756
property_value: exactMatch Orphanet:137583

[Term]
id: MONDO:0005199
name: obsolete peripartum cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0018920

[Term]
id: MONDO:0005200
name: viral dilated cardiomyopathy
def: "An dilated cardiomyopathy caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses caused dilated cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses dilated cardiomyopathy" EXACT []
xref: EFO:0002629 {source="MONDO:equivalentTo"}
xref: SCTID:30496006 {source="MONDO:equivalentTo", source="EFO:0002629"}
xref: UMLS:C0264797 {source="MONDO:equivalentTo"}
xref: Wikipedia:Viral_cardiomyopathy {source="EFO:0002629"}
is_a: MONDO:0005021 {source="EFO:0002629", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/snomedct/30496006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264797

[Term]
id: MONDO:0005201
name: restrictive cardiomyopathy
def: "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." [NCIT:C62798]
subset: ordo_group_of_disorders {source="Orphanet:217632"}
synonym: "cardiomyopathy, constrictive" EXACT [DOID:397, MTHICD9_2006:425.4]
synonym: "familial restrictive cardiomyopathy" NARROW [DOID:397]
synonym: "primary restrictive cardiomyopathy" EXACT [DOID:397]
synonym: "restrictive cardiomyopathy" EXACT [DOID:397, NCIT:C62798]
xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"}
xref: EFO:0002630 {source="MONDO:equivalentTo"}
xref: ICD10:I42.5 {source="DOID:397"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10038748 {source="Orphanet:217632", source="ORDO:217632/e"}
xref: MESH:D002313 {source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632", source="ORDO:217632/e"}
xref: NCIT:C62798 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"}
xref: Orphanet:217632 {source="MONDO:equivalentTo"}
xref: SCTID:415295002 {source="MONDO:kboom-pr-0.87/0.62/1.00", source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"}
xref: UMLS:C0007196 {source="NCIT:C62798", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632", source="ORDO:217632/e"}
is_a: MONDO:0000591 {source="DOID:397", source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/389996009
property_value: closeMatch http://identifiers.org/snomedct/90828009
property_value: exactMatch DOID:397
property_value: exactMatch http://identifiers.org/meddra/10038748
property_value: exactMatch http://identifiers.org/mesh/D002313
property_value: exactMatch http://identifiers.org/snomedct/415295002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007196
property_value: exactMatch NCIT:C62798
property_value: exactMatch Orphanet:217632

[Term]
id: MONDO:0005202
name: atopic IgE-mediated allergic disorder
def: "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." [NCIT:C41366]
comment: Editor notes: this is a finding in NCIT
synonym: "Atopic allergy" RELATED [NCIT:C41366]
synonym: "atopic state" RELATED []
synonym: "atopy" RELATED []
xref: EFO:0002686 {source="MONDO:equivalentTo"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:115665000 {source="EFO:0002686", source="MONDO:equivalentTo"}
xref: UMLS:C1706410 {source="MONDO:equivalentTo"}
is_a: MONDO:0005271 {source="EFO:0002686", source="linkedlifedata"} ! allergic disease
property_value: exactMatch http://identifiers.org/snomedct/115665000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706410
property_value: exactMatch NCIT:C41366

[Term]
id: MONDO:0005203
name: ischemia reperfusion injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." [MESH:D015427]
xref: EFO:0002687 {source="MONDO:equivalentTo"}
xref: MESH:D015427 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: PMID:10685060 {source="EFO:0002687"}
is_a: MONDO:0021178 {source="https://github.com/monarch-initiative/mondo/issues/1040"} ! injury
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:0002687", source="EFO:0002687/inferred", source="MESH:D015427/inferred"} ! cardiovascular disease
property_value: exactMatch http://identifiers.org/mesh/D015427

[Term]
id: MONDO:0005204
name: primary antiphospholipid syndrome
def: "An antiphospholipid syndrome that occurs as an isolated disorder." [https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/]
xref: EFO:0002689 {source="MONDO:equivalentTo"}
xref: ICD9:795.79 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:239892009 {source="MONDO:equivalentTo", source="EFO:0002689", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0409980 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007140 {source="MONDO:cjm", source="MONDOLEX:0005204", source="linkedlifedata"} ! antiphospholipid syndrome
property_value: exactMatch http://identifiers.org/snomedct/239892009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409980

[Term]
id: MONDO:0005205
name: obsolete systemic lupus erythematosus
is_obsolete: true
replaced_by: MONDO:0007915

[Term]
id: MONDO:0005206
name: renal carcinoma
def: "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." [NCIT:C9384]
synonym: "carcinoma of kidney" EXACT [DOID:4451, MONDO:patterns/carcinoma]
synonym: "kidney (including renal cell) cancer" EXACT [NCIT:C9384]
synonym: "kidney (renal) cancer" EXACT [NCIT:C9384]
synonym: "kidney cancer" EXACT [NCIT:C9384]
synonym: "kidney cancer, NOS" RELATED EXCLUDE [NCIT:C9384]
synonym: "kidney carcinoma" EXACT [DOID:4451, MONDO:patterns/location, NCIT:C9384]
synonym: "renal cancer" EXACT [NCIT:C9384]
synonym: "renal carcinoma" EXACT [NCIT:C9384]
xref: DOID:4451 {source="EFO:0002890", source="MONDO:equivalentTo"}
xref: EFO:0002890 {source="MONDO:equivalentTo"}
xref: NCIT:C9384 {source="EFO:0002890", source="MONDO:equivalentTo", source="DOID:4451"}
xref: UMLS:C1378703 {source="MONDO:equivalentTo", source="DOID:4451", source="NCIT:C9384"}
is_a: MONDO:0002367 {source="DOID:4451", source="MONDO:Redundant", source="MONDOLEX:0005206", source="NCIT:C9384"} ! kidney cancer
is_a: MONDO:0004993 {source="DOID:4451", source="EFO:0002890", source="MONDO:Redundant", source="MONDOLEX:0005206", source="NCIT:C9384"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/188251003
property_value: exactMatch DOID:4451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378703
property_value: exactMatch NCIT:C9384

[Term]
id: MONDO:0005207
name: choriocarcinoma (disease)
def: "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." [NCIT:C2948]
comment: Editor note: TODO check classification w.r.t carcinoma
synonym: "chorioblastoma" EXACT [NCIT:C2948]
synonym: "choriocarcinoma" EXACT [MONDO:ambiguous, NCIT:C2948]
synonym: "choriocarcinoma, malignant" EXACT [NCIT:C2948]
synonym: "chorioepithelioma" EXACT [DOID:3594, NCIT:C2948]
synonym: "chorion carcinoma" EXACT [MONDO:patterns/location]
synonym: "chorionic carcinoma" EXACT [NCIT:C2948]
xref: DOID:3594 {source="EFO:0002893", source="MONDO:equivalentTo"}
xref: EFO:0002893 {source="MONDO:equivalentTo"}
xref: GARD:0006059 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100768 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C58 {source="DOID:3594"}
xref: ICDO:9100/3 {source="NCIT:C2948"}
xref: MESH:D002822 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2948 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"}
xref: ONCOTREE:BCCA {source="MONDO:equivalentTo"}
xref: SCTID:188188009 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0008497 {source="DOID:3594", source="MEDGEN:kboom-pr98-c99", source="NCIT:C2948", source="MONDO:equivalentTo"}
is_a: MONDO:0002872 {source="MESH:D002822", source="NCIT:C2948"} ! trophoblastic neoplasm
is_a: MONDO:0005040 {source="MONDO:cjm"} ! germ cell tumor
relationship: excluded_subClassOf MONDO:0002178 {source="DOID:3594"} ! placenta cancer
relationship: excluded_subClassOf MONDO:0004970 {source="MESH:D002822"} ! adenocarcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018080"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/189444004
property_value: closeMatch http://identifiers.org/snomedct/44769000
property_value: exactMatch DOID:3594
property_value: exactMatch http://identifiers.org/mesh/D002822
property_value: exactMatch http://identifiers.org/snomedct/188188009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008497
property_value: exactMatch NCIT:C2948

[Term]
id: MONDO:0005208
name: amelanotic skin melanoma
def: "A amelanotic melanoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "amelanotic cutaneous (skin) melanoma" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma (of skin)" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma of skin" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma of the skin" EXACT [NCIT:C4633]
synonym: "amelanotic malignant skin melanoma" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of skin" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of the skin" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "amelanotic skin melanoma" EXACT [NCIT:C4633]
synonym: "skin amelanotic malignant melanoma" EXACT [DOID:10054]
synonym: "skin amelanotic melanoma" EXACT [MONDO:0000932]
synonym: "zone of skin amelanotic melanoma" EXACT [MONDO:patterns/location]
xref: DOID:10054 {source="MONDO:equivalentTo"}
xref: EFO:0002894 {source="MONDO:equivalentTo"}
xref: NCIT:C4633 {source="MONDO:kboom-pr-0.93/0.86/0.07", source="EFO:0002894", source="MONDO:equivalentTo", source="DOID:10054"}
xref: UMLS:C0349515 {source="MONDO:equivalentTo", source="DOID:10054", source="NCIT:C4633"}
xref: Wikipedia:Amelanotic_melanoma {source="EFO:0002894"}
is_a: MONDO:0002971 {source="DOID:10054", source="MONDO:Redundant", source="MONDOLEX:0005208", source="NCIT:C4633"} ! amelanotic melanoma
is_a: MONDO:0005012 {source="DOID:10054", source="MONDO:Redundant", source="MONDOLEX:0005208", source="NCIT:C4633"} ! cutaneous melanoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/276751004
property_value: exactMatch DOID:10054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349515
property_value: exactMatch NCIT:C4633

[Term]
id: MONDO:0005209
name: obsolete cutaneous T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0000607

[Term]
id: MONDO:0005210
name: uterine corpus sarcoma
alt_id: MONDO:0021422
def: "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." [NCIT:C6339]
subset: gard_rare {source="GARD:0009383"}
subset: ordo_group_of_disorders {source="Orphanet:213620"}
synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri sarcoma" EXACT [NCIT:C6339]
synonym: "sarcoma of body of uterus" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of corpus uteri" EXACT [DOID:5165, NCIT:C6339]
synonym: "sarcoma of the body of uterus" EXACT [NCIT:C6339]
synonym: "sarcoma of the corpus uteri" EXACT [MONDO:0016261]
synonym: "sarcoma of the uterine body" EXACT [NCIT:C6339]
synonym: "sarcoma of the uterine corpus" EXACT [NCIT:C6339]
synonym: "sarcoma of the uterus" RELATED [GARD:0009383]
synonym: "sarcoma of uterine body" EXACT [NCIT:C6339]
synonym: "sarcoma of uterine corpus" EXACT [NCIT:C6339]
synonym: "sarcoma of uterus" EXACT [NCIT:C6339]
synonym: "uterine body sarcoma" EXACT [NCIT:C6339]
synonym: "uterine sarcoma" RELATED [GARD:0009383]
synonym: "uterine sarcoma/mesenchymal" RELATED [ONCOTREE:USARC]
synonym: "uterus sarcoma" EXACT [NCIT:C6339]
xref: DOID:5165 {source="MONDO:equivalentTo", source="EFO:0002914"}
xref: EFO:0002914 {source="MONDO:equivalentTo"}
xref: GARD:0009383 {source="MONDO:equivalentTo"}
xref: ICD10:C54.2 {source="Orphanet:213620", source="ORDO:213620/ntbt"}
xref: MedDRA:10039497 {source="ORDO:213620/e", source="Orphanet:213620"}
xref: NCIT:C6339 {source="MONDO:equivalentTo", source="EFO:0002914", source="DOID:5165"}
xref: ONCOTREE:USARC {source="MONDO:equivalentTo"}
xref: Orphanet:213620 {source="MONDO:equivalentTo"}
xref: SCTID:254877001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5165"}
xref: UMLS:C0338113 {source="ORDO:213620/e", source="Orphanet:213620", source="MONDO:equivalentTo", source="NCIT:C6339", source="DOID:5165"}
is_a: MONDO:0005089 {source="DOID:5165", source="EFO:0002914", source="MONDO:Redundant", source="NCIT:C6339/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma
is_a: MONDO:0006003 {source="DOID:5165", source="MONDO:Entailed", source="indirect"} ! uterine corpus cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch DOID:5165
property_value: exactMatch http://identifiers.org/meddra/10039497
property_value: exactMatch http://identifiers.org/snomedct/254877001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338113
property_value: exactMatch NCIT:C6339
property_value: exactMatch Orphanet:213620
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma xsd:anyURI {source="GARD:0009383"}

[Term]
id: MONDO:0005211
name: ovarian serous adenocarcinoma
alt_id: MONDO:0003625
def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." [NCIT:C7550]
synonym: "malignant ovarian serous tumor" EXACT EXCLUDE [DOID:5744]
synonym: "ovarian serous adenocarcinoma" EXACT [NCIT:C7550]
synonym: "ovarian serous carcinoma" EXACT [MONDO:0000547, NCIT:C7550]
synonym: "ovary serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "serous adenocarcinoma of ovary" EXACT [NCIT:C7550]
synonym: "serous adenocarcinoma of the ovary" EXACT [NCIT:C7550]
synonym: "serous carcinoma of ovary" EXACT [DOID:5744, NCIT:C7550]
synonym: "serous carcinoma of the ovary" EXACT [NCIT:C7550]
synonym: "serous ovarian cancer" RELATED [ONCOTREE:SOC]
xref: DOID:0050933 {source="MONDO:equivalentTo"}
xref: DOID:5744 {source="MONDO:equivalentTo"}
xref: EFO:0002917 {source="MONDO:equivalentTo"}
xref: NCIT:C7550 {source="EFO:0002917", source="DOID:5744", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21"}
xref: ONCOTREE:SOC {source="MONDO:equivalentTo"}
is_a: MONDO:0002752 ! ovarian adenocarcinoma
is_a: MONDO:0005278 {source="DOID:5744", source="EFO:0002917", source="MONDO:Redundant", source="MONDOLEX:0005211", source="NCIT:C7550"} ! serous adenocarcinoma
is_a: MONDO:0024885 {source="MONDOLEX:0005211", source="NCIT:C7550"} ! malignant ovarian serous tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335177
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518234
property_value: exactMatch DOID:0050933
property_value: exactMatch DOID:5744
property_value: exactMatch NCIT:C7550

[Term]
id: MONDO:0005212
name: rhabdomyosarcoma (disease)
def: "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." [NCIT:C3359]
subset: ordo_disease {source="Orphanet:780"}
synonym: "rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C3359]
synonym: "rhabdomyosarcoma (disease)" EXACT [MONDO:0019185]
synonym: "rhabdomyosarcoma, malignant" EXACT [NCIT:C3359]
synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [NCIT:C3359]
xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"}
xref: EFO:0002918 {source="MONDO:equivalentTo"}
xref: HP:0002859 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="ORDO:780/ntbt", source="Orphanet:780"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8900/3 {source="NCIT:C3359"}
xref: MedDRA:10039022 {source="ORDO:780/e", source="Orphanet:780"}
xref: MESH:D012208 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780", source="MONDO:ontobio"}
xref: NCIT:C3359 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"}
xref: ONCOTREE:RMS {source="MONDO:equivalentTo"}
xref: Orphanet:780 {source="MONDO:equivalentTo"}
xref: SCTID:302847003 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0035412 {source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780", source="NCIT:C3359"}
is_a: MONDO:0002847 {source="DOID:3247", source="MONDO:Redundant", source="NCIT:C3359"} ! skeletal muscle cancer
is_a: MONDO:0016123 {source="Orphanet:780"} ! muscular tumor
is_a: MONDO:0018078 {source="Orphanet:780"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/134166003
property_value: closeMatch http://identifiers.org/snomedct/30924005
property_value: exactMatch DOID:3247
property_value: exactMatch http://identifiers.org/meddra/10039022
property_value: exactMatch http://identifiers.org/mesh/D012208
property_value: exactMatch http://identifiers.org/snomedct/302847003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035412
property_value: exactMatch NCIT:C3359
property_value: exactMatch Orphanet:780

[Term]
id: MONDO:0005213
name: uterine carcinoma
def: "A carcinoma involving a uterus." [MONDO:patterns/carcinoma]
synonym: "carcinoma of uterus" EXACT [MONDO:patterns/carcinoma]
synonym: "uterus carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:0002919 {source="MONDO:equivalentTo"}
xref: SCTID:446022000 {source="MONDO:equivalentTo"}
xref: UMLS:C2960452 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002715 ! uterine cancer
is_a: MONDO:0004993 {source="EFO:0002919", source="MONDO:Redundant", source="MONDOLEX:0005213", source="linkedlifedata"} ! carcinoma
property_value: exactMatch http://identifiers.org/snomedct/446022000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960452

[Term]
id: MONDO:0005214
name: vulva sarcoma
def: "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." [NCIT:C40317]
synonym: "mammalian vulva sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of mammalian vulva" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of vulva" EXACT [DOID:2096]
synonym: "vulvar sarcoma" EXACT [DOID:2096, NCIT:C40317]
xref: DOID:2096 {source="MONDO:equivalentTo", source="EFO:0002920"}
xref: EFO:0002920 {source="MONDO:equivalentTo"}
xref: NCIT:C40317 {source="MONDO:equivalentTo", source="EFO:0002920", source="DOID:2096"}
xref: SCTID:254897006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2096"}
xref: UMLS:C0238525 {source="NCIT:C40317", source="MONDO:equivalentTo", source="DOID:2096"}
is_a: MONDO:0001528 {source="DOID:2096", source="MONDO:Redundant", source="NCIT:C40317", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0018078 {source="NCIT:C40317"} ! soft tissue sarcoma
property_value: exactMatch DOID:2096
property_value: exactMatch http://identifiers.org/snomedct/254897006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238525
property_value: exactMatch NCIT:C40317

[Term]
id: MONDO:0005215
name: vulvar carcinoma
def: "A carcinoma that arises from epithelial cells of the mammalian vulva" [MONDO:DesignPattern]
synonym: "cancer of the vulva" EXACT [NCIT:C4866]
synonym: "cancer of vulva" EXACT [NCIT:C4866]
synonym: "carcinoma of mammalian vulva" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the vulva" EXACT [NCIT:C4866]
synonym: "carcinoma of vulva" EXACT [DOID:1294, NCIT:C4866]
synonym: "mammalian vulva carcinoma" EXACT [MONDO:patterns/location]
synonym: "vulva cancer" EXACT [NCIT:C4866]
synonym: "vulva carcinoma" EXACT [NCIT:C4866]
synonym: "vulvar cancer" EXACT [NCIT:C4866]
synonym: "vulvar cancer, NOS" RELATED EXCLUDE [NCIT:C4866]
synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866]
xref: DOID:1294 {source="MONDO:equivalentTo", source="EFO:0002921"}
xref: EFO:0002921 {source="MONDO:equivalentTo"}
xref: NCIT:C4866 {source="MONDO:equivalentTo", source="EFO:0002921", source="DOID:1294"}
xref: Orphanet:494418 {source="MONDO:equivalentTo"}
xref: SCTID:447882007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.67"}
xref: UMLS:C0677055 {source="MONDO:equivalentTo", source="NCIT:C4866", source="DOID:1294"}
is_a: MONDO:0001528 {source="DOID:1294", source="MONDO:Redundant", source="MONDOLEX:0005215", source="NCIT:C4866", source="linkedlifedata"} ! vulva cancer
is_a: MONDO:0004993 {source="DOID:1294", source="EFO:0002921", source="MONDO:Redundant", source="MONDOLEX:0005215", source="NCIT:C4866", source="linkedlifedata"} ! carcinoma
property_value: exactMatch DOID:1294
property_value: exactMatch http://identifiers.org/snomedct/447882007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677055
property_value: exactMatch NCIT:C4866
property_value: exactMatch Orphanet:494418

[Term]
id: MONDO:0005216
name: hypopharyngeal carcinoma
def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." [NCIT:C9465]
comment: Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx {source="EFO:0002938"}
synonym: "cancer of hypopharynx" EXACT [NCIT:C9465]
synonym: "cancer of the hypopharynx" EXACT [NCIT:C9465]
synonym: "carcinoma of hypopharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9465]
synonym: "carcinoma of the hypopharynx" EXACT [NCIT:C9465]
synonym: "hypopharyngeal cancer" EXACT [NCIT:C9465]
synonym: "hypopharyngeal carcinoma" EXACT [NCIT:C9465]
synonym: "hypopharyngeal throat cancer" EXACT [NCIT:C9465]
synonym: "hypopharynx carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:0002938 {source="MONDO:equivalentTo"}
xref: NCIT:C9465 {source="MONDO:equivalentTo", source="EFO:0002938"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0005806 {source="MONDO:Redundant", source="MONDOLEX:0005216", source="NCIT:C9465"} ! hypopharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9465"} ! carcinoma of pharynx
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153398
property_value: exactMatch NCIT:C9465

[Term]
id: MONDO:0005217
name: familial cardiomyopathy
def: "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary cardiomyopathy" EXACT [MONDO:patterns/hereditary]
xref: EFO:0002945 {source="MONDO:equivalentTo"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:35728003 {source="MONDO:equivalentTo", source="EFO:0002945", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0264789 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004994 {source="EFO:0002945", source="MONDO:Redundant", source="linkedlifedata"} ! cardiomyopathy
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/35728003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264789

[Term]
id: MONDO:0005218
name: muscular disease
def: "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle." [MESH:D009135]
comment: Editor note: consider merging with child
synonym: "disease of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of muscle organ" EXACT []
synonym: "disorder of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "disorder of muscle organ" RELATED [MONDO:patterns/location_top]
synonym: "muscle organ disease" EXACT [MONDO:patterns/location]
synonym: "muscle organ disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0080000 {source="EFO:0002970", source="MONDO:equivalentTo"}
xref: EFO:0002970 {source="MONDO:equivalentTo"}
xref: MESH:D009135 {source="EFO:0002970", source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="MONDO:cjm"} ! musculoskeletal system disease
relationship: excluded_subClassOf MONDO:0005172 {source="EFO:0002970"} ! skeletal system disease
property_value: exactMatch DOID:0080000
property_value: exactMatch http://identifiers.org/mesh/D009135

[Term]
id: MONDO:0005219
name: breast fibrocystic disease
def: "Fibrosis associated with cyst formation in the breast parenchyma." [NCIT:C3039]
comment: Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic
synonym: "benign breast disease" EXACT [NCIT:C3039]
synonym: "breast fibrocystic change" EXACT [DOID:10354, NCIT:C3039]
synonym: "cystic disease of breast" EXACT [NCIT:C3039]
synonym: "cystic disease of the breast" EXACT [NCIT:C3039]
synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM_2006:610.1]
synonym: "fibrocystic breast" EXACT [NCIT:C3039]
synonym: "fibrocystic breast changes" EXACT [NCIT:C3039]
synonym: "fibrocystic breast disease" EXACT [NCIT:C3039]
synonym: "fibrocystic change of breast" EXACT [NCIT:C3039]
synonym: "fibrocystic change of the breast" EXACT [NCIT:C3039]
synonym: "fibrocystic disease" EXACT [NCIT:C3039]
synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302, MTHICD9_2006:610.1]
synonym: "fibrocystic disease of the breast" EXACT [NCIT:C3039]
synonym: "fibrocystic mastopathy" EXACT [NCIT:C3039]
synonym: "mammary dysplasia" EXACT [NCIT:C3039]
xref: COHD:78804 {source="MONDO:equivalentTo"}
xref: DOID:10354 {source="EFO:0003014", source="MONDO:equivalentTo"}
xref: EFO:0003014 {source="MONDO:equivalentTo"}
xref: ICD10:N60 {source="DOID:10354"}
xref: ICD10:N60.1 {source="DOID:10354"}
xref: ICD9:610.1 {source="EFO:0003014", source="DOID:10354"}
xref: MESH:D005348 {source="MONDO:equivalentTo", source="DOID:10354"}
xref: NCIT:C3039 {source="EFO:0003014", source="MONDO:equivalentTo", source="DOID:10354", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0016034 {source="MONDO:equivalentTo", source="DOID:10354"}
is_a: MONDO:0002657 ! breast disease
relationship: excluded_subClassOf MONDO:0000620 {source="DOID:10354"} ! breast benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/198091009
property_value: closeMatch http://identifiers.org/snomedct/237436008
property_value: closeMatch http://identifiers.org/snomedct/27431007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527375
property_value: exactMatch DOID:10354
property_value: exactMatch http://identifiers.org/mesh/D005348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016034
property_value: exactMatch NCIT:C3039

[Term]
id: MONDO:0005220
name: collecting duct carcinoma
def: "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" [MONDO:DesignPattern]
subset: ordo_disease {source="Orphanet:247203"}
synonym: "BDC" EXACT [NCIT:C6194, Orphanet:247203]
synonym: "Bellini carcinoma" EXACT [Orphanet:247203]
synonym: "Bellini duct carcinoma" EXACT [NCIT:C6194, Orphanet:247203]
synonym: "Bellini’s duct carcinoma" RELATED [GARD:0009573]
synonym: "carcinoma of collecting duct of renal tubule" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of collecting ducts of Bellini" EXACT [NCIT:C6194]
synonym: "carcinoma of kidney collecting duct" EXACT [NCIT:C6194]
synonym: "carcinoma of renal collecting duct" EXACT [DOID:4464, NCIT:C6194]
synonym: "carcinoma of the collecting ducts of Bellini" EXACT [NCIT:C6194]
synonym: "carcinoma of the kidney collecting duct" EXACT [NCIT:C6194]
synonym: "carcinoma of the renal collecting duct" EXACT [NCIT:C6194]
synonym: "cDC" EXACT [Orphanet:247203]
synonym: "collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "collecting duct carcinoma of the kidney" RELATED [GARD:0009573]
synonym: "collecting duct of renal tubule carcinoma" EXACT [MONDO:patterns/location]
synonym: "collecting duct renal cancer" EXACT [NCIT:C6194]
synonym: "collecting duct renal cell carcinoma" EXACT [NCIT:C6194]
synonym: "kidney collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "renal carcinoma, collecting duct type" EXACT [DOID:4464]
synonym: "renal collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "renal medullary carcinoma" EXACT [DOID:4464, NCIT:C7572]
xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"}
xref: EFO:0003016 {source="MONDO:equivalentTo"}
xref: GARD:0009573 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C64 {source="Orphanet:247203", source="ORDO:247203/ntbt"}
xref: ICDO:8319/3 {source="NCIT:C6194"}
xref: NCIT:C6194 {source="DOID:4464", source="MONDO:kboom-pr-0.92/0.84/0.07", source="EFO:0003016", source="MONDO:equivalentTo"}
xref: ONCOTREE:CDRCC {source="MONDO:equivalentTo"}
xref: Orphanet:247203 {source="MONDO:equivalentTo"}
xref: UMLS:C1266044 {source="DOID:4464", source="ORDO:247203/e", source="Orphanet:247203", source="MONDO:equivalentTo", source="NCIT:C6194"}
is_a: MONDO:0005086 {source="DOID:4464", source="EFO:0003016", source="MONDOLEX:0005220", source="ONCOTREE:CDRCC/inferred", source="Orphanet:247203"} ! renal cell carcinoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128669006
property_value: exactMatch DOID:4464
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266044
property_value: exactMatch NCIT:C6194
property_value: exactMatch Orphanet:247203

[Term]
id: MONDO:0005221
name: renal pelvis urothelial carcinoma
def: "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas." [NCIT:C7355]
synonym: "kidney renal pelvis urothelial cancer" EXACT [NCIT:C7355]
synonym: "renal pelvis transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7355]
synonym: "renal pelvis urothelial cancer" EXACT [NCIT:C7355]
synonym: "renal pelvis urothelial carcinoma" EXACT [NCIT:C7355]
synonym: "transitional cell carcinoma of renal pelvis" EXACT [NCIT:C7355]
synonym: "transitional cell carcinoma of the renal pelvis" EXACT [NCIT:C7355]
synonym: "urothelial cell carcinoma of renal pelvis" EXACT [DOID:5974, NCIT:C7355]
synonym: "urothelial cell carcinoma of the renal pelvis" EXACT [NCIT:C7355]
xref: DOID:5974 {source="MONDO:equivalentTo", source="EFO:0003017"}
xref: EFO:0003017 {source="MONDO:equivalentTo"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7355 {source="DOID:5974", source="MONDO:equivalentTo", source="EFO:0003017"}
xref: SCTID:408642003 {source="MONDO:equivalentTo", source="EFO:0003017", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0238410 {source="DOID:5974", source="NCIT:C7355", source="MONDO:equivalentTo"}
is_a: MONDO:0005519 {source="DOID:5974", source="MONDO:Redundant", source="MONDOLEX:0005221", source="NCIT:C7355"} ! renal pelvis carcinoma
is_a: MONDO:0020654 ! renal pelvis/ureter urothelial carcinoma
property_value: exactMatch DOID:5974
property_value: exactMatch http://identifiers.org/snomedct/408642003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238410
property_value: exactMatch NCIT:C7355

[Term]
id: MONDO:0005222
name: obsolete acute megakaryoblastic leukaemia
is_obsolete: true
replaced_by: MONDO:0004655

[Term]
id: MONDO:0005223
name: acute myeloid leukemia with minimal differentiation
alt_id: MONDO:0020318
def: "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" [NCIT:C8460]
subset: ordo_disease {source="Orphanet:98832"}
synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloblastic leukemia, minimally differentiated" EXACT [NCIT:C8460]
synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloid leukemia with minimal differentiation (MO)" EXACT [NCIT:C8460]
synonym: "acute myeloid leukemia, minimally differentiated" EXACT [NCIT:C8460]
synonym: "AML M0" EXACT [Orphanet:98832]
synonym: "AML with minimal differentiation" EXACT [NCIT:C8460]
synonym: "AMLMD" RELATED [ONCOTREE:AMLMD]
synonym: "M0 acute granulocytic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "M0 acute myeloblastic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelocytic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelogenous leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "M0 myeloid leukemia" EXACT [NCIT:C8460]
synonym: "M0 myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832]
xref: EFO:0003026 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="Orphanet:98832", source="ORDO:98832/ntbt"}
xref: ICDO:9872/3 {source="NCIT:C8460"}
xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"}
xref: ONCOTREE:AMLMD {source="MONDO:equivalentTo"}
xref: Orphanet:98832 {source="MONDO:equivalentTo"}
xref: UMLS:C0522631 {source="Orphanet:98832", source="MONDO:equivalentTo", source="NCIT:C8460"}
is_a: MONDO:0011118 {source="EFO:0003026"} ! bilineal acute myeloid leukemia
is_a: MONDO:0015667 {source="Orphanet:98832"} ! unclassified acute myeloid leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522631
property_value: exactMatch NCIT:C8460
property_value: exactMatch Orphanet:98832

[Term]
id: MONDO:0005224
name: acute myeloblastic leukemia without maturation
def: "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:0000526"}
subset: ordo_disease {source="Orphanet:98833"}
synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute M1 myeloid leukemia" EXACT [NCIT:C3249]
synonym: "acute myeloblastic leukemia M1" EXACT [Orphanet:98833]
synonym: "acute myeloblastic leukemia type 1" RELATED [GARD:0000526]
synonym: "acute myelocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myelogenous leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myeloid leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myeloid leukemia without maturation (FAB M1)" EXACT [NCIT:C3249]
synonym: "AML M1" EXACT [Orphanet:98833]
synonym: "AML without maturation" EXACT [NCIT:C3249]
synonym: "AWM" RELATED [ONCOTREE:AWM]
synonym: "FAB M1" EXACT [NCIT:C3249]
synonym: "M1 acute granulocytic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute granulocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myeloblastic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myeloblastic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myelocytic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myelocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myelogenous leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myelogenous leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249]
xref: EFO:0003027 {source="MONDO:equivalentTo"}
xref: GARD:0000526 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="Orphanet:98833", source="ORDO:98833/ntbt"}
xref: ICDO:9873/3 {source="NCIT:C3249"}
xref: NCIT:C3249 {source="EFO:0003027", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:AWM {source="MONDO:equivalentTo"}
xref: Orphanet:98833 {source="MONDO:equivalentTo"}
xref: SCTID:359640008 {source="MONDO:equivalentTo"}
is_a: MONDO:0011118 {source="EFO:0003027"} ! bilineal acute myeloid leukemia
property_value: closeMatch http://identifiers.org/snomedct/103690005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026998
property_value: exactMatch http://identifiers.org/snomedct/359640008
property_value: exactMatch NCIT:C3249
property_value: exactMatch Orphanet:98833
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation xsd:anyURI {source="GARD:0000526"}

[Term]
id: MONDO:0005225
name: obsolete acute myeloblastic leukemia with maturation
is_obsolete: true
replaced_by: MONDO:0020320

[Term]
id: MONDO:0005226
name: obsolete acute basophilic leukemia
is_obsolete: true
replaced_by: MONDO:0019458

[Term]
id: MONDO:0005227
name: abscess
def: "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." [NCIT:P378]
xref: COHD:444202 {source="MONDO:equivalentTo"}
xref: EFO:0003030 {source="MONDO:equivalentTo"}
xref: ICD9:682.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000038 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003030"}
xref: NCIT:C26686 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0003030"}
xref: SCTID:128477000 {source="MONDO:equivalentTo", source="EFO:0003030", source="MONDO:kboom-pr-1.00/0.84/13.91"}
xref: UMLS:C0000833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26686"}
xref: Wikipedia:Abscess {source="EFO:0003030"}
is_a: MONDO:0005113 {source="EFO:0003030"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D000038
property_value: exactMatch http://identifiers.org/snomedct/128477000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000833
property_value: exactMatch NCIT:C26686

[Term]
id: MONDO:0005228
name: obsolete anaplastic large cell lymphoma
is_obsolete: true
replaced_by: MONDO:0020325

[Term]
id: MONDO:0005229
name: bacterial infectious disease with sepsis
def: "An infectious disease caused by bacteria causing sepsis." [MONDO:cjm]
synonym: "bacteremia" BROAD [MESH:D016470]
synonym: "Bacteremias" BROAD [MESH:D016470]
synonym: "bacterial sepsis" RELATED [DOID:0040085]
synonym: "symptomatic bacteremia" EXACT [MONDO:cjm]
xref: DOID:0040085 {source="MONDO:equivalentTo"}
xref: EFO:0003033 {source="MONDO:equivalentTo"}
xref: ICD9:790.7 {source="EFO:0003033"}
xref: MESH:D016470 {source="EFO:0003033", source="MONDO:equivalentTo"}
xref: SCTID:5758002 {source="EFO:0003033", source="MONDO:equivalentTo"}
xref: UMLS:C0004610 {source="MONDO:equivalentTo"}
xref: Wikipedia:Bacteremia {source="EFO:0003033"}
is_a: MONDO:0005113 {source="EFO:0003033", source="MESH:D016470", source="MONDO:Redundant", source="MONDOLEX:0005229"} ! bacterial infectious disease
property_value: exactMatch DOID:0040085
property_value: exactMatch http://identifiers.org/mesh/D016470
property_value: exactMatch http://identifiers.org/snomedct/5758002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004610
property_value: exactMatch NCIT:C102993

[Term]
id: MONDO:0005230
name: cellulitis (disease)
def: "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." [NCIT:C26715]
synonym: "cellulitis" EXACT [MONDO:ambiguous]
xref: COHD:435613 {source="MONDO:equivalentTo"}
xref: DOID:3488 {source="EFO:0003035", source="MONDO:equivalentTo"}
xref: EFO:0003035 {source="MONDO:equivalentTo"}
xref: HP:0100658 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L03.90 {source="DOID:3488"}
xref: ICD9:682.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002481 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26715 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:128045006 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Wikipedia:Cellulitis {source="EFO:0003035"}
is_a: MONDO:0006617 ! vesiculobullous skin disease
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/snomedct/156313004
property_value: closeMatch http://identifiers.org/snomedct/156317003
property_value: closeMatch http://identifiers.org/snomedct/191132005
property_value: closeMatch http://identifiers.org/snomedct/200693005
property_value: closeMatch http://identifiers.org/snomedct/267833003
property_value: closeMatch http://identifiers.org/snomedct/385627004
property_value: closeMatch http://identifiers.org/snomedct/62837005
property_value: closeMatch http://identifiers.org/snomedct/74276003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007642
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007646
property_value: closeMatch NCIT:C34454
property_value: exactMatch DOID:3488
property_value: exactMatch http://identifiers.org/mesh/D002481
property_value: exactMatch http://identifiers.org/snomedct/128045006
property_value: exactMatch NCIT:C26715

[Term]
id: MONDO:0005231
name: hepatitis C virus infection
def: "A viral infection caused by the hepatitis C virus." [NCIT:C3098]
synonym: "chronic hepatitis C" NARROW [DOID:1883]
synonym: "hepatitis C infection" EXACT [DOID:1883]
synonym: "Hepatitis C virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis C virus hepatitis" EXACT []
synonym: "hepatitis Nona nonB" EXACT [CSP2005:4000-0219, DOID:1883]
synonym: "hepatitis type C" EXACT [DOID:1883, MONDORULE:1]
synonym: "NANBH" EXACT [DOID:1883, NCIT:C3098]
synonym: "non-A, non-B Hepatitis" EXACT [NCIT:C3098]
synonym: "viral hepatitis C" EXACT [DOID:1883]
xref: DOID:1883 {source="MONDO:equivalentTo"}
xref: EFO:0003047 {source="DOID:1883", source="MONDO:equivalentTo"}
xref: ICD10:B19.2 {source="DOID:1883"}
xref: ICD10:B19.20 {source="DOID:1883"}
xref: ICD9:070.41 {source="EFO:0003047"}
xref: ICD9:070.54 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:070.7 {source="DOID:1883"}
xref: MESH:D006526 {source="DOID:1883", source="MONDO:equivalentTo"}
xref: NCIT:C3098 {source="EFO:0003047", source="DOID:1883", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:128302006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.19"}
xref: UMLS:C0019196 {source="DOID:1883", source="NCIT:C3098", source="MONDO:equivalentTo"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0006011 {source="EFO:0003047", source="MESH:D006526", source="MONDO:Redundant", source="MONDOLEX:0005231", source="NCIT:C3098/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! viral hepatitis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:1883", source="MONDO:Redundant"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/123324009
property_value: closeMatch http://identifiers.org/snomedct/154349000
property_value: closeMatch http://identifiers.org/snomedct/186634008
property_value: closeMatch http://identifiers.org/snomedct/186643004
property_value: closeMatch http://identifiers.org/snomedct/50711007
property_value: exactMatch DOID:1883
property_value: exactMatch http://identifiers.org/mesh/D006526
property_value: exactMatch http://identifiers.org/snomedct/128302006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019196
property_value: exactMatch NCIT:C3098

[Term]
id: MONDO:0005232
name: large cell carcinoma
def: "A malignant epithelial neoplasm composed of large, atypical cells." [NCIT:C3780]
synonym: "carcinoma, large cell" EXACT [NCIT:C3780]
synonym: "large cell carcinoma" EXACT [NCIT:C3780]
xref: DOID:4552 {source="MONDO:equivalentTo", source="EFO:0003050"}
xref: ICDO:8012/3 {source="NCIT:C3780"}
xref: MESH:D018287 {source="DOID:4552", source="MONDO:equivalentTo", source="EFO:0003050", source="MONDO:ontobio"}
xref: NCIT:C3780 {source="MONDO:CJM", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206704 {source="DOID:4552", source="NCIT:C3780", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="DOID:4552", source="MESH:D018287", source="MONDO:cjm", source="MONDOLEX:0005232", source="NCIT:C3780"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189551005
property_value: closeMatch http://identifiers.org/snomedct/22687000
property_value: exactMatch DOID:4552
property_value: exactMatch http://identifiers.org/mesh/D018287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206704
property_value: exactMatch NCIT:C3780

[Term]
id: MONDO:0005233
name: non-small cell lung carcinoma (disease)
def: "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." [NCIT:P378]
synonym: "non small cell lung cancer NOS" RELATED EXCLUDE [NCIT:C2926]
synonym: "non-small cell cancer of lung" EXACT [NCIT:C2926]
synonym: "non-small cell cancer of the lung" EXACT [NCIT:C2926]
synonym: "non-small cell carcinoma of lung" EXACT [NCIT:C2926]
synonym: "non-small cell carcinoma of the lung" EXACT [NCIT:C2926]
synonym: "non-small cell lung cancer" EXACT [DOID:3908, NCIT:C2926]
synonym: "non-small cell lung cancer, NOS" RELATED EXCLUDE [NCIT:C2926]
synonym: "non-small cell lung carcinoma" EXACT [MONDO:ambiguous, NCIT:C2926]
synonym: "NSCLC" EXACT [CSP2005:4005-0042, DOID:3908, NCIT:C2926]
synonym: "NSCLC - non-small cell lung cancer" EXACT [NCIT:C2926]
xref: DOID:3908 {source="MONDO:equivalentTo", source="EFO:0003060"}
xref: EFO:0003060 {source="DOID:3908", source="MONDO:equivalentTo"}
xref: HP:0030358 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C34 {source="DOID:3908"}
xref: KEGG:05223 {source="DOID:3908", source="MONDO:equivalentTo"}
xref: MESH:D002289 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060", source="MONDO:ontobio"}
xref: NCIT:C2926 {source="DOID:3908", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="EFO:0003060"}
xref: ONCOTREE:NSCLC {source="MONDO:equivalentTo"}
xref: SCTID:254637007 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"}
xref: UMLS:C0007131 {source="DOID:3908", source="MEDGEN:kboom-pr98-c99", source="NCIT:C2926", source="MONDO:equivalentTo"}
is_a: MONDO:0005138 {source="DOID:3908", source="EFO:0003060", source="MONDOLEX:0005233", source="NCIT:C2926"} ! lung carcinoma
property_value: exactMatch DOID:3908
property_value: exactMatch http://identifiers.org/mesh/D002289
property_value: exactMatch http://identifiers.org/snomedct/254637007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007131
property_value: exactMatch NCIT:C2926

[Term]
id: MONDO:0005234
name: obsolete polymyositis
is_obsolete: true
replaced_by: MONDO:0019127

[Term]
id: MONDO:0005235
name: smoldering plasma cell myeloma
def: "A plasma cell myeloma lacking clinical manifestations and organ impairment." [NCIT:C7149]
synonym: "asymptomatic myeloma" EXACT [NCIT:C7149]
synonym: "asymptomatic plasma cell myeloma" EXACT [NCIT:C7149]
synonym: "smoldering multiple myeloma" EXACT [NCIT:C7149]
synonym: "smoldering Multiple myeloma/plasma cell myeloma" EXACT [NCIT:C7149]
synonym: "smoldering myeloma" EXACT [DOID:9551, NCIT:C7149]
synonym: "smoldering plasma cell myeloma" EXACT [NCIT:C7149]
xref: DOID:9551 {source="MONDO:equivalentTo", source="EFO:0003073"}
xref: EFO:0003073 {source="MONDO:equivalentTo"}
xref: NCIT:C7149 {source="MONDO:equivalentTo", source="EFO:0003073"}
xref: SCTID:440422002 {source="MONDO:kboom-pr-0.99/0.73/5.05", source="MONDO:equivalentTo"}
is_a: MONDO:0009693 {source="DOID:9551", source="EFO:0003073", source="MONDOLEX:0005235", source="NCIT:C7149"} ! plasma cell myeloma
property_value: closeMatch http://identifiers.org/snomedct/413587002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1531608
property_value: exactMatch DOID:9551
property_value: exactMatch http://identifiers.org/snomedct/440422002
property_value: exactMatch NCIT:C7149

[Term]
id: MONDO:0005236
name: xanthoma (disease)
def: "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." [EFO:0003075]
synonym: "xanthoma" EXACT [MONDO:ambiguous]
xref: EFO:0003075 {source="MONDO:equivalentTo"}
xref: HP:0001114 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C4071 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0003075"}
is_a: MONDO:0005066 {source="EFO:0003075"} ! metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302314
property_value: exactMatch NCIT:C4071

[Term]
id: MONDO:0005237
name: obsolete pleomorphic liposarcoma
is_obsolete: true
replaced_by: MONDO:0020562

[Term]
id: MONDO:0005238
name: round cell liposarcoma
def: "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." [NCIT:C4252]
synonym: "cellular myxoid liposarcoma" EXACT [DOID:5692, NCIT:C4252]
synonym: "round cell liposarcoma" EXACT [NCIT:C4252]
synonym: "round cell liposarcoma (morphologic abnormality)" EXACT [DOID:5692]
xref: DOID:5692 {source="MONDO:equivalentTo", source="EFO:0003084"}
xref: EFO:0003084 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8853/3 {source="NCIT:C4252"}
xref: NCIT:C4252 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5692", source="EFO:0003084"}
xref: SCTID:404070007 {source="MONDO:equivalentTo", source="DOID:5692", source="EFO:0003084", source="MONDO:kboom-pr-1.00/0.91/29.31"}
xref: UMLS:C0334471 {source="NCIT:C4252", source="MONDO:equivalentTo", source="DOID:5692"}
is_a: MONDO:0020561 ! myxoid/round cell liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/43296007
property_value: exactMatch DOID:5692
property_value: exactMatch http://identifiers.org/snomedct/404070007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334471
property_value: exactMatch NCIT:C4252

[Term]
id: MONDO:0005239
name: obsolete dedifferentiated liposarcoma
is_obsolete: true
replaced_by: MONDO:0020563

[Term]
id: MONDO:0005240
name: kidney disease
def: "A disease involving the kidney." [MONDO:DesignPattern]
synonym: "disease of kidney" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of kidney" EXACT []
synonym: "disorder of kidney" EXACT [MONDO:patterns/location_top]
synonym: "disorder of kidney" RELATED [MONDO:patterns/location_top]
synonym: "kidney disease" EXACT [MONDO:patterns/location]
synonym: "kidney disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "kidney disorder" EXACT [NCIT:C3149]
synonym: "nephropathy" EXACT [DOID:557]
synonym: "renal disease" EXACT [NCIT:C3149]
synonym: "renal disorder" EXACT [NCIT:C3149]
xref: DOID:557 {source="MONDO:equivalentTo", source="EFO:0003086"}
xref: EFO:0003086 {source="DOID:557", source="MONDO:equivalentTo"}
xref: ICD10:N08 {source="DOID:557"}
xref: ICD10:N28.9 {source="DOID:557"}
xref: ICD9:583.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007674 {source="DOID:557", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003086"}
xref: NCIT:C3149 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"}
xref: SCTID:90708001 {source="DOID:557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.69/0.31", source="EFO:0003086"}
xref: UMLS:C0022658 {source="DOID:557", source="MONDO:equivalentTo"}
is_a: MONDO:0002118 {source="DOID:557", source="MESH:D007674", source="MONDO:Redundant", source="NCIT:C3149", source="linkedlifedata/inferred"} ! urinary system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/155871008
property_value: closeMatch http://identifiers.org/snomedct/266612003
property_value: closeMatch http://identifiers.org/snomedct/266624005
property_value: closeMatch http://identifiers.org/snomedct/266627003
property_value: closeMatch http://identifiers.org/snomedct/274108006
property_value: closeMatch NCIT:C34843
property_value: exactMatch DOID:557
property_value: exactMatch http://identifiers.org/mesh/D007674
property_value: exactMatch http://identifiers.org/snomedct/90708001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022658
property_value: exactMatch NCIT:C3149

[Term]
id: MONDO:0005241
name: obsolete adrenocortical carcinoma (disease)
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0005242
name: empyema
def: "An accumulation of pus in a body cavity, usually the pleural space." [NCIT:C34572]
synonym: "collection of pus" RELATED []
xref: EFO:0003097 {source="MONDO:equivalentTo"}
xref: ICD9:510 {source="EFO:0003097"}
xref: MESH:D004653 {source="MONDO:equivalentTo", source="EFO:0003097"}
xref: NCIT:C34572 {source="MONDO:kboom-pr-0.92/0.80/0.56", source="MONDO:equivalentTo", source="EFO:0003097"}
xref: SCTID:312682007 {source="MONDO:kboom-pr-0.91/0.77/0.60", source="MONDO:equivalentTo", source="EFO:0003097"}
is_a: MONDO:0005113 {source="EFO:0003097", source="NCIT:C34572"} ! bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/66696003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014009
property_value: exactMatch http://identifiers.org/mesh/D004653
property_value: exactMatch http://identifiers.org/snomedct/312682007
property_value: exactMatch NCIT:C34572

[Term]
id: MONDO:0005243
name: obsolete Cushing syndrome
is_obsolete: true
replaced_by: MONDO:0018912

[Term]
id: MONDO:0005244
name: peripheral neuropathy
def: "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." [NCIT:C119734]
comment: Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20
synonym: "neuropathy" EXACT [MONDO:0005337, NCIT:C4731]
synonym: "peripheral nerve disorder" EXACT [NCIT:C119734]
synonym: "peripheral neuropathy" EXACT [DOID:870, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20]
xref: DOID:870 {source="EFO:0004149", source="MONDO:equivalentTo"}
xref: EFO:0003100 {source="MONDO:equivalentTo"}
xref: EFO:0004149 {source="MONDO:equivalentTo"}
xref: ICD10:G62.9 {source="DOID:870"}
xref: MedDRA:10034606 {source="EFO:0003100"}
xref: NCIT:C119734 {source="EFO:0003100", source="MONDO:equivalentTo"}
xref: NCIT:C4731 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"}
xref: SCTID:386033004 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"}
xref: UMLS:C0442874 {source="MONDO:equivalentTo", source="NCIT:C4731", source="DOID:870"}
is_a: MONDO:0003620 {source="DOID:870", source="MONDOLEX:0005244", source="NCIT:C119734", source="NCIT:C119734/inferred", source="NCIT:C4731"} ! peripheral nervous system disease
property_value: closeMatch DOID:0060053
property_value: closeMatch http://identifiers.org/meddra/10034606
property_value: closeMatch http://identifiers.org/snomedct/193167000
property_value: closeMatch http://identifiers.org/snomedct/264554005
property_value: closeMatch http://identifiers.org/snomedct/277317008
property_value: closeMatch http://identifiers.org/snomedct/277878001
property_value: exactMatch DOID:870
property_value: exactMatch http://identifiers.org/snomedct/386033004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0442874
property_value: exactMatch NCIT:C119734
property_value: exactMatch NCIT:C4731

[Term]
id: MONDO:0005245
name: obsolete testicular seminoma (disease)
is_obsolete: true
replaced_by: MONDO:0003669

[Term]
id: MONDO:0005246
name: osteomyelitis (disease)
def: "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." [NCIT:P378]
synonym: "osteomyelitis" EXACT [MONDO:ambiguous]
xref: COHD:141663 {source="MONDO:equivalentTo"}
xref: DOID:1019 {source="EFO:0003102", source="MONDO:equivalentTo"}
xref: EFO:0003102 {source="MONDO:equivalentTo"}
xref: GARD:0007286 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0002754 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:730.0 {source="EFO:0003102"}
xref: ICD9:730.01 {source="DOID:1019"}
xref: ICD9:730.1 {source="EFO:0003102", source="DOID:1019"}
xref: ICD9:730.10 {source="DOID:1019"}
xref: ICD9:730.11 {source="DOID:1019"}
xref: ICD9:730.20 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:730.28 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:730.92 {source="EFO:0003102"}
xref: ICD9:730.93 {source="EFO:0003102"}
xref: ICD9:730.94 {source="EFO:0003102"}
xref: ICD9:730.96 {source="EFO:0003102"}
xref: ICD9:730.97 {source="EFO:0003102"}
xref: MESH:D010019 {source="EFO:0003102", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27577 {source="EFO:0003102", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:60168000 {source="EFO:0003102", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0029443 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27577"}
is_a: MONDO:0002614 {source="DOID:1019", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease
is_a: MONDO:0003225 ! bone marrow disease
relationship: excluded_subClassOf MONDO:0005113 {source="EFO:0003102"} ! bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/156791003
property_value: closeMatch http://identifiers.org/snomedct/156800002
property_value: closeMatch http://identifiers.org/snomedct/203181001
property_value: closeMatch http://identifiers.org/snomedct/203183003
property_value: closeMatch http://identifiers.org/snomedct/203205002
property_value: closeMatch http://identifiers.org/snomedct/40970001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008707
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158372
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158381
property_value: exactMatch DOID:1019
property_value: exactMatch http://identifiers.org/mesh/D010019
property_value: exactMatch http://identifiers.org/snomedct/60168000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029443
property_value: exactMatch NCIT:C27577

[Term]
id: MONDO:0005247
name: urinary tract infection (disease)
def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [NCIT:P378]
synonym: "infection, urinary tract" EXACT [NCIT:C50791]
synonym: "tract, infection Of urinary" EXACT [NCIT:C50791]
synonym: "urinary tract infection" EXACT [MONDO:ambiguous]
synonym: "urinary tract infectious disease" EXACT [NCIT:C50791]
synonym: "UTI" EXACT [NCIT:C50791]
xref: EFO:0003103 {source="MONDO:equivalentTo"}
xref: ICD9:599.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C50791 {source="EFO:0003103", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.87"}
xref: SCTID:68566005 {source="MONDO:kboom-pr-0.80/0.42/0.91", source="MONDO:equivalentTo"}
is_a: MONDO:0002118 ! urinary system disease
is_a: MONDO:0005113 {source="EFO:0003103", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042029
property_value: exactMatch http://identifiers.org/snomedct/68566005
property_value: exactMatch NCIT:C50791

[Term]
id: MONDO:0005249
name: pneumonia
def: "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." [NCIT:P378]
synonym: "acute pneumonia" NARROW [DOID:552]
xref: COHD:255848 {source="MONDO:equivalentTo"}
xref: DOID:552 {source="EFO:0003106", source="MONDO:equivalentTo"}
xref: EFO:0003106 {source="MONDO:equivalentTo"}
xref: ICD10:J15 {source="MONDO:equivalentTo"}
xref: ICD9:483 {source="EFO:0003106"}
xref: ICD9:483.8 {source="EFO:0003106"}
xref: ICD9:484.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:486 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011014 {source="EFO:0003106", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:552"}
xref: NCIT:C3333 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: SCTID:233604007 {source="EFO:0003106", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:552"}
xref: UMLS:C0032285 {source="MONDO:equivalentTo", source="NCIT:C3333", source="DOID:552"}
is_a: MONDO:0024355 ! respiratory tract infectious disease
is_a: MONDO:0043905 {source="https://github.com/monarch-initiative/mondo/issues/1439", source="https://www.mayoclinic.org/diseases-conditions/pneumonitis/symptoms-causes/syc-20352623"} ! pneumonitis
relationship: excluded_subClassOf MONDO:0005275 {source="DOID:552", source="MESH:D011014", source="MONDO:Redundant", source="NCIT:C3333/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: closeMatch http://identifiers.org/snomedct/155548002
property_value: closeMatch http://identifiers.org/snomedct/155552002
property_value: closeMatch http://identifiers.org/snomedct/155558003
property_value: closeMatch http://identifiers.org/snomedct/266391003
property_value: closeMatch http://identifiers.org/snomedct/274103002
property_value: closeMatch http://identifiers.org/snomedct/60363000
property_value: exactMatch DOID:552
property_value: exactMatch http://identifiers.org/mesh/D011014
property_value: exactMatch http://identifiers.org/snomedct/233604007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032285
property_value: exactMatch NCIT:C3333

[Term]
id: MONDO:0005250
name: placental villitis
def: "Inflammatory process that involves the chorionic villi (villitis) of the placenta." [EFO:0003110]
xref: EFO:0003110 {source="MONDO:equivalentTo"}
xref: SCTID:388604008 {source="EFO:0003110", source="MONDO:equivalentTo"}
xref: UMLS:C1270169 {source="MONDO:equivalentTo"}
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0045013 ! disease of extraembryonic membrane
property_value: exactMatch http://identifiers.org/snomedct/388604008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1270169

[Term]
id: MONDO:0005251
name: obsolete pauciarticular juvenile rheumatoid arthritis
def: "A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." [EFO:0003114]
xref: EFO:0003114 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:M08.4 {source="MONDO:equivalentTo"}
xref: ICD9:714.32 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:74391003 {source="EFO:0003114", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.82/0.66"}
property_value: exactMatch http://identifiers.org/snomedct/74391003
is_obsolete: true

[Term]
id: MONDO:0005252
name: heart failure
def: "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." [EFO:0003144]
synonym: "cardiac failure" EXACT [NCIT:C50577]
synonym: "cardiac insufficiency" EXACT [NCIT:C50577]
synonym: "failure, heart" EXACT [NCIT:C50577]
synonym: "heart failure" EXACT [https://en.wikipedia.org/wiki/Heart_failure]
synonym: "insufficiency, Cardiac" EXACT [NCIT:C50577]
xref: COHD:316139 {source="MONDO:equivalentTo"}
xref: EFO:0003144 {source="MONDO:equivalentTo"}
xref: ICD9:428 {source="EFO:0003144"}
xref: ICD9:428.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006333 {source="EFO:0003144", source="MONDO:equivalentTo"}
xref: NCIT:C50577 {source="EFO:0003144", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.79/4.07"}
xref: SCTID:84114007 {source="EFO:0003144", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:CN236639 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MESH:D006333", source="NCIT:C50577/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018801
property_value: exactMatch http://identifiers.org/mesh/D006333
property_value: exactMatch http://identifiers.org/snomedct/84114007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236639
property_value: exactMatch NCIT:C50577

[Term]
id: MONDO:0005253
name: high output heart failure
def: "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." [EFO:0003145]
xref: EFO:0003145 {source="MONDO:equivalentTo"}
xref: SCTID:10091002 {source="EFO:0003145", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0221045 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: Wikipedia:High-output_cardiac_failure {source="EFO:0003145"}
is_a: MONDO:0005252 {source="EFO:0003145", source="linkedlifedata"} ! heart failure
property_value: exactMatch http://identifiers.org/snomedct/10091002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221045

[Term]
id: MONDO:0005254
name: symptomatic heart failure
def: "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" [EFO:0003146]
xref: EFO:0003146 {source="MONDO:equivalentTo"}
is_a: MONDO:0005252 {source="EFO:0003146"} ! heart failure

[Term]
id: MONDO:0005255
name: mild heart failure
def: "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." [EFO:0003147]
xref: EFO:0003147 {source="MONDO:equivalentTo"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003147"}
is_a: MONDO:0005254 {source="EFO:0003147"} ! symptomatic heart failure

[Term]
id: MONDO:0005256
name: moderate heart failure
def: "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest." [EFO:0003148]
xref: EFO:0003148 {source="MONDO:equivalentTo"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003148"}
is_a: MONDO:0005254 {source="EFO:0003148"} ! symptomatic heart failure

[Term]
id: MONDO:0005257
name: advanced heart failure
def: "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." [EFO:0003149]
xref: EFO:0003149 {source="MONDO:equivalentTo"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003149"}
is_a: MONDO:0005254 {source="EFO:0003149"} ! symptomatic heart failure

[Term]
id: MONDO:0005258
name: autism spectrum disorder
def: "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." [NCIT:P378]
synonym: "autistic spectrum disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pervasive developmental disorders" EXACT [NCIT:C88412]
xref: COHD:439776 {source="MONDO:equivalentTo"}
xref: DOID:0060041 {source="MONDO:equivalentTo", source="EFO:0003756"}
xref: EFO:0003756 {source="MONDO:equivalentTo"}
xref: NCIT:C88412 {source="MONDO:kboom-pr-0.95/0.78/1.71", source="MONDO:equivalentTo", source="EFO:0003756"}
is_a: MONDO:0000594 {source="DOID:0060041", source="NCIT:C88412"} ! pervasive developmental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510586
property_value: exactMatch DOID:0060041
property_value: exactMatch NCIT:C88412

[Term]
id: MONDO:0005259
name: Asperger syndrome
def: "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." [NCIT:C97159]
comment: The name Aspergers is controversial, however, it seems to be the community accepted name. {xref="https://github.com/monarch-initiative/mondo/issues/705", xref="https://blogs.scientificamerican.com/observations/the-problem-with-aspergers/", xref="https://github.com/EBISPOT/efo/issues/275"}
synonym: "asperger syndrome, susceptibility to" NARROW [OMIMPS:608638]
synonym: "ASPG" BROAD []
synonym: "autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language" EXACT [https://github.com/monarch-initiative/mondo/issues/705]
xref: DOID:0050432 {source="MONDO:equivalentTo", source="EFO:0003757"}
xref: EFO:0003757 {source="MONDO:equivalentTo"}
xref: GARD:0005855 {source="MONDO:equivalentTo"}
xref: ICD10:F84.5 {source="DOID:0050432"}
xref: MESH:D020817 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757", source="MONDO:ontobio"}
xref: NCIT:C97159 {source="DOID:0050432", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0003757"}
xref: OMIMPS:608638 {source="MONDO:equivalentTo"}
xref: SCTID:23560001 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"}
is_a: MONDO:0005258 {source="DOID:0050432", source="EFO:0003757", source="NCIT:C97159"} ! autism spectrum disorder
property_value: closeMatch http://identifiers.org/snomedct/154879004
property_value: closeMatch http://identifiers.org/snomedct/192586006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236792
property_value: closeMatch Orphanet:1162
property_value: exactMatch DOID:0050432
property_value: exactMatch http://identifiers.org/mesh/D020817
property_value: exactMatch http://identifiers.org/snomedct/23560001
property_value: exactMatch NCIT:C97159

[Term]
id: MONDO:0005260
name: autism (disease)
def: "A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years." [NCIT:P378]
synonym: "autism" EXACT [DOID:12849, MONDO:ambiguous, OMIM:209850]
synonym: "autism spectrum disorder" RELATED [OMIM:209850]
synonym: "autism, susceptiblity to" NARROW [OMIMPS:209850]
synonym: "autistic disorder" RELATED [OMIM:209850]
synonym: "autistic disorder of childhood onset" EXACT [DOID:12849]
synonym: "childhood autism" EXACT [DOID:12849]
synonym: "infantile autism" EXACT [DOID:12849]
synonym: "Kanner's syndrome" EXACT [DOID:12849, MTHICD9_2006:299.0]
xref: DOID:12849 {source="MONDO:equivalentTo", source="EFO:0003758"}
xref: EFO:0003758 {source="DOID:12849", source="MONDO:equivalentTo"}
xref: HP:0000717 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F84.0 {source="DOID:12849"}
xref: ICD9:299.0 {source="DOID:12849", source="EFO:0003758"}
xref: MESH:D001321 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758"}
xref: NCIT:C97161 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758", source="MONDO:kboom-pr-0.92/0.68/1.71"}
xref: OMIMPS:209850 {source="MONDO:equivalentTo"}
is_a: MONDO:0005258 {source="DOID:12849", source="EFO:0003758", source="MONDOLEX:0005260", source="NCIT:C97161"} ! autism spectrum disorder
property_value: closeMatch http://identifiers.org/snomedct/154878007
property_value: closeMatch http://identifiers.org/snomedct/191688000
property_value: closeMatch http://identifiers.org/snomedct/191691000
property_value: closeMatch http://identifiers.org/snomedct/192581001
property_value: closeMatch http://identifiers.org/snomedct/271450003
property_value: closeMatch http://identifiers.org/snomedct/34883005
property_value: closeMatch http://identifiers.org/snomedct/38763009
property_value: closeMatch http://identifiers.org/snomedct/408856003
property_value: closeMatch http://identifiers.org/snomedct/408857007
property_value: closeMatch http://identifiers.org/snomedct/43614003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004352
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510586
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968924
property_value: closeMatch Orphanet:106
property_value: exactMatch DOID:12849
property_value: exactMatch http://identifiers.org/mesh/D001321
property_value: exactMatch NCIT:C97161

[Term]
id: MONDO:0005261
name: pervasive developmental disorder - not otherwise specified
def: "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." [DOID:0060042, http://counsellingresource.com/distress/autistic/autism-atypical.html, http://www.neurodevnet.ca, http://www.wisegeek.com/what-is-atypical-autism.htm]
synonym: "atypical autism" RELATED [DOID:0060042]
synonym: "PDD" EXACT [DOID:0060042]
xref: DOID:0060042 {source="MONDO:equivalentTo", source="EFO:0003759"}
xref: EFO:0003759 {source="MONDO:equivalentTo"}
is_a: MONDO:0005258 {source="DOID:0060042", source="EFO:0003759"} ! autism spectrum disorder
property_value: exactMatch DOID:0060042

[Term]
id: MONDO:0005262
name: central nervous system cyst (disease)
def: "A congenital or acquired cyst that is present in the central nervous system." [NCIT:P378]
synonym: "central nervous system cyst" EXACT [MONDO:ambiguous]
synonym: "cleft cysts, Rathke's" RELATED [MESH:D020863]
synonym: "CNS cyst" EXACT [NCIT:C4657]
synonym: "cyst of Central nervous system" EXACT [NCIT:C4657]
synonym: "cyst of CNS" EXACT [NCIT:C4657]
synonym: "cyst of the Central nervous system" EXACT [NCIT:C4657]
synonym: "cyst of the CNS" EXACT [NCIT:C4657]
synonym: "cyst, suprasellar" RELATED [MESH:D020863]
synonym: "cysts, central nervous system" RELATED [MESH:D020863]
synonym: "cysts, Rathke cleft" RELATED [MESH:D020863]
synonym: "cysts, suprasellar" RELATED [MESH:D020863]
synonym: "Rathke cleft cysts" RELATED [MESH:D020863]
synonym: "Rathke's cleft cysts" RELATED [MESH:D020863]
synonym: "Rathkes cleft cysts" RELATED [MESH:D020863]
synonym: "suprasellar cyst" RELATED [MESH:D020863]
synonym: "suprasellar cysts" RELATED [MESH:D020863]
xref: EFO:0003760 {source="MONDO:equivalentTo"}
xref: HP:0030724 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D020863 {source="EFO:0003760", source="MONDO:equivalentTo"}
xref: NCIT:C4657 {source="EFO:0003760", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:277333006 {source="EFO:0003760", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0349606 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
property_value: exactMatch http://identifiers.org/mesh/D020863
property_value: exactMatch http://identifiers.org/snomedct/277333006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349606
property_value: exactMatch NCIT:C4657

[Term]
id: MONDO:0005263
name: unipolar depression
def: "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." [NCIT:P378]
synonym: "major depression" EXACT [NCIT:C35094]
synonym: "major depressive disorder" EXACT [NCIT:C35094]
xref: EFO:0003761 {source="MONDO:equivalentTo"}
xref: NCIT:C35094 {source="EFO:0003761", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.12"}
is_a: MONDO:0002050 {source="NCIT:C35094"} ! depressive disorder
property_value: closeMatch http://identifiers.org/mesh/D003863
property_value: closeMatch http://identifiers.org/snomedct/321717001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1269683
property_value: exactMatch NCIT:C35094

[Term]
id: MONDO:0005264
name: transient ischemic attack (disease)
def: "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." [NCIT:C50781]
synonym: "attack, transient ischemic" EXACT [NCIT:C50781]
synonym: "ischemic attack, transient" EXACT [NCIT:C50781]
synonym: "TIA" EXACT [CSP2005:4001-0136, DOID:224, MTHICD9_2006:435.9, NCIT:C50781]
synonym: "TIA - transient ischaemic attack" EXACT [DOID:224]
synonym: "transient cerebral ischaemia" EXACT [DOID:224]
synonym: "transient cerebral ischaemia NOS" RELATED EXCLUDE [DOID:224]
synonym: "transient cerebral ischemia" RELATED [DOID:224]
synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [DOID:224]
synonym: "transient ischemic attack" EXACT [DOID:224, MONDO:ambiguous, MTH:NOCODE, NCIT:C50781]
synonym: "transient ischemic attacks" EXACT [NCIT:C50781]
xref: DOID:224 {source="EFO:0003764", source="MONDO:equivalentTo"}
xref: EFO:0003764 {source="MONDO:equivalentTo"}
xref: HP:0002326 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G45.9 {source="DOID:224"}
xref: ICD9:435 {source="EFO:0003764"}
xref: ICD9:435.8 {source="MONDO:relatedTo", source="i2s", source="DOID:224"}
xref: ICD9:435.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002546 {source="EFO:0003764", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:224"}
xref: NCIT:C50781 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:266257000 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224", source="MONDO:kboom-pr-1.00/0.79/8.40"}
is_a: MONDO:0005299 {source="DOID:224", source="MESH:D002546", source="MONDO:Redundant", source="NCIT:C50781"} ! brain ischemia
property_value: closeMatch http://identifiers.org/snomedct/155404005
property_value: closeMatch http://identifiers.org/snomedct/195196001
property_value: closeMatch http://identifiers.org/snomedct/195207009
property_value: closeMatch http://identifiers.org/snomedct/266314007
property_value: closeMatch http://identifiers.org/snomedct/313242003
property_value: closeMatch http://identifiers.org/snomedct/38609002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007787
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155728
property_value: exactMatch DOID:224
property_value: exactMatch http://identifiers.org/mesh/D002546
property_value: exactMatch http://identifiers.org/snomedct/266257000
property_value: exactMatch NCIT:C50781

[Term]
id: MONDO:0005265
name: inflammatory bowel disease
def: "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." [NCIT:C3138]
synonym: "autoimmune bowel disorder" EXACT [NCIT:C3138]
synonym: "IBD" EXACT [NCIT:C3138]
synonym: "inflammatory bowel disease" EXACT [NCIT:C3138]
xref: DOID:0050589 {source="MONDO:equivalentTo", source="EFO:0003767"}
xref: EFO:0003767 {source="MONDO:equivalentTo", source="DOID:0050589"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:05321 {source="MONDO:equivalentTo", source="DOID:0050589"}
xref: MESH:D015212 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767", source="MONDO:ontobio"}
xref: NCIT:C3138 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"}
xref: OMIMPS:266600 {source="MONDO:equivalentTo", source="DOID:0050589"}
xref: SCTID:24526004 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0021390 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0050589", source="NCIT:C3138"}
is_a: MONDO:0005020 {source="DOID:0050589", source="EFO:0003767", source="MESH:D015212", source="NCIT:C3138/inferred"} ! intestinal disease
is_a: MONDO:0005046 ! immune system disease
property_value: closeMatch http://identifiers.org/snomedct/155759008
property_value: closeMatch http://identifiers.org/snomedct/196974002
property_value: closeMatch http://identifiers.org/snomedct/266516008
property_value: exactMatch DOID:0050589
property_value: exactMatch http://identifiers.org/mesh/D015212
property_value: exactMatch http://identifiers.org/snomedct/24526004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021390
property_value: exactMatch NCIT:C3138

[Term]
id: MONDO:0005266
name: diabetic retinopathy
def: "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." [NCIT:P378]
synonym: "retinal abnormality - diabetes-related" EXACT [DOID:8947]
xref: COHD:4174977 {source="MONDO:equivalentTo"}
xref: DOID:8947 {source="EFO:0003770", source="MONDO:equivalentTo"}
xref: EFO:0003770 {source="MONDO:equivalentTo"}
xref: ICD10:H36.0 {source="MONDO:equivalentTo"}
xref: ICD9:362.0 {source="EFO:0003770", source="DOID:8947"}
xref: MESH:D003930 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34538 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:4855003 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"}
xref: UMLS:C0011884 {source="DOID:8947", source="MONDO:equivalentTo", source="NCIT:C34538"}
is_a: MONDO:0002311 {source="DOID:8947", source="NCIT:C34538"} ! retinal vascular disease
is_a: MONDO:0005066 {source="EFO:0003770", source="MESH:D003930/inferred", source="linkedlifedata/inferred"} ! metabolic disease
intersection_of: MONDO:0005283 ! retinal disease
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
relationship: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
property_value: closeMatch http://identifiers.org/snomedct/141196007
property_value: closeMatch http://identifiers.org/snomedct/154678005
property_value: closeMatch http://identifiers.org/snomedct/155107006
property_value: closeMatch http://identifiers.org/snomedct/163997001
property_value: closeMatch http://identifiers.org/snomedct/193353002
property_value: closeMatch http://identifiers.org/snomedct/267471001
property_value: closeMatch http://identifiers.org/snomedct/309595004
property_value: exactMatch DOID:8947
property_value: exactMatch http://identifiers.org/mesh/D003930
property_value: exactMatch http://identifiers.org/snomedct/4855003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011884
property_value: exactMatch NCIT:C34538

[Term]
id: MONDO:0005267
name: heart disease
def: "A disease involving the heart and/or pericardium." [MONDO:DesignPattern]
synonym: "cardiac disease" EXACT [DOID:114]
synonym: "disease of heart" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of heart" EXACT []
synonym: "disorder of heart" EXACT [MONDO:patterns/location_top]
synonym: "disorder of heart/pericardium" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart disease" EXACT [MONDO:patterns/location, NCIT:C3079]
synonym: "heart disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "heart disorder" EXACT [NCIT:C3079]
synonym: "heart trouble" EXACT [NCIT:C3079]
synonym: "heart/pericardial disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial disease or disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial trouble" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
xref: COHD:321588 {source="MONDO:equivalentTo"}
xref: DOID:114 {source="EFO:0003777", source="MONDO:equivalentTo"}
xref: EFO:0003777 {source="MONDO:equivalentTo"}
xref: ICD10:I51.9 {source="DOID:114"}
xref: ICD9:429.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:429.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:114"}
xref: ICD9:V47.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006331 {source="EFO:0003777", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:114"}
xref: NCIT:C3079 {source="MONDO:equivalentTo", source="DOID:114", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:56265001 {source="EFO:0003777", source="MONDO:equivalentTo", source="DOID:114", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018799 {source="MONDO:equivalentTo", source="NCIT:C3079", source="DOID:114"}
xref: UMLS:CN236661 {source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo"}
xref: UMLS:CN239852 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000651 {source="MONDO:Redundant", source="NCIT:C3079", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! thoracic disease
is_a: MONDO:0004995 {source="DOID:114", source="EFO:0003777", source="MESH:D006331", source="MONDO:Redundant", source="NCIT:C3079", source="linkedlifedata"} ! cardiovascular disease
property_value: closeMatch http://identifiers.org/snomedct/155263000
property_value: closeMatch http://identifiers.org/snomedct/194707003
property_value: closeMatch http://identifiers.org/snomedct/195152001
property_value: closeMatch http://identifiers.org/snomedct/266275004
property_value: closeMatch http://identifiers.org/snomedct/266311004
property_value: exactMatch DOID:114
property_value: exactMatch http://identifiers.org/mesh/D006331
property_value: exactMatch http://identifiers.org/snomedct/56265001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018799
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236661
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239852
property_value: exactMatch NCIT:C3079

[Term]
id: MONDO:0005268
name: obsolete Hashimoto's thyroiditis
is_obsolete: true
replaced_by: MONDO:0007699

[Term]
id: MONDO:0005269
name: carotid artery disease
def: "A disease involving the carotid artery segment." [MONDO:DesignPattern]
synonym: "carotid artery disorder" EXACT [NCIT:C84476]
synonym: "carotid artery segment disease" EXACT [MONDO:patterns/location]
synonym: "carotid artery segment disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of carotid artery segment" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of carotid artery segment" EXACT []
synonym: "disorder of carotid artery" EXACT [DOID:3407]
synonym: "disorder of carotid artery segment" EXACT [MONDO:patterns/location_top]
synonym: "disorder of carotid artery segment" RELATED [MONDO:patterns/location_top]
xref: DOID:3407 {source="EFO:0003781", source="MONDO:equivalentTo"}
xref: EFO:0003781 {source="MONDO:equivalentTo"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002340 {source="EFO:0003781", source="MONDO:equivalentTo", source="DOID:3407", source="MONDO:ontobio"}
xref: NCIT:C84476 {source="EFO:0003781", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64", source="DOID:3407"}
xref: SCTID:371160000 {source="MONDO:equivalentTo", source="DOID:3407", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007273 {source="MONDO:equivalentTo", source="DOID:3407", source="NCIT:C84476"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0011057 {source="DOID:3407", source="MESH:D002340"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/300920004
property_value: exactMatch DOID:3407
property_value: exactMatch http://identifiers.org/mesh/D002340
property_value: exactMatch http://identifiers.org/snomedct/371160000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007273
property_value: exactMatch NCIT:C84476

[Term]
id: MONDO:0005270
name: obsolete motor neuron disease
is_obsolete: true
replaced_by: MONDO:0020128

[Term]
id: MONDO:0005271
name: allergic disease
def: "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." [NCIT:C114476]
synonym: "allergic disease or disorder" EXACT []
synonym: "allergic form of disease or disorder" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of immune system disease" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic hypersensitivity disease" RELATED [DOID:1205]
synonym: "allergic reaction" EXACT [NCIT:C114476]
synonym: "allergic response" EXACT [NCIT:C114476]
synonym: "allergy" EXACT [DOID:1205, NCIT:C114476]
synonym: "disorder of type I hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of type I hypersensitivity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "hypersensitivity" RELATED [DOID:1205]
synonym: "hypersensitivity reaction type I disease" EXACT [DOID:1205]
synonym: "type I hypersensitivity disease" EXACT [MONDO:design_pattern]
xref: DOID:1205 {source="EFO:0003785", source="MONDO:equivalentTo"}
xref: EFO:0003785 {source="MONDO:equivalentTo"}
xref: ICD10:T78.40 {source="DOID:1205"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:V15.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006967 {source="EFO:0003785", source="MONDO:equivalentTo", source="DOID:1205", source="MONDO:ontobio"}
xref: NCIT:C114476 {source="EFO:0003785", source="MONDO:equivalentTo"}
xref: SCTID:609328004 {source="MONDO:kboom-pr-1.00/0.74/5.91", source="MONDO:equivalentTo"}
xref: UMLS:C1527304 {source="MONDO:equivalentTo", source="NCIT:C114476"}
is_a: MONDO:0000605 {source="DOID:1205", source="MONDO:Entailed", source="NCIT:C114476", source="linkedlifedata/inferred"} ! hypersensitivity reaction disease
disjoint_from: MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/106190000
property_value: closeMatch http://identifiers.org/snomedct/127072000
property_value: closeMatch http://identifiers.org/snomedct/157754004
property_value: closeMatch http://identifiers.org/snomedct/157758001
property_value: closeMatch http://identifiers.org/snomedct/212998004
property_value: closeMatch http://identifiers.org/snomedct/212999007
property_value: closeMatch http://identifiers.org/snomedct/21957007
property_value: closeMatch http://identifiers.org/snomedct/257550005
property_value: closeMatch http://identifiers.org/snomedct/269284003
property_value: closeMatch http://identifiers.org/snomedct/269432007
property_value: closeMatch http://identifiers.org/snomedct/274211000
property_value: closeMatch http://identifiers.org/snomedct/282092005
property_value: closeMatch http://identifiers.org/snomedct/418168000
property_value: closeMatch http://identifiers.org/snomedct/418634005
property_value: closeMatch http://identifiers.org/snomedct/418925002
property_value: closeMatch http://identifiers.org/snomedct/419076005
property_value: closeMatch http://identifiers.org/snomedct/421668005
property_value: closeMatch http://identifiers.org/snomedct/421961002
property_value: closeMatch http://identifiers.org/snomedct/91232002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020517
property_value: exactMatch DOID:1205
property_value: exactMatch http://identifiers.org/mesh/D006967
property_value: exactMatch http://identifiers.org/snomedct/609328004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527304
property_value: exactMatch NCIT:C114476

[Term]
id: MONDO:0005272
name: refractory anemia
def: "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" [NCIT:C2872]
subset: ordo_disease {source="Orphanet:98826"}
synonym: "aregenerative anemia" EXACT [NCIT:C2872]
synonym: "RA" EXACT [NCIT:C2872]
xref: EFO:0003802 {source="MONDO:equivalentTo"}
xref: ICD10:D46.7 {source="ORDO:98826/ntbt", source="Orphanet:98826"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9980/3 {source="NCIT:C2872"}
xref: MedDRA:10038269 {source="ORDO:98826/e", source="Orphanet:98826"}
xref: MESH:D000753 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="Orphanet:98826", source="MONDO:ontobio"}
xref: NCIT:C2872 {source="MONDO:equivalentTo", source="EFO:0003802"}
xref: Orphanet:98826 {source="MONDO:equivalentTo"}
xref: SCTID:109996008 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="MONDO:equivalentTo"}
xref: UMLS:C0002893 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="NCIT:C2872", source="Orphanet:98826"}
is_a: MONDO:0019453 {source="Orphanet:98826"} ! refractory cytopenia with multilineage dysplasia
property_value: closeMatch http://identifiers.org/snomedct/128845005
property_value: exactMatch http://identifiers.org/meddra/10038269
property_value: exactMatch http://identifiers.org/mesh/D000753
property_value: exactMatch http://identifiers.org/snomedct/109996008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002893
property_value: exactMatch NCIT:C2872
property_value: exactMatch Orphanet:98826

[Term]
id: MONDO:0005273
name: obsolete refractory anemia with excess blasts
is_obsolete: true
replaced_by: MONDO:0019454

[Term]
id: MONDO:0005275
name: lung disease
def: "A disease involving the lung." [MONDO:DesignPattern]
synonym: "disease of lung" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lung" EXACT []
synonym: "disorder of lung" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lung" RELATED [MONDO:patterns/location_top]
synonym: "lung disease" EXACT [MONDO:patterns/location]
synonym: "lung disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lung disorder" RELATED []
synonym: "lung disorders" EXACT [NCIT:C3198]
synonym: "pulmonary disease" RELATED []
synonym: "pulmonary diseases" EXACT [NCIT:C3198]
synonym: "pulmonary disorder" EXACT [NCIT:C3198]
synonym: "pulmonary disorders" EXACT [NCIT:C3198]
xref: DOID:850 {source="MONDO:equivalentTo", source="EFO:0003818"}
xref: EFO:0003818 {source="MONDO:equivalentTo"}
xref: ICD10:J98.4 {source="DOID:850"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008171 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003818", source="DOID:850"}
xref: NCIT:C3198 {source="MONDO:equivalentTo", source="DOID:850"}
xref: SCTID:19829001 {source="MONDO:equivalentTo", source="DOID:850"}
is_a: MONDO:0000270 {source="DOID:850", source="MONDO:Redundant", source="linkedlifedata"} ! lower respiratory tract disease
is_a: MONDO:0000651 ! thoracic disease
property_value: closeMatch http://identifiers.org/snomedct/196164004
property_value: closeMatch http://identifiers.org/snomedct/266374002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024115
property_value: exactMatch DOID:850
property_value: exactMatch http://identifiers.org/mesh/D008171
property_value: exactMatch http://identifiers.org/snomedct/19829001
property_value: exactMatch NCIT:C3198

[Term]
id: MONDO:0005276
name: dental caries
def: "The decay of a tooth, in which it becomes softened, discolored, and/or porous." [NCIT:P378]
synonym: "dental caries extending into pulp" EXACT [DOID:216]
synonym: "dental caries of smooth surface" EXACT [DOID:216]
synonym: "dental caries pit and fissure" EXACT [DOID:216]
xref: COHD:133228 {source="MONDO:equivalentTo"}
xref: DOID:216 {source="EFO:0003819", source="MONDO:equivalentTo"}
xref: EFO:0003819 {source="DOID:216", source="MONDO:equivalentTo"}
xref: ICD10:K02 {source="DOID:216", source="MONDO:equivalentTo"}
xref: ICD10:K02.6 {source="DOID:216"}
xref: ICD10:K02.9 {source="DOID:216"}
xref: ICD9:521.0 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:521.00 {source="DOID:216", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:521.06 {source="DOID:216"}
xref: ICD9:521.07 {source="DOID:216"}
xref: MESH:D003731 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:80967001 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011334 {source="DOID:216", source="MONDO:equivalentTo"}
is_a: MONDO:0002220 {source="DOID:216", source="linkedlifedata"} ! tooth hard tissue disease
property_value: closeMatch http://identifiers.org/snomedct/155632007
property_value: closeMatch http://identifiers.org/snomedct/196307002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456144
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1456145
property_value: exactMatch DOID:216
property_value: exactMatch http://identifiers.org/mesh/D003731
property_value: exactMatch http://identifiers.org/snomedct/80967001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011334
property_value: exactMatch NCIT:C52593

[Term]
id: MONDO:0005277
name: migraine disorder
def: "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." [NCIT:C89715]
synonym: "migraine" EXACT [NCIT:C89715]
synonym: "migraine disorder" EXACT [DOID:6364]
synonym: "migraine headache" EXACT [NCIT:C89715]
synonym: "migraine variant" EXACT [DOID:6364]
synonym: "migraine with or without aura" EXACT [DOID:6364]
xref: DOID:6364 {source="EFO:0003821", source="MONDO:equivalentTo"}
xref: EFO:0003821 {source="MONDO:equivalentTo", source="DOID:6364"}
xref: ICD10:G43 {source="DOID:6364"}
xref: ICD10:G43.9 {source="DOID:6364"}
xref: ICD10:G43.909 {source="DOID:6364"}
xref: ICD9:346 {source="EFO:0003821", source="DOID:6364"}
xref: ICD9:346.9 {source="DOID:6364"}
xref: MESH:D008881 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: OMIMPS:157300 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0017181 {source="MESH:D008881"} ! hypnic headache (disease)
is_a: MONDO:0043218 {source="NCIT:C89715"} ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/155046006
property_value: closeMatch http://identifiers.org/snomedct/155048007
property_value: closeMatch http://identifiers.org/snomedct/193028008
property_value: closeMatch http://identifiers.org/snomedct/193030005
property_value: closeMatch http://identifiers.org/snomedct/193036004
property_value: closeMatch http://identifiers.org/snomedct/193041007
property_value: closeMatch http://identifiers.org/snomedct/230467008
property_value: closeMatch http://identifiers.org/snomedct/267699004
property_value: closeMatch http://identifiers.org/snomedct/75879005
property_value: closeMatch http://identifiers.org/snomedct/95653008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042331
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149931
property_value: exactMatch DOID:6364
property_value: exactMatch http://identifiers.org/mesh/D008881
property_value: exactMatch NCIT:C113482
property_value: exactMatch NCIT:C89715

[Term]
id: MONDO:0005278
name: serous adenocarcinoma
def: "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." [NCIT:C40101]
synonym: "serous adenocarcinoma" EXACT [DOID:3114, NCIT:C40101]
synonym: "serous carcinoma" RELATED [DOID:3114]
synonym: "serous cystadenocarcinoma" RELATED [DOID:3114]
synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" RELATED [DOID:3114]
xref: DOID:3114 {source="MONDO:equivalentTo", source="EFO:0003825"}
xref: EFO:0003825 {source="MONDO:equivalentTo"}
xref: NCIT:C40101 {source="DOID:3114", source="MONDO:equivalentTo", source="EFO:0003825"}
xref: UMLS:C0206701 {source="DOID:3114", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="DOID:3114/inferred", source="EFO:0003825", source="MONDOLEX:0005278", source="NCIT:C40101"} ! adenocarcinoma
relationship: excluded_subClassOf MONDO:0005596 {source="DOID:3114"} ! cystadenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/D018284
property_value: closeMatch http://identifiers.org/snomedct/189685001
property_value: closeMatch http://identifiers.org/snomedct/90725004
property_value: exactMatch DOID:3114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206701
property_value: exactMatch NCIT:C40101

[Term]
id: MONDO:0005279
name: pulmonary embolism (disease)
def: "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." [NCIT:P378]
synonym: "embolism, pulmonary" EXACT [NCIT:C50713]
synonym: "pulmonary artery embolism" EXACT [DOID:9477, MTHICD9_2006:415.1]
synonym: "pulmonary embolism" EXACT [MONDO:ambiguous]
synonym: "pulmonary embolus" EXACT [DOID:9477]
xref: COHD:440417 {source="MONDO:equivalentTo"}
xref: DOID:9477 {source="MONDO:equivalentTo", source="EFO:0003827"}
xref: EFO:0003827 {source="MONDO:equivalentTo"}
xref: HP:0002204 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I26 {source="DOID:9477"}
xref: ICD10:I26.99 {source="DOID:9477"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011655 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003827", source="DOID:9477"}
xref: NCIT:C50713 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:59282003 {source="MONDO:equivalentTo", source="EFO:0003827", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:9477"}
xref: UMLS:C0034065 {source="NCIT:C50713", source="MONDO:equivalentTo", source="DOID:9477"}
is_a: MONDO:0000473 {source="DOID:9477", source="linkedlifedata/inferred"} ! arterial disorder
property_value: closeMatch http://identifiers.org/snomedct/155326007
property_value: closeMatch http://identifiers.org/snomedct/194882001
property_value: closeMatch http://identifiers.org/snomedct/266292008
property_value: exactMatch DOID:9477
property_value: exactMatch http://identifiers.org/mesh/D011655
property_value: exactMatch http://identifiers.org/snomedct/59282003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034065
property_value: exactMatch NCIT:C50713

[Term]
id: MONDO:0005280
name: prostatitis (disease)
def: "An infectious or non-infectious inflammatory process affecting the prostate gland." [NCIT:P378]
synonym: "inflammation of prostate gland" EXACT []
synonym: "prostate gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "prostatitis" EXACT [MONDO:ambiguous]
xref: COHD:194997 {source="MONDO:equivalentTo"}
xref: DOID:14654 {source="EFO:0003830", source="MONDO:equivalentTo"}
xref: EFO:0003830 {source="MONDO:equivalentTo"}
xref: HP:0000024 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N41 {source="DOID:14654"}
xref: ICD10:N41.9 {source="DOID:14654"}
xref: ICD9:601 {source="DOID:14654"}
xref: ICD9:601.4 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:601.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:601.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:14654"}
xref: MESH:D011472 {source="EFO:0003830", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14654"}
xref: NCIT:C26866 {source="EFO:0003830", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:14654"}
xref: SCTID:9713002 {source="EFO:0003830", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:14654"}
xref: UMLS:C0033581 {source="MONDO:equivalentTo", source="NCIT:C26866", source="DOID:14654"}
is_a: MONDO:0003105 {source="DOID:14654", source="MESH:D011472", source="MONDO:Redundant", source="NCIT:C26866/inferred", source="linkedlifedata"} ! prostate disease
is_a: MONDO:0021166 ! inflammatory disease
relationship: excluded_subClassOf MONDO:0005113 {source="EFO:0003830"} ! bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/155907007
property_value: closeMatch http://identifiers.org/snomedct/155911001
property_value: closeMatch http://identifiers.org/snomedct/197962006
property_value: closeMatch http://identifiers.org/snomedct/197971002
property_value: closeMatch http://identifiers.org/snomedct/266637008
property_value: exactMatch DOID:14654
property_value: exactMatch http://identifiers.org/mesh/D011472
property_value: exactMatch http://identifiers.org/snomedct/9713002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033581
property_value: exactMatch NCIT:C26866

[Term]
id: MONDO:0005281
name: gallbladder disease
def: "A disease involving the gall bladder." [MONDO:DesignPattern]
synonym: "disease of gall bladder" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gall bladder" EXACT []
synonym: "disorder of gall bladder" EXACT [MONDO:patterns/location_top]
synonym: "disorder of gall bladder" RELATED [MONDO:patterns/location_top]
synonym: "gall bladder disease" EXACT [MONDO:patterns/location]
synonym: "gall bladder disease or disorder" EXACT [MONDO:patterns/location]
synonym: "Gall bladder disorder" EXACT [NCIT:C34631]
synonym: "gallbladder disorder" EXACT [NCIT:C34631]
xref: DOID:0060262 {source="EFO:0003832", source="MONDO:equivalentTo"}
xref: EFO:0003832 {source="MONDO:equivalentTo"}
xref: ICD10:K82 {source="MONDO:equivalentTo"}
xref: ICD10:K82.9 {source="DOID:0060262"}
xref: ICD9:575.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:575.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060262"}
xref: MESH:D005705 {source="EFO:0003832", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060262"}
xref: NCIT:C34631 {source="MONDO:equivalentTo", source="DOID:0060262", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:600803 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:39621005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.12", source="DOID:0060262"}
xref: UMLS:C0016977 {source="MONDO:equivalentTo", source="NCIT:C34631", source="DOID:0060262"}
is_a: MONDO:0002515 ! hepatobiliary disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/155807008
property_value: closeMatch http://identifiers.org/snomedct/155826000
property_value: closeMatch http://identifiers.org/snomedct/155829007
property_value: closeMatch http://identifiers.org/snomedct/266535008
property_value: closeMatch http://identifiers.org/snomedct/266542008
property_value: closeMatch http://identifiers.org/snomedct/266543003
property_value: exactMatch DOID:0060262
property_value: exactMatch http://identifiers.org/mesh/D005705
property_value: exactMatch http://identifiers.org/snomedct/39621005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016977
property_value: exactMatch NCIT:C34631

[Term]
id: MONDO:0005282
name: cutaneous lupus erythematosus
def: "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." [NCIT:P378]
subset: gard_rare {source="GARD:0006225"}
synonym: "lupus erythematosus, cutaneous" RELATED [GARD:0006225]
xref: DOID:0050169 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: EFO:0003834 {source="MONDO:equivalentTo"}
xref: GARD:0006225 {source="MONDO:equivalentTo"}
xref: MESH:D008178 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: NCIT:C26819 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0003834"}
xref: SCTID:7119001 {source="MONDO:equivalentTo", source="EFO:0003834", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024137 {source="GARD:0006225", source="MEDGEN:kboom-pr98-c99", source="NCIT:C26819", source="MONDO:equivalentTo"}
is_a: MONDO:0004670 {source="DOID:0050169", source="NCIT:C26819"} ! lupus erythematosus
property_value: exactMatch DOID:0050169
property_value: exactMatch http://identifiers.org/mesh/D008178
property_value: exactMatch http://identifiers.org/snomedct/7119001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024137
property_value: exactMatch NCIT:C26819
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus xsd:anyURI {source="GARD:0006225"}

[Term]
id: MONDO:0005283
name: retinal disease
def: "Any disease or disorder of the retina." [NCIT:C62601]
synonym: "eye disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina eye disease" EXACT [MONDO:patterns/location]
synonym: "retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: COHD:376103 {source="MONDO:equivalentTo"}
xref: DC:0000592 {source="MONDO:equivalentTo"}
xref: DOID:5679 {source="MONDO:equivalentTo", source="EFO:0003839"}
xref: EFO:0003839 {source="MONDO:equivalentTo"}
xref: HGNC:8002 {source="EFO:0003839"}
xref: ICD10:H35.9 {source="DOID:5679"}
xref: ICD9:362.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:362.9 {source="MONDO:equivalentTo", source="DOID:5679", source="i2s"}
xref: MESH:D012164 {source="MONDO:equivalentTo", source="DOID:5679"}
xref: NCIT:C62601 {source="MONDO:equivalentTo", source="DOID:5679", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0003839"}
xref: SCTID:29555009 {source="MONDO:equivalentTo", source="DOID:5679", source="MONDO:kboom-pr-1.00/0.75/6.52"}
xref: UMLS:C0035309 {source="MONDO:equivalentTo", source="DOID:5679"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0005328 {source="DOID:5679", source="EFO:0003839", source="MESH:D012164", source="MONDO:Redundant", source="NCIT:C62601/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/193430004
property_value: closeMatch http://identifiers.org/snomedct/267715002
property_value: closeMatch http://identifiers.org/snomedct/35426003
property_value: closeMatch http://identifiers.org/snomedct/399625000
property_value: closeMatch NCIT:C26875
property_value: exactMatch DOID:5679
property_value: exactMatch http://identifiers.org/mesh/D012164
property_value: exactMatch http://identifiers.org/snomedct/29555009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035309
property_value: exactMatch NCIT:C62601

[Term]
id: MONDO:0005284
name: chronic progressive multiple sclerosis
def: "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020528]
xref: EFO:0003840 {source="MONDO:equivalentTo"}
xref: MESH:D020528 {source="EFO:0003840", source="MONDO:equivalentTo"}
xref: SCTID:230373008 {source="EFO:0003840", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0393665 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005301 {source="EFO:0003840", source="MESH:D020528"} ! multiple sclerosis
property_value: exactMatch http://identifiers.org/mesh/D020528
property_value: exactMatch http://identifiers.org/snomedct/230373008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393665

[Term]
id: MONDO:0005285
name: obsolete kidney stone
is_obsolete: true
replaced_by: MONDO:0008171

[Term]
id: MONDO:0005286
name: palatal neoplasm
def: "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." [NCIT:C4402]
synonym: "neoplasm of palate" EXACT [NCIT:C4402]
synonym: "neoplasm of secondary palate" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the palate" EXACT [NCIT:C4402]
synonym: "palate neoplasm" EXACT [NCIT:C4402]
synonym: "palate tumor" EXACT [NCIT:C4402]
synonym: "secondary palate neoplasm" EXACT []
synonym: "secondary palate neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "secondary palate tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of palate" EXACT [NCIT:C4402]
synonym: "tumor of secondary palate" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the palate" EXACT [NCIT:C4402]
xref: EFO:0003849 {source="MONDO:equivalentTo"}
xref: MESH:D010157 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003849"}
xref: NCIT:C4402 {source="MONDO:equivalentTo", source="EFO:0003849"}
xref: SCTID:126805009 {source="MONDO:equivalentTo"}
xref: UMLS:C0030215 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4402"}
is_a: MONDO:0021245 {source="NCIT:C4402", source="linkedlifedata"} ! oral cavity neoplasm
is_a: MONDO:0044987 ! face disease
property_value: exactMatch http://identifiers.org/mesh/D010157
property_value: exactMatch http://identifiers.org/snomedct/126805009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030215
property_value: exactMatch NCIT:C4402

[Term]
id: MONDO:0005287
name: developmental disability
def: "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" [MESH:D002658]
xref: EFO:0003852 {source="MONDO:equivalentTo"}
xref: MESH:D002658 {source="EFO:0003852", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0005071 {source="EFO:0003852"} ! nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/D002658

[Term]
id: MONDO:0005288
name: intestinal polyp (disease)
def: "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [MESH:D007417]
synonym: "intestinal polyp" EXACT [MONDO:ambiguous]
xref: EFO:0003855 {source="MONDO:equivalentTo"}
xref: HP:0005266 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007417 {source="MONDO:equivalentTo", source="EFO:0003855", source="MONDO:ontobio"}
xref: SCTID:254588001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.23"}
is_a: MONDO:0005020 ! intestinal disease
is_a: MONDO:0005079 {source="EFO:0003855", source="MESH:D007417", source="linkedlifedata"} ! polyp
property_value: exactMatch http://identifiers.org/mesh/D007417
property_value: exactMatch http://identifiers.org/snomedct/254588001

[Term]
id: MONDO:0005289
name: paranasal sinus neoplasm (disease)
def: "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7488]
synonym: "accessory sinus neoplasm" EXACT [NCIT:C7488]
synonym: "accessory sinus neoplasm" RELATED [NCIT:C7488]
synonym: "accessory sinus tumor" EXACT [NCIT:C7488]
synonym: "accessory sinus tumor" RELATED [NCIT:C7488]
synonym: "neoplasm of accessory sinus" EXACT [DOID:1350, NCIT:C7488]
synonym: "neoplasm of accessory sinus" RELATED [NCIT:C7488]
synonym: "neoplasm of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "neoplasm of paranasal sinus" RELATED [NCIT:C7488]
synonym: "neoplasm of the accessory sinus" EXACT [NCIT:C7488]
synonym: "neoplasm of the accessory sinus" RELATED [NCIT:C7488]
synonym: "neoplasm of the paranasal sinus" EXACT [NCIT:C7488]
synonym: "neoplasm of the paranasal sinus" RELATED [NCIT:C7488]
synonym: "paranasal sinus neoplasm" EXACT [MONDO:ambiguous, NCIT:C7488]
synonym: "paranasal sinus neoplasm" RELATED [NCIT:C7488]
synonym: "paranasal sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "paranasal sinus neoplasms" EXACT [NCIT:C7488]
synonym: "paranasal sinus neoplasms" RELATED [NCIT:C7488]
synonym: "paranasal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "paranasal sinus tumor" RELATED [NCIT:C7488]
synonym: "tumor of accessory sinus" EXACT [DOID:1350, NCIT:C7488]
synonym: "tumor of accessory sinus" RELATED [NCIT:C7488]
synonym: "tumor of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "tumor of paranasal sinus" RELATED [NCIT:C7488]
synonym: "tumor of the accessory sinus" EXACT [NCIT:C7488]
synonym: "tumor of the paranasal sinus" EXACT [NCIT:C7488]
xref: DOID:1350 {source="MONDO:equivalentTo", source="EFO:0003866"}
xref: EFO:0003866 {source="MONDO:equivalentTo"}
xref: HP:0030072 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C7488 {source="DOID:1350", source="NCIT:C7488", source="MONDO:equivalentTo", source="EFO:0003866"}
xref: SCTID:126675008 {source="DOID:1350", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030470 {source="DOID:1350", source="NCIT:C7488", source="MONDO:equivalentTo"}
is_a: MONDO:0001735 {source="DOID:1350", source="MONDO:Redundant", source="NCIT:C7488", source="OWLReasoner:2017", source="linkedlifedata"} ! paranasal sinus disease
is_a: MONDO:0024653 ! skull neoplasm
property_value: closeMatch http://identifiers.org/mesh/D010255
property_value: exactMatch DOID:1350
property_value: exactMatch http://identifiers.org/snomedct/126675008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030470
property_value: exactMatch NCIT:C7488

[Term]
id: MONDO:0005290
name: rhabdomyolysis (disease)
def: "A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma." [NCIT:P378]
synonym: "rhabdomyolysis" EXACT [MONDO:ambiguous]
xref: COHD:4345578 {source="MONDO:equivalentTo"}
xref: EFO:0003867 {source="MONDO:equivalentTo"}
xref: HP:0003201 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:728.88 {source="MONDO:equivalentTo", source="EFO:0003867", source="i2s"}
xref: MESH:D012206 {source="MONDO:equivalentTo", source="EFO:0003867", source="MONDO:ontobio"}
xref: NCIT:C118318 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0003867"}
xref: SCTID:240131006 {source="MONDO:equivalentTo", source="EFO:0003867", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005218 {source="EFO:0003867", source="MESH:D012206"} ! muscular disease
property_value: closeMatch http://identifiers.org/snomedct/89010004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035410
property_value: exactMatch http://identifiers.org/mesh/D012206
property_value: exactMatch http://identifiers.org/snomedct/240131006
property_value: exactMatch NCIT:C118318

[Term]
id: MONDO:0005291
name: brain aneurysm
def: "A congenital or acquired aneurysm within the cranium." [NCIT:P378]
synonym: "brain aneurysm" EXACT [DOID:10941]
synonym: "intracranial aneurysm" RELATED [DOID:10941]
xref: DOID:10941 {source="EFO:0003870", source="MONDO:equivalentTo"}
xref: EFO:0003870 {source="DOID:10941", source="MONDO:equivalentTo"}
xref: MESH:D002532 {source="EFO:0003870", source="DOID:10941", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0007766 {source="DOID:10941", source="MONDO:equivalentTo"}
is_a: MONDO:0006693 {source="DOID:10941"} ! cerebral arterial disease
property_value: closeMatch http://identifiers.org/snomedct/125236003
property_value: closeMatch http://identifiers.org/snomedct/128609009
property_value: closeMatch http://identifiers.org/snomedct/277196008
property_value: closeMatch http://identifiers.org/snomedct/42994005
property_value: exactMatch DOID:10941
property_value: exactMatch http://identifiers.org/mesh/D002532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007766
property_value: exactMatch NCIT:C27208
property_value: exactMatch NCIT:C34458

[Term]
id: MONDO:0005292
name: colitis (disease)
def: "Inflammation of the colon." [NCIT:P378]
synonym: "colitis" EXACT [MONDO:ambiguous]
synonym: "colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of colon" EXACT []
xref: DOID:0060180 {source="EFO:0003872", source="MONDO:equivalentTo"}
xref: EFO:0003872 {source="MONDO:equivalentTo", source="DOID:0060180"}
xref: HP:0002583 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K52.9 {source="DOID:0060180"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003092 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180", source="MONDO:ontobio"}
xref: NCIT:C26723 {source="EFO:0003872", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060180"}
xref: SCTID:64226004 {source="EFO:0003872", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:0060180"}
xref: UMLS:C0009319 {source="MONDO:equivalentTo", source="DOID:0060180", source="NCIT:C26723"}
is_a: MONDO:0002269 ! gastroenteritis
is_a: MONDO:0003409 {source="MESH:D003092", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! colonic disease
is_a: MONDO:0005265 {source="DOID:0060180"} ! inflammatory bowel disease
property_value: exactMatch DOID:0060180
property_value: exactMatch http://identifiers.org/mesh/D003092
property_value: exactMatch http://identifiers.org/snomedct/64226004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009319
property_value: exactMatch NCIT:C26723

[Term]
id: MONDO:0005293
name: flatfoot
def: "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." [NCIT:P378]
synonym: "fallen Arch" EXACT [NCIT:C34616]
synonym: "flat Foot" EXACT [NCIT:C34616]
xref: EFO:0003874 {source="MONDO:equivalentTo"}
xref: ICD9:734 {source="EFO:0003874"}
xref: MESH:D005413 {source="EFO:0003874", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34616 {source="EFO:0003874", source="MONDO:equivalentTo"}
xref: SCTID:53226007 {source="EFO:0003874", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 {source="EFO:0003874"} ! skeletal system disease
property_value: exactMatch http://identifiers.org/mesh/D005413
property_value: exactMatch http://identifiers.org/snomedct/53226007
property_value: exactMatch NCIT:C34616

[Term]
id: MONDO:0005294
name: peripheral vascular disease
def: "Any disorder affecting blood flow through the veins or arteries outside of the heart." [NCIT:C35136]
synonym: "arterial occlusive disease" EXACT [DOID:341]
synonym: "disease, peripheral vascular" EXACT [NCIT:C35136]
synonym: "peripheral vascular disorder" EXACT [NCIT:C35136]
synonym: "vascular disease, peripheral" EXACT [NCIT:C35136]
xref: COHD:321052 {source="MONDO:equivalentTo"}
xref: DOID:341 {source="MONDO:equivalentTo", source="EFO:0003875"}
xref: EFO:0003875 {source="MONDO:equivalentTo"}
xref: ICD9:443.81 {source="DOID:341"}
xref: MESH:D016491 {source="MONDO:equivalentTo", source="EFO:0003875"}
xref: NCIT:C35136 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005385 {source="DOID:341", source="EFO:0003875", source="MESH:D016491", source="NCIT:C35136/inferred"} ! vascular disease
property_value: closeMatch http://identifiers.org/mesh/D001157
property_value: closeMatch http://identifiers.org/snomedct/195624006
property_value: closeMatch http://identifiers.org/snomedct/2929001
property_value: closeMatch http://identifiers.org/snomedct/400047006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003838
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031115
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085096
property_value: exactMatch DOID:341
property_value: exactMatch http://identifiers.org/mesh/D016491
property_value: exactMatch NCIT:C35136

[Term]
id: MONDO:0005295
name: intermittent vascular claudication
def: "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." [MESH:D007383]
synonym: "Charcot's syndrome" EXACT [CSP2005:0413-3711, CSP2005:0571-6915, CSP2005:4000-0117, DOID:3669]
synonym: "intermittent claudication" EXACT [DOID:3669]
synonym: "intermittent claudication NOS" RELATED EXCLUDE [DOID:3669, MTHICD9_2006:443.9]
xref: DOID:3669 {source="EFO:0003876", source="MONDO:equivalentTo"}
xref: EFO:0003876 {source="MONDO:equivalentTo"}
xref: ICD10:I73.9 {source="DOID:3669"}
xref: ICD9:440.21 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007383 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669", source="MONDO:ontobio"}
xref: SCTID:63491006 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0021775 {source="MONDO:equivalentTo", source="DOID:3669"}
is_a: MONDO:0002277 {source="DOID:3669", source="MESH:D007383"} ! arteriosclerosis disorder
is_a: MONDO:0005294 {source="EFO:0003876"} ! peripheral vascular disease
property_value: closeMatch http://identifiers.org/snomedct/155430009
property_value: closeMatch http://identifiers.org/snomedct/195312007
property_value: exactMatch DOID:3669
property_value: exactMatch http://identifiers.org/mesh/D007383
property_value: exactMatch http://identifiers.org/snomedct/63491006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021775

[Term]
id: MONDO:0005296
name: sleep apnea syndrome
def: "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." [MESH:D012891, MONDO:cjm]
synonym: "apnea syndrome, sleep" RELATED [MESH:D012891]
synonym: "apnea syndromes, sleep" RELATED [MESH:D012891]
synonym: "apnea, sleep" RELATED [MESH:D012891]
synonym: "Apneas, sleep" RELATED [MESH:D012891]
synonym: "breathing, sleep-disordered" RELATED [MESH:D012891]
synonym: "breathing-related sleep disorder" BROAD []
synonym: "hypersomnia with periodic respiration" RELATED [MESH:D012891]
synonym: "hypopnea, sleep" RELATED [MESH:D012891]
synonym: "hypopneas, sleep" RELATED [MESH:D012891]
synonym: "mixed central and obstructive sleep apnea" RELATED [MESH:D012891]
synonym: "mixed sleep apnea" RELATED [MESH:D012891]
synonym: "mixed sleep Apneas" RELATED [MESH:D012891]
synonym: "SDB" EXACT [NCIT:C148023]
synonym: "sleep apnea" EXACT [MESH:D012891, MONDO:ambiguous]
synonym: "sleep apnea syndrome" EXACT [MESH:D012891]
synonym: "sleep apnea, mixed" RELATED [MESH:D012891]
synonym: "sleep apnea, mixed central and obstructive" RELATED [MESH:D012891]
synonym: "sleep Apneas" RELATED [MESH:D012891]
synonym: "sleep Apneas, mixed" RELATED [MESH:D012891]
synonym: "sleep disordered breathing" RELATED [MESH:D012891]
synonym: "sleep hypopnea" RELATED [MESH:D012891]
synonym: "sleep hypopneas" RELATED [MESH:D012891]
synonym: "sleep-disordered breathing" RELATED [MESH:D012891]
xref: DOID:0050847 {source="MONDO:equivalentTo", source="EFO:0003877"}
xref: EFO:0003877 {source="MONDO:equivalentTo"}
xref: HP:0010535 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G47.3 {source="MONDO:equivalentTo"}
xref: ICD9:780.57 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012891 {source="MONDO:equivalentTo", source="EFO:0003877", source="MONDO:ontobio"}
xref: NCIT:C148023 {source="MONDO:equivalentTo"}
xref: SCTID:111489007 {source="MONDO:equivalentTo"}
xref: SCTID:73430006 {source="MONDO:equivalentTo", source="EFO:0003877", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003406 {source="DOID:0050847", source="EFO:0003877", source="ICD10:G47.3", source="MESH:D012891/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! sleep-wake disorder
is_a: MONDO:0005087 {source="EFO:0003877", source="MESH:D012891/inferred", source="NCIT:C148023/inferred", source="linkedlifedata"} ! respiratory system disease
property_value: exactMatch DOID:0050847
property_value: exactMatch http://identifiers.org/mesh/D012891
property_value: exactMatch http://identifiers.org/snomedct/111489007
property_value: exactMatch http://identifiers.org/snomedct/73430006
property_value: exactMatch NCIT:C148023
property_value: exactMatch NCIT:C26884

[Term]
id: MONDO:0005297
name: urethritis (disease)
def: "Inflammation of the urethra." [NCIT:P378]
synonym: "inflammation of urethra" EXACT []
synonym: "non-gonococcal urethritis" EXACT [DOID:1343, NCIT:C27079]
synonym: "Nongonococcal urethritis" EXACT [DOID:1343]
synonym: "urethra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "urethritis" EXACT [MONDO:ambiguous, NCIT:C26904]
xref: COHD:195862 {source="MONDO:equivalentTo"}
xref: DOID:1343 {source="MONDO:equivalentTo", source="EFO:0003878"}
xref: EFO:0003878 {source="MONDO:equivalentTo"}
xref: HP:0500006 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N34.2 {source="DOID:1343"}
xref: ICD9:099.40 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:597.80 {source="DOID:1343"}
xref: MESH:D014526 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878", source="MONDO:ontobio"}
xref: NCIT:C26904 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878"}
xref: SCTID:84619001 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0004184 {source="DOID:1343", source="MESH:D014526", source="MONDO:Redundant", source="NCIT:C26904/inferred", source="linkedlifedata/inferred"} ! urethral disease
is_a: MONDO:0005247 ! urinary tract infection (disease)
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/154388003
property_value: closeMatch http://identifiers.org/snomedct/197905005
property_value: closeMatch http://identifiers.org/snomedct/31822004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041976
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311389
property_value: exactMatch DOID:1343
property_value: exactMatch http://identifiers.org/mesh/D014526
property_value: exactMatch http://identifiers.org/snomedct/84619001
property_value: exactMatch NCIT:C26904

[Term]
id: MONDO:0005298
name: osteoporosis
def: "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." [NCIT:C3298]
synonym: "fracture, hip, susceptibility to" RELATED [OMIM:166710]
synonym: "osteoporosis, involutional" RELATED [OMIM:166710]
xref: COHD:80502 {source="MONDO:equivalentTo"}
xref: DOID:11476 {source="EFO:0003882", source="MONDO:equivalentTo"}
xref: EFO:0003882 {source="MONDO:equivalentTo", source="DOID:11476"}
xref: GARD:0011932 {source="MONDO:equivalentTo"}
xref: ICD10:M81 {source="MONDO:equivalentTo"}
xref: ICD10:M81.0 {source="DOID:11476"}
xref: ICD9:733.0 {source="EFO:0003882", source="DOID:11476"}
xref: ICD9:733.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:11476"}
xref: ICD9:733.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010024 {source="EFO:0003882", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11476"}
xref: NCIT:C3298 {source="EFO:0003882", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:11476"}
xref: OMIM:166710 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"}
xref: SCTID:64859006 {source="EFO:0003882", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.67/0.51", source="DOID:11476"}
is_a: MONDO:0000837 {source="DOID:11476"} ! bone resorption disease
property_value: closeMatch http://identifiers.org/snomedct/156825006
property_value: closeMatch http://identifiers.org/snomedct/203428004
property_value: closeMatch http://identifiers.org/snomedct/203440004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029456
property_value: exactMatch DOID:11476
property_value: exactMatch http://identifiers.org/mesh/D010024
property_value: exactMatch http://identifiers.org/omim/166710
property_value: exactMatch http://identifiers.org/snomedct/64859006
property_value: exactMatch NCIT:C3298

[Term]
id: MONDO:0005299
name: brain ischemia
def: "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." [NCIT:C78394]
synonym: "brain ischemia" EXACT [MONDO:patterns/location]
synonym: "brain ischemic disease" EXACT [MONDO:patterns/location]
synonym: "cerebrovascular ischemia" EXACT [NCIT:C78394]
synonym: "ischaemic encephalopathy" EXACT [DOID:2316]
synonym: "ischemia cerebrovascular" EXACT [NCIT:C78394]
synonym: "ischemic disease of brain" EXACT [MONDO:design_pattern]
synonym: "ischemic encephalopathy" EXACT [DOID:2316]
xref: DOID:2316 {source="EFO:0003883", source="MONDO:equivalentTo"}
xref: EFO:0003883 {source="MONDO:equivalentTo"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002545 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316", source="MONDO:ontobio"}
xref: NCIT:C78394 {source="MONDO:equivalentTo"}
xref: SCTID:389100007 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007786 {source="MONDO:equivalentTo", source="DOID:2316"}
is_a: MONDO:0005053 {source="DOID:2316", source="EFO:0003883", source="MONDO:Entailed", source="MONDO:Redundant"} ! ischemic disease
is_a: MONDO:0011057 {source="MESH:D002545", source="NCIT:C78394"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/11890005
property_value: closeMatch http://identifiers.org/snomedct/193049009
property_value: closeMatch http://identifiers.org/snomedct/287731003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0917798
property_value: exactMatch DOID:2316
property_value: exactMatch http://identifiers.org/mesh/D002545
property_value: exactMatch http://identifiers.org/snomedct/389100007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007786
property_value: exactMatch NCIT:C78394

[Term]
id: MONDO:0005300
name: chronic kidney disease
def: "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." [NCIT:C80078]
synonym: "chronic kidney disease" EXACT [NCIT:C80078]
synonym: "chronic kidney failure" EXACT EXCLUDE [DOID:784]
synonym: "chronic renal disease" EXACT [DOID:784, NCIT:C80078]
synonym: "chronic renal failure syndrome" NARROW [DOID:784]
synonym: "chronic renal insufficiency" RELATED [NCIT:C80078]
synonym: "CKD" EXACT [DOID:784]
synonym: "CKD - chronic kidney disease" EXACT [NCIT:C80078]
synonym: "kidney disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "renal failure - chronic" EXACT [DOID:784]
xref: COHD:46271022 {source="MONDO:equivalentTo"}
xref: DOID:784 {source="EFO:0003884", source="MONDO:equivalentTo"}
xref: EFO:0003884 {source="MONDO:equivalentTo", source="DOID:784"}
xref: ICD10:N18.9 {source="DOID:784"}
xref: ICD9:585 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:585.6 {source="EFO:0003884", source="MONDO:superClassOf", source="DOID:784"}
xref: MESH:D007676 {source="EFO:0003884", source="MONDO:equivalentTo", source="DOID:784"}
xref: NCIT:C80078 {source="EFO:0003884", source="MONDO:equivalentTo"}
xref: SCTID:709044004 {source="MONDO:kboom-pr-0.94/0.74/1.60", source="MONDO:equivalentTo"}
xref: UMLS:C0022661 {source="MONDO:equivalentTo", source="NCIT:C9438", source="DOID:784"}
is_a: MONDO:0005240 ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/155856009
property_value: closeMatch http://identifiers.org/snomedct/197654000
property_value: closeMatch http://identifiers.org/snomedct/197655004
property_value: closeMatch http://identifiers.org/snomedct/197755007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1561643
property_value: exactMatch DOID:784
property_value: exactMatch http://identifiers.org/mesh/D007676
property_value: exactMatch http://identifiers.org/snomedct/709044004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022661
property_value: exactMatch NCIT:C80078

[Term]
id: MONDO:0005301
name: multiple sclerosis
def: "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." [NCIT:P378]
synonym: "generalized multiple sclerosis" NARROW [DOID:2377]
synonym: "insular sclerosis" RELATED [CSP2005:2042-2324, DOID:2377]
xref: COHD:374919 {source="MONDO:equivalentTo"}
xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"}
xref: EFO:0003885 {source="DOID:2377", source="MONDO:equivalentTo"}
xref: ICD10:G35 {source="DOID:2377", source="MONDO:equivalentTo"}
xref: ICD9:340 {source="EFO:0003885", source="DOID:2377"}
xref: MESH:D009103 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"}
xref: NCIT:C3243 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:24700007 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"}
xref: UMLS:C0026769 {source="DOID:2377", source="MONDO:equivalentTo", source="NCIT:C3243"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0002562 {source="DOID:2377", source="ICD10:G35", source="MESH:D009103/inferred"} ! demyelinating disease
is_a: MONDO:0005560 {source="MESH:D009103/inferred", source="MONDO:Redundant"} ! brain disease
is_a: MONDO:0006704 {source="MESH:D009103"} ! CNS demyelinating autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/155023009
property_value: closeMatch http://identifiers.org/snomedct/192928003
property_value: closeMatch http://identifiers.org/snomedct/192930001
property_value: exactMatch DOID:2377
property_value: exactMatch http://identifiers.org/mesh/D009103
property_value: exactMatch http://identifiers.org/snomedct/24700007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026769
property_value: exactMatch NCIT:C3243

[Term]
id: MONDO:0005302
name: attention deficit disorder
def: "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." [NCIT:C35092]
synonym: "ADD" EXACT [NCIT:C35092]
synonym: "ADHD" EXACT [DOID:1094]
synonym: "attention deficit disorder" EXACT [DOID:1094]
synonym: "hyperkinetic disorder" EXACT [DOID:1094]
xref: COHD:438409 {source="MONDO:equivalentTo"}
xref: DOID:1094 {source="MONDO:equivalentTo", source="EFO:0003888"}
xref: EFO:0003888 {source="MONDO:equivalentTo", source="DOID:1094"}
xref: ICD9:314.01 {source="MONDO:equivalentTo", source="i2s", source="EFO:0003888"}
xref: ICD9:314.8 {source="MONDO:relatedTo", source="i2s", source="DOID:1094"}
xref: ICD9:314.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001289 {source="MONDO:equivalentTo", source="EFO:0003888", source="DOID:1094"}
xref: NCIT:C35092 {source="MONDO:kboom-pr-0.95/0.77/1.93", source="MONDO:equivalentTo", source="DOID:1094"}
xref: SCTID:406506008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.71/0.25", source="EFO:0003888"}
is_a: MONDO:0000592 {source="DOID:1094"} ! specific developmental disorder
relationship: excluded_subClassOf MONDO:0000495 {source="MESH:D001289"} ! oppositional defiant disorder (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041671
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154629
property_value: exactMatch DOID:1094
property_value: exactMatch http://identifiers.org/mesh/D001289
property_value: exactMatch http://identifiers.org/snomedct/406506008
property_value: exactMatch NCIT:C35092

[Term]
id: MONDO:0005303
name: drug dependence
def: "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." [NCIT:P378]
synonym: "chemical dependence" EXACT [NCIT:C3894]
xref: COHD:440069 {source="MONDO:equivalentTo"}
xref: DOID:9974 {source="MONDO:equivalentTo", source="EFO:0003890"}
xref: EFO:0003890 {source="MONDO:equivalentTo"}
xref: ICD9:304 {source="EFO:0003890"}
xref: ICD9:304.6 {source="DOID:9974"}
xref: ICD9:304.60 {source="DOID:9974", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:304.90 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3894 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0003890"}
xref: SCTID:191816009 {source="MONDO:equivalentTo", source="EFO:0003890", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001423 ! drug-induced mental disorder
is_a: MONDO:0004938 {source="DOID:9974", source="NCIT:C3894"} ! substance dependence
property_value: closeMatch http://identifiers.org/snomedct/191859004
property_value: closeMatch http://identifiers.org/snomedct/191860009
property_value: closeMatch http://identifiers.org/snomedct/191864000
property_value: closeMatch http://identifiers.org/snomedct/268644006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029792
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510472
property_value: exactMatch DOID:9974
property_value: exactMatch http://identifiers.org/snomedct/191816009
property_value: exactMatch NCIT:C3894

[Term]
id: MONDO:0005304
name: biliary tract neoplasm (disease)
def: "A neoplasm that involves the biliary tract." [MONDO:patterns/location]
synonym: "biliary tract neoplasm" EXACT [MONDO:ambiguous]
synonym: "biliary tree neoplasm" EXACT []
synonym: "biliary tree neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "biliary tree tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "extrahepatic bile duct neoplasm" EXACT EXCLUDE [DOID:0050625]
synonym: "neoplasm of biliary tree" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of extrahepatic bile ducts" EXACT [DOID:0050625]
synonym: "tumor of biliary tree" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the extrahepatic bile duct" EXACT EXCLUDE [DOID:0050625]
xref: DOID:0050625 {source="EFO:0003891", source="MONDO:equivalentTo"}
xref: EFO:0003891 {source="MONDO:equivalentTo"}
xref: HP:0100574 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ONCOTREE:BILIARYTRACT {source="MONDO:equivalentTo"}
xref: SCTID:126853008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345913 {source="MONDO:equivalentTo", source="DOID:0050625"}
is_a: MONDO:0004721 ! liver neoplasm
is_a: MONDO:0004868 ! biliary tract disease
property_value: closeMatch http://identifiers.org/mesh/D001661
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005423
property_value: closeMatch NCIT:C12678
property_value: exactMatch DOID:0050625
property_value: exactMatch http://identifiers.org/snomedct/126853008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345913

[Term]
id: MONDO:0005305
name: obsolete epistaxis
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/924 xsd:string
is_obsolete: true
consider: HP:0000421

[Term]
id: MONDO:0005306
name: ankylosing spondylitis
def: "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." [NCIT:P378]
synonym: "Bekhterev syndrome" EXACT [DOID:7147]
synonym: "Bekhterev's disease" EXACT [DOID:7147]
synonym: "Marie-Strumpell disease" EXACT [DOID:7147]
xref: COHD:437082 {source="MONDO:equivalentTo"}
xref: DOID:7147 {source="EFO:0003898", source="MONDO:equivalentTo"}
xref: EFO:0003898 {source="DOID:7147", source="MONDO:equivalentTo"}
xref: ICD10:M45 {source="DOID:7147", source="MONDO:equivalentTo"}
xref: ICD9:720.0 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013167 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84564 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:9631008 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"}
is_a: MONDO:0003937 {source="MESH:D013167/inferred", source="MONDO:cjm", source="linkedlifedata"} ! spondylitis
is_a: MONDO:0005095 {source="EFO:0003898", source="MONDO:Redundant"} ! spondyloarthropathy
is_a: MONDO:0008383 ! rheumatoid arthritis
is_a: MONDO:0037847 ! vertebral joint disease
property_value: closeMatch http://identifiers.org/snomedct/156619005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038013
property_value: closeMatch Orphanet:825
property_value: exactMatch DOID:7147
property_value: exactMatch http://identifiers.org/mesh/D013167
property_value: exactMatch http://identifiers.org/snomedct/9631008
property_value: exactMatch NCIT:C84564

[Term]
id: MONDO:0005307
name: contracture
def: "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." [MESH:D003286]
xref: EFO:0003899 {source="MONDO:equivalentTo"}
xref: MESH:D003286 {source="MONDO:equivalentTo", source="EFO:0003899", source="MONDO:ontobio"}
is_a: MONDO:0005218 {source="EFO:0003899", source="MESH:D003286"} ! muscular disease
property_value: closeMatch http://identifiers.org/snomedct/57048009
property_value: exactMatch http://identifiers.org/mesh/D003286

[Term]
id: MONDO:0005308
name: ciliopathy
def: "A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." [http://en.wikipedia.org/wiki/Ciliopathy]
subset: ordo_group_of_disorders
synonym: "ciliopathies" RELATED [GTR:AN0966173]
xref: DOID:0060340 {source="MONDO:equivalentTo", source="EFO:0003900"}
xref: EFO:0003900 {source="MONDO:equivalentTo"}
xref: GTR:AN0966173 {source="UMLS:CN580792"}
xref: Orphanet:363250 {source="MONDO:equivalentTo"}
xref: UMLS:CN580792 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="DOID:0060340", source="EFO:0003900"} ! Mendelian disease
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected
property_value: exactMatch DOID:0060340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN580792
property_value: exactMatch Orphanet:363250

[Term]
id: MONDO:0005309
name: spinal fracture
def: "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." [NCIT:P378]
synonym: "bone fracture of vertebral column" EXACT [MONDO:design_pattern]
synonym: "vertebral column bone fracture" EXACT [MONDO:patterns/location]
xref: EFO:0003902 {source="MONDO:equivalentTo"}
xref: MESH:D016103 {source="MONDO:equivalentTo", source="EFO:0003902", source="MONDO:ontobio"}
xref: SCTID:50448004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
is_a: MONDO:0005315 {source="EFO:0003902", source="MESH:D016103", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! bone fracture
is_a: MONDO:0037747 ! spinal injury
property_value: exactMatch http://identifiers.org/mesh/D016103
property_value: exactMatch http://identifiers.org/snomedct/50448004
property_value: exactMatch NCIT:C80516

[Term]
id: MONDO:0005310
name: atrial flutter (disease)
def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" [NCIT:P378]
synonym: "atrial flutter" EXACT [MONDO:ambiguous]
xref: COHD:314665 {source="MONDO:equivalentTo"}
xref: EFO:0003911 {source="MONDO:equivalentTo"}
xref: HP:0004749 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:427.32 {source="MONDO:equivalentTo", source="EFO:0003911", source="i2s"}
xref: MESH:D001282 {source="MONDO:equivalentTo", source="EFO:0003911", source="MONDO:ontobio"}
xref: NCIT:C51224 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0003911"}
xref: SCTID:5370000 {source="MONDO:equivalentTo", source="EFO:0003911", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005479 {source="EFO:0003911"} ! atrial tachycardia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004239
property_value: exactMatch http://identifiers.org/mesh/D001282
property_value: exactMatch http://identifiers.org/snomedct/5370000
property_value: exactMatch NCIT:C51224

[Term]
id: MONDO:0005311
name: atherosclerosis
def: "Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen." [NCIT:C35768]
comment: Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here
synonym: "atherosclerosis artery" RELATED []
synonym: "atherosclerosis of artery" EXACT []
synonym: "atherosclerotic cardiovascular disease" EXACT [NCIT:C35771]
xref: DOID:1936 {source="MONDO:equivalentTo", source="EFO:0003914"}
xref: EFO:0003914 {source="MONDO:equivalentTo", source="DOID:1936"}
xref: ICD10:I25.1 {source="DOID:1936"}
xref: ICD10:I70 {source="MONDO:equivalentTo", source="DOID:1936"}
xref: ICD9:440 {source="EFO:0003914", source="DOID:1936"}
xref: ICD9:440.8 {source="linkedlifedata"}
xref: MESH:D050197 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003914", source="DOID:1936"}
xref: NCIT:C35768 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0003914", source="DOID:1936"}
xref: NCIT:C35771 {source="MONDO:equivalentTo", source="DOID:1936"}
xref: SCTID:441574008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002277 {source="DOID:1936", source="DOID:1936/inferred", source="EFO:0003914", source="MESH:D050197", source="NCIT:C35768", source="NCIT:C35771", source="linkedlifedata"} ! arteriosclerosis disorder
property_value: closeMatch http://identifiers.org/snomedct/155382007
property_value: closeMatch http://identifiers.org/snomedct/155414001
property_value: closeMatch http://identifiers.org/snomedct/194848007
property_value: closeMatch http://identifiers.org/snomedct/195251000
property_value: closeMatch http://identifiers.org/snomedct/266318005
property_value: closeMatch http://identifiers.org/snomedct/38716007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003972
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004153
property_value: exactMatch DOID:1936
property_value: exactMatch http://identifiers.org/mesh/D050197
property_value: exactMatch http://identifiers.org/snomedct/441574008
property_value: exactMatch NCIT:C35768
property_value: exactMatch NCIT:C35771

[Term]
id: MONDO:0005312
name: pouchitis
def: "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." [MESH:D019449]
xref: EFO:0003921 {source="MONDO:equivalentTo"}
xref: ICD10:K91.850 {source="MONDO:equivalentTo"}
xref: ICD9:569.71 {source="EFO:0003921"}
xref: MESH:D019449 {source="MONDO:equivalentTo", source="EFO:0003921", source="MONDO:ontobio"}
xref: UMLS:C0376620 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024635 ! small intestine disease
property_value: exactMatch http://identifiers.org/mesh/D019449
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376620

[Term]
id: MONDO:0005313
name: necrotizing enterocolitis
def: "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." [https://www.chla.org/necrotizing-enterocolitis]
synonym: "NEC" EXACT [NCIT:C84915]
synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915]
synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915]
xref: EFO:0003928 {source="MONDO:equivalentTo"}
xref: ICD9:777.5 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020345 {source="MONDO:equivalentTo", source="EFO:0003928"}
xref: NCIT:C84915 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20", source="EFO:0003928"}
xref: SCTID:2707005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.47/1.07"}
xref: UMLS:C0520459 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C4082937 {source="MONDO:equivalentTo", source="NCIT:C84915"}
is_a: MONDO:0005020 {source="EFO:0003928", source="MESH:D020345/inferred", source="MONDO:Redundant", source="NCIT:C84915/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease
is_a: MONDO:0009172 {source="EFO:0003928", source="MESH:D020345", source="NCIT:C84915", source="linkedlifedata"} ! enterocolitis (disease)
property_value: exactMatch http://identifiers.org/mesh/D020345
property_value: exactMatch http://identifiers.org/snomedct/2707005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082937
property_value: exactMatch NCIT:C84915

[Term]
id: MONDO:0005314
name: relapsing-remitting multiple sclerosis
def: "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020529]
synonym: "Relapsing-remitting MS" EXACT [DOID:2378]
synonym: "RRMS" EXACT [DOID:2378]
xref: DOID:2378 {source="EFO:0003929", source="MONDO:equivalentTo"}
xref: EFO:0003929 {source="DOID:2378", source="MONDO:equivalentTo"}
xref: MESH:D020529 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:426373005 {source="EFO:0003929", source="MONDO:kboom-pr-0.75/0.37/0.60", source="DOID:2378", source="MONDO:equivalentTo"}
xref: UMLS:C0751967 {source="DOID:2378", source="MONDO:equivalentTo"}
is_a: MONDO:0005301 {source="DOID:2378", source="EFO:0003929", source="MESH:D020529"} ! multiple sclerosis
property_value: closeMatch http://identifiers.org/snomedct/230372003
property_value: exactMatch DOID:2378
property_value: exactMatch http://identifiers.org/mesh/D020529
property_value: exactMatch http://identifiers.org/snomedct/426373005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751967

[Term]
id: MONDO:0005315
name: bone fracture
def: "Breaks in bones." [MESH:D050723]
subset: other_hierarchy
synonym: "fracture" EXACT [NCIT:C3046]
synonym: "fracture of bone" EXACT [NCIT:C3046]
synonym: "fracture(s)" EXACT [NCIT:C3046]
xref: COHD:75053 {source="MONDO:equivalentTo"}
xref: EFO:0003931 {source="MONDO:equivalentTo"}
xref: MESH:D050723 {source="EFO:0003931", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3046 {source="MONDO:equivalentTo"}
xref: SCTID:125605004 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="MESH:D050723", source="MONDO:cjm", source="NCIT:C3046/inferred"} ! injury
relationship: excluded_subClassOf MONDO:0005381 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016658
property_value: exactMatch http://identifiers.org/mesh/D050723
property_value: exactMatch http://identifiers.org/snomedct/125605004
property_value: exactMatch NCIT:C3046

[Term]
id: MONDO:0005316
name: bacterial vaginosis
def: "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." [NCIT:P378]
synonym: "BV" BROAD [NCIT:C116973]
xref: DOID:3385 {source="MONDO:equivalentTo", source="EFO:0003932"}
xref: EFO:0003932 {source="MONDO:equivalentTo"}
xref: MESH:D016585 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932", source="MONDO:ontobio"}
xref: NCIT:C116973 {source="DOID:3385", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0003932"}
xref: SCTID:419760006 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0085166 {source="DOID:3385", source="MONDO:equivalentTo", source="NCIT:C116973"}
is_a: MONDO:0006706 ! Bifidobacteriales infectious disease
is_a: MONDO:0023557 ! infective vaginitis
property_value: closeMatch http://identifiers.org/snomedct/155981006
property_value: closeMatch http://identifiers.org/snomedct/198221007
property_value: closeMatch http://identifiers.org/snomedct/237092002
property_value: closeMatch http://identifiers.org/snomedct/266655004
property_value: closeMatch http://identifiers.org/snomedct/85569008
property_value: exactMatch DOID:3385
property_value: exactMatch http://identifiers.org/mesh/D016585
property_value: exactMatch http://identifiers.org/snomedct/419760006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085166
property_value: exactMatch NCIT:C116973

[Term]
id: MONDO:0005317
name: obsolete fatty liver
is_obsolete: true
replaced_by: MONDO:0004790

[Term]
id: MONDO:0005318
name: canker sore
def: "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [HP:0032154, PMID:25346356]
synonym: "aphthous stomatitis" RELATED [NCIT:C62546]
synonym: "aphthous ulcer" EXACT [NCIT:C62546]
synonym: "canker sore" EXACT [NCIT:C62546]
xref: EFO:0003938 {source="MONDO:equivalentTo"}
xref: HP:0032154 {source="MONDO:otherHierarchy"}
xref: MESH:D013281 {source="MONDO:equivalentTo", source="EFO:0003938"}
xref: NCIT:C62546 {source="MONDO:equivalentTo", source="EFO:0003938"}
xref: SCTID:427617000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
is_a: MONDO:0004842 {source="MESH:D013281"} ! stomatitis
property_value: closeMatch http://identifiers.org/snomedct/196535004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038363
property_value: exactMatch http://identifiers.org/mesh/D013281
property_value: exactMatch http://identifiers.org/snomedct/427617000
property_value: exactMatch NCIT:C62546

[Term]
id: MONDO:0005319
name: humerus fracture
def: "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." [EFO:0003943]
subset: other_hierarchy
synonym: "fracture, humeral" EXACT [MESH:D006810]
synonym: "fractures, humeral" EXACT [MESH:D006810]
synonym: "humeral fracture" EXACT [MESH:D006810]
xref: COHD:442619 {source="MONDO:equivalentTo"}
xref: EFO:0003943 {source="MONDO:equivalentTo"}
xref: MESH:D006810 {source="MONDO:equivalentTo", source="EFO:0003943"}
xref: SCTID:66308002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0005315 {source="EFO:0003943", source="MESH:D006810", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone fracture
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/mesh/D006810
property_value: exactMatch http://identifiers.org/snomedct/66308002
property_value: exactMatch NCIT:C26795

[Term]
id: MONDO:0005320
name: tibia fracture
def: "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." [EFO:0003944]
subset: other_hierarchy
synonym: "bone fracture of tibia" EXACT [MONDO:design_pattern]
synonym: "tibia bone fracture" EXACT [MONDO:patterns/location]
xref: COHD:440543 {source="MONDO:equivalentTo"}
xref: EFO:0003944 {source="MONDO:equivalentTo"}
xref: MESH:D013978 {source="MONDO:equivalentTo", source="EFO:0003944"}
xref: SCTID:31978002 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0005315 {source="EFO:0003944", source="MESH:D013978", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone fracture
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/mesh/D013978
property_value: exactMatch http://identifiers.org/snomedct/31978002
property_value: exactMatch NCIT:C99083

[Term]
id: MONDO:0005321
name: Fuchs' endothelial dystrophy
def: "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." [Orphanet:98974]
subset: ordo_disease {source="Orphanet:98974"}
synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164]
synonym: "Endoepithelial corneal dystrophy" EXACT [Orphanet:98974]
synonym: "FCED" EXACT [DOID:11555]
synonym: "FECD" EXACT [Orphanet:98974]
synonym: "Fuchs endothelial corneal dystrophy" RELATED [Orphanet:98974]
synonym: "Fuchs endothelial dystrophy" EXACT [NCIT:C84721]
synonym: "Fuchs' corneal dystrophy" EXACT [DOID:11555]
synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555]
synonym: "late hereditary endothelial dystrophy" EXACT [Orphanet:98974]
xref: DC:0000643 {source="MONDO:equivalentTo"}
xref: DOID:11555 {source="MONDO:equivalentTo", source="EFO:0003946"}
xref: EFO:0003946 {source="DOID:11555", source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:98974", source="ORDO:98974/inclusion", source="ORDO:98974/ntbt"}
xref: ICD10:H18.51 {source="DOID:11555"}
xref: MESH:D005642 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946", source="MONDO:ontobio"}
xref: NCIT:C84721 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:136800 {source="MONDO:equivalentTo", source="DC:0000643"}
xref: Orphanet:98974 {source="DOID:11555", source="MONDO:equivalentTo"}
xref: SCTID:193839007 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0016781 {source="DOID:11555", source="NCIT:C84721", source="Orphanet:98974", source="MONDO:equivalentTo"}
xref: UMLS:CN207231 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000766 {source="DOID:11555", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:98974", source="linkedlifedata", source="linkedlifedata/inferred"} ! posterior corneal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/16949007
property_value: closeMatch http://identifiers.org/snomedct/393581005
property_value: exactMatch DOID:11555
property_value: exactMatch http://identifiers.org/mesh/D005642
property_value: exactMatch http://identifiers.org/snomedct/193839007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207231
property_value: exactMatch NCIT:C84721
property_value: exactMatch Orphanet:98974

[Term]
id: MONDO:0005322
name: ulna fracture
def: "Fractures of the larger bone of the forearm." [MESH:D014458]
synonym: "bone fracture of ulna" EXACT [MONDO:design_pattern]
synonym: "ulna bone fracture" EXACT [MONDO:patterns/location]
xref: COHD:4182555 {source="MONDO:equivalentTo"}
xref: EFO:0003950 {source="MONDO:equivalentTo"}
xref: MESH:D014458 {source="EFO:0003950", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:54556006 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0005315 {source="EFO:0003950", source="MESH:D014458", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone fracture
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/mesh/D014458
property_value: exactMatch http://identifiers.org/snomedct/54556006

[Term]
id: MONDO:0005323
name: bacterial sexually transmitted disease
def: "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." [MESH:D015231, MONDO:cjm]
xref: EFO:0003955 {source="MONDO:equivalentTo"}
xref: MESH:D015231 {source="MONDO:equivalentTo", source="EFO:0003955", source="MONDO:ontobio"}
xref: UMLS:C0036917 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0005113 {source="EFO:0003955", source="MESH:D015231", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0021681 {source="MESH:D015231", source="MONDO:Redundant", source="MONDOLEX:0005323"} ! sexually transmitted disease
property_value: exactMatch http://identifiers.org/mesh/D015231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036917

[Term]
id: MONDO:0005324
name: seasonal allergic rhinitis
def: "Allergic rhinitis caused by outdoor allergens." [NCIT:C92188]
synonym: "hay fever" EXACT [NCIT:C92188]
synonym: "seasonal allergic rhinitis" EXACT [NCIT:C92188]
xref: COHD:4280726 {source="MONDO:equivalentTo"}
xref: EFO:0003956 {source="MONDO:equivalentTo"}
xref: MESH:D006255 {source="MONDO:equivalentTo", source="EFO:0003956"}
xref: NCIT:C92188 {source="MONDO:kboom-pr-0.91/0.80/0.36", source="MONDO:equivalentTo", source="EFO:0003956"}
xref: SCTID:367498001 {source="MONDO:kboom-pr-0.90/0.76/0.63", source="MONDO:equivalentTo", source="EFO:0003956"}
is_a: MONDO:0011786 {source="EFO:0003956", source="MONDOLEX:0005324", source="NCIT:C92188", source="linkedlifedata"} ! allergic rhinitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018621
property_value: exactMatch http://identifiers.org/mesh/D006255
property_value: exactMatch http://identifiers.org/snomedct/367498001
property_value: exactMatch NCIT:C92188

[Term]
id: MONDO:0005325
name: radius fracture
def: "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." [EFO:0003957]
xref: EFO:0003957 {source="MONDO:equivalentTo"}
xref: MESH:D011885 {source="MONDO:equivalentTo", source="EFO:0003957", source="MONDO:ontobio"}
xref: SCTID:12676007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003957", source="MESH:D011885", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone fracture
property_value: exactMatch http://identifiers.org/mesh/D011885
property_value: exactMatch http://identifiers.org/snomedct/12676007
property_value: exactMatch NCIT:C99039

[Term]
id: MONDO:0005326
name: sunburn
def: "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." [NCIT:P378]
xref: EFO:0003958 {source="MONDO:equivalentTo"}
xref: ICD10:L55 {source="MONDO:equivalentTo"}
xref: ICD9:692.71 {source="MONDO:equivalentTo", source="i2s", source="EFO:0003958"}
xref: MESH:D013471 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003958"}
xref: SCTID:403194002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
is_a: MONDO:0005093 {source="EFO:0003958", source="MESH:D013471/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: exactMatch http://identifiers.org/mesh/D013471
property_value: exactMatch http://identifiers.org/snomedct/403194002
property_value: exactMatch NCIT:C3395

[Term]
id: MONDO:0005327
name: hip fracture
def: "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side." [NCIT:P378]
xref: EFO:0003964 {source="MONDO:equivalentTo"}
xref: MESH:D006620 {source="EFO:0003964", source="MONDO:equivalentTo"}
xref: SCTID:263225007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0005315 {source="EFO:0003964", source="MESH:D006620/inferred", source="linkedlifedata/inferred"} ! bone fracture
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/mesh/D006620
property_value: exactMatch http://identifiers.org/snomedct/263225007
property_value: exactMatch NCIT:C26794

[Term]
id: MONDO:0005328
name: eye disease
def: "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." [NCIT:C26767]
synonym: "disease of eye" EXACT [MONDO:patterns/location_top]
synonym: "disease of eyeball" RELATED []
synonym: "disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of eyeball of camera-type eye" EXACT []
synonym: "disorder of eye" EXACT [MONDO:patterns/location_top]
synonym: "disorder of eye proper" RELATED []
synonym: "disorder of eyeball" RELATED []
synonym: "disorder of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of eyeball of camera-type eye" RELATED [MONDO:patterns/location_top]
synonym: "disorder of globe" RELATED []
synonym: "eye disease" EXACT [MONDO:patterns/location, NCIT:C26767]
synonym: "eye disorder" EXACT [NCIT:C26767]
synonym: "eyeball of camera-type eye disease" EXACT [MONDO:design_pattern]
synonym: "eyeball of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:375252 {source="MONDO:equivalentTo"}
xref: DOID:5614 {source="MONDO:equivalentTo", source="EFO:0003966"}
xref: EFO:0003966 {source="MONDO:equivalentTo"}
xref: ICD10:H44 {source="DOID:5614"}
xref: ICD10:H44.9 {source="DOID:5614"}
xref: ICD9:360 {source="DOID:5614"}
xref: ICD9:360.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:360.9 {source="DOID:5614", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:379.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:379.90 {source="DOID:5614", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005128 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26767 {source="DOID:5614", source="MONDO:equivalentTo"}
xref: SCTID:371405004 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.61"}
xref: UMLS:C0015397 {source="DOID:5614", source="MONDO:equivalentTo", source="NCIT:C26767"}
is_a: MONDO:0002022 {source="DOID:5614", source="MONDO:Redundant", source="linkedlifedata"} ! disease of orbital region
is_a: MONDO:0024458 ! disease of visual system
property_value: closeMatch http://identifiers.org/snomedct/111509007
property_value: closeMatch http://identifiers.org/snomedct/155101007
property_value: closeMatch http://identifiers.org/snomedct/155198005
property_value: closeMatch http://identifiers.org/snomedct/193265001
property_value: closeMatch http://identifiers.org/snomedct/193266000
property_value: closeMatch http://identifiers.org/snomedct/193316008
property_value: closeMatch http://identifiers.org/snomedct/194183009
property_value: closeMatch http://identifiers.org/snomedct/264555006
property_value: closeMatch http://identifiers.org/snomedct/366261005
property_value: closeMatch http://identifiers.org/snomedct/79517001
property_value: exactMatch DOID:5614
property_value: exactMatch http://identifiers.org/mesh/D005128
property_value: exactMatch http://identifiers.org/snomedct/371405004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015397
property_value: exactMatch NCIT:C26767

[Term]
id: MONDO:0005329
name: obsolete vascular sarcoma
def: "A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries." [EFO:0003967]
synonym: "blood vessel sarcoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0016982

[Term]
id: MONDO:0005330
name: obsolete angiosarcoma
is_obsolete: true
replaced_by: MONDO:0016982

[Term]
id: MONDO:0005331
name: obsolete acrocephalosyndactylia
is_obsolete: true
replaced_by: MONDO:0019796

[Term]
id: MONDO:0005333
name: hyperthyroxinemia
def: "Abnormally elevated thyroxine level in the blood." [EFO:0004127]
xref: DOID:2855 {source="EFO:0004127", source="MONDO:equivalentTo"}
xref: EFO:0004127 {source="MONDO:equivalentTo"}
xref: HGNC:399 {source="EFO:0004127"}
xref: MESH:D006981 {source="EFO:0004127", source="MONDO:equivalentTo", source="DOID:2855", source="MONDO:ontobio"}
xref: UMLS:C0020551 {source="MONDO:equivalentTo", source="DOID:2855"}
is_a: MONDO:0003240 {source="DOID:2855", source="MESH:D006981"} ! thyroid gland disease
property_value: exactMatch DOID:2855
property_value: exactMatch http://identifiers.org/mesh/D006981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020551

[Term]
id: MONDO:0005334
name: hereditary nephritis
def: "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." [EFO:0004128]
synonym: "familial nephritis" RELATED [MESH:D009394]
synonym: "hereditary nephritis" EXACT [MESH:D009394, MONDO:patterns/hereditary]
synonym: "nephritis, familial" RELATED [MESH:D009394]
xref: EFO:0004128 {source="MONDO:equivalentTo"}
xref: MESH:D009394 {source="MONDO:equivalentTo", source="EFO:0004128"}
xref: SCTID:399340005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001166 {source="MESH:D009394", source="MONDO:Entailed", source="MONDO:Redundant"} ! nephritis
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0001166 ! nephritis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D009394
property_value: exactMatch http://identifiers.org/snomedct/399340005

[Term]
id: MONDO:0005335
name: colorectal neoplasm
alt_id: MONDO:0021236
def: "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2956]
synonym: "colorectal neoplasm" EXACT [NCIT:C2956]
synonym: "colorectal tumor" EXACT [NCIT:C2956]
synonym: "colorectum neoplasm" EXACT []
synonym: "colorectum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "colorectum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "large bowel neoplasm" EXACT [NCIT:C2956]
synonym: "large bowel tumor" EXACT [NCIT:C2956]
synonym: "large intestinal neoplasm" EXACT [NCIT:C2956]
synonym: "large intestine neoplasm" EXACT [NCIT:C2956]
synonym: "large intestine tumor" EXACT [NCIT:C2956]
synonym: "neoplasm of colorectum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of large bowel" EXACT [NCIT:C2956]
synonym: "neoplasm of the large bowel" EXACT [NCIT:C2956]
synonym: "tumor of colorectum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of large bowel" EXACT [NCIT:C2956]
synonym: "tumor of the large bowel" EXACT [NCIT:C2956]
xref: EFO:0004142 {source="MONDO:equivalentTo"}
xref: MESH:D015179 {source="MONDO:equivalentTo", source="EFO:0004142"}
xref: NCIT:C2956 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0004142"}
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C2956", source="OWLReasoner:2017"} ! intestinal neoplasm
is_a: MONDO:0024634 ! large intestine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009404
property_value: exactMatch http://identifiers.org/mesh/D015179
property_value: exactMatch NCIT:C2956

[Term]
id: MONDO:0005336
name: myopathy
def: "a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." [https://en.wikipedia.org/wiki/Myopathy]
comment: Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition
xref: DOID:423 {source="EFO:0004145", source="MONDO:equivalentTo"}
xref: EFO:0004145 {source="MONDO:equivalentTo"}
xref: ICD10:G72.9 {source="DOID:423"}
xref: ICD10:M60-M63 {source="DOID:423"}
xref: ICD10:M62.9 {source="DOID:423"}
xref: ICD9:359.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:359.9 {source="DOID:423", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:728.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C101216 {source="EFO:0004145", source="DOID:423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:129565002 {source="DOID:423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.32"}
xref: UMLS:C0026848 {source="DOID:423", source="MONDO:equivalentTo", source="NCIT:C101216"}
is_a: MONDO:0003939 {source="DOID:423", source="MONDO:Entailed", source="MONDO:Redundant"} ! muscle tissue disease
is_a: MONDO:0044974 ! disease of supramolecular complex
property_value: closeMatch http://identifiers.org/snomedct/155094005
property_value: closeMatch http://identifiers.org/snomedct/155099000
property_value: closeMatch http://identifiers.org/snomedct/203833006
property_value: closeMatch http://identifiers.org/snomedct/203845002
property_value: closeMatch http://identifiers.org/snomedct/267711006
property_value: closeMatch http://identifiers.org/snomedct/267714003
property_value: closeMatch http://identifiers.org/snomedct/268103006
property_value: closeMatch http://identifiers.org/snomedct/52794005
property_value: exactMatch DOID:423
property_value: exactMatch http://identifiers.org/snomedct/129565002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026848
property_value: exactMatch NCIT:C101216

[Term]
id: MONDO:0005337
name: obsolete neuropathy
is_obsolete: true
replaced_by: MONDO:0005244

[Term]
id: MONDO:0005338
name: open-angle glaucoma
def: "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." [NCIT:P378]
synonym: "glaucoma simplex" EXACT [DOID:1067]
synonym: "open angle glaucoma" EXACT [DOID:1067, NCIT:C34641]
synonym: "pigmentary glaucoma" EXACT [DOID:1067, ICD9CM_2006:365.13]
synonym: "wide-angle glaucoma" EXACT [DOID:1067, MTHICD9_2006:365.10]
xref: COHD:441284 {source="MONDO:equivalentTo"}
xref: DOID:1067 {source="EFO:0004190", source="MONDO:equivalentTo"}
xref: EFO:0004190 {source="DOID:1067", source="MONDO:equivalentTo"}
xref: ICD10:H40.1 {source="DOID:1067", source="MONDO:superClassOf"}
xref: ICD10:H40.10 {source="DOID:1067"}
xref: ICD10:H40.13 {source="DOID:1067"}
xref: ICD9:365.1 {source="DOID:1067", source="EFO:0004190"}
xref: ICD9:365.10 {source="DOID:1067", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:365.13 {source="DOID:1067", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005902 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34641 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:46168003 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.76/0.97"}
xref: SCTID:84494001 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo"}
xref: UMLS:C0017612 {source="DOID:1067", source="MONDO:equivalentTo", source="NCIT:C34641"}
is_a: MONDO:0005041 {source="DOID:1067", source="EFO:0004190", source="MESH:D005902", source="NCIT:C34641", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/111513000
property_value: closeMatch http://identifiers.org/snomedct/193538009
property_value: closeMatch http://identifiers.org/snomedct/193539001
property_value: closeMatch http://identifiers.org/snomedct/193543002
property_value: exactMatch DOID:1067
property_value: exactMatch http://identifiers.org/mesh/D005902
property_value: exactMatch http://identifiers.org/snomedct/46168003
property_value: exactMatch http://identifiers.org/snomedct/84494001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017612
property_value: exactMatch NCIT:C34641

[Term]
id: MONDO:0005339
name: androgenetic alopecia
synonym: "alopecia androgenetica, male pattern baldness" EXACT [DOID:0050801]
synonym: "androgenetic alopecia" EXACT [DOID:0050801]
synonym: "androgenic alopecia" RELATED [DOID:0050801]
synonym: "male pattern baldness" NARROW [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia]
xref: DOID:0050801 {source="MONDO:equivalentTo", source="EFO:0004191"}
xref: EFO:0004191 {source="MONDO:equivalentTo"}
xref: GARD:0009269 {source="MONDO:equivalentTo"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:87872006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
is_a: MONDO:0021208 {source="MONDO:Redundant", source="linkedlifedata"} ! endocrine alopecia
property_value: exactMatch DOID:0050801
property_value: exactMatch http://identifiers.org/snomedct/87872006

[Term]
id: MONDO:0005340
name: alopecia areata
def: "Loss of scalp and body hair involving microscopically inflammatory patchy areas." [MESH:D000506]
synonym: "alopecia areata" EXACT []
synonym: "alopecia Circumscripta" RELATED [MESH:D000506]
synonym: "alopecia circumscripta" RELATED []
synonym: "circumscribed alopecia" EXACT [DOID:986]
synonym: "patchy loss of hair" RELATED []
xref: COHD:141933 {source="MONDO:equivalentTo"}
xref: DOID:986 {source="MONDO:equivalentTo", source="EFO:0004192"}
xref: EFO:0004192 {source="DOID:986", source="MONDO:equivalentTo"}
xref: GARD:0005782 {source="MONDO:equivalentTo"}
xref: ICD10:L63 {source="DOID:986", source="MONDO:equivalentTo"}
xref: ICD10:L63.9 {source="DOID:986"}
xref: ICD9:704.01 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192", source="i2s"}
xref: MESH:D000506 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192", source="MONDO:ontobio"}
xref: SCTID:68225006 {source="DOID:986", source="MONDO:kboom-pr-1.00/0.79/8.43", source="MONDO:equivalentTo", source="EFO:0004192"}
xref: UMLS:C0002171 {source="DOID:986", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="EFO:0004192", source="MESH:D000506", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! alopecia
property_value: closeMatch http://identifiers.org/snomedct/201131001
property_value: closeMatch http://identifiers.org/snomedct/238727007
property_value: exactMatch DOID:986
property_value: exactMatch http://identifiers.org/mesh/D000506
property_value: exactMatch http://identifiers.org/snomedct/68225006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002171

[Term]
id: MONDO:0005341
name: skin basal cell carcinoma
def: "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." [NCIT:P378]
synonym: "basal cell cancer" EXACT [DOID:2513, NCIT:C2921]
synonym: "basal cell carcinoma" EXACT [NCIT:C2921]
synonym: "basal cell carcinoma NOS (morphologic abnormality)" RELATED [DOID:2513]
synonym: "basal cell carcinoma of skin" EXACT [DOID:2513, MTH:100, NCIT:C2921]
synonym: "basal cell carcinoma of the skin" EXACT [NCIT:C2921]
synonym: "basal cell epithelioma" EXACT [NCIT:C2921]
synonym: "basal cell neoplasm" EXACT [DOID:2513]
synonym: "basal cell neoplasm (morphologic abnormality)" RELATED [DOID:2513]
synonym: "basal cell neoplasm NOS (morphologic abnormality)" RELATED [DOID:2513]
synonym: "basal cell skin carcinoma" EXACT [NCIT:C2921]
synonym: "basal cell tumor" RELATED [DOID:2513, NCIT:C3784]
synonym: "basal cell tumor (morphologic abnormality)" RELATED [DOID:2513]
synonym: "BCC" EXACT [NCIT:C2921]
synonym: "epithelioma basal cell" EXACT [DOID:2513]
synonym: "malignant basal cell neoplasm" EXACT [DOID:2513, NCIT:C7586]
synonym: "malignant basal cell tumor" RELATED [DOID:2513]
synonym: "malignant basal cell tumor (morphologic abnormality)" RELATED [DOID:2513]
synonym: "Rodent ulcer" EXACT [DOID:2513]
synonym: "skin basal cell cancer" EXACT [NCIT:C2921]
synonym: "skin basal cell carcinoma" EXACT [NCIT:C2921]
xref: COHD:4112752 {source="MONDO:equivalentTo"}
xref: CSP:2000-2719 {source="DOID:2513"}
xref: DOID:2513 {source="MONDO:equivalentTo", source="EFO:0004193"}
xref: EFO:0004193 {source="MONDO:equivalentTo", source="DOID:2513"}
xref: HP:0002671 {source="MONDO:otherHierarchy", source="DOID:2513"}
xref: ICDO:8090/3 {source="NCIT:C2921"}
xref: KEGG:05217 {source="MONDO:equivalentTo", source="DOID:2513"}
xref: NCIT:C2921 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2513", source="EFO:0004193"}
xref: ONCOTREE:BCC {source="MONDO:equivalentTo"}
xref: SCTID:254701007 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2513"}
xref: UMLS:C0007117 {source="MONDO:equivalentTo", source="DOID:2513", source="MEDGEN:kboom-pr94-c94", source="NCIT:C2921"}
xref: UMLS:C0206710 {source="MONDO:equivalentTo", source="DOID:2513", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0751676 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002656 {source="DOID:2513", source="MONDO:Redundant", source="MONDOLEX:0005341", source="NCIT:C2921"} ! skin carcinoma
property_value: closeMatch http://identifiers.org/mesh/D002280
property_value: closeMatch http://identifiers.org/mesh/D018295
property_value: closeMatch http://identifiers.org/snomedct/127570002
property_value: closeMatch http://identifiers.org/snomedct/1338007
property_value: closeMatch http://identifiers.org/snomedct/154507009
property_value: closeMatch http://identifiers.org/snomedct/188083002
property_value: closeMatch http://identifiers.org/snomedct/189572008
property_value: closeMatch http://identifiers.org/snomedct/189573003
property_value: closeMatch http://identifiers.org/snomedct/189574009
property_value: closeMatch http://identifiers.org/snomedct/252995000
property_value: closeMatch http://identifiers.org/snomedct/269582000
property_value: closeMatch http://identifiers.org/snomedct/275265005
property_value: closeMatch http://identifiers.org/snomedct/30649006
property_value: closeMatch http://identifiers.org/snomedct/399049001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368295
property_value: exactMatch DOID:2513
property_value: exactMatch http://identifiers.org/snomedct/254701007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751676
property_value: exactMatch NCIT:C2921

[Term]
id: MONDO:0005342
name: IgA glomerulonephritis
def: "Inflammation of a specific segment of glomeruli within the kidney." [NCIT:P378]
synonym: "berger's disease" EXACT [NCIT:C34643]
synonym: "berger's IgA or IgG nephropathy" EXACT [DOID:2986]
synonym: "focal glomerulonephritis" EXACT [DOID:2986, NCIT:C35280]
synonym: "IgA glomerulonephritis" EXACT [DOID:2986]
synonym: "IgA nephropathy" EXACT [CSP2005:4006-0049, DOID:2986]
synonym: "primary IgA nephropathy" EXACT [DOID:2986]
synonym: "segmental glomerulonephritis" EXACT [CSP2005:1681-9807, DOID:2986]
xref: DOID:2986 {source="MONDO:equivalentTo", source="EFO:0004194"}
xref: EFO:0004194 {source="MONDO:equivalentTo", source="DOID:2986"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005922 {source="MONDO:equivalentTo", source="DOID:2986", source="EFO:0004194"}
xref: NCIT:C34643 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.20", source="DOID:2986", source="EFO:0004194"}
xref: OMIMPS:161950 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:68779003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.20", source="DOID:2986"}
xref: UMLS:C0017661 {source="MONDO:equivalentTo", source="DOID:2986", source="NCIT:C34643"}
is_a: MONDO:0002462 {source="DOID:2986", source="MESH:D005922", source="MONDOLEX:0005342", source="NCIT:C34643", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/236407003
property_value: closeMatch NCIT:C35280
property_value: exactMatch DOID:2986
property_value: exactMatch http://identifiers.org/mesh/D005922
property_value: exactMatch http://identifiers.org/snomedct/68779003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017661
property_value: exactMatch NCIT:C34643

[Term]
id: MONDO:0005343
name: obsolete viral human hepatitis
is_obsolete: true
replaced_by: MONDO:0006011

[Term]
id: MONDO:0005344
name: hepatitis B virus infection
def: "A viral infection caused by the hepatitis B virus." [NCIT:C3097]
synonym: "chronic hepatitis B" NARROW [DOID:2043]
synonym: "Hepatitis B" EXACT [NCIT:C3097]
synonym: "Hepatitis B infection" EXACT [NCIT:C3097]
synonym: "hepatitis B infection" EXACT [DOID:2043]
synonym: "Hepatitis B virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis B virus hepatitis" EXACT []
synonym: "hepatitis type B" EXACT [DOID:2043, MONDORULE:1]
synonym: "serum hepatitis" RELATED [DOID:2043, MTHICD9_2006:070.3]
synonym: "viral Hepatitis B" EXACT [NCIT:C3097]
xref: DOID:2043 {source="MONDO:equivalentTo"}
xref: EFO:0004197 {source="DOID:2043", source="MONDO:equivalentTo"}
xref: ICD9:070.30 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006509 {source="DOID:2043", source="MONDO:equivalentTo"}
xref: NCIT:C3097 {source="DOID:2043", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0004197"}
xref: SCTID:66071002 {source="DOID:2043", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0019163 {source="DOID:2043", source="NCIT:C3097", source="MONDO:equivalentTo"}
is_a: MONDO:0005786 ! Hepadnaviridae infectious disease
is_a: MONDO:0006011 {source="EFO:0004197", source="MESH:D006509", source="MONDO:Redundant", source="MONDOLEX:0005344", source="NCIT:C3097/inferred", source="linkedlifedata"} ! viral hepatitis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:2043", source="MONDO:Redundant"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/154348008
property_value: closeMatch http://identifiers.org/snomedct/186625003
property_value: closeMatch http://identifiers.org/snomedct/266195001
property_value: exactMatch DOID:2043
property_value: exactMatch http://identifiers.org/mesh/D006509
property_value: exactMatch http://identifiers.org/snomedct/66071002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019163
property_value: exactMatch NCIT:C3097

[Term]
id: MONDO:0005345
name: hypospadias (disease)
def: "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." [Orphanet:440]
subset: ordo_morphological_anomaly {source="Orphanet:440"}
synonym: "familial hypospadias" EXACT [DOID:10892]
synonym: "hypospadias" EXACT [MONDO:ambiguous]
synonym: "hypospadias familial" RELATED [GARD:0002929]
xref: COHD:196528 {source="MONDO:equivalentTo"}
xref: DOID:10892 {source="MONDO:equivalentTo", source="EFO:0004209"}
xref: EFO:0004209 {source="MONDO:equivalentTo"}
xref: GARD:0002929 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0000047 {source="MONDO:otherHierarchy", source="EFO:0004209", source="ontobio"}
xref: ICD10:Q54 {source="DOID:10892"}
xref: ICD10:Q54.0 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.1 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.2 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.3 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.4 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.8 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"}
xref: ICD10:Q54.9 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="DOID:10892", source="Orphanet:440"}
xref: ICD9:752.61 {source="EFO:0004209"}
xref: MESH:D007021 {source="MONDO:equivalentTo", source="EFO:0004209", source="MONDO:ontobio", source="DOID:10892"}
xref: NCIT:C40341 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0004209", source="DOID:10892"}
xref: OMIMPS:300633 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:440 {source="MONDO:equivalentTo", source="DOID:10892"}
xref: SCTID:416010008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0004209", source="DOID:10892"}
xref: UMLS:C0848558 {source="MONDO:equivalentTo", source="DOID:10892"}
xref: UMLS:CN205090 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015933 {source="Orphanet:440"} ! non-syndromic urogenital tract malformation of male
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1691215
property_value: exactMatch DOID:10892
property_value: exactMatch http://identifiers.org/mesh/D007021
property_value: exactMatch http://identifiers.org/snomedct/416010008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205090
property_value: exactMatch NCIT:C40341
property_value: exactMatch Orphanet:440

[Term]
id: MONDO:0005346
name: gallstones
def: "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." [MESH:D042882]
xref: EFO:0004210 {source="MONDO:equivalentTo"}
xref: ICD9:574.20 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D042882 {source="EFO:0004210", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:235919008 {source="MONDO:kboom-pr-0.75/0.46/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0005281 {source="EFO:0004210", source="MESH:D042882/inferred", source="linkedlifedata"} ! gallbladder disease
property_value: exactMatch http://identifiers.org/mesh/D042882
property_value: exactMatch http://identifiers.org/snomedct/235919008

[Term]
id: MONDO:0005347
name: hypertriglyceridemia (disease)
def: "A laboratory test result indicating elevated triglyceride concentration in the blood." [NCIT:P378]
synonym: "hypertriglyceridemia" EXACT [MONDO:ambiguous]
xref: EFO:0004211 {source="MONDO:equivalentTo"}
xref: HP:0002155 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D015228 {source="EFO:0004211", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:302870006 {source="EFO:0004211", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0020557 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="EFO:0004211", source="MESH:D015228/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch http://identifiers.org/mesh/D015228
property_value: exactMatch http://identifiers.org/snomedct/302870006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020557
property_value: exactMatch NCIT:C37971

[Term]
id: MONDO:0005348
name: keloid
def: "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." [NCIT:P378]
xref: EFO:0004212 {source="MONDO:equivalentTo"}
xref: ICD9:701.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007627 {source="EFO:0004212", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3145 {source="EFO:0004212", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:33659008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
is_a: MONDO:0006603 {source="NCIT:C3145"} ! reactive cutaneous fibrous lesion
property_value: closeMatch http://identifiers.org/snomedct/58405006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022548
property_value: exactMatch http://identifiers.org/mesh/D007627
property_value: exactMatch http://identifiers.org/snomedct/33659008
property_value: exactMatch NCIT:C3145

[Term]
id: MONDO:0005349
name: otosclerosis (disease)
def: "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." [MESH:D010040]
synonym: "otosclerosis" EXACT [MONDO:ambiguous]
xref: COHD:439035 {source="MONDO:equivalentTo"}
xref: DOID:12185 {source="EFO:0004213", source="MONDO:equivalentTo"}
xref: EFO:0004213 {source="MONDO:equivalentTo", source="DOID:12185"}
xref: HP:0000362 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H80.8 {source="DOID:12185"}
xref: ICD10:H80.80 {source="DOID:12185"}
xref: ICD9:387 {source="EFO:0004213"}
xref: ICD9:387.8 {source="MONDO:relatedTo", source="i2s", source="DOID:12185"}
xref: ICD9:387.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010040 {source="EFO:0004213", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:166800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:11543004 {source="EFO:0004213", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0029899 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002467 {source="DOID:12185"} ! inner ear disease
property_value: closeMatch http://identifiers.org/snomedct/194382008
property_value: closeMatch http://identifiers.org/snomedct/194691004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029696
property_value: closeMatch Orphanet:2794
property_value: exactMatch DOID:12185
property_value: exactMatch http://identifiers.org/mesh/D010040
property_value: exactMatch http://identifiers.org/snomedct/11543004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029899

[Term]
id: MONDO:0005350
name: abdominal aortic aneurysm
def: "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." [NCIT:P378]
synonym: "aortic aneurysm, familial abdominal 1" EXACT [DOID:7693]
xref: DOID:7693 {source="EFO:0004214", source="MONDO:equivalentTo"}
xref: EFO:0004214 {source="MONDO:equivalentTo", source="DOID:7693"}
xref: MESH:D017544 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"}
xref: SCTID:233985008 {source="MONDO:kboom-pr-0.89/0.75/0.37", source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"}
xref: UMLS:C0162871 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:7693"}
is_a: MONDO:0005160 {source="DOID:7693", source="EFO:0004214"} ! aortic aneurysm (disease)
property_value: closeMatch http://identifiers.org/snomedct/155422008
property_value: exactMatch DOID:7693
property_value: exactMatch http://identifiers.org/mesh/D017544
property_value: exactMatch http://identifiers.org/snomedct/233985008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162871
property_value: exactMatch NCIT:C27000

[Term]
id: MONDO:0005351
name: anorexia nervosa
def: "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." [NCIT:P378]
xref: COHD:436675 {source="MONDO:equivalentTo"}
xref: DOID:8689 {source="EFO:0004215", source="MONDO:equivalentTo"}
xref: EFO:0004215 {source="MONDO:equivalentTo"}
xref: ICD10:F50.0 {source="DOID:8689", source="MONDO:equivalentTo"}
xref: ICD10:F50.00 {source="DOID:8689"}
xref: ICD9:307.1 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000856 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34387 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:56882008 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005451 {source="DOID:8689", source="EFO:0004215", source="NCIT:C34387", source="linkedlifedata"} ! eating disorder
property_value: closeMatch http://identifiers.org/snomedct/154926005
property_value: closeMatch http://identifiers.org/snomedct/192445002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003125
property_value: exactMatch DOID:8689
property_value: exactMatch http://identifiers.org/mesh/D000856
property_value: exactMatch http://identifiers.org/snomedct/56882008
property_value: exactMatch NCIT:C34387

[Term]
id: MONDO:0005352
name: conduct disorder
def: "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." [NCIT:P378]
xref: COHD:443617 {source="MONDO:equivalentTo"}
xref: DOID:12995 {source="MONDO:equivalentTo", source="EFO:0004216"}
xref: EFO:0004216 {source="MONDO:equivalentTo", source="DOID:12995"}
xref: ICD10:F91 {source="DOID:12995"}
xref: ICD10:F91.9 {source="DOID:12995"}
xref: ICD9:312.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:312.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:12995"}
xref: MESH:D019955 {source="MONDO:equivalentTo", source="EFO:0004216", source="MONDO:ontobio", source="DOID:12995"}
xref: NCIT:C89329 {source="MONDO:equivalentTo", source="EFO:0004216", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:12995"}
xref: SCTID:430909002 {source="MONDO:equivalentTo", source="EFO:0004216", source="MONDO:kboom-pr-1.00/0.84/14.33", source="DOID:12995"}
is_a: MONDO:0000592 {source="DOID:12995"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/154945001
property_value: closeMatch http://identifiers.org/snomedct/192104004
property_value: closeMatch http://identifiers.org/snomedct/192106002
property_value: closeMatch http://identifiers.org/snomedct/192597006
property_value: closeMatch http://identifiers.org/snomedct/192603009
property_value: closeMatch http://identifiers.org/snomedct/268782006
property_value: closeMatch http://identifiers.org/snomedct/268785008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149654
property_value: exactMatch DOID:12995
property_value: exactMatch http://identifiers.org/mesh/D019955
property_value: exactMatch http://identifiers.org/snomedct/430909002
property_value: exactMatch NCIT:C89329

[Term]
id: MONDO:0005353
name: obsolete marijuana dependence
def: "The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." [EFO:0004218]
is_obsolete: true
replaced_by: MONDO:0005689

[Term]
id: MONDO:0005354
name: chronic hepatitis C virus infection
def: "Chronic form of hepatitis C infection." [MONDO:patterns/chronic]
synonym: "chronic Hepatitis C" EXACT [MESH:D019698]
synonym: "hepatitis C infection, chronic" EXACT [MONDO:patterns/chronic]
synonym: "hepatitis C, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:198964 {source="MONDO:equivalentTo"}
xref: EFO:0004220 {source="MONDO:equivalentTo"}
xref: ICD9:070.44 {source="EFO:0004220"}
xref: MESH:D019698 {source="MONDO:equivalentTo", source="EFO:0004220"}
is_a: MONDO:0005231 {source="EFO:0004220", source="MESH:D019698", source="MONDO:Redundant", source="MONDOLEX:0005354"} ! hepatitis C virus infection
property_value: exactMatch http://identifiers.org/mesh/D019698

[Term]
id: MONDO:0005355
name: coronary restenosis
def: "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." [MESH:D023903]
xref: DOID:4247 {source="EFO:0004224", source="MONDO:equivalentTo"}
xref: EFO:0004224 {source="MONDO:equivalentTo"}
xref: MESH:D023903 {source="EFO:0004224", source="DOID:4247", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0948480 {source="DOID:4247", source="MONDO:equivalentTo"}
is_a: MONDO:0006715 {source="DOID:4247", source="MESH:D023903"} ! coronary stenosis
property_value: exactMatch DOID:4247
property_value: exactMatch http://identifiers.org/mesh/D023903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948480

[Term]
id: MONDO:0005356
name: coronary vasospasm
def: "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." [NCIT:P378]
synonym: "coronary artery spasm" EXACT [DOID:11840]
synonym: "coronary artery vasospasm" RELATED [DOID:11840]
synonym: "coronary vasospasm" EXACT [DOID:11840, NCIT:C34515]
xref: DOID:11840 {source="EFO:0004225", source="MONDO:equivalentTo"}
xref: EFO:0004225 {source="MONDO:equivalentTo"}
xref: ICD9:413.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003329 {source="EFO:0004225", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11840"}
xref: SCTID:23687008 {source="MONDO:equivalentTo", source="DOID:11840", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010073 {source="MONDO:equivalentTo", source="DOID:11840"}
is_a: MONDO:0005010 {source="DOID:11840", source="EFO:0004225", source="linkedlifedata"} ! coronary artery disease
property_value: exactMatch DOID:11840
property_value: exactMatch http://identifiers.org/mesh/D003329
property_value: exactMatch http://identifiers.org/snomedct/23687008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010073
property_value: exactMatch NCIT:C34515

[Term]
id: MONDO:0005357
name: Creutzfeldt Jacob disease
def: "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." [NCIT:P378]
synonym: "CJD" EXACT [DOID:11949]
synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [CSP2005:2042-5006, DOID:11949]
synonym: "classic Creutzfeldt-Jakob disease" EXACT [NCIT:C26802]
synonym: "Creutzfeldt Jacob syndrome" EXACT [DOID:11949]
synonym: "Creutzfeldt Jakob disease" EXACT [DOID:11949]
synonym: "Creutzfeldt-Jacob disease" EXACT [DOID:11949, NCIT:C26802]
synonym: "Creutzfeldt-Jakob disease" RELATED [DOID:11949]
synonym: "Jakob-Creutzfeldt disease" EXACT [DOID:11949, ICD9CM_2006:046.1]
synonym: "Subacute spongiform encephalopathy" EXACT [DOID:11949, MTHICD9_2006:046.1]
synonym: "transmissible virus dementia" EXACT [DOID:11949]
xref: COHD:372241 {source="MONDO:equivalentTo"}
xref: DOID:11949 {source="EFO:0004226", source="MONDO:equivalentTo"}
xref: EFO:0004226 {source="MONDO:equivalentTo", source="DOID:11949"}
xref: GARD:0006956 {source="MONDO:equivalentTo"}
xref: ICD10:A81.0 {source="DOID:11949"}
xref: ICD10:A81.00 {source="DOID:11949"}
xref: ICD9:046.1 {source="MONDO:equivalentTo", source="DOID:11949", source="i2s"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007562 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949"}
xref: NCIT:C26802 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949", source="MONDO:kboom-pr-0.89/0.75/0.40"}
xref: SCTID:792004 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="MONDO:equivalentTo", source="DOID:11949"}
is_a: MONDO:0005429 {source="DOID:11949", source="EFO:0004226", source="MESH:D007562", source="MONDOLEX:0005357"} ! prion disease
property_value: closeMatch http://identifiers.org/snomedct/155061007
property_value: closeMatch http://identifiers.org/snomedct/79358009
property_value: exactMatch DOID:11949
property_value: exactMatch http://identifiers.org/mesh/D007562
property_value: exactMatch http://identifiers.org/snomedct/792004
property_value: exactMatch NCIT:C26802

[Term]
id: MONDO:0005358
name: Dengue hemorrhagic fever
def: "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." [NCIT:P378]
synonym: "Dengue haemorrhagic fever" RELATED [DOID:12206]
synonym: "DHF" EXACT [DOID:12206]
xref: DOID:12206 {source="MONDO:equivalentTo", source="EFO:0004227"}
xref: EFO:0004227 {source="MONDO:equivalentTo"}
xref: ICD10:A91 {source="DOID:12206", source="MONDO:equivalentTo"}
xref: NCIT:C34683 {source="DOID:12206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0004227"}
xref: SCTID:20927009 {source="DOID:12206", source="MONDO:equivalentTo", source="EFO:0004227", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005502 {source="DOID:12206", source="EFO:0004227", source="NCIT:C34683", source="linkedlifedata"} ! dengue disease
property_value: closeMatch http://identifiers.org/snomedct/186598001
property_value: closeMatch http://identifiers.org/snomedct/186599009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019100
property_value: exactMatch DOID:12206
property_value: exactMatch http://identifiers.org/snomedct/20927009
property_value: exactMatch NCIT:C34683

[Term]
id: MONDO:0005359
name: drug-induced liver injury
def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." [MESH:D056486]
xref: EFO:0004228 {source="MONDO:equivalentTo"}
xref: MESH:D056486 {source="EFO:0004228", source="MONDO:equivalentTo"}
xref: SCTID:197352008 {source="EFO:0004228", source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="EFO:0004228", source="MESH:D056486", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! liver disease
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/mesh/D056486
property_value: exactMatch http://identifiers.org/snomedct/197352008

[Term]
id: MONDO:0005360
name: obsolete Dupuytren contracture (disease)
is_obsolete: true
replaced_by: MONDO:0006345

[Term]
id: MONDO:0005361
name: eosinophilic esophagitis
def: "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." [Orphanet:73247]
subset: ordo_disease {source="Orphanet:73247"}
synonym: "EoE" EXACT [Orphanet:73247]
xref: COHD:27918 {source="MONDO:equivalentTo"}
xref: DOID:13922 {source="EFO:0004232", source="MONDO:equivalentTo"}
xref: EFO:0004232 {source="DOID:13922", source="MONDO:equivalentTo"}
xref: ICD10:K20 {source="Orphanet:73247", source="ORDO:73247/ntbt"}
xref: ICD10:K20.0 {source="DOID:13922", source="MONDO:equivalentTo"}
xref: ICD9:530.13 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10064212 {source="ORDO:73247/e", source="Orphanet:73247"}
xref: MESH:D057765 {source="EFO:0004232", source="DOID:13922", source="ORDO:73247/e", source="Orphanet:73247", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27105 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:73247 {source="DOID:13922", source="MONDO:equivalentTo"}
xref: SCTID:235599003 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0341106 {source="DOID:13922", source="ORDO:73247/e", source="Orphanet:73247", source="MONDO:equivalentTo", source="NCIT:C27105"}
is_a: MONDO:0001409 {source="DOID:13922", source="MESH:D057765", source="NCIT:C27105"} ! esophagitis (disease)
is_a: MONDO:0018438 {source="Orphanet:73247"} ! eosinophilic gastrointestinal disease
property_value: exactMatch DOID:13922
property_value: exactMatch http://identifiers.org/meddra/10064212
property_value: exactMatch http://identifiers.org/mesh/D057765
property_value: exactMatch http://identifiers.org/snomedct/235599003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341106
property_value: exactMatch NCIT:C27105
property_value: exactMatch Orphanet:73247

[Term]
id: MONDO:0005362
name: erectile dysfunction (disease)
def: "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity." [NCIT:P378]
synonym: "dysfunction, erectile" RELATED [MESH:D007172]
synonym: "erectile dysfunction" EXACT [DOID:1875, MONDO:ambiguous]
synonym: "impotence" RELATED [DOID:1875, MESH:D007172]
synonym: "impotence, male" RELATED [MESH:D007172]
synonym: "impotence, male sexual" RELATED [MESH:D007172]
synonym: "male erectile Disorder" EXACT [NCIT:C34801]
synonym: "male impotence" RELATED [MESH:D007172]
synonym: "male sexual impotence" RELATED [MESH:D007172]
synonym: "sexual impotence" EXACT [DOID:1875]
synonym: "sexual impotence (finding)" EXACT [DOID:1875]
synonym: "sexual impotence, Male" RELATED [MESH:D007172]
xref: DOID:1875 {source="EFO:0004234", source="MONDO:equivalentTo"}
xref: EFO:0004234 {source="MONDO:equivalentTo", source="DOID:1875"}
xref: HP:0000802 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D007172 {source="EFO:0004234", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34801 {source="MONDO:equivalentTo"}
xref: SCTID:397803000 {source="EFO:0004234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
is_a: MONDO:0002036 ! penile disease
is_a: MONDO:0002134 {source="DOID:1875", source="MESH:D007172"} ! physiological sexual disorder
property_value: exactMatch DOID:1875
property_value: exactMatch http://identifiers.org/mesh/D007172
property_value: exactMatch http://identifiers.org/snomedct/397803000
property_value: exactMatch NCIT:C3133
property_value: exactMatch NCIT:C34801

[Term]
id: MONDO:0005363
name: focal segmental glomerulosclerosis
def: "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." [NCIT:P378]
synonym: "FGS" EXACT [DOID:1312]
synonym: "FGS (focal glomerular sclerosis)" EXACT [CSP2005:4003-0020, DOID:1312]
synonym: "focal glomerular sclerosis" EXACT [DOID:1312]
synonym: "focal glomerulosclerosis" EXACT [DOID:1312]
synonym: "FSGS" EXACT [DOID:1312]
synonym: "FSGS - focal segmental glomerulosclerosis" EXACT [NCIT:C37308]
xref: DOID:1312 {source="EFO:0004236", source="MONDO:equivalentTo"}
xref: EFO:0004236 {source="MONDO:equivalentTo", source="DOID:1312"}
xref: GARD:0006517 {source="MONDO:equivalentTo"}
xref: ICD9:582.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005923 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312", source="MONDO:ontobio"}
xref: NCIT:C37308 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312", source="MONDO:kboom-pr-0.91/0.79/0.38"}
xref: OMIMPS:603278 {source="MONDO:equivalentTo", source="DOID:1312"}
xref: SCTID:236403004 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:CN043606 {source="MONDO:equivalentTo"}
is_a: MONDO:0000490 {source="DOID:1312", source="linkedlifedata"} ! glomerulosclerosis
property_value: closeMatch http://identifiers.org/snomedct/25821008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017668
property_value: exactMatch DOID:1312
property_value: exactMatch http://identifiers.org/mesh/D005923
property_value: exactMatch http://identifiers.org/snomedct/236403004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043606
property_value: exactMatch NCIT:C37308

[Term]
id: MONDO:0005364
name: Graves disease
def: "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland ( hyperthyroidism ).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy , antithyroid drugs, and/or thyroid surgery." [https://rarediseases.info.nih.gov/diseases/6549/graves-disease]
subset: gard_rare {source="GARD:0006549"}
synonym: "Basedow disease" RELATED [GARD:0006549]
synonym: "Basedow's disease" RELATED [DOID:12361]
synonym: "exophthalmic goiter" EXACT [CSP2005:2928-6602, DOID:12361]
synonym: "grave's disease" EXACT [DOID:12361]
synonym: "Graves disease" EXACT [DOID:12361]
synonym: "Graves' disease" RELATED [DOID:12361]
synonym: "Graves' hyperthyroidism" RELATED [GARD:0006549]
synonym: "parry disease" RELATED [GARD:0006549]
xref: DOID:12361 {source="EFO:0004237", source="MONDO:equivalentTo"}
xref: EFO:0004237 {source="MONDO:equivalentTo", source="DOID:12361"}
xref: GARD:0006549 {source="MONDO:equivalentTo"}
xref: ICD10:E05.0 {source="DOID:12361"}
xref: ICD9:242.0 {source="EFO:0004237"}
xref: MESH:D006111 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"}
xref: NCIT:C3071 {source="EFO:0004237", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:12361"}
xref: SCTID:353295004 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"}
is_a: MONDO:0001104 {source="consider merging", source="https://emedicine.medscape.com/article/120140-overview"} ! toxic diffuse goiter
is_a: MONDO:0005397 {source="MESH:D006111", source="NCIT:C3071", source="linkedlifedata", source="linkedlifedata/inferred"} ! goiter (disease)
is_a: MONDO:0005623 {source="EFO:0004237"} ! autoimmune thyroid disease
property_value: closeMatch http://identifiers.org/snomedct/154655004
property_value: closeMatch http://identifiers.org/snomedct/190240002
property_value: closeMatch http://identifiers.org/snomedct/237510004
property_value: closeMatch http://identifiers.org/snomedct/237823003
property_value: closeMatch http://identifiers.org/snomedct/267464006
property_value: closeMatch http://identifiers.org/snomedct/367367004
property_value: closeMatch http://identifiers.org/snomedct/367449005
property_value: closeMatch http://identifiers.org/snomedct/38591003
property_value: closeMatch http://identifiers.org/snomedct/55807009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018213
property_value: exactMatch DOID:12361
property_value: exactMatch http://identifiers.org/mesh/D006111
property_value: exactMatch http://identifiers.org/snomedct/353295004
property_value: exactMatch NCIT:C3071
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6549/graves-disease xsd:anyURI {source="GARD:0006549"}

[Term]
id: MONDO:0005365
name: hearing loss disorder
def: "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." [NCIT:C35731]
synonym: "deafness" NARROW [MONDO:cjm]
synonym: "hearing impairment" EXACT [MESH:D034381]
synonym: "hearing loss" EXACT [NCIT:C35731]
synonym: "hypoacuses" EXACT [MESH:D034381]
synonym: "hypoacusis" EXACT [MESH:D034381]
synonym: "loss of hearing" EXACT [NCIT:C35731]
synonym: "loss, hearing" EXACT [MESH:D034381]
xref: COHD:377889 {source="MONDO:equivalentTo"}
xref: EFO:0004238 {source="MONDO:equivalentTo"}
xref: ICD10:H90 {source="MONDO:equivalentTo"}
xref: ICD9:389 {source="EFO:0004238"}
xref: ICD9:389.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:389.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D034381 {source="MONDO:equivalentTo", source="EFO:0004238", source="MONDO:ontobio"}
xref: NCIT:C35731 {source="MONDO:equivalentTo", source="EFO:0004238", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:15188001 {source="MONDO:kboom-pr-1.00/0.84/14.84", source="MONDO:equivalentTo", source="EFO:0004238"}
xref: UMLS:C1384666 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021945 {source="MESH:D034381", source="MONDO:Redundant", source="NCIT:C35731/inferred", source="linkedlifedata"} ! hearing disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887873
property_value: exactMatch http://identifiers.org/mesh/D034381
property_value: exactMatch http://identifiers.org/snomedct/15188001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384666
property_value: exactMatch NCIT:C35731

[Term]
id: MONDO:0005366
name: chronic hepatitis B virus infection
def: "Chronic form of hepatitis B infection." [MONDO:patterns/chronic]
synonym: "chronic Hepatitis B" EXACT [MESH:D019694]
synonym: "hepatitis B infection, chronic" EXACT [MONDO:patterns/chronic]
synonym: "hepatitis B, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0004239 {source="MONDO:equivalentTo"}
xref: MESH:D019694 {source="EFO:0004239", source="MONDO:equivalentTo"}
xref: UMLS:C0524909 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005344 {source="EFO:0004239", source="MESH:D019694", source="MONDO:Redundant", source="MONDOLEX:0005366"} ! hepatitis B virus infection
property_value: exactMatch http://identifiers.org/mesh/D019694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524909

[Term]
id: MONDO:0005367
name: heroin dependence
def: "Physical and psychological dependence on the drug heroin." [NCIT:P378]
synonym: "Heroin addiction" EXACT [NCIT:C34694]
xref: DOID:9976 {source="MONDO:equivalentTo", source="EFO:0004240"}
xref: EFO:0004240 {source="MONDO:equivalentTo"}
xref: MESH:D006556 {source="DOID:9976", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0004240"}
xref: NCIT:C34694 {source="DOID:9976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0004240"}
xref: SCTID:231477003 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN236651 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005530 {source="DOID:9976", source="EFO:0004240", source="MESH:D006556", source="linkedlifedata"} ! opiate dependence
property_value: closeMatch http://identifiers.org/snomedct/191817000
property_value: closeMatch http://identifiers.org/snomedct/192220003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019337
property_value: exactMatch DOID:9976
property_value: exactMatch http://identifiers.org/mesh/D006556
property_value: exactMatch http://identifiers.org/snomedct/231477003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236651
property_value: exactMatch NCIT:C34694

[Term]
id: MONDO:0005368
name: obsolete obsessive-compulsive disorder
is_obsolete: true
replaced_by: MONDO:0008114

[Term]
id: MONDO:0005369
name: carcinoid tumor (disease)
def: "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." [NCIT:C2915]
comment: Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources
synonym: "carcinoid" EXACT [NCIT:C2915]
synonym: "carcinoid tumor" EXACT [MONDO:ambiguous, NCIT:C2915]
synonym: "NET G1" EXACT [MONDO:cjm]
synonym: "neuroendocrine neoplasm G1" EXACT [MONDO:cjm]
synonym: "neuroendocrine tumor G1" EXACT [MONDO:cjm]
xref: EFO:0004243 {source="MONDO:equivalentTo"}
xref: GARD:0009316 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100570 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:209.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:8240/3 {source="NCIT:C2915"}
xref: ICDO:8241/3 {source="NCIT:C2915"}
xref: MESH:D002276 {source="EFO:0004243", source="MONDO:equivalentTo"}
xref: NCIT:C2915 {source="EFO:0004243", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:443492008 {source="EFO:0004243", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019496 {source="MESH:D002276", source="NCIT:C2915", source="linkedlifedata"} ! neuroendocrine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/81622000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007095
property_value: exactMatch http://identifiers.org/mesh/D002276
property_value: exactMatch http://identifiers.org/snomedct/443492008
property_value: exactMatch NCIT:C2915

[Term]
id: MONDO:0005370
name: obsolete interstitial lung disease
is_obsolete: true
replaced_by: MONDO:0015925

[Term]
id: MONDO:0005371
name: mood disorder
def: "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." [https://en.wikipedia.org/wiki/Mood_disorder]
synonym: "episodic mood disorder" NARROW []
xref: COHD:444100 {source="MONDO:equivalentTo"}
xref: DOID:3324 {source="EFO:0004247", source="MONDO:equivalentTo"}
xref: EFO:0004247 {source="DOID:3324", source="MONDO:equivalentTo"}
xref: ICD10:F30-F39 {source="DOID:3324"}
xref: ICD10:F30.F39 {source="MONDO:equivalentTo"}
xref: ICD10:F39 {source="DOID:3324"}
xref: ICD9:296.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019964 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C92200 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:46206005 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:CN236678 {source="MONDO:equivalentTo"}
is_a: MONDO:0005084 {source="EFO:0004247", source="ICD10:F30.F39", source="linkedlifedata"} ! mental disorder
property_value: closeMatch http://identifiers.org/snomedct/192348001
property_value: closeMatch http://identifiers.org/snomedct/192391006
property_value: closeMatch http://identifiers.org/snomedct/268713007
property_value: closeMatch http://identifiers.org/snomedct/74421008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0525045
property_value: exactMatch DOID:3324
property_value: exactMatch http://identifiers.org/mesh/D019964
property_value: exactMatch http://identifiers.org/snomedct/46206005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236678
property_value: exactMatch NCIT:C92200

[Term]
id: MONDO:0005372
name: male infertility
def: "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248]
synonym: "infertility disorder of male reproductive system" EXACT [MONDO:design_pattern]
synonym: "male reproductive system infertility" EXACT [MONDO:patterns/location]
synonym: "male reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:198197 {source="MONDO:equivalentTo"}
xref: DOID:12336 {source="EFO:0004248", source="MONDO:equivalentTo"}
xref: EFO:0004248 {source="MONDO:equivalentTo"}
xref: ICD10:N46 {source="DOID:12336", source="MONDO:equivalentTo"}
xref: ICD10:N46.9 {source="DOID:12336"}
xref: ICD9:606 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"}
xref: ICD9:606.9 {source="DOID:12336", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007248 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:2904007 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0021364 {source="DOID:12336", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="DOID:12336", source="ICD10:N46", source="MESH:D007248/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! male reproductive system disease
is_a: MONDO:0005047 {source="EFO:0004248", source="MESH:D007248", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility disorder
property_value: closeMatch http://identifiers.org/snomedct/155924001
property_value: closeMatch http://identifiers.org/snomedct/198018002
property_value: exactMatch DOID:12336
property_value: exactMatch http://identifiers.org/mesh/D007248
property_value: exactMatch http://identifiers.org/snomedct/2904007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021364

[Term]
id: MONDO:0005373
name: meningococcal infection
def: "Infections with bacteria of the species neisseria meningitidis." [MESH:D008589]
subset: gard_rare {source="GARD:0009547"}
synonym: "infections, Neisseria meningitidis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "meningococcal disease" RELATED [GARD:0007169]
synonym: "Neisseria meningitidis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: EFO:0004249 {source="MONDO:equivalentTo"}
xref: GARD:0007169 {source="MONDO:equivalentTo"}
xref: GARD:0009547 {source="MONDO:equivalentTo"}
xref: ICD10:A39 {source="MONDO:equivalentTo"}
xref: ICD9:036 {source="EFO:0004249"}
xref: ICD9:036.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:036.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008589 {source="MONDO:equivalentTo", source="EFO:0004249", source="MONDO:ontobio"}
xref: SCTID:23511006 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0025303 {source="GARD:0009547", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:0004249", source="MESH:D008589/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D008589
property_value: exactMatch http://identifiers.org/snomedct/23511006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025303
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection xsd:anyURI {source="GARD:0009547"}

[Term]
id: MONDO:0005374
name: bone marrow neoplasm
def: "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." [NCIT:C35370]
synonym: "bone marrow cancer" RELATED [DOID:4960]
synonym: "bone marrow neoplasm" EXACT [CSP2005:2004-0492, DOID:4960, NCIT:C35370]
synonym: "bone marrow neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bone marrow tumor" EXACT [DOID:4960, MONDO:patterns/neoplasm, NCIT:C35370]
synonym: "malignant bone marrow tumor" EXACT [DOID:4960]
synonym: "malignant neoplasm of bone marrow" EXACT EXCLUDE [DOID:4960]
synonym: "neoplasm of bone marrow" EXACT [MONDO:patterns/neoplasm, NCIT:C35370]
synonym: "tumor of bone marrow" EXACT [MONDO:patterns/neoplasm]
xref: DOID:4960 {source="MONDO:equivalentTo"}
xref: ICD10:D47.1 {source="DOID:4960"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019046 {source="MONDO:equivalentTo"}
xref: NCIT:C35370 {source="MONDO:equivalentTo"}
xref: SCTID:414824005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282609 {source="NCIT:C35370", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002334 {source="DOID:4960/inferred", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0003225 {source="DOID:4960", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370", source="linkedlifedata"} ! bone marrow disease
property_value: closeMatch http://identifiers.org/snomedct/128925001
property_value: closeMatch http://identifiers.org/snomedct/188772004
property_value: closeMatch http://identifiers.org/snomedct/20921005
property_value: closeMatch http://identifiers.org/snomedct/414794006
property_value: exactMatch DOID:4960
property_value: exactMatch http://identifiers.org/mesh/D019046
property_value: exactMatch http://identifiers.org/snomedct/414824005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282609
property_value: exactMatch NCIT:C35370

[Term]
id: MONDO:0005375
name: nasopharyngeal neoplasm
alt_id: MONDO:0021362
def: "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." [NCIT:C3257]
synonym: "nasopharyngeal neoplasms" EXACT [NCIT:C3257]
synonym: "nasopharyngeal tumor" EXACT [NCIT:C3257]
synonym: "nasopharynx neoplasm" EXACT []
synonym: "nasopharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nasopharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257]
synonym: "neoplasm of the nasopharynx" EXACT [NCIT:C3257]
synonym: "tumor of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257]
synonym: "tumor of the nasopharynx" EXACT [NCIT:C3257]
xref: EFO:0004252 {source="MONDO:equivalentTo"}
xref: MESH:D009303 {source="MONDO:equivalentTo", source="EFO:0004252"}
xref: NCIT:C3257 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0004252"}
xref: SCTID:126680004 {source="MONDO:equivalentTo"}
xref: UMLS:C0027439 {source="MONDO:equivalentTo", source="NCIT:C3257", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0004821 {source="MESH:D009303", source="MONDO:Redundant", source="NCIT:C3257", source="linkedlifedata"} ! nasopharyngeal disease
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0020641 ! respiratory tract neoplasm
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3257"} ! pharynx neoplasm
property_value: closeMatch http://identifiers.org/snomedct/449248000
property_value: exactMatch http://identifiers.org/mesh/D009303
property_value: exactMatch http://identifiers.org/snomedct/126680004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027439
property_value: exactMatch NCIT:C3257

[Term]
id: MONDO:0005376
name: membranous glomerulonephritis
def: "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." [NCIT:C34645]
synonym: "membranous Glomerulonephropathy" EXACT [NCIT:C34645]
synonym: "membranous nephropathy" EXACT [CSP2005:4006-0062, DOID:10976]
xref: COHD:252365 {source="MONDO:equivalentTo"}
xref: DOID:10976 {source="EFO:0004254", source="MONDO:equivalentTo"}
xref: EFO:0004254 {source="DOID:10976", source="MONDO:equivalentTo"}
xref: ICD10:N03.2 {source="DOID:10976"}
xref: ICD9:582.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:583.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D015433 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"}
xref: NCIT:C34645 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:77182004 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017665 {source="DOID:10976", source="MONDO:equivalentTo", source="NCIT:C34645"}
is_a: MONDO:0002462 {source="DOID:10976", source="MESH:D015433", source="MONDOLEX:0005376", source="NCIT:C34645", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
property_value: closeMatch http://identifiers.org/snomedct/197710000
property_value: exactMatch DOID:10976
property_value: exactMatch http://identifiers.org/mesh/D015433
property_value: exactMatch http://identifiers.org/snomedct/77182004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017665
property_value: exactMatch NCIT:C34645

[Term]
id: MONDO:0005377
name: nephrotic syndrome
def: "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." [NCIT:C34845]
synonym: "Finnish congenital nephrosis" EXACT EXCLUDE [DOID:1184]
synonym: "nephrosis" RELATED [NCIT:C34845]
synonym: "nephrotic syndrome" EXACT [NCIT:C34845]
synonym: "nephrotic syndromes" EXACT [MESH:D009404]
synonym: "syndrome, nephrotic" EXACT [MESH:D009404]
synonym: "syndromes, nephrotic" EXACT [MESH:D009404]
xref: COHD:195314 {source="MONDO:equivalentTo"}
xref: DOID:1184 {source="EFO:0004255", source="MONDO:equivalentTo"}
xref: EFO:0004255 {source="MONDO:equivalentTo"}
xref: ICD10:N04 {source="DOID:1184"}
xref: ICD9:581 {source="EFO:0004255", source="DOID:1184"}
xref: ICD9:581.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009404 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: NCIT:C34845 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: SCTID:52254009 {source="EFO:0004255", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1184"}
xref: UMLS:C0027726 {source="MONDO:equivalentTo", source="DOID:1184", source="NCIT:C34845"}
is_a: MONDO:0002254 {source="MONDOLEX:0005377", source="NCIT:C34845"} ! syndromic disease
is_a: MONDO:0002331 {source="DOID:1184", source="MESH:D009404"} ! nephrosis
property_value: closeMatch http://identifiers.org/snomedct/155851004
property_value: closeMatch http://identifiers.org/snomedct/197611005
property_value: exactMatch DOID:1184
property_value: exactMatch http://identifiers.org/mesh/D009404
property_value: exactMatch http://identifiers.org/snomedct/52254009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027726
property_value: exactMatch NCIT:C34845

[Term]
id: MONDO:0005378
name: obsolete neuromyelitis optica
is_obsolete: true
replaced_by: MONDO:0019100

[Term]
id: MONDO:0005379
name: neurotic disorder
def: "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." [NCIT:C34848]
synonym: "depressive neurosis" NARROW [DOID:4964, MTH:NOCODE]
synonym: "disorder, neurotic" RELATED [MESH:D009497]
synonym: "disorders, neurotic" RELATED [MESH:D009497]
synonym: "neuroses" RELATED [MESH:D009497]
synonym: "neurosis" EXACT [CSP2005:2483-6707, DOID:4964, NCIT:C34848]
synonym: "neurotic depression" NARROW [DOID:4964]
synonym: "neurotic depression reactive type" NARROW [DOID:4964]
synonym: "neurotic depressive state" NARROW [DOID:4964, MTHICD9_2006:300.4]
synonym: "neurotic disorder" EXACT [MESH:D009497]
synonym: "Psychoneuroses" RELATED [MESH:D009497]
synonym: "psychoneurosis" EXACT [DOID:4964]
synonym: "psychoneurosis NOS" NARROW [DOID:4964, MTHICD9_2006:300.9]
synonym: "reactive depression" NARROW [DOID:4964]
xref: COHD:444243 {source="MONDO:equivalentTo"}
xref: DOID:4964 {source="EFO:0004257", source="MONDO:equivalentTo"}
xref: EFO:0004257 {source="MONDO:equivalentTo"}
xref: ICD10:F34.1 {source="MONDO:relatedTo", source="DOID:4964"}
xref: ICD10:F48.9 {source="DOID:4964"}
xref: ICD9:300.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:300.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009497 {source="EFO:0004257", source="MONDO:equivalentTo", source="DOID:4964"}
xref: NCIT:C34848 {source="MONDO:equivalentTo", source="DOID:4964"}
xref: SCTID:111475002 {source="MONDO:equivalentTo", source="DOID:4964"}
is_a: MONDO:0005618 {source="DOID:4964", source="MESH:D009497", source="NCIT:C34848"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/mesh/C564323
property_value: closeMatch http://identifiers.org/snomedct/154881002
property_value: closeMatch http://identifiers.org/snomedct/154889000
property_value: closeMatch http://identifiers.org/snomedct/191740008
property_value: closeMatch http://identifiers.org/snomedct/191748001
property_value: closeMatch http://identifiers.org/snomedct/192372006
property_value: closeMatch http://identifiers.org/snomedct/192442004
property_value: closeMatch http://identifiers.org/snomedct/268632008
property_value: closeMatch http://identifiers.org/snomedct/268753005
property_value: closeMatch http://identifiers.org/snomedct/87414006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027932
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282126
property_value: closeMatch NCIT:C34533
property_value: exactMatch DOID:4964
property_value: exactMatch http://identifiers.org/mesh/D009497
property_value: exactMatch http://identifiers.org/snomedct/111475002
property_value: exactMatch NCIT:C34848

[Term]
id: MONDO:0005380
name: osteonecrosis
def: "A none disease characterized by death of bone tissue due to a lack of blood supply." [https://www.mayoclinic.org/diseases-conditions/avascular-necrosis/symptoms-causes/syc-20369859]
subset: ordo_group_of_disorders {source="Orphanet:399158"}
synonym: "aseptic necrosis" EXACT [DOID:10159]
synonym: "avascular necrosis" EXACT [https://en.wikipedia.org/wiki/Avascular_necrosis]
synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841]
synonym: "bone necrosis" EXACT [CSP2005:2715-1650, DOID:10159, NCIT:C34880, Orphanet:399158]
synonym: "ischemic bone disease" EXACT [MONDO:0000835]
synonym: "osteonecrosis" EXACT [NCIT:C34880]
xref: COHD:4344387 {source="MONDO:equivalentTo"}
xref: DOID:0080008 {source="MONDO:equivalentTo"}
xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo"}
xref: EFO:0004259 {source="MONDO:equivalentTo"}
xref: GARD:0012057 {source="MONDO:equivalentTo"}
xref: ICD10:M87 {source="DOID:10159", source="MONDO:equivalentTo"}
xref: ICD10:M87.0 {source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD10:M87.1 {source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD10:M87.2 {source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD10:M87.3 {source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD10:M87.8 {source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD10:M87.9 {source="DOID:10159", source="Orphanet:399158", source="ORDO:399158/ntbt"}
xref: ICD9:732.3 {source="DOID:10159"}
xref: ICD9:733.4 {source="EFO:0004259"}
xref: ICD9:733.41 {source="DOID:10159"}
xref: ICD9:733.42 {source="DOID:10159"}
xref: ICD9:733.43 {source="DOID:10159"}
xref: ICD9:733.44 {source="DOID:10159"}
xref: ICD9:733.49 {source="DOID:10159"}
xref: MESH:D010020 {source="DOID:10159", source="EFO:0004259", source="MONDO:equivalentTo"}
xref: NCIT:C34880 {source="DOID:10159", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: NCIT:C35476 {source="EFO:0004259", source="MONDO:equivalentTo"}
xref: Orphanet:399158 {source="MONDO:equivalentTo"}
xref: SCTID:240196003 {source="DOID:10159", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:399158"} ! bone disease
relationship: excluded_subClassOf MONDO:0015940 {source="Orphanet:399158"} ! obsolete rare rheumatologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019684"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156837008
property_value: closeMatch http://identifiers.org/snomedct/17926002
property_value: closeMatch http://identifiers.org/snomedct/203487006
property_value: closeMatch http://identifiers.org/snomedct/29281007
property_value: closeMatch http://identifiers.org/snomedct/34686004
property_value: closeMatch http://identifiers.org/snomedct/398199007
property_value: closeMatch http://identifiers.org/snomedct/43453000
property_value: closeMatch http://identifiers.org/snomedct/62100001
property_value: closeMatch http://identifiers.org/snomedct/83453001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003977
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027543
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029445
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158442
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158449
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158450
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158451
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158452
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0745048
property_value: closeMatch NCIT:C34404
property_value: closeMatch NCIT:C35226
property_value: closeMatch NCIT:C35517
property_value: exactMatch DOID:0080008
property_value: exactMatch DOID:10159
property_value: exactMatch http://identifiers.org/mesh/D010020
property_value: exactMatch http://identifiers.org/snomedct/240196003
property_value: exactMatch NCIT:C34880
property_value: exactMatch NCIT:C35476
property_value: exactMatch Orphanet:399158

[Term]
id: MONDO:0005381
name: bone disease
def: "Diseases of bones." [MESH:D001847]
synonym: "bone element disease" EXACT [MONDO:patterns/location]
synonym: "bone element disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bone element" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone element" EXACT []
synonym: "disorder of bone element" EXACT [MONDO:patterns/location_top]
synonym: "disorder of bone element" RELATED [MONDO:patterns/location_top]
synonym: "skeletal disease" RELATED [DOID:0080001]
xref: DOID:0080001 {source="MONDO:equivalentTo", source="EFO:0004260"}
xref: EFO:0004260 {source="MONDO:equivalentTo"}
xref: ICD10:M89.9 {source="DOID:0080001"}
xref: ICD9:731.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001847 {source="DOID:0080001", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:76069003 {source="DOID:0080001", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.59"}
xref: UMLS:C0005940 {source="DOID:0080001", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 {source="DOID:0080001", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease
is_a: MONDO:0005172 {source="EFO:0004260", source="MONDO:Redundant", source="linkedlifedata"} ! skeletal system disease
property_value: closeMatch http://identifiers.org/snomedct/156814002
property_value: closeMatch http://identifiers.org/snomedct/203524000
property_value: closeMatch http://identifiers.org/snomedct/268126004
property_value: closeMatch http://identifiers.org/snomedct/274145000
property_value: closeMatch http://identifiers.org/snomedct/308147009
property_value: exactMatch DOID:0080001
property_value: exactMatch http://identifiers.org/mesh/D001847
property_value: exactMatch http://identifiers.org/snomedct/76069003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005940

[Term]
id: MONDO:0005382
name: bone Paget disease
def: "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." [NCIT:C3292]
synonym: "bone Paget disease" EXACT [NCIT:C3292]
synonym: "bone Paget's disease" EXACT [NCIT:C3292]
synonym: "familial Paget's disease of bone" RELATED [DOID:5408, MESH:C538098]
synonym: "osseous Paget's disease" EXACT [DOID:5408, NCIT:C3292]
synonym: "osteitis deformans" EXACT [DOID:5408, NCIT:C3292]
synonym: "Paget disease of bone" EXACT [DOID:5408, NCIT:C3292]
synonym: "Paget's bone disease" EXACT [DOID:5408, MTH:547]
synonym: "Paget's disease" EXACT [NCIT:C3292]
synonym: "Paget's disease of bone" EXACT [NCIT:C3292]
synonym: "Paget's disease of the bone" EXACT [NCIT:C3292]
synonym: "Pagets disease (bone)" EXACT [NCIT:C3292]
xref: DOID:5408 {source="MONDO:equivalentTo"}
xref: EFO:0004261 {source="MONDO:equivalentTo", source="DOID:5408"}
xref: ICD10:M88 {source="DOID:5408"}
xref: NCIT:C3292 {source="MONDO:equivalentTo", source="DOID:5408"}
xref: OMIMPS:167250 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:2089002 {source="MONDO:equivalentTo", source="DOID:5408", source="EFO:0004261", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0029401 {source="NCIT:C3292", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:5408"}
is_a: MONDO:0002185 {source="DOID:5408"} ! hyperostosis
property_value: closeMatch http://identifiers.org/mesh/D010001
property_value: closeMatch http://identifiers.org/snomedct/156811005
property_value: closeMatch http://identifiers.org/snomedct/156812003
property_value: closeMatch http://identifiers.org/snomedct/203353000
property_value: closeMatch http://identifiers.org/snomedct/203354006
property_value: closeMatch Orphanet:280110
property_value: exactMatch DOID:5408
property_value: exactMatch http://identifiers.org/snomedct/2089002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029401
property_value: exactMatch NCIT:C3292

[Term]
id: MONDO:0005383
name: panic disorder
def: "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." [NCIT:P378]
synonym: "panic anxiety syndrome" EXACT [CSP2005:4000-0280, DOID:594]
xref: DOID:594 {source="MONDO:equivalentTo", source="EFO:0004262"}
xref: EFO:0004262 {source="MONDO:equivalentTo", source="DOID:594"}
xref: ICD9:300.01 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016584 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"}
xref: NCIT:C34890 {source="MONDO:equivalentTo", source="DOID:594", source="MONDO:kboom-pr-0.94/0.78/1.37", source="EFO:0004262"}
xref: SCTID:371631005 {source="MONDO:kboom-pr-0.93/0.74/1.39", source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"}
xref: UMLS:CN240645 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005618 {source="DOID:594", source="EFO:0004262", source="MESH:D016584", source="NCIT:C34890", source="linkedlifedata"} ! anxiety disorder
property_value: closeMatch http://identifiers.org/snomedct/191705007
property_value: closeMatch http://identifiers.org/snomedct/192400001
property_value: closeMatch http://identifiers.org/snomedct/268627007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030319
property_value: exactMatch DOID:594
property_value: exactMatch http://identifiers.org/mesh/D016584
property_value: exactMatch http://identifiers.org/snomedct/371631005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240645
property_value: exactMatch NCIT:C34890

[Term]
id: MONDO:0005384
name: partial epilepsy
def: "A seizure caused by a localized disorder." [NCIT:P378]
synonym: "focal epilepsy" RELATED [DOID:2234]
synonym: "localisation-related epilepsy" EXACT [DOID:2234]
synonym: "partial epilepsy" EXACT [DOID:2234]
xref: DOID:2234 {source="MONDO:equivalentTo", source="EFO:0004263"}
xref: EFO:0004263 {source="MONDO:equivalentTo"}
xref: ICD9:345.50 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004828 {source="DOID:2234", source="MONDO:equivalentTo", source="EFO:0004263"}
xref: NCIT:C122812 {source="DOID:2234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:230381009 {source="DOID:2234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C0014547 {source="NCIT:C122812", source="DOID:2234", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="DOID:2234", source="EFO:0004263", source="MESH:D004828", source="NCIT:C122812", source="linkedlifedata"} ! epilepsy
property_value: closeMatch http://identifiers.org/snomedct/155041001
property_value: closeMatch http://identifiers.org/snomedct/155044009
property_value: closeMatch http://identifiers.org/snomedct/193007004
property_value: closeMatch http://identifiers.org/snomedct/29753000
property_value: closeMatch http://identifiers.org/snomedct/67139004
property_value: exactMatch DOID:2234
property_value: exactMatch http://identifiers.org/mesh/D004828
property_value: exactMatch http://identifiers.org/snomedct/230381009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014547
property_value: exactMatch NCIT:C122812

[Term]
id: MONDO:0005385
name: vascular disease
def: "A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma." [NCIT:C35117]
synonym: "disease of vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vasculature" EXACT []
synonym: "disorder of vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vasculature" RELATED [MONDO:patterns/location_top]
synonym: "vascular disorder" EXACT [NCIT:C35117]
synonym: "vascular tissue disease" EXACT [DOID:178]
synonym: "vasculature disease" EXACT [MONDO:patterns/location]
synonym: "vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:178 {source="MONDO:equivalentTo", source="EFO:0004264"}
xref: EFO:0004264 {source="MONDO:equivalentTo"}
xref: ICD10:I72.9 {source="DOID:178"}
xref: ICD9:442.9 {source="DOID:178"}
xref: MESH:D014652 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:178", source="EFO:0004264"}
xref: NCIT:C35117 {source="MONDO:equivalentTo", source="DOID:178"}
xref: SCTID:27550009 {source="MONDO:equivalentTo", source="DOID:178", source="MONDO:kboom-pr-1.00/0.79/8.50"}
xref: UMLS:C0042373 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35117", source="DOID:178"}
is_a: MONDO:0004995 {source="DOID:178", source="EFO:0004264", source="MESH:D014652", source="MONDO:Redundant", source="NCIT:C35117", source="linkedlifedata"} ! cardiovascular disease
property_value: closeMatch http://identifiers.org/mesh/D000783
property_value: closeMatch http://identifiers.org/mesh/D020758
property_value: closeMatch http://identifiers.org/snomedct/134342004
property_value: closeMatch http://identifiers.org/snomedct/155425005
property_value: closeMatch http://identifiers.org/snomedct/155428007
property_value: closeMatch http://identifiers.org/snomedct/195292009
property_value: closeMatch http://identifiers.org/snomedct/362727005
property_value: closeMatch http://identifiers.org/snomedct/371029002
property_value: closeMatch http://identifiers.org/snomedct/432119003
property_value: closeMatch http://identifiers.org/snomedct/85659009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002940
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752127
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752130
property_value: exactMatch DOID:178
property_value: exactMatch http://identifiers.org/mesh/D014652
property_value: exactMatch http://identifiers.org/snomedct/27550009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042373
property_value: exactMatch NCIT:C26693
property_value: exactMatch NCIT:C35117

[Term]
id: MONDO:0005386
name: peripheral arterial disease
def: "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." [NCIT:C84496]
synonym: "pad" EXACT [NCIT:C84496]
synonym: "peripheral arterial disorder" EXACT [NCIT:C84496]
synonym: "peripheral artery disease" RELATED [DOID:0050830]
xref: DOID:0050830 {source="EFO:0004265", source="MONDO:equivalentTo"}
xref: EFO:0004265 {source="MONDO:equivalentTo"}
xref: ICD9:443.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058729 {source="EFO:0004265", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84496 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:399957001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
is_a: MONDO:0000473 {source="DOID:0050830", source="linkedlifedata/inferred"} ! arterial disorder
is_a: MONDO:0005294 {source="EFO:0004265", source="MESH:D058729", source="NCIT:C84496"} ! peripheral vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704436
property_value: exactMatch DOID:0050830
property_value: exactMatch http://identifiers.org/mesh/D058729
property_value: exactMatch http://identifiers.org/snomedct/399957001
property_value: exactMatch NCIT:C84496

[Term]
id: MONDO:0005387
name: primary ovarian failure
def: "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." [NCIT:C113352]
synonym: "female hypergonadotropic hypogonadism" RELATED []
synonym: "hypergonadotrophic ovarian failure" RELATED []
synonym: "hypergonadotropic hypogonadism" EXACT [DOID:5426]
synonym: "hypergonadotropic hypogonadism (female)" EXACT [NCIT:C113352]
synonym: "premature menopause" RELATED [DOID:5426]
synonym: "premature ovarian failure" RELATED [MESH:D016649]
synonym: "premature ovarian insufficiency" RELATED [DOID:5426]
synonym: "primary female hypogonadism" RELATED []
synonym: "primary ovarian failure" EXACT [NCIT:C113352]
synonym: "primary ovarian insufficiency" EXACT [DOID:5426, NCIT:C113352]
xref: DOID:5426 {source="EFO:0004266", source="MONDO:equivalentTo"}
xref: EFO:0004266 {source="MONDO:equivalentTo"}
xref: ICD10:E28.3 {source="MONDO:equivalentTo", source="DOID:5426"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:256.39 {source="linkedlifedata"}
xref: MESH:D016649 {source="EFO:0004266", source="MONDO:equivalentTo", source="DOID:5426"}
xref: NCIT:C113352 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:5426"}
xref: OMIMPS:311360 {source="MONDO:equivalentTo"}
xref: SCTID:370999003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.24"}
xref: SCTID:65846009 {source="MONDO:equivalentTo", source="DOID:5426"}
xref: UMLS:C0085215 {source="MONDO:equivalentTo", source="DOID:5426"}
is_a: MONDO:0005558 {source="DOID:5426", source="EFO:0004266/inferred", source="MESH:D016649", source="NCIT:C113352/inferred", source="linkedlifedata/inferred"} ! ovarian disease
property_value: closeMatch http://identifiers.org/snomedct/190545008
property_value: closeMatch http://identifiers.org/snomedct/39381003
property_value: closeMatch http://identifiers.org/snomedct/80956002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271606
property_value: closeMatch Orphanet:619
property_value: exactMatch DOID:5426
property_value: exactMatch http://identifiers.org/mesh/D016649
property_value: exactMatch http://identifiers.org/snomedct/370999003
property_value: exactMatch http://identifiers.org/snomedct/65846009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085215
property_value: exactMatch NCIT:C113352

[Term]
id: MONDO:0005388
name: primary biliary cholangitis
def: "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." [Orphanet:186]
subset: ordo_disease {source="Orphanet:186"}
synonym: "biliary cirrhosis, primary" RELATED [OMIMPS:109720]
synonym: "biliary liver cirrhosis" EXACT [DOID:12236]
synonym: "cholestatic cirrhosis" EXACT [DOID:12236]
synonym: "chronic non-suppurative destructive cholangitis" EXACT [NCIT:C27167]
synonym: "chronic nonsuppurative destructive cholangitis" EXACT [DOID:12236]
synonym: "familial primary biliary cirrhosis" RELATED [GARD:0007459]
synonym: "Hanot syndrome" EXACT [Orphanet:186]
synonym: "PBC" EXACT [Orphanet:186]
synonym: "primary Bilary cirrhosis (PBC)" EXACT [NCIT:C27167]
synonym: "primary biliary cirrhosis" EXACT [Orphanet:186]
xref: COHD:4135822 {source="MONDO:equivalentTo"}
xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"}
xref: EFO:0004267 {source="MONDO:equivalentTo", source="DOID:12236"}
xref: GARD:0007459 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K74.3 {source="ORDO:186/e", source="Orphanet:186", source="DOID:12236"}
xref: ICD10:K74.5 {source="DOID:12236"}
xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"}
xref: MedDRA:10004661 {source="ORDO:186/e", source="Orphanet:186"}
xref: MedDRA:10019137 {source="ORDO:186/e", source="Orphanet:186"}
xref: MESH:D008105 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12236"}
xref: NCIT:C27167 {source="EFO:0004267", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29", source="DOID:12236"}
xref: OMIMPS:109720 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="MONDO:equivalentTo", source="DOID:12236"}
xref: SCTID:31712002 {source="EFO:0004267", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/2.11", source="DOID:12236"}
xref: UMLS:C0008312 {source="NCIT:C27167", source="MONDO:equivalentTo", source="ORDO:186/e", source="Orphanet:186", source="DOID:12236"}
is_a: MONDO:0004868 {source="Orphanet:186"} ! biliary tract disease
is_a: MONDO:0005155 {source="DOID:12236", source="EFO:0004267", source="MESH:D008105", source="NCIT:C27167/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cirrhosis of liver
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155815006
property_value: closeMatch http://identifiers.org/snomedct/1761006
property_value: closeMatch http://identifiers.org/snomedct/197311004
property_value: closeMatch http://identifiers.org/snomedct/266540000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023892
property_value: closeMatch NCIT:C51225
property_value: exactMatch DOID:12236
property_value: exactMatch http://identifiers.org/meddra/10004661
property_value: exactMatch http://identifiers.org/meddra/10019137
property_value: exactMatch http://identifiers.org/mesh/D008105
property_value: exactMatch http://identifiers.org/snomedct/31712002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859942
property_value: exactMatch NCIT:C27167
property_value: exactMatch Orphanet:186

[Term]
id: MONDO:0005389
name: obsolete sclerosing cholangitis
is_obsolete: true
replaced_by: MONDO:0018646

[Term]
id: MONDO:0005390
name: obsolete cardiac arrhythmia
is_obsolete: true
replaced_by: MONDO:0007263

[Term]
id: MONDO:0005391
name: restless legs syndrome
def: "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." [NCIT:C84501]
synonym: "restless leg syndrome" EXACT [NCIT:C84501]
synonym: "RLS" BROAD [NCIT:C84501]
synonym: "WED" BROAD [DOID:0050425]
synonym: "Willis-Ekbom disease" EXACT [DOID:0050425]
synonym: "Wittmaack-Ekbom syndrome" EXACT [DOID:0050425]
xref: DOID:0050425 {source="MONDO:equivalentTo", source="EFO:0004270"}
xref: EFO:0004270 {source="DOID:0050425", source="MONDO:equivalentTo"}
xref: GARD:0011926 {source="MONDO:equivalentTo"}
xref: ICD10:G25.81 {source="DOID:0050425", source="MONDO:equivalentTo"}
xref: ICD9:333.94 {source="DOID:0050425", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012148 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270", source="MONDO:ontobio"}
xref: NCIT:C84501 {source="DOID:0050425", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: OMIMPS:102300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:32914008 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0035258 {source="NCIT:C84501", source="DOID:0050425", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="https://github.com/monarch-initiative/mondo/issues/468"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84501"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:0050425"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/393579008
property_value: exactMatch DOID:0050425
property_value: exactMatch http://identifiers.org/mesh/D012148
property_value: exactMatch http://identifiers.org/snomedct/32914008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035258
property_value: exactMatch NCIT:C84501

[Term]
id: MONDO:0005392
name: scoliosis
def: "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." [NCIT:P378]
xref: DOID:0060249 {source="MONDO:equivalentTo", source="EFO:0004273"}
xref: EFO:0004273 {source="MONDO:equivalentTo"}
xref: HP:0002650 {source="MONDO:otherHierarchy", source="DOID:0060249"}
xref: ICD10:M41 {source="MONDO:equivalentTo", source="DOID:0060249"}
xref: ICD10:M41.9 {source="DOID:0060249"}
xref: ICD9:737.43 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012600 {source="MONDO:equivalentTo", source="DOID:0060249", source="MONDO:ontobio", source="EFO:0004273"}
xref: NCIT:C78603 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:0060249", source="EFO:0004273"}
xref: SCTID:298382003 {source="MONDO:equivalentTo", source="DOID:0060249", source="MONDO:kboom-pr-0.99/0.73/5.50"}
is_a: MONDO:0000836 {source="DOID:0060249"} ! disease of bone structure
property_value: closeMatch http://identifiers.org/snomedct/20944008
property_value: closeMatch http://identifiers.org/snomedct/36773001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036439
property_value: exactMatch DOID:0060249
property_value: exactMatch http://identifiers.org/mesh/D012600
property_value: exactMatch http://identifiers.org/snomedct/298382003
property_value: exactMatch NCIT:C78603

[Term]
id: MONDO:0005393
name: gout
def: "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." [NCIT:C34650]
synonym: "articular gout" EXACT [DOID:13189]
synonym: "gout" EXACT [NCIT:C34650]
synonym: "gouty arthritis" EXACT [DOID:13189]
synonym: "gouty arthropathy" EXACT [DOID:13189, ICD9CM_2006:274.0]
xref: COHD:440674 {source="MONDO:equivalentTo"}
xref: DOID:13189 {source="MONDO:equivalentTo", source="EFO:0004274"}
xref: EFO:0004274 {source="MONDO:equivalentTo", source="DOID:13189"}
xref: ICD10:M10 {source="MONDO:equivalentTo", source="DOID:13189"}
xref: ICD10:M10.9 {source="DOID:13189"}
xref: ICD9:274 {source="DOID:13189", source="EFO:0004274"}
xref: ICD9:274.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13189"}
xref: ICD9:274.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:13189"}
xref: ICD9:274.9 {source="DOID:13189"}
xref: MESH:D006073 {source="MONDO:equivalentTo", source="DOID:13189", source="EFO:0004274"}
xref: NCIT:C34650 {source="MONDO:equivalentTo", source="DOID:13189", source="exact-label-match", source="EFO:0004274"}
xref: SCTID:190828008 {source="MONDO:kboom-pr-0.94/0.82/0.89", source="MONDO:equivalentTo", source="DOID:13189"}
xref: UMLS:C0003868 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:13189"}
xref: UMLS:C0018099 {source="MONDO:equivalentTo", source="NCIT:C34650", source="DOID:13189"}
is_a: MONDO:0005066 {source="MESH:D006073/inferred", source="NCIT:C34650"} ! metabolic disease
relationship: disease_has_feature MONDO:0003366 {source="Wikidata"} ! hydrarthrosis
relationship: excluded_subClassOf MONDO:0005578 {source="DOID:13189", source="EFO:0004274", source="MESH:D006073", source="NCIT:C34650"} ! arthritis
property_value: closeMatch http://identifiers.org/mesh/D015210
property_value: closeMatch http://identifiers.org/snomedct/147966005
property_value: closeMatch http://identifiers.org/snomedct/154745008
property_value: closeMatch http://identifiers.org/snomedct/154746009
property_value: closeMatch http://identifiers.org/snomedct/170733007
property_value: closeMatch http://identifiers.org/snomedct/190827003
property_value: closeMatch http://identifiers.org/snomedct/190844004
property_value: closeMatch http://identifiers.org/snomedct/201661008
property_value: closeMatch http://identifiers.org/snomedct/201662001
property_value: closeMatch http://identifiers.org/snomedct/201672003
property_value: closeMatch http://identifiers.org/snomedct/48440001
property_value: closeMatch http://identifiers.org/snomedct/90560007
property_value: exactMatch DOID:13189
property_value: exactMatch http://identifiers.org/mesh/D006073
property_value: exactMatch http://identifiers.org/snomedct/190828008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018099
property_value: exactMatch NCIT:C34650

[Term]
id: MONDO:0005394
name: brain infarction
def: "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." [MESH:D020520]
xref: DOID:3454 {source="EFO:0004277", source="MONDO:equivalentTo"}
xref: EFO:0004277 {source="MONDO:equivalentTo"}
xref: MESH:D020520 {source="EFO:0004277", source="DOID:3454", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0751955 {source="DOID:3454", source="MONDO:equivalentTo"}
is_a: MONDO:0011057 {source="DOID:3454", source="MESH:D020520/inferred"} ! cerebrovascular disorder
property_value: exactMatch DOID:3454
property_value: exactMatch http://identifiers.org/mesh/D020520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751955
property_value: narrowMatch http://identifiers.org/snomedct/230693009
property_value: narrowMatch http://identifiers.org/snomedct/230698000

[Term]
id: MONDO:0005395
name: movement disorder
def: "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." [NCIT:C116757]
synonym: "movement disease" EXACT [MONDO:0003151]
synonym: "movement disorders" EXACT [NCIT:C116757]
xref: COHD:372604 {source="MONDO:equivalentTo"}
xref: DOID:480 {source="MONDO:equivalentTo"}
xref: EFO:0004280 {source="MONDO:equivalentTo"}
xref: ICD9:333.90 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009069 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"}
xref: NCIT:C116757 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280", source="exact-label-match"}
xref: SCTID:60342002 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005071 {source="DOID:480/inferred", source="EFO:0004280", source="MESH:D009069/inferred", source="NCIT:C116757/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026650
property_value: exactMatch DOID:480
property_value: exactMatch http://identifiers.org/mesh/D009069
property_value: exactMatch http://identifiers.org/snomedct/60342002
property_value: exactMatch NCIT:C116757

[Term]
id: MONDO:0005396
name: thoracic aortic aneurysm
def: "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378]
xref: DOID:14004 {source="MONDO:equivalentTo", source="EFO:0004282"}
xref: EFO:0004282 {source="MONDO:equivalentTo", source="DOID:14004"}
xref: MESH:D017545 {source="MONDO:equivalentTo", source="EFO:0004282", source="DOID:14004"}
xref: SCTID:433068007 {source="MONDO:equivalentTo", source="DOID:14004"}
xref: UMLS:C0162872 {source="MONDO:equivalentTo", source="DOID:14004"}
is_a: MONDO:0005160 {source="DOID:14004", source="EFO:0004282"} ! aortic aneurysm (disease)
property_value: closeMatch http://identifiers.org/snomedct/155421001
property_value: exactMatch DOID:14004
property_value: exactMatch http://identifiers.org/mesh/D017545
property_value: exactMatch http://identifiers.org/snomedct/433068007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162872
property_value: exactMatch NCIT:C27001

[Term]
id: MONDO:0005397
name: goiter (disease)
def: "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." [NCIT:P378]
synonym: "goiter" EXACT [MONDO:ambiguous]
synonym: "goitre" EXACT [DOID:12176]
synonym: "Thyromegaly" EXACT [NCIT:C26785]
xref: COHD:135772 {source="MONDO:equivalentTo"}
xref: DOID:12176 {source="MONDO:equivalentTo", source="EFO:0004283"}
xref: EFO:0004283 {source="MONDO:equivalentTo"}
xref: HP:0000853 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E04.9 {source="DOID:12176"}
xref: ICD9:240.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:12176"}
xref: MESH:D006042 {source="MONDO:equivalentTo", source="DOID:12176", source="MONDO:ontobio", source="EFO:0004283"}
xref: NCIT:C26785 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12176", source="EFO:0004283"}
xref: SCTID:3716002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12176", source="EFO:0004283"}
is_a: MONDO:0003240 {source="DOID:12176", source="MESH:D006042", source="NCIT:C26785/inferred", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch http://identifiers.org/snomedct/190232008
property_value: closeMatch http://identifiers.org/snomedct/190235005
property_value: closeMatch http://identifiers.org/snomedct/237568003
property_value: closeMatch http://identifiers.org/snomedct/267370001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018021
property_value: exactMatch DOID:12176
property_value: exactMatch http://identifiers.org/mesh/D006042
property_value: exactMatch http://identifiers.org/snomedct/3716002
property_value: exactMatch NCIT:C26785

[Term]
id: MONDO:0005398
name: upper aerodigestive tract neoplasm
def: "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" [MESH:D006258]
xref: EFO:0004284 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:439361000 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:0004284", source="MONDOLEX:0005398", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/mesh/D006258
property_value: exactMatch http://identifiers.org/snomedct/439361000

[Term]
id: MONDO:0005399
name: venous thromboembolism
def: "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." [NCIT:C99537]
synonym: "venous thromboembolism" EXACT [NCIT:C99537]
xref: EFO:0004286 {source="MONDO:equivalentTo"}
xref: MESH:D054556 {source="MONDO:equivalentTo", source="EFO:0004286"}
xref: NCIT:C99537 {source="MONDO:equivalentTo", source="EFO:0004286"}
xref: UMLS:C1861172 {source="MONDO:equivalentTo", source="NCIT:C99537"}
is_a: MONDO:0005385 {source="EFO:0004286", source="MESH:D054556/inferred", source="NCIT:C99537/inferred"} ! vascular disease
property_value: exactMatch http://identifiers.org/mesh/D054556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861172
property_value: exactMatch NCIT:C99537

[Term]
id: MONDO:0005400
name: obsolete ventricular fibrillation
is_obsolete: true
replaced_by: MONDO:0000190

[Term]
id: MONDO:0005401
name: colonic neoplasm
def: "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2953]
synonym: "colon neoplasm" EXACT [NCIT:C2953]
synonym: "colon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "colon tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "colonic neoplasm" EXACT [NCIT:C2953]
synonym: "colonic tumor" EXACT [NCIT:C2953]
synonym: "neoplasm of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "neoplasm of the colon" EXACT [NCIT:C2953]
synonym: "tumor of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "tumor of the colon" EXACT [NCIT:C2953]
xref: EFO:0004288 {source="MONDO:equivalentTo"}
xref: MESH:D003110 {source="EFO:0004288", source="DOID:219", source="MONDO:equivalentTo"}
xref: NCIT:C2953 {source="EFO:0004288", source="MONDO:equivalentTo"}
xref: UMLS:C0009375 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2953"}
is_a: MONDO:0003409 {source="MESH:D003110/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! colonic disease
is_a: MONDO:0005335 {source="MESH:D003110", source="NCIT:C2953"} ! colorectal neoplasm
property_value: exactMatch http://identifiers.org/mesh/D003110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009375
property_value: exactMatch NCIT:C2953

[Term]
id: MONDO:0005402
name: lymphoid leukemia (disease)
def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539]
synonym: "leukemia, LYMPHOCYTIC, malignant" EXACT [NCIT:C7539]
synonym: "lymphocytic leukemia" EXACT [NCIT:C7539]
synonym: "lymphogenous leukemia" EXACT [NCIT:C7539]
synonym: "lymphoid leukemia" EXACT [MONDO:ambiguous, NCIT:C7539]
synonym: "subacute lymphoid leukemia" EXACT [DOID:10747]
xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentTo"}
xref: EFO:0004289 {source="MONDO:equivalentTo"}
xref: HP:0005526 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:204 {source="EFO:0004289"}
xref: ICD9:204.2 {source="DOID:10747"}
xref: ICD9:204.20 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:981-983 {source="NCIT:C7539"}
xref: ICDO:9820/3 {source="NCIT:C7539"}
xref: MESH:D007945 {source="EFO:0004289", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7539 {source="EFO:0004289", source="MONDO:equivalentTo", source="DOID:1037"}
xref: SCTID:188726003 {source="MONDO:equivalentTo", source="DOID:10747", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0023448 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7539"}
xref: UMLS:C0152271 {source="MONDO:equivalentTo", source="DOID:10747"}
is_a: MONDO:0005059 {source="DOID:10747/inferred", source="EFO:0004289", source="MESH:D007945", source="MONDO:Redundant", source="NCIT:C7539", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukemia (disease)
is_a: MONDO:0005157 {source="EFO:0004289/inferred", source="MONDO:Redundant", source="NCIT:C7539"} ! lymphoid neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154590001
property_value: closeMatch http://identifiers.org/snomedct/188725004
property_value: closeMatch http://identifiers.org/snomedct/190035004
property_value: closeMatch http://identifiers.org/snomedct/32280000
property_value: closeMatch http://identifiers.org/snomedct/33560006
property_value: closeMatch http://identifiers.org/snomedct/95274002
property_value: exactMatch DOID:10747
property_value: exactMatch http://identifiers.org/mesh/D007945
property_value: exactMatch http://identifiers.org/snomedct/188726003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152271
property_value: exactMatch NCIT:C7539

[Term]
id: MONDO:0005403
name: obsolete neonatal systemic lupus erthematosus
is_obsolete: true
replaced_by: MONDO:0018360

[Term]
id: MONDO:0005404
name: myalgic encephalomeyelitis/chronic fatigue syndrome
def: "a medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome]
synonym: "CFS" EXACT ABBREVIATION [https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome#Naming]
synonym: "chronic fatigue syndrome" RELATED [DOID:8544]
synonym: "myalgic encephalitis" EXACT [DOID:8544, https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome#Naming]
synonym: "myalgic encephalomyelitis" EXACT [DOID:8544, https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome#Naming]
synonym: "Postviral fatigue syndrome" EXACT [DOID:8544]
synonym: "systemic exertion intolerance disease" EXACT [https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome#Naming]
xref: DOID:8544 {source="EFO:0004540", source="MONDO:equivalentTo"}
xref: EFO:0004540 {source="MONDO:equivalentTo"}
xref: ICD10:G93.3 {source="DOID:8544"}
xref: ICD10:R53.82 {source="DOID:8544"}
xref: ICD9:780.71 {source="DOID:8544", source="EFO:0004540"}
xref: ICD9:780.79 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015673 {source="DOID:8544", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3037 {source="MONDO:kboom-pr-1.00/0.91/25.76", source="DOID:8544", source="EFO:0004540", source="MONDO:equivalentTo"}
xref: SCTID:51771007 {source="DOID:8544", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.21"}
xref: UMLS:C0015674 {source="DOID:8544", source="MONDO:equivalentTo", source="NCIT:C3037"}
is_a: MONDO:0002254 {source="DOID:8544", source="MONDO:Redundant", source="NCIT:C3037/inferred"} ! syndromic disease
is_a: MONDO:0005218 {source="EFO:0004540", source="MESH:D015673", source="MONDO:Redundant", source="OWLReasoner:2017"} ! muscular disease
is_a: MONDO:0021094 {source="NCIT:C3037"} ! immunodeficiency disease
property_value: closeMatch http://identifiers.org/snomedct/154989001
property_value: closeMatch http://identifiers.org/snomedct/154991009
property_value: closeMatch http://identifiers.org/snomedct/155062000
property_value: closeMatch http://identifiers.org/snomedct/192735003
property_value: closeMatch http://identifiers.org/snomedct/193054000
property_value: closeMatch http://identifiers.org/snomedct/247372003
property_value: closeMatch http://identifiers.org/snomedct/267683005
property_value: closeMatch http://identifiers.org/snomedct/267684004
property_value: closeMatch http://identifiers.org/snomedct/271798008
property_value: closeMatch http://identifiers.org/snomedct/52702003
property_value: exactMatch DOID:8544
property_value: exactMatch http://identifiers.org/mesh/D015673
property_value: exactMatch http://identifiers.org/snomedct/51771007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015674
property_value: exactMatch NCIT:C3037

[Term]
id: MONDO:0005405
name: childhood onset asthma
def: "Asthma that starts in childhood." [EFO:0004591]
synonym: "asthma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood asthma" EXACT [MONDO:design_pattern]
synonym: "pediatric asthma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric asthma" RELATED [MONDO:patterns/childhood]
xref: EFO:0004591 {source="MONDO:equivalentTo"}
xref: SCTID:233678006 {source="MONDO:equivalentTo"}
xref: UMLS:C0264408 {source="MONDO:equivalentTo"}
is_a: MONDO:0004979 {source="EFO:0004591", source="MONDO:Redundant"} ! asthma
property_value: exactMatch http://identifiers.org/snomedct/233678006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264408

[Term]
id: MONDO:0005406
name: gestational diabetes
def: "Carbohydrate intolerance first diagnosed during pregnancy." [NCIT:P378]
synonym: "diabetes in pregnancy" EXACT [NCIT:C34942]
synonym: "GDM" EXACT [CSP2005:0862-6650, DOID:11714]
synonym: "gestational diabetes mellitus" EXACT [DOID:11714]
synonym: "maternal gestational diabetes mellitus" EXACT [DOID:11714]
xref: DOID:11714 {source="MONDO:equivalentTo", source="EFO:0004593"}
xref: EFO:0004593 {source="DOID:11714", source="MONDO:equivalentTo"}
xref: ICD10:O24.4 {source="DOID:11714"}
xref: MESH:D016640 {source="DOID:11714", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34942 {source="DOID:11714", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0004593"}
xref: SCTID:11687002 {source="DOID:11714", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0004593"}
xref: UMLS:C0085207 {source="MEDGEN:kboom-pr98-c99", source="DOID:11714", source="MONDO:equivalentTo", source="NCIT:C34942"}
is_a: MONDO:0005015 {source="DOID:11714", source="EFO:0004593", source="MESH:D016640", source="MONDO:Redundant", source="NCIT:C34942", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetes mellitus (disease)
is_a: MONDO:0024575 {source="MESH:D016640", source="MONDO:Redundant", source="MONDO:cjm"} ! pregnancy disorder
intersection_of: MONDO:0005015 ! diabetes mellitus (disease)
intersection_of: MONDO:0024575 ! pregnancy disorder
property_value: closeMatch http://identifiers.org/snomedct/199232003
property_value: closeMatch http://identifiers.org/snomedct/237629002
property_value: closeMatch http://identifiers.org/snomedct/359964007
property_value: closeMatch http://identifiers.org/snomedct/393568003
property_value: exactMatch DOID:11714
property_value: exactMatch http://identifiers.org/mesh/D016640
property_value: exactMatch http://identifiers.org/snomedct/11687002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085207
property_value: exactMatch NCIT:C34942

[Term]
id: MONDO:0005407
name: childhood eosinophilic esophagitis
def: "An eosinophilic esophagitis that starts in childhood." [EFO:0004594]
synonym: "eosinophilic esophagitis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric eosinophilic esophagitis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric eosinophilic esophagitis" RELATED [MONDO:patterns/childhood]
xref: EFO:0004594 {source="MONDO:equivalentTo"}
is_a: MONDO:0005361 {source="EFO:0004594", source="MONDO:Redundant", source="MONDOLEX:0005407"} ! eosinophilic esophagitis

[Term]
id: MONDO:0005408
name: diabetes mellitus type 2 associated cataract
def: "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" [EFO:0004596]
xref: EFO:0004596 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="EFO:0004596", source="MONDO:Redundant"} ! cataract (disease)
intersection_of: MONDO:0005129 ! cataract (disease)
intersection_of: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus
relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus

[Term]
id: MONDO:0005409
name: obsolete variant Creutzfeld Jacob disease
is_obsolete: true
replaced_by: MONDO:0007012

[Term]
id: MONDO:0005410
name: acute graft vs. host disease
def: "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." [EFO:0004599]
comment: Editor note: consider merging with parent
xref: EFO:0004599 {source="MONDO:equivalentTo"}
is_a: MONDO:0013730 ! graft versus host disease

[Term]
id: MONDO:0005411
name: gallbladder cancer
def: "A malignant neoplasm involving the gall bladder" [MONDO:DesignPattern]
synonym: "cancer of gall bladder" EXACT [MONDO:patterns/cancer]
synonym: "gall bladder cancer" EXACT [MONDO:patterns/location]
synonym: "gallbladder Ca" EXACT [DOID:3121]
synonym: "gallbladder neoplasm" BROAD [DOID:3121, MTH:NOCODE]
synonym: "localized malignant gallbladder neoplasm" EXACT [DOID:3121, NCIT:C35676]
synonym: "malignant gall bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant gallbladder neoplasm" EXACT [NCIT:C7481]
synonym: "malignant gallbladder tumor" EXACT [NCIT:C7481]
synonym: "malignant neoplasm of gall bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gallbladder" EXACT [DOID:3121, NCIT:C7481]
synonym: "malignant neoplasm of the gallbladder" EXACT [NCIT:C7481]
synonym: "malignant tumor of gallbladder" EXACT [NCIT:C7481]
synonym: "malignant tumor of the gallbladder" EXACT [DOID:3121, NCIT:C7481]
synonym: "malignant tumour of gallbladder" EXACT [DOID:3121]
synonym: "tumor of the gallbladder" BROAD [DOID:3121, NCIT:C3048]
xref: COHD:4181327 {source="MONDO:equivalentTo"}
xref: DOID:3121 {source="MONDO:equivalentTo", source="EFO:0004606"}
xref: EFO:0004606 {source="MONDO:equivalentTo"}
xref: GARD:0009328 {source="MONDO:equivalentTo"}
xref: ICD10:C23 {source="DOID:3121"}
xref: ICD9:156.0 {source="DOID:3121", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:156.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7481 {source="DOID:3121", source="MONDO:kboom-pr-0.92/0.69/1.66", source="MONDO:equivalentTo"}
xref: ONCOTREE:GBC {source="MONDO:equivalentTo"}
xref: SCTID:363353009 {source="DOID:3121", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
xref: UMLS:C0153452 {source="MEDGEN:kboom-pr97-c98", source="DOID:3121", source="MONDO:equivalentTo", source="NCIT:C7481"}
is_a: MONDO:0002516 ! digestive system cancer
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C7481"} ! gallbladder neoplasm
relationship: excluded_subClassOf MONDO:0003060 {source="DOID:3121"} ! biliary tract cancer
property_value: closeMatch http://identifiers.org/mesh/D005706
property_value: closeMatch http://identifiers.org/snomedct/126854002
property_value: closeMatch http://identifiers.org/snomedct/154472004
property_value: closeMatch http://identifiers.org/snomedct/187782001
property_value: closeMatch http://identifiers.org/snomedct/254602009
property_value: closeMatch http://identifiers.org/snomedct/269550003
property_value: closeMatch http://identifiers.org/snomedct/93810008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278806
property_value: closeMatch NCIT:C35676
property_value: exactMatch DOID:3121
property_value: exactMatch http://identifiers.org/snomedct/363353009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153452
property_value: exactMatch NCIT:C7481

[Term]
id: MONDO:0005412
name: duodenal ulcer (disease)
def: "An ulcer in the duodenal wall." [NCIT:P378]
synonym: "curling Ulcer" EXACT [DOID:1724]
synonym: "curling's ulcers" EXACT [DOID:1724]
synonym: "duodenal ulcer" EXACT [MONDO:ambiguous]
synonym: "stress Ulcer" EXACT [DOID:1724, NCIT:C35263]
xref: DOID:1724 {source="MONDO:equivalentTo", source="EFO:0004607"}
xref: EFO:0004607 {source="MONDO:equivalentTo"}
xref: HP:0002588 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K26 {source="MONDO:equivalentTo", source="DOID:1724"}
xref: ICD9:532 {source="DOID:1724", source="EFO:0004607"}
xref: MESH:D004381 {source="MONDO:equivalentTo", source="DOID:1724", source="MONDO:ontobio", source="EFO:0004607"}
xref: NCIT:C26755 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"}
xref: SCTID:39755000 {source="MONDO:kboom-pr-0.86/0.64/0.59", source="MONDO:equivalentTo", source="DOID:1724"}
is_a: MONDO:0002866 {source="MESH:D004381/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! duodenal disease
is_a: MONDO:0004247 {source="DOID:1724", source="MESH:D004381", source="NCIT:C26755"} ! peptic ulcer disease
property_value: closeMatch http://identifiers.org/snomedct/155691003
property_value: closeMatch http://identifiers.org/snomedct/155700000
property_value: closeMatch http://identifiers.org/snomedct/196651004
property_value: closeMatch http://identifiers.org/snomedct/196669008
property_value: closeMatch http://identifiers.org/snomedct/196672001
property_value: closeMatch http://identifiers.org/snomedct/196679005
property_value: closeMatch http://identifiers.org/snomedct/196680008
property_value: closeMatch http://identifiers.org/snomedct/235703009
property_value: closeMatch http://identifiers.org/snomedct/367474008
property_value: closeMatch http://identifiers.org/snomedct/51868009
property_value: closeMatch http://identifiers.org/snomedct/553009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010474
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013295
property_value: exactMatch DOID:1724
property_value: exactMatch http://identifiers.org/mesh/D004381
property_value: exactMatch http://identifiers.org/snomedct/39755000
property_value: exactMatch NCIT:C26755

[Term]
id: MONDO:0005413
name: cystic fibrosis associated meconium ileus
def: "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis." [EFO:0004608]
synonym: "cystic fibrosis associated meconium ileum" EXACT [EFO:0004608]
xref: EFO:0004608 {source="MONDO:equivalentTo"}
is_a: MONDO:0054868 {source="https://github.com/EBISPOT/efo/issues/553"} ! meconium ileus
is_a: MONDO:0100086 {source="https://github.com/monarch-initiative/mondo/issues/685"} ! perinatal disease
relationship: excluded_subClassOf MONDO:0009061 {source="EFO:0004608"} ! cystic fibrosis

[Term]
id: MONDO:0005414
name: treatment-refractory schizophrenia
def: "Schizophrenia which does not respond to commonly used treatments." [EFO:0004609]
synonym: "refractory schizophrenia" EXACT []
synonym: "treatment-refractory schizophrenia" EXACT [PMID:22034144]
synonym: "TRS" BROAD [PMID:22034144]
xref: EFO:0004609 {source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="EFO:0004609"} ! schizophrenia (disease)

[Term]
id: MONDO:0005415
name: obsolete acute lung injury
is_obsolete: true
replaced_by: MONDO:0015796

[Term]
id: MONDO:0005416
name: osteoarthritis, knee
def: "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" [MESH:D020370]
xref: COHD:4079750 {source="MONDO:equivalentTo"}
xref: EFO:0004616 {source="MONDO:equivalentTo"}
xref: MESH:D020370 {source="MONDO:equivalentTo", source="EFO:0004616"}
is_a: MONDO:0005178 {source="EFO:0004616", source="MESH:D020370", source="MONDOLEX:0005416"} ! osteoarthritis
property_value: exactMatch http://identifiers.org/mesh/D020370

[Term]
id: MONDO:0005417
name: wet macular degeneration
def: "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135]
synonym: "exudative senile macular degeneration of retina" EXACT [DOID:10873, ICD9CM_2006:362.52]
synonym: "Kuhnt-Junius degeneration" RELATED [DOID:10873]
synonym: "neovascular age-related macular degeneration" EXACT [DOID:10873]
synonym: "Senile macular degeneration, wet" EXACT [DOID:10873, MTHICD9_2006:362.52]
synonym: "wet age related macular degeneration" EXACT [MEDDRA:10075568, PMID:16178119]
synonym: "wet AMD" EXACT [MEDDRA:10075568, PMID:16178119]
synonym: "wet ARMD" EXACT [MEDDRA:10075568, PMID:16178119]
synonym: "wet senile macular retinal degeneration" EXACT [DOID:10873]
xref: DOID:10873 {source="EFO:0004683", source="MONDO:equivalentTo"}
xref: EFO:0004683 {source="MONDO:equivalentTo"}
xref: ICD10:H35.32 {source="DOID:10873"}
xref: ICD9:362.52 {source="DOID:10873", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D057135 {source="EFO:0004683", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:414173003 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="DOID:10873", source="MONDO:equivalentTo"}
xref: UMLS:C0271084 {source="DOID:10873", source="MONDO:equivalentTo"}
xref: UMLS:C2237660 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="EFO:0004683", source="linkedlifedata"} ! age-related macular degeneration
property_value: closeMatch http://identifiers.org/snomedct/11290001
property_value: closeMatch http://identifiers.org/snomedct/16018000
property_value: exactMatch DOID:10873
property_value: exactMatch http://identifiers.org/mesh/D057135
property_value: exactMatch http://identifiers.org/snomedct/414173003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2237660

[Term]
id: MONDO:0005418
name: non-compaction cardiomyopathy
def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [EFO:0004686]
xref: EFO:0004686 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="EFO:0004686"} ! cardiomyopathy

[Term]
id: MONDO:0005419
name: metamphetamine dependence
def: "A drug dependence that is a psychological dependency on the regular use of metamphetamine." [EFO:0004701]
xref: EFO:0004701 {source="MONDO:equivalentTo"}
is_a: MONDO:0005303 {source="EFO:0004701"} ! drug dependence

[Term]
id: MONDO:0005420
name: hypothyroidism
def: "Abnormally low levels of thyroid hormone." [NCIT:P378]
synonym: "hypothyroid" RELATED []
synonym: "hypothyroidism" EXACT []
synonym: "thyroid deficiency" EXACT [DOID:1459]
synonym: "thyroid insufficiency" EXACT [DOID:1459]
synonym: "underactive thyroid" EXACT [NCIT:C26800]
xref: COHD:140673 {source="MONDO:equivalentTo"}
xref: DOID:1459 {source="MONDO:equivalentTo", source="EFO:0004705"}
xref: EFO:0004705 {source="MONDO:equivalentTo", source="DOID:1459"}
xref: ICD10:E03.9 {source="DOID:1459"}
xref: ICD9:244.9 {source="DOID:1459", source="linkedlifedata"}
xref: MESH:D007037 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459", source="MONDO:ontobio"}
xref: NCIT:C26800 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0004705", source="DOID:1459"}
xref: SCTID:40930008 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"}
is_a: MONDO:0003240 {source="DOID:1459", source="MESH:D007037", source="NCIT:C26800/inferred", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch http://identifiers.org/snomedct/154660000
property_value: closeMatch http://identifiers.org/snomedct/190274003
property_value: closeMatch http://identifiers.org/snomedct/190290003
property_value: closeMatch http://identifiers.org/snomedct/237572004
property_value: closeMatch http://identifiers.org/snomedct/267377003
property_value: closeMatch http://identifiers.org/snomedct/267465007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020676
property_value: exactMatch DOID:1459
property_value: exactMatch http://identifiers.org/mesh/D007037
property_value: exactMatch http://identifiers.org/snomedct/40930008
property_value: exactMatch NCIT:C26800

[Term]
id: MONDO:0005421
name: obsolete infantile hypertrophic pyloric stenosis
is_obsolete: true
replaced_by: MONDO:0001560

[Term]
id: MONDO:0005422
name: obsolete nodular sclerosis Hodgkin lymphoma
def: "A distinct, highly heritable Hodgkin lymphoma subtype." [EFO:0004708]
is_obsolete: true
replaced_by: MONDO:0004665

[Term]
id: MONDO:0005423
name: obsolete pelvic organ prolapse
is_obsolete: true
replaced_by: MONDO:0000082

[Term]
id: MONDO:0005424
name: elephantiasis
def: "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." [NCIT:P378]
synonym: "elephantiasis NOS" RELATED EXCLUDE [DOID:4976, MTHICD9_2006:457.1]
xref: DOID:4976 {source="MONDO:equivalentTo", source="EFO:0004711"}
xref: EFO:0004711 {source="MONDO:equivalentTo"}
xref: MESH:D004604 {source="DOID:4976", source="MONDO:equivalentTo", source="EFO:0004711"}
xref: UMLS:C0013882 {source="DOID:4976", source="MONDO:equivalentTo"}
is_a: MONDO:0019297 {source="DOID:4976", source="MESH:D004604"} ! lymphedema
property_value: closeMatch http://identifiers.org/snomedct/155485008
property_value: closeMatch http://identifiers.org/snomedct/266334008
property_value: exactMatch DOID:4976
property_value: exactMatch http://identifiers.org/mesh/D004604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013882
property_value: exactMatch NCIT:C34569

[Term]
id: MONDO:0005425
name: podoconiosis
def: "a disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." [https://en.wikipedia.org/wiki/Podoconiosis]
synonym: "elephantiasis from soil" EXACT []
synonym: "non-filarial elephantiasis" EXACT [https://en.wikipedia.org/wiki/Podoconiosis]
synonym: "nonfilarial elephantiasis" EXACT [https://en.wikipedia.org/wiki/Podoconiosis]
synonym: "soil elephantiasis" EXACT [MONDO:patterns/environmental_stimulus]
xref: DOID:0050138 {source="EFO:0004712", source="MONDO:equivalentTo"}
xref: EFO:0004712 {source="MONDO:equivalentTo"}
xref: ICD9:457.1 {source="linkedlifedata"}
xref: SCTID:47595008 {source="EFO:0004712", source="MONDO:equivalentTo"}
is_a: MONDO:0005424 {source="DOID:0050138", source="EFO:0004712", source="MONDO:Redundant"} ! elephantiasis
property_value: exactMatch DOID:0050138
property_value: exactMatch http://identifiers.org/snomedct/47595008

[Term]
id: MONDO:0005426
name: MRI defined brain infarct
def: "An infarct detected by MRI and not determined to be clinically significant" [EFO:0004715]
comment: This term represents a finding not a disease, it may be obsoleted in future
xref: EFO:0004715 {source="MONDO:equivalentTo"}
is_a: MONDO:0005394 {source="EFO:0004715"} ! brain infarction

[Term]
id: MONDO:0005427
name: obsolete vasuclar dementia
is_obsolete: true
replaced_by: MONDO:0004648

[Term]
id: MONDO:0005428
name: obsolete pemphigus vulgaris
is_obsolete: true
replaced_by: MONDO:0008219

[Term]
id: MONDO:0005429
name: prion disease
def: "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." [NCIT:C128346-modified]
comment: Editor note: check relationship to spongiform encephalopathy NCIT:C27585
synonym: "prion disease pathway" EXACT [DOID:649, NCIT:C38853]
synonym: "prion induced disorder" EXACT [CSP2005:2042-5040, DOID:649]
synonym: "prion protein disease" EXACT [DOID:649]
synonym: "spongiform encephalopathy" EXACT [DOID:649, NCIT:C27585]
synonym: "transmissible spongiform encephalopathy" EXACT EXCLUDE [DOID:649]
xref: DOID:649 {source="EFO:0004720", source="MONDO:equivalentTo"}
xref: EFO:0004720 {source="MONDO:equivalentTo"}
xref: ICD10:A81.9 {source="DOID:649"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:05020 {source="MONDO:equivalentTo", source="DOID:649"}
xref: MESH:D017096 {source="MONDO:equivalentTo", source="DOID:649"}
xref: NCIT:C128346 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: SCTID:230284004 {source="MONDO:equivalentTo", source="DOID:649", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0005560 {source="DOID:649", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
is_a: MONDO:0024619 {source="MESH:D017096", source="NCIT:C128346", source="linkedlifedata/inferred"} ! central nervous system infectious disorder
property_value: closeMatch http://identifiers.org/snomedct/193172009
property_value: closeMatch http://identifiers.org/snomedct/20484008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162534
property_value: closeMatch NCIT:C27585
property_value: exactMatch DOID:649
property_value: exactMatch http://identifiers.org/mesh/D017096
property_value: exactMatch http://identifiers.org/snomedct/230284004
property_value: exactMatch NCIT:C128346

[Term]
id: MONDO:0005430
name: early onset hypertension
def: "A form of hypertension with early onset relative to normal range for a given population." [EFO:0004772]
xref: EFO:0004772 {source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="EFO:0004772"} ! hypertensive disorder

[Term]
id: MONDO:0005431
name: obsolete toxic epidermal necrolysis
is_obsolete: true
replaced_by: MONDO:0019810

[Term]
id: MONDO:0005432
name: alcohol and nicotine codependence
def: "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." [EFO:0004776]
xref: EFO:0004776 {source="MONDO:equivalentTo"}
is_a: MONDO:0005303 {source="EFO:0004776"} ! drug dependence

[Term]
id: MONDO:0005433
name: alcohol withdrawal
synonym: "alcohol withdrawal syndrome" EXACT []
xref: EFO:0004777 {source="MONDO:equivalentTo"}
xref: ICD9:291.81 {source="MONDO:equivalentTo", source="EFO:0004777", source="i2s"}
xref: SCTID:191480000 {source="MONDO:equivalentTo", source="EFO:0004777"}
xref: UMLS:C0236663 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005303 {source="EFO:0004777"} ! drug dependence
is_a: MONDO:0005567 {source="MONDO:cjm", source="MONDOLEX:0005433", source="linkedlifedata"} ! substance withdrawal syndrome
property_value: exactMatch http://identifiers.org/snomedct/191480000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236663

[Term]
id: MONDO:0005434
name: skin sensitivity to sun
def: "The response of human skin to sun exposure." [EFO:0004795]
comment: Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587
xref: EFO:0004795 {source="MONDO:equivalentTo"}
is_a: MONDO:0006597 {source="EFO:0004795"} ! photosensitivity disease

[Term]
id: MONDO:0005435
name: anti-neutrophil antibody associated vasculitis
def: "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [EFO:0004826]
xref: EFO:0004826 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="EFO:0004826"} ! autoimmune disease

[Term]
id: MONDO:0005436
name: postoperative ventricular dysfunction
def: "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." [EFO:0004889]
xref: EFO:0004889 {source="MONDO:equivalentTo"}
is_a: MONDO:0005010 {source="EFO:0004889", source="EFO:0004889/inferred"} ! coronary artery disease
is_a: MONDO:0045001 ! cardiac ventricle disease

[Term]
id: MONDO:0005437
name: testicular dysgenesis syndrome
def: "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [EFO:0004893]
xref: EFO:0004893 {source="MONDO:equivalentTo"}
xref: SCTID:445338005 {source="EFO:0004893", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2919755 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001967 {source="linkedlifedata/inferred"} ! gonadal dysgenesis
is_a: MONDO:0002329 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! testicular disease
property_value: exactMatch http://identifiers.org/snomedct/445338005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919755

[Term]
id: MONDO:0005438
name: metastatic malignant neoplasm in the lymph nodes
def: "The spread of a malignant neoplasm to the lymph nodes." [NCIT:C4904]
synonym: "Metastases to lymph nodes" EXACT [NCIT:C4904]
synonym: "metastasis to lymph node" EXACT [NCIT:C4904]
synonym: "metastatic malignant neoplasm to the lymph nodes" EXACT [NCIT:C4904]
synonym: "metastatic neoplasm to the lymph node" EXACT [NCIT:C4904]
synonym: "metastatic tumor to lymph node" EXACT [NCIT:C4904]
xref: EFO:0004906 {source="MONDO:equivalentTo"}
xref: NCIT:C4904 {source="MONDO:kboom-pr-1.00/0.91/29.18", source="MONDO:equivalentTo", source="EFO:0004906"}
xref: UMLS:C0686619 {source="NCIT:C4904", source="MONDO:equivalentTo"}
is_a: MONDO:0001082 {source="MONDO:Redundant", source="NCIT:C4904"} ! lymph node cancer
relationship: excluded_subClassOf MONDO:0004993 {source="EFO:0004906"} ! carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686619
property_value: exactMatch NCIT:C4904

[Term]
id: MONDO:0005439
name: familial hypercholesterolemia
def: "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." [NCIT:C34704]
comment: Editor note: TODO check xrefs
synonym: "familial hyperbetalipoproteinaemia" EXACT [DOID:13810]
synonym: "familial hypercholesteremia" EXACT [CSP2005:1849-4634, DOID:13810]
synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [DOID:13810, MTHICD9_2006:272.0]
synonym: "Fredrickson type IIa lipidaemia" EXACT [DOID:13810]
synonym: "hyperbetalipoproteinemia" EXACT [DOID:13810]
synonym: "hyperlipoproteinemia type II" EXACT [NCIT:C34704]
synonym: "type II hyperlipidemia" RELATED [DOID:13810, NCIT:C34704]
xref: DOID:13810 {source="MONDO:equivalentTo", source="EFO:0004911"}
xref: EFO:0004911 {source="MONDO:equivalentTo"}
xref: ICD10:E78.0 {source="DOID:13810"}
xref: ICD9:V19.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34704 {source="DOID:13810", source="MONDO:equivalentTo"}
xref: OMIMPS:143890 {source="MONDO:equivalentTo"}
xref: SCTID:190773008 {source="DOID:13810", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:CN118841 {source="MONDO:equivalentTo"}
is_a: MONDO:0001336 ! familial hyperlipidemia
is_a: MONDO:0037748 {source="NCIT:C34704"} ! hyperlipoproteinemia
property_value: closeMatch http://identifiers.org/mesh/D006938
property_value: closeMatch http://identifiers.org/omim/144400
property_value: closeMatch http://identifiers.org/snomedct/190772003
property_value: closeMatch http://identifiers.org/snomedct/190775001
property_value: closeMatch http://identifiers.org/snomedct/190776000
property_value: closeMatch http://identifiers.org/snomedct/31654005
property_value: closeMatch http://identifiers.org/snomedct/389985001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020445
property_value: closeMatch Orphanet:406
property_value: exactMatch DOID:13810
property_value: exactMatch http://identifiers.org/snomedct/190773008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118841
property_value: exactMatch NCIT:C34704

[Term]
id: MONDO:0005440
name: embryonal carcinoma
def: "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." [NCIT:C3752]
comment: Editor note: TODO check classification w.r.t carcinoma
subset: gard_rare {source="GARD:0005140"}
subset: ordo_disease {source="Orphanet:180226"}
synonym: "carcinoma, embryonal, malignant" EXACT [NCIT:C3752]
synonym: "embryonal carcinoma" EXACT [MONDO:0015862, NCIT:C3752]
synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308]
xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"}
xref: EFO:0004986 {source="MONDO:equivalentTo"}
xref: GARD:0005140 {source="MONDO:equivalentTo"}
xref: ICD10:C22.7 {source="ORDO:180226/btnt", source="Orphanet:180226"}
xref: ICD10:C71.9 {source="ORDO:180226/btnt", source="Orphanet:180226"}
xref: ICDO:9070/3 {source="NCIT:C3752"}
xref: MESH:D018236 {source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"}
xref: NCIT:C3752 {source="MONDO:equivalentTo", source="EFO:0004986", source="DOID:3308"}
xref: ONCOTREE:EMBCA {source="MONDO:equivalentTo"}
xref: Orphanet:180226 {source="MONDO:equivalentTo"}
xref: UMLS:C0206659 {source="MONDO:equivalentTo", source="NCIT:C3752", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"}
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
relationship: excluded_subClassOf MONDO:0004993 {source="EFO:0004986"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189843003
property_value: closeMatch http://identifiers.org/snomedct/28047004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0855159
property_value: closeMatch NCIT:C8880
property_value: exactMatch DOID:3308
property_value: exactMatch http://identifiers.org/mesh/D018236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206659
property_value: exactMatch NCIT:C3752
property_value: exactMatch Orphanet:180226
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma xsd:anyURI {source="GARD:0005140"}

[Term]
id: MONDO:0005441
name: otitis media (disease)
def: "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." [NCIT:C34885]
synonym: "inflammation of middle ear" EXACT []
synonym: "medial otitis" EXACT [NCIT:C34885]
synonym: "middle Ear Inflammation" EXACT [NCIT:C34885]
synonym: "middle ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C34885]
synonym: "otitis Media" EXACT [NCIT:C34885]
xref: COHD:372328 {source="MONDO:equivalentTo"}
xref: DOID:10754 {source="EFO:0004992", source="MONDO:equivalentTo"}
xref: EFO:0004992 {source="MONDO:equivalentTo"}
xref: HP:0000388 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H66.9 {source="DOID:10754"}
xref: ICD10:H66.90 {source="DOID:10754"}
xref: ICD9:382.9 {source="DOID:10754", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010033 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34885 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"}
xref: SCTID:65363002 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0029882 {source="MEDGEN:kboom-pr98-c99", source="DOID:10754", source="MONDO:equivalentTo", source="NCIT:C34885"}
is_a: MONDO:0003276 {source="DOID:10754", source="MONDO:Redundant", source="NCIT:C34885", source="linkedlifedata"} ! middle ear disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155222006
property_value: closeMatch http://identifiers.org/snomedct/194291009
property_value: closeMatch http://identifiers.org/snomedct/267669008
property_value: exactMatch DOID:10754
property_value: exactMatch http://identifiers.org/mesh/D010033
property_value: exactMatch http://identifiers.org/snomedct/65363002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029882
property_value: exactMatch NCIT:C34885

[Term]
id: MONDO:0005442
name: type 1 diabetes nephropathy
def: "Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy." [EFO:0004996]
xref: EFO:0004996 {source="MONDO:equivalentTo"}
is_a: MONDO:0005016 {source="EFO:0004996", source="MONDO:Entailed", source="MONDO:Redundant"} ! diabetic nephropathy
is_a: MONDO:0007179 ! autoimmune disease
intersection_of: MONDO:0005016 ! diabetic nephropathy
intersection_of: disease_arises_from_feature MONDO:0005147 ! type 1 diabetes mellitus
relationship: disease_arises_from_feature MONDO:0005147 ! type 1 diabetes mellitus

[Term]
id: MONDO:0005443
name: type 2 diabetes nephropathy
def: "Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking." [EFO:0004997]
xref: EFO:0004997 {source="MONDO:equivalentTo"}
is_a: MONDO:0005016 {source="EFO:0004997", source="MONDO:Entailed", source="MONDO:Redundant"} ! diabetic nephropathy
intersection_of: MONDO:0005016 ! diabetic nephropathy
intersection_of: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus
relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus

[Term]
id: MONDO:0005444
name: obsolete leishmaniasis
is_obsolete: true
replaced_by: MONDO:0011989

[Term]
id: MONDO:0005445
name: visceral leishmaniasis
def: "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." [https://en.wikipedia.org/wiki/Visceral_leishmaniasis, https://www.who.int/leishmaniasis/visceral_leishmaniasis/en/]
comment: Editor note: split out susceptibility/PS
synonym: "infection by visceral leishmaniasis" EXACT [DOID:9146, MTHICD9_2006:085.0]
synonym: "kala-azar" EXACT [DOID:9146, NCIT:C34771]
synonym: "kala-azar susceptibility" RELATED [OMIMPS:608207]
synonym: "kala-azar, susceptibility to" RELATED [OMIMPS:608207]
synonym: "viscus leishmaniasis" EXACT [MONDO:patterns/location]
xref: COHD:200652 {source="MONDO:equivalentTo"}
xref: DOID:9146 {source="MONDO:equivalentTo", source="EFO:0005045"}
xref: EFO:0005045 {source="MONDO:equivalentTo"}
xref: ICD10:B55.0 {source="MONDO:equivalentTo", source="DOID:9146"}
xref: ICD9:085.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9146"}
xref: MESH:D007898 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9146"}
xref: NCIT:C34771 {source="MONDO:equivalentTo", source="DOID:9146", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:608207 {source="MONDO:equivalentTo"}
xref: SCTID:186803007 {source="MONDO:equivalentTo", source="DOID:9146", source="EFO:0005045", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023290 {source="MONDO:equivalentTo", source="NCIT:C34771", source="DOID:9146"}
is_a: MONDO:0011989 {source="DOID:9146", source="EFO:0005045", source="ICD10:B55.0", source="MESH:D007898", source="MONDO:Redundant", source="NCIT:C34771", source="linkedlifedata"} ! leishmaniasis
property_value: closeMatch http://identifiers.org/snomedct/48115004
property_value: exactMatch DOID:9146
property_value: exactMatch http://identifiers.org/mesh/D007898
property_value: exactMatch http://identifiers.org/snomedct/186803007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023290
property_value: exactMatch NCIT:C34771

[Term]
id: MONDO:0005446
name: cutaneous leishmaniasis
def: "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas." [NCIT:P378]
synonym: "Asian desert cutaneous leishmaniasis" EXACT [DOID:9111, NCIT:C34770]
synonym: "diffuse cutaneous leishmaniasis" EXACT EXCLUDE [DOID:9111]
synonym: "leproid leishmaniasis" EXACT [DOID:9111]
synonym: "zone of skin leishmaniasis" EXACT [MONDO:patterns/location]
xref: DOID:9111 {source="EFO:0005046", source="MONDO:equivalentTo"}
xref: EFO:0005046 {source="MONDO:equivalentTo"}
xref: ICD10:B55.1 {source="MONDO:equivalentTo", source="DOID:9111"}
xref: ICD9:085.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016773 {source="MONDO:equivalentTo", source="DOID:9111"}
xref: NCIT:C34770 {source="MONDO:kboom-pr-0.91/0.78/0.63", source="MONDO:equivalentTo"}
xref: SCTID:186807008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
xref: UMLS:C0023283 {source="MONDO:equivalentTo", source="DOID:9111"}
is_a: MONDO:0011989 {source="DOID:9111", source="EFO:0005046", source="ICD10:B55.1", source="MESH:D016773", source="MONDO:Redundant", source="NCIT:C34770/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! leishmaniasis
is_a: MONDO:0024610 ! parasitic skin disease
property_value: closeMatch http://identifiers.org/snomedct/240637006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023285
property_value: closeMatch NCIT:C34768
property_value: exactMatch DOID:9111
property_value: exactMatch http://identifiers.org/mesh/D016773
property_value: exactMatch http://identifiers.org/snomedct/186807008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023283
property_value: exactMatch NCIT:C34770

[Term]
id: MONDO:0005447
name: testicular cancer
def: "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." [NCIT:C7251]
synonym: "cancer of testis" EXACT [MONDO:patterns/cancer]
synonym: "childhood neoplasm of the testis" NARROW EXCLUDE [DOID:2998]
synonym: "malignant neoplasm of testis" EXACT [MONDO:patterns/cancer, NCIT:C7251]
synonym: "malignant neoplasm of the testis" EXACT [NCIT:C7251]
synonym: "malignant testicular neoplasm" EXACT [NCIT:C7251]
synonym: "malignant testicular tumor" EXACT [NCIT:C7251]
synonym: "malignant testis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of testis" EXACT [NCIT:C7251]
synonym: "malignant tumor of the testis" EXACT [NCIT:C7251]
synonym: "neoplasm of testis" EXACT EXCLUDE [DOID:2998]
synonym: "pediatric testicular neoplasm" RELATED EXCLUDE [DOID:2998, NCIT:C5053]
synonym: "testicular tumor" BROAD [DOID:2998, NCIT:C3404]
synonym: "testis cancer" EXACT [DOID:2998, MONDO:patterns/location]
synonym: "testis neoplasm" BROAD [CSP2005:2016-2999, DOID:2998]
xref: DOID:2998 {source="MONDO:equivalentTo", source="EFO:0005088"}
xref: EFO:0005088 {source="MONDO:equivalentTo"}
xref: GARD:0007746 {source="MONDO:equivalentTo"}
xref: ICD10:C62 {source="DOID:2998"}
xref: ICD10:C62.9 {source="DOID:2998"}
xref: ICD10:C62.90 {source="DOID:2998"}
xref: ICD9:186 {source="DOID:2998"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013736 {source="MONDO:equivalentTo", source="DOID:2998", source="MONDO:ontobio"}
xref: NCIT:C7251 {source="MONDO:equivalentTo", source="DOID:2998"}
xref: SCTID:363449006 {source="MONDO:equivalentTo", source="DOID:2998"}
is_a: MONDO:0005836 {source="DOID:2998", source="MESH:D013736", source="MONDO:Redundant", source="NCIT:C7251"} ! male reproductive organ cancer
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C7251", source="linkedlifedata"} ! neoplasm of testis
property_value: closeMatch http://identifiers.org/snomedct/188228003
property_value: closeMatch http://identifiers.org/snomedct/236778008
property_value: closeMatch http://identifiers.org/snomedct/269472003
property_value: closeMatch http://identifiers.org/snomedct/94087009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039590
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153594
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333010
property_value: exactMatch DOID:2998
property_value: exactMatch http://identifiers.org/mesh/D013736
property_value: exactMatch http://identifiers.org/snomedct/363449006
property_value: exactMatch NCIT:C7251

[Term]
id: MONDO:0005448
name: hepatitis C induced liver cirrhosis
def: "liver injury resulting from hepatitis C infection" [EFO:0005129]
xref: EFO:0005129 {source="MONDO:equivalentTo"}
is_a: MONDO:0005155 {source="MONDO:Redundant", source="MONDO:cjm"} ! cirrhosis of liver
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0005155 ! cirrhosis of liver
intersection_of: disease_arises_from_feature MONDO:0005231 ! hepatitis C virus infection
relationship: disease_arises_from_feature MONDO:0005231 ! hepatitis C virus infection

[Term]
id: MONDO:0005449
name: conduction system disorder
def: "A disease involving the conducting system of heart." [MONDO:patterns/location_top]
synonym: "conducting system of heart disease" EXACT [MONDO:patterns/location]
synonym: "conducting system of heart disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of conducting system of heart" EXACT [MONDO:cjm, MONDO:patterns/location_top]
synonym: "disease or disorder of conducting system of heart" EXACT []
synonym: "disorder of conducting system of heart" EXACT [MONDO:patterns/location_top]
synonym: "disorder of conducting system of heart" RELATED [MONDO:patterns/location_top]
xref: EFO:0005137 {source="MONDO:equivalentTo"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0024643 ! myocardial disorder

[Term]
id: MONDO:0005450
name: obsolete autoimmune disease
is_obsolete: true
replaced_by: MONDO:0007179

[Term]
id: MONDO:0005451
name: eating disorder
def: "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." [NCIT:C89332]
synonym: "eating disorder" EXACT [NCIT:C89332]
xref: COHD:439002 {source="MONDO:equivalentTo"}
xref: DOID:8670 {source="EFO:0005203", source="MONDO:equivalentTo"}
xref: EFO:0005203 {source="MONDO:equivalentTo"}
xref: ICD10:F50 {source="DOID:8670"}
xref: ICD10:F50.9 {source="DOID:8670"}
xref: ICD9:307.50 {source="MONDO:equivalentTo", source="i2s", source="DOID:8670"}
xref: ICD9:307.59 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C89332 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670", source="exact-label-match"}
xref: SCTID:72366004 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005137 {source="NCIT:C89332"} ! nutritional disorder
relationship: excluded_subClassOf MONDO:0000592 {source="DOID:8670"} ! specific developmental disorder
property_value: closeMatch http://identifiers.org/snomedct/192444003
property_value: closeMatch http://identifiers.org/snomedct/192452000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013473
property_value: exactMatch DOID:8670
property_value: exactMatch http://identifiers.org/snomedct/72366004
property_value: exactMatch NCIT:C89332

[Term]
id: MONDO:0005452
name: bulimia nervosa
def: "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." [NCIT:C34440]
synonym: "bulimia" EXACT [NCIT:C34440]
synonym: "hyperorexia nervosa" EXACT [DOID:12129]
xref: COHD:438407 {source="MONDO:equivalentTo"}
xref: DOID:12129 {source="EFO:0005204", source="MONDO:equivalentTo"}
xref: EFO:0005204 {source="MONDO:equivalentTo"}
xref: ICD10:F50.2 {source="DOID:12129", source="MONDO:equivalentTo"}
xref: ICD9:307.51 {source="EFO:0005204", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D052018 {source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34440 {source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:78004001 {source="DOID:12129", source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005451 {source="DOID:12129", source="EFO:0005204", source="NCIT:C34440", source="linkedlifedata"} ! eating disorder
property_value: closeMatch http://identifiers.org/snomedct/192013000
property_value: closeMatch http://identifiers.org/snomedct/192447005
property_value: closeMatch http://identifiers.org/snomedct/206939001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006370
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2267227
property_value: exactMatch DOID:12129
property_value: exactMatch http://identifiers.org/mesh/D052018
property_value: exactMatch http://identifiers.org/snomedct/78004001
property_value: exactMatch NCIT:C34440

[Term]
id: MONDO:0005453
name: congenital heart disease
def: "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." [NCIT:P378]
synonym: "abnormalities, heart" RELATED [MESH:D006330]
synonym: "Abnormality, heart" RELATED [MESH:D006330]
synonym: "congenital anomaly of heart" EXACT [DOID:1682]
synonym: "congenital heart defect" EXACT [DOID:1682, MESH:D006330]
synonym: "congenital heart defects" EXACT [DOID:1682, MESH:D006330, MTH:NOCODE]
synonym: "defect, congenital heart" RELATED [MESH:D006330]
synonym: "defects, congenital heart" RELATED [MESH:D006330]
synonym: "heart abnormalities" RELATED [MESH:D006330]
synonym: "heart abnormality" RELATED [MESH:D006330]
synonym: "heart defect" EXACT [CSP2005:0724-8315, DOID:1682]
synonym: "heart defect, congenital" RELATED [MESH:D006330]
synonym: "heart malformation" EXACT [DOID:1682, NCIT:C34666]
synonym: "heart, malformation Of" RELATED [MESH:D006330]
synonym: "heart-congenital defect" RELATED [DOID:1682]
xref: COHD:312723 {source="MONDO:equivalentTo"}
xref: DOID:1682 {source="EFO:0005207", source="MONDO:equivalentTo"}
xref: EFO:0005207 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.9 {source="DOID:1682"}
xref: ICD9:746.84 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:746.9 {source="DOID:1682", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006330 {source="DOID:1682", source="MONDO:equivalentTo"}
xref: NCIT:C95834 {source="EFO:0005207", source="MONDO:equivalentTo"}
xref: SCTID:13213009 {source="DOID:1682", source="EFO:0005207", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN169364 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:1682", source="EFO:0005207", source="MESH:D006330", source="NCIT:C95834/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease
is_a: MONDO:0024239 {source="NCIT:C95834", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system
property_value: closeMatch http://identifiers.org/snomedct/156911006
property_value: closeMatch http://identifiers.org/snomedct/156926008
property_value: closeMatch http://identifiers.org/snomedct/204405005
property_value: closeMatch http://identifiers.org/snomedct/204413006
property_value: closeMatch http://identifiers.org/snomedct/268315002
property_value: closeMatch http://identifiers.org/snomedct/268318000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018798
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152021
property_value: closeMatch NCIT:C34666
property_value: exactMatch DOID:1682
property_value: exactMatch http://identifiers.org/mesh/D006330
property_value: exactMatch http://identifiers.org/snomedct/13213009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN169364
property_value: exactMatch NCIT:C95834

[Term]
id: MONDO:0005454
name: lung neuroendocrine neoplasm
def: "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." [NCIT:C5670]
synonym: "lung NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5670]
synonym: "lung neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of lung" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5670]
synonym: "neuroendocrine neoplasm of the lung" EXACT [NCIT:C5670]
synonym: "pulmonary neuroendocrine neoplasm" EXACT [NCIT:C5670]
synonym: "pulmonary neuroendocrine tumor" RELATED [DOID:5410]
xref: DOID:5410 {source="MONDO:equivalentTo", source="EFO:0005220"}
xref: EFO:0005220 {source="MONDO:equivalentTo"}
xref: ICD9:209.61 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5670 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220"}
xref: ONCOTREE:LNET {source="MONDO:equivalentTo"}
xref: SCTID:707594002 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334452 {source="DOID:5410", source="NCIT:C5670", source="MONDO:equivalentTo"}
is_a: MONDO:0019496 {source="EFO:0005220", source="MONDO:Redundant", source="NCIT:C5670", source="linkedlifedata"} ! neuroendocrine neoplasm
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5670", source="ONCOTREE:LNET", source="OWLReasoner:2017"} ! lung neoplasm
property_value: exactMatch DOID:5410
property_value: exactMatch http://identifiers.org/snomedct/707594002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334452
property_value: exactMatch NCIT:C5670

[Term]
id: MONDO:0005455
name: obsolete cholangiocarcinoma
is_obsolete: true
replaced_by: MONDO:0019087

[Term]
id: MONDO:0005456
name: obsolete avian influenza
is_obsolete: true
replaced_by: MONDO:0018695

[Term]
id: MONDO:0005457
name: obsolete acute stress reaction
is_obsolete: true
replaced_by: MONDO:0003763

[Term]
id: MONDO:0005458
name: obsolete q fever
is_obsolete: true
replaced_by: MONDO:0019186

[Term]
id: MONDO:0005459
name: human African trypanosomiasis
alt_id: MONDO:0018073
def: "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." [NCIT:P378]
subset: ordo_disease {source="Orphanet:3385"}
synonym: "Africam sleeping sickness" EXACT [MONDO:cjm]
synonym: "African sleeping sickness" EXACT [CSP2005:2214-6161, DOID:10112]
synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE]
synonym: "sleeping sickness" EXACT [DOID:10112, Orphanet:3385]
xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"}
xref: EFO:0005225 {source="MONDO:equivalentTo"}
xref: GARD:0007826 {source="MONDO:equivalentTo"}
xref: ICD10:B56 {source="MONDO:subClassOf", source="DOID:10112"}
xref: ICD10:B56.0 {source="ORDO:3385/btnt", source="Orphanet:3385"}
xref: ICD10:B56.1 {source="ORDO:3385/btnt", source="Orphanet:3385"}
xref: ICD10:B56.9 {source="ORDO:3385/btnt", source="Orphanet:3385", source="DOID:10112"}
xref: ICD9:086.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:10112"}
xref: KEGG:05143 {source="MONDO:equivalentTo", source="DOID:10112"}
xref: MedDRA:10001461 {source="Orphanet:3385", source="ORDO:3385/e"}
xref: MESH:D014353 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="Orphanet:3385", source="DOID:10112", source="ORDO:3385/e"}
xref: NCIT:C84541 {source="EFO:0005225", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:10112"}
xref: Orphanet:3385 {source="MONDO:equivalentTo"}
xref: SCTID:27031003 {source="EFO:0005225", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20", source="DOID:10112"}
xref: UMLS:C0041228 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="NCIT:C84541", source="Orphanet:3385", source="DOID:10112", source="ORDO:3385/e"}
is_a: MONDO:0000940 {source="DOID:10112", source="EFO:0005225", source="linkedlifedata"} ! trypanosomiasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0002280 {source="Wikidata"} ! anemia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186818008
property_value: closeMatch http://identifiers.org/snomedct/187512007
property_value: exactMatch DOID:10112
property_value: exactMatch http://identifiers.org/meddra/10001461
property_value: exactMatch http://identifiers.org/mesh/D014353
property_value: exactMatch http://identifiers.org/snomedct/27031003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041228
property_value: exactMatch NCIT:C84541
property_value: exactMatch Orphanet:3385

[Term]
id: MONDO:0005460
name: swine influenza
def: "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." [NCIT:C80444]
synonym: "H1N1 flu" EXACT [NCIT:C80444]
synonym: "H1N1 Influenza" EXACT [NCIT:C80444]
synonym: "H1N1 Virus infection" EXACT [NCIT:C80444]
synonym: "Influenza A (H1N1)" EXACT [NCIT:C80444]
synonym: "Influenza A (H1N1) Virus infection" EXACT [NCIT:C80444]
synonym: "swine flu" EXACT [NCIT:C80444]
synonym: "Swine influenza virus caused influenza" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Swine influenza virus influenza" EXACT []
xref: DOID:0050211 {source="EFO:0005226", source="MONDO:equivalentTo"}
xref: EFO:0005226 {source="MONDO:equivalentTo"}
xref: NCIT:C80444 {source="MONDO:equivalentTo"}
xref: SCTID:442696006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005812 {source="DOID:0050211", source="EFO:0005226", source="MONDO:Redundant", source="NCIT:C80444"} ! influenza
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2076600
property_value: exactMatch DOID:0050211
property_value: exactMatch http://identifiers.org/snomedct/442696006
property_value: exactMatch NCIT:C80444

[Term]
id: MONDO:0005461
name: endometrium adenocarcinoma
def: "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." [NCIT:C7359]
synonym: "adenocarcinoma of endometrium" EXACT [NCIT:C7359]
synonym: "adenocarcinoma of the endometrium" EXACT [DOID:2870, NCIT:C7359]
synonym: "adenocarcinoma of uterus" EXACT [DOID:2870]
synonym: "adenocarcinoma, endometrial, malignant" EXACT [NCIT:C7359]
synonym: "endometrial adenoacanthoma" EXACT [DOID:2870]
synonym: "endometrial adenocarcinoma" EXACT [NCIT:C7359]
synonym: "endometrial endometrioid adenocarcinoma" RELATED [DOID:2870]
synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [DOID:2870, NCIT:C8027]
synonym: "endometrioid adenoma or carcinoma" EXACT [DOID:2870]
synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [DOID:2870]
synonym: "endometrioid adenomas and carcinomas" EXACT [DOID:2870]
synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [DOID:2870]
synonym: "endometrioid carcinoma of endometrium" EXACT [DOID:2870, NCIT:C6287]
synonym: "endometrium adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2870 {source="MONDO:equivalentTo", source="EFO:0005232"}
xref: EFO:0005232 {source="MONDO:equivalentTo"}
xref: NCIT:C7359 {source="DOID:2870", source="MONDO:equivalentTo", source="EFO:0005232"}
xref: UMLS:C0279763 {source="MEDGEN:kboom-pr98-c99", source="DOID:2870", source="MONDO:equivalentTo"}
xref: UMLS:C1153706 {source="MEDGEN:kboom-pr98-c99", source="DOID:2870", source="MONDO:equivalentTo", source="NCIT:C7359"}
is_a: MONDO:0002447 {source="DOID:2870", source="MONDO:Redundant", source="MONDOLEX:0005461", source="NCIT:C7359"} ! endometrial carcinoma (disease)
is_a: MONDO:0004970 {source="DOID:2870", source="EFO:0005232", source="MONDO:Redundant", source="MONDOLEX:0005461", source="NCIT:C7359"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/123845008
property_value: closeMatch http://identifiers.org/snomedct/189649001
property_value: closeMatch http://identifiers.org/snomedct/189652009
property_value: closeMatch http://identifiers.org/snomedct/309245001
property_value: closeMatch NCIT:C6290
property_value: exactMatch DOID:2870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1153706
property_value: exactMatch NCIT:C7359

[Term]
id: MONDO:0005462
name: primitive neuroectodermal tumor
def: "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." [NCIT:C3716]
comment: Editor note: TODO check relationship to neuroepithelioma
synonym: "neuroectodermal neoplasm" EXACT [NCIT:C3716]
synonym: "neuroectodermal tumor" EXACT [MONDO:0002084, NCIT:C3716]
synonym: "neuroepithelioma" RELATED [NCIT:C3716]
synonym: "PNET" EXACT [NCIT:C3716]
synonym: "primitive neuroectodermal neoplasm" EXACT [DOID:171, NCIT:C3716]
synonym: "primitive neuroectodermal tumor" EXACT [NCIT:C3716]
synonym: "primitive neuroectodermal tumor (PNET)" EXACT [NCIT:C3716]
xref: DOID:171 {source="MONDO:equivalentTo"}
xref: EFO:0005235 {source="MONDO:equivalentTo"}
xref: ICDO:9473/3 {source="NCIT:C3716"}
xref: ICDO:9503/3 {source="NCIT:C3716"}
xref: MESH:D017599 {source="MONDO:equivalentTo", source="DOID:171", source="MONDO:ontobio"}
xref: NCIT:C3716 {source="EFO:0005235", source="MONDO:equivalentTo", source="ONCOTREE:PNET"}
xref: ONCOTREE:PNET {source="MONDO:equivalentTo"}
is_a: MONDO:0016708 ! embryonal tumor of neuroepithelial tissue
relationship: excluded_subClassOf MONDO:0002510 {source="MESH:D017599"} ! obsolete germ cell and embryonal cancer
relationship: excluded_subClassOf MONDO:0005872 {source="DOID:171"} ! nervous system cancer
property_value: closeMatch http://identifiers.org/snomedct/253096008
property_value: closeMatch http://identifiers.org/snomedct/39781001
property_value: closeMatch http://identifiers.org/snomedct/699028006
property_value: closeMatch http://identifiers.org/snomedct/73676002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206093
property_value: exactMatch DOID:171
property_value: exactMatch http://identifiers.org/mesh/D017599
property_value: exactMatch NCIT:C3716

[Term]
id: MONDO:0005463
name: aortic valve calcification (disease)
def: "calcification of the aortic valve" [EFO:0005239]
synonym: "aortic valve calcification" EXACT [MONDO:ambiguous]
xref: EFO:0005239 {source="MONDO:equivalentTo"}
xref: HP:0004380 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:250978003 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equivalentTo", source="EFO:0005239"}
xref: UMLS:C0428791 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003803 ! aortic valve disease
property_value: exactMatch http://identifiers.org/snomedct/250978003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0428791

[Term]
id: MONDO:0005464
name: rhegmatogenous retinal detachment
def: "Retinal detachment secondary to retinal tear or break." [NCIT:P378]
xref: EFO:0005240 {source="MONDO:equivalentTo"}
xref: NCIT:C118755 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0005240"}
xref: SCTID:19620000 {source="MONDO:equivalentTo", source="EFO:0005240", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271055 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C118755"}
is_a: MONDO:0008375 {source="EFO:0005240", source="NCIT:C118755", source="linkedlifedata"} ! retinal detachment
property_value: exactMatch http://identifiers.org/snomedct/19620000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271055
property_value: exactMatch NCIT:C118755

[Term]
id: MONDO:0005465
name: methamphetamine-induced psychosis
def: "abnormal mental state resulting from an abuse of methamphetamine" [EFO:0005242]
xref: EFO:0005242 {source="MONDO:equivalentTo"}
is_a: MONDO:0005485 {source="MONDO:cjm", source="MONDOLEX:0005465"} ! psychotic disorder

[Term]
id: MONDO:0005466
name: hypersomnia (disease)
def: "A sleep disorder characterized by excessive sleepiness." [NCIT:P378]
synonym: "hypersomnia" EXACT [MONDO:ambiguous]
xref: EFO:0005246 {source="MONDO:equivalentTo"}
xref: HP:0100786 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:780.54 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C78346 {source="EFO:0005246", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:77692006 {source="EFO:0005246", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.45"}
xref: UMLS:C0917799 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C78346"}
is_a: MONDO:0003406 {source="EFO:0005246", source="NCIT:C78346", source="linkedlifedata/inferred"} ! sleep-wake disorder
property_value: exactMatch http://identifiers.org/snomedct/77692006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917799
property_value: exactMatch NCIT:C78346

[Term]
id: MONDO:0005467
name: occupation-related stress disorder
def: "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." [EFO:0005250]
xref: EFO:0005250 {source="MONDO:equivalentTo"}
xref: SCTID:10586006 {source="MONDO:equivalentTo", source="EFO:0005250", source="MONDO:kboom-pr-1.00/0.91/28.00"}
xref: Wikipedia:Occupational_stress {source="EFO:0005250"}
is_a: MONDO:0005084 {source="EFO:0005250", source="linkedlifedata", source="linkedlifedata/inferred"} ! mental disorder
property_value: exactMatch http://identifiers.org/snomedct/10586006

[Term]
id: MONDO:0005468
name: hypotensive disorder
def: "Blood pressure that is abnormally low." [NCIT:P378]
synonym: "hypotension" EXACT [MONDO:ambiguous]
synonym: "hypotension (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1030]
xref: EFO:0005251 {source="MONDO:equivalentTo"}
xref: HP:0002615 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:458 {source="EFO:0005251"}
xref: ICD9:458.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:458.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007022 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0005251"}
xref: SCTID:45007003 {source="MONDO:equivalentTo", source="EFO:0005251", source="MONDO:kboom-pr-1.00/0.75/7.15"}
is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1030"} ! arterial disorder
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:0005251", source="MESH:D007022/inferred", source="linkedlifedata"} ! cardiovascular disease
property_value: exactMatch http://identifiers.org/mesh/D007022
property_value: exactMatch http://identifiers.org/snomedct/45007003
property_value: exactMatch NCIT:C3128

[Term]
id: MONDO:0005469
name: orthostatic hypotension (disease)
def: "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." [NCIT:P378]
synonym: "orthostatic hypotension" EXACT [MONDO:ambiguous]
xref: EFO:0005252 {source="MONDO:equivalentTo"}
xref: HP:0001278 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:458.0 {source="MONDO:equivalentTo", source="i2s", source="EFO:0005252"}
xref: SCTID:28651003 {source="MONDO:equivalentTo", source="EFO:0005252"}
is_a: MONDO:0005468 {source="EFO:0005252", source="linkedlifedata"} ! hypotensive disorder
property_value: exactMatch http://identifiers.org/snomedct/28651003
property_value: exactMatch NCIT:C84970

[Term]
id: MONDO:0005470
name: postprandial hypotension
def: "drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines." [EFO:0005253]
xref: EFO:0005253 {source="MONDO:equivalentTo"}
is_a: MONDO:0005468 {source="EFO:0005253"} ! hypotensive disorder

[Term]
id: MONDO:0005471
name: neurally mediated hypotension
def: "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" [EFO:0005254]
xref: EFO:0005254 {source="MONDO:equivalentTo"}
is_a: MONDO:0005468 {source="EFO:0005254"} ! hypotensive disorder

[Term]
id: MONDO:0005472
name: obsolete congenital heart malformation
is_obsolete: true
replaced_by: MONDO:0019512

[Term]
id: MONDO:0005473
name: temporomandibular joint disorder
def: "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." [NCIT:P378]
synonym: "TMD" EXACT [NCIT:C63709]
xref: COHD:74396 {source="MONDO:equivalentTo"}
xref: EFO:0005279 {source="MONDO:equivalentTo"}
xref: ICD9:524.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:524.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C63709 {source="EFO:0005279", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: SCTID:41888000 {source="EFO:0005279", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005042 {source="EFO:0005279", source="linkedlifedata/inferred"} ! head disease
is_a: MONDO:0006816 {source="MESH:D013705", source="NCIT:C63709", source="linkedlifedata"} ! arthropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039494
property_value: exactMatch http://identifiers.org/mesh/D013705
property_value: exactMatch http://identifiers.org/snomedct/41888000
property_value: exactMatch NCIT:C63709

[Term]
id: MONDO:0005474
name: obsolete non-small cell lung adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005061

[Term]
id: MONDO:0005475
name: migraine with aura
def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." [NCIT:P378]
synonym: "classic migraine" EXACT [DOID:10024]
xref: COHD:381549 {source="MONDO:equivalentTo"}
xref: DOID:10024 {source="MONDO:equivalentTo", source="EFO:0005295"}
xref: EFO:0005295 {source="MONDO:equivalentTo"}
xref: HP:0002077 {source="MONDO:otherHierarchy", source="EFO:0005295"}
xref: ICD10:G43.1 {source="DOID:10024"}
xref: ICD10:G43.109 {source="DOID:10024"}
xref: ICD9:346.0 {source="EFO:0005295", source="DOID:10024"}
xref: ICD9:346.00 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020325 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"}
xref: NCIT:C117005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0005295", source="DOID:10024"}
xref: SCTID:4473006 {source="MONDO:equivalentTo", source="EFO:0005295", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10024"}
xref: UMLS:C0154723 {source="MONDO:equivalentTo", source="NCIT:C117005", source="DOID:10024"}
is_a: MONDO:0005277 {source="DOID:10024", source="EFO:0005295", source="MESH:D020325", source="NCIT:C117005"} ! migraine disorder
property_value: closeMatch http://identifiers.org/snomedct/155047002
property_value: exactMatch DOID:10024
property_value: exactMatch http://identifiers.org/mesh/D020325
property_value: exactMatch http://identifiers.org/snomedct/4473006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154723
property_value: exactMatch NCIT:C117005

[Term]
id: MONDO:0005476
name: atrioventricular node disease
def: "A disease involving the atrioventricular node." [MONDO:patterns/location_top]
synonym: "atrioventricular node disease" EXACT [MONDO:patterns/location]
synonym: "atrioventricular node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of atrioventricular node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of atrioventricular node" EXACT []
synonym: "disorder of atrioventricular node" EXACT [MONDO:patterns/location_top]
synonym: "disorder of atrioventricular node" RELATED [MONDO:patterns/location_top]
xref: EFO:0005305 {source="MONDO:equivalentTo"}
is_a: MONDO:0005449 {source="EFO:0005305", source="MONDO:Entailed", source="MONDO:Redundant"} ! conduction system disorder

[Term]
id: MONDO:0005477
name: ventricular tachycardia
def: "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" [NCIT:P378]
xref: COHD:4103295 {source="MONDO:equivalentTo"}
xref: EFO:0005306 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:equivalentTo"}
xref: MESH:D017180 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50802 {source="EFO:0005306", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:25569003 {source="EFO:0005306", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042514 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C50802", source="MONDO:equivalentTo"}
is_a: MONDO:0007263 {source="EFO:0005306", source="NCIT:C50802"} ! cardiac rhythm disease
property_value: exactMatch http://identifiers.org/mesh/D017180
property_value: exactMatch http://identifiers.org/snomedct/25569003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042514
property_value: exactMatch NCIT:C50802

[Term]
id: MONDO:0005478
name: torsades de pointes
def: "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." [MESH:D016171]
xref: EFO:0005307 {source="MONDO:equivalentTo"}
xref: HP:0001664 {source="MONDO:otherHierarchy", source="EFO:0005307"}
xref: MESH:D016171 {source="MONDO:equivalentTo", source="EFO:0005307", source="MONDO:ontobio"}
xref: SCTID:31722008 {source="MONDO:equivalentTo", source="EFO:0005307", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0040479 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005477 {source="EFO:0005307", source="MESH:D016171", source="linkedlifedata", source="linkedlifedata/inferred"} ! ventricular tachycardia
property_value: exactMatch http://identifiers.org/mesh/D016171
property_value: exactMatch http://identifiers.org/snomedct/31722008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040479

[Term]
id: MONDO:0005479
name: atrial tachycardia
def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" [NCIT:P378]
xref: EFO:0005308 {source="MONDO:equivalentTo"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35481 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0005308"}
xref: SCTID:276796006 {source="MONDO:equivalentTo", source="EFO:0005308", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0007263 {source="EFO:0005308", source="NCIT:C35481/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546959
property_value: exactMatch http://identifiers.org/snomedct/276796006
property_value: exactMatch NCIT:C35481

[Term]
id: MONDO:0005480
name: contact dermatitis
def: "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." [NCIT:C26743]
synonym: "contact dermatitis" EXACT [NCIT:C26743]
synonym: "contact dermatitis NOS" RELATED EXCLUDE [DOID:2773]
synonym: "contact dermatitis/eczema" EXACT [DOID:2773]
synonym: "contact eczema" NARROW [DOID:2773]
synonym: "dermatitis venenata" EXACT [CSP2005:2716-6989, DOID:2773]
synonym: "dermatitis, venenata" EXACT [DOID:2773]
synonym: "dermatitis, venenata NOS" RELATED EXCLUDE [DOID:2773, MTHICD9_2006:692.9]
xref: COHD:134438 {source="MONDO:equivalentTo"}
xref: DOID:2773 {source="MONDO:equivalentTo", source="EFO:0005319"}
xref: EFO:0005319 {source="MONDO:equivalentTo"}
xref: ICD10:L25 {source="DOID:2773"}
xref: ICD10:L25.9 {source="DOID:2773"}
xref: ICD9:692.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003877 {source="DOID:2773", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26743 {source="DOID:2773", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0005319"}
xref: SCTID:40275004 {source="DOID:2773", source="MONDO:equivalentTo", source="EFO:0005319", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011616 {source="DOID:2773", source="MONDO:equivalentTo", source="NCIT:C26743"}
is_a: MONDO:0002406 {source="DOID:2773", source="MESH:D003877", source="NCIT:C26743"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156338009
property_value: closeMatch http://identifiers.org/snomedct/156348006
property_value: closeMatch http://identifiers.org/snomedct/200780008
property_value: closeMatch http://identifiers.org/snomedct/200883000
property_value: closeMatch http://identifiers.org/snomedct/200889001
property_value: closeMatch http://identifiers.org/snomedct/267842005
property_value: closeMatch http://identifiers.org/snomedct/267846008
property_value: exactMatch DOID:2773
property_value: exactMatch http://identifiers.org/mesh/D003877
property_value: exactMatch http://identifiers.org/snomedct/40275004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011616
property_value: exactMatch NCIT:C26743

[Term]
id: MONDO:0005481
name: contact dermatitis due to nickel
def: "a form of allergic contact dermatitis that results from exposure to nickel" [EFO:0005320]
xref: EFO:0005320 {source="MONDO:equivalentTo"}
xref: SCTID:93419003 {source="MONDO:equivalentTo", source="EFO:0005320", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0684345 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005480 {source="EFO:0005320", source="MONDO:Redundant", source="MONDOLEX:0005481", source="linkedlifedata", source="linkedlifedata/inferred"} ! contact dermatitis
property_value: exactMatch http://identifiers.org/snomedct/93419003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684345

[Term]
id: MONDO:0005482
name: molar-incisor hypomineralization
def: "a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" [EFO:0005321]
xref: EFO:0005321 {source="MONDO:equivalentTo"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:698053001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0005042 {source="EFO:0005321", source="linkedlifedata/inferred"} ! head disease
property_value: exactMatch http://identifiers.org/snomedct/698053001

[Term]
id: MONDO:0005483
name: chemotherapy-induced alopecia
def: "hair loss as a result of chemotherapy treatment" [EFO:0005400]
xref: EFO:0005400 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="EFO:0005400"} ! alopecia
is_a: MONDO:0005042 ! head disease

[Term]
id: MONDO:0005484
name: colorectal adenoma
alt_id: MONDO:0000529
def: "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:C5673]
synonym: "adenoma of large bowel" EXACT [NCIT:C5673]
synonym: "adenoma of large intestine" EXACT [NCIT:C5673]
synonym: "adenoma of the large bowel" EXACT [NCIT:C5673]
synonym: "adenoma of the large intestine" EXACT [NCIT:C5673]
synonym: "colorectal adenoma" EXACT [NCIT:C5673]
synonym: "colorectum adenoma" EXACT [MONDO:patterns/location]
synonym: "large bowel adenoma" EXACT [NCIT:C5673]
synonym: "large intestine adenoma" EXACT [NCIT:C5673]
xref: DOID:0050860 {source="MONDO:equivalentTo", source="EFO:0005406"}
xref: DOID:0050914 {source="MONDO:equivalentTo"}
xref: EFO:0005406 {source="MONDO:equivalentTo"}
xref: NCIT:C5673 {source="MONDO:equivalentTo", source="EFO:0005406"}
xref: SCTID:399432003 {source="MONDO:kboom-pr-0.90/0.76/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C1302401 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5673", source="MONDO:equivalentTo"}
is_a: MONDO:0005335 {source="EFO:0005406", source="MONDO:Redundant", source="NCIT:C5673"} ! colorectal neoplasm
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C5673"} ! digestive system adenoma
property_value: exactMatch DOID:0050860
property_value: exactMatch DOID:0050914
property_value: exactMatch http://identifiers.org/snomedct/399432003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302401
property_value: exactMatch NCIT:C5673

[Term]
id: MONDO:0005485
name: psychotic disorder
def: "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." [https://en.wikipedia.org/wiki/Psychosis]
synonym: "mental or behavioural disorder" BROAD [DOID:2468]
synonym: "psychosis" EXACT [MONDO:ambiguous]
xref: DOID:2468 {source="MONDO:equivalentTo"}
xref: EFO:0005407 {source="MONDO:equivalentTo"}
xref: HP:0000709 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:298.8 {source="DOID:2468"}
xref: ICD9:298.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C78576 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0005407"}
xref: SCTID:69322001 {source="MONDO:kboom-pr-1.00/0.74/6.09", source="MONDO:equivalentTo"}
is_a: MONDO:0002039 {source="DOID:2468"} ! cognitive disorder
is_a: MONDO:0005084 {source="EFO:0005407", source="MONDOLEX:0005485", source="linkedlifedata"} ! mental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029516
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033975
property_value: exactMatch DOID:2468
property_value: exactMatch http://identifiers.org/snomedct/69322001
property_value: exactMatch NCIT:C78576

[Term]
id: MONDO:0005486
name: tooth agenesis
def: "Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." [Orphanet:99798]
subset: ordo_morphological_anomaly {source="Orphanet:99798"}
synonym: "familial tooth agenesis" EXACT [DOID:0050591]
synonym: "hypodontia" EXACT [DOID:0050591]
synonym: "oligodontia" EXACT [DOID:0050591]
synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798]
synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600]
xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"}
xref: EFO:0005410 {source="MONDO:equivalentTo"}
xref: ICD10:K00.0 {source="Orphanet:99798", source="ORDO:99798/inclusion", source="DOID:0050591", source="MONDO:directSiblingOf", source="ORDO:99798/ntbt"}
xref: ICD9:520.0 {source="DOID:0050591"}
xref: OMIMPS:106600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:99798 {source="MONDO:equivalentTo", source="DOID:0050591"}
xref: SCTID:64969001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
xref: UMLS:CN169366 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:99798"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:99798"} ! rare genetic odontal or periodontal disorder
property_value: closeMatch http://identifiers.org/snomedct/196265005
property_value: closeMatch http://identifiers.org/snomedct/196266006
property_value: closeMatch http://identifiers.org/snomedct/196269004
property_value: closeMatch http://identifiers.org/snomedct/234951001
property_value: closeMatch http://identifiers.org/snomedct/26624006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399352
property_value: closeMatch Orphanet:2227
property_value: exactMatch DOID:0050591
property_value: exactMatch http://identifiers.org/snomedct/64969001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN169366
property_value: exactMatch Orphanet:99798

[Term]
id: MONDO:0005487
name: schizoaffective disorder
def: "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." [NCIT:P378]
xref: COHD:4286201 {source="MONDO:equivalentTo"}
xref: DOID:5418 {source="EFO:0005411", source="MONDO:equivalentTo"}
xref: EFO:0005411 {source="MONDO:equivalentTo"}
xref: ICD10:F25 {source="DOID:5418"}
xref: ICD10:F25.9 {source="DOID:5418"}
xref: ICD9:295.7 {source="EFO:0005411", source="DOID:5418"}
xref: NCIT:C94378 {source="EFO:0005411", source="MONDO:equivalentTo", source="DOID:5418", source="MONDO:kboom-pr-0.93/0.86/0.12"}
is_a: MONDO:0005485 {source="DOID:5418", source="MONDO:cjm"} ! psychotic disorder
property_value: closeMatch http://identifiers.org/mesh/D011618
property_value: closeMatch http://identifiers.org/snomedct/191567000
property_value: closeMatch http://identifiers.org/snomedct/191568005
property_value: closeMatch http://identifiers.org/snomedct/191575006
property_value: closeMatch http://identifiers.org/snomedct/192345003
property_value: closeMatch http://identifiers.org/snomedct/231490005
property_value: closeMatch http://identifiers.org/snomedct/68890003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036337
property_value: exactMatch DOID:5418
property_value: exactMatch NCIT:C94378

[Term]
id: MONDO:0005488
name: adolescent idiopathic scoliosis
def: "A scoliosis with no known cause arising in adolescent." [EFO:0005423]
xref: EFO:0005423 {source="MONDO:equivalentTo"}
xref: SCTID:203646004 {source="EFO:0005423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.17"}
is_a: MONDO:0000726 {source="MONDO:pnr", source="https://github.com/monarch-initiative/mondo/issues/484"} ! idiopathic scoliosis
property_value: exactMatch http://identifiers.org/snomedct/203646004

[Term]
id: MONDO:0005489
name: dyslexia (disease)
def: "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." [NCIT:P378]
synonym: "dyslexia" EXACT [MONDO:ambiguous]
xref: COHD:442335 {source="MONDO:equivalentTo"}
xref: DOID:4428 {source="EFO:0005424", source="MONDO:equivalentTo"}
xref: EFO:0005424 {source="MONDO:equivalentTo"}
xref: HP:0010522 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F81.0 {source="DOID:4428"}
xref: NCIT:C96410 {source="EFO:0005424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4428"}
is_a: MONDO:0001697 {source="DOID:4428"} ! reading disorder
property_value: closeMatch http://identifiers.org/mesh/D004410
property_value: closeMatch http://identifiers.org/snomedct/154954003
property_value: closeMatch http://identifiers.org/snomedct/158318003
property_value: closeMatch http://identifiers.org/snomedct/192137002
property_value: closeMatch http://identifiers.org/snomedct/206987006
property_value: closeMatch http://identifiers.org/snomedct/268788005
property_value: closeMatch http://identifiers.org/snomedct/59770006
property_value: closeMatch http://identifiers.org/snomedct/9236007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0476254
property_value: exactMatch DOID:4428
property_value: exactMatch NCIT:C96410

[Term]
id: MONDO:0005490
name: large artery stroke
def: "stroke caused by the blockage of blood flow in one of the large arteries feeding the brain" [EFO:0005524]
comment: Editor note: check this
xref: EFO:0005524 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0005098 {source="EFO:0005524", source="MONDOLEX:0005490"} ! stroke disorder

[Term]
id: MONDO:0005491
name: Chagas cardiomyopathy
def: "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." [MESH:D002598]
synonym: "Trypanosoma cruzi cardiomyopathy" EXACT []
synonym: "Trypanosoma cruzi caused cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: EFO:0005529 {source="MONDO:equivalentTo"}
xref: ICD9:086.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002598 {source="MONDO:equivalentTo", source="EFO:0005529", source="MONDO:ontobio"}
xref: SCTID:998008 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="EFO:0005529", source="MESH:D002598", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: disease_arises_from_feature MONDO:0001444 ! Chagas disease
relationship: disease_arises_from_feature MONDO:0001444 ! Chagas disease
property_value: exactMatch http://identifiers.org/mesh/D002598
property_value: exactMatch http://identifiers.org/snomedct/998008

[Term]
id: MONDO:0005492
name: urticaria (disease)
def: "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." [MESH:D014581]
synonym: "hives" EXACT [MESH:D014581, NCIT:C3432]
synonym: "urticaria" EXACT [NCIT:C3432]
synonym: "Urticarias" RELATED [MESH:D014581]
xref: COHD:139900 {source="MONDO:equivalentTo"}
xref: DOID:1555 {source="EFO:0005531", source="MONDO:equivalentTo"}
xref: EFO:0005531 {source="MONDO:equivalentTo"}
xref: HP:0001025 {source="MONDO:otherHierarchy"}
xref: ICD10:L50 {source="MONDO:equivalentTo"}
xref: ICD9:708 {source="EFO:0005531"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="DOID:1555", source="i2s"}
xref: ICD9:708.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014581 {source="EFO:0005531", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3432 {source="EFO:0005531", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:126485001 {source="EFO:0005531", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0042109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3432"}
is_a: MONDO:0002406 {source="NCIT:C3432"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/201267004
property_value: closeMatch http://identifiers.org/snomedct/201271001
property_value: closeMatch http://identifiers.org/snomedct/267817001
property_value: closeMatch http://identifiers.org/snomedct/64305001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029839
property_value: exactMatch DOID:1555
property_value: exactMatch http://identifiers.org/mesh/D014581
property_value: exactMatch http://identifiers.org/snomedct/126485001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042109
property_value: exactMatch NCIT:C3432

[Term]
id: MONDO:0005493
name: delayed encephalopathy after acute carbon monoxide poisoning
def: "anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" [EFO:0005534]
xref: EFO:0005534 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0029001 ! chemically-induced disorder

[Term]
id: MONDO:0005494
name: triple-negative breast carcinoma
def: "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." [NCIT:P378]
synonym: "triple-negative breast cancer" EXACT [NCIT:C71732]
synonym: "triple-negative breast carcinoma" EXACT [NCIT:C71732]
synonym: "triple-receptor negative breast cancer" EXACT [MONDO:0000619]
xref: DOID:0060081 {source="MONDO:equivalentTo"}
xref: EFO:0005537 {source="MONDO:equivalentTo"}
xref: MESH:D064726 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C71732 {source="MONDO:equivalentTo"}
xref: SCTID:706970001 {source="EFO:0005537", source="MONDO:equivalentTo"}
xref: UMLS:C3539878 {source="NCIT:C71732", source="MONDO:equivalentTo"}
is_a: MONDO:0000616 ! progesterone-receptor negative breast cancer
is_a: MONDO:0000618 ! Her2-receptor negative breast cancer
is_a: MONDO:0006513 ! estrogen-receptor negative breast cancer
property_value: exactMatch DOID:0060081
property_value: exactMatch http://identifiers.org/mesh/D064726
property_value: exactMatch http://identifiers.org/snomedct/706970001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539878
property_value: exactMatch NCIT:C71732

[Term]
id: MONDO:0005495
name: adrenal gland disease
def: "A disease involving the adrenal gland." [MONDO:DesignPattern]
synonym: "adrenal gland disease" EXACT [MONDO:patterns/location, NCIT:C26690]
synonym: "adrenal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "adrenal gland diseases" EXACT [NCIT:C26690]
synonym: "adrenal gland disorder" EXACT [NCIT:C26690]
synonym: "adrenal gland disorders" EXACT [NCIT:C26690]
synonym: "disease of adrenal gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adrenal gland" EXACT []
synonym: "disorder of adrenal gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of adrenal gland" RELATED [MONDO:patterns/location_top]
xref: COHD:193165 {source="MONDO:equivalentTo"}
xref: DOID:9553 {source="MONDO:equivalentTo", source="EFO:0005539"}
xref: EFO:0005539 {source="MONDO:equivalentTo"}
xref: ICD10:E27.9 {source="DOID:9553"}
xref: ICD9:255 {source="DOID:9553"}
xref: ICD9:255.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:255.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:9553"}
xref: MESH:D000307 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9553"}
xref: NCIT:C26690 {source="MONDO:equivalentTo", source="DOID:9553", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:30171000 {source="MONDO:equivalentTo", source="DOID:9553"}
is_a: MONDO:0005151 {source="DOID:9553", source="EFO:0005539", source="MESH:D000307", source="MONDO:Redundant", source="linkedlifedata"} ! endocrine system disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://identifiers.org/snomedct/154704000
property_value: closeMatch http://identifiers.org/snomedct/190532009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001621
property_value: exactMatch DOID:9553
property_value: exactMatch http://identifiers.org/mesh/D000307
property_value: exactMatch http://identifiers.org/snomedct/30171000
property_value: exactMatch NCIT:C26690

[Term]
id: MONDO:0005496
name: bile duct carcinoma
def: "A carcinoma that arises from epithelial cells of the bile duct" [MONDO:DesignPattern]
synonym: "bile duct cancer" BROAD [NCIT:C27814]
synonym: "bile duct cancer (including cholangiocarcinoma)" EXACT [NCIT:C27814]
synonym: "bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C27814]
synonym: "carcinoma of bile duct" EXACT [MONDO:patterns/carcinoma]
xref: DOID:4897 {source="MONDO:equivalentTo", source="EFO:0005540"}
xref: EFO:0005540 {source="MONDO:equivalentTo"}
xref: NCIT:C27814 {source="DOID:4897", source="MONDO:equivalentTo", source="EFO:0005540"}
xref: UMLS:C0740277 {source="MEDGEN:kboom-pr98-c99", source="DOID:4897", source="MONDO:equivalentTo", source="NCIT:C27814"}
is_a: MONDO:0003059 {source="DOID:4897", source="MONDO:Redundant", source="MONDOLEX:0005496"} ! bile duct cancer
is_a: MONDO:0018531 ! carcinoma of liver and intrahepatic biliary tract
property_value: closeMatch http://identifiers.org/snomedct/70179006
property_value: exactMatch DOID:4897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740277
property_value: exactMatch NCIT:C27814

[Term]
id: MONDO:0005497
name: bone development disease
def: "A disease involving the bone development." [MONDO:patterns/location_top]
synonym: "bone development disease" EXACT [MONDO:patterns/location]
synonym: "bone development disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bone development" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone development" EXACT []
synonym: "disorder of bone development" EXACT [MONDO:patterns/location_top]
synonym: "disorder of bone development" RELATED [MONDO:patterns/location_top]
xref: DOID:0080006 {source="EFO:0005541", source="MONDO:equivalentTo"}
xref: EFO:0005541 {source="MONDO:equivalentTo"}
xref: SCTID:371521007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="DOID:0080006", source="EFO:0005541", source="linkedlifedata"} ! bone disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch DOID:0080006
property_value: exactMatch http://identifiers.org/snomedct/371521007

[Term]
id: MONDO:0005498
name: botulism
def: "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." [NCIT:C84599]
subset: gard_rare {source="GARD:0000943"}
subset: ordo_disease {source="Orphanet:1267"}
synonym: "botulism" EXACT [NCIT:C84599]
synonym: "botulism poisoning" EXACT [DOID:11976]
synonym: "food poisoning due to Clostridium botulinum" NARROW [DOID:11976, MTHICD9_2006:005.1]
synonym: "foodborne botulism" NARROW [DOID:11976]
synonym: "foodborne botulism (subtype)" RELATED [GARD:0000943]
synonym: "infant botulism (subtype)" RELATED [GARD:0000943]
synonym: "infection due to Clostridium botulinum" EXACT [DOID:11976]
synonym: "intoxication with Clostridium botulinum toxin" NARROW [DOID:11976]
synonym: "wound botulism (subtype)" NARROW [GARD:0000943]
xref: CSP:5000-0060 {source="DOID:11976"}
xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"}
xref: EFO:0005542 {source="MONDO:equivalentTo"}
xref: GARD:0000943 {source="MONDO:equivalentTo"}
xref: ICD10:A05.1 {source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267"}
xref: MedDRA:10006041 {source="ORDO:1267/e", source="Orphanet:1267"}
xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267", source="MONDO:equivalentTo"}
xref: NCIT:C84599 {source="EFO:0005542", source="MONDO:kboom-pr-0.96/0.70/2.55", source="DOID:11976", source="MONDO:equivalentTo"}
xref: Orphanet:1267 {source="MONDO:equivalentTo"}
xref: SCTID:398565003 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.82/0.43/1.07"}
xref: UMLS:C0006057 {source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267", source="MONDO:equivalentTo", source="NCIT:C84599"}
is_a: MONDO:0000314 {source="DOID:11976"} ! primary bacterial infectious disease
is_a: MONDO:0020010 ! infectious disease of the nervous system
is_a: MONDO:0020125 {source="Orphanet:1267"} ! acquired neuromuscular junction disease
is_a: MONDO:0024388 ! Clostridium infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154276003
property_value: closeMatch http://identifiers.org/snomedct/186110004
property_value: closeMatch http://identifiers.org/snomedct/266177004
property_value: closeMatch http://identifiers.org/snomedct/414531002
property_value: closeMatch http://identifiers.org/snomedct/49248004
property_value: exactMatch DOID:11976
property_value: exactMatch http://identifiers.org/meddra/10006041
property_value: exactMatch http://identifiers.org/mesh/D001906
property_value: exactMatch http://identifiers.org/snomedct/398565003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006057
property_value: exactMatch NCIT:C84599
property_value: exactMatch Orphanet:1267
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/943/botulism xsd:anyURI {source="GARD:0000943"}

[Term]
id: MONDO:0005499
name: brain glioma
def: "A malignant glioma that involves the brain." [MONDO:patterns/location]
synonym: "brain malignant glioma" EXACT [MONDO:patterns/location]
synonym: "malignant glioma of brain" EXACT [MONDO:design_pattern]
xref: DOID:0060108 {source="EFO:0005543", source="MONDO:equivalentTo"}
xref: EFO:0005543 {source="MONDO:equivalentTo"}
xref: SCTID:254937005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C0349661 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001657 {source="DOID:0060108", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain cancer
is_a: MONDO:0015917 {source="DOID:0060108", source="MONDO:Redundant", source="MONDOLEX:0005499"} ! malignant glioma
property_value: exactMatch DOID:0060108
property_value: exactMatch http://identifiers.org/snomedct/254937005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349661

[Term]
id: MONDO:0005500
name: congenital disorder of glycosylation type I
def: "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." [DOID:0050570, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
synonym: "ALG1-CDG" RELATED [DOID:0050570]
synonym: "ALG1-CDG (CDG-1k)" RELATED [DOID:0050570]
synonym: "ALG11-CDG" RELATED [DOID:0050570]
synonym: "ALG11-CDG (CDG-1p)" RELATED [DOID:0050570]
synonym: "ALG12-CDG" RELATED [DOID:0050570]
synonym: "ALG12-CDG (CDG-1g)" RELATED [DOID:0050570]
synonym: "ALG2-CDG" RELATED [DOID:0050570]
synonym: "ALG2-CDG (CDG-1i)" RELATED [DOID:0050570]
synonym: "ALG3-CDG" RELATED [DOID:0050570]
synonym: "ALG3-CDG (CDG-1d)" RELATED [DOID:0050570]
synonym: "ALG6-CDG" RELATED [DOID:0050570]
synonym: "ALG6-CDG (CDG-1c)" RELATED [DOID:0050570]
synonym: "ALG8-CDG" RELATED [DOID:0050570]
synonym: "ALG8-CDG (CDG-1h)" RELATED [DOID:0050570]
synonym: "ALG9-CDG" RELATED [DOID:0050570]
synonym: "ALG9-CDG (CDG-1l)" RELATED [DOID:0050570]
synonym: "congenital disorders of glycosylation, type I" EXACT [OMIMPS:212065]
synonym: "DOLK-CDG" RELATED [DOID:0050570]
synonym: "DOLK-CDG (CDG-1m)" RELATED [DOID:0050570]
synonym: "DPAGT1-CDG" RELATED [DOID:0050570]
synonym: "DPAGT1-CDG (CDG-1j)" RELATED [DOID:0050570]
synonym: "DPM1-CDG" RELATED [DOID:0050570]
synonym: "DPM1-CDG (CDG-1e)" RELATED [DOID:0050570]
synonym: "DPM2-CDG" RELATED [DOID:0050570]
synonym: "DPM2-CDG (CDG-1u)" RELATED [DOID:0050570]
synonym: "DPM3-CDG" RELATED [DOID:0050570]
synonym: "DPM3-CDG (CDG-1o)" RELATED [DOID:0050570]
synonym: "MPDU1-CDG" RELATED [DOID:0050570]
synonym: "MPDU1-CDG (CDG-1f)" RELATED [DOID:0050570]
synonym: "MPI-CDG" RELATED [DOID:0050570]
synonym: "MPI-CDG (CDG-1b)" RELATED [DOID:0050570]
synonym: "PMM2-CDG" RELATED [DOID:0050570]
synonym: "PMM2-CDG (CDG-1a)" RELATED [DOID:0050570]
synonym: "RFT1-CDG" RELATED [DOID:0050570]
synonym: "RFT1-CDG (CDG-1n)" RELATED [DOID:0050570]
synonym: "SRD5A3-CDG" RELATED [DOID:0050570]
synonym: "SRD5A3-CDG (CDG-1q)" RELATED [DOID:0050570]
xref: DOID:0050570 {source="EFO:0005545", source="MONDO:equivalentTo"}
xref: EFO:0005545 {source="MONDO:equivalentTo"}
xref: OMIMPS:212065 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="DOID:0050570", source="MONDOLEX:0005500"} ! congenital disorder of glycosylation
property_value: exactMatch DOID:0050570

[Term]
id: MONDO:0005501
name: congenital disorder of glycosylation type II
def: "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." [DOID:0050571, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
synonym: "B4GALT1-CDG" RELATED [DOID:0050571]
synonym: "B4GALT1-CDG (CDG-2d)" RELATED [DOID:0050571]
synonym: "congenital disorders of glycosylation, type II" EXACT [OMIMPS:212066]
synonym: "MGAT2-CDG" RELATED [DOID:0050571]
synonym: "MGAT2-CDG (CDG-2a)" RELATED [DOID:0050571]
synonym: "MOGS-CDG" RELATED [DOID:0050571]
synonym: "MOGS-CDG (CDG-2b)" RELATED [DOID:0050571]
xref: DOID:0050571 {source="EFO:0005546", source="MONDO:equivalentTo"}
xref: EFO:0005546 {source="MONDO:equivalentTo"}
xref: MESH:C535747 {source="EFO:0005546", source="MONDO:equivalentTo"}
xref: OMIMPS:212066 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="DOID:0050571", source="MESH:C535747", source="MONDOLEX:0005501"} ! congenital disorder of glycosylation
property_value: exactMatch DOID:0050571
property_value: exactMatch http://identifiers.org/mesh/C535747

[Term]
id: MONDO:0005502
name: dengue disease
def: "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." [Orphanet:99828]
subset: ordo_disease {source="Orphanet:99828"}
synonym: "break bone fever" EXACT [NCIT:C34528]
synonym: "breakbone fever" EXACT [CSP2005:3100-2165, DOID:12205]
synonym: "classic dengue" EXACT [DOID:12205]
synonym: "classical dengue" RELATED [DOID:12205]
synonym: "Dengue" EXACT [NCIT:C34528]
synonym: "Dengue fever" EXACT [DOID:12205, NCIT:C34528]
synonym: "Dengue virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dengue virus disease or disorder" EXACT []
synonym: "Dengue virus infection" EXACT [Orphanet:99828]
synonym: "Dengue virus infectious disease" EXACT []
synonym: "DF" EXACT [Orphanet:99828]
synonym: "hemorrhagic dengue" RELATED [GARD:0006254]
synonym: "Philippine hemorrhagic fever" RELATED [GARD:0006254]
synonym: "Singapore hemorrhagic fever" RELATED [GARD:0006254]
synonym: "Thai hemorrhagic fever" RELATED [GARD:0006254]
xref: DOID:12205 {source="MONDO:equivalentTo", source="EFO:0005547"}
xref: EFO:0005547 {source="MONDO:equivalentTo"}
xref: GARD:0006254 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A90 {source="DOID:12205"}
xref: ICD10:A97.0 {source="ORDO:99828/btnt", source="Orphanet:99828"}
xref: ICD10:A97.1 {source="ORDO:99828/btnt", source="Orphanet:99828"}
xref: ICD10:A97.2 {source="ORDO:99828/btnt", source="Orphanet:99828"}
xref: ICD10:A97.9 {source="ORDO:99828/btnt", source="Orphanet:99828"}
xref: ICD9:061 {source="DOID:12205", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10012310 {source="ORDO:99828/e", source="Orphanet:99828"}
xref: MESH:D003715 {source="DOID:12205", source="MONDO:equivalentTo", source="ORDO:99828/e", source="MONDO:ontobio", source="Orphanet:99828"}
xref: NCIT:C34528 {source="DOID:12205", source="MONDO:equivalentTo", source="EFO:0005547", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:99828 {source="MONDO:equivalentTo"}
xref: SCTID:38362002 {source="DOID:12205", source="MONDO:kboom-pr-1.00/0.76/8.40", source="MONDO:equivalentTo"}
xref: UMLS:C0011311 {source="DOID:12205", source="NCIT:C34528", source="MONDO:equivalentTo", source="ORDO:99828/e", source="Orphanet:99828"}
is_a: MONDO:0005763 {source="MESH:D003715/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! Flaviviridae infectious disease
is_a: MONDO:0018093 {source="Orphanet:99828"} ! arbovirus fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/154345006
property_value: closeMatch http://identifiers.org/snomedct/266194002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019100
property_value: exactMatch DOID:12205
property_value: exactMatch http://identifiers.org/meddra/10012310
property_value: exactMatch http://identifiers.org/mesh/D003715
property_value: exactMatch http://identifiers.org/snomedct/38362002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011311
property_value: exactMatch NCIT:C34528
property_value: exactMatch Orphanet:99828

[Term]
id: MONDO:0005503
name: developmental disorder of mental health
def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [EFO:0005548]
synonym: "developmental mental disorder" RELATED []
xref: DOID:0060037 {source="EFO:0005548", source="MONDO:equivalentTo"}
xref: EFO:0005548 {source="MONDO:equivalentTo"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:129104009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005084 {source="EFO:0005548", source="MONDOLEX:0005503", source="linkedlifedata", source="linkedlifedata/inferred"} ! mental disorder
property_value: exactMatch DOID:0060037
property_value: exactMatch http://identifiers.org/snomedct/129104009

[Term]
id: MONDO:0005504
name: diphtheria
def: "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." [NCIT:P378]
subset: gard_rare {source="GARD:0001875"}
subset: ordo_disease {source="Orphanet:1679"}
synonym: "Corynebacterium infection" EXACT [DOID:11405]
xref: COHD:434568 {source="MONDO:equivalentTo"}
xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: EFO:0005549 {source="MONDO:equivalentTo"}
xref: GARD:0001875 {source="MONDO:equivalentTo"}
xref: ICD10:A36 {source="MONDO:equivalentTo"}
xref: ICD10:A36.0 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.1 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.2 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.3 {source="ORDO:1679/btnt", source="MONDO:relatedTo", source="Orphanet:1679"}
xref: ICD10:A36.8 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.9 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD9:032 {source="EFO:0005549"}
xref: ICD9:032.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10013023 {source="Orphanet:1679", source="ORDO:1679/e"}
xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="ORDO:1679/e"}
xref: NCIT:C34541 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0005549"}
xref: Orphanet:1679 {source="MONDO:equivalentTo"}
xref: SCTID:397428000 {source="MONDO:equivalentTo", source="EFO:0005549", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0012546 {source="MONDO:equivalentTo", source="NCIT:C34541", source="Orphanet:1679", source="ORDO:1679/e"}
is_a: MONDO:0000314 {source="DOID:11405"} ! primary bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D003354
property_value: closeMatch http://identifiers.org/snomedct/397434007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010153
property_value: exactMatch DOID:11405
property_value: exactMatch http://identifiers.org/meddra/10013023
property_value: exactMatch http://identifiers.org/mesh/D004165
property_value: exactMatch http://identifiers.org/snomedct/397428000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012546
property_value: exactMatch NCIT:C34541
property_value: exactMatch Orphanet:1679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1875/diphtheria xsd:anyURI {source="GARD:0001875"}

[Term]
id: MONDO:0005505
name: dysembryoplastic neuroepithelial tumor
def: "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" [EFO:0005551]
subset: gard_rare {source="GARD:0010640"}
subset: ordo_disease {source="Orphanet:251946"}
synonym: "DNET" EXACT [Orphanet:251946]
synonym: "DNT" EXACT [NCIT:C9505, ONCOTREE:DNT]
synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [DOID:2679, NCIT:C9505]
synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [DOID:2679]
xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"}
xref: EFO:0005551 {source="MONDO:equivalentTo"}
xref: GARD:0010640 {source="MONDO:equivalentTo"}
xref: ICDO:9413/0 {source="NCIT:C9505"}
xref: NCIT:C9505 {source="MONDO:equivalentTo", source="DOID:2679", source="exact-label-match", source="EFO:0005551"}
xref: ONCOTREE:DNT {source="MONDO:equivalentTo"}
xref: Orphanet:251946 {source="MONDO:equivalentTo"}
xref: SCTID:87211000119104 {source="MONDO:equivalentTo", source="DOID:2679", source="MONDO:kboom-pr-1.00/0.84/13.80"}
xref: UMLS:C1266177 {source="MONDO:equivalentTo", source="DOID:2679", source="NCIT:C9505", source="Orphanet:251946", source="ORDO:251946/e"}
is_a: MONDO:0016729 {source="NCIT:C9505", source="Orphanet:251946"} ! mixed neuronal-glial tumor
is_a: MONDO:0021211 ! brain neoplasm
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
property_value: closeMatch http://identifiers.org/snomedct/128788005
property_value: exactMatch DOID:2679
property_value: exactMatch http://identifiers.org/snomedct/87211000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266177
property_value: exactMatch NCIT:C9505
property_value: exactMatch Orphanet:251946
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor xsd:anyURI {source="GARD:0010640"}

[Term]
id: MONDO:0005506
name: eccrine sweat gland cancer
def: "An cancer with eccrine differentiation arising from the sweat glands.B" [EFO:0005553]
synonym: "cancer of eccrine sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "eccrine sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "malignant eccrine neoplasm" EXACT [NCIT:C5559]
synonym: "malignant eccrine neoplasm of skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine neoplasm of the skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine skin neoplasm" EXACT [DOID:4921, NCIT:C5559]
synonym: "malignant eccrine skin tumor" EXACT [NCIT:C5559]
synonym: "malignant eccrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant eccrine tumor" EXACT [DOID:4921, NCIT:C5559]
synonym: "malignant eccrine tumor of skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine tumor of the skin" EXACT [NCIT:C5559]
synonym: "malignant neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/cancer]
xref: DOID:4921 {source="EFO:0005553", source="MONDO:equivalentTo"}
xref: EFO:0005553 {source="MONDO:equivalentTo"}
xref: NCIT:C5559 {source="DOID:4921", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334577 {source="DOID:4921", source="MONDO:equivalentTo", source="NCIT:C5559"}
is_a: MONDO:0002090 {source="MONDO:Redundant", source="MONDOLEX:0005506", source="NCIT:C5559", source="OWLReasoner:2017"} ! eccrine sweat gland neoplasm
is_a: MONDO:0002206 {source="DOID:4921", source="MONDO:Redundant", source="MONDOLEX:0005506", source="NCIT:C5559"} ! sweat gland cancer
property_value: exactMatch DOID:4921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334577
property_value: exactMatch NCIT:C5559

[Term]
id: MONDO:0005507
name: gingival cancer
def: "A primary or metastatic malignant neoplasm that affects the gums." [NCIT:C9317]
synonym: "cancer of gingiva" EXACT [MONDO:patterns/cancer]
synonym: "gingiva cancer" EXACT [MONDO:patterns/location]
synonym: "gum cancer" RELATED [DOID:8602]
synonym: "malignant gingiva neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant gingival neoplasm" EXACT [NCIT:C9317]
synonym: "malignant gingival tumor" EXACT [DOID:8602, NCIT:C9317]
synonym: "malignant gum neoplasm" EXACT [NCIT:C9317]
synonym: "malignant gum tumor" EXACT [NCIT:C9317]
synonym: "malignant neoplasm of gingiva" EXACT [MONDO:patterns/cancer, NCIT:C9317]
synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM_2006:143, NCIT:C9317]
synonym: "malignant neoplasm of other sites of gum" EXACT [DOID:8602]
synonym: "malignant neoplasm of the gingiva" EXACT [NCIT:C9317]
synonym: "malignant neoplasm of the gum" EXACT [NCIT:C9317]
synonym: "malignant tumor of gingiva" EXACT [NCIT:C9317]
synonym: "malignant tumor of gum" EXACT [NCIT:C9317]
synonym: "malignant tumor of the gingiva" EXACT [NCIT:C9317]
synonym: "malignant tumor of the gum" EXACT [NCIT:C9317]
synonym: "malignant tumour of gingiva" EXACT [DOID:8602]
xref: DOID:8602 {source="EFO:0005557", source="MONDO:equivalentTo"}
xref: EFO:0005557 {source="MONDO:equivalentTo"}
xref: ICD10:C03 {source="DOID:8602"}
xref: ICD10:C03.9 {source="DOID:8602"}
xref: ICD9:143 {source="DOID:8602", source="EFO:0005557"}
xref: ICD9:143.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:143.9 {source="DOID:8602", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10067807 {source="EFO:0005557"}
xref: NCIT:C9317 {source="DOID:8602", source="EFO:0005557", source="MONDO:equivalentTo"}
xref: SCTID:363382005 {source="DOID:8602", source="MONDO:kboom-pr-1.00/0.91/26.59", source="MONDO:equivalentTo"}
xref: UMLS:C0153364 {source="DOID:8602", source="MONDO:equivalentTo", source="NCIT:C9317"}
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0005515 {source="DOID:8602", source="NCIT:C9317"} ! oral cavity cancer
is_a: MONDO:0021086 {source="MONDO:Redundant", source="NCIT:C9317", source="OWLReasoner:2017"} ! gingival neoplasm
property_value: closeMatch http://identifiers.org/meddra/10067807
property_value: closeMatch http://identifiers.org/snomedct/187651005
property_value: closeMatch http://identifiers.org/snomedct/93819009
property_value: exactMatch DOID:8602
property_value: exactMatch http://identifiers.org/snomedct/363382005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153364
property_value: exactMatch NCIT:C9317

[Term]
id: MONDO:0005508
name: hereditary multiple osteochondromas
def: "Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." [Orphanet:321]
subset: gard_rare
subset: ordo_disease {source="Orphanet:321"}
synonym: "Bessel-Hagen disease" EXACT [Orphanet:321]
synonym: "exostoses, multiple" EXACT [DC:0000143]
synonym: "EXT" RELATED []
synonym: "hereditary multiple exostoses" RELATED [GARD:0007035]
synonym: "hereditary multiple exostoses 1" NARROW [DOID:206]
synonym: "hereditary multiple exostoses 2" NARROW [DOID:206]
synonym: "hereditary multiple exostoses 3" NARROW [DOID:206]
synonym: "hereditary multiple exostosis" RELATED [GARD:0007035]
synonym: "HMO" RELATED [GARD:0007035]
synonym: "multiple cartilaginous exostoses" EXACT [Orphanet:321]
synonym: "multiple congenital exostosis" EXACT [DOID:206]
synonym: "multiple exostoses" RELATED [GARD:0007035]
synonym: "multiple exostosis syndromes" EXACT [DOID:206]
synonym: "multiple ostechondromas" EXACT [DOID:206]
synonym: "osteochondromatosis syndrome" EXACT [DOID:206]
synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206]
xref: DC:0000143 {source="MONDO:equivalentTo"}
xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"}
xref: EFO:0005560 {source="MONDO:equivalentTo"}
xref: GARD:0007035 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.6 {source="DOID:206", source="ORDO:321/e", source="ORDO:321/specific", source="Orphanet:321"}
xref: MESH:D005097 {source="DOID:206", source="MONDO:equivalentTo"}
xref: NCIT:C5183 {source="DOID:206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0005560"}
xref: Orphanet:321 {source="DOID:206", source="MONDO:equivalentTo", source="GARD:0007035"}
xref: SCTID:254044004 {source="DOID:206", source="MONDO:kboom-pr-0.89/0.78/0.05", source="MONDO:equivalentTo", source="EFO:0005560"}
xref: SCTID:716742001 {source="MONDO:equivalentTo"}
xref: UMLS:CN204014 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002181 {source="DOID:206", source="NCIT:C5183"} ! exostosis
is_a: MONDO:0015356 {source="MESH:D005097", source="NCIT:C5183"} ! hereditary neoplastic syndrome
is_a: MONDO:0017742 {source="Orphanet:321"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018292 {source="Orphanet:321"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019060 {source="Orphanet:321", source="indirect"} ! bone neoplasm
is_a: MONDO:0019708 {source="Orphanet:321"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: closeMatch http://identifiers.org/snomedct/16535008
property_value: closeMatch http://identifiers.org/snomedct/205479007
property_value: closeMatch http://identifiers.org/snomedct/240186007
property_value: closeMatch http://identifiers.org/snomedct/84852005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015306
property_value: exactMatch DOID:206
property_value: exactMatch http://identifiers.org/mesh/D005097
property_value: exactMatch http://identifiers.org/snomedct/254044004
property_value: exactMatch http://identifiers.org/snomedct/716742001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204014
property_value: exactMatch NCIT:C5183
property_value: exactMatch Orphanet:321
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas xsd:anyURI {source="GARD:0007035"}

[Term]
id: MONDO:0005509
name: histiocytoma
def: "A mesenchymal tumor composed of fibroblastic and histiocytic cells." [NCIT:C35765]
synonym: "histiocytoma" EXACT [NCIT:C35765]
xref: DOID:4231 {source="MONDO:equivalentTo", source="EFO:0005561"}
xref: EFO:0005561 {source="MONDO:equivalentTo"}
xref: ICDO:8831/0 {source="NCIT:C35765"}
xref: MESH:D051642 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4231", source="EFO:0005561"}
xref: NCIT:C35765 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4231", source="EFO:0005561"}
xref: SCTID_2010_1_31:128741006 {source="EFO:0005561"}
xref: SCTID_2010_1_31:154614002 {source="EFO:0005561"}
xref: SCTID_2010_1_31:189773000 {source="EFO:0005561"}
xref: SCTID_2010_1_31:302843004 {source="EFO:0005561"}
xref: SCTID_2010_1_31:72079004 {source="EFO:0005561"}
xref: UMLS:C1509147 {source="MONDO:equivalentTo", source="NCIT:C35765", source="DOID:4231", source="EFO:0005561"}
is_a: MONDO:0005070 {source="DOID:4231/inferred", source="EFO:0005561/inferred", source="MESH:D051642/inferred", source="NCIT:C35765/inferred"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/128741006
property_value: closeMatch http://identifiers.org/snomedct/154614002
property_value: closeMatch http://identifiers.org/snomedct/189773000
property_value: closeMatch http://identifiers.org/snomedct/302843004
property_value: closeMatch http://identifiers.org/snomedct/72079004
property_value: exactMatch DOID:4231
property_value: exactMatch http://identifiers.org/mesh/D051642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509147
property_value: exactMatch NCIT:C35765

[Term]
id: MONDO:0005510
name: hydronephrosis
def: "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." [EFO:0005562]
xref: COHD:433811 {source="MONDO:equivalentTo"}
xref: DOID:11111 {source="MONDO:equivalentTo", source="EFO:0005562"}
xref: EFO:0005562 {source="MONDO:equivalentTo"}
xref: ICD10:N13.30 {source="DOID:11111"}
xref: ICD9:591 {source="MONDO:equivalentTo", source="i2s", source="DOID:11111", source="EFO:0005562"}
xref: MESH:D006869 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11111", source="EFO:0005562"}
xref: NCIT:C26796 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:11111", source="EFO:0005562"}
xref: SCTID:43064006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11111", source="EFO:0005562"}
xref: UMLS:C0020295 {source="MONDO:equivalentTo", source="NCIT:C26796", source="DOID:11111"}
is_a: MONDO:0003330 {source="DOID:11111", source="NCIT:C26796", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary tract obstruction
is_a: MONDO:0005240 {source="EFO:0005562", source="MESH:D006869", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
property_value: closeMatch http://identifiers.org/snomedct/155866001
property_value: closeMatch http://identifiers.org/snomedct/197791000
property_value: exactMatch DOID:11111
property_value: exactMatch http://identifiers.org/mesh/D006869
property_value: exactMatch http://identifiers.org/snomedct/43064006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020295
property_value: exactMatch NCIT:C26796

[Term]
id: MONDO:0005511
name: janus kinase-3 deficiency
def: "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." [EFO:0005565]
xref: DOID:0060008 {source="EFO:0005565", source="MONDO:equivalentTo"}
xref: EFO:0005565 {source="MONDO:equivalentTo"}
xref: Wikipedia:Janus_kinase_3_deficiency {source="EFO:0005565"}
is_a: MONDO:0015974 {source="DOID:0060008"} ! severe combined immunodeficiency (disease)
property_value: exactMatch DOID:0060008

[Term]
id: MONDO:0005512
name: malignant peritoneal mesothelioma
def: "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." [EFO:0005567]
subset: ordo_disease {source="Orphanet:168811"}
synonym: "advanced malignant mesothelioma of peritoneum" EXACT [DOID:1788, NCIT:C8704]
synonym: "advanced malignant mesothelioma of the peritoneum" EXACT [NCIT:C8704]
synonym: "advanced malignant peritoneal mesothelioma" EXACT [DOID:1788]
synonym: "advanced peritoneal malignant mesothelioma" EXACT [NCIT:C8704]
synonym: "diffuse malignant peritoneal mesothelioma" EXACT [Orphanet:168811]
synonym: "malignant mesothelioma (disease) of peritoneum" EXACT []
synonym: "malignant mesothelioma of peritoneum" EXACT [DOID:1788]
synonym: "malignant peritoneal mesothelioma, advanced" EXACT [NCIT:C8704]
synonym: "peritoneal mesothelioma" RELATED [DOID:1788]
synonym: "peritoneal mesothelioma (disease), malignant" EXACT [MONDO:patterns/malignant]
synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811]
xref: DOID:1788 {source="EFO:0005567", source="MONDO:equivalentTo"}
xref: EFO:0005567 {source="MONDO:equivalentTo"}
xref: ICD10:C45.1 {source="Orphanet:168811", source="ORDO:168811/e"}
xref: MedDRA:10056558 {source="Orphanet:168811", source="ORDO:168811/e"}
xref: NCIT:C8704 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: Orphanet:168811 {source="MONDO:equivalentTo"}
is_a: MONDO:0002087 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! peritoneum cancer
is_a: MONDO:0006292 {source="DOID:1788", source="MONDO:Redundant", source="MONDOLEX:0005512", source="NCIT:C8704/inferred"} ! malignant mesothelioma (disease)
is_a: MONDO:0006362 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0005512", source="NCIT:C8704/inferred"} ! peritoneal mesothelioma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854886
property_value: closeMatch NCIT:C9350
property_value: exactMatch DOID:1788
property_value: exactMatch http://identifiers.org/meddra/10056558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346109
property_value: exactMatch NCIT:C8704
property_value: exactMatch Orphanet:168811

[Term]
id: MONDO:0005513
name: obsolete methylmalonic aciduria and homocystinuria type cblE
is_obsolete: true
replaced_by: MONDO:0009354

[Term]
id: MONDO:0005514
name: nanophthalmia
def: "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [Orphanet:35612]
subset: ordo_malformation_syndrome {source="Orphanet:35612"}
xref: Orphanet:35612 {source="MONDO:equivalentTo", source="DOID:10629"}
xref: SCTID:716775009 {source="MONDO:kboom-pr-0.92/0.76/0.95", source="MONDO:equivalentTo"}
is_a: MONDO:0000062 ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:35612"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch http://identifiers.org/snomedct/716775009
property_value: exactMatch Orphanet:35612

[Term]
id: MONDO:0005515
name: oral cavity cancer
def: "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." [NCIT:C9314]
synonym: "cancer of oral cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant mouth neoplasm" EXACT [NCIT:C9314]
synonym: "malignant mouth tumor" EXACT [NCIT:C9314]
synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [DOID:8618]
synonym: "malignant neoplasm of floor of mouth" NARROW [DOID:8618, MTH:NOCODE]
synonym: "malignant neoplasm of lateral floor of mouth" NARROW [DOID:8618, MTH:U001372]
synonym: "malignant neoplasm of lateral portion of floor of mouth" NARROW [DOID:8618]
synonym: "malignant neoplasm of mouth" EXACT [NCIT:C9314]
synonym: "malignant neoplasm of oral cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the mouth" EXACT [NCIT:C9314]
synonym: "malignant oral cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9314]
synonym: "malignant oral cavity tumor" EXACT [NCIT:C9314]
synonym: "malignant tumor of anterior floor of mouth" EXACT [DOID:8618]
synonym: "malignant tumor of lateral floor of mouth" EXACT [DOID:8618]
synonym: "malignant tumor of mouth" EXACT [NCIT:C9314]
synonym: "malignant tumor of oral cavity" EXACT []
synonym: "malignant tumor of the floor of the mouth" NARROW [DOID:8618, NCIT:C9318]
synonym: "malignant tumor of the mouth" EXACT [NCIT:C9314]
synonym: "mouth cancer" RELATED []
synonym: "oral cavity cancer" EXACT [MONDO:patterns/location]
xref: COHD:25189 {source="MONDO:equivalentTo"}
xref: DOID:8618 {source="MONDO:equivalentTo", source="EFO:0005570"}
xref: EFO:0005570 {source="MONDO:equivalentTo"}
xref: ICD10:C04 {source="DOID:8618"}
xref: ICD10:C04.0 {source="DOID:8618"}
xref: ICD10:C04.1 {source="DOID:8618"}
xref: ICD10:C04.9 {source="DOID:8618"}
xref: ICD9:144 {source="DOID:8618", source="EFO:0005570"}
xref: ICD9:144.0 {source="DOID:8618"}
xref: ICD9:144.1 {source="DOID:8618"}
xref: ICD9:144.9 {source="MONDO:relatedTo", source="DOID:8618"}
xref: ICD9:145.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:145.9 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:149.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9314 {source="MONDO:equivalentTo", source="EFO:0005570"}
xref: SCTID:363505006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002516 {source="DOID:8618", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer
is_a: MONDO:0005627 ! head and neck cancer
is_a: MONDO:0021245 {source="MONDO:Redundant", source="NCIT:C9314", source="linkedlifedata"} ! oral cavity neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187652003
property_value: closeMatch http://identifiers.org/snomedct/187653008
property_value: closeMatch http://identifiers.org/snomedct/187656000
property_value: closeMatch http://identifiers.org/snomedct/93672006
property_value: closeMatch http://identifiers.org/snomedct/93802007
property_value: closeMatch http://identifiers.org/snomedct/93860002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153368
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153369
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153381
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496758
property_value: exactMatch DOID:8618
property_value: exactMatch http://identifiers.org/snomedct/363505006
property_value: exactMatch NCIT:C9314

[Term]
id: MONDO:0005516
name: osteochondrodysplasia
def: "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." [NCIT:C84978]
synonym: "cartilage development disorder" NARROW [DOID:2256, NCIT:C34466]
synonym: "chondrodystrophy" EXACT EXCLUDE [DOID:2256]
synonym: "congenital anomaly of cartilage" NARROW [DOID:2256]
synonym: "congenital skeletal dysplasia" EXACT [NCIT:C84978]
synonym: "osteochondrodysplasia" EXACT [NCIT:C84978]
synonym: "osteochondrodysplasia syndrome" EXACT [DOID:2256]
synonym: "skeletal dysplasia" EXACT [NCIT:C84978]
xref: DOID:2256 {source="MONDO:equivalentTo", source="EFO:0005571"}
xref: EFO:0005571 {source="MONDO:equivalentTo"}
xref: GARD:0006051 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q78.9 {source="DOID:2256"}
xref: ICD9:756.4 {source="DOID:2256", source="EFO:0005571"}
xref: MESH:D010009 {source="DOID:2256", source="MONDO:equivalentTo"}
xref: NCIT:C84978 {source="DOID:2256", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="EFO:0005571"}
xref: SCTID:105985007 {source="DOID:2256", source="MONDO:equivalentTo"}
xref: UMLS:C0029422 {source="DOID:2256", source="NCIT:C84978", source="MONDO:equivalentTo"}
is_a: MONDO:0005497 {source="DOID:2256", source="EFO:0005571"} ! bone development disease
property_value: closeMatch http://identifiers.org/snomedct/205510001
property_value: closeMatch http://identifiers.org/snomedct/205539001
property_value: closeMatch http://identifiers.org/snomedct/240190009
property_value: closeMatch http://identifiers.org/snomedct/268350005
property_value: exactMatch DOID:2256
property_value: exactMatch http://identifiers.org/mesh/D010009
property_value: exactMatch http://identifiers.org/snomedct/105985007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029422
property_value: exactMatch NCIT:C84978

[Term]
id: MONDO:0005517
name: pharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the pharynx." [NCIT:C7545]
synonym: "cancer of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "cancer of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "chordate pharynx cancer" EXACT []
synonym: "malignant chordate pharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant pharyngeal neoplasm" EXACT [NCIT:C7545]
synonym: "malignant pharyngeal tumor" EXACT [NCIT:C7545]
synonym: "malignant pharynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7545]
synonym: "malignant pharynx tumor" EXACT [NCIT:C7545]
synonym: "malignant tumor of pharynx" EXACT [NCIT:C7545]
synonym: "malignant tumor of the pharynx" EXACT [NCIT:C7545]
synonym: "pharyngeal cancer" RELATED [DOID:0060119]
synonym: "pharyngeal neoplasm" EXACT [DOID:0060119]
synonym: "pharynx cancer" EXACT [MONDO:patterns/location]
synonym: "pharynx neoplasm" BROAD [DOID:0060119]
xref: DOID:0060119 {source="EFO:0005577", source="MONDO:equivalentTo"}
xref: EFO:0005577 {source="MONDO:equivalentTo"}
xref: MESH:D010610 {source="MONDO:equivalentTo", source="DOID:0060119", source="MONDO:ontobio"}
xref: NCIT:C7545 {source="EFO:0005577", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 ! respiratory system cancer
is_a: MONDO:0002516 {source="DOID:0060119", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C7545"} ! pharynx neoplasm
is_a: MONDO:0021310 {source="NCIT:C7545"} ! malignant tumor of neck
property_value: closeMatch http://identifiers.org/snomedct/126685009
property_value: closeMatch http://identifiers.org/snomedct/363507003
property_value: closeMatch http://identifiers.org/snomedct/95001001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031347
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153405
property_value: exactMatch DOID:0060119
property_value: exactMatch http://identifiers.org/mesh/D010610
property_value: exactMatch NCIT:C7545

[Term]
id: MONDO:0005518
name: pseudohermaphroditism
def: "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." [NCIT:C124575]
synonym: "indeterminate sex and pseudohermaphroditism" RELATED [DOID:3765]
xref: COHD:73584 {source="MONDO:equivalentTo"}
xref: DOID:3765 {source="EFO:0005579", source="MONDO:equivalentTo"}
xref: EFO:0005579 {source="MONDO:equivalentTo"}
xref: ICD10:Q56 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="DOID:3765"}
xref: ICD10:Q56.3 {source="MONDO:equivalentToOther", source="DOID:3765"}
xref: ICD9:752.7 {source="MONDO:subClassOf", source="EFO:0005579", source="DOID:3765"}
xref: NCIT:C124575 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:75164001 {source="EFO:0005579", source="MONDO:equivalentTo", source="DOID:3765"}
xref: Wikipedia:Pseudohermaphroditism {source="EFO:0005579"}
is_a: MONDO:0024665 {source="ICD10:Q56.3", source="linkedlifedata"} ! indeterminate sex and/or pseudohermaphroditism
property_value: closeMatch http://identifiers.org/snomedct/204895009
property_value: closeMatch http://identifiers.org/snomedct/204897001
property_value: closeMatch http://identifiers.org/snomedct/268328009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021193
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033804
property_value: exactMatch DOID:3765
property_value: exactMatch http://identifiers.org/snomedct/75164001
property_value: exactMatch NCIT:C124575

[Term]
id: MONDO:0005519
name: renal pelvis carcinoma
def: "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." [EFO:0005582]
synonym: "cancer of renal pelvis" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of kidney pelvis" EXACT [DOID:4919, NCIT:C6142]
synonym: "carcinoma of renal pelvis" EXACT [MONDO:patterns/carcinoma, NCIT:C6142]
synonym: "carcinoma of the kidney pelvis" EXACT [NCIT:C6142]
synonym: "carcinoma of the renal pelvis" EXACT [NCIT:C6142]
synonym: "kidney pelvis carcinoma" EXACT [NCIT:C6142]
synonym: "kidney renal pelvis cancer" EXACT [NCIT:C6142]
synonym: "malignant neoplasm of renal pelvis" EXACT [DOID:4919, ICD9CM_2006:189.1, MONDO:patterns/cancer]
synonym: "malignant renal pelvis neoplasm" EXACT [DOID:4919, MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant tumor of renal pelvis" EXACT EXCLUDE [DOID:4919]
synonym: "renal pelvis cancer" EXACT [DOID:4919, MONDO:patterns/location]
synonym: "renal pelvis carcinoma" EXACT [NCIT:C6142]
xref: DOID:4919 {source="MONDO:equivalentTo", source="EFO:0005582"}
xref: EFO:0005582 {source="MONDO:equivalentTo"}
xref: ICD10:C65 {source="DOID:4919", source="MONDO:equivalentTo"}
xref: ICD9:189.1 {source="DOID:4919", source="MONDO:equivalentTo", source="i2s", source="EFO:0005582"}
xref: NCIT:C6142 {source="DOID:4919", source="MONDO:kboom-pr-0.91/0.79/0.32", source="MONDO:equivalentTo", source="EFO:0005582"}
xref: SCTID:363457009 {source="DOID:4919", source="MONDO:kboom-pr-0.89/0.75/0.37", source="MONDO:equivalentTo"}
xref: UMLS:C0153618 {source="DOID:4919", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
xref: UMLS:C1335749 {source="DOID:4919", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005206 {source="MONDO:Redundant", source="MONDOLEX:0005519", source="NCIT:C6142", source="OWLReasoner:2017"} ! renal carcinoma
is_a: MONDO:0044919 ! malignant renal pelvis neoplasm
property_value: closeMatch http://identifiers.org/snomedct/188254006
property_value: closeMatch http://identifiers.org/snomedct/93985007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3163938
property_value: exactMatch DOID:4919
property_value: exactMatch http://identifiers.org/snomedct/363457009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335749
property_value: exactMatch NCIT:C6142

[Term]
id: MONDO:0005520
name: rickets (disease)
def: "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." [NCIT:P378]
subset: gard_rare
synonym: "active rickets" RELATED [DOID:10609]
synonym: "hypovitaminosis D" RELATED [GARD:0005700]
synonym: "nutritional rickets" RELATED [GARD:0005700]
synonym: "rachitis" EXACT [NCIT:C26878]
synonym: "rickets" EXACT [MONDO:ambiguous]
synonym: "vitamin D deficiency disease" RELATED [GARD:0005700]
synonym: "vitamin D hydroxylation-deficient rickets" EXACT [DOID:10609]
synonym: "vitamin D-dependent rickets" EXACT EXCLUDE [DOID:10609]
synonym: "vitamin-D deficiency rickets" RELATED [GARD:0005700]
xref: COHD:438719 {source="MONDO:equivalentTo"}
xref: DOID:10609 {source="MONDO:equivalentTo", source="EFO:0005583"}
xref: EFO:0005583 {source="MONDO:equivalentTo"}
xref: GARD:0005700 {source="MONDO:equivalentTo"}
xref: HP:0002748 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E55.0 {source="DOID:10609"}
xref: ICD9:268.0 {source="DOID:10609"}
xref: MESH:D012279 {source="MONDO:equivalentTo", source="DOID:10609", source="MONDO:ontobio", source="EFO:0005583"}
xref: NCIT:C26878 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10609", source="EFO:0005583"}
xref: SCTID:41345002 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"}
xref: UMLS:C0035579 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:10609", source="NCIT:C26878"}
is_a: MONDO:0000833 {source="DOID:10609", source="PMID:20936937"} ! bone remodeling disease
property_value: closeMatch http://identifiers.org/snomedct/154728003
property_value: closeMatch http://identifiers.org/snomedct/190639009
property_value: closeMatch http://identifiers.org/snomedct/190640006
property_value: exactMatch DOID:10609
property_value: exactMatch http://identifiers.org/mesh/D012279
property_value: exactMatch http://identifiers.org/snomedct/41345002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035579
property_value: exactMatch NCIT:C26878

[Term]
id: MONDO:0005521
name: obsolete shigellosis
is_obsolete: true
replaced_by: MONDO:0019345

[Term]
id: MONDO:0005522
name: small intestine carcinoma
def: "A carcinoma that arises from epithelial cells of the small intestine" [MONDO:DesignPattern]
synonym: "cancer of small bowel" BROAD [NCIT:C7724]
synonym: "cancer of the small bowel" BROAD [DOID:4907, NCIT:C7724]
synonym: "carcinoma of small bowel" EXACT [NCIT:C7724]
synonym: "carcinoma of small intestine" EXACT [MONDO:patterns/carcinoma, NCIT:C7724]
synonym: "carcinoma of the small bowel" EXACT [NCIT:C7724]
synonym: "carcinoma of the small intestine" EXACT [NCIT:C7724]
synonym: "small bowel cancer" BROAD [DOID:4907, NCIT:C7724]
synonym: "small bowel carcinoma" EXACT [NCIT:C7724]
synonym: "small intestinal cancer" BROAD [NCIT:C7724]
synonym: "small intestinal carcinoma" EXACT [DOID:4907, NCIT:C7724]
synonym: "small intestine cancer" BROAD [NCIT:C7724]
synonym: "small intestine cancer, NOS" EXACT [NCIT:C7724]
synonym: "small intestine carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4907 {source="EFO:0005588", source="MONDO:equivalentTo"}
xref: EFO:0005588 {source="MONDO:equivalentTo"}
xref: NCIT:C7724 {source="EFO:0005588", source="MONDO:equivalentTo", source="ONCOTREE:SIC", source="DOID:4907", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: ONCOTREE:SIC {source="MONDO:equivalentTo"}
xref: SCTID:448664009 {source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
is_a: MONDO:0000956 {source="DOID:4907", source="MONDO:Redundant", source="MONDOLEX:0005522", source="NCIT:C7724"} ! small intestine cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C7724", source="OWLReasoner:2017"} ! digestive system carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238196
property_value: exactMatch DOID:4907
property_value: exactMatch http://identifiers.org/snomedct/448664009
property_value: exactMatch NCIT:C7724

[Term]
id: MONDO:0005523
name: steroid inherited metabolic disorder
def: "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." [MESH:D043202]
xref: DOID:1701 {source="MONDO:equivalentTo", source="EFO:0005590"}
xref: EFO:0005590 {source="MONDO:equivalentTo"}
xref: MESH:D043202 {source="MONDO:equivalentTo", source="DOID:1701"}
xref: UMLS:C1257809 {source="MONDO:equivalentTo", source="DOID:1701"}
is_a: MONDO:0002525 {source="DOID:1701"} ! inherited lipid metabolism disorder
property_value: exactMatch DOID:1701
property_value: exactMatch http://identifiers.org/mesh/D043202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257809

[Term]
id: MONDO:0005524
name: sweat gland carcinoma
def: "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." [EFO:0005591]
synonym: "carcinoma of sweat gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6938]
synonym: "carcinoma of the sweat gland" EXACT [DOID:5667, NCIT:C6938]
synonym: "carcinoma, sweat gland, malignant" EXACT [NCIT:C6938]
synonym: "sweat gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6938]
synonym: "sweat gland carcinoma/apocrine eccrine carcinoma" RELATED [ONCOTREE:AECA]
xref: DOID:5667 {source="MONDO:equivalentTo", source="EFO:0005591"}
xref: EFO:0005591 {source="MONDO:equivalentTo"}
xref: ICDO:8400/3 {source="NCIT:C6938"}
xref: NCIT:C6938 {source="DOID:5667", source="MONDO:equivalentTo", source="EFO:0005591", source="exact-label-match"}
xref: ONCOTREE:AECA {source="MONDO:equivalentTo"}
xref: UMLS:C1412016 {source="NCIT:C6938", source="DOID:5667", source="MONDO:equivalentTo"}
is_a: MONDO:0002206 {source="DOID:5667", source="MONDO:Redundant", source="NCIT:C6938"} ! sweat gland cancer
is_a: MONDO:0004970 {source="NCIT:C6938"} ! adenocarcinoma
is_a: MONDO:0006973 {source="MONDO:Redundant", source="NCIT:C6938"} ! skin appendage carcinoma
property_value: closeMatch http://identifiers.org/snomedct/254707006
property_value: closeMatch http://identifiers.org/snomedct/32272007
property_value: exactMatch DOID:5667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412016
property_value: exactMatch NCIT:C6938

[Term]
id: MONDO:0005525
name: T-cell leukemia
def: "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." [MESH:D015458]
synonym: "leukemia (disease) of T cell" EXACT []
synonym: "T cell leukemia (disease)" EXACT [MONDO:patterns/location]
xref: DOID:715 {source="MONDO:equivalentTo", source="EFO:0005592"}
xref: EFO:0005592 {source="MONDO:equivalentTo"}
xref: MESH:D015458 {source="MONDO:equivalentTo", source="DOID:715", source="MONDO:ontobio", source="EFO:0005592"}
xref: UMLS:C0023492 {source="MONDO:equivalentTo", source="DOID:715"}
is_a: MONDO:0004805 {source="DOID:715", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disease
is_a: MONDO:0005402 {source="DOID:715", source="EFO:0005592", source="MESH:D015458"} ! lymphoid leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/703821009
property_value: exactMatch DOID:715
property_value: exactMatch http://identifiers.org/mesh/D015458
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023492

[Term]
id: MONDO:0005526
name: tetanus
def: "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." [NCIT:P378]
comment: We treat tetanus and infection due to Clostridium tetani as synonymous
subset: gard_rare {source="GARD:0005144"}
subset: ordo_disease {source="Orphanet:3299"}
synonym: "clostridial tetanus" EXACT [CSP2005:0368-2622, DOID:11338]
synonym: "Clostridium tetani caused infectious disease of the nervous system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Clostridium tetani infectious disease of the nervous system" EXACT []
synonym: "infection due to Clostridium tetani" EXACT [DOID:11338]
synonym: "lockjaw" RELATED [GARD:0005144]
xref: COHD:435740 {source="MONDO:equivalentTo"}
xref: DOID:11338 {source="MONDO:equivalentTo", source="EFO:0005593"}
xref: EFO:0005593 {source="MONDO:equivalentTo"}
xref: GARD:0005144 {source="MONDO:equivalentTo"}
xref: ICD10:A33 {source="Orphanet:3299", source="MONDO:superClassOf", source="ORDO:3299/btnt"}
xref: ICD10:A34 {source="Orphanet:3299", source="ORDO:3299/btnt"}
xref: ICD10:A35 {source="Orphanet:3299", source="DOID:11338", source="ORDO:3299/btnt"}
xref: ICD9:037 {source="DOID:11338", source="EFO:0005593"}
xref: MedDRA:10043376 {source="Orphanet:3299", source="ORDO:3299/e"}
xref: MESH:D013742 {source="Orphanet:3299", source="ORDO:3299/e", source="DOID:11338", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0005593"}
xref: NCIT:C85185 {source="DOID:11338", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0005593"}
xref: Orphanet:3299 {source="MONDO:equivalentTo"}
xref: SCTID:276202003 {source="DOID:11338", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.30"}
xref: SCTID:76902006 {source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"}
xref: UMLS:C0039614 {source="Orphanet:3299", source="ORDO:3299/e", source="DOID:11338", source="MONDO:equivalentTo", source="NCIT:C85185"}
is_a: MONDO:0000314 {source="DOID:11338"} ! primary bacterial infectious disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:3299"} ! infectious disease of the nervous system
is_a: MONDO:0024388 ! Clostridium infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154312006
property_value: exactMatch DOID:11338
property_value: exactMatch http://identifiers.org/meddra/10043376
property_value: exactMatch http://identifiers.org/mesh/D013742
property_value: exactMatch http://identifiers.org/snomedct/276202003
property_value: exactMatch http://identifiers.org/snomedct/76902006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039614
property_value: exactMatch NCIT:C85185
property_value: exactMatch Orphanet:3299
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5144/tetanus xsd:anyURI {source="GARD:0005144"}

[Term]
id: MONDO:0005527
name: toxic encephalopathy
def: "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." [NCIT:P378]
synonym: "neurotoxicity" EXACT [CSP2005:4006-0067, DOID:3602, NCIT:C27961]
synonym: "neurotoxicity syndrome" EXACT [DOID:3602]
synonym: "neurotoxicity syndromes" RELATED [GARD:0007199]
xref: COHD:373764 {source="MONDO:equivalentTo"}
xref: DOID:3602 {source="MONDO:equivalentTo", source="EFO:0005595"}
xref: EFO:0005595 {source="MONDO:equivalentTo"}
xref: GARD:0007199 {source="MONDO:equivalentTo"}
xref: ICD10:G92 {source="MONDO:equivalentTo"}
xref: ICD9:349.82 {source="MONDO:equivalentTo", source="i2s", source="EFO:0005595"}
xref: MESH:D020258 {source="MONDO:equivalentTo", source="DOID:3602", source="MONDO:ontobio"}
xref: NCIT:C27961 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:3602", source="EFO:0005595"}
xref: SCTID:28394000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="EFO:0005595"}
xref: Wikipedia:Toxic_encephalopathy {source="EFO:0005595"}
is_a: MONDO:0005071 {source="DOID:3602", source="EFO:0005595", source="ICD10:G92/inferred", source="MESH:D020258", source="NCIT:C27961/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/19466003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0235032
property_value: exactMatch DOID:3602
property_value: exactMatch http://identifiers.org/mesh/D020258
property_value: exactMatch http://identifiers.org/snomedct/28394000
property_value: exactMatch NCIT:C27961

[Term]
id: MONDO:0005528
name: inborn vitamin metabolic disorder
def: "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process." [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn vitamin metabolic process disorder" EXACT []
synonym: "rare inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of vitamin metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
synonym: "vitamin metabolic disorder" RELATED [DOID:0050718]
xref: DOID:0050718 {source="EFO:0005596", source="MONDO:equivalentTo"}
xref: EFO:0005596 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="DOID:0050718", source="MONDO:Redundant"} ! inborn errors of metabolism
is_a: MONDO:0024298 {source="MONDO:cjm"} ! vitamin deficiency disorder
property_value: exactMatch DOID:0050718

[Term]
id: MONDO:0005529
name: obsolete methylmalonic aciduria and homocystinuria type cblG
is_obsolete: true
replaced_by: MONDO:0009609

[Term]
id: MONDO:0005530
name: opiate dependence
def: "Disorders related or resulting from abuse or mis-use of opioids." [MESH:D009293]
synonym: "narcotism" RELATED []
synonym: "opioid dependence" EXACT []
synonym: "opioid type dependence" EXACT [DOID:2559, ICD9CM_2006:304.0]
xref: DOID:2559 {source="EFO:0005611", source="MONDO:equivalentTo"}
xref: EFO:0005611 {source="MONDO:equivalentTo"}
xref: ICD10:F11.2 {source="DOID:2559"}
xref: ICD9:304.0 {source="DOID:2559"}
xref: ICD9:304.00 {source="DOID:2559"}
xref: MESH:D009293 {source="MONDO:equivalentTo", source="DOID:2559", source="MONDO:ontobio"}
xref: SCTID:75544000 {source="MONDO:equivalentTo", source="DOID:2559"}
is_a: MONDO:0005303 {source="DOID:2559", source="EFO:0005611", source="linkedlifedata"} ! drug dependence
property_value: closeMatch http://identifiers.org/snomedct/191817000
property_value: closeMatch http://identifiers.org/snomedct/191818005
property_value: closeMatch http://identifiers.org/snomedct/192220003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524662
property_value: exactMatch DOID:2559
property_value: exactMatch http://identifiers.org/mesh/D009293
property_value: exactMatch http://identifiers.org/snomedct/75544000

[Term]
id: MONDO:0005531
name: morphine dependence
def: "Strong dependence, both physiological and emotional, upon morphine." [MESH:D009021]
xref: DOID:2560 {source="EFO:0005612", source="MONDO:equivalentTo"}
xref: EFO:0005612 {source="MONDO:equivalentTo"}
xref: MESH:D009021 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:231479000 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005530 {source="DOID:2560", source="EFO:0005612", source="MESH:D009021", source="linkedlifedata"} ! opiate dependence
property_value: closeMatch http://identifiers.org/snomedct/191817000
property_value: closeMatch http://identifiers.org/snomedct/286934009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026552
property_value: exactMatch DOID:2560
property_value: exactMatch http://identifiers.org/mesh/D009021
property_value: exactMatch http://identifiers.org/snomedct/231479000

[Term]
id: MONDO:0005532
name: Crohn's colitis
def: "Crohn's disease affecting the colon." [NCIT:C35211]
synonym: "Crohn colitis" EXACT [NCIT:C35211]
xref: DOID:0060192 {source="EFO:0005622", source="MONDO:equivalentTo"}
xref: EFO:0005622 {source="MONDO:equivalentTo"}
xref: ICD10:K50.1 {source="DOID:0060192"}
xref: ICD9:555.1 {source="MONDO:subClassOf", source="DOID:0060192"}
xref: NCIT:C35211 {source="MONDO:equivalentTo", source="DOID:0060192", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005011 {source="DOID:0060192", source="EFO:0005622", source="NCIT:C35211"} ! Crohn disease
is_a: MONDO:0024634 ! large intestine disease
property_value: closeMatch http://identifiers.org/mesh/D003424
property_value: closeMatch http://identifiers.org/snomedct/155762006
property_value: closeMatch http://identifiers.org/snomedct/196981009
property_value: closeMatch http://identifiers.org/snomedct/196982002
property_value: closeMatch http://identifiers.org/snomedct/266446008
property_value: closeMatch http://identifiers.org/snomedct/50440006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156147
property_value: closeMatch NCIT:C37262
property_value: exactMatch DOID:0060192
property_value: exactMatch NCIT:C35211

[Term]
id: MONDO:0005533
name: distal colitis
def: "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." [EFO:0005623]
synonym: "inflammation of left colon" EXACT []
synonym: "left colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: EFO:0005623 {source="MONDO:equivalentTo"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:373639002 {source="EFO:0005623", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0860168 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005101 {source="EFO:0005623"} ! ulcerative colitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/373639002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860168

[Term]
id: MONDO:0005534
name: ileocolitis
def: "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." [EFO:0005624]
xref: DOID:0060190 {source="MONDO:equivalentTo", source="EFO:0005624"}
xref: EFO:0005624 {source="MONDO:equivalentTo"}
xref: ICD10:K52.9 {source="DOID:0060190"}
xref: MedDRA:10062647 {source="DOID:0060190"}
xref: UMLS:C0949272 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000709 ! Crohn ileitis
is_a: MONDO:0005292 ! colitis (disease)
property_value: closeMatch http://identifiers.org/meddra/10062647
property_value: exactMatch DOID:0060190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949272

[Term]
id: MONDO:0005535
name: oral Crohn disease
def: "Crohn's disease affecting the mouth." [EFO:0005625]
synonym: "oral Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: EFO:0005625 {source="MONDO:equivalentTo"}
xref: SCTID:196578009 {source="MONDO:equivalentTo"}
xref: UMLS:C0399497 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005011 {source="EFO:0005625"} ! Crohn disease
is_a: MONDO:0006858 ! mouth disease
property_value: exactMatch http://identifiers.org/snomedct/196578009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399497

[Term]
id: MONDO:0005536
name: pancolitis
def: "Ulcerative colitis that involves the entire colon." [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
synonym: "pan-ulcerative colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
synonym: "universal colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
xref: EFO:0005626 {source="MONDO:equivalentTo"}
is_a: MONDO:0005101 {source="EFO:0005626", source="MONDOLEX:0005536"} ! ulcerative colitis (disease)

[Term]
id: MONDO:0005537
name: perianal Crohn disease
def: "An Crohn disease involving a pathogenic inflammatory response in the anal canal." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "perianal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: EFO:0005627 {source="MONDO:equivalentTo"}
xref: SCTID:235796008 {source="MONDO:equivalentTo", source="EFO:0005627", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0341395 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002269 ! gastroenteritis
is_a: MONDO:0005011 {source="EFO:0005627", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn disease
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch http://identifiers.org/snomedct/235796008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341395

[Term]
id: MONDO:0005538
name: proctitis
def: "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." [NCIT:P378]
synonym: "anus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of anus" EXACT []
synonym: "rectitis" EXACT [NCIT:C38011]
xref: DOID:3127 {source="MONDO:equivalentTo", source="EFO:0005628"}
xref: EFO:0005628 {source="MONDO:equivalentTo"}
xref: ICD10:K62.89 {source="DOID:3127"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011349 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628", source="MONDO:ontobio"}
xref: NCIT:C38011 {source="MONDO:equivalentTo", source="DOID:3127", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0005628"}
xref: SCTID:3951002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3127", source="EFO:0005628"}
xref: UMLS:C0033246 {source="NCIT:C38011", source="MONDO:equivalentTo", source="DOID:3127"}
is_a: MONDO:0002519 {source="MONDO:Redundant", source="NCIT:C38011/inferred"} ! anus disease
is_a: MONDO:0005265 {source="EFO:0005628"} ! inflammatory bowel disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155806004
property_value: closeMatch http://identifiers.org/snomedct/197229007
property_value: closeMatch http://identifiers.org/snomedct/266534007
property_value: exactMatch DOID:3127
property_value: exactMatch http://identifiers.org/mesh/D011349
property_value: exactMatch http://identifiers.org/snomedct/3951002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033246
property_value: exactMatch NCIT:C38011

[Term]
id: MONDO:0005539
name: small bowel Crohn disease
def: "An Crohn disease involving a pathogenic inflammatory response in the small intestine." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "small bowel Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: EFO:0005629 {source="MONDO:equivalentTo"}
is_a: MONDO:0005011 {source="EFO:0005629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn disease
is_a: MONDO:0043579 ! enteritis

[Term]
id: MONDO:0005540
name: obsolete rectal adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002169

[Term]
id: MONDO:0005541
name: spondylolysis (disease)
def: "A defect in the pars interarticularis of a vertebral bone." [NCIT:P378]
synonym: "spondylolysis" EXACT [MONDO:ambiguous]
xref: DOID:2300 {source="MONDO:equivalentTo", source="EFO:0005649"}
xref: EFO:0005649 {source="MONDO:equivalentTo"}
xref: HP:0003304 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M43.0 {source="DOID:2300"}
xref: ICD10:M43.00 {source="DOID:2300"}
xref: MESH:D013169 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649", source="MONDO:ontobio"}
xref: NCIT:C35034 {source="DOID:2300", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0005649"}
xref: SCTID:240221008 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID_2010_1_31:240221008 {source="EFO:0005649"}
xref: UMLS:C0038018 {source="NCIT:C35034", source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"}
is_a: MONDO:0000836 {source="DOID:2300"} ! disease of bone structure
is_a: MONDO:0045002 ! vertebral disease
property_value: closeMatch http://identifiers.org/snomedct/203688008
property_value: exactMatch DOID:2300
property_value: exactMatch http://identifiers.org/mesh/D013169
property_value: exactMatch http://identifiers.org/snomedct/240221008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038018
property_value: exactMatch NCIT:C35034

[Term]
id: MONDO:0005542
name: acute coronary syndrome
def: "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." [NCIT:C53652]
synonym: "acute coronary syndrome" EXACT [NCIT:C53652]
synonym: "acute coronary syndromes" RELATED [MESH:D054058]
synonym: "coronary syndrome, acute" RELATED [MESH:D054058]
synonym: "coronary syndromes, acute" RELATED [MESH:D054058]
synonym: "syndrome, acute coronary" RELATED [MESH:D054058]
synonym: "syndromes, acute coronary" RELATED [MESH:D054058]
xref: EFO:0005672 {source="MONDO:equivalentTo"}
xref: MESH:D054058 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0005672"}
xref: NCIT:C53652 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0005672"}
xref: SCTID:394659003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:0005672"}
xref: UMLS:C0948089 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C53652"}
is_a: MONDO:0002254 {source="MONDOLEX:0005542", source="NCIT:C53652"} ! syndromic disease
is_a: MONDO:0024644 {source="MESH:D054058", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! myocardial ischemia
relationship: disease_arises_from_feature MONDO:0005010 ! coronary artery disease
property_value: exactMatch http://identifiers.org/mesh/D054058
property_value: exactMatch http://identifiers.org/snomedct/394659003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948089
property_value: exactMatch NCIT:C53652

[Term]
id: MONDO:0005543
name: autoimmune hepatitis type 1
def: "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA)." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
synonym: "autoimmune hepatitis type 1" EXACT []
synonym: "type 1 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/]
xref: ICD9:571.49 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:197284004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.46/0.50"}
xref: SCTID:721711009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016264 {source="MONDO:cjm", source="MONDOLEX:0005543", source="linkedlifedata"} ! autoimmune hepatitis
property_value: exactMatch http://identifiers.org/snomedct/197284004
property_value: exactMatch http://identifiers.org/snomedct/721711009

[Term]
id: MONDO:0005544
name: hippocampal sclerosis of aging
def: "age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" [EFO:0005678]
xref: EFO:0005678 {source="MONDO:equivalentTo"}
is_a: MONDO:0044996 ! cerebral cortex disease
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy

[Term]
id: MONDO:0005545
name: staphylococcus aureus infection
def: "An infectious process in which the bacteria Staphylococcus aureus is present." [NCIT:C122576]
xref: EFO:0005681 {source="MONDO:equivalentTo"}
xref: NCIT:C122576 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:406602003 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo"}
is_a: MONDO:0024313 {source="MONDO:Redundant", source="NCIT:C122576", source="linkedlifedata"} ! staphylococcal infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1318973
property_value: exactMatch http://identifiers.org/snomedct/406602003
property_value: exactMatch NCIT:C122576

[Term]
id: MONDO:0005546
name: fibromyalgia
def: "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." [NCIT:C87497]
synonym: "fibromyalgia" EXACT [NCIT:C87497]
synonym: "fibromyalgia syndrome" EXACT [NCIT:C87497]
xref: DOID:631 {source="EFO:0005687", source="MONDO:equivalentTo"}
xref: EFO:0005687 {source="MONDO:equivalentTo"}
xref: GARD:0012069 {source="MONDO:equivalentTo"}
xref: ICD10:M79.1 {source="DOID:631"}
xref: ICD10:M79.7 {source="MONDO:equivalentTo", source="DOID:631"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005356 {source="EFO:0005687", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:631"}
xref: NCIT:C87497 {source="EFO:0005687", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:631"}
xref: SCTID:203082005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:631"}
xref: UMLS:C0016053 {source="MONDO:equivalentTo", source="NCIT:C87497", source="DOID:631"}
is_a: MONDO:0002254 {source="MONDOLEX:0005546", source="NCIT:C87497"} ! syndromic disease
is_a: MONDO:0021167 {source="DOID:631"} ! myositis
is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome
property_value: closeMatch http://identifiers.org/snomedct/1304004
property_value: closeMatch http://identifiers.org/snomedct/13612005
property_value: closeMatch http://identifiers.org/snomedct/156727006
property_value: closeMatch http://identifiers.org/snomedct/203101004
property_value: closeMatch http://identifiers.org/snomedct/203102006
property_value: closeMatch http://identifiers.org/snomedct/203111006
property_value: closeMatch http://identifiers.org/snomedct/203138004
property_value: closeMatch http://identifiers.org/snomedct/247365004
property_value: closeMatch http://identifiers.org/snomedct/268107007
property_value: closeMatch http://identifiers.org/snomedct/56557000
property_value: closeMatch NCIT:C50566
property_value: exactMatch DOID:631
property_value: exactMatch http://identifiers.org/mesh/D005356
property_value: exactMatch http://identifiers.org/snomedct/203082005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016053
property_value: exactMatch NCIT:C87497

[Term]
id: MONDO:0005547
name: desmoplastic medulloblastoma
def: "A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network." [NCIT:P378]
xref: EFO:0005699 {source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="EFO:0005699"} ! medulloblastoma
property_value: closeMatch http://identifiers.org/snomedct/32456001

[Term]
id: MONDO:0005548
name: obsolete malignant rhabdoid tumour
is_obsolete: true
replaced_by: MONDO:0002728

[Term]
id: MONDO:0005549
name: renal cell adenocarcinoma
def: "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." [EFO:0005708]
comment: Editor note: check relationship to RCC
synonym: "adenocarcinoma of kidney" EXACT [NCIT:C9385]
synonym: "adenocarcinoma of the kidney" EXACT [NCIT:C9385]
synonym: "carcinoma, renal cell, malignant" EXACT [NCIT:C9385]
synonym: "kidney adenocarcinoma" EXACT [NCIT:C9385]
synonym: "RCC" EXACT [NCIT:C9385]
synonym: "renal cell adenocarcinoma" EXACT [NCIT:C9385]
synonym: "renal cell cancer" EXACT [NCIT:C9385]
synonym: "renal cell carcinoma" EXACT [NCIT:C9385]
synonym: "renal cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C9385]
synonym: "renal cell carcinoma, stage unspecified" EXACT [NCIT:C9385]
xref: EFO:0005708 {source="MONDO:equivalentTo"}
xref: ICDO:8311/1 {source="NCIT:C9385"}
xref: ICDO:8312/3 {source="NCIT:C9385"}
xref: NCIT:C9385 {source="MONDO:kboom-pr-0.89/0.75/0.32", source="MONDO:equivalentTo"}
is_a: MONDO:0005086 ! renal cell carcinoma (disease)
property_value: exactMatch NCIT:C9385

[Term]
id: MONDO:0005550
name: infectious disease
def: "A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." [NCIT:C26726]
comment: Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. {source="EFO:0005741"}
synonym: "clinical infection" EXACT [NCIT:C26726]
synonym: "communicable disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557, https://www.merriam-webster.com/medical/communicable%20disease]
synonym: "disease by infectious agent" RELATED [DOID:0050117]
synonym: "ID" EXACT EXCLUDE [NCIT:C26726]
synonym: "infection" EXACT [NCIT:C26726]
synonym: "infectious" EXACT [NCIT:C26726]
synonym: "infectious disease" EXACT [DOID:0050117, NCIT:C26726]
synonym: "infectious diseases and manifestations" EXACT [NCIT:C26726]
synonym: "infectious disorder" EXACT [NCIT:C26726]
synonym: "transmissible disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557]
xref: DOID:0050117 {source="EFO:0005741", source="MONDO:equivalentTo"}
xref: EFO:0005741 {source="MONDO:equivalentTo"}
xref: ICD10:A00.B99 {source="some infections are in other chapters", source="MONDO:superClassOf"}
xref: ICD9:079.0 {source="DOID:0050117"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: IDO:0000436 {source="EFO:0005741"}
xref: MESH:D003141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26726 {source="MONDO:equivalentTo"}
xref: SCTID:40733004 {source="MONDO:kboom-pr-0.92/0.81/0.38", source="EFO:0005741", source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
disjoint_from: MONDO:0019751 ! autoinflammatory syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001485
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009450
property_value: exactMatch DOID:0050117
property_value: exactMatch http://identifiers.org/mesh/D003141
property_value: exactMatch http://identifiers.org/snomedct/40733004
property_value: exactMatch NCIT:C26726

[Term]
id: MONDO:0005551
name: eye allergy
def: "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: EFO:0005751 {source="MONDO:equivalentTo"}
is_a: MONDO:0005271 {source="EFO:0005751", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
is_a: MONDO:0005328 {source="EFO:0005751", source="MONDO:Entailed"} ! eye disease

[Term]
id: MONDO:0005552
name: ocular vascular disease
def: "A disorder that is caused by pathologic changes in the ocular vasculature." [NCIT:P378]
synonym: "disease of vasculature of eye" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vasculature of eye" EXACT []
synonym: "disorder of vasculature of eye" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vasculature of eye" RELATED [MONDO:patterns/location_top]
synonym: "ocular vascular disorder" EXACT [NCIT:C35664]
synonym: "vasculature of eye disease" EXACT [MONDO:patterns/location]
synonym: "vasculature of eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0005753 {source="MONDO:equivalentTo"}
xref: NCIT:C35664 {source="EFO:0005753", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="EFO:0005753", source="MONDO:Entailed", source="NCIT:C35664"} ! eye disease
is_a: MONDO:0005385 ! vascular disease
property_value: exactMatch NCIT:C35664

[Term]
id: MONDO:0005553
name: obsolete parathyroid disease
is_obsolete: true
replaced_by: MONDO:0001223

[Term]
id: MONDO:0005554
name: rheumatologic disorder
def: "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." [NCIT:C27204]
comment: This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue
synonym: "collagen disease" RELATED [NCIT:C27204]
synonym: "collagen vascular disease" RELATED [NCIT:C27204]
synonym: "connective tissue disease" RELATED [NCIT:C27204]
synonym: "disease, rheumatic" RELATED [MESH:D012216]
synonym: "diseases, rheumatic" RELATED [MESH:D012216]
synonym: "enthesopathies" RELATED [MESH:D012216]
synonym: "enthesopathy" RELATED [MESH:D012216]
synonym: "inflammatory rheumatism" RELATED [NCIT:C27204]
synonym: "musculoskeletal pain disorder" RELATED [NCIT:C27204]
synonym: "rheumatic disease" RELATED [MESH:D012216, NCIT:C27204]
synonym: "rheumatism" RELATED [MESH:D012216, NCIT:C27204]
synonym: "rheumatologic disorder" EXACT [NCIT:C27204]
xref: DOID:1575 {source="EFO:0005755", source="MONDO:equivalentTo"}
xref: EFO:0005755 {source="MONDO:equivalentTo"}
xref: ICD9:729.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012216 {source="MONDO:equivalentTo"}
xref: NCIT:C27204 {source="MONDO:equivalentTo", source="kboom:pr0.75-conf4.32"}
xref: SCTID:396332003 {source="EFO:0005755", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.39/0.39"}
xref: UMLS:C0035435 {source="MONDO:equivalentTo", source="NCIT:C27204"}
xref: Wikipedia:Rheumatism {source="EFO:0005755"}
is_a: MONDO:0003900 {source="DOID:1575", source="MESH:D012216"} ! connective tissue disease
relationship: excluded_subClassOf MONDO:0000589 {source="DOID:1575"} ! autoimmune disease of musculoskeletal system
relationship: excluded_subClassOf MONDO:0002081 {source="MESH:D012216", source="linkedlifedata"} ! musculoskeletal system disease
relationship: excluded_subClassOf MONDO:0005046 {source="MONDO:Redundant", source="NCIT:C27204"} ! immune system disease
property_value: exactMatch DOID:1575
property_value: exactMatch http://identifiers.org/mesh/D012216
property_value: exactMatch http://identifiers.org/snomedct/396332003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035435
property_value: exactMatch NCIT:C27204

[Term]
id: MONDO:0005555
name: cycloplegia
def: "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." [EFO:0005758]
synonym: "accommodative paresis" RELATED []
synonym: "ciliary muscle paresis" EXACT [DOID:10033]
synonym: "cycloplegia" EXACT []
synonym: "cycloplegic paralysis of accommodation" EXACT [DOID:10033]
synonym: "loss of accommodation" RELATED []
synonym: "paralysis of accommodation" RELATED []
synonym: "paresis of accommodation" EXACT [DOID:10033, ICD9CM_2006:367.51]
synonym: "visual accommodation paralysis" RELATED []
xref: DOID:10033 {source="MONDO:equivalentTo", source="EFO:0005758"}
xref: EFO:0005758 {source="MONDO:equivalentTo"}
xref: ICD10:H52.52 {source="DOID:10033"}
xref: ICD9:367.51 {source="MONDO:equivalentTo", source="i2s", source="EFO:0005758", source="DOID:10033"}
xref: SCTID:68158006 {source="MONDO:equivalentTo", source="EFO:0005758", source="DOID:10033", source="MONDO:kboom-pr-1.00/0.80/9.13"}
xref: SCTID_2010_1_31:232141000 {source="EFO:0005758"}
xref: SCTID_2010_1_31:255335004 {source="EFO:0005758"}
xref: SCTID_2010_1_31:68158006 {source="EFO:0005758"}
xref: UMLS:C0235238 {source="MONDO:equivalentTo", source="EFO:0005758", source="DOID:10033"}
xref: Wikipedia:Cycloplegia {source="EFO:0005758"}
is_a: MONDO:0000926 {source="DOID:10033", source="linkedlifedata"} ! eye accommodation disease
property_value: closeMatch http://identifiers.org/snomedct/232141000
property_value: closeMatch http://identifiers.org/snomedct/255335004
property_value: exactMatch DOID:10033
property_value: exactMatch http://identifiers.org/snomedct/68158006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235238

[Term]
id: MONDO:0005556
name: lupus nephritis
def: "Glomerulonephritis in the context of systemic lupus erythematosus." [NCIT:C34789]
subset: gard_rare {source="GARD:0010747"}
synonym: "Glomerulonephritides, lupus" RELATED [MESH:D008181]
synonym: "glomerulonephritis, lupus" RELATED [MESH:D008181]
synonym: "lupus Glomerulonephritides" RELATED [MESH:D008181]
synonym: "lupus glomerulonephritis" EXACT [MESH:D008181, NCIT:C34789]
synonym: "lupus Nephritides" RELATED [MESH:D008181]
synonym: "lupus nephritis" EXACT [NCIT:C34789]
synonym: "Nephritides, lupus" RELATED [MESH:D008181]
synonym: "nephritis, lupus" RELATED [MESH:D008181]
synonym: "SLE nephritis" EXACT [NCIT:C34789]
xref: DOID:0080162 {source="MONDO:equivalentTo"}
xref: EFO:0005761 {source="MONDO:equivalentTo"}
xref: GARD:0010747 {source="MONDO:equivalentTo"}
xref: MESH:D008181 {source="DOID:0080162", source="EFO:0005761", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34789 {source="EFO:0005761", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:68815009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.66"}
xref: UMLS:C0024143 {source="MONDO:equivalentTo", source="NCIT:C34789", source="GARD:0010747"}
is_a: MONDO:0030700 ! autoimmune glomerulonephritis
intersection_of: MONDO:0002462 ! glomerulonephritis (disease)
intersection_of: disease_arises_from_feature MONDO:0007915 ! systemic lupus erythematosus (disease)
relationship: disease_arises_from_feature MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: exactMatch DOID:0080162
property_value: exactMatch http://identifiers.org/mesh/D008181
property_value: exactMatch http://identifiers.org/snomedct/68815009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024143
property_value: exactMatch NCIT:C34789
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis xsd:anyURI {source="GARD:0010747"}

[Term]
id: MONDO:0005557
name: calcium metabolic disease
def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128]
comment: Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. {source="EFO:0005769"}
synonym: "calcium metabolism disease" RELATED [DOID:10575]
synonym: "calcium metabolism disorder" RELATED []
synonym: "disorder of calcium metabolism" EXACT []
xref: DOID:10575 {source="MONDO:equivalentTo", source="EFO:0005769", source="refers to acquired form"}
xref: EFO:0005769 {source="MONDO:equivalentTo"}
xref: ICD10:E83.5 {source="DOID:10575"}
xref: ICD10:E83.50 {source="DOID:10575"}
xref: ICD9:275.4 {source="MONDO:equivalentTo", source="i2s", source="EFO:0005769", source="DOID:10575"}
xref: ICD9:275.40 {source="MONDO:equivalentTo", source="i2s", source="EFO:0005769", source="DOID:10575"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002128 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"}
xref: SCTID:71638002 {source="MONDO:equivalentTo", source="DOID:10575"}
xref: SCTID_2010_1_31:190863003 {source="EFO:0005769"}
xref: SCTID_2010_1_31:190874007 {source="EFO:0005769"}
xref: SCTID_2010_1_31:267442002 {source="EFO:0005769"}
xref: SCTID_2010_1_31:71638002 {source="EFO:0005769"}
xref: UMLS:C0006705 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"}
is_a: MONDO:0000226 {source="DOID:10575", source="linkedlifedata", source="linkedlifedata/inferred"} ! mineral metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/190863003
property_value: closeMatch http://identifiers.org/snomedct/190874007
property_value: closeMatch http://identifiers.org/snomedct/267442002
property_value: exactMatch DOID:10575
property_value: exactMatch http://identifiers.org/mesh/D002128
property_value: exactMatch http://identifiers.org/snomedct/71638002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006705

[Term]
id: MONDO:0005558
name: ovarian disease
def: "A disease involving the ovary." [MONDO:DesignPattern]
synonym: "disease of ovary" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ovary" EXACT []
synonym: "disorder of ovary" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ovary" RELATED [MONDO:patterns/location_top]
synonym: "ovarian disease" EXACT [NCIT:C26841]
synonym: "ovarian disorder" EXACT [NCIT:C26841]
synonym: "ovary disease" EXACT [MONDO:patterns/location]
synonym: "ovary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1100 {source="MONDO:equivalentTo", source="EFO:0005771"}
xref: EFO:0005771 {source="MONDO:equivalentTo"}
xref: MESH:D010049 {source="DOID:1100", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26841 {source="DOID:1100", source="MONDO:equivalentTo", source="EFO:0005771", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:5552004 {source="DOID:1100", source="MONDO:equivalentTo"}
xref: UMLS:C0029928 {source="DOID:1100", source="MONDO:equivalentTo", source="NCIT:C26841"}
is_a: MONDO:0002259 {source="DOID:1100", source="MESH:D010049", source="MONDO:Redundant", source="OWLReasoner:2017"} ! gonadal disease
is_a: MONDO:0002263 {source="DOID:1100", source="MESH:D010049/inferred", source="MONDO:Redundant", source="NCIT:C26841", source="linkedlifedata"} ! female reproductive system disease
property_value: exactMatch DOID:1100
property_value: exactMatch http://identifiers.org/mesh/D010049
property_value: exactMatch http://identifiers.org/snomedct/5552004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029928
property_value: exactMatch NCIT:C26841

[Term]
id: MONDO:0005559
name: neurodegenerative disease
def: "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." [NCIT:C4802]
comment: Editor notes: DO treats this as two diseases
subset: merged_class
synonym: "brain degeneration" EXACT [DOID:1443]
synonym: "central nervous system degenerative disorder" EXACT [MONDO:patterns/location, NCIT:C4802]
synonym: "central nervous system neurodegenerative disorder" EXACT [NCIT:C4802]
synonym: "cerebral degeneration disease" NARROW [MONDO:0001963]
synonym: "degenerative disease" BROAD [DOID:1289]
synonym: "degenerative disorder of central nervous system" EXACT [MONDO:design_pattern]
synonym: "neurodegenerative disease" EXACT [DOID:1289, NCIT:C4802]
xref: DOID:1289 {source="EFO:0005772", source="MONDO:equivalentTo"}
xref: EFO:0005772 {source="MONDO:equivalentTo"}
xref: ICD10:G31.9 {source="DOID:1289"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019636 {source="EFO:0005772", source="DOID:1289", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4802 {source="EFO:0005772", source="MONDO:equivalentTo"}
xref: SCTID:80690008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002602 ! central nervous system disease
is_a: MONDO:0024236 {source="MONDO:Redundant", source="MONDOLEX:0005559", source="NCIT:C4802", source="linkedlifedata"} ! degenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270715
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524851
property_value: exactMatch DOID:1289
property_value: exactMatch http://identifiers.org/mesh/D019636
property_value: exactMatch http://identifiers.org/snomedct/80690008
property_value: exactMatch NCIT:C4802

[Term]
id: MONDO:0005560
name: brain disease
def: "A disease affecting the brain or part of the brain." [EFO:0005774]
comment: Editor note: NCIT has different classes for brain disease and encephalopathy
synonym: "brain disease" EXACT [MONDO:patterns/location]
synonym: "brain disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of brain" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of brain" EXACT []
synonym: "disorder of brain" EXACT [MONDO:patterns/location_top]
synonym: "disorder of brain" RELATED [MONDO:patterns/location_top]
synonym: "encephalopathy" NARROW [DOID:936, NCIT:C26920]
xref: DOID:936 {source="EFO:0005774", source="MONDO:equivalentTo"}
xref: EFO:0005774 {source="MONDO:equivalentTo"}
xref: ICD10:G93.40 {source="DOID:936"}
xref: ICD10:G93.9 {source="DOID:936"}
xref: ICD9:348.3 {source="DOID:936", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:348.30 {source="DOID:936", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:348.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:348.9 {source="DOID:936", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001927 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C96413 {source="DOID:936", source="MONDO:equivalentTo"}
xref: SCTID:81308009 {source="MONDO:kboom-pr-0.99/0.73/5.05", source="DOID:936", source="MONDO:equivalentTo"}
xref: UMLS:C0006111 {source="MEDGEN:kboom-pr99-c99", source="DOID:936", source="MONDO:equivalentTo"}
xref: UMLS:C0085584 {source="MEDGEN:kboom-pr99-c99", source="DOID:936", source="MONDO:equivalentTo", source="NCIT:C26920"}
is_a: MONDO:0002602 {source="DOID:936", source="MESH:D001927", source="MONDO:Redundant", source="NCIT:C26920/inferred", source="linkedlifedata"} ! central nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155053002
property_value: closeMatch http://identifiers.org/snomedct/193051008
property_value: closeMatch http://identifiers.org/snomedct/193059005
property_value: closeMatch http://identifiers.org/snomedct/76011009
property_value: closeMatch NCIT:C26920
property_value: exactMatch DOID:936
property_value: exactMatch http://identifiers.org/mesh/D001927
property_value: exactMatch http://identifiers.org/snomedct/81308009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085584
property_value: exactMatch NCIT:C96413

[Term]
id: MONDO:0005561
name: aortic disease
def: "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" [NCIT:P378]
synonym: "aorta disease" EXACT [MONDO:patterns/location]
synonym: "aorta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic disorder" EXACT [CSP2005:0571-0627, DOID:520]
synonym: "disease of aorta" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of aorta" EXACT []
synonym: "disorder of aorta" EXACT [MONDO:patterns/location_top]
synonym: "disorder of aorta" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the aorta" EXACT [DOID:520]
xref: DOID:520 {source="EFO:0005775", source="MONDO:equivalentTo"}
xref: EFO:0005775 {source="MONDO:equivalentTo"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001018 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:520"}
xref: NCIT:C101253 {source="MONDO:equivalentTo", source="DOID:520"}
xref: SCTID:47040006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.55", source="DOID:520"}
xref: UMLS:C0003493 {source="MONDO:equivalentTo", source="DOID:520"}
is_a: MONDO:0000473 {source="DOID:520", source="NCIT:C101253", source="linkedlifedata", source="linkedlifedata/inferred"} ! arterial disorder
property_value: exactMatch DOID:520
property_value: exactMatch http://identifiers.org/mesh/D001018
property_value: exactMatch http://identifiers.org/snomedct/47040006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003493
property_value: exactMatch NCIT:C101253

[Term]
id: MONDO:0005562
name: age-related hearing impairment
def: "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." [EFO:0005782]
comment: Editor note: check classification sensorineural vs conductive
synonym: "ARHI" EXACT [MONDO:cjm]
xref: DC:0000371 {source="MONDO:equivalentTo"}
xref: EFO:0005782 {source="MONDO:equivalentTo"}
is_a: MONDO:0020678 {source="MONDO:cjm"} ! sensorineural hearing loss disorder

[Term]
id: MONDO:0005563
name: nut midline carcinoma
def: "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." [NCIT:C45716]
subset: ordo_disease {source="Orphanet:443167"}
synonym: "carcinoma with t(15;19)(q13;p13.1) translocation" EXACT [NCIT:C45716]
synonym: "Midline carcinoma of children and Young adults with NUT rearrangement" EXACT [NCIT:C45716]
synonym: "NMC" EXACT [Orphanet:443167]
synonym: "nuclear protein in testis midline carcinoma" EXACT [DOID:0060463]
synonym: "NUT carcinoma" EXACT [NCIT:C45716]
synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716]
synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN]
xref: DOID:0060463 {source="MONDO:equivalentTo"}
xref: EFO:0005783 {source="MONDO:equivalentTo"}
xref: ICD10:C80.9 {source="Orphanet:443167", source="ORDO:443167/ntbt"}
xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:NMCHN {source="MONDO:equivalentTo"}
xref: Orphanet:443167 {source="MONDO:equivalentTo"}
xref: UMLS:C1707291 {source="NCIT:C45716", source="DOID:0060463", source="MONDO:equivalentTo"}
xref: UMLS:CN237663 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: Wikipedia:NUT_midline_carcinoma {source="EFO:0005783"}
is_a: MONDO:0005617 {source="NCIT:C45716"} ! undifferentiated carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0020031"} ! rare
property_value: exactMatch DOID:0060463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237663
property_value: exactMatch NCIT:C45716
property_value: exactMatch Orphanet:443167

[Term]
id: MONDO:0005564
name: embryonal neoplasm
def: "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" [NCIT:C3264]
synonym: "embryo neoplasm" EXACT [DOID:688]
synonym: "embryonal cancer" RELATED [DOID:688]
synonym: "embryonal neoplasm" EXACT [NCIT:C3264]
synonym: "embryonal tumor" EXACT [NCIT:C3264]
synonym: "EMBT" RELATED [ONCOTREE:EMBT]
xref: DOID:688 {source="MONDO:equivalentTo"}
xref: EFO:0005784 {source="MONDO:equivalentTo"}
xref: NCIT:C3264 {source="EFO:0005784", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:EMBT {source="MONDO:equivalentTo"}
xref: UMLS:C0027654 {source="DOID:688", source="NCIT:C3264", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="DOID:688/inferred", source="EFO:0005784", source="MONDOLEX:0005564", source="NCIT:C3264/inferred"} ! neoplasm (disease)
property_value: exactMatch DOID:688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027654
property_value: exactMatch NCIT:C3264

[Term]
id: MONDO:0005565
name: blastoma
def: "A malignant neoplasm composed of undifferentiated cells." [NCIT:C8997]
synonym: "blastoma" EXACT [DOID:0070003, NCIT:C8997]
synonym: "embryoma" EXACT [NCIT:C8997]
xref: DOID:0070003 {source="EFO:0005785", source="MONDO:equivalentTo"}
xref: EFO:0005785 {source="MONDO:equivalentTo"}
xref: ICDO:8981/3 {source="NCIT:C8997"}
xref: NCIT:C8997 {source="EFO:0005785", source="MONDO:equivalentTo", source="DOID:4766"}
is_a: MONDO:0004992 {source="DOID:0070003", source="DOID:0070003/inferred"} ! cancer
is_a: MONDO:0005564 {source="EFO:0005785", source="NCIT:C8997"} ! embryonal neoplasm
property_value: exactMatch DOID:0070003
property_value: exactMatch NCIT:C8997

[Term]
id: MONDO:0005566
name: neonatal abstinence syndrome
def: "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." [NCIT:P378]
synonym: "drug withdrawal syndrome in newborn" EXACT [DOID:9828]
synonym: "NAS" EXACT [NCIT:C87101]
synonym: "neonatal narcotic withdrawal syndrome" EXACT [NCIT:C87101]
synonym: "neonatal withdrawal" RELATED [https://en.wikipedia.org/wiki/Neonatal_withdrawal]
xref: COHD:4212326 {source="MONDO:equivalentTo"}
xref: DOID:9828 {source="EFO:0005799", source="MONDO:equivalentTo"}
xref: EFO:0005799 {source="MONDO:equivalentTo"}
xref: ICD10:P96.1 {source="DOID:9828"}
xref: ICD9:760.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:779.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9828"}
xref: MESH:D009357 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828", source="MONDO:ontobio"}
xref: NCIT:C87101 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: SCTID:414819007 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0027609 {source="MONDO:equivalentTo", source="NCIT:C87101", source="DOID:9828"}
is_a: MONDO:0005567 {source="DOID:9828", source="EFO:0005799", source="MONDOLEX:0005566", source="NCIT:C87101"} ! substance withdrawal syndrome
property_value: closeMatch http://identifiers.org/snomedct/61628006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332133
property_value: closeMatch NCIT:C35808
property_value: exactMatch DOID:9828
property_value: exactMatch http://identifiers.org/mesh/D009357
property_value: exactMatch http://identifiers.org/snomedct/414819007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027609
property_value: exactMatch NCIT:C87101

[Term]
id: MONDO:0005567
name: substance withdrawal syndrome
def: "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." [NCIT:C35046]
synonym: "drug withdrawal" EXACT [NCIT:C35046]
synonym: "drug withdrawal syndrome" EXACT []
synonym: "substance withdrawal" EXACT []
synonym: "substance withdrawal disorder" EXACT [MONDO:0000566]
synonym: "substance withdrawal syndrome" EXACT [NCIT:C35046]
synonym: "withdrawal disorder" RELATED [DOID:0060001]
synonym: "withdrawal syndrome" EXACT [NCIT:C35046]
xref: DOID:0060001 {source="MONDO:equivalentTo"}
xref: EFO:0005800 {source="MONDO:equivalentTo"}
xref: ICD9:292.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013375 {source="MONDO:equivalentTo", source="EFO:0005800", source="MONDO:ontobio"}
xref: NCIT:C35046 {source="MONDO:equivalentTo", source="EFO:0005800", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:363101005 {source="MONDO:equivalentTo"}
xref: UMLS:C0152128 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0005567", source="NCIT:C35046"} ! syndromic disease
is_a: MONDO:0002494 {source="DOID:0060001", source="MESH:D013375"} ! substance-related disorder
is_a: MONDO:0005084 {source="EFO:0005800"} ! mental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038587
property_value: exactMatch DOID:0060001
property_value: exactMatch http://identifiers.org/mesh/D013375
property_value: exactMatch http://identifiers.org/snomedct/363101005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152128
property_value: exactMatch NCIT:C35046

[Term]
id: MONDO:0005568
name: cholesterol embolism
def: "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." [MESH:D017700]
synonym: "atheroembolism" EXACT [DOID:1461]
synonym: "cholesterol crystal embolism" EXACT [DOID:1461]
synonym: "purple toe syndrome" EXACT [DOID:1461]
synonym: "trash foot" EXACT [DOID:1461]
synonym: "warfarin blue toe syndrome" EXACT [DOID:1461]
xref: DOID:1461 {source="EFO:0005801", source="MONDO:equivalentTo"}
xref: EFO:0005801 {source="MONDO:equivalentTo"}
xref: ICD10:I75 {source="DOID:1461"}
xref: ICD9:445 {source="DOID:1461", source="EFO:0005801"}
xref: ICD9:459.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017700 {source="DOID:1461", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:307406004 {source="EFO:0005801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149649 {source="DOID:1461", source="MONDO:equivalentTo"}
xref: UMLS:C0585266 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="DOID:1461", source="MESH:D017700/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! vascular disease
property_value: closeMatch http://identifiers.org/snomedct/10690002
property_value: exactMatch DOID:1461
property_value: exactMatch http://identifiers.org/mesh/D017700
property_value: exactMatch http://identifiers.org/snomedct/307406004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585266

[Term]
id: MONDO:0005569
name: cartilage disease
def: "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." [EFO:0005802]
comment: Editor note: DO places this under articular cartilage disease
synonym: "cartilage disorder" EXACT [DOID:1222]
synonym: "cartilage tissue disease" EXACT [MONDO:patterns/location]
synonym: "cartilage tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Chondropathy" EXACT [DOID:1222]
synonym: "disease of cartilage tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cartilage tissue" EXACT []
synonym: "disorder of cartilage tissue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cartilage tissue" RELATED [MONDO:patterns/location_top]
xref: COHD:4178431 {source="MONDO:equivalentTo"}
xref: DOID:1222 {source="MONDO:equivalentTo", source="EFO:0005802"}
xref: EFO:0005802 {source="MONDO:equivalentTo"}
xref: ICD10:M91-M94 {source="DOID:1222"}
xref: ICD10:M94.9 {source="DOID:1222"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002357 {source="DOID:1222", source="MONDO:equivalentTo", source="EFO:0005802"}
xref: SCTID:50927007 {source="DOID:1222", source="MONDO:equivalentTo", source="EFO:0005802", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0007302 {source="DOID:1222", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 {source="DOID:1222/inferred", source="MESH:D002357", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease
is_a: MONDO:0005172 ! skeletal system disease
property_value: closeMatch http://identifiers.org/snomedct/203526003
property_value: closeMatch http://identifiers.org/snomedct/203908009
property_value: closeMatch http://identifiers.org/snomedct/203914002
property_value: closeMatch http://identifiers.org/snomedct/268062001
property_value: closeMatch http://identifiers.org/snomedct/268126004
property_value: closeMatch http://identifiers.org/snomedct/308148004
property_value: closeMatch http://identifiers.org/snomedct/367355001
property_value: exactMatch DOID:1222
property_value: exactMatch http://identifiers.org/mesh/D002357
property_value: exactMatch http://identifiers.org/snomedct/50927007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007302

[Term]
id: MONDO:0005570
name: hematologic disease
def: "A disease involving the hematopoietic system." [MONDO:DesignPattern]
comment: placeholder for lymphoid disease {source="EFO:0005803"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97992"}
synonym: "blood disease" EXACT [DOID:74]
synonym: "blood disorder" EXACT [CSP2005:0427-3600, DOID:74, NCIT:C26323]
synonym: "blood dyscrasia" EXACT [DOID:74]
synonym: "blood dyscrasia NOS" RELATED EXCLUDE [DOID:74, MTHICD9_2006:289.9]
synonym: "disease of hematopoietic system" EXACT [DOID:74, MONDO:patterns/location_top]
synonym: "disease of the blood and blood-forming organs" EXACT [DOID:74, ICD9CM_2006:280-289.99]
synonym: "disease or disorder of hematopoietic system" EXACT []
synonym: "disorder of hematopoietic system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of hematopoietic system" RELATED [MONDO:patterns/location_top]
synonym: "hematologic and lymphocytic disorder" EXACT [NCIT:C26323]
synonym: "hematologic disorder" EXACT [NCIT:C26323]
synonym: "hematological disease" EXACT [DOID:74, MTH:NOCODE]
synonym: "hematological disorder" EXACT [MONDO:cjm, NCIT:C26323]
synonym: "hematological disorders and malignancies" RELATED [GTR:AN1320635]
synonym: "hematological system disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "hematopoietic disease" EXACT [DOID:74]
synonym: "hematopoietic system disease" EXACT [MONDO:patterns/location]
synonym: "hematopoietic system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rare hematologic disease" EXACT [MONDO:0020006]
xref: DOID:74 {source="MONDO:equivalentTo", source="EFO:0005803"}
xref: EFO:0005803 {source="MONDO:equivalentTo"}
xref: GTR:AN1320635 {source="UMLS:CN882913"}
xref: ICD10:D75.9 {source="DOID:74"}
xref: ICD9:280-289.99 {source="DOID:74"}
xref: ICD9:289.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:289.9 {source="DOID:74", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006402 {source="DOID:74", source="MONDO:equivalentTo", source="EFO:0005803", source="MONDO:ontobio"}
xref: NCIT:C26323 {source="DOID:74", source="MONDO:equivalentTo"}
xref: Orphanet:97992 {source="MONDO:equivalentTo"}
xref: SCTID:414022008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.89"}
xref: UMLS:C0018939 {source="DOID:74", source="MONDO:equivalentTo", source="NCIT:C26323"}
xref: UMLS:CN206939 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN882913 {source="MONDO:equivalentTo"}
is_a: MONDO:0021199 {source="DOID:74", source="MONDO:metaclass"} ! disease by anatomical system
relationship: has_modifier MONDO:0021136 ! rare
property_value: closeMatch http://identifiers.org/snomedct/154842002
property_value: closeMatch http://identifiers.org/snomedct/191124002
property_value: closeMatch http://identifiers.org/snomedct/191402006
property_value: closeMatch http://identifiers.org/snomedct/191446003
property_value: closeMatch http://identifiers.org/snomedct/267552000
property_value: closeMatch http://identifiers.org/snomedct/267573000
property_value: closeMatch http://identifiers.org/snomedct/34093004
property_value: exactMatch DOID:74
property_value: exactMatch http://identifiers.org/mesh/D006402
property_value: exactMatch http://identifiers.org/snomedct/414022008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN882913
property_value: exactMatch NCIT:C26323
property_value: exactMatch Orphanet:97992
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0005571
name: polycythemia (disease)
def: "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." [NCIT:C26863]
subset: ordo_group_of_disorders {source="Orphanet:98427"}
synonym: "erythrocythemia" EXACT [DOID:8432]
synonym: "polycythemia" EXACT [NCIT:C26863]
xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"}
xref: EFO:0005804 {source="MONDO:equivalentTo"}
xref: HP:0001901 {source="MONDO:otherHierarchy"}
xref: ICD10:D75.1 {source="DOID:8432"}
xref: MedDRA:10036051 {source="ORDO:98427/e", source="Orphanet:98427"}
xref: MESH:D011086 {source="ORDO:98427/e", source="MONDO:equivalentTo", source="Orphanet:98427", source="EFO:0005804", source="MONDO:ontobio", source="DOID:8432"}
xref: NCIT:C26863 {source="MONDO:equivalentTo", source="EFO:0005804", source="exact-label-match", source="DOID:8432"}
xref: Orphanet:98427 {source="MONDO:equivalentTo"}
xref: UMLS:C0032461 {source="ORDO:98427/e", source="MONDO:equivalentTo", source="NCIT:C26863", source="Orphanet:98427", source="DOID:8432"}
is_a: MONDO:0003225 {source="DOID:8432"} ! bone marrow disease
property_value: closeMatch http://identifiers.org/snomedct/109992005
property_value: closeMatch http://identifiers.org/snomedct/127062003
property_value: closeMatch http://identifiers.org/snomedct/165401000
property_value: closeMatch http://identifiers.org/snomedct/44865000
property_value: exactMatch DOID:8432
property_value: exactMatch http://identifiers.org/meddra/10036051
property_value: exactMatch http://identifiers.org/mesh/D011086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032461
property_value: exactMatch NCIT:C26863
property_value: exactMatch Orphanet:98427

[Term]
id: MONDO:0005572
name: polycythemia due to hypoxia
def: "Polycythemia resulting from hypoxia." [NCIT:P378]
xref: DOID:2835 {source="MONDO:equivalentTo", source="EFO:0005805"}
xref: EFO:0005805 {source="MONDO:equivalentTo"}
xref: NCIT:C27312 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2835", source="EFO:0005805"}
xref: UMLS:C0856818 {source="NCIT:C27312", source="MONDO:equivalentTo", source="DOID:2835"}
is_a: MONDO:0016541 ! acquired secondary polycythemia
property_value: exactMatch DOID:2835
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856818
property_value: exactMatch NCIT:C27312

[Term]
id: MONDO:0005573
name: obsolete type II hypersensitivity reaction disease
is_obsolete: true
replaced_by: MONDO:0007179

[Term]
id: MONDO:0005574
name: tauopathy
def: "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." [MESH:D024801]
xref: DOID:680 {source="MONDO:equivalentTo", source="EFO:0005815"}
xref: EFO:0005815 {source="MONDO:equivalentTo"}
xref: MESH:D024801 {source="MONDO:equivalentTo", source="DOID:680", source="MONDO:ontobio"}
xref: UMLS:C0949664 {source="MONDO:equivalentTo", source="DOID:680"}
is_a: MONDO:0005559 {source="DOID:680", source="EFO:0005815", source="MESH:D024801"} ! neurodegenerative disease
property_value: exactMatch DOID:680
property_value: exactMatch http://identifiers.org/mesh/D024801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949664

[Term]
id: MONDO:0005575
name: colorectal cancer
alt_id: MONDO:0003576
alt_id: MONDO:0021307
def: "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4978]
comment: Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent
subset: clingen
synonym: "cancer of colorectum" EXACT [MONDO:patterns/cancer]
synonym: "cancer of large bowel" EXACT [NCIT:C2955]
synonym: "cancer of large intestine" EXACT [NCIT:C2955]
synonym: "cancer of the large bowel" EXACT [NCIT:C2955]
synonym: "colon cancer" RELATED [OMIM:114500]
synonym: "colorectal cancer" EXACT [MONDO:Lexical, OMIM:114500]
synonym: "colorectal cancer; CRC" RELATED [OMIM:114500]
synonym: "colorectum cancer" EXACT [MONDO:patterns/location]
synonym: "CRC" RELATED [MONDO:Lexical, OMIM:114500]
synonym: "large intestine cancer" RELATED [DOID:5672]
synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978]
synonym: "malignant colorectal tumor" EXACT [NCIT:C4978]
synonym: "malignant colorectum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant large bowel neoplasm" EXACT [NCIT:C4978]
synonym: "malignant large bowel tumor" EXACT [NCIT:C4978]
synonym: "malignant large intestine neoplasm" EXACT [NCIT:C4978]
synonym: "malignant large intestine tumor" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of colorectum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of large bowel" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of large intestine" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of the large bowel" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of the large intestine" EXACT [NCIT:C4978]
synonym: "malignant tumor of large bowel" EXACT [NCIT:C4978]
synonym: "malignant tumor of large intestine" EXACT [NCIT:C4978]
synonym: "malignant tumor of the large bowel" EXACT [NCIT:C4978]
synonym: "malignant tumor of the large intestine" EXACT [NCIT:C4978]
xref: DOID:5672 {source="MONDO:equivalentTo"}
xref: DOID:9256 {source="EFO:0005842", source="MONDO:equivalentTo"}
xref: EFO:0005842 {source="MONDO:equivalentTo"}
xref: ICD10:C18.9 {source="DOID:5672"}
xref: KEGG:05210 {source="MONDO:equivalentTo", source="DOID:9256"}
xref: NCIT:C4978 {source="EFO:0005842", source="MONDO:equivalentTo", source="DOID:5672"}
xref: OMIM:114500 {source="MONDO:equivalentTo", source="DOID:9256"}
xref: SCTID:363510005 {source="MONDO:kboom-pr-0.84/0.67/0.08", source="MONDO:equivalentTo", source="DOID:5672"}
xref: UMLS:C1527249 {source="MONDO:equivalentTo", source="OMIM:114500", source="DOID:9256"}
is_a: MONDO:0005335 {source="MONDO:Redundant", source="MONDOLEX:0005575", source="NCIT:C4978"} ! colorectal neoplasm
is_a: MONDO:0005814 {source="DOID:5672", source="DOID:9256/inferred", source="MONDO:Redundant", source="MONDOLEX:0005575", source="NCIT:C4978", source="linkedlifedata"} ! intestinal cancer
property_value: closeMatch http://identifiers.org/snomedct/93854002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009402
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346629
property_value: exactMatch DOID:5672
property_value: exactMatch DOID:9256
property_value: exactMatch http://identifiers.org/omim/114500
property_value: exactMatch http://identifiers.org/snomedct/363510005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527249
property_value: exactMatch NCIT:C4978

[Term]
id: MONDO:0005576
name: cryoglobulinemia
def: "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease ); and/or cancers of the blood or immune system . Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." [https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia]
subset: gard_rare {source="GARD:0006217"}
synonym: "cryoglobulinemia" EXACT [DOID:2917, MTH:NOCODE]
synonym: "Cryoimmunoglobulinaemia" EXACT [DOID:2917]
xref: COHD:4149583 {source="MONDO:equivalentTo"}
xref: DOID:2917 {source="MONDO:equivalentTo", source="EFO:0005846"}
xref: EFO:0005846 {source="MONDO:equivalentTo"}
xref: GARD:0006217 {source="MONDO:equivalentTo"}
xref: ICD10:D89.1 {source="DOID:2917", source="MONDO:equivalentTo"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003449 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846", source="MONDO:ontobio"}
xref: NCIT:C26736 {source="DOID:2917", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0005846"}
xref: SCTID:30911005 {source="DOID:2917", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0005846"}
xref: UMLS:C0010403 {source="DOID:2917", source="MONDO:equivalentTo", source="NCIT:C26736"}
is_a: MONDO:0002459 {source="DOID:2917"} ! type IV hypersensitivity disease
property_value: exactMatch DOID:2917
property_value: exactMatch http://identifiers.org/mesh/D003449
property_value: exactMatch http://identifiers.org/snomedct/30911005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010403
property_value: exactMatch NCIT:C26736
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia xsd:anyURI {source="GARD:0006217"}

[Term]
id: MONDO:0005577
name: obsolete narcolepsy without cataplexy
is_obsolete: true
replaced_by: MONDO:0019371

[Term]
id: MONDO:0005578
name: arthritis
def: "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." [NCIT:C2883]
comment: Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory.
synonym: "arthritis" EXACT [CSP2005:2715-1134, DOID:848, NCIT:C2883]
synonym: "inflammation of skeletal joint" EXACT []
synonym: "inflammatory disorder of joint" NARROW [DOID:848]
synonym: "skeletal joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:4291025 {source="MONDO:equivalentTo"}
xref: DOID:848 {source="EFO:0005856", source="MONDO:equivalentTo"}
xref: EFO:0005856 {source="MONDO:equivalentTo"}
xref: ICD10:M19.90 {source="DOID:848"}
xref: MESH:D001168 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2883 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:3723001 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0003864 {source="DOID:848", source="MONDO:equivalentTo", source="NCIT:C2883"}
xref: Wikipedia:Arthritis {source="EFO:0005856"}
is_a: MONDO:0002614 {source="DOID:848", source="MONDO:Redundant"} ! bone inflammation disease
is_a: MONDO:0005554 {source="EFO:0005856"} ! rheumatologic disorder
is_a: MONDO:0006816 {source="MESH:D001168", source="MONDO:Redundant", source="NCIT:C2883", source="linkedlifedata"} ! arthropathy
is_a: MONDO:0021166 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/202059001
property_value: closeMatch http://identifiers.org/snomedct/363178003
property_value: closeMatch http://identifiers.org/snomedct/372091005
property_value: exactMatch DOID:848
property_value: exactMatch http://identifiers.org/mesh/D001168
property_value: exactMatch http://identifiers.org/snomedct/3723001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003864
property_value: exactMatch NCIT:C2883

[Term]
id: MONDO:0005579
name: epilepsy, idiopathic generalized
def: "A chronic condition characterised by recurrent generalised seizures." [NCIT:P378]
synonym: "EIG" EXACT [MONDO:cjm]
synonym: "epilepsy, idiopathic generalized" RELATED [MONDO:Lexical, OMIM:600669]
synonym: "epilepsy, idiopathic generalized; EIG" RELATED [OMIM:600669]
synonym: "generalised epilepsy" EXACT [DOID:1827]
synonym: "generalized epilepsy" EXACT [NCIT:C3021]
synonym: "idiopathic generalized epilepsy" RELATED [DOID:1827, OMIM:600669]
xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"}
xref: EFO:0005917 {source="MONDO:equivalentTo"}
xref: MESH:D004829 {source="MONDO:equivalentTo", source="DOID:1827"}
xref: NCIT:C3021 {source="MONDO:equivalentTo", source="DOID:1827"}
xref: OMIMPS:600669 {source="MONDO:equivalentTo"}
xref: SCTID:19598007 {source="MONDO:equivalentTo", source="DOID:1827"}
is_a: MONDO:0005027 {source="DOID:1827", source="EFO:0005917", source="MESH:D004829", source="NCIT:C3021", source="linkedlifedata"} ! epilepsy
property_value: closeMatch http://identifiers.org/snomedct/155038005
property_value: closeMatch http://identifiers.org/snomedct/155043003
property_value: closeMatch http://identifiers.org/snomedct/192989008
property_value: closeMatch http://identifiers.org/snomedct/192994008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014548
property_value: exactMatch DOID:1827
property_value: exactMatch http://identifiers.org/mesh/D004829
property_value: exactMatch http://identifiers.org/snomedct/19598007
property_value: exactMatch NCIT:C3021

[Term]
id: MONDO:0005580
name: esophageal squamous cell carcinoma
def: "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third." [Orphanet:99977]
subset: ordo_disease {source="Orphanet:99977"}
synonym: "ESCC" EXACT [NCIT:C4024, ONCOTREE:ESCC, Orphanet:99977]
synonym: "esophageal epidermoid carcinoma" EXACT [NCIT:C4024, Orphanet:99977]
synonym: "esophageal scc" EXACT [NCIT:C4024]
synonym: "esophageal squamous cell cancer" EXACT [NCIT:C4024]
synonym: "esophageal squamous cell carcinoma" EXACT [NCIT:C4024, Orphanet:99977]
synonym: "esophagus scc" EXACT [NCIT:C4024]
synonym: "esophagus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4024]
synonym: "scc of esophagus" EXACT [DOID:3748, NCIT:C4024]
synonym: "scc of the esophagus" EXACT [NCIT:C4024]
synonym: "squamous cell car. - esophagus" EXACT [NCIT:C4024]
synonym: "squamous cell carcinoma of esophagus" EXACT [DOID:3748, NCIT:C4024]
synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024]
xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"}
xref: EFO:0005922 {source="MONDO:equivalentTo"}
xref: ICD10:C15.0 {source="Orphanet:99977", source="ORDO:99977/btnt"}
xref: ICD10:C15.1 {source="Orphanet:99977", source="ORDO:99977/btnt"}
xref: ICD10:C15.3 {source="Orphanet:99977", source="ORDO:99977/btnt"}
xref: ICD10:C15.4 {source="Orphanet:99977", source="ORDO:99977/btnt"}
xref: MESH:C562729 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="MONDO:ontobio"}
xref: NCIT:C4024 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="exact-label-match"}
xref: ONCOTREE:ESCC {source="MONDO:equivalentTo"}
xref: Orphanet:99977 {source="MONDO:equivalentTo"}
xref: SCTID:276804009 {source="MONDO:equivalentTo", source="DOID:3748", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279626 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99977", source="EFO:0005922", source="MONDO:equivalentTo", source="NCIT:C4024", source="DOID:3748"}
is_a: MONDO:0005096 {source="DOID:3748", source="EFO:0005922", source="MESH:C562729", source="MONDO:Redundant", source="MONDOLEX:0005580", source="NCIT:C4024", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0019086 {source="DOID:3748", source="EFO:0005922", source="MONDO:Redundant", source="MONDOLEX:0005580", source="NCIT:C4024", source="Orphanet:99977", source="linkedlifedata"} ! carcinoma of esophagus
property_value: exactMatch DOID:3748
property_value: exactMatch http://identifiers.org/mesh/C562729
property_value: exactMatch http://identifiers.org/snomedct/276804009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279626
property_value: exactMatch NCIT:C4024
property_value: exactMatch Orphanet:99977

[Term]
id: MONDO:0005581
name: AVL induced bursal lymphoma
def: "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." [EFO:0005923]
xref: EFO:0005923 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0005923"} ! non-human animal disease

[Term]
id: MONDO:0005582
name: binge eating disorder
def: "Recurrent episodes of over-eating." [NCIT:C97162]
synonym: "binge eating" EXACT [NCIT:C97162]
synonym: "binge eating disorder" EXACT []
xref: EFO:0005924 {source="MONDO:equivalentTo"}
xref: MESH:D002032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97162 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0005924"}
xref: SCTID:439960005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005451 {source="EFO:0005924", source="NCIT:C97162", source="linkedlifedata"} ! eating disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006370
property_value: exactMatch http://identifiers.org/mesh/D002032
property_value: exactMatch http://identifiers.org/snomedct/439960005
property_value: exactMatch NCIT:C97162

[Term]
id: MONDO:0005583
name: non-human animal disease
def: "A disease that occurs in animals." [EFO:0005932]
synonym: "animal disease" EXACT [MESH:D000820]
synonym: "diseases, animal" EXACT [MESH:D000820]
xref: EFO:0005932 {source="MONDO:equivalentTo"}
xref: MESH:D000820 {source="MONDO:equivalentTo"}
xref: UMLS:C0003047 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000001 {source="EFO:0005932"} ! disease or disorder
relationship: never_in_taxon NCBITaxon:9606
property_value: exactMatch http://identifiers.org/mesh/D000820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003047

[Term]
id: MONDO:0005584
name: congenital left-sided heart lesions
def: "serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth" [EFO:0005938]
xref: EFO:0005938 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="EFO:0005938"} ! congenital heart malformation

[Term]
id: MONDO:0005585
name: chemotherapy-induced hypertension
def: "A form of hypertension that occurs as a direct result of chemotherapy treatment" [EFO:0005942]
xref: EFO:0005942 {source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="EFO:0005942"} ! hypertensive disorder

[Term]
id: MONDO:0005586
name: head and neck neoplasm
def: "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C3077]
synonym: "craniocervical region neoplasm" EXACT []
synonym: "craniocervical region neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "craniocervical region tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "head and neck neoplasm" EXACT [NCIT:C3077]
synonym: "head and neck neoplasm (excluding central nervous system)" EXACT [NCIT:C3077]
synonym: "head and neck tumor" EXACT [NCIT:C3077]
synonym: "neoplasm of craniocervical region" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of head and neck" EXACT [NCIT:C3077]
synonym: "neoplasm of the head and neck" EXACT [NCIT:C3077]
synonym: "tumor of craniocervical region" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of head and neck" EXACT [NCIT:C3077]
synonym: "tumor of the head and neck" EXACT [NCIT:C3077]
xref: EFO:0005950 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3077 {source="EFO:0005950", source="MONDO:equivalentTo"}
xref: ONCOTREE:HEADNECK {source="MONDO:equivalentTo"}
xref: SCTID:255055008 {source="MONDO:kboom-pr-0.89/0.75/0.46", source="EFO:0005950", source="MONDO:equivalentTo"}
xref: UMLS:C0018671 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3077", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0005586", source="NCIT:C3077/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
is_a: MONDO:0021059 {source="MONDO:Redundant", source="NCIT:C3077"} ! head or neck disease/disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0460004
property_value: closeMatch NCIT:C12418
property_value: exactMatch http://identifiers.org/snomedct/255055008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018671
property_value: exactMatch NCIT:C3077

[Term]
id: MONDO:0005587
name: obsolete non-Hodgkins lymphoma
is_obsolete: true
replaced_by: MONDO:0018908

[Term]
id: MONDO:0005588
name: chemotherapy-induced oral mucositis
def: "inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment" [EFO:0006313]
xref: EFO:0006313 {source="MONDO:equivalentTo"}
is_a: MONDO:0004842 ! stomatitis

[Term]
id: MONDO:0005589
name: thiopurine immunosuppressant-induced pancreatitis
def: "pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine" [EFO:0006315]
xref: EFO:0006315 {source="MONDO:equivalentTo"}
is_a: MONDO:0004982 {source="EFO:0006315"} ! pancreatitis

[Term]
id: MONDO:0005590
name: breast ductal adenocarcinoma
def: "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." [NCIT:C4017]
synonym: "breast ductal carcinoma" EXACT [MONDO:0002484]
synonym: "duct adenocarcinoma" BROAD [NCIT:C4017]
synonym: "duct carcinoma" BROAD [NCIT:C4017]
synonym: "duct carcinoma, NOS" RELATED EXCLUDE [DOID:3007]
synonym: "ductal adenocarcinoma" BROAD [NCIT:C4017]
synonym: "ductal breast adenocarcinoma" EXACT [MONDO:0005022]
synonym: "ductal breast carcinoma" EXACT [NCIT:C4017]
synonym: "ductal carcinoma" BROAD [NCIT:C4017]
synonym: "ductal carcinoma of breast" EXACT [NCIT:C4017]
synonym: "ductal carcinoma of the breast" EXACT [NCIT:C4017]
synonym: "mammary duct adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3007 {source="MONDO:equivalentTo"}
xref: EFO:0006318 {source="MONDO:equivalentTo"}
xref: MESH:D018270 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4017 {source="DesignPattern", source="MONDO:kboom-pr-0.92/0.83/0.15", source="EFO:0000430", source="EFO:0006318", source="MONDO:equivalentTo"}
is_a: MONDO:0004988 {source="MONDO:Redundant", source="MONDOLEX:0005590", source="NCIT:C4017"} ! breast adenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/D044584
property_value: closeMatch http://identifiers.org/snomedct/82711006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1176475
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527349
property_value: exactMatch DOID:3007
property_value: exactMatch http://identifiers.org/mesh/D018270
property_value: exactMatch NCIT:C4017

[Term]
id: MONDO:0005591
name: pit and fissure surface dental caries
xref: EFO:0006338 {source="MONDO:equivalentTo"}
xref: ICD9:521.06 {source="EFO:0006338"}
is_a: MONDO:0005276 {source="EFO:0006338"} ! dental caries

[Term]
id: MONDO:0005592
name: smooth surface dental caries
xref: EFO:0006339 {source="MONDO:equivalentTo"}
xref: ICD9:521.07 {source="EFO:0006339"}
is_a: MONDO:0005276 {source="EFO:0006339"} ! dental caries

[Term]
id: MONDO:0005593
name: chronic periodontitis
def: "A chronic inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
synonym: "periodontitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:138790 {source="MONDO:equivalentTo"}
xref: EFO:0006343 {source="MONDO:equivalentTo"}
xref: ICD10:K05.3 {source="MONDO:equivalentTo"}
xref: ICD9:523.4 {source="MONDO:equivalentTo", source="i2s", source="EFO:0006343"}
xref: ICD9:523.40 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D055113 {source="MONDO:equivalentTo", source="EFO:0006343"}
xref: NCIT:C35326 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.71/0.58", source="EFO:0006343"}
xref: SCTID:5689008 {source="MONDO:equivalentTo", source="EFO:0006343", source="MONDO:kboom-pr-0.92/0.68/1.61"}
is_a: MONDO:0005076 {source="EFO:0006343", source="MESH:D055113", source="MONDO:Redundant", source="NCIT:C35326", source="linkedlifedata"} ! periodontitis
property_value: exactMatch http://identifiers.org/mesh/D055113
property_value: exactMatch http://identifiers.org/snomedct/5689008
property_value: exactMatch NCIT:C35326

[Term]
id: MONDO:0005594
name: severe cutaneous adverse reaction
def: "A permanent mark left on the skin in the process of wound healing." [NCIT:P378]
synonym: "SCAR" EXACT [NCIT:C34483]
synonym: "Scar" EXACT [NCIT:C34483]
synonym: "scarring" EXACT [NCIT:C34483]
xref: EFO:0006346 {source="MONDO:equivalentTo"}
xref: MedDRA:20000020 {source="EFO:0006346"}
xref: NCIT:C34483 {source="EFO:0006346", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:275322007 {source="EFO:0006346", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="EFO:0006346"} ! skin disease
property_value: closeMatch http://identifiers.org/meddra/20000020
property_value: closeMatch http://identifiers.org/snomedct/12402003
property_value: exactMatch http://identifiers.org/snomedct/275322007
property_value: exactMatch NCIT:C34483

[Term]
id: MONDO:0005595
name: laryngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." [NCIT:C4044]
subset: ordo_disease
synonym: "epidermoid carcinoma of larynx" EXACT [NCIT:C4044]
synonym: "epidermoid carcinoma of the larynx" EXACT [DOID:2876, NCIT:C4044]
synonym: "laryngeal epidermoid carcinoma" EXACT [NCIT:C4044]
synonym: "laryngeal squamous cell carcinoma" EXACT [NCIT:C4044]
synonym: "laryngeal throat squamous cell cancer" EXACT [NCIT:C4044]
synonym: "larynx epidermoid carcinoma" EXACT [NCIT:C4044]
synonym: "larynx squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4044]
synonym: "LXSC" RELATED [ONCOTREE:LXSC]
synonym: "squamous cell carcinoma of larynx" EXACT [NCIT:C4044]
synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044]
xref: DOID:2876 {source="MONDO:equivalentTo", source="EFO:0006352"}
xref: EFO:0006352 {source="MONDO:equivalentTo"}
xref: NCIT:C4044 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2876", source="EFO:0006352", source="exact-label-match"}
xref: ONCOTREE:LXSC {source="MONDO:equivalentTo"}
xref: Orphanet:494550 {source="MONDO:equivalentTo"}
xref: SCTID:405822008 {source="MONDO:equivalentTo", source="DOID:2876", source="EFO:0006352", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0280324 {source="NCIT:C4044", source="MONDO:equivalentTo", source="DOID:2876"}
is_a: MONDO:0002358 {source="DOID:2876", source="MONDO:Redundant", source="MONDOLEX:0005595", source="NCIT:C4044"} ! laryngeal carcinoma
is_a: MONDO:0010150 {source="EFO:0006352", source="NCIT:C4044", source="ONCOTREE:LXSC", source="linkedlifedata"} ! head and neck squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0020035 {source="Orphanet:494550"} ! rare otorhinolaryngologic tumor
property_value: closeMatch http://identifiers.org/snomedct/707358000
property_value: exactMatch DOID:2876
property_value: exactMatch http://identifiers.org/snomedct/405822008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280324
property_value: exactMatch NCIT:C4044
property_value: exactMatch Orphanet:494550

[Term]
id: MONDO:0005596
name: cystadenocarcinoma
def: "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." [NCIT:C2971]
synonym: "cystadenocarcinoma" EXACT [NCIT:C2971]
synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3111]
synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3111]
synonym: "cystadenocarcinoma, malignant" EXACT [NCIT:C2971]
xref: DOID:3111 {source="MONDO:equivalentTo", source="EFO:0006387"}
xref: EFO:0006387 {source="MONDO:equivalentTo"}
xref: ICDO:8440/3 {source="NCIT:C2971"}
xref: MESH:D003536 {source="DOID:3111", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0006387"}
xref: NCIT:C2971 {source="DOID:3111", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006387"}
xref: UMLS:C0010631 {source="DOID:3111", source="MONDO:equivalentTo", source="NCIT:C2971"}
is_a: MONDO:0004970 {source="DOID:3111", source="EFO:0006387", source="MESH:D003536", source="MONDOLEX:0005596", source="NCIT:C2971"} ! adenocarcinoma
is_a: MONDO:0021077 {source="NCIT:C2971"} ! cystic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189681005
property_value: closeMatch http://identifiers.org/snomedct/21008007
property_value: exactMatch DOID:3111
property_value: exactMatch http://identifiers.org/mesh/D003536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010631
property_value: exactMatch NCIT:C2971

[Term]
id: MONDO:0005597
name: cystic renal cell carcinoma
def: "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." [EFO:0006388]
xref: EFO:0006388 {source="MONDO:equivalentTo"}
xref: PMID:3739121 {source="EFO:0006388"}
is_a: MONDO:0005086 {source="EFO:0006388", source="MONDOLEX:0005597"} ! renal cell carcinoma (disease)

[Term]
id: MONDO:0005598
name: dopaminergic neuroblastoma
def: "a neuroblastoma associated with increased dopamine excretion." [EFO:0006391]
xref: EFO:0006391 {source="MONDO:equivalentTo"}
xref: PMID:3385588 {source="EFO:0006391"}
is_a: MONDO:0005072 {source="EFO:0006391"} ! neuroblastoma

[Term]
id: MONDO:0005599
name: malignant epithelioid mesothelioma
def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." [NCIT:C7985]
synonym: "epithelial mesothelioma" EXACT [NCIT:C7985]
synonym: "epithelial mesothelioma" RELATED [NCIT:C7985]
synonym: "epithelioid mesothelioma" EXACT [NCIT:C7985]
synonym: "epithelioid mesothelioma, malignant" EXACT [DOID:4489]
synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [DOID:4489]
synonym: "malignant epithelial mesothelioma" EXACT [NCIT:C7985]
xref: DOID:4489 {source="MONDO:equivalentTo", source="EFO:0006452"}
xref: EFO:0006452 {source="MONDO:equivalentTo"}
xref: ICDO:9052/3 {source="NCIT:C7985"}
xref: NCIT:C7985 {source="MONDO:0021037", source="DOID:4489", source="MONDO:equivalentTo", source="EFO:0006452"}
xref: UMLS:C0862312 {source="DOID:4489", source="MONDO:equivalentTo", source="NCIT:C7985"}
is_a: MONDO:0006292 {source="DOID:4489", source="MONDOLEX:0005599", source="NCIT:C7985/inferred"} ! malignant mesothelioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/65278006
property_value: exactMatch DOID:4489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0862312
property_value: exactMatch NCIT:C7985

[Term]
id: MONDO:0005600
name: obsolete ovarian adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002752

[Term]
id: MONDO:0005601
name: ovarian mucinous adenocarcinoma
def: "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." [NCIT:C5243]
subset: ordo_disease {source="Orphanet:398961"}
synonym: "mucinous adenocarcinoma of ovary" EXACT [MONDO:0018366, NCIT:C5243]
synonym: "mucinous adenocarcinoma of the ovary" EXACT [NCIT:C5243]
synonym: "mucinous carcinoma of ovary" EXACT [DOID:3606, NCIT:C5243]
synonym: "mucinous carcinoma of the ovary" EXACT [NCIT:C5243]
synonym: "ovarian mucinous adenocarcinoma" EXACT [NCIT:C5243, Orphanet:398961]
synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243]
synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"}
xref: EFO:0006462 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="Orphanet:398961", source="ORDO:398961/ntbt"}
xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOID:3606"}
xref: Orphanet:398961 {source="MONDO:equivalentTo"}
xref: UMLS:C1335167 {source="NCIT:C5243", source="MONDO:equivalentTo", source="DOID:3606"}
xref: UMLS:CN205033 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002752 {source="DOID:3606", source="MONDO:Redundant", source="MONDOLEX:0005601", source="NCIT:C5243"} ! ovarian adenocarcinoma
is_a: MONDO:0004957 {source="EFO:0006462", source="MONDO:Redundant", source="MONDOLEX:0005601", source="NCIT:C5243"} ! mucinous adenocarcinoma
is_a: MONDO:0024282 {source="NCIT:C5243"} ! mucinous ovarian cancer
property_value: exactMatch DOID:3606
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205033
property_value: exactMatch NCIT:C5243
property_value: exactMatch Orphanet:398961

[Term]
id: MONDO:0005602
name: ovarian teratoma
def: "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C8110]
synonym: "germ cell teratoma of ovary" EXACT [DOID:5567, NCIT:C8110]
synonym: "germ cell teratoma of the ovary" EXACT [NCIT:C8110]
synonym: "ovarian germ cell teratoma" EXACT [NCIT:C8110]
synonym: "ovarian teratoma" EXACT [NCIT:C8110]
synonym: "teratoma of ovary" EXACT [NCIT:C8110]
synonym: "teratoma of the ovary" EXACT [NCIT:C8110]
xref: DOID:5567 {source="MONDO:equivalentTo", source="EFO:0006463"}
xref: EFO:0006463 {source="MONDO:equivalentTo"}
xref: NCIT:C8110 {source="DOID:5567", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006463"}
xref: SCTID:716077006 {source="MONDO:kboom-pr-0.88/0.75/0.16", source="MONDO:equivalentTo"}
xref: UMLS:C0280131 {source="NCIT:C8110", source="DOID:5567", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006233 {source="MONDO:Redundant", source="NCIT:C8110"} ! gonadal teratoma
is_a: MONDO:0011366 {source="DOID:5567", source="NCIT:C8110", source="linkedlifedata"} ! ovarian germ cell tumor
property_value: exactMatch DOID:5567
property_value: exactMatch http://identifiers.org/snomedct/716077006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280131
property_value: exactMatch NCIT:C8110

[Term]
id: MONDO:0005603
name: pancreatic tubular adenocarcinoma
def: "A tubular adenocarcinoma that involves the pancreas." [MONDO:patterns/location]
synonym: "pancreas tubular adenocarcinoma" EXACT [MONDO:patterns/location]
xref: EFO:0006471 {source="MONDO:equivalentTo"}
is_a: MONDO:0005606 {source="EFO:0006471", source="MONDO:Redundant", source="MONDOLEX:0005603"} ! tubular adenocarcinoma
is_a: MONDO:0006047 ! pancreatic adenocarcinoma

[Term]
id: MONDO:0005604
name: obsolete plasma cell leukemia
is_obsolete: true
replaced_by: MONDO:0018689

[Term]
id: MONDO:0005605
name: transitional cell papilloma
def: "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." [NCIT:C4115]
synonym: "papilloma, transitional cell, benign" EXACT [NCIT:C4115]
synonym: "transitional cell papilloma" EXACT [DOID:2670, NCIT:C4115]
synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [DOID:2670]
synonym: "transitional cell papilloma, benign" EXACT [DOID:2670]
synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [DOID:2670]
synonym: "transitional papilloma" EXACT [NCIT:C4115]
xref: DOID:2670 {source="MONDO:equivalentTo", source="EFO:0006497"}
xref: EFO:0006497 {source="MONDO:equivalentTo"}
xref: ICDO:8120/0 {source="NCIT:C4115"}
xref: NCIT:C4115 {source="DOID:2670", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006497"}
xref: UMLS:C0334266 {source="DOID:2670", source="MONDO:equivalentTo", source="NCIT:C4115"}
is_a: MONDO:0002363 {source="DOID:2670", source="MONDO:Redundant", source="NCIT:C4115"} ! papilloma
property_value: closeMatch http://identifiers.org/snomedct/189575005
property_value: closeMatch http://identifiers.org/snomedct/44342003
property_value: closeMatch http://identifiers.org/snomedct/45083001
property_value: exactMatch DOID:2670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334266
property_value: exactMatch NCIT:C4115

[Term]
id: MONDO:0005606
name: tubular adenocarcinoma
def: "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." [NCIT:C65192]
synonym: "carcinoma, tubular cell, malignant" EXACT [NCIT:C65192]
synonym: "tubular adenocarcinoma" EXACT [NCIT:C65192]
synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [DOID:4929]
synonym: "tubular carcinoma" EXACT [DOID:4929, NCIT:C3682]
xref: DOID:4929 {source="EFO:0006500", source="MONDO:equivalentTo"}
xref: EFO:0006500 {source="MONDO:equivalentTo"}
xref: ICDO:8211/3 {source="NCIT:C65192"}
xref: NCIT:C65192 {source="EFO:0006500", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4929"}
xref: UMLS:C0205645 {source="NCIT:C65192", source="MONDO:equivalentTo", source="DOID:4929"}
is_a: MONDO:0004970 {source="DOID:4929", source="EFO:0006500", source="MONDOLEX:0005606", source="NCIT:C65192"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/4631006
property_value: exactMatch DOID:4929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205645
property_value: exactMatch NCIT:C65192

[Term]
id: MONDO:0005607
name: chronic bronchitis
def: "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." [NCIT:C26722]
synonym: "bronchitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:255841 {source="MONDO:equivalentTo"}
xref: EFO:0006505 {source="MONDO:equivalentTo"}
xref: ICD9:491 {source="EFO:0006505"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:491.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26722 {source="EFO:0006505", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/12.43"}
xref: SCTID:63480004 {source="MONDO:kboom-pr-0.92/0.84/0.16", source="EFO:0006505", source="MONDO:equivalentTo"}
xref: UMLS:C0008677 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26722"}
is_a: MONDO:0003781 {source="MONDO:Redundant", source="NCIT:C26722", source="OWLReasoner:2017"} ! bronchitis
is_a: MONDO:0005002 {source="EFO:0006505", source="NCIT:C26722"} ! chronic obstructive pulmonary disease
property_value: exactMatch http://identifiers.org/snomedct/63480004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008677
property_value: exactMatch NCIT:C26722

[Term]
id: MONDO:0005608
name: varicella zoster infection
def: "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." [NCIT:C96407]
synonym: "varicella zoster infection" EXACT [NCIT:C96407]
synonym: "Varicella-zoster Virus infection" EXACT [NCIT:C96407]
xref: EFO:0006509 {source="MONDO:equivalentTo"}
xref: ICD9:052.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C96407 {source="MONDO:equivalentTo", source="EFO:0006509"}
xref: SCTID:309465005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0586989 {source="NCIT:C96407", source="MONDO:equivalentTo"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: exactMatch http://identifiers.org/snomedct/309465005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0586989
property_value: exactMatch NCIT:C96407

[Term]
id: MONDO:0005609
name: herpes zoster
def: "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." [NCIT:C71079]
synonym: "herpes zona" EXACT [CSP2005:3099-9793, DOID:8536]
synonym: "herpes Zoster" EXACT [NCIT:C71079]
synonym: "postherpetic neuralgia" RELATED []
synonym: "shingles" EXACT [DOID:8536, NCIT:C71079]
synonym: "Zoster" EXACT [NCIT:C71079]
xref: COHD:443943 {source="MONDO:equivalentTo"}
xref: DOID:8536 {source="EFO:0006510", source="MONDO:equivalentTo"}
xref: EFO:0006510 {source="MONDO:equivalentTo"}
xref: ICD10:B02 {source="DOID:8536", source="MONDO:equivalentTo"}
xref: ICD10:B02.9 {source="DOID:8536"}
xref: ICD9:053 {source="EFO:0006510", source="DOID:8536"}
xref: MESH:D006562 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C71079 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"}
xref: SCTID:4740000 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0019360 {source="DOID:8536", source="MONDO:equivalentTo", source="NCIT:C71079"}
is_a: MONDO:0005608 {source="EFO:0006510", source="MONDO:Redundant", source="NCIT:C71079", source="linkedlifedata"} ! varicella zoster infection
is_a: MONDO:0006617 ! vesiculobullous skin disease
is_a: MONDO:0021674 {source="MONDO:Redundant", source="linkedlifedata"} ! post-viral disorder
is_a: MONDO:0024294 ! skin disease caused by infection
relationship: disease_arises_from_feature MONDO:0005608 {source="EFO:0006510-isa"} ! varicella zoster infection
relationship: disease_causes_feature MONDO:0021677 ! post-infectious neuralgia
property_value: closeMatch http://identifiers.org/snomedct/154326002
property_value: closeMatch http://identifiers.org/snomedct/186514003
property_value: closeMatch http://identifiers.org/snomedct/186533008
property_value: exactMatch DOID:8536
property_value: exactMatch http://identifiers.org/mesh/D006562
property_value: exactMatch http://identifiers.org/snomedct/4740000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019360
property_value: exactMatch NCIT:C71079

[Term]
id: MONDO:0005610
name: Kashin-Beck disease
def: "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767]
xref: EFO:0006511 {source="MONDO:equivalentTo"}
xref: ICD9:716.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:716.06 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:716.08 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D057767 {source="EFO:0006511", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:270505009 {source="MONDO:kboom-pr-1.00/0.77/6.20", source="MONDO:equivalentTo"}
xref: UMLS:C2745963 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="EFO:0006511", source="MESH:D057767"} ! osteochondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/D057767
property_value: exactMatch http://identifiers.org/snomedct/270505009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745963

[Term]
id: MONDO:0005611
name: bladder transitional cell carcinoma
def: "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." [NCIT:P378]
synonym: "bladder transitional cell carcinoma" EXACT [DOID:4006, NCIT:C39851]
synonym: "bladder urothelial cancer" EXACT [NCIT:C39851]
synonym: "bladder urothelial carcinoma" EXACT [NCIT:C39851]
synonym: "BLCA" RELATED [ONCOTREE:BLCA]
synonym: "transitional cell carcinoma of bladder" EXACT [DOID:4006]
synonym: "transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C39851]
synonym: "urinary bladder transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C39851]
synonym: "urinary bladder urothelial carcinoma" EXACT [DOID:4006, NCIT:C39851]
synonym: "urothelial bladder carcinoma" EXACT [DOID:4006]
synonym: "urothelial carcinoma of the urinary bladder" EXACT [NCIT:C39851]
xref: DOID:4006 {source="EFO:0006544", source="MONDO:equivalentTo"}
xref: EFO:0006544 {source="MONDO:equivalentTo"}
xref: NCIT:C39851 {source="EFO:0006544", source="DOID:4006", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:BLCA {source="MONDO:equivalentTo"}
xref: SCTID:255109008 {source="DOID:4006", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279680 {source="EFO:0006544", source="DOID:4006", source="NCIT:C39851", source="MONDO:equivalentTo"}
is_a: MONDO:0004986 {source="DOID:4006", source="EFO:0006544", source="MONDO:Redundant", source="MONDOLEX:0005611", source="NCIT:C39851", source="linkedlifedata"} ! urinary bladder carcinoma
is_a: MONDO:0040679 ! urothelial carcinoma
property_value: closeMatch http://identifiers.org/snomedct/393562002
property_value: exactMatch DOID:4006
property_value: exactMatch http://identifiers.org/snomedct/255109008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279680
property_value: exactMatch NCIT:C39851

[Term]
id: MONDO:0005612
name: obsolete ovarian leiomyosarcoma
is_obsolete: true
replaced_by: MONDO:0003355

[Term]
id: MONDO:0005613
name: mesonephric adenocarcinoma
def: "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." [NCIT:C4072]
synonym: "malignant Mesonephroma" EXACT [NCIT:C4072]
xref: EFO:0006719 {source="MONDO:equivalentTo"}
xref: ICDO:9110/3 {source="NCIT:C4072"}
xref: NCIT:C4072 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.21", source="EFO:0006719"}
is_a: MONDO:0004970 {source="EFO:0006719", source="MONDOLEX:0005613", source="NCIT:C4072"} ! adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025490
property_value: exactMatch NCIT:C4072

[Term]
id: MONDO:0005614
name: pancreatic adenosquamous carcinoma
def: "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." [NCIT:C5721]
synonym: "adenosquamous carcinoma of pancreas" EXACT [DOID:5637, NCIT:C5721]
synonym: "adenosquamous carcinoma of the pancreas" EXACT [DOID:5637, NCIT:C5721]
synonym: "adenosquamous pancreas carcinoma" EXACT [MONDO:0003560]
synonym: "PAASC" RELATED [ONCOTREE:PAASC]
synonym: "pancreas adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic adenoacanthoma" EXACT [NCIT:C5721]
synonym: "pancreatic adenosquamous cancer" EXACT [NCIT:C5721]
synonym: "pancreatic adenosquamous carcinoma" EXACT [NCIT:C5721]
synonym: "pancreatic mixed squamous and adenocarcinoma" EXACT [NCIT:C5721]
synonym: "pancreatic mucoepidermoid carcinoma" EXACT [NCIT:C5721]
xref: DOID:5637 {source="MONDO:equivalentTo"}
xref: EFO:0006732 {source="MONDO:equivalentTo"}
xref: NCIT:C5721 {source="EFO:0006732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/12.43", source="DOID:5637"}
xref: ONCOTREE:PAASC {source="MONDO:equivalentTo"}
xref: UMLS:C1335299 {source="MONDO:equivalentTo", source="NCIT:C5721", source="DOID:5637"}
is_a: MONDO:0006074 {source="DOID:5637", source="MONDO:Redundant", source="MONDOLEX:0005614", source="NCIT:C5721"} ! adenosquamous carcinoma
is_a: MONDO:0018521 ! squamous cell carcinoma of pancreas
relationship: excluded_subClassOf MONDO:0005184 {source="DOID:5637"} ! pancreatic ductal adenocarcinoma
property_value: exactMatch DOID:5637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335299
property_value: exactMatch NCIT:C5721

[Term]
id: MONDO:0005615
name: plasmacytoma
def: "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." [Orphanet:86855]
comment: alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. {source="EFO:0006738"}
subset: ordo_disease {source="Orphanet:86855"}
synonym: "anaplastic plasmacytoma" RELATED [GARD:0007404]
synonym: "anaplastic skeletal plasmacytoma (type)" RELATED [GARD:0007404]
synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum (type)" RELATED [GARD:0007404]
synonym: "extramedullary anaplastic plasmacytoma (type)" RELATED [GARD:0007404]
synonym: "myeloma - solitary" RELATED [DOID:3721]
synonym: "myeloma, solitary" RELATED [DOID:3721]
synonym: "plasmacytoma" EXACT [NCIT:C9349]
synonym: "solitary myeloma" RELATED [DOID:3721, MTHICD9_2006:238.6]
synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855]
xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"}
xref: EFO:0006738 {source="MONDO:equivalentTo"}
xref: GARD:0007404 {source="MONDO:equivalentTo"}
xref: ICD10:C90.2 {source="MONDO:superClassOf", source="Orphanet:86855", source="ORDO:86855/btnt"}
xref: ICD10:C90.3 {source="DOID:3721", source="Orphanet:86855", source="ORDO:86855/btnt"}
xref: ICD10:C90.30 {source="DOID:3721"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9731/3 {source="NCIT:C9349"}
xref: MedDRA:10035484 {source="ORDO:86855/e", source="Orphanet:86855"}
xref: MESH:D010954 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"}
xref: NCIT:C9349 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"}
xref: Orphanet:86855 {source="MONDO:equivalentTo"}
xref: SCTID:415112005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3721", source="EFO:0006738"}
xref: UMLS:C0032131 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="NCIT:C9349", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"}
is_a: MONDO:0004959 {source="DOID:3721", source="EFO:0006738", source="MESH:D010954", source="NCIT:C9349", source="Orphanet:86855", source="linkedlifedata", source="linkedlifedata/inferred"} ! plasma cell neoplasm
is_a: MONDO:0016180 {source="Orphanet:86855"} ! hematological disease associated with an acquired peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/10639003
property_value: closeMatch http://identifiers.org/snomedct/109987008
property_value: closeMatch http://identifiers.org/snomedct/154644004
property_value: closeMatch http://identifiers.org/snomedct/188719003
property_value: closeMatch http://identifiers.org/snomedct/188720009
property_value: closeMatch http://identifiers.org/snomedct/189507001
property_value: closeMatch http://identifiers.org/snomedct/190016004
property_value: closeMatch http://identifiers.org/snomedct/190017008
property_value: closeMatch http://identifiers.org/snomedct/190019006
property_value: closeMatch http://identifiers.org/snomedct/269652000
property_value: closeMatch http://identifiers.org/snomedct/274907000
property_value: closeMatch http://identifiers.org/snomedct/302852008
property_value: closeMatch http://identifiers.org/snomedct/308122007
property_value: closeMatch NCIT:C6932
property_value: exactMatch DOID:3721
property_value: exactMatch http://identifiers.org/meddra/10035484
property_value: exactMatch http://identifiers.org/mesh/D010954
property_value: exactMatch http://identifiers.org/snomedct/415112005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032131
property_value: exactMatch NCIT:C9349
property_value: exactMatch Orphanet:86855

[Term]
id: MONDO:0005616
name: pulmonary mucoepidermoid carcinoma
def: "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." [NCIT:C45544]
synonym: "lung mucoepidermoid cancer" EXACT [NCIT:C45544]
synonym: "lung mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45544]
synonym: "mucoepidermoid carcinoma of the lung" RELATED [ONCOTREE:LUMEC]
xref: DOID:0050932 {source="EFO:0006740", source="MONDO:equivalentTo"}
xref: EFO:0006740 {source="MONDO:equivalentTo"}
xref: NCIT:C45544 {source="EFO:0006740", source="MONDO:equivalentTo"}
xref: ONCOTREE:LUMEC {source="MONDO:equivalentTo"}
xref: UMLS:C1708778 {source="EFO:0006740", source="MONDO:equivalentTo", source="NCIT:C45544"}
is_a: MONDO:0003036 {source="DOID:0050932", source="MONDO:Redundant", source="MONDOLEX:0005616", source="NCIT:C45544"} ! mucoepidermoid carcinoma
is_a: MONDO:0027772 ! lung colloid adenocarcinoma
property_value: exactMatch DOID:0050932
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708778
property_value: exactMatch NCIT:C45544

[Term]
id: MONDO:0005617
name: undifferentiated carcinoma
def: "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." [NCIT:C3692]
synonym: "anaplastic carcinoma" EXACT [NCIT:C3692]
synonym: "carcinoma, undifferentiated" EXACT [NCIT:C3692]
synonym: "carcinoma, undifferentiated, malignant" EXACT [NCIT:C3692]
synonym: "undifferentiated carcinoma" EXACT [NCIT:C3692]
xref: EFO:0006772 {source="MONDO:equivalentTo"}
xref: ICDO:8020/3 {source="NCIT:C3692"}
xref: ICDO:8021/3 {source="NCIT:C3692"}
xref: NCIT:C3692 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0006772"}
xref: UMLS:C0205698 {source="NCIT:C3692", source="MONDO:equivalentTo", source="EFO:0006772"}
is_a: MONDO:0004993 {source="EFO:0006772", source="MONDOLEX:0005617", source="NCIT:C3692"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/38549000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205698
property_value: exactMatch NCIT:C3692

[Term]
id: MONDO:0005618
name: anxiety disorder
def: "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." [NCIT:C2878]
synonym: "anxiety" EXACT [DOID:2030, NCIT:C2878]
synonym: "anxiety disorder" EXACT [NCIT:C2878]
synonym: "anxiety state" EXACT [DOID:2030]
xref: COHD:442077 {source="MONDO:equivalentTo"}
xref: DOID:2030 {source="EFO:0006788", source="MONDO:equivalentTo"}
xref: EFO:0006788 {source="MONDO:equivalentTo"}
xref: ICD10:F41.9 {source="DOID:2030"}
xref: ICD9:300.09 {source="DOID:2030"}
xref: MESH:D001008 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2030"}
xref: NCIT:C2878 {source="EFO:0006788", source="MONDO:equivalentTo", source="DOID:2030"}
xref: SCTID:197480006 {source="EFO:0006788", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2030"}
is_a: MONDO:0005084 {source="EFO:0006788", source="linkedlifedata"} ! mental disorder
property_value: closeMatch http://identifiers.org/snomedct/191703000
property_value: closeMatch http://identifiers.org/snomedct/192405006
property_value: closeMatch http://identifiers.org/snomedct/65673007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003469
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154455
property_value: exactMatch DOID:2030
property_value: exactMatch http://identifiers.org/mesh/D001008
property_value: exactMatch http://identifiers.org/snomedct/197480006
property_value: exactMatch NCIT:C2878

[Term]
id: MONDO:0005619
name: typhoid fever
alt_id: MONDO:0020486
def: "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." [NCIT:P378]
subset: ordo_disease {source="Orphanet:99745"}
synonym: "typhoid" EXACT [DOID:13258]
synonym: "typhoid fever" EXACT [Orphanet:99745]
synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745]
xref: COHD:192819 {source="MONDO:equivalentTo"}
xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"}
xref: EFO:0006789 {source="MONDO:equivalentTo"}
xref: GARD:0009564 {source="MONDO:equivalentTo"}
xref: ICD10:A01.0 {source="ORDO:99745/e", source="Orphanet:99745", source="DOID:13258"}
xref: ICD10:A01.00 {source="DOID:13258"}
xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="i2s", source="DOID:13258"}
xref: MESH:D014435 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"}
xref: NCIT:C35089 {source="EFO:0006789", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.11", source="DOID:13258"}
xref: Orphanet:99745 {source="MONDO:equivalentTo"}
xref: SCTID:4834000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"}
xref: UMLS:C0041466 {source="NCIT:C35089", source="Orphanet:99745", source="MONDO:equivalentTo", source="DOID:13258"}
is_a: MONDO:0000827 {source="Orphanet:99745"} ! salmonellosis
relationship: disease_has_feature MONDO:0002203 {source="Wikidata"} ! constipation disorder
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
relationship: disease_has_feature MONDO:0006807 {source="Wikidata"} ! intestinal perforation
property_value: closeMatch http://identifiers.org/snomedct/154270009
property_value: closeMatch http://identifiers.org/snomedct/186091002
property_value: closeMatch http://identifiers.org/snomedct/266174006
property_value: exactMatch DOID:13258
property_value: exactMatch http://identifiers.org/mesh/D014435
property_value: exactMatch http://identifiers.org/snomedct/4834000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041466
property_value: exactMatch NCIT:C35089
property_value: exactMatch Orphanet:99745

[Term]
id: MONDO:0005620
name: cerebral amyloid angiopathy
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." [Orphanet:85458]
subset: ordo_disease {source="Orphanet:85458"}
synonym: "CAA, familial" RELATED [GARD:0010266]
synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266]
synonym: "cerebral amyloid angiopathy, genetic" RELATED [GARD:0010266]
synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [DOID:9246]
synonym: "HCHWA" EXACT [Orphanet:85458]
synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246]
xref: COHD:4045749 {source="MONDO:equivalentTo"}
xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"}
xref: EFO:0006790 {source="MONDO:equivalentTo"}
xref: GARD:0010266 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E85.4+ {source="Orphanet:85458", source="ORDO:85458/attributed", source="ORDO:85458/ntbt"}
xref: ICD10:I68.0 {source="MONDO:equivalentTo"}
xref: ICD10:I68.0* {source="Orphanet:85458", source="ORDO:85458/attributed", source="ORDO:85458/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016657 {source="MONDO:equivalentTo", source="EFO:0006790", source="MONDO:ontobio"}
xref: NCIT:C84625 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0006790"}
xref: Orphanet:85458 {source="MONDO:equivalentTo", source="DOID:9246"}
xref: SCTID:230724001 {source="MONDO:kboom-pr-0.88/0.74/0.21", source="MONDO:equivalentTo", source="EFO:0006790"}
is_a: MONDO:0011057 {source="EFO:0006790", source="ICD10:I68.0/inferred", source="MESH:D016657/inferred", source="NCIT:C84625", source="Orphanet:85458/inferred", source="linkedlifedata"} ! cerebrovascular disorder
is_a: MONDO:0018634 {source="Orphanet:85458"} ! hereditary amyloidosis
is_a: MONDO:0018787 {source="Orphanet:85458"} ! genetic cerebral small vessel disease
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0020144 {source="Orphanet:85458"} ! cerebrovascular dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085220
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510489
property_value: exactMatch DOID:9246
property_value: exactMatch http://identifiers.org/mesh/D016657
property_value: exactMatch http://identifiers.org/snomedct/230724001
property_value: exactMatch NCIT:C84625
property_value: exactMatch Orphanet:85458

[Term]
id: MONDO:0005621
name: vascular brain injury
def: "damage to the blood vessels of the brain" [EFO:0006791]
synonym: "Brain injury, Vascular" RELATED [MESH:D020214]
synonym: "Brain Vascular injury" RELATED [MESH:D020214]
synonym: "Brain Vascular trauma" RELATED [MESH:D020214]
synonym: "injury, Brain Vascular" RELATED [MESH:D020214]
synonym: "injury, Vascular Brain" RELATED [MESH:D020214]
synonym: "injury, Vascular, Brain" RELATED [MESH:D020214]
synonym: "trauma, Brain Vascular" RELATED [MESH:D020214]
synonym: "trauma, cerebrovascular" RELATED [MESH:D020214]
synonym: "Vascular Brain Injuries" RELATED [MESH:D020214]
synonym: "Vascular Brain injury" RELATED [MESH:D020214]
synonym: "Vascular injury, Brain" RELATED [MESH:D020214]
synonym: "Vascular trauma, Brain" RELATED [MESH:D020214]
synonym: "Vascular Traumas, Brain" RELATED [MESH:D020214]
xref: EFO:0006791 {source="MONDO:equivalentTo"}
xref: MESH:D020214 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0011057 {source="MESH:D020214"} ! cerebrovascular disorder
is_a: MONDO:0043510 ! brain injury
property_value: exactMatch http://identifiers.org/mesh/D020214

[Term]
id: MONDO:0005622
name: obsolete vasculitis
is_obsolete: true
replaced_by: MONDO:0018882

[Term]
id: MONDO:0005623
name: autoimmune thyroid disease
def: "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." [MESH:D013967]
comment: Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) {source="EFO:0006812"}
synonym: "autoimmune thyroid gland inflammation" EXACT []
synonym: "autoimmune thyroiditides" RELATED [MESH:D013967]
synonym: "autoimmune thyroiditis" RELATED [MESH:D013967]
synonym: "lymphocytic thyroiditides" RELATED [MESH:D013967]
synonym: "lymphocytic thyroiditis" RELATED [MESH:D013967]
synonym: "lymphomatous thyroiditides" RELATED [MESH:D013967]
synonym: "lymphomatous thyroiditis" RELATED [MESH:D013967]
synonym: "thyroiditides, autoimmune" RELATED [MESH:D013967]
synonym: "thyroiditides, lymphocytic" RELATED [MESH:D013967]
synonym: "thyroiditides, lymphomatous" RELATED [MESH:D013967]
synonym: "thyroiditis, lymphocytic" RELATED [MESH:D013967]
synonym: "thyroiditis, lymphomatous" RELATED [MESH:D013967]
xref: EFO:0006812 {source="MONDO:equivalentTo"}
xref: GARD:0006945 {source="MONDO:equivalentTo"}
xref: MESH:D013967 {source="MONDO:equivalentTo", source="EFO:0006812"}
xref: Wikipedia:Autoimmune_thyroiditis {source="EFO:0006812"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0004126 {source="MESH:D013967", source="MONDO:Redundant"} ! thyroiditis (disease)
property_value: closeMatch http://identifiers.org/snomedct/66944004
property_value: exactMatch http://identifiers.org/mesh/D013967

[Term]
id: MONDO:0005624
name: atrophic thyroiditis
def: "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." [doi:10.1007/978-1-60327-285-8_42]
comment: It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient
xref: EFO:0006813 {source="MONDO:equivalentTo"}
xref: SCTID:83664006 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo"}
xref: UMLS:C0238183 {source="MONDO:equivalentTo"}
is_a: MONDO:0005623 {source="EFO:0006813"} ! autoimmune thyroid disease
property_value: exactMatch http://identifiers.org/snomedct/83664006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238183

[Term]
id: MONDO:0005625
name: cerebral malaria
def: "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." [NCIT:C128373]
synonym: "malarial encephalitis" EXACT [DOID:14069]
xref: DOID:14069 {source="EFO:0006857", source="MONDO:equivalentTo"}
xref: EFO:0006857 {source="MONDO:equivalentTo"}
xref: ICD10:B50.0 {source="DOID:14069"}
xref: ICD9:084.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016779 {source="MONDO:equivalentTo", source="DOID:14069", source="MONDO:ontobio"}
xref: NCIT:C128373 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:53622003 {source="EFO:0006857", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:14069"}
xref: UMLS:C0024534 {source="NCIT:C128373", source="MONDO:equivalentTo", source="DOID:14069"}
xref: Wikipedia:Malaria {source="EFO:0006857"}
is_a: MONDO:0005136 {source="DOID:14069", source="EFO:0006857", source="MESH:D016779", source="MONDO:Redundant", source="NCIT:C128373", source="linkedlifedata"} ! malaria
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: closeMatch http://identifiers.org/snomedct/186799006
property_value: exactMatch DOID:14069
property_value: exactMatch http://identifiers.org/mesh/D016779
property_value: exactMatch http://identifiers.org/snomedct/53622003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024534
property_value: exactMatch NCIT:C128373

[Term]
id: MONDO:0005626
name: epithelial neoplasm
def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." [NCIT:C3709]
synonym: "epithelial neoplasm" EXACT [NCIT:C3709]
synonym: "epithelial neoplasms, NOS" RELATED EXCLUDE [NCIT:C3709]
synonym: "epithelioma" EXACT [NCIT:C3709]
xref: EFO:0006858 {source="MONDO:equivalentTo"}
xref: MESH:D009375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3709 {source="MONDO:equivalentTo", source="EFO:0006858"}
is_a: MONDO:0005070 {source="EFO:0006858", source="MESH:D009375/inferred", source="MONDO:Redundant", source="MONDOLEX:0005626", source="NCIT:C3709/inferred"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/118285006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368683
property_value: exactMatch http://identifiers.org/mesh/D009375
property_value: exactMatch NCIT:C3709

[Term]
id: MONDO:0005627
name: head and neck cancer
def: "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C4013]
synonym: "cancer of craniocervical region" EXACT [MONDO:patterns/cancer]
synonym: "cancer of head and neck" EXACT [NCIT:C4013]
synonym: "cancer of the head and neck" EXACT [NCIT:C4013]
synonym: "craniocervical region cancer" EXACT [MONDO:patterns/location]
synonym: "head and neck cancer" EXACT [NCIT:C4013]
synonym: "head and neck cancer, NOS" RELATED EXCLUDE [NCIT:C4013]
synonym: "head and neck malignant neoplasia" EXACT [MONDO:patterns/cancer]
synonym: "head and neck neoplasm" EXACT [DOID:11934, MTH:NOCODE]
synonym: "head and neck tumours" EXACT [DOID:11934]
synonym: "head/neck neoplasm" EXACT [CSP2005:2005-4325, DOID:11934]
synonym: "malignant craniocervical region neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant head and neck neoplasm" EXACT [NCIT:C4013]
synonym: "malignant head and neck tumor" EXACT [NCIT:C4013]
synonym: "malignant neoplasm of craniocervical region" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of head and neck" EXACT [NCIT:C4013]
synonym: "malignant neoplasm of the head and neck" EXACT [NCIT:C4013]
synonym: "malignant tumor of head and neck" EXACT [NCIT:C4013]
synonym: "malignant tumor of the head and neck" EXACT [NCIT:C4013]
synonym: "tumor of head and neck" EXACT EXCLUDE [DOID:11934]
xref: DOID:11934 {source="MONDO:equivalentTo", source="EFO:0006859"}
xref: EFO:0006859 {source="MONDO:equivalentTo"}
xref: NCIT:C4013 {source="MONDO:equivalentTo", source="EFO:0006859"}
xref: UMLS:C0278996 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4013"}
is_a: MONDO:0004992 {source="DOID:11934", source="DOID:11934/inferred", source="MONDO:Redundant", source="MONDOLEX:0005627"} ! cancer
is_a: MONDO:0005586 {source="EFO:0006859", source="MONDO:Redundant", source="MONDOLEX:0005627", source="NCIT:C4013"} ! head and neck neoplasm
property_value: closeMatch http://identifiers.org/mesh/D006258
property_value: closeMatch http://identifiers.org/snomedct/255056009
property_value: exactMatch DOID:11934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278996
property_value: exactMatch NCIT:C4013

[Term]
id: MONDO:0005628
name: male breast carcinoma
def: "A malignant neoplasm involving the male breast." [MONDO:DesignPattern]
synonym: "breast cancer in men" RELATED [GARD:0009312]
synonym: "breast cancer, male" RELATED [GARD:0009312]
synonym: "carcinoma of Male breast" EXACT [NCIT:C3862]
synonym: "carcinoma of male breast" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Male breast" EXACT [NCIT:C3862]
synonym: "Male breast cancer" EXACT [NCIT:C3862]
synonym: "male breast cancer" EXACT [NCIT:C3862]
synonym: "Male breast carcinoma" EXACT [NCIT:C3862]
synonym: "male breast carcinoma" EXACT [MONDO:patterns/location]
synonym: "malignant neoplasm of male breast" EXACT [DOID:1614]
synonym: "neoplasm of male breast" EXACT [DOID:1614]
xref: DOID:1614 {source="EFO:0006861", source="MONDO:equivalentTo"}
xref: EFO:0006861 {source="MONDO:equivalentTo"}
xref: GARD:0009312 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:175.9 {source="MONDO:relatedTo", source="i2s", source="DOID:1614"}
xref: MESH:D018567 {source="MONDO:equivalentTo", source="DOID:1614", source="MONDO:ontobio"}
xref: NCIT:C3862 {source="EFO:0006861", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:372095001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.69/0.77"}
xref: UMLS:C0238033 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3862"}
xref: UMLS:C0242787 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0242788 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1614"}
is_a: MONDO:0004989 {source="EFO:0006861", source="MONDO:Redundant", source="MONDOLEX:0005628", source="NCIT:C3862"} ! breast carcinoma
property_value: closeMatch http://identifiers.org/snomedct/126937006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153559
property_value: exactMatch DOID:1614
property_value: exactMatch http://identifiers.org/mesh/D018567
property_value: exactMatch http://identifiers.org/snomedct/372095001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242788
property_value: exactMatch NCIT:C3862

[Term]
id: MONDO:0005629
name: Acanthamoeba keratitis
def: "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." [NCIT:C50450]
subset: gard_rare {source="GARD:0009285"}
subset: ordo_disease {source="Orphanet:67043"}
synonym: "Acanthamoeba caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450]
xref: EFO:0007126 {source="MONDO:equivalentTo"}
xref: GARD:0009285 {source="MONDO:equivalentTo"}
xref: ICD10:B60.1+ {source="ORDO:67043/ntbt", source="Orphanet:67043"}
xref: ICD10:H19.2* {source="ORDO:67043/ntbt", source="Orphanet:67043"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069408 {source="ORDO:67043/e", source="Orphanet:67043"}
xref: MESH:D015823 {source="EFO:0007126", source="MONDO:equivalentTo", source="ORDO:67043/e", source="MONDO:ontobio", source="Orphanet:67043"}
xref: NCIT:C50450 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:67043 {source="MONDO:equivalentTo"}
xref: SCTID:231896005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0000880 {source="MONDO:equivalentTo", source="ORDO:67043/e", source="NCIT:C50450", source="Orphanet:67043"}
is_a: MONDO:0002428 {source="MESH:D015823/inferred", source="NCIT:C50450"} ! protozoa infectious disease
is_a: MONDO:0021747 ! Acanthamoeba infectious disease
is_a: MONDO:0023865 ! corneal infection
is_a: MONDO:0024315 ! parasitic endophthalmitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch DOID:11896
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033129
property_value: exactMatch http://identifiers.org/meddra/10069408
property_value: exactMatch http://identifiers.org/mesh/D015823
property_value: exactMatch http://identifiers.org/snomedct/231896005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000880
property_value: exactMatch NCIT:C50450
property_value: exactMatch Orphanet:67043
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis xsd:anyURI {source="GARD:0009285"}

[Term]
id: MONDO:0005630
name: actinobacillosis
def: "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." [MESH:D000187]
synonym: "actinobacillosis, NOS" RELATED EXCLUDE [DOID:4974]
xref: DOID:4974 {source="EFO:0007127", source="MONDO:equivalentTo"}
xref: EFO:0007127 {source="MONDO:equivalentTo"}
xref: MESH:D000187 {source="EFO:0007127", source="DOID:4974", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:16140007 {source="DOID:4974", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.25"}
xref: UMLS:C0001247 {source="DOID:4974", source="MONDO:equivalentTo"}
is_a: MONDO:0000315 {source="DOID:4974"} ! commensal bacterial infectious disease
is_a: MONDO:0005583 {source="MESH:D000187"} ! non-human animal disease
is_a: MONDO:0006636 {source="MESH:D000187", source="MONDO:Redundant"} ! Actinobacillus infectious disease
property_value: exactMatch DOID:4974
property_value: exactMatch http://identifiers.org/mesh/D000187
property_value: exactMatch http://identifiers.org/snomedct/16140007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001247

[Term]
id: MONDO:0005631
name: actinomycosis
def: "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck.It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa .The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." [https://rarediseases.info.nih.gov/diseases/5728/actinomycosis]
subset: gard_rare {source="GARD:0005728"}
subset: ordo_disease {source="Orphanet:457095"}
synonym: "Actinomyces infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Actinomyces israeli" RELATED [GARD:0005728]
synonym: "Actinomycetes" RELATED [GARD:0005728]
synonym: "actinomycetoma" RELATED [DOID:8478]
synonym: "actinomycotic infection" EXACT EXCLUDE [DOID:8478]
synonym: "actinomycotic madura foot" EXACT [DOID:8478]
synonym: "actinomycotic mycetema" EXACT [DOID:8478]
synonym: "actinomycotic mycetoma of foot" EXACT [DOID:8478]
synonym: "anaerobic Actinomyces infection" RELATED [GARD:0005728]
synonym: "boil" RELATED [DOID:8478]
synonym: "canaliculitis" RELATED [GARD:0005728]
synonym: "infections, Actinomyces" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Keratoactinomycosis" RELATED [GARD:0005728]
synonym: "Madura foot due to Actinomadura" EXACT [DOID:8478]
xref: COHD:436020 {source="MONDO:equivalentTo"}
xref: DOID:8478 {source="EFO:0007128", source="MONDO:equivalentTo"}
xref: EFO:0007128 {source="MONDO:equivalentTo"}
xref: GARD:0005728 {source="MONDO:equivalentTo"}
xref: ICD10:A42 {source="DOID:8478"}
xref: ICD10:A42.0 {source="ORDO:457095/btnt", source="Orphanet:457095"}
xref: ICD10:A42.1 {source="ORDO:457095/btnt", source="Orphanet:457095"}
xref: ICD10:A42.2 {source="ORDO:457095/btnt", source="MONDO:superClassOf", source="Orphanet:457095"}
xref: ICD10:A42.7 {source="ORDO:457095/btnt", source="Orphanet:457095"}
xref: ICD10:A42.8 {source="ORDO:457095/btnt", source="Orphanet:457095"}
xref: ICD10:A42.9 {source="DOID:8478"}
xref: ICD9:039 {source="DOID:8478"}
xref: ICD9:039.9 {source="DOID:8478", source="MONDO:directSiblingOf"}
xref: MESH:D000196 {source="DOID:8478", source="EFO:0007128", source="MONDO:equivalentTo"}
xref: NCIT:C34350 {source="DOID:8478", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.70/0.08"}
xref: Orphanet:457095 {source="MONDO:equivalentTo"}
xref: UMLS:C0001261 {source="DOID:8478", source="NCIT:C34350", source="MONDO:equivalentTo"}
is_a: MONDO:0000315 {source="DOID:8478"} ! commensal bacterial infectious disease
is_a: MONDO:0006921 ! Actinomycetales infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154314007
property_value: closeMatch http://identifiers.org/snomedct/186402009
property_value: closeMatch http://identifiers.org/snomedct/186405006
property_value: closeMatch http://identifiers.org/snomedct/187335006
property_value: closeMatch http://identifiers.org/snomedct/238416009
property_value: closeMatch http://identifiers.org/snomedct/266185008
property_value: closeMatch http://identifiers.org/snomedct/50508009
property_value: exactMatch DOID:8478
property_value: exactMatch http://identifiers.org/mesh/D000196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001261
property_value: exactMatch NCIT:C34350
property_value: exactMatch Orphanet:457095
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5728/actinomycosis xsd:anyURI {source="GARD:0005728"}

[Term]
id: MONDO:0005632
name: acute chest syndrome
def: "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." [NCIT:C138179]
synonym: "ACS" EXACT [NCIT:C138179]
synonym: "acute chest syndrome in sickle cell disease" EXACT [DOID:1584]
xref: COHD:254062 {source="MONDO:equivalentTo"}
xref: DOID:1584 {source="EFO:0007129", source="MONDO:equivalentTo"}
xref: EFO:0007129 {source="MONDO:equivalentTo"}
xref: ICD9:517.3 {source="DOID:1584", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D056586 {source="DOID:1584", source="EFO:0007129", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C138179 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.78/0.77"}
xref: SCTID:372146004 {source="DOID:1584", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
xref: UMLS:C0742343 {source="DOID:1584", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0005632", source="NCIT:C138179"} ! syndromic disease
is_a: MONDO:0005275 {source="DOID:1584", source="EFO:0007129", source="MESH:D056586", source="linkedlifedata"} ! lung disease
relationship: disease_arises_from_feature MONDO:0011382 ! sickle cell anemia
property_value: exactMatch DOID:1584
property_value: exactMatch http://identifiers.org/mesh/D056586
property_value: exactMatch http://identifiers.org/snomedct/372146004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742343
property_value: exactMatch NCIT:C138179

[Term]
id: MONDO:0005633
name: obsolete acute disseminated encephalomyelitis
is_obsolete: true
replaced_by: MONDO:0019383

[Term]
id: MONDO:0005634
name: acute hemorrhagic conjunctivitis
def: "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." [NCIT:P378]
synonym: "Apollo disease" EXACT [DOID:11227, MTHICD9_2006:077.4]
synonym: "epidemic hemorrhagic conjunctivitis" EXACT [DOID:11227, ICD9CM_2006:077.4]
synonym: "viral conjunctivitis" RELATED [DOID:11227]
xref: DOID:11227 {source="MONDO:equivalentTo", source="EFO:0007131"}
xref: EFO:0007131 {source="MONDO:equivalentTo"}
xref: ICD9:077.4 {source="DOID:11227"}
xref: MESH:D003232 {source="DOID:11227", source="MONDO:equivalentTo", source="EFO:0007131"}
xref: NCIT:C34505 {source="DOID:11227", source="MONDO:equivalentTo"}
xref: SCTID:398264003 {source="DOID:11227", source="MONDO:kboom-pr-0.93/0.69/1.89", source="MONDO:equivalentTo"}
xref: UMLS:C0009765 {source="DOID:11227", source="MONDO:equivalentTo", source="NCIT:C34505"}
is_a: MONDO:0001214 {source="NCIT:C34505", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute conjunctivitis
is_a: MONDO:0024618 ! poliovirus infection
is_a: MONDO:0043541 ! viral conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/186677009
property_value: closeMatch http://identifiers.org/snomedct/31502007
property_value: closeMatch http://identifiers.org/snomedct/398273006
property_value: exactMatch DOID:11227
property_value: exactMatch http://identifiers.org/mesh/D003232
property_value: exactMatch http://identifiers.org/snomedct/398264003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009765
property_value: exactMatch NCIT:C34505

[Term]
id: MONDO:0005635
name: adenomyoma
def: "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." [NCIT:C3726]
synonym: "adenomyoma" EXACT [NCIT:C3726]
synonym: "adenomyoma (morphologic abnormality)" EXACT [DOID:2609]
synonym: "adenomyoma, benign" EXACT [NCIT:C3726]
xref: DOID:2609 {source="MONDO:equivalentTo", source="EFO:0007133"}
xref: EFO:0007133 {source="MONDO:equivalentTo"}
xref: ICDO:8932/0 {source="NCIT:C3726"}
xref: MESH:D018194 {source="DOID:2609", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007133"}
xref: NCIT:C3726 {source="DOID:2609", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206622 {source="DOID:2609", source="NCIT:C3726", source="MONDO:equivalentTo"}
is_a: MONDO:0000624 {source="NCIT:C3726"} ! benign female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0002928 {source="DOID:2609"} ! carcinosarcoma
property_value: closeMatch http://identifiers.org/snomedct/40293003
property_value: exactMatch DOID:2609
property_value: exactMatch http://identifiers.org/mesh/D018194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206622
property_value: exactMatch NCIT:C3726

[Term]
id: MONDO:0005636
name: adenosarcoma
def: "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." [NCIT:C9474]
synonym: "adenosarcoma" EXACT [NCIT:C9474]
synonym: "adenosarcoma (morphologic abnormality)" EXACT [DOID:1974]
synonym: "Mullerian adenosarcoma" EXACT [NCIT:C9474]
synonym: "mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474]
synonym: "Müllerian adenosarcoma" EXACT [NCIT:C9474]
xref: DOID:1974 {source="MONDO:equivalentTo", source="EFO:0007134"}
xref: EFO:0007134 {source="MONDO:equivalentTo"}
xref: ICDO:8933/3 {source="NCIT:C9474"}
xref: MESH:D018195 {source="MONDO:equivalentTo", source="DOID:1974", source="MONDO:ontobio", source="EFO:0007134"}
xref: NCIT:C9474 {source="MONDO:equivalentTo", source="DOID:1974", source="exact-label-match"}
xref: UMLS:C0001442 {source="NCIT:C9474", source="MONDO:equivalentTo", source="DOID:1974"}
is_a: MONDO:0001416 {source="NCIT:C9474"} ! female reproductive organ cancer
is_a: MONDO:0005853 {source="DOID:1974/inferred", source="NCIT:C9474"} ! malignant mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189804002
property_value: closeMatch http://identifiers.org/snomedct/31470003
property_value: exactMatch DOID:1974
property_value: exactMatch http://identifiers.org/mesh/D018195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001442
property_value: exactMatch NCIT:C9474

[Term]
id: MONDO:0005637
name: obsolete adult-onset Still disease
synonym: "obsolete adult-onset Still's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019355

[Term]
id: MONDO:0005638
name: agnosia
def: "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." [NCIT:C84542]
subset: gard_rare {source="GARD:0000008"}
synonym: "agnosia" EXACT [NCIT:C84542]
synonym: "dyspraxia" EXACT EXCLUDE [DOID:4090]
synonym: "dyspraxia (finding)" RELATED [DOID:4090]
synonym: "dyspraxia syndrome" RELATED [DOID:4090, MTHICD9_2006:315.4]
synonym: "Monomodal visual amnesia" NARROW [GARD:0000008]
synonym: "primary visual agnosia" NARROW [GARD:0000008]
synonym: "visual amnesia" NARROW [GARD:0000008]
xref: DOID:4090 {source="EFO:0007136", source="MONDO:equivalentTo"}
xref: EFO:0007136 {source="MONDO:equivalentTo"}
xref: GARD:0000008 {source="MONDO:equivalentTo"}
xref: ICD10:R48.1 {source="MONDO:equivalentTo", source="DOID:4090"}
xref: ICD10:R48.2 {source="DOID:4090", source="MONDO:directSiblingOf"}
xref: MESH:D000377 {source="EFO:0007136", source="MONDO:equivalentTo", source="DOID:4090"}
xref: NCIT:C84542 {source="MONDO:equivalentTo", source="DOID:4090", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:68345001 {source="MONDO:equivalentTo", source="DOID:4090"}
is_a: MONDO:0024417 {source="MESH:D000377", source="MONDO:Entailed", source="MONDO:Redundant"} ! perceptual disorders
relationship: excluded_subClassOf MONDO:0002182 {source="DOID:4090"} ! communication disorder
property_value: closeMatch http://identifiers.org/snomedct/158320000
property_value: closeMatch http://identifiers.org/snomedct/158322008
property_value: closeMatch http://identifiers.org/snomedct/192146008
property_value: closeMatch http://identifiers.org/snomedct/206989009
property_value: closeMatch http://identifiers.org/snomedct/206991001
property_value: closeMatch http://identifiers.org/snomedct/250058008
property_value: closeMatch http://identifiers.org/snomedct/271724003
property_value: closeMatch http://identifiers.org/snomedct/42341009
property_value: closeMatch http://identifiers.org/snomedct/6950007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001816
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003635
property_value: exactMatch DOID:4090
property_value: exactMatch http://identifiers.org/mesh/D000377
property_value: exactMatch http://identifiers.org/snomedct/68345001
property_value: exactMatch NCIT:C84542
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8/agnosia xsd:anyURI {source="GARD:0000008"}

[Term]
id: MONDO:0005639
name: AIDS related complex
def: "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids." [MESH:D000386]
xref: EFO:0007137 {source="MONDO:equivalentTo"}
xref: MESH:D000386 {source="EFO:0007137", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0001857 {source="MONDO:equivalentTo"}
is_a: MONDO:0005109 {source="EFO:0007137", source="MESH:D000386"} ! HIV infectious disease
property_value: closeMatch DOID:1308
property_value: exactMatch http://identifiers.org/mesh/D000386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001857

[Term]
id: MONDO:0005640
name: akinetic mutism
def: "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" [MESH:D000405]
synonym: "Coma vigilans" EXACT [DOID:4267]
synonym: "Coma vigilans (finding)" EXACT [DOID:4267]
xref: DOID:4267 {source="EFO:0007138", source="MONDO:equivalentTo"}
xref: EFO:0007138 {source="MONDO:equivalentTo"}
xref: MESH:D000405 {source="DOID:4267", source="EFO:0007138", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:53333005 {source="DOID:4267", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0001889 {source="DOID:4267", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:4267", source="EFO:0007138", source="MESH:D000405"} ! brain disease
property_value: closeMatch http://identifiers.org/snomedct/5124002
property_value: exactMatch DOID:4267
property_value: exactMatch http://identifiers.org/mesh/D000405
property_value: exactMatch http://identifiers.org/snomedct/53333005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001889

[Term]
id: MONDO:0005641
name: aleutian mink disease
def: "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." [MESH:D000453]
synonym: "Aleutian disease" EXACT [DOID:2934]
synonym: "Aleutian mink disease virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aleutian mink disease virus disease or disorder" EXACT []
synonym: "Aleutian mink disease virus infectious disease" EXACT []
xref: DOID:2934 {source="EFO:0007139", source="MONDO:equivalentTo"}
xref: EFO:0007139 {source="MONDO:equivalentTo"}
xref: ICD9:079.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000453 {source="EFO:0007139", source="MONDO:equivalentTo", source="DOID:2934", source="MONDO:ontobio"}
xref: SCTID:62251004 {source="MONDO:equivalentTo", source="DOID:2934", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0002016 {source="MONDO:equivalentTo", source="DOID:2934"}
is_a: MONDO:0025371 ! Parvoviridae infectious disease
property_value: exactMatch DOID:2934
property_value: exactMatch http://identifiers.org/mesh/D000453
property_value: exactMatch http://identifiers.org/snomedct/62251004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002016

[Term]
id: MONDO:0005642
name: atopic conjunctivitis
def: "Conjunctivitis due to hypersensitivity to various allergens." [MESH:D003233]
synonym: "allergic conjunctivitis" EXACT [MONDO:ambiguous, NCIT:C34506]
synonym: "allergic conjunctivitis (disease)" EXACT []
synonym: "allergic form of conjunctivitis (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "Atopic conjunctivitis" EXACT [NCIT:C34506]
xref: DOID:11204 {source="MONDO:equivalentTo", source="EFO:0007141"}
xref: EFO:0007141 {source="MONDO:equivalentTo"}
xref: HP:0007879 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:372.14 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34506 {source="DOID:11204", source="MONDO:equivalentTo"}
xref: SCTID:473460002 {source="DOID:11204", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0009766 {source="DOID:11204", source="NCIT:C34506", source="MONDO:equivalentTo"}
is_a: MONDO:0002314 {source="DOID:11204"} ! chronic conjunctivitis
is_a: MONDO:0005551 ! eye allergy
property_value: closeMatch http://identifiers.org/mesh/D003233
property_value: closeMatch http://identifiers.org/snomedct/155168003
property_value: closeMatch http://identifiers.org/snomedct/193868008
property_value: closeMatch http://identifiers.org/snomedct/20212001
property_value: closeMatch http://identifiers.org/snomedct/231854006
property_value: exactMatch DOID:11204
property_value: exactMatch http://identifiers.org/snomedct/473460002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009766
property_value: exactMatch NCIT:C34506

[Term]
id: MONDO:0005643
name: Alphavirus infectious disease
def: "Virus diseases caused by members of the alphavirus genus of the family togaviridae." [MESH:D018354]
synonym: "Alphavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Alphavirus disease or disorder" EXACT []
xref: EFO:0007142 {source="MONDO:equivalentTo"}
xref: MESH:D018354 {source="MONDO:equivalentTo", source="EFO:0007142"}
xref: UMLS:C0206752 {source="MONDO:equivalentTo"}
is_a: MONDO:0005985 ! Togaviridae infectious disease
property_value: closeMatch DOID:5029
property_value: exactMatch http://identifiers.org/mesh/D018354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206752

[Term]
id: MONDO:0005644
name: amebiasis
def: "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." [NCIT:P378]
synonym: "amoebiasis" EXACT [DOID:9181]
synonym: "chronic intestinal amebiasis" RELATED [DOID:9181]
synonym: "entamoebiasis" EXACT [DOID:9181]
xref: DOID:9181 {source="MONDO:equivalentTo", source="EFO:0007144"}
xref: EFO:0007144 {source="MONDO:equivalentTo"}
xref: ICD10:A06 {source="DOID:9181"}
xref: ICD10:A06.9 {source="DOID:9181"}
xref: ICD9:006 {source="DOID:9181"}
xref: ICD9:006.9 {source="DOID:9181"}
xref: MESH:D000562 {source="DOID:9181", source="MONDO:equivalentTo", source="EFO:0007144"}
xref: NCIT:C84551 {source="MONDO:kboom-pr-0.90/0.80/0.06", source="DOID:9181", source="MONDO:equivalentTo"}
xref: UMLS:C0002438 {source="DOID:9181", source="MONDO:equivalentTo", source="NCIT:C84551"}
is_a: MONDO:0002428 {source="DOID:9181", source="MESH:D000562"} ! protozoa infectious disease
property_value: closeMatch http://identifiers.org/snomedct/105637008
property_value: closeMatch http://identifiers.org/snomedct/111909004
property_value: closeMatch http://identifiers.org/snomedct/111910009
property_value: closeMatch http://identifiers.org/snomedct/154274000
property_value: closeMatch http://identifiers.org/snomedct/186122001
property_value: closeMatch http://identifiers.org/snomedct/187278004
property_value: closeMatch http://identifiers.org/snomedct/282008000
property_value: closeMatch http://identifiers.org/snomedct/387754006
property_value: closeMatch http://identifiers.org/snomedct/388759003
property_value: exactMatch DOID:9181
property_value: exactMatch http://identifiers.org/mesh/D000562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002438
property_value: exactMatch NCIT:C84551

[Term]
id: MONDO:0005645
name: ancylostomiasis
def: "Infection by hookworms of the genus Ancylostoma." [NCIT:P378]
subset: ordo_disease {source="Orphanet:78"}
synonym: "Ancylostoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ancylostoma disease or disorder" EXACT []
synonym: "Ancylostoma duodenale infection" RELATED [GARD:0009742]
synonym: "Ancylostoma infectious disease" EXACT []
synonym: "hookworm infection" EXACT [Orphanet:78]
xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"}
xref: EFO:0007145 {source="MONDO:equivalentTo"}
xref: GARD:0009742 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B76.0 {source="Orphanet:78", source="ORDO:78/btnt", source="DOID:12841"}
xref: ICD10:B76.1 {source="Orphanet:78", source="ORDO:78/btnt", source="MONDO:directSiblingOf"}
xref: ICD10:B76.8 {source="Orphanet:78", source="ORDO:78/btnt"}
xref: ICD10:B76.9 {source="Orphanet:78", source="ORDO:78/btnt"}
xref: ICD9:126.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10002255 {source="Orphanet:78", source="ORDO:78/e"}
xref: MedDRA:10020376 {source="Orphanet:78", source="ORDO:78/e"}
xref: MESH:D000724 {source="Orphanet:78", source="ORDO:78/e", source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841", source="EFO:0007145"}
xref: MONDO:0019184 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C35805 {source="MONDO:kboom-pr-0.90/0.80/0.18", source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"}
xref: Orphanet:78 {source="MONDO:equivalentTo"}
xref: SCTID:63479002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08", source="DOID:12841"}
xref: UMLS:C0002831 {source="NCIT:C35805", source="Orphanet:78", source="ORDO:78/e", source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"}
is_a: MONDO:0005973 ! Strongylida infectious disease
property_value: closeMatch http://identifiers.org/snomedct/85807000
property_value: exactMatch DOID:12841
property_value: exactMatch http://identifiers.org/meddra/10002255
property_value: exactMatch http://identifiers.org/meddra/10020376
property_value: exactMatch http://identifiers.org/mesh/D000724
property_value: exactMatch http://identifiers.org/mesh/D006725
property_value: exactMatch http://identifiers.org/snomedct/63479002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019911
property_value: exactMatch NCIT:C35805
property_value: exactMatch Orphanet:78

[Term]
id: MONDO:0005646
name: obsolete anisakiasis
is_obsolete: true
replaced_by: MONDO:0015200

[Term]
id: MONDO:0005647
name: anogenital human papillomavirus infection
def: "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." [NCIT:P378]
synonym: "anogenital Human papilloma Virus infection" EXACT [NCIT:C4820]
synonym: "anogenital Human papilloma Virus infectious disease" EXACT [DOID:11168, NCIT:C4820]
synonym: "anogenital Human Papillomavirus infection" EXACT [NCIT:C4820]
synonym: "anogenital venereal wart" EXACT [DOID:11168]
synonym: "anogenital Warts" EXACT [DOID:11168]
synonym: "condyloma acuminatum" RELATED [DOID:11168, ICD9CM_2006:078.11]
synonym: "genital wart virus infectious disease" EXACT [DOID:11168]
synonym: "genital Warts" EXACT [DOID:11168]
synonym: "venereal wart" EXACT [CSP2005:2020-4312, DOID:11168]
xref: COHD:198075 {source="MONDO:equivalentTo"}
xref: DOID:11168 {source="EFO:0007147", source="MONDO:equivalentTo"}
xref: EFO:0007147 {source="MONDO:equivalentTo"}
xref: ICD10:A63.0 {source="DOID:11168"}
xref: ICD9:078.11 {source="DOID:11168"}
xref: MESH:D003218 {source="EFO:0007147", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11168"}
xref: NCIT:C4820 {source="MONDO:equivalentTo", source="DOID:11168"}
xref: SCTID:266113007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.68/2.67", source="DOID:11168"}
is_a: MONDO:0005161 {source="MONDOLEX:0005647", source="NCIT:C4820", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! human papilloma virus infection
is_a: MONDO:0021682 {source="MESH:D003218"} ! viral sexually transmitted disease
property_value: closeMatch http://identifiers.org/snomedct/123157002
property_value: closeMatch http://identifiers.org/snomedct/154361008
property_value: closeMatch http://identifiers.org/snomedct/154365004
property_value: closeMatch http://identifiers.org/snomedct/186688003
property_value: closeMatch http://identifiers.org/snomedct/22020001
property_value: closeMatch http://identifiers.org/snomedct/240542006
property_value: closeMatch http://identifiers.org/snomedct/266198004
property_value: closeMatch http://identifiers.org/snomedct/302812006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009663
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0554632
property_value: closeMatch NCIT:C2960
property_value: exactMatch DOID:11168
property_value: exactMatch http://identifiers.org/mesh/D003218
property_value: exactMatch http://identifiers.org/snomedct/266113007
property_value: exactMatch NCIT:C4820

[Term]
id: MONDO:0005648
name: aortic valve insufficiency
def: "Dysfunction of the aortic valve characterized by incomplete valve closure." [NCIT:P378]
synonym: "aortic incompetence" EXACT [DOID:57]
synonym: "aortic insufficiency" EXACT [DOID:57]
synonym: "aortic regurgitation" EXACT [CSP2005:1393-3890, DOID:57]
synonym: "Corrigan's disease" RELATED [DOID:57]
synonym: "rheumatic aortic insufficiency" EXACT [DOID:57, ICD9CM_2006:395.1]
synonym: "rheumatic aortic regurgitation" EXACT [DOID:57]
synonym: "rheumatic aortic valve insufficiency" EXACT [DOID:57]
synonym: "rheumatic aortic valve regurgitation" EXACT [DOID:57, MTHICD9_2006:395.1]
xref: COHD:439834 {source="MONDO:equivalentTo"}
xref: DOID:57 {source="EFO:0007148", source="MONDO:equivalentTo"}
xref: EFO:0007148 {source="MONDO:equivalentTo"}
xref: ICD10:I06.1 {source="DOID:57", source="MONDO:equivalentTo"}
xref: ICD9:395.1 {source="DOID:57", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:396.3 {source="DOID:57"}
xref: MESH:D001022 {source="EFO:0007148", source="DOID:57", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C51223 {source="DOID:57", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.20"}
xref: SCTID:78031003 {source="DOID:57", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.76/2.58"}
xref: UMLS:C0003504 {source="DOID:57", source="MONDO:equivalentTo", source="NCIT:C51223"}
xref: UMLS:C0155568 {source="MEDGEN:kboom-pr97-c98", source="DOID:57", source="MONDO:equivalentTo"}
is_a: MONDO:0003803 {source="DOID:57", source="NCIT:C51223"} ! aortic valve disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://identifiers.org/snomedct/155283004
property_value: closeMatch http://identifiers.org/snomedct/194736003
property_value: closeMatch http://identifiers.org/snomedct/60234000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264774
property_value: closeMatch NCIT:C50861
property_value: exactMatch DOID:57
property_value: exactMatch http://identifiers.org/mesh/D001022
property_value: exactMatch http://identifiers.org/snomedct/78031003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155568
property_value: exactMatch NCIT:C51223

[Term]
id: MONDO:0005649
name: appendicitis
def: "Acute inflammation of the vermiform appendix." [NCIT:P378]
synonym: "acute appendicitis" NARROW [DOID:8337]
synonym: "acute appendicitis with generalized peritonitis" NARROW [DOID:8337]
synonym: "acute appendicitis with peritoneal abscess" NARROW [DOID:8337]
synonym: "inflammation of vermiform appendix" EXACT []
synonym: "vermiform appendix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:440448 {source="MONDO:equivalentTo"}
xref: DOID:8337 {source="EFO:0007149", source="MONDO:equivalentTo"}
xref: EFO:0007149 {source="MONDO:equivalentTo"}
xref: ICD10:K37 {source="DOID:8337"}
xref: ICD9:540-543.99 {source="DOID:8337"}
xref: ICD9:541 {source="DOID:8337"}
xref: MESH:D001064 {source="DOID:8337", source="EFO:0007149", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35145 {source="DOID:8337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:74400008 {source="DOID:8337", source="MONDO:equivalentTo"}
xref: UMLS:C0003615 {source="DOID:8337", source="MONDO:equivalentTo"}
is_a: MONDO:0001674 ! diverticulitis of colon
is_a: MONDO:0005292 ! colitis (disease)
is_a: MONDO:0056798 ! disorder of appendix
property_value: closeMatch http://identifiers.org/snomedct/155728006
property_value: closeMatch http://identifiers.org/snomedct/155729003
property_value: closeMatch http://identifiers.org/snomedct/155733005
property_value: closeMatch http://identifiers.org/snomedct/155736002
property_value: closeMatch http://identifiers.org/snomedct/196785005
property_value: closeMatch http://identifiers.org/snomedct/307530000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085693
property_value: exactMatch DOID:8337
property_value: exactMatch http://identifiers.org/mesh/D001064
property_value: exactMatch http://identifiers.org/snomedct/74400008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003615
property_value: exactMatch NCIT:C35145

[Term]
id: MONDO:0005650
name: Arenaviridae infectious disease
def: "Virus diseases caused by the arenaviridae." [MESH:D001117]
synonym: "Arenaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Arenaviridae disease or disorder" EXACT []
synonym: "Arenaviridae infection" RELATED [MESH:D001117]
synonym: "arenavirus infection" RELATED [MESH:D001117]
synonym: "arenavirus infections" RELATED [MESH:D001117]
synonym: "arenavirus infectious disease" EXACT [MONDO:0024385]
synonym: "disease caused by arenavirus" RELATED []
synonym: "disease due to arenavirus" EXACT []
synonym: "infection, Arenaviridae" RELATED [MESH:D001117]
synonym: "infection, arenavirus" RELATED [MESH:D001117]
synonym: "infections, Arenaviridae" RELATED [MESH:D001117]
synonym: "infections, arenavirus" RELATED [MESH:D001117]
xref: EFO:0007150 {source="MONDO:equivalentTo"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001117 {source="MONDO:equivalentTo", source="EFO:0007150"}
xref: SCTID:3303004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007150", source="MESH:D001117/inferred", source="MONDO:Redundant", source="MONDOLEX:0005650", source="linkedlifedata"} ! viral infectious disease
property_value: closeMatch DOID:3944
property_value: exactMatch http://identifiers.org/mesh/D001117
property_value: exactMatch http://identifiers.org/snomedct/3303004

[Term]
id: MONDO:0005651
name: arenavirus hemorrhagic fever
alt_id: MONDO:0024384
def: "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [EFO:0007151]
synonym: "arenaviral hemorrhagic fever" EXACT []
xref: EFO:0007151 {source="MONDO:equivalentTo"}
xref: ICD9:078.7 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:73730005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153112 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005650 ! Arenaviridae infectious disease
is_a: MONDO:0018087 {source="MONDO:Redundant", source="linkedlifedata"} ! viral hemorrhagic fever
property_value: closeMatch DOID:9535
property_value: closeMatch http://identifiers.org/mesh/D006478
property_value: exactMatch http://identifiers.org/snomedct/73730005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153112

[Term]
id: MONDO:0005652
name: Arterivirus infectious disease
def: "Infections caused by viruses of the genus arterivirus." [MESH:D018174]
synonym: "Arterivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Arterivirus disease or disorder" EXACT []
xref: EFO:0007152 {source="MONDO:equivalentTo"}
xref: MESH:D018174 {source="MONDO:equivalentTo", source="EFO:0007152"}
xref: UMLS:C0206604 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007152", source="MESH:D018174/inferred"} ! viral infectious disease
property_value: closeMatch DOID:3718
property_value: exactMatch http://identifiers.org/mesh/D018174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206604

[Term]
id: MONDO:0005653
name: obsolete asbestosis
is_obsolete: true
replaced_by: MONDO:0016466

[Term]
id: MONDO:0005654
name: ascariasis
def: "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." [NCIT:C128392]
synonym: "ascariasis - roundworm" EXACT [DOID:456]
synonym: "Ascaris lumbricoides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaris lumbricoides disease or disorder" EXACT []
synonym: "Ascaris lumbricoides infection" RELATED [DOID:456]
synonym: "Ascaris lumbricoides infectious disease" EXACT []
xref: COHD:192259 {source="MONDO:equivalentTo"}
xref: CSP:1248-7284 {source="DOID:456"}
xref: DOID:456 {source="MONDO:equivalentTo", source="EFO:0007154"}
xref: EFO:0007154 {source="MONDO:equivalentTo"}
xref: ICD10:B77 {source="DOID:456", source="MONDO:equivalentTo"}
xref: ICD10:B77.9 {source="DOID:456"}
xref: ICD9:127.0 {source="DOID:456", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001196 {source="DOID:456", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007154"}
xref: NCIT:C128392 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:2435008 {source="DOID:456", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.20"}
xref: UMLS:C0003950 {source="DOID:456", source="MONDO:equivalentTo", source="NCIT:C128392"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154411000
property_value: closeMatch http://identifiers.org/snomedct/187172007
property_value: closeMatch http://identifiers.org/snomedct/187536006
property_value: closeMatch http://identifiers.org/snomedct/271435007
property_value: exactMatch DOID:456
property_value: exactMatch http://identifiers.org/mesh/D001196
property_value: exactMatch http://identifiers.org/snomedct/2435008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003950
property_value: exactMatch NCIT:C128392

[Term]
id: MONDO:0005655
name: ascaridiasis
def: "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." [MESH:D001198]
synonym: "Ascaridia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaridia disease or disorder" EXACT []
synonym: "Ascaridia infectious disease" EXACT []
synonym: "ascaridiosis" RELATED []
synonym: "infection by Ascaridia" EXACT []
synonym: "infection caused by Ascaridia" RELATED []
xref: DOID:3108 {source="MONDO:equivalentTo", source="EFO:0007155"}
xref: EFO:0007155 {source="MONDO:equivalentTo"}
xref: ICD10:B77 {source="DOID:3108", source="MONDO:directSiblingOf"}
xref: MESH:D001198 {source="MONDO:equivalentTo", source="DOID:3108", source="MONDO:ontobio", source="EFO:0007155"}
xref: SCTID:76160002 {source="MONDO:equivalentTo", source="DOID:3108"}
xref: UMLS:C0003952 {source="MONDO:equivalentTo", source="DOID:3108"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
property_value: exactMatch DOID:3108
property_value: exactMatch http://identifiers.org/mesh/D001198
property_value: exactMatch http://identifiers.org/snomedct/76160002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003952

[Term]
id: MONDO:0005656
name: Ascaridida infectious disease
def: "Infections with nematodes of the order ascaridida." [MESH:D017191]
synonym: "Ascaridida caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaridida disease or disorder" EXACT []
synonym: "Ascaridida infection" RELATED [MESH:D017191]
synonym: "infection, Ascaridida" RELATED [MESH:D017191]
synonym: "infections, Ascaridida" RELATED [MESH:D017191]
xref: EFO:0007156 {source="MONDO:equivalentTo"}
xref: MESH:D017191 {source="MONDO:equivalentTo", source="EFO:0007156"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
property_value: closeMatch DOID:457
property_value: exactMatch http://identifiers.org/mesh/D017191

[Term]
id: MONDO:0005657
name: aspergillosis
def: "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma , a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess , is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." [https://rarediseases.info.nih.gov/diseases/5856/aspergillosis]
subset: gard_rare {source="GARD:0005856"}
subset: ordo_disease {source="Orphanet:1163"}
synonym: "infection due to Aspergillus" EXACT [DOID:13564]
xref: COHD:434281 {source="MONDO:equivalentTo"}
xref: CSP:1988-4002 {source="DOID:13564"}
xref: DOID:13564 {source="MONDO:equivalentTo", source="EFO:0007157"}
xref: EFO:0007157 {source="MONDO:equivalentTo"}
xref: GARD:0005856 {source="MONDO:equivalentTo"}
xref: ICD10:B44 {source="MONDO:equivalentTo", source="DOID:13564"}
xref: ICD10:B44.0 {source="ORDO:1163/btnt", source="Orphanet:1163"}
xref: ICD10:B44.1 {source="ORDO:1163/btnt", source="Orphanet:1163"}
xref: ICD10:B44.2 {source="ORDO:1163/btnt", source="Orphanet:1163"}
xref: ICD10:B44.7 {source="ORDO:1163/btnt", source="Orphanet:1163"}
xref: ICD10:B44.8 {source="ORDO:1163/btnt", source="Orphanet:1163"}
xref: ICD10:B44.9 {source="ORDO:1163/btnt", source="DOID:13564", source="Orphanet:1163"}
xref: ICD9:117.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13564"}
xref: MedDRA:10003488 {source="Orphanet:1163", source="ORDO:1163/e"}
xref: MESH:D001228 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13564", source="EFO:0007157", source="Orphanet:1163", source="ORDO:1163/e"}
xref: NCIT:C2886 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13564"}
xref: Orphanet:1163 {source="MONDO:equivalentTo"}
xref: SCTID:65553006 {source="MONDO:equivalentTo", source="DOID:13564", source="MONDO:kboom-pr-1.00/0.80/9.44"}
xref: UMLS:C0004030 {source="MONDO:equivalentTo", source="DOID:13564", source="NCIT:C2886", source="Orphanet:1163", source="ORDO:1163/e"}
is_a: MONDO:0002312 {source="DOID:13564", source="MONDO:Redundant"} ! opportunistic mycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154408001
property_value: closeMatch http://identifiers.org/snomedct/187087004
property_value: closeMatch http://identifiers.org/snomedct/187492008
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: exactMatch DOID:13564
property_value: exactMatch http://identifiers.org/meddra/10003488
property_value: exactMatch http://identifiers.org/mesh/D001228
property_value: exactMatch http://identifiers.org/snomedct/65553006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004030
property_value: exactMatch NCIT:C2886
property_value: exactMatch Orphanet:1163
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5856/aspergillosis xsd:anyURI {source="GARD:0005856"}

[Term]
id: MONDO:0005658
name: Astroviridae infectious disease
def: "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets." [MESH:D019350]
xref: EFO:0007158 {source="MONDO:equivalentTo"}
xref: MESH:D019350 {source="EFO:0007158", source="MONDO:equivalentTo"}
xref: UMLS:C0376550 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007158", source="MESH:D019350/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:4412
property_value: exactMatch http://identifiers.org/mesh/D019350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376550

[Term]
id: MONDO:0005659
name: atrophic rhinitis
def: "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." [MESH:D012222]
synonym: "dry rhinitis" EXACT [DOID:4731]
synonym: "Ozaena" EXACT [DOID:4731]
synonym: "ozena" EXACT [DOID:4731]
synonym: "rhinitis sicca" RELATED [DOID:4731]
synonym: "rhinitis, atrophic" EXACT [DOID:4731, MTHICD9_2006:472.0]
xref: DOID:4731 {source="EFO:0007159", source="MONDO:equivalentTo"}
xref: EFO:0007159 {source="MONDO:equivalentTo"}
xref: MESH:D012222 {source="EFO:0007159", source="DOID:4731", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:69646003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.68/1.05"}
xref: UMLS:C0030105 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0035459 {source="DOID:4731", source="MONDO:equivalentTo"}
is_a: MONDO:0003014 {source="DOID:4731", source="MESH:D012222", source="linkedlifedata", source="linkedlifedata/inferred"} ! rhinitis
property_value: closeMatch http://identifiers.org/snomedct/28111002
property_value: exactMatch DOID:4731
property_value: exactMatch http://identifiers.org/mesh/D012222
property_value: exactMatch http://identifiers.org/snomedct/69646003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035459

[Term]
id: MONDO:0005660
name: Avulavirus infectious disease
def: "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl." [MESH:D045463]
xref: EFO:0007161 {source="MONDO:equivalentTo"}
xref: MESH:D045463 {source="MONDO:equivalentTo", source="EFO:0007161"}
xref: UMLS:C1258034 {source="MONDO:equivalentTo"}
is_a: MONDO:0005896 ! Paramyxoviridae infectious disease
property_value: closeMatch DOID:2930
property_value: exactMatch http://identifiers.org/mesh/D045463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258034

[Term]
id: MONDO:0005661
name: babesiosis
def: "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia . Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." [https://rarediseases.info.nih.gov/diseases/5878/babesiosis]
subset: gard_rare {source="GARD:0005878"}
subset: ordo_disease {source="Orphanet:108"}
synonym: "Babesia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Babesia disease or disorder" EXACT []
synonym: "Babesia infectious disease" EXACT []
synonym: "Babesia parasite infection" RELATED [GARD:0005878]
synonym: "babesiasis" EXACT [DOID:9643, MTHICD9_2006:088.82]
synonym: "Human babesiosis" RELATED [GARD:0005878]
synonym: "infection by Babesia" EXACT [DOID:9643]
synonym: "piroplasmosis" EXACT [CSP2005:2214-4957, DOID:9643]
xref: COHD:439730 {source="MONDO:equivalentTo"}
xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"}
xref: EFO:0007162 {source="MONDO:equivalentTo"}
xref: GARD:0005878 {source="MONDO:equivalentTo"}
xref: ICD10:B60.0 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="DOID:9643"}
xref: ICD9:088.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:9643"}
xref: MedDRA:10003965 {source="ORDO:108/e", source="Orphanet:108"}
xref: MESH:D001404 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="MONDO:ontobio", source="DOID:9643"}
xref: NCIT:C84581 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9643"}
xref: Orphanet:108 {source="MONDO:equivalentTo"}
xref: SCTID:21061004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05", source="DOID:9643"}
xref: UMLS:C0004576 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="NCIT:C84581", source="DOID:9643"}
is_a: MONDO:0002428 {source="DOID:9643", source="MESH:D001404/inferred"} ! protozoa infectious disease
relationship: disease_has_feature MONDO:0002009 {source="Wikidata"} ! major depressive disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187241002
property_value: closeMatch http://identifiers.org/snomedct/276204002
property_value: exactMatch DOID:9643
property_value: exactMatch http://identifiers.org/meddra/10003965
property_value: exactMatch http://identifiers.org/mesh/D001404
property_value: exactMatch http://identifiers.org/snomedct/21061004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004576
property_value: exactMatch NCIT:C84581
property_value: exactMatch Orphanet:108
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5878/babesiosis xsd:anyURI {source="GARD:0005878"}

[Term]
id: MONDO:0005662
name: balantidiasis
def: "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." [MESH:D001447]
subset: gard_rare {source="GARD:0000809"}
subset: ordo_disease {source="Orphanet:1223"}
synonym: "B coli infection" RELATED [GARD:0000809]
synonym: "Balantidiases" RELATED [MESH:D001447]
synonym: "balantidiosis" EXACT [Orphanet:1223]
synonym: "Balantidium coli infection" RELATED [GARD:0000809]
synonym: "ciliary dysentery" EXACT [Orphanet:1223]
synonym: "Human balantidiasis" RELATED [GARD:0000809]
synonym: "large-intestinal infection with Balantidium coli" RELATED [GARD:0000809]
xref: DOID:12386 {source="MONDO:equivalentTo", source="EFO:0007163"}
xref: EFO:0007163 {source="MONDO:equivalentTo"}
xref: GARD:0000809 {source="MONDO:equivalentTo"}
xref: ICD10:A07.0 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386"}
xref: ICD9:007.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12386"}
xref: MedDRA:10004080 {source="ORDO:1223/e", source="Orphanet:1223"}
xref: MESH:D001447 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="EFO:0007163"}
xref: NCIT:C84583 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12386"}
xref: Orphanet:1223 {source="MONDO:equivalentTo"}
xref: SCTID:57725006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12386"}
xref: UMLS:C0004692 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="NCIT:C84583"}
is_a: MONDO:0002428 {source="DOID:12386", source="MESH:D001447/inferred"} ! protozoa infectious disease
is_a: MONDO:0005113 {source="Orphanet:1223"} ! bacterial infectious disease
is_a: MONDO:0005704 ! Ciliophora infectious disease
is_a: MONDO:0024270 {source="MESH:D001447"} ! parasitic intestinal disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/105638003
property_value: exactMatch DOID:12386
property_value: exactMatch http://identifiers.org/meddra/10004080
property_value: exactMatch http://identifiers.org/mesh/C531629
property_value: exactMatch http://identifiers.org/mesh/D001447
property_value: exactMatch http://identifiers.org/snomedct/57725006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276786
property_value: exactMatch NCIT:C84583
property_value: exactMatch Orphanet:1223
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/809/balantidiasis xsd:anyURI {source="GARD:0000809"}

[Term]
id: MONDO:0005663
name: Barre-Lieou syndrome
def: "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." [NCIT:P378]
synonym: "Cervicocranial syndrome" EXACT [DOID:6692, ICD9CM_2006:723.2, NCIT:C34411]
synonym: "posterior cervical sympathetic syndrome" EXACT [DOID:6692, MTHICD9_2006:723.2]
xref: COHD:81660 {source="MONDO:equivalentTo"}
xref: DOID:6692 {source="MONDO:equivalentTo", source="EFO:0007165"}
xref: EFO:0007165 {source="MONDO:equivalentTo"}
xref: ICD10:M53.0 {source="MONDO:equivalentTo", source="DOID:6692"}
xref: ICD9:723.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D055010 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:6692", source="EFO:0007165"}
xref: NCIT:C34411 {source="MONDO:equivalentTo", source="DOID:6692", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:17300000 {source="MONDO:equivalentTo", source="DOID:6692", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0376378 {source="MONDO:equivalentTo", source="NCIT:C34411", source="DOID:6692"}
xref: UMLS:C2355645 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:6692", source="MONDOLEX:0005663", source="NCIT:C34411"} ! syndromic disease
is_a: MONDO:0005071 {source="EFO:0007165"} ! nervous system disorder
relationship: disease_arises_from_feature MONDO:0037747 ! spinal injury
property_value: exactMatch DOID:6692
property_value: exactMatch http://identifiers.org/mesh/D055010
property_value: exactMatch http://identifiers.org/snomedct/17300000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355645
property_value: exactMatch NCIT:C34411

[Term]
id: MONDO:0005664
name: bartonellosis
def: "An infectious disease produced by bacteria of the genus Bartonella." [https://en.wikipedia.org/wiki/Bartonellosis, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/33]
synonym: "Bartonella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella disease or disorder" EXACT []
synonym: "Bartonella infection" EXACT [NCIT:C84586]
synonym: "Bartonella infectious disease" EXACT [DOID:11102]
synonym: "bartonelliasis" EXACT [CSP2005:2623-6984, DOID:11102]
synonym: "Rochalimaea infection" RELATED [MESH:D001474]
synonym: "Rochalimaea infection (disorder)" EXACT DEPRECATED [DOID:11102, https://medical-dictionary.thefreedictionary.com/Rochalimaea]
synonym: "Rochalimaea infections" RELATED [MESH:D001474]
xref: COHD:440330 {source="MONDO:equivalentTo"}
xref: DOID:11102 {source="MONDO:equivalentTo", source="EFO:0007166"}
xref: EFO:0007166 {source="MONDO:equivalentTo"}
xref: ICD10:A44 {source="MONDO:equivalentTo", source="DOID:11102"}
xref: ICD10:A44.9 {source="DOID:11102"}
xref: ICD9:088.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11102"}
xref: MESH:D001474 {source="MONDO:equivalentTo", source="EFO:0007166", source="DOID:11102"}
xref: NCIT:C84586 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11102"}
xref: SCTID:266123003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11102"}
xref: UMLS:C0004771 {source="MONDO:equivalentTo", source="NCIT:C84586", source="DOID:11102"}
is_a: MONDO:0000314 {source="DOID:11102"} ! primary bacterial infectious disease
is_a: MONDO:0006924 {source="MESH:D001474", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bartonellaceae infectious disease
property_value: closeMatch http://identifiers.org/snomedct/17116008
property_value: closeMatch http://identifiers.org/snomedct/186824002
property_value: closeMatch http://identifiers.org/snomedct/187340003
property_value: closeMatch http://identifiers.org/snomedct/240454008
property_value: closeMatch http://identifiers.org/snomedct/240623002
property_value: exactMatch DOID:11102
property_value: exactMatch http://identifiers.org/mesh/D001474
property_value: exactMatch http://identifiers.org/snomedct/266123003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004771
property_value: exactMatch NCIT:C84586

[Term]
id: MONDO:0005665
name: Bell's palsy
def: "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." [NCIT:C26769]
synonym: "Bell palsy" EXACT [DOID:12506]
synonym: "Bell's (facial) palsy" EXACT [DOID:12506]
synonym: "facial nerve palsy" EXACT [MONDO:patterns/location, NCIT:C26769]
synonym: "facial nerve paralysis" EXACT [NCIT:C26769]
synonym: "facial palsy" EXACT [NCIT:C26769]
synonym: "nerve paralysis, Facial" EXACT [NCIT:C26769]
synonym: "palsy of facial nerve" EXACT [MONDO:design_pattern]
synonym: "paralysis Of Facial nerve" EXACT [NCIT:C26769]
xref: COHD:374923 {source="MONDO:equivalentTo"}
xref: DOID:12506 {source="MONDO:equivalentTo", source="EFO:0007167"}
xref: EFO:0007167 {source="MONDO:equivalentTo"}
xref: GARD:0005906 {source="MONDO:equivalentTo"}
xref: ICD10:G51.0 {source="DOID:12506", source="MONDO:equivalentTo"}
xref: ICD9:351.0 {source="DOID:12506", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020330 {source="DOID:12506", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007167"}
xref: NCIT:C26769 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo"}
xref: SCTID:193093009 {source="DOID:12506", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0376175 {source="DOID:12506", source="MONDO:equivalentTo", source="NCIT:C26769"}
is_a: MONDO:0001835 {source="DOID:12506", source="linkedlifedata"} ! facial paralysis
is_a: MONDO:0002098 {source="DOID:12506/inferred", source="ICD10:G51.0", source="MESH:D020330", source="MONDO:Redundant", source="NCIT:C26769", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! facial nerve disease
is_a: MONDO:0002782 {source="NCIT:C26769"} ! cranial nerve palsy
property_value: closeMatch http://identifiers.org/snomedct/155070005
property_value: closeMatch http://identifiers.org/snomedct/267703001
property_value: closeMatch http://identifiers.org/snomedct/79359001
property_value: exactMatch DOID:12506
property_value: exactMatch http://identifiers.org/mesh/D020330
property_value: exactMatch http://identifiers.org/snomedct/193093009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376175
property_value: exactMatch NCIT:C26769

[Term]
id: MONDO:0005666
name: obsolete berylliosis
is_obsolete: true
replaced_by: MONDO:0015274

[Term]
id: MONDO:0005667
name: biliary dyskinesia
def: "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." [MESH:D001657]
comment: Editor note: consider ciliary classification
synonym: "sphincter of Oddi dysfunction" EXACT [DOID:4140]
xref: DOID:4140 {source="EFO:0007169", source="MONDO:equivalentTo"}
xref: EFO:0007169 {source="MONDO:equivalentTo"}
xref: HP:0012396 {source="MONDO:otherHierarchy", source="DOID:4140"}
xref: ICD9:575.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001657 {source="EFO:0007169", source="MONDO:equivalentTo", source="DOID:4140"}
xref: SCTID:197432008 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo", source="DOID:4140"}
xref: UMLS:C0005416 {source="MONDO:equivalentTo", source="DOID:4140"}
is_a: MONDO:0002866 ! duodenal disease
is_a: MONDO:0002886 {source="MESH:D001657", source="MONDO:Redundant", source="OWLReasoner:2017"} ! common bile duct disease
is_a: MONDO:0005218 ! muscular disease
is_a: MONDO:0005281 {source="DOID:4140", source="EFO:0007169", source="linkedlifedata"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/snomedct/43469007
property_value: exactMatch DOID:4140
property_value: exactMatch http://identifiers.org/mesh/D001657
property_value: exactMatch http://identifiers.org/snomedct/197432008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005416

[Term]
id: MONDO:0005668
name: bird fancier's lung
def: "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:C34425]
synonym: "Avian hypersensitivity pneumonitis" EXACT [DOID:13891, NCIT:C34425]
synonym: "bird breeder's lung" EXACT [CSP2005:2596-6673, DOID:13891]
synonym: "bird fancier lung" EXACT [DOID:13891]
synonym: "bird fancier's lung" EXACT [NCIT:C34425]
synonym: "Bird-breeder's lung" RELATED [NCIT:C34425]
synonym: "Bird-fancier's lung" EXACT [DOID:13891]
synonym: "Bird-fanciers' lung" EXACT [DOID:13891, ICD9CM_2006:495.2]
synonym: "pigeon breeder's lung" EXACT [DOID:13891]
synonym: "pigeon-breeder's lung" RELATED [NCIT:C34425]
synonym: "poultry worker's lung" EXACT [DOID:13891]
xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"}
xref: EFO:0007170 {source="MONDO:equivalentTo"}
xref: ICD10:J67.2 {source="MONDO:equivalentTo", source="DOID:13891"}
xref: ICD9:495.2 {source="MONDO:equivalentTo", source="DOID:13891", source="i2s"}
xref: MESH:D001716 {source="MONDO:equivalentTo", source="EFO:0007170", source="DOID:13891"}
xref: NCIT:C34425 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:13891"}
xref: SCTID:69339004 {source="MONDO:equivalentTo", source="DOID:13891", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0005592 {source="MONDO:equivalentTo", source="DOID:13891", source="NCIT:C34425"}
is_a: MONDO:0004553 {source="DOID:13891", source="MESH:D001716", source="MONDOLEX:0005668", source="NCIT:C34425"} ! extrinsic allergic alveolitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/195987000
property_value: exactMatch DOID:13891
property_value: exactMatch http://identifiers.org/mesh/D001716
property_value: exactMatch http://identifiers.org/snomedct/69339004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005592
property_value: exactMatch NCIT:C34425

[Term]
id: MONDO:0005669
name: black piedra
def: "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:12711 {source="EFO:0007171", source="MONDO:equivalentTo"}
xref: EFO:0007171 {source="MONDO:equivalentTo"}
xref: ICD10:B36.3 {source="DOID:12711", source="MONDO:equivalentTo"}
xref: ICD9:111.3 {source="DOID:12711", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:33666009 {source="DOID:12711", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0153249 {source="DOID:12711", source="MONDO:equivalentTo"}
is_a: MONDO:0000253 {source="DOID:12711", source="MONDOLEX:0005669"} ! piedra
property_value: closeMatch http://identifiers.org/snomedct/154408001
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: exactMatch DOID:12711
property_value: exactMatch http://identifiers.org/snomedct/33666009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153249

[Term]
id: MONDO:0005670
name: blackwater fever
def: "A complication of malaria resulting from hemolysis." [NCIT:C34426]
synonym: "Black water fever" EXACT [DOID:14068]
synonym: "blackwater fever" EXACT [DOID:14068, ICD9CM_2006:084.8, NCIT:C34426]
synonym: "hemoglobinuric, malaria" EXACT [DOID:14068, MTHICD9_2006:084.8]
synonym: "malarial hemoglobinuria" EXACT [DOID:14068, NCIT:C34426]
xref: DOID:14068 {source="MONDO:equivalentTo", source="EFO:0007172"}
xref: EFO:0007172 {source="MONDO:equivalentTo"}
xref: ICD9:084.8 {source="MONDO:equivalentTo", source="i2s", source="DOID:14068"}
xref: MESH:D001742 {source="MONDO:equivalentTo", source="EFO:0007172", source="DOID:14068", source="MONDO:ontobio"}
xref: NCIT:C34426 {source="MONDO:equivalentTo", source="DOID:14068", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:56625005 {source="MONDO:equivalentTo", source="DOID:14068", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0005681 {source="MONDO:equivalentTo", source="DOID:14068", source="NCIT:C34426"}
is_a: MONDO:0005136 {source="DOID:14068", source="EFO:0007172", source="MESH:D001742/inferred", source="NCIT:C34426", source="linkedlifedata"} ! malaria
property_value: exactMatch DOID:14068
property_value: exactMatch http://identifiers.org/mesh/D001742
property_value: exactMatch http://identifiers.org/snomedct/56625005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005681
property_value: exactMatch NCIT:C34426

[Term]
id: MONDO:0005671
name: Blastocystis infectious disease
def: "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." [MESH:D016776]
synonym: "Blastocystis infection" EXACT [MESH:D016776, MONDO:patterns/infectious_disease_by_agent]
synonym: "infection, Blastocystis" RELATED [MESH:D016776]
synonym: "infections, Blastocystis" RELATED [MESH:D016776, MONDO:patterns/infectious_disease_by_agent]
xref: EFO:0007173 {source="MONDO:equivalentTo"}
xref: MESH:D016776 {source="MONDO:equivalentTo", source="EFO:0007173"}
xref: SCTID:721809007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005644 {source="MESH:D016776"} ! amebiasis
is_a: MONDO:0024270 {source="MESH:D016776"} ! parasitic intestinal disease
property_value: closeMatch DOID:11897
property_value: exactMatch http://identifiers.org/mesh/D016776
property_value: exactMatch http://identifiers.org/snomedct/721809007

[Term]
id: MONDO:0005672
name: blastomycosis
def: "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis , a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." [https://rarediseases.info.nih.gov/diseases/5931/blastomycosis]
subset: gard_rare {source="GARD:0005931"}
synonym: "Blastomyces dermatitidis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Blastomyces dermatitidis disease or disorder" EXACT []
synonym: "Blastomyces dermatitidis infection" EXACT [DOID:12663, NCIT:C34429]
synonym: "Blastomyces dermatitidis infectious disease" EXACT []
synonym: "blastomycotic infection" EXACT [DOID:12663, ICD9CM_2006:116]
synonym: "Chicago disease" EXACT [DOID:12663, MTHICD9_2006:116.0]
synonym: "Gilchrist's disease" EXACT [DOID:12663]
synonym: "infection by Blastomyces dermatitidis" EXACT [DOID:12663]
synonym: "North American blastomycosis" EXACT [DOID:12663, MTH:NOCODE]
xref: COHD:433146 {source="MONDO:equivalentTo"}
xref: CSP:1988-4119 {source="DOID:12663"}
xref: DOID:12663 {source="MONDO:equivalentTo", source="EFO:0007174"}
xref: EFO:0007174 {source="MONDO:equivalentTo"}
xref: GARD:0005931 {source="MONDO:equivalentTo"}
xref: ICD10:B40 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: ICD10:B40.9 {source="DOID:12663"}
xref: ICD9:116 {source="DOID:12663"}
xref: ICD9:116.0 {source="DOID:12663"}
xref: MESH:D001759 {source="MONDO:equivalentTo", source="EFO:0007174", source="MONDO:ontobio", source="DOID:12663"}
xref: NCIT:C34429 {source="MONDO:kboom-pr-0.91/0.77/0.63", source="MONDO:equivalentTo", source="DOID:12663"}
xref: SCTID:191950004 {source="MONDO:equivalentTo", source="DOID:12663", source="MONDO:kboom-pr-0.96/0.76/2.49"}
xref: UMLS:C0005716 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: UMLS:C0005717 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C34429", source="MONDO:equivalentTo"}
is_a: MONDO:0000308 {source="DOID:12663"} ! primary systemic mycosis
property_value: closeMatch http://identifiers.org/snomedct/10673008
property_value: closeMatch http://identifiers.org/snomedct/154402000
property_value: closeMatch http://identifiers.org/snomedct/187064007
property_value: closeMatch http://identifiers.org/snomedct/187071002
property_value: closeMatch http://identifiers.org/snomedct/187075006
property_value: closeMatch http://identifiers.org/snomedct/187484004
property_value: closeMatch http://identifiers.org/snomedct/266217003
property_value: closeMatch http://identifiers.org/snomedct/69996000
property_value: closeMatch NCIT:C34428
property_value: exactMatch DOID:12663
property_value: exactMatch http://identifiers.org/mesh/D001759
property_value: exactMatch http://identifiers.org/snomedct/191950004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005717
property_value: exactMatch NCIT:C34429
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5931/blastomycosis xsd:anyURI {source="GARD:0005931"}

[Term]
id: MONDO:0005673
name: blind loop syndrome
def: "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." [NCIT:P378]
synonym: "bacterial overgrowth syndrome" EXACT [DOID:10606]
synonym: "blind loop syndrome" EXACT [DOID:10606, ICD9CM_2006:579.2]
synonym: "stasis (blind loop) syndrome" EXACT [NCIT:C34431]
synonym: "stasis syndrome" EXACT [NCIT:C34431]
xref: COHD:196732 {source="MONDO:equivalentTo"}
xref: DOID:10606 {source="MONDO:equivalentTo", source="EFO:0007175"}
xref: EFO:0007175 {source="MONDO:equivalentTo"}
xref: ICD10:K90.2 {source="DOID:10606"}
xref: ICD9:579.2 {source="DOID:10606"}
xref: MESH:D001765 {source="MONDO:equivalentTo", source="DOID:10606", source="EFO:0007175", source="MONDO:ontobio"}
xref: NCIT:C34431 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10606"}
xref: SCTID:66379009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:10606"}
xref: UMLS:C0005750 {source="MONDO:equivalentTo", source="NCIT:C34431", source="DOID:10606"}
is_a: MONDO:0020598 ! malabsorption syndrome
property_value: closeMatch http://identifiers.org/snomedct/77225009
property_value: exactMatch DOID:10606
property_value: exactMatch http://identifiers.org/mesh/D001765
property_value: exactMatch http://identifiers.org/snomedct/66379009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005750
property_value: exactMatch NCIT:C34431

[Term]
id: MONDO:0005674
name: bone giant cell tumor
alt_id: MONDO:0018219
def: "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." [NCIT:C121932]
subset: ordo_disease {source="Orphanet:363976"}
synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932]
synonym: "GCT of bone" EXACT [Orphanet:363976]
synonym: "giant cell myeloma" RELATED [DOID:4305]
synonym: "giant cell neoplasm of bone" EXACT [DOID:4305, NCIT:C3738]
synonym: "giant cell tumor of bone" EXACT [MONDO:ambiguous]
synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [DOID:4305]
synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [DOID:4305]
synonym: "giant cell tumor of the bone" EXACT [NCIT:C121932]
synonym: "giant cell tumor, benign" EXACT [NCIT:C121932]
synonym: "osteoclastoma" RELATED [DOID:4305]
synonym: "Osteoclastoma, benign" EXACT [NCIT:C121932]
xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"}
xref: EFO:0007176 {source="MONDO:equivalentTo"}
xref: GARD:0013046 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011847 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D48.0 {source="ORDO:363976/ntbt", source="Orphanet:363976"}
xref: MESH:D018212 {source="DOID:4305", source="MONDO:equivalentTo", source="EFO:0007176"}
xref: NCIT:C121932 {source="DOID:4305", source="MONDO:equivalentTo"}
xref: ONCOTREE:GCTB {source="MONDO:equivalentTo"}
xref: Orphanet:363976 {source="MONDO:equivalentTo"}
xref: SCTID:697970009 {source="DOID:4305", source="MONDO:equivalentTo"}
xref: UMLS:C0206638 {source="NCIT:C121932", source="DOID:4305", source="MONDO:equivalentTo", source="Orphanet:363976"}
is_a: MONDO:0021054 {source="Orphanet:363976"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/189891002
property_value: closeMatch http://identifiers.org/snomedct/57500000
property_value: exactMatch DOID:4305
property_value: exactMatch http://identifiers.org/mesh/D018212
property_value: exactMatch http://identifiers.org/snomedct/697970009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206638
property_value: exactMatch NCIT:C121932
property_value: exactMatch Orphanet:363976

[Term]
id: MONDO:0005675
name: border disease
def: "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." [MESH:D001882]
xref: EFO:0007177 {source="MONDO:equivalentTo"}
xref: MESH:D001882 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007177"}
xref: UMLS:C0006008 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0005583 {source="EFO:0007177", source="MESH:D001882/inferred"} ! non-human animal disease
property_value: closeMatch DOID:4804
property_value: exactMatch http://identifiers.org/mesh/D001882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006008

[Term]
id: MONDO:0005676
name: borna disease
def: "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." [MESH:D001890]
synonym: "enzootic encephalomyelitis" EXACT [DOID:5154]
xref: DOID:5154 {source="MONDO:equivalentTo", source="EFO:0007178"}
xref: EFO:0007178 {source="MONDO:equivalentTo"}
xref: MESH:D001890 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5154", source="EFO:0007178"}
xref: UMLS:C0006023 {source="MONDO:equivalentTo", source="DOID:5154"}
is_a: MONDO:0005156 {source="EFO:0007178"} ! encephalomyelitis
is_a: MONDO:0005856 ! Mononegavirales infectious disease
is_a: MONDO:0024318 ! viral infection of central nervous system
property_value: closeMatch http://identifiers.org/snomedct/76851008
property_value: exactMatch DOID:5154
property_value: exactMatch http://identifiers.org/mesh/D001890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006023

[Term]
id: MONDO:0005677
name: Rickettsia conorii infectious disease
is_a: MONDO:0001195 ! spotted fever

[Term]
id: MONDO:0005678
name: bovine respiratory disease complex
def: "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." [MESH:D048090]
xref: EFO:0007180 {source="MONDO:equivalentTo"}
xref: MESH:D048090 {source="EFO:0007180", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1449809 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="EFO:0007180", source="MESH:D048090/inferred"} ! respiratory system disease
property_value: closeMatch DOID:3732
property_value: exactMatch http://identifiers.org/mesh/D048090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449809

[Term]
id: MONDO:0005679
name: bovine virus diarrhea-mucosal disease
def: "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." [MESH:D001912]
xref: EFO:0007181 {source="MONDO:equivalentTo"}
xref: MESH:D001912 {source="MONDO:equivalentTo", source="EFO:0007181", source="MONDO:ontobio"}
xref: UMLS:C0006075 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007181", source="MESH:D001912/inferred"} ! non-human animal disease
property_value: closeMatch DOID:5115
property_value: exactMatch http://identifiers.org/mesh/D001912
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006075

[Term]
id: MONDO:0005680
name: Brill-Zinsser disease
def: "a delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." [https://en.wikipedia.org/wiki/Brill%E2%80%93Zinsser_disease]
subset: ordo_clinical_subtype {source="Orphanet:99990"}
synonym: "Brill disease" EXACT [Orphanet:99990]
synonym: "Brill Zinsser disease" EXACT [CSP2005:2623-8052, DOID:11254]
synonym: "Brill's disease" EXACT [DOID:11254, ICD9CM_2006:081.1]
synonym: "latent typhus" RELATED [DOID:11254]
synonym: "recrudescent typhus" EXACT [DOID:11254, MTHICD9_2006:081.1, Orphanet:99990]
synonym: "sporadic typhus" RELATED [DOID:11254]
xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"}
xref: EFO:0007182 {source="MONDO:equivalentTo"}
xref: ICD10:A75.1 {source="ORDO:99990/e", source="DOID:11254", source="Orphanet:99990"}
xref: ICD9:081.1 {source="DOID:11254"}
xref: Orphanet:99990 {source="MONDO:equivalentTo"}
xref: SCTID:47761007 {source="MONDO:equivalentTo", source="DOID:11254", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0006181 {source="MONDO:equivalentTo", source="DOID:11254", source="Orphanet:99990"}
is_a: MONDO:0019362 {source="DOID:11254", source="MONDOLEX:0005680", source="Orphanet:99990"} ! epidemic louse-borne typhus
relationship: excluded_subClassOf MONDO:0005619 {source="EFO:0007182", source="https://github.com/EBISPOT/efo/issues/171"} ! typhoid fever
property_value: exactMatch DOID:11254
property_value: exactMatch http://identifiers.org/snomedct/47761007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006181
property_value: exactMatch Orphanet:99990

[Term]
id: MONDO:0005682
name: bronchopneumonia
def: "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." [NCIT:P378]
synonym: "bronchial pneumonia" EXACT [DOID:12375]
synonym: "chest infection - bronchopneumonia" EXACT [DOID:12375]
synonym: "chest infection - unspecified bronchopneumonia" EXACT [DOID:12375]
synonym: "lobular pneumonia" EXACT [DOID:12375]
xref: COHD:256722 {source="MONDO:equivalentTo"}
xref: DOID:12375 {source="MONDO:equivalentTo", source="EFO:0007184"}
xref: EFO:0007184 {source="MONDO:equivalentTo"}
xref: ICD10:J18.0 {source="DOID:12375"}
xref: ICD9:485 {source="MONDO:equivalentTo", source="i2s", source="DOID:12375"}
xref: MESH:D001996 {source="MONDO:equivalentTo", source="EFO:0007184", source="DOID:12375", source="MONDO:ontobio"}
xref: NCIT:C26710 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12375"}
xref: SCTID:396285007 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo", source="DOID:12375"}
xref: UMLS:C0006285 {source="MONDO:equivalentTo", source="NCIT:C26710", source="DOID:12375"}
is_a: MONDO:0005249 {source="DOID:12375", source="EFO:0007184", source="MESH:D001996", source="NCIT:C26710", source="linkedlifedata"} ! pneumonia
property_value: closeMatch http://identifiers.org/snomedct/155551009
property_value: closeMatch http://identifiers.org/snomedct/195914001
property_value: closeMatch http://identifiers.org/snomedct/266352008
property_value: closeMatch http://identifiers.org/snomedct/67814005
property_value: exactMatch DOID:12375
property_value: exactMatch http://identifiers.org/mesh/D001996
property_value: exactMatch http://identifiers.org/snomedct/396285007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006285
property_value: exactMatch NCIT:C26710

[Term]
id: MONDO:0005683
name: brucellosis
def: "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart ( endocarditis ), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." [https://rarediseases.info.nih.gov/diseases/5966/brucellosis]
subset: gard_rare {source="GARD:0005966"}
subset: ordo_disease {source="Orphanet:1304"}
synonym: "bang's disease" RELATED [DOID:11077]
synonym: "Cyprus fever" RELATED [GARD:0005966]
synonym: "Gibraltar fever" RELATED [DOID:11077]
synonym: "Malta fever" RELATED [DOID:11077]
synonym: "Maltese fever" EXACT [DOID:11077]
synonym: "Mediterranean fever" RELATED [DOID:11077]
synonym: "Rock fever" RELATED [GARD:0005966]
synonym: "undulant fever" EXACT [DOID:11077]
xref: COHD:441497 {source="MONDO:equivalentTo"}
xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"}
xref: EFO:0007185 {source="MONDO:equivalentTo"}
xref: GARD:0005966 {source="MONDO:equivalentTo"}
xref: ICD10:A23 {source="MONDO:equivalentTo", source="DOID:11077"}
xref: ICD10:A23.0 {source="ORDO:1304/btnt", source="Orphanet:1304"}
xref: ICD10:A23.1 {source="ORDO:1304/btnt", source="Orphanet:1304"}
xref: ICD10:A23.2 {source="ORDO:1304/btnt", source="Orphanet:1304"}
xref: ICD10:A23.3 {source="ORDO:1304/btnt", source="Orphanet:1304"}
xref: ICD10:A23.8 {source="ORDO:1304/btnt", source="Orphanet:1304"}
xref: ICD10:A23.9 {source="ORDO:1304/btnt", source="Orphanet:1304", source="DOID:11077"}
xref: ICD9:023 {source="DOID:11077"}
xref: ICD9:023.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11077"}
xref: MedDRA:10006500 {source="ORDO:1304/e", source="Orphanet:1304"}
xref: MESH:D002006 {source="MONDO:equivalentTo", source="ORDO:1304/e", source="Orphanet:1304", source="DOID:11077", source="EFO:0007185"}
xref: NCIT:C84602 {source="MONDO:equivalentTo", source="DOID:11077", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:1304 {source="MONDO:equivalentTo"}
xref: SCTID:75702008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46", source="DOID:11077"}
xref: UMLS:C0006309 {source="NCIT:C84602", source="MONDO:equivalentTo", source="ORDO:1304/e", source="Orphanet:1304", source="DOID:11077"}
is_a: MONDO:0000314 {source="DOID:11077"} ! primary bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/111804008
property_value: closeMatch http://identifiers.org/snomedct/154296006
property_value: closeMatch http://identifiers.org/snomedct/186310006
property_value: closeMatch http://identifiers.org/snomedct/187304000
property_value: exactMatch DOID:11077
property_value: exactMatch http://identifiers.org/meddra/10006500
property_value: exactMatch http://identifiers.org/mesh/D002006
property_value: exactMatch http://identifiers.org/snomedct/75702008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006309
property_value: exactMatch NCIT:C84602
property_value: exactMatch Orphanet:1304
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5966/brucellosis xsd:anyURI {source="GARD:0005966"}

[Term]
id: MONDO:0005684
name: bulbar polio
def: "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" [MESH:D011052]
synonym: "bulbar polio" EXACT [MESH:D011052]
synonym: "bulbar poliomyelitis" EXACT [DOID:9786, MESH:D011052]
synonym: "medullary involvement poliomyelitis" RELATED [MESH:D011052]
synonym: "polio, bulbar" RELATED [MESH:D011052]
synonym: "poliomyelitis, medullary involvement" RELATED [MESH:D011052]
xref: DOID:9786 {source="MONDO:equivalentTo", source="EFO:0007186"}
xref: EFO:0007186 {source="MONDO:equivalentTo"}
xref: ICD9:045.0 {source="DOID:9786"}
xref: MESH:D011052 {source="MONDO:equivalentTo", source="EFO:0007186", source="MONDO:ontobio", source="DOID:9786"}
xref: UMLS:C0032372 {source="MONDO:equivalentTo", source="DOID:9786"}
is_a: MONDO:0000341 {source="DOID:9786"} ! paralytic poliomyelitis
is_a: MONDO:0015141 ! disorder of medulla oblongata
property_value: closeMatch http://identifiers.org/snomedct/186475007
property_value: closeMatch http://identifiers.org/snomedct/398327006
property_value: closeMatch http://identifiers.org/snomedct/54839009
property_value: closeMatch http://identifiers.org/snomedct/64764001
property_value: exactMatch DOID:9786
property_value: exactMatch http://identifiers.org/mesh/D011052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032372

[Term]
id: MONDO:0005685
name: obsolete bullous pemphigoid
is_obsolete: true
replaced_by: MONDO:0019082

[Term]
id: MONDO:0005686
name: obsolete Bunyaviridae infectious disease
is_obsolete: true
replaced_by: MONDO:0021641

[Term]
id: MONDO:0005687
name: Caliciviridae infectious disease
def: "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." [MESH:D017250]
synonym: "Caliciviridae infection" RELATED [MESH:D017250]
synonym: "Calicivirus infection" RELATED [MESH:D017250]
synonym: "Calicivirus infections" RELATED [MESH:D017250]
synonym: "infection, Caliciviridae" RELATED [MESH:D017250]
synonym: "infection, Calicivirus" RELATED [MESH:D017250]
synonym: "infections, Caliciviridae" RELATED [MESH:D017250]
synonym: "infections, Calicivirus" RELATED [MESH:D017250]
xref: EFO:0007189 {source="MONDO:equivalentTo"}
xref: MESH:D017250 {source="MONDO:equivalentTo", source="EFO:0007189"}
is_a: MONDO:0005108 {source="EFO:0007189", source="MESH:D017250/inferred", source="MONDO:Redundant", source="MONDOLEX:0005687"} ! viral infectious disease
property_value: closeMatch DOID:4091
property_value: exactMatch http://identifiers.org/mesh/D017250

[Term]
id: MONDO:0005688
name: campylobacteriosis
def: "Infections with bacteria of the genus campylobacter." [MESH:D002169]
xref: DOID:13622 {source="EFO:0007190", source="MONDO:equivalentTo"}
xref: EFO:0007190 {source="MONDO:equivalentTo"}
xref: MESH:D002169 {source="EFO:0007190", source="MONDO:equivalentTo", source="DOID:13622"}
xref: SCTID:86500004 {source="MONDO:equivalentTo", source="DOID:13622", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0006818 {source="MONDO:equivalentTo", source="DOID:13622"}
is_a: MONDO:0000314 {source="DOID:13622"} ! primary bacterial infectious disease
is_a: MONDO:0002269 {source="https://orcid.org/0000-0002-5316-1399"} ! gastroenteritis
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:13622
property_value: exactMatch http://identifiers.org/mesh/D002169
property_value: exactMatch http://identifiers.org/snomedct/86500004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006818

[Term]
id: MONDO:0005689
name: cannabis dependence
def: "Physical and psychological dependence on the drug cannabis." [NCIT:C34445]
synonym: "cannabis abuse" EXACT [MONDO:0004809]
synonym: "marijuana abuse" EXACT [CSP2005:0962-7919, DOID:9505]
synonym: "marijuana dependence" EXACT [MONDO:0005353]
xref: DOID:1849 {source="EFO:0007191", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0004218"}
xref: DOID:9505 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0004218"}
xref: EFO:0007191 {source="MONDO:equivalentTo"}
xref: ICD10:F12 {source="DOID:9505"}
xref: ICD10:F12.1 {source="DOID:9505"}
xref: ICD10:F12.2 {source="DOID:1849"}
xref: ICD9:304.3 {source="EFO:0004218", source="DOID:1849"}
xref: ICD9:304.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:305.2 {source="DOID:9505", source="EFO:0004218"}
xref: MESH:D002189 {source="EFO:0007191", source="DOID:9505", source="MONDO:equivalentTo", source="DOID:1849"}
xref: NCIT:C34445 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0004218", source="DOID:1849"}
xref: SCTID:37344009 {source="DOID:9505", source="MONDO:equivalentTo", source="EFO:0004218", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:85005007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0004218", source="DOID:1849"}
is_a: MONDO:0005303 {source="DOID:1849/inferred", source="EFO:0004218", source="EFO:0004218/inferred", source="EFO:0007191", source="MONDO:Redundant", source="NCIT:C34445", source="linkedlifedata", source="linkedlifedata/inferred"} ! drug dependence
relationship: excluded_subClassOf MONDO:0002491 {source="DOID:9505", source="linkedlifedata"} ! substance abuse
relationship: excluded_subClassOf MONDO:0004939 {source="DOID:1849", source="linkedlifedata"} ! hallucinogen dependence
property_value: closeMatch http://identifiers.org/snomedct/191835009
property_value: closeMatch http://identifiers.org/snomedct/191836005
property_value: closeMatch http://identifiers.org/snomedct/268766005
property_value: closeMatch http://identifiers.org/snomedct/268769003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006868
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006870
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024809
property_value: exactMatch DOID:1849
property_value: exactMatch DOID:9505
property_value: exactMatch http://identifiers.org/mesh/D002189
property_value: exactMatch http://identifiers.org/snomedct/37344009
property_value: exactMatch http://identifiers.org/snomedct/85005007
property_value: exactMatch NCIT:C34445

[Term]
id: MONDO:0005690
name: Caplan syndrome
def: "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray." [https://en.wikipedia.org/wiki/Caplan%27s_syndrome]
synonym: "Caplan syndrome" EXACT [DOID:10326]
synonym: "Caplan's disease" EXACT [DOID:10326]
synonym: "Caplan's syndrome" RELATED [DOID:10326]
synonym: "Caplans syndrome" EXACT [DOID:10326]
synonym: "rheumatoid pneumoconiosis" EXACT [DOID:10326]
xref: DOID:10326 {source="MONDO:equivalentTo", source="EFO:0007192"}
xref: EFO:0007192 {source="MONDO:equivalentTo"}
xref: MESH:D002205 {source="DOID:10326", source="MONDO:equivalentTo", source="EFO:0007192", source="MONDO:ontobio"}
xref: SCTID:398640008 {source="DOID:10326", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0006915 {source="DOID:10326", source="MONDO:equivalentTo"}
is_a: MONDO:0015926 {source="DOID:10326", source="EFO:0007192", source="MESH:D002205", source="linkedlifedata"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/snomedct/111280008
property_value: closeMatch http://identifiers.org/snomedct/201813004
property_value: exactMatch DOID:10326
property_value: exactMatch http://identifiers.org/mesh/D002205
property_value: exactMatch http://identifiers.org/snomedct/398640008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006915

[Term]
id: MONDO:0005691
name: cardiovirus infectious disease
def: "Infections caused by viruses of the genus cardiovirus, family picornaviridae." [MESH:D018188]
synonym: "Cardiovirus infection" RELATED [MESH:D018188]
synonym: "infection, Cardiovirus" RELATED [MESH:D018188]
synonym: "infections, Cardiovirus" RELATED [MESH:D018188]
xref: EFO:0007194 {source="MONDO:equivalentTo"}
xref: MESH:D018188 {source="MONDO:equivalentTo", source="EFO:0007194"}
xref: UMLS:C0206617 {source="MONDO:equivalentTo"}
is_a: MONDO:0005914 ! Picornaviridae infectious disease
property_value: closeMatch DOID:3667
property_value: exactMatch http://identifiers.org/mesh/D018188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206617

[Term]
id: MONDO:0005692
name: cat-scratch disease
def: "Cat scratch disease is an infectious illness caused by the bacteria bartonella ( Bartonella henselae ). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." [https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease]
subset: gard_rare {source="GARD:0000027"}
subset: ordo_disease {source="Orphanet:50839"}
synonym: "bartonellosis due to Bartonella henselae infection" EXACT [Orphanet:50839]
synonym: "benign lymphoreticulosis" EXACT [DOID:11258, MTHICD9_2006:078.3]
synonym: "Cat scratch disease" RELATED [GARD:0000027]
synonym: "cat scratch fever" EXACT [DOID:11258]
synonym: "Cat-scratch fever" EXACT [NCIT:C84620]
synonym: "debre's syndrome" EXACT [DOID:11258]
synonym: "debre-Mollaret syndrome" EXACT [DOID:11258]
synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258]
xref: COHD:440642 {source="MONDO:equivalentTo"}
xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"}
xref: EFO:0007195 {source="MONDO:equivalentTo"}
xref: GARD:0000027 {source="MONDO:equivalentTo"}
xref: ICD10:A28.1 {source="DOID:11258", source="MONDO:equivalentTo", source="ORDO:50839/e", source="Orphanet:50839"}
xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10007729 {source="ORDO:50839/e", source="Orphanet:50839"}
xref: MESH:D002372 {source="DOID:11258", source="MONDO:equivalentTo", source="EFO:0007195", source="ORDO:50839/e", source="Orphanet:50839"}
xref: NCIT:C84620 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:50839 {source="MONDO:equivalentTo"}
xref: SCTID:79974007 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: UMLS:C0007361 {source="DOID:11258", source="MONDO:equivalentTo", source="ORDO:50839/e", source="Orphanet:50839", source="NCIT:C84620"}
xref: UMLS:CN205187 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002052 {source="MESH:D002372"} ! lymphadenitis (disease)
is_a: MONDO:0005664 {source="DOID:11258", source="MESH:D002372", source="MONDO:Redundant", source="linkedlifedata"} ! bartonellosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/123319006
property_value: closeMatch http://identifiers.org/snomedct/154370006
property_value: closeMatch http://identifiers.org/snomedct/266202002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238909
property_value: exactMatch DOID:11258
property_value: exactMatch http://identifiers.org/meddra/10007729
property_value: exactMatch http://identifiers.org/mesh/D002372
property_value: exactMatch http://identifiers.org/snomedct/79974007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205187
property_value: exactMatch NCIT:C84620
property_value: exactMatch Orphanet:50839
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease xsd:anyURI {source="GARD:0000027"}

[Term]
id: MONDO:0005693
name: cauda equina syndrome
def: "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk , tumor , infection, fracture, or spinal stenosis . Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy , occupational therapy , and/or other services may be required if symptoms persist following surgery." [https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome]
subset: gard_rare {source="GARD:0010987"}
synonym: "cauda equina syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of cauda equina" EXACT [MONDO:design_pattern]
xref: COHD:4102342 {source="MONDO:equivalentTo"}
xref: DOID:11577 {source="MONDO:equivalentTo", source="EFO:0007196"}
xref: EFO:0007196 {source="MONDO:equivalentTo"}
xref: GARD:0010987 {source="MONDO:equivalentTo"}
xref: ICD10:G83.4 {source="DOID:11577", source="MONDO:equivalentTo"}
xref: ICD9:344.6 {source="DOID:11577"}
xref: NCIT:C35436 {source="DOID:11577", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:192970008 {source="DOID:11577", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0392548 {source="DOID:11577", source="MONDO:equivalentTo", source="NCIT:C35436"}
is_a: MONDO:0002254 {source="DOID:11577", source="MONDO:Redundant", source="MONDOLEX:0005693", source="NCIT:C35436"} ! syndromic disease
is_a: MONDO:0003620 {source="DOID:11577", source="NCIT:C35436/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155032006
property_value: closeMatch http://identifiers.org/snomedct/192972000
property_value: closeMatch http://identifiers.org/snomedct/192973005
property_value: closeMatch http://identifiers.org/snomedct/89356000
property_value: exactMatch DOID:11577
property_value: exactMatch http://identifiers.org/snomedct/192970008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392548
property_value: exactMatch NCIT:C35436
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome xsd:anyURI {source="GARD:0010987"}

[Term]
id: MONDO:0005694
name: cecal neoplasm
def: "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:P378]
synonym: "caecum neoplasm" EXACT []
synonym: "caecum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "caecum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cecal benign neoplasm" RELATED [DOID:1517]
synonym: "cecum neoplasm" EXACT [DOID:1517, NCIT:C4433]
synonym: "cecum tumor" EXACT [NCIT:C4433]
synonym: "neoplasm of caecum" EXACT [DOID:1517, MONDO:patterns/neoplasm]
synonym: "neoplasm of cecum" EXACT [NCIT:C4433]
synonym: "neoplasm of the cecum" EXACT [NCIT:C4433]
synonym: "tumor of caecum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cecum" EXACT [NCIT:C4433]
synonym: "tumor of the cecum" EXACT [NCIT:C4433]
xref: DOID:1517 {source="MONDO:equivalentTo", source="EFO:0007197"}
xref: EFO:0007197 {source="MONDO:equivalentTo"}
xref: MESH:D002430 {source="MONDO:equivalentTo", source="EFO:0007197", source="DOID:1517"}
xref: NCIT:C4433 {source="MONDO:equivalentTo", source="DOID:1517"}
xref: SCTID:126839008 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo", source="DOID:1517"}
xref: UMLS:C0007528 {source="MONDO:equivalentTo", source="NCIT:C4433", source="DOID:1517"}
is_a: MONDO:0002031 {source="MESH:D002430", source="MONDO:Redundant", source="linkedlifedata"} ! cecal disease
is_a: MONDO:0005401 {source="EFO:0007197/inferred", source="MONDO:Redundant", source="NCIT:C4433"} ! colonic neoplasm
property_value: exactMatch DOID:1517
property_value: exactMatch http://identifiers.org/mesh/D002430
property_value: exactMatch http://identifiers.org/snomedct/126839008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007528
property_value: exactMatch NCIT:C4433

[Term]
id: MONDO:0005695
name: central nervous system AIDS arteritis
def: "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." [MESH:D020943]
synonym: "AIDS associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943]
synonym: "AIDS-associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943]
synonym: "central nervous system AIDS arteritis" EXACT [MESH:D020943]
synonym: "cerebral aneurysmal arteriopathy, AIDS associated" EXACT [MESH:D020943]
synonym: "cerebral aneurysmal arteriopathy, AIDS-associated" EXACT [MESH:D020943]
synonym: "CNS Vasculitides, HIV-1-associated" EXACT [MESH:D020943]
synonym: "CNS Vasculitides, HIV-associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV-1-associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV-associated" EXACT [MESH:D020943]
synonym: "HIV 1 associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV associated vasculitis of the central nervous system" EXACT [MESH:D020943]
synonym: "HIV-1-associated CNS Vasculitides" EXACT [MESH:D020943]
synonym: "HIV-1-associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV-associated CNS Vasculitides" EXACT [MESH:D020943]
synonym: "HIV-associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV-associated vasculitis of the central nervous system" EXACT [MESH:D020943]
synonym: "Vasculitides, HIV-1-associated CNS" EXACT [MESH:D020943]
synonym: "Vasculitides, HIV-associated CNS" EXACT [MESH:D020943]
synonym: "vasculitis of the central nervous system, HIV associated" EXACT [MESH:D020943]
synonym: "vasculitis of the central nervous system, HIV-associated" EXACT [MESH:D020943]
synonym: "vasculitis, HIV-1-associated CNS" EXACT [MESH:D020943]
synonym: "vasculitis, HIV-associated CNS" EXACT [MESH:D020943]
xref: EFO:0007198 {source="MONDO:equivalentTo"}
xref: MESH:D020943 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007198"}
xref: UMLS:C0752329 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C0752330 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
xref: UMLS:C0752331 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0003346 {source="MESH:D020943"} ! central nervous system vasculitis
is_a: MONDO:0005109 {source="EFO:0007198", source="MESH:D020943"} ! HIV infectious disease
is_a: MONDO:0024318 ! viral infection of central nervous system
property_value: closeMatch DOID:524
property_value: exactMatch http://identifiers.org/mesh/D020943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752331

[Term]
id: MONDO:0005696
name: central nervous system tuberculosis
def: "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." [MESH:D016862]
synonym: "central nervous system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "intracranial tuberculoma" EXACT [DOID:1638]
synonym: "tuberculoma of brain" EXACT [DOID:1638]
synonym: "tuberculosis of meninges and central nervous system" EXACT [DOID:1638]
synonym: "tuberculous abscess of brain" EXACT [DOID:1638]
xref: COHD:374267 {source="MONDO:equivalentTo"}
xref: DOID:1638 {source="MONDO:equivalentTo", source="EFO:0007199"}
xref: EFO:0007199 {source="MONDO:equivalentTo"}
xref: ICD9:013.2 {source="DOID:1638"}
xref: ICD9:013.20 {source="DOID:1638"}
xref: ICD9:013.35 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:186217006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0085388 {source="MONDO:equivalentTo", source="DOID:1638"}
xref: UMLS:C2607948 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000368 {source="DOID:1638", source="MONDO:Redundant"} ! extrapulmonary tuberculosis
is_a: MONDO:0024619 ! central nervous system infectious disorder
relationship: disease_has_feature MONDO:0019843 {source="Orphanet:3389-modified"} ! pituitary hormone deficiency secondary to a granulomatous disease
property_value: closeMatch http://identifiers.org/mesh/D016862
property_value: closeMatch http://identifiers.org/snomedct/40769007
property_value: closeMatch http://identifiers.org/snomedct/416265003
property_value: exactMatch DOID:1638
property_value: exactMatch http://identifiers.org/snomedct/186217006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607948

[Term]
id: MONDO:0005697
name: cerebral toxoplasmosis
def: "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781]
synonym: "encephalitis due to acquired toxoplasmosis" RELATED [DOID:10551]
synonym: "meningoencephalitis due to toxoplasmosis" RELATED [DOID:10551]
synonym: "Toxoplasma encephalitis" EXACT [DOID:10551]
xref: EFO:0007200 {source="MONDO:equivalentTo"}
xref: ICD9:130.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016781 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007200"}
xref: SCTID:192701001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.11"}
is_a: MONDO:0005046 {source="EFO:0007200"} ! immune system disease
property_value: closeMatch DOID:10551
property_value: exactMatch http://identifiers.org/mesh/D016781
property_value: exactMatch http://identifiers.org/snomedct/192701001

[Term]
id: MONDO:0005698
name: cervical incompetence
def: "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." [NCIT:P378]
xref: DOID:9681 {source="EFO:0007202", source="MONDO:equivalentTo"}
xref: EFO:0007202 {source="MONDO:equivalentTo"}
xref: ICD10:N88.3 {source="DOID:9681"}
xref: ICD9:622.5 {source="MONDO:equivalentTo", source="DOID:9681", source="i2s"}
xref: ICD9:654.50 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002581 {source="EFO:0007202", source="MONDO:equivalentTo", source="DOID:9681"}
xref: SCTID:17382005 {source="MONDO:equivalentTo", source="DOID:9681", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0002256 {source="DOID:9681", source="MESH:D002581", source="linkedlifedata"} ! cervix disease
property_value: closeMatch http://identifiers.org/snomedct/156172008
property_value: closeMatch http://identifiers.org/snomedct/157049000
property_value: closeMatch http://identifiers.org/snomedct/199480002
property_value: closeMatch http://identifiers.org/snomedct/199481003
property_value: closeMatch http://identifiers.org/snomedct/199486008
property_value: closeMatch http://identifiers.org/snomedct/36836005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007871
property_value: exactMatch DOID:9681
property_value: exactMatch http://identifiers.org/mesh/D002581
property_value: exactMatch http://identifiers.org/snomedct/17382005
property_value: exactMatch NCIT:C50607

[Term]
id: MONDO:0005699
name: cervicofacial actinomycosis
def: "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197]
synonym: "cervicofacial actinomycotic infection" RELATED [DOID:12633]
synonym: "lumpy jaw" RELATED [DOID:12633]
xref: EFO:0007203 {source="MONDO:equivalentTo"}
xref: ICD10:A42.2 {source="MONDO:equivalentTo"}
xref: ICD9:039.3 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000197 {source="EFO:0007203", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34351 {source="MONDO:equivalentTo"}
xref: SCTID:23014006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0001264 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005042 {source="EFO:0007203"} ! head disease
is_a: MONDO:0005631 {source="MESH:D000197", source="MONDOLEX:0005699", source="NCIT:C34351"} ! actinomycosis
property_value: closeMatch DOID:12633
property_value: exactMatch http://identifiers.org/mesh/D000197
property_value: exactMatch http://identifiers.org/snomedct/23014006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001264
property_value: exactMatch NCIT:C34351

[Term]
id: MONDO:0005700
name: chickenpox
def: "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." [NCIT:C97132]
synonym: "chicken pox" EXACT [NCIT:C97132]
synonym: "chicken pox infection" EXACT [NCIT:C97132]
synonym: "chickenpox" EXACT [NCIT:C97132]
synonym: "Varicella" EXACT [NCIT:C97132]
synonym: "varicella" EXACT [CSP2005:3099-9437, DOID:8659]
xref: COHD:434272 {source="MONDO:equivalentTo"}
xref: DOID:8659 {source="EFO:0007204", source="MONDO:equivalentTo"}
xref: EFO:0007204 {source="MONDO:equivalentTo"}
xref: ICD10:B01 {source="DOID:8659"}
xref: ICD10:B01.9 {source="DOID:8659"}
xref: ICD9:052 {source="DOID:8659"}
xref: ICD9:052.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002644 {source="EFO:0007204", source="DOID:8659", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97132 {source="DOID:8659", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:38907003 {source="DOID:8659", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0008049 {source="DOID:8659", source="MONDO:equivalentTo", source="NCIT:C97132"}
is_a: MONDO:0005608 {source="MONDO:Redundant", source="NCIT:C97132", source="OWLReasoner:2017", source="linkedlifedata"} ! varicella zoster infection
is_a: MONDO:0006617 ! vesiculobullous skin disease
is_a: MONDO:0024294 ! skin disease caused by infection
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: closeMatch http://identifiers.org/snomedct/154325003
property_value: closeMatch http://identifiers.org/snomedct/186508005
property_value: exactMatch DOID:8659
property_value: exactMatch http://identifiers.org/mesh/D002644
property_value: exactMatch http://identifiers.org/snomedct/38907003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008049
property_value: exactMatch NCIT:C97132

[Term]
id: MONDO:0005701
name: chlamydia trachomatis infectious disease
def: "An infection that is caused by Chlamydia trachomatis." [NCIT:C34463]
synonym: "chlamydia" RELATED [DOID:11263]
synonym: "Chlamydia trachomatis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia trachomatis disease or disorder" EXACT []
synonym: "Chlamydia trachomatis infectious disease" EXACT [DOID:11263]
synonym: "chlamydia trachomatis infectious disease" EXACT []
synonym: "chlamydial disease" EXACT [CSP2005:0638-2797, DOID:11263]
synonym: "Chlamydial infection" EXACT [DOID:11263, NCIT:C34463]
xref: COHD:438066 {source="MONDO:equivalentTo"}
xref: DOID:11263 {source="EFO:0007205", source="MONDO:equivalentTo"}
xref: EFO:0007205 {source="MONDO:equivalentTo"}
xref: ICD9:078.88 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:079.88 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:079.98 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34463 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:105629000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000315 {source="DOID:11263"} ! commensal bacterial infectious disease
is_a: MONDO:0021697 ! chlamydia infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008149
property_value: exactMatch DOID:11263
property_value: exactMatch http://identifiers.org/snomedct/105629000
property_value: exactMatch NCIT:C34463

[Term]
id: MONDO:0005702
name: obsolete chromoblastomycosis
def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." [EFO:0007207]
is_obsolete: true
replaced_by: MONDO:0015908

[Term]
id: MONDO:0005703
name: obsolete Churg-Strauss syndrome
is_obsolete: true
replaced_by: MONDO:0015943

[Term]
id: MONDO:0005704
name: Ciliophora infectious disease
def: "Infections with protozoa of the phylum ciliophora." [MESH:D016770]
synonym: "Ciliophora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ciliophora disease or disorder" EXACT []
xref: EFO:0007209 {source="MONDO:equivalentTo"}
xref: MESH:D016770 {source="EFO:0007209", source="MONDO:equivalentTo"}
xref: UMLS:C0085308 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="EFO:0007209", source="MONDO:Redundant"} ! infectious disease
property_value: closeMatch DOID:2788
property_value: exactMatch http://identifiers.org/mesh/D016770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085308

[Term]
id: MONDO:0005705
name: clonorchiasis
def: "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" [MESH:D003003]
synonym: "Oriental liver fluke disease" EXACT [DOID:13767, MTHICD9_2006:121.1]
xref: COHD:194280 {source="MONDO:equivalentTo"}
xref: DOID:13767 {source="MONDO:equivalentTo", source="EFO:0007210"}
xref: EFO:0007210 {source="MONDO:equivalentTo"}
xref: ICD10:B66.1 {source="DOID:13767", source="MONDO:equivalentTo"}
xref: ICD9:121.1 {source="DOID:13767", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003003 {source="DOID:13767", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007210"}
xref: SCTID:11938002 {source="DOID:13767", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0009021 {source="DOID:13767", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:13767", source="ICD10:B66.1/inferred", source="MESH:D003003/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: exactMatch DOID:13767
property_value: exactMatch http://identifiers.org/mesh/D003003
property_value: exactMatch http://identifiers.org/snomedct/11938002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009021

[Term]
id: MONDO:0005706
name: coccidioidomycosis
def: "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." [NCIT:P378]
subset: ordo_disease {source="Orphanet:228123"}
synonym: "California disease" EXACT [Orphanet:228123]
synonym: "Coccidioides immitis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Coccidioides immitis disease or disorder" EXACT []
synonym: "Coccidioides immitis infectious disease" EXACT []
synonym: "Coccidioides infection" EXACT [Orphanet:228123]
synonym: "desert fever" EXACT [Orphanet:228123]
synonym: "desert rheumatism" EXACT [Orphanet:228123]
synonym: "primary extrapulmonary coccidioidomycosis" EXACT [DOID:13450]
synonym: "San Joaquin valley fever" EXACT [Orphanet:228123]
synonym: "Valley fever" EXACT [Orphanet:228123]
xref: COHD:437217 {source="MONDO:equivalentTo"}
xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"}
xref: EFO:0007211 {source="MONDO:equivalentTo"}
xref: GARD:0009525 {source="MONDO:equivalentTo"}
xref: ICD10:B38 {source="MONDO:equivalentTo", source="DOID:13450"}
xref: ICD10:B38.0 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.1 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.2 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.3 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.4 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.7 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.8 {source="ORDO:228123/btnt", source="Orphanet:228123"}
xref: ICD10:B38.9 {source="ORDO:228123/btnt", source="DOID:13450", source="Orphanet:228123"}
xref: ICD9:114 {source="DOID:13450"}
xref: ICD9:114.1 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:114.9 {source="DOID:13450"}
xref: MedDRA:10009825 {source="ORDO:228123/e", source="Orphanet:228123"}
xref: MESH:D003047 {source="MONDO:equivalentTo", source="DOID:13450", source="ORDO:228123/e", source="MONDO:ontobio", source="Orphanet:228123", source="EFO:0007211"}
xref: NCIT:C84642 {source="MONDO:equivalentTo", source="DOID:13450", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:228123 {source="MONDO:equivalentTo"}
xref: SCTID:23247008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.18"}
xref: UMLS:C0009186 {source="MONDO:equivalentTo", source="DOID:13450", source="ORDO:228123/e", source="Orphanet:228123", source="NCIT:C84642"}
xref: UMLS:C0700644 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN201384 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000308 {source="DOID:13450"} ! primary systemic mycosis
is_a: MONDO:0005135 {source="Orphanet:228123"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154408001
property_value: closeMatch http://identifiers.org/snomedct/187025009
property_value: closeMatch http://identifiers.org/snomedct/187035003
property_value: closeMatch http://identifiers.org/snomedct/187481007
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: closeMatch http://identifiers.org/snomedct/442543009
property_value: closeMatch http://identifiers.org/snomedct/60826002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153257
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0851907
property_value: exactMatch DOID:13450
property_value: exactMatch http://identifiers.org/meddra/10009825
property_value: exactMatch http://identifiers.org/mesh/D003047
property_value: exactMatch http://identifiers.org/snomedct/23247008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009186
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201384
property_value: exactMatch NCIT:C84642
property_value: exactMatch Orphanet:228123

[Term]
id: MONDO:0005707
name: coccidiosis
def: "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." [NCIT:P378]
synonym: "coccidiosis (& [intestinal])" EXACT [DOID:2113]
synonym: "intestinal coccidiosis" RELATED [DOID:2113]
xref: COHD:433401 {source="MONDO:equivalentTo"}
xref: DOID:2113 {source="MONDO:equivalentTo", source="EFO:0007212"}
xref: EFO:0007212 {source="MONDO:equivalentTo"}
xref: ICD9:007.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003048 {source="DOID:2113", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007212"}
xref: NCIT:C34493 {source="DOID:2113", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:62005008 {source="MONDO:kboom-pr-0.92/0.67/1.64", source="DOID:2113", source="MONDO:equivalentTo"}
xref: UMLS:C0009187 {source="NCIT:C34493", source="DOID:2113", source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="DOID:2113", source="MESH:D003048", source="NCIT:C34493"} ! protozoa infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186125004
property_value: exactMatch DOID:2113
property_value: exactMatch http://identifiers.org/mesh/D003048
property_value: exactMatch http://identifiers.org/snomedct/62005008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009187
property_value: exactMatch NCIT:C34493

[Term]
id: MONDO:0005708
name: Colorado tick fever
def: "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." [MESH:D003121]
comment: Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature
subset: ordo_disease {source="Orphanet:83595"}
synonym: "American mountain fever" EXACT [Orphanet:83595]
synonym: "Colorado tick encephalitis" EXACT [Orphanet:83595]
synonym: "Colorado tick fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Colorado tick fever virus disease or disorder" EXACT []
synonym: "Colorado tick fever virus infectious disease" EXACT []
synonym: "Colorado tick-borne disease" EXACT [Orphanet:83595]
synonym: "Mountain fever" EXACT [Orphanet:83595]
synonym: "Mountain tick fever" EXACT [Orphanet:83595]
synonym: "Tick fever, American mountain" EXACT [DOID:4885, MTHICD9_2006:066.1]
xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"}
xref: EFO:0007213 {source="MONDO:equivalentTo"}
xref: ICD10:A93.2 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="ORDO:83595/ntbt"}
xref: ICD9:066.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10010022 {source="Orphanet:83595", source="ORDO:83595/e"}
xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:83595/e"}
xref: Orphanet:83595 {source="MONDO:equivalentTo"}
xref: SCTID:6452009 {source="DOID:4885", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0009400 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="ORDO:83595/e"}
is_a: MONDO:0005939 ! Reoviridae infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83595"} ! viral encephalitis
is_a: MONDO:0015659 {source="Orphanet:83595"} ! infectious disease with epilepsy
is_a: MONDO:0100120 ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/186607005
property_value: exactMatch DOID:4885
property_value: exactMatch http://identifiers.org/meddra/10010022
property_value: exactMatch http://identifiers.org/mesh/D003121
property_value: exactMatch http://identifiers.org/snomedct/6452009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009400
property_value: exactMatch Orphanet:83595

[Term]
id: MONDO:0005709
name: common cold
def: "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." [NCIT:P378]
synonym: "acute coryza" EXACT [DOID:10459]
synonym: "acute nasopharyngitis" EXACT [DOID:10459, NCIT:C34500]
synonym: "acute nasopharyngitis [common cold]" EXACT [DOID:10459, ICD9CM_2006:460]
synonym: "acute rhinitis" EXACT [DOID:10459]
synonym: "acute viral rhinopharyngitis" EXACT [DOID:10459]
synonym: "nasopharyngitis - acute" EXACT [DOID:10459]
synonym: "nasopharyngitis, acute" EXACT [DOID:10459, MTHICD9_2006:460]
synonym: "rhino-sinusitis" EXACT [DOID:10459]
xref: COHD:260427 {source="MONDO:equivalentTo"}
xref: DOID:10459 {source="EFO:0007214", source="MONDO:equivalentTo"}
xref: EFO:0007214 {source="MONDO:equivalentTo"}
xref: ICD10:J00 {source="DOID:10459"}
xref: ICD9:460 {source="DOID:10459", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003139 {source="EFO:0007214", source="DOID:10459", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34500 {source="DOID:10459", source="MONDO:kboom-pr-1.00/0.91/26.58", source="MONDO:equivalentTo"}
xref: SCTID:82272006 {source="DOID:10459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0009443 {source="DOID:10459", source="MONDO:equivalentTo", source="NCIT:C34500"}
is_a: MONDO:0001040 {source="NCIT:C34500"} ! nasopharyngitis
relationship: has_modifier MONDO:0021137 ! not rare
property_value: closeMatch http://identifiers.org/snomedct/155497009
property_value: closeMatch http://identifiers.org/snomedct/195648002
property_value: closeMatch http://identifiers.org/snomedct/232341009
property_value: closeMatch http://identifiers.org/snomedct/232342002
property_value: closeMatch http://identifiers.org/snomedct/266377009
property_value: closeMatch http://identifiers.org/snomedct/54150009
property_value: closeMatch NCIT:C78599
property_value: exactMatch DOID:10459
property_value: exactMatch http://identifiers.org/mesh/D003139
property_value: exactMatch http://identifiers.org/snomedct/82272006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009443
property_value: exactMatch NCIT:C34500

[Term]
id: MONDO:0005710
name: composite lymphoma
def: "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." [NCIT:C38661]
subset: ordo_disease {source="Orphanet:168966"}
synonym: "composite Hodgkin and non-Hodgkin lymphoma" EXACT [Orphanet:168966]
synonym: "composite lymphoma" EXACT [NCIT:C38661]
xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"}
xref: EFO:0007215 {source="MONDO:equivalentTo"}
xref: ICDO:9596/3 {source="NCIT:C38661"}
xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966", source="MONDO:ontobio"}
xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:168966 {source="MONDO:equivalentTo"}
xref: UMLS:C0545080 {source="NCIT:C38661", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"}
xref: UMLS:C1266191 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"}
is_a: MONDO:0005062 {source="DOID:5820/inferred", source="EFO:0007215", source="MESH:D058617", source="NCIT:C38661", source="Orphanet:168966"} ! lymphoma
property_value: exactMatch DOID:5820
property_value: exactMatch http://identifiers.org/mesh/D058617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0545080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266191
property_value: exactMatch NCIT:C38661
property_value: exactMatch Orphanet:168966

[Term]
id: MONDO:0005711
name: congenital diaphragmatic hernia
def: "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." [Orphanet:2140]
subset: ordo_morphological_anomaly {source="Orphanet:2140"}
synonym: "agenesis of hemidiaphragm" RELATED [GARD:0001481]
synonym: "CDH" EXACT [Orphanet:2140]
synonym: "congenital diaphragmatic defect" RELATED [GARD:0001481]
synonym: "diaphragmatic hernia" EXACT [DOID:3827, NCIT:C34687]
synonym: "unilateral agenesis of diaphragm" RELATED [GARD:0001481]
xref: COHD:4066010 {source="MONDO:equivalentTo"}
xref: DOID:3827 {source="EFO:0007216", source="MONDO:equivalentTo"}
xref: EFO:0007216 {source="MONDO:equivalentTo"}
xref: GARD:0001481 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K44 {source="DOID:3827"}
xref: ICD10:K44.9 {source="DOID:3827"}
xref: ICD10:Q79.0 {source="Orphanet:2140", source="ORDO:2140/e"}
xref: MedDRA:10010439 {source="Orphanet:2140", source="ORDO:2140/e"}
xref: NCIT:C98893 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="MONDO:equivalentTo", source="DOID:3827"}
xref: UMLS:C0235833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:2140", source="ORDO:2140/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005728 {source="DOID:3827", source="EFO:0007216", source="EFO:0007216/inferred"} ! diaphragm disease
is_a: MONDO:0015215 {source="Orphanet:2140"} ! non-syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015879 {source="Orphanet:2140"} ! non-syndromic diaphragmatic or thoracic malformation
property_value: closeMatch http://identifiers.org/mesh/D006548
property_value: closeMatch http://identifiers.org/snomedct/155748004
property_value: closeMatch http://identifiers.org/snomedct/155750007
property_value: closeMatch http://identifiers.org/snomedct/196901006
property_value: closeMatch http://identifiers.org/snomedct/196911004
property_value: closeMatch http://identifiers.org/snomedct/196912006
property_value: closeMatch http://identifiers.org/snomedct/266444006
property_value: closeMatch http://identifiers.org/snomedct/266511003
property_value: closeMatch http://identifiers.org/snomedct/39839004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019284
property_value: closeMatch NCIT:C34687
property_value: exactMatch DOID:3827
property_value: exactMatch http://identifiers.org/meddra/10010439
property_value: exactMatch http://identifiers.org/mesh/C538080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235833
property_value: exactMatch NCIT:C98893
property_value: exactMatch Orphanet:2140

[Term]
id: MONDO:0005712
name: congenital nystagmus
def: "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" [MESH:D020417]
synonym: "congenital pathologic nystagmus" EXACT [MONDO:patterns/congenital]
synonym: "nystagmus" BROAD [MONDO:ambiguous]
synonym: "nystagmus, congenital" EXACT [OMIMPS:310700]
xref: COHD:373489 {source="MONDO:equivalentTo"}
xref: DC:0000328 {source="MONDO:equivalentTo"}
xref: DOID:9649 {source="EFO:0007217", source="MONDO:equivalentTo"}
xref: EFO:0007217 {source="MONDO:equivalentTo"}
xref: HP:0000639 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H55.01 {source="DOID:9649", source="MONDO:equivalentTo"}
xref: ICD9:379.51 {source="DOID:9649", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020417 {source="DOID:9649", source="EFO:0007217", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:310700 {source="MONDO:equivalentTo", source="DC:0000328"}
xref: SCTID:64635004 {source="DOID:9649", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004843 {source="DOID:9649", source="MESH:D020417"} ! pathologic nystagmus
intersection_of: MONDO:0004843 ! pathologic nystagmus
intersection_of: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch http://identifiers.org/snomedct/155205009
property_value: closeMatch http://identifiers.org/snomedct/194173005
property_value: closeMatch http://identifiers.org/snomedct/267750005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700501
property_value: closeMatch Orphanet:651
property_value: exactMatch DOID:9649
property_value: exactMatch http://identifiers.org/mesh/D020417
property_value: exactMatch http://identifiers.org/snomedct/64635004

[Term]
id: MONDO:0005713
name: congenital rubella
def: "A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy." [NCIT:P378]
synonym: "congenital rubella" EXACT [MONDO:patterns/congenital]
synonym: "congenital Rubella syndrome" EXACT [NCIT:C34992]
xref: EFO:0007218 {source="MONDO:equivalentTo"}
xref: NCIT:C34992 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
is_a: MONDO:0004656 {source="NCIT:C34992"} ! rubella
intersection_of: MONDO:0004656 ! rubella
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch DOID:9228
property_value: exactMatch NCIT:C34992

[Term]
id: MONDO:0005714
name: congenital syphilis
def: "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." [NCIT:P378]
subset: ordo_disease
synonym: "congenital syphilis" EXACT [MONDO:patterns/congenital]
synonym: "mother-to-child transmission of syphilis" EXACT [Orphanet:499009]
synonym: "MTCT of syphilis" EXACT [Orphanet:499009]
xref: COHD:434279 {source="MONDO:equivalentTo"}
xref: DOID:9856 {source="MONDO:equivalentTo", source="EFO:0007219"}
xref: EFO:0007219 {source="MONDO:equivalentTo"}
xref: ICD10:A50 {source="DOID:9856", source="MONDO:equivalentTo"}
xref: ICD10:A50.9 {source="DOID:9856"}
xref: ICD9:090 {source="DOID:9856"}
xref: ICD9:090.9 {source="DOID:9856", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013590 {source="DOID:9856", source="MONDO:equivalentTo", source="EFO:0007219", source="MONDO:ontobio"}
xref: NCIT:C84649 {source="DOID:9856", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:499009 {source="MONDO:equivalentTo"}
xref: SCTID:35742006 {source="DOID:9856", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0039131 {source="DOID:9856", source="NCIT:C84649", source="MONDO:equivalentTo"}
is_a: MONDO:0005976 {source="DOID:9856", source="EFO:0007219", source="MESH:D013590", source="NCIT:C84649", source="linkedlifedata"} ! syphilis
is_a: MONDO:0016511 {source="Orphanet:499009"} ! infectious embryofetopathy
intersection_of: MONDO:0005976 ! syphilis
intersection_of: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch http://identifiers.org/snomedct/154380005
property_value: closeMatch http://identifiers.org/snomedct/186845009
property_value: closeMatch http://identifiers.org/snomedct/187352005
property_value: exactMatch DOID:9856
property_value: exactMatch http://identifiers.org/mesh/D013590
property_value: exactMatch http://identifiers.org/snomedct/35742006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039131
property_value: exactMatch NCIT:C84649
property_value: exactMatch Orphanet:499009

[Term]
id: MONDO:0005715
name: congenital toxoplasmosis
def: "Toxoplasma infection that is present from birth." [NCIT:P378]
subset: ordo_disease {source="Orphanet:858"}
synonym: "congenital toxoplasmosis" EXACT [DOID:13336, MONDO:patterns/congenital, MTHICD9_2006:771.2]
synonym: "mother-to-child transmission of toxoplasmosis" EXACT [Orphanet:858]
synonym: "Toxoplasma embryofetopathy" EXACT [Orphanet:858]
synonym: "Toxoplasma embryopathy" EXACT [Orphanet:858]
synonym: "toxoplasmosis - congen." EXACT [DOID:13336]
synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503]
xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"}
xref: EFO:0007220 {source="MONDO:equivalentTo"}
xref: GARD:0010326 {source="MONDO:equivalentTo"}
xref: ICD10:P37.1 {source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="DOID:13336"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10010652 {source="ORDO:858/e", source="Orphanet:858"}
xref: MESH:D014125 {source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="MONDO:ontobio", source="EFO:0007220", source="DOID:13336"}
xref: NCIT:C50503 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:13336"}
xref: Orphanet:858 {source="MONDO:equivalentTo"}
xref: SCTID:73893000 {source="MONDO:equivalentTo", source="DOID:13336", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0040560 {source="NCIT:C50503", source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="DOID:13336"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005989 {source="DOID:13336", source="MESH:D014125", source="NCIT:C50503", source="linkedlifedata"} ! toxoplasmosis
is_a: MONDO:0015659 {source="Orphanet:858"} ! infectious disease with epilepsy
is_a: MONDO:0016511 {source="Orphanet:858"} ! infectious embryofetopathy
intersection_of: MONDO:0005989 ! toxoplasmosis
intersection_of: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch http://identifiers.org/snomedct/157118007
property_value: closeMatch http://identifiers.org/snomedct/206335001
property_value: closeMatch http://identifiers.org/snomedct/268875000
property_value: exactMatch DOID:13336
property_value: exactMatch http://identifiers.org/meddra/10010652
property_value: exactMatch http://identifiers.org/mesh/D014125
property_value: exactMatch http://identifiers.org/snomedct/73893000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040560
property_value: exactMatch NCIT:C50503
property_value: exactMatch Orphanet:858

[Term]
id: MONDO:0005716
name: contagious pleuropneumonia
def: "A pleuropneumonia of cattle and goats caused by species of mycoplasma." [MESH:D011002]
xref: EFO:0007221 {source="MONDO:equivalentTo"}
xref: MESH:D011002 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007221"}
xref: UMLS:C0032243 {source="MONDO:equivalentTo"}
is_a: MONDO:0005249 {source="EFO:0007221"} ! pneumonia
property_value: closeMatch DOID:5460
property_value: exactMatch http://identifiers.org/mesh/D011002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032243

[Term]
id: MONDO:0005717
name: contagious pustular dermatitis
def: "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." [MESH:D004474]
synonym: "ecthyma contagiosum" EXACT [DOID:8771, MTHICD9_2006:051.2]
synonym: "ecthyma, Contagious" EXACT [DOID:8771, MTH:NOCODE]
synonym: "Orf" EXACT [DOID:8771]
synonym: "scabby mouth" EXACT [DOID:8771]
synonym: "sheep pox" EXACT [DOID:8771]
synonym: "thistle disease" EXACT [DOID:8771]
xref: DOID:8771 {source="MONDO:equivalentTo", source="EFO:0007222"}
xref: EFO:0007222 {source="MONDO:equivalentTo"}
xref: ICD10:B08.02 {source="DOID:8771"}
xref: ICD9:051.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:8771"}
xref: MESH:D004474 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8771", source="EFO:0007222"}
xref: SCTID:74050005 {source="MONDO:equivalentTo", source="DOID:8771", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0013570 {source="MONDO:equivalentTo", source="DOID:8771"}
is_a: MONDO:0005108 {source="DOID:8771", source="EFO:0007222", source="MESH:D004474/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:8771
property_value: exactMatch http://identifiers.org/mesh/D004474
property_value: exactMatch http://identifiers.org/snomedct/74050005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013570

[Term]
id: MONDO:0005718
name: Coronaviridae infectious disease
def: "Virus diseases caused by coronaviridae." [MESH:D003333]
xref: EFO:0007223 {source="MONDO:equivalentTo"}
xref: UMLS:C0010078 {source="MONDO:equivalentTo"}
is_a: MONDO:0005876 ! Nidovirales infectious disease
property_value: closeMatch DOID:2948
property_value: closeMatch http://identifiers.org/mesh/D003333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010078

[Term]
id: MONDO:0005719
name: Coronavinae infectious disease
def: "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." [MESH:D018352]
xref: EFO:0007224 {source="MONDO:equivalentTo"}
xref: MESH:D018352 {source="EFO:0007224", source="MONDO:equivalentTo"}
is_a: MONDO:0005718 ! Coronaviridae infectious disease
property_value: closeMatch DOID:2946
property_value: exactMatch http://identifiers.org/mesh/D018352

[Term]
id: MONDO:0005720
name: cowpox
def: "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." [MESH:D015605]
synonym: "yaba" EXACT [CSP2005:3100-0734, DOID:8956]
xref: DOID:8956 {source="EFO:0007225", source="MONDO:equivalentTo"}
xref: EFO:0007225 {source="MONDO:equivalentTo"}
xref: ICD10:B08.010 {source="DOID:8956", source="MONDO:equivalentTo"}
xref: ICD9:051.01 {source="DOID:8956"}
xref: MESH:D015605 {source="EFO:0007225", source="DOID:8956", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:70090004 {source="DOID:8956", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0010232 {source="DOID:8956", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:8956", source="EFO:0007225", source="MESH:D015605/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:8956
property_value: exactMatch http://identifiers.org/mesh/D015605
property_value: exactMatch http://identifiers.org/snomedct/70090004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010232

[Term]
id: MONDO:0005721
name: coxsackievirus infectious disease
def: "A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis." [MESH:D003384]
xref: EFO:0007226 {source="MONDO:equivalentTo"}
xref: MESH:D003384 {source="EFO:0007226", source="MONDO:equivalentTo"}
xref: UMLS:C0010246 {source="MONDO:equivalentTo"}
is_a: MONDO:0005747 ! enterovirus infectious disease
property_value: closeMatch DOID:10545
property_value: exactMatch http://identifiers.org/mesh/D003384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010246

[Term]
id: MONDO:0005722
name: croup
def: "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." [NCIT:C26735]
synonym: "acute laryngotracheitis" RELATED []
synonym: "acute laryngotracheobronchitis" EXACT [DOID:9395, http://cmr.asm.org/content/16/2/242.full]
synonym: "acute laryngotracheobronchitis" RELATED []
synonym: "acute obstructive laryngitis" EXACT [DOID:9395, NCIT:C26735]
synonym: "croup syndrome" EXACT [DOID:9395, MTHICD9_2006:464.4]
xref: COHD:260134 {source="MONDO:equivalentTo"}
xref: DOID:9395 {source="EFO:0007227", source="MONDO:equivalentTo"}
xref: EFO:0007227 {source="MONDO:equivalentTo"}
xref: ICD10:J05.0 {source="DOID:9395"}
xref: ICD9:464.4 {source="MONDO:equivalentTo", source="DOID:9395", source="i2s"}
xref: MESH:D003440 {source="EFO:0007227", source="MONDO:equivalentTo", source="DOID:9395"}
xref: NCIT:C26735 {source="MONDO:equivalentTo", source="DOID:9395", source="MONDO:kboom-pr-0.92/0.82/0.20"}
xref: SCTID:71186008 {source="MONDO:equivalentTo", source="DOID:9395", source="MONDO:kboom-pr-0.85/0.68/0.17"}
xref: UMLS:C0010380 {source="MONDO:equivalentTo", source="DOID:9395", source="NCIT:C26735"}
is_a: MONDO:0000263 ! laryngotracheitis
is_a: MONDO:0003781 ! bronchitis
is_a: MONDO:0004777 {source="NCIT:C26735"} ! acute laryngitis
property_value: closeMatch http://identifiers.org/snomedct/155510007
property_value: closeMatch http://identifiers.org/snomedct/195702002
property_value: exactMatch DOID:9395
property_value: exactMatch http://identifiers.org/mesh/D003440
property_value: exactMatch http://identifiers.org/snomedct/71186008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010380
property_value: exactMatch NCIT:C26735

[Term]
id: MONDO:0005723
name: Cryptococcal meningitis
def: "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" [MESH:D016919]
synonym: "Cryptococcus neoformans caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptococcus neoformans infectious meningitis" EXACT []
xref: COHD:432310 {source="MONDO:equivalentTo"}
xref: DOID:0080159 {source="MONDO:equivalentTo"}
xref: EFO:0007228 {source="MONDO:equivalentTo"}
xref: ICD9:321.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016919 {source="EFO:0007228", source="MONDO:equivalentTo", source="DOID:0080159", source="MONDO:ontobio"}
xref: SCTID:14232007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005724 ! cryptococcosis
is_a: MONDO:0006764 {source="DOID:0080159", source="MESH:D016919", source="MONDO:Redundant", source="linkedlifedata"} ! fungal meningitis
property_value: closeMatch DOID:12052
property_value: exactMatch DOID:0080159
property_value: exactMatch http://identifiers.org/mesh/D016919
property_value: exactMatch http://identifiers.org/snomedct/14232007

[Term]
id: MONDO:0005724
name: cryptococcosis
def: "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" [NCIT:P378]
subset: gard_rare {source="GARD:0006218"}
subset: ordo_disease {source="Orphanet:1546"}
synonym: "Busse-Buschke's disease" EXACT [DOID:12053]
synonym: "Cryptococcal infection" EXACT [DOID:12053]
synonym: "Cryptococcus neoformans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptococcus neoformans disease or disorder" EXACT []
synonym: "cryptococcus neoformans infection" RELATED [DOID:12053]
synonym: "Cryptococcus neoformans infectious disease" EXACT []
synonym: "European cryptococcosis" EXACT [DOID:12053, MTHICD9_2006:117.5]
synonym: "torula" EXACT [CSP2005:1198-5059, DOID:12053]
synonym: "torulosis" EXACT [CSP2005:1988-4587, DOID:12053]
xref: COHD:440035 {source="MONDO:equivalentTo"}
xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"}
xref: EFO:0007229 {source="MONDO:equivalentTo"}
xref: GARD:0006218 {source="MONDO:equivalentTo"}
xref: ICD10:B45 {source="MONDO:equivalentTo", source="DOID:12053"}
xref: ICD10:B45.0 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.1 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.2 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.3 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.7 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.8 {source="ORDO:1546/btnt", source="Orphanet:1546"}
xref: ICD10:B45.9 {source="ORDO:1546/btnt", source="DOID:12053", source="Orphanet:1546"}
xref: ICD9:117.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:12053"}
xref: MedDRA:10011490 {source="ORDO:1546/e", source="Orphanet:1546"}
xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="ORDO:1546/e", source="DOID:12053", source="Orphanet:1546", source="MONDO:ontobio"}
xref: NCIT:C2967 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12053"}
xref: Orphanet:1546 {source="MONDO:equivalentTo"}
xref: SCTID:42386007 {source="MONDO:kboom-pr-1.00/0.79/8.45", source="MONDO:equivalentTo", source="DOID:12053"}
xref: UMLS:C0010414 {source="NCIT:C2967", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546"}
is_a: MONDO:0002312 {source="DOID:12053", source="MONDO:Redundant"} ! opportunistic mycosis
is_a: MONDO:0005135 {source="Orphanet:1546"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187090005
property_value: closeMatch http://identifiers.org/snomedct/187097008
property_value: closeMatch http://identifiers.org/snomedct/187494009
property_value: closeMatch http://identifiers.org/snomedct/20850004
property_value: exactMatch DOID:12053
property_value: exactMatch http://identifiers.org/meddra/10011490
property_value: exactMatch http://identifiers.org/mesh/D003453
property_value: exactMatch http://identifiers.org/snomedct/42386007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010414
property_value: exactMatch NCIT:C2967
property_value: exactMatch Orphanet:1546
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis xsd:anyURI {source="GARD:0006218"}

[Term]
id: MONDO:0005725
name: cyclosporiasis
def: "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." [NCIT:C128409]
synonym: "Cyclospora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyclospora disease or disorder" EXACT []
synonym: "Cyclospora infection" RELATED [GARD:0009528]
synonym: "Cyclospora infectious disease" EXACT []
xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"}
xref: EFO:0007230 {source="MONDO:equivalentTo"}
xref: GARD:0009528 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"}
xref: ICD9:007.5 {source="DOID:12750"}
xref: MESH:D021866 {source="MONDO:equivalentTo", source="EFO:0007230", source="MONDO:ontobio", source="DOID:12750"}
xref: NCIT:C128409 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:240372001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12750"}
xref: UMLS:C0343398 {source="MONDO:equivalentTo", source="DOID:12750", source="NCIT:C128409"}
is_a: MONDO:0005707 {source="DOID:12750", source="MESH:D021866", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis
property_value: exactMatch DOID:12750
property_value: exactMatch http://identifiers.org/mesh/D021866
property_value: exactMatch http://identifiers.org/snomedct/240372001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343398
property_value: exactMatch NCIT:C128409

[Term]
id: MONDO:0005726
name: obsolete cysticercosis
is_obsolete: true
replaced_by: MONDO:0015484

[Term]
id: MONDO:0005727
name: obsolete cystoisosporiasis
is_obsolete: true
replaced_by: MONDO:0018769

[Term]
id: MONDO:0005728
name: diaphragm disease
def: "A disease involving the diaphragm." [MONDO:DesignPattern]
synonym: "diaphragm disease" EXACT [MONDO:patterns/location]
synonym: "diaphragm disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "diaphragmatic disease" RELATED []
synonym: "diaphragmatic disorder" RELATED []
synonym: "disease of diaphragm" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of diaphragm" EXACT []
synonym: "disorder of diaphragm" EXACT [MONDO:patterns/location_top]
synonym: "disorder of diaphragm" RELATED [MONDO:patterns/location_top]
xref: DOID:10481 {source="MONDO:equivalentTo"}
xref: EFO:0007233 {source="MONDO:equivalentTo"}
xref: ICD10:J98.6 {source="DOID:10481"}
xref: ICD9:519.4 {source="DOID:10481"}
xref: SCTID:48475001 {source="MONDO:equivalentTo", source="DOID:10481"}
xref: UMLS:C0152097 {source="MONDO:equivalentTo", source="DOID:10481"}
is_a: MONDO:0000651 ! thoracic disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system disease
is_a: MONDO:0020120 {source="linkedlifedata"} ! skeletal muscle disease
property_value: closeMatch http://identifiers.org/mesh/NoID
property_value: closeMatch http://identifiers.org/snomedct/196182001
property_value: exactMatch DOID:10481
property_value: exactMatch http://identifiers.org/snomedct/48475001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152097

[Term]
id: MONDO:0005729
name: dicrocoeliasis
def: "Infection with flukes of the genus Dicrocoelium." [MESH:D004011]
synonym: "Dicrocoelium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dicrocoelium disease or disorder" EXACT []
synonym: "Dicrocoelium infectious disease" EXACT []
synonym: "disease due to Dicrocoeliidae" EXACT [DOID:1219]
xref: DOID:1219 {source="MONDO:equivalentTo", source="EFO:0007234"}
xref: EFO:0007234 {source="MONDO:equivalentTo"}
xref: ICD10:B66.2 {source="DOID:1219"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004011 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1219", source="EFO:0007234"}
xref: SCTID:105668007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0012102 {source="MONDO:equivalentTo", source="DOID:1219"}
xref: UMLS:C1737210 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:1219", source="MESH:D004011/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/8410006
property_value: exactMatch DOID:1219
property_value: exactMatch http://identifiers.org/mesh/D004011
property_value: exactMatch http://identifiers.org/snomedct/105668007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1737210

[Term]
id: MONDO:0005730
name: Dictyocaulus infectious disease
alt_id: MONDO:0025190
def: "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." [MESH:D004022]
synonym: "Dictyocauliases" RELATED [MESH:D004022]
synonym: "Dictyocauliasis" RELATED [MESH:D004022]
synonym: "Dictyocaulus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dictyocaulus disease or disorder" EXACT []
synonym: "Dictyocaulus infection" RELATED [MESH:D004022]
synonym: "infection, Dictyocaulus" RELATED [MESH:D004022]
synonym: "infections, Dictyocaulus" RELATED [MESH:D004022]
xref: EFO:0007235 {source="MONDO:equivalentTo"}
xref: MESH:D004022 {source="EFO:0007235", source="MONDO:equivalentTo"}
xref: UMLS:C0012118 {source="MONDO:equivalentTo"}
is_a: MONDO:0005994 {source="MESH:D004022", source="MONDO:Redundant"} ! trichostrongyloidiasis
is_a: MONDO:0025082 {source="MESH:D004022"} ! helminthiasis, animal
property_value: closeMatch DOID:4754
property_value: exactMatch http://identifiers.org/mesh/D004022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012118

[Term]
id: MONDO:0005731
name: dipetalonemiasis
def: "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." [NCIT:P378]
comment: Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms
subset: gard_rare
synonym: "Acanthocheilonema perstans infection" RELATED [GARD:0000004]
synonym: "Acanthocheilonemiasis" RELATED [GARD:0000004]
synonym: "Dipetalonema infection" EXACT [NCIT:C34540]
synonym: "Dipetalonema infections" EXACT [GARD:0000004, NCIT:C34540]
synonym: "Dipetalonema infectious disease" EXACT [DOID:14422]
synonym: "dipetalonemiasis" EXACT [GARD:0000004]
synonym: "infection by Dipetalonema" EXACT [DOID:14422]
synonym: "infection by Dipetalonema perstans" EXACT [DOID:14422, MTHICD9_2006:125.4]
synonym: "infection by Dipetalonema perstans (disorder) [ambiguous]" EXACT [DOID:14422]
synonym: "Mansonella perstans" RELATED [GARD:0000004]
synonym: "Mansonella perstans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mansonella perstans disease or disorder" EXACT []
synonym: "Mansonella perstans infectious disease" EXACT []
xref: DOID:14422 {source="EFO:0007237", source="MONDO:equivalentTo"}
xref: EFO:0007237 {source="MONDO:equivalentTo"}
xref: GARD:0000004 {source="MONDO:equivalentTo"}
xref: ICD9:125.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:14422"}
xref: MESH:D004154 {source="EFO:0007237", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14422"}
xref: NCIT:C34540 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:14422"}
xref: SCTID:15629006 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo", source="DOID:14422"}
xref: UMLS:C0012517 {source="MONDO:equivalentTo", source="NCIT:C34540", source="DOID:14422"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
is_a: MONDO:0016075 {source="DOID:14422", source="MESH:D004154", source="linkedlifedata"} ! filariasis
property_value: closeMatch http://identifiers.org/snomedct/360423002
property_value: closeMatch http://identifiers.org/snomedct/40229007
property_value: exactMatch DOID:14422
property_value: exactMatch http://identifiers.org/mesh/D004154
property_value: exactMatch http://identifiers.org/snomedct/15629006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012517
property_value: exactMatch NCIT:C34540

[Term]
id: MONDO:0005732
name: obsolete diphyllobothriasis
is_obsolete: true
replaced_by: MONDO:0015260

[Term]
id: MONDO:0005733
name: obsolete dirofilariasis
is_obsolete: true
replaced_by: MONDO:0015636

[Term]
id: MONDO:0005734
name: dourine
def: "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." [MESH:D004313]
xref: EFO:0007240 {source="MONDO:equivalentTo"}
xref: MESH:D004313 {source="MONDO:equivalentTo", source="EFO:0007240", source="MONDO:ontobio"}
xref: SCTID:15566009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
xref: UMLS:C0013076 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007240", source="MESH:D004313/inferred"} ! non-human animal disease
property_value: closeMatch DOID:13763
property_value: exactMatch http://identifiers.org/mesh/D004313
property_value: exactMatch http://identifiers.org/snomedct/15566009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013076

[Term]
id: MONDO:0005735
name: obsolete dracunculiasis
is_obsolete: true
replaced_by: MONDO:0016472

[Term]
id: MONDO:0005736
name: eastern equine encephalitis
def: "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." [Orphanet:83594]
subset: gard_rare {source="GARD:0010821"}
subset: ordo_disease {source="Orphanet:83594"}
synonym: "Eastern equine encephalomyelitis" EXACT [Orphanet:83594]
synonym: "EEE" RELATED [DOID:10841]
synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841]
xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"}
xref: EFO:0007242 {source="MONDO:equivalentTo"}
xref: GARD:0010821 {source="MONDO:equivalentTo"}
xref: ICD10:A83.2 {source="DOID:10841", source="Orphanet:83594", source="MONDO:equivalentTo", source="ORDO:83594/ntbt"}
xref: ICD9:062.2 {source="DOID:10841"}
xref: MedDRA:10014587 {source="Orphanet:83594", source="ORDO:83594/e"}
xref: MESH:D020242 {source="DOID:10841", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007242"}
xref: Orphanet:83594 {source="MONDO:equivalentTo"}
xref: UMLS:C0153065 {source="DOID:10841", source="Orphanet:83594", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0006009 {source="DOID:10841", source="Orphanet:83594"} ! viral encephalitis
is_a: MONDO:0015659 {source="Orphanet:83594"} ! infectious disease with epilepsy
property_value: closeMatch http://identifiers.org/snomedct/40177004
property_value: closeMatch http://identifiers.org/snomedct/416925005
property_value: closeMatch http://identifiers.org/snomedct/417496004
property_value: exactMatch DOID:10841
property_value: exactMatch http://identifiers.org/meddra/10014587
property_value: exactMatch http://identifiers.org/mesh/D020242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153065
property_value: exactMatch Orphanet:83594
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis xsd:anyURI {source="GARD:0010821"}

[Term]
id: MONDO:0005737
name: Ebola hemorrhagic fever
def: "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." [NCIT:P378]
subset: ordo_disease {source="Orphanet:319218"}
synonym: "Ebola" EXACT [NCIT:C36171]
synonym: "Ebola fever" EXACT [Orphanet:319218]
synonym: "Ebola virus disease" EXACT [DOID:4325, Orphanet:319218]
synonym: "Ebolavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ebolavirus disease or disorder" EXACT []
synonym: "Ebolavirus infectious disease" EXACT []
synonym: "EHF" EXACT [Orphanet:319218]
xref: DOID:4325 {source="MONDO:equivalentTo", source="EFO:0007243"}
xref: EFO:0007243 {source="MONDO:equivalentTo"}
xref: GARD:0002035 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:A98.4 {source="Orphanet:319218", source="DOID:4325", source="ORDO:319218/e"}
xref: MedDRA:10014071 {source="Orphanet:319218", source="ORDO:319218/e"}
xref: MESH:D019142 {source="DOID:4325", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007243"}
xref: NCIT:C36171 {source="DOID:4325", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:319218 {source="MONDO:equivalentTo"}
xref: SCTID:37109004 {source="DOID:4325", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282687 {source="Orphanet:319218", source="DOID:4325", source="MONDO:equivalentTo", source="ORDO:319218/e", source="NCIT:C36171"}
is_a: MONDO:0005762 ! Filoviridae infectious disease
is_a: MONDO:0018087 {source="MESH:D019142", source="NCIT:C36171", source="Orphanet:319218", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0003799 {source="Wikidata"} ! conjunctivitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/123323003
property_value: closeMatch http://identifiers.org/snomedct/186746000
property_value: exactMatch DOID:4325
property_value: exactMatch http://identifiers.org/meddra/10014071
property_value: exactMatch http://identifiers.org/mesh/D019142
property_value: exactMatch http://identifiers.org/snomedct/37109004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282687
property_value: exactMatch NCIT:C36171
property_value: exactMatch Orphanet:319218

[Term]
id: MONDO:0005738
name: echinococcosis
def: "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." [NCIT:P378]
synonym: "echinococcal disease" NARROW [DOID:1496]
synonym: "echinococciasis" RELATED []
synonym: "echinococcosis" EXACT []
synonym: "echinococcosis of liver" EXACT [DOID:1496]
synonym: "echinococcosis, unspecified, of liver" NARROW [DOID:1496, ICD9CM_2006:122.8]
synonym: "Echinococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "echinococcus disease" RELATED []
synonym: "Echinococcus disease or disorder" EXACT []
synonym: "Echinococcus infectious disease" EXACT []
synonym: "hepatic echinococcosis" NARROW [CSP2005:1754-8052, DOID:1496]
synonym: "hydatid disease" NARROW [DOID:1496]
synonym: "hydatid disease" RELATED []
synonym: "hydatidosis" NARROW [DOID:1496]
synonym: "hydatidosis" RELATED []
synonym: "liver echinococcus" EXACT [DOID:1496]
synonym: "pulmonary echinococcosis" NARROW [DOID:1496]
xref: COHD:440043 {source="MONDO:equivalentTo"}
xref: DOID:1496 {source="MONDO:equivalentTo", source="EFO:0007245"}
xref: EFO:0007245 {source="MONDO:equivalentTo"}
xref: ICD10:B67 {source="DOID:1496"}
xref: ICD10:B67.90 {source="DOID:1496"}
xref: ICD9:122 {source="DOID:1496"}
xref: ICD9:122.9 {source="linkedlifedata"}
xref: MESH:D004443 {source="DOID:1496", source="MONDO:equivalentTo", source="EFO:0007245"}
xref: NCIT:C84682 {source="DOID:1496", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:74942003 {source="DOID:1496", source="MONDO:equivalentTo"}
xref: UMLS:C0013502 {source="DOID:1496", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84682"}
is_a: MONDO:0042488 ! Cestode infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154414008
property_value: closeMatch http://identifiers.org/snomedct/187143006
property_value: exactMatch DOID:1496
property_value: exactMatch http://identifiers.org/mesh/D004443
property_value: exactMatch http://identifiers.org/snomedct/74942003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013502
property_value: exactMatch NCIT:C84682

[Term]
id: MONDO:0005739
name: echinostomiasis
def: "Infection by flukes of the genus Echinostoma." [MESH:D004451]
synonym: "Echinostomatoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinostomatoidea disease or disorder" EXACT []
synonym: "Echinostomatoidea infectious disease" EXACT []
synonym: "infection by Echinochasmus" EXACT [DOID:1218]
xref: DOID:1218 {source="EFO:0007246", source="MONDO:equivalentTo"}
xref: EFO:0007246 {source="MONDO:equivalentTo"}
xref: ICD10:B66.8 {source="DOID:1218"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004451 {source="EFO:0007246", source="MONDO:equivalentTo", source="DOID:1218", source="MONDO:ontobio"}
xref: SCTID:52918004 {source="MONDO:equivalentTo", source="DOID:1218", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0013514 {source="MONDO:equivalentTo", source="DOID:1218"}
is_a: MONDO:0004664 {source="DOID:1218", source="MESH:D004451/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/36607007
property_value: exactMatch DOID:1218
property_value: exactMatch http://identifiers.org/mesh/D004451
property_value: exactMatch http://identifiers.org/snomedct/52918004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013514

[Term]
id: MONDO:0005740
name: Echovirus infectious disease
def: "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." [MESH:D004457]
synonym: "echo Virus infection" RELATED [MESH:D004457]
synonym: "echo Virus infections" RELATED [MESH:D004457]
synonym: "Echovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echovirus disease or disorder" EXACT []
synonym: "Echovirus infection" RELATED [MESH:D004457]
synonym: "infection, echo Virus" RELATED [MESH:D004457]
synonym: "infection, Echovirus" RELATED [MESH:D004457]
synonym: "infections, echo Virus" RELATED [MESH:D004457]
synonym: "infections, Echovirus" RELATED [MESH:D004457]
xref: EFO:0007247 {source="MONDO:equivalentTo"}
xref: MESH:D004457 {source="EFO:0007247", source="MONDO:equivalentTo"}
xref: SCTID:271532008 {source="MONDO:equivalentTo"}
xref: UMLS:C0013533 {source="MONDO:equivalentTo"}
is_a: MONDO:0005747 {source="MESH:D004457", source="MONDO:Redundant", source="linkedlifedata"} ! enterovirus infectious disease
property_value: closeMatch DOID:10911
property_value: exactMatch http://identifiers.org/mesh/D004457
property_value: exactMatch http://identifiers.org/snomedct/271532008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013533

[Term]
id: MONDO:0005741
name: egg allergy
def: "Allergic reaction to eggs that is triggered by the immune system." [MESH:D021181]
synonym: "allergy of egg" EXACT [MONDO:patterns/allergy]
synonym: "allergy to eggs" EXACT [DOID:4377]
synonym: "egg allergic disease" EXACT []
xref: COHD:442116 {source="MONDO:equivalentTo"}
xref: DOID:4377 {source="EFO:0007248", source="MONDO:equivalentTo"}
xref: EFO:0007248 {source="MONDO:equivalentTo"}
xref: ICD9:V15.03 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D021181 {source="DOID:4377", source="EFO:0007248", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:91930004 {source="DOID:4377", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0559469 {source="DOID:4377", source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:4377", source="EFO:0007248", source="MESH:D021181", source="linkedlifedata"} ! food allergy
property_value: closeMatch http://identifiers.org/snomedct/157802003
property_value: closeMatch http://identifiers.org/snomedct/213019003
property_value: exactMatch DOID:4377
property_value: exactMatch http://identifiers.org/mesh/D021181
property_value: exactMatch http://identifiers.org/snomedct/91930004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559469

[Term]
id: MONDO:0005742
name: emphysematous cholecystitis
def: "Cholecystitis resulting from infection by gas producing organisms." [NCIT:P378]
synonym: "gaseous pericholecystitis" EXACT [DOID:9765]
xref: DOID:9765 {source="EFO:0007249", source="MONDO:equivalentTo"}
xref: EFO:0007249 {source="MONDO:equivalentTo"}
xref: MESH:D041882 {source="DOID:9765", source="EFO:0007249", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35592 {source="DOID:9765", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:95558008 {source="DOID:9765", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.35"}
xref: UMLS:C0521610 {source="DOID:9765", source="NCIT:C35592", source="MONDO:equivalentTo"}
is_a: MONDO:0002155 {source="DOID:9765", source="MESH:D041882/inferred", source="NCIT:C35592"} ! cholecystitis
is_a: MONDO:0006032 {source="EFO:0007249"} ! cystitis
property_value: exactMatch DOID:9765
property_value: exactMatch http://identifiers.org/mesh/D041882
property_value: exactMatch http://identifiers.org/snomedct/95558008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521610
property_value: exactMatch NCIT:C35592

[Term]
id: MONDO:0005743
name: encephalitozoonosis
def: "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." [MESH:D016890]
synonym: "infection by Encephalitozoon" EXACT [DOID:4270]
xref: DOID:4270 {source="MONDO:equivalentTo", source="EFO:0007250"}
xref: EFO:0007250 {source="MONDO:equivalentTo"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016890 {source="MONDO:equivalentTo", source="EFO:0007250", source="DOID:4270", source="MONDO:ontobio"}
xref: SCTID:12825006 {source="MONDO:equivalentTo", source="DOID:4270", source="MONDO:kboom-pr-1.00/0.74/6.16"}
xref: UMLS:C0085412 {source="MONDO:equivalentTo", source="DOID:4270"}
is_a: MONDO:0005846 {source="DOID:4270", source="MESH:D016890", source="linkedlifedata"} ! microsporidiosis
property_value: exactMatch DOID:4270
property_value: exactMatch http://identifiers.org/mesh/D016890
property_value: exactMatch http://identifiers.org/snomedct/12825006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085412

[Term]
id: MONDO:0005744
name: yolk sac tumor
def: "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." [NCIT:P378]
subset: ordo_disease {source="Orphanet:876"}
synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011]
synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876]
synonym: "hepatoid yolk sac tumour" EXACT [DOID:1911]
synonym: "infantile embryonal carcinoma" NARROW [DOID:1911]
synonym: "yolk Sac neoplasm" EXACT [DOID:1911, NCIT:C3011]
synonym: "yolk Sac tumor" EXACT [NCIT:C3011]
synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495]
synonym: "yolk Sac tumor site unspecified" EXACT [NCIT:C3011]
synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011]
synonym: "yolk Sac tumour site unspecified" EXACT [NCIT:C3011]
xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"}
xref: EFO:0007252 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="Orphanet:876", source="ORDO:876/btnt"}
xref: ICD10:C62.9 {source="Orphanet:876", source="ORDO:876/btnt"}
xref: ICDO:9071/3 {source="NCIT:C3011"}
xref: MedDRA:10048251 {source="ORDO:876/e", source="Orphanet:876"}
xref: NCIT:C3011 {source="MONDO:equivalentTo", source="DOID:1911"}
xref: ONCOTREE:BYST {source="MONDO:equivalentTo"}
xref: Orphanet:876 {source="MONDO:equivalentTo"}
xref: SCTID:404081005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:1911"}
xref: UMLS:C0014145 {source="ORDO:876/e", source="Orphanet:876", source="NCIT:C3011", source="MONDO:equivalentTo", source="DOID:1911"}
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
property_value: closeMatch http://identifiers.org/mesh/D018240
property_value: closeMatch http://identifiers.org/snomedct/74409009
property_value: exactMatch DOID:1911
property_value: exactMatch http://identifiers.org/meddra/10048251
property_value: exactMatch http://identifiers.org/snomedct/404081005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014145
property_value: exactMatch NCIT:C3011
property_value: exactMatch Orphanet:876

[Term]
id: MONDO:0005745
name: Enoplea infectious disease
def: "Infections with nematodes of the order enoplida." [MESH:D017189]
synonym: "Enoplea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enoplea disease or disorder" EXACT []
xref: EFO:0007253 {source="MONDO:equivalentTo"}
xref: MESH:D017189 {source="MONDO:equivalentTo", source="EFO:0007253"}
is_a: MONDO:0005871 ! Nematoda infectious disease
property_value: closeMatch DOID:1253
property_value: exactMatch http://identifiers.org/mesh/D017189

[Term]
id: MONDO:0005746
name: enterobiasis
def: "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." [NCIT:C128396]
synonym: "Enterobius vermicularis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterobius vermicularis disease or disorder" EXACT []
synonym: "Enterobius vermicularis infection" RELATED [DOID:7457]
synonym: "Enterobius vermicularis infectious disease" EXACT []
synonym: "oxyuriasis" RELATED [DOID:7457]
synonym: "Oxyuris vermicularis infection" EXACT [DOID:7457]
synonym: "pinworm infection" RELATED [DOID:7457]
synonym: "threadworm infection" EXACT [DOID:7457, MTHICD9_2006:127.4]
xref: COHD:197223 {source="MONDO:equivalentTo"}
xref: DOID:7457 {source="MONDO:equivalentTo", source="EFO:0007254"}
xref: EFO:0007254 {source="MONDO:equivalentTo"}
xref: ICD10:B80 {source="DOID:7457", source="MONDO:equivalentTo"}
xref: ICD9:127.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C128396 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:266162007 {source="DOID:7457", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0030100 {source="DOID:7457", source="MONDO:equivalentTo"}
xref: UMLS:C0086227 {source="NCIT:C128396", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
relationship: disease_has_feature MONDO:0002203 {source="Wikidata"} ! constipation disorder
property_value: closeMatch http://identifiers.org/mesh/D010123
property_value: closeMatch http://identifiers.org/snomedct/154415009
property_value: closeMatch http://identifiers.org/snomedct/187178006
property_value: closeMatch http://identifiers.org/snomedct/19722001
property_value: closeMatch http://identifiers.org/snomedct/266222003
property_value: exactMatch DOID:7457
property_value: exactMatch http://identifiers.org/snomedct/266162007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086227
property_value: exactMatch NCIT:C128396

[Term]
id: MONDO:0005747
name: enterovirus infectious disease
def: "An disease caused by infection with Enterovirus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "disease caused by enterovirus" RELATED []
synonym: "disease due to enterovirus" EXACT []
synonym: "enteroviral infection" RELATED []
synonym: "Enterovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterovirus disease or disorder" EXACT []
synonym: "Enterovirus infection" RELATED [MESH:D004769]
synonym: "enterovirus infection" RELATED []
synonym: "Enterovirus infectious disease" EXACT []
synonym: "enterovirus infectious disease" EXACT []
synonym: "infection, Enterovirus" RELATED [MESH:D004769]
synonym: "infections, Enterovirus" RELATED [MESH:D004769]
xref: EFO:0007255 {source="MONDO:equivalentTo"}
xref: ICD9:079.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004769 {source="MONDO:equivalentTo", source="EFO:0007255"}
xref: SCTID:53648006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014378 {source="MONDO:equivalentTo"}
is_a: MONDO:0005914 ! Picornaviridae infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch DOID:4808
property_value: exactMatch http://identifiers.org/mesh/D004769
property_value: exactMatch http://identifiers.org/snomedct/53648006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014378

[Term]
id: MONDO:0005748
name: enzootic pneumonia of calves
def: "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species." [MESH:D048089]
xref: EFO:0007256 {source="MONDO:equivalentTo"}
xref: MESH:D048089 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007256"}
xref: UMLS:C0276046 {source="MONDO:equivalentTo"}
is_a: MONDO:0005249 {source="EFO:0007256", source="MESH:D048089/inferred"} ! pneumonia
is_a: MONDO:0005583 {source="MESH:D048089/inferred"} ! non-human animal disease
property_value: closeMatch DOID:13274
property_value: exactMatch http://identifiers.org/mesh/D048089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276046

[Term]
id: MONDO:0005749
name: eosinophilic pneumonia
def: "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." [NCIT:C35150]
synonym: "eosinophilic pneumonia" EXACT [NCIT:C35150]
synonym: "pneumonia, eosinophilic" EXACT [DOID:5870, MTHICD9_2006:518.3]
xref: DOID:5870 {source="EFO:0007257", source="MONDO:equivalentTo"}
xref: EFO:0007257 {source="MONDO:equivalentTo"}
xref: ICD10:J82 {source="DOID:5870"}
xref: NCIT:C35150 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:5870"}
xref: UMLS:C1527407 {source="NCIT:C35150", source="MONDO:equivalentTo", source="DOID:5870"}
is_a: MONDO:0005249 {source="DOID:5870", source="EFO:0007257"} ! pneumonia
property_value: closeMatch http://identifiers.org/snomedct/196145005
property_value: closeMatch http://identifiers.org/snomedct/91053000
property_value: exactMatch DOID:5870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527407
property_value: exactMatch NCIT:C35150

[Term]
id: MONDO:0005750
name: ephemeral fever
def: "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." [MESH:D004810]
xref: EFO:0007258 {source="MONDO:equivalentTo"}
xref: MESH:D004810 {source="EFO:0007258", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0014481 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007258", source="MESH:D004810/inferred"} ! non-human animal disease
property_value: closeMatch DOID:5215
property_value: exactMatch http://identifiers.org/mesh/D004810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014481

[Term]
id: MONDO:0005751
name: epidemic pleurodynia
def: "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." [MESH:D011000]
synonym: "Bamble disease" EXACT [DOID:10882]
synonym: "Bornholm disease" EXACT [DOID:10882]
synonym: "devil's grip" EXACT [DOID:10882]
synonym: "epidemic myalgia" EXACT [DOID:10882]
synonym: "epidemic pleurisy" EXACT [DOID:10882]
synonym: "epidemic, myositis" EXACT [DOID:10882, MTHICD9_2006:074.1]
xref: COHD:195464 {source="MONDO:equivalentTo"}
xref: DOID:10882 {source="EFO:0007259", source="MONDO:equivalentTo"}
xref: EFO:0007259 {source="MONDO:equivalentTo"}
xref: ICD10:B33.0 {source="MONDO:equivalentTo", source="DOID:10882"}
xref: ICD9:074.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10882"}
xref: MESH:D011000 {source="EFO:0007259", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10882"}
xref: SCTID:83264000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="DOID:10882"}
xref: UMLS:C0032238 {source="MONDO:equivalentTo", source="DOID:10882"}
is_a: MONDO:0005747 ! enterovirus infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154356006
property_value: exactMatch DOID:10882
property_value: exactMatch http://identifiers.org/mesh/D011000
property_value: exactMatch http://identifiers.org/snomedct/83264000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032238

[Term]
id: MONDO:0005752
name: epidural abscess
def: "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" [MESH:D020802]
synonym: "abscess epidural" EXACT [DOID:11387]
xref: DOID:11387 {source="MONDO:equivalentTo", source="EFO:0007260"}
xref: EFO:0007260 {source="MONDO:equivalentTo"}
xref: MESH:D020802 {source="MONDO:equivalentTo", source="EFO:0007260", source="MONDO:ontobio", source="DOID:11387"}
xref: SCTID:61974008 {source="MONDO:equivalentTo", source="DOID:11387", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0270629 {source="MONDO:equivalentTo", source="DOID:11387"}
is_a: MONDO:0006130 {source="EFO:0007260"} ! central nervous system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/192752004
property_value: closeMatch http://identifiers.org/snomedct/310671007
property_value: exactMatch DOID:11387
property_value: exactMatch http://identifiers.org/mesh/D020802
property_value: exactMatch http://identifiers.org/snomedct/61974008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270629

[Term]
id: MONDO:0005753
name: epiglottitis
def: "Inflammation of the epiglottis." [NCIT:P378]
synonym: "acute epiglottitis" EXACT EXCLUDE [DOID:9398]
synonym: "acute epiglottitis and supraglottitis" EXACT [DOID:9398]
synonym: "inflammation of mucosa of epiglottis" EXACT []
synonym: "mucosa of epiglottis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "supraglottitis" EXACT [NCIT:C116007]
xref: COHD:4105773 {source="MONDO:equivalentTo"}
xref: DOID:9398 {source="MONDO:equivalentTo", source="EFO:0007261"}
xref: EFO:0007261 {source="MONDO:equivalentTo"}
xref: ICD10:J05.1 {source="DOID:9398"}
xref: ICD10:J05.10 {source="DOID:9398"}
xref: ICD9:464.3 {source="DOID:9398"}
xref: MESH:D004826 {source="MONDO:equivalentTo", source="EFO:0007261", source="MONDO:ontobio", source="DOID:9398"}
xref: NCIT:C116007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:9398"}
xref: SCTID:80384002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.90", source="DOID:9398"}
xref: UMLS:C0014541 {source="MONDO:equivalentTo", source="NCIT:C116007", source="DOID:9398"}
is_a: MONDO:0004867 {source="DOID:9398", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease
is_a: MONDO:0020579 ! mucositis
is_a: MONDO:0020592 ! disease of pharynx
property_value: closeMatch http://identifiers.org/snomedct/155509002
property_value: closeMatch http://identifiers.org/snomedct/195701009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155814
property_value: exactMatch DOID:9398
property_value: exactMatch http://identifiers.org/mesh/D004826
property_value: exactMatch http://identifiers.org/snomedct/80384002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014541
property_value: exactMatch NCIT:C116007

[Term]
id: MONDO:0005754
name: epilepsy with generalized tonic-clonic seizures
def: "A generalized tonic-clonic seizure." [NCIT:P378]
synonym: "epileptic seizures, tonic-clonic" EXACT [DOID:7725, MTHICD9_2006:345.1]
synonym: "grand Mal epilepsy" EXACT [DOID:7725, NCIT:C3022]
synonym: "tonic-clonic epilepsy" EXACT [DOID:7725]
xref: DOID:7725 {source="MONDO:equivalentTo", source="EFO:0007262"}
xref: EFO:0007262 {source="MONDO:equivalentTo"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004830 {source="MONDO:equivalentTo", source="DOID:7725", source="EFO:0007262", source="MONDO:ontobio"}
xref: NCIT:C3022 {source="MONDO:equivalentTo", source="DOID:7725", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:352818000 {source="MONDO:equivalentTo", source="DOID:7725", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0014549 {source="NCIT:C3022", source="MONDO:equivalentTo", source="DOID:7725"}
is_a: MONDO:0000415 {source="DOID:7725"} ! adolescence-adult electroclinical syndrome
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: exactMatch DOID:7725
property_value: exactMatch http://identifiers.org/mesh/D004830
property_value: exactMatch http://identifiers.org/snomedct/352818000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014549
property_value: exactMatch NCIT:C3022

[Term]
id: MONDO:0005755
name: equine infectious anemia
def: "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." [MESH:D004859]
xref: EFO:0007263 {source="MONDO:equivalentTo"}
xref: MESH:D004859 {source="MONDO:equivalentTo", source="EFO:0007263", source="MONDO:ontobio"}
xref: UMLS:C0014661 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007263", source="MESH:D004859/inferred"} ! viral infectious disease
property_value: closeMatch DOID:5002
property_value: exactMatch http://identifiers.org/mesh/D004859
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014661

[Term]
id: MONDO:0005756
name: ethmoid sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." [NCIT:P378]
synonym: "ethmoid bone sinusitis" EXACT [MONDO:patterns/location]
synonym: "ethmoidal sinusitis" EXACT [DOID:9507, NCIT:C34597]
synonym: "ethmoiditis" EXACT [DOID:9507]
synonym: "sinusitis of ethmoid bone" EXACT [MONDO:design_pattern]
xref: DOID:9507 {source="MONDO:equivalentTo", source="EFO:0007264"}
xref: EFO:0007264 {source="MONDO:equivalentTo"}
xref: ICD10:J32.2 {source="DOID:9507", source="MONDO:superClassOf"}
xref: MESH:D015521 {source="MONDO:equivalentTo", source="DOID:9507", source="MONDO:ontobio", source="EFO:0007264"}
xref: NCIT:C34597 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9507"}
xref: SCTID:18643000 {source="MONDO:equivalentTo", source="DOID:9507", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0015029 {source="MONDO:equivalentTo", source="DOID:9507", source="NCIT:C34597"}
is_a: MONDO:0005961 {source="DOID:9507", source="EFO:0007264", source="MESH:D015521", source="MONDO:Redundant", source="NCIT:C34597", source="linkedlifedata"} ! sinusitis
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:9507
property_value: exactMatch http://identifiers.org/mesh/D015521
property_value: exactMatch http://identifiers.org/snomedct/18643000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015029
property_value: exactMatch NCIT:C34597

[Term]
id: MONDO:0005757
name: eumycotic mycetoma
def: "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." [NCIT:P378]
synonym: "eumycetoma" EXACT [DOID:13078]
synonym: "Madura foot" EXACT [DOID:13078, ICD9CM_2006:039.4]
synonym: "maduromycosis" EXACT [DOID:13078]
synonym: "Maduromycosis, mycotic" EXACT [DOID:13078, MTHICD9_2006:117.4]
synonym: "mycotic mycetoma" EXACT [DOID:13078]
xref: DOID:13078 {source="MONDO:equivalentTo", source="EFO:0007265"}
xref: EFO:0007265 {source="MONDO:equivalentTo"}
xref: ICD10:B47 {source="MONDO:relatedTo", source="DOID:13078"}
xref: ICD10:B47.9 {source="DOID:13078"}
xref: ICD9:117.4 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:410038006 {source="MONDO:kboom-pr-0.74/0.43/0.26", source="MONDO:equivalentTo"}
is_a: MONDO:0002040 {source="DOID:13078"} ! dermatomycosis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: closeMatch http://identifiers.org/snomedct/187497002
property_value: exactMatch DOID:13078
property_value: exactMatch http://identifiers.org/snomedct/410038006

[Term]
id: MONDO:0005758
name: eunuchism
def: "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." [MESH:D005058]
synonym: "hypergonadotropic hypogonadism (Male)" EXACT [NCIT:C131195]
synonym: "Male hypergonadotropic hypogonadism" EXACT [NCIT:C131195]
synonym: "Primary testicular failure" EXACT [NCIT:C131195]
xref: DOID:5003 {source="MONDO:equivalentTo", source="EFO:0007266"}
xref: EFO:0007266 {source="MONDO:equivalentTo"}
xref: ICD9:257.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005058 {source="DOID:5003", source="MONDO:equivalentTo", source="EFO:0007266"}
xref: NCIT:C131195 {source="MONDO:equivalentTo"}
xref: SCTID:267403002 {source="DOID:5003", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0238117 {source="DOID:5003", source="MONDO:equivalentTo"}
is_a: MONDO:0002146 {source="DOID:5003", source="MESH:D005058"} ! hypogonadism
property_value: closeMatch http://identifiers.org/snomedct/190559001
property_value: exactMatch DOID:5003
property_value: exactMatch http://identifiers.org/mesh/D005058
property_value: exactMatch http://identifiers.org/snomedct/267403002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238117
property_value: exactMatch NCIT:C131195

[Term]
id: MONDO:0005759
name: fascioloidiasis
def: "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." [MESH:D005213]
xref: DOID:1217 {source="EFO:0007268", source="MONDO:equivalentTo"}
xref: EFO:0007268 {source="MONDO:equivalentTo"}
xref: MESH:D005213 {source="EFO:0007268", source="MONDO:equivalentTo", source="DOID:1217", source="MONDO:ontobio"}
xref: SCTID:69550000 {source="MONDO:equivalentTo", source="DOID:1217"}
xref: UMLS:C0015655 {source="MONDO:equivalentTo", source="DOID:1217"}
is_a: MONDO:0004664 {source="DOID:1217", source="MESH:D005213/inferred", source="linkedlifedata/inferred"} ! helminthiasis
property_value: exactMatch DOID:1217
property_value: exactMatch http://identifiers.org/mesh/D005213
property_value: exactMatch http://identifiers.org/snomedct/69550000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015655

[Term]
id: MONDO:0005760
name: obsolete fibroepithelial neoplasm
is_obsolete: true
replaced_by: MONDO:0021045

[Term]
id: MONDO:0005761
name: filarial elephantiasis
def: "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." [MESH:D004605]
subset: ordo_disease {source="Orphanet:2035"}
synonym: "Bancroftian elephantiasis" EXACT [DOID:12211]
synonym: "Bancroftian filarial chyluria" EXACT [DOID:12211]
synonym: "Bancroftian filariasis" RELATED [GARD:0003321]
synonym: "elephantiasis" EXACT [GARD:0003321, NCIT:C128360]
synonym: "elephantiasis of eyelid" EXACT [DOID:12211]
synonym: "eyelid elephantiasis" EXACT [MONDO:patterns/location]
synonym: "lymphatic filariasis" EXACT EXCLUDE [DOID:12211]
synonym: "Malayi tropical eosinphilia" RELATED [GARD:0003321]
synonym: "Wuchereria Bancrofti infection" RELATED [] {comment="GARD:0003321"}
synonym: "Wuchereriasis" RELATED [GARD:0003321]
xref: DOID:12211 {source="MONDO:equivalentTo", source="EFO:0007272"}
xref: EFO:0007272 {source="MONDO:equivalentTo"}
xref: GARD:0003321 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B74.0 {source="Orphanet:2035", source="ORDO:2035/btnt", source="DOID:12211"}
xref: ICD10:B74.1 {source="Orphanet:2035", source="ORDO:2035/btnt"}
xref: ICD10:B74.2 {source="Orphanet:2035", source="ORDO:2035/btnt"}
xref: ICD9:374.83 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10016675 {source="ORDO:2035/e", source="Orphanet:2035"}
xref: MESH:D004605 {source="MONDO:equivalentTo", source="EFO:0007272", source="DOID:12211"}
xref: NCIT:C128360 {source="MONDO:equivalentTo"}
xref: Orphanet:2035 {source="MONDO:equivalentTo"}
xref: SCTID:14100003 {source="MONDO:kboom-pr-0.95/0.84/1.17", source="MONDO:equivalentTo"}
xref: SCTID:240820001 {source="MONDO:equivalentTo", source="DOID:12211"}
is_a: MONDO:0001812 ! parasitic eyelid infestation
is_a: MONDO:0005424 {source="DOID:12211", source="MONDO:Entailed", source="MONDO:Redundant"} ! elephantiasis
is_a: MONDO:0016075 {source="DOID:12211", source="MESH:D004605", source="NCIT:C128360", source="Orphanet:2035", source="linkedlifedata"} ! filariasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0005424 {source="Wikidata"} ! elephantiasis
property_value: closeMatch http://identifiers.org/snomedct/240825006
property_value: closeMatch http://identifiers.org/snomedct/91586009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013884
property_value: exactMatch DOID:12211
property_value: exactMatch http://identifiers.org/meddra/10016675
property_value: exactMatch http://identifiers.org/mesh/D004605
property_value: exactMatch http://identifiers.org/snomedct/14100003
property_value: exactMatch http://identifiers.org/snomedct/240820001
property_value: exactMatch NCIT:C128360
property_value: exactMatch Orphanet:2035

[Term]
id: MONDO:0005762
name: Filoviridae infectious disease
def: "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." [MESH:D018702]
synonym: "Filoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Filoviridae disease or disorder" EXACT []
xref: EFO:0007273 {source="MONDO:equivalentTo"}
xref: MESH:D018702 {source="MONDO:equivalentTo", source="EFO:0007273"}
xref: UMLS:C0242917 {source="MONDO:equivalentTo"}
is_a: MONDO:0005856 ! Mononegavirales infectious disease
property_value: closeMatch DOID:4326
property_value: exactMatch http://identifiers.org/mesh/D018702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242917

[Term]
id: MONDO:0005763
name: Flaviviridae infectious disease
def: "Infections with viruses of the family flaviviridae." [MESH:D018178]
synonym: "Flaviviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Flaviviridae disease or disorder" EXACT []
xref: EFO:0007274 {source="MONDO:equivalentTo"}
xref: MESH:D018178 {source="MONDO:equivalentTo", source="EFO:0007274"}
xref: SCTID:111865007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007274", source="MESH:D018178/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease
property_value: closeMatch DOID:1886
property_value: exactMatch http://identifiers.org/mesh/D018178
property_value: exactMatch http://identifiers.org/snomedct/111865007

[Term]
id: MONDO:0005764
name: follicular dendritic cell sarcoma
def: "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." [NCIT:C9281]
subset: ordo_disease {source="Orphanet:86902"}
synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281]
synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location]
synonym: "follicular Dendritic cell sarcoma/tumor" EXACT [NCIT:C9281]
synonym: "follicular dendritic cell tumour" EXACT [DOID:6262]
synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"}
xref: EFO:0007276 {source="MONDO:equivalentTo"}
xref: ICD10:C96.4 {source="ORDO:86902/ntbt", source="Orphanet:86902", source="DOID:6262"}
xref: ICDO:9758/1 {source="NCIT:C9281"}
xref: ICDO:9758/3 {source="NCIT:C9281"}
xref: MESH:D054740 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276"}
xref: NCIT:C9281 {source="MONDO:equivalentTo", source="DOID:6262"}
xref: ONCOTREE:FDCS {source="MONDO:equivalentTo"}
xref: Orphanet:86902 {source="MONDO:equivalentTo"}
xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="NCIT:C9281"}
is_a: MONDO:0004380 {source="DOID:6262", source="MONDO:Redundant", source="MONDOLEX:0005764"} ! dendritic cell sarcoma
is_a: MONDO:0017345 {source="Orphanet:86902"} ! Epstein-Barr virus-associated mesenchymal tumor
is_a: MONDO:0020082 {source="Orphanet:86902"} ! dendritic cell tumor
property_value: closeMatch http://identifiers.org/snomedct/128816008
property_value: exactMatch DOID:6262
property_value: exactMatch http://identifiers.org/mesh/D054740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260325
property_value: exactMatch NCIT:C9281
property_value: exactMatch Orphanet:86902

[Term]
id: MONDO:0005765
name: foot and mouth disease
def: "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." [EFO:0007277]
xref: EFO:0007277 {source="MONDO:equivalentTo"}
xref: MESH:D005536 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007277"}
xref: UMLS:C0016514 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007277", source="MESH:D005536"} ! non-human animal disease
property_value: closeMatch DOID:11261
property_value: exactMatch http://identifiers.org/mesh/D005536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016514

[Term]
id: MONDO:0005766
name: fungal lung infectious disease
def: "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." [MESH:D008172]
synonym: "fungal disease, pulmonary" RELATED [MESH:D008172]
synonym: "fungal diseases, pulmonary" RELATED [MESH:D008172]
synonym: "fungal infection, pulmonary" RELATED [MESH:D008172]
synonym: "fungal infections, pulmonary" RELATED [MESH:D008172]
synonym: "fungal lung disease" RELATED [MESH:D008172]
synonym: "fungal lung diseases" RELATED [MESH:D008172]
synonym: "Fungi caused lung disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi lung disease" EXACT []
synonym: "lung disease, fungal" RELATED [MESH:D008172]
synonym: "pulmonary fungal disease" RELATED [MESH:D008172]
synonym: "pulmonary fungal diseases" RELATED [MESH:D008172]
synonym: "pulmonary fungal infection" RELATED [MESH:D008172]
synonym: "pulmonary fungal infections" RELATED [MESH:D008172]
xref: EFO:0007278 {source="MONDO:equivalentTo"}
xref: MESH:D008172 {source="MONDO:equivalentTo", source="EFO:0007278"}
xref: UMLS:C0024116 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="MESH:D008172", source="MONDO:Redundant", source="MONDOLEX:0005766"} ! fungal infectious disease
is_a: MONDO:0005275 {source="EFO:0007278", source="MESH:D008172", source="MONDO:Redundant"} ! lung disease
is_a: MONDO:0024355 {source="MESH:D008172", source="MONDO:Redundant"} ! respiratory tract infectious disease
property_value: closeMatch DOID:11341
property_value: exactMatch http://identifiers.org/mesh/D008172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024116

[Term]
id: MONDO:0005767
name: gas gangrene
def: "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." [MESH:D005738]
synonym: "gas bacillus infection" EXACT [DOID:9159]
synonym: "gas gangrene" EXACT [DOID:9159]
synonym: "myonecrosis" EXACT [DOID:9159]
xref: COHD:433696 {source="MONDO:equivalentTo"}
xref: DOID:9159 {source="EFO:0007279", source="MONDO:equivalentTo"}
xref: EFO:0007279 {source="MONDO:equivalentTo"}
xref: ICD10:A48.0 {source="MONDO:equivalentTo", source="DOID:9159"}
xref: ICD9:040.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9159"}
xref: MESH:D005738 {source="EFO:0007279", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9159"}
xref: SCTID:80466000 {source="MONDO:equivalentTo", source="DOID:9159", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017105 {source="MONDO:equivalentTo", source="DOID:9159"}
is_a: MONDO:0000315 {source="DOID:9159"} ! commensal bacterial infectious disease
is_a: MONDO:0005229 ! bacterial infectious disease with sepsis
is_a: MONDO:0006617 ! vesiculobullous skin disease
is_a: MONDO:0023149 ! infection due to clostridium perfringens
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/snomedct/186407003
property_value: closeMatch http://identifiers.org/snomedct/186413007
property_value: closeMatch http://identifiers.org/snomedct/276198000
property_value: exactMatch DOID:9159
property_value: exactMatch http://identifiers.org/mesh/D005738
property_value: exactMatch http://identifiers.org/snomedct/80466000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017105

[Term]
id: MONDO:0005768
name: gastrointestinal tuberculosis
def: "tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." [MESH:D014385]
synonym: "tuberculosis of gastrointestinal tract" EXACT [DOID:404]
synonym: "tuberculosis of intestines, peritoneum and mesenteric glands" EXACT [DOID:404]
synonym: "tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [DOID:404, ICD9CM_2006:014]
xref: COHD:196019 {source="MONDO:equivalentTo"}
xref: DOID:404 {source="MONDO:equivalentTo", source="EFO:0007280"}
xref: EFO:0007280 {source="MONDO:equivalentTo"}
xref: ICD9:014.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:014.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:014.86 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014385 {source="DOID:404", source="MONDO:equivalentTo", source="EFO:0007280", source="MONDO:ontobio"}
xref: SCTID:186225008 {source="MONDO:kboom-pr-0.89/0.77/0.24", source="MONDO:equivalentTo"}
xref: UMLS:C0041312 {source="DOID:404", source="MONDO:equivalentTo"}
xref: UMLS:C0152717 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0018076 ! tuberculosis
is_a: MONDO:0043424 ! digestive system infectious disease
relationship: excluded_subClassOf MONDO:0000369 {source="DOID:404"} ! abdominal tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/154286002
property_value: closeMatch http://identifiers.org/snomedct/186228005
property_value: closeMatch http://identifiers.org/snomedct/240376003
property_value: exactMatch DOID:404
property_value: exactMatch http://identifiers.org/mesh/D014385
property_value: exactMatch http://identifiers.org/snomedct/186225008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152717

[Term]
id: MONDO:0005769
name: geniculate herpes zoster
def: "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." [NCIT:C84763]
synonym: "geniculate neuralgia" EXACT [DOID:9210]
synonym: "Herpes zoster auricularis" EXACT [DOID:9210]
synonym: "Herpes Zoster Oticus" EXACT [DOID:9210, MTH:NOCODE, NCIT:C84763]
synonym: "herpetic geniculate ganglionitis" EXACT [DOID:9210, MTHICD9_2006:053.11]
synonym: "nervus intermedius neuralgia" EXACT [DOID:9210]
synonym: "Ramsay Hunt syndrome type 2" EXACT [DOID:9210]
synonym: "Ramsay Hunt syndrome type II" EXACT [DOID:9210]
synonym: "Ramsey Hunt syndrome" EXACT [DOID:9210]
xref: DOID:9210 {source="EFO:0007281", source="MONDO:equivalentTo"}
xref: EFO:0007281 {source="MONDO:equivalentTo"}
xref: ICD10:B02.21 {source="DOID:9210"}
xref: ICD9:053.11 {source="DOID:9210"}
xref: ICD9:351.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C84763 {source="MONDO:equivalentTo", source="DOID:9210", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:95670000 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0017409 {source="MONDO:equivalentTo", source="DOID:9210", source="MEDGEN:kboom-pr95-c98", source="NCIT:C84763"}
xref: UMLS:C0458220 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005609 {source="EFO:0007281"} ! herpes zoster
is_a: MONDO:0021666 {source="NCIT:C84763"} ! ear infection
property_value: closeMatch http://identifiers.org/mesh/D016697
property_value: closeMatch http://identifiers.org/snomedct/154330004
property_value: closeMatch http://identifiers.org/snomedct/186518000
property_value: closeMatch http://identifiers.org/snomedct/186529001
property_value: closeMatch http://identifiers.org/snomedct/21954000
property_value: exactMatch DOID:9210
property_value: exactMatch http://identifiers.org/snomedct/95670000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0458220
property_value: exactMatch NCIT:C84763

[Term]
id: MONDO:0005770
name: genital herpes
def: "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." [NCIT:P378]
synonym: "genital herpes simplex" EXACT [DOID:8704]
synonym: "HERPES genitalia" EXACT [DOID:8704, MTH:363]
synonym: "Herpes Genitalis" EXACT [DOID:8704, MTH:328]
synonym: "venereal herpes" EXACT [CSP2005:3099-9627, DOID:8704]
synonym: "Virus-genital Herpes" EXACT [DOID:8704, NCIT:C14364]
xref: DOID:8704 {source="MONDO:equivalentTo", source="EFO:0007282"}
xref: EFO:0007282 {source="MONDO:equivalentTo"}
xref: ICD9:054.1 {source="DOID:8704"}
xref: ICD9:054.10 {source="MONDO:equivalentTo", source="DOID:8704", source="i2s"}
xref: ICD9:054.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006558 {source="MONDO:equivalentTo", source="DOID:8704", source="EFO:0007282", source="MONDO:ontobio"}
xref: NCIT:C14364 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8704"}
xref: SCTID:33839006 {source="MONDO:equivalentTo", source="DOID:8704", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019342 {source="NCIT:C14364", source="MONDO:equivalentTo", source="DOID:8704"}
is_a: MONDO:0003150 {source="MESH:D006558", source="MESH:D006558/inferred"} ! male reproductive system disease
is_a: MONDO:0004609 {source="DOID:8704", source="MESH:D006558", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! herpes simplex infectious disease
is_a: MONDO:0021682 {source="MESH:D006558"} ! viral sexually transmitted disease
property_value: closeMatch http://identifiers.org/snomedct/154333002
property_value: closeMatch http://identifiers.org/snomedct/186536000
property_value: closeMatch http://identifiers.org/snomedct/186539007
property_value: closeMatch http://identifiers.org/snomedct/271463009
property_value: exactMatch DOID:8704
property_value: exactMatch http://identifiers.org/mesh/D006558
property_value: exactMatch http://identifiers.org/snomedct/33839006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019342
property_value: exactMatch NCIT:C14364

[Term]
id: MONDO:0005771
name: geographic tongue
def: "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." [NCIT:P378]
synonym: "benign migratory glossitis" EXACT [DOID:1455]
synonym: "glossitis areata exfoliativa" EXACT [DOID:1455, MTHICD9_2006:529.1]
synonym: "Pityriasis linguae" EXACT [DOID:1455]
xref: COHD:441333 {source="MONDO:equivalentTo"}
xref: DOID:1455 {source="MONDO:equivalentTo", source="EFO:0007283"}
xref: EFO:0007283 {source="MONDO:equivalentTo"}
xref: ICD10:K14.1 {source="MONDO:equivalentTo", source="DOID:1455"}
xref: ICD9:529.1 {source="MONDO:equivalentTo", source="DOID:1455", source="i2s"}
xref: NCIT:C84588 {source="MONDO:equivalentTo", source="DOID:1455"}
xref: SCTID:59032001 {source="MONDO:equivalentTo", source="DOID:1455", source="MONDO:kboom-pr-0.78/0.43/0.61"}
xref: UMLS:C0017677 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:1455"}
is_a: MONDO:0001989 {source="DOID:1455", source="linkedlifedata"} ! atrophic glossitis
property_value: closeMatch http://identifiers.org/mesh/D005929
property_value: closeMatch http://identifiers.org/snomedct/155667007
property_value: closeMatch http://identifiers.org/snomedct/266496009
property_value: exactMatch DOID:1455
property_value: exactMatch http://identifiers.org/snomedct/59032001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017677
property_value: exactMatch NCIT:C84588

[Term]
id: MONDO:0005772
name: geotrichosis
def: "Infection due to the fungus Geotrichum." [MESH:D005847]
xref: DOID:2832 {source="MONDO:equivalentTo", source="EFO:0007284"}
xref: EFO:0007284 {source="MONDO:equivalentTo"}
xref: ICD10:B48.3 {source="MONDO:equivalentTo", source="DOID:2832"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005847 {source="MONDO:equivalentTo", source="DOID:2832", source="EFO:0007284", source="MONDO:ontobio"}
xref: SCTID:13969006 {source="MONDO:equivalentTo", source="DOID:2832", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017455 {source="MONDO:equivalentTo", source="DOID:2832"}
is_a: MONDO:0002312 {source="DOID:2832"} ! opportunistic mycosis
relationship: excluded_subClassOf MONDO:0005046 {source="EFO:0007284"} ! immune system disease
property_value: closeMatch http://identifiers.org/snomedct/187105008
property_value: exactMatch DOID:2832
property_value: exactMatch http://identifiers.org/mesh/D005847
property_value: exactMatch http://identifiers.org/snomedct/13969006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017455

[Term]
id: MONDO:0005773
name: Gerstmann syndrome
def: "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." [Orphanet:221117]
subset: gard_rare {source="GARD:0008660"}
subset: ordo_disease {source="Orphanet:221117"}
synonym: "aphasia-angular gyrus syndrome" EXACT [DOID:4969]
synonym: "developmental Gerstmann syndrome" RELATED [GARD:0008660]
synonym: "Gerstmann Badal syndrome" RELATED [GARD:0008660]
synonym: "Gerstmann tetrad" RELATED [GARD:0008660]
synonym: "GS" RELATED [GARD:0008660]
xref: DOID:4969 {source="MONDO:equivalentTo", source="EFO:0007285"}
xref: EFO:0007285 {source="MONDO:equivalentTo"}
xref: GARD:0008660 {source="MONDO:equivalentTo"}
xref: ICD10:F81.2 {source="ORDO:221117/ntbt", source="Orphanet:221117"}
xref: ICD9:784.69 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048608 {source="ORDO:221117/e", source="Orphanet:221117", source="DOID:4969"}
xref: MESH:D005862 {source="MONDO:equivalentTo", source="ORDO:221117/e", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285", source="MONDO:ontobio"}
xref: Orphanet:221117 {source="MONDO:equivalentTo", source="DOID:4969"}
xref: SCTID:36785009 {source="MONDO:equivalentTo", source="DOID:4969", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005071 {source="Orphanet:221117"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch DOID:4969
property_value: exactMatch http://identifiers.org/meddra/10048608
property_value: exactMatch http://identifiers.org/mesh/D005862
property_value: exactMatch http://identifiers.org/snomedct/36785009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017494
property_value: exactMatch Orphanet:221117
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome xsd:anyURI {source="GARD:0008660"}

[Term]
id: MONDO:0005774
name: glanders
def: "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." [NCIT:P378]
subset: gard_rare {source="GARD:0009536"}
synonym: "Burkholderia mallei" RELATED [GARD:0009536]
synonym: "Burkholderia mallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia mallei disease or disorder" EXACT []
synonym: "Burkholderia mallei infection" RELATED [GARD:0009536]
synonym: "Burkholderia mallei infectious disease" EXACT []
synonym: "farcy pipes" EXACT [DOID:13444]
synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444, MTHICD9_2006:024]
xref: COHD:437492 {source="MONDO:equivalentTo"}
xref: DOID:13444 {source="MONDO:equivalentTo", source="EFO:0007286"}
xref: EFO:0007286 {source="MONDO:equivalentTo"}
xref: GARD:0009536 {source="MONDO:equivalentTo"}
xref: ICD10:A24.0 {source="MONDO:equivalentTo", source="DOID:13444"}
xref: ICD9:024 {source="MONDO:equivalentTo", source="i2s", source="DOID:13444"}
xref: MESH:D005896 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13444", source="EFO:0007286"}
xref: NCIT:C34638 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13444"}
xref: SCTID:4639008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46", source="DOID:13444"}
xref: UMLS:C0017589 {source="NCIT:C34638", source="MONDO:equivalentTo", source="DOID:13444"}
is_a: MONDO:0000314 {source="DOID:13444"} ! primary bacterial infectious disease
is_a: MONDO:0043953 ! burkholderia infectious disease
property_value: closeMatch http://identifiers.org/snomedct/35322000
property_value: exactMatch DOID:13444
property_value: exactMatch http://identifiers.org/mesh/D005896
property_value: exactMatch http://identifiers.org/snomedct/4639008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017589
property_value: exactMatch NCIT:C34638
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9536/glanders xsd:anyURI {source="GARD:0009536"}

[Term]
id: MONDO:0005775
name: G6PD deficiency
def: "An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs." [NCIT:P378]
synonym: "deficiency of G-6PD" EXACT [DOID:2862]
synonym: "G-6-PD variant enzyme deficiency Anemia" EXACT [NCIT:C98933]
synonym: "G6PD" EXACT [NCIT:C98933]
synonym: "G6PD deficiency" EXACT [NCIT:C98933]
synonym: "glucose-6-phosphate dehydrogenase deficiency" EXACT [DOID:2862]
synonym: "glucosephosphate dehydrogenase deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/1117]
synonym: "inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glucose-6-phosphate dehydrogenase activity disorder" EXACT []
synonym: "rare inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glucose-6-phosphate dehydrogenase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:2862 {source="MONDO:equivalentTo", source="EFO:0007287"}
xref: EFO:0007287 {source="MONDO:equivalentTo"}
xref: MESH:D005955 {source="DOID:2862", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007287"}
xref: NCIT:C98933 {source="DOID:2862", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:62403005 {source="DOID:2862", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.48/0.17"}
xref: UMLS:C2939465 {source="NCIT:C98933", source="DOID:2862", source="MONDO:equivalentTo"}
is_a: MONDO:0019214 {source="DOID:2862", source="EFO:0007287", source="MESH:D005955"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124134002
property_value: closeMatch http://identifiers.org/snomedct/154738008
property_value: closeMatch http://identifiers.org/snomedct/267498002
property_value: exactMatch DOID:2862
property_value: exactMatch http://identifiers.org/mesh/D005955
property_value: exactMatch http://identifiers.org/snomedct/62403005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939465
property_value: exactMatch NCIT:C98933

[Term]
id: MONDO:0005776
name: gnathomiasis
def: "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." [NCIT:C128395]
synonym: "Gnathostoma infection" RELATED [GARD:0009286]
synonym: "Gnathostomiasis" EXACT [DOID:11379, ICD9CM_2006:128.1]
synonym: "infectious disease by Gnathostoma" EXACT [DOID:11379]
xref: DOID:11379 {source="MONDO:equivalentTo", source="EFO:0007289"}
xref: EFO:0007289 {source="MONDO:equivalentTo"}
xref: GARD:0009286 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:B83.1 {source="DOID:11379", source="MONDO:equivalentTo"}
xref: ICD9:128.1 {source="DOID:11379", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D058429 {source="DOID:11379", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007289"}
xref: NCIT:C128395 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:44086001 {source="DOID:11379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"}
xref: UMLS:C0018013 {source="DOID:11379", source="NCIT:C128395", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:11379", source="ICD10:B83.1/inferred", source="MESH:D058429/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: exactMatch DOID:11379
property_value: exactMatch http://identifiers.org/mesh/D058429
property_value: exactMatch http://identifiers.org/snomedct/44086001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018013
property_value: exactMatch NCIT:C128395

[Term]
id: MONDO:0005777
name: granuloma inguinale
def: "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." [NCIT:P378]
subset: gard_rare {source="GARD:0009532"}
synonym: "donovanosis" EXACT [DOID:9113]
synonym: "granuloma inguinale" EXACT [CSP2005:0368-2705, DOID:9113, NCIT:C3065]
synonym: "pudendal ulcer" EXACT [DOID:9113, MTHICD9_2006:099.2]
xref: COHD:199726 {source="MONDO:equivalentTo"}
xref: DOID:9113 {source="MONDO:equivalentTo", source="EFO:0007291"}
xref: EFO:0007291 {source="MONDO:equivalentTo"}
xref: GARD:0009532 {source="MONDO:equivalentTo"}
xref: ICD10:A58 {source="MONDO:equivalentTo", source="DOID:9113"}
xref: ICD9:099.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9113"}
xref: MESH:D006100 {source="MONDO:equivalentTo", source="EFO:0007291", source="MONDO:ontobio", source="DOID:9113"}
xref: NCIT:C3065 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9113"}
xref: SCTID:28867007 {source="MONDO:equivalentTo", source="DOID:9113", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018190 {source="NCIT:C3065", source="MONDO:equivalentTo", source="DOID:9113"}
is_a: MONDO:0000314 {source="DOID:9113"} ! primary bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D006100"} ! bacterial sexually transmitted disease
is_a: MONDO:0030603 ! Klebsiella infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186947000
property_value: exactMatch DOID:9113
property_value: exactMatch http://identifiers.org/mesh/D006100
property_value: exactMatch http://identifiers.org/snomedct/28867007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018190
property_value: exactMatch NCIT:C3065
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale xsd:anyURI {source="GARD:0009532"}

[Term]
id: MONDO:0005778
name: haemonchiasis
def: "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." [MESH:D006188]
xref: DOID:3332 {source="MONDO:equivalentTo", source="EFO:0007293"}
xref: EFO:0007293 {source="MONDO:equivalentTo"}
xref: MESH:D006188 {source="DOID:3332", source="MONDO:equivalentTo", source="EFO:0007293", source="MONDO:ontobio"}
xref: UMLS:C0018477 {source="DOID:3332", source="MONDO:equivalentTo"}
is_a: MONDO:0005994 {source="DOID:3332", source="MESH:D006188"} ! trichostrongyloidiasis
property_value: exactMatch DOID:3332
property_value: exactMatch http://identifiers.org/mesh/D006188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018477

[Term]
id: MONDO:0005779
name: hand, foot and mouth disease
def: "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks." [NCIT:C128439]
synonym: "hand foot and mouth disease" EXACT [NCIT:C128439]
synonym: "hand, foot, and mouth disease" EXACT [NCIT:C128439]
synonym: "HFMD" EXACT [NCIT:C128439]
synonym: "vesicular stomatitis and exanthem" EXACT [DOID:10881, MTHICD9_2006:074.3]
xref: DOID:10881 {source="MONDO:equivalentTo", source="EFO:0007294"}
xref: EFO:0007294 {source="MONDO:equivalentTo"}
xref: ICD10:B08.4 {source="DOID:10881"}
xref: ICD9:074.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10881"}
xref: MESH:D006232 {source="MONDO:equivalentTo", source="EFO:0007294", source="MONDO:ontobio", source="DOID:10881"}
xref: NCIT:C128439 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
xref: SCTID:266108008 {source="MONDO:equivalentTo", source="DOID:10881", source="MONDO:kboom-pr-1.00/0.80/9.25"}
xref: UMLS:C0018572 {source="MONDO:equivalentTo", source="NCIT:C128439", source="DOID:10881"}
is_a: MONDO:0005747 ! enterovirus infectious disease
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: closeMatch http://identifiers.org/snomedct/154357002
property_value: closeMatch http://identifiers.org/snomedct/175497008
property_value: closeMatch http://identifiers.org/snomedct/186664000
property_value: closeMatch http://identifiers.org/snomedct/67171006
property_value: exactMatch DOID:10881
property_value: exactMatch http://identifiers.org/mesh/D006232
property_value: exactMatch http://identifiers.org/snomedct/266108008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018572
property_value: exactMatch NCIT:C128439

[Term]
id: MONDO:0005780
name: hantavirus infectious disease
alt_id: MONDO:0042492
def: "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." [NCIT:C3899]
synonym: "disease caused by hantavirus" RELATED []
synonym: "disease due to hantavirus" EXACT []
synonym: "Hantavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hantavirus disease or disorder" EXACT []
synonym: "Hantavirus infection" EXACT [MESH:D018778, NCIT:C3899]
synonym: "Hantavirus infectious disease" EXACT []
synonym: "infections, Hantavirus" RELATED [MESH:D018778]
xref: EFO:0007295 {source="MONDO:equivalentTo"}
xref: ICD9:079.81 {source="linkedlifedata"}
xref: MESH:D018778 {source="MONDO:equivalentTo", source="EFO:0007295"}
xref: NCIT:C3899 {source="MONDO:equivalentTo"}
xref: SCTID:359761005 {source="MONDO:equivalentTo"}
xref: UMLS:C0242994 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3899"}
is_a: MONDO:0021641 {source="MESH:D018778", source="MONDO:Redundant", source="linkedlifedata"} ! Bunyaviridae infectious disease
property_value: closeMatch DOID:2880
property_value: exactMatch http://identifiers.org/mesh/D018778
property_value: exactMatch http://identifiers.org/snomedct/359761005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242994
property_value: exactMatch NCIT:C3899

[Term]
id: MONDO:0005781
name: obsolete hantavirus pulmonary syndrome
is_obsolete: true
replaced_by: MONDO:0017879

[Term]
id: MONDO:0005782
name: obsolete HELLP syndrome
is_obsolete: true
replaced_by: MONDO:0008585

[Term]
id: MONDO:0005783
name: hemopericardium (disease)
def: "An accumulation of blood within the pericardial sac." [NCIT:P378]
synonym: "haemopericardium" EXACT [DOID:11482]
synonym: "hemopericardium" EXACT [MONDO:ambiguous]
xref: COHD:258449 {source="MONDO:equivalentTo"}
xref: DOID:11482 {source="MONDO:equivalentTo", source="EFO:0007298"}
xref: EFO:0007298 {source="MONDO:equivalentTo"}
xref: HP:0011851 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:423.0 {source="MONDO:equivalentTo", source="DOID:11482", source="i2s"}
xref: SCTID:23412002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11482"}
xref: UMLS:C0019064 {source="MONDO:equivalentTo", source="DOID:11482"}
is_a: MONDO:0001370 {source="DOID:11482"} ! pericardial effusion (disease)
property_value: closeMatch http://identifiers.org/mesh/D010490
property_value: closeMatch http://identifiers.org/snomedct/155339006
property_value: exactMatch DOID:11482
property_value: exactMatch http://identifiers.org/snomedct/23412002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019064
property_value: exactMatch NCIT:C111644

[Term]
id: MONDO:0005784
name: hantavirus hemorrhagic fever with renal syndrome
def: "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." [NCIT:P378]
synonym: "hemorrhagic fever with renal syndrome" RELATED [DOID:11266]
synonym: "hemorrhagic fever, Russian" NARROW [DOID:11266, MTHICD9_2006:078.6]
synonym: "hemorrhagic nephrosonephritis" EXACT [DOID:11266, ICD9CM_2006:078.6]
synonym: "HFRS" EXACT [DOID:11266, https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome]
synonym: "Puumala virus nephropathy" NARROW [DOID:11266]
xref: DOID:11266 {source="MONDO:equivalentTo", source="EFO:0007299"}
xref: EFO:0007299 {source="MONDO:equivalentTo"}
xref: ICD10:A98.5 {source="MONDO:equivalentTo", source="DOID:11266"}
xref: ICD9:078.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:11266"}
xref: NCIT:C84753 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11266"}
xref: SCTID:102455002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.09", source="DOID:11266"}
is_a: MONDO:0005240 ! kidney disease
is_a: MONDO:0005780 ! hantavirus infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186701001
property_value: closeMatch http://identifiers.org/snomedct/70826003
property_value: exactMatch DOID:11266
property_value: exactMatch http://identifiers.org/snomedct/102455002
property_value: exactMatch NCIT:C84753

[Term]
id: MONDO:0005785
name: henipavirus infectious disease
def: "Infections with viruses of the genus henipavirus, family paramyxoviridae." [MESH:D045464]
synonym: "Henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Henipavirus disease or disorder" EXACT []
synonym: "Henipavirus infectious disease" EXACT []
xref: EFO:0007300 {source="MONDO:equivalentTo"}
xref: MESH:D045464 {source="MONDO:equivalentTo", source="EFO:0007300"}
is_a: MONDO:0005896 ! Paramyxoviridae infectious disease
property_value: closeMatch DOID:4393
property_value: exactMatch http://identifiers.org/mesh/D045464

[Term]
id: MONDO:0005786
name: Hepadnaviridae infectious disease
def: "Virus diseases caused by the hepadnaviridae." [MESH:D018347]
synonym: "Hepadnaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepadnaviridae disease or disorder" EXACT []
xref: EFO:0007301 {source="MONDO:equivalentTo"}
xref: MESH:D018347 {source="EFO:0007301", source="MONDO:equivalentTo"}
xref: UMLS:C0206746 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007301", source="MESH:D018347/inferred", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:5497
property_value: exactMatch http://identifiers.org/mesh/D018347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206746

[Term]
id: MONDO:0005787
name: hepatic tuberculosis
def: "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." [MESH:D014386]
synonym: "tuberculosis of liver" EXACT [DOID:407]
xref: DOID:407 {source="EFO:0007302", source="MONDO:equivalentTo"}
xref: EFO:0007302 {source="MONDO:equivalentTo"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014386 {source="EFO:0007302", source="MONDO:equivalentTo", source="DOID:407", source="MONDO:ontobio"}
xref: SCTID:186273003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.80", source="DOID:407"}
xref: UMLS:C0041313 {source="MONDO:equivalentTo", source="DOID:407"}
is_a: MONDO:0000369 ! abdominal tuberculosis
is_a: MONDO:0002251 ! hepatitis
is_a: MONDO:0005768 {source="DOID:407", source="EFO:0007302"} ! gastrointestinal tuberculosis
is_a: MONDO:0006743 ! endocrine tuberculosis
property_value: exactMatch DOID:407
property_value: exactMatch http://identifiers.org/mesh/D014386
property_value: exactMatch http://identifiers.org/snomedct/186273003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041313

[Term]
id: MONDO:0005788
name: hepatitis E virus infection
def: "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." [MESH:D016751]
subset: gard_rare {source="GARD:0009541"}
synonym: "Hepatitis E virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis E virus hepatitis" EXACT []
synonym: "hepatitis type E" EXACT [DOID:4411, EFO:0007303, MONDORULE:1]
xref: DOID:4411 {source="EFO:0007303", source="MONDO:equivalentTo"}
xref: EFO:0007303 {source="MONDO:equivalentTo"}
xref: GARD:0009541 {source="MONDO:equivalentTo"}
xref: MESH:D016751 {source="DOID:4411", source="EFO:0007303", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:7111000119109 {source="DOID:4411", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0085293 {source="DOID:4411", source="MONDO:equivalentTo"}
is_a: MONDO:0006011 {source="EFO:0007303", source="MESH:D016751", source="MONDO:Redundant", source="linkedlifedata"} ! viral hepatitis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:4411", source="MONDO:Redundant"} ! skin disease
property_value: exactMatch DOID:4411
property_value: exactMatch http://identifiers.org/mesh/D016751
property_value: exactMatch http://identifiers.org/snomedct/7111000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085293
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e xsd:anyURI {source="GARD:0009541"}

[Term]
id: MONDO:0005789
name: hepatitis D virus infection
def: "inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D003699]
subset: ordo_disease {source="Orphanet:402823"}
synonym: "delta hepatitis" EXACT [CSP2005:1754-6994, DOID:2047]
synonym: "HDV" EXACT [Orphanet:402823]
synonym: "Hepatitis D virus" EXACT [Orphanet:402823]
synonym: "hepatitis delta" EXACT [MONDO:0018441]
synonym: "Hepatitis delta virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis delta virus hepatitis" EXACT []
synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1]
xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"}
xref: EFO:0007304 {source="MONDO:equivalentTo"}
xref: ICD10:B17.0 {source="Orphanet:402823", source="ORDO:402823/e"}
xref: ICD9:070.52 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003699 {source="EFO:0007304", source="DOID:2047", source="MONDO:equivalentTo"}
xref: Orphanet:402823 {source="MONDO:equivalentTo"}
xref: SCTID:707341005 {source="DOID:2047", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
is_a: MONDO:0005344 ! hepatitis B virus infection
is_a: MONDO:0021674 ! post-viral disorder
relationship: disease_arises_from_feature MONDO:0005344 ! hepatitis B virus infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576", source="MONDO:0018928"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/424460009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011226
property_value: exactMatch DOID:2047
property_value: exactMatch http://identifiers.org/mesh/D003699
property_value: exactMatch http://identifiers.org/snomedct/707341005
property_value: exactMatch Orphanet:402823

[Term]
id: MONDO:0005790
name: hepatitis A virus infection
def: "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." [NCIT:P378]
synonym: "Hepatitis A" EXACT [NCIT:C3096]
synonym: "Hepatitis A infection" EXACT [NCIT:C3096]
synonym: "hepatitis type A" EXACT [DOID:12549, EFO:0007305, MONDORULE:1]
synonym: "viral hepatitis A" RELATED [DOID:12549]
synonym: "viral hepatitis, type A" EXACT [DOID:12549]
xref: DOID:12549 {source="EFO:0007305", source="MONDO:equivalentTo"}
xref: EFO:0007305 {source="MONDO:equivalentTo"}
xref: MESH:D006506 {source="DOID:12549", source="EFO:0007305", source="MONDO:equivalentTo"}
xref: NCIT:C3096 {source="MONDO:kboom-pr-0.82/0.63/0.16", source="DOID:12549", source="MONDO:equivalentTo"}
xref: SCTID:40468003 {source="DOID:12549", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.63/0.24"}
xref: UMLS:C0019159 {source="NCIT:C3096", source="DOID:12549", source="MONDO:equivalentTo"}
is_a: MONDO:0005914 ! Picornaviridae infectious disease
is_a: MONDO:0006011 {source="EFO:0007305", source="MESH:D006506", source="MONDO:Redundant", source="MONDOLEX:0005790", source="NCIT:C3096", source="linkedlifedata"} ! viral hepatitis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:12549", source="MONDO:Redundant"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/154347003
property_value: exactMatch DOID:12549
property_value: exactMatch http://identifiers.org/mesh/D006506
property_value: exactMatch http://identifiers.org/snomedct/40468003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019159
property_value: exactMatch NCIT:C3096

[Term]
id: MONDO:0005791
name: herpangina
def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [DOID:10883, http://emedicine.medscape.com/article/218502-overview, http://en.wikipedia.org/wiki/Herpangina, http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm]
synonym: "vesicular pharyngitis" EXACT [DOID:10883, MTHICD9_2006:074.0]
xref: COHD:132553 {source="MONDO:equivalentTo"}
xref: DOID:10883 {source="EFO:0007306", source="MONDO:equivalentTo"}
xref: EFO:0007306 {source="MONDO:equivalentTo"}
xref: ICD10:B08.5 {source="DOID:10883"}
xref: ICD9:074.0 {source="DOID:10883"}
xref: MESH:D006557 {source="EFO:0007306", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10883"}
xref: SCTID:274102007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20", source="DOID:10883"}
xref: UMLS:C0019338 {source="MONDO:equivalentTo", source="DOID:10883"}
is_a: MONDO:0005721 ! coxsackievirus infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154358007
property_value: closeMatch http://identifiers.org/snomedct/186659004
property_value: closeMatch http://identifiers.org/snomedct/266197009
property_value: closeMatch http://identifiers.org/snomedct/37428001
property_value: exactMatch DOID:10883
property_value: exactMatch http://identifiers.org/mesh/D006557
property_value: exactMatch http://identifiers.org/snomedct/274102007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019338

[Term]
id: MONDO:0005792
name: herpes simplex virus gingivostomatitis
def: "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." [MESH:D013283]
synonym: "Gingivostomatitides, herpetic" RELATED [MESH:D013283]
synonym: "Gingivostomatitis, herpetic" RELATED [MESH:D013283]
synonym: "Herpes simplex, oral" RELATED [MESH:D013283]
synonym: "herpetic Gingivostomatitides" RELATED [MESH:D013283]
synonym: "herpetic Gingivostomatitis" RELATED [MESH:D013283]
synonym: "herpetic Stomatitides" RELATED [MESH:D013283]
synonym: "herpetic stomatitis" RELATED [MESH:D013283]
synonym: "oral Herpes simplex" RELATED [MESH:D013283]
synonym: "simplex, oral Herpes" RELATED [MESH:D013283]
synonym: "Simplexvirus caused stomatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus stomatitis" EXACT []
synonym: "Stomatitides, herpetic" RELATED [MESH:D013283]
xref: EFO:0007307 {source="MONDO:equivalentTo"}
xref: MESH:D013283 {source="MONDO:equivalentTo", source="EFO:0007307"}
xref: SCTID:57920007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004609 {source="EFO:0007307", source="MESH:D013283", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! herpes simplex infectious disease
is_a: MONDO:0004842 {source="MESH:D013283", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! stomatitis
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch DOID:9059
property_value: exactMatch http://identifiers.org/mesh/D013283
property_value: exactMatch http://identifiers.org/snomedct/57920007

[Term]
id: MONDO:0005793
name: obsolete herpes simplex virus keratitis
is_obsolete: true
replaced_by: MONDO:0015288

[Term]
id: MONDO:0005794
name: Herpesviridae infectious disease
def: "Virus diseases caused by the herpesviridae." [MESH:D006566]
synonym: "herpes infection" RELATED []
synonym: "Herpesviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae disease or disorder" EXACT []
synonym: "Herpesviridae infection" RELATED [MESH:D006566]
synonym: "Herpesviridae infections" EXACT [MONDO:0024460]
synonym: "Herpesvirus infection" RELATED [MESH:D006566]
synonym: "herpesvirus infection" EXACT []
synonym: "Herpesvirus infections" RELATED [MESH:D006566]
synonym: "infection, Herpesviridae" RELATED [MESH:D006566]
synonym: "infection, Herpesvirus" RELATED [MESH:D006566]
synonym: "infections, Herpesviridae" RELATED [MESH:D006566]
synonym: "infections, Herpesvirus" RELATED [MESH:D006566]
xref: EFO:0007309 {source="MONDO:equivalentTo"}
xref: MESH:D006566 {source="MONDO:equivalentTo", source="EFO:0007309"}
xref: SCTID:23513009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007309", source="MESH:D006566/inferred", source="MONDO:Redundant", source="MONDOLEX:0005794", source="linkedlifedata"} ! viral infectious disease
property_value: closeMatch DOID:2939
property_value: exactMatch http://identifiers.org/mesh/D006566
property_value: exactMatch http://identifiers.org/snomedct/23513009

[Term]
id: MONDO:0005795
name: obsolete histoplasmosis
is_obsolete: true
replaced_by: MONDO:0018312

[Term]
id: MONDO:0005796
name: HIV enteropathy
def: "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" [MESH:D019053]
xref: EFO:0007311 {source="MONDO:equivalentTo"}
xref: MESH:D019053 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007311"}
xref: UMLS:C0282616 {source="MONDO:equivalentTo"}
is_a: MONDO:0024571 ! AIDS-related disorder
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0005020 ! intestinal disease
relationship: disease_has_feature MONDO:0005020 ! intestinal disease
relationship: excluded_subClassOf MONDO:0005020 {source="MESH:D019053"} ! intestinal disease
relationship: excluded_subClassOf MONDO:0005109 {source="EFO:0007311", source="MESH:D019053"} ! HIV infectious disease
property_value: closeMatch DOID:13251
property_value: exactMatch http://identifiers.org/mesh/D019053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282616

[Term]
id: MONDO:0005797
name: HIV wasting syndrome
def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247]
xref: EFO:0007312 {source="MONDO:equivalentTo"}
xref: MESH:D019247 {source="EFO:0007312", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0343755 {source="MONDO:equivalentTo"}
is_a: MONDO:0005109 {source="EFO:0007312", source="MESH:D019247"} ! HIV infectious disease
is_a: MONDO:0024571 ! AIDS-related disorder
property_value: closeMatch DOID:1313
property_value: exactMatch http://identifiers.org/mesh/D019247
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343755

[Term]
id: MONDO:0005798
name: HIV-associated nephropathy
def: "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." [NCIT:C26918]
synonym: "AIDS-associated nephropathy" EXACT [NCIT:C26918]
synonym: "AIDS-related nephropathy" EXACT [NCIT:C26918]
synonym: "HIV nephropathy" EXACT [NCIT:C26918]
synonym: "HIVAN" EXACT [NCIT:C26918]
xref: EFO:0007313 {source="MONDO:equivalentTo"}
xref: MESH:D016263 {source="EFO:0007313", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26918 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0078911 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C26918", source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="NCIT:C26918"} ! focal segmental glomerulosclerosis
is_a: MONDO:0024571 ! AIDS-related disorder
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0005240 ! kidney disease
relationship: disease_has_feature MONDO:0005240 ! kidney disease
relationship: excluded_subClassOf MONDO:0005108 {source="EFO:0007313", source="MESH:D016263/inferred", source="MONDO:Redundant"} ! viral infectious disease
relationship: excluded_subClassOf MONDO:0005109 {source="MESH:D016263"} ! HIV infectious disease
relationship: excluded_subClassOf MONDO:0005240 {source="MESH:D016263", source="MONDO:Redundant"} ! kidney disease
property_value: closeMatch DOID:1311
property_value: exactMatch http://identifiers.org/mesh/D016263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078911
property_value: exactMatch NCIT:C26918

[Term]
id: MONDO:0005799
name: hookworm infectious disease
def: "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available." [MESH:D006725]
comment: Editor note: TODO
synonym: "Bunostomiases" RELATED [MESH:D006725]
synonym: "Bunostomiasis" RELATED [MESH:D006725]
synonym: "hookworm infection" RELATED [MESH:D006725]
synonym: "infection, hookworm" RELATED [MESH:D006725]
synonym: "infections, hookworm" RELATED [MESH:D006725]
xref: EFO:0007314 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="EFO:0007314"} ! infectious disease
property_value: closeMatch DOID:2791

[Term]
id: MONDO:0005800
name: hordeolum
def: "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "blepharitis of eyelid gland" EXACT [MONDO:design_pattern]
synonym: "boil of eyelid" EXACT [DOID:9909]
synonym: "eyelid gland blepharitis" EXACT [MONDO:patterns/location]
synonym: "furuncle of eyelid" EXACT [DOID:9909, MTHICD9_2006:373.13]
synonym: "Stye" EXACT [DOID:9909, MTHICD9_2006:373.11, NCIT:C118722]
xref: DOID:9909 {source="EFO:0007315", source="MONDO:equivalentTo"}
xref: EFO:0007315 {source="MONDO:equivalentTo"}
xref: ICD10:H00.01 {source="DOID:9909"}
xref: MESH:D006726 {source="EFO:0007315", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9909"}
xref: NCIT:C118722 {source="MONDO:kboom-pr-1.00/0.84/14.64", source="MONDO:equivalentTo", source="DOID:9909"}
xref: SCTID:397513003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.66/0.12", source="DOID:9909"}
xref: UMLS:C0019917 {source="MONDO:equivalentTo", source="NCIT:C118722", source="DOID:9909"}
is_a: MONDO:0004785 ! blepharitis
is_a: MONDO:0005093 {source="DOID:9909"} ! skin disease
relationship: disease_has_feature MONDO:0004785 ! blepharitis
property_value: closeMatch http://identifiers.org/snomedct/155172004
property_value: closeMatch http://identifiers.org/snomedct/193912000
property_value: closeMatch http://identifiers.org/snomedct/267736000
property_value: closeMatch http://identifiers.org/snomedct/74612003
property_value: exactMatch DOID:9909
property_value: exactMatch http://identifiers.org/mesh/D006726
property_value: exactMatch http://identifiers.org/snomedct/397513003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019917
property_value: exactMatch NCIT:C118722

[Term]
id: MONDO:0005801
name: human T-lymphotropic virus 1 infectious disease
def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [EFO:0007316]
subset: gard_rare
synonym: "HTLV-1" RELATED [GARD:0009645]
synonym: "Human T lymphotropic virus type 1" RELATED [GARD:0009645]
synonym: "Human T-lymphotropic virus 1 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human T-lymphotropic virus 1 disease or disorder" EXACT []
synonym: "Human T-lymphotropic virus 1 infectious disease" EXACT []
synonym: "human T-lymphotropic virus 1 infectious disease" EXACT []
xref: EFO:0007316 {source="MONDO:equivalentTo"}
xref: GARD:0009645 {source="MONDO:equivalentTo"}
xref: MESH:D015490 {source="EFO:0007316", source="MONDO:equivalentTo"}
xref: UMLS:C0020097 {source="MONDO:equivalentTo"}
is_a: MONDO:0021184 ! deltaretrovirus infections
property_value: closeMatch DOID:323
property_value: exactMatch http://identifiers.org/mesh/D015490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020097

[Term]
id: MONDO:0005802
name: hymenolepiasis
def: "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." [NCIT:C84768]
subset: gard_rare {source="GARD:0002787"}
subset: ordo_disease {source="Orphanet:401"}
synonym: "dwarf tapeworm infection" EXACT [DOID:10074]
synonym: "hymenolepiasis" EXACT [NCIT:C84768]
synonym: "Hymenolepis infectious disease" EXACT [DOID:10074, MTHICD9_2006:123.6]
synonym: "Hymenolepsis infection" RELATED [GARD:0002787]
xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"}
xref: EFO:0007317 {source="MONDO:equivalentTo"}
xref: GARD:0002787 {source="MONDO:equivalentTo"}
xref: ICD10:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="DOID:10074", source="ORDO:401/e"}
xref: ICD9:123.6 {source="MONDO:equivalentTo", source="DOID:10074", source="i2s"}
xref: MedDRA:10020546 {source="Orphanet:401", source="ORDO:401/e"}
xref: MESH:D006925 {source="Orphanet:401", source="EFO:0007317", source="MONDO:equivalentTo", source="DOID:10074", source="MONDO:ontobio", source="ORDO:401/e"}
xref: NCIT:C84768 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10074"}
xref: Orphanet:401 {source="MONDO:equivalentTo"}
xref: SCTID:44917000 {source="MONDO:equivalentTo", source="DOID:10074", source="MONDO:kboom-pr-0.93/0.67/1.90"}
xref: UMLS:C0020413 {source="Orphanet:401", source="NCIT:C84768", source="MONDO:equivalentTo", source="DOID:10074", source="ORDO:401/e"}
xref: UMLS:C0277045 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004664 {source="DOID:10074", source="ICD10:B71.0/inferred", source="MESH:D006925/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
relationship: disease_has_feature MONDO:0002280 {source="Wikidata"} ! anemia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187153007
property_value: exactMatch DOID:10074
property_value: exactMatch http://identifiers.org/meddra/10020546
property_value: exactMatch http://identifiers.org/mesh/D006925
property_value: exactMatch http://identifiers.org/snomedct/44917000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277045
property_value: exactMatch NCIT:C84768
property_value: exactMatch Orphanet:401
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis xsd:anyURI {source="GARD:0002787"}

[Term]
id: MONDO:0005803
name: hyperinsulinemic hypoglycemia (disease)
def: "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." [MESH:D046768]
synonym: "hyperinsulinemic hypoglycemia" EXACT [MONDO:ambiguous]
synonym: "islet cell hyperplasia" EXACT [DOID:13317]
synonym: "nesidioblastosis" EXACT [DOID:13317]
synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [DOID:13317]
xref: DOID:13317 {source="MONDO:equivalentTo", source="EFO:0007318"}
xref: EFO:0007318 {source="MONDO:equivalentTo"}
xref: HP:0000825 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E16.9 {source="DOID:13317"}
xref: SCTID:42681006 {source="DOID:13317", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.16"}
is_a: MONDO:0019214 {source="DOID:13317", source="EFO:0007318"} ! inborn carbohydrate metabolic disorder
property_value: closeMatch http://identifiers.org/mesh/D046768
property_value: closeMatch http://identifiers.org/snomedct/190450004
property_value: closeMatch http://identifiers.org/snomedct/237649006
property_value: closeMatch http://identifiers.org/snomedct/360337007
property_value: closeMatch http://identifiers.org/snomedct/66149005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027773
property_value: exactMatch DOID:13317
property_value: exactMatch http://identifiers.org/snomedct/42681006

[Term]
id: MONDO:0005804
name: hyperprolactinemia (disease)
def: "Abnormally high level of prolactin in the blood." [NCIT:P378]
synonym: "hyperprolactinaemia" EXACT [MESH:D006966]
synonym: "hyperprolactinemia" EXACT [MONDO:ambiguous]
synonym: "hyperprolactinemias" RELATED [MESH:D006966]
synonym: "hypersecretion syndrome, prolactin" RELATED [MESH:D006966]
synonym: "inappropriate prolactin secretion" RELATED [MESH:D006966]
synonym: "inappropriate prolactin secretion syndrome" RELATED [MESH:D006966]
synonym: "inappropriate secretion prolactin" RELATED [MESH:D006966]
synonym: "prolactin hypersecretion syndrome" RELATED [MESH:D006966]
synonym: "prolactin secretion, inappropriate" RELATED [MESH:D006966]
synonym: "prolactin, inappropriate secretion" RELATED [MESH:D006966]
synonym: "secretion prolactin, inappropriate" RELATED [MESH:D006966]
synonym: "secretion, inappropriate prolactin" RELATED [MESH:D006966]
synonym: "syndrome, prolactin hypersecretion" RELATED [MESH:D006966]
xref: COHD:4030186 {source="MONDO:equivalentTo"}
xref: EFO:0007319 {source="MONDO:equivalentTo"}
xref: HP:0000870 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E22.1 {source="MONDO:equivalentTo"}
xref: ICD9:253.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006966 {source="MONDO:equivalentTo"}
xref: SCTID:237662005 {source="MONDO:equivalentTo"}
xref: UMLS:C0020514 {source="MONDO:equivalentTo"}
is_a: MONDO:0006793 {source="MESH:D006966", source="linkedlifedata"} ! hyperpituitarism
property_value: exactMatch http://identifiers.org/mesh/D006966
property_value: exactMatch http://identifiers.org/snomedct/237662005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020514
property_value: exactMatch NCIT:C113168

[Term]
id: MONDO:0005805
name: hypodermyiasis
def: "Infestation with larvae of the genus Hypoderma, the warble fly." [MESH:D007000]
synonym: "Oestridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oestridae disease or disorder" EXACT []
synonym: "Oestridae infectious disease" EXACT []
xref: DOID:12926 {source="MONDO:equivalentTo", source="EFO:0007320"}
xref: EFO:0007320 {source="MONDO:equivalentTo"}
xref: MESH:D007000 {source="DOID:12926", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007320"}
xref: Orphanet:430 {source="MONDO:equivalentTo"}
xref: UMLS:C0020607 {source="DOID:12926", source="MONDO:equivalentTo"}
is_a: MONDO:0019147 {source="DOID:12926", source="MESH:D007000"} ! myiasis
property_value: exactMatch DOID:12926
property_value: exactMatch http://identifiers.org/mesh/D007000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020607
property_value: exactMatch Orphanet:430

[Term]
id: MONDO:0005806
name: hypopharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the hypopharynx." [NCIT:P378]
synonym: "hypopharyngeal cancer" EXACT [DOID:8533, MTH:NOCODE]
synonym: "hypopharynx pharynx cancer" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "hypural pharynx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hypopharyngeal neoplasm" EXACT [NCIT:C7190]
synonym: "malignant hypopharyngeal tumor" EXACT [DOID:8533, NCIT:C7190]
synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM_2006:148, NCIT:C7190]
synonym: "malignant neoplasm of hypopharynx NOS" RELATED EXCLUDE [DOID:8533, MTHICD9_2006:148.9]
synonym: "malignant neoplasm of hypopharynx, NOS" RELATED EXCLUDE [DOID:8533]
synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [DOID:8533]
synonym: "malignant neoplasm of other specified hypopharyngeal site" EXACT [DOID:8533]
synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [DOID:8533]
synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [DOID:8533]
synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [DOID:8533, MTH:U001377]
synonym: "malignant neoplasm of the hypopharynx" EXACT [NCIT:C7190]
synonym: "malignant tumor of hypopharynx" EXACT [NCIT:C7190]
synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [DOID:8533]
synonym: "malignant tumor of the hypopharynx" EXACT [NCIT:C7190]
synonym: "malignant tumour of hypopharynx" EXACT [DOID:8533]
synonym: "pharynx cancer of hypopharynx" EXACT [MONDO:design_pattern]
xref: DOID:8533 {source="MONDO:equivalentTo", source="EFO:0007321"}
xref: EFO:0007321 {source="MONDO:equivalentTo"}
xref: GARD:0009334 {source="MONDO:equivalentTo"}
xref: ICD10:C13 {source="DOID:8533", source="MONDO:equivalentTo"}
xref: ICD10:C13.2 {source="DOID:8533"}
xref: ICD10:C13.9 {source="DOID:8533"}
xref: ICD9:148 {source="DOID:8533"}
xref: ICD9:148.3 {source="DOID:8533", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:148.9 {source="DOID:8533"}
xref: MESH:D007012 {source="DOID:8533", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007321"}
xref: NCIT:C7190 {source="DOID:8533", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.74/0.65"}
xref: SCTID:303012000 {source="DOID:8533", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0005517 {source="DOID:8533", source="EFO:0007321", source="MESH:D007012", source="MONDO:Redundant", source="MONDOLEX:0005806", source="NCIT:C7190"} ! pharynx cancer
is_a: MONDO:0021358 ! neoplasm of hypopharynx
property_value: closeMatch http://identifiers.org/snomedct/187712005
property_value: closeMatch http://identifiers.org/snomedct/187717004
property_value: closeMatch http://identifiers.org/snomedct/363399006
property_value: closeMatch http://identifiers.org/snomedct/93831006
property_value: closeMatch http://identifiers.org/snomedct/93968005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153398
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496770
property_value: exactMatch DOID:8533
property_value: exactMatch http://identifiers.org/mesh/D007012
property_value: exactMatch http://identifiers.org/snomedct/303012000
property_value: exactMatch NCIT:C7190

[Term]
id: MONDO:0005807
name: idiopathic CD4-positive T-lymphocytopenia
def: "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections." [NCIT:P378]
xref: DOID:3109 {source="MONDO:equivalentTo", source="EFO:0007322"}
xref: EFO:0007322 {source="MONDO:equivalentTo"}
xref: MESH:D018344 {source="MONDO:equivalentTo", source="DOID:3109", source="MONDO:ontobio", source="EFO:0007322"}
xref: NCIT:C84780 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3109"}
xref: UMLS:C0206744 {source="MONDO:equivalentTo", source="NCIT:C84780", source="DOID:3109"}
is_a: MONDO:0003780 {source="NCIT:C84780"} ! T-cell immunodeficiency
is_a: MONDO:0003783 {source="DOID:3109", source="MESH:D018344"} ! lymphopenia (disease)
property_value: exactMatch DOID:3109
property_value: exactMatch http://identifiers.org/mesh/D018344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206744
property_value: exactMatch NCIT:C84780

[Term]
id: MONDO:0005808
name: inclusion conjunctivitis
def: "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." [NCIT:C116817]
subset: gard_rare {source="GARD:0006777"}
synonym: "adult inclusion conjunctivitis" EXACT [DOID:13800]
synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800]
synonym: "inclusion blennorrhoea" EXACT [DOID:13800]
synonym: "inclusion blenorrhea" EXACT [CSP2005:1114-8463, DOID:13800]
synonym: "neonatal Chlamydia conjunctivitis" EXACT [NCIT:C116817]
synonym: "Paratrachoma" RELATED [DOID:13800, MTHICD9_2006:077.0]
synonym: "Trachoma" EXACT [NCIT:C116817]
xref: COHD:372550 {source="MONDO:equivalentTo"}
xref: DOID:13800 {source="EFO:0007324", source="MONDO:equivalentTo"}
xref: EFO:0007324 {source="MONDO:equivalentTo"}
xref: GARD:0006777 {source="MONDO:equivalentTo"}
xref: ICD10:A74.0 {source="DOID:13800", source="MONDO:equivalentTo"}
xref: ICD9:077.0 {source="DOID:13800"}
xref: ICD9:077.98 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003235 {source="DOID:13800", source="EFO:0007324", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116817 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: SCTID:231861005 {source="DOID:13800", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.81/0.56/0.46"}
xref: UMLS:C0009770 {source="DOID:13800", source="MONDO:equivalentTo"}
is_a: MONDO:0005701 ! chlamydia trachomatis infectious disease
is_a: MONDO:0006668 {source="MESH:D003235", source="NCIT:C116817"} ! bacterial conjunctivitis
property_value: closeMatch http://identifiers.org/snomedct/111840005
property_value: closeMatch http://identifiers.org/snomedct/154370006
property_value: closeMatch http://identifiers.org/snomedct/186674002
property_value: closeMatch http://identifiers.org/snomedct/186733005
property_value: closeMatch http://identifiers.org/snomedct/266109000
property_value: closeMatch http://identifiers.org/snomedct/266202002
property_value: closeMatch http://identifiers.org/snomedct/56009001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343723
property_value: exactMatch DOID:13800
property_value: exactMatch http://identifiers.org/mesh/D003235
property_value: exactMatch http://identifiers.org/snomedct/231861005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009770
property_value: exactMatch NCIT:C116817
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis xsd:anyURI {source="GARD:0006777"}

[Term]
id: MONDO:0005809
name: infectious ectromelia
def: "A viral infection of mice, causing edema and necrosis followed by limb loss." [MESH:D004482]
xref: EFO:0007325 {source="MONDO:equivalentTo"}
xref: MESH:D004482 {source="EFO:0007325", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0013591 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007325", source="MESH:D004482/inferred"} ! non-human animal disease
property_value: closeMatch DOID:3296
property_value: exactMatch http://identifiers.org/mesh/D004482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013591

[Term]
id: MONDO:0005810
name: infectious mononucleosis
def: "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." [NCIT:P378]
synonym: "Filatov's disease" EXACT [DOID:8568]
synonym: "Gammaherpesviral mononucleosis" EXACT [DOID:8568]
synonym: "glandular fever" EXACT [DOID:8568]
synonym: "Mono" EXACT [NCIT:C34726]
synonym: "monocytic angina" EXACT [DOID:8568, MTHICD9_2006:075]
synonym: "mononucleosis" EXACT [CSP2005:0427-6541, DOID:8568]
synonym: "Pfeiffer's disease" EXACT [DOID:8568]
xref: COHD:437784 {source="MONDO:equivalentTo"}
xref: DOID:8568 {source="EFO:0007326", source="MONDO:equivalentTo"}
xref: EFO:0007326 {source="MONDO:equivalentTo"}
xref: ICD10:B27 {source="DOID:8568"}
xref: ICD10:B27.0 {source="DOID:8568"}
xref: ICD10:B27.9 {source="DOID:8568"}
xref: ICD9:075 {source="DOID:8568"}
xref: MESH:D007244 {source="EFO:0007326", source="DOID:8568", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34726 {source="DOID:8568", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:186668002 {source="DOID:8568", source="MONDO:kboom-pr-0.92/0.84/0.18", source="MONDO:equivalentTo"}
xref: UMLS:C0021345 {source="NCIT:C34726", source="DOID:8568", source="MONDO:equivalentTo"}
is_a: MONDO:0005111 {source="MESH:D007244", source="MONDO:Redundant", source="NCIT:C34726", source="indirect"} ! Epstein-Barr virus infection
property_value: closeMatch http://identifiers.org/snomedct/154359004
property_value: closeMatch http://identifiers.org/snomedct/186667007
property_value: closeMatch http://identifiers.org/snomedct/186670006
property_value: closeMatch http://identifiers.org/snomedct/187460007
property_value: closeMatch http://identifiers.org/snomedct/26851006
property_value: closeMatch http://identifiers.org/snomedct/271558008
property_value: closeMatch http://identifiers.org/snomedct/314131007
property_value: exactMatch DOID:8568
property_value: exactMatch http://identifiers.org/mesh/D007244
property_value: exactMatch http://identifiers.org/snomedct/186668002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021345
property_value: exactMatch NCIT:C34726

[Term]
id: MONDO:0005811
name: infectious myxomatosis
def: "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." [EFO:0007327]
xref: EFO:0007327 {source="MONDO:equivalentTo"}
xref: MESH:D009234 {source="EFO:0007327", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0027152 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007327", source="MESH:D009234"} ! non-human animal disease
property_value: closeMatch DOID:3297
property_value: exactMatch http://identifiers.org/mesh/D009234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027152

[Term]
id: MONDO:0005812
name: influenza
def: "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." [NCIT:P378]
synonym: "flu" EXACT [DOID:8469]
synonym: "influenza infection" EXACT [MONDO:0005162]
synonym: "influenza with non-respiratory manifestation" EXACT [DOID:8469]
synonym: "Influenza with other manifestations" EXACT [DOID:8469, ICD9CM_2006:487.8]
xref: COHD:320752 {source="MONDO:equivalentTo"}
xref: DOID:8469 {source="MONDO:subClassOf", source="EFO:0007328", source="MONDO:equivalentTo", source="EFO:0001669"}
xref: EFO:0007328 {source="MONDO:equivalentTo"}
xref: ICD10:J11.1 {source="DOID:8469"}
xref: ICD9:487 {source="DOID:8469", source="EFO:0001669"}
xref: ICD9:487.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007251 {source="DOID:8469", source="EFO:0007328", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C53482 {source="DOID:8469", source="MONDO:equivalentTo", source="EFO:0001669"}
xref: SCTID:61700007 {source="MONDO:kboom-pr-0.92/0.78/0.82", source="MONDO:equivalentTo"}
is_a: MONDO:0005889 ! orthomyxoviridae infectious disease
is_a: MONDO:0024352 ! viral respiratory tract infection
property_value: closeMatch http://identifiers.org/snomedct/155559006
property_value: closeMatch http://identifiers.org/snomedct/155562009
property_value: closeMatch http://identifiers.org/snomedct/195931008
property_value: closeMatch http://identifiers.org/snomedct/266353003
property_value: closeMatch http://identifiers.org/snomedct/266393000
property_value: closeMatch http://identifiers.org/snomedct/6142004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021400
property_value: exactMatch DOID:8469
property_value: exactMatch http://identifiers.org/mesh/D007251
property_value: exactMatch http://identifiers.org/snomedct/61700007
property_value: exactMatch NCIT:C53482

[Term]
id: MONDO:0005813
name: interdigitating dendritic cell sarcoma
def: "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" [NCIT:C9282]
synonym: "interdigitating cell sarcoma" EXACT [DOID:7848, NCIT:C9282]
synonym: "interdigitating cell sarcoma/tumor" EXACT [NCIT:C9282]
synonym: "interdigitating Dendritic cell sarcoma" EXACT [NCIT:C9282]
synonym: "interdigitating Dendritic cell sarcoma/tumor" EXACT [NCIT:C9282]
xref: DOID:7848 {source="MONDO:equivalentTo", source="EFO:0007329"}
xref: EFO:0007329 {source="MONDO:equivalentTo"}
xref: ICD10:C96.4 {source="DOID:7848"}
xref: ICDO:9757/1 {source="NCIT:C9282"}
xref: ICDO:9757/3 {source="NCIT:C9282"}
xref: MESH:D054739 {source="MONDO:equivalentTo", source="EFO:0007329", source="DOID:7848"}
xref: NCIT:C9282 {source="MONDO:equivalentTo", source="DOID:7848", source="exact-label-match"}
xref: ONCOTREE:IDCS {source="MONDO:equivalentTo"}
xref: SCTID:715664005 {source="MONDO:kboom-pr-0.95/0.83/1.29", source="MONDO:equivalentTo"}
is_a: MONDO:0004380 {source="MONDOLEX:0005813", source="OWLReasoner:2017"} ! dendritic cell sarcoma
property_value: closeMatch http://identifiers.org/snomedct/128815007
property_value: exactMatch DOID:7848
property_value: exactMatch http://identifiers.org/mesh/D054739
property_value: exactMatch http://identifiers.org/snomedct/715664005
property_value: exactMatch NCIT:C9282

[Term]
id: MONDO:0005814
name: intestinal cancer
def: "A malignant neoplasm involving the intestine" [MONDO:DesignPattern]
synonym: "bowel cancer" EXACT [NCIT:C4572]
synonym: "cancer of intestine" EXACT [MONDO:patterns/cancer, NCIT:C4572]
synonym: "cancer of the intestine" EXACT [NCIT:C4572]
synonym: "intestinal cancer" EXACT [NCIT:C4572]
synonym: "intestinal neoplasms, malignant" EXACT [NCIT:C4572]
synonym: "intestinal tumors, malignant" EXACT [NCIT:C4572]
synonym: "intestine cancer" EXACT [MONDO:patterns/location]
synonym: "malignant intestinal neoplasm" EXACT [NCIT:C4572]
synonym: "malignant intestinal neoplasms" EXACT [NCIT:C4572]
synonym: "malignant intestinal tumor" EXACT [NCIT:C4572]
synonym: "malignant intestinal tumors" EXACT [DOID:10155, NCIT:C4572]
synonym: "malignant intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4572]
synonym: "malignant intestine tumor" EXACT [NCIT:C4572]
synonym: "malignant neoplasm of intestine" EXACT [DOID:10155, MONDO:patterns/cancer, NCIT:C4572]
synonym: "malignant neoplasm of the intestine" EXACT [NCIT:C4572]
synonym: "malignant tumor of intestine" EXACT [NCIT:C4572]
synonym: "malignant tumor of the intestine" EXACT [NCIT:C4572]
xref: DOID:10155 {source="MONDO:equivalentTo", source="EFO:0007330"}
xref: EFO:0007330 {source="MONDO:equivalentTo"}
xref: ICD10:C26.0 {source="DOID:10155"}
xref: ICD9:159.0 {source="DOID:10155"}
xref: MESH:D007414 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10155", source="EFO:0007330"}
xref: NCIT:C4572 {source="MONDO:kboom-pr-0.96/0.92/0.36", source="MONDO:equivalentTo", source="DOID:10155"}
xref: SCTID:363508008 {source="MONDO:equivalentTo", source="DOID:10155"}
xref: UMLS:C0346627 {source="NCIT:C4572", source="MONDO:equivalentTo", source="DOID:10155"}
is_a: MONDO:0002516 {source="DOID:10155", source="MONDO:Redundant", source="NCIT:C4572"} ! digestive system cancer
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4572", source="OWLReasoner:2017", source="linkedlifedata"} ! intestinal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187819006
property_value: closeMatch http://identifiers.org/snomedct/190089002
property_value: closeMatch http://identifiers.org/snomedct/93838000
property_value: exactMatch DOID:10155
property_value: exactMatch http://identifiers.org/mesh/D007414
property_value: exactMatch http://identifiers.org/snomedct/363508008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346627
property_value: exactMatch NCIT:C4572

[Term]
id: MONDO:0005815
name: pancreatic neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." [NCIT:C27031]
comment: Editor note: classified as carcinoma in EFO
subset: ordo_group_of_disorders
synonym: "endocrine pancreas cancer" NARROW [DOID:1799]
synonym: "endocrine pancreas neoplasm" EXACT []
synonym: "endocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "islet cell neoplasm" NARROW [DOID:1799]
synonym: "islet cell tumor" EXACT [DOID:1799, MTHICD9_2006:211.7]
synonym: "Islet cell tumors" RELATED [GARD:0007311]
synonym: "islet cell tumour" EXACT [DOID:1799]
synonym: "Islet of Langerhans tumor" RELATED [GARD:0007311]
synonym: "malignant pancreatic endocrine tumor" NARROW [DOID:1799, NCIT:C3770]
synonym: "malignant tumor of endocrine pancreas" EXACT [DOID:1799]
synonym: "neoplasm of endocrine pancreas" EXACT [MONDO:patterns/neoplasm]
synonym: "neuroendocrine neoplasm of pancreas" RELATED [Orphanet:506052]
synonym: "pancreatic endocrine neoplasm" EXACT [DOID:1799, NCIT:C27031]
synonym: "pancreatic NEN" EXACT [Orphanet:506052]
synonym: "pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27031, Orphanet:506052]
synonym: "PNEN" EXACT [Orphanet:506052]
synonym: "tumor of endocrine pancreas" EXACT [MONDO:patterns/neoplasm]
xref: DOID:1799 {source="MONDO:equivalentTo", source="EFO:0007331"}
xref: EFO:0007331 {source="MONDO:equivalentTo"}
xref: GARD:0007311 {source="MONDO:equivalentTo"}
xref: ICD10:C25.4 {source="MONDO:superClassOf", source="DOID:1799"}
xref: ICD10:D13.7 {source="DOID:1799"}
xref: ICDO:8150/1 {source="NCIT:C27031"}
xref: NCIT:C27031 {source="MONDO:equivalentTo", source="DOID:1799"}
xref: Orphanet:506052 {source="MONDO:equivalentTo"}
xref: SCTID:254611009 {source="MONDO:kboom-pr-0.91/0.75/0.83", source="MONDO:equivalentTo", source="DOID:1799"}
is_a: MONDO:0001933 {source="DOID:1799", source="MONDO:Redundant", source="NCIT:C27031", source="linkedlifedata/inferred"} ! endocrine pancreas disease
is_a: MONDO:0018520 {source="Orphanet:506052"} ! rare epithelial tumor of pancreas
is_a: MONDO:0024503 {source="Orphanet:506052"} ! digestive system neuroendocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D007516
property_value: closeMatch http://identifiers.org/snomedct/126864006
property_value: closeMatch http://identifiers.org/snomedct/128878003
property_value: closeMatch http://identifiers.org/snomedct/154609001
property_value: closeMatch http://identifiers.org/snomedct/188855000
property_value: closeMatch http://identifiers.org/snomedct/237596009
property_value: closeMatch http://identifiers.org/snomedct/261713004
property_value: closeMatch http://identifiers.org/snomedct/269636003
property_value: closeMatch http://identifiers.org/snomedct/399528006
property_value: closeMatch http://identifiers.org/snomedct/76345009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242363
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496784
property_value: exactMatch DOID:1799
property_value: exactMatch http://identifiers.org/snomedct/254611009
property_value: exactMatch NCIT:C27031
property_value: exactMatch Orphanet:506052

[Term]
id: MONDO:0005816
name: obsolete Japanese encephalitis
is_obsolete: true
replaced_by: MONDO:0019209

[Term]
id: MONDO:0005817
name: Kluver-Bucy syndrome
alt_id: MONDO:0015527
def: "Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." [https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome]
subset: gard_rare {source="GARD:0006840"}
subset: ordo_clinical_syndrome {source="Orphanet:157823"}
synonym: "bilateral temporal lobe disorder" RELATED [GARD:0006840]
synonym: "KLuever-Bucy syndrome" RELATED []
synonym: "Kluver Bucy syndrome" RELATED [GARD:0006840, MESH:D020232]
synonym: "Klver-Bucy syndrome" EXACT [DOID:2510]
synonym: "KLüver-Bucy syndrome" EXACT [Orphanet:157823]
synonym: "memory loss, extreme sexual behavior, placidity, and visual distractibility" RELATED [GARD:0006840]
synonym: "post-encephalitic Kluver Bucy syndrome (type)" RELATED [GARD:0006840]
synonym: "post-traumatic Kluver Bucy syndrome (type)" RELATED [GARD:0006840]
synonym: "syndrome, Kluver-Bucy" RELATED [MESH:D020232]
synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232]
xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"}
xref: EFO:0007335 {source="MONDO:equivalentTo"}
xref: GARD:0006840 {source="MONDO:equivalentTo"}
xref: MedDRA:10066431 {source="ORDO:157823/e", source="Orphanet:157823"}
xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="ORDO:157823/e", source="Orphanet:157823", source="MONDO:ontobio"}
xref: NCIT:C84802 {source="DOID:2510", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:157823 {source="MONDO:equivalentTo"}
xref: SCTID:10651001 {source="MONDO:kboom-pr-1.00/0.79/8.11", source="DOID:2510", source="MONDO:equivalentTo"}
is_a: MONDO:0001162 {source="DOID:2510"} ! impulse control disorder
is_a: MONDO:0002254 {source="MONDOLEX:0005817", source="NCIT:C84802"} ! syndromic disease
is_a: MONDO:0005084 {source="EFO:0007335"} ! mental disorder
is_a: MONDO:0015659 {source="Orphanet:157823"} ! infectious disease with epilepsy
is_a: MONDO:0020067 {source="Orphanet:157823"} ! infectious encephalitis
property_value: exactMatch DOID:2510
property_value: exactMatch http://identifiers.org/meddra/10066431
property_value: exactMatch http://identifiers.org/mesh/D020232
property_value: exactMatch http://identifiers.org/snomedct/10651001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270707
property_value: exactMatch NCIT:C84802
property_value: exactMatch Orphanet:157823
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome xsd:anyURI {source="GARD:0006840"}

[Term]
id: MONDO:0005818
name: obsolete Langerhans cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019480

[Term]
id: MONDO:0005819
name: laryngeal tuberculosis
def: "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." [NCIT:C26895]
synonym: "larynx tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculous laryngitis" EXACT [NCIT:C26895]
xref: DOID:1583 {source="EFO:0007337", source="MONDO:equivalentTo"}
xref: EFO:0007337 {source="MONDO:equivalentTo"}
xref: ICD10:A15.5 {source="DOID:1583"}
xref: ICD9:012.3 {source="DOID:1583"}
xref: ICD9:012.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:012.31 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:012.32 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014387 {source="EFO:0007337", source="DOID:1583", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26895 {source="DOID:1583", source="MONDO:equivalentTo"}
xref: SCTID:70341005 {source="DOID:1583", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.04"}
xref: UMLS:C0041315 {source="DOID:1583", source="MONDO:equivalentTo"}
is_a: MONDO:0002647 {source="DOID:1583", source="NCIT:C26895", source="linkedlifedata"} ! laryngitis
is_a: MONDO:0018076 {source="EFO:0007337", source="MESH:D014387", source="MONDO:Redundant", source="NCIT:C26895", source="linkedlifedata"} ! tuberculosis
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: exactMatch DOID:1583
property_value: exactMatch http://identifiers.org/mesh/D014387
property_value: exactMatch http://identifiers.org/snomedct/70341005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041315
property_value: exactMatch NCIT:C26895

[Term]
id: MONDO:0005820
name: Lassa fever
def: "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." [NCIT:C128418]
subset: ordo_disease {source="Orphanet:99824"}
synonym: "Lassa hemorrhagic fever" EXACT [Orphanet:99824]
synonym: "LF" EXACT [Orphanet:99824]
xref: DOID:9537 {source="EFO:0007338", source="MONDO:equivalentTo"}
xref: EFO:0007338 {source="MONDO:equivalentTo"}
xref: ICD10:A96.2 {source="DOID:9537", source="ORDO:99824/e", source="MONDO:equivalentTo", source="Orphanet:99824"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10023927 {source="ORDO:99824/e", source="Orphanet:99824"}
xref: MESH:D007835 {source="DOID:9537", source="ORDO:99824/e", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824", source="MONDO:ontobio"}
xref: NCIT:C128418 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:99824 {source="MONDO:equivalentTo"}
xref: SCTID:19065005 {source="DOID:9537", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023092 {source="DOID:9537", source="ORDO:99824/e", source="MONDO:equivalentTo", source="Orphanet:99824", source="NCIT:C128418"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
is_a: MONDO:0044750 ! lassa virus infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:9537
property_value: exactMatch http://identifiers.org/meddra/10023927
property_value: exactMatch http://identifiers.org/mesh/D007835
property_value: exactMatch http://identifiers.org/snomedct/19065005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023092
property_value: exactMatch NCIT:C128418
property_value: exactMatch Orphanet:99824

[Term]
id: MONDO:0005821
name: late congenital syphilis
synonym: "juvenile neurosyphilis" RELATED [DOID:10039]
synonym: "juvenile syphilis" RELATED []
synonym: "late congenital syphilis" EXACT []
synonym: "late congenital syphilis (2 years or more)" EXACT []
synonym: "late congenital syphilis, symptomatic (2 years or more)" RELATED []
xref: DOID:10039 {source="EFO:0007339", source="MONDO:equivalentTo"}
xref: EFO:0007339 {source="MONDO:equivalentTo"}
xref: ICD10:A50.4 {source="DOID:10039"}
xref: ICD10:A50.40 {source="DOID:10039"}
xref: ICD10:A50.5 {source="DOID:10039"}
xref: ICD10:A50.59 {source="DOID:10039"}
xref: ICD9:090.4 {source="DOID:10039"}
xref: ICD9:090.40 {source="DOID:10039"}
xref: ICD9:090.5 {source="DOID:10039", source="MONDO:relatedTo", source="i2s", source="linkedlifedata"}
xref: ICD9:090.7 {source="MONDO:equivalentTo", source="i2s", source="linkedlifedata"}
xref: SCTID:82323002 {source="DOID:10039", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.19"}
is_a: MONDO:0005714 {source="DOID:10039", source="EFO:0007339", source="MONDOLEX:0005821", source="linkedlifedata"} ! congenital syphilis
property_value: closeMatch http://identifiers.org/mesh/D009494
property_value: closeMatch http://identifiers.org/snomedct/186836008
property_value: closeMatch http://identifiers.org/snomedct/186837004
property_value: closeMatch http://identifiers.org/snomedct/186839001
property_value: closeMatch http://identifiers.org/snomedct/187350002
property_value: closeMatch http://identifiers.org/snomedct/4243004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153132
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153136
property_value: exactMatch DOID:10039
property_value: exactMatch http://identifiers.org/snomedct/82323002

[Term]
id: MONDO:0005822
name: latent syphilis
def: "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." [NCIT:P378]
xref: COHD:40485064 {source="MONDO:equivalentTo"}
xref: DOID:9531 {source="MONDO:equivalentTo", source="EFO:0007340"}
xref: EFO:0007340 {source="MONDO:equivalentTo"}
xref: ICD10:A53.0 {source="DOID:9531"}
xref: ICD9:097.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9531"}
xref: MESH:D013592 {source="MONDO:equivalentTo", source="EFO:0007340", source="MONDO:ontobio", source="DOID:9531"}
xref: NCIT:C35056 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9531"}
xref: SCTID:444150000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9531"}
xref: UMLS:C0039133 {source="NCIT:C35056", source="MONDO:equivalentTo", source="DOID:9531"}
is_a: MONDO:0005976 {source="DOID:9531", source="EFO:0007340", source="MESH:D013592", source="NCIT:C35056", source="linkedlifedata"} ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/186906003
property_value: exactMatch DOID:9531
property_value: exactMatch http://identifiers.org/mesh/D013592
property_value: exactMatch http://identifiers.org/snomedct/444150000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039133
property_value: exactMatch NCIT:C35056

[Term]
id: MONDO:0005823
name: legionellosis
def: "Any disease caused by Legionella bacteria." [NCIT:C128334]
subset: ordo_disease {source="Orphanet:549"}
synonym: "Legionella infection" EXACT [DOID:10458]
synonym: "Legionnaires disease" EXACT [Orphanet:549]
xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"}
xref: EFO:0007342 {source="MONDO:equivalentTo"}
xref: ICD10:A48.1 {source="ORDO:549/e", source="Orphanet:549"}
xref: MedDRA:10035718 {source="ORDO:549/e", source="Orphanet:549"}
xref: MedDRA:10061266 {source="ORDO:549/e", source="Orphanet:549"}
xref: MESH:D007876 {source="DOID:10458", source="ORDO:549/e", source="MONDO:equivalentTo", source="Orphanet:549", source="EFO:0007342"}
xref: NCIT:C128334 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.09"}
xref: Orphanet:549 {source="MONDO:equivalentTo"}
xref: SCTID:26726000 {source="DOID:10458", source="MONDO:kboom-pr-0.96/0.75/2.18", source="MONDO:equivalentTo"}
xref: UMLS:C0023240 {source="DOID:10458", source="ORDO:549/e", source="NCIT:C128334", source="MONDO:equivalentTo", source="Orphanet:549"}
xref: UMLS:CN205282 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000314 {source="DOID:10458"} ! primary bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:10458
property_value: exactMatch http://identifiers.org/meddra/10035718
property_value: exactMatch http://identifiers.org/meddra/10061266
property_value: exactMatch http://identifiers.org/mesh/D007876
property_value: exactMatch http://identifiers.org/snomedct/26726000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205282
property_value: exactMatch NCIT:C128334
property_value: exactMatch Orphanet:549

[Term]
id: MONDO:0005824
name: Legionnaires' disease
def: "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." [NCIT:C128339]
synonym: "infection by Legionella pneumophilia" EXACT [DOID:10457]
synonym: "Legionella" EXACT [DOID:10457]
synonym: "Legionella pneumonia" EXACT [NCIT:C128339]
synonym: "legionnaire's disease" EXACT [DOID:10457]
xref: DOID:10457 {source="MONDO:equivalentTo", source="EFO:0007343"}
xref: EFO:0007343 {source="MONDO:equivalentTo"}
xref: ICD10:A48.1 {source="DOID:10457"}
xref: ICD9:482.84 {source="DOID:10457", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007877 {source="DOID:10457", source="MONDO:equivalentTo", source="EFO:0007343"}
xref: NCIT:C128339 {source="MONDO:equivalentTo"}
xref: SCTID:195889001 {source="MONDO:kboom-pr-0.96/0.76/2.18", source="DOID:10457", source="MONDO:equivalentTo"}
is_a: MONDO:0004652 {source="NCIT:C128339", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial pneumonia
is_a: MONDO:0005823 {source="DOID:10457", source="MESH:D007877", source="linkedlifedata"} ! legionellosis
property_value: closeMatch http://identifiers.org/snomedct/154315008
property_value: closeMatch http://identifiers.org/snomedct/266186009
property_value: closeMatch http://identifiers.org/snomedct/269574000
property_value: closeMatch http://identifiers.org/snomedct/312403005
property_value: closeMatch http://identifiers.org/snomedct/74881002
property_value: exactMatch DOID:10457
property_value: exactMatch http://identifiers.org/mesh/D007877
property_value: exactMatch http://identifiers.org/snomedct/195889001
property_value: exactMatch NCIT:C128339

[Term]
id: MONDO:0005825
name: leptospirosis
def: "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." [NCIT:P378]
subset: gard_rare {source="GARD:0007881"}
subset: ordo_disease {source="Orphanet:509"}
synonym: "cane cutter's fever" RELATED []
synonym: "cane-cutter fever" RELATED [GARD:0007881]
synonym: "canicola fever" RELATED [GARD:0007881]
synonym: "fort Bragg fever" EXACT [DOID:2297]
synonym: "harvest fever" RELATED []
synonym: "hemorrhagic jaundice" RELATED [GARD:0007881]
synonym: "Icterohemorrhagic fever" RELATED [GARD:0007881]
synonym: "infection due to Leptospira" RELATED []
synonym: "japanese autumnal fever" RELATED []
synonym: "Leptospira caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Leptospira disease or disorder" EXACT []
synonym: "Leptospira infectious disease" EXACT []
synonym: "leptospirosis" EXACT []
synonym: "leptospirosis icterohaemorrhagica" EXACT [DOID:2297]
synonym: "mud fever" RELATED [GARD:0007881]
synonym: "nanukayami fever" EXACT [DOID:2297]
synonym: "Queensland fever" RELATED []
synonym: "rat catcher's yellows" EXACT [DOID:2297]
synonym: "rice-field fever" RELATED [GARD:0007881]
synonym: "rice-field worker's disease" RELATED []
synonym: "seven day fever" RELATED []
synonym: "spirochetal jaundice" EXACT [CSP2005:0368-3335, DOID:2297]
synonym: "Stuttgart disease" RELATED [GARD:0007881]
synonym: "swamp fever" RELATED [GARD:0007881]
synonym: "swineherd's disease" RELATED [GARD:0007881]
synonym: "Weil disease" RELATED [GARD:0007881]
synonym: "Weil's disease" EXACT EXCLUDE [DOID:2297]
xref: COHD:432246 {source="MONDO:equivalentTo"}
xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"}
xref: EFO:0007344 {source="MONDO:equivalentTo"}
xref: GARD:0007881 {source="MONDO:equivalentTo"}
xref: ICD10:A27 {source="DOID:2297", source="MONDO:equivalentTo"}
xref: ICD10:A27.0 {source="DOID:2297", source="ORDO:509/btnt", source="Orphanet:509"}
xref: ICD10:A27.8 {source="ORDO:509/btnt", source="Orphanet:509"}
xref: ICD10:A27.9 {source="DOID:2297", source="ORDO:509/btnt", source="Orphanet:509"}
xref: ICD9:100 {source="DOID:2297"}
xref: ICD9:100.0 {source="DOID:2297"}
xref: ICD9:100.89 {source="linkedlifedata"}
xref: ICD9:100.9 {source="DOID:2297", source="linkedlifedata"}
xref: MedDRA:10024238 {source="ORDO:509/e", source="Orphanet:509"}
xref: MESH:D007922 {source="DOID:2297", source="MONDO:equivalentTo", source="ORDO:509/e", source="Orphanet:509", source="EFO:0007344"}
xref: NCIT:C84825 {source="DOID:2297", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:509 {source="MONDO:equivalentTo"}
xref: SCTID:77377001 {source="DOID:2297", source="MONDO:equivalentTo"}
xref: UMLS:C0023364 {source="DOID:2297", source="NCIT:C84825", source="MONDO:equivalentTo", source="ORDO:509/e", source="Orphanet:509"}
is_a: MONDO:0000314 {source="DOID:2297"} ! primary bacterial infectious disease
is_a: MONDO:0021839 ! spirochaetales infections
property_value: closeMatch http://identifiers.org/snomedct/154391003
property_value: closeMatch http://identifiers.org/snomedct/186953000
property_value: closeMatch http://identifiers.org/snomedct/186954006
property_value: closeMatch http://identifiers.org/snomedct/186958009
property_value: closeMatch http://identifiers.org/snomedct/186959001
property_value: closeMatch http://identifiers.org/snomedct/187311001
property_value: closeMatch http://identifiers.org/snomedct/266213004
property_value: closeMatch http://identifiers.org/snomedct/398222003
property_value: closeMatch http://identifiers.org/snomedct/50574007
property_value: closeMatch http://identifiers.org/snomedct/69092001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043102
property_value: exactMatch DOID:2297
property_value: exactMatch http://identifiers.org/meddra/10024238
property_value: exactMatch http://identifiers.org/mesh/D007922
property_value: exactMatch http://identifiers.org/snomedct/77377001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023364
property_value: exactMatch NCIT:C84825
property_value: exactMatch Orphanet:509
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7881/leptospirosis xsd:anyURI {source="GARD:0007881"}

[Term]
id: MONDO:0005826
name: lipid pneumonia
def: "Pneumonia due to aspiration or inhalation of various oily or fatty substances." [MESH:D011017]
synonym: "exogenous lipoid pneumonia" EXACT [DOID:3241, MTHICD9_2006:507.1]
synonym: "lipoid pneumonitis" EXACT [DOID:3241]
synonym: "pneumonia lipid" RELATED [GARD:0006394]
xref: DOID:3241 {source="EFO:0007345", source="MONDO:equivalentTo"}
xref: EFO:0007345 {source="MONDO:equivalentTo"}
xref: GARD:0006394 {source="MONDO:equivalentTo"}
xref: ICD10:J69.1 {source="DOID:3241"}
xref: MESH:D011017 {source="EFO:0007345", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3241"}
xref: SCTID:707449006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.68/0.11", source="DOID:3241"}
xref: UMLS:C0032298 {source="MONDO:equivalentTo", source="DOID:3241"}
is_a: MONDO:0002572 {source="DOID:3241"} ! aspiration pneumonitis
property_value: closeMatch http://identifiers.org/snomedct/196038008
property_value: closeMatch http://identifiers.org/snomedct/37629004
property_value: closeMatch http://identifiers.org/snomedct/416916004
property_value: exactMatch DOID:3241
property_value: exactMatch http://identifiers.org/mesh/D011017
property_value: exactMatch http://identifiers.org/snomedct/707449006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032298

[Term]
id: MONDO:0005827
name: lipoatrophic diabetes
def: "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." [NCIT:P378]
comment: Editor note: consider merging
synonym: "Diabete, lipoatrophic" RELATED [MESH:D003923]
synonym: "diabetes, lipoatrophic" RELATED [MESH:D003923]
synonym: "lipoatrophic Diabete" RELATED [MESH:D003923]
synonym: "lipoatrophic diabetes" EXACT [MESH:D003923]
synonym: "lipoatrophic diabetes mellitus" RELATED [MESH:D003923]
xref: DOID:11712 {source="EFO:0007346", source="MONDO:equivalentTo"}
xref: EFO:0007346 {source="MONDO:equivalentTo"}
xref: MESH:D003923 {source="EFO:0007346", source="DOID:11712", source="MONDO:equivalentTo"}
xref: NCIT:C34537 {source="DOID:11712", source="MONDO:equivalentTo"}
is_a: MONDO:0005148 {source="DOID:11712", source="EFO:0007346", source="MESH:D003923"} ! type 2 diabetes mellitus
property_value: closeMatch http://identifiers.org/snomedct/408543001
property_value: exactMatch DOID:11712
property_value: exactMatch http://identifiers.org/mesh/D003923
property_value: exactMatch NCIT:C34537

[Term]
id: MONDO:0005828
name: listeriosis
def: "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." [NCIT:P378]
subset: ordo_disease {source="Orphanet:533"}
synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573, MTHICD9_2006:027.0]
synonym: "Listeria infection" EXACT [CSP2005:0368-3200, DOID:11573]
synonym: "Listeria monocytogenes caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Listeria monocytogenes disease or disorder" EXACT []
synonym: "Listeria monocytogenes infection" RELATED [GARD:0006915]
synonym: "Listeria monocytogenes infectious disease" EXACT []
xref: COHD:438059 {source="MONDO:equivalentTo"}
xref: DOID:11573 {source="EFO:0007347", source="MONDO:equivalentTo"}
xref: EFO:0007347 {source="MONDO:equivalentTo"}
xref: GARD:0006915 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A32 {source="MONDO:equivalentTo", source="DOID:11573"}
xref: ICD10:A32.0 {source="Orphanet:533", source="ORDO:533/btnt"}
xref: ICD10:A32.1 {source="Orphanet:533", source="ORDO:533/btnt"}
xref: ICD10:A32.7 {source="Orphanet:533", source="ORDO:533/btnt"}
xref: ICD10:A32.8 {source="Orphanet:533", source="ORDO:533/btnt"}
xref: ICD10:A32.9 {source="Orphanet:533", source="ORDO:533/btnt", source="DOID:11573"}
xref: ICD9:027.0 {source="DOID:11573"}
xref: MedDRA:10024641 {source="Orphanet:533", source="ORDO:533/e"}
xref: MESH:D008088 {source="Orphanet:533", source="EFO:0007347", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11573", source="ORDO:533/e"}
xref: NCIT:C82994 {source="MONDO:equivalentTo", source="DOID:11573", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:533 {source="MONDO:equivalentTo"}
xref: UMLS:C0023860 {source="Orphanet:533", source="NCIT:C82994", source="MONDO:equivalentTo", source="DOID:11573", source="ORDO:533/e"}
is_a: MONDO:0000314 {source="DOID:11573"} ! primary bacterial infectious disease
is_a: MONDO:0100120 ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186315001
property_value: closeMatch http://identifiers.org/snomedct/186320001
property_value: closeMatch http://identifiers.org/snomedct/187320005
property_value: closeMatch http://identifiers.org/snomedct/406591006
property_value: closeMatch http://identifiers.org/snomedct/4241002
property_value: exactMatch DOID:11573
property_value: exactMatch http://identifiers.org/meddra/10024641
property_value: exactMatch http://identifiers.org/mesh/D008088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023860
property_value: exactMatch NCIT:C82994
property_value: exactMatch Orphanet:533

[Term]
id: MONDO:0005829
name: louping ill
def: "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." [MESH:D008146]
synonym: "Louping ill" EXACT [DOID:10250, ICD9CM_2006:063.1]
xref: DOID:10250 {source="EFO:0007348", source="MONDO:equivalentTo"}
xref: EFO:0007348 {source="MONDO:equivalentTo"}
xref: ICD10:A84.8 {source="DOID:10250"}
xref: ICD9:063.1 {source="DOID:10250"}
xref: MESH:D008146 {source="EFO:0007348", source="MONDO:equivalentTo", source="DOID:10250", source="MONDO:ontobio"}
xref: UMLS:C0024025 {source="MONDO:equivalentTo", source="DOID:10250"}
is_a: MONDO:0005583 {source="EFO:0007348", source="MESH:D008146/inferred"} ! non-human animal disease
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: closeMatch http://identifiers.org/snomedct/59350003
property_value: exactMatch DOID:10250
property_value: exactMatch http://identifiers.org/mesh/D008146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024025

[Term]
id: MONDO:0005830
name: lumpy skin disease
def: "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." [MESH:D008166]
xref: EFO:0007349 {source="MONDO:equivalentTo"}
xref: MESH:D008166 {source="EFO:0007349", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0024106 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007349", source="MESH:D008166/inferred"} ! viral infectious disease
property_value: closeMatch DOID:3293
property_value: exactMatch http://identifiers.org/mesh/D008166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024106

[Term]
id: MONDO:0005831
name: lymph node tuberculosis
def: "Tuberculosis of the lymph node." [NCIT:P378]
synonym: "king's evil" EXACT [DOID:4889]
synonym: "lymph node tuberculosis" EXACT [DOID:4889, MONDO:patterns/location, NCIT:C26896]
synonym: "scrofula" EXACT [DOID:4889]
synonym: "tuberculous adenitis" EXACT [DOID:4889, MTHICD9_2006:017.2]
synonym: "tuberculous lymphadenopathy" EXACT [DOID:4889]
xref: DOID:4889 {source="MONDO:equivalentTo", source="EFO:0007350"}
xref: EFO:0007350 {source="MONDO:equivalentTo"}
xref: ICD10:A18.2 {source="DOID:4889"}
xref: MESH:D014388 {source="MONDO:equivalentTo", source="DOID:4889", source="EFO:0007350"}
xref: NCIT:C26896 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4889"}
xref: SCTID:10893003 {source="MONDO:equivalentTo", source="DOID:4889", source="MONDO:kboom-pr-0.94/0.75/1.57"}
is_a: MONDO:0000368 {source="DOID:4889"} ! extrapulmonary tuberculosis
is_a: MONDO:0004928 {source="DOID:4889", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node disease
property_value: closeMatch http://identifiers.org/mesh/D018601
property_value: closeMatch http://identifiers.org/snomedct/186260002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041316
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242830
property_value: exactMatch DOID:4889
property_value: exactMatch http://identifiers.org/mesh/D014388
property_value: exactMatch http://identifiers.org/snomedct/10893003
property_value: exactMatch NCIT:C26896

[Term]
id: MONDO:0005832
name: lymphangitis
def: "Inflammation of the lymphatic vessels." [NCIT:P378]
synonym: "inflammation of lymphatic vessel" EXACT []
synonym: "lymphatic vessel inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:439840 {source="MONDO:equivalentTo"}
xref: DOID:9317 {source="MONDO:equivalentTo", source="EFO:0007351"}
xref: EFO:0007351 {source="MONDO:equivalentTo"}
xref: ICD10:I89.1 {source="DOID:9317", source="MONDO:equivalentTo"}
xref: ICD9:457.2 {source="DOID:9317", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008205 {source="DOID:9317", source="MONDO:equivalentTo", source="EFO:0007351", source="MONDO:ontobio"}
xref: NCIT:C34790 {source="DOID:9317", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:1415005 {source="DOID:9317", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0024225 {source="DOID:9317", source="NCIT:C34790", source="MONDO:equivalentTo"}
is_a: MONDO:0005833 {source="DOID:9317", source="MESH:D008205", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! lymphatic system disease
is_a: MONDO:0018882 ! vasculitis
property_value: closeMatch http://identifiers.org/snomedct/266335009
property_value: exactMatch DOID:9317
property_value: exactMatch http://identifiers.org/mesh/D008205
property_value: exactMatch http://identifiers.org/snomedct/1415005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024225
property_value: exactMatch NCIT:C34790

[Term]
id: MONDO:0005833
name: lymphatic system disease
def: "A disease involving the lymphatic part of lymphoid system." [MONDO:DesignPattern]
comment: Editor note: check alignment to anatomy, consider lymphoid system disease
synonym: "adenopathy" RELATED [DOID:75]
synonym: "disease of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disease of lympoid system" RELATED [DOID:75]
synonym: "disease or disorder of lymphatic part of lymphoid system" EXACT []
synonym: "disorder of lymph node and lymphatics" EXACT [DOID:75]
synonym: "disorder of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lymphatic part of lymphoid system" RELATED [MONDO:patterns/location_top]
synonym: "disorder of lymphatic system" EXACT [DOID:75]
synonym: "disorder of lymphoid system" RELATED [DOID:75]
synonym: "glands, swollen" EXACT [NCIT:C50764]
synonym: "lymphadenopathy" NARROW [NCIT:C50764]
synonym: "lymphangiopathy" NARROW [DOID:75]
synonym: "lymphangiopathy, NOS" RELATED EXCLUDE [DOID:75]
synonym: "lymphatic disease" EXACT [DOID:75, MTH:461, MTH:NOCODE]
synonym: "lymphatic disorder" EXACT [CSP2005:0427-7757, DOID:75, NCIT:C3206]
synonym: "lymphatic part of lymphoid system disease" EXACT [MONDO:patterns/location]
synonym: "lymphatic part of lymphoid system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lympoid system disease" RELATED [DOID:75]
synonym: "swollen gland" EXACT [NCIT:C50764]
synonym: "swollen glands" EXACT [NCIT:C50764]
xref: DOID:75 {source="MONDO:equivalentTo"}
xref: EFO:0007352 {source="MONDO:equivalentTo"}
xref: MESH:D008206 {source="DOID:75", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50764 {source="MONDO:equivalentTo"}
xref: SCTID:362971004 {source="DOID:75", source="MONDO:equivalentTo"}
xref: UMLS:C0024228 {source="DOID:75", source="MONDO:equivalentTo"}
is_a: MONDO:0044986 ! lymphoid system disease
property_value: closeMatch http://identifiers.org/mesh/NoID
property_value: closeMatch http://identifiers.org/snomedct/155452000
property_value: closeMatch http://identifiers.org/snomedct/234087005
property_value: closeMatch http://identifiers.org/snomedct/266326002
property_value: closeMatch http://identifiers.org/snomedct/3305006
property_value: exactMatch DOID:75
property_value: exactMatch http://identifiers.org/mesh/D008206
property_value: exactMatch http://identifiers.org/snomedct/362971004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024228
property_value: exactMatch NCIT:C50764

[Term]
id: MONDO:0005834
name: lymphogranuloma venereum
def: "Infection with the organism Mycobacterium." [NCIT:P378]
subset: gard_rare {source="GARD:0009545"}
synonym: "climatic or tropical bubo" EXACT [DOID:13819, MTHICD9_2006:099.1]
synonym: "Durand-Nicolas-Favre disease" EXACT [DOID:13819]
synonym: "LGV" RELATED [GARD:0009545]
synonym: "lymph granuloma inguinale" EXACT [MONDO:patterns/location]
synonym: "lymphogranuloma inguinale" EXACT [DOID:13819]
synonym: "Poradenitis inguinale" EXACT [DOID:13819]
synonym: "strumous bubo" EXACT [DOID:13819]
xref: COHD:194287 {source="MONDO:equivalentTo"}
xref: DOID:13819 {source="MONDO:equivalentTo", source="EFO:0007353"}
xref: EFO:0007353 {source="MONDO:equivalentTo"}
xref: GARD:0009545 {source="MONDO:equivalentTo"}
xref: ICD10:A55 {source="DOID:13819"}
xref: ICD9:099.1 {source="MONDO:equivalentTo", source="DOID:13819", source="i2s"}
xref: MESH:D008219 {source="MONDO:equivalentTo", source="DOID:13819", source="MONDO:ontobio", source="EFO:0007353"}
xref: NCIT:C26822 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13819"}
xref: SCTID:186946009 {source="MONDO:equivalentTo", source="DOID:13819", source="MONDO:kboom-pr-1.00/0.79/8.07"}
xref: UMLS:C0024286 {source="MONDO:equivalentTo", source="DOID:13819", source="NCIT:C26822"}
is_a: MONDO:0005701 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! chlamydia trachomatis infectious disease
is_a: MONDO:0005777 {source="DOID:13819", source="MONDO:Entailed", source="MONDO:Redundant"} ! granuloma inguinale
is_a: MONDO:0005833 ! lymphatic system disease
property_value: closeMatch http://identifiers.org/snomedct/154391003
property_value: closeMatch http://identifiers.org/snomedct/266213004
property_value: closeMatch http://identifiers.org/snomedct/89427004
property_value: exactMatch DOID:13819
property_value: exactMatch http://identifiers.org/mesh/D008219
property_value: exactMatch http://identifiers.org/snomedct/186946009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024286
property_value: exactMatch NCIT:C26822
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum xsd:anyURI {source="GARD:0009545"}

[Term]
id: MONDO:0005835
name: Lynch syndrome
def: "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." [NCIT:P378]
comment: Editor note: check relationship to HNPPC
subset: clingen
subset: ordo_disease {source="Orphanet:144"}
synonym: "coca 1" EXACT EXCLUDE [DOID:3883]
synonym: "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "Hereditary colorectal endometrial cancer syndrome" EXACT [NCIT:C8494]
synonym: "hereditary defective mismatch repair syndrome" EXACT [DOID:3883, NCIT:C8494]
synonym: "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "hereditary non-polyposis colon cancer type 1" EXACT [DOID:3883]
synonym: "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "hereditary nonpolyposis colorectal cancer" BROAD [DOID:3883]
synonym: "hereditary nonpolyposis colorectal neoplasm" BROAD [DOID:3883]
synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883]
xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"}
xref: EFO:0007354 {source="MONDO:equivalentTo"}
xref: ICD10:D48.9 {source="ORDO:144/attributed", source="ORDO:144/ntbt", source="Orphanet:144"}
xref: MedDRA:10051981 {source="ORDO:144/e", source="Orphanet:144"}
xref: NCIT:C8494 {source="DOID:3883", source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="DOID:3883", source="MONDO:equivalentTo"}
xref: SCTID:716318002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.09"}
is_a: MONDO:0000426 {source="DOID:3883", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0018630 {source="NCIT:C8494", source="Orphanet:144"} ! hereditary nonpolyposis colon cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009405
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112155
property_value: exactMatch DOID:3883
property_value: exactMatch http://identifiers.org/meddra/10051981
property_value: exactMatch http://identifiers.org/mesh/D003123
property_value: exactMatch http://identifiers.org/snomedct/716318002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333990
property_value: exactMatch NCIT:C8494
property_value: exactMatch Orphanet:144

[Term]
id: MONDO:0005836
name: male reproductive organ cancer
def: "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C8561]
synonym: "cancer of male reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "male genital cancer" EXACT [DOID:3856]
synonym: "male genital neoplasm" BROAD [DOID:3856]
synonym: "Male reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C8561]
synonym: "male reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "Male reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C8561]
synonym: "male reproductive system neoplasm" BROAD [CSP2005:2016-2462, DOID:3856]
synonym: "malignant male reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Male reproductive system neoplasm" EXACT [NCIT:C8561]
synonym: "malignant Male reproductive system tumor" EXACT [NCIT:C8561]
synonym: "malignant neoplasm of male genital organ" EXACT [DOID:3856]
synonym: "malignant neoplasm of male genital organ or tract" EXACT [DOID:3856]
synonym: "malignant neoplasm of male genital organ, NOS" RELATED EXCLUDE [DOID:3856]
synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [DOID:3856, ICD9CM_2006:187.9]
synonym: "malignant neoplasm of male genital organs" EXACT [DOID:3856]
synonym: "malignant neoplasm of male reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant neoplasm of the Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant tumor of male genital organ" EXACT [DOID:3856, MTH:U001031]
synonym: "malignant tumor of Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant tumor of male reproductive system" EXACT [DOID:3856, NCIT:C8561]
synonym: "malignant tumor of the Male reproductive system" EXACT [NCIT:C8561]
synonym: "neoplasm of male genital organ" BROAD [DOID:3856]
synonym: "tumor of male reproductive system" BROAD [DOID:3856, NCIT:C3054]
xref: DOID:3856 {source="MONDO:equivalentTo", source="EFO:0007355"}
xref: EFO:0007355 {source="MONDO:equivalentTo"}
xref: ICD10:C60-C63 {source="DOID:3856"}
xref: ICD10:C63.9 {source="DOID:3856"}
xref: ICD9:187.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:187.9 {source="MONDO:equivalentTo", source="DOID:3856", source="i2s"}
xref: MESH:D005834 {source="MONDO:equivalentTo", source="DOID:3856", source="MONDO:ontobio", source="EFO:0007355"}
xref: NCIT:C8561 {source="MONDO:equivalentTo", source="DOID:3856"}
xref: SCTID:363515000 {source="MONDO:equivalentTo", source="DOID:3856", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0002149 {source="DOID:3856", source="MONDO:Redundant", source="MONDOLEX:0005836", source="NCIT:C8561"} ! reproductive system cancer
is_a: MONDO:0024582 {source="MONDO:Redundant", source="MONDOLEX:0005836", source="NCIT:C8561", source="linkedlifedata"} ! male reproductive system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/190127000
property_value: closeMatch http://identifiers.org/snomedct/190130007
property_value: closeMatch http://identifiers.org/snomedct/93885006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017417
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153606
property_value: exactMatch DOID:3856
property_value: exactMatch http://identifiers.org/mesh/D005834
property_value: exactMatch http://identifiers.org/snomedct/363515000
property_value: exactMatch NCIT:C8561

[Term]
id: MONDO:0005837
name: mandibular cancer
def: "A malignant neoplasm involving the mandible" [MONDO:DesignPattern]
synonym: "cancer of mandible" EXACT [MONDO:patterns/cancer]
synonym: "malignant mandible neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of inferior maxilla" EXACT [DOID:2338, MTHICD9_2006:170.1]
synonym: "malignant neoplasm of lower jaw bone" EXACT [DOID:2338, NCIT:C35178]
synonym: "malignant neoplasm of mandible" EXACT [DOID:2338, MONDO:patterns/cancer]
synonym: "mandible cancer" EXACT [DOID:2338, MONDO:patterns/location]
synonym: "mandibular neoplasm" BROAD [DOID:2338]
synonym: "neoplasm of mandible" BROAD [DOID:2338]
xref: COHD:40490993 {source="MONDO:equivalentTo"}
xref: DOID:2338 {source="EFO:0007356", source="MONDO:equivalentTo"}
xref: EFO:0007356 {source="MONDO:equivalentTo"}
xref: ICD10:C41.1 {source="DOID:2338"}
xref: ICD9:170.1 {source="MONDO:equivalentTo", source="DOID:2338", source="i2s"}
xref: MESH:D008339 {source="EFO:0007356", source="MONDO:equivalentTo", source="DOID:2338", source="MONDO:ontobio"}
xref: NCIT:C35178 {source="MONDO:equivalentTo", source="DOID:2338", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:448668007 {source="MONDO:equivalentTo", source="DOID:2338"}
is_a: MONDO:0002131 {source="DOID:2338", source="MESH:D008339", source="MONDO:Entailed", source="MONDO:Redundant"} ! jaw cancer
property_value: closeMatch http://identifiers.org/snomedct/126551000
property_value: closeMatch http://identifiers.org/snomedct/187915001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024694
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153511
property_value: exactMatch DOID:2338
property_value: exactMatch http://identifiers.org/mesh/D008339
property_value: exactMatch http://identifiers.org/snomedct/448668007
property_value: exactMatch NCIT:C35178

[Term]
id: MONDO:0005838
name: mansonelliasis
def: "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." [NCIT:P378]
subset: gard_rare {source="GARD:0008216"}
subset: ordo_disease {source="Orphanet:2459"}
synonym: "Mansonella perstans infections" RELATED [GARD:0008216]
synonym: "Mansonellosis" EXACT [Orphanet:2459]
xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"}
xref: EFO:0007357 {source="MONDO:equivalentTo"}
xref: GARD:0008216 {source="MONDO:equivalentTo"}
xref: ICD10:B74.4 {source="MONDO:equivalentTo", source="ORDO:2459/e", source="Orphanet:2459", source="DOID:1081"}
xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081", source="MONDO:ontobio"}
xref: NCIT:C84882 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1081"}
xref: Orphanet:2459 {source="MONDO:equivalentTo"}
xref: SCTID:240849009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1081"}
xref: UMLS:C0024759 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="NCIT:C84882"}
is_a: MONDO:0016075 {source="DOID:1081", source="ICD10:B74.4", source="MESH:D008368", source="Orphanet:2459"} ! filariasis
property_value: exactMatch DOID:1081
property_value: exactMatch http://identifiers.org/mesh/D008368
property_value: exactMatch http://identifiers.org/snomedct/240849009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024759
property_value: exactMatch NCIT:C84882
property_value: exactMatch Orphanet:2459
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis xsd:anyURI {source="GARD:0008216"}

[Term]
id: MONDO:0005839
name: obsolete Marburg hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0020500

[Term]
id: MONDO:0005840
name: obsolete mast-cell leukemia
is_obsolete: true
replaced_by: MONDO:0020334

[Term]
id: MONDO:0005841
name: maxillary neoplasm
def: "Cancer or tumors of the maxilla or upper jaw." [MESH:D008441]
synonym: "bone of upper jaw neoplasm" EXACT []
synonym: "bone of upper jaw neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bone of upper jaw tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "maxillary cancer" RELATED [DOID:4618]
synonym: "maxillary neoplasm" EXACT [DOID:4618]
synonym: "neoplasm of bone of upper jaw" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bone of upper jaw" EXACT [MONDO:patterns/neoplasm]
synonym: "upper jaw bone cancer" RELATED [DOID:4618]
xref: DOID:4618 {source="MONDO:equivalentTo", source="EFO:0007360"}
xref: EFO:0007360 {source="MONDO:equivalentTo"}
xref: MESH:D008441 {source="MONDO:equivalentTo", source="EFO:0007360", source="MONDO:ontobio", source="DOID:4618"}
xref: SCTID:126550004 {source="MONDO:equivalentTo", source="DOID:4618"}
xref: UMLS:C0024954 {source="MONDO:equivalentTo", source="DOID:4618"}
is_a: MONDO:0021580 ! neoplasm of jaw
property_value: exactMatch DOID:4618
property_value: exactMatch http://identifiers.org/mesh/D008441
property_value: exactMatch http://identifiers.org/snomedct/126550004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024954

[Term]
id: MONDO:0005842
name: maxillary sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." [NCIT:P378]
xref: DOID:2051 {source="MONDO:equivalentTo", source="EFO:0007361"}
xref: EFO:0007361 {source="MONDO:equivalentTo"}
xref: ICD10:J32.0 {source="MONDO:superClassOf", source="DOID:2051"}
xref: MESH:D015523 {source="MONDO:equivalentTo", source="EFO:0007361", source="MONDO:ontobio", source="DOID:2051"}
xref: NCIT:C34809 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2051"}
xref: SCTID:88348008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2051"}
xref: UMLS:C0024959 {source="MONDO:equivalentTo", source="NCIT:C34809", source="DOID:2051"}
is_a: MONDO:0005961 {source="DOID:2051", source="EFO:0007361", source="MESH:D015523", source="MONDO:Redundant", source="NCIT:C34809", source="linkedlifedata"} ! sinusitis
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: closeMatch http://identifiers.org/snomedct/275484005
property_value: exactMatch DOID:2051
property_value: exactMatch http://identifiers.org/mesh/D015523
property_value: exactMatch http://identifiers.org/snomedct/88348008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024959
property_value: exactMatch NCIT:C34809

[Term]
id: MONDO:0005843
name: mediastinal cancer
def: "A malignant neoplasm involving the mediastinum" [MONDO:DesignPattern]
synonym: "cancer of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549]
synonym: "cancer of the mediastinum" EXACT [NCIT:C3549]
synonym: "malignant mediastinal neoplasm" EXACT [NCIT:C3549]
synonym: "malignant mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3549]
synonym: "malignant mediastinal tumor" EXACT [NCIT:C3549]
synonym: "malignant mediastinum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549]
synonym: "malignant neoplasm of the mediastinum" EXACT [NCIT:C3549]
synonym: "malignant tumor of mediastinum" EXACT [NCIT:C3549]
synonym: "malignant tumor of the mediastinum" EXACT [NCIT:C3549]
synonym: "mediastinal cancer" EXACT [NCIT:C3549]
synonym: "mediastinal tumor" BROAD [DOID:5559, NCIT:C3221]
synonym: "mediastinum cancer" EXACT [DOID:5559, MONDO:patterns/location]
synonym: "neoplasm of mediastinum" EXACT EXCLUDE [DOID:5559]
synonym: "tumour of mediastinum" BROAD [DOID:5559]
xref: DOID:5559 {source="MONDO:equivalentTo", source="EFO:0007362"}
xref: EFO:0007362 {source="MONDO:equivalentTo"}
xref: ICD10:C38.3 {source="DOID:5559"}
xref: ICD9:164.9 {source="DOID:5559", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008479 {source="DOID:5559", source="MONDO:equivalentTo", source="EFO:0007362", source="MONDO:ontobio"}
xref: NCIT:C3549 {source="MONDO:kboom-pr-0.92/0.78/0.82", source="DOID:5559", source="MONDO:equivalentTo"}
xref: SCTID:363494000 {source="DOID:5559", source="MONDO:equivalentTo"}
is_a: MONDO:0003274 {source="DOID:5559", source="MONDO:Redundant", source="NCIT:C3549", source="linkedlifedata"} ! thoracic cancer
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C3549", source="linkedlifedata"} ! neoplasm of mediastinum
property_value: closeMatch http://identifiers.org/snomedct/187889002
property_value: closeMatch http://identifiers.org/snomedct/190097009
property_value: closeMatch http://identifiers.org/snomedct/93891008
property_value: closeMatch http://identifiers.org/snomedct/94147001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025063
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153504
property_value: exactMatch DOID:5559
property_value: exactMatch http://identifiers.org/mesh/D008479
property_value: exactMatch http://identifiers.org/snomedct/363494000
property_value: exactMatch NCIT:C3549

[Term]
id: MONDO:0005844
name: chalazion
def: "An eyelid cyst caused by the blockage of a meibomian gland." [NCIT:C26717]
synonym: "chalazia" RELATED [MESH:D017043]
synonym: "chalazion" EXACT [DOID:9903, ICD9CM_2006:373.2, NCIT:C26717]
synonym: "cyst, Meibomian" RELATED [MESH:D017043]
synonym: "Meibomian cyst" RELATED [MESH:D017043]
synonym: "meibomian gland lipogranuloma" EXACT [DOID:9903]
xref: COHD:381581 {source="MONDO:equivalentTo"}
xref: DOID:9903 {source="MONDO:equivalentTo", source="EFO:0007363"}
xref: EFO:0007363 {source="MONDO:equivalentTo"}
xref: ICD10:H00.1 {source="MONDO:equivalentTo", source="DOID:9903"}
xref: ICD9:373.2 {source="MONDO:equivalentTo", source="DOID:9903", source="i2s"}
xref: MESH:D017043 {source="MONDO:equivalentTo", source="DOID:9903", source="MONDO:ontobio", source="EFO:0007363"}
xref: NCIT:C26717 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9903"}
xref: SCTID:1482004 {source="MONDO:equivalentTo", source="DOID:9903", source="MONDO:kboom-pr-1.00/0.79/7.72"}
xref: UMLS:C0007933 {source="MONDO:equivalentTo", source="DOID:9903", source="NCIT:C26717"}
is_a: MONDO:0004917 ! internal hordeolum
property_value: closeMatch http://identifiers.org/snomedct/155172004
property_value: closeMatch http://identifiers.org/snomedct/155173009
property_value: closeMatch http://identifiers.org/snomedct/267736000
property_value: closeMatch http://identifiers.org/snomedct/397514009
property_value: exactMatch DOID:9903
property_value: exactMatch http://identifiers.org/mesh/D017043
property_value: exactMatch http://identifiers.org/snomedct/1482004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007933
property_value: exactMatch NCIT:C26717

[Term]
id: MONDO:0005845
name: meningoencephalitis
def: "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." [NCIT:P378]
xref: DOID:10554 {source="MONDO:equivalentTo", source="EFO:0007364"}
xref: EFO:0007364 {source="MONDO:equivalentTo"}
xref: ICD10:A69.22 {source="DOID:10554"}
xref: ICD10:G04 {source="DOID:10554"}
xref: MESH:D008590 {source="DOID:10554", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007364"}
xref: NCIT:C34813 {source="DOID:10554", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:7125002 {source="DOID:10554", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0025309 {source="DOID:10554", source="MONDO:equivalentTo", source="NCIT:C34813"}
is_a: MONDO:0019956 {source="MESH:D008590", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! encephalitis
property_value: exactMatch DOID:10554
property_value: exactMatch http://identifiers.org/mesh/D008590
property_value: exactMatch http://identifiers.org/snomedct/7125002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025309
property_value: exactMatch NCIT:C34813

[Term]
id: MONDO:0005846
name: microsporidiosis
def: "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." [NCIT:P378]
subset: gard_rare {source="GARD:0003655"}
subset: ordo_disease {source="Orphanet:2552"}
synonym: "infection by Microspora" EXACT [DOID:4271]
synonym: "infection by Microsporea" EXACT [DOID:4271]
synonym: "infection by Microsporida" EXACT [DOID:4271]
synonym: "Microsporidia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Microsporidia disease or disorder" EXACT []
synonym: "Microsporidia infection" EXACT [NCIT:C84891]
synonym: "Microsporidia infectious disease" EXACT []
synonym: "Microsporidiasis" RELATED [GARD:0003655]
xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"}
xref: EFO:0007366 {source="MONDO:equivalentTo"}
xref: GARD:0003655 {source="MONDO:equivalentTo"}
xref: ICD10:B60.8 {source="Orphanet:2552", source="DOID:4271", source="ORDO:2552/ntbt"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053982 {source="ORDO:2552/e", source="Orphanet:2552"}
xref: MESH:D016881 {source="ORDO:2552/e", source="Orphanet:2552", source="MONDO:equivalentTo", source="DOID:4271", source="MONDO:ontobio", source="EFO:0007366"}
xref: NCIT:C84891 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4271"}
xref: Orphanet:2552 {source="MONDO:equivalentTo"}
xref: SCTID:699676006 {source="MONDO:equivalentTo", source="DOID:4271", source="MONDO:kboom-pr-1.00/0.74/6.16"}
xref: UMLS:C0085407 {source="ORDO:2552/e", source="Orphanet:2552", source="MONDO:equivalentTo", source="DOID:4271", source="NCIT:C84891"}
is_a: MONDO:0002312 {source="DOID:4271"} ! opportunistic mycosis
is_a: MONDO:0005135 {source="Orphanet:2552"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/61842000
property_value: closeMatch http://identifiers.org/snomedct/65883009
property_value: closeMatch http://identifiers.org/snomedct/78142009
property_value: exactMatch DOID:4271
property_value: exactMatch http://identifiers.org/meddra/10053982
property_value: exactMatch http://identifiers.org/mesh/D016881
property_value: exactMatch http://identifiers.org/snomedct/699676006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085407
property_value: exactMatch NCIT:C84891
property_value: exactMatch Orphanet:2552
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis xsd:anyURI {source="GARD:0003655"}

[Term]
id: MONDO:0005847
name: middle lobe syndrome
def: "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)" [MESH:D008878]
xref: DOID:2810 {source="EFO:0007367", source="MONDO:equivalentTo"}
xref: EFO:0007367 {source="MONDO:equivalentTo"}
xref: MESH:D008878 {source="EFO:0007367", source="MONDO:equivalentTo", source="DOID:2810", source="MONDO:ontobio"}
xref: SCTID:28295001 {source="MONDO:equivalentTo", source="DOID:2810", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026069 {source="MONDO:equivalentTo", source="DOID:2810"}
is_a: MONDO:0005275 {source="DOID:2810", source="EFO:0007367", source="MESH:D008878/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: exactMatch DOID:2810
property_value: exactMatch http://identifiers.org/mesh/D008878
property_value: exactMatch http://identifiers.org/snomedct/28295001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026069

[Term]
id: MONDO:0005848
name: miliary tuberculosis
def: "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." [NCIT:P378]
synonym: "acute miliary tuberculosis" EXACT [DOID:9861, ICD9CM_2006:018.0]
synonym: "disseminated tuberculosis" EXACT [DOID:9861]
synonym: "generalized tuberculosis" EXACT [DOID:9861]
synonym: "tuberculosis miliaris disseminata" EXACT [DOID:9861]
xref: COHD:434559 {source="MONDO:equivalentTo"}
xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"}
xref: EFO:0007368 {source="MONDO:equivalentTo"}
xref: ICD10:A19 {source="MONDO:equivalentTo", source="DOID:9861"}
xref: ICD10:A19.9 {source="DOID:9861"}
xref: ICD9:018 {source="DOID:9861"}
xref: ICD9:018.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:018.9 {source="DOID:9861"}
xref: ICD9:018.90 {source="MONDO:equivalentTo", source="i2s", source="DOID:9861"}
xref: MESH:D014391 {source="EFO:0007368", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9861"}
xref: NCIT:C35086 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:9861"}
xref: SCTID:47604008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.61/0.71", source="DOID:9861"}
xref: UMLS:C0041321 {source="NCIT:C35086", source="MONDO:equivalentTo", source="DOID:9861"}
xref: UMLS:C0152915 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000368 {source="DOID:9861"} ! extrapulmonary tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/154291001
property_value: closeMatch http://identifiers.org/snomedct/186280001
property_value: closeMatch http://identifiers.org/snomedct/187295007
property_value: exactMatch DOID:9861
property_value: exactMatch http://identifiers.org/mesh/D014391
property_value: exactMatch http://identifiers.org/snomedct/47604008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152915
property_value: exactMatch NCIT:C35086

[Term]
id: MONDO:0005849
name: milk allergic reaction
def: "Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase." [MESH:D016269]
synonym: "milk allergic reaction" EXACT [DOID:4376]
synonym: "milk allergy" RELATED [DOID:4376]
xref: DOID:4376 {source="EFO:0007369", source="MONDO:equivalentTo"}
xref: EFO:0007369 {source="MONDO:equivalentTo"}
xref: MESH:D016269 {source="DOID:4376", source="EFO:0007369", source="MONDO:equivalentTo"}
xref: UMLS:C0079840 {source="DOID:4376", source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:4376", source="EFO:0007369", source="MESH:D016269"} ! food allergy
property_value: exactMatch DOID:4376
property_value: exactMatch http://identifiers.org/mesh/D016269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079840

[Term]
id: MONDO:0005850
name: milker's nodule
def: "Virus diseases caused by the poxviridae." [MESH:D011213]
synonym: "milker nodule" EXACT [DOID:8729]
synonym: "milkers' node" EXACT [DOID:8729, MTHICD9_2006:051.1]
synonym: "Paravaccinia" EXACT [DOID:8729]
synonym: "Pseudocowpox" RELATED [DOID:8729, ICD9CM_2006:051.1]
xref: DOID:8729 {source="MONDO:equivalentTo", source="EFO:0007370"}
xref: EFO:0007370 {source="MONDO:equivalentTo"}
xref: ICD10:B08.04 {source="DOID:8729"}
xref: ICD9:051.1 {source="MONDO:equivalentTo", source="DOID:8729", source="i2s"}
xref: ICD9:051.9 {source="MONDO:equivalentTo", source="DOID:8729", source="i2s"}
xref: MESH:D011213 {source="MONDO:equivalentTo", source="DOID:8729", source="EFO:0007370"}
xref: SCTID:27240009 {source="MONDO:equivalentTo", source="DOID:8729", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C0026143 {source="MONDO:equivalentTo", source="DOID:8729"}
is_a: MONDO:0005108 {source="DOID:8729", source="EFO:0007370", source="MESH:D011213/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/186507000
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:8729
property_value: exactMatch http://identifiers.org/mesh/D011213
property_value: exactMatch http://identifiers.org/snomedct/27240009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026143

[Term]
id: MONDO:0005851
name: Miller Fisher syndrome
def: "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." [NCIT:P378]
subset: ordo_disease {source="Orphanet:98919"}
synonym: "cranial variant of GBS" EXACT [Orphanet:98919]
synonym: "cranial variant of Guillain-BarrC) syndrome" EXACT [Orphanet:98919]
synonym: "cranial variant of Guillain-Barré syndrome" EXACT [Orphanet:98919]
synonym: "Fisher syndrome" EXACT [MESH:D019846, Orphanet:98919]
synonym: "Fisher's syndrome" EXACT [DOID:12889]
synonym: "Guillain Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846]
synonym: "Guillain-Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846]
synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT [MESH:D019846]
synonym: "Miller-Fisher syndrome" EXACT [MESH:D019846, MONDO:0020350]
synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [DOID:12889]
synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT [MESH:D019846]
synonym: "syndrome, Fisher" EXACT [MESH:D019846]
synonym: "syndrome, Miller Fisher" EXACT [MESH:D019846]
synonym: "syndrome, Miller-Fisher" EXACT [MESH:D019846]
xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"}
xref: EFO:0007371 {source="MONDO:equivalentTo"}
xref: GARD:0003668 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:98919/ntbt", source="DOID:12889", source="Orphanet:98919"}
xref: MedDRA:10049567 {source="ORDO:98919/e", source="Orphanet:98919"}
xref: MESH:D019846 {source="DOID:12889", source="MONDO:equivalentTo", source="EFO:0007371", source="ORDO:98919/e", source="Orphanet:98919"}
xref: NCIT:C116958 {source="DOID:12889", source="MONDO:equivalentTo"}
xref: Orphanet:98919 {source="MONDO:equivalentTo"}
xref: SCTID:1767005 {source="DOID:12889", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0393799 {source="DOID:12889", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:98919/e", source="Orphanet:98919"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0002427 {source="MESH:D019846"} ! cerebellar disease
is_a: MONDO:0016494 {source="Orphanet:98919"} ! regional variant of Guillain-Barre syndrome
property_value: closeMatch http://identifiers.org/snomedct/193175006
property_value: closeMatch http://identifiers.org/snomedct/230548007
property_value: exactMatch DOID:12889
property_value: exactMatch http://identifiers.org/meddra/10049567
property_value: exactMatch http://identifiers.org/mesh/D019846
property_value: exactMatch http://identifiers.org/snomedct/1767005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393799
property_value: exactMatch NCIT:C116958
property_value: exactMatch Orphanet:98919

[Term]
id: MONDO:0005852
name: mitral valve stenosis
def: "Narrowing of the left atrioventricular mitral orifice." [NCIT:P378]
synonym: "mitral stenoses" RELATED [MESH:D008946]
synonym: "mitral stenosis" EXACT [DOID:1754, MESH:D008946]
synonym: "mitral valve stenoses" RELATED [MESH:D008946]
synonym: "stenoses, mitral" RELATED [MESH:D008946]
synonym: "stenoses, mitral valve" RELATED [MESH:D008946]
synonym: "stenosis, mitral" RELATED [MESH:D008946]
synonym: "stenosis, mitral valve" RELATED [MESH:D008946]
synonym: "valve stenoses, mitral" RELATED [MESH:D008946]
synonym: "valve stenosis, mitral" RELATED [MESH:D008946]
xref: COHD:315273 {source="MONDO:equivalentTo"}
xref: DOID:1754 {source="MONDO:equivalentTo", source="EFO:0007372"}
xref: EFO:0007372 {source="MONDO:equivalentTo"}
xref: MESH:D008946 {source="MONDO:equivalentTo", source="DOID:1754", source="EFO:0007372", source="MONDO:ontobio"}
xref: SCTID:79619009 {source="MONDO:equivalentTo", source="DOID:1754", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026269 {source="MONDO:equivalentTo", source="DOID:1754"}
is_a: MONDO:0003767 {source="DOID:1754", source="linkedlifedata"} ! mitral valve disease
property_value: closeMatch http://identifiers.org/snomedct/155277002
property_value: closeMatch http://identifiers.org/snomedct/194725005
property_value: exactMatch DOID:1754
property_value: exactMatch http://identifiers.org/mesh/D008946
property_value: exactMatch http://identifiers.org/snomedct/79619009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026269
property_value: exactMatch NCIT:C50654

[Term]
id: MONDO:0005853
name: malignant mixed neoplasm
def: "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." [NCIT:C3729]
synonym: "malignant mixed cancer" EXACT [DOID:154]
synonym: "malignant mixed neoplasm" EXACT [DOID:154, MONDO:0006293, NCIT:C3729]
synonym: "malignant mixed tumor" EXACT [DOID:154, MESH:D018198, NCIT:C3729]
synonym: "malignant mixed tumors" RELATED [MESH:D018198]
synonym: "mixed cell type cancer" RELATED [DOID:154]
synonym: "mixed neoplasm" RELATED [DOID:154]
synonym: "mixed neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mixed tumor" EXACT [DOID:154, NCIT:C6930]
synonym: "mixed tumor, malignant" EXACT [DOID:154]
synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [DOID:154]
synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [DOID:154]
synonym: "mixed tumors, malignant" RELATED [MESH:D018198]
synonym: "tumor, malignant mixed" RELATED [MESH:D018198]
synonym: "tumor, mixed, malignant" EXACT [NCIT:C3729]
synonym: "tumors, malignant mixed" RELATED [MESH:D018198]
xref: DOID:154 {source="MONDO:equivalentTo", source="EFO:0007373"}
xref: EFO:0007373 {source="MONDO:equivalentTo"}
xref: EFO:1000356 {source="MONDO:equivalentTo"}
xref: ICDO:8940/3 {source="NCIT:C3729"}
xref: MESH:D018198 {source="MONDO:equivalentTo", source="DOID:154", source="EFO:0007373", source="MONDO:ontobio"}
xref: NCIT:C3729 {source="MONDO:equivalentTo", source="EFO:1000356"}
xref: UMLS:C0206625 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3729", source="MONDO:equivalentTo", source="DOID:154"}
is_a: MONDO:0004992 {source="DOID:154", source="DOID:154/inferred", source="EFO:0007373/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0005853"} ! cancer
is_a: MONDO:0021043 {source="MESH:D018198", source="MONDO:Redundant", source="MONDOLEX:0005853", source="NCIT:C3729"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189802003
property_value: closeMatch http://identifiers.org/snomedct/8145008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368354
property_value: exactMatch DOID:154
property_value: exactMatch http://identifiers.org/mesh/D018198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206625
property_value: exactMatch NCIT:C3729

[Term]
id: MONDO:0005854
name: mixed connective tissue disease
def: "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus , scleroderma , and polymyositis . Some affected people may also have symptoms of rheumatoid arthritis . Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) , corticosteroids and immunosuppresivedrugsmay help manage the symptoms." [https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease]
subset: gard_rare {source="GARD:0007051"}
subset: ordo_disease {source="Orphanet:809"}
synonym: "connective tissue disease overlap syndrome" EXACT [DOID:3492]
synonym: "MCTD" EXACT [Orphanet:809]
synonym: "mixed collagen vascular disease" EXACT [DOID:3492]
synonym: "sharp syndrome" EXACT [Orphanet:809]
xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"}
xref: EFO:0007374 {source="MONDO:equivalentTo"}
xref: GARD:0007051 {source="MONDO:equivalentTo"}
xref: ICD10:M35.1 {source="ORDO:809/e", source="DOID:3492", source="Orphanet:809"}
xref: MedDRA:10027754 {source="ORDO:809/e", source="Orphanet:809"}
xref: MESH:D008947 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:809/e", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"}
xref: NCIT:C84892 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3492"}
xref: Orphanet:809 {source="MONDO:equivalentTo"}
xref: SCTID:398049005 {source="MONDO:equivalentTo", source="DOID:3492", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0026272 {source="MONDO:equivalentTo", source="NCIT:C84892", source="ORDO:809/e", source="DOID:3492", source="Orphanet:809"}
is_a: MONDO:0000589 ! autoimmune disease of musculoskeletal system
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0005172 {source="EFO:0007374", source="EFO:0007374/inferred"} ! skeletal system disease
is_a: MONDO:0005554 {source="NCIT:C84892"} ! rheumatologic disorder
is_a: MONDO:0015928 {source="Orphanet:809"} ! secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
is_a: MONDO:0016177 {source="Orphanet:809"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
is_a: MONDO:0016663 {source="Orphanet:809"} ! overlapping connective tissue disease
is_a: MONDO:0019724 {source="Orphanet:809"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/33110008
property_value: closeMatch http://identifiers.org/snomedct/398021003
property_value: exactMatch DOID:3492
property_value: exactMatch http://identifiers.org/meddra/10027754
property_value: exactMatch http://identifiers.org/mesh/D008947
property_value: exactMatch http://identifiers.org/snomedct/398049005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026272
property_value: exactMatch NCIT:C84892
property_value: exactMatch Orphanet:809
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease xsd:anyURI {source="GARD:0007051"}

[Term]
id: MONDO:0005855
name: molluscum contagiosum
def: "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" [MESH:D008976]
xref: DOID:8867 {source="MONDO:equivalentTo", source="EFO:0007375"}
xref: EFO:0007375 {source="MONDO:equivalentTo"}
xref: ICD10:B08.1 {source="DOID:8867", source="MONDO:equivalentTo"}
xref: ICD9:078.0 {source="DOID:8867", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008976 {source="DOID:8867", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007375"}
xref: SCTID:40070004 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="DOID:8867", source="MONDO:equivalentTo"}
xref: UMLS:C0026393 {source="DOID:8867", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:8867", source="EFO:0007375", source="MESH:D008976/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154360009
property_value: exactMatch DOID:8867
property_value: exactMatch http://identifiers.org/mesh/D008976
property_value: exactMatch http://identifiers.org/snomedct/40070004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026393

[Term]
id: MONDO:0005856
name: Mononegavirales infectious disease
def: "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." [MESH:D018701]
synonym: "Mononegavirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mononegavirales disease or disorder" EXACT []
xref: EFO:0007376 {source="MONDO:equivalentTo"}
xref: MESH:D018701 {source="MONDO:equivalentTo", source="EFO:0007376"}
xref: UMLS:C0242916 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007376", source="MESH:D018701/inferred", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:1983
property_value: exactMatch http://identifiers.org/mesh/D018701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242916

[Term]
id: MONDO:0005857
name: morbillivirus infectious disease
def: "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." [MESH:D018185]
synonym: "Morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Morbillivirus disease or disorder" EXACT []
synonym: "Morbillivirus infectious disease" EXACT []
xref: EFO:0007377 {source="MONDO:equivalentTo"}
xref: MESH:D018185 {source="MONDO:equivalentTo", source="EFO:0007377"}
xref: UMLS:C0206614 {source="MONDO:equivalentTo"}
is_a: MONDO:0005896 ! Paramyxoviridae infectious disease
property_value: closeMatch DOID:3533
property_value: exactMatch http://identifiers.org/mesh/D018185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206614

[Term]
id: MONDO:0005858
name: mucinous cystadenocarcinoma
def: "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C3776]
synonym: "mucinous cystadenocarcinoma" EXACT [NCIT:C3776]
synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3603]
synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3603]
synonym: "Pseudomucinous adenocarcinoma" EXACT [NCIT:C3776]
synonym: "Pseudomucinous cystadenocarcinoma" EXACT [DOID:3603, NCIT:C3776]
xref: DOID:3603 {source="EFO:0007378", source="MONDO:equivalentTo"}
xref: EFO:0007378 {source="MONDO:equivalentTo"}
xref: ICDO:8470/3 {source="NCIT:C3776"}
xref: MESH:D018282 {source="EFO:0007378", source="MONDO:equivalentTo", source="DOID:3603", source="MONDO:ontobio"}
xref: NCIT:C3776 {source="MONDO:equivalentTo", source="DOID:3603", source="exact-label-match"}
xref: UMLS:C0206699 {source="MONDO:equivalentTo", source="DOID:3603", source="NCIT:C3776"}
is_a: MONDO:0004957 {source="MONDOLEX:0005858", source="NCIT:C3776"} ! mucinous adenocarcinoma
is_a: MONDO:0005596 {source="DOID:3603", source="EFO:0007378", source="MESH:D018282", source="MONDOLEX:0005858", source="NCIT:C3776"} ! cystadenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/189692006
property_value: closeMatch http://identifiers.org/snomedct/79143006
property_value: exactMatch DOID:3603
property_value: exactMatch http://identifiers.org/mesh/D018282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206699
property_value: exactMatch NCIT:C3776

[Term]
id: MONDO:0005859
name: mucocutaneous leishmaniasis
def: "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." [NCIT:C34769]
synonym: "American cutaneous leishmaniasis" EXACT [DOID:9155, NCIT:C34769]
synonym: "American mucocutaneous leishmaniasis" EXACT [DOID:9155]
synonym: "cutaneous leishmaniasis, American" EXACT [DOID:9155, ICD9CM_2006:085.4]
synonym: "mucocutaneous leishmaniasis, (American)" EXACT [DOID:9155, ICD9CM_2006:085.5]
synonym: "mucocutaneous leishmaniasis, American" EXACT [DOID:9155, MTHICD9_2006:085.5]
synonym: "New World cutaneous leishmaniasis" EXACT [DOID:9155]
xref: DOID:9155 {source="EFO:0007379", source="MONDO:equivalentTo"}
xref: EFO:0007379 {source="MONDO:equivalentTo"}
xref: ICD10:B55.2 {source="MONDO:equivalentTo", source="DOID:9155"}
xref: ICD9:085.5 {source="DOID:9155"}
xref: MESH:D007897 {source="EFO:0007379", source="MONDO:equivalentTo", source="DOID:9155", source="MONDO:ontobio"}
xref: NCIT:C34769 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1328252 {source="MONDO:equivalentTo", source="DOID:9155"}
xref: UMLS:C3495436 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98", source="NCIT:C34769"}
is_a: MONDO:0011989 {source="DOID:9155", source="EFO:0007379", source="ICD10:B55.2", source="MESH:D007897/inferred", source="NCIT:C34769/inferred"} ! leishmaniasis
property_value: closeMatch http://identifiers.org/snomedct/186810001
property_value: closeMatch http://identifiers.org/snomedct/39625001
property_value: closeMatch http://identifiers.org/snomedct/403135004
property_value: exactMatch DOID:9155
property_value: exactMatch http://identifiers.org/mesh/D007897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495436
property_value: exactMatch NCIT:C34769

[Term]
id: MONDO:0005861
name: multidrug-resistant tuberculosis
def: "Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis." [NCIT:C128415]
synonym: "MDR-TB" EXACT [NCIT:C128415]
synonym: "multidrug-resistant TB" EXACT [NCIT:C128415]
xref: DOID:401 {source="MONDO:equivalentTo", source="EFO:0007381"}
xref: EFO:0007381 {source="MONDO:equivalentTo"}
xref: MESH:D018088 {source="DOID:401", source="MONDO:equivalentTo", source="EFO:0007381", source="MONDO:ontobio"}
xref: NCIT:C128415 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:423092005 {source="DOID:401", source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0206526 {source="DOID:401", source="MONDO:equivalentTo", source="NCIT:C128415"}
is_a: MONDO:0041806 {source="MONDOLEX:0005861", source="linkedlifedata"} ! drug-resistant tuberculosis
property_value: exactMatch DOID:401
property_value: exactMatch http://identifiers.org/mesh/D018088
property_value: exactMatch http://identifiers.org/snomedct/423092005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206526
property_value: exactMatch NCIT:C128415

[Term]
id: MONDO:0005862
name: multiple chemical sensitivity
def: "An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)" [MESH:D018777]
comment: Editor note: consider obsoletion
subset: speculative
synonym: "20th century disease" RELATED [DOID:4661]
synonym: "chemical AIDS" RELATED [DOID:4661]
synonym: "environmental illness" RELATED [DOID:4661]
synonym: "idiopathic environmental illness" EXACT [DOID:4661, https://en.wikipedia.org/wiki/Multiple_chemical_sensitivity]
synonym: "total allergy syndrome" EXACT [DOID:4661]
xref: DOID:4661 {source="MONDO:equivalentTo", source="EFO:0007382"}
xref: EFO:0007382 {source="MONDO:equivalentTo"}
xref: MESH:D018777 {source="DOID:4661", source="MONDO:equivalentTo", source="EFO:0007382"}
xref: SCTID:702772003 {source="DOID:4661", source="MONDO:equivalentTo"}
xref: UMLS:C0242992 {source="DOID:4661", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:4661", source="MONDOLEX:0005862"} ! syndromic disease
is_a: MONDO:0005046 {source="EFO:0007382", source="MESH:D018777/inferred"} ! immune system disease
property_value: exactMatch DOID:4661
property_value: exactMatch http://identifiers.org/mesh/D018777
property_value: exactMatch http://identifiers.org/snomedct/702772003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242992

[Term]
id: MONDO:0005864
name: muscle cancer
def: "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas." [NCIT:P378]
synonym: "cancer of muscle structure" EXACT [MONDO:patterns/cancer]
synonym: "malignant muscle neoplasm" EXACT [NCIT:C4883]
synonym: "malignant muscle structure neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant muscle tumor" EXACT [NCIT:C4883]
synonym: "malignant neoplasm of muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "malignant neoplasm of muscle structure" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the muscle" EXACT [NCIT:C4883]
synonym: "malignant tumor of muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "malignant tumor of the muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "muscle structure cancer" EXACT [MONDO:patterns/location]
synonym: "myosarcoma" EXACT [DOID:4045, NCIT:C4883]
xref: DOID:4045 {source="MONDO:equivalentTo", source="EFO:0007384"}
xref: EFO:0007384 {source="MONDO:equivalentTo"}
xref: ICD10:C49 {source="DOID:4045"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8895/3 {source="NCIT:C4883"}
xref: NCIT:C4883 {source="DOID:4045", source="MONDO:kboom-pr-0.96/0.92/0.20", source="MONDO:equivalentTo"}
xref: SCTID:363495004 {source="DOID:4045", source="MONDO:kboom-pr-1.00/0.91/26.47", source="MONDO:equivalentTo"}
xref: UMLS:C0027095 {source="DOID:4045", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0684743 {source="DOID:4045", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4883"}
is_a: MONDO:0000637 {source="DOID:4045"} ! musculoskeletal system cancer
property_value: closeMatch http://identifiers.org/mesh/D009217
property_value: closeMatch http://identifiers.org/snomedct/20667008
property_value: closeMatch http://identifiers.org/snomedct/93913006
property_value: exactMatch DOID:4045
property_value: exactMatch http://identifiers.org/snomedct/363495004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684743
property_value: exactMatch NCIT:C4883

[Term]
id: MONDO:0005865
name: mushroom workers' lung
def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." [DOID:2708, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf]
xref: COHD:433233 {source="MONDO:equivalentTo"}
xref: DOID:2708 {source="MONDO:equivalentTo", source="EFO:0007385"}
xref: EFO:0007385 {source="MONDO:equivalentTo"}
xref: ICD10:J67.5 {source="DOID:2708"}
xref: ICD9:495.5 {source="DOID:2708", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:52333004 {source="DOID:2708", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155889 {source="DOID:2708", source="MONDO:equivalentTo"}
is_a: MONDO:0004553 {source="DOID:2708"} ! extrinsic allergic alveolitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: exactMatch DOID:2708
property_value: exactMatch http://identifiers.org/snomedct/52333004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155889

[Term]
id: MONDO:0005866
name: mycobacterium avium complex disease
def: "An infection that is caused by Mycobacterium avium." [NCIT:P378]
subset: gard_rare
synonym: "disseminated infection with mycobacterium avium complex" RELATED [GARD:0009236]
synonym: "DMAC" RELATED [GARD:0009236]
synonym: "infection due to Mycobacterium intracellulare" EXACT [DOID:2755]
synonym: "MAC disease" EXACT [DOID:2755]
synonym: "Mycobacterium avium Complex" EXACT [CSP2005:0322-0521, DOID:2755]
synonym: "Mycobacterium avium complex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium avium complex disease or disorder" EXACT []
synonym: "Mycobacterium avium complex infectious disease" EXACT []
synonym: "Mycobacterium avium infection" EXACT [DOID:2755, NCIT:C36197]
xref: DOID:2755 {source="MONDO:equivalentTo", source="EFO:0007386"}
xref: EFO:0007386 {source="MONDO:equivalentTo"}
xref: GARD:0009236 {source="MONDO:equivalentTo"}
xref: ICD9:031.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015270 {source="MONDO:equivalentTo", source="DOID:2755", source="EFO:0007386"}
xref: NCIT:C36197 {source="MONDO:equivalentTo", source="DOID:2755", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:373436002 {source="MONDO:equivalentTo", source="DOID:2755", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026916 {source="NCIT:C36197", source="MONDO:equivalentTo", source="DOID:2755"}
is_a: MONDO:0000314 {source="DOID:2755"} ! primary bacterial infectious disease
is_a: MONDO:0020590 ! mycobacterial infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/14009004
property_value: exactMatch DOID:2755
property_value: exactMatch http://identifiers.org/mesh/D015270
property_value: exactMatch http://identifiers.org/snomedct/373436002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026916
property_value: exactMatch NCIT:C36197
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex xsd:anyURI {source="GARD:0009236"}

[Term]
id: MONDO:0005867
name: Mycoplasma pneumoniae pneumonia
def: "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." [MESH:D011019]
synonym: "cold agglutinin positive pneumonia" EXACT [CSP2005:2596-5678]
synonym: "Mycoplasma pneumonia" EXACT [DOID:13276]
synonym: "Mycoplasmal pneumonia" EXACT []
synonym: "pneumonia due to Eaton's agent" EXACT [MTHICD9_2006:483.0]
synonym: "pneumonia due to Mycoplasma pneumoniae" EXACT [ICD9CM_2006:483.0]
synonym: "pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT []
xref: DOID:13276 {source="MONDO:equivalentTo", source="MONDO:obsolete", source="EFO:0007387"}
xref: EFO:0007387 {source="MONDO:equivalentTo"}
xref: GARD:0007125 {source="MONDO:equivalentTo"}
xref: ICD10:J15.7 {source="DOID:13276"}
xref: ICD9:483.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13276"}
xref: MESH:D011019 {source="MONDO:equivalentTo", source="DOID:13276", source="EFO:0007387"}
xref: NCIT:C122526 {source="MONDO:equivalentTo"}
xref: SCTID:46970008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0004652 {source="DOID:13276", source="MESH:D011019", source="NCIT:C122526", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial pneumonia
property_value: exactMatch DOID:13276
property_value: exactMatch http://identifiers.org/mesh/D011019
property_value: exactMatch http://identifiers.org/snomedct/46970008
property_value: exactMatch NCIT:C122526

[Term]
id: MONDO:0005868
name: myelophthisic anemia
def: "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." [NCIT:P378]
synonym: "anemia LEUKOERYTHROBLASTIC" EXACT [DOID:2354, MTH:NOCODE]
synonym: "anemia, leukoerythroblastic" EXACT [DOID:2354, MTHICD9_2006:285.8]
synonym: "leukoerythroblastic reaction" EXACT [NCIT:C36218]
synonym: "leukoerythroblastosis" EXACT [DOID:2354, NCIT:C36218]
synonym: "myelophthisis" RELATED [DOID:2354]
xref: DOID:2354 {source="MONDO:equivalentTo", source="EFO:0007388"}
xref: EFO:0007388 {source="MONDO:equivalentTo"}
xref: ICD10:D61.82 {source="DOID:2354", source="MONDO:equivalentTo"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000750 {source="DOID:2354", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007388"}
xref: NCIT:C36218 {source="DOID:2354", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:2694001 {source="DOID:2354", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0002890 {source="DOID:2354", source="MONDO:equivalentTo"}
is_a: MONDO:0012197 {source="DOID:2354"} ! idiopathic aplastic anemia
property_value: exactMatch DOID:2354
property_value: exactMatch http://identifiers.org/mesh/D000750
property_value: exactMatch http://identifiers.org/snomedct/2694001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002890
property_value: exactMatch NCIT:C36218

[Term]
id: MONDO:0005869
name: obsolete myiasis
is_obsolete: true
replaced_by: MONDO:0019147

[Term]
id: MONDO:0005870
name: necatoriasis
def: "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." [NCIT:P378]
xref: DOID:2790 {source="MONDO:equivalentTo", source="EFO:0007390"}
xref: EFO:0007390 {source="MONDO:equivalentTo"}
xref: ICD10:B76.1 {source="MONDO:equivalentTo", source="DOID:2790"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009332 {source="MONDO:equivalentTo", source="EFO:0007390", source="MONDO:ontobio", source="DOID:2790"}
xref: NCIT:C34838 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2790"}
xref: SCTID:36667009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2790"}
xref: UMLS:C0027528 {source="NCIT:C34838", source="MONDO:equivalentTo", source="DOID:2790"}
is_a: MONDO:0004664 {source="DOID:2790", source="ICD10:B76.1/inferred", source="MESH:D009332/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: exactMatch DOID:2790
property_value: exactMatch http://identifiers.org/mesh/D009332
property_value: exactMatch http://identifiers.org/snomedct/36667009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027528
property_value: exactMatch NCIT:C34838

[Term]
id: MONDO:0005871
name: Nematoda infectious disease
alt_id: MONDO:0021556
def: "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." [MESH:D007815]
synonym: "Disease due to Nematoda" RELATED [UMLS:C0027583]
synonym: "disease due to nematoda" EXACT []
synonym: "Infection, Nematode" RELATED [MESH:D009349, MSH:D009349]
synonym: "Infections, Nematode" RELATED [MESH:D009349, MSH:D009349]
synonym: "Nematoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nematoda disease or disorder" EXACT []
synonym: "Nematode Infection" RELATED [MESH:D009349, MSH:D009349]
synonym: "Nematode infection" RELATED [UMLS:C0027583]
synonym: "nematode infection" RELATED []
synonym: "Nematode Infections" RELATED [MSH:D009349]
synonym: "Nematodiasis" RELATED [UMLS:C0027583]
synonym: "nematodiasis" RELATED []
xref: EFO:0007391 {source="MONDO:equivalentTo"}
xref: MESH:D009349 {source="UMLS:C0027583", source="MONDO:equivalentTo"}
xref: SCTID:84706005 {source="UMLS:C0027583", source="MONDO:equivalentTo"}
xref: UMLS:C0027583 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="MESH:D009349"} ! helminthiasis
property_value: closeMatch DOID:3106
property_value: exactMatch http://identifiers.org/mesh/D009349
property_value: exactMatch http://identifiers.org/snomedct/84706005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027583

[Term]
id: MONDO:0005872
name: nervous system cancer
def: "A primary or metastatic malignant neoplasm involving the nervous system." [NCIT:C4788]
synonym: "cancer of nervous system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of nervous system" EXACT [DOID:3093, MONDO:patterns/cancer, NCIT:C4788]
synonym: "malignant neoplasm of the nervous system" EXACT [NCIT:C4788]
synonym: "malignant nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4788]
synonym: "malignant nervous system tumor" EXACT [NCIT:C4788]
synonym: "malignant tumor of nervous system" EXACT [NCIT:C4788]
synonym: "malignant tumor of the nervous system" EXACT [NCIT:C4788]
synonym: "neoplasm of nervous system" EXACT EXCLUDE [DOID:3093]
synonym: "nervous system cancer" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasm" EXACT [CSP2005:2012-5157, DOID:3093]
synonym: "nervous system neoplasms, malignant" EXACT [NCIT:C4788]
synonym: "neural neoplasm" EXACT [DOID:3093]
synonym: "neural tumor" EXACT [DOID:3093]
synonym: "tumor of the nervous system" EXACT [DOID:3093, NCIT:C3268]
xref: DOID:3093 {source="MONDO:equivalentTo", source="EFO:0007392"}
xref: EFO:0007392 {source="MONDO:equivalentTo"}
xref: ICD9:192 {source="DOID:3093"}
xref: ICD9:192.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:192.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:3093"}
xref: MESH:D009423 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4788 {source="MONDO:equivalentTo"}
xref: SCTID:372063002 {source="MONDO:kboom-pr-0.89/0.76/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:3093", source="DOID:3093/inferred", source="EFO:0007392/inferred", source="MONDO:Redundant", source="MONDOLEX:0005872", source="linkedlifedata"} ! cancer
is_a: MONDO:0021248 {source="MONDO:Redundant", source="MONDOLEX:0005872", source="NCIT:C4788"} ! nervous system neoplasm
property_value: closeMatch http://identifiers.org/mesh/D009380
property_value: closeMatch http://identifiers.org/snomedct/188306000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027665
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153643
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0497549
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334956
property_value: closeMatch NCIT:C35562
property_value: exactMatch DOID:3093
property_value: exactMatch http://identifiers.org/mesh/D009423
property_value: exactMatch http://identifiers.org/snomedct/372063002
property_value: exactMatch NCIT:C4788

[Term]
id: MONDO:0005873
name: neuroaspergillosis
def: "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" [MESH:D020953]
xref: DOID:13565 {source="MONDO:equivalentTo", source="EFO:0007393"}
xref: EFO:0007393 {source="MONDO:equivalentTo"}
xref: MESH:D020953 {source="MONDO:equivalentTo", source="EFO:0007393", source="MONDO:ontobio", source="DOID:13565"}
xref: UMLS:C0752342 {source="MONDO:equivalentTo", source="DOID:13565"}
is_a: MONDO:0005657 {source="DOID:13565", source="MESH:D020953"} ! aspergillosis
property_value: exactMatch DOID:13565
property_value: exactMatch http://identifiers.org/mesh/D020953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752342

[Term]
id: MONDO:0005874
name: neuroschistosomiasis
def: "schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" [MESH:D020818]
xref: DOID:13722 {source="MONDO:equivalentTo", source="EFO:0007394"}
xref: EFO:0007394 {source="MONDO:equivalentTo"}
xref: MESH:D020818 {source="DOID:13722", source="MONDO:equivalentTo", source="EFO:0007394", source="MONDO:ontobio"}
xref: UMLS:C0752191 {source="DOID:13722", source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="DOID:13722", source="MESH:D020818", source="MONDO:Redundant"} ! schistosomiasis
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: exactMatch DOID:13722
property_value: exactMatch http://identifiers.org/mesh/D020818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752191

[Term]
id: MONDO:0005875
name: Newcastle disease
def: "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." [NCIT:P378]
synonym: "Newcastle's disease" EXACT [DOID:2929]
synonym: "pseudo-fowlpest" EXACT [DOID:2929]
xref: DOID:2929 {source="MONDO:equivalentTo", source="EFO:0007395"}
xref: EFO:0007395 {source="MONDO:equivalentTo"}
xref: MESH:D009521 {source="DOID:2929", source="MONDO:equivalentTo", source="EFO:0007395", source="MONDO:ontobio"}
xref: NCIT:C34849 {source="DOID:2929", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0027983 {source="DOID:2929", source="NCIT:C34849", source="MONDO:equivalentTo"}
is_a: MONDO:0005660 ! Avulavirus infectious disease
property_value: closeMatch http://identifiers.org/snomedct/155162002
property_value: closeMatch http://identifiers.org/snomedct/231859001
property_value: closeMatch http://identifiers.org/snomedct/258300000
property_value: closeMatch http://identifiers.org/snomedct/267734002
property_value: closeMatch http://identifiers.org/snomedct/89366008
property_value: exactMatch DOID:2929
property_value: exactMatch http://identifiers.org/mesh/D009521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027983
property_value: exactMatch NCIT:C34849

[Term]
id: MONDO:0005876
name: Nidovirales infectious disease
def: "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections." [MESH:D030341]
synonym: "Nidovirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nidovirales disease or disorder" EXACT []
xref: EFO:0007396 {source="MONDO:equivalentTo"}
xref: MESH:D030341 {source="MONDO:equivalentTo", source="EFO:0007396"}
xref: UMLS:C0969753 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007396", source="MESH:D030341/inferred", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:2949
property_value: exactMatch http://identifiers.org/mesh/D030341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0969753

[Term]
id: MONDO:0005877
name: obsolete nocardiosis
is_obsolete: true
replaced_by: MONDO:0017776

[Term]
id: MONDO:0005878
name: ocular onchocerciasis
def: "Onchocerciasis affecting the eye." [NCIT:C34862]
synonym: "eyeball of camera-type eye onchocerciasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "onchocerciasis of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
xref: EFO:0007398 {source="MONDO:equivalentTo"}
xref: MESH:D015827 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007398"}
xref: NCIT:C34862 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:240842000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.19"}
xref: UMLS:C0029002 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34862"}
is_a: MONDO:0017137 {source="MESH:D015827", source="MONDO:Redundant", source="NCIT:C34862", source="linkedlifedata"} ! onchocerciasis
is_a: MONDO:0020947 ! parasitic eye infection
property_value: closeMatch DOID:11680
property_value: exactMatch http://identifiers.org/mesh/D015827
property_value: exactMatch http://identifiers.org/snomedct/240842000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029002
property_value: exactMatch NCIT:C34862

[Term]
id: MONDO:0005879
name: ocular toxoplasmosis
def: "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." [https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis]
subset: gard_rare {source="GARD:0007238"}
xref: EFO:0007399 {source="MONDO:equivalentTo"}
xref: GARD:0007238 {source="MONDO:equivalentTo"}
xref: ICD9:130.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014126 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007399"}
xref: SCTID:416481006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0040561 {source="GARD:0007238", source="MONDO:equivalentTo"}
is_a: MONDO:0005989 ! toxoplasmosis
is_a: MONDO:0020947 ! parasitic eye infection
property_value: closeMatch DOID:13343
property_value: exactMatch http://identifiers.org/mesh/D014126
property_value: exactMatch http://identifiers.org/snomedct/416481006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040561
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis xsd:anyURI {source="GARD:0007238"}

[Term]
id: MONDO:0005880
name: oesophagostomiasis
def: "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." [MESH:D009814]
synonym: "infection by Oesophagostomum" EXACT [DOID:3983]
synonym: "Oesophagostomum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oesophagostomum disease or disorder" EXACT []
synonym: "Oesophagostomum infectious disease" EXACT []
xref: DOID:3983 {source="EFO:0007400", source="MONDO:equivalentTo"}
xref: EFO:0007400 {source="MONDO:equivalentTo"}
xref: ICD9:127.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009814 {source="EFO:0007400", source="DOID:3983", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:22500005 {source="DOID:3983", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0028887 {source="DOID:3983", source="MONDO:equivalentTo"}
is_a: MONDO:0005973 ! Strongylida infectious disease
property_value: exactMatch DOID:3983
property_value: exactMatch http://identifiers.org/mesh/D009814
property_value: exactMatch http://identifiers.org/snomedct/22500005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028887

[Term]
id: MONDO:0005881
name: oligohydramnios (disease)
def: "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." [NCIT:P378]
comment: Consider obsoleting as represents a finding
synonym: "antepartum oligohydramnios" EXACT [DOID:12215]
synonym: "delivered oligohydramnios" EXACT [DOID:12215]
synonym: "oligohydramnios" EXACT [MONDO:ambiguous]
synonym: "oligohydramnios - delivered" EXACT [DOID:12215]
xref: DOID:12215 {source="EFO:0007401", source="MONDO:equivalentTo"}
xref: EFO:0007401 {source="MONDO:equivalentTo"}
xref: HP:0001562 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:O41.0 {source="DOID:12215"}
xref: ICD10:O41.00 {source="DOID:12215"}
xref: ICD9:658.0 {source="DOID:12215"}
xref: ICD9:658.00 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016104 {source="EFO:0007401", source="DOID:12215", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:59566000 {source="DOID:12215", source="MONDO:equivalentTo"}
is_a: MONDO:0005917 {source="DOID:12215", source="EFO:0007401"} ! placenta disease
property_value: closeMatch http://identifiers.org/snomedct/156190009
property_value: closeMatch http://identifiers.org/snomedct/157051001
property_value: closeMatch http://identifiers.org/snomedct/199652007
property_value: closeMatch http://identifiers.org/snomedct/199656005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079924
property_value: exactMatch DOID:12215
property_value: exactMatch http://identifiers.org/mesh/D016104
property_value: exactMatch http://identifiers.org/snomedct/59566000
property_value: exactMatch NCIT:C92839

[Term]
id: MONDO:0005882
name: obsolete onchocerciasis
is_obsolete: true
replaced_by: MONDO:0017137

[Term]
id: MONDO:0005883
name: ophthalmic herpes zoster
def: "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." [MESH:D006563]
synonym: "herpes zoster ophthalmicus" EXACT []
synonym: "Herpes zoster ophthalmicus (HZO)" RELATED [GARD:0009721]
synonym: "HZO" RELATED [GARD:0009721]
xref: COHD:372828 {source="MONDO:equivalentTo"}
xref: EFO:0007403 {source="MONDO:equivalentTo"}
xref: GARD:0009721 {source="MONDO:equivalentTo"}
xref: ICD9:053.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006563 {source="EFO:0007403", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:87513003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019364 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003543 ! trigeminal nerve disease
is_a: MONDO:0005609 {source="EFO:0007403", source="MESH:D006563", source="linkedlifedata", source="linkedlifedata/inferred"} ! herpes zoster
is_a: MONDO:0020010 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system
property_value: closeMatch DOID:8535
property_value: exactMatch http://identifiers.org/mesh/D006563
property_value: exactMatch http://identifiers.org/snomedct/87513003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019364

[Term]
id: MONDO:0005884
name: opisthorchiasis
def: "Infection with flukes of the genus Opisthorchis." [MESH:D009889]
subset: gard_rare {source="GARD:0009746"}
synonym: "infection by Opisthorchis" EXACT [DOID:13768, MTHICD9_2006:121.0]
synonym: "infection due to cat liver fluke" RELATED [GARD:0009746]
synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:0009746]
xref: DOID:13768 {source="EFO:0007404", source="MONDO:equivalentTo"}
xref: EFO:0007404 {source="MONDO:equivalentTo"}
xref: GARD:0009746 {source="MONDO:equivalentTo"}
xref: ICD10:B66.0 {source="DOID:13768", source="MONDO:equivalentTo"}
xref: ICD9:121.0 {source="DOID:13768", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009889 {source="DOID:13768", source="EFO:0007404", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:1059007 {source="DOID:13768", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0029106 {source="DOID:13768", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:13768", source="ICD10:B66.0/inferred", source="MESH:D009889/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/187124006
property_value: exactMatch DOID:13768
property_value: exactMatch http://identifiers.org/mesh/D009889
property_value: exactMatch http://identifiers.org/snomedct/1059007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029106
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis xsd:anyURI {source="GARD:0009746"}

[Term]
id: MONDO:0005885
name: optic neuritis
def: "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis , drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." [https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis]
subset: gard_rare {source="GARD:0007320"}
xref: COHD:374954 {source="MONDO:equivalentTo"}
xref: DOID:1210 {source="EFO:0007405", source="MONDO:equivalentTo"}
xref: EFO:0007405 {source="MONDO:equivalentTo"}
xref: GARD:0007320 {source="MONDO:equivalentTo"}
xref: ICD10:H46 {source="DOID:1210", source="MONDO:equivalentTo"}
xref: ICD10:H46.9 {source="DOID:1210"}
xref: ICD9:377.3 {source="DOID:1210"}
xref: ICD9:377.30 {source="DOID:1210", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:377.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009902 {source="DOID:1210", source="EFO:0007405", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84950 {source="DOID:1210", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:66760008 {source="DOID:1210", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.06"}
is_a: MONDO:0002135 {source="DOID:1210", source="MESH:D009902", source="MONDO:Redundant", source="NCIT:C84950/inferred", source="linkedlifedata"} ! optic nerve disease
is_a: MONDO:0005156 ! encephalomyelitis
is_a: MONDO:0005328 {source="EFO:0007405", source="MESH:D009902/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/155189007
property_value: closeMatch http://identifiers.org/snomedct/194051001
property_value: closeMatch http://identifiers.org/snomedct/194052008
property_value: closeMatch http://identifiers.org/snomedct/194054009
property_value: closeMatch http://identifiers.org/snomedct/267743006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029134
property_value: exactMatch DOID:1210
property_value: exactMatch http://identifiers.org/mesh/D009902
property_value: exactMatch http://identifiers.org/snomedct/66760008
property_value: exactMatch NCIT:C84950
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis xsd:anyURI {source="GARD:0007320"}

[Term]
id: MONDO:0005886
name: oral candidiasis
def: "Infection of the mucosal lining of the mouth with the fungus Candida albicans." [NCIT:P378]
synonym: "candidiasis of mouth" EXACT [DOID:14262, ICD9CM_2006:112.0]
synonym: "mouth candidiasis" EXACT [MONDO:patterns/location]
synonym: "oral moniliasis" EXACT [DOID:14262]
synonym: "thrush" EXACT [DOID:14262, NCIT:C28137]
synonym: "thrush, oral" EXACT [DOID:14262, MTHICD9_2006:112.0]
xref: COHD:29735 {source="MONDO:equivalentTo"}
xref: DOID:14262 {source="MONDO:equivalentTo", source="EFO:0007406"}
xref: EFO:0007406 {source="MONDO:equivalentTo"}
xref: ICD10:B37.0 {source="DOID:14262"}
xref: ICD10:B37.9 {source="DOID:14262"}
xref: ICD9:112.0 {source="MONDO:equivalentTo", source="DOID:14262", source="i2s"}
xref: MESH:D002180 {source="MONDO:equivalentTo", source="DOID:14262", source="EFO:0007406", source="MONDO:ontobio"}
xref: NCIT:C28137 {source="MONDO:equivalentTo", source="DOID:14262", source="MONDO:kboom-pr-1.00/0.80/5.41"}
xref: SCTID:79740000 {source="MONDO:kboom-pr-0.94/0.76/1.60", source="MONDO:equivalentTo", source="DOID:14262"}
xref: UMLS:C0006849 {source="NCIT:C28137", source="MONDO:equivalentTo", source="DOID:14262"}
is_a: MONDO:0002026 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant", source="NCIT:C28137", source="linkedlifedata"} ! candidiasis
is_a: MONDO:0006858 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant", source="linkedlifedata"} ! mouth disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://identifiers.org/snomedct/187005005
property_value: closeMatch http://identifiers.org/snomedct/187006006
property_value: closeMatch http://identifiers.org/snomedct/367093001
property_value: exactMatch DOID:14262
property_value: exactMatch http://identifiers.org/mesh/D002180
property_value: exactMatch http://identifiers.org/snomedct/79740000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006849
property_value: exactMatch NCIT:C28137

[Term]
id: MONDO:0005887
name: oral tuberculosis
def: "Tuberculosis of the mouth, tongue, and salivary glands." [MESH:D014393]
xref: DOID:402 {source="EFO:0007407", source="MONDO:equivalentTo"}
xref: EFO:0007407 {source="MONDO:equivalentTo"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014393 {source="DOID:402", source="EFO:0007407", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:235067001 {source="DOID:402", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0041323 {source="DOID:402", source="MONDO:equivalentTo"}
is_a: MONDO:0005768 {source="DOID:402", source="EFO:0007407"} ! gastrointestinal tuberculosis
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch DOID:402
property_value: exactMatch http://identifiers.org/mesh/D014393
property_value: exactMatch http://identifiers.org/snomedct/235067001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041323

[Term]
id: MONDO:0005888
name: ornithosis
def: "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." [NCIT:P378]
synonym: "psittacosis" EXACT [DOID:11262]
xref: DOID:11262 {source="MONDO:equivalentTo", source="EFO:0007410"}
xref: EFO:0007410 {source="MONDO:equivalentTo"}
xref: GARD:0007492 {source="MONDO:equivalentTo"}
xref: ICD10:A70 {source="DOID:11262"}
xref: ICD9:073 {source="DOID:11262"}
xref: ICD9:073.9 {source="MONDO:equivalentTo", source="DOID:11262", source="i2s"}
xref: MESH:D009956 {source="MONDO:equivalentTo", source="DOID:11262", source="MONDO:ontobio", source="EFO:0007410"}
xref: NCIT:C34873 {source="MONDO:kboom-pr-0.87/0.72/0.25", source="MONDO:equivalentTo", source="DOID:11262"}
xref: SCTID:75116005 {source="MONDO:equivalentTo", source="DOID:11262", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0029291 {source="MONDO:equivalentTo", source="DOID:11262", source="NCIT:C34873"}
is_a: MONDO:0000314 {source="DOID:11262"} ! primary bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154367007
property_value: closeMatch http://identifiers.org/snomedct/154369005
property_value: closeMatch http://identifiers.org/snomedct/186653003
property_value: closeMatch http://identifiers.org/snomedct/186657002
property_value: closeMatch http://identifiers.org/snomedct/266200005
property_value: exactMatch DOID:11262
property_value: exactMatch http://identifiers.org/mesh/D009956
property_value: exactMatch http://identifiers.org/snomedct/75116005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029291
property_value: exactMatch NCIT:C34873

[Term]
id: MONDO:0005889
name: orthomyxoviridae infectious disease
def: "Virus diseases caused by the orthomyxoviridae." [MESH:D009976]
synonym: "Orthomyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Orthomyxoviridae disease or disorder" EXACT []
synonym: "Orthomyxoviridae infectious disease" EXACT []
xref: EFO:0007411 {source="MONDO:equivalentTo"}
xref: MESH:D009976 {source="EFO:0007411", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007411", source="MESH:D009976/inferred", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:4493
property_value: exactMatch http://identifiers.org/mesh/D009976

[Term]
id: MONDO:0005890
name: osteitis fibrosa
def: "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." [NCIT:P378]
synonym: "hyperparathyroid bone disease" EXACT [DOID:3341]
synonym: "osteitis fibrosa cystica" EXACT [NCIT:C34875]
synonym: "osteitis fibrosa cystica generalisata" EXACT [DOID:3341]
synonym: "Von Recklinghausen disease of Bone" EXACT [NCIT:C34875]
synonym: "Von Recklinghausen's bone disease" EXACT [DOID:3341]
synonym: "Von Recklinghausen's disease of Bone" EXACT [NCIT:C34875]
xref: DOID:3341 {source="EFO:0007413", source="MONDO:equivalentTo"}
xref: EFO:0007413 {source="MONDO:equivalentTo"}
xref: MESH:D010002 {source="DOID:3341", source="EFO:0007413", source="MONDO:equivalentTo"}
xref: NCIT:C34875 {source="DOID:3341", source="MONDO:equivalentTo"}
xref: SCTID:84727000 {source="DOID:3341", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:C0029405 {source="DOID:3341", source="MONDO:equivalentTo"}
is_a: MONDO:0000837 {source="DOID:3341"} ! bone resorption disease
property_value: closeMatch http://identifiers.org/snomedct/190451000
property_value: closeMatch http://identifiers.org/snomedct/190453002
property_value: exactMatch DOID:3341
property_value: exactMatch http://identifiers.org/mesh/D010002
property_value: exactMatch http://identifiers.org/snomedct/84727000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029405
property_value: exactMatch NCIT:C34875

[Term]
id: MONDO:0005891
name: ostertagiasis
def: "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia." [MESH:D010029]
xref: DOID:3985 {source="EFO:0007414", source="MONDO:equivalentTo"}
xref: EFO:0007414 {source="MONDO:equivalentTo"}
xref: MESH:D010029 {source="EFO:0007414", source="MONDO:equivalentTo", source="DOID:3985", source="MONDO:ontobio"}
xref: UMLS:C0029471 {source="MONDO:equivalentTo", source="DOID:3985"}
is_a: MONDO:0005994 {source="DOID:3985", source="MESH:D010029"} ! trichostrongyloidiasis
property_value: exactMatch DOID:3985
property_value: exactMatch http://identifiers.org/mesh/D010029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029471

[Term]
id: MONDO:0005892
name: otitis media with effusion
def: "Otitis media associated with accumulation of fluid in the middle ear." [NCIT:C34886]
synonym: "OME" EXACT [NCIT:C34886]
synonym: "secretory otitis Media" EXACT [NCIT:C34886]
synonym: "secretory otitis Media" RELATED [NCIT:C34886]
synonym: "serous otitis Media" EXACT [NCIT:C34886]
xref: EFO:0007415 {source="MONDO:equivalentTo"}
xref: ICD9:381.20 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:381.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010034 {source="EFO:0007415", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34886 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:78868004 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0021206 {source="linkedlifedata"} ! chronic non-suppurative otitis media
property_value: closeMatch DOID:11179
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029883
property_value: exactMatch http://identifiers.org/mesh/D010034
property_value: exactMatch http://identifiers.org/snomedct/78868004
property_value: exactMatch NCIT:C34886

[Term]
id: MONDO:0005893
name: pancreatic endocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." [NCIT:C3770]
subset: ordo_disease
synonym: "carcinoma of endocrine pancreas" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, islet cell, malignant" EXACT [NCIT:C3770]
synonym: "endocrine pancreas carcinoma" EXACT [MONDO:patterns/location]
synonym: "high grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770]
synonym: "high-grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770]
synonym: "islet cell cancer" EXACT [NCIT:C3770]
synonym: "islet cell carcinoma" EXACT [NCIT:C3770]
synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [DOID:1798]
synonym: "malignant islet cell tumor" EXACT [NCIT:C3770]
synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798]
synonym: "malignant pancreatic endocrine tumor" EXACT [NCIT:C3770]
synonym: "neuroendocrine carcinoma of pancreas" RELATED [Orphanet:506098]
synonym: "pancreatic endocrine cancer" EXACT [NCIT:C3770]
synonym: "pancreatic endocrine carcinoma" EXACT [NCIT:C3770]
synonym: "pancreatic NEC" EXACT [NCIT:C3770, Orphanet:506098]
synonym: "pancreatic NEC G3" EXACT [NCIT:C3770]
synonym: "Pancreatic Neuroendocrine cancer" EXACT [NCIT:C3770]
synonym: "pancreatic neuroendocrine carcinoma" EXACT [DOID:1798, NCIT:C3770, Orphanet:506098]
synonym: "poorly differentiated pancreatic endocrine carcinoma" EXACT [NCIT:C3770]
synonym: "poorly-differentiated NEN of pancreas" EXACT [Orphanet:506098]
synonym: "poorly-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506098]
synonym: "poorly-differentiated pancreatic NEN" EXACT [Orphanet:506098]
synonym: "poorly-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506098]
xref: DOID:1798 {source="EFO:0007416", source="MONDO:equivalentTo"}
xref: EFO:0007416 {source="MONDO:equivalentTo"}
xref: ICD10:C25.4 {source="MONDO:equivalentTo", source="DOID:1798"}
xref: ICD9:157.4 {source="DOID:1798"}
xref: ICDO:8150/3 {source="NCIT:C3770"}
xref: MESH:D018273 {source="EFO:0007416", source="MONDO:equivalentTo", source="DOID:1798"}
xref: NCIT:C3770 {source="MONDO:equivalentTo", source="DOID:1798"}
xref: Orphanet:506098 {source="MONDO:equivalentTo"}
xref: SCTID:254612002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.83", source="DOID:1798"}
xref: UMLS:C1328479 {source="NCIT:C3770", source="MONDO:equivalentTo", source="DOID:1798"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0005815 {source="DOID:1798", source="MONDO:Redundant", source="NCIT:C3770", source="Orphanet:506098", source="linkedlifedata"} ! pancreatic neuroendocrine neoplasm
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3770/inferred"} ! digestive system carcinoma
is_a: MONDO:0009831 {source="DOID:1798/inferred", source="MONDO:Redundant", source="NCIT:C3770"} ! malignant pancreatic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187794005
property_value: closeMatch http://identifiers.org/snomedct/60346004
property_value: closeMatch http://identifiers.org/snomedct/93843007
property_value: exactMatch DOID:1798
property_value: exactMatch http://identifiers.org/mesh/D018273
property_value: exactMatch http://identifiers.org/snomedct/254612002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328479
property_value: exactMatch NCIT:C3770
property_value: exactMatch Orphanet:506098

[Term]
id: MONDO:0005894
name: paracoccidioidomycosis
def: "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." [NCIT:P378]
subset: gard_rare {source="GARD:0007323"}
subset: ordo_disease {source="Orphanet:73260"}
synonym: "lobo disease" RELATED [GARD:0007323]
synonym: "Lutz-Splendore-Almeida disease" RELATED [GARD:0007323]
synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [DOID:12662, MTHICD9_2006:116.1]
synonym: "Paracoccidioidal granuloma" RELATED [GARD:0007323]
synonym: "paracoccidioidal mycosis" EXACT [CSP2005:1988-4119, DOID:12662]
synonym: "PCM" RELATED [GARD:0007323]
synonym: "South American blastomycosis" RELATED [GARD:0007323]
xref: DOID:12662 {source="MONDO:equivalentTo", source="EFO:0007417"}
xref: EFO:0007417 {source="MONDO:equivalentTo"}
xref: GARD:0007323 {source="MONDO:equivalentTo"}
xref: ICD10:B41 {source="MONDO:equivalentTo", source="DOID:12662"}
xref: ICD10:B41.0 {source="ORDO:73260/btnt", source="Orphanet:73260"}
xref: ICD10:B41.7 {source="ORDO:73260/btnt", source="Orphanet:73260"}
xref: ICD10:B41.8 {source="ORDO:73260/btnt", source="Orphanet:73260"}
xref: ICD10:B41.9 {source="ORDO:73260/btnt", source="DOID:12662", source="Orphanet:73260"}
xref: ICD9:116.1 {source="DOID:12662"}
xref: MedDRA:10061906 {source="ORDO:73260/e", source="Orphanet:73260"}
xref: MESH:D010229 {source="MONDO:equivalentTo", source="EFO:0007417", source="ORDO:73260/e", source="MONDO:ontobio", source="DOID:12662", source="Orphanet:73260"}
xref: NCIT:C34891 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12662"}
xref: Orphanet:73260 {source="MONDO:equivalentTo"}
xref: SCTID:36866003 {source="MONDO:equivalentTo", source="DOID:12662", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0030409 {source="NCIT:C34891", source="MONDO:equivalentTo", source="ORDO:73260/e", source="DOID:12662", source="Orphanet:73260"}
is_a: MONDO:0000308 {source="DOID:12662"} ! primary systemic mycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187074005
property_value: closeMatch http://identifiers.org/snomedct/187486002
property_value: closeMatch http://identifiers.org/snomedct/59925007
property_value: exactMatch DOID:12662
property_value: exactMatch http://identifiers.org/meddra/10061906
property_value: exactMatch http://identifiers.org/mesh/D010229
property_value: exactMatch http://identifiers.org/snomedct/36866003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030409
property_value: exactMatch NCIT:C34891
property_value: exactMatch Orphanet:73260
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis xsd:anyURI {source="GARD:0007323"}

[Term]
id: MONDO:0005895
name: paragonimiasis
def: "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." [NCIT:P378]
subset: gard_rare {source="GARD:0009815"}
synonym: "infection by Paragonimus" EXACT [DOID:10699]
synonym: "lung fluke disease" EXACT [DOID:10699, MTHICD9_2006:121.2]
synonym: "lung fluke infection" EXACT [DOID:10699]
synonym: "Paragonimus westermani caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Paragonimus westermani disease or disorder" EXACT []
synonym: "Paragonimus westermani infection" RELATED [GARD:0009815]
synonym: "Paragonimus westermani infectious disease" EXACT []
synonym: "pulmonary paragonimiasis" EXACT [DOID:10699]
xref: DOID:10699 {source="EFO:0007418", source="MONDO:equivalentTo"}
xref: EFO:0007418 {source="MONDO:equivalentTo"}
xref: GARD:0009815 {source="MONDO:equivalentTo"}
xref: ICD10:B66.4 {source="DOID:10699", source="MONDO:equivalentTo"}
xref: ICD9:121.2 {source="DOID:10699", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010237 {source="DOID:10699", source="EFO:0007418", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84995 {source="DOID:10699", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:30369007 {source="DOID:10699", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
xref: UMLS:C0030424 {source="DOID:10699", source="MONDO:equivalentTo", source="NCIT:C84995"}
is_a: MONDO:0004664 {source="DOID:10699", source="ICD10:B66.4/inferred", source="MESH:D010237/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/240807004
property_value: closeMatch http://identifiers.org/snomedct/240808009
property_value: exactMatch DOID:10699
property_value: exactMatch http://identifiers.org/mesh/D010237
property_value: exactMatch http://identifiers.org/snomedct/30369007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030424
property_value: exactMatch NCIT:C84995
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis xsd:anyURI {source="GARD:0009815"}

[Term]
id: MONDO:0005896
name: Paramyxoviridae infectious disease
def: "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections." [MESH:D018184]
synonym: "Paramyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Paramyxoviridae disease or disorder" EXACT []
xref: EFO:0007419 {source="MONDO:equivalentTo"}
xref: MESH:D018184 {source="MONDO:equivalentTo", source="EFO:0007419"}
is_a: MONDO:0005856 ! Mononegavirales infectious disease
property_value: closeMatch DOID:3056
property_value: exactMatch http://identifiers.org/mesh/D018184

[Term]
id: MONDO:0005897
name: obsolete paratyphoid fever
is_obsolete: true
replaced_by: MONDO:0018626

[Term]
id: MONDO:0005898
name: paronychia (disease)
def: "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." [NCIT:P378]
synonym: "fungal nail infection" EXACT [DOID:13117]
synonym: "infected nailfold" EXACT [DOID:13117]
synonym: "onychia and paronychia of finger" EXACT [DOID:13117]
synonym: "onychia and paronychia of toe" EXACT [DOID:13117]
synonym: "paronychia" EXACT [MONDO:ambiguous]
synonym: "paronychia inflammation" RELATED [DOID:13117]
xref: COHD:137057 {source="MONDO:equivalentTo"}
xref: DOID:13117 {source="MONDO:equivalentTo", source="EFO:0007421"}
xref: EFO:0007421 {source="MONDO:equivalentTo"}
xref: HP:0001818 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L03.0 {source="DOID:13117"}
xref: ICD9:681.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010304 {source="DOID:13117", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007421"}
xref: NCIT:C79702 {source="DOID:13117", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:71906005 {source="DOID:13117", source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0030578 {source="DOID:13117", source="MONDO:equivalentTo", source="NCIT:C79702"}
is_a: MONDO:0002884 {source="DOID:13117", source="MESH:D010304", source="linkedlifedata", source="linkedlifedata/inferred"} ! nail disease
is_a: MONDO:0005093 {source="EFO:0007421", source="MESH:D010304/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156305000
property_value: closeMatch http://identifiers.org/snomedct/200643006
property_value: closeMatch http://identifiers.org/snomedct/267830000
property_value: exactMatch DOID:13117
property_value: exactMatch http://identifiers.org/mesh/D010304
property_value: exactMatch http://identifiers.org/snomedct/71906005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030578
property_value: exactMatch NCIT:C79702

[Term]
id: MONDO:0005899
name: parotid disease
def: "A disease involving the parotid gland." [MONDO:DesignPattern]
synonym: "disease of parotid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of parotid gland" EXACT []
synonym: "disorder of parotid gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of parotid gland" RELATED [MONDO:patterns/location_top]
synonym: "parotid gland disease" EXACT [MONDO:patterns/location]
synonym: "parotid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10302 {source="MONDO:equivalentTo"}
xref: EFO:0007422 {source="MONDO:equivalentTo"}
xref: MESH:D010305 {source="DOID:10302", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0030579 {source="DOID:10302", source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="DOID:10302", source="EFO:0007422", source="MESH:D010305", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disease
is_a: MONDO:0044987 ! face disease
property_value: closeMatch http://identifiers.org/mesh/NoID
property_value: exactMatch DOID:10302
property_value: exactMatch http://identifiers.org/mesh/D010305
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030579

[Term]
id: MONDO:0005900
name: parotitis
def: "Inflammation of the parotid glands." [NCIT:P378]
synonym: "inflammation of parotid gland" EXACT []
synonym: "parotid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10301 {source="EFO:0007423", source="MONDO:equivalentTo"}
xref: EFO:0007423 {source="MONDO:equivalentTo"}
xref: ICD10:K11.2 {source="DOID:10301"}
xref: MESH:D010309 {source="EFO:0007423", source="DOID:10301", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C114281 {source="DOID:10301", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:14756005 {source="DOID:10301", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0030583 {source="DOID:10301", source="MONDO:equivalentTo", source="NCIT:C114281"}
is_a: MONDO:0005899 {source="DOID:10301", source="EFO:0007423", source="MESH:D010309", source="MONDO:Entailed", source="MONDO:Redundant"} ! parotid disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/196481002
property_value: closeMatch http://identifiers.org/snomedct/196484005
property_value: exactMatch DOID:10301
property_value: exactMatch http://identifiers.org/mesh/D010309
property_value: exactMatch http://identifiers.org/snomedct/14756005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030583
property_value: exactMatch NCIT:C114281

[Term]
id: MONDO:0005901
name: pasteurellosis
def: "Infections with bacteria of the genus pasteurella." [MESH:D010326]
synonym: "Pasteurella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pasteurella disease or disorder" EXACT []
synonym: "Pasteurella infection" EXACT [DOID:11055]
synonym: "Pasteurella infectious disease" EXACT [DOID:11055]
xref: COHD:436897 {source="MONDO:equivalentTo"}
xref: DOID:11055 {source="EFO:0007424", source="MONDO:equivalentTo"}
xref: EFO:0007424 {source="MONDO:equivalentTo"}
xref: ICD10:A28.0 {source="MONDO:equivalentTo", source="DOID:11055"}
xref: ICD9:027.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11055"}
xref: MESH:D010326 {source="EFO:0007424", source="MONDO:equivalentTo", source="DOID:11055", source="MONDO:ontobio"}
xref: SCTID:83172007 {source="MONDO:equivalentTo", source="DOID:11055", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030636 {source="MONDO:equivalentTo", source="DOID:11055"}
is_a: MONDO:0005113 {source="DOID:11055/inferred", source="EFO:0007424", source="MESH:D010326/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:11055"} ! primary bacterial infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186328008
property_value: closeMatch http://identifiers.org/snomedct/266086006
property_value: closeMatch http://identifiers.org/snomedct/276199008
property_value: exactMatch DOID:11055
property_value: exactMatch http://identifiers.org/mesh/D010326
property_value: exactMatch http://identifiers.org/snomedct/83172007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030636

[Term]
id: MONDO:0005902
name: peanut allergic reaction
def: "Allergic reaction to peanuts that is triggered by the immune system." [MESH:D021183]
synonym: "allergy to peanuts" EXACT [DOID:4378]
synonym: "nut allergic reaction of pigmented ciliary epithelial cell" EXACT [MONDO:design_pattern]
synonym: "peanut allergic reaction" EXACT [DOID:4378]
synonym: "peanut allergy" RELATED [DOID:4378]
synonym: "pigmented ciliary epithelial cell nut allergic reaction" EXACT [MONDO:patterns/location]
xref: COHD:4240902 {source="MONDO:equivalentTo"}
xref: DOID:4378 {source="EFO:0007425", source="MONDO:equivalentTo"}
xref: EFO:0007425 {source="MONDO:equivalentTo"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D021183 {source="DOID:4378", source="EFO:0007425", source="MONDO:equivalentTo"}
xref: SCTID:91935009 {source="DOID:4378", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0559470 {source="DOID:4378", source="MONDO:equivalentTo"}
is_a: MONDO:0006872 {source="DOID:4378", source="MONDO:Entailed", source="MONDO:Redundant"} ! nut allergic reaction
property_value: closeMatch http://identifiers.org/snomedct/213021008
property_value: exactMatch DOID:4378
property_value: exactMatch http://identifiers.org/mesh/D021183
property_value: exactMatch http://identifiers.org/snomedct/91935009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559470

[Term]
id: MONDO:0005903
name: pericardial tuberculosis
def: "inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." [MESH:D010495]
synonym: "tuberculous pericarditis" EXACT [DOID:4962]
xref: DOID:4962 {source="EFO:0007426", source="MONDO:equivalentTo"}
xref: EFO:0007426 {source="MONDO:equivalentTo"}
xref: ICD10:A18.84 {source="DOID:4962"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010495 {source="DOID:4962", source="EFO:0007426", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:67256000 {source="MONDO:kboom-pr-1.00/0.80/9.48", source="DOID:4962", source="MONDO:equivalentTo"}
xref: UMLS:C0031049 {source="DOID:4962", source="MONDO:equivalentTo"}
is_a: MONDO:0000368 {source="DOID:4962"} ! extrapulmonary tuberculosis
is_a: MONDO:0005904 ! pericarditis (disease)
property_value: exactMatch DOID:4962
property_value: exactMatch http://identifiers.org/mesh/D010495
property_value: exactMatch http://identifiers.org/snomedct/67256000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031049

[Term]
id: MONDO:0005904
name: pericarditis (disease)
def: "An inflammatory process affecting the pericardium." [NCIT:P378]
synonym: "inflammation of pericardium" EXACT []
synonym: "pericarditis" EXACT [MONDO:ambiguous]
synonym: "pericardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1787 {source="EFO:0007427", source="MONDO:equivalentTo"}
xref: EFO:0007427 {source="MONDO:equivalentTo"}
xref: HP:0001701 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D010493 {source="EFO:0007427", source="MONDO:equivalentTo", source="DOID:1787", source="MONDO:ontobio"}
xref: NCIT:C34915 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:1787"}
xref: SCTID:3238004 {source="MONDO:equivalentTo", source="DOID:1787", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0031046 {source="NCIT:C34915", source="MONDO:equivalentTo", source="DOID:1787"}
is_a: MONDO:0000474 {source="DOID:1787", source="MONDO:Redundant", source="linkedlifedata"} ! pericardium disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch DOID:1787
property_value: exactMatch http://identifiers.org/mesh/D010493
property_value: exactMatch http://identifiers.org/snomedct/3238004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031046
property_value: exactMatch NCIT:C34915

[Term]
id: MONDO:0005905
name: periodic limb movement disorder
def: "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" [MESH:D020189]
synonym: "nocturnal myoclonus" EXACT [DOID:9207]
xref: DOID:9207 {source="MONDO:equivalentTo", source="EFO:0007428"}
xref: EFO:0007428 {source="MONDO:equivalentTo"}
xref: ICD10:G47.61 {source="DOID:9207", source="MONDO:equivalentTo"}
xref: ICD9:327.51 {source="DOID:9207", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:418763003 {source="DOID:9207", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0751774 {source="DOID:9207", source="MONDO:equivalentTo"}
is_a: MONDO:0003406 {source="DOID:9207", source="ICD10:G47.61", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0007428"} ! mental disorder
property_value: closeMatch http://identifiers.org/mesh/D020189
property_value: exactMatch DOID:9207
property_value: exactMatch http://identifiers.org/snomedct/418763003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751774

[Term]
id: MONDO:0005906
name: peritonsillar abscess
def: "An abscess that develops in the space surrounding one or both palatine tonsils." [NCIT:C128322]
synonym: "quinsy" EXACT [NCIT:C128322]
xref: COHD:440751 {source="MONDO:equivalentTo"}
xref: EFO:0007429 {source="MONDO:equivalentTo"}
xref: ICD10:J36 {source="MONDO:equivalentTo"}
xref: ICD9:475 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000039 {source="EFO:0007429", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128322 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:15033003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: UMLS:C0031157 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C128322", source="MONDO:equivalentTo"}
is_a: MONDO:0005227 {source="MESH:D000039", source="MONDO:Redundant", source="NCIT:C128322", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0043424 ! digestive system infectious disease
is_a: MONDO:0044986 ! lymphoid system disease
property_value: closeMatch DOID:12765
property_value: exactMatch http://identifiers.org/mesh/D000039
property_value: exactMatch http://identifiers.org/snomedct/15033003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031157
property_value: exactMatch NCIT:C128322

[Term]
id: MONDO:0005907
name: persian gulf syndrome
def: "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" [MESH:D018923]
synonym: "Gulf war syndrome" EXACT [DOID:4491]
xref: DOID:4491 {source="MONDO:equivalentTo", source="EFO:0007430"}
xref: EFO:0007430 {source="MONDO:equivalentTo"}
xref: ICD9:300.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018923 {source="MONDO:equivalentTo", source="DOID:4491", source="MONDO:ontobio", source="EFO:0007430"}
xref: SCTID:95877004 {source="MONDO:equivalentTo", source="DOID:4491", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282550 {source="MONDO:equivalentTo", source="DOID:4491"}
is_a: MONDO:0002254 {source="DOID:4491", source="MONDOLEX:0005907"} ! syndromic disease
property_value: exactMatch DOID:4491
property_value: exactMatch http://identifiers.org/mesh/D018923
property_value: exactMatch http://identifiers.org/snomedct/95877004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282550

[Term]
id: MONDO:0005908
name: peste des petits ruminants infectious disease
def: "A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." [MESH:D029021]
synonym: "Peste des petits ruminants" RELATED [MESH:D029021]
synonym: "Pseudorinderpest" RELATED [MESH:D029021]
synonym: "Small ruminant morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Small ruminant morbillivirus disease or disorder" EXACT []
synonym: "Small ruminant morbillivirus infectious disease" EXACT []
xref: EFO:0007431 {source="MONDO:equivalentTo"}
xref: MESH:D029021 {source="MONDO:equivalentTo", source="EFO:0007431"}
xref: UMLS:C0949885 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D029021"} ! non-human animal disease
is_a: MONDO:0005857 ! morbillivirus infectious disease
property_value: closeMatch DOID:3532
property_value: exactMatch http://identifiers.org/mesh/D029021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949885

[Term]
id: MONDO:0005909
name: pestivirus infectious disease
def: "Infections with viruses of the genus pestivirus, family flaviviridae." [MESH:D018182]
synonym: "infection, Pestivirus" RELATED [MESH:D018182]
synonym: "infections, Pestivirus" RELATED [MESH:D018182]
synonym: "Pestivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pestivirus disease or disorder" EXACT []
synonym: "Pestivirus infection" RELATED [MESH:D018182]
synonym: "Pestivirus infectious disease" EXACT []
xref: EFO:0007432 {source="MONDO:equivalentTo"}
xref: MESH:D018182 {source="MONDO:equivalentTo", source="EFO:0007432"}
xref: UMLS:C0206611 {source="MONDO:equivalentTo"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
property_value: closeMatch DOID:4274
property_value: exactMatch http://identifiers.org/mesh/D018182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206611

[Term]
id: MONDO:0005910
name: phagocyte bactericidal dysfunction
def: "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." [MESH:D010585]
comment: Editor note: consider merging
synonym: "phagocytic dysfunction" EXACT [CSP2005:0427-7579, DOID:3262]
xref: DOID:3262 {source="EFO:0007433", source="MONDO:equivalentTo"}
xref: EFO:0007433 {source="MONDO:equivalentTo"}
xref: MESH:D010585 {source="EFO:0007433", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3262"}
xref: UMLS:C0031306 {source="MONDO:equivalentTo", source="DOID:3262"}
is_a: MONDO:0003778 {source="DOID:3262", source="MESH:D010585"} ! primary immunodeficiency disease
is_a: MONDO:0004805 {source="MESH:D010585"} ! leukocyte disease
is_a: MONDO:0024627 ! phagocytic cell dysfunction
property_value: exactMatch DOID:3262
property_value: exactMatch http://identifiers.org/mesh/D010585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031306

[Term]
id: MONDO:0005911
name: pharyngoconjunctival fever
def: "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." [NCIT:C34924]
synonym: "Adenoviral pharyngoconjunctivitis" EXACT [DOID:13801]
synonym: "pharyngo-conjunctival fever" EXACT [DOID:13801]
synonym: "pharyngoconjunctival fever" EXACT [DOID:13801, ICD9CM_2006:077.2, NCIT:C34924]
xref: DOID:13801 {source="EFO:0007434", source="MONDO:equivalentTo"}
xref: EFO:0007434 {source="MONDO:equivalentTo"}
xref: ICD9:077.2 {source="DOID:13801", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000258 {source="EFO:0007434", source="DOID:13801", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34924 {source="DOID:13801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:70385007 {source="DOID:13801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031351 {source="NCIT:C34924", source="DOID:13801", source="MONDO:equivalentTo"}
is_a: MONDO:0043479 ! adenoviridae infectious disease
relationship: disease_has_feature MONDO:0002258 ! pharyngitis
relationship: disease_has_feature MONDO:0003799 ! conjunctivitis (disease)
property_value: exactMatch DOID:13801
property_value: exactMatch http://identifiers.org/mesh/D000258
property_value: exactMatch http://identifiers.org/snomedct/70385007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031351
property_value: exactMatch NCIT:C34924

[Term]
id: MONDO:0005912
name: phencyclidine abuse
def: "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." [MESH:D010623]
synonym: "PCP abuse" EXACT [DOID:5062]
synonym: "phencyclidine abuse" EXACT [DOID:5062, MTHICD9_2006:305.9]
xref: DOID:5062 {source="EFO:0007436", source="MONDO:equivalentTo"}
xref: EFO:0007436 {source="MONDO:equivalentTo"}
xref: ICD9:305.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010623 {source="EFO:0007436", source="MONDO:equivalentTo", source="DOID:5062", source="MONDO:ontobio"}
xref: SCTID:7071007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.88/21.61", source="DOID:5062"}
is_a: MONDO:0002491 {source="DOID:5062", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse
is_a: MONDO:0005303 {source="EFO:0007436"} ! drug dependence
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031391
property_value: exactMatch DOID:5062
property_value: exactMatch http://identifiers.org/mesh/D010623
property_value: exactMatch http://identifiers.org/snomedct/7071007

[Term]
id: MONDO:0005913
name: phlebotomus fever
def: "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." [MESH:D010217]
synonym: "pappataci fever" EXACT [DOID:11360]
synonym: "Sandfly fever" EXACT [DOID:11360]
synonym: "Sandfly-borne arboviral fever" EXACT [DOID:11360]
synonym: "Sandfly-borne Bunyavirus fever" EXACT [DOID:11360]
synonym: "Sandfly-borne phleboviral disease" EXACT [DOID:11360]
xref: DOID:11360 {source="EFO:0007437", source="MONDO:equivalentTo"}
xref: EFO:0007437 {source="MONDO:equivalentTo"}
xref: ICD10:A93.1 {source="MONDO:equivalentTo", source="DOID:11360"}
xref: ICD9:066.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11360"}
xref: MESH:D010217 {source="EFO:0007437", source="MONDO:equivalentTo", source="DOID:11360", source="MONDO:ontobio"}
xref: SCTID:407476002 {source="MONDO:equivalentTo", source="DOID:11360", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030372 {source="MONDO:equivalentTo", source="DOID:11360"}
is_a: MONDO:0005108 {source="DOID:11360", source="EFO:0007437", source="MESH:D010217/inferred", source="MONDO:Redundant", source="MONDOLEX:0005913", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/186605002
property_value: closeMatch http://identifiers.org/snomedct/186606001
property_value: closeMatch http://identifiers.org/snomedct/240517002
property_value: closeMatch http://identifiers.org/snomedct/240518007
property_value: closeMatch http://identifiers.org/snomedct/33670001
property_value: exactMatch DOID:11360
property_value: exactMatch http://identifiers.org/mesh/D010217
property_value: exactMatch http://identifiers.org/snomedct/407476002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030372

[Term]
id: MONDO:0005914
name: Picornaviridae infectious disease
def: "Virus diseases caused by the picornaviridae." [MESH:D010850]
synonym: "infections, Picornaviridae" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Picornaviridae infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: EFO:0007438 {source="MONDO:equivalentTo"}
xref: MESH:D010850 {source="EFO:0007438", source="MONDO:equivalentTo"}
xref: UMLS:C0031887 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007438", source="MESH:D010850/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:3668
property_value: exactMatch http://identifiers.org/mesh/D010850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031887

[Term]
id: MONDO:0005915
name: pityriasis versicolor
def: "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." [NCIT:C82981]
synonym: "infection by Pityrosporum furfur" EXACT [DOID:9060, MTHICD9_2006:111.0]
synonym: "infections, Malassezia furfur" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Malassezia furfur infection" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK7902, MONDO:patterns/infectious_disease_by_agent, NCIT:C82981]
synonym: "tinea flava" RELATED []
synonym: "tinea versicolor" RELATED [MESH:D014010]
xref: COHD:134870 {source="MONDO:equivalentTo"}
xref: DOID:9060 {source="MONDO:equivalentTo", source="EFO:0007439"}
xref: EFO:0007439 {source="MONDO:equivalentTo"}
xref: ICD10:B36.0 {source="DOID:9060", source="MONDO:equivalentTo"}
xref: ICD9:111.0 {source="DOID:9060", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014010 {source="DOID:9060", source="MONDO:equivalentTo", source="EFO:0007439", source="MONDO:ontobio"}
xref: NCIT:C82981 {source="DOID:9060", source="MONDO:equivalentTo"}
xref: SCTID:56454009 {source="DOID:9060", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.08"}
xref: UMLS:C0040262 {source="DOID:9060", source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
is_a: MONDO:0024268 {source="DOID:9060", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: closeMatch http://identifiers.org/snomedct/154395007
property_value: closeMatch NCIT:C112833
property_value: exactMatch DOID:9060
property_value: exactMatch http://identifiers.org/mesh/D014010
property_value: exactMatch http://identifiers.org/snomedct/56454009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040262
property_value: exactMatch NCIT:C82981

[Term]
id: MONDO:0005916
name: placenta accreta
def: "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" [NCIT:C26856]
synonym: "accreta, placenta" RELATED [MESH:D010921]
synonym: "Increta, placenta" RELATED [MESH:D010921]
synonym: "Percreta, placenta" RELATED [MESH:D010921]
synonym: "placenta Increta" RELATED [MESH:D010921]
synonym: "placenta Percreta" RELATED [MESH:D010921]
xref: DOID:4744 {source="MONDO:equivalentTo", source="EFO:0007440"}
xref: EFO:0007440 {source="MONDO:equivalentTo"}
xref: ICD10:O43.21 {source="DOID:4744"}
xref: MESH:D010921 {source="MONDO:equivalentTo", source="DOID:4744", source="MONDO:ontobio", source="EFO:0007440"}
xref: NCIT:C26856 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4744"}
xref: SCTID:70129008 {source="MONDO:equivalentTo", source="DOID:4744", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005917 {source="DOID:4744", source="EFO:0007440", source="MESH:D010921", source="NCIT:C26856/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! placenta disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032044
property_value: exactMatch DOID:4744
property_value: exactMatch http://identifiers.org/mesh/D010921
property_value: exactMatch http://identifiers.org/snomedct/70129008
property_value: exactMatch NCIT:C26856

[Term]
id: MONDO:0005917
name: placenta disease
def: "A disease involving the placenta." [MONDO:DesignPattern]
synonym: "disease of placenta" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of placenta" EXACT []
synonym: "disease, placenta" RELATED [MESH:D010922]
synonym: "disease, placental" RELATED [MESH:D010922]
synonym: "diseases, placenta" RELATED [MESH:D010922]
synonym: "diseases, placental" RELATED [MESH:D010922]
synonym: "disorder of placenta" EXACT [MONDO:patterns/location_top]
synonym: "disorder of placenta" RELATED [MONDO:patterns/location_top]
synonym: "disorder, placenta" RELATED [MESH:D010922]
synonym: "disorders, placenta" RELATED [MESH:D010922]
synonym: "placenta disease" EXACT [MESH:D010922, MONDO:patterns/location]
synonym: "placenta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "placenta diseases" EXACT [NCIT:C26857]
synonym: "placenta disorder" EXACT [MESH:D010922, NCIT:C26857]
synonym: "placenta disorders" EXACT [MESH:D010922, NCIT:C26857]
synonym: "placental disease" RELATED [MESH:D010922]
synonym: "placental diseases" RELATED [MESH:D010922]
synonym: "placental disorder" EXACT [NCIT:C26857]
xref: DOID:780 {source="MONDO:equivalentTo"}
xref: EFO:0007441 {source="MONDO:equivalentTo"}
xref: GARD:0007402 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:O43 {source="DOID:780"}
xref: ICD10:O43.9 {source="DOID:780"}
xref: ICD10:O43.90 {source="DOID:780"}
xref: ICD9:646.9 {source="DOID:780"}
xref: ICD9:656.70 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010922 {source="MONDO:equivalentTo", source="DOID:780", source="MONDO:ontobio"}
xref: NCIT:C26857 {source="MONDO:equivalentTo", source="DOID:780", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:125586008 {source="MONDO:equivalentTo", source="DOID:780"}
is_a: MONDO:0002654 {source="DOID:780"} ! uterine disease
is_a: MONDO:0024575 {source="MESH:D010922", source="NCIT:C26857", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pregnancy disorder
property_value: closeMatch http://identifiers.org/mesh/NoID
property_value: closeMatch http://identifiers.org/snomedct/156069003
property_value: closeMatch http://identifiers.org/snomedct/156097009
property_value: closeMatch http://identifiers.org/snomedct/156123001
property_value: closeMatch http://identifiers.org/snomedct/156131006
property_value: closeMatch http://identifiers.org/snomedct/172422001
property_value: closeMatch http://identifiers.org/snomedct/198881004
property_value: closeMatch http://identifiers.org/snomedct/199152008
property_value: closeMatch http://identifiers.org/snomedct/23288008
property_value: closeMatch http://identifiers.org/snomedct/267293009
property_value: closeMatch http://identifiers.org/snomedct/267311008
property_value: closeMatch http://identifiers.org/snomedct/267314000
property_value: closeMatch http://identifiers.org/snomedct/90821003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032045
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032962
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151864
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335423
property_value: closeMatch NCIT:C27619
property_value: exactMatch DOID:780
property_value: exactMatch http://identifiers.org/mesh/D010922
property_value: exactMatch http://identifiers.org/snomedct/125586008
property_value: exactMatch NCIT:C26857
property_value: exactMatch NCIT:C34941

[Term]
id: MONDO:0005918
name: placenta praevia
def: "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." [MESH:D010923]
synonym: "placenta praevia" EXACT [MESH:D010923]
synonym: "placenta previa" EXACT [NCIT:C26858]
xref: DOID:11060 {source="MONDO:equivalentTo", source="EFO:0007442"}
xref: EFO:0007442 {source="MONDO:equivalentTo"}
xref: ICD10:O44 {source="DOID:11060"}
xref: MESH:D010923 {source="DOID:11060", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007442"}
xref: NCIT:C26858 {source="DOID:11060", source="MONDO:equivalentTo"}
xref: SCTID:36813001 {source="DOID:11060", source="MONDO:equivalentTo"}
is_a: MONDO:0005917 {source="DOID:11060", source="EFO:0007442", source="MESH:D010923", source="NCIT:C26858/inferred", source="linkedlifedata/inferred"} ! placenta disease
property_value: closeMatch http://identifiers.org/snomedct/157059004
property_value: closeMatch http://identifiers.org/snomedct/198930005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032046
property_value: exactMatch DOID:11060
property_value: exactMatch http://identifiers.org/mesh/D010923
property_value: exactMatch http://identifiers.org/snomedct/36813001
property_value: exactMatch NCIT:C26858

[Term]
id: MONDO:0005919
name: placental insufficiency
def: "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." [MESH:D010927]
subset: ordo_clinical_syndrome {source="Orphanet:439167"}
synonym: "insufficiency, placental" RELATED [MESH:D010927]
synonym: "uteroplacental vascular insufficiency" EXACT [Orphanet:439167]
xref: DOID:3891 {source="MONDO:equivalentTo", source="EFO:0007443"}
xref: EFO:0007443 {source="MONDO:equivalentTo"}
xref: ICD10:O36.5 {source="ORDO:439167/ntbt", source="Orphanet:439167"}
xref: ICD9:762.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010927 {source="DOID:3891", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007443"}
xref: Orphanet:439167 {source="MONDO:equivalentTo"}
xref: SCTID:237292005 {source="DOID:3891", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032051 {source="DOID:3891", source="MONDO:equivalentTo", source="Orphanet:439167"}
is_a: MONDO:0005917 {source="DOID:3891", source="EFO:0007443", source="MESH:D010927", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! placenta disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156185006
property_value: closeMatch http://identifiers.org/snomedct/199610002
property_value: closeMatch http://identifiers.org/snomedct/267337006
property_value: exactMatch DOID:3891
property_value: exactMatch http://identifiers.org/mesh/D010927
property_value: exactMatch http://identifiers.org/snomedct/237292005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032051
property_value: exactMatch Orphanet:439167

[Term]
id: MONDO:0005920
name: Plasmodium falciparum malaria
def: "Malaria resulting from infection by Plasmodium falciparum." [NCIT:P378]
synonym: "falciparum malaria" EXACT [DOID:14067, NCIT:C34798]
synonym: "falciparum malaria [malignant tertian]" EXACT [DOID:14067, ICD9CM_2006:084.0]
synonym: "malaria fever, subtertian" EXACT [DOID:14067, MTHICD9_2006:084.0]
synonym: "malignant tertian fever" EXACT [DOID:14067]
synonym: "malignant tertian fever (finding)" EXACT [DOID:14067]
synonym: "Plasmodium falciparum malaria, unspecified" EXACT [DOID:14067]
xref: COHD:438343 {source="MONDO:equivalentTo"}
xref: DOID:14067 {source="EFO:0007444", source="MONDO:equivalentTo"}
xref: EFO:0007444 {source="MONDO:equivalentTo"}
xref: ICD10:B50 {source="DOID:14067"}
xref: ICD10:B50.9 {source="DOID:14067"}
xref: ICD9:084.0 {source="MONDO:equivalentTo", source="DOID:14067", source="i2s"}
xref: ICD9:084.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016778 {source="EFO:0007444", source="MONDO:equivalentTo", source="DOID:14067", source="MONDO:ontobio"}
xref: NCIT:C34798 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:14067"}
xref: SCTID:62676009 {source="MONDO:equivalentTo", source="DOID:14067", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0024535 {source="MONDO:equivalentTo", source="DOID:14067", source="NCIT:C34798"}
is_a: MONDO:0005136 {source="DOID:14067", source="EFO:0007444", source="MESH:D016778", source="MONDO:Redundant", source="NCIT:C34798", source="linkedlifedata"} ! malaria
property_value: closeMatch http://identifiers.org/snomedct/186802002
property_value: closeMatch http://identifiers.org/snomedct/187504004
property_value: closeMatch http://identifiers.org/snomedct/248441000
property_value: exactMatch DOID:14067
property_value: exactMatch http://identifiers.org/mesh/D016778
property_value: exactMatch http://identifiers.org/snomedct/62676009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024535
property_value: exactMatch NCIT:C34798

[Term]
id: MONDO:0005921
name: Plasmodium vivax malaria
def: "Malaria resulting from infection by Plasmodium vivax." [NCIT:P378]
synonym: "malaria by Plasmodium vivax" EXACT [DOID:12978, MTHICD9_2006:084.1]
synonym: "vivax malaria" EXACT [DOID:12978, NCIT:C34800]
xref: COHD:433960 {source="MONDO:equivalentTo"}
xref: DOID:12978 {source="EFO:0007445", source="MONDO:equivalentTo"}
xref: EFO:0007445 {source="MONDO:equivalentTo"}
xref: ICD10:B51 {source="DOID:12978", source="MONDO:equivalentTo"}
xref: ICD10:B51.9 {source="DOID:12978"}
xref: ICD9:084.1 {source="DOID:12978", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016780 {source="EFO:0007445", source="DOID:12978", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34800 {source="DOID:12978", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:27052006 {source="DOID:12978", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0024537 {source="DOID:12978", source="MONDO:equivalentTo", source="NCIT:C34800"}
is_a: MONDO:0005136 {source="DOID:12978", source="EFO:0007445", source="MESH:D016780", source="MONDO:Redundant", source="NCIT:C34800", source="linkedlifedata"} ! malaria
property_value: exactMatch DOID:12978
property_value: exactMatch http://identifiers.org/mesh/D016780
property_value: exactMatch http://identifiers.org/snomedct/27052006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024537
property_value: exactMatch NCIT:C34800

[Term]
id: MONDO:0005922
name: pleural tuberculosis
def: "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." [NCIT:P378]
synonym: "pearly disease" EXACT [DOID:106]
synonym: "pleura tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of pleura" EXACT [DOID:106]
synonym: "tuberculous pleurisy" EXACT [DOID:106, ICD9CM_2006:012.0]
synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [DOID:106]
synonym: "tuberculous pleuritis" EXACT [DOID:106]
xref: DOID:106 {source="EFO:0007446", source="MONDO:equivalentTo"}
xref: EFO:0007446 {source="MONDO:equivalentTo"}
xref: ICD10:A15.6 {source="DOID:106", source="MONDO:equivalentTo"}
xref: ICD9:010.1 {source="DOID:106"}
xref: ICD9:010.10 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:010.12 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:010.16 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:012.0 {source="DOID:106"}
xref: ICD9:012.00 {source="DOID:106"}
xref: MESH:D014396 {source="DOID:106", source="EFO:0007446", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26898 {source="DOID:106", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:186172004 {source="DOID:106", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0000368 {source="DOID:106"} ! extrapulmonary tuberculosis
is_a: MONDO:0000986 {source="NCIT:C26898", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleurisy
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: closeMatch http://identifiers.org/snomedct/170713008
property_value: closeMatch http://identifiers.org/snomedct/171699006
property_value: closeMatch http://identifiers.org/snomedct/186182003
property_value: closeMatch http://identifiers.org/snomedct/186183008
property_value: closeMatch http://identifiers.org/snomedct/186186000
property_value: closeMatch http://identifiers.org/snomedct/36379004
property_value: closeMatch http://identifiers.org/snomedct/68706009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041326
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152531
property_value: exactMatch DOID:106
property_value: exactMatch http://identifiers.org/mesh/D014396
property_value: exactMatch http://identifiers.org/snomedct/186172004
property_value: exactMatch NCIT:C26898

[Term]
id: MONDO:0005923
name: Pneumocystis infectious disease
def: "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." [MESH:D016720]
synonym: "infections, Pneumocystis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pneumocystis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: EFO:0007447 {source="MONDO:equivalentTo"}
xref: MESH:D016720 {source="EFO:0007447", source="MONDO:equivalentTo"}
xref: UMLS:C0851886 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 ! fungal infectious disease
property_value: closeMatch DOID:11340
property_value: exactMatch http://identifiers.org/mesh/D016720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851886

[Term]
id: MONDO:0005924
name: obsolete pneumocystosis
is_obsolete: true
replaced_by: MONDO:0019121

[Term]
id: MONDO:0005925
name: pneumonic pasteurellosis
def: "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." [MESH:D012766]
xref: EFO:0007449 {source="MONDO:equivalentTo"}
xref: MESH:D012766 {source="EFO:0007449", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0036969 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:0007449", source="MESH:D012766/inferred"} ! bacterial infectious disease
property_value: closeMatch DOID:3730
property_value: exactMatch http://identifiers.org/mesh/D012766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036969

[Term]
id: MONDO:0005926
name: obsolete poliomyelitis
is_obsolete: true
replaced_by: MONDO:0017373

[Term]
id: MONDO:0005927
name: polyomavirus infectious disease
def: "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal)." [MESH:D027601]
xref: EFO:0007451 {source="MONDO:equivalentTo"}
xref: MESH:D027601 {source="MONDO:equivalentTo", source="EFO:0007451"}
xref: UMLS:C0949804 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007451", source="MESH:D027601/inferred"} ! viral infectious disease
property_value: closeMatch DOID:647
property_value: exactMatch http://identifiers.org/mesh/D027601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949804

[Term]
id: MONDO:0005928
name: post-thrombotic syndrome
def: "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." [MESH:D011186]
synonym: "postphlebetic syndrome with inflammation" EXACT [DOID:2364]
synonym: "postphlebetic syndrome with ulcer" EXACT [DOID:2364]
synonym: "postphlebetic syndrome with ulcer and inflammation" EXACT [DOID:2364]
synonym: "postphlebitic syndrome" EXACT [DOID:2364]
synonym: "venous stress disorder" EXACT [DOID:2364]
xref: DOID:2364 {source="MONDO:equivalentTo", source="EFO:0007452"}
xref: EFO:0007452 {source="MONDO:equivalentTo"}
xref: ICD10:I87.0 {source="DOID:2364", source="MONDO:equivalentTo"}
xref: ICD9:459.1 {source="DOID:2364", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:459.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:459.11 {source="DOID:2364"}
xref: ICD9:459.12 {source="DOID:2364"}
xref: ICD9:459.13 {source="DOID:2364"}
xref: MESH:D011186 {source="DOID:2364", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007452"}
xref: SCTID:20427003 {source="DOID:2364", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.58"}
is_a: MONDO:0000945 {source="DOID:2364", source="MESH:D011186", source="linkedlifedata", source="linkedlifedata/inferred"} ! venous insufficiency (disease)
property_value: closeMatch http://identifiers.org/snomedct/155460004
property_value: closeMatch http://identifiers.org/snomedct/410013001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032807
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1135219
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1135220
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1135221
property_value: exactMatch DOID:2364
property_value: exactMatch http://identifiers.org/mesh/D011186
property_value: exactMatch http://identifiers.org/snomedct/20427003

[Term]
id: MONDO:0005929
name: postpartum depression
def: "A type of clinical depression that occurs after childbirth." [NCIT:P378]
synonym: "depression, post-Natal" RELATED [MESH:D019052]
synonym: "depression, post-partum" RELATED [MESH:D019052]
synonym: "depression, postnatal" RELATED [MESH:D019052]
synonym: "depressive episode with postpartum onset" EXACT [NCIT:C92852]
synonym: "major depressive episode with peripartum onset" EXACT [NCIT:C92852]
synonym: "maternity blues" EXACT [DOID:9478]
synonym: "post Natal depression" RELATED [MESH:D019052]
synonym: "post partum depression" RELATED [MESH:D019052]
synonym: "post-Natal depression" RELATED [MESH:D019052]
synonym: "post-partum depression" RELATED [MESH:D019052]
synonym: "postnatal depression" EXACT [CSP2005:5003-0032, DOID:9478, MESH:D019052]
synonym: "postpartum depression" EXACT [MESH:D019052]
xref: DOID:9478 {source="MONDO:equivalentTo", source="EFO:0007453"}
xref: EFO:0007453 {source="MONDO:equivalentTo"}
xref: ICD10:F53 {source="MONDO:relatedTo", source="DOID:9478"}
xref: MESH:D019052 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9478", source="EFO:0007453"}
xref: NCIT:C92852 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:9478"}
xref: SCTID:279225001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0002050 {source="DOID:9478/inferred", source="MESH:D019052", source="NCIT:C92852", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! depressive disorder
relationship: excluded_subClassOf MONDO:0012048 {source="DOID:9478"} ! endogenous depression
property_value: closeMatch http://identifiers.org/snomedct/147016002
property_value: closeMatch http://identifiers.org/snomedct/154889000
property_value: closeMatch http://identifiers.org/snomedct/191740008
property_value: closeMatch http://identifiers.org/snomedct/192475007
property_value: closeMatch http://identifiers.org/snomedct/268753005
property_value: closeMatch http://identifiers.org/snomedct/58703003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221074
property_value: exactMatch DOID:9478
property_value: exactMatch http://identifiers.org/mesh/D019052
property_value: exactMatch http://identifiers.org/snomedct/279225001
property_value: exactMatch NCIT:C92852

[Term]
id: MONDO:0005930
name: obsolete postpoliomyelitis syndrome
is_obsolete: true
replaced_by: MONDO:0017416

[Term]
id: MONDO:0005931
name: obsolete progressive multifocal leukoencephalopathy
is_obsolete: true
replaced_by: MONDO:0016318

[Term]
id: MONDO:0005932
name: pseudorabies
def: "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." [MESH:D011557]
xref: EFO:0007457 {source="MONDO:equivalentTo"}
xref: MESH:D011557 {source="EFO:0007457", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0033839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007457", source="MESH:D011557/inferred"} ! viral infectious disease
property_value: closeMatch DOID:3902
property_value: exactMatch http://identifiers.org/mesh/D011557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033839

[Term]
id: MONDO:0005933
name: pulmonary blastoma
def: "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." [NCIT:C3732]
subset: ordo_disease {source="Orphanet:64741"}
synonym: "blastoma of lung" EXACT [DOID:4765, NCIT:C3732]
synonym: "blastoma of the lung" EXACT [NCIT:C3732]
synonym: "lung blastoma" EXACT [MONDO:patterns/location, NCIT:C3732]
synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741]
synonym: "pulmonary blastoma" EXACT [NCIT:C3732]
xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"}
xref: EFO:0007458 {source="MONDO:equivalentTo"}
xref: ICD10:C34.1 {source="Orphanet:64741", source="ORDO:64741/nd"}
xref: ICD10:C34.2 {source="Orphanet:64741", source="ORDO:64741/nd"}
xref: ICD10:C34.3 {source="Orphanet:64741", source="ORDO:64741/nd"}
xref: ICD10:C34.8 {source="Orphanet:64741", source="ORDO:64741/nd"}
xref: ICD10:C34.9 {source="Orphanet:64741", source="ORDO:64741/nd"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8972/3 {source="NCIT:C3732"}
xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:64741/e"}
xref: NCIT:C3732 {source="DOID:4765", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:64741 {source="MONDO:equivalentTo"}
xref: SCTID:189815007 {source="DOID:4765", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0206629 {source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="NCIT:C3732", source="ORDO:64741/e"}
is_a: MONDO:0005565 {source="DOID:4765", source="MONDO:Redundant", source="NCIT:C3732"} ! blastoma
is_a: MONDO:0006279 {source="NCIT:C3732"} ! lung sarcomatoid carcinoma
is_a: MONDO:0015119 {source="Orphanet:64741"} ! bronchopulmonary tumor
property_value: closeMatch http://identifiers.org/snomedct/43149009
property_value: exactMatch DOID:4765
property_value: exactMatch http://identifiers.org/mesh/D018202
property_value: exactMatch http://identifiers.org/snomedct/189815007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206629
property_value: exactMatch NCIT:C3732
property_value: exactMatch Orphanet:64741

[Term]
id: MONDO:0005934
name: obsolete pyruvate decarboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0019169

[Term]
id: MONDO:0005935
name: obsolete reactive arthritis
is_obsolete: true
replaced_by: MONDO:0017376

[Term]
id: MONDO:0005936
name: recurrent pneumonia (disease)
def: "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." [MESH:D009165]
synonym: "recurrent pneumonia" EXACT [MONDO:ambiguous]
xref: EFO:0007461 {source="MONDO:equivalentTo"}
xref: HP:0006532 {source="MONDO:otherHierarchy", source="ontobio"}
xref: SCTID:699014000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005249 {source="EFO:0007461", source="linkedlifedata"} ! pneumonia
property_value: closeMatch DOID:412
property_value: closeMatch http://identifiers.org/mesh/D009165
property_value: exactMatch http://identifiers.org/snomedct/699014000

[Term]
id: MONDO:0005937
name: REM sleep behavior disorder
def: "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" [MESH:D020187]
synonym: "rapid eye movement sleep behavior disorder" EXACT [DOID:9091]
xref: DOID:9091 {source="MONDO:equivalentTo", source="EFO:0007462"}
xref: EFO:0007462 {source="MONDO:equivalentTo"}
xref: ICD10:G47.52 {source="DOID:9091", source="MONDO:equivalentTo"}
xref: ICD9:327.42 {source="DOID:9091", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:780.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020187 {source="DOID:9091", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007462"}
xref: SCTID:415238003 {source="DOID:9091", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003406 {source="DOID:9091", source="EFO:0007462", source="ICD10:G47.52", source="MESH:D020187/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder
is_a: MONDO:0005084 {source="EFO:0007462", source="EFO:0007462/inferred"} ! mental disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751772
property_value: exactMatch DOID:9091
property_value: exactMatch http://identifiers.org/mesh/D020187
property_value: exactMatch http://identifiers.org/snomedct/415238003

[Term]
id: MONDO:0005938
name: renal tuberculosis
def: "Infection of the kidney due to mycobacteria." [NCIT:P378]
synonym: "kidney tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of kidney" EXACT [DOID:9733, ICD9CM_2006:016.0]
xref: COHD:193955 {source="MONDO:equivalentTo"}
xref: DOID:9733 {source="MONDO:equivalentTo", source="EFO:0007463"}
xref: EFO:0007463 {source="MONDO:equivalentTo"}
xref: ICD9:016.0 {source="DOID:9733"}
xref: ICD9:016.00 {source="DOID:9733", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014398 {source="DOID:9733", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007463"}
xref: NCIT:C123020 {source="DOID:9733", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:44323002 {source="DOID:9733", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0041328 {source="DOID:9733", source="NCIT:C123020", source="MONDO:equivalentTo"}
is_a: MONDO:0000369 ! abdominal tuberculosis
is_a: MONDO:0005240 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
is_a: MONDO:0005247 ! urinary tract infection (disease)
is_a: MONDO:0006002 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant", source="indirect", source="linkedlifedata"} ! urogenital tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/186236001
property_value: exactMatch DOID:9733
property_value: exactMatch http://identifiers.org/mesh/D014398
property_value: exactMatch http://identifiers.org/snomedct/44323002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041328
property_value: exactMatch NCIT:C123020

[Term]
id: MONDO:0005939
name: Reoviridae infectious disease
def: "Infections produced by reoviruses, general or unspecified." [MESH:D012088]
synonym: "infection, Reoviridae" RELATED [MESH:D012088]
synonym: "infection, Reovirus" RELATED [MESH:D012088]
synonym: "infections, Reoviridae" RELATED [MESH:D012088]
synonym: "infections, Reovirus" RELATED [MESH:D012088]
synonym: "Reoviridae infection" RELATED [MESH:D012088]
synonym: "Reovirus infection" RELATED [MESH:D012088]
synonym: "Reovirus infections" RELATED [MESH:D012088]
xref: EFO:0007464 {source="MONDO:equivalentTo"}
xref: MESH:D012088 {source="MONDO:equivalentTo", source="EFO:0007464"}
xref: UMLS:C0035112 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007464", source="MESH:D012088/inferred", source="MONDO:Redundant", source="MONDOLEX:0005939"} ! viral infectious disease
property_value: closeMatch DOID:1334
property_value: exactMatch http://identifiers.org/mesh/D012088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035112

[Term]
id: MONDO:0005940
name: respirovirus infectious disease
def: "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface." [MESH:D010253]
synonym: "infections, Respirovirus" RELATED [MESH:D010253]
xref: EFO:0007465 {source="MONDO:equivalentTo"}
xref: MESH:D010253 {source="MONDO:equivalentTo", source="EFO:0007465"}
xref: UMLS:C3714630 {source="MONDO:equivalentTo"}
is_a: MONDO:0005896 ! Paramyxoviridae infectious disease
property_value: closeMatch DOID:3729
property_value: exactMatch http://identifiers.org/mesh/D010253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714630

[Term]
id: MONDO:0005941
name: retroperitoneal cancer
def: "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." [NCIT:P378]
synonym: "cancer of retroperitoneal space" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retroperitoneal space" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retroperitoneum" RELATED [DOID:5875, ICD9CM_2006:158.0]
synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [DOID:5875, ICD9CM_2006:158]
synonym: "malignant retroperitoneal cancer" RELATED [DOID:5875]
synonym: "malignant retroperitoneal neoplasm" EXACT [NCIT:C3537]
synonym: "malignant retroperitoneal space neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [DOID:5875]
synonym: "neoplasm of retroperitoneum" EXACT [DOID:5875]
synonym: "neoplasm of the retroperitoneum" EXACT [DOID:5875]
synonym: "retroperitoneal neoplasm" EXACT [CSP2005:2005-3788, DOID:5875, NCIT:C3357]
synonym: "retroperitoneal space cancer" EXACT []
synonym: "tumor of retroperitoneum" EXACT [DOID:5875]
xref: DOID:5875 {source="EFO:0007466", source="MONDO:equivalentTo"}
xref: EFO:0007466 {source="MONDO:equivalentTo"}
xref: ICD10:C48 {source="DOID:5875"}
xref: ICD10:C48.0 {source="DOID:5875"}
xref: ICD9:158 {source="DOID:5875"}
xref: ICD9:158.0 {source="DOID:5875"}
xref: MESH:D012186 {source="EFO:0007466", source="DOID:5875", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3537 {source="MONDO:kboom", source="DOID:5875", source="MONDO:equivalentTo"}
xref: SCTID:126872008 {source="DOID:5875", source="MONDO:kboom-pr-0.81/0.62/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:5875", source="DOID:5875/inferred", source="EFO:0007466/inferred", source="MONDO:Redundant", source="MONDOLEX:0005941"} ! cancer
is_a: MONDO:0024645 ! retroperitoneal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187801002
property_value: closeMatch http://identifiers.org/snomedct/187805006
property_value: closeMatch http://identifiers.org/snomedct/187817008
property_value: closeMatch http://identifiers.org/snomedct/254617008
property_value: closeMatch http://identifiers.org/snomedct/359767009
property_value: closeMatch http://identifiers.org/snomedct/359770008
property_value: closeMatch http://identifiers.org/snomedct/363420003
property_value: closeMatch http://identifiers.org/snomedct/94092006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035358
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153464
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153465
property_value: exactMatch DOID:5875
property_value: exactMatch http://identifiers.org/mesh/D012186
property_value: exactMatch http://identifiers.org/snomedct/126872008
property_value: exactMatch NCIT:C3537

[Term]
id: MONDO:0005942
name: Reye syndrome
def: "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." [NCIT:C34983]
subset: ordo_disease {source="Orphanet:3096"}
synonym: "Reye's syndrome" EXACT [DOID:14525]
xref: COHD:375241 {source="MONDO:equivalentTo"}
xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"}
xref: EFO:0007467 {source="MONDO:equivalentTo"}
xref: GARD:0007570 {source="MONDO:equivalentTo"}
xref: ICD10:G93.7 {source="DOID:14525", source="ORDO:3096/ntbt", source="Orphanet:3096"}
xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10039012 {source="ORDO:3096/e", source="Orphanet:3096"}
xref: MESH:D012202 {source="EFO:0007467", source="DOID:14525", source="MONDO:equivalentTo", source="ORDO:3096/e", source="MONDO:ontobio", source="Orphanet:3096"}
xref: NCIT:C34983 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:3096 {source="MONDO:equivalentTo"}
xref: SCTID:74351001 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035400 {source="DOID:14525", source="MONDO:equivalentTo", source="NCIT:C34983", source="ORDO:3096/e", source="Orphanet:3096"}
is_a: MONDO:0002254 {source="DOID:14525", source="MONDOLEX:0005942", source="NCIT:C34983"} ! syndromic disease
is_a: MONDO:0005560 {source="EFO:0007467", source="MESH:D012202/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
is_a: MONDO:0015938 {source="Orphanet:3096"} ! systemic disease
property_value: closeMatch http://identifiers.org/snomedct/154998003
property_value: closeMatch http://identifiers.org/snomedct/267688001
property_value: exactMatch DOID:14525
property_value: exactMatch http://identifiers.org/meddra/10039012
property_value: exactMatch http://identifiers.org/mesh/D012202
property_value: exactMatch http://identifiers.org/snomedct/74351001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035400
property_value: exactMatch NCIT:C34983
property_value: exactMatch Orphanet:3096

[Term]
id: MONDO:0005943
name: Rhabditida infectious disease
def: "Infections with nematodes of the order rhabditida." [MESH:D017196]
synonym: "infection, Rhabditida" RELATED [MESH:D017196]
synonym: "infections, Rhabditida" RELATED [MESH:D017196]
synonym: "Rhabditida infection" RELATED [MESH:D017196]
synonym: "Rhabditida infections" RELATED [GARD:0008203]
xref: EFO:0007468 {source="MONDO:equivalentTo"}
xref: GARD:0008203 {source="MONDO:equivalentTo"}
xref: MESH:D017196 {source="EFO:0007468", source="MONDO:equivalentTo"}
xref: UMLS:C0162631 {source="MONDO:equivalentTo"}
is_a: MONDO:0005871 ! Nematoda infectious disease
property_value: closeMatch DOID:2906
property_value: exactMatch http://identifiers.org/mesh/D017196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162631

[Term]
id: MONDO:0005944
name: Rhabdoviridae infectious disease
def: "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." [MESH:D018353]
synonym: "infection, Rhabdoviridae" RELATED [MESH:D018353]
synonym: "infections, Rhabdoviridae" RELATED [MESH:D018353]
synonym: "Rhabdoviridae infection" RELATED [MESH:D018353]
xref: EFO:0007469 {source="MONDO:equivalentTo"}
xref: MESH:D018353 {source="EFO:0007469", source="MONDO:equivalentTo"}
xref: UMLS:C0206751 {source="MONDO:equivalentTo"}
is_a: MONDO:0005856 ! Mononegavirales infectious disease
property_value: closeMatch DOID:1982
property_value: exactMatch http://identifiers.org/mesh/D018353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206751

[Term]
id: MONDO:0005945
name: rhinoscleroma
def: "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." [MESH:D012226]
xref: DOID:11336 {source="MONDO:equivalentTo", source="EFO:0007470"}
xref: EFO:0007470 {source="MONDO:equivalentTo"}
xref: ICD9:040.1 {source="DOID:11336", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012226 {source="DOID:11336", source="MONDO:equivalentTo", source="EFO:0007470", source="MONDO:ontobio"}
xref: SCTID:72409005 {source="DOID:11336", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0035468 {source="DOID:11336", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:11336"} ! primary bacterial infectious disease
is_a: MONDO:0030603 ! Klebsiella infectious disease
property_value: exactMatch DOID:11336
property_value: exactMatch http://identifiers.org/mesh/D012226
property_value: exactMatch http://identifiers.org/snomedct/72409005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035468

[Term]
id: MONDO:0005946
name: rhinosporidiosis
def: "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." [MESH:D012227]
subset: clingen
synonym: "infection by Rhinosporidium seeberi" EXACT [DOID:2409, MTHICD9_2006:117.0]
synonym: "Rhinosporidioses" RELATED [MESH:D012227]
synonym: "Rhinosporidium seeberi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rhinosporidium seeberi disease or disorder" EXACT []
synonym: "Rhinosporidium seeberi infectious disease" EXACT []
xref: COHD:438364 {source="MONDO:equivalentTo"}
xref: DOID:2409 {source="MONDO:equivalentTo", source="EFO:0007471"}
xref: EFO:0007471 {source="MONDO:equivalentTo"}
xref: ICD10:B48.1 {source="MONDO:equivalentTo", source="DOID:2409"}
xref: ICD9:117.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2409"}
xref: MESH:D012227 {source="MONDO:equivalentTo", source="EFO:0007471", source="MONDO:ontobio", source="DOID:2409"}
xref: SCTID:18140003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2409"}
xref: UMLS:C0035469 {source="MONDO:equivalentTo", source="DOID:2409"}
is_a: MONDO:0000307 {source="DOID:2409", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic Ichthyosporea infectious disease
property_value: exactMatch DOID:2409
property_value: exactMatch http://identifiers.org/mesh/D012227
property_value: exactMatch http://identifiers.org/snomedct/18140003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035469

[Term]
id: MONDO:0005947
name: rickettsial pneumonia
def: "Pneumonia caused by infection with bacteria of the family rickettsiaceae." [MESH:D011022]
synonym: "Rickettsiaceae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsiaceae pneumonia" EXACT []
xref: EFO:0007472 {source="MONDO:equivalentTo"}
xref: ICD9:484.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011022 {source="MONDO:equivalentTo", source="EFO:0007472", source="MONDO:ontobio"}
xref: SCTID:233621003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032307 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006927 ! Rickettsiaceae infectious disease
is_a: MONDO:0041850 ! pneumonia caused by gram negative bacteria
property_value: closeMatch DOID:13275
property_value: exactMatch http://identifiers.org/mesh/D011022
property_value: exactMatch http://identifiers.org/snomedct/233621003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032307

[Term]
id: MONDO:0005948
name: obsolete Ritter disease
is_obsolete: true
replaced_by: MONDO:0018181

[Term]
id: MONDO:0005949
name: roseolovirus infectious disease
def: "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children." [MESH:D019349]
synonym: "Roseolovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Roseolovirus disease or disorder" EXACT []
synonym: "Roseolovirus infectious disease" EXACT []
xref: EFO:0007474 {source="MONDO:equivalentTo"}
xref: MESH:D019349 {source="MONDO:equivalentTo", source="EFO:0007474"}
xref: UMLS:C0376549 {source="MONDO:equivalentTo"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
property_value: closeMatch DOID:5120
property_value: exactMatch http://identifiers.org/mesh/D019349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376549

[Term]
id: MONDO:0005950
name: Salmonella gastroenteritis
def: "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." [MESH:D012478]
synonym: "Salmonella caused gastroenteritis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: COHD:196328 {source="MONDO:equivalentTo"}
xref: EFO:0007475 {source="MONDO:equivalentTo"}
xref: ICD9:003.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012478 {source="MONDO:equivalentTo", source="EFO:0007475"}
xref: SCTID:42338000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000827 ! salmonellosis
is_a: MONDO:0002269 ! gastroenteritis
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch DOID:11092
property_value: exactMatch http://identifiers.org/mesh/D012478
property_value: exactMatch http://identifiers.org/snomedct/42338000

[Term]
id: MONDO:0005951
name: obsolete sarcocystosis
is_obsolete: true
replaced_by: MONDO:0018903

[Term]
id: MONDO:0005952
name: scarlet fever
def: "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." [NCIT:P378]
synonym: "scarlatina" EXACT [DOID:8596, MTHICD9_2006:034.1]
xref: COHD:141213 {source="MONDO:equivalentTo"}
xref: DOID:8596 {source="EFO:0007477", source="MONDO:equivalentTo"}
xref: EFO:0007477 {source="MONDO:equivalentTo"}
xref: ICD10:A38 {source="MONDO:equivalentTo", source="DOID:8596"}
xref: ICD10:A38.9 {source="DOID:8596"}
xref: ICD9:034 {source="DOID:8596"}
xref: ICD9:034.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8596"}
xref: MESH:D012541 {source="EFO:0007477", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8596"}
xref: NCIT:C94575 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8596"}
xref: SCTID:30242009 {source="MONDO:equivalentTo", source="DOID:8596", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: UMLS:C0036285 {source="MONDO:equivalentTo", source="DOID:8596", source="NCIT:C94575"}
is_a: MONDO:0021680 ! streptococcal infection
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
relationship: excluded_subClassOf MONDO:0004867 {source="DOID:8596"} ! upper respiratory tract disease
property_value: closeMatch http://identifiers.org/snomedct/154301006
property_value: closeMatch http://identifiers.org/snomedct/154303009
property_value: closeMatch http://identifiers.org/snomedct/154304003
property_value: closeMatch http://identifiers.org/snomedct/186357007
property_value: closeMatch http://identifiers.org/snomedct/186362008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343487
property_value: exactMatch DOID:8596
property_value: exactMatch http://identifiers.org/mesh/D012541
property_value: exactMatch http://identifiers.org/snomedct/30242009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036285
property_value: exactMatch NCIT:C94575

[Term]
id: MONDO:0005953
name: scirrhous adenocarcinoma
def: "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." [NCIT:C2928]
synonym: "adenocarcinoma with productive fibrosis" EXACT [DOID:4024, NCIT:C2928]
synonym: "FIBROADENOCARCINOMA, malignant" EXACT [NCIT:C2928]
synonym: "fibrocarcinoma" EXACT [NCIT:C2928]
synonym: "scirrhous adenocarcinoma" EXACT [NCIT:C2928]
synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4024]
synonym: "scirrhous carcinoma" EXACT [NCIT:C2928]
xref: DOID:4024 {source="EFO:0007478", source="MONDO:equivalentTo"}
xref: EFO:0007478 {source="MONDO:equivalentTo"}
xref: ICDO:8141/3 {source="NCIT:C2928"}
xref: MESH:D002293 {source="DOID:4024", source="EFO:0007478", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2928 {source="DOID:4024", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0007135 {source="DOID:4024", source="NCIT:C2928", source="MONDO:equivalentTo"}
is_a: MONDO:0002176 ! connective tissue cancer
is_a: MONDO:0004970 {source="DOID:4024", source="EFO:0007478", source="MESH:D002293", source="MONDOLEX:0005953", source="NCIT:C2928"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/4584002
property_value: exactMatch DOID:4024
property_value: exactMatch http://identifiers.org/mesh/D002293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007135
property_value: exactMatch NCIT:C2928

[Term]
id: MONDO:0005954
name: screw worm infectious disease
def: "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." [MESH:D012610]
synonym: "Cochliomyia hominivorax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cochliomyia hominivorax disease or disorder" EXACT []
synonym: "Cochliomyia hominivorax infectious disease" EXACT []
synonym: "infection, screw worm" RELATED [MESH:D012610]
synonym: "infections, screw worm" RELATED [MESH:D012610]
synonym: "screw worm infections" RELATED [MESH:D012610]
xref: DOID:12927 {source="EFO:0007479", source="MONDO:equivalentTo"}
xref: EFO:0007479 {source="MONDO:equivalentTo"}
xref: MESH:D012610 {source="EFO:0007479", source="MONDO:equivalentTo", source="DOID:12927"}
is_a: MONDO:0019147 {source="DOID:12927", source="MESH:D012610"} ! myiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036465
property_value: exactMatch DOID:12927
property_value: exactMatch http://identifiers.org/mesh/D012610

[Term]
id: MONDO:0005955
name: obsolete scrub typhus
is_obsolete: true
replaced_by: MONDO:0019365

[Term]
id: MONDO:0005956
name: septicemic plague
def: "A plague in which the bacteria have entered the bloodstream." [https://www.healthline.com/health/plague#types]
xref: DOID:3481 {source="MONDO:equivalentTo", source="EFO:0007481"}
xref: EFO:0007481 {source="MONDO:equivalentTo"}
xref: ICD10:A20.7 {source="MONDO:equivalentTo", source="DOID:3481"}
xref: ICD9:020.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:3481"}
xref: SCTID:9012003 {source="MONDO:equivalentTo", source="DOID:3481", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152936 {source="MONDO:equivalentTo", source="DOID:3481"}
is_a: MONDO:0005570 ! hematologic disease
is_a: MONDO:0019095 {source="DOID:3481", source="ICD10:A20.7", source="MONDO:Redundant", source="MONDOLEX:0005956", source="linkedlifedata"} ! plague
property_value: exactMatch DOID:3481
property_value: exactMatch http://identifiers.org/snomedct/9012003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152936

[Term]
id: MONDO:0005957
name: setariasis
def: "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness." [MESH:D012719]
synonym: "infectious disease by Setaria" EXACT [DOID:1079]
synonym: "Setaria <nematode> caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Setaria <nematode> disease or disorder" EXACT []
synonym: "Setaria <nematode> infectious disease" EXACT []
xref: DOID:1079 {source="MONDO:equivalentTo", source="EFO:0007482"}
xref: EFO:0007482 {source="MONDO:equivalentTo"}
xref: MESH:D012719 {source="DOID:1079", source="MONDO:equivalentTo", source="EFO:0007482", source="MONDO:ontobio"}
xref: SCTID:4414005 {source="DOID:1079", source="MONDO:equivalentTo"}
xref: UMLS:C0036850 {source="DOID:1079", source="MONDO:equivalentTo"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
is_a: MONDO:0016075 {source="DOID:1079", source="MESH:D012719", source="linkedlifedata"} ! filariasis
property_value: exactMatch DOID:1079
property_value: exactMatch http://identifiers.org/mesh/D012719
property_value: exactMatch http://identifiers.org/snomedct/4414005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036850

[Term]
id: MONDO:0005958
name: obsolete sex cord-stromal tumor
is_obsolete: true
replaced_by: MONDO:0006055

[Term]
id: MONDO:0005959
name: sick building syndrome
def: "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018877]
xref: DOID:2710 {source="MONDO:equivalentTo", source="EFO:0007484"}
xref: EFO:0007484 {source="MONDO:equivalentTo"}
xref: MESH:D018877 {source="DOID:2710", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007484"}
xref: SCTID:19076009 {source="DOID:2710", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0037050 {source="DOID:2710", source="MONDO:equivalentTo"}
is_a: MONDO:0004553 {source="DOID:2710"} ! extrinsic allergic alveolitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: exactMatch DOID:2710
property_value: exactMatch http://identifiers.org/mesh/D018877
property_value: exactMatch http://identifiers.org/snomedct/19076009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037050

[Term]
id: MONDO:0005960
name: silicosis
def: "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." [https://rarediseases.info.nih.gov/diseases/7647/silicosis]
subset: gard_rare {source="GARD:0007647"}
synonym: "accelerated silicosis" RELATED [GARD:0007647]
synonym: "acute silicosis" RELATED [GARD:0007647]
synonym: "chronic silicosis" RELATED [GARD:0007647]
synonym: "experimental silicosis" RELATED [GARD:0007647]
synonym: "nodular silicosis" RELATED []
synonym: "pneumoconiosis caused by silica" RELATED []
synonym: "pneumoconiosis due to silica" EXACT []
synonym: "pneumoconiosis due to silicates" EXACT [DOID:10325]
synonym: "silica pneumoconiosis" EXACT [DOID:10325]
synonym: "silicatosis" RELATED []
synonym: "silicosis" EXACT []
synonym: "silicotic fibrosis of lung" EXACT [DOID:10325, MTHICD9_2006:502]
synonym: "silicotuberculosis" NARROW [DOID:10325]
xref: DOID:10325 {source="MONDO:equivalentTo", source="EFO:0007485"}
xref: EFO:0007485 {source="MONDO:equivalentTo"}
xref: GARD:0007647 {source="MONDO:equivalentTo"}
xref: ICD10:J62 {source="DOID:10325"}
xref: ICD10:J62.8 {source="DOID:10325"}
xref: ICD9:502 {source="DOID:10325", source="MONDO:relatedTo", source="i2s", source="linkedlifedata"}
xref: MESH:D012829 {source="DOID:10325", source="MONDO:equivalentTo", source="EFO:0007485"}
xref: NCIT:C3369 {source="DOID:10325", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:805002 {source="DOID:10325", source="MONDO:equivalentTo"}
xref: UMLS:C0037116 {source="DOID:10325", source="MONDO:equivalentTo", source="NCIT:C3369"}
is_a: MONDO:0015926 {source="DOID:10325", source="EFO:0007485", source="MESH:D012829", source="MONDO:Redundant", source="NCIT:C3369", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/snomedct/155590008
property_value: closeMatch http://identifiers.org/snomedct/196010000
property_value: exactMatch DOID:10325
property_value: exactMatch http://identifiers.org/mesh/D012829
property_value: exactMatch http://identifiers.org/snomedct/805002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037116
property_value: exactMatch NCIT:C3369
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7647/silicosis xsd:anyURI {source="GARD:0007647"}

[Term]
id: MONDO:0005961
name: sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." [NCIT:C35024]
xref: DOID:0050127 {source="MONDO:equivalentTo", source="EFO:0007486"}
xref: EFO:0007486 {source="MONDO:equivalentTo"}
xref: ICD10:J01 {source="DOID:0050127"}
xref: ICD10:J01.9 {source="DOID:0050127"}
xref: ICD10:J01.90 {source="DOID:0050127"}
xref: ICD9:461 {source="DOID:0050127"}
xref: ICD9:461.9 {source="DOID:0050127"}
xref: MESH:D012852 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007486"}
xref: NCIT:C35024 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:36971009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0037199 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35024"}
is_a: MONDO:0001735 {source="DOID:0050127", source="MESH:D012852", source="MONDO:Redundant", source="NCIT:C35024/inferred", source="linkedlifedata"} ! paranasal sinus disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155498004
property_value: closeMatch http://identifiers.org/snomedct/155501004
property_value: closeMatch http://identifiers.org/snomedct/15805002
property_value: closeMatch http://identifiers.org/snomedct/195649005
property_value: closeMatch http://identifiers.org/snomedct/195653007
property_value: closeMatch http://identifiers.org/snomedct/266378004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149512
property_value: exactMatch DOID:0050127
property_value: exactMatch http://identifiers.org/mesh/D012852
property_value: exactMatch http://identifiers.org/snomedct/36971009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037199
property_value: exactMatch NCIT:C35024

[Term]
id: MONDO:0005962
name: skeletal tuberculosis
def: "Tuberculosis of the bones or joints." [MESH:D014394]
synonym: "osteoarticular tuberculosis" EXACT [DOID:1639]
xref: DOID:1639 {source="MONDO:equivalentTo", source="EFO:0007487"}
xref: EFO:0007487 {source="MONDO:equivalentTo"}
xref: ICD10:A18.0 {source="DOID:1639"}
xref: ICD9:015 {source="DOID:1639"}
xref: ICD9:015.9 {source="DOID:1639"}
xref: MESH:D014394 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007487", source="DOID:1639"}
xref: SCTID:17653001 {source="MONDO:equivalentTo", source="DOID:1639"}
xref: UMLS:C0041324 {source="MONDO:equivalentTo", source="DOID:1639"}
is_a: MONDO:0000368 {source="DOID:1639"} ! extrapulmonary tuberculosis
is_a: MONDO:0005172 ! skeletal system disease
property_value: closeMatch http://identifiers.org/snomedct/154287006
property_value: closeMatch http://identifiers.org/snomedct/186229002
property_value: closeMatch http://identifiers.org/snomedct/186234003
property_value: closeMatch http://identifiers.org/snomedct/266084009
property_value: exactMatch DOID:1639
property_value: exactMatch http://identifiers.org/mesh/D014394
property_value: exactMatch http://identifiers.org/snomedct/17653001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041324

[Term]
id: MONDO:0005963
name: sparganosis
def: "A condition resulting from infection with the second stage larvae of the parasite Spirometra." [NCIT:P378]
synonym: "infection by sparganum" EXACT [DOID:10080, MTHICD9_2006:123.5]
synonym: "sparganosis [larval diphyllobothriasis]" EXACT [DOID:10080, ICD9CM_2006:123.5]
synonym: "Spirometra caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Spirometra disease or disorder" EXACT []
synonym: "Spirometra infectious disease" EXACT []
xref: DOID:10080 {source="EFO:0007488", source="MONDO:equivalentTo"}
xref: EFO:0007488 {source="MONDO:equivalentTo"}
xref: ICD10:B70.1 {source="DOID:10080", source="MONDO:equivalentTo"}
xref: ICD9:123.5 {source="DOID:10080", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013031 {source="EFO:0007488", source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35030 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:31659000 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"}
xref: UMLS:C0037753 {source="NCIT:C35030", source="DOID:10080", source="MONDO:equivalentTo"}
is_a: MONDO:0042488 ! Cestode infectious disease
property_value: closeMatch http://identifiers.org/snomedct/187152002
property_value: exactMatch DOID:10080
property_value: exactMatch http://identifiers.org/mesh/D013031
property_value: exactMatch http://identifiers.org/snomedct/31659000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037753
property_value: exactMatch NCIT:C35030

[Term]
id: MONDO:0005964
name: sphenoid sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." [NCIT:P378]
synonym: "sinusitis of sphenoid bone" EXACT [MONDO:design_pattern]
synonym: "sphenoid bone sinusitis" EXACT [MONDO:patterns/location]
synonym: "sphenoidal sinusitis" EXACT [DOID:10794, NCIT:C35031]
xref: DOID:10794 {source="EFO:0007489", source="MONDO:equivalentTo"}
xref: EFO:0007489 {source="MONDO:equivalentTo"}
xref: ICD10:J32.3 {source="MONDO:superClassOf", source="DOID:10794"}
xref: MESH:D015524 {source="EFO:0007489", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10794"}
xref: NCIT:C35031 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10794"}
xref: SCTID:13266007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10794"}
xref: UMLS:C0037886 {source="NCIT:C35031", source="MONDO:equivalentTo", source="DOID:10794"}
is_a: MONDO:0005961 {source="DOID:10794", source="EFO:0007489", source="MESH:D015524", source="MONDO:Redundant", source="NCIT:C35031", source="linkedlifedata"} ! sinusitis
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:10794
property_value: exactMatch http://identifiers.org/mesh/D015524
property_value: exactMatch http://identifiers.org/snomedct/13266007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037886
property_value: exactMatch NCIT:C35031

[Term]
id: MONDO:0005965
name: spinal stenosis
def: "Narrowing of the spinal canal." [MESH:D013130]
synonym: "cervical spinal stenosis" NARROW [DOID:6725]
synonym: "lumbar spinal stenosis" NARROW [DOID:6725]
synonym: "spinal stenosis of lumbar region" NARROW [DOID:6725, ICD9CM_2006:724.02]
xref: COHD:77079 {source="MONDO:equivalentTo"}
xref: DOID:6725 {source="EFO:0007490", source="MONDO:equivalentTo"}
xref: EFO:0007490 {source="MONDO:equivalentTo"}
xref: HP:0003416 {source="MONDO:otherHierarchy"}
xref: ICD10:M48.0 {source="DOID:6725"}
xref: ICD10:M48.00 {source="DOID:6725"}
xref: ICD10:M48.02 {source="DOID:6725"}
xref: ICD10:M48.06 {source="DOID:6725"}
xref: ICD9:723.0 {source="DOID:6725"}
xref: ICD9:724.00 {source="DOID:6725", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:724.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013130 {source="DOID:6725", source="EFO:0007490", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:76107001 {source="DOID:6725", source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0000834 {source="DOID:6725"} ! bone deterioration disease
property_value: closeMatch http://identifiers.org/snomedct/156640006
property_value: closeMatch http://identifiers.org/snomedct/156646000
property_value: closeMatch http://identifiers.org/snomedct/202780000
property_value: closeMatch http://identifiers.org/snomedct/202781001
property_value: closeMatch http://identifiers.org/snomedct/202791007
property_value: closeMatch http://identifiers.org/snomedct/268082002
property_value: closeMatch http://identifiers.org/snomedct/83561009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037944
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158280
property_value: exactMatch DOID:6725
property_value: exactMatch http://identifiers.org/mesh/D013130
property_value: exactMatch http://identifiers.org/snomedct/76107001

[Term]
id: MONDO:0005966
name: spleen cancer
def: "A malignant neoplasm involving the spleen" [MONDO:DesignPattern]
synonym: "cancer of spleen" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the spleen" EXACT [NCIT:C3539]
synonym: "malignant neoplasm of spleen" EXACT [MONDO:patterns/cancer, NCIT:C3539]
synonym: "malignant neoplasm of the spleen" EXACT [NCIT:C3539]
synonym: "malignant spleen neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant splenic neoplasm" EXACT [NCIT:C3539]
synonym: "malignant splenic tumor" EXACT [DOID:672, NCIT:C3539]
synonym: "malignant tumor of spleen" EXACT [NCIT:C3539]
synonym: "malignant tumor of the spleen" EXACT [NCIT:C3539]
synonym: "malignant tumour of spleen" EXACT [DOID:672]
synonym: "spleen cancer" EXACT [MONDO:patterns/location, NCIT:C3539]
synonym: "spleen neoplasm" EXACT [CSP2005:2004-6589, DOID:672]
synonym: "splenic cancer" EXACT [NCIT:C3539]
synonym: "splenic neoplasm" EXACT [DOID:672, NCIT:C3383]
xref: DOID:672 {source="MONDO:equivalentTo", source="EFO:0007491"}
xref: EFO:0007491 {source="MONDO:equivalentTo"}
xref: ICD10:C26.1 {source="MONDO:equivalentTo", source="DOID:672"}
xref: MESH:D013160 {source="MONDO:equivalentTo", source="EFO:0007491", source="MONDO:ontobio", source="DOID:672"}
xref: NCIT:C3539 {source="MONDO:equivalentTo", source="DOID:672", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: SCTID:127230005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58", source="DOID:672"}
is_a: MONDO:0000612 {source="DOID:672", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer
is_a: MONDO:0002516 {source="ICD10:C26.1/inferred", source="MONDO:Redundant"} ! digestive system cancer
is_a: MONDO:0036696 ! spleen neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187823003
property_value: closeMatch http://identifiers.org/snomedct/254616004
property_value: closeMatch http://identifiers.org/snomedct/363499005
property_value: closeMatch http://identifiers.org/snomedct/94071006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037999
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153470
property_value: exactMatch DOID:672
property_value: exactMatch http://identifiers.org/mesh/D013160
property_value: exactMatch http://identifiers.org/snomedct/127230005
property_value: exactMatch NCIT:C3539

[Term]
id: MONDO:0005967
name: splenic tuberculosis
def: "Infection of the spleen with species of mycobacterium." [MESH:D014400]
xref: DOID:9305 {source="MONDO:equivalentTo", source="EFO:0007492"}
xref: EFO:0007492 {source="MONDO:equivalentTo"}
xref: ICD10:A18.85 {source="DOID:9305"}
xref: ICD9:017.7 {source="DOID:9305"}
xref: MESH:D014400 {source="DOID:9305", source="MONDO:equivalentTo", source="EFO:0007492", source="MONDO:ontobio"}
xref: SCTID:28399005 {source="DOID:9305", source="MONDO:equivalentTo"}
xref: UMLS:C0041331 {source="DOID:9305", source="MONDO:equivalentTo"}
is_a: MONDO:0000369 ! abdominal tuberculosis
is_a: MONDO:0002332 ! splenic disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch DOID:9305
property_value: exactMatch http://identifiers.org/mesh/D014400
property_value: exactMatch http://identifiers.org/snomedct/28399005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041331

[Term]
id: MONDO:0005968
name: sporotrichosis
def: "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." [MESH:D013174]
subset: gard_rare {source="GARD:0007692"}
subset: ordo_disease {source="Orphanet:826"}
synonym: "rose gardener's disease" RELATED [GARD:0007692]
xref: COHD:434859 {source="MONDO:equivalentTo"}
xref: DOID:14484 {source="MONDO:equivalentTo", source="EFO:0007494"}
xref: EFO:0007494 {source="MONDO:equivalentTo"}
xref: GARD:0007692 {source="MONDO:equivalentTo"}
xref: ICD10:B42 {source="MONDO:equivalentTo", source="DOID:14484"}
xref: ICD10:B42.0 {source="ORDO:826/btnt", source="Orphanet:826"}
xref: ICD10:B42.1 {source="ORDO:826/btnt", source="Orphanet:826"}
xref: ICD10:B42.7 {source="ORDO:826/btnt", source="Orphanet:826"}
xref: ICD10:B42.8 {source="ORDO:826/btnt", source="Orphanet:826"}
xref: ICD10:B42.9 {source="ORDO:826/btnt", source="DOID:14484", source="Orphanet:826"}
xref: ICD9:117.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14484"}
xref: MedDRA:10041736 {source="ORDO:826/e", source="Orphanet:826"}
xref: MESH:D013174 {source="ORDO:826/e", source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494", source="MONDO:ontobio"}
xref: Orphanet:826 {source="MONDO:equivalentTo"}
xref: SCTID:42094007 {source="MONDO:equivalentTo", source="DOID:14484", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0038034 {source="ORDO:826/e", source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826"}
is_a: MONDO:0002041 {source="DOID:14484/inferred", source="ICD10:B42", source="MESH:D013174/inferred", source="Orphanet:826", source="linkedlifedata/inferred"} ! fungal infectious disease
relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14484"} ! primary systemic mycosis
relationship: excluded_subClassOf MONDO:0002040 {source="MESH:D013174"} ! dermatomycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154408001
property_value: closeMatch http://identifiers.org/snomedct/187078008
property_value: closeMatch http://identifiers.org/snomedct/187488001
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: exactMatch DOID:14484
property_value: exactMatch http://identifiers.org/meddra/10041736
property_value: exactMatch http://identifiers.org/mesh/D013174
property_value: exactMatch http://identifiers.org/snomedct/42094007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038034
property_value: exactMatch Orphanet:826
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis xsd:anyURI {source="GARD:0007692"}

[Term]
id: MONDO:0005969
name: st. Louis encephalitis
def: "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" [MESH:D004674]
subset: ordo_disease {source="Orphanet:83484"}
synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845]
synonym: "Saint Louis encephalitis" EXACT [Orphanet:83484]
synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT []
xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"}
xref: EFO:0007495 {source="MONDO:equivalentTo"}
xref: ICD10:A83.3 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="ORDO:83484/ntbt"}
xref: ICD9:062.3 {source="DOID:10845", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10041896 {source="Orphanet:83484", source="ORDO:83484/e"}
xref: MESH:D004674 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007495", source="ORDO:83484/e"}
xref: Orphanet:83484 {source="MONDO:equivalentTo"}
xref: SCTID:417607009 {source="DOID:10845", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014060 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="ORDO:83484/e"}
is_a: MONDO:0005763 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! Flaviviridae infectious disease
is_a: MONDO:0015659 {source="Orphanet:83484"} ! infectious disease with epilepsy
is_a: MONDO:0020601 ! mosquito-borne viral encephalitis
property_value: closeMatch http://identifiers.org/snomedct/10429004
property_value: closeMatch http://identifiers.org/snomedct/417192005
property_value: exactMatch DOID:10845
property_value: exactMatch http://identifiers.org/meddra/10041896
property_value: exactMatch http://identifiers.org/mesh/D004674
property_value: exactMatch http://identifiers.org/snomedct/417607009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014060
property_value: exactMatch Orphanet:83484

[Term]
id: MONDO:0005970
name: staphylococcal pneumonia
def: "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." [MESH:D011023]
synonym: "Staphylococcus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus pneumonia" EXACT []
xref: COHD:259852 {source="MONDO:equivalentTo"}
xref: EFO:0007496 {source="MONDO:equivalentTo"}
xref: ICD9:482.4 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:482.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:482.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011023 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007496"}
xref: SCTID:22754005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004652 ! bacterial pneumonia
is_a: MONDO:0024313 ! staphylococcal infection
property_value: closeMatch DOID:12608
property_value: exactMatch http://identifiers.org/mesh/D011023
property_value: exactMatch http://identifiers.org/snomedct/22754005

[Term]
id: MONDO:0005971
name: staphyloenterotoxemia
def: "Food poisoning that is caused by Staphylococcal infection." [NCIT:C35037]
synonym: "staphylococcal food poisoning" EXACT [DOID:96, ICD9CM_2006:005.0, NCIT:C35037]
synonym: "staphylococcal toxaemia due to food" EXACT [DOID:96]
synonym: "staphyloenterotoxicosis" EXACT [DOID:96]
xref: DOID:96 {source="MONDO:equivalentTo", source="EFO:0007497"}
xref: EFO:0007497 {source="MONDO:equivalentTo"}
xref: GARD:0009559 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:A05.0 {source="DOID:96"}
xref: ICD9:005.0 {source="DOID:96", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013202 {source="DOID:96", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007497"}
xref: NCIT:C35037 {source="DOID:96", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:84622004 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="DOID:96", source="MONDO:equivalentTo"}
xref: UMLS:C0038159 {source="DOID:96", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35037"}
is_a: MONDO:0000314 {source="DOID:96"} ! primary bacterial infectious disease
is_a: MONDO:0024313 {source="MESH:D013202", source="NCIT:C35037"} ! staphylococcal infection
property_value: exactMatch DOID:96
property_value: exactMatch http://identifiers.org/mesh/D013202
property_value: exactMatch http://identifiers.org/snomedct/84622004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038159
property_value: exactMatch NCIT:C35037

[Term]
id: MONDO:0005972
name: streptococcal pneumonia
def: "A febrile disease caused by streptococcus pneumoniae." [MESH:D011018]
synonym: "pneumococcal pneumonia" EXACT []
synonym: "pneumonia caused by streptococcus" RELATED []
synonym: "pneumonia due to streptococcus" EXACT []
synonym: "streptococcal pneumonia" EXACT []
synonym: "Streptococcus pneumonia" RELATED [DOID:0040084]
synonym: "Streptococcus pneumoniae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae pneumonia" EXACT []
xref: DOID:0040084 {source="MONDO:equivalentTo"}
xref: EFO:0007499 {source="MONDO:equivalentTo"}
xref: ICD10:J13 {source="MONDO:equivalentTo", source="DOID:0040084"}
xref: ICD9:481 {source="DOID:0040084"}
xref: ICD9:482.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:482.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011018 {source="EFO:0007499", source="MONDO:equivalentTo"}
xref: SCTID:233607000 {source="MONDO:equivalentTo"}
xref: UMLS:C0155862 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004652 {source="DOID:0040084", source="MESH:D011018", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial pneumonia
is_a: MONDO:0005114 {source="MESH:D011018", source="MONDO:Redundant", source="linkedlifedata"} ! pneumococcal infection
property_value: closeMatch DOID:10532
property_value: exactMatch DOID:0040084
property_value: exactMatch http://identifiers.org/mesh/D011018
property_value: exactMatch http://identifiers.org/snomedct/233607000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155862

[Term]
id: MONDO:0005973
name: Strongylida infectious disease
def: "Infections with nematodes of the order strongylida." [MESH:D017206]
xref: EFO:0007500 {source="MONDO:equivalentTo"}
xref: MESH:D017206 {source="EFO:0007500", source="MONDO:equivalentTo"}
is_a: MONDO:0005871 ! Nematoda infectious disease
property_value: closeMatch DOID:1845
property_value: exactMatch http://identifiers.org/mesh/D017206

[Term]
id: MONDO:0005974
name: strongyloidiasis
def: "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." [NCIT:C128398]
subset: ordo_disease {source="Orphanet:76"}
synonym: "Anguilluliasis" EXACT [Orphanet:76]
synonym: "Anguillulosis" EXACT [Orphanet:76]
synonym: "disseminated strongyloidiasis" EXACT [DOID:10955]
synonym: "infection by Strongyloides" EXACT [DOID:10955]
xref: DOID:10955 {source="EFO:0007501", source="MONDO:equivalentTo"}
xref: EFO:0007501 {source="MONDO:equivalentTo"}
xref: GARD:0008195 {source="MONDO:equivalentTo"}
xref: ICD10:B78 {source="DOID:10955"}
xref: ICD10:B78.0 {source="Orphanet:76", source="ORDO:76/btnt"}
xref: ICD10:B78.1 {source="Orphanet:76", source="ORDO:76/btnt"}
xref: ICD10:B78.7 {source="Orphanet:76", source="ORDO:76/btnt"}
xref: ICD10:B78.9 {source="Orphanet:76", source="DOID:10955", source="ORDO:76/btnt"}
xref: ICD9:127.2 {source="DOID:10955"}
xref: MedDRA:10042254 {source="Orphanet:76", source="ORDO:76/e"}
xref: MESH:D013322 {source="Orphanet:76", source="ORDO:76/e", source="EFO:0007501", source="DOID:10955", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128398 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:76 {source="MONDO:equivalentTo"}
xref: SCTID:187176005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.68/2.44"}
xref: UMLS:C0038463 {source="Orphanet:76", source="ORDO:76/e", source="NCIT:C128398", source="DOID:10955", source="MONDO:equivalentTo"}
xref: UMLS:C0085810 {source="Orphanet:76", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C0348996 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0005943 {source="MESH:D013322", source="indirect"} ! Rhabditida infectious disease
is_a: MONDO:0005973 ! Strongylida infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/1214006
property_value: closeMatch http://identifiers.org/snomedct/187177001
property_value: closeMatch http://identifiers.org/snomedct/187537002
property_value: exactMatch DOID:10955
property_value: exactMatch http://identifiers.org/meddra/10042254
property_value: exactMatch http://identifiers.org/mesh/D013322
property_value: exactMatch http://identifiers.org/snomedct/187176005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348996
property_value: exactMatch NCIT:C128398
property_value: exactMatch Orphanet:76

[Term]
id: MONDO:0005975
name: suppurative otitis media
def: "Inflammation of the middle ear with purulent discharge." [MESH:D010035]
synonym: "otitis media with effusion - purulent" EXACT [DOID:11506]
synonym: "purulent otitis media" EXACT [DOID:11506, MTHICD9_2006:382.4]
xref: COHD:376712 {source="MONDO:equivalentTo"}
xref: DOID:11506 {source="EFO:0007503", source="MONDO:equivalentTo"}
xref: EFO:0007503 {source="MONDO:equivalentTo"}
xref: ICD10:H66 {source="DOID:11506"}
xref: ICD10:H66.4 {source="DOID:11506"}
xref: ICD10:H66.40 {source="DOID:11506"}
xref: ICD9:382 {source="DOID:11506"}
xref: ICD9:382.4 {source="MONDO:equivalentTo", source="DOID:11506", source="i2s"}
xref: MESH:D010035 {source="EFO:0007503", source="MONDO:equivalentTo", source="DOID:11506", source="MONDO:ontobio"}
xref: SCTID:39288006 {source="MONDO:equivalentTo", source="DOID:11506", source="MONDO:kboom-pr-0.95/0.74/1.99"}
xref: UMLS:C0029888 {source="MONDO:equivalentTo", source="DOID:11506"}
is_a: MONDO:0005441 {source="DOID:11506", source="EFO:0007503", source="MESH:D010035", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis media (disease)
property_value: closeMatch http://identifiers.org/snomedct/155229002
property_value: closeMatch http://identifiers.org/snomedct/194258000
property_value: closeMatch http://identifiers.org/snomedct/194280002
property_value: closeMatch http://identifiers.org/snomedct/194285007
property_value: closeMatch http://identifiers.org/snomedct/267758003
property_value: exactMatch DOID:11506
property_value: exactMatch http://identifiers.org/mesh/D010035
property_value: exactMatch http://identifiers.org/snomedct/39288006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029888

[Term]
id: MONDO:0005976
name: syphilis
def: "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." [NCIT:P378]
synonym: "syphilitic chancre" EXACT [DOID:4166]
synonym: "Treponema pallidum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum disease or disorder" EXACT []
synonym: "Treponema pallidum infectious disease" EXACT []
xref: COHD:436033 {source="MONDO:equivalentTo"}
xref: DOID:4166 {source="EFO:0007504", source="MONDO:equivalentTo"}
xref: EFO:0007504 {source="MONDO:equivalentTo"}
xref: ICD10:A51.0 {source="DOID:4166"}
xref: ICD9:097.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10062120 {source="EFO:0007504"}
xref: MESH:D013587 {source="EFO:0007504", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35055 {source="EFO:0007504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:76272004 {source="EFO:0007504", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.68/1.38"}
is_a: MONDO:0000314 {source="DOID:4166", source="MONDO:Redundant"} ! primary bacterial infectious disease
is_a: MONDO:0007000 {source="MESH:D013587", source="MONDO:Redundant", source="NCIT:C35055"} ! Treponema infectious disease
property_value: closeMatch http://identifiers.org/meddra/10062120
property_value: closeMatch http://identifiers.org/snomedct/266127002
property_value: closeMatch http://identifiers.org/snomedct/58433006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007939
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039128
property_value: exactMatch DOID:4166
property_value: exactMatch http://identifiers.org/mesh/D013587
property_value: exactMatch http://identifiers.org/snomedct/76272004
property_value: exactMatch NCIT:C35055

[Term]
id: MONDO:0005977
name: tabes dorsalis
def: "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints." [NCIT:P378]
synonym: "posterior spinal sclerosis" EXACT [DOID:10027, MTHICD9_2006:094.0]
synonym: "syphilitic myelopathy" RELATED [GARD:0008730]
synonym: "tabes dorsalis - neurosyphilis" EXACT [DOID:10027]
xref: COHD:373962 {source="MONDO:equivalentTo"}
xref: DOID:10027 {source="MONDO:equivalentTo", source="EFO:0007505"}
xref: EFO:0007505 {source="MONDO:equivalentTo"}
xref: GARD:0008730 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:A52.11 {source="DOID:10027", source="MONDO:equivalentTo"}
xref: ICD9:094.0 {source="DOID:10027", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013606 {source="DOID:10027", source="MONDO:equivalentTo", source="EFO:0007505", source="MONDO:ontobio"}
xref: NCIT:C35057 {source="DOID:10027", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:316841006 {source="DOID:10027", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0039223 {source="DOID:10027", source="MONDO:equivalentTo", source="NCIT:C35057"}
is_a: MONDO:0004944 {source="DOID:10027", source="NCIT:C35057", source="linkedlifedata/inferred"} ! neurosyphilis
is_a: MONDO:0020010 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system
property_value: closeMatch http://identifiers.org/snomedct/154384001
property_value: closeMatch http://identifiers.org/snomedct/186885003
property_value: closeMatch http://identifiers.org/snomedct/266134000
property_value: closeMatch http://identifiers.org/snomedct/266210001
property_value: closeMatch http://identifiers.org/snomedct/2844004
property_value: closeMatch http://identifiers.org/snomedct/315826004
property_value: closeMatch http://identifiers.org/snomedct/51928006
property_value: exactMatch DOID:10027
property_value: exactMatch http://identifiers.org/mesh/D013606
property_value: exactMatch http://identifiers.org/snomedct/316841006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039223
property_value: exactMatch NCIT:C35057

[Term]
id: MONDO:0005978
name: theileriasis
def: "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." [MESH:D013801]
synonym: "infection by Theileria" EXACT [DOID:3733]
synonym: "theileriosis" EXACT [DOID:3733]
xref: DOID:3733 {source="EFO:0007506", source="MONDO:equivalentTo"}
xref: EFO:0007506 {source="MONDO:equivalentTo"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013801 {source="DOID:3733", source="EFO:0007506", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:68771000 {source="DOID:3733", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.23"}
xref: UMLS:C0039753 {source="DOID:3733", source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="DOID:3733", source="MESH:D013801/inferred"} ! protozoa infectious disease
property_value: exactMatch DOID:3733
property_value: exactMatch http://identifiers.org/mesh/D013801
property_value: exactMatch http://identifiers.org/snomedct/68771000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039753

[Term]
id: MONDO:0005979
name: thoracic outlet syndrome
def: "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." [NCIT:P378]
subset: ordo_disease {source="Orphanet:97330"}
synonym: "thoracic outlet compression syndrome" EXACT [Orphanet:97330]
synonym: "TOS" EXACT [Orphanet:97330]
synonym: "TOS - thoracic outlet syndrome" EXACT [DOID:3103]
xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"}
xref: EFO:0007507 {source="MONDO:equivalentTo"}
xref: ICD10:G54.0 {source="ORDO:97330/ntbt", source="DOID:3103", source="Orphanet:97330"}
xref: MedDRA:10048627 {source="ORDO:97330/e", source="Orphanet:97330"}
xref: MESH:D013901 {source="DOID:3103", source="MONDO:equivalentTo", source="EFO:0007507", source="ORDO:97330/e", source="Orphanet:97330"}
xref: NCIT:C85188 {source="DOID:3103", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:97330 {source="MONDO:equivalentTo"}
xref: SCTID:128210009 {source="DOID:3103", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0039984 {source="DOID:3103", source="MONDO:equivalentTo", source="ORDO:97330/e", source="NCIT:C85188", source="Orphanet:97330"}
is_a: MONDO:0002254 {source="MONDOLEX:0005979", source="NCIT:C85188"} ! syndromic disease
is_a: MONDO:0005385 {source="DOID:3103", source="EFO:0007507", source="MESH:D013901", source="MONDO:Redundant"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020002"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/193106006
property_value: closeMatch http://identifiers.org/snomedct/193107002
property_value: closeMatch http://identifiers.org/snomedct/193108007
property_value: closeMatch http://identifiers.org/snomedct/212769008
property_value: closeMatch http://identifiers.org/snomedct/393578000
property_value: exactMatch DOID:3103
property_value: exactMatch http://identifiers.org/meddra/10048627
property_value: exactMatch http://identifiers.org/mesh/D013901
property_value: exactMatch http://identifiers.org/snomedct/128210009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039984
property_value: exactMatch NCIT:C85188
property_value: exactMatch Orphanet:97330

[Term]
id: MONDO:0005980
name: tick infestation
def: "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." [MESH:D013984]
synonym: "Ixodoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ixodoidea disease or disorder" EXACT []
synonym: "Ixodoidea infectious disease" EXACT []
xref: DOID:4109 {source="MONDO:equivalentTo", source="EFO:0007508"}
xref: EFO:0007508 {source="MONDO:equivalentTo"}
xref: MESH:D013984 {source="MONDO:equivalentTo", source="DOID:4109", source="EFO:0007508", source="MONDO:ontobio"}
xref: UMLS:C0040196 {source="MONDO:equivalentTo", source="DOID:4109"}
is_a: MONDO:0002875 {source="DOID:4109", source="MESH:D013984"} ! parasitic ectoparasitic infectious disease
property_value: exactMatch DOID:4109
property_value: exactMatch http://identifiers.org/mesh/D013984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040196

[Term]
id: MONDO:0005981
name: tick paralysis
def: "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." [MESH:D013985]
subset: gard_rare {source="GARD:0007771"}
xref: DOID:11285 {source="MONDO:equivalentTo", source="EFO:0007509"}
xref: EFO:0007509 {source="MONDO:equivalentTo"}
xref: GARD:0007771 {source="MONDO:equivalentTo"}
xref: MESH:D013985 {source="MONDO:equivalentTo", source="DOID:11285", source="EFO:0007509", source="MONDO:ontobio"}
xref: SCTID:74225001 {source="MONDO:kboom-pr-1.00/0.90/26.89", source="MONDO:equivalentTo", source="DOID:11285"}
xref: UMLS:C0040197 {source="MONDO:equivalentTo", source="DOID:11285"}
is_a: MONDO:0005980 {source="DOID:11285", source="MONDO:Redundant"} ! tick infestation
is_a: MONDO:0020010 ! infectious disease of the nervous system
property_value: exactMatch DOID:11285
property_value: exactMatch http://identifiers.org/mesh/D013985
property_value: exactMatch http://identifiers.org/snomedct/74225001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040197
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis xsd:anyURI {source="GARD:0007771"}

[Term]
id: MONDO:0005982
name: tinea infection
def: "A skin infection caused by a fungus." [NCIT:C112181]
comment: Editor note: consider obsoleting as this is a loose grouping
synonym: "ringworm" RELATED [https://en.wikipedia.org/wiki/Tinea]
synonym: "Tinea" EXACT [NCIT:C112181]
synonym: "Tinea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tinea disease or disorder" EXACT []
synonym: "Tinea infection" EXACT [NCIT:C112181]
synonym: "Tinea infectious disease" EXACT []
xref: EFO:0007510 {source="MONDO:equivalentTo"}
xref: NCIT:C112181 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0040247 {source="NCIT:C112181", source="MONDO:equivalentTo"}
is_a: MONDO:0021201 {source="NCIT:C112181"} ! skin infection
property_value: closeMatch DOID:12404
property_value: closeMatch http://identifiers.org/mesh/D014005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040247
property_value: exactMatch NCIT:C112181

[Term]
id: MONDO:0005983
name: tinea favosa
def: "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles." [NCIT:C35072]
synonym: "favus" EXACT [DOID:4336, NCIT:C35072]
xref: DOID:4336 {source="EFO:0007511", source="MONDO:equivalentTo"}
xref: EFO:0007511 {source="MONDO:equivalentTo"}
xref: ICD10:B35 {source="MONDO:relatedTo", source="DOID:4336"}
xref: MESH:D014007 {source="EFO:0007511", source="DOID:4336", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35072 {source="DOID:4336", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:85375000 {source="DOID:4336", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0040254 {source="DOID:4336", source="MONDO:equivalentTo", source="NCIT:C35072"}
is_a: MONDO:0000254 ! cutaneous mycosis
is_a: MONDO:0021201 {source="MONDO:Redundant", source="NCIT:C35072"} ! skin infection
property_value: exactMatch DOID:4336
property_value: exactMatch http://identifiers.org/mesh/D014007
property_value: exactMatch http://identifiers.org/snomedct/85375000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040254
property_value: exactMatch NCIT:C35072

[Term]
id: MONDO:0005984
name: tinea pedis
def: "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." [MESH:D014008]
synonym: "athlete's foot" EXACT [DOID:12403, MTHICD9_2006:110.4]
synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD9CM_2006:110.4]
synonym: "dermatophytosis of pes" EXACT [MONDO:design_pattern]
synonym: "pes dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "ringworm of foot" RELATED [DOID:12403]
xref: COHD:133141 {source="MONDO:equivalentTo"}
xref: DOID:12403 {source="EFO:0007512", source="MONDO:equivalentTo"}
xref: EFO:0007512 {source="MONDO:equivalentTo"}
xref: ICD10:B35.3 {source="DOID:12403", source="MONDO:equivalentTo"}
xref: ICD9:110.4 {source="DOID:12403", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014008 {source="DOID:12403", source="EFO:0007512", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:6020002 {source="DOID:12403", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040259 {source="DOID:12403", source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:12403", source="ICD10:B35.3", source="MONDO:Redundant", source="linkedlifedata"} ! dermatophytosis
is_a: MONDO:0044989 ! foot disease
property_value: closeMatch http://identifiers.org/snomedct/154399001
property_value: closeMatch http://identifiers.org/snomedct/186993002
property_value: closeMatch http://identifiers.org/snomedct/271427009
property_value: exactMatch DOID:12403
property_value: exactMatch http://identifiers.org/mesh/D014008
property_value: exactMatch http://identifiers.org/snomedct/6020002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040259

[Term]
id: MONDO:0005985
name: Togaviridae infectious disease
def: "Virus diseases caused by the togaviridae." [MESH:D014036]
synonym: "Togaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Togaviridae disease or disorder" EXACT []
xref: EFO:0007513 {source="MONDO:equivalentTo"}
xref: GARD:0007776 {source="MONDO:equivalentTo"}
xref: MESH:D014036 {source="EFO:0007513", source="MONDO:equivalentTo"}
xref: UMLS:C0040361 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007513", source="MESH:D014036/inferred", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch DOID:4865
property_value: exactMatch http://identifiers.org/mesh/D014036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040361

[Term]
id: MONDO:0005986
name: torovirus infectious disease
def: "Infections with viruses of the genus torovirus, family coronaviridae." [MESH:D018176]
synonym: "Torovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Torovirus disease or disorder" EXACT []
synonym: "Torovirus infectious disease" EXACT []
xref: EFO:0007514 {source="MONDO:equivalentTo"}
xref: MESH:D018176 {source="EFO:0007514", source="MONDO:equivalentTo"}
xref: UMLS:C0206607 {source="MONDO:equivalentTo"}
is_a: MONDO:0005876 ! Nidovirales infectious disease
property_value: closeMatch DOID:4088
property_value: exactMatch http://identifiers.org/mesh/D018176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206607

[Term]
id: MONDO:0005987
name: toxascariasis
def: "Infections with nematodes of the genus toxascaris." [MESH:D017227]
synonym: "Toxascaris caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxascaris disease or disorder" EXACT []
synonym: "Toxascaris infectious disease" EXACT []
xref: DOID:3107 {source="EFO:0007515", source="MONDO:equivalentTo"}
xref: EFO:0007515 {source="MONDO:equivalentTo"}
xref: MESH:D017227 {source="EFO:0007515", source="MONDO:equivalentTo", source="DOID:3107", source="MONDO:ontobio"}
xref: UMLS:C0040522 {source="MONDO:equivalentTo", source="DOID:3107"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
property_value: exactMatch DOID:3107
property_value: exactMatch http://identifiers.org/mesh/D017227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040522

[Term]
id: MONDO:0005988
name: toxocariasis
def: "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." [NCIT:P378]
subset: ordo_disease {source="Orphanet:3343"}
synonym: "infection by Toxascaris" EXACT [DOID:9790]
synonym: "Toxocara caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxocara disease or disorder" EXACT []
synonym: "Toxocara infection" EXACT [DOID:9790, MTHICD9_2006:128.0]
synonym: "Toxocara infectious disease" EXACT []
synonym: "visceral larva migrans" EXACT [DOID:9790]
xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"}
xref: EFO:0007516 {source="MONDO:equivalentTo"}
xref: GARD:0007788 {source="MONDO:equivalentTo"}
xref: ICD10:B83.0 {source="Orphanet:3343", source="ORDO:3343/e", source="DOID:9790"}
xref: ICD9:128.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10044269 {source="Orphanet:3343", source="ORDO:3343/e"}
xref: MESH:D014120 {source="Orphanet:3343", source="ORDO:3343/e", source="MONDO:equivalentTo"}
xref: NCIT:C34758 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.20", source="DOID:9790"}
xref: Orphanet:3343 {source="MONDO:equivalentTo"}
xref: SCTID:406619001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.49"}
xref: UMLS:C0040553 {source="Orphanet:3343", source="ORDO:3343/e", source="MONDO:equivalentTo"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
relationship: disease_has_feature MONDO:0001941 {source="Wikidata"} ! blindness (disorder)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/87121004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023049
property_value: exactMatch DOID:9790
property_value: exactMatch http://identifiers.org/meddra/10044269
property_value: exactMatch http://identifiers.org/mesh/D014120
property_value: exactMatch http://identifiers.org/snomedct/406619001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040553
property_value: exactMatch NCIT:C34758
property_value: exactMatch Orphanet:3343

[Term]
id: MONDO:0005989
name: toxoplasmosis
def: "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." [NCIT:P378]
synonym: "disseminated toxoplasmosis" EXACT [DOID:9965]
synonym: "Toxoplasma gondii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxoplasma gondii disease or disorder" EXACT []
synonym: "Toxoplasma gondii infectious disease" EXACT []
xref: COHD:440653 {source="MONDO:equivalentTo"}
xref: DOID:9965 {source="EFO:0007517", source="MONDO:equivalentTo"}
xref: EFO:0007517 {source="MONDO:equivalentTo"}
xref: ICD10:B58 {source="DOID:9965", source="MONDO:equivalentTo"}
xref: ICD10:B58.9 {source="DOID:9965"}
xref: ICD9:130 {source="DOID:9965"}
xref: ICD9:130.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:130.9 {source="DOID:9965", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014123 {source="DOID:9965", source="EFO:0007517", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3418 {source="DOID:9965", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:187192000 {source="DOID:9965", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.67/1.59"}
xref: UMLS:C0040558 {source="NCIT:C3418", source="DOID:9965", source="MONDO:equivalentTo"}
is_a: MONDO:0005707 {source="DOID:9965", source="MESH:D014123", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis
property_value: closeMatch http://identifiers.org/snomedct/154423006
property_value: closeMatch http://identifiers.org/snomedct/187200007
property_value: closeMatch http://identifiers.org/snomedct/187515009
property_value: closeMatch http://identifiers.org/snomedct/266225001
property_value: closeMatch http://identifiers.org/snomedct/276203008
property_value: closeMatch http://identifiers.org/snomedct/9399000
property_value: exactMatch DOID:9965
property_value: exactMatch http://identifiers.org/mesh/D014123
property_value: exactMatch http://identifiers.org/snomedct/187192000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040558
property_value: exactMatch NCIT:C3418

[Term]
id: MONDO:0005990
name: tracheitis
alt_id: MONDO:0020691
def: "An inflammatory process affecting the wall of the trachea." [NCIT:P378]
synonym: "acute tracheitis" EXACT [DOID:9392, ICD9CM_2006:464.1]
synonym: "chronic tracheitis" EXACT [DOID:9392]
synonym: "inflammation of tracheal mucosa" EXACT []
synonym: "tracheal Inflammation" EXACT [NCIT:C78643]
synonym: "tracheal mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9392 {source="MONDO:equivalentTo", source="EFO:0007518"}
xref: EFO:0007518 {source="MONDO:equivalentTo"}
xref: ICD10:J04.1 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: ICD9:464.1 {source="DOID:9392"}
xref: MESH:D014136 {source="MONDO:equivalentTo", source="DOID:9392", source="EFO:0007518", source="MONDO:ontobio"}
xref: NCIT:C78643 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: SCTID:62994001 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: UMLS:C0040584 {source="MONDO:equivalentTo", source="DOID:9392", source="NCIT:C78643"}
xref: UMLS:C0149513 {source="MONDO:equivalentTo", source="DOID:9392", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0264322 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002567 {source="DOID:9392", source="MESH:D014136", source="NCIT:C78643/inferred"} ! tracheal disease
is_a: MONDO:0005113 {source="EFO:0007518"} ! bacterial infectious disease
is_a: MONDO:0020579 ! mucositis
is_a: MONDO:0021925 ! tracheobronchitis
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: closeMatch http://identifiers.org/snomedct/155507000
property_value: closeMatch http://identifiers.org/snomedct/195693005
property_value: closeMatch http://identifiers.org/snomedct/26650005
property_value: exactMatch DOID:9392
property_value: exactMatch http://identifiers.org/mesh/D014136
property_value: exactMatch http://identifiers.org/snomedct/62994001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264322
property_value: exactMatch NCIT:C78643

[Term]
id: MONDO:0005991
name: trench fever
def: "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." [MESH:D014205]
subset: ordo_disease {source="Orphanet:64694"}
synonym: "Bartonella quintana caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella quintana disease or disorder" EXACT []
synonym: "Bartonella quintana infectious disease" EXACT []
synonym: "bartonellosis due to Bartonella quintana infection" EXACT [Orphanet:64694]
synonym: "fever, trench" RELATED [MESH:D014205]
synonym: "fevers, trench" RELATED [MESH:D014205]
synonym: "His-Werner disease" EXACT [DOID:11101]
synonym: "quintan fever" EXACT [DOID:11101]
synonym: "shin bone fever" EXACT [DOID:11101]
synonym: "tibialgic fever" EXACT [DOID:11101]
synonym: "trench fever" EXACT [DOID:11101, ICD9CM_2006:083.1]
synonym: "trench fevers" RELATED [MESH:D014205]
synonym: "Wolhynian fever" EXACT [DOID:11101, MTHICD9_2006:083.1]
xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"}
xref: EFO:0007519 {source="MONDO:equivalentTo"}
xref: ICD10:A79.0 {source="MONDO:equivalentTo", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"}
xref: ICD9:083.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11101"}
xref: MedDRA:10044582 {source="ORDO:64694/e", source="Orphanet:64694"}
xref: MESH:D014205 {source="MONDO:equivalentTo", source="EFO:0007519", source="MONDO:ontobio", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"}
xref: Orphanet:64694 {source="MONDO:equivalentTo"}
xref: SCTID:82214002 {source="MONDO:equivalentTo", source="DOID:11101", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040830 {source="MONDO:equivalentTo", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"}
is_a: MONDO:0005664 {source="DOID:11101", source="MESH:D014205", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis
is_a: MONDO:0100120 ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:11101
property_value: exactMatch http://identifiers.org/meddra/10044582
property_value: exactMatch http://identifiers.org/mesh/D014205
property_value: exactMatch http://identifiers.org/snomedct/82214002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040830
property_value: exactMatch Orphanet:64694

[Term]
id: MONDO:0005992
name: trichinosis
def: "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." [NCIT:P378]
synonym: "Trichinella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichinella disease or disorder" EXACT []
synonym: "Trichinella infectious disease" EXACT []
synonym: "Trichinella spiralis infection" NARROW [DOID:9784, MTHICD9_2006:124]
synonym: "Trichinellosis" EXACT [NCIT:C85199]
xref: DOID:9784 {source="MONDO:equivalentTo", source="EFO:0007520"}
xref: EFO:0007520 {source="MONDO:equivalentTo"}
xref: ICD10:B75 {source="MONDO:relatedTo", source="DOID:9784"}
xref: ICD9:124 {source="DOID:9784"}
xref: NCIT:C85199 {source="MONDO:kboom-pr-0.90/0.80/0.06", source="MONDO:equivalentTo", source="DOID:9784"}
is_a: MONDO:0005745 ! Enoplea infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154415009
property_value: closeMatch http://identifiers.org/snomedct/266222003
property_value: exactMatch DOID:9784
property_value: exactMatch NCIT:C85199

[Term]
id: MONDO:0005993
name: Trichomonas vaginitis urogenital infection
def: "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." [NCIT:C35083]
synonym: "Trichomonas vaginalis caused disease of genitourinary system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis disease of genitourinary system" EXACT []
synonym: "Trichomonas vaginalis trichomoniasis" RELATED [DOID:0050269]
synonym: "Trichomonas vaginitis" EXACT [NCIT:C35083]
synonym: "urogenital infection by Trichomonas vaginalis" EXACT []
synonym: "urogenital infection caused by Trichomonas vaginalis" RELATED []
synonym: "urogenital Trichomonas" EXACT [DOID:0050269]
synonym: "urogenital trichomoniasis" RELATED []
xref: DOID:0050269 {source="MONDO:equivalentTo"}
xref: EFO:0007521 {source="MONDO:equivalentTo"}
xref: ICD10:A59.0 {source="MONDO:equivalentTo"}
xref: ICD10:A59.00 {source="DOID:0050269"}
xref: ICD9:131.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:131.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014247 {source="EFO:0007521", source="DOID:0050269", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35083 {source="DOID:0050269", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:35089004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002118 ! urinary system disease
is_a: MONDO:0002154 {source="DOID:0050269", source="EFO:0007521", source="ICD10:A59.0", source="MESH:D014247", source="MONDO:Redundant", source="NCIT:C35083", source="linkedlifedata"} ! trichomoniasis
is_a: MONDO:0021681 {source="ICD10:A59.0/inferred", source="linkedlifedata"} ! sexually transmitted disease
relationship: disease_has_feature MONDO:0002770 ! vaginal discharge
property_value: closeMatch DOID:11943
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040923
property_value: exactMatch DOID:0050269
property_value: exactMatch http://identifiers.org/mesh/D014247
property_value: exactMatch http://identifiers.org/snomedct/35089004
property_value: exactMatch NCIT:C35083

[Term]
id: MONDO:0005994
name: trichostrongyloidiasis
def: "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." [MESH:D014252]
synonym: "Trichostrongyloidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichostrongyloidea disease or disorder" EXACT []
synonym: "Trichostrongyloidea infectious disease" EXACT []
xref: DOID:1255 {source="EFO:0007522", source="MONDO:equivalentTo"}
xref: EFO:0007522 {source="MONDO:equivalentTo"}
xref: MESH:D014252 {source="EFO:0007522", source="DOID:1255", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0040947 {source="DOID:1255", source="MONDO:equivalentTo"}
is_a: MONDO:0005973 ! Strongylida infectious disease
property_value: exactMatch DOID:1255
property_value: exactMatch http://identifiers.org/mesh/D014252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040947

[Term]
id: MONDO:0005995
name: trichostrongylosis
def: "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." [MESH:D014253-modified]
synonym: "infection by Trichostrongylus" EXACT [DOID:1254]
synonym: "infection by Trichostrongylus species" EXACT [DOID:1254, MTHICD9_2006:127.6]
synonym: "Trichostrongyliasis" EXACT [DOID:1254, ICD9CM_2006:127.6]
synonym: "Trichostrongylus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichostrongylus disease or disorder" EXACT []
synonym: "Trichostrongylus infectious disease" EXACT []
xref: DOID:1254 {source="EFO:0007523", source="MONDO:equivalentTo"}
xref: EFO:0007523 {source="MONDO:equivalentTo"}
xref: ICD10:B81.2 {source="DOID:1254", source="MONDO:equivalentTo"}
xref: ICD9:127.6 {source="DOID:1254", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014253 {source="DOID:1254", source="EFO:0007523", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:33710003 {source="DOID:1254", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0040948 {source="DOID:1254", source="MONDO:equivalentTo"}
is_a: MONDO:0005994 {source="DOID:1254", source="MESH:D014253", source="MONDO:Redundant"} ! trichostrongyloidiasis
property_value: exactMatch DOID:1254
property_value: exactMatch http://identifiers.org/mesh/D014253
property_value: exactMatch http://identifiers.org/snomedct/33710003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040948

[Term]
id: MONDO:0005996
name: trichuriasis
def: "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." [NCIT:C128399]
subset: gard_rare {source="GARD:0010720"}
synonym: "infection by Trichuris trichura" EXACT [DOID:1252]
synonym: "trichocephaliasis" RELATED [GARD:0010720]
synonym: "trichuriasis infection" EXACT [DOID:1252, ICD9CM_2006:127.3]
synonym: "Trichuris trichiura caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichuris trichiura disease or disorder" EXACT []
synonym: "Trichuris trichiura infection" EXACT [DOID:1252]
synonym: "Trichuris trichiura infectious disease" EXACT []
synonym: "whipworm disease" EXACT [DOID:1252, MTHICD9_2006:127.3]
synonym: "whipworm infection" RELATED [GARD:0010720]
xref: COHD:196907 {source="MONDO:equivalentTo"}
xref: DOID:1252 {source="EFO:0007524", source="MONDO:equivalentTo"}
xref: EFO:0007524 {source="MONDO:equivalentTo"}
xref: GARD:0010720 {source="MONDO:equivalentTo"}
xref: ICD10:B79 {source="DOID:1252", source="MONDO:equivalentTo"}
xref: ICD9:127.3 {source="DOID:1252", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014257 {source="DOID:1252", source="EFO:0007524", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128399 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:3752003 {source="DOID:1252", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0040954 {source="DOID:1252", source="NCIT:C128399", source="MONDO:equivalentTo"}
is_a: MONDO:0005745 ! Enoplea infectious disease
relationship: disease_has_feature MONDO:0001357 {source="Wikidata"} ! hypochromic anemia (disease)
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
property_value: closeMatch http://identifiers.org/snomedct/154413002
property_value: closeMatch http://identifiers.org/snomedct/60570001
property_value: exactMatch DOID:1252
property_value: exactMatch http://identifiers.org/mesh/D014257
property_value: exactMatch http://identifiers.org/snomedct/3752003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040954
property_value: exactMatch NCIT:C128399
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10720/trichuriasis xsd:anyURI {source="GARD:0010720"}

[Term]
id: MONDO:0005997
name: tricuspid valve stenosis
def: "Narrowing or stricture of the tricuspid orifice of the heart." [NCIT:P378]
synonym: "tricuspid stenosis" EXACT [DOID:4078, MTHICD9_2006:397.0]
xref: DOID:4078 {source="EFO:0007525", source="MONDO:equivalentTo"}
xref: EFO:0007525 {source="MONDO:equivalentTo"}
xref: HP:0010446 {source="MONDO:otherHierarchy"}
xref: MESH:D014264 {source="DOID:4078", source="EFO:0007525", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:49915006 {source="DOID:4078", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040963 {source="DOID:4078", source="MONDO:equivalentTo"}
is_a: MONDO:0000471 {source="DOID:4078", source="linkedlifedata"} ! tricuspid valve disease
is_a: MONDO:0005561 {source="EFO:0007525"} ! aortic disease
property_value: closeMatch http://identifiers.org/snomedct/155346002
property_value: closeMatch http://identifiers.org/snomedct/266296006
property_value: exactMatch DOID:4078
property_value: exactMatch http://identifiers.org/mesh/D014264
property_value: exactMatch http://identifiers.org/snomedct/49915006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040963
property_value: exactMatch NCIT:C50783

[Term]
id: MONDO:0005998
name: trombiculiasis
def: "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." [MESH:D014323-modified]
synonym: "Trombiculidae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trombiculidae disease or disorder" EXACT []
synonym: "Trombiculidae infectious disease" EXACT []
xref: DOID:8399 {source="EFO:0007526", source="MONDO:equivalentTo"}
xref: EFO:0007526 {source="MONDO:equivalentTo"}
xref: MESH:D014323 {source="EFO:0007526", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8399"}
xref: UMLS:C0041170 {source="MONDO:equivalentTo", source="DOID:8399"}
is_a: MONDO:0004389 {source="DOID:8399", source="MESH:D014323"} ! mite infestation
property_value: exactMatch DOID:8399
property_value: exactMatch http://identifiers.org/mesh/D014323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041170

[Term]
id: MONDO:0005999
name: tuberculous empyema
def: "An empyema resulting from infection by Mycobacterium tuberculosis." [NCIT:P378]
synonym: "tuberculous empyema (& pleural)" EXACT [DOID:14305]
xref: DOID:14305 {source="EFO:0007528", source="MONDO:equivalentTo"}
xref: EFO:0007528 {source="MONDO:equivalentTo"}
xref: MESH:D004654 {source="DOID:14305", source="EFO:0007528", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34575 {source="DOID:14305", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:14527007 {source="DOID:14305", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014014 {source="DOID:14305", source="MONDO:equivalentTo", source="NCIT:C34575"}
is_a: MONDO:0005242 {source="EFO:0007528", source="MESH:D004654/inferred", source="MONDO:Redundant", source="NCIT:C34575", source="linkedlifedata", source="linkedlifedata/inferred"} ! empyema
is_a: MONDO:0005922 {source="MESH:D004654", source="MONDO:Redundant"} ! pleural tuberculosis
is_a: MONDO:0018667 {source="DOID:14305"} ! pleural empyema (disease)
property_value: closeMatch http://identifiers.org/snomedct/186184002
property_value: exactMatch DOID:14305
property_value: exactMatch http://identifiers.org/mesh/D004654
property_value: exactMatch http://identifiers.org/snomedct/14527007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014014
property_value: exactMatch NCIT:C34575

[Term]
id: MONDO:0006000
name: tuberculous peritonitis
def: "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." [MESH:D014395]
synonym: "Mycobacterium tuberculosis caused peritonitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium tuberculosis peritonitis" EXACT []
xref: COHD:194268 {source="MONDO:equivalentTo"}
xref: DOID:9801 {source="MONDO:equivalentTo", source="EFO:0007529"}
xref: EFO:0007529 {source="MONDO:equivalentTo"}
xref: ICD10:A18.31 {source="DOID:9801", source="MONDO:equivalentTo"}
xref: ICD9:014.0 {source="DOID:9801"}
xref: ICD9:014.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:014.01 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014395 {source="DOID:9801", source="MONDO:equivalentTo", source="EFO:0007529", source="MONDO:ontobio"}
xref: SCTID:44572005 {source="DOID:9801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0041325 {source="DOID:9801", source="MONDO:equivalentTo"}
is_a: MONDO:0000369 ! abdominal tuberculosis
is_a: MONDO:0004522 ! peritonitis
is_a: MONDO:0005768 {source="DOID:9801", source="EFO:0007529"} ! gastrointestinal tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/197170002
property_value: closeMatch http://identifiers.org/snomedct/31838005
property_value: exactMatch DOID:9801
property_value: exactMatch http://identifiers.org/mesh/D014395
property_value: exactMatch http://identifiers.org/snomedct/44572005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041325

[Term]
id: MONDO:0006001
name: urinary schistosomiasis
def: "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." [NCIT:P378]
synonym: "bladder schistosomiasis" EXACT [DOID:1394, NCIT:C35362]
synonym: "cystitis with bilharziasis" EXACT [DOID:1394]
synonym: "Schistosoma haematobium" EXACT [DOID:1394]
synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [DOID:1394]
synonym: "Schistosoma haematobium infection" RELATED [DOID:1394]
synonym: "Schistosoma hematobium infection" EXACT [DOID:1394, NCIT:C39294]
synonym: "Schistosoma hematobium infectious disease" EXACT [DOID:1394]
synonym: "schistosomiasis due to Schistosoma haematobium" EXACT [DOID:1394, ICD9CM_2006:120.0]
synonym: "schistosomiasis of bladder" EXACT [DOID:1394]
synonym: "urinary bladder schistosomiasis" EXACT [MONDO:patterns/location]
synonym: "urinary schistosomiasis" EXACT []
synonym: "vesical schistosomiasis" EXACT [DOID:1394, MTHICD9_2006:120.0]
xref: COHD:436350 {source="MONDO:equivalentTo"}
xref: DOID:1394 {source="MONDO:equivalentTo", source="EFO:0007530"}
xref: EFO:0007530 {source="MONDO:equivalentTo"}
xref: ICD9:120.0 {source="DOID:1394"}
xref: MESH:D012553 {source="DOID:1394", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007530"}
xref: NCIT:C39294 {source="DOID:1394", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: SCTID:236706006 {source="MONDO:equivalentTo"}
xref: UMLS:C0276926 {source="DOID:1394", source="MONDO:equivalentTo"}
xref: UMLS:C1704430 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005247 {source="linkedlifedata"} ! urinary tract infection (disease)
is_a: MONDO:0006026 {source="DOID:1394", source="MONDO:Entailed", source="MONDO:Redundant"} ! urinary bladder disease
is_a: MONDO:0015254 {source="DOID:1394", source="MESH:D012553", source="MONDO:Redundant", source="NCIT:C39294", source="linkedlifedata"} ! schistosomiasis
property_value: closeMatch http://identifiers.org/snomedct/187112004
property_value: closeMatch http://identifiers.org/snomedct/197846004
property_value: closeMatch http://identifiers.org/snomedct/53991003
property_value: closeMatch http://identifiers.org/snomedct/60979006
property_value: closeMatch NCIT:C35362
property_value: exactMatch DOID:1394
property_value: exactMatch http://identifiers.org/mesh/D012553
property_value: exactMatch http://identifiers.org/snomedct/236706006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704430
property_value: exactMatch NCIT:C39294

[Term]
id: MONDO:0006002
name: urogenital tuberculosis
def: "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." [MESH:D014401]
comment: Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass
synonym: "genitourinary system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "genitourinary tuberculosis" RELATED [DOID:2149]
xref: COHD:73686 {source="MONDO:equivalentTo"}
xref: DOID:2149 {source="MONDO:equivalentTo", source="EFO:0007531"}
xref: EFO:0007531 {source="MONDO:equivalentTo"}
xref: ICD10:A18.1 {source="DOID:2149"}
xref: ICD10:A18.10 {source="DOID:2149"}
xref: ICD9:016 {source="DOID:2149"}
xref: ICD9:016.9 {source="DOID:2149"}
xref: ICD9:016.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:016.92 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014401 {source="DOID:2149", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007531"}
xref: SCTID:4445009 {source="DOID:2149", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0041333 {source="DOID:2149", source="MONDO:equivalentTo"}
is_a: MONDO:0000368 {source="DOID:2149"} ! extrapulmonary tuberculosis
is_a: MONDO:0021145 ! disease of genitourinary system
property_value: closeMatch http://identifiers.org/snomedct/186246004
property_value: exactMatch DOID:2149
property_value: exactMatch http://identifiers.org/mesh/D014401
property_value: exactMatch http://identifiers.org/snomedct/4445009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041333

[Term]
id: MONDO:0006003
name: uterine corpus cancer
def: "A malignant neoplasm involving the body of uterus." [MONDO:DesignPattern]
comment: Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer
synonym: "body of uterus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of body of uterus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the corpus uteri" EXACT [NCIT:C61574]
synonym: "corpus uteri cancer" EXACT [DOID:9460, NCIT:C61574]
synonym: "endometrial cancer" EXACT [NCIT:C61574]
synonym: "malignant body of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of body of uterus" EXACT [MONDO:patterns/cancer]
synonym: "uterine (including endometrial) cancer" EXACT [NCIT:C61574]
synonym: "uterine corpus cancer" EXACT [NCIT:C61574]
xref: COHD:4156113 {source="MONDO:equivalentTo"}
xref: DOID:9460 {source="MONDO:equivalentTo"}
xref: EFO:0007532 {source="MONDO:equivalentTo"}
xref: ICD10:C54 {source="DOID:9460"}
xref: ICD10:C54.9 {source="DOID:9460"}
xref: ICD9:182 {source="DOID:9460"}
xref: NCIT:C61574 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.26"}
xref: SCTID:371972005 {source="MONDO:equivalentTo", source="DOID:9460"}
is_a: MONDO:0002715 {source="DOID:9460", source="MONDO:Redundant", source="MONDOLEX:0006003", source="NCIT:C61574/inferred", source="linkedlifedata"} ! uterine cancer
is_a: MONDO:0021254 {source="MONDO:Redundant", source="MONDOLEX:0006003", source="NCIT:C61574/inferred", source="linkedlifedata"} ! corpus uteri neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154526001
property_value: closeMatch http://identifiers.org/snomedct/188194001
property_value: closeMatch http://identifiers.org/snomedct/188200009
property_value: closeMatch http://identifiers.org/snomedct/269600001
property_value: closeMatch http://identifiers.org/snomedct/363442002
property_value: closeMatch http://identifiers.org/snomedct/93718007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153574
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1883486
property_value: closeMatch NCIT:C3556
property_value: exactMatch DOID:9460
property_value: exactMatch http://identifiers.org/snomedct/371972005
property_value: exactMatch NCIT:C61574

[Term]
id: MONDO:0006004
name: vasomotor rhinitis
def: "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." [NCIT:P378]
xref: COHD:4305500 {source="MONDO:equivalentTo"}
xref: DOID:4730 {source="EFO:0007533", source="MONDO:equivalentTo"}
xref: EFO:0007533 {source="MONDO:equivalentTo"}
xref: ICD10:J30.0 {source="DOID:4730", source="MONDO:equivalentTo"}
xref: MESH:D012223 {source="EFO:0007533", source="DOID:4730", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34988 {source="DOID:4730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:8229003 {source="DOID:4730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0035460 {source="DOID:4730", source="MONDO:equivalentTo", source="NCIT:C34988"}
is_a: MONDO:0011786 {source="EFO:0007533"} ! allergic rhinitis
property_value: closeMatch http://identifiers.org/snomedct/155537009
property_value: closeMatch http://identifiers.org/snomedct/266386004
property_value: exactMatch DOID:4730
property_value: exactMatch http://identifiers.org/mesh/D012223
property_value: exactMatch http://identifiers.org/snomedct/8229003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035460
property_value: exactMatch NCIT:C34988

[Term]
id: MONDO:0006005
name: Venezuelan equine encephalitis
def: "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." [NCIT:P378]
subset: gard_rare {source="GARD:0006355"}
synonym: "Venezuelan equine encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Venezuelan equine encephalitis virus disease or disorder" EXACT []
synonym: "Venezuelan equine encephalitis virus infectious disease" EXACT []
synonym: "Venezuelan equine fever" RELATED [DOID:9584, ICD9CM_2006:066.2]
xref: DOID:9584 {source="EFO:0007534", source="MONDO:equivalentTo"}
xref: EFO:0007534 {source="MONDO:equivalentTo"}
xref: GARD:0006355 {source="MONDO:equivalentTo"}
xref: ICD10:A92.2 {source="MONDO:equivalentTo", source="DOID:9584"}
xref: ICD9:066.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9584"}
xref: MESH:D004685 {source="EFO:0007534", source="MONDO:equivalentTo", source="DOID:9584", source="MONDO:ontobio"}
xref: NCIT:C35121 {source="MONDO:kboom-pr-1.00/0.79/7.63", source="MONDO:equivalentTo", source="DOID:9584"}
xref: SCTID:417067005 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo", source="DOID:9584"}
xref: UMLS:C0014078 {source="NCIT:C35121", source="MONDO:equivalentTo", source="DOID:9584"}
is_a: MONDO:0005156 {source="EFO:0007534", source="MESH:D004685/inferred"} ! encephalomyelitis
is_a: MONDO:0005643 ! Alphavirus infectious disease
is_a: MONDO:0018087 {source="NCIT:C35121"} ! viral hemorrhagic fever
is_a: MONDO:0024318 ! viral infection of central nervous system
is_a: MONDO:0100120 ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/417702007
property_value: closeMatch http://identifiers.org/snomedct/89990001
property_value: exactMatch DOID:9584
property_value: exactMatch http://identifiers.org/mesh/D004685
property_value: exactMatch http://identifiers.org/snomedct/417067005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014078
property_value: exactMatch NCIT:C35121
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis xsd:anyURI {source="GARD:0006355"}

[Term]
id: MONDO:0006006
name: verrucous carcinoma
def: "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." [NCIT:C3781]
synonym: "verrucous carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [DOID:3737]
synonym: "verrucous epidermoid carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous epidermoid cell carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous squamous carcinoma" EXACT [DOID:3737, NCIT:C3781]
synonym: "verrucous squamous cell carcinoma" EXACT [NCIT:C3781]
synonym: "warty carcinoma" EXACT [DOID:3737]
xref: DOID:3737 {source="EFO:0007535", source="MONDO:equivalentTo"}
xref: EFO:0007535 {source="MONDO:equivalentTo"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8051/3 {source="NCIT:C3781"}
xref: MESH:D018289 {source="EFO:0007535", source="MONDO:equivalentTo", source="DOID:3737", source="MONDO:ontobio"}
xref: NCIT:C3781 {source="MONDO:equivalentTo", source="DOID:3737", source="exact-label-match"}
xref: SCTID:403904009 {source="MONDO:equivalentTo", source="DOID:3737", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0206706 {source="NCIT:C3781", source="MONDO:equivalentTo", source="DOID:3737"}
is_a: MONDO:0002979 {source="NCIT:C3781"} ! papillary squamous carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189563000
property_value: closeMatch http://identifiers.org/snomedct/89906000
property_value: exactMatch DOID:3737
property_value: exactMatch http://identifiers.org/mesh/D018289
property_value: exactMatch http://identifiers.org/snomedct/403904009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206706
property_value: exactMatch NCIT:C3781

[Term]
id: MONDO:0006007
name: vesicoureteral reflux (disease)
def: "Abnormal flow of urine from the urinary bladder back into the ureters." [NCIT:P378]
synonym: "vesico-ureteral reflux" EXACT [DOID:9620]
synonym: "vesicoureteral reflux" EXACT [MONDO:ambiguous]
xref: DOID:9620 {source="EFO:0007536", source="MONDO:equivalentTo"}
xref: EFO:0007536 {source="MONDO:equivalentTo"}
xref: HP:0000076 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N13.7 {source="DOID:9620"}
xref: ICD10:N13.70 {source="DOID:9620"}
xref: ICD9:593.7 {source="DOID:9620"}
xref: MESH:D014718 {source="EFO:0007536", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9620"}
xref: OMIMPS:193000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:197811007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95", source="DOID:9620"}
xref: UMLS:C0042580 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9620"}
is_a: MONDO:0001926 {source="DOID:9620", source="linkedlifedata"} ! ureteral disease
is_a: MONDO:0006026 {source="EFO:0007536", source="MESH:D014718", source="linkedlifedata"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/155875004
property_value: closeMatch http://identifiers.org/snomedct/251994004
property_value: closeMatch http://identifiers.org/snomedct/26836002
property_value: exactMatch DOID:9620
property_value: exactMatch http://identifiers.org/mesh/D014718
property_value: exactMatch http://identifiers.org/snomedct/197811007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042580
property_value: exactMatch NCIT:C84467

[Term]
id: MONDO:0006008
name: vestibular neuronitis
def: "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" [MESH:D020338]
synonym: "epidemic neurolabyrinthitis" EXACT [DOID:12683]
synonym: "vestibular neuritis" EXACT [DOID:12683]
xref: DOID:12683 {source="EFO:0007537", source="MONDO:equivalentTo"}
xref: EFO:0007537 {source="MONDO:equivalentTo"}
xref: ICD10:A88.1 {source="DOID:12683"}
xref: ICD10:H81.2 {source="MONDO:equivalentTo", source="DOID:12683"}
xref: ICD10:H81.20 {source="DOID:12683"}
xref: ICD9:078.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:12683"}
xref: ICD9:386.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:12683"}
xref: MESH:D020338 {source="EFO:0007537", source="MONDO:equivalentTo", source="DOID:12683", source="MONDO:ontobio"}
xref: SCTID:186738001 {source="MONDO:equivalentTo", source="DOID:12683", source="MONDO:kboom-pr-0.79/0.48/0.57"}
xref: UMLS:C0751908 {source="MONDO:equivalentTo", source="DOID:12683"}
is_a: MONDO:0001563 {source="DOID:12683", source="MESH:D020338", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! vestibulocochlear nerve disease
is_a: MONDO:0002122 ! neuritis
property_value: closeMatch http://identifiers.org/snomedct/123053001
property_value: closeMatch http://identifiers.org/snomedct/155236001
property_value: closeMatch http://identifiers.org/snomedct/194356004
property_value: closeMatch http://identifiers.org/snomedct/232293008
property_value: closeMatch http://identifiers.org/snomedct/34243007
property_value: closeMatch http://identifiers.org/snomedct/43680000
property_value: exactMatch DOID:12683
property_value: exactMatch http://identifiers.org/mesh/D020338
property_value: exactMatch http://identifiers.org/snomedct/186738001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751908

[Term]
id: MONDO:0006009
name: viral encephalitis
def: "Encephalitis resulting from viral infection." [NCIT:C35302]
comment: Editor note: we place the Orphanet class here as it is implicitly viral
synonym: "epidemic encephalitis" EXACT EXCLUDE [DOID:646]
synonym: "viral encephalitis" EXACT [NCIT:C35302]
synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses encephalitis" EXACT []
xref: COHD:372547 {source="MONDO:equivalentTo"}
xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"}
xref: EFO:0007538 {source="MONDO:equivalentTo"}
xref: MedDRA:10058805 {source="ORDO:98252/e", source="Orphanet:98252"}
xref: NCIT:C35302 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.07"}
xref: Orphanet:98252 {source="MONDO:equivalentTo"}
xref: SCTID:34476008 {source="MONDO:equivalentTo"}
xref: UMLS:C0243010 {source="MONDO:equivalentTo", source="NCIT:C35302"}
is_a: MONDO:0020067 {source="MONDO:Redundant", source="NCIT:C35302", source="linkedlifedata"} ! infectious encephalitis
is_a: MONDO:0024318 ! viral infection of central nervous system
property_value: closeMatch http://identifiers.org/mesh/D004671
property_value: closeMatch http://identifiers.org/snomedct/186498004
property_value: closeMatch http://identifiers.org/snomedct/192687008
property_value: closeMatch http://identifiers.org/snomedct/20411005
property_value: closeMatch http://identifiers.org/snomedct/285756005
property_value: closeMatch http://identifiers.org/snomedct/68197003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014055
property_value: exactMatch DOID:646
property_value: exactMatch http://identifiers.org/meddra/10058805
property_value: exactMatch http://identifiers.org/snomedct/34476008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0596773
property_value: exactMatch NCIT:C35302
property_value: exactMatch Orphanet:98252

[Term]
id: MONDO:0006010
name: salmonid viral hemorrhagic septicemia
def: "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," [MESH:D031941]
xref: EFO:0007539 {source="MONDO:equivalentTo"}
xref: MESH:D031941 {source="EFO:0007539", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1135869 {source="MONDO:equivalentTo"}
is_a: MONDO:0005944 {source="MESH:D031941"} ! Rhabdoviridae infectious disease
is_a: MONDO:0024934 {source="MESH:D031941"} ! fish disease
property_value: closeMatch DOID:3568
property_value: exactMatch http://identifiers.org/mesh/D031941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135869

[Term]
id: MONDO:0006011
name: viral hepatitis
def: "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." [NCIT:P378]
comment: Editor note: consider adding term for viral
synonym: "Hepatitis viral" EXACT [NCIT:C35124]
synonym: "human viral hepatitis" EXACT [DOID:1884]
synonym: "unspecified viral hepatitis with hepatic coma" NARROW [DOID:1884, ICD9CM_2006:070.6]
synonym: "viral Hepatitis" EXACT [NCIT:C35124]
synonym: "viral hepatitis with hepatic coma" NARROW [DOID:1884]
synonym: "viral human hepatitis" EXACT [MONDO:0005343]
synonym: "Viruses caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses hepatitis" EXACT []
xref: COHD:4291005 {source="MONDO:equivalentTo"}
xref: DOID:1884 {source="MONDO:equivalentTo", source="EFO:0007540"}
xref: EFO:0004196 {source="MONDO:equivalentTo"}
xref: ICD10:B15.B19 {source="MONDO:equivalentTo"}
xref: ICD9:573.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006524 {source="DOID:1884", source="MONDO:superClassOf", source="MONDO:NonHumanEquivalent"}
xref: MESH:D006525 {source="MONDO:equivalentTo", source="EFO:0004196"}
xref: NCIT:C35124 {source="MONDO:equivalentTo", source="kboom:pr0.86-conf12.42"}
xref: SCTID:3738000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.24"}
xref: UMLS:C0019194 {source="DOID:1884", source="MONDO:notFoundInDiseaseSubset", source="MONDO:NonHumanEquivalent"}
xref: UMLS:C0042721 {source="MONDO:equivalentTo", source="NCIT:C35124"}
is_a: MONDO:0002251 {source="DOID:1884", source="MESH:D006525", source="MONDO:Redundant", source="NCIT:C35124"} ! hepatitis
is_a: MONDO:0005108 {source="EFO:0004196", source="MESH:D006525", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! viral infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019194
property_value: exactMatch DOID:1884
property_value: exactMatch http://identifiers.org/mesh/D006525
property_value: exactMatch http://identifiers.org/snomedct/3738000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042721
property_value: exactMatch NCIT:C35124
property_value: excluded_synonym "animal viral hepatitis" xsd:string {source="DOID:1884"}
property_value: narrowMatch http://linkedlifedata.com/resource/umls/id/C0019195

[Term]
id: MONDO:0006012
name: viral pneumonia
def: "Inflammation of the lung parenchyma that is caused by a viral infection." [MESH:D011024]
synonym: "Viruses caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses pneumonia" EXACT []
xref: COHD:261326 {source="MONDO:equivalentTo"}
xref: DOID:10533 {source="MONDO:equivalentTo", source="EFO:0007541"}
xref: EFO:0007541 {source="MONDO:equivalentTo"}
xref: ICD10:J12.9 {source="DOID:10533"}
xref: ICD9:480 {source="DOID:10533"}
xref: ICD9:480.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:480.9 {source="DOID:10533", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011024 {source="DOID:10533", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007541"}
xref: SCTID:75570004 {source="DOID:10533", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032310 {source="DOID:10533", source="MONDO:equivalentTo"}
is_a: MONDO:0005249 {source="DOID:10533", source="EFO:0007541", source="MESH:D011024", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia
is_a: MONDO:0024352 ! viral respiratory tract infection
property_value: closeMatch http://identifiers.org/snomedct/155549005
property_value: closeMatch http://identifiers.org/snomedct/195880002
property_value: closeMatch http://identifiers.org/snomedct/195883000
property_value: exactMatch DOID:10533
property_value: exactMatch http://identifiers.org/mesh/D011024
property_value: exactMatch http://identifiers.org/snomedct/75570004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032310

[Term]
id: MONDO:0006013
name: visna disease
def: "Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie." [MESH:D016182]
synonym: "Visna/maedi virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Visna/maedi virus disease or disorder" EXACT []
synonym: "Visna/maedi virus infectious disease" EXACT []
xref: EFO:0007542 {source="MONDO:equivalentTo"}
xref: MESH:D016182 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007542"}
xref: UMLS:C0080323 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007542", source="MESH:D016182/inferred"} ! non-human animal disease
is_a: MONDO:0022034 ! lentivirus infection
property_value: closeMatch DOID:4318
property_value: exactMatch http://identifiers.org/mesh/D016182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080323

[Term]
id: MONDO:0006014
name: vulvovaginal candidiasis
def: "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." [NCIT:P378]
synonym: "candidal vulvovaginitis" EXACT [DOID:2272]
synonym: "candidal: [vulvovaginitis NOS] or [cervix]" EXACT [DOID:2272]
synonym: "candidal: cervix" EXACT [DOID:2272]
synonym: "candidiasis of vulva and vagina" EXACT [DOID:2272, ICD9CM_2006:112.1]
synonym: "monilial vulvovaginitis" EXACT [DOID:2272, MTHICD9_2006:112.1]
synonym: "vaginal candidiasis" EXACT [NCIT:C2914]
synonym: "vulvovaginal candidiasis" EXACT [DOID:2272, NCIT:C2914]
xref: COHD:4217669 {source="MONDO:equivalentTo"}
xref: DOID:2272 {source="EFO:0007543", source="MONDO:equivalentTo"}
xref: EFO:0007543 {source="MONDO:equivalentTo"}
xref: ICD10:B37.3 {source="MONDO:equivalentTo", source="DOID:2272"}
xref: ICD9:112.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:2272"}
xref: MESH:D002181 {source="EFO:0007543", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2272"}
xref: NCIT:C2914 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2272"}
xref: SCTID:72605008 {source="MONDO:equivalentTo", source="DOID:2272", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0700345 {source="MONDO:equivalentTo", source="DOID:2272"}
is_a: MONDO:0000879 ! cutaneous candidiasis
is_a: MONDO:0007019 ! vulvovaginitis
is_a: MONDO:0023557 ! infective vaginitis
property_value: closeMatch http://identifiers.org/snomedct/154404004
property_value: closeMatch http://identifiers.org/snomedct/187009004
property_value: closeMatch http://identifiers.org/snomedct/266155003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006852
property_value: exactMatch DOID:2272
property_value: exactMatch http://identifiers.org/mesh/D002181
property_value: exactMatch http://identifiers.org/snomedct/72605008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700345
property_value: exactMatch NCIT:C2914

[Term]
id: MONDO:0006015
name: Waterhouse-Friderichsen syndrome
def: "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:100067"}
synonym: "fatal pneumococcal Waterhouse-Friderichsen syndrome" RELATED [GARD:0009449]
synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931, MTHICD9_2006:036.3]
synonym: "Waterhouse–Friderichsen syndrome" RELATED [GARD:0009449]
synonym: "WFS" EXACT [DOID:9931]
xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"}
xref: EFO:0007544 {source="MONDO:equivalentTo"}
xref: GARD:0009449 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A39.1 {source="MONDO:equivalentTo"}
xref: ICD10:A39.1+ {source="ORDO:100067/e", source="Orphanet:100067"}
xref: ICD10:E35.1* {source="ORDO:100067/e", source="Orphanet:100067"}
xref: ICD9:036.3 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10047847 {source="ORDO:100067/e", source="Orphanet:100067"}
xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="ORDO:100067/e", source="Orphanet:100067", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85225 {source="DOID:9931", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:100067 {source="MONDO:equivalentTo"}
xref: SCTID:36102002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0043068 {source="DOID:9931", source="ORDO:100067/e", source="Orphanet:100067", source="MONDO:equivalentTo", source="NCIT:C85225"}
is_a: MONDO:0002254 {source="MONDOLEX:0006015", source="NCIT:C85225"} ! syndromic disease
is_a: MONDO:0019801 {source="Orphanet:100067"} ! acute adrenal insufficiency
property_value: closeMatch http://identifiers.org/snomedct/154709005
property_value: closeMatch http://identifiers.org/snomedct/267484005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1403891
property_value: exactMatch DOID:9931
property_value: exactMatch http://identifiers.org/meddra/10047847
property_value: exactMatch http://identifiers.org/mesh/D014884
property_value: exactMatch http://identifiers.org/snomedct/36102002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043068
property_value: exactMatch NCIT:C85225
property_value: exactMatch Orphanet:100067

[Term]
id: MONDO:0006016
name: obsolete West Nile encephalitis
is_obsolete: true
replaced_by: MONDO:0019376

[Term]
id: MONDO:0006017
name: obsolete western equine encephalitis
is_obsolete: true
replaced_by: MONDO:0019380

[Term]
id: MONDO:0006018
name: Wissler syndrome
def: "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." [MESH:D014924]
synonym: "Wissler syndrome" EXACT [DOID:3047]
synonym: "Wissler's subsepsis allergica" EXACT [DOID:3047]
synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Wissler-Fanconi syndrome" EXACT EXCLUDE [DOID:3047]
synonym: "Wissler-Fanconi syndrome (finding)" EXACT [DOID:3047]
xref: DOID:3047 {source="EFO:0007547", source="MONDO:equivalentTo"}
xref: EFO:0007547 {source="MONDO:equivalentTo"}
xref: MESH:D014924 {source="DOID:3047", source="EFO:0007547", source="MONDO:equivalentTo"}
xref: UMLS:C0043195 {source="DOID:3047", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002254 {source="DOID:3047", source="MONDOLEX:0006018"} ! syndromic disease
is_a: MONDO:0017767 {source="MESH:D014924"} ! rheumatic fever
property_value: exactMatch DOID:3047
property_value: exactMatch http://identifiers.org/mesh/D014924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043195

[Term]
id: MONDO:0006019
name: yaws
def: "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." [NCIT:P378]
subset: gard_rare {source="GARD:0007913"}
synonym: "Bouba" EXACT [DOID:10371]
synonym: "endemic treponematoses" RELATED [GARD:0007913]
synonym: "frambesia" EXACT [DOID:10371]
synonym: "frambesia tropica" EXACT [DOID:10371]
synonym: "frambosie" EXACT [DOID:10371]
synonym: "polypapilloma tropicum" EXACT [DOID:10371]
synonym: "thymosis" EXACT [DOID:10371]
synonym: "Treponema pallidum subsp. pertenue caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum subsp. pertenue disease or disorder" EXACT []
synonym: "Treponema pallidum subsp. pertenue infectious disease" EXACT []
synonym: "Treponema pertenue infection" RELATED [GARD:0007913]
xref: COHD:432829 {source="MONDO:equivalentTo"}
xref: DOID:10371 {source="EFO:0007548", source="MONDO:equivalentTo"}
xref: EFO:0007548 {source="MONDO:equivalentTo"}
xref: GARD:0007913 {source="MONDO:equivalentTo"}
xref: ICD10:A66 {source="MONDO:equivalentTo", source="DOID:10371"}
xref: ICD10:A66.9 {source="DOID:10371"}
xref: ICD9:102 {source="DOID:10371"}
xref: ICD9:102.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:102.9 {source="MONDO:equivalentTo", source="DOID:10371", source="i2s"}
xref: MESH:D015001 {source="EFO:0007548", source="MONDO:equivalentTo", source="DOID:10371", source="MONDO:ontobio"}
xref: NCIT:C41353 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10371"}
xref: SCTID:70647001 {source="MONDO:equivalentTo", source="DOID:10371", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0043388 {source="MONDO:equivalentTo", source="DOID:10371", source="NCIT:C41353"}
is_a: MONDO:0005976 ! syphilis
property_value: closeMatch http://identifiers.org/snomedct/154391003
property_value: closeMatch http://identifiers.org/snomedct/186974004
property_value: closeMatch http://identifiers.org/snomedct/187372000
property_value: closeMatch http://identifiers.org/snomedct/266213004
property_value: exactMatch DOID:10371
property_value: exactMatch http://identifiers.org/mesh/D015001
property_value: exactMatch http://identifiers.org/snomedct/70647001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043388
property_value: exactMatch NCIT:C41353
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7913/yaws xsd:anyURI {source="GARD:0007913"}

[Term]
id: MONDO:0006020
name: obsolete Zollinger-Ellison syndrome (disease)
is_obsolete: true
replaced_by: MONDO:0019610

[Term]
id: MONDO:0006021
name: Prinzmetal angina
def: "a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma." [https://en.wikipedia.org/wiki/Prinzmetal%27s_angina]
comment: Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). {source="EFO:1000013"}
synonym: "angina inversa" EXACT [DOID:0111151]
synonym: "Prinzmetal's angina" EXACT [DOID:0111151]
synonym: "Prinzmetal's variant angina" EXACT [DOID:0111151]
synonym: "variant angina" EXACT [DOID:0111151]
synonym: "variant angina pectoris" EXACT [DOID:0111151]
xref: DOID:0111151 {source="MONDO:equivalentTo"}
xref: EFO:1000013 {source="MONDO:equivalentTo"}
xref: GARD:0007465 {source="MONDO:equivalentTo"}
xref: ICD9:413.1 {source="MONDO:equivalentTo", source="EFO:1000013", source="i2s"}
xref: MESH:D000788 {source="DOID:0111151", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:87343002 {source="MONDO:equivalentTo", source="EFO:1000013", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0002963 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2931193 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: Wikipedia:Prinzmetal's_angina {source="EFO:1000013"}
is_a: MONDO:0005356 {source="DOID:0111151", source="linkedlifedata"} ! coronary vasospasm
property_value: exactMatch DOID:0111151
property_value: exactMatch http://identifiers.org/mesh/D000788
property_value: exactMatch http://identifiers.org/snomedct/87343002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931193
property_value: exactMatch NCIT:C66915

[Term]
id: MONDO:0006022
name: acidosis disorder
def: "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." [NCIT:P378]
synonym: "acidosis" EXACT [MONDO:ambiguous]
xref: COHD:435517 {source="MONDO:equivalentTo"}
xref: EFO:1000014 {source="MONDO:equivalentTo"}
xref: HP:0001941 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:276.2 {source="EFO:1000014", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:51387008 {source="EFO:1000014", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.24"}
is_a: MONDO:0041261 ! disorder of acid-base balance
relationship: excluded_subClassOf MONDO:0005570 {source="EFO:1000014"} ! hematologic disease
property_value: closeMatch http://identifiers.org/mesh/D000138
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001122
property_value: exactMatch http://identifiers.org/snomedct/51387008
property_value: exactMatch NCIT:C83504

[Term]
id: MONDO:0006025
name: autosomal recessive disease
def: "Autosomal recessive form of disease." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive disease or disorder" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive hereditary disease" EXACT []
synonym: "autosomal recessive hereditary disorder" EXACT []
synonym: "autosomal recessive inherited disease" EXACT []
synonym: "autosomal recessive inherited disorder" EXACT []
synonym: "disease or disorder, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "recessive hereditary disorder (autosomal)" RELATED []
xref: DOID:0050737 {source="MONDO:equivalentTo"}
xref: EFO:1000017 {source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:85995004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265388 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000429 {source="DOID:0050737", source="linkedlifedata"} ! autosomal genetic disease
property_value: exactMatch DOID:0050737
property_value: exactMatch http://identifiers.org/snomedct/85995004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265388

[Term]
id: MONDO:0006026
name: urinary bladder disease
def: "A disease involving the urinary bladder." [MONDO:DesignPattern]
synonym: "bladder disease" EXACT [NCIT:C2900]
synonym: "bladder disorder" EXACT [NCIT:C2900]
synonym: "disease of urinary bladder" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of urinary bladder" EXACT []
synonym: "disorder of urinary bladder" EXACT [MONDO:patterns/location_top]
synonym: "disorder of urinary bladder" RELATED [MONDO:patterns/location_top]
synonym: "urinary bladder disease" EXACT [DOID:365, MONDO:patterns/location]
synonym: "urinary bladder disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urinary bladder disorder" EXACT [NCIT:C2900]
xref: COHD:201337 {source="MONDO:equivalentTo"}
xref: DOID:365 {source="MONDO:equivalentTo", source="EFO:1000018"}
xref: EFO:1000018 {source="MONDO:equivalentTo"}
xref: ICD10:N32.9 {source="DOID:365"}
xref: ICD9:596.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:596.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:365"}
xref: MESH:D001745 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:365"}
xref: NCIT:C2900 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000018", source="DOID:365"}
xref: SCTID:42643001 {source="MONDO:equivalentTo", source="DOID:365"}
xref: UMLS:C0005686 {source="MONDO:equivalentTo", source="EFO:1000018", source="DOID:365", source="NCIT:C2900"}
is_a: MONDO:0002118 {source="DOID:365", source="MESH:D001745", source="MONDO:Redundant", source="NCIT:C2900", source="linkedlifedata/inferred"} ! urinary system disease
property_value: closeMatch http://identifiers.org/snomedct/155886002
property_value: closeMatch http://identifiers.org/snomedct/155890000
property_value: closeMatch http://identifiers.org/snomedct/197897007
property_value: closeMatch http://identifiers.org/snomedct/266630005
property_value: exactMatch DOID:365
property_value: exactMatch http://identifiers.org/mesh/D001745
property_value: exactMatch http://identifiers.org/snomedct/42643001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005686
property_value: exactMatch NCIT:C2900

[Term]
id: MONDO:0006027
name: breast synovial sarcoma
def: "A synovial sarcoma (disease) that involves the breast." [MONDO:patterns/location]
synonym: "breast synovial sarcoma (disease)" EXACT [MONDO:patterns/location]
xref: EFO:1000019 {source="MONDO:equivalentTo"}
is_a: MONDO:0002490 ! breast sarcoma
is_a: MONDO:0010434 {source="EFO:1000019", source="MONDO:Entailed", source="MONDO:Redundant"} ! synovial sarcoma (disease)

[Term]
id: MONDO:0006028
name: cecum adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the caecum" [MONDO:DesignPattern]
synonym: "adenocarcinoma of cecum" EXACT [DOID:3039, NCIT:C5543]
synonym: "adenocarcinoma of the cecum" EXACT [NCIT:C5543]
synonym: "caecum adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "cecal adenocarcinoma" EXACT [DOID:3039, NCIT:C5543]
synonym: "cecum adenocarcinoma" EXACT [NCIT:C5543]
xref: DOID:3039 {source="EFO:1000020", source="MONDO:equivalentTo"}
xref: EFO:1000020 {source="MONDO:equivalentTo"}
xref: NCIT:C5543 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039", source="exact-label-match"}
xref: SCTID:413446001 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039", source="MONDO:kboom-pr-0.96/0.92/0.06"}
xref: UMLS:C1332866 {source="EFO:1000020", source="MONDO:equivalentTo", source="NCIT:C5543", source="DOID:3039"}
is_a: MONDO:0002271 {source="MONDO:Redundant", source="NCIT:C5543", source="OWLReasoner:2017"} ! colon adenocarcinoma
is_a: MONDO:0006029 {source="DOID:3039", source="MONDO:Redundant", source="MONDOLEX:0006028", source="NCIT:C5543"} ! cecum carcinoma
property_value: exactMatch DOID:3039
property_value: exactMatch http://identifiers.org/snomedct/413446001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332866
property_value: exactMatch NCIT:C5543

[Term]
id: MONDO:0006029
name: cecum carcinoma
def: "A carcinoma that arises from epithelial cells of the caecum" [MONDO:DesignPattern]
synonym: "caecum carcinoma" EXACT [DOID:1519, MONDO:patterns/location]
synonym: "carcinoma of caecum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of cecum" EXACT [DOID:1519, NCIT:C3491]
synonym: "carcinoma of the cecum" EXACT [NCIT:C3491]
synonym: "cecal cancer" EXACT [DOID:1519, NCIT:C3491]
synonym: "cecum cancer" EXACT [NCIT:C3491]
synonym: "cecum carcinoma" EXACT [NCIT:C3491]
xref: DOID:1519 {source="EFO:1000021", source="MONDO:equivalentTo"}
xref: EFO:1000021 {source="MONDO:equivalentTo"}
xref: NCIT:C3491 {source="EFO:1000021", source="MONDO:equivalentTo", source="DOID:1519"}
xref: SCTID:255081007 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo", source="DOID:1519"}
xref: UMLS:C0149640 {source="NCIT:C3491", source="EFO:1000021", source="MONDO:equivalentTo", source="DOID:1519"}
is_a: MONDO:0002032 {source="MONDO:Redundant", source="NCIT:C3491", source="OWLReasoner:2017"} ! colon carcinoma
is_a: MONDO:0002033 {source="DOID:1519", source="MONDO:Redundant", source="MONDOLEX:0006029", source="NCIT:C3491"} ! cecum cancer
property_value: closeMatch http://identifiers.org/snomedct/154459000
property_value: closeMatch http://identifiers.org/snomedct/187756005
property_value: closeMatch http://identifiers.org/snomedct/269538009
property_value: exactMatch DOID:1519
property_value: exactMatch http://identifiers.org/snomedct/255081007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149640
property_value: exactMatch NCIT:C3491

[Term]
id: MONDO:0006030
name: chronic cystitis
def: "Recurrent infections of the urinary bladder." [NCIT:P378]
synonym: "cystitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:201621 {source="MONDO:equivalentTo"}
xref: DOID:1680 {source="EFO:1000023", source="MONDO:equivalentTo"}
xref: EFO:1000023 {source="MONDO:equivalentTo"}
xref: ICD10:N30.2 {source="DOID:1680"}
xref: ICD9:595.2 {source="DOID:1680", source="MONDO:relatedTo", source="EFO:1000023", source="i2s"}
xref: NCIT:C27008 {source="EFO:1000023", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:33655002 {source="EFO:1000023", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0221763 {source="EFO:1000023", source="MONDO:equivalentTo", source="NCIT:C27008"}
is_a: MONDO:0006032 {source="DOID:1680", source="EFO:1000023", source="MONDO:Redundant", source="NCIT:C27008", source="linkedlifedata"} ! cystitis
property_value: closeMatch http://identifiers.org/snomedct/197839008
property_value: closeMatch http://identifiers.org/snomedct/197842002
property_value: closeMatch http://identifiers.org/snomedct/198536006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156268
property_value: exactMatch DOID:1680
property_value: exactMatch http://identifiers.org/snomedct/33655002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221763
property_value: exactMatch NCIT:C27008

[Term]
id: MONDO:0006031
name: chronic rhinosinusitis
def: "Chronic form of sinusitis." [MONDO:patterns/chronic]
synonym: "chronic sinusitis" EXACT []
synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: EFO:1000024 {source="MONDO:equivalentTo"}
xref: ICD9:473.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:473.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35151 {source="MONDO:equivalentTo"}
xref: PMID:25838086 {source="EFO:1000024"}
xref: SCTID:40055000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C0149516 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005961 ! sinusitis
property_value: exactMatch http://identifiers.org/snomedct/40055000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149516
property_value: exactMatch NCIT:C35151

[Term]
id: MONDO:0006032
name: cystitis
def: "Inflammation of the urinary bladder." [NCIT:P378]
synonym: "bladder infection" EXACT [NCIT:C26738]
synonym: "inflammation of urinary bladder" EXACT []
synonym: "urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:195588 {source="MONDO:equivalentTo"}
xref: DOID:1679 {source="EFO:1000025", source="MONDO:equivalentTo"}
xref: EFO:1000025 {source="MONDO:equivalentTo"}
xref: ICD10:N30 {source="DOID:1679"}
xref: ICD10:N30.9 {source="DOID:1679"}
xref: ICD9:595 {source="EFO:1000025", source="DOID:1679"}
xref: ICD9:595.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:595.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1679"}
xref: MESH:D003556 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679", source="MONDO:ontobio"}
xref: NCIT:C26738 {source="EFO:1000025", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1679"}
xref: SCTID:38822007 {source="EFO:1000025", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1679"}
xref: UMLS:C0010692 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679", source="NCIT:C26738"}
is_a: MONDO:0006026 {source="DOID:1679", source="EFO:1000025", source="MESH:D003556", source="MONDO:Redundant", source="NCIT:C26738/inferred", source="linkedlifedata"} ! urinary bladder disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155882000
property_value: closeMatch http://identifiers.org/snomedct/155885003
property_value: closeMatch http://identifiers.org/snomedct/197857009
property_value: closeMatch http://identifiers.org/snomedct/266629000
property_value: exactMatch DOID:1679
property_value: exactMatch http://identifiers.org/mesh/D003556
property_value: exactMatch http://identifiers.org/snomedct/38822007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010692
property_value: exactMatch NCIT:C26738

[Term]
id: MONDO:0006033
name: diffuse intrinsic pontine glioma
def: "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." [NCIT:P378]
subset: gard_rare {source="GARD:0013075"}
subset: ordo_disease
synonym: "DIPG" EXACT [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188]
synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075]
xref: EFO:1000026 {source="MONDO:equivalentTo"}
xref: GARD:0013075 {source="MONDO:equivalentTo"}
xref: NCIT:C94764 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000026"}
xref: ONCOTREE:DIPG {source="MONDO:equivalentTo"}
xref: Orphanet:497188 {source="MONDO:equivalentTo"}
xref: UMLS:C2986658 {source="NCIT:C94764", source="MONDO:equivalentTo", source="EFO:1000026"}
is_a: MONDO:0003869 {source="NCIT:C94764"} ! childhood brain stem glioma
relationship: excluded_subClassOf MONDO:0016680 {source="Orphanet:497188"} ! high grade astrocytic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986658
property_value: exactMatch NCIT:C94764
property_value: exactMatch Orphanet:497188
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma xsd:anyURI {source="GARD:0013075"}

[Term]
id: MONDO:0006034
name: gastric adenosquamous carcinoma
def: "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." [NCIT:C5474]
synonym: "adenosquamous carcinoma of stomach" EXACT [DOID:5635, NCIT:C5474]
synonym: "adenosquamous carcinoma of the stomach" EXACT [NCIT:C5474]
synonym: "gastric (stomach) adenosquamous cancer" EXACT [NCIT:C5474]
synonym: "gastric adenosquamous carcinoma" EXACT [NCIT:C5474]
synonym: "STAS" RELATED [ONCOTREE:STAS]
synonym: "stomach adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5635 {source="MONDO:equivalentTo", source="EFO:1000029"}
xref: EFO:1000029 {source="MONDO:equivalentTo"}
xref: NCIT:C5474 {source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029", source="exact-label-match"}
xref: ONCOTREE:STAS {source="MONDO:equivalentTo"}
xref: UMLS:C1333761 {source="NCIT:C5474", source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029"}
is_a: MONDO:0006074 {source="DOID:5635", source="MONDO:Redundant", source="MONDOLEX:0006034", source="NCIT:C5474"} ! adenosquamous carcinoma
is_a: MONDO:0006230 {source="DOID:5635", source="MONDO:Entailed", source="MONDO:Redundant"} ! gastric squamous cell carcinoma
property_value: exactMatch DOID:5635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333761
property_value: exactMatch NCIT:C5474

[Term]
id: MONDO:0006035
name: gastric tubular adenocarcinoma
def: "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." [NCIT:C5473]
synonym: "gastric tubular adenocarcinoma" EXACT [NCIT:C5473]
synonym: "stomach tubular adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "tubular adenocarcinoma of stomach" EXACT [DOID:6595, NCIT:C5473]
synonym: "tubular adenocarcinoma of the stomach" EXACT [NCIT:C5473]
synonym: "tubular stomach adenocarcinoma" RELATED [ONCOTREE:TSTAD]
xref: DOID:6595 {source="EFO:1000030", source="MONDO:equivalentTo"}
xref: EFO:1000030 {source="MONDO:equivalentTo"}
xref: NCIT:C5473 {source="EFO:1000030", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:6595"}
xref: ONCOTREE:TSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1333791 {source="EFO:1000030", source="NCIT:C5473", source="MONDO:equivalentTo", source="DOID:6595"}
is_a: MONDO:0005036 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="MONDOLEX:0006035", source="NCIT:C5473/inferred", source="ONCOTREE:TSTAD"} ! gastric adenocarcinoma
is_a: MONDO:0005606 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="MONDOLEX:0006035", source="NCIT:C5473"} ! tubular adenocarcinoma
property_value: exactMatch DOID:6595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333791
property_value: exactMatch NCIT:C5473

[Term]
id: MONDO:0006036
name: granulosa cell tumor
def: "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." [NCIT:C3070]
synonym: "granulosa cell neoplasm" EXACT [DOID:2999, NCIT:C3070]
synonym: "granulosa cell neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "granulosa cell tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3070]
synonym: "granulosa cell tumor, adult type" EXACT [DOID:2999]
synonym: "granulosa cell tumor, adult type (morphologic abnormality)" EXACT [DOID:2999]
synonym: "granulosa cell tumor, undetermined" RELATED [NCIT:C3070]
synonym: "granulosa cell tumour, sarcomatoid" EXACT [DOID:2999]
synonym: "GRCT" RELATED [ONCOTREE:GRCT]
synonym: "malignant granulosa cell neoplasm" EXACT EXCLUDE [DOID:2999]
synonym: "neoplasm of granulosa cell" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of granulosa cell" EXACT [MONDO:patterns/neoplasm]
xref: DOID:2999 {source="EFO:1000032", source="MONDO:equivalentTo"}
xref: EFO:1000032 {source="MONDO:equivalentTo"}
xref: MESH:D006106 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999"}
xref: NCIT:C3070 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999", source="NCIT:C3070"}
xref: ONCOTREE:GRCT {source="MONDO:equivalentTo"}
xref: UMLS:C0018206 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999", source="NCIT:C3070"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C3070/inferred", source="OWLReasoner:2017"} ! endocrine gland neoplasm
is_a: MONDO:0006055 {source="DOID:2999", source="EFO:1000032", source="NCIT:C3070"} ! sex cord-stromal tumor
property_value: closeMatch http://identifiers.org/snomedct/18861007
property_value: closeMatch http://identifiers.org/snomedct/189734000
property_value: closeMatch http://identifiers.org/snomedct/46585005
property_value: closeMatch NCIT:C4205
property_value: exactMatch DOID:2999
property_value: exactMatch http://identifiers.org/mesh/D006106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018206
property_value: exactMatch NCIT:C3070

[Term]
id: MONDO:0006037
name: hydrolethalus syndrome
def: "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." [Orphanet:2189]
subset: gard_rare {source="GARD:0006683"}
subset: ordo_malformation_syndrome {source="Orphanet:2189"}
synonym: "HLS" RELATED [GARD:0006683]
synonym: "hydrolethalus" RELATED [Orphanet:2189]
synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779]
xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"}
xref: EFO:1000033 {source="MONDO:equivalentTo"}
xref: GARD:0006683 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2189", source="EFO:1000033", source="DOID:0050779", source="ORDO:2189/attributed", source="ORDO:2189/ntbt"}
xref: MESH:C536079 {source="ORDO:2189/e", source="Orphanet:2189", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:236680 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2189 {source="MONDO:equivalentTo", source="DOID:0050779"}
xref: SCTID:721232000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2931104 {source="ORDO:2189/e", source="Orphanet:2189", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050779", source="EFO:1000033", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015335 {source="Orphanet:2189"} ! orofacial clefting syndrome
is_a: MONDO:0017120 {source="Orphanet:2189"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:2189", source="Orphanet:2189/inferred"} ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0050779
property_value: exactMatch http://identifiers.org/mesh/C536079
property_value: exactMatch http://identifiers.org/snomedct/721232000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931104
property_value: exactMatch Orphanet:2189
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome xsd:anyURI {source="GARD:0006683"}

[Term]
id: MONDO:0006038
name: indeterminate colitis
def: "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." [EFO:1000034]
synonym: "colitis of indeterminate type" EXACT [NCIT:C27110]
xref: EFO:1000034 {source="MONDO:equivalentTo"}
xref: ICD10:K52.3 {source="MONDO:equivalentTo"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27110 {source="EFO:1000034", source="MONDO:equivalentTo"}
xref: SCTID:235746007 {source="EFO:1000034", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0341332 {source="NCIT:C27110", source="EFO:1000034", source="MONDO:equivalentTo"}
is_a: MONDO:0005292 {source="MONDO:cjm", source="linkedlifedata"} ! colitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/235746007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341332
property_value: exactMatch NCIT:C27110

[Term]
id: MONDO:0006039
name: infectious colitis
def: "A viral or bacterial infectious process affecting the large intestine." [NCIT:C78359]
synonym: "infectious colitis" EXACT [NCIT:C78359]
xref: EFO:1000035 {source="MONDO:equivalentTo"}
xref: NCIT:C78359 {source="MONDO:equivalentTo", source="EFO:1000035", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:39341005 {source="MONDO:equivalentTo", source="EFO:1000035", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0277524 {source="MONDO:equivalentTo", source="EFO:1000035", source="NCIT:C78359"}
is_a: MONDO:0005292 {source="EFO:1000035", source="MONDO:Redundant", source="NCIT:C78359", source="linkedlifedata"} ! colitis (disease)
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/snomedct/39341005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277524
property_value: exactMatch NCIT:C78359

[Term]
id: MONDO:0006040
name: lactic acidosis
def: "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia." [NCIT:P378]
xref: MESH:D000140 {source="MONDO:equivalentTo"}
xref: SCTID:91273001 {source="MONDO:equivalentTo"}
xref: UMLS:C0001125 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
property_value: exactMatch http://identifiers.org/mesh/D000140
property_value: exactMatch http://identifiers.org/snomedct/91273001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001125
property_value: exactMatch NCIT:C98969

[Term]
id: MONDO:0006041
name: lung carcinoid tumor
def: "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." [NCIT:C4038]
synonym: "carcinoid tumor (disease) of lung" EXACT []
synonym: "carcinoid tumor of lung" EXACT [NCIT:C4038]
synonym: "carcinoid tumor of the lung" EXACT [NCIT:C4038]
synonym: "lung carcinoid" RELATED [ONCOTREE:LUCA]
synonym: "lung carcinoid tumor" EXACT [NCIT:C4038]
synonym: "lung carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "pulmonary carcinoid tumor" EXACT [NCIT:C4038]
xref: EFO:1000037 {source="MONDO:equivalentTo"}
xref: NCIT:C4038 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000037", source="exact-label-match"}
xref: ONCOTREE:LUCA {source="MONDO:equivalentTo"}
xref: SCTID:254627002 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0280089 {source="MONDO:equivalentTo", source="NCIT:C4038", source="EFO:1000037"}
is_a: MONDO:0005369 {source="MONDO:Redundant", source="MONDOLEX:0006041", source="NCIT:C4038/inferred", source="linkedlifedata"} ! carcinoid tumor (disease)
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C4038", source="ONCOTREE:LUCA", source="linkedlifedata"} ! lung neuroendocrine neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254627002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280089
property_value: exactMatch NCIT:C4038

[Term]
id: MONDO:0006042
name: meningeal tuberculosis
def: "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." [NCIT:P378]
synonym: "TB meningitis" RELATED [GARD:0007828]
xref: EFO:1000039 {source="MONDO:equivalentTo"}
xref: GARD:0007828 {source="shared-xref", source="MONDO:equivalentTo"}
xref: MESH:D014390 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84888 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000039"}
xref: UMLS:C0041318 {source="NCIT:C84888", source="MONDO:equivalentTo", source="EFO:1000039"}
is_a: MONDO:0005696 ! central nervous system tuberculosis
is_a: MONDO:0006670 ! bacterial meningitis
property_value: exactMatch http://identifiers.org/mesh/D014390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041318
property_value: exactMatch NCIT:C84888

[Term]
id: MONDO:0006043
name: metaplastic breast carcinoma
def: "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." [NCIT:C5164]
subset: ordo_disease {source="Orphanet:213531"}
synonym: "breast metaplastic carcinoma" RELATED [DOID:4680]
synonym: "metaplastic breast cancer" RELATED [GARD:0010804]
synonym: "metaplastic breast carcinoma" EXACT [NCIT:C5164]
synonym: "metaplastic carcinoma of breast" EXACT [DOID:4680, NCIT:C5164]
synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164]
xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"}
xref: EFO:1000040 {source="MONDO:equivalentTo"}
xref: GARD:0010804 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C50.0 {source="Orphanet:213531", source="ORDO:213531/btnt"}
xref: ICD10:C50.1 {source="Orphanet:213531", source="ORDO:213531/btnt"}
xref: ICD10:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"}
xref: ICD10:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"}
xref: ICD10:C50.4 {source="Orphanet:213531", source="ORDO:213531/btnt"}
xref: ICD10:C50.5 {source="Orphanet:213531", source="ORDO:213531/btnt"}
xref: ICD10:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"}
xref: ICD10:C50.8 {source="Orphanet:213531", source="ORDO:213531/btnt"}
xref: NCIT:C5164 {source="EFO:1000040", source="MONDO:equivalentTo", source="DOID:4680", source="exact-label-match"}
xref: ONCOTREE:MBC {source="MONDO:equivalentTo"}
xref: Orphanet:213531 {source="MONDO:equivalentTo"}
xref: SCTID:763479005 {source="MONDO:equivalentTo"}
xref: UMLS:C1334708 {source="Orphanet:213531", source="EFO:1000040", source="MEDGEN:kboom-pr98-c99", source="NCIT:C5164", source="MONDO:equivalentTo", source="DOID:4680"}
is_a: MONDO:0006256 {source="NCIT:C5164"} ! invasive breast carcinoma
property_value: exactMatch DOID:4680
property_value: exactMatch http://identifiers.org/snomedct/763479005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334708
property_value: exactMatch NCIT:C5164
property_value: exactMatch Orphanet:213531

[Term]
id: MONDO:0006044
name: nephrosclerosis
def: "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." [MESH:D009400]
subset: gard_rare {source="GARD:0007179"}
synonym: "renal sclerosis" EXACT [CSP2005:4003-0020, DOID:11664]
xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"}
xref: EFO:1000041 {source="MONDO:equivalentTo"}
xref: GARD:0007179 {source="MONDO:equivalentTo"}
xref: ICD10:I12 {source="DOID:11664"}
xref: ICD10:N26.9 {source="DOID:11664"}
xref: ICD9:587 {source="EFO:1000041", source="MONDO:equivalentTo", source="i2s", source="DOID:11664"}
xref: MESH:D009400 {source="EFO:1000041", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11664"}
xref: SCTID:32916005 {source="EFO:1000041", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11664"}
xref: UMLS:C0027719 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"}
is_a: MONDO:0002286 {source="linkedlifedata"} ! renal artery disease
is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11664"} ! renal hypertension
property_value: closeMatch http://identifiers.org/snomedct/194773000
property_value: closeMatch http://identifiers.org/snomedct/197658002
property_value: closeMatch http://identifiers.org/snomedct/197662008
property_value: exactMatch DOID:11664
property_value: exactMatch http://identifiers.org/mesh/D009400
property_value: exactMatch http://identifiers.org/snomedct/32916005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027719
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis xsd:anyURI {source="GARD:0007179"}

[Term]
id: MONDO:0006045
name: ovarian clear cell adenocarcinoma
def: "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." [NCIT:C40078]
subset: ordo_disease {source="Orphanet:398971"}
synonym: "clear cell adenocarcinoma of ovary" EXACT [MONDO:0018367]
synonym: "clear cell adenocarcinoma of the ovary" RELATED [Orphanet:398971]
synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971]
synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"}
xref: EFO:1000042 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="Orphanet:398971", source="ORDO:398971/ntbt"}
xref: NCIT:C40078 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo"}
xref: Orphanet:398971 {source="MONDO:equivalentTo"}
xref: SCTID:763131005 {source="MONDO:equivalentTo"}
xref: UMLS:C1518693 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo", source="NCIT:C40078"}
xref: UMLS:CN205034 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000548 {source="NCIT:C40078"} ! ovarian clear cell cancer
is_a: MONDO:0002752 {source="DOID:5304", source="EFO:1000042", source="MONDO:Redundant", source="MONDOLEX:0006045", source="NCIT:C40078"} ! ovarian adenocarcinoma
is_a: MONDO:0005004 {source="EFO:1000042", source="MONDO:Redundant", source="MONDOLEX:0006045", source="NCIT:C40078"} ! clear cell adenocarcinoma
property_value: exactMatch DOID:5304
property_value: exactMatch http://identifiers.org/snomedct/763131005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205034
property_value: exactMatch NCIT:C40078
property_value: exactMatch Orphanet:398971

[Term]
id: MONDO:0006046
name: ovarian serous cystadenocarcinoma
def: "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." [NCIT:C7978]
synonym: "ovarian serous cystadenocarcinoma" EXACT [NCIT:C7978]
synonym: "serous cystadenoma" EXACT EXCLUDE [DOID:5746]
xref: DOID:5746 {source="EFO:1000043", source="MONDO:equivalentTo"}
xref: EFO:1000043 {source="MONDO:equivalentTo"}
xref: NCIT:C7978 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo"}
xref: UMLS:C0279663 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo", source="NCIT:C7978"}
is_a: MONDO:0002702 {source="DOID:5746", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian cystadenocarcinoma
is_a: MONDO:0005211 {source="DOID:5746", source="EFO:1000043", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian serous adenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="MONDOLEX:0006046", source="NCIT:C7978"} ! serous cystadenocarcinoma
property_value: exactMatch DOID:5746
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279663
property_value: exactMatch NCIT:C7978

[Term]
id: MONDO:0006047
name: pancreatic adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the pancreas" [MONDO:DesignPattern]
synonym: "adenocarcinoma - pancreas" EXACT [NCIT:C8294]
synonym: "adenocarcinoma of pancreas" EXACT [NCIT:C8294]
synonym: "adenocarcinoma of the pancreas" EXACT [DOID:4074, NCIT:C8294]
synonym: "PAAD" RELATED [ONCOTREE:PAAD]
synonym: "pancreas adenocarcinoma" EXACT [DOID:4074, MONDO:patterns/location, NCIT:C8294]
synonym: "pancreatic adenocarcinoma" EXACT [NCIT:C8294]
xref: DOID:4074 {source="EFO:1000044", source="MONDO:equivalentTo"}
xref: EFO:1000044 {source="MONDO:equivalentTo"}
xref: NCIT:C8294 {source="EFO:1000044", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4074"}
xref: ONCOTREE:PAAD {source="MONDO:equivalentTo"}
xref: SCTID:700423003 {source="EFO:1000044", source="MONDO:equivalentTo", source="DOID:4074", source="MONDO:kboom-pr-0.90/0.79/0.09"}
xref: UMLS:C0281361 {source="EFO:1000044", source="MONDO:equivalentTo", source="NCIT:C8294", source="DOID:4074"}
is_a: MONDO:0004970 {source="DOID:4074", source="MONDO:Redundant", source="MONDOLEX:0006047", source="NCIT:C8294", source="linkedlifedata"} ! adenocarcinoma
is_a: MONDO:0005192 {source="DOID:4074", source="EFO:1000044", source="NCIT:C8294"} ! exocrine pancreatic carcinoma
property_value: exactMatch DOID:4074
property_value: exactMatch http://identifiers.org/snomedct/700423003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281361
property_value: exactMatch NCIT:C8294

[Term]
id: MONDO:0006048
name: obsolete pancreatic neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0019954

[Term]
id: MONDO:0006049
name: papillary lung adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." [NCIT:C5650]
synonym: "lung papillary adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "lung papillary-adenocarcinoma" EXACT [NCIT:C5650]
synonym: "papillary adenocarcinoma of lung" EXACT [NCIT:C5650]
synonym: "papillary adenocarcinoma of the lung" EXACT [DOID:5588, NCIT:C5650]
synonym: "papillary lung adenocarcinoma" EXACT [NCIT:C5650]
xref: DOID:5588 {source="MONDO:equivalentTo", source="EFO:1000046"}
xref: EFO:1000046 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5650 {source="DOID:5588", source="MONDO:equivalentTo", source="EFO:1000046", source="exact-label-match"}
xref: SCTID:707411007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:C1335325 {source="DOID:5588", source="NCIT:C5650", source="MONDO:equivalentTo", source="EFO:1000046"}
is_a: MONDO:0002512 {source="DOID:5588", source="MONDO:Redundant", source="MONDOLEX:0006049", source="NCIT:C5650"} ! papillary adenocarcinoma
is_a: MONDO:0005061 {source="DOID:5588", source="EFO:1000046", source="MONDO:Redundant", source="MONDOLEX:0006049", source="NCIT:C5650", source="linkedlifedata/inferred"} ! lung adenocarcinoma
property_value: exactMatch DOID:5588
property_value: exactMatch http://identifiers.org/snomedct/707411007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335325
property_value: exactMatch NCIT:C5650

[Term]
id: MONDO:0006050
name: pleomorphic breast carcinoma
def: "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." [NCIT:P378]
comment: _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 {source="EFO:1000047"}
synonym: "anaplastic breast carcinoma" EXACT [NCIT:C5161]
xref: EFO:1000047 {source="MONDO:equivalentTo"}
xref: NCIT:C5161 {source="EFO:1000047", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1514169 {source="EFO:1000047", source="MONDO:equivalentTo", source="NCIT:C5161"}
xref: UMLS:C2211689 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004953 {source="EFO:1000047", source="NCIT:C5161"} ! invasive ductal breast carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2211689
property_value: exactMatch NCIT:C5161

[Term]
id: MONDO:0006051
name: postweaning multisystemic wasting syndrome
def: "Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." [EFO:1000048]
xref: EFO:1000048 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:1000048"} ! non-human animal disease

[Term]
id: MONDO:0006052
name: pulmonary tuberculosis
def: "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." [NCIT:P378]
synonym: "lung TB" EXACT [NCIT:C26899]
synonym: "lung tuberculosis" EXACT [NCIT:C26899]
synonym: "pulmonary TB" EXACT [NCIT:C26899]
xref: COHD:253954 {source="MONDO:equivalentTo"}
xref: DOID:2957 {source="MONDO:equivalentTo", source="EFO:1000049"}
xref: EFO:1000049 {source="MONDO:equivalentTo"}
xref: ICD10:A15 {source="DOID:2957"}
xref: ICD10:A15.0 {source="DOID:2957"}
xref: ICD9:011 {source="EFO:1000049", source="DOID:2957"}
xref: ICD9:011.16 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.84 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.85 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.86 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.9 {source="DOID:2957"}
xref: ICD9:011.90 {source="MONDO:equivalentTo", source="i2s", source="DOID:2957"}
xref: ICD9:011.92 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:011.96 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014397 {source="MONDO:equivalentTo", source="EFO:1000049", source="MONDO:ontobio", source="DOID:2957"}
xref: NCIT:C26899 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000049", source="DOID:2957"}
xref: SCTID:154283005 {source="MONDO:equivalentTo", source="EFO:1000049", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2957"}
xref: UMLS:C0041327 {source="MONDO:equivalentTo", source="EFO:1000049", source="NCIT:C26899", source="DOID:2957"}
is_a: MONDO:0005087 {source="Orphanet:3389"} ! respiratory system disease
is_a: MONDO:0018076 {source="DOID:2957", source="EFO:1000049", source="MESH:D014397", source="NCIT:C26899", source="linkedlifedata", source="linkedlifedata/inferred"} ! tuberculosis
property_value: closeMatch http://identifiers.org/snomedct/186180006
property_value: closeMatch http://identifiers.org/snomedct/397190009
property_value: closeMatch http://identifiers.org/snomedct/700272008
property_value: closeMatch http://identifiers.org/snomedct/81483001
property_value: exactMatch DOID:2957
property_value: exactMatch http://identifiers.org/mesh/D014397
property_value: exactMatch http://identifiers.org/snomedct/154283005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041327
property_value: exactMatch NCIT:C26899

[Term]
id: MONDO:0006053
name: renal leiomyoma
def: "A leiomyoma that involves the kidney." [MONDO:patterns/location]
synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leiomyoma of kidney" EXACT [MONDO:design_pattern]
xref: EFO:1000050 {source="MONDO:equivalentTo"}
is_a: MONDO:0001572 ! leiomyoma
is_a: MONDO:0002513 ! kidney benign neoplasm

[Term]
id: MONDO:0006054
name: reproductive system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." [NCIT:C3674]
synonym: "neoplasm of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "neoplasm of the reproductive system" EXACT [NCIT:C3674]
synonym: "reproductive neoplasm" EXACT [NCIT:C3674]
synonym: "reproductive system neoplasm" EXACT [NCIT:C3674]
synonym: "reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "reproductive tumor" EXACT [NCIT:C3674]
synonym: "tumor of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "tumor of the reproductive system" EXACT [NCIT:C3674]
xref: EFO:1000051 {source="MONDO:equivalentTo"}
xref: NCIT:C3674 {source="EFO:1000051", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/12.43"}
xref: UMLS:C0178830 {source="EFO:1000051", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3674"}
is_a: MONDO:0005039 {source="MONDO:Redundant", source="NCIT:C3674"} ! reproductive system disease
is_a: MONDO:0025370 ! urogenital neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0178830
property_value: exactMatch NCIT:C3674

[Term]
id: MONDO:0006055
name: sex cord-stromal tumor
def: "A neoplasm involving a sex cord." [MONDO:patterns/neoplasm]
synonym: "malignant testicular sex cord-stromal tumor" EXACT [DOID:192]
synonym: "neoplasm of sex cord" EXACT [MONDO:patterns/neoplasm]
synonym: "sex cord neoplasm" EXACT []
synonym: "Sex cord stromal tumour" EXACT [DOID:192]
synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3794]
synonym: "sex cord-gonadal stromal tumor" EXACT [NCIT:C3794]
synonym: "Sex cord-stromal neoplasm" EXACT [DOID:192, NCIT:C3794]
synonym: "Sex cord-stromal tumor" EXACT [DOID:192, MTH:NOCODE, NCIT:C3794]
synonym: "sex cord-stromal tumor" EXACT [MONDO:0005958, NCIT:C3794]
synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [DOID:192]
synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:192]
synonym: "specialized gonadal neoplasm" EXACT [DOID:192]
synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [DOID:192]
synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [DOID:192]
synonym: "specialized gonadal tumor" EXACT [DOID:192]
synonym: "specialized gonadal tumor (qualifier value)" EXACT [DOID:192]
synonym: "tumor of sex cord" EXACT [MONDO:patterns/neoplasm]
xref: DOID:192 {source="MONDO:equivalentTo", source="EFO:0007483"}
xref: EFO:0007483 {source="MONDO:equivalentTo"}
xref: EFO:1000052 {source="MONDO:equivalentTo"}
xref: ICDO:8590/1 {source="NCIT:C3794"}
xref: NCIT:C3794 {source="EFO:1000052", source="DOID:192", source="MONDO:equivalentTo"}
xref: UMLS:C0206724 {source="EFO:1000052", source="DOID:192", source="MONDO:equivalentTo", source="NCIT:C3794"}
xref: UMLS:C1515289 {source="MEDGEN:kboom-pr98-c99", source="DOID:192", source="MONDO:equivalentTo"}
is_a: MONDO:0006054 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794/inferred"} ! reproductive system neoplasm
property_value: closeMatch http://identifiers.org/mesh/D018312
property_value: closeMatch http://identifiers.org/snomedct/115221000
property_value: closeMatch http://identifiers.org/snomedct/134323003
property_value: closeMatch http://identifiers.org/snomedct/189724009
property_value: closeMatch http://identifiers.org/snomedct/189741006
property_value: closeMatch http://identifiers.org/snomedct/253028001
property_value: closeMatch http://identifiers.org/snomedct/71440001
property_value: closeMatch NCIT:C39948
property_value: exactMatch DOID:192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515289
property_value: exactMatch NCIT:C3794

[Term]
id: MONDO:0006056
name: squamous cell breast carcinoma
def: "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." [NCIT:C5177]
synonym: "breast primary squamous cell carcinoma" EXACT [DOID:5514]
synonym: "breast squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "metaplastic squamous cell carcinoma" RELATED [ONCOTREE:MSCC]
synonym: "primary squamous cell breast carcinoma" EXACT [NCIT:C5177]
synonym: "primary squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "primary squamous cell carcinoma of the breast" EXACT [DOID:5514, NCIT:C5177, NCIT:C5179]
synonym: "scc of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "scc of the breast" EXACT [NCIT:C5177]
synonym: "squamous breast carcinoma" EXACT [NCIT:C5177]
synonym: "squamous carcinoma of breast" EXACT [NCIT:C5177]
synonym: "squamous carcinoma of the breast" EXACT [NCIT:C5177]
synonym: "squamous cell breast carcinoma" EXACT [NCIT:C5177]
synonym: "squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "squamous cell carcinoma of the breast" EXACT [NCIT:C5177]
xref: DOID:5514 {source="EFO:1000053", source="MONDO:equivalentTo"}
xref: EFO:1000053 {source="MONDO:equivalentTo"}
xref: NCIT:C5177 {source="EFO:1000053", source="MONDO:equivalentTo", source="DOID:5514", source="exact-label-match"}
xref: ONCOTREE:MSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336079 {source="EFO:1000053", source="NCIT:C5177", source="MONDO:equivalentTo", source="DOID:5514"}
is_a: MONDO:0005096 {source="DOID:5514", source="EFO:1000053", source="MONDO:Redundant", source="MONDOLEX:0006056", source="NCIT:C5177"} ! squamous cell carcinoma
is_a: MONDO:0006043 {source="DOID:5514", source="ONCOTREE:MSCC/inferred"} ! metaplastic breast carcinoma
property_value: exactMatch DOID:5514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336079
property_value: exactMatch NCIT:C5177

[Term]
id: MONDO:0006057
name: obsolete thymic lymphoma
is_obsolete: true
replaced_by: MONDO:0000951

[Term]
id: MONDO:0006058
name: Wilms tumor
def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267]
synonym: "Wilms tumor" EXACT [MONDO:0021044, NCIT:C3267]
synonym: "Wilms tumor (nephroblastoma)" EXACT [NCIT:C3267]
synonym: "Wilms' tumor" EXACT [NCIT:C3267]
xref: EFO:1000056 {source="MONDO:equivalentTo"}
xref: GARD:0007892 {source="MONDO:equivalentTo"}
xref: MESH:D009396 {source="EFO:1000056", source="MONDO:equivalentTo"}
xref: NCIT:C3267 {source="EFO:1000056", source="MONDO:equivalentTo"}
xref: OMIMPS:194070 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN244940 {source="MONDO:equivalentTo"}
is_a: MONDO:0005564 {source="EFO:1000056", source="NCIT:C3267"} ! embryonal neoplasm
is_a: MONDO:0005853 {source="NCIT:C3267"} ! malignant mixed neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL343552
property_value: exactMatch http://identifiers.org/mesh/D009396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244940
property_value: exactMatch NCIT:C3267

[Term]
id: MONDO:0006059
name: nasal cavity squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." [NCIT:C8192]
synonym: "nasal cavity squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8192]
synonym: "squamous cell carcinoma of nasal cavity" EXACT [DOID:5515, NCIT:C8192]
synonym: "squamous cell carcinoma of the nasal cavity" EXACT [DOID:5515, NCIT:C8192]
xref: DOID:5515 {source="MONDO:equivalentTo", source="EFO:1000057"}
xref: EFO:1000057 {source="MONDO:equivalentTo"}
xref: NCIT:C8192 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="exact-label-match"}
xref: UMLS:C0280333 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="NCIT:C8192"}
is_a: MONDO:0003212 {source="DOID:5515", source="MONDO:Redundant", source="MONDOLEX:0006059", source="NCIT:C8192"} ! nasal cavity carcinoma
is_a: MONDO:0010150 {source="EFO:1000057", source="MONDO:Redundant", source="NCIT:C8192/inferred"} ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:5515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280333
property_value: exactMatch NCIT:C8192

[Term]
id: MONDO:0006060
name: nasopharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the nasopharynx." [https://github.com/monarch-initiative/mondo/pull/1457]
xref: EFO:1000058 {source="MONDO:equivalentTo"}
is_a: MONDO:0010150 {source="EFO:1000058"} ! head and neck squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/449248000

[Term]
id: MONDO:0006061
name: cervical artery dissection
def: "a tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." [EFO:1000059]
xref: EFO:1000059 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0021059 ! head or neck disease/disorder

[Term]
id: MONDO:0006063
name: obsolete carbohydrate metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019214

[Term]
id: MONDO:0006064
name: obsolete lactose intolerance
is_obsolete: true
replaced_by: MONDO:0009116

[Term]
id: MONDO:0006065
name: lactose intolerance adult type
def: "Adult onset lactose intolerance" [EFO:1000063]
xref: EFO:1000063 {source="MONDO:equivalentTo"}
is_a: MONDO:0009116 {source="EFO:1000063"} ! lactose intolerance (disease)

[Term]
id: MONDO:0006066
name: acinar prostate adenocarcinoma, foamy gland variant
def: "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." [NCIT:P378]
xref: EFO:1000064 {source="MONDO:equivalentTo"}
xref: NCIT:C39882 {source="EFO:1000064", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1515863 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39882", source="MONDO:equivalentTo"}
is_a: MONDO:0002493 ! prostatic acinar adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1515863
property_value: exactMatch NCIT:C39882

[Term]
id: MONDO:0006067
name: acinar prostate mucinous adenocarcinoma
def: "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." [NCIT:C5537]
synonym: "acinar colloid prostate adenocarcinoma" EXACT [DOID:3703, NCIT:C5537]
synonym: "colloid adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "colloid adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "colloidal adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "colloidal adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "colloidal prostate adenocarcinoma" EXACT [NCIT:C5537]
synonym: "mucinous adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "mucinous adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "prostate colloid adenocarcinoma" EXACT [MONDO:0002743]
xref: DOID:3703 {source="MONDO:equivalentTo"}
xref: EFO:1000065 {source="MONDO:equivalentTo"}
xref: NCIT:C5537 {source="EFO:1000065", source="MONDO:equivalentTo", source="DOID:3703", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: UMLS:C1335513 {source="MONDO:equivalentTo", source="DOID:3703", source="NCIT:C5537"}
is_a: MONDO:0002493 ! prostatic acinar adenocarcinoma
is_a: MONDO:0004957 {source="EFO:1000065", source="MONDOLEX:0006067", source="NCIT:C5537"} ! mucinous adenocarcinoma
property_value: exactMatch DOID:3703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335513
property_value: exactMatch NCIT:C5537

[Term]
id: MONDO:0006068
name: ACTH-producing pituitary gland adenoma
def: "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." [NCIT:P378]
synonym: "ACTH producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "ACTH secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "ACTH secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-producing pituitary adenoma" EXACT [NCIT:C7462]
synonym: "ACTH-producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "ACTHoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing pituitary adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting pituitary adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "corticotroph adenoma" EXACT [NCIT:C7462]
synonym: "corticotropic adenoma" EXACT [NCIT:C7462]
synonym: "corticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "corticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "Corticotropinoma" EXACT [NCIT:C7462]
synonym: "pituitary ACTH secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary ACTH-secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary corticotropin secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary gland ACTH-secreting adenoma" EXACT [NCIT:C7462]
xref: EFO:1000066 {source="MONDO:equivalentTo"}
xref: NCIT:C7462 {source="MONDO:kboom-pr-0.94/0.86/0.18", source="EFO:1000066", source="MONDO:equivalentTo"}
is_a: MONDO:0006373 {source="MONDO:Redundant", source="MONDOLEX:0006068", source="NCIT:C7462"} ! pituitary gland adenoma
is_a: MONDO:0045058 {source="MONDO:Redundant", source="NCIT:C7462"} ! ACTH-producing pituitary gland neoplasm
property_value: exactMatch NCIT:C7462

[Term]
id: MONDO:0006069
name: ACTH-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." [NCIT:C5964]
synonym: "ACTH producing pituitary gland carcinoma" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of pituitary gland" EXACT [MONDO:0003838]
synonym: "malignant ACTH producing neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of pituitary" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of the pituitary" EXACT [DOID:6276, NCIT:C5964]
synonym: "malignant Corticotropinoma of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant pituitary Corticotropinoma" EXACT [NCIT:C5964]
synonym: "malignant pituitary gland Corticotropinoma" EXACT [NCIT:C5964]
xref: DOID:6276 {source="MONDO:equivalentTo"}
xref: EFO:1000067 {source="MONDO:equivalentTo"}
xref: NCIT:C5964 {source="EFO:1000067", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21", source="DOID:6276"}
xref: UMLS:C1334556 {source="MONDO:equivalentTo", source="NCIT:C5964", source="DOID:6276"}
is_a: MONDO:0017582 ! pituitary adenocarcinoma (disease)
is_a: MONDO:0045058 ! ACTH-producing pituitary gland neoplasm
relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6276"} ! functioning pituitary gland neoplasm
property_value: exactMatch DOID:6276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334556
property_value: exactMatch NCIT:C5964

[Term]
id: MONDO:0006070
name: obsolete acute leukemia
is_obsolete: true
replaced_by: MONDO:0010643

[Term]
id: MONDO:0006071
name: adenofibroma
def: "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." [NCIT:C8984]
synonym: "adenofibroma, benign" EXACT [NCIT:C8984]
synonym: "adenofibroma, no ICD-O subtype" EXACT [DOID:2683]
synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:2683]
synonym: "benign mixed Muellerian tumor" EXACT [NCIT:C8984]
synonym: "female reproductive system adenofibroma" EXACT [NCIT:C8984]
xref: DOID:2683 {source="MONDO:equivalentTo"}
xref: EFO:1000070 {source="MONDO:equivalentTo"}
xref: ICDO:9013/0 {source="NCIT:C8984"}
xref: MESH:D000232 {source="DOID:2683", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8984 {source="DOID:2683", source="MONDO:equivalentTo", source="EFO:1000070"}
xref: UMLS:C0001422 {source="DOID:2683", source="NCIT:C8984", source="MONDO:equivalentTo"}
is_a: MONDO:0000624 {source="NCIT:C8984"} ! benign female reproductive system neoplasm
is_a: MONDO:0005167 {source="EFO:1000070"} ! fibroma
property_value: closeMatch http://identifiers.org/snomedct/189823009
property_value: closeMatch http://identifiers.org/snomedct/2962009
property_value: exactMatch DOID:2683
property_value: exactMatch http://identifiers.org/mesh/D000232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001422
property_value: exactMatch NCIT:C8984

[Term]
id: MONDO:0006072
name: obsolete adenoid cystic breast carcinoma
def: "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130]
is_obsolete: true
replaced_by: MONDO:0003185

[Term]
id: MONDO:0006073
name: adenomatoid odontogenic tumor
def: "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." [NCIT:P378]
synonym: "adenomatoid odontogenic neoplasm" EXACT [NCIT:C4310]
xref: EFO:1000072 {source="MONDO:equivalentTo"}
xref: ICDO:9300/0 {source="NCIT:C4310"}
xref: MESH:C538229 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4310 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000072"}
is_a: MONDO:0005515 {source="EFO:1000072"} ! oral cavity cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334565
property_value: exactMatch http://identifiers.org/mesh/C538229
property_value: exactMatch NCIT:C4310

[Term]
id: MONDO:0006074
name: adenosquamous carcinoma
def: "A carcinoma composed of malignant glandular cells and malignant squamous cells." [NCIT:C3727]
synonym: "adenosquamous carcinoma" EXACT [NCIT:C3727]
synonym: "adenosquamous carcinoma (morphologic abnormality)" EXACT [DOID:4830]
synonym: "adenosquamous cell carcinoma" EXACT [DOID:4830]
synonym: "carcinoma, adenosquamous, malignant" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and epidermoid carcinoma" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and epidermoid cell carcinoma" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [DOID:4830, NCIT:C3727]
synonym: "mixed adenocarcinoma and squamous cell carcinoma" EXACT [NCIT:C3727]
xref: DOID:4830 {source="MONDO:equivalentTo"}
xref: EFO:1000073 {source="MONDO:equivalentTo"}
xref: ICDO:8560/3 {source="NCIT:C3727"}
xref: MESH:D018196 {source="DOID:4830", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3727 {source="EFO:1000073", source="DOID:4830", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:403902008 {source="DOID:4830", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
xref: UMLS:C0206623 {source="NCIT:C3727", source="DOID:4830", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="DOID:4830", source="MONDOLEX:0006074", source="linkedlifedata"} ! squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/59367005
property_value: exactMatch DOID:4830
property_value: exactMatch http://identifiers.org/mesh/D018196
property_value: exactMatch http://identifiers.org/snomedct/403902008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206623
property_value: exactMatch NCIT:C3727

[Term]
id: MONDO:0006075
name: adrenal gland myelolipoma
def: "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." [NCIT:C3736]
synonym: "adrenal gland myelolipoma" EXACT [NCIT:C3736]
synonym: "Myelolipoma" EXACT [NCIT:C3736]
synonym: "MYELOLIPOMA, benign" EXACT [NCIT:C3736]
xref: EFO:1000074 {source="MONDO:equivalentTo"}
xref: ICDO:8870/0 {source="NCIT:C3736"}
xref: MESH:D018209 {source="MONDO:equivalentTo"}
xref: NCIT:C3736 {source="EFO:1000074", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:719049003 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0206635 {source="MONDO:equivalentTo", source="NCIT:C3736"}
is_a: MONDO:0021511 {source="MONDO:Redundant", source="linkedlifedata"} ! benign neoplasm of adrenal gland
property_value: exactMatch http://identifiers.org/mesh/D018209
property_value: exactMatch http://identifiers.org/snomedct/719049003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206635
property_value: exactMatch NCIT:C3736

[Term]
id: MONDO:0006076
name: adrenal gland neuroblastoma
def: "A neuroblastoma arising from the adrenal gland." [NCIT:C4827]
synonym: "adrenal gland neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C4827]
synonym: "adrenal neuroblastoma" EXACT [MONDO:0003605, NCIT:C4827]
synonym: "neuroblastoma of adrenal" EXACT [NCIT:C4827]
synonym: "neuroblastoma of adrenal gland" EXACT [DOID:5718, NCIT:C4827]
synonym: "neuroblastoma of the adrenal" EXACT [NCIT:C4827]
synonym: "neuroblastoma of the adrenal gland" EXACT [NCIT:C4827]
xref: DOID:5718 {source="MONDO:equivalentTo"}
xref: EFO:1000075 {source="MONDO:equivalentTo"}
xref: NCIT:C4827 {source="EFO:1000075", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.20", source="DOID:5718"}
xref: SCTID:281562007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5718"}
xref: UMLS:C0559460 {source="NCIT:C4827", source="MONDO:equivalentTo", source="DOID:5718"}
is_a: MONDO:0000551 ! retroperitoneal neuroblastoma
is_a: MONDO:0003606 {source="NCIT:C4827"} ! adrenal medulla cancer
is_a: MONDO:0005872 ! nervous system cancer
property_value: exactMatch DOID:5718
property_value: exactMatch http://identifiers.org/snomedct/281562007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559460
property_value: exactMatch NCIT:C4827

[Term]
id: MONDO:0006077
name: adrenal medullary hyperplasia
def: "A hyperplasia that involves the adrenal medulla." [MONDO:patterns/location]
synonym: "adrenal medulla hyperplasia" EXACT [MONDO:patterns/location]
xref: EFO:1000076 {source="MONDO:equivalentTo"}
xref: NCIT:C35838 {source="EFO:1000076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
is_a: MONDO:0005043 {source="EFO:1000076", source="MONDO:Redundant", source="NCIT:C35838/inferred"} ! hyperplasia
is_a: MONDO:0005495 ! adrenal gland disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332177
property_value: exactMatch NCIT:C35838

[Term]
id: MONDO:0006078
name: AIDS-related primary central nervous system lymphoma
def: "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." [NCIT:P378]
synonym: "AIDS related lymphoma of primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS related lymphoma of the primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS related primary central nervous system lymphoma" EXACT [NCIT:C8284]
synonym: "AIDS related primary CNS lymphoma" EXACT [NCIT:C8284]
synonym: "AIDS-related lymphoma of primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS-related lymphoma of the primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS-related primary CNS lymphoma" EXACT [NCIT:C8284]
xref: EFO:1000077 {source="MONDO:equivalentTo"}
xref: NCIT:C8284 {source="EFO:1000077", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0281241 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8284"}
is_a: MONDO:0005062 {source="EFO:1000077", source="NCIT:C8284/inferred"} ! lymphoma
is_a: MONDO:0017341 ! virus associated tumor
relationship: disease_arises_from_feature MONDO:0012268 ! AIDS
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281241
property_value: exactMatch NCIT:C8284

[Term]
id: MONDO:0006079
name: ameloblastic carcinoma
def: "A rare, cytologically malignant ameloblastoma that may metastasize." [NCIT:C7492]
subset: gard_rare {source="GARD:0011855"}
subset: ordo_disease {source="Orphanet:314422"}
synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492]
synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492]
xref: EFO:1000078 {source="MONDO:equivalentTo"}
xref: GARD:0011855 {source="MONDO:equivalentTo"}
xref: ICD10:C41.1 {source="Orphanet:314422", source="ORDO:314422/ntbt"}
xref: NCIT:C7492 {source="EFO:1000078", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:314422 {source="MONDO:equivalentTo"}
xref: UMLS:C1314678 {source="Orphanet:314422", source="MONDO:equivalentTo", source="ORDO:314422/e", source="NCIT:C7492"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck carcinoma
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0006181 ! digestive system carcinoma
is_a: MONDO:0021192 {source="Orphanet:314422"} ! odontogenic neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1314678
property_value: exactMatch NCIT:C7492
property_value: exactMatch Orphanet:314422
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma xsd:anyURI {source="GARD:0011855"}

[Term]
id: MONDO:0006080
name: obsolete ampulla of vater carcinoma
is_obsolete: true
replaced_by: MONDO:0017590

[Term]
id: MONDO:0006081
name: anal melanoma
def: "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." [NCIT:C4639]
comment: Editor note: TODO relationship to mucosa
synonym: "anal malignant melanoma" EXACT [NCIT:C4639]
synonym: "anal melanoma" EXACT [DOID:14145, NCIT:C4639]
synonym: "anus melanoma" EXACT []
synonym: "anus melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant anus melanoma" EXACT [MONDO:0001891]
synonym: "malignant melanoma of anus" EXACT [NCIT:C4639]
synonym: "malignant melanoma of the anus" EXACT [NCIT:C4639]
synonym: "melanoma (disease) of anus" EXACT []
synonym: "melanoma of anus" EXACT [NCIT:C4639]
synonym: "melanoma of the anus" EXACT [NCIT:C4639]
xref: DOID:14145 {source="MONDO:equivalentTo"}
xref: EFO:1000080 {source="MONDO:equivalentTo"}
xref: NCIT:C4639 {source="DesignPattern", source="ONCOTREE:ARMM", source="MONDO:equivalentTo", source="DOID:14145", source="exact-label-match", source="EFO:1000080"}
xref: ONCOTREE:ARMM {source="MONDO:equivalentTo"}
xref: SCTID:276821000 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:14145", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0349538 {source="ONCOTREE:ARMM", source="NCIT:C4639", source="MONDO:equivalentTo", source="DOID:14145"}
is_a: MONDO:0002167 ! rectum malignant melanoma
is_a: MONDO:0003199 ! anal carcinoma
relationship: excluded_subClassOf MONDO:0021118 {source="ONCOTREE:ARMM"} ! intestinal neoplasm
property_value: exactMatch DOID:14145
property_value: exactMatch http://identifiers.org/snomedct/276821000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349538
property_value: exactMatch NCIT:C4639

[Term]
id: MONDO:0006082
name: anal squamous cell carcinoma
def: "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." [NCIT:C9161]
synonym: "anal squamous cell cancer" EXACT [NCIT:C9161]
synonym: "anal squamous cell carcinoma" EXACT [NCIT:C9161]
synonym: "ANSC" RELATED [ONCOTREE:ANSC]
synonym: "anus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "epidermoid anal carcinoma" EXACT [DOID:5525, NCIT:C9161]
synonym: "epidermoid carcinoma of anus" EXACT [NCIT:C9161]
synonym: "epidermoid carcinoma of the anus" EXACT [NCIT:C9161]
synonym: "squamous cell anal carcinoma" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma - anus" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma of anus" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma of the anus" EXACT [NCIT:C9161]
xref: DOID:5525 {source="MONDO:equivalentTo"}
xref: EFO:1000081 {source="MONDO:equivalentTo"}
xref: NCIT:C9161 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5525", source="EFO:1000081", source="exact-label-match"}
xref: ONCOTREE:ANSC {source="MONDO:equivalentTo"}
xref: UMLS:C1412036 {source="MONDO:equivalentTo", source="DOID:5525", source="NCIT:C9161"}
is_a: MONDO:0003199 {source="DOID:5525", source="MONDO:Redundant", source="MONDOLEX:0006082", source="NCIT:C9161"} ! anal carcinoma
is_a: MONDO:0018515 ! squamous cell carcinoma of rectum
property_value: exactMatch DOID:5525
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412036
property_value: exactMatch NCIT:C9161

[Term]
id: MONDO:0006083
name: obsolete anaplastic large cell lymphoma, ALK-negative
is_obsolete: true
replaced_by: MONDO:0017603

[Term]
id: MONDO:0006084
name: obsolete angioleiomyoma
is_obsolete: true
replaced_by: MONDO:0006646

[Term]
id: MONDO:0006085
name: angiolipoma
def: "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." [NCIT:P378]
synonym: "angiolipoma, benign" EXACT [NCIT:C3733]
xref: DOID:3616 {source="MONDO:equivalentTo"}
xref: EFO:1000085 {source="MONDO:equivalentTo"}
xref: ICDO:8861/0 {source="NCIT:C3733"}
xref: MESH:D018206 {source="MONDO:equivalentTo", source="DOID:3616", source="MONDO:ontobio"}
xref: NCIT:C3733 {source="EFO:1000085", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3616"}
xref: SCTID:404057003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3616"}
xref: UMLS:C0206632 {source="MONDO:equivalentTo", source="DOID:3616", source="NCIT:C3733"}
is_a: MONDO:0005106 {source="DOID:3616", source="EFO:1000085", source="MONDOLEX:0006085", source="NCIT:C3733"} ! lipoma
property_value: closeMatch http://identifiers.org/snomedct/189780003
property_value: closeMatch http://identifiers.org/snomedct/73219006
property_value: exactMatch DOID:3616
property_value: exactMatch http://identifiers.org/mesh/D018206
property_value: exactMatch http://identifiers.org/snomedct/404057003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206632
property_value: exactMatch NCIT:C3733

[Term]
id: MONDO:0006086
name: angiomyxoma
def: "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." [NCIT:P378]
xref: EFO:1000087 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8841/0 {source="NCIT:C3254"}
xref: ICDO:8841/1 {source="NCIT:C3254"}
xref: MESH:D009232 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3254 {source="EFO:1000087", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:404083008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0027149 {source="MONDO:equivalentTo"}
is_a: MONDO:0044335 {source="NCIT:C3254/inferred"} ! benign soft tissue neoplasm
property_value: exactMatch http://identifiers.org/mesh/D009232
property_value: exactMatch http://identifiers.org/snomedct/404083008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027149
property_value: exactMatch NCIT:C3254

[Term]
id: MONDO:0006087
name: appendix adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." [MONDO:DesignPattern]
synonym: "adenocarcinoma of appendix" EXACT [DOID:3608, NCIT:C7718]
synonym: "adenocarcinoma of the appendix" EXACT [NCIT:C7718]
synonym: "APAD" RELATED [ONCOTREE:APAD]
synonym: "appendiceal adenocarcinoma" EXACT [DOID:3608, NCIT:C7718]
synonym: "appendix adenocarcinoma" EXACT [NCIT:C7718]
synonym: "vermiform appendix adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3608 {source="MONDO:equivalentTo"}
xref: EFO:1000088 {source="MONDO:equivalentTo"}
xref: GARD:0010564 {source="MONDO:equivalentTo"}
xref: NCIT:C7718 {source="EFO:1000088", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3608"}
xref: ONCOTREE:APAD {source="MONDO:equivalentTo"}
xref: SCTID:413445002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3608"}
xref: UMLS:C0238003 {source="MONDO:equivalentTo", source="NCIT:C7718", source="DOID:3608"}
is_a: MONDO:0003196 {source="DOID:3608", source="MONDO:Redundant", source="MONDOLEX:0006087", source="NCIT:C7718", source="linkedlifedata"} ! appendix carcinoma
is_a: MONDO:0006028 ! cecum adenocarcinoma
property_value: exactMatch DOID:3608
property_value: exactMatch http://identifiers.org/snomedct/413445002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238003
property_value: exactMatch NCIT:C7718

[Term]
id: MONDO:0006088
name: appendix adenoma
def: "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." [NCIT:C43550]
synonym: "appendix adenoma" EXACT [NCIT:C43550]
synonym: "vermiform appendix adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000089 {source="MONDO:equivalentTo"}
xref: NCIT:C43550 {source="EFO:1000089", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1706829 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43550"}
is_a: MONDO:0000527 ! colon adenoma
is_a: MONDO:0018511 ! epithelial tumor of the appendix
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706829
property_value: exactMatch NCIT:C43550

[Term]
id: MONDO:0006089
name: appendix goblet cell carcinoid
def: "An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine." [NCIT:C3689]
synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689]
synonym: "appendix goblet cell carcinoid tumor" EXACT [NCIT:C3689]
synonym: "appendix mixed carcinoid-adenocarcinoma" EXACT [NCIT:C3689]
synonym: "goblet cell carcinoid of appendix" EXACT []
synonym: "goblet cell carcinoid of the appendix" EXACT []
synonym: "goblet cell carcinoid tumor" EXACT [NCIT:C3689]
synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689]
xref: EFO:1000090 {source="MONDO:equivalentTo"}
xref: ICDO:8243/3 {source="NCIT:C3689"}
xref: NCIT:C3689 {source="MONDO:equivalentTo", source="EFO:1000090", source="exact-label-match"}
xref: ONCOTREE:GCCAP {source="MONDO:equivalentTo"}
is_a: MONDO:0003196 ! appendix carcinoma
is_a: MONDO:0021659 {source="MONDOLEX:0006089", source="NCIT:C3689"} ! combined carcinoid and adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205695
property_value: exactMatch NCIT:C3689

[Term]
id: MONDO:0006090
name: appendix hyperplastic polyp
def: "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." [NCIT:P378]
synonym: "appendix metaplastic polyp" EXACT [NCIT:C96416]
synonym: "vermiform appendix hyperplastic polyp" EXACT [MONDO:patterns/location]
xref: EFO:1000091 {source="MONDO:equivalentTo"}
xref: NCIT:C96416 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000091"}
xref: UMLS:C3272761 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C96416", source="MONDO:equivalentTo"}
is_a: MONDO:0006249 {source="MONDO:Redundant", source="MONDOLEX:0006090", source="NCIT:C96416"} ! hyperplastic polyp
is_a: MONDO:0021400 ! polyp of colon
is_a: MONDO:0056798 ! disorder of appendix
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272761
property_value: exactMatch NCIT:C96416

[Term]
id: MONDO:0006091
name: appendix neuroendocrine tumor G1
def: "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:P378]
synonym: "appendiceal carcinoid tumor" EXACT [NCIT:C4138]
synonym: "appendix carcinoid endocrine tumour" RELATED [DOID:0050911]
synonym: "appendix carcinoid tumor" EXACT [MONDO:0000526]
synonym: "appendix NET G1" EXACT [NCIT:C4138]
synonym: "appendix NET G1 (carcinoid)" EXACT [NCIT:C4138]
synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [NCIT:C4138]
synonym: "carcinoid tumor of appendix" EXACT [NCIT:C4138]
synonym: "carcinoid tumor of the appendix" EXACT [NCIT:C4138]
synonym: "grade 1 neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix neuroendocrine neoplasm G1" EXACT []
synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: COHD:437238 {source="MONDO:equivalentTo"}
xref: DOID:0050911 {source="MONDO:equivalentTo"}
xref: EFO:1000092 {source="MONDO:equivalentTo"}
xref: ICD9:209.11 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:8240/1 {source="NCIT:C4138"}
xref: NCIT:C4138 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.20", source="EFO:1000092"}
xref: SCTID:253002004 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0334298 {source="MONDO:equivalentTo", source="NCIT:C4138"}
is_a: MONDO:0006126 ! cecum neuroendocrine tumor G1
is_a: MONDO:0015066 {source="MONDO:Redundant", source="NCIT:C4138"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0001235 {source="DOID:0050911"} ! appendix cancer
property_value: exactMatch DOID:0050911
property_value: exactMatch http://identifiers.org/snomedct/253002004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334298
property_value: exactMatch NCIT:C4138

[Term]
id: MONDO:0006092
name: appendix villous adenoma
def: "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." [NCIT:C5512]
synonym: "appendix villous adenoma" EXACT [NCIT:C5512]
synonym: "vermiform appendix villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of appendix" EXACT [NCIT:C5512]
synonym: "villous adenoma of the appendix" EXACT [NCIT:C5512]
xref: EFO:1000093 {source="MONDO:equivalentTo"}
xref: NCIT:C5512 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000093"}
xref: UMLS:C1332329 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5512"}
is_a: MONDO:0000525 ! cecum villous adenoma
is_a: MONDO:0006088 {source="MONDO:Redundant", source="NCIT:C5512", source="OWLReasoner:2017"} ! appendix adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332329
property_value: exactMatch NCIT:C5512

[Term]
id: MONDO:0006093
name: ascending colon neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6427]
synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427]
synonym: "ascending colon carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ascending colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "ascending colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427]
synonym: "ascending colon neuroendocrine neoplasm G1" EXACT []
synonym: "ascending colon neuroendocrine tumor G1" EXACT [NCIT:C6427]
synonym: "ascending colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "carcinoid tumor of ascending colon" EXACT [NCIT:C6427]
synonym: "carcinoid tumor of the ascending colon" EXACT [NCIT:C6427]
synonym: "grade 1 neuroendocrine neoplasm of ascending colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000094 {source="MONDO:equivalentTo"}
xref: NCIT:C6427 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000094"}
xref: UMLS:C1332340 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6427"}
is_a: MONDO:0006155 {source="MONDO:Redundant", source="MONDOLEX:0006093", source="NCIT:C6427"} ! colon neuroendocrine tumor G1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332340
property_value: exactMatch NCIT:C6427

[Term]
id: MONDO:0006094
name: Askin tumor
def: "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." [NCIT:C7542]
comment: Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling
synonym: "Askin tumor" EXACT [NCIT:C7542]
synonym: "Askin's tumor" EXACT [DOID:0050608, NCIT:C7542]
synonym: "peripheral neuroectodermal tumor of thoracopulmonary region" EXACT [NCIT:C7542]
synonym: "PNET of thoracopulmonary region" EXACT [NCIT:C7542]
synonym: "small cell tumor of thoracopulmonary region" EXACT [NCIT:C7542]
xref: DOID:0050608 {source="MONDO:equivalentTo"}
xref: EFO:1000095 {source="MONDO:equivalentTo"}
xref: ICDO:9365/3 {source="NCIT:C7542"}
xref: NCIT:C7542 {source="EFO:1000095", source="MONDO:equivalentTo"}
xref: UMLS:C0877849 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7542", source="MONDO:equivalentTo"}
is_a: MONDO:0003274 ! thoracic cancer
is_a: MONDO:0018271 {source="MONDOLEX:0006094", source="NCIT:C7542"} ! peripheral primitive neuroectodermal tumor
property_value: exactMatch DOID:0050608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877849
property_value: exactMatch NCIT:C7542

[Term]
id: MONDO:0006095
name: atypical carcinoid tumor
def: "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." [NCIT:C72074]
synonym: "atypical carcinoid tumor" EXACT [NCIT:C72074]
synonym: "malignant carcinoid tumor" EXACT [NCIT:C72074]
xref: COHD:40482859 {source="MONDO:equivalentTo"}
xref: EFO:1000097 {source="MONDO:equivalentTo"}
xref: NCIT:C72074 {source="EFO:1000097", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:445238008 {source="MONDO:equivalentTo"}
xref: UMLS:C0391970 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C72074"}
xref: UMLS:C1266032 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005369 {source="EFO:1000097", source="MONDOLEX:0006095", source="NCIT:C72074", source="linkedlifedata"} ! carcinoid tumor (disease)
property_value: exactMatch http://identifiers.org/snomedct/445238008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266032
property_value: exactMatch NCIT:C72074

[Term]
id: MONDO:0006096
name: atypical endometrial hyperplasia
def: "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." [NCIT:C4654]
synonym: "atypical hyperplasia of endometrium" EXACT [NCIT:C4654]
synonym: "atypical hyperplasia of the endometrium" EXACT [NCIT:C4654]
synonym: "endometrial hyperplasia with atypia" EXACT [NCIT:C4654]
xref: COHD:195316 {source="MONDO:equivalentTo"}
xref: EFO:1000098 {source="MONDO:equivalentTo"}
xref: ICD9:621.33 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4654 {source="EFO:1000098", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:277158007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0349579 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4654"}
is_a: MONDO:0000931 ! endometrial disease
is_a: MONDO:0005043 {source="EFO:1000098", source="NCIT:C4654/inferred"} ! hyperplasia
property_value: exactMatch http://identifiers.org/snomedct/277158007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349579
property_value: exactMatch NCIT:C4654

[Term]
id: MONDO:0006097
name: atypical lipomatous tumor
def: "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." [NCIT:C6505]
synonym: "ALT" EXACT [NCIT:C6505]
synonym: "Atypical lipoma" EXACT [NCIT:C6505]
synonym: "lipoma-like liposarcoma" EXACT [NCIT:C6505]
synonym: "liposarcoma, well differentiated (morphologic abnormality)" EXACT [DOID:5690]
synonym: "superficial well differentiated liposarcoma" EXACT [NCIT:C6505]
synonym: "well differentiated liposarcoma" EXACT [NCIT:C6505]
synonym: "well differentiated liposarcoma of superficial soft tissue" EXACT [NCIT:C6505]
xref: DOID:5690 {source="MONDO:equivalentTo"}
xref: EFO:1000099 {source="MONDO:equivalentTo"}
xref: ICDO:8850/1 {source="NCIT:C6505"}
xref: NCIT:C6505 {source="EFO:1000099", source="MONDO:equivalentTo"}
is_a: MONDO:0021354 {source="NCIT:C6505/inferred", source="NCIT:C7630"} ! tumor of adipose tissue
property_value: closeMatch http://identifiers.org/snomedct/28655007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266129
property_value: exactMatch DOID:5690
property_value: exactMatch NCIT:C6505

[Term]
id: MONDO:0006098
name: atypical lobular breast hyperplasia
def: "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." [NCIT:C4730]
synonym: "ALH" EXACT [NCIT:C4730]
synonym: "atypical breast lobular hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular breast hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia of breast" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia of the breast" EXACT [NCIT:C4730]
xref: EFO:1000100 {source="MONDO:equivalentTo"}
xref: ICD9:610.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4730 {source="EFO:1000100", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:450697004 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0002486 {source="NCIT:C4730"} ! lobular neoplasia
is_a: MONDO:0005043 {source="EFO:1000100", source="NCIT:C4730/inferred"} ! hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0442835
property_value: exactMatch http://identifiers.org/snomedct/450697004
property_value: exactMatch NCIT:C4730

[Term]
id: MONDO:0006099
name: obsolete B-cell prolymphocytic leukemia
is_obsolete: true
replaced_by: MONDO:0019461

[Term]
id: MONDO:0006100
name: obsolete Bartholin gland carcinoma (disease)
is_obsolete: true
replaced_by: MONDO:0002829

[Term]
id: MONDO:0006101
name: obsolete Bartholin gland squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0004053

[Term]
id: MONDO:0006102
name: basaloid carcinoma
def: "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C4121]
synonym: "basaloid carcinoma" EXACT [NCIT:C4121]
xref: EFO:1000105 {source="MONDO:equivalentTo"}
xref: ICDO:8123/3 {source="NCIT:C4121"}
xref: NCIT:C4121 {source="MONDO:equivalentTo", source="EFO:1000105"}
is_a: MONDO:0004993 {source="EFO:1000105", source="MONDOLEX:0006102", source="NCIT:C4121"} ! carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704216
property_value: exactMatch NCIT:C4121

[Term]
id: MONDO:0006103
name: benign adrenal gland pheochromocytoma
def: "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." [NCIT:C48305]
synonym: "adrenal gland pheochromocytoma, benign" EXACT [MONDO:patterns/benign]
synonym: "benign adrenal gland pheochromocytoma" EXACT [NCIT:C48305]
synonym: "pheochromocytoma, benign" EXACT [NCIT:C48305]
xref: EFO:1000106 {source="MONDO:equivalentTo"}
xref: NCIT:C48305 {source="MONDO:equivalentTo", source="EFO:1000106", source="exact-label-match"}
is_a: MONDO:0004974 {source="EFO:1000106", source="MONDO:Redundant", source="MONDOLEX:0006103", source="NCIT:C48305"} ! adrenal gland pheochromocytoma
is_a: MONDO:0021468 {source="MONDO:Redundant", source="NCIT:C48305"} ! benign neoplasm of adrenal medulla
is_a: MONDO:0036976 ! benign epithelial neoplasm
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474822
property_value: exactMatch NCIT:C48305

[Term]
id: MONDO:0006104
name: benign carotid body paraganglioma
def: "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." [NCIT:C79950]
synonym: "benign carotid body paraganglioma" EXACT [NCIT:C79950]
synonym: "benign chemodectoma" RELATED [NCIT:C79950]
synonym: "carotid body paraganglioma, benign" EXACT [MONDO:patterns/benign]
synonym: "chemodectoma, benign" RELATED [NCIT:C79950]
xref: EFO:1000108 {source="MONDO:equivalentTo"}
xref: NCIT:C79950 {source="MONDO:equivalentTo", source="NCIT:C79950", source="EFO:1000108"}
xref: UMLS:C2698359 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C79950"}
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C79950"} ! carotid body paraganglioma
is_a: MONDO:0024286 ! benign blood vessel neoplasm
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2698359
property_value: exactMatch NCIT:C79950

[Term]
id: MONDO:0006105
name: benign conjunctival neoplasm
def: "Abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCIT:C3622]
synonym: "benign conjunctiva neoplasm" EXACT [NCIT:C3622]
synonym: "benign conjunctiva tumor" EXACT [NCIT:C3622]
synonym: "benign conjunctival neoplasm" EXACT [NCIT:C3622]
synonym: "benign conjunctival tumor" EXACT [NCIT:C3622]
synonym: "benign neoplasm of conjunctiva" EXACT [NCIT:C3622]
synonym: "benign neoplasm of the conjunctiva" EXACT [NCIT:C3622]
synonym: "benign tumor of conjunctiva" EXACT [NCIT:C3622]
synonym: "benign tumor of the conjunctiva" EXACT [NCIT:C3622]
synonym: "conjunctiva benign neoplasm" EXACT [MONDO:patterns/location]
xref: COHD:373982 {source="MONDO:equivalentTo"}
xref: EFO:1000110 {source="MONDO:equivalentTo"}
xref: NCIT:C3622 {source="EFO:1000110", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92068002 {source="MONDO:equivalentTo"}
xref: UMLS:C0154025 {source="MONDO:equivalentTo", source="NCIT:C3622"}
is_a: MONDO:0020204 {source="EFO:1000110", source="MONDO:Redundant", source="NCIT:C3622"} ! conjunctival tumor
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3622", source="linkedlifedata"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/92068002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154025
property_value: exactMatch NCIT:C3622

[Term]
id: MONDO:0006106
name: benign smooth muscle neoplasm
def: "A benign mesenchymal neoplasm arising from smooth muscle tissue." [NCIT:C6510]
synonym: "benign neoplasm of smooth muscle" EXACT [NCIT:C6510]
synonym: "benign neoplasm of the smooth muscle" EXACT [NCIT:C6510]
synonym: "benign smooth muscle neoplasm" EXACT [NCIT:C6510]
synonym: "benign smooth muscle tumor" EXACT [NCIT:C6510]
synonym: "benign tumor of smooth muscle" EXACT [NCIT:C6510]
synonym: "benign tumor of the smooth muscle" EXACT [NCIT:C6510]
synonym: "smooth muscle tissue benign neoplasm" EXACT [MONDO:patterns/location]
xref: EFO:1000121 {source="MONDO:equivalentTo"}
xref: NCIT:C6510 {source="EFO:1000121", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332539 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6510"}
is_a: MONDO:0003061 {source="MONDO:Redundant", source="MONDOLEX:0006106", source="NCIT:C6510"} ! benign muscle neoplasm
is_a: MONDO:0006975 {source="EFO:1000121", source="MONDOLEX:0006106", source="NCIT:C6510"} ! smooth muscle tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332539
property_value: exactMatch NCIT:C6510

[Term]
id: MONDO:0006107
name: benign thyroid gland neoplasm
def: "A benign neoplasm arising from the thyroid gland." [NCIT:C3628]
synonym: "benign neoplasm of the thyroid" EXACT [NCIT:C3628]
synonym: "benign neoplasm of the thyroid gland" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid gland" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid glands" EXACT [NCIT:C3628]
synonym: "benign thyroid gland neoplasm" EXACT [NCIT:C3628]
synonym: "benign thyroid gland tumor" EXACT [NCIT:C3628]
synonym: "benign thyroid neoplasm" EXACT [NCIT:C3628]
synonym: "benign thyroid neoplasm NOS" RELATED EXCLUDE [NCIT:C3628]
synonym: "benign thyroid tumor" EXACT [NCIT:C3628]
synonym: "benign tumor of the thyroid" EXACT [NCIT:C3628]
synonym: "benign tumor of the thyroid gland" EXACT [NCIT:C3628]
synonym: "benign tumor of thyroid" EXACT [NCIT:C3628]
synonym: "benign tumor of thyroid gland" EXACT [NCIT:C3628]
synonym: "thyroid gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "thyroid neoplasm, benign" EXACT [NCIT:C3628]
xref: COHD:141249 {source="MONDO:equivalentTo"}
xref: EFO:1000122 {source="MONDO:equivalentTo"}
xref: ICD9:226 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3628 {source="EFO:1000122", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:92439006 {source="MONDO:kboom-pr-0.76/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0154038 {source="NCIT:C3628", source="MONDO:equivalentTo"}
is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata"} ! benign endocrine neoplasm
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C3628", source="linkedlifedata"} ! thyroid tumor
property_value: exactMatch http://identifiers.org/snomedct/92439006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154038
property_value: exactMatch NCIT:C3628

[Term]
id: MONDO:0006108
name: bile duct adenoma
def: "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." [NCIT:C2942]
synonym: "adenoma of bile duct" EXACT [NCIT:C2942]
synonym: "adenoma of the bile duct" EXACT [NCIT:C2942]
synonym: "bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C2942]
synonym: "bile duct adenoma (morphologic abnormality)" EXACT [DOID:5381]
synonym: "Cholangioadenoma" EXACT [DOID:5381, NCIT:C2942]
synonym: "Cholangioma" EXACT [NCIT:C2942]
synonym: "CHOLANGIOMA, benign" EXACT [NCIT:C2942]
synonym: "Hepatocholangiocellular adenoma" EXACT [NCIT:C2942]
synonym: "Hepatocholangioma" EXACT [NCIT:C2942]
xref: DOID:5381 {source="MONDO:equivalentTo"}
xref: EFO:1000123 {source="MONDO:equivalentTo"}
xref: ICDO:8160/0 {source="NCIT:C2942"}
xref: MESH:D002759 {source="MONDO:equivalentTo", source="DOID:5381", source="MONDO:ontobio"}
xref: NCIT:C2942 {source="MONDO:equivalentTo", source="EFO:1000123", source="DOID:5381", source="exact-label-match"}
xref: SCTID:424091006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5381"}
xref: UMLS:C0008309 {source="MONDO:equivalentTo", source="DOID:5381", source="NCIT:C2942"}
is_a: MONDO:0006180 {source="NCIT:C2942"} ! digestive system adenoma
is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C2942"} ! bile duct neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189591008
property_value: closeMatch http://identifiers.org/snomedct/39471001
property_value: exactMatch DOID:5381
property_value: exactMatch http://identifiers.org/mesh/D002759
property_value: exactMatch http://identifiers.org/snomedct/424091006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008309
property_value: exactMatch NCIT:C2942

[Term]
id: MONDO:0006109
name: malignant biphasic mesothelioma
def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." [NCIT:C4282]
synonym: "biphasic mesothelioma" EXACT [NCIT:C4282]
synonym: "malignant biphasic mesothelioma" EXACT [MONDO:0003015, NCIT:C4282]
synonym: "malignant biphasic mesothelioma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant mixed mesothelioma" EXACT [NCIT:C4282]
synonym: "mesothelioma, biphasic, malignant" EXACT [DOID:4486]
synonym: "mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [DOID:4486]
synonym: "mixed mesothelioma" EXACT [DOID:4486, NCIT:C4282]
xref: DOID:4486 {source="MONDO:equivalentTo"}
xref: EFO:1000124 {source="MONDO:equivalentTo"}
xref: ICDO:9053/3 {source="NCIT:C4282"}
xref: NCIT:C4282 {source="DOID:4486", source="EFO:1000124", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.45"}
xref: UMLS:C0334515 {source="DOID:4486", source="NCIT:C4282", source="MONDO:equivalentTo"}
is_a: MONDO:0006292 {source="DOID:4486", source="MONDOLEX:0006109", source="NCIT:C4282/inferred"} ! malignant mesothelioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/30383009
property_value: exactMatch DOID:4486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334515
property_value: exactMatch NCIT:C4282

[Term]
id: MONDO:0006110
name: obsolete bladder adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002751

[Term]
id: MONDO:0006111
name: bladder flat intraepithelial lesion
def: "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." [NCIT:C37266]
synonym: "bladder flat intraepithelial lesion" EXACT [NCIT:C37266]
synonym: "flat intraepithelial lesion of the bladder" EXACT [NCIT:C37266]
synonym: "flat intraepithelial lesion of the urinary bladder" EXACT [DOID:5429, NCIT:C37266]
synonym: "urinary bladder flat intraepithelial lesion" EXACT [NCIT:C37266]
xref: DOID:5429 {source="MONDO:equivalentTo"}
xref: EFO:1000126 {source="MONDO:equivalentTo"}
xref: NCIT:C37266 {source="MONDO:equivalentTo", source="DOID:5429", source="EFO:1000126", source="exact-label-match"}
xref: UMLS:C1332559 {source="NCIT:C37266", source="MONDO:equivalentTo", source="DOID:5429"}
is_a: MONDO:0004987 {source="NCIT:C37266"} ! urinary bladder neoplasm
property_value: exactMatch DOID:5429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332559
property_value: exactMatch NCIT:C37266

[Term]
id: MONDO:0006112
name: bladder inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C6177]
synonym: "bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177]
synonym: "bladder inflammatory myofibroblastic tumor" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic bladder tumor" RELATED [ONCOTREE:IMTB]
synonym: "inflammatory myofibroblastic neoplasm of bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of the bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of the urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of the bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of the urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of urinary bladder" EXACT [NCIT:C6177]
synonym: "urinary bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177]
synonym: "urinary bladder inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C6177]
xref: EFO:1000127 {source="MONDO:equivalentTo"}
xref: NCIT:C6177 {source="MONDO:equivalentTo", source="EFO:1000127", source="exact-label-match"}
xref: ONCOTREE:IMTB {source="MONDO:equivalentTo"}
xref: UMLS:C1336891 {source="NCIT:C6177", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C6177", source="OWLReasoner:2017"} ! urinary bladder neoplasm
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C6177"} ! inflammatory myofibroblastic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336891
property_value: exactMatch NCIT:C6177

[Term]
id: MONDO:0006113
name: obsolete bladder small cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0004114

[Term]
id: MONDO:0006114
name: obsolete bladder squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0002760

[Term]
id: MONDO:0006115
name: blast phase chronic myelogenous leukemia, BCR-ABL1 positive
def: "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." [NCIT:C9110]
synonym: "blast crises" RELATED [MESH:D001752]
synonym: "blast crisis" EXACT [NCIT:C9110]
synonym: "blast phase" RELATED [MESH:D001752]
synonym: "blast phase chronic granulocytic leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myelocytic leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myelogenous leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myeloid leukemia" EXACT [NCIT:C9110]
synonym: "blast phase CML" EXACT [NCIT:C9110]
synonym: "blast phases" RELATED [MESH:D001752]
synonym: "blastic phase chronic granulocytic leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myelocytic leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myelogenous leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myeloid leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase CML" EXACT [NCIT:C9110]
synonym: "crises, blast" RELATED [MESH:D001752]
synonym: "crisis, blast" RELATED [MESH:D001752]
synonym: "phase, blast" RELATED [MESH:D001752]
synonym: "phases, blast" RELATED [MESH:D001752]
xref: EFO:1000131 {source="MONDO:equivalentTo"}
xref: MESH:D001752 {source="MONDO:equivalentTo"}
xref: NCIT:C9110 {source="EFO:1000131", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:413656006 {source="MONDO:equivalentTo"}
xref: UMLS:C0005699 {source="MONDO:equivalentTo", source="NCIT:C9110"}
is_a: MONDO:0011996 {source="MONDOLEX:0006115", source="NCIT:C9110"} ! chronic myelogenous leukemia, BCR-ABL1 positive
property_value: exactMatch http://identifiers.org/mesh/D001752
property_value: exactMatch http://identifiers.org/snomedct/413656006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005699
property_value: exactMatch NCIT:C9110

[Term]
id: MONDO:0006116
name: breast carcinoma by gene expression profile
def: "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." [NCIT:C53553]
synonym: "breast carcinoma by gene expression profile" EXACT [NCIT:C53553]
xref: EFO:1000143 {source="MONDO:equivalentTo"}
xref: NCIT:C53553 {source="EFO:1000143", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3642344 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C53553"}
is_a: MONDO:0004989 {source="EFO:1000143", source="MONDOLEX:0006116", source="NCIT:C53553"} ! breast carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642344
property_value: exactMatch NCIT:C53553

[Term]
id: MONDO:0006117
name: breast diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." [NCIT:C40375]
synonym: "breast diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C40375]
synonym: "breast DLBCL" EXACT [NCIT:C40375]
synonym: "diffuse large B-cell lymphoma of breast" EXACT [MONDO:design_pattern]
xref: EFO:1000144 {source="MONDO:equivalentTo"}
xref: NCIT:C40375 {source="DesignPattern", source="EFO:1000144", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1511306 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40375"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0003661 {source="MONDO:Redundant", source="NCIT:C40375/inferred"} ! breast lymphoma
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C40375"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511306
property_value: exactMatch NCIT:C40375

[Term]
id: MONDO:0006118
name: breast fibrosis
def: "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." [NCIT:C3660]
synonym: "breast fibrosclerosis" EXACT [NCIT:C3660]
synonym: "breast fibrosis" EXACT [NCIT:C3660]
synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD9CM_2006:610.3, MONDO:0001013, NCIT:C3660]
synonym: "fibrosclerosis of the breast" EXACT [NCIT:C3660]
synonym: "fibrosis of breast" EXACT [NCIT:C3660]
synonym: "fibrosis of the breast" EXACT [DOID:10353, NCIT:C3660]
xref: COHD:75311 {source="MONDO:equivalentTo"}
xref: DOID:10353 {source="MONDO:equivalentTo"}
xref: EFO:1000145 {source="MONDO:equivalentTo"}
xref: ICD10:N60.3 {source="MONDO:equivalentTo", source="DOID:10353"}
xref: ICD9:610.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10353"}
xref: NCIT:C3660 {source="MONDO:equivalentTo", source="EFO:1000145", source="DOID:10353"}
xref: SCTID:29070004 {source="MONDO:equivalentTo", source="DOID:10353", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0156318 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3660", source="MONDO:equivalentTo", source="DOID:10353"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0003724 {source="DOID:10353", source="NCIT:C3660"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0021100 ! breast neoplasm
property_value: exactMatch DOID:10353
property_value: exactMatch http://identifiers.org/snomedct/29070004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156318
property_value: exactMatch NCIT:C3660

[Term]
id: MONDO:0006119
name: breast mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." [NCIT:C35688]
synonym: "breast MALT lymphoma" EXACT [NCIT:C35688]
synonym: "breast mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C35688]
xref: EFO:1000146 {source="MONDO:equivalentTo"}
xref: NCIT:C35688 {source="EFO:1000146", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1332633 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35688"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0007650 {source="MONDOLEX:0006119", source="NCIT:C35688"} ! MALT lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332633
property_value: exactMatch NCIT:C35688

[Term]
id: MONDO:0006120
name: C-cell hyperplasia
def: "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." [NCIT:C46100]
synonym: "C-cell hyperplasia" EXACT [NCIT:C46100]
xref: EFO:1000147 {source="MONDO:equivalentTo"}
xref: NCIT:C46100 {source="MONDO:equivalentTo", source="EFO:1000147", source="exact-label-match"}
xref: UMLS:C0342190 {source="NCIT:C46100", source="MONDO:equivalentTo"}
is_a: MONDO:0003240 {source="NCIT:C46100"} ! thyroid gland disease
is_a: MONDO:0005043 {source="EFO:1000147", source="NCIT:C46100"} ! hyperplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342190
property_value: exactMatch NCIT:C46100

[Term]
id: MONDO:0006121
name: calcifying fibrous tumor
def: "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." [NCIT:C6488]
synonym: "calcifying fibrous pseudotumor" EXACT [NCIT:C6488]
synonym: "calcifying fibrous tumor" EXACT [NCIT:C6488]
synonym: "CFT" EXACT [NCIT:C6488]
xref: EFO:1000148 {source="MONDO:equivalentTo"}
xref: NCIT:C6488 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000148"}
xref: UMLS:C1332833 {source="MONDO:equivalentTo", source="NCIT:C6488"}
is_a: MONDO:0005165 {source="NCIT:C6488"} ! benign neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332833
property_value: exactMatch NCIT:C6488

[Term]
id: MONDO:0006122
name: calcifying nested epithelial stromal tumor of the liver
def: "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." [NCIT:C96830]
xref: EFO:1000149 {source="MONDO:equivalentTo"}
xref: ICDO:8975/1 {source="NCIT:C96830"}
xref: NCIT:C96830 {source="MONDO:equivalentTo", source="EFO:1000149", source="exact-label-match"}
xref: UMLS:C3273067 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96830"}
is_a: MONDO:0002691 {source="MONDO:Redundant", source="NCIT:C96830/inferred"} ! liver cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273067
property_value: exactMatch NCIT:C96830

[Term]
id: MONDO:0006123
name: cardiac rhabdomyoma (disease)
def: "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." [NCIT:P378]
synonym: "cardiac rhabdomyoma" EXACT [MONDO:ambiguous]
synonym: "heart rhabdomyoma" EXACT [MONDO:patterns/location, NCIT:C6739]
synonym: "rhabdomyoma of heart" EXACT [NCIT:C6739]
synonym: "rhabdomyoma of the heart" EXACT [NCIT:C6739]
xref: EFO:1000150 {source="MONDO:equivalentTo"}
xref: HP:0009729 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C6739 {source="EFO:1000150", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1332852 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6739"}
is_a: MONDO:0021450 ! benign neoplasm of heart
is_a: MONDO:0036688 ! rhabdomyoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332852
property_value: exactMatch NCIT:C6739

[Term]
id: MONDO:0006126
name: cecum neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5501]
synonym: "caecal carcinoid tumor" EXACT [NCIT:C5501]
synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5501]
synonym: "caecum carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "caecum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "caecum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "caecum neuroendocrine neoplasm G1" EXACT []
synonym: "caecum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "carcinoid tumor of cecum" EXACT [NCIT:C5501]
synonym: "carcinoid tumor of the cecum" EXACT [NCIT:C5501]
synonym: "cecal carcinoid tumor" EXACT [NCIT:C5501]
synonym: "cecum carcinoid tumor" EXACT [NCIT:C5501]
synonym: "cecum NET G1" EXACT [NCIT:C5501]
synonym: "cecum neuroendocrine tumor G1" EXACT [NCIT:C5501]
synonym: "grade 1 neuroendocrine neoplasm of caecum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000154 {source="MONDO:equivalentTo"}
xref: NCIT:C5501 {source="DesignPattern", source="EFO:1000154", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0854488 {source="MONDO:equivalentTo", source="NCIT:C5501"}
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C5501"} ! cecal neoplasm
is_a: MONDO:0006155 {source="MONDO:Redundant", source="NCIT:C5501"} ! colon neuroendocrine tumor G1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854488
property_value: exactMatch NCIT:C5501

[Term]
id: MONDO:0006127
name: obsolete cecum villous adenoma
is_obsolete: true
replaced_by: MONDO:0000525

[Term]
id: MONDO:0006128
name: central nervous system anaplastic large cell lymphoma
def: "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." [NCIT:C5322]
synonym: "anaplastic central nervous system large cell lymphoma" EXACT [NCIT:C5322]
synonym: "anaplastic CNS large cell lymphoma" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of central nervous system" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of CNS" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of the central nervous system" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of the CNS" EXACT [NCIT:C5322]
synonym: "central nervous system anaplastic large cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C5322]
synonym: "primary central nervous system anaplastic large cell lymphoma" EXACT [NCIT:C5322]
synonym: "primary CNS anaplastic large cell lymphoma" EXACT [NCIT:C5322]
xref: EFO:1000156 {source="MONDO:equivalentTo"}
xref: NCIT:C5322 {source="MONDO:equivalentTo", source="EFO:1000156", source="exact-label-match"}
xref: UMLS:C1335476 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5322"}
is_a: MONDO:0020325 {source="EFO:1000156", source="MONDO:Redundant", source="NCIT:C5322"} ! anaplastic large cell lymphoma
is_a: MONDO:0020633 ! anaplastic cancer
is_a: MONDO:0044887 ! central nervous system non-hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335476
property_value: exactMatch NCIT:C5322

[Term]
id: MONDO:0006129
name: obsolete central nervous system lymphoma
is_obsolete: true
replaced_by: MONDO:0002571

[Term]
id: MONDO:0006130
name: central nervous system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." [NCIT:C9293]
synonym: "brain/spinal cord tumor" EXACT [NCIT:C9293]
synonym: "central nervous system neoplasm" EXACT [NCIT:C9293]
synonym: "central nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "central nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "CNS neoplasm" EXACT [NCIT:C9293]
synonym: "CNS tumor" EXACT [NCIT:C9293]
synonym: "neoplasm of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "neoplasm of CNS" EXACT [NCIT:C9293]
synonym: "neoplasm of the central nervous system" EXACT [NCIT:C9293]
synonym: "tumor of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "tumor of CNS" EXACT [NCIT:C9293]
synonym: "tumor of the central nervous system" EXACT [NCIT:C9293]
synonym: "tumor of the CNS" EXACT [NCIT:C9293]
xref: EFO:1000158 {source="MONDO:equivalentTo"}
xref: NCIT:C9293 {source="MONDO:equivalentTo", source="EFO:1000158"}
is_a: MONDO:0002602 {source="MONDO:Redundant", source="NCIT:C9293"} ! central nervous system disease
is_a: MONDO:0021248 {source="MONDO:Redundant", source="MONDOLEX:0006130", source="NCIT:C9293"} ! nervous system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085136
property_value: exactMatch NCIT:C9293

[Term]
id: MONDO:0006131
name: cerebellar liponeurocytoma
def: "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" [NCIT:C6905]
subset: gard_rare {source="GARD:0010642"}
subset: ordo_disease {source="Orphanet:251931"}
synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458]
synonym: "cerebellar liponeurocytoma (WHO grade II)" EXACT [NCIT:C6905]
synonym: "CLNC" RELATED [ONCOTREE:CLNC]
synonym: "lipomatous medulloblastoma" EXACT [DOID:6458, NCIT:C6905]
synonym: "lipomatous medulloblastoma (formerly)" RELATED DEPRECATED [GARD:0010642]
xref: DOID:6458 {source="MONDO:equivalentTo"}
xref: EFO:1000159 {source="MONDO:equivalentTo"}
xref: GARD:0010642 {source="MONDO:equivalentTo"}
xref: ICDO:0000/0 {source="NCIT:C6905"}
xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="exact-label-match"}
xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"}
xref: Orphanet:251931 {source="MONDO:equivalentTo"}
xref: SCTID:716592003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1370507 {source="NCIT:C6905", source="DOID:6458", source="MONDO:equivalentTo", source="Orphanet:251931", source="ORDO:251931/e"}
is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebellar neoplasm
is_a: MONDO:0016726 {source="Orphanet:251931"} ! neuronal tumor
property_value: closeMatch http://identifiers.org/snomedct/128858006
property_value: exactMatch DOID:6458
property_value: exactMatch http://identifiers.org/snomedct/716592003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370507
property_value: exactMatch NCIT:C6905
property_value: exactMatch Orphanet:251931
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma xsd:anyURI {source="GARD:0010642"}

[Term]
id: MONDO:0006132
name: cervical adenoid basal carcinoma
def: "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." [NCIT:P378]
synonym: "cervical adenoid basal cancer" EXACT [NCIT:C40213]
xref: DOID:6428 {source="MONDO:equivalentTo"}
xref: EFO:1000160 {source="MONDO:equivalentTo"}
xref: NCIT:C40213 {source="DOID:6428", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11", source="EFO:1000160"}
xref: ONCOTREE:CABC {source="MONDO:equivalentTo"}
xref: UMLS:C1516403 {source="DOID:6428", source="MONDO:equivalentTo", source="NCIT:C40213"}
is_a: MONDO:0005131 {source="DOID:6428", source="EFO:1000160", source="NCIT:C40213"} ! cervical carcinoma
property_value: exactMatch DOID:6428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516403
property_value: exactMatch NCIT:C40213

[Term]
id: MONDO:0006133
name: cervical adenoid cystic carcinoma
def: "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." [NCIT:C6346]
synonym: "adenoid cystic carcinoma of cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of cervix uteri" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of the cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [DOID:4867, NCIT:C6346]
synonym: "adenoid cystic carcinoma of the uterine cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of uterine cervix" EXACT [NCIT:C6346]
synonym: "cervical adenoid cystic cancer" EXACT [NCIT:C6346]
synonym: "cervical adenoid cystic carcinoma" EXACT [NCIT:C6346]
synonym: "cervix adenoid cystic carcinoma" EXACT [NCIT:C6346]
synonym: "cervix uteri adenoid cystic carcinoma" EXACT [NCIT:C6346]
synonym: "uterine cervix adenoid cystic carcinoma" EXACT [NCIT:C6346]
xref: DOID:4867 {source="MONDO:equivalentTo"}
xref: EFO:1000161 {source="MONDO:equivalentTo"}
xref: NCIT:C6346 {source="EFO:1000161", source="MONDO:equivalentTo", source="DOID:4867"}
xref: ONCOTREE:CACC {source="MONDO:equivalentTo"}
xref: UMLS:C1332911 {source="MONDO:equivalentTo", source="NCIT:C6346", source="DOID:4867"}
is_a: MONDO:0016286 ! adenoid cystic carcinoma of the cervix uteri
property_value: exactMatch DOID:4867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332911
property_value: exactMatch NCIT:C6346

[Term]
id: MONDO:0006134
name: cervical adenosquamous carcinoma
def: "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." [NCIT:C4519]
synonym: "adenosquamous carcinoma of cervix" EXACT [DOID:5636]
synonym: "adenosquamous cell carcinoma of cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of cervix uteri" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT [DOID:5636, NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of uterine cervix" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous cancer" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous carcinoma" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "cervix uteri adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "uterine cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519]
xref: DOID:5636 {source="MONDO:equivalentTo"}
xref: EFO:1000162 {source="MONDO:equivalentTo"}
xref: NCIT:C4519 {source="EFO:1000162", source="DOID:5636", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CEAS {source="MONDO:equivalentTo"}
xref: SCTID:254888007 {source="DOID:5636", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346202 {source="NCIT:C4519", source="DOID:5636", source="MONDO:equivalentTo"}
is_a: MONDO:0005153 {source="DOID:5636", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervical adenocarcinoma
is_a: MONDO:0006074 {source="MONDOLEX:0006134", source="NCIT:C4519", source="linkedlifedata"} ! adenosquamous carcinoma
is_a: MONDO:0006143 ! cervical squamous cell carcinoma
property_value: exactMatch DOID:5636
property_value: exactMatch http://identifiers.org/snomedct/254888007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346202
property_value: exactMatch NCIT:C4519

[Term]
id: MONDO:0006135
name: cervical clear cell adenocarcinoma
def: "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." [NCIT:C6344]
synonym: "cervical clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervical clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "cervix clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervix clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "cervix uteri clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervix uteri clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of the cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of the cervix uteri" EXACT [DOID:5303, NCIT:C6344]
synonym: "clear cell carcinoma of the uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of uterine cervix" EXACT [NCIT:C6344]
synonym: "uterine cervix clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6344]
synonym: "uterine cervix clear cell carcinoma" EXACT [NCIT:C6344]
xref: DOID:5303 {source="MONDO:equivalentTo"}
xref: EFO:1000163 {source="MONDO:equivalentTo"}
xref: NCIT:C6344 {source="EFO:1000163", source="DOID:5303", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CECC {source="MONDO:equivalentTo"}
xref: UMLS:C1332912 {source="NCIT:C6344", source="DOID:5303", source="MONDO:equivalentTo"}
is_a: MONDO:0005004 {source="EFO:1000163", source="MONDO:Redundant", source="MONDOLEX:0006135", source="NCIT:C6344"} ! clear cell adenocarcinoma
is_a: MONDO:0005153 {source="DOID:5303", source="EFO:1000163", source="MONDOLEX:0006135", source="NCIT:C6344", source="ONCOTREE:CECC"} ! cervical adenocarcinoma
property_value: exactMatch DOID:5303
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332912
property_value: exactMatch NCIT:C6344

[Term]
id: MONDO:0006136
name: obsolete cervical endometrioid adenocarcinoma
is_obsolete: true

[Term]
id: MONDO:0006137
name: cervical intraepithelial neoplasia grade 2/3
def: "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." [NCIT:P378]
synonym: "CIN 2/3" EXACT [NCIT:C94676]
xref: EFO:1000166 {source="MONDO:equivalentTo"}
xref: NCIT:C94676 {source="EFO:1000166", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C2986622 {source="NCIT:C94676", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005153 {source="EFO:1000166"} ! cervical adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986622
property_value: exactMatch NCIT:C94676

[Term]
id: MONDO:0006138
name: cervical large cell neuroendocrine carcinoma
def: "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." [NCIT:C40214]
synonym: "cervical large cell neuroendocrine carcinoma" EXACT [MONDO:0003961, NCIT:C40214]
synonym: "cervical neuroendocrine tumor" RELATED [ONCOTREE:CENE]
xref: DOID:6659 {source="MONDO:equivalentTo"}
xref: EFO:1000167 {source="MONDO:equivalentTo"}
xref: NCIT:C40214 {source="DOID:6659", source="MONDO:equivalentTo", source="EFO:1000167", source="MONDO:kboom-pr-1.00/0.86/13.24"}
xref: ONCOTREE:CENE {source="MONDO:equivalentTo"}
xref: UMLS:C1516417 {source="DOID:6659", source="MONDO:equivalentTo", source="NCIT:C40214"}
is_a: MONDO:0005057 {source="EFO:1000167", source="MONDOLEX:0006138", source="NCIT:C40214"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005131 {source="DOID:6659", source="EFO:1000167", source="MONDO:Entailed", source="NCIT:C40214/inferred"} ! cervical carcinoma
property_value: exactMatch DOID:6659
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516417
property_value: exactMatch NCIT:C40214

[Term]
id: MONDO:0006139
name: cervical metaplasia
def: "Metaplastic changes in the cervical glandular or squamous epithelium." [NCIT:P378]
xref: EFO:1000168 {source="MONDO:equivalentTo"}
xref: UMLS:C0281796 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005153 {source="EFO:1000168"} ! cervical adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281796
property_value: exactMatch NCIT:C4056

[Term]
id: MONDO:0006140
name: cervical mucinous adenocarcinoma, minimal deviation variant
def: "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." [NCIT:C40206]
synonym: "cervical adenoma malignum" EXACT [MONDO:0003949, NCIT:C40206]
synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT [NCIT:C40206]
synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [NCIT:C40206]
xref: DOID:6627 {source="MONDO:equivalentTo"}
xref: EFO:1000169 {source="MONDO:equivalentTo"}
xref: NCIT:C40206 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:6627", source="EFO:1000169"}
xref: UMLS:C1516423 {source="NCIT:C40206", source="MONDO:equivalentTo", source="DOID:6627"}
is_a: MONDO:0002742 {source="DOID:6627", source="MONDOLEX:0006140", source="NCIT:C40206"} ! cervical mucinous adenocarcinoma
property_value: exactMatch DOID:6627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516423
property_value: exactMatch NCIT:C40206

[Term]
id: MONDO:0006141
name: cervical villoglandular adenocarcinoma
def: "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." [NCIT:C40208]
synonym: "cervical adenocarcinoma, villoglandular variant" EXACT [NCIT:C40208]
synonym: "cervical villoglandular adenocarcinoma" EXACT [NCIT:C40208]
synonym: "cervical villoglandular carcinoma" EXACT [NCIT:C40208]
synonym: "villoglandular adenocarcinoma of the cervix" RELATED [ONCOTREE:VGCE]
synonym: "villoglandular variant cervical mucinous adenocarcinoma" EXACT [MONDO:0004536]
xref: DOID:8338 {source="MONDO:equivalentTo"}
xref: EFO:1000170 {source="MONDO:equivalentTo"}
xref: NCIT:C40208 {source="DOID:8338", source="MONDO:equivalentTo", source="EFO:1000170"}
xref: ONCOTREE:VGCE {source="MONDO:equivalentTo"}
xref: UMLS:C4289808 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002742 {source="DOID:8338", source="MONDOLEX:0006141"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0003204 {source="MONDO:Redundant", source="NCIT:C40208"} ! villous adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516425
property_value: exactMatch DOID:8338
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289808
property_value: exactMatch NCIT:C40208

[Term]
id: MONDO:0006142
name: cervical small cell carcinoma
def: "A small cell carcinoma arising from the cervix." [NCIT:C7982]
synonym: "Cervical small cell cancer" EXACT [NCIT:C7982]
synonym: "cervical small cell carcinoma" EXACT [NCIT:C7982]
synonym: "cervix small cell carcinoma" EXACT [MONDO:0003981, NCIT:C7982]
synonym: "cervix uteri small cell carcinoma" EXACT [NCIT:C7982]
synonym: "SCCE" RELATED [ONCOTREE:SCCE]
synonym: "small cell carcinoma of cervix" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of cervix uteri" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of the cervix" EXACT [DOID:6740, NCIT:C7982]
synonym: "small cell carcinoma of the cervix uteri" EXACT [DOID:6740, NCIT:C7982]
synonym: "small cell carcinoma of the uterine cervix" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of uterine cervix" EXACT [NCIT:C7982]
synonym: "uterine cervix small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7982]
xref: DOID:6740 {source="MONDO:equivalentTo"}
xref: EFO:1000171 {source="MONDO:equivalentTo"}
xref: NCIT:C7982 {source="DesignPattern", source="DOID:6740", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11", source="EFO:1000171"}
xref: ONCOTREE:SCCE {source="MONDO:equivalentTo"}
xref: UMLS:C0279674 {source="DOID:6740", source="NCIT:C7982", source="MONDO:equivalentTo"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="MONDOLEX:0006142", source="NCIT:C7982"} ! small cell carcinoma
is_a: MONDO:0005131 {source="DOID:6740", source="EFO:1000171", source="MONDO:Redundant", source="MONDOLEX:0006142", source="NCIT:C7982/inferred"} ! cervical carcinoma
property_value: exactMatch DOID:6740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279674
property_value: exactMatch NCIT:C7982

[Term]
id: MONDO:0006143
name: cervical squamous cell carcinoma
def: "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." [NCIT:P378]
subset: ordo_disease {source="Orphanet:213767"}
synonym: "cervical squamous cell cancer" EXACT [NCIT:C4028]
synonym: "cervical squamous cell carcinoma" EXACT [NCIT:C4028, Orphanet:213767]
synonym: "cervical squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C4028]
synonym: "cervical squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4028]
synonym: "cervix squamous cell carcinoma" EXACT [NCIT:C4028]
synonym: "cervix uteri squamous cell carcinoma" EXACT [NCIT:C4028]
synonym: "CESC" RELATED [ONCOTREE:CESC]
synonym: "squamous cell carcinoma of cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of cervix uteri" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of the cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of the cervix uteri" EXACT [DOID:3744, NCIT:C4028]
synonym: "squamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of uterine cervix" EXACT [NCIT:C4028]
synonym: "squamous cervical cancer" EXACT [NCIT:C4028]
synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028]
xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"}
xref: EFO:1000172 {source="MONDO:equivalentTo"}
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213767/btnt", source="Orphanet:213767"}
xref: ICD10:C53.1 {source="ORDO:213767/btnt", source="Orphanet:213767"}
xref: ICD10:C53.8 {source="ORDO:213767/btnt", source="Orphanet:213767"}
xref: NCIT:C4028 {source="DesignPattern", source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:CESC {source="MONDO:equivalentTo"}
xref: Orphanet:213767 {source="MONDO:equivalentTo"}
xref: SCTID:254886006 {source="DOID:3744", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0279671 {source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo", source="Orphanet:213767", source="NCIT:C4028"}
is_a: MONDO:0005096 {source="EFO:1000172", source="MONDO:Redundant", source="MONDOLEX:0006143", source="NCIT:C4028", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0005131 {source="DOID:3744", source="EFO:1000172", source="MONDO:Redundant", source="MONDOLEX:0006143", source="NCIT:C4028", source="OWLReasoner:2017"} ! cervical carcinoma
property_value: exactMatch DOID:3744
property_value: exactMatch http://identifiers.org/snomedct/254886006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279671
property_value: exactMatch NCIT:C4028
property_value: exactMatch Orphanet:213767

[Term]
id: MONDO:0006144
name: cervical Wilms tumor
alt_id: MONDO:0003323
def: "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." [NCIT:C40236]
synonym: "cervical Wilms tumor" EXACT [DOID:5190, NCIT:C40236]
synonym: "cervical Wilms' tumor" EXACT [NCIT:C40236]
xref: DOID:5190 {source="MONDO:equivalentTo"}
xref: EFO:1000173 {source="MONDO:equivalentTo"}
xref: NCIT:C40236 {source="EFO:1000173", source="MONDO:equivalentTo", source="DOID:5190", source="MONDO:kboom-pr-0.94/0.86/0.21"}
xref: UMLS:C1516437 {source="MONDO:equivalentTo", source="DOID:5190", source="NCIT:C40236"}
is_a: MONDO:0002974 {source="DOID:5190/inferred", source="MONDO:Redundant", source="NCIT:C40236"} ! cervical cancer
is_a: MONDO:0006058 {source="EFO:1000173", source="MONDO:Redundant", source="NCIT:C40236"} ! Wilms tumor
relationship: excluded_subClassOf MONDO:0002877 {source="DOID:5190"} ! cervical carcinosarcoma
property_value: exactMatch DOID:5190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516437
property_value: exactMatch NCIT:C40236

[Term]
id: MONDO:0006145
name: chondroid chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." [NCIT:C6902]
synonym: "chondroid chordoma" EXACT [MONDO:0002893]
synonym: "chondroid chordoma (morphologic abnormality)" EXACT [DOID:4152]
xref: DOID:4152 {source="MONDO:equivalentTo"}
xref: EFO:1000174 {source="MONDO:equivalentTo"}
xref: ICDO:9371/3 {source="NCIT:C6902"}
xref: NCIT:C6902 {source="EFO:1000174", source="MONDO:equivalentTo", source="DOID:4152"}
xref: UMLS:C1266173 {source="MONDO:equivalentTo", source="DOID:4152", source="NCIT:C6902"}
is_a: MONDO:0008978 {source="DOID:4152", source="NCIT:C6902"} ! chordoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128784007
property_value: exactMatch DOID:4152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266173
property_value: exactMatch NCIT:C6902

[Term]
id: MONDO:0006146
name: chondroid hamartoma
def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C42589&ns=NCI_Thesaurus" [EFO:1000175]
xref: EFO:1000175 {source="MONDO:equivalentTo"}
xref: NCIT:C42589 {source="EFO:1000175", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C1707390 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C42589"}
is_a: MONDO:0005070 {source="EFO:1000175"} ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707390
property_value: exactMatch NCIT:C42589

[Term]
id: MONDO:0006147
name: chronic eosinophilic leukemia, not otherwise specified
def: "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" [NCIT:C4563]
synonym: "CEL" EXACT [NCIT:C4563]
synonym: "CEL/hypereosinophilic syndrome" EXACT [NCIT:C4563]
synonym: "CELNOS" RELATED [ONCOTREE:CELNOS]
synonym: "chronic eosinophilic leukemia" EXACT [NCIT:C4563]
synonym: "chronic eosinophilic leukemia, NOS" RELATED EXCLUDE [NCIT:C4563]
synonym: "chronic eosinophilic leukemia, not otherwise specified" EXACT EXCLUDE [NCIT:C4563]
synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [NCIT:C4563]
synonym: "eosinophilic leukemia" EXACT [NCIT:C4563]
xref: EFO:1000178 {source="MONDO:equivalentTo"}
xref: ICDO:9964/3 {source="NCIT:C4563"}
xref: NCIT:C4563 {source="MONDO:equivalentTo", source="EFO:1000178"}
xref: ONCOTREE:CELNOS {source="MONDO:equivalentTo"}
is_a: MONDO:0001014 {source="NCIT:C4563"} ! chronic leukemia
is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C4563", source="ONCOTREE:CELNOS"} ! myeloproliferative neoplasm
property_value: exactMatch NCIT:C4563

[Term]
id: MONDO:0006148
name: obsolete chronic neutrophilic leukemia
is_obsolete: true
replaced_by: MONDO:0019451

[Term]
id: MONDO:0006149
name: clear cell papillary cystadenoma
def: "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." [NCIT:C65203]
synonym: "clear cell papillary cystadenoma" EXACT [NCIT:C65203]
xref: EFO:1000181 {source="MONDO:equivalentTo"}
xref: ICDO:8443/0 {source="NCIT:C65203"}
xref: NCIT:C65203 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000181"}
xref: UMLS:C1880102 {source="MONDO:equivalentTo", source="NCIT:C65203"}
is_a: MONDO:0021091 {source="MONDOLEX:0006149", source="NCIT:C65203"} ! papillary cystadenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1880102
property_value: exactMatch NCIT:C65203

[Term]
id: MONDO:0006150
name: colon Burkitt lymphoma
def: "A rare Burkitt lymphoma that arises from the colon." [NCIT:C27465]
synonym: "Burkitt lymphoma of colon" EXACT []
synonym: "Burkitts lymphoma of colon" EXACT [MONDO:design_pattern]
synonym: "colon Burkitt lymphoma" EXACT [MONDO:patterns/location]
synonym: "colon Burkitt's lymphoma" EXACT [NCIT:C27465]
synonym: "colon Burkitts lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary colon Burkitt's lymphoma" EXACT [NCIT:C27465]
xref: EFO:1000182 {source="MONDO:equivalentTo"}
xref: NCIT:C27465 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000182"}
xref: UMLS:C1333083 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27465", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0002035 {source="MONDO:Redundant", source="NCIT:C27465/inferred", source="OWLReasoner:2017"} ! colon lymphoma
is_a: MONDO:0007243 {source="EFO:1000182", source="MONDO:Redundant", source="NCIT:C27465/inferred"} ! Burkitt lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333083
property_value: exactMatch NCIT:C27465

[Term]
id: MONDO:0006151
name: colon dysplasia
def: "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." [NCIT:P378]
comment: Editor notes: not in NCIT neoplas subset
synonym: "colonic dysplasia" EXACT [NCIT:C4847]
synonym: "dysplasia of colon" EXACT [NCIT:C4847]
synonym: "dysplasia of the colon" EXACT [NCIT:C4847]
xref: EFO:1000183 {source="MONDO:equivalentTo"}
xref: NCIT:C4847 {source="EFO:1000183", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:308870004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C1302363 {source="MONDO:equivalentTo"}
is_a: MONDO:0003409 {source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease
property_value: exactMatch http://identifiers.org/snomedct/308870004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302363
property_value: exactMatch NCIT:C4847

[Term]
id: MONDO:0006152
name: colon inflammatory polyp
def: "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." [NCIT:P378]
synonym: "colonic inflammatory polyp" EXACT [NCIT:C5517]
synonym: "inflammatory polyp of colon" EXACT [NCIT:C5517]
synonym: "inflammatory polyp of the colon" EXACT [NCIT:C5517]
xref: EFO:1000184 {source="MONDO:equivalentTo"}
xref: NCIT:C5517 {source="EFO:1000184", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0267392 {source="MONDO:equivalentTo", source="NCIT:C5517"}
is_a: MONDO:0005401 {source="EFO:1000184", source="MONDO:Redundant", source="indirect"} ! colonic neoplasm
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5517"} ! polyp of colon
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267392
property_value: exactMatch NCIT:C5517

[Term]
id: MONDO:0006153
name: colon juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378]
synonym: "colon retention polyp" EXACT [NCIT:C5518]
synonym: "colonic juvenile polyp" EXACT [NCIT:C5518]
synonym: "colonic retention polyp" EXACT [NCIT:C5518]
synonym: "juvenile polyp of colon" EXACT [NCIT:C5518]
synonym: "juvenile polyp of the colon" EXACT [NCIT:C5518]
synonym: "retention polyp of colon" EXACT [NCIT:C5518]
synonym: "retention polyp of the colon" EXACT [NCIT:C5518]
xref: EFO:1000185 {source="MONDO:equivalentTo"}
xref: NCIT:C5518 {source="EFO:1000185", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: UMLS:C1333090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5518"}
is_a: MONDO:0005401 ! colonic neoplasm
is_a: MONDO:0006161 {source="NCIT:C5518"} ! colorectal juvenile polyp
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5518"} ! polyp of colon
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333090
property_value: exactMatch NCIT:C5518

[Term]
id: MONDO:0006154
name: colon mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." [NCIT:C5498]
synonym: "colon MALT lymphoma" EXACT [NCIT:C5498]
synonym: "colon MALToma" EXACT [NCIT:C5498]
synonym: "colonic MALT lymphoma" EXACT [NCIT:C5498]
synonym: "colonic MALToma" EXACT [NCIT:C5498]
synonym: "colonic mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5498]
synonym: "MALT lymphoma of colon" EXACT [NCIT:C5498]
synonym: "MALT lymphoma of the colon" EXACT [NCIT:C5498]
synonym: "MALToma of colon" EXACT [NCIT:C5498]
synonym: "MALToma of the colon" EXACT [NCIT:C5498]
xref: EFO:1000186 {source="MONDO:equivalentTo"}
xref: NCIT:C5498 {source="EFO:1000186", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333096 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5498"}
is_a: MONDO:0002035 {source="NCIT:C5498/inferred"} ! colon lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333096
property_value: exactMatch NCIT:C5498

[Term]
id: MONDO:0006155
name: colon neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5497]
synonym: "carcinoid tumor of colon" EXACT [NCIT:C5497]
synonym: "carcinoid tumor of the colon" EXACT [NCIT:C5497]
synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497]
synonym: "colon carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497]
synonym: "colon neuroendocrine neoplasm G1" EXACT []
synonym: "colon neuroendocrine tumor G1" EXACT [NCIT:C5497]
synonym: "colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colonic carcinoid tumor" EXACT [NCIT:C5497]
synonym: "grade 1 neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000188 {source="MONDO:equivalentTo"}
xref: NCIT:C5497 {source="DesignPattern", source="EFO:1000188", source="MONDO:equivalentTo", source="exact-label-match"}
is_a: MONDO:0006162 {source="MONDO:Redundant", source="NCIT:C5497"} ! colorectal neuroendocrine tumor G1
is_a: MONDO:0015067 ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333084
property_value: exactMatch NCIT:C5497

[Term]
id: MONDO:0006156
name: colon sessile serrated adenoma/polyp
def: "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." [NCIT:C96464]
synonym: "colon sessile serrated adenoma" EXACT [NCIT:C96464]
synonym: "colon sessile serrated adenoma/polyp" EXACT [NCIT:C96464]
synonym: "colon sessile serrated polyp" EXACT [NCIT:C96464]
synonym: "colon SSA" EXACT [NCIT:C96464]
synonym: "colon SSA/P" EXACT [NCIT:C96464]
synonym: "colon SSP" EXACT [NCIT:C96464]
xref: EFO:1000189 {source="MONDO:equivalentTo"}
xref: NCIT:C96464 {source="MONDO:equivalentTo", source="EFO:1000189", source="exact-label-match"}
xref: UMLS:C3272791 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96464"}
is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C96464"} ! colon adenoma
is_a: MONDO:0006164 {source="NCIT:C96464"} ! colorectal sessile serrated adenoma/polyp
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96464"} ! polyp of colon
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272791
property_value: exactMatch NCIT:C96464

[Term]
id: MONDO:0006157
name: colorectal adenosquamous carcinoma
def: "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43589]
synonym: "colorectal (colon or rectal) adenosquamous cancer" EXACT [NCIT:C43589]
synonym: "colorectal adenosquamous cancer" EXACT [NCIT:C43589]
synonym: "colorectal adenosquamous carcinoma" EXACT [NCIT:C43589]
synonym: "colorectum adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:1000190 {source="MONDO:equivalentTo"}
xref: NCIT:C43589 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000190"}
xref: UMLS:C1707437 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43589"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0006157", source="NCIT:C43589", source="OWLReasoner:2017"} ! adenosquamous carcinoma
is_a: MONDO:0006165 ! colorectal squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707437
property_value: exactMatch NCIT:C43589

[Term]
id: MONDO:0006158
name: colorectal diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the colon or rectum." [NCIT:C96503]
synonym: "colorectal diffuse large B-cell lymphoma" EXACT [NCIT:C96503]
synonym: "colorectal DLBCL" EXACT [NCIT:C96503]
synonym: "colorectum diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "diffuse large B-cell lymphoma of colorectum" EXACT [MONDO:design_pattern]
xref: EFO:1000191 {source="MONDO:equivalentTo"}
xref: NCIT:C96503 {source="MONDO:equivalentTo", source="EFO:1000191", source="exact-label-match"}
xref: UMLS:C3272827 {source="NCIT:C96503", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0018905 {source="EFO:1000191", source="MONDO:Redundant", source="NCIT:C96503", source="OWLReasoner:2017"} ! diffuse large B-cell lymphoma
is_a: MONDO:0024656 ! colorectal lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272827
property_value: exactMatch NCIT:C96503

[Term]
id: MONDO:0006159
name: colorectal gastrointestinal stromal tumor
def: "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." [NCIT:C27735]
synonym: "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735]
synonym: "colorectal gastrointestinal stromal tumor" EXACT [NCIT:C27735]
synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735]
synonym: "colorectal gist" EXACT [NCIT:C27735]
xref: EFO:1000192 {source="MONDO:equivalentTo"}
xref: NCIT:C27735 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000192"}
xref: UMLS:C1333109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27735"}
is_a: MONDO:0005335 {source="EFO:1000192", source="NCIT:C27735"} ! colorectal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333109
property_value: exactMatch NCIT:C27735

[Term]
id: MONDO:0006160
name: colorectal hamartoma
def: "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." [NCIT:C96474]
synonym: "colorectal hamartoma" EXACT [NCIT:C96474]
synonym: "colorectum hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "large intestinal hamartoma" EXACT [NCIT:C96474]
xref: EFO:1000193 {source="MONDO:equivalentTo"}
xref: NCIT:C96474 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000193"}
xref: UMLS:C3272801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96474"}
is_a: MONDO:0005335 ! colorectal neoplasm
is_a: MONDO:0006231 {source="NCIT:C96474"} ! gastrointestinal hamartoma
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C96474"} ! polyp of large intestine
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272801
property_value: exactMatch NCIT:C96474

[Term]
id: MONDO:0006161
name: colorectal juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378]
synonym: "colorectal retention polyp" EXACT [NCIT:C5681]
synonym: "juvenile polyp of large bowel" EXACT [NCIT:C5681]
synonym: "juvenile polyp of the large bowel" EXACT [NCIT:C5681]
synonym: "large bowel juvenile polyp" EXACT [NCIT:C5681]
synonym: "large intestinal juvenile polyp" EXACT [NCIT:C5681]
xref: EFO:1000194 {source="MONDO:equivalentTo"}
xref: NCIT:C5681 {source="EFO:1000194", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
is_a: MONDO:0006160 {source="MONDO:Redundant", source="NCIT:C5681"} ! colorectal hamartoma
is_a: MONDO:0006258 {source="NCIT:C5681"} ! juvenile polyp
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377708
property_value: exactMatch NCIT:C5681

[Term]
id: MONDO:0006162
name: colorectal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C96160]
synonym: "colorectal carcinoid tumor" EXACT [NCIT:C96160]
synonym: "colorectal NET G1" EXACT [NCIT:C96160]
synonym: "colorectal neuroendocrine tumor G1" EXACT [NCIT:C96160]
synonym: "colorectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colorectum carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colorectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colorectum neuroendocrine neoplasm G1" EXACT []
synonym: "colorectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "grade 1 neuroendocrine neoplasm of colorectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "large intestinal neuroendocrine tumor G1" EXACT [NCIT:C96160]
xref: EFO:1000195 {source="MONDO:equivalentTo"}
xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3272611 {source="NCIT:C96160", source="MONDO:equivalentTo"}
is_a: MONDO:0005335 {source="EFO:1000195", source="MONDO:Redundant", source="NCIT:C96160/inferred"} ! colorectal neoplasm
is_a: MONDO:0021533 ! intestinal neuroendocrine tumor G1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272611
property_value: exactMatch NCIT:C96160

[Term]
id: MONDO:0006163
name: colorectal serrated adenocarcinoma
def: "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." [NCIT:C96485]
synonym: "colorectal serrated adenocarcinoma" EXACT [NCIT:C96485]
xref: EFO:1000196 {source="MONDO:equivalentTo"}
xref: ICDO:8213/3 {source="NCIT:C96485"}
xref: NCIT:C96485 {source="EFO:1000196", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3272809 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96485"}
is_a: MONDO:0005008 {source="EFO:1000196", source="NCIT:C96485"} ! colorectal adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272809
property_value: exactMatch NCIT:C96485

[Term]
id: MONDO:0006164
name: colorectal sessile serrated adenoma/polyp
def: "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." [NCIT:C83176]
synonym: "colorectal mixed hyperplastic adenomatous polyp" EXACT [NCIT:C83176]
synonym: "colorectal mixed hyperplastic adenomatous polyp/serrated adenoma" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated adenoma" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated adenoma/polyp" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated polyp" EXACT [NCIT:C83176]
synonym: "colorectal SSA" EXACT [NCIT:C83176]
synonym: "colorectal SSA/P" EXACT [NCIT:C83176]
synonym: "colorectal SSP" EXACT [NCIT:C83176]
xref: EFO:1000197 {source="MONDO:equivalentTo"}
xref: NCIT:C83176 {source="EFO:1000197", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2826783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C83176"}
is_a: MONDO:0005484 {source="EFO:1000197", source="NCIT:C83176"} ! colorectal adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826783
property_value: exactMatch NCIT:C83176

[Term]
id: MONDO:0006165
name: colorectal squamous cell carcinoma
def: "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C43588]
synonym: "colorectal (colon or rectal) squamous cell cancer" EXACT [NCIT:C43588]
synonym: "colorectal squamous cell cancer" EXACT [NCIT:C43588]
synonym: "colorectal squamous cell carcinoma" EXACT [NCIT:C43588]
synonym: "colorectum squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:1000198 {source="MONDO:equivalentTo"}
xref: NCIT:C43588 {source="EFO:1000198", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1707442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43588"}
is_a: MONDO:0005096 {source="EFO:1000198", source="MONDO:Redundant", source="MONDOLEX:0006165", source="NCIT:C43588"} ! squamous cell carcinoma
is_a: MONDO:0024331 ! colorectal carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707442
property_value: exactMatch NCIT:C43588

[Term]
id: MONDO:0006166
name: columnar cell hyperplasia of the breast
def: "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." [NCIT:P378]
synonym: "CCH" EXACT [NCIT:C54183]
synonym: "columnar cell hyperplasia of breast" EXACT [NCIT:C54183]
xref: EFO:1000199 {source="MONDO:equivalentTo"}
xref: NCIT:C54183 {source="EFO:1000199", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1707446 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C54183", source="MONDO:equivalentTo"}
is_a: MONDO:0005043 {source="EFO:1000199", source="NCIT:C54183/inferred"} ! hyperplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707446
property_value: exactMatch NCIT:C54183

[Term]
id: MONDO:0006167
name: combined lung carcinoma
def: "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." [NCIT:C7591]
synonym: "combined carcinoma of lung" EXACT [NCIT:C7591]
synonym: "combined carcinoma of the lung" EXACT [NCIT:C7591]
synonym: "combined lung cancer" EXACT [NCIT:C7591]
synonym: "combined lung carcinoma" EXACT [NCIT:C7591]
xref: EFO:1000200 {source="MONDO:equivalentTo"}
xref: NCIT:C7591 {source="MONDO:equivalentTo", source="EFO:1000200", source="exact-label-match"}
xref: UMLS:C1333123 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7591"}
is_a: MONDO:0002120 {source="MONDO:Redundant", source="NCIT:C7591"} ! neuroendocrine carcinoma
is_a: MONDO:0005138 {source="EFO:1000200", source="MONDO:Redundant", source="MONDOLEX:0006167", source="NCIT:C7591"} ! lung carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C7591/inferred"} ! lung neuroendocrine neoplasm
is_a: MONDO:0005853 {source="NCIT:C7591"} ! malignant mixed neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333123
property_value: exactMatch NCIT:C7591

[Term]
id: MONDO:0006168
name: common hematopoietic neoplasm
def: "URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus" [EFO:1000201]
xref: EFO:1000201 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:1000201", source="MONDOLEX:0006168"} ! neoplasm (disease)
property_value: exactMatch NCIT:C7588

[Term]
id: MONDO:0006169
name: complex endometrial hyperplasia
def: "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." [NCIT:P378]
xref: COHD:198471 {source="MONDO:equivalentTo"}
xref: EFO:1000202 {source="MONDO:equivalentTo"}
xref: ICD9:621.32 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35423 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000202"}
xref: SCTID:198322002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0349578 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35423"}
is_a: MONDO:0005043 {source="EFO:1000202", source="NCIT:C35423/inferred"} ! hyperplasia
is_a: MONDO:0041161 {source="NCIT:C35423", source="linkedlifedata/inferred"} ! endometrial hyperplasia
property_value: exactMatch http://identifiers.org/snomedct/198322002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349578
property_value: exactMatch NCIT:C35423

[Term]
id: MONDO:0006170
name: conjunctival disorder
def: "Any disorder of the conjunctiva." [NCIT:C27605]
synonym: "conjunctiva disease" EXACT [MONDO:patterns/location]
synonym: "conjunctiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "conjunctival disease" EXACT [NCIT:C27605]
synonym: "conjunctival disorder" EXACT [NCIT:C27605]
synonym: "disease of conjunctiva" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of conjunctiva" EXACT []
synonym: "disorder of conjunctiva" EXACT [MONDO:patterns/location_top]
xref: EFO:1000203 {source="MONDO:equivalentTo"}
xref: MONDO:0002932 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C27605 {source="MONDO:equivalentTo", source="EFO:1000203", source="MONDO:kboom-pr-0.90/0.79/0.16"}
is_a: MONDO:0000462 ! eye adnexa disease
is_a: MONDO:0005328 {source="EFO:1000203", source="NCIT:C27605"} ! eye disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009759
property_value: exactMatch NCIT:C27605

[Term]
id: MONDO:0006171
name: obsolete conjunctival melanoma
is_obsolete: true
replaced_by: MONDO:0002096

[Term]
id: MONDO:0006172
name: conjunctival nevus
def: "A benign melanocytic neoplasm that arises from the conjunctiva." [NCIT:C4551]
synonym: "conjunctival nevus" EXACT [NCIT:C4551]
synonym: "Nevus of conjunctiva" EXACT [NCIT:C4551]
synonym: "Nevus of the conjunctiva" EXACT [NCIT:C4551]
xref: DOID:0050906 {source="MONDO:equivalentTo"}
xref: EFO:1000205 {source="MONDO:equivalentTo"}
xref: NCIT:C4551 {source="MONDO:equivalentTo", source="EFO:1000205", source="exact-label-match"}
xref: SCTID:255006004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346363 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4551", source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551", source="linkedlifedata"} ! melanocytic nevus
is_a: MONDO:0006105 ! benign conjunctival neoplasm
property_value: exactMatch DOID:0050906
property_value: exactMatch http://identifiers.org/snomedct/255006004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346363
property_value: exactMatch NCIT:C4551

[Term]
id: MONDO:0006173
name: conjunctival squamous cell carcinoma
def: "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." [NCIT:C4549]
synonym: "conjunctiva epidermoid carcinoma" EXACT [NCIT:C4549]
synonym: "conjunctiva squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4549]
synonym: "conjunctival epidermoid carcinoma" EXACT [DOID:1748, NCIT:C4549]
synonym: "conjunctival squamous cell cancer" EXACT [NCIT:C4549]
synonym: "conjunctival squamous cell carcinoma" EXACT [NCIT:C4549]
synonym: "epidermoid carcinoma of conjunctiva" EXACT [NCIT:C4549]
synonym: "epidermoid carcinoma of the conjunctiva" EXACT [NCIT:C4549]
synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [DOID:1748]
synonym: "ocular surface squamous neoplasia" EXACT [DOID:1748]
synonym: "squamous cell carcinoma of conjunctiva" EXACT [DOID:1748, NCIT:C4549]
synonym: "squamous cell carcinoma of the conjunctiva" EXACT [NCIT:C4549]
xref: DOID:1748 {source="MONDO:equivalentTo"}
xref: EFO:1000206 {source="MONDO:equivalentTo"}
xref: NCIT:C4549 {source="MONDO:equivalentTo", source="DOID:1748", source="exact-label-match", source="EFO:1000206"}
xref: SCTID:255003007 {source="MONDO:equivalentTo", source="DOID:1748", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346359 {source="MONDO:equivalentTo", source="DOID:1748", source="NCIT:C4549"}
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C4549", source="OWLReasoner:2017"} ! eye carcinoma
is_a: MONDO:0003454 {source="DOID:1748", source="MONDO:Redundant", source="NCIT:C4549", source="linkedlifedata"} ! conjunctival cancer
is_a: MONDO:0010150 {source="MONDO:Redundant", source="linkedlifedata"} ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:1748
property_value: exactMatch http://identifiers.org/snomedct/255003007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346359
property_value: exactMatch NCIT:C4549

[Term]
id: MONDO:0006174
name: cortisol-producing adrenal cortex adenoma
def: "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." [NCIT:C48449]
synonym: "cortisol producing adrenal cortex adenoma" EXACT [NCIT:C48449]
synonym: "cortisol producing adrenal cortical adenoma" EXACT [NCIT:C48449]
synonym: "cortisol-producing adrenal cortex adenoma" EXACT [NCIT:C48449]
xref: EFO:1000208 {source="MONDO:equivalentTo"}
xref: NCIT:C48449 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000208"}
xref: UMLS:C1707525 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C48449"}
is_a: MONDO:0003924 {source="MONDO:Redundant", source="MONDOLEX:0006174", source="NCIT:C48449"} ! adrenal cortex adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707525
property_value: exactMatch NCIT:C48449

[Term]
id: MONDO:0006175
name: obsolete craniopharyngioma
is_obsolete: true
replaced_by: MONDO:0018907

[Term]
id: MONDO:0006176
name: cribriform carcinoma
def: "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." [NCIT:C3680]
synonym: "cribriform carcinoma" EXACT [NCIT:C3680]
xref: EFO:1000210 {source="MONDO:equivalentTo"}
xref: ICDO:8201/3 {source="NCIT:C3680"}
xref: NCIT:C3680 {source="EFO:1000210", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0205643 {source="NCIT:C3680", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="EFO:1000210", source="MONDO:Redundant", source="NCIT:C3680"} ! carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205643
property_value: exactMatch NCIT:C3680

[Term]
id: MONDO:0006177
name: obsolete cutaneous undifferentiated pleomorphic sarcoma
is_obsolete: true
replaced_by: MONDO:0002141

[Term]
id: MONDO:0006178
name: dedifferentiated solitary fibrous tumor
def: "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." [NCIT:C79948]
xref: EFO:1000214 {source="MONDO:equivalentTo"}
xref: NCIT:C79948 {source="MONDO:equivalentTo", source="EFO:1000214", source="exact-label-match"}
xref: UMLS:C2699572 {source="NCIT:C79948", source="MONDO:equivalentTo"}
is_a: MONDO:0016238 {source="MONDO:cjm", source="MONDOLEX:0006178", source="NCIT:C79948/inferred"} ! solitary fibrous tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699572
property_value: exactMatch NCIT:C79948

[Term]
id: MONDO:0006179
name: desmoplastic ameloblastoma
def: "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." [NCIT:C39758]
synonym: "desmoplastic ameloblastoma" EXACT [NCIT:C39758]
xref: EFO:1000215 {source="MONDO:equivalentTo"}
xref: NCIT:C39758 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000215"}
xref: UMLS:C0457533 {source="MONDO:equivalentTo", source="NCIT:C39758"}
is_a: MONDO:0017795 {source="NCIT:C39758"} ! ameloblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457533
property_value: exactMatch NCIT:C39758

[Term]
id: MONDO:0006180
name: digestive system adenoma
def: "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." [NCIT:C36207]
synonym: "digestive system adenoma" EXACT [NCIT:C36207]
synonym: "digestive tract adenoma" EXACT [MONDO:patterns/location]
synonym: "gastrointestinal adenoma" EXACT [MONDO:0002890, NCIT:C36207]
synonym: "GI adenoma" EXACT [DOID:4147, NCIT:C36207]
xref: DOID:4147 {source="MONDO:equivalentTo"}
xref: EFO:1000217 {source="MONDO:equivalentTo"}
xref: NCIT:C36207 {source="DOID:4147", source="MONDO:equivalentTo", source="EFO:1000217"}
xref: UMLS:C0948101 {source="DOID:4147", source="MONDO:equivalentTo", source="NCIT:C36207"}
is_a: MONDO:0004972 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! adenoma
is_a: MONDO:0021223 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! digestive system neoplasm
relationship: excluded_subClassOf MONDO:0002516 {source="DOID:4147"} ! digestive system cancer
property_value: exactMatch DOID:4147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948101
property_value: exactMatch NCIT:C36207

[Term]
id: MONDO:0006181
name: digestive system carcinoma
def: "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." [NCIT:C96963]
synonym: "carcinoma of digestive system" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the gastrointestinal system" EXACT [NCIT:C96963]
synonym: "digestive system carcinoma" EXACT [NCIT:C96963]
synonym: "gastrointestinal carcinoma" EXACT [MONDO:ambiguous]
synonym: "gastrointestinal carcinoma (disease)" EXACT [MONDO:0000537]
synonym: "gastrointestinal system carcinoma" EXACT [NCIT:C96963]
xref: DOID:0050922 {source="MONDO:equivalentTo"}
xref: EFO:1000218 {source="MONDO:equivalentTo"}
xref: HP:0002672 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C96963 {source="MONDO:equivalentTo", source="EFO:1000218", source="exact-label-match"}
xref: UMLS:C0151544 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96963"}
is_a: MONDO:0002516 {source="DOID:0050922", source="MONDO:Redundant", source="NCIT:C96963", source="OWLReasoner:2017"} ! digestive system cancer
is_a: MONDO:0004993 {source="EFO:1000218", source="MONDO:Redundant", source="MONDOLEX:0006181", source="NCIT:C96963"} ! carcinoma
property_value: exactMatch DOID:0050922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151544
property_value: exactMatch NCIT:C96963

[Term]
id: MONDO:0006182
name: digestive system mixed adenoneuroendocrine carcinoma
def: "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." [NCIT:C95406]
synonym: "digestive system Mixed Adenoneuroendocrine cancer" EXACT [NCIT:C95406]
synonym: "digestive system mixed adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
synonym: "gastrointestinal MANEC" EXACT [NCIT:C95406]
synonym: "gastrointestinal mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
synonym: "MANEC" EXACT [NCIT:C95406]
synonym: "mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
xref: EFO:1000219 {source="MONDO:equivalentTo"}
xref: ICDO:8244/3 {source="NCIT:C95406"}
xref: NCIT:C95406 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000219"}
xref: UMLS:C2987129 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C95406", source="MONDO:equivalentTo"}
is_a: MONDO:0006181 {source="NCIT:C95406"} ! digestive system carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987129
property_value: exactMatch NCIT:C95406

[Term]
id: MONDO:0006183
name: disseminated peritoneal leiomyomatosis
def: "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." [NCIT:C3958]
subset: ordo_disease {source="Orphanet:71274"}
synonym: "diffuse peritoneal leiomyomatosis" EXACT [MONDO:0003613, NCIT:C3958, Orphanet:71274]
synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958]
synonym: "DPL" EXACT [Orphanet:71274]
synonym: "leiomyomatosis peritonealis disseminata" EXACT [NCIT:C3958]
synonym: "leiomyomatosis peritonealis disseminate" EXACT [Orphanet:71274]
synonym: "LPD" EXACT [Orphanet:71274]
xref: DOID:5728 {source="MONDO:equivalentTo"}
xref: EFO:1000220 {source="MONDO:equivalentTo"}
xref: GARD:0012843 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D20.1 {source="Orphanet:71274", source="ORDO:71274/ntbt"}
xref: NCIT:C3958 {source="EFO:1000220", source="MONDO:equivalentTo", source="DOID:5728", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:71274 {source="MONDO:equivalentTo"}
xref: SCTID:62557001 {source="MONDO:equivalentTo", source="DOID:5728", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0267785 {source="NCIT:C3958", source="MONDO:equivalentTo", source="DOID:5728"}
is_a: MONDO:0000650 {source="NCIT:C3958"} ! peritoneal benign neoplasm
is_a: MONDO:0003295 {source="DOID:5728", source="MONDOLEX:0006183", source="NCIT:C3958"} ! leiomyomatosis
is_a: MONDO:0015682 {source="Orphanet:71274"} ! primary peritoneal tumor
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch http://identifiers.org/snomedct/703634007
property_value: exactMatch DOID:5728
property_value: exactMatch http://identifiers.org/snomedct/62557001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267785
property_value: exactMatch NCIT:C3958
property_value: exactMatch Orphanet:71274

[Term]
id: MONDO:0006184
name: ductal breast carcinoma in situ and lobular carcinoma in situ
def: "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." [NCIT:C4195]
synonym: "DCIS and LCIS of breast" EXACT [NCIT:C4195]
synonym: "DCIS and LCIS of the breast" EXACT [NCIT:C4195]
synonym: "ductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195]
synonym: "ductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "ductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "ductal carcinoma in situ with lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "ductal carcinoma in situ with lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "intraductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195]
synonym: "intraductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "intraductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "intraductal carcinoma and lobular carcinoma in situ" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal and non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal and non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal and non-invasive lobular carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
xref: EFO:1000221 {source="MONDO:equivalentTo"}
xref: ICDO:8522/2 {source="NCIT:C4195"}
xref: NCIT:C4195 {source="EFO:1000221", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0334383 {source="NCIT:C4195", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004658 {source="NCIT:C4195"} ! breast carcinoma in situ
relationship: excluded_subClassOf MONDO:0005590 {source="EFO:1000221"} ! breast ductal adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334383
property_value: exactMatch NCIT:C4195

[Term]
id: MONDO:0006185
name: ductal or ductular proliferation
def: "A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." [NCIT:P378]
comment: Editor note: consider obsoleting
xref: EFO:1000222 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:1000222"} ! neoplasm (disease)
property_value: exactMatch NCIT:C111786

[Term]
id: MONDO:0006186
name: duodenal adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the duodenum." [MONDO:DesignPattern]
synonym: "adenocarcinoma of duodenum" EXACT [DOID:10816, NCIT:C7889]
synonym: "adenocarcinoma of the duodenum" EXACT [NCIT:C7889]
synonym: "duodenal adenocarcinoma" EXACT [DOID:10816, NCIT:C7889]
synonym: "duodenum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10816 {source="MONDO:equivalentTo"}
xref: EFO:1000223 {source="MONDO:equivalentTo"}
xref: NCIT:C7889 {source="EFO:1000223", source="MONDO:equivalentTo", source="DOID:10816", source="exact-label-match"}
xref: ONCOTREE:DA {source="MONDO:equivalentTo"}
xref: SCTID:408644002 {source="MONDO:kboom-pr-1.00/0.92/10.73", source="MONDO:equivalentTo", source="DOID:10816"}
xref: UMLS:C0278804 {source="MONDO:equivalentTo", source="DOID:10816", source="NCIT:C7889"}
is_a: MONDO:0003198 {source="DOID:10816", source="EFO:1000223", source="MONDO:Redundant", source="NCIT:C7889", source="linkedlifedata"} ! small intestine adenocarcinoma
is_a: MONDO:0021335 {source="MONDO:Redundant", source="NCIT:C7889"} ! carcinoma of duodenum
property_value: exactMatch DOID:10816
property_value: exactMatch http://identifiers.org/snomedct/408644002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278804
property_value: exactMatch NCIT:C7889

[Term]
id: MONDO:0006187
name: duodenal villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5338]
synonym: "duodenal villous adenoma" EXACT [NCIT:C5338]
synonym: "duodenum adenoma" RELATED [DOID:0050927]
synonym: "duodenum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of duodenum" EXACT [NCIT:C5338]
synonym: "villous adenoma of the duodenum" EXACT [NCIT:C5338]
synonym: "villous adenoma, duodenum" EXACT [NCIT:C5338]
xref: DOID:0050927 {source="MONDO:equivalentTo"}
xref: EFO:1000225 {source="MONDO:equivalentTo"}
xref: NCIT:C5338 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000225", source="exact-label-match"}
xref: UMLS:C1333322 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5338"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="MONDOLEX:0006187", source="NCIT:C5338/inferred"} ! villous adenoma
is_a: MONDO:0021303 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! adenoma of small intestine
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! tumor of duodenum
property_value: exactMatch DOID:0050927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333322
property_value: exactMatch NCIT:C5338

[Term]
id: MONDO:0006188
name: EBV-positive T-cell lymphoproliferative disorder of childhood
def: "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." [NCIT:C80373]
synonym: "EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [NCIT:C80373]
synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80373]
xref: EFO:1000228 {source="MONDO:equivalentTo"}
xref: NCIT:C80373 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000228"}
xref: UMLS:C2699838 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C80373"}
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0005169 {source="NCIT:C80373"} ! neoplasm of mature T-cells or NK-cells
relationship: excluded_subClassOf MONDO:0005062 {source="EFO:1000228"} ! lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699838
property_value: exactMatch NCIT:C80373

[Term]
id: MONDO:0006189
name: eccrine porocarcinoma
def: "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." [NCIT:C5560]
subset: gard_rare {source="GARD:0007431"}
synonym: "eccrine porocarcinoma" EXACT [NCIT:C5560]
synonym: "eccrine porocarcinoma of skin" RELATED [GARD:0007431]
synonym: "epidermotropic eccrine carcinoma" EXACT [NCIT:C5560]
synonym: "malignant eccrine poroma" EXACT [DOID:7566, NCIT:C5560]
synonym: "porocarcinoma" EXACT [DOID:7566]
synonym: "porocarcinoma/spiroadenocarcinoma" RELATED [ONCOTREE:POCA]
xref: DOID:7566 {source="MONDO:equivalentTo"}
xref: EFO:1000229 {source="MONDO:equivalentTo"}
xref: GARD:0007431 {source="MONDO:equivalentTo"}
xref: ICDO:8409/3 {source="NCIT:C5560"}
xref: MESH:D057090 {source="DOID:7566", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C5560 {source="DOID:7566", source="MONDO:equivalentTo", source="EFO:1000229", source="exact-label-match"}
xref: ONCOTREE:POCA {source="MONDO:equivalentTo"}
xref: SCTID:254708001 {source="DOID:7566", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1266065 {source="DOID:7566", source="NCIT:C5560", source="MONDO:equivalentTo"}
is_a: MONDO:0024240 {source="MONDO:Redundant", source="MONDOLEX:0006189", source="NCIT:C5560"} ! eccrine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128685001
property_value: exactMatch DOID:7566
property_value: exactMatch http://identifiers.org/mesh/D057090
property_value: exactMatch http://identifiers.org/snomedct/254708001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266065
property_value: exactMatch NCIT:C5560
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma xsd:anyURI {source="GARD:0007431"}

[Term]
id: MONDO:0006190
name: endolymphatic sac tumor (disease)
def: "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." [NCIT:P378]
synonym: "aggressive papillary tumor of the temporal bone" EXACT [NCIT:C67560]
synonym: "ELST" EXACT [NCIT:C67560]
synonym: "endolymphatic sac neoplasm" EXACT []
synonym: "endolymphatic sac neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endolymphatic sac tumor" EXACT [MONDO:ambiguous, MONDO:patterns/neoplasm, NCIT:C67560]
synonym: "neoplasm of endolymphatic sac" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endolymphatic sac" EXACT [MONDO:patterns/neoplasm]
xref: EFO:1000230 {source="MONDO:equivalentTo"}
xref: GARD:0009270 {source="MONDO:equivalentTo"}
xref: HP:0030393 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8260/1 {source="NCIT:C67560"}
xref: NCIT:C67560 {source="EFO:1000230", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:699817008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C2348239 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C67560", source="MONDO:equivalentTo"}
is_a: MONDO:0021096 {source="NCIT:C67560"} ! papillary epithelial neoplasm
is_a: MONDO:0024320 ! inner ear neoplasm
property_value: exactMatch http://identifiers.org/snomedct/699817008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2348239
property_value: exactMatch NCIT:C67560

[Term]
id: MONDO:0006191
name: endometrial clear cell adenocarcinoma
def: "A clear cell adenocarcinoma that involves the endometrium." [MONDO:patterns/location]
synonym: "clear cell carcinoma of endometrium" EXACT [DOID:5299, NCIT:C8028]
synonym: "clear cell carcinoma of the endometrium" EXACT [NCIT:C8028]
synonym: "endometrial clear cell adenocarcinoma" EXACT [MONDO:0003380, NCIT:C8028]
synonym: "endometrium clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5299 {source="MONDO:equivalentTo"}
xref: EFO:1000231 {source="MONDO:equivalentTo"}
xref: NCIT:C8028 {source="DOID:5299", source="MONDO:kboom-pr-0.94/0.87/0.06", source="EFO:1000231", source="MONDO:equivalentTo"}
xref: UMLS:C0279765 {source="DOID:5299", source="MONDO:equivalentTo", source="NCIT:C8028"}
is_a: MONDO:0005004 {source="EFO:1000231", source="MONDO:Redundant", source="MONDOLEX:0006191", source="NCIT:C8028", source="OWLReasoner:2017"} ! clear cell adenocarcinoma
is_a: MONDO:0005461 {source="DOID:5299", source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028/inferred"} ! endometrium adenocarcinoma
property_value: exactMatch DOID:5299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279765
property_value: exactMatch NCIT:C8028

[Term]
id: MONDO:0006192
name: endometrial endometrioid adenocarcinoma
def: "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." [NCIT:C6287]
synonym: "endometrial endometrioid adenocarcinoma" EXACT [NCIT:C6287]
synonym: "endometrioid adenocarcinoma of endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid adenocarcinoma of the endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid carcinoma of endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid carcinoma of the endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid endomet. adenocar." EXACT [NCIT:C6287]
synonym: "endometrioid endometrial adenocarcinoma" EXACT [NCIT:C6287]
synonym: "uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C6287]
synonym: "uterine corpus endometrioid carcinoma" EXACT [NCIT:C6287]
synonym: "uterine endometrioid carcinoma" RELATED [ONCOTREE:UEC]
xref: EFO:1000233 {source="MONDO:equivalentTo"}
xref: NCIT:C6287 {source="MONDO:equivalentTo", source="EFO:1000233", source="MONDO:kboom-pr-1.00/0.86/13.24"}
xref: ONCOTREE:UEC {source="MONDO:equivalentTo"}
xref: UMLS:C1336905 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6287", source="MONDO:equivalentTo"}
is_a: MONDO:0005026 {source="MONDOLEX:0006192", source="NCIT:C6287"} ! endometrioid adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336905
property_value: exactMatch NCIT:C6287

[Term]
id: MONDO:0006193
name: endometrial hyperplasia without atypia
def: "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." [NCIT:P378]
synonym: "typical endometrial hyperplasia" EXACT [NCIT:C40157]
xref: EFO:1000234 {source="MONDO:equivalentTo"}
xref: ICD9:621.34 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C40157 {source="EFO:1000234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:134031000119108 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
is_a: MONDO:0005043 {source="EFO:1000234", source="NCIT:C40157/inferred"} ! hyperplasia
is_a: MONDO:0041161 {source="NCIT:C40157", source="linkedlifedata"} ! endometrial hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516855
property_value: exactMatch http://identifiers.org/snomedct/134031000119108
property_value: exactMatch NCIT:C40157

[Term]
id: MONDO:0006194
name: obsolete endometrial mucinous adenocarcinoma
def: "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144]
is_obsolete: true
replaced_by: MONDO:0002747

[Term]
id: MONDO:0006195
name: endometrial polyp
def: "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." [NCIT:C6433]
synonym: "endometrial polyp" EXACT [NCIT:C6433]
synonym: "endometrial stromal polyp" EXACT [NCIT:C6433]
synonym: "endometrium polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of endometrium" EXACT [NCIT:C6433]
synonym: "polyp of the endometrium" EXACT [NCIT:C6433]
synonym: "polyp, endometrial stromal, benign" EXACT [NCIT:C6433]
xref: EFO:1000237 {source="MONDO:equivalentTo"}
xref: NCIT:C6433 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000237"}
is_a: MONDO:0000931 ! endometrial disease
is_a: MONDO:0004701 {source="MONDO:Redundant", source="MONDOLEX:0006195", source="NCIT:C6433"} ! uterine polyp
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704273
property_value: exactMatch NCIT:C6433

[Term]
id: MONDO:0006196
name: endometrial serous adenocarcinoma
def: "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." [NCIT:C27838]
synonym: "endometrial serous adenocarcinoma" EXACT [NCIT:C27838]
synonym: "serous endometrial adenocarcinoma" EXACT [NCIT:C27838]
synonym: "uterine corpus serous adenocarcinoma" EXACT [NCIT:C27838]
synonym: "uterine papillary serous carcinoma" EXACT [NCIT:C27838]
synonym: "uterine serous adenocarcinoma" EXACT [NCIT:C27838]
synonym: "uterine serous carcinoma" EXACT [NCIT:C27838]
synonym: "uterine serous papillary adenocarcinoma" EXACT [NCIT:C27838]
xref: EFO:1000238 {source="MONDO:equivalentTo"}
xref: NCIT:C27838 {source="MONDO:equivalentTo", source="EFO:1000238", source="MONDO:kboom-pr-0.94/0.86/0.21"}
is_a: MONDO:0005278 {source="EFO:1000238", source="MONDO:Redundant", source="MONDOLEX:0006196", source="NCIT:C27838"} ! serous adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854924
property_value: exactMatch NCIT:C27838

[Term]
id: MONDO:0006197
name: endometrial small cell carcinoma
def: "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." [NCIT:C40155]
synonym: "endometrial small cell carcinoma" EXACT [NCIT:C40155]
synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern]
xref: DOID:7139 {source="MONDO:equivalentTo"}
xref: EFO:1000239 {source="MONDO:equivalentTo"}
xref: NCIT:C40155 {source="DOID:7139", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000239"}
xref: UMLS:C1516858 {source="DOID:7139", source="MONDO:equivalentTo", source="NCIT:C40155"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="MONDOLEX:0006197", source="NCIT:C40155"} ! small cell carcinoma
is_a: MONDO:0002447 {source="DOID:7139", source="MONDO:Redundant", source="NCIT:C40155"} ! endometrial carcinoma (disease)
property_value: exactMatch DOID:7139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516858
property_value: exactMatch NCIT:C40155

[Term]
id: MONDO:0006198
name: endometrial squamous cell carcinoma
def: "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." [NCIT:C8719]
synonym: "endometrial squamous cell carcinoma" EXACT [NCIT:C8719]
synonym: "endometrium squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of endometrium" EXACT [DOID:5533, NCIT:C8719]
synonym: "squamous cell carcinoma of the endometrium" EXACT [NCIT:C8719]
xref: DOID:5533 {source="MONDO:equivalentTo"}
xref: EFO:1000240 {source="MONDO:equivalentTo"}
xref: NCIT:C8719 {source="DOID:5533", source="EFO:1000240", source="MONDO:equivalentTo"}
xref: UMLS:C1333396 {source="DOID:5533", source="MONDO:equivalentTo"}
is_a: MONDO:0002447 {source="DOID:5533", source="MONDO:Redundant", source="MONDOLEX:0006198", source="NCIT:C8719"} ! endometrial carcinoma (disease)
is_a: MONDO:0005096 {source="DOID:5533", source="EFO:1000240", source="MONDO:Redundant", source="MONDOLEX:0006198", source="NCIT:C8719"} ! squamous cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854925
property_value: exactMatch DOID:5533
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333396
property_value: exactMatch NCIT:C8719

[Term]
id: MONDO:0006199
name: endometrial undifferentiated carcinoma
def: "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." [NCIT:C40156]
synonym: "endometrial undifferentiated carcinoma" EXACT [NCIT:C40156]
synonym: "undifferentiated endometrial carcinoma" EXACT [NCIT:C40156]
xref: EFO:1000242 {source="MONDO:equivalentTo"}
xref: NCIT:C40156 {source="EFO:1000242", source="MONDO:equivalentTo"}
xref: UMLS:CN201056 {source="MONDO:equivalentTo"}
is_a: MONDO:0002447 {source="MONDO:Redundant", source="MONDOLEX:0006199", source="NCIT:C40156"} ! endometrial carcinoma (disease)
is_a: MONDO:0005617 {source="MONDO:Redundant", source="MONDOLEX:0006199", source="NCIT:C40156"} ! undifferentiated carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1516865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201056
property_value: exactMatch NCIT:C40156

[Term]
id: MONDO:0006200
name: epithelioid cell uveal melanoma
def: "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C35780]
synonym: "epithelioid cell melanoma of uvea" EXACT [MONDO:design_pattern]
synonym: "epithelioid cell uveal melanoma" EXACT [NCIT:C35780]
synonym: "uvea epithelioid cell melanoma" EXACT [MONDO:patterns/location]
synonym: "uveal epithelioid cell melanoma" EXACT [MONDO:0004084, NCIT:C35780]
xref: DOID:7040 {source="MONDO:equivalentTo"}
xref: EFO:1000244 {source="MONDO:equivalentTo"}
xref: NCIT:C35780 {source="MONDO:equivalentTo", source="EFO:1000244", source="DOID:7040"}
xref: UMLS:C1333422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:7040"}
is_a: MONDO:0002973 {source="MONDO:Redundant", source="MONDOLEX:0006200", source="NCIT:C35780"} ! epithelioid cell melanoma
is_a: MONDO:0006486 {source="DOID:7040", source="MONDO:Redundant", source="NCIT:C35780"} ! uveal melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279692
property_value: exactMatch DOID:7040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333422
property_value: exactMatch NCIT:C35780

[Term]
id: MONDO:0006201
name: ethmoid sinus adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that affects the ethmoid sinus." [NCIT:P378]
synonym: "adenoid cystic carcinoma of ethmoid sinus" RELATED [DOID:2764]
synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [DOID:2764, NCIT:C6238]
xref: DOID:2764 {source="MONDO:equivalentTo"}
xref: EFO:1000246 {source="MONDO:equivalentTo"}
xref: NCIT:C6238 {source="MONDO:equivalentTo", source="DOID:2764", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000246"}
xref: UMLS:C1333473 {source="MONDO:equivalentTo", source="DOID:2764", source="NCIT:C6238"}
is_a: MONDO:0001763 {source="DOID:2764", source="MONDO:Redundant", source="NCIT:C6238"} ! ethmoid sinus cancer
is_a: MONDO:0006352 ! paranasal sinus adenoid cystic carcinoma
property_value: exactMatch DOID:2764
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333473
property_value: exactMatch NCIT:C6238

[Term]
id: MONDO:0006202
name: extrahepatic bile duct adenosquamous carcinoma
def: "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C5778]
synonym: "adenosquamous bile duct carcinoma" NARROW [NCIT:C5778]
synonym: "adenosquamous carcinoma of bile duct" NARROW [NCIT:C5778]
synonym: "adenosquamous carcinoma of the bile duct" NARROW [NCIT:C5778]
synonym: "bile duct adenosquamous carcinoma" NARROW [NCIT:C5778]
synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5778]
xref: EFO:1000247 {source="MONDO:equivalentTo"}
xref: NCIT:C5778 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000247", source="MONDO:kboom-pr-1.00/0.86/12.43"}
is_a: MONDO:0003549 ! adenosquamous bile duct carcinoma
is_a: MONDO:0006203 ! extrahepatic bile duct squamous cell carcinoma
property_value: exactMatch NCIT:C5778

[Term]
id: MONDO:0006203
name: extrahepatic bile duct squamous cell carcinoma
def: "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." [NCIT:C5777]
synonym: "bile duct squamous cell carcinoma" EXACT [NCIT:C5777]
synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5777]
synonym: "squamous cell bile duct carcinoma" EXACT [NCIT:C5777]
synonym: "squamous cell carcinoma of bile duct" EXACT [NCIT:C5777]
synonym: "squamous cell carcinoma of the bile duct" EXACT [NCIT:C5777]
xref: EFO:1000248 {source="MONDO:equivalentTo"}
xref: NCIT:C5777 {source="MONDO:equivalentTo", source="EFO:1000248"}
is_a: MONDO:0003090 {source="MONDO:Redundant", source="NCIT:C5777"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0003500 ! squamous cell bile duct carcinoma
property_value: exactMatch NCIT:C5777

[Term]
id: MONDO:0006204
name: obsolete extramammary Paget disease
is_obsolete: true
replaced_by: MONDO:0008177

[Term]
id: MONDO:0006205
name: obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
is_obsolete: true
replaced_by: MONDO:0021039

[Term]
id: MONDO:0006206
name: fallopian tube carcinoma
def: "A carcinoma that arises from epithelial cells of the fallopian tube." [MONDO:DesignPattern]
synonym: "cancer of fallopian tube" EXACT [NCIT:C3867]
synonym: "cancer of the fallopian tube" EXACT [DOID:1963, NCIT:C3867]
synonym: "carcinoma of fallopian tube" EXACT [MONDO:patterns/carcinoma, NCIT:C3867]
synonym: "carcinoma of the fallopian tube" EXACT [NCIT:C3867]
synonym: "fallopian tube Ca" EXACT [DOID:1963]
synonym: "fallopian tube cancer" EXACT [NCIT:C3867]
synonym: "fallopian tube carcinoma" EXACT [MONDO:patterns/location, NCIT:C3867]
xref: DOID:1963 {source="MONDO:equivalentTo"}
xref: EFO:1000251 {source="MONDO:equivalentTo"}
xref: NCIT:C3867 {source="EFO:1000251", source="MONDO:equivalentTo", source="DOID:1963"}
xref: SCTID:276870001 {source="MONDO:equivalentTo", source="DOID:1963", source="MONDO:kboom-pr-0.97/0.92/0.80"}
xref: UMLS:C0238122 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:1963", source="NCIT:C3867"}
is_a: MONDO:0002158 {source="DOID:1963", source="MONDO:Redundant", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube cancer
is_a: MONDO:0004993 {source="DOID:1963", source="EFO:1000251", source="MONDO:Redundant", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoma
property_value: closeMatch http://identifiers.org/mesh/D005185
property_value: closeMatch http://identifiers.org/snomedct/154529008
property_value: closeMatch http://identifiers.org/snomedct/269602009
property_value: closeMatch http://identifiers.org/snomedct/93794008
property_value: exactMatch DOID:1963
property_value: exactMatch http://identifiers.org/snomedct/276870001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238122
property_value: exactMatch NCIT:C3867

[Term]
id: MONDO:0006207
name: fallopian tube carcinosarcoma
def: "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." [NCIT:C40124]
synonym: "fallopian tube carcinosarcoma" EXACT [MONDO:patterns/location]
synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970]
synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40124]
synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [DOID:1970]
xref: DOID:1970 {source="MONDO:equivalentTo"}
xref: EFO:1000252 {source="MONDO:equivalentTo"}
xref: NCIT:C40124 {source="EFO:1000252", source="DOID:1970", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1517117 {source="DOID:1970", source="MONDO:equivalentTo", source="NCIT:C40124"}
is_a: MONDO:0002928 {source="DOID:1970", source="MONDO:Redundant", source="MONDOLEX:0006207", source="NCIT:C40124/inferred"} ! carcinosarcoma
is_a: MONDO:0006206 {source="EFO:1000252", source="MONDOLEX:0006207"} ! fallopian tube carcinoma
property_value: exactMatch DOID:1970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517117
property_value: exactMatch NCIT:C40124

[Term]
id: MONDO:0006208
name: fallopian tube serous adenocarcinoma
def: "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." [NCIT:C40099]
synonym: "fallopian tube serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40099]
xref: DOID:5598 {source="MONDO:equivalentTo"}
xref: EFO:1000253 {source="MONDO:equivalentTo"}
xref: NCIT:C40099 {source="DOID:5598", source="EFO:1000253", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1517124 {source="DOID:5598", source="MONDO:equivalentTo", source="NCIT:C40099"}
is_a: MONDO:0002746 {source="DOID:5598", source="MONDO:Redundant", source="NCIT:C40099"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005278 {source="DOID:5598", source="EFO:1000253", source="MONDO:Redundant", source="MONDOLEX:0006208", source="NCIT:C40099"} ! serous adenocarcinoma
property_value: exactMatch DOID:5598
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517124
property_value: exactMatch NCIT:C40099

[Term]
id: MONDO:0006209
name: fibroblastic neoplasm
def: "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." [NCIT:C7075]
synonym: "fibroblastic neoplasm" EXACT [NCIT:C7075]
synonym: "fibroblastic tumor" EXACT [NCIT:C7075]
synonym: "fibrocytic neoplasm" EXACT [NCIT:C7075]
synonym: "fibrocytic tumor" EXACT [NCIT:C7075]
synonym: "fibrogenic neoplasm" EXACT [NCIT:C7075]
synonym: "fibrogenicTumor" EXACT [NCIT:C7075]
synonym: "fibrous neoplasm" EXACT [NCIT:C7075]
synonym: "fibrous tumor" EXACT [NCIT:C7075]
xref: EFO:1000255 {source="MONDO:equivalentTo"}
xref: NCIT:C7075 {source="MONDO:equivalentTo", source="EFO:1000255", source="MONDO:kboom-pr-0.90/0.78/0.17"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C7075"} ! mesenchymal cell neoplasm
is_a: MONDO:0021581 ! connective tissue neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206643
property_value: exactMatch NCIT:C7075

[Term]
id: MONDO:0006210
name: fibrolamellar hepatocellular carcinoma
def: "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." [NCIT:C4131]
subset: ordo_disease {source="Orphanet:401920"}
synonym: "eosinophilic glassy cell hepatoma" RELATED [GARD:0009396]
synonym: "eosinophilic hepatocellular carcinoma with lamellar fibrosis" RELATED [GARD:0009396]
synonym: "FHCC" EXACT [Orphanet:401920]
synonym: "fibrolamellar cancer" EXACT [NCIT:C4131]
synonym: "fibrolamellar carcinoma" EXACT [MONDO:0018427, NCIT:C4131]
synonym: "fibrolamellar carcinoma of liver cells" EXACT [NCIT:C4131]
synonym: "fibrolamellar carcinoma of the liver cells" EXACT [NCIT:C4131]
synonym: "fibrolamellar hepatocarcinoma" EXACT [Orphanet:401920]
synonym: "fibrolamellar hepatocellular carcinoma" EXACT [DOID:5015, NCIT:C4131]
synonym: "fibrolamellar oncocytic hepatoma" RELATED [GARD:0009396]
synonym: "fibrolamellar variant of hepatocellular carcinoma" RELATED [GARD:0009396]
synonym: "FL-HCC" RELATED [GARD:0009396]
synonym: "FLC" EXACT [NCIT:C4131, ONCOTREE:FLC]
synonym: "hepatocellular carcinoma (fibrolamellar variant)" RELATED [GARD:0009396]
synonym: "hepatocellular carcinoma with increased stromal fibrosis" RELATED [GARD:0009396]
synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015]
synonym: "hepatocellular fibrolamellar carcinoma" EXACT [NCIT:C4131]
synonym: "liver cell fibrolamellar carcinoma" EXACT [NCIT:C4131]
synonym: "oncocytic hepatocellular tumor" EXACT [DOID:5015, NCIT:C4131]
synonym: "polygonal cell hepatocellular carcinoma with fibrous stroma" RELATED [GARD:0009396]
synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXACT [NCIT:C4131]
xref: DOID:5015 {source="MONDO:equivalentTo"}
xref: EFO:1000256 {source="MONDO:equivalentTo"}
xref: GARD:0009396 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:C22.0 {source="Orphanet:401920", source="ORDO:401920/ntbt"}
xref: ICDO:8171/3 {source="NCIT:C4131"}
xref: MESH:C537258 {source="DOID:5015", source="MONDO:equivalentTo"}
xref: NCIT:C4131 {source="DOID:5015", source="EFO:1000256", source="MONDO:equivalentTo"}
xref: ONCOTREE:FLC {source="MONDO:equivalentTo"}
xref: Orphanet:401920 {source="MONDO:equivalentTo"}
xref: SCTID:253018005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:5015", source="MONDO:equivalentTo"}
xref: UMLS:C0334287 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4131", source="DOID:5015", source="Orphanet:401920", source="MONDO:equivalentTo"}
is_a: MONDO:0007256 {source="DOID:5015", source="DOID:5015/inferred", source="EFO:1000256", source="MESH:C537258", source="NCIT:C4131"} ! hepatocellular carcinoma
property_value: closeMatch http://identifiers.org/snomedct/15619004
property_value: exactMatch DOID:5015
property_value: exactMatch http://identifiers.org/mesh/C537258
property_value: exactMatch http://identifiers.org/snomedct/253018005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334287
property_value: exactMatch NCIT:C4131
property_value: exactMatch Orphanet:401920

[Term]
id: MONDO:0006211
name: fibrous hamartoma of infancy
def: "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." [NCIT:P378]
synonym: "fibrous hamartoma" EXACT [NCIT:C3942]
synonym: "fibrous hamartoma of infancy" EXACT [NCIT:C3942]
synonym: "infantile fibrous hamartoma" EXACT [NCIT:C3942]
xref: EFO:1000257 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3942 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000257"}
xref: SCTID:56364004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3942"}
is_a: MONDO:0024478 {source="NCIT:C3942"} ! mesenchymal hamartoma
property_value: exactMatch http://identifiers.org/snomedct/56364004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265979
property_value: exactMatch NCIT:C3942

[Term]
id: MONDO:0006212
name: flat urothelial hyperplasia
def: "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" [NCIT:C27878]
synonym: "flat urothelial hyperplasia" EXACT [NCIT:C27878]
xref: EFO:1000259 {source="MONDO:equivalentTo"}
xref: NCIT:C27878 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000259"}
is_a: MONDO:0024483 {source="MONDOLEX:0006212", source="NCIT:C27878"} ! urothelial hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333621
property_value: exactMatch NCIT:C27878

[Term]
id: MONDO:0006213
name: floor of mouth mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." [NCIT:C8178]
synonym: "mouth floor mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of floor of mouth" EXACT [NCIT:C8178]
synonym: "mucoepidermoid carcinoma of the floor of mouth" EXACT [NCIT:C8178]
xref: EFO:1000260 {source="MONDO:equivalentTo"}
xref: NCIT:C8178 {source="EFO:1000260", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0280310 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8178", source="MONDO:equivalentTo"}
is_a: MONDO:0021343 {source="MONDO:Redundant", source="MONDOLEX:0006213", source="NCIT:C8178"} ! carcinoma of floor of mouth
is_a: MONDO:0044964 ! oral cavity mucoepidermoid carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280310
property_value: exactMatch NCIT:C8178

[Term]
id: MONDO:0006214
name: follicular variant thyroid gland papillary carcinoma
def: "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland." [NCIT:P378]
synonym: "FVPTC" EXACT [NCIT:C126594]
xref: EFO:1000261 {source="MONDO:equivalentTo"}
xref: NCIT:C126594 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C3714651 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="EFO:1000261", source="NCIT:C126594/inferred"} ! adenocarcinoma
property_value: closeMatch NCIT:C7381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714651
property_value: exactMatch NCIT:C126594

[Term]
id: MONDO:0006215
name: gallbladder adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the gall bladder." [MONDO:DesignPattern]
synonym: "adenocarcinoma of gallbladder" EXACT [NCIT:C9166]
synonym: "adenocarcinoma of the gallbladder" EXACT [DOID:3500, NCIT:C9166]
synonym: "gall bladder adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenocarcinoma" EXACT [NCIT:C9166]
xref: DOID:3500 {source="MONDO:equivalentTo"}
xref: EFO:1000262 {source="MONDO:equivalentTo"}
xref: NCIT:C9166 {source="EFO:1000262", source="DOID:3500", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279651 {source="NCIT:C9166", source="DOID:3500", source="MONDO:equivalentTo"}
is_a: MONDO:0003220 {source="DOID:3500", source="MONDO:Redundant", source="MONDOLEX:0006215", source="NCIT:C9166"} ! gallbladder carcinoma
is_a: MONDO:0004970 {source="DOID:3500", source="EFO:1000262", source="MONDO:Redundant", source="MONDOLEX:0006215", source="NCIT:C9166"} ! adenocarcinoma
property_value: exactMatch DOID:3500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279651
property_value: exactMatch NCIT:C9166

[Term]
id: MONDO:0006216
name: gallbladder adenoma
def: "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." [NCIT:C7720]
synonym: "adenoma of gallbladder" EXACT [NCIT:C7720]
synonym: "adenoma of the gallbladder" EXACT [NCIT:C7720]
synonym: "gall bladder adenoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenoma" EXACT [NCIT:C7720]
xref: DOID:0050893 {source="MONDO:equivalentTo"}
xref: EFO:1000263 {source="MONDO:equivalentTo"}
xref: NCIT:C7720 {source="EFO:1000263", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0238137 {source="MONDO:equivalentTo", source="NCIT:C7720", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0006180 {source="NCIT:C7720"} ! digestive system adenoma
is_a: MONDO:0021253 ! gallbladder neoplasm
is_a: MONDO:0021416 {source="MONDO:Redundant", source="NCIT:C7720"} ! polyp of gallbladder
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:0050893"} ! biliary tract neoplasm (disease)
property_value: exactMatch DOID:0050893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238137
property_value: exactMatch NCIT:C7720

[Term]
id: MONDO:0006217
name: gallbladder adenosquamous carcinoma
def: "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C7356]
synonym: "adenosquamous carcinoma of gallbladder" EXACT [DOID:5627, NCIT:C7356]
synonym: "adenosquamous carcinoma of the gallbladder" EXACT [DOID:5627, NCIT:C7356]
synonym: "adenosquamous gallbladder carcinoma" EXACT [MONDO:0003552]
synonym: "gall bladder adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenosquamous cancer" EXACT [NCIT:C7356]
synonym: "gallbladder adenosquamous carcinoma" EXACT [NCIT:C7356]
synonym: "GBASC" RELATED [ONCOTREE:GBASC]
xref: DOID:5627 {source="MONDO:equivalentTo"}
xref: EFO:1000264 {source="MONDO:equivalentTo"}
xref: NCIT:C7356 {source="EFO:1000264", source="MONDO:equivalentTo", source="DOID:5627", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: ONCOTREE:GBASC {source="MONDO:equivalentTo"}
xref: UMLS:C1333741 {source="NCIT:C7356", source="MONDO:equivalentTo", source="DOID:5627"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0006217", source="NCIT:C7356"} ! adenosquamous carcinoma
is_a: MONDO:0006220 ! gallbladder squamous cell carcinoma
property_value: exactMatch DOID:5627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333741
property_value: exactMatch NCIT:C7356

[Term]
id: MONDO:0006218
name: gallbladder biliary intraepithelial neoplasia
def: "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." [NCIT:C43606]
synonym: "gallbladder biliary intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "gallbladder BilIN" EXACT [NCIT:C43606]
synonym: "gallbladder dysplasia" EXACT [NCIT:C43606]
synonym: "gallbladder intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "intracystic biliary intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "intracystic BilIN" EXACT [NCIT:C43606]
xref: EFO:1000265 {source="MONDO:equivalentTo"}
xref: NCIT:C43606 {source="EFO:1000265", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1708174 {source="NCIT:C43606", source="MONDO:equivalentTo"}
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C43606"} ! gallbladder neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708174
property_value: exactMatch NCIT:C43606

[Term]
id: MONDO:0006219
name: gallbladder small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." [NCIT:C6763]
synonym: "gall bladder small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder Oat cell carcinoma" EXACT [NCIT:C6763]
synonym: "gallbladder small cell carcinoma" EXACT [MONDO:0004115, NCIT:C6763]
synonym: "gallbladder small cell NEC" EXACT [NCIT:C6763]
synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [NCIT:C6763]
synonym: "Oat cell carcinoma of gallbladder" EXACT [NCIT:C6763]
synonym: "Oat cell carcinoma of the gallbladder" EXACT [DOID:7133, NCIT:C6763]
synonym: "small cell carcinoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of gallbladder" EXACT [NCIT:C6763]
synonym: "small cell carcinoma of the gallbladder" EXACT [NCIT:C6763]
xref: DOID:7133 {source="MONDO:equivalentTo"}
xref: EFO:1000266 {source="MONDO:equivalentTo"}
xref: NCIT:C6763 {source="MONDO:equivalentTo", source="EFO:1000266", source="MONDO:kboom-pr-1.00/0.86/13.24", source="DOID:7133"}
xref: UMLS:C1333759 {source="MONDO:equivalentTo", source="NCIT:C6763", source="DOID:7133"}
is_a: MONDO:0000402 {source="DOID:7133", source="MONDO:Redundant", source="MONDOLEX:0006219", source="NCIT:C6763"} ! small cell carcinoma
is_a: MONDO:0003220 {source="DOID:7133", source="MONDO:Redundant", source="MONDOLEX:0006219", source="NCIT:C6763/inferred"} ! gallbladder carcinoma
is_a: MONDO:0024502 ! gallbladder neuroendocrine neoplasm
property_value: exactMatch DOID:7133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333759
property_value: exactMatch NCIT:C6763

[Term]
id: MONDO:0006220
name: gallbladder squamous cell carcinoma
def: "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." [NCIT:C9170]
synonym: "epidermoid carcinoma of gallbladder" EXACT [NCIT:C9170]
synonym: "epidermoid carcinoma of the gallbladder" EXACT [NCIT:C9170]
synonym: "epidermoid gallbladder carcinoma" EXACT [DOID:5535, NCIT:C9170]
synonym: "gall bladder squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder squamous cell cancer" EXACT [NCIT:C9170]
synonym: "gallbladder squamous cell carcinoma" EXACT [NCIT:C9170]
synonym: "squamous cell carcinoma of gallbladder" EXACT [NCIT:C9170]
synonym: "squamous cell carcinoma of the gallbladder" EXACT [DOID:5535, NCIT:C9170]
synonym: "squamous cell gallbladder carcinoma" EXACT [NCIT:C9170]
xref: DOID:5535 {source="MONDO:equivalentTo"}
xref: EFO:1000267 {source="MONDO:equivalentTo"}
xref: NCIT:C9170 {source="DOID:5535", source="EFO:1000267", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0279658 {source="DOID:5535", source="MONDO:equivalentTo", source="NCIT:C9170"}
is_a: MONDO:0003220 {source="DOID:5535", source="MONDO:Redundant", source="MONDOLEX:0006220", source="NCIT:C9170"} ! gallbladder carcinoma
is_a: MONDO:0005096 {source="DOID:5535", source="EFO:1000267", source="MONDO:Redundant", source="MONDOLEX:0006220", source="NCIT:C9170"} ! squamous cell carcinoma
property_value: exactMatch DOID:5535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279658
property_value: exactMatch NCIT:C9170

[Term]
id: MONDO:0006221
name: gastric adenoma
def: "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." [NCIT:C7699]
synonym: "adenoma of stomach" EXACT [NCIT:C7699]
synonym: "adenoma of the stomach" EXACT [NCIT:C7699]
synonym: "gastric adenoma" EXACT [NCIT:C7699]
synonym: "stomach adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000268 {source="MONDO:equivalentTo"}
xref: NCIT:C7699 {source="MONDO:equivalentTo", source="EFO:1000268", source="exact-label-match"}
xref: UMLS:C0149826 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7699"}
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C7699"} ! digestive system adenoma
is_a: MONDO:0008277 {source="NCIT:C7699"} ! stomach polyp
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C7699", source="OWLReasoner:2017", source="indirect"} ! gastric neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149826
property_value: exactMatch NCIT:C7699

[Term]
id: MONDO:0006222
name: gastric choriocarcinoma
def: "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." [NCIT:C95749]
synonym: "gastric choriocarcinoma" EXACT [NCIT:C95749]
xref: EFO:1000269 {source="MONDO:equivalentTo"}
xref: NCIT:C95749 {source="MONDO:equivalentTo", source="EFO:1000269", source="exact-label-match"}
xref: UMLS:C2987398 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C95749"}
is_a: MONDO:0003112 {source="MONDO:Redundant", source="NCIT:C95749"} ! malignant gastric germ cell tumor
is_a: MONDO:0003578 {source="NCIT:C95749"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005207 {source="EFO:1000269", source="MONDO:Redundant", source="NCIT:C95749"} ! choriocarcinoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987398
property_value: exactMatch NCIT:C95749

[Term]
id: MONDO:0006223
name: gastric diffuse large B-cell lymphoma
def: "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." [NCIT:C5253]
synonym: "gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell gastric lymphoma" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell lymphoma of stomach" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell lymphoma of the stomach" EXACT [NCIT:C5253]
synonym: "primary gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253]
xref: EFO:1000270 {source="MONDO:equivalentTo"}
xref: NCIT:C5253 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000270"}
xref: UMLS:C1335483 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5253", source="MONDO:equivalentTo"}
is_a: MONDO:0018905 {source="EFO:1000270", source="MONDO:Redundant", source="NCIT:C5253"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335483
property_value: exactMatch NCIT:C5253

[Term]
id: MONDO:0006224
name: gastric hamartomatous polyp
def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." [NCIT:C4373]
synonym: "gastric hamartomatous polyp" EXACT [NCIT:C4373]
synonym: "hamartoma of stomach" EXACT [NCIT:C4373]
synonym: "hamartoma of the stomach" EXACT [NCIT:C4373]
synonym: "stomach hamartoma (disease)" EXACT [MONDO:patterns/location]
xref: EFO:1000271 {source="MONDO:equivalentTo"}
xref: NCIT:C4373 {source="DesignPattern", source="EFO:1000271", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:235685007 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C0341225 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4373", source="MONDO:equivalentTo"}
is_a: MONDO:0006231 {source="NCIT:C4373"} ! gastrointestinal hamartoma
is_a: MONDO:0021085 ! gastric neoplasm
property_value: exactMatch http://identifiers.org/snomedct/235685007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341225
property_value: exactMatch NCIT:C4373

[Term]
id: MONDO:0006225
name: gastric mantle cell lymphoma
def: "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." [NCIT:C27440]
synonym: "gastric mantle cell lymphoma" EXACT [NCIT:C27440]
synonym: "mantle cell lymphoma of stomach" EXACT [NCIT:C27440]
synonym: "mantle cell lymphoma of the stomach" EXACT [NCIT:C27440]
synonym: "stomach mantle cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000272 {source="MONDO:equivalentTo"}
xref: NCIT:C27440 {source="EFO:1000272", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333780 {source="NCIT:C27440", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0018876 {source="MONDO:Redundant", source="NCIT:C27440"} ! mantle cell lymphoma
is_a: MONDO:0042493 ! gastric non-hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333780
property_value: exactMatch NCIT:C27440

[Term]
id: MONDO:0006226
name: gastric mucosa-associated lymphoid tissue lymphoma
def: "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." [NCIT:C5266]
synonym: "gastric MALT lymphoma" EXACT [NCIT:C5266]
synonym: "gastric MALToma" EXACT [NCIT:C5266]
synonym: "gastric mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5266]
synonym: "MALT lymphoma of stomach" EXACT [NCIT:C5266]
synonym: "MALT lymphoma of the stomach" EXACT [NCIT:C5266]
synonym: "MALToma of stomach" EXACT [NCIT:C5266]
synonym: "MALToma of the stomach" EXACT [NCIT:C5266]
synonym: "primary gastric B-cell MALT lymphoma" EXACT [NCIT:C5266]
synonym: "primary gastric MALT lymphoma" EXACT [NCIT:C5266]
synonym: "primary MALT lymphoma of stomach" EXACT [NCIT:C5266]
synonym: "primary MALT lymphoma of the stomach" EXACT [NCIT:C5266]
synonym: "stomach MALT lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000274 {source="MONDO:equivalentTo"}
xref: NCIT:C5266 {source="EFO:1000274", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1333782 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5266", source="MONDO:equivalentTo"}
is_a: MONDO:0007650 {source="MONDO:Redundant", source="MONDOLEX:0006226", source="NCIT:C5266"} ! MALT lymphoma
is_a: MONDO:0042493 ! gastric non-hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333782
property_value: exactMatch NCIT:C5266

[Term]
id: MONDO:0006227
name: gastric neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." [NCIT:P378]
synonym: "gastric carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric ECL cell NET" EXACT [NCIT:C4635]
synonym: "gastric ECL cell NET G1" EXACT [NCIT:C4635]
synonym: "gastric ECL cell, histamine-producing NET" EXACT [NCIT:C4635]
synonym: "gastric ECL-cell carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric enterochromaffin-like cell neuroendocrine tumor" EXACT [NCIT:C4635]
synonym: "gastric NET G1" EXACT [NCIT:C4635]
synonym: "grade 1 neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach neuroendocrine neoplasm G1" EXACT []
synonym: "stomach neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000275 {source="MONDO:equivalentTo"}
xref: NCIT:C4635 {source="EFO:1000275", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0349529 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4635"}
is_a: MONDO:0000540 ! small intestinal neuroendocrine tumor G1
is_a: MONDO:0015062 {source="NCIT:C4635"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349529
property_value: exactMatch NCIT:C4635

[Term]
id: MONDO:0006228
name: gastric papillary adenocarcinoma
def: "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." [NCIT:C5472]
synonym: "gastric papillary adenocarcinoma" EXACT [NCIT:C5472]
synonym: "papillary adenocarcinoma of stomach" EXACT [DOID:5593, NCIT:C5472]
synonym: "papillary adenocarcinoma of the stomach" EXACT [NCIT:C5472]
synonym: "papillary stomach adenocarcinoma" RELATED [ONCOTREE:PSTAD]
synonym: "stomach papillary adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5593 {source="MONDO:equivalentTo"}
xref: EFO:1000276 {source="MONDO:equivalentTo"}
xref: NCIT:C5472 {source="EFO:1000276", source="MONDO:equivalentTo", source="DOID:5593", source="exact-label-match"}
xref: ONCOTREE:PSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1333785 {source="NCIT:C5472", source="MONDO:equivalentTo", source="DOID:5593"}
is_a: MONDO:0002512 {source="DOID:5593", source="MONDO:Redundant", source="MONDOLEX:0006228", source="NCIT:C5472"} ! papillary adenocarcinoma
is_a: MONDO:0005036 {source="DOID:5593", source="EFO:1000276", source="MONDO:Redundant", source="MONDOLEX:0006228", source="NCIT:C5472/inferred", source="ONCOTREE:PSTAD"} ! gastric adenocarcinoma
property_value: exactMatch DOID:5593
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333785
property_value: exactMatch NCIT:C5472

[Term]
id: MONDO:0006229
name: gastric small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." [NCIT:C6764]
synonym: "gastric Oat cell carcinoma" EXACT [NCIT:C6764]
synonym: "gastric small cell carcinoma" EXACT [MONDO:0003920, NCIT:C6764]
synonym: "gastric small cell neuroendocrine carcinoma" EXACT [NCIT:C6764]
synonym: "Oat cell carcinoma of stomach" EXACT [NCIT:C6764]
synonym: "Oat cell carcinoma of the stomach" EXACT [NCIT:C6764]
synonym: "small cell carcinoma of stomach" EXACT [DOID:6552, NCIT:C6764]
synonym: "small cell carcinoma of the stomach" EXACT [NCIT:C6764]
synonym: "stomach small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "STSC" RELATED [ONCOTREE:STSC]
xref: DOID:6552 {source="MONDO:equivalentTo"}
xref: EFO:1000277 {source="MONDO:equivalentTo"}
xref: NCIT:C6764 {source="MONDO:equivalentTo", source="EFO:1000277", source="MONDO:kboom-pr-1.00/0.87/13.24", source="DOID:6552"}
xref: ONCOTREE:STSC {source="MONDO:equivalentTo"}
xref: UMLS:C1333788 {source="MONDO:equivalentTo", source="NCIT:C6764", source="DOID:6552"}
is_a: MONDO:0000402 {source="DOID:6552", source="MONDO:Redundant", source="MONDOLEX:0006229", source="NCIT:C6764"} ! small cell carcinoma
is_a: MONDO:0003111 ! gastric neuroendocrine neoplasm
is_a: MONDO:0004950 {source="DOID:6552", source="EFO:1000277", source="MONDO:Redundant", source="NCIT:C6764/inferred"} ! gastric carcinoma
property_value: exactMatch DOID:6552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333788
property_value: exactMatch NCIT:C6764

[Term]
id: MONDO:0006230
name: gastric squamous cell carcinoma
def: "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." [NCIT:C5475]
subset: ordo_disease {source="Orphanet:418959"}
synonym: "gastric (stomach) squamous cell cancer" EXACT [NCIT:C5475]
synonym: "gastric squamous cell carcinoma" EXACT [NCIT:C5475, Orphanet:418959]
synonym: "squamous cell carcinoma of stomach" EXACT [DOID:5516, MONDO:0018482, NCIT:C5475]
synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475]
synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5516 {source="MONDO:equivalentTo"}
xref: EFO:1000278 {source="MONDO:equivalentTo"}
xref: ICD10:C16.0 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.1 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.2 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.3 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.4 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.5 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: ICD10:C16.8 {source="Orphanet:418959", source="ORDO:418959/nd"}
xref: NCIT:C5475 {source="EFO:1000278", source="MONDO:equivalentTo", source="DOID:5516"}
xref: Orphanet:418959 {source="MONDO:equivalentTo"}
xref: SCTID:766980008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333789 {source="NCIT:C5475", source="MONDO:equivalentTo", source="DOID:5516"}
xref: UMLS:CN237470 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="NCIT:C5475", source="Orphanet:418959", source="indirect"} ! gastric carcinoma
is_a: MONDO:0005096 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="MONDOLEX:0006230", source="NCIT:C5475"} ! squamous cell carcinoma
property_value: exactMatch DOID:5516
property_value: exactMatch http://identifiers.org/snomedct/766980008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237470
property_value: exactMatch NCIT:C5475
property_value: exactMatch Orphanet:418959

[Term]
id: MONDO:0006231
name: gastrointestinal hamartoma
def: "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." [NCIT:C96475]
synonym: "gastrointestinal hamartoma" EXACT [NCIT:C96475]
xref: EFO:1000280 {source="MONDO:equivalentTo"}
xref: NCIT:C96475 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000280"}
xref: UMLS:C3272802 {source="MONDO:equivalentTo", source="NCIT:C96475"}
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C8372", source="NCIT:C96475/inferred"} ! hamartoma (disease)
is_a: MONDO:0021223 ! digestive system neoplasm
is_a: MONDO:0024292 {source="NCIT:C96475"} ! gastrointestinal polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272802
property_value: exactMatch NCIT:C96475

[Term]
id: MONDO:0006232
name: giant cell tumor of soft tissue
def: "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." [NCIT:C49107]
synonym: "GCT-ST" EXACT [NCIT:C49107]
synonym: "giant cell tumor of soft tissue" EXACT [NCIT:C49107]
synonym: "Osteoclastoma of soft tissue" EXACT [NCIT:C49107]
xref: EFO:1000281 {source="MONDO:equivalentTo"}
xref: ICDO:9251/1 {source="NCIT:C49107"}
xref: NCIT:C49107 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000281"}
xref: UMLS:C0334553 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C49107"}
is_a: MONDO:0002402 ! malignant giant cell tumor
is_a: MONDO:0005089 {source="EFO:1000281"} ! sarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334553
property_value: exactMatch NCIT:C49107

[Term]
id: MONDO:0006233
name: gonadal teratoma
def: "A teratoma that arises from the testis or ovary." [NCIT:P378]
synonym: "gonadal teratoma" EXACT [NCIT:C98291]
synonym: "teratoma, gonads" EXACT [NCIT:C98291]
xref: EFO:1000282 {source="MONDO:equivalentTo"}
xref: NCIT:C98291 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3273942 {source="NCIT:C98291", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C98291"} ! teratoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273942
property_value: exactMatch NCIT:C98291

[Term]
id: MONDO:0006234
name: grade III prostatic intraepithelial neoplasia
def: "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." [NCIT:C3642]
synonym: "adenocarcinoma in situ of prostate" EXACT [NCIT:C3642]
synonym: "adenocarcinoma in situ of the prostate" EXACT [NCIT:C3642]
synonym: "carcinoma in situ of prostate" EXACT [DOID:8634]
synonym: "carcinoma in situ of prostate gland" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "grade 3 pin" EXACT [NCIT:C3642]
synonym: "grade 3 prostatic intraepithelial neoplasia" EXACT [NCIT:C3642]
synonym: "grade III pin" EXACT [DOID:8634, NCIT:C3642]
synonym: "pin III" EXACT [DOID:8634]
synonym: "prostate adenocarcinoma in situ" EXACT [NCIT:C3642]
synonym: "prostate carcinoma in situ" EXACT [MONDO:0004623]
synonym: "prostate gland carcinoma in situ" EXACT []
synonym: "prostate gland in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 prostate gland carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: COHD:200970 {source="MONDO:equivalentTo"}
xref: DOID:8634 {source="MONDO:equivalentTo"}
xref: EFO:1000283 {source="MONDO:equivalentTo"}
xref: ICD10:D07.5 {source="DOID:8634", source="MONDO:equivalentTo"}
xref: ICD9:233.4 {source="DOID:8634", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3642 {source="EFO:1000283", source="DOID:8634", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: SCTID:92691004 {source="DOID:8634", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154088 {source="DOID:8634", source="MONDO:equivalentTo", source="NCIT:C3642"}
is_a: MONDO:0004647 {source="DOID:8634", source="MONDO:Redundant", source="MONDOLEX:0004623", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0005159 ! prostate carcinoma
is_a: MONDO:0005193 {source="EFO:1000283", source="MONDOLEX:0006234", source="NCIT:C3642/inferred"} ! prostate intraepithelial neoplasia
property_value: closeMatch http://identifiers.org/snomedct/128640002
property_value: exactMatch DOID:8634
property_value: exactMatch http://identifiers.org/snomedct/92691004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154088
property_value: exactMatch NCIT:C3642

[Term]
id: MONDO:0006235
name: granular cell tumor
def: "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." [NCIT:C3474]
comment: Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement
subset: gard_rare {source="GARD:0009618"}
synonym: "Abrikosoff's granulous cell tumor" RELATED [GARD:0009618]
synonym: "Abrikosoff's tumor" RELATED [GARD:0009618]
synonym: "Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "Abrikosov’s tumor" RELATED [GARD:0009618]
synonym: "Abrikossoff tumor" EXACT [NCIT:C3474]
synonym: "Abrikossoff's tumor" EXACT [NCIT:C3474]
synonym: "GCT" RELATED [ONCOTREE:GCT]
synonym: "giant granulocellular Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "granular cell myoblastoma" EXACT [NCIT:C3474]
synonym: "granular cell neoplasm" EXACT [NCIT:C3474]
synonym: "granular cell nerve sheath tumor" EXACT [NCIT:C3474]
synonym: "granular cell schwannoma" EXACT [NCIT:C3474]
synonym: "granular cell tumor" EXACT [NCIT:C3474]
synonym: "granular cell tumor (morphologic abnormality)" EXACT [DOID:2411]
synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [DOID:2411]
synonym: "malignant variant of Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "neoplasm of granular cell" NARROW [DOID:2411, NCIT:C3474]
xref: DOID:2411 {source="MONDO:equivalentTo"}
xref: EFO:1000284 {source="MONDO:equivalentTo"}
xref: GARD:0009618 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9580/0 {source="NCIT:C3474"}
xref: MESH:C535558 {source="MONDO:equivalentTo"}
xref: MESH:D016586 {source="DOID:2411", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3474 {source="EFO:1000284", source="DOID:2411", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:GCT {source="MONDO:equivalentTo"}
xref: SCTID:404035005 {source="DOID:2411", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.40"}
xref: UMLS:C0085167 {source="DOID:2411", source="MONDO:equivalentTo", source="NCIT:C3474"}
is_a: MONDO:0002547 {source="MONDOLEX:0006235", source="NCIT:C3474"} ! nerve sheath neoplasm
property_value: closeMatch http://identifiers.org/snomedct/12169001
property_value: closeMatch http://identifiers.org/snomedct/189954007
property_value: exactMatch DOID:2411
property_value: exactMatch http://identifiers.org/mesh/C535558
property_value: exactMatch http://identifiers.org/mesh/D016586
property_value: exactMatch http://identifiers.org/snomedct/404035005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085167
property_value: exactMatch NCIT:C3474
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor xsd:anyURI {source="GARD:0009618"}

[Term]
id: MONDO:0006236
name: obsolete granular cell tumor of the neurohypophysis
is_obsolete: true
replaced_by: MONDO:0003256

[Term]
id: MONDO:0006237
name: granulocytic sarcoma
def: "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" [NCIT:P378]
synonym: "granulocytic sarcoma" EXACT [NCIT:C35815]
synonym: "sarcoma, granulocytic, malignant" EXACT [NCIT:C35815]
xref: EFO:1000286 {source="MONDO:equivalentTo"}
xref: NCIT:C35815 {source="EFO:1000286", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.79/0.91"}
is_a: MONDO:0006861 {source="MONDOLEX:0006237", source="NCIT:C35815"} ! myeloid sarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152276
property_value: exactMatch NCIT:C35815

[Term]
id: MONDO:0006238
name: growth hormone-producing pituitary gland adenoma
alt_id: MONDO:0005332
def: "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." [NCIT:C7461]
subset: ordo_group_of_disorders {source="Orphanet:96256"}
synonym: "GH cell adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461]
synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone producing pituitary adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255, NCIT:C7461]
synonym: "growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone-producing adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "somatotrope adenoma" EXACT [NCIT:C7461]
synonym: "somatotroph adenoma" EXACT [DOID:6255, NCIT:C7461]
synonym: "Somatotrophinoma" EXACT [NCIT:C7461]
synonym: "somatotropic adenoma" RELATED [Orphanet:96256]
xref: DOID:6255 {source="MONDO:equivalentTo"}
xref: EFO:0004125 {source="MONDO:equivalentTo"}
xref: EFO:1000287 {source="MONDO:equivalentTo"}
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="Orphanet:96256", source="ORDO:96256/nd"}
xref: ICD10:E22.0 {source="Orphanet:96256", source="ORDO:96256/nd"}
xref: NCIT:C7461 {source="EFO:1000287", source="MONDO:equivalentTo"}
xref: Orphanet:96256 {source="MONDO:equivalentTo"}
xref: SCTID:254957009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
is_a: MONDO:0006373 {source="DOID:6255/inferred", source="MONDO:Redundant", source="NCIT:C7461", source="Orphanet:96256/inferred", source="linkedlifedata"} ! pituitary gland adenoma
is_a: MONDO:0019927 {source="MONDO:Redundant", source="NCIT:C7461"} ! growth hormone-producing pituitary gland neoplasm
property_value: closeMatch http://identifiers.org/mesh/D049912
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346302
property_value: exactMatch DOID:6255
property_value: exactMatch http://identifiers.org/snomedct/254957009
property_value: exactMatch NCIT:C7461
property_value: exactMatch Orphanet:96256

[Term]
id: MONDO:0006239
name: head and neck paraganglioma
def: "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCIT:C5327]
synonym: "craniocervical region paraganglioma" EXACT [MONDO:patterns/location]
synonym: "head and neck paraganglioma" EXACT [NCIT:C5327]
synonym: "paraganglioma of craniocervical region" EXACT [MONDO:design_pattern]
synonym: "paraganglioma of head and neck" EXACT [NCIT:C5327]
synonym: "paraganglioma of the head and neck" EXACT [NCIT:C5327]
xref: EFO:1000288 {source="MONDO:equivalentTo"}
xref: NCIT:C5327 {source="MONDO:equivalentTo", source="EFO:1000288", source="exact-label-match"}
xref: UMLS:C1333944 {source="MONDO:equivalentTo", source="NCIT:C5327"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C5327/inferred", source="OWLReasoner:2017"} ! paraganglioma
is_a: MONDO:0005586 {source="EFO:1000288", source="MONDO:Redundant", source="NCIT:C5327", source="indirect"} ! head and neck neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333944
property_value: exactMatch NCIT:C5327

[Term]
id: MONDO:0006240
name: obsolete hemangiopericytic neoplasm
is_obsolete: true
replaced_by: MONDO:0002789

[Term]
id: MONDO:0006241
name: hepatic granuloma
def: "A granuloma located in the liver." [NCIT:P378]
comment: Editor note: check neoplasm classification
xref: EFO:1000291 {source="MONDO:equivalentTo"}
xref: ICD9:572.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:714253009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0745754 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004721 ! liver neoplasm
property_value: exactMatch http://identifiers.org/snomedct/714253009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745754
property_value: exactMatch NCIT:C4936

[Term]
id: MONDO:0006242
name: obsolete hepatoblastoma
is_obsolete: true
replaced_by: MONDO:0018666

[Term]
id: MONDO:0006243
name: hepatoid adenocarcinoma
def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." [NCIT:C66950]
synonym: "hepatoid adenocarcinoma" EXACT [NCIT:C66950]
synonym: "hepatoid carcinoma" EXACT [NCIT:C66950]
xref: DOID:0060534 {source="MONDO:equivalentTo"}
xref: EFO:1000293 {source="MONDO:equivalentTo"}
xref: ICDO:8576/3 {source="NCIT:C66950"}
xref: NCIT:C66950 {source="EFO:1000293", source="DOID:0060534", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C66950"}
is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract
property_value: exactMatch DOID:0060534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266090
property_value: exactMatch NCIT:C66950

[Term]
id: MONDO:0006244
name: HER2 positive breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." [NCIT:C53556]
synonym: "ERBB2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Overexpressing breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Positive breast cancer" EXACT [NCIT:C53556]
synonym: "HER2 positive breast carcinoma" EXACT [NCIT:C53556]
synonym: "Her2-receptor positive breast cancer" EXACT [MONDO:0000617]
xref: DOID:0060079 {source="MONDO:equivalentTo"}
xref: EFO:1000294 {source="MONDO:equivalentTo"}
xref: NCIT:C53556 {source="EFO:1000294", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:427685000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:C1960398 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C53556"}
is_a: MONDO:0006116 {source="NCIT:C53556"} ! breast carcinoma by gene expression profile
property_value: exactMatch DOID:0060079
property_value: exactMatch http://identifiers.org/snomedct/427685000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960398
property_value: exactMatch NCIT:C53556

[Term]
id: MONDO:0006245
name: hidradenocarcinoma
def: "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." [NCIT:C54664]
synonym: "clear cell eccrine carcinoma" EXACT [NCIT:C54664]
synonym: "hidradenocarcinoma" EXACT [NCIT:C54664]
xref: EFO:1000295 {source="MONDO:equivalentTo"}
xref: GARD:0010439 {source="MONDO:equivalentTo"}
xref: ICDO:8402/3 {source="NCIT:C54664"}
xref: NCIT:C54664 {source="EFO:1000295", source="MONDO:equivalentTo", source="exact-label-match"}
is_a: MONDO:0005004 {source="EFO:1000295", source="NCIT:C54664"} ! clear cell adenocarcinoma
is_a: MONDO:0005524 {source="EFO:1000295", source="NCIT:C54664"} ! sweat gland carcinoma
property_value: exactMatch NCIT:C54664

[Term]
id: MONDO:0006246
name: high grade surface osteosarcoma
def: "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:C53958]
synonym: "high grade surface osteosarcoma" EXACT [NCIT:C53958]
synonym: "high-grade surface osteosarcoma" RELATED [ONCOTREE:HGSOS]
xref: EFO:1000296 {source="MONDO:equivalentTo"}
xref: ICDO:9194/3 {source="NCIT:C53958"}
xref: NCIT:C53958 {source="EFO:1000296", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:HGSOS {source="MONDO:equivalentTo"}
xref: UMLS:C1266165 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C53958", source="MONDO:equivalentTo"}
is_a: MONDO:0002628 {source="NCIT:C53958"} ! peripheral osteosarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266165
property_value: exactMatch NCIT:C53958

[Term]
id: MONDO:0006247
name: histiocytic and dendritic cell neoplasm
def: "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" [NCIT:C9294]
subset: ordo_group_of_disorders {source="Orphanet:98287"}
synonym: "histiocytic and dendritic cell" RELATED [DOID:5621]
synonym: "histiocytic and dendritic cell cancer" RELATED [DOID:5621]
synonym: "histiocytic and dendritic cell neoplasm" EXACT [NCIT:C9294]
synonym: "histiocytic and Dendritic cell neoplasms" EXACT [NCIT:C9294]
synonym: "histiocytic and dendritic cell tumor" RELATED [Orphanet:98287]
synonym: "histiocytic and Dendritic cell tumors" EXACT [NCIT:C9294]
xref: DOID:5621 {source="MONDO:equivalentTo"}
xref: EFO:1000297 {source="MONDO:equivalentTo"}
xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:98287 {source="MONDO:equivalentTo"}
xref: UMLS:C1334030 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="NCIT:C9294"}
xref: UMLS:CN206982 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015757 {source="Orphanet:98287"} ! lymphoid hemopathy
is_a: MONDO:0044881 {source="NCIT:C9294"} ! hematopoietic and lymphoid cell neoplasm
property_value: exactMatch DOID:5621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206982
property_value: exactMatch NCIT:C9294
property_value: exactMatch Orphanet:98287

[Term]
id: MONDO:0006248
name: hydatidiform mole
def: "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." [NCIT:C3110]
subset: ordo_disease {source="Orphanet:99927"}
synonym: "hydatid Mole" EXACT [NCIT:C3110]
synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110]
synonym: "hydatidiform mole, recurrent" RELATED [OMIMPS:231090]
synonym: "HYDM" RELATED [GARD:0010263]
synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927]
xref: EFO:1000298 {source="MONDO:equivalentTo"}
xref: GARD:0010263 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:O01.0 {source="ORDO:99927/btnt", source="Orphanet:99927"}
xref: ICD10:O01.1 {source="ORDO:99927/btnt", source="Orphanet:99927"}
xref: ICD10:O01.9 {source="ORDO:99927/btnt", source="Orphanet:99927"}
xref: ICD9:631 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9100/0 {source="NCIT:C3110"}
xref: MedDRA:10020481 {source="ORDO:99927/e", source="Orphanet:99927"}
xref: MESH:D006828 {source="MONDO:equivalentTo", source="ORDO:99927/e", source="Orphanet:99927"}
xref: NCIT:C3110 {source="EFO:1000298", source="MONDO:equivalentTo"}
xref: OMIMPS:231090 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MP {source="MONDO:equivalentTo"}
xref: Orphanet:99927 {source="MONDO:equivalentTo"}
xref: SCTID:44782008 {source="MONDO:kboom-pr-0.90/0.76/0.51", source="MONDO:equivalentTo"}
xref: UMLS:C0020217 {source="NCIT:C3110", source="MONDO:equivalentTo", source="ORDO:99927/e", source="Orphanet:99927"}
is_a: MONDO:0016784 {source="MONDO:Redundant", source="ONCOTREE:MP", source="Orphanet:99927"} ! gestational trophoblastic disease
is_a: MONDO:0021218 ! placenta neoplasm
property_value: exactMatch http://identifiers.org/meddra/10020481
property_value: exactMatch http://identifiers.org/mesh/D006828
property_value: exactMatch http://identifiers.org/snomedct/44782008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020217
property_value: exactMatch NCIT:C3110
property_value: exactMatch Orphanet:99927

[Term]
id: MONDO:0006249
name: hyperplastic polyp
def: "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." [NCIT:C4083]
synonym: "Hp" EXACT [NCIT:C4083]
synonym: "metaplastic polyp" EXACT [NCIT:C4083]
synonym: "MP" EXACT [NCIT:C4083]
xref: EFO:1000299 {source="MONDO:equivalentTo"}
xref: NCIT:C4083 {source="MONDO:equivalentTo", source="EFO:1000299"}
xref: UMLS:C0333983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4083"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005079 {source="EFO:1000299", source="NCIT:C4083/inferred"} ! polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333983
property_value: exactMatch NCIT:C4083

[Term]
id: MONDO:0006250
name: ileal neuroendocrine tumor G1
alt_id: MONDO:0021536
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4935]
synonym: "carcinoid tumor of ileum" EXACT [NCIT:C4935]
synonym: "carcinoid tumor of the ileum" EXACT [NCIT:C4935]
synonym: "grade 1 neuroendocrine neoplasm of ileum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileal carcinoid tumor" EXACT [NCIT:C4935]
synonym: "ileal NET G1" EXACT [NCIT:C4935]
synonym: "ileal neuroendocrine tumor G1" EXACT [NCIT:C4935]
synonym: "ileum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileum carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "ileum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileum neuroendocrine neoplasm G1" EXACT []
synonym: "ileum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000300 {source="MONDO:equivalentTo"}
xref: ICD9:209.03 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4935 {source="EFO:1000300", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:425318003 {source="MONDO:equivalentTo"}
xref: UMLS:C0745216 {source="MONDO:equivalentTo", source="NCIT:C4935"}
is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C4935", source="linkedlifedata"} ! small intestinal neuroendocrine tumor G1
is_a: MONDO:0006155 ! colon neuroendocrine tumor G1
is_a: MONDO:0015065 {source="MONDO:Redundant", source="NCIT:C4935"} ! ileal neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://identifiers.org/snomedct/425318003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745216
property_value: exactMatch NCIT:C4935

[Term]
id: MONDO:0006251
name: inclusion body fibromatosis (disease)
def: "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." [NCIT:C3456]
synonym: "digital fibrous tumor of Reye" EXACT [NCIT:C3456]
synonym: "inclusion body fibromatosis" EXACT [MONDO:ambiguous, NCIT:C3456]
synonym: "infantile digital fibroma/fibromatosis" EXACT [NCIT:C3456]
synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456]
synonym: "Reye tumor" EXACT [NCIT:C3456]
synonym: "Reye's tumor" EXACT [NCIT:C3456]
xref: EFO:1000301 {source="MONDO:equivalentTo"}
xref: HP:0025197 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C3456 {source="MONDO:equivalentTo", source="EFO:1000301"}
is_a: MONDO:0005031 {source="EFO:1000301", source="NCIT:C3456"} ! fibromatosis
property_value: exactMatch NCIT:C3456

[Term]
id: MONDO:0006252
name: obsolete infiltrating bladder lymphoepithelioma-like carcinoma
is_obsolete: true
replaced_by: MONDO:0004299

[Term]
id: MONDO:0006253
name: obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant
is_obsolete: true
replaced_by: MONDO:0004278

[Term]
id: MONDO:0006254
name: intestinal type adenocarcinoma
def: "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." [NCIT:C4126]
synonym: "intestinal type carcinoma" EXACT [NCIT:C4126]
synonym: "intestinal-type adenocarcinoma" EXACT [NCIT:C4126]
xref: EFO:1000304 {source="MONDO:equivalentTo"}
xref: ICDO:8144/3 {source="NCIT:C4126"}
xref: NCIT:C4126 {source="MONDO:equivalentTo", source="EFO:1000304", source="exact-label-match"}
xref: UMLS:C0334279 {source="MONDO:equivalentTo", source="NCIT:C4126"}
is_a: MONDO:0004970 {source="EFO:1000304", source="MONDOLEX:0006254", source="NCIT:C4126"} ! adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334279
property_value: exactMatch NCIT:C4126

[Term]
id: MONDO:0006255
name: intimal sarcoma
def: "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." [NCIT:C53677]
synonym: "INTS" RELATED [ONCOTREE:INTS]
xref: EFO:1000305 {source="MONDO:equivalentTo"}
xref: NCIT:C53677 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000305"}
xref: ONCOTREE:INTS {source="MONDO:equivalentTo"}
xref: UMLS:C1708550 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C53677"}
is_a: MONDO:0002927 {source="NCIT:C53677"} ! spindle cell sarcoma
is_a: MONDO:0018078 {source="NCIT:C53677"} ! soft tissue sarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708550
property_value: exactMatch NCIT:C53677

[Term]
id: MONDO:0006256
name: invasive breast carcinoma
def: "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCIT:C9245]
synonym: "BRCA" RELATED [ONCOTREE:BRCA]
synonym: "infiltrating breast cancer" EXACT [NCIT:C9245]
synonym: "infiltrating breast carcinoma" EXACT [NCIT:C9245]
synonym: "infiltrating carcinoma of breast" EXACT [NCIT:C9245]
synonym: "infiltrating carcinoma of the breast" EXACT [NCIT:C9245]
synonym: "invasive breast cancer" EXACT [NCIT:C9245]
synonym: "invasive breast carcinoma" EXACT [NCIT:C9245]
synonym: "invasive carcinoma of breast" EXACT [NCIT:C9245]
synonym: "invasive carcinoma of the breast" EXACT [NCIT:C9245]
synonym: "invasive mammary carcinoma" EXACT [NCIT:C9245]
xref: EFO:1000307 {source="MONDO:equivalentTo"}
xref: NCIT:C9245 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000307"}
xref: ONCOTREE:BRCA {source="MONDO:equivalentTo"}
xref: SCTID:713609000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:C0853879 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9245", source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="EFO:1000307", source="MONDO:Redundant", source="MONDOLEX:0006256", source="NCIT:C9245", source="linkedlifedata"} ! breast carcinoma
is_a: MONDO:0040677 ! invasive carcinoma
property_value: exactMatch http://identifiers.org/snomedct/713609000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853879
property_value: exactMatch NCIT:C9245

[Term]
id: MONDO:0006257
name: jejunal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6429]
synonym: "carcinoid tumor of jejunum" EXACT [NCIT:C6429]
synonym: "carcinoid tumor of the jejunum" EXACT [NCIT:C6429]
synonym: "grade 1 neuroendocrine neoplasm of jejunum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunal carcinoid tumor" EXACT [NCIT:C6429]
synonym: "jejunal NET G1" EXACT [NCIT:C6429]
synonym: "jejunum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunum carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "jejunum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunum neuroendocrine neoplasm G1" EXACT []
synonym: "jejunum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000308 {source="MONDO:equivalentTo"}
xref: NCIT:C6429 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000308"}
xref: UMLS:C1334296 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6429"}
is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C6429"} ! small intestinal neuroendocrine tumor G1
is_a: MONDO:0006155 ! colon neuroendocrine tumor G1
is_a: MONDO:0015064 ! jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334296
property_value: exactMatch NCIT:C6429

[Term]
id: MONDO:0006258
name: juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:C3826]
synonym: "juvenile polyp" EXACT [NCIT:C3826]
synonym: "retention polyp" EXACT [NCIT:C3826]
xref: EFO:1000310 {source="MONDO:equivalentTo"}
xref: NCIT:C3826 {source="MONDO:equivalentTo", source="EFO:1000310", source="exact-label-match"}
xref: UMLS:C0221273 {source="NCIT:C3826", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006231 {source="NCIT:C3826"} ! gastrointestinal hamartoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221273
property_value: exactMatch NCIT:C3826

[Term]
id: MONDO:0006259
name: obsolete juvenile xanthogranuloma
is_obsolete: true
replaced_by: MONDO:0015534

[Term]
id: MONDO:0006260
name: kidney medullary carcinoma
alt_id: MONDO:0017888
def: "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." [NCIT:C7572]
subset: ordo_disease {source="Orphanet:319319"}
synonym: "carcinoma of renal medulla" EXACT [MONDO:patterns/carcinoma]
synonym: "kidney medullary carcinoma" EXACT [NCIT:C7572]
synonym: "renal medulla carcinoma" EXACT []
synonym: "renal medullary carcinoma" EXACT [NCIT:C7572]
xref: EFO:1000314 {source="MONDO:equivalentTo"}
xref: GARD:0013175 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C64 {source="Orphanet:319319", source="ORDO:319319/ntbt"}
xref: MedDRA:10064886 {source="ORDO:319319/e", source="Orphanet:319319"}
xref: NCIT:C7572 {source="MONDO:equivalentTo", source="EFO:1000314"}
xref: ONCOTREE:MRC {source="MONDO:equivalentTo"}
xref: Orphanet:319319 {source="MONDO:equivalentTo"}
xref: UMLS:CN203938 {source="MONDO:equivalentTo"}
is_a: MONDO:0005086 {source="ONCOTREE:MRC/inferred", source="Orphanet:319319"} ! renal cell carcinoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4049328
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL448379
property_value: exactMatch http://identifiers.org/meddra/10064886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203938
property_value: exactMatch NCIT:C7572
property_value: exactMatch Orphanet:319319

[Term]
id: MONDO:0006262
name: lacrimal gland adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "adenoid cystic carcinoma of lacrimal gland" EXACT [DOID:4870, NCIT:C4540]
synonym: "adenoid cystic carcinoma of the lacrimal gland" EXACT [NCIT:C4540]
synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C4540]
xref: DOID:4870 {source="MONDO:equivalentTo"}
xref: EFO:1000317 {source="MONDO:equivalentTo"}
xref: NCIT:C4540 {source="DOID:4870", source="MONDO:equivalentTo", source="EFO:1000317", source="exact-label-match"}
xref: SCTID:254987003 {source="DOID:4870", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346340 {source="DOID:4870", source="NCIT:C4540", source="MONDO:equivalentTo"}
is_a: MONDO:0002475 {source="DOID:4870", source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal gland adenocarcinoma
is_a: MONDO:0004971 {source="EFO:1000317", source="MONDO:Redundant", source="MONDOLEX:0006262", source="NCIT:C4540"} ! adenoid cystic carcinoma
property_value: exactMatch DOID:4870
property_value: exactMatch http://identifiers.org/snomedct/254987003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346340
property_value: exactMatch NCIT:C4540

[Term]
id: MONDO:0006263
name: obsolete Langerhans cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0018310

[Term]
id: MONDO:0006264
name: laryngeal adenoid cystic carcinoma
def: "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." [NCIT:C9462]
synonym: "adenoid cystic carcinoma of larynx" EXACT [DOID:4869, NCIT:C9462]
synonym: "adenoid cystic carcinoma of the larynx" EXACT [NCIT:C9462]
synonym: "laryngeal adenoid cystic carcinoma" EXACT [NCIT:C9462]
synonym: "laryngeal throat adenoid cystic cancer" EXACT [NCIT:C9462]
xref: DOID:4869 {source="MONDO:equivalentTo"}
xref: EFO:1000319 {source="MONDO:equivalentTo"}
xref: NCIT:C9462 {source="MONDO:equivalentTo", source="DOID:4869", source="exact-label-match", source="EFO:1000319"}
xref: UMLS:C1334368 {source="MONDO:equivalentTo", source="DOID:4869", source="NCIT:C9462"}
is_a: MONDO:0002358 {source="DOID:4869", source="MONDO:Redundant", source="MONDOLEX:0006264", source="NCIT:C9462"} ! laryngeal carcinoma
is_a: MONDO:0004971 {source="EFO:1000319", source="MONDO:Redundant", source="MONDOLEX:0006264", source="NCIT:C9462"} ! adenoid cystic carcinoma
property_value: exactMatch DOID:4869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334368
property_value: exactMatch NCIT:C9462

[Term]
id: MONDO:0006265
name: laryngeal small cell carcinoma
def: "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." [NCIT:C6025]
synonym: "laryngeal small cell carcinoma" EXACT [NCIT:C6025]
synonym: "laryngeal throat small cell cancer" EXACT [NCIT:C6025]
synonym: "larynx small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6025]
synonym: "small cell carcinoma of larynx" EXACT [DOID:7144, NCIT:C6025]
synonym: "small cell carcinoma of the larynx" EXACT [NCIT:C6025]
xref: DOID:7144 {source="MONDO:equivalentTo"}
xref: EFO:1000320 {source="MONDO:equivalentTo"}
xref: NCIT:C6025 {source="EFO:1000320", source="MONDO:equivalentTo", source="DOID:7144", source="exact-label-match"}
xref: UMLS:C1334378 {source="NCIT:C6025", source="MONDO:equivalentTo", source="DOID:7144"}
is_a: MONDO:0000402 {source="DOID:7144", source="MONDO:Redundant", source="MONDOLEX:0006265", source="NCIT:C6025"} ! small cell carcinoma
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6025/inferred"} ! head and neck carcinoma
is_a: MONDO:0002358 {source="DOID:7144", source="MONDO:Redundant", source="MONDOLEX:0006265", source="NCIT:C6025"} ! laryngeal carcinoma
is_a: MONDO:0015070 {source="MONDO:Redundant", source="NCIT:C6025", source="OWLReasoner:2017"} ! laryngeal neuroendocrine neoplasm
property_value: exactMatch DOID:7144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334378
property_value: exactMatch NCIT:C6025

[Term]
id: MONDO:0006266
name: Leydig cell tumor
def: "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." [NCIT:C3188]
comment: Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor
synonym: "interstitial cell neoplasm" EXACT [NCIT:C3188]
synonym: "interstitial cell neoplasm" RELATED [NCIT:C3188]
synonym: "interstitial cell tumor" EXACT [NCIT:C3188]
synonym: "Leydig cell neoplasm" EXACT [DOID:2696, NCIT:C3188]
synonym: "Leydig cell tumor" EXACT [NCIT:C3188]
synonym: "Leydig cell tumor, undetermined" RELATED [NCIT:C3188]
xref: DOID:2696 {source="MONDO:equivalentTo"}
xref: EFO:1000321 {source="MONDO:equivalentTo"}
xref: ICDO:8650/1 {source="NCIT:C3188"}
xref: MESH:D007984 {source="DOID:2696", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3188 {source="DOID:2696", source="MONDO:equivalentTo", source="EFO:1000321", source="NCIT:C3188", source="exact-label-match"}
xref: UMLS:C0023601 {source="DOID:2696", source="MONDO:equivalentTo", source="NCIT:C3188"}
is_a: MONDO:0006055 {source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor
property_value: closeMatch http://identifiers.org/snomedct/189739005
property_value: closeMatch http://identifiers.org/snomedct/45002009
property_value: exactMatch DOID:2696
property_value: exactMatch http://identifiers.org/mesh/D007984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023601
property_value: exactMatch NCIT:C3188

[Term]
id: MONDO:0006267
name: liver cavernous hemangioma
def: "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." [NCIT:C96839]
synonym: "cavernous hemangioma of liver" EXACT [MONDO:design_pattern]
synonym: "liver cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C96839]
xref: EFO:1000322 {source="MONDO:equivalentTo"}
xref: NCIT:C96839 {source="DesignPattern", source="EFO:1000322", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C3282904 {source="MONDO:equivalentTo", source="NCIT:C96839"}
is_a: MONDO:0002404 {source="MONDO:Redundant", source="NCIT:C96839"} ! liver hemangioma
is_a: MONDO:0003155 {source="MONDO:Redundant", source="MONDOLEX:0006267", source="NCIT:C96839"} ! cavernous hemangioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3282904
property_value: exactMatch NCIT:C96839

[Term]
id: MONDO:0006268
name: liver diffuse large B-cell lymphoma
def: "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." [NCIT:C96843]
synonym: "diffuse large B-cell lymphoma of liver" EXACT [MONDO:design_pattern]
synonym: "hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
synonym: "liver diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C96843]
synonym: "primary hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
synonym: "primary liver diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
xref: EFO:1000323 {source="MONDO:equivalentTo"}
xref: NCIT:C96843 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000323", source="exact-label-match"}
xref: UMLS:C2184126 {source="NCIT:C96843", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0004695 {source="MONDO:Redundant", source="NCIT:C96843/inferred"} ! liver lymphoma
is_a: MONDO:0007256 {source="EFO:1000323"} ! hepatocellular carcinoma
is_a: MONDO:0018905 {source="EFO:1000323", source="MONDO:Redundant", source="NCIT:C96843"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2184126
property_value: exactMatch NCIT:C96843

[Term]
id: MONDO:0006269
name: obsolete liver inflammatory myofibroblastic tumor
is_obsolete: true
replaced_by: MONDO:0004726

[Term]
id: MONDO:0006270
name: lobular breast carcinoma in situ
def: "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." [NCIT:C4018]
synonym: "breast lobular carcinoma in situ" RELATED [ONCOTREE:LCIS]
synonym: "LCIS" EXACT [NCIT:C4018]
synonym: "lobular breast carcinoma in situ" EXACT [NCIT:C4018]
synonym: "lobular Ca in situ of breast" EXACT [NCIT:C4018]
synonym: "lobular Ca in situ of the breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ (LCIS)" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of the breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of the breast (LCIS)" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4018]
synonym: "non-invasive lobular breast carcinoma" EXACT [NCIT:C4018]
synonym: "non-invasive lobular carcinoma of breast" EXACT [NCIT:C4018]
synonym: "non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4018]
xref: EFO:1000326 {source="MONDO:equivalentTo"}
xref: ICDO:8520/2 {source="NCIT:C4018"}
xref: NCIT:C4018 {source="MONDO:equivalentTo", source="EFO:1000326"}
xref: ONCOTREE:LCIS {source="MONDO:equivalentTo"}
xref: SCTID:109888004 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0279563 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4018"}
xref: UMLS:C0334381 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002486 {source="NCIT:C4018"} ! lobular neoplasia
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! adenocarcinoma in situ
is_a: MONDO:0004988 {source="EFO:1000326", source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! breast adenocarcinoma
property_value: exactMatch http://identifiers.org/snomedct/109888004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334381
property_value: exactMatch NCIT:C4018

[Term]
id: MONDO:0006271
name: low grade central osteosarcoma
def: "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." [NCIT:C6474]
synonym: "intraosseous well-differentiated osteogenic sarcoma" EXACT [NCIT:C6474]
synonym: "intraosseous well-differentiated osteosarcoma" EXACT [NCIT:C6474]
synonym: "low grade central osteosarcoma" EXACT [NCIT:C6474]
synonym: "low grade intramedullary osteosarcoma" EXACT [NCIT:C6474]
synonym: "low-grade central osteosarcoma" RELATED [ONCOTREE:LGCOS]
synonym: "low-grade intramedullary osteosarcoma" EXACT [NCIT:C6474]
xref: EFO:1000327 {source="MONDO:equivalentTo"}
xref: ICDO:9187/3 {source="NCIT:C6474"}
xref: NCIT:C6474 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000327"}
xref: ONCOTREE:LGCOS {source="MONDO:equivalentTo"}
xref: UMLS:C1266163 {source="NCIT:C6474", source="MONDO:equivalentTo"}
xref: UMLS:C3814534 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009807 {source="EFO:1000327", source="MONDO:Redundant", source="MONDOLEX:0006271", source="NCIT:C6474/inferred", source="ONCOTREE:LGCOS"} ! osteosarcoma (disease)
intersection_of: MONDO:0009807 ! osteosarcoma (disease)
intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266163
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3814534
property_value: exactMatch NCIT:C6474

[Term]
id: MONDO:0006272
name: low grade fibromyxoid sarcoma
def: "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." [NCIT:C45202]
synonym: "low grade fibromyxoid sarcoma" EXACT [NCIT:C45202]
synonym: "low-grade fibromyxoid sarcoma" RELATED [ONCOTREE:LGFMS]
xref: EFO:1000328 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45202 {source="MONDO:equivalentTo", source="EFO:1000328", source="exact-label-match"}
xref: ONCOTREE:LGFMS {source="MONDO:equivalentTo"}
xref: SCTID:404088004 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C1275282 {source="MONDO:equivalentTo", source="NCIT:C45202"}
is_a: MONDO:0005164 {source="EFO:1000328", source="MONDO:Redundant", source="NCIT:C45202/inferred"} ! fibrosarcoma (disease)
intersection_of: MONDO:0005164 ! fibrosarcoma (disease)
intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: exactMatch http://identifiers.org/snomedct/404088004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275282
property_value: exactMatch NCIT:C45202

[Term]
id: MONDO:0006273
name: low grade fibromyxoid sarcoma with giant collagen rosettes
def: "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." [NCIT:P378]
synonym: "hyalinizing spindle cell tumor with giant Rosettes" EXACT [NCIT:C45203]
xref: EFO:1000329 {source="MONDO:equivalentTo"}
xref: NCIT:C45203 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000329"}
xref: UMLS:C1708749 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45203"}
is_a: MONDO:0006272 {source="NCIT:C45203"} ! low grade fibromyxoid sarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708749
property_value: exactMatch NCIT:C45203

[Term]
id: MONDO:0006274
name: low grade vulvar intraepithelial neoplasia
def: "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" [NCIT:P378]
synonym: "grade 1 VIN" EXACT [NCIT:C4760]
synonym: "grade 1 vulvar intraepithelial neoplasia" EXACT [NCIT:C4760]
synonym: "grade I VIN" EXACT [NCIT:C4760]
synonym: "grade I vulvar intraepithelial neoplasia" EXACT [NCIT:C4760]
synonym: "intraepithelial neoplasia of the vulva grade 1" EXACT [NCIT:C4760]
synonym: "intraepithelial neoplasia of vulva grade 1" EXACT [NCIT:C4760]
synonym: "low grade VIN" EXACT [NCIT:C4760]
synonym: "VIN 1" EXACT [NCIT:C4760]
synonym: "VIN 1 of usual type" EXACT [NCIT:C4760]
synonym: "VIN grade 1" EXACT [NCIT:C4760]
synonym: "vulva intraepithelial neoplasia grade 1" EXACT [NCIT:C4760]
synonym: "vulvar flat condyloma" EXACT [NCIT:C4760]
synonym: "vulvar intraepithelial neoplasia 1 of usual type" EXACT [NCIT:C4760]
synonym: "vulvar intraepithelial neoplasia grade 1" EXACT [NCIT:C4760]
synonym: "vulvar Low grade squamous intraepithelial lesion" EXACT [NCIT:C4760]
synonym: "vulvar Low-grade squamous intraepithelial lesion" EXACT [NCIT:C4760]
synonym: "vulvar mild squamous dysplasia" EXACT [NCIT:C4760]
xref: EFO:1000330 {source="MONDO:equivalentTo"}
xref: NCIT:C4760 {source="EFO:1000330", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0495106 {source="NCIT:C4760", source="MONDO:equivalentTo"}
is_a: MONDO:0005198 {source="EFO:1000330", source="MONDO:Entailed", source="MONDO:Redundant"} ! vulvar intraepithelial neoplasia
intersection_of: MONDO:0005198 ! vulvar intraepithelial neoplasia
intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0495106
property_value: exactMatch NCIT:C4760

[Term]
id: MONDO:0006275
name: lung giant cell carcinoma
def: "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." [NCIT:P378]
synonym: "GCLC" RELATED [ONCOTREE:GCLC]
synonym: "giant cell carcinoma" EXACT [DOID:5583, NCIT:C3779]
synonym: "giant cell carcinoma of lung" EXACT [NCIT:C4452]
synonym: "giant cell carcinoma of the lung" EXACT [NCIT:C4452]
synonym: "giant cell lung carcinoma" EXACT [DOID:5583, NCIT:C4452]
synonym: "lung giant cell carcinoma" EXACT [NCIT:C4452]
xref: DOID:5583 {source="MONDO:equivalentTo"}
xref: EFO:1000332 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018286 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5583"}
xref: NCIT:C4452 {source="MONDO:kboom-pr-0.91/0.79/0.32", source="MONDO:equivalentTo", source="EFO:1000332", source="DOID:5583"}
xref: ONCOTREE:GCLC {source="MONDO:equivalentTo"}
xref: SCTID:254631008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:5583"}
xref: UMLS:C0206703 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:5583"}
xref: UMLS:C0345960 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4452", source="MONDO:equivalentTo", source="DOID:5583"}
is_a: MONDO:0006279 {source="NCIT:C4452"} ! lung sarcomatoid carcinoma
property_value: closeMatch http://identifiers.org/snomedct/42596004
property_value: closeMatch NCIT:C3779
property_value: exactMatch DOID:5583
property_value: exactMatch http://identifiers.org/mesh/D018286
property_value: exactMatch http://identifiers.org/snomedct/254631008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345960
property_value: exactMatch NCIT:C4452

[Term]
id: MONDO:0006276
name: lung inflammatory myofibroblastic tumor
def: "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39740]
synonym: "inflammatory myofibroblastic lung tumor" RELATED [ONCOTREE:IMTL]
synonym: "lung inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C39740]
xref: EFO:1000333 {source="MONDO:equivalentTo"}
xref: ICDO:8827/1 {source="NCIT:C39740"}
xref: NCIT:C39740 {source="EFO:1000333", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:IMTL {source="MONDO:equivalentTo"}
xref: UMLS:C1518038 {source="NCIT:C39740", source="MONDO:equivalentTo"}
is_a: MONDO:0005138 {source="EFO:1000333"} ! lung carcinoma
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39740"} ! inflammatory myofibroblastic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518038
property_value: exactMatch NCIT:C39740

[Term]
id: MONDO:0006277
name: lung lymphangioleiomyomatosis
def: "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." [NCIT:C38153]
synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153]
synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153]
synonym: "lymphangioleiomyomatosis" RELATED [DOID:3319]
synonym: "lymphangiomyomatosis" EXACT EXCLUDE [DOID:3319]
synonym: "pulmonary lymphangioleiomyomatosis" EXACT []
synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM]
xref: COHD:4174275 {source="MONDO:equivalentTo"}
xref: DOID:3319 {source="MONDO:equivalentTo"}
xref: EFO:1000334 {source="MONDO:equivalentTo"}
xref: GARD:0003319 {source="MONDO:equivalentTo"}
xref: ICD10:D48.7 {source="Orphanet:538", source="ORDO:538/attributed", source="ORDO:538/ntbt"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049459 {source="ORDO:538/e", source="Orphanet:538"}
xref: MESH:D018192 {source="ORDO:538/e", source="MONDO:equivalentTo", source="Orphanet:538", source="MONDO:ontobio"}
xref: NCIT:C38153 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.78/0.66", source="EFO:1000334"}
xref: OMIM:606690 {source="ORDO:538/e", source="MONDO:equivalentTo", source="Orphanet:538"}
xref: ONCOTREE:LAM {source="MONDO:equivalentTo"}
xref: Orphanet:538 {source="MONDO:equivalentTo", source="OMIM:606690"}
xref: SCTID:277844007 {source="MONDO:equivalentTo", source="DOID:3319", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005138 {source="EFO:1000334"} ! lung carcinoma
is_a: MONDO:0011705 {source="MONDO:Redundant", source="NCIT:C38153"} ! lymphangioleiomyomatosis
is_a: MONDO:0017027 {source="Orphanet:538"} ! primary interstitial lung disease specific to adulthood
is_a: MONDO:0020588 ! lung PEComa
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349649
property_value: exactMatch DOID:3319
property_value: exactMatch http://identifiers.org/meddra/10049459
property_value: exactMatch http://identifiers.org/mesh/D018192
property_value: exactMatch http://identifiers.org/omim/606690
property_value: exactMatch http://identifiers.org/snomedct/277844007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751674
property_value: exactMatch NCIT:C38153
property_value: exactMatch Orphanet:538

[Term]
id: MONDO:0006278
name: lung papilloma
def: "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." [NCIT:C8295]
synonym: "lung papilloma" EXACT [MONDO:patterns/location, NCIT:C8295]
synonym: "papilloma of respiratory tract" EXACT [NCIT:C8295]
synonym: "papilloma of the respiratory tract" EXACT [NCIT:C8295]
synonym: "respiratory tract papilloma" EXACT [NCIT:C8295]
xref: EFO:1000335 {source="MONDO:equivalentTo"}
xref: NCIT:C8295 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000335", source="exact-label-match"}
xref: UMLS:C0281373 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C8295"} ! papilloma
is_a: MONDO:0002732 ! lung benign neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281373
property_value: exactMatch NCIT:C8295

[Term]
id: MONDO:0006279
name: lung sarcomatoid carcinoma
def: "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." [NCIT:C45540]
synonym: "lung sarcomatoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45540]
synonym: "sarcomatoid carcinoma of the lung" RELATED [ONCOTREE:SARCL]
xref: EFO:1000336 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45540 {source="MONDO:equivalentTo", source="EFO:1000336", source="exact-label-match"}
xref: ONCOTREE:SARCL {source="MONDO:equivalentTo"}
xref: SCTID:707460002 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0003050 ! lung large cell carcinoma
is_a: MONDO:0006406 {source="MONDO:Redundant", source="MONDOLEX:0006279", source="NCIT:C45540"} ! sarcomatoid carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708781
property_value: exactMatch http://identifiers.org/snomedct/707460002
property_value: exactMatch NCIT:C45540

[Term]
id: MONDO:0006280
name: lung sclerosing hemangioma
alt_id: MONDO:0006934
def: "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." [NCIT:C5656]
comment: Editor note: we beieve the 3 DO classes are equivalent
synonym: "lung sclerosing angioma" EXACT [NCIT:C5656]
synonym: "lung sclerosing hemangioma" EXACT [NCIT:C5656]
synonym: "Pneumocytoma" EXACT [DOID:5766, NCIT:C5656]
synonym: "pulmonary sclerosing hemangioma" RELATED [DOID:5766]
synonym: "sclerosing angioma of lung" EXACT [NCIT:C5656]
synonym: "sclerosing angioma of the lung" EXACT [NCIT:C5656]
synonym: "sclerosing haemangioma" EXACT [DOID:495]
synonym: "sclerosing hemangioma" EXACT [DOID:495]
synonym: "sclerosing hemangioma of lung" EXACT [NCIT:C5656]
synonym: "sclerosing hemangioma of the lung" EXACT [NCIT:C5656]
synonym: "sclerosing Pneumocytoma" EXACT [NCIT:C5656]
xref: DOID:495 {source="MONDO:equivalentTo"}
xref: DOID:5766 {source="EFO:1001136", source="MONDO:equivalentTo"}
xref: EFO:1000337 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D047868 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"}
xref: NCIT:C5656 {source="DOID:5766", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20", source="EFO:1000337"}
xref: SCTID:707365008 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"}
xref: UMLS:C1509148 {source="MONDO:equivalentTo", source="DOID:495"}
is_a: MONDO:0003194 {source="DOID:5766", source="MONDO:Redundant", source="MONDOLEX:0006280"} ! hemangioma of lung
relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1000337"} ! lung carcinoma
property_value: closeMatch http://identifiers.org/snomedct/134302009
property_value: closeMatch http://identifiers.org/snomedct/72079004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334455
property_value: exactMatch DOID:495
property_value: exactMatch DOID:5766
property_value: exactMatch http://identifiers.org/mesh/D047868
property_value: exactMatch http://identifiers.org/snomedct/707365008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1509148
property_value: exactMatch NCIT:C5656

[Term]
id: MONDO:0006281
name: lung signet ring cell carcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." [NCIT:C45514]
synonym: "lung signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "signet ring lung adenocarcinoma" RELATED [DOID:0080305]
xref: DOID:0080305 {source="MONDO:equivalentTo"}
xref: EFO:1000338 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45514 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000338"}
xref: SCTID:707407001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0005061 {source="DOID:0080305", source="EFO:1000338", source="MONDO:Redundant", source="MONDOLEX:0006281"} ! lung adenocarcinoma
is_a: MONDO:0005092 {source="EFO:1000338", source="MONDO:Redundant", source="MONDOLEX:0006281"} ! signet ring cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708782
property_value: exactMatch DOID:0080305
property_value: exactMatch http://identifiers.org/snomedct/707407001
property_value: exactMatch NCIT:C45514

[Term]
id: MONDO:0006282
name: lymphangiosarcoma
def: "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." [NCIT:C3205]
synonym: "lymphangioendothelial sarcoma" EXACT [NCIT:C3205]
synonym: "lymphangiosarcoma" EXACT [NCIT:C3205]
synonym: "lymphangiosarcoma of Stewart and Treves" EXACT [DOID:2689, NCIT:C4490]
synonym: "lymphangiosarcoma, malignant" EXACT [NCIT:C3205]
synonym: "malignant lymphangioendothelioma" EXACT [DOID:2689, NCIT:C3205]
synonym: "skin lymphangiosarcoma" EXACT EXCLUDE [DOID:2689]
synonym: "Stewart-Treves syndrome" EXACT [DOID:2689]
xref: DOID:2689 {source="MONDO:equivalentTo"}
xref: EFO:1000339 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9170/3 {source="NCIT:C3205"}
xref: MESH:D008204 {source="MONDO:equivalentTo", source="DOID:2689", source="MONDO:ontobio"}
xref: NCIT:C3205 {source="MONDO:equivalentTo", source="DOID:2689", source="EFO:1000339"}
xref: SCTID:403986008 {source="MONDO:kboom-pr-0.84/0.67/0.09", source="MONDO:equivalentTo", source="DOID:2689"}
xref: UMLS:C0024224 {source="MONDO:equivalentTo", source="DOID:2689", source="NCIT:C3205"}
is_a: MONDO:0004993 ! carcinoma
is_a: MONDO:0005089 {source="EFO:1000339", source="MESH:D008204", source="MONDO:Redundant", source="linkedlifedata"} ! sarcoma
property_value: closeMatch http://identifiers.org/mesh/C537491
property_value: closeMatch http://identifiers.org/snomedct/63373002
property_value: exactMatch DOID:2689
property_value: exactMatch http://identifiers.org/mesh/D008204
property_value: exactMatch http://identifiers.org/snomedct/403986008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024224
property_value: exactMatch NCIT:C3205

[Term]
id: MONDO:0006283
name: lymphoepithelioma-like lung carcinoma
def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." [NCIT:C45519]
synonym: "lymphoepithelioma-like carcinoma of the lung" RELATED [ONCOTREE:LECLC]
xref: EFO:1000340 {source="MONDO:equivalentTo"}
xref: NCIT:C45519 {source="EFO:1000340", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LECLC {source="MONDO:equivalentTo"}
xref: UMLS:C1708792 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C45519", source="MONDO:equivalentTo"}
is_a: MONDO:0003050 {source="EFO:1000340", source="NCIT:C45519", source="ONCOTREE:LECLC"} ! lung large cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708792
property_value: exactMatch NCIT:C45519

[Term]
id: MONDO:0006284
name: major salivary gland carcinoma
def: "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." [NCIT:C5907]
synonym: "carcinoma of Major salivary gland" EXACT [NCIT:C5907]
synonym: "carcinoma of major salivary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Major salivary gland" EXACT [NCIT:C5907]
synonym: "major salivary gland cancer" EXACT [NCIT:C5907]
synonym: "major salivary gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C5907]
xref: EFO:1000344 {source="MONDO:equivalentTo"}
xref: NCIT:C5907 {source="EFO:1000344", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334549 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5907", source="MONDO:equivalentTo"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0006284", source="NCIT:C5907"} ! salivary gland carcinoma
is_a: MONDO:0044743 ! major salivary gland cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334549
property_value: exactMatch NCIT:C5907

[Term]
id: MONDO:0006285
name: major salivary gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5975]
synonym: "carcinoma ex pleomorphic adenoma of Major salivary gland" EXACT [NCIT:C5975]
synonym: "carcinoma ex pleomorphic adenoma of the Major salivary gland" EXACT [NCIT:C5975]
synonym: "major salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5975]
synonym: "major salivary gland salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000345 {source="MONDO:equivalentTo"}
xref: NCIT:C5975 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000345", source="exact-label-match"}
xref: UMLS:C1334550 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5975"}
is_a: MONDO:0006284 {source="MONDO:Redundant", source="MONDOLEX:0006285", source="NCIT:C5975"} ! major salivary gland carcinoma
is_a: MONDO:0006403 {source="MONDO:Redundant", source="MONDOLEX:0006285", source="NCIT:C5975"} ! salivary gland carcinoma ex pleomorphic adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334550
property_value: exactMatch NCIT:C5975

[Term]
id: MONDO:0006286
name: major salivary gland mucoepidermoid carcinoma
def: "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5906]
synonym: "major salivary gland mucoepidermoid cancer" EXACT [NCIT:C5906]
synonym: "major salivary gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5906]
synonym: "mucoepidermoid carcinoma of Major salivary gland" EXACT [NCIT:C5906]
synonym: "mucoepidermoid carcinoma of the Major salivary gland" EXACT [NCIT:C5906]
xref: EFO:1000346 {source="MONDO:equivalentTo"}
xref: NCIT:C5906 {source="MONDO:equivalentTo", source="EFO:1000346", source="exact-label-match"}
xref: UMLS:C1334551 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5906", source="MONDO:equivalentTo"}
is_a: MONDO:0006284 {source="MONDO:Redundant", source="MONDOLEX:0006286", source="NCIT:C5906"} ! major salivary gland carcinoma
is_a: MONDO:0021009 {source="MONDO:Redundant", source="MONDOLEX:0006286", source="NCIT:C5906"} ! salivary gland mucoepidermoid carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334551
property_value: exactMatch NCIT:C5906

[Term]
id: MONDO:0006287
name: malignancy in giant cell tumor of bone
def: "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." [NCIT:C4304]
synonym: "bone giant cell sarcoma" EXACT [MONDO:0003114]
synonym: "Dedifferentiated giant cell tumor" EXACT [NCIT:C4304]
synonym: "giant cell bone sarcoma" EXACT [NCIT:C4304]
synonym: "giant cell sarcoma of bone" EXACT [NCIT:C4304]
synonym: "giant cell sarcoma of the bone" EXACT [DOID:4719, NCIT:C4304]
synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719]
synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [DOID:4719]
synonym: "malignancy in giant cell tumor of bone" EXACT [NCIT:C4304]
synonym: "malignancy in giant cell tumor of the bone" EXACT [NCIT:C4304]
synonym: "malignant giant cell tumor of bone" EXACT [NCIT:C4304]
synonym: "OSTEOCLASTOMA, malignant" EXACT [NCIT:C4304]
xref: DOID:4719 {source="MONDO:equivalentTo"}
xref: EFO:1000347 {source="MONDO:equivalentTo"}
xref: ICDO:9250/3 {source="NCIT:C4304"}
xref: NCIT:C4304 {source="MONDO:equivalentTo", source="EFO:1000347", source="DOID:4719"}
xref: UMLS:C0334552 {source="MONDO:equivalentTo", source="NCIT:C4304", source="DOID:4719"}
is_a: MONDO:0002402 {source="DOID:4719", source="MONDOLEX:0006287", source="NCIT:C4304/inferred"} ! malignant giant cell tumor
is_a: MONDO:0021054 {source="MONDOLEX:0006287", source="NCIT:C4304"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/10069009
property_value: exactMatch DOID:4719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334552
property_value: exactMatch NCIT:C4304

[Term]
id: MONDO:0006288
name: malignant adrenal gland pheochromocytoma
def: "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." [NCIT:C4220]
synonym: "adrenal gland pheochromocytoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant adrenal gland chromaffin neoplasm" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland chromaffin paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland chromaffin tumor" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland Chromaffinoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal medullary paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal medullary pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant pheochromocytoma" EXACT [NCIT:C4220]
synonym: "pheochromoblastoma" EXACT [NCIT:C4220]
synonym: "pheochromocytoma, malignant" EXACT [NCIT:C4220]
xref: DOID:0080347 {source="MONDO:equivalentTo"}
xref: EFO:1000348 {source="MONDO:equivalentTo"}
xref: ICDO:8700/3 {source="NCIT:C4220"}
xref: NCIT:C4220 {source="MONDO:equivalentTo", source="EFO:1000348", source="exact-label-match"}
xref: SCTID:21851000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C0334419 {source="NCIT:C4220", source="MONDO:equivalentTo"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0004202 ! adrenal medulla carcinoma
is_a: MONDO:0004974 {source="EFO:1000348", source="MONDO:Redundant", source="MONDOLEX:0006288", source="NCIT:C4220"} ! adrenal gland pheochromocytoma
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch DOID:0080347
property_value: exactMatch http://identifiers.org/snomedct/21851000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334419
property_value: exactMatch NCIT:C4220

[Term]
id: MONDO:0006289
name: obsolete malignant epitheloid mesothelioma
xref: EFO:1000351 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0006290
name: malignant germ cell tumor
def: "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." [NCIT:C4925]
subset: gard_rare
synonym: "cancer of germ cell" EXACT [MONDO:patterns/cancer]
synonym: "germ cell cancer" EXACT [MONDO:patterns/location]
synonym: "germ cell cancer, NOS" RELATED EXCLUDE [NCIT:C4925]
synonym: "germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant germ cell neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4925]
synonym: "malignant germ cell tumor" EXACT [NCIT:C4925]
synonym: "malignant neoplasm of germ cell" EXACT [MONDO:patterns/cancer, NCIT:C4925]
synonym: "malignant neoplasm of the germ cell" EXACT [NCIT:C4925]
synonym: "malignant tumor of germ cell" EXACT [NCIT:C4925]
synonym: "malignant tumor of the germ cell" EXACT [NCIT:C4925]
xref: EFO:1000352 {source="MONDO:equivalentTo"}
xref: GARD:0003360 {source="MONDO:equivalentTo"}
xref: NCIT:C4925 {source="EFO:1000352", source="MONDO:equivalentTo"}
xref: SCTID:145831000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C4048549 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0005040 {source="EFO:1000352", source="MONDO:Redundant", source="MONDOLEX:0006290", source="NCIT:C4925"} ! germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740345
property_value: exactMatch http://identifiers.org/snomedct/145831000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048549
property_value: exactMatch NCIT:C4925

[Term]
id: MONDO:0006291
name: malignant jugulotympanic paraganglioma
def: "A jugulotympanic paraganglioma that metastasizes to other anatomic sites." [NCIT:C4623]
synonym: "cancer of jugular body" EXACT [MONDO:patterns/cancer]
synonym: "jugular body cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glomus jugulare neoplasm" EXACT [NCIT:C4623]
synonym: "malignant glomus jugulare tumor" EXACT [NCIT:C4623]
synonym: "malignant jugular body neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant jugulotympanic paraganglioma" EXACT [NCIT:C4623]
synonym: "malignant neoplasm of glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant neoplasm of jugular body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant tumor of glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant tumor of the glomus jugulare" EXACT [NCIT:C4623]
xref: EFO:1000353 {source="MONDO:equivalentTo"}
xref: NCIT:C4623 {source="EFO:1000353", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0347856 {source="MONDO:equivalentTo", source="NCIT:C4623", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0021064 {source="MONDOLEX:0006291", source="NCIT:C4623"} ! jugulotympanic paraganglioma
is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C4623/inferred"} ! malignant endocrine neoplasm
is_a: MONDO:0021089 ! peripheral nervous system cancer
is_a: MONDO:0021310 ! malignant tumor of neck
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347856
property_value: exactMatch NCIT:C4623

[Term]
id: MONDO:0006292
name: malignant mesothelioma (disease)
def: "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." [NCIT:C4456]
subset: ordo_disease {source="Orphanet:50251"}
synonym: "advanced malignant mesothelioma" EXACT [DOID:1790]
synonym: "asbestos-related malignant mesothelioma" EXACT [DOID:1790]
synonym: "diffuse malignant mesothelioma" EXACT [DOID:1790, NCIT:C8420]
synonym: "malignant mesothelial neoplasm" EXACT [NCIT:C4456]
synonym: "malignant mesothelial tumor" EXACT [NCIT:C4456]
synonym: "malignant mesothelioma" EXACT [MONDO:ambiguous, NCIT:C4456]
synonym: "malignant neoplasm of mesothelium" EXACT [NCIT:C4456]
synonym: "malignant neoplasm of the mesothelium" EXACT [NCIT:C4456]
synonym: "malignant tumor of mesothelium" EXACT [DOID:1790, NCIT:C4456]
synonym: "malignant tumor of the mesothelium" EXACT [NCIT:C4456]
synonym: "MESOM" RELATED [MONDO:Lexical, OMIM:156240]
synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignant, NCIT:C4456, OMIM:156240]
synonym: "mesothelioma, malignant; MESOM" RELATED [OMIM:156240]
xref: DOID:1790 {source="MONDO:equivalentTo"}
xref: EFO:1000355 {source="MONDO:equivalentTo"}
xref: GARD:0007026 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100001 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C45.0 {source="ORDO:50251/e", source="Orphanet:50251"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9050/3 {source="NCIT:C4456"}
xref: MedDRA:10027406 {source="ORDO:50251/e", source="Orphanet:50251"}
xref: MESH:C562839 {source="DOID:1790", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4456 {source="DOID:1790", source="EFO:1000355", source="MONDO:equivalentTo"}
xref: OMIM:156240 {source="DOID:1790", source="MONDO:equivalentTo", source="ORDO:50251/e", source="Orphanet:50251"}
xref: Orphanet:50251 {source="OMIM:156240", source="MONDO:equivalentTo"}
xref: SCTID:109378008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.42"}
xref: UMLS:C0278752 {source="DOID:1790", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0345967 {source="DOID:1790", source="MEDGEN:kboom-pr98-c99", source="OMIM:156240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4456"}
xref: UMLS:C1332338 {source="DOID:1790", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 ! respiratory system cancer
is_a: MONDO:0005065 {source="EFO:1000355", source="MESH:C562839", source="MONDO:Redundant", source="NCIT:C4456"} ! mesothelioma
is_a: MONDO:0015119 {source="Orphanet:50251"} ! bronchopulmonary tumor
property_value: closeMatch http://identifiers.org/snomedct/62064005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377913
property_value: exactMatch DOID:1790
property_value: exactMatch http://identifiers.org/meddra/10027406
property_value: exactMatch http://identifiers.org/mesh/C562839
property_value: exactMatch http://identifiers.org/omim/156240
property_value: exactMatch http://identifiers.org/snomedct/109378008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332338
property_value: exactMatch NCIT:C4456
property_value: exactMatch Orphanet:50251

[Term]
id: MONDO:0006293
name: obsolete malignant mixed neoplasm
is_obsolete: true
replaced_by: MONDO:0005853

[Term]
id: MONDO:0006294
name: pleural cancer
def: "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." [NCIT:C3547]
synonym: "cancer of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547]
synonym: "cancer of the pleura" EXACT [NCIT:C3547]
synonym: "malignant neoplasm of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547]
synonym: "malignant neoplasm of the pleura" EXACT [NCIT:C3547]
synonym: "malignant pleura neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pleural neoplasm" EXACT [NCIT:C3547]
synonym: "malignant pleural tumor" EXACT [NCIT:C3547]
synonym: "malignant tumor of pleura" EXACT [NCIT:C3547]
synonym: "malignant tumor of the pleura" EXACT [NCIT:C3547]
synonym: "neoplasm of pleura" BROAD [DOID:5158]
synonym: "pleura cancer" EXACT [MONDO:patterns/location]
synonym: "pleural cancer" EXACT [MONDO:0003309, NCIT:C3547]
synonym: "pleural tumor" BROAD [DOID:5158, NCIT:C3332]
xref: COHD:4180795 {source="MONDO:equivalentTo"}
xref: DOID:5158 {source="MONDO:equivalentTo"}
xref: EFO:1000362 {source="MONDO:equivalentTo"}
xref: ICD10:C38.4 {source="DOID:5158", source="MONDO:equivalentTo"}
xref: ICD9:163 {source="DOID:5158"}
xref: ICD9:163.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:163.9 {source="DOID:5158", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3547 {source="EFO:1000362", source="DOID:5158", source="MONDO:equivalentTo"}
xref: SCTID:363433009 {source="DOID:5158", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"}
xref: UMLS:C0153494 {source="MEDGEN:kboom-pr98-c99", source="DOID:5158", source="MONDO:equivalentTo", source="NCIT:C3547"}
is_a: MONDO:0000376 {source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system cancer
is_a: MONDO:0003274 {source="NCIT:C3547", source="linkedlifedata"} ! thoracic cancer
is_a: MONDO:0021065 {source="MONDO:Redundant", source="MONDOLEX:0006294", source="NCIT:C3547", source="linkedlifedata"} ! pleural neoplasm
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:5158"} ! connective tissue cancer
property_value: closeMatch http://identifiers.org/mesh/D010997
property_value: closeMatch http://identifiers.org/snomedct/187880003
property_value: closeMatch http://identifiers.org/snomedct/93966009
property_value: exactMatch DOID:5158
property_value: exactMatch http://identifiers.org/snomedct/363433009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153494
property_value: exactMatch NCIT:C3547

[Term]
id: MONDO:0006295
name: malignant urinary system neoplasm
def: "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." [NCIT:C9297]
synonym: "cancer of renal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of renal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant renal system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant urinary system neoplasm" EXACT [NCIT:C9297]
synonym: "malignant urinary tract neoplasm" EXACT [NCIT:C9297]
synonym: "renal system cancer" EXACT [MONDO:patterns/location]
synonym: "urinary system cancer" EXACT [MONDO:0002827]
synonym: "urothelial tract/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297]
synonym: "urothelial/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297]
xref: DOID:3996 {source="MONDO:equivalentTo"}
xref: EFO:1000363 {source="MONDO:equivalentTo"}
xref: ICD10:C64.C68 {source="MONDO:equivalentTo"}
xref: ICD10:C68.9 {source="DOID:3996"}
xref: ICD9:189.9 {source="DOID:3996"}
xref: NCIT:C9297 {source="EFO:1000363", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:448233000 {source="MONDO:equivalentTo", source="DOID:3996"}
is_a: MONDO:0004992 {source="DOID:3996", source="DOID:3996/inferred", source="MONDO:Redundant", source="MONDOLEX:0006295", source="linkedlifedata/inferred"} ! cancer
is_a: MONDO:0021066 {source="MONDO:Redundant", source="MONDOLEX:0006295", source="NCIT:C9297", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! urinary system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/190132004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348371
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751571
property_value: exactMatch DOID:3996
property_value: exactMatch http://identifiers.org/snomedct/448233000
property_value: exactMatch NCIT:C9297

[Term]
id: MONDO:0006296
name: obsolete mast cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019024

[Term]
id: MONDO:0006297
name: maxillary sinus adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." [NCIT:C6239]
synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [DOID:7198, NCIT:C6239]
synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [DOID:7198, NCIT:C6239]
synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6239]
xref: DOID:7198 {source="MONDO:equivalentTo"}
xref: EFO:1000365 {source="MONDO:equivalentTo"}
xref: NCIT:C6239 {source="MONDO:equivalentTo", source="EFO:1000365", source="NCIT:C6239", source="DOID:7198"}
xref: UMLS:C1334643 {source="MONDO:equivalentTo", source="NCIT:C6239", source="DOID:7198"}
is_a: MONDO:0001748 {source="DOID:7198", source="MONDO:Redundant", source="NCIT:C6239", source="NCIT:C6239/inferred"} ! maxillary sinus carcinoma
is_a: MONDO:0006352 {source="MONDO:Redundant", source="NCIT:C6239"} ! paranasal sinus adenoid cystic carcinoma
property_value: exactMatch DOID:7198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334643
property_value: exactMatch NCIT:C6239

[Term]
id: MONDO:0006298
name: mediastinal malignant germ cell tumor
def: "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." [NCIT:C6446]
synonym: "malignant germ cell neoplasm of mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell tumor of mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell tumor of the mediastinum" RELATED [NCIT:C6446]
synonym: "malignant mediastinal germ cell neoplasm" RELATED [NCIT:C6446]
synonym: "malignant mediastinal germ cell tumor" EXACT []
synonym: "mediastinal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mediastinal malignant germ cell tumor" EXACT [NCIT:C6446]
synonym: "thymic malignant germ cell tumor" EXACT [NCIT:C6446]
xref: EFO:1000366 {source="MONDO:equivalentTo"}
xref: NCIT:C6446 {source="EFO:1000366", source="MONDO:equivalentTo", source="NCIT:C6446"}
xref: SCTID:713293002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.69"}
xref: UMLS:C1334597 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6446"}
is_a: MONDO:0003113 ! extragonadal germ cell cancer
is_a: MONDO:0005843 {source="MONDO:Redundant", source="NCIT:C6446", source="linkedlifedata"} ! mediastinal cancer
is_a: MONDO:0021067 {source="MONDO:Redundant", source="MONDOLEX:0006298", source="NCIT:C6446"} ! mediastinal germ cell tumor
property_value: exactMatch http://identifiers.org/snomedct/713293002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334597
property_value: exactMatch NCIT:C6446

[Term]
id: MONDO:0006299
name: obsolete mediastinal neuroblastoma
is_obsolete: true
replaced_by: MONDO:0001095

[Term]
id: MONDO:0006300
name: medullomyoblastoma with myogenic differentiation
def: "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." [NCIT:C3706]
synonym: "medullomyoblastoma" EXACT [DOID:3861]
synonym: "medullomyoblastoma with myogenic differentiation" EXACT [NCIT:C3706]
synonym: "MMB" RELATED [ONCOTREE:MMB]
xref: DOID:3861 {source="MONDO:equivalentTo"}
xref: EFO:1000368 {source="MONDO:equivalentTo"}
xref: ICDO:9472/3 {source="NCIT:C3706"}
xref: NCIT:C3706 {source="DOID:3861", source="MONDO:equivalentTo", source="EFO:1000368"}
xref: ONCOTREE:MMB {source="MONDO:equivalentTo"}
xref: UMLS:C0205833 {source="DOID:3861", source="NCIT:C3706", source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="DOID:3861", source="EFO:1000368", source="NCIT:C3706"} ! medulloblastoma
property_value: closeMatch http://identifiers.org/snomedct/24604009
property_value: exactMatch DOID:3861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205833
property_value: exactMatch NCIT:C3706

[Term]
id: MONDO:0006301
name: metanephric adenoma
def: "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." [NCIT:C27253]
synonym: "metanephric adenoma" EXACT [NCIT:C27253]
synonym: "metanephric adenoma (morphologic abnormality)" EXACT [DOID:6404]
xref: DOID:6404 {source="MONDO:equivalentTo"}
xref: EFO:1000373 {source="MONDO:equivalentTo"}
xref: ICDO:8191/0 {source="NCIT:C27253"}
xref: ICDO:8325/0 {source="NCIT:C27253"}
xref: NCIT:C27253 {source="EFO:1000373", source="DOID:6404", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266045 {source="NCIT:C27253", source="DOID:6404", source="MONDO:equivalentTo"}
is_a: MONDO:0002395 {source="DOID:6404", source="NCIT:C27253"} ! renal adenoma
property_value: closeMatch http://identifiers.org/snomedct/128670007
property_value: exactMatch DOID:6404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266045
property_value: exactMatch NCIT:C27253

[Term]
id: MONDO:0006302
name: micropapillary serous carcinoma
def: "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." [NCIT:P378]
xref: EFO:1000377 {source="MONDO:equivalentTo"}
xref: NCIT:C6882 {source="EFO:1000377", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.42"}
is_a: MONDO:0004970 {source="EFO:1000377", source="NCIT:C6882"} ! adenocarcinoma
property_value: exactMatch NCIT:C6882

[Term]
id: MONDO:0006303
name: middle ear squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the middle ear." [NCIT:C6086]
synonym: "epidermoid carcinoma of middle Ear" EXACT [NCIT:C6086]
synonym: "epidermoid carcinoma of the middle Ear" EXACT [NCIT:C6086]
synonym: "epidermoid carcinoma of the middle ear" EXACT [DOID:5526, NCIT:C6086]
synonym: "middle Ear epidermoid carcinoma" EXACT [NCIT:C6086]
synonym: "middle ear squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6086]
synonym: "squamous cell carcinoma of middle Ear" EXACT [NCIT:C6086]
synonym: "squamous cell carcinoma of middle ear" RELATED [DOID:5526]
synonym: "squamous cell carcinoma of the middle Ear" EXACT [NCIT:C6086]
xref: DOID:5526 {source="MONDO:equivalentTo"}
xref: EFO:1000378 {source="MONDO:equivalentTo"}
xref: NCIT:C6086 {source="DOID:5526", source="MONDO:equivalentTo", source="EFO:1000378", source="exact-label-match"}
xref: UMLS:C1334762 {source="NCIT:C6086", source="DOID:5526", source="MONDO:equivalentTo"}
is_a: MONDO:0003190 {source="DOID:5526", source="MONDO:Redundant", source="NCIT:C6086"} ! middle ear carcinoma
is_a: MONDO:0010150 {source="EFO:1000378", source="MONDO:Redundant", source="NCIT:C6086/inferred"} ! head and neck squamous cell carcinoma
property_value: exactMatch DOID:5526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334762
property_value: exactMatch NCIT:C6086

[Term]
id: MONDO:0006304
name: minor salivary gland adenocarcinoma
def: "An adenocarcinoma that arises from the minor salivary glands." [NCIT:C5948]
synonym: "adenocarcinoma of minor salivary gland" EXACT [NCIT:C5948]
synonym: "adenocarcinoma of the minor salivary gland" EXACT [NCIT:C5948]
xref: EFO:1000379 {source="MONDO:equivalentTo"}
xref: NCIT:C5948 {source="MONDO:equivalentTo", source="EFO:1000379", source="exact-label-match"}
xref: UMLS:C1334768 {source="NCIT:C5948", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="EFO:1000379", source="MONDO:Redundant", source="MONDOLEX:0006304", source="NCIT:C5948/inferred"} ! adenocarcinoma
is_a: MONDO:0045069 ! minor salivary gland carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334768
property_value: exactMatch NCIT:C5948

[Term]
id: MONDO:0006305
name: obsolete mixed cell uveal melanoma
is_obsolete: true
replaced_by: MONDO:0003910

[Term]
id: MONDO:0006306
name: mixed lobular and ductal breast carcinoma
def: "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." [NCIT:C5160]
synonym: "breast mixed ductal and lobular carcinoma" RELATED [ONCOTREE:MDLC]
synonym: "ductal and lobular carcinoma" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular breast carcinoma" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular carcinoma of breast" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular carcinoma of the breast" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal breast carcinoma" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma of breast" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma of the breast" EXACT [NCIT:C5160]
xref: EFO:1000382 {source="MONDO:equivalentTo"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5160 {source="EFO:1000382", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MDLC {source="MONDO:equivalentTo"}
xref: SCTID:444604002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.78"}
xref: UMLS:C0334384 {source="MONDO:equivalentTo"}
is_a: MONDO:0004988 {source="EFO:1000382", source="NCIT:C5160"} ! breast adenocarcinoma
is_a: MONDO:0005853 {source="NCIT:C5160"} ! malignant mixed neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL007210
property_value: exactMatch http://identifiers.org/snomedct/444604002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334384
property_value: exactMatch NCIT:C5160

[Term]
id: MONDO:0006307
name: mixed somatotroph-lactotroph pituitary gland adenoma
def: "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." [NCIT:C45927]
synonym: "mixed GH-PRL cell adenoma" EXACT [NCIT:C45927]
synonym: "mixed Somatolactotrope adenoma" EXACT [NCIT:C45927]
synonym: "Mixed somatotroph and lactotroph adenoma" EXACT [NCIT:C45927]
synonym: "Mixed somatotroph and lactotroph adenoma" RELATED [NCIT:C45927]
synonym: "mixed somatotroph-lactotroph adenoma" EXACT [NCIT:C45927]
synonym: "mixed somatotroph-lactotroph pituitary gland adenoma" EXACT [NCIT:C45927]
xref: EFO:1000383 {source="MONDO:equivalentTo"}
xref: NCIT:C45927 {source="EFO:1000383", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1709052 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C45927", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="EFO:1000383", source="NCIT:C45927/inferred"} ! adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709052
property_value: exactMatch NCIT:C45927

[Term]
id: MONDO:0006309
name: mucinous gastric adenocarcinoma
def: "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." [NCIT:C5248]
synonym: "MSTAD" RELATED [ONCOTREE:MSTAD]
synonym: "mucinous adenocarcinoma of stomach" EXACT [NCIT:C5248]
synonym: "mucinous adenocarcinoma of the stomach" EXACT [DOID:3716, NCIT:C5248]
synonym: "mucinous gastric adenocarcinoma" EXACT [NCIT:C5248]
synonym: "mucinous stomach adenocarcinoma" EXACT [MONDO:0002753, NCIT:C5248]
synonym: "stomach mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3716 {source="MONDO:equivalentTo"}
xref: EFO:1000386 {source="MONDO:equivalentTo"}
xref: NCIT:C5248 {source="EFO:1000386", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11", source="DOID:3716"}
xref: ONCOTREE:MSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1334809 {source="MONDO:equivalentTo", source="NCIT:C5248", source="DOID:3716"}
is_a: MONDO:0004957 {source="EFO:1000386", source="MONDO:Redundant", source="MONDOLEX:0006309", source="NCIT:C5248"} ! mucinous adenocarcinoma
is_a: MONDO:0005036 {source="DOID:3716/inferred", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma
relationship: excluded_subClassOf MONDO:0005017 {source="DOID:3716"} ! diffuse gastric adenocarcinoma
property_value: exactMatch DOID:3716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334809
property_value: exactMatch NCIT:C5248

[Term]
id: MONDO:0006310
name: obsolete mucinuos carcinoma
is_obsolete: true
replaced_by: MONDO:0004957

[Term]
id: MONDO:0006311
name: myelodysplastic/myeloproliferative Neoplasm
def: "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." [NCIT:C27262]
synonym: "MDS-MPD" EXACT [NCIT:C27262]
synonym: "MDS/MPD" EXACT [NCIT:C27262]
synonym: "MDS/MPN" EXACT [NCIT:C27262, ONCOTREE:MDS%2FMPN]
synonym: "MPD-MDS" EXACT [NCIT:C27262]
synonym: "MPD/MDS" EXACT [NCIT:C27262]
synonym: "myelodysplastic myeloproliferative cancer" EXACT [DOID:4972]
synonym: "myelodysplastic myeloproliferative disease" EXACT [DOID:4972]
synonym: "myelodysplastic/myeloproliferative disease" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative diseases" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative disorder" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative disorders" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative Neoplasm" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative neoplasms" EXACT [ONCOTREE:MDS%2FMPN]
synonym: "myeloproliferative/myelodysplastic disorders" EXACT [NCIT:C27262]
synonym: "myeloproliferative/myelodysplastic syndromes" EXACT [DOID:4972, NCIT:C27262]
xref: DOID:4972 {source="MONDO:equivalentTo"}
xref: EFO:1000388 {source="MONDO:equivalentTo"}
xref: ICDO:9975/3 {source="NCIT:C27262"}
xref: NCIT:C27262 {source="DOID:4972", source="EFO:1000388", source="MONDO:equivalentTo"}
xref: ONCOTREE:MDS%2FMPN {source="MONDO:equivalentTo"}
xref: SCTID:445738007 {source="DOID:4972", source="MONDO:equivalentTo"}
is_a: MONDO:0020076 ! myeloproliferative neoplasm
property_value: closeMatch http://identifiers.org/snomedct/397336008
property_value: exactMatch DOID:4972
property_value: exactMatch http://identifiers.org/snomedct/445738007
property_value: exactMatch NCIT:C27262

[Term]
id: MONDO:0006312
name: myofibroma
def: "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C7052]
synonym: "infantile hemangiopericytoma" EXACT [NCIT:C7052]
synonym: "lipoleiomyoma" EXACT [DOID:4386]
synonym: "myofibroma" EXACT [DOID:4386, NCIT:C7052]
synonym: "myofibroma (morphologic abnormality)" EXACT [DOID:4386]
xref: DOID:4386 {source="MONDO:equivalentTo"}
xref: EFO:1000389 {source="MONDO:equivalentTo"}
xref: ICDO:8824/0 {source="NCIT:C7052"}
xref: MESH:D047708 {source="DOID:4386", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7052 {source="MONDO:equivalentTo", source="EFO:1000389", source="exact-label-match"}
xref: ONCOTREE:MF {source="MONDO:equivalentTo"}
xref: UMLS:C1266121 {source="DOID:4386", source="MONDO:equivalentTo", source="NCIT:C7052"}
is_a: MONDO:0001572 {source="DOID:4386", source="MONDO:Entailed"} ! leiomyoma
is_a: MONDO:0003342 {source="NCIT:C7052"} ! benign perivascular tumor
relationship: excluded_subClassOf MONDO:0000385 {source="DOID:4386"} ! benign digestive system neoplasm
relationship: excluded_subClassOf MONDO:0000654 {source="DOID:4386"} ! benign connective and soft tissue neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128917003
property_value: closeMatch http://identifiers.org/snomedct/44598004
property_value: exactMatch DOID:4386
property_value: exactMatch http://identifiers.org/mesh/D047708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266121
property_value: exactMatch NCIT:C7052

[Term]
id: MONDO:0006313
name: nabothian cyst
def: "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." [NCIT:P378]
comment: Editor note: check this
xref: EFO:1000390 {source="MONDO:equivalentTo"}
xref: NCIT:C34835 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000390"}
xref: SCTID:24565001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0027269 {source="MONDO:equivalentTo", source="NCIT:C34835"}
xref: Wikipedia:Nabothian_cyst {source="EFO:1000390"}
is_a: MONDO:0021230 ! uterine cervix neoplasm
property_value: exactMatch http://identifiers.org/snomedct/24565001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027269
property_value: exactMatch NCIT:C34835

[Term]
id: MONDO:0006314
name: nasal cavity polyp
def: "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." [NCIT:C3256]
synonym: "nasal cavity polyp" EXACT [MONDO:patterns/location, NCIT:C3256]
synonym: "nasal polyp" EXACT [NCIT:C3256]
synonym: "polyp of nasal cavity" EXACT [NCIT:C3256]
synonym: "polyp of the nasal cavity" EXACT [NCIT:C3256]
xref: COHD:253788 {source="MONDO:equivalentTo"}
xref: EFO:1000391 {source="MONDO:equivalentTo"}
xref: ICD9:471.0 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:471.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009298 {source="MONDO:equivalentTo"}
xref: NCIT:C3256 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000391"}
xref: SCTID:52756005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0027430 {source="MONDO:equivalentTo", source="NCIT:C3256"}
is_a: MONDO:0002232 {source="MONDO:Redundant", source="NCIT:C3256", source="indirect"} ! nasal cavity disease
is_a: MONDO:0005079 {source="EFO:1000391", source="MESH:D009298", source="MONDO:Redundant", source="NCIT:C3256", source="linkedlifedata"} ! polyp
property_value: exactMatch http://identifiers.org/mesh/D009298
property_value: exactMatch http://identifiers.org/snomedct/52756005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027430
property_value: exactMatch NCIT:C3256

[Term]
id: MONDO:0006315
name: neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C37005&ns=NCI_Thesaurus" [EFO:1000392]
comment: Editor note: this represents a cell type in NCIT
xref: EFO:1000392 {source="MONDO:equivalentTo"}
xref: NCIT:C37005 {source="EFO:1000392", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0004805 ! leukocyte disease
property_value: exactMatch NCIT:C37005

[Term]
id: MONDO:0006316
name: neuroblastic tumor
def: "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." [NCIT:C6963]
synonym: "neuroblastic tumor" EXACT [NCIT:C6963]
xref: EFO:1000393 {source="MONDO:equivalentTo"}
xref: NCIT:C6963 {source="EFO:1000393", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334953 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6963"}
is_a: MONDO:0005462 {source="EFO:1000393", source="NCIT:C6963"} ! primitive neuroectodermal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334953
property_value: exactMatch NCIT:C6963

[Term]
id: MONDO:0006317
name: neurothekeoma
def: "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." [NCIT:C7018]
synonym: "nerve sheath Myxoma" EXACT [NCIT:C7018]
synonym: "neurothekeoma" EXACT [NCIT:C7018]
xref: EFO:1000394 {source="MONDO:equivalentTo"}
xref: ICDO:9562/0 {source="NCIT:C7018"}
xref: MESH:D018321 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7018 {source="EFO:1000394", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0206730 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7018"}
is_a: MONDO:0002547 {source="MESH:D018321", source="NCIT:C7018"} ! nerve sheath neoplasm
property_value: exactMatch http://identifiers.org/mesh/D018321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206730
property_value: exactMatch NCIT:C7018

[Term]
id: MONDO:0006318
name: obsolete nevus of Ito
is_obsolete: true
replaced_by: MONDO:0016985

[Term]
id: MONDO:0006319
name: obsolete nevus of Ota
is_obsolete: true
replaced_by: MONDO:0016984

[Term]
id: MONDO:0006320
name: non-cutaneous melanoma
def: "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" [NCIT:C8711]
synonym: "extracutaneous melanoma" EXACT [NCIT:C8711]
synonym: "non-cutaneous melanoma" EXACT [NCIT:C8711]
xref: EFO:1000397 {source="MONDO:equivalentTo"}
xref: NCIT:C8711 {source="EFO:1000397", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1334974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005105 {source="EFO:1000397", source="NCIT:C8711"} ! melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334974
property_value: exactMatch NCIT:C8711

[Term]
id: MONDO:0006321
name: non-functioning adrenal cortex adenoma
def: "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." [NCIT:C48458]
synonym: "adrenal cortex non-functioning endocrine neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "adrenal cortical incidentaloma" EXACT [NCIT:C48458]
synonym: "non-functioning adrenal cortex adenoma" EXACT [NCIT:C48458]
synonym: "non-functioning adrenal cortical adenoma" EXACT [NCIT:C48458]
synonym: "non-functioning endocrine neoplasm of adrenal cortex" EXACT [MONDO:design_pattern]
synonym: "nonfunctional adrenal cortex adenoma" EXACT [NCIT:C48458]
xref: EFO:1000399 {source="MONDO:equivalentTo"}
xref: NCIT:C48458 {source="EFO:1000399", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1709240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C48458"}
is_a: MONDO:0003924 {source="MONDO:Redundant", source="MONDOLEX:0006321", source="NCIT:C48458"} ! adrenal cortex adenoma
is_a: MONDO:0021119 {source="MONDO:Redundant", source="NCIT:C48458"} ! non-functioning endocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709240
property_value: exactMatch NCIT:C48458

[Term]
id: MONDO:0006322
name: non-neoplastic bile duct disorder
def: "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." [NCIT:C35774]
synonym: "non-neoplastic bile duct disorder" EXACT [NCIT:C35774]
xref: EFO:1000400 {source="MONDO:equivalentTo"}
xref: NCIT:C35774 {source="MONDO:equivalentTo", source="EFO:1000400", source="exact-label-match"}
xref: UMLS:C3275160 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35774"}
is_a: MONDO:0002887 {source="NCIT:C35774"} ! bile duct disease
is_a: MONDO:0005151 {source="EFO:1000400"} ! endocrine system disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275160
property_value: exactMatch NCIT:C35774

[Term]
id: MONDO:0006323
name: non-seminomatous lesion
def: "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." [EFO:1000401]
xref: EFO:1000401 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:1000401"} ! neoplasm (disease)
property_value: exactMatch NCIT:C36127

[Term]
id: MONDO:0006324
name: normal breast-like subtype of breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." [NCIT:C53557]
synonym: "normal breast-like subtype of breast cancer" EXACT [NCIT:C53557]
synonym: "normal breast-like subtype of breast carcinoma" EXACT [NCIT:C53557]
xref: EFO:1000402 {source="MONDO:equivalentTo"}
xref: NCIT:C53557 {source="MONDO:equivalentTo", source="EFO:1000402", source="exact-label-match"}
xref: UMLS:C3642471 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C53557"}
is_a: MONDO:0006116 {source="NCIT:C53557"} ! breast carcinoma by gene expression profile
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642471
property_value: exactMatch NCIT:C53557

[Term]
id: MONDO:0006325
name: ocular melanoma
def: "A melanoma that arises from the structures of the eye or ocular adnexa." [NCIT:C8562]
synonym: "eye melanoma" EXACT [DOID:1752, NCIT:C8562]
synonym: "eye melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye melanoma" EXACT []
synonym: "eyeball of camera-type eye melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "intraocular melanoma" EXACT EXCLUDE [DOID:1752]
synonym: "melanoma (disease) of eyeball of camera-type eye" EXACT []
synonym: "melanoma of eye" EXACT [DOID:1752, NCIT:C8562]
synonym: "melanoma of the eye" EXACT [NCIT:C8562]
synonym: "ocular melanoma" EXACT [NCIT:C8562]
synonym: "OM" RELATED [ONCOTREE:OM]
xref: DOID:1752 {source="MONDO:equivalentTo"}
xref: EFO:1000403 {source="MONDO:equivalentTo"}
xref: GARD:0007236 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C8562 {source="MONDO:equivalentTo", source="EFO:1000403", source="exact-label-match"}
xref: ONCOTREE:OM {source="MONDO:equivalentTo"}
is_a: MONDO:0002236 {source="DOID:1752", source="NCIT:C8562"} ! ocular cancer
is_a: MONDO:0005105 {source="DOID:1752", source="EFO:1000403", source="MONDO:Redundant", source="NCIT:C8562", source="NCIT:C8562/inferred"} ! melanoma (disease)
is_a: MONDO:0021069 ! malignant endocrine neoplasm
relationship: excluded_subClassOf MONDO:0006320 {source="NCIT:C8562", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/22"} ! non-cutaneous melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0558356
property_value: exactMatch DOID:1752
property_value: exactMatch NCIT:C8562

[Term]
id: MONDO:0006326
name: ocular melanoma with extraocular extension
def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7913&ns=NCI_Thesaurus" [EFO:1000404]
synonym: "extraocular extension melanoma" EXACT [NCIT:C7913]
synonym: "extraocular extension of melanoma" EXACT [NCIT:C7913]
synonym: "ocular melanoma with extraocular extension" EXACT [NCIT:C7913]
xref: EFO:1000404 {source="MONDO:equivalentTo"}
xref: NCIT:C7913 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000404"}
xref: UMLS:C0278869 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7913"}
is_a: MONDO:0006325 {source="MONDOLEX:0006326", source="NCIT:C7913"} ! ocular melanoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278869
property_value: exactMatch NCIT:C7913

[Term]
id: MONDO:0006327
name: ocular sebaceous carcinoma
def: "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." [EFO:1000405]
synonym: "eye sebaceous carcinoma" EXACT [NCIT:C43340]
synonym: "ocular sebaceous carcinoma" EXACT [NCIT:C43340]
xref: EFO:1000405 {source="MONDO:equivalentTo"}
xref: NCIT:C43340 {source="MONDO:equivalentTo", source="EFO:1000405", source="exact-label-match"}
xref: UMLS:C1709308 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43340"}
is_a: MONDO:0002466 {source="NCIT:C43340"} ! eye carcinoma
is_a: MONDO:0006962 {source="MONDOLEX:0006327", source="NCIT:C43340"} ! sebaceous adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709308
property_value: exactMatch NCIT:C43340

[Term]
id: MONDO:0006328
name: odontogenic cyst
def: "A cyst in the jaw that arises from tissues of tooth development." [NCIT:P378]
xref: EFO:1000406 {source="MONDO:equivalentTo"}
xref: ICD9:526.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009807 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C54220 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:otherHierarchy", source="EFO:1000406"}
xref: SCTID:235110008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Wikipedia:Odontogenic_cyst {source="EFO:1000406"}
is_a: MONDO:0005070 {source="EFO:1000406", source="MESH:D009807/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028879
property_value: exactMatch http://identifiers.org/mesh/D009807
property_value: exactMatch http://identifiers.org/snomedct/235110008
property_value: exactMatch NCIT:C54220

[Term]
id: MONDO:0006329
name: olfactory neuroblastoma
def: "An olfactory neuroblastoma arising in the paranasal sinus." [NCIT:P378]
synonym: "Asthesioneuroblastoma" EXACT [DOID:369]
synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [DOID:369]
synonym: "esthesioneuroblastoma" EXACT [NCIT:C3789]
synonym: "esthesioneuroblastoma (morphologic abnormality)" EXACT [DOID:369]
synonym: "Esthesioneuroepithelioma" EXACT [NCIT:C3789]
synonym: "Esthesioneuroepithelioma (morphologic abnormality)" EXACT [DOID:369]
synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" EXACT [DOID:369]
synonym: "olfactory esthesioneuroblastoma" EXACT [DOID:369, NCIT:C3789]
synonym: "olfactory neuroblastoma" EXACT [NCIT:C3789]
synonym: "olfactory neuroepithelioma" EXACT [NCIT:C3789]
synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369, NCIT:C6016]
xref: DOID:369 {source="MONDO:equivalentTo", source="EFO:1000407"}
xref: EFO:1000407 {source="MONDO:equivalentTo"}
xref: ICDO:9522/3 {source="NCIT:C3789"}
xref: ICDO:9523/3 {source="NCIT:C3789"}
xref: NCIT:C3789 {source="DOID:369", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.84/1.65", source="EFO:1000407"}
xref: ONCOTREE:ONBL {source="MONDO:equivalentTo"}
is_a: MONDO:0002433 {source="DOID:369/inferred", source="MONDO:Redundant", source="NCIT:C3789/inferred"} ! malignant cranial nerve neoplasm
is_a: MONDO:0002722 {source="DOID:369", source="NCIT:C3789/inferred"} ! olfactory nerve neoplasm
is_a: MONDO:0002749 {source="NCIT:C3789"} ! extracranial neuroblastoma
is_a: MONDO:0003142 ! intracranial primitive neuroectodermal tumor
property_value: closeMatch http://identifiers.org/mesh/D018304
property_value: closeMatch http://identifiers.org/snomedct/189937004
property_value: closeMatch http://identifiers.org/snomedct/189938009
property_value: closeMatch http://identifiers.org/snomedct/68614005
property_value: closeMatch http://identifiers.org/snomedct/76060004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206717
property_value: closeMatch NCIT:C6016
property_value: exactMatch DOID:369
property_value: exactMatch NCIT:C3789

[Term]
id: MONDO:0006330
name: ossifying fibromyxoid tumor
def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." [NCIT:P378]
synonym: "OFMT" EXACT [NCIT:C6582, ONCOTREE:OFMT]
synonym: "ossifying fibromyxoid neoplasm" EXACT [NCIT:C6582]
synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [DOID:2685]
synonym: "ossifying fibromyxoma" EXACT [DOID:2685, NCIT:C6582]
xref: DOID:2685 {source="MONDO:equivalentTo"}
xref: EFO:1000408 {source="MONDO:equivalentTo"}
xref: ICDO:8842/0 {source="NCIT:C6582"}
xref: NCIT:C6582 {source="EFO:1000408", source="DOID:2685", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: ONCOTREE:OFMT {source="MONDO:equivalentTo"}
xref: SCTID:404076001 {source="DOID:2685", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1266128 {source="NCIT:C6582", source="DOID:2685", source="MONDO:equivalentTo"}
is_a: MONDO:0037745 {source="NCIT:C6582"} ! fibromyxoid tumor
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:2685"} ! mesenchymal cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128745002
property_value: exactMatch DOID:2685
property_value: exactMatch http://identifiers.org/snomedct/404076001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266128
property_value: exactMatch NCIT:C6582

[Term]
id: MONDO:0006331
name: obsolete ovarian carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0003792

[Term]
id: MONDO:0006332
name: obsolete ovarian choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0003507

[Term]
id: MONDO:0006333
name: obsolete ovarian dysgerminoma
is_obsolete: true
replaced_by: MONDO:0003481

[Term]
id: MONDO:0006334
name: obsolete ovarian embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0003581

[Term]
id: MONDO:0006335
name: ovarian endometrioid adenocarcinoma
def: "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." [NCIT:C7979]
subset: ordo_disease {source="Orphanet:454723"}
synonym: "endometrioid adenocarcinoma of ovary" EXACT [NCIT:C7979]
synonym: "endometrioid adenocarcinoma of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid cancer of ovary" EXACT [NCIT:C7979]
synonym: "endometrioid cancer of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid carcinoma of ovary" EXACT [DOID:5828, NCIT:C7979]
synonym: "endometrioid carcinoma of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid carcinoma ovary" EXACT [DOID:5828]
synonym: "endometrioid ovarian cancer" RELATED [ONCOTREE:EOV]
synonym: "endometrioid ovary carcinoma" EXACT [MONDO:0003662]
synonym: "endometrium adenocarcinoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian endometrioid adenocarcinoma" EXACT [NCIT:C7979]
synonym: "ovarian endometrioid adenocarcinoma NOS" RELATED EXCLUDE [NCIT:C7979]
synonym: "ovarian endometrioid adenocarcinoma not otherwise specified" RELATED EXCLUDE [NCIT:C7979]
synonym: "ovarian endometrioid cancer" EXACT [NCIT:C7979]
synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979]
synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5828 {source="MONDO:equivalentTo"}
xref: EFO:1000416 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:454723/ntbt", source="Orphanet:454723"}
xref: NCIT:C7979 {source="MONDO:equivalentTo", source="EFO:1000416", source="DOID:5828"}
xref: ONCOTREE:EOV {source="MONDO:equivalentTo"}
xref: Orphanet:454723 {source="MONDO:equivalentTo"}
xref: SCTID:254852002 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo", source="DOID:5828"}
xref: UMLS:C0346163 {source="MONDO:equivalentTo", source="Orphanet:454723", source="DOID:5828", source="NCIT:C7979"}
is_a: MONDO:0002752 {source="DOID:5828", source="EFO:1000416", source="MONDO:Redundant", source="MONDOLEX:0006335", source="NCIT:C7979"} ! ovarian adenocarcinoma
is_a: MONDO:0003812 {source="NCIT:C7979"} ! ovarian endometrial cancer
is_a: MONDO:0005026 {source="MONDOLEX:0006335", source="NCIT:C7979"} ! endometrioid adenocarcinoma
is_a: MONDO:0005461 {source="EFO:1000416", source="MONDO:Redundant", source="MONDOLEX:0006335"} ! endometrium adenocarcinoma
property_value: exactMatch DOID:5828
property_value: exactMatch http://identifiers.org/snomedct/254852002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346163
property_value: exactMatch NCIT:C7979
property_value: exactMatch Orphanet:454723

[Term]
id: MONDO:0006336
name: ovarian endometrioid adenocarcinoma with squamous differentiation
def: "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." [NCIT:C40061]
synonym: "ovarian adenoacanthoma" EXACT [NCIT:C40061]
synonym: "ovarian adenosquamous carcinoma" EXACT [NCIT:C40061]
synonym: "ovarian endometrioid adenocarcinoma with squamous differentiation" EXACT [NCIT:C40061]
xref: EFO:1000417 {source="MONDO:equivalentTo"}
xref: NCIT:C40061 {source="MONDO:equivalentTo", source="EFO:1000417"}
is_a: MONDO:0006335 {source="MONDOLEX:0006336", source="NCIT:C40061"} ! ovarian endometrioid adenocarcinoma
property_value: exactMatch NCIT:C40061

[Term]
id: MONDO:0006337
name: ovarian endometriosis
def: "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." [NCIT:C27628]
synonym: "endometriosis (disease) of ovary" EXACT []
synonym: "endometriosis of ovary" EXACT [MONDO:0001289]
synonym: "ovarian endometriosis" EXACT [DOID:11432]
synonym: "ovary endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: COHD:199881 {source="MONDO:equivalentTo"}
xref: DOID:11432 {source="MONDO:equivalentTo"}
xref: EFO:1000418 {source="MONDO:equivalentTo"}
xref: ICD10:N80.1 {source="MONDO:equivalentTo", source="DOID:11432"}
xref: ICD9:617.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11432"}
xref: NCIT:C27628 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.21", source="EFO:1000418", source="DOID:11432"}
xref: SCTID:266589005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11432"}
xref: UMLS:C0156344 {source="MONDO:equivalentTo", source="NCIT:C27628", source="DOID:11432"}
is_a: MONDO:0005133 {source="DOID:11432", source="EFO:1000418", source="ICD10:N80.1", source="MONDO:Redundant", source="NCIT:C27628", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
is_a: MONDO:0005558 {source="DOID:11432", source="MONDO:Redundant", source="NCIT:C27628/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian disease
property_value: closeMatch http://identifiers.org/snomedct/198250000
property_value: closeMatch http://identifiers.org/snomedct/31007005
property_value: exactMatch DOID:11432
property_value: exactMatch http://identifiers.org/snomedct/266589005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156344
property_value: exactMatch NCIT:C27628

[Term]
id: MONDO:0006338
name: obsolete ovarian germ cell tumor
is_obsolete: true
replaced_by: MONDO:0011366

[Term]
id: MONDO:0006339
name: ovarian microcystic stromal tumor
def: "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." [NCIT:C121953]
xref: EFO:1000424 {source="MONDO:equivalentTo"}
xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="exact-label-match"}
xref: UMLS:C4054287 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C121953"}
is_a: MONDO:0024387 {source="NCIT:C121953"} ! benign ovarian sex cord-stromal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054287
property_value: exactMatch NCIT:C121953

[Term]
id: MONDO:0006340
name: ovarian serous adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." [NCIT:C40031]
synonym: "ovarian serous adenofibroma" EXACT [NCIT:C40031]
synonym: "ovary serous adenofibroma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "serous adenofibroma of ovary" EXACT [MONDO:design_pattern]
xref: DOID:5474 {source="MONDO:equivalentTo"}
xref: EFO:1000428 {source="MONDO:equivalentTo"}
xref: NCIT:C40031 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5474", source="EFO:1000428"}
xref: UMLS:C1518729 {source="MONDO:equivalentTo", source="NCIT:C40031", source="DOID:5474"}
is_a: MONDO:0000646 {source="DOID:5474", source="MONDO:Redundant", source="NCIT:C40031/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0024886 ! serous adenofibroma
property_value: exactMatch DOID:5474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518729
property_value: exactMatch NCIT:C40031

[Term]
id: MONDO:0006341
name: obsolete ovarian small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0003795

[Term]
id: MONDO:0006342
name: obsolete ovarian squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0003494

[Term]
id: MONDO:0006343
name: ovarian transitional cell carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." [NCIT:C5240]
synonym: "malignant ovarian transitional cell neoplasm" EXACT [DOID:4000]
synonym: "ovarian transitional cell cancer" EXACT [DOID:4000, NCIT:C5240]
synonym: "ovarian transitional cell carcinoma" EXACT [NCIT:C5240]
synonym: "ovarian transitional cell neoplasm" RELATED [DOID:4000]
synonym: "ovary transitional cell carcinoma" EXACT [MONDO:0002830, MONDO:patterns/location]
synonym: "transitional cell carcinoma of ovary" EXACT [DOID:4000, NCIT:C5240]
synonym: "transitional cell carcinoma of the ovary" EXACT [NCIT:C5240]
xref: DOID:4000 {source="MONDO:equivalentTo"}
xref: EFO:1000435 {source="MONDO:equivalentTo"}
xref: NCIT:C5240 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.86/4.32", source="EFO:1000435", source="DOID:4000"}
xref: UMLS:C1335184 {source="NCIT:C5240", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:4000"}
is_a: MONDO:0005140 {source="EFO:1000435", source="MONDO:Redundant", source="MONDOLEX:0006343", source="NCIT:C5240"} ! ovarian carcinoma
is_a: MONDO:0006474 {source="DOID:4000", source="MONDO:Redundant", source="MONDOLEX:0006343", source="NCIT:C5240"} ! transitional cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335185
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518237
property_value: closeMatch NCIT:C40089
property_value: closeMatch NCIT:C7280
property_value: exactMatch DOID:4000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335184
property_value: exactMatch NCIT:C5240

[Term]
id: MONDO:0006344
name: ovarian yolk sac tumor
def: "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." [] {source="NCIT:C8107"}
synonym: "endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus tumor of ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus tumor of the ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus tumor of ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus tumor of the ovary" EXACT [NCIT:C8107]
synonym: "ovarian endodermal sinus neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian endodermal sinus tumor" EXACT [NCIT:C8107]
synonym: "ovarian germ cell endodermal sinus neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian germ cell endodermal sinus tumor" EXACT [NCIT:C8107]
synonym: "ovarian yolk Sac neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian yolk sac tumor" EXACT [DOID:5350, MONDO:0003407, NCIT:C8107]
synonym: "ovary yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "yolk Sac neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "yolk Sac neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "yolk sac tumor" RELATED [ONCOTREE:OYST]
synonym: "yolk Sac tumor of ovary" EXACT [NCIT:C8107]
synonym: "yolk Sac tumor of the ovary" EXACT [NCIT:C8107]
xref: DOID:5350 {source="MONDO:equivalentTo"}
xref: EFO:1000437 {source="MONDO:equivalentTo"}
xref: NCIT:C8107 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5350", source="EFO:1000437"}
xref: ONCOTREE:OYST {source="MONDO:equivalentTo"}
xref: SCTID:254876005 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:5350", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346188 {source="MONDO:equivalentTo", source="NCIT:C8107", source="DOID:5350"}
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C8107", source="linkedlifedata"} ! yolk sac tumor
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8107"} ! malignant non-dysgerminomatous germ cell tumor of ovary
property_value: exactMatch DOID:5350
property_value: exactMatch http://identifiers.org/snomedct/254876005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346188
property_value: exactMatch NCIT:C8107

[Term]
id: MONDO:0006345
name: palmar fibromatosis
def: "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." [NCIT:C3469]
synonym: "Dupuytren contracture" EXACT [MONDO:ambiguous]
synonym: "Dupuytren contracture" RELATED [NCIT:C3469]
synonym: "Dupuytren contracture (disease)" EXACT [MONDO:0005360]
synonym: "Dupuytren's contracture" RELATED [NCIT:C3469]
synonym: "palmar fibromatosis" EXACT [NCIT:C3469]
synonym: "palmar part of manus fibromatosis" EXACT [MONDO:patterns/location]
xref: EFO:0004229 {source="MONDO:equivalentTo"}
xref: EFO:1000438 {source="MONDO:equivalentTo"}
xref: HP:0005679 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D004387 {source="MONDO:equivalentTo", source="EFO:0004229"}
xref: NCIT:C3469 {source="MONDO:equivalentTo", source="EFO:1000438", source="NCIT:C3469"}
xref: SCTID:203045001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.48/1.02"}
is_a: MONDO:0005307 {source="EFO:0004229", source="MESH:D004387"} ! contracture
is_a: MONDO:0016037 {source="NCIT:C3469"} ! superficial Fibromatosis
is_a: MONDO:0044990 ! hand disease
property_value: closeMatch http://identifiers.org/snomedct/410812005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013312
property_value: exactMatch http://identifiers.org/mesh/D004387
property_value: exactMatch http://identifiers.org/snomedct/203045001
property_value: exactMatch NCIT:C3469

[Term]
id: MONDO:0006346
name: pancreatic acinar cell carcinoma
def: "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." [NCIT:C7977]
subset: ordo_disease {source="Orphanet:424046"}
synonym: "acinar cell adenocarcinoma of pancreas" EXACT [NCIT:C7977]
synonym: "acinar cell adenocarcinoma of the pancreas" EXACT [NCIT:C7977]
synonym: "acinar cell carcinoma of pancreas" EXACT [MONDO:0018522, NCIT:C7977]
synonym: "acinar cell carcinoma of the pancreas" EXACT [NCIT:C7977]
synonym: "carcinoma of pancreatic acinar cell" EXACT [MONDO:patterns/carcinoma]
synonym: "PAAC" RELATED [ONCOTREE:PAAC]
synonym: "pancreas acinar cell adenocarcinoma" EXACT [NCIT:C7977]
synonym: "pancreatic acinar cell adenocarcinoma" EXACT [MONDO:0003623, NCIT:C7977]
synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977]
synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046]
xref: DOID:5742 {source="MONDO:equivalentTo"}
xref: EFO:1000439 {source="MONDO:equivalentTo"}
xref: ICD10:C25.0 {source="ORDO:424046/nd", source="Orphanet:424046"}
xref: ICD10:C25.1 {source="ORDO:424046/nd", source="Orphanet:424046"}
xref: ICD10:C25.2 {source="ORDO:424046/nd", source="Orphanet:424046"}
xref: ICD10:C25.7 {source="ORDO:424046/nd", source="Orphanet:424046"}
xref: ICD10:C25.8 {source="ORDO:424046/nd", source="Orphanet:424046"}
xref: NCIT:C7977 {source="DOID:5742", source="MONDO:equivalentTo", source="EFO:1000439"}
xref: ONCOTREE:PAAC {source="MONDO:equivalentTo"}
xref: Orphanet:424046 {source="MONDO:equivalentTo"}
xref: UMLS:C0279661 {source="DOID:5742", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7977", source="Orphanet:424046"}
is_a: MONDO:0004965 {source="DOID:5742", source="EFO:1000439", source="MONDO:Redundant", source="MONDOLEX:0006346", source="NCIT:C7977"} ! acinar cell carcinoma
is_a: MONDO:0006047 {source="DOID:5742", source="MONDO:Redundant", source="MONDOLEX:0006346", source="NCIT:C7977"} ! pancreatic adenocarcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch DOID:5742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279661
property_value: exactMatch NCIT:C7977
property_value: exactMatch Orphanet:424046

[Term]
id: MONDO:0006347
name: pancreatic large cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." [NCIT:C95582]
synonym: "large cell neuroendocrine carcinoma of pancreas" EXACT [MONDO:design_pattern]
synonym: "pancreas large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic large cell NEC" EXACT [NCIT:C95582]
synonym: "pancreatic large cell NEC G3" EXACT [NCIT:C95582]
synonym: "pancreatic large cell neuroendocrine carcinoma" EXACT [NCIT:C95582]
xref: EFO:1000442 {source="MONDO:equivalentTo"}
xref: NCIT:C95582 {source="MONDO:equivalentTo", source="EFO:1000442", source="exact-label-match"}
xref: UMLS:C2987239 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C95582"}
is_a: MONDO:0005057 {source="EFO:1000442", source="MONDO:Redundant", source="MONDOLEX:0006347", source="NCIT:C95582"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005192 {source="EFO:1000442", source="MONDO:Redundant", source="indirect"} ! exocrine pancreatic carcinoma
is_a: MONDO:0005893 {source="NCIT:C95582"} ! pancreatic endocrine carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987239
property_value: exactMatch NCIT:C95582

[Term]
id: MONDO:0006348
name: pancreatic small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." [NCIT:C95583]
synonym: "endocrine pancreas small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic small cell NEC" EXACT [NCIT:C95583]
synonym: "pancreatic small cell NEC G3" EXACT [NCIT:C95583]
synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [NCIT:C95583]
synonym: "small cell carcinoma of endocrine pancreas" EXACT [MONDO:design_pattern]
xref: EFO:1000444 {source="MONDO:equivalentTo"}
xref: NCIT:C95583 {source="MONDO:equivalentTo", source="EFO:1000444"}
xref: UMLS:C2987240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C95583"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="MONDOLEX:0006348", source="NCIT:C95583"} ! small cell carcinoma
is_a: MONDO:0005893 {source="MONDO:Redundant", source="NCIT:C95583"} ! pancreatic endocrine carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2987240
property_value: exactMatch NCIT:C95583

[Term]
id: MONDO:0006349
name: papillary cystic neoplasm
def: "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." [NCIT:C4179]
synonym: "papillary cystic neoplasm" EXACT [NCIT:C4179]
synonym: "papillary cystic tumor" EXACT [NCIT:C4179]
xref: EFO:1000448 {source="MONDO:equivalentTo"}
xref: NCIT:C4179 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000448"}
xref: UMLS:C0334357 {source="MONDO:equivalentTo", source="NCIT:C4179"}
is_a: MONDO:0021077 {source="MONDOLEX:0006349", source="NCIT:C4179"} ! cystic neoplasm
is_a: MONDO:0021096 {source="NCIT:C4179"} ! papillary epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334357
property_value: exactMatch NCIT:C4179

[Term]
id: MONDO:0006350
name: papillary transitional cell carcinoma
def: "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." [NCIT:C4122]
synonym: "papillary transitional carcinoma" EXACT [MONDO:0002835, NCIT:C4122]
synonym: "papillary transitional cell carcinoma" EXACT EXCLUDE [DOID:4012, NCIT:C4122]
synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [DOID:4012]
xref: DOID:4012 {source="MONDO:equivalentTo"}
xref: EFO:1000450 {source="MONDO:equivalentTo"}
xref: ICDO:8130/3 {source="NCIT:C4122"}
xref: NCIT:C4122 {source="DOID:4012", source="EFO:1000450", source="MONDO:equivalentTo"}
xref: UMLS:C0334274 {source="DOID:4012", source="NCIT:C4122", source="MONDO:equivalentTo"}
is_a: MONDO:0006474 {source="DOID:4012", source="MONDOLEX:0002835", source="MONDOLEX:0006350", source="NCIT:C4122"} ! transitional cell carcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C4122"} ! papillary carcinoma
disjoint_from: MONDO:0016211 ! non-papillary transitional cell carcinoma of the bladder
property_value: closeMatch http://identifiers.org/snomedct/12400006
property_value: exactMatch DOID:4012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334274
property_value: exactMatch NCIT:C4122

[Term]
id: MONDO:0006351
name: parachordoma
def: "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." [NCIT:C6581]
synonym: "parachordoma" EXACT [NCIT:C6581]
xref: DOID:2647 {source="MONDO:equivalentTo"}
xref: EFO:1000452 {source="MONDO:equivalentTo"}
xref: ICDO:9373/0 {source="NCIT:C6581"}
xref: ICDO:9373/1 {source="NCIT:C6581"}
xref: NCIT:C6581 {source="EFO:1000452", source="MONDO:equivalentTo", source="DOID:2647", source="exact-label-match"}
xref: SCTID:404086000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2647"}
xref: UMLS:C1266175 {source="NCIT:C6581", source="MONDO:equivalentTo", source="DOID:2647"}
is_a: MONDO:0002380 {source="NCIT:C6581"} ! myoepithelial tumor
property_value: closeMatch http://identifiers.org/snomedct/128786009
property_value: exactMatch DOID:2647
property_value: exactMatch http://identifiers.org/snomedct/404086000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266175
property_value: exactMatch NCIT:C6581

[Term]
id: MONDO:0006352
name: paranasal sinus adenoid cystic carcinoma
def: "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." [NCIT:C6019]
synonym: "accessory sinus adenoid cystic carcinoma" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of accessory sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of paranasal sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of the accessory sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of the paranasal sinus" EXACT [NCIT:C6019]
synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6019]
xref: EFO:1000454 {source="MONDO:equivalentTo"}
xref: NCIT:C6019 {source="EFO:1000454", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335337 {source="MONDO:equivalentTo", source="NCIT:C6019", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000380 ! paranasal sinus carcinoma
is_a: MONDO:0004971 {source="EFO:1000454", source="MONDO:Redundant", source="MONDOLEX:0006352", source="NCIT:C6019"} ! adenoid cystic carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335337
property_value: exactMatch NCIT:C6019

[Term]
id: MONDO:0006353
name: paranasal sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6835]
synonym: "accessory sinus Schneiderian papilloma" RELATED [NCIT:C6835]
synonym: "paranasal sinus Schneiderian papilloma" EXACT [NCIT:C6835]
synonym: "Schneiderian papilloma of accessory sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of paranasal sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of the accessory sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of the paranasal sinus" RELATED [NCIT:C6835]
xref: EFO:1000455 {source="MONDO:equivalentTo"}
xref: NCIT:C6835 {source="MONDO:equivalentTo", source="EFO:1000455"}
xref: UMLS:C1335343 {source="MONDO:equivalentTo", source="NCIT:C6835"}
is_a: MONDO:0000382 ! respiratory system benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0005289 {source="EFO:1000455", source="NCIT:C6835/inferred"} ! paranasal sinus neoplasm (disease)
is_a: MONDO:0021078 {source="NCIT:C6835/inferred", source="NCIT:inferred"} ! glandular papilloma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335343
property_value: exactMatch NCIT:C6835

[Term]
id: MONDO:0006354
name: parathyroid hyperplasia (disease)
def: "A hyperplasia that involves the parathyroid gland." [MONDO:patterns/location]
synonym: "hyperplasia of parathyroid" EXACT [NCIT:C3989]
synonym: "hyperplasia of the parathyroid" EXACT [NCIT:C3989]
synonym: "parathyroid gland hyperplasia" EXACT [MONDO:patterns/location]
synonym: "parathyroid hyperplasia" EXACT [MONDO:ambiguous, NCIT:C3989]
xref: EFO:1000457 {source="MONDO:equivalentTo"}
xref: HP:0008208 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C3989 {source="MONDO:equivalentTo", source="EFO:1000457"}
xref: SCTID:9092004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271844 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3989"}
is_a: MONDO:0001223 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! parathyroid gland disease
is_a: MONDO:0005043 {source="EFO:1000457", source="MONDO:Redundant", source="NCIT:C3989"} ! hyperplasia
property_value: exactMatch http://identifiers.org/snomedct/9092004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271844
property_value: exactMatch NCIT:C3989

[Term]
id: MONDO:0006355
name: parotid gland acinic cell carcinoma
def: "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." [NCIT:C5933]
synonym: "acinic cell carcinoma of parotid" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of parotid gland" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of the parotid" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of the parotid gland" RELATED [NCIT:C5933]
synonym: "parotid acinic cell carcinoma" RELATED [NCIT:C5933]
synonym: "parotid gland acinar cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "parotid gland acinic cell carcinoma" EXACT [NCIT:C5933]
xref: EFO:1000458 {source="MONDO:equivalentTo"}
xref: NCIT:C5933 {source="MONDO:equivalentTo", source="EFO:1000458", source="NCIT:C5933"}
xref: UMLS:C1335353 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5933"}
is_a: MONDO:0004965 {source="EFO:1000458", source="MONDO:Redundant", source="MONDOLEX:0006355", source="NCIT:C5933/inferred"} ! acinar cell carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! carcinoma of parotid gland
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335353
property_value: exactMatch NCIT:C5933

[Term]
id: MONDO:0006356
name: parotid gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5937]
synonym: "adenoid cystic carcinoma of parotid" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of parotid gland" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of the parotid" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of the parotid gland" EXACT [NCIT:C5937]
synonym: "parotid adenoid cystic carcinoma" EXACT [NCIT:C5937]
synonym: "parotid gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050931 {source="MONDO:equivalentTo"}
xref: EFO:1000459 {source="MONDO:equivalentTo"}
xref: NCIT:C5937 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000459"}
xref: SCTID:423615009 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1335355 {source="NCIT:C5937", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5937"} ! carcinoma of parotid gland
is_a: MONDO:0045063 ! major salivary gland adenoid cystic carcinoma
property_value: exactMatch DOID:0050931
property_value: exactMatch http://identifiers.org/snomedct/423615009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335355
property_value: exactMatch NCIT:C5937

[Term]
id: MONDO:0006357
name: parotid gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of parotid" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of parotid gland" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of the parotid" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of the parotid gland" EXACT [NCIT:C5974]
synonym: "parotid carcinoma ex pleomorphic adenoma" EXACT [NCIT:C5974]
synonym: "parotid gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5974]
xref: EFO:1000461 {source="MONDO:equivalentTo"}
xref: NCIT:C5974 {source="EFO:1000461", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:425127006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335356 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5974"}
is_a: MONDO:0006285 {source="MONDO:Redundant", source="NCIT:C5974"} ! major salivary gland carcinoma ex pleomorphic adenoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5974"} ! carcinoma of parotid gland
property_value: exactMatch http://identifiers.org/snomedct/425127006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335356
property_value: exactMatch NCIT:C5974

[Term]
id: MONDO:0006358
name: parotid gland squamous cell carcinoma
def: "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." [NCIT:C5942]
synonym: "parotid gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "parotid squamous cell carcinoma" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of parotid" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of parotid gland" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of the parotid" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of the parotid gland" EXACT [NCIT:C5942]
xref: EFO:1000463 {source="MONDO:equivalentTo"}
xref: NCIT:C5942 {source="EFO:1000463", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335367 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5942"}
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5942"} ! carcinoma of parotid gland
is_a: MONDO:0044740 ! salivary gland squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335367
property_value: exactMatch NCIT:C5942

[Term]
id: MONDO:0006359
name: neoplasm with perivascular epithelioid cell differentiation
def: "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." [NCIT:C38150]
comment: MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). {source="EFO:1000464"}
synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150]
synonym: "PEComa" EXACT [DOID:2643]
synonym: "perivascular epithelioid cell tumor" RELATED [DOID:2643]
synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT:C38150]
xref: DOID:2643 {source="MONDO:equivalentTo", source="EFO:1000464"}
xref: EFO:1000464 {source="MONDO:equivalentTo"}
xref: MESH:D054973 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464", source="MONDO:ontobio"}
xref: NCIT:C38150 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"}
xref: ONCOTREE:PECOMA {source="MONDO:equivalentTo"}
xref: UMLS:C1300127 {source="MONDO:equivalentTo", source="DOID:2643", source="NCIT:C38150"}
is_a: MONDO:0006424 {source="NCIT:C38150/inferred", source="ONCOTREE:PECOMA"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002604 {source="DOID:2643"} ! pericytic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/388601000
property_value: exactMatch DOID:2643
property_value: exactMatch http://identifiers.org/mesh/D054973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300127
property_value: exactMatch NCIT:C38150

[Term]
id: MONDO:0006360
name: penile carcinoma
def: "A carcinoma that arises from epithelial cells of the penis" [MONDO:DesignPattern]
synonym: "cancer of penis" EXACT [NCIT:C9061]
synonym: "cancer of the penis" EXACT [NCIT:C9061]
synonym: "cancer penis" RELATED [GARD:0009366]
synonym: "carcinoma of penis" EXACT [MONDO:patterns/carcinoma, NCIT:C9061]
synonym: "carcinoma of the penis" EXACT [NCIT:C9061]
synonym: "penile cancer" BROAD [NCIT:C9061]
synonym: "penile cancer, adult" RELATED [GARD:0009366]
synonym: "penile cancer, NOS" RELATED EXCLUDE [NCIT:C9061]
synonym: "penile carcinoma" EXACT [DOID:3449, NCIT:C9061]
synonym: "penis carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3449 {source="EFO:1000465", source="MONDO:equivalentTo"}
xref: EFO:1000465 {source="MONDO:equivalentTo"}
xref: GARD:0009366 {source="MONDO:equivalentTo"}
xref: NCIT:C9061 {source="EFO:1000465", source="MONDO:equivalentTo", source="DOID:3449"}
xref: SCTID:372106005 {source="MONDO:kboom-pr-0.97/0.91/1.20", source="MONDO:equivalentTo", source="DOID:3449"}
is_a: MONDO:0001325 {source="DOID:3449", source="MONDO:Redundant", source="MONDOLEX:0006360", source="NCIT:C9061", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile cancer
is_a: MONDO:0004993 {source="DOID:3449", source="EFO:1000465", source="MONDO:Redundant", source="MONDOLEX:0006360", source="NCIT:C9061", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0853105
property_value: exactMatch DOID:3449
property_value: exactMatch http://identifiers.org/snomedct/372106005
property_value: exactMatch NCIT:C9061

[Term]
id: MONDO:0006361
name: penile fibromatosis
def: "Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect." [NCIT:P378]
synonym: "penile fibromatosis" EXACT [NCIT:C3316]
synonym: "penile induration" EXACT [NCIT:C3316]
synonym: "penis fibromatosis" EXACT [MONDO:patterns/location]
synonym: "Peyronie's disease" EXACT [NCIT:C3316]
synonym: "Peyronie's fibromatosis" EXACT [NCIT:C3316]
xref: EFO:1000466 {source="MONDO:equivalentTo"}
xref: NCIT:C3316 {source="MONDO:equivalentTo", source="EFO:1000466", source="MONDO:kboom-pr-0.93/0.86/0.11"}
is_a: MONDO:0006895 ! penile neoplasm
is_a: MONDO:0016037 {source="NCIT:C3316"} ! superficial Fibromatosis
property_value: exactMatch NCIT:C3316

[Term]
id: MONDO:0006362
name: peritoneal mesothelioma (disease)
def: "A benign or malignant mesothelial neoplasm that arises from the peritoneum." [NCIT:C7633]
synonym: "mesothelioma of peritoneum" EXACT [NCIT:C7633]
synonym: "mesothelioma of the peritoneum" EXACT [NCIT:C7633]
synonym: "peritoneal mesothelioma" EXACT [MONDO:ambiguous, NCIT:C7633]
synonym: "peritoneum mesothelioma" EXACT [MONDO:patterns/location]
xref: EFO:1000467 {source="MONDO:equivalentTo"}
xref: HP:0100003 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C45.1 {source="DOID:1788"}
xref: NCIT:C7633 {source="MONDO:equivalentTo", source="EFO:1000467"}
xref: ONCOTREE:PEMESO {source="MONDO:equivalentTo"}
xref: SCTID:109853004 {source="MONDO:kboom-pr-0.87/0.62/1.00", source="MONDO:equivalentTo", source="DOID:1788"}
is_a: MONDO:0005065 {source="EFO:1000467", source="MONDO:Redundant", source="NCIT:C7633", source="OWLReasoner:2017"} ! mesothelioma
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C7633", source="linkedlifedata/inferred"} ! peritoneal neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187806007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854886
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1377610
property_value: exactMatch http://identifiers.org/snomedct/109853004
property_value: exactMatch NCIT:C7633

[Term]
id: MONDO:0006363
name: peritoneal multicystic mesothelioma
def: "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." [NCIT:C6536]
subset: ordo_disease {source="Orphanet:168816"}
synonym: "benign cystic peritoneal mesothelioma" RELATED [GARD:0010777]
synonym: "benign multicystic peritoneal mesothelioma" EXACT [Orphanet:168816]
synonym: "BMPM" RELATED [GARD:0010777]
synonym: "multicystic mesothelioma" EXACT [Orphanet:168816]
synonym: "multicystic mesothelioma of peritoneum" EXACT [NCIT:C6536]
synonym: "multicystic mesothelioma of the peritoneum" EXACT [NCIT:C6536]
synonym: "multilocular peritoneal cysts" RELATED [GARD:0010777]
synonym: "multilocular peritoneal inclusion cyst" EXACT [NCIT:C6536, Orphanet:168816]
synonym: "multilocular peritoneal inclusion cysts" RELATED [GARD:0010777]
synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816]
synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536]
xref: EFO:1000468 {source="MONDO:equivalentTo"}
xref: GARD:0010777 {source="MONDO:equivalentTo"}
xref: ICD10:C45.1 {source="ORDO:168816/ntbt", source="Orphanet:168816"}
xref: NCIT:C6536 {source="MONDO:equivalentTo", source="EFO:1000468"}
xref: Orphanet:168816 {source="MONDO:equivalentTo"}
xref: SCTID:716650003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.10"}
xref: UMLS:C1334818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6536"}
is_a: MONDO:0006362 {source="MONDOLEX:0006363", source="NCIT:C6536"} ! peritoneal mesothelioma (disease)
is_a: MONDO:0015683 {source="Orphanet:168816"} ! primary malignant peritoneal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206680
property_value: exactMatch http://identifiers.org/snomedct/716650003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334818
property_value: exactMatch NCIT:C6536
property_value: exactMatch Orphanet:168816

[Term]
id: MONDO:0006364
name: peritoneal well differentiated papillary mesothelioma
def: "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." [NCIT:C45661]
synonym: "peritoneal WDPM" EXACT [NCIT:C45661]
synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [NCIT:C45661]
xref: EFO:1000469 {source="MONDO:equivalentTo"}
xref: NCIT:C45661 {source="MONDO:equivalentTo", source="EFO:1000469", source="exact-label-match"}
xref: UMLS:C1709507 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45661"}
is_a: MONDO:0003688 {source="NCIT:C45661"} ! well differentiated papillary mesothelioma
is_a: MONDO:0006362 {source="MONDO:Redundant", source="NCIT:C45661"} ! peritoneal mesothelioma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709507
property_value: exactMatch NCIT:C45661

[Term]
id: MONDO:0006365
name: Peutz-Jeghers polyp
def: "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" [NCIT:P378]
synonym: "Peutz Jeghers polyp" EXACT [NCIT:C4733]
synonym: "Peutz-Jeghers polyp" EXACT [NCIT:C4733]
xref: EFO:1000470 {source="MONDO:equivalentTo"}
xref: NCIT:C4733 {source="EFO:1000470", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.86/1.98"}
is_a: MONDO:0006231 {source="NCIT:C4733"} ! gastrointestinal hamartoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0456487
property_value: exactMatch NCIT:C4733

[Term]
id: MONDO:0006366
name: Peutz-Jeghers polyp of the stomach
def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." [NCIT:P378]
synonym: "Gastric Peutz-Jeghers polyp" EXACT [NCIT:C36205]
xref: EFO:1000471 {source="MONDO:equivalentTo"}
xref: NCIT:C36205 {source="EFO:1000471", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/1.98"}
xref: UMLS:C1335398 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C36205"}
is_a: MONDO:0006224 ! gastric hamartomatous polyp
is_a: MONDO:0006365 ! Peutz-Jeghers polyp
relationship: excluded_subClassOf MONDO:0008280 {source="EFO:1000471"} ! Peutz-Jeghers syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335398
property_value: exactMatch NCIT:C36205

[Term]
id: MONDO:0006367
name: pharyngeal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the pharynx." [NCIT:C5818]
synonym: "adenoid cystic carcinoma of pharynx" EXACT [NCIT:C5818]
synonym: "adenoid cystic carcinoma of the pharynx" EXACT [NCIT:C5818]
synonym: "pharyngeal adenoid cystic carcinoma" EXACT [NCIT:C5818]
synonym: "pharyngeal throat adenoid cystic cancer" EXACT [NCIT:C5818]
synonym: "pharynx adenoid cystic carcinoma" EXACT [NCIT:C5818]
xref: EFO:1000472 {source="MONDO:equivalentTo"}
xref: NCIT:C5818 {source="EFO:1000472", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335399 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5818", source="MONDO:equivalentTo"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0004971 {source="EFO:1000472", source="MONDOLEX:0006367", source="NCIT:C5818"} ! adenoid cystic carcinoma
is_a: MONDO:0005517 {source="MONDO:Redundant", source="NCIT:C5818/inferred"} ! pharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C5818"} ! carcinoma of pharynx
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335399
property_value: exactMatch NCIT:C5818

[Term]
id: MONDO:0006368
name: phosphaturic mesenchymal tumor
def: "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." [NCIT:C67237]
synonym: "phosphaturic mesenchymal tumor" EXACT [NCIT:C67237]
synonym: "phosphaturic mesenchymal tumor, mixed connective tissue type" EXACT [NCIT:C67237]
synonym: "phosphaturic mesenchymal tumor, mixed connective tissue variant" RELATED [NCIT:C67237]
xref: EFO:1000473 {source="MONDO:equivalentTo"}
xref: NCIT:C67237 {source="EFO:1000473", source="MONDO:equivalentTo", source="NCIT:C67237"}
xref: UMLS:C1831619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C67237"}
is_a: MONDO:0005070 {source="EFO:1000473", source="MONDOLEX:0006368", source="NCIT:C67237/inferred"} ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1831619
property_value: exactMatch NCIT:C67237

[Term]
id: MONDO:0006369
name: pineal parenchymal tumor of intermediate differentiation
def: "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" [NCIT:C6967]
synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967]
synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030]
synonym: "pineal parenchymal tumors of intermediate differentiation" RELATED [GARD:0010644]
synonym: "pineal parenchymal tumour of intermediate differentiation" EXACT [DOID:5030]
synonym: "PPTID" RELATED [GARD:0010644, ONCOTREE:PPTID]
xref: DOID:5030 {source="MONDO:equivalentTo"}
xref: EFO:1000474 {source="MONDO:equivalentTo"}
xref: GARD:0010644 {source="shared-xref", source="MONDO:equivalentTo"}
xref: NCIT:C6967 {source="EFO:1000474", source="MONDO:equivalentTo", source="DOID:5030", source="exact-label-match"}
xref: ONCOTREE:PPTID {source="MONDO:equivalentTo"}
xref: SCTID:715904005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1367859 {source="MONDO:equivalentTo", source="DOID:5030", source="NCIT:C6967"}
is_a: MONDO:0024890 {source="NCIT:C6967"} ! pineal parenchymal cell neoplasm
relationship: excluded_subClassOf MONDO:0016722 {source="DOID:5030"} ! pineoblastoma
property_value: closeMatch http://identifiers.org/snomedct/31671006
property_value: closeMatch http://identifiers.org/snomedct/397379005
property_value: exactMatch DOID:5030
property_value: exactMatch http://identifiers.org/snomedct/715904005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367859
property_value: exactMatch NCIT:C6967

[Term]
id: MONDO:0006370
name: obsolete pineoblastoma
is_obsolete: true
replaced_by: MONDO:0016722

[Term]
id: MONDO:0006371
name: obsolete pineocytoma
is_obsolete: true
replaced_by: MONDO:0016723

[Term]
id: MONDO:0006372
name: pituicytoma
def: "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." [NCIT:C94524]
subset: ordo_disease {source="Orphanet:251623"}
synonym: "pituicytoma" EXACT [NCIT:C94524]
synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524]
synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524]
synonym: "PTCY" RELATED [ONCOTREE:PTCY]
xref: EFO:1000477 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251623/ntbt", source="Orphanet:251623"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9432/1 {source="NCIT:C94524"}
xref: NCIT:C94524 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000477"}
xref: ONCOTREE:PTCY {source="MONDO:equivalentTo"}
xref: Orphanet:251623 {source="MONDO:equivalentTo"}
xref: SCTID:608817003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2986550 {source="NCIT:C94524", source="MONDO:equivalentTo", source="Orphanet:251623", source="ORDO:251623/e"}
is_a: MONDO:0002109 ! pituitary cancer
is_a: MONDO:0003169 ! diencephalic astrocytomas
is_a: MONDO:0003257 {source="NCIT:C94524"} ! posterior pituitary gland neoplasm
is_a: MONDO:0016685 {source="Orphanet:251623", source="not supported by NCIT"} ! low-grade astrocytoma
property_value: exactMatch http://identifiers.org/snomedct/608817003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986550
property_value: exactMatch NCIT:C94524
property_value: exactMatch Orphanet:251623

[Term]
id: MONDO:0006373
name: pituitary gland adenoma
def: "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." [NCIT:C3329]
subset: ordo_group_of_disorders {source="Orphanet:99408"}
synonym: "adenoma of pituitary" EXACT [NCIT:C3329]
synonym: "adenoma of pituitary gland" EXACT [NCIT:C3329]
synonym: "adenoma of the pituitary" EXACT [NCIT:C3329]
synonym: "adenoma of the pituitary gland" EXACT [DOID:3829, NCIT:C3329]
synonym: "adenoma, anterior lobe pituitary gland, benign" EXACT [NCIT:C3329]
synonym: "pituitary adenoma" EXACT [MONDO:0020471, NCIT:C3329]
synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329]
synonym: "PTAD" RELATED [ONCOTREE:PTAD]
xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"}
xref: EFO:1000478 {source="MONDO:equivalentTo"}
xref: ICD10:D35.2 {source="ORDO:99408/ntbt", source="Orphanet:99408", source="MONDO:directSiblingOf"}
xref: ICDO:8272/0 {source="NCIT:C3329"}
xref: MedDRA:10035079 {source="ORDO:99408/e", source="EFO:1000478", source="Orphanet:99408"}
xref: NCIT:C3329 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"}
xref: OMIMPS:102200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ONCOTREE:PTAD {source="MONDO:equivalentTo"}
xref: Orphanet:99408 {source="MONDO:equivalentTo", source="EFO:1000478"}
xref: SCTID:254956000 {source="MONDO:equivalentTo", source="EFO:1000478", source="MONDO:kboom-pr-0.93/0.84/0.20", source="DOID:3829"}
xref: UMLS:C0032000 {source="ORDO:99408/e", source="MONDO:equivalentTo", source="Orphanet:99408", source="DOID:3829", source="NCIT:C3329"}
is_a: MONDO:0004972 {source="DOID:3829", source="EFO:1000478", source="MONDO:Redundant", source="NCIT:C3329", source="linkedlifedata"} ! adenoma
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C3329/inferred", source="Orphanet:99408", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pituitary tumor
relationship: disease_has_feature MONDO:0019833 {source="Orphanet:99408"} ! pituitary hormone deficiency from tumoral origin
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:3829", source="MONDO:Redundant", source="linkedlifedata"} ! benign endocrine neoplasm
property_value: closeMatch http://identifiers.org/mesh/D010911
property_value: closeMatch http://identifiers.org/snomedct/128664001
property_value: closeMatch http://identifiers.org/snomedct/154621002
property_value: closeMatch http://identifiers.org/snomedct/189178001
property_value: closeMatch http://identifiers.org/snomedct/269643009
property_value: closeMatch http://identifiers.org/snomedct/367095008
property_value: exactMatch DOID:3829
property_value: exactMatch http://identifiers.org/meddra/10035079
property_value: exactMatch http://identifiers.org/snomedct/254956000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032000
property_value: exactMatch NCIT:C3329
property_value: exactMatch Orphanet:99408

[Term]
id: MONDO:0006374
name: placental choriocarcinoma
def: "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." [NCIT:C8893]
synonym: "choriocarcinoma of placenta" RELATED [NCIT:C8893]
synonym: "choriocarcinoma of the placenta" EXACT [DOID:2024, NCIT:C8893]
synonym: "placenta choriocarcinoma" RELATED [NCIT:C8893]
synonym: "placenta choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "placental choriocarcinoma" EXACT [NCIT:C8893]
xref: DOID:2024 {source="MONDO:equivalentTo"}
xref: EFO:1000479 {source="MONDO:equivalentTo"}
xref: NCIT:C8893 {source="DOID:2024", source="MONDO:equivalentTo", source="EFO:1000479"}
xref: SCTID:448401007 {source="MONDO:kboom-pr-1.00/0.79/7.63", source="DOID:2024", source="MONDO:equivalentTo"}
xref: UMLS:C0855173 {source="DOID:2024", source="NCIT:C8893", source="MONDO:equivalentTo"}
is_a: MONDO:0002178 {source="DOID:2024/inferred", source="MONDO:Redundant", source="NCIT:C8893"} ! placenta cancer
is_a: MONDO:0020550 {source="DOID:2024", source="NCIT:C8893"} ! gestational choriocarcinoma
property_value: exactMatch DOID:2024
property_value: exactMatch http://identifiers.org/snomedct/448401007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855173
property_value: exactMatch NCIT:C8893

[Term]
id: MONDO:0006375
name: placental hemangioma
def: "A hemangioma arising from the fetal blood vessels in the placental villi." [NCIT:C4868]
synonym: "angioma of placenta" RELATED [NCIT:C4868]
synonym: "angioma of the placenta" RELATED [NCIT:C4868]
synonym: "Chorangioma" EXACT [NCIT:C4868]
synonym: "Chorangioma of the placenta" RELATED [NCIT:C4868]
synonym: "Chorangioma placentae" RELATED [NCIT:C4868]
synonym: "chorioangioma" EXACT [MONDO:0002421]
synonym: "hemangioma of placenta" EXACT []
synonym: "hemangioma of placenta" RELATED [NCIT:C4868]
synonym: "hemangioma of the placenta" RELATED [NCIT:C4868]
synonym: "placenta hemangioma" EXACT [MONDO:patterns/location]
synonym: "placental angioma" RELATED [NCIT:C4868]
synonym: "placental hemangioma" EXACT [DOID:277, NCIT:C4868]
xref: DOID:277 {source="MONDO:equivalentTo"}
xref: EFO:1000480 {source="MONDO:equivalentTo"}
xref: ICD9:219.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4868 {source="EFO:1000480", source="MONDO:equivalentTo", source="DOID:277", source="NCIT:C4868"}
xref: SCTID:237268002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:277"}
xref: UMLS:C0677608 {source="MONDO:equivalentTo", source="DOID:277", source="NCIT:C4868"}
is_a: MONDO:0006500 ! hemangioma
is_a: MONDO:0021498 {source="MONDO:Redundant", source="NCIT:C4868", source="linkedlifedata"} ! benign neoplasm of placenta
relationship: excluded_subClassOf MONDO:0002337 {source="DOID:277"} ! intra-abdominal hemangioma
property_value: closeMatch http://identifiers.org/snomedct/2099007
property_value: closeMatch http://identifiers.org/snomedct/699948001
property_value: exactMatch DOID:277
property_value: exactMatch http://identifiers.org/snomedct/237268002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677608
property_value: exactMatch NCIT:C4868

[Term]
id: MONDO:0006376
name: obsolete plantar fibromatosis
def: "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680]
is_obsolete: true
replaced_by: MONDO:0004684

[Term]
id: MONDO:0006377
name: pleural biphasic mesothelioma
def: "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." [NCIT:C45665]
synonym: "pleural biphasic mesothelioma" EXACT [NCIT:C45665]
xref: EFO:1000483 {source="MONDO:equivalentTo"}
xref: NCIT:C45665 {source="EFO:1000483", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1709570 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45665"}
is_a: MONDO:0006109 {source="MONDOLEX:0006377", source="NCIT:C45665"} ! malignant biphasic mesothelioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709570
property_value: exactMatch NCIT:C45665

[Term]
id: MONDO:0006378
name: pleural epithelioid mesothelioma
def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." [NCIT:C45662]
synonym: "malignant epithelioid mesothelioma of pleura" EXACT [MONDO:design_pattern]
synonym: "pleura malignant epithelioid mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural epithelioid mesothelioma" EXACT [NCIT:C45662]
xref: EFO:1000484 {source="MONDO:equivalentTo"}
xref: NCIT:C45662 {source="EFO:1000484", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1709574 {source="MONDO:equivalentTo", source="NCIT:C45662"}
is_a: MONDO:0005112 {source="MONDO:Redundant", source="NCIT:C45662"} ! malignant pleural mesothelioma
is_a: MONDO:0005599 {source="MONDO:Redundant", source="MONDOLEX:0006378", source="NCIT:C45662"} ! malignant epithelioid mesothelioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709574
property_value: exactMatch NCIT:C45662

[Term]
id: MONDO:0006379
name: obsolete pleural mesothelioma (disease)
is_obsolete: true
replaced_by: MONDO:0003308

[Term]
id: MONDO:0006380
name: pleural sarcomatoid mesothelioma
def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." [NCIT:C45663]
synonym: "pleura sarcomatoid mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural sarcomatoid mesothelioma" EXACT [NCIT:C45663]
synonym: "sarcomatoid mesothelioma of pleura" EXACT [MONDO:design_pattern]
xref: EFO:1000486 {source="MONDO:equivalentTo"}
xref: NCIT:C45663 {source="MONDO:equivalentTo", source="EFO:1000486", source="exact-label-match"}
xref: UMLS:C1709578 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45663"}
is_a: MONDO:0005112 {source="MONDO:Redundant", source="NCIT:C45663"} ! malignant pleural mesothelioma
is_a: MONDO:0006407 {source="MONDO:Redundant", source="NCIT:C45663"} ! sarcomatoid mesothelioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709578
property_value: exactMatch NCIT:C45663

[Term]
id: MONDO:0006381
name: plexiform ameloblastoma
def: "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." [NCIT:P378]
xref: EFO:1000487 {source="MONDO:equivalentTo"}
xref: NCIT:C39753 {source="EFO:1000487", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C0457529 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39753", source="MONDO:equivalentTo"}
is_a: MONDO:0017795 {source="NCIT:C39753/inferred"} ! ameloblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457529
property_value: exactMatch NCIT:C39753

[Term]
id: MONDO:0006382
name: poorly differentiated thyroid gland carcinoma
def: "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" [NCIT:C6040]
synonym: "insular carcinoma" EXACT [NCIT:C6040]
synonym: "poorly differentiated carcinoma of the thyroid gland" EXACT [NCIT:C6040]
synonym: "poorly differentiated carcinoma of thyroid gland" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid cancer" RELATED [ONCOTREE:THPD]
synonym: "poorly differentiated thyroid carcinoma" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid gland cancer" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid gland carcinoma" EXACT [NCIT:C6040]
synonym: "thyroid gland poorly differentiated carcinoma" EXACT [NCIT:C6040]
xref: EFO:1000489 {source="MONDO:equivalentTo"}
xref: ICDO:8337/3 {source="NCIT:C6040"}
xref: NCIT:C6040 {source="MONDO:equivalentTo", source="EFO:1000489", source="exact-label-match"}
xref: ONCOTREE:THPD {source="MONDO:equivalentTo"}
xref: UMLS:C1266050 {source="MONDO:equivalentTo", source="NCIT:C6040"}
is_a: MONDO:0004970 {source="EFO:1000489", source="NCIT:C6040/inferred"} ! adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266050
property_value: exactMatch NCIT:C6040

[Term]
id: MONDO:0006383
name: primary cutaneous diffuse large B-cell lymphoma, Leg type
def: "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." [NCIT:C45194]
subset: ordo_disease {source="Orphanet:178544"}
synonym: "PCDLBCL,LT" EXACT [Orphanet:178544]
synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815]
xref: EFO:1000490 {source="MONDO:equivalentTo"}
xref: ICD10:C83.3 {source="Orphanet:178544", source="ORDO:178544/ntbt"}
xref: ICDO:9680/3 {source="NCIT:C45194"}
xref: NCIT:C45194 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000490"}
xref: Orphanet:178544 {source="MONDO:equivalentTo"}
xref: UMLS:C1709656 {source="NCIT:C45194", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015818 {source="Orphanet:178544"} ! aggressive primary cutaneous B-cell lymphoma
is_a: MONDO:0018905 {source="EFO:1000490", source="NCIT:C45194/inferred"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709656
property_value: exactMatch NCIT:C45194
property_value: exactMatch Orphanet:178544

[Term]
id: MONDO:0006384
name: obsolete primary effusion lymphoma
is_obsolete: true
replaced_by: MONDO:0018842

[Term]
id: MONDO:0006385
name: primary intraosseous squamous cell carcinoma
def: "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." [NCIT:P378]
synonym: "PIOSCC" EXACT [NCIT:C54295]
xref: EFO:1000492 {source="MONDO:equivalentTo"}
xref: NCIT:C54295 {source="EFO:1000492", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1709663 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C54295", source="MONDO:equivalentTo"}
is_a: MONDO:0010150 {source="EFO:1000492", source="NCIT:C54295/inferred"} ! head and neck squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709663
property_value: exactMatch NCIT:C54295

[Term]
id: MONDO:0006386
name: primary peritoneal serous adenocarcinoma
def: "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." [doi:10.4103/2278-0513.157944]
synonym: "primary peritoneal serous adenocarcinoma" EXACT [NCIT:C40023]
xref: EFO:1000494 {source="MONDO:equivalentTo"}
xref: NCIT:C40023 {source="EFO:1000494", source="MONDO:equivalentTo"}
xref: UMLS:C1514429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40023"}
is_a: MONDO:0005278 {source="EFO:1000494", source="MONDOLEX:0006386", source="NCIT:C40023"} ! serous adenocarcinoma
is_a: MONDO:0015686 {source="NCIT:C40023"} ! primary peritoneal carcinoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514429
property_value: exactMatch NCIT:C40023

[Term]
id: MONDO:0006387
name: primary pulmonary diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." [NCIT:C45605]
synonym: "diffuse large B-cell lymphoma of lung" EXACT []
synonym: "high grade MALT lymphoma of the lung" EXACT [NCIT:C45605]
synonym: "lung diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605]
synonym: "pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605]
xref: EFO:1000495 {source="MONDO:equivalentTo"}
xref: NCIT:C45605 {source="EFO:1000495", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1709666 {source="NCIT:C45605", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0018905 {source="NCIT:C45605"} ! diffuse large B-cell lymphoma
is_a: MONDO:0020644 {source="NCIT:C45605"} ! lung non-Hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709666
property_value: exactMatch NCIT:C45605

[Term]
id: MONDO:0006388
name: prolactin-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." [NCIT:C5962]
synonym: "malignant pituitary gland prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant pituitary prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary gland neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary gland tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary gland tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of the pituitary gland" EXACT [NCIT:C5962]
synonym: "PRL producing pituitary gland carcinoma" EXACT [NCIT:C5962]
synonym: "prolactin producing pituitary gland carcinoma" EXACT [NCIT:C5962]
synonym: "prolactin-producing pituitary gland carcinoma" EXACT [NCIT:C5962]
xref: EFO:1000497 {source="MONDO:equivalentTo"}
xref: NCIT:C5962 {source="MONDO:kboom-pr-0.96/0.86/1.29", source="MONDO:equivalentTo", source="EFO:1000497"}
xref: UMLS:C1334614 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5962"}
is_a: MONDO:0003430 {source="MONDOLEX:0006388", source="NCIT:C5962"} ! prolactin producing pituitary tumor
is_a: MONDO:0017582 {source="MONDO:Redundant", source="MONDOLEX:0006388", source="NCIT:C5962"} ! pituitary adenocarcinoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334614
property_value: exactMatch NCIT:C5962

[Term]
id: MONDO:0006389
name: prostate rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." [NCIT:C5522]
synonym: "prostate gland rhabdomyosarcoma" EXACT []
synonym: "prostate gland rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate rhabdomyosarcoma" EXACT [NCIT:C5522]
synonym: "rhabdomyosarcoma (disease) of prostate gland" EXACT []
synonym: "rhabdomyosarcoma of prostate" EXACT [NCIT:C5522]
synonym: "rhabdomyosarcoma of the prostate" EXACT [DOID:3252, NCIT:C5522]
xref: DOID:3252 {source="MONDO:equivalentTo"}
xref: EFO:1000498 {source="MONDO:equivalentTo"}
xref: NCIT:C5522 {source="EFO:1000498", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3252"}
xref: UMLS:C1335518 {source="MONDO:equivalentTo", source="NCIT:C5522", source="DOID:3252"}
is_a: MONDO:0002854 {source="DOID:3252", source="MONDO:Redundant", source="NCIT:C5522", source="OWLReasoner:2017"} ! prostate sarcoma
is_a: MONDO:0005212 {source="DOID:3252", source="EFO:1000498", source="MONDO:Redundant", source="NCIT:C5522"} ! rhabdomyosarcoma (disease)
property_value: exactMatch DOID:3252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335518
property_value: exactMatch NCIT:C5522

[Term]
id: MONDO:0006390
name: prostate small cell carcinoma
def: "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." [NCIT:C6766]
comment: Editor note: DO classifies as lung oat cell carcinoma
synonym: "Oat cell carcinoma of prostate" EXACT [NCIT:C6766]
synonym: "Oat cell carcinoma of the prostate" EXACT [NCIT:C6766]
synonym: "prostate gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate Oat cell carcinoma" EXACT [NCIT:C6766]
synonym: "prostate oat cell carcinoma" EXACT [DOID:7141, NCIT:C6766]
synonym: "prostate small cell carcinoma" EXACT [NCIT:C6766]
synonym: "prostate small cell NEC" EXACT [NCIT:C6766]
synonym: "prostate small cell neuroendocrine carcinoma" EXACT [NCIT:C6766]
synonym: "PRSCC" RELATED [ONCOTREE:PRSCC]
synonym: "small cell carcinoma of prostate" EXACT [NCIT:C6766]
synonym: "small cell carcinoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of the prostate" EXACT [NCIT:C6766]
xref: DOID:7141 {source="MONDO:equivalentTo"}
xref: EFO:1000499 {source="MONDO:equivalentTo"}
xref: NCIT:C6766 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000499", source="DOID:7141", source="exact-label-match"}
xref: ONCOTREE:PRSCC {source="MONDO:equivalentTo"}
xref: SCTID:396198006 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7141", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1300585 {source="MONDO:equivalentTo", source="NCIT:C6766", source="DOID:7141"}
is_a: MONDO:0000402 {source="DOID:7141/inferred", source="MONDO:Redundant", source="MONDOLEX:0006390", source="NCIT:C6766", source="linkedlifedata"} ! small cell carcinoma
is_a: MONDO:0002477 {source="MONDO:Redundant", source="NCIT:C6766"} ! prostate neuroendocrine neoplasm
is_a: MONDO:0005159 {source="DOID:7141", source="EFO:1000499", source="MONDO:Redundant", source="MONDOLEX:0006390", source="NCIT:C6766/inferred"} ! prostate carcinoma
property_value: exactMatch DOID:7141
property_value: exactMatch http://identifiers.org/snomedct/396198006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300585
property_value: exactMatch NCIT:C6766

[Term]
id: MONDO:0006391
name: pyloric gland adenoma
def: "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." [NCIT:C43526]
synonym: "pyloric gastric gland adenoma" EXACT [MONDO:patterns/location]
synonym: "pyloric gland adenoma" EXACT [NCIT:C43526]
xref: EFO:1000501 {source="MONDO:equivalentTo"}
xref: NCIT:C43526 {source="MONDO:equivalentTo", source="EFO:1000501"}
xref: UMLS:C1709780 {source="NCIT:C43526", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006221 {source="MONDO:Redundant", source="NCIT:C43526/inferred", source="OWLReasoner:2017"} ! gastric adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709780
property_value: exactMatch NCIT:C43526

[Term]
id: MONDO:0006392
name: rectal hyperplastic polyp
def: "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." [NCIT:P378]
synonym: "hyperplastic polyp of rectum" EXACT [NCIT:C5619]
synonym: "hyperplastic polyp of the rectum" EXACT [NCIT:C5619]
synonym: "rectal Hp" EXACT [NCIT:C5619]
synonym: "rectal metaplastic polyp" EXACT [NCIT:C5619]
synonym: "rectal MP" EXACT [NCIT:C5619]
xref: EFO:1000502 {source="MONDO:equivalentTo"}
xref: NCIT:C5619 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000502"}
xref: UMLS:C1335679 {source="NCIT:C5619", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021398 {source="MONDO:Redundant", source="NCIT:C5619"} ! polyp of rectum
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335679
property_value: exactMatch NCIT:C5619

[Term]
id: MONDO:0006393
name: rectal traditional serrated adenoma
def: "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." [NCIT:C96463]
synonym: "rectal serrated adenoma" EXACT [NCIT:C96463]
synonym: "rectal serrated adenoma type II" EXACT [NCIT:C96463]
synonym: "rectal traditional serrated adenoma" EXACT [NCIT:C96463]
synonym: "rectal TSA" EXACT [NCIT:C96463]
xref: EFO:1000503 {source="MONDO:equivalentTo"}
xref: NCIT:C96463 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000503"}
xref: UMLS:C3272790 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96463"}
is_a: MONDO:0000530 {source="NCIT:C96463"} ! rectum adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272790
property_value: exactMatch NCIT:C96463

[Term]
id: MONDO:0006394
name: rectal tubular adenoma
def: "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C96477]
synonym: "rectal tubular adenoma" EXACT [NCIT:C96477]
xref: EFO:1000504 {source="MONDO:equivalentTo"}
xref: NCIT:C96477 {source="MONDO:equivalentTo", source="EFO:1000504", source="exact-label-match"}
xref: UMLS:C3272804 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96477"}
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C96477"} ! rectum adenoma
is_a: MONDO:0024660 ! tubular adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272804
property_value: exactMatch NCIT:C96477

[Term]
id: MONDO:0006395
name: rectal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5620]
synonym: "rectal tubulovillous adenoma" EXACT [NCIT:C5620]
synonym: "rectal Villotubular adenoma" EXACT [NCIT:C5620]
synonym: "tubulovillous adenoma of rectum" EXACT [NCIT:C5620]
synonym: "tubulovillous adenoma of the rectum" EXACT [NCIT:C5620]
synonym: "Villotubular adenoma of rectum" EXACT [NCIT:C5620]
synonym: "Villotubular adenoma of the rectum" EXACT [NCIT:C5620]
xref: EFO:1000505 {source="MONDO:equivalentTo"}
xref: NCIT:C5620 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000505"}
xref: SCTID:448428002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1335691 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5620"}
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C5620", source="linkedlifedata"} ! rectum adenoma
is_a: MONDO:0024662 ! colorectal tubulovillous adenoma
property_value: exactMatch http://identifiers.org/snomedct/448428002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335691
property_value: exactMatch NCIT:C5620

[Term]
id: MONDO:0006396
name: rectal villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C4919]
synonym: "rectal villous adenoma" EXACT [NCIT:C4919]
synonym: "rectum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of rectum" EXACT [NCIT:C4919]
synonym: "villous adenoma of the rectum" EXACT [NCIT:C4919]
xref: EFO:1000506 {source="MONDO:equivalentTo"}
xref: NCIT:C4919 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000506"}
xref: SCTID:312823001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0730199 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4919", source="MONDO:equivalentTo"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="MONDOLEX:0006396", source="NCIT:C4919/inferred", source="OWLReasoner:2017"} ! villous adenoma
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C4919", source="linkedlifedata"} ! rectum adenoma
property_value: exactMatch http://identifiers.org/snomedct/312823001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730199
property_value: exactMatch NCIT:C4919

[Term]
id: MONDO:0006397
name: renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions
def: "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." [NCIT:C27891]
synonym: "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions" EXACT [NCIT:C27891]
synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [NCIT:C27891]
synonym: "TFE3-Rearranged renal cell carcinoma" EXACT [NCIT:C27891]
synonym: "translocation-associated renal cell carcinoma" RELATED [ONCOTREE:TRCC]
synonym: "tRCC" EXACT [NCIT:C27891]
synonym: "Xp11.2 translocation-related renal cell carcinoma" EXACT [NCIT:C27891]
xref: EFO:1000508 {source="MONDO:equivalentTo"}
xref: ICDO:0000/0 {source="NCIT:C27891"}
xref: NCIT:C27891 {source="EFO:1000508", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:TRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1337036 {source="NCIT:C27891", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005549 {source="MONDOLEX:0006397", source="NCIT:C27891"} ! renal cell adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337036
property_value: exactMatch NCIT:C27891

[Term]
id: MONDO:0006398
name: retroperitoneal inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39741]
synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [NCIT:C39741]
synonym: "retroperitoneal space inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location]
xref: EFO:1000510 {source="MONDO:equivalentTo"}
xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="exact-label-match"}
xref: UMLS:C1514921 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39741", source="MONDO:equivalentTo"}
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39741"} ! inflammatory myofibroblastic tumor
is_a: MONDO:0024645 ! retroperitoneal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1514921
property_value: exactMatch NCIT:C39741

[Term]
id: MONDO:0006399
name: obsolete rhabdoid tumor of the kidney
is_obsolete: true
replaced_by: MONDO:0002729

[Term]
id: MONDO:0006400
name: salivary gland acinic cell carcinoma
def: "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." [NCIT:P378]
synonym: "acinic cell carcinoma of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell carcinoma of the salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell neoplasm of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell neoplasm of the salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell tumor of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell tumor of the salivary gland" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell cancer" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell neoplasm" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell tumor" EXACT [NCIT:C8013]
xref: EFO:1000513 {source="MONDO:equivalentTo"}
xref: NCIT:C8013 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000513"}
xref: UMLS:C0279738 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8013", source="MONDO:equivalentTo"}
is_a: MONDO:0004965 {source="MONDO:Redundant", source="MONDOLEX:0006400", source="NCIT:C8013"} ! acinar cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279738
property_value: exactMatch NCIT:C8013

[Term]
id: MONDO:0006401
name: salivary gland adenosquamous carcinoma
def: "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." [NCIT:C35737]
synonym: "saliva-secreting gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland adenosquamous carcinoma" EXACT [NCIT:C35737]
xref: EFO:1000514 {source="MONDO:equivalentTo"}
xref: NCIT:C35737 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000514"}
xref: UMLS:C1335894 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35737"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="MONDOLEX:0006401", source="NCIT:C35737"} ! adenosquamous carcinoma
is_a: MONDO:0044740 ! salivary gland squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335894
property_value: exactMatch NCIT:C35737

[Term]
id: MONDO:0006402
name: salivary gland basal cell adenocarcinoma
def: "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." [NCIT:C3678]
synonym: "basal cell adenocarcinoma" EXACT [NCIT:C3678]
synonym: "basal cell adenocarcinoma of salivary gland" EXACT [NCIT:C3678]
synonym: "basal cell adenocarcinoma of the salivary gland" EXACT [NCIT:C3678]
synonym: "saliva-secreting gland skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland basal cell adenocarcinoma" EXACT [NCIT:C3678]
synonym: "skin basal cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern]
xref: EFO:1000515 {source="MONDO:equivalentTo"}
xref: ICDO:8147/3 {source="NCIT:C3678"}
xref: NCIT:C3678 {source="MONDO:equivalentTo", source="EFO:1000515"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0006402", source="NCIT:C3678/inferred"} ! salivary gland carcinoma
is_a: MONDO:0004970 {source="EFO:1000515", source="MONDOLEX:0006402", source="NCIT:C3678/inferred"} ! adenocarcinoma
is_a: MONDO:0005341 {source="EFO:1000515", source="MONDO:Redundant", source="MONDOLEX:0006402"} ! skin basal cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205641
property_value: exactMatch NCIT:C3678

[Term]
id: MONDO:0006403
name: salivary gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C40410]
comment: Editor note: DO class placed here as it denotes a salivary gland specific form
synonym: "carcinoma ex pleomorphic adenoma" EXACT EXCLUDE [DOID:297]
synonym: "carcinoma in pleomorphic adenoma" EXACT EXCLUDE [DOID:297]
synonym: "pleomorphic adenoma carcinoma" RELATED [DOID:297]
synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [NCIT:C40410]
xref: DOID:297 {source="MONDO:equivalentTo"}
xref: EFO:1000516 {source="MONDO:equivalentTo"}
xref: NCIT:C40410 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000516"}
xref: UMLS:C1519172 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40410"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0006403", source="NCIT:C40410"} ! salivary gland carcinoma
is_a: MONDO:0002472 {source="MONDO:Redundant", source="MONDOLEX:0006403", source="NCIT:C40410"} ! carcinoma ex pleomorphic adenoma
property_value: exactMatch DOID:297
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519172
property_value: exactMatch NCIT:C40410

[Term]
id: MONDO:0006404
name: salivary gland large cell carcinoma
def: "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." [NCIT:C35735]
synonym: "large cell salivary gland carcinoma" EXACT [NCIT:C35735]
synonym: "large cell undifferentiated salivary gland carcinoma" EXACT [NCIT:C35735]
synonym: "saliva-secreting gland large cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland large cell carcinoma" EXACT [NCIT:C35735]
xref: EFO:1000517 {source="MONDO:equivalentTo"}
xref: NCIT:C35735 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000517"}
xref: UMLS:C2111671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35735"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0006404", source="NCIT:C35735/inferred"} ! salivary gland carcinoma
is_a: MONDO:0005232 {source="MONDO:Redundant", source="MONDOLEX:0006404", source="NCIT:C35735"} ! large cell carcinoma
is_a: MONDO:0005617 {source="EFO:1000517", source="NCIT:C35735/inferred"} ! undifferentiated carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2111671
property_value: exactMatch NCIT:C35735

[Term]
id: MONDO:0006405
name: salivary gland small cell carcinoma
def: "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." [NCIT:C35703]
synonym: "anaplastic small cell carcinoma of salivary gland" EXACT [NCIT:C35703]
synonym: "anaplastic small cell carcinoma of the salivary gland" EXACT [NCIT:C35703]
synonym: "neuroendocrine carcinoma of salivary gland" EXACT [NCIT:C35703]
synonym: "neuroendocrine carcinoma of the salivary gland" EXACT [NCIT:C35703]
synonym: "saliva-secreting gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland anaplastic small cell carcinoma" EXACT [NCIT:C35703]
synonym: "salivary gland neuroendocrine carcinoma" EXACT [NCIT:C35703]
synonym: "salivary gland small cell carcinoma" EXACT [NCIT:C35703]
synonym: "small cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern]
synonym: "small cell salivary gland carcinoma" EXACT [NCIT:C35703]
xref: EFO:1000519 {source="MONDO:equivalentTo"}
xref: NCIT:C35703 {source="EFO:1000519", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1335982 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35703"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="MONDOLEX:0006405", source="NCIT:C35703"} ! small cell carcinoma
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0006405", source="NCIT:C35703"} ! salivary gland carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335982
property_value: exactMatch NCIT:C35703

[Term]
id: MONDO:0006406
name: sarcomatoid carcinoma
def: "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." [NCIT:C27004]
synonym: "carcinoma, spindle cell, malignant" EXACT [NCIT:C27004]
synonym: "pseudosarcomatous carcinoma" EXACT [NCIT:C27004]
synonym: "sarcomatoid carcinoma" EXACT [DOID:4015, NCIT:C27004]
synonym: "spindle cell carcinoma" EXACT [MONDO:0002838, NCIT:C27004]
synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [DOID:4015]
xref: DOID:4015 {source="MONDO:equivalentTo"}
xref: EFO:1000520 {source="MONDO:equivalentTo"}
xref: ICDO:8032/3 {source="NCIT:C27004"}
xref: ICDO:8033/3 {source="NCIT:C27004"}
xref: NCIT:C27004 {source="DOID:4015", source="EFO:1000520", source="MONDO:equivalentTo"}
xref: UMLS:C0205697 {source="DOID:4015", source="NCIT:C27004", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="DOID:4015/inferred", source="EFO:1000520", source="MONDOLEX:0006406", source="NCIT:C27004"} ! carcinoma
is_a: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer
relationship: excluded_subClassOf MONDO:0005096 {source="DOID:4015"} ! squamous cell carcinoma
property_value: closeMatch http://identifiers.org/snomedct/23109009
property_value: closeMatch http://identifiers.org/snomedct/65692009
property_value: exactMatch DOID:4015
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205697
property_value: exactMatch NCIT:C27004

[Term]
id: MONDO:0006407
name: sarcomatoid mesothelioma
def: "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." [NCIT:C45655]
synonym: "malignant fibrous mesothelioma" EXACT [DOID:4488, NCIT:C6747]
synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [DOID:4488]
synonym: "sarcomatoid mesothelioma" EXACT [NCIT:C45655]
synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [DOID:4488]
synonym: "spindled mesothelioma" EXACT [DOID:4488]
xref: DOID:4488 {source="MONDO:equivalentTo"}
xref: EFO:1000521 {source="MONDO:equivalentTo"}
xref: NCIT:C45655 {source="DOID:4488", source="MONDO:equivalentTo", source="EFO:1000521", source="exact-label-match"}
xref: UMLS:C0334513 {source="DOID:4488", source="MONDO:equivalentTo", source="NCIT:C45655"}
is_a: MONDO:0006292 {source="DOID:4488", source="NCIT:C45655/inferred"} ! malignant mesothelioma (disease)
property_value: closeMatch http://identifiers.org/snomedct/209241006
property_value: closeMatch http://identifiers.org/snomedct/399477001
property_value: closeMatch http://identifiers.org/snomedct/54443001
property_value: exactMatch DOID:4488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334513
property_value: exactMatch NCIT:C45655

[Term]
id: MONDO:0006408
name: sex hormone-producing adrenal cortex adenoma
def: "A rare adenoma of the adrenal cortex that produces androgens or estrogens." [NCIT:P378]
synonym: "Sex hormone producing adrenal cortex adenoma" EXACT [NCIT:C48452]
synonym: "Sex hormone producing adrenal cortical adenoma" EXACT [NCIT:C48452]
xref: EFO:1000523 {source="MONDO:equivalentTo"}
xref: NCIT:C48452 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000523"}
xref: UMLS:C1710067 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C48452", source="MONDO:equivalentTo"}
is_a: MONDO:0003924 {source="MONDOLEX:0006408", source="NCIT:C48452"} ! adrenal cortex adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710067
property_value: exactMatch NCIT:C48452

[Term]
id: MONDO:0006409
name: signet ring cell gastric adenocarcinoma
def: "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." [NCIT:C5250]
synonym: "gastric signet Ring cell adenocarcinoma" EXACT [NCIT:C5250]
synonym: "gastric signet ring cell adenocarcinoma" EXACT [MONDO:0004437]
synonym: "signet Ring cell adenocarcinoma of stomach" EXACT [NCIT:C5250]
synonym: "signet Ring cell adenocarcinoma of the stomach" EXACT [DOID:8025, NCIT:C5250]
synonym: "signet ring cell carcinoma of the stomach" RELATED [ONCOTREE:SSRCC]
synonym: "signet ring cell gastric adenocarcinoma" EXACT [NCIT:C5250]
synonym: "signet Ring cell stomach adenocarcinoma" EXACT [NCIT:C5250]
xref: DOID:8025 {source="MONDO:equivalentTo"}
xref: EFO:1000524 {source="MONDO:equivalentTo"}
xref: NCIT:C5250 {source="MONDO:equivalentTo", source="EFO:1000524", source="MONDO:kboom-pr-0.93/0.86/0.11", source="DOID:8025"}
xref: ONCOTREE:SSRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1335965 {source="NCIT:C5250", source="MONDO:equivalentTo", source="DOID:8025"}
is_a: MONDO:0005036 {source="DOID:8025/inferred", source="EFO:1000524", source="MONDO:Redundant", source="NCIT:C5250/inferred"} ! gastric adenocarcinoma
is_a: MONDO:0005092 {source="EFO:1000524", source="MONDOLEX:0006409", source="NCIT:C5250"} ! signet ring cell carcinoma
relationship: excluded_subClassOf MONDO:0005017 {source="DOID:8025"} ! diffuse gastric adenocarcinoma
property_value: exactMatch DOID:8025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335965
property_value: exactMatch NCIT:C5250

[Term]
id: MONDO:0006410
name: simple endometrial hyperplasia
def: "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." [NCIT:P378]
xref: COHD:199886 {source="MONDO:equivalentTo"}
xref: EFO:1000525 {source="MONDO:equivalentTo"}
xref: ICD9:621.31 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35463 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000525"}
xref: SCTID:198324001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0456483 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35463", source="MONDO:equivalentTo"}
is_a: MONDO:0005043 {source="EFO:1000525", source="NCIT:C35463/inferred"} ! hyperplasia
is_a: MONDO:0041161 {source="NCIT:C35463", source="linkedlifedata/inferred"} ! endometrial hyperplasia
property_value: exactMatch http://identifiers.org/snomedct/198324001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456483
property_value: exactMatch NCIT:C35463

[Term]
id: MONDO:0006411
name: sinonasal undifferentiated carcinoma
def: "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." [NCIT:C54294]
subset: gard_rare {source="GARD:0009249"}
synonym: "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" RELATED [GARD:0009249]
synonym: "Sinonasal anaplastic carcinoma" EXACT [NCIT:C54294]
synonym: "sinonasal undifferentiated carcinoma" EXACT [NCIT:C54294]
synonym: "SNUC" RELATED [GARD:0009249, ONCOTREE:SNUC]
synonym: "undifferentiated Sinonasal cancer" EXACT [NCIT:C54294]
xref: EFO:1000527 {source="MONDO:equivalentTo"}
xref: GARD:0009249 {source="MONDO:equivalentTo"}
xref: MESH:C537344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C54294 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000527"}
xref: ONCOTREE:SNUC {source="MONDO:equivalentTo"}
xref: SCTID:697993003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.04"}
xref: UMLS:C1710096 {source="NCIT:C54294", source="MONDO:equivalentTo", source="GARD:0009249"}
is_a: MONDO:0005617 {source="EFO:1000527", source="MONDOLEX:0006411", source="NCIT:C54294"} ! undifferentiated carcinoma
property_value: exactMatch http://identifiers.org/mesh/C537344
property_value: exactMatch http://identifiers.org/snomedct/697993003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710096
property_value: exactMatch NCIT:C54294
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma xsd:anyURI {source="GARD:0009249"}

[Term]
id: MONDO:0006412
name: sinus histiocytosis with massive lymphadenopathy
def: "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." [NCIT:P378]
synonym: "RDD" RELATED [GARD:0007588]
synonym: "Rosai-Dorfman disease" EXACT [NCIT:C36075]
xref: EFO:1000528 {source="MONDO:equivalentTo"}
xref: GARD:0007588 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36075 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000528"}
xref: SCTID:34287003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005833 {source="EFO:1000528", source="MESH:D015618/inferred"} ! lymphatic system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019625
property_value: exactMatch http://identifiers.org/mesh/D015618
property_value: exactMatch http://identifiers.org/snomedct/34287003
property_value: exactMatch NCIT:C36075

[Term]
id: MONDO:0006414
name: skin sarcoma
def: "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." [NCIT:C5585]
synonym: "cutaneous sarcoma" EXACT [DOID:2687, NCIT:C5585]
synonym: "sarcoma of skin" EXACT [NCIT:C5585]
synonym: "sarcoma of the skin" EXACT [NCIT:C5585]
synonym: "sarcoma of zone of skin" EXACT [MONDO:patterns/sarcoma]
synonym: "skin sarcoma" EXACT [NCIT:C5585]
synonym: "zone of skin sarcoma" EXACT [MONDO:patterns/location]
xref: DOID:2687 {source="MONDO:equivalentTo"}
xref: EFO:1000531 {source="MONDO:equivalentTo"}
xref: NCIT:C5585 {source="EFO:1000531", source="MONDO:equivalentTo", source="DOID:2687", source="exact-label-match"}
xref: UMLS:C0856900 {source="NCIT:C5585", source="MONDO:equivalentTo", source="DOID:2687"}
is_a: MONDO:0003363 {source="NCIT:C5585"} ! malignant dermis tumor
is_a: MONDO:0018078 {source="NCIT:C5585"} ! soft tissue sarcoma
property_value: exactMatch DOID:2687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856900
property_value: exactMatch NCIT:C5585

[Term]
id: MONDO:0006415
name: obsolete small intestinal adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0003198

[Term]
id: MONDO:0006416
name: small intestinal Burkitt lymphoma
def: "A Burkitt lymphoma that arises from the small intestine." [NCIT:C27409]
synonym: "Burkitt lymphoma of small intestine" EXACT []
synonym: "Burkitts lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "primary small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestinal Burkitt lymphoma" EXACT [NCIT:C27409]
synonym: "small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestine Burkitt lymphoma" EXACT [MONDO:patterns/location, NCIT:C27409]
synonym: "small intestine Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestine Burkitts lymphoma" EXACT [MONDO:patterns/location]
xref: EFO:1000533 {source="MONDO:equivalentTo"}
xref: NCIT:C27409 {source="MONDO:equivalentTo", source="EFO:1000533", source="exact-label-match"}
xref: UMLS:C1335991 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27409"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C27409/inferred", source="OWLReasoner:2017"} ! small intestine lymphoma
is_a: MONDO:0007243 {source="EFO:1000533", source="MONDO:Redundant", source="NCIT:C27409"} ! Burkitt lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335991
property_value: exactMatch NCIT:C27409

[Term]
id: MONDO:0006417
name: small intestinal diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the small intestine." [NCIT:C96055]
synonym: "diffuse large B-cell lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [NCIT:C96055]
synonym: "small intestine diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
xref: EFO:1000534 {source="MONDO:equivalentTo"}
xref: NCIT:C96055 {source="MONDO:equivalentTo", source="EFO:1000534", source="exact-label-match"}
xref: UMLS:C3272522 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96055"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C96055/inferred", source="OWLReasoner:2017"} ! small intestine lymphoma
is_a: MONDO:0018905 {source="EFO:1000534", source="MONDO:Redundant", source="NCIT:C96055"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272522
property_value: exactMatch NCIT:C96055

[Term]
id: MONDO:0006418
name: small intestinal enteropathy-associated T-cell lymphoma
def: "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." [NCIT:P378]
synonym: "enteropathy-associated T-cell lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "small intestinal EATL" EXACT [NCIT:C39610]
synonym: "small intestinal enteropathy-type T-cell lymphoma" EXACT [NCIT:C39610]
synonym: "small intestine enteropathy-associated T-cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000535 {source="MONDO:equivalentTo"}
xref: NCIT:C39610 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000535"}
xref: UMLS:C1519371 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39610", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0001852 ! small intestine lymphoma
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0019473 {source="MONDO:Redundant", source="MONDOLEX:0006418", source="NCIT:C39610"} ! enteropathy-associated T-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519371
property_value: exactMatch NCIT:C39610

[Term]
id: MONDO:0006419
name: small intestinal intraepithelial neoplasia
def: "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." [NCIT:C27462]
synonym: "small intestinal dysplasia" EXACT [NCIT:C27462]
synonym: "small intestinal intraepithelial neoplasia" EXACT [NCIT:C27462]
xref: EFO:1000536 {source="MONDO:equivalentTo"}
xref: NCIT:C27462 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000536"}
xref: UMLS:C1335999 {source="NCIT:C27462", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C27462"} ! small intestine neoplasm
is_a: MONDO:0005335 {source="EFO:1000536"} ! colorectal neoplasm
is_a: MONDO:0024474 ! intraepithelial neoplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335999
property_value: exactMatch NCIT:C27462

[Term]
id: MONDO:0006420
name: small intestinal mucosa-associated lymphoid tissue lymphoma
def: "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." [NCIT:C5635]
synonym: "MALT lymphoma of small bowel" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of small intestine" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of the small bowel" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of the small intestine" EXACT [NCIT:C5635]
synonym: "MALToma of small bowel" EXACT [NCIT:C5635]
synonym: "MALToma of small intestine" EXACT [NCIT:C5635]
synonym: "MALToma of the small bowel" EXACT [NCIT:C5635]
synonym: "MALToma of the small intestine" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of small bowel" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of small intestine" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of the small bowel" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of the small intestine" EXACT [NCIT:C5635]
synonym: "small bowel MALT lymphoma" EXACT [NCIT:C5635]
synonym: "small bowel MALToma" EXACT [NCIT:C5635]
synonym: "small bowel mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
synonym: "small intestinal mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
synonym: "small intestine MALT lymphoma" EXACT [MONDO:patterns/location, NCIT:C5635]
synonym: "small intestine MALToma" EXACT [NCIT:C5635]
synonym: "small intestine mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
xref: EFO:1000537 {source="MONDO:equivalentTo"}
xref: NCIT:C5635 {source="MONDO:equivalentTo", source="EFO:1000537", source="exact-label-match"}
xref: UMLS:C1336004 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5635"}
is_a: MONDO:0001852 ! small intestine lymphoma
is_a: MONDO:0007650 {source="MONDO:Redundant", source="MONDOLEX:0006420", source="NCIT:C5635"} ! MALT lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336004
property_value: exactMatch NCIT:C5635

[Term]
id: MONDO:0006421
name: small intestinal tubular adenoma
def: "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C43552]
xref: EFO:1000538 {source="MONDO:equivalentTo"}
xref: NCIT:C43552 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000538"}
xref: UMLS:C1710112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43552"}
is_a: MONDO:0021303 ! adenoma of small intestine
is_a: MONDO:0024660 ! tubular adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710112
property_value: exactMatch NCIT:C43552

[Term]
id: MONDO:0006422
name: small intestinal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C43553]
xref: EFO:1000539 {source="MONDO:equivalentTo"}
xref: NCIT:C43553 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000539"}
xref: UMLS:C1710113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43553"}
is_a: MONDO:0021303 ! adenoma of small intestine
is_a: MONDO:0024661 {source="MONDO:Redundant", source="MONDOLEX:0006422", source="NCIT:C43553"} ! tubulovillous adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710113
property_value: exactMatch NCIT:C43553

[Term]
id: MONDO:0006423
name: soft tissue chondroma
alt_id: MONDO:0002780
def: "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." [NCIT:C9482]
synonym: "chondroma of soft parts" EXACT [NCIT:C9482]
synonym: "extraskeletal chondroma" EXACT [NCIT:C9482]
synonym: "extraskeletal osteochondroma" EXACT [NCIT:C9482]
synonym: "soft tissue chondroma" EXACT [NCIT:C9482]
xref: DOID:3814 {source="MONDO:equivalentTo"}
xref: EFO:1000540 {source="MONDO:equivalentTo"}
xref: NCIT:C9482 {source="EFO:1000540", source="MONDO:equivalentTo"}
xref: SCTID:404078000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1275277 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9482"}
is_a: MONDO:0002360 {source="NCIT:C9482"} ! chondroma
is_a: MONDO:0044335 {source="NCIT:C9482/inferred", source="linkedlifedata"} ! benign soft tissue neoplasm
property_value: exactMatch DOID:3814
property_value: exactMatch http://identifiers.org/snomedct/404078000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275277
property_value: exactMatch NCIT:C9482

[Term]
id: MONDO:0006424
name: soft tissue neoplasm
def: "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." [NCIT:C3377]
synonym: "neoplasm of soft tissue" EXACT [NCIT:C3377]
synonym: "neoplasm of the soft tissue" EXACT [NCIT:C3377]
synonym: "soft tissue neoplasm" EXACT [NCIT:C3377]
synonym: "soft tissue neoplasm, NOS" RELATED EXCLUDE [NCIT:C3377]
synonym: "soft tissue tumor" EXACT [NCIT:C3377]
synonym: "soft tissue tumors" EXACT [NCIT:C3377]
synonym: "SOFTTISSUE" RELATED [ONCOTREE:SOFTTISSUE]
synonym: "tumor of soft tissue" EXACT [NCIT:C3377]
synonym: "tumor of the soft tissue" EXACT [NCIT:C3377]
xref: EFO:1000541 {source="MONDO:equivalentTo"}
xref: NCIT:C3377 {source="MONDO:equivalentTo", source="EFO:1000541", source="MONDO:kboom-pr-0.93/0.86/0.13"}
xref: ONCOTREE:SOFTTISSUE {source="MONDO:equivalentTo"}
xref: SCTID:387837005 {source="MONDO:equivalentTo"}
is_a: MONDO:0044334 {source="NCIT:C3377"} ! connective and soft tissue neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0225317
property_value: closeMatch NCIT:C12471
property_value: exactMatch http://identifiers.org/snomedct/387837005
property_value: exactMatch NCIT:C3377

[Term]
id: MONDO:0006425
name: obsolete spinal chordoma
is_obsolete: true
replaced_by: MONDO:0002894

[Term]
id: MONDO:0006426
name: spinal cord primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." [NCIT:C5406]
synonym: "primitive neuroectodermal neoplasm of spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal neoplasm of the spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal tumor of spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal tumor of the spinal cord" EXACT [NCIT:C5406]
synonym: "spinal cord embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5406]
synonym: "spinal cord embryonal tumor, not otherwise specified" RELATED EXCLUDE [MONDO:0004025, NCIT:C5406]
synonym: "spinal cord PNET" EXACT [DOID:6872, NCIT:C5406]
synonym: "spinal cord primitive neuroectodermal neoplasm" EXACT [NCIT:C5406]
synonym: "spinal cord primitive neuroectodermal tumor" EXACT [NCIT:C5406]
xref: DOID:6872 {source="MONDO:equivalentTo"}
xref: EFO:1000545 {source="MONDO:equivalentTo"}
xref: NCIT:C5406 {source="DOID:6872", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="EFO:1000545"}
xref: UMLS:C1336048 {source="DOID:6872", source="MONDO:equivalentTo"}
is_a: MONDO:0000640 {source="DOID:6872", source="MONDO:Redundant", source="NCIT:C5406"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0003544 {source="DOID:6872", source="MONDO:Redundant", source="MONDOLEX:0006426", source="NCIT:C5406", source="OWLReasoner:2017"} ! spinal cord cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346298
property_value: exactMatch DOID:6872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336048
property_value: exactMatch NCIT:C5406

[Term]
id: MONDO:0006427
name: spindle cell melanoma
def: "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." [NCIT:C4237]
synonym: "desmoplastic melanoma" RELATED [DOID:3162]
synonym: "malignant spindle cell melanoma" EXACT [MONDO:0002530, NCIT:C4237]
synonym: "spindle cell malignant melanoma" EXACT [DOID:3162, NCIT:C4237]
synonym: "spindle cell melanoma" EXACT [DOID:3162, MTH:NOCODE, NCIT:C4237]
synonym: "spindle cell melanoma NOS (morphologic abnormality)" EXACT EXCLUDE [DOID:3162]
synonym: "spitzoid malignant melanoma" EXACT [DOID:3162]
xref: DOID:3162 {source="MONDO:equivalentTo"}
xref: EFO:1000546 {source="MONDO:equivalentTo"}
xref: ICDO:8772/3 {source="NCIT:C4237"}
xref: NCIT:C4237 {source="MONDO:equivalentTo", source="EFO:1000546", source="DOID:3162"}
xref: SCTID:403923002 {source="MONDO:equivalentTo", source="DOID:3162", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334444 {source="MONDO:equivalentTo", source="NCIT:C4237", source="DOID:3162"}
is_a: MONDO:0005105 {source="DOID:3162", source="NCIT:C4237", source="linkedlifedata"} ! melanoma (disease)
is_a: MONDO:0020664 ! spindle cell neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189756002
property_value: closeMatch http://identifiers.org/snomedct/68827007
property_value: exactMatch DOID:3162
property_value: exactMatch http://identifiers.org/snomedct/403923002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334444
property_value: exactMatch NCIT:C4237

[Term]
id: MONDO:0006428
name: splenic diffuse large B-cell lymphoma
def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7308&ns=NCI_Thesaurus" [EFO:1000547]
synonym: "primary splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308]
synonym: "splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308]
xref: EFO:1000547 {source="MONDO:equivalentTo"}
xref: NCIT:C7308 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000547"}
xref: UMLS:C2018774 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7308"}
is_a: MONDO:0018905 {source="NCIT:C7308"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018774
property_value: exactMatch NCIT:C7308

[Term]
id: MONDO:0006429
name: splenic hodgkin lymphoma
def: "A rare Hodgkin lymphoma that arises from the spleen." [NCIT:C7295]
synonym: "Hodgkin's disease of spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's disease of the spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's lymphoma of spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's lymphoma of the spleen" EXACT [NCIT:C7295]
synonym: "primary splenic Hodgkin's lymphoma" EXACT [NCIT:C7295]
synonym: "splenic Hodgkin's disease" EXACT [NCIT:C7295]
synonym: "splenic Hodgkin's lymphoma" EXACT [NCIT:C7295]
synonym: "splenic Hodgkins lymphoma" EXACT [NCIT:C7295]
xref: EFO:1000548 {source="MONDO:equivalentTo"}
xref: NCIT:C7295 {source="MONDO:equivalentTo", source="EFO:1000548", source="exact-label-match"}
xref: SCTID:93527005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153791 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7295"}
is_a: MONDO:0004952 {source="EFO:1000548", source="MONDOLEX:0006429", source="NCIT:C7295"} ! Hodgkins lymphoma
property_value: exactMatch http://identifiers.org/snomedct/93527005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153791
property_value: exactMatch NCIT:C7295

[Term]
id: MONDO:0006430
name: splenic mantle cell lymphoma
def: "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7306&ns=NCI_Thesaurus" [EFO:1000549]
synonym: "splenic mantle cell lymphoma" EXACT [NCIT:C7306]
xref: EFO:1000549 {source="MONDO:equivalentTo"}
xref: NCIT:C7306 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000549"}
xref: UMLS:C2018777 {source="MONDO:equivalentTo", source="NCIT:C7306"}
is_a: MONDO:0018876 {source="NCIT:C7306"} ! mantle cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2018777
property_value: exactMatch NCIT:C7306

[Term]
id: MONDO:0006431
name: obsolete splenic marginal zone lymphoma
is_obsolete: true
replaced_by: MONDO:0019462

[Term]
id: MONDO:0006432
name: stromal predominant kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." [NCIT:C9148]
synonym: "stromal predominant kidney adenosarcoma" EXACT [NCIT:C9148]
synonym: "stromal predominant kidney Wilms tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant kidney Wilms' tumor" EXACT [MONDO:0003324]
synonym: "stromal predominant nephroblastoma" EXACT [NCIT:C9148]
synonym: "stromal predominant renal adenosarcoma" EXACT [NCIT:C9148]
synonym: "stromal predominant renal Wilm's tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant renal Wilms tumor" EXACT [DOID:5191, NCIT:C9148]
synonym: "stromal predominant renal Wilms' tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant Wilms tumor" EXACT [NCIT:C9148]
xref: DOID:5191 {source="MONDO:equivalentTo"}
xref: EFO:1000551 {source="MONDO:equivalentTo"}
xref: NCIT:C9148 {source="EFO:1000551", source="DOID:5191", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: UMLS:C0279610 {source="NCIT:C9148", source="DOID:5191", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DOID:5191", source="EFO:1000551", source="MONDOLEX:0006432", source="NCIT:C9148"} ! kidney Wilms tumor
property_value: exactMatch DOID:5191
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279610
property_value: exactMatch NCIT:C9148

[Term]
id: MONDO:0006433
name: obsolete subcutaneous panniculitis-like T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0019475

[Term]
id: MONDO:0006434
name: obsolete Subependymoma
is_obsolete: true
replaced_by: MONDO:0007667

[Term]
id: MONDO:0006435
name: submandibular gland adenocarcinoma
def: "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." [NCIT:C5940]
synonym: "adenocarcinoma of submandibular gland" EXACT [NCIT:C5940]
synonym: "adenocarcinoma of the submandibular gland" EXACT [NCIT:C5940]
synonym: "submandibular gland adenocarcinoma" EXACT [NCIT:C5940]
xref: EFO:1000554 {source="MONDO:equivalentTo"}
xref: NCIT:C5940 {source="MONDO:equivalentTo", source="EFO:1000554", source="exact-label-match"}
xref: UMLS:C1336521 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5940"}
is_a: MONDO:0004724 {source="MONDOLEX:0006435", source="NCIT:C5940"} ! submandibular gland cancer
is_a: MONDO:0004970 {source="EFO:1000554", source="MONDOLEX:0006435", source="NCIT:C5940/inferred"} ! adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336521
property_value: exactMatch NCIT:C5940

[Term]
id: MONDO:0006436
name: submandibular gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5935]
synonym: "adenoid cystic carcinoma of submandibular gland" EXACT [NCIT:C5935]
synonym: "adenoid cystic carcinoma of the submandibular gland" EXACT [NCIT:C5935]
synonym: "submandibular gland adenoid cystic carcinoma" EXACT [NCIT:C5935]
xref: EFO:1000555 {source="MONDO:equivalentTo"}
xref: NCIT:C5935 {source="MONDO:equivalentTo", source="EFO:1000555", source="exact-label-match"}
xref: SCTID:423189008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C1336522 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5935"}
is_a: MONDO:0004724 {source="MONDOLEX:0006436", source="NCIT:C5935", source="linkedlifedata", source="linkedlifedata/inferred"} ! submandibular gland cancer
is_a: MONDO:0045063 ! major salivary gland adenoid cystic carcinoma
property_value: exactMatch http://identifiers.org/snomedct/423189008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336522
property_value: exactMatch NCIT:C5935

[Term]
id: MONDO:0006437
name: obsolete superficial fibromatosis
is_obsolete: true
replaced_by: MONDO:0016037

[Term]
id: MONDO:0006438
name: synovial chondromatosis
def: "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." [https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis]
subset: gard_rare {source="GARD:0006054"}
synonym: "Henderson-Jones syndrome" EXACT [NCIT:C34467]
synonym: "Reichel's syndrome" EXACT [NCIT:C34467]
synonym: "synovial osteochondromatosis" RELATED [GARD:0006054]
xref: EFO:1000557 {source="MONDO:equivalentTo"}
xref: GARD:0006054 {source="MONDO:equivalentTo"}
xref: MESH:D015838 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34467 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000557"}
xref: UMLS:C0008476 {source="MONDO:equivalentTo", source="GARD:0006054", source="NCIT:C34467"}
is_a: MONDO:0005089 {source="EFO:1000557"} ! sarcoma
property_value: exactMatch http://identifiers.org/mesh/D015838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008476
property_value: exactMatch NCIT:C34467
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis xsd:anyURI {source="GARD:0006054"}

[Term]
id: MONDO:0006439
name: obsolete syringocystadenoma papilliferum
is_obsolete: true
replaced_by: MONDO:0019392

[Term]
id: MONDO:0006440
name: obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease
comment: This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). {source="EFO:1000559"}
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1270 xsd:string
is_obsolete: true
replaced_by: MONDO:0020332

[Term]
id: MONDO:0006441
name: obsolete T-cell prolymphocytic leukemia
is_obsolete: true
replaced_by: MONDO:0019468

[Term]
id: MONDO:0006442
name: tendon sheath fibroma
def: "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." [NCIT:C6485]
synonym: "fibroma of tendon sheath" EXACT [NCIT:C6485]
synonym: "fibroma of the tendon sheath" EXACT [NCIT:C6485]
synonym: "tendon sheath fibroma" EXACT [MONDO:patterns/location, NCIT:C6485]
xref: EFO:1000561 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6485 {source="EFO:1000561", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:403992002 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C1275236 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6485", source="MONDO:equivalentTo"}
is_a: MONDO:0005167 {source="EFO:1000561", source="MONDO:Redundant", source="NCIT:C6485"} ! fibroma
is_a: MONDO:0024876 ! tendon sheath disorder
property_value: exactMatch http://identifiers.org/snomedct/403992002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275236
property_value: exactMatch NCIT:C6485

[Term]
id: MONDO:0006443
name: obsolete tenosynovial giant cell tumor
is_obsolete: true
replaced_by: MONDO:0002522

[Term]
id: MONDO:0006444
name: teratoma with malignant transformation
def: "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." [NCIT:C4289]
subset: gard_rare {source="GARD:0010646"}
synonym: "dermoid cyst with malignant transformation" EXACT [NCIT:C4289]
synonym: "teratoma with malignant transformation" EXACT [NCIT:C4289]
synonym: "TMT" RELATED [ONCOTREE:TMT]
xref: EFO:1000563 {source="MONDO:equivalentTo"}
xref: GARD:0010646 {source="MONDO:equivalentTo"}
xref: ICDO:9084/3 {source="NCIT:C4289"}
xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="exact-label-match"}
xref: ONCOTREE:TMT {source="MONDO:equivalentTo"}
xref: UMLS:C0334523 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4289"}
is_a: MONDO:0002601 {source="NCIT:C4289"} ! teratoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334523
property_value: exactMatch NCIT:C4289
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation xsd:anyURI {source="GARD:0010646"}

[Term]
id: MONDO:0006445
name: obsolete testicular choriocarcinoma
def: "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." [EFO:1000564]
is_obsolete: true
replaced_by: MONDO:0003508

[Term]
id: MONDO:0006446
name: testicular embryonal carcinoma
def: "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." [NCIT:C6341]
synonym: "embryonal carcinoma of testis" EXACT [DOID:5680, NCIT:C6341]
synonym: "embryonal carcinoma of the testis" EXACT [DOID:5680, NCIT:C6341]
synonym: "embryonal testis carcinoma" EXACT [MONDO:0003580]
synonym: "testicular embryonal carcinoma" EXACT [DOID:5680, NCIT:C6341]
synonym: "testis embryonal carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5680 {source="MONDO:equivalentTo"}
xref: EFO:1000565 {source="MONDO:equivalentTo"}
xref: NCIT:C6341 {source="MONDO:equivalentTo", source="EFO:1000565", source="MONDO:kboom-pr-1.00/0.86/13.24", source="DOID:5680"}
xref: UMLS:C0238448 {source="NCIT:C6341", source="MONDO:equivalentTo", source="DOID:5680"}
is_a: MONDO:0002874 {source="NCIT:C6341"} ! testicular pure germ cell tumor
is_a: MONDO:0003403 {source="NCIT:C6341"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0005440 {source="DOID:5680", source="MONDO:Redundant", source="NCIT:C6341"} ! embryonal carcinoma
is_a: MONDO:0005564 {source="DOID:5680/inferred", source="EFO:1000565"} ! embryonal neoplasm
property_value: exactMatch DOID:5680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238448
property_value: exactMatch NCIT:C6341

[Term]
id: MONDO:0006447
name: testicular non-seminomatous germ cell tumor
def: "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." [NCIT:C9313]
subset: ordo_disease {source="Orphanet:363494"}
synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494]
synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195]
synonym: "testicular germ cell tumor non-seminomatous" EXACT [MONDO:0002873, NCIT:C9313]
synonym: "testicular non seminomatous germ cell tumor" EXACT [Orphanet:363494]
synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:363494]
synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313]
xref: DOID:4086 {source="MONDO:equivalentTo"}
xref: EFO:1000570 {source="MONDO:equivalentTo"}
xref: ICD10:C62.1 {source="Orphanet:363494", source="ORDO:363494/ntbt"}
xref: ICDO:9065/3 {source="NCIT:C9313"}
xref: NCIT:C9313 {source="EFO:1000570", source="MONDO:equivalentTo"}
xref: Orphanet:363494 {source="MONDO:equivalentTo"}
xref: UMLS:C1336724 {source="NCIT:C9313", source="MONDO:equivalentTo", source="DOID:4086"}
xref: UMLS:CN204702 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010108 {source="DOID:4086", source="MONDOLEX:0006447", source="NCIT:C9313", source="Orphanet:363494"} ! testicular germ cell tumor
property_value: exactMatch DOID:4086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204702
property_value: exactMatch NCIT:C9313
property_value: exactMatch Orphanet:363494

[Term]
id: MONDO:0006448
name: testicular teratoma (disease)
def: "A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." [NCIT:P378]
synonym: "teratoma of testis" EXACT [NCIT:C3877]
synonym: "teratoma of the testis" EXACT [NCIT:C3877]
synonym: "testicular teratoma" EXACT [MONDO:ambiguous]
xref: EFO:1000573 {source="MONDO:equivalentTo"}
xref: HP:0100616 {source="MONDO:otherHierarchy", source="ontobio"}
xref: NCIT:C3877 {source="EFO:1000573", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.82/0.74"}
is_a: MONDO:0005040 {source="EFO:1000573", source="NCIT:C3877/inferred"} ! germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451
property_value: exactMatch NCIT:C3877

[Term]
id: MONDO:0006449
name: obsolete testicular yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0003402

[Term]
id: MONDO:0006450
name: therapy-related myeloid neoplasm
def: "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCIT:C27912]
synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT [NCIT:C27912]
synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT [NCIT:C27912]
synonym: "therapy-related AML and MDS" EXACT [NCIT:C27912]
synonym: "therapy-related myeloid neoplasm" EXACT [NCIT:C27912]
synonym: "therapy-related myeloid neoplasms" RELATED [ONCOTREE:TMN]
synonym: "TMN" RELATED [ONCOTREE:TMN]
xref: EFO:1000575 {source="MONDO:equivalentTo"}
xref: ICDO:9920/3 {source="NCIT:C27912"}
xref: NCIT:C27912 {source="EFO:1000575", source="MONDO:equivalentTo"}
xref: ONCOTREE:TMN {source="MONDO:equivalentTo"}
is_a: MONDO:0020076 ! myeloproliferative neoplasm
property_value: exactMatch NCIT:C27912

[Term]
id: MONDO:0006451
name: thymic carcinoma
def: "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential." [Orphanet:99868]
subset: ordo_disease {source="Orphanet:99868"}
synonym: "carcinoma of thymus" EXACT [MONDO:patterns/carcinoma]
synonym: "malignant thymoma" EXACT [DOID:3284, NCIT:C7612, Orphanet:99868]
synonym: "THYC" RELATED [ONCOTREE:THYC]
synonym: "thymic carcinoma" EXACT [DOID:3284, NCIT:C7569]
synonym: "thymic carcinoma (excluding well differentiated thymic carcinoma)" EXACT [NCIT:C7569]
synonym: "thymic carcinoma excluding well differentiated thymic carcinoma" EXACT [NCIT:C7569]
synonym: "thymoma type C" EXACT DEPRECATED [NCIT:C7569]
synonym: "thymoma, malignant" EXACT [DOID:3284]
synonym: "thymoma, malignant (morphologic abnormality)" EXACT [DOID:3284]
synonym: "thymoma, type C" EXACT [DOID:4554]
synonym: "thymoma, type C (morphologic abnormality)" EXACT [DOID:4554]
synonym: "thymus carcinoma" EXACT [MONDO:patterns/location]
synonym: "type C thymoma" EXACT DEPRECATED [MONDO:0003048, NCIT:C7569]
xref: DOID:3284 {source="MONDO:equivalentTo"}
xref: DOID:4554 {source="MONDO:equivalentTo"}
xref: EFO:1000576 {source="MONDO:equivalentTo"}
xref: GARD:0011952 {source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="Orphanet:99868", source="ORDO:99868/ntbt"}
xref: ICDO:8586/3 {source="NCIT:C7569"}
xref: MedDRA:10061031 {source="ORDO:99868/e", source="Orphanet:99868"}
xref: NCIT:C7569 {source="DOID:4554", source="MONDO:equivalentTo", source="EFO:1000576"}
xref: ONCOTREE:THYC {source="MONDO:equivalentTo"}
xref: Orphanet:99868 {source="MONDO:equivalentTo"}
xref: SCTID:444374006 {source="MONDO:kboom-pr-0.94/0.82/0.79", source="DOID:4554", source="MONDO:equivalentTo"}
xref: UMLS:C0205969 {source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868", source="NCIT:C7569", source="DOID:3284"}
xref: UMLS:C1322286 {source="DOID:4554", source="MEDGEN:kboom-pr98-c99", source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868"}
xref: UMLS:CN207411 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Redundant", source="NCIT:C7569"} ! thymus cancer
is_a: MONDO:0004993 {source="EFO:1000576", source="MONDO:Redundant", source="MONDOLEX:0006451"} ! carcinoma
is_a: MONDO:0018079 {source="MONDO:Redundant", source="NCIT:C7569", source="ONCOTREE:THYC", source="Orphanet:99868"} ! thymic epithelial neoplasm
relationship: excluded_subClassOf MONDO:0006456 {source="DOID:4554"} ! thymoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128717008
property_value: closeMatch http://identifiers.org/snomedct/15949004
property_value: closeMatch http://identifiers.org/snomedct/444596001
property_value: closeMatch NCIT:C7612
property_value: exactMatch DOID:3284
property_value: exactMatch DOID:4554
property_value: exactMatch http://identifiers.org/meddra/10061031
property_value: exactMatch http://identifiers.org/snomedct/444374006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1322286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207411
property_value: exactMatch NCIT:C7569
property_value: exactMatch Orphanet:99868

[Term]
id: MONDO:0006452
name: thymic sarcomatoid carcinoma
def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." [NCIT:C6463]
synonym: "sarcomatoid carcinoma of the Thymus" EXACT [NCIT:C6463]
synonym: "sarcomatoid carcinoma of Thymus" EXACT [NCIT:C6463]
synonym: "thymic carcinosarcoma" EXACT [DOID:8138, NCIT:C6463]
synonym: "thymic sarcomatoid carcinoma" EXACT [NCIT:C6463]
synonym: "thymic spindle cell carcinoma" EXACT [NCIT:C6463]
synonym: "Thymus sarcomatoid carcinoma" EXACT [NCIT:C6463]
synonym: "thymus sarcomatoid carcinoma" EXACT [MONDO:0004476, MONDO:patterns/location]
xref: DOID:8138 {source="MONDO:equivalentTo"}
xref: EFO:1000577 {source="MONDO:equivalentTo"}
xref: NCIT:C6463 {source="DOID:8138", source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000577"}
xref: UMLS:C1335924 {source="DOID:8138", source="NCIT:C6463", source="MONDO:equivalentTo"}
is_a: MONDO:0006406 {source="DOID:8138", source="MONDO:Redundant", source="MONDOLEX:0006452", source="NCIT:C6463"} ! sarcomatoid carcinoma
is_a: MONDO:0006451 {source="DOID:8138/inferred", source="MONDO:Redundant", source="MONDOLEX:0006452", source="NCIT:C6463"} ! thymic carcinoma
relationship: excluded_subClassOf MONDO:0003493 {source="DOID:8138"} ! thymus squamous cell carcinoma
property_value: exactMatch DOID:8138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335924
property_value: exactMatch NCIT:C6463

[Term]
id: MONDO:0006453
name: obsolete thymic small cell carcinoma
def: "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." [NCIT:C6460]
is_obsolete: true
replaced_by: MONDO:0004122

[Term]
id: MONDO:0006454
name: obsolete thymic squamous cell carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." [NCIT:C6455]
is_obsolete: true
replaced_by: MONDO:0003493

[Term]
id: MONDO:0006455
name: thymic undifferentiated carcinoma
def: "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." [NCIT:C35718]
synonym: "thymic undifferentiated carcinoma" EXACT [NCIT:C35718]
xref: EFO:1000580 {source="MONDO:equivalentTo"}
xref: NCIT:C35718 {source="EFO:1000580", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1336865 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35718", source="MONDO:equivalentTo"}
is_a: MONDO:0005617 {source="EFO:1000580", source="MONDO:Redundant", source="MONDOLEX:0006455", source="NCIT:C35718"} ! undifferentiated carcinoma
is_a: MONDO:0006451 {source="MONDO:Redundant", source="NCIT:C35718", source="OWLReasoner:2017"} ! thymic carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336865
property_value: exactMatch NCIT:C35718

[Term]
id: MONDO:0006456
name: thymoma (disease)
def: "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." [NCIT:C3411]
subset: ordo_disease {source="Orphanet:99867"}
synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867]
synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867]
synonym: "THYM" RELATED [ONCOTREE:THYM]
synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411]
xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"}
xref: EFO:1000581 {source="MONDO:equivalentTo"}
xref: HP:0100522 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D15.0 {source="MONDO:relatedTo", source="Orphanet:99867", source="ORDO:99867/ntbt"}
xref: ICD10:D38.4 {source="Orphanet:99867", source="ORDO:99867/btnt"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8580/1 {source="NCIT:C3411"}
xref: MedDRA:10043670 {source="ORDO:99867/e", source="Orphanet:99867"}
xref: NCIT:C3411 {source="DOID:3275", source="EFO:1000581", source="MONDO:equivalentTo"}
xref: ONCOTREE:THYM {source="MONDO:equivalentTo"}
xref: Orphanet:99867 {source="MONDO:equivalentTo"}
xref: SCTID:444231005 {source="DOID:3275", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.85/0.79"}
xref: UMLS:C0040100 {source="DOID:3275", source="ORDO:99867/e", source="Orphanet:99867", source="MONDO:equivalentTo", source="NCIT:C3411"}
is_a: MONDO:0018079 {source="MONDOLEX:0006456", source="NCIT:C3411", source="ONCOTREE:THYM", source="Orphanet:99867"} ! thymic epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128856005
property_value: closeMatch http://identifiers.org/snomedct/189721001
property_value: exactMatch DOID:3275
property_value: exactMatch http://identifiers.org/meddra/10043670
property_value: exactMatch http://identifiers.org/mesh/D013945
property_value: exactMatch http://identifiers.org/snomedct/444231005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040100
property_value: exactMatch NCIT:C3411
property_value: exactMatch Orphanet:99867

[Term]
id: MONDO:0006457
name: obsolete thymoma type AB
is_obsolete: true
replaced_by: MONDO:0016975

[Term]
id: MONDO:0006458
name: thymoma type B3
def: "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." [NCIT:C7997]
synonym: "atypical thymoma" EXACT [NCIT:C7997]
synonym: "epithelial malignant thymoma" EXACT [MONDO:0004399, NCIT:C7997]
synonym: "epithelial thymoma" EXACT [NCIT:C7997]
synonym: "malignant thymoma type B3" EXACT [NCIT:C7997]
synonym: "squamoid thymoma" EXACT [DOID:7926, NCIT:C7997]
synonym: "thymoma type B3" EXACT [NCIT:C7997]
synonym: "thymoma, epithelial" EXACT [DOID:7926]
synonym: "well differentiated thymic carcinoma" EXACT [DOID:7926, NCIT:C7997]
synonym: "well-differentiated thymic carcinoma" EXACT [NCIT:C7997]
xref: DOID:7926 {source="MONDO:equivalentTo"}
xref: EFO:1000583 {source="MONDO:equivalentTo"}
xref: ICDO:8585/1 {source="NCIT:C7997"}
xref: ICDO:8585/3 {source="NCIT:C7997"}
xref: NCIT:C7997 {source="EFO:1000583", source="MONDO:equivalentTo", source="DOID:7926", source="MONDO:kboom-pr-0.93/0.85/0.11"}
xref: UMLS:C0279705 {source="MONDO:equivalentTo", source="DOID:7926", source="NCIT:C7997"}
is_a: MONDO:0016974 {source="DOID:7926", source="MONDOLEX:0006458", source="NCIT:C7997"} ! thymoma type B
property_value: closeMatch http://identifiers.org/snomedct/128715000
property_value: closeMatch http://identifiers.org/snomedct/128716004
property_value: exactMatch DOID:7926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279705
property_value: exactMatch NCIT:C7997

[Term]
id: MONDO:0006459
name: thymoma type B1
alt_id: MONDO:0004036
def: "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." [NCIT:C6887]
synonym: "lymphocyte-predominant thymoma" EXACT [DOID:6917, NCIT:C6887]
synonym: "lymphocyte-rich thymoma" EXACT [NCIT:C6887]
synonym: "organoid thymoma" EXACT [NCIT:C6887]
synonym: "predominantly cortical thymoma" EXACT [NCIT:C6887]
synonym: "thymoma type B1" EXACT [NCIT:C6887]
synonym: "thymoma, organoid" EXACT [DOID:6917]
xref: DOID:6917 {source="MONDO:equivalentTo"}
xref: EFO:1000584 {source="MONDO:equivalentTo"}
xref: ICDO:8583/1 {source="NCIT:C6887"}
xref: NCIT:C6887 {source="EFO:1000584", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21", source="DOID:6917"}
xref: UMLS:C1266094 {source="MONDO:equivalentTo", source="NCIT:C6887", source="DOID:6917"}
is_a: MONDO:0016974 {source="DOID:6917", source="MONDOLEX:0006459", source="NCIT:C6887"} ! thymoma type B
property_value: closeMatch http://identifiers.org/snomedct/128711009
property_value: exactMatch DOID:6917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266094
property_value: exactMatch NCIT:C6887

[Term]
id: MONDO:0006460
name: thyroglossal duct cyst
def: "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." [NCIT:P378]
xref: EFO:1000585 {source="MONDO:equivalentTo"}
xref: ICD9:759.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013955 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:39462005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005070 {source="EFO:1000585", source="MESH:D013955/inferred"} ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/mesh/D013955
property_value: exactMatch http://identifiers.org/snomedct/39462005
property_value: exactMatch NCIT:C85189

[Term]
id: MONDO:0006461
name: obsolete thyroid gland carcinoma
is_obsolete: true
replaced_by: MONDO:0015075

[Term]
id: MONDO:0006462
name: thyroid gland diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma primarily involving the thyroid gland." [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of the thyroid" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of the thyroid gland" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of thyroid" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of thyroid gland" EXACT [NCIT:C6046]
synonym: "primary thyroid gland diffuse large B-cell lymphoma" EXACT [NCIT:C6046]
synonym: "thyroid diffuse large B-cell lymphoma" EXACT [NCIT:C6046]
synonym: "thyroid gland diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C6046]
xref: EFO:1000587 {source="MONDO:equivalentTo"}
xref: NCIT:C6046 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000587", source="exact-label-match"}
xref: UMLS:C1336749 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6046", source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C6046"} ! diffuse large B-cell lymphoma
is_a: MONDO:0019962 ! thyroid lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336749
property_value: exactMatch NCIT:C6046

[Term]
id: MONDO:0006463
name: thyroid gland mucoepidermoid carcinoma
def: "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." [NCIT:C38762]
synonym: "mucoepidermoid thyroid carcinoma" EXACT [MONDO:0003094, NCIT:C38762]
synonym: "mucoepidermoid thyroid gland carcinoma" EXACT [NCIT:C38762]
synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C38762]
xref: DOID:4687 {source="MONDO:equivalentTo"}
xref: EFO:1000590 {source="MONDO:equivalentTo"}
xref: NCIT:C38762 {source="EFO:1000590", source="DOID:4687", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1513721 {source="DOID:4687", source="NCIT:C38762", source="MONDO:equivalentTo"}
is_a: MONDO:0003036 {source="MONDO:Redundant", source="MONDOLEX:0006463", source="NCIT:C38762", source="OWLReasoner:2017"} ! mucoepidermoid carcinoma
is_a: MONDO:0024622 ! thyroid gland adenocarcinoma
property_value: exactMatch DOID:4687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513721
property_value: exactMatch NCIT:C38762

[Term]
id: MONDO:0006464
name: thyroid gland mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." [NCIT:P378]
synonym: "thyroid MALT lymphoma" EXACT [NCIT:C7601]
synonym: "thyroid mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C7601]
xref: EFO:1000591 {source="MONDO:equivalentTo"}
xref: NCIT:C7601 {source="EFO:1000591", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336754 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7601"}
is_a: MONDO:0007650 {source="MONDOLEX:0006464", source="NCIT:C7601"} ! MALT lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336754
property_value: exactMatch NCIT:C7601

[Term]
id: MONDO:0006465
name: thyroid gland oncocytic follicular carcinoma
def: "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." [NCIT:P378]
synonym: "Hurthle cell carcinoma of the thyroid" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of the thyroid gland" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of thyroid" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of thyroid gland" EXACT [NCIT:C4946]
synonym: "Hurthle cell thyroid gland carcinoma" EXACT [NCIT:C4946]
synonym: "oncocytic carcinoma of the thyroid" EXACT [NCIT:C4946]
synonym: "oncocytic carcinoma of thyroid" EXACT [NCIT:C4946]
synonym: "thyroid gland Hurthle cell carcinoma" EXACT [NCIT:C4946]
synonym: "thyroid Hurthle cell carcinoma" EXACT [NCIT:C4946]
synonym: "thyroid oncocytic carcinoma" EXACT [NCIT:C4946]
xref: EFO:1000592 {source="MONDO:equivalentTo"}
xref: NCIT:C4946 {source="EFO:1000592", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21"}
is_a: MONDO:0004970 {source="EFO:1000592", source="NCIT:C4946/inferred"} ! adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0749424
property_value: exactMatch NCIT:C4946

[Term]
id: MONDO:0006466
name: thyroid gland spindle cell tumor with thymus-like differentiation
def: "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." [NCIT:C46105]
synonym: "settle" EXACT [NCIT:C46105]
synonym: "settle tumor" EXACT [DOID:0050923]
synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [MONDO:0000538]
xref: DOID:0050923 {source="MONDO:equivalentTo"}
xref: EFO:1000593 {source="MONDO:equivalentTo"}
xref: ICDO:8588/3 {source="NCIT:C46105"}
xref: NCIT:C46105 {source="EFO:1000593", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1266099 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C46105"}
is_a: MONDO:0015075 {source="DOID:0050923", source="NCIT:C46105"} ! thyroid gland carcinoma
relationship: excluded_subClassOf MONDO:0005094 {source="EFO:1000593"} ! hemangiopericytoma
property_value: exactMatch DOID:0050923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266099
property_value: exactMatch NCIT:C46105

[Term]
id: MONDO:0006467
name: thyroid gland squamous cell carcinoma
def: "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." [NCIT:C46008]
synonym: "squamous cell thyroid gland carcinoma" EXACT [NCIT:C46008]
synonym: "thyroid gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C46008]
xref: EFO:1000594 {source="MONDO:equivalentTo"}
xref: NCIT:C46008 {source="DesignPattern", source="EFO:1000594", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1710177 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C46008"}
is_a: MONDO:0005096 {source="EFO:1000594", source="MONDO:Redundant", source="MONDOLEX:0006467", source="NCIT:C46008"} ! squamous cell carcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="MONDOLEX:0006467", source="NCIT:C46008"} ! thyroid gland carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710177
property_value: exactMatch NCIT:C46008

[Term]
id: MONDO:0006468
name: thyroid gland undifferentiated (anaplastic) carcinoma
def: "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." [NCIT:C3878]
subset: gard_rare
subset: ordo_disease {source="Orphanet:142"}
synonym: "anaplastic carcinoma of the thyroid" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of the thyroid gland" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of thyroid" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of thyroid gland" EXACT [NCIT:C3878]
synonym: "anaplastic thyroid cancer" EXACT [NCIT:C3878]
synonym: "anaplastic thyroid carcinoma" EXACT [GARD:0000664, MONDO:ambiguous, NCIT:C3878]
synonym: "anaplastic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "Dedifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "metaplastic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "pleomorphic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "sarcomatoid thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "THAP" RELATED [ONCOTREE:THAP]
synonym: "thyroid cancer, anaplastic" RELATED [GARD:0000664]
synonym: "thyroid carcinoma, anaplastic" RELATED [GARD:0000664]
synonym: "thyroid gland carcinosarcoma" EXACT [NCIT:C3878]
synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [NCIT:C3878]
synonym: "thyroid gland undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated (anaplastic) thyroid gland cancer" EXACT [NCIT:C3878]
synonym: "undifferentiated (anaplastic) thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of the thyroid" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of the thyroid gland" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of thyroid" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of thyroid gland" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878]
xref: EFO:1000595 {source="MONDO:equivalentTo"}
xref: GARD:0000664 {source="MONDO:equivalentTo"}
xref: HP:0011779 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C73 {source="ORDO:142/ntbt", source="Orphanet:142"}
xref: MedDRA:10002240 {source="ORDO:142/e", source="Orphanet:142"}
xref: MESH:D065646 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3878 {source="DesignPattern", source="EFO:1000595", source="MONDO:equivalentTo"}
xref: ONCOTREE:THAP {source="MONDO:equivalentTo"}
xref: Orphanet:142 {source="MONDO:equivalentTo"}
xref: SCTID:255031003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238461 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000664", source="MONDO:equivalentTo", source="ORDO:142/e", source="Orphanet:142", source="NCIT:C3878"}
is_a: MONDO:0005232 {source="NCIT:C3878"} ! large cell carcinoma
is_a: MONDO:0005617 {source="EFO:1000595", source="MONDO:Redundant", source="MONDOLEX:0006468", source="NCIT:C3878"} ! undifferentiated carcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="MONDOLEX:0006468", source="NCIT:C3878", source="Orphanet:142", source="linkedlifedata"} ! thyroid gland carcinoma
property_value: exactMatch http://identifiers.org/meddra/10002240
property_value: exactMatch http://identifiers.org/mesh/C536910
property_value: exactMatch http://identifiers.org/mesh/D065646
property_value: exactMatch http://identifiers.org/snomedct/255031003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238461
property_value: exactMatch NCIT:C3878
property_value: exactMatch Orphanet:142

[Term]
id: MONDO:0006469
name: tibial adamantinoma
def: "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." [NCIT:C8461]
synonym: "adamantinoma of tibia" EXACT [MONDO:design_pattern]
synonym: "tibia adamantinoma" EXACT [MONDO:patterns/location]
synonym: "tibia long bone adamantinoma" EXACT [MONDO:patterns/location]
synonym: "tibial adamantinoma" EXACT [DOID:6322, NCIT:C8461]
synonym: "tibial adamantinoma morphology" EXACT [DOID:6322]
xref: DOID:6322 {source="MONDO:equivalentTo"}
xref: EFO:1000596 {source="MONDO:equivalentTo"}
xref: NCIT:C8461 {source="DOID:6322", source="MONDO:equivalentTo", source="EFO:1000596", source="exact-label-match"}
xref: SCTID:281702006 {source="DOID:6322", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1273017 {source="DOID:6322", source="MONDO:equivalentTo", source="NCIT:C8461"}
is_a: MONDO:0000952 ! cancer of long bone of lower limb
is_a: MONDO:0002422 {source="DOID:6322", source="DOID:6322/inferred", source="MONDO:Redundant", source="NCIT:C8461", source="linkedlifedata"} ! adamantinoma
property_value: closeMatch http://identifiers.org/snomedct/189895006
property_value: closeMatch http://identifiers.org/snomedct/210233007
property_value: closeMatch http://identifiers.org/snomedct/313417009
property_value: closeMatch http://identifiers.org/snomedct/56763007
property_value: exactMatch DOID:6322
property_value: exactMatch http://identifiers.org/snomedct/281702006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1273017
property_value: exactMatch NCIT:C8461

[Term]
id: MONDO:0006470
name: tonsillar squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." [NCIT:P378]
synonym: "palatine tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "scc of the tonsil" EXACT [NCIT:C8183]
synonym: "scc of tonsil" EXACT [NCIT:C8183]
synonym: "squamous cell carcinoma of the tonsil" EXACT [NCIT:C8183]
synonym: "squamous cell carcinoma of tonsil" EXACT [NCIT:C8183]
synonym: "tonsil scc" EXACT [NCIT:C8183]
synonym: "tonsillar scc" EXACT [NCIT:C8183]
xref: EFO:1000597 {source="MONDO:equivalentTo"}
xref: NCIT:C8183 {source="MONDO:kboom-pr-0.91/0.79/0.32", source="EFO:1000597", source="MONDO:equivalentTo"}
xref: UMLS:C0280317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8183"}
is_a: MONDO:0000535 ! tonsil squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280317
property_value: exactMatch NCIT:C8183

[Term]
id: MONDO:0006471
name: tracheal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." [NCIT:C6051]
synonym: "adenoid cystic carcinoma of the trachea" EXACT [NCIT:C6051]
synonym: "adenoid cystic carcinoma of trachea" EXACT [DOID:4875, NCIT:C6051]
synonym: "trachea adenoid cystic carcinoma" EXACT [MONDO:0003183, MONDO:patterns/location, NCIT:C6051]
synonym: "tracheal adenoid cystic carcinoma" EXACT [DOID:4875, NCIT:C6051]
xref: DOID:4875 {source="MONDO:equivalentTo"}
xref: EFO:1000598 {source="MONDO:equivalentTo"}
xref: NCIT:C6051 {source="DOID:4875", source="MONDO:equivalentTo", source="EFO:1000598", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: SCTID:254619006 {source="DOID:4875", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345945 {source="DOID:4875", source="MONDO:equivalentTo", source="NCIT:C6051"}
is_a: MONDO:0003184 {source="DOID:4875", source="MONDO:Redundant", source="MONDOLEX:0006471", source="NCIT:C6051", source="OWLReasoner:2017"} ! trachea carcinoma
is_a: MONDO:0004971 {source="EFO:1000598", source="MONDO:Redundant", source="MONDOLEX:0006471", source="NCIT:C6051"} ! adenoid cystic carcinoma
property_value: exactMatch DOID:4875
property_value: exactMatch http://identifiers.org/snomedct/254619006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345945
property_value: exactMatch NCIT:C6051

[Term]
id: MONDO:0006472
name: obsolete tracheal carcinoma
is_obsolete: true
replaced_by: MONDO:0003184

[Term]
id: MONDO:0006473
name: obsolete tracheal squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0001419

[Term]
id: MONDO:0006474
name: transitional cell carcinoma
def: "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." [NCIT:P378]
subset: gard_rare {source="GARD:0007794"}
synonym: "carcinoma of transitional epithelial cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of urothelial cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, urothelial, malignant" EXACT [NCIT:C2930]
synonym: "transitional carcinoma" EXACT [DOID:2671, NCIT:C2930]
synonym: "transitional cell carcinoma" EXACT [NCIT:C2930]
synonym: "transitional cell neoplasm" RELATED [DOID:2671]
synonym: "transitional cell tumor" EXACT [DOID:2671, NCIT:C6783]
synonym: "transitional epithelial cell carcinoma" EXACT []
synonym: "urothelial cell carcinoma" EXACT [DOID:2671, MONDO:patterns/location]
xref: DOID:2671 {source="MONDO:equivalentTo"}
xref: EFO:1000601 {source="MONDO:equivalentTo"}
xref: GARD:0007794 {source="MONDO:equivalentTo"}
xref: ICDO:8120/3 {source="NCIT:C2930"}
xref: MESH:D002295 {source="DOID:2671", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2930 {source="DOID:2671", source="MONDO:equivalentTo", source="EFO:1000601", source="MONDO:kboom-pr-0.91/0.80/0.32"}
xref: UMLS:C0007138 {source="DOID:2671", source="MONDO:equivalentTo", source="NCIT:C2930"}
is_a: MONDO:0004993 {source="DOID:2671", source="EFO:1000601", source="MESH:D002295", source="MONDO:Redundant", source="MONDOLEX:0006474", source="NCIT:C2930"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/118287003
property_value: closeMatch http://identifiers.org/snomedct/189576006
property_value: closeMatch http://identifiers.org/snomedct/27090000
property_value: exactMatch DOID:2671
property_value: exactMatch http://identifiers.org/mesh/D002295
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007138
property_value: exactMatch NCIT:C2930
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma xsd:anyURI {source="GARD:0007794"}

[Term]
id: MONDO:0006475
name: unclassified renal cell carcinoma
def: "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." [NCIT:C27892]
synonym: "unclassified renal cell cancer" EXACT [NCIT:C27892]
synonym: "unclassified renal cell carcinoma" EXACT [NCIT:C27892]
synonym: "URCC" RELATED [ONCOTREE:URCC]
xref: EFO:1000603 {source="MONDO:equivalentTo"}
xref: NCIT:C27892 {source="MONDO:equivalentTo", source="EFO:1000603", source="exact-label-match"}
xref: ONCOTREE:URCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336853 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27892", source="MONDO:equivalentTo"}
is_a: MONDO:0005549 {source="MONDOLEX:0006475", source="NCIT:C27892"} ! renal cell adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336853
property_value: exactMatch NCIT:C27892

[Term]
id: MONDO:0006476
name: undifferentiated gallbladder carcinoma
def: "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." [NCIT:C9167]
synonym: "anaplastic carcinoma of gallbladder" EXACT [NCIT:C9167]
synonym: "anaplastic carcinoma of the gallbladder" EXACT [NCIT:C9167]
synonym: "anaplastic gallbladder carcinoma" EXACT [NCIT:C9167]
synonym: "gall bladder undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder undifferentiated carcinoma" EXACT [NCIT:C9167]
synonym: "gallbladder undifferentiated carcinoma" RELATED [NCIT:C9167]
synonym: "undifferentiated carcinoma of gallbladder" EXACT [NCIT:C9167]
synonym: "undifferentiated carcinoma of the gallbladder" EXACT [NCIT:C9167]
synonym: "undifferentiated gallbladder cancer" EXACT [NCIT:C9167]
synonym: "undifferentiated gallbladder carcinoma" EXACT [NCIT:C9167]
xref: EFO:1000604 {source="MONDO:equivalentTo"}
xref: NCIT:C9167 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000604"}
xref: UMLS:C0279653 {source="NCIT:C9167", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003220 {source="MONDO:Redundant", source="MONDOLEX:0006476", source="NCIT:C9167", source="OWLReasoner:2017"} ! gallbladder carcinoma
is_a: MONDO:0005617 {source="EFO:1000604", source="MONDO:Redundant", source="MONDOLEX:0006476", source="NCIT:C9167", source="OWLReasoner:2017"} ! undifferentiated carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279653
property_value: exactMatch NCIT:C9167

[Term]
id: MONDO:0006477
name: undifferentiated ovarian carcinoma
def: "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." [NCIT:C4509]
synonym: "anaplastic carcinoma of ovary" EXACT [NCIT:C4509]
synonym: "anaplastic carcinoma of the ovary" EXACT [NCIT:C4509]
synonym: "anaplastic ovarian carcinoma" EXACT [NCIT:C4509]
synonym: "ovarian undifferentiated carcinoma" EXACT [NCIT:C4509]
synonym: "ovarian undifferentiated carcinoma" RELATED [NCIT:C4509]
synonym: "ovary undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of ovary" EXACT [NCIT:C4509]
synonym: "undifferentiated carcinoma of the ovary" EXACT [NCIT:C4509]
synonym: "undifferentiated ovarian cancer" EXACT [NCIT:C4509]
synonym: "undifferentiated ovarian carcinoma" EXACT [NCIT:C4509]
xref: EFO:1000605 {source="MONDO:equivalentTo"}
xref: NCIT:C4509 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000605"}
xref: SCTID:254856004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346167 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4509", source="MONDO:equivalentTo"}
is_a: MONDO:0005140 {source="EFO:1000605", source="MONDO:Entailed", source="MONDOLEX:0006477", source="NCIT:C4509"} ! ovarian carcinoma
is_a: MONDO:0005617 {source="EFO:1000605", source="MONDO:Redundant", source="MONDOLEX:0006477", source="NCIT:C4509"} ! undifferentiated carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254856004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346167
property_value: exactMatch NCIT:C4509

[Term]
id: MONDO:0006478
name: undifferentiated pancreatic carcinoma
def: "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." [NCIT:C5722]
synonym: "pancreas undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic carcinosarcoma" EXACT [NCIT:C5722]
synonym: "pleomorphic large cell pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "sarcomatoid pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "spindle cell pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "UCP" RELATED [ONCOTREE:UCP]
synonym: "undifferentiated (anaplastic) pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "undifferentiated carcinoma of pancreas" EXACT [NCIT:C5722]
synonym: "undifferentiated carcinoma of the pancreas" EXACT [NCIT:C5722]
synonym: "undifferentiated pancreatic carcinoma" EXACT [NCIT:C5722]
xref: EFO:1000606 {source="MONDO:equivalentTo"}
xref: NCIT:C5722 {source="DesignPattern", source="EFO:1000606", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:UCP {source="MONDO:equivalentTo"}
xref: UMLS:C1336861 {source="MONDO:equivalentTo", source="NCIT:C5722", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005184 {source="EFO:1000606", source="NCIT:C5722"} ! pancreatic ductal adenocarcinoma
is_a: MONDO:0005617 ! undifferentiated carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336861
property_value: exactMatch NCIT:C5722

[Term]
id: MONDO:0006479
name: undifferentiated pancreatic carcinoma with osteoclast-like giant cells
def: "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." [NCIT:C5723]
synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723]
synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [MONDO:0004342, NCIT:C5723]
synonym: "pancreatic osteoclast-like giant cell carcinoma" EXACT [NCIT:C5723]
synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723]
xref: DOID:7718 {source="MONDO:equivalentTo"}
xref: EFO:1000607 {source="MONDO:equivalentTo"}
xref: NCIT:C5723 {source="EFO:1000607", source="MONDO:equivalentTo"}
xref: UMLS:C2007059 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5723"}
is_a: MONDO:0006478 {source="MONDOLEX:0006479", source="NCIT:C5723"} ! undifferentiated pancreatic carcinoma
property_value: exactMatch DOID:7718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2007059
property_value: exactMatch NCIT:C5723

[Term]
id: MONDO:0006480
name: undifferentiated pleomorphic sarcoma, inflammatory variant
def: "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." [NCIT:C6497]
synonym: "inflammatory malignant fibrous histiocytoma" EXACT [NCIT:C6497]
synonym: "inflammatory MFH" EXACT [MONDO:0003797, NCIT:C6497]
synonym: "malignant xanthogranuloma" EXACT [NCIT:C6497]
synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [NCIT:C6497]
synonym: "Xanthosarcoma" EXACT [DOID:6192, NCIT:C6497]
xref: DOID:6192 {source="MONDO:equivalentTo"}
xref: EFO:1000608 {source="MONDO:equivalentTo"}
xref: NCIT:C6497 {source="EFO:1000608", source="DOID:6192", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: UMLS:C1334180 {source="NCIT:C6497", source="DOID:6192", source="MONDO:equivalentTo"}
is_a: MONDO:0002142 {source="DOID:6192", source="MONDOLEX:0006480", source="NCIT:C6497"} ! undifferentiated pleomorphic sarcoma
property_value: exactMatch DOID:6192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334180
property_value: exactMatch NCIT:C6497

[Term]
id: MONDO:0006481
name: ureter carcinoma
def: "A carcinoma that arises from epithelial cells of the ureter." [MONDO:DesignPattern]
synonym: "carcinoma of the ureter" EXACT [NCIT:C8993]
synonym: "carcinoma of ureter" EXACT [MONDO:patterns/carcinoma, NCIT:C8993]
synonym: "ureter cancer" EXACT [NCIT:C8993]
synonym: "ureter carcinoma" EXACT [MONDO:patterns/location, NCIT:C8993]
synonym: "ureteral carcinoma" EXACT [DOID:4939, NCIT:C8993]
xref: DOID:4939 {source="MONDO:equivalentTo"}
xref: EFO:1000609 {source="MONDO:equivalentTo"}
xref: NCIT:C8993 {source="EFO:1000609", source="MONDO:equivalentTo", source="DOID:4939"}
xref: SCTID:448864006 {source="MONDO:kboom-pr-0.69/0.38/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0600079 {source="NCIT:C8993", source="MONDO:equivalentTo", source="DOID:4939"}
is_a: MONDO:0004993 {source="DOID:4939", source="EFO:1000609", source="MONDO:Redundant", source="MONDOLEX:0006481", source="NCIT:C8993", source="linkedlifedata"} ! carcinoma
is_a: MONDO:0008627 {source="DOID:4939", source="MONDO:Redundant", source="MONDOLEX:0006481", source="NCIT:C8993", source="linkedlifedata"} ! ureter cancer
property_value: exactMatch DOID:4939
property_value: exactMatch http://identifiers.org/snomedct/448864006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600079
property_value: exactMatch NCIT:C8993

[Term]
id: MONDO:0006482
name: ureter small cell carcinoma
def: "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." [NCIT:C6176]
synonym: "small cell carcinoma of the ureter" EXACT [NCIT:C6176]
synonym: "small cell carcinoma of ureter" EXACT [NCIT:C6176]
synonym: "ureter small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6176]
synonym: "ureteral small cell carcinoma" EXACT [DOID:6886, NCIT:C6176]
xref: DOID:6886 {source="MONDO:equivalentTo"}
xref: EFO:1000610 {source="MONDO:equivalentTo"}
xref: NCIT:C6176 {source="DOID:6886", source="MONDO:equivalentTo", source="EFO:1000610", source="exact-label-match"}
xref: UMLS:C1336878 {source="DOID:6886", source="NCIT:C6176", source="MONDO:equivalentTo"}
is_a: MONDO:0000402 {source="DOID:6886", source="MONDO:Redundant", source="MONDOLEX:0006482", source="NCIT:C6176"} ! small cell carcinoma
is_a: MONDO:0006481 {source="DOID:6886", source="MONDO:Redundant", source="MONDOLEX:0006482", source="NCIT:C6176"} ! ureter carcinoma
property_value: exactMatch DOID:6886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336878
property_value: exactMatch NCIT:C6176

[Term]
id: MONDO:0006483
name: urothelial dysplasia
def: "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." [NCIT:C39856]
comment: This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future.
synonym: "transitional cell dysplasia of the urinary tract" EXACT [NCIT:C39856]
synonym: "urothelial dysplasia" EXACT [NCIT:C39856]
xref: EFO:1000611 {source="MONDO:equivalentTo"}
xref: NCIT:C39856 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000611", source="exact-label-match"}
xref: UMLS:C1275859 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C39856"}
is_a: MONDO:0024337 ! urothelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275859
property_value: exactMatch NCIT:C39856

[Term]
id: MONDO:0006484
name: usual ductal breast hyperplasia
def: "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." [NCIT:P378]
synonym: "ductal breast hyperplasia of usual type" EXACT [NCIT:C27941]
synonym: "ordinary intraductal breast hyperplasia" EXACT [NCIT:C27941]
synonym: "UDH" EXACT [NCIT:C27941]
xref: EFO:1000612 {source="MONDO:equivalentTo"}
xref: ICD9:611.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27941 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000612"}
xref: SCTID:472905007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C3532429 {source="MONDO:equivalentTo", source="NCIT:C27941"}
is_a: MONDO:0004007 {source="NCIT:C27941"} ! breast intraductal proliferative lesion
is_a: MONDO:0005043 {source="EFO:1000612", source="NCIT:C27941/inferred"} ! hyperplasia
property_value: exactMatch http://identifiers.org/snomedct/472905007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3532429
property_value: exactMatch NCIT:C27941

[Term]
id: MONDO:0006485
name: uterine carcinosarcoma
def: "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." [NCIT:C42700]
synonym: "carcinosarcoma of the uterus" EXACT [NCIT:C42700]
synonym: "malignant mixed mesodermal (Mullerian) tumor of the uterus" EXACT [NCIT:C42700]
synonym: "malignant mixed mesodermal (Müllerian) tumor of the uterus" EXACT [NCIT:C42700]
synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171, NCIT:C9180]
synonym: "uterine carcinosarcoma" EXACT [NCIT:C42700]
synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumor" RELATED [ONCOTREE:UCS]
synonym: "uterine malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C42700]
synonym: "uterine malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C42700]
synonym: "uterus carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6171 {source="MONDO:equivalentTo"}
xref: EFO:1000613 {source="MONDO:equivalentTo"}
xref: MESH:D012192 {source="MONDO:equivalentTo", source="EFO:1000613"}
xref: NCIT:C42700 {source="MONDO:equivalentTo", source="DOID:6171", source="EFO:1000613"}
xref: ONCOTREE:UCS {source="MONDO:equivalentTo"}
xref: SCTID:702369008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20", source="DOID:6171"}
xref: UMLS:C0280630 {source="MONDO:equivalentTo", source="DOID:6171", source="NCIT:C42700"}
is_a: MONDO:0002715 {source="DOID:6171/inferred", source="MONDO:Redundant", source="NCIT:C42700", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine cancer
is_a: MONDO:0002928 {source="MONDO:Redundant", source="MONDOLEX:0006485", source="NCIT:C42700/inferred"} ! carcinosarcoma
property_value: exactMatch DOID:6171
property_value: exactMatch http://identifiers.org/mesh/D012192
property_value: exactMatch http://identifiers.org/snomedct/702369008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280630
property_value: exactMatch NCIT:C42700

[Term]
id: MONDO:0006486
name: uveal melanoma
def: "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." [NCIT:P378]
subset: ordo_disease {source="Orphanet:39044"}
synonym: "choroidal melanoma" EXACT [Orphanet:39044]
synonym: "intraocular melanoma" EXACT [NCIT:C7712]
synonym: "iris melanoma" EXACT [Orphanet:39044]
synonym: "melanoma (disease) of uvea" EXACT []
synonym: "melanoma of the uvea" EXACT [NCIT:C7712]
synonym: "melanoma of uvea" EXACT [DOID:6039, NCIT:C7712]
synonym: "melanoma, uveal, malignant" EXACT [NCIT:C7712]
synonym: "uvea melanoma" EXACT []
synonym: "uvea melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "uveal melanoma" EXACT [MONDO:0018313]
xref: DOID:6039 {source="MONDO:equivalentTo"}
xref: EFO:1000616 {source="MONDO:equivalentTo"}
xref: GARD:0008621 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C69.3 {source="Orphanet:39044", source="ORDO:39044/ntbt"}
xref: MedDRA:10061252 {source="ORDO:39044/e", source="Orphanet:39044"}
xref: MESH:C536494 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044"}
xref: NCIT:C7712 {source="DOID:6039", source="MONDO:kboom-pr-0.84/0.58/0.63", source="MONDO:equivalentTo", source="EFO:1000616"}
xref: ONCOTREE:UM {source="MONDO:equivalentTo"}
xref: Orphanet:39044 {source="DOID:6039", source="MONDO:equivalentTo"}
xref: UMLS:C0220633 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044", source="NCIT:C7712"}
is_a: MONDO:0002659 {source="DOID:6039", source="MONDO:Redundant", source="NCIT:C7712"} ! uveal cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C7712", source="ONCOTREE:UM"} ! ocular melanoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare
property_value: exactMatch DOID:6039
property_value: exactMatch http://identifiers.org/meddra/10061252
property_value: exactMatch http://identifiers.org/mesh/C536494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346373
property_value: exactMatch NCIT:C7712
property_value: exactMatch Orphanet:39044

[Term]
id: MONDO:0006487
name: vaginal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." [NCIT:C40261]
synonym: "vaginal adenoid cystic cancer" EXACT [NCIT:C40261]
synonym: "vaginal adenoid cystic carcinoma" EXACT [NCIT:C40261]
xref: EFO:1000617 {source="MONDO:equivalentTo"}
xref: NCIT:C40261 {source="EFO:1000617", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C1519912 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40261"}
is_a: MONDO:0004971 {source="EFO:1000617", source="MONDOLEX:0006487", source="NCIT:C40261"} ! adenoid cystic carcinoma
is_a: MONDO:0020653 ! vaginal adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519912
property_value: exactMatch NCIT:C40261

[Term]
id: MONDO:0006488
name: vaginal carcinosarcoma
def: "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." [NCIT:C40278]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136]
synonym: "vaginal carcinosarcoma" EXACT [NCIT:C40278]
synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [NCIT:C40278]
synonym: "vaginal malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40278]
synonym: "vaginal malignant mixed Mullerian tumor" RELATED [DOID:136]
synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136]
xref: DOID:136 {source="MONDO:equivalentTo"}
xref: EFO:1000618 {source="MONDO:equivalentTo"}
xref: NCIT:C40278 {source="EFO:1000618", source="MONDO:equivalentTo", source="DOID:136"}
xref: UMLS:C1519918 {source="MONDO:equivalentTo", source="NCIT:C40278", source="DOID:136"}
is_a: MONDO:0037746 {source="NCIT:C40278"} ! malignant vaginal mixed epithelial and mesenchymal neoplasm
relationship: excluded_subClassOf MONDO:0015867 {source="DOID:136"} ! vaginal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1519924
property_value: exactMatch DOID:136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519918
property_value: exactMatch NCIT:C40278

[Term]
id: MONDO:0006489
name: vaginal melanoma
def: "A primary malignant neoplasm of the vagina composed of malignant melanocytes." [NCIT:C27394]
synonym: "melanoma (disease) of vagina" EXACT []
synonym: "melanoma of the vagina" EXACT [NCIT:C27394]
synonym: "melanoma of vagina" EXACT [NCIT:C27394]
synonym: "mucosal melanoma of the vulva/vagina" BROAD [ONCOTREE:VMM]
synonym: "vagina melanoma" EXACT []
synonym: "vagina melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "vaginal melanoma" EXACT [NCIT:C27394]
xref: EFO:1000619 {source="MONDO:equivalentTo"}
xref: NCIT:C27394 {source="DesignPattern", source="EFO:1000619", source="ONCOTREE:VMM", source="MONDO:equivalentTo"}
xref: ONCOTREE:VMM {source="MONDO:equivalentTo"}
xref: UMLS:C2004576 {source="MEDGEN:kboom-pr98-c99", source="ONCOTREE:VMM", source="MONDO:equivalentTo", source="NCIT:C27394"}
is_a: MONDO:0000544 {source="NCIT:C27394"} ! mucosal melanoma
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C27394/inferred"} ! vaginal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004576
property_value: exactMatch NCIT:C27394

[Term]
id: MONDO:0006490
name: vaginal squamous cell carcinoma
def: "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." [NCIT:P378]
synonym: "carcinoma of vagina squamous cell" EXACT [MONDO:patterns/carcinoma]
synonym: "epidermoid carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "epidermoid carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "epidermoid cell carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "epidermoid cell carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "squamous cell carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "squamous cell carcinoma of the vulva/vagina" RELATED [ONCOTREE:VSC]
synonym: "squamous cell carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "vagina epidermoid carcinoma" EXACT [NCIT:C7736]
synonym: "vagina epidermoid cell carcinoma" EXACT [NCIT:C7736]
synonym: "vagina squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7736]
synonym: "vaginal epidermoid carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal epidermoid cell carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell cancer" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell cancer, NOS" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C7736]
xref: EFO:1000620 {source="MONDO:equivalentTo"}
xref: NCIT:C7736 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:1000620", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:VSC {source="MONDO:equivalentTo"}
xref: SCTID:105121000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C0238518 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7736"}
is_a: MONDO:0001806 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal squamous tumor
is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Redundant", source="MONDOLEX:0006490", source="NCIT:C7736", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0015867 {source="MONDO:Redundant", source="MONDOLEX:0006490", source="NCIT:C7736", source="OWLReasoner:2017"} ! vaginal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/105121000119102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238518
property_value: exactMatch NCIT:C7736

[Term]
id: MONDO:0006491
name: vulvar lichen sclerosus
def: "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." [NCIT:C27723]
synonym: "lichen sclerosus et atrophicus of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva lichen sclerosus et atrophicus" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar lichen sclerosus" EXACT [NCIT:C27723]
xref: EFO:1000623 {source="MONDO:equivalentTo"}
xref: MESH:D007724 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27723 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000623"}
xref: UMLS:C0022783 {source="MONDO:equivalentTo", source="NCIT:C27723"}
is_a: MONDO:0001938 {source="NCIT:C27723"} ! vulvar dystrophy
is_a: MONDO:0007899 {source="MONDO:Redundant", source="NCIT:C27723"} ! lichen sclerosus et atrophicus
property_value: exactMatch http://identifiers.org/mesh/D007724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022783
property_value: exactMatch NCIT:C27723

[Term]
id: MONDO:0006492
name: obsolete vulvar squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0002210

[Term]
id: MONDO:0006493
name: Warthin tumor
def: "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." [NCIT:C2854]
subset: gard_rare {source="GARD:0008569"}
synonym: "adenolymphoma" EXACT [NCIT:C2854]
synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854]
synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569]
synonym: "Warthin tumor" EXACT [NCIT:C2854]
synonym: "Warthin's tumor" EXACT [NCIT:C2854]
xref: EFO:1000625 {source="MONDO:equivalentTo"}
xref: GARD:0008569 {source="MONDO:equivalentTo"}
xref: ICDO:8561/0 {source="NCIT:C2854"}
xref: MESH:D000235 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2854 {source="MONDO:equivalentTo", source="EFO:1000625", source="exact-label-match"}
xref: SCTID:422470007 {source="MONDO:equivalentTo"}
xref: UMLS:C0001429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2854"}
is_a: MONDO:0006180 ! digestive system adenoma
is_a: MONDO:0021460 {source="NCIT:C2854", source="linkedlifedata"} ! benign neoplasm of salivary gland
is_a: MONDO:0036976 {source="MONDO:Redundant", source="NCIT:C2854"} ! benign epithelial neoplasm
property_value: exactMatch http://identifiers.org/mesh/D000235
property_value: exactMatch http://identifiers.org/snomedct/422470007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001429
property_value: exactMatch NCIT:C2854
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor xsd:anyURI {source="GARD:0008569"}

[Term]
id: MONDO:0006494
name: obsolete thyroid disease
is_obsolete: true
replaced_by: MONDO:0003240

[Term]
id: MONDO:0006495
name: obsolete marginal zone B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0017604

[Term]
id: MONDO:0006496
name: palsy
def: "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" [MESH:D010243]
synonym: "Plegia" EXACT [MESH:D010243]
synonym: "Plegias" EXACT [MESH:D010243]
xref: EFO:1000631 {source="MONDO:equivalentTo"}
xref: MESH:D010243 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Wikipedia:Palsy {source="EFO:1000631"}
is_a: MONDO:0002602 {source="EFO:1000631", source="https://github.com/monarch-initiative/mondo/issues/622"} ! central nervous system disease
relationship: excluded_subClassOf MONDO:0005071 {source="EFO:1000631", source="MESH:D010243/inferred"} ! nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/D010243

[Term]
id: MONDO:0006497
name: cerebral palsy
def: "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." [NCIT:P378]
synonym: "infantile cerebral palsy" EXACT [DOID:1969]
xref: COHD:4134120 {source="MONDO:equivalentTo"}
xref: CSP:0723-4729 {source="DOID:1969"}
xref: DOID:1969 {source="MONDO:equivalentTo"}
xref: EFO:1000632 {source="MONDO:equivalentTo"}
xref: GARD:0010450 {source="MONDO:equivalentTo"}
xref: HP:0100021 {source="MONDO:otherHierarchy", source="EFO:1000632"}
xref: ICD10:G80 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: ICD10:G80.9 {source="DOID:1969"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s", source="DOID:1969"}
xref: ICD9:343.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D002547 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: NCIT:C34460 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1969"}
xref: SCTID:128188000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05", source="DOID:1969"}
xref: UMLS:C0007789 {source="NCIT:C34460", source="MONDO:equivalentTo", source="DOID:1969"}
is_a: MONDO:0006496 {source="EFO:1000632"} ! palsy
is_a: MONDO:0044996 ! cerebral cortex disease
relationship: excluded_subClassOf MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C34460"} ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/1178005
property_value: closeMatch http://identifiers.org/snomedct/155024003
property_value: closeMatch http://identifiers.org/snomedct/267696006
property_value: closeMatch http://identifiers.org/snomedct/270488006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029806
property_value: exactMatch DOID:1969
property_value: exactMatch http://identifiers.org/mesh/D002547
property_value: exactMatch http://identifiers.org/snomedct/128188000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007789
property_value: exactMatch NCIT:C34460

[Term]
id: MONDO:0006498
name: adenomatous colon polyp
def: "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." [NCIT:P378]
synonym: "adenomatous polyp of colon" EXACT [NCIT:C96479]
synonym: "adenomatous polyp of the colon" EXACT [NCIT:C96479]
synonym: "colon adenomatous polyp" EXACT [NCIT:C96479]
synonym: "colonic adenomatous polyp" EXACT [NCIT:C96479]
xref: EFO:1000633 {source="MONDO:equivalentTo"}
xref: HP:0005227 {source="MONDO:otherHierarchy", source="EFO:1000633"}
xref: NCIT:C96479 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:428054006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0000527 {source="NCIT:C96479"} ! colon adenoma
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96479", source="linkedlifedata"} ! polyp of colon
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868071
property_value: exactMatch http://identifiers.org/snomedct/428054006
property_value: exactMatch NCIT:C96479

[Term]
id: MONDO:0006499
name: hamartoma (disease)
def: "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." [NCIT:P378]
synonym: "hamartoma" EXACT [MONDO:ambiguous, NCIT:C3075]
xref: EFO:1000634 {source="MONDO:equivalentTo"}
xref: HP:0010566 {source="MONDO:otherHierarchy", source="EFO:1000634", source="ontobio"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006222 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3075 {source="MONDO:equivalentTo"}
xref: SCTID:400006008 {source="MONDO:kboom-pr-1.00/0.84/14.75", source="MONDO:equivalentTo"}
xref: UMLS:C0018552 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3075", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:1000634", source="MESH:D006222"} ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/mesh/D006222
property_value: exactMatch http://identifiers.org/snomedct/400006008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018552
property_value: exactMatch NCIT:C3075

[Term]
id: MONDO:0006500
name: hemangioma
def: "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." [NCIT:C3085]
synonym: "angioma" RELATED [NCIT:C3085]
synonym: "benign angioma" RELATED [NCIT:C3085]
synonym: "benign hemangioma" EXACT [NCIT:C3085]
synonym: "hemangioma" EXACT [NCIT:C3085]
synonym: "hemangioma, benign" EXACT [NCIT:C3085]
xref: COHD:441818 {source="MONDO:equivalentTo"}
xref: DOID:255 {source="MONDO:equivalentTo"}
xref: EFO:1000635 {source="MONDO:equivalentTo"}
xref: GARD:0010759 {source="MONDO:equivalentTo"}
xref: HP:0001028 {source="MONDO:otherHierarchy", source="EFO:1000635"}
xref: ICD10:D18.0 {source="DOID:255"}
xref: ICD10:D18.00 {source="DOID:255"}
xref: ICD9:228.0 {source="DOID:255"}
xref: ICD9:228.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:255"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9120/0 {source="NCIT:C3085"}
xref: MESH:D006391 {source="MONDO:equivalentTo", source="DOID:255"}
xref: NCIT:C3085 {source="MONDO:equivalentTo", source="DOID:255", source="exact-label-match"}
xref: ONCOTREE:HEMA {source="MONDO:equivalentTo"}
xref: SCTID:400210000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/8.02", source="DOID:255"}
xref: UMLS:C0018916 {source="NCIT:C3085", source="MONDO:equivalentTo", source="DOID:255"}
is_a: MONDO:0019063 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211219"} ! vascular anomaly
is_a: MONDO:0024286 {source="MONDO:Redundant", source="NCIT:C3085"} ! benign blood vessel neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154625006
property_value: closeMatch http://identifiers.org/snomedct/189192007
property_value: closeMatch http://identifiers.org/snomedct/189193002
property_value: closeMatch http://identifiers.org/snomedct/189194008
property_value: closeMatch http://identifiers.org/snomedct/189199003
property_value: closeMatch http://identifiers.org/snomedct/189863005
property_value: closeMatch http://identifiers.org/snomedct/2099007
property_value: closeMatch http://identifiers.org/snomedct/253053003
property_value: closeMatch http://identifiers.org/snomedct/254822005
property_value: closeMatch http://identifiers.org/snomedct/269646001
property_value: closeMatch http://identifiers.org/snomedct/367337005
property_value: closeMatch http://identifiers.org/snomedct/93474003
property_value: exactMatch DOID:255
property_value: exactMatch http://identifiers.org/mesh/D006391
property_value: exactMatch http://identifiers.org/snomedct/400210000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018916
property_value: exactMatch NCIT:C3085

[Term]
id: MONDO:0006501
name: inflammatory skin disease
def: "Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications. These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual." [EFO:1000636]
comment: TODO merge into MONDO:0002406
xref: EFO:1000636 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="EFO:1000636"} ! skin disease

[Term]
id: MONDO:0006502
name: acute respiratory distress syndrome
def: "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." [NCIT:C3353]
subset: gard_rare
synonym: "acute lung injury" RELATED [GARD:0005698]
synonym: "acute respiratory distress syndrome" RELATED [GARD:0005698]
synonym: "ALI" RELATED [GARD:0005698]
synonym: "ARDS" EXACT [CSP2005:2596-8861, DOID:11394]
synonym: "increased-permeability pulmonary edema" RELATED [GARD:0005698]
synonym: "non-cardiogenic pulmonary edema" RELATED [DOID:11394, GARD:0005698]
synonym: "shock lung" EXACT [DOID:11394, GARD:0005698, MTHICD9_2006:518.5]
synonym: "Stiff lung" RELATED [GARD:0005698]
xref: COHD:4195694 {source="MONDO:equivalentTo"}
xref: EFO:1000637 {source="MONDO:equivalentTo"}
xref: GARD:0005698 {source="MONDO:equivalentTo"}
xref: ICD10:J80 {source="MONDO:equivalentTo", source="ORDO:70578/e", source="DOID:11394", source="Orphanet:70578"}
xref: MedDRA:10001052 {source="EFO:1000637"}
xref: NCIT:C3353 {source="MONDO:equivalentTo", source="DOID:11394", source="MONDO:kboom-pr-0.95/0.86/0.77", source="EFO:1000637"}
is_a: MONDO:0001208 {source="DOID:11394"} ! acute respiratory failure
is_a: MONDO:0002254 {source="MONDOLEX:0006502", source="NCIT:C3353"} ! syndromic disease
is_a: MONDO:0017027 {source="Orphanet:70578"} ! primary interstitial lung disease specific to adulthood
property_value: closeMatch http://identifiers.org/meddra/10001052
property_value: closeMatch http://identifiers.org/snomedct/155627006
property_value: closeMatch http://identifiers.org/snomedct/196150004
property_value: closeMatch http://identifiers.org/snomedct/196154008
property_value: closeMatch http://identifiers.org/snomedct/206281003
property_value: closeMatch http://identifiers.org/snomedct/266411000
property_value: exactMatch NCIT:C3353

[Term]
id: MONDO:0006503
name: obsolete episodic ataxia
is_obsolete: true
replaced_by: MONDO:0016227

[Term]
id: MONDO:0006504
name: acquired metabolic disease
def: "An instance of metabolic disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired metabolic disease" EXACT [MONDO:patterns/acquired]
xref: DOID:0060158 {source="EFO:1000639", source="MONDO:equivalentTo"}
xref: EFO:1000639 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="DOID:0060158", source="EFO:1000639", source="MONDO:Entailed", source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch DOID:0060158

[Term]
id: MONDO:0006505
name: basal ganglia cerebrovascular disease
def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." [MESH:D020144]
synonym: "cerebrovascular disorder of collection of basal ganglia" EXACT [MONDO:design_pattern]
synonym: "collection of basal ganglia cerebrovascular disorder" EXACT [MONDO:patterns/location]
xref: DOID:10991 {source="MONDO:equivalentTo", source="EFO:1000640"}
xref: EFO:1000640 {source="MONDO:equivalentTo"}
xref: MESH:D020144 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10991"}
xref: UMLS:C0751739 {source="MONDO:equivalentTo", source="DOID:10991"}
is_a: MONDO:0003996 {source="DOID:10991", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! basal ganglia disease
is_a: MONDO:0011057 {source="DOID:10991", source="EFO:1000640", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! cerebrovascular disorder
property_value: exactMatch DOID:10991
property_value: exactMatch http://identifiers.org/mesh/D020144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751739

[Term]
id: MONDO:0006506
name: congenital nonspherocytic hemolytic anemia
def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." [MESH:D000746]
synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [CSP2005:0427-1697, DOID:2861]
synonym: "HNSHA" EXACT [DOID:2861]
xref: DOID:2861 {source="EFO:1000641", source="MONDO:equivalentTo"}
xref: EFO:1000641 {source="MONDO:equivalentTo"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000746 {source="DOID:2861", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:301317008 {source="DOID:2861", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002882 {source="DOID:2861", source="MONDO:equivalentTo"}
is_a: MONDO:0003689 {xref="https://github.com/monarch-initiative/mondo/issues/1503", xref="https://orcid.org/0000-0001-6330-7526"} ! familial hemolytic anemia
is_a: MONDO:0019050 {source="EFO:1000641"} ! inherited hemoglobinopathy
property_value: closeMatch http://identifiers.org/snomedct/300389006
property_value: closeMatch http://identifiers.org/snomedct/82775009
property_value: exactMatch DOID:2861
property_value: exactMatch http://identifiers.org/mesh/D000746
property_value: exactMatch http://identifiers.org/snomedct/301317008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002882

[Term]
id: MONDO:0006507
name: hereditary hemochromatosis
def: "An inherited metabolic disorder characterized by iron accumulation in the tissues." [NCIT:P378]
comment: Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052
synonym: "diabetes bronze" EXACT [CSP2005:1849-4292, DOID:2352]
synonym: "haemochromatosis" BROAD [DOID:2352]
synonym: "hemochromatosis" BROAD [DOID:2352]
synonym: "hemochromatosis, hereditary" EXACT [OMIM:235200]
synonym: "iron storage disorder" EXACT [CSP2005:1630-3927, DOID:2352]
xref: COHD:4148231 {source="MONDO:equivalentTo"}
xref: DOID:2352 {source="MONDO:equivalentTo", source="EFO:1000642"}
xref: EFO:1000642 {source="MONDO:equivalentTo"}
xref: GARD:0010746 {source="MONDO:equivalentTo"}
xref: ICD10:E83.11 {source="DOID:2352"}
xref: ICD10:E83.110 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: ICD10:E83.119 {source="DOID:2352"}
xref: MESH:D006432 {source="DOID:2352", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84481 {source="DOID:2352", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:235200 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: SCTID:399187006 {source="DOID:2352", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.67/0.23"}
is_a: MONDO:0001436 {source="NCIT:C84481"} ! hemosiderosis
is_a: MONDO:0004689 {source="DOID:2352", source="MESH:D006432"} ! inborn metal metabolism disorder
is_a: MONDO:0017763 {source="Orphanet:220489"} ! disorder of iron metabolism and transport
property_value: closeMatch http://identifiers.org/snomedct/154751003
property_value: closeMatch http://identifiers.org/snomedct/267504005
property_value: closeMatch http://identifiers.org/snomedct/399144008
property_value: closeMatch http://identifiers.org/snomedct/86781004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018995
property_value: closeMatch Orphanet:139498
property_value: exactMatch DOID:2352
property_value: exactMatch http://identifiers.org/mesh/D006432
property_value: exactMatch http://identifiers.org/snomedct/399187006
property_value: exactMatch NCIT:C84481

[Term]
id: MONDO:0006508
name: obsolete infantile epileptic encephalopathy
is_obsolete: true
replaced_by: MONDO:0016021

[Term]
id: MONDO:0006509
name: papillary carcinoma
def: "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." [NCIT:C2927]
synonym: "papillary carcinoma" EXACT [DOID:3113, NCIT:C2927]
synonym: "papillary carcinoma (morphologic abnormality)" EXACT [DOID:3113]
synonym: "papillary carcinoma NOS (morphologic abnormality)" EXACT [DOID:3113]
xref: DOID:3113 {source="MONDO:equivalentTo", source="EFO:1000646"}
xref: EFO:1000646 {source="MONDO:equivalentTo"}
xref: ICDO:8050/3 {source="NCIT:C2927"}
xref: MESH:D002291 {source="DOID:3113", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2927 {source="DOID:3113", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000646"}
xref: UMLS:C0007133 {source="DOID:3113", source="NCIT:C2927", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="DOID:3113", source="MESH:D002291", source="MONDOLEX:0006509", source="NCIT:C2927"} ! carcinoma
is_a: MONDO:0021096 {source="NCIT:C2927"} ! papillary epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189562005
property_value: closeMatch http://identifiers.org/snomedct/25910003
property_value: exactMatch DOID:3113
property_value: exactMatch http://identifiers.org/mesh/D002291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007133
property_value: exactMatch NCIT:C2927

[Term]
id: MONDO:0006510
name: renal tubular transport disease
def: "Genetic defects in the selective or non-selective transport functions of the kidney tubules." [MESH:D015499]
synonym: "disorder of renal absorption" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of renal absorption" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "inborn renal tubular transport disorder" EXACT [CSP2005:1849-8301, DOID:447]
synonym: "kidney tubular transport, inborn error" RELATED [MESH:D015499]
synonym: "kidney tubular transport, inborn errors" RELATED [MESH:D015499]
synonym: "renal absorption disease" EXACT [MONDO:design_pattern]
synonym: "renal tubular transport errors" RELATED [MESH:D015499]
synonym: "renal tubular transport, inborn error" RELATED [MESH:D015499]
xref: DOID:447 {source="MONDO:equivalentTo", source="EFO:1000647"}
xref: EFO:1000647 {source="MONDO:equivalentTo"}
xref: MESH:D015499 {source="DOID:447", source="MONDO:equivalentTo"}
xref: UMLS:C0035091 {source="DOID:447", source="MONDO:equivalentTo"}
is_a: MONDO:0019744 ! rare renal tubular disease
relationship: excluded_subClassOf MONDO:0019052 {source="MESH:D015499"} ! inborn errors of metabolism
property_value: exactMatch DOID:447
property_value: exactMatch http://identifiers.org/mesh/D015499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035091

[Term]
id: MONDO:0006511
name: obsolete developmental dysplasia of the hip
is_obsolete: true
replaced_by: MONDO:0000158

[Term]
id: MONDO:0006512
name: estrogen-receptor positive breast cancer
def: "a subtype of breast cancer that is estrogen-receptor positive" [EFO:1000649]
synonym: "ER+ breast cancer" EXACT []
synonym: "estrogen receptor positive breast cancer" EXACT []
xref: DOID:0060075 {source="MONDO:equivalentTo"}
xref: EFO:1000649 {source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="EFO:1000649", source="MONDOLEX:0006512"} ! breast carcinoma
property_value: exactMatch DOID:0060075

[Term]
id: MONDO:0006513
name: estrogen-receptor negative breast cancer
def: "a subtype of breast cancer that is estrogen-receptor negative" [EFO:1000650]
synonym: "ER- breast cancer" EXACT []
xref: DOID:0060076 {source="MONDO:equivalentTo"}
xref: EFO:1000650 {source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="EFO:1000650", source="MONDOLEX:0006513"} ! breast carcinoma
property_value: exactMatch DOID:0060076

[Term]
id: MONDO:0006514
name: recalcitrant atopic dermatitis
def: "moderate to severe atopic dermatitis with allergic sensitisation" [EFO:1000651]
xref: EFO:1000651 {source="MONDO:equivalentTo"}
xref: PMID:25935106 {source="EFO:1000651"}
is_a: MONDO:0004980 {source="EFO:1000651", source="MONDOLEX:0006514"} ! atopic eczema

[Term]
id: MONDO:0006515
name: acute pancreatitis
def: "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." [NCIT:P378]
synonym: "acute necrotizing pancreatitis" EXACT [DOID:2913]
synonym: "acute pancreatitis (disorder) [ambiguous]" EXACT [DOID:2913]
synonym: "acute pancreatitis NOS" RELATED EXCLUDE [DOID:2913]
synonym: "pancreatitis necrotizing" EXACT [DOID:2913, MTH:NOCODE]
synonym: "pancreatitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:199074 {source="MONDO:equivalentTo"}
xref: DOID:2913 {source="MONDO:equivalentTo"}
xref: EFO:1000652 {source="MONDO:equivalentTo"}
xref: HP:0001735 {source="EFO:1000652", source="MONDO:otherHierarchy"}
xref: ICD10:K85 {source="DOID:2913"}
xref: ICD10:K85.9 {source="DOID:2913"}
xref: ICD9:577.0 {source="DOID:2913"}
xref: MESH:D019283 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C95437 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:2913"}
xref: SCTID:7881005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0001339 {source="NCIT:C95437", source="MONDO:equivalentTo", source="DOID:2913"}
xref: UMLS:C0267941 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
xref: Wikipedia:Acute_pancreatitis {source="EFO:1000652"}
is_a: MONDO:0004982 {source="DOID:2913", source="EFO:1000652", source="MESH:D019283", source="MONDO:Redundant", source="NCIT:C95437", source="linkedlifedata", source="linkedlifedata/inferred"} ! pancreatitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/155834006
property_value: closeMatch http://identifiers.org/snomedct/197456007
property_value: closeMatch http://identifiers.org/snomedct/197457003
property_value: closeMatch http://identifiers.org/snomedct/197461009
property_value: closeMatch http://identifiers.org/snomedct/266476001
property_value: closeMatch http://identifiers.org/snomedct/39726008
property_value: exactMatch DOID:2913
property_value: exactMatch http://identifiers.org/mesh/D019283
property_value: exactMatch http://identifiers.org/snomedct/7881005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267941
property_value: exactMatch NCIT:C95437

[Term]
id: MONDO:0006516
name: sarcopenia
def: "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." [MESH:D055948]
xref: EFO:1000653 {source="MONDO:equivalentTo"}
xref: ICD10:M62.84 {source="MONDO:equivalentTo"}
xref: MedDRA:10063024 {source="EFO:1000653"}
xref: MESH:D055948 {source="MONDO:equivalentTo", source="EFO:1000653", source="MONDO:ontobio"}
xref: UMLS:C0872084 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005218 {source="EFO:1000653"} ! muscular disease
property_value: closeMatch http://identifiers.org/meddra/10063024
property_value: exactMatch http://identifiers.org/mesh/D055948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0872084

[Term]
id: MONDO:0006517
name: childhood malignant neoplasm
def: "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." [NCIT:C4005]
synonym: "childhood cancer" EXACT [NCIT:C4005]
synonym: "childhood malignant neoplasm" EXACT [NCIT:C4005]
synonym: "childhood neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant childhood neoplasm" EXACT [NCIT:C4005]
synonym: "malignant childhood tumor" EXACT [NCIT:C4005]
synonym: "malignant neoplasm" EXACT [NCIT:C4005]
synonym: "malignant neoplasm" NARROW [NCIT:C4005]
synonym: "malignant pediatric neoplasm" EXACT [NCIT:C4005]
synonym: "malignant pediatric tumor" EXACT [NCIT:C4005]
synonym: "pediatric cancer" EXACT [NCIT:C4005]
xref: EFO:1000654 {source="MONDO:equivalentTo"}
xref: NCIT:C4005 {source="MONDO:equivalentTo", source="kboom:pr0.76-conf4.77"}
xref: UMLS:C0278704 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4005"}
is_a: MONDO:0004992 {source="EFO:1000654", source="MONDO:Redundant", source="MONDOLEX:0006517", source="NCIT:C4005"} ! cancer
is_a: MONDO:0021079 {source="MONDO:Redundant", source="MONDOLEX:0006517", source="NCIT:C4005"} ! childhood neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278704
property_value: exactMatch NCIT:C4005

[Term]
id: MONDO:0006518
name: sporadic Creutzfeld Jacob disease
def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." [EFO:1000656]
xref: EFO:1000656 {source="MONDO:equivalentTo"}
is_a: MONDO:0005357 {source="EFO:1000656"} ! Creutzfeldt Jacob disease

[Term]
id: MONDO:0006519
name: rectal cancer
def: "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7418]
synonym: "cancer of rectum" EXACT [DOID:1993, MONDO:patterns/cancer]
synonym: "carcinoma of rectum" EXACT [DOID:1993]
synonym: "carcinoma of the rectum" EXACT [DOID:1993, NCIT:C9382]
synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM_2006:154.1, MONDO:patterns/cancer, NCIT:C7418]
synonym: "malignant neoplasm of the rectum" EXACT [NCIT:C7418]
synonym: "malignant rectal neoplasm" EXACT [NCIT:C7418]
synonym: "malignant rectal tumor" EXACT [DOID:1993, NCIT:C7418]
synonym: "malignant rectum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant rectum tumor" EXACT [DOID:1993]
synonym: "malignant tumor of rectum" EXACT [NCIT:C7418]
synonym: "malignant tumor of the rectum" EXACT [NCIT:C7418]
synonym: "rectal cancer" EXACT EXCLUDE [DOID:1993]
synonym: "rectum cancer" EXACT [MONDO:patterns/location]
xref: DOID:1993 {source="MONDO:equivalentTo", source="EFO:1000657"}
xref: EFO:1000657 {source="MONDO:equivalentTo"}
xref: ICD10:C20 {source="DOID:1993"}
xref: ICD9:154.1 {source="DOID:1993", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7418 {source="DOID:1993", source="MONDO:equivalentTo"}
xref: SCTID:363351006 {source="DOID:1993", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.75/2.31"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C7418", source="linkedlifedata"} ! rectal neoplasm
is_a: MONDO:0005575 {source="DOID:1993", source="DOID:1993/inferred", source="EFO:1000657", source="MONDO:Redundant", source="NCIT:C7418", source="linkedlifedata"} ! colorectal cancer
property_value: closeMatch http://identifiers.org/snomedct/154466004
property_value: closeMatch http://identifiers.org/snomedct/187761007
property_value: closeMatch http://identifiers.org/snomedct/269545009
property_value: closeMatch http://identifiers.org/snomedct/93984006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007113
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949022
property_value: exactMatch DOID:1993
property_value: exactMatch http://identifiers.org/snomedct/363351006
property_value: exactMatch NCIT:C7418

[Term]
id: MONDO:0006520
name: Achenbach syndrome
def: "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." [NCIT:C35467]
synonym: "Achenbach syndrome" EXACT [NCIT:C35467]
synonym: "paroxysmal hematoma of the finger" EXACT [DOID:6687]
xref: DOID:6687 {source="EFO:1000661", source="MONDO:equivalentTo"}
xref: EFO:1000661 {source="MONDO:equivalentTo"}
xref: NCIT:C35467 {source="DOID:6687", source="MONDO:equivalentTo", source="NCIT:C35467"}
xref: PMID:22915534 {source="EFO:1000661"}
xref: SCTID:238824006 {source="DOID:6687", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002254 {source="MONDOLEX:0006520", source="NCIT:C35467"} ! syndromic disease
is_a: MONDO:0005093 {source="DOID:6687", source="EFO:1000661", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0473563
property_value: exactMatch DOID:6687
property_value: exactMatch http://identifiers.org/snomedct/238824006
property_value: exactMatch NCIT:C35467

[Term]
id: MONDO:0006521
name: acneiform dermatitis
def: "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." [NCIT:P378]
synonym: "Rash acneiform" EXACT [NCIT:C35277]
xref: DOID:4399 {source="MONDO:equivalentTo", source="EFO:1000662"}
xref: EFO:1000662 {source="MONDO:equivalentTo"}
xref: NCIT:C35277 {source="DOID:4399", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: UMLS:C0234894 {source="DOID:4399", source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="DOID:4399", source="NCIT:C35277"} ! dermatitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175167
property_value: exactMatch DOID:4399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234894
property_value: exactMatch NCIT:C35277

[Term]
id: MONDO:0006522
name: acquired keratosis
def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [NCIT:P378]
synonym: "acquired hyperkeratosis" RELATED [DOID:13072]
synonym: "acquired keratoderma" EXACT [DOID:13072, NCIT:C34746]
synonym: "acquired keratoderma NOS" RELATED EXCLUDE [DOID:13072]
synonym: "acquired keratosis" EXACT [MONDO:patterns/acquired]
synonym: "keratoderma - acquired" EXACT [DOID:13072]
synonym: "keratoderma, acquired" EXACT [DOID:13072, ICD9CM_2006:701.1]
xref: COHD:137951 {source="MONDO:equivalentTo"}
xref: DOID:13072 {source="EFO:1000663", source="MONDO:equivalentTo"}
xref: EFO:1000663 {source="MONDO:equivalentTo"}
xref: ICD9:701.1 {source="DOID:13072", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34746 {source="DOID:13072", source="MONDO:equivalentTo"}
xref: SCTID:400166009 {source="DOID:13072", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006566 {source="DOID:13072", source="EFO:1000663", source="MONDO:Redundant", source="NCIT:C34746", source="linkedlifedata/inferred"} ! keratosis
intersection_of: MONDO:0006566 ! keratosis
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://identifiers.org/snomedct/201053002
property_value: closeMatch http://identifiers.org/snomedct/201064004
property_value: closeMatch http://identifiers.org/snomedct/20637002
property_value: closeMatch http://identifiers.org/snomedct/267805003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022581
property_value: exactMatch DOID:13072
property_value: exactMatch http://identifiers.org/snomedct/400166009
property_value: exactMatch NCIT:C34746

[Term]
id: MONDO:0006523
name: acrodermatitis
def: "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." [NCIT:P378]
subset: gard_rare {source="GARD:0005722"}
xref: CSP:4008-0032 {source="DOID:2722"}
xref: DOID:2722 {source="MONDO:equivalentTo", source="EFO:1000664"}
xref: EFO:1000664 {source="MONDO:equivalentTo"}
xref: GARD:0005722 {source="MONDO:equivalentTo"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000169 {source="MONDO:equivalentTo", source="DOID:2722", source="MONDO:ontobio"}
xref: NCIT:C84532 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2722"}
xref: SCTID:8197001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2722"}
xref: UMLS:C0001197 {source="MONDO:equivalentTo", source="DOID:2722", source="NCIT:C84532"}
is_a: MONDO:0002406 {source="DOID:2722", source="MESH:D000169", source="NCIT:C84532"} ! dermatitis
property_value: exactMatch DOID:2722
property_value: exactMatch http://identifiers.org/mesh/D000169
property_value: exactMatch http://identifiers.org/snomedct/8197001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001197
property_value: exactMatch NCIT:C84532
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis xsd:anyURI {source="GARD:0005722"}

[Term]
id: MONDO:0006524
name: acrodermatitis chronica atrophicans
def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." [DOID:0060344, http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, http://www.dermis.net/dermisroot/en/35111/diagnose.htm]
synonym: "Herxheimer disease" EXACT [DOID:0060344]
synonym: "primary diffuse atrophy" EXACT [DOID:0060344]
xref: DERMO:0002165 {source="DOID:0060344"}
xref: DOID:0060344 {source="MONDO:equivalentTo", source="EFO:1000665"}
xref: EFO:1000665 {source="MONDO:equivalentTo"}
xref: ICD10:L90.4 {source="MONDO:equivalentTo"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="DOID:0060344", source="i2s"}
xref: SCTID:4340003 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C0263421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006523 {source="DOID:0060344", source="EFO:1000665", source="MONDOLEX:0006524", source="linkedlifedata"} ! acrodermatitis
property_value: closeMatch http://identifiers.org/snomedct/201079006
property_value: closeMatch http://identifiers.org/snomedct/201088002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029805
property_value: exactMatch DOID:0060344
property_value: exactMatch http://identifiers.org/snomedct/4340003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263421

[Term]
id: MONDO:0006525
name: allergic contact dermatitis
def: "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." [NCIT:P378]
synonym: "allergic contact dermatitis" EXACT [DOID:3042, NCIT:C26998]
synonym: "allergic form of contact dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease]
xref: COHD:4031019 {source="MONDO:equivalentTo"}
xref: DOID:3042 {source="MONDO:equivalentTo", source="EFO:1000668"}
xref: EFO:1000668 {source="MONDO:equivalentTo"}
xref: ICD10:L23 {source="MONDO:equivalentTo", source="DOID:3042"}
xref: ICD10:L23.9 {source="DOID:3042"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017449 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3042"}
xref: NCIT:C26998 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3042"}
xref: SCTID:238575004 {source="MONDO:equivalentTo", source="DOID:3042", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162820 {source="MONDO:equivalentTo", source="NCIT:C26998", source="DOID:3042"}
is_a: MONDO:0004980 ! atopic eczema
is_a: MONDO:0005480 {source="DOID:3042", source="EFO:1000668", source="MESH:D017449", source="MONDO:Redundant", source="MONDOLEX:0006525", source="NCIT:C26998", source="linkedlifedata"} ! contact dermatitis
property_value: closeMatch http://identifiers.org/snomedct/200841005
property_value: exactMatch DOID:3042
property_value: exactMatch http://identifiers.org/mesh/D017449
property_value: exactMatch http://identifiers.org/snomedct/238575004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162820
property_value: exactMatch NCIT:C26998

[Term]
id: MONDO:0006526
name: allergic urticaria
def: "A urticaria with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of urticaria" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of urticaria (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic urticaria (disease)" EXACT []
xref: COHD:139902 {source="MONDO:equivalentTo"}
xref: DOID:10612 {source="MONDO:equivalentTo", source="EFO:1000669"}
xref: EFO:1000669 {source="MONDO:equivalentTo"}
xref: ICD10:L50.0 {source="DOID:10612", source="MONDO:equivalentTo"}
xref: ICD9:708.0 {source="DOID:10612", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:40178009 {source="DOID:10612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149526 {source="DOID:10612", source="MONDO:equivalentTo"}
xref: Wikipedia:Urticaria#Allergic_urticaria {source="EFO:1000669"}
is_a: MONDO:0004980 ! atopic eczema
is_a: MONDO:0005492 {source="DOID:10612", source="EFO:1000669", source="ICD10:L50.0", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! urticaria (disease)
property_value: closeMatch http://identifiers.org/snomedct/156428000
property_value: closeMatch http://identifiers.org/snomedct/201260002
property_value: exactMatch DOID:10612
property_value: exactMatch http://identifiers.org/snomedct/40178009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149526

[Term]
id: MONDO:0006527
name: anhidrosis
def: "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." [NCIT:P378]
synonym: "absence of sweating" EXACT [DOID:11156]
synonym: "adiaphoresis" EXACT [DOID:11156, NCIT:C34385]
xref: COHD:140490 {source="MONDO:equivalentTo"}
xref: DOID:11156 {source="EFO:1000670", source="MONDO:equivalentTo"}
xref: EFO:1000670 {source="MONDO:equivalentTo"}
xref: ICD10:L74.4 {source="MONDO:equivalentTo", source="DOID:11156"}
xref: ICD9:705.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11156"}
xref: SCTID:39659002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11156"}
is_a: MONDO:0006615 {source="DOID:11156", source="EFO:1000670", source="linkedlifedata"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/14662005
property_value: closeMatch http://identifiers.org/snomedct/156414006
property_value: closeMatch http://identifiers.org/snomedct/201189007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003028
property_value: exactMatch DOID:11156
property_value: exactMatch http://identifiers.org/snomedct/39659002
property_value: exactMatch NCIT:C34385

[Term]
id: MONDO:0006528
name: bacterial exanthem
def: "a bacteria-induced exanthem" [EFO:1000671]
xref: DOID:0050487 {source="EFO:1000671", source="MONDO:equivalentTo"}
xref: EFO:1000671 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="DOID:0050487", source="EFO:1000671"} ! exanthem (disease)
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: exactMatch DOID:0050487

[Term]
id: MONDO:0006529
name: obsolete bullous skin disease
is_obsolete: true
replaced_by: MONDO:0019337

[Term]
id: MONDO:0006530
name: cholesteatoma (disease)
def: "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." [NCIT:P378]
synonym: "cholesteatoma" EXACT [MONDO:ambiguous]
synonym: "congenital cholesteatoma (type)" RELATED [GARD:0010422]
synonym: "primary acquired cholesteatoma (type)" RELATED [GARD:0010422]
synonym: "secondary acquired cholesteatoma (type)" RELATED [GARD:0010422]
xref: COHD:372925 {source="MONDO:equivalentTo"}
xref: DOID:869 {source="MONDO:equivalentTo", source="EFO:1000675"}
xref: EFO:1000675 {source="MONDO:equivalentTo"}
xref: GARD:0010422 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0009797 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H71.9 {source="DOID:869"}
xref: ICD10:H71.90 {source="DOID:869"}
xref: ICD9:385.30 {source="MONDO:equivalentTo", source="DOID:869", source="i2s"}
xref: MESH:D002781 {source="MONDO:equivalentTo", source="DOID:869", source="MONDO:ontobio"}
xref: NCIT:C2944 {source="MONDO:equivalentTo", source="DOID:869", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:363668000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:869"}
xref: UMLS:C0008373 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:869", source="NCIT:C2944"}
is_a: MONDO:0006566 {source="DOID:869", source="EFO:1000675", source="MESH:D002781"} ! keratosis
property_value: closeMatch http://identifiers.org/snomedct/155244001
property_value: closeMatch http://identifiers.org/snomedct/194338004
property_value: closeMatch http://identifiers.org/snomedct/267766007
property_value: closeMatch http://identifiers.org/snomedct/575006
property_value: exactMatch DOID:869
property_value: exactMatch http://identifiers.org/mesh/D002781
property_value: exactMatch http://identifiers.org/snomedct/363668000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008373
property_value: exactMatch NCIT:C2944

[Term]
id: MONDO:0006531
name: cholesteatoma of attic
def: "a cholesteatoma in the attic" [EFO:1000676]
xref: COHD:258441 {source="MONDO:equivalentTo"}
xref: DOID:10963 {source="MONDO:equivalentTo", source="EFO:1000676"}
xref: EFO:1000676 {source="MONDO:equivalentTo"}
xref: ICD10:H71.0 {source="DOID:10963"}
xref: ICD10:H71.00 {source="DOID:10963"}
xref: ICD9:385.31 {source="DOID:10963", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:38708003 {source="DOID:10963", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155489 {source="DOID:10963", source="MONDO:equivalentTo"}
is_a: MONDO:0006533 {source="DOID:10963", source="EFO:1000676", source="linkedlifedata"} ! cholesteatoma of middle ear
property_value: exactMatch DOID:10963
property_value: exactMatch http://identifiers.org/snomedct/38708003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155489

[Term]
id: MONDO:0006532
name: cholesteatoma of external ear
def: "A cholesteatoma (disease) that involves the external ear." [MONDO:patterns/location]
synonym: "cholesteatoma (disease) of external ear" EXACT []
synonym: "external canal cholesteatoma" EXACT [DOID:9462]
synonym: "external ear cholesteatoma (disease)" EXACT [MONDO:patterns/location]
xref: COHD:378434 {source="MONDO:equivalentTo"}
xref: DOID:9462 {source="MONDO:equivalentTo", source="EFO:1000677"}
xref: EFO:1000677 {source="MONDO:equivalentTo"}
xref: ICD10:H60.4 {source="MONDO:equivalentTo", source="DOID:9462"}
xref: ICD10:H60.40 {source="DOID:9462"}
xref: ICD9:380.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:9462"}
xref: SCTID:35247001 {source="MONDO:equivalentTo", source="DOID:9462", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155398 {source="MONDO:equivalentTo", source="DOID:9462"}
is_a: MONDO:0002776 {source="DOID:9462", source="ICD10:H60.4/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! external ear disease
is_a: MONDO:0006530 {source="DOID:9462", source="EFO:1000677", source="MONDO:Redundant", source="linkedlifedata"} ! cholesteatoma (disease)
property_value: exactMatch DOID:9462
property_value: exactMatch http://identifiers.org/snomedct/35247001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155398

[Term]
id: MONDO:0006533
name: cholesteatoma of middle ear
def: "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." [NCIT:P378]
synonym: "cholesteatoma" EXACT EXCLUDE [DOID:10964]
synonym: "cholesteatoma (disease) of middle ear" EXACT []
synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD9CM_2006:385.32]
synonym: "cholesteatoma of middle ear and mastoid" EXACT [DOID:10964, ICD9CM_2006:385.33]
synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [DOID:10964]
synonym: "cholesteatoma of the middle ear" EXACT [DOID:10964, NCIT:C3654]
synonym: "Epidermosis of ear" EXACT [DOID:10964, MTHICD9_2006:385.3]
synonym: "Epidermosis of middle ear" EXACT [DOID:10964]
synonym: "middle ear cholesteatoma" EXACT [DOID:10964]
synonym: "middle ear cholesteatoma (disease)" EXACT [MONDO:patterns/location]
synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [DOID:10964]
xref: COHD:381585 {source="MONDO:equivalentTo"}
xref: DOID:10964 {source="MONDO:equivalentTo", source="EFO:1000678"}
xref: EFO:1000678 {source="MONDO:equivalentTo"}
xref: ICD10:H71 {source="DOID:10964", source="MONDO:equivalentTo"}
xref: ICD9:385.3 {source="DOID:10964"}
xref: ICD9:385.32 {source="DOID:10964"}
xref: ICD9:385.33 {source="DOID:10964", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D018424 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3654 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:194339007 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0155490 {source="DOID:10964", source="MONDO:equivalentTo", source="NCIT:C3654"}
is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Redundant", source="NCIT:C3654", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! middle ear disease
is_a: MONDO:0006530 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Redundant", source="NCIT:C3654", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholesteatoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/194340009
property_value: closeMatch http://identifiers.org/snomedct/360584008
property_value: closeMatch http://identifiers.org/snomedct/39911004
property_value: closeMatch http://identifiers.org/snomedct/87688009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008374
property_value: exactMatch DOID:10964
property_value: exactMatch http://identifiers.org/mesh/D018424
property_value: exactMatch http://identifiers.org/snomedct/194339007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155490
property_value: exactMatch NCIT:C3654

[Term]
id: MONDO:0006534
name: cholinergic urticaria
def: "a type of physical urticarias (or hives) that appears when a person is sweating." [EFO:1000679]
xref: COHD:138501 {source="MONDO:equivalentTo"}
xref: DOID:14443 {source="MONDO:equivalentTo", source="EFO:1000679"}
xref: EFO:1000679 {source="MONDO:equivalentTo"}
xref: ICD10:L50.5 {source="MONDO:equivalentTo", source="DOID:14443"}
xref: ICD9:708.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:14443"}
xref: SCTID:73098005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14443"}
xref: UMLS:C0152230 {source="MONDO:equivalentTo", source="DOID:14443"}
xref: Wikipedia:Cholinergic_urticaria {source="EFO:1000679"}
is_a: MONDO:0006599 {source="DOID:14443", source="EFO:1000679"} ! physical urticaria
property_value: exactMatch DOID:14443
property_value: exactMatch http://identifiers.org/snomedct/73098005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152230

[Term]
id: MONDO:0006535
name: obsolete cicatricial pemphigoid
is_obsolete: true
replaced_by: MONDO:0018746

[Term]
id: MONDO:0006536
name: congenital generalized lipodystrophy (disease)
def: "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." [https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy]
synonym: "Beradinelli-Seip syndrome" EXACT EXCLUDE [DOID:0050585]
synonym: "congenital generalized lipodystrophy" EXACT [MONDO:ambiguous]
synonym: "familial generalized lipodystrophy" EXACT [MONDO:cjm]
synonym: "hereditary generalized lipodystrophy" EXACT [MONDO:patterns/hereditary]
synonym: "lipodystrophy, congenital generalized" EXACT [OMIMPS:608594]
xref: DOID:0050585 {source="EFO:1000681", source="MONDO:equivalentTo"}
xref: EFO:1000681 {source="MONDO:equivalentTo"}
xref: HP:0009059 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIMPS:608594 {source="DOID:0050585", source="MONDO:equivalentTo"}
xref: SCTID:284449005 {source="MONDO:kboom-pr-0.72/0.42/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0020087 ! genetic lipodystrophy
is_a: MONDO:0027766 ! generalized lipodystrophy
intersection_of: MONDO:0027766 ! generalized lipodystrophy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:0050585
property_value: exactMatch http://identifiers.org/snomedct/284449005

[Term]
id: MONDO:0006537
name: conjunctival pigmentation
def: "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." [EFO:1000682]
xref: COHD:381014 {source="MONDO:equivalentTo"}
xref: DOID:12304 {source="EFO:1000682", source="MONDO:equivalentTo"}
xref: EFO:1000682 {source="MONDO:equivalentTo"}
xref: ICD10:H11.13 {source="DOID:12304"}
xref: ICD9:372.55 {source="DOID:12304", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:66081003 {source="DOID:12304", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0155163 {source="DOID:12304", source="MONDO:equivalentTo"}
is_a: MONDO:0001331 {source="DOID:12304", source="linkedlifedata"} ! conjunctival deposit
is_a: MONDO:0006600 {source="DOID:12304", source="EFO:1000682", source="linkedlifedata"} ! pigmentation disease
property_value: closeMatch http://identifiers.org/snomedct/193888007
property_value: closeMatch http://identifiers.org/snomedct/267645009
property_value: exactMatch DOID:12304
property_value: exactMatch http://identifiers.org/snomedct/66081003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155163

[Term]
id: MONDO:0006538
name: obsolete dermatitis herpetiformis
is_obsolete: true
replaced_by: MONDO:0015614

[Term]
id: MONDO:0006539
name: diffuse lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." [NCIT:C6504]
synonym: "diffuse lipomatosis" EXACT [NCIT:C6504]
xref: DOID:3923 {source="MONDO:equivalentTo", source="EFO:1000687"}
xref: EFO:1000687 {source="MONDO:equivalentTo"}
xref: NCIT:C6504 {source="MONDO:equivalentTo", source="DOID:3923", source="exact-label-match"}
xref: UMLS:C1333298 {source="MONDO:equivalentTo", source="NCIT:C6504", source="DOID:3923"}
is_a: MONDO:0006574 {source="DOID:3923", source="EFO:1000687", source="NCIT:C6504"} ! lipomatosis
property_value: exactMatch DOID:3923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333298
property_value: exactMatch NCIT:C6504

[Term]
id: MONDO:0006540
name: dyshidrosis
def: "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" [MESH:D011146]
synonym: "cheiropompholyx" EXACT [DOID:9230, MTHICD9_2006:705.81]
synonym: "dyshidrosis" EXACT [DOID:9230]
synonym: "DYSHYDROTIC eczema" EXACT [DOID:9230, MTH:261]
synonym: "pompholyx" RELATED [DOID:9230]
synonym: "vesicular eczema of hands and/or feet" EXACT [DOID:9230, MTH:NOCODE]
xref: COHD:133551 {source="MONDO:equivalentTo"}
xref: DOID:9230 {source="MONDO:equivalentTo", source="EFO:1000688"}
xref: EFO:1000688 {source="MONDO:equivalentTo"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:705.81 {source="MONDO:equivalentTo", source="DOID:9230", source="i2s"}
xref: MESH:D011146 {source="MONDO:equivalentTo", source="DOID:9230", source="MONDO:ontobio"}
xref: SCTID:402567004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.53", source="DOID:9230"}
xref: UMLS:C0032633 {source="MONDO:equivalentTo", source="DOID:9230"}
xref: Wikipedia:Dyshidrosis {source="EFO:1000688"}
is_a: MONDO:0006615 {source="DOID:9230", source="EFO:1000688"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/156416008
property_value: closeMatch http://identifiers.org/snomedct/156417004
property_value: closeMatch http://identifiers.org/snomedct/201198005
property_value: closeMatch http://identifiers.org/snomedct/201199002
property_value: closeMatch http://identifiers.org/snomedct/201200004
property_value: closeMatch http://identifiers.org/snomedct/201202007
property_value: closeMatch http://identifiers.org/snomedct/25560004
property_value: closeMatch http://identifiers.org/snomedct/267865000
property_value: closeMatch http://identifiers.org/snomedct/267866004
property_value: closeMatch http://identifiers.org/snomedct/274946003
property_value: exactMatch DOID:9230
property_value: exactMatch http://identifiers.org/mesh/D011146
property_value: exactMatch http://identifiers.org/snomedct/402567004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032633

[Term]
id: MONDO:0006541
name: epidermolysis bullosa
def: "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive . Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa]
subset: gard_rare {source="GARD:0006359"}
synonym: "acantholysis bullosa" EXACT [CSP2005:0726-9169, DOID:2730]
synonym: "EB" RELATED [GARD:0006359]
synonym: "epidermolysis bullosa" EXACT [DOID:2730, MTHICD9_2006:757.39]
xref: COHD:4246290 {source="MONDO:equivalentTo"}
xref: DOID:2730 {source="EFO:1000690", source="MONDO:equivalentTo"}
xref: EFO:1000690 {source="MONDO:equivalentTo"}
xref: GARD:0006359 {source="MONDO:equivalentTo"}
xref: ICD10:Q81 {source="DOID:2730", source="MONDO:equivalentTo"}
xref: ICD10:Q81.9 {source="DOID:2730"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004820 {source="DOID:2730", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C67383 {source="DOID:2730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:61003004 {source="DOID:2730", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Wikipedia:Epidermolysis_bullosa {source="EFO:1000690"}
is_a: MONDO:0006617 {source="DOID:2730", source="EFO:1000690", source="MESH:D004820"} ! vesiculobullous skin disease
property_value: closeMatch http://identifiers.org/snomedct/205580008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014527
property_value: exactMatch DOID:2730
property_value: exactMatch http://identifiers.org/mesh/D004820
property_value: exactMatch http://identifiers.org/snomedct/61003004
property_value: exactMatch NCIT:C67383
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa xsd:anyURI {source="GARD:0006359"}

[Term]
id: MONDO:0006542
name: obsolete epidermolysis bullosa acquisita
def: "A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." [NCIT:P378]
is_obsolete: true
replaced_by: MONDO:0018747

[Term]
id: MONDO:0006543
name: epidermolysis bullosa dystrophica
def: "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." [NCIT:P378]
synonym: "dystrophic epidermolysis bullosa" EXACT EXCLUDE [DOID:4959]
xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"}
xref: EFO:1000692 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.2 {source="DOID:4959"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016108 {source="MONDO:equivalentTo", source="DOID:4959"}
xref: NCIT:C84691 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.11", source="DOID:4959"}
xref: SCTID:254185007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:4959"}
xref: Wikipedia:Epidermolysis_bullosa_dystrophica {source="EFO:1000692"}
is_a: MONDO:0006541 {source="DOID:4959", source="EFO:1000692", source="MESH:D016108", source="NCIT:C84691", source="linkedlifedata"} ! epidermolysis bullosa
property_value: closeMatch http://identifiers.org/snomedct/205587006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079294
property_value: exactMatch DOID:4959
property_value: exactMatch http://identifiers.org/mesh/D016108
property_value: exactMatch http://identifiers.org/snomedct/254185007
property_value: exactMatch NCIT:C84691

[Term]
id: MONDO:0006544
name: erythema infectiosum
def: "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." [NCIT:P378]
synonym: "fifth disease" EXACT [DOID:8743, MTHICD9_2006:057.0]
xref: COHD:134569 {source="MONDO:equivalentTo"}
xref: DOID:8743 {source="EFO:1000693", source="MONDO:equivalentTo"}
xref: EFO:1000693 {source="MONDO:equivalentTo"}
xref: ICD10:B08.3 {source="DOID:8743"}
xref: ICD9:057.0 {source="DOID:8743", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D016731 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84695 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:34730008 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.08"}
xref: UMLS:C0085273 {source="DOID:8743", source="MONDO:equivalentTo", source="NCIT:C84695"}
is_a: MONDO:0006619 {source="DOID:8743", source="EFO:1000693"} ! viral exanthem
is_a: MONDO:0024294 ! skin disease caused by infection
is_a: MONDO:0025371 ! Parvoviridae infectious disease
property_value: closeMatch http://identifiers.org/snomedct/154344005
property_value: closeMatch http://identifiers.org/snomedct/266193008
property_value: exactMatch DOID:8743
property_value: exactMatch http://identifiers.org/mesh/D016731
property_value: exactMatch http://identifiers.org/snomedct/34730008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085273
property_value: exactMatch NCIT:C84695

[Term]
id: MONDO:0006545
name: erythema multiforme
def: "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus , suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome . The most severe of the three is toxic epidermal necrolysis (TEN)." [https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme]
subset: gard_rare {source="GARD:0006372"}
synonym: "Dermatostomatitis, erythema multiforme type" RELATED [GARD:0006372]
synonym: "EM" RELATED [GARD:0006372]
synonym: "erythema multiforme bullosum" RELATED [GARD:0006372]
synonym: "erythema polymorphe, erythema multiforme type" RELATED [GARD:0006372]
synonym: "febrile mucocutaneous syndrome" RELATED [GARD:0006372]
synonym: "Herpes iris, erythema multiforme type" RELATED [GARD:0006372]
xref: COHD:132702 {source="MONDO:equivalentTo"}
xref: DOID:0050185 {source="EFO:1000694", source="MONDO:equivalentTo"}
xref: EFO:1000694 {source="MONDO:equivalentTo"}
xref: GARD:0006372 {source="MONDO:equivalentTo"}
xref: ICD10:L51 {source="MONDO:equivalentTo"}
xref: ICD9:695.1 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:695.10 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004892 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3024 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:36715001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.40"}
xref: UMLS:C0014742 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3024"}
is_a: MONDO:0005093 {source="DOID:0050185", source="EFO:1000694", source="MESH:D004892/inferred", source="NCIT:C3024/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: exactMatch DOID:0050185
property_value: exactMatch http://identifiers.org/mesh/D004892
property_value: exactMatch http://identifiers.org/snomedct/36715001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014742
property_value: exactMatch NCIT:C3024
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme xsd:anyURI {source="GARD:0006372"}

[Term]
id: MONDO:0006546
name: erythematosquamous dermatosis
def: "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." [NCIT:P378]
synonym: "erythematosquamous dermatosis" EXACT [DOID:9097, NCIT:C34591]
synonym: "Other erythematosquamous dermatosis" EXACT [DOID:9097]
xref: COHD:140172 {source="MONDO:equivalentTo"}
xref: DOID:9097 {source="MONDO:equivalentTo", source="EFO:1000695"}
xref: EFO:1000695 {source="MONDO:equivalentTo"}
xref: ICD9:690 {source="MONDO:equivalentTo", source="i2s", source="DOID:9097"}
xref: ICD9:690.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34591 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9097"}
xref: SCTID:54792008 {source="MONDO:equivalentTo", source="DOID:9097", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014747 {source="NCIT:C34591", source="MONDO:equivalentTo", source="DOID:9097"}
is_a: MONDO:0005093 {source="DOID:9097", source="EFO:1000695", source="NCIT:C34591/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/200762004
property_value: closeMatch http://identifiers.org/snomedct/200768000
property_value: exactMatch DOID:9097
property_value: exactMatch http://identifiers.org/snomedct/54792008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014747
property_value: exactMatch NCIT:C34591

[Term]
id: MONDO:0006547
name: exanthem (disease)
def: "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." [NCIT:P378]
synonym: "cutaneous eruption" EXACT [NCIT:C39594]
synonym: "exanthem" EXACT [MONDO:ambiguous]
synonym: "exanthema" EXACT [DOID:0050486]
synonym: "Rash" EXACT [DOID:0050486]
synonym: "skin eruption" EXACT [NCIT:C39594]
synonym: "skin Rash" EXACT [NCIT:C39594]
xref: DOID:0050486 {source="MONDO:equivalentTo", source="EFO:1000697"}
xref: EFO:1000697 {source="MONDO:equivalentTo"}
xref: HP:0000988 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:R21 {source="DOID:0050486"}
xref: ICD9:782.1 {source="DOID:0050486", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005076 {source="DOID:0050486", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C39594 {source="DOID:0050486", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:271807003 {source="DOID:0050486", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.98"}
xref: Wikipedia:Exanthem {source="EFO:1000697"}
is_a: MONDO:0005093 {source="DOID:0050486", source="EFO:1000697", source="MESH:D005076", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: closeMatch http://identifiers.org/snomedct/112625008
property_value: closeMatch http://identifiers.org/snomedct/139684003
property_value: closeMatch http://identifiers.org/snomedct/158230006
property_value: closeMatch http://identifiers.org/snomedct/158231005
property_value: closeMatch http://identifiers.org/snomedct/158234002
property_value: closeMatch http://identifiers.org/snomedct/1806006
property_value: closeMatch http://identifiers.org/snomedct/206860008
property_value: closeMatch http://identifiers.org/snomedct/206861007
property_value: closeMatch http://identifiers.org/snomedct/206864004
property_value: closeMatch http://identifiers.org/snomedct/267183006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015230
property_value: exactMatch DOID:0050486
property_value: exactMatch http://identifiers.org/mesh/D005076
property_value: exactMatch http://identifiers.org/snomedct/271807003
property_value: exactMatch NCIT:C111884
property_value: exactMatch NCIT:C39594

[Term]
id: MONDO:0006548
name: facial dermatosis
def: "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." [EFO:1000698]
xref: DOID:3134 {source="MONDO:equivalentTo", source="EFO:1000698"}
xref: EFO:1000698 {source="MONDO:equivalentTo"}
xref: MESH:D005148 {source="DOID:3134", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0015456 {source="DOID:3134", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:3134", source="EFO:1000698", source="MESH:D005148"} ! skin disease
property_value: exactMatch DOID:3134
property_value: exactMatch http://identifiers.org/mesh/D005148
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015456

[Term]
id: MONDO:0006549
name: fibroepithelial polyp of the anus
def: "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." [NCIT:C4435]
synonym: "anal fibroepithelial polyp" EXACT [NCIT:C4435]
synonym: "anal fibrous polyp" EXACT [NCIT:C4435]
synonym: "anal tag" EXACT [NCIT:C4435]
synonym: "anus skin tag" EXACT [MONDO:patterns/location]
synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C5604]
synonym: "fibrous polyp of anus" EXACT [NCIT:C4435]
synonym: "fibrous polyp of the anus" EXACT [NCIT:C4435]
synonym: "skin tag of anus" RELATED []
xref: DOID:8170 {source="MONDO:equivalentTo", source="EFO:1000699"}
xref: EFO:1000699 {source="MONDO:equivalentTo"}
xref: NCIT:C4435 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:195469007 {source="MONDO:equivalentTo"}
is_a: MONDO:0060765 {source="NCIT:C4435"} ! fibroepithelial polyp
is_a: MONDO:0060766 ! anal polyp
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8170", source="linkedlifedata"} ! skin tag
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345903
property_value: exactMatch DOID:8170
property_value: exactMatch http://identifiers.org/snomedct/195469007
property_value: exactMatch NCIT:C4435
property_value: exactMatch NCIT:C5604

[Term]
id: MONDO:0006550
name: fibroepithelial polyp of urethra
def: "A benign polypoid lesion of mesodermal origin that arises from the urethra." [NCIT:P378]
synonym: "fibroepithelial polyp of the urethra" EXACT [NCIT:C6170]
synonym: "fibroepithelial polyp of urethra" EXACT [MONDO:design_pattern]
synonym: "skin tag of urethra" RELATED []
synonym: "urethra fibroepithelial polyp" EXACT [NCIT:C6170]
synonym: "urethra skin tag" EXACT [MONDO:patterns/location]
synonym: "urethral fibroepithelial polyp" EXACT [DOID:8108, NCIT:C6170]
xref: DOID:8108 {source="MONDO:equivalentTo", source="EFO:1000700"}
xref: EFO:1000700 {source="MONDO:equivalentTo"}
xref: NCIT:C6170 {source="DOID:8108", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336884 {source="DOID:8108", source="MONDO:equivalentTo", source="NCIT:C6170"}
is_a: MONDO:0004184 {source="DOID:8108", source="MONDO:Redundant", source="NCIT:C6170/inferred"} ! urethral disease
is_a: MONDO:0060765 {source="NCIT:C6170"} ! fibroepithelial polyp
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8108"} ! skin tag
property_value: exactMatch DOID:8108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336884
property_value: exactMatch NCIT:C6170

[Term]
id: MONDO:0006551
name: alopecia mucinosa
def: "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." [NCIT:C82859]
synonym: "alopecia Mucinosa" EXACT [NCIT:C82859]
synonym: "alopecia mucinosa" EXACT [DOID:9905]
synonym: "alopecia mucinosis" EXACT [NCIT:C82859]
synonym: "cutaneous focal mucinosis of hair follicle" EXACT [MONDO:design_pattern]
synonym: "follicular mucinosis" EXACT [DOID:9905]
synonym: "hair follicle cutaneous focal mucinosis" EXACT [MONDO:patterns/location]
xref: DOID:9905 {source="MONDO:equivalentTo", source="EFO:1000701"}
xref: EFO:1000701 {source="MONDO:equivalentTo"}
xref: ICD10:L65.2 {source="MONDO:equivalentTo", source="DOID:9905"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000507 {source="MONDO:equivalentTo", source="DOID:9905", source="MONDO:ontobio"}
xref: NCIT:C82859 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:9905"}
xref: PMID:24350019 {source="EFO:1000701"}
xref: SCTID:27382006 {source="MONDO:equivalentTo", source="DOID:9905", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0002173 {source="MONDO:equivalentTo", source="DOID:9905", source="NCIT:C82859"}
is_a: MONDO:0004907 {source="MESH:D000507", source="linkedlifedata"} ! alopecia
is_a: MONDO:0019286 ! sebaceous gland anomaly
is_a: MONDO:0021653 ! cutaneous focal mucinosis
property_value: closeMatch http://identifiers.org/snomedct/201150001
property_value: exactMatch DOID:9905
property_value: exactMatch http://identifiers.org/mesh/D000507
property_value: exactMatch http://identifiers.org/snomedct/27382006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002173
property_value: exactMatch NCIT:C82859

[Term]
id: MONDO:0006552
name: folliculitis
def: "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." [NCIT:P378]
synonym: "dermatitis of hair follicle" EXACT [MONDO:design_pattern]
synonym: "hair follicle dermatitis" EXACT [MONDO:patterns/location]
xref: DOID:4409 {source="MONDO:equivalentTo", source="EFO:1000702"}
xref: EFO:1000702 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005499 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4409"}
xref: NCIT:C94408 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4409"}
xref: SCTID:13600006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4409"}
xref: Wikipedia:Folliculitis {source="EFO:1000702"}
is_a: MONDO:0002406 ! dermatitis
is_a: MONDO:0002917 {source="DOID:4409", source="MESH:D005499", source="MONDO:Redundant", source="NCIT:C94408/inferred"} ! disease of pilosebaceous unit
property_value: closeMatch http://identifiers.org/snomedct/156411003
property_value: closeMatch http://identifiers.org/snomedct/201177005
property_value: closeMatch http://identifiers.org/snomedct/201183008
property_value: closeMatch http://identifiers.org/snomedct/267863007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016436
property_value: exactMatch DOID:4409
property_value: exactMatch http://identifiers.org/mesh/D005499
property_value: exactMatch http://identifiers.org/snomedct/13600006
property_value: exactMatch NCIT:C94408

[Term]
id: MONDO:0006553
name: Fox-Fordyce disease
def: "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids , antibiotics, and immunosuppressants." [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease]
subset: gard_rare {source="GARD:0006462"}
synonym: "apocrine miliaria" RELATED [GARD:0006462]
synonym: "Fox Fordyce disease" EXACT [DOID:1381]
synonym: "Fox-Fordyce disease" EXACT [DOID:1381]
synonym: "Fox-Fordyce syndrome" RELATED [GARD:0006462]
synonym: "miliaria, apocrine" RELATED [GARD:0006462]
xref: DOID:1381 {source="MONDO:equivalentTo", source="EFO:1000703"}
xref: EFO:1000703 {source="MONDO:equivalentTo"}
xref: GARD:0006462 {source="MONDO:equivalentTo"}
xref: ICD10:L75.2 {source="MONDO:equivalentTo", source="DOID:1381"}
xref: ICD9:705.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:1381"}
xref: MESH:D005588 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1381"}
xref: NCIT:C84716 {source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo", source="DOID:1381"}
xref: SCTID:65038009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:1381"}
xref: UMLS:C0016632 {source="MONDO:equivalentTo", source="NCIT:C84716", source="DOID:1381"}
xref: Wikipedia:Fox-Fordyce_disease {source="EFO:1000703"}
is_a: MONDO:0006615 {source="DOID:1381", source="EFO:1000703", source="MESH:D005588/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/254682006
property_value: exactMatch DOID:1381
property_value: exactMatch http://identifiers.org/mesh/D005588
property_value: exactMatch http://identifiers.org/snomedct/65038009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016632
property_value: exactMatch NCIT:C84716
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease xsd:anyURI {source="GARD:0006462"}

[Term]
id: MONDO:0006554
name: granuloma annulare
def: "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." [https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare]
subset: gard_rare {source="GARD:0006546"}
synonym: "granuloma annulare" EXACT [DOID:3777]
synonym: "Granulome annulare" EXACT [DOID:3777]
xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"}
xref: EFO:1000704 {source="MONDO:equivalentTo"}
xref: GARD:0006546 {source="MONDO:equivalentTo"}
xref: ICD10:L92.0 {source="DOID:3777", source="MONDO:equivalentTo"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016460 {source="DOID:3777", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3470 {source="DOID:3777", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:65508009 {source="DOID:3777", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085074 {source="NCIT:C3470", source="DOID:3777", source="MONDO:equivalentTo"}
xref: Wikipedia:Granuloma_annulare {source="EFO:1000704"}
is_a: MONDO:0002406 {source="DOID:3777"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156368000
property_value: closeMatch http://identifiers.org/snomedct/200953005
property_value: closeMatch http://identifiers.org/snomedct/267850001
property_value: exactMatch DOID:3777
property_value: exactMatch http://identifiers.org/mesh/D016460
property_value: exactMatch http://identifiers.org/snomedct/65508009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085074
property_value: exactMatch NCIT:C3470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare xsd:anyURI {source="GARD:0006546"}

[Term]
id: MONDO:0006555
name: granulomatous dermatitis
def: "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." [NCIT:P378]
xref: DOID:4397 {source="EFO:1000705", source="MONDO:equivalentTo"}
xref: EFO:1000705 {source="MONDO:equivalentTo"}
xref: NCIT:C3505 {source="DOID:4397", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C0743086 {source="DOID:4397", source="MONDO:equivalentTo", source="NCIT:C3505"}
is_a: MONDO:0002406 {source="DOID:4397", source="NCIT:C3505"} ! dermatitis
property_value: exactMatch DOID:4397
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0743086
property_value: exactMatch NCIT:C3505

[Term]
id: MONDO:0006556
name: hand dermatosis
def: "skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." [EFO:1000706]
comment: Editor note: TODO check definition
xref: DOID:3158 {source="EFO:1000706", source="MONDO:equivalentTo"}
xref: EFO:1000706 {source="MONDO:equivalentTo"}
xref: MESH:D006229 {source="DOID:3158", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0018567 {source="DOID:3158", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:3158", source="EFO:1000706", source="MESH:D006229"} ! skin disease
is_a: MONDO:0044990 ! hand disease
property_value: exactMatch DOID:3158
property_value: exactMatch http://identifiers.org/mesh/D006229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018567

[Term]
id: MONDO:0006557
name: hemangioma of subcutaneous tissue
def: "A hemangioma arising from the subcutaneous soft tissues." [NCIT:P378]
synonym: "angioma of subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "angioma of the subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540]
synonym: "hemangioma of subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "hemangioma of superficial fascia" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "subcutaneous angioma" EXACT [NCIT:C8540]
synonym: "subcutaneous haemangioma" EXACT [DOID:13081]
synonym: "subcutaneous hemangioma" EXACT [NCIT:C8540]
synonym: "subcutaneous tissue angioma" EXACT [NCIT:C8540]
synonym: "subcutaneous tissue hemangioma" EXACT [NCIT:C8540]
synonym: "superficial fascia hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:13081 {source="EFO:1000707", source="MONDO:equivalentTo"}
xref: EFO:1000707 {source="MONDO:equivalentTo"}
xref: NCIT:C8540 {source="DOID:13081", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:93473009 {source="DOID:13081", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0685200 {source="NCIT:C8540", source="DOID:13081", source="MONDO:equivalentTo"}
is_a: MONDO:0000652 {source="DOID:13081", source="MONDO:Redundant", source="indirect"} ! integumentary system benign neoplasm
is_a: MONDO:0006500 {source="DOID:13081", source="EFO:1000707", source="MONDO:Redundant", source="NCIT:C8540", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma
is_a: MONDO:0019296 ! subcutaneous tissue disease
property_value: closeMatch http://identifiers.org/snomedct/189195009
property_value: closeMatch http://identifiers.org/snomedct/254823000
property_value: exactMatch DOID:13081
property_value: exactMatch http://identifiers.org/snomedct/93473009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685200
property_value: exactMatch NCIT:C8540

[Term]
id: MONDO:0006558
name: pemphigoid gestationis
def: "a rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." [https://www.dermnetnz.org/topics/pemphigoid-gestationis/]
subset: gard_rare {source="GARD:0006497"}
subset: ordo_disease {source="Orphanet:63275"}
synonym: "gestational herpes" EXACT DEPRECATED [DOID:14482]
synonym: "gestational pemphigoid" EXACT [Orphanet:63275]
synonym: "Herpes gestationis" EXACT DEPRECATED [DOID:14482, MTHICD9_2006:646.8]
synonym: "Herpes gestationis (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "Herpes gestationis NOS (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "Herpes gestationis unspecified (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "pemphigoid gestationis" EXACT [MONDO:0018970]
synonym: "pemphigus gestationis" RELATED [DOID:0040098]
xref: DOID:0040098 {source="MONDO:equivalentTo"}
xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo"}
xref: EFO:1000709 {source="MONDO:equivalentTo"}
xref: GARD:0006497 {source="MONDO:equivalentTo"}
xref: ICD10:L12.8 {source="ORDO:63275/ntbt", source="Orphanet:63275"}
xref: ICD10:O26.4 {source="DOID:14482"}
xref: ICD10:O26.40 {source="DOID:14482"}
xref: ICD10CM:O26.4 {source="DOID:0040098"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10019939 {source="ORDO:63275/e", source="Orphanet:63275"}
xref: MESH:D006559 {source="MONDO:equivalentTo", source="DOID:14482", source="MONDO:ontobio", source="ORDO:63275/e", source="Orphanet:63275", source="DOID:0040098"}
xref: NCIT:C85003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14482"}
xref: Orphanet:63275 {source="MONDO:equivalentTo"}
xref: SCTID:86081009 {source="MONDO:equivalentTo", source="DOID:14482", source="DOID:0040098", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0019343 {source="MONDO:equivalentTo", source="DOID:14482", source="NCIT:C85003", source="ORDO:63275/e", source="Orphanet:63275"}
xref: Wikipedia:Gestational_pemphigoid {source="EFO:1000709"}
is_a: MONDO:0006594 {source="MONDO:cjm"} ! pemphigus
is_a: MONDO:0024575 {source="MESH:D006559", source="MONDO:cjm"} ! pregnancy disorder
property_value: closeMatch http://identifiers.org/snomedct/156129002
property_value: closeMatch http://identifiers.org/snomedct/199126002
property_value: closeMatch http://identifiers.org/snomedct/199131000
property_value: closeMatch http://identifiers.org/snomedct/270959002
property_value: exactMatch DOID:0040098
property_value: exactMatch DOID:14482
property_value: exactMatch http://identifiers.org/meddra/10019939
property_value: exactMatch http://identifiers.org/mesh/D006559
property_value: exactMatch http://identifiers.org/snomedct/86081009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019343
property_value: exactMatch NCIT:C85003
property_value: exactMatch Orphanet:63275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis xsd:anyURI {source="GARD:0006497"}

[Term]
id: MONDO:0006559
name: hidradenitis suppurativa
def: "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." [MESH:D017497]
synonym: "acne inversa" EXACT [MONDO:cjm]
synonym: "acne inversa, familial" NARROW [DOID:2280]
synonym: "hidradenitis suppurativa" EXACT [DOID:2280, MTHICD9_2006:705.83]
xref: COHD:4241223 {source="MONDO:equivalentTo"}
xref: DOID:2280 {source="MONDO:equivalentTo", source="EFO:1000710"}
xref: EFO:1000710 {source="MONDO:equivalentTo"}
xref: GARD:0006658 {source="MONDO:equivalentTo"}
xref: ICD10:L73.2 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: MESH:D017497 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: SCTID:59393003 {source="MONDO:equivalentTo", source="DOID:2280", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0162836 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: Wikipedia:Hidradenitis_suppurativa {source="EFO:1000710"}
is_a: MONDO:0002260 {source="DOID:2280", source="MESH:D017497", source="linkedlifedata"} ! hidradenitis
property_value: closeMatch http://identifiers.org/snomedct/156417004
property_value: closeMatch http://identifiers.org/snomedct/201204008
property_value: closeMatch http://identifiers.org/snomedct/267866004
property_value: exactMatch DOID:2280
property_value: exactMatch http://identifiers.org/mesh/D017497
property_value: exactMatch http://identifiers.org/snomedct/59393003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162836

[Term]
id: MONDO:0006560
name: hypohidrosis
def: "Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." [NCIT:P378]
comment: Editor note: consider obsoleting
synonym: "Oligohidrosis" EXACT [DOID:11155, MTHICD9_2006:705.0]
xref: DOID:11155 {source="MONDO:equivalentTo", source="EFO:1000712"}
xref: EFO:1000712 {source="MONDO:equivalentTo"}
xref: HP:0000966
xref: ICD10:L74.4 {source="DOID:11155", source="MONDO:directSiblingOf"}
xref: MESH:D007007 {source="MONDO:equivalentTo", source="DOID:11155"}
xref: SCTID:45004005 {source="MONDO:equivalentTo", source="DOID:11155", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020620 {source="MONDO:equivalentTo", source="DOID:11155"}
xref: Wikipedia:Hypodidrosis {source="EFO:1000712"}
is_a: MONDO:0006615 {source="DOID:11155", source="EFO:1000712", source="MESH:D007007", source="linkedlifedata"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/201189007
property_value: exactMatch DOID:11155
property_value: exactMatch http://identifiers.org/mesh/D007007
property_value: exactMatch http://identifiers.org/snomedct/45004005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020620
property_value: exactMatch NCIT:C34718

[Term]
id: MONDO:0006561
name: eyelid hypopigmentation
def: "under-production of pigment in the eyelid" [EFO:1000713]
synonym: "hypopigmentation of eyelid" EXACT []
xref: DOID:11668 {source="MONDO:equivalentTo", source="EFO:1000713"}
xref: EFO:1000713 {source="MONDO:equivalentTo"}
xref: ICD10:H02.73 {source="DOID:11668"}
xref: ICD9:374.53 {source="DOID:11668", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:68210006 {source="DOID:11668", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155212 {source="DOID:11668", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="DOID:11668/inferred", source="linkedlifedata"} ! eyelid disease
is_a: MONDO:0006600 {source="DOID:11668", source="EFO:1000713", source="linkedlifedata"} ! pigmentation disease
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11668"} ! eyelid degenerative disease
property_value: closeMatch http://identifiers.org/snomedct/193958004
property_value: exactMatch DOID:11668
property_value: exactMatch http://identifiers.org/snomedct/68210006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155212

[Term]
id: MONDO:0006562
name: obsolete incontinentia pigmenti achromians
synonym: "incontinentia pigmenti achromians syndrome" EXACT []
synonym: "incontinentia pigmenti syndrome" RELATED []
xref: EFO:1000716 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:218358001 {source="DOID:3156", source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://identifiers.org/snomedct/254202001
property_value: closeMatch http://identifiers.org/snomedct/254816001
property_value: closeMatch http://identifiers.org/snomedct/48543002
property_value: closeMatch http://identifiers.org/snomedct/806001
property_value: exactMatch http://identifiers.org/snomedct/218358001
is_obsolete: true
replaced_by: MONDO:0010302

[Term]
id: MONDO:0006563
name: inverted follicular keratosis
def: "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." [NCIT:P378]
synonym: "inverted folicular keratosis" EXACT [DOID:6945]
synonym: "inverted follicular keratosis" EXACT [DOID:6945, NCIT:C9007]
xref: DOID:6945 {source="EFO:1000717", source="MONDO:equivalentTo"}
xref: EFO:1000717 {source="MONDO:equivalentTo"}
xref: ICD9:264.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C9007 {source="DOID:6945", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:394728005 {source="DOID:6945", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334019 {source="DOID:6945", source="MONDO:equivalentTo", source="NCIT:C9007"}
xref: Wikipedia:Inverted_follicular_keratosis {source="EFO:1000717"}
is_a: MONDO:0008420 {source="DOID:6945", source="EFO:1000717", source="NCIT:C9007"} ! seborrheic keratosis
property_value: closeMatch http://identifiers.org/snomedct/15112009
property_value: closeMatch http://identifiers.org/snomedct/201096007
property_value: exactMatch DOID:6945
property_value: exactMatch http://identifiers.org/snomedct/394728005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334019
property_value: exactMatch NCIT:C9007

[Term]
id: MONDO:0006564
name: irritant dermatitis
def: "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." [NCIT:P378]
synonym: "irritant contact dermatitis" EXACT [DOID:2772, NCIT:C27151]
synonym: "primary irritant dermatitis" EXACT [DOID:2772]
xref: COHD:4004352 {source="MONDO:equivalentTo"}
xref: DOID:2772 {source="EFO:1000718", source="MONDO:equivalentTo"}
xref: EFO:1000718 {source="MONDO:equivalentTo"}
xref: ICD10:L24 {source="DOID:2772"}
xref: ICD10:L24.9 {source="DOID:2772"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017453 {source="DOID:2772", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27151 {source="DOID:2772", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:110979008 {source="DOID:2772", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162823 {source="DOID:2772", source="MONDO:equivalentTo", source="NCIT:C27151"}
is_a: MONDO:0005480 {source="DOID:2772", source="EFO:1000718", source="MESH:D017453", source="MONDOLEX:0006564", source="NCIT:C27151", source="linkedlifedata"} ! contact dermatitis
property_value: closeMatch http://identifiers.org/snomedct/200850007
property_value: exactMatch DOID:2772
property_value: exactMatch http://identifiers.org/mesh/D017453
property_value: exactMatch http://identifiers.org/snomedct/110979008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162823
property_value: exactMatch NCIT:C27151

[Term]
id: MONDO:0006565
name: juvenile dermatitis herpetiformis
def: "dermatitis herpetiformis in children" [EFO:1000719]
xref: DOID:8507 {source="EFO:1000719", source="MONDO:equivalentTo"}
xref: EFO:1000719 {source="MONDO:equivalentTo"}
xref: ICD10:L12.2 {source="DOID:8507"}
xref: ICD9:694.2 {source="DOID:8507", source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:5906000 {source="DOID:8507", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152092 {source="DOID:8507", source="MONDO:equivalentTo"}
is_a: MONDO:0015614 {source="DOID:8507", source="EFO:1000719", source="linkedlifedata"} ! dermatitis herpetiformis
property_value: closeMatch http://identifiers.org/snomedct/200900001
property_value: closeMatch http://identifiers.org/snomedct/267799009
property_value: exactMatch DOID:8507
property_value: exactMatch http://identifiers.org/snomedct/5906000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152092

[Term]
id: MONDO:0006566
name: keratosis
def: "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." [NCIT:C34745]
synonym: "keratoderma" EXACT [NCIT:C34745]
xref: DOID:161 {source="MONDO:equivalentTo", source="EFO:1000720"}
xref: EFO:1000720 {source="MONDO:equivalentTo"}
xref: MESH:D007642 {source="DOID:161", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34745 {source="MONDO:equivalentTo"}
xref: SCTID:254666005 {source="MONDO:kboom-pr-1.00/0.84/13.53", source="DOID:161", source="MONDO:equivalentTo"}
xref: UMLS:C0022593 {source="DOID:161", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:161", source="EFO:1000720", source="MESH:D007642", source="NCIT:C34745/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
is_a: MONDO:0045011 ! keratinization disease
property_value: exactMatch DOID:161
property_value: exactMatch http://identifiers.org/mesh/D007642
property_value: exactMatch http://identifiers.org/snomedct/254666005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022593
property_value: exactMatch NCIT:C34745
property_value: exactMatch NCIT:C34747

[Term]
id: MONDO:0006567
name: kernicterus due to isoimmunization
def: "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." [NCIT:P378]
synonym: "kernicterus - due to isoimm." EXACT [DOID:12043]
synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [DOID:12043, ICD9CM_2006:773.4]
synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270]
xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"}
xref: EFO:1000721 {source="MONDO:equivalentTo"}
xref: ICD10:P57.0 {source="MONDO:equivalentTo", source="DOID:12043"}
xref: ICD9:773.4 {source="MONDO:equivalentTo", source="DOID:12043", source="i2s"}
xref: NCIT:C101270 {source="MONDO:equivalentTo", source="DOID:12043", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:359007 {source="MONDO:equivalentTo", source="DOID:12043", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0270204 {source="NCIT:C101270", source="MONDO:equivalentTo", source="DOID:12043"}
is_a: MONDO:0001240 {source="DOID:12043", source="linkedlifedata"} ! neonatal anemia
is_a: MONDO:0006584 {source="DOID:12043", source="EFO:1000721", source="linkedlifedata"} ! neonatal jaundice
is_a: MONDO:0006819 {source="MONDOLEX:0006567", source="NCIT:C101270"} ! kernicterus
property_value: closeMatch http://identifiers.org/snomedct/157135006
property_value: closeMatch http://identifiers.org/snomedct/206433007
property_value: closeMatch http://identifiers.org/snomedct/268880009
property_value: exactMatch DOID:12043
property_value: exactMatch http://identifiers.org/snomedct/359007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270204
property_value: exactMatch NCIT:C101270

[Term]
id: MONDO:0006568
name: obsolete Kimura disease
is_obsolete: true
replaced_by: MONDO:0018830

[Term]
id: MONDO:0006569
name: leg dermatosis
def: "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" [MESH:D007868]
xref: DOID:3142 {source="MONDO:equivalentTo", source="EFO:1000723"}
xref: EFO:1000723 {source="MONDO:equivalentTo"}
xref: MESH:D007868 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3142"}
xref: UMLS:C0023219 {source="MONDO:equivalentTo", source="DOID:3142"}
is_a: MONDO:0005093 {source="DOID:3142", source="EFO:1000723", source="MESH:D007868"} ! skin disease
property_value: exactMatch DOID:3142
property_value: exactMatch http://identifiers.org/mesh/D007868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023219

[Term]
id: MONDO:0006570
name: lichen disease
def: "a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." [EFO:1000724]
synonym: "lichen" EXACT []
synonym: "lichen condition" RELATED []
xref: DOID:8574 {source="MONDO:equivalentTo", source="EFO:1000724"}
xref: EFO:1000724 {source="MONDO:equivalentTo"}
xref: ICD10:L28.0 {source="DOID:8574"}
xref: ICD9:697 {source="DOID:8574"}
xref: ICD9:697.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:697.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:8574"}
xref: SCTID:88996004 {source="MONDO:equivalentTo", source="DOID:8574"}
xref: UMLS:C0023643 {source="MONDO:equivalentTo", source="DOID:8574"}
is_a: MONDO:0005093 {source="DOID:8574", source="EFO:1000724", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156376003
property_value: closeMatch http://identifiers.org/snomedct/156379005
property_value: closeMatch http://identifiers.org/snomedct/200998004
property_value: closeMatch http://identifiers.org/snomedct/201010002
property_value: exactMatch DOID:8574
property_value: exactMatch http://identifiers.org/snomedct/88996004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023643

[Term]
id: MONDO:0006571
name: lichen nitidus
def: "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." [MESH:D017513]
synonym: "Pinkus' disease" EXACT [DOID:8573, MTHICD9_2006:697.1]
xref: COHD:132704 {source="MONDO:equivalentTo"}
xref: DOID:8573 {source="MONDO:equivalentTo", source="EFO:1000725"}
xref: EFO:1000725 {source="MONDO:equivalentTo"}
xref: ICD10:L44.1 {source="MONDO:equivalentTo", source="DOID:8573"}
xref: ICD9:697.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8573"}
xref: MESH:D017513 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8573"}
xref: SCTID:41890004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:8573"}
xref: UMLS:C0162849 {source="MONDO:equivalentTo", source="DOID:8573"}
xref: Wikipedia:Lichen_nitidus {source="EFO:1000725"}
is_a: MONDO:0006570 {source="DOID:8573", source="EFO:1000725", source="linkedlifedata"} ! lichen disease
property_value: exactMatch DOID:8573
property_value: exactMatch http://identifiers.org/mesh/D017513
property_value: exactMatch http://identifiers.org/snomedct/41890004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162849

[Term]
id: MONDO:0006572
name: lichen planus
def: "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." [NCIT:P378]
synonym: "lichen ruber planus" EXACT [CSP2005:2716-6962, DOID:9201]
synonym: "lichen, ruber planus" EXACT [DOID:9201, MTHICD9_2006:697.0]
synonym: "ruber planus" RELATED []
xref: COHD:132703 {source="MONDO:equivalentTo"}
xref: DOID:9201 {source="MONDO:equivalentTo", source="EFO:1000726"}
xref: EFO:1000726 {source="MONDO:equivalentTo"}
xref: ICD10:L43 {source="MONDO:equivalentTo", source="DOID:9201"}
xref: ICD10:L43.9 {source="DOID:9201"}
xref: ICD9:697.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9201"}
xref: MESH:D008010 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9201"}
xref: NCIT:C3189 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9201"}
xref: SCTID:4776004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9201"}
xref: UMLS:C0023646 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3189", source="DOID:9201"}
is_a: MONDO:0002406 {source="NCIT:C3189"} ! dermatitis
is_a: MONDO:0006570 {source="DOID:9201", source="EFO:1000726", source="linkedlifedata"} ! lichen disease
property_value: closeMatch http://identifiers.org/snomedct/156377007
property_value: closeMatch http://identifiers.org/snomedct/201004002
property_value: exactMatch DOID:9201
property_value: exactMatch http://identifiers.org/mesh/D008010
property_value: exactMatch http://identifiers.org/snomedct/4776004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023646
property_value: exactMatch NCIT:C3189

[Term]
id: MONDO:0006573
name: lipodystrophy (disease)
def: "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." [NCIT:P378]
synonym: "lipodsystrophic syndrome" EXACT [NCIT:C97093]
synonym: "lipodsystrophic syndromes" EXACT [NCIT:C97093]
synonym: "lipodystrophy" EXACT [MONDO:ambiguous]
xref: COHD:134324 {source="MONDO:equivalentTo"}
xref: DOID:811 {source="EFO:1000727", source="MONDO:equivalentTo"}
xref: EFO:1000727 {source="MONDO:equivalentTo"}
xref: HP:0009125 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E88.1 {source="DOID:811"}
xref: ICD9:272.6 {source="DOID:811", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008060 {source="DOID:811", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97093 {source="DOID:811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:71325002 {source="DOID:811", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0023787 {source="DOID:811", source="NCIT:C97093", source="MONDO:equivalentTo"}
xref: Wikipedia:Lipodystrophy {source="EFO:1000727"}
is_a: MONDO:0005066 {source="MESH:D008060/inferred", source="NCIT:C97093"} ! metabolic disease
is_a: MONDO:0005093 {source="DOID:811", source="EFO:1000727", source="MESH:D008060/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/190789006
property_value: closeMatch http://identifiers.org/snomedct/190790002
property_value: exactMatch DOID:811
property_value: exactMatch http://identifiers.org/mesh/D008060
property_value: exactMatch http://identifiers.org/snomedct/71325002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023787
property_value: exactMatch NCIT:C97093

[Term]
id: MONDO:0006574
name: lipomatosis
def: "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." [NCIT:C3193]
synonym: "Launois-Bensaude syndrome" EXACT [NCIT:C3193]
synonym: "lipomatosis" EXACT [NCIT:C3193]
synonym: "Madelung disease" EXACT [NCIT:C3193]
synonym: "Madelung's disease" EXACT [NCIT:C3193]
xref: DOID:3153 {source="EFO:1000728", source="MONDO:equivalentTo"}
xref: EFO:1000728 {source="MONDO:equivalentTo"}
xref: ICD10:E88.2 {source="DOID:3153"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008068 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3153"}
xref: NCIT:C3193 {source="MONDO:kboom-pr-0.86/0.70/0.21", source="MONDO:equivalentTo"}
xref: SCTID:402693001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3153"}
xref: UMLS:C0023801 {source="NCIT:C3193", source="MONDO:equivalentTo", source="DOID:3153"}
xref: Wikipedia:Lipomatosis {source="EFO:1000728"}
is_a: MONDO:0044983 {source="NCIT:C3193"} ! benign lipomatous neoplasm
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:3153", source="EFO:1000728", source="MESH:D008068"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/37095002
property_value: exactMatch DOID:3153
property_value: exactMatch http://identifiers.org/mesh/D008068
property_value: exactMatch http://identifiers.org/snomedct/402693001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023801
property_value: exactMatch NCIT:C3193

[Term]
id: MONDO:0006575
name: obsolete loiasis
is_obsolete: true
replaced_by: MONDO:0016566

[Term]
id: MONDO:0006576
name: Ludwig's angina
def: "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" [MESH:D008158]
synonym: "cellulitis (disease) of mouth floor" EXACT []
synonym: "cellulitis of floor of mouth" EXACT [DOID:4558, MTHICD9_2006:528.3]
synonym: "Ludwig angina" EXACT [DOID:4558]
synonym: "mouth floor cellulitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4558 {source="MONDO:equivalentTo", source="EFO:1000730"}
xref: EFO:1000730 {source="MONDO:equivalentTo"}
xref: ICD9:528.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008158 {source="DOID:4558", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:196542004 {source="DOID:4558", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0024081 {source="DOID:4558", source="MONDO:equivalentTo"}
xref: UMLS:C3247204 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: Wikipedia:Ludwig's_angina {source="EFO:1000730"}
is_a: MONDO:0005230 {source="DOID:4558", source="EFO:1000730", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cellulitis (disease)
is_a: MONDO:0006858 {source="MESH:D008158", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://identifiers.org/snomedct/54572003
property_value: exactMatch DOID:4558
property_value: exactMatch http://identifiers.org/mesh/D008158
property_value: exactMatch http://identifiers.org/snomedct/196542004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3247204

[Term]
id: MONDO:0006577
name: maxillary sinus cholesteatoma
def: "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." [NCIT:P378]
synonym: "cholesteatoma (disease) of maxillary sinus" EXACT []
synonym: "maxillary sinus cholesteatoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:867 {source="MONDO:equivalentTo", source="EFO:1000731"}
xref: EFO:1000731 {source="MONDO:equivalentTo"}
xref: NCIT:C35868 {source="DOID:867", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: UMLS:C1334644 {source="DOID:867", source="MONDO:equivalentTo", source="NCIT:C35868"}
is_a: MONDO:0001735 {source="DOID:867", source="MONDO:Redundant", source="NCIT:C35868/inferred"} ! paranasal sinus disease
is_a: MONDO:0006530 {source="DOID:867", source="EFO:1000731", source="MONDO:Redundant", source="NCIT:C35868"} ! cholesteatoma (disease)
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch DOID:867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334644
property_value: exactMatch NCIT:C35868

[Term]
id: MONDO:0006578
name: mediastinal lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." [NCIT:C27488]
synonym: "mediastinal lipomatosis" EXACT [NCIT:C27488]
xref: DOID:3926 {source="MONDO:equivalentTo", source="EFO:1000732"}
xref: EFO:1000732 {source="MONDO:equivalentTo"}
xref: NCIT:C27488 {source="MONDO:equivalentTo", source="DOID:3926", source="exact-label-match"}
xref: UMLS:C1334662 {source="NCIT:C27488", source="MONDO:equivalentTo", source="DOID:3926"}
is_a: MONDO:0006574 {source="DOID:3926", source="EFO:1000732", source="NCIT:C27488"} ! lipomatosis
property_value: exactMatch DOID:3926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334662
property_value: exactMatch NCIT:C27488

[Term]
id: MONDO:0006579
name: melanoacanthoma
def: "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." [NCIT:P378]
xref: DOID:11684 {source="MONDO:equivalentTo", source="EFO:1000733"}
xref: EFO:1000733 {source="MONDO:equivalentTo"}
xref: NCIT:C27548 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11684"}
xref: SCTID:394727000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.24", source="DOID:11684"}
xref: UMLS:C1321683 {source="MONDO:equivalentTo", source="NCIT:C27548", source="DOID:11684"}
xref: Wikipedia:Melanocanthoma {source="EFO:1000733"}
is_a: MONDO:0008420 {source="DOID:11684", source="EFO:1000733", source="NCIT:C27548"} ! seborrheic keratosis
property_value: closeMatch http://identifiers.org/snomedct/201096007
property_value: exactMatch DOID:11684
property_value: exactMatch http://identifiers.org/snomedct/394727000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321683
property_value: exactMatch NCIT:C27548

[Term]
id: MONDO:0006580
name: miliaria
def: "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." [NCIT:P378]
synonym: "heat Rash" EXACT [NCIT:C34820]
synonym: "prickly heat" EXACT [NCIT:C34820]
xref: DOID:1382 {source="MONDO:equivalentTo", source="EFO:1000734"}
xref: EFO:1000734 {source="MONDO:equivalentTo"}
xref: ICD10:L74.3 {source="DOID:1382"}
xref: MESH:D008883 {source="MONDO:equivalentTo", source="DOID:1382"}
xref: NCIT:C34820 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1382"}
xref: SCTID:63951004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1382"}
xref: UMLS:C0026113 {source="MONDO:equivalentTo", source="NCIT:C34820", source="DOID:1382"}
xref: Wikipedia:Miliaria {source="EFO:1000734"}
is_a: MONDO:0002254 {source="NCIT:C34820"} ! syndromic disease
is_a: MONDO:0006615 {source="DOID:1382", source="EFO:1000734", source="MESH:D008883", source="linkedlifedata"} ! sweat gland disease
property_value: closeMatch http://identifiers.org/snomedct/201196009
property_value: closeMatch http://identifiers.org/snomedct/201411009
property_value: exactMatch DOID:1382
property_value: exactMatch http://identifiers.org/mesh/D008883
property_value: exactMatch http://identifiers.org/snomedct/63951004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026113
property_value: exactMatch NCIT:C34820

[Term]
id: MONDO:0006581
name: miliaria rubra
def: "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." [EFO:1000735]
synonym: "miliaria crystallina" EXACT [DOID:11153]
synonym: "prickly heat - miliaria" EXACT [DOID:11153]
synonym: "sudamina" EXACT [DOID:11153, MTHICD9_2006:705.1]
xref: DOID:11153 {source="MONDO:equivalentTo", source="EFO:1000735"}
xref: EFO:1000735 {source="MONDO:equivalentTo"}
xref: ICD10:L74.0 {source="DOID:11153"}
xref: ICD10:L74.2 {source="DOID:11153"}
xref: ICD9:705.1 {source="DOID:11153"}
xref: SCTID:44279002 {source="MONDO:equivalentTo", source="DOID:11153", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0162423 {source="MONDO:equivalentTo", source="DOID:11153"}
xref: UMLS:C3241961 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006580 {source="DOID:11153", source="EFO:1000735", source="linkedlifedata"} ! miliaria
property_value: closeMatch http://identifiers.org/snomedct/156415007
property_value: closeMatch http://identifiers.org/snomedct/201190003
property_value: closeMatch http://identifiers.org/snomedct/201194007
property_value: closeMatch http://identifiers.org/snomedct/201197000
property_value: closeMatch http://identifiers.org/snomedct/267813002
property_value: closeMatch http://identifiers.org/snomedct/72658003
property_value: exactMatch DOID:11153
property_value: exactMatch http://identifiers.org/snomedct/44279002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162423
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3241961

[Term]
id: MONDO:0006582
name: mongolian spot
def: "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." [https://en.wikipedia.org/wiki/Mongolian_spot]
synonym: "blue sacral spot" EXACT [NCIT:C3945]
synonym: "congenital dermal melanocytosis" EXACT [https://en.wikipedia.org/wiki/Mongolian_spot]
synonym: "Mongolian macula" EXACT [DOID:4702, NCIT:C3945]
xref: DOID:4702 {source="MONDO:equivalentTo", source="EFO:1000736"}
xref: EFO:1000736 {source="MONDO:equivalentTo"}
xref: MESH:D049328 {source="MONDO:equivalentTo", source="DOID:4702", source="MONDO:ontobio"}
xref: NCIT:C3945 {source="MONDO:equivalentTo", source="DOID:4702", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:40467008 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo", source="DOID:4702"}
xref: UMLS:C0265985 {source="MONDO:equivalentTo", source="DOID:4702", source="NCIT:C3945"}
xref: Wikipedia:Mongolian_spot {source="EFO:1000736"}
is_a: MONDO:0005093 {source="DOID:4702", source="EFO:1000736", source="NCIT:C3945/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/157017000
property_value: closeMatch http://identifiers.org/snomedct/268355000
property_value: exactMatch DOID:4702
property_value: exactMatch http://identifiers.org/mesh/D049328
property_value: exactMatch http://identifiers.org/snomedct/40467008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265985
property_value: exactMatch NCIT:C3945

[Term]
id: MONDO:0006583
name: necrobiosis lipoidica
def: "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes , in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." [https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica]
subset: gard_rare {source="GARD:0013040"}
subset: ordo_disease
synonym: "necrobiosis lipoidica" EXACT [DOID:3486]
synonym: "necrobiosis lipoidica diabeticorum (formerly)" RELATED DEPRECATED [GARD:0013040]
xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"}
xref: EFO:1000738 {source="MONDO:equivalentTo"}
xref: GARD:0013040 {source="MONDO:equivalentTo"}
xref: ICD10:L92.1 {source="GARD:0013040"}
xref: MESH:D009335 {source="DOID:3486", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34840 {source="DOID:3486", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:542592 {source="MONDO:equivalentTo"}
xref: SCTID:9418005 {source="DOID:3486", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0027538 {source="DOID:3486", source="MONDO:equivalentTo", source="NCIT:C34840"}
xref: Wikipedia:Necrobiosis_lipoidica {source="EFO:1000738"}
is_a: MONDO:0021154 {source="Orphanet:542592"} ! dermis disease
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:3486", source="EFO:1000738", source="MESH:D009335/inferred", source="NCIT:C34840/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156394009
property_value: closeMatch http://identifiers.org/snomedct/201317009
property_value: closeMatch http://identifiers.org/snomedct/201319007
property_value: exactMatch DOID:3486
property_value: exactMatch http://identifiers.org/mesh/D009335
property_value: exactMatch http://identifiers.org/snomedct/9418005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027538
property_value: exactMatch NCIT:C34840
property_value: exactMatch Orphanet:542592
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica xsd:anyURI {source="GARD:0013040"}

[Term]
id: MONDO:0006584
name: neonatal jaundice
def: "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." [NCIT:P378]
synonym: "neonatal hyperbilirubinemia" EXACT [DOID:2383]
synonym: "neonatal icterus" EXACT [DOID:2383]
xref: COHD:435656 {source="MONDO:equivalentTo"}
xref: DOID:2383 {source="EFO:1000739", source="MONDO:equivalentTo"}
xref: EFO:1000739 {source="MONDO:equivalentTo"}
xref: ICD10:P59.9 {source="DOID:2383"}
xref: ICD9:774.5 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:774.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007567 {source="MONDO:equivalentTo", source="DOID:2383"}
xref: SCTID:387712008 {source="MONDO:equivalentTo", source="DOID:2383", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0022353 {source="MONDO:equivalentTo", source="DOID:2383"}
is_a: MONDO:0006600 {source="DOID:2383", source="EFO:1000739", source="linkedlifedata"} ! pigmentation disease
property_value: closeMatch http://identifiers.org/snomedct/111470007
property_value: closeMatch http://identifiers.org/snomedct/206474007
property_value: closeMatch http://identifiers.org/snomedct/276549000
property_value: closeMatch http://identifiers.org/snomedct/299968002
property_value: closeMatch http://identifiers.org/snomedct/30235009
property_value: closeMatch http://identifiers.org/snomedct/31482007
property_value: exactMatch DOID:2383
property_value: exactMatch http://identifiers.org/mesh/D007567
property_value: exactMatch http://identifiers.org/snomedct/387712008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022353
property_value: exactMatch NCIT:C99246

[Term]
id: MONDO:0006585
name: neurodermatitis
def: "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." [NCIT:P378]
synonym: "lichen simplex Chronicus" EXACT [NCIT:C111963]
xref: DOID:3309 {source="EFO:1000740", source="MONDO:equivalentTo"}
xref: EFO:1000740 {source="MONDO:equivalentTo"}
xref: MESH:D009450 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3309"}
xref: NCIT:C111963 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3309"}
xref: SCTID:267854005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3309"}
xref: UMLS:C0027822 {source="MONDO:equivalentTo", source="NCIT:C111963", source="DOID:3309"}
xref: UMLS:C0149922 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002406 {source="DOID:3309", source="MESH:D009450", source="NCIT:C111963", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156383005
property_value: exactMatch DOID:3309
property_value: exactMatch http://identifiers.org/mesh/D009450
property_value: exactMatch http://identifiers.org/snomedct/267854005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149922
property_value: exactMatch NCIT:C111963

[Term]
id: MONDO:0006586
name: neurotic excoriation
def: "a condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." [EFO:1000741]
synonym: "dermatitis artefacta" EXACT [DOID:9165]
synonym: "dermatitis factitia" EXACT [DOID:9165]
synonym: "dermatitis factitia [artefacta]" EXACT [DOID:9165, ICD9CM_2006:698.4]
synonym: "dermatitis ficta" EXACT [DOID:9165, MTHICD9_2006:698.4]
synonym: "factitious skin disease" EXACT [DOID:9165]
xref: DOID:9165 {source="MONDO:equivalentTo", source="EFO:1000741"}
xref: EFO:1000741 {source="MONDO:equivalentTo"}
xref: ICD10:L98.1 {source="DOID:9165"}
xref: ICD9:300.19 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:698.4 {source="DOID:9165"}
xref: SCTID:402736003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:9165"}
xref: UMLS:C1274184 {source="MONDO:equivalentTo", source="DOID:9165"}
xref: Wikipedia:Neurotic_excoriations {source="EFO:1000741"}
is_a: MONDO:0002406 {source="DOID:9165"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156384004
property_value: closeMatch http://identifiers.org/snomedct/27720003
property_value: exactMatch DOID:9165
property_value: exactMatch http://identifiers.org/snomedct/402736003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274184

[Term]
id: MONDO:0006587
name: obsolete nodular nonsuppurative panniculitis
is_obsolete: true
replaced_by: MONDO:0018063

[Term]
id: MONDO:0006588
name: nonepidermolytic palmoplantar keratoderma
def: "Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13." [Orphanet:2337]
comment: Editor note: in ORDO this is AD but this leads to inconsistencies
subset: ordo_disease {source="Orphanet:2337"}
subset: ordo_inheritance_inconsistent
synonym: "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" NARROW [Orphanet:2337]
synonym: "diffuse nonepidermolytic palmomplantar keratoderma" EXACT [DOID:0050428]
synonym: "diffuse palmoplantar keratoderma, Bothnian type" EXACT [Orphanet:2337]
synonym: "NEPPK" EXACT [Orphanet:2337]
synonym: "non-epidermolytic palmoplantar keratoderma" RELATED [Orphanet:2337]
synonym: "Thost-Unna syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539]
synonym: "tylosis" EXACT [DOID:RELATED]
synonym: "Unna-Thost syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539]
xref: DOID:0050428 {source="MONDO:equivalentTo", source="EFO:1000743"}
xref: EFO:1000743 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:2337/attributed", source="ORDO:2337/ntbt", source="Orphanet:2337"}
xref: Orphanet:2337 {source="MONDO:equivalentTo", source="DOID:0050428"}
xref: SCTID:716105001 {source="MONDO:kboom-pr-0.68/0.32/0.23", source="MONDO:equivalentTo"}
is_a: MONDO:0017667 {source="MONDO:GeneralizedFromOrphanet", source="Orphanet:2337", source="Orphanet:2337/inferred"} ! isolated diffuse palmoplantar keratoderma
property_value: closeMatch http://identifiers.org/mesh/D015776
property_value: closeMatch http://identifiers.org/snomedct/205584004
property_value: closeMatch http://identifiers.org/snomedct/28596004
property_value: closeMatch http://identifiers.org/snomedct/81206005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833030
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838359
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489771
property_value: closeMatch NCIT:C3147
property_value: exactMatch DOID:0050428
property_value: exactMatch http://identifiers.org/snomedct/716105001
property_value: exactMatch Orphanet:2337

[Term]
id: MONDO:0006589
name: occupational dermatitis
def: "Contact dermatitis associated with allergens or irritants found in the workplace." [NCIT:P378]
synonym: "occupational allergic contact dermatitis" EXACT [DOID:4404]
synonym: "occupational dermatitis" EXACT [DOID:4404, NCIT:C34859]
synonym: "occupational eczema" EXACT [DOID:4404]
synonym: "occupational eczema (disorder) [ambiguous]" EXACT [DOID:4404]
xref: DOID:4404 {source="MONDO:equivalentTo", source="EFO:1000744"}
xref: EFO:1000744 {source="MONDO:equivalentTo"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009783 {source="DOID:4404", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34859 {source="DOID:4404", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:402587003 {source="DOID:4404", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.84/1.71"}
xref: UMLS:C0028796 {source="NCIT:C34859", source="DOID:4404", source="MONDO:equivalentTo"}
is_a: MONDO:0005480 {source="DOID:4404", source="EFO:1000744", source="MESH:D009783", source="MONDOLEX:0006589"} ! contact dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156338009
property_value: closeMatch http://identifiers.org/snomedct/200780008
property_value: closeMatch http://identifiers.org/snomedct/225055005
property_value: closeMatch http://identifiers.org/snomedct/238578002
property_value: closeMatch http://identifiers.org/snomedct/267842005
property_value: closeMatch http://identifiers.org/snomedct/83252008
property_value: exactMatch DOID:4404
property_value: exactMatch http://identifiers.org/mesh/D009783
property_value: exactMatch http://identifiers.org/snomedct/402587003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028796
property_value: exactMatch NCIT:C34859

[Term]
id: MONDO:0006590
name: palmoplantar keratosis
def: "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." [NCIT:C34748]
synonym: "keratoderma, palmoplantar" RELATED [GARD:0008167]
synonym: "keratosis palmaris et plantaris" EXACT [DOID:3390]
synonym: "palmoplantar keratoderma" EXACT [DOID:3390, NCIT:C34748]
xref: DOID:3390 {source="MONDO:equivalentTo", source="EFO:1000745"}
xref: EFO:1000745 {source="MONDO:equivalentTo"}
xref: GARD:0008167 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:L85.2 {source="DOID:3390"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C34748 {source="MONDO:equivalentTo", source="DOID:3390"}
xref: SCTID:706885006 {source="MONDO:equivalentTo", source="DOID:3390", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006566 {source="DOID:3390", source="EFO:1000745", source="NCIT:C34748"} ! keratosis
property_value: closeMatch http://identifiers.org/mesh/D007645
property_value: closeMatch http://identifiers.org/snomedct/205584004
property_value: closeMatch http://identifiers.org/snomedct/28596004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022596
property_value: exactMatch DOID:3390
property_value: exactMatch http://identifiers.org/snomedct/706885006
property_value: exactMatch NCIT:C34748

[Term]
id: MONDO:0006591
name: panniculitis
def: "Inflammation of the subcutaneous adipose tissue." [NCIT:P378]
synonym: "inflammation of subcutaneous adipose tissue" EXACT []
synonym: "Subcutaneous adipose tissue" EXACT [NCIT:C33645]
synonym: "subcutaneous adipose tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Subcutaneous tissue" EXACT [NCIT:C33645]
synonym: "subcutis" EXACT [NCIT:C33645]
xref: COHD:432719 {source="MONDO:equivalentTo"}
xref: DOID:1526 {source="MONDO:equivalentTo", source="EFO:1000746"}
xref: EFO:1000746 {source="MONDO:equivalentTo"}
xref: ICD10:M79.3 {source="DOID:1526"}
xref: ICD9:729.3 {source="DOID:1526"}
xref: ICD9:729.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:1526"}
xref: ICD9:729.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015434 {source="MONDO:equivalentTo", source="DOID:1526", source="MONDO:ontobio"}
xref: NCIT:C33645 {source="MONDO:equivalentTo"}
xref: SCTID:22125009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.12", source="DOID:1526"}
xref: UMLS:C0030326 {source="MONDO:equivalentTo", source="DOID:1526"}
xref: Wikipedia:Panniculitis {source="EFO:1000746"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0003900 {source="MESH:D015434", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease
is_a: MONDO:0021166 ! inflammatory disease
relationship: excluded_subClassOf MONDO:0005546 {source="DOID:1526"} ! fibromyalgia
property_value: closeMatch http://identifiers.org/snomedct/156779007
property_value: closeMatch http://identifiers.org/snomedct/203119008
property_value: closeMatch http://identifiers.org/snomedct/203120002
property_value: closeMatch http://identifiers.org/snomedct/203122005
property_value: closeMatch http://identifiers.org/snomedct/268012006
property_value: closeMatch http://identifiers.org/snomedct/268122002
property_value: exactMatch DOID:1526
property_value: exactMatch http://identifiers.org/mesh/D015434
property_value: exactMatch http://identifiers.org/snomedct/22125009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030326
property_value: exactMatch NCIT:C112112
property_value: exactMatch NCIT:C33645

[Term]
id: MONDO:0006592
name: parapsoriasis
def: "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis . However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids , and/or phototherapy . Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids ." [https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis]
subset: gard_rare {source="GARD:0007328"}
synonym: "digitate dermatosis" RELATED [GARD:0007328]
synonym: "parapsoriasis en plaque" RELATED [GARD:0007328]
xref: COHD:320798 {source="MONDO:equivalentTo"}
xref: DOID:9088 {source="MONDO:equivalentTo", source="EFO:1000747"}
xref: EFO:1000747 {source="MONDO:equivalentTo"}
xref: GARD:0007328 {source="MONDO:equivalentTo"}
xref: ICD10:L41 {source="MONDO:equivalentTo", source="DOID:9088"}
xref: ICD10:L41.9 {source="DOID:9088"}
xref: ICD9:696.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9088"}
xref: MESH:D010267 {source="MONDO:equivalentTo", source="DOID:9088", source="MONDO:ontobio"}
xref: NCIT:C3312 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9088"}
xref: SCTID:88233000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09", source="DOID:9088"}
xref: UMLS:C0030491 {source="MONDO:equivalentTo", source="NCIT:C3312", source="DOID:9088"}
xref: Wikipedia:Parapsoriasis {source="EFO:1000747"}
is_a: MONDO:0005083 {source="DOID:9088", source="EFO:1000747"} ! psoriasis
property_value: closeMatch http://identifiers.org/snomedct/156371008
property_value: closeMatch http://identifiers.org/snomedct/200979001
property_value: closeMatch http://identifiers.org/snomedct/200980003
property_value: closeMatch http://identifiers.org/snomedct/200991005
property_value: closeMatch http://identifiers.org/snomedct/238592008
property_value: closeMatch http://identifiers.org/snomedct/267851002
property_value: exactMatch DOID:9088
property_value: exactMatch http://identifiers.org/mesh/D010267
property_value: exactMatch http://identifiers.org/snomedct/88233000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030491
property_value: exactMatch NCIT:C3312
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis xsd:anyURI {source="GARD:0007328"}

[Term]
id: MONDO:0006593
name: pelvic lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." [NCIT:C27486]
subset: gard_rare {source="GARD:0007350"}
synonym: "Excess of mature unencapsulated fatty tissue in the pelvis" RELATED [GARD:0007350]
synonym: "pelvic lipomatosis" EXACT [NCIT:C27486]
synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [DOID:3927]
xref: DOID:3927 {source="MONDO:equivalentTo", source="EFO:1000748"}
xref: EFO:1000748 {source="MONDO:equivalentTo"}
xref: GARD:0007350 {source="MONDO:equivalentTo"}
xref: MESH:C535549 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3927"}
xref: NCIT:C27486 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3927"}
xref: UMLS:C0406608 {source="NCIT:C27486", source="MONDO:equivalentTo", source="DOID:3927"}
is_a: MONDO:0006574 {source="DOID:3927", source="EFO:1000748", source="MESH:C535549", source="NCIT:C27486"} ! lipomatosis
property_value: closeMatch http://identifiers.org/snomedct/190802005
property_value: exactMatch DOID:3927
property_value: exactMatch http://identifiers.org/mesh/C535549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406608
property_value: exactMatch NCIT:C27486
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis xsd:anyURI {source="GARD:0007350"}

[Term]
id: MONDO:0006594
name: pemphigus
def: "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" [https://rarediseases.info.nih.gov/diseases/7352/pemphigus]
subset: gard_rare {source="GARD:0007352"}
xref: COHD:135338 {source="MONDO:equivalentTo"}
xref: DOID:9182 {source="EFO:1000749", source="MONDO:equivalentTo"}
xref: EFO:1000749 {source="MONDO:equivalentTo"}
xref: GARD:0007352 {source="MONDO:equivalentTo"}
xref: ICD10:L10 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: ICD10:L10.9 {source="DOID:9182"}
xref: ICD9:694.4 {source="DOID:9182", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D010392 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: NCIT:C34909 {source="DOID:9182", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:65172003 {source="DOID:9182", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0030807 {source="DOID:9182", source="MONDO:equivalentTo", source="NCIT:C34909"}
xref: Wikipedia:Pemphigus {source="EFO:1000749"}
is_a: MONDO:0019337 {source="DOID:9182", source="EFO:1000749", source="EFO:1000749/inferred", source="linkedlifedata"} ! autoimmune bullous skin disease
property_value: closeMatch http://identifiers.org/snomedct/156355008
property_value: closeMatch http://identifiers.org/snomedct/200908008
property_value: exactMatch DOID:9182
property_value: exactMatch http://identifiers.org/mesh/D010392
property_value: exactMatch http://identifiers.org/snomedct/65172003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030807
property_value: exactMatch NCIT:C34909
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7352/pemphigus xsd:anyURI {source="GARD:0007352"}

[Term]
id: MONDO:0006595
name: perinatal jaundice due to hepatocellular damage
def: "jaundice in perinates due to cellular damange of liver" [EFO:1000750]
xref: COHD:195064 {source="MONDO:equivalentTo"}
xref: DOID:11452 {source="MONDO:equivalentTo", source="EFO:1000750"}
xref: EFO:1000750 {source="MONDO:equivalentTo"}
xref: ICD9:774.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:11452"}
xref: SCTID:10877007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.61", source="DOID:11452"}
xref: UMLS:C0158976 {source="MONDO:equivalentTo", source="DOID:11452"}
is_a: MONDO:0006584 {source="DOID:11452", source="EFO:1000750"} ! neonatal jaundice
property_value: closeMatch http://identifiers.org/snomedct/206463003
property_value: closeMatch http://identifiers.org/snomedct/206467002
property_value: exactMatch DOID:11452
property_value: exactMatch http://identifiers.org/snomedct/10877007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158976

[Term]
id: MONDO:0006596
name: photoallergic dermatitis
def: "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." [MESH:D017454]
synonym: "photoallergic contact dermatitis" EXACT [DOID:3818]
synonym: "photoallergic eczema" EXACT [DOID:3818]
xref: DOID:3818 {source="EFO:1000751", source="MONDO:equivalentTo"}
xref: EFO:1000751 {source="MONDO:equivalentTo"}
xref: ICD9:692.72 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D017454 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3818"}
xref: SCTID:111209006 {source="MONDO:equivalentTo", source="DOID:3818", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162824 {source="MONDO:equivalentTo", source="DOID:3818"}
xref: Wikipedia:Photodermatitis {source="EFO:1000751"}
is_a: MONDO:0006525 {source="DOID:3818", source="EFO:1000751", source="MESH:D017454", source="MONDO:Redundant", source="MONDOLEX:0006596"} ! allergic contact dermatitis
is_a: MONDO:0006597 {source="DOID:3818", source="MESH:D017454", source="MONDO:Redundant", source="linkedlifedata"} ! photosensitivity disease
intersection_of: MONDO:0006525 ! allergic contact dermatitis
intersection_of: MONDO:0006597 ! photosensitivity disease
property_value: closeMatch http://identifiers.org/snomedct/238523008
property_value: closeMatch http://identifiers.org/snomedct/238524002
property_value: closeMatch http://identifiers.org/snomedct/367334003
property_value: exactMatch DOID:3818
property_value: exactMatch http://identifiers.org/mesh/D017454
property_value: exactMatch http://identifiers.org/snomedct/111209006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162824

[Term]
id: MONDO:0006597
name: photosensitivity disease
def: "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." [MESH:D010787]
synonym: "disorder, photosensitivity" EXACT [MESH:D010787]
synonym: "disorders, photosensitivity" EXACT [MESH:D010787]
synonym: "photodermatitides" EXACT [MESH:D010787]
synonym: "photodermatitis" EXACT [MESH:D010787]
synonym: "photodermatosis" EXACT []
synonym: "photosensitivity disorder" EXACT [MESH:D010787]
synonym: "photosensitization" EXACT [MESH:D010787]
xref: DOID:3159 {source="MONDO:equivalentTo", source="EFO:1000752"}
xref: EFO:1000752 {source="MONDO:equivalentTo"}
xref: MESH:D010787 {source="DOID:3159", source="MONDO:equivalentTo"}
xref: SCTID:22649008 {source="DOID:3159", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: UMLS:C0031762 {source="DOID:3159", source="MONDO:equivalentTo"}
is_a: MONDO:0043771 ! radiodermatitis
property_value: exactMatch DOID:3159
property_value: exactMatch http://identifiers.org/mesh/D010787
property_value: exactMatch http://identifiers.org/snomedct/22649008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031762

[Term]
id: MONDO:0006598
name: phototoxic dermatitis
def: "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." [NCIT:C4816]
synonym: "Photodermatitis" EXACT [NCIT:C4816]
synonym: "Photosensitisation reaction" EXACT [DOID:4407]
synonym: "photosensitive dermatitis" EXACT [DOID:4407, NCIT:C4816]
synonym: "photosensitiveness" EXACT [DOID:4407, MTHICD9_2006:692.79]
synonym: "photosensitivity reaction" EXACT [NCIT:C4816]
xref: DOID:4407 {source="MONDO:equivalentTo", source="EFO:1000753"}
xref: EFO:1000753 {source="MONDO:equivalentTo"}
xref: MESH:D017484 {source="MONDO:equivalentTo", source="DOID:4407", source="MONDO:ontobio"}
xref: NCIT:C4816 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="DOID:4407"}
xref: SCTID:53597009 {source="MONDO:kboom-pr-0.96/0.76/2.17", source="MONDO:equivalentTo", source="DOID:4407"}
xref: UMLS:C0162830 {source="NCIT:C4816", source="MONDO:equivalentTo", source="DOID:4407"}
xref: Wikipedia:Photodermatitis {source="EFO:1000753"}
is_a: MONDO:0006564 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDO:Entailed", source="MONDO:Redundant"} ! irritant dermatitis
is_a: MONDO:0006597 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDOLEX:0006598", source="linkedlifedata"} ! photosensitivity disease
property_value: closeMatch http://identifiers.org/snomedct/84326006
property_value: exactMatch DOID:4407
property_value: exactMatch http://identifiers.org/mesh/D017484
property_value: exactMatch http://identifiers.org/snomedct/53597009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162830
property_value: exactMatch NCIT:C4816

[Term]
id: MONDO:0006599
name: physical urticaria
def: "a distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." [https://en.wikipedia.org/wiki/Physical_urticaria]
comment: Editor note: use ECTO to axiomatize
xref: DOID:0060220 {source="MONDO:equivalentTo", source="EFO:1000754"}
xref: EFO:1000754 {source="MONDO:equivalentTo"}
xref: SCTID:402601007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005492 {source="DOID:0060220", source="EFO:1000754", source="linkedlifedata"} ! urticaria (disease)
property_value: exactMatch DOID:0060220
property_value: exactMatch http://identifiers.org/snomedct/402601007

[Term]
id: MONDO:0006600
name: pigmentation disease
comment: This class covers pigmentation disorders of the skin, as well as those affecting the eyes
synonym: "disorder of pigmentation" EXACT []
xref: SCTID:414032001 {source="MONDO:equivalentTo"}
is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted
property_value: exactMatch http://identifiers.org/snomedct/414032001

[Term]
id: MONDO:0006601
name: pityriasis rosea
def: "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." [NCIT:P378]
synonym: "Pityriasis circinata" EXACT [DOID:8892, MTHICD9_2006:696.3]
synonym: "Pityriasis rosea" EXACT [DOID:8892, NCIT:C26855]
xref: COHD:141371 {source="MONDO:equivalentTo"}
xref: DOID:8892 {source="MONDO:equivalentTo", source="EFO:1000756"}
xref: EFO:1000756 {source="MONDO:equivalentTo"}
xref: ICD10:L42 {source="MONDO:equivalentTo", source="DOID:8892"}
xref: ICD9:696.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:8892"}
xref: MESH:D017515 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8892"}
xref: NCIT:C26855 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8892"}
xref: SCTID:77252004 {source="MONDO:equivalentTo", source="DOID:8892", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032026 {source="MONDO:equivalentTo", source="NCIT:C26855", source="DOID:8892"}
xref: Wikipedia:Pityriasis_rosea {source="EFO:1000756"}
is_a: MONDO:0002406 {source="NCIT:C26855"} ! dermatitis
is_a: MONDO:0006547 {source="EFO:1000756", source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
relationship: excluded_subClassOf MONDO:0005083 {source="DOID:8892", source="EFO:1000756"} ! psoriasis
property_value: closeMatch http://identifiers.org/snomedct/156373006
property_value: exactMatch DOID:8892
property_value: exactMatch http://identifiers.org/mesh/D017515
property_value: exactMatch http://identifiers.org/snomedct/77252004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032026
property_value: exactMatch NCIT:C26855

[Term]
id: MONDO:0006602
name: porokeratosis (disease)
def: "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:79358"}
synonym: "disseminated superficial actinic porokeratosis" EXACT EXCLUDE [DOID:3805]
synonym: "porokeratosis" EXACT [MONDO:ambiguous]
xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"}
xref: EFO:1000757 {source="MONDO:equivalentTo"}
xref: HP:0200044 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L56.5 {source="DOID:3805"}
xref: ICD10:Q82.8 {source="Orphanet:79358", source="ORDO:79358/ntbt"}
xref: ICD9:692.75 {source="MONDO:superClassOf", source="DOID:3805"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036175 {source="Orphanet:79358", source="ORDO:79358/e"}
xref: NCIT:C85019 {source="MONDO:kboom-pr-1.00/0.85/15.41", source="MONDO:equivalentTo", source="DOID:3805"}
xref: OMIMPS:175800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79358 {source="MONDO:equivalentTo"}
xref: SCTID:400080004 {source="MONDO:equivalentTo", source="DOID:3805", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: UMLS:C0162839 {source="NCIT:C85019", source="Orphanet:79358", source="MONDO:equivalentTo", source="DOID:3805", source="ORDO:79358/e"}
xref: Wikipedia:Porokeratosis {source="EFO:1000757"}
is_a: MONDO:0006566 {source="DOID:3805", source="EFO:1000757"} ! keratosis
is_a: MONDO:0019268 {source="Orphanet:79358"} ! epidermal disease
property_value: closeMatch http://identifiers.org/snomedct/201086003
property_value: closeMatch http://identifiers.org/snomedct/238630009
property_value: exactMatch DOID:3805
property_value: exactMatch http://identifiers.org/meddra/10036175
property_value: exactMatch http://identifiers.org/mesh/D017499
property_value: exactMatch http://identifiers.org/snomedct/400080004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162839
property_value: exactMatch NCIT:C85019
property_value: exactMatch Orphanet:79358

[Term]
id: MONDO:0006603
name: reactive cutaneous fibrous lesion
def: "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." [NCIT:P378]
xref: DOID:2053 {source="MONDO:equivalentTo", source="EFO:1000759"}
xref: EFO:1000759 {source="MONDO:equivalentTo"}
xref: NCIT:C27549 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2053"}
xref: UMLS:C1335666 {source="MONDO:equivalentTo", source="NCIT:C27549", source="DOID:2053"}
is_a: MONDO:0005093 {source="DOID:2053", source="EFO:1000759", source="NCIT:C27549/inferred"} ! skin disease
property_value: exactMatch DOID:2053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335666
property_value: exactMatch NCIT:C27549

[Term]
id: MONDO:0006604
name: rosacea
def: "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." [NCIT:P378]
synonym: "acne rosacea" EXACT [NCIT:C97136]
synonym: "acne roscea" EXACT [DOID:8881]
synonym: "acne, erythematosa" EXACT [DOID:8881, MTHICD9_2006:695.3]
xref: COHD:136773 {source="MONDO:equivalentTo"}
xref: DOID:8881 {source="EFO:1000760", source="MONDO:equivalentTo"}
xref: EFO:1000760 {source="MONDO:equivalentTo"}
xref: ICD10:L71 {source="MONDO:equivalentTo", source="DOID:8881"}
xref: ICD10:L71.9 {source="DOID:8881"}
xref: ICD9:695.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:8881"}
xref: MESH:D012393 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8881"}
xref: NCIT:C97136 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8881"}
xref: SCTID:398909004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8881"}
xref: UMLS:C0035854 {source="MONDO:equivalentTo", source="DOID:8881", source="NCIT:C97136"}
xref: Wikipedia:Rosacea {source="EFO:1000760"}
is_a: MONDO:0005093 {source="DOID:8881", source="EFO:1000760", source="MESH:D012393", source="NCIT:C97136/inferred"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156364003
property_value: closeMatch http://identifiers.org/snomedct/1612004
property_value: closeMatch http://identifiers.org/snomedct/200930009
property_value: closeMatch http://identifiers.org/snomedct/200935004
property_value: closeMatch http://identifiers.org/snomedct/267849001
property_value: exactMatch DOID:8881
property_value: exactMatch http://identifiers.org/mesh/D012393
property_value: exactMatch http://identifiers.org/snomedct/398909004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035854
property_value: exactMatch NCIT:C97136

[Term]
id: MONDO:0006605
name: scalp dermatosis
def: "dermotosis of scalp" [EFO:1000761]
synonym: "dermatosis of scalp" EXACT [DOID:3136]
xref: DOID:3136 {source="MONDO:equivalentTo", source="EFO:1000761"}
xref: EFO:1000761 {source="MONDO:equivalentTo"}
xref: MESH:D012536 {source="DOID:3136", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:402694007 {source="DOID:3136", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0036271 {source="DOID:3136", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:3136", source="EFO:1000761", source="MESH:D012536", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: exactMatch DOID:3136
property_value: exactMatch http://identifiers.org/mesh/D012536
property_value: exactMatch http://identifiers.org/snomedct/402694007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036271

[Term]
id: MONDO:0006606
name: scleredema adultorum
def: "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." [NCIT:C85057]
synonym: "Buschke scleredema" RELATED [MESH:D012592]
synonym: "Buschke scleredema adultorum" RELATED [MESH:D012592]
synonym: "Buschke scleredema Diabeticorum" RELATED [MESH:D012592]
synonym: "Buschke's scleredema" EXACT [CSP2005:2716-6810, DOID:3140, MESH:D012592]
synonym: "Buschkes scleredema" RELATED [MESH:D012592]
synonym: "Diabeticorum, scleredema" RELATED [MESH:D012592]
synonym: "Diabeticorums, scleredema" RELATED [MESH:D012592]
synonym: "scleredema" RELATED [MESH:D012592]
synonym: "scleredema adultorum" EXACT [NCIT:C85057]
synonym: "scleredema adultorum of Buschke" RELATED [MESH:D012592]
synonym: "scleredema Diabeticorum" RELATED [MESH:D012592]
synonym: "scleredema Diabeticorum of Buschke" RELATED [MESH:D012592]
synonym: "scleredema Diabeticorums" RELATED [MESH:D012592]
synonym: "scleredema, Buschke's" RELATED [MESH:D012592]
synonym: "Scleredemas" RELATED [MESH:D012592]
xref: DOID:3140 {source="EFO:1000762", source="MONDO:equivalentTo"}
xref: EFO:1000762 {source="MONDO:equivalentTo"}
xref: MESH:D012592 {source="MONDO:equivalentTo", source="DOID:3140"}
xref: NCIT:C85057 {source="MONDO:equivalentTo", source="DOID:3140"}
xref: UMLS:C0036413 {source="MONDO:equivalentTo", source="NCIT:C85057", source="DOID:3140"}
is_a: MONDO:0002523 {source="DOID:3140", source="MESH:D012592"} ! cutaneous mucinosis
property_value: closeMatch http://identifiers.org/snomedct/72967001
property_value: exactMatch DOID:3140
property_value: exactMatch http://identifiers.org/mesh/D012592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036413
property_value: exactMatch NCIT:C85057

[Term]
id: MONDO:0006607
name: sebaceous gland disease
def: "A disease involving the sebaceous gland." [MONDO:DesignPattern]
synonym: "disease of sebaceous gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of sebaceous glands" RELATED []
synonym: "disease or disorder of sebaceous gland" EXACT []
synonym: "disorder of sebaceous gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sebaceous gland" RELATED [MONDO:patterns/location_top]
synonym: "sebaceous gland disease" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:9098 {source="MONDO:equivalentTo", source="EFO:1000763"}
xref: EFO:1000763 {source="MONDO:equivalentTo"}
xref: ICD10:L70.8 {source="DOID:9098"}
xref: ICD9:706.1 {source="DOID:9098"}
xref: MESH:D012625 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:3441005 {source="MONDO:equivalentTo"}
xref: UMLS:C0036502 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002917 ! disease of pilosebaceous unit
is_a: MONDO:0005093 {source="DOID:9098", source="EFO:1000763", source="MESH:D012625"} ! skin disease
is_a: MONDO:0024481 {source="linkedlifedata"} ! skin appendage disease
property_value: closeMatch http://identifiers.org/snomedct/201213005
property_value: closeMatch http://identifiers.org/snomedct/201230007
property_value: closeMatch http://identifiers.org/snomedct/201401002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029485
property_value: exactMatch DOID:9098
property_value: exactMatch http://identifiers.org/mesh/D012625
property_value: exactMatch http://identifiers.org/snomedct/3441005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036502

[Term]
id: MONDO:0006608
name: seborrheic dermatitis (disease)
def: "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." [NCIT:C111888]
synonym: "cradle Cap" EXACT [NCIT:C111888]
synonym: "seborrhea" EXACT [CSP2005:4008-0032, DOID:8741, NCIT:C111888]
synonym: "seborrheic dermatitis" EXACT [MONDO:ambiguous, NCIT:C111888]
synonym: "seborrheic eczema" EXACT [NCIT:C111888]
synonym: "Seborrhoeic dermatitis" EXACT [DOID:8741]
synonym: "Seborrhoeic eczema" EXACT [DOID:8741]
synonym: "skin seborrheic" EXACT [DOID:8741, MTH:NOCODE]
xref: DOID:8741 {source="MONDO:equivalentTo", source="EFO:1000764"}
xref: EFO:1000764 {source="MONDO:equivalentTo"}
xref: HP:0001051 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L21 {source="DOID:8741"}
xref: ICD10:L21.9 {source="DOID:8741"}
xref: ICD9:690.1 {source="DOID:8741"}
xref: ICD9:690.10 {source="DOID:8741"}
xref: ICD9:706.3 {source="DOID:8741"}
xref: MESH:D012628 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8741"}
xref: NCIT:C111888 {source="MONDO:equivalentTo", source="DOID:8741"}
xref: UMLS:C0036508 {source="MONDO:equivalentTo", source="DOID:8741", source="NCIT:C111888"}
is_a: MONDO:0002406 {source="DOID:8741", source="MESH:D012628", source="NCIT:C111888"} ! dermatitis
property_value: closeMatch http://identifiers.org/snomedct/156328004
property_value: closeMatch http://identifiers.org/snomedct/156421006
property_value: closeMatch http://identifiers.org/snomedct/200764003
property_value: closeMatch http://identifiers.org/snomedct/201241009
property_value: closeMatch http://identifiers.org/snomedct/50563003
property_value: closeMatch http://identifiers.org/snomedct/86708008
property_value: exactMatch DOID:8741
property_value: exactMatch http://identifiers.org/mesh/D012628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036508
property_value: exactMatch NCIT:C111888

[Term]
id: MONDO:0006609
name: seborrheic infantile dermatitis
def: "Excessive shedding of dry scaly material from the scalp in humans." [MESH:D063807]
synonym: "complement 5 dysfunction" EXACT [DOID:8941]
synonym: "cradle cap" EXACT [DOID:8941]
synonym: "generalized seborrheic dermatitis of infants" EXACT [DOID:8941]
synonym: "infantile seborrheic dermatitis" EXACT [DOID:8941]
synonym: "infantile seborrhoeic dermatitis" EXACT [DOID:8941]
synonym: "Pityriasis capitis" EXACT [DOID:8941]
synonym: "scalp seborrheic dermatitis (disease)" EXACT [MONDO:patterns/location]
synonym: "seborrhea capitis" EXACT [DOID:8941]
synonym: "seborrhea sicca" EXACT [DOID:8941]
synonym: "seborrheic dermatitis (disease) of scalp" EXACT []
synonym: "Seborrhoea capitis" EXACT [DOID:8941]
synonym: "Seborrhoeic dermatitis of scalp" EXACT [DOID:8941]
synonym: "Seborrhoeic eczema of scalp" EXACT [DOID:8941]
xref: COHD:141654 {source="MONDO:equivalentTo"}
xref: DOID:8941 {source="MONDO:equivalentTo", source="EFO:1000765"}
xref: EFO:1000765 {source="MONDO:equivalentTo"}
xref: ICD10:L21.0 {source="DOID:8941", source="MONDO:equivalentTo"}
xref: ICD9:690.11 {source="DOID:8941"}
xref: UMLS:C0221244 {source="DOID:8941", source="MONDO:equivalentTo"}
is_a: MONDO:0006608 {source="DOID:8941", source="EFO:1000765", source="MONDO:Redundant", source="MONDOLEX:0006609"} ! seborrheic dermatitis (disease)
is_a: MONDO:0044999 ! scalp disease
property_value: closeMatch http://identifiers.org/mesh/D063807
property_value: closeMatch http://identifiers.org/snomedct/156327009
property_value: closeMatch http://identifiers.org/snomedct/156329007
property_value: closeMatch http://identifiers.org/snomedct/200763009
property_value: closeMatch http://identifiers.org/snomedct/200764003
property_value: closeMatch http://identifiers.org/snomedct/201177005
property_value: closeMatch http://identifiers.org/snomedct/28431005
property_value: closeMatch http://identifiers.org/snomedct/48596006
property_value: closeMatch http://identifiers.org/snomedct/77592001
property_value: exactMatch DOID:8941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221244

[Term]
id: MONDO:0006610
name: skin atrophy
def: "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." [NCIT:P378]
synonym: "atrophic condition of skin" EXACT [DOID:2733]
synonym: "atrophic skin" EXACT [NCIT:C35163]
synonym: "atrophoderma" EXACT [DOID:2733]
synonym: "atrophy - skin" EXACT [DOID:2733]
synonym: "atrophy of skin" EXACT [NCIT:C35163]
xref: COHD:134118 {source="MONDO:equivalentTo"}
xref: DOID:2733 {source="MONDO:equivalentTo", source="EFO:1000766"}
xref: EFO:1000766 {source="MONDO:equivalentTo"}
xref: ICD10:L90 {source="DOID:2733"}
xref: ICD10:L90.9 {source="DOID:2733"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35163 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2733"}
xref: SCTID:400190005 {source="MONDO:equivalentTo", source="DOID:2733", source="MONDO:kboom-pr-0.89/0.76/0.30"}
xref: UMLS:C0151514 {source="NCIT:C35163", source="MONDO:equivalentTo", source="DOID:2733"}
xref: Wikipedia:Steroid_atrophy {source="EFO:1000766"}
is_a: MONDO:0005093 {source="DOID:2733", source="EFO:1000766", source="NCIT:C35163/inferred", source="linkedlifedata"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156391001
property_value: closeMatch http://identifiers.org/snomedct/16343004
property_value: closeMatch http://identifiers.org/snomedct/201090001
property_value: closeMatch http://identifiers.org/snomedct/267857003
property_value: closeMatch http://identifiers.org/snomedct/399979006
property_value: exactMatch DOID:2733
property_value: exactMatch http://identifiers.org/snomedct/400190005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151514
property_value: exactMatch NCIT:C35163

[Term]
id: MONDO:0006611
name: skin sarcoidosis
def: "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." [NCIT:P378]
synonym: "cutaneous sarcoid" EXACT [DOID:13402]
synonym: "cutaneous sarcoidosis" EXACT [DOID:13402, NCIT:C34996]
synonym: "sarcoidosis of zone of skin" EXACT [MONDO:design_pattern]
synonym: "zone of skin sarcoidosis" EXACT [MONDO:patterns/location]
xref: COHD:4185547 {source="MONDO:equivalentTo"}
xref: DOID:13402 {source="MONDO:equivalentTo", source="EFO:1000767"}
xref: EFO:1000767 {source="MONDO:equivalentTo"}
xref: ICD10:D86.3 {source="MONDO:equivalentTo", source="DOID:13402"}
xref: NCIT:C34996 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13402"}
xref: SCTID:55941000 {source="MONDO:kboom-pr-1.00/0.91/27.01", source="MONDO:equivalentTo", source="DOID:13402"}
xref: UMLS:C0036203 {source="MONDO:equivalentTo", source="NCIT:C34996", source="DOID:13402"}
xref: Wikipedia:Cutaneous_manifestations_of_sarcoidosis {source="EFO:1000767"}
is_a: MONDO:0005093 ! skin disease
is_a: MONDO:0019338 {source="DOID:13402", source="MONDO:Redundant", source="NCIT:C34996", source="linkedlifedata/inferred"} ! sarcoidosis
property_value: closeMatch http://identifiers.org/snomedct/187234008
property_value: exactMatch DOID:13402
property_value: exactMatch http://identifiers.org/snomedct/55941000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036203
property_value: exactMatch NCIT:C34996

[Term]
id: MONDO:0006612
name: steroid lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." [NCIT:C27487]
synonym: "steroid lipomatosis" EXACT [NCIT:C27487]
xref: DOID:3925 {source="MONDO:equivalentTo", source="EFO:1000769"}
xref: EFO:1000769 {source="MONDO:equivalentTo"}
xref: NCIT:C27487 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3925"}
xref: UMLS:C1336506 {source="NCIT:C27487", source="MONDO:equivalentTo", source="DOID:3925"}
is_a: MONDO:0006574 {source="DOID:3925", source="EFO:1000769", source="NCIT:C27487"} ! lipomatosis
property_value: exactMatch DOID:3925
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336506
property_value: exactMatch NCIT:C27487

[Term]
id: MONDO:0006613
name: stromal corneal pigmentation
def: "stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." [EFO:1000770]
synonym: "stromal corneal pigmentations" EXACT [DOID:12311, ICD9CM_2006:371.12]
xref: DOID:12311 {source="EFO:1000770", source="MONDO:equivalentTo"}
xref: EFO:1000770 {source="MONDO:equivalentTo"}
xref: ICD10:H18.06 {source="DOID:12311"}
xref: ICD9:371.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:12311"}
xref: SCTID:55031000 {source="MONDO:equivalentTo", source="DOID:12311", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155105 {source="MONDO:equivalentTo", source="DOID:12311"}
is_a: MONDO:0001308 {source="DOID:12311", source="linkedlifedata"} ! corneal deposit
is_a: MONDO:0006600 {source="DOID:12311", source="EFO:1000770", source="linkedlifedata"} ! pigmentation disease
property_value: exactMatch DOID:12311
property_value: exactMatch http://identifiers.org/snomedct/55031000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155105

[Term]
id: MONDO:0006614
name: subcorneal pustular dermatosis
def: "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." [Orphanet:48377]
subset: ordo_disease {source="Orphanet:48377"}
synonym: "pustulosis subcornealis" EXACT [Orphanet:48377]
synonym: "Sneddon-Wilkinson disease" EXACT [Orphanet:48377]
synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [DOID:8508, MTHICD9_2006:694.1]
synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377]
synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM_2006:694.1]
xref: COHD:134117 {source="MONDO:equivalentTo"}
xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"}
xref: EFO:1000771 {source="MONDO:equivalentTo"}
xref: ICD10:L13.1 {source="DOID:8508", source="ORDO:48377/e", source="Orphanet:48377"}
xref: ICD9:694.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8508"}
xref: MedDRA:10042342 {source="ORDO:48377/e", source="Orphanet:48377"}
xref: Orphanet:48377 {source="MONDO:equivalentTo"}
xref: SCTID:25147002 {source="MONDO:equivalentTo", source="DOID:8508", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0600336 {source="MONDO:equivalentTo", source="DOID:8508", source="ORDO:48377/e", source="Orphanet:48377"}
is_a: MONDO:0019337 {source="DOID:8508", source="EFO:1000771", source="linkedlifedata"} ! autoimmune bullous skin disease
is_a: MONDO:0019546 {source="Orphanet:48377"} ! other acquired skin disease
property_value: exactMatch DOID:8508
property_value: exactMatch http://identifiers.org/meddra/10042342
property_value: exactMatch http://identifiers.org/snomedct/25147002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600336
property_value: exactMatch Orphanet:48377

[Term]
id: MONDO:0006615
name: sweat gland disease
def: "A disease involving the sweat gland." [MONDO:DesignPattern]
synonym: "disease of sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of sweat glands" RELATED []
synonym: "disease or disorder of sweat gland" EXACT []
synonym: "disorder of sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sweat gland" RELATED [MONDO:patterns/location_top]
synonym: "disorder of sweat glands" RELATED []
synonym: "sweat gland disease" EXACT [MONDO:patterns/location]
synonym: "sweat gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1383 {source="MONDO:equivalentTo", source="EFO:1000772"}
xref: EFO:1000772 {source="MONDO:equivalentTo"}
xref: ICD10:L74 {source="DOID:1383"}
xref: ICD10:L74.9 {source="DOID:1383"}
xref: ICD9:705 {source="DOID:1383"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:705.9 {source="DOID:1383", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013543 {source="DOID:1383", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:88232005 {source="DOID:1383", source="MONDO:equivalentTo"}
xref: UMLS:C0038986 {source="DOID:1383", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:1383", source="EFO:1000772", source="MESH:D013543"} ! skin disease
property_value: closeMatch http://identifiers.org/snomedct/156413000
property_value: closeMatch http://identifiers.org/snomedct/201209003
property_value: exactMatch DOID:1383
property_value: exactMatch http://identifiers.org/mesh/D013543
property_value: exactMatch http://identifiers.org/snomedct/88232005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038986

[Term]
id: MONDO:0006616
name: toxicodendron dermatitis
def: "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)" [MESH:D011040]
synonym: "contact dermatitis due to genus Toxicodendron" EXACT [DOID:3819]
synonym: "Rhus dermatitis" EXACT [CSP2005:2716-6989, DOID:3819]
xref: DOID:3819 {source="EFO:1000773", source="MONDO:equivalentTo"}
xref: EFO:1000773 {source="MONDO:equivalentTo"}
xref: ICD9:692.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011040 {source="DOID:3819", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:410049000 {source="DOID:3819", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032342 {source="DOID:3819", source="MONDO:equivalentTo"}
is_a: MONDO:0006525 {source="DOID:3819", source="EFO:1000773", source="MESH:D011040"} ! allergic contact dermatitis
property_value: exactMatch DOID:3819
property_value: exactMatch http://identifiers.org/mesh/D011040
property_value: exactMatch http://identifiers.org/snomedct/410049000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032342

[Term]
id: MONDO:0006617
name: vesiculobullous skin disease
def: "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" [MESH:D012872]
synonym: "bullous dermatoses" RELATED [MESH:D012872]
synonym: "bullous skin disease" RELATED [MESH:D012872]
synonym: "bullous skin diseases" RELATED [MESH:D012872]
synonym: "dermatoses, bullous" RELATED [MESH:D012872]
synonym: "dermatoses, subcorneal pustular" RELATED [MESH:D012872]
synonym: "dermatoses, vesiculobullous" RELATED [MESH:D012872]
synonym: "dermatosis, subcorneal pustular" RELATED [MESH:D012872]
synonym: "pustular dermatoses, subcorneal" RELATED [MESH:D012872]
synonym: "pustular dermatosis, subcorneal" RELATED [MESH:D012872]
synonym: "skin disease, bullous" RELATED [MESH:D012872]
synonym: "skin disease, vesicular" RELATED [MESH:D012872]
synonym: "skin disease, vesiculobullous" RELATED [MESH:D012872]
synonym: "skin diseases, bullous" RELATED [MESH:D012872]
synonym: "skin diseases, vesicular" NARROW [MESH:D012872]
synonym: "Sneddon Wilkinson disease" NARROW [MESH:D012872]
synonym: "Sneddon-Wilkinson disease" NARROW [MESH:D012872]
synonym: "subcorneal pustular dermatoses" NARROW [MESH:D012872]
synonym: "subcorneal pustular dermatosis" NARROW [MESH:D012872]
synonym: "vesicular skin disease" RELATED [MESH:D012872]
synonym: "vesicular skin diseases" RELATED [MESH:D012872]
synonym: "vesiculobullous dermatoses" RELATED [MESH:D012872]
synonym: "vesiculobullous skin disease" EXACT [MESH:D012872]
synonym: "vesiculobullous skin diseases" RELATED [MESH:D012872]
xref: DOID:2731 {source="MONDO:equivalentTo", source="EFO:1000774"}
xref: EFO:1000774 {source="MONDO:equivalentTo"}
xref: MESH:D012872 {source="MONDO:equivalentTo", source="DOID:2731", source="EFO:1000774"}
xref: UMLS:C0037275 {source="MONDO:equivalentTo", source="DOID:2731"}
is_a: MONDO:0005093 {source="DOID:2731", source="EFO:1000774", source="MESH:D012872", source="MONDO:Redundant"} ! skin disease
property_value: exactMatch DOID:2731
property_value: exactMatch http://identifiers.org/mesh/D012872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037275

[Term]
id: MONDO:0006618
name: vibratory urticaria
def: "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[" [EFO:1000775]
comment: Editor note: TODO add ECTO
xref: COHD:139100 {source="MONDO:equivalentTo"}
xref: DOID:1554 {source="MONDO:equivalentTo", source="EFO:1000775"}
xref: EFO:1000775 {source="MONDO:equivalentTo"}
xref: GARD:0009806 {source="MONDO:equivalentTo"}
xref: ICD10:L50.4 {source="MONDO:equivalentTo", source="DOID:1554"}
xref: ICD9:708.4 {source="MONDO:equivalentTo", source="DOID:1554", source="i2s"}
xref: SCTID:51247001 {source="MONDO:equivalentTo", source="DOID:1554", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0157743 {source="MONDO:equivalentTo", source="DOID:1554"}
xref: Wikipedia:Urticaria#Vibratory_angioedema {source="EFO:1000775"}
is_a: MONDO:0006599 {source="DOID:1554", source="EFO:1000775"} ! physical urticaria
property_value: exactMatch DOID:1554
property_value: exactMatch http://identifiers.org/snomedct/51247001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157743

[Term]
id: MONDO:0006619
name: viral exanthem
def: "a virus-induced exanthem" [EFO:1000776]
xref: COHD:140020 {source="MONDO:equivalentTo"}
xref: DOID:8672 {source="MONDO:equivalentTo", source="EFO:1000776"}
xref: EFO:1000776 {source="MONDO:equivalentTo"}
xref: ICD9:057.8 {source="MONDO:relatedTo", source="i2s", source="DOID:8672"}
xref: ICD9:057.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:49882001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="DOID:8672", source="EFO:1000776", source="linkedlifedata"} ! exanthem (disease)
property_value: closeMatch http://identifiers.org/snomedct/186577001
property_value: closeMatch http://identifiers.org/snomedct/186583003
property_value: closeMatch http://identifiers.org/snomedct/186585005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029841
property_value: exactMatch DOID:8672
property_value: exactMatch http://identifiers.org/snomedct/49882001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153062

[Term]
id: MONDO:0006620
name: vulva fibroepithelial polyp
def: "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:P378]
synonym: "fibroepithelial polyp of the vulva" EXACT [NCIT:C6857]
synonym: "fibroepithelial polyp of vulva" EXACT [NCIT:C6857]
synonym: "mammalian vulva skin tag" EXACT [MONDO:patterns/location]
synonym: "skin tag of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulval fibroepithelial polyp" EXACT [DOID:8255, NCIT:C6857]
synonym: "vulvar fibroepithelial polyp" EXACT [NCIT:C6857]
synonym: "vulvar fibroepithelial stromal polyp" EXACT [NCIT:C6857]
xref: DOID:8255 {source="MONDO:equivalentTo", source="EFO:1000777"}
xref: EFO:1000777 {source="MONDO:equivalentTo"}
xref: NCIT:C6857 {source="MONDO:equivalentTo", source="DOID:8255", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1336978 {source="MONDO:equivalentTo", source="DOID:8255", source="NCIT:C6857"}
is_a: MONDO:0021396 {source="MONDO:Redundant", source="MONDOLEX:0006620", source="NCIT:C6857"} ! polyp of vulva
is_a: MONDO:0060765 {source="NCIT:C6857"} ! fibroepithelial polyp
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8255"} ! skin tag
property_value: exactMatch DOID:8255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336978
property_value: exactMatch NCIT:C6857

[Term]
id: MONDO:0006621
name: vulvar inverted follicular keratosis
def: "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." [NCIT:P378]
synonym: "inverted follicular keratosis of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva inverted follicular keratosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:6943 {source="MONDO:equivalentTo", source="EFO:1000778"}
xref: EFO:1000778 {source="MONDO:equivalentTo"}
xref: NCIT:C40291 {source="DOID:6943", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1520084 {source="DOID:6943", source="NCIT:C40291", source="MONDO:equivalentTo"}
is_a: MONDO:0006563 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! inverted follicular keratosis
is_a: MONDO:0006622 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! vulvar seborrheic keratosis
property_value: exactMatch DOID:6943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1520084
property_value: exactMatch NCIT:C40291

[Term]
id: MONDO:0006622
name: vulvar seborrheic keratosis
def: "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." [NCIT:P378]
synonym: "mammalian vulva seborrheic keratosis" EXACT [MONDO:patterns/location]
synonym: "seborrheic keratosis of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "seborrheic keratosis of the vulva" EXACT [NCIT:C6375]
synonym: "seborrheic keratosis of vulva" EXACT [DOID:6944, NCIT:C6375]
xref: DOID:6944 {source="MONDO:equivalentTo", source="EFO:1000779"}
xref: EFO:1000779 {source="MONDO:equivalentTo"}
xref: NCIT:C6375 {source="MONDO:equivalentTo", source="DOID:6944", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: UMLS:C1336981 {source="NCIT:C6375", source="MONDO:equivalentTo", source="DOID:6944"}
is_a: MONDO:0002195 {source="DOID:6944", source="NCIT:C6375"} ! vulvar squamous neoplasm
is_a: MONDO:0002656 ! skin carcinoma
is_a: MONDO:0005215 ! vulvar carcinoma
is_a: MONDO:0008420 {source="DOID:6944", source="EFO:1000779", source="MONDO:Redundant", source="MONDOLEX:0006622", source="NCIT:C6375"} ! seborrheic keratosis
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch DOID:6944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336981
property_value: exactMatch NCIT:C6375

[Term]
id: MONDO:0006623
name: obsolete autoimmune pancreatitis type 1
is_obsolete: true
replaced_by: MONDO:0017227

[Term]
id: MONDO:0006624
name: overactive bladder (disease)
def: "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." [MESH:D053201]
synonym: "overactive bladder" EXACT [MONDO:ambiguous]
xref: EFO:1000781 {source="MONDO:equivalentTo"}
xref: HP:0000012 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:596.51 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10020853 {source="EFO:1000781"}
xref: MESH:D053201 {source="EFO:1000781", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:236633002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0006026 {source="EFO:1000781", source="MESH:D053201", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/meddra/10020853
property_value: exactMatch http://identifiers.org/mesh/D053201
property_value: exactMatch http://identifiers.org/snomedct/236633002

[Term]
id: MONDO:0006625
name: altitude sickness
def: "Multiple symptoms associated with reduced oxygen at high altitude." [MESH:D000532]
xref: EFO:1000782 {source="MONDO:equivalentTo"}
xref: ICD10:T70.2 {source="EFO:1000782"}
xref: MESH:D000532 {source="EFO:1000782", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Wikipedia:Altitude_sickness {source="EFO:1000782"}
is_a: MONDO:0005087 {source="https://github.com/monarch-initiative/mondo/issues/1013"} ! respiratory system disease
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:1000782"} ! cardiovascular disease
property_value: exactMatch http://identifiers.org/mesh/D000532

[Term]
id: MONDO:0006626
name: diabetic neuropathy
def: "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction." [NCIT:P378]
xref: DOID:9743 {source="MONDO:equivalentTo"}
xref: EFO:1000783 {source="MONDO:equivalentTo"}
xref: ICD9:250.6 {source="DOID:9743"}
xref: MESH:D003929 {source="DOID:9743", source="MONDO:equivalentTo", source="EFO:1000783"}
xref: NCIT:C26748 {source="DOID:9743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:230572002 {source="DOID:9743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0011882 {source="DOID:9743", source="MONDO:equivalentTo", source="NCIT:C26748"}
is_a: MONDO:0005244 {source="DOID:9743", source="EFO:1000783", source="EFO:1000783/inferred", source="MONDO:Redundant", source="MONDOLEX:0006626", source="NCIT:C26748", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
relationship: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease)
property_value: closeMatch http://identifiers.org/snomedct/154683002
property_value: closeMatch http://identifiers.org/snomedct/190349003
property_value: closeMatch http://identifiers.org/snomedct/190353001
property_value: closeMatch http://identifiers.org/snomedct/193182005
property_value: closeMatch http://identifiers.org/snomedct/267472008
property_value: closeMatch http://identifiers.org/snomedct/866003
property_value: exactMatch DOID:9743
property_value: exactMatch http://identifiers.org/mesh/D003929
property_value: exactMatch http://identifiers.org/snomedct/230572002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011882
property_value: exactMatch NCIT:C26748

[Term]
id: MONDO:0006627
name: obsolete microscopic polyangiitis
is_obsolete: true
replaced_by: MONDO:0019124

[Term]
id: MONDO:0006628
name: obsolete Sezary disease
synonym: "obsolete Sezary's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0017844

[Term]
id: MONDO:0006629
name: osteoarthritis, hip
def: "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." [MESH:D015207]
synonym: "hip osteoarthritis" EXACT [NCIT:C34876]
xref: COHD:4079749 {source="MONDO:equivalentTo"}
xref: EFO:1000786 {source="MONDO:equivalentTo"}
xref: MESH:D015207 {source="MONDO:equivalentTo", source="EFO:1000786"}
xref: NCIT:C34876 {source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="EFO:1000786", source="MESH:D015207", source="MONDOLEX:0006629", source="NCIT:C34876"} ! osteoarthritis
property_value: exactMatch http://identifiers.org/mesh/D015207
property_value: exactMatch NCIT:C34876

[Term]
id: MONDO:0006630
name: osteoarthritis, spine
def: "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." [MESH:D055013]
xref: EFO:1000787 {source="MONDO:equivalentTo"}
xref: MESH:D055013 {source="MONDO:equivalentTo", source="EFO:1000787", source="MONDO:ontobio"}
xref: SCTID:8847002 {source="MONDO:kboom-pr-0.67/0.30/0.13", source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="EFO:1000787", source="MESH:D055013", source="MONDOLEX:0006630"} ! osteoarthritis
property_value: exactMatch http://identifiers.org/mesh/D055013
property_value: exactMatch http://identifiers.org/snomedct/8847002

[Term]
id: MONDO:0006631
name: osteoarthritis, toe
def: "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle." [EFO:1000788]
xref: EFO:1000788 {source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="EFO:1000788", source="MONDOLEX:0006631"} ! osteoarthritis

[Term]
id: MONDO:0006632
name: osteoarthritis, hand
def: "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." [EFO:1000789]
xref: EFO:1000789 {source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="EFO:1000789", source="MONDOLEX:0006632"} ! osteoarthritis

[Term]
id: MONDO:0006633
name: acalculous cholecystitis
def: "Inflammation of the gallbladder in the absence of gallstones." [NCIT:P378]
synonym: "acute acalculous cholecystitis" NARROW [DOID:2828]
synonym: "acute cholecystitis without calculus" EXACT [DOID:2828]
synonym: "cholecystitis without calculus" EXACT [DOID:2828]
xref: DOID:2828 {source="EFO:1000790", source="MONDO:equivalentTo"}
xref: EFO:1000790 {source="MONDO:equivalentTo"}
xref: MedDRA:10000347 {source="EFO:1000790"}
xref: MESH:D042101 {source="EFO:1000790", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2828"}
xref: NCIT:C35578 {source="EFO:1000790", source="MONDO:equivalentTo", source="DOID:2828"}
xref: SCTID:19968009 {source="MONDO:equivalentTo", source="DOID:2828", source="MONDO:kboom-pr-0.98/0.74/3.46"}
xref: UMLS:C0267841 {source="MONDO:equivalentTo", source="NCIT:C35578", source="DOID:2828"}
xref: UMLS:C0267842 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002155 {source="DOID:2828", source="MESH:D042101", source="NCIT:C35578"} ! cholecystitis
is_a: MONDO:0006032 {source="EFO:1000790"} ! cystitis
property_value: closeMatch http://identifiers.org/meddra/10000347
property_value: exactMatch DOID:2828
property_value: exactMatch http://identifiers.org/mesh/D042101
property_value: exactMatch http://identifiers.org/snomedct/19968009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267842
property_value: exactMatch NCIT:C35578

[Term]
id: MONDO:0006634
name: pituitary gland acidophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." [NCIT:C6780]
synonym: "acidophil adenoma" EXACT [DOID:5392, NCIT:C6780]
synonym: "eosinophil adenoma" EXACT [DOID:5392, NCIT:C6780]
synonym: "pituitary gland acidophil adenoma" EXACT [NCIT:C6780]
xref: DOID:5392 {source="EFO:1000791", source="MONDO:equivalentTo"}
xref: EFO:1000791 {source="MONDO:equivalentTo"}
xref: ICDO:8280/0 {source="NCIT:C6780"}
xref: MESH:D000239 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392", source="MONDO:ontobio"}
xref: NCIT:C6780 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0001433 {source="NCIT:C6780", source="MONDO:equivalentTo", source="DOID:5392"}
is_a: MONDO:0006373 {source="DOID:5392", source="EFO:1000791"} ! pituitary gland adenoma
relationship: excluded_subClassOf MONDO:0004805 {source="DOID:5392"} ! leukocyte disease
property_value: closeMatch http://identifiers.org/snomedct/21109002
property_value: exactMatch DOID:5392
property_value: exactMatch http://identifiers.org/mesh/D000239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001433
property_value: exactMatch NCIT:C6780

[Term]
id: MONDO:0006635
name: Acinetobacter infectious disease
def: "Infections with bacteria of the genus acinetobacter." [MESH:D000151]
synonym: "Acinetobacter caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acinetobacter disease or disorder" EXACT []
synonym: "Acinetobacter infection" RELATED [MESH:D000151]
synonym: "infection, Acinetobacter" RELATED [MESH:D000151]
synonym: "infection, Mimae" RELATED [MESH:D000151]
synonym: "infections, Acinetobacter" RELATED [MESH:D000151]
synonym: "infections, Mimae" RELATED [MESH:D000151]
synonym: "Mimae infection" RELATED [MESH:D000151]
synonym: "Mimae infections" RELATED [MESH:D000151]
xref: EFO:1000792 {source="MONDO:equivalentTo"}
xref: MESH:D000151 {source="EFO:1000792", source="MONDO:equivalentTo"}
xref: UMLS:C0001139 {source="MONDO:equivalentTo"}
is_a: MONDO:0006878 ! Moraxellaceae infectious disease
property_value: closeMatch DOID:3091
property_value: exactMatch http://identifiers.org/mesh/D000151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001139

[Term]
id: MONDO:0006636
name: Actinobacillus infectious disease
def: "Infections with bacteria of the genus actinobacillus." [MESH:D000189]
synonym: "Actinobacillus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Actinobacillus disease or disorder" EXACT []
synonym: "Actinobacillus infection" RELATED [MESH:D000189]
synonym: "infection, Actinobacillus" RELATED [MESH:D000189]
synonym: "infections, Actinobacillus" RELATED [MESH:D000189]
xref: EFO:1000793 {source="MONDO:equivalentTo"}
xref: MESH:D000189 {source="EFO:1000793", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1000793", source="MESH:D000189/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
property_value: closeMatch DOID:4975
property_value: exactMatch http://identifiers.org/mesh/D000189

[Term]
id: MONDO:0006637
name: acute kidney tubular necrosis
def: "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." [NCIT:P378]
synonym: "acute renal failure with lesion of tubular necrosis" EXACT [DOID:12556, ICD9CM_2006:584.5]
synonym: "acute renal failure with tubular necrosis" EXACT [DOID:12556, NCIT:C34749]
synonym: "acute tubular necrosis" EXACT [DOID:12556]
synonym: "acute tubule necrosis" EXACT [DOID:12556]
synonym: "ATN - acute tubular necrosis" EXACT [DOID:12556]
xref: COHD:444044 {source="MONDO:equivalentTo"}
xref: DOID:12556 {source="MONDO:equivalentTo", source="EFO:1000794"}
xref: EFO:1000794 {source="MONDO:equivalentTo"}
xref: HP:0008682 {source="MONDO:otherHierarchy"}
xref: ICD10:N17.0 {source="DOID:12556", source="EFO:1000794"}
xref: ICD9:584.5 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10023441 {source="EFO:1000794"}
xref: MESH:D007683 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794", source="MONDO:ontobio"}
xref: NCIT:C34749 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:35455006 {source="DOID:12556", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022672 {source="NCIT:C34749", source="DOID:12556", source="MONDO:equivalentTo"}
is_a: MONDO:0002492 {source="DOID:12556", source="MESH:D007683", source="MONDOLEX:0006637", source="NCIT:C34749"} ! acute kidney failure
property_value: closeMatch http://identifiers.org/meddra/10023441
property_value: closeMatch http://identifiers.org/snomedct/197649009
property_value: exactMatch DOID:12556
property_value: exactMatch http://identifiers.org/mesh/D007683
property_value: exactMatch http://identifiers.org/snomedct/35455006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022672
property_value: exactMatch NCIT:C34749

[Term]
id: MONDO:0006638
name: acute retinal necrosis syndrome
def: "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." [MESH:D015882]
synonym: "acute retinal necrosis" EXACT [DOID:3611]
xref: DOID:3611 {source="EFO:1000795", source="MONDO:equivalentTo"}
xref: EFO:1000795 {source="MONDO:equivalentTo"}
xref: MESH:D015882 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611", source="MONDO:ontobio"}
xref: SCTID:231986000 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035319 {source="MONDO:equivalentTo", source="DOID:3611"}
is_a: MONDO:0002708 {source="DOID:3611", source="MESH:D015882", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinitis
property_value: exactMatch DOID:3611
property_value: exactMatch http://identifiers.org/mesh/D015882
property_value: exactMatch http://identifiers.org/snomedct/231986000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035319

[Term]
id: MONDO:0006639
name: adrenal cortex carcinoma
def: "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325]
subset: ordo_disease {source="Orphanet:1501"}
synonym: "ACC" RELATED [ONCOTREE:ACC]
synonym: "adenocarcinoma, adrenocortical, malignant" EXACT [NCIT:C9325]
synonym: "adrenal cortex adenocarcinoma" EXACT [DOID:3959, NCIT:C9325, NCIT:C9326]
synonym: "adrenal cortex cancer" EXACT [NCIT:C9325]
synonym: "adrenal cortex carcinoma" EXACT [MONDO:patterns/location, NCIT:C9325]
synonym: "adrenal cortical adenocarcinoma" EXACT [DOID:3959, MONDO:0002818, NCIT:C9325]
synonym: "adrenal cortical carcinoma" EXACT [NCIT:C9325]
synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [DOID:3948]
synonym: "adrenal cortical tumors" EXACT [DOID:660]
synonym: "adrenocortical cancer" EXACT [NCIT:C9325]
synonym: "adrenocortical carcinoma" EXACT [MONDO:0015460, MONDO:ambiguous, NCIT:C9325]
synonym: "adrenocortical carcinoma (disease)" EXACT [MONDO:0005241]
synonym: "adrenocortical carcinoma, NOS" RELATED EXCLUDE [NCIT:C9325]
synonym: "cancer of the adrenal cortex" EXACT [NCIT:C9325]
synonym: "carcinoma of adrenal cortex" EXACT [MONDO:patterns/carcinoma, NCIT:C9325]
synonym: "carcinoma of the adrenal cortex" EXACT [DOID:3948, NCIT:C9325]
synonym: "carcinoma, adrenocortical, malignant" EXACT [NCIT:C9325]
synonym: "cortical cell carcinoma" EXACT [NCIT:C9325]
synonym: "malignant adrenocortical tumor" EXACT [DOID:660, NCIT:C9327]
synonym: "malignant neoplasm of adrenal cortex" EXACT [DOID:660]
synonym: "malignant tumour of adrenal cortex" EXACT [DOID:660]
synonym: "neoplasm of adrenal cortex" EXACT EXCLUDE [DOID:660]
xref: DOID:3948 {source="MONDO:equivalentTo", source="EFO:0003093"}
xref: DOID:3959 {source="MONDO:equivalentTo"}
xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"}
xref: EFO:1000796 {source="MONDO:equivalentTo"}
xref: GARD:0000558 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0006744 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C74.0 {source="Orphanet:1501", source="ORDO:1501/e", source="DOID:660"}
xref: ICDO:8370/3 {source="NCIT:C9325"}
xref: MedDRA:10001388 {source="Orphanet:1501", source="ORDO:1501/e"}
xref: NCIT:C9325 {source="MONDO:kboom-pr-0.89/0.76/0.26", source="MONDO:equivalentTo", source="EFO:1000796", source="EFO:0003093", source="DOID:3948"}
xref: ONCOTREE:ACC {source="MONDO:equivalentTo"}
xref: Orphanet:1501 {source="MONDO:equivalentTo"}
xref: SCTID:255035007 {source="MONDO:equivalentTo", source="DOID:3948"}
xref: UMLS:C0206686 {source="NCIT:C9325", source="MONDO:equivalentTo", source="Orphanet:1501", source="ORDO:1501/e", source="DOID:3948"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002814 ! adrenal carcinoma
is_a: MONDO:0005086 ! renal cell carcinoma (disease)
is_a: MONDO:0015077 {source="Orphanet:1501"} ! adrenal/paraganglial tumor
is_a: MONDO:0019748 {source="Orphanet:1501"} ! rare cause of hypertension
is_a: MONDO:0021312 {source="MONDO:Redundant", source="MONDOLEX:0006639", source="NCIT:C9325", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of adrenal cortex
relationship: excluded_subClassOf MONDO:0018627 {source="Orphanet:1501"} ! ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
property_value: closeMatch http://identifiers.org/mesh/D000306
property_value: closeMatch http://identifiers.org/snomedct/127022002
property_value: closeMatch http://identifiers.org/snomedct/18365006
property_value: closeMatch http://identifiers.org/snomedct/189645007
property_value: closeMatch http://identifiers.org/snomedct/189648009
property_value: closeMatch http://identifiers.org/snomedct/2227007
property_value: closeMatch http://identifiers.org/snomedct/363479004
property_value: closeMatch http://identifiers.org/snomedct/93664009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001618
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346402
property_value: exactMatch DOID:3948
property_value: exactMatch DOID:3959
property_value: exactMatch DOID:660
property_value: exactMatch http://identifiers.org/meddra/10001388
property_value: exactMatch http://identifiers.org/mesh/D018268
property_value: exactMatch http://identifiers.org/snomedct/255035007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206686
property_value: exactMatch NCIT:C9325
property_value: exactMatch Orphanet:1501

[Term]
id: MONDO:0006640
name: adrenal gland hyperfunction
def: "Excess production of adrenal cortex hormones." [MESH:D000308]
comment: Editor note: consider obsoleting as is phenotypic feature
synonym: "adrenal gland hyperfunction" EXACT [MESH:D000308]
synonym: "adrenocortical hyperfunction" EXACT [DOID:3947]
synonym: "disorder of corticoadrenal overactivity" RELATED []
synonym: "hyperadrenalism" EXACT [CSP2005:0060-4042, DOID:3947]
synonym: "hyperadrenalism" RELATED [MESH:D000308]
synonym: "hyperadrenocorticism" RELATED [MESH:D000308]
synonym: "hypercorticism" RELATED [MESH:D000308]
synonym: "hypercortisolemia" EXACT [NCIT:C113208]
synonym: "hypercortisolism" EXACT [CSP2005:4006-0047, DOID:3947]
synonym: "hyperfunction, adrenal gland" RELATED [MESH:D000308]
synonym: "hyperfunction, adrenocortical" RELATED [MESH:D000308]
xref: DOID:3947 {source="MONDO:equivalentTo", source="EFO:1000797"}
xref: EFO:1000797 {source="MONDO:equivalentTo"}
xref: GARD:0008252 {source="MONDO:equivalentTo"}
xref: HP:0003118 {source="MONDO:otherHierarchy"}
xref: ICD9:255.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000308 {source="MONDO:equivalentTo", source="EFO:1000797", source="DOID:3947"}
xref: SCTID:275437005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.08", source="DOID:3947"}
xref: UMLS:C0001622 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="DOID:3947"}
xref: UMLS:CN205287 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002816 {source="DOID:3947", source="linkedlifedata"} ! adrenal cortex disease
property_value: closeMatch http://identifiers.org/snomedct/111561007
property_value: closeMatch http://identifiers.org/snomedct/190520005
property_value: closeMatch http://identifiers.org/snomedct/47270006
property_value: exactMatch DOID:3947
property_value: exactMatch http://identifiers.org/mesh/D000308
property_value: exactMatch http://identifiers.org/snomedct/275437005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205287
property_value: exactMatch NCIT:C113208

[Term]
id: MONDO:0006641
name: afferent loop syndrome
def: "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." [MESH:D000343]
xref: DOID:8438 {source="MONDO:equivalentTo", source="EFO:1000799"}
xref: EFO:1000799 {source="MONDO:equivalentTo"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056245 {source="EFO:1000799"}
xref: MESH:D000343 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799", source="MONDO:ontobio"}
xref: SCTID:20813000 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0001727 {source="DOID:8438", source="MONDO:equivalentTo"}
is_a: MONDO:0004566 {source="DOID:8438", source="linkedlifedata"} ! postgastrectomy syndrome
property_value: closeMatch http://identifiers.org/meddra/10056245
property_value: exactMatch DOID:8438
property_value: exactMatch http://identifiers.org/mesh/D000343
property_value: exactMatch http://identifiers.org/snomedct/20813000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001727

[Term]
id: MONDO:0006642
name: alcohol withdrawal delirium
def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [MESH:D000430]
synonym: "alcohol withdrawal associated autonomic hyperactivity" RELATED [MESH:D000430]
synonym: "alcohol withdrawal hallucinosis" RELATED [MESH:D000430]
synonym: "alcohol withdrawal induced delirium Tremens" RELATED [MESH:D000430]
synonym: "alcohol withdrawal-induced delirium Tremens" RELATED [MESH:D000430]
synonym: "autonomic hyperactivity, alcohol withdrawal associated" RELATED [MESH:D000430]
synonym: "delirium Tremens" RELATED DEPRECATED [MESH:D000430]
synonym: "delirium Tremens, alcohol withdrawal induced" RELATED DEPRECATED [MESH:D000430]
synonym: "delirium, alcohol withdrawal" RELATED DEPRECATED [MESH:D000430]
synonym: "hallucinosis, alcohol withdrawal" RELATED [MESH:D000430]
xref: COHD:377830 {source="MONDO:equivalentTo"}
xref: EFO:1000800 {source="MONDO:equivalentTo"}
xref: ICD9:291.0 {source="MONDO:equivalentTo", source="i2s", source="EFO:1000800"}
xref: MedDRA:10001610 {source="EFO:1000800"}
xref: MESH:D000430 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000800"}
xref: SCTID:8635005 {source="MONDO:equivalentTo", source="EFO:1000800", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005433 {source="MONDO:cjm", source="MONDOLEX:0006642", source="linkedlifedata"} ! alcohol withdrawal
is_a: MONDO:0007079 ! alcohol dependence
property_value: closeMatch DOID:8639
property_value: closeMatch http://identifiers.org/meddra/10001610
property_value: exactMatch http://identifiers.org/mesh/D000430
property_value: exactMatch http://identifiers.org/snomedct/8635005

[Term]
id: MONDO:0006643
name: alcoholic cardiomyopathy
def: "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." [NCIT:P378]
synonym: "alcohol-induced heart muscle disease" EXACT [DOID:12935]
synonym: "alcoholic cardiomyopathy" EXACT [DOID:12935, ICD9CM_2006:425.5]
synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [DOID:12935]
xref: DOID:12935 {source="MONDO:equivalentTo", source="EFO:1000801"}
xref: EFO:1000801 {source="MONDO:equivalentTo"}
xref: ICD10:I42.6 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"}
xref: ICD9:425.5 {source="DOID:12935", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10001616 {source="EFO:1000801"}
xref: MESH:D002310 {source="DOID:12935", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000801"}
xref: NCIT:C53653 {source="DOID:12935", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000801"}
xref: SCTID:83521008 {source="DOID:12935", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.58", source="EFO:1000801"}
xref: UMLS:C0007192 {source="DOID:12935", source="MONDO:equivalentTo", source="NCIT:C53653"}
is_a: MONDO:0002824 {source="DOID:12935", source="linkedlifedata/inferred"} ! extrinsic cardiomyopathy
is_a: MONDO:0021699 {source="MESH:D002310", source="MONDO:Entailed"} ! alcohol-induced disorders
property_value: closeMatch http://identifiers.org/meddra/10001616
property_value: closeMatch http://identifiers.org/snomedct/155352001
property_value: exactMatch DOID:12935
property_value: exactMatch http://identifiers.org/mesh/D002310
property_value: exactMatch http://identifiers.org/snomedct/83521008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007192
property_value: exactMatch NCIT:C53653

[Term]
id: MONDO:0006644
name: alcoholic liver cirrhosis
def: "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." [NCIT:P378]
synonym: "alcoholic cirrhosis" EXACT [DOID:14018, NCIT:C34782]
synonym: "alcoholic cirrhosis of liver" EXACT [DOID:14018, ICD9CM_2006:571.2]
synonym: "Laennec's cirrhosis" EXACT [DOID:14018]
synonym: "Laennec's cirrhosis, alcoholic" EXACT [DOID:14018, MTHICD9_2006:571.2]
synonym: "portal cirrhosis" EXACT [DOID:14018]
xref: COHD:196463 {source="MONDO:equivalentTo"}
xref: CSP:1754-7677 {source="DOID:14018"}
xref: DOID:14018 {source="MONDO:equivalentTo", source="EFO:1000802"}
xref: EFO:1000802 {source="MONDO:equivalentTo"}
xref: ICD10:K70.3 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"}
xref: ICD9:571.2 {source="DOID:14018"}
xref: MedDRA:10001618 {source="EFO:1000802"}
xref: MESH:D008104 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14018", source="EFO:1000802"}
xref: NCIT:C34782 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"}
xref: SCTID:419728003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.21"}
xref: UMLS:C0023891 {source="MONDO:equivalentTo", source="DOID:14018"}
xref: UMLS:C1622502 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005155 {source="DOID:14018", source="EFO:1000802", source="MESH:D008104", source="MONDO:Redundant", source="NCIT:C34782", source="linkedlifedata"} ! cirrhosis of liver
is_a: MONDO:0043693 ! alcoholic liver diseases
property_value: closeMatch http://identifiers.org/meddra/10001618
property_value: closeMatch http://identifiers.org/snomedct/155811002
property_value: closeMatch http://identifiers.org/snomedct/197280008
property_value: closeMatch http://identifiers.org/snomedct/235894003
property_value: closeMatch http://identifiers.org/snomedct/266467008
property_value: closeMatch http://identifiers.org/snomedct/420054005
property_value: closeMatch http://identifiers.org/snomedct/75393009
property_value: exactMatch DOID:14018
property_value: exactMatch http://identifiers.org/mesh/D008104
property_value: exactMatch http://identifiers.org/snomedct/419728003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1622502
property_value: exactMatch NCIT:C34782

[Term]
id: MONDO:0006645
name: alcoholic polyneuropathy
def: "Any disease affecting more than one nerve." []
synonym: "alcohol-related polyneuropathy" EXACT [DOID:14183]
synonym: "alcoholic neuropathy" EXACT [DOID:14183]
xref: COHD:378421 {source="MONDO:equivalentTo"}
xref: DOID:14183 {source="MONDO:equivalentTo", source="EFO:1000803"}
xref: EFO:1000803 {source="MONDO:equivalentTo"}
xref: ICD10:G62.1 {source="DOID:14183", source="MONDO:equivalentTo"}
xref: ICD9:357.5 {source="DOID:14183", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020269 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000803"}
xref: NCIT:C26926 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:7916009 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0085677 {source="DOID:14183", source="MONDO:equivalentTo", source="NCIT:C26926"}
is_a: MONDO:0001824 ! polyneuropathy
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14183"} ! inflammatory and toxic neuropathy
property_value: closeMatch http://identifiers.org/snomedct/123050003
property_value: closeMatch http://identifiers.org/snomedct/155083006
property_value: exactMatch DOID:14183
property_value: exactMatch http://identifiers.org/mesh/D020269
property_value: exactMatch http://identifiers.org/snomedct/7916009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085677
property_value: exactMatch NCIT:C26926

[Term]
id: MONDO:0006646
name: angioleiomyoma
def: "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." [NCIT:C3747]
synonym: "angioleiomyoma" EXACT [MONDO:0006084, NCIT:C3747]
synonym: "angiomyoma" EXACT [NCIT:C3747]
synonym: "angiomyoma (morphologic abnormality)" EXACT [DOID:4265]
synonym: "vascular leiomyoma" EXACT [DOID:4265, NCIT:C3747]
xref: DOID:4265 {source="EFO:1000806", source="MONDO:equivalentTo"}
xref: EFO:1000084 {source="MONDO:equivalentTo"}
xref: EFO:1000806 {source="MONDO:equivalentTo"}
xref: ICDO:8894/0 {source="NCIT:C3747"}
xref: MESH:D018229 {source="DOID:4265", source="EFO:1000806", source="MONDO:equivalentTo"}
xref: NCIT:C3747 {source="DOID:4265", source="EFO:1000084", source="MONDO:kboom-pr-0.92/0.84/0.08", source="EFO:1000806", source="MONDO:equivalentTo"}
xref: UMLS:C0206653 {source="DOID:4265", source="MONDO:equivalentTo", source="NCIT:C3747"}
is_a: MONDO:0003342 {source="NCIT:C3747"} ! benign perivascular tumor
relationship: excluded_subClassOf MONDO:0001572 {source="DOID:4265"} ! leiomyoma
property_value: closeMatch http://identifiers.org/snomedct/86959002
property_value: exactMatch DOID:4265
property_value: exactMatch http://identifiers.org/mesh/D018229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206653
property_value: exactMatch NCIT:C3747

[Term]
id: MONDO:0006647
name: anterior cerebral artery infarction
def: "necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [MESH:D020243]
xref: DOID:3528 {source="EFO:1000807", source="MONDO:equivalentTo"}
xref: EFO:1000807 {source="MONDO:equivalentTo"}
xref: MESH:D020243 {source="EFO:1000807", source="MONDO:equivalentTo", source="DOID:3528", source="MONDO:ontobio"}
xref: UMLS:C0751843 {source="MONDO:equivalentTo", source="DOID:3528"}
is_a: MONDO:0002679 {source="DOID:3528", source="MESH:D020243"} ! cerebral infarction
property_value: exactMatch DOID:3528
property_value: exactMatch http://identifiers.org/mesh/D020243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751843

[Term]
id: MONDO:0006648
name: anterior compartment syndrome
def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." [MESH:D000868]
synonym: "anterior compartment syndrome" EXACT [DOID:3933]
xref: DOID:3933 {source="EFO:1000808", source="MONDO:equivalentTo"}
xref: EFO:1000808 {source="MONDO:equivalentTo"}
xref: ICD10:M76.81 {source="DOID:3933"}
xref: MESH:D000868 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933", source="MONDO:ontobio"}
xref: SCTID:12694001 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933"}
xref: UMLS:C0003152 {source="MONDO:equivalentTo", source="DOID:3933"}
is_a: MONDO:0004001 {source="DOID:3933", source="MESH:D000868", source="MONDOLEX:0006648", source="linkedlifedata", source="linkedlifedata/inferred"} ! compartment syndrome
is_a: MONDO:0005218 {source="EFO:1000808", source="MESH:D000868/inferred"} ! muscular disease
property_value: closeMatch http://identifiers.org/snomedct/157669006
property_value: closeMatch http://identifiers.org/snomedct/212379008
property_value: closeMatch http://identifiers.org/snomedct/269407005
property_value: exactMatch DOID:3933
property_value: exactMatch http://identifiers.org/mesh/D000868
property_value: exactMatch http://identifiers.org/snomedct/12694001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003152

[Term]
id: MONDO:0006649
name: anterior ischemic optic neuropathy
def: "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids . Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." [https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy]
subset: gard_rare {source="GARD:0009790"}
synonym: "aion" RELATED [GARD:0009790]
synonym: "ischemic optic neuropathy" EXACT [DOID:12010, ICD9CM_2006:377.41]
synonym: "optic disc infarction leading to vision loss" RELATED []
xref: COHD:373487 {source="MONDO:equivalentTo"}
xref: DOID:12010 {source="EFO:1000809", source="MONDO:equivalentTo"}
xref: EFO:1000809 {source="MONDO:equivalentTo"}
xref: GARD:0009790 {source="MONDO:equivalentTo"}
xref: ICD10:H47.01 {source="DOID:12010"}
xref: ICD9:377.41 {source="DOID:12010"}
xref: MedDRA:10068250 {source="EFO:1000809"}
xref: MESH:D018917 {source="EFO:1000809", source="MONDO:equivalentTo", source="DOID:12010", source="MONDO:ontobio"}
xref: SCTID:404659001 {source="EFO:1000809", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:C0155305 {source="MONDO:equivalentTo", source="DOID:12010"}
is_a: MONDO:0002135 {source="DOID:12010", source="MESH:D018917", source="MONDOLEX:0006649", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease
property_value: closeMatch http://identifiers.org/meddra/10068250
property_value: closeMatch http://identifiers.org/snomedct/14357004
property_value: exactMatch DOID:12010
property_value: exactMatch http://identifiers.org/mesh/D018917
property_value: exactMatch http://identifiers.org/snomedct/404659001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155305
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy xsd:anyURI {source="GARD:0009790"}

[Term]
id: MONDO:0006650
name: anterior spinal artery syndrome
def: "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" [MESH:D020759]
synonym: "anterior spinal artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of anterior spinal artery" EXACT []
xref: DOID:6712 {source="MONDO:equivalentTo", source="EFO:1000810"}
xref: EFO:1000810 {source="MONDO:equivalentTo"}
xref: ICD9:433.80 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10002703 {source="EFO:1000810"}
xref: MESH:D020759 {source="DOID:6712", source="MONDO:equivalentTo", source="EFO:1000810", source="MONDO:ontobio"}
xref: SCTID:2972007 {source="DOID:6712", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0221069 {source="DOID:6712", source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0002254 ! syndromic disease
property_value: closeMatch http://identifiers.org/meddra/10002703
property_value: closeMatch http://identifiers.org/snomedct/14363008
property_value: exactMatch DOID:6712
property_value: exactMatch http://identifiers.org/mesh/D020759
property_value: exactMatch http://identifiers.org/snomedct/2972007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221069

[Term]
id: MONDO:0006651
name: anterior uveitis (disease)
def: "Inflammation of the iris and anterior chamber of the eye." [NCIT:C35109]
subset: ordo_group_of_disorders {source="Orphanet:280886"}
synonym: "anterior uveitis" EXACT [MONDO:0017253, MONDO:ambiguous, NCIT:C35109]
synonym: "iridocyclitis" NARROW [Orphanet:280886]
xref: CSP:1114-9593 {source="DOID:1407"}
xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"}
xref: EFO:1000811 {source="MONDO:equivalentTo"}
xref: GARD:0010941 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0012122 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H20.0 {source="ORDO:280886/btnt", source="Orphanet:280886"}
xref: ICD10:H20.1 {source="ORDO:280886/btnt", source="Orphanet:280886"}
xref: ICD10:H20.2 {source="ORDO:280886/btnt", source="Orphanet:280886"}
xref: ICD10:H20.8 {source="ORDO:280886/btnt", source="Orphanet:280886"}
xref: ICD10:H20.9 {source="ORDO:280886/btnt", source="Orphanet:280886"}
xref: MedDRA:10002709 {source="ORDO:280886/e", source="EFO:1000811", source="Orphanet:280886"}
xref: NCIT:C35109 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811", source="NCIT:C35109"}
xref: Orphanet:280886 {source="MONDO:equivalentTo"}
xref: SCTID:410692006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.79", source="DOID:1407", source="EFO:1000811"}
xref: UMLS:C0042165 {source="MONDO:equivalentTo", source="DOID:1407", source="ORDO:280886/e", source="NCIT:C35109", source="Orphanet:280886"}
is_a: MONDO:0020283 {source="DOID:1407/inferred", source="NCIT:C35109", source="Orphanet:280886", source="linkedlifedata"} ! uveitis (disease)
property_value: closeMatch http://identifiers.org/mesh/D014606
property_value: closeMatch http://identifiers.org/snomedct/193500005
property_value: closeMatch http://identifiers.org/snomedct/231946008
property_value: exactMatch DOID:1407
property_value: exactMatch http://identifiers.org/meddra/10002709
property_value: exactMatch http://identifiers.org/snomedct/410692006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042165
property_value: exactMatch NCIT:C35109
property_value: exactMatch Orphanet:280886

[Term]
id: MONDO:0006652
name: anterolateral myocardial infarction
def: "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [MESH:D056988]
comment: Editor note: todo - create uberon class
synonym: "acute anterior wall myocardial infarction" RELATED [MESH:D056988]
synonym: "anterolateral myocardial infarction" EXACT [MESH:D056988]
synonym: "anterolateral myocardial infarctions" RELATED [MESH:D056988]
synonym: "anteroseptal myocardial infarction" RELATED [MESH:D056988]
synonym: "anteroseptal myocardial infarctions" RELATED [MESH:D056988]
synonym: "infarction, anterolateral myocardial" RELATED [MESH:D056988]
synonym: "infarction, anteroseptal myocardial" RELATED [MESH:D056988]
synonym: "infarctions, anterolateral myocardial" RELATED [MESH:D056988]
synonym: "infarctions, anteroseptal myocardial" RELATED [MESH:D056988]
synonym: "myocardial infarction, anterior wall" RELATED [MESH:D056988]
synonym: "myocardial infarction, anterolateral" RELATED [MESH:D056988]
synonym: "myocardial infarction, anteroseptal" RELATED [MESH:D056988]
synonym: "myocardial infarctions, anterolateral" RELATED [MESH:D056988]
synonym: "myocardial infarctions, anteroseptal" RELATED [MESH:D056988]
xref: DOID:5845 {source="MONDO:equivalentTo", source="EFO:1000812"}
xref: EFO:1000812 {source="MONDO:equivalentTo"}
xref: MedDRA:10068109 {source="EFO:1000812"}
xref: MESH:D056988 {source="DOID:5845", source="MONDO:equivalentTo", source="EFO:1000812"}
xref: UMLS:C0262564 {source="DOID:5845", source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5845", source="EFO:1000812", source="MESH:D056988"} ! myocardial infarction (disease)
property_value: closeMatch http://identifiers.org/meddra/10068109
property_value: exactMatch DOID:5845
property_value: exactMatch http://identifiers.org/mesh/D056988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262564

[Term]
id: MONDO:0006653
name: anthracosilicosis
def: "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." [NCIT:P378]
xref: CSP:2596-4484 {source="DOID:10324"}
xref: DOID:10324 {source="MONDO:equivalentTo", source="EFO:1000813"}
xref: EFO:1000813 {source="MONDO:equivalentTo"}
xref: ICD10:J60 {source="DOID:10324"}
xref: MedDRA:10050363 {source="EFO:1000813"}
xref: MESH:D000874 {source="DOID:10324", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000813"}
xref: NCIT:C34389 {source="DOID:10324", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000813"}
xref: SCTID:33548005 {source="DOID:10324", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000813"}
xref: UMLS:C0003164 {source="DOID:10324", source="MONDO:equivalentTo", source="NCIT:C34389"}
is_a: MONDO:0015926 {source="DOID:10324", source="EFO:1000813", source="MESH:D000874/inferred", source="NCIT:C34389", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/meddra/10050363
property_value: exactMatch DOID:10324
property_value: exactMatch http://identifiers.org/mesh/D000874
property_value: exactMatch http://identifiers.org/snomedct/33548005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003164
property_value: exactMatch NCIT:C34389

[Term]
id: MONDO:0006654
name: anthracosis
def: "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." [NCIT:P378]
synonym: "black lung" EXACT [CSP2005:2596-4484, DOID:10327]
synonym: "coal dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "coal miner's pneumoconiosis" EXACT [DOID:10327, NCIT:C34390]
synonym: "coal workers' lung" EXACT [DOID:10327, MTHICD9_2006:500]
synonym: "coal workers' pneumoconiosis" EXACT [DOID:10327, ICD9CM_2006:500]
synonym: "melanoedema" EXACT [DOID:10327]
synonym: "pneumoconiosis from coal dust" EXACT []
xref: COHD:252946 {source="MONDO:equivalentTo"}
xref: DOID:10327 {source="MONDO:equivalentTo", source="EFO:1000814"}
xref: EFO:1000814 {source="MONDO:equivalentTo"}
xref: ICD10:J60 {source="DOID:10327", source="EFO:1000814"}
xref: ICD9:500 {source="DOID:10327", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10073051 {source="EFO:1000814"}
xref: MESH:D055008 {source="DOID:10327", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000814"}
xref: NCIT:C34390 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:29422001 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003165 {source="DOID:10327", source="MONDO:equivalentTo", source="NCIT:C34390"}
is_a: MONDO:0015926 {source="DOID:10327", source="EFO:1000814", source="MESH:D055008", source="MONDO:Redundant", source="NCIT:C34390", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/meddra/10073051
property_value: closeMatch http://identifiers.org/snomedct/155588007
property_value: exactMatch DOID:10327
property_value: exactMatch http://identifiers.org/mesh/D055008
property_value: exactMatch http://identifiers.org/snomedct/29422001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003165
property_value: exactMatch NCIT:C34390

[Term]
id: MONDO:0006655
name: aortic valve prolapse
def: "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." [MESH:D001023]
xref: DOID:5232 {source="EFO:1000815", source="MONDO:equivalentTo"}
xref: EFO:1000815 {source="MONDO:equivalentTo"}
xref: MedDRA:10057454 {source="EFO:1000815"}
xref: MESH:D001023 {source="EFO:1000815", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5232"}
xref: UMLS:C0003505 {source="MONDO:equivalentTo", source="DOID:5232"}
is_a: MONDO:0003803 {source="DOID:5232"} ! aortic valve disease
property_value: closeMatch http://identifiers.org/meddra/10057454
property_value: exactMatch DOID:5232
property_value: exactMatch http://identifiers.org/mesh/D001023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003505

[Term]
id: MONDO:0006656
name: aortitis
def: "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." [NCIT:P378]
synonym: "aorta inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of aorta" EXACT []
xref: DOID:519 {source="EFO:1000816", source="MONDO:equivalentTo"}
xref: EFO:1000816 {source="MONDO:equivalentTo"}
xref: ICD10:I77.6 {source="DOID:519"}
xref: MedDRA:10002921 {source="EFO:1000816"}
xref: MESH:D001025 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519", source="MONDO:ontobio"}
xref: NCIT:C97085 {source="EFO:1000816", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:519"}
xref: SCTID:70933002 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0003509 {source="NCIT:C97085", source="MONDO:equivalentTo", source="DOID:519"}
is_a: MONDO:0005561 {source="DOID:519", source="EFO:1000816", source="MESH:D001025", source="MONDO:Redundant", source="linkedlifedata"} ! aortic disease
is_a: MONDO:0018882 ! vasculitis
property_value: closeMatch http://identifiers.org/meddra/10002921
property_value: closeMatch http://identifiers.org/snomedct/195368003
property_value: exactMatch DOID:519
property_value: exactMatch http://identifiers.org/mesh/D001025
property_value: exactMatch http://identifiers.org/snomedct/70933002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003509
property_value: exactMatch NCIT:C97085

[Term]
id: MONDO:0006657
name: apparent mineralocorticoid excess syndrome
def: "An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism." [NCIT:P378]
synonym: "syndrome of apparent mineralocorticoid Excess" EXACT [NCIT:C123231]
xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"}
xref: EFO:1000817 {source="MONDO:equivalentTo"}
xref: ICD9:255.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D043204 {source="DOID:4367", source="EFO:1000817", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123231 {source="DOID:4367", source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: SCTID:237770005 {source="DOID:4367", source="EFO:1000817", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342488 {source="DOID:4367", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005523 {source="DOID:4367", source="MESH:D043204"} ! steroid inherited metabolic disorder
is_a: MONDO:0015905 ! syndromic dyslipidemia
property_value: exactMatch DOID:4367
property_value: exactMatch http://identifiers.org/mesh/D043204
property_value: exactMatch http://identifiers.org/snomedct/237770005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342488
property_value: exactMatch NCIT:C123231

[Term]
id: MONDO:0006658
name: arteriolosclerosis
def: "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." [NCIT:P378]
synonym: "arteriolosclerosis (morphologic abnormality)" EXACT [DOID:5162]
xref: DOID:5162 {source="EFO:1000819", source="MONDO:equivalentTo"}
xref: EFO:1000819 {source="MONDO:equivalentTo"}
xref: ICD10:I70 {source="DOID:5162", source="MONDO:directSiblingOf"}
xref: MESH:D050379 {source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162", source="MONDO:ontobio"}
xref: NCIT:C35543 {source="EFO:1000819", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:5162"}
xref: UMLS:C0878486 {source="MONDO:equivalentTo", source="NCIT:C35543", source="DOID:5162"}
is_a: MONDO:0021661 ! coronary atherosclerosis
property_value: closeMatch http://identifiers.org/snomedct/17941002
property_value: exactMatch DOID:5162
property_value: exactMatch http://identifiers.org/mesh/D050379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878486
property_value: exactMatch NCIT:C35543

[Term]
id: MONDO:0006659
name: arteriosclerosis obliterans
def: "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." [MESH:D001162]
synonym: "arteriosclerosis obliterans (disorder) [ambiguous]" EXACT [DOID:5160]
xref: DOID:5160 {source="MONDO:equivalentTo", source="EFO:1000820"}
xref: EFO:1000820 {source="MONDO:equivalentTo"}
xref: ICD9:440.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10065418 {source="EFO:1000820"}
xref: MESH:D001162 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820", source="MONDO:ontobio"}
xref: SCTID:361133006 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003851 {source="MONDO:equivalentTo", source="DOID:5160"}
is_a: MONDO:0021661 ! coronary atherosclerosis
property_value: closeMatch http://identifiers.org/meddra/10065418
property_value: closeMatch http://identifiers.org/snomedct/60625000
property_value: exactMatch DOID:5160
property_value: exactMatch http://identifiers.org/mesh/D001162
property_value: exactMatch http://identifiers.org/snomedct/361133006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003851

[Term]
id: MONDO:0006660
name: arthus reaction
def: "A localized vasculitis resulting from deposition of antibody-antigen complexes." [NCIT:C34400]
comment: Editor note: DO classifies as type III, NCIT as type I
synonym: "arthus phenomenon" EXACT [CSP2005:1524-9024, DOID:1556, NCIT:C34400]
synonym: "arthus reaction" EXACT [NCIT:C34400]
synonym: "arthus reaction (function)" EXACT [DOID:1556]
synonym: "arthus type urticaria" EXACT [DOID:1556]
xref: DOID:1556 {source="MONDO:equivalentTo", source="EFO:1000821"}
xref: EFO:1000821 {source="MONDO:equivalentTo"}
xref: ICD10:T78.41 {source="DOID:1556"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:995.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:1556"}
xref: MedDRA:10003420 {source="EFO:1000821"}
xref: MESH:D001183 {source="MONDO:equivalentTo", source="DOID:1556", source="EFO:1000821", source="MONDO:ontobio"}
xref: NCIT:C34400 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1556", source="EFO:1000821"}
xref: SCTID:402413008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1556"}
xref: UMLS:C0003907 {source="MONDO:equivalentTo", source="NCIT:C34400", source="DOID:1556"}
is_a: MONDO:0007004 {source="DOID:1556", source="EFO:1000821", source="MESH:D001183"} ! type III hypersensitivity disease
property_value: closeMatch http://identifiers.org/meddra/10003420
property_value: closeMatch http://identifiers.org/snomedct/29548007
property_value: exactMatch DOID:1556
property_value: exactMatch http://identifiers.org/mesh/D001183
property_value: exactMatch http://identifiers.org/snomedct/402413008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003907
property_value: exactMatch NCIT:C34400

[Term]
id: MONDO:0006661
name: ascorbic acid deficiency
def: "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" [MESH:D001206]
xref: COHD:439787 {source="MONDO:equivalentTo"}
xref: EFO:1000822 {source="MONDO:equivalentTo"}
xref: ICD10:E54 {source="MONDO:equivalentTo", source="EFO:1000822"}
xref: ICD9:267 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10047623 {source="EFO:1000822"}
xref: MESH:D001206 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000822"}
xref: SCTID:76169001 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo", source="EFO:1000822"}
is_a: MONDO:0006873 {source="EFO:1000822", source="MESH:D001206/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch DOID:13577
property_value: closeMatch http://identifiers.org/meddra/10047623
property_value: exactMatch http://identifiers.org/mesh/D001206
property_value: exactMatch http://identifiers.org/snomedct/76169001

[Term]
id: MONDO:0006662
name: aseptic meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." [NCIT:P378]
synonym: "acute aseptic meningitis" EXACT [DOID:12157]
synonym: "aseptic meningitis" EXACT [DOID:12157]
xref: DOID:12157 {source="MONDO:equivalentTo", source="EFO:1000823"}
xref: EFO:1000823 {source="MONDO:equivalentTo"}
xref: ICD10:G03.0 {source="DOID:12157"}
xref: MedDRA:10003458 {source="EFO:1000823"}
xref: MESH:D008582 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12157", source="EFO:1000823"}
xref: NCIT:C118299 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12157", source="EFO:1000823"}
xref: SCTID:301770000 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0025290 {source="NCIT:C118299", source="MONDO:equivalentTo", source="DOID:12157"}
is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C118299", source="linkedlifedata"} ! meningitis (disease)
disjoint_from: MONDO:0006670 ! bacterial meningitis
relationship: excluded_subClassOf MONDO:0007015 {source="DOID:12157"} ! viral meningitis
property_value: closeMatch http://identifiers.org/meddra/10003458
property_value: closeMatch http://identifiers.org/snomedct/186490006
property_value: exactMatch DOID:12157
property_value: exactMatch http://identifiers.org/mesh/D008582
property_value: exactMatch http://identifiers.org/snomedct/301770000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025290
property_value: exactMatch NCIT:C118299

[Term]
id: MONDO:0006663
name: asphyxia neonatorum
def: "Respiratory failure in the newborn. (Dorland, 27th ed)" [MESH:D001238]
subset: gard_rare {source="GARD:0005857"}
synonym: "asphyxia - birth" EXACT [DOID:11088]
synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088]
synonym: "birth asphyxia" EXACT [DOID:11088]
synonym: "birth depression" EXACT [NCIT:C116313]
synonym: "fetal asphyxia" EXACT [NCIT:C116313]
synonym: "hie" EXACT [Orphanet:137577]
synonym: "hypoxia neonatorum" RELATED [GARD:0005857]
synonym: "hypoxic and ischemic brain injury in the newborn" EXACT [Orphanet:137577]
synonym: "hypoxic-ischemic encephalopathy" EXACT [Orphanet:137577]
synonym: "Intrapartum asphyxia" EXACT [NCIT:C116313]
synonym: "neonatal hypoxic and ischemic brain injury" RELATED [Orphanet:137577]
synonym: "perinatal asphyxia" EXACT [NCIT:C116313]
synonym: "perinatal depression" EXACT [NCIT:C116313]
synonym: "perinatal hypoxia" EXACT [Orphanet:137577]
synonym: "postnatal asphyxia" EXACT [CSP2005:0726-3340, DOID:11088]
xref: COHD:439136 {source="MONDO:equivalentTo"}
xref: DOID:11088 {source="MONDO:equivalentTo", source="EFO:1000824"}
xref: EFO:1000824 {source="MONDO:equivalentTo"}
xref: GARD:0005857 {source="MONDO:equivalentTo"}
xref: ICD10:P84 {source="DOID:11088"}
xref: ICD9:768.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11088"}
xref: MESH:D001238 {source="MONDO:equivalentTo", source="DOID:11088", source="MONDO:ontobio", source="EFO:1000824"}
xref: NCIT:C116313 {source="MONDO:equivalentTo"}
xref: Orphanet:137577 {source="MONDO:equivalentTo"}
xref: SCTID:28314004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"}
xref: UMLS:C0004045 {source="MONDO:equivalentTo", source="DOID:11088"}
is_a: MONDO:0005087 {source="DOID:11088", source="EFO:1000824"} ! respiratory system disease
property_value: closeMatch http://identifiers.org/snomedct/157098009
property_value: closeMatch http://identifiers.org/snomedct/206278008
property_value: closeMatch http://identifiers.org/snomedct/268831004
property_value: closeMatch http://identifiers.org/snomedct/268873007
property_value: closeMatch http://identifiers.org/snomedct/413654009
property_value: exactMatch DOID:11088
property_value: exactMatch http://identifiers.org/mesh/D001238
property_value: exactMatch http://identifiers.org/snomedct/28314004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004045
property_value: exactMatch NCIT:C116313
property_value: exactMatch Orphanet:137577
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum xsd:anyURI {source="GARD:0005857"}

[Term]
id: MONDO:0006664
name: atrial heart septal defect
def: "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." [Orphanet:1478]
subset: ordo_morphological_anomaly {source="Orphanet:1478"}
synonym: "ASD" EXACT [Orphanet:1478]
synonym: "atrial septal defect" EXACT [DOID:1882, Orphanet:1478]
synonym: "atrial septum defect" EXACT [NCIT:C84473]
synonym: "atrioseptal defect" EXACT [CSP2005:0725-0467, DOID:1882]
synonym: "auricular septal defect" EXACT [DOID:1882]
synonym: "congenital atrial septal defect" EXACT [DOID:1882]
synonym: "interatrial communication" RELATED [Orphanet:1478]
synonym: "interatrial septal defect" EXACT [DOID:1882]
synonym: "interauricular communication" EXACT [Orphanet:1478]
synonym: "interauricular septal defect" EXACT [DOID:1882]
xref: COHD:4289309 {source="MONDO:equivalentTo"}
xref: DOID:1882 {source="MONDO:equivalentTo", source="EFO:1000825"}
xref: EFO:1000825 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="ORDO:1478/specific", source="ORDO:1478/e", source="DOID:1882", source="Orphanet:1478"}
xref: MedDRA:10003664 {source="ORDO:1478/e", source="Orphanet:1478"}
xref: MedDRA:10019308 {source="EFO:1000825"}
xref: MedDRA:10068864 {source="ORDO:1478/e", source="Orphanet:1478"}
xref: MESH:D006344 {source="ORDO:1478/e", source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="MONDO:ontobio", source="EFO:1000825"}
xref: NCIT:C84473 {source="DOID:1882", source="MONDO:equivalentTo", source="EFO:1000825", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:108800 {source="DOID:1882", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="DOID:1882", source="MONDO:equivalentTo"}
xref: SCTID:253366007 {source="DOID:1882", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
xref: UMLS:C0018817 {source="ORDO:1478/e", source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="NCIT:C84473"}
is_a: MONDO:0002078 {source="DOID:1882", source="MESH:D006344", source="linkedlifedata/inferred"} ! heart septal defect
is_a: MONDO:0017131 {source="Orphanet:1478"} ! genetic cardiac anomaly
is_a: MONDO:0020294 {source="Orphanet:1478"} ! atrial defect and interatrial communication
property_value: closeMatch http://identifiers.org/meddra/10019308
property_value: closeMatch http://identifiers.org/snomedct/156915002
property_value: closeMatch http://identifiers.org/snomedct/204316004
property_value: closeMatch http://identifiers.org/snomedct/253368008
property_value: closeMatch http://identifiers.org/snomedct/268178001
property_value: closeMatch http://identifiers.org/snomedct/405752007
property_value: closeMatch http://identifiers.org/snomedct/69524004
property_value: closeMatch http://identifiers.org/snomedct/70142008
property_value: exactMatch DOID:1882
property_value: exactMatch http://identifiers.org/meddra/10003664
property_value: exactMatch http://identifiers.org/meddra/10068864
property_value: exactMatch http://identifiers.org/mesh/D006344
property_value: exactMatch http://identifiers.org/snomedct/253366007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609256
property_value: exactMatch NCIT:C84473
property_value: exactMatch Orphanet:1478

[Term]
id: MONDO:0006665
name: chronic atrophic gastritis
def: "Atrophic gastritis that is persistent and long-standing." [NCIT:P378]
synonym: "atrophic Gastritides" EXACT [MESH:D005757]
synonym: "atrophic gastritis" EXACT [MESH:D005757]
synonym: "gastric atrophy" EXACT [DOID:8929, NCIT:C7405]
synonym: "Gastritides, atrophic" EXACT [MESH:D005757]
xref: COHD:192667 {source="MONDO:equivalentTo"}
xref: DOID:8929 {source="EFO:1000826", source="MONDO:equivalentTo"}
xref: EFO:1000826 {source="MONDO:equivalentTo"}
xref: ICD10:K29.4 {source="MONDO:equivalentTo", source="DOID:8929"}
xref: ICD9:535.1 {source="EFO:1000826", source="DOID:8929"}
xref: ICD9:535.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:535.11 {source="DOID:8929"}
xref: MedDRA:10003685 {source="EFO:1000826"}
xref: MESH:D005757 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929", source="MONDO:ontobio"}
xref: NCIT:C7405 {source="MONDO:equivalentTo", source="DOID:8929", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:84568007 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929", source="MONDO:kboom-pr-1.00/0.80/9.64"}
is_a: MONDO:0005001 {source="NCIT:C7405", source="linkedlifedata"} ! chronic gastritis (disease)
property_value: closeMatch http://identifiers.org/meddra/10003685
property_value: closeMatch http://identifiers.org/snomedct/155713006
property_value: closeMatch http://identifiers.org/snomedct/196733008
property_value: closeMatch http://identifiers.org/snomedct/270533009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017154
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156073
property_value: exactMatch DOID:8929
property_value: exactMatch http://identifiers.org/mesh/D005757
property_value: exactMatch http://identifiers.org/snomedct/84568007
property_value: exactMatch NCIT:C7405

[Term]
id: MONDO:0006666
name: atrophy of thyroid
def: "Tissue degeneration and diminished size of the thyroid gland." [NCIT:C26942]
synonym: "thyroid atrophy" EXACT [NCIT:C26942]
synonym: "thyroid gland atrophy" EXACT [NCIT:C26942]
xref: EFO:1000827 {source="MONDO:equivalentTo"}
xref: ICD10:E03.4 {source="EFO:1000827"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043693 {source="EFO:1000827"}
xref: NCIT:C26942 {source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo"}
xref: SCTID:190309006 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
xref: UMLS:C2981141 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003240 {source="EFO:1000827", source="NCIT:C26942/inferred", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch DOID:2853
property_value: closeMatch http://identifiers.org/meddra/10043693
property_value: closeMatch http://identifiers.org/mesh/D050033
property_value: exactMatch http://identifiers.org/snomedct/190309006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2981141
property_value: exactMatch NCIT:C26942

[Term]
id: MONDO:0006667
name: obsolete B- and T-cell mixed leukemia
is_obsolete: true
replaced_by: MONDO:0020322

[Term]
id: MONDO:0006668
name: bacterial conjunctivitis
def: "Inflammation of the conjunctiva caused by a variety of bacterial agents." [NCIT:P378]
synonym: "Bacteria caused conjunctival disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria conjunctival disease" EXACT []
synonym: "purulent conjunctivitis" EXACT [DOID:9700]
xref: DOID:9700 {source="EFO:1000829", source="MONDO:equivalentTo"}
xref: EFO:1000829 {source="MONDO:equivalentTo"}
xref: ICD10:H10.0 {source="DOID:9700"}
xref: ICD9:372.03 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10061784 {source="EFO:1000829"}
xref: MESH:D003234 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C53656 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:243321006 {source="DOID:9700", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0009768 {source="DOID:9700", source="MONDO:equivalentTo", source="NCIT:C53656"}
is_a: MONDO:0003799 {source="DOID:9700", source="MESH:D003234", source="NCIT:C53656/inferred", source="linkedlifedata"} ! conjunctivitis (disease)
is_a: MONDO:0005113 {source="MESH:D003234/inferred", source="MONDO:Redundant", source="NCIT:C53656", source="indirect"} ! bacterial infectious disease
is_a: MONDO:0043885 ! eye infectious disease
property_value: closeMatch http://identifiers.org/meddra/10061784
property_value: closeMatch http://identifiers.org/snomedct/128350005
property_value: closeMatch http://identifiers.org/snomedct/17482009
property_value: closeMatch http://identifiers.org/snomedct/193877001
property_value: closeMatch http://identifiers.org/snomedct/243462001
property_value: exactMatch DOID:9700
property_value: exactMatch http://identifiers.org/mesh/D003234
property_value: exactMatch http://identifiers.org/snomedct/243321006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009768
property_value: exactMatch NCIT:C53656

[Term]
id: MONDO:0006669
name: bacterial endocarditis (disease)
def: "Endocarditis that is caused by an infection with a bacterial agent." [NCIT:C128359]
synonym: "Bacteria caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria endocarditis (disease)" EXACT []
synonym: "bacterial endocarditis" EXACT [MONDO:ambiguous]
xref: EFO:1000830 {source="MONDO:equivalentTo"}
xref: HP:0006689 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10004019 {source="EFO:1000830"}
xref: MESH:D004697 {source="MONDO:equivalentTo", source="EFO:1000830", source="MONDO:ontobio"}
xref: NCIT:C128359 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:301183007 {source="MONDO:equivalentTo", source="EFO:1000830", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014121 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C128359"}
is_a: MONDO:0000565 ! infective endocarditis
is_a: MONDO:0005113 ! bacterial infectious disease
property_value: closeMatch DOID:762
property_value: closeMatch http://identifiers.org/meddra/10004019
property_value: exactMatch http://identifiers.org/mesh/D004697
property_value: exactMatch http://identifiers.org/snomedct/301183007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014121
property_value: exactMatch NCIT:C128359

[Term]
id: MONDO:0006670
name: bacterial meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." [NCIT:P378]
subset: gard_rare {source="GARD:0005881"}
synonym: "Bacteria caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria infectious meningitis" EXACT []
synonym: "meningitis, bacterial" RELATED [GARD:0005881]
xref: COHD:436091 {source="MONDO:equivalentTo"}
xref: DOID:9470 {source="MONDO:equivalentTo", source="EFO:1000831"}
xref: EFO:1000831 {source="MONDO:equivalentTo"}
xref: GARD:0005881 {source="MONDO:equivalentTo"}
xref: ICD10:G00 {source="DOID:9470"}
xref: ICD10:G00.9 {source="DOID:9470"}
xref: ICD9:320 {source="DOID:9470", source="EFO:1000831"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:320.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:320.9 {source="DOID:9470", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10004049 {source="EFO:1000831"}
xref: MESH:D016920 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831", source="MONDO:ontobio"}
xref: NCIT:C118297 {source="DOID:9470", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000831"}
xref: SCTID:95883001 {source="DOID:9470", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.66", source="EFO:1000831"}
xref: UMLS:C0085437 {source="NCIT:C118297", source="DOID:9470", source="MONDO:equivalentTo"}
is_a: MONDO:0004796 {source="DOID:9470", source="EFO:1000831", source="MESH:D016920", source="MONDO:Redundant", source="NCIT:C118297", source="linkedlifedata"} ! infectious meningitis
is_a: MONDO:0005113 ! bacterial infectious disease
property_value: closeMatch http://identifiers.org/meddra/10004049
property_value: closeMatch http://identifiers.org/snomedct/154984006
property_value: closeMatch http://identifiers.org/snomedct/192662001
property_value: closeMatch http://identifiers.org/snomedct/267680008
property_value: exactMatch DOID:9470
property_value: exactMatch http://identifiers.org/mesh/D016920
property_value: exactMatch http://identifiers.org/snomedct/95883001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085437
property_value: exactMatch NCIT:C118297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis xsd:anyURI {source="GARD:0005881"}

[Term]
id: MONDO:0006671
name: Bacteroides infectious disease
def: "Infections with bacteria of the genus bacteroides." [MESH:D001442]
synonym: "Bacteroides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteroides disease or disorder" EXACT []
synonym: "Bacteroides infection" RELATED [MESH:D001442]
synonym: "infection caused by Bacteroides" RELATED []
synonym: "infection due to Bacteroides" EXACT []
synonym: "infection, Bacteroides" RELATED [MESH:D001442]
synonym: "infections, Bacteroides" RELATED [MESH:D001442]
xref: EFO:1000832 {source="MONDO:equivalentTo"}
xref: ICD9:041.84 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001442 {source="MONDO:equivalentTo", source="EFO:1000832"}
xref: SCTID:2918000 {source="MONDO:equivalentTo"}
xref: UMLS:C0004669 {source="MONDO:equivalentTo"}
is_a: MONDO:0006705 {source="MESH:D001442", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bacteroidaceae infectious disease
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: closeMatch DOID:4641
property_value: exactMatch http://identifiers.org/mesh/D001442
property_value: exactMatch http://identifiers.org/snomedct/2918000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004669

[Term]
id: MONDO:0006672
name: balanitis
def: "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." [NCIT:C26705]
synonym: "balanitis" EXACT [NCIT:C26705]
synonym: "glans penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of glans penis" EXACT []
xref: DOID:13033 {source="MONDO:equivalentTo", source="EFO:1000833"}
xref: EFO:1000833 {source="MONDO:equivalentTo"}
xref: ICD10:N48.1 {source="MONDO:equivalentTo", source="DOID:13033"}
xref: MedDRA:10004073 {source="EFO:1000833"}
xref: MESH:D001446 {source="MONDO:equivalentTo", source="DOID:13033", source="MONDO:ontobio", source="EFO:1000833"}
xref: NCIT:C26705 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13033", source="EFO:1000833"}
xref: SCTID:44882003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.40", source="DOID:13033", source="EFO:1000833"}
xref: UMLS:C0004690 {source="MONDO:equivalentTo", source="DOID:13033", source="NCIT:C26705"}
is_a: MONDO:0002036 {source="DOID:13033", source="MESH:D001446", source="MONDO:Redundant", source="NCIT:C26705/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10004073
property_value: closeMatch http://identifiers.org/snomedct/155928003
property_value: closeMatch http://identifiers.org/snomedct/198020004
property_value: closeMatch http://identifiers.org/snomedct/198021000
property_value: closeMatch http://identifiers.org/snomedct/266572002
property_value: closeMatch http://identifiers.org/snomedct/371163003
property_value: exactMatch DOID:13033
property_value: exactMatch http://identifiers.org/mesh/D001446
property_value: exactMatch http://identifiers.org/snomedct/44882003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004690
property_value: exactMatch NCIT:C26705

[Term]
id: MONDO:0006673
name: pituitary gland basophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." [NCIT:P378]
synonym: "basophil adenoma" RELATED [DOID:4542]
synonym: "basophilic adenoma" EXACT [NCIT:C2856]
synonym: "basophilic pituitary gland adenoma" EXACT [NCIT:C2856]
synonym: "mucoid cell adenoma" EXACT [NCIT:C2856]
synonym: "pituitary basophilic adenoma" EXACT [NCIT:C2856]
synonym: "pituitary gland basophilic adenoma" EXACT [DOID:4542, NCIT:C2856]
xref: DOID:4542 {source="MONDO:equivalentTo", source="EFO:1000834"}
xref: EFO:1000834 {source="MONDO:equivalentTo"}
xref: ICDO:8300/0 {source="NCIT:C2856"}
xref: MESH:D000237 {source="DOID:4542", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000834"}
xref: NCIT:C2856 {source="DOID:4542", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54", source="EFO:1000834"}
xref: UMLS:C0001431 {source="DOID:4542", source="MONDO:equivalentTo", source="NCIT:C2856"}
is_a: MONDO:0003641 ! central nervous system hematopoietic neoplasm
is_a: MONDO:0004805 {source="DOID:4542"} ! leukocyte disease
is_a: MONDO:0006373 {source="DOID:4542", source="EFO:1000834", source="MONDOLEX:0006673"} ! pituitary gland adenoma
property_value: closeMatch http://identifiers.org/snomedct/9436005
property_value: exactMatch DOID:4542
property_value: exactMatch http://identifiers.org/mesh/D000237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001431
property_value: exactMatch NCIT:C2856

[Term]
id: MONDO:0006674
name: benign fibrous mesothelioma
def: "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [EFO:1000835]
comment: Editor note: consider merging into MONDO:0021041
synonym: "fibrous mesothelioma, benign" EXACT [DOID:2653]
synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [DOID:2653, EFO:1000835]
synonym: "localized benign fibrous mesothelioma" EXACT [DOID:2653, EFO:1000835, NCIT:C4281]
synonym: "solitary fibrous tumor, pleural" RELATED [EFO:1000835]
xref: DOID:2653 {source="MONDO:equivalentTo", source="EFO:1000835"}
xref: MESH:D054363 {source="DOID:2653", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000835"}
xref: UMLS:C0334511 {source="DOID:2653", source="MONDO:equivalentTo"}
is_a: MONDO:0002373 {source="DOID:2653", source="MONDOLEX:0006674"} ! benign mesothelioma
property_value: closeMatch http://identifiers.org/snomedct/15702005
property_value: exactMatch DOID:2653
property_value: exactMatch http://identifiers.org/mesh/D054363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334511

[Term]
id: MONDO:0006675
name: obsolete benign monoclonal gammopathy
is_obsolete: true
replaced_by: MONDO:0004225

[Term]
id: MONDO:0006676
name: beriberi
def: "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." [https://rarediseases.info.nih.gov/diseases/9948/beriberi]
comment: Editor note: check if beriberi should be made a subclass of TD
subset: gard_rare {source="GARD:0009948"}
synonym: "Beri Beri" EXACT [NCIT:C34418]
synonym: "thiamine deficiency" EXACT [GARD:0009948]
synonym: "vitamin B1 deficiency" EXACT [GARD:0009948]
xref: COHD:434620 {source="MONDO:equivalentTo"}
xref: DOID:0070313 {source="MONDO:equivalentTo"}
xref: DOID:13725 {source="EFO:1000837", source="MONDO:equivalentTo"}
xref: EFO:1000837 {source="MONDO:equivalentTo"}
xref: GARD:0009948 {source="MONDO:equivalentTo"}
xref: ICD10:E51.1 {source="EFO:1000837", source="DOID:13725"}
xref: ICD10:E51.11 {source="DOID:13725"}
xref: ICD9:265.0 {source="DOID:13725", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10004482 {source="EFO:1000837"}
xref: MESH:D001602 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34418 {source="DOID:13725", source="MONDO:equivalentTo"}
xref: SCTID:36656008 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.68/2.15"}
xref: UMLS:C0005122 {source="DOID:13725", source="MONDO:equivalentTo"}
is_a: MONDO:0042976 {source="MESH:D001602/inferred", source="NCIT:C34418", source="linkedlifedata/inferred"} ! vitamin B deficiency
relationship: disease_causes_feature MONDO:0010198 ! Wernicke-Korsakoff syndrome
property_value: closeMatch http://identifiers.org/meddra/10004482
property_value: closeMatch http://identifiers.org/snomedct/154725000
property_value: closeMatch http://identifiers.org/snomedct/190625009
property_value: closeMatch http://identifiers.org/snomedct/267491008
property_value: closeMatch http://identifiers.org/snomedct/35843007
property_value: exactMatch DOID:0070313
property_value: exactMatch DOID:13725
property_value: exactMatch http://identifiers.org/mesh/D001602
property_value: exactMatch http://identifiers.org/snomedct/36656008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005122
property_value: exactMatch NCIT:C34418
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9948/beriberi xsd:anyURI {source="GARD:0009948"}

[Term]
id: MONDO:0006677
name: bile reflux
def: "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." [MESH:D001655]
xref: DOID:12237 {source="EFO:1000838", source="MONDO:equivalentTo"}
xref: EFO:1000838 {source="MONDO:equivalentTo"}
xref: MESH:D001655 {source="EFO:1000838", source="DOID:12237", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0005403 {source="DOID:12237", source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="DOID:12237", source="MESH:D001655"} ! biliary tract disease
property_value: exactMatch DOID:12237
property_value: exactMatch http://identifiers.org/mesh/D001655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005403

[Term]
id: MONDO:0006678
name: bladder calculus
def: "A concretion in the urinary bladder." [NCIT:P378]
xref: DOID:11355 {source="EFO:1000839", source="MONDO:equivalentTo"}
xref: EFO:1000839 {source="MONDO:equivalentTo"}
xref: ICD10:N21.0 {source="DOID:11355"}
xref: ICD9:594.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10005001 {source="EFO:1000839"}
xref: MESH:D001744 {source="EFO:1000839", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11355"}
xref: SCTID:70650003 {source="EFO:1000839", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55", source="DOID:11355"}
xref: UMLS:C0005683 {source="MONDO:equivalentTo", source="DOID:11355"}
is_a: MONDO:0004828 {source="DOID:11355", source="linkedlifedata"} ! lower urinary tract calculus
is_a: MONDO:0006026 {source="EFO:1000839", source="MESH:D001744", source="linkedlifedata"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/meddra/10005001
property_value: closeMatch http://identifiers.org/snomedct/155879005
property_value: closeMatch http://identifiers.org/snomedct/197830007
property_value: exactMatch DOID:11355
property_value: exactMatch http://identifiers.org/mesh/D001744
property_value: exactMatch http://identifiers.org/snomedct/70650003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005683
property_value: exactMatch NCIT:C26707

[Term]
id: MONDO:0006679
name: bladder neck obstruction
def: "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." [NCIT:P378]
synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:13948, MTHICD9_2006:596.0]
xref: COHD:433813 {source="MONDO:equivalentTo"}
xref: DOID:13948 {source="MONDO:equivalentTo", source="EFO:1000840"}
xref: EFO:1000840 {source="MONDO:equivalentTo"}
xref: ICD10:N32.0 {source="MONDO:equivalentTo", source="DOID:13948"}
xref: ICD9:596.0 {source="MONDO:equivalentTo", source="DOID:13948", source="i2s"}
xref: MedDRA:10005053 {source="EFO:1000840"}
xref: MESH:D001748 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840", source="MONDO:ontobio"}
xref: SCTID:399072004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13948", source="EFO:1000840"}
xref: UMLS:C0005694 {source="MONDO:equivalentTo", source="DOID:13948"}
is_a: MONDO:0006026 {source="DOID:13948", source="EFO:1000840", source="MESH:D001748", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/meddra/10005053
property_value: closeMatch http://identifiers.org/snomedct/155887006
property_value: closeMatch http://identifiers.org/snomedct/197859007
property_value: closeMatch http://identifiers.org/snomedct/25220001
property_value: closeMatch http://identifiers.org/snomedct/416991005
property_value: exactMatch DOID:13948
property_value: exactMatch http://identifiers.org/mesh/D001748
property_value: exactMatch http://identifiers.org/snomedct/399072004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005694
property_value: exactMatch NCIT:C79541

[Term]
id: MONDO:0006680
name: blue nevus
def: "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." [NCIT:C3803]
subset: gard_rare
synonym: "benign mesenchymal melanoma" RELATED [GARD:0008452]
synonym: "blue neuronevus" RELATED [GARD:0008452]
synonym: "blue nevus" EXACT [GARD:0008452]
synonym: "blue Nevus of skin" EXACT [NCIT:C3803]
synonym: "blue Nevus of the skin" EXACT [NCIT:C3803]
synonym: "blue skin Nevus" EXACT [NCIT:C3803]
synonym: "Jadassohn-TiC(che nevus" RELATED [GARD:0008452]
synonym: "Jadassohn-TiC(che syndrome" RELATED [GARD:0008452]
synonym: "Jadassohn-Tièche nevus" RELATED [GARD:0008452]
synonym: "Jadassohn-Tièche syndrome" RELATED [GARD:0008452]
synonym: "Tièche-Jadassohn nevus" RELATED [GARD:0008452]
xref: EFO:1000841 {source="MONDO:equivalentTo"}
xref: GARD:0008452 {source="MONDO:equivalentTo"}
xref: ICDO:8780/0 {source="NCIT:C3803"}
xref: MedDRA:10062788 {source="EFO:1000841"}
xref: MESH:D018329 {source="MONDO:equivalentTo", source="EFO:1000841", source="MONDO:ontobio"}
xref: NCIT:C3803 {source="MONDO:equivalentTo", source="EFO:1000841", source="exact-label-match"}
xref: SCTID:254806009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="EFO:1000841", source="MESH:D018329/inferred", source="NCIT:C3803/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus
property_value: closeMatch DOID:2086
property_value: closeMatch http://identifiers.org/meddra/10062788
property_value: closeMatch http://identifiers.org/snomedct/63166000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206736
property_value: exactMatch http://identifiers.org/mesh/D018329
property_value: exactMatch http://identifiers.org/snomedct/254806009
property_value: exactMatch NCIT:C3803

[Term]
id: MONDO:0006681
name: Borrelia infectious disease
def: "Infections with bacteria of the genus borrelia." [MESH:D001899]
synonym: "Borrelia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Borrelia disease or disorder" EXACT []
xref: EFO:1000842 {source="MONDO:equivalentTo"}
xref: MedDRA:10061591 {source="EFO:1000842"}
xref: MESH:D001899 {source="MONDO:equivalentTo", source="EFO:1000842"}
xref: UMLS:C0006035 {source="MONDO:equivalentTo"}
is_a: MONDO:0021839 ! spirochaetales infections
property_value: closeMatch DOID:11730
property_value: closeMatch http://identifiers.org/meddra/10061591
property_value: exactMatch http://identifiers.org/mesh/D001899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006035

[Term]
id: MONDO:0006682
name: brachial plexus neuritis
def: "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." [NCIT:P378]
subset: gard_rare
synonym: "acute brachial neuritis" RELATED [GARD:0004228]
synonym: "acute brachial neuritis syndrome" RELATED [GARD:0004228]
synonym: "acute brachial radiculitis syndrome" RELATED [GARD:0004228]
synonym: "acute shoulder neuritis" RELATED [GARD:0004228]
synonym: "brachial nerve plexus neuritis" EXACT [MONDO:patterns/location]
synonym: "brachial neuritis" EXACT [DOID:3689]
synonym: "idiopathic neuralgic amyotrophy" RELATED [GARD:0004228]
synonym: "neuritis of brachial nerve plexus" EXACT [MONDO:design_pattern]
synonym: "parsonage Turner syndrome" RELATED [GARD:0004228]
synonym: "parsonage-Aldren-Turner syndrome" EXACT [DOID:3689, MTHICD9_2006:353.5]
xref: DOID:3689 {source="MONDO:equivalentTo", source="EFO:1000843"}
xref: EFO:1000843 {source="MONDO:equivalentTo"}
xref: GARD:0004228 {source="MONDO:equivalentTo"}
xref: ICD10:G54.5 {source="DOID:3689"}
xref: ICD9:723.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10073002 {source="EFO:1000843"}
xref: MESH:D020968 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843"}
xref: NCIT:C84600 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: SCTID:72893007 {source="MONDO:kboom-pr-0.92/0.83/0.19", source="DOID:3689", source="MONDO:equivalentTo"}
is_a: MONDO:0002122 {source="DOID:3689", source="MESH:D020968", source="MONDO:Redundant", source="linkedlifedata"} ! neuritis
is_a: MONDO:0006683 {source="DOID:3689", source="EFO:1000843", source="MESH:D020968", source="MONDO:Redundant", source="linkedlifedata"} ! brachial plexus neuropathy
property_value: closeMatch http://identifiers.org/meddra/10073002
property_value: closeMatch http://identifiers.org/snomedct/156642003
property_value: closeMatch http://identifiers.org/snomedct/268079007
property_value: exactMatch DOID:3689
property_value: exactMatch http://identifiers.org/mesh/D020968
property_value: exactMatch http://identifiers.org/snomedct/72893007
property_value: exactMatch NCIT:C84600

[Term]
id: MONDO:0006683
name: brachial plexus neuropathy
def: "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." [NCIT:P378]
synonym: "brachial nerve plexus peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "brachial plexopathy" EXACT [DOID:3690, NCIT:C27194]
synonym: "brachial plexus disorder" EXACT [DOID:3690]
synonym: "peripheral neuropathy of brachial nerve plexus" EXACT [MONDO:design_pattern]
xref: COHD:378741 {source="MONDO:equivalentTo"}
xref: DOID:3690 {source="MONDO:equivalentTo", source="EFO:1000844"}
xref: EFO:1000844 {source="MONDO:equivalentTo"}
xref: ICD10:G54.0 {source="DOID:3690"}
xref: ICD9:353.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020516 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3690", source="EFO:1000844"}
xref: NCIT:C27194 {source="MONDO:equivalentTo", source="DOID:3690", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: SCTID:3548001 {source="MONDO:equivalentTo", source="DOID:3690", source="MONDO:kboom-pr-0.94/0.75/1.59"}
xref: UMLS:C0700251 {source="MONDO:equivalentTo", source="DOID:3690", source="NCIT:C27194"}
is_a: MONDO:0024432 {source="MONDO:Redundant", source="NCIT:C27194", source="linkedlifedata"} ! nerve plexus disease
property_value: exactMatch DOID:3690
property_value: exactMatch http://identifiers.org/mesh/D020516
property_value: exactMatch http://identifiers.org/snomedct/3548001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700251
property_value: exactMatch NCIT:C27194

[Term]
id: MONDO:0006684
name: brain edema
def: "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" [MESH:D001929]
synonym: "intracranial swelling" EXACT [DOID:4724]
synonym: "wet brain" EXACT [CSP2005:0485-0998, DOID:4724]
xref: DOID:4724 {source="MONDO:equivalentTo", source="EFO:1000845"}
xref: EFO:1000845 {source="MONDO:equivalentTo"}
xref: ICD9:348.5 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10006121 {source="EFO:1000845"}
xref: MESH:D001929 {source="MONDO:equivalentTo", source="DOID:4724", source="MONDO:ontobio", source="EFO:1000845"}
xref: SCTID:2032001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.23", source="DOID:4724"}
is_a: MONDO:0005560 {source="DOID:4724", source="EFO:1000845", source="MESH:D001929", source="linkedlifedata"} ! brain disease
property_value: closeMatch http://identifiers.org/meddra/10006121
property_value: closeMatch http://identifiers.org/snomedct/85974009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527311
property_value: exactMatch DOID:4724
property_value: exactMatch http://identifiers.org/mesh/D001929
property_value: exactMatch http://identifiers.org/snomedct/2032001

[Term]
id: MONDO:0006685
name: brain hypoxia - ischemia
def: "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions." [MESH:D020925]
xref: EFO:1000846 {source="MONDO:equivalentTo"}
xref: MESH:D020925 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000846"}
is_a: MONDO:0005299 {source="EFO:1000846", source="MESH:68020925", source="https://github.com/monarch-initiative/mondo/issues/580"} ! brain ischemia
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: excluded_subClassOf MONDO:0005560 {source="EFO:1000846", source="MESH:D020925/inferred"} ! brain disease
property_value: closeMatch DOID:4369
property_value: exactMatch http://identifiers.org/mesh/D020925

[Term]
id: MONDO:0006686
name: brain stem infarction
def: "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." [MESH:D020526]
synonym: "brain infarction of brainstem" EXACT [MONDO:design_pattern]
synonym: "brainstem brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "brainstem infarction" EXACT [DOID:3523]
synonym: "brainstem infarction NOS" RELATED EXCLUDE [DOID:3523]
xref: DOID:3523 {source="MONDO:equivalentTo", source="EFO:1000847"}
xref: EFO:1000847 {source="MONDO:equivalentTo"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020526 {source="MONDO:equivalentTo", source="DOID:3523", source="MONDO:ontobio", source="EFO:1000847"}
xref: SCTID:95457000 {source="MONDO:equivalentTo", source="DOID:3523", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0521542 {source="MONDO:equivalentTo", source="DOID:3523"}
is_a: MONDO:0005394 {source="DOID:3523", source="EFO:1000847", source="MESH:D020526", source="MONDO:Redundant"} ! brain infarction
property_value: closeMatch http://identifiers.org/snomedct/195191006
property_value: closeMatch http://identifiers.org/snomedct/195192004
property_value: closeMatch http://identifiers.org/snomedct/230697005
property_value: exactMatch DOID:3523
property_value: exactMatch http://identifiers.org/mesh/D020526
property_value: exactMatch http://identifiers.org/snomedct/95457000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521542

[Term]
id: MONDO:0006687
name: burning mouth syndrome
def: "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." [NCIT:P378]
subset: ordo_disease {source="Orphanet:353253"}
synonym: "BMS" EXACT [Orphanet:353253]
synonym: "oral dysesthesia" EXACT [Orphanet:353253]
synonym: "Orodynia" EXACT [DOID:4331, Orphanet:353253]
synonym: "stomatodynia" EXACT [Orphanet:353253]
synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253]
xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"}
xref: EFO:1000850 {source="MONDO:equivalentTo"}
xref: GARD:0005974 {source="MONDO:equivalentTo"}
xref: ICD10:K14.6 {source="Orphanet:353253", source="ORDO:353253/btnt"}
xref: MedDRA:10068065 {source="EFO:1000850"}
xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"}
xref: NCIT:C62545 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:353253 {source="MONDO:equivalentTo"}
xref: SCTID:399165002 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0006430 {source="Orphanet:353253", source="DOID:4331", source="NCIT:C62545", source="MONDO:equivalentTo"}
xref: UMLS:C2930806 {source="Orphanet:353253", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN242089 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0006687", source="NCIT:C62545"} ! syndromic disease
is_a: MONDO:0006858 {source="DOID:4331", source="MESH:D002054", source="NCIT:C62545/inferred", source="linkedlifedata"} ! mouth disease
relationship: excluded_subClassOf MONDO:0021146 {source="Orphanet:353253"} ! headache disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: closeMatch http://identifiers.org/meddra/10068065
property_value: closeMatch http://identifiers.org/snomedct/111349000
property_value: exactMatch DOID:4331
property_value: exactMatch http://identifiers.org/mesh/D002054
property_value: exactMatch http://identifiers.org/snomedct/399165002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930806
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242089
property_value: exactMatch NCIT:C62545
property_value: exactMatch Orphanet:353253

[Term]
id: MONDO:0006688
name: byssinosis
def: "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." [NCIT:P378]
subset: gard_rare {source="GARD:0005976"}
synonym: "cotton dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "cotton mill fever" EXACT [CSP2005:2596-2097, DOID:10323]
synonym: "flax-dressers' disease" EXACT [DOID:10323]
synonym: "Monday morning fever" RELATED [GARD:0005976]
synonym: "pneumoconiosis from cotton dust" EXACT []
synonym: "stripper's asthma" EXACT [DOID:10323]
xref: DOID:10323 {source="MONDO:equivalentTo", source="EFO:1000851"}
xref: EFO:1000851 {source="MONDO:equivalentTo"}
xref: GARD:0005976 {source="MONDO:equivalentTo"}
xref: ICD10:J66.0 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"}
xref: ICD9:504 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10006822 {source="EFO:1000851"}
xref: MESH:D002095 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"}
xref: NCIT:C84605 {source="DOID:10323", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000851"}
xref: SCTID:13151001 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C0006542 {source="DOID:10323", source="NCIT:C84605", source="MONDO:equivalentTo"}
xref: UMLS:C2242894 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0015926 {source="DOID:10323", source="EFO:1000851", source="MESH:D002095", source="MONDO:Entailed", source="MONDO:Redundant"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/meddra/10006822
property_value: closeMatch http://identifiers.org/snomedct/155589004
property_value: closeMatch http://identifiers.org/snomedct/233689004
property_value: closeMatch http://identifiers.org/snomedct/266400008
property_value: closeMatch http://identifiers.org/snomedct/85761009
property_value: exactMatch DOID:10323
property_value: exactMatch http://identifiers.org/mesh/D002095
property_value: exactMatch http://identifiers.org/snomedct/13151001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242894
property_value: exactMatch NCIT:C84605
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5976/byssinosis xsd:anyURI {source="GARD:0005976"}

[Term]
id: MONDO:0006689
name: carcinoid syndrome
def: "A paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and less frequently, heart failure, emesis and bronchoconstriction. It is caused by endogenous secretion of mainly serotonin and kallikrein." [https://en.wikipedia.org/wiki/Carcinoid_syndrome]
subset: gard_rare {source="GARD:0005994"}
subset: ordo_clinical_syndrome {source="Orphanet:100093"}
synonym: "carcinoid syndrome" EXACT [MONDO:0007262]
synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994]
synonym: "carcinoid tumors, intestinal" RELATED [OMIM:114900]
synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093]
xref: COHD:199771 {source="MONDO:equivalentTo"}
xref: EFO:1000852 {source="MONDO:equivalentTo"}
xref: GARD:0005994 {source="MONDO:equivalentTo"}
xref: ICD10:E34.0 {source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093", source="ORDO:100093/e"}
xref: ICD9:259.2 {source="MONDO:equivalentTo", source="EFO:1000852", source="i2s"}
xref: MedDRA:10007270 {source="EFO:1000852"}
xref: NCIT:C3215 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000852"}
xref: OMIM:114900 {source="MONDO:equivalentTo", source="Orphanet:100093", source="ORDO:100093/e"}
xref: Orphanet:100093 {source="MONDO:equivalentTo", source="OMIM:114900"}
xref: SCTID:35868009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000852"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDOLEX:0006689", source="NCIT:C3215/inferred", source="OWLReasoner:2017"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_feature MONDO:0005369 ! carcinoid tumor (disease)
relationship: disease_has_feature MONDO:0005369 ! carcinoid tumor (disease)
relationship: excluded_subClassOf MONDO:0005369 {source="EFO:1000852"} ! carcinoid tumor (disease)
relationship: excluded_subClassOf MONDO:0015078 {source="Orphanet:100093"} ! obsolete gastroenteropancreatic neuroendocrine neoplasm
property_value: closeMatch DOID:8600
property_value: closeMatch http://identifiers.org/meddra/10007270
property_value: closeMatch http://identifiers.org/mesh/D008303
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024586
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349535
property_value: exactMatch http://identifiers.org/omim/114900
property_value: exactMatch http://identifiers.org/snomedct/35868009
property_value: exactMatch NCIT:C3215
property_value: exactMatch Orphanet:100093
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome xsd:anyURI {source="GARD:0005994"}

[Term]
id: MONDO:0006690
name: carotid artery thrombosis
def: "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." [MESH:D002341]
synonym: "carotid artery thrombosis" EXACT [DOID:3410]
xref: DOID:3410 {source="MONDO:equivalentTo", source="EFO:1000853"}
xref: EFO:1000853 {source="MONDO:equivalentTo"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10007688 {source="EFO:1000853"}
xref: MESH:D002341 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853", source="MONDO:ontobio"}
xref: SCTID:86003009 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0007274 {source="DOID:3410", source="MONDO:equivalentTo"}
is_a: MONDO:0002907 {source="DOID:3410"} ! intracranial thrombosis
is_a: MONDO:0005269 {source="DOID:3410", source="EFO:1000853", source="MESH:D002341", source="linkedlifedata"} ! carotid artery disease
property_value: closeMatch http://identifiers.org/meddra/10007688
property_value: closeMatch http://identifiers.org/snomedct/195181000
property_value: exactMatch DOID:3410
property_value: exactMatch http://identifiers.org/mesh/D002341
property_value: exactMatch http://identifiers.org/snomedct/86003009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007274

[Term]
id: MONDO:0006691
name: obsolete causalgia
is_obsolete: true
replaced_by: MONDO:0020572

[Term]
id: MONDO:0006692
name: central pontine myelinolysis
def: "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." [NCIT:P378]
synonym: "osmotic demyelination syndrome" EXACT [DOID:636]
xref: DOID:636 {source="MONDO:equivalentTo", source="EFO:1000857"}
xref: EFO:1000857 {source="MONDO:equivalentTo"}
xref: GARD:0008749 {source="MONDO:equivalentTo"}
xref: ICD10:G37.2 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10007968 {source="EFO:1000857"}
xref: MESH:D017590 {source="DOID:636", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000857"}
xref: NCIT:C84623 {source="DOID:636", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000857"}
xref: SCTID:6807001 {source="DOID:636", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000857"}
xref: UMLS:C0206083 {source="NCIT:C84623", source="DOID:636", source="MONDO:equivalentTo"}
is_a: MONDO:0002562 {source="DOID:636", source="ICD10:G37.2/inferred", source="MESH:D017590", source="NCIT:C84623/inferred"} ! demyelinating disease
property_value: closeMatch http://identifiers.org/meddra/10007968
property_value: exactMatch DOID:636
property_value: exactMatch http://identifiers.org/mesh/D017590
property_value: exactMatch http://identifiers.org/snomedct/6807001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206083
property_value: exactMatch NCIT:C84623

[Term]
id: MONDO:0006693
name: cerebral arterial disease
def: "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." [MESH:D002539]
xref: DOID:3527 {source="EFO:1000859", source="MONDO:equivalentTo"}
xref: EFO:1000859 {source="MONDO:equivalentTo"}
xref: MESH:D002539 {source="EFO:1000859", source="MONDO:equivalentTo", source="DOID:3527", source="MONDO:ontobio"}
xref: UMLS:C0007774 {source="MONDO:equivalentTo", source="DOID:3527"}
is_a: MONDO:0006808 {source="DOID:3527", source="MESH:D002539"} ! intracranial arterial disease
property_value: exactMatch DOID:3527
property_value: exactMatch http://identifiers.org/mesh/D002539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007774

[Term]
id: MONDO:0006694
name: cerebral atherosclerosis
def: "Atherosclerosis of the cerebral vasculature." [NCIT:P378]
synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD9CM_2006:437.0]
xref: COHD:316437 {source="MONDO:equivalentTo"}
xref: DOID:12720 {source="MONDO:equivalentTo", source="EFO:1000860"}
xref: EFO:1000860 {source="MONDO:equivalentTo"}
xref: ICD10:I67.2 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"}
xref: ICD9:437.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12720"}
xref: MedDRA:1008095 {source="EFO:1000860"}
xref: NCIT:C34459 {source="MONDO:equivalentTo", source="EFO:1000860", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:12720"}
xref: SCTID:55382008 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0007775 {source="MONDO:equivalentTo", source="NCIT:C34459", source="DOID:12720"}
is_a: MONDO:0005311 {source="DOID:12720", source="EFO:1000860", source="NCIT:C34459", source="linkedlifedata"} ! atherosclerosis
property_value: closeMatch http://identifiers.org/meddra/1008095
property_value: closeMatch http://identifiers.org/snomedct/195220007
property_value: closeMatch http://identifiers.org/snomedct/266258005
property_value: exactMatch DOID:12720
property_value: exactMatch http://identifiers.org/snomedct/55382008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007775
property_value: exactMatch NCIT:C34459

[Term]
id: MONDO:0006695
name: obsolete cervical rib syndrome
is_obsolete: true
replaced_by: MONDO:0007303

[Term]
id: MONDO:0006696
name: cervix erosion
def: "Loss or destruction of the epithelial lining of the uterine cervix." [MESH:D002579]
synonym: "erosion of cervix" EXACT [DOID:3456]
xref: DOID:3456 {source="MONDO:equivalentTo", source="EFO:1000862"}
xref: EFO:1000862 {source="MONDO:equivalentTo"}
xref: MedDRA:10015128 {source="EFO:1000862"}
xref: MESH:D002579 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862", source="MONDO:ontobio"}
xref: SCTID:61253004 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0007869 {source="DOID:3456", source="MONDO:equivalentTo"}
is_a: MONDO:0002256 {source="DOID:3456", source="MESH:D002579", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervix disease
property_value: closeMatch http://identifiers.org/meddra/10015128
property_value: closeMatch http://identifiers.org/snomedct/156011009
property_value: closeMatch http://identifiers.org/snomedct/266662008
property_value: exactMatch DOID:3456
property_value: exactMatch http://identifiers.org/mesh/D002579
property_value: exactMatch http://identifiers.org/snomedct/61253004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007869

[Term]
id: MONDO:0006697
name: obsolete Chlamydophila infectious disease
is_obsolete: true
replaced_by: MONDO:0021697

[Term]
id: MONDO:0006698
name: cholecystolithiasis
def: "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." [NCIT:P378]
xref: DOID:11151 {source="MONDO:equivalentTo", source="EFO:1000864"}
xref: EFO:1000864 {source="MONDO:equivalentTo"}
xref: MedDRA:10049890 {source="EFO:1000864"}
xref: MESH:D041761 {source="MONDO:equivalentTo", source="DOID:11151", source="EFO:1000864", source="MONDO:ontobio"}
xref: UMLS:C0947622 {source="MONDO:equivalentTo", source="DOID:11151"}
is_a: MONDO:0005281 {source="DOID:11151", source="EFO:1000864", source="MESH:D041761"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/meddra/10049890
property_value: closeMatch http://identifiers.org/snomedct/197376000
property_value: closeMatch http://identifiers.org/snomedct/266541001
property_value: closeMatch http://identifiers.org/snomedct/44900007
property_value: exactMatch DOID:11151
property_value: exactMatch http://identifiers.org/mesh/D041761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0947622
property_value: exactMatch NCIT:C34443

[Term]
id: MONDO:0006699
name: choledocholithiasis
def: "Presence or formation of gallstones in the common bile duct." [MESH:D042883]
xref: DOID:11755 {source="MONDO:equivalentTo", source="EFO:1000865"}
xref: EFO:1000865 {source="MONDO:equivalentTo"}
xref: MedDRA:10049891 {source="EFO:1000865"}
xref: MESH:D042883 {source="DOID:11755", source="MONDO:equivalentTo", source="EFO:1000865", source="MONDO:ontobio"}
xref: UMLS:C0701818 {source="DOID:11755", source="MONDO:equivalentTo"}
is_a: MONDO:0002886 {source="DOID:11755", source="MESH:D042883", source="MONDO:Redundant"} ! common bile duct disease
is_a: MONDO:0005151 {source="EFO:1000865"} ! endocrine system disease
is_a: MONDO:0005346 ! gallstones
relationship: excluded_subClassOf MONDO:0005151 {source="EFO:1000865"} ! endocrine system disease
relationship: excluded_subClassOf MONDO:0005281 {source="DOID:11755"} ! gallbladder disease
property_value: closeMatch http://identifiers.org/meddra/10049891
property_value: closeMatch http://identifiers.org/snomedct/197376000
property_value: closeMatch http://identifiers.org/snomedct/197397004
property_value: closeMatch http://identifiers.org/snomedct/49910001
property_value: exactMatch DOID:11755
property_value: exactMatch http://identifiers.org/mesh/D042883
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701818

[Term]
id: MONDO:0006700
name: choroid cancer
def: "A malignant neoplasm involving the optic choroid." [MONDO:DesignPattern]
synonym: "cancer of optic choroid" EXACT [MONDO:patterns/cancer]
synonym: "choroid neoplasm" BROAD [DOID:12759]
synonym: "choroidal tumor" BROAD [DOID:12759, NCIT:C2949]
synonym: "malignant choroid neoplasm" EXACT [NCIT:C3566]
synonym: "malignant choroid tumor" EXACT [NCIT:C3566]
synonym: "malignant neoplasm of choroid" EXACT [NCIT:C3566]
synonym: "malignant neoplasm of optic choroid" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the choroid" EXACT [NCIT:C3566]
synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of choroid" EXACT [NCIT:C3566]
synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566]
synonym: "neoplasm of choroid" EXACT EXCLUDE [DOID:12759]
synonym: "optic choroid cancer" EXACT [MONDO:patterns/location]
xref: DOID:12759 {source="MONDO:equivalentTo", source="EFO:1000866"}
xref: EFO:1000866 {source="MONDO:equivalentTo"}
xref: ICD10:C69.3 {source="DOID:12759"}
xref: ICD9:190.6 {source="DOID:12759", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10057405 {source="EFO:1000866"}
xref: MESH:D002830 {source="DOID:12759", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000866"}
xref: NCIT:C3566 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="DOID:12759", source="MONDO:equivalentTo"}
xref: SCTID:363466008 {source="DOID:12759", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002659 {source="DOID:12759", source="MONDO:Redundant", source="NCIT:C3566"} ! uveal cancer
is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3566"} ! choroid neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/meddra/10057405
property_value: closeMatch http://identifiers.org/snomedct/127001008
property_value: closeMatch http://identifiers.org/snomedct/93755007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008523
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153630
property_value: exactMatch DOID:12759
property_value: exactMatch http://identifiers.org/mesh/D002830
property_value: exactMatch http://identifiers.org/snomedct/363466008
property_value: exactMatch NCIT:C3566

[Term]
id: MONDO:0006701
name: chromophobe adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes." [NCIT:P378]
synonym: "chromophobe adenoma of pituitary gland" EXACT [NCIT:C2857]
synonym: "chromophobe adenoma of the pituitary gland" EXACT [DOID:3828, NCIT:C2857]
synonym: "pituitary chromophobe adenoma" EXACT [NCIT:C2857]
synonym: "pituitary gland chromophobe adenoma" EXACT [NCIT:C2857]
xref: DOID:3828 {source="MONDO:equivalentTo", source="EFO:1000867"}
xref: EFO:1000867 {source="MONDO:equivalentTo"}
xref: ICDO:8270/0 {source="NCIT:C2857"}
xref: MESH:D000238 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000867", source="DOID:3828"}
xref: NCIT:C2857 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0001432 {source="NCIT:C2857", source="MONDO:equivalentTo", source="DOID:3828"}
is_a: MONDO:0006373 {source="DOID:3828", source="MONDOLEX:0006701"} ! pituitary gland adenoma
property_value: closeMatch http://identifiers.org/snomedct/37039006
property_value: exactMatch DOID:3828
property_value: exactMatch http://identifiers.org/mesh/D000238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001432
property_value: exactMatch NCIT:C2857

[Term]
id: MONDO:0006702
name: chronic inflammatory demyelinating polyradiculoneuropathy
def: "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]
synonym: "chronic relapsing polyneuropathy" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]
synonym: "CIDP" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]
xref: DOID:5213 {source="MONDO:equivalentTo", source="EFO:1000868"}
xref: EFO:1000868 {source="MONDO:equivalentTo"}
xref: ICD10:G61.81 {source="DOID:5213", source="MONDO:directSiblingOf"}
xref: ICD9:357.81 {source="DOID:5213", source="MONDO:directSiblingOf"}
xref: ICD9:357.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10057645 {source="EFO:1000868"}
xref: MESH:D020277 {source="DOID:5213", source="MONDO:equivalentTo", source="EFO:1000868"}
xref: SCTID:128209004 {source="DOID:5213", source="MONDO:equivalentTo", source="EFO:1000868"}
is_a: MONDO:0003334 {source="DOID:5213", source="linkedlifedata"} ! demyelinating polyneuropathy
is_a: MONDO:0006915 {source="DOID:5213", source="MESH:D020277", source="linkedlifedata"} ! polyradiculoneuropathy
property_value: exactMatch DOID:5213
property_value: exactMatch http://identifiers.org/mesh/D020277
property_value: exactMatch http://identifiers.org/snomedct/128209004

[Term]
id: MONDO:0006703
name: obsolete chronic interstitial cystitis
def: "Chronic form of interstitial cystitis." [MONDO:patterns/chronic]
synonym: "interstitial cystitis, chronic" EXACT [MONDO:patterns/chronic]
is_obsolete: true
replaced_by: MONDO:0018301

[Term]
id: MONDO:0006704
name: CNS demyelinating autoimmune disease
def: "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." [MESH:D020278]
xref: EFO:1000870 {source="MONDO:equivalentTo"}
xref: MESH:D020278 {source="EFO:1000870", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0007179 {source="EFO:1000870", source="MESH:D020278/inferred"} ! autoimmune disease
property_value: closeMatch DOID:641
property_value: exactMatch http://identifiers.org/mesh/D020278

[Term]
id: MONDO:0006705
name: Bacteroidaceae infectious disease
def: "Infections with bacteria of the family BACTEROIDACEAE." [MESH:D016866]
synonym: "Bacteroidaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteroidaceae disease or disorder" EXACT []
synonym: "Bacteroidaceae infection" RELATED [MESH:D016866]
synonym: "infection, Bacteroidaceae" RELATED [MESH:D016866]
synonym: "infections, Bacteroidaceae" RELATED [MESH:D016866]
xref: EFO:1000872 {source="MONDO:equivalentTo"}
xref: MESH:D016866 {source="EFO:1000872", source="MONDO:equivalentTo"}
xref: UMLS:C0085392 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D016866"} ! gram-negative bacterial infections
property_value: closeMatch DOID:4106
property_value: exactMatch http://identifiers.org/mesh/D016866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085392

[Term]
id: MONDO:0006706
name: Bifidobacteriales infectious disease
def: "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." [MESH:D039941]
synonym: "Bifidobacteriales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bifidobacteriales disease or disorder" EXACT []
synonym: "Bifidobacteriales infection" RELATED [MESH:D039941]
synonym: "infection, Bifidobacteriales" RELATED [MESH:D039941]
synonym: "infections, Bifidobacteriales" RELATED [MESH:D039941]
xref: EFO:1000873 {source="MONDO:equivalentTo"}
xref: MESH:D039941 {source="MONDO:equivalentTo", source="EFO:1000873"}
xref: UMLS:C1136339 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1000873", source="MESH:D039941/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
property_value: closeMatch DOID:4200
property_value: exactMatch http://identifiers.org/mesh/D039941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1136339

[Term]
id: MONDO:0006708
name: Desulfovibrionaceae infectious disease
def: "Infections with bacteria of the family Desulfovibrionaceae." [MESH:D045824]
synonym: "Bilophila infection" RELATED [MESH:D045824]
synonym: "Bilophila infections" RELATED [MESH:D045824]
synonym: "commensal Bilophila infection" RELATED []
synonym: "Desulfovibrio infection" RELATED [MESH:D045824]
synonym: "Desulfovibrio infections" RELATED [MESH:D045824]
synonym: "Desulfovibrionaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Desulfovibrionaceae disease or disorder" EXACT []
synonym: "Desulfovibrionaceae infection" RELATED [MESH:D045824]
synonym: "infection, Bilophila" RELATED [MESH:D045824]
synonym: "infection, Desulfovibrio" RELATED [MESH:D045824]
synonym: "infection, Desulfovibrionaceae" RELATED [MESH:D045824]
synonym: "infection, Lawsonia" RELATED [MESH:D045824]
synonym: "infections, Bilophila" RELATED [MESH:D045824]
synonym: "infections, Desulfovibrio" RELATED [MESH:D045824]
synonym: "infections, Desulfovibrionaceae" RELATED [MESH:D045824]
synonym: "infections, Lawsonia" RELATED [MESH:D045824]
synonym: "Lawsonia infection" RELATED [MESH:D045824]
synonym: "Lawsonia infections" RELATED [MESH:D045824]
xref: EFO:1000875 {source="MONDO:equivalentTo"}
xref: MESH:D045824 {source="MONDO:equivalentTo", source="EFO:1000875"}
is_a: MONDO:0021678 {source="MESH:D045824"} ! gram-negative bacterial infections
property_value: closeMatch DOID:3636
property_value: exactMatch http://identifiers.org/mesh/D045824

[Term]
id: MONDO:0006709
name: common bile duct neoplasm
def: "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." [MESH:D003138]
synonym: "common bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "common bile duct tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of common bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of common bile duct" EXACT [MONDO:patterns/neoplasm]
xref: DOID:4608 {source="MONDO:equivalentTo", source="EFO:1000876"}
xref: EFO:1000876 {source="MONDO:equivalentTo"}
xref: MESH:D003138 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"}
xref: SCTID:126857009 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0009442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:4608"}
is_a: MONDO:0002886 {source="MESH:D003138", source="MONDO:Redundant"} ! common bile duct disease
is_a: MONDO:0021385 {source="MONDO:Redundant", source="linkedlifedata"} ! extrahepatic bile duct neoplasm
property_value: exactMatch DOID:4608
property_value: exactMatch http://identifiers.org/mesh/D003138
property_value: exactMatch http://identifiers.org/snomedct/126857009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009442

[Term]
id: MONDO:0006710
name: complex partial epilepsy
def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029]
synonym: "Complex partial epileptic seizure" EXACT [DOID:12382]
synonym: "epilepsy, psychomotor" EXACT [DOID:12382, MTHICD9_2006:345.4]
synonym: "psychomotor epilepsy" EXACT [CSP2005:0485-7151, DOID:12382]
xref: COHD:4236312 {source="MONDO:equivalentTo"}
xref: DOID:12382 {source="MONDO:equivalentTo", source="EFO:1000877"}
xref: EFO:1000877 {source="MONDO:equivalentTo"}
xref: ICD9:345.40 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D017029 {source="DOID:12382", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000877"}
xref: SCTID:407675009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:12382", source="MONDO:equivalentTo"}
xref: UMLS:C0085417 {source="DOID:12382", source="MONDO:equivalentTo"}
is_a: MONDO:0005384 {source="DOID:12382", source="EFO:1000877", source="MESH:D017029", source="MONDOLEX:0006710"} ! partial epilepsy
property_value: closeMatch http://identifiers.org/snomedct/193001003
property_value: closeMatch http://identifiers.org/snomedct/307358009
property_value: closeMatch http://identifiers.org/snomedct/361123003
property_value: closeMatch http://identifiers.org/snomedct/84340007
property_value: exactMatch DOID:12382
property_value: exactMatch http://identifiers.org/mesh/D017029
property_value: exactMatch http://identifiers.org/snomedct/407675009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085417

[Term]
id: MONDO:0006711
name: constrictive pericarditis (disease)
def: "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." [NCIT:P378]
synonym: "constrictive pericarditis" EXACT [DOID:11481, ICD9CM_2006:423.2, MONDO:ambiguous]
xref: COHD:312334 {source="MONDO:equivalentTo"}
xref: DOID:11481 {source="MONDO:equivalentTo", source="EFO:1000878"}
xref: EFO:1000878 {source="MONDO:equivalentTo"}
xref: HP:0002563 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:423.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11481", source="EFO:1000878"}
xref: MedDRA:10010783 {source="EFO:1000878"}
xref: MESH:D010494 {source="MONDO:equivalentTo", source="DOID:11481", source="MONDO:ontobio", source="EFO:1000878"}
xref: NCIT:C78246 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45", source="DOID:11481", source="EFO:1000878"}
xref: SCTID:85598007 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031048 {source="MONDO:equivalentTo", source="NCIT:C78246", source="DOID:11481"}
is_a: MONDO:0005904 {source="DOID:11481", source="EFO:1000878", source="MESH:D010494", source="NCIT:C78246", source="linkedlifedata"} ! pericarditis (disease)
property_value: closeMatch http://identifiers.org/meddra/10010783
property_value: closeMatch http://identifiers.org/snomedct/155340008
property_value: closeMatch http://identifiers.org/snomedct/194969008
property_value: exactMatch DOID:11481
property_value: exactMatch http://identifiers.org/mesh/D010494
property_value: exactMatch http://identifiers.org/snomedct/85598007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031048
property_value: exactMatch NCIT:C78246

[Term]
id: MONDO:0006712
name: corneal edema
def: "Hazy, swollen cornea." [NCIT:P378]
synonym: "corneal oedema" EXACT [DOID:11030]
xref: COHD:380102 {source="MONDO:equivalentTo"}
xref: DOID:11030 {source="MONDO:equivalentTo", source="EFO:1000879"}
xref: EFO:1000879 {source="MONDO:equivalentTo"}
xref: ICD10:H18.20 {source="DOID:11030"}
xref: ICD9:371.2 {source="DOID:11030", source="EFO:1000879"}
xref: ICD9:371.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:11030"}
xref: MedDRA:10011007 {source="EFO:1000879"}
xref: MESH:D015715 {source="MONDO:equivalentTo", source="DOID:11030", source="MONDO:ontobio", source="EFO:1000879"}
xref: SCTID:27194006 {source="MONDO:equivalentTo", source="DOID:11030", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000879"}
xref: UMLS:C0010037 {source="MONDO:equivalentTo", source="DOID:11030"}
is_a: MONDO:0000942 {source="DOID:11030", source="MESH:D015715", source="linkedlifedata"} ! corneal disease
property_value: closeMatch http://identifiers.org/meddra/10011007
property_value: closeMatch http://identifiers.org/snomedct/155158008
property_value: closeMatch http://identifiers.org/snomedct/193811006
property_value: closeMatch http://identifiers.org/snomedct/193812004
property_value: closeMatch http://identifiers.org/snomedct/193817005
property_value: exactMatch DOID:11030
property_value: exactMatch http://identifiers.org/mesh/D015715
property_value: exactMatch http://identifiers.org/snomedct/27194006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010037
property_value: exactMatch NCIT:C50508

[Term]
id: MONDO:0006713
name: corneal neovascularization
def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." [MESH:D016510]
xref: COHD:375267 {source="MONDO:equivalentTo"}
xref: DOID:11382 {source="EFO:1000880", source="MONDO:equivalentTo"}
xref: EFO:1000880 {source="MONDO:equivalentTo"}
xref: ICD10:H16.4 {source="DOID:11382"}
xref: ICD10:H16.40 {source="DOID:11382"}
xref: ICD9:370.6 {source="EFO:1000880", source="DOID:11382"}
xref: ICD9:370.60 {source="MONDO:equivalentTo", source="i2s", source="DOID:11382"}
xref: MedDRA:10011031 {source="EFO:1000880"}
xref: MESH:D016510 {source="EFO:1000880", source="MONDO:equivalentTo", source="DOID:11382", source="MONDO:ontobio"}
xref: SCTID:19161004 {source="EFO:1000880", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11382"}
xref: UMLS:C0085109 {source="MONDO:equivalentTo", source="DOID:11382"}
is_a: MONDO:0003085 {source="DOID:11382"} ! keratitis
property_value: closeMatch http://identifiers.org/meddra/10011031
property_value: closeMatch http://identifiers.org/snomedct/193789007
property_value: closeMatch http://identifiers.org/snomedct/193791004
property_value: exactMatch DOID:11382
property_value: exactMatch http://identifiers.org/mesh/D016510
property_value: exactMatch http://identifiers.org/snomedct/19161004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085109

[Term]
id: MONDO:0006714
name: coronary aneurysm
def: "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." [MESH:D003323]
synonym: "aneurysm of coronary vessels" EXACT [DOID:3362, ICD9CM_2006:414.11]
synonym: "aneurysmal lesion of coronary artery" EXACT [DOID:3362]
synonym: "arteriovenous aneurysm of coronary vessels" EXACT [DOID:3362, MTHICD9_2006:414.11]
synonym: "coronary artery aneurysm" RELATED [GARD:0006200]
xref: COHD:316427 {source="MONDO:equivalentTo"}
xref: DOID:3362 {source="EFO:1000881", source="MONDO:equivalentTo"}
xref: EFO:1000881 {source="MONDO:equivalentTo"}
xref: GARD:0006200 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0030882
xref: ICD10:I25.4 {source="EFO:1000881"}
xref: ICD10:I25.41 {source="DOID:3362"}
xref: ICD9:414.11 {source="EFO:1000881", source="MONDO:equivalentTo", source="i2s", source="DOID:3362"}
xref: MedDRA:10002348 {source="EFO:1000881"}
xref: MESH:D003323 {source="EFO:1000881", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3362"}
xref: SCTID:50570003 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010051 {source="MONDO:equivalentTo", source="DOID:3362"}
is_a: MONDO:0005010 {source="linkedlifedata"} ! coronary artery disease
relationship: excluded_subClassOf MONDO:0006779 {source="DOID:3362"} ! heart aneurysm
property_value: closeMatch http://identifiers.org/meddra/10002348
property_value: closeMatch http://identifiers.org/snomedct/373139003
property_value: exactMatch DOID:3362
property_value: exactMatch http://identifiers.org/mesh/D003323
property_value: exactMatch http://identifiers.org/snomedct/50570003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010051

[Term]
id: MONDO:0006715
name: coronary stenosis
def: "Narrowing of the coronary artery lumen diameter." [NCIT:P378]
synonym: "coronary artery stenosis" EXACT [DOID:4248]
xref: DOID:4248 {source="MONDO:equivalentTo", source="EFO:1000882"}
xref: EFO:1000882 {source="MONDO:equivalentTo"}
xref: MedDRA:10011089 {source="EFO:1000882"}
xref: MESH:D023921 {source="DOID:4248", source="MONDO:equivalentTo", source="EFO:1000882", source="MONDO:ontobio"}
xref: SCTID:233970002 {source="DOID:4248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0242231 {source="DOID:4248", source="MONDO:equivalentTo"}
is_a: MONDO:0005010 {source="DOID:4248", source="EFO:1000882", source="EFO:1000882/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! coronary artery disease
property_value: closeMatch http://identifiers.org/meddra/10011089
property_value: closeMatch http://identifiers.org/snomedct/251030009
property_value: exactMatch DOID:4248
property_value: exactMatch http://identifiers.org/mesh/D023921
property_value: exactMatch http://identifiers.org/snomedct/233970002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242231
property_value: exactMatch NCIT:C80427

[Term]
id: MONDO:0006716
name: coronary thrombosis
def: "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." [MESH:D003328]
synonym: "coronary artery thrombosis" EXACT [DOID:11847]
synonym: "coronary vessel thrombotic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thrombotic disease of coronary vessel" EXACT [MONDO:design_pattern]
xref: DOID:11847 {source="EFO:1000883", source="MONDO:equivalentTo"}
xref: EFO:1000883 {source="MONDO:equivalentTo"}
xref: ICD10:I21 {source="MONDO:relatedTo", source="DOID:11847"}
xref: ICD10:I22 {source="MONDO:relatedTo", source="DOID:11847"}
xref: MedDRA:10011108 {source="EFO:1000883"}
xref: MESH:D003328 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847", source="MONDO:ontobio"}
xref: SCTID:398274000 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010072 {source="MONDO:equivalentTo", source="DOID:11847"}
is_a: MONDO:0000831 {source="DOID:11847", source="MESH:D003328", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombotic disease
is_a: MONDO:0005010 {source="DOID:11847", source="EFO:1000883", source="EFO:1000883/inferred", source="linkedlifedata"} ! coronary artery disease
property_value: closeMatch http://identifiers.org/meddra/10011108
property_value: closeMatch http://identifiers.org/snomedct/155304006
property_value: closeMatch http://identifiers.org/snomedct/194796000
property_value: closeMatch http://identifiers.org/snomedct/266288001
property_value: closeMatch http://identifiers.org/snomedct/66514008
property_value: exactMatch DOID:11847
property_value: exactMatch http://identifiers.org/mesh/D003328
property_value: exactMatch http://identifiers.org/snomedct/398274000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010072

[Term]
id: MONDO:0006717
name: cutaneous fibrous histiocytoma
def: "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern." [NCIT:P378]
synonym: "benign cutaneous fibrous histiocytoma" EXACT [DOID:4418, NCIT:C6801]
synonym: "benign fibrous cutaneous histiocytoma" EXACT [NCIT:C6801]
synonym: "benign fibrous histiocytoma of skin" EXACT [NCIT:C6801]
synonym: "benign fibrous histiocytoma of the skin" EXACT [NCIT:C6801]
synonym: "benign skin fibrous histiocytoma" EXACT [NCIT:C6801]
synonym: "cutaneous fibrous histiocytoma" EXACT [NCIT:C6801]
synonym: "dermatofibroma" EXACT [CSP2005:2004-1029, DOID:4418, NCIT:C6801]
synonym: "dermatofibroma NOS" RELATED EXCLUDE [DOID:4418]
synonym: "dermatofibroma, no ICD-O subtype" EXACT [DOID:4418]
synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:4418]
synonym: "DF" RELATED [ONCOTREE:DF]
synonym: "fibrohistiocytic neoplasm" EXACT [DOID:4418, NCIT:C8402]
synonym: "fibrohistiocytic tumor" EXACT [DOID:4418]
synonym: "fibrous histiocytoma of skin" EXACT [NCIT:C6801]
synonym: "fibrous histiocytoma of the skin" EXACT [NCIT:C6801]
synonym: "fibrous xanthoma of skin" EXACT [DOID:4418]
synonym: "pleomorphic fibroma" EXACT [DOID:4418]
synonym: "sclerosing angioma" EXACT [DOID:4418]
synonym: "sclerosing angioma (morphologic abnormality)" EXACT [DOID:4418]
synonym: "sclerosing angioma of skin" EXACT [DOID:4418]
xref: DOID:4418 {source="MONDO:equivalentTo", source="EFO:1000885"}
xref: EFO:1000885 {source="MONDO:equivalentTo"}
xref: ICDO:8832/0 {source="NCIT:C6801"}
xref: NCIT:C6801 {source="MONDO:kboom-pr-0.97/0.71/3.15", source="MONDO:equivalentTo", source="EFO:1000885", source="DOID:4418"}
xref: ONCOTREE:DF {source="MONDO:equivalentTo"}
xref: SCTID:448015002 {source="MONDO:kboom-pr-0.90/0.76/0.52", source="MONDO:equivalentTo", source="DOID:4418"}
xref: UMLS:C0002991 {source="MONDO:equivalentTo", source="NCIT:C6801", source="DOID:4418"}
xref: UMLS:C0346049 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:4418"}
is_a: MONDO:0002300 {source="DOID:4418", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! dermis tumor
is_a: MONDO:0002989 {source="MONDOLEX:0006717", source="NCIT:C6801"} ! benign fibrous histiocytoma
property_value: closeMatch http://identifiers.org/snomedct/134302009
property_value: closeMatch http://identifiers.org/snomedct/189051001
property_value: closeMatch http://identifiers.org/snomedct/254749001
property_value: closeMatch http://identifiers.org/snomedct/254750001
property_value: closeMatch http://identifiers.org/snomedct/254753004
property_value: closeMatch http://identifiers.org/snomedct/302843004
property_value: closeMatch http://identifiers.org/snomedct/403997008
property_value: closeMatch http://identifiers.org/snomedct/403999006
property_value: closeMatch http://identifiers.org/snomedct/427186000
property_value: closeMatch http://identifiers.org/snomedct/72079004
property_value: closeMatch NCIT:C8402
property_value: exactMatch DOID:4418
property_value: exactMatch http://identifiers.org/snomedct/448015002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346049
property_value: exactMatch NCIT:C6801

[Term]
id: MONDO:0006718
name: cutaneous syphilis
def: "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" [MESH:D013591]
synonym: "Treponema pallidum caused skin disease caused by bacterial infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum skin disease caused by bacterial infection" EXACT []
xref: EFO:1000887 {source="MONDO:equivalentTo"}
xref: ICD10:A50.06 {source="EFO:1000887"}
xref: MESH:D013591 {source="MONDO:equivalentTo", source="EFO:1000887", source="MONDO:ontobio"}
is_a: MONDO:0005976 {source="EFO:1000887", source="MESH:D013591", source="MONDO:Redundant"} ! syphilis
is_a: MONDO:0024295 {source="MESH:D013591", source="MONDO:Redundant"} ! skin disease caused by bacterial infection
property_value: closeMatch DOID:5000
property_value: exactMatch http://identifiers.org/mesh/D013591

[Term]
id: MONDO:0006719
name: obsolete cystic lymphangioma
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/395 xsd:string
is_obsolete: true
replaced_by: MONDO:0009761

[Term]
id: MONDO:0006720
name: cystic, mucinous, and serous neoplasm
def: "Neoplasms containing cyst-like formations or producing mucin or serum." [MESH:D018297]
xref: EFO:1000889 {source="MONDO:equivalentTo"}
xref: MESH:D018297 {source="MONDO:equivalentTo", source="EFO:1000889"}
is_a: MONDO:0005626 {source="MESH:D018297"} ! epithelial neoplasm
property_value: closeMatch DOID:164
property_value: closeMatch http://identifiers.org/snomedct/115217007
property_value: exactMatch http://identifiers.org/mesh/D018297

[Term]
id: MONDO:0006721
name: de Quervain disease
def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." [MESH:D053684]
synonym: "radial styloid tenosynovitis" EXACT [DOID:14107, ICD9CM_2006:727.04]
synonym: "tenosynovitis, de Quervain's" EXACT [DOID:14107]
xref: COHD:73300 {source="MONDO:equivalentTo"}
xref: DOID:14107 {source="EFO:1000891", source="MONDO:equivalentTo"}
xref: EFO:1000891 {source="MONDO:equivalentTo"}
xref: ICD10:M65.4 {source="DOID:14107"}
xref: ICD9:727.04 {source="DOID:14107", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D053684 {source="DOID:14107", source="EFO:1000891", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:21794005 {source="DOID:14107", source="MONDO:kboom-pr-1.00/0.84/13.73", source="MONDO:equivalentTo"}
xref: UMLS:C0149870 {source="DOID:14107", source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="DOID:14107"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/123249005
property_value: closeMatch http://identifiers.org/snomedct/154666006
property_value: closeMatch http://identifiers.org/snomedct/156670001
property_value: closeMatch http://identifiers.org/snomedct/190296009
property_value: closeMatch http://identifiers.org/snomedct/202905002
property_value: closeMatch http://identifiers.org/snomedct/268094006
property_value: exactMatch DOID:14107
property_value: exactMatch http://identifiers.org/mesh/D053684
property_value: exactMatch http://identifiers.org/snomedct/21794005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149870

[Term]
id: MONDO:0006722
name: dental fluorosis
def: "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." [NCIT:P378]
synonym: "fluorosis" EXACT [NCIT:C85059]
synonym: "intrinsic enamel discolouration of fluorosis" EXACT [DOID:13711]
synonym: "mottled teeth" EXACT [DOID:13711, ICD9CM_2006:520.3]
synonym: "mottling of enamel" EXACT [DOID:13711, MTHICD9_2006:520.3]
xref: DOID:13711 {source="EFO:1000892", source="MONDO:equivalentTo"}
xref: EFO:1000892 {source="MONDO:equivalentTo"}
xref: ICD10:K00.3 {source="DOID:13711", source="MONDO:equivalentTo"}
xref: ICD9:520.3 {source="DOID:13711"}
xref: MedDRA:10016819 {source="EFO:1000892"}
xref: MESH:D009050 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85059 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:30265004 {source="DOID:13711", source="EFO:1000892", source="MONDO:kboom-pr-0.91/0.77/0.65", source="MONDO:equivalentTo"}
xref: UMLS:C0026618 {source="DOID:13711", source="MONDO:equivalentTo", source="NCIT:C85059"}
is_a: MONDO:0006999 {source="DOID:13711", source="EFO:1000892", source="MESH:D009050", source="NCIT:C85059/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tooth disease
property_value: closeMatch http://identifiers.org/meddra/10016819
property_value: closeMatch http://identifiers.org/snomedct/120541000119103
property_value: exactMatch DOID:13711
property_value: exactMatch http://identifiers.org/mesh/D009050
property_value: exactMatch http://identifiers.org/snomedct/30265004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026618
property_value: exactMatch NCIT:C85059

[Term]
id: MONDO:0006723
name: denture stomatitis
def: "Inflammation of the mouth due to denture irritation." [MESH:D013282]
synonym: "denture sore mouth" EXACT [DOID:11875, MTHICD9_2006:528.9]
xref: DOID:11875 {source="MONDO:equivalentTo", source="EFO:1000893"}
xref: EFO:1000893 {source="MONDO:equivalentTo"}
xref: ICD10:K12.1 {source="DOID:11875"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013282 {source="DOID:11875", source="MONDO:equivalentTo", source="EFO:1000893", source="MONDO:ontobio"}
xref: SCTID:69254008 {source="DOID:11875", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23", source="EFO:1000893"}
xref: UMLS:C0038364 {source="DOID:11875", source="MONDO:equivalentTo"}
is_a: MONDO:0004842 {source="DOID:11875", source="MESH:D013282", source="linkedlifedata"} ! stomatitis
property_value: closeMatch http://identifiers.org/snomedct/196576008
property_value: exactMatch DOID:11875
property_value: exactMatch http://identifiers.org/mesh/D013282
property_value: exactMatch http://identifiers.org/snomedct/69254008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038364

[Term]
id: MONDO:0006724
name: obsolete desmoplastic small round cell tumor
is_obsolete: true
replaced_by: MONDO:0019373

[Term]
id: MONDO:0006725
name: obsolete diabetic angiopathy
is_obsolete: true
replaced_by: MONDO:0000960

[Term]
id: MONDO:0006726
name: diaphragmatic eventration (disease)
def: "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." [NCIT:P378]
synonym: "diaphragmatic eventration" EXACT [MONDO:ambiguous]
xref: DOID:10480 {source="MONDO:equivalentTo", source="EFO:1000898"}
xref: EFO:1000898 {source="MONDO:equivalentTo"}
xref: HP:0009110 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q79.1 {source="DOID:10480"}
xref: MESH:D003965 {source="MONDO:equivalentTo", source="DOID:10480", source="EFO:1000898", source="MONDO:ontobio"}
xref: SCTID:34168003 {source="MONDO:equivalentTo", source="DOID:10480", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000898"}
is_a: MONDO:0005728 {source="DOID:10480", source="linkedlifedata"} ! diaphragm disease
property_value: closeMatch http://identifiers.org/snomedct/157006001
property_value: closeMatch http://identifiers.org/snomedct/268351009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011981
property_value: exactMatch DOID:10480
property_value: exactMatch http://identifiers.org/mesh/D003965
property_value: exactMatch http://identifiers.org/snomedct/34168003
property_value: exactMatch NCIT:C98912

[Term]
id: MONDO:0006727
name: diastolic heart failure
def: "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." [MESH:D054144]
xref: COHD:443587 {source="MONDO:equivalentTo"}
xref: DOID:9775 {source="MONDO:equivalentTo", source="EFO:1000899"}
xref: EFO:1000899 {source="MONDO:equivalentTo"}
xref: ICD10:I50.3 {source="EFO:1000899"}
xref: ICD10:I50.30 {source="DOID:9775"}
xref: ICD9:428.3 {source="EFO:1000899", source="DOID:9775"}
xref: ICD9:428.30 {source="MONDO:equivalentTo", source="i2s", source="DOID:9775"}
xref: MedDRA:10069211 {source="EFO:1000899"}
xref: MESH:D054144 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000899", source="DOID:9775"}
xref: SCTID:418304008 {source="MONDO:equivalentTo", source="EFO:1000899", source="DOID:9775", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1135196 {source="MONDO:equivalentTo", source="DOID:9775"}
is_a: MONDO:0005009 {source="DOID:9775", source="EFO:1000899"} ! congestive heart failure
property_value: closeMatch http://identifiers.org/meddra/10069211
property_value: exactMatch DOID:9775
property_value: exactMatch http://identifiers.org/mesh/D054144
property_value: exactMatch http://identifiers.org/snomedct/418304008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135196

[Term]
id: MONDO:0006728
name: discitis
def: "Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." [MESH:D015299]
synonym: "inflammation of intervertebral disk" EXACT []
synonym: "intervertebral disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10986 {source="MONDO:equivalentTo", source="EFO:1000900"}
xref: EFO:1000900 {source="MONDO:equivalentTo"}
xref: ICD10:M46.4 {source="DOID:10986"}
xref: ICD9:722.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015299 {source="DOID:10986", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000900"}
xref: SCTID:2304001 {source="DOID:10986", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000900"}
xref: UMLS:C0012624 {source="DOID:10986", source="MONDO:equivalentTo"}
is_a: MONDO:0005569 {source="DOID:10986", source="EFO:1000900", source="linkedlifedata", source="linkedlifedata/inferred"} ! cartilage disease
is_a: MONDO:0005578 ! arthritis
is_a: MONDO:0037847 ! vertebral joint disease
property_value: exactMatch DOID:10986
property_value: exactMatch http://identifiers.org/mesh/D015299
property_value: exactMatch http://identifiers.org/snomedct/2304001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012624

[Term]
id: MONDO:0006729
name: discrete subaortic stenosis
def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." [MESH:D021922]
xref: DOID:5804 {source="MONDO:equivalentTo", source="EFO:1000901"}
xref: EFO:1000901 {source="MONDO:equivalentTo"}
xref: MESH:D021922 {source="MONDO:equivalentTo", source="DOID:5804", source="MONDO:ontobio", source="EFO:1000901"}
xref: UMLS:C0012628 {source="MONDO:equivalentTo", source="DOID:5804"}
is_a: MONDO:0006987 {source="DOID:5804", source="EFO:1000901", source="MESH:D021922"} ! subvalvular aortic stenosis
property_value: exactMatch DOID:5804
property_value: exactMatch http://identifiers.org/mesh/D021922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012628

[Term]
id: MONDO:0006730
name: drug psychosis
def: "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." [MESH:D011605]
synonym: "drug-induced psychosis" EXACT [DOID:1742]
synonym: "drug-induced psychotic disorder" EXACT [DOID:1742, ICD9CM_2006:292.1]
xref: DOID:1742 {source="MONDO:equivalentTo", source="EFO:1000902"}
xref: EFO:1000902 {source="MONDO:equivalentTo"}
xref: ICD9:292.1 {source="DOID:1742"}
xref: MedDRA:10045855 {source="EFO:1000902"}
xref: MESH:D011605 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902"}
xref: SCTID:191483003 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001423 {source="DOID:1742", source="MONDO:Redundant"} ! drug-induced mental disorder
is_a: MONDO:0005485 ! psychotic disorder
property_value: closeMatch http://identifiers.org/meddra/10045855
property_value: closeMatch http://identifiers.org/snomedct/154855001
property_value: closeMatch http://identifiers.org/snomedct/191498001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033937
property_value: exactMatch DOID:1742
property_value: exactMatch http://identifiers.org/mesh/D011605
property_value: exactMatch http://identifiers.org/snomedct/191483003

[Term]
id: MONDO:0006731
name: drug-induced akathisia
def: "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." [NCIT:P378]
xref: EFO:1000903 {source="MONDO:equivalentTo"}
xref: ICD10:G25.71 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001540 {source="EFO:1000903"}
xref: MESH:D017109 {source="EFO:1000903", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:230333002 {source="EFO:1000903", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005071 {source="EFO:1000903", source="ICD10:G25.71/inferred", source="MESH:D017109/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: closeMatch DOID:4263
property_value: closeMatch http://identifiers.org/meddra/10001540
property_value: exactMatch http://identifiers.org/mesh/D017109
property_value: exactMatch http://identifiers.org/snomedct/230333002
property_value: exactMatch NCIT:C78163

[Term]
id: MONDO:0006732
name: drug-induced dyskinesia
def: "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" [MESH:D004409]
xref: COHD:373185 {source="MONDO:equivalentTo"}
xref: EFO:1000904 {source="MONDO:equivalentTo"}
xref: GARD:0008236 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10013916 {source="EFO:1000904"}
xref: MESH:D004409 {source="EFO:1000904", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:102448004 {source="EFO:1000904", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005071 {source="EFO:1000904", source="MESH:D004409/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: closeMatch DOID:4478
property_value: closeMatch http://identifiers.org/meddra/10013916
property_value: exactMatch http://identifiers.org/mesh/D004409
property_value: exactMatch http://identifiers.org/snomedct/102448004

[Term]
id: MONDO:0006733
name: dry eye syndrome
def: "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." [NCIT:C34553]
synonym: "dry eye" EXACT [NCIT:C34553]
synonym: "dry eye syndrome" EXACT [NCIT:C34553]
synonym: "dry eye(s)" EXACT [NCIT:C34553]
synonym: "eye(s), dry" EXACT [NCIT:C34553]
synonym: "KCS" EXACT [CSP2005:1114-9026, DOID:12895]
synonym: "keratoconjunctivitis sicca" EXACT [DOID:12895, EFO:1001001, MESH:D007638, NCIT:C34553]
synonym: "sicca, keratoconjunctivitis" EXACT [MESH:D007638]
synonym: "tear film insufficiency" EXACT [DOID:10140]
xref: COHD:378427 {source="MONDO:equivalentTo"}
xref: DOID:10140 {source="EFO:1000906", source="MONDO:equivalentTo"}
xref: DOID:12895 {source="EFO:1001001", source="MONDO:equivalentTo"}
xref: EFO:1000906 {source="MONDO:equivalentTo"}
xref: EFO:1001001 {source="MONDO:equivalentTo"}
xref: ICD10:H04.12 {source="DOID:10140"}
xref: ICD9:375.15 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10013777 {source="EFO:1000906"}
xref: MedDRA:100233350 {source="EFO:1001001"}
xref: MESH:D007638 {source="EFO:1001001", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12895"}
xref: MESH:D015352 {source="EFO:1000906", source="MONDO:equivalentTo", source="DOID:10140", source="MONDO:ontobio"}
xref: NCIT:C34553 {source="MONDO:subClassOf", source="EFO:1000906", source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:10140"}
xref: SCTID:302896008 {source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:12895"}
xref: SCTID:46152009 {source="MONDO:equivalentTo", source="DOID:10140", source="MONDO:kboom-pr-0.94/0.83/0.93"}
xref: UMLS:C0013238 {source="MONDO:equivalentTo", source="DOID:10140", source="NCIT:C34553"}
xref: UMLS:C0022575 {source="MONDO:equivalentTo", source="DOID:12895"}
is_a: MONDO:0001854 {source="DOID:10140"} ! lacrimal apparatus disease
is_a: MONDO:0002254 {source="MONDOLEX:0006733", source="NCIT:C34553"} ! syndromic disease
is_a: MONDO:0004768 {source="MESH:D007638", source="MONDOLEX:0006818", source="linkedlifedata"} ! keratoconjunctivitis
property_value: closeMatch http://identifiers.org/meddra/10013777
property_value: closeMatch http://identifiers.org/meddra/100233350
property_value: closeMatch http://identifiers.org/snomedct/155182003
property_value: closeMatch http://identifiers.org/snomedct/156455009
property_value: closeMatch http://identifiers.org/snomedct/193980001
property_value: closeMatch http://identifiers.org/snomedct/201444003
property_value: closeMatch http://identifiers.org/snomedct/268050000
property_value: closeMatch http://identifiers.org/snomedct/78946008
property_value: exactMatch DOID:10140
property_value: exactMatch DOID:12895
property_value: exactMatch http://identifiers.org/mesh/D007638
property_value: exactMatch http://identifiers.org/mesh/D015352
property_value: exactMatch http://identifiers.org/snomedct/302896008
property_value: exactMatch http://identifiers.org/snomedct/46152009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022575
property_value: exactMatch NCIT:C34553

[Term]
id: MONDO:0006734
name: benign duodenal neoplasm
alt_id: MONDO:0021504
def: "A non-metastasizing neoplasm arising from the wall of the duodenum." [NCIT:C4775]
synonym: "benign duodenal neoplasm" EXACT [NCIT:C4775]
synonym: "benign duodenal tumor" EXACT [NCIT:C4775]
synonym: "benign neoplasm of duodenum" EXACT [NCIT:C4775]
synonym: "benign neoplasm of the duodenum" EXACT [NCIT:C4775]
synonym: "benign tumor of duodenum" EXACT [NCIT:C4775]
synonym: "benign tumor of the duodenum" EXACT [NCIT:C4775]
synonym: "duodenal benign neoplasm" RELATED [DOID:1737]
synonym: "duodenum benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasm of duodenum" EXACT EXCLUDE [DOID:1737]
synonym: "neoplasm of the duodenum" EXACT [DOID:1737, NCIT:C2995]
xref: DOID:1737 {source="EFO:1000907", source="MONDO:equivalentTo"}
xref: EFO:1000907 {source="MONDO:equivalentTo"}
xref: MedDRA:10004251 {source="EFO:1000907"}
xref: NCIT:C4775 {source="EFO:1000907", source="MONDO:equivalentTo"}
xref: SCTID:92080005 {source="MONDO:equivalentTo"}
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C4775", source="linkedlifedata"} ! tumor of duodenum
is_a: MONDO:0021501 {source="MONDO:Redundant", source="NCIT:C4775", source="linkedlifedata"} ! benign neoplasm of small intestine
property_value: closeMatch http://identifiers.org/meddra/10004251
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013291
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496869
property_value: exactMatch DOID:1737
property_value: exactMatch http://identifiers.org/snomedct/92080005
property_value: exactMatch NCIT:C4775

[Term]
id: MONDO:0006735
name: duodenogastric reflux
def: "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." [MESH:D004383]
synonym: "duodenogastric reflux (finding)" EXACT [DOID:4071]
xref: DOID:4071 {source="MONDO:equivalentTo", source="EFO:1000909"}
xref: EFO:1000909 {source="MONDO:equivalentTo"}
xref: MedDRA:10060865 {source="EFO:1000909"}
xref: MESH:D004383 {source="MONDO:equivalentTo", source="EFO:1000909", source="DOID:4071", source="MONDO:ontobio"}
xref: UMLS:C0013299 {source="MONDO:equivalentTo", source="DOID:4071"}
is_a: MONDO:0002866 {source="DOID:4071", source="MESH:D004383"} ! duodenal disease
is_a: MONDO:0007186 {source="EFO:1000909"} ! gastroesophageal reflux disease
property_value: closeMatch http://identifiers.org/meddra/10060865
property_value: closeMatch http://identifiers.org/snomedct/9733003
property_value: exactMatch DOID:4071
property_value: exactMatch http://identifiers.org/mesh/D004383
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013299

[Term]
id: MONDO:0006736
name: dysplasia of cervix
def: "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." [MESH:D002578]
xref: COHD:192367 {source="MONDO:equivalentTo"}
xref: EFO:1000910 {source="MONDO:equivalentTo"}
xref: ICD10:N87 {source="EFO:1000910"}
xref: ICD9:622.1 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:622.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:622.11 {source="EFO:1000910"}
xref: MedDRA:10013957 {source="EFO:1000910"}
xref: MESH:D002578 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000910"}
xref: SCTID:73391008 {source="MONDO:equivalentTo", source="EFO:1000910", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0007868 {source="MONDO:equivalentTo"}
is_a: MONDO:0005039 {source="EFO:1000910", source="linkedlifedata/inferred"} ! reproductive system disease
property_value: closeMatch DOID:8586
property_value: closeMatch http://identifiers.org/meddra/10013957
property_value: exactMatch http://identifiers.org/mesh/D002578
property_value: exactMatch http://identifiers.org/snomedct/73391008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007868

[Term]
id: MONDO:0006737
name: dystocia
def: "Slow or difficult obstetric labor or childbirth." [MESH:D004420]
xref: EFO:1000911 {source="MONDO:equivalentTo"}
xref: MESH:D004420 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000911"}
is_a: MONDO:0024575 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1000911"} ! reproductive system disease
property_value: closeMatch DOID:8494
property_value: exactMatch http://identifiers.org/mesh/D004420

[Term]
id: MONDO:0006738
name: eccrine acrospiroma
def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250]
subset: gard_rare
synonym: "acrospiroma, eccrine" RELATED [MESH:D018250]
synonym: "acrospiromas" RELATED [MESH:D018250]
synonym: "acrospiromas, eccrine" RELATED [MESH:D018250]
synonym: "clear cell Hidradrenoma" RELATED [MESH:D018250]
synonym: "clear-cell Hidradrenoma" RELATED [MESH:D018250]
synonym: "clear-cell Hidradrenomas" RELATED [MESH:D018250]
synonym: "eccrine acrospiroma" EXACT [DOID:5442, GARD:0005726, MESH:D018250]
synonym: "eccrine Acrospiromas" RELATED [MESH:D018250]
synonym: "eccrine hidradenoma" EXACT [DOID:5442]
synonym: "eccrine hidradenoma of skin" EXACT [DOID:5442]
synonym: "eccrine poroma" EXACT [NCIT:C27273]
synonym: "hidradenoma" RELATED [GARD:0005726, MESH:D018250]
synonym: "hidradenoma, solid-cystic" RELATED [MESH:D018250]
synonym: "Hidradenomas" RELATED [MESH:D018250]
synonym: "Hidradenomas, solid-cystic" RELATED [MESH:D018250]
synonym: "Hidradrenoma, clear-cell" RELATED [MESH:D018250]
synonym: "Hidradrenoma, nodular" RELATED [MESH:D018250]
synonym: "Hidradrenomas, clear-cell" RELATED [MESH:D018250]
synonym: "Hidradrenomas, nodular" RELATED [MESH:D018250]
synonym: "nodular Hidradrenoma" RELATED [MESH:D018250]
synonym: "nodular Hidradrenomas" RELATED [MESH:D018250]
synonym: "poroma" EXACT [DOID:5442]
synonym: "poroma (acrospiroma)" EXACT [DOID:5442, NCIT:C27273]
synonym: "poroma/acrospiroma" RELATED [ONCOTREE:PORO]
synonym: "solid cystic hidradenoma" RELATED [MESH:D018250]
synonym: "solid-cystic hidradenoma" RELATED [MESH:D018250]
synonym: "solid-cystic Hidradenomas" RELATED [MESH:D018250]
xref: DOID:5442 {source="MONDO:equivalentTo", source="EFO:1000912"}
xref: EFO:1000912 {source="MONDO:equivalentTo"}
xref: GARD:0005726 {source="MONDO:equivalentTo"}
xref: MESH:D018250 {source="DOID:5442", source="MONDO:equivalentTo", source="EFO:1000912"}
xref: NCIT:C27273 {source="MONDO:equivalentTo", source="ONCOTREE:PORO"}
xref: ONCOTREE:PORO {source="MONDO:equivalentTo"}
xref: SCTID:400099008 {source="DOID:5442", source="MONDO:kboom-pr-0.72/0.42/0.07", source="MONDO:equivalentTo"}
is_a: MONDO:0021489 {source="NCIT:C27273"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0005506 {source="EFO:1000912"} ! eccrine sweat gland cancer
property_value: closeMatch http://identifiers.org/snomedct/254719003
property_value: closeMatch http://identifiers.org/snomedct/81143000
property_value: closeMatch http://identifiers.org/snomedct/81393009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206671
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1533161
property_value: exactMatch DOID:5442
property_value: exactMatch http://identifiers.org/mesh/D018250
property_value: exactMatch http://identifiers.org/snomedct/400099008
property_value: exactMatch NCIT:C27273

[Term]
id: MONDO:0006739
name: Ehrlich tumor carcinoma
def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286]
synonym: "Ehrlich's tumor" EXACT [CSP2005:2000-2080, DOID:5050]
xref: DOID:5050 {source="MONDO:equivalentTo", source="EFO:1000913"}
xref: EFO:1000913 {source="MONDO:equivalentTo"}
xref: MESH:D002286 {source="MONDO:equivalentTo", source="DOID:5050", source="MONDO:ontobio", source="EFO:1000913"}
xref: UMLS:C0007125 {source="MONDO:equivalentTo", source="DOID:5050"}
is_a: MONDO:0004989 {source="DOID:5050", source="EFO:1000913"} ! breast carcinoma
property_value: exactMatch DOID:5050
property_value: exactMatch http://identifiers.org/mesh/D002286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007125

[Term]
id: MONDO:0006740
name: empty sella syndrome
def: "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland . There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome]
subset: gard_rare {source="GARD:0006331"}
synonym: "empty sella" EXACT [NCIT:C84686]
synonym: "empty sella syndrome" EXACT [DOID:3642]
synonym: "empty sella turcica" RELATED [GARD:0006331]
xref: DOID:3642 {source="EFO:1000914", source="MONDO:equivalentTo"}
xref: EFO:1000914 {source="MONDO:equivalentTo"}
xref: GARD:0006331 {source="MONDO:equivalentTo"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10014567 {source="EFO:1000914"}
xref: MESH:D004652 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84686 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:237722004 {source="MONDO:kboom-pr-1.00/0.91/26.44", source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"}
xref: UMLS:C0014008 {source="DOID:3642", source="MONDO:equivalentTo", source="NCIT:C84686"}
is_a: MONDO:0002254 {source="MONDOLEX:0006740", source="NCIT:C84686"} ! syndromic disease
is_a: MONDO:0003381 {source="DOID:3642", source="MESH:D004652"} ! pituitary gland disease
property_value: closeMatch http://identifiers.org/meddra/10014567
property_value: closeMatch http://identifiers.org/snomedct/190489005
property_value: closeMatch http://identifiers.org/snomedct/393569006
property_value: exactMatch DOID:3642
property_value: exactMatch http://identifiers.org/mesh/D004652
property_value: exactMatch http://identifiers.org/snomedct/237722004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014008
property_value: exactMatch NCIT:C84686
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome xsd:anyURI {source="GARD:0006331"}

[Term]
id: MONDO:0006741
name: encephalomalacia
def: "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." [NCIT:P378]
xref: DOID:2034 {source="EFO:1000915", source="MONDO:equivalentTo"}
xref: EFO:1000915 {source="MONDO:equivalentTo"}
xref: MedDRA:10051818 {source="EFO:1000915"}
xref: MESH:D004678 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98920 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:58762006 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014068 {source="DOID:2034", source="MONDO:equivalentTo", source="NCIT:C98920"}
is_a: MONDO:0005560 {source="DOID:2034", source="EFO:1000915", source="MESH:D004678", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
property_value: closeMatch http://identifiers.org/meddra/10051818
property_value: exactMatch DOID:2034
property_value: exactMatch http://identifiers.org/mesh/D004678
property_value: exactMatch http://identifiers.org/snomedct/58762006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014068
property_value: exactMatch NCIT:C98920

[Term]
id: MONDO:0006742
name: endemic goiter
def: "thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." [NCIT:P378]
synonym: "iodine-deficiency-related endemic goitre" EXACT [DOID:13198]
synonym: "simple goiter" EXACT [NCIT:C35023]
synonym: "simple goitre" EXACT [DOID:13198]
xref: DOID:13198 {source="EFO:1000916", source="MONDO:equivalentTo"}
xref: EFO:1000916 {source="MONDO:equivalentTo"}
xref: ICD10:E01.0 {source="DOID:13198"}
xref: ICD10:E01.2 {source="DOID:13198"}
xref: ICD9:240.0 {source="MONDO:relatedTo", source="DOID:13198"}
xref: MedDRA:10068848 {source="EFO:1000916"}
xref: MESH:D006043 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198", source="MONDO:ontobio"}
xref: NCIT:C35023 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198", source="MONDO:kboom-pr-0.93/0.79/0.92"}
xref: SCTID:56805008 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005397 {source="DOID:13198", source="EFO:1000916", source="MESH:D006043", source="MONDO:Redundant", source="NCIT:C35023", source="linkedlifedata"} ! goiter (disease)
is_a: MONDO:0006873 {source="DOID:13198", source="MONDO:Redundant"} ! nutritional deficiency disease
intersection_of: MONDO:0005397 ! goiter (disease)
intersection_of: MONDO:0006873 ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/meddra/10068848
property_value: closeMatch http://identifiers.org/snomedct/190234009
property_value: closeMatch http://identifiers.org/snomedct/190316007
property_value: closeMatch http://identifiers.org/snomedct/190319000
property_value: closeMatch http://identifiers.org/snomedct/191043000
property_value: closeMatch http://identifiers.org/snomedct/271949009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018022
property_value: exactMatch DOID:13198
property_value: exactMatch http://identifiers.org/mesh/D006043
property_value: exactMatch http://identifiers.org/snomedct/56805008
property_value: exactMatch NCIT:C35023

[Term]
id: MONDO:0006743
name: endocrine tuberculosis
def: "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." [MESH:D014383]
xref: EFO:1000917 {source="MONDO:equivalentTo"}
xref: MESH:D014383 {source="EFO:1000917", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0041310 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 ! endocrine system disease
is_a: MONDO:0018076 {source="EFO:1000917", source="MESH:D014383", source="MONDO:Redundant"} ! tuberculosis
property_value: closeMatch DOID:14041
property_value: exactMatch http://identifiers.org/mesh/D014383
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041310

[Term]
id: MONDO:0006744
name: endolymphatic hydrops
def: "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." [MESH:D018159]
synonym: "labyrinthine hydrops" EXACT [CSP2005:0977-6437, DOID:9848]
xref: DOID:9848 {source="EFO:1000918", source="MONDO:equivalentTo"}
xref: EFO:1000918 {source="MONDO:equivalentTo"}
xref: ICD10:H81.0 {source="DOID:9848"}
xref: ICD9:386.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049934 {source="EFO:1000918"}
xref: MESH:D018159 {source="EFO:1000918", source="MONDO:equivalentTo", source="DOID:9848", source="MONDO:ontobio"}
xref: SCTID:27621000119100 {source="MONDO:equivalentTo", source="DOID:9848", source="MONDO:kboom-pr-0.89/0.75/0.30"}
xref: UMLS:C0206586 {source="MONDO:equivalentTo", source="DOID:9848"}
is_a: MONDO:0004900 {source="DOID:9848"} ! peripheral vertigo
property_value: closeMatch http://identifiers.org/meddra/10049934
property_value: closeMatch http://identifiers.org/snomedct/194346003
property_value: closeMatch http://identifiers.org/snomedct/70831000119103
property_value: closeMatch http://identifiers.org/snomedct/9794007
property_value: exactMatch DOID:9848
property_value: exactMatch http://identifiers.org/mesh/D018159
property_value: exactMatch http://identifiers.org/snomedct/27621000119100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206586

[Term]
id: MONDO:0006745
name: endometrioid stromal sarcoma
def: "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." [NCIT:C8973]
subset: gard_rare {source="GARD:0006339"}
subset: ordo_disease {source="Orphanet:213711"}
synonym: "endometrial stromal sarcoma" EXACT [MESH:D018203, NCIT:C8973]
synonym: "endometrial stromal sarcoma, high grade" EXACT [DOID:4226]
synonym: "endometrial stromal sarcomas" EXACT [MESH:D018203]
synonym: "endometrioid stromal sarcoma" EXACT [NCIT:C8973]
synonym: "ess" EXACT [DOID:4226, NCIT:C8973, ONCOTREE:ESS]
synonym: "sarcomas, endometrial stromal" EXACT [MESH:D018203]
synonym: "stromal sarcoma of the corpus uteri" EXACT [Orphanet:213711]
synonym: "stromal sarcoma, endometrial" EXACT [MESH:D018203]
synonym: "stromal sarcoma, endometrial, malignant" EXACT [NCIT:C8973]
synonym: "stromal sarcomas, endometrial" EXACT [MESH:D018203]
synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972]
xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"}
xref: EFO:1000919 {source="MONDO:equivalentTo"}
xref: GARD:0006339 {source="MONDO:equivalentTo"}
xref: ICD10:C54.1 {source="Orphanet:213711", source="ORDO:213711/ntbt"}
xref: ICDO:8930/3 {source="NCIT:C8973"}
xref: MedDRA:10048397 {source="EFO:1000919"}
xref: MedDRA:10057649 {source="Orphanet:213711", source="ORDO:213711/e"}
xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8973 {source="DOID:4226", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:ESS {source="MONDO:equivalentTo"}
xref: Orphanet:213711 {source="MONDO:equivalentTo"}
xref: SCTID:699356008 {source="DOID:4226", source="EFO:1000919", source="MONDO:kboom-pr-0.90/0.75/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0206630 {source="DOID:4226", source="NCIT:C8973", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo"}
xref: UMLS:C2239246 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003311 {source="DOID:4226", source="MESH:D018203", source="linkedlifedata"} ! endometrial stromal tumor
is_a: MONDO:0005089 {source="EFO:1000919", source="MESH:D018203/inferred", source="NCIT:C8973/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma
is_a: MONDO:0011962 ! endometrial cancer
relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213711"} ! obsolete rare cancer of corpus uteri
property_value: closeMatch http://identifiers.org/meddra/10048397
property_value: closeMatch http://identifiers.org/snomedct/70555003
property_value: exactMatch DOID:4226
property_value: exactMatch http://identifiers.org/meddra/10057649
property_value: exactMatch http://identifiers.org/mesh/D018203
property_value: exactMatch http://identifiers.org/snomedct/699356008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2239246
property_value: exactMatch NCIT:C8973
property_value: exactMatch Orphanet:213711
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma xsd:anyURI {source="GARD:0006339"}

[Term]
id: MONDO:0006746
name: endomyocardial fibrosis
def: "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." [NCIT:C34585]
subset: gard_rare {source="GARD:0006340"}
synonym: "African endomyocardial fibrosis" EXACT [DOID:12932]
synonym: "endomyocardial sclerosis" EXACT [DOID:12932]
synonym: "obscure African cardiomyopathy" EXACT [DOID:12932]
xref: COHD:439399 {source="MONDO:equivalentTo"}
xref: DOID:12932 {source="MONDO:equivalentTo", source="EFO:1000921"}
xref: EFO:1000921 {source="MONDO:equivalentTo"}
xref: GARD:0006340 {source="MONDO:equivalentTo"}
xref: ICD9:425.0 {source="DOID:12932"}
xref: MedDRA:10014800 {source="EFO:1000921"}
xref: MESH:D004719 {source="DOID:12932", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000921"}
xref: NCIT:C34585 {source="DOID:12932", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000921"}
is_a: MONDO:0005201 {source="DOID:12932", source="EFO:1000921"} ! restrictive cardiomyopathy
property_value: closeMatch http://identifiers.org/meddra/10014800
property_value: closeMatch http://identifiers.org/snomedct/111507009
property_value: closeMatch http://identifiers.org/snomedct/123264005
property_value: closeMatch http://identifiers.org/snomedct/155351008
property_value: closeMatch http://identifiers.org/snomedct/266301006
property_value: closeMatch http://identifiers.org/snomedct/30293000
property_value: closeMatch http://identifiers.org/snomedct/398716006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0553980
property_value: exactMatch DOID:12932
property_value: exactMatch http://identifiers.org/mesh/D004719
property_value: exactMatch NCIT:C34585
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis xsd:anyURI {source="GARD:0006340"}

[Term]
id: MONDO:0006747
name: enterotoxemia
def: "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [MESH:D004767]
xref: EFO:1000922 {source="MONDO:equivalentTo"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004767 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000922"}
xref: SCTID:370514003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000922"}
xref: UMLS:C0014371 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:1000922", source="MESH:D004767"} ! non-human animal disease
property_value: closeMatch DOID:3583
property_value: exactMatch http://identifiers.org/mesh/D004767
property_value: exactMatch http://identifiers.org/snomedct/370514003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014371

[Term]
id: MONDO:0006748
name: epilepsia partialis continua
def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036]
xref: COHD:374023 {source="MONDO:equivalentTo"}
xref: EFO:1000924 {source="MONDO:equivalentTo"}
xref: ICD9:345.7 {source="EFO:1000924"}
xref: ICD9:345.70 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10015034 {source="EFO:1000924"}
xref: MESH:D017036 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000924"}
xref: SCTID:241006 {source="MONDO:equivalentTo", source="EFO:1000924", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005027 {source="EFO:1000924", source="MESH:D017036/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy
property_value: closeMatch DOID:11349
property_value: closeMatch http://identifiers.org/meddra/10015034
property_value: exactMatch http://identifiers.org/mesh/D017036
property_value: exactMatch http://identifiers.org/snomedct/241006

[Term]
id: MONDO:0006749
name: mixed epithelioid and spindle cell melanoma
def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." [NCIT:C66756]
synonym: "mixed epithelioid and spindle cell melanoma" EXACT [NCIT:C66756]
xref: EFO:1000925 {source="MONDO:equivalentTo"}
xref: ICDO:8770/3 {source="NCIT:C66756"}
xref: MESH:D018332 {source="EFO:1000925", source="MONDO:equivalentTo"}
xref: NCIT:C66756 {source="EFO:1000925", source="MONDO:equivalentTo"}
xref: SCTID:254811006 {source="EFO:1000925", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
is_a: MONDO:0005105 {source="NCIT:C66756"} ! melanoma (disease)
relationship: excluded_subClassOf MONDO:0005073 {source="EFO:1000925", source="MESH:D018332/inferred", source="linkedlifedata"} ! melanocytic nevus
property_value: closeMatch DOID:2413
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334442
property_value: exactMatch http://identifiers.org/mesh/D018332
property_value: exactMatch http://identifiers.org/snomedct/254811006
property_value: exactMatch NCIT:C66756

[Term]
id: MONDO:0006750
name: obsolete Erdheim-Chester disease
is_obsolete: true
replaced_by: MONDO:0018153

[Term]
id: MONDO:0006751
name: Erysipelothrix infectious disease
def: "Infections with bacteria of the genus erysipelothrix." [MESH:D004889]
synonym: "Erysipelothrix caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Erysipelothrix disease or disorder" EXACT []
synonym: "Erysipelothrix infection" RELATED [MESH:D004889]
synonym: "infection, Erysipelothrix" RELATED [MESH:D004889]
synonym: "infections, Erysipelothrix" RELATED [MESH:D004889]
xref: EFO:1000927 {source="MONDO:equivalentTo"}
xref: MESH:D004889 {source="EFO:1000927", source="MONDO:equivalentTo"}
xref: SCTID:367434002 {source="MONDO:equivalentTo"}
xref: UMLS:C0014736 {source="MONDO:equivalentTo"}
is_a: MONDO:0021679 {source="MESH:D004889", source="linkedlifedata"} ! gram-positive bacterial infections
property_value: closeMatch DOID:2470
property_value: exactMatch http://identifiers.org/mesh/D004889
property_value: exactMatch http://identifiers.org/snomedct/367434002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014736

[Term]
id: MONDO:0006752
name: Erysipelothrix rhusiopathiae infectious disease
def: "A disease caused by infection with Erysipelothrix rhusiopathiae." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Erysipelothrix rhusiopathiae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Erysipelothrix rhusiopathiae disease or disorder" EXACT []
xref: EFO:1000928 {source="MONDO:equivalentTo"}
is_a: MONDO:0006751 ! Erysipelothrix infectious disease
property_value: closeMatch DOID:2471

[Term]
id: MONDO:0006753
name: Escherichia coli meningitis
def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [MESH:D020814]
xref: EFO:1000929 {source="MONDO:equivalentTo"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:320.82 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020814 {source="EFO:1000929", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:192655005 {source="EFO:1000929", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338395 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006670 {source="EFO:1000929", source="MESH:D020814", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis
property_value: closeMatch DOID:11578
property_value: exactMatch http://identifiers.org/mesh/D020814
property_value: exactMatch http://identifiers.org/snomedct/192655005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338395

[Term]
id: MONDO:0006754
name: esophageal diverticulosis
def: "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." [MESH:D045723]
xref: DOID:13185 {source="MONDO:equivalentTo", source="EFO:1000930"}
xref: EFO:1000930 {source="MONDO:equivalentTo"}
xref: MESH:D045723 {source="DOID:13185", source="MONDO:equivalentTo", source="EFO:1000930", source="MONDO:ontobio"}
xref: UMLS:C0917875 {source="DOID:13185", source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="DOID:13185", source="MESH:D045723"} ! esophageal disease
property_value: exactMatch DOID:13185
property_value: exactMatch http://identifiers.org/mesh/D045723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917875

[Term]
id: MONDO:0006755
name: euthyroid sick syndrome
def: "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." [NCIT:P378]
synonym: "euthyroid sick syndrome" EXACT [DOID:2856, ICD9CM_2006:790.94]
synonym: "sick euthyroid syndrome" EXACT [NCIT:C113170]
synonym: "sick-euthyroid syndrome" EXACT [DOID:2856]
xref: COHD:137991 {source="MONDO:equivalentTo"}
xref: DOID:2856 {source="MONDO:equivalentTo", source="EFO:1000931"}
xref: EFO:1000931 {source="MONDO:equivalentTo"}
xref: ICD10:E07.81 {source="MONDO:equivalentTo", source="DOID:2856"}
xref: ICD9:790.94 {source="MONDO:equivalentTo", source="i2s", source="EFO:1000931", source="DOID:2856"}
xref: MedDRA:10015549 {source="EFO:1000931"}
xref: MESH:D005067 {source="MONDO:equivalentTo", source="EFO:1000931", source="DOID:2856", source="MONDO:ontobio"}
xref: NCIT:C113170 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000931", source="DOID:2856"}
xref: SCTID:237542005 {source="MONDO:equivalentTo", source="DOID:2856", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0015190 {source="MONDO:equivalentTo", source="DOID:2856", source="NCIT:C113170"}
is_a: MONDO:0002254 {source="MONDOLEX:0006755", source="NCIT:C113170"} ! syndromic disease
is_a: MONDO:0003240 {source="DOID:2856", source="EFO:1000931", source="ICD10:E07.81/inferred", source="MESH:D005067", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch http://identifiers.org/meddra/10015549
property_value: exactMatch DOID:2856
property_value: exactMatch http://identifiers.org/mesh/D005067
property_value: exactMatch http://identifiers.org/snomedct/237542005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015190
property_value: exactMatch NCIT:C113170

[Term]
id: MONDO:0006756
name: obsolete extracutaneous mastocytoma
is_obsolete: true
replaced_by: MONDO:0019025

[Term]
id: MONDO:0006757
name: extrahepatic cholestasis
def: "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." [NCIT:P378]
synonym: "cholestasis of extrahepatic bile duct" EXACT [MONDO:design_pattern]
synonym: "extrahepatic bile duct cholestasis" EXACT [MONDO:patterns/location]
synonym: "extrahepatic biliary stasis" EXACT [DOID:13619, NCIT:C34420]
synonym: "extrahepatic cholestasis (finding)" EXACT [DOID:13619]
synonym: "extrahepatic obstructive biliary disease" EXACT [DOID:13619]
xref: DOID:13619 {source="MONDO:equivalentTo", source="EFO:1000933"}
xref: EFO:1000933 {source="MONDO:equivalentTo"}
xref: MedDRA:10008637 {source="EFO:1000933"}
xref: MESH:D001651 {source="DOID:13619", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000933"}
xref: SCTID:8262006 {source="DOID:13619", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0005398 {source="DOID:13619", source="MONDO:equivalentTo"}
is_a: MONDO:0001751 {source="DOID:13619", source="MESH:D001651", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! cholestasis
is_a: MONDO:0006322 {source="EFO:1000933"} ! non-neoplastic bile duct disorder
property_value: closeMatch http://identifiers.org/meddra/10008637
property_value: closeMatch http://identifiers.org/snomedct/20719006
property_value: exactMatch DOID:13619
property_value: exactMatch http://identifiers.org/mesh/D001651
property_value: exactMatch http://identifiers.org/snomedct/8262006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005398
property_value: exactMatch NCIT:C34420

[Term]
id: MONDO:0006758
name: female genital tuberculosis
def: "mycobacterium infections of the female reproductive tract (genitalia, female)." [MESH:D014384]
xref: EFO:1000935 {source="MONDO:equivalentTo"}
xref: MedDRA:10061150 {source="EFO:1000935"}
xref: MESH:D014384 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000935"}
xref: SCTID:74181004 {source="MONDO:equivalentTo", source="EFO:1000935"}
is_a: MONDO:0005039 {source="EFO:1000935", source="linkedlifedata/inferred"} ! reproductive system disease
property_value: closeMatch DOID:13175
property_value: closeMatch http://identifiers.org/meddra/10061150
property_value: exactMatch http://identifiers.org/mesh/D014384
property_value: exactMatch http://identifiers.org/snomedct/74181004

[Term]
id: MONDO:0006759
name: femoral neuropathy
def: "Neuropathy of the femoral nerve." [NCIT:P378]
synonym: "femoral nerve dysfunction" EXACT [DOID:4196]
synonym: "femoral nerve lesions" EXACT [DOID:4196]
synonym: "femoral nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nerve lesion of femoral nerve" EXACT [MONDO:design_pattern]
xref: COHD:439807 {source="MONDO:equivalentTo"}
xref: DOID:4196 {source="EFO:1000936", source="MONDO:equivalentTo"}
xref: EFO:1000936 {source="MONDO:equivalentTo"}
xref: ICD10:G57.2 {source="DOID:4196"}
xref: ICD10:G57.20 {source="DOID:4196"}
xref: ICD9:355.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020428 {source="EFO:1000936", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4196"}
xref: NCIT:C27595 {source="EFO:1000936", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4196"}
xref: SCTID:25690000 {source="EFO:1000936", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.04", source="DOID:4196"}
xref: UMLS:C0751931 {source="NCIT:C27595", source="MONDO:equivalentTo", source="DOID:4196"}
is_a: MONDO:0001397 {source="DOID:4196", source="MESH:D020428"} ! mononeuropathy
is_a: MONDO:0024334 ! peripheral nerve lesion
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/193146000
property_value: exactMatch DOID:4196
property_value: exactMatch http://identifiers.org/mesh/D020428
property_value: exactMatch http://identifiers.org/snomedct/25690000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751931
property_value: exactMatch NCIT:C27595

[Term]
id: MONDO:0006760
name: fetal erythroblastosis
def: "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." [NCIT:P378]
synonym: "EF - erythroblastosis foetalis" EXACT [DOID:1098]
synonym: "erythroblastosis fetalis" EXACT [CSP2005:0441-2309, DOID:1098]
synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [DOID:1098]
synonym: "HDFN" EXACT [NCIT:C101304]
synonym: "hemolytic disease of the fetus or newborn" EXACT [NCIT:C101304]
synonym: "hemolytic disease of the newborn" EXACT [NCIT:C101304]
synonym: "isoimmune hemolytic disease of the newborn" EXACT [NCIT:C101304]
synonym: "rhesus isoimmunisation of the newborn" EXACT [DOID:1098]
xref: DOID:1098 {source="EFO:1000937", source="MONDO:equivalentTo"}
xref: EFO:1000937 {source="MONDO:equivalentTo"}
xref: ICD10:P55 {source="DOID:1098"}
xref: ICD10:P55.9 {source="DOID:1098"}
xref: ICD9:773 {source="DOID:1098"}
xref: ICD9:773.2 {source="DOID:1098", source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004899 {source="DOID:1098", source="EFO:1000937", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C101304 {source="DOID:1098", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:387705004 {source="DOID:1098", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
xref: UMLS:C0014761 {source="DOID:1098", source="MONDO:equivalentTo", source="NCIT:C101304"}
is_a: MONDO:0001245 {source="DOID:1098", source="linkedlifedata"} ! microcytic anemia
property_value: closeMatch http://identifiers.org/snomedct/111468003
property_value: closeMatch http://identifiers.org/snomedct/123307003
property_value: closeMatch http://identifiers.org/snomedct/157130001
property_value: closeMatch http://identifiers.org/snomedct/206429000
property_value: closeMatch http://identifiers.org/snomedct/206430005
property_value: closeMatch http://identifiers.org/snomedct/206431009
property_value: closeMatch http://identifiers.org/snomedct/206436004
property_value: closeMatch http://identifiers.org/snomedct/25121006
property_value: closeMatch http://identifiers.org/snomedct/268878003
property_value: closeMatch http://identifiers.org/snomedct/276577009
property_value: closeMatch http://identifiers.org/snomedct/33130007
property_value: exactMatch DOID:1098
property_value: exactMatch http://identifiers.org/mesh/D004899
property_value: exactMatch http://identifiers.org/snomedct/387705004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014761
property_value: exactMatch NCIT:C101304

[Term]
id: MONDO:0006761
name: fibromuscular dysplasia
def: "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." [NCIT:P378]
synonym: "fibromuscular dysplasia of arteries" EXACT [OMIM:135580]
synonym: "fibromuscular dysplasia; FMDA" EXACT [OMIM:135580]
synonym: "FMDA" EXACT [OMIM:135580]
xref: EFO:1000938 {source="MONDO:equivalentTo"}
xref: MedDRA:10054794 {source="EFO:1000938"}
xref: MESH:C537929 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:D005352 {source="EFO:1000938", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84714 {source="EFO:1000938", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:135580 {source="MONDO:equivalentTo"}
xref: UMLS:C1851111 {source="OMIM:135580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! arterial disorder
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:1000938", source="MESH:D005352/inferred"} ! cardiovascular disease
property_value: closeMatch DOID:2389
property_value: closeMatch http://identifiers.org/meddra/10054794
property_value: closeMatch http://identifiers.org/snomedct/31653004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016052
property_value: closeMatch Orphanet:336
property_value: exactMatch http://identifiers.org/mesh/C537929
property_value: exactMatch http://identifiers.org/mesh/D005352
property_value: exactMatch http://identifiers.org/omim/135580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851111
property_value: exactMatch NCIT:C84714

[Term]
id: MONDO:0006762
name: freemartinism
def: "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." [MESH:D005611]
xref: DOID:4671 {source="EFO:1000939", source="MONDO:equivalentTo"}
xref: EFO:1000939 {source="MONDO:equivalentTo"}
xref: MESH:D005611 {source="EFO:1000939", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4671"}
xref: UMLS:C0016697 {source="MONDO:equivalentTo", source="DOID:4671"}
is_a: MONDO:0017975 {source="MESH:D005611"} ! sex chromosome disorder of sex development
is_a: MONDO:0024913 {source="MESH:D005611"} ! cattle disease
property_value: exactMatch DOID:4671
property_value: exactMatch http://identifiers.org/mesh/D005611
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016697

[Term]
id: MONDO:0006763
name: frozen shoulder
def: "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [EFO:1000941]
synonym: "adhesions-capsulitis,shoulder" EXACT [DOID:14188]
synonym: "adhesive capsulitis of shoulder" EXACT [DOID:14188, ICD9CM_2006:726.0]
xref: DOID:14188 {source="MONDO:equivalentTo", source="EFO:1000941"}
xref: EFO:1000941 {source="MONDO:equivalentTo"}
xref: ICD10:M75.0 {source="MONDO:equivalentTo", source="DOID:14188"}
xref: ICD9:726.0 {source="MONDO:equivalentTo", source="DOID:14188", source="i2s"}
xref: MedDRA:10017391 {source="EFO:1000941"}
xref: SCTID:399114005 {source="MONDO:equivalentTo", source="DOID:14188", source="EFO:1000941", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0311223 {source="MONDO:equivalentTo", source="DOID:14188"}
is_a: MONDO:0003900 {source="DOID:14188"} ! connective tissue disease
is_a: MONDO:0005218 {source="EFO:1000941"} ! muscular disease
property_value: closeMatch http://identifiers.org/meddra/10017391
property_value: closeMatch http://identifiers.org/snomedct/156658000
property_value: closeMatch http://identifiers.org/snomedct/156664007
property_value: closeMatch http://identifiers.org/snomedct/202837002
property_value: closeMatch http://identifiers.org/snomedct/202847004
property_value: closeMatch http://identifiers.org/snomedct/268087008
property_value: closeMatch http://identifiers.org/snomedct/8753005
property_value: exactMatch DOID:14188
property_value: exactMatch http://identifiers.org/snomedct/399114005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311223

[Term]
id: MONDO:0006764
name: fungal meningitis
def: "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." [MESH:D016921]
synonym: "Fungi caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi infectious meningitis" EXACT []
xref: COHD:432602 {source="MONDO:equivalentTo"}
xref: DOID:11608 {source="MONDO:equivalentTo", source="EFO:1000942"}
xref: EFO:1000942 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:321.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10017538 {source="EFO:1000942"}
xref: MESH:D016921 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942", source="MONDO:ontobio"}
xref: SCTID:24321005 {source="MONDO:equivalentTo", source="DOID:11608", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000942"}
xref: UMLS:C0085438 {source="MONDO:equivalentTo", source="DOID:11608"}
is_a: MONDO:0002041 ! fungal infectious disease
is_a: MONDO:0004796 {source="DOID:11608", source="EFO:1000942", source="MESH:D016921", source="MONDO:Redundant", source="linkedlifedata"} ! infectious meningitis
property_value: closeMatch http://identifiers.org/meddra/10017538
property_value: exactMatch DOID:11608
property_value: exactMatch http://identifiers.org/mesh/D016921
property_value: exactMatch http://identifiers.org/snomedct/24321005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085438

[Term]
id: MONDO:0006765
name: Fusobacterium infectious disease
def: "Infections with bacteria of the genus fusobacterium." [MESH:D005674]
synonym: "Fusobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusobacterium disease or disorder" EXACT []
synonym: "infection caused by Fusobacterium" RELATED []
synonym: "infection due to Fusobacterium" EXACT []
xref: EFO:1000943 {source="MONDO:equivalentTo"}
xref: ICD9:041.84 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:712657002 {source="MONDO:equivalentTo"}
xref: UMLS:C4039413 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006925 ! Fusobacteriaceae infectious disease
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: closeMatch DOID:3758
property_value: closeMatch http://identifiers.org/mesh/D005674
property_value: exactMatch http://identifiers.org/snomedct/712657002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4039413

[Term]
id: MONDO:0006766
name: gait apraxia
def: "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." [MESH:D020235]
synonym: "Gait apraxia (finding)" EXACT [DOID:4260]
xref: DOID:4260 {source="MONDO:equivalentTo", source="EFO:1000944"}
xref: EFO:1000944 {source="MONDO:equivalentTo"}
xref: MedDRA:10070635 {source="EFO:1000944"}
xref: MESH:D020235 {source="MONDO:equivalentTo", source="DOID:4260", source="MONDO:ontobio", source="EFO:1000944"}
xref: UMLS:C1510417 {source="MONDO:equivalentTo", source="DOID:4260"}
is_a: MONDO:0000665 {source="DOID:4260", source="MESH:D020235"} ! apraxia
property_value: closeMatch http://identifiers.org/meddra/10070635
property_value: closeMatch http://identifiers.org/snomedct/30767006
property_value: exactMatch DOID:4260
property_value: exactMatch http://identifiers.org/mesh/D020235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510417

[Term]
id: MONDO:0006767
name: gastric antral vascular ectasia
def: "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." [NCIT:P378]
synonym: "gave" EXACT [https://en.wikipedia.org/wiki/Gastric_antral_vascular_ectasia]
synonym: "watermelon stomach" EXACT []
xref: DOID:2493 {source="MONDO:equivalentTo", source="EFO:1000945"}
xref: EFO:1000945 {source="MONDO:equivalentTo"}
xref: GARD:0007877 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MedDRA:10051585 {source="EFO:1000945"}
xref: MESH:D020252 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2493", source="EFO:1000945"}
xref: NCIT:C84724 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2493", source="EFO:1000945"}
xref: SCTID:43935004 {source="MONDO:equivalentTo", source="DOID:2493"}
is_a: MONDO:0001574 {source="DOID:2493"} ! capillary disease
is_a: MONDO:0021658 {source="MONDO:cjm"} ! vascular ectasia
property_value: closeMatch http://identifiers.org/meddra/10051585
property_value: closeMatch http://identifiers.org/snomedct/412795008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267211
property_value: exactMatch DOID:2493
property_value: exactMatch http://identifiers.org/mesh/D020252
property_value: exactMatch http://identifiers.org/snomedct/43935004
property_value: exactMatch NCIT:C84724

[Term]
id: MONDO:0006768
name: obsolete gastric outlet obstruction
def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966]
is_obsolete: true
replaced_by: MONDO:0001561

[Term]
id: MONDO:0006769
name: gastroparesis (disease)
def: "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." [NCIT:P378]
synonym: "gastric atonia" EXACT [DOID:11914]
synonym: "gastroparalysis" EXACT [DOID:11914, MTHICD9_2006:536.3]
synonym: "gastroparesis" EXACT [MONDO:ambiguous]
synonym: "gastroparesis syndrome" EXACT [DOID:11914]
xref: COHD:195847 {source="MONDO:equivalentTo"}
xref: DOID:11914 {source="EFO:1000948", source="MONDO:equivalentTo"}
xref: EFO:1000948 {source="MONDO:equivalentTo"}
xref: HP:0002578 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K31.84 {source="DOID:11914", source="MONDO:equivalentTo"}
xref: ICD9:536.3 {source="DOID:11914"}
xref: MedDRA:10018043 {source="EFO:1000948"}
xref: MESH:D018589 {source="EFO:1000948", source="DOID:11914", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:196753007 {source="DOID:11914", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0152020 {source="DOID:11914", source="MONDO:equivalentTo"}
is_a: MONDO:0001318 {source="DOID:11914", source="linkedlifedata"} ! functional gastric disease
property_value: closeMatch http://identifiers.org/meddra/10018043
property_value: closeMatch http://identifiers.org/snomedct/235675006
property_value: closeMatch http://identifiers.org/snomedct/77164002
property_value: exactMatch DOID:11914
property_value: exactMatch http://identifiers.org/mesh/D018589
property_value: exactMatch http://identifiers.org/snomedct/196753007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152020
property_value: exactMatch NCIT:C80512

[Term]
id: MONDO:0006770
name: giant cell reparative granuloma
def: "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." [NCIT:C121893]
synonym: "central giant cell (reparative) granuloma" EXACT [DOID:1866, ICD9CM_2006:526.3]
synonym: "central giant cell granuloma" EXACT [DOID:1866, MTHICD9_2006:526.3]
synonym: "central giant cell reparative granuloma of jaw" EXACT [DOID:1866]
synonym: "GCLSB" EXACT [NCIT:C121893]
synonym: "giant cell lesion of small bones" EXACT [NCIT:C121893]
xref: DOID:1866 {source="MONDO:equivalentTo", source="EFO:1000950"}
xref: EFO:1000950 {source="MONDO:equivalentTo"}
xref: ICD10:M27.1 {source="DOID:1866"}
xref: ICD9:526.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:1866"}
xref: MESH:D006101 {source="MONDO:equivalentTo", source="EFO:1000950", source="DOID:1866", source="MONDO:ontobio"}
xref: NCIT:C121893 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:15350006 {source="MONDO:equivalentTo", source="DOID:1866", source="MONDO:kboom-pr-1.00/0.91/28.00"}
xref: UMLS:C0162375 {source="MONDO:equivalentTo", source="DOID:1866", source="NCIT:C121893"}
is_a: MONDO:0005674 {source="DOID:1866", source="EFO:1000950"} ! bone giant cell tumor
property_value: exactMatch DOID:1866
property_value: exactMatch http://identifiers.org/mesh/D006101
property_value: exactMatch http://identifiers.org/snomedct/15350006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162375
property_value: exactMatch NCIT:C121893

[Term]
id: MONDO:0006771
name: glossitis
def: "Inflammation of the tongue." [NCIT:P378]
synonym: "inflammation of tongue" EXACT []
synonym: "tongue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:436147 {source="MONDO:equivalentTo"}
xref: DOID:1456 {source="MONDO:equivalentTo", source="EFO:1000951"}
xref: EFO:1000951 {source="MONDO:equivalentTo"}
xref: ICD10:K14.0 {source="DOID:1456", source="MONDO:equivalentTo"}
xref: ICD9:529.0 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951", source="i2s"}
xref: MedDRA:10018386 {source="EFO:1000951"}
xref: MESH:D005928 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951", source="MONDO:ontobio"}
xref: SCTID:45534005 {source="DOID:1456", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000951"}
xref: UMLS:C0017675 {source="DOID:1456", source="MONDO:equivalentTo"}
is_a: MONDO:0001165 {source="DOID:1456", source="MESH:D005928", source="MONDO:Redundant", source="linkedlifedata"} ! tongue disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10018386
property_value: closeMatch http://identifiers.org/snomedct/155666003
property_value: closeMatch http://identifiers.org/snomedct/196583001
property_value: exactMatch DOID:1456
property_value: exactMatch http://identifiers.org/mesh/D005928
property_value: exactMatch http://identifiers.org/snomedct/45534005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017675
property_value: exactMatch NCIT:C112199

[Term]
id: MONDO:0006772
name: glycogen storage disease VIII
def: "An X-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." [MESH:D006015]
subset: gard_rare
synonym: "glycogen storage disease 8" RELATED [GARD:0006538]
synonym: "glycogen storage disease type VIII" EXACT [DOID:2751, EFO:1000952, MONDORULE:3]
synonym: "glycogen storage disease VIII" EXACT [GARD:0006538]
synonym: "glycogenosis type 8" RELATED [GARD:0006538]
synonym: "glycogenosis type VIII" EXACT [CSP2005:1849-4178, DOID:2751]
synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT [DOID:2751]
synonym: "hepatic phosphorylase kinase deficiency" RELATED [GARD:0006538]
synonym: "phosphorylase kinase deficiency of liver" RELATED [GARD:0006538]
synonym: "PYKL" RELATED [GARD:0006538]
xref: DOID:2751 {source="MONDO:equivalentTo", source="EFO:1000952"}
xref: EFO:1000952 {source="MONDO:equivalentTo"}
xref: GARD:0006538 {source="MONDO:equivalentTo"}
xref: MedDRA:10053242 {source="EFO:1000952"}
xref: MESH:D006015 {source="DOID:2751", source="MONDO:equivalentTo", source="EFO:1000952", source="MONDO:ontobio"}
xref: SCTID:41527003 {source="DOID:2751", source="MONDO:kboom-pr-0.93/0.85/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0017927 {source="MEDGEN:kboom-pr98-c99", source="DOID:2751", source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="DOID:2751", source="DOID:2751/inferred", source="EFO:1000952", source="MESH:D006015", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
property_value: closeMatch http://identifiers.org/meddra/10053242
property_value: closeMatch http://identifiers.org/snomedct/297255007
property_value: exactMatch DOID:2751
property_value: exactMatch http://identifiers.org/mesh/D006015
property_value: exactMatch http://identifiers.org/snomedct/41527003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017927
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8 xsd:anyURI {source="GARD:0006538"}

[Term]
id: MONDO:0006773
name: gonadal tissue neoplasm
def: "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." [MESH:D018309]
xref: EFO:1000953 {source="MONDO:equivalentTo"}
xref: MESH:D018309 {source="MONDO:equivalentTo", source="EFO:1000953", source="MONDO:ontobio"}
xref: UMLS:C0206722 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006054 {source="EFO:1000953"} ! reproductive system neoplasm
property_value: closeMatch DOID:194
property_value: closeMatch http://identifiers.org/snomedct/115221000
property_value: exactMatch http://identifiers.org/mesh/D018309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206722

[Term]
id: MONDO:0006774
name: habitual spontaneous abortion
def: "Three or more consecutive spontaneous abortions." [MESH:D000026]
xref: EFO:1000954 {source="MONDO:equivalentTo"}
xref: ICD10:N96 {source="EFO:1000954"}
xref: MedDRA:10062935 {source="EFO:1000954"}
xref: MESH:D000026 {source="MONDO:equivalentTo", source="EFO:1000954"}
xref: SCTID:102878001 {source="MONDO:equivalentTo", source="EFO:1000954"}
is_a: MONDO:0005039 {source="EFO:1000954", source="EFO:1000954/inferred"} ! reproductive system disease
property_value: closeMatch DOID:11946
property_value: closeMatch http://identifiers.org/meddra/10062935
property_value: exactMatch http://identifiers.org/mesh/D000026
property_value: exactMatch http://identifiers.org/snomedct/102878001

[Term]
id: MONDO:0006775
name: obsolete haemophilus influenzae meningitis
is_obsolete: true
replaced_by: MONDO:0000889

[Term]
id: MONDO:0006776
name: obsolete hairy cell leukemia
is_obsolete: true
replaced_by: MONDO:0018935

[Term]
id: MONDO:0006777
name: hairy tongue
def: "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." [NCIT:P378]
synonym: "hairy tongue" EXACT [DOID:13500, MESH:D014064, NCIT:C35075]
synonym: "hairy Tongues" RELATED [MESH:D014064]
synonym: "overgrowth of filiform papillae" EXACT [DOID:13500]
synonym: "Tongues, hairy" RELATED [MESH:D014064]
xref: DOID:13500 {source="MONDO:equivalentTo", source="EFO:1000957"}
xref: EFO:1000957 {source="MONDO:equivalentTo"}
xref: ICD9:529.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043960 {source="EFO:1000957"}
xref: MESH:D014064 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000957", source="DOID:13500"}
xref: NCIT:C35075 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:1000957", source="DOID:13500"}
xref: SCTID:255225007 {source="MONDO:kboom-pr-0.92/0.83/0.17", source="MONDO:equivalentTo", source="DOID:13500"}
xref: UMLS:C0040414 {source="NCIT:C35075", source="MONDO:equivalentTo", source="DOID:13500"}
is_a: MONDO:0001165 {source="DOID:13500", source="MESH:D014064", source="linkedlifedata"} ! tongue disease
property_value: closeMatch http://identifiers.org/meddra/10043960
property_value: closeMatch http://identifiers.org/snomedct/81934005
property_value: exactMatch DOID:13500
property_value: exactMatch http://identifiers.org/mesh/D014064
property_value: exactMatch http://identifiers.org/snomedct/255225007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040414
property_value: exactMatch NCIT:C35075

[Term]
id: MONDO:0006778
name: halo nevus
def: "A benign melanocytic nevus with a halo appearance." [NCIT:C7602]
subset: gard_rare {source="GARD:0009421"}
synonym: "halo nevi" EXACT [MONDO:0009322, OMIM:234300]
synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [OMIM:234300]
xref: EFO:1000958 {source="MONDO:equivalentTo"}
xref: GARD:0009421 {source="MONDO:equivalentTo"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8723/0 {source="NCIT:C7602"}
xref: MedDRA:10062794 {source="EFO:1000958"}
xref: MESH:D055882 {source="EFO:1000958", source="MONDO:equivalentTo"}
xref: NCIT:C7602 {source="EFO:1000958", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:398028009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0474824 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234300", source="NCIT:C7602"}
is_a: MONDO:0005073 {source="EFO:1000958", source="MESH:D055882", source="NCIT:C7602/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus
relationship: excluded_subClassOf MONDO:0003847 {source="MONDO:0009322", source="OMIM:234300"} ! Mendelian disease
property_value: closeMatch DOID:2423
property_value: closeMatch http://identifiers.org/meddra/10062794
property_value: closeMatch http://identifiers.org/snomedct/78325005
property_value: exactMatch http://identifiers.org/mesh/D055882
property_value: exactMatch http://identifiers.org/snomedct/398028009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474824
property_value: exactMatch NCIT:C7602
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9421/halo-nevi xsd:anyURI {source="GARD:0009421"}

[Term]
id: MONDO:0006779
name: heart aneurysm
def: "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." [MESH:D006322]
synonym: "cardiac aneurysm" EXACT [CSP2005:1393-3252, DOID:9768]
xref: DOID:9768 {source="EFO:1000959", source="MONDO:equivalentTo"}
xref: EFO:1000959 {source="MONDO:equivalentTo"}
xref: ICD10:I25.3 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo"}
xref: ICD9:414.10 {source="EFO:1000959", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:414.19 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10002350 {source="EFO:1000959"}
xref: MESH:D006322 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:65340007 {source="DOID:9768", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20"}
xref: UMLS:C0018789 {source="DOID:9768", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:9768", source="EFO:1000959", source="MESH:D006322", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease
property_value: closeMatch http://identifiers.org/meddra/10002350
property_value: closeMatch http://identifiers.org/snomedct/155317009
property_value: closeMatch http://identifiers.org/snomedct/194847002
property_value: exactMatch DOID:9768
property_value: exactMatch http://identifiers.org/mesh/D006322
property_value: exactMatch http://identifiers.org/snomedct/65340007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018789

[Term]
id: MONDO:0006780
name: heartwater disease
def: "A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium." [MESH:D006357]
synonym: "disease, heartwater" RELATED [MESH:D006357]
xref: EFO:1000960 {source="MONDO:equivalentTo"}
xref: MESH:D006357 {source="EFO:1000960", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C0018835 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D006357"} ! non-human animal disease
is_a: MONDO:0016003 {source="MESH:D006357"} ! ehrlichiosis
property_value: closeMatch DOID:14090
property_value: exactMatch http://identifiers.org/mesh/D006357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018835

[Term]
id: MONDO:0006781
name: Helicobacter pylori infectious disease
def: "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." [MESH:D016481]
synonym: "Helicobacter infection" RELATED [MESH:D016481]
synonym: "Helicobacter pylori caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Helicobacter pylori disease or disorder" EXACT []
synonym: "Helicobacter pylori infection, susceptibility to" RELATED [MESH:D016481]
synonym: "infection, Helicobacter" RELATED [MESH:D016481]
synonym: "infections, Helicobacter" RELATED [MESH:D016481]
xref: EFO:1000961 {source="MONDO:equivalentTo"}
xref: MESH:D016481 {source="MONDO:equivalentTo", source="EFO:1000961"}
is_a: MONDO:0021678 {source="MESH:D016481"} ! gram-negative bacterial infections
property_value: closeMatch DOID:3686
property_value: exactMatch http://identifiers.org/mesh/D016481

[Term]
id: MONDO:0006782
name: hemometra
def: "Blood-filled uterus." [MESH:D006409]
synonym: "hematometra" EXACT [DOID:9958, ICD9CM_2006:621.4]
xref: COHD:195876 {source="MONDO:equivalentTo"}
xref: DOID:9958 {source="MONDO:equivalentTo", source="EFO:1000962"}
xref: EFO:1000962 {source="MONDO:equivalentTo"}
xref: ICD10:N85.7 {source="MONDO:equivalentTo", source="DOID:9958"}
xref: ICD9:621.4 {source="MONDO:equivalentTo", source="DOID:9958", source="i2s"}
xref: MESH:D006409 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962", source="MONDO:ontobio"}
xref: SCTID:38280009 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0002654 {source="DOID:9958", source="MESH:D006409", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018948
property_value: exactMatch DOID:9958
property_value: exactMatch http://identifiers.org/mesh/D006409
property_value: exactMatch http://identifiers.org/snomedct/38280009

[Term]
id: MONDO:0006783
name: hemopneumothorax
def: "Collection of air and blood in the pleural cavity." [MESH:D006468]
xref: DOID:2718 {source="MONDO:equivalentTo", source="EFO:1000963"}
xref: EFO:1000963 {source="MONDO:equivalentTo"}
xref: ICD10:J94.2 {source="DOID:2718"}
xref: ICD9:511.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10060632 {source="EFO:1000963"}
xref: MESH:D006468 {source="MONDO:equivalentTo", source="EFO:1000963", source="MONDO:ontobio", source="DOID:2718"}
xref: SCTID:16632002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000963", source="DOID:2718"}
xref: UMLS:C0019077 {source="MONDO:equivalentTo", source="DOID:2718"}
is_a: MONDO:0002076 {source="DOID:2718", source="linkedlifedata"} ! pneumothorax (disease)
property_value: closeMatch http://identifiers.org/meddra/10060632
property_value: exactMatch DOID:2718
property_value: exactMatch http://identifiers.org/mesh/D006468
property_value: exactMatch http://identifiers.org/snomedct/16632002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019077

[Term]
id: MONDO:0006784
name: hemorrhagic disease of newborn
def: "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." [NCIT:C111857]
synonym: "hemorrhagic disease of newborn" EXACT [NCIT:C111857]
synonym: "vitamin K deficiency bleeding in newborn" EXACT [NCIT:C111857]
xref: EFO:1000964 {source="MONDO:equivalentTo"}
xref: ICD10:P53 {source="MONDO:equivalentTo", source="EFO:1000964"}
xref: ICD9:776.0 {source="MONDO:relatedTo", source="i2s", source="EFO:1000964"}
xref: MedDRA:10019601 {source="EFO:1000964"}
xref: MESH:D006475 {source="MONDO:equivalentTo", source="EFO:1000964", source="MONDO:ontobio"}
xref: NCIT:C111857 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000964"}
xref: SCTID:12546009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0001531 ! blood coagulation disease
is_a: MONDO:0005137 {source="EFO:1000964", source="MESH:D006475/inferred"} ! nutritional disorder
property_value: closeMatch DOID:11248
property_value: closeMatch http://identifiers.org/meddra/10019601
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019088
property_value: exactMatch http://identifiers.org/mesh/D006475
property_value: exactMatch http://identifiers.org/snomedct/12546009
property_value: exactMatch NCIT:C111857

[Term]
id: MONDO:0006785
name: Henoch-Schoenlein purpura
def: "A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy." [NCIT:P378]
synonym: "allergic purpura" EXACT [DOID:11123, ICD9CM_2006:287.0]
synonym: "autoimmune purpura" EXACT [DOID:11123]
synonym: "Henoch-SCh?nlein purpura" EXACT [DOID:11123]
synonym: "Henoch-SCh@nlein purpura" EXACT [DOID:11123]
synonym: "Henoch-Scholein purpura" EXACT [CSP2005:4006-0049, DOID:11123]
synonym: "Henoch-Schonlein purpura" EXACT [DOID:11123, NCIT:C34963]
synonym: "Henoch-SChönlein purpura" EXACT [NCIT:C34963]
synonym: "HSP" EXACT [NCIT:C34963]
synonym: "purpura, autoimmune" EXACT [DOID:11123, MTHICD9_2006:287.0]
synonym: "Schoenlein-Henoch purpura" EXACT [NCIT:C34963]
xref: DOID:11123 {source="MONDO:equivalentTo", source="EFO:1000965"}
xref: EFO:1000965 {source="MONDO:equivalentTo"}
xref: ICD10:D69.0 {source="DOID:11123"}
xref: ICD9:287.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11123"}
xref: MESH:D011695 {source="MONDO:equivalentTo", source="DOID:11123", source="EFO:1000965"}
xref: NCIT:C34963 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo", source="DOID:11123"}
xref: SCTID:191306005 {source="MONDO:kboom-pr-0.79/0.46/0.59", source="MONDO:equivalentTo", source="DOID:11123"}
is_a: MONDO:0006794 {source="DOID:11123", source="linkedlifedata"} ! hypersensitivity vasculitis
property_value: closeMatch http://identifiers.org/snomedct/154823001
property_value: closeMatch http://identifiers.org/snomedct/191305009
property_value: closeMatch http://identifiers.org/snomedct/191308006
property_value: closeMatch http://identifiers.org/snomedct/21148002
property_value: closeMatch http://identifiers.org/snomedct/246074004
property_value: closeMatch http://identifiers.org/snomedct/267565009
property_value: closeMatch http://identifiers.org/snomedct/31912009
property_value: closeMatch http://identifiers.org/snomedct/367437009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034152
property_value: exactMatch DOID:11123
property_value: exactMatch http://identifiers.org/mesh/D011695
property_value: exactMatch http://identifiers.org/snomedct/191306005
property_value: exactMatch NCIT:C34963

[Term]
id: MONDO:0006786
name: hepatic vein thrombosis
def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." [MESH:D006502]
synonym: "Budd-Chiari syndrome" RELATED [DOID:11512]
synonym: "hepatic vein thrombosis" EXACT [DOID:11512]
xref: DOID:11512 {source="MONDO:equivalentTo", source="EFO:1000966"}
xref: EFO:1000966 {source="MONDO:equivalentTo"}
xref: ICD10:I82.0 {source="DOID:11512", source="MONDO:relatedTo"}
xref: ICD9:453.0 {source="MONDO:relatedTo", source="EFO:1000966"}
xref: MedDRA:10006537 {source="EFO:1000966"}
xref: MedDRA:10019713 {source="EFO:1000966"}
xref: SCTID:38739001 {source="DOID:11512", source="MONDO:equivalentTo", source="EFO:1000966", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002405 {source="DOID:11512", source="linkedlifedata", source="linkedlifedata/inferred"} ! hepatic vascular disease
property_value: closeMatch http://identifiers.org/meddra/10019713
property_value: closeMatch http://identifiers.org/snomedct/195436007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019154
property_value: exactMatch DOID:11512
property_value: exactMatch http://identifiers.org/snomedct/38739001

[Term]
id: MONDO:0006787
name: hidrocystoma
def: "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." [NCIT:C3760]
synonym: "apocrine cystadenoma" NARROW [DOID:3893]
synonym: "apocrine/eccrine hidrocystoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "cystadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "eccrine cystadenoma" NARROW [DOID:3893]
synonym: "eccrine hidrocystoma of skin" EXACT [DOID:3893]
synonym: "hidrocystoma" EXACT [NCIT:C3760]
synonym: "hidrocystoma (morphologic abnormality)" EXACT [DOID:3893]
synonym: "Hydrocystoma" EXACT [NCIT:C3760]
xref: DOID:3893 {source="MONDO:equivalentTo", source="EFO:1000967"}
xref: EFO:1000967 {source="MONDO:equivalentTo"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8404/0 {source="NCIT:C3760"}
xref: MedDRA:10059019 {source="EFO:1000967"}
xref: MESH:D018251 {source="DOID:3893", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000967"}
xref: NCIT:C3760 {source="DOID:3893", source="MONDO:equivalentTo", source="EFO:1000967"}
xref: SCTID:254725004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0206672 {source="DOID:3893", source="MONDO:equivalentTo", source="NCIT:C3760"}
is_a: MONDO:0021489 {source="NCIT:C3760", source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl1/"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:3893"} ! apocrine sweat gland neoplasm
property_value: closeMatch http://identifiers.org/meddra/10059019
property_value: closeMatch http://identifiers.org/snomedct/80549000
property_value: exactMatch DOID:3893
property_value: exactMatch http://identifiers.org/mesh/D018251
property_value: exactMatch http://identifiers.org/snomedct/254725004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206672
property_value: exactMatch NCIT:C3760

[Term]
id: MONDO:0006788
name: hydrophthalmos
def: "Abnormal enlargement of the eye" [NCIT:P378]
xref: DOID:11212 {source="MONDO:equivalentTo", source="EFO:1000968"}
xref: EFO:1000968 {source="MONDO:equivalentTo"}
xref: ICD10:Q15.0 {source="DOID:11212"}
xref: ICD9:743.2 {source="DOID:11212"}
xref: ICD9:743.20 {source="DOID:11212"}
xref: MESH:D006871 {source="MONDO:equivalentTo", source="EFO:1000968", source="DOID:11212"}
is_a: MONDO:0000365 {source="DOID:11212"} ! primary congenital glaucoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/13832009
property_value: closeMatch http://identifiers.org/snomedct/156898000
property_value: closeMatch http://identifiers.org/snomedct/204111004
property_value: closeMatch http://identifiers.org/snomedct/204112006
property_value: closeMatch http://identifiers.org/snomedct/204114007
property_value: closeMatch http://identifiers.org/snomedct/204115008
property_value: closeMatch http://identifiers.org/snomedct/204121007
property_value: closeMatch http://identifiers.org/snomedct/392368005
property_value: closeMatch http://identifiers.org/snomedct/392371002
property_value: closeMatch http://identifiers.org/snomedct/413728006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020302
property_value: exactMatch DOID:11212
property_value: exactMatch http://identifiers.org/mesh/D006871

[Term]
id: MONDO:0006789
name: hyperamylasemia
def: "Abnormally high level of amylase in the blood." [NCIT:P378]
xref: EFO:1000969 {source="MONDO:equivalentTo"}
xref: MedDRA:10062777 {source="EFO:1000969"}
xref: MESH:D034321 {source="EFO:1000969", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0005570 {source="EFO:1000969"} ! hematologic disease
property_value: closeMatch DOID:14215
property_value: closeMatch http://identifiers.org/meddra/10062777
property_value: exactMatch http://identifiers.org/mesh/D034321
property_value: exactMatch NCIT:C113755

[Term]
id: MONDO:0006790
name: hypercementosis
def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936]
subset: gard_rare {source="GARD:0006692"}
synonym: "cementation hyperplasia" EXACT [DOID:12733, MTHICD9_2006:521.5]
xref: COHD:442576 {source="MONDO:equivalentTo"}
xref: DOID:12733 {source="MONDO:equivalentTo", source="EFO:1000970"}
xref: EFO:1000970 {source="MONDO:equivalentTo"}
xref: GARD:0006692 {source="MONDO:equivalentTo"}
xref: ICD10:K03.4 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"}
xref: ICD9:521.5 {source="DOID:12733", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10020596 {source="EFO:1000970"}
xref: MESH:D006936 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970", source="MONDO:ontobio"}
xref: SCTID:78537008 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0020441 {source="DOID:12733", source="MONDO:equivalentTo"}
is_a: MONDO:0002220 {source="DOID:12733", source="ICD10:K03.4", source="linkedlifedata"} ! tooth hard tissue disease
property_value: closeMatch http://identifiers.org/meddra/10020596
property_value: exactMatch DOID:12733
property_value: exactMatch http://identifiers.org/mesh/D006936
property_value: exactMatch http://identifiers.org/snomedct/78537008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020441
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6692/hypercementosis xsd:anyURI {source="GARD:0006692"}

[Term]
id: MONDO:0006791
name: hyperemesis gravidarum (disease)
def: "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." [NCIT:P378]
synonym: "hyperemesis gravidarum" EXACT [MONDO:ambiguous]
synonym: "pernicious vomiting of pregnancy" RELATED [MESH:D006939]
synonym: "pregnancy pernicious vomiting" RELATED [MESH:D006939]
xref: EFO:1000971 {source="MONDO:equivalentTo"}
xref: HP:0012188 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10020614 {source="EFO:1000971"}
xref: MESH:D006939 {source="EFO:1000971", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:14094001 {source="EFO:1000971", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0024575 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1000971"} ! reproductive system disease
property_value: closeMatch DOID:9357
property_value: closeMatch http://identifiers.org/meddra/10020614
property_value: exactMatch http://identifiers.org/mesh/D006939
property_value: exactMatch http://identifiers.org/snomedct/14094001
property_value: exactMatch NCIT:C87084

[Term]
id: MONDO:0006792
name: hyperglobulinemic purpura
def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." [MESH:D011694]
xref: DOID:3325 {source="MONDO:equivalentTo", source="EFO:1000972"}
xref: EFO:1000972 {source="MONDO:equivalentTo"}
xref: MESH:D011694 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972", source="MONDO:ontobio"}
xref: SCTID:402852007 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0034151 {source="MONDO:equivalentTo", source="DOID:3325"}
is_a: MONDO:0002610 {source="DOID:3325", source="MESH:D011694", source="linkedlifedata"} ! purpura (disease)
is_a: MONDO:0005093 {source="EFO:1000972", source="linkedlifedata/inferred"} ! skin disease
property_value: exactMatch DOID:3325
property_value: exactMatch http://identifiers.org/mesh/D011694
property_value: exactMatch http://identifiers.org/snomedct/402852007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034151

[Term]
id: MONDO:0006793
name: hyperpituitarism
def: "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." [MESH:D006964]
subset: clingen
xref: COHD:26378 {source="MONDO:equivalentTo"}
xref: DOID:2444 {source="MONDO:equivalentTo", source="EFO:1000973"}
xref: EFO:1000973 {source="MONDO:equivalentTo"}
xref: ICD9:253.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10020716 {source="EFO:1000973"}
xref: MESH:D006964 {source="DOID:2444", source="MONDO:equivalentTo", source="EFO:1000973", source="MONDO:ontobio"}
xref: SCTID:10649000 {source="DOID:2444", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000973"}
xref: UMLS:C0020506 {source="DOID:2444", source="MONDO:equivalentTo"}
is_a: MONDO:0024468 ! anterior pituitary gland disease
property_value: closeMatch http://identifiers.org/meddra/10020716
property_value: closeMatch http://identifiers.org/snomedct/154698000
property_value: closeMatch http://identifiers.org/snomedct/267480001
property_value: exactMatch DOID:2444
property_value: exactMatch http://identifiers.org/mesh/D006964
property_value: exactMatch http://identifiers.org/snomedct/10649000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020506

[Term]
id: MONDO:0006794
name: hypersensitivity vasculitis
def: "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." [NCIT:C82863]
synonym: "leukocytoclastic vasculitis" EXACT [NCIT:C82863]
xref: DOID:9809 {source="MONDO:equivalentTo", source="EFO:1000974"}
xref: EFO:1000974 {source="MONDO:equivalentTo"}
xref: ICD10:D69.0 {source="DOID:9809"}
xref: ICD10:M31.0 {source="DOID:9809"}
xref: ICD9:446.2 {source="DOID:9809"}
xref: ICD9:446.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:9809"}
xref: ICD9:446.29 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10020764 {source="EFO:1000974"}
xref: NCIT:C82863 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:60555002 {source="MONDO:kboom-pr-0.81/0.45/0.95", source="MONDO:equivalentTo", source="DOID:9809"}
is_a: MONDO:0000605 {source="DOID:9809/inferred", source="EFO:1000974"} ! hypersensitivity reaction disease
is_a: MONDO:0018882 {source="MONDO:Redundant", source="NCIT:C82863", source="linkedlifedata"} ! vasculitis
relationship: excluded_subClassOf MONDO:0007004 {source="DOID:9809"} ! type III hypersensitivity disease
property_value: closeMatch http://identifiers.org/meddra/10020764
property_value: closeMatch http://identifiers.org/mesh/D018366
property_value: closeMatch http://identifiers.org/snomedct/195350001
property_value: closeMatch http://identifiers.org/snomedct/195352009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151436
property_value: exactMatch DOID:9809
property_value: exactMatch http://identifiers.org/snomedct/60555002
property_value: exactMatch NCIT:C82863

[Term]
id: MONDO:0006795
name: hypersplenism (disease)
def: "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." [NCIT:P378]
synonym: "hypersplenia" EXACT [DOID:6376, MTHICD9_2006:289.4]
synonym: "hypersplenism" EXACT [MONDO:ambiguous]
xref: COHD:192298 {source="MONDO:equivalentTo"}
xref: DOID:6376 {source="MONDO:equivalentTo", source="EFO:1000975"}
xref: EFO:1000975 {source="MONDO:equivalentTo"}
xref: HP:0001971 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D73.1 {source="MONDO:equivalentTo", source="DOID:6376"}
xref: ICD9:289.4 {source="MONDO:equivalentTo", source="i2s", source="EFO:1000975", source="DOID:6376"}
xref: MedDRA:10020769 {source="EFO:1000975"}
xref: MESH:D006971 {source="MONDO:equivalentTo", source="EFO:1000975", source="MONDO:ontobio", source="DOID:6376"}
xref: NCIT:C34714 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:otherHierarchy", source="EFO:1000975", source="DOID:6376"}
xref: SCTID:58381000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.68/0.31", source="EFO:1000975", source="DOID:6376"}
xref: UMLS:C0020532 {source="MONDO:equivalentTo", source="DOID:6376"}
is_a: MONDO:0002332 {source="DOID:6376", source="ICD10:D73.1", source="MESH:D006971", source="linkedlifedata"} ! splenic disease
property_value: closeMatch http://identifiers.org/meddra/10020769
property_value: closeMatch http://identifiers.org/snomedct/154839008
property_value: closeMatch http://identifiers.org/snomedct/267570002
property_value: exactMatch DOID:6376
property_value: exactMatch http://identifiers.org/mesh/D006971
property_value: exactMatch http://identifiers.org/snomedct/58381000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020532
property_value: exactMatch NCIT:C34714

[Term]
id: MONDO:0006796
name: hypertensive encephalopathy
def: "Encephalopathy resulting from hypertension." [NCIT:P378]
xref: COHD:312938 {source="MONDO:equivalentTo"}
xref: DOID:9427 {source="MONDO:equivalentTo", source="EFO:1000976"}
xref: EFO:1000976 {source="MONDO:equivalentTo"}
xref: ICD10:I67.4 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"}
xref: ICD9:437.2 {source="DOID:9427", source="MONDO:equivalentTo", source="i2s", source="EFO:1000976"}
xref: MedDRA:10020803 {source="EFO:1000976"}
xref: MESH:D020343 {source="DOID:9427", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000976"}
xref: NCIT:C3503 {source="DOID:9427", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1000976"}
xref: SCTID:50490005 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0151620 {source="DOID:9427", source="MONDO:equivalentTo", source="NCIT:C3503"}
is_a: MONDO:0006810 {source="DOID:9427", source="MESH:D020343"} ! intracranial hypertension
intersection_of: MONDO:0005560 ! brain disease
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
relationship: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
relationship: excluded_subClassOf MONDO:0005156 {source="EFO:1000976"} ! encephalomyelitis
property_value: closeMatch http://identifiers.org/meddra/10020803
property_value: closeMatch http://identifiers.org/snomedct/155408008
property_value: closeMatch http://identifiers.org/snomedct/195225002
property_value: exactMatch DOID:9427
property_value: exactMatch http://identifiers.org/mesh/D020343
property_value: exactMatch http://identifiers.org/snomedct/50490005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151620
property_value: exactMatch NCIT:C3503

[Term]
id: MONDO:0006797
name: hypertensive retinopathy
def: "Retinopathy due to hypertension." [NCIT:P378]
xref: COHD:376965 {source="MONDO:equivalentTo"}
xref: DOID:11561 {source="MONDO:equivalentTo", source="EFO:1000977"}
xref: EFO:1000977 {source="MONDO:equivalentTo"}
xref: ICD10:H35.03 {source="DOID:11561"}
xref: ICD9:362.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:11561", source="EFO:1000977"}
xref: MedDRA:10020839 {source="EFO:1000977"}
xref: MESH:D058437 {source="MONDO:equivalentTo", source="DOID:11561", source="MONDO:ontobio", source="EFO:1000977"}
xref: NCIT:C3514 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:11561", source="EFO:1000977"}
xref: SCTID:6962006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11561", source="EFO:1000977"}
xref: UMLS:C0152132 {source="MONDO:equivalentTo", source="DOID:11561", source="NCIT:C3514"}
is_a: MONDO:0005283 {source="DOID:11561", source="EFO:1000977", source="MESH:D058437", source="MONDO:Redundant", source="MONDOLEX:0006797", source="NCIT:C3514", source="linkedlifedata"} ! retinal disease
property_value: closeMatch http://identifiers.org/meddra/10020839
property_value: closeMatch http://identifiers.org/snomedct/155108001
property_value: closeMatch http://identifiers.org/snomedct/193356005
property_value: closeMatch http://identifiers.org/snomedct/193358006
property_value: closeMatch http://identifiers.org/snomedct/421731000
property_value: closeMatch http://identifiers.org/snomedct/422001004
property_value: exactMatch DOID:11561
property_value: exactMatch http://identifiers.org/mesh/D058437
property_value: exactMatch http://identifiers.org/snomedct/6962006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152132
property_value: exactMatch NCIT:C3514

[Term]
id: MONDO:0006798
name: hypervitaminosis A
def: "A symptom complex resulting from ingesting excessive amounts of vitamin A." [MESH:D006986]
synonym: "hypervitaminosis type A" EXACT [DOID:9972, EFO:1000978, MONDORULE:1]
xref: COHD:436941 {source="MONDO:equivalentTo"}
xref: DOID:9972 {source="MONDO:equivalentTo", source="EFO:1000978"}
xref: EFO:1000978 {source="MONDO:equivalentTo"}
xref: ICD10:E67.0 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"}
xref: ICD9:278.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9972", source="EFO:1000978"}
xref: MedDRA:10020916 {source="EFO:1000978"}
xref: MESH:D006986 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9972", source="EFO:1000978"}
xref: SCTID:64559002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.49", source="DOID:9972", source="EFO:1000978"}
xref: UMLS:C0020579 {source="MONDO:equivalentTo", source="DOID:9972"}
is_a: MONDO:0003916 {source="DOID:9972", source="linkedlifedata", source="linkedlifedata/inferred"} ! overnutrition
property_value: closeMatch http://identifiers.org/meddra/10020916
property_value: exactMatch DOID:9972
property_value: exactMatch http://identifiers.org/mesh/D006986
property_value: exactMatch http://identifiers.org/snomedct/64559002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020579

[Term]
id: MONDO:0006799
name: hypothalamic neoplasm
def: "A primary or metastatic neoplasm that affects the hypothalamus." [NCIT:P378]
synonym: "hypothalamic neoplasms" EXACT [NCIT:C3129]
synonym: "hypothalamic tumor" EXACT [NCIT:C3129]
synonym: "hypothalamus neoplasm" EXACT []
synonym: "hypothalamus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129]
synonym: "neoplasm of the hypothalamus" EXACT [DOID:3644, NCIT:C3129]
synonym: "tumor of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129]
synonym: "tumor of the hypothalamus" EXACT [NCIT:C3129]
xref: DOID:3644 {source="MONDO:equivalentTo", source="EFO:1000979"}
xref: EFO:1000979 {source="MONDO:equivalentTo"}
xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="MONDO:ontobio", source="EFO:1000979"}
xref: NCIT:C3129 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:254968009 {source="MONDO:equivalentTo", source="DOID:3644", source="MONDO:kboom-pr-1.00/0.91/28.98"}
xref: UMLS:C0020659 {source="MONDO:equivalentTo", source="DOID:3644", source="NCIT:C3129"}
is_a: MONDO:0002150 {source="MESH:D007029", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! hypothalamic disease
is_a: MONDO:0021211 ! brain neoplasm
relationship: excluded_subClassOf MONDO:0003766 {source="DOID:3644"} ! thalamic cancer
property_value: exactMatch DOID:3644
property_value: exactMatch http://identifiers.org/mesh/D007029
property_value: exactMatch http://identifiers.org/snomedct/254968009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020659
property_value: exactMatch NCIT:C3129

[Term]
id: MONDO:0006800
name: ideomotor apraxia
def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240]
synonym: "classic apraxia" EXACT [DOID:4627]
synonym: "classic apraxia (finding) [ambiguous]" EXACT [DOID:4627]
synonym: "ideomotor dyspraxia" EXACT [DOID:4627]
synonym: "limb-kinetic apraxia" EXACT [DOID:4627]
synonym: "limb-kinetic apraxia (finding)" EXACT [DOID:4627]
synonym: "transcortical apraxia" EXACT [DOID:4627]
synonym: "transcortical apraxia (finding)" EXACT [DOID:4627]
xref: DOID:4627 {source="EFO:1000980", source="MONDO:equivalentTo"}
xref: EFO:1000980 {source="MONDO:equivalentTo"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10021216 {source="EFO:1000980"}
xref: MESH:D020240 {source="EFO:1000980", source="MONDO:equivalentTo", source="DOID:4627", source="MONDO:ontobio"}
xref: SCTID:229706001 {source="MONDO:equivalentTo", source="DOID:4627", source="MONDO:kboom-pr-1.00/0.91/28.52"}
is_a: MONDO:0000665 {source="DOID:4627", source="MESH:D020240"} ! apraxia
property_value: closeMatch http://identifiers.org/meddra/10021216
property_value: closeMatch http://identifiers.org/snomedct/333633007
property_value: closeMatch http://identifiers.org/snomedct/334621009
property_value: closeMatch http://identifiers.org/snomedct/39746003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0234523
property_value: exactMatch DOID:4627
property_value: exactMatch http://identifiers.org/mesh/D020240
property_value: exactMatch http://identifiers.org/snomedct/229706001

[Term]
id: MONDO:0006801
name: ileal neoplasm
alt_id: MONDO:0021376
def: "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378]
synonym: "ileal tumor" EXACT [DOID:10156, NCIT:C3130]
synonym: "ileum neoplasm" EXACT []
synonym: "ileum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ileum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130]
synonym: "neoplasm of the ileum" EXACT [NCIT:C3130]
synonym: "tumor of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130]
synonym: "tumor of the ileum" EXACT [NCIT:C3130]
xref: DOID:10156 {source="MONDO:equivalentTo", source="EFO:1000981"}
xref: EFO:1000981 {source="MONDO:equivalentTo"}
xref: MESH:D007078 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"}
xref: NCIT:C3130 {source="MONDO:equivalentTo", source="EFO:1000981", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:10156"}
xref: SCTID:126835002 {source="MONDO:equivalentTo", source="DOID:10156"}
xref: UMLS:C0020876 {source="NCIT:C3130", source="MONDO:equivalentTo", source="DOID:10156"}
is_a: MONDO:0004251 {source="DOID:10156", source="MONDO:Redundant", source="NCIT:C3130", source="linkedlifedata"} ! small intestine neoplasm
property_value: closeMatch http://identifiers.org/snomedct/254576003
property_value: exactMatch DOID:10156
property_value: exactMatch http://identifiers.org/mesh/D007078
property_value: exactMatch http://identifiers.org/snomedct/126835002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020876
property_value: exactMatch NCIT:C3130

[Term]
id: MONDO:0006802
name: inappropriate ADH syndrome
def: "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:P378]
synonym: "ectopic ADH secretion" EXACT [NCIT:C3988]
synonym: "ectopic antidiuretic hormone secretion" EXACT [NCIT:C3988]
synonym: "inappropriate ADH secretion" EXACT [NCIT:C3988]
synonym: "inappropriate antidiuretic hormone secretion syndrome" EXACT [NCIT:C3988]
synonym: "inappropriate Arginine vasopressin secretion" EXACT [NCIT:C3988]
synonym: "SIADH" EXACT [NCIT:C3988]
synonym: "syndrome of inappropriate antidiuretic hormone" EXACT [NCIT:C3988]
synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT [DOID:3401, NCIT:C3988]
synonym: "syndrome of inappropriate secretion of ADH" EXACT [DOID:3401, MTHICD9_2006:253.6]
synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [DOID:3401]
synonym: "syndrome of inappropriate vasopressin secretion" EXACT [NCIT:C3988]
xref: DOID:3401 {source="EFO:1000982", source="MONDO:equivalentTo"}
xref: EFO:1000982 {source="MONDO:equivalentTo"}
xref: ICD10:E22.2 {source="DOID:3401"}
xref: ICD9:253.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10042818 {source="EFO:1000982"}
xref: MESH:D007177 {source="DOID:3401", source="EFO:1000982", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3988 {source="DOID:3401", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:55004003 {source="DOID:3401", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0021141 {source="DOID:3401", source="MONDO:equivalentTo", source="NCIT:C3988"}
is_a: MONDO:0003381 {source="DOID:3401", source="MESH:D007177", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease
is_a: MONDO:0045072 {source="NCIT:C3988"} ! ectopic hormone secretion syndrome associated with neoplasia
property_value: closeMatch http://identifiers.org/meddra/10042818
property_value: closeMatch http://identifiers.org/snomedct/389983008
property_value: exactMatch DOID:3401
property_value: exactMatch http://identifiers.org/mesh/D007177
property_value: exactMatch http://identifiers.org/snomedct/55004003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021141
property_value: exactMatch NCIT:C3988

[Term]
id: MONDO:0006803
name: inferior myocardial infarction
def: "myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [MESH:D056989]
xref: DOID:5850 {source="MONDO:equivalentTo", source="EFO:1000983"}
xref: EFO:1000983 {source="MONDO:equivalentTo"}
xref: MedDRA:10057546 {source="EFO:1000983"}
xref: MESH:D056989 {source="DOID:5850", source="MONDO:equivalentTo", source="EFO:1000983", source="MONDO:ontobio"}
xref: UMLS:C0340305 {source="DOID:5850", source="MONDO:equivalentTo"}
is_a: MONDO:0005068 {source="DOID:5850", source="EFO:1000983", source="MESH:D056989"} ! myocardial infarction (disease)
property_value: closeMatch http://identifiers.org/meddra/10057546
property_value: closeMatch http://identifiers.org/snomedct/194804002
property_value: exactMatch DOID:5850
property_value: exactMatch http://identifiers.org/mesh/D056989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340305

[Term]
id: MONDO:0006804
name: inflammatory breast carcinoma
def: "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." [NCIT:C4001]
synonym: "breast cancer, inflammatory" RELATED [GARD:0006784]
synonym: "IBC" RELATED [ONCOTREE:IBC]
synonym: "inflammatory breast cancer" EXACT [NCIT:C4001]
synonym: "inflammatory breast carcinoma" EXACT [NCIT:C4001]
synonym: "inflammatory carcinoma of breast" EXACT [NCIT:C4001]
synonym: "inflammatory carcinoma of the breast" EXACT [NCIT:C4001]
synonym: "mastitis Carcinomatosa" EXACT [NCIT:C4001]
synonym: "mastitis carcinomatosa" EXACT [DOID:6263, NCIT:C4001]
xref: DOID:6263 {source="MONDO:equivalentTo", source="EFO:1000984"}
xref: EFO:1000984 {source="MONDO:equivalentTo"}
xref: GARD:0006784 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICDO:8530/3 {source="NCIT:C4001"}
xref: MedDRA:10006205 {source="EFO:1000984"}
xref: MESH:D058922 {source="MONDO:equivalentTo", source="EFO:1000984", source="MONDO:ontobio", source="DOID:6263"}
xref: NCIT:C4001 {source="MONDO:equivalentTo", source="EFO:1000984", source="exact-label-match", source="DOID:6263"}
xref: ONCOTREE:IBC {source="MONDO:equivalentTo"}
xref: SCTID:254840009 {source="MONDO:equivalentTo", source="EFO:1000984", source="DOID:6263", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0278601 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4001", source="MONDO:equivalentTo", source="DOID:6263"}
is_a: MONDO:0004988 {source="DOID:6263", source="EFO:1000984", source="NCIT:C4001"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C4001"} ! invasive breast carcinoma
property_value: closeMatch http://identifiers.org/meddra/10006205
property_value: exactMatch DOID:6263
property_value: exactMatch http://identifiers.org/mesh/D058922
property_value: exactMatch http://identifiers.org/snomedct/254840009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278601
property_value: exactMatch NCIT:C4001

[Term]
id: MONDO:0006805
name: intermediate coronary syndrome
def: "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." [NCIT:P378]
synonym: "angina at rest" EXACT [DOID:8805]
synonym: "anginal chest pain at rest" EXACT [DOID:8805]
synonym: "impending infarction" EXACT [DOID:8805]
synonym: "Preinfarction angina" EXACT [DOID:8805, MTHICD9_2006:411.1]
synonym: "unstable angina" EXACT [DOID:8805, MTH:NOCODE]
synonym: "worsening angina" EXACT [DOID:8805]
xref: DOID:8805 {source="MONDO:equivalentTo", source="EFO:1000985"}
xref: EFO:1000985 {source="MONDO:equivalentTo"}
xref: ICD10:I20.0 {source="MONDO:equivalentTo", source="DOID:8805"}
xref: ICD9:411.1 {source="DOID:8805", source="EFO:1000985"}
xref: MedDRA:10022554 {source="EFO:1000985"}
xref: MESH:D000789 {source="MONDO:equivalentTo", source="DOID:8805", source="EFO:1000985", source="MONDO:ontobio"}
xref: UMLS:C0002965 {source="MONDO:equivalentTo", source="DOID:8805"}
is_a: MONDO:0005010 {source="DOID:8805", source="EFO:1000985", source="EFO:1000985/inferred"} ! coronary artery disease
property_value: closeMatch http://identifiers.org/meddra/10022554
property_value: closeMatch http://identifiers.org/snomedct/155308009
property_value: closeMatch http://identifiers.org/snomedct/155313008
property_value: closeMatch http://identifiers.org/snomedct/155314002
property_value: closeMatch http://identifiers.org/snomedct/194814006
property_value: closeMatch http://identifiers.org/snomedct/194816008
property_value: closeMatch http://identifiers.org/snomedct/194817004
property_value: closeMatch http://identifiers.org/snomedct/194819001
property_value: closeMatch http://identifiers.org/snomedct/233818002
property_value: closeMatch http://identifiers.org/snomedct/233820004
property_value: closeMatch http://identifiers.org/snomedct/25106000
property_value: closeMatch http://identifiers.org/snomedct/4557003
property_value: closeMatch http://identifiers.org/snomedct/59021001
property_value: closeMatch http://identifiers.org/snomedct/64333001
property_value: exactMatch DOID:8805
property_value: exactMatch http://identifiers.org/mesh/D000789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002965
property_value: exactMatch NCIT:C66911

[Term]
id: MONDO:0006806
name: intermediate uveitis (disease)
def: "Inflammation of the pars plana." [NCIT:P378]
subset: ordo_disease {source="Orphanet:279914"}
synonym: "chronic cyclitis" EXACT [DOID:12732]
synonym: "intermediate uveitis" EXACT [MONDO:ambiguous]
synonym: "IU" EXACT [Orphanet:279914]
synonym: "pars planitis" EXACT [NCIT:C35110]
synonym: "peripheral uveoretinitis" EXACT [DOID:12732]
xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"}
xref: EFO:1000986 {source="MONDO:equivalentTo"}
xref: HP:0012124 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H30.2 {source="ORDO:279914/ntbt", source="Orphanet:279914"}
xref: MedDRA:10022557 {source="ORDO:279914/e", source="EFO:1000986", source="Orphanet:279914"}
xref: MESH:D015867 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986", source="MONDO:ontobio"}
xref: NCIT:C35110 {source="DOID:12732", source="MONDO:kboom-pr-0.90/0.68/1.23", source="MONDO:equivalentTo", source="EFO:1000986"}
xref: Orphanet:279914 {source="MONDO:equivalentTo"}
xref: SCTID:314429009 {source="DOID:12732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000986"}
xref: UMLS:C0042166 {source="DOID:12732", source="NCIT:C35110", source="MONDO:equivalentTo", source="ORDO:279914/e", source="Orphanet:279914"}
is_a: MONDO:0020283 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155118006
property_value: closeMatch http://identifiers.org/snomedct/193491003
property_value: closeMatch http://identifiers.org/snomedct/308126005
property_value: closeMatch http://identifiers.org/snomedct/398322000
property_value: exactMatch DOID:12732
property_value: exactMatch http://identifiers.org/meddra/10022557
property_value: exactMatch http://identifiers.org/mesh/D015867
property_value: exactMatch http://identifiers.org/snomedct/314429009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042166
property_value: exactMatch NCIT:C35110
property_value: exactMatch Orphanet:279914

[Term]
id: MONDO:0006807
name: intestinal perforation
def: "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." [NCIT:P378]
synonym: "bowel perforation" EXACT [NCIT:C39611]
synonym: "perforation of intestine" EXACT [DOID:2074, ICD9CM_2006:569.83]
xref: COHD:193242 {source="MONDO:equivalentTo"}
xref: DOID:2074 {source="MONDO:equivalentTo", source="EFO:1000987"}
xref: EFO:1000987 {source="MONDO:equivalentTo"}
xref: ICD10:P78.0 {source="MONDO:superClassOf", source="EFO:1000987"}
xref: ICD9:569.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:2074"}
xref: ICD9:777.6 {source="MONDO:superClassOf", source="EFO:1000987"}
xref: MedDRA:10022694 {source="EFO:1000987"}
xref: MESH:D007416 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000987", source="DOID:2074"}
xref: NCIT:C39611 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000987", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2074"}
xref: SCTID:56905009 {source="MONDO:equivalentTo", source="EFO:1000987", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2074"}
xref: UMLS:C0021845 {source="MONDO:equivalentTo", source="DOID:2074"}
is_a: MONDO:0005020 {source="DOID:2074", source="EFO:1000987", source="MESH:D007416", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/meddra/10022694
property_value: exactMatch DOID:2074
property_value: exactMatch http://identifiers.org/mesh/D007416
property_value: exactMatch http://identifiers.org/snomedct/56905009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021845
property_value: exactMatch NCIT:C39611

[Term]
id: MONDO:0006808
name: intracranial arterial disease
def: "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765]
xref: DOID:13089 {source="EFO:1000990", source="MONDO:equivalentTo"}
xref: EFO:1000990 {source="MONDO:equivalentTo"}
xref: MESH:D020765 {source="EFO:1000990", source="MONDO:equivalentTo", source="DOID:13089", source="MONDO:ontobio"}
xref: UMLS:C0752138 {source="MONDO:equivalentTo", source="DOID:13089"}
is_a: MONDO:0011057 {source="DOID:13089", source="EFO:1000990", source="MESH:D020765"} ! cerebrovascular disorder
property_value: exactMatch DOID:13089
property_value: exactMatch http://identifiers.org/mesh/D020765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752138

[Term]
id: MONDO:0006809
name: intracranial embolism
def: "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." [MESH:D020766]
synonym: "cerebral embolism" EXACT [DOID:4372]
synonym: "cerebral embolism with cerebral infarction" EXACT [DOID:4372]
xref: COHD:375557 {source="MONDO:equivalentTo"}
xref: DOID:4372 {source="EFO:1000991", source="MONDO:equivalentTo"}
xref: EFO:1000991 {source="MONDO:equivalentTo"}
xref: ICD10:I66 {source="DOID:4372"}
xref: ICD9:434.1 {source="DOID:4372"}
xref: ICD9:434.10 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D020766 {source="EFO:1000991", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4372"}
xref: SCTID:75543006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4372"}
is_a: MONDO:0011057 {source="DOID:4372", source="EFO:1000991", source="MESH:D020766/inferred", source="linkedlifedata"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/snomedct/155402009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007780
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752140
property_value: exactMatch DOID:4372
property_value: exactMatch http://identifiers.org/mesh/D020766
property_value: exactMatch http://identifiers.org/snomedct/75543006

[Term]
id: MONDO:0006810
name: intracranial hypertension
def: "A finding characterized by increased cerebrospinal fluid pressure within the skull." [NCIT:P378]
synonym: "raised intracranial pressure" EXACT [DOID:9428]
xref: DOID:9428 {source="MONDO:equivalentTo", source="EFO:1000992"}
xref: EFO:1000992 {source="MONDO:equivalentTo"}
xref: MedDRA:10022764 {source="EFO:1000992"}
xref: MESH:D019586 {source="DOID:9428", source="MONDO:equivalentTo", source="EFO:1000992", source="MONDO:ontobio"}
xref: UMLS:C0151740 {source="DOID:9428", source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="EFO:1000992"} ! hypertensive disorder
is_a: MONDO:0005560 {source="DOID:9428", source="MESH:D019586"} ! brain disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/meddra/10022764
property_value: closeMatch http://identifiers.org/snomedct/155052007
property_value: closeMatch http://identifiers.org/snomedct/267701004
property_value: closeMatch http://identifiers.org/snomedct/271719001
property_value: closeMatch http://identifiers.org/snomedct/28073009
property_value: exactMatch DOID:9428
property_value: exactMatch http://identifiers.org/mesh/D019586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151740
property_value: exactMatch NCIT:C84791

[Term]
id: MONDO:0006811
name: intracranial hypotension
def: "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" [MESH:D019585]
xref: DOID:4723 {source="EFO:1000993", source="MONDO:equivalentTo"}
xref: EFO:1000993 {source="MONDO:equivalentTo"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049977 {source="EFO:1000993"}
xref: MESH:D019585 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"}
xref: SCTID:433691000124104 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0524812 {source="DOID:4723", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:4723", source="EFO:1000993", source="MESH:D019585"} ! brain disease
property_value: closeMatch http://identifiers.org/meddra/10049977
property_value: exactMatch DOID:4723
property_value: exactMatch http://identifiers.org/mesh/D019585
property_value: exactMatch http://identifiers.org/snomedct/433691000124104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524812

[Term]
id: MONDO:0006812
name: intracranial vasospasm
def: "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." [MESH:D020301]
xref: DOID:13100 {source="MONDO:equivalentTo", source="EFO:1000994"}
xref: EFO:1000994 {source="MONDO:equivalentTo"}
xref: MESH:D020301 {source="MONDO:equivalentTo", source="EFO:1000994", source="DOID:13100", source="MONDO:ontobio"}
xref: UMLS:C0751895 {source="MONDO:equivalentTo", source="DOID:13100"}
is_a: MONDO:0011057 {source="DOID:13100", source="EFO:1000994", source="MESH:D020301"} ! cerebrovascular disorder
property_value: exactMatch DOID:13100
property_value: exactMatch http://identifiers.org/mesh/D020301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751895

[Term]
id: MONDO:0006813
name: intradermal nevus
def: "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." [NCIT:C3804]
synonym: "dermal Nevus" EXACT [NCIT:C3804]
xref: EFO:1000995 {source="MONDO:equivalentTo"}
xref: ICDO:8750/0 {source="NCIT:C3804"}
xref: MedDRA:10058537 {source="EFO:1000995"}
xref: MESH:D018330 {source="MONDO:equivalentTo", source="EFO:1000995", source="MONDO:ontobio"}
xref: NCIT:C3804 {source="MONDO:equivalentTo", source="EFO:1000995", source="exact-label-match"}
xref: SCTID:302838006 {source="MONDO:equivalentTo"}
xref: UMLS:C0206737 {source="NCIT:C3804", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="EFO:1000995", source="MESH:D018330", source="NCIT:C3804/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus
property_value: closeMatch DOID:2424
property_value: closeMatch http://identifiers.org/meddra/10058537
property_value: closeMatch http://identifiers.org/snomedct/112681002
property_value: exactMatch http://identifiers.org/mesh/D018330
property_value: exactMatch http://identifiers.org/snomedct/302838006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206737
property_value: exactMatch NCIT:C3804

[Term]
id: MONDO:0006814
name: iritis (disease)
def: "Inflammation of the iris." [NCIT:P378]
synonym: "inflammation of iris" EXACT []
synonym: "iris inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "iritis" EXACT [MONDO:ambiguous]
xref: DOID:1406 {source="MONDO:equivalentTo", source="EFO:1000997"}
xref: EFO:1000997 {source="MONDO:equivalentTo"}
xref: HP:0001101 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10022955 {source="EFO:1000997"}
xref: MESH:D007500 {source="MONDO:equivalentTo", source="EFO:1000997", source="MONDO:ontobio", source="DOID:1406"}
xref: NCIT:C50621 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000997", source="DOID:1406"}
xref: SCTID:65074000 {source="MONDO:kboom-pr-0.97/0.85/1.79", source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"}
xref: UMLS:C0022081 {source="NCIT:C50621", source="MONDO:equivalentTo", source="DOID:1406"}
is_a: MONDO:0002289 {source="DOID:1406", source="MESH:D007500", source="MONDO:Redundant", source="linkedlifedata"} ! iris disease
is_a: MONDO:0020283 ! uveitis (disease)
property_value: closeMatch http://identifiers.org/meddra/10022955
property_value: exactMatch DOID:1406
property_value: exactMatch http://identifiers.org/mesh/D007500
property_value: exactMatch http://identifiers.org/snomedct/65074000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022081
property_value: exactMatch NCIT:C50621

[Term]
id: MONDO:0006815
name: jejunal cancer
def: "A malignant neoplasm involving the jejunum." [MONDO:DesignPattern]
synonym: "cancer of jejunum" EXACT [MONDO:patterns/cancer]
synonym: "jejunum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant jejunum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of jejunum" EXACT [DOID:13499, ICD9CM_2006:152.1, MONDO:patterns/cancer, MTH:U001249]
synonym: "malignant tumor of jejunum" EXACT [DOID:13499]
xref: DOID:13499 {source="MONDO:equivalentTo", source="EFO:1000998"}
xref: EFO:1000998 {source="MONDO:equivalentTo"}
xref: ICD10:C17.1 {source="DOID:13499"}
xref: ICD9:152.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13499"}
xref: MedDRA:10023166 {source="EFO:1000998"}
xref: SCTID:363404008 {source="MONDO:equivalentTo", source="DOID:13499", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0153427 {source="MONDO:equivalentTo", source="DOID:13499"}
is_a: MONDO:0000956 {source="DOID:13499", source="MONDO:Redundant", source="MONDO:cjm"} ! small intestine cancer
is_a: MONDO:0002564 {source="MONDO:Redundant", source="linkedlifedata"} ! jejunal neoplasm
property_value: closeMatch http://identifiers.org/meddra/10023166
property_value: closeMatch http://identifiers.org/snomedct/93846004
property_value: exactMatch DOID:13499
property_value: exactMatch http://identifiers.org/snomedct/363404008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153427

[Term]
id: MONDO:0006816
name: arthropathy
def: "Any disorder of the joints." [NCIT:C35760]
synonym: "ankylosis of ankle and foot joint" NARROW [DOID:381]
synonym: "ankylosis of forearm joint" NARROW [DOID:381]
synonym: "ankylosis of hand joint" NARROW [DOID:381]
synonym: "ankylosis of joint of ankle and/or foot" EXACT [DOID:381]
synonym: "ankylosis of joint of forearm" EXACT [DOID:381]
synonym: "ankylosis of joint of hand" EXACT [DOID:381]
synonym: "ankylosis of joint of lower leg" EXACT [DOID:381]
synonym: "ankylosis of joint of multiple sites" NARROW [DOID:381]
synonym: "ankylosis of joint of pelvic region and thigh" NARROW [DOID:381]
synonym: "ankylosis of joint of shoulder region" NARROW [DOID:381]
synonym: "ankylosis of joint of upper arm" EXACT [DOID:381]
synonym: "ankylosis of lower leg joint" NARROW [DOID:381]
synonym: "ankylosis of multiple joints" NARROW [DOID:381]
synonym: "ankylosis of upper arm joint" NARROW [DOID:381]
synonym: "arthropathy" EXACT [NCIT:C35760]
synonym: "arthrosis" RELATED []
synonym: "disease of skeletal joint" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal joint" EXACT []
synonym: "disorder of joint" RELATED []
synonym: "disorder of skeletal joint" EXACT [MONDO:patterns/location_top]
synonym: "disorder of skeletal joint" RELATED [MONDO:patterns/location_top]
synonym: "disorder, Joint" EXACT [NCIT:C35760]
synonym: "infectious arthropathy" NARROW [DOID:381]
synonym: "Joint ankylosis of the ankle and foot" NARROW [DOID:381]
synonym: "Joint ankylosis of the ankle and/or foot" EXACT [DOID:381]
synonym: "Joint ankylosis of the forearm" NARROW [DOID:381]
synonym: "Joint ankylosis of the hand" NARROW [DOID:381]
synonym: "Joint ankylosis of the lower leg" NARROW [DOID:381]
synonym: "Joint ankylosis of the pelvic region and thigh" NARROW [DOID:381]
synonym: "Joint ankylosis of the shoulder region" NARROW [DOID:381]
synonym: "Joint ankylosis of the upper arm" NARROW [DOID:381]
synonym: "joint disease" RELATED []
synonym: "Joint disorder" EXACT [NCIT:C35760]
synonym: "joint disorder" RELATED []
synonym: "skeletal joint disease" EXACT [MONDO:patterns/location]
synonym: "skeletal joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:73553 {source="MONDO:equivalentTo"}
xref: DOID:381 {source="MONDO:equivalentTo", source="EFO:1000999"}
xref: EFO:1000999 {source="MONDO:equivalentTo"}
xref: ICD10:M00-M02 {source="DOID:381"}
xref: ICD10:M12.9 {source="DOID:381"}
xref: ICD10:M15.M19 {source="MONDO:equivalentTo"}
xref: ICD10:M19.90 {source="DOID:381"}
xref: ICD10:M25.9 {source="DOID:381"}
xref: ICD9:711 {source="DOID:381"}
xref: ICD9:716.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:716.88 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:716.9 {source="DOID:381"}
xref: ICD9:716.90 {source="DOID:381", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:716.98 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.88 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:719.9 {source="DOID:381"}
xref: ICD9:719.90 {source="DOID:381", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:719.98 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10003285 {source="EFO:1000999"}
xref: MESH:D007592 {source="DOID:381", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35760 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"}
xref: SCTID:399269003 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"}
xref: UMLS:C0022408 {source="NCIT:C35760", source="DOID:381", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
relationship: excluded_subClassOf MONDO:0002614 {source="DOID:381"} ! bone inflammation disease
property_value: closeMatch http://identifiers.org/meddra/10003285
property_value: closeMatch http://identifiers.org/snomedct/156508002
property_value: closeMatch http://identifiers.org/snomedct/156514009
property_value: closeMatch http://identifiers.org/snomedct/156616003
property_value: closeMatch http://identifiers.org/snomedct/196415003
property_value: closeMatch http://identifiers.org/snomedct/201455003
property_value: closeMatch http://identifiers.org/snomedct/202059001
property_value: closeMatch http://identifiers.org/snomedct/202061005
property_value: closeMatch http://identifiers.org/snomedct/202073005
property_value: closeMatch http://identifiers.org/snomedct/202634006
property_value: closeMatch http://identifiers.org/snomedct/202635007
property_value: closeMatch http://identifiers.org/snomedct/202645009
property_value: closeMatch http://identifiers.org/snomedct/202647001
property_value: closeMatch http://identifiers.org/snomedct/203721006
property_value: closeMatch http://identifiers.org/snomedct/203747002
property_value: closeMatch http://identifiers.org/snomedct/227588009
property_value: closeMatch http://identifiers.org/snomedct/267888004
property_value: closeMatch http://identifiers.org/snomedct/267904003
property_value: closeMatch http://identifiers.org/snomedct/268051001
property_value: closeMatch http://identifiers.org/snomedct/268056006
property_value: closeMatch http://identifiers.org/snomedct/268070006
property_value: closeMatch http://identifiers.org/snomedct/363162000
property_value: closeMatch http://identifiers.org/snomedct/371412008
property_value: closeMatch http://identifiers.org/snomedct/396233005
property_value: closeMatch http://identifiers.org/snomedct/48548006
property_value: closeMatch http://identifiers.org/snomedct/80843008
property_value: closeMatch http://identifiers.org/snomedct/8316001
property_value: closeMatch http://identifiers.org/snomedct/83486002
property_value: closeMatch http://identifiers.org/snomedct/90242006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157749
property_value: closeMatch NCIT:C78402
property_value: exactMatch DOID:381
property_value: exactMatch http://identifiers.org/mesh/D007592
property_value: exactMatch http://identifiers.org/snomedct/399269003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022408
property_value: exactMatch NCIT:C35760

[Term]
id: MONDO:0006817
name: juxtacortical osteosarcoma
def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." [NCIT:P378]
synonym: "juxtacortical osteogenic sarcoma" EXACT [NCIT:C8969]
synonym: "juxtacortical osteosarcoma" EXACT [NCIT:C8969]
synonym: "PAOS" RELATED [ONCOTREE:PAOS]
synonym: "parosteal osteogenic sarcoma" EXACT [DOID:3373, NCIT:C8969]
synonym: "parosteal osteosarcoma" EXACT [DOID:3373, MTH:NOCODE, NCIT:C8969]
xref: DOID:3373 {source="EFO:1001000", source="MONDO:equivalentTo"}
xref: EFO:1001000 {source="MONDO:equivalentTo"}
xref: ICDO:9192/3 {source="NCIT:C8969"}
xref: MESH:D018217 {source="EFO:1001000", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3373"}
xref: NCIT:C8969 {source="MONDO:equivalentTo", source="DOID:3373", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:PAOS {source="MONDO:equivalentTo"}
xref: UMLS:C0206642 {source="MONDO:equivalentTo", source="NCIT:C8969", source="DOID:3373"}
is_a: MONDO:0002628 {source="DOID:3373", source="NCIT:C8969"} ! peripheral osteosarcoma
property_value: closeMatch http://identifiers.org/snomedct/128918008
property_value: closeMatch http://identifiers.org/snomedct/189879006
property_value: closeMatch http://identifiers.org/snomedct/91242000
property_value: exactMatch DOID:3373
property_value: exactMatch http://identifiers.org/mesh/D018217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206642
property_value: exactMatch NCIT:C8969

[Term]
id: MONDO:0006818
name: obsolete keratoconjunctivitis sicca
is_obsolete: true
replaced_by: MONDO:0006733

[Term]
id: MONDO:0006819
name: kernicterus
def: "A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin." [NCIT:P378]
synonym: "bilirubin encephalopathy" EXACT [CSP2005:1653-7303, DOID:2382]
xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"}
xref: EFO:1001002 {source="MONDO:equivalentTo"}
xref: ICD10:P57 {source="EFO:1001002", source="DOID:2382"}
xref: ICD10:P57.9 {source="DOID:2382"}
xref: MedDRA:10023376 {source="EFO:1001002"}
xref: MESH:D007647 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"}
xref: NCIT:C84799 {source="EFO:1001002", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:2382"}
is_a: MONDO:0005560 {source="DOID:2382", source="EFO:1001002", source="MESH:D007647/inferred"} ! brain disease
property_value: closeMatch http://identifiers.org/meddra/10023376
property_value: closeMatch http://identifiers.org/snomedct/157135006
property_value: closeMatch http://identifiers.org/snomedct/206479002
property_value: closeMatch http://identifiers.org/snomedct/230770008
property_value: closeMatch http://identifiers.org/snomedct/268880009
property_value: closeMatch http://identifiers.org/snomedct/74925009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022610
property_value: exactMatch DOID:2382
property_value: exactMatch http://identifiers.org/mesh/D007647
property_value: exactMatch NCIT:C84799

[Term]
id: MONDO:0006820
name: kidney cortex necrosis
def: "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." [MESH:D007673]
synonym: "renal cortical necrosis" EXACT [DOID:2973]
xref: COHD:40480627 {source="MONDO:equivalentTo"}
xref: DOID:2973 {source="MONDO:equivalentTo", source="EFO:1001003"}
xref: EFO:1001003 {source="MONDO:equivalentTo"}
xref: ICD10:N17.1 {source="DOID:2973"}
xref: ICD9:583.6 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10023414 {source="EFO:1001003"}
xref: MESH:D007673 {source="MONDO:equivalentTo", source="DOID:2973", source="EFO:1001003", source="MONDO:ontobio"}
xref: SCTID:444691002 {source="MONDO:equivalentTo", source="DOID:2973", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005240 {source="DOID:2973", source="EFO:1001003", source="MESH:D007673", source="linkedlifedata"} ! kidney disease
property_value: closeMatch http://identifiers.org/meddra/10023414
property_value: closeMatch http://identifiers.org/snomedct/45456005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022656
property_value: exactMatch DOID:2973
property_value: exactMatch http://identifiers.org/mesh/D007673
property_value: exactMatch http://identifiers.org/snomedct/444691002

[Term]
id: MONDO:0006821
name: kidney papillary necrosis
def: "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." [MESH:D007681]
synonym: "necrotizing renal papillitis" EXACT [DOID:2981, MTHICD9_2006:584.7]
synonym: "papillary necrosis" EXACT [DOID:2981]
synonym: "renal papillitis necrotizing" EXACT [DOID:2981, MTH:NOCODE]
xref: COHD:444409 {source="MONDO:equivalentTo"}
xref: DOID:2981 {source="EFO:1001004", source="MONDO:equivalentTo"}
xref: EFO:1001004 {source="MONDO:equivalentTo"}
xref: ICD9:583.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10028865 {source="EFO:1001004"}
xref: MESH:D007681 {source="DOID:2981", source="EFO:1001004", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:90241004 {source="DOID:2981", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022667 {source="DOID:2981", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:2981", source="EFO:1001004", source="MESH:D007681", source="MONDO:Entailed", source="linkedlifedata"} ! kidney disease
property_value: closeMatch http://identifiers.org/meddra/10028865
property_value: closeMatch http://identifiers.org/snomedct/197651008
property_value: exactMatch DOID:2981
property_value: exactMatch http://identifiers.org/mesh/D007681
property_value: exactMatch http://identifiers.org/snomedct/90241004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022667

[Term]
id: MONDO:0006822
name: obsolete Klatskin's tumor
is_obsolete: true
replaced_by: MONDO:0003345

[Term]
id: MONDO:0006823
name: Klinefelter syndrome
def: "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." [NCIT:P378]
synonym: "47,XXY syndrome" EXACT [NCIT:C34752]
synonym: "hypogonadotropic hypogonadism" RELATED [NCIT:C34752]
synonym: "Klinefelter syndrome" EXACT [DOID:1921, NCIT:C34752]
synonym: "Klinefelter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34752]
synonym: "Klinefelter's syndrome, XXY" EXACT [NCIT:C34752]
synonym: "XXY syndrome" EXACT [DOID:1921, MTHICD9_2006:758.7, NCIT:C34752]
synonym: "XXY syndrome (Klinefelter syndrome)" EXACT [NCIT:C34752]
synonym: "XXY trisomy" EXACT [CSP2005:1254-8437, DOID:1921]
xref: COHD:4228490 {source="MONDO:equivalentTo"}
xref: DOID:1921 {source="MONDO:equivalentTo", source="EFO:1001006"}
xref: EFO:1001006 {source="MONDO:equivalentTo"}
xref: ICD10:Q98.0 {source="DOID:1921"}
xref: ICD10:Q98.4 {source="DOID:1921"}
xref: ICD9:758.7 {source="EFO:1001006", source="DOID:1921", source="MONDO:directSiblingOf"}
xref: MedDRA:10023463 {source="EFO:1001006"}
xref: NCIT:C34752 {source="MONDO:equivalentTo", source="EFO:1001006", source="MONDO:kboom-pr-0.94/0.84/0.72", source="DOID:1921"}
xref: SCTID:405769009 {source="MONDO:equivalentTo", source="DOID:1921", source="MONDO:kboom-pr-0.96/0.76/2.33"}
xref: UMLS:C0022735 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34752", source="DOID:1921"}
is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0017001 {source="MONDO:cjm"} ! X chromosome number anomaly with male phenotype
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017975 {source="MONDO:cjm"} ! sex chromosome disorder of sex development
is_a: MONDO:0020090 {source="MONDO:cjm"} ! male infertility due to gonadal dysgenesis
property_value: closeMatch http://identifiers.org/meddra/10023463
property_value: closeMatch http://identifiers.org/snomedct/157021007
property_value: closeMatch http://identifiers.org/snomedct/205696000
property_value: closeMatch http://identifiers.org/snomedct/205701007
property_value: closeMatch http://identifiers.org/snomedct/205712007
property_value: closeMatch http://identifiers.org/snomedct/22053006
property_value: closeMatch http://identifiers.org/snomedct/268300003
property_value: closeMatch http://identifiers.org/snomedct/268357008
property_value: closeMatch http://identifiers.org/snomedct/405770005
property_value: exactMatch DOID:1921
property_value: exactMatch http://identifiers.org/snomedct/405769009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022735
property_value: exactMatch NCIT:C34752

[Term]
id: MONDO:0006824
name: Krebs 2 carcinoma
def: "carcinoma having known association to krebs2 gene mutation" [EFO:1001007]
xref: EFO:1001007 {source="MONDO:equivalentTo"}
xref: MESH:D002287 {source="MONDO:equivalentTo", source="EFO:1001007", source="MONDO:ontobio"}
xref: UMLS:C0007128 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="EFO:1001007", source="MESH:D002287", source="MONDOLEX:0006824"} ! carcinoma
property_value: closeMatch DOID:4711
property_value: exactMatch http://identifiers.org/mesh/D002287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007128

[Term]
id: MONDO:0006825
name: kuru
def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729]
subset: gard_rare {source="GARD:0007617"}
subset: ordo_disease {source="Orphanet:454745"}
synonym: "kuru encephalopathy" EXACT [DOID:648]
xref: COHD:444373 {source="MONDO:equivalentTo"}
xref: DOID:648 {source="MONDO:equivalentTo", source="EFO:1001008"}
xref: EFO:1001008 {source="MONDO:equivalentTo"}
xref: GARD:0007617 {source="MONDO:equivalentTo"}
xref: ICD10:A81.8 {source="ORDO:454745/ntbt", source="Orphanet:454745"}
xref: ICD10:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"}
xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="i2s", source="EFO:1001008"}
xref: MedDRA:10023497 {source="EFO:1001008"}
xref: MESH:D007729 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008", source="MONDO:ontobio"}
xref: Orphanet:454745 {source="MONDO:equivalentTo"}
xref: SCTID:86188000 {source="DOID:648", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001008"}
xref: UMLS:C0022802 {source="DOID:648", source="MONDO:equivalentTo", source="Orphanet:454745"}
is_a: MONDO:0005429 {source="DOID:648", source="EFO:1001008", source="MESH:D007729"} ! prion disease
is_a: MONDO:0017641 {source="Orphanet:454745"} ! miscellaneous movement disorder due to neurodegenerative disease
is_a: MONDO:0018926 {source="Orphanet:454745"} ! human prion disease
property_value: closeMatch http://identifiers.org/meddra/10023497
property_value: closeMatch http://identifiers.org/snomedct/192684001
property_value: exactMatch DOID:648
property_value: exactMatch http://identifiers.org/mesh/D007729
property_value: exactMatch http://identifiers.org/snomedct/86188000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022802
property_value: exactMatch Orphanet:454745
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7617/kuru xsd:anyURI {source="GARD:0007617"}

[Term]
id: MONDO:0006826
name: kwashiorkor
def: "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" [MESH:D007732]
synonym: "Kwashiokor" EXACT [DOID:13579]
synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [DOID:13579, MTHICD9_2006:260]
synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT [DOID:13579]
xref: COHD:432593 {source="MONDO:equivalentTo"}
xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"}
xref: EFO:1001009 {source="MONDO:equivalentTo"}
xref: ICD10:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"}
xref: ICD9:260 {source="DOID:13579", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10023504 {source="EFO:1001009"}
xref: MESH:D007732 {source="DOID:13579", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001009"}
xref: SCTID:58262005 {source="DOID:13579", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1001009"}
xref: UMLS:C0022806 {source="DOID:13579", source="MONDO:equivalentTo"}
is_a: MONDO:0001371 {source="DOID:13579", source="linkedlifedata"} ! protein-energy malnutrition
property_value: closeMatch http://identifiers.org/meddra/10023504
property_value: closeMatch http://identifiers.org/snomedct/154730001
property_value: closeMatch http://identifiers.org/snomedct/267495004
property_value: exactMatch DOID:13579
property_value: exactMatch http://identifiers.org/mesh/D007732
property_value: exactMatch http://identifiers.org/snomedct/58262005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022806

[Term]
id: MONDO:0006827
name: lateral medullary syndrome
def: "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." [NCIT:P378]
subset: gard_rare
synonym: "Lateral medullary syndrome" RELATED [GARD:0009263]
synonym: "PICA syndrome" RELATED [GARD:0009263]
synonym: "Posterior inferior cerebellar artery syndrome" EXACT [DOID:3522]
synonym: "Posterior inferior cerebellar artery syndrome" RELATED [GARD:0009263]
synonym: "Vertebral artery syndrome" RELATED [GARD:0009263]
synonym: "Wallenberg syndrome" EXACT [DOID:3522]
synonym: "Wallenberg's syndrome" EXACT [NCIT:C84807]
synonym: "Wallenberg's syndrome" RELATED [GARD:0009263]
xref: DOID:3522 {source="EFO:1001011", source="MONDO:equivalentTo"}
xref: EFO:1001011 {source="MONDO:equivalentTo"}
xref: GARD:0009263 {source="MONDO:equivalentTo"}
xref: ICD10:G46.3 {source="DOID:3522"}
xref: ICD9:437.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10024033 {source="EFO:1001011"}
xref: MESH:D014854 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84807 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.91"}
xref: SCTID:78569004 {source="DOID:3522", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0043019 {source="DOID:3522", source="MONDO:equivalentTo", source="NCIT:C84807"}
is_a: MONDO:0002254 {source="MONDOLEX:0006827", source="NCIT:C84807"} ! syndromic disease
is_a: MONDO:0006686 {source="DOID:3522", source="EFO:1001011", source="MESH:D014854", source="linkedlifedata"} ! brain stem infarction
property_value: closeMatch http://identifiers.org/meddra/10024033
property_value: closeMatch http://identifiers.org/snomedct/195193009
property_value: exactMatch DOID:3522
property_value: exactMatch http://identifiers.org/mesh/D014854
property_value: exactMatch http://identifiers.org/snomedct/78569004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043019
property_value: exactMatch NCIT:C84807

[Term]
id: MONDO:0006828
name: nasal cavity and paranasal sinus lethal midline granuloma
def: "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." [NCIT:C8196]
comment: Editor note: TODO granuloma DP
synonym: "lethal midline granuloma" RELATED [DOID:9072]
synonym: "malignant granuloma of face" EXACT [DOID:9072, MTHICD9_2006:446.3]
synonym: "midfacial Necrotising lesion" EXACT [DOID:9072, NCIT:C8196]
synonym: "Midline lethal granuloma of nasal cavity and paranasal sinus" EXACT [NCIT:C8196]
synonym: "Midline lethal granuloma of the nasal cavity and paranasal sinus" EXACT [NCIT:C8196]
synonym: "nasal cavity and paranasal sinus lethal Midline granuloma" EXACT [NCIT:C8196]
xref: COHD:133511 {source="MONDO:equivalentTo"}
xref: DOID:9072 {source="EFO:1001013", source="MONDO:equivalentTo"}
xref: EFO:1001013 {source="MONDO:equivalentTo"}
xref: ICD10:M31.2 {source="DOID:9072", source="EFO:1001013", source="MONDO:equivalentTo"}
xref: ICD9:446.3 {source="DOID:9072", source="EFO:1001013"}
xref: MedDRA:10024255 {source="EFO:1001013"}
xref: MESH:D006103 {source="DOID:9072", source="EFO:1001013", source="MONDO:equivalentTo"}
xref: NCIT:C8196 {source="DOID:9072", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002436 {source="DOID:9072", source="MESH:D006103"} ! nasal disorder
is_a: MONDO:0005586 {source="EFO:1001013", source="MONDO:Entailed"} ! head and neck neoplasm
property_value: closeMatch http://identifiers.org/meddra/10024255
property_value: closeMatch http://identifiers.org/snomedct/58961005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018197
property_value: exactMatch DOID:9072
property_value: exactMatch http://identifiers.org/mesh/D006103
property_value: exactMatch NCIT:C8196

[Term]
id: MONDO:0006829
name: leukemoid reaction
def: "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." [NCIT:P378]
comment: Represents a finding, may be obsoleted.
xref: COHD:432283 {source="MONDO:equivalentTo"}
xref: EFO:1001014 {source="MONDO:equivalentTo"}
xref: ICD10:D72.823 {source="MONDO:equivalentTo"}
xref: ICD9:288.62 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10024373 {source="EFO:1001014"}
xref: MESH:D007955 {source="MONDO:equivalentTo", source="EFO:1001014", source="MONDO:ontobio"}
xref: SCTID:56478004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001014"}
xref: UMLS:C0023501 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004959 {source="EFO:1001014"} ! plasma cell neoplasm
property_value: closeMatch DOID:3166
property_value: closeMatch http://identifiers.org/meddra/10024373
property_value: exactMatch http://identifiers.org/mesh/D007955
property_value: exactMatch http://identifiers.org/snomedct/56478004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023501
property_value: exactMatch NCIT:C3185

[Term]
id: MONDO:0006830
name: leukoplakia of penis
def: "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." [NCIT:P378]
synonym: "kraurosis of penis" EXACT [DOID:8738, MTHICD9_2006:607.0]
synonym: "kraurosis penis" EXACT [NCIT:C3151]
synonym: "leukoplakia of the penis" EXACT [NCIT:C3151]
synonym: "penile leukoplakia" EXACT [DOID:8738, NCIT:C3151]
xref: COHD:195009 {source="MONDO:equivalentTo"}
xref: DOID:8738 {source="EFO:1001015", source="MONDO:equivalentTo"}
xref: EFO:1001015 {source="MONDO:equivalentTo"}
xref: ICD10:N48.0 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo"}
xref: ICD9:607.0 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10024394 {source="EFO:1001015"}
xref: NCIT:C3151 {source="DOID:8738", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:3323003 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022782 {source="NCIT:C3151", source="DOID:8738", source="MONDO:equivalentTo"}
is_a: MONDO:0002036 {source="DOID:8738", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile disease
is_a: MONDO:0043243 ! leukoplakia
property_value: closeMatch http://identifiers.org/meddra/10024394
property_value: closeMatch http://identifiers.org/mesh/D052798
property_value: closeMatch http://identifiers.org/snomedct/155932009
property_value: closeMatch http://identifiers.org/snomedct/198019005
property_value: closeMatch http://identifiers.org/snomedct/266639006
property_value: exactMatch DOID:8738
property_value: exactMatch http://identifiers.org/snomedct/3323003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022782
property_value: exactMatch NCIT:C3151

[Term]
id: MONDO:0006831
name: leukostasis
def: "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." [NCIT:P378]
synonym: "leukostasis (morphologic abnormality)" EXACT [DOID:12986]
xref: DOID:12986 {source="MONDO:equivalentTo", source="EFO:1001016"}
xref: EFO:1001016 {source="MONDO:equivalentTo"}
xref: MedDRA:10024404 {source="EFO:1001016"}
xref: MESH:D018921 {source="DOID:12986", source="MONDO:equivalentTo", source="EFO:1001016", source="MONDO:ontobio"}
xref: UMLS:C0282548 {source="DOID:12986", source="MONDO:equivalentTo"}
is_a: MONDO:0004805 {source="DOID:12986", source="MESH:D018921"} ! leukocyte disease
property_value: closeMatch http://identifiers.org/meddra/10024404
property_value: closeMatch http://identifiers.org/snomedct/30419000
property_value: exactMatch DOID:12986
property_value: exactMatch http://identifiers.org/mesh/D018921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282548
property_value: exactMatch NCIT:C4062

[Term]
id: MONDO:0006832
name: limited scleroderma
def: "The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma." [MESH:D045745]
synonym: "limited cutaneous systemic sclerosis" EXACT EXCLUDE [DOID:1577]
synonym: "systemic sclerosis, limited" EXACT [DOID:1577]
xref: DOID:1577 {source="MONDO:equivalentTo", source="EFO:1001017"}
xref: EFO:1001017 {source="MONDO:equivalentTo"}
xref: MESH:D045745 {source="DOID:1577", source="MONDO:equivalentTo", source="EFO:1001017", source="MONDO:ontobio"}
xref: SCTID:299276009 {source="DOID:1577", source="MONDO:equivalentTo", source="EFO:1001017", source="MONDO:kboom-pr-0.67/0.33/0.09"}
xref: UMLS:C0748540 {source="DOID:1577", source="MONDO:equivalentTo"}
is_a: MONDO:0005100 {source="DOID:1577", source="EFO:1001017", source="MESH:D045745", source="MONDOLEX:0006832", source="linkedlifedata"} ! systemic sclerosis
property_value: closeMatch http://identifiers.org/snomedct/128459005
property_value: exactMatch DOID:1577
property_value: exactMatch http://identifiers.org/mesh/D045745
property_value: exactMatch http://identifiers.org/snomedct/299276009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748540

[Term]
id: MONDO:0006833
name: lingual goiter
def: "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." [MESH:D047268]
xref: DOID:13196 {source="MONDO:equivalentTo", source="EFO:1001018"}
xref: EFO:1001018 {source="MONDO:equivalentTo"}
xref: ICD9:759.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D047268 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018", source="MONDO:ontobio"}
xref: SCTID:75667007 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271760 {source="DOID:13196", source="MONDO:equivalentTo"}
is_a: MONDO:0005397 {source="DOID:13196", source="EFO:1001018", source="MESH:D047268", source="linkedlifedata"} ! goiter (disease)
property_value: exactMatch DOID:13196
property_value: exactMatch http://identifiers.org/mesh/D047268
property_value: exactMatch http://identifiers.org/snomedct/75667007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271760

[Term]
id: MONDO:0006834
name: lip cancer
def: "A primary or metastatic malignant neoplasm involving the lip." [NCIT:C7485]
synonym: "cancer of lip" EXACT [MONDO:patterns/cancer]
synonym: "lip cancer" EXACT [MONDO:patterns/location]
synonym: "malignant Lip neoplasm" EXACT [NCIT:C7485]
synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Lip tumor" EXACT [NCIT:C7485]
synonym: "malignant neoplasm of commissure of lip" EXACT [DOID:8564]
synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564, MTHICD9_2006:140.9]
synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564, MTHICD9_2006:140.6]
synonym: "malignant neoplasm of Lip" EXACT [NCIT:C7485]
synonym: "malignant neoplasm of lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lip, external" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, inner aspect" EXACT [DOID:8564, MTH:NOCODE]
synonym: "malignant neoplasm of lip, unspecified" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, vermilion border" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, mucosa" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [DOID:8564, MTHICD9_2006:140.4]
synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [DOID:8564, MTHICD9_2006:140.5]
synonym: "malignant neoplasm of other sites of lip" EXACT [DOID:8564]
synonym: "malignant neoplasm of the Lip" EXACT [NCIT:C7485]
synonym: "malignant neoplasm of vermilion border of lip" EXACT [DOID:8564]
synonym: "malignant tumor of commissure of lip" EXACT [DOID:8564, MTH:NOCODE]
synonym: "malignant tumor of labial mucosa" EXACT [DOID:8564]
synonym: "malignant tumor of Lip" EXACT [NCIT:C7485]
synonym: "malignant tumor of lower labial mucosa" EXACT [DOID:8564]
synonym: "malignant tumor of the Lip" EXACT [DOID:8564, NCIT:C7485]
synonym: "malignant tumour of labial commissure" EXACT [DOID:8564]
synonym: "malignant tumour of lip" EXACT [DOID:8564]
xref: DOID:8564 {source="MONDO:equivalentTo", source="EFO:1001019"}
xref: EFO:1001019 {source="MONDO:equivalentTo"}
xref: ICD10:C00 {source="MONDO:equivalentTo", source="DOID:8564"}
xref: ICD10:C00.9 {source="DOID:8564"}
xref: ICD9:140 {source="DOID:8564"}
xref: ICD9:140.5 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:140.6 {source="DOID:8564"}
xref: ICD9:140.8 {source="DOID:8564"}
xref: MedDRA:10007089 {source="EFO:1001019"}
xref: MESH:D008048 {source="MONDO:equivalentTo", source="EFO:1001019", source="MONDO:ontobio", source="DOID:8564"}
xref: NCIT:C7485 {source="MONDO:equivalentTo", source="DOID:8564"}
xref: SCTID:187622006 {source="MONDO:kboom-pr-0.81/0.58/0.34", source="MONDO:equivalentTo"}
is_a: MONDO:0000653 ! integumentary system cancer
is_a: MONDO:0005515 {source="DOID:8564", source="EFO:1001019", source="linkedlifedata"} ! oral cavity cancer
is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C7485", source="linkedlifedata/inferred"} ! lip neoplasm
property_value: closeMatch http://identifiers.org/meddra/10007089
property_value: closeMatch http://identifiers.org/snomedct/187599002
property_value: closeMatch http://identifiers.org/snomedct/187625008
property_value: closeMatch http://identifiers.org/snomedct/187626009
property_value: closeMatch http://identifiers.org/snomedct/309808004
property_value: closeMatch http://identifiers.org/snomedct/363348004
property_value: closeMatch http://identifiers.org/snomedct/363374005
property_value: closeMatch http://identifiers.org/snomedct/93762003
property_value: closeMatch http://identifiers.org/snomedct/93869001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153340
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153346
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153347
property_value: exactMatch DOID:8564
property_value: exactMatch http://identifiers.org/mesh/D008048
property_value: exactMatch http://identifiers.org/snomedct/187622006
property_value: exactMatch NCIT:C7485

[Term]
id: MONDO:0006835
name: lipoid nephrosis
def: "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome." [NCIT:C34844]
synonym: "idiopathic minimal change nephrotic syndrome" RELATED [GARD:0009147]
synonym: "lipoid nephrosis" EXACT [NCIT:C34844]
synonym: "MCNS" RELATED [GARD:0009147]
synonym: "minimal change disease" EXACT [DOID:10966, NCIT:C34844]
synonym: "minimal change glomerulonephritis" EXACT [DOID:10966, NCIT:C34844]
synonym: "minimal change glomerulopathy" RELATED [GARD:0009147]
synonym: "minimal change nephropathy" EXACT [NCIT:C34844]
synonym: "minimal change nephrotic syndrome" RELATED [GARD:0009147]
synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [DOID:10966, ICD9CM_2006:581.3]
synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [DOID:10966, MTHICD9_2006:581.3]
synonym: "nil disease" EXACT [NCIT:C34844]
xref: DOID:10966 {source="EFO:1001020", source="MONDO:equivalentTo"}
xref: EFO:1001020 {source="MONDO:equivalentTo"}
xref: GARD:0009147 {source="MONDO:equivalentTo"}
xref: ICD10:N04 {source="DOID:10966"}
xref: MedDRA:10058325 {source="EFO:1001020"}
xref: MESH:D009402 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34844 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"}
xref: SCTID:44785005 {source="EFO:1001020", source="MONDO:kboom-pr-0.92/0.83/0.15", source="DOID:10966", source="MONDO:equivalentTo"}
xref: UMLS:C0027721 {source="DOID:10966", source="MONDO:equivalentTo"}
is_a: MONDO:0002462 {source="DOID:10966", source="MONDOLEX:0006835", source="NCIT:C34844", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
relationship: excluded_subClassOf MONDO:0005377 {source="DOID:10966"} ! nephrotic syndrome
property_value: closeMatch http://identifiers.org/meddra/10058325
property_value: closeMatch http://identifiers.org/snomedct/197592009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704320
property_value: exactMatch DOID:10966
property_value: exactMatch http://identifiers.org/mesh/D009402
property_value: exactMatch http://identifiers.org/snomedct/44785005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027721
property_value: exactMatch NCIT:C34844

[Term]
id: MONDO:0006836
name: Listeria meningitis
def: "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)" [MESH:D008584]
synonym: "Cerebritides, Listeria" RELATED [MESH:D008584]
synonym: "cerebritis, Listeria" RELATED [MESH:D008584]
synonym: "Listeria Cerebritides" RELATED [MESH:D008584]
synonym: "Listeria cerebritis" RELATED [MESH:D008584]
synonym: "Listeria Meningitides" RELATED [MESH:D008584]
synonym: "Listeria meningitis" EXACT [MESH:D008584]
synonym: "Listeria Meningoencephalitides" RELATED [MESH:D008584]
synonym: "Listeria meningoencephalitis" RELATED [MESH:D008584]
synonym: "Listeria monocytogenes caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Listeria monocytogenes infectious meningitis" EXACT []
synonym: "Listeria monocytogenes Meningitides" RELATED [MESH:D008584]
synonym: "Listeria monocytogenes meningitis" RELATED [MESH:D008584]
synonym: "Meningitides, Listeria" RELATED [MESH:D008584]
synonym: "Meningitides, Listeria monocytogenes" RELATED [MESH:D008584]
synonym: "meningitis, Listeria monocytogenes" RELATED [MESH:D008584]
synonym: "Meningoencephalitides, Listeria" RELATED [MESH:D008584]
synonym: "meningoencephalitis, Listeria" RELATED [MESH:D008584]
xref: DOID:11572 {source="EFO:1001021", source="MONDO:equivalentTo"}
xref: EFO:1001021 {source="MONDO:equivalentTo"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008584 {source="EFO:1001021", source="MONDO:equivalentTo", source="DOID:11572", source="MONDO:ontobio"}
xref: SCTID:31568009 {source="EFO:1001021", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11572"}
xref: UMLS:C0025293 {source="MONDO:equivalentTo", source="DOID:11572"}
is_a: MONDO:0005828 {source="MESH:D008584", source="MONDO:Redundant"} ! listeriosis
is_a: MONDO:0006670 {source="DOID:11572", source="EFO:1001021", source="MESH:D008584", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial meningitis
property_value: closeMatch http://identifiers.org/snomedct/230151007
property_value: exactMatch DOID:11572
property_value: exactMatch http://identifiers.org/mesh/D008584
property_value: exactMatch http://identifiers.org/snomedct/31568009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025293

[Term]
id: MONDO:0006837
name: low tension glaucoma
def: "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." [MESH:D057066]
synonym: "glaucoma, Low tension" RELATED [MESH:D057066]
synonym: "glaucoma, normal tension" RELATED [MESH:D057066]
synonym: "Glaucomas, Low tension" RELATED [MESH:D057066]
synonym: "Glaucomas, normal tension" RELATED [MESH:D057066]
synonym: "low tension Glaucomas" RELATED [MESH:D057066]
synonym: "normal tension glaucoma" EXACT [DOID:13544, MESH:D057066]
synonym: "normal tension Glaucomas" RELATED [MESH:D057066]
synonym: "tension glaucoma, Low" RELATED [MESH:D057066]
synonym: "tension glaucoma, normal" RELATED [MESH:D057066]
synonym: "tension Glaucomas, Low" RELATED [MESH:D057066]
synonym: "tension Glaucomas, normal" RELATED [MESH:D057066]
xref: COHD:441561 {source="MONDO:equivalentTo"}
xref: DOID:13544 {source="EFO:1001022", source="MONDO:equivalentTo"}
xref: EFO:1001022 {source="MONDO:equivalentTo"}
xref: ICD10:H40.12 {source="DOID:13544"}
xref: ICD9:365.12 {source="MONDO:equivalentTo", source="i2s", source="DOID:13544"}
xref: MedDRA:10024931 {source="EFO:1001022"}
xref: MESH:D057066 {source="EFO:1001022", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13544"}
xref: SCTID:50485007 {source="EFO:1001022", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13544"}
xref: UMLS:C0152136 {source="MONDO:equivalentTo", source="DOID:13544"}
is_a: MONDO:0002135 {source="MESH:D057066"} ! optic nerve disease
is_a: MONDO:0005338 {source="DOID:13544", source="EFO:1001022"} ! open-angle glaucoma
property_value: closeMatch http://identifiers.org/meddra/10024931
property_value: closeMatch http://identifiers.org/snomedct/155124000
property_value: closeMatch http://identifiers.org/snomedct/193567005
property_value: exactMatch DOID:13544
property_value: exactMatch http://identifiers.org/mesh/D057066
property_value: exactMatch http://identifiers.org/snomedct/50485007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152136

[Term]
id: MONDO:0006838
name: lupus vulgaris
def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa." [MESH:D008177]
xref: EFO:1001023 {source="MONDO:equivalentTo"}
xref: MedDRA:10025143 {source="EFO:1001023"}
xref: MESH:D008177 {source="EFO:1001023", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:10528009 {source="EFO:1001023", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0024131 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="EFO:1001023", source="MESH:D008177/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tuberculosis
property_value: closeMatch DOID:5380
property_value: closeMatch http://identifiers.org/meddra/10025143
property_value: exactMatch http://identifiers.org/mesh/D008177
property_value: exactMatch http://identifiers.org/snomedct/10528009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024131

[Term]
id: MONDO:0006839
name: Lutembacher syndrome
def: "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." [MESH:D008185]
synonym: "Lutembacher syndrome" EXACT [DOID:1998]
synonym: "Lutembacher's anomaly" EXACT [DOID:1998]
synonym: "Lutembacher's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MESH:D008185, MONDO:LexicalVariant]
synonym: "Lutembachers syndrome" RELATED [MESH:D008185]
synonym: "syndrome, Lutembacher" RELATED [MESH:D008185]
synonym: "syndrome, Lutembacher's" RELATED [MESH:D008185]
xref: DOID:1998 {source="EFO:1001024", source="MONDO:equivalentTo"}
xref: EFO:1001024 {source="MONDO:equivalentTo"}
xref: MESH:D008185 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998", source="MONDO:ontobio"}
xref: SCTID:204319006 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024164 {source="MONDO:equivalentTo", source="DOID:1998"}
is_a: MONDO:0006664 {source="DOID:1998", source="EFO:1001024", source="MESH:D008185"} ! atrial heart septal defect
property_value: closeMatch http://identifiers.org/snomedct/38842003
property_value: exactMatch DOID:1998
property_value: exactMatch http://identifiers.org/mesh/D008185
property_value: exactMatch http://identifiers.org/snomedct/204319006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024164

[Term]
id: MONDO:0006840
name: lymphangiectasis
def: "Dilatation of the lymphatic vessels." [NCIT:C97087]
subset: gard_rare {source="GARD:0006933"}
synonym: "lymphangiectasia" RELATED [GARD:0006933]
xref: EFO:1001025 {source="MONDO:equivalentTo"}
xref: GARD:0006933 {source="MONDO:equivalentTo"}
xref: MESH:D008200 {source="MONDO:equivalentTo", source="EFO:1001025", source="MONDO:ontobio"}
xref: NCIT:C97087 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0024214 {source="GARD:0006933", source="MONDO:equivalentTo", source="NCIT:C97087"}
is_a: MONDO:0005833 {source="EFO:1001025", source="MESH:D008200"} ! lymphatic system disease
is_a: MONDO:0021658 {source="NCIT:C97087"} ! vascular ectasia
property_value: closeMatch DOID:2402
property_value: exactMatch http://identifiers.org/mesh/D008200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024214
property_value: exactMatch NCIT:C97087
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis xsd:anyURI {source="GARD:0006933"}

[Term]
id: MONDO:0006841
name: lymphangioendothelioma
def: "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques." [NCIT:C3203]
synonym: "acquired progressive lymphangioma" EXACT [NCIT:C3203]
xref: EFO:1001026 {source="MONDO:equivalentTo"}
xref: NCIT:C3203 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:403975006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002013 {source="NCIT:C3203"} ! lymphangioma
property_value: closeMatch DOID:3340
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024217
property_value: exactMatch http://identifiers.org/snomedct/403975006
property_value: exactMatch NCIT:C3203

[Term]
id: MONDO:0006842
name: lymphangiomyoma
def: "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum." [NCIT:C3204]
synonym: "lymphangioleiomyoma" EXACT [NCIT:C3204]
synonym: "lymphangiomyoma" EXACT [NCIT:C3204]
xref: EFO:1001027 {source="MONDO:equivalentTo"}
xref: ICDO:9174/0 {source="NCIT:C3204"}
xref: MESH:D008203 {source="MONDO:equivalentTo", source="EFO:1001027", source="MONDO:ontobio"}
xref: NCIT:C3204 {source="MONDO:equivalentTo", source="EFO:1001027"}
xref: UMLS:C0024223 {source="MONDO:equivalentTo", source="NCIT:C3204"}
is_a: MONDO:0006359 {source="EFO:1001027", source="NCIT:C3204"} ! neoplasm with perivascular epithelioid cell differentiation
property_value: closeMatch DOID:2642
property_value: closeMatch http://identifiers.org/snomedct/25239006
property_value: exactMatch http://identifiers.org/mesh/D008203
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024223
property_value: exactMatch NCIT:C3204

[Term]
id: MONDO:0006843
name: macular holes
def: "A hole in the macula of the retina." [NCIT:P378]
synonym: "macular hole" EXACT [DOID:7633]
xref: DOID:7633 {source="MONDO:equivalentTo", source="EFO:1001028"}
xref: EFO:1001028 {source="MONDO:equivalentTo"}
xref: NCIT:C34795 {source="DOID:7633", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:232006002 {source="DOID:7633", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024441 {source="DOID:7633", source="MONDO:equivalentTo", source="NCIT:C34795"}
is_a: MONDO:0005283 {source="DOID:7633", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease
property_value: closeMatch http://identifiers.org/snomedct/193388002
property_value: exactMatch DOID:7633
property_value: exactMatch http://identifiers.org/snomedct/232006002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024441
property_value: exactMatch NCIT:C34795

[Term]
id: MONDO:0006844
name: magnesium deficiency
def: "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" [MESH:D008275]
xref: EFO:1001029 {source="MONDO:equivalentTo"}
xref: ICD10:E61.2 {source="MONDO:equivalentTo", source="EFO:1001029"}
xref: MedDRA:10025433 {source="EFO:1001029"}
xref: MESH:D008275 {source="MONDO:equivalentTo", source="EFO:1001029", source="MONDO:ontobio"}
xref: SCTID:238118002 {source="MONDO:equivalentTo", source="EFO:1001029", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006873 {source="EFO:1001029", source="MESH:D008275", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch DOID:13581
property_value: closeMatch http://identifiers.org/meddra/10025433
property_value: exactMatch http://identifiers.org/mesh/D008275
property_value: exactMatch http://identifiers.org/snomedct/238118002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024473

[Term]
id: MONDO:0006845
name: male genital tuberculosis
def: "mycobacterium infections of the male reproductive tract (genitalia, male)." [MESH:D014389]
synonym: "genital Tuberculoses, Male" RELATED [MESH:D014389]
synonym: "genital tuberculosis, Male" RELATED [MESH:D014389]
synonym: "Male genital Tuberculoses" RELATED [MESH:D014389]
synonym: "male genital tuberculosis" EXACT [MESH:D014389]
synonym: "male reproductive system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "Tuberculoses, Male genital" RELATED [MESH:D014389]
xref: EFO:1001030 {source="MONDO:equivalentTo"}
xref: MedDRA:10061234 {source="EFO:1001030"}
xref: MESH:D014389 {source="EFO:1001030", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:240379005 {source="EFO:1001030", source="MONDO:equivalentTo"}
xref: UMLS:C0041317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006002 {source="MESH:D014389", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! urogenital tuberculosis
is_a: MONDO:0018396 {source="Orphanet:3389-moved"} ! rare male fertility disorder with obstructive azoospermia
property_value: closeMatch DOID:8024
property_value: closeMatch http://identifiers.org/meddra/10061234
property_value: exactMatch http://identifiers.org/mesh/D014389
property_value: exactMatch http://identifiers.org/snomedct/240379005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041317

[Term]
id: MONDO:0006846
name: malignant hypertension
def: "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." [NCIT:P378]
synonym: "accelerated-malignant hypertension" EXACT [PMID:26658350]
synonym: "hypertensive emergency" EXACT [https://en.wikipedia.org/wiki/Hypertensive_emergency]
synonym: "malignant phase hypertension" EXACT [PMID:26658350]
synonym: "MHT" BROAD [PMID:26658350]
xref: DOID:10824 {source="EFO:1001031", source="MONDO:equivalentTo"}
xref: EFO:1001031 {source="MONDO:equivalentTo"}
xref: MedDRA:10025600 {source="EFO:1001031"}
xref: MESH:D006974 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824", source="MONDO:ontobio"}
xref: SCTID:70272006 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020540 {source="MONDO:equivalentTo", source="DOID:10824"}
xref: UMLS:C0745136 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005044 {source="DOID:10824", source="EFO:1001031", source="MESH:D006974", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertensive disorder
property_value: closeMatch http://identifiers.org/meddra/10025600
property_value: closeMatch http://identifiers.org/snomedct/155301003
property_value: closeMatch http://identifiers.org/snomedct/286951002
property_value: exactMatch DOID:10824
property_value: exactMatch http://identifiers.org/mesh/D006974
property_value: exactMatch http://identifiers.org/snomedct/70272006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745136
property_value: exactMatch NCIT:C3118

[Term]
id: MONDO:0006847
name: malignant lymphatic vessel tumor
def: "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." [MESH:D018190]
comment: Editor note: do not axiomatize as cancer of lymphatic vessel
xref: EFO:1001032 {source="MONDO:equivalentTo"}
is_a: MONDO:0005157 {source="EFO:1001032"} ! lymphoid neoplasm
property_value: closeMatch DOID:1744
property_value: closeMatch http://identifiers.org/mesh/D018190
property_value: closeMatch http://identifiers.org/snomedct/115236002

[Term]
id: MONDO:0006848
name: marasmus
def: "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." [EFO:1001033]
synonym: "nutritional atrophy" EXACT [DOID:12328, MTHICD9_2006:261]
synonym: "nutritional marasmus" EXACT [DOID:12328, ICD9CM_2006:261]
xref: COHD:440370 {source="MONDO:equivalentTo"}
xref: DOID:12328 {source="EFO:1001033", source="MONDO:equivalentTo"}
xref: EFO:1001033 {source="MONDO:equivalentTo"}
xref: ICD10:E41 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"}
xref: ICD9:261 {source="DOID:12328", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10026820 {source="EFO:1001033"}
xref: SCTID:29740003 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0086588 {source="DOID:12328", source="MONDO:equivalentTo"}
is_a: MONDO:0001371 {source="DOID:12328", source="linkedlifedata"} ! protein-energy malnutrition
property_value: closeMatch http://identifiers.org/meddra/10026820
property_value: closeMatch http://identifiers.org/snomedct/154730001
property_value: closeMatch http://identifiers.org/snomedct/190599003
property_value: closeMatch http://identifiers.org/snomedct/267495004
property_value: exactMatch DOID:12328
property_value: exactMatch http://identifiers.org/snomedct/29740003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086588

[Term]
id: MONDO:0006849
name: mastitis
def: "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." [https://en.wikipedia.org/wiki/Mastitis#Types, https://www.nhs.uk/conditions/mastitis/, NCIT:P378]
synonym: "breast infection" EXACT [NCIT:C53662]
synonym: "breast inflammation" EXACT [DOID:10690, MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of breast" EXACT []
synonym: "inflammatory breast disease" EXACT [DOID:10690]
synonym: "inflammatory disease of breast" EXACT [DOID:10690, ICD9CM_2006:611.0]
xref: DOID:10690 {source="EFO:1001034", source="MONDO:equivalentTo"}
xref: EFO:1001034 {source="MONDO:equivalentTo"}
xref: MedDRA:10026883 {source="EFO:1001034"}
xref: MESH:D008413 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690", source="MONDO:ontobio"}
xref: NCIT:C53662 {source="EFO:1001034", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:10690"}
xref: SCTID:45198002 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690", source="MONDO:kboom-pr-0.96/0.68/2.67"}
xref: UMLS:C0024894 {source="MONDO:equivalentTo", source="DOID:10690", source="NCIT:C53662"}
xref: UMLS:C0392317 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002657 {source="DOID:10690", source="MESH:D008413", source="MONDO:Redundant", source="NCIT:C53662/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10026883
property_value: closeMatch http://identifiers.org/snomedct/155952005
property_value: closeMatch http://identifiers.org/snomedct/155955007
property_value: closeMatch http://identifiers.org/snomedct/198099006
property_value: closeMatch http://identifiers.org/snomedct/266641007
property_value: closeMatch http://identifiers.org/snomedct/266644004
property_value: exactMatch DOID:10690
property_value: exactMatch http://identifiers.org/mesh/D008413
property_value: exactMatch http://identifiers.org/snomedct/45198002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392317
property_value: exactMatch NCIT:C53662

[Term]
id: MONDO:0006850
name: maxillary sinus neoplasm
alt_id: MONDO:0021213
def: "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C3219]
synonym: "maxillary antrum neoplasm" EXACT [NCIT:C3219]
synonym: "maxillary antrum tumor" EXACT [NCIT:C3219]
synonym: "maxillary sinus neoplasm" EXACT [NCIT:C3219]
synonym: "maxillary sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "maxillary sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "maxillofacial sinus neoplasm" EXACT [NCIT:C3219]
synonym: "maxillofacial sinus tumor" EXACT [NCIT:C3219]
synonym: "neoplasm of maxillary antrum" EXACT [NCIT:C3219]
synonym: "neoplasm of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "neoplasm of maxillofacial sinus" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillary antrum" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillary sinus" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillofacial sinus" EXACT [NCIT:C3219]
synonym: "tumor of maxillary antrum" EXACT [NCIT:C3219]
synonym: "tumor of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358, NCIT:C3219]
synonym: "tumor of the maxillary antrum" EXACT [NCIT:C3219]
synonym: "tumor of the maxillary sinus" EXACT [NCIT:C3219]
synonym: "tumor of the maxillofacial sinus" EXACT [NCIT:C3219]
xref: DOID:1358 {source="EFO:1001035", source="MONDO:equivalentTo"}
xref: EFO:1001035 {source="MONDO:equivalentTo"}
xref: MedDRA:10026130 {source="EFO:1001035"}
xref: MESH:D008444 {source="EFO:1001035", source="MONDO:equivalentTo", source="DOID:1358"}
xref: NCIT:C3219 {source="EFO:1001035", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.29", source="DOID:1358"}
xref: SCTID:126676009 {source="MONDO:equivalentTo", source="DOID:1358", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024958 {source="MONDO:equivalentTo", source="DOID:1358", source="NCIT:C3219"}
is_a: MONDO:0005289 {source="DOID:1358", source="EFO:1001035", source="MONDO:Redundant", source="NCIT:C3219", source="linkedlifedata"} ! paranasal sinus neoplasm (disease)
is_a: MONDO:0005841 ! maxillary neoplasm
property_value: closeMatch http://identifiers.org/meddra/10026130
property_value: exactMatch DOID:1358
property_value: exactMatch http://identifiers.org/mesh/D008444
property_value: exactMatch http://identifiers.org/snomedct/126676009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024958
property_value: exactMatch NCIT:C3219

[Term]
id: MONDO:0006851
name: meconium aspiration syndrome
def: "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." [NCIT:C87093]
comment: Editor note: ORDO says this is rare, yet NCIT says 5-10% of births
subset: ordo_disease {source="Orphanet:70588"}
synonym: "aspiration syndrome, meconium" RELATED [MESH:D008471]
synonym: "aspiration, meconium" RELATED [MESH:D008471]
synonym: "MAS" EXACT [NCIT:C87093]
synonym: "meconium aspiration" EXACT [DOID:11049, MESH:D008471]
synonym: "meconium aspiration syndrome" EXACT [NCIT:C87093]
synonym: "meconium inhalation" RELATED [MESH:D008471]
synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, NCIT:C87093]
synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471]
xref: COHD:437374 {source="MONDO:equivalentTo"}
xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"}
xref: EFO:1001037 {source="MONDO:equivalentTo"}
xref: GARD:0010494 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P24.0 {source="DOID:11049", source="ORDO:70588/e", source="EFO:1001037", source="Orphanet:70588"}
xref: ICD10:P24.00 {source="DOID:11049"}
xref: ICD10:P24.01 {source="DOID:11049"}
xref: ICD9:770.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027057 {source="EFO:1001037"}
xref: MESH:D008471 {source="DOID:11049", source="ORDO:70588/e", source="EFO:1001037", source="MONDO:equivalentTo", source="Orphanet:70588", source="MONDO:ontobio"}
xref: NCIT:C87093 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.82"}
xref: Orphanet:70588 {source="MONDO:equivalentTo"}
xref: SCTID:206292002 {source="DOID:11049", source="MONDO:kboom-pr-0.93/0.85/0.08", source="EFO:1001037", source="MONDO:equivalentTo"}
xref: UMLS:C0025048 {source="NCIT:C87093", source="DOID:11049", source="ORDO:70588/e", source="MONDO:equivalentTo", source="Orphanet:70588"}
is_a: MONDO:0024263 {source="linkedlifedata"} ! neonatal aspiration syndrome
property_value: closeMatch http://identifiers.org/meddra/10027057
property_value: closeMatch http://identifiers.org/snomedct/14608006
property_value: closeMatch http://identifiers.org/snomedct/157110000
property_value: closeMatch http://identifiers.org/snomedct/278927005
property_value: closeMatch http://identifiers.org/snomedct/85779008
property_value: exactMatch DOID:11049
property_value: exactMatch http://identifiers.org/mesh/D008471
property_value: exactMatch http://identifiers.org/snomedct/206292002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025048
property_value: exactMatch NCIT:C87093
property_value: exactMatch Orphanet:70588

[Term]
id: MONDO:0006852
name: obsolete meningococcal meningitis
is_obsolete: true
replaced_by: MONDO:0018059

[Term]
id: MONDO:0006853
name: mesenchymal chondrosarcoma
def: "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." [NCIT:C3737]
synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C3737]
xref: DOID:4545 {source="EFO:1001041", source="MONDO:equivalentTo"}
xref: EFO:1001041 {source="MONDO:equivalentTo"}
xref: ICDO:9240/3 {source="NCIT:C3737"}
xref: MedDRA:10027389 {source="EFO:1001041"}
xref: MESH:D018211 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3737 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"}
xref: ONCOTREE:MCHS {source="MONDO:equivalentTo"}
xref: UMLS:C0206637 {source="NCIT:C3737", source="DOID:4545", source="MONDO:equivalentTo"}
is_a: MONDO:0006974 {source="NCIT:C3737"} ! small cell sarcoma
is_a: MONDO:0008977 {source="DOID:4545", source="EFO:1001041", source="MESH:D018211", source="MONDOLEX:0006853", source="NCIT:C3737", source="ONCOTREE:MCHS"} ! chondrosarcoma (disease)
property_value: closeMatch http://identifiers.org/meddra/10027389
property_value: closeMatch http://identifiers.org/snomedct/56565002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708980
property_value: closeMatch NCIT:C53493
property_value: exactMatch DOID:4545
property_value: exactMatch http://identifiers.org/mesh/D018211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206637
property_value: exactMatch NCIT:C3737

[Term]
id: MONDO:0006854
name: mesenchymoma
def: "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:C3233]
synonym: "mesenchymoma" EXACT [NCIT:C3233]
xref: DOID:2668 {source="EFO:1001042", source="MONDO:equivalentTo"}
xref: EFO:1001042 {source="MONDO:equivalentTo"}
xref: ICDO:8990/1 {source="NCIT:C3233"}
xref: MESH:D008637 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668", source="MONDO:ontobio"}
xref: NCIT:C3233 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668"}
xref: UMLS:C0025464 {source="MONDO:equivalentTo", source="NCIT:C3233", source="DOID:2668"}
is_a: MONDO:0005070 {source="DOID:2668/inferred", source="EFO:1001042/inferred", source="MESH:D008637/inferred", source="NCIT:C3233/inferred"} ! neoplasm (disease)
property_value: closeMatch http://identifiers.org/snomedct/189809007
property_value: closeMatch http://identifiers.org/snomedct/44524009
property_value: exactMatch DOID:2668
property_value: exactMatch http://identifiers.org/mesh/D008637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025464
property_value: exactMatch NCIT:C3233

[Term]
id: MONDO:0006855
name: mesenteric vascular occlusion
def: "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641]
xref: DOID:13252 {source="EFO:1001043", source="MONDO:equivalentTo"}
xref: EFO:1001043 {source="MONDO:equivalentTo"}
xref: MedDRA:10074583 {source="EFO:1001043"}
xref: MESH:D008641 {source="EFO:1001043", source="MONDO:equivalentTo", source="DOID:13252", source="MONDO:ontobio"}
xref: UMLS:C0025472 {source="MONDO:equivalentTo", source="DOID:13252"}
is_a: MONDO:0005294 {source="DOID:13252", source="EFO:1001043"} ! peripheral vascular disease
property_value: closeMatch http://identifiers.org/meddra/10074583
property_value: exactMatch DOID:13252
property_value: exactMatch http://identifiers.org/mesh/D008641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025472

[Term]
id: MONDO:0006856
name: mesothelial neoplasm
def: "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" [NCIT:C3786]
synonym: "mesothelial neoplasm" EXACT [NCIT:C3786]
synonym: "mesothelial tumor" EXACT [NCIT:C3786]
xref: EFO:1001044 {source="MONDO:equivalentTo"}
xref: MESH:D018301 {source="EFO:1001044", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3786 {source="EFO:1001044", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C3714739 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3786"}
is_a: MONDO:0005070 {source="EFO:1001044", source="MESH:D018301/inferred", source="MONDOLEX:0006856", source="NCIT:C3786/inferred"} ! neoplasm (disease)
property_value: closeMatch DOID:159
property_value: closeMatch http://identifiers.org/snomedct/115232000
property_value: exactMatch http://identifiers.org/mesh/D018301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714739
property_value: exactMatch NCIT:C3786

[Term]
id: MONDO:0006857
name: middle cerebral artery infarction
def: "necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [MESH:D020244]
xref: DOID:3525 {source="EFO:1001045", source="MONDO:equivalentTo"}
xref: EFO:1001045 {source="MONDO:equivalentTo"}
xref: MESH:D020244 {source="EFO:1001045", source="MONDO:equivalentTo", source="DOID:3525", source="MONDO:ontobio"}
xref: UMLS:C0740392 {source="MONDO:equivalentTo", source="DOID:3525"}
is_a: MONDO:0002679 {source="DOID:3525", source="MESH:D020244"} ! cerebral infarction
is_a: MONDO:0006693 {source="DOID:3525", source="EFO:1001045", source="MESH:D020244"} ! cerebral arterial disease
property_value: exactMatch DOID:3525
property_value: exactMatch http://identifiers.org/mesh/D020244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740392

[Term]
id: MONDO:0006858
name: mouth disease
def: "A disease involving the mouth." [MONDO:DesignPattern]
synonym: "disease of mouth" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of mouth" EXACT []
synonym: "disorder of mouth" EXACT [MONDO:patterns/location_top]
synonym: "disorder of mouth" RELATED [MONDO:patterns/location_top]
synonym: "mouth disease" EXACT [MONDO:patterns/location]
synonym: "mouth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oral disease" EXACT [NCIT:C3240]
synonym: "oral disorder" EXACT [NCIT:C3240]
xref: DOID:403 {source="MONDO:equivalentTo", source="EFO:1001047"}
xref: EFO:1001047 {source="MONDO:equivalentTo"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009059 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047", source="MONDO:ontobio"}
xref: NCIT:C3240 {source="DOID:403", source="MONDO:equivalentTo"}
xref: SCTID:118938008 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C0026636 {source="DOID:403", source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005042 ! head disease
property_value: closeMatch http://identifiers.org/snomedct/155630004
property_value: closeMatch http://identifiers.org/snomedct/266484002
property_value: closeMatch NCIT:C27641
property_value: exactMatch DOID:403
property_value: exactMatch http://identifiers.org/mesh/D009059
property_value: exactMatch http://identifiers.org/snomedct/118938008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026636
property_value: exactMatch NCIT:C3240

[Term]
id: MONDO:0006859
name: mucinous cystadenoma
def: "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C2973]
synonym: "adenoma, mucinous, benign" EXACT [NCIT:C2973]
synonym: "mucinous adenoma" EXACT [NCIT:C2973]
synonym: "mucinous cystadenoma" EXACT [NCIT:C2973]
synonym: "mucinous cystoma" EXACT [NCIT:C2973]
synonym: "pseudomucinous cystadenoma" EXACT [NCIT:C2973]
xref: EFO:1001048 {source="MONDO:equivalentTo"}
xref: ICDO:8470/0 {source="NCIT:C2973"}
xref: ICDO:8480/0 {source="NCIT:C2973"}
xref: MESH:D018291 {source="EFO:1001048", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2973 {source="EFO:1001048", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0010635 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2973"}
is_a: MONDO:0002369 {source="MESH:D018291", source="MONDO:Redundant", source="MONDOLEX:0006859", source="NCIT:C2973"} ! cystadenoma
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C2973"} ! mucinous neoplasm
intersection_of: MONDO:0002369 {source="NCIT:C2973"} ! cystadenoma
intersection_of: MONDO:0024338 {source="NCIT:C2973"} ! mucinous neoplasm
property_value: closeMatch DOID:2633
property_value: closeMatch http://identifiers.org/snomedct/67182003
property_value: exactMatch http://identifiers.org/mesh/D018291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010635
property_value: exactMatch NCIT:C2973

[Term]
id: MONDO:0006860
name: obsolete mucoepidermoid tumor
is_obsolete: true
replaced_by: MONDO:0003036

[Term]
id: MONDO:0006861
name: myeloid sarcoma
def: "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" [NCIT:P378]
subset: ordo_disease {source="Orphanet:86850"}
synonym: "chloroma" EXACT [DOID:8683, MTHICD9_2006:205.3, NCIT:C3520, Orphanet:86850]
synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850]
synonym: "granulocytic sarcoma" EXACT [DOID:8683, NCIT:C35815, Orphanet:86850]
synonym: "MS" RELATED [ONCOTREE:MS]
synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520]
synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520]
xref: COHD:140967 {source="MONDO:equivalentTo"}
xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"}
xref: EFO:1001052 {source="MONDO:equivalentTo"}
xref: GARD:0012763 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="ORDO:86850/ntbt", source="DOID:8683"}
xref: ICD10:C92.30 {source="DOID:8683"}
xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"}
xref: ICDO:9930/3 {source="NCIT:C3520"}
xref: MedDRA:10028562 {source="EFO:1001052"}
xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683", source="ORDO:86850/e"}
xref: NCIT:C3520 {source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683", source="MONDO:kboom-pr-0.89/0.70/0.91"}
xref: ONCOTREE:MS {source="MONDO:equivalentTo"}
xref: Orphanet:86850 {source="MONDO:equivalentTo"}
is_a: MONDO:0005089 {source="EFO:1001052", source="MESH:D023981"} ! sarcoma
is_a: MONDO:0015667 {source="Orphanet:86850"} ! unclassified acute myeloid leukemia
property_value: closeMatch http://identifiers.org/meddra/10028562
property_value: closeMatch http://identifiers.org/snomedct/188737002
property_value: closeMatch http://identifiers.org/snomedct/188738007
property_value: closeMatch http://identifiers.org/snomedct/188739004
property_value: closeMatch http://identifiers.org/snomedct/35287006
property_value: closeMatch http://identifiers.org/snomedct/94719007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152276
property_value: exactMatch DOID:8683
property_value: exactMatch http://identifiers.org/mesh/D023981
property_value: exactMatch NCIT:C3520
property_value: exactMatch Orphanet:86850

[Term]
id: MONDO:0006862
name: myofascial pain syndrome
def: "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." [MESH:D009209]
xref: DOID:431 {source="EFO:1001054", source="MONDO:equivalentTo"}
xref: EFO:1001054 {source="MONDO:equivalentTo"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048780 {source="EFO:1001054"}
xref: MESH:D009209 {source="EFO:1001054", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:431"}
xref: SCTID:24693007 {source="EFO:1001054", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
xref: UMLS:C0027073 {source="MONDO:equivalentTo", source="DOID:431"}
is_a: MONDO:0005336 {source="DOID:431", source="EFO:1001054", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy
property_value: closeMatch http://identifiers.org/meddra/10048780
property_value: exactMatch DOID:431
property_value: exactMatch http://identifiers.org/mesh/D009209
property_value: exactMatch http://identifiers.org/snomedct/24693007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027073

[Term]
id: MONDO:0006863
name: myxosarcoma
def: "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." [NCIT:C3255]
synonym: "myxosarcoma" EXACT [NCIT:C3255]
synonym: "myxosarcoma (morphologic abnormality)" EXACT [DOID:4136]
synonym: "myxosarcoma, malignant" EXACT [NCIT:C3255]
xref: DOID:4136 {source="EFO:1001056", source="MONDO:equivalentTo"}
xref: EFO:1001056 {source="MONDO:equivalentTo"}
xref: ICDO:8840/3 {source="NCIT:C3255"}
xref: MESH:D009236 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3255 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C0027155 {source="DOID:4136", source="MONDO:equivalentTo", source="NCIT:C3255"}
is_a: MONDO:0018078 {source="NCIT:C3255"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:4136"} ! connective tissue cancer
property_value: closeMatch http://identifiers.org/snomedct/28351005
property_value: exactMatch DOID:4136
property_value: exactMatch http://identifiers.org/mesh/D009236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027155
property_value: exactMatch NCIT:C3255

[Term]
id: MONDO:0006864
name: necrotizing sialometaplasia
def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797]
xref: DOID:12901 {source="EFO:1001057", source="MONDO:equivalentTo"}
xref: EFO:1001057 {source="MONDO:equivalentTo"}
xref: ICD10:K11.8 {source="DOID:12901"}
xref: ICD9:527.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10072176 {source="EFO:1001057"}
xref: MESH:D012797 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:109769000 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037033 {source="DOID:12901", source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="DOID:12901", source="MESH:D012797", source="linkedlifedata"} ! salivary gland disease
property_value: closeMatch http://identifiers.org/meddra/10072176
property_value: exactMatch DOID:12901
property_value: exactMatch http://identifiers.org/mesh/D012797
property_value: exactMatch http://identifiers.org/snomedct/109769000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037033

[Term]
id: MONDO:0006865
name: necrotizing ulcerative gingivitis
def: "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." [NCIT:P378]
subset: gard_rare
synonym: "acute membranous gingivitis" RELATED [GARD:0005736]
synonym: "acute necrotising ulcerative gingivitis" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivostomatitis [ambiguous]" EXACT [DOID:13924]
synonym: "acute necrotizing ulcerative gingivitis" EXACT [DOID:13924]
synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [DOID:13924]
synonym: "acute ulceromembranous gingivitis" EXACT [DOID:13924]
synonym: "angina - Vincents" EXACT [DOID:13924]
synonym: "ANUG" EXACT [DOID:13924, GARD:0005736]
synonym: "early acute necrotising gingivitis" EXACT [DOID:13924]
synonym: "Fusospirillary gingivitis" RELATED [GARD:0005736]
synonym: "Fusospirillosis" RELATED [GARD:0005736]
synonym: "phagedenic gingivitis" RELATED [GARD:0005736]
synonym: "trench mouth" EXACT [DOID:13924]
synonym: "Vincent angina" EXACT [DOID:13924]
synonym: "Vincent's angina" EXACT [DOID:13924, ICD9CM_2006:101, NCIT:C34637, SCTID:399050001]
synonym: "Vincent's angina - pharyngitis" EXACT [DOID:13924]
synonym: "Vincent's angina NOS" RELATED EXCLUDE [DOID:13924]
synonym: "Vincent's disease" EXACT [DOID:13924]
synonym: "Vincent's gingivitis" RELATED [GARD:0005736]
synonym: "Vincent's infection" RELATED [GARD:0005736]
synonym: "Vincent's infection, any site" EXACT [DOID:13924, MTHICD9_2006:101]
synonym: "Vincent's stomatitis" RELATED [GARD:0005736]
xref: COHD:26908 {source="MONDO:equivalentTo"}
xref: DOID:13924 {source="MONDO:equivalentTo", source="EFO:1001058"}
xref: EFO:1001058 {source="MONDO:equivalentTo"}
xref: GARD:0005736 {source="MONDO:equivalentTo"}
xref: ICD10:A69.1 {source="DOID:13924"}
xref: ICD9:101 {source="DOID:13924", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005892 {source="DOID:13924", source="MONDO:equivalentTo", source="EFO:1001058"}
xref: NCIT:C34637 {source="DOID:13924", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001058"}
xref: SCTID:186963008 {source="DOID:13924", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0017575 {source="DOID:13924", source="MONDO:equivalentTo", source="GARD:0005736", source="NCIT:C34637"}
is_a: MONDO:0002508 {source="DOID:13924", source="MESH:D005892", source="NCIT:C34637"} ! gingivitis
property_value: closeMatch http://identifiers.org/snomedct/154391003
property_value: closeMatch http://identifiers.org/snomedct/171847006
property_value: closeMatch http://identifiers.org/snomedct/172697005
property_value: closeMatch http://identifiers.org/snomedct/173599005
property_value: closeMatch http://identifiers.org/snomedct/186960006
property_value: closeMatch http://identifiers.org/snomedct/186961005
property_value: closeMatch http://identifiers.org/snomedct/186962003
property_value: closeMatch http://identifiers.org/snomedct/186964002
property_value: closeMatch http://identifiers.org/snomedct/240675006
property_value: closeMatch http://identifiers.org/snomedct/266145002
property_value: closeMatch http://identifiers.org/snomedct/266146001
property_value: closeMatch http://identifiers.org/snomedct/266213004
property_value: closeMatch http://identifiers.org/snomedct/278519005
property_value: closeMatch http://identifiers.org/snomedct/30896000
property_value: closeMatch http://identifiers.org/snomedct/399050001
property_value: closeMatch http://identifiers.org/snomedct/707792000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527368
property_value: exactMatch DOID:13924
property_value: exactMatch http://identifiers.org/mesh/D005892
property_value: exactMatch http://identifiers.org/snomedct/186963008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017575
property_value: exactMatch NCIT:C34637

[Term]
id: MONDO:0006866
name: neonatal myasthenia gravis
def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941]
synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, ICD9CM_2006:775.2, MTH:NOCODE]
xref: DOID:14043 {source="EFO:1001059", source="MONDO:equivalentTo"}
xref: EFO:1001059 {source="MONDO:equivalentTo"}
xref: ICD9:775.2 {source="DOID:14043", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028963 {source="EFO:1001059"}
xref: MESH:D020941 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"}
xref: SCTID:82178003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"}
is_a: MONDO:0009688 {source="DOID:14043", source="EFO:1001059", source="MESH:D020941", source="linkedlifedata"} ! myasthenia gravis
property_value: closeMatch http://identifiers.org/meddra/10028963
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158982
property_value: exactMatch DOID:14043
property_value: exactMatch http://identifiers.org/mesh/D020941
property_value: exactMatch http://identifiers.org/snomedct/82178003

[Term]
id: MONDO:0006867
name: obsolete neovascular glaucoma
is_obsolete: true
replaced_by: MONDO:0019783

[Term]
id: MONDO:0006868
name: neurogenic bowel
def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496]
xref: COHD:201900 {source="MONDO:equivalentTo"}
xref: DOID:13419 {source="MONDO:equivalentTo", source="EFO:1001061"}
xref: EFO:1001061 {source="MONDO:equivalentTo"}
xref: ICD10:K59.2 {source="EFO:1001061"}
xref: ICD9:564.81 {source="DOID:13419", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10048657 {source="EFO:1001061"}
xref: MESH:D055496 {source="DOID:13419", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001061"}
xref: SCTID:425671009 {source="DOID:13419", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001061"}
xref: UMLS:C0695242 {source="DOID:13419", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:13419", source="EFO:1001061", source="MESH:D055496/inferred", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/meddra/10048657
property_value: exactMatch DOID:13419
property_value: exactMatch http://identifiers.org/mesh/D055496
property_value: exactMatch http://identifiers.org/snomedct/425671009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0695242

[Term]
id: MONDO:0006869
name: nodular goiter (disease)
def: "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." [NCIT:C131437]
synonym: "goiter, nodular" EXACT [DOID:13197, MTH:494, MTH:733]
synonym: "nodular goiter" EXACT [MONDO:ambiguous]
synonym: "nodular goiter NOS" RELATED EXCLUDE [DOID:13197, MTHICD9_2006:241.9]
synonym: "nodular goitre" EXACT [DOID:13197]
xref: DOID:13197 {source="MONDO:equivalentTo", source="EFO:1001062"}
xref: EFO:1001062 {source="MONDO:equivalentTo"}
xref: HP:0005994 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10018495 {source="EFO:1001062"}
xref: MESH:D006044 {source="MONDO:equivalentTo", source="DOID:13197", source="MONDO:ontobio", source="EFO:1001062"}
xref: NCIT:C131437 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:419153005 {source="MONDO:equivalentTo", source="DOID:13197", source="EFO:1001062", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018023 {source="NCIT:C131437", source="MONDO:equivalentTo", source="DOID:13197"}
is_a: MONDO:0005397 {source="DOID:13197", source="EFO:1001062", source="MESH:D006044", source="NCIT:C131437", source="linkedlifedata"} ! goiter (disease)
property_value: closeMatch http://identifiers.org/meddra/10018495
property_value: closeMatch http://identifiers.org/snomedct/190236006
property_value: exactMatch DOID:13197
property_value: exactMatch http://identifiers.org/mesh/D006044
property_value: exactMatch http://identifiers.org/snomedct/419153005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018023
property_value: exactMatch NCIT:C131437

[Term]
id: MONDO:0006870
name: obsolete noma
is_obsolete: true
replaced_by: MONDO:0017124

[Term]
id: MONDO:0006871
name: non-gestational choriocarcinoma
def: "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." [MESH:D031954]
xref: DOID:4320 {source="EFO:1001064", source="MONDO:equivalentTo"}
xref: EFO:1001064 {source="MONDO:equivalentTo"}
xref: MESH:D031954 {source="EFO:1001064", source="DOID:4320", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1135873 {source="DOID:4320", source="MONDO:equivalentTo"}
is_a: MONDO:0005207 {source="DOID:4320", source="EFO:1001064", source="MESH:D031954"} ! choriocarcinoma (disease)
property_value: exactMatch DOID:4320
property_value: exactMatch http://identifiers.org/mesh/D031954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135873

[Term]
id: MONDO:0006872
name: nut allergic reaction
def: "Allergic reaction to tree nuts that is triggered by the immune system." [MESH:D021184]
synonym: "022 tree nuts (tn) (ccpr) allergic disease" EXACT []
synonym: "allergy of 022 tree nuts (tn) (ccpr)" EXACT [MONDO:patterns/allergy]
synonym: "allergy to nuts" EXACT [DOID:4379]
synonym: "nut allergic reaction" EXACT [DOID:4379]
synonym: "nut allergy" RELATED [DOID:4379]
xref: DOID:4379 {source="EFO:1001066", source="MONDO:equivalentTo"}
xref: EFO:1001066 {source="MONDO:equivalentTo"}
xref: MESH:D021184 {source="EFO:1001066", source="DOID:4379", source="MONDO:equivalentTo"}
xref: SCTID:91934008 {source="DOID:4379", source="MONDO:equivalentTo"}
xref: UMLS:C0577620 {source="DOID:4379", source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:4379", source="EFO:1001066", source="MESH:D021184", source="linkedlifedata"} ! food allergy
property_value: closeMatch http://identifiers.org/snomedct/395654004
property_value: exactMatch DOID:4379
property_value: exactMatch http://identifiers.org/mesh/D021184
property_value: exactMatch http://identifiers.org/snomedct/91934008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0577620

[Term]
id: MONDO:0006873
name: nutritional deficiency disease
def: "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" [MESH:D003677]
synonym: "malnourished" EXACT [NCIT:C3669]
synonym: "malnutrition" RELATED []
xref: DOID:5113 {source="EFO:1001067", source="MONDO:equivalentTo"}
xref: EFO:1001067 {source="MONDO:equivalentTo"}
xref: ICD10:E40.E46 {source="MONDO:equivalentTo"}
xref: ICD9:269.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:269.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10046058 {source="EFO:1001067"}
xref: MESH:D003677 {source="DOID:5113", source="EFO:1001067", source="MONDO:equivalentTo"}
xref: NCIT:C3669 {source="MONDO:equivalentTo"}
xref: SCTID:363246002 {source="MONDO:equivalentTo"}
xref: SCTID:70241007 {source="EFO:1001067", source="MONDO:equivalentTo"}
is_a: MONDO:0005137 {source="DOID:5113", source="EFO:1001067", source="MESH:D003677/inferred", source="NCIT:C3669", source="linkedlifedata"} ! nutritional disorder
property_value: closeMatch http://identifiers.org/meddra/10046058
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011156
property_value: exactMatch DOID:5113
property_value: exactMatch http://identifiers.org/mesh/D003677
property_value: exactMatch http://identifiers.org/snomedct/363246002
property_value: exactMatch http://identifiers.org/snomedct/70241007
property_value: exactMatch NCIT:C3669

[Term]
id: MONDO:0006874
name: obstructive jaundice
def: "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." [NCIT:P378]
synonym: "cholestatic jaundice" EXACT [DOID:13603, NCIT:C34742]
synonym: "cholestatic jaundice syndrome" EXACT [DOID:13603]
synonym: "obstructive hyperbilirubinemia" EXACT [DOID:13603, MTH:U000257]
synonym: "obstructive jaundice NOS" RELATED EXCLUDE [DOID:13603]
xref: DOID:13603 {source="EFO:1001068", source="MONDO:equivalentTo"}
xref: EFO:1001068 {source="MONDO:equivalentTo"}
xref: MedDRA:10029982 {source="EFO:1001068"}
xref: MESH:D041781 {source="DOID:13603", source="EFO:1001068", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:44018007 {source="DOID:13603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0022354 {source="DOID:13603", source="MONDO:equivalentTo"}
is_a: MONDO:0001751 {source="DOID:13603", source="linkedlifedata"} ! cholestasis
is_a: MONDO:0006322 {source="EFO:1001068"} ! non-neoplastic bile duct disorder
property_value: closeMatch http://identifiers.org/meddra/10029982
property_value: closeMatch http://identifiers.org/snomedct/155832005
property_value: closeMatch http://identifiers.org/snomedct/197452009
property_value: closeMatch http://identifiers.org/snomedct/266545005
property_value: closeMatch http://identifiers.org/snomedct/59848001
property_value: exactMatch DOID:13603
property_value: exactMatch http://identifiers.org/mesh/D041781
property_value: exactMatch http://identifiers.org/snomedct/44018007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022354
property_value: exactMatch NCIT:C34742

[Term]
id: MONDO:0006875
name: ocular hypertension
def: "Abnormally high intraocular pressure." [NCIT:P378]
xref: COHD:381290 {source="MONDO:equivalentTo"}
xref: DOID:9282 {source="MONDO:equivalentTo", source="EFO:1001069"}
xref: EFO:1001069 {source="MONDO:equivalentTo"}
xref: ICD10:H40.05 {source="DOID:9282"}
xref: ICD9:365.04 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="i2s"}
xref: MedDRA:10030043 {source="EFO:1001069"}
xref: MESH:D009798 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="MONDO:ontobio"}
xref: SCTID:4210003 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0028840 {source="MONDO:equivalentTo", source="DOID:9282"}
is_a: MONDO:0005044 {source="EFO:1001069"} ! hypertensive disorder
is_a: MONDO:0005328 {source="DOID:9282", source="MESH:D009798", source="linkedlifedata"} ! eye disease
property_value: closeMatch http://identifiers.org/meddra/10030043
property_value: closeMatch http://identifiers.org/snomedct/155121008
property_value: closeMatch http://identifiers.org/snomedct/193536008
property_value: closeMatch http://identifiers.org/snomedct/267721003
property_value: exactMatch DOID:9282
property_value: exactMatch http://identifiers.org/mesh/D009798
property_value: exactMatch http://identifiers.org/snomedct/4210003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028840
property_value: exactMatch NCIT:C3285

[Term]
id: MONDO:0006876
name: ocular tuberculosis
def: "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." [MESH:D014392]
xref: EFO:1001070 {source="MONDO:equivalentTo"}
xref: ICD9:017.30 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:017.32 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014392 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001070"}
xref: SCTID:49107007 {source="MONDO:kboom-pr-1.00/0.75/7.19", source="MONDO:equivalentTo", source="EFO:1001070"}
xref: UMLS:C0041322 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="EFO:1001070", source="MESH:D014392", source="linkedlifedata"} ! tuberculosis
property_value: closeMatch DOID:233
property_value: exactMatch http://identifiers.org/mesh/D014392
property_value: exactMatch http://identifiers.org/snomedct/49107007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041322

[Term]
id: MONDO:0006877
name: oophoritis
def: "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." [MESH:D009869]
synonym: "inflammation of ovary" EXACT []
synonym: "ovary inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10974 {source="MONDO:equivalentTo", source="EFO:1001071"}
xref: EFO:1001071 {source="MONDO:equivalentTo"}
xref: ICD10:N70.92 {source="DOID:10974"}
xref: MedDRA:10030345 {source="EFO:1001071"}
xref: MESH:D009869 {source="DOID:10974", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001071"}
xref: SCTID:76047005 {source="DOID:10974", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1001071"}
xref: UMLS:C0029051 {source="DOID:10974", source="MONDO:equivalentTo"}
is_a: MONDO:0005558 {source="DOID:10974", source="EFO:1001071", source="MESH:D009869", source="MONDO:Redundant", source="linkedlifedata"} ! ovarian disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10030345
property_value: closeMatch http://identifiers.org/snomedct/155968004
property_value: closeMatch http://identifiers.org/snomedct/198148002
property_value: closeMatch http://identifiers.org/snomedct/266648001
property_value: exactMatch DOID:10974
property_value: exactMatch http://identifiers.org/mesh/D009869
property_value: exactMatch http://identifiers.org/snomedct/76047005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029051

[Term]
id: MONDO:0006878
name: Moraxellaceae infectious disease
def: "Infections with bacteria of the family moraxellaceae." [MESH:D045828]
synonym: "infection, Moraxella" RELATED [MESH:D045828]
synonym: "infection, Moraxellaceae" RELATED [MESH:D045828]
synonym: "infection, Psychobacter" RELATED [MESH:D045828]
synonym: "infections, Moraxella" RELATED [MESH:D045828]
synonym: "infections, Moraxellaceae" RELATED [MESH:D045828]
synonym: "infections, Psychobacter" RELATED [MESH:D045828]
synonym: "Moraxella infection" RELATED [MESH:D045828]
synonym: "Moraxella infections" RELATED [MESH:D045828]
synonym: "Moraxellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Moraxellaceae disease or disorder" EXACT []
synonym: "Moraxellaceae infection" RELATED [MESH:D045828]
synonym: "Psychobacter infection" RELATED [MESH:D045828]
synonym: "Psychobacter infections" RELATED [MESH:D045828]
xref: EFO:1001072 {source="MONDO:equivalentTo"}
xref: MESH:D045828 {source="MONDO:equivalentTo", source="EFO:1001072"}
is_a: MONDO:0021678 {source="MESH:D045828"} ! gram-negative bacterial infections
property_value: closeMatch DOID:3092
property_value: exactMatch http://identifiers.org/mesh/D045828

[Term]
id: MONDO:0006879
name: optic papillitis
def: "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211]
synonym: "Choked disk" EXACT [MESH:D010211]
synonym: "Choked disks" EXACT [MESH:D010211]
synonym: "decreased intraocular pressure associated papilledema" EXACT [MESH:D010211]
synonym: "decreased intraocular pressure-associated papilledema" EXACT [MESH:D010211]
synonym: "disk, Choked" EXACT [MESH:D010211]
synonym: "disks, Choked" EXACT [MESH:D010211]
synonym: "edema of the optic disc" EXACT [MESH:D010211]
synonym: "edema, optic disk" EXACT [MESH:D010211]
synonym: "edema, optic papilla" EXACT [MESH:D010211]
synonym: "edema, retinal" EXACT [MESH:D010211]
synonym: "Edemas, optic disk" EXACT [MESH:D010211]
synonym: "Edemas, retinal" EXACT [MESH:D010211]
synonym: "increased intracranial pressure associated papilledema" EXACT [MESH:D010211]
synonym: "increased intracranial pressure-associated papilledema" EXACT [MESH:D010211]
synonym: "inflammation of optic disc" EXACT []
synonym: "optic disc inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "optic discitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "optic disk edema" EXACT [MESH:D010211]
synonym: "optic nerve papillitis" EXACT [MESH:D010211]
synonym: "optic papilla edema" EXACT [MESH:D010211]
synonym: "optic papillitis" EXACT [MESH:D010211]
synonym: "papilledema associated with decreased intraocular pressure" EXACT [MESH:D010211]
synonym: "papilledema associated with increased intracranial pressure" EXACT [MESH:D010211]
synonym: "papillitis" EXACT [CSP2005:2042-6609, DOID:10175, MESH:D010211]
synonym: "papillitis, optic" EXACT [MESH:D010211]
synonym: "papillitis, optic nerve" EXACT [MESH:D010211]
synonym: "retinal edema" EXACT [MESH:D010211]
synonym: "retinal Edemas" EXACT [MESH:D010211]
xref: COHD:435269 {source="MONDO:equivalentTo"}
xref: DOID:10175 {source="EFO:1001074", source="MONDO:equivalentTo"}
xref: EFO:1001074 {source="MONDO:equivalentTo"}
xref: ICD10:H35.81 {source="DOID:10175"}
xref: ICD10:H46.0 {source="EFO:1001074", source="DOID:10175"}
xref: ICD10:H47.1 {source="DOID:10175"}
xref: ICD10:H47.10 {source="DOID:10175"}
xref: ICD10:H47.11 {source="DOID:10175"}
xref: ICD9:362.83 {source="DOID:10175", source="MONDO:directSiblingOf"}
xref: ICD9:377.0 {source="DOID:10175"}
xref: ICD9:377.00 {source="MONDO:relatedTo", source="DOID:10175"}
xref: ICD9:377.01 {source="DOID:10175"}
xref: ICD9:377.31 {source="EFO:1001074", source="MONDO:equivalentTo", source="i2s", source="DOID:10175"}
xref: MedDRA:10030948 {source="EFO:1001074"}
xref: MESH:D010211 {source="EFO:1001074", source="MONDO:equivalentTo", source="DOID:10175"}
xref: SCTID:73221001 {source="EFO:1001074", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.18", source="DOID:10175"}
is_a: MONDO:0002708 ! retinitis
is_a: MONDO:0005885 {source="DOID:10175", source="linkedlifedata"} ! optic neuritis
property_value: closeMatch http://identifiers.org/meddra/10030948
property_value: closeMatch http://identifiers.org/snomedct/111526001
property_value: closeMatch http://identifiers.org/snomedct/155187009
property_value: closeMatch http://identifiers.org/snomedct/193426002
property_value: closeMatch http://identifiers.org/snomedct/194038006
property_value: closeMatch http://identifiers.org/snomedct/194041002
property_value: closeMatch http://identifiers.org/snomedct/248487006
property_value: closeMatch http://identifiers.org/snomedct/3170006
property_value: closeMatch http://identifiers.org/snomedct/423488006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030353
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155288
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242420
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0919308
property_value: exactMatch DOID:10175
property_value: exactMatch http://identifiers.org/mesh/D010211
property_value: exactMatch http://identifiers.org/snomedct/73221001
property_value: exactMatch NCIT:C3307

[Term]
id: MONDO:0006880
name: oral leukoedema
def: "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" [MESH:D007967]
synonym: "leukedema of mouth" EXACT [DOID:4557]
xref: DOID:4557 {source="EFO:1001075", source="MONDO:equivalentTo"}
xref: EFO:1001075 {source="MONDO:equivalentTo"}
xref: ICD9:528.79 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10057365 {source="EFO:1001075"}
xref: MESH:D007967 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557", source="MONDO:ontobio"}
xref: SCTID:67795000 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023523 {source="MONDO:equivalentTo", source="DOID:4557"}
is_a: MONDO:0006858 {source="DOID:4557", source="EFO:1001075", source="MESH:D007967", source="linkedlifedata"} ! mouth disease
property_value: closeMatch http://identifiers.org/meddra/10057365
property_value: exactMatch DOID:4557
property_value: exactMatch http://identifiers.org/mesh/D007967
property_value: exactMatch http://identifiers.org/snomedct/67795000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023523

[Term]
id: MONDO:0006881
name: orbital cellulitis
def: "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." [NCIT:P378]
synonym: "orbital cellulitis" EXACT [DOID:11234]
xref: COHD:434942 {source="MONDO:equivalentTo"}
xref: DOID:11234 {source="EFO:1001076", source="MONDO:equivalentTo"}
xref: EFO:1001076 {source="MONDO:equivalentTo"}
xref: ICD10:H05.01 {source="DOID:11234"}
xref: ICD9:376.01 {source="EFO:1001076", source="MONDO:equivalentTo", source="i2s", source="DOID:11234"}
xref: MedDRA:10031036 {source="EFO:1001076"}
xref: MESH:D054517 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11234"}
xref: NCIT:C99000 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11234"}
xref: SCTID:194005002 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10", source="DOID:11234"}
xref: UMLS:C0149507 {source="MONDO:equivalentTo", source="NCIT:C99000", source="DOID:11234"}
is_a: MONDO:0001230 {source="DOID:11234"} ! acute orbital inflammation
is_a: MONDO:0005230 {source="EFO:1001076", source="MESH:D054517", source="NCIT:C99000", source="linkedlifedata", source="linkedlifedata/inferred"} ! cellulitis (disease)
property_value: closeMatch http://identifiers.org/meddra/10031036
property_value: exactMatch DOID:11234
property_value: exactMatch http://identifiers.org/mesh/D054517
property_value: exactMatch http://identifiers.org/snomedct/194005002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149507
property_value: exactMatch NCIT:C99000

[Term]
id: MONDO:0006882
name: orchitis (disease)
def: "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." [NCIT:P378]
synonym: "Inflammation of testis" EXACT [DOID:2518]
synonym: "inflammation of testis" EXACT []
synonym: "orchitis" EXACT [MONDO:ambiguous]
synonym: "Orchititis" EXACT [DOID:2518]
synonym: "testis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "testisitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2518 {source="EFO:1001078", source="MONDO:equivalentTo"}
xref: EFO:1001078 {source="MONDO:equivalentTo"}
xref: HP:0100796 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N45.2 {source="MONDO:equivalentTo", source="DOID:2518"}
xref: MedDRA:10031064 {source="EFO:1001078"}
xref: MESH:D009920 {source="EFO:1001078", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2518"}
xref: NCIT:C97145 {source="EFO:1001078", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2518"}
xref: SCTID:274718005 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518", source="MONDO:kboom-pr-1.00/0.80/9.44"}
xref: UMLS:C0029191 {source="MONDO:equivalentTo", source="NCIT:C97145", source="DOID:2518"}
is_a: MONDO:0002329 {source="DOID:2518", source="MESH:D009920", source="MONDO:Redundant", source="NCIT:C97145/inferred", source="linkedlifedata"} ! testicular disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10031064
property_value: closeMatch http://identifiers.org/snomedct/197984006
property_value: closeMatch http://identifiers.org/snomedct/197987004
property_value: closeMatch http://identifiers.org/snomedct/197990005
property_value: closeMatch http://identifiers.org/snomedct/29077001
property_value: closeMatch http://identifiers.org/snomedct/297229006
property_value: closeMatch http://identifiers.org/snomedct/367112009
property_value: exactMatch DOID:2518
property_value: exactMatch http://identifiers.org/mesh/D009920
property_value: exactMatch http://identifiers.org/snomedct/274718005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029191
property_value: exactMatch NCIT:C97145

[Term]
id: MONDO:0006883
name: malignant superior sulcus neoplasm
def: "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C7527]
synonym: "malignant pulmonary sulcus neoplasm" EXACT []
synonym: "malignant Superior sulcus lung neoplasm" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus lung tumor" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus neoplasm" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus neoplasm of lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus neoplasm of the lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus tumor" EXACT [DOID:8007, NCIT:C7527]
synonym: "malignant Superior sulcus tumor of lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus tumor of the lung" EXACT [NCIT:C7527]
synonym: "Pancoast tumor" EXACT [NCIT:C7527]
synonym: "Pancoast's syndrome" RELATED [DOID:8007]
synonym: "Pancoast's tumor" EXACT [NCIT:C7527]
synonym: "Pancoast's tumour" EXACT [DOID:8007]
synonym: "pulmonary sulcus neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "pulmonary sulcus tumor" EXACT EXCLUDE [DOID:8007]
synonym: "superior pulmonary sulcus syndrome" EXACT [DOID:8007]
synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007]
synonym: "superior sulcus tumor" RELATED []
xref: DOID:8007 {source="MONDO:equivalentTo", source="EFO:1001080"}
xref: EFO:1001080 {source="MONDO:equivalentTo"}
xref: NCIT:C7527 {source="DOID:8007", source="MONDO:equivalentTo"}
xref: SCTID:254638002 {source="DOID:8007", source="MONDO:equivalentTo", source="EFO:1001080"}
xref: UMLS:C0549471 {source="DOID:8007", source="MONDO:equivalentTo", source="NCIT:C7527"}
is_a: MONDO:0008903 {source="DOID:8007", source="MONDO:Redundant", source="NCIT:C7527", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung cancer
is_a: MONDO:0024813 {source="MONDO:Redundant", source="NCIT:C7527"} ! pulmonary sulcus neoplasm
relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1001080"} ! lung carcinoma
property_value: closeMatch http://identifiers.org/snomedct/154486000
property_value: closeMatch http://identifiers.org/snomedct/187860004
property_value: closeMatch http://identifiers.org/snomedct/269562004
property_value: closeMatch http://identifiers.org/snomedct/80367008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335574
property_value: exactMatch DOID:8007
property_value: exactMatch http://identifiers.org/snomedct/254638002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549471
property_value: exactMatch NCIT:C7527

[Term]
id: MONDO:0006884
name: panophthalmitis
def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202]
xref: COHD:438738 {source="MONDO:equivalentTo"}
xref: DOID:13732 {source="MONDO:equivalentTo", source="EFO:1001081"}
xref: EFO:1001081 {source="MONDO:equivalentTo"}
xref: ICD9:360.02 {source="MONDO:equivalentTo", source="i2s", source="DOID:13732"}
xref: MedDRA:10033683 {source="EFO:1001081"}
xref: MESH:D010202 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001081", source="DOID:13732"}
xref: SCTID:33382000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001081", source="DOID:13732"}
xref: UMLS:C0030332 {source="MONDO:equivalentTo", source="DOID:13732"}
is_a: MONDO:0001718 {source="DOID:13732", source="linkedlifedata"} ! scleritis (disease)
is_a: MONDO:0004863 {source="DOID:13732"} ! purulent endophthalmitis
property_value: closeMatch http://identifiers.org/meddra/10033683
property_value: exactMatch DOID:13732
property_value: exactMatch http://identifiers.org/mesh/D010202
property_value: exactMatch http://identifiers.org/snomedct/33382000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030332

[Term]
id: MONDO:0006886
name: thyroid gland papillary and follicular carcinoma
def: "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" [MESH:D018265]
synonym: "papillary and follicular adenocarcinoma" EXACT [NCIT:C7380]
synonym: "papillary and follicular carcinoma" EXACT [NCIT:C7380]
synonym: "papillary follicular thyroid adenocarcinoma" RELATED [DOID:3968]
synonym: "thyroid gland papillary and follicular carcinoma" EXACT [NCIT:C7380]
xref: DOID:3968 {source="MONDO:equivalentTo", source="EFO:1001083"}
xref: EFO:1001083 {source="MONDO:equivalentTo"}
xref: MESH:D018265 {source="MONDO:equivalentTo", source="DOID:3968", source="EFO:1001083"}
xref: NCIT:C7380 {source="MONDO:equivalentTo", source="DOID:3968"}
xref: UMLS:C0206683 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:3968", source="NCIT:C7380"}
is_a: MONDO:0005034 {source="MESH:D018265", source="MONDOLEX:0006886"} ! thyroid gland follicular carcinoma
is_a: MONDO:0005075 {source="DOID:3968", source="EFO:1001083", source="MONDO:Redundant"} ! thyroid gland papillary carcinoma
property_value: closeMatch http://identifiers.org/snomedct/189643000
property_value: closeMatch http://identifiers.org/snomedct/21968007
property_value: exactMatch DOID:3968
property_value: exactMatch http://identifiers.org/mesh/D018265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206683
property_value: exactMatch NCIT:C7380

[Term]
id: MONDO:0006887
name: parametritis
def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." [MESH:D010249]
synonym: "inflammation of parametrium" EXACT []
synonym: "parametrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pelvic cellulitis" EXACT [DOID:1260]
xref: DOID:1260 {source="MONDO:equivalentTo", source="EFO:1001084"}
xref: EFO:1001084 {source="MONDO:equivalentTo"}
xref: MESH:D010249 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001084", source="DOID:1260"}
xref: SCTID:280483007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1260"}
xref: UMLS:C0030455 {source="MONDO:equivalentTo", source="DOID:1260"}
is_a: MONDO:0000922 {source="DOID:1260", source="MESH:D010249"} ! pelvic inflammatory disease
is_a: MONDO:0002654 ! uterine disease
is_a: MONDO:0043786 ! serositis
is_a: MONDO:0045043 ! disease of uterine broad ligament
property_value: closeMatch http://identifiers.org/snomedct/198164005
property_value: closeMatch http://identifiers.org/snomedct/198165006
property_value: closeMatch http://identifiers.org/snomedct/37518008
property_value: exactMatch DOID:1260
property_value: exactMatch http://identifiers.org/mesh/D010249
property_value: exactMatch http://identifiers.org/snomedct/280483007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030455

[Term]
id: MONDO:0006888
name: paraneoplastic polyneuropathy
def: "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." [NCIT:C3981]
synonym: "paraneoplastic polyneuropathy" EXACT [NCIT:C3981]
xref: DOID:8681 {source="EFO:1001085", source="MONDO:equivalentTo"}
xref: EFO:1001085 {source="MONDO:equivalentTo"}
xref: ICD9:357.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:8681"}
xref: MedDRA:10062289 {source="EFO:1001085"}
xref: MESH:D020364 {source="EFO:1001085", source="MONDO:equivalentTo", source="DOID:8681", source="MONDO:ontobio"}
xref: NCIT:C3981 {source="EFO:1001085", source="MONDO:equivalentTo", source="NCIT:C3981", source="DOID:8681"}
xref: SCTID:77659000 {source="MONDO:equivalentTo", source="DOID:8681", source="MONDO:kboom-pr-1.00/0.74/6.26"}
xref: UMLS:C0270932 {source="MONDO:equivalentTo", source="NCIT:C3981", source="DOID:8681"}
is_a: MONDO:0001824 {source="MESH:D020364", source="MONDO:Redundant", source="MONDOLEX:0006888", source="NCIT:C3981"} ! polyneuropathy
is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:8681"} ! inflammatory and toxic neuropathy
property_value: closeMatch http://identifiers.org/meddra/10062289
property_value: closeMatch http://identifiers.org/snomedct/21361000119109
property_value: exactMatch DOID:8681
property_value: exactMatch http://identifiers.org/mesh/D020364
property_value: exactMatch http://identifiers.org/snomedct/77659000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270932
property_value: exactMatch NCIT:C3981

[Term]
id: MONDO:0006889
name: paraphimosis
def: "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." [NCIT:P378]
xref: DOID:5334 {source="EFO:1001086", source="MONDO:equivalentTo"}
xref: EFO:1001086 {source="MONDO:equivalentTo"}
xref: ICD10:N47.2 {source="DOID:5334", source="MONDO:equivalentTo"}
xref: MedDRA:10033890 {source="EFO:1001086"}
xref: MESH:D010263 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34893 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: SCTID:13758004 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0030483 {source="DOID:5334", source="MONDO:equivalentTo", source="NCIT:C34893"}
is_a: MONDO:0006904 {source="DOID:5334", source="MESH:D010263"} ! phimosis
property_value: closeMatch http://identifiers.org/meddra/10033890
property_value: closeMatch http://identifiers.org/snomedct/155922002
property_value: exactMatch DOID:5334
property_value: exactMatch http://identifiers.org/mesh/D010263
property_value: exactMatch http://identifiers.org/snomedct/13758004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030483
property_value: exactMatch NCIT:C34893

[Term]
id: MONDO:0006890
name: parathyroid gland adenoma
def: "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." [NCIT:C3916]
synonym: "adenoma of parathyroid" EXACT [DOID:7608, NCIT:C3916]
synonym: "adenoma of parathyroid gland" EXACT [NCIT:C3916]
synonym: "adenoma of the parathyroid" EXACT [NCIT:C3916]
synonym: "adenoma of the parathyroid gland" EXACT [DOID:7608, NCIT:C3916]
synonym: "parathyroid adenoma" EXACT [MONDO:ambiguous, NCIT:C3916]
synonym: "parathyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3916]
xref: DOID:7608 {source="EFO:1001087", source="MONDO:equivalentTo"}
xref: EFO:1001087 {source="MONDO:equivalentTo"}
xref: HP:0002897 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10033940 {source="EFO:1001087"}
xref: NCIT:C3916 {source="MONDO:equivalentTo", source="DOID:7608"}
xref: SCTID:128474007 {source="MONDO:kboom-pr-0.98/0.92/1.96", source="EFO:1001087", source="MONDO:equivalentTo", source="DOID:7608"}
xref: UMLS:C0262587 {source="NCIT:C3916", source="MONDO:equivalentTo", source="DOID:7608"}
is_a: MONDO:0004972 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916", source="linkedlifedata"} ! adenoma
is_a: MONDO:0021463 {source="MONDO:Redundant", source="NCIT:C3916", source="linkedlifedata"} ! benign neoplasm of parathyroid gland
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/meddra/10033940
property_value: closeMatch http://identifiers.org/mesh/D010282
property_value: exactMatch DOID:7608
property_value: exactMatch http://identifiers.org/snomedct/128474007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262587
property_value: exactMatch NCIT:C3916

[Term]
id: MONDO:0006891
name: partial motor epilepsy
def: "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." [NCIT:P378]
synonym: "epilepsy, focal motor" EXACT [DOID:3327]
synonym: "epilepsy, focal motor NOS" RELATED EXCLUDE [DOID:3327, MTHICD9_2006:345.5]
synonym: "focal motor seizure" EXACT [DOID:3327]
synonym: "focal motor seizure, NOS" RELATED EXCLUDE [DOID:3327]
xref: DOID:3327 {source="EFO:1001089", source="MONDO:equivalentTo"}
xref: EFO:1001089 {source="MONDO:equivalentTo"}
xref: ICD9:780.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020938 {source="EFO:1001089", source="MONDO:equivalentTo", source="DOID:3327", source="MONDO:ontobio"}
xref: SCTID:128612007 {source="MONDO:equivalentTo", source="DOID:3327", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005384 {source="DOID:3327", source="EFO:1001089", source="MESH:D020938"} ! partial epilepsy
property_value: closeMatch http://identifiers.org/snomedct/67139004
property_value: closeMatch http://identifiers.org/snomedct/82401000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016399
property_value: exactMatch DOID:3327
property_value: exactMatch http://identifiers.org/mesh/D020938
property_value: exactMatch http://identifiers.org/snomedct/128612007
property_value: exactMatch NCIT:C50847

[Term]
id: MONDO:0006892
name: partial sensory epilepsy
def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." [MESH:D020937]
xref: DOID:3330 {source="MONDO:equivalentTo", source="EFO:1001090"}
xref: EFO:1001090 {source="MONDO:equivalentTo"}
xref: MESH:D020937 {source="DOID:3330", source="MONDO:equivalentTo", source="EFO:1001090", source="MONDO:ontobio"}
is_a: MONDO:0005384 {source="DOID:3330", source="EFO:1001090", source="MESH:D020937"} ! partial epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752322
property_value: exactMatch DOID:3330
property_value: exactMatch http://identifiers.org/mesh/D020937

[Term]
id: MONDO:0006893
name: Pasteurella hemorrhagic septicemia
def: "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [MESH:D006483]
synonym: "bacteremia, haemorrhagic" RELATED [MESH:D006483]
synonym: "bacteremia, hemorrhagic" RELATED [MESH:D006483]
synonym: "haemorrhagic bacteremia" RELATED [MESH:D006483]
synonym: "haemorrhagic Septicaemia" RELATED [MESH:D006483]
synonym: "haemorrhagic septicemia" RELATED [MESH:D006483]
synonym: "hemorrhagic bacteremia" RELATED [MESH:D006483]
synonym: "hemorrhagic Septicaemia" RELATED [MESH:D006483]
synonym: "Septicaemia, haemorrhagic" RELATED [MESH:D006483]
synonym: "Septicaemia, hemorrhagic" RELATED [MESH:D006483]
synonym: "septicemia, haemorrhagic" RELATED [MESH:D006483]
synonym: "septicemia, hemorrhagic" RELATED [MESH:D006483]
xref: EFO:1001091 {source="MONDO:equivalentTo"}
xref: MESH:D006483 {source="MONDO:equivalentTo", source="EFO:1001091"}
xref: SCTID:198462004 {source="MONDO:equivalentTo", source="EFO:1001091"}
is_a: MONDO:0005229 ! bacterial infectious disease with sepsis
is_a: MONDO:0040998 ! Pasteurella multocida infectious disease
property_value: closeMatch DOID:11056
property_value: exactMatch http://identifiers.org/mesh/D006483
property_value: exactMatch http://identifiers.org/snomedct/198462004

[Term]
id: MONDO:0006894
name: patellofemoral pain syndrome
def: "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." [MESH:D046788]
xref: DOID:14284 {source="MONDO:equivalentTo", source="EFO:1001092"}
xref: EFO:1001092 {source="MONDO:equivalentTo"}
xref: MedDRA:10049143 {source="EFO:1001092"}
xref: MESH:D046788 {source="MONDO:equivalentTo", source="DOID:14284", source="MONDO:ontobio", source="EFO:1001092"}
xref: SCTID:430725003 {source="MONDO:equivalentTo", source="EFO:1001092"}
xref: UMLS:C0877149 {source="MONDO:equivalentTo", source="DOID:14284"}
is_a: MONDO:0006816 {source="DOID:14284", source="EFO:1001092", source="MESH:D046788", source="linkedlifedata/inferred"} ! arthropathy
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/meddra/10049143
property_value: exactMatch DOID:14284
property_value: exactMatch http://identifiers.org/mesh/D046788
property_value: exactMatch http://identifiers.org/snomedct/430725003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877149

[Term]
id: MONDO:0006895
name: penile neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:C3317]
synonym: "neoplasm of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317]
synonym: "neoplasm of the penis" EXACT [NCIT:C3317]
synonym: "penile neoplasm" EXACT [NCIT:C3317]
synonym: "penile neoplasms" EXACT [NCIT:C3317]
synonym: "penile tumor" EXACT [DOID:11624, NCIT:C3317]
synonym: "penis neoplasm" EXACT []
synonym: "penis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "penis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317]
synonym: "tumor of the penis" EXACT [NCIT:C3317]
xref: DOID:11624 {source="MONDO:equivalentTo", source="EFO:1001094"}
xref: EFO:1001094 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10061913 {source="EFO:1001094"}
xref: MESH:D010412 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"}
xref: NCIT:C3317 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"}
xref: ONCOTREE:PENIS {source="MONDO:equivalentTo"}
xref: SCTID:126896003 {source="DOID:11624", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0030849 {source="DOID:11624", source="MONDO:equivalentTo", source="NCIT:C3317"}
is_a: MONDO:0002036 {source="DOID:11624", source="MESH:D010412", source="MONDO:Redundant", source="NCIT:C3317", source="linkedlifedata"} ! penile disease
is_a: MONDO:0024582 ! male reproductive system neoplasm
property_value: closeMatch http://identifiers.org/meddra/10061913
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030851
property_value: closeMatch NCIT:C12409
property_value: exactMatch DOID:11624
property_value: exactMatch http://identifiers.org/mesh/D010412
property_value: exactMatch http://identifiers.org/snomedct/126896003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030849
property_value: exactMatch NCIT:C3317

[Term]
id: MONDO:0006896
name: peptic esophagitis
def: "inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." [MESH:D004942]
synonym: "peptic esophagitis" EXACT [DOID:13976, MTHICD9_2006:530.1]
synonym: "peptic reflux disease" EXACT [DOID:13976]
synonym: "reflux esophagitis" EXACT [CSP2005:1248-5846, DOID:13976]
synonym: "reflux oesophagitis" EXACT [DOID:13976]
xref: DOID:13976 {source="MONDO:equivalentTo", source="EFO:1001095"}
xref: EFO:1001095 {source="MONDO:equivalentTo"}
xref: ICD9:530.11 {source="DOID:13976"}
xref: MESH:D004942 {source="DOID:13976", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001095"}
xref: SCTID:57643001 {source="DOID:13976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/2.02", source="EFO:1001095"}
xref: UMLS:C0014869 {source="DOID:13976", source="MONDO:equivalentTo"}
is_a: MONDO:0001409 {source="DOID:13976", source="MESH:D004942"} ! esophagitis (disease)
is_a: MONDO:0004247 {source="DOID:13976", source="MESH:D004942"} ! peptic ulcer disease
is_a: MONDO:0044782 ! esophageal ulcer
property_value: closeMatch http://identifiers.org/snomedct/155673008
property_value: closeMatch http://identifiers.org/snomedct/196600005
property_value: closeMatch http://identifiers.org/snomedct/266498005
property_value: closeMatch http://identifiers.org/snomedct/54856001
property_value: exactMatch DOID:13976
property_value: exactMatch http://identifiers.org/mesh/D004942
property_value: exactMatch http://identifiers.org/snomedct/57643001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014869

[Term]
id: MONDO:0006897
name: periapical granuloma
def: "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." [MESH:D010484]
synonym: "apical granuloma" EXACT [DOID:4617]
synonym: "periapical granuloma" EXACT [DOID:4617]
xref: DOID:4617 {source="EFO:1001096", source="MONDO:equivalentTo"}
xref: EFO:1001096 {source="MONDO:equivalentTo"}
xref: MedDRA:10060985 {source="EFO:1001096"}
xref: MESH:D010484 {source="EFO:1001096", source="MONDO:equivalentTo", source="DOID:4617", source="MONDO:ontobio"}
xref: SCTID:81407003 {source="MONDO:equivalentTo", source="DOID:4617", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0031029 {source="MONDO:equivalentTo", source="DOID:4617"}
is_a: MONDO:0004508 {source="DOID:4617", source="MESH:D010484"} ! periapical periodontitis
property_value: closeMatch http://identifiers.org/meddra/10060985
property_value: closeMatch http://identifiers.org/snomedct/196344002
property_value: exactMatch DOID:4617
property_value: exactMatch http://identifiers.org/mesh/D010484
property_value: exactMatch http://identifiers.org/snomedct/81407003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031029

[Term]
id: MONDO:0006898
name: periarthritis
def: "Inflammation of the tissues around a joint. (Dorland, 27th ed)" [MESH:D010489]
xref: DOID:2964 {source="EFO:1001097", source="MONDO:equivalentTo"}
xref: EFO:1001097 {source="MONDO:equivalentTo"}
xref: ICD10:M77.9 {source="DOID:2964"}
xref: MedDRA:10034464 {source="EFO:1001097"}
xref: MESH:D010489 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964", source="MONDO:ontobio"}
xref: SCTID:50921008 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964", source="MONDO:kboom-pr-1.00/0.84/13.26"}
xref: UMLS:C0031037 {source="MONDO:equivalentTo", source="DOID:2964"}
is_a: MONDO:0002471 {source="DOID:2964", source="MESH:D010489"} ! bursitis
is_a: MONDO:0005578 {source="EFO:1001097", source="MESH:D010489", source="MONDOLEX:0006898"} ! arthritis
property_value: closeMatch http://identifiers.org/meddra/10034464
property_value: closeMatch http://identifiers.org/snomedct/156665008
property_value: closeMatch http://identifiers.org/snomedct/202892006
property_value: closeMatch http://identifiers.org/snomedct/268091003
property_value: exactMatch DOID:2964
property_value: exactMatch http://identifiers.org/mesh/D010489
property_value: exactMatch http://identifiers.org/snomedct/50921008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031037

[Term]
id: MONDO:0006899
name: pericoronitis
def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497]
xref: DOID:3671 {source="EFO:1001098", source="MONDO:equivalentTo"}
xref: EFO:1001098 {source="MONDO:equivalentTo"}
xref: MedDRA:10034504 {source="EFO:1001098"}
xref: MESH:D010497 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:22240003 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0031055 {source="DOID:3671", source="MONDO:equivalentTo"}
is_a: MONDO:0002021 {source="DOID:3671", source="MESH:D010497", source="linkedlifedata", source="linkedlifedata/inferred"} ! gingival disease
is_a: MONDO:0005076 {source="EFO:1001098"} ! periodontitis
property_value: closeMatch http://identifiers.org/meddra/10034504
property_value: exactMatch DOID:3671
property_value: exactMatch http://identifiers.org/mesh/D010497
property_value: exactMatch http://identifiers.org/snomedct/22240003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031055

[Term]
id: MONDO:0006900
name: perinephritis
def: "Inflammation of the connective and adipose tissues surrounding the kidney." [MESH:D010501]
synonym: "inflammation of perirenal fat" EXACT []
synonym: "perirenal fat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2982 {source="EFO:1001099", source="MONDO:equivalentTo"}
xref: EFO:1001099 {source="MONDO:equivalentTo"}
xref: MedDRA:10072058 {source="EFO:1001099"}
xref: MESH:D010501 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:111404004 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0031065 {source="DOID:2982", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005240 {source="DOID:2982", source="EFO:1001099", source="MESH:D010501", source="linkedlifedata"} ! kidney disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10072058
property_value: exactMatch DOID:2982
property_value: exactMatch http://identifiers.org/mesh/D010501
property_value: exactMatch http://identifiers.org/snomedct/111404004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031065

[Term]
id: MONDO:0006901
name: peritoneal neoplasm
def: "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [NCIT:C3322]
synonym: "neoplasm of peritoneum" EXACT [MONDO:patterns/neoplasm]
synonym: "peritoneal neoplasm" EXACT [NCIT:C3322]
synonym: "peritoneum neoplasm" EXACT []
synonym: "peritoneum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "peritoneum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of peritoneum" EXACT [MONDO:patterns/neoplasm]
xref: EFO:1001100 {source="MONDO:equivalentTo"}
xref: MedDRA:10061344 {source="EFO:1001100"}
xref: MESH:D010534 {source="EFO:1001100", source="MONDO:equivalentTo"}
xref: NCIT:C3322 {source="EFO:1001100", source="MONDO:equivalentTo"}
xref: SCTID:126865007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="EFO:1001100", source="MESH:D010534/inferred", source="MONDO:Redundant", source="MONDOLEX:0006901", source="NCIT:C3322/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease)
is_a: MONDO:0020591 ! disease of peritoneum
property_value: closeMatch DOID:4884
property_value: closeMatch http://identifiers.org/meddra/10061344
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031149
property_value: exactMatch http://identifiers.org/mesh/D010534
property_value: exactMatch http://identifiers.org/snomedct/126865007
property_value: exactMatch NCIT:C3322

[Term]
id: MONDO:0006902
name: obsolete periventricular leukomalacia
is_obsolete: true
replaced_by: MONDO:0015742

[Term]
id: MONDO:0006903
name: peroneal nerve paralysis
def: "Paralysis of the nerves located in the legs." [NCIT:P378]
synonym: "nerve palsy, peroneal" EXACT [NCIT:C27061]
synonym: "palsy, peroneal nerve" EXACT [NCIT:C27061]
synonym: "peroneal nerve palsy" EXACT [DOID:6925]
xref: DOID:6925 {source="MONDO:equivalentTo", source="EFO:1001102"}
xref: EFO:1001102 {source="MONDO:equivalentTo"}
xref: ICD10:G57.3 {source="DOID:6925"}
xref: MedDRA:10033828 {source="EFO:1001102"}
xref: NCIT:C27061 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001102", source="DOID:6925"}
xref: SCTID:399088004 {source="MONDO:equivalentTo", source="EFO:1001102"}
xref: UMLS:C0270810 {source="MONDO:equivalentTo", source="DOID:6925", source="NCIT:C27061"}
is_a: MONDO:0003620 {source="DOID:6925", source="NCIT:C27061/inferred", source="linkedlifedata/inferred"} ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/meddra/10033828
property_value: closeMatch http://identifiers.org/snomedct/34553007
property_value: exactMatch DOID:6925
property_value: exactMatch http://identifiers.org/snomedct/399088004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270810
property_value: exactMatch NCIT:C27061

[Term]
id: MONDO:0006904
name: phimosis
def: "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." [NCIT:P378]
synonym: "tight foreskin" EXACT [DOID:2712, MTHICD9_2006:605]
synonym: "tight frenulum" EXACT [DOID:2712]
xref: DOID:2712 {source="MONDO:equivalentTo", source="EFO:1001104"}
xref: EFO:1001104 {source="MONDO:equivalentTo"}
xref: ICD10:N47.1 {source="MONDO:equivalentTo", source="DOID:2712"}
xref: MedDRA:10034878 {source="EFO:1001104"}
xref: MESH:D010688 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104", source="MONDO:ontobio"}
xref: NCIT:C26852 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2712", source="EFO:1001104"}
xref: SCTID:449826002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2712", source="EFO:1001104"}
is_a: MONDO:0002036 {source="DOID:2712", source="MESH:D010688", source="NCIT:C26852/inferred", source="linkedlifedata/inferred"} ! penile disease
property_value: closeMatch http://identifiers.org/meddra/10034878
property_value: closeMatch http://identifiers.org/snomedct/155921009
property_value: closeMatch http://identifiers.org/snomedct/198005005
property_value: closeMatch http://identifiers.org/snomedct/198006006
property_value: closeMatch http://identifiers.org/snomedct/198007002
property_value: closeMatch http://identifiers.org/snomedct/266571009
property_value: closeMatch http://identifiers.org/snomedct/52743003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031538
property_value: exactMatch DOID:2712
property_value: exactMatch http://identifiers.org/mesh/D010688
property_value: exactMatch http://identifiers.org/snomedct/449826002
property_value: exactMatch NCIT:C26852

[Term]
id: MONDO:0006905
name: pigmented spindle cell nevus
def: "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." [NCIT:C4751]
synonym: "spindle cell Nevus of Reed" EXACT [NCIT:C4751]
xref: EFO:1001105 {source="MONDO:equivalentTo"}
xref: MESH:D018331 {source="MONDO:equivalentTo", source="EFO:1001105"}
xref: NCIT:C4751 {source="MONDO:equivalentTo", source="EFO:1001105", source="exact-label-match"}
xref: SCTID:254812004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="EFO:1001105", source="MESH:D018331/inferred", source="NCIT:C4751/inferred", source="linkedlifedata/inferred"} ! melanocytic nevus
property_value: closeMatch DOID:3239
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0474967
property_value: exactMatch http://identifiers.org/mesh/D018331
property_value: exactMatch http://identifiers.org/snomedct/254812004
property_value: exactMatch NCIT:C4751

[Term]
id: MONDO:0006906
name: pigmented villonodular synovitis
alt_id: MONDO:0004916
def: "Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment." [Orphanet:66627]
subset: gard_rare {source="GARD:0007396"}
subset: ordo_disease {source="Orphanet:66627"}
synonym: "diffuse Giant cell tumor of Tenosynovium" EXACT [DOID:2702]
synonym: "diffuse pigmented villonodular synovitis" NARROW [GARD:0007396]
synonym: "diffuse-type GCT" NARROW [Orphanet:66627]
synonym: "diffuse-type giant cell tumor" NARROW [Orphanet:66627]
synonym: "localized pigmented villonodular synovitis" NARROW [GARD:0007396]
synonym: "tenosynovial giant cell tumor" RELATED [Orphanet:66627]
synonym: "tenosynovial giant cell tumors" RELATED [GARD:0007396]
synonym: "TGCT" EXACT [Orphanet:66627]
synonym: "TSGCT" EXACT [Orphanet:66627]
synonym: "villonodular synovitis" RELATED [DOID:9898]
synonym: "villous tenosynovitis" EXACT [DOID:2702]
xref: COHD:81382 {source="MONDO:equivalentTo"}
xref: DOID:2702 {source="MONDO:equivalentTo", source="EFO:1001106"}
xref: DOID:9898 {source="MONDO:equivalentTo"}
xref: EFO:1001106 {source="MONDO:equivalentTo"}
xref: GARD:0007396 {source="MONDO:equivalentTo"}
xref: ICD10:M12.2 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702"}
xref: ICD10:M12.20 {source="DOID:9898"}
xref: ICD9:719.2 {source="DOID:9898"}
xref: ICD9:719.20 {source="DOID:9898", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:719.28 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013586 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="EFO:1001106", source="MONDO:ontobio"}
xref: Orphanet:66627 {source="MONDO:equivalentTo"}
xref: SCTID:95412009 {source="MONDO:equivalentTo", source="DOID:2702", source="EFO:1001106", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0039106 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702"}
is_a: MONDO:0002400 {source="DOID:2702", source="MESH:D013586"} ! synovitis (disease)
relationship: excluded_subClassOf MONDO:0002522 {source="EFO:1001106"} ! tenosynovial giant cell tumor
relationship: excluded_subClassOf MONDO:0006816 {source="DOID:9898"} ! arthropathy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/202423001
property_value: closeMatch http://identifiers.org/snomedct/202454002
property_value: closeMatch http://identifiers.org/snomedct/202903009
property_value: closeMatch http://identifiers.org/snomedct/34671005
property_value: closeMatch http://identifiers.org/snomedct/703703002
property_value: closeMatch http://identifiers.org/snomedct/71508003
property_value: closeMatch http://identifiers.org/snomedct/95411002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158168
property_value: exactMatch DOID:2702
property_value: exactMatch DOID:9898
property_value: exactMatch http://identifiers.org/mesh/D013586
property_value: exactMatch http://identifiers.org/snomedct/95412009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039106
property_value: exactMatch Orphanet:66627
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis xsd:anyURI {source="GARD:0007396"}

[Term]
id: MONDO:0006907
name: pilar sheath acanthoma
def: "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." [NCIT:C4468]
synonym: "acanthoma of Pilar sheath" EXACT [NCIT:C4468]
synonym: "acanthoma of the Pilar sheath" EXACT [NCIT:C4468]
synonym: "Infundibuloisthmicoma" EXACT [NCIT:C4468]
synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, NCIT:C4468]
xref: DOID:4322 {source="MONDO:equivalentTo", source="EFO:1001107"}
xref: EFO:1001107 {source="MONDO:equivalentTo"}
xref: NCIT:C4468 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="exact-label-match"}
xref: SCTID:254693008 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346005 {source="DOID:4322", source="MONDO:equivalentTo", source="NCIT:C4468"}
is_a: MONDO:0002093 {source="DOID:4322", source="NCIT:C4468"} ! acanthoma (disease)
property_value: exactMatch DOID:4322
property_value: exactMatch http://identifiers.org/snomedct/254693008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346005
property_value: exactMatch NCIT:C4468

[Term]
id: MONDO:0006908
name: pituitary apoplexy
def: "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." [NCIT:P378]
subset: ordo_disease {source="Orphanet:95613"}
synonym: "pituitary gland apoplexy" EXACT [NCIT:C26853]
xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"}
xref: EFO:1001108 {source="MONDO:equivalentTo"}
xref: ICD10:E23.6 {source="ORDO:95613/ntbt", source="Orphanet:95613"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056447 {source="ORDO:95613/e", source="Orphanet:95613", source="EFO:1001108"}
xref: MESH:D010899 {source="ORDO:95613/e", source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="MONDO:ontobio", source="EFO:1001108"}
xref: NCIT:C26853 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:95613 {source="MONDO:equivalentTo"}
xref: SCTID:237701005 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032001 {source="ORDO:95613/e", source="MONDO:equivalentTo", source="NCIT:C26853", source="Orphanet:95613", source="DOID:1129"}
is_a: MONDO:0001259 {source="DOID:1129", source="linkedlifedata"} ! pituitary gland infarction
is_a: MONDO:0019832 {source="Orphanet:95613"} ! acquired pituitary hormone deficiency
property_value: exactMatch DOID:1129
property_value: exactMatch http://identifiers.org/meddra/10056447
property_value: exactMatch http://identifiers.org/mesh/D010899
property_value: exactMatch http://identifiers.org/snomedct/237701005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032001
property_value: exactMatch NCIT:C26853
property_value: exactMatch Orphanet:95613

[Term]
id: MONDO:0006909
name: pituitary dwarfism
def: "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." [NCIT:P378]
xref: COHD:25780 {source="MONDO:equivalentTo"}
xref: EFO:1001109 {source="MONDO:equivalentTo"}
xref: ICD9:253.3 {source="MONDO:equivalentTo", source="i2s", source="EFO:1001109"}
xref: MedDRA:10035083 {source="EFO:1001109"}
xref: MESH:D004393 {source="MONDO:equivalentTo", source="EFO:1001109"}
xref: SCTID:367460001 {source="MONDO:equivalentTo", source="EFO:1001109", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005495 {source="EFO:1001109"} ! adrenal gland disease
property_value: closeMatch DOID:9405
property_value: exactMatch http://identifiers.org/mesh/D004393
property_value: exactMatch http://identifiers.org/snomedct/367460001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013338
property_value: exactMatch NCIT:C34555

[Term]
id: MONDO:0006910
name: obsolete pituitary-dependent Cushing disease
comment: Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS
is_obsolete: true
replaced_by: MONDO:0020528

[Term]
id: MONDO:0006911
name: obsolete placental site trophoblastic tumor
is_obsolete: true
replaced_by: MONDO:0020552

[Term]
id: MONDO:0006912
name: pneumatosis cystoides intestinalis
def: "The presence of gas within the wall of the large or small intestine." [NCIT:P378]
xref: DOID:13249 {source="MONDO:equivalentTo", source="EFO:1001113"}
xref: EFO:1001113 {source="MONDO:equivalentTo"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049732 {source="EFO:1001113"}
xref: MESH:D011006 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113", source="MONDO:ontobio"}
xref: SCTID:17465007 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032266 {source="DOID:13249", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:13249", source="EFO:1001113", source="MESH:D011006", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/meddra/10049732
property_value: closeMatch http://identifiers.org/snomedct/117631000119103
property_value: exactMatch DOID:13249
property_value: exactMatch http://identifiers.org/mesh/D011006
property_value: exactMatch http://identifiers.org/snomedct/17465007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032266
property_value: exactMatch NCIT:C122580

[Term]
id: MONDO:0006913
name: pneumococcal meningitis
def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586]
subset: ordo_disease {source="Orphanet:55655"}
synonym: "Streptococcus pneumoniae caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae infectious meningitis" EXACT []
xref: COHD:432879 {source="MONDO:equivalentTo"}
xref: EFO:1001114 {source="MONDO:equivalentTo"}
xref: ICD10:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="ORDO:55655/e"}
xref: ICD9:320.1 {source="EFO:1001114", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10027253 {source="Orphanet:55655", source="ORDO:55655/e"}
xref: MedDRA:10035645 {source="EFO:1001114"}
xref: MESH:D008586 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:55655/e"}
xref: Orphanet:55655 {source="MONDO:equivalentTo"}
xref: SCTID:51169003 {source="EFO:1001114", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025295 {source="Orphanet:55655", source="MONDO:equivalentTo", source="ORDO:55655/e"}
is_a: MONDO:0001316 ! streptococcal meningitis
is_a: MONDO:0005114 ! pneumococcal infection
is_a: MONDO:0015659 {source="Orphanet:55655"} ! infectious disease with epilepsy
property_value: closeMatch DOID:11575
property_value: closeMatch http://identifiers.org/meddra/10035645
property_value: exactMatch http://identifiers.org/meddra/10027253
property_value: exactMatch http://identifiers.org/mesh/D008586
property_value: exactMatch http://identifiers.org/snomedct/51169003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025295
property_value: exactMatch Orphanet:55655

[Term]
id: MONDO:0006914
name: obsolete POEMS syndrome
is_obsolete: true
replaced_by: MONDO:0017364

[Term]
id: MONDO:0006915
name: polyradiculoneuropathy
def: "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." [MESH:D011129]
xref: DOID:4308 {source="MONDO:equivalentTo", source="EFO:1001116"}
xref: EFO:1001116 {source="MONDO:equivalentTo"}
xref: MESH:D011129 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308", source="MONDO:ontobio"}
xref: SCTID:128078004 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0032587 {source="MONDO:equivalentTo", source="DOID:4308"}
is_a: MONDO:0001824 {source="DOID:4308", source="MESH:D011129", source="https://en.wikipedia.org/wiki/Polyradiculoneuropathy", source="linkedlifedata"} ! polyneuropathy
is_a: MONDO:0002562 {source="MESH:D011129"} ! demyelinating disease
property_value: exactMatch DOID:4308
property_value: exactMatch http://identifiers.org/mesh/D011129
property_value: exactMatch http://identifiers.org/snomedct/128078004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032587

[Term]
id: MONDO:0006916
name: postcholecystectomy syndrome
def: "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." [MESH:D017562]
xref: COHD:200444 {source="MONDO:equivalentTo"}
xref: DOID:9740 {source="MONDO:equivalentTo", source="EFO:1001117"}
xref: EFO:1001117 {source="MONDO:equivalentTo"}
xref: ICD10:K91.5 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"}
xref: ICD9:576.0 {source="MONDO:equivalentTo", source="i2s", source="EFO:1001117", source="DOID:9740"}
xref: MESH:D017562 {source="MONDO:equivalentTo", source="EFO:1001117", source="MONDO:ontobio", source="DOID:9740"}
xref: SCTID:90782003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001117", source="DOID:9740"}
xref: UMLS:C0152099 {source="MONDO:equivalentTo", source="DOID:9740"}
is_a: MONDO:0004868 {source="DOID:9740", source="MESH:D017562", source="linkedlifedata"} ! biliary tract disease
is_a: MONDO:0006026 {source="EFO:1001117"} ! urinary bladder disease
property_value: exactMatch DOID:9740
property_value: exactMatch http://identifiers.org/mesh/D017562
property_value: exactMatch http://identifiers.org/snomedct/90782003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152099

[Term]
id: MONDO:0006917
name: posterior cerebral artery infarction
def: "necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." [MESH:D020762]
xref: DOID:3821 {source="MONDO:equivalentTo", source="EFO:1001118"}
xref: EFO:1001118 {source="MONDO:equivalentTo"}
xref: MESH:D020762 {source="DOID:3821", source="MONDO:equivalentTo", source="EFO:1001118", source="MONDO:ontobio"}
xref: UMLS:C0752132 {source="DOID:3821", source="MONDO:equivalentTo"}
is_a: MONDO:0002679 {source="DOID:3821", source="MESH:D020762"} ! cerebral infarction
is_a: MONDO:0006693 {source="DOID:3821", source="MESH:D020762"} ! cerebral arterial disease
property_value: exactMatch DOID:3821
property_value: exactMatch http://identifiers.org/mesh/D020762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752132

[Term]
id: MONDO:0006918
name: posterior uveitis
def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866]
comment: Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD
subset: gard_rare
synonym: "chorioretinal region inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of chorioretinal region" EXACT [MONDO:DesignPattern, UBERON:0019207]
synonym: "uveitis, posterior" EXACT [DOID:12574, MTHICD9_2006:363.20]
xref: DOID:12574 {source="MONDO:equivalentTo", source="EFO:1001119"}
xref: EFO:1001119 {source="MONDO:equivalentTo"}
xref: GARD:0004457 {source="MONDO:equivalentTo"}
xref: MedDRA:10036370 {source="EFO:1001119"}
xref: MESH:D015866 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:12574", source="EFO:1001119"}
xref: SCTID:43363007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.79", source="DOID:12574", source="EFO:1001119"}
is_a: MONDO:0020283 {source="DOID:12574/inferred", source="EFO:1001119/inferred", source="MESH:D015866/inferred", source="NCIT:C35111", source="linkedlifedata"} ! uveitis (disease)
property_value: closeMatch http://identifiers.org/snomedct/193451001
property_value: exactMatch DOID:12574
property_value: exactMatch http://identifiers.org/mesh/D015866
property_value: exactMatch http://identifiers.org/snomedct/43363007

[Term]
id: MONDO:0006919
name: potassium deficiency
def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)" [MESH:D011191]
xref: EFO:1001120 {source="MONDO:equivalentTo"}
xref: MedDRA:10036445 {source="EFO:1001120"}
xref: MESH:D011191 {source="EFO:1001120", source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0006873 {source="EFO:1001120", source="MESH:D011191"} ! nutritional deficiency disease
property_value: closeMatch DOID:13582
property_value: closeMatch http://identifiers.org/meddra/10036445
property_value: exactMatch http://identifiers.org/mesh/D011191

[Term]
id: MONDO:0006920
name: prediabetes syndrome
def: "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." [NCIT:P378]
synonym: "borderline diabetes" EXACT [NCIT:C122685]
synonym: "prediabetes" EXACT [DOID:11716]
synonym: "prediabetic state" EXACT [CSP2005:0862-7400, DOID:11716]
xref: DOID:11716 {source="EFO:1001121", source="MONDO:equivalentTo"}
xref: EFO:1001121 {source="MONDO:equivalentTo"}
xref: ICD10:R73.09 {source="DOID:11716"}
xref: MedDRA:10065542 {source="EFO:1001121"}
xref: MESH:D011236 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122685 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0362046 {source="DOID:11716", source="MONDO:equivalentTo", source="NCIT:C122685"}
is_a: MONDO:0005015 {source="DOID:11716", source="EFO:1001121", source="MESH:D011236"} ! diabetes mellitus (disease)
property_value: closeMatch http://identifiers.org/meddra/10065542
property_value: closeMatch http://identifiers.org/snomedct/15777000
property_value: closeMatch http://identifiers.org/snomedct/714628002
property_value: closeMatch http://identifiers.org/snomedct/9414007
property_value: exactMatch DOID:11716
property_value: exactMatch http://identifiers.org/mesh/D011236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0362046
property_value: exactMatch NCIT:C122685

[Term]
id: MONDO:0006921
name: Actinomycetales infectious disease
def: "Infections with bacteria of the order actinomycetales." [MESH:D000193]
synonym: "Actinomycetales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Actinomycetales disease or disorder" EXACT []
synonym: "Actinomycetales Infection" RELATED [MSH:D000193, NCIT:C84534]
synonym: "Actinomycetales infection" RELATED [MESH:D000193, UMLS:C0001255]
synonym: "actinomycetales infection" EXACT [NCIT:C84534]
synonym: "actinomycetales infection" RELATED []
synonym: "Actinomycetales Infections" RELATED [MSH:D000193]
synonym: "Actinomycete Infection" RELATED [MSH:D000193]
synonym: "actinomycete infection" RELATED [MESH:D000193]
synonym: "Actinomycete Infections" RELATED [MSH:D000193]
synonym: "actinomycete infections" RELATED [MESH:D000193]
synonym: "actinomycosis" RELATED []
synonym: "actinomycotic infection" EXACT []
synonym: "actinomycotic infectious disease" EXACT [MONDO:0024390]
synonym: "Infection caused by Actinomycetales" RELATED [UMLS:C0001255]
synonym: "infection caused by actinomycetales" EXACT []
synonym: "Infection, Actinomycetales" RELATED [MSH:D000193]
synonym: "infection, Actinomycetales" RELATED [MESH:D000193]
synonym: "Infection, Actinomycete" RELATED [MSH:D000193]
synonym: "infection, actinomycete" RELATED [MESH:D000193]
synonym: "Infections, Actinomycetales" RELATED [MSH:D000193]
synonym: "infections, Actinomycetales" RELATED [MESH:D000193]
synonym: "Infections, Actinomycete" RELATED [MSH:D000193]
synonym: "infections, actinomycete" RELATED [MESH:D000193]
xref: EFO:1001122 {source="MONDO:equivalentTo"}
xref: ICD9:039.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:039.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000193 {source="EFO:1001122", source="MONDO:equivalentTo", source="UMLS:C0001255"}
xref: NCIT:C84534 {source="MONDO:equivalentTo", source="UMLS:C0001255"}
xref: SCTID:11817007 {source="MONDO:equivalentTo"}
xref: SCTID:721751007 {source="MONDO:equivalentTo", source="UMLS:C0001255"}
xref: UMLS:C0001255 {source="MONDO:equivalentTo"}
is_a: MONDO:0021679 {source="MESH:D000193", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gram-positive bacterial infections
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: closeMatch DOID:2313
property_value: exactMatch http://identifiers.org/mesh/D000193
property_value: exactMatch http://identifiers.org/snomedct/11817007
property_value: exactMatch http://identifiers.org/snomedct/721751007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001255
property_value: exactMatch NCIT:C84534

[Term]
id: MONDO:0006922
name: Anaplasmataceae infectious disease
def: "Infections with bacteria of the family anaplasmataceae." [MESH:D000711]
synonym: "Anaplasmataceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Anaplasmataceae disease or disorder" EXACT []
synonym: "Anaplasmataceae infection" RELATED [MESH:D000711]
synonym: "Haemobartonelloses" RELATED [MESH:D000711]
synonym: "Haemobartonellosis" RELATED [MESH:D000711]
synonym: "infection, Anaplasmataceae" RELATED [MESH:D000711]
synonym: "infections, Anaplasmataceae" RELATED [MESH:D000711]
xref: EFO:1001123 {source="MONDO:equivalentTo"}
xref: MESH:D000711 {source="EFO:1001123", source="MONDO:equivalentTo"}
xref: SCTID:422167001 {source="MONDO:equivalentTo"}
is_a: MONDO:0006956 ! Rickettsiosis
is_a: MONDO:0021678 {source="MESH:D000711"} ! gram-negative bacterial infections
property_value: closeMatch DOID:4351
property_value: exactMatch http://identifiers.org/mesh/D000711
property_value: exactMatch http://identifiers.org/snomedct/422167001

[Term]
id: MONDO:0006923
name: Bacillaceae infectious disease
def: "Infections with bacteria of the family bacillaceae." [MESH:D016863]
synonym: "Bacillaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacillaceae disease or disorder" EXACT []
synonym: "Bacillaceae infection" RELATED [MESH:D016863]
synonym: "infection, Bacillaceae" RELATED [MESH:D016863]
synonym: "infections, Bacillaceae" RELATED [MESH:D016863]
xref: EFO:1001124 {source="MONDO:equivalentTo"}
xref: MESH:D016863 {source="MONDO:equivalentTo", source="EFO:1001124"}
xref: UMLS:C0085389 {source="MONDO:equivalentTo"}
is_a: MONDO:0021679 {source="MESH:D016863"} ! gram-positive bacterial infections
property_value: closeMatch DOID:1938
property_value: exactMatch http://identifiers.org/mesh/D016863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085389

[Term]
id: MONDO:0006924
name: Bartonellaceae infectious disease
def: "Infections with bacteria of the family bartonellaceae." [MESH:D001476]
synonym: "Bartonellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonellaceae disease or disorder" EXACT []
synonym: "Bartonellaceae infection" RELATED [MESH:D001476]
synonym: "infection, Bartonellaceae" RELATED [MESH:D001476]
synonym: "infections, Bartonellaceae" RELATED [MESH:D001476]
xref: EFO:1001125 {source="MONDO:equivalentTo"}
xref: MESH:D001476 {source="EFO:1001125", source="MONDO:equivalentTo"}
xref: UMLS:C0004773 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D001476"} ! gram-negative bacterial infections
property_value: closeMatch DOID:2809
property_value: exactMatch http://identifiers.org/mesh/D001476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004773

[Term]
id: MONDO:0006925
name: Fusobacteriaceae infectious disease
def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." [MESH:D045825]
synonym: "Fusobacteriaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusobacteriaceae disease or disorder" EXACT []
synonym: "Fusobacteriaceae infection" RELATED [MESH:D045825]
synonym: "infection, Fusobacteriaceae" RELATED [MESH:D045825]
synonym: "infections, Fusobacteriaceae" RELATED [MESH:D045825]
xref: EFO:1001126 {source="MONDO:equivalentTo"}
xref: MESH:D045825 {source="MONDO:equivalentTo", source="EFO:1001126"}
xref: UMLS:C1258222 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D045825"} ! gram-negative bacterial infections
property_value: closeMatch DOID:563
property_value: exactMatch http://identifiers.org/mesh/D045825
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258222

[Term]
id: MONDO:0006926
name: haemophilus infectious disease
def: "Infections with bacteria of the genus haemophilus." [MESH:D006192]
synonym: "Haemophilus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Haemophilus disease or disorder" EXACT []
synonym: "Haemophilus infection" RELATED [MESH:D006192]
synonym: "Haemophilus infectious disease" EXACT []
synonym: "haemophilus infectious disease" EXACT []
synonym: "Hemophilus infection" RELATED [MESH:D006192]
synonym: "Hemophilus infections" RELATED [MESH:D006192]
synonym: "infection, Haemophilus" RELATED [MESH:D006192]
synonym: "infection, Hemophilus" RELATED [MESH:D006192]
synonym: "infections, Haemophilus" RELATED [MESH:D006192]
synonym: "infections, Hemophilus" RELATED [MESH:D006192]
xref: EFO:1001127 {source="MONDO:equivalentTo"}
xref: MESH:D006192 {source="MONDO:equivalentTo", source="EFO:1001127"}
xref: NCIT:C34654 {source="MONDO:equivalentTo"}
xref: SCTID:41659003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001127", source="MESH:D006192/inferred", source="MONDO:Redundant", source="NCIT:C34654", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: closeMatch DOID:10529
property_value: exactMatch http://identifiers.org/mesh/D006192
property_value: exactMatch http://identifiers.org/snomedct/41659003
property_value: exactMatch NCIT:C34654

[Term]
id: MONDO:0006927
name: Rickettsiaceae infectious disease
def: "Infections with bacteria of the family rickettsiaceae." [MESH:D012288]
synonym: "infection, Rickettsiaceae" RELATED [MESH:D012288]
synonym: "infections, Rickettsiaceae" RELATED [MESH:D012288]
synonym: "Rickettsiaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsiaceae disease or disorder" EXACT []
synonym: "Rickettsiaceae infection" RELATED [MESH:D012288]
synonym: "rickettsialpox" RELATED [MESH:D012288]
xref: EFO:1001128 {source="MONDO:equivalentTo"}
xref: MESH:D012288 {source="MONDO:equivalentTo", source="EFO:1001128"}
is_a: MONDO:0006956 ! Rickettsiosis
is_a: MONDO:0021678 {source="MESH:D012288"} ! gram-negative bacterial infections
property_value: closeMatch DOID:11099
property_value: exactMatch http://identifiers.org/mesh/D012288

[Term]
id: MONDO:0006928
name: proliferative vitreoretinopathy
def: "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." [MESH:D018630]
synonym: "retinitis proliferans" EXACT [DOID:9719]
xref: DOID:9719 {source="MONDO:equivalentTo", source="EFO:1001129"}
xref: EFO:1001129 {source="MONDO:equivalentTo"}
xref: MedDRA:10057896 {source="EFO:1001129"}
xref: MESH:D018630 {source="MONDO:equivalentTo", source="DOID:9719", source="EFO:1001129"}
xref: UMLS:C0242852 {source="MONDO:equivalentTo", source="DOID:9719"}
is_a: MONDO:0004860 {source="DOID:9719"} ! vitreous disease
is_a: MONDO:0020246 {source="EFO:1001129"} ! inherited vitreoretinopathy
property_value: closeMatch http://identifiers.org/meddra/10057896
property_value: closeMatch http://identifiers.org/snomedct/193364004
property_value: exactMatch DOID:9719
property_value: exactMatch http://identifiers.org/mesh/D018630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242852

[Term]
id: MONDO:0006929
name: Proteus infectious disease
def: "Infections with bacteria of the genus proteus." [MESH:D011512]
synonym: "infection, Proteus" RELATED [MESH:D011512]
synonym: "infections, Proteus" RELATED [MESH:D011512]
synonym: "Proteus <enterobacteria> caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Proteus <enterobacteria> disease or disorder" EXACT []
synonym: "Proteus <enterobacteria> infectious disease" EXACT []
synonym: "Proteus infection" RELATED [MESH:D011512]
xref: EFO:1001130 {source="MONDO:equivalentTo"}
xref: MESH:D011512 {source="EFO:1001130", source="MONDO:equivalentTo"}
xref: SCTID:186437007 {source="MONDO:equivalentTo"}
xref: UMLS:C0033700 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001130", source="MESH:D011512/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: closeMatch DOID:3881
property_value: exactMatch http://identifiers.org/mesh/D011512
property_value: exactMatch http://identifiers.org/snomedct/186437007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033700

[Term]
id: MONDO:0006930
name: pseudobulbar palsy
def: "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." [NCIT:C129934]
synonym: "pseudobulbar palsy" EXACT [DOID:12680, ICD9CM_2006:335.23]
synonym: "pseudobulbar paralysis" EXACT [CSP2005:4000-0300, DOID:12680]
xref: COHD:373190 {source="MONDO:equivalentTo"}
xref: DOID:12680 {source="EFO:1001131", source="MONDO:equivalentTo"}
xref: EFO:1001131 {source="MONDO:equivalentTo"}
xref: ICD9:335.23 {source="MONDO:equivalentTo", source="i2s", source="DOID:12680"}
xref: MedDRA:10037114 {source="EFO:1001131"}
xref: MESH:D020828 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680", source="MONDO:ontobio"}
xref: NCIT:C129934 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:7379000 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0033790 {source="MONDO:equivalentTo", source="DOID:12680", source="NCIT:C129934"}
is_a: MONDO:0003569 {source="NCIT:C129934", source="linkedlifedata", source="linkedlifedata/inferred"} ! cranial nerve neuropathy
relationship: excluded_subClassOf MONDO:0020128 {source="DOID:12680"} ! motor neuron disease
property_value: closeMatch http://identifiers.org/meddra/10037114
property_value: exactMatch DOID:12680
property_value: exactMatch http://identifiers.org/mesh/D020828
property_value: exactMatch http://identifiers.org/snomedct/7379000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033790
property_value: exactMatch NCIT:C129934

[Term]
id: MONDO:0006931
name: pulmonary coin lesion
def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." [MESH:D003074]
synonym: "coin lesion lung" EXACT [DOID:5364, MTHICD9_2006:793.1]
synonym: "coin lesion of lung" EXACT [DOID:5364]
synonym: "coin lesion of lung (context-dependent category)" EXACT [DOID:5364]
synonym: "coin lesion of lung (finding)" EXACT [DOID:5364]
xref: DOID:5364 {source="EFO:1001133", source="MONDO:equivalentTo"}
xref: EFO:1001133 {source="MONDO:equivalentTo"}
xref: ICD10:R91.1 {source="DOID:5364"}
xref: MESH:D003074 {source="EFO:1001133", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5364"}
xref: UMLS:C0009250 {source="MONDO:equivalentTo", source="DOID:5364"}
is_a: MONDO:0005275 {source="DOID:5364/inferred", source="MESH:D003074"} ! lung disease
relationship: excluded_subClassOf MONDO:0002732 {source="DOID:5364"} ! lung benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/158600006
property_value: closeMatch http://identifiers.org/snomedct/207405001
property_value: closeMatch http://identifiers.org/snomedct/308689002
property_value: closeMatch http://identifiers.org/snomedct/39347009
property_value: exactMatch DOID:5364
property_value: exactMatch http://identifiers.org/mesh/D003074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009250

[Term]
id: MONDO:0006932
name: pulmonary edema
def: "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." [NCIT:P378]
synonym: "edema, pulmonary" EXACT [NCIT:C26868]
xref: DOID:11396 {source="EFO:1001134", source="MONDO:equivalentTo"}
xref: EFO:1001134 {source="MONDO:equivalentTo"}
xref: ICD10:J81 {source="MONDO:equivalentTo", source="DOID:11396"}
xref: ICD10:J81.1 {source="DOID:11396"}
xref: MedDRA:10037375 {source="EFO:1001134"}
xref: MESH:D011654 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396", source="MONDO:ontobio"}
xref: NCIT:C26868 {source="EFO:1001134", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11396"}
xref: SCTID:19242006 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: UMLS:C0034063 {source="MONDO:equivalentTo", source="DOID:11396", source="NCIT:C26868"}
is_a: MONDO:0001208 {source="DOID:11396", source="NCIT:C26868"} ! acute respiratory failure
property_value: closeMatch http://identifiers.org/meddra/10037375
property_value: closeMatch http://identifiers.org/snomedct/196119001
property_value: closeMatch http://identifiers.org/snomedct/266408001
property_value: exactMatch DOID:11396
property_value: exactMatch http://identifiers.org/mesh/D011654
property_value: exactMatch http://identifiers.org/snomedct/19242006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034063
property_value: exactMatch NCIT:C26868

[Term]
id: MONDO:0006933
name: pulmonary plasma cell granuloma
def: "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." [MESH:D016726]
synonym: "granuloma, plasma cell, pulmonary" EXACT [DOID:3677]
synonym: "lymphocytic pseudotumor of lung" EXACT [DOID:3677]
synonym: "sclerosing hemangiocytoma of lung" EXACT [DOID:3677]
xref: DOID:3677 {source="MONDO:equivalentTo", source="EFO:1001135"}
xref: EFO:1001135 {source="MONDO:equivalentTo"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016726 {source="MONDO:equivalentTo", source="DOID:3677", source="EFO:1001135", source="MONDO:ontobio"}
xref: SCTID:1648002 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:3677"}
xref: UMLS:C0085269 {source="MONDO:equivalentTo", source="DOID:3677"}
is_a: MONDO:0005275 {source="DOID:3677", source="EFO:1001135", source="MESH:D016726", source="linkedlifedata"} ! lung disease
property_value: closeMatch http://identifiers.org/snomedct/254641006
property_value: closeMatch http://identifiers.org/snomedct/707373004
property_value: exactMatch DOID:3677
property_value: exactMatch http://identifiers.org/mesh/D016726
property_value: exactMatch http://identifiers.org/snomedct/1648002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085269

[Term]
id: MONDO:0006935
name: pulmonary subvalvular stenosis
def: "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." [NCIT:P378]
synonym: "congenital infundibular stenosis" EXACT [DOID:8861, NCIT:C34961]
synonym: "infundibular pulmonic stenosis" EXACT [DOID:8861]
synonym: "infundibular pulmonic stenosis, congenital" EXACT [DOID:8861, ICD9CM_2006:746.83]
synonym: "pulmonary infundibular stenosis" EXACT [DOID:8861]
synonym: "subvalvular pulmonic stenosis" EXACT [DOID:8861, MTHICD9_2006:746.83]
xref: DOID:8861 {source="MONDO:equivalentTo", source="EFO:1001137"}
xref: EFO:1001137 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.3 {source="DOID:8861"}
xref: ICD9:746.83 {source="MONDO:equivalentTo", source="i2s", source="DOID:8861"}
xref: MESH:D011662 {source="MONDO:equivalentTo", source="EFO:1001137", source="MONDO:ontobio", source="DOID:8861"}
xref: NCIT:C34961 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:8861"}
xref: SCTID:204370002 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo", source="DOID:8861"}
is_a: MONDO:0006936 {source="DOID:8861", source="MESH:D011662"} ! pulmonary valve stenosis
property_value: closeMatch http://identifiers.org/snomedct/3192005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034084
property_value: exactMatch DOID:8861
property_value: exactMatch http://identifiers.org/mesh/D011662
property_value: exactMatch http://identifiers.org/snomedct/204370002
property_value: exactMatch NCIT:C34961

[Term]
id: MONDO:0006936
name: pulmonary valve stenosis
def: "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666]
xref: DOID:6420 {source="MONDO:equivalentTo", source="EFO:1001138"}
xref: EFO:1001138 {source="MONDO:equivalentTo"}
xref: MedDRA:10037450 {source="EFO:1001138"}
xref: MESH:D011666 {source="MONDO:equivalentTo", source="EFO:1001138", source="DOID:6420"}
is_a: MONDO:0003628 {source="DOID:6420"} ! pulmonary valve disease
property_value: closeMatch http://identifiers.org/snomedct/56786000
property_value: exactMatch DOID:6420
property_value: exactMatch http://identifiers.org/mesh/D011666

[Term]
id: MONDO:0006937
name: pulpitis
def: "Inflammation of the dental pulp." [NCIT:P378]
synonym: "dental pulp inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of dental pulp" EXACT []
xref: COHD:437589 {source="MONDO:equivalentTo"}
xref: DOID:11121 {source="MONDO:equivalentTo", source="EFO:1001139"}
xref: EFO:1001139 {source="MONDO:equivalentTo"}
xref: ICD10:K04.0 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"}
xref: ICD9:522.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11121", source="EFO:1001139"}
xref: MedDRA:10037463 {source="EFO:1001139"}
xref: MESH:D011671 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139", source="MONDO:ontobio"}
xref: SCTID:32620007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11121", source="EFO:1001139"}
xref: UMLS:C0034103 {source="MONDO:equivalentTo", source="DOID:11121"}
is_a: MONDO:0003394 {source="DOID:11121", source="MESH:D011671", source="MONDO:Redundant", source="linkedlifedata"} ! dental pulp disease
is_a: MONDO:0005113 {source="EFO:1001139"} ! bacterial infectious disease
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: closeMatch http://identifiers.org/meddra/10037463
property_value: closeMatch http://identifiers.org/snomedct/155638006
property_value: closeMatch http://identifiers.org/snomedct/196331007
property_value: exactMatch DOID:11121
property_value: exactMatch http://identifiers.org/mesh/D011671
property_value: exactMatch http://identifiers.org/snomedct/32620007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034103
property_value: exactMatch NCIT:C52595

[Term]
id: MONDO:0006938
name: pyelitis
def: "Inflammation of the renal pelvis." [NCIT:P378]
synonym: "inflammation of renal pelvis" EXACT []
synonym: "renal pelvis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2744 {source="EFO:1001140", source="MONDO:equivalentTo"}
xref: EFO:1001140 {source="MONDO:equivalentTo"}
xref: ICD10:N12 {source="DOID:2744"}
xref: MedDRA:10037584 {source="EFO:1001140"}
xref: MESH:D011702 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744", source="MONDO:ontobio"}
xref: NCIT:C34964 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"}
xref: SCTID:27174002 {source="EFO:1001140", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2744"}
xref: UMLS:C0034183 {source="MONDO:equivalentTo", source="DOID:2744", source="NCIT:C34964"}
is_a: MONDO:0001166 ! nephritis
property_value: closeMatch http://identifiers.org/meddra/10037584
property_value: closeMatch http://identifiers.org/snomedct/197780007
property_value: exactMatch DOID:2744
property_value: exactMatch http://identifiers.org/mesh/D011702
property_value: exactMatch http://identifiers.org/snomedct/27174002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034183
property_value: exactMatch NCIT:C34964

[Term]
id: MONDO:0006939
name: pyelonephritis
def: "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." [NCIT:C34965]
synonym: "kidney infection" EXACT [NCIT:C34965]
synonym: "pyometrium" RELATED [MONDO:cjm]
xref: COHD:198199 {source="MONDO:equivalentTo"}
xref: DOID:11400 {source="EFO:1001141", source="MONDO:equivalentTo"}
xref: EFO:1001141 {source="MONDO:equivalentTo"}
xref: GARD:0012020 {source="MONDO:equivalentTo"}
xref: ICD10:N10-N16 {source="DOID:11400"}
xref: ICD10:N12 {source="DOID:11400"}
xref: ICD10:N16 {source="DOID:11400"}
xref: ICD9:590.80 {source="MONDO:equivalentTo", source="i2s", source="DOID:11400"}
xref: MedDRA:10037596 {source="EFO:1001141"}
xref: MESH:D011704 {source="EFO:1001141", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11400"}
xref: NCIT:C34965 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"}
xref: SCTID:45816000 {source="EFO:1001141", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11400"}
xref: UMLS:C0034186 {source="MONDO:equivalentTo", source="NCIT:C34965", source="DOID:11400"}
is_a: MONDO:0001786 {source="MONDO:cjm"} ! uterine inflammatory disease
is_a: MONDO:0005247 {source="NCIT:C34965", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary tract infection (disease)
is_a: MONDO:0006938 {source="DOID:11400", source="MESH:D011704"} ! pyelitis
property_value: closeMatch http://identifiers.org/meddra/10037596
property_value: closeMatch http://identifiers.org/snomedct/197779009
property_value: closeMatch http://identifiers.org/snomedct/197784003
property_value: exactMatch DOID:11400
property_value: exactMatch http://identifiers.org/mesh/D011704
property_value: exactMatch http://identifiers.org/snomedct/45816000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034186
property_value: exactMatch NCIT:C34965

[Term]
id: MONDO:0006940
name: radial nerve lesion
def: "A peripheral nerve lesion that involves the radial nerve." [MONDO:patterns/location]
synonym: "lesion of radial nerve" EXACT [DOID:12170, ICD9CM_2006:354.3]
synonym: "lesion of radial nerve, NOS" RELATED EXCLUDE [DOID:12170]
synonym: "peripheral nerve lesion of radial nerve" EXACT [MONDO:design_pattern]
synonym: "radial nerve lesions" EXACT [DOID:12170]
synonym: "radial nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:141004 {source="MONDO:equivalentTo"}
xref: DOID:12170 {source="EFO:1001143", source="MONDO:equivalentTo"}
xref: EFO:1001143 {source="MONDO:equivalentTo"}
xref: ICD10:G56.3 {source="EFO:1001143", source="DOID:12170"}
xref: ICD10:G56.30 {source="DOID:12170"}
xref: ICD9:354.3 {source="DOID:12170", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10061477 {source="EFO:1001143"}
xref: SCTID:193137006 {source="EFO:1001143", source="DOID:12170", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154744 {source="DOID:12170", source="MONDO:equivalentTo"}
is_a: MONDO:0001459 {source="DOID:12170", source="MONDO:Redundant", source="linkedlifedata"} ! radial neuropathy
is_a: MONDO:0003607 {source="DOID:12170"} ! neuritis of upper limb
is_a: MONDO:0006682 ! brachial plexus neuritis
is_a: MONDO:0024334 ! peripheral nerve lesion
property_value: closeMatch http://identifiers.org/meddra/10061477
property_value: closeMatch http://identifiers.org/snomedct/193140006
property_value: exactMatch DOID:12170
property_value: exactMatch http://identifiers.org/snomedct/193137006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154744

[Term]
id: MONDO:0006941
name: rat-bite fever
def: "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." [NCIT:C34971]
subset: gard_rare {source="GARD:0009557"}
subset: ordo_disease {source="Orphanet:31205"}
synonym: "rat bite fever" RELATED [GARD:0009557]
synonym: "spirillosis" EXACT [NCIT:C34971]
synonym: "Streptobacillosis" EXACT [NCIT:C34971]
xref: COHD:433690 {source="MONDO:equivalentTo"}
xref: EFO:1001144 {source="MONDO:equivalentTo"}
xref: GARD:0009557 {source="MONDO:equivalentTo"}
xref: ICD10:A25.0 {source="Orphanet:31205", source="ORDO:31205/btnt"}
xref: ICD10:A25.1 {source="Orphanet:31205", source="ORDO:31205/btnt"}
xref: ICD10:A25.9 {source="Orphanet:31205", source="ORDO:31205/btnt"}
xref: ICD9:026.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10037904 {source="ORDO:31205/e", source="Orphanet:31205"}
xref: MESH:D011906 {source="ORDO:31205/e", source="Orphanet:31205", source="EFO:1001144", source="MONDO:equivalentTo"}
xref: NCIT:C34971 {source="MONDO:kboom-pr-0.93/0.87/0.07", source="MONDO:equivalentTo"}
xref: Orphanet:31205 {source="MONDO:equivalentTo"}
xref: SCTID:1685005 {source="EFO:1001144", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.99"}
xref: UMLS:C0034686 {source="ORDO:31205/e", source="Orphanet:31205", source="MONDO:equivalentTo", source="NCIT:C34971"}
is_a: MONDO:0005113 {source="EFO:1001144", source="MESH:D011906/inferred", source="MONDO:Redundant", source="NCIT:C34971/inferred", source="Orphanet:31205", source="linkedlifedata"} ! bacterial infectious disease
is_a: MONDO:0100120 ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch DOID:12097
property_value: exactMatch http://identifiers.org/meddra/10037904
property_value: exactMatch http://identifiers.org/mesh/D011906
property_value: exactMatch http://identifiers.org/snomedct/1685005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034686
property_value: exactMatch NCIT:C34971
property_value: exactMatch Orphanet:31205
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever xsd:anyURI {source="GARD:0009557"}

[Term]
id: MONDO:0006942
name: obsolete reflex epilepsy
is_obsolete: true
replaced_by: MONDO:0017768

[Term]
id: MONDO:0006943
name: obsolete relapsing polychondritis
is_obsolete: true
replaced_by: MONDO:0019125

[Term]
id: MONDO:0006944
name: renal aminoaciduria
def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." [MESH:D000608]
xref: EFO:1001149 {source="MONDO:equivalentTo"}
xref: MedDRA:10001939 {source="EFO:1001149"}
xref: MESH:D000608 {source="MONDO:equivalentTo", source="EFO:1001149", source="MONDO:ontobio"}
xref: SCTID:35912001 {source="MONDO:equivalentTo", source="EFO:1001149"}
is_a: MONDO:0005240 {source="EFO:1001149", source="MESH:D000608/inferred"} ! kidney disease
property_value: closeMatch DOID:1061
property_value: closeMatch http://identifiers.org/meddra/10001939
property_value: exactMatch http://identifiers.org/mesh/D000608
property_value: exactMatch http://identifiers.org/snomedct/35912001

[Term]
id: MONDO:0006945
name: renal artery obstruction
def: "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." [MESH:D012078]
xref: DOID:2972 {source="MONDO:equivalentTo", source="EFO:1001150"}
xref: EFO:1001150 {source="MONDO:equivalentTo"}
xref: ICD10:N28.0 {source="DOID:2972"}
xref: MESH:D012078 {source="DOID:2972", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001150"}
xref: UMLS:C0035066 {source="DOID:2972", source="MONDO:equivalentTo"}
is_a: MONDO:0002286 {source="DOID:2972"} ! renal artery disease
property_value: exactMatch DOID:2972
property_value: exactMatch http://identifiers.org/mesh/D012078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035066

[Term]
id: MONDO:0006946
name: renal osteodystrophy
def: "Abnormalities of bone mineral metabolism associated with chronic kidney disease." [NCIT:P378]
synonym: "Osteodystrophies, renal" RELATED [MESH:D012080]
synonym: "osteodystrophy, renal" RELATED [MESH:D012080]
synonym: "renal Osteodystrophies" RELATED [MESH:D012080]
synonym: "renal rickets" EXACT [DOID:13068, MESH:D012080]
synonym: "rickets, renal" RELATED [MESH:D012080]
xref: COHD:197921 {source="MONDO:equivalentTo"}
xref: DOID:13068 {source="EFO:1001152", source="MONDO:equivalentTo"}
xref: EFO:1001152 {source="MONDO:equivalentTo"}
xref: GARD:0007551 {source="MONDO:equivalentTo"}
xref: ICD10:N25.0 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"}
xref: ICD9:588.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13068"}
xref: MedDRA:10038489 {source="EFO:1001152"}
xref: MESH:D012080 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068", source="MONDO:ontobio"}
xref: SCTID:16726004 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0035086 {source="MONDO:equivalentTo", source="DOID:13068"}
is_a: MONDO:0001530 ! secondary hyperparathyroidism of renal origin
is_a: MONDO:0005520 {source="MESH:D012080"} ! rickets (disease)
property_value: closeMatch http://identifiers.org/meddra/10038489
property_value: closeMatch http://identifiers.org/snomedct/155858005
property_value: closeMatch http://identifiers.org/snomedct/197668007
property_value: closeMatch http://identifiers.org/snomedct/266617009
property_value: exactMatch DOID:13068
property_value: exactMatch http://identifiers.org/mesh/D012080
property_value: exactMatch http://identifiers.org/snomedct/16726004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035086
property_value: exactMatch NCIT:C114827

[Term]
id: MONDO:0006947
name: renovascular hypertension (disease)
def: "High blood pressure secondary to renal artery stenosis." [NCIT:P378]
synonym: "renovascular hypertension" EXACT [MONDO:ambiguous]
xref: COHD:317895 {source="MONDO:equivalentTo"}
xref: DOID:1591 {source="EFO:1001153", source="MONDO:equivalentTo"}
xref: EFO:1001153 {source="MONDO:equivalentTo"}
xref: HP:0100817 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I15.0 {source="MONDO:equivalentTo", source="DOID:1591"}
xref: ICD9:405.91 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:123799005 {source="EFO:1001153", source="MONDO:equivalentTo", source="DOID:1591", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020545 {source="MONDO:equivalentTo", source="DOID:1591"}
is_a: MONDO:0001105 {source="DOID:1591", source="EFO:1001153", source="linkedlifedata"} ! renal hypertension
property_value: closeMatch http://identifiers.org/mesh/D006978
property_value: closeMatch http://identifiers.org/snomedct/194790006
property_value: exactMatch DOID:1591
property_value: exactMatch http://identifiers.org/snomedct/123799005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020545
property_value: exactMatch NCIT:C85044

[Term]
id: MONDO:0006948
name: retinal artery occlusion
def: "An occlusion of the retinal artery." [NCIT:P378]
xref: DOID:8483 {source="EFO:1001154", source="MONDO:equivalentTo"}
xref: EFO:1001154 {source="MONDO:equivalentTo"}
xref: MedDRA:10038827 {source="EFO:1001154"}
xref: MESH:D015356 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"}
xref: NCIT:C34978 {source="EFO:1001154", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:8483"}
xref: SCTID:232035005 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035302 {source="MONDO:equivalentTo", source="DOID:8483", source="NCIT:C34978"}
is_a: MONDO:0002089 {source="DOID:8483", source="NCIT:C34978", source="linkedlifedata"} ! retinal vascular occlusion
property_value: closeMatch http://identifiers.org/meddra/10038827
property_value: exactMatch DOID:8483
property_value: exactMatch http://identifiers.org/mesh/D015356
property_value: exactMatch http://identifiers.org/snomedct/232035005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035302
property_value: exactMatch NCIT:C34978

[Term]
id: MONDO:0006949
name: retinal drusen
def: "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." [MESH:D015593]
xref: DOID:2569 {source="EFO:1001155", source="MONDO:equivalentTo"}
xref: EFO:1001155 {source="MONDO:equivalentTo"}
xref: ICD9:362.57 {source="DOID:2569"}
xref: MedDRA:10062776 {source="EFO:1001155"}
xref: MESH:D015593 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569", source="MONDO:ontobio"}
xref: SCTID:247153005 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569"}
xref: UMLS:C0035312 {source="MONDO:equivalentTo", source="DOID:2569"}
is_a: MONDO:0002175 {source="DOID:2569"} ! degeneration of macula and posterior pole
property_value: closeMatch http://identifiers.org/meddra/10062776
property_value: closeMatch http://identifiers.org/snomedct/141199000
property_value: closeMatch http://identifiers.org/snomedct/163999003
property_value: exactMatch DOID:2569
property_value: exactMatch http://identifiers.org/mesh/D015593
property_value: exactMatch http://identifiers.org/snomedct/247153005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035312

[Term]
id: MONDO:0006950
name: retinal vasculitis
def: "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis." [MESH:D031300]
synonym: "retinal vasculitis" EXACT [DOID:11563, ICD9CM_2006:362.18]
xref: COHD:436403 {source="MONDO:equivalentTo"}
xref: DOID:11563 {source="EFO:1001156", source="MONDO:equivalentTo"}
xref: EFO:1001156 {source="MONDO:equivalentTo"}
xref: ICD10:H35.06 {source="DOID:11563"}
xref: ICD9:362.18 {source="EFO:1001156", source="MONDO:equivalentTo", source="i2s", source="DOID:11563"}
xref: MedDRA:10038905 {source="EFO:1001156"}
xref: MESH:D031300 {source="EFO:1001156", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11563"}
xref: SCTID:77628002 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152026 {source="MONDO:equivalentTo", source="DOID:11563"}
is_a: MONDO:0002311 {source="DOID:11563", source="linkedlifedata"} ! retinal vascular disease
is_a: MONDO:0002708 ! retinitis
is_a: MONDO:0018882 {source="DOID:11563", source="EFO:1001156", source="MESH:D031300", source="MONDO:Redundant", source="linkedlifedata"} ! vasculitis
property_value: closeMatch http://identifiers.org/meddra/10038905
property_value: closeMatch http://identifiers.org/snomedct/193367006
property_value: exactMatch DOID:11563
property_value: exactMatch http://identifiers.org/mesh/D031300
property_value: exactMatch http://identifiers.org/snomedct/77628002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152026

[Term]
id: MONDO:0006951
name: retinal vein occlusion
def: "An occlusion of the retinal vein." [NCIT:P378]
synonym: "occlusion, of retinal vein" EXACT [DOID:1727, MTHICD9_2006:362.37]
synonym: "retinal vein occlusion" EXACT [DOID:1727]
xref: DOID:1727 {source="MONDO:equivalentTo", source="EFO:1001157"}
xref: EFO:1001157 {source="MONDO:equivalentTo"}
xref: MedDRA:10038907 {source="EFO:1001157"}
xref: MESH:D012170 {source="MONDO:equivalentTo", source="EFO:1001157", source="MONDO:ontobio", source="DOID:1727"}
xref: NCIT:C34981 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001157", source="DOID:1727"}
xref: SCTID:46085004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.92", source="DOID:1727"}
xref: UMLS:C0035328 {source="MONDO:equivalentTo", source="NCIT:C34981", source="DOID:1727"}
is_a: MONDO:0002089 {source="DOID:1727", source="NCIT:C34981"} ! retinal vascular occlusion
property_value: closeMatch http://identifiers.org/meddra/10038907
property_value: exactMatch DOID:1727
property_value: exactMatch http://identifiers.org/mesh/D012170
property_value: exactMatch http://identifiers.org/snomedct/46085004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035328
property_value: exactMatch NCIT:C34981

[Term]
id: MONDO:0006952
name: retinopathy of prematurity
def: "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." [NCIT:P378]
subset: ordo_disease {source="Orphanet:90050"}
synonym: "premature retinopathy" EXACT [CSP2005:1114-9578, DOID:13025]
synonym: "retrolental fibroplasia" EXACT [DOID:13025, ICD9CM_2006:362.21, Orphanet:90050]
synonym: "ROP" EXACT [Orphanet:90050]
synonym: "Terry syndrome" EXACT [NCIT:C34982]
xref: COHD:373766 {source="MONDO:equivalentTo"}
xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"}
xref: EFO:1001158 {source="MONDO:equivalentTo"}
xref: GARD:0005695 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="ORDO:90050/e", source="DOID:13025"}
xref: ICD10:H35.10 {source="DOID:13025"}
xref: ICD10:H35.17 {source="DOID:13025"}
xref: ICD9:362.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:13025"}
xref: ICD9:362.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:13025"}
xref: MedDRA:10038933 {source="Orphanet:90050", source="EFO:1001158", source="ORDO:90050/e"}
xref: MESH:D012178 {source="Orphanet:90050", source="EFO:1001158", source="MONDO:equivalentTo", source="ORDO:90050/e", source="DOID:13025"}
xref: NCIT:C34982 {source="EFO:1001158", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20", source="DOID:13025"}
xref: Orphanet:90050 {source="MONDO:equivalentTo"}
xref: SCTID:415297005 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0035344 {source="Orphanet:90050", source="MONDO:equivalentTo", source="NCIT:C34982", source="ORDO:90050/e", source="DOID:13025"}
is_a: MONDO:0005283 {source="DOID:13025", source="EFO:1001158", source="MESH:D012178", source="MONDOLEX:0006952", source="NCIT:C34982", source="linkedlifedata"} ! retinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155110004
property_value: closeMatch http://identifiers.org/snomedct/74277007
property_value: exactMatch DOID:13025
property_value: exactMatch http://identifiers.org/meddra/10038933
property_value: exactMatch http://identifiers.org/mesh/D012178
property_value: exactMatch http://identifiers.org/snomedct/415297005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035344
property_value: exactMatch NCIT:C34982
property_value: exactMatch Orphanet:90050

[Term]
id: MONDO:0006953
name: Rh isoimmunization
def: "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." [NCIT:P378]
synonym: "Rh incompatibility affecting management of mother" EXACT [DOID:4175, MTHICD9_2006:656.1]
xref: DOID:4175 {source="MONDO:equivalentTo", source="EFO:1001159"}
xref: EFO:1001159 {source="MONDO:equivalentTo"}
xref: MedDRA:10039016 {source="EFO:1001159"}
xref: SCTID:44795003 {source="MONDO:equivalentTo", source="DOID:4175"}
xref: UMLS:C0035404 {source="MONDO:equivalentTo", source="DOID:4175"}
is_a: MONDO:0002901 {source="DOID:4175"} ! blood group incompatibility
property_value: closeMatch http://identifiers.org/meddra/10039016
property_value: closeMatch http://identifiers.org/mesh/D012203
property_value: closeMatch http://identifiers.org/snomedct/156182009
property_value: closeMatch http://identifiers.org/snomedct/199580004
property_value: closeMatch http://identifiers.org/snomedct/199581000
property_value: closeMatch http://identifiers.org/snomedct/199584008
property_value: exactMatch DOID:4175
property_value: exactMatch http://identifiers.org/snomedct/44795003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035404
property_value: exactMatch NCIT:C113150

[Term]
id: MONDO:0006954
name: obsolete rheumatic fever
is_obsolete: true
replaced_by: MONDO:0017767

[Term]
id: MONDO:0006955
name: rheumatic heart disease
def: "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." [NCIT:C34882]
synonym: "disease, rheumatic heart" EXACT [NCIT:C34882]
synonym: "heart disease, rheumatic" EXACT [NCIT:C34882]
synonym: "RHD" EXACT [NCIT:C34882]
synonym: "rheumatic carditis" EXACT [DOID:0050827]
xref: COHD:319825 {source="MONDO:equivalentTo"}
xref: DOID:0050827 {source="MONDO:equivalentTo"}
xref: EFO:1001161 {source="MONDO:equivalentTo"}
xref: ICD10:I05.I09 {source="MONDO:equivalentTo"}
xref: ICD9:398.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:398.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062110 {source="EFO:1001161"}
xref: MESH:D012214 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001161"}
xref: NCIT:C34882 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001161"}
xref: SCTID:23685000 {source="MONDO:equivalentTo", source="EFO:1001161", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005267 ! heart disease
is_a: MONDO:0021166 ! inflammatory disease
relationship: excluded_subClassOf MONDO:0002869 {source="DOID:0050827"} ! heart valve disease
property_value: closeMatch DOID:9814
property_value: closeMatch http://identifiers.org/meddra/10062110
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035439
property_value: exactMatch DOID:0050827
property_value: exactMatch http://identifiers.org/mesh/D012214
property_value: exactMatch http://identifiers.org/snomedct/23685000
property_value: exactMatch NCIT:C34882

[Term]
id: MONDO:0006956
name: Rickettsiosis
def: "A group of infectious diseases that is caused by Rickettsia." [NCIT:C34991]
comment: We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus
subset: ordo_group_of_disorders {source="Orphanet:102021"}
synonym: "infection, Rickettsia" EXACT [MESH:D012282]
synonym: "infections, Rickettsia" EXACT [MESH:D012282]
synonym: "Rickettsia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsia disease or disorder" EXACT []
synonym: "Rickettsia infection" EXACT [MESH:D012282]
synonym: "Rickettsia infectious disease" EXACT []
synonym: "Rickettsiae disease" EXACT [Orphanet:102021]
synonym: "Rickettsial disease" EXACT [MONDO:0015154]
synonym: "Rickettsial infectious disease" EXACT [NCIT:C34991]
synonym: "Rickettsial infectious disorder" EXACT [NCIT:C34991]
synonym: "Rickettsiosis" EXACT [NCIT:C34991]
xref: EFO:1001162 {source="MONDO:equivalentTo"}
xref: ICD9:083.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10061495 {source="EFO:1001162"}
xref: MESH:D012282 {source="EFO:1001162", source="MONDO:equivalentTo"}
xref: NCIT:C34991 {source="EFO:1001162", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:102021 {source="MONDO:equivalentTo"}
xref: SCTID:37246009 {source="MONDO:kboom-pr-1.00/0.79/7.66", source="MONDO:equivalentTo"}
xref: UMLS:C0035585 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34991", source="Orphanet:102021"}
is_a: MONDO:0005113 {source="EFO:1001162", source="MESH:D012282/inferred", source="MONDO:Redundant", source="NCIT:C34991", source="Orphanet:102021", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch DOID:1709
property_value: closeMatch http://identifiers.org/meddra/10061495
property_value: closeMatch http://identifiers.org/snomedct/416829003
property_value: exactMatch http://identifiers.org/mesh/D012282
property_value: exactMatch http://identifiers.org/snomedct/37246009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035585
property_value: exactMatch NCIT:C34991
property_value: exactMatch Orphanet:102021

[Term]
id: MONDO:0006957
name: root caries
def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213]
synonym: "cementum caries" EXACT [DOID:14089]
synonym: "cementum dental caries" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental caries of cementum" EXACT [MONDO:design_pattern]
synonym: "dental caries of root surface" EXACT [DOID:14089, ICD9CM_2006:521.08]
synonym: "root caries" EXACT [DOID:14089]
xref: DOID:14089 {source="EFO:1001163", source="MONDO:equivalentTo"}
xref: EFO:1001163 {source="MONDO:equivalentTo"}
xref: ICD9:521.08 {source="MONDO:equivalentTo", source="DOID:14089", source="i2s"}
xref: MESH:D017213 {source="EFO:1001163", source="MONDO:equivalentTo", source="DOID:14089", source="MONDO:ontobio"}
xref: SCTID:30512007 {source="MONDO:equivalentTo", source="DOID:14089", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0162644 {source="MONDO:equivalentTo", source="DOID:14089"}
is_a: MONDO:0002233 {source="linkedlifedata"} ! enamel caries
property_value: closeMatch http://identifiers.org/snomedct/234975001
property_value: exactMatch DOID:14089
property_value: exactMatch http://identifiers.org/mesh/D017213
property_value: exactMatch http://identifiers.org/snomedct/30512007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162644

[Term]
id: MONDO:0006958
name: obsolete SAPHO syndrome
is_obsolete: true
replaced_by: MONDO:0019266

[Term]
id: MONDO:0006959
name: obsolete Schnitzler syndrome
is_obsolete: true
replaced_by: MONDO:0018304

[Term]
id: MONDO:0006960
name: sciatic neuropathy
def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426]
xref: DOID:11446 {source="EFO:1001166", source="MONDO:equivalentTo"}
xref: EFO:1001166 {source="MONDO:equivalentTo"}
xref: MedDRA:10048950 {source="EFO:1001166"}
xref: MESH:D020426 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"}
xref: SCTID:52585001 {source="DOID:11446", source="MONDO:kboom-pr-0.96/0.92/0.12", source="EFO:1001166", source="MONDO:equivalentTo"}
xref: UMLS:C0149940 {source="DOID:11446", source="MONDO:equivalentTo"}
is_a: MONDO:0001397 {source="DOID:11446/inferred", source="MESH:D020426"} ! mononeuropathy
relationship: excluded_subClassOf MONDO:0001543 {source="DOID:11446"} ! lesion of sciatic nerve
property_value: closeMatch http://identifiers.org/meddra/10048950
property_value: exactMatch DOID:11446
property_value: exactMatch http://identifiers.org/mesh/D020426
property_value: exactMatch http://identifiers.org/snomedct/52585001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149940

[Term]
id: MONDO:0006961
name: scrapie
def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions." [MESH:D012608]
xref: DOID:5434 {source="MONDO:equivalentTo", source="EFO:1001168"}
xref: EFO:1001168 {source="MONDO:equivalentTo"}
xref: MESH:D012608 {source="DOID:5434", source="MONDO:equivalentTo", source="EFO:1001168", source="MONDO:ontobio"}
xref: UMLS:C0036457 {source="DOID:5434", source="MONDO:equivalentTo"}
is_a: MONDO:0005429 {source="DOID:5434", source="EFO:1001168", source="MESH:D012608"} ! prion disease
property_value: closeMatch http://identifiers.org/snomedct/35103004
property_value: exactMatch DOID:5434
property_value: exactMatch http://identifiers.org/mesh/D012608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036457

[Term]
id: MONDO:0006962
name: sebaceous adenocarcinoma
def: "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310]
synonym: "adenocarcinoma of the sebaceous gland" EXACT [DOID:4839, NCIT:C3767]
synonym: "adenocarcinoma, sebaceous, malignant" EXACT [NCIT:C40310]
synonym: "carcinoma of sebaceous gland" EXACT [NCIT:C40310]
synonym: "carcinoma of the sebaceous gland" EXACT [NCIT:C40310]
synonym: "malignant neoplasm of sebaceous gland" EXACT EXCLUDE [DOID:4840]
synonym: "malignant sebaceous tumor" EXACT [DOID:4840, NCIT:C8409]
synonym: "Seba" RELATED [ONCOTREE:SEBA]
synonym: "sebaceous cancer" EXACT [NCIT:C40310]
synonym: "sebaceous carcinoma" EXACT [DOID:4839, MONDO:0003160, NCIT:C40310]
synonym: "sebaceous gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland carcinoma" EXACT [NCIT:C40310]
xref: DOID:4839 {source="MONDO:equivalentTo", source="EFO:1001171"}
xref: DOID:4840 {source="MONDO:equivalentTo"}
xref: EFO:1001171 {source="MONDO:equivalentTo"}
xref: ICD10:C44 {source="DOID:4840"}
xref: ICDO:8410/3 {source="NCIT:C40310"}
xref: MESH:D018266 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4839", source="EFO:1001171"}
xref: NCIT:C40310 {source="MONDO:equivalentTo", source="DOID:4839", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: ONCOTREE:SEBA {source="MONDO:equivalentTo"}
xref: SCTID:307599002 {source="MONDO:equivalentTo", source="DOID:4839", source="MONDO:kboom-pr-0.97/0.92/0.71"}
xref: UMLS:C0206684 {source="MONDO:equivalentTo", source="DOID:4839", source="NCIT:C40310"}
is_a: MONDO:0004970 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Redundant", source="MONDOLEX:0006962", source="NCIT:C40310", source="linkedlifedata/inferred"} ! adenocarcinoma
is_a: MONDO:0006973 {source="MONDO:Redundant", source="NCIT:C40310"} ! skin appendage carcinoma
is_a: MONDO:0037735 ! sebaceous gland cancer
property_value: closeMatch http://identifiers.org/snomedct/188083002
property_value: closeMatch http://identifiers.org/snomedct/255094009
property_value: closeMatch http://identifiers.org/snomedct/54734006
property_value: exactMatch DOID:4839
property_value: exactMatch DOID:4840
property_value: exactMatch http://identifiers.org/mesh/D018266
property_value: exactMatch http://identifiers.org/snomedct/307599002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206684
property_value: exactMatch NCIT:C40310

[Term]
id: MONDO:0006963
name: sebaceous gland neoplasm
def: "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." [NCIT:C3363]
synonym: "neoplasm of sebaceous gland" EXACT [MONDO:patterns/neoplasm]
synonym: "sebaceous gland neoplasm" EXACT [NCIT:C3363]
synonym: "sebaceous gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3363]
synonym: "sebaceous neoplasm" EXACT [DOID:5759, NCIT:C3363]
synonym: "sebaceous tumor" EXACT [NCIT:C3363]
synonym: "tumor of sebaceous gland" EXACT [MONDO:patterns/neoplasm]
xref: DOID:5759 {source="MONDO:equivalentTo", source="EFO:1001172"}
xref: EFO:1001172 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012626 {source="MONDO:equivalentTo", source="DOID:5759", source="MONDO:ontobio", source="EFO:1001172"}
xref: NCIT:C3363 {source="MONDO:equivalentTo", source="DOID:5759", source="exact-label-match", source="EFO:1001172"}
xref: SCTID:126491004 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo", source="DOID:5759"}
xref: UMLS:C0036503 {source="NCIT:C3363", source="MONDO:equivalentTo", source="DOID:5759"}
xref: UMLS:C3805742 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3363", source="linkedlifedata"} ! epidermal appendage tumor
is_a: MONDO:0006607 {source="MESH:D012626", source="MONDO:Redundant", source="OWLReasoner:2017"} ! sebaceous gland disease
property_value: exactMatch DOID:5759
property_value: exactMatch http://identifiers.org/mesh/D012626
property_value: exactMatch http://identifiers.org/snomedct/126491004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036503
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805742
property_value: exactMatch NCIT:C3363

[Term]
id: MONDO:0006964
name: secondary hyperparathyroidism (disease)
def: "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." [NCIT:P378]
synonym: "secondary hyperparathyroidism" EXACT [MONDO:ambiguous]
synonym: "secondary hyperparathyroidism NOS" NARROW [DOID:12466, MTHICD9_2006:588.81]
xref: COHD:138388 {source="MONDO:equivalentTo"}
xref: DOID:12466 {source="EFO:1001173", source="MONDO:equivalentTo"}
xref: EFO:1001173 {source="MONDO:equivalentTo"}
xref: HP:0000867 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10020708 {source="EFO:1001173"}
xref: MESH:D006962 {source="EFO:1001173", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12466"}
xref: NCIT:C113335 {source="EFO:1001173", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12466"}
xref: SCTID:91478007 {source="EFO:1001173", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12466"}
xref: UMLS:C0020503 {source="MONDO:equivalentTo", source="NCIT:C113335", source="DOID:12466"}
is_a: MONDO:0001741 {source="DOID:12466", source="MESH:D006962", source="NCIT:C113335", source="linkedlifedata"} ! hyperparathyroidism
union_of: MONDO:0001530 ! secondary hyperparathyroidism of renal origin
union_of: MONDO:0001750 ! non-renal secondary hyperparathyroidism
property_value: closeMatch http://identifiers.org/meddra/10020708
property_value: exactMatch DOID:12466
property_value: exactMatch http://identifiers.org/mesh/D006962
property_value: exactMatch http://identifiers.org/snomedct/91478007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020503
property_value: exactMatch NCIT:C113335

[Term]
id: MONDO:0006965
name: secondary hypertrophic osteoarthropathy
def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005]
synonym: "Bamberger-Marie disease" EXACT [DOID:10393, MTHICD9_2006:731.2]
synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393]
synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393, ICD9CM_2006:731.2]
synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" EXACT [DOID:10393]
synonym: "Marie Bamberger disease" EXACT [CSP2005:2715-1220, DOID:10393]
xref: DOID:10393 {source="EFO:1001174", source="MONDO:equivalentTo"}
xref: EFO:1001174 {source="MONDO:equivalentTo"}
xref: ICD10:M89.4 {source="DOID:10393"}
xref: ICD9:731.2 {source="MONDO:equivalentTo", source="DOID:10393", source="i2s"}
xref: MESH:D010005 {source="EFO:1001174", source="MONDO:equivalentTo", source="DOID:10393", source="MONDO:ontobio"}
xref: SCTID:203357004 {source="MONDO:kboom-pr-1.00/0.78/7.33", source="MONDO:equivalentTo", source="DOID:10393"}
xref: UMLS:C0029412 {source="MONDO:equivalentTo", source="DOID:10393"}
is_a: MONDO:0006816 {source="DOID:10393", source="MESH:D010005"} ! arthropathy
property_value: closeMatch http://identifiers.org/snomedct/222712005
property_value: closeMatch http://identifiers.org/snomedct/46922002
property_value: exactMatch DOID:10393
property_value: exactMatch http://identifiers.org/mesh/D010005
property_value: exactMatch http://identifiers.org/snomedct/203357004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029412

[Term]
id: MONDO:0006966
name: secondary Parkinson disease
def: "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." [NCIT:P378]
synonym: "disorder presenting primarily with parkinsonism" EXACT [DOID:13548]
synonym: "secondary Parkinsonism" EXACT [DOID:13548, ICD9CM_2006:332.1, NCIT:C34899]
synonym: "secondary parkinsonism (disorder) [ambiguous]" EXACT [DOID:13548]
synonym: "secondary parkinsonism, unspecified" EXACT [DOID:13548]
synonym: "symptomatic parkinsonism" EXACT [DOID:13548]
xref: COHD:374013 {source="MONDO:equivalentTo"}
xref: DOID:13548 {source="EFO:1001175", source="MONDO:equivalentTo"}
xref: EFO:1001175 {source="MONDO:equivalentTo"}
xref: ICD10:G21 {source="DOID:13548"}
xref: ICD10:G21.9 {source="DOID:13548"}
xref: ICD9:332.1 {source="DOID:13548"}
xref: MESH:D010302 {source="DOID:13548", source="EFO:1001175", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34899 {source="DOID:13548", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:265377002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:13548", source="MONDO:equivalentTo"}
xref: UMLS:C0030569 {source="DOID:13548", source="MONDO:equivalentTo", source="NCIT:C34899"}
is_a: MONDO:0005559 {source="DOID:13548", source="EFO:1001175", source="EFO:1001175/inferred"} ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/192830002
property_value: closeMatch http://identifiers.org/snomedct/194477000
property_value: closeMatch http://identifiers.org/snomedct/230292008
property_value: closeMatch http://identifiers.org/snomedct/32798002
property_value: closeMatch http://identifiers.org/snomedct/50364008
property_value: exactMatch DOID:13548
property_value: exactMatch http://identifiers.org/mesh/D010302
property_value: exactMatch http://identifiers.org/snomedct/265377002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030569
property_value: exactMatch NCIT:C34899

[Term]
id: MONDO:0006967
name: obsolete septic abortion
xref: EFO:1001177 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10040056 {source="EFO:1001177"}
xref: MESH:D000031 {source="MONDO:obsoleteEquivalent", source="EFO:1001177", source="MONDO:ontobio"}
property_value: closeMatch DOID:2910
property_value: closeMatch http://identifiers.org/meddra/10040056
property_value: exactMatch http://identifiers.org/mesh/D000031
is_obsolete: true

[Term]
id: MONDO:0006968
name: shoulder impingement syndrome
def: "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" [MESH:D019534]
synonym: "Impingement syndrome of shoulder region" EXACT [DOID:14276]
synonym: "shoulder impingement syndrome (disorder) [ambiguous]" EXACT [DOID:14276]
synonym: "subacromial impingement" EXACT [DOID:14276]
xref: DOID:14276 {source="EFO:1001178", source="MONDO:equivalentTo"}
xref: EFO:1001178 {source="MONDO:equivalentTo"}
xref: ICD10:M75.4 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276"}
xref: ICD9:726.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049039 {source="EFO:1001178"}
xref: MESH:D019534 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276", source="MONDO:ontobio"}
xref: SCTID:202849001 {source="MONDO:equivalentTo", source="DOID:14276", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0376685 {source="MONDO:equivalentTo", source="DOID:14276"}
is_a: MONDO:0006816 {source="DOID:14276", source="EFO:1001178", source="MESH:D019534", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy
property_value: closeMatch http://identifiers.org/meddra/10049039
property_value: closeMatch http://identifiers.org/snomedct/128498000
property_value: closeMatch http://identifiers.org/snomedct/202851002
property_value: closeMatch http://identifiers.org/snomedct/239960007
property_value: closeMatch http://identifiers.org/snomedct/366831005
property_value: exactMatch DOID:14276
property_value: exactMatch http://identifiers.org/mesh/D019534
property_value: exactMatch http://identifiers.org/snomedct/202849001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376685

[Term]
id: MONDO:0006969
name: sialadenitis
def: "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis]
comment: Editor note: TODO check NCIT mapping
subset: gard_rare {source="GARD:0007638"}
synonym: "adenitis, salivary gland" RELATED [GARD:0007638]
synonym: "lymphadenitis (disease) of saliva-secreting gland" EXACT []
synonym: "saliva-secreting gland lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "salivary gland inflammation" RELATED [GARD:0007638]
synonym: "sialitis" EXACT [NCIT:C115165]
synonym: "sialoadenitis" EXACT [DOID:10303]
xref: COHD:29056 {source="MONDO:equivalentTo"}
xref: DOID:10303 {source="MONDO:equivalentTo", source="EFO:1001179"}
xref: EFO:1001179 {source="MONDO:equivalentTo"}
xref: GARD:0007638 {source="MONDO:equivalentTo"}
xref: ICD10:K11.2 {source="DOID:10303"}
xref: ICD10:K11.20 {source="DOID:10303"}
xref: ICD9:527.2 {source="DOID:10303", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10040627 {source="EFO:1001179"}
xref: MESH:D012793 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179", source="MONDO:ontobio"}
xref: NCIT:C115165 {source="DOID:10303", source="MONDO:equivalentTo"}
xref: SCTID:42982001 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179", source="MONDO:kboom-pr-1.00/0.85/15.28"}
xref: UMLS:C0037023 {source="DOID:10303", source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="DOID:10303", source="EFO:1001179", source="MESH:D012793", source="MONDO:Redundant", source="NCIT:C115165/inferred", source="linkedlifedata"} ! salivary gland disease
is_a: MONDO:0002052 {source="DOID:10303", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphadenitis (disease)
property_value: closeMatch http://identifiers.org/meddra/10040627
property_value: closeMatch http://identifiers.org/snomedct/155655005
property_value: closeMatch http://identifiers.org/snomedct/196481002
property_value: closeMatch http://identifiers.org/snomedct/196490009
property_value: closeMatch http://identifiers.org/snomedct/266494007
property_value: closeMatch NCIT:C26882
property_value: exactMatch DOID:10303
property_value: exactMatch http://identifiers.org/mesh/D012793
property_value: exactMatch http://identifiers.org/snomedct/42982001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037023
property_value: exactMatch NCIT:C115165
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7638/sialadenitis xsd:anyURI {source="GARD:0007638"}

[Term]
id: MONDO:0006970
name: sialolithiasis
def: "A concretion in the salivary gland." [NCIT:P378]
synonym: "salivary gland Stone" EXACT [DOID:12905, NCIT:C34994]
synonym: "sialolith" EXACT [DOID:12905]
synonym: "Stone of salivary gland or duct" EXACT [DOID:12905, MTHICD9_2006:527.5]
xref: COHD:30441 {source="MONDO:equivalentTo"}
xref: DOID:12905 {source="MONDO:equivalentTo", source="EFO:1001180"}
xref: EFO:1001180 {source="MONDO:equivalentTo"}
xref: ICD10:K11.5 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"}
xref: ICD9:527.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:12905"}
xref: MedDRA:10040631 {source="EFO:1001180"}
xref: MESH:D015494 {source="MONDO:equivalentTo", source="DOID:12905", source="MONDO:ontobio", source="EFO:1001180"}
xref: SCTID:28826002 {source="MONDO:equivalentTo", source="DOID:12905", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1001180"}
xref: UMLS:C0036091 {source="MONDO:equivalentTo", source="DOID:12905"}
is_a: MONDO:0001142 {source="DOID:12905", source="EFO:1001180", source="MESH:D015494/inferred", source="linkedlifedata"} ! salivary gland disease
property_value: closeMatch http://identifiers.org/meddra/10040631
property_value: closeMatch http://identifiers.org/snomedct/109767003
property_value: closeMatch http://identifiers.org/snomedct/155656006
property_value: closeMatch http://identifiers.org/snomedct/196507003
property_value: exactMatch DOID:12905
property_value: exactMatch http://identifiers.org/mesh/D015494
property_value: exactMatch http://identifiers.org/snomedct/28826002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036091
property_value: exactMatch NCIT:C34994

[Term]
id: MONDO:0006971
name: sigmoid neoplasm
def: "Tumors or cancer of the sigmoid colon." [MESH:D012811]
comment: Editor note: NCIT uses rectosigmoid as a region
synonym: "neoplasm of sigmoid colon" EXACT [MONDO:patterns/neoplasm]
synonym: "sigmoid colon neoplasm" EXACT []
synonym: "sigmoid colon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sigmoid colon tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of sigmoid colon" EXACT [MONDO:patterns/neoplasm]
xref: DOID:1896 {source="MONDO:equivalentTo", source="EFO:1001181"}
xref: EFO:1001181 {source="MONDO:equivalentTo"}
xref: ICD9:153.3 {source="MONDO:superClassOf", source="EFO:1001181"}
xref: MedDRA:10026456 {source="EFO:1001181"}
xref: MESH:D012811 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181"}
xref: SCTID:126845000 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037073 {source="DOID:1896", source="MONDO:equivalentTo"}
is_a: MONDO:0005401 {source="EFO:1001181", source="MESH:D012811", source="MONDO:Entailed", source="MONDO:Redundant"} ! colonic neoplasm
property_value: closeMatch http://identifiers.org/meddra/10026456
property_value: closeMatch http://identifiers.org/snomedct/254581007
property_value: exactMatch DOID:1896
property_value: exactMatch http://identifiers.org/mesh/D012811
property_value: exactMatch http://identifiers.org/snomedct/126845000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037073

[Term]
id: MONDO:0006972
name: silo filler disease
def: "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." [MESH:D012832]
synonym: "silo filler disease" EXACT [DOID:4374]
synonym: "silo filler's disease" RELATED [DOID:4374]
synonym: "silo-fillers' disease" EXACT [DOID:4374, MTHICD9_2006:506.9]
xref: DOID:4374 {source="MONDO:equivalentTo", source="EFO:1001182"}
xref: EFO:1001182 {source="MONDO:equivalentTo"}
xref: MESH:D012832 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4374", source="EFO:1001182"}
xref: SCTID:61233003 {source="MONDO:equivalentTo", source="DOID:4374", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037120 {source="MONDO:equivalentTo", source="DOID:4374"}
is_a: MONDO:0005275 {source="DOID:4374", source="EFO:1001182", source="MESH:D012832/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: exactMatch DOID:4374
property_value: exactMatch http://identifiers.org/mesh/D012832
property_value: exactMatch http://identifiers.org/snomedct/61233003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037120

[Term]
id: MONDO:0006973
name: skin appendage carcinoma
def: "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." [NCIT:P378]
synonym: "adnexal carcinoma" EXACT [NCIT:C3775]
synonym: "carcinoma of adnexa" EXACT [NCIT:C3775]
synonym: "carcinoma of cutaneous appendage" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of skin appendage" EXACT [NCIT:C3775]
synonym: "carcinoma, adnexal, malignant" EXACT [NCIT:C3775]
synonym: "cutaneous appendage carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin adnexal carcinoma" RELATED [ONCOTREE:SKAC]
synonym: "skin appendage carcinoma" EXACT [NCIT:C3775]
xref: EFO:1001183 {source="MONDO:equivalentTo"}
xref: ICDO:8390/3 {source="NCIT:C3775"}
xref: MedDRA:10040798 {source="EFO:1001183"}
xref: MESH:D018280 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001183"}
xref: NCIT:C3775 {source="MONDO:equivalentTo", source="EFO:1001183", source="MONDO:kboom-pr-1.00/0.91/24.62"}
xref: ONCOTREE:SKAC {source="MONDO:equivalentTo"}
xref: UMLS:C0206697 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3775"}
is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3775/inferred"} ! epidermal appendage tumor
is_a: MONDO:0002656 {source="MONDO:Redundant", source="MONDOLEX:0006973", source="NCIT:C3775"} ! skin carcinoma
property_value: closeMatch DOID:4684
property_value: closeMatch http://identifiers.org/meddra/10040798
property_value: closeMatch http://identifiers.org/snomedct/64000002
property_value: exactMatch http://identifiers.org/mesh/D018280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206697
property_value: exactMatch NCIT:C3775

[Term]
id: MONDO:0006974
name: small cell sarcoma
def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." [NCIT:C3746]
synonym: "small cell sarcoma" EXACT [NCIT:C3746]
synonym: "small cell sarcomas" EXACT [NCIT:C3746]
xref: DOID:3098 {source="EFO:1001184", source="MONDO:equivalentTo"}
xref: EFO:1001184 {source="MONDO:equivalentTo"}
xref: ICDO:8803/3 {source="NCIT:C3746"}
xref: MESH:D018228 {source="EFO:1001184", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3098"}
xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:3098"}
xref: UMLS:C0206652 {source="MONDO:equivalentTo", source="DOID:3098", source="NCIT:C3746"}
is_a: MONDO:0005089 {source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:3098"} ! connective tissue cancer
property_value: closeMatch http://identifiers.org/snomedct/73506006
property_value: exactMatch DOID:3098
property_value: exactMatch http://identifiers.org/mesh/D018228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206652
property_value: exactMatch NCIT:C3746

[Term]
id: MONDO:0006975
name: smooth muscle tumor
def: "A benign or malignant myomatous neoplasm arising from smooth muscle." [NCIT:C3751]
synonym: "neoplasm of smooth muscle" EXACT [NCIT:C3751]
synonym: "neoplasm of the smooth muscle" EXACT [NCIT:C3751]
synonym: "smooth muscle neoplasm" EXACT [NCIT:C3751]
synonym: "smooth muscle tumor" EXACT [NCIT:C3751]
synonym: "tumor of smooth muscle" EXACT [NCIT:C3751]
synonym: "tumor of the smooth muscle" EXACT [NCIT:C3751]
xref: DOID:4310 {source="EFO:1001185", source="MONDO:equivalentTo"}
xref: EFO:1001185 {source="MONDO:equivalentTo"}
xref: MESH:D018235 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3751 {source="DOID:4310", source="DesignPattern", source="EFO:1001185", source="MONDO:equivalentTo"}
xref: UMLS:C0206658 {source="DOID:4310", source="MONDO:equivalentTo", source="NCIT:C3751"}
is_a: MONDO:0021545 {source="MESH:D018235", source="MONDO:Redundant", source="NCIT:C3751"} ! myomatous neoplasm
property_value: closeMatch http://identifiers.org/snomedct/189799007
property_value: closeMatch http://identifiers.org/snomedct/75109009
property_value: exactMatch DOID:4310
property_value: exactMatch http://identifiers.org/mesh/D018235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206658
property_value: exactMatch NCIT:C3751

[Term]
id: MONDO:0006976
name: somatostatinoma
def: "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." [NCIT:P378]
subset: gard_rare {source="GARD:0004900"}
subset: ordo_disease {source="Orphanet:97283"}
synonym: "ampullary somatostatinoma" RELATED [GARD:0004900]
synonym: "carcinoid somatostatinoma" RELATED [GARD:0004900]
synonym: "Delta cell tumor" EXACT [NCIT:C3379]
synonym: "malignant islet cell tumor" RELATED [GARD:0004900]
synonym: "Somatomedin-secreting carcinoid" RELATED [GARD:0004900]
synonym: "somatostatin cell neoplasm" EXACT [DOID:4430, NCIT:C3379]
synonym: "somatostatin cell tumor" EXACT [NCIT:C3379]
synonym: "somatostatin cell tumour" EXACT [DOID:4430]
synonym: "somatostatin producing tumor" EXACT [NCIT:C3379]
synonym: "somatostatin-producing NET" EXACT [NCIT:C3379]
synonym: "somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C3379]
synonym: "somatostatin-producing tumor" EXACT [NCIT:C3379]
synonym: "somatostatin-secreting pancreatic neoplasm" RELATED [GARD:0004900]
synonym: "somatostatinoma" EXACT [NCIT:C3379]
synonym: "tumor of Delta cells" EXACT [NCIT:C3379]
synonym: "tumor of the Delta cells" EXACT [NCIT:C3379]
xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"}
xref: EFO:1001187 {source="MONDO:equivalentTo"}
xref: GARD:0004900 {source="MONDO:equivalentTo"}
xref: ICD10:E16.8 {source="ORDO:97283/ntbt", source="Orphanet:97283"}
xref: ICD9:235.5 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8156/1 {source="NCIT:C3379"}
xref: MedDRA:10041329 {source="EFO:1001187", source="ORDO:97283/e", source="Orphanet:97283"}
xref: MESH:D013005 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283", source="MONDO:ontobio"}
xref: NCIT:C3379 {source="MONDO:kboom-pr-1.00/0.84/14.94", source="DOID:4430", source="MONDO:equivalentTo"}
xref: Orphanet:97283 {source="MONDO:equivalentTo"}
xref: SCTID:253006001 {source="DOID:4430", source="EFO:1001187", source="MONDO:kboom-pr-0.91/0.76/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0037661 {source="DOID:4430", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283", source="NCIT:C3379"}
is_a: MONDO:0005369 {source="EFO:1001187", source="MONDO:Redundant", source="indirect"} ! carcinoid tumor (disease)
is_a: MONDO:0019954 {source="MONDO:Redundant", source="Orphanet:97283", source="Orphanet:97283/inferred"} ! pancreatic neuroendocrine tumor
property_value: closeMatch http://identifiers.org/snomedct/128642005
property_value: exactMatch DOID:4430
property_value: exactMatch http://identifiers.org/meddra/10041329
property_value: exactMatch http://identifiers.org/mesh/D013005
property_value: exactMatch http://identifiers.org/snomedct/253006001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037661
property_value: exactMatch NCIT:C3379
property_value: exactMatch Orphanet:97283
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma xsd:anyURI {source="GARD:0004900"}

[Term]
id: MONDO:0006977
name: spermatocele
def: "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris." [NCIT:P378]
xref: COHD:197601 {source="MONDO:equivalentTo"}
xref: DOID:11997 {source="EFO:1001189", source="MONDO:equivalentTo"}
xref: EFO:1001189 {source="MONDO:equivalentTo"}
xref: ICD10:N43.4 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"}
xref: ICD10:N43.40 {source="DOID:11997"}
xref: ICD10:N50.3 {source="DOID:11997"}
xref: ICD9:608.1 {source="DOID:11997", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10041490 {source="EFO:1001189"}
xref: MESH:D013088 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:49263001 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0037859 {source="DOID:11997", source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="DOID:11997", source="ICD10:N43.4/inferred", source="MESH:D013088", source="linkedlifedata/inferred"} ! male reproductive system disease
property_value: closeMatch http://identifiers.org/meddra/10041490
property_value: closeMatch http://identifiers.org/snomedct/155936007
property_value: closeMatch http://identifiers.org/snomedct/155941004
property_value: closeMatch http://identifiers.org/snomedct/43077002
property_value: exactMatch DOID:11997
property_value: exactMatch http://identifiers.org/mesh/D013088
property_value: exactMatch http://identifiers.org/snomedct/49263001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037859
property_value: exactMatch NCIT:C120909
property_value: exactMatch NCIT:C3865

[Term]
id: MONDO:0006978
name: splenic infarction
def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" [MESH:D013159]
synonym: "infarct of the spleen" RELATED [GARD:0009973]
synonym: "splenic infarct" EXACT [DOID:2533]
synonym: "splenic infarction" EXACT [DOID:2533, MTHICD9_2006:289.59]
synonym: "splenic infarcts" RELATED [GARD:0009973]
xref: COHD:4044745 {source="MONDO:equivalentTo"}
xref: DOID:2533 {source="MONDO:equivalentTo", source="EFO:1001190"}
xref: EFO:1001190 {source="MONDO:equivalentTo"}
xref: GARD:0009973 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:D73.5 {source="MONDO:equivalentTo", source="DOID:2533"}
xref: ICD9:289.59 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10041648 {source="EFO:1001190"}
xref: MESH:D013159 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190", source="MONDO:ontobio"}
xref: SCTID:22996003 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037998 {source="MONDO:equivalentTo", source="DOID:2533"}
is_a: MONDO:0002332 {source="DOID:2533", source="ICD10:D73.5", source="MESH:D013159", source="linkedlifedata", source="linkedlifedata/inferred"} ! splenic disease
is_a: MONDO:0020674 ! vascular insufficiency disorder
property_value: closeMatch http://identifiers.org/meddra/10041648
property_value: closeMatch http://identifiers.org/snomedct/154839008
property_value: closeMatch http://identifiers.org/snomedct/267570002
property_value: exactMatch DOID:2533
property_value: exactMatch http://identifiers.org/mesh/D013159
property_value: exactMatch http://identifiers.org/snomedct/22996003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037998

[Term]
id: MONDO:0006979
name: steatitis
def: "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" [MESH:D013231]
xref: DOID:4025 {source="MONDO:equivalentTo", source="EFO:1001191"}
xref: EFO:1001191 {source="MONDO:equivalentTo"}
xref: MESH:D013231 {source="DOID:4025", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001191"}
xref: SCTID:33882007 {source="MONDO:equivalentTo", source="EFO:1001191"}
xref: UMLS:C0038235 {source="DOID:4025", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:1001191", source="MESH:D013231"} ! non-human animal disease
is_a: MONDO:0006873 {source="DOID:4025", source="MESH:D013231/inferred"} ! nutritional deficiency disease
property_value: exactMatch DOID:4025
property_value: exactMatch http://identifiers.org/mesh/D013231
property_value: exactMatch http://identifiers.org/snomedct/33882007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038235

[Term]
id: MONDO:0006980
name: struma ovarii
def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." [NCIT:C7468]
synonym: "struma ovarii" EXACT [NCIT:C7468]
synonym: "struma ovarii (morphologic abnormality)" EXACT [DOID:2640]
synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [DOID:2640]
xref: DOID:2640 {source="MONDO:equivalentTo", source="EFO:1001192"}
xref: EFO:1001192 {source="MONDO:equivalentTo"}
xref: ICDO:9090/0 {source="NCIT:C7468"}
xref: MESH:D013330 {source="DOID:2640", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001192"}
xref: NCIT:C7468 {source="DOID:2640", source="MONDO:equivalentTo"}
xref: UMLS:C0038478 {source="DOID:2640", source="MONDO:equivalentTo", source="NCIT:C7468"}
is_a: MONDO:0002372 {source="DOID:2640", source="NCIT:C7468"} ! ovarian monodermal and highly specialized teratoma
property_value: closeMatch http://identifiers.org/snomedct/189851000
property_value: closeMatch http://identifiers.org/snomedct/24327009
property_value: exactMatch DOID:2640
property_value: exactMatch http://identifiers.org/mesh/D013330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038478
property_value: exactMatch NCIT:C7468

[Term]
id: MONDO:0006981
name: subacute bacterial endocarditis
def: "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." [NCIT:P378]
synonym: "endocarditis lenta" EXACT [DOID:4562]
synonym: "SBE" EXACT [NCIT:C34583]
synonym: "SBE - Subacute bacterial endocarditis" EXACT [DOID:4562]
synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562]
synonym: "Subacute endocarditis, lenta" EXACT [DOID:4562, MTHICD9_2006:421.0]
xref: DOID:4562 {source="MONDO:equivalentTo", source="EFO:1001193"}
xref: EFO:1001193 {source="MONDO:equivalentTo"}
xref: MedDRA:10042271 {source="EFO:1001193"}
xref: MESH:D004698 {source="DOID:4562", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001193"}
xref: NCIT:C34583 {source="DOID:4562", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001193"}
xref: SCTID:73774007 {source="DOID:4562", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001193"}
xref: UMLS:C0014122 {source="DOID:4562", source="NCIT:C34583", source="MONDO:equivalentTo"}
is_a: MONDO:0000565 {source="DOID:4562", source="linkedlifedata", source="linkedlifedata/inferred"} ! infective endocarditis
property_value: closeMatch http://identifiers.org/meddra/10042271
property_value: closeMatch http://identifiers.org/snomedct/155334001
property_value: closeMatch http://identifiers.org/snomedct/194923008
property_value: closeMatch http://identifiers.org/snomedct/50194006
property_value: exactMatch DOID:4562
property_value: exactMatch http://identifiers.org/mesh/D004698
property_value: exactMatch http://identifiers.org/snomedct/73774007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014122
property_value: exactMatch NCIT:C34583

[Term]
id: MONDO:0006982
name: subacute thyroiditis
def: "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." [NCIT:P378]
synonym: "De Quervain thyroiditis" EXACT [NCIT:C35828]
synonym: "De Quervain's thyroiditis" EXACT [DOID:7165]
synonym: "de Quervain's thyroiditis" EXACT [DOID:7165]
synonym: "DeQuervain thyroiditis" EXACT [NCIT:C35828]
synonym: "giant-cell thyroiditis" EXACT [DOID:7165]
synonym: "granulomatous thyroiditis" EXACT [DOID:7165, MTHICD9_2006:245.1]
synonym: "Subacute granulomatous thyroiditis" EXACT [DOID:7165, NCIT:C35828]
synonym: "Subacute thyroiditis" EXACT [DOID:7165, NCIT:C35071]
xref: COHD:132579 {source="MONDO:equivalentTo"}
xref: DOID:7165 {source="MONDO:equivalentTo", source="EFO:1001194"}
xref: EFO:1001194 {source="MONDO:equivalentTo"}
xref: ICD10:E06.1 {source="MONDO:equivalentTo", source="DOID:7165"}
xref: ICD9:245.1 {source="DOID:7165"}
xref: MedDRA:10042298 {source="EFO:1001194"}
xref: MESH:D013968 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7165", source="EFO:1001194"}
xref: NCIT:C35828 {source="MONDO:kboom-pr-0.91/0.78/0.63", source="MONDO:equivalentTo", source="DOID:7165"}
xref: SCTID:428041004 {source="MONDO:equivalentTo", source="DOID:7165", source="MONDO:kboom-pr-0.89/0.76/0.10"}
xref: UMLS:C0040149 {source="MONDO:equivalentTo", source="DOID:7165"}
is_a: MONDO:0004126 {source="DOID:7165", source="MESH:D013968", source="NCIT:C35828/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroiditis (disease)
property_value: closeMatch http://identifiers.org/meddra/10042298
property_value: closeMatch http://identifiers.org/snomedct/154666006
property_value: closeMatch http://identifiers.org/snomedct/190296009
property_value: closeMatch http://identifiers.org/snomedct/237530000
property_value: closeMatch http://identifiers.org/snomedct/237531001
property_value: closeMatch http://identifiers.org/snomedct/237532008
property_value: closeMatch http://identifiers.org/snomedct/237533003
property_value: closeMatch http://identifiers.org/snomedct/38727009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342176
property_value: closeMatch NCIT:C35071
property_value: exactMatch DOID:7165
property_value: exactMatch http://identifiers.org/mesh/D013968
property_value: exactMatch http://identifiers.org/snomedct/428041004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040149
property_value: exactMatch NCIT:C35828

[Term]
id: MONDO:0006983
name: subclavian steal syndrome
def: "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." [NCIT:P378]
synonym: "subclavian artery stenosis" EXACT [DOID:13002]
synonym: "subclavian steal phenomenon" EXACT [DOID:13002]
synonym: "subclavian steal steno-occlusive disease" EXACT [DOID:13002]
xref: COHD:433505 {source="MONDO:equivalentTo"}
xref: DOID:13002 {source="EFO:1001195", source="MONDO:equivalentTo"}
xref: EFO:1001195 {source="MONDO:equivalentTo"}
xref: ICD9:435.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:13002"}
xref: MedDRA:10042335 {source="EFO:1001195"}
xref: MESH:D013349 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002", source="MONDO:ontobio"}
xref: NCIT:C35044 {source="EFO:1001195", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:13002"}
xref: SCTID:15258001 {source="EFO:1001195", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:13002"}
xref: UMLS:C0038531 {source="NCIT:C35044", source="MONDO:equivalentTo", source="DOID:13002"}
is_a: MONDO:0002254 {source="DOID:13002", source="MONDOLEX:0006983", source="NCIT:C35044"} ! syndromic disease
is_a: MONDO:0011057 {source="EFO:1001195", source="MESH:D013349/inferred"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/meddra/10042335
property_value: closeMatch http://identifiers.org/snomedct/300921000
property_value: exactMatch DOID:13002
property_value: exactMatch http://identifiers.org/mesh/D013349
property_value: exactMatch http://identifiers.org/snomedct/15258001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038531
property_value: exactMatch NCIT:C35044

[Term]
id: MONDO:0006984
name: subdural empyema
def: "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." [MESH:D013354]
synonym: "subdural abscess" EXACT [DOID:11389]
xref: DOID:11389 {source="EFO:1001196", source="MONDO:equivalentTo"}
xref: EFO:1001196 {source="MONDO:equivalentTo"}
xref: MedDRA:10042360 {source="EFO:1001196"}
xref: MESH:D013354 {source="EFO:1001196", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11389"}
xref: SCTID:37660004 {source="EFO:1001196", source="MONDO:equivalentTo", source="DOID:11389", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038539 {source="MONDO:equivalentTo", source="DOID:11389"}
is_a: MONDO:0005242 {source="MESH:D013354"} ! empyema
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: closeMatch http://identifiers.org/meddra/10042360
property_value: exactMatch DOID:11389
property_value: exactMatch http://identifiers.org/mesh/D013354
property_value: exactMatch http://identifiers.org/snomedct/37660004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038539

[Term]
id: MONDO:0006985
name: obsolete subependymoma
is_obsolete: true
replaced_by: MONDO:0007667

[Term]
id: MONDO:0006986
name: substernal goiter
def: "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045]
synonym: "retrosternal thyroid goiter" EXACT [DOID:13200]
xref: DOID:13200 {source="EFO:1001198", source="MONDO:equivalentTo"}
xref: EFO:1001198 {source="MONDO:equivalentTo"}
xref: MESH:D006045 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200", source="MONDO:ontobio"}
xref: SCTID:66392007 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018024 {source="MONDO:equivalentTo", source="DOID:13200"}
is_a: MONDO:0005397 {source="DOID:13200", source="EFO:1001198", source="MESH:D006045", source="linkedlifedata"} ! goiter (disease)
property_value: closeMatch http://identifiers.org/snomedct/190234009
property_value: exactMatch DOID:13200
property_value: exactMatch http://identifiers.org/mesh/D006045
property_value: exactMatch http://identifiers.org/snomedct/66392007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018024

[Term]
id: MONDO:0006987
name: subvalvular aortic stenosis
def: "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." [NCIT:P378]
subset: gard_rare {source="GARD:0005052"}
xref: DOID:5805 {source="EFO:1001199", source="MONDO:equivalentTo"}
xref: EFO:1001199 {source="MONDO:equivalentTo"}
xref: GARD:0005052 {source="MONDO:equivalentTo"}
xref: MedDRA:10042431 {source="EFO:1001199"}
xref: MESH:D001020 {source="EFO:1001199", source="MONDO:equivalentTo", source="DOID:5805", source="MONDO:ontobio"}
xref: SCTID:204368006 {source="MONDO:equivalentTo", source="DOID:5805"}
xref: UMLS:C0340375 {source="MONDO:equivalentTo", source="DOID:5805"}
is_a: MONDO:0004978 {source="DOID:5805", source="EFO:1001199"} ! aortic stenosis
property_value: closeMatch http://identifiers.org/meddra/10042431
property_value: closeMatch http://identifiers.org/snomedct/250915007
property_value: exactMatch DOID:5805
property_value: exactMatch http://identifiers.org/mesh/D001020
property_value: exactMatch http://identifiers.org/snomedct/204368006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340375
property_value: exactMatch NCIT:C85172
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis xsd:anyURI {source="GARD:0005052"}

[Term]
id: MONDO:0006988
name: sulfhemoglobinemia
def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436]
synonym: "Sulfemoglobinemia" EXACT [DOID:12451]
xref: DOID:12451 {source="EFO:1001200", source="MONDO:equivalentTo"}
xref: EFO:1001200 {source="MONDO:equivalentTo"}
xref: MedDRA:10042481 {source="EFO:1001200"}
xref: MESH:D013436 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451", source="MONDO:ontobio"}
xref: SCTID:32117000 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038732 {source="MONDO:equivalentTo", source="DOID:12451"}
is_a: MONDO:0003804 {source="DOID:12451"} ! blood protein disease
property_value: closeMatch http://identifiers.org/meddra/10042481
property_value: closeMatch http://identifiers.org/snomedct/191386007
property_value: closeMatch http://identifiers.org/snomedct/191391008
property_value: exactMatch DOID:12451
property_value: exactMatch http://identifiers.org/mesh/D013436
property_value: exactMatch http://identifiers.org/snomedct/32117000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038732

[Term]
id: MONDO:0006989
name: suppurative periapical periodontitis
def: "Localized collection of pus in the tissues that enclose the root of a tooth." [NCIT:P378]
synonym: "apical abscess" EXACT [DOID:2562]
synonym: "dentoalveolar abscess" EXACT [DOID:2562, MTHICD9_2006:522.5, NCIT:C34913]
synonym: "periapical abscess" EXACT [DOID:2562]
synonym: "periapical dental abscess" EXACT [NCIT:C34913]
synonym: "suppurative apical periodontitis" EXACT [DOID:2562]
xref: DOID:2562 {source="EFO:1001202", source="MONDO:equivalentTo"}
xref: EFO:1001202 {source="MONDO:equivalentTo"}
xref: MESH:D010482 {source="DOID:2562", source="EFO:1001202", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34913 {source="DOID:2562", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031024 {source="DOID:2562", source="MONDO:equivalentTo"}
is_a: MONDO:0004508 {source="DOID:2562", source="MESH:D010482", source="MONDOLEX:0006989"} ! periapical periodontitis
property_value: closeMatch http://identifiers.org/snomedct/109603007
property_value: closeMatch http://identifiers.org/snomedct/196341005
property_value: closeMatch http://identifiers.org/snomedct/34597006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1328248
property_value: exactMatch DOID:2562
property_value: exactMatch http://identifiers.org/mesh/D010482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031024
property_value: exactMatch NCIT:C34913

[Term]
id: MONDO:0006990
name: suppurative uveitis
def: "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." [MESH:D015829]
xref: DOID:13140 {source="MONDO:equivalentTo", source="EFO:1001203"}
xref: EFO:1001203 {source="MONDO:equivalentTo"}
xref: MESH:D015829 {source="MONDO:equivalentTo", source="DOID:13140", source="EFO:1001203", source="MONDO:ontobio"}
xref: UMLS:C0042168 {source="MONDO:equivalentTo", source="DOID:13140"}
is_a: MONDO:0020283 {source="DOID:13140", source="EFO:1001203", source="MESH:D015829"} ! uveitis (disease)
property_value: exactMatch DOID:13140
property_value: exactMatch http://identifiers.org/mesh/D015829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042168

[Term]
id: MONDO:0006991
name: obsolete sympathetic ophthalmia
is_obsolete: true
replaced_by: MONDO:0019198

[Term]
id: MONDO:0006992
name: syphilitic aortitis
def: "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." [MESH:D013589]
xref: EFO:1001206 {source="MONDO:equivalentTo"}
xref: ICD10:A52.02 {source="MONDO:equivalentTo", source="EFO:1001206"}
xref: ICD9:093.1 {source="MONDO:equivalentTo", source="i2s", source="EFO:1001206"}
xref: MedDRA:10042900 {source="EFO:1001206"}
xref: SCTID:20735004 {source="MONDO:equivalentTo", source="EFO:1001206", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003511 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005976 {source="EFO:1001206", source="linkedlifedata", source="linkedlifedata/inferred"} ! syphilis
property_value: closeMatch DOID:11582
property_value: closeMatch http://identifiers.org/meddra/10042900
property_value: closeMatch http://identifiers.org/mesh/D013589
property_value: exactMatch http://identifiers.org/snomedct/20735004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003511

[Term]
id: MONDO:0006993
name: systolic heart failure
def: "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." [MESH:D054143]
xref: COHD:443580 {source="MONDO:equivalentTo"}
xref: DOID:9651 {source="MONDO:equivalentTo", source="EFO:1001207"}
xref: EFO:1001207 {source="MONDO:equivalentTo"}
xref: ICD10:I50.2 {source="EFO:1001207"}
xref: ICD10:I50.20 {source="DOID:9651"}
xref: ICD9:428.2 {source="DOID:9651", source="EFO:1001207"}
xref: ICD9:428.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:9651"}
xref: MedDRA:10074631 {source="EFO:1001207"}
xref: MESH:D054143 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9651", source="EFO:1001207"}
xref: SCTID:417996009 {source="MONDO:equivalentTo", source="DOID:9651", source="EFO:1001207", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1135191 {source="MONDO:equivalentTo", source="DOID:9651"}
is_a: MONDO:0005009 {source="DOID:9651", source="EFO:1001207"} ! congestive heart failure
property_value: closeMatch http://identifiers.org/meddra/10074631
property_value: exactMatch DOID:9651
property_value: exactMatch http://identifiers.org/mesh/D054143
property_value: exactMatch http://identifiers.org/snomedct/417996009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135191

[Term]
id: MONDO:0006994
name: tarsal tunnel syndrome
def: "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." [https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome]
subset: gard_rare {source="GARD:0007733"}
synonym: "neuropathy of the posterior tibial nerve and its branches" RELATED [GARD:0007733]
synonym: "posterior tibial nerve neuralgia" RELATED [GARD:0007733]
xref: COHD:192885 {source="MONDO:equivalentTo"}
xref: DOID:12526 {source="MONDO:equivalentTo", source="EFO:1001208"}
xref: EFO:1001208 {source="MONDO:equivalentTo"}
xref: GARD:0007733 {source="MONDO:equivalentTo"}
xref: ICD10:G57.5 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"}
xref: ICD10:G57.50 {source="DOID:12526"}
xref: ICD9:355.5 {source="DOID:12526", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10043121 {source="EFO:1001208"}
xref: MESH:D013641 {source="DOID:12526", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001208"}
xref: NCIT:C85183 {source="DOID:12526", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001208"}
xref: SCTID:47374004 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0039319 {source="DOID:12526", source="NCIT:C85183", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0006994", source="NCIT:C85183"} ! syndromic disease
is_a: MONDO:0006997 {source="DOID:12526", source="EFO:1001208", source="MESH:D013641", source="linkedlifedata", source="linkedlifedata/inferred"} ! tibial neuropathy
property_value: closeMatch http://identifiers.org/meddra/10043121
property_value: closeMatch http://identifiers.org/snomedct/155077008
property_value: exactMatch DOID:12526
property_value: exactMatch http://identifiers.org/mesh/D013641
property_value: exactMatch http://identifiers.org/snomedct/47374004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039319
property_value: exactMatch NCIT:C85183
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome xsd:anyURI {source="GARD:0007733"}

[Term]
id: MONDO:0006995
name: tethered spinal cord syndrome
def: "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." [NCIT:P378]
synonym: "spinal cord syndrome" EXACT [NCIT:C99080]
synonym: "spinal dysraphism" EXACT EXCLUDE [DOID:1089]
synonym: "tethered cord" EXACT [NCIT:C99080]
xref: DOID:1089 {source="EFO:1001210", source="MONDO:equivalentTo"}
xref: EFO:1001210 {source="MONDO:equivalentTo"}
xref: ICD10:Q05 {source="DOID:1089"}
xref: ICD10:Q05.9 {source="DOID:1089"}
xref: ICD9:741 {source="DOID:1089"}
xref: ICD9:756.19 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C99080 {source="EFO:1001210", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.14"}
xref: SCTID:249491000119100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
is_a: MONDO:0002254 {source="MONDOLEX:0006995", source="NCIT:C99080"} ! syndromic disease
is_a: MONDO:0002545 {source="DOID:1089"} ! spinal cord disease
property_value: closeMatch http://identifiers.org/snomedct/156888006
property_value: closeMatch http://identifiers.org/snomedct/204017003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0080218
property_value: exactMatch DOID:1089
property_value: exactMatch http://identifiers.org/snomedct/249491000119100
property_value: exactMatch NCIT:C99080

[Term]
id: MONDO:0006996
name: thyroid crisis (disease)
def: "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." [NCIT:P378]
synonym: "thyroid crisis" EXACT [DOID:12837, MONDO:ambiguous]
synonym: "thyroid storm" EXACT [NCIT:C112836]
synonym: "thyrotoxic crisis" EXACT [DOID:12837]
xref: DOID:12837 {source="MONDO:equivalentTo", source="EFO:1001212"}
xref: EFO:1001212 {source="MONDO:equivalentTo"}
xref: HP:0011782 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E05.5 {source="EFO:1001212"}
xref: ICD9:242.81 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:242.91 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043705 {source="EFO:1001212"}
xref: MESH:D013958 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212", source="MONDO:ontobio"}
xref: NCIT:C112836 {source="MONDO:equivalentTo", source="DOID:12837"}
xref: SCTID:29028009 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040127 {source="MONDO:equivalentTo", source="DOID:12837"}
is_a: MONDO:0004425 {source="MESH:D013958/inferred", source="NCIT:C112836", source="linkedlifedata/inferred"} ! hyperthyroidism
property_value: closeMatch http://identifiers.org/meddra/10043705
property_value: closeMatch http://identifiers.org/snomedct/190262002
property_value: exactMatch DOID:12837
property_value: exactMatch http://identifiers.org/mesh/D013958
property_value: exactMatch http://identifiers.org/snomedct/29028009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040127
property_value: exactMatch NCIT:C112836

[Term]
id: MONDO:0006997
name: tibial neuropathy
def: "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429]
synonym: "Posterior tibial neuropathy" EXACT [DOID:1187]
synonym: "tibial neuropathy (disorder) [ambiguous]" EXACT [DOID:1187]
xref: DOID:1187 {source="EFO:1001213", source="MONDO:equivalentTo"}
xref: EFO:1001213 {source="MONDO:equivalentTo"}
xref: MESH:D020429 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:399076001 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751932 {source="DOID:1187", source="MONDO:equivalentTo"}
is_a: MONDO:0001397 {source="DOID:1187", source="MESH:D020429"} ! mononeuropathy
property_value: closeMatch http://identifiers.org/snomedct/35062009
property_value: closeMatch http://identifiers.org/snomedct/359842002
property_value: closeMatch http://identifiers.org/snomedct/399364006
property_value: exactMatch DOID:1187
property_value: exactMatch http://identifiers.org/mesh/D020429
property_value: exactMatch http://identifiers.org/snomedct/399076001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751932

[Term]
id: MONDO:0006998
name: tonsil cancer
def: "A primary or metastatic malignant neoplasm that affects the tonsil." [NCIT:C7404]
synonym: "cancer of tonsil" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of faucial tonsil" EXACT [DOID:8858]
synonym: "malignant neoplasm of palatine tonsil" EXACT [DOID:8858]
synonym: "malignant neoplasm of the tonsil" EXACT [NCIT:C7404]
synonym: "malignant neoplasm of tonsil" EXACT [MONDO:patterns/cancer, NCIT:C7404]
synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858, MTHICD9_2006:146.0]
synonym: "malignant tonsil neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7404]
synonym: "malignant tonsil tumor" EXACT [NCIT:C7404]
synonym: "malignant tonsillar neoplasm" EXACT [NCIT:C7404]
synonym: "malignant tonsillar tumor" EXACT [DOID:8858, NCIT:C7404]
synonym: "malignant tumor of the tonsil" EXACT [NCIT:C7404]
synonym: "malignant tumor of tonsil" EXACT [NCIT:C7404]
synonym: "tonsil cancer" EXACT [MONDO:patterns/location]
xref: COHD:4181339 {source="MONDO:equivalentTo"}
xref: DOID:8858 {source="MONDO:equivalentTo", source="EFO:1001214"}
xref: EFO:1001214 {source="MONDO:equivalentTo"}
xref: ICD10:C09 {source="MONDO:equivalentTo", source="DOID:8858"}
xref: ICD10:C09.9 {source="DOID:8858"}
xref: ICD9:146.0 {source="MONDO:equivalentTo", source="DOID:8858", source="i2s"}
xref: MedDRA:10044002 {source="EFO:1001214"}
xref: MESH:D014067 {source="MONDO:equivalentTo", source="DOID:8858", source="EFO:1001214", source="MONDO:ontobio"}
xref: NCIT:C7404 {source="MONDO:equivalentTo", source="DOID:8858"}
xref: SCTID:363393007 {source="MONDO:equivalentTo", source="DOID:8858", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751560 {source="MONDO:equivalentTo", source="DOID:8858", source="NCIT:C7404"}
is_a: MONDO:0004685 {source="MONDO:Redundant", source="linkedlifedata"} ! Waldeyer's ring cancer
is_a: MONDO:0021250 {source="MONDO:Redundant", source="NCIT:C7404", source="linkedlifedata"} ! tonsil neoplasm
property_value: closeMatch http://identifiers.org/meddra/10044002
property_value: closeMatch http://identifiers.org/snomedct/187671001
property_value: closeMatch http://identifiers.org/snomedct/187672008
property_value: closeMatch http://identifiers.org/snomedct/187674009
property_value: closeMatch http://identifiers.org/snomedct/93937006
property_value: exactMatch DOID:8858
property_value: exactMatch http://identifiers.org/mesh/D014067
property_value: exactMatch http://identifiers.org/snomedct/363393007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751560
property_value: exactMatch NCIT:C7404

[Term]
id: MONDO:0006999
name: tooth disease
def: "A disease involving the calcareous tooth." [MONDO:DesignPattern]
synonym: "calcareous tooth disease" EXACT [MONDO:patterns/location]
synonym: "calcareous tooth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental disorder" EXACT [CSP2005:0828-0533, DOID:1091]
synonym: "disease of calcareous tooth" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of calcareous tooth" EXACT []
synonym: "disorder of calcareous tooth" EXACT [MONDO:patterns/location_top]
synonym: "disorder of calcareous tooth" RELATED [MONDO:patterns/location_top]
synonym: "tooth disorder" EXACT [NCIT:C35077]
xref: DOID:1091 {source="MONDO:equivalentTo", source="EFO:1001216"}
xref: EFO:1001216 {source="MONDO:equivalentTo"}
xref: MESH:D014076 {source="MONDO:equivalentTo", source="DOID:1091", source="MONDO:ontobio"}
xref: NCIT:C35077 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: SCTID:234947003 {source="MONDO:kboom-pr-1.00/0.79/8.24", source="MONDO:equivalentTo", source="DOID:1091", source="EFO:1001216"}
xref: UMLS:C0040435 {source="NCIT:C35077", source="MONDO:equivalentTo", source="DOID:1091"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0006858 {source="DOID:1091", source="EFO:1001216", source="NCIT:C35077/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
property_value: closeMatch http://identifiers.org/mesh/DO14076
property_value: closeMatch http://identifiers.org/snomedct/155631000
property_value: closeMatch http://identifiers.org/snomedct/266485001
property_value: closeMatch http://identifiers.org/snomedct/367503003
property_value: closeMatch http://identifiers.org/snomedct/72722003
property_value: exactMatch DOID:1091
property_value: exactMatch http://identifiers.org/mesh/D014076
property_value: exactMatch http://identifiers.org/snomedct/234947003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040435
property_value: exactMatch NCIT:C35077

[Term]
id: MONDO:0007000
name: Treponema infectious disease
def: "An disease caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "bejel" NARROW [MESH:D014211]
synonym: "Bejels" NARROW [MESH:D014211]
synonym: "infection, Treponemal" RELATED [MESH:D014211]
synonym: "infections, Treponemal" RELATED [MESH:D014211]
synonym: "Treponema caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema disease or disorder" EXACT []
synonym: "Treponemal infection" RELATED [MESH:D014211]
xref: EFO:1001217 {source="MONDO:equivalentTo"}
xref: GARD:0007798 {source="MONDO:equivalentTo"}
xref: MESH:D014211 {source="MONDO:equivalentTo", source="EFO:1001217"}
xref: NCIT:C85197 {source="MONDO:equivalentTo"}
is_a: MONDO:0005323 ! bacterial sexually transmitted disease
is_a: MONDO:0021678 {source="MESH:D014211"} ! gram-negative bacterial infections
is_a: MONDO:0021839 ! spirochaetales infections
property_value: closeMatch DOID:2265
property_value: exactMatch http://identifiers.org/mesh/D014211
property_value: exactMatch NCIT:C85197

[Term]
id: MONDO:0007001
name: tricuspid valve prolapse (disease)
def: "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." [MESH:D014263]
subset: ordo_morphological_anomaly {source="Orphanet:95458"}
synonym: "tricuspid valve prolapse" EXACT [MONDO:ambiguous]
xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"}
xref: EFO:1001218 {source="MONDO:equivalentTo"}
xref: HP:0001704 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q22.8 {source="ORDO:95458/ntbt", source="Orphanet:95458"}
xref: MedDRA:10066862 {source="ORDO:95458/e", source="Orphanet:95458"}
xref: MESH:D014263 {source="DOID:5644", source="ORDO:95458/e", source="MONDO:equivalentTo", source="Orphanet:95458", source="MONDO:ontobio", source="EFO:1001218"}
xref: Orphanet:95458 {source="MONDO:equivalentTo"}
xref: SCTID:253383003 {source="DOID:5644", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040962 {source="MEDGEN:kboom-pr97-c99", source="DOID:5644", source="ORDO:95458/e", source="MONDO:equivalentTo", source="Orphanet:95458"}
is_a: MONDO:0005561 {source="EFO:1001218"} ! aortic disease
is_a: MONDO:0020289 {source="Orphanet:95458"} ! congenital tricuspid malformation
property_value: exactMatch DOID:5644
property_value: exactMatch http://identifiers.org/meddra/10066862
property_value: exactMatch http://identifiers.org/mesh/D014263
property_value: exactMatch http://identifiers.org/snomedct/253383003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040962
property_value: exactMatch Orphanet:95458

[Term]
id: MONDO:0007002
name: trochlear nerve disease
def: "A disease involving the trochlear nerve." [MONDO:DesignPattern]
synonym: "disease of trochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trochlear nerve" EXACT []
synonym: "disorder of trochlear nerve" EXACT [DOID:13864, MONDO:patterns/location_top]
synonym: "disorder of trochlear nerve" RELATED [MONDO:patterns/location_top]
synonym: "IVth cranial nerve disorder" EXACT [NCIT:C78395]
synonym: "IVth nerve disorder" EXACT [NCIT:C78395]
synonym: "superior oblique muscle innervation disorder" EXACT [DOID:13864]
synonym: "trochlear nerve disease" EXACT [MONDO:patterns/location]
synonym: "trochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trochlear nerve disorder" EXACT [NCIT:C78395]
synonym: "trochlear nerve disorder, NOS" RELATED EXCLUDE [DOID:13864]
xref: DOID:13864 {source="EFO:1001220", source="MONDO:equivalentTo"}
xref: EFO:1001220 {source="MONDO:equivalentTo"}
xref: ICD10:H49.1 {source="DOID:13864"}
xref: ICD9:378.53 {source="MONDO:relatedTo", source="DOID:13864"}
xref: MedDRA:10074765 {source="EFO:1001220"}
xref: MESH:D020432 {source="EFO:1001220", source="MONDO:equivalentTo", source="DOID:13864"}
xref: NCIT:C78395 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo", source="DOID:13864"}
is_a: MONDO:0003569 {source="DOID:13864", source="MESH:D020432", source="MONDO:Redundant", source="NCIT:C78395"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
property_value: closeMatch http://identifiers.org/meddra/10074765
property_value: closeMatch http://identifiers.org/snomedct/14904006
property_value: closeMatch http://identifiers.org/snomedct/230532006
property_value: closeMatch http://identifiers.org/snomedct/246781001
property_value: closeMatch http://identifiers.org/snomedct/67883005
property_value: closeMatch http://identifiers.org/snomedct/6845000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271375
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423092
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751939
property_value: exactMatch DOID:13864
property_value: exactMatch http://identifiers.org/mesh/D020432
property_value: exactMatch NCIT:C78395

[Term]
id: MONDO:0007003
name: obsolete twin-to-twin transfusion syndrome
is_obsolete: true
replaced_by: MONDO:0019805

[Term]
id: MONDO:0007004
name: type III hypersensitivity disease
def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." [MESH:D007105]
synonym: "disorder of type III hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of type III hypersensitivity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "hypersensitivity reaction type III disease" RELATED [DOID:1557]
synonym: "immune complex disease" EXACT [CSP2005:1560-5864, DOID:1557]
synonym: "type 3 hypersensitivity reaction" EXACT [NCIT:C114346]
synonym: "type III hypersensitivity" EXACT [NCIT:C114346]
synonym: "type III hypersensitivity reaction" EXACT [NCIT:C114346]
xref: DOID:1557 {source="EFO:1001222", source="MONDO:equivalentTo"}
xref: EFO:1001222 {source="MONDO:equivalentTo"}
xref: MedDRA:10045265 {source="EFO:1001222"}
xref: MESH:D007105 {source="EFO:1001222", source="MONDO:equivalentTo", source="DOID:1557", source="MONDO:ontobio"}
xref: NCIT:C114346 {source="MONDO:equivalentTo"}
xref: UMLS:C0020951 {source="MONDO:equivalentTo", source="DOID:1557", source="NCIT:C114346"}
is_a: MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://identifiers.org/meddra/10045265
property_value: exactMatch DOID:1557
property_value: exactMatch http://identifiers.org/mesh/D007105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020951
property_value: exactMatch NCIT:C114346

[Term]
id: MONDO:0007005
name: ulcerative proctosigmoiditis
def: "Inflammation of the rectum and the distal portion of the colon." [MESH:D011350]
xref: EFO:1001223 {source="MONDO:equivalentTo"}
xref: ICD9:556.3 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:52506002 {source="MONDO:kboom-pr-1.00/0.79/7.87", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="EFO:1001223", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory bowel disease
property_value: closeMatch DOID:8775
property_value: closeMatch http://identifiers.org/mesh/D011350
property_value: exactMatch http://identifiers.org/snomedct/52506002

[Term]
id: MONDO:0007006
name: ulnar neuropathy
def: "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424]
synonym: "mononeuropathy of ulnar nerve" EXACT [MONDO:design_pattern]
synonym: "ulnar nerve mononeuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ulnar neuropathy" EXACT [DOID:4613]
synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [DOID:4613]
xref: DOID:4613 {source="EFO:1001224", source="MONDO:equivalentTo"}
xref: EFO:1001224 {source="MONDO:equivalentTo"}
xref: MESH:D020424 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:359837005 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154743 {source="DOID:4613", source="MONDO:equivalentTo"}
is_a: MONDO:0001397 {source="DOID:4613", source="MESH:D020424", source="MONDO:Redundant"} ! mononeuropathy
is_a: MONDO:0006683 ! brachial plexus neuropathy
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/367399005
property_value: closeMatch http://identifiers.org/snomedct/394515001
property_value: closeMatch http://identifiers.org/snomedct/395205004
property_value: closeMatch http://identifiers.org/snomedct/55802003
property_value: exactMatch DOID:4613
property_value: exactMatch http://identifiers.org/mesh/D020424
property_value: exactMatch http://identifiers.org/snomedct/359837005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154743

[Term]
id: MONDO:0007007
name: Ureaplasma urethritis
def: "Infections with bacteria of the genus ureaplasma." [MESH:D016869]
synonym: "infection, Ureaplasma" RELATED [MESH:D016869]
synonym: "infections, Ureaplasma" RELATED [MESH:D016869]
synonym: "Ureaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ureaplasma disease or disorder" EXACT []
synonym: "Ureaplasma infection" RELATED [MESH:D016869]
synonym: "Ureaplasma infectious disease" EXACT []
xref: EFO:1001225 {source="MONDO:equivalentTo"}
xref: MESH:D016869 {source="MONDO:equivalentTo", source="EFO:1001225"}
xref: SCTID:51105006 {source="MONDO:equivalentTo", source="EFO:1001225"}
is_a: MONDO:0005297 {source="MONDO:cjm", source="linkedlifedata"} ! urethritis (disease)
property_value: closeMatch DOID:3100
property_value: exactMatch http://identifiers.org/mesh/D016869
property_value: exactMatch http://identifiers.org/snomedct/51105006

[Term]
id: MONDO:0007008
name: uremia
def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [MESH:D014511]
synonym: "uremia of renal origin" EXACT [DOID:4676, MTH:NOCODE]
xref: DOID:4676 {source="MONDO:equivalentTo", source="EFO:1001226"}
xref: EFO:1001226 {source="MONDO:equivalentTo"}
xref: ICD10:N19 {source="DOID:4676"}
xref: MedDRA:10046369 {source="EFO:1001226"}
xref: MESH:D014511 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226", source="MONDO:ontobio"}
xref: SCTID:44730006 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0041948 {source="DOID:4676", source="MONDO:equivalentTo"}
is_a: MONDO:0001106 {source="DOID:4676"} ! kidney failure
property_value: closeMatch http://identifiers.org/meddra/10046369
property_value: closeMatch http://identifiers.org/snomedct/197656003
property_value: closeMatch http://identifiers.org/snomedct/266616000
property_value: exactMatch DOID:4676
property_value: exactMatch http://identifiers.org/mesh/D014511
property_value: exactMatch http://identifiers.org/snomedct/44730006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041948

[Term]
id: MONDO:0007009
name: ureterolithiasis
def: "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378]
synonym: "calculus of ureter" EXACT [DOID:14146, ICD9CM_2006:592.1]
synonym: "ureteric calculus" EXACT [DOID:14146]
synonym: "ureteric stone" EXACT [DOID:14146, MTHICD9_2006:592.1]
xref: COHD:201916 {source="MONDO:equivalentTo"}
xref: DOID:14146 {source="MONDO:equivalentTo", source="EFO:1001228"}
xref: EFO:1001228 {source="MONDO:equivalentTo"}
xref: ICD9:592.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14146"}
xref: MESH:D053039 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228", source="MONDO:ontobio"}
xref: NCIT:C114696 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:14146", source="EFO:1001228"}
xref: SCTID:31054009 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0041952 {source="MONDO:equivalentTo", source="NCIT:C114696", source="DOID:14146"}
is_a: MONDO:0001926 {source="DOID:14146", source="MESH:D053039", source="NCIT:C114696/inferred", source="linkedlifedata"} ! ureteral disease
is_a: MONDO:0006026 {source="EFO:1001228"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/95573009
property_value: exactMatch DOID:14146
property_value: exactMatch http://identifiers.org/mesh/D053039
property_value: exactMatch http://identifiers.org/snomedct/31054009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041952
property_value: exactMatch NCIT:C114696

[Term]
id: MONDO:0007010
name: obsolete uveitis
is_obsolete: true
replaced_by: MONDO:0020283

[Term]
id: MONDO:0007011
name: uveoparotid fever
def: "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." [MESH:D014608]
synonym: "Heerfordt's syndrome" EXACT [DOID:13404]
synonym: "uveoparotid fever" EXACT [DOID:13404, MTHICD9_2006:135]
xref: DOID:13404 {source="EFO:1001232", source="MONDO:equivalentTo"}
xref: EFO:1001232 {source="MONDO:equivalentTo"}
xref: ICD10:D86.89 {source="DOID:13404"}
xref: MESH:D014608 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:4416007 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042171 {source="DOID:13404", source="MONDO:equivalentTo"}
is_a: MONDO:0019338 {source="DOID:13404", source="EFO:1001232", source="MESH:D014608", source="linkedlifedata/inferred"} ! sarcoidosis
property_value: exactMatch DOID:13404
property_value: exactMatch http://identifiers.org/mesh/D014608
property_value: exactMatch http://identifiers.org/snomedct/4416007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042171

[Term]
id: MONDO:0007012
name: variant Creutzfeldt-Jakob disease
def: "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." [NCIT:C128438]
synonym: "vCJD" EXACT [NCIT:C128438]
xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"}
xref: EFO:1001233 {source="MONDO:equivalentTo"}
xref: GARD:0009550 {source="MONDO:equivalentTo"}
xref: ICD10:A81.01 {source="EFO:1001233", source="MONDO:equivalentTo"}
xref: ICD9:046.11 {source="EFO:1001233", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10064199 {source="EFO:1001233"}
xref: MONDO:0005409 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C128438 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.40"}
xref: SCTID:304603007 {source="EFO:1001233", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0085209 {source="DOID:5435", source="MONDO:equivalentTo"}
is_a: MONDO:0005357 {source="EFO:0004597"} ! Creutzfeldt Jacob disease
relationship: excluded_subClassOf MONDO:0005429 {source="DOID:5435", source="EFO:1001233", source="MONDOLEX:0007012"} ! prion disease
property_value: closeMatch http://identifiers.org/meddra/10064199
property_value: closeMatch http://identifiers.org/snomedct/52869003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0376329
property_value: exactMatch DOID:5435
property_value: exactMatch http://identifiers.org/snomedct/304603007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085209
property_value: exactMatch NCIT:C128438

[Term]
id: MONDO:0007013
name: vasculogenic impotence
def: "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." [MESH:D018783]
xref: DOID:4762 {source="MONDO:equivalentTo", source="EFO:1001234"}
xref: EFO:1001234 {source="MONDO:equivalentTo"}
xref: MESH:D018783 {source="DOID:4762", source="MONDO:equivalentTo", source="EFO:1001234", source="MONDO:ontobio"}
xref: UMLS:C0243000 {source="DOID:4762", source="MONDO:equivalentTo"}
is_a: MONDO:0005362 {source="DOID:4762", source="EFO:1001234", source="MESH:D018783"} ! erectile dysfunction (disease)
property_value: exactMatch DOID:4762
property_value: exactMatch http://identifiers.org/mesh/D018783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243000

[Term]
id: MONDO:0007014
name: vibrio infectious disease
def: "Infections with bacteria of the genus vibrio." [MESH:D014735]
synonym: "Vibrio caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio disease or disorder" EXACT []
synonym: "Vibrio infectious disease" EXACT []
synonym: "vibrio infectious disease" EXACT []
xref: EFO:1001235 {source="MONDO:equivalentTo"}
xref: MESH:D014735 {source="EFO:1001235", source="MONDO:equivalentTo"}
xref: UMLS:C0042636 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001235", source="MESH:D014735/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
property_value: closeMatch DOID:1499
property_value: exactMatch http://identifiers.org/mesh/D014735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042636

[Term]
id: MONDO:0007015
name: viral meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection." [NCIT:P378]
xref: COHD:433403 {source="MONDO:equivalentTo"}
xref: DOID:10310 {source="MONDO:equivalentTo", source="EFO:1001236"}
xref: EFO:1001236 {source="MONDO:equivalentTo"}
xref: ICD10:A87 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"}
xref: ICD10:A87.9 {source="DOID:10310"}
xref: ICD9:047.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:047.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:10310"}
xref: ICD9:321.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10047469 {source="EFO:1001236"}
xref: MESH:D008587 {source="MONDO:equivalentTo", source="EFO:1001236", source="MONDO:ontobio", source="DOID:10310"}
xref: NCIT:C118298 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001236", source="DOID:10310"}
xref: SCTID:58170007 {source="MONDO:equivalentTo", source="EFO:1001236", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10310"}
xref: UMLS:C0025297 {source="NCIT:C118298", source="MONDO:equivalentTo", source="DOID:10310"}
is_a: MONDO:0004796 {source="DOID:10310", source="EFO:1001236", source="MESH:D008587", source="NCIT:C118298", source="linkedlifedata"} ! infectious meningitis
is_a: MONDO:0006662 ! aseptic meningitis
property_value: closeMatch http://identifiers.org/meddra/10047469
property_value: closeMatch http://identifiers.org/snomedct/154321007
property_value: closeMatch http://identifiers.org/snomedct/154984006
property_value: closeMatch http://identifiers.org/snomedct/154985007
property_value: closeMatch http://identifiers.org/snomedct/186490006
property_value: closeMatch http://identifiers.org/snomedct/187403007
property_value: closeMatch http://identifiers.org/snomedct/192672003
property_value: closeMatch http://identifiers.org/snomedct/266097006
property_value: closeMatch http://identifiers.org/snomedct/266190006
property_value: closeMatch http://identifiers.org/snomedct/267575007
property_value: closeMatch http://identifiers.org/snomedct/267680008
property_value: exactMatch DOID:10310
property_value: exactMatch http://identifiers.org/mesh/D008587
property_value: exactMatch http://identifiers.org/snomedct/58170007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025297
property_value: exactMatch NCIT:C118298

[Term]
id: MONDO:0007016
name: vitamin A deficiency (disease)
def: "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." [NCIT:C85220]
synonym: "deficiencies, vitamin A" RELATED [MESH:D014802]
synonym: "deficiency, vitamin A" RELATED [MESH:D014802]
synonym: "vitamin A deficiencies" RELATED [MESH:D014802]
synonym: "vitamin A deficiency" EXACT [MONDO:ambiguous, NCIT:C85220]
xref: EFO:1001237 {source="MONDO:equivalentTo"}
xref: HP:0004905 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:264 {source="EFO:1001237"}
xref: ICD9:264.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:264.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10047586 {source="EFO:1001237"}
xref: MESH:D014802 {source="MONDO:equivalentTo", source="EFO:1001237"}
xref: NCIT:C85220 {source="MONDO:kboom-pr-0.90/0.76/0.51", source="MONDO:equivalentTo", source="EFO:1001237"}
xref: SCTID:72000004 {source="MONDO:kboom-pr-0.89/0.76/0.36", source="MONDO:equivalentTo", source="EFO:1001237"}
xref: UMLS:C0042842 {source="MONDO:equivalentTo", source="NCIT:C85220"}
is_a: MONDO:0024298 {source="MESH:D014802", source="NCIT:C85220", source="linkedlifedata"} ! vitamin deficiency disorder
property_value: closeMatch DOID:10257
property_value: closeMatch http://identifiers.org/meddra/10047586
property_value: exactMatch http://identifiers.org/mesh/D014802
property_value: exactMatch http://identifiers.org/snomedct/72000004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042842
property_value: exactMatch NCIT:C85220

[Term]
id: MONDO:0007017
name: vitreous detachment
def: "Detachment of the vitreous humor from the retina." [NCIT:P378]
synonym: "detachment Of vitreous" EXACT [NCIT:C50807]
synonym: "vitreous, detachment Of" EXACT [NCIT:C50807]
xref: DOID:9726 {source="MONDO:equivalentTo", source="EFO:1001238"}
xref: EFO:1001238 {source="MONDO:equivalentTo"}
xref: ICD10:H43.81 {source="DOID:9726"}
xref: MedDRA:10047650 {source="EFO:1001238"}
xref: MESH:D020255 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238", source="MONDO:ontobio"}
xref: NCIT:C50807 {source="DOID:9726", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001238"}
xref: SCTID:53772007 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042907 {source="DOID:9726", source="MONDO:equivalentTo", source="NCIT:C50807"}
is_a: MONDO:0004860 {source="DOID:9726"} ! vitreous disease
is_a: MONDO:0020246 {source="EFO:1001238"} ! inherited vitreoretinopathy
property_value: closeMatch http://identifiers.org/meddra/10047650
property_value: closeMatch http://identifiers.org/snomedct/155202007
property_value: closeMatch http://identifiers.org/snomedct/267747007
property_value: closeMatch http://identifiers.org/snomedct/393583008
property_value: exactMatch DOID:9726
property_value: exactMatch http://identifiers.org/mesh/D020255
property_value: exactMatch http://identifiers.org/snomedct/53772007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042907
property_value: exactMatch NCIT:C50807

[Term]
id: MONDO:0007018
name: vulvitis
def: "Inflammation of the vulva. It is characterized by pruritus and painful urination." [MESH:D014847]
synonym: "inflammation of mammalian vulva" EXACT []
synonym: "mammalian vulva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3901 {source="MONDO:equivalentTo", source="EFO:1001239"}
xref: EFO:1001239 {source="MONDO:equivalentTo"}
xref: ICD10:N76.2 {source="DOID:3901"}
xref: MedDRA:10047780 {source="EFO:1001239"}
xref: MESH:D014847 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901", source="MONDO:ontobio"}
xref: SCTID:63144007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001239", source="DOID:3901"}
xref: UMLS:C0042996 {source="MONDO:equivalentTo", source="DOID:3901"}
is_a: MONDO:0002187 {source="DOID:3901", source="MESH:D014847", source="linkedlifedata"} ! vulvar disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/meddra/10047780
property_value: closeMatch http://identifiers.org/snomedct/155981006
property_value: closeMatch http://identifiers.org/snomedct/198214007
property_value: closeMatch http://identifiers.org/snomedct/266586003
property_value: closeMatch http://identifiers.org/snomedct/266655004
property_value: exactMatch DOID:3901
property_value: exactMatch http://identifiers.org/mesh/D014847
property_value: exactMatch http://identifiers.org/snomedct/63144007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042996

[Term]
id: MONDO:0007019
name: vulvovaginitis
def: "An inflammatory pathologic process that affects the vulva and the vagina." [NCIT:P378]
synonym: "Vulvo-vaginitis" EXACT [DOID:2273]
xref: COHD:4180978 {source="MONDO:equivalentTo"}
xref: DOID:2273 {source="EFO:1001240", source="MONDO:equivalentTo"}
xref: EFO:1001240 {source="MONDO:equivalentTo"}
xref: ICD10:N76.0 {source="DOID:2273"}
xref: MedDRA:10047794 {source="EFO:1001240"}
xref: MESH:D014848 {source="EFO:1001240", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2273"}
xref: NCIT:C35131 {source="EFO:1001240", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2273"}
xref: SCTID:53277000 {source="EFO:1001240", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2273"}
xref: UMLS:C0042998 {source="NCIT:C35131", source="MONDO:equivalentTo", source="DOID:2273"}
is_a: MONDO:0002234 ! vaginitis (disease)
is_a: MONDO:0007018 {source="MESH:D014848", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! vulvitis
property_value: closeMatch http://identifiers.org/meddra/10047794
property_value: closeMatch http://identifiers.org/snomedct/155981006
property_value: closeMatch http://identifiers.org/snomedct/198215008
property_value: closeMatch http://identifiers.org/snomedct/266655004
property_value: exactMatch DOID:2273
property_value: exactMatch http://identifiers.org/mesh/D014848
property_value: exactMatch http://identifiers.org/snomedct/53277000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042998
property_value: exactMatch NCIT:C35131

[Term]
id: MONDO:0007020
name: Wernicke encephalopathy
def: "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" [MESH:D014899]
synonym: "Wernicke's disease" EXACT [DOID:2384]
synonym: "Wernicke's encephalopathy" EXACT [DOID:2384]
xref: DOID:2384 {source="EFO:1001241", source="MONDO:equivalentTo"}
xref: EFO:1001241 {source="MONDO:equivalentTo"}
xref: ICD10:E51.2 {source="DOID:2384", source="MONDO:equivalentTo"}
xref: ICD9:265.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014899 {source="DOID:2384", source="EFO:1001241", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:21007002 {source="DOID:2384", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0043121 {source="DOID:2384", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:2384", source="EFO:1001241", source="MESH:D014899/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
is_a: MONDO:0021698 {source="MESH:D014899"} ! alcohol-related disorders
property_value: closeMatch http://identifiers.org/snomedct/190626005
property_value: closeMatch http://identifiers.org/snomedct/190627001
property_value: exactMatch DOID:2384
property_value: exactMatch http://identifiers.org/mesh/D014899
property_value: exactMatch http://identifiers.org/snomedct/21007002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043121

[Term]
id: MONDO:0007021
name: wheat allergic disease
def: "Allergic reaction to wheat that is triggered by the immune system." [EFO:1001243]
synonym: "allergic disease from wheat based food product" EXACT []
synonym: "allergy of wheat based food product" EXACT [MONDO:patterns/allergy]
synonym: "allergy to wheat" EXACT [DOID:3660]
synonym: "wheat allergic reaction" RELATED [DOID:3660]
synonym: "wheat allergy" RELATED [DOID:3660]
synonym: "wheat based food product allergic disease" EXACT [MONDO:patterns/environmental_stimulus]
xref: DOID:3660 {source="EFO:1001243", source="MONDO:equivalentTo"}
xref: EFO:1001243 {source="MONDO:equivalentTo"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D021182 {source="DOID:3660", source="EFO:1001243", source="MONDO:equivalentTo"}
xref: SCTID:420174000 {source="DOID:3660", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0949570 {source="DOID:3660", source="MONDO:equivalentTo"}
is_a: MONDO:0002497 {source="DOID:3660", source="EFO:1001243", source="MESH:D021182", source="MONDO:Redundant", source="linkedlifedata"} ! food allergy
property_value: exactMatch DOID:3660
property_value: exactMatch http://identifiers.org/mesh/D021182
property_value: exactMatch http://identifiers.org/snomedct/420174000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949570

[Term]
id: MONDO:0007022
name: xanthogranulomatous pyelonephritis
def: "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." [NCIT:P378]
synonym: "xanthogranulomatous pyelonephritis" EXACT [DOID:11401]
xref: DOID:11401 {source="EFO:1001244", source="MONDO:equivalentTo"}
xref: EFO:1001244 {source="MONDO:equivalentTo"}
xref: GARD:0012021 {source="MONDO:equivalentTo"}
xref: ICD9:582.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10074389 {source="EFO:1001244"}
xref: MESH:D011705 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123038 {source="DOID:11401", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: SCTID:38898003 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0034188 {source="DOID:11401", source="MONDO:equivalentTo", source="NCIT:C123038"}
is_a: MONDO:0001110 {source="DOID:11401", source="linkedlifedata"} ! chronic pyelonephritis
property_value: closeMatch http://identifiers.org/meddra/10074389
property_value: closeMatch http://identifiers.org/snomedct/197777006
property_value: exactMatch DOID:11401
property_value: exactMatch http://identifiers.org/mesh/D011705
property_value: exactMatch http://identifiers.org/snomedct/38898003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034188
property_value: exactMatch NCIT:C123038

[Term]
id: MONDO:0007023
name: Yersinia infectious disease
def: "Infections with bacteria of the genus yersinia." [https://en.wikipedia.org/wiki/Yersiniosis, MESH:D015009]
synonym: "infection, Yersinia" RELATED [MESH:D015009]
synonym: "infections, Yersinia" RELATED [MESH:D015009]
synonym: "infections, Yersinia <bacteria>" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Yersinia <bacteria> infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Yersinia infection" RELATED [MESH:D015009]
synonym: "yersiniosis" EXACT []
xref: EFO:1001245 {source="MONDO:equivalentTo"}
xref: MESH:D015009 {source="MONDO:equivalentTo", source="EFO:1001245"}
xref: NCIT:C128337 {source="MONDO:equivalentTo"}
xref: SCTID:83436008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.53"}
is_a: MONDO:0005113 {source="EFO:1001245", source="MESH:D015009/inferred", source="MONDO:Redundant", source="NCIT:C128337", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: closeMatch DOID:3300
property_value: exactMatch http://identifiers.org/mesh/D015009
property_value: exactMatch http://identifiers.org/snomedct/83436008
property_value: exactMatch NCIT:C128337

[Term]
id: MONDO:0007024
name: Yersinia pseudotuberculosis infectious disease
def: "Infections with bacteria of the species yersinia pseudotuberculosis." [MESH:D015012]
synonym: "infection by Pasteurella pseudotuberculosis" RELATED []
synonym: "infection by Yersinia pseudotuberculosis" RELATED []
synonym: "infections, Yersinia pseudotuberculosis" EXACT [MESH:D015012]
synonym: "Pasteurella Pseudotuberculoses" RELATED [MESH:D015012]
synonym: "Pasteurella pseudotuberculosis" RELATED [MESH:D015012]
synonym: "Pseudotuberculoses, Pasteurella" RELATED [MESH:D015012]
synonym: "pseudotuberculosis" EXACT []
synonym: "pseudotuberculosis, Pasteurella" RELATED [MESH:D015012]
xref: EFO:1001246 {source="MONDO:equivalentTo"}
xref: MESH:D015012 {source="EFO:1001246", source="MONDO:equivalentTo"}
xref: SCTID:36753006 {source="MONDO:equivalentTo"}
xref: UMLS:C0043410 {source="MONDO:equivalentTo"}
is_a: MONDO:0007023 {source="MESH:D015012", source="MONDO:Redundant", source="linkedlifedata"} ! Yersinia infectious disease
property_value: closeMatch DOID:3299
property_value: exactMatch http://identifiers.org/mesh/D015012
property_value: exactMatch http://identifiers.org/snomedct/36753006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043410

[Term]
id: MONDO:0007025
name: chancre
def: "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." [EFO:1001247]
xref: EFO:1001247 {source="MONDO:equivalentTo"}
xref: MESH:D002601 {source="MONDO:equivalentTo", source="EFO:1001247", source="MONDO:ontobio"}
is_a: MONDO:0005976 {source="EFO:1001247", source="MESH:D002601"} ! syphilis
property_value: exactMatch http://identifiers.org/mesh/D002601

[Term]
id: MONDO:0007026
name: obsolete non-alcoholic fatty liver
is_obsolete: true
replaced_by: MONDO:0013209

[Term]
id: MONDO:0007027
name: non-alcoholic steatohepatitis
def: "Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure." [NCIT:P378]
synonym: "nash - nonalcoholic Steatohepatitis" EXACT [NCIT:C84445]
synonym: "nonalcoholic Steatohepatitis" EXACT [NCIT:C84445]
xref: EFO:1001249 {source="MONDO:equivalentTo"}
xref: ICD10:K75.81 {source="EFO:1001249"}
xref: MedDRA:10053219 {source="EFO:1001249"}
xref: NCIT:C84445 {source="MONDO:equivalentTo", source="EFO:1001249"}
is_a: MONDO:0002251 {source="NCIT:C84445"} ! hepatitis
is_a: MONDO:0013209 {source="EFO:1001249", source="NCIT:C84445"} ! non-alcoholic fatty liver disease
property_value: closeMatch http://identifiers.org/meddra/10053219
property_value: closeMatch http://identifiers.org/snomedct/442191002
property_value: exactMatch NCIT:C84445

[Term]
id: MONDO:0007028
name: rotator cuff syndrome
def: "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." [EFO:1001250]
synonym: "rotator cuff tear" RELATED []
xref: EFO:1001250 {source="MONDO:equivalentTo"}
xref: https://en.wikipedia.org/wiki/Rotator_cuff_tear {source="EFO:1001250"}
xref: ICD10:M75.1 {source="MONDO:equivalentTo"}
xref: ICD9:726.10 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:4106009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
xref: UMLS:C0263912 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005218 {source="EFO:1001250"} ! muscular disease
property_value: exactMatch http://identifiers.org/snomedct/4106009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263912

[Term]
id: MONDO:0007029
name: branchio-oto-renal syndrome
def: "Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." [Orphanet:107]
comment: (from orpha.net)nSummarynnBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. {source="EFO:1001251"}
subset: ordo_malformation_syndrome {source="Orphanet:107"}
synonym: "bor syndrome" RELATED [Orphanet:107]
synonym: "Branchio oto renal syndrome" RELATED [GARD:0010147]
synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, MTH:NOCODE]
synonym: "Branchio-otorenal dysplasia" EXACT [DOID:14702]
synonym: "branchiootorenal dysplasia" EXACT [DOID:14702]
synonym: "branchiootorenal syndrome" EXACT [Orphanet:107]
synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702]
xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"}
xref: EFO:1001251 {source="MONDO:equivalentTo"}
xref: GARD:0010147 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:107", source="ORDO:107/attributed", source="ORDO:107/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071135 {source="ORDO:107/e", source="Orphanet:107"}
xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="ORDO:107/e", source="Orphanet:107", source="MONDO:equivalentTo"}
xref: NCIT:C98983 {source="DOID:14702", source="EFO:1001251", source="MONDO:kboom-pr-0.92/0.74/1.29", source="MONDO:equivalentTo"}
xref: Orphanet:107 {source="EFO:1001251", source="MONDO:equivalentTo"}
xref: SCTID:290006 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.75/2.20"}
xref: UMLS:C0265234 {source="DOID:14702", source="EFO:1001251", source="ORDO:107/e", source="Orphanet:107", source="MONDO:equivalentTo", source="NCIT:C98983"}
xref: UMLS:CN043574 {source="MONDO:equivalentTo"}
xref: Wikipedia:Branchio-oto-renal_syndrome {source="EFO:1001251"}
is_a: MONDO:0000426 {source="DOID:14702", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015334 {source="Orphanet:107"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015495 {source="Orphanet:107"} ! otomandibular dysplasia associated with monogenic syndromes
is_a: MONDO:0015501 {source="Orphanet:107"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:107"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:107"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/205806009
property_value: exactMatch DOID:14702
property_value: exactMatch http://identifiers.org/meddra/10071135
property_value: exactMatch http://identifiers.org/mesh/D019280
property_value: exactMatch http://identifiers.org/snomedct/290006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043574
property_value: exactMatch NCIT:C98983
property_value: exactMatch Orphanet:107

[Term]
id: MONDO:0007030
name: autosomal dominant Aarskog syndrome
comment: We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case)
synonym: "Aarskog syndrome" RELATED [DOID:6683]
synonym: "Aarskog syndrome, autosomal dominant" RELATED [OMIM:100050]
synonym: "Aarskog-Scott syndrome" EXACT [DOID:6683]
synonym: "faciogenital dysplasia" EXACT [DOID:6683]
synonym: "Greig's syndrome" EXACT EXCLUDE [DOID:6683]
xref: DOID:6683 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:6683"}
xref: OMIM:100050 {source="MONDO:equivalentTo", source="DOID:6683"}
is_a: MONDO:0000426 {source="DOID:6683"} ! autosomal dominant disease
is_a: MONDO:0021005 {source="MONDO:cjm"} ! faciodigitogenital syndrome
property_value: closeMatch http://identifiers.org/snomedct/205809002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149220
property_value: exactMatch DOID:6683
property_value: exactMatch http://identifiers.org/omim/100050

[Term]
id: MONDO:0007031
name: familial abdominal aortic aneurysm
def: "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:86"}
subset: prototype_pattern
synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070]
synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary]
xref: GARD:0009181 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I71.4 {source="Orphanet:86", source="ORDO:86/attributed", source="ORDO:86/ntbt"}
xref: OMIMPS:100070 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"}
xref: SCTID:715364001 {source="MONDO:kboom-pr-0.89/0.76/0.37", source="MONDO:equivalentTo"}
xref: UMLS:C4275172 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206207 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005350 {source="DC-OMIM:100070", source="MONDO:Redundant", source="MONDOLEX:0007031", source="linkedlifedata"} ! abdominal aortic aneurysm
intersection_of: MONDO:0005350 ! abdominal aortic aneurysm
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853365
property_value: exactMatch http://identifiers.org/snomedct/715364001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206207
property_value: exactMatch Orphanet:86

[Term]
id: MONDO:0007032
name: prune belly syndrome
def: "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." [Orphanet:2970]
subset: ordo_malformation_syndrome {source="Orphanet:2970"}
synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, Orphanet:2970]
synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [OMIM:100100]
synonym: "eagle-Barret syndrome" EXACT [DOID:0060889, Orphanet:2970]
synonym: "eagle-Barrett syndrome" RELATED [OMIM:100100]
synonym: "Obrinsky syndrome" EXACT [Orphanet:2970]
synonym: "Obrisnksy syndrome" EXACT [DOID:0060889]
synonym: "PBS" RELATED [MONDO:Lexical, OMIM:100100]
synonym: "prune belly syndrome" EXACT [MONDO:Lexical, OMIM:100100]
synonym: "prune belly syndrome; PBS" RELATED [OMIM:100100]
synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033]
synonym: "triad syndrome" EXACT [Orphanet:2970]
xref: DOID:0060889 {source="MONDO:equivalentTo"}
xref: GARD:0007479 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.4 {source="Orphanet:2970", source="DOID:0060889", source="ORDO:2970/attributed", source="ORDO:2970/ntbt"}
xref: ICD9:756.71 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10051025 {source="ORDO:2970/e", source="Orphanet:2970"}
xref: MESH:D011535 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:equivalentTo", source="DOID:0060889", source="MONDO:ontobio"}
xref: NCIT:C85033 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:100100 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:equivalentTo", source="DOID:0060889"}
xref: Orphanet:2970 {source="MONDO:equivalentTo", source="OMIM:100100", source="DOID:0060889"}
xref: SCTID:5187006 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
xref: UMLS:C0033770 {source="ORDO:2970/e", source="Orphanet:2970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:100100", source="NCIT:C85033"}
is_a: MONDO:0015620 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2970"} ! syndromic urogenital tract malformation
is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction
is_a: MONDO:0019721 ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0060889
property_value: exactMatch http://identifiers.org/meddra/10051025
property_value: exactMatch http://identifiers.org/mesh/C536477
property_value: exactMatch http://identifiers.org/mesh/D011535
property_value: exactMatch http://identifiers.org/omim/100100
property_value: exactMatch http://identifiers.org/snomedct/5187006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265363
property_value: exactMatch NCIT:C85033
property_value: exactMatch Orphanet:2970

[Term]
id: MONDO:0007033
name: abducens nerve palsy
def: "Paralysis of the abducens nerve." [NCIT:C27592]
synonym: "6th nerve palsy" RELATED [GARD:0009482]
synonym: "abducens nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
synonym: "abducens nerve disease" RELATED [DOID:10865]
synonym: "abducens nerve disorder" EXACT EXCLUDE [DOID:10865]
synonym: "abducens nerve weakness" EXACT [DOID:10865]
synonym: "abducens palsy" RELATED [OMIM:100200]
synonym: "abducent nerve paralysis" EXACT [NCIT:C27592]
synonym: "cranial mononeuropathy VI" RELATED [GARD:0009482]
synonym: "cranial nerve palsy of abducens nerve" EXACT [MONDO:design_pattern]
synonym: "cranial nerve VI palsy" RELATED [GARD:0009482]
synonym: "disorder of abducent nerve" EXACT [DOID:10865]
synonym: "lateral rectus muscle denervation paresis" EXACT [DOID:10865]
synonym: "lateral rectus muscle innervation disorder" EXACT [DOID:10865]
synonym: "sixth cranial nerve disorder" EXACT [DOID:10865]
synonym: "sixth cranial nerve disorder, NOS" RELATED EXCLUDE [DOID:10865]
synonym: "sixth cranial nerve palsy" RELATED [GARD:0009482]
synonym: "sixth nerve palsy" EXACT [DOID:10865, GARD:0009482]
synonym: "sixth nerve paralysis" EXACT [NCIT:C27592]
synonym: "sixth or abducens nerve palsy" EXACT [DOID:10865, ICD9CM_2006:378.54]
synonym: "VI nerve palsy" RELATED [GARD:0009482]
synonym: "VIth nerve disorder" EXACT [DOID:10865, NCIT:C27593]
synonym: "VIth nerve paralysis" EXACT [DOID:10865, NCIT:C27592]
xref: COHD:381572 {source="MONDO:equivalentTo"}
xref: DOID:10865 {source="MONDO:equivalentTo"}
xref: GARD:0009482 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:H49.2 {source="DOID:10865"}
xref: ICD9:378.54 {source="DOID:10865"}
xref: NCIT:C27592 {source="DOID:10865", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: OMIM:100200 {source="DOID:10865", source="MONDO:equivalentTo"}
xref: SCTID:398963001 {source="DOID:10865", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.54"}
is_a: MONDO:0002782 {source="DOID:10865", source="MONDO:Redundant", source="NCIT:C27592"} ! cranial nerve palsy
is_a: MONDO:0020594 ! abducens nerve disease
property_value: closeMatch http://identifiers.org/mesh/D020434
property_value: closeMatch http://identifiers.org/snomedct/14720007
property_value: closeMatch http://identifiers.org/snomedct/230533001
property_value: closeMatch http://identifiers.org/snomedct/398760006
property_value: closeMatch http://identifiers.org/snomedct/46587002
property_value: closeMatch http://identifiers.org/snomedct/4892003
property_value: closeMatch http://identifiers.org/snomedct/82373004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271355
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847523
property_value: exactMatch DOID:10865
property_value: exactMatch http://identifiers.org/omim/100200
property_value: exactMatch http://identifiers.org/snomedct/398963001
property_value: exactMatch NCIT:C27592

[Term]
id: MONDO:0007034
name: Adams-Oliver syndrome
def: "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." [Orphanet:974]
subset: gard_rare {source="GARD:0005739"}
subset: ordo_malformation_syndrome {source="Orphanet:974"}
synonym: "Adams Oliver syndrome" EXACT [DOID:0060227]
synonym: "AOS" EXACT [Orphanet:974]
synonym: "congenital scalp defects with distal limb anomalies" EXACT [Orphanet:974]
synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [Orphanet:974]
synonym: "limb scalp and skull defects" RELATED [GARD:0005739]
synonym: "limb, scalp and skull defects" EXACT [Orphanet:974]
xref: DOID:0060227 {source="MONDO:equivalentTo"}
xref: GARD:0005739 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:974", source="ORDO:974/attributed", source="ORDO:974/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="ORDO:974/e"}
xref: OMIMPS:100300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="MONDO:equivalentTo", source="OMIM:100300"}
xref: SCTID:34748004 {source="MONDO:equivalentTo", source="DOID:0060227", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265268 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:974", source="MONDO:equivalentTo", source="OMIM:100300", source="DOID:0060227", source="ORDO:974/e"}
is_a: MONDO:0017432 {source="Orphanet:974"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:974", source="Orphanet:974/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019294 {source="Orphanet:974"} ! mixed dermis disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0060227
property_value: exactMatch http://identifiers.org/mesh/C538225
property_value: exactMatch http://identifiers.org/snomedct/34748004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265268
property_value: exactMatch Orphanet:974
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome xsd:anyURI {source="GARD:0005739"}

[Term]
id: MONDO:0007035
name: acanthosis nigricans (disease)
def: "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." [NCIT:P378]
synonym: "acanthosis nigricans" EXACT [MONDO:ambiguous, OMIM:100600]
synonym: "an - acanthosis nigricans" EXACT [DOID:3138]
synonym: "keratosis nigricans" EXACT [CSP2005:2716-6089, DOID:3138, MTHICD9_2006:701.2]
xref: COHD:4299544 {source="MONDO:equivalentTo"}
xref: DOID:3138 {source="EFO:1000660", source="MONDO:equivalentTo"}
xref: EFO:1000660 {source="MONDO:equivalentTo"}
xref: HP:0000956 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L83 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: MESH:D000052 {source="MONDO:equivalentTo", source="DOID:3138", source="MONDO:ontobio"}
xref: NCIT:C26687 {source="MONDO:equivalentTo", source="DOID:3138", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: SCTID:402599005 {source="MONDO:equivalentTo", source="DOID:3138", source="MONDO:kboom-pr-0.91/0.82/0.12"}
xref: UMLS:C0000889 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C26687", source="DOID:3138", source="OMIM:100600"}
xref: Wikipedia:Acanthosis_nigricans {source="EFO:1000660"}
is_a: MONDO:0002406 {source="NCIT:C26687"} ! dermatitis
is_a: MONDO:0019288 ! skin pigmentation disease
property_value: closeMatch http://identifiers.org/snomedct/72129000
property_value: closeMatch Orphanet:924
property_value: exactMatch DOID:3138
property_value: exactMatch http://identifiers.org/mesh/D000052
property_value: exactMatch http://identifiers.org/snomedct/402599005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000889
property_value: exactMatch NCIT:C26687

[Term]
id: MONDO:0007036
name: Achard syndrome
def: "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." [NCIT:P378]
subset: gard_rare {source="GARD:0008176"}
synonym: "Achard syndrome" EXACT [OMIM:100700]
synonym: "arachnodactyly, receding lower jaw and joint laxity of hands/feet" RELATED [GARD:0008176]
xref: DOID:6686 {source="MONDO:equivalentTo"}
xref: GARD:0008176 {source="MONDO:equivalentTo"}
xref: MESH:C536012 {source="DOID:6686", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35809 {source="DOID:6686", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:100700 {source="DOID:6686", source="MONDO:equivalentTo"}
xref: UMLS:C1332135 {source="DOID:6686", source="NCIT:C35809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:100700"}
is_a: MONDO:0002254 {source="DOID:6686", source="MONDOLEX:0007036", source="NCIT:C35809"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch DOID:6686
property_value: exactMatch http://identifiers.org/mesh/C536012
property_value: exactMatch http://identifiers.org/omim/100700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332135
property_value: exactMatch NCIT:C35809
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome xsd:anyURI {source="GARD:0008176"}

[Term]
id: MONDO:0007037
name: achondroplasia
def: "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." [Orphanet:15]
subset: clingen
subset: gard_rare {source="GARD:0008173"}
subset: ordo_disease {source="Orphanet:15"}
synonym: "ach" RELATED [MONDO:Lexical, OMIM:100800]
synonym: "achondroplasia" EXACT [MONDO:Lexical, OMIM:100800]
synonym: "achondroplasia; ach" RELATED [OMIM:100800]
synonym: "achondroplastic dwarfism" RELATED [GARD:0008173]
synonym: "achondroplastic physique" EXACT [DOID:4480]
synonym: "chondrodystrophia" EXACT [DOID:4480, MTHICD9_2006:756.4]
synonym: "osteosclerosis congenita" EXACT [CSP2005:2715-2940, DOID:4480]
xref: COHD:4311402 {source="MONDO:equivalentTo"}
xref: DOID:4480 {source="MONDO:equivalentTo"}
xref: GARD:0008173 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.4 {source="ORDO:15/specific", source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"}
xref: MedDRA:10000452 {source="ORDO:15/e", source="Orphanet:15"}
xref: MESH:D000130 {source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"}
xref: NCIT:C34345 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4480"}
xref: OMIM:100800 {source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"}
xref: Orphanet:15 {source="MONDO:equivalentTo", source="OMIM:100800"}
xref: SCTID:86268005 {source="MONDO:equivalentTo", source="DOID:4480", source="MONDO:kboom-pr-1.00/0.79/8.07"}
xref: UMLS:C0001080 {source="ORDO:15/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:15", source="NCIT:C34345", source="DOID:4480", source="OMIM:100800"}
is_a: MONDO:0005516 {source="DOID:4480", source="MESH:D000130"} ! osteochondrodysplasia
is_a: MONDO:0018232 {source="Orphanet:15"} ! primary bone dysplasia with micromelia
is_a: MONDO:0019685 {source="Orphanet:15"} ! FGFR3-related chondrodysplasia
property_value: closeMatch http://identifiers.org/snomedct/190584003
property_value: closeMatch http://identifiers.org/snomedct/205467007
property_value: closeMatch http://identifiers.org/snomedct/248299001
property_value: closeMatch http://identifiers.org/snomedct/268273004
property_value: closeMatch http://identifiers.org/snomedct/268350005
property_value: exactMatch DOID:4480
property_value: exactMatch http://identifiers.org/meddra/10000452
property_value: exactMatch http://identifiers.org/mesh/D000130
property_value: exactMatch http://identifiers.org/omim/100800
property_value: exactMatch http://identifiers.org/snomedct/86268005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001080
property_value: exactMatch NCIT:C34345
property_value: exactMatch Orphanet:15
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8173/achondroplasia xsd:anyURI {source="GARD:0008173"}

[Term]
id: MONDO:0007038
name: Achoo syndrome
synonym: "Achoo syndrome" EXACT [GARD:0010036, OMIM:100820]
synonym: "autosomal dominant compelling helio ophthalmic outburst syndrome" RELATED [GARD:0010036]
synonym: "autosomal dominant compelling Helioophthalmic outburst syndrome" RELATED [OMIM:100820]
synonym: "Peroutka sneeze" RELATED [OMIM:100820]
synonym: "photic sneeze reflex" RELATED [OMIM:100820]
synonym: "sneezing from Light exposure" RELATED [OMIM:100820]
xref: EFO:0007887 {source="MONDO:equivalentTo"}
xref: GARD:0010036 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535300 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:100820 {source="MONDO:equivalentTo"}
xref: UMLS:C1863416 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:100820"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535300
property_value: exactMatch http://identifiers.org/omim/100820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863416

[Term]
id: MONDO:0007039
name: neurofibromatosis type 2
def: "Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." [Orphanet:637]
subset: clingen
subset: ordo_disease {source="Orphanet:637"}
synonym: "acoustic neurinoma bilateral" RELATED [GARD:0007193]
synonym: "acoustic neurinoma, bilateral" RELATED [OMIM:101000]
synonym: "acoustic neurofibromatosis" EXACT [NCIT:C3274]
synonym: "acoustic schwannomas bilateral" RELATED [GARD:0007193]
synonym: "acoustic Schwannomas, bilateral" RELATED [OMIM:101000]
synonym: "bilateral acoustic neurofibromatosis" EXACT [NCIT:C3274, OMIM:101000, Orphanet:637]
synonym: "central neurofibromatosis" EXACT [NCIT:C3274, Orphanet:637]
synonym: "neurofibromatosis 2" EXACT [NCIT:C3274]
synonym: "neurofibromatosis central type" RELATED [GARD:0007193]
synonym: "neurofibromatosis type 2" EXACT [NCIT:C3274]
synonym: "neurofibromatosis type II" RELATED [GARD:0007193]
synonym: "neurofibromatosis, central type" RELATED [OMIM:101000]
synonym: "neurofibromatosis, type 2" RELATED [OMIM:101000]
synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000]
synonym: "neurofibromatosis, type II; NF2" RELATED [OMIM:101000]
synonym: "NF2" EXACT [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637]
xref: COHD:380975 {source="MONDO:equivalentTo"}
xref: GARD:0007193 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q85.0 {source="Orphanet:637", source="ORDO:637/attributed", source="ORDO:637/ntbt"}
xref: ICD10:Q85.02 {source="MONDO:equivalentTo"}
xref: ICD9:237.72 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10000523 {source="ORDO:637/e", source="Orphanet:637"}
xref: MedDRA:10029271 {source="ORDO:637/e", source="Orphanet:637"}
xref: NCIT:C3274 {source="MONDO:equivalentTo"}
xref: OMIM:101000 {source="ORDO:637/e", source="MONDO:equivalentTo", source="Orphanet:637"}
xref: Orphanet:637 {source="OMIM:101000", source="MONDO:equivalentTo"}
xref: SCTID:92503002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027832 {source="ORDO:637/e", source="OMIM:101000", source="NCBI:mim2gene_medline", source="NCIT:C3274", source="MONDO:equivalentTo", source="Orphanet:637"}
is_a: MONDO:0019589 {source="Orphanet:637"} ! syndromic genetic deafness
is_a: MONDO:0021061 {source="NCIT:C3274", source="linkedlifedata"} ! neurofibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136041
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136042
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136043
property_value: exactMatch http://identifiers.org/meddra/10000523
property_value: exactMatch http://identifiers.org/meddra/10029271
property_value: exactMatch http://identifiers.org/mesh/D009464
property_value: exactMatch http://identifiers.org/mesh/D016518
property_value: exactMatch http://identifiers.org/omim/101000
property_value: exactMatch http://identifiers.org/snomedct/92503002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027859
property_value: exactMatch NCIT:C3274
property_value: exactMatch Orphanet:637

[Term]
id: MONDO:0007040
name: Sakati-Nyhan syndrome
def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [DOID:0060359, https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome]
subset: gard_rare
synonym: "ACPS 3" RELATED [GARD:0000115, OMIM:101120]
synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359]
synonym: "ACPS3" RELATED [GARD:0000115]
synonym: "acrocephalopolysyndactyly type 3" EXACT [DOID:0060359]
synonym: "acrocephalopolysyndactyly type 3" RELATED [GARD:0000115]
synonym: "acrocephalopolysyndactyly type III" EXACT [DOID:0060359]
synonym: "acrocephalopolysyndactyly type III" RELATED [OMIM:101120]
synonym: "Sakati syndrome" RELATED [GARD:0000115]
synonym: "Sakati-Nyhan syndrome" EXACT [GARD:0000115, OMIM:101120]
synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [DOID:0060359]
xref: DOID:0060359 {source="MONDO:equivalentTo"}
xref: GARD:0000115 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0060359"}
xref: MESH:C537227 {source="MONDO:equivalentTo", source="DOID:0060359", source="MONDO:ontobio"}
xref: OMIM:101120 {source="MONDO:equivalentTo", source="GARD:0000115", source="DOID:0060359"}
xref: Orphanet:3128 {source="MONDO:equivalentToObsolete", source="OMIM:101120", source="GARD:0000115", source="DOID:0060359"}
xref: SCTID:403768004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275079 {source="NCBI:mim2gene_medline", source="OMIM:101120", source="MONDO:equivalentTo"}
is_a: MONDO:0000078 {source="DC-OMIM:101120", source="https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome", source="linkedlifedata", source="linkedlifedata/inferred"} ! acrocephalopolysyndactyly
property_value: exactMatch DOID:0060359
property_value: exactMatch http://identifiers.org/mesh/C537227
property_value: exactMatch http://identifiers.org/omim/101120
property_value: exactMatch http://identifiers.org/snomedct/403768004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275079
property_value: exactMatch Orphanet:3128

[Term]
id: MONDO:0007041
name: apert syndrome
def: "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly." [Orphanet:87]
subset: ordo_malformation_syndrome {source="Orphanet:87"}
synonym: "acrocephalo-syndactyly type 1" RELATED [GARD:0005833]
synonym: "acrocephalosyndactyly type 1" EXACT [Orphanet:87]
synonym: "acrocephalosyndactyly type I" EXACT [NCIT:C99099]
synonym: "acrocephalosyndactyly, type 1" RELATED [OMIM:101200]
synonym: "acrocephalosyndactyly, type 2" RELATED [OMIM:101200]
synonym: "ACS 1" RELATED [OMIM:101200]
synonym: "ACS 2" RELATED [OMIM:101200]
synonym: "ACS1" EXACT [Orphanet:87]
synonym: "apert syndrome" EXACT [OMIM:101200]
synonym: "apert-Crouzon disease" RELATED [OMIM:101200]
synonym: "syndactylic oxycephaly" RELATED [GARD:0005833]
synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099]
synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200]
xref: GARD:0005833 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:87", source="ORDO:87/inclusion", source="ORDO:87/ntbt"}
xref: MedDRA:10002943 {source="Orphanet:87", source="ORDO:87/e"}
xref: MESH:D000168 {source="Orphanet:87", source="ORDO:87/e", source="MONDO:equivalentTo"}
xref: NCIT:C99099 {source="MONDO:equivalentTo"}
xref: OMIM:101200 {source="Orphanet:87", source="ORDO:87/e", source="MONDO:equivalentTo"}
xref: Orphanet:87 {source="MONDO:equivalentTo", source="OMIM:101200"}
xref: SCTID:205258009 {source="MONDO:kboom-pr-0.77/0.41/0.59", source="MONDO:equivalentTo"}
xref: UMLS:C0001193 {source="Orphanet:87", source="ORDO:87/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101200", source="NCIT:C99099"}
is_a: MONDO:0015322 {source="Orphanet:87"} ! Pierre Robin syndrome associated with bone disease
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019796 {source="NCIT:C99099", source="Orphanet:87", source="linkedlifedata"} ! acrocephalosyndactyly
is_a: MONDO:0020254 {source="Orphanet:87"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863389
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863390
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863391
property_value: exactMatch http://identifiers.org/meddra/10002943
property_value: exactMatch http://identifiers.org/mesh/D000168
property_value: exactMatch http://identifiers.org/omim/101200
property_value: exactMatch http://identifiers.org/snomedct/205258009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001193
property_value: exactMatch NCIT:C99099
property_value: exactMatch Orphanet:87

[Term]
id: MONDO:0007042
name: Saethre-Chotzen syndrome
def: "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." [Orphanet:794]
subset: gard_rare {source="GARD:0007598"}
subset: ordo_malformation_syndrome {source="Orphanet:794"}
synonym: "acrocephalo-syndactyly, type 3" RELATED [GARD:0007598]
synonym: "acrocephalosyndactyly type 3" EXACT [Orphanet:794]
synonym: "acrocephalosyndactyly type III" RELATED [DOID:14768]
synonym: "acrocephalosyndactyly, type 3" RELATED [OMIM:101400]
synonym: "acrocephaly, skull asymmetry, and mild syndactyly" RELATED [OMIM:101400]
synonym: "ACS 3" RELATED [OMIM:101400]
synonym: "ACS3" EXACT [Orphanet:794]
synonym: "blepharophimosis, epicanthus inversus, and ptosis 3" RELATED DEPRECATED [OMIM:101400]
synonym: "blepharophimosis, epicanthus inversus, and ptosis 3, formerly" RELATED DEPRECATED [OMIM:101400]
synonym: "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)" RELATED DEPRECATED [GARD:0007598]
synonym: "Chotzen syndrome" RELATED [OMIM:101400]
synonym: "Saethre-Chotzen syndrome" EXACT [MONDO:Lexical, OMIM:101400]
synonym: "Saethre-Chotzen syndrome with eyelid anomalies" RELATED [OMIM:101400]
synonym: "Saethre-Chotzen syndrome; SCS" RELATED [OMIM:101400]
synonym: "SCS" EXACT [MONDO:Lexical, OMIM:101400, Orphanet:794]
synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034]
xref: DOID:14768 {source="MONDO:equivalentTo"}
xref: EFO:0007029 {source="MONDO:equivalentTo"}
xref: GARD:0007598 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:794/attributed", source="ORDO:794/ntbt", source="Orphanet:794"}
xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:101400 {source="DOID:14768", source="MONDO:equivalentTo", source="ORDO:794/e", source="Orphanet:794"}
xref: Orphanet:794 {source="MONDO:equivalentTo", source="OMIM:101400"}
xref: SCTID:83015004 {source="DOID:14768", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0175699 {source="DOID:14768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75034", source="OMIM:101400", source="ORDO:794/e", source="Orphanet:794"}
is_a: MONDO:0015945 {source="Orphanet:794"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019796 {source="DOID:14768", source="NCIT:C75034", source="Orphanet:794", source="linkedlifedata"} ! acrocephalosyndactyly
is_a: MONDO:0020169 {source="Orphanet:794"} ! rare disorder with ptosis
is_a: MONDO:0020254 {source="Orphanet:794"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://identifiers.org/snomedct/390726000
property_value: closeMatch http://identifiers.org/snomedct/390746005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863370
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863371
property_value: exactMatch DOID:14768
property_value: exactMatch http://identifiers.org/omim/101400
property_value: exactMatch http://identifiers.org/snomedct/83015004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175699
property_value: exactMatch NCIT:C75034
property_value: exactMatch Orphanet:794
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome xsd:anyURI {source="GARD:0007598"}

[Term]
id: MONDO:0007043
name: Pfeiffer syndrome
def: "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." [Orphanet:710]
subset: gard_rare {source="GARD:0007380"}
subset: ordo_malformation_syndrome {source="Orphanet:710"}
synonym: "acrocephalosyndactylia type V" EXACT [DOID:14705]
synonym: "acrocephalosyndactyly type 5" EXACT [Orphanet:710]
synonym: "acrocephalosyndactyly type V" EXACT [NCIT:C99100]
synonym: "acrocephalosyndactyly, type 5" RELATED [OMIM:101600]
synonym: "ACS 5" RELATED [OMIM:101600]
synonym: "ACS5" EXACT [Orphanet:710]
synonym: "craniofacial-skeletal-Dermatologic dysplasia" RELATED [OMIM:101600]
synonym: "Noack syndrome" RELATED [https://en.wikipedia.org/wiki/Acrocephalosyndactylia, OMIM:101600]
synonym: "Pfeiffer syndrome" EXACT [OMIM:101600]
synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380]
synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100]
xref: DOID:14705 {source="MONDO:equivalentTo"}
xref: GARD:0007380 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:710", source="ORDO:710/attributed", source="ORDO:710/ntbt"}
xref: NCIT:C99100 {source="DOID:14705", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:101600 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="ORDO:710/e"}
xref: Orphanet:710 {source="MONDO:equivalentTo", source="OMIM:101600"}
xref: SCTID:70410008 {source="DOID:14705", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.23"}
xref: UMLS:C0220658 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="NCIT:C99100", source="OMIM:101600"}
is_a: MONDO:0000078 {source="https://en.wikipedia.org/wiki/Acrocephalosyndactylia"} ! acrocephalopolysyndactyly
is_a: MONDO:0020254 {source="Orphanet:710"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265303
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863356
property_value: exactMatch DOID:14705
property_value: exactMatch http://identifiers.org/mesh/C538582
property_value: exactMatch http://identifiers.org/omim/101600
property_value: exactMatch http://identifiers.org/snomedct/70410008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931888
property_value: exactMatch NCIT:C99100
property_value: exactMatch Orphanet:710
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome xsd:anyURI {source="GARD:0007380"}

[Term]
id: MONDO:0007044
name: acrodysostosis 1 with or without hormone resistance
def: "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." [NCIT:C136464]
synonym: "ACRDYS1" RELATED [MONDO:Lexical, OMIM:101800]
synonym: "acrodysostosis 1" EXACT [NCIT:C136464]
synonym: "acrodysostosis 1 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:101800]
synonym: "acrodysostosis 1 with or without hormone resistance; ACRDYS1" RELATED [OMIM:101800]
synonym: "ADOHR" RELATED [OMIM:101800]
xref: NCIT:C136464 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: OMIM:101800 {source="MONDO:equivalentTo"}
xref: UMLS:C3276228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101800"}
is_a: MONDO:0017240 {source="ORDO:280651/btnt"} ! acrodysostosis with multiple hormone resistance
is_a: MONDO:0019797 {source="DC-OMIM:101800", source="OMIM:101800"} ! acrodysostosis
property_value: exactMatch http://identifiers.org/omim/101800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276228
property_value: exactMatch NCIT:C136464

[Term]
id: MONDO:0007045
name: acrofacial dysostosis, Catania type
def: "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis (see this term) characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." [Orphanet:1786]
subset: ordo_malformation_syndrome {source="Orphanet:1786"}
synonym: "acrofacial dysostosis Catania type" RELATED [GARD:0000494]
synonym: "acrofacial dysostosis, Catania type" EXACT [OMIM:101805]
synonym: "AFD Catania type" RELATED [GARD:0000494]
synonym: "Afd, Catania type" RELATED [OMIM:101805]
synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384]
synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786]
xref: DOID:0060384 {source="MONDO:equivalentTo"}
xref: GARD:0000494 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.4 {source="ORDO:1786/attributed", source="ORDO:1786/ntbt", source="Orphanet:1786"}
xref: MESH:C538182 {source="DOID:0060384", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786", source="MONDO:ontobio"}
xref: OMIM:101805 {source="DOID:0060384", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786"}
xref: Orphanet:1786 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo"}
xref: SCTID:720419000 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C2931762 {source="DOID:0060384", source="OMIM:101805", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1786", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1786"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:1786"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="DC-OMIM:101805", source="DOID:0060384", source="Orphanet:1786"} ! acrofacial dysostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796243
property_value: exactMatch DOID:0060384
property_value: exactMatch http://identifiers.org/mesh/C538182
property_value: exactMatch http://identifiers.org/omim/101805
property_value: exactMatch http://identifiers.org/snomedct/720419000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931762
property_value: exactMatch Orphanet:1786

[Term]
id: MONDO:0007046
name: hereditary papulotranslucent acrokeratoderma
def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [EFO:1000708]
synonym: "acrokeratoderma, hereditary papulotranslucent" RELATED [OMIM:101840]
xref: DOID:0060360 {source="EFO:1000708", source="MONDO:equivalentTo"}
xref: EFO:1000708 {source="MONDO:equivalentTo"}
xref: MESH:C566323 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060360"}
xref: OMIM:101840 {source="MONDO:equivalentTo", source="DOID:0060360"}
xref: UMLS:C1863343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101840"}
is_a: MONDO:0006566 {source="DOID:0060360/inferred", source="MESH:C566323"} ! keratosis
is_a: MONDO:0024255 ! genetic skin disease
relationship: excluded_subClassOf MONDO:0006530 {source="DOID:0060360"} ! cholesteatoma (disease)
property_value: exactMatch DOID:0060360
property_value: exactMatch http://identifiers.org/mesh/C566323
property_value: exactMatch http://identifiers.org/omim/101840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863343

[Term]
id: MONDO:0007047
name: punctate palmoplantar keratoderma type III
def: "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" [Orphanet:38]
comment: Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3
subset: ordo_disease {source="Orphanet:38"}
synonym: "acrokeratoelastoidosis" RELATED [OMIM:101850]
synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362]
synonym: "aganglionosis, total colonic" RELATED [GARD:0000133]
synonym: "ake" EXACT [Orphanet:38]
synonym: "collagenous plaques of hand and feet" RELATED [GARD:0000125]
synonym: "collagenous plaques of hands and feet" RELATED [OMIM:101850]
synonym: "near-total intestinal aganglionosis" RELATED [GARD:0000133]
synonym: "NTIA" RELATED [GARD:0000133]
synonym: "palmoplantar keratoderma, punctate type 3" RELATED [GARD:0000125]
synonym: "palmoplantar keratoderma, punctate type III" RELATED [MONDO:Lexical, OMIM:101850]
synonym: "palmoplantar keratoderma, punctate type III; PPKP3" RELATED [OMIM:101850]
synonym: "PPKP3" EXACT [MONDO:Lexical, OMIM:101850, Orphanet:38]
synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [DOID:0060362, Orphanet:38]
synonym: "punctate palmoplantar keratoderma type 3" EXACT [DOID:0060362, Orphanet:38]
synonym: "rare form of Hirschsprung's disease" RELATED [GARD:0000133]
synonym: "TIA" RELATED [GARD:0000133]
xref: DOID:0060362 {source="MONDO:equivalentTo", source="EFO:1000758"}
xref: EFO:1000758 {source="MONDO:equivalentTo"}
xref: GARD:0000125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0000133 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:38/attributed", source="ORDO:38/ntbt", source="Orphanet:38"}
xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e", source="MONDO:ontobio"}
xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e"}
xref: Orphanet:38 {source="DOID:0060362", source="MONDO:equivalentTo", source="OMIM:101850"}
xref: UMLS:C0545044 {source="DOID:0060362", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e", source="OMIM:101850"}
is_a: MONDO:0017676 {source="Orphanet:38"} ! marginal papular palmoplantar keratoderma
is_a: MONDO:0019271 {source="Orphanet:38"} ! acrokeratoderma
is_a: MONDO:0019292 {source="MONDO:cjm", source="Orphanet:38/inferred", source="https://github.com/Orphanet/ORDO/issues/3"} ! dermis elastic tissue disorder
relationship: excluded_subClassOf MONDO:0016436 {source="Orphanet:38", source="https://github.com/Orphanet/ORDO/issues/3"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: closeMatch http://identifiers.org/snomedct/111029001
property_value: closeMatch Orphanet:99740
property_value: exactMatch DOID:0060362
property_value: exactMatch http://identifiers.org/mesh/C535653
property_value: exactMatch http://identifiers.org/omim/101850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0545044
property_value: exactMatch Orphanet:38

[Term]
id: MONDO:0007048
name: acrokeratosis verruciformis
def: "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." [NCIT:C27519]
subset: ordo_disease {source="Orphanet:79151"}
synonym: "acrokeratosis verruciformis" EXACT [MONDO:Lexical, OMIM:101900]
synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606]
synonym: "acrokeratosis verruciformis; AKV" RELATED [OMIM:101900]
synonym: "AKV" RELATED [MONDO:Lexical, OMIM:101900]
synonym: "AKV of Hopf" EXACT [Orphanet:79151]
synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900]
xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"}
xref: EFO:1000666 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:79151/attributed", source="ORDO:79151/ntbt", source="Orphanet:79151"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069445 {source="ORDO:79151/e", source="Orphanet:79151"}
xref: NCIT:C27519 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:101900 {source="ORDO:79151/e", source="MONDO:equivalentTo", source="Orphanet:79151", source="DOID:0050606"}
xref: Orphanet:79151 {source="MONDO:equivalentTo", source="OMIM:101900"}
xref: SCTID:400085009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265971 {source="NCBI:mim2gene_medline", source="ORDO:79151/e", source="MONDO:equivalentTo", source="Orphanet:79151", source="NCIT:C27519", source="OMIM:101900"}
is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666", source="linkedlifedata", source="linkedlifedata/inferred"} ! keratosis
is_a: MONDO:0019271 {source="Orphanet:79151"} ! acrokeratoderma
property_value: exactMatch DOID:0050606
property_value: exactMatch http://identifiers.org/meddra/10069445
property_value: exactMatch http://identifiers.org/omim/101900
property_value: exactMatch http://identifiers.org/snomedct/400085009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265971
property_value: exactMatch NCIT:C27519
property_value: exactMatch Orphanet:79151

[Term]
id: MONDO:0007049
name: acroleukopathy, symmetric
synonym: "acroleukopathy, symmetric" EXACT [OMIM:102000]
xref: MESH:C566322 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863342 {source="NCBI:mim2gene_medline", source="OMIM:102000", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566322
property_value: exactMatch http://identifiers.org/omim/102000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863342

[Term]
id: MONDO:0007050
name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma
subset: gard_rare {source="GARD:0000500"}
synonym: "acromegaloid changes, cutis verticis gyrata and corneal leukoma" RELATED [GARD:0000500]
synonym: "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" EXACT [OMIM:102100]
synonym: "acromegaly-cutis verticis gyrata-corneal leukoma syndrome" EXACT [Orphanet:964]
synonym: "Rosenthal-Kloepfer syndrome" RELATED [OMIM:102100]
xref: GARD:0000500 {source="MONDO:equivalentTo"}
xref: MESH:C535654 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102100 {source="MONDO:equivalentTo"}
xref: Orphanet:964 {source="OMIM:102100", source="MONDO:equivalentTo"}
xref: UMLS:CN225973 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1321495
property_value: exactMatch http://identifiers.org/mesh/C535654
property_value: exactMatch http://identifiers.org/omim/102100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225973
property_value: exactMatch Orphanet:964
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma xsd:anyURI {source="GARD:0000500"}

[Term]
id: MONDO:0007051
name: acromegaloid facial appearance syndrome
def: "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms)." [Orphanet:965]
subset: gard_rare {source="GARD:0000501"}
subset: ordo_malformation_syndrome {source="Orphanet:965"}
synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150]
synonym: "AFA syndrome" RELATED [OMIM:102150]
synonym: "thick lips and oral mucosa" RELATED [OMIM:102150]
xref: GARD:0000501 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:965/e", source="ORDO:965/specific", source="Orphanet:965"}
xref: MESH:C535655 {source="ORDO:965/e", source="Orphanet:965", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102150 {source="ORDO:965/e", source="Orphanet:965", source="MONDO:equivalentTo"}
xref: Orphanet:965 {source="OMIM:102150", source="MONDO:equivalentTo"}
xref: SCTID:720456009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0796280 {source="ORDO:965/e", source="OMIM:102150", source="NCBI:mim2gene_medline", source="Orphanet:965", source="MONDO:equivalentTo"}
is_a: MONDO:0043007 {source="Orphanet:965"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C535655
property_value: exactMatch http://identifiers.org/omim/102150
property_value: exactMatch http://identifiers.org/snomedct/720456009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796280
property_value: exactMatch Orphanet:965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome xsd:anyURI {source="GARD:0000501"}

[Term]
id: MONDO:0007052
name: growth hormone secreting pituitary adenoma 1
comment: Editor note: consider splitting OMIM
synonym: "acromegaly due to pituitary adenoma 1" RELATED [OMIM:102200]
synonym: "familial isolated pituitary adenoma syndrome" RELATED [GARD:0010959]
synonym: "isolated familial somatotropinoma" RELATED [OMIM:102200]
synonym: "PAGH1" RELATED [MONDO:Lexical, OMIM:102200]
synonym: "PITA1" RELATED [OMIM:102200]
synonym: "pituitary adenoma 1, multiple types" RELATED [OMIM:102200]
synonym: "pituitary adenoma 1, multiple types; PITA1" RELATED [OMIM:102200]
synonym: "pituitary adenoma predisposition" RELATED [OMIM:102200]
synonym: "pituitary adenoma, familial isolated" RELATED [OMIM:102200]
synonym: "pituitary adenoma, growth hormone-secreting, 1" RELATED [MONDO:Lexical, OMIM:102200]
synonym: "pituitary adenoma, growth hormone-secreting, 1; PAGH1" RELATED [OMIM:102200]
synonym: "pituitary adenoma, growth hormone-secreting, type 1" EXACT [MONDORULE:1, OMIM:102200]
synonym: "Somatotrophinoma, familial" RELATED [OMIM:102200]
synonym: "somatotropinoma, familial isolated" RELATED [OMIM:102200]
xref: GARD:0010959 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:102200 {source="MONDO:equivalentTo", source="DOID:6255"}
is_a: MONDO:0006238 ! growth hormone-producing pituitary gland adenoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346302
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863340
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676191
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676192
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489630
property_value: exactMatch http://identifiers.org/omim/102200

[Term]
id: MONDO:0007053
name: restless legs syndrome 1
subset: predisposition
synonym: "acromelalgia, hereditary" RELATED [OMIM:102300]
synonym: "Ekbom syndrome" RELATED [OMIM:102300]
synonym: "restless legs syndrome, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:102300]
synonym: "restless legs syndrome, susceptibility to, 1; RLS1" RELATED [OMIM:102300]
synonym: "RLS1" RELATED [MONDO:Lexical, OMIM:102300]
xref: GARD:0009709 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538443 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102300 {source="MONDO:equivalentTo"}
xref: UMLS:C3888109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:102300", source="MESH:C538443", source="MONDOLEX:0007053", source="OMIM:102300"} ! restless legs syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876177
property_value: exactMatch http://identifiers.org/mesh/C538443
property_value: exactMatch http://identifiers.org/omim/102300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888109

[Term]
id: MONDO:0007054
name: acromial dimples
synonym: "acromial dimples" EXACT [OMIM:102350]
synonym: "supraspinous fossae, congenital" RELATED [OMIM:102350]
xref: OMIM:102350 {source="MONDO:equivalentTo"}
xref: UMLS:C1863321 {source="OMIM:102350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/102350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863321

[Term]
id: MONDO:0007055
name: acromicric dysplasia
def: "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." [Orphanet:969]
subset: gard_rare {source="GARD:0000007"}
subset: ordo_malformation_syndrome {source="Orphanet:969"}
synonym: "ACMICD" RELATED [MONDO:Lexical, OMIM:102370]
synonym: "acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370]
synonym: "acromicric dysplasia; ACMICD" RELATED [OMIM:102370]
synonym: "acromicric skeletal dysplasia" RELATED [GARD:0000007]
xref: GARD:0000007 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:969/attributed", source="ORDO:969/ntbt", source="Orphanet:969"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535662 {source="ORDO:969/e", source="MONDO:equivalentTo", source="Orphanet:969"}
xref: OMIM:102370 {source="ORDO:969/e", source="MONDO:equivalentTo", source="Orphanet:969"}
xref: Orphanet:969 {source="OMIM:102370", source="MONDO:equivalentTo"}
xref: SCTID:254090007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0019695 {source="Orphanet:969"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535662
property_value: exactMatch http://identifiers.org/omim/102370
property_value: exactMatch http://identifiers.org/snomedct/254090007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265287
property_value: exactMatch Orphanet:969
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia xsd:anyURI {source="GARD:0000007"}

[Term]
id: MONDO:0007056
name: acroosteolysis
def: "A condition that is characterized by degeneration of the distal phalanges." [NCIT:C35545]
synonym: "acroosteolysis" EXACT [OMIM:102400]
xref: MESH:D030981 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35545 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:102400 {source="MONDO:equivalentTo"}
xref: SCTID:27201004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0019707 {source="Orphanet:955"} ! primary osteolysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0917990
property_value: exactMatch http://identifiers.org/mesh/D030981
property_value: exactMatch http://identifiers.org/omim/102400
property_value: exactMatch http://identifiers.org/snomedct/27201004
property_value: exactMatch NCIT:C35545

[Term]
id: MONDO:0007057
name: acroosteolysis dominant type
def: "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." [Orphanet:955]
subset: gard_rare {source="GARD:0000508"}
subset: ordo_malformation_syndrome {source="Orphanet:955"}
synonym: "acrodentoosteodysplasia" EXACT [Orphanet:955]
synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [Orphanet:955]
synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" RELATED [OMIM:102500]
synonym: "Arthrodentoosteodysplasia" EXACT [Orphanet:955]
synonym: "Cheney syndrome" EXACT [OMIM:102500, Orphanet:955]
synonym: "Hajdu-Cheney syndrome" EXACT [MONDO:Lexical, OMIM:102500, Orphanet:955]
synonym: "Hajdu-Cheney syndrome; HJCYS" RELATED [OMIM:102500]
synonym: "HJCYS" RELATED [MONDO:Lexical, OMIM:102500]
synonym: "serpentine fibula-polycystic kidney syndrome" RELATED [OMIM:102500]
synonym: "serpentine fibula-polycystic kidneys syndrome" RELATED [GARD:0000508]
xref: DOID:2736 {source="MONDO:equivalentTo"}
xref: GARD:0000508 {source="MONDO:equivalentTo"}
xref: ICD10:M89.5 {source="Orphanet:955", source="ORDO:955/attributed", source="ORDO:955/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535663 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo"}
xref: NCIT:C84745 {source="MONDO:equivalentTo", source="DOID:2736", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: OMIM:102500 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo", source="DOID:2736"}
xref: Orphanet:955 {source="MONDO:equivalentTo", source="OMIM:102500"}
xref: SCTID:63122002 {source="MONDO:equivalentTo", source="DOID:2736", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0917715 {source="NCIT:C84745", source="ORDO:955/e", source="Orphanet:955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102500", source="DOID:2736"}
xref: UMLS:C2930971 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:2736", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005554 {source="Orphanet:955"} ! rheumatologic disorder
is_a: MONDO:0007056 {source="MESH:C535663", source="MONDO:kboom", source="linkedlifedata"} ! acroosteolysis
is_a: MONDO:0019721 {source="Orphanet:955"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0917990
property_value: exactMatch DOID:2736
property_value: exactMatch http://identifiers.org/mesh/C531695
property_value: exactMatch http://identifiers.org/mesh/C535663
property_value: exactMatch http://identifiers.org/mesh/D031845
property_value: exactMatch http://identifiers.org/omim/102500
property_value: exactMatch http://identifiers.org/snomedct/63122002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930971
property_value: exactMatch NCIT:C84745
property_value: exactMatch Orphanet:955
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type xsd:anyURI {source="GARD:0000508"}

[Term]
id: MONDO:0007058
name: acropectorovertebral dysplasia
def: "Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." [Orphanet:957]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:957"}
synonym: "acropectorovertebral dysplasia" EXACT [GARD:0000512, MONDO:Lexical, OMIM:102510]
synonym: "acropectorovertebral dysplasia F form" RELATED [GARD:0000512]
synonym: "acropectorovertebral dysplasia; ACRPV" RELATED [OMIM:102510]
synonym: "ACRPV" RELATED [GARD:0000512, MONDO:Lexical, OMIM:102510]
synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957]
xref: GARD:0000512 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="ORDO:957/attributed", source="ORDO:957/ntbt", source="Orphanet:957"}
xref: MESH:C566319 {source="MONDO:equivalentTo"}
xref: OMIM:102510 {source="ORDO:957/e", source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957"}
xref: Orphanet:957 {source="GARD:0000512", source="MONDO:equivalentTo", source="OMIM:102510"}
xref: SCTID:720457000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1863307 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="OMIM:102510"}
is_a: MONDO:0015929 {source="Orphanet:957"} ! thoracic malformation
is_a: MONDO:0017434 {source="Orphanet:957"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C566319
property_value: exactMatch http://identifiers.org/omim/102510
property_value: exactMatch http://identifiers.org/snomedct/720457000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863307
property_value: exactMatch Orphanet:957
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form xsd:anyURI {source="GARD:0000512"}

[Term]
id: MONDO:0007059
name: acrorenal syndrome
def: "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." [Orphanet:971]
subset: ordo_malformation_syndrome {source="Orphanet:971"}
synonym: "acrorenal syndrome" EXACT [OMIM:102520]
xref: DOID:0060347 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:971/attributed", source="ORDO:971/ntbt", source="Orphanet:971"}
xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102520 {source="DOID:0060347", source="MONDO:equivalentTo", source="ORDO:971/e", source="Orphanet:971"}
xref: Orphanet:971 {source="MONDO:equivalentTo", source="OMIM:102520"}
xref: SCTID:720458005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C3495490 {source="DOID:0060347", source="MONDO:equivalentTo", source="OMIM:102520", source="Orphanet:971"}
xref: UMLS:CN206860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019721 {source="Orphanet:971"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="Orphanet:971"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060347
property_value: exactMatch http://identifiers.org/mesh/C563159
property_value: exactMatch http://identifiers.org/omim/102520
property_value: exactMatch http://identifiers.org/snomedct/720458005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206860
property_value: exactMatch Orphanet:971

[Term]
id: MONDO:0007060
name: spermatogenic failure 6
def: "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acrosome malformation of spermatozoa" RELATED [OMIM:102530]
synonym: "azoospermia caused by mutation in SPATA16" EXACT [MONDO:design_pattern]
synonym: "globozoospermia" RELATED [OMIM:102530]
synonym: "round-headed spermatozoa" RELATED [OMIM:102530]
synonym: "SPATA16 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 6" EXACT [MONDO:Lexical, OMIM:102530]
synonym: "spermatogenic failure 6; SPGF6" RELATED [OMIM:102530]
synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1, OMIM:102530]
synonym: "spermatozoa, round-headed" RELATED [OMIM:102530]
synonym: "SPGF6" RELATED [MONDO:Lexical, OMIM:102530]
xref: DOID:0070167 {source="MONDO:equivalentTo"}
xref: OMIM:102530 {source="MONDO:equivalentTo"}
xref: SCTID:236818008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
is_a: MONDO:0004983 {source="DC-OMIM:102530", source="MONDO:Redundant", source="OMIM:102530"} ! azoospermia
is_a: MONDO:0015746 {source="ORDO:171709/btnt"} ! male infertility due to globozoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403825
property_value: exactMatch DOID:0070167
property_value: exactMatch http://identifiers.org/omim/102530
property_value: exactMatch http://identifiers.org/snomedct/236818008

[Term]
id: MONDO:0007061
name: acylase, cobalt-activated
synonym: "acylase, cobalt-activated" EXACT [OMIM:102590]
xref: OMIM:102590 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0110356
property_value: exactMatch http://identifiers.org/omim/102590

[Term]
id: MONDO:0007062
name: congenital absence/hypoplasia of fingers excluding thumb, unilateral
def: "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." [Orphanet:973]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:973"}
synonym: "adactylia unilateral" RELATED [GARD:0000377]
synonym: "adactylia, unilateral" RELATED [OMIM:102650]
synonym: "Adactyly of hand, unilateral" EXACT [Orphanet:973]
synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973]
synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973]
synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650]
xref: GARD:0000377 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.3 {source="Orphanet:973", source="ORDO:973/attributed", source="ORDO:973/ntbt"}
xref: MESH:C562417 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="ORDO:973/e"}
xref: Orphanet:973 {source="OMIM:102650", source="GARD:0000377", source="MONDO:equivalentTo"}
is_a: MONDO:0017448 {source="Orphanet:973"} ! congenital absence/hypoplasia of fingers excluding thumb
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220660
property_value: exactMatch http://identifiers.org/mesh/C562417
property_value: exactMatch http://identifiers.org/omim/102650
property_value: exactMatch Orphanet:973
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral xsd:anyURI {source="GARD:0000377"}

[Term]
id: MONDO:0007063
name: obsolete long bone adamantinoma
def: "A adamantinoma that involves the long bone." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0002422

[Term]
id: MONDO:0007064
name: adenosine deaminase deficiency
def: "Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." [Orphanet:277]
subset: gard_rare {source="GARD:0005748"}
subset: ordo_disease {source="Orphanet:277"}
synonym: "ADA" EXACT [DOID:5810]
synonym: "ADA deficiency" EXACT [Orphanet:277]
synonym: "ADA-SCID" RELATED [OMIM:102700]
synonym: "adenosine deaminase deficiency, partial" RELATED [OMIM:102700]
synonym: "adenosine deaminase deficient severe combined immunodeficiency" RELATED [GARD:0005748]
synonym: "partial ADA deficiency" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency, delayed onset" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency, early-onset" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency, late-onset" RELATED [OMIM:102700]
synonym: "SCID due to adenosine deaminase deficiency" EXACT [Orphanet:277]
synonym: "severe combined immunodeficiency due to ADA deficiency" RELATED [GARD:0005748]
synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" RELATED [GARD:0005748]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency" RELATED [OMIM:102700]
xref: CSP:1560-6660 {source="DOID:5810"}
xref: DOID:5810 {source="MONDO:equivalentTo"}
xref: EFO:0009147 {source="MONDO:equivalentTo"}
xref: GARD:0005748 {source="MONDO:equivalentTo"}
xref: ICD10:D81.3 {source="DOID:5810", source="ORDO:277/e", source="ORDO:277/specific", source="Orphanet:277"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066367 {source="ORDO:277/e", source="Orphanet:277"}
xref: MESH:C531816 {source="MONDO:equivalentTo", source="ORDO:277/e", source="MONDO:ontobio", source="Orphanet:277"}
xref: NCIT:C3962 {source="DOID:5810", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:102700 {source="DOID:5810", source="MONDO:equivalentTo", source="ORDO:277/e", source="Orphanet:277"}
xref: Orphanet:277 {source="MONDO:equivalentTo", source="OMIM:102700"}
xref: SCTID:44940001 {source="DOID:5810", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0017855 {source="Orphanet:277"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism
property_value: closeMatch http://identifiers.org/snomedct/124523006
property_value: closeMatch http://identifiers.org/snomedct/190738006
property_value: closeMatch http://identifiers.org/snomedct/190999009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268124
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863236
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863237
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863239
property_value: exactMatch DOID:5810
property_value: exactMatch http://identifiers.org/meddra/10066367
property_value: exactMatch http://identifiers.org/mesh/C531816
property_value: exactMatch http://identifiers.org/omim/102700
property_value: exactMatch http://identifiers.org/snomedct/44940001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392607
property_value: exactMatch NCIT:C3962
property_value: exactMatch Orphanet:277
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency xsd:anyURI {source="GARD:0005748"}

[Term]
id: MONDO:0007065
name: obsolete adenosine deaminase, elevated, hemolytic anemia due to
is_obsolete: true
replaced_by: MONDO:0020458

[Term]
id: MONDO:0007066
name: adenosine triphosphatase deficiency, anemia due to
subset: gard_rare {source="GARD:0000548"}
synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548]
synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800]
synonym: "anemia due to adenosine triphosphatase deficiency" RELATED [GARD:0000548]
xref: GARD:0000548 {source="MONDO:equivalentTo"}
xref: MESH:C566311 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102800 {source="MONDO:equivalentTo"}
xref: Orphanet:1044 {source="MONDO:equivalentTo", source="OMIM:102800"}
xref: SCTID:725057008 {source="MONDO:equivalentTo"}
xref: UMLS:C1863225 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102800"}
is_a: MONDO:0003847 {source="MESH:C566311/inferred", source="Orphanet:1044/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566311
property_value: exactMatch http://identifiers.org/omim/102800
property_value: exactMatch http://identifiers.org/snomedct/725057008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863225
property_value: exactMatch Orphanet:1044
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency xsd:anyURI {source="GARD:0000548"}

[Term]
id: MONDO:0007067
name: pyruvate kinase hyperactivity
def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." [EFO:0005840]
synonym: "adenosine triphosphate, elevated, of erythrocytes" RELATED [OMIM:102900]
synonym: "pyruvate kinase hyperactivity" EXACT [OMIM:102900]
xref: EFO:0005840 {source="MONDO:equivalentTo"}
xref: MESH:C566310 {source="EFO:0005840", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102900 {source="EFO:0005840", source="MONDO:equivalentTo"}
xref: UMLS:C1863224 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102900"}
is_a: MONDO:0016789 {source="EFO:0005840"} ! pyruvate metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C566310
property_value: exactMatch http://identifiers.org/omim/102900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863224

[Term]
id: MONDO:0007068
name: adenylosuccinate lyase deficiency
def: "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." [Orphanet:46]
subset: ordo_disease {source="Orphanet:46"}
synonym: "adenylosuccinase deficiency" EXACT [OMIM:103050, Orphanet:46]
synonym: "adenylosuccinase deficiency; ADSLD" RELATED [OMIM:103050]
synonym: "adenylosuccinase lyase deficiency" RELATED [DOID:0050762]
synonym: "adenylosuccinate lyase deficiency" EXACT [OMIM:103050]
synonym: "ADSL deficiency" EXACT [Orphanet:46]
synonym: "Adsl deficiency" RELATED [OMIM:103050]
synonym: "ADSLD" RELATED [OMIM:103050]
synonym: "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder" EXACT []
synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0050762 {source="MONDO:equivalentTo"}
xref: GARD:0000550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E79.8 {source="Orphanet:46", source="ORDO:46/attributed", source="ORDO:46/ntbt"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538235 {source="ORDO:46/e", source="Orphanet:46", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:103050 {source="ORDO:46/e", source="Orphanet:46", source="MONDO:equivalentTo"}
xref: Orphanet:46 {source="MONDO:equivalentTo", source="OMIM:103050"}
xref: SCTID:15285008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268126 {source="ORDO:46/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:46", source="MONDO:equivalentTo", source="OMIM:103050"}
is_a: MONDO:0004736 {source="DOID:0050762"} ! inherited amino acid metabolic disorder
is_a: MONDO:0015919 {source="Orphanet:46"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019236 {source="Orphanet:46"} ! inborn disorder of purine metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0050762
property_value: exactMatch http://identifiers.org/mesh/C538235
property_value: exactMatch http://identifiers.org/omim/103050
property_value: exactMatch http://identifiers.org/snomedct/15285008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268126
property_value: exactMatch Orphanet:46

[Term]
id: MONDO:0007069
name: obsolete Adie syndrome
is_obsolete: true
replaced_by: MONDO:0018690

[Term]
id: MONDO:0007070
name: adiposis dolorosa
def: "Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." [Orphanet:36397]
subset: gard_rare {source="GARD:0005750"}
subset: ordo_disease {source="Orphanet:36397"}
synonym: "Adiposalgia" EXACT [Orphanet:36397]
synonym: "adipose tissue rheumatism" EXACT [Orphanet:36397]
synonym: "adiposis dolorosa" EXACT [OMIM:103200]
synonym: "Dercum disease" EXACT [DOID:3928, OMIM:103200, Orphanet:36397]
synonym: "Dercum's disease" RELATED [GARD:0005750]
synonym: "lipomatosis dolorosa" EXACT [Orphanet:36397]
synonym: "Neurolipomatosis" EXACT [Orphanet:36397]
xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"}
xref: EFO:1000667 {source="MONDO:equivalentTo"}
xref: GARD:0005750 {source="MONDO:equivalentTo"}
xref: ICD10:E88.2 {source="ORDO:36397/ntbt", source="Orphanet:36397", source="DOID:3928"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001294 {source="ORDO:36397/e", source="Orphanet:36397"}
xref: MESH:D000274 {source="MONDO:equivalentTo", source="ORDO:36397/e", source="MONDO:ontobio", source="Orphanet:36397", source="DOID:3928"}
xref: NCIT:C84540 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3928"}
xref: OMIM:103200 {source="MONDO:equivalentTo", source="ORDO:36397/e", source="Orphanet:36397", source="DOID:3928"}
xref: Orphanet:36397 {source="OMIM:103200", source="MONDO:equivalentTo"}
xref: SCTID:71404003 {source="MONDO:equivalentTo", source="DOID:3928", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0001529 {source="OMIM:103200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:36397/e", source="NCIT:C84540", source="Orphanet:36397", source="DOID:3928"}
xref: Wikipedia:Adiposis_dolorosa {source="EFO:1000667"}
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0006574 {source="DOID:3928", source="EFO:1000667", source="MESH:D000274", source="linkedlifedata", source="linkedlifedata/inferred"} ! lipomatosis
is_a: MONDO:0019296 {source="Orphanet:36397"} ! subcutaneous tissue disease
property_value: exactMatch DOID:3928
property_value: exactMatch http://identifiers.org/meddra/10001294
property_value: exactMatch http://identifiers.org/mesh/D000274
property_value: exactMatch http://identifiers.org/omim/103200
property_value: exactMatch http://identifiers.org/snomedct/71404003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001529
property_value: exactMatch NCIT:C84540
property_value: exactMatch Orphanet:36397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa xsd:anyURI {source="GARD:0005750"}

[Term]
id: MONDO:0007071
name: adrenocortical hypofunction, chronic primary congenital
synonym: "Addison disease, congenital" RELATED [OMIM:103230]
synonym: "adrenocortical hypofunction, chronic primary congenital" EXACT [OMIM:103230]
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562711 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:103230 {source="MONDO:equivalentTo"}
xref: SCTID:12427005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0271740 {source="OMIM:103230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009410 {source="ORDO:85138/btnt"} ! Addison disease
property_value: exactMatch http://identifiers.org/mesh/C562711
property_value: exactMatch http://identifiers.org/omim/103230
property_value: exactMatch http://identifiers.org/snomedct/12427005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271740

[Term]
id: MONDO:0007072
name: ADULT syndrome
def: "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." [Orphanet:978]
subset: ordo_malformation_syndrome {source="Orphanet:978"}
synonym: "acro dermato ungual lacrimal tooth syndrome" RELATED [GARD:0000384]
synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [OMIM:103285]
synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [DOID:0050601, Orphanet:978]
synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [Orphanet:978]
synonym: "ADULT syndrome" EXACT [OMIM:103285]
synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978]
xref: DOID:0050601 {source="MONDO:equivalentTo"}
xref: GARD:0000384 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:978", source="ORDO:978/attributed", source="ORDO:978/ntbt"}
xref: MESH:C538052 {source="ORDO:978/e", source="MONDO:equivalentTo", source="Orphanet:978", source="MONDO:ontobio"}
xref: OMIM:103285 {source="ORDO:978/e", source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978"}
xref: Orphanet:978 {source="OMIM:103285", source="MONDO:equivalentTo"}
xref: SCTID:720464003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C1863204 {source="ORDO:978/e", source="MEDGEN:kboom-pr97-c99", source="OMIM:103285", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:978"}
is_a: MONDO:0000426 {source="DOID:0050601", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015336 {source="Orphanet:978"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017432 {source="Orphanet:978"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:978", source="Orphanet:978/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0020197 {source="Orphanet:978"} ! EEC syndrome and related syndrome
property_value: exactMatch DOID:0050601
property_value: exactMatch http://identifiers.org/mesh/C538052
property_value: exactMatch http://identifiers.org/omim/103285
property_value: exactMatch http://identifiers.org/snomedct/720464003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863204
property_value: exactMatch Orphanet:978

[Term]
id: MONDO:0007073
name: hypoglossia-hypodactyly syndrome
def: "Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." [GARD:0000068]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:989"}
synonym: "aglossia adactylia" RELATED [GARD:0000068]
synonym: "aglossia-adactylia" RELATED [OMIM:103300]
synonym: "aglossia-adactylia syndrome" EXACT [Orphanet:989]
synonym: "Hanhart syndrome" EXACT [OMIM:103300, Orphanet:989]
synonym: "hypoglossia-hypodactylia" RELATED [OMIM:103300]
synonym: "hypoglossia-hypodactylia syndrome" RELATED [GARD:0000068]
synonym: "Jussieu syndrome" EXACT [Orphanet:989]
synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300]
synonym: "peromelia with micrognathia" RELATED [GARD:0000068]
synonym: "peromelia with micrognathism" RELATED [OMIM:103300]
xref: GARD:0000068 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:989", source="ORDO:989/attributed", source="ORDO:989/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:103300 {source="GARD:0000068", source="ORDO:989/e", source="MONDO:equivalentTo", source="Orphanet:989"}
xref: Orphanet:989 {source="GARD:0000068", source="MONDO:equivalentTo", source="OMIM:103300"}
xref: SCTID:35031005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.42/0.83"}
is_a: MONDO:0015334 {source="Orphanet:989"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0017139 {source="Orphanet:989"} ! oromandibular-limb hypogenesis syndrome
is_a: MONDO:0017432 {source="Orphanet:989"} ! syndrome with limb reduction defects
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:989"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0595985
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863203
property_value: exactMatch http://identifiers.org/omim/103300
property_value: exactMatch http://identifiers.org/snomedct/35031005
property_value: exactMatch Orphanet:989

[Term]
id: MONDO:0007074
name: ainhum (disease)
def: "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." [NCIT:P378]
synonym: "ainhum" EXACT [DOID:11329, MONDO:ambiguous, OMIM:103400]
synonym: "Dactylolysis" EXACT [NCIT:C84544]
synonym: "Dactylolysis spontanea" EXACT [DOID:11329, MTHICD9_2006:136.0]
synonym: "spontaneous dactylolysis" RELATED [GARD:0009512]
xref: COHD:136912 {source="MONDO:equivalentTo"}
xref: DOID:11329 {source="MONDO:equivalentTo"}
xref: GARD:0009512 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0031009 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L94.6 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: ICD9:136.0 {source="DOID:11329", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000387 {source="DOID:11329", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84544 {source="DOID:11329", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:103400 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: SCTID:38528001 {source="DOID:11329", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0001860 {source="MEDGEN:kboom-pr98-c99", source="DOID:11329", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:103400", source="NCIT:C84544"}
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/51404004
property_value: exactMatch DOID:11329
property_value: exactMatch http://identifiers.org/mesh/D000387
property_value: exactMatch http://identifiers.org/omim/103400
property_value: exactMatch http://identifiers.org/snomedct/38528001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001860
property_value: exactMatch NCIT:C84544

[Term]
id: MONDO:0007075
name: alacrima, congenital, autosomal dominant
synonym: "alacrima, congenital" RELATED [OMIM:103420]
synonym: "alacrimia congenita" RELATED [OMIM:103420]
synonym: "alacrimia congenita, autosomal dominant" RELATED [OMIM:103420]
xref: MESH:C566307 {source="MONDO:equivalentTo"}
xref: OMIM:103420 {source="MONDO:equivalentTo"}
is_a: MONDO:0019627 {source="ORDO:91416/btnt"} ! isolated congenital alacrima
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863199
property_value: exactMatch http://identifiers.org/mesh/C566307
property_value: exactMatch http://identifiers.org/omim/103420

[Term]
id: MONDO:0007076
name: obsolete ocular albinism with sensorineural deafness
is_obsolete: true
replaced_by: MONDO:0018138

[Term]
id: MONDO:0007077
name: Tietz syndrome
def: "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." [Orphanet:42665]
comment: Editor note: consider classification under albinism
subset: gard_rare {source="GARD:0007772"}
subset: ordo_malformation_syndrome {source="Orphanet:42665"}
synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002]
synonym: "hypopigmentation-deafness syndrome" EXACT [Orphanet:42665]
synonym: "hypopigmentation/deafness of Tietz" EXACT [DOID:0090002, OMIM:103500]
synonym: "TADS" RELATED [OMIM:103500]
synonym: "Tietz albinism-deafness syndrome" EXACT [DOID:0090002, OMIM:103500]
synonym: "Tietz albinism-deafness syndrome; TADS" RELATED [OMIM:103500]
synonym: "Tietz syndrome" EXACT [OMIM:103500]
xref: DOID:0090002 {source="MONDO:equivalentTo"}
xref: GARD:0007772 {source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536919 {source="ORDO:42665/e", source="Orphanet:42665", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:103500 {source="ORDO:42665/e", source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002"}
xref: Orphanet:42665 {source="MONDO:equivalentTo", source="DOID:0090002", source="OMIM:103500"}
xref: SCTID:403805009 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C0391816 {source="ORDO:42665/e", source="Orphanet:42665", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:103500"}
is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0019589 {source="Orphanet:42665"} ! syndromic genetic deafness
is_a: MONDO:0020276 {source="Orphanet:42665"} ! pigmentation disorder with eye involvement, excluding albinism
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0090002
property_value: exactMatch http://identifiers.org/mesh/C536919
property_value: exactMatch http://identifiers.org/omim/103500
property_value: exactMatch http://identifiers.org/snomedct/403805009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391816
property_value: exactMatch Orphanet:42665
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome xsd:anyURI {source="GARD:0007772"}

[Term]
id: MONDO:0007078
name: pseudohypoparathyroidism type 1A
def: "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)." [Orphanet:79443]
subset: gard_rare
subset: ordo_disease {source="Orphanet:79443"}
synonym: "AHO" RELATED [GARD:0005770]
synonym: "AHO-PHP syndrome Ia" EXACT [Orphanet:79443]
synonym: "Albright hereditary osteodystrophy" EXACT [GARD:0005770]
synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129721]
synonym: "Albright hereditary osteodystrophy-PHP syndrome Ia" EXACT [Orphanet:79443]
synonym: "Albright's hereditary osteodystrophy" EXACT [DOID:0080053]
synonym: "PHP 1A" RELATED [OMIM:103580]
synonym: "PHP1A" EXACT [NCIT:C129721]
synonym: "PHP1A" RELATED [MONDO:Lexical, OMIM:103580]
synonym: "pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, NCIT:C129721]
synonym: "pseudohypoparathyroidism, type 1A" RELATED [OMIM:103580]
synonym: "pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580]
synonym: "pseudohypoparathyroidism, type IA; PHP1A" RELATED [OMIM:103580]
xref: DOID:0080053 {source="MONDO:equivalentTo"}
xref: GARD:0005770 {source="MONDO:equivalentTo"}
xref: GARD:0007486 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E20.1 {source="MONDO:subClassOf", source="ORDO:79443/attributed", source="ORDO:79443/ntbt", source="Orphanet:79443"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129721 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.75/0.68"}
xref: OMIM:103580 {source="DOID:0080053", source="MONDO:equivalentTo", source="ORDO:79443/e", source="Orphanet:79443", source="GARD:0005770"}
xref: Orphanet:79443 {source="OMIM:103580", source="MONDO:equivalentTo"}
xref: SCTID:58833000 {source="MONDO:kboom-pr-0.99/0.73/5.48", source="MONDO:equivalentTo"}
xref: UMLS:C2931404 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C3494506 {source="OMIM:103580", source="MONDO:equivalentTo", source="NCIT:C129721", source="ORDO:79443/e", source="Orphanet:79443"}
is_a: MONDO:0018699 {source="Orphanet:79443"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy
property_value: exactMatch DOID:0080053
property_value: exactMatch http://identifiers.org/omim/103580
property_value: exactMatch http://identifiers.org/snomedct/58833000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3494506
property_value: exactMatch NCIT:C129721
property_value: exactMatch Orphanet:79443

[Term]
id: MONDO:0007079
name: alcohol dependence
def: "Physical and psychological dependence on alcohol." [NCIT:P378]
synonym: "Aerodigestive tract cancer, squamous cell, alcohol-related, protection against" RELATED [OMIM:103780]
synonym: "alcohol dependence" EXACT [OMIM:103780]
synonym: "alcohol dependence, protection against" RELATED [OMIM:103780]
synonym: "alcoholism" EXACT [DOID:0050741]
xref: COHD:435243 {source="MONDO:equivalentTo"}
xref: DOID:0050741 {source="MONDO:equivalentTo", source="EFO:0003829"}
xref: EFO:0003829 {source="DOID:0050741", source="MONDO:equivalentTo"}
xref: ICD9:303.90 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:305.0 {source="EFO:0003829"}
xref: KEGG:05034 {source="DOID:0050741", source="MONDO:equivalentTo"}
xref: NCIT:C93040 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0003829"}
xref: OMIM:103780 {source="DOID:0050741", source="MONDO:equivalentTo", source="EFO:0003829"}
xref: SCTID:66590003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11", source="EFO:0003829"}
is_a: MONDO:0002326 ! alcohol-induced mental disorder
is_a: MONDO:0005303 {source="EFO:0003829", source="linkedlifedata", source="linkedlifedata/inferred"} ! drug dependence
is_a: MONDO:0021698 ! alcohol-related disorders
property_value: closeMatch http://identifiers.org/snomedct/126685009
property_value: closeMatch http://identifiers.org/snomedct/95001001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001973
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031347
property_value: exactMatch DOID:0050741
property_value: exactMatch http://identifiers.org/omim/103780
property_value: exactMatch http://identifiers.org/snomedct/66590003
property_value: exactMatch NCIT:C93040

[Term]
id: MONDO:0007080
name: glucocorticoid-remediable aldosteronism
def: "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:403]
subset: gard_rare {source="GARD:0002790"}
subset: ordo_disease {source="Orphanet:403"}
synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [OMIM:103900]
synonym: "aldosteronism, sensitive to dexamethasone" RELATED [OMIM:103900]
synonym: "dexamethasone sensitive hypertension" RELATED [GARD:0002790]
synonym: "dexamethasone-sensitive hypertension" EXACT [Orphanet:403]
synonym: "familial hyperaldosteronism type 1" EXACT [Orphanet:403]
synonym: "familial hyperaldosteronism type I" RELATED [Orphanet:403]
synonym: "FH 1" RELATED [OMIM:103900]
synonym: "FH-I" EXACT [Orphanet:403]
synonym: "FH1" EXACT [Orphanet:403]
synonym: "glucocorticoid sensitive hypertension" RELATED [GARD:0002790]
synonym: "glucocorticoid-remediable aldosteronism" EXACT [MONDO:Lexical, OMIM:103900, Orphanet:403]
synonym: "glucocorticoid-remediable aldosteronism; GRA" RELATED [OMIM:103900]
synonym: "glucocorticoid-sensitive hypertension" EXACT [Orphanet:403]
synonym: "glucocorticoid-suppressible hyperaldosteronism" RELATED [OMIM:103900]
synonym: "GRA" EXACT [MONDO:Lexical, OMIM:103900, Orphanet:403]
synonym: "HALD1" RELATED [OMIM:103900]
synonym: "hyperaldosteronism, familial type 1" RELATED [GARD:0002790]
synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900]
synonym: "hyperaldosteronism, familial, type I; HALD1" RELATED [OMIM:103900]
xref: DOID:14080 {source="MONDO:equivalentTo"}
xref: GARD:0002790 {source="MONDO:equivalentTo"}
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="Orphanet:403", source="ORDO:403/attributed", source="ORDO:403/ntbt"}
xref: ICD10:E26.02 {source="DOID:14080", source="MONDO:equivalentTo"}
xref: ICD9:255.11 {source="DOID:14080"}
xref: MESH:C563177 {source="DOID:14080", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:103900 {source="DOID:14080", source="ORDO:403/e", source="Orphanet:403", source="MONDO:equivalentTo"}
xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"}
xref: UMLS:C1260386 {source="DOID:14080", source="Orphanet:403", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:103900"}
xref: UMLS:C3838731 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015512 {source="Orphanet:403"} ! genetic hypertension
is_a: MONDO:0016525 {source="Orphanet:403"} ! familial hyperaldosteronism
property_value: closeMatch http://identifiers.org/snomedct/237743003
property_value: exactMatch DOID:14080
property_value: exactMatch http://identifiers.org/mesh/C563177
property_value: exactMatch http://identifiers.org/omim/103900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838731
property_value: exactMatch NCIT:C123248
property_value: exactMatch Orphanet:403
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism xsd:anyURI {source="GARD:0002790"}

[Term]
id: MONDO:0007081
name: obsolete allergic bronchopulmonary aspergillosis
is_obsolete: true
replaced_by: MONDO:0015243

[Term]
id: MONDO:0007082
name: alopecia areata 1
synonym: "AA1" RELATED [MONDO:Lexical, OMIM:104000]
synonym: "alopecia areata 1" EXACT [MONDO:Lexical, OMIM:104000]
synonym: "alopecia areata 1; AA1" RELATED [OMIM:104000]
synonym: "alopecia universalis" RELATED [OMIM:104000]
xref: OMIM:104000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863094 {source="OMIM:104000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000005 {source="DC-OMIM:104000", source="OMIM:104000"} ! alopecia, isolated
is_a: MONDO:0005340 {source="MONDOLEX:0007082"} ! alopecia areata
property_value: exactMatch http://identifiers.org/omim/104000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863094

[Term]
id: MONDO:0007083
name: autosomal dominant palmoplantar keratoderma and congenital alopecia
def: "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." [Orphanet:1010]
subset: gard_rare {source="GARD:0000604"}
subset: ordo_disease {source="Orphanet:1010"}
synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [GARD:0000604]
synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1010]
synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" RELATED [OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia 1" RELATED [MONDO:Lexical, OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia 1; PPKCA1" RELATED [OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia type 1" EXACT [MONDORULE:1, OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [Orphanet:1010]
synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010]
synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100]
synonym: "PPKCA1" RELATED [MONDO:Lexical, OMIM:104100]
xref: GARD:0000604 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:1010", source="ORDO:1010/attributed", source="ORDO:1010/ntbt"}
xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="ORDO:1010/e"}
xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"}
xref: SCTID:719518004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019287 {source="Orphanet:1010", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020094 {source="Orphanet:1010"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863093
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151468
property_value: exactMatch http://identifiers.org/omim/104100
property_value: exactMatch http://identifiers.org/snomedct/719518004
property_value: exactMatch Orphanet:1010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia xsd:anyURI {source="GARD:0000604"}

[Term]
id: MONDO:0007084
name: familial focal alopecia
synonym: "alopecia, familial focal" EXACT [MONDO:Lexical, OMIM:104110]
synonym: "alopecia, familial focal; ALPF" RELATED [OMIM:104110]
synonym: "ALPF" RELATED [MONDO:Lexical, OMIM:104110]
xref: MESH:C566301 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104110 {source="MONDO:equivalentTo"}
xref: UMLS:C1863092 {source="OMIM:104110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000005 {source="OMIM:104110"} ! alopecia, isolated
property_value: exactMatch http://identifiers.org/mesh/C566301
property_value: exactMatch http://identifiers.org/omim/104110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863092

[Term]
id: MONDO:0007085
name: alopecia-epilepsy-pyorrhea-intellectual disability syndrome
def: "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." [Orphanet:1008]
subset: ordo_disease {source="Orphanet:1008"}
synonym: "alopecia, epilepsy, pyorrhea, mental subnormality" RELATED [GARD:0000607]
synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [OMIM:104130]
synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607]
synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008]
xref: GARD:0000607 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1008/attributed", source="ORDO:1008/ntbt", source="Orphanet:1008"}
xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e", source="MONDO:ontobio"}
xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e"}
xref: Orphanet:1008 {source="OMIM:104130", source="MONDO:equivalentTo"}
xref: SCTID:720980004 {source="MONDO:kboom-pr-0.99/0.73/5.17", source="MONDO:equivalentTo"}
xref: UMLS:C1863090 {source="OMIM:104130", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e"}
is_a: MONDO:0000508 {source="Orphanet:1008"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:1008"} ! genetic alopecia
property_value: exactMatch http://identifiers.org/mesh/C537057
property_value: exactMatch http://identifiers.org/omim/104130
property_value: exactMatch http://identifiers.org/snomedct/720980004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863090
property_value: exactMatch Orphanet:1008

[Term]
id: MONDO:0007086
name: autosomal dominant Alport syndrome
def: "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." [https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome]
subset: gard_rare {source="GARD:0000624"}
subset: ordo_etiological_subtype {source="Orphanet:88918"}
synonym: "Alport syndrome dominant type" RELATED [GARD:0000624]
synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:104200]
synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624]
xref: DOID:0110032 {source="MONDO:equivalentTo"}
xref: GARD:0000624 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:88918/attributed", source="ORDO:88918/ntbt", source="Orphanet:88918"}
xref: OMIM:104200 {source="MONDO:equivalentTo", source="ORDO:88918/e", source="DOID:0110032", source="Orphanet:88918"}
xref: Orphanet:88918 {source="OMIM:104200", source="MONDO:equivalentTo", source="DOID:0110032"}
xref: SCTID:717766000 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="Orphanet:88918"} ! Alport syndrome
property_value: exactMatch DOID:0110032
property_value: exactMatch http://identifiers.org/mesh/C536586
property_value: exactMatch http://identifiers.org/omim/104200
property_value: exactMatch http://identifiers.org/snomedct/717766000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931253
property_value: exactMatch Orphanet:88918
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome xsd:anyURI {source="GARD:0000624"}

[Term]
id: MONDO:0007087
name: alternating hemiplegia of childhood 1
def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AHC1" RELATED [MONDO:Lexical, OMIM:104290]
synonym: "alternating hemiplegia of childhood 1" EXACT [MONDO:Lexical, OMIM:104290]
synonym: "alternating hemiplegia of childhood 1; AHC1" RELATED [OMIM:104290]
synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A2" EXACT [MONDO:design_pattern]
synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1, OMIM:104290]
synonym: "ATP1A2 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:104290 {source="MONDO:equivalentTo"}
xref: UMLS:C3549447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104290"}
is_a: MONDO:0016241 {source="DC-OMIM:104290", source="MONDO:Redundant", source="MONDOLEX:0007087", source="OMIM:104290"} ! alternating hemiplegia of childhood
property_value: exactMatch http://identifiers.org/omim/104290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3549447

[Term]
id: MONDO:0007088
name: Alzheimer disease type 1
subset: gard_rare {source="GARD:0009465"}
synonym: "AD1" RELATED [GARD:0009465]
synonym: "Alzheimer disease 1" RELATED [GARD:0009465]
synonym: "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" RELATED [OMIM:104300]
synonym: "Alzheimer disease, familial, 1" RELATED [OMIM:104300]
synonym: "Alzheimer disease, protection against" RELATED [OMIM:104300]
synonym: "Alzheimer disease; AD" RELATED [OMIM:104300]
synonym: "early-onset familial form of Alzheimer disease" BROAD [GARD:0009465]
synonym: "presenile and senile dementia" RELATED [OMIM:104300]
xref: DOID:0080348 {source="MONDO:equivalentTo"}
xref: GARD:0009465 {source="MONDO:equivalentTo"}
xref: OMIM:104300 {source="MONDO:equivalentTo", source="DOID:0080348"}
xref: UMLS:C2931257 {source="MONDOLcjm", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1541844
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863052
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863053
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549448
property_value: closeMatch Orphanet:98926
property_value: exactMatch DOID:0080348
property_value: exactMatch http://identifiers.org/omim/104300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931257
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1 xsd:anyURI {source="GARD:0009465"}

[Term]
id: MONDO:0007089
name: Alzheimer disease 2
def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." [DOID:0110035, PMID:8346443]
synonym: "AD2" EXACT [DOID:0110035, OMIM:104310]
synonym: "Alzheimer disease 2" EXACT [OMIM:104310]
synonym: "Alzheimer disease 2, late onset" EXACT [DOID:0110035]
synonym: "Alzheimer disease 2, late-onset" RELATED [OMIM:104310]
synonym: "Alzheimer disease 2; AD2" RELATED [OMIM:104310]
synonym: "Alzheimer disease associated with APOE E4" RELATED [GARD:0009467]
synonym: "Alzheimer disease associated with APOE4" EXACT [DOID:0110035]
synonym: "Alzheimer disease associated with Apoe4" RELATED [OMIM:104310]
synonym: "Alzheimer disease type 2" EXACT [MONDORULE:1, OMIM:104310]
synonym: "Alzheimer disease-2" EXACT [DOID:0110035]
synonym: "Alzheimer's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 2" EXACT [DOID:0110035, MONDORULE:1]
synonym: "late onset Alzheimer disease" RELATED [GARD:0009467]
synonym: "late onset familial Alzheimer disease" RELATED [GARD:0009467]
synonym: "LOFAD" RELATED [GARD:0009467]
xref: DOID:0110035 {source="MONDO:equivalentTo"}
xref: GARD:0009467 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110035"}
xref: MESH:C536595 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104310 {source="MONDO:equivalentTo", source="DOID:0110035"}
xref: UMLS:C1863051 {source="NCBI:mim2gene_medline", source="OMIM:104310", source="MONDO:equivalentTo"}
is_a: MONDO:0004975 {source="https://github.com/monarch-initiative/mondo/issues/1304"} ! Alzheimer disease
relationship: excluded_subClassOf MONDO:0015140 {source="MONDOLEX:0007089", source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110035
property_value: exactMatch http://identifiers.org/mesh/C536595
property_value: exactMatch http://identifiers.org/omim/104310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863051

[Term]
id: MONDO:0007090
name: amastia, bilateral, with ureteral triplication and dysmorphism
synonym: "amastia, bilateral, with ureteral triplication and dysmorphism" EXACT [OMIM:104350]
xref: MESH:C566295 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104350 {source="MONDO:equivalentTo"}
xref: UMLS:C1863015 {source="OMIM:104350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566295
property_value: exactMatch http://identifiers.org/omim/104350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863015

[Term]
id: MONDO:0007091
name: amelia and terminal transverse hemimelia
synonym: "amelia and terminal transverse hemimelia" EXACT [OMIM:104400]
xref: MESH:C566294 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104400 {source="MONDO:equivalentTo"}
xref: UMLS:C1863014 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566294
property_value: exactMatch http://identifiers.org/omim/104400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863014

[Term]
id: MONDO:0007092
name: amelogenesis imperfecta type 1B
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI1B" EXACT [DOID:0110052, MONDO:Lexical, OMIM:104500]
synonym: "AIH2" RELATED [DOID:0110052, OMIM:104500]
synonym: "amelogenesis imperfecta caused by mutation in ENAM" EXACT []
synonym: "amelogenesis imperfecta caused by mutation in enam" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta type IB" EXACT [DOID:0110052]
synonym: "amelogenesis imperfecta, hypoplastic local, autosomal dominant" RELATED [OMIM:104500]
synonym: "amelogenesis imperfecta, type 1B" RELATED [OMIM:104500]
synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical, OMIM:104500]
synonym: "amelogenesis imperfecta, type IB; AI1B" RELATED [OMIM:104500]
synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [DOID:0110052]
synonym: "ENAM amelogenesis imperfecta" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "enam amelogenesis imperfecta" EXACT [MONDO:design_pattern]
synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500]
synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052]
xref: DOID:0110052 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110052"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562879 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104500 {source="MONDO:equivalentTo", source="DOID:0110052"}
xref: SCTID:234961008 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:C0399368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104500"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015047 {source="MONDOLEX:0007092", source="ORDO:100031/btnt", source="linkedlifedata"} ! amelogenesis imperfecta type 1
property_value: exactMatch DOID:0110052
property_value: exactMatch http://identifiers.org/mesh/C562879
property_value: exactMatch http://identifiers.org/omim/104500
property_value: exactMatch http://identifiers.org/snomedct/234961008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399368

[Term]
id: MONDO:0007093
name: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:100034"}
synonym: "AI4" EXACT [DOID:0110053, MONDO:Lexical, OMIM:104510]
synonym: "AIHHT" EXACT [DOID:0110053]
synonym: "amelogenesis imperfecta caused by mutation in DLX3" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [DOID:0110053]
synonym: "amelogenesis imperfecta type 4" EXACT [Orphanet:100034]
synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [OMIM:104510]
synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510]
synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510]
synonym: "amelogenesis imperfecta, type IV; AI4" RELATED [OMIM:104510]
synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110053 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="Orphanet:100034", source="DOID:0110053", source="ORDO:100034/attributed", source="ORDO:100034/ntbt"}
xref: MESH:C566293 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104510 {source="ORDO:100034/e", source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053"}
xref: Orphanet:100034 {source="MONDO:equivalentTo", source="OMIM:104510"}
xref: UMLS:C1863012 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:100034", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104510"}
is_a: MONDO:0019507 {source="DC-OMIM:104510", source="DOID:0110053", source="MESH:C566293", source="MONDO:Redundant", source="OMIM:104510", source="Orphanet:100034"} ! amelogenesis imperfecta
property_value: exactMatch DOID:0110053
property_value: exactMatch http://identifiers.org/mesh/C566293
property_value: exactMatch http://identifiers.org/omim/104510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863012
property_value: exactMatch Orphanet:100034

[Term]
id: MONDO:0007094
name: amelogenesis imperfecta type 1A
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:104530"}
subset: gard_rare
synonym: "AI1A" EXACT [DOID:0110054, MONDO:Lexical, OMIM:104530]
synonym: "amelogenesis imperfecta caused by mutation in LAMB3" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [DOID:0110054]
synonym: "amelogenesis imperfecta local hypoplastic" RELATED [GARD:0000645]
synonym: "amelogenesis imperfecta type IA" EXACT [DOID:0110054]
synonym: "amelogenesis imperfecta, hypoplastic type 1A" RELATED [OMIM:104530]
synonym: "amelogenesis imperfecta, type 1A" RELATED [OMIM:104530]
synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical, OMIM:104530]
synonym: "amelogenesis imperfecta, type IA; AI1A" RELATED [OMIM:104530]
synonym: "LAMB3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "local hypoplastic amelogenesis imperfecta" RELATED [GARD:0000645]
xref: DOID:0110054 {source="MONDO:equivalentTo"}
xref: GARD:0000645 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110054"}
xref: MESH:C538240 {source="MONDO:equivalentTo"}
xref: OMIM:104530 {source="MONDO:equivalentTo", source="GARD:0000645", source="DOID:0110054"}
is_a: MONDO:0015047 {source="MONDOLEX:0007094", source="ORDO:100031/btnt"} ! amelogenesis imperfecta type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399367
property_value: exactMatch DOID:0110054
property_value: exactMatch http://identifiers.org/mesh/C538240
property_value: exactMatch http://identifiers.org/omim/104530
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic xsd:anyURI {source="GARD:0000645"}

[Term]
id: MONDO:0007095
name: ameloonychohypohidrotic syndrome
subset: gard_rare {source="GARD:0000647"}
subset: ordo_malformation_syndrome {source="Orphanet:1028"}
synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN:978-88-470-0687-4]
synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570]
synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647]
xref: GARD:0000647 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="ORDO:1028/attributed", source="ORDO:1028/ntbt", source="Orphanet:1028"}
xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e", source="MONDO:ontobio"}
xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e"}
xref: Orphanet:1028 {source="OMIM:104570", source="MONDO:equivalentTo"}
xref: SCTID:715404000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.25"}
xref: UMLS:C1863006 {source="OMIM:104570", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e"}
is_a: MONDO:0019287 {source="Orphanet:1028", source="linkedlifedata"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C538245
property_value: exactMatch http://identifiers.org/omim/104570
property_value: exactMatch http://identifiers.org/snomedct/715404000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863006
property_value: exactMatch Orphanet:1028
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome xsd:anyURI {source="GARD:0000647"}

[Term]
id: MONDO:0007096
name: amenorrhea-galactorrhea syndrome
synonym: "amenorrhea-galactorrhea syndrome" EXACT [OMIM:104600]
xref: ICD9:253.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537072 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:104600 {source="MONDO:equivalentTo"}
xref: SCTID:64678009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.48"}
xref: UMLS:C0271556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537072
property_value: exactMatch http://identifiers.org/omim/104600
property_value: exactMatch http://identifiers.org/snomedct/64678009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271556

[Term]
id: MONDO:0007097
name: Finnish type amyloidosis
subset: ordo_disease {source="Orphanet:85448"}
synonym: "AGel amyloidosis" RELATED [Orphanet:85448]
synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [OMIM:105120]
synonym: "amyloidosis 5" RELATED [OMIM:105120]
synonym: "amyloidosis due to mutant gelsolin" RELATED [OMIM:105120]
synonym: "amyloidosis V" RELATED [GARD:0002339]
synonym: "amyloidosis, Finnish type" RELATED [OMIM:105120]
synonym: "amyloidosis, MERETOJA type" EXACT [DOID:0050637]
synonym: "amyloidosis, Meretoja type" RELATED [OMIM:105120]
synonym: "cerebral amyloid angiopathy, Gsn-related" RELATED [OMIM:105120]
synonym: "corneal dystrophy, lattice type 2" RELATED [OMIM:105120]
synonym: "familial amyloid polyneuropathy type IV" EXACT [Orphanet:85448]
synonym: "familial amyloidosis, Finnish type" EXACT [Orphanet:85448]
synonym: "gelsolin amyloidosis" EXACT [Orphanet:85448]
synonym: "hereditary amyloidosis, Finnish type" EXACT [Orphanet:85448]
synonym: "hereditary gelsolin amyloidosis" RELATED [GARD:0002339]
synonym: "lattice corneal dystrophy type II Finnish" RELATED [GARD:0002339]
synonym: "lattice corneal dystrophy, type 2" RELATED [OMIM:105120]
synonym: "meretoja syndrome" EXACT []
synonym: "meretoja type amyloidosis" RELATED []
xref: DOID:0050637 {source="MONDO:equivalentTo"}
xref: GARD:0002339 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E85.1 {source="ORDO:85448/attributed", source="ORDO:85448/ntbt", source="Orphanet:85448"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537459 {source="MONDO:equivalentTo"}
xref: OMIM:105120 {source="ORDO:85448/e", source="MONDO:equivalentTo", source="Orphanet:85448", source="DOID:0050637"}
xref: Orphanet:85448 {source="OMIM:105120", source="MONDO:equivalentTo"}
xref: SCTID:419398009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016134 {source="Orphanet:85448"} ! rare hereditary systemic disease with peripheral neuropathy
is_a: MONDO:0018634 {source="MONDOLEX:0007097", source="Orphanet:85448"} ! hereditary amyloidosis
is_a: MONDO:0020215 {source="Orphanet:85448"} ! syndromic corneal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0936273
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1622345
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1628319
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751493
property_value: exactMatch DOID:0050637
property_value: exactMatch http://identifiers.org/mesh/C537459
property_value: exactMatch http://identifiers.org/omim/105120
property_value: exactMatch http://identifiers.org/snomedct/419398009
property_value: exactMatch Orphanet:85448

[Term]
id: MONDO:0007098
name: ACys amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." [Orphanet:100008]
subset: ordo_clinical_subtype {source="Orphanet:100008"}
synonym: "amyloidosis 6" RELATED [OMIM:105150]
synonym: "amyloidosis VI" EXACT [DOID:0070027]
synonym: "amyloidosis, Cerebroarterial, Icelandic type" EXACT [DOID:0070027]
synonym: "cerebral amyloid angiopathy, CST3-related" RELATED [OMIM:105150]
synonym: "cerebral hemorrhage, hereditary, with amyloidosis" EXACT [DOID:0070027, OMIM:105150]
synonym: "CST3-related amyloidosis" EXACT [Orphanet:100008]
synonym: "CST3-related cerebral amyloid angiopathy" RELATED [DOID:0070027]
synonym: "cystatin amyloidosis" EXACT [Orphanet:100008]
synonym: "HCHWA" EXACT EXCLUDE [DOID:0070027]
synonym: "HCHWA, Icelandic type" EXACT [Orphanet:100008]
synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, OMIM:105150]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008]
synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008]
xref: DOID:0070027 {source="MONDO:equivalentTo"}
xref: ICD10:E85.4+ {source="ORDO:100008/attributed", source="ORDO:100008/ntbt", source="Orphanet:100008"}
xref: ICD10:I68.0* {source="ORDO:100008/attributed", source="ORDO:100008/ntbt", source="Orphanet:100008"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:105150 {source="DOID:0070027", source="MONDO:equivalentTo", source="Orphanet:100008", source="ORDO:100008/e"}
xref: Orphanet:100008 {source="MONDO:equivalentTo", source="OMIM:105150"}
xref: SCTID:703220002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0005620 {source="DC-OMIM:105150", source="DOID:0070027", source="Orphanet:100008", source="linkedlifedata"} ! cerebral amyloid angiopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510489
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527338
property_value: exactMatch DOID:0070027
property_value: exactMatch http://identifiers.org/omim/105150
property_value: exactMatch http://identifiers.org/snomedct/703220002
property_value: exactMatch Orphanet:100008

[Term]
id: MONDO:0007099
name: familial visceral amyloidosis
subset: gard_rare {source="GARD:0008282"}
subset: ordo_disease {source="Orphanet:85450"}
synonym: "amyloidosis 8" RELATED [OMIM:105200]
synonym: "amyloidosis familial renal" RELATED [GARD:0008282]
synonym: "amyloidosis familial visceral" RELATED [GARD:0008282]
synonym: "amyloidosis systemic nonneuropathic" RELATED [GARD:0008282]
synonym: "amyloidosis VIII" RELATED [GARD:0008282]
synonym: "amyloidosis, familial renal" EXACT [DOID:0050636]
synonym: "amyloidosis, familial visceral" RELATED [OMIM:105200]
synonym: "amyloidosis, Ostertag type" EXACT [Orphanet:85450]
synonym: "amyloidosis, systemic Nonneuropathic" RELATED [OMIM:105200]
synonym: "familial amyloid nephropathy" EXACT [Orphanet:85450]
synonym: "familial renal amyloidosis" EXACT [Orphanet:85450]
synonym: "German type amyloidosis" EXACT [DOID:0050636, OMIM:105200]
synonym: "hereditary amyloid nephropathy" EXACT [Orphanet:85450]
synonym: "hereditary amyloidosis with primary renal involement" RELATED [GARD:0008282]
synonym: "hereditary renal amyloidosis" EXACT [Orphanet:85450]
synonym: "Ostertag type amyloidosis" EXACT [DOID:0050636, OMIM:105200]
synonym: "systemic nonneuropathic amyloidosis" EXACT [DOID:0050636]
xref: DOID:0050636 {source="MONDO:equivalentTo"}
xref: GARD:0008282 {source="MONDO:equivalentTo"}
xref: ICD10:E85.0 {source="ORDO:85450/ntbt", source="ORDO:85450/inclusion", source="Orphanet:85450"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105200 {source="MONDO:equivalentTo", source="DOID:0050636", source="ORDO:85450/e", source="Orphanet:85450"}
xref: Orphanet:85450 {source="OMIM:105200", source="MONDO:equivalentTo"}
xref: SCTID:66451004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C0268389 {source="OMIM:105200", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018634 {source="MESH:C538249", source="MONDO:Redundant", source="MONDOLEX:0007099", source="Orphanet:85450"} ! hereditary amyloidosis
is_a: MONDO:0019724 {source="Orphanet:85450"} ! secondary glomerular disease
property_value: exactMatch DOID:0050636
property_value: exactMatch http://identifiers.org/mesh/C538249
property_value: exactMatch http://identifiers.org/omim/105200
property_value: exactMatch http://identifiers.org/snomedct/66451004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268389
property_value: exactMatch Orphanet:85450
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral xsd:anyURI {source="GARD:0008282"}

[Term]
id: MONDO:0007100
name: familial amyloid neuropathy
def: "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." [Orphanet:85447]
subset: ordo_disease {source="Orphanet:85447"}
synonym: "amyloid cardiomyopathy, transthyretin-related" RELATED [OMIM:105210]
synonym: "amyloid Neuropathies, familial" EXACT [NCIT:C84554]
synonym: "amyloid polyneuropathy, familial" RELATED [OMIM:105210]
synonym: "amyloidosis transthyretin related" RELATED [GARD:0000656]
synonym: "amyloidosis, hereditary, transthyretin-related" EXACT [DOID:0050638]
synonym: "amyloidosis, leptomeningeal, transthyretin-related" RELATED [OMIM:105210]
synonym: "ATTRV30M amyloidosis" RELATED [Orphanet:85447]
synonym: "ATTRV30M-related amyloidosis" EXACT [Orphanet:85447]
synonym: "Corino de Andrade's disease" EXACT [DOID:0050638]
synonym: "familial amyloid polyneuropathy" EXACT [DOID:0050638]
synonym: "familial amyloid polyneuropathy type I" EXACT [Orphanet:85447]
synonym: "familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)" EXACT [Orphanet:85447]
synonym: "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type" EXACT [Orphanet:85447]
synonym: "familial transthyretin amyloidosis" EXACT [DOID:0050638]
synonym: "hereditary amyloidosis, transthyretin-related" RELATED [OMIM:105210]
synonym: "paramyloidosis" EXACT [https://globalgenes.org/raredaily/today-is-paramyloidosis-observanc-day/]
synonym: "transthyretin amyloid neuropathy" EXACT [Orphanet:85447]
synonym: "transthyretin amyloid polyneuropathy" EXACT [Orphanet:85447]
synonym: "transthyretin amyloidosis" RELATED [OMIM:105210]
synonym: "transthyretin-related hereditary amyloidosis" EXACT [DOID:0050638]
synonym: "TTR amyloid neuropathy" EXACT [Orphanet:85447]
synonym: "TTR amyloidosis" EXACT [DOID:0050638]
xref: DOID:0050638 {source="MONDO:equivalentTo"}
xref: DOID:0050761 {source="MONDO:equivalentTo"}
xref: EFO:0004129 {source="MONDO:equivalentTo"}
xref: GARD:0000656 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E85.1+ {source="Orphanet:85447", source="ORDO:85447/ntbt", source="ORDO:85447/inclusion"}
xref: ICD10:G63.3* {source="ORDO:85447/e", source="Orphanet:85447", source="ORDO:85447/inclusion"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C84554 {source="EFO:0004129", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:105210 {source="ORDO:85447/e", source="EFO:0004129", source="MONDO:equivalentTo", source="Orphanet:85447", source="DOID:0050638"}
xref: Orphanet:85447 {source="OMIM:105210", source="MONDO:equivalentTo"}
xref: SCTID:42295001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.20"}
xref: UMLS:C0206245 {source="MONDO:equivalentTo", source="Orphanet:85447", source="NCIT:C84554"}
xref: UMLS:C2751492 {source="OMIM:105210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016134 {source="Orphanet:85447"} ! rare hereditary systemic disease with peripheral neuropathy
is_a: MONDO:0017132 {source="Orphanet:85447"} ! hereditary ATTR amyloidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151470
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151471
property_value: exactMatch DOID:0050638
property_value: exactMatch DOID:0050761
property_value: exactMatch http://identifiers.org/omim/105210
property_value: exactMatch http://identifiers.org/snomedct/42295001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206245
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751492
property_value: exactMatch NCIT:C84554
property_value: exactMatch Orphanet:85447

[Term]
id: MONDO:0007101
name: familial primary localized cutaneous amyloidosis
def: "Primary cutaneous amyloidosis is a form of amyloidosis , a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis: Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals.The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis , sarcoidosis , and psoriasis . Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes ( mutations ) in the OSMR or IL31RA gene. Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching." [GARD:0000132]
subset: gard_rare
subset: ordo_disease {source="Orphanet:353220"}
synonym: "amyloidosis 9" RELATED [GARD:0000132, OMIM:105250]
synonym: "amyloidosis familial cutaneous lichen" RELATED [GARD:0000132]
synonym: "amyloidosis IX" RELATED [GARD:0000132]
synonym: "amyloidosis, primary localized cutaneous, 1" RELATED [MONDO:Lexical, OMIM:105250]
synonym: "amyloidosis, primary localized cutaneous, type 1" EXACT [MONDORULE:1, OMIM:105250]
synonym: "FPLCA" EXACT [Orphanet:353220]
synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary]
synonym: "lichen amyloidosis familial" RELATED [GARD:0000132]
synonym: "PLCA" RELATED [GARD:0000132]
synonym: "PLCA1" RELATED [MONDO:Lexical, OMIM:105250]
synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132]
xref: GARD:0000132 {source="MONDO:equivalentTo"}
xref: ICD10:E85.4+ {source="Orphanet:353220", source="ORDO:353220/attributed", source="ORDO:353220/ntbt"}
xref: ICD10:L99.0* {source="Orphanet:353220", source="ORDO:353220/attributed", source="ORDO:353220/ntbt"}
xref: MESH:C562643 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:353220 {source="MONDO:equivalentTo", source="OMIM:105250"}
xref: UMLS:CN204529 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015301 {source="DC-OMIM:105250", source="MONDO:Redundant", source="MONDOLEX:0007101", source="OMIM:105250", source="Orphanet:353220"} ! primary cutaneous amyloidosis
is_a: MONDO:0018634 {source="MESH:C562643", source="MONDO:Redundant", source="OWLReasoner:2017"} ! hereditary amyloidosis
is_a: MONDO:0018798 {source="Orphanet:353220"} ! other genetic dermis disorder
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0015301 ! primary cutaneous amyloidosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C562643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204529
property_value: exactMatch Orphanet:353220
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis xsd:anyURI {source="GARD:0000132"}

[Term]
id: MONDO:0007102
name: amyotrophic dystonic paraplegia
synonym: "amyotrophic dystonic paraplegia" EXACT [OMIM:105300]
xref: MESH:C566292 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105300 {source="MONDO:equivalentTo"}
xref: UMLS:C1862956 {source="NCBI:mim2gene_medline", source="OMIM:105300", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566292/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566292
property_value: exactMatch http://identifiers.org/omim/105300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862956

[Term]
id: MONDO:0007103
name: amyotrophic lateral sclerosis type 1
synonym: "ALS1" EXACT [DOID:0060193, MESH:C531617, MONDO:Lexical, OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1" EXACT [DOID:0060193, MONDO:Lexical, OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" RELATED [OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" RELATED [OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, familial" RELATED [MESH:C531617, OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1; ALS1" RELATED [OMIM:105400]
synonym: "amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105400]
synonym: "amyotrophic lateral sclerosis, autosomal dominant" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis, familial" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis, sporadic" RELATED [MESH:C531617, OMIM:105400]
synonym: "amyotrophic lateral sclerosis, sporadic, included" RELATED [MESH:C531617]
synonym: "FALS" RELATED [MESH:C531617]
xref: DOID:0060193 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="DOID:0060193"}
xref: MESH:C531617 {source="MONDO:equivalentTo"}
xref: OMIM:105400 {source="MEDIC:C531617", source="MONDO:equivalentTo", source="DOID:0060193"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862939
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862941
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3542025
property_value: exactMatch DOID:0060193
property_value: exactMatch http://identifiers.org/mesh/C531617
property_value: exactMatch http://identifiers.org/omim/105400

[Term]
id: MONDO:0007104
name: amyotrophic lateral sclerosis-parkinsonism-dementia complex
subset: ordo_disease {source="Orphanet:90020"}
synonym: "ALS-pDC" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam" RELATED [GARD:0009239]
synonym: "amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [Orphanet:90020]
synonym: "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1" EXACT [MONDORULE:1, OMIM:105500]
synonym: "Guam disease" EXACT [OMIM:105500, Orphanet:90020]
synonym: "Lytico-Bodig disease" EXACT [Orphanet:90020]
synonym: "Lytigo-Bodig disease" EXACT [https://doi.org/10.1016/S0140-6736(00)02672-6]
synonym: "Parkinsonism-dementia-ALS complex" EXACT [Orphanet:90020]
synonym: "PDALS" EXACT [Orphanet:90020]
xref: GARD:0009239 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="ORDO:90020/ntbt"}
xref: OMIM:105500 {source="ORDO:90020/e", source="Orphanet:90020", source="MONDO:equivalentTo"}
xref: Orphanet:90020 {source="MONDO:equivalentTo", source="OMIM:105500"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: disease_has_feature MONDO:0004976 ! amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543859
property_value: exactMatch http://identifiers.org/omim/105500
property_value: exactMatch Orphanet:90020

[Term]
id: MONDO:0007105
name: frontotemporal dementia with motor neuron disease 1
def: "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALSFTD" EXACT [DOID:0060213, OMIM:105550]
synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550]
synonym: "C9ORF72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern]
synonym: "C9orf72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [DOID:0060213, OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" RELATED [MONDO:Lexical, OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1; FTDALS1" RELATED [OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105550]
synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [DOID:0060213, OMIM:105550]
synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72" EXACT [MONDO:design_pattern]
synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72" EXACT []
synonym: "FTDALS1" RELATED [MONDO:Lexical, OMIM:105550]
synonym: "FTDMND" EXACT [DOID:0060213, OMIM:105550]
xref: DOID:0060213 {source="MONDO:equivalentTo"}
xref: OMIM:105550 {source="MONDO:equivalentTo"}
xref: UMLS:C1862937 {source="OMIM:105550", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 {source="MONDO:cjm"} ! FTDALS
property_value: exactMatch DOID:0060213
property_value: exactMatch http://identifiers.org/omim/105550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862937

[Term]
id: MONDO:0007106
name: anal sphincter dysplasia
subset: gard_rare {source="GARD:0009822"}
synonym: "anal sphincter dysplasia" EXACT [MONDO:Lexical, OMIM:105563]
synonym: "anal sphincter dysplasia; ASDP" RELATED [OMIM:105563]
synonym: "ASDP" RELATED [MONDO:Lexical, OMIM:105563]
xref: GARD:0009822 {source="MONDO:equivalentTo"}
xref: MESH:C538254 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105563 {source="MONDO:equivalentTo"}
xref: UMLS:C1862936 {source="OMIM:105563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538254/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538254
property_value: exactMatch http://identifiers.org/omim/105563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862936
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia xsd:anyURI {source="GARD:0009822"}

[Term]
id: MONDO:0007107
name: anal sphincter myopathy, internal
synonym: "anal sphincter myopathy, internal" EXACT [OMIM:105565]
synonym: "proctalgia fugax due to anal sphincter myopathy" RELATED [OMIM:105565]
xref: MESH:C566287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105565 {source="MONDO:equivalentTo"}
xref: UMLS:C1862935 {source="OMIM:105565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566287
property_value: exactMatch http://identifiers.org/omim/105565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862935

[Term]
id: MONDO:0007108
name: anal canal carcinoma
def: "A carcinoma that arises from epithelial cells of the anal canal" [MONDO:DesignPattern]
subset: ordo_group_of_disorders {source="Orphanet:424013"}
synonym: "anal canal and perianal gland cancer" EXACT [NCIT:C7489]
synonym: "anal canal and perianal gland carcinoma" EXACT [DOID:6126, NCIT:C7489]
synonym: "anal canal cancer" EXACT [NCIT:C7489]
synonym: "anal canal carcinoma" EXACT [MONDO:patterns/location, NCIT:C7489, OMIM:105580]
synonym: "carcinoma of anal canal" EXACT [DOID:6126, MONDO:patterns/carcinoma]
synonym: "carcinoma of the anal canal" EXACT [MONDO:0018517]
synonym: "cloacogenic carcinoma" RELATED [OMIM:105580]
synonym: "obsolete carcinoma of the anal canal" EXACT [MONDO:0018517]
xref: DOID:6126 {source="MONDO:equivalentTo"}
xref: NCIT:C7489 {source="DOID:6126", source="MONDO:equivalentTo"}
xref: OMIM:105580 {source="DOID:6126", source="MONDO:equivalentTo"}
xref: Orphanet:424013 {source="MONDO:equivalentTo"}
xref: SCTID:285310000 {source="DOID:6126", source="MONDO:equivalentTo"}
is_a: MONDO:0000405 {source="DOID:6126", source="MONDO:Entailed", source="MONDO:Redundant"} ! anal canal cancer
is_a: MONDO:0003199 {source="MONDOLEX:0007108", source="NCIT:C7489", source="linkedlifedata"} ! anal carcinoma
is_a: MONDO:0018516 {source="MONDO:Redundant", source="Orphanet:424013"} ! epithelial tumor of anal canal
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334273
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0563211
property_value: exactMatch DOID:6126
property_value: exactMatch http://identifiers.org/omim/105580
property_value: exactMatch http://identifiers.org/snomedct/285310000
property_value: exactMatch NCIT:C7489
property_value: exactMatch Orphanet:424013

[Term]
id: MONDO:0007109
name: congenital dyserythropoietic anemia type 3
def: "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." [Orphanet:98870]
subset: ordo_disease {source="Orphanet:98870"}
synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600]
synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical, OMIM:105600]
synonym: "anemia, congenital dyserythropoietic, type III; CDAN3" RELATED [OMIM:105600]
synonym: "CDA 3" RELATED [OMIM:105600]
synonym: "CDA III" EXACT [Orphanet:98870]
synonym: "CDA type 3" EXACT [Orphanet:98870]
synonym: "CDA type III" EXACT [Orphanet:98870]
synonym: "CDAN3" RELATED [MONDO:Lexical, OMIM:105600]
synonym: "congenital dyserythropoietic anemia type 3" EXACT [Orphanet:98870]
synonym: "dyserythropoietic anemia, congenital type 3" RELATED [GARD:0002002]
synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [OMIM:105600]
synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600]
xref: GARD:0002002 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D64.4 {source="MONDO:subClassOf", source="ORDO:98870/attributed", source="ORDO:98870/ntbt", source="Orphanet:98870"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:105600 {source="MONDO:equivalentTo", source="ORDO:98870/e", source="Orphanet:98870"}
xref: Orphanet:98870 {source="MONDO:equivalentTo", source="OMIM:105600"}
xref: SCTID:26409005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.58"}
xref: UMLS:C0271934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98870/e", source="Orphanet:98870"}
is_a: MONDO:0019403 {source="DC-OMIM:105600", source="OMIM:105600", source="Orphanet:98870", source="linkedlifedata"} ! congenital dyserythropoietic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1413250
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862933
property_value: exactMatch http://identifiers.org/omim/105600
property_value: exactMatch http://identifiers.org/snomedct/26409005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271934
property_value: exactMatch Orphanet:98870

[Term]
id: MONDO:0007110
name: Diamond-Blackfan anemia 1
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Aase syndrome" RELATED [OMIM:105650]
synonym: "Aase-Smith syndrome 2" RELATED [OMIM:105650]
synonym: "anemia, congenital erythroid hypoplastic" RELATED [OMIM:105650]
synonym: "anemia, congenital hypoplastic, of Blackfan and Diamond" RELATED [OMIM:105650]
synonym: "aregenerative Anemia, chronic congenital" RELATED [OMIM:105650]
synonym: "Blackfan-Diamond syndrome" RELATED [OMIM:105650]
synonym: "DBA" BROAD [OMIM:105650]
synonym: "DBA1" RELATED [MONDO:Lexical, OMIM:105650]
synonym: "Diamond-Blackfan anemia 1" EXACT [MONDO:Lexical, OMIM:105650]
synonym: "Diamond-Blackfan anemia 1; DBA1" RELATED [OMIM:105650]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS19" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1, OMIM:105650]
synonym: "erythrogenesis imperfecta" RELATED [OMIM:105650]
synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650]
synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:105650 {source="MONDO:equivalentTo"}
xref: UMLS:C2676137 {source="OMIM:105650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:105650", source="MONDO:Redundant", source="MONDOLEX:0007110", source="OMIM:105650"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/105650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676137

[Term]
id: MONDO:0007111
name: aneurysm, intracranial berry type 1
synonym: "aneurysm, intracranial berry, 1" RELATED [MONDO:Lexical, OMIM:105800]
synonym: "aneurysm, intracranial berry, 1; ANIB1" RELATED [OMIM:105800]
synonym: "aneurysmal subarachnoid hemorrhage, familial" RELATED [OMIM:105800]
synonym: "ANIB1" EXACT [MONDO:Lexical, OMIM:105800]
xref: MESH:C566284 {source="MONDO:equivalentTo"}
xref: OMIM:105800 {source="MONDO:equivalentTo"}
xref: UMLS:C1862932 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105800"}
is_a: MONDO:0016483 {source="DC-OMIM:105800", source="OMIM:105800"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C566284
property_value: exactMatch http://identifiers.org/omim/105800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862932

[Term]
id: MONDO:0007112
name: interventricular septum aneurysm
def: "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." [Orphanet:99092]
subset: ordo_morphological_anomaly {source="Orphanet:99092"}
synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805]
xref: ICD10:Q21.0 {source="Orphanet:99092", source="ORDO:99092/attributed", source="ORDO:99092/ntbt"}
xref: MESH:C563239 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105805 {source="ORDO:99092/e", source="Orphanet:99092", source="MONDO:equivalentTo"}
xref: Orphanet:99092 {source="MONDO:equivalentTo", source="OMIM:105805"}
xref: UMLS:C1387721 {source="Orphanet:99092", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105805"}
is_a: MONDO:0018771 {source="Orphanet:99092"} ! congenital anomaly of ventricular septum
property_value: exactMatch http://identifiers.org/mesh/C563239
property_value: exactMatch http://identifiers.org/omim/105805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1387721
property_value: exactMatch Orphanet:99092

[Term]
id: MONDO:0007113
name: Angelman syndrome
def: "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." [Orphanet:72]
subset: ordo_malformation_syndrome {source="Orphanet:72"}
synonym: "Angelman syndrome" EXACT [MONDO:Lexical, OMIM:105830]
synonym: "Angelman syndrome chromosome region" RELATED [OMIM:105830]
synonym: "Angelman syndrome; AS" RELATED [OMIM:105830]
synonym: "AS" RELATED [MONDO:Lexical, OMIM:105830]
synonym: "happy puppet syndrome" EXACT DEPRECATED [DOID:1932, OMIM:105830]
synonym: "happy puppet syndrome (formerly)" RELATED DEPRECATED [GARD:0005810]
synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [OMIM:105830]
synonym: "puppetlike syndrome" EXACT DEPRECATED [CSP2005:4008-0043, DOID:1932]
xref: DOID:1932 {source="MONDO:equivalentTo"}
xref: GARD:0005810 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:72/inclusion", source="DOID:1932", source="Orphanet:72", source="ORDO:72/ntbt"}
xref: ICD10:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049004 {source="Orphanet:72", source="ORDO:72/e"}
xref: MESH:C531619 {source="MONDO:equivalentTo"}
xref: MESH:D017204 {source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"}
xref: NCIT:C75462 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1932"}
xref: OMIM:105830 {source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"}
xref: Orphanet:72 {source="MONDO:equivalentTo", source="OMIM:105830"}
xref: SCTID:76880004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1932"}
xref: UMLS:C0162635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105830", source="NCIT:C75462", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"}
is_a: MONDO:0000508 {source="Orphanet:72"} ! syndromic intellectual disability
is_a: MONDO:0015652 {source="Orphanet:72", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0020016 {source="Orphanet:72"} ! rare neurologic disease with psychiatric involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412397
property_value: exactMatch DOID:1932
property_value: exactMatch http://identifiers.org/meddra/10049004
property_value: exactMatch http://identifiers.org/mesh/C531619
property_value: exactMatch http://identifiers.org/mesh/D017204
property_value: exactMatch http://identifiers.org/omim/105830
property_value: exactMatch http://identifiers.org/snomedct/76880004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162635
property_value: exactMatch NCIT:C75462
property_value: exactMatch Orphanet:72

[Term]
id: MONDO:0007114
name: angel-shaped phalango-epiphyseal dysplasia
def: "Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." [Orphanet:63442]
subset: ordo_malformation_syndrome {source="Orphanet:63442"}
synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671]
synonym: "ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:105835]
synonym: "ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia; ASPED" RELATED [OMIM:105835]
synonym: "ASPED" EXACT [MONDO:Lexical, OMIM:105835, Orphanet:63442]
xref: GARD:0000671 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="Orphanet:63442", source="ORDO:63442/attributed", source="ORDO:63442/ntbt"}
xref: MedDRA:10066017 {source="Orphanet:63442", source="ORDO:63442/e"}
xref: MESH:C536361 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="ORDO:63442/e"}
xref: Orphanet:63442 {source="MONDO:equivalentTo", source="OMIM:105835"}
xref: SCTID:720984008 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
is_a: MONDO:0019695 {source="Orphanet:63442"} ! acromelic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1739384
property_value: exactMatch http://identifiers.org/meddra/10066017
property_value: exactMatch http://identifiers.org/mesh/C536361
property_value: exactMatch http://identifiers.org/omim/105835
property_value: exactMatch http://identifiers.org/snomedct/720984008
property_value: exactMatch Orphanet:63442

[Term]
id: MONDO:0007115
name: angioma serpiginosum, autosomal dominant
subset: gard_rare {source="GARD:0010189"}
synonym: "angioma serpiginosum, autosomal dominant" EXACT [OMIM:106050]
synonym: "autosomal dominant angioma serpiginosum" RELATED [GARD:0010189]
xref: GARD:0010189 {source="MONDO:equivalentTo"}
xref: MESH:C536365 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106050 {source="MONDO:equivalentTo"}
xref: UMLS:C1970130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:106050"}
is_a: MONDO:0019803 {source="DC-OMIM:106050"} ! angioma serpiginosum
property_value: exactMatch http://identifiers.org/mesh/C536365
property_value: exactMatch http://identifiers.org/omim/106050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970130
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant xsd:anyURI {source="GARD:0010189"}

[Term]
id: MONDO:0007116
name: hereditary neurocutaneous angioma
def: "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." [Orphanet:1062]
subset: ordo_disease {source="Orphanet:1062"}
synonym: "angioma hereditary neurocutaneous" RELATED [GARD:0000676]
synonym: "angioma, hereditary neurocutaneous" RELATED [OMIM:106070]
synonym: "hemangiomatosis, disseminated" RELATED [OMIM:106070]
synonym: "hereditary neurocutaneous angioma" RELATED [GARD:0000676]
synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062]
synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070]
xref: GARD:0000676 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D18.0 {source="Orphanet:1062", source="ORDO:1062/attributed", source="ORDO:1062/ntbt"}
xref: OMIM:106070 {source="MONDO:equivalentTo", source="Orphanet:1062", source="ORDO:1062/e"}
xref: Orphanet:1062 {source="MONDO:equivalentTo", source="OMIM:106070"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015145 {source="Orphanet:1062"} ! neurovascular malformation
is_a: MONDO:0015658 {source="Orphanet:1062"} ! cerebral diseases of vascular origin with epilepsy
is_a: MONDO:0015953 {source="Orphanet:1062", source="Orphanet:1062/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018729 {source="MONDO:Redundant", source="Orphanet:1062"} ! genetic vascular tumor
is_a: MONDO:0020063 {source="Orphanet:1062"} ! malformation syndrome with hamartosis
is_a: MONDO:0021211 ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862897
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862898
property_value: exactMatch http://identifiers.org/mesh/C536364
property_value: exactMatch http://identifiers.org/omim/106070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275084
property_value: exactMatch Orphanet:1062

[Term]
id: MONDO:0007117
name: obsolete angioedema, hereditary, type 1/2
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1628 xsd:string
is_obsolete: true
replaced_by: MONDO:0033946

[Term]
id: MONDO:0007118
name: isolated anhidrosis with normal sweat glands
def: "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:468666"}
synonym: "ANHD" RELATED [MONDO:Lexical, OMIM:106190]
synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern]
synonym: "anhidrosis, isolated, with normal sweat glands" RELATED [MONDO:Lexical, OMIM:106190]
synonym: "anhidrosis, isolated, with normal sweat glands; ANHD" RELATED [OMIM:106190]
synonym: "Dann-Epstein-Sohar syndrome" EXACT [DOID:0060603, OMIM:106190]
synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666]
synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060603 {source="MONDO:equivalentTo"}
xref: OMIM:106190 {source="Orphanet:468666", source="MONDO:equivalentTo", source="DOID:0060603"}
xref: Orphanet:468666 {source="MONDO:equivalentTo"}
xref: UMLS:C1862871 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:106190"}
is_a: MONDO:0006527 {source="DOID:0060603", source="MONDO:Entailed", source="MONDO:Redundant"} ! anhidrosis
is_a: MONDO:0018798 {source="Orphanet:468666"} ! other genetic dermis disorder
is_a: MONDO:0019296 {source="Orphanet:468666"} ! subcutaneous tissue disease
is_a: MONDO:0021154 {source="Orphanet:468666"} ! dermis disease
property_value: exactMatch DOID:0060603
property_value: exactMatch http://identifiers.org/omim/106190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862871
property_value: exactMatch Orphanet:468666

[Term]
id: MONDO:0007119
name: isolated aniridia
def: "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." [Orphanet:250923]
subset: ordo_morphological_anomaly {source="Orphanet:250923"}
subset: prototype_pattern
synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK1360/]
synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q13.1 {source="ORDO:250923/attributed", source="ORDO:250923/ntbt", source="Orphanet:250923"}
xref: OMIMPS:106210 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"}
is_a: MONDO:0015217 {source="MONDO:Redundant", source="Orphanet:250923", source="Orphanet:250923/inferred"} ! non-syndromic developmental defect of the eye
is_a: MONDO:0019172 {source="DC-OMIM:106210", source="MONDO:Redundant", source="Orphanet:250923"} ! aniridia
intersection_of: MONDO:0019172 ! aniridia
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:250923

[Term]
id: MONDO:0007120
name: aniridia-absent patella syndrome
def: "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." [Orphanet:1069]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1069"}
synonym: "aniridia absent patella" RELATED [GARD:0000685]
synonym: "aniridia and absent patella" RELATED [OMIM:106220]
synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685]
xref: GARD:0000685 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1069", source="ORDO:1069/attributed", source="ORDO:1069/ntbt"}
xref: MESH:C566281 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106220 {source="ORDO:1069/e", source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo"}
xref: Orphanet:1069 {source="OMIM:106220", source="GARD:0000685", source="MONDO:equivalentTo"}
xref: UMLS:C1862868 {source="OMIM:106220", source="GARD:0000685", source="NCBI:mim2gene_medline", source="Orphanet:1069", source="MONDO:equivalentTo"}
is_a: MONDO:0020148 {source="Orphanet:1069"} ! syndromic aniridia
property_value: exactMatch http://identifiers.org/mesh/C566281
property_value: exactMatch http://identifiers.org/omim/106220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862868
property_value: exactMatch Orphanet:1069
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella xsd:anyURI {source="GARD:0000685"}

[Term]
id: MONDO:0007121
name: aniridia, microcornea, and spontaneously Reabsorbed cataract
synonym: "aniridia, microcornea, and spontaneously Reabsorbed cataract" EXACT [OMIM:106230]
xref: MESH:C566280 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106230 {source="MONDO:equivalentTo"}
xref: UMLS:C1862867 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:106230"}
is_a: MONDO:0003847 {source="MESH:C566280/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566280
property_value: exactMatch http://identifiers.org/omim/106230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862867

[Term]
id: MONDO:0007122
name: anisocoria (disease)
def: "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." [MESH:D015875]
synonym: "anisocoria" EXACT [MONDO:ambiguous, OMIM:106240]
xref: COHD:434374 {source="MONDO:equivalentTo"}
xref: HP:0009916 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:379.41 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D015875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106240 {source="MONDO:equivalentTo"}
xref: SCTID:13045009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003079
property_value: exactMatch http://identifiers.org/mesh/D015875
property_value: exactMatch http://identifiers.org/omim/106240
property_value: exactMatch http://identifiers.org/snomedct/13045009

[Term]
id: MONDO:0007123
name: ankyloblepharon filiforme adnatum-cleft palate syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1072"}
synonym: "AFA" RELATED [MONDO:Lexical, OMIM:106250]
synonym: "ankyloblepharon filiforme adnatum" EXACT [Orphanet:1072]
synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lexical, OMIM:106250]
synonym: "ankyloblepharon filiforme adnatum and cleft palate; AFA" RELATED [OMIM:106250]
synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696]
synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696]
synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696]
xref: GARD:0000696 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:1072/attributed", source="ORDO:1072/ntbt", source="Orphanet:1072"}
xref: MESH:C536373 {source="MONDO:equivalentTo", source="ORDO:1072/e", source="MONDO:ontobio", source="Orphanet:1072"}
xref: OMIM:106250 {source="MONDO:equivalentTo", source="ORDO:1072/e", source="Orphanet:1072"}
xref: Orphanet:1072 {source="MONDO:equivalentTo", source="OMIM:106250"}
xref: SCTID:400952003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1302999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1072"}
is_a: MONDO:0015218 {source="Orphanet:1072"} ! syndromic developmental defect of the eye
is_a: MONDO:0015335 {source="Orphanet:1072"} ! orofacial clefting syndrome
is_a: MONDO:0020156 {source="Orphanet:1072"} ! syndromic ankyloblepharon
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862866
property_value: exactMatch http://identifiers.org/mesh/C536373
property_value: exactMatch http://identifiers.org/omim/106250
property_value: exactMatch http://identifiers.org/snomedct/400952003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302999
property_value: exactMatch Orphanet:1072

[Term]
id: MONDO:0007124
name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
def: "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." [Orphanet:1071]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1071"}
synonym: "AEC syndrome" EXACT [DOID:0090119, Orphanet:1071]
synonym: "Aec syndrome" RELATED [OMIM:106260]
synonym: "ankyloblepharon ectodermal defects cleft lip/palate" RELATED [GARD:0006571]
synonym: "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" EXACT [DOID:0090119]
synonym: "ankyloblepharon-ectodermal defects-cleft LIP/palate" RELATED [OMIM:106260]
synonym: "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" RELATED [GARD:0004805]
synonym: "hay-Wells syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071]
synonym: "Rapp-Hodgkins syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome, MONDO:cjm]
synonym: "Seres-Santamaria Arimany Muniz syndrome" RELATED [GARD:0004805]
xref: DOID:0090119 {source="MONDO:equivalentTo"}
xref: GARD:0004805 {source="MONDO:equivalentTo"}
xref: GARD:0006571 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.4 {source="ORDO:1071/attributed", source="ORDO:1071/ntbt", source="Orphanet:1071", source="DOID:0090119"}
xref: MESH:C535847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106260 {source="MONDO:equivalentTo", source="Orphanet:1071", source="GARD:0004805", source="ORDO:1071/e", source="DOID:0090119"}
xref: Orphanet:1071 {source="MONDO:equivalentTo", source="DOID:0090119", source="OMIM:106260"}
xref: SCTID:55821006 {source="MONDO:kboom-pr-1.00/0.80/9.17", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:1071"} ! syndromic developmental defect of the eye
is_a: MONDO:0015501 {source="Orphanet:1071"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0017432 {source="Orphanet:1071"} ! syndrome with limb reduction defects
is_a: MONDO:0018236 ! dysostosis with limb and face anomalies as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020156 {source="Orphanet:1071"} ! syndromic ankyloblepharon
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406709
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931539
property_value: exactMatch DOID:0090119
property_value: exactMatch http://identifiers.org/mesh/C535847
property_value: exactMatch http://identifiers.org/omim/106260
property_value: exactMatch http://identifiers.org/snomedct/55821006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1785148
property_value: exactMatch Orphanet:1071

[Term]
id: MONDO:0007125
name: ankyloglossia
def: "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." [NCIT:C124538]
synonym: "'tongue-Tie'" RELATED [OMIM:106280]
synonym: "ankyloglossia" EXACT [OMIM:106280]
synonym: "FUSED to floor of mouth" EXACT [NCIT:C124538]
synonym: "tongue-tie" EXACT [DOID:0060604]
xref: DOID:0060604 {source="MONDO:equivalentTo"}
xref: ICD10:Q38.1 {source="MONDO:equivalentTo", source="DOID:0060604"}
xref: ICD9:750.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562396 {source="MONDO:equivalentTo", source="DOID:0060604", source="MONDO:ontobio"}
xref: NCIT:C124538 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:106280 {source="MONDO:equivalentTo", source="DOID:0060604"}
xref: SCTID:67787004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0001165 {source="DOID:0060604", source="linkedlifedata", source="linkedlifedata/inferred"} ! tongue disease
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152415
property_value: exactMatch DOID:0060604
property_value: exactMatch http://identifiers.org/mesh/C562396
property_value: exactMatch http://identifiers.org/omim/106280
property_value: exactMatch http://identifiers.org/snomedct/67787004
property_value: exactMatch NCIT:C124538

[Term]
id: MONDO:0007126
name: spondyloarthropathy, susceptibility to, 1
def: "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ankylosing spondylitis, susceptibility to" RELATED [OMIM:106300]
synonym: "Bechterew syndrome" RELATED [OMIM:106300]
synonym: "HLA-B spondyloarthropathy, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Marie-Strumpell spondylitis" RELATED [OMIM:106300]
synonym: "SPDA1" RELATED [MONDO:Lexical, OMIM:106300]
synonym: "spondyloarthropathy, susceptibility to caused by mutation in HLA-B" EXACT [MONDO:design_pattern]
synonym: "spondyloarthropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:106300]
synonym: "spondyloarthropathy, susceptibility to, 1; SPDA1" RELATED [OMIM:106300]
synonym: "spondyloarthropathy, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:106300]
synonym: "susceptibility to spondyloarthropathy 1" RELATED [OMIM:106300]
xref: OMIM:106300 {source="MONDO:equivalentTo"}
is_a: MONDO:0024512 {source="MONDO:Redundant", source="MONDOLEX:0007126", source="OMIM:106300"} ! spondyloarthropathy, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038013
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862852
property_value: closeMatch Orphanet:825
property_value: exactMatch http://identifiers.org/omim/106300

[Term]
id: MONDO:0007127
name: diffuse idiopathic skeletal hyperostosis
def: "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." [Orphanet:2206]
subset: ordo_malformation_syndrome {source="Orphanet:2206"}
synonym: "ankylosing vertebral hyperostosis" EXACT [DOID:6652, ICD9CM_2006:721.6]
synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [OMIM:106400]
synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [OMIM:106400]
synonym: "dish" EXACT [DOID:6652]
synonym: "disseminated idiopathic skeletal hyperostosis" EXACT [DOID:6652]
synonym: "Forestier disease" RELATED [DOID:6652]
synonym: "Forestier's disease" EXACT [NCIT:C84671]
xref: COHD:77961 {source="MONDO:equivalentTo"}
xref: DOID:6652 {source="EFO:0007236", source="MONDO:equivalentTo"}
xref: EFO:0007236 {source="MONDO:equivalentTo"}
xref: GARD:0000842 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M48.1 {source="DOID:6652", source="ORDO:2206/attributed", source="ORDO:2206/ntbt", source="Orphanet:2206"}
xref: ICD9:721.6 {source="DOID:6652", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004057 {source="EFO:0007236", source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84671 {source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:106400 {source="DOID:6652", source="MONDO:equivalentTo", source="ORDO:2206/e", source="Orphanet:2206"}
xref: Orphanet:2206 {source="OMIM:106400", source="MONDO:equivalentTo"}
xref: SCTID:31487001 {source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0020498 {source="DOID:6652", source="OMIM:106400", source="MONDO:equivalentTo", source="NCIT:C84671"}
is_a: MONDO:0002185 {source="MESH:D004057", source="NCIT:C84671", source="linkedlifedata"} ! hyperostosis
is_a: MONDO:0019711 {source="Orphanet:2206"} ! dysostosis with predominant vertebral and costal involvement
relationship: excluded_subClassOf MONDO:0002123 {source="DOID:6652"} ! calcinosis
property_value: closeMatch http://identifiers.org/snomedct/55815007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862851
property_value: exactMatch DOID:6652
property_value: exactMatch http://identifiers.org/mesh/D004057
property_value: exactMatch http://identifiers.org/omim/106400
property_value: exactMatch http://identifiers.org/snomedct/31487001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020498
property_value: exactMatch NCIT:C84671
property_value: exactMatch Orphanet:2206

[Term]
id: MONDO:0007128
name: annular erythema
synonym: "annular erythema" EXACT [OMIM:106500]
xref: MESH:C562461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106500 {source="MONDO:equivalentTo"}
xref: SCTID:200920000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0234906 {source="OMIM:106500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562461/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562461
property_value: exactMatch http://identifiers.org/omim/106500
property_value: exactMatch http://identifiers.org/snomedct/200920000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234906

[Term]
id: MONDO:0007129
name: tooth agenesis, selective, 1
def: "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypodontia/oligodontia 1" RELATED [OMIM:106600]
synonym: "hypodontia/oligodontia with orofacial cleft" RELATED [OMIM:106600]
synonym: "MSX1 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "second premolars and third molars, absence of" RELATED [OMIM:106600]
synonym: "STHAG1" RELATED [MONDO:Lexical, OMIM:106600]
synonym: "tooth agenesis caused by mutation in MSX1" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, familial" RELATED [OMIM:106600]
synonym: "tooth agenesis, selective, 1" EXACT [MONDO:Lexical, OMIM:106600]
synonym: "tooth agenesis, selective, 1; STHAG1" RELATED [OMIM:106600]
synonym: "tooth agenesis, selective, type 1" EXACT [MONDORULE:1, OMIM:106600]
synonym: "tooth agenesis, selective, with orofacial cleft" RELATED [OMIM:106600]
xref: OMIM:106600 {source="MONDO:equivalentTo"}
is_a: MONDO:0005486 {source="DC-OMIM:106600", source="MONDO:Redundant", source="OMIM:106600"} ! tooth agenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970118
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489529
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/omim/106600

[Term]
id: MONDO:0007130
name: congenital total pulmonary venous return anomaly
def: "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return (see this term)where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." [Orphanet:99125]
subset: ordo_morphological_anomaly {source="Orphanet:99125"}
synonym: "anomalous pulmonary Venous return" RELATED [OMIM:106700]
synonym: "pulmonary venolobar syndrome" EXACT [DOID:4297]
synonym: "scimitar anomaly" RELATED [OMIM:106700]
synonym: "scimitar syndrome" RELATED [DOID:4297]
synonym: "TAPVR" EXACT [NCIT:C98585]
synonym: "TAPVR1" RELATED [MONDO:Lexical, OMIM:106700]
synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297]
synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical, OMIM:106700]
synonym: "total anomalous pulmonary VENOUS return 1; TAPVR1" RELATED [OMIM:106700]
xref: COHD:432432 {source="MONDO:equivalentTo"}
xref: DOID:4297 {source="EFO:1001167", source="MONDO:equivalentTo"}
xref: EFO:1001167 {source="MONDO:equivalentTo"}
xref: ICD10:Q26.2 {source="Orphanet:99125", source="ORDO:99125/e", source="DOID:4297"}
xref: ICD10:Q26.8 {source="DOID:4297"}
xref: ICD9:747.41 {source="MONDO:equivalentTo", source="i2s", source="DOID:4297"}
xref: NCIT:C98585 {source="MONDO:equivalentTo", source="DOID:4297", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:106700 {source="Orphanet:99125", source="MONDO:equivalentTo", source="ORDO:99125/e", source="DOID:4297"}
xref: Orphanet:99125 {source="MONDO:equivalentTo", source="OMIM:106700"}
xref: SCTID:111323005 {source="MONDO:equivalentTo", source="DOID:4297", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017705 {source="Orphanet:99125"} ! congenital pulmonary venous return anomaly
property_value: closeMatch http://identifiers.org/snomedct/204458000
property_value: exactMatch DOID:4297
property_value: exactMatch http://identifiers.org/omim/106700
property_value: exactMatch http://identifiers.org/snomedct/111323005
property_value: exactMatch NCIT:C98585
property_value: exactMatch Orphanet:99125

[Term]
id: MONDO:0007131
name: anonychia with flexural pigmentation
def: "Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." [Orphanet:69125]
subset: ordo_malformation_syndrome {source="Orphanet:69125"}
synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750]
xref: MESH:C566278 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106750 {source="MONDO:equivalentTo", source="ORDO:69125/e", source="Orphanet:69125"}
xref: Orphanet:69125 {source="OMIM:106750", source="MONDO:equivalentTo"}
xref: UMLS:C1862844 {source="OMIM:106750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69125"}
is_a: MONDO:0019285 {source="Orphanet:69125"} ! syndromic nail anomaly
is_a: MONDO:0019287 {source="Orphanet:69125"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C566278
property_value: exactMatch http://identifiers.org/omim/106750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862844
property_value: exactMatch Orphanet:69125

[Term]
id: MONDO:0007132
name: anonychia-ectrodactyly
subset: gard_rare {source="GARD:0000708"}
synonym: "anonychia ectrodactyly" RELATED [GARD:0000708]
synonym: "anonychia-ectrodactyly" EXACT [OMIM:106900]
xref: GARD:0000708 {source="MONDO:equivalentTo"}
xref: MESH:C566277 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106900 {source="MONDO:equivalentTo"}
xref: UMLS:C1862843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:106900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566277
property_value: exactMatch http://identifiers.org/omim/106900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862843
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly xsd:anyURI {source="GARD:0000708"}

[Term]
id: MONDO:0007133
name: anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
subset: gard_rare {source="GARD:0000711"}
synonym: "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" EXACT [OMIM:106990]
synonym: "autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly" RELATED [GARD:0000711]
synonym: "Kumar-Levick syndrome" EXACT [Orphanet:2355]
xref: GARD:0000711 {source="MONDO:equivalentTo"}
xref: MESH:C536379 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106990 {source="MONDO:equivalentTo"}
xref: Orphanet:2355 {source="OMIM:106990", source="MONDO:equivalentTo"}
xref: UMLS:C1862842 {source="OMIM:106990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536379
property_value: exactMatch http://identifiers.org/omim/106990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862842
property_value: exactMatch Orphanet:2355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly xsd:anyURI {source="GARD:0000711"}

[Term]
id: MONDO:0007134
name: Cooks syndrome
def: "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." [Orphanet:1487]
subset: ordo_malformation_syndrome {source="Orphanet:1487"}
synonym: "anonychia and absence/hypoplasia of distal phalanges" RELATED [GARD:0004083]
synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [OMIM:106995]
synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" EXACT [Orphanet:1487]
synonym: "Cooks syndrome" EXACT [OMIM:106995]
synonym: "ODP" EXACT [Orphanet:1487]
xref: GARD:0004083 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q84.6 {source="Orphanet:1487", source="ORDO:1487/attributed", source="ORDO:1487/ntbt"}
xref: MESH:C537766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:106995 {source="ORDO:1487/e", source="Orphanet:1487", source="MONDO:equivalentTo"}
xref: Orphanet:1487 {source="OMIM:106995", source="MONDO:equivalentTo"}
xref: SCTID:720747002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1862841 {source="MEDGEN:kboom-pr97-c99", source="OMIM:106995", source="NCBI:mim2gene_medline", source="Orphanet:1487", source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:1487", source="Orphanet:1487/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019285 {source="Orphanet:1487"} ! syndromic nail anomaly
property_value: exactMatch http://identifiers.org/mesh/C537766
property_value: exactMatch http://identifiers.org/omim/106995
property_value: exactMatch http://identifiers.org/snomedct/720747002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862841
property_value: exactMatch Orphanet:1487

[Term]
id: MONDO:0007135
name: nonsyndromic congenital nail disorder 6
synonym: "absent nails and dystrophic nails" RELATED [GARD:0000710]
synonym: "anonychia, partial" RELATED [OMIM:107000]
synonym: "anonychia/hyponychia and onychodystrophy" RELATED [OMIM:107000]
synonym: "nail disorder, nonsyndromic congenital, 6" RELATED [MONDO:Lexical, OMIM:107000]
synonym: "nail disorder, nonsyndromic congenital, 6; NDNC6" RELATED [OMIM:107000]
synonym: "NDNC6" RELATED [MONDO:Lexical, OMIM:107000]
synonym: "nonsyndromic congenital nail disorder type 6" EXACT [DOID:0080084, MONDORULE:1]
synonym: "onychodystrophy-anonychia" RELATED [GARD:0000710]
xref: DOID:0080084 {source="MONDO:equivalentTo"}
xref: GARD:0000710 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:107000 {source="MONDO:equivalentTo", source="DOID:0080084"}
is_a: MONDO:0019211 {source="ORDO:79143/btnt"} ! isolated congenital anonychia
relationship: excluded_subClassOf MONDO:0019577 {source="ORDO:90390/btnt"} ! anonychia-onychodystrophy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275544
property_value: exactMatch DOID:0080084
property_value: exactMatch http://identifiers.org/omim/107000

[Term]
id: MONDO:0007136
name: genetic anorectal anomalies
subset: prototype_pattern
synonym: "anorectal anomalies" RELATED [OMIM:107100]
xref: MESH:C567938 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:107100 {source="MONDO:equivalentTo"}
is_a: MONDO:0018916 {source="Orphanet:557"} ! isolated anorectal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266215
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495676
property_value: exactMatch http://identifiers.org/mesh/C567938
property_value: exactMatch http://identifiers.org/omim/107100

[Term]
id: MONDO:0007137
name: isolated congenital anosmia
def: "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term)." [Orphanet:88620]
subset: ordo_disease {source="Orphanet:88620"}
synonym: "ANIC" RELATED [MONDO:Lexical, OMIM:107200]
synonym: "anosmia, congenital" RELATED [OMIM:107200]
synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200]
synonym: "anosmia, isolated congenital; ANIC" RELATED [OMIM:107200]
synonym: "congenital anosmia" RELATED [GARD:0009486]
xref: GARD:0009486 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q07.8 {source="Orphanet:88620", source="ORDO:88620/attributed", source="ORDO:88620/ntbt"}
xref: MESH:C535983 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="ORDO:88620/e"}
xref: Orphanet:88620 {source="OMIM:107200", source="MONDO:equivalentTo"}
xref: SCTID:230502003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0018751 {source="MONDO:Redundant", source="Orphanet:88620"} ! genetic otorhinolaryngologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393778
property_value: exactMatch http://identifiers.org/mesh/C535983
property_value: exactMatch http://identifiers.org/omim/107200
property_value: exactMatch http://identifiers.org/snomedct/230502003
property_value: exactMatch Orphanet:88620

[Term]
id: MONDO:0007138
name: anterior segment dysgenesis 1
synonym: "anterior segment dysgenesis 1; ASGD1" RELATED [OMIM:107250]
synonym: "anterior segment mesenchymal dysgenesis" RELATED [MONDO:Lexical, OMIM:107250]
synonym: "anterior segment mesenchymal dysgenesis; ASMD" RELATED [OMIM:107250]
synonym: "anterior segment ocular dysgenesis" RELATED [OMIM:107250]
synonym: "ASGD1" RELATED [OMIM:107250]
synonym: "ASMD" RELATED [MONDO:Lexical, OMIM:107250]
xref: DOID:0060605 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="DOID:0060605"}
xref: OMIM:107250 {source="MONDO:equivalentTo", source="DOID:0060605"}
xref: UMLS:C1862839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:107250"}
is_a: MONDO:0019503 {source="DC-OMIM:107250", source="OMIM:107250"} ! anterior segment dysgenesis
property_value: exactMatch DOID:0060605
property_value: exactMatch http://identifiers.org/omim/107250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862839

[Term]
id: MONDO:0007139
name: Antipyrine metabolism
synonym: "antipyrine metabolism" EXACT [OMIM:107290]
xref: OMIM:107290 {source="MONDO:equivalentTo"}
xref: UMLS:C1862824 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:107290"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/107290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862824

[Term]
id: MONDO:0007140
name: antiphospholipid syndrome
def: "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." [NCIT:C61283]
synonym: "antiphospholipid antibody syndrome" EXACT [CSP2005:5002-0009, DOID:2988]
synonym: "antiphospholipid syndrome" EXACT [DOID:2988]
synonym: "antiphospholipid syndrome, familial" RELATED [OMIM:107320]
synonym: "familial antiphospholipid syndrome" RELATED [GARD:0005824]
synonym: "Hughes syndrome" RELATED [GARD:0005824]
synonym: "lupus anticoagulant, familial" RELATED [OMIM:107320]
xref: DOID:2988 {source="MONDO:equivalentTo"}
xref: GARD:0005824 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D68.61 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016736 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: NCIT:C61283 {source="MONDO:equivalentTo", source="DOID:2988", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:107320 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: SCTID:26843008 {source="MONDO:equivalentTo", source="DOID:2988", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61283", source="DOID:2988"}
is_a: MONDO:0002254 {source="MONDOLEX:0007140", source="NCIT:C61283"} ! syndromic disease
is_a: MONDO:0007179 {source="DOID:2988", source="MESH:D016736", source="linkedlifedata"} ! autoimmune disease
property_value: closeMatch http://identifiers.org/snomedct/19267009
property_value: closeMatch http://identifiers.org/snomedct/201450008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930802
property_value: closeMatch Orphanet:80
property_value: exactMatch DOID:2988
property_value: exactMatch http://identifiers.org/mesh/D016736
property_value: exactMatch http://identifiers.org/omim/107320
property_value: exactMatch http://identifiers.org/snomedct/26843008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085278
property_value: exactMatch NCIT:C61283

[Term]
id: MONDO:0007141
name: antiviral state repressor, regulator of
synonym: "antiviral state repressor, regulator of" EXACT [MONDO:Lexical, OMIM:107440]
synonym: "antiviral STATE repressor, regulator OF; AVRR" RELATED [OMIM:107440]
synonym: "AVRR" RELATED [MONDO:Lexical, OMIM:107440]
xref: OMIM:107440 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862714
property_value: exactMatch http://identifiers.org/omim/107440

[Term]
id: MONDO:0007142
name: Townes-Brocks syndrome
def: "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." [Orphanet:857]
subset: gard_rare {source="GARD:0007784"}
subset: ordo_malformation_syndrome {source="Orphanet:857"}
subset: prototype_pattern
synonym: "anus, imperforate, with hand, foot and ear anomalies" RELATED [GARD:0007784]
synonym: "anus, imperforate, with hand, foot, and Ear anomalies" RELATED [OMIM:107480]
synonym: "deafness, sensorineural, with imperforate anus and hypoplastic thumbs" RELATED [GARD:0007784]
synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480]
synonym: "imperforate anus with hand, foot and ear anomalies" EXACT [Orphanet:857]
synonym: "rear syndrome" EXACT [Orphanet:857]
synonym: "renal-Ear-anal-radial syndrome" RELATED [OMIM:107480]
synonym: "renal-ear-anal-radial syndrome" EXACT [Orphanet:857]
synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [Orphanet:857]
synonym: "TBS" EXACT [MONDO:Lexical, OMIM:107480, Orphanet:857]
synonym: "TBS1" RELATED [OMIM:107480]
synonym: "Townes syndrome" EXACT [Orphanet:857]
synonym: "Townes-Brocks syndrome" EXACT [MONDO:Lexical, OMIM:107480]
synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480]
synonym: "Townes-Brocks syndrome 1; TBS1" RELATED [OMIM:107480]
synonym: "Townes-Brocks syndrome; TBS" RELATED [OMIM:107480]
synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480]
xref: DOID:0050887 {source="MONDO:equivalentTo"}
xref: GARD:0007784 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:857", source="ORDO:857/attributed", source="ORDO:857/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536974 {source="ORDO:857/e", source="MONDO:equivalentTo", source="Orphanet:857"}
xref: NCIT:C99085 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:107480 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:857 {source="MONDO:equivalentTo", source="OMIM:107480"}
xref: SCTID:24750000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265246 {source="NCIT:C99085", source="ORDO:857/e", source="MONDO:equivalentTo", source="Orphanet:857", source="OMIM:107480"}
xref: UMLS:CN034849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0050887", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015246 {source="Orphanet:857"} ! syndromic anorectal malformation
is_a: MONDO:0015334 {source="Orphanet:857"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015495 {source="Orphanet:857"} ! otomandibular dysplasia associated with monogenic syndromes
is_a: MONDO:0017434 {source="Orphanet:857"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:857"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:857"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:857"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862683
property_value: exactMatch DOID:0050887
property_value: exactMatch http://identifiers.org/mesh/C536974
property_value: exactMatch http://identifiers.org/omim/107480
property_value: exactMatch http://identifiers.org/snomedct/24750000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265246
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034849
property_value: exactMatch NCIT:C99085
property_value: exactMatch Orphanet:857
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome xsd:anyURI {source="GARD:0007784"}

[Term]
id: MONDO:0007143
name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
def: "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." [Orphanet:1110]
subset: ordo_malformation_syndrome {source="Orphanet:1110"}
synonym: "aortic arch anomaly - peculiar facies - intellectual disability" RELATED [GARD:0000739]
synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED [OMIM:107500]
synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739]
synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739]
xref: GARD:0000739 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1110", source="ORDO:1110/attributed", source="ORDO:1110/ntbt"}
xref: MESH:C537785 {source="Orphanet:1110", source="ORDO:1110/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:107500 {source="Orphanet:1110", source="ORDO:1110/e", source="MONDO:equivalentTo"}
xref: Orphanet:1110 {source="OMIM:107500", source="MONDO:equivalentTo"}
xref: UMLS:C1862682 {source="Orphanet:1110", source="ORDO:1110/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:107500", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1110", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1110"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537785
property_value: exactMatch http://identifiers.org/omim/107500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862682
property_value: exactMatch Orphanet:1110

[Term]
id: MONDO:0007144
name: aortic arch interruption, facial palsy, and retinal coloboma
synonym: "aortic arch interruption, facial palsy, and retinal coloboma" EXACT [OMIM:107550]
xref: MESH:C566271 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:107550 {source="MONDO:equivalentTo"}
xref: UMLS:C1862681 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:107550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566271
property_value: exactMatch http://identifiers.org/omim/107550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862681

[Term]
id: MONDO:0007145
name: aplasia cutis congenita (disease)
def: "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." [Orphanet:1114]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1114"}
synonym: "ACC" RELATED [MONDO:Lexical, OMIM:107600]
synonym: "aplasia cutis congenita" EXACT [MONDO:ambiguous]
synonym: "aplasia cutis congenita nonsyndromic" RELATED [GARD:0005835]
synonym: "aplasia cutis congenita recessive" EXACT [GARD:0000755]
synonym: "aplasia cutis congenita, nonsyndromic" RELATED [MONDO:Lexical, OMIM:107600]
synonym: "aplasia cutis congenita, nonsyndromic; ACC" RELATED [OMIM:107600]
synonym: "congenital defect of skull and scalp" RELATED [OMIM:107600]
synonym: "scalp defect congenital" RELATED [GARD:0005835]
synonym: "scalp defect, congenital" RELATED [OMIM:107600]
xref: GARD:0000755 {source="MONDO:equivalentTo"}
xref: GARD:0005835 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0001057 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q84.8 {source="Orphanet:1114", source="ORDO:1114/attributed", source="ORDO:1114/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98822 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:107600 {source="Orphanet:1114", source="ORDO:1114/e", source="MONDO:equivalentTo"}
xref: Orphanet:1114 {source="OMIM:107600", source="MONDO:equivalentTo"}
xref: SCTID:35484002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0019294 {source="Orphanet:1114"} ! mixed dermis disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282160
property_value: exactMatch http://identifiers.org/omim/107600
property_value: exactMatch http://identifiers.org/snomedct/35484002
property_value: exactMatch NCIT:C98822
property_value: exactMatch Orphanet:1114

[Term]
id: MONDO:0007146
name: obsolete apnea, central sleep
is_obsolete: true
replaced_by: MONDO:0008807

[Term]
id: MONDO:0007147
name: obstructive sleep apnea syndrome
def: "Cessation of air flow during sleep due to upper airway obstruction." [NCIT:P378]
synonym: "apnea, obstructive sleep" RELATED [MESH:D020181, OMIM:107650]
synonym: "Apneas, obstructive sleep" RELATED [MESH:D020181]
synonym: "obstructive sleep apnea" EXACT [MESH:D020181, MONDO:ambiguous]
synonym: "obstructive sleep apnea syndrome" EXACT [DOID:0050848, MESH:D020181, OMIM:107650]
synonym: "obstructive sleep Apneas" RELATED [MESH:D020181]
synonym: "Osa" RELATED [OMIM:107650]
synonym: "OSAHS" RELATED [MESH:D020181]
synonym: "sleep apnea hypopnea syndrome" RELATED [MESH:D020181]
synonym: "sleep apnea syndrome, obstructive" RELATED [MESH:D020181]
synonym: "sleep apnea/hypopnea syndrome" RELATED [OMIM:107650]
synonym: "sleep Apneas, obstructive" RELATED [MESH:D020181]
synonym: "syndrome, obstructive sleep apnea" RELATED [MESH:D020181]
synonym: "syndrome, sleep apnea, obstructive" RELATED [MESH:D020181]
synonym: "syndrome, upper airway resistance, sleep apnea" RELATED [MESH:D020181]
synonym: "upper airway resistance sleep apnea syndrome" RELATED [MESH:D020181]
xref: DOID:0050848 {source="EFO:0003918", source="MONDO:equivalentTo"}
xref: EFO:0003918 {source="MONDO:equivalentTo"}
xref: HP:0002870 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G47.3 {source="MONDO:subClassOf", source="DOID:0050848"}
xref: ICD10:G47.30 {source="DOID:0050848"}
xref: ICD10:G47.33 {source="MONDO:equivalentTo"}
xref: ICD9:327.23 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:780.57 {source="MONDO:subClassOf", source="DOID:0050848"}
xref: MESH:D020181 {source="EFO:0003918", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27168 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.74"}
xref: OMIM:107650 {source="EFO:0003918", source="MONDO:equivalentTo", source="DOID:0050848"}
xref: SCTID:78275009 {source="EFO:0003918", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0520679 {source="OMIM:107650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0007147", source="NCIT:C27168"} ! syndromic disease
is_a: MONDO:0005296 {source="DOID:0050848", source="EFO:0003918", source="ICD10:G47.33", source="MESH:D020181", source="MONDOLEX:0007147", source="linkedlifedata"} ! sleep apnea syndrome
property_value: closeMatch http://identifiers.org/snomedct/155614007
property_value: closeMatch http://identifiers.org/snomedct/194441007
property_value: closeMatch http://identifiers.org/snomedct/196166002
property_value: closeMatch http://identifiers.org/snomedct/206750008
property_value: closeMatch http://identifiers.org/snomedct/313246000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037315
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338495
property_value: exactMatch DOID:0050848
property_value: exactMatch http://identifiers.org/mesh/D020181
property_value: exactMatch http://identifiers.org/omim/107650
property_value: exactMatch http://identifiers.org/snomedct/78275009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520679
property_value: exactMatch NCIT:C116337
property_value: exactMatch NCIT:C26884
property_value: exactMatch NCIT:C27168

[Term]
id: MONDO:0007148
name: appendicitis, proneness to
synonym: "appendicitis, proneness to" EXACT [OMIM:107700]
synonym: "appendicitis, susceptibility" RELATED [MONDO:cjm]
xref: OMIM:107700 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862632
property_value: exactMatch http://identifiers.org/omim/107700

[Term]
id: MONDO:0007149
name: arbitrary restriction polymorphism 1
synonym: "anonymous restriction polymorphism 1" RELATED [OMIM:107750]
synonym: "arbitrary restriction polymorphism 1" EXACT [OMIM:107750]
synonym: "arbitrary restriction polymorphism type 1" EXACT [MONDORULE:1, OMIM:107750]
synonym: "Arp-14A" RELATED [OMIM:107750]
synonym: "restriction fragment length polymorphism 14A" RELATED [OMIM:107750]
synonym: "Rflp-14A" RELATED [OMIM:107750]
xref: OMIM:107750 {source="MONDO:equivalentTo"}
xref: UMLS:C1862555 {source="OMIM:107750", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/107750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862555

[Term]
id: MONDO:0007150
name: arcus senilis
def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112]
synonym: "arcus corneae" RELATED [OMIM:107800]
synonym: "arcus of cornea" EXACT [DOID:11342]
synonym: "arcus senilis" EXACT [OMIM:107800]
synonym: "corneal arcus" EXACT [DOID:11342, OMIM:107800]
xref: DOID:11342 {source="EFO:1000818", source="MONDO:equivalentTo"}
xref: EFO:1000818 {source="MONDO:equivalentTo"}
xref: ICD10:H18.41 {source="DOID:11342"}
xref: MedDRA:10003082 {source="EFO:1000818"}
xref: MESH:D001112 {source="EFO:1000818", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11342"}
xref: OMIM:107800 {source="MONDO:equivalentTo", source="DOID:11342"}
xref: SCTID:231924000 {source="MONDO:kboom-pr-0.88/0.75/0.14", source="MONDO:equivalentTo", source="DOID:11342"}
xref: UMLS:C0003742 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:107800", source="DOID:11342"}
is_a: MONDO:0001515 {source="DOID:11342", source="linkedlifedata"} ! corneal degeneration
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/meddra/10003082
property_value: closeMatch http://identifiers.org/snomedct/111522004
property_value: closeMatch http://identifiers.org/snomedct/155159000
property_value: exactMatch DOID:11342
property_value: exactMatch http://identifiers.org/mesh/D001112
property_value: exactMatch http://identifiers.org/omim/107800
property_value: exactMatch http://identifiers.org/snomedct/231924000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003742

[Term]
id: MONDO:0007151
name: arms, malformation of
synonym: "arms, malformation of" EXACT [OMIM:107900]
xref: MESH:C566258 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:107900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862534
property_value: exactMatch http://identifiers.org/mesh/C566258
property_value: exactMatch http://identifiers.org/omim/107900

[Term]
id: MONDO:0007152
name: arrhythmogenic right ventricular dysplasia 1
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [DOID:0110070, OMIM:107970]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [DOID:0110070, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical, OMIM:107970]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 1; ARVD1" RELATED [OMIM:107970]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 1" EXACT [MONDORULE:1, OMIM:107970]
synonym: "ARVC1" EXACT [DOID:0110070]
synonym: "ARVD1" EXACT [DOID:0110070, MONDO:Lexical, OMIM:107970]
synonym: "cardiomyopathy, right ventricular dilated" RELATED [OMIM:107970]
synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [DOID:0110070]
synonym: "TGFB3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Uhl anomaly" RELATED [OMIM:107970]
xref: DOID:0110070 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110070"}
xref: ICD10:Q24.8 {source="DOID:0110070"}
xref: OMIM:107970 {source="DOID:0110070", source="MONDO:equivalentTo"}
xref: UMLS:C1862511 {source="OMIM:107970", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017401 ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form
is_a: MONDO:0017402 ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form
is_a: MONDO:0017403 ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862512
property_value: exactMatch DOID:0110070
property_value: exactMatch http://identifiers.org/omim/107970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862511

[Term]
id: MONDO:0007153
name: arteries, anomalies of
synonym: "arteries, anomalies of" EXACT [OMIM:108000]
xref: OMIM:108000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876179
property_value: exactMatch http://identifiers.org/omim/108000

[Term]
id: MONDO:0007154
name: arteriovenous malformations of the brain
def: "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." [Orphanet:46724]
subset: ordo_morphological_anomaly {source="Orphanet:46724"}
synonym: "arteriovenous malformations of the brain" EXACT [OMIM:108010]
synonym: "Bavm" RELATED [OMIM:108010]
synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688]
synonym: "cerebral arteriovenous malformations" RELATED [OMIM:108010]
synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, Orphanet:46724]
synonym: "intracranial AVM" RELATED [GARD:0003020]
synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010]
xref: COHD:4121803 {source="MONDO:equivalentTo"}
xref: DOID:0060688 {source="MONDO:equivalentTo"}
xref: GARD:0003020 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q28.2 {source="Orphanet:46724", source="DOID:0060688", source="ORDO:46724/attributed", source="ORDO:46724/ntbt"}
xref: MESH:D002538 {source="ORDO:46724/e", source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2936 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:108010 {source="ORDO:46724/e", source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo"}
xref: Orphanet:46724 {source="DOID:0060688", source="MONDO:equivalentTo", source="OMIM:108010"}
xref: SCTID:234142008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C0007772 {source="ORDO:46724/e", source="Orphanet:46724", source="NCIT:C2936", source="DOID:0060688", source="MONDO:equivalentTo"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936", source="Orphanet:46724", source="indirect"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015145 {source="Orphanet:46724"} ! neurovascular malformation
is_a: MONDO:0015953 {source="Orphanet:46724", source="Orphanet:46724/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018729 ! genetic vascular tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0917804
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676095
property_value: exactMatch DOID:0060688
property_value: exactMatch http://identifiers.org/mesh/D002538
property_value: exactMatch http://identifiers.org/omim/108010
property_value: exactMatch http://identifiers.org/snomedct/234142008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007772
property_value: exactMatch NCIT:C2936
property_value: exactMatch Orphanet:46724

[Term]
id: MONDO:0007155
name: arteritis, familial granulomatous, with juvenile polyarthritis
synonym: "arteritis, familial granulomatous, with juvenile polyarthritis" EXACT [OMIM:108050]
xref: MESH:C566253 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108050 {source="MONDO:equivalentTo"}
xref: UMLS:C1862510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:108050"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566253
property_value: exactMatch http://identifiers.org/omim/108050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862510

[Term]
id: MONDO:0007156
name: arthritis, sacroiliac
synonym: "arthritis, sacroiliac" EXACT [OMIM:108100]
xref: MESH:C563037 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108100 {source="MONDO:equivalentTo"}
xref: UMLS:C0748473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:108100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563037
property_value: exactMatch http://identifiers.org/omim/108100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748473

[Term]
id: MONDO:0007157
name: arthrogryposis, distal, type 1A
synonym: "arthrogryposis multiplex congenita, distal, type 1" RELATED [OMIM:108120]
synonym: "arthrogryposis multiplex congenita; AMC" EXACT [OMIM:108120]
synonym: "arthrogryposis, distal, type 1" RELATED [OMIM:108120]
synonym: "arthrogryposis, distal, type 1A" EXACT [MONDO:Lexical, OMIM:108120]
synonym: "arthrogryposis, distal, type 1A; DA1A" RELATED [OMIM:108120]
synonym: "DA1A" EXACT [MONDO:Lexical, OMIM:108120, Orphanet:1146]
xref: OMIM:108120 {source="MONDO:equivalentTo"}
is_a: MONDO:0015240 {source="MONDOLEX:0007157"} ! digitotalar dysmorphism
property_value: exactMatch http://identifiers.org/omim/108120

[Term]
id: MONDO:0007158
name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
def: "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." [Orphanet:1154]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1154"}
synonym: "Arthogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047]
synonym: "arthrogryposis ophthalmoplegia retinopathy" RELATED [GARD:0004047]
synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047, OMIM:108145]
synonym: "arthrogryposis, distal, type 2B" RELATED [OMIM:108145]
synonym: "arthrogryposis, distal, type 5" RELATED [MONDO:Lexical, OMIM:108145]
synonym: "arthrogryposis, distal, type 5; DA5" RELATED [OMIM:108145]
synonym: "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" EXACT [GARD:0004047]
synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" RELATED [Orphanet:1154]
synonym: "DA5" RELATED [MONDO:Lexical, OMIM:108145]
synonym: "distal arthrogryposis type 5" EXACT [Orphanet:1154]
synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154]
synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154]
synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154]
xref: GARD:0004047 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="Orphanet:1154", source="ORDO:1154/attributed", source="ORDO:1154/ntbt"}
xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="ORDO:1154/e", source="MONDO:equivalentTo"}
xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"}
xref: SCTID:715217004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862472 {source="Orphanet:1154", source="GARD:0004047", source="OMIM:108145", source="ORDO:1154/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019942 {source="DC-OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/omim/108145
property_value: exactMatch http://identifiers.org/snomedct/715217004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862472
property_value: exactMatch Orphanet:1154
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 xsd:anyURI {source="GARD:0004047"}

[Term]
id: MONDO:0007159
name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome
def: "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." [Orphanet:1144]
subset: ordo_malformation_syndrome {source="Orphanet:1144"}
synonym: "arthrogryposis and sensorineural deafness" RELATED [OMIM:108200]
synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical, OMIM:108200]
synonym: "arthrogryposis, distal, type 6; DA6" RELATED [OMIM:108200]
synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" RELATED [GARD:0000784]
synonym: "DA6" RELATED [MONDO:Lexical, OMIM:108200]
synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144]
synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784]
xref: GARD:0000784 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q68.8 {source="Orphanet:1144", source="ORDO:1144/attributed", source="ORDO:1144/ntbt"}
xref: MESH:C535386 {source="ORDO:1144/e", source="Orphanet:1144", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108200 {source="ORDO:1144/e", source="Orphanet:1144", source="MONDO:equivalentTo"}
xref: Orphanet:1144 {source="OMIM:108200", source="MONDO:equivalentTo"}
xref: SCTID:720515009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1862471 {source="ORDO:1144/e", source="OMIM:108200", source="MEDGEN:kboom-pr98-c99", source="Orphanet:1144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:1144"} ! syndromic genetic deafness
is_a: MONDO:0019942 {source="DC-OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C535386
property_value: exactMatch http://identifiers.org/omim/108200
property_value: exactMatch http://identifiers.org/snomedct/720515009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862471
property_value: exactMatch Orphanet:1144

[Term]
id: MONDO:0007160
name: Stickler syndrome type 1
subset: ordo_clinical_subtype {source="Orphanet:90653"}
synonym: "arthroophthalmopathy, hereditary progressive" RELATED [OMIM:108300]
synonym: "Stickler syndrome, membranous vitreous type" RELATED [OMIM:108300]
synonym: "Stickler syndrome, type 1" RELATED [OMIM:108300]
synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300]
synonym: "Stickler syndrome, type I; STL1" RELATED [OMIM:108300]
synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300]
synonym: "STL1" RELATED [MONDO:Lexical, OMIM:108300]
xref: GARD:0005018 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.5 {source="ORDO:90653/attributed", source="ORDO:90653/ntbt", source="Orphanet:90653"}
xref: MESH:C537492 {source="MONDO:equivalentTo", source="ORDO:90653/e", source="Orphanet:90653"}
xref: OMIM:108300 {source="MONDO:equivalentTo", source="ORDO:90653/e", source="Orphanet:90653"}
xref: Orphanet:90653 {source="OMIM:108300", source="MONDO:equivalentTo"}
is_a: MONDO:0019354 {source="DC-OMIM:108300", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome
is_a: MONDO:0019686 {source="Orphanet:90653"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2020284
property_value: exactMatch http://identifiers.org/mesh/C537492
property_value: exactMatch http://identifiers.org/omim/108300
property_value: exactMatch Orphanet:90653

[Term]
id: MONDO:0007161
name: SPGF2
synonym: "Aspermiogenesis Factor" RELATED [OMIM:108420]
synonym: "spermatogenic failure 2" RELATED [MONDO:Lexical, OMIM:108420]
synonym: "spermatogenic failure 2; SPGF2" RELATED [OMIM:108420]
synonym: "SPGF2" EXACT [MONDO:Lexical, OMIM:108420]
xref: DOID:0070164 {source="MONDO:equivalentTo"}
xref: OMIM:108420 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:108420", source="OMIM:108420"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862459
property_value: exactMatch DOID:0070164
property_value: exactMatch http://identifiers.org/omim/108420

[Term]
id: MONDO:0007162
name: asymmetric short stature syndrome
synonym: "asymmetric short stature syndrome" EXACT [OMIM:108450]
xref: MESH:C566248 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108450 {source="MONDO:equivalentTo"}
xref: UMLS:C1862458 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:108450"}
is_a: MONDO:0003847 {source="MESH:C566248/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566248
property_value: exactMatch http://identifiers.org/omim/108450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862458

[Term]
id: MONDO:0007163
name: episodic ataxia type 2
def: "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." [Orphanet:97]
subset: ordo_disease {source="Orphanet:97"}
synonym: "Acetazolamide-responsive episodic ataxia syndrome" RELATED [GARD:0009602]
synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [OMIM:108500]
synonym: "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia" RELATED [GARD:0009602]
synonym: "APCA" RELATED [GARD:0009602]
synonym: "ataxia, episodic, with Nystagmus" RELATED [OMIM:108500]
synonym: "ataxia, familial paroxysmal" RELATED [OMIM:108500]
synonym: "ataxia, familial, paroxysmal" RELATED [GARD:0009602]
synonym: "CACNA1A hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAPA" RELATED [GARD:0009602]
synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [OMIM:108500]
synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [OMIM:108500]
synonym: "EA2" RELATED [MONDO:Lexical, OMIM:108500]
synonym: "episodic ataxia type 2" EXACT [Orphanet:97]
synonym: "episodic ataxia with nystagmus" RELATED [GARD:0009602]
synonym: "episodic ataxia, Nystagmus-associated" RELATED [OMIM:108500]
synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical, OMIM:108500]
synonym: "episodic ataxia, type 2; EA2" RELATED [OMIM:108500]
synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97]
synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602]
xref: DOID:0050990 {source="MONDO:equivalentTo"}
xref: GARD:0009602 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:97", source="ORDO:97/attributed", source="ORDO:97/ntbt"}
xref: MESH:C535506 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="ORDO:97/e"}
xref: Orphanet:97 {source="OMIM:108500", source="MONDO:equivalentTo"}
xref: SCTID:420932006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1720416 {source="Orphanet:97", source="OMIM:108500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:97/e"}
is_a: MONDO:0016227 {source="DOID:0050990", source="MONDO:Redundant", source="OMIM:108500", source="Orphanet:97", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050990
property_value: exactMatch http://identifiers.org/mesh/C535506
property_value: exactMatch http://identifiers.org/omim/108500
property_value: exactMatch http://identifiers.org/snomedct/420932006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720416
property_value: exactMatch Orphanet:97

[Term]
id: MONDO:0007164
name: spastic ataxia 1
def: "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:251282"}
synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282]
synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108600]
synonym: "spastic ataxia 1, autosomal dominant; SPAX1" RELATED [OMIM:108600]
synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1]
synonym: "SPAX1" EXACT [MONDO:Lexical, OMIM:108600, Orphanet:251282]
synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050772 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="ORDO:251282/attributed", source="ORDO:251282/ntbt"}
xref: MESH:C566993 {source="MONDO:equivalentTo"}
xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="ORDO:251282/e"}
xref: Orphanet:251282 {source="OMIM:108600", source="MONDO:equivalentTo"}
xref: UMLS:C1970107 {source="Orphanet:251282", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:108600", source="MONDO:equivalentTo"}
is_a: MONDO:0017846 {source="MONDO:Redundant", source="MONDOLEX:0007164", source="Orphanet:251282"} ! autosomal dominant spastic ataxia
property_value: exactMatch DOID:0050772
property_value: exactMatch http://identifiers.org/mesh/C566993
property_value: exactMatch http://identifiers.org/omim/108600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970107
property_value: exactMatch Orphanet:251282

[Term]
id: MONDO:0007165
name: spastic ataxia 7
def: "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." [Orphanet:1182]
subset: ordo_disease {source="Orphanet:1182"}
synonym: "autosomal dominant spastic ataxia type 7" EXACT [Orphanet:1182]
synonym: "miosis, congenital, with spastic ataxia" RELATED [OMIM:108650]
synonym: "spastic ataxia 7, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108650]
synonym: "spastic ataxia 7, autosomal dominant; SPAX7" RELATED [OMIM:108650]
synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1]
synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650]
synonym: "SPAX7" EXACT [MONDO:Lexical, OMIM:108650, Orphanet:1182]
xref: DOID:0050945 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="ORDO:1182/attributed", source="ORDO:1182/ntbt", source="MONDO:relatedTo", source="Orphanet:1182"}
xref: MESH:C566247 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108650 {source="MONDO:equivalentTo", source="ORDO:1182/e", source="DOID:0050945", source="Orphanet:1182"}
xref: Orphanet:1182 {source="MONDO:equivalentTo", source="OMIM:108650"}
xref: SCTID:763669001 {source="MONDO:equivalentTo"}
xref: UMLS:C1862441 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1182", source="OMIM:108650"}
is_a: MONDO:0017846 {source="MONDOLEX:0007165", source="Orphanet:1182"} ! autosomal dominant spastic ataxia
property_value: exactMatch DOID:0050945
property_value: exactMatch http://identifiers.org/mesh/C566247
property_value: exactMatch http://identifiers.org/omim/108650
property_value: exactMatch http://identifiers.org/snomedct/763669001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862441
property_value: exactMatch Orphanet:1182

[Term]
id: MONDO:0007166
name: ataxia with fasciculations
synonym: "ataxia with fasciculations" EXACT [OMIM:108700]
xref: MESH:C566246 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108700 {source="MONDO:equivalentTo"}
xref: UMLS:C1862440 {source="OMIM:108700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="MONDO:cjm"} ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C566246
property_value: exactMatch http://identifiers.org/omim/108700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862440

[Term]
id: MONDO:0007167
name: atelosteogenesis type I
def: "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." [Orphanet:1190]
subset: ordo_malformation_syndrome {source="Orphanet:1190"}
synonym: "AO1" EXACT [Orphanet:1190]
synonym: "AO1" RELATED [MONDO:Lexical, OMIM:108720]
synonym: "AOI" EXACT [OMIM:108720, Orphanet:1190]
synonym: "atelosteogenesis type 1" EXACT [Orphanet:1190]
synonym: "atelosteogenesis, type 1" RELATED [OMIM:108720]
synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical, OMIM:108720]
synonym: "atelosteogenesis, type I; AO1" RELATED [OMIM:108720]
synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190]
synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190]
synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720]
xref: GARD:0009287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:1190/attributed", source="ORDO:1190/ntbt", source="Orphanet:1190"}
xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="ORDO:1190/e", source="MONDO:ontobio"}
xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="ORDO:1190/e"}
xref: Orphanet:1190 {source="OMIM:108720", source="MONDO:equivalentTo"}
xref: SCTID:725141006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000389 {source="DC-OMIM:108720", source="OMIM:108720"} ! atelosteogenesis
is_a: MONDO:0015322 {source="Orphanet:1190"} ! Pierre Robin syndrome associated with bone disease
is_a: MONDO:0019690 {source="Orphanet:1190"} ! filamin-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:1190"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C535396
property_value: exactMatch http://identifiers.org/omim/108720
property_value: exactMatch http://identifiers.org/snomedct/725141006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265283
property_value: exactMatch Orphanet:1190

[Term]
id: MONDO:0007168
name: atelosteogenesis type III
def: "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." [Orphanet:56305]
subset: ordo_malformation_syndrome {source="Orphanet:56305"}
synonym: "AO3" EXACT [MONDO:Lexical, OMIM:108721, Orphanet:56305]
synonym: "AOIII" EXACT [Orphanet:56305]
synonym: "Aoiii" RELATED [OMIM:108721]
synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305]
synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721]
synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721]
synonym: "atelosteogenesis, type III; AO3" RELATED [OMIM:108721]
xref: GARD:0010608 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="Orphanet:56305", source="ORDO:56305/attributed", source="ORDO:56305/ntbt"}
xref: MESH:C579928 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108721 {source="ORDO:56305/e", source="Orphanet:56305", source="MONDO:equivalentTo"}
xref: Orphanet:56305 {source="OMIM:108721", source="MONDO:equivalentTo"}
xref: SCTID:725142004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000389 {source="DC-OMIM:108721", source="OMIM:108721"} ! atelosteogenesis
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56305", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:56305"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015322 {source="Orphanet:56305"} ! Pierre Robin syndrome associated with bone disease
is_a: MONDO:0019690 {source="Orphanet:56305"} ! filamin-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:56305"} ! primary bone dysplasia with multiple joint dislocations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862414
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3668942
property_value: exactMatch http://identifiers.org/mesh/C579928
property_value: exactMatch http://identifiers.org/omim/108721
property_value: exactMatch http://identifiers.org/snomedct/725142004
property_value: exactMatch Orphanet:56305

[Term]
id: MONDO:0007169
name: ATHS
synonym: "Atherogenic lipoprotein phenotype" RELATED [OMIM:108725]
synonym: "atherosclerosis susceptibility" RELATED [MONDO:Lexical, OMIM:108725]
synonym: "atherosclerosis susceptibility; ATHS" RELATED [OMIM:108725]
synonym: "ATHS" EXACT [MONDO:Lexical, OMIM:108725]
xref: OMIM:108725 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1531719
property_value: exactMatch http://identifiers.org/omim/108725

[Term]
id: MONDO:0007170
name: atresia of external auditory canal and conductive deafness
synonym: "atresia of external auditory canal and conductive deafness" EXACT [OMIM:108760]
xref: OMIM:108760 {source="MONDO:equivalentTo"}
xref: UMLS:C3276095 {source="MONDO:equivalentTo", source="OMIM:108760"}
is_a: MONDO:0015385 {source="ORDO:141074/btnt"} ! external auditory canal aplasia/hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862395
property_value: exactMatch http://identifiers.org/omim/108760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276095

[Term]
id: MONDO:0007171
name: atrial standstill 1
def: "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrial cardiomyopathy with heart block" RELATED [OMIM:108770]
synonym: "atrial standstill 1" EXACT [MONDO:Lexical, OMIM:108770]
synonym: "atrial standstill 1; ATRST1" RELATED [OMIM:108770]
synonym: "atrial standstill caused by mutation in GJA5" EXACT [MONDO:design_pattern]
synonym: "atrial standstill type 1" EXACT [MONDORULE:1, OMIM:108770]
synonym: "ATRST1" RELATED [MONDO:Lexical, OMIM:108770]
synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [OMIM:108770]
synonym: "GJA5 atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:108770 {source="MONDO:equivalentTo"}
is_a: MONDO:0015281 {source="DC-OMIM:108770", source="MONDO:Redundant"} ! atrial standstill
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838539
property_value: exactMatch http://identifiers.org/omim/108770

[Term]
id: MONDO:0007172
name: atrial heart septal defect 1
def: "An atrial heart septal defect type 1 associated with variation in the region 5p." [DOID:0110106, PMID:9610535]
synonym: "ASD 1" RELATED [OMIM:108800]
synonym: "ASD 2" RELATED [OMIM:108800]
synonym: "ASD1" EXACT [DOID:0110106, MONDO:Lexical, OMIM:108800]
synonym: "atrial heart septal defect type 1" EXACT [DOID:0110106, MONDORULE:1]
synonym: "atrial septal defect 1" EXACT [DOID:0110106, MONDO:Lexical, OMIM:108800]
synonym: "atrial septal defect 1; ASD1" RELATED [OMIM:108800]
synonym: "atrial septal defect, primum type" RELATED [OMIM:108800]
synonym: "atrial septal defect, secundum type" RELATED [OMIM:108800]
xref: DOID:0110106 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110106"}
xref: OMIM:108800 {source="DOID:0110106", source="MONDO:equivalentTo"}
xref: UMLS:C1862389 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:108800"}
is_a: MONDO:0006664 {source="DC-OMIM:108800", source="DOID:0110106", source="MONDOLEX:0007172", source="OMIM:108800"} ! atrial heart septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862390
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862391
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862392
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862393
property_value: exactMatch DOID:0110106
property_value: exactMatch http://identifiers.org/omim/108800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862389

[Term]
id: MONDO:0007173
name: atrial heart septal defect 7
def: "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." [Orphanet:1479]
subset: ordo_malformation_syndrome {source="Orphanet:1479"}
synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112]
synonym: "ASD with or without atrioventricular conduction defects" RELATED [OMIM:108900]
synonym: "ASD7" RELATED [MONDO:Lexical, OMIM:108900]
synonym: "atrial heart septal defect caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 7" EXACT [DOID:0110112, MONDORULE:1]
synonym: "atrial septal defect 7 with or without atrioventricular conduction defects" RELATED [MONDO:Lexical, OMIM:108900]
synonym: "atrial septal defect 7 with or without atrioventricular conduction defects; ASD7" RELATED [OMIM:108900]
synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [DOID:0110112]
synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112]
synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110112 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="ORDO:1479/attributed", source="ORDO:1479/ntbt", source="Orphanet:1479", source="DOID:0110112"}
xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="ORDO:1479/e", source="DOID:0110112"}
xref: Orphanet:1479 {source="MONDO:equivalentTo", source="OMIM:108900", source="DOID:0110112"}
xref: UMLS:C3502353 {source="MONDO:equivalentTo", source="Orphanet:1479", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006664 {source="DC-OMIM:108900", source="DOID:0110112", source="MONDO:Redundant", source="MONDOLEX:0007173", source="OMIM:108900", source="OMIM:108900/inferred"} ! atrial heart septal defect
is_a: MONDO:0015110 {source="Orphanet:1479"} ! genetic cardiac rhythm disease
is_a: MONDO:0015506 {source="Orphanet:1479"} ! rare syndrome with cardiac malformations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862388
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276096
property_value: exactMatch DOID:0110112
property_value: exactMatch http://identifiers.org/omim/108900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502353
property_value: exactMatch Orphanet:1479

[Term]
id: MONDO:0007174
name: Lown-Ganong-Levine syndrome
def: "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." [Orphanet:844]
subset: ordo_disease {source="Orphanet:844"}
synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, ORDO:844]
synonym: "LGL syndrome" EXACT [Orphanet:844]
synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844]
synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087, MTHICD9_2006:426.81]
xref: COHD:437892 {source="MONDO:equivalentTo"}
xref: DOID:13087 {source="MONDO:equivalentTo"}
xref: ICD10:I45.6 {source="Orphanet:844", source="DOID:13087", source="ORDO:844/inclusion", source="ORDO:844/ntbt"}
xref: ICD9:426.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:13087"}
xref: MedDRA:10024984 {source="ORDO:844/e", source="Orphanet:844"}
xref: MESH:D008151 {source="MONDO:equivalentTo", source="DOID:13087"}
xref: OMIM:108950 {source="ORDO:844/e", source="Orphanet:844", source="MONDO:equivalentTo"}
xref: Orphanet:844 {source="OMIM:108950", source="MONDO:equivalentTo", source="DOID:13087"}
xref: SCTID:55475008 {source="MONDO:equivalentTo", source="DOID:13087", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024054 {source="ORDO:844/e", source="Orphanet:844", source="MONDO:equivalentTo", source="DOID:13087"}
xref: UMLS:C1862387 {source="MEDGEN:kboom-pr98-c99", source="OMIM:108950", source="NCBI:mim2gene_medline", source="Orphanet:844", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:13087", source="MONDOLEX:0007174"} ! syndromic disease
is_a: MONDO:0015110 {source="Orphanet:844"} ! genetic cardiac rhythm disease
property_value: exactMatch DOID:13087
property_value: exactMatch http://identifiers.org/meddra/10024984
property_value: exactMatch http://identifiers.org/mesh/D008151
property_value: exactMatch http://identifiers.org/omim/108950
property_value: exactMatch http://identifiers.org/snomedct/55475008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862387
property_value: exactMatch Orphanet:844

[Term]
id: MONDO:0007175
name: PR interval, variation 1N
synonym: "Atrioventricular conduction time, variation 1N" RELATED [OMIM:108980]
synonym: "PR interval, variation IN" RELATED [OMIM:108980]
synonym: "PR interval, variation type 1N" EXACT [MONDORULE:4, OMIM:108980]
xref: OMIM:108980 {source="MONDO:equivalentTo"}
xref: UMLS:C3152251 {source="MONDO:equivalentTo", source="OMIM:108980"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0429087
property_value: exactMatch http://identifiers.org/omim/108980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3152251

[Term]
id: MONDO:0007176
name: helicoid peripapillary chorioretinal degeneration
def: "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." [Orphanet:86813]
subset: ordo_disease {source="Orphanet:86813"}
synonym: "atrophia areata" EXACT [OMIM:108985, Orphanet:86813]
synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [OMIM:108985]
synonym: "peripapillary chorioretinal Degeneration, Icelandic type" RELATED [OMIM:108985]
synonym: "SCRA" EXACT [MONDO:Lexical, OMIM:108985, Orphanet:86813]
synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985]
synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813]
synonym: "SVEINSSON chorioretinal atrophy; SCRA" RELATED [OMIM:108985]
xref: ICD10:H31.2 {source="ORDO:86813/attributed", source="ORDO:86813/ntbt", source="Orphanet:86813"}
xref: MESH:C566236 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:108985 {source="ORDO:86813/e", source="MONDO:equivalentTo", source="Orphanet:86813"}
xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"}
xref: SCTID:724384008 {source="MONDO:equivalentTo"}
xref: UMLS:C1862382 {source="NCBI:mim2gene_medline", source="OMIM:108985", source="MONDO:equivalentTo", source="Orphanet:86813", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019118 {source="Orphanet:86813"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C566236
property_value: exactMatch http://identifiers.org/omim/108985
property_value: exactMatch http://identifiers.org/snomedct/724384008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862382
property_value: exactMatch Orphanet:86813

[Term]
id: MONDO:0007177
name: auriculoosteodysplasia
def: "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." [Orphanet:114]
subset: gard_rare {source="GARD:0008663"}
subset: ordo_malformation_syndrome {source="Orphanet:114"}
synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663]
synonym: "auriculoosteodysplasia" EXACT [OMIM:109000]
synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663]
xref: GARD:0008663 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="Orphanet:114", source="ORDO:114/attributed", source="ORDO:114/ntbt"}
xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:114/e"}
xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="ORDO:114/e"}
xref: Orphanet:114 {source="MONDO:equivalentTo", source="OMIM:109000"}
xref: UMLS:C1862381 {source="Orphanet:114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109000", source="ORDO:114/e"}
is_a: MONDO:0019700 {source="Orphanet:114"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C538271
property_value: exactMatch http://identifiers.org/omim/109000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862381
property_value: exactMatch Orphanet:114
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia xsd:anyURI {source="GARD:0008663"}

[Term]
id: MONDO:0007178
name: aurocephalosyndactyly
synonym: "aural cephalosyndactyly" RELATED [GARD:0009218]
synonym: "Auralcephalosyndactyly" RELATED [OMIM:109050]
synonym: "aurocephalosyndactyly" EXACT [OMIM:109050]
synonym: "Kurczynski-Casperson syndrome" RELATED [GARD:0009218]
xref: GARD:0009218 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566235 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109050 {source="MONDO:equivalentTo"}
xref: Orphanet:1219 {source="MONDO:equivalentTo", source="OMIM:109050"}
xref: UMLS:C1862380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109050"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566235
property_value: exactMatch http://identifiers.org/omim/109050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862380
property_value: exactMatch Orphanet:1219

[Term]
id: MONDO:0007179
name: autoimmune disease
def: "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." [NCIT:C2889]
comment: Editor note: check OMIM
synonym: "autoimmune disease" EXACT [EFO:0005140, NCIT:C2889, OMIM:109100]
synonym: "autoimmune disease or disorder" EXACT []
synonym: "autoimmune disorder" EXACT [NCIT:C2889]
synonym: "autoimmune hypersensitivity disease" RELATED [DOID:417]
synonym: "disease, autoimmune" EXACT [NCIT:C2889]
synonym: "hypersensitivity reaction type II disease" RELATED [DOID:417]
xref: COHD:434621 {source="MONDO:equivalentTo"}
xref: DOID:417 {source="MONDO:equivalentTo"}
xref: EFO:0005140 {source="MONDO:equivalentTo"}
xref: ICD9:279.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:720 {source="DOID:417"}
xref: MESH:D001327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2889 {source="MONDO:equivalentTo", source="EFO:0005140"}
xref: OBI:1110054 {source="MONDO:equivalentTo", source="EFO:0005140"}
xref: OMIM:109100 {source="DOID:417", source="MONDO:equivalentTo"}
xref: SCTID:85828009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0005140"}
xref: UMLS:C0004364 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C2889", source="OMIM:109100"}
is_a: MONDO:0000605 {source="DOID:417", source="MONDO:Entailed"} ! hypersensitivity reaction disease
property_value: exactMatch DOID:417
property_value: exactMatch http://identifiers.org/mesh/D001327
property_value: exactMatch http://identifiers.org/omim/109100
property_value: exactMatch http://identifiers.org/snomedct/85828009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004364
property_value: exactMatch NCIT:C2889

[Term]
id: MONDO:0007180
name: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
synonym: "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" EXACT [OMIM:109120]
synonym: "De Hauwere syndrome" RELATED [OMIM:109120]
synonym: "iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness" RELATED [OMIM:109120]
xref: MESH:C566234 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109120 {source="MONDO:equivalentTo"}
xref: Orphanet:1831 {source="MONDO:equivalentTo", source="OMIM:109120"}
xref: UMLS:C1862373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109120"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566234
property_value: exactMatch http://identifiers.org/omim/109120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862373
property_value: exactMatch Orphanet:1831

[Term]
id: MONDO:0007181
name: axial osteomalacia
subset: gard_rare {source="GARD:0008431"}
synonym: "atypical osteomalacia involving the axial skeleton" RELATED [GARD:0008431]
synonym: "axial osteomalacia" EXACT [OMIM:109130]
xref: DOID:0080039 {source="MONDO:equivalentTo"}
xref: GARD:0008431 {source="MONDO:equivalentTo"}
xref: MESH:C537791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109130 {source="MONDO:equivalentTo"}
xref: UMLS:C1862372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109130"}
is_a: MONDO:0042973 ! familial osteosclerosis
property_value: exactMatch DOID:0080039
property_value: exactMatch http://identifiers.org/mesh/C537791
property_value: exactMatch http://identifiers.org/omim/109130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862372
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia xsd:anyURI {source="GARD:0008431"}

[Term]
id: MONDO:0007182
name: Machado-Joseph disease
def: "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." [Orphanet:98757]
subset: ordo_disease {source="Orphanet:98757"}
synonym: "autosomal dominant striatonigral degeneration" EXACT [Orphanet:98757]
synonym: "Azorean disease" EXACT [DOID:1440]
synonym: "Azorean disease of the nervous system" EXACT [Orphanet:98757]
synonym: "Azorean neurologic disease" RELATED [OMIM:109150]
synonym: "Machado disease" EXACT [Orphanet:98757]
synonym: "Machado-Joseph disease" EXACT [MONDO:Lexical, OMIM:109150, Orphanet:98757]
synonym: "Machado-Joseph disease; MJD" RELATED [OMIM:109150]
synonym: "MJD" EXACT [DOID:1440, MONDO:Lexical, OMIM:109150, Orphanet:98757]
synonym: "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" EXACT [Orphanet:98757]
synonym: "Nigrospinodentatal Degeneration" RELATED [OMIM:109150]
synonym: "SCA3" EXACT [Orphanet:98757]
synonym: "spinocerebellar ataxia 3" EXACT [DOID:1440, OMIM:109150]
synonym: "spinocerebellar ataxia type 3" EXACT [DOID:1440]
synonym: "spinocerebellar atrophy 3" RELATED [OMIM:109150]
synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801]
synonym: "Spinopontine atrophy" RELATED [OMIM:109150]
xref: DOID:1440 {source="MONDO:equivalentTo"}
xref: GARD:0006801 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:98757", source="ORDO:98757/attributed", source="ORDO:98757/ntbt"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017827 {source="DOID:1440", source="MONDO:equivalentTo"}
xref: NCIT:C84830 {source="DOID:1440", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:109150 {source="ORDO:98757/e", source="DOID:1440", source="MONDO:equivalentTo", source="Orphanet:98757"}
xref: Orphanet:98757 {source="MONDO:equivalentTo", source="OMIM:109150"}
xref: SCTID:91952008 {source="DOID:1440", source="MONDO:equivalentTo"}
xref: UMLS:C0024408 {source="DOID:1440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98757", source="OMIM:109150", source="NCIT:C84830"}
is_a: MONDO:0015548 {source="Orphanet:98757"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="Orphanet:98757"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:1440
property_value: exactMatch http://identifiers.org/mesh/D017827
property_value: exactMatch http://identifiers.org/omim/109150
property_value: exactMatch http://identifiers.org/snomedct/91952008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024408
property_value: exactMatch NCIT:C84830
property_value: exactMatch Orphanet:98757

[Term]
id: MONDO:0007183
name: azotemia, familial
synonym: "azotemia, familial" EXACT [OMIM:109160]
xref: MESH:C566233 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109160 {source="MONDO:equivalentTo"}
xref: UMLS:C1862358 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109160"}
is_a: MONDO:0003847 {source="MESH:C566233/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566233
property_value: exactMatch http://identifiers.org/omim/109160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862358

[Term]
id: MONDO:0007184
name: AGA1
synonym: "AGA1" EXACT [MONDO:Lexical, OMIM:109200]
synonym: "alopecia, androgenetic, 1" RELATED [MONDO:Lexical, OMIM:109200]
synonym: "alopecia, androgenetic, 1; AGA1" RELATED [OMIM:109200]
synonym: "baldness, Male pattern" RELATED [OMIM:109200]
xref: OMIM:109200 {source="MONDO:equivalentTo"}
is_a: MONDO:0000005 {source="DC-OMIM:109200", source="OMIM:109200"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162311
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3494490
property_value: exactMatch http://identifiers.org/omim/109200

[Term]
id: MONDO:0007185
name: Banki syndrome
def: "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." [Orphanet:1228]
subset: gard_rare {source="GARD:0000813"}
subset: ordo_malformation_syndrome {source="Orphanet:1228"}
synonym: "Banki syndrome" EXACT [OMIM:109300]
synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813]
xref: GARD:0000813 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.1 {source="ORDO:1228/attributed", source="ORDO:1228/ntbt", source="Orphanet:1228"}
xref: MESH:C566228 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="ORDO:1228/e"}
xref: Orphanet:1228 {source="OMIM:109300", source="MONDO:equivalentTo"}
xref: SCTID:733093004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862319 {source="OMIM:109300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1228"}
is_a: MONDO:0019715 {source="Orphanet:1228"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/mesh/C566228
property_value: exactMatch http://identifiers.org/omim/109300
property_value: exactMatch http://identifiers.org/snomedct/733093004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862319
property_value: exactMatch Orphanet:1228
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/813/banki-syndrome xsd:anyURI {source="GARD:0000813"}

[Term]
id: MONDO:0007186
name: gastroesophageal reflux disease
def: "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." [NCIT:C26781]
synonym: "acid reflux" EXACT [DOID:8534]
synonym: "Gastresophageal reflux" EXACT [DOID:8534]
synonym: "gastro-esophageal reflux" EXACT [DOID:8534]
synonym: "gastroesophageal reflux" EXACT [DOID:8534, MONDO:Lexical, MTHICD9_2006:530.81, OMIM:109350]
synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, OMIM:109350]
synonym: "gastroesophageal reflux, pediatric" RELATED [OMIM:109350]
synonym: "gastroesophageal reflux; ger" RELATED [OMIM:109350]
synonym: "ger" RELATED [MONDO:Lexical, OMIM:109350]
synonym: "GERD" EXACT [DOID:8534, NCIT:C26781]
synonym: "GERD - gastro-esophageal reflux disease" EXACT [DOID:8534]
xref: COHD:318800 {source="MONDO:equivalentTo"}
xref: DOID:8534 {source="MONDO:equivalentTo", source="EFO:0003948"}
xref: EFO:0003948 {source="MONDO:equivalentTo"}
xref: ICD10:K21 {source="DOID:8534"}
xref: ICD10:K21.9 {source="DOID:8534"}
xref: ICD9:530.81 {source="DOID:8534", source="MONDO:equivalentTo", source="i2s", source="EFO:0003948"}
xref: MESH:D005764 {source="DOID:8534", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003948"}
xref: NCIT:C26781 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948", source="exact-label-match"}
xref: OMIM:109350 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"}
xref: SCTID:235595009 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0017168 {source="DOID:8534", source="NCIT:C26781", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109350"}
is_a: MONDO:0003749 {source="MESH:D005764/inferred", source="MONDO:Redundant", source="NCIT:C26781/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! esophageal disease
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004298 ! stomach disease
property_value: closeMatch http://identifiers.org/snomedct/102620007
property_value: closeMatch http://identifiers.org/snomedct/155673008
property_value: closeMatch http://identifiers.org/snomedct/196600005
property_value: closeMatch http://identifiers.org/snomedct/196624002
property_value: closeMatch http://identifiers.org/snomedct/266498005
property_value: closeMatch http://identifiers.org/snomedct/54856001
property_value: closeMatch http://identifiers.org/snomedct/698065002
property_value: exactMatch DOID:8534
property_value: exactMatch http://identifiers.org/mesh/D005764
property_value: exactMatch http://identifiers.org/omim/109350
property_value: exactMatch http://identifiers.org/snomedct/235595009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017168
property_value: exactMatch NCIT:C26781
property_value: exactMatch NCIT:C92560

[Term]
id: MONDO:0007187
name: nevoid basal cell carcinoma syndrome
def: "Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities." [Orphanet:377]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:377"}
synonym: "basal cell nevus syndrome" EXACT [DOID:2512, Orphanet:377]
synonym: "basal cell nevus syndrome" RELATED [MONDO:Lexical, OMIM:109400]
synonym: "basal cell nevus syndrome; BCNS" RELATED [OMIM:109400]
synonym: "BCNS" RELATED [MONDO:Lexical, OMIM:109400]
synonym: "Gorlin syndrome" EXACT [DOID:2512, OMIM:109400]
synonym: "Gorlin-Goltz syndrome" EXACT [OMIM:109400, Orphanet:377]
synonym: "multiple basal cell carcinomas" EXACT [NCIT:C2892]
synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" RELATED [OMIM:109400]
synonym: "NBCCS" EXACT [Orphanet:377]
synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892]
synonym: "nevoid basal cell carcinoma syndrome" EXACT [OMIM:109400, Orphanet:377]
xref: DOID:2512 {source="MONDO:equivalentTo"}
xref: GARD:0007166 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:377/attributed", source="ORDO:377/ntbt", source="Orphanet:377"}
xref: MedDRA:10062804 {source="ORDO:377/e", source="Orphanet:377"}
xref: NCIT:C2892 {source="DOID:2512", source="MONDO:equivalentTo"}
xref: OMIM:109400 {source="DOID:2512", source="MONDO:equivalentTo", source="ORDO:377/e", source="Orphanet:377"}
xref: Orphanet:377 {source="OMIM:109400", source="MONDO:equivalentTo"}
xref: SCTID:69408002 {source="MONDO:kboom-pr-0.73/0.41/0.19", source="DOID:2512", source="MONDO:equivalentTo"}
xref: UMLS:C0004779 {source="OMIM:109400", source="NCBI:mim2gene_medline", source="DOID:2512", source="MONDO:equivalentTo", source="NCIT:C2892", source="ORDO:377/e", source="Orphanet:377"}
is_a: MONDO:0000426 {source="DOID:2512", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016756 {source="Orphanet:377"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020063 {source="Orphanet:377"} ! malformation syndrome with hamartosis
is_a: MONDO:0042983 {source="NCIT:C2892", source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0020175 {source="Orphanet:377"} ! malignant tumor of palpebral epidermis
property_value: closeMatch http://identifiers.org/mesh/D001478
property_value: closeMatch http://identifiers.org/snomedct/188145001
property_value: closeMatch http://identifiers.org/snomedct/254704004
property_value: exactMatch DOID:2512
property_value: exactMatch http://identifiers.org/meddra/10062804
property_value: exactMatch http://identifiers.org/omim/109400
property_value: exactMatch http://identifiers.org/snomedct/69408002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004779
property_value: exactMatch NCIT:C2892
property_value: exactMatch Orphanet:377

[Term]
id: MONDO:0007188
name: primary basilar invagination
def: "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." [Orphanet:2285]
subset: ordo_morphological_anomaly {source="Orphanet:2285"}
synonym: "basilar impression, primary" RELATED [OMIM:109500]
synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285]
synonym: "primary basilar impression" RELATED [GARD:0001037]
xref: GARD:0001037 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:2285/attributed", source="ORDO:2285/ntbt", source="Orphanet:2285"}
xref: MESH:C566226 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109500 {source="MONDO:equivalentTo", source="Orphanet:2285", source="ORDO:2285/e"}
xref: Orphanet:2285 {source="OMIM:109500", source="MONDO:equivalentTo"}
xref: UMLS:C1862299 {source="OMIM:109500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2285"}
is_a: MONDO:0015141 {source="Orphanet:2285"} ! disorder of medulla oblongata
is_a: MONDO:0019117 {source="Orphanet:2285", source="Orphanet:2285/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C566226
property_value: exactMatch http://identifiers.org/omim/109500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862299
property_value: exactMatch Orphanet:2285

[Term]
id: MONDO:0007189
name: B-cell growth factor
synonym: "B-cell growth factor" EXACT [MONDO:Lexical, OMIM:109540]
synonym: "B-cell growth Factor 1" RELATED [OMIM:109540]
synonym: "B-cell growth factor; BCGF" RELATED [OMIM:109540]
synonym: "BCGF" RELATED [MONDO:Lexical, OMIM:109540]
xref: OMIM:109540 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862295
property_value: exactMatch http://identifiers.org/omim/109540

[Term]
id: MONDO:0007190
name: leukemia, chronic lymphocytic, susceptibility to, 2
subset: predisposition
synonym: "B-cell malignancy, low-grade" RELATED [OMIM:109543]
synonym: "Clls2" RELATED [OMIM:109543]
synonym: "Disrupted in B-cell malignancy" RELATED [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, B-cell" RELATED [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 2" EXACT [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:109543]
xref: OMIM:109543 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="MONDO:cjm"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868683
property_value: exactMatch http://identifiers.org/omim/109543

[Term]
id: MONDO:0007191
name: Behcet disease
def: "Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." [Orphanet:117]
subset: ordo_disease {source="Orphanet:117"}
synonym: "Adamantiades-Behcet disease" EXACT [DOID:13241]
synonym: "BD" RELATED [GARD:0000848]
synonym: "Bechet syndrome" EXACT []
synonym: "Behcet disease" EXACT [OMIM:109650]
synonym: "Behcet syndrome" EXACT [DOID:13241, OMIM:109650]
synonym: "Behcet's disease" RELATED [DOID:13241]
synonym: "Behcet's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13241, ICD9CM_2006:136.1, MONDO:LexicalVariant]
synonym: "Behet's syndrome" EXACT [DOID:13241]
synonym: "Behçet disease" EXACT [NCIT:C34416]
synonym: "Behçet syndrome" EXACT [NCIT:C34416]
synonym: "Behçet's disease" RELATED [GARD:0000848]
synonym: "Behçet's syndrome" EXACT [NCIT:C34416]
synonym: "Behçet-Adamantiades syndrome" EXACT [NCIT:C34416]
synonym: "Behçet’s disease" RELATED [GARD:0000848]
synonym: "Morbus Behçet's syndrome" EXACT [NCIT:C34416]
synonym: "silk road disease" EXACT [NCIT:C34416]
synonym: "triple symptom complex" EXACT [CSP2005:0944-7825, DOID:13241]
xref: COHD:436642 {source="MONDO:equivalentTo"}
xref: DOID:13241 {source="MONDO:equivalentTo", source="EFO:0003780"}
xref: EFO:0003780 {source="MONDO:equivalentTo", source="DOID:13241"}
xref: GARD:0000848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M35.2 {source="ORDO:117/e", source="Orphanet:117", source="DOID:13241"}
xref: ICD9:136.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13241", source="EFO:0003780"}
xref: MedDRA:10004213 {source="ORDO:117/e", source="Orphanet:117"}
xref: MESH:D001528 {source="ORDO:117/e", source="Orphanet:117", source="MONDO:equivalentTo", source="DOID:13241", source="MONDO:ontobio", source="EFO:0003780"}
xref: NCIT:C34416 {source="MONDO:kboom-pr-1.00/0.91/25.76", source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"}
xref: OMIM:109650 {source="ORDO:117/e", source="Orphanet:117", source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"}
xref: Orphanet:117 {source="MONDO:equivalentTo", source="OMIM:109650"}
xref: SCTID:310701003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.27", source="DOID:13241", source="EFO:0003780"}
xref: UMLS:C0004943 {source="ORDO:117/e", source="Orphanet:117", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13241", source="NCIT:C34416", source="OMIM:109650"}
is_a: MONDO:0003346 ! central nervous system vasculitis
is_a: MONDO:0015488 {source="Orphanet:117"} ! predominantly large-vessel vasculitis
is_a: MONDO:0015657 {source="Orphanet:117"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0017259 {source="Orphanet:117"} ! systemic diseases with anterior uveitis
is_a: MONDO:0017260 {source="Orphanet:117"} ! systemic diseases with posterior uveitis
is_a: MONDO:0017261 {source="Orphanet:117"} ! systemic diseases with panuveitis
is_a: MONDO:0017370 {source="Orphanet:117"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017957 {source="Orphanet:117"} ! unclassified autoinflammatory syndrome
is_a: MONDO:0019293 {source="MESH:D001528", source="OWLReasoner:2017"} ! skin vascular disease
is_a: MONDO:0019724 {source="Orphanet:117"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/154424000
property_value: closeMatch http://identifiers.org/snomedct/41225007
property_value: exactMatch DOID:13241
property_value: exactMatch http://identifiers.org/meddra/10004213
property_value: exactMatch http://identifiers.org/mesh/D001528
property_value: exactMatch http://identifiers.org/omim/109650
property_value: exactMatch http://identifiers.org/snomedct/310701003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004943
property_value: exactMatch NCIT:C34416
property_value: exactMatch Orphanet:117

[Term]
id: MONDO:0007192
name: AABT
synonym: "AABT" EXACT [MONDO:Lexical, OMIM:109660]
synonym: "BETA-amino acids, renal TRANSPORT OF" RELATED [MONDO:Lexical, OMIM:109660]
synonym: "BETA-amino acids, renal TRANSPORT OF; AABT" RELATED [OMIM:109660]
synonym: "taurine renal reabsorption" RELATED [OMIM:109660]
xref: OMIM:109660 {source="MONDO:equivalentTo"}
xref: UMLS:C1862289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109660"}
is_a: MONDO:0003847 {source="OMIM:109660/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/109660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862289

[Term]
id: MONDO:0007193
name: primary biliary cholangitis 1
synonym: "biliary cirrhosis, primary, 1" RELATED [MONDO:Lexical, OMIM:109720]
synonym: "biliary cirrhosis, primary, 1; PBC1" RELATED [OMIM:109720]
synonym: "Pbc" RELATED [OMIM:109720]
synonym: "PBC1" RELATED [MONDO:Lexical, OMIM:109720]
xref: OMIM:109720 {source="MONDO:equivalentTo"}
xref: UMLS:CN029380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005388 {source="DC-OMIM:109720", source="MONDOLEX:0007193", source="OMIM:109720"} ! primary biliary cholangitis
property_value: exactMatch http://identifiers.org/omim/109720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029380

[Term]
id: MONDO:0007194
name: familial bicuspid aortic valve
def: "Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." [Orphanet:402075]
subset: ordo_morphological_anomaly {source="Orphanet:402075"}
synonym: "aortic valve disease 1" NARROW [MONDO:Lexical, OMIM:109730]
synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730]
synonym: "AOVD1" NARROW [MONDO:Lexical, OMIM:109730]
synonym: "familial BAV" EXACT [Orphanet:402075]
xref: DOID:0080332 {source="MONDO:equivalentTo"}
xref: ICD10:Q23.1 {source="ORDO:402075/attributed", source="ORDO:402075/ntbt", source="Orphanet:402075"}
xref: OMIMPS:109730 {source="MONDO:cjm", source="DOID:0080332", source="MONDO:equivalentTo"}
xref: Orphanet:402075 {source="OMIM:109730", source="DOID:0080332", source="MONDO:equivalentTo"}
is_a: MONDO:0003803 {source="DOID:0080332", source="MONDO:Redundant", source="OMIM:109730", source="indirect"} ! aortic valve disease
is_a: MONDO:0017131 {source="Orphanet:402075"} ! genetic cardiac anomaly
is_a: MONDO:0017311 {source="Orphanet:402075"} ! rare disease with thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0020286 {source="Orphanet:402075"} ! aortic malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149630
property_value: exactMatch DOID:0080332
property_value: exactMatch Orphanet:402075

[Term]
id: MONDO:0007195
name: bifid nose, autosomal dominant
synonym: "bifid nose, autosomal dominant" EXACT [OMIM:109740]
xref: OMIM:109740 {source="MONDO:equivalentTo"}
xref: UMLS:C2751431 {source="OMIM:109740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000110 {source="DC-OMIM:109740"} ! bifid nose
property_value: exactMatch http://identifiers.org/omim/109740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751431

[Term]
id: MONDO:0007196
name: obsolete bladder cancer
comment: OMIM references Orphanet:157980 but this does not exist
is_obsolete: true
replaced_by: MONDO:0001187

[Term]
id: MONDO:0007197
name: bladder diverticulum (disease)
synonym: "bladder diverticulum" EXACT [MONDO:ambiguous, OMIM:109820]
synonym: "diverticulum - bladder" EXACT [DOID:11353]
synonym: "diverticulum of bladder" EXACT [DOID:11353]
xref: COHD:195864 {source="MONDO:equivalentTo"}
xref: DOID:11353 {source="MONDO:equivalentTo"}
xref: HP:0000015 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N32.3 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: ICD9:596.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:11353"}
xref: MESH:C562406 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11353"}
xref: OMIM:109820 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: SCTID:197866008 {source="MONDO:equivalentTo", source="DOID:11353", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006026 {source="DOID:11353", source="linkedlifedata"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/155888001
property_value: closeMatch http://identifiers.org/snomedct/156977001
property_value: closeMatch http://identifiers.org/snomedct/197869001
property_value: closeMatch http://identifiers.org/snomedct/21853005
property_value: closeMatch http://identifiers.org/snomedct/252004007
property_value: closeMatch http://identifiers.org/snomedct/268335001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0156273
property_value: exactMatch DOID:11353
property_value: exactMatch http://identifiers.org/mesh/C562406
property_value: exactMatch http://identifiers.org/omim/109820
property_value: exactMatch http://identifiers.org/snomedct/197866008

[Term]
id: MONDO:0007198
name: Ascher syndrome
def: "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." [Orphanet:1253]
subset: gard_rare {source="GARD:0000201"}
subset: ordo_malformation_syndrome {source="Orphanet:1253"}
synonym: "Ascher syndrome" EXACT [OMIM:109900]
synonym: "Ascher's syndrome" RELATED [GARD:0000201]
synonym: "blepharochalasis - double lip" RELATED [GARD:0000201]
synonym: "blepharochalasis and DOUBLE LIP" RELATED [OMIM:109900]
synonym: "blepharochalasis and Double lip" RELATED [OMIM:109900]
synonym: "blepharochalasis and double lip" RELATED [GARD:0000201]
synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900]
synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253]
synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201]
xref: GARD:0000201 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1253", source="ORDO:1253/attributed", source="ORDO:1253/ntbt"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:374.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562742 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:109900 {source="Orphanet:1253", source="ORDO:1253/e", source="MONDO:equivalentTo"}
xref: Orphanet:1253 {source="MONDO:equivalentTo", source="OMIM:109900"}
xref: SCTID:28599006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.58"}
xref: UMLS:C0339085 {source="Orphanet:1253", source="ORDO:1253/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109900"}
is_a: MONDO:0015331 {source="Orphanet:1253"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0043008 {source="Orphanet:1253"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C562742
property_value: exactMatch http://identifiers.org/omim/109900
property_value: exactMatch http://identifiers.org/snomedct/28599006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339085
property_value: exactMatch Orphanet:1253
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome xsd:anyURI {source="GARD:0000201"}

[Term]
id: MONDO:0007199
name: blepharochalasis, superior
synonym: "blepharochalasis, superior" EXACT [OMIM:110000]
xref: MESH:C566223 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:110000 {source="MONDO:equivalentTo"}
xref: UMLS:C1862275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:110000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566223
property_value: exactMatch http://identifiers.org/omim/110000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862275

[Term]
id: MONDO:0007200
name: blepharonasofacial malformation syndrome
def: "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." [Orphanet:1252]
subset: gard_rare {source="GARD:0004238"}
subset: ordo_malformation_syndrome {source="Orphanet:1252"}
synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050]
synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252]
synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252]
xref: GARD:0004238 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1252", source="ORDO:1252/attributed", source="ORDO:1252/ntbt"}
xref: MESH:C536303 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="ORDO:1252/e"}
xref: Orphanet:1252 {source="OMIM:110050", source="MONDO:equivalentTo"}
xref: SCTID:717913006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796197 {source="Orphanet:1252", source="MEDGEN:kboom-pr97-c99", source="OMIM:110050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1252", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015503 {source="Orphanet:1252"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:1252", source="Orphanet:1252/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536303
property_value: exactMatch http://identifiers.org/omim/110050
property_value: exactMatch http://identifiers.org/snomedct/717913006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796197
property_value: exactMatch Orphanet:1252
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome xsd:anyURI {source="GARD:0004238"}

[Term]
id: MONDO:0007201
name: blepharophimosis, ptosis, and epicanthus inversus syndrome
def: "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF; see this term) (type II)." [Orphanet:126]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:126"}
synonym: "blepharophimosis syndrome type 1" RELATED [GARD:0000023]
synonym: "blepharophimosis types 1 and 2" EXACT [Orphanet:126]
synonym: "blepharophimosis, ptosis, and epicanthus inversus" RELATED [MONDO:Lexical, OMIM:110100]
synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" RELATED [GARD:0000023]
synonym: "blepharophimosis, ptosis, and epicanthus inversus; BPES" RELATED [OMIM:110100]
synonym: "blepharophimosis, ptosis, epicanthus inversus syndrome" RELATED [DOID:14778]
synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" RELATED [GARD:0000023]
synonym: "blepharophimosis-epicanthus inversus-ptosis syndrome" RELATED [Orphanet:126]
synonym: "BPES" RELATED [MONDO:Lexical, OMIM:110100]
synonym: "BPES type 1" RELATED [GARD:0000023]
synonym: "BPES with Duane retraction syndrome" RELATED [OMIM:110100]
synonym: "BPES with ovarian failure" RELATED [OMIM:110100]
synonym: "BPES with premature ovarian failure" RELATED [GARD:0000023]
synonym: "BPES without ovarian failure" RELATED [OMIM:110100]
synonym: "BPES, type 1" RELATED [OMIM:110100]
synonym: "BPES, type 2" RELATED [OMIM:110100]
synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100]
xref: DOID:14778 {source="MONDO:equivalentTo"}
xref: GARD:0000023 {source="MONDO:equivalentTo"}
xref: ICD10:Q10.3 {source="Orphanet:126", source="ORDO:126/attributed", source="ORDO:126/ntbt"}
xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="ORDO:126/e"}
xref: Orphanet:126 {source="GARD:0000023", source="MONDO:equivalentTo", source="OMIM:110100"}
xref: SCTID:715391004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0220663 {source="Orphanet:126", source="DOID:14778", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:110100"}
is_a: MONDO:0000426 {source="DOID:14778", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0008537 {source="Orphanet:126"} ! telecanthus
is_a: MONDO:0018413 {source="Orphanet:126"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019852 {source="Orphanet:126"} ! inherited primary ovarian failure
is_a: MONDO:0020162 {source="Orphanet:126"} ! secondary ectropion
is_a: MONDO:0020169 {source="Orphanet:126"} ! rare disorder with ptosis
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:126"} ! non-syndromic developmental defect of the eye
property_value: closeMatch http://identifiers.org/mesh/C562419
property_value: closeMatch http://identifiers.org/snomedct/79833006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862260
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862261
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862262
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862263
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862264
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970106
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931135
property_value: exactMatch DOID:14778
property_value: exactMatch http://identifiers.org/omim/110100
property_value: exactMatch http://identifiers.org/snomedct/715391004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220663
property_value: exactMatch Orphanet:126

[Term]
id: MONDO:0007202
name: blepharoptosis-myopia-ectopia lentis syndrome
def: "This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia." [Orphanet:1259]
subset: ordo_disease {source="Orphanet:1259"}
synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912]
synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150]
synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912]
xref: GARD:0000912 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q15.8 {source="ORDO:1259/attributed", source="ORDO:1259/ntbt", source="Orphanet:1259"}
xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e", source="MONDO:ontobio"}
xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e"}
xref: Orphanet:1259 {source="OMIM:110150", source="MONDO:equivalentTo"}
xref: SCTID:717915004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C1862259 {source="OMIM:110150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e"}
is_a: MONDO:0020236 {source="Orphanet:1259"} ! lens position anomaly
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1259"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C536236
property_value: exactMatch http://identifiers.org/omim/110150
property_value: exactMatch http://identifiers.org/snomedct/717915004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862259
property_value: exactMatch Orphanet:1259

[Term]
id: MONDO:0007203
name: blue rubber bleb nevus
def: "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." [Orphanet:1059]
subset: ordo_malformation_syndrome {source="Orphanet:1059"}
synonym: "bean syndrome" EXACT [OMIM:112200, Orphanet:1059]
synonym: "blue rubber bleb nevus" EXACT [OMIM:112200]
synonym: "blue rubber bleb nevus syndrome" RELATED [GARD:0005940]
synonym: "BRBN" EXACT [Orphanet:1059]
synonym: "BRBNS" RELATED [GARD:0005940]
xref: GARD:0005940 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q27.8 {source="Orphanet:1059", source="ORDO:1059/attributed", source="ORDO:1059/ntbt"}
xref: MESH:C536240 {source="Orphanet:1059", source="ORDO:1059/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4486 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:112200 {source="Orphanet:1059", source="ORDO:1059/e", source="MONDO:equivalentTo"}
xref: Orphanet:1059 {source="MONDO:equivalentTo", source="OMIM:112200"}
xref: SCTID:254784002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346072 {source="Orphanet:1059", source="NCBI:mim2gene_medline", source="ORDO:1059/e", source="MONDO:equivalentTo", source="OMIM:112200", source="NCIT:C4486"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease
is_a: MONDO:0015356 {source="Orphanet:1059"} ! hereditary neoplastic syndrome
is_a: MONDO:0018730 {source="MONDO:Redundant", source="Orphanet:1059"} ! rare genetic venous malformation
is_a: MONDO:0019293 {source="Orphanet:1059", source="linkedlifedata/inferred"} ! skin vascular disease
is_a: MONDO:0024255 ! genetic skin disease
relationship: excluded_subClassOf MONDO:0018715 {source="NCIT:C4486"} ! congenital hemangioma
property_value: exactMatch http://identifiers.org/mesh/C536240
property_value: exactMatch http://identifiers.org/omim/112200
property_value: exactMatch http://identifiers.org/snomedct/254784002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346072
property_value: exactMatch NCIT:C4486
property_value: exactMatch Orphanet:1059

[Term]
id: MONDO:0007204
name: Cole-Carpenter syndrome 1
def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features" RELATED [OMIM:112240]
synonym: "CLCRP1" RELATED [MONDO:Lexical, OMIM:112240]
synonym: "Cole-Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:112240]
synonym: "COLE-CARPENTER syndrome 1; CLCRP1" RELATED [OMIM:112240]
synonym: "Cole-Carpenter syndrome caused by mutation in P4HB" EXACT [MONDO:design_pattern]
synonym: "Cole-Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:112240]
synonym: "P4HB Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:112240 {source="MONDO:equivalentTo"}
xref: UMLS:C4317154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN029402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016085 {source="DC-OMIM:112240", source="MONDO:Redundant", source="MONDOLEX:0007204", source="OMIM:112240"} ! Cole-Carpenter syndrome
property_value: exactMatch http://identifiers.org/omim/112240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029402

[Term]
id: MONDO:0007205
name: diaphyseal medullary stenosis-bone malignancy syndrome
def: "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." [Orphanet:85182]
subset: ordo_disease {source="Orphanet:85182"}
synonym: "BDMF" RELATED [GARD:0010072]
synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [OMIM:112250]
synonym: "bone dysplasia with medullary fibrosarcoma" RELATED [OMIM:112250]
synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [Orphanet:85182]
synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma" RELATED [MONDO:Lexical, OMIM:112250]
synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma; DMSMFH" RELATED [OMIM:112250]
synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [Orphanet:85182]
synonym: "DMS-MFH" EXACT [NCIT:C122660]
synonym: "DMSMFH" RELATED [MONDO:Lexical, OMIM:112250]
synonym: "Hardcastle syndrome" EXACT [Orphanet:85182]
synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660]
synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250]
xref: GARD:0010072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M89.8 {source="ORDO:85182/attributed", source="ORDO:85182/ntbt", source="Orphanet:85182"}
xref: NCIT:C122660 {source="MONDO:equivalentTo"}
xref: OMIM:112250 {source="MONDO:equivalentTo", source="ORDO:85182/e", source="Orphanet:85182"}
xref: Orphanet:85182 {source="OMIM:112250", source="MONDO:equivalentTo"}
xref: UMLS:C1862177 {source="OMIM:112250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85182/e", source="Orphanet:85182", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0019060 {source="Orphanet:85182", source="indirect"} ! bone neoplasm
is_a: MONDO:0019703 {source="Orphanet:85182"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C536169
property_value: exactMatch http://identifiers.org/omim/112250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862177
property_value: exactMatch NCIT:C122660
property_value: exactMatch Orphanet:85182

[Term]
id: MONDO:0007206
name: bone pain, periodic
synonym: "bone pain, periodic" EXACT [OMIM:112270]
xref: OMIM:112270 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862176
property_value: exactMatch http://identifiers.org/omim/112270

[Term]
id: MONDO:0007207
name: Book syndrome
def: "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." [Orphanet:1262]
subset: ordo_malformation_syndrome {source="Orphanet:1262"}
synonym: "book syndrome" EXACT [OMIM:112300]
synonym: "Böök syndrome" EXACT [Orphanet:1262]
synonym: "PHC syndrome" RELATED [OMIM:112300]
synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932]
xref: GARD:0000932 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="ORDO:1262/attributed", source="ORDO:1262/ntbt", source="Orphanet:1262"}
xref: MESH:C562993 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112300 {source="MONDO:equivalentTo", source="Orphanet:1262", source="ORDO:1262/e"}
xref: Orphanet:1262 {source="MONDO:equivalentTo", source="OMIM:112300"}
xref: SCTID:722296002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.25"}
xref: UMLS:C0457014 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112300", source="Orphanet:1262"}
is_a: MONDO:0019287 {source="Orphanet:1262", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C562993
property_value: exactMatch http://identifiers.org/omim/112300
property_value: exactMatch http://identifiers.org/snomedct/722296002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457014
property_value: exactMatch Orphanet:1262

[Term]
id: MONDO:0007208
name: Boomerang dysplasia
def: "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." [Orphanet:1263]
subset: gard_rare {source="GARD:0000933"}
subset: ordo_disease {source="Orphanet:1263"}
synonym: "Boomerang dysplasia" EXACT [OMIM:112310]
synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933]
synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933]
xref: DOID:0050680 {source="MONDO:equivalentTo"}
xref: GARD:0000933 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:1263", source="ORDO:1263/attributed", source="ORDO:1263/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1263/e"}
xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="ORDO:1263/e", source="DOID:0050680"}
xref: Orphanet:1263 {source="MONDO:equivalentTo", source="OMIM:112310"}
xref: SCTID:254054000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432201 {source="Orphanet:1263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112310", source="ORDO:1263/e"}
is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0019690 {source="Orphanet:1263"} ! filamin-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:1263"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch DOID:0050680
property_value: exactMatch http://identifiers.org/mesh/C536573
property_value: exactMatch http://identifiers.org/omim/112310
property_value: exactMatch http://identifiers.org/snomedct/254054000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432201
property_value: exactMatch Orphanet:1263
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia xsd:anyURI {source="GARD:0000933"}

[Term]
id: MONDO:0007209
name: Weismann-Netter syndrome
def: "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." [Orphanet:3344]
subset: ordo_malformation_syndrome {source="Orphanet:3344"}
synonym: "anterior bowing of legs with dwarfism" EXACT [Orphanet:3344]
synonym: "bowing of legs, anterior with dwarfism" RELATED [GARD:0005232]
synonym: "bowing of legs, anterior, with dwarfism" RELATED [OMIM:112350]
synonym: "Toxopachyosteose Diaphysaire Tibio-Peroniere" RELATED [OMIM:112350]
synonym: "Weismann Netter syndrome" RELATED [GARD:0005232]
synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350]
synonym: "WEISMANN-NETTER syndrome; WNS" RELATED [OMIM:112350]
synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344]
synonym: "WNS" RELATED [MONDO:Lexical, OMIM:112350]
xref: GARD:0005232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:3344", source="ORDO:3344/attributed", source="ORDO:3344/ntbt"}
xref: MESH:C537082 {source="ORDO:3344/e", source="Orphanet:3344", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112350 {source="ORDO:3344/e", source="Orphanet:3344", source="MONDO:equivalentTo"}
xref: Orphanet:3344 {source="OMIM:112350", source="MONDO:equivalentTo"}
xref: SCTID:715532007 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C1862172 {source="ORDO:3344/e", source="OMIM:112350", source="Orphanet:3344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019698 {source="Orphanet:3344"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537082
property_value: exactMatch http://identifiers.org/omim/112350
property_value: exactMatch http://identifiers.org/snomedct/715532007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862172
property_value: exactMatch Orphanet:3344

[Term]
id: MONDO:0007210
name: Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
synonym: "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" EXACT [OMIM:112370]
xref: MESH:C566206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112370 {source="MONDO:equivalentTo"}
xref: UMLS:C1862171 {source="OMIM:112370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566206/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566206
property_value: exactMatch http://identifiers.org/omim/112370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862171

[Term]
id: MONDO:0007211
name: brachydactyly-arterial hypertension syndrome
def: "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." [Orphanet:1276]
subset: ordo_malformation_syndrome {source="Orphanet:1276"}
synonym: "Bilginturan brachydactyly" EXACT [Orphanet:1276]
synonym: "Bilginturan syndrome" EXACT [OMIM:112410, Orphanet:1276]
synonym: "brachydactyly type E with short stature and hypertension" RELATED [GARD:0000967]
synonym: "brachydactyly type E, with short stature and hypertension" EXACT [Orphanet:1276]
synonym: "brachydactyly with hypertension" RELATED [OMIM:112410]
synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [OMIM:112410]
synonym: "HTNB" RELATED [MONDO:Lexical, OMIM:112410]
synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410]
synonym: "hypertension and brachydactyly syndrome; HTNB" RELATED [OMIM:112410]
xref: GARD:0000967 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="Orphanet:1276", source="ORDO:1276/attributed", source="ORDO:1276/ntbt"}
xref: MESH:C537095 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112410 {source="ORDO:1276/e", source="Orphanet:1276", source="MONDO:equivalentTo"}
xref: Orphanet:1276 {source="MONDO:equivalentTo", source="OMIM:112410"}
xref: SCTID:720568003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.56"}
xref: UMLS:C1862170 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:1276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112410"}
is_a: MONDO:0015512 {source="Orphanet:1276"} ! genetic hypertension
is_a: MONDO:0019066 {source="Orphanet:1276", source="Orphanet:1276/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C537095
property_value: exactMatch http://identifiers.org/omim/112410
property_value: exactMatch http://identifiers.org/snomedct/720568003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862170
property_value: exactMatch Orphanet:1276

[Term]
id: MONDO:0007212
name: brachydactyly-long thumb syndrome
def: "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." [Orphanet:2946]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2946"}
synonym: "brachydactyly long thumb type" RELATED [GARD:0000968]
synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946]
synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430]
synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430]
xref: GARD:0000968 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:2946/attributed", source="ORDO:2946/ntbt", source="Orphanet:2946"}
xref: MESH:C566204 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112430 {source="MONDO:equivalentTo", source="Orphanet:2946", source="ORDO:2946/e", source="GARD:0000968"}
xref: Orphanet:2946 {source="MONDO:equivalentTo", source="OMIM:112430", source="GARD:0000968"}
xref: SCTID:733454004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112430", source="Orphanet:2946", source="GARD:0000968"}
is_a: MONDO:0015110 {source="Orphanet:2946"} ! genetic cardiac rhythm disease
is_a: MONDO:0016432 {source="Orphanet:2946"} ! heart-hand syndrome
is_a: MONDO:0019066 {source="Orphanet:2946", source="Orphanet:2946/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C566204
property_value: exactMatch http://identifiers.org/omim/112430
property_value: exactMatch http://identifiers.org/snomedct/733454004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862169
property_value: exactMatch Orphanet:2946
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type xsd:anyURI {source="GARD:0000968"}

[Term]
id: MONDO:0007213
name: Ballard syndrome
def: "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." [Orphanet:93395]
subset: ordo_malformation_syndrome {source="Orphanet:93395"}
synonym: "Ballard type brachydactyly" EXACT [DOID:0110963]
synonym: "brachydactyly Ballard type" RELATED [GARD:0000959]
synonym: "brachydactyly combined B and E types" RELATED [GARD:0000959]
synonym: "brachydactyly types B and E combined" EXACT [DOID:0110963, Orphanet:93395]
synonym: "brachydactyly, Ballard type" RELATED [OMIM:112440]
synonym: "brachydactyly, combined B and E types" RELATED [OMIM:112440]
synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959]
synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395]
xref: DOID:0110963 {source="MONDO:equivalentTo"}
xref: GARD:0000959 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="ORDO:93395/attributed", source="ORDO:93395/ntbt"}
xref: MESH:C537094 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="ORDO:93395/e"}
xref: Orphanet:93395 {source="DOID:0110963", source="OMIM:112440", source="MONDO:equivalentTo"}
xref: SCTID:722298001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.36"}
xref: UMLS:C1862163 {source="Orphanet:93395", source="MEDGEN:kboom-pr97-c99", source="OMIM:112440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:93395", source="Orphanet:93395/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110963
property_value: exactMatch http://identifiers.org/mesh/C537094
property_value: exactMatch http://identifiers.org/omim/112440
property_value: exactMatch http://identifiers.org/snomedct/722298001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862163
property_value: exactMatch Orphanet:93395

[Term]
id: MONDO:0007214
name: brachydactyly-preaxial hallux varus syndrome
def: "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." [Orphanet:1278]
subset: ordo_malformation_syndrome {source="Orphanet:1278"}
synonym: "brachydactyly preaxial with hallux varus and thumb abduction" RELATED [GARD:0000972]
synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [OMIM:112450]
synonym: "Christian brachydactyly" EXACT [DOID:0110962, OMIM:112450]
synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" RELATED [GARD:0000972]
synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962]
xref: DOID:0110962 {source="MONDO:equivalentTo"}
xref: GARD:0000972 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="DOID:0110962", source="Orphanet:1278", source="ORDO:1278/attributed", source="ORDO:1278/ntbt"}
xref: MESH:C537087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112450 {source="DOID:0110962", source="ORDO:1278/e", source="Orphanet:1278", source="MONDO:equivalentTo"}
xref: Orphanet:1278 {source="DOID:0110962", source="OMIM:112450", source="MONDO:equivalentTo"}
xref: UMLS:C1862162 {source="NCBI:mim2gene_medline", source="OMIM:112450", source="Orphanet:1278", source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:1278", source="Orphanet:1278/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110962
property_value: exactMatch http://identifiers.org/mesh/C537087
property_value: exactMatch http://identifiers.org/omim/112450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862162
property_value: exactMatch Orphanet:1278

[Term]
id: MONDO:0007215
name: brachydactyly type A1
def: "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." [Orphanet:93388]
subset: gard_rare {source="GARD:0000978"}
subset: ordo_malformation_syndrome {source="Orphanet:93388"}
synonym: "BDA1" EXACT [DOID:0110964, MONDO:Lexical, OMIM:112500]
synonym: "brachydactyly Farabee type" RELATED [GARD:0000978]
synonym: "brachydactyly, Farabee type" EXACT [Orphanet:93388]
synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical, OMIM:112500]
synonym: "brachydactyly, type A1; BDA1" RELATED [OMIM:112500]
synonym: "Farabee type brachydactyly" EXACT [DOID:0110964]
synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500]
xref: DOID:0110964 {source="MONDO:equivalentTo"}
xref: GARD:0000978 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:93388", source="ORDO:93388/attributed", source="ORDO:93388/ntbt"}
xref: MESH:C537088 {source="ORDO:93388/e", source="Orphanet:93388", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"}
xref: SCTID:715720006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1862151 {source="MEDGEN:kboom-pr97-c99", source="ORDO:93388/e", source="Orphanet:93388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112500"}
is_a: MONDO:0019066 {source="Orphanet:93388", source="Orphanet:93388/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110964
property_value: exactMatch http://identifiers.org/mesh/C537088
property_value: exactMatch http://identifiers.org/omim/112500
property_value: exactMatch http://identifiers.org/snomedct/715720006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862151
property_value: exactMatch Orphanet:93388
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 xsd:anyURI {source="GARD:0000978"}

[Term]
id: MONDO:0007216
name: brachydactyly type A2
def: "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." [Orphanet:93396]
subset: gard_rare {source="GARD:0000979"}
subset: ordo_malformation_syndrome {source="Orphanet:93396"}
synonym: "BDA2" EXACT [DOID:0110965, MONDO:Lexical, OMIM:112600]
synonym: "brachydactyly, Mohr-Wriedt type" EXACT [Orphanet:93396]
synonym: "brachydactyly, type A2" RELATED [MONDO:Lexical, OMIM:112600]
synonym: "brachydactyly, type A2; BDA2" RELATED [OMIM:112600]
synonym: "Brachymesophalangy 2" RELATED [OMIM:112600]
synonym: "brachymesophalangy II" EXACT [DOID:0110965]
synonym: "Brachymesophalangy type 2" RELATED [GARD:0000989]
synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600]
xref: DOID:0110965 {source="MONDO:equivalentTo"}
xref: GARD:0000979 {source="MONDO:equivalentTo"}
xref: GARD:0000989 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="DOID:0110965", source="Orphanet:93396", source="ORDO:93396/attributed", source="ORDO:93396/ntbt"}
xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:93396/e"}
xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="ORDO:93396/e"}
xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source="OMIM:112600"}
xref: SCTID:720569006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019066 {source="Orphanet:93396", source="Orphanet:93396/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110965
property_value: exactMatch http://identifiers.org/mesh/C537089
property_value: exactMatch http://identifiers.org/omim/112600
property_value: exactMatch http://identifiers.org/snomedct/720569006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832702
property_value: exactMatch Orphanet:93396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 xsd:anyURI {source="GARD:0000979"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2 xsd:anyURI {source="GARD:0000989"}

[Term]
id: MONDO:0007217
name: brachydactyly type A3
comment: Editor note: OMIM xrefs Orphanet:93393 but this appears not to exist
subset: gard_rare {source="GARD:0000963"}
synonym: "BDA3" EXACT [DOID:0110966, MONDO:Lexical, OMIM:112700]
synonym: "brachydactyly, type A3" RELATED [MONDO:Lexical, OMIM:112700]
synonym: "brachydactyly, type A3; BDA3" RELATED [OMIM:112700]
synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700]
synonym: "Brachymesophalangy 5" RELATED [OMIM:112700]
synonym: "brachymesophalangy V" EXACT [DOID:0110966]
xref: DOID:0110966 {source="MONDO:equivalentTo"}
xref: GARD:0000963 {source="MONDO:equivalentTo"}
xref: MESH:C537090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112700 {source="DOID:0110966", source="MONDO:equivalentTo"}
xref: UMLS:C1862140 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112700"}
is_a: MONDO:0019066 {source="MONDO:cjm"} ! syndrome with brachydactyly
property_value: closeMatch Orphanet:93393
property_value: exactMatch DOID:0110966
property_value: exactMatch http://identifiers.org/mesh/C537090
property_value: exactMatch http://identifiers.org/omim/112700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862140
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3 xsd:anyURI {source="GARD:0000963"}

[Term]
id: MONDO:0007218
name: brachydactyly type A4
def: "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." [Orphanet:93394]
subset: gard_rare {source="GARD:0000990"}
subset: ordo_malformation_syndrome {source="Orphanet:93394"}
synonym: "BDA4" EXACT [DOID:0110967, MONDO:Lexical, OMIM:112800]
synonym: "brachydactyly Temtamy type" RELATED [GARD:0000990]
synonym: "brachydactyly, Temtamy type" EXACT [Orphanet:93394]
synonym: "brachydactyly, type A4" RELATED [MONDO:Lexical, OMIM:112800]
synonym: "brachydactyly, type A4; BDA4" RELATED [OMIM:112800]
synonym: "Brachymesophalangy 2 and 5" RELATED [OMIM:112800]
synonym: "Brachymesophalangy II and V" EXACT [Orphanet:93394]
synonym: "brachymesophalangy II and V" EXACT [DOID:0110967]
synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800]
xref: DOID:0110967 {source="MONDO:equivalentTo"}
xref: GARD:0000990 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="ORDO:93394/attributed", source="ORDO:93394/ntbt"}
xref: MESH:C537097 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="ORDO:93394/e"}
xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"}
xref: SCTID:715721005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019066 {source="Orphanet:93394", source="Orphanet:93394/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862139
property_value: exactMatch DOID:0110967
property_value: exactMatch http://identifiers.org/mesh/C537097
property_value: exactMatch http://identifiers.org/omim/112800
property_value: exactMatch http://identifiers.org/snomedct/715721005
property_value: exactMatch Orphanet:93394
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 xsd:anyURI {source="GARD:0000990"}

[Term]
id: MONDO:0007219
name: brachydactyly type A6
def: "Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." [Orphanet:93382]
subset: gard_rare {source="GARD:0000983"}
subset: ordo_malformation_syndrome {source="Orphanet:93382"}
synonym: "BDA6" EXACT [DOID:0110968]
synonym: "brachydactyly, type A6" RELATED [OMIM:112910]
synonym: "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" RELATED [OMIM:112910]
synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [DOID:0110968]
synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910]
synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382]
xref: DOID:0110968 {source="MONDO:equivalentTo"}
xref: GARD:0000983 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="DOID:0110968", source="ORDO:93382/attributed", source="ORDO:93382/ntbt", source="Orphanet:93382"}
xref: MESH:C537092 {source="MONDO:equivalentTo", source="DOID:0110968", source="MONDO:ontobio", source="ORDO:93382/e", source="Orphanet:93382"}
xref: OMIM:112910 {source="MONDO:equivalentTo", source="DOID:0110968", source="ORDO:93382/e", source="Orphanet:93382"}
xref: Orphanet:93382 {source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910"}
xref: SCTID:715722003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1862130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910", source="ORDO:93382/e", source="Orphanet:93382"}
is_a: MONDO:0019066 {source="Orphanet:93382", source="Orphanet:93382/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019696 {source="Orphanet:93382"} ! acromesomelic dysplasia
property_value: exactMatch DOID:0110968
property_value: exactMatch http://identifiers.org/mesh/C537092
property_value: exactMatch http://identifiers.org/omim/112910
property_value: exactMatch http://identifiers.org/snomedct/715722003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862130
property_value: exactMatch Orphanet:93382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 xsd:anyURI {source="GARD:0000983"}

[Term]
id: MONDO:0007220
name: brachydactyly type B1
def: "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDB1" EXACT [DOID:0110969, MONDO:Lexical, OMIM:113000]
synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type B" RELATED [OMIM:113000]
synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000]
synonym: "brachydactyly, type B1; BDB1" RELATED [OMIM:113000]
synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110969 {source="MONDO:equivalentTo"}
xref: MESH:C566196 {source="MONDO:equivalentTo"}
xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"}
is_a: MONDO:0019676 {source="MONDO:Redundant", source="MONDO:cjm"} ! brachydactyly type B
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862112
property_value: exactMatch DOID:0110969
property_value: exactMatch http://identifiers.org/mesh/C566196
property_value: exactMatch http://identifiers.org/omim/113000

[Term]
id: MONDO:0007221
name: brachydactyly type C
subset: ordo_malformation_syndrome {source="Orphanet:93384"}
synonym: "BDC" EXACT EXCLUDE [DOID:0110970]
synonym: "BDC" RELATED [MONDO:Lexical, OMIM:113100]
synonym: "brachydactyly Haws type" RELATED [GARD:0000986]
synonym: "brachydactyly, Haws type" RELATED [OMIM:113100]
synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100]
synonym: "brachydactyly, type C; BDC" RELATED [OMIM:113100]
xref: DOID:0110970 {source="MONDO:equivalentTo"}
xref: GARD:0000986 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="Orphanet:93384", source="DOID:0110970", source="ORDO:93384/attributed", source="ORDO:93384/ntbt"}
xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0110970", source="ORDO:93384/e"}
xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="DOID:0110970", source="ORDO:93384/e"}
xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"}
xref: UMLS:C1862103 {source="Orphanet:93384", source="OMIM:113100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110970", source="ORDO:93384/e"}
is_a: MONDO:0019066 {source="Orphanet:93384", source="Orphanet:93384/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110970
property_value: exactMatch http://identifiers.org/mesh/C537093
property_value: exactMatch http://identifiers.org/omim/113100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862103
property_value: exactMatch Orphanet:93384

[Term]
id: MONDO:0007222
name: brachydactyly type D
def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1." [DOID:0110971, PMID:12649808]
comment: Editor note: OMIM xrefs Orphanet ID that does not appear to exist
synonym: "BDD" EXACT [DOID:0110971, MONDO:Lexical, OMIM:113200]
synonym: "brachydactyly, type D" RELATED [MONDO:Lexical, OMIM:113200]
synonym: "brachydactyly, type D; BDD" RELATED [OMIM:113200]
synonym: "stub thumb" RELATED [OMIM:113200]
xref: DOID:0110971 {source="MONDO:equivalentTo"}
xref: MESH:C562420 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113200 {source="MONDO:equivalentTo", source="DOID:0110971"}
is_a: MONDO:0019066 {source="MONDO:cjm"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220664
property_value: closeMatch Orphanet:93385
property_value: exactMatch DOID:0110971
property_value: exactMatch http://identifiers.org/mesh/C562420
property_value: exactMatch http://identifiers.org/omim/113200

[Term]
id: MONDO:0007223
name: brachydactyly type E1
def: "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDE1" EXACT [DOID:0110972, MONDO:Lexical, OMIM:113300]
synonym: "brachydactyly type E caused by mutation in HOXD13" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type E" RELATED [OMIM:113300]
synonym: "brachydactyly, type E1" RELATED [MONDO:Lexical, OMIM:113300]
synonym: "brachydactyly, type E1; BDE1" RELATED [OMIM:113300]
synonym: "HOXD13 brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110972 {source="MONDO:equivalentTo"}
xref: MESH:C566194 {source="MONDO:equivalentTo"}
xref: OMIM:113300 {source="MONDO:equivalentTo", source="DOID:0110972"}
is_a: MONDO:0019677 ! brachydactyly type E
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862102
property_value: exactMatch DOID:0110972
property_value: exactMatch http://identifiers.org/mesh/C566194
property_value: exactMatch http://identifiers.org/omim/113300

[Term]
id: MONDO:0007224
name: brachydactyly, type E, with atrial septal defect, type 2
synonym: "brachydactyly, type E, with atrial septal defect, type II" RELATED [OMIM:113301]
xref: MESH:C566193 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113301 {source="MONDO:equivalentTo"}
xref: UMLS:C1862101 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113301"}
is_a: MONDO:0019677 ! brachydactyly type E
property_value: exactMatch http://identifiers.org/mesh/C566193
property_value: exactMatch http://identifiers.org/omim/113301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862101

[Term]
id: MONDO:0007225
name: fibular aplasia-ectrodactyly syndrome
def: "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." [Orphanet:1118]
subset: ordo_malformation_syndrome {source="Orphanet:1118"}
synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310]
synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331]
xref: GARD:0002331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="ORDO:1118/attributed", source="ORDO:1118/ntbt", source="Orphanet:1118"}
xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="ORDO:1118/e", source="MONDO:ontobio"}
xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="ORDO:1118/e"}
xref: Orphanet:1118 {source="MONDO:equivalentTo", source="OMIM:113310"}
xref: UMLS:C1862100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113310", source="Orphanet:1118", source="ORDO:1118/e"}
is_a: MONDO:0017433 {source="Orphanet:1118"} ! dysostosis with combined reduction defects of upper and lower limbs
property_value: exactMatch http://identifiers.org/mesh/C537930
property_value: exactMatch http://identifiers.org/omim/113310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862100
property_value: exactMatch Orphanet:1118

[Term]
id: MONDO:0007226
name: brachydactyly-nystagmus-cerebellar ataxia syndrome
def: "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." [Orphanet:1246]
comment: Editor note: check GARD
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1246"}
synonym: "Biemond syndrome" EXACT [Orphanet:1246]
synonym: "Biemond syndrome type 1" RELATED [GARD:0000881]
synonym: "brachydactyly - nystagmus - cerebellar ataxia" RELATED [GARD:0000971]
synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971]
synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400]
xref: GARD:0000881 {source="MONDO:equivalentTo"}
xref: GARD:0000971 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1246", source="ORDO:1246/attributed", source="ORDO:1246/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566192 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113400 {source="Orphanet:1246", source="ORDO:1246/e", source="MONDO:equivalentTo"}
xref: Orphanet:1246 {source="MONDO:equivalentTo", source="OMIM:113400"}
xref: SCTID:205828009 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0007226"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862099
property_value: exactMatch http://identifiers.org/mesh/C566192
property_value: exactMatch http://identifiers.org/omim/113400
property_value: exactMatch http://identifiers.org/snomedct/205828009
property_value: exactMatch Orphanet:1246
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 xsd:anyURI {source="GARD:0000881"}

[Term]
id: MONDO:0007227
name: Sillence syndrome
def: "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." [Orphanet:3168]
subset: ordo_malformation_syndrome {source="Orphanet:3168"}
synonym: "brachydactyly-distal symphalangism syndrome" RELATED [OMIM:113450]
synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168]
xref: GARD:0004869 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="Orphanet:3168", source="ORDO:3168/attributed", source="ORDO:3168/ntbt"}
xref: MESH:C537338 {source="ORDO:3168/e", source="Orphanet:3168", source="MONDO:equivalentTo"}
xref: OMIM:113450 {source="ORDO:3168/e", source="Orphanet:3168", source="MONDO:equivalentTo"}
xref: Orphanet:3168 {source="OMIM:113450", source="MONDO:equivalentTo"}
xref: SCTID:732956000 {source="MONDO:equivalentTo"}
xref: UMLS:C1862092 {source="ORDO:3168/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:113450", source="Orphanet:3168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:3168"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C537338
property_value: exactMatch http://identifiers.org/omim/113450
property_value: exactMatch http://identifiers.org/snomedct/732956000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862092
property_value: exactMatch Orphanet:3168

[Term]
id: MONDO:0007228
name: brachymesomelia-renal syndrome
synonym: "brachymesomelia renal syndrome" RELATED [GARD:0000988]
synonym: "brachymesomelia-renal syndrome" EXACT [OMIM:113470]
synonym: "severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities" RELATED [GARD:0000988]
xref: GARD:0000988 {source="MONDO:equivalentTo"}
xref: MESH:C537096 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113470 {source="MONDO:equivalentTo", source="GARD:0000988"}
xref: UMLS:C1862084 {source="OMIM:113470", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000988"}
is_a: MONDO:0003847 {source="MESH:C537096/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537096
property_value: exactMatch http://identifiers.org/omim/113470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862084

[Term]
id: MONDO:0007229
name: Brachymetatarsus 4
synonym: "BRACHYMETATARSUS IV" RELATED [OMIM:113475]
synonym: "Brachymetatarsus type 4" EXACT [MONDORULE:1, OMIM:113475]
synonym: "metatarsus IV, short" RELATED [OMIM:113475]
synonym: "toe, fourth, short" RELATED [OMIM:113475]
xref: OMIM:113475 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862083
property_value: exactMatch http://identifiers.org/omim/113475

[Term]
id: MONDO:0007230
name: Brachymorphism-onychodysplasia-dysphalangism syndrome
def: "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants." [Orphanet:1292]
subset: ordo_malformation_syndrome {source="Orphanet:1292"}
synonym: "bod syndrome" EXACT [OMIM:113477, Orphanet:1292]
synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0000918]
synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477]
synonym: "Senior syndrome" EXACT [Orphanet:1292]
xref: GARD:0000918 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:1292/attributed", source="ORDO:1292/ntbt", source="Orphanet:1292"}
xref: MESH:C536242 {source="MONDO:equivalentTo", source="ORDO:1292/e", source="MONDO:ontobio", source="Orphanet:1292"}
xref: OMIM:113477 {source="MONDO:equivalentTo", source="ORDO:1292/e", source="Orphanet:1292"}
xref: Orphanet:1292 {source="MONDO:equivalentTo", source="OMIM:113477"}
xref: SCTID:720573009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.40"}
xref: UMLS:C1862082 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113477", source="ORDO:1292/e", source="Orphanet:1292"}
is_a: MONDO:0019066 {source="Orphanet:1292", source="Orphanet:1292/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1292"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C536242
property_value: exactMatch http://identifiers.org/omim/113477
property_value: exactMatch http://identifiers.org/snomedct/720573009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862082
property_value: exactMatch Orphanet:1292

[Term]
id: MONDO:0007231
name: brachytelephalangy-dysmorphism-Kallmann syndrome
def: "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." [Orphanet:1295]
subset: ordo_malformation_syndrome {source="Orphanet:1295"}
synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480]
xref: ICD10:Q87.0 {source="ORDO:1295/attributed", source="ORDO:1295/ntbt", source="Orphanet:1295"}
xref: MESH:C537101 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113480 {source="MONDO:equivalentTo", source="Orphanet:1295", source="ORDO:1295/e"}
xref: Orphanet:1295 {source="OMIM:113480", source="MONDO:equivalentTo"}
xref: UMLS:C2931421 {source="OMIM:113480", source="MONDO:equivalentTo", source="Orphanet:1295"}
is_a: MONDO:0015890 {source="Orphanet:1295"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0019066 {source="Orphanet:1295", source="Orphanet:1295/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1295"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862081
property_value: exactMatch http://identifiers.org/mesh/C537101
property_value: exactMatch http://identifiers.org/omim/113480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931421
property_value: exactMatch Orphanet:1295

[Term]
id: MONDO:0007232
name: autosomal dominant brachyolmia
def: "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." [Orphanet:93304]
subset: ordo_malformation_syndrome {source="Orphanet:93304"}
synonym: "BCYM3" RELATED [MONDO:Lexical, OMIM:113500]
synonym: "brachyolmia autosomal dominant" RELATED [GARD:0010429]
synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304]
synonym: "brachyolmia type 3; BCYM3" RELATED [OMIM:113500]
synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500]
synonym: "brachyrachia" RELATED [OMIM:113500]
xref: GARD:0010429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q76.3 {source="ORDO:93304/attributed", source="ORDO:93304/ntbt", source="Orphanet:93304"}
xref: OMIM:113500 {source="MONDO:equivalentTo", source="ORDO:93304/e", source="Orphanet:93304"}
xref: Orphanet:93304 {source="MONDO:equivalentTo", source="OMIM:113500"}
xref: SCTID:717264003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015262 {source="DC-OMIM:113500", source="MONDO:Redundant", source="Orphanet:93304", source="linkedlifedata"} ! brachyolmia
is_a: MONDO:0018240 {source="Orphanet:93304"} ! TRPV4-related bone disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432227
property_value: exactMatch http://identifiers.org/omim/113500
property_value: exactMatch http://identifiers.org/snomedct/717264003
property_value: exactMatch Orphanet:93304

[Term]
id: MONDO:0007233
name: second branchial cleft anomaly
def: "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." [NCIT:C104813]
subset: ordo_morphological_anomaly {source="Orphanet:141022"}
synonym: "branchial cleft" EXACT [NCIT:C104813]
synonym: "branchial cleft anomalies" RELATED [OMIM:113600]
synonym: "branchial cleft remnant" EXACT [NCIT:C104813]
synonym: "branchial cysts" RELATED [OMIM:113600]
synonym: "second branchial cleft cyst" EXACT [Orphanet:141022]
synonym: "second branchial cleft fistula" EXACT [Orphanet:141022]
xref: ICD10:Q18.0 {source="Orphanet:141022", source="ORDO:141022/ntbt"}
xref: NCIT:C104813 {source="MONDO:equivalentTo"}
xref: OMIM:113600 {source="ORDO:141022/e", source="Orphanet:141022", source="MONDO:equivalentTo"}
xref: Orphanet:141022 {source="MONDO:equivalentTo", source="OMIM:113600"}
xref: SCTID:73381000119100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015476 {source="Orphanet:141022"} ! cysts and fistulae of the face and oral cavity
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006131
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079037
property_value: exactMatch http://identifiers.org/omim/113600
property_value: exactMatch http://identifiers.org/snomedct/73381000119100
property_value: exactMatch NCIT:C104813
property_value: exactMatch Orphanet:141022

[Term]
id: MONDO:0007234
name: branchial myoclonus with spastic paraparesis and cerebellar ataxia
synonym: "branchial myoclonus with spastic paraparesis and cerebellar ataxia" EXACT [OMIM:113610]
xref: MESH:C566188 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113610 {source="MONDO:equivalentTo"}
xref: UMLS:C1862071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113610"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566188
property_value: exactMatch http://identifiers.org/omim/113610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862071

[Term]
id: MONDO:0007235
name: branchiooculofacial syndrome
def: "Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." [Orphanet:1297]
subset: gard_rare {source="GARD:0003212"}
subset: ordo_malformation_syndrome {source="Orphanet:1297"}
synonym: "Bof syndrome" RELATED [OMIM:113620]
synonym: "BOFS" EXACT [MONDO:Lexical, OMIM:113620, Orphanet:1297]
synonym: "BOFS syndrome" RELATED [GARD:0003212]
synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" RELATED [GARD:0003212]
synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" RELATED [OMIM:113620]
synonym: "branchio-oculo-facial syndrome" RELATED [Orphanet:1297]
synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620]
synonym: "branchiooculofacial syndrome; BOFS" RELATED [OMIM:113620]
synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" RELATED [OMIM:113620]
synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" RELATED [OMIM:113620]
xref: DOID:0050691 {source="MONDO:equivalentTo"}
xref: GARD:0003212 {source="MONDO:equivalentTo"}
xref: ICD10:Q18.8 {source="Orphanet:1297", source="ORDO:1297/attributed", source="ORDO:1297/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:113620 {source="Orphanet:1297", source="ORDO:1297/e", source="MONDO:equivalentTo", source="DOID:0050691"}
xref: Orphanet:1297 {source="MONDO:equivalentTo", source="OMIM:113620"}
xref: SCTID:449821007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000426 {source="DOID:0050691", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015335 {source="Orphanet:1297"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1297"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0050691
property_value: exactMatch http://identifiers.org/omim/113620
property_value: exactMatch http://identifiers.org/snomedct/449821007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376524
property_value: exactMatch Orphanet:1297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome xsd:anyURI {source="GARD:0003212"}

[Term]
id: MONDO:0007236
name: branchiootorenal syndrome 1
synonym: "BOR1" RELATED [MONDO:Lexical, OMIM:113650]
synonym: "branchiootorenal dysplasia" RELATED [OMIM:113650]
synonym: "branchiootorenal syndrome 1" EXACT [MONDO:Lexical, OMIM:113650]
synonym: "branchiootorenal syndrome 1; BOR1" RELATED [OMIM:113650]
synonym: "branchiootorenal syndrome type 1" EXACT [MONDORULE:1, OMIM:113650]
synonym: "Melnick-Fraser syndrome" RELATED [OMIM:113650]
xref: OMIM:113650 {source="MONDO:equivalentTo"}
is_a: MONDO:0007029 {source="DC-OMIM:113650"} ! branchio-oto-renal syndrome
property_value: exactMatch http://identifiers.org/omim/113650

[Term]
id: MONDO:0007237
name: familial juvenile hypertrophy of the breast
def: "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." [Orphanet:180176]
subset: ordo_morphological_anomaly {source="Orphanet:180176"}
synonym: "familial juvenile gigantomastia" EXACT [Orphanet:180176]
synonym: "gigantomastia, juvenile" RELATED [OMIM:113670]
synonym: "hypertrophy of the breast, juvenile" RELATED [MONDO:Lexical, OMIM:113670]
synonym: "hypertrophy of the breast, juvenile; JHB" RELATED [OMIM:113670]
synonym: "JHB" RELATED [MONDO:Lexical, OMIM:113670]
synonym: "juvenile gigantomastia" EXACT [https://en.wikipedia.org/wiki/Breast_hypertrophy]
synonym: "juvenile macromastia" EXACT [https://en.wikipedia.org/wiki/Breast_hypertrophy]
synonym: "virginal breast hypertrophy" EXACT [https://en.wikipedia.org/wiki/Breast_hypertrophy, Orphanet:180176]
synonym: "virginal mammary hypertrophy" EXACT [https://en.wikipedia.org/wiki/Breast_hypertrophy]
xref: ICD10:N62 {source="ORDO:180176/ntbt", source="MONDO:relatedTo", source="Orphanet:180176"}
xref: MESH:C536821 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113670 {source="MONDO:equivalentTo", source="Orphanet:180176", source="ORDO:180176/e"}
xref: Orphanet:180176 {source="OMIM:113670", source="MONDO:equivalentTo"}
xref: UMLS:CN226754 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015852 {source="Orphanet:180176"} ! excess breast volume or number
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0405471
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676048
property_value: exactMatch http://identifiers.org/mesh/C536821
property_value: exactMatch http://identifiers.org/omim/113670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226754
property_value: exactMatch Orphanet:180176

[Term]
id: MONDO:0007238
name: amastia
def: "Absence of one or both mammary glands." [NCIT:C118459]
subset: gard_rare
synonym: "absent breasts and nipples" RELATED [GARD:0009489]
synonym: "amastia" EXACT [GARD:0009489, OMIM:113700]
synonym: "amazia" RELATED [OMIM:113700]
synonym: "athelia" RELATED [MESH:C535565, OMIM:113700]
synonym: "BNAH1" RELATED [MONDO:Lexical, OMIM:113700]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" RELATED [MONDO:Lexical, OMIM:113700]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1; BNAH1" RELATED [OMIM:113700]
synonym: "complete absence of breasts" RELATED [GARD:0009489, MESH:C535565]
xref: GARD:0009489 {source="MONDO:equivalentTo"}
xref: MESH:C535565 {source="MONDO:equivalentTo"}
xref: NCIT:C118459 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
xref: OMIM:113700 {source="MONDO:equivalentTo", source="GARD:0009489"}
xref: SCTID:75474006 {source="MONDO:kboom-pr-0.75/0.46/0.17", source="MONDO:equivalentTo"}
xref: UMLS:CN033494 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015855 {source="OMIM:113700", source="ORDO:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175755
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432357
property_value: exactMatch http://identifiers.org/mesh/C535565
property_value: exactMatch http://identifiers.org/omim/113700
property_value: exactMatch http://identifiers.org/snomedct/75474006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033494
property_value: exactMatch NCIT:C118459
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples xsd:anyURI {source="GARD:0009489"}

[Term]
id: MONDO:0007239
name: epidermolytic hyperkeratosis
def: "Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." [Orphanet:312]
comment: Editor note: check this. Should there be a generic form as well as AD form? Form for each gene?
subset: ordo_disease {source="Orphanet:312"}
synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [Orphanet:312]
synonym: "BCIE" EXACT [Orphanet:312]
synonym: "bullous congenital ichthyosiform erythroderma" EXACT [DOID:4603, OMIM:113800, Orphanet:312]
synonym: "bullous congenital ichthyosiform erythroderma of Brock" EXACT [Orphanet:312]
synonym: "bullous erythroderma Ichthyosiformis congenita of Brocq" RELATED [OMIM:113800]
synonym: "bullous ichthyosiform erythroderma" RELATED [OMIM:113800]
synonym: "bullous ichthyosiform erythroderma congenita" RELATED [GARD:0001039]
synonym: "bullous ichthyosis" EXACT [Orphanet:312]
synonym: "congenital bullous ichthyosiform erythroderma" RELATED [GARD:0001039]
synonym: "EHK" EXACT [MONDO:Lexical, OMIM:113800, Orphanet:312]
synonym: "EI" EXACT [Orphanet:312]
synonym: "epidermolytic hyperkeratosis" EXACT [MONDO:Lexical, OMIM:113800, Orphanet:312]
synonym: "epidermolytic hyperkeratosis, late-onset" RELATED [OMIM:113800]
synonym: "epidermolytic hyperkeratosis; EHK" RELATED [OMIM:113800]
synonym: "epidermolytic ichthyosis" RELATED [OMIM:113800]
synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603]
synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312]
xref: DOID:4603 {source="MONDO:equivalentTo"}
xref: GARD:0001039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q80.3 {source="Orphanet:312", source="DOID:4603", source="ORDO:312/specific", source="ORDO:312/e"}
xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"}
xref: NCIT:C62569 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4603"}
xref: OMIM:113800 {source="Orphanet:312", source="MONDO:equivalentTo", source="DOID:4603", source="ORDO:312/e"}
xref: Orphanet:312 {source="MONDO:equivalentTo", source="OMIM:113800"}
xref: SCTID:254167000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.17", source="DOID:4603"}
is_a: MONDO:0017266 {source="Orphanet:312"} ! keratinopathic ichthyosis
property_value: closeMatch http://identifiers.org/snomedct/20512000
property_value: closeMatch http://identifiers.org/snomedct/239071005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862005
property_value: exactMatch DOID:4603
property_value: exactMatch http://identifiers.org/mesh/D017488
property_value: exactMatch http://identifiers.org/omim/113800
property_value: exactMatch http://identifiers.org/snomedct/254167000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079153
property_value: exactMatch NCIT:C62569
property_value: exactMatch Orphanet:312

[Term]
id: MONDO:0007240
name: progressive familial heart block, type 1A
def: "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block." [NCIT:C126651]
comment: Editor note: consider separating aquired and inherited
subset: gard_rare
synonym: "bundle branch block" RELATED EXCLUDE [OMIM:113900]
synonym: "Cardiac conduction defect, nonprogressive" RELATED [OMIM:113900]
synonym: "Cardiac conduction defect, progressive" RELATED [OMIM:113900]
synonym: "heart block progressive familial type 1" RELATED [GARD:0001093]
synonym: "heart block, nonprogressive" RELATED [OMIM:113900]
synonym: "heart block, progressive familial, type 1" RELATED [OMIM:113900]
synonym: "hereditary bundle branch system defect" RELATED [OMIM:113900]
synonym: "Lenegre disease" RELATED [https://en.wikipedia.org/wiki/Lev%27s_disease]
synonym: "Lenegre's disease" EXACT [https://en.wikipedia.org/wiki/Lev%27s_disease]
synonym: "Lenegre's syndrome" RELATED [https://en.wikipedia.org/wiki/Lev%27s_disease]
synonym: "Lenegre-Lev disease" RELATED [OMIM:113900]
synonym: "Lev disease" RELATED [https://en.wikipedia.org/wiki/Lev%27s_disease]
synonym: "PFHB1A" EXACT [DOID:0111074, GARD:0001093, MONDO:Lexical, OMIM:113900]
synonym: "Pfhbia" RELATED [OMIM:113900]
synonym: "progressive familial heart block caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "progressive familial heart block type 1A" RELATED [GARD:0001093]
synonym: "progressive familial heart block type IA" RELATED [DOID:0111074]
synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, OMIM:113900]
synonym: "progressive familial heart block, type IA; PFHB1A" RELATED [OMIM:113900]
synonym: "SCN5A progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: COHD:313791 {source="MONDO:equivalentTo"}
xref: DOID:0111074 {source="MONDO:equivalentTo"}
xref: EFO:0004138 {source="MONDO:equivalentTo"}
xref: GARD:0001093 {source="MONDO:equivalentTo"}
xref: MESH:D002037 {source="EFO:0004138", source="MONDO:equivalentTo"}
xref: NCIT:C126651 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: OMIM:113900 {source="EFO:0004138", source="DOID:0111074", source="MONDO:equivalentTo", source="GARD:0001093"}
is_a: MONDO:0005449 {source="EFO:0004138"} ! conduction system disorder
is_a: MONDO:0019490 {source="DC-OMIM:113900", source="DOID:0111074", source="MONDO:Redundant", source="OMIM:113900"} ! progressive familial heart block
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861983
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861984
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1879286
property_value: exactMatch DOID:0111074
property_value: exactMatch http://identifiers.org/mesh/D002037
property_value: exactMatch http://identifiers.org/omim/113900
property_value: exactMatch NCIT:C126651

[Term]
id: MONDO:0007241
name: bundle branch block, familial isolated complete right
synonym: "bundle branch block, familial isolated complete right" EXACT [OMIM:113950]
xref: MESH:C562759 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:113950 {source="MONDO:equivalentTo"}
xref: SCTID:233919006 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
xref: UMLS:C0340504 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113950"}
is_a: MONDO:0001662 {source="MONDO:cjm", source="linkedlifedata"} ! right bundle branch block (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562759
property_value: exactMatch http://identifiers.org/omim/113950
property_value: exactMatch http://identifiers.org/snomedct/233919006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340504

[Term]
id: MONDO:0007242
name: butyrylesterase 1
synonym: "butyrylesterase 1" EXACT [OMIM:113960]
synonym: "Butyrylesterase type 1" EXACT [MONDORULE:1, OMIM:113960]
xref: OMIM:113960 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861981
property_value: exactMatch http://identifiers.org/omim/113960

[Term]
id: MONDO:0007243
name: Burkitt lymphoma
def: "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." [Orphanet:543]
subset: ordo_disease {source="Orphanet:543"}
synonym: "BL" RELATED [MONDO:Lexical, OMIM:113970]
synonym: "Burkitt lymphoma" EXACT [MONDO:Lexical, NCIT:C2912, OMIM:113970]
synonym: "Burkitt lymphoma/leukaemia" EXACT [DOID:8584]
synonym: "Burkitt lymphoma; BL" RELATED [OMIM:113970]
synonym: "Burkitt's lymphoma" EXACT [DOID:8584, MTH:NOCODE, NCIT:C2912]
synonym: "Burkitt's tumor" EXACT [CSP2005:2004-6947, DOID:8584]
synonym: "Burkitt's tumor or lymphoma" EXACT [DOID:8584]
synonym: "malignant lymphoma, Burkitt's type" EXACT [DOID:8584, MTHICD9_2006:200.2]
synonym: "small non-cleaved cell lymphoma" EXACT [Orphanet:543]
synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCIT:C2912]
xref: COHD:4041800 {source="MONDO:equivalentTo"}
xref: DOID:8584 {source="MONDO:equivalentTo", source="EFO:0000309"}
xref: EFO:0000309 {source="MONDO:equivalentTo"}
xref: GARD:0005973 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C83.7 {source="Orphanet:543", source="ORDO:543/e", source="DOID:8584"}
xref: ICD10:C83.70 {source="DOID:8584"}
xref: ICD9:200.2 {source="DOID:8584", source="EFO:0000309"}
xref: ICDO:9687/3 {source="NCIT:C2912"}
xref: MedDRA:10006595 {source="Orphanet:543", source="ORDO:543/e"}
xref: MedDRA:10053518 {source="Orphanet:543", source="ORDO:543/e"}
xref: MedDRA:10067184 {source="Orphanet:543", source="ORDO:543/e"}
xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"}
xref: NCIT:C2912 {source="MONDO:equivalentTo", source="DOID:8584", source="EFO:0000309", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"}
xref: ONCOTREE:BL {source="MONDO:equivalentTo"}
xref: Orphanet:543 {source="MONDO:equivalentTo", source="OMIM:113970"}
xref: SCTID:118617000 {source="MONDO:kboom-pr-1.00/0.79/7.85", source="MONDO:equivalentTo", source="DOID:8584"}
xref: UMLS:C0006413 {source="NCIT:C2912", source="Orphanet:543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113970", source="ORDO:543/e", source="DOID:8584"}
is_a: MONDO:0004949 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells
is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0017595 {source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/154581008
property_value: closeMatch http://identifiers.org/snomedct/188509006
property_value: closeMatch http://identifiers.org/snomedct/188518008
property_value: closeMatch http://identifiers.org/snomedct/190022008
property_value: closeMatch http://identifiers.org/snomedct/190023003
property_value: closeMatch http://identifiers.org/snomedct/22197008
property_value: closeMatch http://identifiers.org/snomedct/397400006
property_value: closeMatch http://identifiers.org/snomedct/77381001
property_value: closeMatch NCIT:C7400
property_value: exactMatch DOID:8584
property_value: exactMatch http://identifiers.org/meddra/10006595
property_value: exactMatch http://identifiers.org/meddra/10053518
property_value: exactMatch http://identifiers.org/meddra/10067184
property_value: exactMatch http://identifiers.org/mesh/D002051
property_value: exactMatch http://identifiers.org/omim/113970
property_value: exactMatch http://identifiers.org/snomedct/118617000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079770
property_value: exactMatch NCIT:C2912
property_value: exactMatch Orphanet:543

[Term]
id: MONDO:0007244
name: Caffey disease
def: "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." [Orphanet:1310]
subset: ordo_malformation_syndrome {source="Orphanet:1310"}
synonym: "Caffey disease" EXACT [NCIT:C118423, OMIM:114000]
synonym: "cortical congenital hyperostosis" EXACT [DOID:4257]
synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310]
xref: DOID:4257 {source="MONDO:equivalentTo"}
xref: GARD:0001051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M89.8 {source="DOID:4257", source="Orphanet:1310", source="ORDO:1310/attributed", source="ORDO:1310/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006958 {source="DOID:4257", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118423 {source="DOID:4257", source="MONDO:equivalentTo"}
xref: OMIM:114000 {source="DOID:4257", source="Orphanet:1310", source="ORDO:1310/e", source="MONDO:equivalentTo"}
xref: Orphanet:1310 {source="OMIM:114000", source="MONDO:equivalentTo"}
xref: SCTID:24752008 {source="DOID:4257", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0020497 {source="DOID:4257", source="OMIM:114000", source="Orphanet:1310", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002185 {source="MESH:D006958", source="NCIT:C118423", source="linkedlifedata"} ! hyperostosis
is_a: MONDO:0002614 {source="DOID:4257"} ! bone inflammation disease
is_a: MONDO:0019702 {source="Orphanet:1310"} ! neonatal osteosclerotic dysplasia
property_value: closeMatch http://identifiers.org/snomedct/123258003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861980
property_value: closeMatch NCIT:C84645
property_value: exactMatch DOID:4257
property_value: exactMatch http://identifiers.org/mesh/D006958
property_value: exactMatch http://identifiers.org/omim/114000
property_value: exactMatch http://identifiers.org/snomedct/24752008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020497
property_value: exactMatch NCIT:C118423
property_value: exactMatch Orphanet:1310

[Term]
id: MONDO:0007245
name: neurofibromatosis type 6
def: "Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafC)-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." [Orphanet:2678]
subset: gard_rare {source="GARD:0003967"}
subset: ordo_malformation_syndrome {source="Orphanet:2678"}
synonym: "autosomal dominant CAFé au lait spots" RELATED [GARD:0003967]
synonym: "cafe au lait spots, multiple" RELATED [GARD:0001050]
synonym: "cafe-AU-lait SPOTS, multiple" RELATED [OMIM:114030]
synonym: "familial cafC)-au-lait spots" EXACT [Orphanet:2678]
synonym: "familial cafeB4-au-lait spots" RELATED [GARD:0003967]
synonym: "familial cafe´-au-lait spots" RELATED [GARD:0003967]
synonym: "familial CAFé-au-lait spots" EXACT [Orphanet:2678]
synonym: "multiple cafC)-au-lait spots" EXACT [Orphanet:2678]
synonym: "multiple cafC)-au-lait syndrome" EXACT [Orphanet:2678]
synonym: "multiple cafe-au-lait spots" RELATED [GARD:0001050]
synonym: "multiple cafeB4-au-lait spots" RELATED [GARD:0003967]
synonym: "multiple cafeB4-au-lait syndrome" RELATED [GARD:0003967]
synonym: "multiple cafe´-au-lait spots" RELATED [GARD:0003967]
synonym: "multiple cafe´-au-lait syndrome" RELATED [GARD:0003967]
synonym: "multiple CAFé-au-lait spots" EXACT [Orphanet:2678]
synonym: "multiple CAFé-au-lait syndrome" EXACT [Orphanet:2678]
synonym: "neurofibromatosis type 6" EXACT [GARD:0003967]
synonym: "NF6" EXACT [GARD:0003967, Orphanet:2678]
xref: GARD:0001050 {source="MONDO:equivalentTo"}
xref: GARD:0003967 {source="MONDO:equivalentTo"}
xref: ICD10:L81.3 {source="Orphanet:2678", source="ORDO:2678/e", source="ORDO:2678/specific"}
xref: MESH:C537421 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="ORDO:2678/e", source="GARD:0003967", source="GARD:0001050"}
xref: Orphanet:2678 {source="OMIM:114030", source="MONDO:equivalentTo", source="GARD:0003967"}
xref: UMLS:C1861975 {source="OMIM:114030", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2678", source="ORDO:2678/e", source="GARD:0001050"}
xref: UMLS:CN035858 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019289 {source="Orphanet:2678"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C537421
property_value: exactMatch http://identifiers.org/omim/114030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035858
property_value: exactMatch Orphanet:2678
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots xsd:anyURI {source="GARD:0003967"}

[Term]
id: MONDO:0007246
name: calcific aortic disease with immunologic abnormalities, familial
synonym: "calcific aortic disease with immunologic abnormalities, familial" EXACT [OMIM:114065]
xref: MESH:C566182 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114065 {source="MONDO:equivalentTo"}
xref: UMLS:C1861974 {source="OMIM:114065", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566182
property_value: exactMatch http://identifiers.org/omim/114065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861974

[Term]
id: MONDO:0007247
name: basal ganglia calcification, idiopathic, childhood-onset
comment: Not in the OMIM series. {source="OMIM:114100"}
subset: gard_rare {source="GARD:0009598"}
synonym: "basal ganglia calcification, idiopathic, childhood-onset" EXACT [OMIM:114100]
synonym: "bilateral striopallidodentate calcinosis childhood-onset" RELATED [GARD:0009598]
synonym: "cerebral calcification nonarteriosclerotic idiopathic childhood-onset" RELATED [GARD:0009598]
synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset" RELATED [OMIM:114100]
synonym: "IBGC childhood onset" RELATED [GARD:0009598]
synonym: "IBGC, childhood-onset" RELATED [OMIM:114100]
synonym: "idiopathic basal ganglia calcification childhood-onset" RELATED [GARD:0009598]
synonym: "striopallidodentate calcinosis, bilateral, childhood-onset" RELATED [OMIM:114100]
xref: GARD:0009598 {source="MONDO:equivalentTo"}
xref: MESH:C536276 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114100 {source="MONDO:equivalentTo"}
xref: UMLS:C1861967 {source="NCBI:mim2gene_medline", source="OMIM:114100", source="MONDO:equivalentTo"}
is_a: MONDO:0008947 ! bilateral striopallidodentate calcinosis
is_a: MONDO:0018866 {source="ORDO:51/btnt"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/mesh/C536276
property_value: exactMatch http://identifiers.org/omim/114100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861967
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset xsd:anyURI {source="GARD:0009598"}

[Term]
id: MONDO:0007248
name: hereditary painful callosities
def: "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." [Orphanet:79141]
subset: ordo_disease {source="Orphanet:79141"}
synonym: "callosities, hereditary painful" RELATED [OMIM:114140]
synonym: "callosities, painful plantar" RELATED [OMIM:114140]
synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141]
synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141]
synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141]
synonym: "PPK nummularis" EXACT [Orphanet:79141]
xref: ICD10:Q82.8 {source="ORDO:79141/attributed", source="ORDO:79141/ntbt", source="Orphanet:79141"}
xref: MESH:C566180 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114140 {source="ORDO:79141/e", source="MONDO:equivalentTo", source="Orphanet:79141"}
xref: Orphanet:79141 {source="OMIM:114140", source="MONDO:equivalentTo"}
xref: UMLS:C1861964 {source="OMIM:114140", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79141", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017673 {source="Orphanet:79141"} ! isolated focal palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/mesh/C566180
property_value: exactMatch http://identifiers.org/omim/114140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861964
property_value: exactMatch Orphanet:79141

[Term]
id: MONDO:0007249
name: camptobrachydactyly
def: "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." [Orphanet:1319]
subset: gard_rare {source="GARD:0001062"}
subset: ordo_malformation_syndrome {source="Orphanet:1319"}
synonym: "camptobrachydactyly" EXACT [OMIM:114150]
synonym: "short foot/brachydactyly of toes, camptodactyly , brachydactyly" RELATED [GARD:0001062]
xref: GARD:0001062 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="ORDO:1319/attributed", source="ORDO:1319/ntbt", source="Orphanet:1319"}
xref: MESH:C537967 {source="MONDO:equivalentTo", source="ORDO:1319/e", source="MONDO:ontobio", source="Orphanet:1319"}
xref: OMIM:114150 {source="MONDO:equivalentTo", source="ORDO:1319/e", source="Orphanet:1319"}
xref: Orphanet:1319 {source="MONDO:equivalentTo", source="OMIM:114150"}
xref: SCTID:733045005 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:1319", source="Orphanet:1319/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C537967
property_value: exactMatch http://identifiers.org/omim/114150
property_value: exactMatch http://identifiers.org/snomedct/733045005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861963
property_value: exactMatch Orphanet:1319
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly xsd:anyURI {source="GARD:0001062"}

[Term]
id: MONDO:0007250
name: camptodactyly of fingers
def: "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." [Orphanet:295016]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:295016"}
synonym: "CAMPD1" RELATED [MONDO:Lexical, OMIM:114200]
synonym: "camptodactyly 1" RELATED [MONDO:Lexical, OMIM:114200]
synonym: "camptodactyly 1; CAMPD1" RELATED [OMIM:114200]
synonym: "camptodactyly and knuckle pads" RELATED [OMIM:114200]
synonym: "crooked little finger, familial" RELATED [GARD:0009448, MESH:C536852]
synonym: "familial streblodactyly" RELATED [GARD:0009448]
synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852]
synonym: "streblodactyly" RELATED [OMIM:114200]
xref: GARD:0009448 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.1 {source="ORDO:295016/attributed", source="ORDO:295016/ntbt", source="Orphanet:295016"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536852 {source="MONDO:equivalentTo"}
xref: MESH:C567780 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114200 {source="GARD:0009448", source="MONDO:equivalentTo", source="Orphanet:295016", source="ORDO:295016/e"}
xref: Orphanet:295016 {source="OMIM:114200", source="MONDO:equivalentTo"}
xref: SCTID:29271008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.79"}
is_a: MONDO:0017428 {source="Orphanet:295016"} ! congenital deformities of fingers
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306668
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751430
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931353
property_value: exactMatch http://identifiers.org/mesh/C536852
property_value: exactMatch http://identifiers.org/mesh/C567780
property_value: exactMatch http://identifiers.org/omim/114200
property_value: exactMatch http://identifiers.org/snomedct/29271008
property_value: exactMatch Orphanet:295016
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly xsd:anyURI {source="GARD:0009448"}

[Term]
id: MONDO:0007251
name: campomelic dysplasia
def: "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." [Orphanet:140]
comment: Editor note: consider adding grouping class for related disorders
subset: ordo_malformation_syndrome {source="Orphanet:140"}
synonym: "acampomelic campomelic dysplasia" EXACT [DOID:0050463, OMIM:114290]
synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290]
synonym: "campomelic dwarfism" EXACT [Orphanet:140]
synonym: "campomelic dysplasia" EXACT [OMIM:114290]
synonym: "campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290]
synonym: "camptomelic dysplasia" RELATED [OMIM:114290]
synonym: "CMD" EXACT [NCIT:C84609]
synonym: "Cmd1" RELATED [OMIM:114290]
synonym: "Cmpd" RELATED [OMIM:114290]
synonym: "CMPD1" RELATED [GARD:0010027]
synonym: "Cmpd1/Sra1" RELATED [OMIM:114290]
xref: DOID:0050463 {source="MONDO:equivalentTo"}
xref: GARD:0010027 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:140/attributed", source="ORDO:140/ntbt", source="Orphanet:140"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="ORDO:140/e", source="Orphanet:140"}
xref: NCIT:C84609 {source="DOID:0050463", source="MONDO:equivalentTo"}
xref: OMIM:114290 {source="DOID:0050463", source="MONDO:equivalentTo", source="ORDO:140/e", source="Orphanet:140"}
xref: Orphanet:140 {source="MONDO:equivalentTo", source="OMIM:114290"}
xref: SCTID:74928006 {source="DOID:0050463", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.66"}
xref: UMLS:C1861922 {source="DOID:0050463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:140/e", source="NCIT:C84609", source="Orphanet:140", source="OMIM:114290"}
xref: UMLS:C1861923 {source="DOID:0050463", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:114290"}
is_a: MONDO:0005516 {source="DOID:0050463"} ! osteochondrodysplasia
is_a: MONDO:0017978 {source="Orphanet:140"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0019698 {source="Orphanet:140"} ! bent bone dysplasia
is_a: MONDO:0020042 {source="Orphanet:140"} ! syndrome with 46,XY disorder of sex development
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:140"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842462
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549544
property_value: closeMatch NCIT:C120205
property_value: exactMatch DOID:0050463
property_value: exactMatch http://identifiers.org/mesh/D055036
property_value: exactMatch http://identifiers.org/omim/114290
property_value: exactMatch http://identifiers.org/snomedct/74928006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861923
property_value: exactMatch NCIT:C84609
property_value: exactMatch Orphanet:140

[Term]
id: MONDO:0007252
name: Gordon syndrome
def: "Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." [Orphanet:376]
subset: gard_rare {source="GARD:0002553"}
subset: ordo_malformation_syndrome {source="Orphanet:376"}
synonym: "arthrogryposis distal type 3" RELATED [GARD:0002553]
synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [OMIM:114300]
synonym: "arthrogryposis, distal, type 3" RELATED [MONDO:Lexical, OMIM:114300]
synonym: "arthrogryposis, distal, type 3; DA3" RELATED [OMIM:114300]
synonym: "camptodactyly, cleft palate, and clubfoot" RELATED [OMIM:114300]
synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [Orphanet:376]
synonym: "DA3" RELATED [MONDO:Lexical, OMIM:114300]
synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376]
synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376]
synonym: "Gordon syndrome" EXACT [OMIM:114300]
xref: GARD:0002553 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="ORDO:376/attributed", source="ORDO:376/ntbt", source="Orphanet:376"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537288 {source="MONDO:equivalentTo", source="ORDO:376/e", source="MONDO:ontobio", source="Orphanet:376"}
xref: OMIM:114300 {source="MONDO:equivalentTo", source="ORDO:376/e", source="Orphanet:376"}
xref: Orphanet:376 {source="MONDO:equivalentTo", source="OMIM:114300"}
xref: SCTID:237850008 {source="MONDO:kboom-pr-0.99/0.73/5.19", source="MONDO:equivalentTo"}
xref: UMLS:C0220666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114300", source="Orphanet:376"}
is_a: MONDO:0015335 {source="Orphanet:376"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019942 {source="DC-OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:376"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537288
property_value: exactMatch http://identifiers.org/omim/114300
property_value: exactMatch http://identifiers.org/snomedct/237850008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220666
property_value: exactMatch Orphanet:376
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome xsd:anyURI {source="GARD:0002553"}

[Term]
id: MONDO:0007253
name: cancer, familial, with in vitro Radioresistance
synonym: "cancer, familial, with in vitro RADIORESISTANCE" RELATED [OMIM:114450]
xref: MESH:C566179 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114450 {source="MONDO:equivalentTo"}
xref: UMLS:C1861915 {source="OMIM:114450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566179/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566179
property_value: exactMatch http://identifiers.org/omim/114450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861915

[Term]
id: MONDO:0007254
name: breast cancer
def: "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." [NCIT:C9335]
synonym: "breast cancer" EXACT [MONDO:patterns/location]
synonym: "breast tumor" BROAD [DOID:1612, NCIT:C2910]
synonym: "cancer of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant breast neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9335]
synonym: "malignant breast tumor" EXACT [NCIT:C9335]
synonym: "malignant neoplasm of breast" EXACT [DOID:1612, MONDO:patterns/cancer, NCIT:C9335]
synonym: "malignant neoplasm of the breast" EXACT [NCIT:C9335]
synonym: "malignant tumor of breast" EXACT [NCIT:C9335]
synonym: "malignant tumor of the breast" EXACT [DOID:1612, NCIT:C9335]
synonym: "mammary cancer" EXACT [DOID:1612]
synonym: "mammary neoplasm" RELATED [DOID:1612]
synonym: "mammary tumor" BROAD [CSP2005:2016-0671, DOID:1612]
synonym: "primary breast cancer" NARROW [DOID:1612]
xref: DOID:1612 {source="MONDO:equivalentTo"}
xref: ICD10:C50 {source="MONDO:equivalentTo", source="DOID:1612"}
xref: ICD10:C50-C50 {source="DOID:1612"}
xref: ICD9:174.8 {source="DOID:1612"}
xref: NCIT:C9335 {source="MONDO:equivalentTo", source="DOID:1612"}
xref: SCTID:254837009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.66", source="DOID:1612"}
is_a: MONDO:0003274 {source="DOID:1612", source="MONDO:Redundant", source="linkedlifedata"} ! thoracic cancer
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C9335", source="OWLReasoner:2017", source="linkedlifedata"} ! breast neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154521006
property_value: closeMatch http://identifiers.org/snomedct/190121004
property_value: closeMatch http://identifiers.org/snomedct/269595005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006142
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153555
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1458155
property_value: exactMatch DOID:1612
property_value: exactMatch http://identifiers.org/snomedct/254837009
property_value: exactMatch NCIT:C9335

[Term]
id: MONDO:0007255
name: obsolete colorectal cancer
is_obsolete: true
replaced_by: MONDO:0005575

[Term]
id: MONDO:0007256
name: hepatocellular carcinoma
def: "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." [NCIT:C3099]
subset: ordo_disease {source="Orphanet:88673"}
synonym: "adult hepatoma" NARROW [DOID:684, NCIT:C7956]
synonym: "adult primary hepatocellular carcinoma" NARROW [DOID:684]
synonym: "cancer, hepatocellular" EXACT [OMIM:114550]
synonym: "carcinoma of liver" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of liver cells" EXACT [NCIT:C3099]
synonym: "carcinoma of the liver cells" EXACT [NCIT:C3099]
synonym: "carcinoma, hepatocellular, malignant" EXACT [NCIT:C3099]
synonym: "HCC" EXACT [DOID:684, NCIT:C3099, OMIM:114550, Orphanet:88673]
synonym: "hepatoblastoma" RELATED [OMIM:114550]
synonym: "hepatoblastoma caused by somatic mutation" RELATED [OMIM:114550]
synonym: "hepatocellular adenocarcinoma" EXACT [MONDO:design_patterns]
synonym: "hepatocellular cancer" EXACT [NCIT:C3099]
synonym: "hepatocellular carcinoma" EXACT [NCIT:C3099, OMIM:114550]
synonym: "hepatoma" EXACT [DOID:684, MONDO:cjm, NCIT:C3099, OMIM:114550]
synonym: "liver and intrahepatic bile duct carcinoma" EXACT [DOID:686, NCIT:C7927]
synonym: "liver cancer" RELATED [OMIM:114550]
synonym: "liver carcinoma" EXACT [MONDO:0004018, MONDO:patterns/location]
synonym: "liver cell cancer (hepatocellular carcinoma)" EXACT [NCIT:C3099]
synonym: "liver cell carcinoma" EXACT [NCIT:C3099, OMIM:114550]
synonym: "primary carcinoma of liver cells" EXACT [NCIT:C3099]
synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099]
xref: COHD:4001171 {source="MONDO:equivalentTo"}
xref: DOID:684 {source="MONDO:equivalentTo", source="EFO:0000182"}
xref: DOID:686 {source="MONDO:equivalentTo"}
xref: EFO:0000182 {source="MONDO:equivalentTo", source="DOID:684"}
xref: ICD10:C22.0 {source="ORDO:88673/e", source="Orphanet:88673"}
xref: ICDO:8170/3 {source="NCIT:C3099"}
xref: MedDRA:10049010 {source="ORDO:88673/e", source="Orphanet:88673"}
xref: MESH:D006528 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="EFO:0000182", source="Orphanet:88673"}
xref: NCIT:C3099 {source="MONDO:equivalentTo", source="EFO:0000182"}
xref: OMIM:114550 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"}
xref: ONCOTREE:HCC {source="MONDO:equivalentTo"}
xref: Orphanet:88673 {source="OMIM:114550", source="MONDO:equivalentTo"}
is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract
property_value: closeMatch http://identifiers.org/mesh/D008113
property_value: closeMatch http://identifiers.org/snomedct/25370001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019204
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2239176
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676033
property_value: closeMatch NCIT:C7711
property_value: exactMatch DOID:684
property_value: exactMatch DOID:686
property_value: exactMatch http://identifiers.org/meddra/10049010
property_value: exactMatch http://identifiers.org/mesh/D006528
property_value: exactMatch http://identifiers.org/omim/114550
property_value: exactMatch NCIT:C3099
property_value: exactMatch Orphanet:88673

[Term]
id: MONDO:0007257
name: CANDF1
synonym: "CANDF1" EXACT [MONDO:Lexical, OMIM:114580]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease" RELATED [OMIM:114580]
synonym: "candidiasis, familial, 1" RELATED [MONDO:Lexical, OMIM:114580]
synonym: "candidiasis, familial, 1; CANDF1" RELATED [OMIM:114580]
synonym: "Cmct" RELATED [OMIM:114580]
xref: MESH:C567779 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114580 {source="MONDO:equivalentTo"}
xref: UMLS:C2751429 {source="OMIM:114580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 {source="MONDOLEX:0007257", source="OMIM:114580"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/mesh/C567779
property_value: exactMatch http://identifiers.org/omim/114580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751429

[Term]
id: MONDO:0007258
name: canine teeth, absence of upper permanent
synonym: "canine teeth, absence of upper permanent" EXACT [OMIM:114600]
xref: OMIM:114600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/omim/114600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861899

[Term]
id: MONDO:0007259
name: craniofaciofrontodigital syndrome
def: "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." [Orphanet:363705]
subset: ordo_disease {source="Orphanet:363705"}
synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705]
synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620]
xref: ICD10:Q87.0 {source="ORDO:363705/attributed", source="ORDO:363705/ntbt", source="Orphanet:363705"}
xref: MESH:C567298 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114620 {source="MONDO:equivalentTo", source="ORDO:363705/e", source="Orphanet:363705"}
xref: Orphanet:363705 {source="MONDO:equivalentTo", source="OMIM:114620"}
xref: SCTID:763320005 {source="MONDO:equivalentTo"}
xref: UMLS:C2676032 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114620", source="MEDGEN:kboom-pr92-c96", source="Orphanet:363705"}
is_a: MONDO:0015159 {source="Orphanet:363705"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016175 {source="Orphanet:363705"} ! cutis laxa
is_a: MONDO:0019710 {source="Orphanet:363705"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C567298
property_value: exactMatch http://identifiers.org/omim/114620
property_value: exactMatch http://identifiers.org/snomedct/763320005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676032
property_value: exactMatch Orphanet:363705

[Term]
id: MONDO:0007260
name: Car factor deficiency
subset: n_of_one
synonym: "Car factor deficiency" EXACT [OMIM:114650]
xref: MESH:C566176 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114650 {source="MONDO:equivalentTo"}
xref: UMLS:C1861898 {source="NCBI:mim2gene_medline", source="OMIM:114650", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566176
property_value: exactMatch http://identifiers.org/omim/114650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861898

[Term]
id: MONDO:0007261
name: Carabelli anomaly of maxillary molar teeth
synonym: "Carabelli anomaly of maxillary molar teeth" EXACT [OMIM:114700]
xref: MESH:C566175 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:114700 {source="MONDO:equivalentTo"}
xref: UMLS:C1861897 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566175
property_value: exactMatch http://identifiers.org/omim/114700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861897

[Term]
id: MONDO:0007262
name: obsolete carcinoid syndrome
is_obsolete: true
replaced_by: MONDO:0006689

[Term]
id: MONDO:0007263
name: cardiac rhythm disease
def: "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." [NCIT:P378]
synonym: "arrhythmia" EXACT [NCIT:C2881]
xref: EFO:0004269 {source="MONDO:equivalentTo"}
xref: ICD9:427.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2881 {source="EFO:0004269", source="MONDO:kboom-pr-1.00/0.78/7.76", source="MONDO:equivalentTo"}
xref: SCTID:698247007 {source="EFO:0004269", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
property_value: closeMatch http://identifiers.org/mesh/D001145
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340464
property_value: exactMatch http://identifiers.org/snomedct/698247007
property_value: exactMatch NCIT:C2881

[Term]
id: MONDO:0007264
name: sudden cardiac arrest
def: "An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." [NCIT:P378]
comment: Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. {source="EFO:0004278"}
synonym: "cardiac conduction defect" RELATED [OMIM:115080]
synonym: "cardiac conduction Disorder" EXACT [NCIT:C78245]
synonym: "conduction disorder" EXACT [NCIT:C78245]
synonym: "disorder of cardiac conduction" EXACT [NCIT:C78245]
synonym: "familial sudden death" RELATED [OMIM:115080]
synonym: "heart conduction disorder" EXACT [NCIT:C78245]
synonym: "sudden cardiac death" RELATED [OMIM:115080]
xref: EFO:0004278 {source="MONDO:equivalentTo"}
xref: NCIT:C78245 {source="MONDO:equivalentTo"}
xref: OMIM:115080 {source="EFO:0004278", source="MONDO:equivalentTo"}
xref: SCTID:95281009 {source="MONDO:kboom-pr-1.00/0.79/7.96", source="EFO:0004278", source="MONDO:equivalentTo"}
is_a: MONDO:0007263 {source="EFO:0004278"} ! cardiac rhythm disease
property_value: closeMatch http://identifiers.org/mesh/D016757
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085298
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264886
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861884
property_value: exactMatch http://identifiers.org/omim/115080
property_value: exactMatch http://identifiers.org/snomedct/95281009
property_value: exactMatch NCIT:C50911
property_value: exactMatch NCIT:C78245

[Term]
id: MONDO:0007265
name: cardiofaciocutaneous syndrome 1
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRAF cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiofaciocutaneous syndrome 1" EXACT [MONDO:Lexical, OMIM:115150]
synonym: "cardiofaciocutaneous syndrome 1; CFC1" RELATED [OMIM:115150]
synonym: "cardiofaciocutaneous syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 1" EXACT [MONDORULE:1, OMIM:115150]
synonym: "CFC syndrome" RELATED [OMIM:115150]
synonym: "CFC1" RELATED [MONDO:Lexical, OMIM:115150]
synonym: "Cfcs" RELATED [OMIM:115150]
xref: OMIM:115150 {source="MONDO:equivalentTo"}
xref: UMLS:CN029449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015280 {source="DC-OMIM:115150", source="MONDO:Redundant", source="OMIM:115150"} ! cardiofaciocutaneous syndrome
property_value: exactMatch http://identifiers.org/omim/115150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029449

[Term]
id: MONDO:0007266
name: hypertrophic cardiomyopathy 2
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 2" EXACT [DOID:0110308]
synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical, OMIM:115195]
synonym: "cardiomyopathy, familial hypertrophic, 2; CMH2" RELATED [OMIM:115195]
synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1, OMIM:115195]
synonym: "CMH2" EXACT [DOID:0110308, MONDO:Lexical, OMIM:115195]
synonym: "familial hypertrophic cardiomyopathy type 2" EXACT [NCIT:C142892]
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 2" EXACT [DOID:0110308, MONDORULE:1]
synonym: "TNNT2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110308 {source="MONDO:equivalentTo"}
xref: MESH:C566171 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142892 {source="MONDO:equivalentTo"}
xref: OMIM:115195 {source="MONDO:equivalentTo", source="DOID:0110308"}
xref: UMLS:C1861864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:115195"}
is_a: MONDO:0024573 {source="MESH:C566171", source="MONDOLEX:0007266", source="NCIT:C142892", source="OMIM", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110308
property_value: exactMatch http://identifiers.org/mesh/C566171
property_value: exactMatch http://identifiers.org/omim/115195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861864
property_value: exactMatch NCIT:C142892

[Term]
id: MONDO:0007267
name: hypertrophic cardiomyopathy 3
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 3" EXACT [DOID:0110309]
synonym: "cardiomyopathy, familial hypertrophic, 3" RELATED [MONDO:Lexical, OMIM:115196]
synonym: "cardiomyopathy, familial hypertrophic, 3; CMH3" RELATED [OMIM:115196]
synonym: "cardiomyopathy, familial hypertrophic, type 3" EXACT [MONDORULE:1, OMIM:115196]
synonym: "CMH3" EXACT [DOID:0110309, MONDO:Lexical, OMIM:115196]
synonym: "hypertrophic cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 3" EXACT [DOID:0110309, MONDORULE:1]
synonym: "TPM1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110309 {source="MONDO:equivalentTo"}
xref: MESH:C566170 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115196 {source="DOID:0110309", source="MONDO:equivalentTo"}
xref: UMLS:C1861863 {source="OMIM:115196", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C566170", source="MONDOLEX:0007267", source="OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110309
property_value: exactMatch http://identifiers.org/mesh/C566170
property_value: exactMatch http://identifiers.org/omim/115196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861863

[Term]
id: MONDO:0007268
name: hypertrophic cardiomyopathy 4
def: "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." [NCIT:C133725]
synonym: "cardiomyopathy, familial hypertrophic, 4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197]
synonym: "cardiomyopathy, familial hypertrophic, 4, susceptibility to" RELATED [OMIM:115197]
synonym: "cardiomyopathy, familial hypertrophic, 4; CMH4" RELATED [OMIM:115197]
synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1, OMIM:115197]
synonym: "CMH4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197]
synonym: "familial hypertrophic cardiomyopathy type 4" EXACT [NCIT:C133725]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYBPC3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 4" EXACT [DOID:0110310, MONDORULE:1]
synonym: "MYBPC3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110310 {source="MONDO:equivalentTo"}
xref: MESH:C566169 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C133725 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:115197 {source="MONDO:equivalentTo", source="DOID:0110310"}
xref: UMLS:C1861862 {source="OMIM:115197", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C566169", source="MONDOLEX:0007268", source="NCIT:C133725", source="OMIM", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751427
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110310
property_value: exactMatch http://identifiers.org/mesh/C566169
property_value: exactMatch http://identifiers.org/omim/115197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861862
property_value: exactMatch NCIT:C133725

[Term]
id: MONDO:0007269
name: dilated cardiomyopathy 1A
def: "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." [Orphanet:300751]
subset: ordo_disease {source="Orphanet:300751"}
synonym: "cardiomyopathy, congestive" RELATED [OMIM:115200]
synonym: "cardiomyopathy, dilated, 1A" RELATED [MONDO:Lexical, OMIM:115200]
synonym: "cardiomyopathy, dilated, 1A; CMD1A" RELATED [OMIM:115200]
synonym: "cardiomyopathy, dilated, type 1A" EXACT [MONDORULE:4, OMIM:115200]
synonym: "cardiomyopathy, dilated, with conduction defect 1" RELATED [OMIM:115200]
synonym: "cardiomyopathy, familial idiopathic" RELATED [OMIM:115200]
synonym: "cardiomyopathy, idiopathic dilated" RELATED [OMIM:115200]
synonym: "CDCD1" EXACT [DOID:0110425]
synonym: "CMD1A" EXACT EXCLUDE [DOID:0110425]
synonym: "CMD1A" RELATED [MONDO:Lexical, OMIM:115200]
synonym: "dilated cardiomyopathy type 1A" EXACT [DOID:0110425, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [DOID:0110425]
synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110425 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="Orphanet:300751", source="ORDO:300751/attributed", source="ORDO:300751/ntbt"}
xref: OMIM:115200 {source="ORDO:300751/e", source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo"}
xref: Orphanet:300751 {source="DOID:0110425", source="OMIM:115200", source="MONDO:equivalentTo"}
xref: SCTID:766883006 {source="MONDO:equivalentTo"}
xref: UMLS:C1449563 {source="NCBI:mim2gene_medline", source="OMIM:115200", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110425
property_value: exactMatch http://identifiers.org/omim/115200
property_value: exactMatch http://identifiers.org/snomedct/766883006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449563
property_value: exactMatch Orphanet:300751

[Term]
id: MONDO:0007270
name: cardiomyopathy, familial restrictive, 1
def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial restrictive, 1" EXACT [MONDO:Lexical, OMIM:115210]
synonym: "cardiomyopathy, familial restrictive, 1; RCM1" RELATED [OMIM:115210]
synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1, OMIM:115210]
synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern]
synonym: "Rcm" RELATED [OMIM:115210]
synonym: "RCM1" RELATED [MONDO:Lexical, OMIM:115210]
synonym: "TNNI3 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566168 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115210 {source="MONDO:equivalentTo"}
xref: UMLS:C1861861 {source="OMIM:115210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019150 {source="MONDO:Redundant", source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C566168
property_value: exactMatch http://identifiers.org/omim/115210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861861

[Term]
id: MONDO:0007271
name: familial cutaneous collagenoma
def: "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." [Orphanet:53296]
subset: gard_rare {source="GARD:0009799"}
subset: ordo_disease {source="Orphanet:53296"}
synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250]
xref: GARD:0009799 {source="MONDO:equivalentTo"}
xref: ICD10:L94.8 {source="ORDO:53296/attributed", source="ORDO:53296/ntbt", source="Orphanet:53296"}
xref: MESH:C562925 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115250 {source="MONDO:equivalentTo", source="ORDO:53296/e", source="Orphanet:53296"}
xref: Orphanet:53296 {source="MONDO:equivalentTo", source="OMIM:115250"}
xref: SCTID:239139000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0406817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:53296/e", source="Orphanet:53296", source="OMIM:115250"}
is_a: MONDO:0019292 {source="Orphanet:53296", source="Orphanet:53296/inferred"} ! dermis elastic tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C562925
property_value: exactMatch http://identifiers.org/omim/115250
property_value: exactMatch http://identifiers.org/snomedct/239139000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406817
property_value: exactMatch Orphanet:53296
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma xsd:anyURI {source="GARD:0009799"}

[Term]
id: MONDO:0007272
name: hereditary hypercarotenemia and vitamin A deficiency
def: "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." [Orphanet:199285]
subset: ordo_disease {source="Orphanet:199285"}
synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300]
synonym: "HCVAD" RELATED [OMIM:115300]
synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300]
synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant; HCVAD" RELATED [OMIM:115300]
xref: ICD10:E50.8 {source="Orphanet:199285", source="ORDO:199285/attributed", source="ORDO:199285/ntbt"}
xref: MESH:C567296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="ORDO:199285/e"}
xref: Orphanet:199285 {source="OMIM:115300", source="MONDO:equivalentTo"}
xref: SCTID:726079008 {source="MONDO:equivalentTo"}
is_a: MONDO:0017760 {source="Orphanet:199285"} ! disorder of other vitamins and cofactors metabolism and transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676023
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676024
property_value: exactMatch http://identifiers.org/mesh/C567296
property_value: exactMatch http://identifiers.org/omim/115300
property_value: exactMatch http://identifiers.org/snomedct/726079008
property_value: exactMatch Orphanet:199285

[Term]
id: MONDO:0007273
name: paragangliomas 4
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010546"}
synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310]
synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern]
synonym: "paraganglioma, familial malignant" RELATED [OMIM:115310]
synonym: "paragangliomas 4" EXACT [MONDO:Lexical, OMIM:115310]
synonym: "paragangliomas 4; PGL4" RELATED [OMIM:115310]
synonym: "paragangliomas type 4" EXACT [MONDORULE:1, OMIM:115310]
synonym: "paragangliomas, hereditary extraadrenal" RELATED [OMIM:115310]
synonym: "PGL4" RELATED [MONDO:Lexical, OMIM:115310]
synonym: "pheochromocytoma, extraadrenal and cervical paraganglioma" RELATED [GARD:0010546]
synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [OMIM:115310]
synonym: "pheochromocytoma, familial extraadrenal" RELATED [OMIM:115310]
synonym: "SDHB paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome" RELATED [GARD:0010546]
xref: GARD:0010546 {source="MONDO:equivalentTo"}
xref: OMIM:115310 {source="MONDO:equivalentTo"}
xref: UMLS:C1861848 {source="NCBI:mim2gene_medline", source="OMIM:115310", source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="DC-OMIM:115310", source="MONDO:Redundant", source="OMIM:115310"} ! paraganglioma
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002367 ! kidney cancer
is_a: MONDO:0002817 ! adrenal gland cancer
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021089 ! peripheral nervous system cancer
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/115310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861848
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4 xsd:anyURI {source="GARD:0010546"}

[Term]
id: MONDO:0007274
name: carpal displacement
synonym: "carpal bossing" RELATED [OMIM:115400]
synonym: "carpal displacement" EXACT [OMIM:115400]
xref: OMIM:115400 {source="MONDO:equivalentTo"}
xref: UMLS:C1861847 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:115400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/115400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861847

[Term]
id: MONDO:0007275
name: carpal tunnel syndrome
def: "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." [NCIT:P378]
synonym: "amyotrophy, thenar, of carpal origin" RELATED [OMIM:115430]
synonym: "carpal tunnel median neuropathy" EXACT [CSP2005:2042-6577, DOID:12169]
synonym: "carpal tunnel syndrome" EXACT [DOID:12169, ICD9CM_2006:354.0, MONDO:Lexical, OMIM:115430]
synonym: "CTS" RELATED [OMIM:115430]
synonym: "CTS - carpal tunnel syndrome" EXACT [DOID:12169]
synonym: "median nerve entrapment" EXACT [DOID:12169, MTHICD9_2006:354.0]
xref: COHD:380094 {source="MONDO:equivalentTo"}
xref: DOID:12169 {source="MONDO:equivalentTo", source="EFO:0004143"}
xref: EFO:0004143 {source="MONDO:equivalentTo"}
xref: ICD10:G56.0 {source="MONDO:equivalentTo", source="DOID:12169"}
xref: ICD10:G56.00 {source="DOID:12169"}
xref: ICD9:354.0 {source="MONDO:equivalentTo", source="i2s", source="EFO:0004143", source="DOID:12169"}
xref: MESH:D002349 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0004143", source="DOID:12169"}
xref: NCIT:C34450 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0004143", source="DOID:12169"}
xref: SCTID:57406009 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0007286 {source="OMIM:115430", source="NCBI:mim2gene_medline", source="NCIT:C34450", source="MONDO:equivalentTo", source="DOID:12169"}
is_a: MONDO:0003615 {source="DOID:12169", source="MESH:D002349", source="linkedlifedata", source="linkedlifedata/inferred"} ! nerve compression syndrome
relationship: excluded_subClassOf MONDO:0002254 {source="MONDOLEX:0007275", source="NCIT:C34450"} ! syndromic disease
property_value: closeMatch http://identifiers.org/snomedct/155073007
property_value: closeMatch http://identifiers.org/snomedct/193126005
property_value: closeMatch http://identifiers.org/snomedct/246611002
property_value: exactMatch DOID:12169
property_value: exactMatch http://identifiers.org/mesh/D002349
property_value: exactMatch http://identifiers.org/snomedct/57406009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007286
property_value: exactMatch NCIT:C34450

[Term]
id: MONDO:0007276
name: cat-eye syndrome
def: "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." [Orphanet:195]
subset: gard_rare {source="GARD:0000026"}
subset: ordo_malformation_syndrome {source="Orphanet:195"}
synonym: "CAT eye syndrome" RELATED [MONDO:Lexical, OMIM:115470]
synonym: "CAT eye syndrome; CES" RELATED [OMIM:115470]
synonym: "CES" EXACT [MONDO:Lexical, OMIM:115470, Orphanet:195]
synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470]
synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470]
synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470]
xref: GARD:0000026 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.8 {source="ORDO:195/attributed", source="ORDO:195/ntbt", source="Orphanet:195"}
xref: MESH:C535918 {source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195", source="MONDO:ontobio"}
xref: NCIT:C75477 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:115470 {source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195"}
xref: Orphanet:195 {source="MONDO:equivalentTo", source="OMIM:115470"}
xref: SCTID:26445008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C0265493 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195", source="NCIT:C75477", source="OMIM:115470"}
is_a: MONDO:0015218 {source="Orphanet:195"} ! syndromic developmental defect of the eye
is_a: MONDO:0015246 {source="Orphanet:195"} ! syndromic anorectal malformation
is_a: MONDO:0016998 {source="Orphanet:195"} ! complex chromosomal rearrangement
is_a: MONDO:0019721 {source="Orphanet:195"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020253 {source="Orphanet:195"} ! syndrome with a symptomatic strabismus
property_value: exactMatch http://identifiers.org/mesh/C535918
property_value: exactMatch http://identifiers.org/omim/115470
property_value: exactMatch http://identifiers.org/snomedct/26445008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265493
property_value: exactMatch NCIT:C75477
property_value: exactMatch Orphanet:195
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome xsd:anyURI {source="GARD:0000026"}

[Term]
id: MONDO:0007277
name: cataract-aberrant oral frenula-growth delay syndrome
def: "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." [Orphanet:1373]
subset: ordo_malformation_syndrome {source="Orphanet:1373"}
synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [OMIM:115645]
synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GARD:0005554]
synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554]
synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373]
xref: GARD:0005554 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1373", source="ORDO:1373/attributed", source="ORDO:1373/ntbt"}
xref: MESH:C536691 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="ORDO:1373/e"}
xref: Orphanet:1373 {source="MONDO:equivalentTo", source="OMIM:115645"}
xref: SCTID:715988005 {source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:1373"} ! syndromic developmental defect of the eye
is_a: MONDO:0020225 {source="Orphanet:1373"} ! syndromic cataract
is_a: MONDO:0043008 {source="Orphanet:1373"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861835
property_value: exactMatch http://identifiers.org/mesh/C536691
property_value: exactMatch http://identifiers.org/omim/115645
property_value: exactMatch http://identifiers.org/snomedct/715988005
property_value: exactMatch Orphanet:1373

[Term]
id: MONDO:0007278
name: cataract 32 multiple types
def: "A cataract that has_material_basis_in mutation in the region 14q22-q23." [DOID:0110227, PMID:6694185]
comment: Links to OMIM series but not listed. {source="OMIM:115650"}
synonym: "anterior polar cataract 1" NARROW [DOID:0110227]
synonym: "cataract 32, multiple types" RELATED [MONDO:Lexical, OMIM:115650]
synonym: "cataract 32, multiple types; CTRCT32" RELATED [OMIM:115650]
synonym: "cataract, anterior polar" RELATED [OMIM:115650]
synonym: "cataract, anterior polar, 1" RELATED [OMIM:115650]
synonym: "cataract, posterior polar, 5" RELATED [OMIM:115650]
synonym: "CTAA1" NARROW [DOID:0110227]
synonym: "CTPP5" NARROW [DOID:0110227]
synonym: "CTRCT32" EXACT [DOID:0110227, MONDO:Lexical, OMIM:115650]
synonym: "posterior polar cataract 5" NARROW [DOID:0110227]
xref: DOID:0110227 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110227"}
xref: OMIM:115650 {source="DOID:0110227", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1413785
property_value: exactMatch DOID:0110227
property_value: exactMatch http://identifiers.org/omim/115650

[Term]
id: MONDO:0007279
name: cataract 7
def: "A cataract that has_material_basis_in variation in the region 17q24." [DOID:0110260, PMID:7704021]
synonym: "cataract 7" EXACT [MONDO:Lexical, OMIM:115660]
synonym: "cataract 7, cerulean type" RELATED [OMIM:115660]
synonym: "cataract 7; CTRCT7" RELATED [OMIM:115660]
synonym: "cataract type 7" EXACT [DOID:0110260, MONDORULE:1]
synonym: "cataract, congenital, cerulean type, 1" RELATED [OMIM:115660]
synonym: "CCA1" NARROW [DOID:0110260]
synonym: "cerulean type cataract 7" NARROW [DOID:0110260]
synonym: "congenital cerulean type cataract 1" NARROW [DOID:0110260]
synonym: "CTRCT7" EXACT [DOID:0110260, MONDO:Lexical, OMIM:115660]
xref: DOID:0110260 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110260"}
xref: OMIM:115660 {source="DOID:0110260", source="MONDO:equivalentTo"}
is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344523
property_value: exactMatch DOID:0110260
property_value: exactMatch http://identifiers.org/omim/115660

[Term]
id: MONDO:0007280
name: cataract 8 multiple types
def: "A cataract that has_material_basis_in variation in the region 1pter-p36.13." [DOID:0110228, PMID:7607651]
synonym: "cataract 8, multiple types" RELATED [MONDO:Lexical, OMIM:115665]
synonym: "cataract 8, multiple types; CTRCT8" RELATED [OMIM:115665]
synonym: "cataract congenital Volkmann type" RELATED [GARD:0001146]
synonym: "cataract, congenital, Volkmann type" EXACT [DOID:0110228, OMIM:115665]
synonym: "CCV" EXACT EXCLUDE [DOID:0110228]
synonym: "CTRCT8" EXACT [DOID:0110228, MONDO:Lexical, OMIM:115665]
xref: DOID:0110228 {source="MONDO:equivalentTo"}
xref: GARD:0001146 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.0 {source="DOID:0110228"}
xref: MESH:C538285 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:115665 {source="DOID:0110228", source="MONDO:equivalentTo"}
xref: Orphanet:98983 {source="MONDO:obsoleteEquivalent", source="OMIM:115665"}
xref: UMLS:C1861833 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:115665", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110228
property_value: exactMatch http://identifiers.org/mesh/C538285
property_value: exactMatch http://identifiers.org/omim/115665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861833
property_value: exactMatch Orphanet:98983

[Term]
id: MONDO:0007281
name: cataract 4 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract (disease) caused by mutation in CRYGD" EXACT []
synonym: "cataract 4 multiple types with or without microcornea" EXACT [DOID:0110234]
synonym: "cataract 4, multiple types" RELATED [MONDO:Lexical, OMIM:115700]
synonym: "cataract 4, multiple types, with or without microcornea" RELATED [OMIM:115700]
synonym: "cataract 4, multiple types; CTRCT4" RELATED [OMIM:115700]
synonym: "cataract, congenital, cerulean type, 3" RELATED [OMIM:115700]
synonym: "cataract, crystalline aculeiform" RELATED [OMIM:115700]
synonym: "cataract, Nonnuclear polymorphic congenital" RELATED [OMIM:115700]
synonym: "cataract, punctate, progressive juvenile-onset" RELATED [OMIM:115700]
synonym: "CCA3" NARROW [DOID:0110234]
synonym: "congenital cataract cerulean type 3" NARROW [DOID:0110234]
synonym: "CRYGD cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT4" EXACT [DOID:0110234, MONDO:Lexical, OMIM:115700]
xref: DOID:0110234 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110234"}
xref: OMIM:115700 {source="MONDO:equivalentTo", source="DOID:0110234"}
is_a: MONDO:0005129 {source="DOID:0110234", source="MONDO:Redundant", source="OMIM:115700"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861832
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3540850
property_value: exactMatch DOID:0110234
property_value: exactMatch http://identifiers.org/omim/115700

[Term]
id: MONDO:0007282
name: cataract 29
def: "A cataract that has_material_basis_in variation in the region 2pter-p24." [DOID:0110232, PMID:15933805]
synonym: "cataract 29" EXACT [MONDO:Lexical, OMIM:115800]
synonym: "cataract 29 coralliform" EXACT [DOID:0110232]
synonym: "cataract 29, coralliform" RELATED [OMIM:115800]
synonym: "cataract 29; CTRCT29" RELATED [OMIM:115800]
synonym: "cataract type 29" EXACT [DOID:0110232, MONDORULE:2]
synonym: "CTRCT29" RELATED [MONDO:Lexical, OMIM:115800]
xref: DOID:0110232 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110232"}
xref: OMIM:115800 {source="MONDO:equivalentTo", source="DOID:0110232"}
xref: UMLS:C3805409 {source="MONDO:equivalentTo", source="OMIM:115800"}
is_a: MONDO:0020375 {source="ORDO:98990/btnt"} ! coralliform cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861831
property_value: exactMatch DOID:0110232
property_value: exactMatch http://identifiers.org/omim/115800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805409

[Term]
id: MONDO:0007283
name: cataract 42
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:115900"}
synonym: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35." EXACT [DOID:0110237, PMID:23508780]
synonym: "cataract 42" EXACT [MONDO:Lexical, OMIM:115900]
synonym: "cataract 42; CTRCT42" RELATED [OMIM:115900]
synonym: "cataract type 42" EXACT [DOID:0110237, MONDORULE:2, OMIM:115900]
synonym: "CRYBA2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT42" EXACT [DOID:0110237, MONDO:Lexical, OMIM:115900]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA2" EXACT [MONDO:design_pattern]
xref: DOID:0110237 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110237"}
xref: OMIM:115900 {source="DOID:0110237", source="MONDO:equivalentTo"}
xref: UMLS:C4011454 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861830
property_value: exactMatch DOID:0110237
property_value: exactMatch http://identifiers.org/omim/115900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011454

[Term]
id: MONDO:0007284
name: cataract 20 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract (disease) caused by mutation in CRYGS" EXACT []
synonym: "cataract 20, multiple types" RELATED [MONDO:Lexical, OMIM:116100]
synonym: "cataract 20, multiple types; CTRCT20" RELATED [OMIM:116100]
synonym: "CRYGS cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT20" EXACT [DOID:0110240, MONDO:Lexical, OMIM:116100]
xref: DOID:0110240 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110240"}
xref: OMIM:116100 {source="MONDO:equivalentTo", source="DOID:0110240"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524524
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3805410
property_value: exactMatch DOID:0110240
property_value: exactMatch http://identifiers.org/omim/116100

[Term]
id: MONDO:0007285
name: cataract 1 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAE1" NARROW [DOID:0110231]
synonym: "cataract (disease) caused by mutation in GJA8" EXACT []
synonym: "cataract 1, multiple types" RELATED [MONDO:Lexical, OMIM:116200]
synonym: "cataract 1, multiple types, with or without microcornea" EXACT [DOID:0110231, OMIM:116200]
synonym: "cataract 1, multiple types; CTRCT1" RELATED [OMIM:116200]
synonym: "cataract, Duffy-linked" RELATED [OMIM:116200]
synonym: "cataract, zonular pulverulent, 1" RELATED [OMIM:116200]
synonym: "CTRCT1" EXACT [DOID:0110231, MONDO:Lexical, OMIM:116200]
synonym: "CZP1" NARROW [DOID:0110231]
synonym: "Duffy linked cataract" EXACT [DOID:0110231]
synonym: "GJA8 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "zonular pulverulent cataract 1" NARROW [DOID:0110231]
xref: DOID:0110231 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110231"}
xref: MESH:C566158 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:116200 {source="MONDO:equivalentTo", source="DOID:0110231"}
xref: UMLS:C1861828 {source="OMIM:116200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110231", source="MESH:C566158", source="MONDO:Redundant", source="OMIM:116200"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome
property_value: exactMatch DOID:0110231
property_value: exactMatch http://identifiers.org/mesh/C566158
property_value: exactMatch http://identifiers.org/omim/116200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861828

[Term]
id: MONDO:0007286
name: cataract 30
def: "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13." [DOID:0110248, PMID:19126778]
synonym: "cataract 30" EXACT [MONDO:Lexical, OMIM:116300]
synonym: "cataract 30 pulverulent" EXACT [DOID:0110248]
synonym: "cataract 30, multiple types" RELATED [OMIM:116300]
synonym: "cataract 30, multiple types; CTRCT30" RELATED [OMIM:116300]
synonym: "cataract 30, pulverulent" RELATED [OMIM:116300]
synonym: "cataract 30; CTRCT30" RELATED [OMIM:116300]
synonym: "cataract Coppock-like" EXACT [DOID:0110248]
synonym: "cataract type 30" EXACT [DOID:0110248, MONDORULE:2, OMIM:116300]
synonym: "CTRCT30" EXACT [DOID:0110248, MONDO:Lexical, OMIM:116300]
synonym: "dusty cataract" EXACT EXCLUDE [DOID:0110248]
xref: DOID:0110248 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110248"}
xref: MESH:C566157 {source="MONDO:equivalentTo"}
xref: OMIM:116300 {source="DOID:0110248", source="MONDO:equivalentTo"}
xref: UMLS:C3805411 {source="OMIM:116300", source="MONDO:equivalentTo"}
is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861827
property_value: exactMatch DOID:0110248
property_value: exactMatch http://identifiers.org/mesh/C566157
property_value: exactMatch http://identifiers.org/omim/116300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805411

[Term]
id: MONDO:0007287
name: cataract 41
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 41" EXACT [MONDO:Lexical, OMIM:116400]
synonym: "cataract 41, congenital nuclear type" RELATED [OMIM:116400]
synonym: "cataract 41; CTRCT41" RELATED [OMIM:116400]
synonym: "cataract type 41" EXACT [DOID:0110241, MONDORULE:2, OMIM:116400]
synonym: "congenital nuclear type cataract 41" EXACT [DOID:0110241]
synonym: "CTRCT41" EXACT [DOID:0110241, MONDO:Lexical, OMIM:116400]
synonym: "early-onset non-syndromic cataract caused by mutation in WFS1" EXACT [MONDO:design_pattern]
synonym: "WFS1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110241 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110241"}
xref: OMIM:116400 {source="MONDO:equivalentTo", source="DOID:0110241"}
xref: UMLS:C3805412 {source="OMIM:116400", source="MONDO:equivalentTo"}
is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861826
property_value: exactMatch DOID:0110241
property_value: exactMatch http://identifiers.org/omim/116400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805412

[Term]
id: MONDO:0007288
name: cataract 6 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related cortical cataract 2" NARROW [DOID:0110229]
synonym: "ARCC2" NARROW [DOID:0110229]
synonym: "cataract (disease) caused by mutation in EPHA2" EXACT []
synonym: "cataract 6, multiple types" RELATED [MONDO:Lexical, OMIM:116600]
synonym: "cataract 6, multiple types; CTRCT6" RELATED [OMIM:116600]
synonym: "cataract, age-related cortical, 2" RELATED [OMIM:116600]
synonym: "cataract, posterior polar, 1" RELATED [OMIM:116600]
synonym: "CTPA" RELATED [GARD:0010234]
synonym: "CTPP" RELATED [GARD:0010234]
synonym: "CTPP1" NARROW [DOID:0110229]
synonym: "CTRCT6" EXACT [DOID:0110229, MONDO:Lexical, OMIM:116600]
synonym: "EPHA2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "posterior polar cataract 1" NARROW [DOID:0110229]
synonym: "Posterior polar cataract, 1" RELATED [GARD:0010234]
xref: DOID:0110229 {source="MONDO:equivalentTo"}
xref: GARD:0010234 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.0 {source="DOID:0110229"}
xref: OMIM:116600 {source="DOID:0110229", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861825
property_value: exactMatch DOID:0110229
property_value: exactMatch http://identifiers.org/omim/116600

[Term]
id: MONDO:0007289
name: cataract 13 with adult I phenotype
def: "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." [DOID:0110242, PMID:11739194]
comment: Not in the OMIM series. {source="OMIM:116700"}
synonym: "cataract 13 with adult I phenotype" EXACT [MONDO:Lexical, OMIM:116700]
synonym: "cataract 13 with ADULT i phenotype; CTRCT13" RELATED [OMIM:116700]
synonym: "CTRCT13" EXACT [DOID:0110242, MONDO:Lexical, OMIM:116700]
xref: DOID:0110242 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110242"}
xref: OMIM:116700 {source="MONDO:equivalentTo", source="DOID:0110242"}
xref: UMLS:C3805373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110242
property_value: exactMatch http://identifiers.org/omim/116700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805373

[Term]
id: MONDO:0007290
name: cataract 5 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract (disease) caused by mutation in HSF4" EXACT []
synonym: "cataract 5, multiple types" RELATED [MONDO:Lexical, OMIM:116800]
synonym: "cataract 5, multiple types; CTRCT5" RELATED [OMIM:116800]
synonym: "cataract, lamellar" RELATED [OMIM:116800]
synonym: "cataract, Marner type" RELATED [OMIM:116800]
synonym: "CTRCT5" EXACT [DOID:0110255, MONDO:Lexical, OMIM:116800]
synonym: "HSF4 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110255 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110255"}
xref: MESH:C535342 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:116800 {source="MONDO:equivalentTo", source="DOID:0110255"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861821
property_value: exactMatch DOID:0110255
property_value: exactMatch http://identifiers.org/mesh/C535342
property_value: exactMatch http://identifiers.org/omim/116800

[Term]
id: MONDO:0007291
name: familial cerebral cavernous malformation
def: "Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." [Orphanet:221061]
subset: ordo_malformation_syndrome {source="Orphanet:221061"}
synonym: "cavernous angioma, familial" RELATED [OMIM:116860]
synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860]
synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860]
synonym: "CCM" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "cerebral capillary malformations" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "cerebral cavernous malformations; CCM" RELATED [OMIM:116860]
synonym: "familial brain cavernous angioma" EXACT [Orphanet:221061]
synonym: "familial brain cavernous hemangioma" EXACT [Orphanet:221061]
synonym: "familial cerebral cavernoma" EXACT [Orphanet:221061]
synonym: "hereditary brain cavernous angioma" EXACT [Orphanet:221061]
synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061]
synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061]
synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061]
synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860]
xref: ICD10:Q28.3 {source="ORDO:221061/attributed", source="ORDO:221061/ntbt", source="Orphanet:221061"}
xref: Orphanet:221061 {source="OMIM:116860", source="MONDO:equivalentTo"}
xref: SCTID:717003001 {source="MONDO:kboom-pr-1.00/0.79/7.64", source="MONDO:equivalentTo"}
xref: UMLS:C2931263 {source="MONDO:equivalentTo", source="Orphanet:221061"}
is_a: MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant"} ! cerebral cavernous malformation
is_a: MONDO:0015145 {source="Orphanet:221061"} ! neurovascular malformation
is_a: MONDO:0015953 {source="Orphanet:221061", source="Orphanet:221061/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018730 {source="MONDO:Redundant", source="Orphanet:221061"} ! rare genetic venous malformation
intersection_of: MONDO:0000820 ! cerebral cavernous malformation
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1366911
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861784
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861785
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861786
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2919945
property_value: exactMatch http://identifiers.org/snomedct/717003001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931263
property_value: exactMatch Orphanet:221061

[Term]
id: MONDO:0007292
name: celiac artery stenosis from compression by median arcuate ligament of diaphragm
synonym: "celiac artery stenosis from compression by median arcuate ligament of diaphragm" EXACT [OMIM:116870]
xref: MESH:C566151 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:116870 {source="MONDO:equivalentTo"}
xref: UMLS:C1861783 {source="OMIM:116870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566151
property_value: exactMatch http://identifiers.org/omim/116870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861783

[Term]
id: MONDO:0007293
name: leukocyte adhesion deficiency 1
def: "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." [Orphanet:99842]
subset: ordo_clinical_subtype {source="Orphanet:99842"}
synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920]
synonym: "lad 1" RELATED [GARD:0006893]
synonym: "lad-I" EXACT [Orphanet:99842]
synonym: "lad-type I" EXACT [NCIT:C4689]
synonym: "LAD1" EXACT [DOID:0110910]
synonym: "Lad1" RELATED [OMIM:116920]
synonym: "leukocyte adhesion deficiency caused by mutation in ITGB2" EXACT [MONDO:design_pattern]
synonym: "leukocyte adhesion deficiency type 1" EXACT [DOID:0110910, MONDORULE:1]
synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910]
synonym: "leukocyte adhesion deficiency, type 1" RELATED [OMIM:116920]
synonym: "leukocyte adhesion deficiency, type I" RELATED [MONDO:Lexical, OMIM:116920]
synonym: "leukocyte adhesion deficiency, type I; lad" RELATED [OMIM:116920]
synonym: "LFA 1 immunodeficiency" RELATED [GARD:0006893]
synonym: "LFA-I deficiency" EXACT [NCIT:C4689]
synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910]
synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920]
synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920]
xref: DOID:0110910 {source="MONDO:equivalentTo"}
xref: GARD:0006893 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D84.8 {source="Orphanet:99842", source="ORDO:99842/attributed", source="ORDO:99842/ntbt"}
xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99842/e"}
xref: NCIT:C4689 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:116920 {source="DOID:0110910", source="Orphanet:99842", source="MONDO:equivalentTo", source="ORDO:99842/e"}
xref: Orphanet:99842 {source="DOID:0110910", source="MONDO:equivalentTo", source="OMIM:116920"}
xref: SCTID:234582006 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0398738 {source="Orphanet:99842", source="MONDO:equivalentTo", source="OMIM:116920", source="NCIT:C4689", source="ORDO:99842/e"}
is_a: MONDO:0017570 {source="DOID:0110910", source="MONDO:Redundant", source="NCIT:C4689", source="Orphanet:99842", source="linkedlifedata"} ! leukocyte adhesion deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861766
property_value: exactMatch DOID:0110910
property_value: exactMatch http://identifiers.org/mesh/C535887
property_value: exactMatch http://identifiers.org/omim/116920
property_value: exactMatch http://identifiers.org/snomedct/234582006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398738
property_value: exactMatch NCIT:C4689
property_value: exactMatch Orphanet:99842

[Term]
id: MONDO:0007294
name: central core myopathy
def: "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:597"}
synonym: "CCD" RELATED [MONDO:Lexical, OMIM:117000]
synonym: "Cco" RELATED [OMIM:117000]
synonym: "central core disease" EXACT [DOID:3529, MTHICD9_2006:359.0]
synonym: "central CORE disease of muscle" RELATED [MONDO:Lexical, OMIM:117000]
synonym: "central CORE disease of muscle; CCD" RELATED [OMIM:117000]
synonym: "minicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "multicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "multiminicore disease, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "muscle core disease" RELATED [GARD:0006014]
synonym: "muscular central core disease" RELATED [GARD:0006014]
synonym: "myopathy, central core" RELATED [GARD:0006014]
synonym: "myopathy, central fibrillar" RELATED [GARD:0006014]
synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [OMIM:117000]
synonym: "Shy-Magee syndrome" RELATED [GARD:0006014]
xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"}
xref: EFO:1000855 {source="MONDO:equivalentTo"}
xref: GARD:0006014 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:597/inclusion", source="DOID:3529", source="ORDO:597/ntbt", source="Orphanet:597"}
xref: MESH:D020512 {source="MONDO:equivalentTo", source="DOID:3529", source="EFO:1000855"}
xref: NCIT:C83010 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3529"}
xref: OMIM:117000 {source="MONDO:equivalentTo", source="DOID:3529", source="ORDO:597/e", source="Orphanet:597"}
xref: Orphanet:597 {source="OMIM:117000", source="MONDO:equivalentTo"}
xref: SCTID:43152001 {source="MONDO:equivalentTo", source="DOID:3529", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751951 {source="OMIM:117000", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C83010", source="DOID:3529", source="Orphanet:597"}
is_a: MONDO:0015765 {source="Orphanet:597"} ! congenital myopathy with cores
is_a: MONDO:0018943 {source="NCIT:C83010"} ! myofibrillar myopathy (disease)
is_a: MONDO:0100150 ! RYR1-related myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861751
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861752
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674259
property_value: exactMatch DOID:3529
property_value: exactMatch http://identifiers.org/mesh/D020512
property_value: exactMatch http://identifiers.org/omim/117000
property_value: exactMatch http://identifiers.org/snomedct/43152001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751951
property_value: exactMatch NCIT:C83010
property_value: exactMatch Orphanet:597

[Term]
id: MONDO:0007295
name: rolandic epilepsy
def: "Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome." [Orphanet:1945]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1945"}
synonym: "BCECTS" EXACT [DOID:3329, https://en.wikipedia.org/wiki/Rolandic_epilepsy]
synonym: "BECRS" EXACT [Orphanet:1945]
synonym: "BECTS" EXACT [Orphanet:1945]
synonym: "benign childhood epilepsy with centrotemporal spike" EXACT [DOID:3329]
synonym: "benign childhood epilepsy with centrotemporal spikes" EXACT [NCIT:C116538]
synonym: "benign epilepsy of childhood with centrotemporal spikes" EXACT [Orphanet:1945]
synonym: "benign epilepsy of childhood with centrotemporal spikes (BECCT)" RELATED [GARD:0010287]
synonym: "benign epilepsy with centro-temporal spikes (BECTS)" RELATED [GARD:0010287]
synonym: "benign epilepsy with centrotemporal spikes" EXACT [MONDO:0002611]
synonym: "benign familial epilepsy of childhood with rolandic spikes" EXACT [Orphanet:1945]
synonym: "benign Rolandic epilepsy" EXACT [DOID:3329, OMIM:117100]
synonym: "benign rolandic epilepsy" EXACT [Orphanet:1945]
synonym: "benign rolandic epilepsy (BRE)" RELATED [GARD:0010287]
synonym: "benign rolandic epilepsy of childhood (BREC)" RELATED [GARD:0010287]
synonym: "BRE" EXACT [Orphanet:1945]
synonym: "CENTRALOPATHIC epilepsy" RELATED [OMIM:117100]
synonym: "centrotemporal epilepsy" EXACT [OMIM:117100, Orphanet:1945]
synonym: "rolandic epilepsy" EXACT [DOID:3329]
synonym: "sylvan seizures" EXACT [DOID:3329]
synonym: "temporal-central focal epilepsy" RELATED [OMIM:117100]
xref: DOID:3329 {source="MONDO:equivalentTo"}
xref: GARD:0010287 {source="MONDO:equivalentTo"}
xref: ICD10:G40.0 {source="ORDO:1945/attributed", source="ORDO:1945/ntbt", source="Orphanet:1945"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116538 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: OMIM:117100 {source="GARD:0010287", source="MONDO:equivalentTo", source="Orphanet:1945", source="ORDO:1945/e"}
xref: Orphanet:1945 {source="OMIM:117100", source="MONDO:equivalentTo"}
xref: SCTID:44145005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0376532 {source="MONDO:equivalentTo", source="Orphanet:1945", source="DOID:3329"}
xref: UMLS:C2363129 {source="OMIM:117100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1945", source="MEDGEN:kboom-pr94-c94", source="NCIT:C116538"}
xref: UMLS:CN200685 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009509 {source="MONDOLEX:0007295"} ! Landau-Kleffner syndrome
is_a: MONDO:0017704 {source="Orphanet:1945"} ! familial partial epilepsy
property_value: closeMatch http://identifiers.org/mesh/D019305
property_value: exactMatch DOID:3329
property_value: exactMatch http://identifiers.org/omim/117100
property_value: exactMatch http://identifiers.org/snomedct/44145005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200685
property_value: exactMatch NCIT:C116538
property_value: exactMatch Orphanet:1945
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre xsd:anyURI {source="GARD:0010287"}

[Term]
id: MONDO:0007296
name: spinocerebellar ataxia type 31
def: "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." [Orphanet:217012]
subset: ordo_disease {source="Orphanet:217012"}
synonym: "SCA31" EXACT [MONDO:Lexical, OMIM:117210, Orphanet:217012]
synonym: "spinocerebellar ataxia 16q22-linked" RELATED [GARD:0009975]
synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical, OMIM:117210]
synonym: "spinocerebellar ataxia 31; SCA31" RELATED [OMIM:117210]
synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210]
synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210]
xref: DOID:0050980 {source="MONDO:equivalentTo"}
xref: GARD:0009975 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:217012/attributed", source="ORDO:217012/ntbt", source="Orphanet:217012"}
xref: MESH:C566146 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117210 {source="DOID:0050980", source="MONDO:equivalentTo", source="Orphanet:217012", source="ORDO:217012/e"}
xref: Orphanet:217012 {source="OMIM:117210", source="MONDO:equivalentTo"}
xref: SCTID:715826005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1861736 {source="OMIM:117210", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:217012"}
xref: UMLS:C4274986 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="Orphanet:217012"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050980
property_value: exactMatch http://identifiers.org/mesh/C566146
property_value: exactMatch http://identifiers.org/omim/117210
property_value: exactMatch http://identifiers.org/snomedct/715826005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274986
property_value: exactMatch Orphanet:217012

[Term]
id: MONDO:0007297
name: ADan amyloidosis
def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070030]
subset: ordo_clinical_subtype {source="Orphanet:97346"}
synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030]
synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [OMIM:117300]
synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 2" RELATED [OMIM:117300]
synonym: "cerebral amyloid angiopathy, ITM2B-related, type 2" EXACT [MONDORULE:1, OMIM:117300]
synonym: "dementia, familial Danish" RELATED [OMIM:117300]
synonym: "familial Danish dementia" EXACT [DOID:0070030, OMIM:117300]
synonym: "familial dementia, Danish type" EXACT [Orphanet:97346]
synonym: "FDD" EXACT [DOID:0070030]
synonym: "Heredopathia Ophthalmootoencephalica" EXACT [DOID:0070030, OMIM:117300]
synonym: "HOOE" EXACT [DOID:0070030]
synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030]
xref: DOID:0070030 {source="MONDO:equivalentTo"}
xref: GARD:0009169 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E85.4+ {source="Orphanet:97346", source="ORDO:97346/attributed", source="ORDO:97346/ntbt"}
xref: ICD10:I68.0* {source="Orphanet:97346", source="ORDO:97346/attributed", source="ORDO:97346/ntbt"}
xref: MESH:C538209 {source="ORDO:97346/e", source="Orphanet:97346", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117300 {source="ORDO:97346/e", source="Orphanet:97346", source="MONDO:equivalentTo", source="DOID:0070030"}
xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"}
xref: UMLS:C1861735 {source="ORDO:97346/e", source="OMIM:117300", source="Orphanet:97346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0005620 {source="DC-OMIM:117300", source="DOID:0070030"} ! cerebral amyloid angiopathy
is_a: MONDO:0018591 {source="Orphanet:97346"} ! ITM2B amyloidosis
property_value: exactMatch DOID:0070030
property_value: exactMatch http://identifiers.org/mesh/C538209
property_value: exactMatch http://identifiers.org/omim/117300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861735
property_value: exactMatch Orphanet:97346

[Term]
id: MONDO:0007298
name: spinocerebellar ataxia type 29
def: "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." [Orphanet:208513]
subset: ordo_disease {source="Orphanet:208513"}
synonym: "ACV" RELATED [GARD:0010480]
synonym: "aplasia of cerebellar vermis" RELATED [OMIM:117360]
synonym: "cerebellar ataxia early-onset nonprogressive" RELATED [GARD:0010480]
synonym: "cerebellar ataxia, congenital nonprogressive, autosomal dominant" RELATED [OMIM:117360]
synonym: "cerebellar vermis aplasia" RELATED [OMIM:117360]
synonym: "congenital nonprogressive spinocerebellar ataxia" EXACT [Orphanet:208513]
synonym: "SCA29" EXACT [MONDO:Lexical, OMIM:117360, Orphanet:208513]
synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical, OMIM:117360]
synonym: "spinocerebellar ataxia 29; SCA29" RELATED [OMIM:117360]
synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360]
xref: DOID:0050978 {source="MONDO:equivalentTo"}
xref: GARD:0010480 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.0 {source="ORDO:208513/attributed", source="ORDO:208513/ntbt", source="Orphanet:208513"}
xref: MESH:C537206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117360 {source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513", source="ORDO:208513/e"}
xref: Orphanet:208513 {source="MONDO:equivalentTo", source="OMIM:117360"}
xref: SCTID:715825009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1861732 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:117360", source="Orphanet:208513"}
xref: UMLS:C4274987 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:208513"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050978
property_value: exactMatch http://identifiers.org/mesh/C537206
property_value: exactMatch http://identifiers.org/omim/117360
property_value: exactMatch http://identifiers.org/snomedct/715825009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274987
property_value: exactMatch Orphanet:208513

[Term]
id: MONDO:0007299
name: Sotos syndrome 1
def: "Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebral gigantism" RELATED [OMIM:117550]
synonym: "chromosome 5Q35 deletion syndrome" RELATED [OMIM:117550]
synonym: "NSD1 Sotos syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Sotos syndrome" RELATED [OMIM:117550]
synonym: "Sotos syndrome 1" EXACT [MONDO:Lexical, OMIM:117550]
synonym: "Sotos syndrome 1; SOTOS1" RELATED [OMIM:117550]
synonym: "Sotos syndrome caused by mutation in NSD1" EXACT [MONDO:design_pattern]
synonym: "Sotos syndrome type 1" EXACT [MONDORULE:1, OMIM:117550]
synonym: "SOTOS1" RELATED [MONDO:Lexical, OMIM:117550]
xref: OMIM:117550 {source="MONDO:equivalentTo"}
xref: SCTID:75968004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:CN035106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019349 {source="DC-OMIM:117550", source="MONDO:Redundant", source="OMIM:117550"} ! Sotos syndrome
property_value: exactMatch http://identifiers.org/omim/117550
property_value: exactMatch http://identifiers.org/snomedct/75968004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035106

[Term]
id: MONDO:0007300
name: cerebral sarcoma
def: "A sarcoma involving a telencephalon." [MONDO:patterns/sarcoma]
subset: gard_rare {source="GARD:0010073"}
synonym: "cerebral sarcoma" EXACT [OMIM:117600]
synonym: "sarcoma of telencephalon" EXACT [MONDO:patterns/sarcoma]
synonym: "telencephalon sarcoma" EXACT [MONDO:patterns/location]
xref: GARD:0010073 {source="MONDO:equivalentTo"}
xref: MESH:C537946 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861714 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:117600"}
is_a: MONDO:0002216 ! brain sarcoma
property_value: exactMatch http://identifiers.org/mesh/C537946
property_value: exactMatch http://identifiers.org/omim/117600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861714
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma xsd:anyURI {source="GARD:0010073"}

[Term]
id: MONDO:0007301
name: cerebrocostomandibular syndrome
def: "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." [Orphanet:1393]
subset: ordo_malformation_syndrome {source="Orphanet:1393"}
synonym: "CCM syndrome" RELATED [GARD:0006026]
synonym: "CCMS" RELATED [MONDO:Lexical, OMIM:117650]
synonym: "cerebro-costo-mandibular syndrome" RELATED [GARD:0006026]
synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650]
synonym: "CEREBROCOSTOMANDIBULAR syndrome; CCMS" RELATED [OMIM:117650]
synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650]
xref: GARD:0006026 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1393/attributed", source="ORDO:1393/ntbt", source="Orphanet:1393"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562538 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117650 {source="MONDO:equivalentTo", source="ORDO:1393/e", source="Orphanet:1393"}
xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"}
xref: SCTID:51780007 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
xref: UMLS:C0265342 {source="OMIM:117650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1393/e", source="Orphanet:1393"}
is_a: MONDO:0019711 {source="Orphanet:1393"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1393"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C562538
property_value: exactMatch http://identifiers.org/omim/117650
property_value: exactMatch http://identifiers.org/snomedct/51780007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265342
property_value: exactMatch Orphanet:1393

[Term]
id: MONDO:0007302
name: cervical hypertrichosis with underlying kyphoscoliosis
synonym: "cervical hypertrichosis with underlying kyphoscoliosis" EXACT [OMIM:117850]
synonym: "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" RELATED [OMIM:117850]
xref: MESH:C566142 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117850 {source="MONDO:equivalentTo"}
xref: UMLS:C1861695 {source="OMIM:117850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566142
property_value: exactMatch http://identifiers.org/omim/117850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861695

[Term]
id: MONDO:0007303
name: cervical rib
def: "A rib that is attached to a cervical vertebra." [http://orcid.org/0000-0002-6601-2165]
comment: Editor note: see https://github.com/monarch-initiative/monarch-disease-ontology/issues/405
synonym: "cervical rib" EXACT [OMIM:117900]
synonym: "cervical rib syndrome" EXACT [MONDO:0006695]
xref: COHD:79144 {source="MONDO:equivalentTo"}
xref: EFO:1000861 {source="MONDO:equivalentTo"}
xref: HP:0000891 {source="MONDO:cjm", source="MONDO:otherHierarchy"}
xref: ICD9:756.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008301 {source="EFO:1000861"}
xref: MESH:D002573 {source="EFO:1000861", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:117900 {source="MONDO:equivalentTo"}
xref: SCTID:72535009 {source="MONDO:kboom-pr-0.89/0.77/0.13", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch DOID:3102
property_value: closeMatch http://identifiers.org/meddra/10008301
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158779
property_value: exactMatch http://identifiers.org/mesh/D002573
property_value: exactMatch http://identifiers.org/omim/117900
property_value: exactMatch http://identifiers.org/snomedct/72535009

[Term]
id: MONDO:0007304
name: cervical vertebral Bridge
synonym: "cervical vertebral Bridge" EXACT [OMIM:118000]
xref: OMIM:118000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861694
property_value: exactMatch http://identifiers.org/omim/118000

[Term]
id: MONDO:0007305
name: cervical vertebral dysplasia (disease)
synonym: "cervical vertebral dysplasia" EXACT [MONDO:ambiguous, OMIM:118005]
xref: HP:0008469 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C566140 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118005 {source="MONDO:equivalentTo"}
xref: UMLS:C1861693 {source="NCBI:mim2gene_medline", source="OMIM:118005", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566140
property_value: exactMatch http://identifiers.org/omim/118005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861693

[Term]
id: MONDO:0007306
name: Klippel-Feil syndrome 1, autosomal dominant
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cervical vertebral fusion, autosomal dominant" RELATED [OMIM:118100]
synonym: "GDF6 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "Kfs" RELATED [OMIM:118100]
synonym: "KFS1" RELATED [MONDO:Lexical, OMIM:118100]
synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [MONDO:Lexical, OMIM:118100]
synonym: "Klippel-FEIL syndrome 1, autosomal dominant; KFS1" RELATED [OMIM:118100]
xref: MESH:C536887 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118100 {source="MONDO:equivalentTo"}
xref: UMLS:C1861689 {source="OMIM:118100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/mesh/C536887
property_value: exactMatch http://identifiers.org/omim/118100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861689

[Term]
id: MONDO:0007307
name: Charcot-Marie-Tooth disease type 1B
def: "age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases." [Orphanet:101082]
subset: ordo_disease {source="Orphanet:101082"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [DOID:0110152]
synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246]
synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [DOID:0110152]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical, OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B; CMT1B" RELATED [OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" RELATED [OMIM:118200]
synonym: "Charcot-Marie-Tooth neuropathy type 1B" EXACT [DOID:0110152]
synonym: "Charcot-Marie-Tooth neuropathy, type 1B" RELATED [OMIM:118200]
synonym: "CMT 1B" RELATED [GARD:0001246]
synonym: "CMT1B" EXACT [DOID:0110152, MONDO:Lexical, OMIM:118200, Orphanet:101082]
synonym: "hereditary motor and sensory neuropathy 1" RELATED [OMIM:118200]
synonym: "hereditary motor and sensory neuropathy 1B" RELATED [OMIM:118200]
synonym: "hereditary motor and sensory neuropathy IB" EXACT [DOID:0110152]
synonym: "HMSN 1B" RELATED [GARD:0001246]
synonym: "HMSN IB" EXACT [DOID:0110152]
synonym: "HMSN1" RELATED [OMIM:118200]
synonym: "HMSN1B" EXACT [DOID:0110152]
synonym: "HMSN1B" RELATED [OMIM:118200]
synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "peroneal muscular atrophy" EXACT EXCLUDE [DOID:0110152]
xref: DOID:0110152 {source="MONDO:equivalentTo"}
xref: GARD:0001246 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:101082/attributed", source="ORDO:101082/ntbt", source="DOID:0110152", source="Orphanet:101082"}
xref: NCIT:C118782 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:118200 {source="MONDO:equivalentTo", source="DOID:0110152", source="ORDO:101082/e", source="Orphanet:101082"}
xref: Orphanet:101082 {source="OMIM:118200", source="MONDO:equivalentTo", source="DOID:0110152"}
xref: UMLS:C0270912 {source="NCIT:C118782", source="OMIM:118200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101082/e", source="Orphanet:101082"}
is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate d
is_a: MONDO:0019011 {source="DOID:0110152", source="MONDO:Redundant", source="Orphanet:101082"} ! Charcot-Marie-Tooth disease type 1
property_value: exactMatch DOID:0110152
property_value: exactMatch http://identifiers.org/omim/118200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270912
property_value: exactMatch NCIT:C118782
property_value: exactMatch Orphanet:101082

[Term]
id: MONDO:0007308
name: Charcot-Marie-Tooth disease type 2A1
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." [Orphanet:99946]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99946"}
subset: prototype_pattern
synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [DOID:0110154]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [Orphanet:99946]
synonym: "Charcot Marie Tooth disease type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [DOID:0110154]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2A" EXACT [NCIT:C134952]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" RELATED [MONDO:Lexical, OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1; CMT2A1" RELATED [OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" RELATED [OMIM:118210]
synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [DOID:0110154]
synonym: "Charcot-Marie-Tooth neuropathy, type 2A1" RELATED [OMIM:118210]
synonym: "CMT 2A" RELATED [GARD:0001248]
synonym: "CMT2A" EXACT [NCIT:C134952]
synonym: "CMT2A1" EXACT [DOID:0110154, MONDO:Lexical, OMIM:118210, Orphanet:99946]
synonym: "hereditary motor and sensory neuropathy 2 A" RELATED [GARD:0001248]
synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154]
synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [OMIM:118210]
synonym: "HMSN IIA" RELATED [GARD:0001248]
synonym: "HMSN IIA1" EXACT [DOID:0110154]
synonym: "HMSN IIa1" RELATED [OMIM:118210]
synonym: "HMSN2A1" EXACT [DOID:0110154]
synonym: "HMSN2A1" RELATED [OMIM:118210]
synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110154 {source="MONDO:equivalentTo"}
xref: GARD:0001248 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99946/attributed", source="ORDO:99946/ntbt", source="Orphanet:99946", source="DOID:0110154"}
xref: MESH:C566138 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C134952 {source="MONDO:equivalentTo"}
xref: OMIM:118210 {source="ORDO:99946/e", source="MONDO:equivalentTo", source="Orphanet:99946", source="GARD:0001248", source="DOID:0110154"}
xref: Orphanet:99946 {source="OMIM:118210", source="MONDO:equivalentTo", source="DOID:0110154"}
xref: SCTID:717016001 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110154", source="MONDO:Redundant", source="Orphanet:99946"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861678
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2079538
property_value: exactMatch DOID:0110154
property_value: exactMatch http://identifiers.org/mesh/C566138
property_value: exactMatch http://identifiers.org/omim/118210
property_value: exactMatch http://identifiers.org/snomedct/717016001
property_value: exactMatch NCIT:C134952
property_value: exactMatch Orphanet:99946
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a xsd:anyURI {source="GARD:0001248"}

[Term]
id: MONDO:0007309
name: Charcot-Marie-Tooth disease type 1A
def: "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves . Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication ) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." [https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a]
subset: gard_rare {source="GARD:0001245"}
subset: ordo_disease {source="Orphanet:101081"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [DOID:0110148]
synonym: "Charcot Marie Tooth disease type 1A" RELATED [GARD:0001245]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" RELATED [OMIM:118220]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" RELATED [GARD:0001245, MONDO:Lexical, OMIM:118220]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A; CMT1A" RELATED [OMIM:118220]
synonym: "Charcot-Marie-Tooth neuropathy type 1A" EXACT [DOID:0110148]
synonym: "Charcot-Marie-Tooth neuropathy, type 1A" RELATED [OMIM:118220]
synonym: "CMT 1A" RELATED [GARD:0001245]
synonym: "CMT1A" EXACT [DOID:0110148, MONDO:Lexical, OMIM:118220, Orphanet:101081]
synonym: "hereditary motor and sensory neuropathy 1A" EXACT [DOID:0110148, OMIM:118220]
synonym: "HMSN 1A" RELATED [GARD:0001245]
synonym: "HMSN1A" EXACT [DOID:0110148]
synonym: "HMSN1A" RELATED [OMIM:118220]
synonym: "microduplication 17p12" EXACT [DOID:0110148, Orphanet:101081]
xref: DOID:0110148 {source="MONDO:equivalentTo"}
xref: GARD:0001245 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110148", source="ORDO:101081/attributed", source="ORDO:101081/ntbt", source="Orphanet:101081"}
xref: NCIT:C75468 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="ORDO:101081/e"}
xref: Orphanet:101081 {source="DOID:0110148", source="MONDO:equivalentTo", source="OMIM:118220"}
xref: UMLS:C0270911 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101081", source="ORDO:101081/e", source="OMIM:118220", source="NCIT:C75468"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016950 {source="Orphanet:101081"} ! partial duplication of the short arm of chromosome 17
is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-Tooth disease type 1
property_value: exactMatch DOID:0110148
property_value: exactMatch http://identifiers.org/omim/118220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270911
property_value: exactMatch NCIT:C75468
property_value: exactMatch Orphanet:101081
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a xsd:anyURI {source="GARD:0001245"}

[Term]
id: MONDO:0007310
name: Charcot-Marie-Tooth disease, Guadalajara neuronal type
comment: Editor note: consider relationship to type 2
synonym: "Charcot-Marie-Tooth disease, Guadalajara neuronal type" EXACT [OMIM:118230]
xref: MESH:C566137 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118230 {source="MONDO:equivalentTo"}
xref: UMLS:C1861673 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118230"}
is_a: MONDO:0015626 {source="MESH:C566137"} ! Charcot-Marie-Tooth disease
property_value: exactMatch http://identifiers.org/mesh/C566137
property_value: exactMatch http://identifiers.org/omim/118230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861673

[Term]
id: MONDO:0007311
name: Charcot-Marie-Tooth disease type 1E
def: "mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome; see these terms) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." [Orphanet:90658]
subset: ordo_disease {source="Orphanet:90658"}
synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [DOID:0110153]
synonym: "Charcot Marie Tooth disease type 1E" RELATED [GARD:0009190]
synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1E" RELATED [OMIM:118300]
synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease-deafness syndrome" EXACT [Orphanet:90658]
synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELATED [OMIM:118300]
synonym: "CMT 1E" RELATED [GARD:0009190]
synonym: "CMT1E" EXACT [DOID:0110153, Orphanet:90658]
xref: DOID:0110153 {source="MONDO:equivalentTo"}
xref: GARD:0009190 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:90658/attributed", source="ORDO:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"}
xref: MESH:C537986 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="Orphanet:90658"}
xref: OMIM:118300 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="DOID:0110153", source="Orphanet:90658"}
xref: Orphanet:90658 {source="OMIM:118300", source="MONDO:equivalentTo", source="DOID:0110153"}
xref: UMLS:C2931686 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="Orphanet:90658"}
is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-Tooth disease type 1
is_a: MONDO:0019589 {source="Orphanet:90658"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495591
property_value: exactMatch DOID:0110153
property_value: exactMatch http://identifiers.org/mesh/C537986
property_value: exactMatch http://identifiers.org/mesh/C538078
property_value: exactMatch http://identifiers.org/omim/118300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931686
property_value: exactMatch Orphanet:90658

[Term]
id: MONDO:0007312
name: Charcot-Marie-Tooth disease with ptosis and parkinsonism
synonym: "Charcot-Marie-Tooth disease with ptosis and parkinsonism" EXACT [OMIM:118301]
xref: MESH:C538079 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118301 {source="MONDO:equivalentTo"}
xref: UMLS:C1861668 {source="OMIM:118301", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538079/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538079
property_value: exactMatch http://identifiers.org/omim/118301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861668

[Term]
id: MONDO:0007313
name: cheilitis glandularis
def: "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." [Orphanet:1221]
subset: gard_rare {source="GARD:0000412"}
subset: ordo_disease {source="Orphanet:1221"}
synonym: "cheilitis glandularis" EXACT [OMIM:118330]
xref: GARD:0000412 {source="MONDO:equivalentTo"}
xref: ICD10:K13.0 {source="Orphanet:1221", source="ORDO:1221/ntbt"}
xref: MESH:C535921 {source="ORDO:1221/e", source="Orphanet:1221", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118330 {source="ORDO:1221/e", source="Orphanet:1221", source="MONDO:equivalentTo"}
xref: Orphanet:1221 {source="MONDO:equivalentTo", source="OMIM:118330"}
xref: SCTID:26374003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.34"}
xref: UMLS:C0267034 {source="ORDO:1221/e", source="Orphanet:1221", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118330"}
is_a: MONDO:0019546 {source="Orphanet:1221"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/mesh/C535921
property_value: exactMatch http://identifiers.org/omim/118330
property_value: exactMatch http://identifiers.org/snomedct/26374003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267034
property_value: exactMatch Orphanet:1221
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis xsd:anyURI {source="GARD:0000412"}

[Term]
id: MONDO:0007314
name: chemodectoma, intraabdominal, with cutaneous angiolipomas
synonym: "abdominal chemodectomas with cutaneous angiolipomas" RELATED [GARD:0001265]
synonym: "chemodectoma, intraabdominal, with cutaneous angiolipomas" EXACT [OMIM:118350]
xref: GARD:0001265 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535552 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118350 {source="MONDO:equivalentTo"}
xref: UMLS:C2930928 {source="MONDO:equivalentTo", source="OMIM:118350"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861667
property_value: exactMatch http://identifiers.org/mesh/C535552
property_value: exactMatch http://identifiers.org/omim/118350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930928

[Term]
id: MONDO:0007315
name: cherubism
def: "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." [Orphanet:184]
subset: gard_rare {source="GARD:0006036"}
subset: ordo_malformation_syndrome {source="Orphanet:184"}
synonym: "cherubism" EXACT [OMIM:118400]
synonym: "CRBM" EXACT [Orphanet:184]
synonym: "Crbm" RELATED [OMIM:118400]
synonym: "familial fibrous dysplasia of the jaws" EXACT [NCIT:C84630]
synonym: "familial multilocular cystic disease of the jaws" EXACT [NCIT:C84630]
xref: DOID:1856 {source="MONDO:equivalentTo"}
xref: GARD:0006036 {source="MONDO:equivalentTo"}
xref: ICD10:K10.8 {source="ORDO:184/ntbt", source="Orphanet:184", source="ORDO:184/inclusion"}
xref: ICD10:M27.8 {source="DOID:1856"}
xref: ICD9:526.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10070535 {source="ORDO:184/e", source="Orphanet:184"}
xref: MESH:D002636 {source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856", source="MONDO:ontobio"}
xref: NCIT:C84630 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1856"}
xref: OMIM:118400 {source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856"}
xref: Orphanet:184 {source="OMIM:118400", source="MONDO:equivalentTo"}
xref: SCTID:76098004 {source="MONDO:equivalentTo", source="DOID:1856", source="MONDO:kboom-pr-0.99/0.73/5.02"}
xref: UMLS:C0008029 {source="OMIM:118400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856", source="NCIT:C84630"}
is_a: MONDO:0000426 {source="DOID:1856", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="NCIT:C84630"} ! hereditary neoplastic syndrome
is_a: MONDO:0017369 {source="Orphanet:184"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017957 {source="Orphanet:184"} ! unclassified autoinflammatory syndrome
is_a: MONDO:0019708 {source="Orphanet:184"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0020014 {source="Orphanet:184"} ! rare disease with odontological manifestation
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:184"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/53432004
property_value: exactMatch DOID:1856
property_value: exactMatch http://identifiers.org/meddra/10070535
property_value: exactMatch http://identifiers.org/mesh/D002636
property_value: exactMatch http://identifiers.org/omim/118400
property_value: exactMatch http://identifiers.org/snomedct/76098004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008029
property_value: exactMatch NCIT:C84630
property_value: exactMatch Orphanet:184
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6036/cherubism xsd:anyURI {source="GARD:0006036"}

[Term]
id: MONDO:0007316
name: Chiari malformation type I
def: "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." [Orphanet:268882]
subset: ordo_morphological_anomaly {source="Orphanet:268882"}
synonym: "Arnold-Chiari malformation type 1" EXACT [Orphanet:268882]
synonym: "Arnold-Chiari malformation type I" EXACT [Orphanet:268882]
synonym: "Chiari malformation type 1" EXACT [Orphanet:268882]
synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420]
synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882]
synonym: "Cm1" RELATED [OMIM:118420]
synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420]
xref: ICD10:G95.0 {source="Orphanet:268882", source="ORDO:268882/attributed", source="ORDO:268882/ntbt"}
xref: MedDRA:10056944 {source="Orphanet:268882", source="ORDO:268882/e"}
xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="ORDO:268882/e"}
xref: Orphanet:268882 {source="OMIM:118420", source="MONDO:equivalentTo"}
xref: SCTID:253185002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000115 {source="DC-OMIM:118420", source="linkedlifedata"} ! Chiari malformation
is_a: MONDO:0017085 {source="Orphanet:268882"} ! malformation of the neurenteric canal, spinal cord and column
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861647
property_value: exactMatch http://identifiers.org/meddra/10056944
property_value: exactMatch http://identifiers.org/omim/118420
property_value: exactMatch http://identifiers.org/snomedct/253185002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750929
property_value: exactMatch Orphanet:268882

[Term]
id: MONDO:0007317
name: chlorpropamide-alcohol flushing
synonym: "chlorpropamide-alcohol flushing" EXACT [MONDO:Lexical, OMIM:118430]
synonym: "CHLORPROPAMIDE-alcohol flushing; CPAF" RELATED [OMIM:118430]
synonym: "CPAF" RELATED [MONDO:Lexical, OMIM:118430]
xref: OMIM:118430 {source="MONDO:equivalentTo"}
xref: UMLS:C1861630 {source="OMIM:118430", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/118430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861630

[Term]
id: MONDO:0007318
name: Alagille syndrome
def: "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." [Orphanet:52]
subset: ordo_malformation_syndrome {source="Orphanet:52"}
synonym: "Alagille syndrome" EXACT [OMIM:118450]
synonym: "Alagille-Watson syndrome" EXACT [CSP2005:5005-0002, DOID:9245, Orphanet:52]
synonym: "Arteriohepatic dysplasia" EXACT [Orphanet:52]
synonym: "Cardiovertebral syndrome" RELATED [GARD:0000804]
synonym: "hepatic ductular hypoplasia" RELATED [GARD:0000804]
synonym: "Hepatofacioneurocardiovertebral syndrome" RELATED [GARD:0000804]
synonym: "paucity of interlobular bile ducts" RELATED [GARD:0000804]
synonym: "syndromic bile duct paucity" EXACT [Orphanet:52]
synonym: "Watson Alagille syndrome" RELATED [GARD:0000804]
synonym: "Watson-Miller syndrome" RELATED [GARD:0000804]
xref: DOID:9245 {source="MONDO:equivalentTo"}
xref: GARD:0000804 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q44.7 {source="ORDO:52/inclusion", source="DOID:9245", source="ORDO:52/ntbt", source="Orphanet:52"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053870 {source="Orphanet:52", source="ORDO:52/e"}
xref: MESH:D016738 {source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52", source="ORDO:52/e"}
xref: NCIT:C35139 {source="MONDO:equivalentTo", source="DOID:9245", source="MONDO:kboom-pr-0.91/0.70/1.14"}
xref: OMIMPS:118450 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:52 {source="MONDO:equivalentTo", source="OMIM:118450"}
xref: SCTID:31742004 {source="MONDO:equivalentTo", source="DOID:9245", source="MONDO:kboom-pr-0.94/0.75/1.57"}
xref: UMLS:C0085280 {source="MONDO:equivalentTo", source="NCIT:C35139", source="DOID:9245", source="Orphanet:52", source="OMIM:118450", source="ORDO:52/e"}
is_a: MONDO:0015214 {source="Orphanet:52"} ! syndromic visceral malformation
is_a: MONDO:0015218 {source="Orphanet:52"} ! syndromic developmental defect of the eye
is_a: MONDO:0015506 {source="Orphanet:52"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:52"} ! genetic biliary tract disease
is_a: MONDO:0015945 {source="Orphanet:52"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019721 {source="Orphanet:52"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020222 {source="Orphanet:52"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:52"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:9245
property_value: exactMatch http://identifiers.org/meddra/10053870
property_value: exactMatch http://identifiers.org/mesh/D016738
property_value: exactMatch http://identifiers.org/snomedct/31742004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085280
property_value: exactMatch NCIT:C35139
property_value: exactMatch Orphanet:52

[Term]
id: MONDO:0007319
name: familial calcium pyrophosphate deposition
def: "Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." [Orphanet:1416]
subset: ordo_disease {source="Orphanet:1416"}
synonym: "calcium gout" RELATED [OMIM:118600]
synonym: "calcium gout, familial" RELATED [GARD:0001292]
synonym: "calcium pyrophosphate arthropathy" RELATED [OMIM:118600]
synonym: "calcium pyrophosphate arthropathy, familial" RELATED [GARD:0001292]
synonym: "calcium pyrophosphate dihydrate crystal deposition disease" EXACT [Orphanet:1416]
synonym: "calcium pyrophosphate dihydrate deposition disease" RELATED [OMIM:118600]
synonym: "CCAL2" RELATED [MONDO:Lexical, OMIM:118600]
synonym: "chondrocalcinosis 2" RELATED [MONDO:Lexical, OMIM:118600]
synonym: "chondrocalcinosis 2; CCAL2" RELATED [OMIM:118600]
synonym: "chondrocalcinosis familial articular" RELATED [GARD:0001292]
synonym: "chondrocalcinosis type 2" EXACT [MONDORULE:1, OMIM:118600]
synonym: "chondrocalcinosis, familial articular" RELATED [OMIM:118600]
synonym: "CPPDD" RELATED [GARD:0001292]
synonym: "familial articular chondrocalcinosis" EXACT [Orphanet:1416]
synonym: "familial calcium pyrophosphate dihydrate deposition disease" RELATED [GARD:0001292]
synonym: "familial CC" EXACT [Orphanet:1416]
synonym: "familial CPPD" EXACT [Orphanet:1416]
synonym: "hereditary articular chondrocalcinosis" EXACT [Orphanet:1416]
synonym: "hereditary calcium pyrophosphate deposition" EXACT [Orphanet:1416]
synonym: "hereditary CC" EXACT [Orphanet:1416]
synonym: "Pseudogout, familial" RELATED [GARD:0001292]
xref: GARD:0001292 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M11.1 {source="ORDO:1416/e", source="Orphanet:1416", source="ORDO:1416/specific"}
xref: MESH:C563162 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118600 {source="MONDO:equivalentTo", source="ORDO:1416/e", source="Orphanet:1416"}
xref: Orphanet:1416 {source="OMIM:118600", source="MONDO:equivalentTo"}
xref: UMLS:CN199517 {source="MONDO:equivalentTo"}
is_a: MONDO:0001314 {source="DC-OMIM:118600", source="MESH:C563162"} ! chondrocalcinosis
is_a: MONDO:0017133 {source="Orphanet:1416"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0553730
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0856830
property_value: exactMatch http://identifiers.org/mesh/C563162
property_value: exactMatch http://identifiers.org/omim/118600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199517
property_value: exactMatch Orphanet:1416

[Term]
id: MONDO:0007320
name: chondrocalcinosis due to apatite crystal deposition
subset: gard_rare {source="GARD:0010139"}
synonym: "chondrocalcinosis due to apatite crystal deposition" EXACT [OMIM:118610]
synonym: "familial apatite disease" RELATED [OMIM:118610]
xref: GARD:0010139 {source="MONDO:equivalentTo"}
xref: MESH:C535939 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118610 {source="MONDO:equivalentTo"}
xref: UMLS:C1861580 {source="NCBI:mim2gene_medline", source="OMIM:118610", source="MONDO:equivalentTo"}
is_a: MONDO:0001314 {source="DC-OMIM:118610", source="MESH:C535939"} ! chondrocalcinosis
property_value: exactMatch http://identifiers.org/mesh/C535939
property_value: exactMatch http://identifiers.org/omim/118610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861580
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition xsd:anyURI {source="GARD:0010139"}

[Term]
id: MONDO:0007321
name: autosomal dominant chondrodysplasia punctata
alt_id: MONDO:0022728
def: "Autosomal dominant form of chondrodysplasia punctata." [MONDO:patterns/autosomal_dominant]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:79344"}
synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [OMIM:118650]
synonym: "chondrodysplasia punctata due to warfarin Teratogenicity" RELATED [OMIM:118650]
synonym: "chondrodysplasia punctata Sheffield type" EXACT []
synonym: "chondrodysplasia punctata, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:118650]
synonym: "chondrodysplasia punctata, Sheffield type" EXACT [Orphanet:79344]
xref: DOID:0060293 {source="MONDO:equivalentTo"}
xref: GARD:0001298 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:79344/attributed", source="ORDO:79344/ntbt", source="DOID:0060293", source="Orphanet:79344"}
xref: MESH:C563248 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118650 {source="MONDO:equivalentTo", source="ORDO:79344/e", source="DOID:0060293", source="Orphanet:79344"}
xref: Orphanet:79344 {source="GARD:0001298", source="OMIM:118650", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:0060293"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease
is_a: MONDO:0015775 {source="Orphanet:79344"} ! non-rhizomelic chondrodysplasia punctata
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1442935
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861578
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861579
property_value: exactMatch DOID:0060293
property_value: exactMatch http://identifiers.org/mesh/C563248
property_value: exactMatch http://identifiers.org/omim/118650
property_value: exactMatch Orphanet:79344
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type xsd:anyURI {source="GARD:0001298"}

[Term]
id: MONDO:0007322
name: chondrodysplasia punctata, tibial-metacarpal type
subset: ordo_malformation_syndrome {source="Orphanet:79346"}
synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651]
synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651]
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:79346/attributed", source="ORDO:79346/ntbt", source="Orphanet:79346"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562961 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118651 {source="MONDO:equivalentTo", source="ORDO:79346/e", source="Orphanet:79346"}
xref: Orphanet:79346 {source="OMIM:118651", source="MONDO:equivalentTo"}
xref: SCTID:254083002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0007321 ! autosomal dominant chondrodysplasia punctata
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432224
property_value: exactMatch http://identifiers.org/mesh/C562961
property_value: exactMatch http://identifiers.org/omim/118651
property_value: exactMatch http://identifiers.org/snomedct/254083002
property_value: exactMatch Orphanet:79346

[Term]
id: MONDO:0007323
name: Chondronectin
synonym: "Chondronectin" EXACT [OMIM:118670]
xref: OMIM:118670 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0055595
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887693
property_value: exactMatch http://identifiers.org/omim/118670

[Term]
id: MONDO:0007324
name: obsolete chorea
is_obsolete: true
replaced_by: MONDO:0001595

[Term]
id: MONDO:0007325
name: choreoathetosis, familial inverted
synonym: "choreoathetosis, familial inverted" EXACT [OMIM:118750]
synonym: "infantile choreoathetosis of Fisher" RELATED [OMIM:118750]
xref: MESH:C566127 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118750 {source="MONDO:equivalentTo"}
xref: UMLS:C1861569 {source="OMIM:118750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001595 ! choreatic disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C566127
property_value: exactMatch http://identifiers.org/omim/118750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861569

[Term]
id: MONDO:0007326
name: paroxysmal nonkinesigenic dyskinesia 1
def: "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." [Orphanet:98810]
subset: ordo_disease {source="Orphanet:98810"}
synonym: "choreoathetosis, familial paroxysmal" RELATED [OMIM:118800]
synonym: "choreoathetosis, nonkinesigenic" RELATED [OMIM:118800]
synonym: "dystonia 8" RELATED [OMIM:118800]
synonym: "DYT-MR-1" RELATED [GARD:0008722]
synonym: "mount-reback syndrome" RELATED [OMIM:118800]
synonym: "paroxysmal dyskinesia caused by mutation in PNKD" EXACT [MONDO:design_pattern]
synonym: "paroxysmal dystonic choreoathetosis" RELATED [OMIM:118800]
synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810]
synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:118800]
synonym: "paroxysmal nonkinesigenic dyskinesia 1; PNKD1" RELATED [OMIM:118800]
synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [DOID:0090049, MONDORULE:1, OMIM:118800]
synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722]
synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810]
synonym: "PNKD paroxysmal dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PNKD1" RELATED [MONDO:Lexical, OMIM:118800]
synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155]
xref: DOID:0090049 {source="MONDO:equivalentTo"}
xref: GARD:0008722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.8 {source="Orphanet:98810", source="DOID:0090049", source="ORDO:98810/attributed", source="ORDO:98810/ntbt"}
xref: MedDRA:10065657 {source="ORDO:98810/e", source="Orphanet:98810"}
xref: MedDRA:10065658 {source="ORDO:98810/e", source="Orphanet:98810"}
xref: OMIM:118800 {source="ORDO:98810/e", source="Orphanet:98810", source="MONDO:equivalentTo", source="DOID:0090049"}
xref: Orphanet:98810 {source="MONDO:equivalentTo", source="OMIM:118800", source="DOID:0090049"}
is_a: MONDO:0015427 {source="MONDO:Redundant", source="Orphanet:98810"} ! paroxysmal dyskinesia
property_value: exactMatch DOID:0090049
property_value: exactMatch http://identifiers.org/meddra/10065657
property_value: exactMatch http://identifiers.org/meddra/10065658
property_value: exactMatch http://identifiers.org/mesh/C537181
property_value: exactMatch http://identifiers.org/omim/118800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1869117
property_value: exactMatch Orphanet:98810

[Term]
id: MONDO:0007327
name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
synonym: "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" EXACT [OMIM:118830]
synonym: "hyperlipoproteinemia, type 1C" RELATED [OMIM:118830]
xref: MESH:C566126 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118830 {source="MONDO:equivalentTo"}
xref: Orphanet:411 {source="MONDO:obsoleteEquivalent", source="OMIM:118830"}
xref: UMLS:C1861560 {source="NCBI:mim2gene_medline", source="OMIM:118830", source="MONDO:equivalentTo"}
is_a: MONDO:0018637 {source="ORDO:444490/btnt"} ! familial chylomicronemia syndrome
property_value: exactMatch http://identifiers.org/mesh/C566126
property_value: exactMatch http://identifiers.org/omim/118830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861560
property_value: exactMatch Orphanet:411

[Term]
id: MONDO:0007328
name: choroidal osteoma, bilateral
synonym: "choroidal osteoma, bilateral" EXACT [OMIM:118865]
xref: MESH:C566124 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118865 {source="MONDO:equivalentTo"}
xref: UMLS:C1861558 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118865"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566124
property_value: exactMatch http://identifiers.org/omim/118865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861558

[Term]
id: MONDO:0007329
name: cirrhosis, familial
def: "Cirrhosis in which no causative agent can be identified." [NCIT:C84411]
synonym: "cirrhosis, cryptogenic" RELATED [OMIM:215600]
synonym: "cirrhosis, familial" EXACT [OMIM:118900, OMIM:215600]
synonym: "cirrhosis, familial, with pulmonary hypertension" RELATED [OMIM:215600]
synonym: "cirrhosis, Noncryptogenic, susceptibility to" RELATED [OMIM:215600]
synonym: "copper toxicosis, idiopathic" RELATED [OMIM:215600]
synonym: "copper-overload cirrhosis" RELATED [OMIM:215600]
synonym: "cryptogenic cirrhosis" EXACT [NCIT:C84411]
synonym: "endemic Tyrolean infantile cirrhosis" RELATED [OMIM:215600]
synonym: "hereditary cirrhosis of liver" EXACT [MONDO:patterns/hereditary]
synonym: "Indian childhood cirrhosis" RELATED [OMIM:215600]
synonym: "Sen syndrome" RELATED [OMIM:215600]
xref: NCIT:C84411 {source="MONDO:equivalentTo"}
xref: OMIM:215600 {source="MONDO:equivalentTo"}
xref: SCTID:6183001 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! Mendelian disease
is_a: MONDO:0005155 {source="MONDO:Redundant", source="NCIT:C84411", source="linkedlifedata"} ! cirrhosis of liver
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
intersection_of: MONDO:0005155 ! cirrhosis of liver
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267809
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268074
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835713
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859088
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861556
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876164
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876165
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876166
property_value: exactMatch http://identifiers.org/omim/215600
property_value: exactMatch http://identifiers.org/snomedct/6183001
property_value: exactMatch NCIT:C84411

[Term]
id: MONDO:0007330
name: congenital pseudoarthrosis of clavicle
def: "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." [Orphanet:66630]
subset: ordo_disease {source="Orphanet:66630"}
synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980]
synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630]
synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630]
xref: ICD10:Q74.0 {source="ORDO:66630/inclusion", source="ORDO:66630/ntbt", source="Orphanet:66630"}
xref: MESH:C562548 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:118980 {source="MONDO:equivalentTo", source="ORDO:66630/e", source="Orphanet:66630"}
xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"}
xref: SCTID:70794004 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0018454 {source="Orphanet:66630"} ! dysostosis of genetic origin
property_value: exactMatch http://identifiers.org/mesh/C562548
property_value: exactMatch http://identifiers.org/omim/118980
property_value: exactMatch http://identifiers.org/snomedct/70794004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265565
property_value: exactMatch Orphanet:66630

[Term]
id: MONDO:0007331
name: cleft chin
comment: May be obsoleted. See https://github.com/monarch-initiative/hpo-annotation-data/pull/234
synonym: "Chin dimple" RELATED [OMIM:119000]
synonym: "cleft chin" EXACT [OMIM:119000]
xref: OMIM:119000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849227
property_value: exactMatch http://identifiers.org/omim/119000

[Term]
id: MONDO:0007332
name: SHFLD1
synonym: "aplasia of tibia with ectrodactyly" RELATED [MESH:C536425, OMIM:119100]
synonym: "cleft hand absent tibia" RELATED [MESH:C536425]
synonym: "cleft hand and absent tibia" RELATED [MESH:C536425, OMIM:119100]
synonym: "ectrodactyly with aplasia of long bones" RELATED [MESH:C536425, OMIM:119100]
synonym: "SHFLD" RELATED [MESH:C536425]
synonym: "SHFLD1" EXACT [MESH:C536425, MONDO:Lexical, OMIM:119100]
synonym: "split-hand-foot malformation with long bone deficiency" RELATED [MESH:C536425]
synonym: "split-hand/foot malformation with long bone deficiency" RELATED [MESH:C536425, OMIM:119100]
synonym: "split-hand/foot malformation with long bone deficiency 1" RELATED [MESH:C536425, MONDO:Lexical, OMIM:119100]
synonym: "split-hand/foot malformation with long bone deficiency 1; SHFLD1" RELATED [OMIM:119100]
synonym: "tibial aplasia with split-hand-split-foot deformity" RELATED [MESH:C536425]
synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [MESH:C536425, OMIM:119100]
xref: MESH:C536425 {source="MONDO:equivalentTo"}
xref: OMIM:119100 {source="MONDO:equivalentTo"}
is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861553
property_value: exactMatch http://identifiers.org/mesh/C536425
property_value: exactMatch http://identifiers.org/omim/119100

[Term]
id: MONDO:0007333
name: van der Woude syndrome 1
def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cleft lip and/or palate with mucous cysts of Lower lip" RELATED [OMIM:119300]
synonym: "IRF6 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lip-pit syndrome" RELATED [OMIM:119300]
synonym: "van der Woude syndrome 1" EXACT [MONDO:Lexical, OMIM:119300]
synonym: "VAN DER Woude syndrome 1; VWS1" RELATED [OMIM:119300]
synonym: "van der Woude syndrome caused by mutation in IRF6" EXACT [MONDO:design_pattern]
synonym: "Van Der Woude syndrome type 1" EXACT [MONDORULE:1, OMIM:119300]
synonym: "Vdws" RELATED [OMIM:119300]
synonym: "VWS1" RELATED [MONDO:Lexical, OMIM:119300]
xref: OMIM:119300 {source="MONDO:equivalentTo"}
is_a: MONDO:0019508 {source="DC-OMIM:119300", source="MONDO:Redundant", source="MONDOLEX:0007333"} ! van der Woude syndrome
property_value: exactMatch http://identifiers.org/omim/119300

[Term]
id: MONDO:0007334
name: autosomal dominant popliteal pterygium syndrome
def: "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." [Orphanet:1300]
comment: Editor note: check logical definition
subset: ordo_malformation_syndrome {source="Orphanet:1300"}
synonym: "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies" RELATED [GARD:0003242]
synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [OMIM:119500]
synonym: "facio-genito-popliteal syndrome" EXACT [Orphanet:1300]
synonym: "faciogenitopopliteal syndrome" RELATED [OMIM:119500]
synonym: "popliteal pterygium syndrome" RELATED [MONDO:Lexical, OMIM:119500]
synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "popliteal pterygium syndrome; PPS" RELATED [OMIM:119500]
synonym: "popliteal web syndrome" EXACT [Orphanet:1300]
synonym: "PPS" RELATED [MONDO:Lexical, OMIM:119500]
xref: GARD:0003242 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1300", source="ORDO:1300/attributed", source="ORDO:1300/ntbt"}
xref: OMIM:119500 {source="ORDO:1300/e", source="Orphanet:1300", source="MONDO:equivalentTo"}
xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"}
xref: SCTID:718222000 {source="MONDO:equivalentTo"}
xref: UMLS:CN199177 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015218 {source="Orphanet:1300"} ! syndromic developmental defect of the eye
is_a: MONDO:0017435 {source="DC-OMIM:119500", source="MONDO:Redundant", source="Orphanet:1300"} ! popliteal pterygium syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020156 {source="Orphanet:1300"} ! syndromic ankyloblepharon
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1300"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/119500
property_value: exactMatch http://identifiers.org/snomedct/718222000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199177
property_value: exactMatch Orphanet:1300

[Term]
id: MONDO:0007335
name: orofacial cleft 1
def: "Cleft lip with or without cleft palate mapped to chromosome 6p24." [NCIT:C124838]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 1" RELATED [OMIM:119530]
synonym: "cleft Lip/palate, nonsyndromic" RELATED [OMIM:119530]
synonym: "OFC1" EXACT [MONDO:Lexical, OMIM:119530]
synonym: "orofacial cleft 1" EXACT [MONDO:Lexical, OMIM:119530]
synonym: "orofacial cleft 1; OFC1" RELATED [OMIM:119530]
synonym: "orofacial cleft, nonsyndromic" RELATED [OMIM:119530]
xref: MESH:C566121 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C124838 {source="MONDO:equivalentTo"}
xref: OMIM:119530 {source="MONDO:equivalentTo"}
xref: UMLS:C1861537 {source="OMIM:119530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:119530"} ! orofacial cleft
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/mesh/C566121
property_value: exactMatch http://identifiers.org/omim/119530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861537
property_value: exactMatch NCIT:C124838

[Term]
id: MONDO:0007336
name: isolated cleft palate
def: "A cleft palate that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare
synonym: "cleft palate" RELATED [OMIM:119540]
synonym: "cleft palate, isolated" RELATED [MONDO:Lexical, OMIM:119540]
synonym: "cleft palate, isolated; CPI" RELATED [OMIM:119540]
synonym: "CPI" RELATED [MONDO:Lexical, OMIM:119540]
synonym: "dominant cleft palate" RELATED [GARD:0001896]
synonym: "nonsyndromic cleft palate" EXACT [MONDO:patterns/isolated]
xref: DOID:0110213 {source="MONDO:equivalentTo"}
xref: GARD:0001896 {source="MONDO:equivalentTo"}
xref: ICD10:Q35.1 {source="MONDO:directSiblingOf", source="DOID:0110213"}
xref: ICD10:Q35.3 {source="MONDO:directSiblingOf", source="DOID:0110213"}
xref: ICD10:Q35.5 {source="DOID:0110213"}
xref: ICD10:Q35.7 {source="DOID:0110213"}
xref: ICD10:Q35.9 {source="DOID:0110213"}
xref: OMIM:119540 {source="GARD:0001896", source="MONDO:equivalentTo", source="DOID:0110213"}
xref: UMLS:CN234898 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016064 {source="DOID:0110213", source="MONDO:Entailed", source="MONDO:Redundant"} ! cleft palate
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0016064 ! cleft palate
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837218
property_value: exactMatch DOID:0110213
property_value: exactMatch http://identifiers.org/omim/119540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN234898
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate xsd:anyURI {source="GARD:0001896"}

[Term]
id: MONDO:0007337
name: cleft palate-lateral synechia syndrome
def: "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." [Orphanet:2016]
subset: gard_rare {source="GARD:0001391"}
subset: ordo_malformation_syndrome {source="Orphanet:2016"}
synonym: "cleft palate lateral synechia syndrome" RELATED [GARD:0001391]
synonym: "cleft palate-lateral synechia syndrome" EXACT [OMIM:119550]
synonym: "CPLS syndrome" EXACT [Orphanet:2016]
synonym: "Cpls syndrome" RELATED [OMIM:119550]
synonym: "syngnathia" RELATED [OMIM:119550]
xref: DOID:0080313 {source="MONDO:equivalentTo"}
xref: GARD:0001391 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2016", source="ORDO:2016/attributed", source="ORDO:2016/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563047 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:119550 {source="Orphanet:2016", source="ORDO:2016/e", source="MONDO:equivalentTo"}
xref: Orphanet:2016 {source="MONDO:equivalentTo", source="OMIM:119550"}
xref: SCTID:403772000 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"}
xref: UMLS:C0795898 {source="Orphanet:2016", source="NCBI:mim2gene_medline", source="ORDO:2016/e", source="MONDO:equivalentTo", source="OMIM:119550"}
is_a: MONDO:0015335 {source="Orphanet:2016"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2016"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0080313
property_value: exactMatch http://identifiers.org/mesh/C563047
property_value: exactMatch http://identifiers.org/omim/119550
property_value: exactMatch http://identifiers.org/snomedct/403772000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795898
property_value: exactMatch Orphanet:2016
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome xsd:anyURI {source="GARD:0001391"}

[Term]
id: MONDO:0007338
name: cleft soft palate
def: "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." [Orphanet:99772]
subset: ordo_morphological_anomaly {source="Orphanet:99772"}
synonym: "cleft soft palate" EXACT [OMIM:119570, Orphanet:99772]
synonym: "cleft velum" EXACT [DOID:0110214]
synonym: "cleft velum palatinum" EXACT [DOID:0110214, Orphanet:99772]
synonym: "soft cleft palate" EXACT [DOID:0110214]
xref: DOID:0110214 {source="MONDO:equivalentTo"}
xref: ICD10:Q35.3 {source="DOID:0110214", source="MONDO:equivalentTo", source="ORDO:99772/e", source="Orphanet:99772"}
xref: MESH:C562950 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:119570 {source="DOID:0110214", source="ORDO:99772/btnt", source="MONDO:equivalentTo", source="Orphanet:99772"}
xref: Orphanet:99772 {source="DOID:0110214", source="MONDO:equivalentTo", source="OMIM:119570"}
xref: SCTID:253997002 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0016064 {source="DC-OMIM:119570", source="DOID:0110214", source="MESH:C562950", source="Orphanet:99772"} ! cleft palate
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432098
property_value: exactMatch DOID:0110214
property_value: exactMatch http://identifiers.org/mesh/C562950
property_value: exactMatch http://identifiers.org/omim/119570
property_value: exactMatch http://identifiers.org/snomedct/253997002
property_value: exactMatch Orphanet:99772

[Term]
id: MONDO:0007339
name: blepharo-cheilo-odontic syndrome
def: "Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." [Orphanet:1997]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1997"}
subset: prototype_pattern
synonym: "BCD syndrome" EXACT [Orphanet:1997]
synonym: "BCDS" RELATED [MONDO:Lexical, OMIM:119580]
synonym: "BCDS1" RELATED [OMIM:119580]
synonym: "blepharo-cheilo-dontic syndrome" RELATED [GARD:0002071]
synonym: "blepharo-cheilo-odontic syndrome" EXACT [DOID:0080344]
synonym: "blepharocheilodontic syndrome" EXACT [GARD:0002071, MONDO:Lexical, OMIM:119580, Orphanet:1997]
synonym: "blepharocheilodontic syndrome 1" RELATED [OMIM:119580]
synonym: "blepharocheilodontic syndrome 1; BCDS1" RELATED [OMIM:119580]
synonym: "blepharocheilodontic syndrome; BCDS" RELATED [OMIM:119580]
synonym: "clefting, ectropion, and conical teeth" RELATED [GARD:0002071, OMIM:119580]
synonym: "clefting-ectropion-conical teeth syndrome" EXACT [Orphanet:1997]
synonym: "ectropion inferior cleft lip and or palate" RELATED [GARD:0002071]
synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [Orphanet:1997]
synonym: "ectropion inferior-cleft lip and/or palate syndrome" EXACT [Orphanet:1997]
synonym: "ectropion, inferior, with cleft lip and/or palate" RELATED [OMIM:119580]
synonym: "Elsching syndrome" EXACT [Orphanet:1997]
synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580]
synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580]
synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997]
xref: DOID:0080344 {source="MONDO:equivalentTo"}
xref: GARD:0002071 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1997/attributed", source="ORDO:1997/ntbt", source="Orphanet:1997"}
xref: MESH:C536188 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:119580 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080344"}
xref: Orphanet:1997 {source="MONDO:equivalentTo", source="GARD:0002071", source="OMIM:119580"}
xref: SCTID:717911008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
xref: UMLS:C1861536 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1997/e", source="GARD:0002071", source="Orphanet:1997", source="OMIM:119580"}
is_a: MONDO:0000426 {source="DOID:0080344"} ! autosomal dominant disease
is_a: MONDO:0015335 {source="Orphanet:1997"} ! orofacial clefting syndrome
is_a: MONDO:0015336 {source="Orphanet:1997"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019287 {source="Orphanet:1997", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020161 {source="Orphanet:1997"} ! congenital ectropion
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1997"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0080344
property_value: exactMatch http://identifiers.org/mesh/C536188
property_value: exactMatch http://identifiers.org/omim/119580
property_value: exactMatch http://identifiers.org/snomedct/717911008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861536
property_value: exactMatch Orphanet:1997
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate xsd:anyURI {source="GARD:0002071"}

[Term]
id: MONDO:0007340
name: cleidocranial dysplasia
def: "Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." [https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia]
subset: ordo_malformation_syndrome {source="Orphanet:1452"}
synonym: "CCD" RELATED [MONDO:Lexical, OMIM:119600]
synonym: "CLCD" RELATED [GARD:0006118]
synonym: "cleidocranial dysostosis" EXACT [DOID:13994, OMIM:119600, Orphanet:1452]
synonym: "cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:119600]
synonym: "cleidocranial dysplasia, forme fruste, dental anomalies only" RELATED [OMIM:119600]
synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [OMIM:119600]
synonym: "cleidocranial dysplasia; CCD" RELATED [OMIM:119600]
synonym: "dysplasia cleidocranial" RELATED [GARD:0006118]
synonym: "Marie-Sainton disease" EXACT [DOID:13994]
xref: DOID:13994 {source="MONDO:equivalentTo"}
xref: GARD:0006118 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.0 {source="Orphanet:1452", source="ORDO:1452/inclusion", source="ORDO:1452/ntbt", source="DOID:13994"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002973 {source="ORDO:1452/e", source="Orphanet:1452", source="MONDO:equivalentTo", source="DOID:13994"}
xref: NCIT:C75020 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:13994"}
xref: OMIM:119600 {source="ORDO:1452/e", source="Orphanet:1452", source="MONDO:equivalentTo", source="DOID:13994"}
xref: Orphanet:1452 {source="OMIM:119600", source="MONDO:equivalentTo", source="DOID:13994"}
xref: SCTID:65976001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13994"}
xref: UMLS:C0008928 {source="ORDO:1452/e", source="Orphanet:1452", source="NCBI:mim2gene_medline", source="OMIM:119600", source="MONDO:equivalentTo", source="NCIT:C75020", source="DOID:13994"}
is_a: MONDO:0002254 {source="NCIT:C75020"} ! syndromic disease
is_a: MONDO:0005516 {source="DOID:13994", source="MESH:D002973"} ! osteochondrodysplasia
is_a: MONDO:0019709 {source="Orphanet:1452"} ! cleidocranial dysplasia and isolated cranial ossification defect
is_a: MONDO:0020014 {source="Orphanet:1452"} ! rare disease with odontological manifestation
is_a: MONDO:0020018 {source="Orphanet:1452"} ! cranial malformation
property_value: closeMatch http://identifiers.org/snomedct/240193006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838416
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861516
property_value: exactMatch DOID:13994
property_value: exactMatch http://identifiers.org/mesh/D002973
property_value: exactMatch http://identifiers.org/omim/119600
property_value: exactMatch http://identifiers.org/snomedct/65976001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008928
property_value: exactMatch NCIT:C75020
property_value: exactMatch Orphanet:1452

[Term]
id: MONDO:0007341
name: cleidorhizomelic syndrome
def: "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." [Orphanet:1453]
subset: gard_rare {source="GARD:0005532"}
subset: ordo_malformation_syndrome {source="Orphanet:1453"}
synonym: "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle" RELATED [GARD:0005532]
synonym: "cleido rhizomelic syndrome" RELATED [GARD:0005532]
synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650]
synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453]
synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532]
synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453]
xref: GARD:0005532 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:1453", source="ORDO:1453/attributed", source="ORDO:1453/ntbt"}
xref: MESH:C536428 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:119650 {source="Orphanet:1453", source="ORDO:1453/e", source="MONDO:equivalentTo"}
xref: Orphanet:1453 {source="MONDO:equivalentTo", source="OMIM:119650"}
xref: SCTID:719471002 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
xref: UMLS:C1861515 {source="Orphanet:1453", source="ORDO:1453/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:119650"}
is_a: MONDO:0019697 {source="Orphanet:1453"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536428
property_value: exactMatch http://identifiers.org/omim/119650
property_value: exactMatch http://identifiers.org/snomedct/719471002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861515
property_value: exactMatch Orphanet:1453
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome xsd:anyURI {source="GARD:0005532"}

[Term]
id: MONDO:0007342
name: clubfoot
def: "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." [NCIT:P378]
synonym: "CCF" RELATED [MONDO:Lexical, OMIM:119800]
synonym: "club foot" EXACT [NCIT:C84641]
synonym: "clubbed foot" EXACT [NCIT:C84641]
synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" RELATED [MONDO:Lexical, OMIM:119800]
synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly; CCF" RELATED [OMIM:119800]
synonym: "congenital clubfoot" EXACT [DOID:11836]
synonym: "congenital equinovarus" EXACT [DOID:11836, MTHICD9_2006:754.51]
synonym: "congenital talipes equinovarus" EXACT [DOID:11836]
synonym: "equinovarus deformity of foot" EXACT [DOID:11836]
synonym: "equinovarus deformity of foot (finding)" EXACT [DOID:11836]
synonym: "talipes" EXACT [NCIT:C84641]
synonym: "talipes equinovarus" EXACT [NCIT:C84641]
xref: DOID:11836 {source="MONDO:equivalentTo"}
xref: ICD10:Q66.0 {source="DOID:11836"}
xref: ICD10:Q66.89 {source="DOID:11836"}
xref: ICD9:754.51 {source="MONDO:equivalentTo", source="DOID:11836", source="i2s"}
xref: MESH:D003025 {source="MONDO:equivalentTo", source="DOID:11836", source="MONDO:ontobio"}
xref: NCIT:C84641 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:11836"}
xref: OMIM:119800 {source="MONDO:equivalentTo", source="DOID:11836"}
xref: SCTID:397932003 {source="MONDO:equivalentTo", source="DOID:11836", source="MONDO:kboom-pr-1.00/0.80/8.85"}
is_a: MONDO:0016046 {source="ORDO:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies
property_value: closeMatch http://identifiers.org/snomedct/15169008
property_value: closeMatch http://identifiers.org/snomedct/156985005
property_value: closeMatch http://identifiers.org/snomedct/156987002
property_value: closeMatch http://identifiers.org/snomedct/205089003
property_value: closeMatch http://identifiers.org/snomedct/249808002
property_value: closeMatch http://identifiers.org/snomedct/253957000
property_value: closeMatch http://identifiers.org/snomedct/268340009
property_value: closeMatch http://identifiers.org/snomedct/268341008
property_value: closeMatch http://identifiers.org/snomedct/33163000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009081
property_value: exactMatch DOID:11836
property_value: exactMatch http://identifiers.org/mesh/D003025
property_value: exactMatch http://identifiers.org/omim/119800
property_value: exactMatch http://identifiers.org/snomedct/397932003
property_value: exactMatch NCIT:C84641

[Term]
id: MONDO:0007343
name: isolated congenital digital clubbing
def: "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." [Orphanet:217059]
subset: ordo_morphological_anomaly {source="Orphanet:217059"}
synonym: "acropachy, hereditary" RELATED [OMIM:119900]
synonym: "clubbing of digits" RELATED [OMIM:119900]
synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900]
synonym: "isolated congenital acropachy" EXACT [Orphanet:217059]
synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059]
xref: ICD10:Q68.1 {source="ORDO:217059/inclusion", source="ORDO:217059/ntbt", source="Orphanet:217059"}
xref: OMIM:119900 {source="MONDO:equivalentTo", source="ORDO:217059/e", source="Orphanet:217059"}
xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"}
is_a: MONDO:0017429 {source="Orphanet:217059"} ! joint formation defects
is_a: MONDO:0019284 {source="Orphanet:217059"} ! inherited isolated nail anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345408
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861514
property_value: exactMatch http://identifiers.org/omim/119900
property_value: exactMatch Orphanet:217059

[Term]
id: MONDO:0007344
name: cluster headache, familial
def: "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "cluster headache, familial" EXACT [OMIM:119915]
synonym: "hereditary cluster headache syndrome" EXACT [MONDO:patterns/hereditary]
xref: MESH:C566117 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:119915 {source="MONDO:equivalentTo"}
xref: UMLS:C1861513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:119915"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043537 ! cluster headache syndrome
intersection_of: MONDO:0043537 ! cluster headache syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch Orphanet:1002
property_value: exactMatch http://identifiers.org/mesh/C566117
property_value: exactMatch http://identifiers.org/omim/119915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861513

[Term]
id: MONDO:0007345
name: aorta coarctation
def: "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." [NCIT:C84567]
subset: ordo_morphological_anomaly {source="Orphanet:1457"}
synonym: "aortic coarctation" EXACT [NCIT:C84567]
synonym: "coarctation of aorta" RELATED [OMIM:120000]
synonym: "coarctation of the aorta" RELATED [GARD:0005828]
xref: COHD:321119 {source="MONDO:equivalentTo"}
xref: EFO:1001267 {source="MONDO:equivalentTo"}
xref: GARD:0005828 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e"}
xref: ICD9:747.10 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10009807 {source="Orphanet:1457", source="ORDO:1457/e"}
xref: MESH:D001017 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e", source="MONDO:ontobio"}
xref: NCIT:C84567 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/8.83"}
xref: OMIM:120000 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e"}
xref: Orphanet:1457 {source="MONDO:equivalentTo", source="OMIM:120000"}
xref: SCTID:7305005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/7.01"}
xref: UMLS:C0003492 {source="NCIT:C84567", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e", source="OMIM:120000"}
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0020286 {source="Orphanet:1457"} ! aortic malformation
property_value: exactMatch http://identifiers.org/meddra/10009807
property_value: exactMatch http://identifiers.org/mesh/C531623
property_value: exactMatch http://identifiers.org/mesh/D001017
property_value: exactMatch http://identifiers.org/omim/120000
property_value: exactMatch http://identifiers.org/snomedct/7305005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003492
property_value: exactMatch NCIT:C84567
property_value: exactMatch Orphanet:1457

[Term]
id: MONDO:0007346
name: cochleosaccular degeneration-cataract syndrome
def: "Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." [Orphanet:3233]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3233"}
synonym: "Cochleosaccular Degeneration" RELATED [MESH:C536432]
synonym: "Cochleosaccular degeneration of the inner ear and progressive cataracts" RELATED [GARD:0009418]
synonym: "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" RELATED [MESH:C536432]
synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040]
xref: GARD:0009418 {source="MONDO:equivalentTo"}
xref: MESH:C536432 {source="MONDO:equivalentTo"}
xref: OMIM:120040 {source="Orphanet:3233", source="ORDO:3233/e", source="GARD:0009418", source="MONDO:equivalentTo"}
xref: Orphanet:3233 {source="OMIM:120040", source="MONDO:equivalentTo"}
xref: SCTID:715528001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861512 {source="GARD:0009418", source="NCBI:mim2gene_medline", source="OMIM:120040", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:3233"} ! syndromic genetic deafness
is_a: MONDO:0020225 {source="Orphanet:3233"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C536432
property_value: exactMatch http://identifiers.org/omim/120040
property_value: exactMatch http://identifiers.org/snomedct/715528001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861512
property_value: exactMatch Orphanet:3233
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts xsd:anyURI {source="GARD:0009418"}

[Term]
id: MONDO:0007347
name: CXB3S
subset: predisposition
synonym: "Cb3S" RELATED [OMIM:120050]
synonym: "COXSACKIEVIRUS B3 susceptibility" RELATED [MONDO:Lexical, OMIM:120050]
synonym: "COXSACKIEVIRUS B3 susceptibility; CXB3S" RELATED [OMIM:120050]
synonym: "CXB3S" EXACT [MONDO:Lexical, OMIM:120050]
xref: OMIM:120050 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861511
property_value: exactMatch http://identifiers.org/omim/120050

[Term]
id: MONDO:0007348
name: obsolete colchicine resistance
synonym: "colchicine resistance" EXACT [OMIM:120080]
synonym: "colchicine sensitivity" RELATED [OMIM:120080]
xref: OMIM:120080 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1861502 {source="OMIM:120080", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline"}
property_value: exactMatch http://identifiers.org/omim/120080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861502
is_obsolete: true

[Term]
id: MONDO:0007349
name: familial cold autoinflammatory syndrome 1
def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cold hypersensitivity" RELATED [OMIM:120100]
synonym: "cold urticaria, familial" RELATED [OMIM:120100]
synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100]
synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [OMIM:120100]
synonym: "familial cold autoinflammatory syndrome 1" EXACT [MONDO:Lexical, OMIM:120100]
synonym: "familial cold autoinflammatory syndrome 1; FCAS1" RELATED [OMIM:120100]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP3" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 1" EXACT [DOID:0090062, MONDORULE:1, OMIM:120100]
synonym: "Fcas" RELATED [OMIM:120100]
synonym: "FCAS1" RELATED [MONDO:Lexical, OMIM:120100]
synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090062 {source="MONDO:equivalentTo"}
xref: ICD10:L50.2 {source="DOID:0090062"}
xref: OMIM:120100 {source="DOID:0090062", source="MONDO:equivalentTo"}
xref: SCTID:238687000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0018768 {source="DC-OMIM:120100", source="DOID:0090062", source="MONDO:Redundant", source="OMIM:120100"} ! familial cold autoinflammatory syndrome
property_value: exactMatch DOID:0090062
property_value: exactMatch http://identifiers.org/omim/120100
property_value: exactMatch http://identifiers.org/snomedct/238687000

[Term]
id: MONDO:0007350
name: coloboma, ocular, autosomal dominant
synonym: "coloboma of iris, choroid, and retina" RELATED [OMIM:120200]
synonym: "coloboma, ocular, autosomal dominant" EXACT [OMIM:120200]
synonym: "coloboma, Uveoretinal" RELATED [OMIM:120200]
xref: OMIM:120200 {source="MONDO:equivalentTo"}
is_a: MONDO:0016023 {source="ORDO:194/btnt"} ! ocular coloboma
property_value: exactMatch http://identifiers.org/omim/120200

[Term]
id: MONDO:0007351
name: coloboma of macula
def: "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." [Orphanet:98945]
subset: ordo_morphological_anomaly {source="Orphanet:98945"}
synonym: "agenesis of macula" RELATED [OMIM:120300]
synonym: "coloboma of macula" EXACT [OMIM:120300]
synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436]
synonym: "macular coloboma" RELATED [GARD:0001436]
xref: GARD:0001436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q14.8 {source="ORDO:98945/attributed", source="ORDO:98945/ntbt", source="Orphanet:98945"}
xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="ORDO:98945/w"}
xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016023 {source="Orphanet:98945"} ! ocular coloboma
is_a: MONDO:0020243 {source="Orphanet:98945"} ! colobomatous and areolar dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852767
property_value: exactMatch http://identifiers.org/omim/120300
property_value: exactMatch Orphanet:98945

[Term]
id: MONDO:0007352
name: renal coloboma syndrome
def: "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." [Orphanet:1475]
subset: gard_rare {source="GARD:0004106"}
subset: ordo_malformation_syndrome {source="Orphanet:1475"}
synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006]
synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, Orphanet:1475]
synonym: "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT [DOID:0090006, OMIM:120330]
synonym: "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT [DOID:0090006]
synonym: "optic coloboma, vesicoureteral reflux, and renal anomalies" RELATED [OMIM:120330]
synonym: "optic nerve coloboma with renal disease" RELATED [OMIM:120330]
synonym: "Papillo-renal syndrome" EXACT [Orphanet:1475]
synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [DOID:0090006]
synonym: "PAPILLORENAL syndrome" RELATED [MONDO:Lexical, OMIM:120330]
synonym: "papillorenal syndrome" EXACT [DOID:0090006]
synonym: "PAPILLORENAL syndrome; PAPRS" RELATED [OMIM:120330]
synonym: "PAPRS" RELATED [MONDO:Lexical, OMIM:120330]
synonym: "renal-coloboma syndrome" RELATED [OMIM:120330]
synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330]
xref: DOID:0090006 {source="MONDO:equivalentTo"}
xref: GARD:0004106 {source="MONDO:equivalentTo"}
xref: ICD10:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="ORDO:1475/attributed", source="ORDO:1475/ntbt", source="DOID:0090006"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537168 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123230 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:120330 {source="Orphanet:1475", source="ORDO:1475/e", source="MONDO:equivalentTo", source="DOID:0090006"}
xref: Orphanet:1475 {source="MONDO:equivalentTo", source="OMIM:120330", source="DOID:0090006"}
xref: SCTID:446449009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1852759 {source="Orphanet:1475", source="ORDO:1475/e", source="NCIT:C123230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120330"}
is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:1475"} ! syndromic developmental defect of the eye
is_a: MONDO:0019721 {source="Orphanet:1475"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020149 {source="Orphanet:1475"} ! rare eye disease due to a differentiation anomaly
property_value: exactMatch DOID:0090006
property_value: exactMatch http://identifiers.org/mesh/C537168
property_value: exactMatch http://identifiers.org/omim/120330
property_value: exactMatch http://identifiers.org/snomedct/446449009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852759
property_value: exactMatch NCIT:C123230
property_value: exactMatch Orphanet:1475
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome xsd:anyURI {source="GARD:0004106"}

[Term]
id: MONDO:0007353
name: coloboma of macula-brachydactyly type B syndrome
def: "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." [Orphanet:1471]
subset: ordo_malformation_syndrome {source="Orphanet:1471"}
synonym: "apical dystrophy" RELATED [OMIM:120400]
synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400]
synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471]
xref: GARD:0001437 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:1471/attributed", source="ORDO:1471/ntbt", source="Orphanet:1471"}
xref: MESH:C535969 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1471", source="ORDO:1471/e"}
xref: OMIM:120400 {source="MONDO:equivalentTo", source="Orphanet:1471", source="ORDO:1471/e"}
xref: Orphanet:1471 {source="MONDO:equivalentTo", source="OMIM:120400"}
xref: SCTID:717785002 {source="MONDO:kboom-pr-0.99/0.73/5.16", source="MONDO:equivalentTo"}
xref: UMLS:C1852752 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120400", source="Orphanet:1471", source="ORDO:1471/e"}
is_a: MONDO:0020243 {source="Orphanet:1471"} ! colobomatous and areolar dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535969
property_value: exactMatch http://identifiers.org/omim/120400
property_value: exactMatch http://identifiers.org/snomedct/717785002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852752
property_value: exactMatch Orphanet:1471

[Term]
id: MONDO:0007354
name: coloboma of optic nerve (disease)
synonym: "coloboma of optic disc" EXACT EXCLUDE [DOID:11975]
synonym: "coloboma of optic nerve" EXACT [MONDO:ambiguous, OMIM:120430]
synonym: "congenital coloboma of the optic nerve" RELATED [GARD:0008502]
synonym: "morning glory Disc anomaly" RELATED [OMIM:120430]
synonym: "optic nerve coloboma" RELATED [GARD:0008502]
synonym: "optic nerve head pits, bilateral congenital" RELATED [OMIM:120430]
xref: DOID:11975 {source="MONDO:equivalentTo"}
xref: GARD:0008502 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0000588 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H47.31 {source="DOID:11975"}
xref: ICD10:H47.319 {source="DOID:11975"}
xref: ICD10:Q14.2 {source="DOID:11975"}
xref: ICD9:377.23 {source="DOID:11975", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C535970 {source="DOID:11975", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:120430 {source="DOID:11975", source="MONDO:equivalentTo"}
xref: SCTID:17541006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:11975", source="MONDO:equivalentTo"}
is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970"} ! coloboma
is_a: MONDO:0001834 {source="DOID:11975", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! visual pathway disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/155191004
property_value: closeMatch http://identifiers.org/snomedct/194049000
property_value: closeMatch http://identifiers.org/snomedct/204184001
property_value: closeMatch http://identifiers.org/snomedct/267744000
property_value: closeMatch http://identifiers.org/snomedct/44295002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155299
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393782
property_value: exactMatch DOID:11975
property_value: exactMatch http://identifiers.org/mesh/C535970
property_value: exactMatch http://identifiers.org/omim/120430
property_value: exactMatch http://identifiers.org/snomedct/17541006

[Term]
id: MONDO:0007355
name: uveal coloboma-cleft lip and palate-intellectual disability
def: "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." [Orphanet:1473]
subset: ordo_malformation_syndrome {source="Orphanet:1473"}
synonym: "COB1" RELATED [MONDO:Lexical, OMIM:120433]
synonym: "coloboma, cleft lip/palate and mental retardation syndrome" RELATED [GARD:0001440]
synonym: "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation" RELATED [MONDO:Lexical, OMIM:120433]
synonym: "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation; COB1" RELATED [OMIM:120433]
synonym: "coloboma-microphthalmos syndrome" RELATED [GARD:0001440]
synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" RELATED [GARD:0001440]
synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED [GARD:0001440]
xref: GARD:0001440 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.2 {source="Orphanet:1473", source="ORDO:1473/attributed", source="ORDO:1473/ntbt"}
xref: MESH:C535971 {source="MONDO:equivalentTo"}
xref: OMIM:120433 {source="Orphanet:1473", source="ORDO:1473/e", source="MONDO:equivalentTo"}
xref: Orphanet:1473 {source="MONDO:equivalentTo", source="OMIM:120433"}
xref: UMLS:C0795902 {source="Orphanet:1473", source="ORDO:1473/e", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1473", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:1473"} ! orofacial clefting syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852750
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3805432
property_value: exactMatch http://identifiers.org/mesh/C535971
property_value: exactMatch http://identifiers.org/omim/120433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795902
property_value: exactMatch Orphanet:1473

[Term]
id: MONDO:0007356
name: Lynch syndrome 1
def: "A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage." [NCIT:C6725]
synonym: "COCA1" RELATED [OMIM:120435]
synonym: "colon cancer, familial nonpolyposis, type 1" RELATED [OMIM:120435]
synonym: "colorectal cancer, hereditary nonpolyposis, type 1" RELATED [OMIM:120435]
synonym: "familial non-polyposis colon cancer type 1" EXACT [NCIT:C6725]
synonym: "Hereditary non-polyposis colon cancer type 1" EXACT [NCIT:C6725]
synonym: "hereditary nonpolyposis colorectal cancer type 1" EXACT [NCIT:C6725]
synonym: "HNPCC1" EXACT [NCIT:C6725]
synonym: "Lynch 1 syndrome" EXACT [NCIT:C6725]
synonym: "Lynch syndrome 2" RELATED [OMIM:120435]
synonym: "LYNCH syndrome I" RELATED [OMIM:120435]
synonym: "Lynch syndrome type 1" EXACT [MONDORULE:1, OMIM:120435]
xref: DOID:0070271 {source="MONDO:equivalentTo"}
xref: NCIT:C6725 {source="MONDO:equivalentTo"}
xref: OMIM:120435 {source="MONDO:equivalentTo"}
is_a: MONDO:0005835 {source="DC-OMIM:120435", source="MONDOLEX:0007356", source="NCIT:C6725"} ! Lynch syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333991
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936783
property_value: exactMatch DOID:0070271
property_value: exactMatch http://identifiers.org/omim/120435
property_value: exactMatch NCIT:C6725

[Term]
id: MONDO:0007357
name: colonic varices without portal hypertension
synonym: "colonic varices without portal hypertension" EXACT [OMIM:120440]
xref: MESH:C565172 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:120440 {source="MONDO:equivalentTo"}
xref: UMLS:C1852721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120440"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565172
property_value: exactMatch http://identifiers.org/omim/120440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852721

[Term]
id: MONDO:0007358
name: comedones, familial Dyskeratotic
synonym: "comedones, familial Dyskeratotic" EXACT [OMIM:120450]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562838 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:120450 {source="MONDO:equivalentTo"}
xref: SCTID:254219004 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0345424 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120450"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562838
property_value: exactMatch http://identifiers.org/omim/120450
property_value: exactMatch http://identifiers.org/snomedct/254219004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345424

[Term]
id: MONDO:0007359
name: commissural lip pits
synonym: "commissural lip pits" EXACT [OMIM:120500]
xref: OMIM:120500 {source="MONDO:equivalentTo"}
xref: SCTID:109550008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.89"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399605
property_value: exactMatch http://identifiers.org/omim/120500
property_value: exactMatch http://identifiers.org/snomedct/109550008

[Term]
id: MONDO:0007360
name: branchiootic syndrome 2
synonym: "bo syndrome 2" RELATED [OMIM:120502]
synonym: "branchiootic syndrome 2" EXACT [OMIM:120502]
synonym: "branchiootic syndrome type 2" EXACT [MONDORULE:1, OMIM:120502]
xref: MESH:C565171 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:120502 {source="MONDO:equivalentTo"}
xref: UMLS:C1852718 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120502"}
is_a: MONDO:0018878 {source="DC-OMIM:120502"} ! branchiootic syndrome
property_value: exactMatch http://identifiers.org/mesh/C565171
property_value: exactMatch http://identifiers.org/omim/120502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852718

[Term]
id: MONDO:0007361
name: C1 inhibitor deficiency
subset: ordo_disease {source="Orphanet:459353"}
synonym: "complement component 4, partial deficiency OF" RELATED [OMIM:120790]
synonym: "Quincke edema" EXACT EXCLUDE [DOID:0060002]
xref: DOID:0060002 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="ORDO:459353/inclusion", source="ORDO:459353/ntbt", source="Orphanet:459353"}
xref: OMIM:120790 {source="MONDO:equivalentTo", source="Orphanet:459353", source="ORDO:459353/e"}
xref: Orphanet:459353 {source="MONDO:equivalentTo"}
xref: UMLS:C1852700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120790"}
is_a: MONDO:0000015 {source="DC-OMIM:120790"} ! classic complement early component deficiency
is_a: MONDO:0018727 {source="Orphanet:459353"} ! immunodeficiency due to a complement regulatory deficiency
is_a: MONDO:0027749 ! serpinopathy
property_value: exactMatch DOID:0060002
property_value: exactMatch http://identifiers.org/omim/120790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852700
property_value: exactMatch Orphanet:459353

[Term]
id: MONDO:0007362
name: cone-rod dystrophy 2
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy" RELATED [OMIM:120970]
synonym: "cone-rod dystrophy 2" EXACT [MONDO:Lexical, OMIM:120970]
synonym: "cone-rod dystrophy 2; CORD2" RELATED [OMIM:120970]
synonym: "cone-rod dystrophy caused by mutation in CRX" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 2" EXACT [DOID:0111005, MONDORULE:1, OMIM:120970]
synonym: "cone-rod retinal dystrophy" RELATED [OMIM:120970]
synonym: "cone-rod retinal dystrophy 2" EXACT [DOID:0111005]
synonym: "CORD2" EXACT [DOID:0111005, MONDO:Lexical, OMIM:120970]
synonym: "CRD2" EXACT [DOID:0111005]
synonym: "CRX cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCRD2" EXACT [DOID:0111005]
synonym: "retinal cone-rod dystrophy" RELATED [OMIM:120970]
synonym: "retinal cone-rod dystrophy 2" EXACT [DOID:0111005]
xref: DOID:0111005 {source="MONDO:equivalentTo"}
xref: GARD:0006145 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:120970 {source="MONDO:equivalentTo", source="DOID:0111005"}
xref: SCTID:80328002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
xref: UMLS:CN074280 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:120970", source="DOID:0111005", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="OMIM:120970"} ! retinitis pigmentosa
property_value: exactMatch DOID:0111005
property_value: exactMatch http://identifiers.org/omim/120970
property_value: exactMatch http://identifiers.org/snomedct/80328002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074280

[Term]
id: MONDO:0007363
name: congenital contractural arachnodactyly
def: "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." [Orphanet:115]
subset: ordo_malformation_syndrome {source="Orphanet:115"}
synonym: "arachnodactyly, contractural Beals type" RELATED [GARD:0005899]
synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical, OMIM:121050]
synonym: "arthrogryposis, distal, type 9; DA9" RELATED [OMIM:121050]
synonym: "Beals syndrome" EXACT [OMIM:121050, Orphanet:115]
synonym: "Beals-Hecht syndrome" EXACT [Orphanet:115]
synonym: "CCA" EXACT [NCIT:C129865]
synonym: "CCA syndrome" EXACT [Orphanet:115]
synonym: "contractural arachnodactyly, congenital" RELATED [OMIM:121050]
synonym: "contractures, multiple with arachnodactyly" RELATED [GARD:0005899]
synonym: "DA9" RELATED [MONDO:Lexical, OMIM:121050]
synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115]
synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899]
xref: GARD:0005899 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q68.8 {source="Orphanet:115", source="ORDO:115/attributed", source="ORDO:115/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="ORDO:115/e"}
xref: NCIT:C129865 {source="MONDO:kboom-pr-0.95/0.86/0.91", source="MONDO:equivalentTo"}
xref: OMIM:121050 {source="Orphanet:115", source="MONDO:equivalentTo", source="ORDO:115/e"}
xref: Orphanet:115 {source="OMIM:121050", source="MONDO:equivalentTo"}
xref: SCTID:205821003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0220668 {source="Orphanet:115", source="OMIM:121050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129865", source="ORDO:115/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0008779 {source="NCIT:C129865"} ! arthrogryposis
is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder
is_a: MONDO:0019942 {source="DC-OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C536211
property_value: exactMatch http://identifiers.org/omim/121050
property_value: exactMatch http://identifiers.org/snomedct/205821003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220668
property_value: exactMatch NCIT:C129865
property_value: exactMatch Orphanet:115

[Term]
id: MONDO:0007364
name: arthrogryposis, distal, type 2E
synonym: "arthrogryposis, distal, type 2E" EXACT [OMIM:121070]
synonym: "contractures of fingers and jaw" RELATED [OMIM:121070]
xref: MESH:C535384 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121070 {source="MONDO:equivalentTo"}
xref: UMLS:C1852597 {source="OMIM:121070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019942 {source="DC-OMIM:121070"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C535384
property_value: exactMatch http://identifiers.org/omim/121070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852597

[Term]
id: MONDO:0007365
name: seizures, benign familial neonatal, 1
def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "benign neonatal seizures caused by mutation in KCNQ2" EXACT [MONDO:design_pattern]
synonym: "BFNS1" RELATED [MONDO:Lexical, OMIM:121200]
synonym: "epilepsy, benign neonatal, 1, and/or myokymia" RELATED [OMIM:121200]
synonym: "KCNQ2 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial neonatal, 1" EXACT [MONDO:Lexical, OMIM:121200]
synonym: "seizures, benign familial neonatal, 1, and/or myokymia" RELATED [OMIM:121200]
synonym: "seizures, benign familial neonatal, 1; BFNS1" RELATED [OMIM:121200]
synonym: "seizures, benign familial neonatal, type 1" EXACT [MONDORULE:1, OMIM:121200]
xref: MESH:C567743 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121200 {source="MONDO:equivalentTo"}
xref: UMLS:C3149074 {source="MONDO:equivalentTo", source="OMIM:121200"}
is_a: MONDO:0016027 {source="DC-OMIM:121200", source="MONDO:Redundant", source="OMIM:121200"} ! benign neonatal seizures
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852587
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751195
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149075
property_value: exactMatch http://identifiers.org/mesh/C567743
property_value: exactMatch http://identifiers.org/omim/121200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3149074

[Term]
id: MONDO:0007366
name: seizures, benign familial neonatal, 2
def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "benign neonatal seizures caused by mutation in KCNQ3" EXACT [MONDO:design_pattern]
synonym: "BFNS2" RELATED [MONDO:Lexical, OMIM:121201]
synonym: "convulsions, benign familial neonatal, 2" RELATED [OMIM:121201]
synonym: "KCNQ3 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial neonatal, 2" EXACT [MONDO:Lexical, OMIM:121201]
synonym: "seizures, benign familial neonatal, 2; BFNS2" RELATED [OMIM:121201]
synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1, OMIM:121201]
xref: OMIM:121201 {source="MONDO:equivalentTo"}
xref: UMLS:C1852581 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:121201"}
is_a: MONDO:0016027 {source="DC-OMIM:121201", source="MONDO:Redundant", source="OMIM:121201"} ! benign neonatal seizures
property_value: exactMatch http://identifiers.org/omim/121201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852581

[Term]
id: MONDO:0007367
name: FEB1
synonym: "convulsions, familial febrile" RELATED [OMIM:121210]
synonym: "convulsions, familial febrile, 1" RELATED [OMIM:121210]
synonym: "FEB1" EXACT [MONDO:Lexical, OMIM:121210]
synonym: "febrile seizures, familial, 1" RELATED [MONDO:Lexical, OMIM:121210]
synonym: "febrile seizures, familial, 1; FEB1" RELATED [OMIM:121210]
xref: ICD9:780.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565162 {source="MONDO:equivalentTo"}
xref: OMIM:121210 {source="MONDO:equivalentTo"}
xref: SCTID:230432008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C1852577 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:121210"}
is_a: MONDO:0000032 {source="DC-OMIM:121210", source="OMIM:121210"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C565162
property_value: exactMatch http://identifiers.org/omim/121210
property_value: exactMatch http://identifiers.org/snomedct/230432008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852577

[Term]
id: MONDO:0007368
name: familial benign copper deficiency
def: "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." [Orphanet:1551]
subset: gard_rare {source="GARD:0001522"}
subset: ordo_disease {source="Orphanet:1551"}
synonym: "copper deficiency, familial benign" RELATED [OMIM:121270]
synonym: "familial benign hypocupremia" RELATED [GARD:0001522]
xref: GARD:0001522 {source="MONDO:equivalentTo"}
xref: ICD10:E83.0 {source="Orphanet:1551", source="ORDO:1551/attributed", source="ORDO:1551/ntbt"}
xref: MESH:C535468 {source="ORDO:1551/e", source="Orphanet:1551", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121270 {source="ORDO:1551/e", source="Orphanet:1551", source="MONDO:equivalentTo"}
xref: Orphanet:1551 {source="OMIM:121270", source="MONDO:equivalentTo"}
xref: SCTID:763531001 {source="MONDO:equivalentTo"}
xref: UMLS:C1852576 {source="ORDO:1551/e", source="OMIM:121270", source="Orphanet:1551", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017762 {source="Orphanet:1551"} ! disorder of copper metabolism
property_value: exactMatch http://identifiers.org/mesh/C535468
property_value: exactMatch http://identifiers.org/omim/121270
property_value: exactMatch http://identifiers.org/snomedct/763531001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852576
property_value: exactMatch Orphanet:1551
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign xsd:anyURI {source="GARD:0001522"}

[Term]
id: MONDO:0007369
name: hereditary coproporphyria
def: "Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." [Orphanet:79273]
subset: gard_rare {source="GARD:0006619"}
subset: ordo_disease {source="Orphanet:79273"}
synonym: "coproporphyria" RELATED [GARD:0006619]
synonym: "coproporphyria hereditary" RELATED [GARD:0006619]
synonym: "coproporphyria, hereditary" RELATED [MONDO:Lexical, OMIM:121300]
synonym: "coproporphyria, hereditary; HCP" RELATED [OMIM:121300]
synonym: "coproporphyrinogen oxidase deficiency" EXACT [DOID:13269, OMIM:121300]
synonym: "Cpo deficiency" RELATED [OMIM:121300]
synonym: "Cpox deficiency" RELATED [OMIM:121300]
synonym: "CPRO deficiency" RELATED [GARD:0006619]
synonym: "Cpx deficiency" RELATED [OMIM:121300]
synonym: "Harderoporphyria" RELATED [OMIM:121300]
synonym: "HCP" RELATED [MONDO:Lexical, OMIM:121300]
synonym: "hereditary coproporphyria" EXACT [DOID:13269, MTHICD9_2006:277.1]
synonym: "hereditary coproporphyria porphyria" EXACT [CSP2005:1849-7674, DOID:13269]
synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619]
synonym: "porphyria hepatica II" RELATED [GARD:0006619]
xref: DOID:13269 {source="MONDO:equivalentTo"}
xref: GARD:0006619 {source="MONDO:equivalentTo"}
xref: ICD10:E80.2 {source="ORDO:79273/attributed", source="ORDO:79273/ntbt", source="Orphanet:79273"}
xref: ICD10:E80.29 {source="DOID:13269"}
xref: MedDRA:10019866 {source="ORDO:79273/e", source="Orphanet:79273"}
xref: MESH:D046349 {source="ORDO:79273/e", source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269"}
xref: NCIT:C84759 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13269"}
xref: OMIM:121300 {source="ORDO:79273/e", source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269"}
xref: Orphanet:79273 {source="MONDO:equivalentTo", source="OMIM:121300"}
xref: SCTID:7425008 {source="MONDO:kboom-pr-0.90/0.72/0.91", source="MONDO:equivalentTo", source="DOID:13269"}
xref: UMLS:C0162531 {source="NCIT:C84759", source="ORDO:79273/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79273", source="OMIM:121300", source="DOID:13269"}
is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273", source="linkedlifedata"} ! acute hepatic porphyria
is_a: MONDO:0019142 {source="DOID:13269/inferred", source="MESH:D046349/inferred", source="MONDO:Redundant", source="MONDOLEX:0007369", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria
property_value: closeMatch http://identifiers.org/snomedct/238055004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342859
property_value: exactMatch DOID:13269
property_value: exactMatch http://identifiers.org/meddra/10019866
property_value: exactMatch http://identifiers.org/mesh/D046349
property_value: exactMatch http://identifiers.org/omim/121300
property_value: exactMatch http://identifiers.org/snomedct/7425008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162531
property_value: exactMatch NCIT:C84759
property_value: exactMatch Orphanet:79273
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria xsd:anyURI {source="GARD:0006619"}

[Term]
id: MONDO:0007370
name: coracoclavicular joint, anomalous
synonym: "coracoclavicular joint, anomalous" EXACT [OMIM:121350]
xref: MESH:C565161 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121350 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852561
property_value: exactMatch http://identifiers.org/mesh/C565161
property_value: exactMatch http://identifiers.org/omim/121350

[Term]
id: MONDO:0007371
name: cornea guttata with anterior polar cataracts
synonym: "cornea guttata with anterior polar cataract" RELATED [GARD:0009507]
synonym: "cornea guttata with anterior polar cataracts" EXACT [OMIM:121390]
synonym: "familial congenital cornea guttata with anterior polar cataracts (type)" RELATED [GARD:0009507]
xref: GARD:0009507 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535471 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121390 {source="MONDO:equivalentTo"}
xref: UMLS:C1852558 {source="OMIM:121390", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C535471/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535471
property_value: exactMatch http://identifiers.org/omim/121390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852558

[Term]
id: MONDO:0007372
name: cornea plana 1, autosomal dominant
synonym: "CNA1" RELATED [MONDO:Lexical, OMIM:121400]
synonym: "cornea plana 1" RELATED [MONDO:Lexical, OMIM:121400]
synonym: "cornea plana 1, autosomal dominant; CNA1" RELATED [OMIM:121400]
synonym: "cornea plana 1; CNA1" RELATED [OMIM:121400]
xref: MESH:C565158 {source="MONDO:equivalentTo"}
xref: OMIM:121400 {source="MONDO:equivalentTo"}
xref: UMLS:C1852557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:121400"}
is_a: MONDO:0018888 {source="ORDO:53691/btnt"} ! congenital cornea plana
property_value: exactMatch http://identifiers.org/mesh/C565158
property_value: exactMatch http://identifiers.org/omim/121400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852557

[Term]
id: MONDO:0007373
name: corneal degeneration, ribbonlike, with deafness
synonym: "band keratopathy with deafness" RELATED [OMIM:121450]
synonym: "corneal degeneration, ribbonlike, with deafness" EXACT [OMIM:121450]
xref: MESH:C565157 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121450 {source="MONDO:equivalentTo"}
xref: UMLS:C1852556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:121450"}
is_a: MONDO:0003847 {source="MESH:C565157/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565157
property_value: exactMatch http://identifiers.org/omim/121450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852556

[Term]
id: MONDO:0007374
name: Schnyder corneal dystrophy
def: "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." [Orphanet:98967]
subset: ordo_disease {source="Orphanet:98967"}
synonym: "corneal dystrophy crystalline of Schnyder" EXACT [DOID:0060456]
synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [OMIM:121800]
synonym: "corneal dystrophy, Schnyder" RELATED [OMIM:121800]
synonym: "crystalline stromal dystrophy" EXACT [DOID:0060456, Orphanet:98967]
synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [DOID:0060456, Orphanet:98967]
synonym: "SCCD" EXACT [DOID:0060456, MONDO:Lexical, OMIM:121800, Orphanet:98967]
synonym: "SCD" EXACT [Orphanet:98967]
synonym: "Schnyder corneal dystrophy" EXACT [MONDO:Lexical, OMIM:121800]
synonym: "Schnyder corneal dystrophy; SCCD" RELATED [OMIM:121800]
synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:121800, Orphanet:98967]
synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967]
xref: DOID:0060456 {source="MONDO:equivalentTo"}
xref: GARD:0009277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="ORDO:98967/attributed", source="ORDO:98967/ntbt", source="Orphanet:98967"}
xref: MESH:C535475 {source="ORDO:98967/e", source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="MONDO:ontobio"}
xref: OMIM:121800 {source="ORDO:98967/e", source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456"}
xref: Orphanet:98967 {source="MONDO:equivalentTo", source="DOID:0060456", source="OMIM:121800"}
xref: SCTID:419395007 {source="MONDO:equivalentTo", source="DOID:0060456"}
is_a: MONDO:0020213 {source="DOID:0060456", source="MONDOLEX:0007374", source="Orphanet:98967"} ! stromal corneal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/39662004
property_value: closeMatch http://identifiers.org/snomedct/420212002
property_value: exactMatch DOID:0060456
property_value: exactMatch http://identifiers.org/mesh/C535475
property_value: exactMatch http://identifiers.org/omim/121800
property_value: exactMatch http://identifiers.org/snomedct/419395007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271287
property_value: exactMatch Orphanet:98967

[Term]
id: MONDO:0007375
name: epithelial basement membrane dystrophy
subset: ordo_disease {source="Orphanet:98956"}
synonym: "anterior basement membrane dystrophy" EXACT [Orphanet:98956]
synonym: "Cogan corneal dystrophy" EXACT [DOID:0060447, OMIM:121820]
synonym: "Cogan microcystic epithelial dystrophy" EXACT [Orphanet:98956]
synonym: "corneal dystrophy, anterior basement Membrane" RELATED [OMIM:121820]
synonym: "corneal dystrophy, epithelial basement MEMBRANE" RELATED [MONDO:Lexical, OMIM:121820]
synonym: "corneal dystrophy, epithelial basement MEMBRANE; EBMD" RELATED [OMIM:121820]
synonym: "corneal dystrophy, Map-Dot-Fingerprint type" RELATED [OMIM:121820]
synonym: "corneal dystrophy, microcystic" RELATED [OMIM:121820]
synonym: "EBMD" EXACT [DOID:0060447, MONDO:Lexical, OMIM:121820]
synonym: "epithelial basement membrane corneal dystrophy" RELATED [GARD:0009732]
synonym: "Map-dot-fingerprint dystrophy" EXACT [Orphanet:98956]
synonym: "Map-dot-fingerprint dystrophy of cornea" RELATED [GARD:0009732]
synonym: "microcystic corneal dystrophy" EXACT [DOID:0060447]
synonym: "microcystic dystrophy of the cornea" RELATED [GARD:0009732]
xref: DOID:0060447 {source="MONDO:equivalentTo"}
xref: GARD:0009732 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H18.5 {source="ORDO:98956/attributed", source="ORDO:98956/ntbt", source="Orphanet:98956", source="DOID:0060447"}
xref: MESH:C535477 {source="MONDO:equivalentTo", source="DOID:0060447", source="MONDO:ontobio"}
xref: OMIM:121820 {source="ORDO:98956/e", source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447"}
xref: Orphanet:98956 {source="MONDO:equivalentTo", source="DOID:0060447", source="OMIM:121820"}
xref: SCTID:373426005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0000763 {source="DOID:0060447"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020212 {source="Orphanet:98956"} ! superficial corneal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0521723
property_value: exactMatch DOID:0060447
property_value: exactMatch http://identifiers.org/mesh/C535477
property_value: exactMatch http://identifiers.org/omim/121820
property_value: exactMatch http://identifiers.org/snomedct/373426005
property_value: exactMatch Orphanet:98956

[Term]
id: MONDO:0007376
name: fleck corneal dystrophy
def: "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." [Orphanet:98970]
subset: ordo_disease {source="Orphanet:98970"}
synonym: "Cfd" RELATED [OMIM:121850]
synonym: "corneal dystrophy, FLECK" RELATED [OMIM:121850]
synonym: "corneal dystrophy, Francois-Neetens speckled or flecked" RELATED [OMIM:121850]
synonym: "FCD" EXACT [DOID:0060448, Orphanet:98970]
synonym: "fleck corneal dystrophy" EXACT [OMIM:121850]
synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970]
synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448]
synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970]
xref: DOID:0060448 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="ORDO:98970/attributed", source="ORDO:98970/ntbt", source="Orphanet:98970"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448", source="MONDO:ontobio"}
xref: OMIM:121850 {source="MONDO:equivalentTo", source="DOID:0060448", source="ORDO:98970/e", source="Orphanet:98970"}
xref: Orphanet:98970 {source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850"}
xref: SCTID:417183007 {source="MONDO:equivalentTo", source="DOID:0060448", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1562113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850", source="ORDO:98970/e", source="Orphanet:98970"}
is_a: MONDO:0020213 {source="DOID:0060448", source="Orphanet:98970", source="linkedlifedata"} ! stromal corneal dystrophy
property_value: exactMatch DOID:0060448
property_value: exactMatch http://identifiers.org/mesh/C563256
property_value: exactMatch http://identifiers.org/omim/121850
property_value: exactMatch http://identifiers.org/snomedct/417183007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562113
property_value: exactMatch Orphanet:98970

[Term]
id: MONDO:0007377
name: granular corneal dystrophy type I
def: "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." [Orphanet:98962]
subset: ordo_disease {source="Orphanet:98962"}
synonym: "CDGG1" RELATED [MONDO:Lexical, OMIM:121900]
synonym: "classic GCD" EXACT [Orphanet:98962]
synonym: "classic granular corneal dystrophy" EXACT [Orphanet:98962]
synonym: "corneal dystrophy granular type" RELATED [GARD:0009677]
synonym: "corneal dystrophy Groenouw type I" EXACT [Orphanet:98962]
synonym: "corneal dystrophy punctate or nodular" RELATED [GARD:0009677]
synonym: "corneal dystrophy, Groenouw type 1" RELATED [OMIM:121900]
synonym: "corneal dystrophy, Groenouw type I" RELATED [MONDO:Lexical, OMIM:121900]
synonym: "corneal dystrophy, Groenouw type I; CDGG1" RELATED [OMIM:121900]
synonym: "corneal dystrophy, punctate or nodular" RELATED [OMIM:121900]
synonym: "GCD1" EXACT [Orphanet:98962]
synonym: "GCDI" EXACT [Orphanet:98962]
synonym: "granular corneal dystrophy type 1" EXACT [Orphanet:98962]
synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900]
synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677]
xref: GARD:0009677 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H18.5 {source="Orphanet:98962", source="ORDO:98962/attributed", source="ORDO:98962/ntbt"}
xref: MESH:C537304 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="ORDO:98962/e"}
xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"}
xref: SCTID:419039007 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C1641846 {source="OMIM:121900", source="MEDGEN:kboom-pr98-c99", source="Orphanet:98962", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020213 {source="Orphanet:98962", source="linkedlifedata", source="linkedlifedata/inferred"} ! stromal corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537304
property_value: exactMatch http://identifiers.org/omim/121900
property_value: exactMatch http://identifiers.org/snomedct/419039007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1641846
property_value: exactMatch Orphanet:98962

[Term]
id: MONDO:0007378
name: posterior polymorphous corneal dystrophy 1
def: "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." [DOID:0110855, PMID:26749309]
synonym: "Ched1" EXACT [DOID:0110855]
synonym: "corneal dystrophy, hereditary polymorphous posterior" RELATED [OMIM:122000]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical, OMIM:122000]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 1; PPCD1" RELATED [OMIM:122000]
synonym: "corneal dystrophy, posterior polymorphous, type 1" EXACT [MONDORULE:1, OMIM:122000]
synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [DOID:0110855, OMIM:122000]
synonym: "corneal endothelial dystrophy 1, autosomal dominant, formerly" RELATED [OMIM:122000]
synonym: "Maumenee corneal dystrophy" EXACT EXCLUDE [DOID:0110855]
synonym: "posterior polymorphous corneal dystrophy" RELATED [OMIM:122000]
synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [DOID:0110855, MONDORULE:1]
synonym: "PPCD1" RELATED [MONDO:Lexical, OMIM:122000]
synonym: "Ppcd1" EXACT [DOID:0110855]
xref: DOID:0110855 {source="MONDO:equivalentTo"}
xref: ICD10:H18.50 {source="DOID:0110855"}
xref: ICD9:371.58 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:122000 {source="DOID:0110855", source="MONDO:equivalentTo"}
xref: SCTID:29504002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
xref: UMLS:CN029625 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020364 {source="DC-OMIM:122000", source="DOID:0110855", source="MONDO:Redundant", source="MONDOLEX:0007378", source="OMIM:122000"} ! posterior polymorphous corneal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339284
property_value: exactMatch DOID:0110855
property_value: exactMatch http://identifiers.org/omim/122000
property_value: exactMatch http://identifiers.org/snomedct/29504002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029625

[Term]
id: MONDO:0007379
name: Meesmann corneal dystrophy
def: "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." [Orphanet:98954]
subset: gard_rare {source="GARD:0009688"}
subset: ordo_disease {source="Orphanet:98954"}
synonym: "corneal dystrophy, juvenile epithelial of Meesmann" RELATED [GARD:0009688]
synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [OMIM:122100]
synonym: "corneal dystrophy, Meesmann" RELATED [MONDO:Lexical, OMIM:122100]
synonym: "corneal dystrophy, Meesmann epithelial" RELATED [OMIM:122100]
synonym: "corneal dystrophy, Meesmann; MECD" RELATED [OMIM:122100]
synonym: "juvenile epithelial of Meesmann corneal dystrophy" EXACT [NCIT:C84795]
synonym: "juvenile hereditary epithelial dystrophy" EXACT [DOID:0060451]
synonym: "juvenile hereditary epithelial dystrophy of Meesmann" EXACT [Orphanet:98954]
synonym: "MECD" EXACT [DOID:0060451, MONDO:Lexical, OMIM:122100, Orphanet:98954]
synonym: "Meesman dystrophy" RELATED [GARD:0009688]
synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100]
synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688]
synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451]
xref: DOID:0060451 {source="MONDO:equivalentTo"}
xref: GARD:0009688 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:98954", source="ORDO:98954/attributed", source="ORDO:98954/ntbt"}
xref: ICD10:H18.52 {source="DOID:0060451"}
xref: ICD9:371.51 {source="DOID:0060451"}
xref: MESH:D053559 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84795 {source="DOID:0060451", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:122100 {source="MONDO:equivalentTo"}
xref: Orphanet:98954 {source="DOID:0060451", source="MONDO:equivalentTo", source="OMIM:122100"}
xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"}
xref: UMLS:C0339277 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122100", source="NCIT:C84795"}
is_a: MONDO:0000763 {source="DOID:0060451"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98954", source="linkedlifedata"} ! superficial corneal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/193833008
property_value: exactMatch DOID:0060451
property_value: exactMatch http://identifiers.org/mesh/D053559
property_value: exactMatch http://identifiers.org/omim/122100
property_value: exactMatch http://identifiers.org/snomedct/1674008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339277
property_value: exactMatch NCIT:C84795
property_value: exactMatch Orphanet:98954
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy xsd:anyURI {source="GARD:0009688"}

[Term]
id: MONDO:0007380
name: lattice corneal dystrophy type I
def: "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." [Orphanet:98964]
subset: ordo_disease {source="Orphanet:98964"}
synonym: "Biber-Haab-Dimmer dystrophy" EXACT [Orphanet:98964]
synonym: "CDL1" RELATED [OMIM:122200]
synonym: "classic lattice corneal dystrophy" EXACT [Orphanet:98964]
synonym: "corneal dystrophy, lattice type 1" RELATED [GARD:0009678, OMIM:122200]
synonym: "corneal dystrophy, lattice type I" RELATED [MONDO:Lexical, OMIM:122200]
synonym: "corneal dystrophy, lattice type I; Lcd1" RELATED [OMIM:122200]
synonym: "lattice corneal dystrophy type 1" EXACT [Orphanet:98964]
synonym: "lattice corneal dystrophy, type 1" RELATED [OMIM:122200]
synonym: "LCD" RELATED [OMIM:122200]
synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964]
synonym: "LCDI" EXACT [Orphanet:98964]
xref: GARD:0009678 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="Orphanet:98964", source="ORDO:98964/attributed", source="ORDO:98964/ntbt"}
xref: MESH:C537881 {source="ORDO:98964/e", source="Orphanet:98964", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122200 {source="ORDO:98964/e", source="Orphanet:98964", source="MONDO:equivalentTo"}
xref: Orphanet:98964 {source="MONDO:equivalentTo", source="OMIM:122200"}
xref: SCTID:419197009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1690006 {source="ORDO:98964/e", source="NCBI:mim2gene_medline", source="Orphanet:98964", source="MONDO:equivalentTo", source="OMIM:122200"}
xref: UMLS:CN207224 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0004686 ! lattice corneal dystrophy (disease)
property_value: exactMatch http://identifiers.org/mesh/C537881
property_value: exactMatch http://identifiers.org/omim/122200
property_value: exactMatch http://identifiers.org/snomedct/419197009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1690006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207224
property_value: exactMatch Orphanet:98964

[Term]
id: MONDO:0007381
name: epithelial recurrent erosion dystrophy
def: "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." [Orphanet:293381]
subset: ordo_disease {source="Orphanet:293381"}
synonym: "corneal erosions, recurring hereditary" RELATED [OMIM:122400]
synonym: "dystrophia Helsinglandica" EXACT [Orphanet:293381]
synonym: "dystrophia Smolandiensis" EXACT [Orphanet:293381]
synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122400]
synonym: "epithelial recurrent erosion dystrophy; ERED" RELATED [OMIM:122400]
synonym: "ERED" EXACT [MONDO:Lexical, OMIM:122400, Orphanet:293381]
synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381]
xref: ICD10:H18.5 {source="Orphanet:293381", source="ORDO:293381/attributed", source="ORDO:293381/ntbt"}
xref: MESH:C565155 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122400 {source="ORDO:293381/e", source="Orphanet:293381", source="MONDO:equivalentTo"}
xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"}
xref: SCTID:715908008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1852551 {source="Orphanet:293381", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122400"}
is_a: MONDO:0020212 {source="Orphanet:293381"} ! superficial corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C565155
property_value: exactMatch http://identifiers.org/omim/122400
property_value: exactMatch http://identifiers.org/snomedct/715908008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852551
property_value: exactMatch Orphanet:293381

[Term]
id: MONDO:0007382
name: Ramos-Arroyo syndrome
def: "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability." [Orphanet:1051]
subset: ordo_malformation_syndrome {source="Orphanet:1051"}
synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED [GARD:0004636]
synonym: "corneal anesthesia-deafness-intellectual disability syndrome" EXACT [Orphanet:1051]
synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED [OMIM:122430]
synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636]
synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430]
xref: GARD:0004636 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1051", source="ORDO:1051/attributed", source="ORDO:1051/ntbt"}
xref: MESH:C535286 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122430 {source="MONDO:equivalentTo", source="Orphanet:1051", source="ORDO:1051/e"}
xref: Orphanet:1051 {source="MONDO:equivalentTo", source="OMIM:122430"}
xref: UMLS:C2930866 {source="MONDO:equivalentTo", source="OMIM:122430", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1051"}
is_a: MONDO:0000508 {source="Orphanet:1051"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:1051"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852543
property_value: exactMatch http://identifiers.org/mesh/C535286
property_value: exactMatch http://identifiers.org/omim/122430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930866
property_value: exactMatch Orphanet:1051

[Term]
id: MONDO:0007383
name: Stern-Lubinsky-Durrie syndrome
def: "Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3194]
subset: ordo_malformation_syndrome {source="Orphanet:3194"}
synonym: "Cdo syndrome" RELATED [OMIM:122440]
synonym: "corneal dystrophy epithelial and short stature" RELATED [GARD:0001531]
synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED [OMIM:122440]
synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194]
synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440]
synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531]
xref: GARD:0001531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="ORDO:3194/attributed", source="ORDO:3194/ntbt", source="Orphanet:3194"}
xref: MESH:C537488 {source="MONDO:equivalentTo", source="Orphanet:3194", source="ORDO:3194/e"}
xref: OMIM:122440 {source="MONDO:equivalentTo", source="Orphanet:3194", source="ORDO:3194/e"}
xref: Orphanet:3194 {source="MONDO:equivalentTo", source="OMIM:122440"}
xref: SCTID:723584003 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:3194"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020215 {source="Orphanet:3194"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C536444
property_value: exactMatch http://identifiers.org/mesh/C537488
property_value: exactMatch http://identifiers.org/omim/122440
property_value: exactMatch http://identifiers.org/snomedct/723584003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931506
property_value: exactMatch Orphanet:3194

[Term]
id: MONDO:0007384
name: congenital trigeminal anesthesia
def: "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." [Orphanet:231013]
subset: ordo_disease {source="Orphanet:231013"}
synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450]
synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034]
synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450]
xref: GARD:0010034 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G50.8 {source="Orphanet:231013", source="ORDO:231013/attributed", source="ORDO:231013/ntbt"}
xref: MESH:C536440 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122450 {source="ORDO:231013/e", source="Orphanet:231013", source="MONDO:equivalentTo"}
xref: Orphanet:231013 {source="OMIM:122450", source="MONDO:equivalentTo"}
xref: SCTID:763218005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852541 {source="OMIM:122450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015368 {source="Orphanet:231013"} ! neuro-ophthalmological disease
is_a: MONDO:0020127 {source="Orphanet:231013"} ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C536440
property_value: exactMatch http://identifiers.org/omim/122450
property_value: exactMatch http://identifiers.org/snomedct/763218005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852541
property_value: exactMatch Orphanet:231013

[Term]
id: MONDO:0007385
name: idiopathic spontaneous coronary artery dissection
subset: ordo_disease {source="Orphanet:458718"}
synonym: "coronary artery dissection, spontaneous" RELATED [OMIM:122455]
synonym: "idiopathic SCAD" EXACT [Orphanet:458718]
xref: ICD10:I25.4 {source="ORDO:458718/ntbt", source="Orphanet:458718"}
xref: MESH:C565153 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122455 {source="MONDO:equivalentTo", source="Orphanet:458718", source="ORDO:458718/e"}
xref: Orphanet:458718 {source="MONDO:equivalentTo"}
xref: UMLS:C1852540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122455"}
is_a: MONDO:0024471 {source="Orphanet:458718"} ! non-inflammatory vasculopathy
property_value: exactMatch http://identifiers.org/mesh/C565153
property_value: exactMatch http://identifiers.org/omim/122455
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852540
property_value: exactMatch Orphanet:458718

[Term]
id: MONDO:0007386
name: obsolete human coronavirus sensitivity
synonym: "Coronavirus 229E susceptibility" RELATED [OMIM:122460]
synonym: "HCVS" EXACT [MONDO:Lexical, OMIM:122460]
synonym: "human coronavirus sensitivity" RELATED [MONDO:Lexical, OMIM:122460]
synonym: "human coronavirus sensitivity; HCVS" RELATED [OMIM:122460]
xref: OMIM:122460 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852539
property_value: exactMatch http://identifiers.org/omim/122460
is_obsolete: true

[Term]
id: MONDO:0007387
name: Cornelia de Lange syndrome 1
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Brachmann-De Lange syndrome" RELATED [OMIM:122470]
synonym: "Cdl" RELATED [OMIM:122470]
synonym: "CDLS1" RELATED [MONDO:Lexical, OMIM:122470]
synonym: "Cornelia de Lange syndrome 1" EXACT [MONDO:Lexical, OMIM:122470]
synonym: "Cornelia DE Lange syndrome 1; CDLS1" RELATED [OMIM:122470]
synonym: "Cornelia de Lange syndrome caused by mutation in NIPBL" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 1" EXACT [MONDORULE:1, OMIM:122470]
synonym: "De Lange syndrome" RELATED [OMIM:122470]
synonym: "NIPBL Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "typus Degenerativus Amstelodamensis" RELATED [OMIM:122470]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:122470 {source="MONDO:equivalentTo"}
xref: SCTID:40354009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
xref: UMLS:CN029798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016033 {source="DC-OMIM:122470", source="MONDO:Redundant", source="OMIM:122470"} ! Cornelia de Lange syndrome
property_value: exactMatch http://identifiers.org/omim/122470
property_value: exactMatch http://identifiers.org/snomedct/40354009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029798

[Term]
id: MONDO:0007388
name: congenitally short costocoracoid ligament
def: "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." [Orphanet:2391]
subset: gard_rare {source="GARD:0001551"}
subset: ordo_malformation_syndrome {source="Orphanet:2391"}
synonym: "congenital shortness of the costocoracoid ligament" RELATED [GARD:0001551]
synonym: "costocoracoid ligament congenitally short" RELATED [GARD:0001551]
synonym: "costocoracoid ligament, congenitally short" RELATED [OMIM:122580]
synonym: "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" RELATED [GARD:0001551]
xref: GARD:0001551 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="ORDO:2391/ntbt", source="Orphanet:2391"}
xref: MESH:C536448 {source="MONDO:equivalentTo", source="Orphanet:2391", source="MONDO:ontobio", source="ORDO:2391/e"}
xref: OMIM:122580 {source="MONDO:equivalentTo", source="Orphanet:2391", source="ORDO:2391/e"}
xref: Orphanet:2391 {source="OMIM:122580", source="MONDO:equivalentTo"}
xref: SCTID:725101002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015929 {source="Orphanet:2391"} ! thoracic malformation
property_value: exactMatch http://identifiers.org/mesh/C536448
property_value: exactMatch http://identifiers.org/omim/122580
property_value: exactMatch http://identifiers.org/snomedct/725101002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852523
property_value: exactMatch Orphanet:2391
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short xsd:anyURI {source="GARD:0001551"}

[Term]
id: MONDO:0007389
name: spondylocostal dysostosis 5
def: "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene." [MONDO:patterns/disease_series_by_gene]
comment: May be AD or AR
synonym: "costovertebral segmentation anomalies" RELATED [OMIM:122600]
synonym: "polydysspondyly" RELATED [OMIM:122600]
synonym: "SCDO5" RELATED [MONDO:Lexical, OMIM:122600]
synonym: "scoliosis, congenital, with or without rib anomalies" RELATED [OMIM:122600]
synonym: "spondylocostal dysostosis 5" EXACT [MONDO:Lexical, OMIM:122600]
synonym: "spondylocostal dysostosis 5; SCDO5" RELATED [OMIM:122600]
synonym: "spondylocostal dysostosis caused by mutation in TBX6" EXACT [MONDO:design_pattern]
synonym: "spondylocostal dysostosis type 5" EXACT [MONDORULE:1, OMIM:122600]
synonym: "spondylocostal dysplasia" RELATED [OMIM:122600]
synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, OMIM:122600]
synonym: "TBX6 spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0012806 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:122600 {source="MONDO:equivalentTo"}
xref: UMLS:C4083048 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000359 {source="DC-OMIM:122600", source="MONDO:Redundant", source="MONDOLEX:0007389", source="OMIM:122600"} ! spondylocostal dysostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852521
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852522
property_value: exactMatch http://identifiers.org/omim/122600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4083048

[Term]
id: MONDO:0007390
name: coumarin resistance
synonym: "coumarin resistance" EXACT [OMIM:122700]
synonym: "coumarin sensitivity" RELATED [OMIM:122700]
synonym: "coumarin, poor metabolism of" RELATED [OMIM:122700]
synonym: "warfarin resistance" RELATED [OMIM:122700]
synonym: "warfarin sensitivity" RELATED [OMIM:122700]
xref: GARD:0012639 {source="MONDO:equivalentTo"}
xref: GARD:0012721 {source="MONDO:equivalentTo"}
xref: OMIM:122700 {source="MONDO:equivalentTo"}
xref: SCTID:726543008 {source="MONDO:equivalentTo"}
xref: UMLS:C0750384 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:122700"}
xref: UMLS:CN078029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608079
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675747
property_value: exactMatch http://identifiers.org/omim/122700
property_value: exactMatch http://identifiers.org/snomedct/726543008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN078029

[Term]
id: MONDO:0007391
name: coxa vara (disease)
def: "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." [MESH:D060905]
synonym: "coxa vara" EXACT [MONDO:ambiguous, OMIM:122750]
synonym: "coxa vara, congenital" RELATED [GARD:0008750]
xref: EFO:1001298 {source="MONDO:equivalentTo"}
xref: GARD:0008750 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0002812 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D060905 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122750 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0239138
property_value: exactMatch http://identifiers.org/mesh/D060905
property_value: exactMatch http://identifiers.org/omim/122750

[Term]
id: MONDO:0007392
name: coxoauricular syndrome
def: "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." [Orphanet:1508]
subset: gard_rare {source="GARD:0001558"}
subset: ordo_malformation_syndrome {source="Orphanet:1508"}
synonym: "coxoauricular syndrome" EXACT [OMIM:122780]
xref: GARD:0001558 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:1508/attributed", source="ORDO:1508/ntbt", source="Orphanet:1508"}
xref: MESH:C565148 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122780 {source="MONDO:equivalentTo", source="ORDO:1508/e", source="Orphanet:1508"}
xref: Orphanet:1508 {source="OMIM:122780", source="MONDO:equivalentTo"}
xref: SCTID:732248005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852513 {source="OMIM:122780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1508"}
is_a: MONDO:0019700 {source="Orphanet:1508"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C565148
property_value: exactMatch http://identifiers.org/omim/122780
property_value: exactMatch http://identifiers.org/snomedct/732248005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852513
property_value: exactMatch Orphanet:1508
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome xsd:anyURI {source="GARD:0001558"}

[Term]
id: MONDO:0007393
name: cranioacrofacial syndrome
synonym: "Cranioacrofacial syndrome" EXACT [OMIM:122850]
xref: MESH:C565147 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122850 {source="MONDO:equivalentTo"}
xref: Orphanet:1339 {source="MONDO:equivalentTo"}
xref: UMLS:C1852512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565147
property_value: exactMatch http://identifiers.org/omim/122850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852512
property_value: exactMatch Orphanet:1339

[Term]
id: MONDO:0007394
name: obsolete craniodiaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009031

[Term]
id: MONDO:0007395
name: craniofacial-deafness-hand syndrome
def: "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features." [Orphanet:1529]
subset: gard_rare {source="GARD:0001571"}
subset: ordo_malformation_syndrome {source="Orphanet:1529"}
synonym: "CDHS" EXACT [MONDO:Lexical, OMIM:122880, Orphanet:1529]
synonym: "craniofacial deafness hand syndrome" RELATED [GARD:0001571]
synonym: "craniofacial-deafness-hand syndrome" EXACT [MONDO:Lexical, OMIM:122880]
synonym: "craniofacial-deafness-hand syndrome; CDHS" RELATED [OMIM:122880]
synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" RELATED [GARD:0001571]
synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529]
xref: GARD:0001571 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1529", source="ORDO:1529/attributed", source="ORDO:1529/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536453 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1529", source="ORDO:1529/e"}
xref: OMIM:122880 {source="MONDO:equivalentTo", source="Orphanet:1529", source="ORDO:1529/e"}
xref: Orphanet:1529 {source="MONDO:equivalentTo", source="OMIM:122880"}
xref: SCTID:702362004 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:1529"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1529"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536453
property_value: exactMatch http://identifiers.org/omim/122880
property_value: exactMatch http://identifiers.org/snomedct/702362004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852510
property_value: exactMatch Orphanet:1529
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome xsd:anyURI {source="GARD:0001571"}

[Term]
id: MONDO:0007396
name: dysostosis, Stanescu type
def: "Stanescu type dysostosis is a rare form of osteosclerosis." [Orphanet:1798]
subset: ordo_malformation_syndrome {source="Orphanet:1798"}
synonym: "autosomal dominant osteosclerosis, Stanescu type" EXACT [Orphanet:1798]
synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [OMIM:122900]
synonym: "craniofacial dysostosis-diaphyseal hyperplasia syndrome" EXACT [Orphanet:1798]
synonym: "dysostosis Stanescu type" RELATED [GARD:0002016]
synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900]
synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798]
xref: GARD:0002016 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:1798/attributed", source="ORDO:1798/ntbt", source="Orphanet:1798"}
xref: MESH:C562974 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="ORDO:1798/e"}
xref: Orphanet:1798 {source="MONDO:equivalentTo", source="OMIM:122900"}
xref: SCTID:254124008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0432263 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1798", source="OMIM:122900"}
is_a: MONDO:0019703 {source="Orphanet:1798"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C562974
property_value: exactMatch http://identifiers.org/omim/122900
property_value: exactMatch http://identifiers.org/snomedct/254124008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432263
property_value: exactMatch Orphanet:1798

[Term]
id: MONDO:0007397
name: craniometaphyseal dysplasia, autosomal dominant
synonym: "CMD" RELATED [OMIM:123000]
synonym: "CMDD" RELATED [MONDO:Lexical, OMIM:123000]
synonym: "CMDJ" RELATED [GARD:0001581]
synonym: "craniometaphyseal dysplasia Jackson type" RELATED [GARD:0001581]
synonym: "craniometaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:123000]
synonym: "craniometaphyseal dysplasia, autosomal dominant; CMDD" RELATED [OMIM:123000]
synonym: "craniometaphyseal dysplasia, Jackson type" RELATED [OMIM:123000]
xref: GARD:0001581 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C565145 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123000 {source="MONDO:equivalentTo"}
xref: UMLS:C1852502 {source="OMIM:123000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015465 {source="DC-OMIM:123000"} ! craniometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C565145
property_value: exactMatch http://identifiers.org/omim/123000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852502

[Term]
id: MONDO:0007398
name: craniorhiny
subset: ordo_malformation_syndrome {source="Orphanet:157832"}
synonym: "craniorhiny" EXACT [OMIM:123050]
xref: ICD10:Q30.8 {source="ORDO:157832/ntbt", source="Orphanet:157832"}
xref: MESH:C565144 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123050 {source="ORDO:157832/e", source="MONDO:equivalentTo", source="Orphanet:157832"}
xref: Orphanet:157832 {source="OMIM:123050", source="MONDO:equivalentTo"}
xref: UMLS:C1852501 {source="OMIM:123050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157832"}
is_a: MONDO:0015503 {source="Orphanet:157832"} ! nose and cavum anomaly
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/mesh/C565144
property_value: exactMatch http://identifiers.org/omim/123050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852501
property_value: exactMatch Orphanet:157832

[Term]
id: MONDO:0007399
name: craniosynostosis 1
synonym: "craniostenosis" RELATED [OMIM:123100]
synonym: "craniosynostosis 1" EXACT [MONDO:Lexical, OMIM:123100]
synonym: "craniosynostosis 1; CRS1" RELATED [OMIM:123100]
synonym: "craniosynostosis type 1" EXACT [MONDORULE:1, OMIM:123100]
synonym: "CRS" RELATED [OMIM:123100]
synonym: "CRS1" RELATED [MONDO:Lexical, OMIM:123100]
xref: OMIM:123100 {source="MONDO:equivalentTo"}
xref: SCTID:57219006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.35/0.08"}
xref: UMLS:CN029978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018112 {source="ORDO:35093/btnt"} ! isolated scaphocephaly
is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly
is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly
is_a: MONDO:0018971 {source="ORDO:63440/btnt"} ! isolated oxycephaly
property_value: exactMatch http://identifiers.org/omim/123100
property_value: exactMatch http://identifiers.org/snomedct/57219006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029978

[Term]
id: MONDO:0007400
name: Jackson-Weiss syndrome
def: "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." [Orphanet:1540]
subset: gard_rare {source="GARD:0006796"}
subset: ordo_malformation_syndrome {source="Orphanet:1540"}
synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [OMIM:123150]
synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [Orphanet:1540]
synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150]
synonym: "Jackson-Weiss syndrome; JWS" RELATED [OMIM:123150]
synonym: "JWS" EXACT [MONDO:Lexical, OMIM:123150, Orphanet:1540]
xref: GARD:0006796 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1540", source="ORDO:1540/attributed", source="ORDO:1540/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537559 {source="ORDO:1540/e", source="Orphanet:1540", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123814 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:123150 {source="ORDO:1540/e", source="Orphanet:1540", source="MONDO:equivalentTo"}
xref: Orphanet:1540 {source="OMIM:123150", source="MONDO:equivalentTo"}
xref: SCTID:709105005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0795998 {source="NCIT:C123814", source="OMIM:123150", source="ORDO:1540/e", source="Orphanet:1540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019796 {source="Orphanet:1540"} ! acrocephalosyndactyly
property_value: exactMatch http://identifiers.org/mesh/C537559
property_value: exactMatch http://identifiers.org/omim/123150
property_value: exactMatch http://identifiers.org/snomedct/709105005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795998
property_value: exactMatch NCIT:C123814
property_value: exactMatch Orphanet:1540
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome xsd:anyURI {source="GARD:0006796"}

[Term]
id: MONDO:0007401
name: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
def: "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." [Orphanet:1538]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1538"}
synonym: "Braddock Jones Superneau syndrome" RELATED [GARD:0000998]
synonym: "Braddock-Jones-Superneau syndrome" EXACT [GARD:0001592, Orphanet:1538]
synonym: "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" EXACT [GARD:0001592]
synonym: "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus" RELATED [GARD:0001592]
synonym: "HDCPH1" RELATED [MONDO:Lexical, OMIM:123155]
synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155]
synonym: "hydrocephalus, autosomal dominant; HDCPH1" RELATED [OMIM:123155]
synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592]
xref: GARD:0000998 {source="MONDO:equivalentTo"}
xref: GARD:0001592 {source="MONDO:equivalentTo"}
xref: ICD10:Q03.1 {source="ORDO:1538/attributed", source="ORDO:1538/ntbt", source="Orphanet:1538"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="ORDO:1538/attributed", source="ORDO:1538/ntbt", source="Orphanet:1538"}
xref: MESH:C563973 {source="MONDO:equivalentTo"}
xref: OMIM:123155 {source="MONDO:equivalentTo", source="Orphanet:1538", source="ORDO:1538/e", source="GARD:0001592"}
xref: Orphanet:1538 {source="MONDO:equivalentTo", source="OMIM:123155", source="GARD:0001592"}
xref: SCTID:720813007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:CN199608 {source="MONDO:equivalentTo"}
is_a: MONDO:0015704 {source="Orphanet:1538"} ! familial scaphocephaly syndrome
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0017121 {source="Orphanet:1538"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838347
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852488
property_value: exactMatch http://identifiers.org/mesh/C563973
property_value: exactMatch http://identifiers.org/omim/123155
property_value: exactMatch http://identifiers.org/snomedct/720813007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199608
property_value: exactMatch Orphanet:1538
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus xsd:anyURI {source="GARD:0001592"}

[Term]
id: MONDO:0007402
name: creatine phosphokinase, elevated serum
synonym: "CPK, elevated serum" RELATED [OMIM:123320]
synonym: "creatine phosphokinase, elevated serum" EXACT [OMIM:123320]
synonym: "hyperCKemia, idiopathic" RELATED [OMIM:123320]
xref: OMIM:123320 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:123320/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241005
property_value: exactMatch http://identifiers.org/omim/123320

[Term]
id: MONDO:0007403
name: inherited Creutzfeldt-Jakob disease
def: "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." [Orphanet:282166]
subset: ordo_disease {source="Orphanet:282166"}
synonym: "CJD" RELATED [MONDO:Lexical, OMIM:123400]
synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical, OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, familial" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, Heidenhain variant" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, sporadic" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease; CJD" RELATED [OMIM:123400]
synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary]
synonym: "inherited CJD" EXACT [Orphanet:282166]
xref: ICD10:A81.0 {source="ORDO:282166/attributed", source="ORDO:282166/ntbt", source="Orphanet:282166"}
xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="ORDO:282166/e"}
xref: Orphanet:282166 {source="MONDO:equivalentTo", source="OMIM:123400"}
xref: SCTID:715807002 {source="MONDO:kboom-pr-0.72/0.42/0.08", source="MONDO:equivalentTo"}
xref: UMLS:CN202816 {source="MONDO:equivalentTo"}
is_a: MONDO:0005357 {source="MONDO:Redundant", source="MONDOLEX:0007403", source="linkedlifedata"} ! Creutzfeldt Jacob disease
is_a: MONDO:0017234 {source="MONDO:Redundant", source="Orphanet:282166"} ! inherited prion disease
is_a: MONDO:0017662 {source="Orphanet:282166"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
intersection_of: MONDO:0005357 ! Creutzfeldt Jacob disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0376329
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751254
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852467
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969957
property_value: exactMatch http://identifiers.org/omim/123400
property_value: exactMatch http://identifiers.org/snomedct/715807002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202816
property_value: exactMatch Orphanet:282166

[Term]
id: MONDO:0007404
name: Cri-du-chat syndrome
def: "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." [Orphanet:281]
subset: ordo_malformation_syndrome {source="Orphanet:281"}
synonym: "5p deletion syndrome" EXACT [DOID:12580, NCIT:C34518]
synonym: "5p minus syndrome" RELATED [GARD:0006213]
synonym: "5p partial monosomy syndrome" EXACT [NCIT:C34518]
synonym: "5p- syndrome" RELATED [GARD:0006213]
synonym: "Cat Cry syndrome" RELATED [OMIM:123450]
synonym: "Cat-Cry syndrome" EXACT [NCIT:C34518]
synonym: "chromosome 5 short arm deletion syndrome" EXACT [CSP2005:1254-8011, DOID:12580]
synonym: "chromosome 5P deletion syndrome" RELATED [OMIM:123450]
synonym: "chromosome 5p deletion syndrome" EXACT [DOID:12580, MTHICD9_2006:758.31]
synonym: "chromosome 5p- syndrome" RELATED [GARD:0006213]
synonym: "Cri du chat syndrome" EXACT [Orphanet:281]
synonym: "Cri-du-chat syndrome" EXACT [DOID:12580, ICD9CM_2006:758.31, OMIM:123450]
synonym: "deletion 5p" EXACT [Orphanet:281]
synonym: "monosomy 5p" RELATED [Orphanet:281]
synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281]
xref: DOID:12580 {source="MONDO:equivalentTo"}
xref: GARD:0006213 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.4 {source="DOID:12580", source="ORDO:281/ntbt", source="Orphanet:281", source="ORDO:281/inclusion"}
xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10011385 {source="ORDO:281/e", source="Orphanet:281"}
xref: MESH:D003410 {source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="MONDO:ontobio"}
xref: NCIT:C34518 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.83"}
xref: OMIM:123450 {source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281"}
xref: Orphanet:281 {source="OMIM:123450", source="MONDO:equivalentTo"}
xref: SCTID:70173007 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010314 {source="NCIT:C34518", source="NCBI:mim2gene_medline", source="OMIM:123450", source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281"}
xref: UMLS:CN776901 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DOID:12580"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016887 {source="Orphanet:281"} ! partial deletion of the short arm of chromosome 5
is_a: MONDO:0020165 {source="Orphanet:281"} ! syndromic epicanthus
is_a: MONDO:0020253 {source="Orphanet:281"} ! syndrome with a symptomatic strabismus
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:281"} ! chromosomal anomaly with cataract
property_value: exactMatch DOID:12580
property_value: exactMatch http://identifiers.org/meddra/10011385
property_value: exactMatch http://identifiers.org/mesh/C538482
property_value: exactMatch http://identifiers.org/mesh/D003410
property_value: exactMatch http://identifiers.org/omim/123450
property_value: exactMatch http://identifiers.org/snomedct/70173007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776901
property_value: exactMatch NCIT:C34518
property_value: exactMatch Orphanet:281

[Term]
id: MONDO:0007405
name: Crouzon syndrome
def: "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." [Orphanet:207]
subset: gard_rare {source="GARD:0006206"}
subset: ordo_malformation_syndrome {source="Orphanet:207"}
synonym: "Cfd1" RELATED [GARD:0006206]
synonym: "craniofacial dysostosis" EXACT [DOID:2339]
synonym: "craniofacial dysostosis type 1" RELATED [GARD:0006206]
synonym: "craniofacial dysostosis, type 1" RELATED [OMIM:123500]
synonym: "Crouzon craniofacial dysostosis" EXACT [OMIM:123500, Orphanet:207]
synonym: "Crouzon disease" RELATED [GARD:0006206]
synonym: "Crouzon syndrome" EXACT [OMIM:123500]
synonym: "Crouzon's disease" RELATED [CSP2005:0725-9662, DOID:2339]
xref: DOID:2339 {source="MONDO:equivalentTo"}
xref: GARD:0006206 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.1 {source="Orphanet:207", source="ORDO:207/inclusion", source="ORDO:207/ntbt", source="DOID:2339"}
xref: MESH:D003394 {source="MONDO:equivalentTo", source="DOID:2339", source="MONDO:ontobio"}
xref: NCIT:C84653 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2339"}
xref: OMIM:123500 {source="ORDO:207/e", source="Orphanet:207", source="MONDO:equivalentTo", source="DOID:2339"}
xref: Orphanet:207 {source="MONDO:equivalentTo", source="OMIM:123500"}
xref: SCTID:28861008 {source="MONDO:kboom-pr-0.77/0.42/0.59", source="MONDO:equivalentTo", source="DOID:2339"}
xref: UMLS:CN200892 {source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:207"} ! syndromic craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:207"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010273
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931196
property_value: exactMatch DOID:2339
property_value: exactMatch http://identifiers.org/mesh/D003394
property_value: exactMatch http://identifiers.org/omim/123500
property_value: exactMatch http://identifiers.org/snomedct/28861008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200892
property_value: exactMatch NCIT:C84653
property_value: exactMatch Orphanet:207
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome xsd:anyURI {source="GARD:0006206"}

[Term]
id: MONDO:0007406
name: cryofibrinogenemia, familial primary
synonym: "cryofibrinogenemia, familial primary" EXACT [OMIM:123540]
xref: MESH:C565142 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123540 {source="MONDO:equivalentTo"}
xref: UMLS:C1852457 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123540"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0022904 ! cryofibrinogenemia
property_value: exactMatch http://identifiers.org/mesh/C565142
property_value: exactMatch http://identifiers.org/omim/123540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852457

[Term]
id: MONDO:0007407
name: Cryoglobulinemic vasculitis
def: "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." [Orphanet:91138]
subset: ordo_disease {source="Orphanet:91138"}
synonym: "cryoglobulinemia, familial mixed" RELATED [OMIM:123550]
synonym: "essential cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "essential mixed cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "familial mixed cryoglobulinemia" RELATED [GARD:0006386]
synonym: "MC" EXACT [Orphanet:91138]
synonym: "Meltzer syndrome" RELATED [OMIM:123550]
synonym: "mixed cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "primary cryoglobulinemia" EXACT [Orphanet:91138]
xref: GARD:0006386 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D89.1 {source="MONDO:relatedTo", source="ORDO:91138/ntbt", source="Orphanet:91138"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027756 {source="ORDO:91138/e", source="Orphanet:91138"}
xref: MESH:C565141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123550 {source="MONDO:equivalentTo", source="ORDO:91138/e", source="Orphanet:91138"}
xref: Orphanet:91138 {source="OMIM:123550", source="MONDO:equivalentTo"}
xref: SCTID:190815001 {source="MONDO:kboom-pr-0.90/0.76/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C0272258 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0340992 {source="MONDO:equivalentTo", source="Orphanet:91138"}
xref: UMLS:C0343208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:91138"}
xref: UMLS:C1852456 {source="MEDGEN:kboom-pr98-c99", source="OMIM:123550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91138"}
is_a: MONDO:0015491 {source="Orphanet:91138"} ! immune complex mediated vasculitis
is_a: MONDO:0016177 {source="Orphanet:91138"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
is_a: MONDO:0017038 {source="Orphanet:91138"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
is_a: MONDO:0019724 {source="Orphanet:91138"} ! secondary glomerular disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/meddra/10027756
property_value: exactMatch http://identifiers.org/mesh/C565141
property_value: exactMatch http://identifiers.org/omim/123550
property_value: exactMatch http://identifiers.org/snomedct/190815001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852456
property_value: exactMatch Orphanet:91138

[Term]
id: MONDO:0007408
name: cryptotia, familial
synonym: "cryptotia, familial" EXACT [OMIM:123557]
xref: MESH:C565140 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123557 {source="MONDO:equivalentTo"}
xref: UMLS:C1852455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123557"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565140
property_value: exactMatch http://identifiers.org/omim/123557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852455

[Term]
id: MONDO:0007409
name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome
def: "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." [Orphanet:1547]
subset: ordo_malformation_syndrome {source="Orphanet:1547"}
synonym: "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" RELATED [GARD:0008174]
synonym: "Cryptomicrotia brachydactyly syndrome" RELATED [GARD:0008174]
synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" RELATED [GARD:0008174]
synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [OMIM:123560]
synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547]
synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174]
synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547]
xref: GARD:0008174 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1547/attributed", source="ORDO:1547/ntbt", source="Orphanet:1547"}
xref: MESH:C536219 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="ORDO:1547/e"}
xref: Orphanet:1547 {source="OMIM:123560", source="MONDO:equivalentTo"}
xref: SCTID:725096002 {source="MONDO:equivalentTo"}
xref: UMLS:C1852454 {source="NCBI:mim2gene_medline", source="OMIM:123560", source="MONDO:equivalentTo", source="Orphanet:1547"}
is_a: MONDO:0043008 {source="Orphanet:1547"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536219
property_value: exactMatch http://identifiers.org/omim/123560
property_value: exactMatch http://identifiers.org/snomedct/725096002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852454
property_value: exactMatch Orphanet:1547

[Term]
id: MONDO:0007410
name: isolated cryptophthalmia
def: "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." [Orphanet:91396]
subset: ordo_morphological_anomaly {source="Orphanet:91396"}
synonym: "ankyloblepharon, simple" RELATED [OMIM:123570]
synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM:123570]
synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570]
synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q11.2 {source="Orphanet:91396", source="ORDO:91396/inclusion", source="ORDO:91396/ntbt"}
xref: MESH:C565138 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123570 {source="ORDO:91396/e", source="Orphanet:91396", source="MONDO:equivalentTo"}
xref: Orphanet:91396 {source="OMIM:123570", source="MONDO:equivalentTo"}
xref: SCTID:718691008 {source="MONDO:kboom-pr-1.00/0.80/9.27", source="MONDO:equivalentTo"}
xref: UMLS:C1852453 {source="OMIM:123570", source="NCBI:mim2gene_medline", source="Orphanet:91396", source="MONDO:equivalentTo"}
is_a: MONDO:0015217 {source="Orphanet:91396"} ! non-syndromic developmental defect of the eye
is_a: MONDO:0020153 {source="MONDO:Redundant", source="Orphanet:91396", source="linkedlifedata"} ! cryptophthalmia
intersection_of: MONDO:0020153 ! cryptophthalmia
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311249
property_value: exactMatch http://identifiers.org/mesh/C565138
property_value: exactMatch http://identifiers.org/omim/123570
property_value: exactMatch http://identifiers.org/snomedct/718691008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852453
property_value: exactMatch Orphanet:91396

[Term]
id: MONDO:0007411
name: cutis laxa, autosomal dominant 1
def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCL1" EXACT [DOID:0070130, MONDO:Lexical, OMIM:123700]
synonym: "autosomal dominant cutis laxa 1" RELATED [DOID:0070130]
synonym: "autosomal dominant cutis laxa caused by mutation in ELN" EXACT [MONDO:design_pattern]
synonym: "cutis laxa, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:123700]
synonym: "cutis laxa, autosomal dominant 1; ADCL1" RELATED [OMIM:123700]
synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:123700]
synonym: "ELN autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070130 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070130"}
xref: OMIM:123700 {source="DOID:0070130", source="MONDO:equivalentTo"}
xref: UMLS:C3276539 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123700"}
is_a: MONDO:0019571 {source="DOID:0070130", source="MONDO:Redundant", source="MONDOLEX:0007411", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa
property_value: exactMatch DOID:0070130
property_value: exactMatch http://identifiers.org/omim/123700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276539

[Term]
id: MONDO:0007412
name: Beare-Stevenson cutis gyrata syndrome
def: "Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis (see this term), characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia (see these terms). Additional features include facial features similar to Crouzon disease (see this term), ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." [Orphanet:1555]
subset: gard_rare {source="GARD:0000332"}
subset: ordo_malformation_syndrome {source="Orphanet:1555"}
synonym: "Beare Stevenson syndrome" RELATED [GARD:0000332]
synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [MONDO:Lexical, OMIM:123790, Orphanet:1555]
synonym: "Beare-Stevenson cutis gyrata syndrome; BSTVS" RELATED [OMIM:123790]
synonym: "Beare-Stevenson syndrome" RELATED [OMIM:123790]
synonym: "BSTVS" RELATED [MONDO:Lexical, OMIM:123790]
synonym: "cutis gyrata - acanthosis nigricans - craniosynostosis" RELATED [GARD:0000332]
synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790]
synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332]
xref: DOID:0050660 {source="MONDO:equivalentTo"}
xref: GARD:0000332 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1555/attributed", source="ORDO:1555/ntbt", source="Orphanet:1555"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565129 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123813 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:123790 {source="DOID:0050660", source="ORDO:1555/e", source="MONDO:equivalentTo", source="Orphanet:1555"}
xref: Orphanet:1555 {source="OMIM:123790", source="MONDO:equivalentTo"}
xref: SCTID:703528008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.15"}
xref: UMLS:C1852406 {source="NCIT:C123813", source="OMIM:123790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1555"}
is_a: MONDO:0000426 {source="DOID:0050660", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015338 {source="Orphanet:1555"} ! syndromic craniosynostosis
is_a: MONDO:0018798 {source="Orphanet:1555"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:1555"} ! dermis disease
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1555"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0050660
property_value: exactMatch http://identifiers.org/mesh/C565129
property_value: exactMatch http://identifiers.org/omim/123790
property_value: exactMatch http://identifiers.org/snomedct/703528008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852406
property_value: exactMatch NCIT:C123813
property_value: exactMatch Orphanet:1555
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome xsd:anyURI {source="GARD:0000332"}

[Term]
id: MONDO:0007413
name: Cyprus facial-neuromusculoskeletal syndrome
def: "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." [Orphanet:2674]
subset: gard_rare {source="GARD:0009487"}
subset: ordo_malformation_syndrome {source="Orphanet:2674"}
synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853]
synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487]
xref: GARD:0009487 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2674", source="ORDO:2674/attributed", source="ORDO:2674/ntbt"}
xref: MESH:C536229 {source="Orphanet:2674", source="ORDO:2674/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:123853 {source="Orphanet:2674", source="ORDO:2674/e", source="MONDO:equivalentTo"}
xref: Orphanet:2674 {source="MONDO:equivalentTo", source="OMIM:123853"}
xref: SCTID:732261005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852396 {source="Orphanet:2674", source="ORDO:2674/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123853"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0020120 {source="Orphanet:2674", source="Orphanet:2674/inferred"} ! skeletal muscle disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0043008 {source="Orphanet:2674"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536229
property_value: exactMatch http://identifiers.org/omim/123853
property_value: exactMatch http://identifiers.org/snomedct/732261005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852396
property_value: exactMatch Orphanet:2674
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome xsd:anyURI {source="GARD:0009487"}

[Term]
id: MONDO:0007414
name: Gorham-Stout disease
def: "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." [Orphanet:73]
subset: ordo_malformation_syndrome {source="Orphanet:73"}
synonym: "cystic angiomatosis of bone diffuse" RELATED [GARD:0006542]
synonym: "cystic angiomatosis of bone, diffuse" RELATED [OMIM:123880]
synonym: "Gorham disease" EXACT [Orphanet:73]
synonym: "Gorham syndrome" EXACT [Orphanet:73]
synonym: "Gorham-Stout disease" EXACT [OMIM:123880]
synonym: "idiopathic massive osteolysis" EXACT [Orphanet:73]
synonym: "osteolysis massive" RELATED [GARD:0006542]
synonym: "osteolysis, massive" RELATED [OMIM:123880]
synonym: "progressive massive osteolysis" EXACT [Orphanet:73]
synonym: "vanishing bone disease" EXACT [Orphanet:73]
xref: GARD:0006542 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M89.5 {source="ORDO:73/attributed", source="ORDO:73/ntbt", source="Orphanet:73"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071283 {source="ORDO:73/e", source="Orphanet:73"}
xref: OMIM:123880 {source="MONDO:equivalentTo", source="ORDO:73/e", source="Orphanet:73"}
xref: Orphanet:73 {source="OMIM:123880", source="MONDO:equivalentTo"}
xref: SCTID:1515008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.47/0.31"}
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0002013 {source="Orphanet:73"} ! lymphangioma
is_a: MONDO:0005554 {source="Orphanet:73"} ! rheumatologic disorder
is_a: MONDO:0016524 {source="Orphanet:73"} ! congenital vascular bone syndrome
is_a: MONDO:0024499 ! vascular bone neoplasm
property_value: exactMatch http://identifiers.org/meddra/10071283
property_value: exactMatch http://identifiers.org/omim/123880
property_value: exactMatch http://identifiers.org/snomedct/1515008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029438
property_value: exactMatch Orphanet:73

[Term]
id: MONDO:0007415
name: mitochondrial complex III deficiency nuclear type 1
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295]
synonym: "MC3DN1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [OMIM:124000]
synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295]
synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000]
synonym: "mitochondrial complex III deficiency, nuclear type 1; MC3DN1" RELATED [OMIM:124000]
xref: DOID:0080111 {source="MONDO:equivalentTo"}
xref: GARD:0008295 {source="MONDO:equivalentTo"}
xref: MESH:C565128 {source="MONDO:equivalentTo"}
xref: OMIM:124000 {source="DOID:0080111", source="GARD:0008295", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852372
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3541471
property_value: exactMatch DOID:0080111
property_value: exactMatch http://identifiers.org/mesh/C565128
property_value: exactMatch http://identifiers.org/omim/124000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency xsd:anyURI {source="GARD:0008295"}

[Term]
id: MONDO:0007416
name: Balkan nephropathy
def: "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." [NCIT:P378]
synonym: "AAN" RELATED [GARD:0008576]
synonym: "aristolochic acid nephropathy" EXACT [NCIT:C123025]
synonym: "Balkan endemic nephropathy" EXACT [DOID:3052]
synonym: "Balkan endemic nephropathy" RELATED [OMIM:124100]
synonym: "BEN" RELATED [GARD:0008576]
synonym: "Chinese herb endemic nephropathy" EXACT [NCIT:C123025]
synonym: "Danubian endemic familial nephropathy" EXACT [DOID:3052, OMIM:124100]
synonym: "DEFN" RELATED [DOID:3052, OMIM:124100]
synonym: "endemic nephropathy" EXACT [NCIT:C123025]
synonym: "nephropathia epidemica" RELATED [OMIM:124100]
xref: DOID:3052 {source="MONDO:equivalentTo", source="EFO:0007164"}
xref: EFO:0007164 {source="MONDO:equivalentTo"}
xref: GARD:0008576 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:N15.0 {source="MONDO:equivalentTo", source="DOID:3052"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001449 {source="MONDO:equivalentTo", source="EFO:0007164", source="DOID:3052"}
xref: NCIT:C123025 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:124100 {source="MONDO:equivalentTo", source="DOID:3052"}
xref: SCTID:26121002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3052"}
xref: UMLS:C0004698 {source="OMIM:124100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C123025", source="DOID:3052"}
xref: UMLS:C4049993 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0001085 {source="DOID:3052", source="MESH:D001449", source="linkedlifedata", source="linkedlifedata/inferred"} ! interstitial nephritis
is_a: MONDO:0005334 ! hereditary nephritis
property_value: closeMatch http://identifiers.org/snomedct/197748005
property_value: exactMatch DOID:3052
property_value: exactMatch http://identifiers.org/mesh/D001449
property_value: exactMatch http://identifiers.org/omim/124100
property_value: exactMatch http://identifiers.org/snomedct/26121002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049993
property_value: exactMatch NCIT:C123025
property_value: exactMatch NCIT:C84584

[Term]
id: MONDO:0007417
name: Darier disease
def: "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." [Orphanet:218]
subset: ordo_disease {source="Orphanet:218"}
synonym: "DAR" RELATED [MONDO:Lexical, OMIM:124200]
synonym: "Darier disease" EXACT [OMIM:124200]
synonym: "Darier disease, acral hemorrhagic type" RELATED [OMIM:124200]
synonym: "Darier disease, segmental" RELATED [OMIM:124200]
synonym: "Darier White disease" RELATED [GARD:0006243]
synonym: "Darier's disease" EXACT [CSP2005:0726-9627, doi:10.1093/jama/9780195176339.003.0016, DOID:2734, MONDO:LexicalVariant, SCTID:268355000]
synonym: "Darier-White disease" EXACT [DOID:2734, MONDO:Lexical, OMIM:124200, Orphanet:218]
synonym: "Darier-White disease; dar" RELATED [OMIM:124200]
synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218]
xref: DOID:2734 {source="MONDO:equivalentTo"}
xref: GARD:0006243 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E50.8 {source="DOID:2734"}
xref: ICD10:Q82.8 {source="Orphanet:218", source="ORDO:218/inclusion", source="ORDO:218/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10023369 {source="ORDO:218/e", source="Orphanet:218"}
xref: NCIT:C84665 {source="MONDO:equivalentTo", source="DOID:2734", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:124200 {source="ORDO:218/e", source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734"}
xref: Orphanet:218 {source="MONDO:equivalentTo", source="OMIM:124200"}
xref: SCTID:48611009 {source="MONDO:equivalentTo", source="DOID:2734", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022595 {source="ORDO:218/e", source="Orphanet:218", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124200", source="DOID:2734", source="NCIT:C84665"}
xref: Wikipedia:Darier%27s_disease
is_a: MONDO:0019274 {source="Orphanet:218"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:218"} ! other genetic epidermal disease
property_value: closeMatch http://identifiers.org/snomedct/157017000
property_value: closeMatch http://identifiers.org/snomedct/205582000
property_value: closeMatch http://identifiers.org/snomedct/240633005
property_value: closeMatch http://identifiers.org/snomedct/268355000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852296
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852297
property_value: exactMatch DOID:2734
property_value: exactMatch http://identifiers.org/meddra/10023369
property_value: exactMatch http://identifiers.org/mesh/D007644
property_value: exactMatch http://identifiers.org/omim/124200
property_value: exactMatch http://identifiers.org/snomedct/48611009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022595
property_value: exactMatch NCIT:C84665
property_value: exactMatch Orphanet:218

[Term]
id: MONDO:0007418
name: Darwinian tubercle of pinna
comment: Editor notes: OMIM treats this as two diseases
subset: merged_class
synonym: "Darwinian Notch" RELATED [OMIM:124300]
synonym: "Darwinian point of Pinna" RELATED [OMIM:124300]
synonym: "Darwinian tubercle of pinna" EXACT [OMIM:124300, OMIM:124400]
xref: OMIM:124300 {source="MONDO:equivalentTo"}
xref: OMIM:124400 {source="MONDO:equivalentTo"}
xref: UMLS:C2751189 {source="MONDO:equivalentTo", source="OMIM:124300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852294
property_value: exactMatch http://identifiers.org/omim/124300
property_value: exactMatch http://identifiers.org/omim/124400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751189

[Term]
id: MONDO:0007419
name: obsolete Darwinian tubercle of pinna
is_obsolete: true
replaced_by: MONDO:0007418

[Term]
id: MONDO:0007420
name: autosomal dominant deafness - onychodystrophy syndrome
def: "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." [Orphanet:79499]
subset: gard_rare {source="GARD:0004732"}
subset: ordo_malformation_syndrome {source="Orphanet:79499"}
synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT []
synonym: "DDOD" RELATED [MONDO:Lexical, OMIM:124480]
synonym: "DDOD syndrome" EXACT [Orphanet:79499]
synonym: "Ddod syndrome" RELATED [OMIM:124480]
synonym: "deafness and onychodystrophy, dominant form" RELATED [GARD:0004732]
synonym: "deafness, congenital, and onychodystrophy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:124480]
synonym: "deafness, congenital, and onychodystrophy, autosomal dominant; DDOD" RELATED [OMIM:124480]
synonym: "deafness, congenital, with onychodystrophy, autosomal dominant" RELATED [OMIM:124480]
synonym: "deafness, congenital, with onychodystrophy, autosomal dominant; DDOD" RELATED [OMIM:124480]
synonym: "deafness-onychodystrophy syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" RELATED [GARD:0004732]
synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732]
synonym: "Robinson-Miller-Bensimon syndrome" RELATED [GARD:0004732]
xref: GARD:0004732 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:79499/attributed", source="ORDO:79499/ntbt", source="Orphanet:79499"}
xref: OMIM:124480 {source="MONDO:equivalentTo", source="ORDO:79499/e", source="Orphanet:79499"}
xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"}
xref: UMLS:C2675730 {source="OMIM:124480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94", source="Orphanet:79499"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017922 {source="MONDO:Redundant", source="Orphanet:79499"} ! deafness-onychodystrophy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931049
property_value: exactMatch http://identifiers.org/omim/124480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675730
property_value: exactMatch Orphanet:79499
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome xsd:anyURI {source="GARD:0004732"}

[Term]
id: MONDO:0007421
name: deafness-ear malformation-facial palsy syndrome
def: "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." [Orphanet:3232]
subset: ordo_malformation_syndrome {source="Orphanet:3232"}
synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490]
synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232]
xref: ICD10:Q87.0 {source="Orphanet:3232", source="ORDO:3232/attributed", source="ORDO:3232/ntbt"}
xref: MESH:C565123 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="ORDO:3232/e"}
xref: Orphanet:3232 {source="MONDO:equivalentTo", source="OMIM:124490"}
xref: SCTID:716243005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0019589 {source="Orphanet:3232"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852292
property_value: exactMatch http://identifiers.org/mesh/C565123
property_value: exactMatch http://identifiers.org/omim/124490
property_value: exactMatch http://identifiers.org/snomedct/716243005
property_value: exactMatch Orphanet:3232

[Term]
id: MONDO:0007422
name: keratoderma hereditarium mutilans
subset: ordo_disease {source="Orphanet:494"}
synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [OMIM:124500]
synonym: "keratoderma hereditarium mutilans" EXACT [OMIM:124500]
synonym: "KHM" RELATED [GARD:0003092]
synonym: "mutilating keratoderma" RELATED [OMIM:124500]
synonym: "mutilating keratoderma of Vohwinkel" EXACT [Orphanet:494]
synonym: "mutilating keratoderma plus deafness" EXACT [Orphanet:494]
synonym: "PPK mutilans and deafness" EXACT [Orphanet:494]
synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494]
synonym: "Vohwinkel syndrome; VOWNKL" RELATED [OMIM:124500]
synonym: "VOWNKL" RELATED [OMIM:124500]
xref: GARD:0003092 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="ORDO:494/attributed", source="ORDO:494/ntbt", source="Orphanet:494"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536457 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:124500 {source="MONDO:equivalentTo", source="ORDO:494/e", source="Orphanet:494"}
xref: Orphanet:494 {source="MONDO:equivalentTo", source="OMIM:124500"}
xref: SCTID:24559001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.33"}
is_a: MONDO:0017670 {source="Orphanet:494"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma
is_a: MONDO:0019589 {source="Orphanet:494"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C536457
property_value: exactMatch http://identifiers.org/omim/124500
property_value: exactMatch http://identifiers.org/snomedct/24559001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265964
property_value: exactMatch Orphanet:494

[Term]
id: MONDO:0007423
name: deafness, mid-tone neural
synonym: "deafness, mid-tone neural" EXACT [OMIM:124700]
xref: MESH:C565122 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:124700 {source="MONDO:equivalentTo"}
xref: UMLS:C1852283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565122
property_value: exactMatch http://identifiers.org/omim/124700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852283

[Term]
id: MONDO:0007424
name: autosomal dominant nonsyndromic deafness 1
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 1" EXACT [DOID:0110541]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 1" EXACT [DOID:0110541, MONDORULE:1]
synonym: "deafness, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:124900]
synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" RELATED [OMIM:124900]
synonym: "deafness, autosomal dominant 1; DFNA1" RELATED [OMIM:124900]
synonym: "deafness, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:124900]
synonym: "deafness, progressive Low tone" RELATED [OMIM:124900]
synonym: "DFNA1" EXACT [DOID:0110541, MONDO:Lexical, OMIM:124900]
synonym: "DIAPH1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary Low frequency hearing loss" RELATED [OMIM:124900]
synonym: "hereditary low frequency hearing loss 1" EXACT [DOID:0110541]
synonym: "Konigsmark syndrome" EXACT [DOID:0110541, OMIM:124900]
synonym: "LFHL1" EXACT [DOID:0110541]
xref: DOID:0110541 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110541"}
xref: MESH:C565121 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:124900 {source="MONDO:equivalentTo", source="DOID:0110541"}
xref: UMLS:C1852282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124900"}
is_a: MONDO:0019587 {source="DC-OMIM:124900", source="DOID:0110541", source="MONDO:Redundant", source="OMIM:124900"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110541
property_value: exactMatch http://identifiers.org/mesh/C565121
property_value: exactMatch http://identifiers.org/omim/124900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852282

[Term]
id: MONDO:0007425
name: deafness, sensorineural, with peripheral neuropathy and arterial disease
synonym: "deafness, sensorineural, with peripheral neuropathy and arterial disease" EXACT [OMIM:124950]
xref: MESH:C565120 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:124950 {source="MONDO:equivalentTo"}
xref: UMLS:C1852280 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124950"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565120
property_value: exactMatch http://identifiers.org/omim/124950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852280

[Term]
id: MONDO:0007426
name: deafness, unilateral
synonym: "deafness, unilateral" EXACT [OMIM:125000]
xref: MESH:C567079 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125000 {source="MONDO:equivalentTo"}
xref: UMLS:C2607947 {source="OMIM:125000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567079
property_value: exactMatch http://identifiers.org/omim/125000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607947

[Term]
id: MONDO:0007427
name: deafness with anhidrotic ectodermal dysplasia
synonym: "deafness with anhidrotic ectodermal dysplasia" EXACT [OMIM:125050]
xref: MESH:C565119 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125050 {source="MONDO:equivalentTo"}
xref: UMLS:C1852279 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125050"}
is_a: MONDO:0003847 {source="MESH:C565119/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565119
property_value: exactMatch http://identifiers.org/omim/125050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852279

[Term]
id: MONDO:0007428
name: deafness-craniofacial syndrome
def: "Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." [Orphanet:3241]
subset: gard_rare {source="GARD:0001686"}
subset: ordo_malformation_syndrome {source="Orphanet:3241"}
synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686]
synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230]
xref: GARD:0001686 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:3241/attributed", source="ORDO:3241/ntbt", source="Orphanet:3241"}
xref: MESH:C565118 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125230 {source="MONDO:equivalentTo", source="ORDO:3241/e", source="Orphanet:3241"}
xref: Orphanet:3241 {source="OMIM:125230", source="MONDO:equivalentTo"}
xref: SCTID:716245003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C1852278 {source="OMIM:125230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3241"}
is_a: MONDO:0019589 {source="Orphanet:3241"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3241"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565118
property_value: exactMatch http://identifiers.org/omim/125230
property_value: exactMatch http://identifiers.org/snomedct/716245003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852278
property_value: exactMatch Orphanet:3241
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome xsd:anyURI {source="GARD:0001686"}

[Term]
id: MONDO:0007429
name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
synonym: "dominant optic atrophy plus syndrome" RELATED [OMIM:125250]
synonym: "optic atrophy 1 and deafness" RELATED [GARD:0009897]
synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [OMIM:125250]
xref: GARD:0009897 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:125250 {source="MONDO:equivalentTo"}
xref: Orphanet:3212 {source="OMIM:125250", source="MONDO:obsoleteEquivalent"}
xref: UMLS:C3276549 {source="OMIM:125250", source="MONDO:equivalentTo"}
is_a: MONDO:0014720 {source="ORDO:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome
property_value: exactMatch http://identifiers.org/omim/125250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276549
property_value: exactMatch Orphanet:3212

[Term]
id: MONDO:0007430
name: dens evaginatus
synonym: "dens evaginatus" EXACT [OMIM:125280]
xref: OMIM:125280 {source="MONDO:equivalentTo"}
xref: SCTID:63691004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266034
property_value: exactMatch http://identifiers.org/omim/125280
property_value: exactMatch http://identifiers.org/snomedct/63691004

[Term]
id: MONDO:0007431
name: dens in dente and palatal invaginations
synonym: "dens in dente and palatal INVAGINATIONS" RELATED [OMIM:125300]
xref: GARD:0010069 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538211 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125300 {source="MONDO:equivalentTo"}
xref: UMLS:C1852250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538211
property_value: exactMatch http://identifiers.org/omim/125300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852250

[Term]
id: MONDO:0007432
name: CADASIL
def: "CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." [Orphanet:136]
subset: ordo_disease {source="Orphanet:136"}
subset: prototype_pattern
synonym: "CADASIL" EXACT [MONDO:Lexical, OMIM:125310]
synonym: "CADASIL syndrome" EXACT [NCIT:C84606]
synonym: "Casil" RELATED [OMIM:125310]
synonym: "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy" EXACT [OMIMPS:125310]
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" RELATED [GARD:0001049]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:125310]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL" RELATED [OMIM:125310]
synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [DOID:13945, Orphanet:136]
synonym: "dementia, hereditary multi-infarct type" RELATED [OMIM:125310]
synonym: "familial vascular leukoencephalopathy" RELATED [GARD:0001049]
synonym: "hereditary multi-infarct dementia" EXACT [DOID:13945, Orphanet:136]
xref: DOID:13945 {source="MONDO:equivalentTo"}
xref: GARD:0001049 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:F01.1 {source="Orphanet:136", source="DOID:13945", source="ORDO:136/attributed", source="ORDO:136/ntbt"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10065551 {source="Orphanet:136", source="ORDO:136/e"}
xref: MESH:D046589 {source="Orphanet:136", source="DOID:13945", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:136/e"}
xref: NCIT:C84606 {source="DOID:13945", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.45"}
xref: OMIMPS:125310 {source="MONDO:equivalentTo"}
xref: Orphanet:136 {source="DOID:13945", source="OMIM:125310", source="MONDO:equivalentTo"}
xref: SCTID:390936003 {source="DOID:13945", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.41"}
xref: UMLS:C0751587 {source="Orphanet:136", source="DOID:13945", source="OMIM:125310", source="MONDO:equivalentTo", source="NCIT:C84606", source="ORDO:136/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0007432", source="NCIT:C84606"} ! syndromic disease
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:136", source="Orphanet:136/inferred"} ! genetic dementia
is_a: MONDO:0018787 {source="Orphanet:136"} ! genetic cerebral small vessel disease
is_a: MONDO:0020144 {source="Orphanet:136"} ! cerebrovascular dementia
is_a: MONDO:0020262 {source="Orphanet:136"} ! nervous system anomaly with eye involvement
relationship: excluded_subClassOf MONDO:0019046 {source="DOID:13945"} ! leukodystrophy
property_value: closeMatch http://identifiers.org/snomedct/390723008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1272305
property_value: exactMatch DOID:13945
property_value: exactMatch http://identifiers.org/meddra/10065551
property_value: exactMatch http://identifiers.org/mesh/D046589
property_value: exactMatch http://identifiers.org/snomedct/390936003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751587
property_value: exactMatch NCIT:C84606
property_value: exactMatch Orphanet:136

[Term]
id: MONDO:0007433
name: dementia/parkinsonism with non-Alzheimer amyloid plaques
synonym: "dementia/parkinsonism with non-Alzheimer amyloid plaques" EXACT [OMIM:125320]
xref: MESH:C565115 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125320 {source="MONDO:equivalentTo"}
xref: UMLS:C1852223 {source="NCBI:mim2gene_medline", source="OMIM:125320", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565115
property_value: exactMatch http://identifiers.org/omim/125320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852223

[Term]
id: MONDO:0007434
name: primary failure of tooth eruption
subset: ordo_disease {source="Orphanet:412206"}
synonym: "dental noneruption" RELATED [OMIM:125350]
synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical, OMIM:125350]
synonym: "failure of tooth eruption, primary; PFE" RELATED [OMIM:125350]
synonym: "PFE" EXACT [MONDO:Lexical, OMIM:125350, Orphanet:412206]
synonym: "posterior Openbite malocclusion, familial" RELATED [OMIM:125350]
synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350]
synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206]
synonym: "unerupted second primary molar" RELATED [OMIM:125350]
xref: ICD10:K00.8 {source="Orphanet:412206", source="ORDO:412206/attributed", source="ORDO:412206/ntbt"}
xref: MESH:C565114 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125350 {source="Orphanet:412206", source="ORDO:412206/e", source="MONDO:equivalentTo"}
xref: Orphanet:412206 {source="OMIM:125350", source="MONDO:equivalentTo"}
xref: UMLS:C1852222 {source="OMIM:125350", source="MEDGEN:kboom-pr98-c99", source="Orphanet:412206", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:412206"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:412206"} ! rare genetic odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/mesh/C565114
property_value: exactMatch http://identifiers.org/omim/125350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852222
property_value: exactMatch Orphanet:412206

[Term]
id: MONDO:0007435
name: dentatorubral-pallidoluysian atrophy
def: "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." [Orphanet:101]
subset: gard_rare {source="GARD:0005643"}
subset: ordo_disease {source="Orphanet:101"}
synonym: "ataxia, chorea, seizures, and dementia" RELATED [OMIM:125370]
synonym: "dentatorubral pallidoluysian atrophy" RELATED [Orphanet:101]
synonym: "dentatorubral-pallidoluysian atrophy" EXACT [MONDO:Lexical, OMIM:125370]
synonym: "dentatorubral-pallidoluysian atrophy; DRPLA" RELATED [OMIM:125370]
synonym: "Dentatorubropallidoluysian atrophy" EXACT [Orphanet:101]
synonym: "DRPLA" EXACT [DOID:0060162, Orphanet:101]
synonym: "DRPLA" RELATED [MONDO:Lexical, OMIM:125370]
synonym: "haw River syndrome" EXACT [DOID:0060162, OMIM:125370]
synonym: "myoclonic epilepsy with choreoathetosis" RELATED [OMIM:125370]
synonym: "Naito Oyanagi disease" RELATED [GARD:0005643]
synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101]
synonym: "NOD" RELATED [GARD:0005643]
xref: DOID:0060162 {source="MONDO:equivalentTo"}
xref: GARD:0005643 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:101/attributed", source="ORDO:101/ntbt", source="Orphanet:101"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C122653 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0060162"}
xref: OMIM:125370 {source="MONDO:equivalentTo", source="ORDO:101/e", source="DOID:0060162", source="Orphanet:101"}
xref: Orphanet:101 {source="MONDO:equivalentTo", source="OMIM:125370"}
xref: SCTID:68116008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83", source="DOID:0060162"}
xref: UMLS:C0751781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122653", source="ORDO:101/e", source="OMIM:125370", source="DOID:0060162", source="Orphanet:101"}
is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome
is_a: MONDO:0019794 {source="Orphanet:101"} ! autosomal dominant cerebellar ataxia type IV
property_value: closeMatch http://identifiers.org/snomedct/192844008
property_value: closeMatch http://identifiers.org/snomedct/702422004
property_value: closeMatch http://identifiers.org/snomedct/89480000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751776
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751777
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751779
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751780
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751782
property_value: exactMatch DOID:0060162
property_value: exactMatch http://identifiers.org/omim/125370
property_value: exactMatch http://identifiers.org/snomedct/68116008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751781
property_value: exactMatch NCIT:C122653
property_value: exactMatch Orphanet:101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy xsd:anyURI {source="GARD:0005643"}

[Term]
id: MONDO:0007436
name: dentin dysplasia type I
def: "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." [Orphanet:99789]
subset: gard_rare {source="GARD:0001807"}
subset: ordo_clinical_subtype {source="Orphanet:99789"}
synonym: "DD-I" EXACT [Orphanet:99789]
synonym: "dentin dysplasia, Shields type 1" RELATED [OMIM:125400]
synonym: "dentin dysplasia, type 1" RELATED [GARD:0001807]
synonym: "dentin dysplasia, type I" RELATED [MONDO:Lexical, OMIM:125400]
synonym: "dentin dysplasia, type I, with extreme microdontia and misshapen teeth" RELATED [OMIM:125400]
synonym: "dentin dysplasia, type I; DTDP1" RELATED [OMIM:125400]
synonym: "DTDP1" EXACT [MONDO:Lexical, OMIM:125400, Orphanet:99789]
synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789]
synonym: "rootless teeth" RELATED [OMIM:125400]
xref: GARD:0001807 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="Orphanet:99789", source="ORDO:99789/attributed", source="ORDO:99789/ntbt"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C531665 {source="MONDO:equivalentTo"}
xref: MESH:C538215 {source="ORDO:99789/e", source="Orphanet:99789", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125400 {source="MONDO:equivalentTo"}
xref: Orphanet:99789 {source="MONDO:equivalentTo", source="OMIM:125400"}
xref: SCTID:109493006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.46"}
xref: UMLS:C0399379 {source="ORDO:99789/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:99789", source="MONDO:equivalentTo", source="OMIM:125400"}
is_a: MONDO:0015613 {source="DC-OMIM:125400", source="MESH:C538215", source="Orphanet:99789", source="linkedlifedata"} ! dentin dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276551
property_value: exactMatch http://identifiers.org/mesh/C531665
property_value: exactMatch http://identifiers.org/mesh/C538215
property_value: exactMatch http://identifiers.org/omim/125400
property_value: exactMatch http://identifiers.org/snomedct/109493006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399379
property_value: exactMatch Orphanet:99789
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1 xsd:anyURI {source="GARD:0001807"}

[Term]
id: MONDO:0007437
name: dentin dysplasia type II
def: "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." [Orphanet:99791]
subset: ordo_clinical_subtype {source="Orphanet:99791"}
synonym: "anomalous dysplasia of dentin" RELATED [OMIM:125420]
synonym: "coronal dentin dysplasia" RELATED [OMIM:125420]
synonym: "DD-II" EXACT [Orphanet:99791]
synonym: "dentin dyspalsia, Shields type 2" RELATED [GARD:0001806]
synonym: "dentin dysplasia, coronal" RELATED [GARD:0001806]
synonym: "dentin dysplasia, Shields type 2" RELATED [OMIM:125420]
synonym: "dentin dysplasia, type 2" RELATED [OMIM:125420]
synonym: "dentin dysplasia, type II" RELATED [OMIM:125420]
synonym: "dentin dysplasia, type II; DTDP2" RELATED [OMIM:125420]
synonym: "DTDP2" EXACT [Orphanet:99791]
synonym: "Dtdp2" RELATED [OMIM:125420]
synonym: "pulp stones" RELATED [OMIM:125420]
synonym: "pulpal dysplasia" RELATED [OMIM:125420]
xref: GARD:0001806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K00.5 {source="ORDO:99791/attributed", source="ORDO:99791/ntbt", source="Orphanet:99791"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:125420 {source="MONDO:equivalentTo"}
xref: Orphanet:99791 {source="OMIM:125420", source="MONDO:equivalentTo"}
xref: SCTID:109494000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.80/0.44/0.91"}
is_a: MONDO:0015613 {source="DC-OMIM:125420", source="OMIM:125420", source="Orphanet:99791"} ! dentin dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399380
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527284
property_value: exactMatch http://identifiers.org/omim/125420
property_value: exactMatch http://identifiers.org/snomedct/109494000
property_value: exactMatch Orphanet:99791

[Term]
id: MONDO:0007438
name: dentin dysplasia-sclerotic bones syndrome
def: "Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." [Orphanet:99792]
subset: ordo_disease {source="Orphanet:99792"}
synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808]
synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440]
synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808]
xref: GARD:0001808 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K00.5 {source="ORDO:99792/attributed", source="ORDO:99792/ntbt", source="Orphanet:99792"}
xref: MESH:C538213 {source="MONDO:equivalentTo", source="ORDO:99792/e", source="MONDO:ontobio", source="Orphanet:99792"}
xref: OMIM:125440 {source="MONDO:equivalentTo", source="ORDO:99792/e", source="Orphanet:99792"}
xref: Orphanet:99792 {source="OMIM:125440", source="MONDO:equivalentTo"}
xref: UMLS:C1852201 {source="OMIM:125440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99792/e", source="Orphanet:99792"}
is_a: MONDO:0019183 {source="Orphanet:99792"} ! inherited odontologic disease
is_a: MONDO:0020014 {source="Orphanet:99792"} ! rare disease with odontological manifestation
property_value: exactMatch http://identifiers.org/mesh/C538213
property_value: exactMatch http://identifiers.org/omim/125440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852201
property_value: exactMatch Orphanet:99792

[Term]
id: MONDO:0007439
name: deoxyribose-5-phosphate aldolase deficiency
synonym: "deoxyribose-5-phosphate aldolase deficiency" EXACT [OMIM:125460]
xref: MESH:C565112 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125460 {source="MONDO:equivalentTo"}
xref: UMLS:C1852200 {source="OMIM:125460", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565112/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565112
property_value: exactMatch http://identifiers.org/omim/125460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852200

[Term]
id: MONDO:0007440
name: major affective disorder 1
synonym: "bipolar affective disorder" RELATED [OMIM:125480]
synonym: "MAFD1" EXACT [MONDO:Lexical, OMIM:125480]
synonym: "major affective disorder 1" RELATED [OMIM:125480]
synonym: "MAJOR affective disorder 1; MAFD1" RELATED [OMIM:125480]
synonym: "manic-depressive psychosis" RELATED [OMIM:125480]
synonym: "manic-depressive psychosis, autosomal" RELATED [OMIM:125480]
xref: DOID:0080220 {source="MONDO:equivalentTo"}
xref: OMIM:125480 {source="DOID:0080220", source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:125480", source="DOID:0080220/inferred", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0001866 {source="DOID:0080220"} ! bipolar I disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852197
property_value: exactMatch DOID:0080220
property_value: exactMatch http://identifiers.org/omim/125480

[Term]
id: MONDO:0007441
name: dentinogenesis imperfecta type 2
def: "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." [Orphanet:166260]
subset: ordo_clinical_subtype {source="Orphanet:166260"}
synonym: "Capdepont teeth" EXACT [OMIM:125490, Orphanet:166260]
synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical, OMIM:125490]
synonym: "dentinogenesis imperfecta 1; DGI1" RELATED [OMIM:125490]
synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:125490]
synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [OMIM:125490]
synonym: "dentinogenesis imperfecta, Shields type 2" EXACT [OMIM:125490, Orphanet:166260]
synonym: "DGI-2" EXACT [Orphanet:166260]
synonym: "DGI-II" RELATED [OMIM:125490]
synonym: "DGI1" RELATED [MONDO:Lexical, OMIM:125490]
synonym: "DI-2" EXACT [Orphanet:166260]
synonym: "opalescent dentin" RELATED [OMIM:125490]
synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490]
xref: GARD:0012796 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K00.5 {source="Orphanet:166260", source="ORDO:166260/attributed", source="ORDO:166260/ntbt"}
xref: OMIM:125490 {source="MONDO:equivalentTo", source="Orphanet:166260", source="ORDO:166260/e"}
xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"}
is_a: MONDO:0018849 {source="DC-OMIM:125490", source="Orphanet:166260"} ! dentinogenesis imperfecta (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205730
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2973527
property_value: exactMatch http://identifiers.org/omim/125490
property_value: exactMatch Orphanet:166260

[Term]
id: MONDO:0007442
name: dentinogenesis imperfecta type 3
def: "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." [Orphanet:166265]
subset: gard_rare {source="GARD:0010144"}
subset: ordo_clinical_subtype {source="Orphanet:166265"}
synonym: "brandywine type dentinogenesis imperfecta" RELATED [OMIM:125500]
synonym: "dentinogenesis imperfecta Shields type 3" RELATED [GARD:0010144]
synonym: "dentinogenesis imperfecta type III" RELATED [GARD:0010144]
synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265]
synonym: "dentinogenesis imperfecta, Shields type III" RELATED [OMIM:125500]
synonym: "DGI-III" RELATED [OMIM:125500]
xref: GARD:0010144 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="Orphanet:166265", source="ORDO:166265/attributed", source="ORDO:166265/ntbt"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538216 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125500 {source="ORDO:166265/e", source="Orphanet:166265", source="MONDO:equivalentTo"}
xref: Orphanet:166265 {source="MONDO:equivalentTo", source="OMIM:125500"}
xref: SCTID:234970006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0018849 {source="DC-OMIM:125500", source="MESH:C538216", source="Orphanet:166265", source="linkedlifedata"} ! dentinogenesis imperfecta (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399378
property_value: exactMatch http://identifiers.org/mesh/C538216
property_value: exactMatch http://identifiers.org/omim/125500
property_value: exactMatch http://identifiers.org/snomedct/234970006
property_value: exactMatch Orphanet:166265
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 xsd:anyURI {source="GARD:0010144"}

[Term]
id: MONDO:0007443
name: congenital unilateral hypoplasia of depressor anguli oris
def: "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." [Orphanet:1166]
comment: Editor note: TODO check relationship to 22q11.2 deletion syndrome
subset: ordo_morphological_anomaly {source="Orphanet:1166"}
synonym: "asymmetric crying facies" RELATED [OMIM:125520]
synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520]
synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520]
synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520]
synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166]
xref: ICD10:Q87.0 {source="Orphanet:1166", source="ORDO:1166/attributed", source="ORDO:1166/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:125520 {source="ORDO:1166/e", source="Orphanet:1166", source="MONDO:equivalentTo"}
xref: Orphanet:1166 {source="MONDO:equivalentTo", source="OMIM:125520"}
xref: SCTID:51409009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.88"}
is_a: MONDO:0018923 ! 22q11.2 deletion syndrome
property_value: exactMatch http://identifiers.org/mesh/C535349
property_value: exactMatch http://identifiers.org/omim/125520
property_value: exactMatch http://identifiers.org/snomedct/51409009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431406
property_value: exactMatch Orphanet:1166

[Term]
id: MONDO:0007444
name: dermal Ridges, patternless
synonym: "dermal Ridges, patternless" EXACT [OMIM:125540]
xref: MESH:C565109 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125540 {source="MONDO:equivalentTo"}
xref: UMLS:C1852160 {source="NCBI:mim2gene_medline", source="OMIM:125540", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565109
property_value: exactMatch http://identifiers.org/omim/125540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852160

[Term]
id: MONDO:0007445
name: dermatopathia pigmentosa reticularis
subset: gard_rare {source="GARD:0008550"}
subset: ordo_disease {source="Orphanet:86920"}
synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:125595]
synonym: "dermatopathia pigmentosa reticularis; DPR" RELATED [OMIM:125595]
synonym: "DPR" RELATED [MONDO:Lexical, OMIM:125595]
xref: GARD:0008550 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="Orphanet:86920", source="ORDO:86920/attributed", source="ORDO:86920/ntbt"}
xref: MESH:C535374 {source="ORDO:86920/e", source="Orphanet:86920", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125595 {source="ORDO:86920/e", source="Orphanet:86920", source="MONDO:equivalentTo"}
xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"}
xref: SCTID:239088003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:86920", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
is_a: MONDO:0020094 {source="Orphanet:86920"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535374
property_value: exactMatch http://identifiers.org/omim/125595
property_value: exactMatch http://identifiers.org/snomedct/239088003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406778
property_value: exactMatch Orphanet:86920
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis xsd:anyURI {source="GARD:0008550"}

[Term]
id: MONDO:0007446
name: dermatosis papulosa nigra
def: "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." [NCIT:P378]
synonym: "dermatosis papulosa nigra" EXACT [DOID:4400, OMIM:125600]
synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [DOID:4400]
xref: DOID:4400 {source="MONDO:equivalentTo", source="EFO:1000686"}
xref: EFO:1000686 {source="MONDO:equivalentTo"}
xref: ICD10:L82 {source="DOID:4400", source="MONDO:directSiblingOf"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562379 {source="DOID:4400", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2984 {source="DOID:4400", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:125600 {source="DOID:4400", source="MONDO:equivalentTo"}
xref: SCTID:254669003 {source="DOID:4400", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.84"}
xref: UMLS:C0011645 {source="DOID:4400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125600", source="NCIT:C2984"}
xref: Wikipedia:Dermatosis_papulosa_nigra {source="EFO:1000686"}
is_a: MONDO:0002406 {source="DOID:4400", source="NCIT:C2984"} ! dermatitis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/103672009
property_value: closeMatch http://identifiers.org/snomedct/25499005
property_value: exactMatch DOID:4400
property_value: exactMatch http://identifiers.org/mesh/C562379
property_value: exactMatch http://identifiers.org/omim/125600
property_value: exactMatch http://identifiers.org/snomedct/254669003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011645
property_value: exactMatch NCIT:C2984

[Term]
id: MONDO:0007447
name: autosomal dominant vibratory urticaria
def: "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242]
subset: ordo_disease
synonym: "DDU" RELATED [MONDO:Lexical, OMIM:125630]
synonym: "dermodistortive urticaria" RELATED [MONDO:Lexical, OMIM:125630]
synonym: "dermodistortive urticaria; DDU" RELATED [OMIM:125630]
synonym: "vibratory urticaria, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
synonym: "vibratory urticaria; VBU" RELATED [OMIM:125630]
xref: OMIM:125630 {source="Orphanet:493342", source="MONDO:equivalentTo"}
xref: Orphanet:493342 {source="MONDO:equivalentTo"}
xref: UMLS:C1852146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125630"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0006618 {source="MONDO:Redundant", source="MONDO:cjm"} ! vibratory urticaria
is_a: MONDO:0024255 ! genetic skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: exactMatch http://identifiers.org/omim/125630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852146
property_value: exactMatch Orphanet:493342

[Term]
id: MONDO:0007448
name: familial dermatographia
def: "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own." [GARD:0009480]
subset: gard_rare
synonym: "DDU" RELATED [MESH:C536612]
synonym: "dermatographia" RELATED [GARD:0009480]
synonym: "dermatographic urticaria" EXACT [DOID:743, ICD9CM_2006:708.3]
synonym: "Dermatographism, familial" RELATED [MESH:C536612, OMIM:125635]
synonym: "dermo-distortive urticaria" RELATED [GARD:0009480, MESH:C536612]
synonym: "Dermodistortive urticaria" RELATED [MESH:C536612]
synonym: "dermographism" EXACT [DOID:743, GARD:0009480]
synonym: "dermographism, familial" RELATED [MESH:C536612, OMIM:125635]
synonym: "familial dermatographism" RELATED [GARD:0009480, MESH:C536612]
synonym: "familial dermographism" RELATED [GARD:0009480]
synonym: "VBU" RELATED [MESH:C536612]
synonym: "vibratory angioedema" RELATED [MESH:C536612]
synonym: "vibratory urticaria" RELATED [MESH:C536612]
xref: COHD:132983 {source="MONDO:equivalentTo"}
xref: DOID:743 {source="EFO:1000685", source="MONDO:equivalentTo"}
xref: EFO:1000685 {source="MONDO:equivalentTo"}
xref: GARD:0009480 {source="MONDO:equivalentTo"}
xref: ICD10:L50.3 {source="DOID:743", source="MONDO:equivalentTo"}
xref: ICD9:708.3 {source="DOID:743", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C536612 {source="MONDO:equivalentTo"}
xref: OMIM:125635 {source="DOID:743", source="GARD:0009480", source="MONDO:equivalentTo"}
xref: SCTID:7632005 {source="DOID:743", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0006599 {source="DOID:743", source="EFO:1000685"} ! physical urticaria
property_value: closeMatch http://identifiers.org/snomedct/123093003
property_value: closeMatch http://identifiers.org/snomedct/156430003
property_value: closeMatch http://identifiers.org/snomedct/201263000
property_value: closeMatch http://identifiers.org/snomedct/201265007
property_value: closeMatch http://identifiers.org/snomedct/238685008
property_value: closeMatch http://identifiers.org/snomedct/247473009
property_value: closeMatch http://identifiers.org/snomedct/270885004
property_value: closeMatch http://identifiers.org/snomedct/402410006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343065
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852145
property_value: exactMatch DOID:743
property_value: exactMatch http://identifiers.org/mesh/C536612
property_value: exactMatch http://identifiers.org/omim/125635
property_value: exactMatch http://identifiers.org/snomedct/7632005
property_value: exactMatch NCIT:C111885
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism xsd:anyURI {source="GARD:0009480"}

[Term]
id: MONDO:0007449
name: dermo-odonto dysplasia
def: "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." [Orphanet:1660]
subset: ordo_malformation_syndrome {source="Orphanet:1660"}
synonym: "dermo odontodysplasia" RELATED []
synonym: "dermo-odonto dysplasia" EXACT []
synonym: "dermo-odonto-dysplasia" RELATED [GARD:0001816]
synonym: "dermoodonto dysplasia" RELATED []
synonym: "DERMOODONTODYSPLASIA" RELATED [OMIM:125640]
synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640]
xref: GARD:0001816 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="Orphanet:1660", source="ORDO:1660/attributed", source="ORDO:1660/ntbt"}
xref: MESH:C565103 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125640 {source="Orphanet:1660", source="ORDO:1660/e", source="MONDO:equivalentTo"}
xref: Orphanet:1660 {source="OMIM:125640", source="MONDO:equivalentTo"}
xref: SCTID:721091003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1852144 {source="Orphanet:1660", source="OMIM:125640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4303591 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:1660"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MONDOLEX:0007449", source="Orphanet:1660", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565103
property_value: exactMatch http://identifiers.org/omim/125640
property_value: exactMatch http://identifiers.org/snomedct/721091003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303591
property_value: exactMatch Orphanet:1660

[Term]
id: MONDO:0007450
name: neurohypophyseal diabetes insipidus
def: "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." [Orphanet:30925]
subset: ordo_clinical_subtype {source="Orphanet:30925"}
synonym: "ADH deficiency" EXACT [NCIT:C84933]
synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933]
synonym: "Arginine vasopressin deficiency" EXACT [NCIT:C84933]
synonym: "AVP deficiency" EXACT [NCIT:C84933]
synonym: "central diabetes insipidus" EXACT EXCLUDE [DOID:12388]
synonym: "diabetes insipidus of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "diabetes insipidus, cranial type" RELATED [OMIM:125700]
synonym: "diabetes insipidus, neurohypophyseal" RELATED [OMIM:125700]
synonym: "diabetes insipidus, primary central" RELATED [OMIM:125700]
synonym: "hereditary CDI" EXACT [Orphanet:30925]
synonym: "hereditary central diabetes insipidus" RELATED [Orphanet:30925]
synonym: "hereditary neurogenic diabetes insipidus" EXACT [Orphanet:30925]
synonym: "neurogenic diabetes insipidus" EXACT [NCIT:C84933]
synonym: "neurogenic diabetes insipidus" RELATED [NCIT:C84933]
synonym: "pituitary diabetes insipidus" EXACT [DOID:12388]
synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location]
synonym: "vasopressin defective diabetes insipidus" EXACT [CSP2005:1849-2602, DOID:12388]
synonym: "vasopressin deficiency" EXACT [DOID:12388]
xref: DOID:12388 {source="MONDO:equivalentTo"}
xref: ICD10:E23.2 {source="MONDO:subClassOf", source="ORDO:30925/e", source="Orphanet:30925", source="ORDO:30925/specific"}
xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: OMIM:125700 {source="MONDO:equivalentTo", source="ORDO:30925/e", source="Orphanet:30925", source="DOID:12388"}
xref: Orphanet:30925 {source="MONDO:equivalentTo", source="OMIM:125700"}
xref: SCTID:45369008 {source="MONDO:kboom-pr-0.94/0.76/1.62", source="MONDO:equivalentTo", source="DOID:12388"}
is_a: MONDO:0003381 {source="DOID:12388", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease
is_a: MONDO:0004782 {source="DC-OMIM:125700", source="DOID:12388", source="MONDO:Redundant", source="NCIT:C84933", source="linkedlifedata"} ! diabetes insipidus
is_a: MONDO:0015790 {source="Orphanet:30925"} ! central diabetes insipidus
property_value: closeMatch http://identifiers.org/snomedct/154699008
property_value: closeMatch http://identifiers.org/snomedct/190484000
property_value: closeMatch http://identifiers.org/snomedct/267393007
property_value: closeMatch http://identifiers.org/snomedct/64410003
property_value: exactMatch DOID:12388
property_value: exactMatch http://identifiers.org/omim/125700
property_value: exactMatch http://identifiers.org/snomedct/45369008
property_value: exactMatch NCIT:C84933
property_value: exactMatch Orphanet:30925

[Term]
id: MONDO:0007451
name: diabetes insipidus, nephrogenic, autosomal
synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [OMIM:125800]
synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [OMIM:125800]
xref: OMIM:125800 {source="MONDO:equivalentTo"}
xref: UMLS:C1563706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125800"}
is_a: MONDO:0016383 {source="ORDO:223/btnt"} ! nephrogenic diabetes insipidus
property_value: exactMatch http://identifiers.org/omim/125800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563706

[Term]
id: MONDO:0007452
name: maturity-onset diabetes of the young type 1
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." [NCIT:C129744]
subset: gard_rare {source="GARD:0003418"}
synonym: "diabetes mellitus MODY type 1" RELATED [GARD:0003418]
synonym: "diabetes mellitus type 2" EXACT [DOID:0111099]
synonym: "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes" EXACT [NCIT:C129744]
synonym: "HNF4A-associated monogenic diabetes" EXACT [NCIT:C129744]
synonym: "maturity onset diabetes of the Young, type 1" EXACT [NCIT:C129744]
synonym: "maturity-onset diabetes of the young, type 1" RELATED [GARD:0003418, MONDO:Lexical, OMIM:125850]
synonym: "maturity-onset diabetes of the young, type 1; MODY1" RELATED [OMIM:125850]
synonym: "mild juvenile diabetes mellitus" EXACT [DOID:0111099, OMIM:125850]
synonym: "MODY HNF4A related" RELATED [GARD:0003418]
synonym: "MODY type 1" EXACT [DOID:0111099]
synonym: "MODY, type 1" RELATED [OMIM:125850]
synonym: "MODY1" EXACT [DOID:0111099, MONDO:Lexical, OMIM:125850]
synonym: "type 1 maturity-onset diabetes of the young" RELATED [GARD:0003418]
xref: DOID:0111099 {source="MONDO:equivalentTo"}
xref: GARD:0003418 {source="MONDO:equivalentTo"}
xref: MESH:C565101 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129744 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: OMIM:125850 {source="MONDO:equivalentTo", source="DOID:0111099"}
xref: SCTID:609562003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C1852093 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129744", source="OMIM:125850"}
is_a: MONDO:0018911 {source="DC-OMIM:125850", source="DOID:0111099", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111099
property_value: exactMatch http://identifiers.org/mesh/C565101
property_value: exactMatch http://identifiers.org/omim/125850
property_value: exactMatch http://identifiers.org/snomedct/609562003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852093
property_value: exactMatch NCIT:C129744
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1 xsd:anyURI {source="GARD:0003418"}

[Term]
id: MONDO:0007453
name: maturity-onset diabetes of the young type 2
def: "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." [NCIT:C129741]
subset: gard_rare {source="GARD:0010657"}
synonym: "diabetes mellitus MODY type 2" RELATED [GARD:0010657]
synonym: "GCK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GCK-associated diabetes mellitus" EXACT [NCIT:C129741]
synonym: "glucokinase-associated diabetes mellitus" EXACT [NCIT:C129741]
synonym: "maturity onset diabetes of the Young, type 2" EXACT [NCIT:C129741]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in GCK" EXACT []
synonym: "maturity-onset diabetes of the young, type 2" RELATED [GARD:0010657, MONDO:Lexical, OMIM:125851]
synonym: "maturity-onset diabetes of the young, type 2; MODY2" RELATED [OMIM:125851]
synonym: "MODY 2 monogenic diabetes type 2" EXACT [NCIT:C129741]
synonym: "MODY glucokinase-related" EXACT [DOID:0111100]
synonym: "MODY type 2" EXACT [DOID:0111100]
synonym: "MODY, glucokinase-related" RELATED [OMIM:125851]
synonym: "MODY, type 2" RELATED [OMIM:125851]
synonym: "MODY2" EXACT [DOID:0111100, MONDO:Lexical, OMIM:125851]
synonym: "type 2 maturity-onset diabetes of the young" RELATED [GARD:0010657]
xref: DOID:0111100 {source="MONDO:equivalentTo"}
xref: GARD:0010657 {source="MONDO:equivalentTo"}
xref: NCIT:C129741 {source="MONDO:equivalentTo"}
xref: OMIM:125851 {source="MONDO:equivalentTo", source="DOID:0111100"}
xref: SCTID:237604008 {source="MONDO:kboom-pr-0.77/0.42/0.55", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:125851", source="DOID:0111100", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342277
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841962
property_value: exactMatch DOID:0111100
property_value: exactMatch http://identifiers.org/omim/125851
property_value: exactMatch http://identifiers.org/snomedct/237604008
property_value: exactMatch NCIT:C129741
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 xsd:anyURI {source="GARD:0010657"}

[Term]
id: MONDO:0007454
name: type 1 diabetes mellitus 2
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 2" RELATED [OMIM:125852]
synonym: "diabetes mellitus, insulin-dependent, type 2" EXACT [MONDORULE:1, OMIM:125852]
synonym: "IDDM2" EXACT [DOID:0110741]
synonym: "INS type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "insulin-dependent diabetes mellitus 2" EXACT [DOID:0110741, OMIM:125852]
synonym: "type 1 diabetes mellitus caused by mutation in INS" EXACT [MONDO:design_pattern]
xref: DOID:0110741 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110741"}
xref: MESH:C565100 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125852 {source="MONDO:equivalentTo", source="DOID:0110741"}
xref: UMLS:C1852092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125852"}
is_a: MONDO:0005147 {source="DC-OMIM:125852", source="DOID:0110741", source="MESH:C565100", source="MONDO:Redundant", source="MONDOLEX:0007454"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110741
property_value: exactMatch http://identifiers.org/mesh/C565100
property_value: exactMatch http://identifiers.org/omim/125852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852092

[Term]
id: MONDO:0007455
name: diabetes mellitus, noninsulin-dependent
synonym: "diabetes mellitus, noninsulin-dependent" EXACT [MONDO:Lexical, OMIM:125853]
synonym: "diabetes mellitus, noninsulin-dependent; NIDDM" RELATED [OMIM:125853]
synonym: "diabetes mellitus, type 2" RELATED [OMIM:125853]
synonym: "diabetes mellitus, type 2, protection against" RELATED [OMIM:125853]
synonym: "insulin resistance, susceptibility to" RELATED [OMIM:125853]
synonym: "maturity-onset diabetes" RELATED [OMIM:125853]
synonym: "NIDDM" RELATED [MONDO:Lexical, OMIM:125853]
synonym: "noninsulin-dependent diabetes mellitus" RELATED [OMIM:125853]
xref: OMIM:125853 {source="MONDO:equivalentTo"}
is_a: MONDO:0005148 {source="DC-OMIM:125853", source="MONDOLEX:0007455"} ! type 2 diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011860
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852091
property_value: exactMatch http://identifiers.org/omim/125853

[Term]
id: MONDO:0007456
name: diarrhea, glucose-stimulated secretory, with common variable immunodeficiency
synonym: "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" EXACT [OMIM:125890]
xref: MESH:C565099 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125890 {source="MONDO:equivalentTo"}
xref: UMLS:C1852087 {source="OMIM:125890", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565099/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565099
property_value: exactMatch http://identifiers.org/omim/125890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852087

[Term]
id: MONDO:0007457
name: diastema, dental medial
synonym: "diastema, dental medial" EXACT [OMIM:125900]
xref: MESH:C565098 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:125900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852086
property_value: exactMatch http://identifiers.org/mesh/C565098
property_value: exactMatch http://identifiers.org/omim/125900

[Term]
id: MONDO:0007458
name: digitotalar dysmorphism; ulnar drift, hereditary
synonym: "digitotalar dysmorphism" RELATED [OMIM:126050]
synonym: "ulnar drift, hereditary" RELATED [OMIM:126050]
xref: OMIM:126050 {source="MONDO:equivalentTo"}
xref: SCTID:715314008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015240 {source="MONDOLEX:0007458", source="ORDO:1146/btnt"} ! digitotalar dysmorphism
property_value: exactMatch http://identifiers.org/omim/126050
property_value: exactMatch http://identifiers.org/snomedct/715314008

[Term]
id: MONDO:0007459
name: dilution, pigmentary
synonym: "albinism, partial" RELATED [OMIM:126070]
synonym: "Albinoidism, oculocutaneous, autosomal dominant" RELATED [OMIM:126070]
synonym: "dilution, pigmentary" EXACT [OMIM:126070]
synonym: "hypomelanotic disorder" RELATED [GARD:0006731]
synonym: "hypopigmentation" RELATED [OMIM:126070]
xref: GARD:0006731 {source="MONDO:equivalentTo"}
xref: OMIM:126070 {source="MONDO:equivalentTo"}
xref: SCTID:23006000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.43/0.14"}
xref: UMLS:C1876214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126070"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/126070
property_value: exactMatch http://identifiers.org/snomedct/23006000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876214

[Term]
id: MONDO:0007460
name: discrimination, Two-point, reduction 1N
synonym: "discrimination, TWO-point, reduction IN" RELATED [OMIM:126180]
synonym: "discrimination, Two-point, reduction type 1N" EXACT [MONDORULE:4, OMIM:126180]
synonym: "sensory discrimination" RELATED [OMIM:126180]
xref: OMIM:126180 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852074
property_value: exactMatch http://identifiers.org/omim/126180

[Term]
id: MONDO:0007461
name: short stature-valvular heart disease-characteristic facies syndrome
def: "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." [Orphanet:2868]
subset: ordo_malformation_syndrome {source="Orphanet:2868"}
synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190]
xref: ICD10:Q87.1 {source="ORDO:2868/attributed", source="ORDO:2868/ntbt", source="Orphanet:2868"}
xref: MESH:C565094 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126190 {source="MONDO:equivalentTo", source="ORDO:2868/e", source="Orphanet:2868"}
xref: Orphanet:2868 {source="MONDO:equivalentTo", source="OMIM:126190"}
xref: UMLS:C1852073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126190"}
is_a: MONDO:0043008 {source="Orphanet:2868"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565094
property_value: exactMatch http://identifiers.org/omim/126190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852073
property_value: exactMatch Orphanet:2868

[Term]
id: MONDO:0007462
name: multiple sclerosis, susceptibility to
subset: predisposition
subset: prototype_pattern
synonym: "disseminated sclerosis" RELATED [OMIM:126200]
synonym: "MS" RELATED [OMIM:126200]
xref: OMIMPS:126200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005301 ! multiple sclerosis
relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis
property_value: closeMatch Orphanet:802

[Term]
id: MONDO:0007463
name: distal osteosclerosis
synonym: "distal osteosclerosis" EXACT [OMIM:126250]
synonym: "osteosclerosis, distal" RELATED [OMIM:126250]
xref: MESH:C565093 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126250 {source="MONDO:equivalentTo"}
xref: UMLS:C1852063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126250"}
is_a: MONDO:0003847 {source="MESH:C565093/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565093
property_value: exactMatch http://identifiers.org/omim/126250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852063

[Term]
id: MONDO:0007464
name: obsolete isolated distichiasis
def: "Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." [Orphanet:99177]
subset: ordo_morphological_anomaly {source="Orphanet:99177"}
synonym: "distichiasis" RELATED [OMIM:126300]
synonym: "eyelashes, two rows of" RELATED [OMIM:126300]
xref: ICD10:Q10.3 {source="ORDO:99177/attributed", source="ORDO:99177/ntbt", source="Orphanet:99177"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:126300 {source="MONDO:equivalentTo", source="ORDO:99177/e", source="Orphanet:99177"}
xref: Orphanet:99177 {source="OMIM:126300", source="MONDO:equivalentTo"}
xref: SCTID:95339000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.68"}
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:99177"} ! obsolete eyebrow/eyelashes distichiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423848
property_value: exactMatch http://identifiers.org/omim/126300
property_value: exactMatch http://identifiers.org/snomedct/95339000
property_value: exactMatch Orphanet:99177
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true
consider: HP:0009743

[Term]
id: MONDO:0007465
name: distichiasis with congenital anomalies of the heart and peripheral vasculature
synonym: "distichiasis with congenital anomalies of the heart and peripheral vasculature" EXACT [OMIM:126320]
synonym: "distichiasis-congenital heart defects-peripheral vascular anomalies syndrome" EXACT [Orphanet:1683]
xref: MESH:C565092 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126320 {source="MONDO:equivalentTo"}
xref: Orphanet:1683 {source="OMIM:126320", source="MONDO:equivalentTo"}
xref: UMLS:C1852062 {source="OMIM:126320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565092
property_value: exactMatch http://identifiers.org/omim/126320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852062
property_value: exactMatch Orphanet:1683

[Term]
id: MONDO:0007466
name: DNA, satellite, 3
comment: Editor note: TODO check
synonym: "D1Z1" RELATED [MONDO:Lexical, OMIM:126370]
synonym: "DNA, satellite, III; HS3" RELATED [MONDO:Lexical, OMIM:126370]
synonym: "DNA, satellite, III; HS3; D1Z1" RELATED [OMIM:126370]
synonym: "DNA, satellite, type 3" EXACT [MONDORULE:1, OMIM:126370]
synonym: "HS3" RELATED [OMIM:126370]
xref: OMIM:126370 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852044
property_value: exactMatch http://identifiers.org/omim/126370

[Term]
id: MONDO:0007467
name: DNA, low-repetitive sequences of
comment: Editor note: TODO check
synonym: "DNA, low-repetitive sequences of" EXACT [OMIM:126390]
synonym: "repetitive sequence DNA" RELATED [OMIM:126390]
xref: OMIM:126390 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852041
property_value: exactMatch http://identifiers.org/omim/126390

[Term]
id: MONDO:0007468
name: DNA, satellite, alpha type
comment: Editor note: TODO check
synonym: "DNA, satellite, alpha type" EXACT [OMIM:126410]
xref: OMIM:126410 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852038
property_value: exactMatch http://identifiers.org/omim/126410

[Term]
id: MONDO:0007469
name: double nail for fifth toe
subset: gard_rare
synonym: "double nail for fifth toe" EXACT [OMIM:126500]
synonym: "Double nails on the fifth toe" RELATED [GARD:0009672]
synonym: "fifth toe, double nails" RELATED [GARD:0009672]
xref: GARD:0009672 {source="MONDO:equivalentTo"}
xref: MESH:C565090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126500 {source="MONDO:equivalentTo", source="GARD:0009672"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0044990 ! hand disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852023
property_value: exactMatch http://identifiers.org/mesh/C565090
property_value: exactMatch http://identifiers.org/omim/126500
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe xsd:anyURI {source="GARD:0009672"}

[Term]
id: MONDO:0007470
name: calvarial doughnut lesions-bone fragility syndrome
def: "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." [Orphanet:85192]
subset: ordo_malformation_syndrome {source="Orphanet:85192"}
synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550]
synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192]
xref: ICD10:M85.8 {source="ORDO:85192/attributed", source="ORDO:85192/ntbt", source="Orphanet:85192"}
xref: MESH:C565089 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126550 {source="MONDO:equivalentTo", source="ORDO:85192/e", source="Orphanet:85192"}
xref: Orphanet:85192 {source="OMIM:126550", source="MONDO:equivalentTo"}
xref: SCTID:720598005 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
xref: UMLS:C1852022 {source="MEDGEN:kboom-pr97-c99", source="OMIM:126550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85192"}
is_a: MONDO:0019704 {source="Orphanet:85192"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C565089
property_value: exactMatch http://identifiers.org/omim/126550
property_value: exactMatch http://identifiers.org/snomedct/720598005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852022
property_value: exactMatch Orphanet:85192

[Term]
id: MONDO:0007471
name: Doyne honeycomb retinal dystrophy
def: "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." [https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy]
subset: gard_rare {source="GARD:0001912"}
subset: ordo_disease {source="Orphanet:75376"}
synonym: "DHD" RELATED [GARD:0001912]
synonym: "DHRD" EXACT [DOID:0060745, MONDO:Lexical, OMIM:126600, Orphanet:75376]
synonym: "dominant drusen" EXACT [Orphanet:75376]
synonym: "dominant radial drusen" EXACT [Orphanet:75376]
synonym: "Doyne honeycomb degeneration of retina" EXACT [DOID:0060745, OMIM:126600]
synonym: "Doyne honeycomb retinal dystrophy" EXACT [MONDO:Lexical, OMIM:126600, Orphanet:75376]
synonym: "Doyne honeycomb retinal dystrophy; DHRD" EXACT [OMIM:126600]
synonym: "drusen, radial, autosomal dominant" RELATED [OMIM:126600]
synonym: "familial drusen" RELATED [Orphanet:75376]
synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376]
xref: DOID:0060745 {source="MONDO:equivalentTo"}
xref: GARD:0001912 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="DOID:0060745", source="ORDO:75376/attributed", source="ORDO:75376/ntbt"}
xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="DOID:0060745", source="ORDO:75376/e"}
xref: Orphanet:75376 {source="MONDO:equivalentTo", source="DOID:0060745", source="OMIM:126600"}
xref: SCTID:193411004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.09"}
xref: UMLS:C1832174 {source="Orphanet:75376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126600"}
xref: UMLS:C1852020 {source="Orphanet:75376", source="MONDO:equivalentTo", source="OMIM:126600", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN205694 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006949 {source="DOID:0060745"} ! retinal drusen
is_a: MONDO:0016420 {source="Orphanet:75376"} ! familial flecked retinopathy
is_a: MONDO:0020245 {source="Orphanet:75376"} ! disease predisposing to age-related macular degeneration
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852021
property_value: exactMatch DOID:0060745
property_value: exactMatch http://identifiers.org/omim/126600
property_value: exactMatch http://identifiers.org/snomedct/193411004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205694
property_value: exactMatch Orphanet:75376
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy xsd:anyURI {source="GARD:0001912"}

[Term]
id: MONDO:0007472
name: basal laminar drusen
def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3." [DOID:0060746, PMID:18252232, PMID:5448127]
synonym: "basal laminar drusen" EXACT [OMIM:126700]
synonym: "cuticular drusen" EXACT [DOID:0060746]
synonym: "drusen of Bruch membrane" EXACT [DOID:0060746, OMIM:126700]
synonym: "drusen, cuticular" RELATED [OMIM:126700]
synonym: "drusen, early adult-onset, grouped" RELATED [OMIM:126700]
synonym: "early adult-onset grouped drusen" EXACT [DOID:0060746]
xref: DOID:0060746 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0060746"}
xref: MESH:C563034 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126700 {source="MONDO:equivalentTo", source="DOID:0060746"}
xref: UMLS:C0730295 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126700"}
is_a: MONDO:0001898 ! optic choroid disease
is_a: MONDO:0006949 {source="MONDO:cjm", source="PMID:18252232"} ! retinal drusen
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:0060746
property_value: exactMatch http://identifiers.org/mesh/C563034
property_value: exactMatch http://identifiers.org/omim/126700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730295

[Term]
id: MONDO:0007473
name: Duane retraction syndrome
def: "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." [Orphanet:233]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:233"}
subset: prototype_pattern
synonym: "DRS" EXACT [Orphanet:233]
synonym: "Duane anomaly" RELATED [GARD:0006288, OMIM:126800]
synonym: "Duane retraction syndrome" EXACT [GARD:0006288]
synonym: "Duane syndrome" EXACT [Orphanet:233]
synonym: "Duane's syndrome" EXACT [DOID:12557, ICD9CM_2006:378.71]
synonym: "DURS" EXACT [Orphanet:233]
synonym: "retraction syndrome" RELATED [OMIM:126800]
synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233]
xref: COHD:376989 {source="MONDO:equivalentTo"}
xref: DOID:12557 {source="MONDO:equivalentTo"}
xref: GARD:0006288 {source="MONDO:equivalentTo"}
xref: ICD10:H50.8 {source="ORDO:233/ntbt", source="ORDO:233/inclusion", source="Orphanet:233"}
xref: ICD10:H50.81 {source="DOID:12557"}
xref: ICD9:378.71 {source="DOID:12557", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10013799 {source="ORDO:233/e", source="Orphanet:233"}
xref: MESH:D004370 {source="DOID:12557", source="MONDO:equivalentTo", source="ORDO:233/e", source="Orphanet:233"}
xref: NCIT:C84678 {source="DOID:12557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.45"}
xref: OMIMPS:126800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:233 {source="MONDO:equivalentTo", source="GARD:0006288"}
xref: SCTID:60318001 {source="DOID:12557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0013261 {source="DOID:12557", source="NCIT:C84678", source="MONDO:equivalentTo", source="ORDO:233/e", source="Orphanet:233"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C84678"} ! syndromic disease
is_a: MONDO:0015083 {source="Orphanet:233"} ! nuclear oculomotor paralysis
is_a: MONDO:0020132 {source="Orphanet:233"} ! cranial nerve and nuclear aplasia
is_a: MONDO:0020253 {source="Orphanet:233"} ! syndrome with a symptomatic strabismus
relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12557"} ! strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0994516
property_value: exactMatch DOID:12557
property_value: exactMatch http://identifiers.org/meddra/10013799
property_value: exactMatch http://identifiers.org/mesh/D004370
property_value: exactMatch http://identifiers.org/snomedct/60318001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013261
property_value: exactMatch NCIT:C84678
property_value: exactMatch Orphanet:233
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome xsd:anyURI {source="GARD:0006288"}

[Term]
id: MONDO:0007474
name: duodenal ulcer due to antral G-cell hyperfunction
subset: gard_rare {source="GARD:0009743"}
synonym: "duodenal ulcer due to antral G-cell hyperfunction" EXACT [OMIM:126840]
synonym: "hypergastrinemic, hyperpepsinogenemic duodenal ulcer" RELATED [GARD:0009743]
xref: GARD:0009743 {source="MONDO:equivalentTo"}
xref: MESH:C535721 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126840 {source="MONDO:equivalentTo"}
xref: UMLS:C1852009 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126840"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535721
property_value: exactMatch http://identifiers.org/omim/126840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852009
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction xsd:anyURI {source="GARD:0009743"}

[Term]
id: MONDO:0007475
name: duodenal ulcer, hyperpepsinogenemic 1
synonym: "duodenal ulcer, hyperpepsinogenemic I" RELATED [OMIM:126850]
synonym: "duodenal Ulcer, hyperpepsinogenemic type 1" EXACT [MONDORULE:1, OMIM:126850]
xref: MESH:C565086 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:126850 {source="MONDO:equivalentTo"}
xref: UMLS:C1852008 {source="OMIM:126850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565086
property_value: exactMatch http://identifiers.org/omim/126850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852008

[Term]
id: MONDO:0007476
name: familial Dupuytren contracture
def: "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." [Orphanet:79142]
subset: ordo_disease {source="Orphanet:79142"}
synonym: "Dupuytren contracture" RELATED [OMIM:126900]
synonym: "Dupuytren contracture 1" RELATED [OMIM:126900]
synonym: "plantar fibromas" RELATED [OMIM:126900]
synonym: "plantar fibromatosis, familial" RELATED [OMIM:126900]
xref: GARD:0012165 {source="MONDO:equivalentTo"}
xref: ICD10:M72.0 {source="ORDO:79142/attributed", source="ORDO:79142/ntbt", source="Orphanet:79142"}
xref: OMIM:126900 {source="MONDO:equivalentTo", source="ORDO:79142/e", source="Orphanet:79142"}
xref: Orphanet:79142 {source="MONDO:equivalentTo", source="OMIM:126900"}
xref: SCTID:274142002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.82/0.44/1.02"}
is_a: MONDO:0002531 ! skin neoplasm
is_a: MONDO:0016037 {source="Orphanet:79142"} ! superficial Fibromatosis
is_a: MONDO:0019275 {source="Orphanet:79142"} ! other genetic epidermal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013312
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851997
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851998
property_value: exactMatch http://identifiers.org/omim/126900
property_value: exactMatch http://identifiers.org/snomedct/274142002
property_value: exactMatch Orphanet:79142

[Term]
id: MONDO:0007477
name: 3-M syndrome
def: "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." [Orphanet:2616]
subset: ordo_malformation_syndrome {source="Orphanet:2616"}
subset: prototype_pattern
synonym: "3-M syndrome" EXACT [MESH:C535314, Orphanet:2616]
synonym: "3-MSBN" RELATED [GARD:0005667]
synonym: "3M syndrome" RELATED [MESH:C535314]
synonym: "3M1" NARROW [MESH:C535314]
synonym: "Dolichospondylic dysplasia" EXACT [Orphanet:2616]
synonym: "dolichospondylic dysplasia" EXACT [DOID:0060241]
synonym: "dwarfism with tall vertebrae" RELATED [OMIM:126950]
synonym: "gloomy face syndrome" EXACT [DOID:0060241, Orphanet:2616]
synonym: "gloomy face syndrome Yakut short stature syndrome, included" RELATED [MESH:C535314]
synonym: "Le Merrer syndrome" EXACT [DOID:0060241, Orphanet:2616]
synonym: "Miller-McKusick-Malvaux syndrome" EXACT [DOID:0060241]
synonym: "three M syndrome" EXACT [DOID:0060241, MESH:C535314]
synonym: "three M syndrome 1" NARROW [MESH:C535314]
synonym: "three-M slender-boned nanism" RELATED [MESH:C535314]
synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616]
xref: DOID:0060241 {source="MONDO:equivalentTo"}
xref: GARD:0005667 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:2616/attributed", source="ORDO:2616/ntbt", source="Orphanet:2616"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535314 {source="DOID:0060241", source="MONDO:equivalentTo"}
xref: OMIMPS:273750 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2616 {source="DOID:0060241", source="MONDO:equivalentTo"}
xref: SCTID:702342007 {source="DOID:0060241", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.98"}
is_a: MONDO:0006025 {source="DOID:0060241", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015329 {source="Orphanet:2616"} ! malformation syndrome with short stature
is_a: MONDO:0019699 {source="Orphanet:2616"} ! slender bone dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2616"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/mesh/C535725
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678312
property_value: closeMatch Orphanet:2661
property_value: exactMatch DOID:0060241
property_value: exactMatch http://identifiers.org/mesh/C535314
property_value: exactMatch http://identifiers.org/snomedct/702342007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851996
property_value: exactMatch Orphanet:2616

[Term]
id: MONDO:0007478
name: autosomal dominant Kenny-Caffey syndrome
def: "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." [NCIT:C130993]
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:93325"}
synonym: "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" RELATED [GARD:0000083]
synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [OMIM:127000]
synonym: "KCS2" RELATED [GARD:0000083, MONDO:Lexical, OMIM:127000]
synonym: "Kenny syndrome" BROAD [OMIM:127000]
synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993]
synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant]
synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000]
synonym: "Kenny-Caffey syndrome, type 2; KCS2" RELATED [OMIM:127000]
xref: GARD:0000083 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:93325/attributed", source="ORDO:93325/ntbt", source="Orphanet:93325"}
xref: NCIT:C130993 {source="MONDO:equivalentTo"}
xref: OMIM:127000 {source="ORDO:93325/e", source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083"}
xref: Orphanet:93325 {source="OMIM:127000", source="MONDO:equivalentTo", source="GARD:0000083"}
xref: UMLS:CN031291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016516 {source="DC-OMIM:127000", source="MONDO:Redundant", source="OMIM:127000", source="Orphanet:93325"} ! Kenny-Caffey syndrome
property_value: exactMatch http://identifiers.org/omim/127000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031291
property_value: exactMatch NCIT:C130993
property_value: exactMatch Orphanet:93325
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 xsd:anyURI {source="GARD:0000083"}

[Term]
id: MONDO:0007479
name: dwarfism, Levi type
subset: gard_rare {source="GARD:0006294"}
synonym: "dwarfism Levi type" RELATED [GARD:0006294]
synonym: "dwarfism Levi's type" RELATED [GARD:0006294]
synonym: "dwarfism, Levi type" EXACT [OMIM:127100]
synonym: "snub-nosed type of dwarfism" RELATED [OMIM:127100]
xref: GARD:0006294 {source="MONDO:equivalentTo"}
xref: MESH:C565081 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:127100 {source="MONDO:equivalentTo"}
xref: UMLS:C1851994 {source="OMIM:127100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565081/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565081
property_value: exactMatch http://identifiers.org/omim/127100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851994
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type xsd:anyURI {source="GARD:0006294"}

[Term]
id: MONDO:0007480
name: dwarfism with stiff joints and ocular abnormalities
synonym: "dwarfism with stiff joints and ocular abnormalities" EXACT [OMIM:127200]
synonym: "Moore-Federman syndrome" RELATED [OMIM:127200]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535724 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:127200 {source="MONDO:equivalentTo"}
xref: Orphanet:2569 {source="OMIM:127200", source="MONDO:equivalentTo"}
xref: SCTID:72913007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
is_a: MONDO:0003847 {source="MESH:C535724/inferred", source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265349
property_value: exactMatch http://identifiers.org/mesh/C535724
property_value: exactMatch http://identifiers.org/omim/127200
property_value: exactMatch http://identifiers.org/snomedct/72913007
property_value: exactMatch Orphanet:2569

[Term]
id: MONDO:0007481
name: Leri-Weill dyschondrosteosis
def: "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." [Orphanet:240]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:240"}
synonym: "DCo" RELATED [GARD:0003224]
synonym: "dyschondrosteosis" RELATED [GARD:0003224, OMIM:127300]
synonym: "LC)ri-Weill dyschondrosteosis" RELATED [GARD:0003224]
synonym: "LC)ri-Weill syndrome" EXACT [Orphanet:240]
synonym: "Leri Weill dyschondrosteosis" RELATED [GARD:0003224]
synonym: "Leri-Weill dyschondrosteosis" EXACT [MONDO:Lexical, OMIM:127300]
synonym: "Leri-Weill dyschondrosteosis; LWD" RELATED [OMIM:127300]
synonym: "Leri-Weill syndrome" EXACT [NCIT:C126560]
synonym: "LWD" RELATED [GARD:0003224, MONDO:Lexical, OMIM:127300]
synonym: "Léri-Weill dyschondrosteosis" RELATED [GARD:0003224]
synonym: "Léri-Weill syndrome" EXACT [Orphanet:240]
synonym: "Madelung deformity" RELATED [OMIM:127300]
xref: DOID:0060847 {source="MONDO:equivalentTo"}
xref: GARD:0003224 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:240/attributed", source="ORDO:240/ntbt", source="Orphanet:240", source="DOID:0060847"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C126560 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:127300 {source="GARD:0003224", source="MONDO:equivalentTo", source="ORDO:240/e", source="Orphanet:240", source="DOID:0060847"}
xref: Orphanet:240 {source="GARD:0003224", source="OMIM:127300", source="MONDO:equivalentTo", source="DOID:0060847"}
xref: SCTID:17818006 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0265309 {source="NCIT:C126560", source="NCBI:mim2gene_medline", source="OMIM:127300", source="MONDO:equivalentTo", source="ORDO:240/e", source="Orphanet:240", source="DOID:0060847"}
is_a: MONDO:0005516 {source="DOID:0060847"} ! osteochondrodysplasia
is_a: MONDO:0019697 {source="Orphanet:240"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch DOID:0060847
property_value: exactMatch http://identifiers.org/mesh/C537119
property_value: exactMatch http://identifiers.org/omim/127300
property_value: exactMatch http://identifiers.org/snomedct/17818006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265309
property_value: exactMatch NCIT:C126560
property_value: exactMatch Orphanet:240
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis xsd:anyURI {source="GARD:0003224"}

[Term]
id: MONDO:0007482
name: dyschondrosteosis-nephritis syndrome
def: "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis." [Orphanet:1765]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1765"}
synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350]
synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994]
synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994]
xref: GARD:0001994 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1765/attributed", source="ORDO:1765/ntbt", source="Orphanet:1765"}
xref: MESH:C565080 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="ORDO:1765/e"}
xref: Orphanet:1765 {source="GARD:0001994", source="MONDO:equivalentTo", source="OMIM:127350"}
xref: UMLS:C1851986 {source="GARD:0001994", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1765", source="OMIM:127350"}
is_a: MONDO:0019697 {source="Orphanet:1765"} ! mesomelic and rhizo-mesomelic dysplasia
is_a: MONDO:0019721 {source="Orphanet:1765"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C565080
property_value: exactMatch http://identifiers.org/omim/127350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851986
property_value: exactMatch Orphanet:1765
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis xsd:anyURI {source="GARD:0001994"}

[Term]
id: MONDO:0007483
name: dyschromatosis symmetrica hereditaria
def: "Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." [Orphanet:41]
subset: ordo_disease {source="Orphanet:41"}
synonym: "acropigmentation of Dohi" EXACT [Orphanet:41]
synonym: "DSH" RELATED [MONDO:Lexical, OMIM:127400]
synonym: "DSH1" EXACT [NCIT:C118435]
synonym: "dyschromatosis symmetrica hereditaria" EXACT [MONDO:Lexical, OMIM:127400]
synonym: "dyschromatosis symmetrica hereditaria 1" RELATED [OMIM:127400]
synonym: "dyschromatosis symmetrica hereditaria; DSH" RELATED [OMIM:127400]
synonym: "familial reticulate acropigmentation of Dohi" RELATED [GARD:0000334]
synonym: "RAD" EXACT [NCIT:C118435]
synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, OMIM:127400]
synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400]
xref: DOID:0060257 {source="MONDO:equivalentTo"}
xref: EFO:0008878 {source="MONDO:equivalentTo"}
xref: GARD:0000334 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L81.8 {source="ORDO:41/attributed", source="ORDO:41/ntbt", source="Orphanet:41"}
xref: MESH:C535729 {source="DOID:0060257", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:41", source="ORDO:41/e"}
xref: NCIT:C118435 {source="DOID:0060257", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:127400 {source="DOID:0060257", source="MONDO:equivalentTo", source="Orphanet:41", source="ORDO:41/e"}
xref: Orphanet:41 {source="DOID:0060257", source="OMIM:127400", source="MONDO:equivalentTo"}
xref: SCTID:239085000 {source="MONDO:kboom-pr-1.00/0.81/10.72", source="DOID:0060257", source="MONDO:equivalentTo"}
xref: UMLS:C0406775 {source="DOID:0060257", source="OMIM:127400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118435", source="Orphanet:41", source="ORDO:41/e"}
is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder
is_a: MONDO:0019289 {source="Orphanet:41", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
property_value: exactMatch DOID:0060257
property_value: exactMatch http://identifiers.org/mesh/C535729
property_value: exactMatch http://identifiers.org/omim/127400
property_value: exactMatch http://identifiers.org/snomedct/239085000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406775
property_value: exactMatch NCIT:C118435
property_value: exactMatch Orphanet:41

[Term]
id: MONDO:0007484
name: obsolete dyschromatosis universalis
is_obsolete: true
replaced_by: MONDO:0000736

[Term]
id: MONDO:0007485
name: dyskeratosis congenita, autosomal dominant 1
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2." [DOID:0070014]
subset: gard_rare
subset: prototype_pattern
synonym: "autosomal dominant dyskeratosis congenita" RELATED [GARD:0006299]
synonym: "autosomal dominant dyskeratosis congenita 1" RELATED [DOID:0070014]
synonym: "DKCA" RELATED [GARD:0006299]
synonym: "DKCA1" EXACT [DOID:0070014, MONDO:Lexical, OMIM:127550]
synonym: "dyskeratosis congenita autosomal dominant" RELATED [GARD:0006299]
synonym: "dyskeratosis congenita Scoggins type" RELATED [GARD:0006299]
synonym: "dyskeratosis congenita, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:127550]
synonym: "dyskeratosis congenita, autosomal dominant 1; DKCA1" RELATED [OMIM:127550]
synonym: "dyskeratosis congenita, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:127550]
synonym: "dyskeratosis congenita, Scoggins type" EXACT [DOID:0070014, OMIM:127550]
xref: DOID:0070014 {source="MONDO:equivalentTo"}
xref: GARD:0006299 {source="MONDO:equivalentTo"}
xref: MESH:C565079 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:127550 {source="DOID:0070014", source="MONDO:equivalentTo", source="GARD:0006299"}
xref: SCTID:707273001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015780 {source="DC-OMIM:127550", source="DOID:0070014", source="MESH:C565079", source="OMIM:127550"} ! dyskeratosis congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851970
property_value: exactMatch DOID:0070014
property_value: exactMatch http://identifiers.org/mesh/C565079
property_value: exactMatch http://identifiers.org/omim/127550
property_value: exactMatch http://identifiers.org/snomedct/707273001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant xsd:anyURI {source="GARD:0006299"}

[Term]
id: MONDO:0007486
name: hereditary benign intraepithelial dyskeratosis
def: "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." [NCIT:C3940]
subset: ordo_disease {source="Orphanet:352657"}
synonym: "Dkbi" RELATED [OMIM:127600]
synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical, OMIM:127600]
synonym: "dyskeratosis, hereditary benign intraepithelial; HBID" RELATED [OMIM:127600]
synonym: "HBID" EXACT [MONDO:Lexical, OMIM:127600, Orphanet:352657]
synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657]
synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940]
xref: ICD10:Q82.8 {source="ORDO:352657/attributed", source="ORDO:352657/ntbt", source="Orphanet:352657"}
xref: MESH:C562551 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3940 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:127600 {source="MONDO:equivalentTo", source="ORDO:352657/e", source="Orphanet:352657"}
xref: Orphanet:352657 {source="MONDO:equivalentTo", source="OMIM:127600"}
xref: SCTID:400014002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.76"}
xref: UMLS:C0265966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127600", source="NCIT:C3940", source="Orphanet:352657"}
is_a: MONDO:0020212 {source="Orphanet:352657"} ! superficial corneal dystrophy
is_a: MONDO:0020215 ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C562551
property_value: exactMatch http://identifiers.org/omim/127600
property_value: exactMatch http://identifiers.org/snomedct/400014002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265966
property_value: exactMatch NCIT:C3940
property_value: exactMatch Orphanet:352657

[Term]
id: MONDO:0007487
name: dyslexia, susceptibility to, 1
subset: predisposition
synonym: "dyslexia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:127700]
synonym: "dyslexia, susceptibility to, 1; DYX1" RELATED [OMIM:127700]
synonym: "dyslexia, susceptibility to, 4" RELATED [OMIM:127700]
synonym: "dyslexia, susceptibility to, 7" RELATED [OMIM:127700]
synonym: "dyslexia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:127700]
synonym: "DYX1" RELATED [MONDO:Lexical, OMIM:127700]
synonym: "reading disability, specific, 1" RELATED [OMIM:127700]
synonym: "susceptibility to dyslexia 1" RELATED [OMIM:127700]
synonym: "Word-blindness, congenital" RELATED [OMIM:127700]
xref: OMIM:127700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005489 ! dyslexia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851967
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851968
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851969
property_value: exactMatch http://identifiers.org/omim/127700

[Term]
id: MONDO:0007488
name: Lewy body dementia
def: "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." [NCIT:P378]
synonym: "dementia with Lewy bodies" EXACT [DOID:12217, ICD9CM_2006:331.82]
synonym: "dementia, Lewy body" RELATED [MONDO:Lexical, OMIM:127750]
synonym: "dementia, Lewy body; DLB" RELATED [OMIM:127750]
synonym: "diffuse Lewy body disease" RELATED [OMIM:127750]
synonym: "diffuse Lewy body disease with gaze palsy" RELATED [OMIM:127750]
synonym: "DLB" RELATED [MONDO:Lexical, OMIM:127750]
synonym: "Lewy body dementia" EXACT [OMIM:127750]
synonym: "Lewy body disease" EXACT [DOID:12217]
synonym: "Lewy body variant of Alzheimer disease" RELATED [OMIM:127750]
synonym: "Senile dementia of the Lewy body type" EXACT [DOID:12217]
xref: COHD:380701 {source="MONDO:equivalentTo"}
xref: DOID:12217 {source="MONDO:equivalentTo"}
xref: EFO:0006792 {source="MONDO:equivalentTo"}
xref: GARD:0003243 {source="MONDO:equivalentTo"}
xref: ICD10:G31.83 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: ICD9:331.82 {source="DOID:12217"}
xref: NCIT:C84826 {source="DOID:12217", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:127750 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: SCTID:312991009 {source="DOID:12217", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0752347 {source="MEDGEN:kboom-pr98-c99", source="OMIM:127750", source="DOID:12217", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84826"}
is_a: MONDO:0000510 {source="DOID:12217"} ! synucleinopathy
is_a: MONDO:0001627 {source="DOID:12217", source="MONDO:Redundant", source="NCIT:C84826", source="linkedlifedata", source="linkedlifedata/inferred"} ! dementia (disease)
property_value: closeMatch http://identifiers.org/mesh/D020961
property_value: closeMatch http://identifiers.org/snomedct/192808003
property_value: closeMatch http://identifiers.org/snomedct/230275004
property_value: closeMatch http://identifiers.org/snomedct/230276003
property_value: closeMatch http://identifiers.org/snomedct/230277007
property_value: closeMatch http://identifiers.org/snomedct/80098002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851957
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851958
property_value: closeMatch Orphanet:1648
property_value: exactMatch DOID:12217
property_value: exactMatch http://identifiers.org/omim/127750
property_value: exactMatch http://identifiers.org/snomedct/312991009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752347
property_value: exactMatch NCIT:C84826

[Term]
id: MONDO:0007489
name: dysplasia epiphysealis hemimelica
def: "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rarecondition that most commonly affects the epiphysis (the end) of long bones in children.Early diagnosis and treatment are necessary to prevent jointdysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.Thecause ofdysplasia epiphysealis hemimelica is not known." [https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica]
subset: gard_rare {source="GARD:0002019"}
subset: ordo_malformation_syndrome {source="Orphanet:1822"}
synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800]
synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822]
xref: GARD:0002019 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="ORDO:1822/attributed", source="ORDO:1822/ntbt", source="Orphanet:1822"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="ORDO:1822/e", source="MONDO:ontobio"}
xref: OMIM:127800 {source="MONDO:equivalentTo", source="Orphanet:1822", source="ORDO:1822/e"}
xref: Orphanet:1822 {source="MONDO:equivalentTo", source="OMIM:127800"}
xref: SCTID:205480005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127800", source="Orphanet:1822", source="ORDO:1822/e"}
is_a: MONDO:0019708 {source="Orphanet:1822"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C537997
property_value: exactMatch http://identifiers.org/omim/127800
property_value: exactMatch http://identifiers.org/snomedct/205480005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432282
property_value: exactMatch Orphanet:1822
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica xsd:anyURI {source="GARD:0002019"}

[Term]
id: MONDO:0007490
name: carpotarsal osteochondromatosis
def: "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." [Orphanet:2767]
subset: gard_rare {source="GARD:0001128"}
subset: ordo_malformation_syndrome {source="Orphanet:2767"}
synonym: "dominant carpotarsal osteochondromatosis" RELATED [GARD:0001128]
synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [OMIM:127820]
synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128]
synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767]
synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820]
xref: GARD:0001128 {source="MONDO:equivalentTo"}
xref: ICD10:D16.9 {source="ORDO:2767/attributed", source="ORDO:2767/ntbt", source="Orphanet:2767"}
xref: MESH:C565076 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:127820 {source="MONDO:equivalentTo", source="ORDO:2767/e", source="Orphanet:2767"}
xref: Orphanet:2767 {source="MONDO:equivalentTo", source="OMIM:127820"}
xref: SCTID:389272007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1300233 {source="MONDO:equivalentTo", source="ORDO:2767/e", source="Orphanet:2767"}
is_a: MONDO:0019708 {source="Orphanet:2767"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851956
property_value: exactMatch http://identifiers.org/mesh/C565076
property_value: exactMatch http://identifiers.org/omim/127820
property_value: exactMatch http://identifiers.org/snomedct/389272007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300233
property_value: exactMatch Orphanet:2767
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis xsd:anyURI {source="GARD:0001128"}

[Term]
id: MONDO:0007491
name: dystelephalangy
subset: gard_rare {source="GARD:0010059"}
synonym: "congenital bilateral metadiaphyseal acrodysplasia of the little finger" RELATED [GARD:0010059]
synonym: "dystelephalangy" EXACT [OMIM:128000]
synonym: "Kirner deformity" RELATED [OMIM:128000]
xref: GARD:0010059 {source="MONDO:equivalentTo"}
xref: MESH:C538000 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:128000 {source="MONDO:equivalentTo"}
xref: UMLS:C1851955 {source="OMIM:128000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538000
property_value: exactMatch http://identifiers.org/omim/128000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851955
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy xsd:anyURI {source="GARD:0010059"}

[Term]
id: MONDO:0007492
name: early-onset generalized limb-onset dystonia
alt_id: MONDO:0023033
def: "Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." [Orphanet:256]
subset: gard_rare
subset: ordo_disease {source="Orphanet:256"}
synonym: "dystonia 1" RELATED [GARD:0002027]
synonym: "dystonia 1, torsion, Autosomal dominant" RELATED [MESH:C538005]
synonym: "dystonia 1, torsion, autosomal dominant" RELATED [GARD:0002027, MONDO:Lexical, OMIM:128100]
synonym: "dystonia 1, torsion, autosomal dominant; DYT1" RELATED [OMIM:128100]
synonym: "dystonia musculorum deformans" EXACT [DOID:0060730, Orphanet:256]
synonym: "dystonia musculorum deformans 1" RELATED [GARD:0002027, MESH:C538005, OMIM:128100]
synonym: "DYT-TOR1A" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm]
synonym: "DYT-TOR1A dystonia" RELATED [GARD:0002027]
synonym: "DYT1" EXACT [Orphanet:256]
synonym: "Dyt1" RELATED [MESH:C538005]
synonym: "Early onset torsion dystonia" RELATED [MESH:C538005]
synonym: "early onset torsion dystonia" RELATED [GARD:0002027]
synonym: "early-onset generalized limb-onset dystonia" EXACT [Orphanet:256]
synonym: "Early-onset Generalized torsion dystonia" RELATED [MESH:C538005]
synonym: "early-onset generalized torsion dystonia" EXACT [Orphanet:256]
synonym: "Early-onset Primary dystonia" RELATED [MESH:C538005]
synonym: "early-onset primary dystonia" EXACT [Orphanet:256]
synonym: "Early-onset torsion dystonia" RELATED [MESH:C538005]
synonym: "early-onset torsion dystonia" EXACT [Orphanet:256]
synonym: "early-onset torsion dystonia" RELATED [OMIM:128100]
synonym: "EOTD" EXACT [GARD:0002027, MESH:C538005, Orphanet:256]
synonym: "idiopathic dystonia" EXACT [Orphanet:256]
synonym: "idiopathic dystonia DYT1" RELATED [GARD:0002027]
synonym: "idiopathic torsion dystonia" EXACT [Orphanet:256]
synonym: "Oppenheim dystonia" EXACT [Orphanet:256]
synonym: "Oppenheim dystonia" RELATED [MESH:C538005]
synonym: "Oppenheim's dystonia" RELATED [GARD:0002027, MESH:C538005]
synonym: "Primary torsion dystonia" RELATED [MESH:C538005]
synonym: "torsion dystonia 1" RELATED [DOID:0060730]
synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005]
synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1]
xref: DOID:0060730 {source="MONDO:equivalentTo"}
xref: GARD:0002027 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="DOID:0060730", source="ORDO:256/specific", source="ORDO:256/e", source="Orphanet:256"}
xref: MESH:C538005 {source="MONDO:equivalentTo"}
xref: OMIM:128100 {source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo", source="MEDIC:C538005", source="ORDO:256/btnt", source="Orphanet:256"}
xref: Orphanet:256 {source="OMIM:128100", source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo"}
xref: UMLS:C0013423 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:256"}
xref: UMLS:C3888090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:256"}
is_a: MONDO:0100016 {source="MONDO:nv"} ! early-onset generalized dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851945
property_value: exactMatch DOID:0060730
property_value: exactMatch http://identifiers.org/mesh/C538005
property_value: exactMatch http://identifiers.org/omim/128100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013423
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888090
property_value: exactMatch Orphanet:256
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia xsd:anyURI {source="GARD:0002027"}

[Term]
id: MONDO:0007493
name: torsion dystonia 4
def: "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." [Orphanet:98805]
subset: ordo_disease {source="Orphanet:98805"}
synonym: "autosomal dominant torsion dystonia-4" RELATED [GARD:0010138]
synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:128101]
synonym: "dystonia 4, torsion, autosomal dominant; DYT4" RELATED [OMIM:128101]
synonym: "dystonia musculorum deformans 4" RELATED [OMIM:128101]
synonym: "DYT4" EXACT [MONDO:Lexical, OMIM:128101, Orphanet:98805]
synonym: "hereditary whispering dysphonia" EXACT [Orphanet:98805]
synonym: "primary dystonia, DYT4 type" RELATED [Orphanet:98805]
synonym: "torsion dystonia type 4" EXACT [DOID:0090041, MONDORULE:1]
synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101]
xref: DOID:0090041 {source="MONDO:equivalentTo"}
xref: GARD:0010138 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="DOID:0090041", source="ORDO:98805/attributed", source="ORDO:98805/ntbt", source="Orphanet:98805"}
xref: OMIM:128101 {source="DOID:0090041", source="MONDO:equivalentTo", source="ORDO:98805/e", source="Orphanet:98805"}
xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO:equivalentTo"}
xref: SCTID:719276005 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"}
xref: UMLS:C1851943 {source="MEDGEN:kboom-pr98-c99", source="OMIM:128101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98805"}
xref: UMLS:C1860315 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:98805"}
is_a: MONDO:0015990 {source="Orphanet:98805"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090041
property_value: exactMatch http://identifiers.org/omim/128101
property_value: exactMatch http://identifiers.org/snomedct/719276005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860315
property_value: exactMatch Orphanet:98805

[Term]
id: MONDO:0007494
name: episodic kinesigenic dyskinesia 1
def: "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." [Orphanet:98809]
subset: ordo_disease {source="Orphanet:98809"}
synonym: "dystonia 10" RELATED [OMIM:128200]
synonym: "dystonia, familial paroxysmal" RELATED [OMIM:128200]
synonym: "DYT-PRRT2" RELATED [GARD:0008721]
synonym: "EKD1" RELATED [MONDO:Lexical, OMIM:128200]
synonym: "episodic kinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:128200]
synonym: "episodic kinesigenic dyskinesia 1; EKD1" RELATED [OMIM:128200]
synonym: "episodic kinesigenic dyskinesia caused by mutation in PRRT2" EXACT [MONDO:design_pattern]
synonym: "episodic kinesigenic dyskinesia type 1" EXACT [DOID:0090053, MONDORULE:1, OMIM:128200]
synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809]
synonym: "familial PKD" EXACT [Orphanet:98809]
synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809]
synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [OMIM:128200]
synonym: "paroxysmal kinesigenic dyskinesia" RELATED [OMIM:128200]
synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0090053 {source="MONDO:equivalentTo"}
xref: GARD:0008721 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.8 {source="ORDO:98809/attributed", source="ORDO:98809/ntbt", source="DOID:0090053", source="Orphanet:98809"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537180 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:128200 {source="DOID:0090053", source="MONDO:equivalentTo", source="ORDO:98809/e", source="Orphanet:98809"}
xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200", source="MONDO:equivalentTo"}
xref: SCTID:609221008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
is_a: MONDO:0044202 {source="MONDO:Redundant", source="OMIM:128200"} ! episodic kinesigenic dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868682
property_value: exactMatch DOID:0090053
property_value: exactMatch http://identifiers.org/mesh/C537180
property_value: exactMatch http://identifiers.org/omim/128200
property_value: exactMatch http://identifiers.org/snomedct/609221008
property_value: exactMatch Orphanet:98809

[Term]
id: MONDO:0007495
name: dystonia 5
def: "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." [Orphanet:98808]
subset: ordo_disease {source="Orphanet:98808"}
synonym: "autosomal dominant dopa-responsive dystonia" RELATED [Orphanet:98808]
synonym: "autosomal dominant Segawa syndrome" EXACT [Orphanet:98808]
synonym: "Dopa-responsive dystonia, autosomal dominant" RELATED [OMIM:128230]
synonym: "Dopa-responsive dystonia; Segawa syndrome AD" RELATED [GARD:0012144]
synonym: "DRD" RELATED [MONDO:Lexical, OMIM:128230]
synonym: "dystonia 5" EXACT [OMIM:128230]
synonym: "dystonia type 5" EXACT [DOID:0090043, MONDORULE:1]
synonym: "dystonia, DOPA-responsive" RELATED [MONDO:Lexical, OMIM:128230]
synonym: "dystonia, Dopa-responsive, autosomal dominant" RELATED [OMIM:128230]
synonym: "dystonia, DOPA-responsive; DRD" RELATED [OMIM:128230]
synonym: "dystonia, progressive, with diurnal variation" RELATED [OMIM:128230]
synonym: "dystonia-Parkinsonism with diurnal fluctuation" RELATED [OMIM:128230]
synonym: "DYT-GCH1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT5a" EXACT [Orphanet:98808]
synonym: "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [Orphanet:98808]
synonym: "GTPCH1-deficient DRD" EXACT [Orphanet:98808]
synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT [Orphanet:98808]
synonym: "HPD with marked diurnal fluctuation" EXACT [Orphanet:98808]
synonym: "Segawa syndrome, autosomal dominant" RELATED [OMIM:128230]
xref: DOID:0090043 {source="MONDO:equivalentTo"}
xref: GARD:0012144 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="ORDO:98808/attributed", source="ORDO:98808/ntbt", source="DOID:0090043", source="Orphanet:98808"}
xref: OMIM:128230 {source="DOID:0090043", source="MONDO:equivalentTo", source="ORDO:98808/e", source="Orphanet:98808"}
xref: Orphanet:98808 {source="DOID:0090043", source="MONDO:equivalentTo", source="OMIM:128230"}
xref: SCTID:715768000 {source="MONDO:kboom-pr-1.00/0.81/10.50", source="MONDO:equivalentTo"}
xref: UMLS:CN207122 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016812 {source="Orphanet:98808", source="linkedlifedata"} ! dopa-responsive dystonia
is_a: MONDO:0017756 {source="Orphanet:98808"} ! disorder of pterin metabolism
property_value: exactMatch DOID:0090043
property_value: exactMatch http://identifiers.org/omim/128230
property_value: exactMatch http://identifiers.org/snomedct/715768000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207122
property_value: exactMatch Orphanet:98808

[Term]
id: MONDO:0007496
name: dystonia 12
def: "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." [Orphanet:71517]
subset: ordo_disease {source="Orphanet:71517"}
synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517]
synonym: "dystonia 12; DYT12" RELATED [OMIM:128235]
synonym: "dystonia type 12" EXACT [DOID:0090056, MONDORULE:2, OMIM:128235]
synonym: "dystonia-Parkinsonism, rapid-onset" RELATED [OMIM:128235]
synonym: "dystonic disorder caused by mutation in ATP1A3" EXACT [MONDO:design_pattern]
synonym: "DYT-ATP1A3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517]
synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517]
synonym: "RDP" RELATED [GARD:0009628]
xref: DOID:0090056 {source="MONDO:equivalentTo"}
xref: GARD:0009628 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="ORDO:71517/attributed", source="ORDO:71517/ntbt", source="DOID:0090056", source="Orphanet:71517"}
xref: MESH:C538001 {source="MONDO:equivalentTo"}
xref: OMIM:128235 {source="DOID:0090056", source="MONDO:equivalentTo", source="ORDO:71517/e", source="Orphanet:71517"}
xref: Orphanet:71517 {source="DOID:0090056", source="OMIM:128235", source="MONDO:equivalentTo"}
xref: SCTID:702323008 {source="MONDO:kboom-pr-0.73/0.44/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C1868681 {source="NCBI:mim2gene_medline", source="OMIM:128235", source="MONDO:equivalentTo", source="Orphanet:71517"}
is_a: MONDO:0018329 {source="Orphanet:71517"} ! persistent combined dystonia
is_a: MONDO:0021095 {source="Orphanet:71517"} ! parkinsonian disorder
property_value: exactMatch DOID:0090056
property_value: exactMatch http://identifiers.org/mesh/C538001
property_value: exactMatch http://identifiers.org/omim/128235
property_value: exactMatch http://identifiers.org/snomedct/702323008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868681
property_value: exactMatch Orphanet:71517

[Term]
id: MONDO:0007497
name: ear antitragus, tag at base of
synonym: "ear antitragus, tag at base of" EXACT [OMIM:128290]
xref: OMIM:128290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851905
property_value: exactMatch http://identifiers.org/omim/128290

[Term]
id: MONDO:0007498
name: ear exostoses
synonym: "ear exostoses" EXACT [OMIM:128300]
synonym: "exostoses of external auditory canal" RELATED [OMIM:128300]
xref: OMIM:128300 {source="MONDO:equivalentTo"}
xref: UMLS:C0155411 {source="OMIM:128300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/128300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155411

[Term]
id: MONDO:0007499
name: ear folding
synonym: "ear folding" EXACT [OMIM:128500]
xref: OMIM:128500 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851901
property_value: exactMatch http://identifiers.org/omim/128500

[Term]
id: MONDO:0007500
name: ear malformation
synonym: "cup Ear" RELATED [OMIM:128600]
synonym: "ear malformation" EXACT [OMIM:128600]
xref: ICD9:744.29 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:744.3 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:128600 {source="MONDO:equivalentTo"}
xref: SCTID:275259005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266589
property_value: exactMatch http://identifiers.org/omim/128600
property_value: exactMatch http://identifiers.org/snomedct/275259005

[Term]
id: MONDO:0007501
name: preauricular fistulae, congenital
synonym: "Ear pits" RELATED [OMIM:128700]
synonym: "Pafc" RELATED [OMIM:128700]
synonym: "preauricular fistulae, congenital" EXACT [OMIM:128700]
xref: MESH:C563015 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:128700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546969
property_value: exactMatch http://identifiers.org/mesh/C563015
property_value: exactMatch http://identifiers.org/omim/128700

[Term]
id: MONDO:0007502
name: ear pits, posterior helical
synonym: "ear pits, posterior helical" EXACT [OMIM:128710]
synonym: "earlobe Indentations, posterior" RELATED [OMIM:128710]
synonym: "posterior helical Ear pits" RELATED [OMIM:128710]
xref: OMIM:128710 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851900
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276675
property_value: exactMatch http://identifiers.org/omim/128710

[Term]
id: MONDO:0007503
name: ear without helix
synonym: "ear without helix" EXACT [OMIM:128800]
xref: OMIM:128800 {source="MONDO:equivalentTo"}
is_a: MONDO:0010920 {source="ORDO:83463/btnt"} ! microtia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851899
property_value: exactMatch http://identifiers.org/omim/128800

[Term]
id: MONDO:0007504
name: thickened earlobes-conductive deafness syndrome
def: "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." [Orphanet:2405]
subset: ordo_malformation_syndrome {source="Orphanet:2405"}
synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [OMIM:128980]
synonym: "Escher Hirt syndrome" RELATED [GARD:0002195]
synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405]
xref: GARD:0002195 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H90.0 {source="ORDO:2405/attributed", source="ORDO:2405/ntbt", source="Orphanet:2405"}
xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="ORDO:2405/e"}
xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"}
xref: SCTID:722476007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019589 {source="Orphanet:2405"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851896
property_value: exactMatch http://identifiers.org/omim/128980
property_value: exactMatch http://identifiers.org/snomedct/722476007
property_value: exactMatch Orphanet:2405

[Term]
id: MONDO:0007505
name: earring holes, natural
synonym: "earlobe sinuses" RELATED [OMIM:129000]
synonym: "earring holes, natural" EXACT [OMIM:129000]
xref: OMIM:129000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851895
property_value: exactMatch http://identifiers.org/omim/129000

[Term]
id: MONDO:0007506
name: echo virus 11 sensitivity
synonym: "E11S" RELATED [MESH:C565071, MONDO:Lexical, OMIM:129150]
synonym: "echo virus 11 sensitivity" EXACT [MONDO:Lexical, OMIM:129150]
synonym: "echo virus 11 sensitivity; E11S" RELATED [OMIM:129150]
xref: MESH:C565071 {source="MONDO:equivalentTo"}
xref: OMIM:129150 {source="MONDO:equivalentTo"}
xref: UMLS:C1851888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:129150"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
relationship: predisposes_towards MONDO:0005740 ! Echovirus infectious disease
property_value: exactMatch http://identifiers.org/mesh/C565071
property_value: exactMatch http://identifiers.org/omim/129150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851888

[Term]
id: MONDO:0007507
name: absence of fingerprints-congenital milia syndrome
def: "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." [Orphanet:1658]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1658"}
synonym: "absence of dermatoglyphics congenital milia" RELATED [GARD:0002336]
synonym: "absence of dermatoglyphics-congenital milia syndrome" EXACT [Orphanet:1658]
synonym: "absence of fingerprints congenital milia" RELATED [GARD:0002336]
synonym: "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" RELATED [GARD:0002336, OMIM:129200]
synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658]
synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200]
synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200]
xref: GARD:0002336 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:1658/attributed", source="ORDO:1658/ntbt", source="Orphanet:1658"}
xref: MESH:C537659 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129200 {source="MONDO:equivalentTo", source="ORDO:1658/e", source="Orphanet:1658"}
xref: Orphanet:1658 {source="OMIM:129200", source="GARD:0002336", source="MONDO:equivalentTo"}
xref: SCTID:239011004 {source="MONDO:kboom-pr-0.75/0.46/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:1658"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:1658"} ! other genetic epidermal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406707
property_value: closeMatch Orphanet:1235
property_value: exactMatch http://identifiers.org/mesh/C537659
property_value: exactMatch http://identifiers.org/omim/129200
property_value: exactMatch http://identifiers.org/snomedct/239011004
property_value: exactMatch Orphanet:1658
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia xsd:anyURI {source="GARD:0002336"}

[Term]
id: MONDO:0007508
name: Rapp-Hodgkin syndrome
def: "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." [https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome, MONDO:cjm]
comment: Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum {source="GARD:0005690"}
subset: gard_rare {source="GARD:0005690"}
subset: speculative
synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [DOID:0060330]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400]
synonym: "ectodermal dysplasia, anhidrotic, with cleft lip-palate" RELATED [MESH:C535289]
synonym: "ectodermal dysplasia, anhidrotic, with cleft Lip/palate" RELATED [OMIM:129400]
synonym: "OFC8, included" RELATED [MESH:C535289]
synonym: "orofacial cleft 8" RELATED [OMIM:129400]
synonym: "Rapp-Hodgkin ectodermal dysplasia syndrome" RELATED [GARD:0005690]
synonym: "Rapp-Hodgkin syndrome" EXACT [MONDO:Lexical, OMIM:129400]
synonym: "Rapp-Hodgkin syndrome; RHS" RELATED [OMIM:129400]
synonym: "RHS" RELATED [MESH:C535289, MONDO:Lexical, OMIM:129400]
xref: DOID:0060330 {source="MONDO:equivalentTo"}
xref: GARD:0005690 {source="MONDO:equivalentTo"}
xref: MESH:C535289 {source="MONDO:equivalentTo"}
xref: OMIM:129400 {source="DOID:0060330", source="MONDO:equivalentTo", source="MEDIC:C535289"}
xref: Orphanet:3022 {source="DOID:0060330", source="OMIM:129400", source="MONDO:obsoleteEquivalent"}
xref: SCTID:7731005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.42/0.22"}
xref: UMLS:CN203427 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0060330", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0004747 {source="MESH:C535289"} ! cleft lip (disease)
is_a: MONDO:0016064 {source="MESH:C535289"} ! cleft palate
is_a: MONDO:0019287 {source="MESH:C535289", source="indirect", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851878
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851879
property_value: exactMatch DOID:0060330
property_value: exactMatch http://identifiers.org/mesh/C535289
property_value: exactMatch http://identifiers.org/omim/129400
property_value: exactMatch http://identifiers.org/snomedct/7731005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203427
property_value: exactMatch Orphanet:3022
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome xsd:anyURI {source="GARD:0005690"}

[Term]
id: MONDO:0007509
name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
synonym: "ECTD10A" RELATED [MONDO:Lexical, OMIM:129490]
synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129490]
synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; ECTD10A" RELATED [OMIM:129490]
synonym: "ectodermal dysplasia hypohidrotic autosomal dominant" RELATED [GARD:0002048]
synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:129490]
synonym: "hypohidrotic ectodermal dysplasia autosomal dominant" RELATED [GARD:0002048]
xref: GARD:0002048 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:129490 {source="MONDO:equivalentTo"}
xref: UMLS:C3888065 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015884 {source="ORDO:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720965
property_value: exactMatch http://identifiers.org/omim/129490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888065

[Term]
id: MONDO:0007510
name: Clouston syndrome
def: "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." [Orphanet:189]
subset: do_inheritance_inconsistent
subset: gard_rare
subset: ordo_disease {source="Orphanet:189"}
synonym: "alopecia, dysplastic nails, palmar and plantar hyperkeratosis" RELATED [GARD:0004253]
synonym: "autosomal dominant hidrotic ectodermal dysplasia" RELATED [GARD:0002056]
synonym: "Clouston hidrotic ectodermal dysplasia" RELATED [OMIM:129500]
synonym: "Clouston syndrome" EXACT [OMIM:129500, Orphanet:189]
synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [DOID:14693]
synonym: "Clouston's syndrome" EXACT [CSP2005:1254-7727, DOID:14693]
synonym: "ectodermal dysplasia 2, Clouston type" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic" RELATED [GARD:0002056]
synonym: "ectodermal dysplasia, hidrotic, 2" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic, 2, formerly" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic, autosomal dominant" RELATED [OMIM:129500]
synonym: "ED2" RELATED [GARD:0002056]
synonym: "hidrotic ectodermal dysplasia" EXACT [DOID:14693, Orphanet:189-text]
synonym: "hidrotic ectodermal dysplasia syndrome" EXACT [DOID:14693]
synonym: "hidrotic ectodermal dysplasia, autosomal dominant" RELATED [GARD:0002056]
synonym: "palmoplantar hyperkeratosis and alopecia" RELATED [GARD:0004253]
synonym: "Patel Bixler syndrome" RELATED [GARD:0004253]
xref: DOID:14693 {source="MONDO:equivalentTo"}
xref: GARD:0002056 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0004253 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:189/attributed", source="ORDO:189/ntbt", source="Orphanet:189"}
xref: OMIM:129500 {source="MONDO:equivalentTo", source="DOID:14693", source="ORDO:189/e", source="GARD:0004253", source="Orphanet:189"}
xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"}
xref: SCTID:54209007 {source="MONDO:equivalentTo", source="DOID:14693", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019287 {source="MONDOLEX:0007510", source="OMIM:129500", source="Orphanet:189", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020094 {source="Orphanet:189"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0044975 ! disease of transporter activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931169
property_value: exactMatch DOID:14693
property_value: exactMatch http://identifiers.org/omim/129500
property_value: exactMatch http://identifiers.org/snomedct/54209007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162361
property_value: exactMatch Orphanet:189

[Term]
id: MONDO:0007511
name: ectodermal dysplasia, trichoodontoonychial type
def: "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." [Orphanet:1818]
subset: gard_rare {source="GARD:0002055"}
subset: ordo_malformation_syndrome {source="Orphanet:1818"}
synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055]
synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510]
xref: GARD:0002055 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="Orphanet:1818", source="ORDO:1818/attributed", source="ORDO:1818/ntbt"}
xref: MESH:C565068 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="ORDO:1818/e"}
xref: Orphanet:1818 {source="OMIM:129510", source="MONDO:equivalentTo"}
xref: SCTID:734018003 {source="MONDO:equivalentTo"}
xref: UMLS:C1851858 {source="Orphanet:1818", source="OMIM:129510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:1818"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C565068", source="MONDOLEX:0007511", source="Orphanet:1818"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565068
property_value: exactMatch http://identifiers.org/omim/129510
property_value: exactMatch http://identifiers.org/snomedct/734018003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851858
property_value: exactMatch Orphanet:1818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type xsd:anyURI {source="GARD:0002055"}

[Term]
id: MONDO:0007512
name: ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
synonym: "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" EXACT [OMIM:129540]
xref: MESH:C565067 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129540 {source="MONDO:equivalentTo"}
xref: UMLS:C1851851 {source="OMIM:129540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565067/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565067
property_value: exactMatch http://identifiers.org/omim/129540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851851

[Term]
id: MONDO:0007513
name: ectodermal dysplasia with adrenal cyst
synonym: "ectodermal dysplasia with adrenal cyst" EXACT [OMIM:129550]
synonym: "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome" EXACT [Orphanet:3391]
xref: MESH:C538015 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129550 {source="MONDO:equivalentTo"}
xref: Orphanet:3391 {source="MONDO:equivalentTo", source="OMIM:129550"}
xref: UMLS:C1851850 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:129550"}
is_a: MONDO:0003847 {source="MESH:C538015/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538015
property_value: exactMatch http://identifiers.org/omim/129550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851850
property_value: exactMatch Orphanet:3391

[Term]
id: MONDO:0007514
name: ectopia lentis 1, isolated, autosomal dominant
def: "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [DOID:0111150]
synonym: "ECTOL1" EXACT [DOID:0111150, MONDO:Lexical, OMIM:129600]
synonym: "ectopia lentis 1, isolated, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129600]
synonym: "ectopia lentis 1, isolated, autosomal dominant; ECTOL1" RELATED [OMIM:129600]
synonym: "FBN1 isolated ectopia lentis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated ectopia lentis caused by mutation in FBN1" EXACT [MONDO:design_pattern]
xref: DOID:0111150 {source="MONDO:equivalentTo"}
xref: OMIM:129600 {source="MONDO:equivalentTo", source="DOID:0111150"}
xref: UMLS:C3541518 {source="OMIM:129600", source="MONDO:equivalentTo"}
xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/15054843 {source="DOID:0111150"}
is_a: MONDO:0015998 {source="DC-OMIM:129600", source="DOID:0111150", source="MONDO:Redundant", source="OMIM:129600"} ! isolated ectopia lentis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851286
property_value: exactMatch DOID:0111150
property_value: exactMatch http://identifiers.org/omim/129600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541518

[Term]
id: MONDO:0007515
name: ectopia pupillae (disease)
synonym: "congenital eye malformation in which the pupils are displaced from their normal central position" RELATED [GARD:0008490]
synonym: "ectopia pupillae" EXACT [MONDO:ambiguous, OMIM:129750]
synonym: "familial ectopic pupil" RELATED [GARD:0008490]
xref: GARD:0008490 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0009918 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C536185 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129750 {source="MONDO:equivalentTo"}
xref: SCTID:193523008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.02"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1271219
property_value: exactMatch http://identifiers.org/mesh/C536185
property_value: exactMatch http://identifiers.org/omim/129750
property_value: exactMatch http://identifiers.org/snomedct/193523008

[Term]
id: MONDO:0007516
name: ectrodactyly and ectodermal dysplasia without cleft lip/palate
synonym: "ectrodactyly and ectodermal dysplasia without cleft lip/palate" EXACT [OMIM:129810]
synonym: "ectrodactyly-ectodermal dysplasia without clefting syndrome" EXACT [Orphanet:1888]
synonym: "EEC syndrome without cleft Lip/palate" RELATED [OMIM:129810]
xref: MESH:C565065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129810 {source="MONDO:equivalentTo"}
xref: Orphanet:1888 {source="MONDO:equivalentTo", source="OMIM:129810"}
xref: UMLS:C1851849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:129810"}
is_a: MONDO:0003847 {source="MESH:C565065/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565065
property_value: exactMatch http://identifiers.org/omim/129810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851849
property_value: exactMatch Orphanet:1888

[Term]
id: MONDO:0007517
name: ectrodactyly-cleft palate syndrome
synonym: "Ecp syndrome" RELATED [OMIM:129830]
synonym: "ectrodactyly-cleft palate syndrome" EXACT [OMIM:129830]
xref: MESH:C565064 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129830 {source="MONDO:equivalentTo"}
xref: Orphanet:1889 {source="OMIM:129830", source="MONDO:equivalentTo"}
xref: UMLS:C1851848 {source="NCBI:mim2gene_medline", source="OMIM:129830", source="MONDO:equivalentTo"}
xref: UMLS:CN229012 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565064
property_value: exactMatch http://identifiers.org/omim/129830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229012
property_value: exactMatch Orphanet:1889

[Term]
id: MONDO:0007518
name: edema, familial idiopathic, prepubertal
synonym: "edema, familial idiopathic, prepubertal" EXACT [OMIM:129840]
xref: MESH:C565063 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129840 {source="MONDO:equivalentTo"}
xref: UMLS:C1851847 {source="OMIM:129840", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565063
property_value: exactMatch http://identifiers.org/omim/129840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851847

[Term]
id: MONDO:0007519
name: Edinburgh malformation syndrome
def: "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991." [Orphanet:1895]
subset: gard_rare {source="GARD:0002074"}
subset: ordo_malformation_syndrome {source="Orphanet:1895"}
synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850]
synonym: "typus Edinburgensis" EXACT [Orphanet:1895]
xref: GARD:0002074 {source="MONDO:equivalentTo"}
xref: ICD10:Q95.2 {source="Orphanet:1895", source="ORDO:1895/attributed", source="ORDO:1895/ntbt"}
xref: MESH:C563051 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129850 {source="Orphanet:1895", source="ORDO:1895/e", source="MONDO:equivalentTo"}
xref: Orphanet:1895 {source="OMIM:129850", source="MONDO:equivalentTo"}
xref: UMLS:C0795933 {source="OMIM:129850", source="Orphanet:1895", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0043009 {source="Orphanet:1895"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C563051
property_value: exactMatch http://identifiers.org/omim/129850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795933
property_value: exactMatch Orphanet:1895
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome xsd:anyURI {source="GARD:0002074"}

[Term]
id: MONDO:0007520
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
def: "An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3." [DOID:0060784, PMID:1424230, PMID:5454938]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" EXACT [DOID:0060784, MONDORULE:1]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1" RELATED [MONDO:Lexical, OMIM:129900]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1; EEC1" RELATED [OMIM:129900]
synonym: "EEC" RELATED [OMIM:129900]
synonym: "EEC syndrome 1" EXACT [DOID:0060784, OMIM:129900]
synonym: "EEC1" EXACT [DOID:0060784, MONDO:Lexical, OMIM:129900]
xref: DOID:0060784 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="DOID:0060784"}
xref: MESH:C565062 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:129900 {source="DOID:0060784", source="MONDO:equivalentTo"}
is_a: MONDO:0010004 {source="DC-OMIM:129900", source="DOID:0060784"} ! EEC syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851841
property_value: exactMatch DOID:0060784
property_value: exactMatch http://identifiers.org/mesh/C565062
property_value: exactMatch http://identifiers.org/omim/129900

[Term]
id: MONDO:0007521
name: egasyn
synonym: "egasyn" EXACT [OMIM:129905]
synonym: "esterase 22" RELATED [OMIM:129905]
xref: OMIM:129905 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0058967
property_value: exactMatch http://identifiers.org/omim/129905

[Term]
id: MONDO:0007522
name: Ehlers-Danlos syndrome, classic type
def: "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." [Orphanet:287]
subset: ordo_disease {source="Orphanet:287"}
synonym: "classic Ehlers-Danlos syndrome" RELATED [GARD:0002088]
synonym: "classical Ehlers-Danlos syndrome" RELATED [GARD:0002088]
synonym: "EDS I" RELATED DEPRECATED [OMIM:130000]
synonym: "EDS I, formerly" RELATED [OMIM:130000]
synonym: "EDS II" RELATED DEPRECATED [OMIM:130000]
synonym: "EDS II, formerly" RELATED [OMIM:130000]
synonym: "EDS, classic type" EXACT [Orphanet:287]
synonym: "EDSCL1" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mild classic type" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mild classic type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome classic type" EXACT []
synonym: "Ehlers-Danlos syndrome classical type" RELATED []
synonym: "Ehlers-Danlos syndrome type 1 (formerly)" RELATED DEPRECATED [GARD:0002088]
synonym: "Ehlers-Danlos syndrome type 2" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome type 2 (formerly)" RELATED DEPRECATED [GARD:0002088]
synonym: "Ehlers-Danlos syndrome, classic type" EXACT [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, classic type, 1" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, classic type, 1; EDSCL1" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, gravis type" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, gravis type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, severe classic type" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, severe classic type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000]
xref: GARD:0002088 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:287/attributed", source="ORDO:287/ntbt", source="Orphanet:287"}
xref: OMIM:130000 {source="MONDO:equivalentTo", source="ORDO:287/e", source="Orphanet:287"}
xref: Orphanet:287 {source="MONDO:equivalentTo", source="OMIM:130000"}
xref: SCTID:715318006 {source="MONDO:equivalentTo"}
xref: UMLS:C4225429 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015216 {source="Orphanet:287"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015669 {source="Orphanet:287"} ! rare disease with dentinogenesis imperfecta
is_a: MONDO:0015880 {source="Orphanet:287"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0020066 {source="DC-OMIM:130000", source="MONDOLEX:0007522", source="OMIM:130000", source="Orphanet:287", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/omim/130000
property_value: exactMatch http://identifiers.org/snomedct/715318006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225429
property_value: exactMatch Orphanet:287

[Term]
id: MONDO:0007523
name: Ehlers-Danlos syndrome, hypermobility type
def: "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." [Orphanet:285]
subset: ordo_disease {source="Orphanet:285"}
synonym: "benign hypermobility syndrome" RELATED [OMIM:130020]
synonym: "benign joint hypermobility syndrome" EXACT [Orphanet:285]
synonym: "BJHS" EXACT [Orphanet:285]
synonym: "EDS 3" RELATED [OMIM:130020]
synonym: "EDS III" EXACT [Orphanet:285]
synonym: "EDS3 (formerly)" RELATED DEPRECATED [GARD:0002081]
synonym: "EDSHMB" RELATED [OMIM:130020]
synonym: "Ehlers-Danlos syndrome type 3" EXACT [Orphanet:285]
synonym: "Ehlers-Danlos syndrome type 3 (formerly)" EXACT [GARD:0002081]
synonym: "Ehlers-Danlos syndrome, hypermobile type" EXACT [Orphanet:285]
synonym: "Ehlers-Danlos syndrome, hypermobility type" EXACT [OMIM:130020]
synonym: "Ehlers-Danlos syndrome, hypermobility type; EDSHMB" EXACT [OMIM:130020]
synonym: "Ehlers-Danlos syndrome, type 3" EXACT [OMIM:130020]
synonym: "Ehlers-Danlos syndrome, type III" EXACT [NCIT:C125698]
synonym: "hEDS" RELATED [GARD:0002081]
synonym: "HT-EDS" EXACT [Orphanet:285]
synonym: "hypermobile EDS" RELATED [GARD:0002081]
synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081]
xref: DOID:14757 {source="MONDO:equivalentTo"}
xref: GARD:0002081 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:285/attributed", source="ORDO:285/ntbt", source="Orphanet:285"}
xref: MESH:C536196 {source="DOID:14757", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125698 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: OMIM:130020 {source="DOID:14757", source="MONDO:equivalentTo", source="ORDO:285/e", source="Orphanet:285"}
xref: Orphanet:285 {source="MONDO:equivalentTo", source="OMIM:130020"}
xref: SCTID:30652003 {source="DOID:14757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268337 {source="DOID:14757", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130020", source="NCIT:C125698", source="Orphanet:285"}
is_a: MONDO:0020066 {source="DC-OMIM:130020", source="DOID:14757", source="MESH:C536196", source="MONDOLEX:0007523", source="NCIT:C125698", source="OMIM:130020", source="Orphanet:285", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch DOID:14757
property_value: exactMatch http://identifiers.org/mesh/C536196
property_value: exactMatch http://identifiers.org/omim/130020
property_value: exactMatch http://identifiers.org/snomedct/30652003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268337
property_value: exactMatch NCIT:C125698
property_value: exactMatch Orphanet:285

[Term]
id: MONDO:0007524
name: autosomal dominant Ehlers-Danlos syndrome, vascular type
def: "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." [https://www.ncbi.nlm.nih.gov/books/NBK1494/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/​, MONDO:pr]
synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" RELATED [DOID:14756]
synonym: "EDS 4" BROAD [OMIM:130050]
synonym: "EDSVASC" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, arterial type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, Ecchymotic type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, sack-Barabas type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, type IV, autosomal dominant" EXACT [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, vascular type" BROAD [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, vascular type, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Ehlers-Danlos syndrome, vascular type; EDSVASC" RELATED [OMIM:130050]
xref: DOID:14756 {source="MONDO:equivalentTo"}
xref: OMIM:130050 {source="DOID:14756", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="MONDOLEX:0007524", source="Orphanet:286"} ! Ehlers-Danlos syndrome, vascular type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268338
property_value: exactMatch DOID:14756
property_value: exactMatch http://identifiers.org/omim/130050

[Term]
id: MONDO:0007525
name: Ehlers-Danlos syndrome, arthrochalasis type
def: "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen . Common symptoms include severe joint hypermobility ; congenital hip dislocation ; fragile, hyperextensible skin ; hypotonia ; and kyphoscoliosis ( kyphosis and scoliosis ).EDS, arthrochalasia type is caused by changes ( mutations ) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." [GARD:0002084]
subset: gard_rare {source="GARD:0002084"}
subset: ordo_disease {source="Orphanet:1899"}
synonym: "AEDS" RELATED [GARD:0002084]
synonym: "arthrochalasia EDS" RELATED [GARD:0002084]
synonym: "arthrochalasia Ehlers-Danlos syndrome" RELATED [GARD:0002084]
synonym: "arthrochalasis multiplex congenita" RELATED [GARD:0002084, MESH:C562625, OMIM:130060]
synonym: "EDS 7A" NARROW [OMIM:130060]
synonym: "EDS 7B" NARROW [OMIM:130060]
synonym: "EDS VII" EXACT [Orphanet:1899]
synonym: "EDS VII, mutant procollagen type" RELATED [OMIM:130060]
synonym: "EDS7A (formerly)" RELATED DEPRECATED [GARD:0002084]
synonym: "EDSARTH1" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome type 7" EXACT [Orphanet:1899]
synonym: "Ehlers-Danlos syndrome type 7A (formerly)" RELATED DEPRECATED [GARD:0002084]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [GARD:0002084, MESH:C562625, OMIM:130060, Orphanet:1899]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1; EDSARTH1" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701]
synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060]
xref: GARD:0002084 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:1899/attributed", source="ORDO:1899/ntbt", source="Orphanet:1899"}
xref: MESH:C562625 {source="MONDO:equivalentTo"}
xref: NCIT:C125701 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: OMIM:130060 {source="MONDO:equivalentTo", source="Orphanet:1899", source="ORDO:1899/e", source="GARD:0002084"}
xref: Orphanet:1899 {source="OMIM:130060", source="MONDO:equivalentTo", source="GARD:0002084"}
xref: SCTID:4170004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.31/0.27"}
xref: UMLS:CN200649 {source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="DC-OMIM:130060", source="MESH:C562625", source="MONDOLEX:0007525", source="NCIT:C125701", source="OMIM:130060", source="Orphanet:1899", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268345
property_value: exactMatch http://identifiers.org/mesh/C562625
property_value: exactMatch http://identifiers.org/omim/130060
property_value: exactMatch http://identifiers.org/snomedct/4170004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200649
property_value: exactMatch NCIT:C125701
property_value: exactMatch Orphanet:1899
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome xsd:anyURI {source="GARD:0002084"}

[Term]
id: MONDO:0007526
name: Ehlers-Danlos syndrome progeroid type
def: "Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." [Orphanet:75496]
subset: ordo_disease {source="Orphanet:75496"}
synonym: "B4GALT7-CDG" EXACT [Orphanet:75496]
synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [Orphanet:75496]
synonym: "defective biosynthesis of proteodermatan sulfate" RELATED [DOID:0050802]
synonym: "dermatan sulfate proteoglycan" RELATED [OMIM:130070]
synonym: "EDS, progeroid type" EXACT [Orphanet:75496]
synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type" RELATED [Orphanet:75496]
synonym: "Ehlers-Danlos syndrome, progeroid type (former)" RELATED [GARD:0009991]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" NARROW EXCLUDE [DOID:0050802]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1" RELATED [OMIM:130070]
synonym: "galactosyltransferase 1 deficiency" RELATED [OMIM:130070]
synonym: "galactosyltransferase I deficiency" EXACT [Orphanet:75496]
synonym: "PDS" EXACT [Orphanet:75496]
synonym: "Pds, defective biosynthesis of" RELATED [OMIM:130070]
synonym: "proteodermatan sulfate, defective biosynthesis of" RELATED [OMIM:130070]
synonym: "spondylodysplastic Ehlers-Danlos syndrome" RELATED [GARD:0009991]
synonym: "XGPT deficiency" EXACT [DOID:0050802, OMIM:130070, Orphanet:75496]
synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" EXACT [DOID:0050802, OMIM:130070, Orphanet:75496]
xref: DOID:0050802 {source="MONDO:equivalentTo"}
xref: GARD:0009991 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:75496/attributed", source="ORDO:75496/ntbt", source="Orphanet:75496"}
xref: MESH:C536201 {source="MONDO:equivalentTo", source="DOID:0050802", source="MONDO:ontobio", source="ORDO:75496/e", source="Orphanet:75496"}
xref: Orphanet:75496 {source="OMIM:130070", source="MONDO:equivalentTo", source="DOID:0050802"}
xref: SCTID:720861000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1869122 {source="MEDGEN:kboom-pr97-c99", source="OMIM:130070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050802", source="ORDO:75496/e", source="Orphanet:75496"}
is_a: MONDO:0017742 {source="Orphanet:75496"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018292 {source="Orphanet:75496"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0018293 {source="Orphanet:75496"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0019704 {source="Orphanet:75496"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0020066 {source="DC-OMIM:130070", source="DOID:0050802", source="MESH:C536201", source="MONDOLEX:0007526", source="OMIM:130070", source="Orphanet:75496", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch DOID:0050802
property_value: exactMatch http://identifiers.org/mesh/C536201
property_value: exactMatch http://identifiers.org/snomedct/720861000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1869122
property_value: exactMatch Orphanet:75496

[Term]
id: MONDO:0007527
name: Ehlers-Danlos syndrome, periodontitis type
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." [Orphanet:75392]
subset: ordo_disease {source="Orphanet:75392"}
synonym: "EDS 8" RELATED [OMIM:130080]
synonym: "EDS VIII" EXACT [Orphanet:75392]
synonym: "EDS VIII (formerly)" RELATED [GARD:0012474]
synonym: "EDS8" RELATED [OMIM:130080]
synonym: "EDS8 (formerly)" RELATED [GARD:0012474]
synonym: "Ehlers-Danlos syndrome type 8" EXACT [Orphanet:75392]
synonym: "Ehlers-Danlos syndrome type 8 (formerly)" RELATED [GARD:0012474]
synonym: "Ehlers-Danlos syndrome, periodontitis type" EXACT [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type VIII" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type VIII (formerly)" RELATED [GARD:0012474]
synonym: "pEDS" RELATED [GARD:0012474]
synonym: "periodontal EDS" RELATED [GARD:0012474]
synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474]
xref: GARD:0012474 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:75392/attributed", source="ORDO:75392/ntbt", source="Orphanet:75392"}
xref: MESH:C562626 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"}
xref: SCTID:50869007 {source="MONDO:kboom-pr-1.00/0.80/8.91", source="MONDO:equivalentTo"}
is_a: MONDO:0020014 {source="Orphanet:75392"} ! rare disease with odontological manifestation
is_a: MONDO:0020066 {source="DC-OMIM:130080", source="MESH:C562626", source="MONDOLEX:0007527", source="OMIM:130080", source="Orphanet:75392", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268347
property_value: exactMatch http://identifiers.org/mesh/C562626
property_value: exactMatch http://identifiers.org/omim/130080
property_value: exactMatch http://identifiers.org/snomedct/50869007
property_value: exactMatch Orphanet:75392

[Term]
id: MONDO:0007528
name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified
synonym: "EDS, unspecified type" RELATED [OMIM:130090]
synonym: "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" EXACT [OMIM:130090]
synonym: "Ehlers-Danlos syndrome, Friedman-Harrod type" RELATED [OMIM:130090]
xref: MESH:C562424 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:130090 {source="MONDO:equivalentTo"}
xref: UMLS:C0220679 {source="OMIM:130090", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="MESH:C562424", source="MONDOLEX:0007528"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C562424
property_value: exactMatch http://identifiers.org/omim/130090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220679

[Term]
id: MONDO:0007529
name: elastosis perforans serpiginosa
comment: Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD
subset: gard_rare {source="GARD:0010103"}
subset: ordo_disease {source="Orphanet:79148"}
synonym: "elastoma Intrapapillare perforans verruciformis" RELATED [OMIM:130100]
synonym: "elastosis perforans serpiginosa" EXACT [MONDO:Lexical, OMIM:130100]
synonym: "elastosis perforans serpiginosa; eps" RELATED [OMIM:130100]
synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100]
synonym: "Miescher elastoma" RELATED [OMIM:130100]
xref: GARD:0010103 {source="MONDO:equivalentTo"}
xref: ICD10:L87.2 {source="MONDO:equivalentTo", source="ORDO:79148/ntbt", source="Orphanet:79148"}
xref: MedDRA:10014338 {source="ORDO:79148/e", source="Orphanet:79148"}
xref: MESH:C536202 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79148/e", source="Orphanet:79148"}
xref: OMIM:130100 {source="MONDO:equivalentTo", source="ORDO:79148/e", source="Orphanet:79148"}
xref: Orphanet:79148 {source="MONDO:equivalentTo", source="OMIM:130100"}
xref: SCTID:49428008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0221271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130100", source="ORDO:79148/e", source="Orphanet:79148"}
is_a: MONDO:0019292 {source="MONDO:cjm", source="Orphanet:79148/inferred", source="https://github.com/Orphanet/ORDO/issues/3"} ! dermis elastic tissue disorder
relationship: excluded_subClassOf MONDO:0016436 {source="Orphanet:79148"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch http://identifiers.org/meddra/10014338
property_value: exactMatch http://identifiers.org/mesh/C536202
property_value: exactMatch http://identifiers.org/omim/130100
property_value: exactMatch http://identifiers.org/snomedct/49428008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221271
property_value: exactMatch Orphanet:79148
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa xsd:anyURI {source="GARD:0010103"}

[Term]
id: MONDO:0007530
name: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
synonym: "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" EXACT [OMIM:130200]
xref: OMIM:130200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851757
property_value: exactMatch http://identifiers.org/omim/130200

[Term]
id: MONDO:0007531
name: electroencephalographic peculiarity: fronto-precentral beta wave groups
synonym: "electroencephalographic peculiarity: fronto-precentral beta wave groups" EXACT [OMIM:130300]
xref: OMIM:130300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851756
property_value: exactMatch http://identifiers.org/omim/130300

[Term]
id: MONDO:0007532
name: Electroencephalographic peculiarity: occipital slow beta waves
synonym: "Electroencephalographic peculiarity: occipital slow beta waves" EXACT [OMIM:130400]
xref: OMIM:130400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851755
property_value: exactMatch http://identifiers.org/omim/130400

[Term]
id: MONDO:0007533
name: elliptocytosis 2
def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EL2" RELATED [MONDO:Lexical, OMIM:130600]
synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600]
synonym: "elliptocytosis 2; EL2" RELATED [OMIM:130600]
synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600]
synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600]
synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern]
synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565058 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:130600 {source="MONDO:equivalentTo"}
xref: UMLS:C1851741 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130600"}
is_a: MONDO:0017319 {source="DC-OMIM:130600", source="MESH:C565058", source="MONDO:Redundant"} ! hereditary elliptocytosis
property_value: exactMatch http://identifiers.org/mesh/C565058
property_value: exactMatch http://identifiers.org/omim/130600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851741

[Term]
id: MONDO:0007534
name: Beckwith-Wiedemann syndrome
def: "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." [Orphanet:116]
subset: gard_rare {source="GARD:0003343"}
subset: ordo_malformation_syndrome {source="Orphanet:116"}
synonym: "Beckwith-Wiedemann syndrome" EXACT [MONDO:Lexical, NCIT:C34415, OMIM:130650]
synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [OMIM:130650]
synonym: "Beckwith-Wiedemann syndrome; BWS" RELATED [OMIM:130650]
synonym: "BWS" EXACT [Orphanet:116]
synonym: "BWS" RELATED [MONDO:Lexical, OMIM:130650]
synonym: "EMG syndrome" RELATED [OMIM:130650]
synonym: "exomphalos macroglossia gigantism syndrome" RELATED [GARD:0003343]
synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [OMIM:130650, Orphanet:116]
synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116]
synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343]
xref: DOID:5572 {source="MONDO:equivalentTo"}
xref: GARD:0003343 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="Orphanet:116", source="ORDO:116/inclusion", source="ORDO:116/ntbt", source="DOID:5572"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050344 {source="Orphanet:116", source="ORDO:116/e"}
xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:116/e", source="DOID:5572"}
xref: NCIT:C34415 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5572"}
xref: OMIM:130650 {source="Orphanet:116", source="MONDO:equivalentTo", source="ORDO:116/e", source="DOID:5572"}
xref: Orphanet:116 {source="MONDO:equivalentTo", source="OMIM:130650", source="DOID:5572"}
xref: SCTID:81780002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.85", source="DOID:5572"}
xref: UMLS:C0004903 {source="Orphanet:116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130650", source="NCIT:C34415", source="ORDO:116/e", source="DOID:5572"}
is_a: MONDO:0015496 {source="Orphanet:116"} ! macroglossia
is_a: MONDO:0015501 {source="Orphanet:116"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015945 {source="Orphanet:116"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016329 {source="Orphanet:116"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0017891 {source="Orphanet:116"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019716 {source="Orphanet:116"} ! overgrowth syndrome
is_a: MONDO:0019721 {source="Orphanet:116"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851719
property_value: exactMatch DOID:5572
property_value: exactMatch http://identifiers.org/meddra/10050344
property_value: exactMatch http://identifiers.org/mesh/D001506
property_value: exactMatch http://identifiers.org/omim/130650
property_value: exactMatch http://identifiers.org/snomedct/81780002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004903
property_value: exactMatch NCIT:C34415
property_value: exactMatch Orphanet:116
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome xsd:anyURI {source="GARD:0003343"}

[Term]
id: MONDO:0007535
name: emphysema, hereditary pulmonary
synonym: "emphysema, hereditary pulmonary" EXACT [OMIM:130700]
xref: MESH:C565057 {source="MONDO:equivalentTo"}
xref: OMIM:130700 {source="MONDO:equivalentTo"}
xref: UMLS:C1851718 {source="OMIM:130700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004849 {source="MESH:C565057"} ! pulmonary emphysema
property_value: exactMatch http://identifiers.org/mesh/C565057
property_value: exactMatch http://identifiers.org/omim/130700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851718

[Term]
id: MONDO:0007536
name: congenital lobar emphysema
def: "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." [Orphanet:1928]
subset: ordo_morphological_anomaly {source="Orphanet:1928"}
synonym: "CLE" RELATED [MONDO:Lexical, OMIM:130710]
synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928]
synonym: "emphysema, congenital lobar" RELATED [MONDO:Lexical, OMIM:130710]
synonym: "emphysema, congenital lobar; CLE" RELATED [OMIM:130710]
synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928]
xref: GARD:0002104 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q33.8 {source="Orphanet:1928", source="ORDO:1928/attributed", source="ORDO:1928/ntbt"}
xref: MedDRA:10010456 {source="Orphanet:1928", source="ORDO:1928/e"}
xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1928/e"}
xref: NCIT:C98895 {source="MONDO:kboom-pr-0.95/0.86/1.06", source="MONDO:equivalentTo"}
xref: OMIM:130710 {source="Orphanet:1928", source="MONDO:equivalentTo", source="ORDO:1928/e"}
xref: Orphanet:1928 {source="MONDO:equivalentTo", source="OMIM:130710"}
xref: SCTID:66987001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265797 {source="Orphanet:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98895", source="OMIM:130710", source="ORDO:1928/e"}
is_a: MONDO:0004849 {source="DC-OMIM:130710", source="MESH:C535735", source="MONDO:Redundant", source="NCIT:C98895"} ! pulmonary emphysema
is_a: MONDO:0015930 {source="Orphanet:1928"} ! respiratory malformation
is_a: MONDO:0020023 {source="Orphanet:1928/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! respiratory or mediastinal malformation
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1928"} ! non-syndromic respiratory or mediastinal malformation
property_value: exactMatch http://identifiers.org/meddra/10010456
property_value: exactMatch http://identifiers.org/mesh/C535735
property_value: exactMatch http://identifiers.org/omim/130710
property_value: exactMatch http://identifiers.org/snomedct/66987001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265797
property_value: exactMatch NCIT:C98895
property_value: exactMatch Orphanet:1928

[Term]
id: MONDO:0007537
name: lateral meningocele syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2789"}
synonym: "lateral meningocele syndrome" EXACT [MONDO:Lexical, OMIM:130720]
synonym: "lateral meningocele syndrome; LMNS" RELATED [OMIM:130720]
synonym: "Lehman syndrome" EXACT [OMIM:130720, Orphanet:2789]
synonym: "LMNS" RELATED [MONDO:Lexical, OMIM:130720]
synonym: "Lms" RELATED [OMIM:130720]
xref: GARD:0009873 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.5 {source="ORDO:2789/attributed", source="ORDO:2789/ntbt", source="Orphanet:2789"}
xref: MESH:C537878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:130720 {source="MONDO:equivalentTo", source="ORDO:2789/e", source="Orphanet:2789"}
xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"}
xref: UMLS:C1851710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2789/e", source="Orphanet:2789", source="MEDGEN:kboom-pr92-c96", source="OMIM:130720"}
is_a: MONDO:0017085 {source="Orphanet:2789"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch http://identifiers.org/mesh/C537878
property_value: exactMatch http://identifiers.org/omim/130720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851710
property_value: exactMatch Orphanet:2789

[Term]
id: MONDO:0007538
name: amelogenesis imperfecta, type 3A
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:100032"}
synonym: "ADHCAI" EXACT [DOID:0110055]
synonym: "AI3" EXACT [DOID:0110055, MONDO:Lexical, OMIM:130900]
synonym: "AI3A" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta caused by mutation in FAM83H" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomineralization type" EXACT [DOID:0110055]
synonym: "amelogenesis imperfecta type 3" EXACT [Orphanet:100032]
synonym: "amelogenesis imperfecta type 3A" RELATED [DOID:0110055]
synonym: "amelogenesis imperfecta type III" EXACT [DOID:0110055]
synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, hypomineralization type" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type 3" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type 3A" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical, OMIM:130900]
synonym: "amelogenesis imperfecta, type III; AI3" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type IIIA; AI3A" RELATED [OMIM:130900]
synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055]
synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110055 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="Orphanet:100032", source="DOID:0110055", source="ORDO:100032/attributed", source="ORDO:100032/ntbt"}
xref: MESH:C562880 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:130900 {source="Orphanet:100032", source="MONDO:equivalentTo", source="DOID:0110055", source="ORDO:100032/e"}
xref: Orphanet:100032 {source="OMIM:130900", source="MONDO:equivalentTo"}
xref: SCTID:109471001 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0019507 {source="DC-OMIM:130900", source="DOID:0110055", source="MESH:C562880", source="MONDO:Redundant", source="OMIM:130900", source="Orphanet:100032", source="linkedlifedata"} ! amelogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399376
property_value: exactMatch DOID:0110055
property_value: exactMatch http://identifiers.org/mesh/C562880
property_value: exactMatch http://identifiers.org/omim/130900
property_value: exactMatch http://identifiers.org/snomedct/109471001
property_value: exactMatch Orphanet:100032

[Term]
id: MONDO:0007539
name: encephalopathy, recurrent, of childhood
subset: gard_rare
synonym: "encephalopathy recurrent of childhood" EXACT [MONDO:0023065]
synonym: "encephalopathy, recurrent, of childhood" EXACT [OMIM:130950]
synonym: "Neuhauser Eichner Opitz syndrome" RELATED [GARD:0003949]
xref: GARD:0002117 {source="MONDO:equivalentTo"}
xref: MESH:C536407 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:130950 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0005560 {source="DC-OMIM:130950", source="MESH:C536407/inferred"} ! brain disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851708
property_value: closeMatch Orphanet:2672
property_value: exactMatch http://identifiers.org/mesh/C536407
property_value: exactMatch http://identifiers.org/omim/130950
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood xsd:anyURI {source="GARD:0002117"}

[Term]
id: MONDO:0007540
name: multiple endocrine neoplasia type 1
def: "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." [Orphanet:652]
subset: gard_rare {source="GARD:0003829"}
subset: ordo_disease {source="Orphanet:652"}
synonym: "endocrine adenomatosis multiple" RELATED [GARD:0003829]
synonym: "endocrine adenomatosis, multiple" RELATED [OMIM:131100]
synonym: "MEA 1" RELATED [OMIM:131100]
synonym: "MEA type 1" EXACT [NCIT:C3225]
synonym: "MEA type I" EXACT [NCIT:C3225]
synonym: "men 1" EXACT [NCIT:C3225]
synonym: "men type 1" EXACT [NCIT:C3225]
synonym: "men type I" EXACT [DOID:10017, NCIT:C3225]
synonym: "MEN1" EXACT [Orphanet:652]
synonym: "MEN1" RELATED [MONDO:Lexical, OMIM:131100]
synonym: "MEN1 multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEN1 somatic mutations" RELATED [OMIM:131100]
synonym: "MEN1 syndrome" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis type 1" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis, type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia caused by mutation in MEN1" EXACT [MONDO:design_pattern]
synonym: "multiple endocrine neoplasia type 1" EXACT [DOID:10017, NCIT:C3225]
synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia, type 1" RELATED [OMIM:131100]
synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225, OMIM:131100]
synonym: "multiple endocrine neoplasia, type I; MEN1" RELATED [OMIM:131100]
synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet:652]
synonym: "Wermer's syndrome" EXACT [DOID:10017, MTHICD9_2006:258.0, NCIT:C3225]
xref: COHD:28127 {source="MONDO:equivalentTo"}
xref: DOID:10017 {source="MONDO:equivalentTo"}
xref: GARD:0003829 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="ORDO:652/attributed", source="ORDO:652/ntbt", source="Orphanet:652"}
xref: ICD10:E31.21 {source="DOID:10017"}
xref: ICD9:237.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:258.01 {source="DOID:10017", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028190 {source="ORDO:652/e", source="Orphanet:652"}
xref: MESH:D018761 {source="DOID:10017", source="MONDO:equivalentTo", source="ORDO:652/e", source="Orphanet:652"}
xref: NCIT:C3225 {source="DOID:10017", source="MONDO:equivalentTo"}
xref: OMIM:131100 {source="DOID:10017", source="MONDO:equivalentTo", source="ORDO:652/e", source="Orphanet:652"}
xref: Orphanet:652 {source="DOID:10017", source="MONDO:equivalentTo", source="OMIM:131100"}
xref: SCTID:30664006 {source="MONDO:kboom-pr-1.00/0.79/7.40", source="DOID:10017", source="MONDO:equivalentTo"}
xref: UMLS:C0025267 {source="DOID:10017", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131100", source="NCIT:C3225", source="ORDO:652/e", source="Orphanet:652"}
is_a: MONDO:0000426 {source="DOID:10017", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015077 {source="Orphanet:652"} ! adrenal/paraganglial tumor
is_a: MONDO:0016365 {source="Orphanet:652"} ! familial primary hyperparathyroidism
is_a: MONDO:0017169 {source="DC-OMIM:131100", source="MONDO:Redundant", source="NCIT:C3225", source="OMIM:131100", source="Orphanet:652", source="linkedlifedata"} ! multiple endocrine neoplasia
is_a: MONDO:0017820 {source="Orphanet:652"} ! disease with Cushing syndrome as a major feature
is_a: MONDO:0018538 {source="Orphanet:652"} ! inherited digestive cancer-predisposing syndrome
property_value: closeMatch http://identifiers.org/snomedct/190566000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149237
property_value: exactMatch DOID:10017
property_value: exactMatch http://identifiers.org/meddra/10028190
property_value: exactMatch http://identifiers.org/mesh/D018761
property_value: exactMatch http://identifiers.org/omim/131100
property_value: exactMatch http://identifiers.org/snomedct/30664006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025267
property_value: exactMatch NCIT:C3225
property_value: exactMatch Orphanet:652
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 xsd:anyURI {source="GARD:0003829"}

[Term]
id: MONDO:0007541
name: endometriosis, susceptibility to, 1
subset: predisposition
synonym: "Endo1" RELATED [OMIM:131200]
synonym: "endometriosis, susceptibility to, 1" EXACT [OMIM:131200]
synonym: "endometriosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:131200]
xref: OMIM:131200 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:131200"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005133 ! endometriosis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851649
property_value: exactMatch http://identifiers.org/omim/131200

[Term]
id: MONDO:0007542
name: Camurati-Engelmann disease
def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328]
subset: ordo_malformation_syndrome {source="Orphanet:1328"}
synonym: "CAEND" RELATED [MONDO:Lexical, OMIM:131300]
synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300]
synonym: "Camurati-Engelmann disease; CAEND" RELATED [OMIM:131300]
synonym: "Camurati-Engelmann syndrome" EXACT [NCIT:C84610]
synonym: "Camurati-Englemann disease" EXACT [NCIT:C84610]
synonym: "CED" RELATED [OMIM:131300]
synonym: "diaphyseal dysplasia" EXACT [DOID:4997]
synonym: "diaphyseal dysplasia 1, progressive" RELATED [OMIM:131300]
synonym: "DPD1" RELATED [GARD:0001072]
synonym: "Engelman's disease" EXACT [DOID:4997]
synonym: "Engelmann disease" RELATED [OMIM:131300]
synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328]
xref: DOID:4997 {source="MONDO:equivalentTo"}
xref: GARD:0001072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.3 {source="DOID:4997", source="ORDO:1328/e", source="Orphanet:1328", source="ORDO:1328/specific"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C84610 {source="MONDO:equivalentTo", source="DOID:4997", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:131300 {source="MONDO:equivalentTo", source="DOID:4997", source="ORDO:1328/e", source="Orphanet:1328"}
xref: Orphanet:1328 {source="MONDO:equivalentTo", source="OMIM:131300"}
xref: SCTID:318761000119105 {source="MONDO:equivalentTo", source="DOID:4997", source="MONDO:kboom-pr-0.96/0.76/2.35"}
xref: UMLS:C0011989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4997", source="ORDO:1328/e", source="OMIM:131300", source="Orphanet:1328", source="NCIT:C84610"}
is_a: MONDO:0002254 {source="MONDOLEX:0007542", source="NCIT:C84610"} ! syndromic disease
is_a: MONDO:0019703 {source="Orphanet:1328"} ! primary bone dysplasia with increased bone density
relationship: excluded_subClassOf MONDO:0002933 {source="DOID:4997"} ! osteosclerosis
property_value: closeMatch http://identifiers.org/snomedct/205505000
property_value: closeMatch http://identifiers.org/snomedct/240174009
property_value: closeMatch http://identifiers.org/snomedct/34643004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931842
property_value: exactMatch DOID:4997
property_value: exactMatch http://identifiers.org/mesh/D003966
property_value: exactMatch http://identifiers.org/omim/131300
property_value: exactMatch http://identifiers.org/snomedct/318761000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011989
property_value: exactMatch NCIT:C84610
property_value: exactMatch Orphanet:1328

[Term]
id: MONDO:0007543
name: enolase, sperm specific
synonym: "ENO4" RELATED [MONDO:Lexical, OMIM:131375]
synonym: "enolase, sperm specific" EXACT [MONDO:Lexical, OMIM:131375]
synonym: "enolase, sperm specific; ENO4" RELATED [OMIM:131375]
xref: OMIM:131375 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851589
property_value: exactMatch http://identifiers.org/omim/131375

[Term]
id: MONDO:0007544
name: eosinophilia, familial
def: "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." [https://orcid.org/0000-0001-5208-3432, PMID:14176021]
subset: gard_rare {source="GARD:0010521"}
synonym: "Eos" RELATED [OMIM:131400]
synonym: "eosinophilia, familial" EXACT [OMIM:131400]
synonym: "familial eosinophilia" RELATED [GARD:0010521]
xref: GARD:0010521 {source="MONDO:equivalentTo"}
xref: MESH:C562722 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:131400 {source="MONDO:equivalentTo"}
xref: SCTID:79336007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272192
property_value: exactMatch http://identifiers.org/mesh/C562722
property_value: exactMatch http://identifiers.org/omim/131400
property_value: exactMatch http://identifiers.org/snomedct/79336007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia xsd:anyURI {source="GARD:0010521"}

[Term]
id: MONDO:0007545
name: Eosinophilopenia
synonym: "eosinophil aplasia" RELATED [OMIM:131430]
synonym: "Eosinophilopenia" EXACT [OMIM:131430]
xref: OMIM:131430 {source="MONDO:equivalentTo"}
xref: UMLS:C1851586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131430"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/131430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851586

[Term]
id: MONDO:0007546
name: myeloproliferative disorder, chronic, with eosinophilia
synonym: "eosinophils, malignant proliferation of" RELATED [OMIM:131440]
synonym: "MPE" RELATED [OMIM:131440]
synonym: "myeloproliferative disorder, chronic, with eosinophilia" EXACT [OMIM:131440]
xref: MESH:C565054 {source="MONDO:equivalentTo"}
xref: OMIM:131440 {source="MONDO:equivalentTo"}
xref: UMLS:C1851585 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131440"}
is_a: MONDO:0019452 {source="ORDO:86830/btnt"} ! myeloproliferative neoplasm, unclassifiable
property_value: exactMatch http://identifiers.org/mesh/C565054
property_value: exactMatch http://identifiers.org/omim/131440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851585

[Term]
id: MONDO:0007547
name: epidermoid cysts
def: "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." [NCIT:C3134]
synonym: "Epidermal cyst" EXACT [NCIT:C3134]
synonym: "epidermal inclusion cyst" EXACT [NCIT:C3134]
synonym: "epidermoid cyst" EXACT [NCIT:C3134]
synonym: "epidermoid cysts" EXACT [OMIM:131600]
synonym: "epithelial cyst" EXACT [NCIT:C3134]
synonym: "Follicular infundibular cyst" EXACT [NCIT:C3134]
synonym: "horn cyst" EXACT [NCIT:C3134]
synonym: "inclusion cyst" EXACT [NCIT:C3134]
synonym: "infundibular cyst" EXACT [NCIT:C3134]
synonym: "keratin cyst" EXACT [NCIT:C3134]
synonym: "keratinizing cyst" EXACT [NCIT:C3134]
synonym: "keratinous cyst" EXACT [NCIT:C3134]
synonym: "squamous cyst" EXACT [NCIT:C3134]
xref: EFO:1000243 {source="MONDO:equivalentTo"}
xref: NCIT:C3134 {source="MONDO:equivalentTo"}
xref: OMIM:131600 {source="MONDO:equivalentTo"}
xref: SCTID:419893006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014511
property_value: exactMatch http://identifiers.org/omim/131600
property_value: exactMatch http://identifiers.org/snomedct/419893006
property_value: exactMatch NCIT:C3134

[Term]
id: MONDO:0007548
name: transient bullous dermolysis of the newborn
def: "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." [Orphanet:79411]
subset: gard_rare {source="GARD:0010010"}
subset: ordo_disease {source="Orphanet:79411"}
synonym: "DEB, bullous dermolysis of the newborn" EXACT [Orphanet:79411]
synonym: "DEB-BDN" EXACT [Orphanet:79411]
synonym: "dystrophic epidermolysis bullosa, neonatal" RELATED [OMIM:131705]
synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" RELATED [GARD:0010010]
synonym: "epidermolysis bullosa dystrophica, neonatal form" RELATED [OMIM:131705]
synonym: "MONDON" RELATED [MONDO:Lexical, OMIM:131705]
synonym: "TBDN" RELATED [GARD:0010010]
synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMIM:131705]
synonym: "transient bullous dermolysis of the newborn; MONDON" RELATED [OMIM:131705]
synonym: "transient bullous dermolysis of the newborn; TBDN" RELATED [OMIM:131705]
xref: GARD:0010010 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.2 {source="ORDO:79411/attributed", source="ORDO:79411/ntbt", source="Orphanet:79411"}
xref: MESH:C536979 {source="MONDO:equivalentTo", source="ORDO:79411/e", source="MONDO:ontobio", source="Orphanet:79411"}
xref: OMIM:131705 {source="MONDO:equivalentTo", source="ORDO:79411/e", source="Orphanet:79411"}
xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"}
xref: UMLS:C1851573 {source="NCBI:mim2gene_medline", source="OMIM:131705", source="MONDO:equivalentTo", source="ORDO:79411/e", source="Orphanet:79411"}
is_a: MONDO:0017608 {source="Orphanet:79411"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://identifiers.org/mesh/C536979
property_value: exactMatch http://identifiers.org/omim/131705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851573
property_value: exactMatch Orphanet:79411
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn xsd:anyURI {source="GARD:0010010"}

[Term]
id: MONDO:0007549
name: generalized dominant dystrophic epidermolysis bullosa
def: "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." [Orphanet:231568]
subset: ordo_disease {source="Orphanet:231568"}
synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM:131750]
synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224]
synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568]
synonym: "DDEB" RELATED [MONDO:Lexical, OMIM:131750]
synonym: "DDEB, generalized" EXACT [Orphanet:231568]
synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568]
synonym: "DDEB-gen" EXACT [Orphanet:231568]
synonym: "dominant dystrophic epidermolysis bullosa" RELATED [GARD:0002139]
synonym: "dominant dystrophic epidermolysis bullosa, generalized" RELATED [GARD:0002139]
synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica with subcorneal Cleavage" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, autosomal dominant" RELATED [MONDO:Lexical, OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, autosomal dominant; DDEB" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" RELATED [GARD:0002139]
synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139]
xref: DOID:0080224 {source="MONDO:equivalentTo"}
xref: GARD:0002139 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.2 {source="ORDO:231568/attributed", source="ORDO:231568/ntbt", source="Orphanet:231568"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="ORDO:231568/e"}
xref: Orphanet:231568 {source="MONDO:equivalentTo", source="OMIM:131750"}
xref: SCTID:75875004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.61"}
is_a: MONDO:0006543 {source="DC-OMIM:131750", source="DOID:0080224", source="MONDOLEX:0007549", source="linkedlifedata", source="linkedlifedata/inferred"} ! epidermolysis bullosa dystrophica
is_a: MONDO:0017608 {source="Orphanet:231568"} ! dystrophic epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432322
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675683
property_value: exactMatch DOID:0080224
property_value: exactMatch http://identifiers.org/omim/131750
property_value: exactMatch http://identifiers.org/snomedct/75875004
property_value: exactMatch Orphanet:231568

[Term]
id: MONDO:0007550
name: epidermolysis bullosa simplex Dowling-Meara type
def: "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." [Orphanet:79396]
subset: gard_rare {source="GARD:0002141"}
subset: ordo_disease {source="Orphanet:79396"}
synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141]
synonym: "EBS, generalized severe" EXACT [Orphanet:79396]
synonym: "EBS-DM" RELATED [GARD:0002141]
synonym: "EBS-gen sev" EXACT [DOID:0060735]
synonym: "EBSDM" EXACT [DOID:0060735, MONDO:Lexical, OMIM:131760]
synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [DOID:0060735]
synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [OMIM:131760]
synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical, OMIM:131760]
synonym: "epidermolysis bullosa simplex, Dowling-Meara type; EBSDM" RELATED [OMIM:131760]
synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [OMIM:131760]
synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orphanet:79396]
synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735]
xref: DOID:0060735 {source="MONDO:equivalentTo"}
xref: GARD:0002141 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:79396/attributed", source="ORDO:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:131760 {source="MONDO:equivalentTo", source="ORDO:79396/e", source="DOID:0060735", source="Orphanet:79396"}
xref: Orphanet:79396 {source="MONDO:equivalentTo", source="OMIM:131760", source="DOID:0060735"}
xref: SCTID:254179000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0015551 {source="Orphanet:79396"} ! basal epidermolysis bullosa simplex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079295
property_value: exactMatch DOID:0060735
property_value: exactMatch http://identifiers.org/omim/131760
property_value: exactMatch http://identifiers.org/snomedct/254179000
property_value: exactMatch Orphanet:79396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type xsd:anyURI {source="GARD:0002141"}

[Term]
id: MONDO:0007551
name: localized epidermolysis bullosa simplex
def: "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." [Orphanet:79400]
subset: gard_rare {source="GARD:0002146"}
subset: ordo_disease {source="Orphanet:79400"}
synonym: "EBS, acral form" RELATED [OMIM:131800]
synonym: "EBS-loc" EXACT [Orphanet:79400]
synonym: "epidermolysis bullosa of hands and feet" RELATED [OMIM:131800]
synonym: "epidermolysis bullosa simplex of palms and soles" EXACT [Orphanet:79400]
synonym: "epidermolysis bullosa simplex, localized" RELATED [OMIM:131800]
synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [OMIM:131800, Orphanet:79400]
synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146]
synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146]
xref: GARD:0002146 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:79400/attributed", source="ORDO:79400/ntbt", source="Orphanet:79400"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:131800 {source="MONDO:equivalentTo", source="ORDO:79400/e", source="Orphanet:79400"}
xref: Orphanet:79400 {source="OMIM:131800", source="MONDO:equivalentTo"}
xref: SCTID:294705005 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
is_a: MONDO:0015551 {source="Orphanet:79400"} ! basal epidermolysis bullosa simplex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0080333
property_value: exactMatch http://identifiers.org/omim/131800
property_value: exactMatch http://identifiers.org/snomedct/294705005
property_value: exactMatch Orphanet:79400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized xsd:anyURI {source="GARD:0002146"}

[Term]
id: MONDO:0007552
name: pretibial dystrophic epidermolysis bullosa
def: "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." [Orphanet:79410]
subset: ordo_disease {source="Orphanet:79410"}
synonym: "Deb, pretibial" RELATED [OMIM:131850]
synonym: "DEB-Pt" EXACT [Orphanet:79410]
synonym: "dystrophic epidermolysis bullosa, pretibial" RELATED [OMIM:131850]
synonym: "epidermolysis bullosa dystrophica, pretibial" RELATED [OMIM:131850]
synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850]
synonym: "pretibial DEB" EXACT [Orphanet:79410]
synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155]
xref: GARD:0002155 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.2 {source="ORDO:79410/attributed", source="ORDO:79410/ntbt", source="Orphanet:79410"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535494 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:131850 {source="MONDO:equivalentTo", source="ORDO:79410/e", source="Orphanet:79410"}
xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"}
xref: SCTID:67653003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.61"}
is_a: MONDO:0006543 {source="DC-OMIM:131850", source="MESH:C535494", source="MONDOLEX:0007552", source="linkedlifedata", source="linkedlifedata/inferred"} ! epidermolysis bullosa dystrophica
is_a: MONDO:0017608 {source="Orphanet:79410"} ! dystrophic epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432321
property_value: exactMatch http://identifiers.org/mesh/C535494
property_value: exactMatch http://identifiers.org/omim/131850
property_value: exactMatch http://identifiers.org/snomedct/67653003
property_value: exactMatch Orphanet:79410

[Term]
id: MONDO:0007553
name: epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase
synonym: "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" EXACT [OMIM:131880]
xref: MESH:C565049 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:131880 {source="MONDO:equivalentTo"}
xref: UMLS:C1851570 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131880"}
is_a: MONDO:0003847 {source="MESH:C565049/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565049
property_value: exactMatch http://identifiers.org/omim/131880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851570

[Term]
id: MONDO:0007554
name: generalized epidermolysis bullosa simplex, non-Dowling-Meara type
def: "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." [Orphanet:79399]
subset: ordo_disease {source="Orphanet:79399"}
synonym: "EBS, generalized" RELATED [OMIM:131900]
synonym: "EBS, generalized intermediate" EXACT [Orphanet:79399]
synonym: "EBS-K" RELATED [GARD:0002147]
synonym: "epidermolysis bullosa simplex, generalized" RELATED [OMIM:131900]
synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [Orphanet:79399]
synonym: "epidermolysis bullosa simplex, generalized non-Dowling-Meara" RELATED [GARD:0002147]
synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [Orphanet:79399]
synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [OMIM:131900, Orphanet:79399]
synonym: "epidermolysis bullosa simplex, Köbner type" EXACT [Orphanet:79399]
synonym: "generalized EBS" RELATED [GARD:0002147]
synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399]
xref: GARD:0002147 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:79399/attributed", source="ORDO:79399/ntbt", source="Orphanet:79399"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:131900 {source="MONDO:equivalentTo", source="ORDO:79399/e", source="Orphanet:79399"}
xref: Orphanet:79399 {source="OMIM:131900", source="MONDO:equivalentTo"}
xref: SCTID:90496008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0015551 {source="Orphanet:79399"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C535961
property_value: exactMatch http://identifiers.org/omim/131900
property_value: exactMatch http://identifiers.org/snomedct/90496008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079299
property_value: exactMatch Orphanet:79399

[Term]
id: MONDO:0007555
name: epidermolysis bullosa simplex Ogna type
def: "Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." [Orphanet:79401]
subset: gard_rare {source="GARD:0002148"}
subset: ordo_disease {source="Orphanet:79401"}
synonym: "EBS-O" EXACT [DOID:0060736, Orphanet:79401]
synonym: "EBS-Og" EXACT [DOID:0060736]
synonym: "EBSOG" EXACT [DOID:0060736, MONDO:Lexical, OMIM:131950]
synonym: "epidermolysis bullosa simplex, Ogna type" RELATED [MONDO:Lexical, OMIM:131950]
synonym: "epidermolysis bullosa simplex, Ogna type; EBSOG" RELATED [OMIM:131950]
xref: DOID:0060736 {source="MONDO:equivalentTo"}
xref: GARD:0002148 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="DOID:0060736", source="ORDO:79401/attributed", source="ORDO:79401/ntbt", source="Orphanet:79401"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535962 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79401/e", source="Orphanet:79401"}
xref: OMIM:131950 {source="MONDO:equivalentTo", source="DOID:0060736", source="ORDO:79401/e", source="Orphanet:79401"}
xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source="OMIM:131950"}
xref: SCTID:398071000 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0015551 {source="Orphanet:79401"} ! basal epidermolysis bullosa simplex
property_value: exactMatch DOID:0060736
property_value: exactMatch http://identifiers.org/mesh/C535962
property_value: exactMatch http://identifiers.org/omim/131950
property_value: exactMatch http://identifiers.org/snomedct/398071000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432317
property_value: exactMatch Orphanet:79401
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type xsd:anyURI {source="GARD:0002148"}

[Term]
id: MONDO:0007556
name: epidermolysis bullosa simplex with mottled pigmentation
def: "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." [Orphanet:79397]
subset: gard_rare {source="GARD:0009737"}
subset: ordo_disease {source="Orphanet:79397"}
synonym: "EBS with mottled pigmentation" RELATED [GARD:0009737]
synonym: "EBS-MP" EXACT [Orphanet:79397]
synonym: "EBSMP" RELATED [MONDO:Lexical, OMIM:131960]
synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [MONDO:Lexical, OMIM:131960]
synonym: "epidermolysis bullosa simplex with mottled pigmentation; EBSMP" RELATED [OMIM:131960]
synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [OMIM:131960]
synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737]
xref: GARD:0009737 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:79397/attributed", source="ORDO:79397/ntbt", source="Orphanet:79397"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535959 {source="MONDO:equivalentTo", source="ORDO:79397/e", source="Orphanet:79397", source="MONDO:ontobio"}
xref: OMIM:131960 {source="MONDO:equivalentTo", source="ORDO:79397/e", source="Orphanet:79397"}
xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"}
xref: SCTID:254180002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015551 {source="Orphanet:79397"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C535959
property_value: exactMatch http://identifiers.org/omim/131960
property_value: exactMatch http://identifiers.org/snomedct/254180002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432316
property_value: exactMatch Orphanet:79397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation xsd:anyURI {source="GARD:0009737"}

[Term]
id: MONDO:0007557
name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails
synonym: "epidermolysis bullosa dystrophica, Bart type" RELATED [OMIM:132000]
synonym: "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" EXACT [OMIM:132000]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562638 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:132000 {source="MONDO:equivalentTo"}
xref: SCTID:2689001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
is_a: MONDO:0003847 {source="MESH:C562638/inferred", source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268371
property_value: exactMatch http://identifiers.org/mesh/C562638
property_value: exactMatch http://identifiers.org/omim/132000
property_value: exactMatch http://identifiers.org/snomedct/2689001

[Term]
id: MONDO:0007558
name: benign occipital epilepsy
def: "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." [Orphanet:25968]
subset: gard_rare {source="GARD:0002170"}
subset: ordo_disease {source="Orphanet:25968"}
synonym: "BOE" RELATED [MONDO:Lexical, OMIM:132090]
synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090]
synonym: "epilepsy, benign occipital; BOE" RELATED [OMIM:132090]
xref: GARD:0002170 {source="MONDO:equivalentTo"}
xref: ICD10:G40.0 {source="Orphanet:25968", source="ORDO:25968/attributed", source="ORDO:25968/ntbt"}
xref: OMIM:132090 {source="ORDO:25968/e", source="Orphanet:25968", source="MONDO:equivalentTo"}
xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"}
xref: UMLS:C1851549 {source="ORDO:25968/e", source="NCBI:mim2gene_medline", source="Orphanet:25968", source="MONDO:equivalentTo", source="OMIM:132090"}
is_a: MONDO:0020072 {source="Orphanet:25968"} ! childhood-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/omim/132090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851549
property_value: exactMatch Orphanet:25968
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital xsd:anyURI {source="GARD:0002170"}

[Term]
id: MONDO:0007559
name: PPR1
synonym: "epilepsy, photogenic" RELATED [OMIM:132100]
synonym: "Photoconvulsive reaction" RELATED [OMIM:132100]
synonym: "photoparoxysmal response 1" RELATED [MONDO:Lexical, OMIM:132100]
synonym: "photoparoxysmal response 1; PPR1" RELATED [OMIM:132100]
synonym: "photosensitivity" RELATED [OMIM:132100]
synonym: "Ppr" RELATED [OMIM:132100]
synonym: "PPR1" EXACT [MONDO:Lexical, OMIM:132100]
xref: OMIM:132100 {source="MONDO:equivalentTo"}
xref: UMLS:C1868677 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:132100"}
is_a: MONDO:0015643 {source="DC-OMIM:132100", source="OMIM:132100"} ! photosensitive epilepsy
property_value: exactMatch http://identifiers.org/omim/132100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868677

[Term]
id: MONDO:0007560
name: reading seizures
subset: ordo_disease {source="Orphanet:166433"}
synonym: "epilepsy, reading" RELATED [OMIM:132300]
xref: ICD10:G40.8 {source="Orphanet:166433", source="ORDO:166433/ntbt"}
xref: OMIM:132300 {source="Orphanet:166433", source="ORDO:166433/e", source="MONDO:equivalentTo"}
xref: Orphanet:166433 {source="MONDO:equivalentTo", source="OMIM:132300"}
xref: UMLS:C0278193 {source="Orphanet:166433", source="NCBI:mim2gene_medline", source="ORDO:166433/e", source="MONDO:equivalentTo", source="OMIM:132300"}
is_a: MONDO:0017768 {source="Orphanet:166433"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/omim/132300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278193
property_value: exactMatch Orphanet:166433

[Term]
id: MONDO:0007561
name: multiple epiphyseal dysplasia type 1
def: "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia (see this term) that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia (see this term) with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." [Orphanet:93308]
subset: gard_rare
subset: ordo_disease {source="Orphanet:93308"}
synonym: "COMP multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM1" EXACT [GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308]
synonym: "epiphyseal dysplasia multiple 1" RELATED [GARD:0002180]
synonym: "epiphyseal dysplasia, Fairbank type" RELATED [OMIM:132400]
synonym: "epiphyseal dysplasia, multiple, 1" RELATED [MONDO:Lexical, OMIM:132400]
synonym: "epiphyseal dysplasia, multiple, 1; EDM1" RELATED [OMIM:132400]
synonym: "epiphyseal dysplasia, multiple, type 1" EXACT [MONDORULE:1, OMIM:132400]
synonym: "epiphyseal dysplasia, ribbing type" RELATED [OMIM:132400]
synonym: "MED1" EXACT [Orphanet:93308]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COMP" EXACT []
synonym: "multiple epiphyseal dysplasia 1" RELATED [GARD:0002180]
synonym: "multiple epiphyseal dysplasia COMP-related" RELATED [GARD:0002180]
synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400]
synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308]
xref: DOID:0070303 {source="MONDO:equivalentTo"}
xref: GARD:0002180 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="ORDO:93308/attributed", source="ORDO:93308/ntbt", source="MONDO:relatedTo", source="Orphanet:93308"}
xref: OMIM:132400 {source="MONDO:equivalentTo", source="GARD:0002180", source="ORDO:93308/e", source="Orphanet:93308"}
xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"}
xref: SCTID:715673002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1838280 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0002180", source="OMIM:132400", source="ORDO:93308/e", source="Orphanet:93308"}
xref: UMLS:C4275061 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016648 {source="DC-OMIM:132400", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308", source="linkedlifedata"} ! multiple epiphyseal dysplasia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851538
property_value: exactMatch DOID:0070303
property_value: exactMatch http://identifiers.org/mesh/C535501
property_value: exactMatch http://identifiers.org/omim/132400
property_value: exactMatch http://identifiers.org/snomedct/715673002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275061
property_value: exactMatch Orphanet:93308
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 xsd:anyURI {source="GARD:0002180"}

[Term]
id: MONDO:0007562
name: multiple epiphyseal dysplasia, Beighton type
def: "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." [Orphanet:166011]
subset: ordo_disease {source="Orphanet:166011"}
synonym: "EDMMD" RELATED [MESH:C565046, MONDO:Lexical, OMIM:132450]
synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical, OMIM:132450]
synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness; EDMMD" RELATED [OMIM:132450]
synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011]
xref: ICD10:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="ORDO:166011/attributed", source="ORDO:166011/ntbt"}
xref: MESH:C565046 {source="MONDO:equivalentTo"}
xref: OMIM:132450 {source="Orphanet:166011", source="ORDO:166011/e", source="MONDO:equivalentTo", source="MEDIC:C565046"}
xref: Orphanet:166011 {source="MONDO:equivalentTo", source="OMIM:132450"}
xref: SCTID:719689005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0016648 {source="Orphanet:166011", source="linkedlifedata"} ! multiple epiphyseal dysplasia (disease)
is_a: MONDO:0019686 {source="Orphanet:166011"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851536
property_value: exactMatch http://identifiers.org/mesh/C565046
property_value: exactMatch http://identifiers.org/omim/132450
property_value: exactMatch http://identifiers.org/snomedct/719689005
property_value: exactMatch Orphanet:166011

[Term]
id: MONDO:0007563
name: obsolete epistaxis, hereditary
is_obsolete: true

[Term]
id: MONDO:0007564
name: pilomatrixoma
def: "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms)." [Orphanet:91414]
subset: gard_rare {source="GARD:0009452"}
subset: ordo_malformation_syndrome {source="Orphanet:91414"}
synonym: "benign hair follicle neoplasm" EXACT [NCIT:C7368]
synonym: "benign pilomatricoma" EXACT [DOID:5374]
synonym: "benign pilomatrixoma" EXACT [NCIT:C7368]
synonym: "calcifying epithelioma of Malherbe" RELATED [GARD:0009452]
synonym: "calcifying Epitherlioma of Malherbe" EXACT [NCIT:C7368]
synonym: "epithelioma calcificans of Malherbe" EXACT [OMIM:132600, Orphanet:91414]
synonym: "pilomatricoma" EXACT [DOID:5374, NCIT:C7368, OMIM:132600, Orphanet:91414]
synonym: "pilomatrixoma" EXACT [OMIM:132600]
synonym: "pilomatrixoma, benign" EXACT [NCIT:C7368]
synonym: "PTR" RELATED [GARD:0009452]
xref: DOID:5374 {source="MONDO:equivalentTo"}
xref: EFO:0009082 {source="MONDO:equivalentTo"}
xref: GARD:0009452 {source="MONDO:equivalentTo"}
xref: ICD10:C44.3 {source="ORDO:91414/btnt", source="Orphanet:91414"}
xref: ICD10:C44.6 {source="ORDO:91414/btnt", source="Orphanet:91414"}
xref: ICDO:8110/0 {source="NCIT:C7368"}
xref: MedDRA:10035040 {source="ORDO:91414/e", source="Orphanet:91414"}
xref: MESH:D018296 {source="MONDO:equivalentTo", source="ORDO:91414/e", source="Orphanet:91414", source="MONDO:ontobio", source="DOID:5374"}
xref: NCIT:C7368 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5374"}
xref: OMIM:132600 {source="MONDO:equivalentTo", source="ORDO:91414/e", source="Orphanet:91414", source="DOID:5374"}
xref: Orphanet:91414 {source="MONDO:equivalentTo", source="OMIM:132600"}
xref: SCTID:274901004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.36", source="DOID:5374"}
xref: UMLS:C0206711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C7368", source="ORDO:91414/e", source="Orphanet:91414", source="OMIM:132600", source="DOID:5374"}
xref: UMLS:C0853031 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003413 {source="DOID:5374", source="NCIT:C7368/inferred"} ! hair follicle neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:91414"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://identifiers.org/snomedct/44155009
property_value: exactMatch DOID:5374
property_value: exactMatch http://identifiers.org/meddra/10035040
property_value: exactMatch http://identifiers.org/mesh/D018296
property_value: exactMatch http://identifiers.org/omim/132600
property_value: exactMatch http://identifiers.org/snomedct/274901004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853031
property_value: exactMatch NCIT:C7368
property_value: exactMatch Orphanet:91414
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma xsd:anyURI {source="GARD:0009452"}

[Term]
id: MONDO:0007565
name: familial cylindromatosis
subset: ordo_clinical_subtype {source="Orphanet:211"}
synonym: "'turban tumor' syndrome" RELATED [OMIM:132700]
synonym: "Ancell-Spiegler Cylindromas" RELATED [OMIM:132700]
synonym: "Ancell-Spiegler syndrome" EXACT [NCIT:C43352]
synonym: "CYLD" RELATED [GARD:0009707]
synonym: "Cylindromas, dermal eccrine" RELATED [OMIM:132700]
synonym: "cylindromatosis, familial" RELATED [OMIM:132700]
synonym: "turban tumor" EXACT [NCIT:C43352]
synonym: "turban tumor syndrome" EXACT [Orphanet:211]
synonym: "turban tumors" RELATED [GARD:0009707]
xref: GARD:0009707 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536611 {source="MONDO:equivalentTo", source="ORDO:211/e", source="Orphanet:211"}
xref: NCIT:C43352 {source="MONDO:equivalentTo"}
xref: OMIM:132700 {source="MONDO:equivalentTo", source="ORDO:211/e", source="Orphanet:211"}
xref: Orphanet:211 {source="MONDO:equivalentTo", source="OMIM:132700"}
is_a: MONDO:0011512 {source="Orphanet:211"} ! Brooke-Spiegler syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1305968
property_value: exactMatch http://identifiers.org/mesh/C536611
property_value: exactMatch http://identifiers.org/omim/132700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851526
property_value: exactMatch NCIT:C43352
property_value: exactMatch Orphanet:211

[Term]
id: MONDO:0007566
name: multiple self-healing squamous epithelioma
def: "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." [Orphanet:65748]
subset: gard_rare {source="GARD:0003090"}
subset: ordo_disease {source="Orphanet:65748"}
synonym: "ESS1" RELATED [OMIM:132800]
synonym: "ESS1 (formerly)" RELATED [GARD:0003090]
synonym: "ESS1, formerly" RELATED [OMIM:132800]
synonym: "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" EXACT [Orphanet:65748]
synonym: "Ferguson-Smith disease" EXACT [MONDO:cjm, Orphanet:65748]
synonym: "Ferguson-Smith tumor" EXACT [MONDO:cjm, NCIT:C4461]
synonym: "Ferguson-Smith type epithelioma" RELATED [OMIM:132800]
synonym: "Ferguson-Smith-type epithelioma" RELATED [OMIM:132800]
synonym: "MSSE" EXACT [MONDO:Lexical, OMIM:132800, Orphanet:65748]
synonym: "multiple keratoacanthoma, Ferguson-Smith type" EXACT [Orphanet:65748]
synonym: "multiple self healing epithelioma of Ferguson-Smith" EXACT [NCIT:C4461]
synonym: "multiple self healing squamous epithelioma" RELATED [GARD:0003090]
synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT [DOID:5585]
synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical, OMIM:132800]
synonym: "multiple self-healing squamous epithelioma, susceptibility to; MSSE" RELATED [OMIM:132800]
synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748]
xref: DOID:5585 {source="MONDO:equivalentTo"}
xref: GARD:0003090 {source="MONDO:equivalentTo"}
xref: ICD10:C44.3 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"}
xref: ICD10:C44.6 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"}
xref: ICD10:C44.7 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"}
xref: MESH:C536150 {source="MONDO:equivalentTo"}
xref: NCIT:C4461 {source="DOID:5585", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.91"}
xref: OMIM:132800 {source="ORDO:65748/e", source="MONDO:equivalentTo", source="Orphanet:65748"}
xref: Orphanet:65748 {source="MONDO:equivalentTo", source="OMIM:132800"}
xref: SCTID:254659009 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="DOID:5585", source="MONDO:equivalentTo"}
xref: UMLS:C0345982 {source="DOID:5585", source="NCIT:C4461", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="NCIT:C4461", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome
relationship: disease_has_feature MONDO:0002527 {source="NCIT:C4461"} ! keratoacanthoma
relationship: disease_has_feature MONDO:0020173 {source="Orphanet:65748"} ! benign tumor of palpebral epidermis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546476
property_value: exactMatch DOID:5585
property_value: exactMatch http://identifiers.org/mesh/C536150
property_value: exactMatch http://identifiers.org/omim/132800
property_value: exactMatch http://identifiers.org/snomedct/254659009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345982
property_value: exactMatch NCIT:C4461
property_value: exactMatch Orphanet:65748
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma xsd:anyURI {source="GARD:0003090"}

[Term]
id: MONDO:0007567
name: Epstein-Barr virus insertion site 1
synonym: "EBVS1" RELATED [MONDO:Lexical, OMIM:132850]
synonym: "Epstein-Barr virus insertion site 1" EXACT [MONDO:Lexical, OMIM:132850]
synonym: "Epstein-Barr VIRUS insertion site 1; EBVS1" RELATED [OMIM:132850]
synonym: "Epstein-Barr Virus insertion site type 1" EXACT [MONDORULE:1, OMIM:132850]
synonym: "Epstein-Barr Virus integration site" RELATED [OMIM:132850]
xref: OMIM:132850 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414241
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851505
property_value: exactMatch http://identifiers.org/omim/132850

[Term]
id: MONDO:0007568
name: aortic aneurysm, familial thoracic 4
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009876"}
synonym: "AAT4" RELATED [MONDO:Lexical, OMIM:132900]
synonym: "aortic aneurysm, familial thoracic 4" EXACT [MONDO:Lexical, OMIM:132900]
synonym: "aortic aneurysm, familial thoracic 4; AAT4" RELATED [OMIM:132900]
synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1, OMIM:132900]
synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATED [OMIM:132900]
synonym: "FAA4" RELATED [OMIM:132900]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11" EXACT [MONDO:design_pattern]
synonym: "MYH11 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0009876 {source="MONDO:equivalentTo"}
xref: MESH:C537784 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:132900 {source="MONDO:equivalentTo"}
xref: UMLS:C1851504 {source="OMIM:132900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:132900", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/mesh/C537784
property_value: exactMatch http://identifiers.org/omim/132900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851504
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4 xsd:anyURI {source="GARD:0009876"}

[Term]
id: MONDO:0007569
name: erythema nodosum, familial
subset: gard_rare {source="GARD:0009259"}
synonym: "erythema nodosum, familial" EXACT [OMIM:132990]
synonym: "familial erythema nodosum" RELATED [GARD:0009259]
xref: GARD:0009259 {source="MONDO:equivalentTo"}
xref: MESH:C535510 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:132990 {source="MONDO:equivalentTo"}
xref: UMLS:C1851503 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:132990"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535510
property_value: exactMatch http://identifiers.org/omim/132990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851503
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum xsd:anyURI {source="GARD:0009259"}

[Term]
id: MONDO:0007570
name: erythema palmare hereditarium
def: "Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." [Orphanet:231031]
subset: ordo_disease {source="Orphanet:231031"}
synonym: "erythema palmare hereditarium" EXACT [OMIM:133000]
synonym: "lane disease" EXACT [Orphanet:231031]
synonym: "Red palms disease" EXACT [Orphanet:231031]
xref: ICD10:L59.8 {source="Orphanet:231031", source="ORDO:231031/attributed", source="ORDO:231031/ntbt"}
xref: MESH:C565041 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="ORDO:231031/e"}
xref: Orphanet:231031 {source="MONDO:equivalentTo", source="OMIM:133000"}
xref: SCTID:763767006 {source="MONDO:equivalentTo"}
xref: UMLS:C1851502 {source="Orphanet:231031", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133000", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019299 {source="Orphanet:231031"} ! unclassified genetic skin disorder
property_value: exactMatch http://identifiers.org/mesh/C565041
property_value: exactMatch http://identifiers.org/omim/133000
property_value: exactMatch http://identifiers.org/snomedct/763767006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851502
property_value: exactMatch Orphanet:231031

[Term]
id: MONDO:0007571
name: primary erythermalgia
def: "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." [Orphanet:90026]
comment: Editor note: consider link to MONDO:0016028
subset: ordo_disease {source="Orphanet:90026"}
synonym: "erythermalgia, primary" RELATED [OMIM:133020]
synonym: "erythromelalgia, familial" RELATED [OMIM:133020]
synonym: "erythromelalgia, primary" RELATED [OMIM:133020]
synonym: "Mitchell disease (formerly)" RELATED DEPRECATED [GARD:0006377]
synonym: "neuropathy, small Fiber" RELATED [OMIM:133020]
synonym: "PERYTHM" EXACT [NCIT:C125383]
synonym: "primary erythromelalgia" EXACT [NCIT:C125383]
xref: GARD:0006377 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I73.8 {source="ORDO:90026/index", source="ORDO:90026/ntbt", source="Orphanet:90026"}
xref: NCIT:C125383 {source="MONDO:equivalentTo"}
xref: OMIM:133020 {source="MONDO:equivalentTo", source="ORDO:90026/e", source="Orphanet:90026"}
xref: Orphanet:90026 {source="OMIM:133020", source="MONDO:equivalentTo"}
xref: SCTID:709489006 {source="MONDO:kboom-pr-0.66/0.30/0.10", source="MONDO:equivalentTo"}
xref: UMLS:C0014805 {source="NCIT:C125383", source="NCBI:mim2gene_medline", source="OMIM:133020", source="MONDO:equivalentTo", source="Orphanet:90026"}
is_a: MONDO:0016028 {source="NCIT:C125383"} ! erythromelalgia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276706
property_value: exactMatch http://identifiers.org/omim/133020
property_value: exactMatch http://identifiers.org/snomedct/709489006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014805
property_value: exactMatch NCIT:C125383
property_value: exactMatch Orphanet:90026

[Term]
id: MONDO:0007572
name: primary familial polycythemia due to EPO receptor mutation
def: "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." [Orphanet:90042]
comment: Editor note: check relation to familial polycythemia
subset: gard_rare {source="GARD:0009843"}
subset: ordo_disease {source="Orphanet:90042"}
synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652]
synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042]
synonym: "congenital polycythemia due to erythropoietin receptor mutation" EXACT [Orphanet:90042]
synonym: "ECYT1" RELATED [MONDO:Lexical, OMIM:133100]
synonym: "EPOR familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis autosomal dominant benign" RELATED [GARD:0009843]
synonym: "erythrocytosis familial, 1" RELATED [GARD:0009843]
synonym: "erythrocytosis, autosomal dominant benign" RELATED [OMIM:133100]
synonym: "erythrocytosis, familial, 1" RELATED [MONDO:Lexical, OMIM:133100]
synonym: "erythrocytosis, familial, 1; ECYT1" RELATED [OMIM:133100]
synonym: "erythrocytosis, familial, type 1" EXACT [MONDORULE:1, OMIM:133100]
synonym: "familial erythrocytosis" EXACT [Orphanet:90042]
synonym: "familial erythrocytosis 1" RELATED [DOID:0060652]
synonym: "familial erythrocytosis type 1" EXACT [DOID:0060652, MONDORULE:1]
synonym: "familial erythrocytosis, 1" RELATED [GARD:0009843]
synonym: "familial polycythemia caused by mutation in EPOR" EXACT [MONDO:design_pattern]
synonym: "PFCP" EXACT [Orphanet:90042]
synonym: "polycythemia, primary familial and congenital" RELATED [OMIM:133100]
synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042]
synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orphanet:90042]
synonym: "primary familial polycythemia" RELATED [Orphanet:90042]
xref: DOID:0060652 {source="MONDO:equivalentTo"}
xref: GARD:0009843 {source="MONDO:equivalentTo"}
xref: ICD10:D75.0 {source="Orphanet:90042", source="DOID:0060652", source="ORDO:90042/attributed", source="ORDO:90042/ntbt"}
xref: ICD9:289.6 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:133100 {source="ORDO:90042/e", source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo"}
xref: Orphanet:90042 {source="DOID:0060652", source="MONDO:equivalentTo", source="OMIM:133100"}
xref: SCTID:17342003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0001115 {source="DC-OMIM:133100", source="DOID:0060652", source="MONDO:Redundant", source="MONDOLEX:0007572", source="OMIM:133100"} ! familial polycythemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152264
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851490
property_value: exactMatch DOID:0060652
property_value: exactMatch http://identifiers.org/omim/133100
property_value: exactMatch http://identifiers.org/snomedct/17342003
property_value: exactMatch Orphanet:90042
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 xsd:anyURI {source="GARD:0009843"}

[Term]
id: MONDO:0007573
name: acute erythroleukemia, familial
def: "An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/hereditary]
synonym: "Di Guglielmo disease, familial" RELATED [OMIM:133180]
synonym: "ERYTHROLEUKEMIA, familial" RELATED [OMIM:133180]
synonym: "hereditary acute erythroid leukemia" EXACT [MONDO:patterns/hereditary]
synonym: "leukemia, acute myelogenous, M6" RELATED [OMIM:133180]
xref: EFO:0000218 {source="MONDO:equivalentTo"}
xref: ICD9:207.0 {source="EFO:0000218"}
xref: MESH:C565039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133180 {source="MONDO:equivalentTo", source="EFO:0000218"}
is_a: MONDO:0017858 {source="MONDO:Redundant", source="ORDO:318/btnt"} ! acute erythroid leukemia
is_a: MONDO:0017893 ! inherited acute myeloid leukemia
intersection_of: MONDO:0017858 ! acute erythroid leukemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/mesh/C535673
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851482
property_value: exactMatch http://identifiers.org/mesh/C565039
property_value: exactMatch http://identifiers.org/omim/133180

[Term]
id: MONDO:0007574
name: spinocerebellar ataxia type 34
def: "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." [Orphanet:1955]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1955"}
synonym: "erythrokeratodermia - ataxia" RELATED [GARD:0000059]
synonym: "erythrokeratodermia with ataxia" EXACT [GARD:0000059, OMIM:133190, Orphanet:1955]
synonym: "Giroux Barbeau syndrome" RELATED [GARD:0000059]
synonym: "SCA34" EXACT [GARD:0000059, MONDO:Lexical, OMIM:133190, Orphanet:1955]
synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical, OMIM:133190]
synonym: "spinocerebellar ataxia 34; SCA34" RELATED [OMIM:133190]
synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955]
synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190]
xref: DOID:0050981 {source="MONDO:equivalentTo"}
xref: GARD:0000059 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:1955/attributed", source="ORDO:1955/ntbt", source="Orphanet:1955"}
xref: MESH:C535738 {source="MONDO:equivalentTo", source="ORDO:1955/e", source="MONDO:ontobio", source="Orphanet:1955"}
xref: OMIM:133190 {source="DOID:0050981", source="GARD:0000059", source="MONDO:equivalentTo", source="ORDO:1955/e", source="Orphanet:1955"}
xref: Orphanet:1955 {source="GARD:0000059", source="MONDO:equivalentTo", source="OMIM:133190"}
xref: SCTID:719255000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1851481 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1955/e", source="Orphanet:1955", source="OMIM:133190"}
is_a: MONDO:0019270 {source="Orphanet:1955", source="linkedlifedata"} ! erythrokeratoderma
is_a: MONDO:0019792 {source="Orphanet:1955"} ! autosomal dominant cerebellar ataxia type I
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0050981
property_value: exactMatch http://identifiers.org/mesh/C535514
property_value: exactMatch http://identifiers.org/mesh/C535738
property_value: exactMatch http://identifiers.org/omim/133190
property_value: exactMatch http://identifiers.org/snomedct/719255000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930921
property_value: exactMatch Orphanet:1955

[Term]
id: MONDO:0007575
name: obsolete erythrokeratodermia variabilis
is_obsolete: true
replaced_by: MONDO:0017851

[Term]
id: MONDO:0007576
name: esophageal cancer
def: "A primary or metastatic malignant neoplasm involving the esophagus." [NCIT:C7478]
synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [OMIM:133239]
synonym: "Ca lower third oesophagus" NARROW [DOID:5041]
synonym: "Ca middle third oesophagus" NARROW [DOID:5041]
synonym: "cancer of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "Escc, susceptibility to" RELATED [OMIM:133239]
synonym: "esophageal cancer" EXACT [OMIM:133239]
synonym: "esophageal squamous cell carcinoma, susceptibility to" RELATED [OMIM:133239]
synonym: "esophagus cancer" EXACT [DOID:5041, MONDO:patterns/location]
synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [OMIM:133239]
synonym: "malignant esophageal neoplasm" EXACT [NCIT:C7478]
synonym: "malignant esophageal tumor" EXACT [NCIT:C7478]
synonym: "malignant esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant esophagus tumor" EXACT [NCIT:C7478]
synonym: "malignant neoplasm of distal third of esophagus" NARROW [DOID:5041, MTHICD9_2006:150.5]
synonym: "malignant neoplasm of esophagus" EXACT [MONDO:patterns/cancer, NCIT:C7478]
synonym: "malignant neoplasm of lower third of oesophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of middle third of oesophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of proximal third of esophagus" NARROW [DOID:5041, MTHICD9_2006:150.3]
synonym: "malignant neoplasm of the esophagus" EXACT [NCIT:C7478]
synonym: "malignant neoplasm of upper third esophagus" NARROW [DOID:5041]
synonym: "malignant tumor of abdominal esophagus" NARROW [DOID:5041, NCIT:C4764]
synonym: "malignant tumor of distal third of esophagus" NARROW [DOID:5041, NCIT:C3535]
synonym: "malignant tumor of esophagus" EXACT [NCIT:C7478]
synonym: "malignant tumor of proximal third of esophagus" NARROW [DOID:5041, NCIT:C3533]
synonym: "malignant tumor of the esophagus" EXACT [NCIT:C7478]
synonym: "malignant tumor of the middle third of the esophagus" NARROW [DOID:5041, NCIT:C3534]
xref: COHD:4092060 {source="MONDO:equivalentTo"}
xref: DOID:5041 {source="MONDO:equivalentTo"}
xref: GARD:0006383 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:C15.3 {source="DOID:5041"}
xref: ICD10:C15.4 {source="DOID:5041"}
xref: ICD10:C15.5 {source="DOID:5041"}
xref: ICD9:150.2 {source="MONDO:relatedTo", source="DOID:5041"}
xref: ICD9:150.3 {source="DOID:5041"}
xref: ICD9:150.4 {source="DOID:5041"}
xref: ICD9:150.5 {source="DOID:5041"}
xref: ICD9:150.8 {source="MONDO:relatedTo", source="i2s", source="DOID:5041"}
xref: ICD9:150.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C7478 {source="MONDO:equivalentTo"}
xref: OMIM:133239 {source="MONDO:equivalentTo", source="DOID:5041"}
xref: SCTID:363402007 {source="MONDO:equivalentTo"}
xref: UMLS:C0546837 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C7478"}
is_a: MONDO:0002516 {source="DOID:5041", source="MONDO:Redundant", source="NCIT:C7478"} ! digestive system cancer
is_a: MONDO:0003274 ! thoracic cancer
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C7478", source="linkedlifedata"} ! neoplasm of esophagus
property_value: closeMatch http://identifiers.org/mesh/D004938
property_value: closeMatch http://identifiers.org/snomedct/154443000
property_value: closeMatch http://identifiers.org/snomedct/154444006
property_value: closeMatch http://identifiers.org/snomedct/187725002
property_value: closeMatch http://identifiers.org/snomedct/187726001
property_value: closeMatch http://identifiers.org/snomedct/187727005
property_value: closeMatch http://identifiers.org/snomedct/187729008
property_value: closeMatch http://identifiers.org/snomedct/269523008
property_value: closeMatch http://identifiers.org/snomedct/269524002
property_value: closeMatch http://identifiers.org/snomedct/93656003
property_value: closeMatch http://identifiers.org/snomedct/93877002
property_value: closeMatch http://identifiers.org/snomedct/93895004
property_value: closeMatch http://identifiers.org/snomedct/94119000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153413
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153414
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153415
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153416
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751126
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149253
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149254
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149255
property_value: closeMatch NCIT:C3533
property_value: closeMatch NCIT:C3534
property_value: closeMatch NCIT:C3535
property_value: exactMatch DOID:5041
property_value: exactMatch http://identifiers.org/omim/133239
property_value: exactMatch http://identifiers.org/snomedct/363402007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546837
property_value: exactMatch NCIT:C7478

[Term]
id: MONDO:0007577
name: esophageal ring, lower
synonym: "esophageal ring, lower" EXACT [OMIM:133240]
xref: ICD9:750.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562765 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133240 {source="MONDO:equivalentTo"}
xref: SCTID:235623002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C0341137 {source="NCBI:mim2gene_medline", source="OMIM:133240", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562765
property_value: exactMatch http://identifiers.org/omim/133240
property_value: exactMatch http://identifiers.org/snomedct/235623002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341137

[Term]
id: MONDO:0007578
name: esterase B
comment: Editor note: consider obsoleting
synonym: "ESB" RELATED [MONDO:Lexical, OMIM:133260]
synonym: "esterase B" EXACT [MONDO:Lexical, OMIM:133260]
synonym: "esterase B; ESB" RELATED [OMIM:133260]
synonym: "esterase type B" EXACT [MONDORULE:1, OMIM:133260]
xref: OMIM:133260 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0054741
property_value: exactMatch http://identifiers.org/omim/133260

[Term]
id: MONDO:0007579
name: esterase C
comment: Editor note: consider obsoleting
synonym: "ESC" RELATED [MONDO:Lexical, OMIM:133270]
synonym: "esterase C" EXACT [MONDO:Lexical, OMIM:133270]
synonym: "esterase C; ESC" RELATED [OMIM:133270]
synonym: "esterase type C" EXACT [MONDORULE:1, OMIM:133270]
xref: OMIM:133270 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851476
property_value: exactMatch http://identifiers.org/omim/133270

[Term]
id: MONDO:0007580
name: esterase ES-2, regulator for
comment: Editor note: consider obsoleting
synonym: "esterase ES-2, regulator for" EXACT [OMIM:133300]
xref: OMIM:133300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851475
property_value: exactMatch http://identifiers.org/omim/133300

[Term]
id: MONDO:0007581
name: exchondrosis of pinna, posterior
synonym: "Ear bump" RELATED [OMIM:133500]
synonym: "exchondrosis of pinna, posterior" EXACT [OMIM:133500]
xref: MESH:C565036 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133500 {source="MONDO:equivalentTo"}
xref: UMLS:C1851463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565036
property_value: exactMatch http://identifiers.org/omim/133500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851463

[Term]
id: MONDO:0007582
name: obsolete Cockayne syndrome B
is_obsolete: true
replaced_by: MONDO:0019570

[Term]
id: MONDO:0007583
name: exostoses of heel
comment: Editor note: consider obsoleting
synonym: "exostoses of heel" EXACT [OMIM:133600]
xref: MESH:C563167 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133600 {source="MONDO:equivalentTo"}
xref: UMLS:C0877431 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133600"}
is_a: MONDO:0003847 {source="MESH:C563167/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563167
property_value: exactMatch http://identifiers.org/omim/133600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877431

[Term]
id: MONDO:0007584
name: exostoses-anetodermia-brachydactyly type E syndrome
def: "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E (see this term). There have been no further descriptions in the literature since 1985." [Orphanet:1962]
subset: ordo_malformation_syndrome {source="Orphanet:1962"}
synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690]
xref: ICD10:Q87.5 {source="ORDO:1962/attributed", source="ORDO:1962/ntbt", source="Orphanet:1962"}
xref: MESH:C565034 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133690 {source="ORDO:1962/e", source="MONDO:equivalentTo", source="Orphanet:1962"}
xref: Orphanet:1962 {source="OMIM:133690", source="MONDO:equivalentTo"}
xref: UMLS:C1851428 {source="OMIM:133690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1962"}
is_a: MONDO:0019708 {source="Orphanet:1962"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C565034
property_value: exactMatch http://identifiers.org/omim/133690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851428
property_value: exactMatch Orphanet:1962

[Term]
id: MONDO:0007585
name: exostoses, multiple, type 1
def: "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0002204"}
synonym: "diaphyseal Aclasis" RELATED [OMIM:133700]
synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern]
synonym: "exostoses, multiple, type I" RELATED [OMIM:133700]
synonym: "EXT" RELATED [OMIM:133700]
synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700]
synonym: "multiple osteochondromas" RELATED [OMIM:133700]
synonym: "osteochondromatosis" RELATED [OMIM:133700]
xref: GARD:0002204 {source="MONDO:equivalentTo"}
xref: OMIM:133700 {source="MONDO:equivalentTo"}
is_a: MONDO:0005508 {source="DC-OMIM:133700", source="MONDO:Redundant", comment="OMIM:133700"} ! hereditary multiple osteochondromas
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015306
property_value: exactMatch http://identifiers.org/omim/133700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 xsd:anyURI {source="GARD:0002204"}

[Term]
id: MONDO:0007586
name: exostoses, multiple, type 2
def: "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." [NCIT:C18252]
subset: gard_rare {source="GARD:0002205"}
synonym: "exostoses (Multiple) 2 Gene" EXACT [NCIT:C18252]
synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern]
synonym: "exostoses, multiple, type II" RELATED [OMIM:133701]
synonym: "Ext2" RELATED [OMIM:133701]
synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EXT2 Gene" EXACT [NCIT:C18252]
xref: GARD:0002205 {source="MONDO:equivalentTo"}
xref: NCIT:C18252 {source="MONDO:equivalentTo"}
xref: OMIM:133701 {source="MONDO:equivalentTo"}
xref: UMLS:C1851413 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133701"}
is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant"} ! hereditary multiple osteochondromas
property_value: exactMatch http://identifiers.org/omim/133701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851413
property_value: exactMatch NCIT:C18252
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 xsd:anyURI {source="GARD:0002205"}

[Term]
id: MONDO:0007587
name: external auditory canal atresia-vertical talus-hypertelorism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3023"}
synonym: "external auditory canal, bilateral atresia of, with congenital vertical talus" RELATED [OMIM:133705]
synonym: "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" RELATED [GARD:0004638]
synonym: "Rasmussen Johnsen Thomsen syndrome" RELATED [GARD:0004638]
synonym: "Rasmussen syndrome" RELATED [OMIM:133705]
synonym: "Rasmussen-Johnsen-Thomsen syndrome" EXACT [Orphanet:3023]
xref: GARD:0004638 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3023", source="ORDO:3023/attributed", source="ORDO:3023/ntbt"}
xref: OMIM:133705 {source="Orphanet:3023", source="MONDO:equivalentTo", source="ORDO:3023/e"}
xref: Orphanet:3023 {source="OMIM:133705", source="MONDO:equivalentTo"}
xref: UMLS:C2930867 {source="Orphanet:3023", source="MONDO:equivalentTo", source="ORDO:3023/e"}
is_a: MONDO:0015502 {source="Orphanet:3023"} ! pinnae and external auditory canal anomaly
is_a: MONDO:0018455 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:3023"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3023"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876181
property_value: exactMatch http://identifiers.org/mesh/C535290
property_value: exactMatch http://identifiers.org/omim/133705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930867
property_value: exactMatch Orphanet:3023

[Term]
id: MONDO:0007588
name: extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
def: "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." [Orphanet:1964]
subset: ordo_malformation_syndrome {source="Orphanet:1964"}
synonym: "Char-Douglas-Dungan syndrome" EXACT [Orphanet:1964]
synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [OMIM:133750]
xref: MESH:C565032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:133750 {source="MONDO:equivalentTo", source="ORDO:1964/e", source="Orphanet:1964"}
xref: Orphanet:1964 {source="MONDO:equivalentTo", source="OMIM:133750"}
xref: UMLS:C1851412 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133750", source="Orphanet:1964", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015159 {source="Orphanet:1964"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:1964"} ! malformation syndrome with short stature
is_a: MONDO:0019289 {source="Orphanet:1964"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C565032
property_value: exactMatch http://identifiers.org/omim/133750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851412
property_value: exactMatch Orphanet:1964

[Term]
id: MONDO:0007589
name: exudative vitreoretinopathy 1
synonym: "Criswick-Schepens syndrome" RELATED [OMIM:133780]
synonym: "EVR1" RELATED [MONDO:Lexical, OMIM:133780]
synonym: "exudative vitreoretinopathy 1" EXACT [MONDO:Lexical, OMIM:133780]
synonym: "exudative vitreoretinopathy 1; EVR1" RELATED [OMIM:133780]
synonym: "exudative vitreoretinopathy type 1" EXACT [MONDORULE:1, OMIM:133780]
synonym: "exudative vitreoretinopathy, familial, autosomal dominant" RELATED [OMIM:133780]
synonym: "Fevr, autosomal dominant" RELATED [OMIM:133780]
synonym: "retinopathy of prematurity" RELATED [OMIM:133780]
xref: MESH:C536382 {source="MONDO:equivalentTo"}
xref: OMIM:133780 {source="MONDO:equivalentTo"}
xref: UMLS:C1851402 {source="MEDGEN:kboom-pr98-c99", source="OMIM:133780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019516 {source="DC-OMIM:133780", source="OMIM:133780"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/mesh/C536382
property_value: exactMatch http://identifiers.org/omim/133780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851402

[Term]
id: MONDO:0007590
name: hemifacial hypertrophy
def: "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." [Orphanet:141145]
subset: ordo_malformation_syndrome {source="Orphanet:141145"}
synonym: "facial asymmetry" RELATED [OMIM:133900]
synonym: "facial hemihypertrophy" RELATED [OMIM:133900]
synonym: "hemifacial hyperplasia" RELATED [OMIM:133900]
synonym: "hemifacial hypertrophy" EXACT [OMIM:133900]
xref: ICD10:Q67.4 {source="ORDO:141145/ntbt", source="Orphanet:141145", source="ORDO:141145/inclusion"}
xref: OMIM:133900 {source="ORDO:141145/e", source="MONDO:equivalentTo", source="Orphanet:141145"}
xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"}
xref: UMLS:C1399354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:141145", source="OMIM:133900"}
is_a: MONDO:0015496 {source="Orphanet:141145"} ! macroglossia
property_value: exactMatch http://identifiers.org/omim/133900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1399354
property_value: exactMatch Orphanet:141145

[Term]
id: MONDO:0007591
name: facial hypertrichosis (disease)
synonym: "facial hypertrichosis" EXACT [MONDO:ambiguous]
xref: HP:0002219 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C565029 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851400
property_value: exactMatch http://identifiers.org/mesh/C565029
property_value: exactMatch http://identifiers.org/omim/134000

[Term]
id: MONDO:0007592
name: familial recurrent peripheral facial palsy
subset: ordo_disease {source="Orphanet:2809"}
synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200]
synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809]
xref: ICD10:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="ORDO:2809/attributed", source="ORDO:2809/ntbt"}
xref: MESH:C565028 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134200 {source="Orphanet:2809", source="ORDO:2809/e", source="MONDO:equivalentTo"}
xref: Orphanet:2809 {source="MONDO:equivalentTo", source="OMIM:134200"}
xref: UMLS:C1851399 {source="Orphanet:2809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134200"}
is_a: MONDO:0020127 {source="Orphanet:2809"} ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C565028
property_value: exactMatch http://identifiers.org/omim/134200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851399
property_value: exactMatch Orphanet:2809

[Term]
id: MONDO:0007593
name: facial spasm
synonym: "facial spasm" EXACT [OMIM:134300]
xref: OMIM:134300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278151
property_value: exactMatch http://identifiers.org/omim/134300

[Term]
id: MONDO:0007594
name: factor 5 excess with spontaneous thrombosis
synonym: "factor V excess with spontaneous thrombosis" RELATED [OMIM:134400]
synonym: "Proaccelerin Excess" EXACT [MESH:C565026, OMIM:134400]
synonym: "thrombophilia with elevated Factor 5" RELATED [OMIM:134400]
xref: MESH:C565026 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134400 {source="MONDO:equivalentTo"}
xref: UMLS:C1851378 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134400"}
is_a: MONDO:0002305 {source="MESH:C565026"} ! thrombophilia
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C565026
property_value: exactMatch http://identifiers.org/omim/134400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851378

[Term]
id: MONDO:0007595
name: factor VII and Factor VIII, combined deficiency of
synonym: "factor 7 and Factor VIII, combined deficiency of" RELATED [OMIM:134430]
synonym: "factor VII and Factor VIII, combined deficiency of" EXACT [OMIM:134430]
synonym: "familial multiple coagulation Factor deficiency 4" RELATED [OMIM:134430]
synonym: "multiple coagulation Factor deficiency 4" RELATED [OMIM:134430]
xref: MESH:C565025 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134430 {source="MONDO:equivalentTo"}
xref: UMLS:C1851377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134430"}
is_a: MONDO:0021181 {source="MESH:C565025"} ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C565025
property_value: exactMatch http://identifiers.org/omim/134430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851377

[Term]
id: MONDO:0007596
name: obsolete factor VIII deficiency
is_obsolete: true
replaced_by: MONDO:0010602

[Term]
id: MONDO:0007597
name: factor VIII and Factor IX, combined deficiency of
synonym: "F8F9D" RELATED [MONDO:Lexical, OMIM:134510]
synonym: "factor 8 and Factor IX, combined deficiency of" RELATED [OMIM:134510]
synonym: "factor VIII and Factor IX, combined deficiency of" EXACT [MONDO:Lexical, OMIM:134510]
synonym: "factor VIII and factor IX, combined deficiency OF; F8F9D" RELATED [OMIM:134510]
synonym: "familial multiple coagulation Factor deficiency 2" RELATED [OMIM:134510]
xref: MESH:C565024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134510 {source="MONDO:equivalentTo"}
xref: UMLS:C1851376 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134510"}
is_a: MONDO:0003847 {source="MESH:C565024/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565024
property_value: exactMatch http://identifiers.org/omim/134510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851376

[Term]
id: MONDO:0007598
name: factors VIII, IX and XI, combined deficiency of
synonym: "factors VIII, 9 and Xi, combined deficiency of" RELATED [OMIM:134520]
synonym: "factors VIII, IX and XI, combined deficiency of" EXACT [OMIM:134520]
synonym: "familial multiple coagulation Factor deficiency 5" RELATED [OMIM:134520]
synonym: "multiple coagulation Factor deficiency 5" RELATED [OMIM:134520]
xref: MESH:C565023 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134520 {source="MONDO:equivalentTo"}
xref: UMLS:C1851375 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134520"}
is_a: MONDO:0003847 {source="MESH:C565023/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565023
property_value: exactMatch http://identifiers.org/omim/134520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851375

[Term]
id: MONDO:0007599
name: factor 9 and Factor XI, combined deficiency of
synonym: "factor IX and factor XI, combined deficiency OF" RELATED [OMIM:134540]
synonym: "familial multiple coagulation Factor deficiency 6" RELATED [OMIM:134540]
synonym: "multiple coagulation Factor deficiency 6" RELATED [OMIM:134540]
xref: MESH:C565022 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134540 {source="MONDO:equivalentTo"}
xref: UMLS:C1851374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134540"}
is_a: MONDO:0003847 {source="MESH:C565022/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565022
property_value: exactMatch http://identifiers.org/omim/134540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851374

[Term]
id: MONDO:0007600
name: primary Fanconi syndrome
def: "Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine , fructose , galactose , or glycogen , are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration ), weakness, and abnormalities of the bones." [https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome]
subset: gard_rare {source="GARD:0009118"}
subset: ordo_disease {source="Orphanet:3337"}
synonym: "Fanconi renotubular syndrome 1" RELATED [MONDO:Lexical, OMIM:134600]
synonym: "FRTS1" RELATED [MONDO:Lexical, OMIM:134600]
synonym: "primary Fanconi renotubular syndrome" EXACT [Orphanet:3337]
xref: GARD:0009118 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="ORDO:3337/ntbt", source="Orphanet:3337", source="ORDO:3337/inclusion"}
xref: NCIT:C123229 {source="MONDO:equivalentTo"}
xref: Orphanet:3337 {source="MONDO:equivalentTo", source="OMIM:134600"}
is_a: MONDO:0001083 {source="DC-OMIM:134600", source="MONDOLEX:0007600", source="OMIM:134600"} ! Fanconi renotubular syndrome
is_a: MONDO:0015962 {source="Orphanet:3337", source="indirect"} ! inherited renal tubular disease
property_value: exactMatch NCIT:C123229
property_value: exactMatch Orphanet:3337
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome xsd:anyURI {source="GARD:0009118"}

[Term]
id: MONDO:0007601
name: familial Mediterranean fever, autosomal dominant
synonym: "familial Mediterranean fever, autosomal dominant" EXACT [OMIM:134610]
synonym: "Fmf, autosomal dominant" RELATED [OMIM:134610]
xref: MESH:C565021 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134610 {source="MONDO:equivalentTo"}
xref: UMLS:C1851347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134610"}
is_a: MONDO:0018088 {source="DC-OMIM:134610", source="MESH:C565021"} ! familial Mediterranean fever
property_value: exactMatch http://identifiers.org/mesh/C565021
property_value: exactMatch http://identifiers.org/omim/134610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851347

[Term]
id: MONDO:0007602
name: obsolete favism, susceptibility to
subset: predisposition
synonym: "favism, susceptibility to" EXACT [OMIM:134700]
synonym: "moved to {300908}" RELATED [OMIM:134700]
xref: OMIM:134700 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851319
property_value: closeMatch Orphanet:362
property_value: exactMatch http://identifiers.org/omim/134700
is_obsolete: true
consider: MONDO:0010480

[Term]
id: MONDO:0007603
name: Felty syndrome
def: "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." [Orphanet:47612]
subset: gard_rare {source="GARD:0008234"}
subset: ordo_disease {source="Orphanet:47612"}
synonym: "familial Felty's syndrome" RELATED [GARD:0008234]
synonym: "Felty syndrome" EXACT [DOID:11042, OMIM:134750]
synonym: "Felty's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [DOID:11042, MTHICD9_2006:714.1]
synonym: "rheumatoid arthritis, splenomegaly and neutropenia" RELATED [GARD:0008234]
synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphanet:47612]
xref: COHD:81097 {source="MONDO:equivalentTo"}
xref: DOID:11042 {source="EFO:0007269", source="MONDO:equivalentTo"}
xref: EFO:0007269 {source="MONDO:equivalentTo"}
xref: GARD:0008234 {source="MONDO:equivalentTo"}
xref: ICD10:M05.0 {source="Orphanet:47612", source="DOID:11042", source="ORDO:47612/ntbt"}
xref: ICD10:M05.00 {source="DOID:11042"}
xref: ICD9:714.1 {source="MONDO:equivalentTo", source="DOID:11042", source="i2s"}
xref: MedDRA:10016386 {source="Orphanet:47612", source="ORDO:47612/e"}
xref: MESH:D005258 {source="EFO:0007269", source="Orphanet:47612", source="MONDO:equivalentTo", source="DOID:11042", source="MONDO:ontobio", source="ORDO:47612/e"}
xref: NCIT:C84712 {source="MONDO:equivalentTo", source="DOID:11042", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:134750 {source="Orphanet:47612", source="MONDO:equivalentTo", source="DOID:11042", source="ORDO:47612/e"}
xref: Orphanet:47612 {source="MONDO:equivalentTo", source="OMIM:134750"}
xref: SCTID:57160007 {source="MONDO:equivalentTo", source="DOID:11042", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0015773 {source="Orphanet:47612", source="NCIT:C84712", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134750", source="DOID:11042", source="ORDO:47612/e"}
is_a: MONDO:0002254 {source="DOID:11042", source="MONDOLEX:0007603", source="NCIT:C84712"} ! syndromic disease
is_a: MONDO:0008383 {source="EFO:0007269", source="MESH:D005258", source="MONDOLEX:0007603", source="linkedlifedata"} ! rheumatoid arthritis
is_a: MONDO:0015822 {source="Orphanet:47612"} ! acquired neutropenia
property_value: closeMatch http://identifiers.org/snomedct/156482001
property_value: exactMatch DOID:11042
property_value: exactMatch http://identifiers.org/meddra/10016386
property_value: exactMatch http://identifiers.org/mesh/D005258
property_value: exactMatch http://identifiers.org/omim/134750
property_value: exactMatch http://identifiers.org/snomedct/57160007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015773
property_value: exactMatch NCIT:C84712
property_value: exactMatch Orphanet:47612
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome xsd:anyURI {source="GARD:0008234"}

[Term]
id: MONDO:0007604
name: femoral-facial syndrome
def: "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." [Orphanet:1988]
subset: gard_rare {source="GARD:0000061"}
subset: ordo_malformation_syndrome {source="Orphanet:1988"}
synonym: "femoral dysgenesis, bilateral" RELATED [GARD:0000061]
synonym: "femoral facial syndrome" RELATED [GARD:0000061]
synonym: "femoral hypoplasia unusual facies syndrome" RELATED [GARD:0000061]
synonym: "femoral hypoplasia-unusual facies syndrome" EXACT [OMIM:134780, Orphanet:1988]
synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780]
synonym: "femoral-facial syndrome; FFS" RELATED [OMIM:134780]
synonym: "FFS" EXACT [MONDO:Lexical, OMIM:134780, Orphanet:1988]
synonym: "FHUFS" EXACT [Orphanet:1988]
xref: GARD:0000061 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1988/attributed", source="ORDO:1988/ntbt", source="Orphanet:1988"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537916 {source="MONDO:equivalentTo", source="ORDO:1988/e", source="MONDO:ontobio", source="Orphanet:1988"}
xref: OMIM:134780 {source="MONDO:equivalentTo", source="ORDO:1988/e", source="Orphanet:1988"}
xref: Orphanet:1988 {source="OMIM:134780", source="MONDO:equivalentTo"}
xref: SCTID:13280000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0015335 {source="Orphanet:1988"} ! orofacial clefting syndrome
is_a: MONDO:0017432 {source="Orphanet:1988"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1988", source="Orphanet:1988/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1988"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537916
property_value: exactMatch http://identifiers.org/omim/134780
property_value: exactMatch http://identifiers.org/snomedct/13280000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265263
property_value: exactMatch Orphanet:1988
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome xsd:anyURI {source="GARD:0000061"}

[Term]
id: MONDO:0007605
name: fibrinolytic defect
synonym: "fibrinolytic defect" EXACT [OMIM:134900]
xref: MESH:C565017 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:134900 {source="MONDO:equivalentTo"}
xref: UMLS:C1851184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565017
property_value: exactMatch http://identifiers.org/omim/134900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851184

[Term]
id: MONDO:0007606
name: fibrodysplasia ossificans progressiva
def: "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." [Orphanet:337]
subset: ordo_disease {source="Orphanet:337"}
synonym: "fibrodysplasia ossificans progressiva" EXACT [MONDO:Lexical, OMIM:135100]
synonym: "fibrodysplasia ossificans progressiva; fop" RELATED [OMIM:135100]
synonym: "fop" EXACT [Orphanet:337]
synonym: "fop" RELATED [MONDO:Lexical, OMIM:135100]
synonym: "myositis ossificans progressiva" EXACT [DOID:13374, Orphanet:337]
synonym: "progressive myositis ossificans" EXACT [DOID:13374, ICD9CM_2006:728.11]
synonym: "progressive ossifying myositis" EXACT [CSP2005:1982-9828, DOID:13374]
synonym: "Stone Man syndrome" EXACT [DOID:13374]
synonym: "Stone man syndrome" EXACT [Orphanet:337]
xref: DOID:13374 {source="MONDO:equivalentTo"}
xref: GARD:0006445 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M61.1 {source="ORDO:337/e", source="Orphanet:337", source="ORDO:337/specific", source="DOID:13374"}
xref: ICD10:M61.10 {source="DOID:13374"}
xref: ICD9:728.11 {source="MONDO:equivalentTo", source="DOID:13374", source="i2s"}
xref: MedDRA:10068715 {source="ORDO:337/e", source="Orphanet:337"}
xref: NCIT:C3040 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13374"}
xref: OMIM:135100 {source="ORDO:337/e", source="Orphanet:337", source="MONDO:equivalentTo", source="DOID:13374"}
xref: Orphanet:337 {source="OMIM:135100", source="MONDO:equivalentTo"}
xref: SCTID:82725007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:13374"}
xref: UMLS:C0016037 {source="NCIT:C3040", source="ORDO:337/e", source="Orphanet:337", source="OMIM:135100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13374"}
is_a: MONDO:0018231 {source="Orphanet:337"} ! primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/205527009
property_value: closeMatch http://identifiers.org/snomedct/240121004
property_value: exactMatch DOID:13374
property_value: exactMatch http://identifiers.org/meddra/10068715
property_value: exactMatch http://identifiers.org/mesh/D009221
property_value: exactMatch http://identifiers.org/omim/135100
property_value: exactMatch http://identifiers.org/snomedct/82725007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016037
property_value: exactMatch NCIT:C3040
property_value: exactMatch Orphanet:337

[Term]
id: MONDO:0007607
name: Birt-Hogg-Dube syndrome
def: "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." [Orphanet:122]
subset: ordo_malformation_syndrome {source="Orphanet:122"}
synonym: "BHD" RELATED [MONDO:Lexical, OMIM:135150]
synonym: "BHD syndrome" RELATED [GARD:0002322]
synonym: "Birt Hogg Dube syndrome" RELATED [GARD:0002322]
synonym: "Birt-Hogg-Dube syndrome" EXACT [MONDO:Lexical, NCIT:C28244, OMIM:135150]
synonym: "Birt-Hogg-Dube syndrome; BHD" RELATED [OMIM:135150]
synonym: "Birt-Hogg-Dubé syndrome" RELATED [Orphanet:122]
synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122]
synonym: "Hornstein-Knickenberg syndrome" RELATED [OMIM:135150]
xref: DOID:0050676 {source="MONDO:equivalentTo"}
xref: EFO:1001273 {source="MONDO:equivalentTo"}
xref: GARD:0002322 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067736 {source="ORDO:122/e", source="Orphanet:122"}
xref: MESH:D058249 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:122/e", source="Orphanet:122"}
xref: NCIT:C28244 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:135150 {source="DOID:0050676", source="MONDO:equivalentTo", source="ORDO:122/e", source="Orphanet:122"}
xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"}
xref: SCTID:110985001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.17"}
xref: UMLS:C0346010 {source="OMIM:135150", source="NCIT:C28244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:122/e", source="Orphanet:122"}
is_a: MONDO:0000426 {source="DOID:0050676", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015950 {source="Orphanet:122", source="indirect"} ! inherited skin tumor
is_a: MONDO:0017891 {source="Orphanet:122"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0021163 ! kidney neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:122"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch DOID:0050676
property_value: exactMatch http://identifiers.org/meddra/10067736
property_value: exactMatch http://identifiers.org/mesh/D058249
property_value: exactMatch http://identifiers.org/omim/135150
property_value: exactMatch http://identifiers.org/snomedct/110985001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346010
property_value: exactMatch NCIT:C28244
property_value: exactMatch Orphanet:122

[Term]
id: MONDO:0007608
name: desmoid tumor
def: "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." [Orphanet:873]
comment: Editor note: consider separate class for inherited disease
synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873]
synonym: "deep fibromatosis" EXACT [NCIT:C9182]
synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182]
synonym: "desmoid disease, hereditary" RELATED [OMIM:135290]
synonym: "desmoid disorder, hereditary" RELATED [GARD:0001820]
synonym: "desmoid fibromatosis" EXACT [NCIT:C9182]
synonym: "desmoid tumor" EXACT [NCIT:C9182]
synonym: "desmoid tumor caused by somatic mutation" RELATED [OMIM:135290]
synonym: "desmoid type fibromatosis" EXACT [Orphanet:873]
synonym: "desmoid-type fibromatosis" EXACT [NCIT:C9182]
synonym: "desmoid/aggressive fibromatosis" RELATED [ONCOTREE:DES]
synonym: "familial infiltrative fibromatosis" RELATED [GARD:0001820]
synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290]
synonym: "FIF" RELATED [GARD:0001820]
xref: GARD:0001820 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D48.1 {source="Orphanet:873", source="ORDO:873/ntbt"}
xref: ICDO:8821/1 {source="NCIT:C9182"}
xref: NCIT:C9182 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11"}
xref: OMIM:135290 {source="MONDO:equivalentTo", source="ORDO:873/btnt"}
xref: ONCOTREE:DES {source="MONDO:equivalentTo"}
xref: Orphanet:873 {source="MONDO:equivalentTo"}
xref: UMLS:C0079218 {source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo", source="NCIT:C9182"}
xref: UMLS:C1851124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:135290"}
xref: UMLS:CN072436 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005031 {source="MONDO:Redundant", source="NCIT:C9182"} ! fibromatosis
is_a: MONDO:0006424 {source="Orphanet:873"} ! soft tissue neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675440
property_value: exactMatch http://identifiers.org/omim/135290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079218
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072436
property_value: exactMatch NCIT:C9182
property_value: exactMatch Orphanet:873

[Term]
id: MONDO:0007609
name: fibromatosis, gingival, 1
def: "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0006509"}
synonym: "fibromatosis gingival, hereditary, 1" RELATED [GARD:0006509]
synonym: "fibromatosis, gingival, 1" EXACT [MONDO:Lexical, OMIM:135300]
synonym: "fibromatosis, gingival, 1; GINGF1" RELATED [OMIM:135300]
synonym: "fibromatosis, gingival, hereditary" RELATED [OMIM:135300]
synonym: "fibromatosis, gingival, type 1" EXACT [MONDORULE:1, OMIM:135300]
synonym: "GGF1" RELATED [OMIM:135300]
synonym: "GINGF" RELATED [OMIM:135300]
synonym: "GINGF1" RELATED [MONDO:Lexical, OMIM:135300]
synonym: "gingival fibromatosis caused by mutation in SOS1" EXACT [MONDO:design_pattern]
synonym: "gingival fibromatosis, 1" RELATED [GARD:0006509]
synonym: "hereditary gingival fibromatosis caused by mutation in SOS1" EXACT []
synonym: "hereditary gingival fibromatosis, 1" RELATED [GARD:0006509]
synonym: "HGF1" RELATED [GARD:0006509]
synonym: "SOS1 gingival fibromatosis" EXACT [MONDO:design_pattern]
synonym: "SOS1 hereditary gingival fibromatosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:0006509 {source="MONDO:equivalentTo"}
xref: OMIM:135300 {source="MONDO:equivalentTo"}
xref: UMLS:CN030594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016070 {source="DC-OMIM:135300", source="MONDO:Redundant", source="OMIM:135300"} ! hereditary gingival fibromatosis
property_value: exactMatch http://identifiers.org/omim/135300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030594
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1 xsd:anyURI {source="GARD:0006509"}

[Term]
id: MONDO:0007610
name: gingival fibromatosis-hypertrichosis syndrome
def: "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." [Orphanet:2026]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2026"}
synonym: "CGHT" EXACT [Orphanet:2026]
synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400]
synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [OMIM:135400]
synonym: "congenital generalized hypertrichosis terminalis" EXACT [Orphanet:2026]
synonym: "extreme hirsutism with gingival fibromatosis" RELATED [GARD:0002324]
synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [OMIM:135400]
synonym: "gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324]
synonym: "hereditary gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324]
synonym: "hirsutism-congenital gingival hyperplasia syndrome" EXACT [Orphanet:2026]
synonym: "HTC3" RELATED [MONDO:Lexical, OMIM:135400]
synonym: "hypertrichosis terminalis, generalized, with gingival hyperplasia" RELATED [GARD:0002324]
synonym: "hypertrichosis terminalis, generalized, with or without gingival hyperplasia" RELATED [OMIM:135400]
synonym: "hypertrichosis with or without gingival hyperplasia" EXACT [Orphanet:2026]
synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical, OMIM:135400]
synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia; HTC3" RELATED [OMIM:135400]
synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400]
synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400]
xref: GARD:0002324 {source="MONDO:equivalentTo"}
xref: ICD10:L68.8 {source="Orphanet:2026", source="ORDO:2026/attributed", source="ORDO:2026/ntbt"}
xref: MESH:C565016 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:135400 {source="ORDO:2026/e", source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo"}
xref: Orphanet:2026 {source="GARD:0002324", source="MONDO:equivalentTo", source="OMIM:135400"}
xref: SCTID:716008002 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:2026"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019280 {source="DC-OMIM:135400", source="MESH:C565016", source="Orphanet:2026", source="linkedlifedata"} ! hypertrichosis (disease)
is_a: MONDO:0019287 {source="Orphanet:2026"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851120
property_value: exactMatch http://identifiers.org/mesh/C565016
property_value: exactMatch http://identifiers.org/omim/135400
property_value: exactMatch http://identifiers.org/snomedct/716008002
property_value: exactMatch Orphanet:2026
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis xsd:anyURI {source="GARD:0002324"}

[Term]
id: MONDO:0007611
name: obsolete Zimmermann-Laband syndrome
is_obsolete: true
replaced_by: MONDO:0000200

[Term]
id: MONDO:0007612
name: gingival fibromatosis-progressive deafness syndrome
def: "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." [Orphanet:2027]
subset: ordo_malformation_syndrome {source="Orphanet:2027"}
synonym: "familial gingival fibromatosis associated with progressive deafness" RELATED [GARD:0003056]
synonym: "fibromatosis, gingival, with progressive deafness" RELATED [OMIM:135550]
synonym: "GFD" RELATED [GARD:0003056]
synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056]
synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550]
synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027]
xref: GARD:0003056 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H90.3 {source="Orphanet:2027", source="ORDO:2027/attributed", source="ORDO:2027/ntbt"}
xref: MESH:C535886 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:135550 {source="Orphanet:2027", source="ORDO:2027/e", source="MONDO:equivalentTo"}
xref: Orphanet:2027 {source="OMIM:135550", source="MONDO:equivalentTo"}
xref: SCTID:722449007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
xref: UMLS:C1851112 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:2027", source="NCBI:mim2gene_medline", source="OMIM:135550", source="ORDO:2027/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:2027"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019589 {source="Orphanet:2027"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535886
property_value: exactMatch http://identifiers.org/omim/135550
property_value: exactMatch http://identifiers.org/snomedct/722449007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851112
property_value: exactMatch Orphanet:2027

[Term]
id: MONDO:0007613
name: obsolete fibromuscular dysplasia of arteries
is_obsolete: true
replaced_by: MONDO:0006761

[Term]
id: MONDO:0007614
name: congenital fibrosis of extraocular muscles
subset: ordo_disease {source="Orphanet:45358"}
subset: prototype_pattern
synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700]
synonym: "CFEOM1" RELATED [MONDO:Lexical, OMIM:135700]
synonym: "congenital fibrosis of the extraocular muscles" EXACT [MONDO:0000869]
synonym: "FEOM" EXACT [Orphanet:45358]
synonym: "Feom1 locus" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital" EXACT [OMIMPS:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1; CFEOM1" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE:1, OMIM:135700]
synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700]
synonym: "Tukel syndrome" NARROW [DOID:0080143]
xref: DOID:0080143 {source="MONDO:equivalentTo"}
xref: GARD:0012590 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H49.8 {source="Orphanet:45358", source="ORDO:45358/attributed", source="ORDO:45358/ntbt"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:135700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="MONDO:equivalentTo", source="OMIM:135700"}
xref: SCTID:400946004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.79"}
xref: UMLS:C1302995 {source="Orphanet:45358", source="MONDO:equivalentTo"}
xref: UMLS:CN043677 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001584 {source="DOID:0080143", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease
is_a: MONDO:0004746 ! myopathy of extraocular muscle
is_a: MONDO:0016106 {source="Orphanet:45358"} ! progressive muscular dystrophy
is_a: MONDO:0020169 {source="Orphanet:45358"} ! rare disorder with ptosis
is_a: MONDO:0020253 {source="Orphanet:45358"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851102
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751105
property_value: exactMatch DOID:0080143
property_value: exactMatch http://identifiers.org/snomedct/400946004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043677
property_value: exactMatch Orphanet:45358

[Term]
id: MONDO:0007615
name: laurin-Sandrow syndrome
def: "Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." [Orphanet:2378]
subset: gard_rare {source="GARD:0000155"}
subset: ordo_malformation_syndrome {source="Orphanet:2378"}
synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [OMIM:135750]
synonym: "fibula ulna duplication tibia radius absence" RELATED [GARD:0000155]
synonym: "laurin Sandrow syndrome" RELATED [GARD:0000155]
synonym: "laurin-Sandrow syndrome" EXACT [MONDO:Lexical, OMIM:135750]
synonym: "laurin-Sandrow syndrome, segmental" RELATED [OMIM:135750]
synonym: "laurin-Sandrow syndrome; LSS" RELATED [OMIM:135750]
synonym: "LSS" RELATED [MONDO:Lexical, OMIM:135750]
synonym: "mirror hands and feet with nasal defects" RELATED [OMIM:135750]
synonym: "mirror hands and feets-nasal defects syndrome" EXACT [Orphanet:2378]
synonym: "mirror-Image polydactyly" RELATED [OMIM:135750]
synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378]
synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750]
xref: GARD:0000155 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:2378", source="ORDO:2378/attributed", source="ORDO:2378/ntbt"}
xref: MESH:C535689 {source="ORDO:2378/e", source="Orphanet:2378", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:135750 {source="ORDO:2378/e", source="Orphanet:2378", source="MONDO:equivalentTo"}
xref: Orphanet:2378 {source="MONDO:equivalentTo", source="OMIM:135750"}
xref: SCTID:715440003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.91"}
is_a: MONDO:0017434 {source="Orphanet:2378"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851101
property_value: exactMatch http://identifiers.org/mesh/C535689
property_value: exactMatch http://identifiers.org/omim/135750
property_value: exactMatch http://identifiers.org/snomedct/715440003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851100
property_value: exactMatch Orphanet:2378
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome xsd:anyURI {source="GARD:0000155"}

[Term]
id: MONDO:0007616
name: fibula, recurrent dislocation of head of
synonym: "fibula, recurrent dislocation of head of" EXACT [OMIM:135800]
xref: MESH:C565011 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:135800 {source="MONDO:equivalentTo"}
xref: UMLS:C1851099 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:135800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565011
property_value: exactMatch http://identifiers.org/omim/135800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851099

[Term]
id: MONDO:0007617
name: Coffin-Siris syndrome 1
subset: gard_rare {source="GARD:0009945"}
synonym: "COFFIN-SIRIS syndrome" RELATED [MONDO:Lexical, OMIM:135900]
synonym: "COFFIN-SIRIS syndrome 1; CSS1" RELATED [OMIM:135900]
synonym: "COFFIN-SIRIS syndrome; CSS" RELATED [OMIM:135900]
synonym: "CSS" RELATED [MONDO:Lexical, OMIM:135900]
synonym: "fifth digit syndrome" RELATED [OMIM:135900]
synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT [OMIM:609943]
xref: GARD:0009945 {source="MONDO:equivalentTo"}
xref: MESH:C538391 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:135900 {source="MONDO:equivalentTo"}
xref: OMIM:609943 {source="MONDO:equivalentTo"}
xref: UMLS:C1864967 {source="OMIM:609943", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN029606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="DC-OMIM:135900", source="OMIM:135900", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
property_value: exactMatch http://identifiers.org/mesh/C538391
property_value: exactMatch http://identifiers.org/omim/135900
property_value: exactMatch http://identifiers.org/omim/609943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029606
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features xsd:string {source="GARD:0009945"}

[Term]
id: MONDO:0007618
name: Eng-Strom syndrome
def: "Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." [Orphanet:1937]
subset: ordo_malformation_syndrome {source="Orphanet:1937"}
synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [OMIM:135950]
synonym: "short stature-locking fingers syndrome" EXACT [Orphanet:1937]
xref: ICD10:Q87.1 {source="ORDO:1937/attributed", source="ORDO:1937/ntbt", source="Orphanet:1937"}
xref: OMIM:135950 {source="MONDO:equivalentTo", source="ORDO:1937/e", source="Orphanet:1937"}
xref: Orphanet:1937 {source="MONDO:equivalentTo", source="OMIM:135950"}
xref: UMLS:C2931545 {source="MONDO:equivalentTo", source="ORDO:1937/e", source="MEDGEN:kboom-pr87-c94", source="Orphanet:1937"}
is_a: MONDO:0015329 {source="Orphanet:1937"} ! malformation syndrome with short stature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851081
property_value: exactMatch http://identifiers.org/omim/135950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931545
property_value: exactMatch Orphanet:1937

[Term]
id: MONDO:0007619
name: isolated congenital adermatoglyphia
def: "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." [Orphanet:289465]
subset: ordo_disease {source="Orphanet:289465"}
synonym: "absence of fingerprints" RELATED [GARD:0012550]
synonym: "ADERM" RELATED [MONDO:Lexical, OMIM:136000]
synonym: "adermatoglyphia" RELATED [MONDO:Lexical, OMIM:136000]
synonym: "adermatoglyphia; ADERM" RELATED [OMIM:136000]
synonym: "ADG" RELATED [GARD:0012550]
synonym: "congenital absence of fingerprints" EXACT [Orphanet:289465]
synonym: "fingerprints, absence of" RELATED [OMIM:136000]
synonym: "immigration delay disease" EXACT [Orphanet:289465]
xref: GARD:0012550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:289465", source="ORDO:289465/attributed", source="ORDO:289465/ntbt"}
xref: MESH:C565010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136000 {source="ORDO:289465/e", source="Orphanet:289465", source="MONDO:equivalentTo"}
xref: Orphanet:289465 {source="OMIM:136000", source="MONDO:equivalentTo"}
xref: SCTID:763748007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015331 {source="Orphanet:289465"} ! malformation syndrome with skin/mucosae involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851080
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852150
property_value: exactMatch http://identifiers.org/mesh/C565010
property_value: exactMatch http://identifiers.org/omim/136000
property_value: exactMatch http://identifiers.org/snomedct/763748007
property_value: exactMatch Orphanet:289465

[Term]
id: MONDO:0007620
name: fish eye disease
def: "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." [Orphanet:79292]
subset: gard_rare {source="GARD:0006450"}
subset: ordo_clinical_subtype {source="Orphanet:79292"}
synonym: "alpha-LCAT deficiency" RELATED [OMIM:136120]
synonym: "alpha-lecithin cholesterol acyltransferase deficiency" RELATED [GARD:0006450]
synonym: "alpha-lecithin:cholesterol acyltransferase deficiency" RELATED [OMIM:136120]
synonym: "dyslipoproteinemic corneal dystrophy" RELATED [OMIM:136120]
synonym: "fed" EXACT [MONDO:Lexical, OMIM:136120, Orphanet:79292]
synonym: "fish eye disease" EXACT [MONDO:Lexical, OMIM:136120]
synonym: "fish-eye disease; fed" RELATED [OMIM:136120]
synonym: "LCATA deficiency" RELATED [OMIM:136120]
synonym: "partial LCAT deficiency" EXACT [Orphanet:79292]
xref: GARD:0006450 {source="MONDO:equivalentTo"}
xref: ICD10:E78.6 {source="Orphanet:79292", source="ORDO:79292/attributed", source="ORDO:79292/ntbt"}
xref: OMIM:136120 {source="ORDO:79292/e", source="Orphanet:79292", source="MONDO:equivalentTo"}
xref: Orphanet:79292 {source="OMIM:136120", source="MONDO:equivalentTo"}
xref: SCTID:238092004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342895 {source="OMIM:136120", source="ORDO:79292/e", source="Orphanet:79292", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018999 {source="Orphanet:79292"} ! LCAT deficiency
property_value: exactMatch http://identifiers.org/mesh/C538467
property_value: exactMatch http://identifiers.org/omim/136120
property_value: exactMatch http://identifiers.org/snomedct/238092004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342895
property_value: exactMatch Orphanet:79292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease xsd:anyURI {source="GARD:0006450"}

[Term]
id: MONDO:0007621
name: floating-Harbor syndrome
def: "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." [Orphanet:2044]
subset: gard_rare {source="GARD:0006455"}
subset: ordo_malformation_syndrome {source="Orphanet:2044"}
synonym: "FHS" RELATED [GARD:0006455]
synonym: "FLHS" RELATED [MONDO:Lexical, OMIM:136140]
synonym: "floating-Harbor syndrome" EXACT [MONDO:Lexical, OMIM:136140]
synonym: "floating-HARBOR syndrome; FLHS" RELATED [OMIM:136140]
synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455]
synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455]
xref: GARD:0006455 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2044", source="ORDO:2044/attributed", source="ORDO:2044/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2044/e"}
xref: OMIM:136140 {source="Orphanet:2044", source="MONDO:equivalentTo", source="ORDO:2044/e"}
xref: Orphanet:2044 {source="OMIM:136140", source="MONDO:equivalentTo"}
xref: SCTID:312214005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0729582 {source="OMIM:136140", source="Orphanet:2044", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2044/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2044", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:2044"} ! malformation syndrome with short stature
property_value: exactMatch http://identifiers.org/mesh/C537062
property_value: exactMatch http://identifiers.org/omim/136140
property_value: exactMatch http://identifiers.org/snomedct/312214005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729582
property_value: exactMatch Orphanet:2044
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome xsd:anyURI {source="GARD:0006455"}

[Term]
id: MONDO:0007622
name: flood factor deficiency
synonym: "flood factor deficiency" EXACT [OMIM:136150]
xref: MESH:C565009 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136150 {source="MONDO:equivalentTo"}
xref: UMLS:C1851056 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136150"}
is_a: MONDO:0002242 {source="MESH:C565009"} ! coagulation protein disease
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C565009
property_value: exactMatch http://identifiers.org/omim/136150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851056

[Term]
id: MONDO:0007623
name: flushing of ears and somnolence
synonym: "flushing of ears and somnolence" EXACT [OMIM:136200]
xref: OMIM:136200 {source="MONDO:equivalentTo"}
xref: UMLS:C1851055 {source="OMIM:136200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/136200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851055

[Term]
id: MONDO:0007624
name: Flynn-Aird syndrome
def: "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." [https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome]
subset: gard_rare {source="GARD:0002347"}
subset: ordo_disease {source="Orphanet:2047"}
synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental" RELATED [GARD:0002347]
synonym: "Flynn Aird syndrome" RELATED [GARD:0002347]
synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300]
xref: GARD:0002347 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2047", source="ORDO:2047/attributed", source="ORDO:2047/ntbt"}
xref: MESH:C537066 {source="Orphanet:2047", source="ORDO:2047/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136300 {source="Orphanet:2047", source="ORDO:2047/e", source="MONDO:equivalentTo"}
xref: Orphanet:2047 {source="MONDO:equivalentTo", source="OMIM:136300"}
xref: SCTID:239056006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343108 {source="Orphanet:2047", source="ORDO:2047/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136300"}
is_a: MONDO:0000426 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal dominant disease
is_a: MONDO:0019303 {source="Orphanet:2047"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0019117 {source="Orphanet:2047"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C537066
property_value: exactMatch http://identifiers.org/omim/136300
property_value: exactMatch http://identifiers.org/snomedct/239056006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343108
property_value: exactMatch Orphanet:2047
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome xsd:anyURI {source="GARD:0002347"}

[Term]
id: MONDO:0007625
name: focal epithelial hyperplasia of the oral mucosa
synonym: "focal epithelial hyperplasia of the oral mucosa" EXACT [OMIM:136400]
xref: MESH:C565008 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136400 {source="MONDO:equivalentTo"}
xref: UMLS:C1851009 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565008
property_value: exactMatch http://identifiers.org/omim/136400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851009

[Term]
id: MONDO:0007626
name: familial congenital palsy of trochlear nerve
def: "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0010355"}
subset: ordo_disease {source="Orphanet:91498"}
synonym: "fourth cranial nerve palsy, familial congenital" RELATED [OMIM:136480]
synonym: "hereditary fourth cranial nerve palsy" EXACT [MONDO:patterns/hereditary]
synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480]
synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480]
synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480]
xref: GARD:0010355 {source="MONDO:equivalentTo"}
xref: ICD10:H49.1 {source="ORDO:91498/attributed", source="ORDO:91498/ntbt", source="Orphanet:91498"}
xref: MESH:C565007 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136480 {source="ORDO:91498/e", source="MONDO:equivalentTo", source="Orphanet:91498"}
xref: Orphanet:91498 {source="MONDO:equivalentTo", source="OMIM:136480"}
xref: UMLS:C1850996 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91498", source="OMIM:136480"}
is_a: MONDO:0015083 {source="Orphanet:91498", source="Orphanet:91498/inferred"} ! nuclear oculomotor paralysis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020256 {source="Orphanet:91498"} ! congenital trochlear nerve palsy
intersection_of: MONDO:0001146 ! fourth cranial nerve palsy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C565007
property_value: exactMatch http://identifiers.org/omim/136480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850996
property_value: exactMatch Orphanet:91498
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve xsd:anyURI {source="GARD:0010355"}

[Term]
id: MONDO:0007627
name: focal facial dermal dysplasia type I
def: "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia." [Orphanet:79133]
subset: ordo_clinical_subtype {source="Orphanet:79133"}
synonym: "bitemporal aplasia cutis congenita" EXACT [Orphanet:79133]
synonym: "Brauer syndrome" EXACT [Orphanet:79133]
synonym: "FFDD type I" EXACT [Orphanet:79133]
synonym: "FFDD, type 1" RELATED [GARD:0008416]
synonym: "FFDD1" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133]
synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133]
synonym: "focal facial dermal dysplasia 1, Brauer type; FFDD1" RELATED [OMIM:136500]
synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133]
synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500]
xref: GARD:0008416 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="ORDO:79133/attributed", source="ORDO:79133/ntbt", source="Orphanet:79133"}
xref: OMIM:136500 {source="MONDO:equivalentTo", source="ORDO:79133/e", source="Orphanet:79133"}
xref: Orphanet:79133 {source="MONDO:equivalentTo", source="OMIM:136500"}
xref: UMLS:CN776929 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018363 {source="OMIM:136500", source="ORDO:398166/btnt", source="Orphanet:79133"} ! focal facial dermal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536385
property_value: exactMatch http://identifiers.org/mesh/C537068
property_value: exactMatch http://identifiers.org/omim/136500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776929
property_value: exactMatch Orphanet:79133

[Term]
id: MONDO:0007628
name: foveal hypoplasia 1
def: "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "foveal hypoplasia 1" EXACT [MONDO:Lexical, OMIM:136520]
synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" RELATED [OMIM:136520]
synonym: "foveal hypoplasia 1; FVH1" RELATED [OMIM:136520]
synonym: "foveal hypoplasia caused by mutation in PAX6" EXACT [MONDO:design_pattern]
synonym: "foveal hypoplasia type 1" EXACT [MONDORULE:1, OMIM:136520]
synonym: "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" RELATED [GARD:0000406]
synonym: "foveal hypoplasia, presenile cataract" RELATED [GARD:0000406]
synonym: "FVH1" RELATED [MONDO:Lexical, OMIM:136520]
synonym: "O Donnell Pappas syndrome" RELATED [GARD:0000406]
synonym: "PAX6 foveal hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0000406 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:136520 {source="MONDO:equivalentTo"}
xref: UMLS:C3805604 {source="MONDO:equivalentTo", source="OMIM:136520"}
is_a: MONDO:0044203 {source="MONDO:Redundant", source="OMIM:136520"} ! foveal hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850992
property_value: exactMatch http://identifiers.org/omim/136520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805604

[Term]
id: MONDO:0007629
name: fragile site 10Q23
synonym: "fragile site 10Q23" EXACT [OMIM:136540]
synonym: "fragile site type 10Q23" EXACT [MONDORULE:7, OMIM:136540]
xref: OMIM:136540 {source="MONDO:equivalentTo"}
xref: UMLS:C1850987 {source="NCBI:mim2gene_medline", source="OMIM:136540", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/136540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850987

[Term]
id: MONDO:0007630
name: North Carolina macular dystrophy
def: "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." [Orphanet:75327]
subset: gard_rare {source="GARD:0009179"}
subset: ordo_disease {source="Orphanet:75327"}
synonym: "CAPE dystrophy" EXACT [Orphanet:75327]
synonym: "caped" EXACT [Orphanet:75327]
synonym: "central areolar pigment epithelial dystrophy" EXACT [OMIM:136550, Orphanet:75327]
synonym: "central retinal pigment epithelial dystrophy" EXACT [Orphanet:75327]
synonym: "foveal dystrophy progressive" RELATED [GARD:0009179]
synonym: "foveal dystrophy, progressive" RELATED [OMIM:136550]
synonym: "foveal dystrophy, progressive, formerly" RELATED [OMIM:136550]
synonym: "macular dystrophy retinal 1 North Carolina type" RELATED [GARD:0009179]
synonym: "macular dystrophy, retinal, 1, NORTH Carolina type" RELATED [MONDO:Lexical, OMIM:136550]
synonym: "macular dystrophy, retinal, 1, NORTH Carolina type; MCDR1" RELATED [OMIM:136550]
synonym: "MCDR1" EXACT [MONDO:Lexical, OMIM:136550, Orphanet:75327]
synonym: "NCMD" EXACT [Orphanet:75327]
synonym: "North Carolina macular dystrophy" EXACT [OMIM:136550]
synonym: "North Carolina macular dystrophy, retinal 1" EXACT [Orphanet:75327]
synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327]
synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179]
synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550]
xref: GARD:0009179 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="ORDO:75327/attributed", source="ORDO:75327/ntbt"}
xref: MESH:C537835 {source="ORDO:75327/e", source="MONDO:equivalentTo", source="Orphanet:75327", source="MONDO:ontobio"}
xref: OMIM:136550 {source="ORDO:75327/e", source="MONDO:equivalentTo", source="Orphanet:75327"}
xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"}
xref: SCTID:312925009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0730294 {source="OMIM:136550", source="ORDO:75327/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75327"}
is_a: MONDO:0020243 {source="Orphanet:75327"} ! colobomatous and areolar dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537835
property_value: exactMatch http://identifiers.org/omim/136550
property_value: exactMatch http://identifiers.org/snomedct/312925009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730294
property_value: exactMatch Orphanet:75327
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy xsd:anyURI {source="GARD:0009179"}

[Term]
id: MONDO:0007631
name: chromosome 16p12.1 deletion syndrome, 520kb
def: "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." [NCIT:C129875]
synonym: "chromosome 16p12.1 deletion syndrome" EXACT [NCIT:C129875]
synonym: "chromosome 16p12.1 deletion syndrome, 520-KB" RELATED [OMIM:136570]
synonym: "chromosome 16p12.1 deletion syndrome, type 520kb" EXACT [DOID:0060399, MONDORULE:9]
synonym: "fragile site 16P12" RELATED [OMIM:136570]
synonym: "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" RELATED [OMIM:136570]
xref: DOID:0060399 {source="MONDO:equivalentTo"}
xref: MESH:C565001 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129875 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: OMIM:136570 {source="DOID:0060399", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:136570", source="DOID:0060399"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDOLEX:0007631", source="NCIT:C129875"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850985
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149276
property_value: exactMatch DOID:0060399
property_value: exactMatch http://identifiers.org/mesh/C565001
property_value: exactMatch http://identifiers.org/omim/136570
property_value: exactMatch NCIT:C129875

[Term]
id: MONDO:0007632
name: fragile site, Distamycin a type, rare, fra(16)(q22.1)
synonym: "FRA16B" RELATED [MONDO:Lexical, OMIM:136580]
synonym: "fragile site 16Q22" RELATED [OMIM:136580]
synonym: "fragile site, Distamycin a type, rare, fra(16)(q22.1)" EXACT [MONDO:Lexical, OMIM:136580]
synonym: "fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1); FRA16B" RELATED [OMIM:136580]
xref: OMIM:136580 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414721
property_value: exactMatch http://identifiers.org/omim/136580

[Term]
id: MONDO:0007633
name: Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness
synonym: "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" EXACT [OMIM:136600]
xref: MESH:C564999 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136600 {source="MONDO:equivalentTo"}
xref: UMLS:C1850982 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136600"}
is_a: MONDO:0003847 {source="MESH:C564999/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564999
property_value: exactMatch http://identifiers.org/omim/136600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850982

[Term]
id: MONDO:0007634
name: intellectual disability, FRA12A type
synonym: "mental retardation, FRA12A type" RELATED [OMIM:136630]
xref: MESH:C566980 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136630 {source="MONDO:equivalentTo"}
xref: UMLS:C1969893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136630"}
is_a: MONDO:0003847 {source="MESH:C566980/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566980
property_value: exactMatch http://identifiers.org/omim/136630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969893

[Term]
id: MONDO:0007635
name: Frasier syndrome
def: "Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." [Orphanet:347]
subset: gard_rare {source="GARD:0002375"}
subset: ordo_disease {source="Orphanet:347"}
synonym: "Frasier syndrome" EXACT [OMIM:136680]
xref: DOID:0050438 {source="MONDO:equivalentTo"}
xref: GARD:0002375 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="Orphanet:347", source="ORDO:347/attributed", source="ORDO:347/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="MONDO:ontobio", source="ORDO:347/e"}
xref: NCIT:C122805 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050438"}
xref: OMIM:136680 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="ORDO:347/e"}
xref: Orphanet:347 {source="OMIM:136680", source="MONDO:equivalentTo"}
xref: SCTID:445431000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0050438"}
xref: UMLS:C0950122 {source="OMIM:136680", source="Orphanet:347", source="NCBI:mim2gene_medline", source="NCIT:C122805", source="MONDO:equivalentTo", source="DOID:0050438", source="ORDO:347/e"}
is_a: MONDO:0000426 {source="DOID:0050438", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122805", source="indirect"} ! syndromic disease
is_a: MONDO:0015163 {source="Orphanet:347"} ! primary glomerular disease
is_a: MONDO:0015945 {source="Orphanet:347"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017978 {source="Orphanet:347"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:347"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch DOID:0050438
property_value: exactMatch http://identifiers.org/mesh/D052159
property_value: exactMatch http://identifiers.org/omim/136680
property_value: exactMatch http://identifiers.org/snomedct/445431000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950122
property_value: exactMatch NCIT:C122805
property_value: exactMatch Orphanet:347
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome xsd:anyURI {source="GARD:0002375"}

[Term]
id: MONDO:0007636
name: frontorhiny
def: "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." [Orphanet:391474]
subset: ordo_malformation_syndrome {source="Orphanet:391474"}
synonym: "ALX3-related frontonasal dysplasia" EXACT [Orphanet:391474]
synonym: "FND1" RELATED [MONDO:Lexical, OMIM:136760]
synonym: "frontonasal dysplasia" RELATED [OMIM:136760]
synonym: "frontonasal dysplasia 1" RELATED [MONDO:Lexical, OMIM:136760]
synonym: "frontonasal dysplasia 1; FND1" RELATED [OMIM:136760]
synonym: "frontonasal dysplasia type 1" EXACT [MONDORULE:1, OMIM:136760]
synonym: "frontonasal malformation" RELATED [OMIM:136760]
synonym: "frontorhiny" EXACT [OMIM:136760]
synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474]
synonym: "isolated median cleft syndrome" RELATED [GARD:0012642]
synonym: "median Facial cleft syndrome" RELATED [OMIM:136760]
xref: GARD:0012642 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:391474/attributed", source="ORDO:391474/ntbt", source="Orphanet:391474"}
xref: OMIM:136760 {source="MONDO:equivalentTo", source="ORDO:391474/e", source="Orphanet:391474"}
xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"}
is_a: MONDO:0015412 {source="MONDOLEX:0007636", source="Orphanet:391474"} ! median facial cleft
is_a: MONDO:0015961 {source="Orphanet:391474", source="Orphanet:391474/inferred"} ! genetic head and neck malformation
is_a: MONDO:0016643 {source="DC-OMIM:136760", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia
property_value: exactMatch http://identifiers.org/omim/136760
property_value: exactMatch Orphanet:391474

[Term]
id: MONDO:0007637
name: corneal dystrophy, Fuchs endothelial, 1
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL8A2 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 1" EXACT [MONDO:Lexical, OMIM:136800]
synonym: "corneal dystrophy, Fuchs endothelial, 1; FECD1" RELATED [OMIM:136800]
synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [OMIM:136800]
synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1, OMIM:136800]
synonym: "FECD1" RELATED [MONDO:Lexical, OMIM:136800]
synonym: "Fuchs' endothelial dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern]
xref: MESH:C535478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136800 {source="MONDO:equivalentTo"}
xref: UMLS:C1850959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136800"}
is_a: MONDO:0005321 {source="DC-OMIM:136800", source="MESH:C535478", source="MONDO:Redundant", source="MONDOLEX:0007637", source="OMIM:136800"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535478
property_value: exactMatch http://identifiers.org/omim/136800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850959

[Term]
id: MONDO:0007638
name: fucosidase regulator
synonym: "Alpha-L-fucosidase regulator" RELATED [OMIM:136830]
synonym: "fucosidase regulator" EXACT [OMIM:136830]
xref: OMIM:136830 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850954
property_value: exactMatch http://identifiers.org/omim/136830

[Term]
id: MONDO:0007639
name: fundus albipunctatus
def: "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." [Orphanet:227796]
subset: ordo_disease {source="Orphanet:227796"}
synonym: "fundus albipunctatus" EXACT [OMIM:136880]
synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM_2006:362.74]
synonym: "retinitis punctata albescens" EXACT [DOID:11105, OMIM:136880]
xref: COHD:373472 {source="MONDO:equivalentTo"}
xref: DOID:11105 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:227796/attributed", source="ORDO:227796/ntbt", source="Orphanet:227796"}
xref: ICD10:H35.52 {source="DOID:11105"}
xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:362.76 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562733 {source="DOID:11105", source="MONDO:equivalentTo"}
xref: OMIM:136880 {source="DOID:11105", source="MONDO:equivalentTo", source="Orphanet:227796", source="ORDO:227796/e"}
xref: Orphanet:227796 {source="OMIM:136880", source="MONDO:equivalentTo"}
xref: SCTID:68222009 {source="DOID:11105", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.84/1.22"}
is_a: MONDO:0016420 {source="Orphanet:227796"} ! familial flecked retinopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311338
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1405854
property_value: exactMatch DOID:11105
property_value: exactMatch http://identifiers.org/mesh/C562733
property_value: exactMatch http://identifiers.org/omim/136880
property_value: exactMatch http://identifiers.org/snomedct/68222009
property_value: exactMatch Orphanet:227796

[Term]
id: MONDO:0007640
name: Sorsby's fundus dystrophy
def: "Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." [Orphanet:59181]
subset: ordo_disease {source="Orphanet:59181"}
synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [OMIM:136900]
synonym: "hemorrhagic macular dystrophy" EXACT [DOID:0090114]
synonym: "macular dystrophy, hemorrhagic" RELATED [OMIM:136900]
synonym: "pseudoinflammatory fundus dystrophy of Sorsby" EXACT [DOID:0090114]
synonym: "SFD" EXACT [DOID:0090114, MONDO:Lexical, OMIM:136900]
synonym: "Sorsby fundus dystrophy" RELATED [MONDO:Lexical, OMIM:136900]
synonym: "Sorsby fundus dystrophy; SFD" RELATED [OMIM:136900]
synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [Orphanet:59181]
synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511]
xref: DOID:0090114 {source="MONDO:equivalentTo"}
xref: GARD:0010511 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:subClassOf", source="Orphanet:59181", source="ORDO:59181/attributed", source="ORDO:59181/ntbt"}
xref: MESH:C564992 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="ORDO:59181/e"}
xref: Orphanet:59181 {source="MONDO:equivalentTo", source="OMIM:136900"}
xref: SCTID:193410003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020244 {source="Orphanet:59181"} ! unclassified primitive or secondary maculopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850938
property_value: exactMatch DOID:0090114
property_value: exactMatch http://identifiers.org/mesh/C564992
property_value: exactMatch http://identifiers.org/omim/136900
property_value: exactMatch http://identifiers.org/snomedct/193410003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339515
property_value: exactMatch Orphanet:59181

[Term]
id: MONDO:0007641
name: Futcher line
synonym: "Futcher line" EXACT [OMIM:137000]
xref: OMIM:137000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850937
property_value: exactMatch http://identifiers.org/omim/137000

[Term]
id: MONDO:0007642
name: isolated agenesis of gallbladder
subset: ordo_morphological_anomaly {source="Orphanet:440987"}
synonym: "gallbladder, agenesis OF" RELATED [OMIM:137040]
xref: ICD10:Q44.0 {source="ORDO:440987/ntbt", source="Orphanet:440987"}
xref: MESH:C562564 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137040 {source="MONDO:equivalentTo"}
xref: Orphanet:440987 {source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="Orphanet:440987"} ! biliary tract disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266251
property_value: exactMatch http://identifiers.org/mesh/C562564
property_value: exactMatch http://identifiers.org/omim/137040
property_value: exactMatch Orphanet:440987

[Term]
id: MONDO:0007643
name: gamma-A-globulin, defect in assembly of
synonym: "gamma-A-globulin, defect in ASSEMBLY OF" RELATED [OMIM:137050]
synonym: "IgA, defect in Assembly of" RELATED [OMIM:137050]
synonym: "Immunoglobulin A, defect in Assembly of" RELATED [OMIM:137050]
xref: MESH:C564991 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137050 {source="MONDO:equivalentTo"}
xref: UMLS:C1850934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137050"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564991
property_value: exactMatch http://identifiers.org/omim/137050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850934

[Term]
id: MONDO:0007644
name: IgAD1
def: "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." [NCIT:C123434]
synonym: "gamma-A-globulin, selective deficiency of" RELATED [OMIM:137100]
synonym: "IgA, selective deficiency of" RELATED [OMIM:137100]
synonym: "IgAD1" EXACT [MONDO:Lexical, OMIM:137100]
synonym: "IMMUNOGLOBULIN A deficiency 1" RELATED [MONDO:Lexical, OMIM:137100]
synonym: "IMMUNOGLOBULIN A deficiency 1; IgAD1" RELATED [OMIM:137100]
synonym: "Immunoglobulin A, selective deficiency of" RELATED [OMIM:137100]
xref: COHD:433171 {source="MONDO:equivalentTo"}
xref: MESH:C536290 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123434 {source="MONDO:equivalentTo"}
xref: OMIM:137100 {source="MONDO:equivalentTo"}
is_a: MONDO:0001341 {source="DC-OMIM:137100", source="MESH:C536290"} ! selective IgA deficiency disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931161
property_value: closeMatch Orphanet:69127
property_value: exactMatch http://identifiers.org/mesh/C536290
property_value: exactMatch http://identifiers.org/omim/137100
property_value: exactMatch NCIT:C123434

[Term]
id: MONDO:0007645
name: gastric sneezing
synonym: "gastric sneezing" EXACT [OMIM:137130]
synonym: "stomach sneeze reflex" RELATED [OMIM:137130]
xref: MESH:C564990 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137130 {source="MONDO:equivalentTo"}
xref: UMLS:C1850930 {source="OMIM:137130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564990
property_value: exactMatch http://identifiers.org/omim/137130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850930

[Term]
id: MONDO:0007646
name: Gamstorp-Wohlfart syndrome
def: "Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." [Orphanet:324442]
subset: ordo_disease {source="Orphanet:324442"}
synonym: "ARAN-NM" EXACT [Orphanet:324442]
synonym: "ARCMT2-NM" EXACT [Orphanet:324442]
synonym: "autosomal recessive axonal neuropathy with neuromyotonia" RELATED [Orphanet:324442]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" EXACT [Orphanet:324442]
synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [DOID:0050526]
synonym: "Gamstorp-Wohlfart syndrome" EXACT [OMIM:137200]
synonym: "myokymia, myotonia and muscle wasting" EXACT [DOID:0050526]
synonym: "myokymia, myotonia, and muscle wasting" RELATED [OMIM:137200]
synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:137200]
synonym: "neuromyotonia and axonal neuropathy, autosomal recessive; NMAN" RELATED [OMIM:137200]
synonym: "NMAN" RELATED [MONDO:Lexical, OMIM:137200]
xref: DOID:0050526 {source="MONDO:equivalentTo"}
xref: GARD:0012353 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:324442/attributed", source="ORDO:324442/ntbt", source="Orphanet:324442"}
xref: OMIM:137200 {source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442", source="ORDO:324442/e"}
xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"}
xref: SCTID:711406009 {source="MONDO:kboom-pr-1.00/0.80/9.70", source="MONDO:equivalentTo"}
xref: UMLS:CN074193 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0050526", source="MONDOLEX:0007646"} ! syndromic disease
is_a: MONDO:0019601 {source="Orphanet:324442"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242287
property_value: exactMatch DOID:0050526
property_value: exactMatch http://identifiers.org/omim/137200
property_value: exactMatch http://identifiers.org/snomedct/711406009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074193
property_value: exactMatch Orphanet:324442

[Term]
id: MONDO:0007647
name: gastric volvulus, intrathoracic
synonym: "gastric volvulus, intrathoracic" EXACT [OMIM:137210]
xref: MESH:C564989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137210 {source="MONDO:equivalentTo"}
xref: UMLS:C1850902 {source="OMIM:137210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564989
property_value: exactMatch http://identifiers.org/omim/137210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850902

[Term]
id: MONDO:0007648
name: hereditary diffuse gastric adenocarcinoma
def: "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." [NCIT:C43295]
comment: Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD
subset: clingen
subset: gard_rare {source="GARD:0010900"}
subset: ordo_disease {source="Orphanet:26106"}
synonym: "breast cancer, lobular" RELATED [OMIM:137215]
synonym: "diffuse gastric cancer" RELATED [GARD:0010334]
synonym: "familial diffuse cancer of stomach" EXACT [Orphanet:26106]
synonym: "familial diffuse gastric cancer" EXACT [Orphanet:26106]
synonym: "FDGC" EXACT [Orphanet:26106]
synonym: "gastric cancer, familial diffuse" RELATED [OMIM:137215]
synonym: "gastric cancer, familial diffuse, and cleft lip with or without cleft palate" RELATED [OMIM:137215]
synonym: "gastric cancer, hereditary diffuse" RELATED [MONDO:Lexical, OMIM:137215]
synonym: "gastric cancer, hereditary diffuse; HDGC" RELATED [OMIM:137215]
synonym: "HDGC" EXACT [MONDO:Lexical, OMIM:137215, Orphanet:26106]
synonym: "hereditary diffuse cancer of stomach" EXACT [Orphanet:26106]
synonym: "hereditary diffuse gastric adenocarcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C43295, Orphanet:26106]
synonym: "hereditary diffuse gastric cancer" EXACT [NCIT:C43295]
synonym: "signet cell adenocarcinoma" RELATED [GARD:0010334]
synonym: "signet ring cell gastric carcinoma" RELATED [GARD:0010334]
synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334]
xref: GARD:0010334 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0010900 {source="MONDO:equivalentTo"}
xref: ICD10:C16.9 {source="ORDO:26106/nd", source="ORDO:26106/attributed", source="Orphanet:26106"}
xref: NCIT:C43295 {source="MONDO:equivalentTo"}
xref: OMIM:137215 {source="MONDO:equivalentTo", source="ORDO:26106/e", source="Orphanet:26106"}
xref: Orphanet:26106 {source="MONDO:equivalentTo", source="OMIM:137215"}
xref: SCTID:716859000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.71"}
xref: UMLS:C1708349 {source="NCIT:C43295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137215", source="Orphanet:26106"}
is_a: MONDO:0005017 {source="MONDO:Redundant", source="MONDOLEX:0007648", source="NCIT:C43295"} ! diffuse gastric adenocarcinoma
is_a: MONDO:0015617 {source="Orphanet:26106"} ! genetic gastro-esophageal disease
is_a: MONDO:0018502 {source="MONDO:Redundant", source="Orphanet:26106"} ! hereditary gastric cancer
intersection_of: MONDO:0005017 ! diffuse gastric adenocarcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149287
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549742
property_value: exactMatch http://identifiers.org/omim/137215
property_value: exactMatch http://identifiers.org/snomedct/716859000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708349
property_value: exactMatch NCIT:C43295
property_value: exactMatch Orphanet:26106
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer xsd:anyURI {source="GARD:0010900"}

[Term]
id: MONDO:0007649
name: gastric juice peptides
synonym: "gastric juice peptides" EXACT [OMIM:137220]
xref: OMIM:137220 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850901
property_value: exactMatch http://identifiers.org/omim/137220

[Term]
id: MONDO:0007650
name: MALT lymphoma
def: "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" [NCIT:C3898]
subset: ordo_disease {source="Orphanet:52417"}
synonym: "Extranodal marginal zone B-cell lymphoma" EXACT [Orphanet:52417]
synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898]
synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" EXACT [NCIT:C3898]
synonym: "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898]
synonym: "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)" RELATED [ONCOTREE:EMALT]
synonym: "familial primary gastric lymphoma" RELATED [GARD:0006485]
synonym: "gastric lymphoma, primary" RELATED [OMIM:137245]
synonym: "Immunocytoma" EXACT [NCIT:C3898]
synonym: "lymphoma of mucosa-associated lymphoid tissue" EXACT [MONDO:design_pattern]
synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [OMIM:137245]
synonym: "MALT lymphoma" EXACT [NCIT:C3898, OMIM:137245]
synonym: "MALT-lymphoma" EXACT [NCIT:C3898]
synonym: "MALToma" EXACT [NCIT:C3898, Orphanet:52417]
synonym: "mucosa-associated lymphatic tissue lymphoma" EXACT [Orphanet:52417]
synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO:patterns/location, NCIT:C3898, Orphanet:52417]
xref: COHD:40482893 {source="MONDO:equivalentTo"}
xref: DOID:0050909 {source="MONDO:equivalentTo", source="EFO:0000191"}
xref: EFO:0000191 {source="MONDO:equivalentTo"}
xref: GARD:0006485 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:C88.4 {source="ORDO:52417/e", source="Orphanet:52417"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9699/3 {source="NCIT:C3898"}
xref: MedDRA:10060707 {source="ORDO:52417/e", source="Orphanet:52417"}
xref: NCIT:C3898 {source="MONDO:equivalentTo", source="EFO:0000191", source="MONDO:kboom-pr-0.93/0.83/0.68"}
xref: OMIM:137245 {source="MONDO:equivalentTo", source="ORDO:52417/e", source="Orphanet:52417"}
xref: ONCOTREE:EMALT {source="MONDO:equivalentTo"}
xref: Orphanet:52417 {source="MONDO:equivalentTo"}
xref: SCTID:277622004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.20"}
xref: UMLS:C0242647 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:52417", source="NCIT:C3898"}
xref: UMLS:C1850900 {source="MEDGEN:kboom-pr98-c99", source="OMIM:137245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: Wikipedia:MALT_lymphoma {source="EFO:0000191"}
is_a: MONDO:0004949 {source="EFO:0000191", source="NCIT:C3898/inferred", source="ONCOTREE:EMALT/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0017604 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417", source="linkedlifedata", source="linkedlifedata/inferred"} ! marginal zone lymphoma
property_value: exactMatch DOID:0050909
property_value: exactMatch http://identifiers.org/meddra/10060707
property_value: exactMatch http://identifiers.org/omim/137245
property_value: exactMatch http://identifiers.org/snomedct/277622004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850900
property_value: exactMatch NCIT:C3898
property_value: exactMatch Orphanet:52417

[Term]
id: MONDO:0007651
name: gastrocutaneous syndrome
subset: gard_rare {source="GARD:0002438"}
subset: ordo_disease {source="Orphanet:2069"}
synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270]
synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270]
xref: GARD:0002438 {source="MONDO:equivalentTo"}
xref: MESH:C535651 {source="Orphanet:2069", source="ORDO:2069/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137270 {source="Orphanet:2069", source="ORDO:2069/e", source="MONDO:equivalentTo"}
xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"}
xref: UMLS:C1850899 {source="Orphanet:2069", source="ORDO:2069/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137270"}
is_a: MONDO:0019289 {source="Orphanet:2069"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C535651
property_value: exactMatch http://identifiers.org/omim/137270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850899
property_value: exactMatch Orphanet:2069
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome xsd:anyURI {source="GARD:0002438"}

[Term]
id: MONDO:0007652
name: gastric mucosal hypertrophy
def: "MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." [Orphanet:2494]
subset: ordo_disease {source="Orphanet:2494"}
synonym: "familial giant hypertrophic gastritis" EXACT [DOID:8757]
synonym: "gastritis, familial giant hypertrophic" RELATED [OMIM:137280]
synonym: "Gastroenteropathy, protein losing" RELATED [GARD:0002436]
synonym: "giant hypertrophic gastritis" EXACT [Orphanet:2494]
synonym: "giant hypertrophic gastropathy" RELATED [GARD:0002436]
synonym: "giant hypertrophy of the gastric mucosa" RELATED [GARD:0002436]
synonym: "giant rugal hypertrophy of stomach" EXACT [DOID:8757]
synonym: "hypertrophic gastritis" EXACT [DOID:8757, MTHICD9_2006:535.2]
synonym: "hypertrophic gastropathy" EXACT [DOID:8757, GARD:0002436]
synonym: "hypoproteinemic hypertrophic gastropathy" EXACT [Orphanet:2494]
synonym: "MENETRIER disease" EXACT [DOID:8757]
synonym: "Menetrier disease" RELATED [OMIM:137280]
synonym: "Menetrier's disease" EXACT [NCIT:C67277]
synonym: "Ménétrier disease" EXACT [NCIT:C67277]
xref: COHD:201059 {source="MONDO:equivalentTo"}
xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"}
xref: EFO:1000946 {source="MONDO:equivalentTo"}
xref: GARD:0002436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K29.6 {source="DOID:8757", source="ORDO:2494/ntbt", source="Orphanet:2494"}
xref: ICD9:535.2 {source="DOID:8757", source="EFO:1000946"}
xref: ICD9:535.20 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:535.21 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10017807 {source="EFO:1000946", source="Orphanet:2494", source="ORDO:2494/e"}
xref: MedDRA:10017868 {source="Orphanet:2494", source="ORDO:2494/e"}
xref: MESH:D005758 {source="DOID:8757", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1000946"}
xref: NCIT:C67277 {source="DOID:8757", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:137280 {source="DOID:8757", source="MONDO:equivalentTo", source="Orphanet:2494", source="ORDO:2494/e"}
xref: Orphanet:2494 {source="MONDO:equivalentTo", source="OMIM:137280"}
xref: SCTID:60002000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"}
xref: UMLS:C0017155 {source="DOID:8757", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C67277", source="Orphanet:2494", source="ORDO:2494/e"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="MONDOLEX:0007652", source="NCIT:C67277", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
is_a: MONDO:0015111 {source="Orphanet:2494"} ! gastroesophageal disease
property_value: closeMatch http://identifiers.org/snomedct/235665008
property_value: closeMatch http://identifiers.org/snomedct/413219009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936660
property_value: exactMatch DOID:8757
property_value: exactMatch http://identifiers.org/meddra/10017807
property_value: exactMatch http://identifiers.org/meddra/10017868
property_value: exactMatch http://identifiers.org/mesh/D005758
property_value: exactMatch http://identifiers.org/omim/137280
property_value: exactMatch http://identifiers.org/snomedct/60002000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017155
property_value: exactMatch NCIT:C67277
property_value: exactMatch Orphanet:2494

[Term]
id: MONDO:0007653
name: genochondromatosis
subset: gard_rare {source="GARD:0010621"}
subset: prototype_pattern
synonym: "genochondromatosis" EXACT [OMIM:137360]
xref: GARD:0010621 {source="MONDO:equivalentTo"}
xref: MESH:C563215 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137360 {source="MONDO:equivalentTo"}
xref: SCTID:389264005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1300229 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137360"}
is_a: MONDO:0003847 {source="MESH:C563215/inferred", source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563215
property_value: exactMatch http://identifiers.org/omim/137360
property_value: exactMatch http://identifiers.org/snomedct/389264005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300229
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis xsd:anyURI {source="GARD:0010621"}

[Term]
id: MONDO:0007654
name: genu valgum, st. Helena familial
subset: gard_rare {source="GARD:0008429"}
synonym: "genu valgum, hereditary pubertal" RELATED [OMIM:137370]
synonym: "genu valgum, st Helena familial" RELATED [GARD:0008429]
synonym: "genu valgum, st. Helena familial" EXACT [OMIM:137370]
synonym: "hereditary pubertal genu valgum" RELATED [GARD:0008429]
synonym: "severe 'knock-knees' and variable lesser malalignment at the elbows and wrists" RELATED [GARD:0008429]
synonym: "St. Helena familial genu valgum" RELATED [GARD:0008429]
xref: GARD:0008429 {source="MONDO:equivalentTo"}
xref: MESH:C537685 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137370 {source="MONDO:equivalentTo"}
xref: UMLS:C1842052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137370"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537685
property_value: exactMatch http://identifiers.org/omim/137370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842052
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial xsd:anyURI {source="GARD:0008429"}

[Term]
id: MONDO:0007655
name: fissured tongue
synonym: "congenital fissure of tongue" NARROW [DOID:11514]
synonym: "congenital plicated tongue" NARROW [DOID:11514]
synonym: "ectopic geographic tongue" RELATED [GARD:0006493]
synonym: "erythema migrans" RELATED [GARD:0006493]
synonym: "fissure of tongue" EXACT [DOID:11514]
synonym: "fissure of tongue, congenital" NARROW [DOID:11514, ICD9CM_2006:750.13]
synonym: "Furrowed tongue" EXACT [DOID:11514, MTHICD9_2006:529.5]
synonym: "geographic and fissured tongue" RELATED [OMIM:137400]
synonym: "geographic tongue and fissured tongue" EXACT [DOID:11514]
synonym: "glossitis, benign migratory" RELATED [OMIM:137400]
synonym: "lingua plicata" EXACT [DOID:11514, OMIM:137400]
synonym: "plicated tongue" EXACT [DOID:11514, ICD9CM_2006:529.5]
synonym: "scrotal tongue" EXACT [DOID:11514, OMIM:137400]
synonym: "tongue, fissured" EXACT [DOID:11514]
xref: COHD:441896 {source="MONDO:equivalentTo"}
xref: DOID:11514 {source="MONDO:equivalentTo"}
xref: GARD:0006493 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K14.5 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: ICD9:529.5 {source="DOID:11514", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:750.13 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014063 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: OMIM:137400 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: SCTID:52368004 {source="DOID:11514", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.67/0.61"}
xref: UMLS:C0040412 {source="DOID:11514", source="MONDO:equivalentTo", source="OMIM:137400"}
xref: UMLS:C1842051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137400", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001165 {source="DOID:11514", source="MESH:D014063", source="linkedlifedata"} ! tongue disease
property_value: closeMatch http://identifiers.org/snomedct/204627005
property_value: exactMatch DOID:11514
property_value: exactMatch http://identifiers.org/mesh/D014063
property_value: exactMatch http://identifiers.org/omim/137400
property_value: exactMatch http://identifiers.org/snomedct/52368004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842051

[Term]
id: MONDO:0007656
name: Gerstmann-Straussler-Scheinker syndrome
def: "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." [NCIT:P378]
comment: Editor note: MESH considers as two diseases
subset: ordo_disease {source="Orphanet:356"}
synonym: "amyloidosis cerebral with spongiform encephalopathy" RELATED [GARD:0007690]
synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [OMIM:137440]
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" RELATED [OMIM:137440]
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system" RELATED [GARD:0007690]
synonym: "cerebral amyloid angiopathy, Prnp-related" RELATED [OMIM:137440]
synonym: "encephalopathy subacute spongiform Gerstmann-Straussler type" RELATED [GARD:0007690]
synonym: "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" RELATED [OMIM:137440]
synonym: "Gerstmann Straussler Scheinker syndrome" RELATED [GARD:0007690]
synonym: "Gerstmann-Straussler disease" RELATED [MONDO:Lexical, OMIM:137440]
synonym: "Gerstmann-Straussler disease; GSD" RELATED [OMIM:137440]
synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [DOID:4249, OMIM:137440]
synonym: "GSD" RELATED [MONDO:Lexical, OMIM:137440]
synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440]
synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356]
xref: DOID:4249 {source="MONDO:equivalentTo"}
xref: GARD:0007690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:A81.8 {source="Orphanet:356", source="ORDO:356/attributed", source="ORDO:356/ntbt"}
xref: ICD10:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"}
xref: ICD9:046.71 {source="DOID:4249"}
xref: MedDRA:10072075 {source="Orphanet:356", source="ORDO:356/e"}
xref: MESH:C535800 {source="MONDO:equivalentTo"}
xref: NCIT:C84727 {source="MONDO:equivalentTo", source="DOID:4249", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:137440 {source="Orphanet:356", source="MONDO:equivalentTo", source="DOID:4249", source="ORDO:356/e"}
xref: Orphanet:356 {source="OMIM:137440", source="MONDO:equivalentTo"}
xref: SCTID:67155006 {source="MONDO:equivalentTo", source="DOID:4249", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0017495 {source="Orphanet:356", source="OMIM:137440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4249", source="NCIT:C84727", source="ORDO:356/e"}
is_a: MONDO:0017234 {source="Orphanet:356"} ! inherited prion disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3805618
property_value: exactMatch DOID:4249
property_value: exactMatch http://identifiers.org/meddra/10072075
property_value: exactMatch http://identifiers.org/mesh/C535800
property_value: exactMatch http://identifiers.org/mesh/D016098
property_value: exactMatch http://identifiers.org/omim/137440
property_value: exactMatch http://identifiers.org/snomedct/67155006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017495
property_value: exactMatch NCIT:C84727
property_value: exactMatch Orphanet:356

[Term]
id: MONDO:0007657
name: giant neutrophil leukocytes
synonym: "giant neutrophil leukocytes" EXACT [OMIM:137500]
xref: OMIM:137500 {source="MONDO:equivalentTo"}
xref: UMLS:C1842039 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/137500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842039

[Term]
id: MONDO:0007658
name: obsolete spitz nevus
def: "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626]
comment: Obsoleted as was conflated with congenital melanocytic nevus
is_obsolete: true
replaced_by: MONDO:0044793

[Term]
id: MONDO:0007659
name: obsolete giant platelet syndrome with thrombocytopenia
synonym: "giant platelet syndrome with thrombocytopenia" EXACT [OMIM:137560]
synonym: "moved to 155100" RELATED [OMIM:137560]
xref: MESH:C564237 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: OMIM:137560 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1842035 {source="OMIM:137560", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/mesh/C564237
property_value: exactMatch http://identifiers.org/omim/137560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842035
is_obsolete: true
consider: MONDO:0007954

[Term]
id: MONDO:0007660
name: familial ossifying fibroma
def: "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:435329"}
synonym: "cemental dysplasia, periapical" RELATED [OMIM:137575]
synonym: "Cementomas, familial multiple" RELATED [OMIM:137575]
synonym: "GIGANTIFORM cementoma, familial" RELATED [OMIM:137575]
synonym: "hereditary ossifying fibroma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "intracortical fibrous dysplasia" RELATED [GARD:0010887]
synonym: "Jaffe-Campanacci syndrome" RELATED [GARD:0010887]
synonym: "multiple ossifying fibroma" EXACT [Orphanet:435329]
xref: GARD:0010887 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:D16.4 {source="ORDO:435329/attributed", source="ORDO:435329/ntbt", source="Orphanet:435329"}
xref: MESH:C563017 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137575 {source="ORDO:435329/e", source="MONDO:equivalentTo", source="Orphanet:435329"}
xref: Orphanet:435329 {source="MONDO:equivalentTo"}
xref: UMLS:CN237560 {source="MONDO:equivalentTo"}
is_a: MONDO:0002119 ! ossifying fibroma (disease)
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0002119 ! ossifying fibroma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495361
property_value: exactMatch http://identifiers.org/mesh/C563017
property_value: exactMatch http://identifiers.org/omim/137575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237560
property_value: exactMatch Orphanet:435329

[Term]
id: MONDO:0007661
name: Tourette syndrome
def: "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." [NCIT:P378]
synonym: "chronic motor tics" RELATED [OMIM:137580]
synonym: "Gilles De 50A Tourette syndrome" RELATED [OMIM:137580]
synonym: "Gilles DE LA TOURETTE syndrome" RELATED [MONDO:Lexical, OMIM:137580]
synonym: "Gilles DE LA TOURETTE syndrome; GTS" RELATED [OMIM:137580]
synonym: "GTS" RELATED [MONDO:Lexical, OMIM:137580]
synonym: "Guinon's disease" EXACT [CSP2005:2042-5068, DOID:11119]
synonym: "motor-verbal tic disorder" EXACT [DOID:11119, MTHICD9_2006:307.23]
synonym: "psychogenic tics" EXACT [DOID:11119]
synonym: "Tourette disorder" RELATED [OMIM:137580]
synonym: "Tourette syndrome" EXACT [DOID:11119, OMIM:137580]
synonym: "Tourette's syndrome" EXACT [NCIT:C35078]
xref: DOID:11119 {source="MONDO:equivalentTo"}
xref: EFO:0004895 {source="DOID:11119", source="MONDO:equivalentTo"}
xref: GARD:0007783 {source="MONDO:equivalentTo"}
xref: ICD10:F95.2 {source="DOID:11119"}
xref: ICD9:307.23 {source="DOID:11119"}
xref: MESH:D005879 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"}
xref: NCIT:C35078 {source="EFO:0004895", source="MONDO:kboom-pr-0.97/0.86/1.91", source="DOID:11119", source="MONDO:equivalentTo"}
xref: OMIM:137580 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"}
xref: SCTID:5158005 {source="DOID:11119", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0007661", source="NCIT:C35078"} ! syndromic disease
is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879", source="linkedlifedata"} ! tic disorder
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://identifiers.org/snomedct/154936002
property_value: closeMatch http://identifiers.org/snomedct/192624004
property_value: closeMatch http://identifiers.org/snomedct/268778009
property_value: closeMatch http://identifiers.org/snomedct/39098006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040517
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1392622
property_value: closeMatch Orphanet:856
property_value: exactMatch DOID:11119
property_value: exactMatch http://identifiers.org/mesh/D005879
property_value: exactMatch http://identifiers.org/omim/137580
property_value: exactMatch http://identifiers.org/snomedct/5158005
property_value: exactMatch NCIT:C35078

[Term]
id: MONDO:0007662
name: anterior segment dysgenesis 4
def: "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "anterior segment dysgenesis 4; ASGD4" RELATED [OMIM:137600]
synonym: "ASGD4" RELATED [OMIM:137600]
synonym: "IRID2" EXACT [GARD:0003026, MONDO:Lexical, OMIM:137600]
synonym: "iridogoniodysgenesis caused by mutation in PITX2" EXACT [MONDO:design_pattern]
synonym: "iridogoniodysgenesis syndrome" BROAD [OMIM:137600]
synonym: "iridogoniodysgenesis type 2" RELATED [GARD:0003026]
synonym: "iridogoniodysgenesis, type 2" EXACT [MONDO:Lexical, OMIM:137600]
synonym: "iridogoniodysgenesis, type 2; IRID2" EXACT [OMIM:137600]
synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [OMIM:137600]
synonym: "PITX2 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0003026 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:137600 {source="MONDO:equivalentTo"}
xref: UMLS:C1842031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137600"}
is_a: MONDO:0019628 {source="ORDO:91483/btnt"} ! Rieger anomaly
property_value: exactMatch http://identifiers.org/omim/137600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842031

[Term]
id: MONDO:0007663
name: glaucoma with elevated episcleral venous pressure
synonym: "glaucoma with elevated episcleral venous pressure" EXACT [OMIM:137700]
xref: MESH:C564235 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137700 {source="MONDO:equivalentTo"}
xref: UMLS:C1842030 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137700"}
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: exactMatch http://identifiers.org/mesh/C564235
property_value: exactMatch http://identifiers.org/omim/137700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842030

[Term]
id: MONDO:0007664
name: glaucoma 1, open angle, A
def: "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glaucoma 1, open angle, 50" RELATED [OMIM:137750]
synonym: "glaucoma 1, open angle, A" EXACT [MONDO:Lexical, OMIM:137750]
synonym: "glaucoma 1, open angle, A; GLC1A" RELATED [OMIM:137750]
synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1, OMIM:137750]
synonym: "glaucoma hereditary, juvenile" RELATED [GARD:0009485]
synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [OMIM:137750]
synonym: "GLC1A" RELATED [MONDO:Lexical, OMIM:137750]
synonym: "JOAG1" BROAD [GARD:0009485]
synonym: "JOAG1A" EXACT []
synonym: "juvenile glaucoma caused by mutation in MYOC" EXACT [MONDO:design_pattern]
synonym: "juvenile open angle glaucoma caused by mutation in MYOC" EXACT []
synonym: "MYOC juvenile glaucoma" EXACT [MONDO:design_pattern]
synonym: "MYOC juvenile open angle glaucoma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "primary open angle glaucoma juvenile onset 1" RELATED [GARD:0009485]
xref: GARD:0009485 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564234 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137750 {source="MONDO:equivalentTo"}
xref: UMLS:C1842028 {source="NCBI:mim2gene_medline", source="OMIM:137750", source="MONDO:equivalentTo"}
is_a: MONDO:0020367 {source="MONDO:Redundant", source="ORDO:98977/btnt"} ! juvenile open angle glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1825363
property_value: exactMatch http://identifiers.org/mesh/C564234
property_value: exactMatch http://identifiers.org/omim/137750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842028

[Term]
id: MONDO:0007665
name: primary open angle glaucoma
def: "A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." [NCIT:P378]
comment: Editor note: consider splitting OMIM entry
synonym: "chronic simple glaucoma" EXACT [DOID:1070]
synonym: "glaucoma 1, open angle, E" RELATED [OMIM:137760]
synonym: "glaucoma, primary open angle" RELATED [MONDO:Lexical, OMIM:137760]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:137760]
synonym: "glaucoma, primary open angle; POAG" RELATED [OMIM:137760]
synonym: "POAG" RELATED [MONDO:Lexical, OMIM:137760]
xref: COHD:435262 {source="MONDO:equivalentTo"}
xref: DOID:1070 {source="MONDO:equivalentTo"}
xref: ICD10:H40.1 {source="MONDO:equivalentTo"}
xref: ICD10:H40.11 {source="DOID:1070"}
xref: ICD9:365.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:1070"}
xref: MESH:C562750 {source="MONDO:equivalentTo", source="DOID:1070"}
xref: NCIT:C35394 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1070"}
xref: OMIM:137760 {source="MONDO:equivalentTo", source="DOID:1070"}
xref: SCTID:77075001 {source="MONDO:equivalentTo", source="DOID:1070", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005338 {source="DOID:1070", source="MESH:C562750", source="MONDOLEX:0007665", source="NCIT:C35394", source="linkedlifedata"} ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: closeMatch http://identifiers.org/snomedct/155122001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339573
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842026
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863926
property_value: exactMatch DOID:1070
property_value: exactMatch http://identifiers.org/mesh/C562750
property_value: exactMatch http://identifiers.org/omim/137760
property_value: exactMatch http://identifiers.org/snomedct/77075001
property_value: exactMatch NCIT:C35394

[Term]
id: MONDO:0007666
name: glaucoma-sleep apnea syndrome
def: "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." [Orphanet:2085]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2085"}
synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763]
synonym: "glaucoma sleep apnea" RELATED [GARD:0002483]
xref: GARD:0002483 {source="MONDO:equivalentTo"}
xref: MESH:C564232 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137763 {source="MONDO:equivalentTo", source="Orphanet:2085", source="ORDO:2085/e", source="GARD:0002483"}
xref: Orphanet:2085 {source="MONDO:equivalentTo", source="OMIM:137763", source="GARD:0002483"}
xref: UMLS:C1842025 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137763", source="Orphanet:2085", source="GARD:0002483"}
is_a: MONDO:0015218 {source="Orphanet:2085"} ! syndromic developmental defect of the eye
is_a: MONDO:0020222 {source="Orphanet:2085"} ! rare disease with glaucoma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C564232
property_value: exactMatch http://identifiers.org/omim/137763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842025
property_value: exactMatch Orphanet:2085
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea xsd:anyURI {source="GARD:0002483"}

[Term]
id: MONDO:0007667
name: subependymoma
def: "Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." [Orphanet:251639]
subset: ordo_histopathological_subtype {source="Orphanet:251639"}
subset: prototype_pattern
synonym: "mixed subependymoma-ependymoma" EXACT [DOID:4843]
synonym: "subependymal astrocytoma" EXACT [DOID:4843, NCIT:C3795, NCIT:C6989]
synonym: "subependymal astrocytoma (formerly)" RELATED [GARD:0010070]
synonym: "subependymal astrocytoma NOS" RELATED EXCLUDE [DOID:4843]
synonym: "subependymal glioma" EXACT [NCIT:C3795]
synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795]
synonym: "SUBEPENDYMOMA, benign" EXACT [NCIT:C3795]
synonym: "WHO grade I ependymal neoplasm" EXACT [NCIT:C3795]
synonym: "WHO grade I ependymal tumor" EXACT [DOID:4843, NCIT:C3795]
xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"}
xref: EFO:1000553 {source="MONDO:equivalentTo"}
xref: EFO:1001197 {source="MONDO:equivalentTo"}
xref: GARD:0010070 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D43.2 {source="Orphanet:251639", source="ORDO:251639/ntbt"}
xref: ICDO:9383/1 {source="NCIT:C3795"}
xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"}
xref: NCIT:C3795 {source="EFO:1000553", source="MONDO:equivalentTo", source="DOID:4843"}
xref: ONCOTREE:SUBE {source="MONDO:equivalentTo"}
xref: Orphanet:251639 {source="MONDO:equivalentTo"}
xref: UMLS:C0206725 {source="Orphanet:251639", source="MONDO:equivalentTo", source="DOID:4843", source="NCIT:C3795", source="ORDO:251639/e"}
is_a: MONDO:0016697 {source="Orphanet:251639"} ! low grade ependymoma
property_value: closeMatch http://identifiers.org/snomedct/189910001
property_value: closeMatch http://identifiers.org/snomedct/4553004
property_value: exactMatch DOID:4843
property_value: exactMatch http://identifiers.org/mesh/D018315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206725
property_value: exactMatch NCIT:C3795
property_value: exactMatch Orphanet:251639

[Term]
id: MONDO:0007668
name: globulin anomaly involving beta (2A)-globulin
synonym: "globulin anomaly involving beta (2A)-globulin" EXACT [OMIM:137900]
xref: MESH:C564229 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137900 {source="MONDO:equivalentTo"}
xref: UMLS:C1842009 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564229
property_value: exactMatch http://identifiers.org/omim/137900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842009

[Term]
id: MONDO:0007669
name: renal cysts and diabetes syndrome
def: "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." [Orphanet:93111]
subset: gard_rare {source="GARD:0010221"}
subset: ordo_disease {source="Orphanet:93111"}
synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [DOID:0111101]
synonym: "atypical FJHN" EXACT [DOID:0111101]
synonym: "CAKUT with diabetes" EXACT [DOID:0111101]
synonym: "congenital anomalies of the kidney and urinary tract with diabetes" EXACT [DOID:0111101, OMIM:137920]
synonym: "familial hypoplastic glomerulocystic kidney" EXACT [DOID:0111101]
synonym: "FJHN atypical" RELATED [GARD:0010221]
synonym: "FJHN, atypical" RELATED [OMIM:137920]
synonym: "glomerulocystic kidney disease, hypoplastic type" RELATED [OMIM:137920]
synonym: "glomerulocystic kidney, familial hypoplastic" RELATED [OMIM:137920]
synonym: "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" EXACT [NCIT:C123018]
synonym: "HNF1B-MODY" EXACT [Orphanet:93111]
synonym: "HNF1B-related renal cysts and diabetes syndrome" EXACT [Orphanet:93111]
synonym: "hyperuricemic nephropathy, familial juvenile, atypical" RELATED [OMIM:137920]
synonym: "hypoplastic type glomerulocystic kidney disease" EXACT [DOID:0111101]
synonym: "maturity onset diabetes of the Young, type 5" EXACT [NCIT:C123018]
synonym: "maturity-onset diabetes of the young type 5" RELATED [DOID:0111101]
synonym: "maturity-onset diabetes of the Young, type 5" RELATED [OMIM:137920]
synonym: "MODY type 5" RELATED [GARD:0010221]
synonym: "MODY5" EXACT [DOID:0111101, Orphanet:93111]
synonym: "RCAD" EXACT [DOID:0111101, MONDO:Lexical, OMIM:137920]
synonym: "RCAD syndrome" EXACT [Orphanet:93111]
synonym: "renal cysts and diabetes syndrome" EXACT [DOID:0111101, MONDO:Lexical, OMIM:137920]
synonym: "renal cysts and diabetes syndrome; RCAD" RELATED [OMIM:137920]
synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orphanet:93111]
synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111]
xref: DOID:0111101 {source="MONDO:equivalentTo"}
xref: GARD:0010221 {source="MONDO:equivalentTo"}
xref: ICD10:E11.2 {source="Orphanet:93111", source="ORDO:93111/attributed", source="ORDO:93111/ntbt"}
xref: MESH:C535520 {source="ORDO:93111/e", source="Orphanet:93111", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123018 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:137920 {source="ORDO:93111/e", source="Orphanet:93111", source="MONDO:equivalentTo", source="DOID:0111101"}
xref: Orphanet:93111 {source="MONDO:equivalentTo", source="OMIM:137920"}
xref: SCTID:446641003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0431693 {source="Orphanet:93111", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137920", source="NCIT:C123018"}
xref: UMLS:CN206512 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018911 {source="DOID:0111101"} ! maturity-onset diabetes of the young (disease)
is_a: MONDO:0019721 {source="Orphanet:93111"} ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0111101
property_value: exactMatch http://identifiers.org/mesh/C535520
property_value: exactMatch http://identifiers.org/omim/137920
property_value: exactMatch http://identifiers.org/snomedct/446641003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2959918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206512
property_value: exactMatch NCIT:C123018
property_value: exactMatch Orphanet:93111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 xsd:anyURI {source="GARD:0010221"}

[Term]
id: MONDO:0007670
name: hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
def: "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []
subset: ordo_disease {source="Orphanet:69735"}
synonym: "hypotrichosis lymphedema telangiectasia syndrome" RELATED [GARD:0012827]
xref: GARD:0012827 {source="shared-xref", source="MONDO:equivalentTo"}
xref: Orphanet:69735 {source="MONDO:equivalentTo"}
is_a: MONDO:0018722 {source="Orphanet:69735"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="Orphanet:69735"} ! syndromic lymphedema
property_value: closeMatch Orphanet:2087
property_value: exactMatch Orphanet:69735

[Term]
id: MONDO:0007671
name: fibronectin glomerulopathy
def: "fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." [Orphanet:84090]
comment: Editor note: consider splitting out type 1, and also separate class for giant subtype
subset: gard_rare
subset: ordo_disease {source="Orphanet:84090"}
subset: prototype_pattern
synonym: "fibronectin glomerulopathy" EXACT [MESH:C536826]
synonym: "GFND" EXACT [Orphanet:84090]
synonym: "GFND1" RELATED [GARD:0009268, MESH:C536826, MONDO:Lexical, OMIM:137950]
synonym: "GFND2" RELATED [MESH:C536826]
synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [MESH:C536826]
synonym: "glomerulopathy with fibronectin deposits" EXACT [Orphanet:84090]
synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MONDO:Lexical, OMIM:137950]
synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826]
synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826]
synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826]
xref: DC:0000174
xref: GARD:0009268 {source="MONDO:equivalentTo"}
xref: ICD10:N07.6 {source="ORDO:84090/attributed", source="ORDO:84090/ntbt", source="Orphanet:84090"}
xref: MESH:C536826 {source="MONDO:equivalentTo"}
xref: MESH:C562900 {source="MONDO:equivalentTo"}
xref: OMIMPS:137950 {source="DC:0000174", source="MONDO:equivalentTo"}
xref: Orphanet:84090 {source="MONDO:equivalentTo", source="OMIM:137950", source="GARD:0009268"}
xref: SCTID:236535001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:84090"} ! primary glomerular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866075
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888104
property_value: exactMatch http://identifiers.org/mesh/C536826
property_value: exactMatch http://identifiers.org/mesh/C562900
property_value: exactMatch http://identifiers.org/snomedct/236535001
property_value: exactMatch Orphanet:84090
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 xsd:anyURI {source="GARD:0009268"}

[Term]
id: MONDO:0007672
name: glomuvenous malformation
def: "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." [Orphanet:83454]
subset: ordo_malformation_syndrome {source="Orphanet:83454"}
synonym: "glomangiomas, multiple" RELATED [OMIM:138000]
synonym: "glomangiomatosis" EXACT [Orphanet:83454]
synonym: "glomus tumors, multiple" RELATED [OMIM:138000]
synonym: "GLOMUVENOUS malformations" RELATED [MONDO:Lexical, OMIM:138000]
synonym: "GLOMUVENOUS malformations; GVM" RELATED [OMIM:138000]
synonym: "GVM" RELATED [MONDO:Lexical, OMIM:138000]
synonym: "hereditary multiple glomangiomas" EXACT [Orphanet:83454]
synonym: "multiple glomus tumors" EXACT [Orphanet:83454]
synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454]
synonym: "VMGLOM" EXACT [Orphanet:83454]
xref: ICD10:Q27.8 {source="Orphanet:83454", source="ORDO:83454/attributed", source="ORDO:83454/ntbt"}
xref: MedDRA:10018381 {source="ORDO:83454/e", source="Orphanet:83454"}
xref: MESH:C536827 {source="ORDO:83454/e", source="Orphanet:83454", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138000 {source="ORDO:83454/e", source="Orphanet:83454", source="MONDO:equivalentTo"}
xref: Orphanet:83454 {source="OMIM:138000", source="MONDO:equivalentTo"}
xref: SCTID:715644000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.16"}
xref: UMLS:C1841984 {source="OMIM:138000", source="ORDO:83454/e", source="NCBI:mim2gene_medline", source="Orphanet:83454", source="MONDO:equivalentTo"}
is_a: MONDO:0015145 {source="Orphanet:83454"} ! neurovascular malformation
is_a: MONDO:0015953 {source="Orphanet:83454", source="Orphanet:83454/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018730 {source="MONDO:Redundant", source="Orphanet:83454"} ! rare genetic venous malformation
property_value: exactMatch http://identifiers.org/meddra/10018381
property_value: exactMatch http://identifiers.org/mesh/C536827
property_value: exactMatch http://identifiers.org/omim/138000
property_value: exactMatch http://identifiers.org/snomedct/715644000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841984
property_value: exactMatch Orphanet:83454

[Term]
id: MONDO:0007673
name: Glucoglycinuria
synonym: "Glucoglycinuria" EXACT [OMIM:138070]
xref: MESH:C562670 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138070 {source="MONDO:equivalentTo"}
xref: UMLS:C0268536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:138070"}
is_a: MONDO:0003847 {source="MESH:C562670/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562670
property_value: exactMatch http://identifiers.org/omim/138070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268536

[Term]
id: MONDO:0007674
name: glucose-6-phosphate dehydrogenase-like
synonym: "G6PDL" RELATED [MONDO:Lexical, OMIM:138110]
synonym: "glucose-6-phosphate dehydrogenase-like" EXACT [MONDO:Lexical, OMIM:138110]
synonym: "glucose-6-phosphate dehydrogenase-like; G6PDL" RELATED [OMIM:138110]
xref: OMIM:138110 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:138110/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414893
property_value: exactMatch http://identifiers.org/omim/138110

[Term]
id: MONDO:0007675
name: glutamic acid decarboxylase, brain, membrane form
synonym: "glutamic acid decarboxylase, brain, membrane form" EXACT [OMIM:138277]
xref: OMIM:138277 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841911
property_value: exactMatch http://identifiers.org/omim/138277

[Term]
id: MONDO:0007676
name: glutathione transferase activity toward trans-stilbene oxide
synonym: "glutathione transferase activity toward trans-stilbene oxide" EXACT [OMIM:138340]
synonym: "trans-stilbene oxide glutathione transferase activity" RELATED [OMIM:138340]
xref: OMIM:138340 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841901
property_value: exactMatch http://identifiers.org/omim/138340

[Term]
id: MONDO:0007677
name: hyperglycinuria (disease)
synonym: "Glycinuria with or without oxalate nephrolithiasis" RELATED [OMIM:138500]
synonym: "Glycinuria with or without oxalate urolithiasis" RELATED [OMIM:138500]
synonym: "hyperglycinuria" EXACT [MONDO:ambiguous, OMIM:138500]
synonym: "Iminoglycinuria type 2" RELATED [OMIM:138500]
xref: HP:0003108 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C563009 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138500 {source="MONDO:equivalentTo"}
xref: UMLS:C0543541 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:138500"}
is_a: MONDO:0002118 {comment="https://github.com/monarch-initiative/mondo/issues/1510", comment="https://orcid.org/0000-0001-5208-3432"} ! urinary system disease
is_a: MONDO:0003847 {source="MESH:C563009/inferred", source="OMIM:138500/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563009
property_value: exactMatch http://identifiers.org/omim/138500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543541

[Term]
id: MONDO:0007678
name: glycoprotein, renal
synonym: "glycoprotein, renal" EXACT [OMIM:138710]
xref: OMIM:138710 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841864
property_value: exactMatch http://identifiers.org/omim/138710

[Term]
id: MONDO:0007679
name: GMS syndrome
def: "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." [Orphanet:2090]
subset: gard_rare {source="GARD:0002523"}
subset: ordo_malformation_syndrome {source="Orphanet:2090"}
synonym: "GMS syndrome" EXACT [OMIM:138770]
synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED [OMIM:138770]
synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090]
xref: GARD:0002523 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2090/attributed", source="ORDO:2090/ntbt", source="Orphanet:2090"}
xref: MESH:C564214 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="ORDO:2090/e"}
xref: Orphanet:2090 {source="OMIM:138770", source="MONDO:equivalentTo"}
xref: SCTID:716024001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1841854 {source="OMIM:138770", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2090"}
is_a: MONDO:0000508 {source="Orphanet:2090"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:2090"} ! syndromic developmental defect of the eye
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020218 {source="Orphanet:2090", source="linkedlifedata"} ! goniodysgenesis
property_value: exactMatch http://identifiers.org/mesh/C564214
property_value: exactMatch http://identifiers.org/omim/138770
property_value: exactMatch http://identifiers.org/snomedct/716024001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841854
property_value: exactMatch Orphanet:2090
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome xsd:anyURI {source="GARD:0002523"}

[Term]
id: MONDO:0007680
name: multinodular goiter-cystic kidney-polydactyly syndrome
def: "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." [Orphanet:2091]
subset: ordo_malformation_syndrome {source="Orphanet:2091"}
synonym: "Daneman Davy Mancer syndrome" RELATED [GARD:0001671]
synonym: "Daneman-Davy-Mancer syndrome" EXACT [Orphanet:2091]
synonym: "goiter, multinodular, cystic renal disease, and digital anomalies" RELATED [OMIM:138790]
synonym: "MNG/CRD/Da" RELATED [OMIM:138790]
synonym: "multinodular goiter - cystic kidney - polydactyly" RELATED [GARD:0001671]
synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELATED [GARD:0001671]
synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790]
synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091]
xref: GARD:0001671 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2091/attributed", source="ORDO:2091/ntbt", source="Orphanet:2091"}
xref: MESH:C535986 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138790 {source="MONDO:equivalentTo", source="ORDO:2091/e", source="Orphanet:2091"}
xref: Orphanet:2091 {source="MONDO:equivalentTo", source="OMIM:138790"}
xref: SCTID:723409007 {source="MONDO:equivalentTo"}
xref: UMLS:C1841853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2091/e", source="Orphanet:2091", source="OMIM:138790"}
is_a: MONDO:0043008 {source="Orphanet:2091"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535986
property_value: exactMatch http://identifiers.org/omim/138790
property_value: exactMatch http://identifiers.org/snomedct/723409007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841853
property_value: exactMatch Orphanet:2091

[Term]
id: MONDO:0007681
name: familial multinodular goiter
def: "An instance of multinodular goiter that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:276399"}
synonym: "euthyroid goiter" RELATED [OMIM:138800]
synonym: "familial MNG" EXACT [Orphanet:276399]
synonym: "FMNG" EXACT [Orphanet:276399]
synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" RELATED [MONDO:Lexical, OMIM:138800]
synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; MNG1" RELATED [OMIM:138800]
synonym: "goiter, nontoxic, with Intrathyroidal calcification" RELATED [OMIM:138800]
synonym: "hereditary multinodular goiter" EXACT [MONDO:patterns/hereditary]
synonym: "MNG1" RELATED [MONDO:Lexical, OMIM:138800]
synonym: "multinodular goiter, adolescent" RELATED [OMIM:138800]
synonym: "simple goiter" RELATED [OMIM:138800]
xref: COHD:141825 {source="MONDO:equivalentTo"}
xref: ICD10:E04.2 {source="Orphanet:276399", source="ORDO:276399/attributed", source="ORDO:276399/ntbt"}
xref: ICD9:240.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562732 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138800 {source="ORDO:276399/e", source="Orphanet:276399", source="MONDO:equivalentTo"}
xref: Orphanet:276399 {source="MONDO:equivalentTo", source="OMIM:138800"}
xref: SCTID:267369002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.47/0.20"}
xref: UMLS:CN202615 {source="MONDO:equivalentTo"}
is_a: MONDO:0000334 {source="DC-OMIM:138800", source="MONDO:Redundant", source="MONDOLEX:0007681", source="OMIM:138800"} ! multinodular goiter
is_a: MONDO:0015356 {source="Orphanet:276399"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0000334 ! multinodular goiter
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018022
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302859
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3165522
property_value: exactMatch http://identifiers.org/mesh/C562732
property_value: exactMatch http://identifiers.org/omim/138800
property_value: exactMatch http://identifiers.org/snomedct/267369002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202615
property_value: exactMatch Orphanet:276399

[Term]
id: MONDO:0007682
name: granddad syndrome
synonym: "granddad syndrome" EXACT [OMIM:138920]
synonym: "Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" RELATED [OMIM:138920]
xref: MESH:C564211 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138920 {source="MONDO:equivalentTo"}
xref: UMLS:C1841836 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:138920"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564211
property_value: exactMatch http://identifiers.org/omim/138920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841836

[Term]
id: MONDO:0007683
name: Grant syndrome
def: "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." [Orphanet:2097]
subset: gard_rare {source="GARD:0002559"}
subset: ordo_malformation_syndrome {source="Orphanet:2097"}
synonym: "Grant syndrome" EXACT [OMIM:138930]
synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559]
xref: GARD:0002559 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:2097/attributed", source="ORDO:2097/ntbt", source="Orphanet:2097"}
xref: MESH:C537293 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2097/e", source="Orphanet:2097"}
xref: OMIM:138930 {source="MONDO:equivalentTo", source="ORDO:2097/e", source="Orphanet:2097"}
xref: Orphanet:2097 {source="MONDO:equivalentTo", source="OMIM:138930"}
xref: SCTID:723827003 {source="MONDO:equivalentTo"}
xref: UMLS:C1841835 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:138930", source="ORDO:2097/e", source="Orphanet:2097"}
is_a: MONDO:0019704 {source="Orphanet:2097"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C537293
property_value: exactMatch http://identifiers.org/omim/138930
property_value: exactMatch http://identifiers.org/snomedct/723827003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841835
property_value: exactMatch Orphanet:2097
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome xsd:anyURI {source="GARD:0002559"}

[Term]
id: MONDO:0007684
name: granulomatous disease, chronic, autosomal dominant type
synonym: "granulomatous disease, chronic, autosomal dominant type" EXACT [OMIM:138990]
xref: DOID:0070190 {source="MONDO:equivalentTo"}
xref: MESH:C564210 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:138990 {source="MONDO:equivalentTo"}
xref: UMLS:C1841825 {source="OMIM:138990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="DC-OMIM:138990", source="MESH:C564210"} ! chronic granulomatous disease
property_value: exactMatch DOID:0070190
property_value: exactMatch http://identifiers.org/mesh/C564210
property_value: exactMatch http://identifiers.org/omim/138990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841825

[Term]
id: MONDO:0007685
name: granulosis rubra nasi
synonym: "granulosis rubra nasi" EXACT [OMIM:139000]
xref: ICD9:705.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562483 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139000 {source="MONDO:equivalentTo"}
xref: SCTID:22818000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0263471 {source="OMIM:139000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562483
property_value: exactMatch http://identifiers.org/omim/139000
property_value: exactMatch http://identifiers.org/snomedct/22818000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263471

[Term]
id: MONDO:0007686
name: gray platelet syndrome
def: "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." [Orphanet:721]
subset: gard_rare {source="GARD:0002562"}
subset: ordo_disease {source="Orphanet:721"}
synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721]
synonym: "BDPLT4" EXACT [DOID:0111044]
synonym: "bleeding disorder, Platelet-type, 4" RELATED [OMIM:139090]
synonym: "GPS" EXACT [DOID:0111044, MONDO:Lexical, OMIM:139090, Orphanet:721]
synonym: "gray platelet syndrome" EXACT [MONDO:Lexical, OMIM:139090]
synonym: "gray platelet syndrome; GPS" RELATED [OMIM:139090]
synonym: "grey platelet syndrome" EXACT [NCIT:C84741]
synonym: "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" RELATED [GARD:0002562]
synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721]
synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044]
xref: DOID:0111044 {source="MONDO:equivalentTo"}
xref: GARD:0002562 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="Orphanet:721", source="ORDO:721/inclusion", source="DOID:0111044", source="ORDO:721/ntbt"}
xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="DOID:0111044", source="MONDO:ontobio", source="ORDO:721/e"}
xref: NCIT:C84741 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="DOID:0111044", source="ORDO:721/e"}
xref: Orphanet:721 {source="MONDO:equivalentTo", source="OMIM:139090"}
xref: SCTID:51720005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0272302 {source="Orphanet:721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139090", source="DOID:0111044", source="ORDO:721/e", source="NCIT:C84741"}
xref: UMLS:C2717750 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:721", source="MONDO:equivalentTo"}
xref: UMLS:CN205641 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0007686", source="NCIT:C84741"} ! syndromic disease
is_a: MONDO:0020117 {source="Orphanet:721"} ! alpha granule disease
property_value: exactMatch DOID:0111044
property_value: exactMatch http://identifiers.org/mesh/D055652
property_value: exactMatch http://identifiers.org/omim/139090
property_value: exactMatch http://identifiers.org/snomedct/51720005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205641
property_value: exactMatch NCIT:C84741
property_value: exactMatch Orphanet:721
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome xsd:anyURI {source="GARD:0002562"}

[Term]
id: MONDO:0007687
name: graying of hair, precocious
synonym: "graying of hair, precocious" EXACT [OMIM:139100]
synonym: "White hair, premature" RELATED [OMIM:139100]
xref: MESH:C564209 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139100 {source="MONDO:equivalentTo"}
xref: UMLS:C1841809 {source="OMIM:139100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564209
property_value: exactMatch http://identifiers.org/omim/139100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841809

[Term]
id: MONDO:0007688
name: Myhre syndrome
def: "Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." [Orphanet:2588]
subset: gard_rare {source="GARD:0002572"}
subset: ordo_malformation_syndrome {source="Orphanet:2588"}
synonym: "facial dysmorphism - intellectual deficit - short stature - hearing loss" RELATED [GARD:0002572]
synonym: "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" EXACT [Orphanet:2588]
synonym: "Growth mental deficiency syndrome of Myhre" RELATED [GARD:0002572]
synonym: "Growth-mental deficiency syndrome of Myhre" RELATED [OMIM:139210]
synonym: "LAPS syndrome" RELATED [GARD:0002572]
synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" RELATED [OMIM:139210]
synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210]
synonym: "MYHRE syndrome; MYHRS" RELATED [OMIM:139210]
synonym: "MYHRS" RELATED [MONDO:Lexical, OMIM:139210]
xref: GARD:0002572 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2588", source="ORDO:2588/attributed", source="ORDO:2588/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123815 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:139210 {source="Orphanet:2588", source="ORDO:2588/e", source="MONDO:equivalentTo"}
xref: Orphanet:2588 {source="OMIM:139210", source="MONDO:equivalentTo"}
xref: SCTID:699316006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796081 {source="OMIM:139210", source="NCIT:C123815", source="Orphanet:2588", source="NCBI:mim2gene_medline", source="ORDO:2588/e", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2588", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2588"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019695 {source="Orphanet:2588"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537620
property_value: exactMatch http://identifiers.org/omim/139210
property_value: exactMatch http://identifiers.org/snomedct/699316006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796081
property_value: exactMatch NCIT:C123815
property_value: exactMatch Orphanet:2588
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome xsd:anyURI {source="GARD:0002572"}

[Term]
id: MONDO:0007689
name: guanylate kinase 3
synonym: "guanylate kinase 3" EXACT [MONDO:Lexical, OMIM:139290]
synonym: "guanylate KINASE 3; GUK3" RELATED [OMIM:139290]
synonym: "guanylate kinase type 3" EXACT [MONDORULE:1, OMIM:139290]
synonym: "GUK3" RELATED [MONDO:Lexical, OMIM:139290]
xref: OMIM:139290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841763
property_value: exactMatch http://identifiers.org/omim/139290

[Term]
id: MONDO:0007690
name: aromatase excess syndrome
def: "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." [Orphanet:178345]
subset: gard_rare {source="GARD:0012494"}
subset: ordo_disease {source="Orphanet:178345"}
synonym: "AEXS" EXACT [DOID:0090122, MONDO:Lexical, OMIM:139300, Orphanet:178345]
synonym: "aromatase activity, increased" RELATED [OMIM:139300]
synonym: "aromatase excess syndrome" EXACT [MESH:C000591739, MONDO:Lexical, OMIM:139300]
synonym: "aromatase excess syndrome; AEXS" RELATED [OMIM:139300]
synonym: "familial hyperestrogenism" EXACT [DOID:0090122, Orphanet:178345]
synonym: "gynecomastia, familial, due to increased aromatase activity" EXACT [MESH:C000591739]
synonym: "gynecomastia, hereditary" EXACT [MESH:C000591739]
synonym: "hereditary prepubertal gynecomastia" EXACT [DOID:0090122, Orphanet:178345]
synonym: "increased aromatase activity" EXACT [DOID:0090122]
xref: DOID:0090122 {source="MONDO:equivalentTo"}
xref: GARD:0012494 {source="MONDO:equivalentTo"}
xref: GARD:12949 {source="DOID:0090122"}
xref: ICD10:E30.1 {source="MONDO:subClassOf", source="DOID:0090122", source="Orphanet:178345", source="ORDO:178345/attributed", source="ORDO:178345/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C000591739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139300 {source="ORDO:178345/e", source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo"}
xref: Orphanet:178345 {source="OMIM:139300", source="DOID:0090122", source="MONDO:equivalentTo"}
xref: SCTID:709075008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.47"}
xref: UMLS:C1970109 {source="OMIM:139300", source="Orphanet:178345", source="MONDO:equivalentTo"}
is_a: MONDO:0005039 ! reproductive system disease
is_a: MONDO:0019052 {source="MESH:C000591739"} ! inborn errors of metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
relationship: disease_has_feature MONDO:0015791 {source="Orphanet:178345"} ! peripheral precocious puberty
relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:178345"} ! anomaly of puberty or/and menstrual cycle of genetic origin
relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:178345", source="https://github.com/Orphanet/ORDO/issues/19"} ! precocious puberty in female
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841762
property_value: exactMatch DOID:0090122
property_value: exactMatch http://identifiers.org/mesh/C000591739
property_value: exactMatch http://identifiers.org/omim/139300
property_value: exactMatch http://identifiers.org/snomedct/709075008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970109
property_value: exactMatch Orphanet:178345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome xsd:anyURI {source="GARD:0012494"}

[Term]
id: MONDO:0007691
name: chronic inflammatory demyelinating polyneuropathy
def: "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins." [Orphanet:2932]
comment: Editor note: check this
subset: ordo_disease {source="Orphanet:2932"}
synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [Orphanet:2932]
synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:2932]
synonym: "CIDP" EXACT [Orphanet:2932]
synonym: "Guillain-Barre syndrome, familial" RELATED [OMIM:139393]
synonym: "Guillain-Barre syndrome, familial; GBS" RELATED [OMIM:139393]
synonym: "polyneuropathy, inflammatory demyelinating, acute" RELATED [OMIM:139393]
synonym: "polyneuropathy, inflammatory demyelinating, chronic" RELATED [OMIM:139393]
xref: GARD:0006102 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G61.8 {source="ORDO:2932/ntbt", source="Orphanet:2932"}
xref: MedDRA:10057645 {source="ORDO:2932/e", source="Orphanet:2932"}
xref: OMIM:139393 {source="DOID:12842", source="MONDO:equivalentTo"}
xref: Orphanet:2932 {source="MONDO:equivalentTo"}
xref: SCTID:716723000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0016170 {source="Orphanet:2932"} ! chronic polyradiculoneuropathy
property_value: closeMatch http://identifiers.org/snomedct/155082001
property_value: closeMatch http://identifiers.org/snomedct/267707000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841700
property_value: exactMatch http://identifiers.org/meddra/10057645
property_value: exactMatch http://identifiers.org/omim/139393
property_value: exactMatch http://identifiers.org/snomedct/716723000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393819
property_value: exactMatch Orphanet:2932

[Term]
id: MONDO:0007692
name: hairy ears
synonym: "hairy ears" EXACT [OMIM:139500]
synonym: "hypertrichosis pinnae auris" RELATED [OMIM:139500]
xref: MESH:C562484 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139500 {source="MONDO:equivalentTo"}
xref: SCTID:89000008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263482
property_value: exactMatch http://identifiers.org/mesh/C562484
property_value: exactMatch http://identifiers.org/omim/139500
property_value: exactMatch http://identifiers.org/snomedct/89000008

[Term]
id: MONDO:0007693
name: hypertrichosis cubiti-short stature syndrome
def: "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." [Orphanet:2220]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2220"}
synonym: "hairy elbows" EXACT [OMIM:139600, Orphanet:2220]
synonym: "hairy elbows syndrome" EXACT [Orphanet:2220]
synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600]
synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220]
xref: GARD:0000143 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.2 {source="Orphanet:2220", source="ORDO:2220/attributed", source="ORDO:2220/ntbt"}
xref: MedDRA:10068636 {source="Orphanet:2220", source="ORDO:2220/e"}
xref: MESH:C535618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139600 {source="GARD:0000143", source="Orphanet:2220", source="MONDO:equivalentTo", source="ORDO:2220/e"}
xref: Orphanet:2220 {source="GARD:0000143", source="MONDO:equivalentTo", source="OMIM:139600"}
xref: UMLS:C1841696 {source="Orphanet:2220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139600", source="MEDGEN:kboom-pr92-c96", source="ORDO:2220/e"}
is_a: MONDO:0019280 {source="MESH:C535618", source="Orphanet:2220"} ! hypertrichosis (disease)
is_a: MONDO:0019287 {source="Orphanet:2220"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/meddra/10068636
property_value: exactMatch http://identifiers.org/mesh/C535618
property_value: exactMatch http://identifiers.org/omim/139600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841696
property_value: exactMatch Orphanet:2220

[Term]
id: MONDO:0007694
name: hairy nose tip
subset: gard_rare {source="GARD:0008465"}
synonym: "hairy nose tip" EXACT [OMIM:139630]
synonym: "HNT" RELATED [GARD:0008465]
xref: GARD:0008465 {source="MONDO:equivalentTo"}
xref: MESH:C535619 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139630 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841695
property_value: exactMatch http://identifiers.org/mesh/C535619
property_value: exactMatch http://identifiers.org/omim/139630
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip xsd:anyURI {source="GARD:0008465"}

[Term]
id: MONDO:0007695
name: hairy palms and soles
subset: gard_rare {source="GARD:0008461"}
synonym: "circumscribed hairy Dysembryoplasia of palms" RELATED [OMIM:139650]
synonym: "hairy cutaneous malformations of palms and soles" RELATED [GARD:0008461]
synonym: "hairy palms and soles" EXACT [OMIM:139650]
synonym: "thickened hair-bearing skin on the palms of both hands" RELATED [GARD:0008461]
xref: GARD:0008461 {source="MONDO:equivalentTo"}
xref: MESH:C535620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139650 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841694
property_value: exactMatch http://identifiers.org/mesh/C535620
property_value: exactMatch http://identifiers.org/omim/139650
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles xsd:anyURI {source="GARD:0008461"}

[Term]
id: MONDO:0007696
name: Emery-Nelson syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1927"}
synonym: "familial syndrome of short stature, deformities of the hands and feet, and unusual facies" RELATED [GARD:0002593]
synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593]
synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750]
synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927]
xref: GARD:0002593 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1927/attributed", source="ORDO:1927/ntbt", source="Orphanet:1927"}
xref: MESH:C535626 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:139750 {source="MONDO:equivalentTo", source="Orphanet:1927", source="ORDO:1927/e"}
xref: Orphanet:1927 {source="OMIM:139750", source="MONDO:equivalentTo"}
xref: UMLS:C1841693 {source="OMIM:139750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1927", source="ORDO:1927/e"}
is_a: MONDO:0015226 {source="Orphanet:1927"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535626
property_value: exactMatch http://identifiers.org/omim/139750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841693
property_value: exactMatch Orphanet:1927

[Term]
id: MONDO:0007697
name: hand clasping pattern
synonym: "hand clasping pattern" EXACT [OMIM:139800]
xref: OMIM:139800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841692
property_value: exactMatch http://identifiers.org/omim/139800

[Term]
id: MONDO:0007698
name: hand-foot-genital syndrome
def: "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." [Orphanet:2438]
subset: ordo_malformation_syndrome {source="Orphanet:2438"}
synonym: "hand foot genital syndrome" RELATED [GARD:0002594]
synonym: "hand foot uterus syndrome" RELATED [GARD:0002594]
synonym: "hand-foot-genital syndrome" EXACT [MONDO:Lexical, OMIM:140000]
synonym: "hand-foot-genital syndrome; HFG" RELATED [OMIM:140000]
synonym: "hand-foot-uterus syndrome" EXACT [DOID:0060739, OMIM:140000, Orphanet:2438]
synonym: "HFG" RELATED [MONDO:Lexical, OMIM:140000]
synonym: "HFG syndrome" RELATED [GARD:0002594]
synonym: "HFGS" EXACT [DOID:0060739, Orphanet:2438]
synonym: "HFU syndrome" RELATED [GARD:0002594]
xref: DOID:0060739 {source="MONDO:equivalentTo"}
xref: GARD:0002594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q51.2 {source="ORDO:2438/attributed", source="ORDO:2438/ntbt", source="Orphanet:2438", source="DOID:0060739"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10072361 {source="Orphanet:2438", source="ORDO:2438/e"}
xref: MESH:C535627 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140000 {source="MONDO:equivalentTo", source="Orphanet:2438", source="ORDO:2438/e", source="DOID:0060739"}
xref: Orphanet:2438 {source="MONDO:equivalentTo", source="OMIM:140000", source="DOID:0060739"}
xref: SCTID:702425002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1841679 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2438", source="ORDO:2438/e", source="OMIM:140000"}
is_a: MONDO:0000426 {source="DOID:0060739", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015846 {source="Orphanet:2438"} ! syndromic uterovaginal malformation
is_a: MONDO:0019066 {source="Orphanet:2438", source="Orphanet:2438/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2438"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060739
property_value: exactMatch http://identifiers.org/meddra/10072361
property_value: exactMatch http://identifiers.org/mesh/C535627
property_value: exactMatch http://identifiers.org/omim/140000
property_value: exactMatch http://identifiers.org/snomedct/702425002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841679
property_value: exactMatch Orphanet:2438

[Term]
id: MONDO:0007699
name: Hashimoto thyroiditis
def: "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." [NCIT:C27191]
synonym: "autoimmune thyroiditis" RELATED [DOID:7188]
synonym: "chronic lymphocytic thyroiditides" RELATED [MESH:D050031]
synonym: "chronic lymphocytic thyroiditis" EXACT [DOID:7188]
synonym: "disease, Hashimoto" RELATED [MESH:D050031]
synonym: "disease, Hashimoto's" RELATED [MESH:D050031]
synonym: "Hashimoto disease" EXACT [NCIT:C27191]
synonym: "Hashimoto struma" RELATED [MESH:D050031, OMIM:140300]
synonym: "Hashimoto syndrome" RELATED [MESH:D050031]
synonym: "Hashimoto thyroiditides" RELATED [MESH:D050031]
synonym: "Hashimoto thyroiditis" EXACT [DOID:7188, MESH:D050031, OMIM:140300]
synonym: "Hashimoto's disease" EXACT [DOID:7188, MESH:D050031]
synonym: "Hashimoto's struma" RELATED [MESH:D050031]
synonym: "Hashimoto's syndrome" EXACT [DOID:7188, MESH:D050031]
synonym: "Hashimoto's syndromes" RELATED [MESH:D050031]
synonym: "Hashimoto's thyroiditis" EXACT [DOID:7188, MONDO:0005268]
synonym: "Hashimotos disease" RELATED [MESH:D050031]
synonym: "Hashimotos syndrome" RELATED [MESH:D050031]
synonym: "HT" RELATED [MESH:D050031]
synonym: "Ht" RELATED [OMIM:140300]
synonym: "hypothyroidism, autoimmune" RELATED [OMIM:140300]
synonym: "hypothyroidism, autoimmune thyroid autoantibodies, included" RELATED [MESH:D050031]
synonym: "lymphocytic thyroiditides, chronic" RELATED [MESH:D050031]
synonym: "lymphocytic thyroiditis" EXACT [DOID:7188, NCIT:C38766]
synonym: "lymphocytic thyroiditis, chronic" RELATED [MESH:D050031]
synonym: "syndrome, Hashimoto's" RELATED [MESH:D050031]
synonym: "syndromes, Hashimoto's" RELATED [MESH:D050031]
synonym: "thyroid autoantibodies" RELATED [OMIM:140300]
synonym: "thyroiditides, chronic lymphocytic" RELATED [MESH:D050031]
synonym: "thyroiditides, Hashimoto" RELATED [MESH:D050031]
synonym: "thyroiditis, chronic lymphocytic" RELATED [MESH:D050031]
synonym: "thyroiditis, Hashimoto" RELATED [MESH:D050031]
xref: COHD:135215 {source="MONDO:equivalentTo"}
xref: DOID:7188 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: EFO:0003779 {source="MONDO:equivalentTo"}
xref: ICD10:E06.3 {source="MONDO:equivalentTo", source="DOID:7188"}
xref: ICD9:245.2 {source="EFO:0003779"}
xref: MESH:D050031 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: NCIT:C27191 {source="MONDO:kboom-pr-0.91/0.76/0.60", source="MONDO:equivalentTo", source="EFO:0003779"}
xref: OMIM:140300 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: UMLS:C0677607 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C27191", source="OMIM:140300"}
xref: Wikipedia:Hashimoto's_thyroiditis {source="EFO:0003779"}
is_a: MONDO:0005623 {source="EFO:0003779", source="MESH:D050031", source="MONDOLEX:0007699"} ! autoimmune thyroid disease
property_value: closeMatch http://identifiers.org/snomedct/190297000
property_value: closeMatch http://identifiers.org/snomedct/21983002
property_value: closeMatch http://identifiers.org/snomedct/66944004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700384
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0920350
property_value: closeMatch NCIT:C38766
property_value: closeMatch Orphanet:855
property_value: exactMatch DOID:7188
property_value: exactMatch http://identifiers.org/mesh/D050031
property_value: exactMatch http://identifiers.org/omim/140300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677607
property_value: exactMatch NCIT:C27191

[Term]
id: MONDO:0007700
name: hawkinsinuria
def: "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." [Orphanet:2118]
subset: gard_rare {source="GARD:0005668"}
subset: ordo_disease {source="Orphanet:2118"}
synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [Orphanet:2118]
synonym: "4-HPPD deficiency" EXACT [Orphanet:2118]
synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:2118]
synonym: "hawkinsinuria" EXACT [OMIM:140350]
xref: GARD:0005668 {source="MONDO:equivalentTo"}
xref: ICD10:E70.2 {source="ORDO:2118/attributed", source="ORDO:2118/ntbt", source="Orphanet:2118"}
xref: MESH:C535845 {source="MONDO:equivalentTo", source="ORDO:2118/e", source="Orphanet:2118", source="MONDO:ontobio"}
xref: OMIM:140350 {source="MONDO:equivalentTo", source="ORDO:2118/e", source="Orphanet:2118"}
xref: Orphanet:2118 {source="MONDO:equivalentTo", source="OMIM:140350"}
xref: SCTID:414380008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2931042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2118/e", source="OMIM:140350", source="Orphanet:2118"}
is_a: MONDO:0017307 {source="Orphanet:2118", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder of tyrosine metabolism
property_value: exactMatch http://identifiers.org/mesh/C535845
property_value: exactMatch http://identifiers.org/omim/140350
property_value: exactMatch http://identifiers.org/snomedct/414380008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931042
property_value: exactMatch Orphanet:2118
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria xsd:anyURI {source="GARD:0005668"}

[Term]
id: MONDO:0007701
name: progressive familial heart block type II
subset: gard_rare {source="GARD:0004879"}
synonym: "heart block progressive familial type 2" RELATED [GARD:0004879]
synonym: "PFHB2" EXACT [DOID:0111075, MONDO:Lexical, OMIM:140400]
synonym: "PFHBII" RELATED [OMIM:140400]
synonym: "progressive familial heart block type 2" RELATED [GARD:0004879]
synonym: "progressive familial heart block, type II" RELATED [MONDO:Lexical, OMIM:140400]
synonym: "progressive familial heart block, type II; PFHB2" RELATED [OMIM:140400]
xref: DOID:0111075 {source="MONDO:equivalentTo"}
xref: GARD:0004879 {source="MONDO:equivalentTo"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564202 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140400 {source="MONDO:equivalentTo", source="DOID:0111075"}
xref: SCTID:698251009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019490 {source="DC-OMIM:140400", source="DOID:0111075", source="OMIM:140400", source="linkedlifedata"} ! progressive familial heart block
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841658
property_value: exactMatch DOID:0111075
property_value: exactMatch http://identifiers.org/mesh/C564202
property_value: exactMatch http://identifiers.org/omim/140400
property_value: exactMatch http://identifiers.org/snomedct/698251009
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2 xsd:anyURI {source="GARD:0004879"}

[Term]
id: MONDO:0007702
name: heart-hand syndrome type 3
def: "Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." [Orphanet:1342]
subset: ordo_malformation_syndrome {source="Orphanet:1342"}
synonym: "atriodigital dysplasia type 3" EXACT [Orphanet:1342]
synonym: "brachydactyly and intraventricular conduction defect" RELATED [GARD:0002614]
synonym: "Cardiomelic syndrome type 3" EXACT [Orphanet:1342]
synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342]
synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342]
synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614]
xref: GARD:0002614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1342", source="ORDO:1342/attributed", source="ORDO:1342/ntbt"}
xref: MESH:C535853 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140450 {source="ORDO:1342/e", source="Orphanet:1342", source="MONDO:equivalentTo"}
xref: Orphanet:1342 {source="MONDO:equivalentTo", source="OMIM:140450"}
xref: SCTID:721013001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1841657 {source="ORDO:1342/e", source="Orphanet:1342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140450"}
is_a: MONDO:0007732 {source="DC-OMIM:140450", source="MONDOLEX:0007702"} ! Holt-Oram syndrome
property_value: exactMatch http://identifiers.org/mesh/C535853
property_value: exactMatch http://identifiers.org/omim/140450
property_value: exactMatch http://identifiers.org/snomedct/721013001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841657
property_value: exactMatch Orphanet:1342

[Term]
id: MONDO:0007703
name: obsolete heart, malformation of
is_obsolete: true
replaced_by: MONDO:0009327

[Term]
id: MONDO:0007704
name: osteoarthritis susceptibility 2
subset: predisposition
synonym: "Dipoa" RELATED [OMIM:140600]
synonym: "hand osteoarthritis" RELATED [OMIM:140600]
synonym: "Heberden nodes" RELATED [OMIM:140600]
synonym: "MATN3 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OADIP" RELATED [OMIM:140600]
synonym: "OS2" RELATED [MONDO:Lexical, OMIM:140600]
synonym: "osteoarthritis caused by mutation in MATN3" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of distal interphalangeal joints" RELATED [OMIM:140600]
synonym: "osteoarthritis susceptibility 2" EXACT [MONDO:Lexical, OMIM:140600]
synonym: "osteoarthritis susceptibility 2; OS2" RELATED [OMIM:140600]
synonym: "osteoarthritis susceptibility type 2" EXACT [MONDORULE:1, OMIM:140600]
xref: OMIM:140600 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005178 ! osteoarthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018862
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409957
property_value: exactMatch http://identifiers.org/omim/140600

[Term]
id: MONDO:0007705
name: Heinz body anemia
subset: ordo_disease {source="Orphanet:178330"}
synonym: "Heinz body anemias" RELATED [OMIM:140700]
xref: GARD:0010718 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0005511 {source="MONDO:otherHierarchy"}
xref: ICD10:D58.2 {source="Orphanet:178330", source="ORDO:178330/attributed", source="ORDO:178330/ntbt"}
xref: MedDRA:10002058 {source="Orphanet:178330", source="ORDO:178330/e"}
xref: MESH:C563030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140700 {source="Orphanet:178330", source="MONDO:equivalentTo", source="ORDO:178330/e"}
xref: Orphanet:178330 {source="OMIM:140700", source="MONDO:equivalentTo"}
xref: UMLS:C0700299 {source="OMIM:140700", source="Orphanet:178330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:178330/e"}
is_a: MONDO:0003664 {source="Orphanet:178330"} ! hemolytic anemia
property_value: exactMatch http://identifiers.org/meddra/10002058
property_value: exactMatch http://identifiers.org/mesh/C563030
property_value: exactMatch http://identifiers.org/omim/140700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700299
property_value: exactMatch Orphanet:178330

[Term]
id: MONDO:0007706
name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2124"}
synonym: "hemangiomas cavernous of face supraumbilical midline raphe" RELATED [GARD:0008524]
synonym: "hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe" RELATED [OMIM:140850]
synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELATED [OMIM:140850]
synonym: "sternal nonunion with supraumbilical raphe" RELATED [OMIM:140850]
synonym: "supraumbilical midabdominal raphe and facial cavernous hemangiomas" RELATED [GARD:0008524]
xref: GARD:0008524 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D18.0 {source="Orphanet:2124", source="ORDO:2124/attributed", source="ORDO:2124/ntbt"}
xref: MESH:C538144 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140850 {source="Orphanet:2124", source="ORDO:2124/e", source="MONDO:equivalentTo"}
xref: Orphanet:2124 {source="MONDO:equivalentTo", source="OMIM:140850"}
xref: SCTID:234140000 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
xref: UMLS:C0472694 {source="Orphanet:2124", source="ORDO:2124/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140850"}
is_a: MONDO:0015331 {source="Orphanet:2124"} ! malformation syndrome with skin/mucosae involvement
property_value: exactMatch http://identifiers.org/mesh/C538144
property_value: exactMatch http://identifiers.org/omim/140850
property_value: exactMatch http://identifiers.org/snomedct/234140000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472694
property_value: exactMatch Orphanet:2124

[Term]
id: MONDO:0007707
name: hemangiomas of small intestine
def: "A hemangioma that involves the small intestine." [MONDO:patterns/location]
synonym: "hemangioma of small intestine" EXACT []
synonym: "hemangiomas of small intestine" EXACT [OMIM:140900]
synonym: "small intestine hemangioma" EXACT [MONDO:patterns/location]
xref: MESH:C564201 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:140900 {source="MONDO:equivalentTo"}
xref: UMLS:C1841654 {source="OMIM:140900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 ! hemangioma
is_a: MONDO:0021501 ! benign neoplasm of small intestine
property_value: exactMatch http://identifiers.org/mesh/C564201
property_value: exactMatch http://identifiers.org/omim/140900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841654

[Term]
id: MONDO:0007708
name: Kasabach-Merritt syndrome
def: "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma." [Orphanet:2330]
subset: gard_rare
subset: ordo_clinical_situation {source="Orphanet:2330"}
synonym: "hemangioma thrombocytopenia syndrome" RELATED [GARD:0000070]
synonym: "hemangioma-hemorrhage syndrome" EXACT [NCIT:C3821]
synonym: "hemangioma-thrombocytopenia syndrome" EXACT [OMIM:141000, Orphanet:2330]
synonym: "hemangiomatosis with thrombocytopenia" EXACT [NCIT:C3821]
synonym: "Kasabach Merritt phenomenon" RELATED [GARD:0000070]
synonym: "Kasabach Merritt syndrome" RELATED [GARD:0000070]
synonym: "Kasabach-Merritt syndrome" EXACT [OMIM:141000]
synonym: "KMP" RELATED [GARD:0000070]
synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821]
synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821]
xref: GARD:0000070 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="Orphanet:2330", source="ORDO:2330/ntbt"}
xref: ICD9:287.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058423 {source="Orphanet:2330", source="ORDO:2330/e"}
xref: MESH:D059885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3821 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: OMIM:141000 {source="Orphanet:2330", source="MONDO:equivalentTo", source="GARD:0000070", source="ORDO:2330/e"}
xref: Orphanet:2330 {source="MONDO:equivalentTo", source="OMIM:141000", source="GARD:0000070"}
xref: SCTID:86635005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0221025 {source="Orphanet:2330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141000", source="GARD:0000070", source="NCIT:C3821", source="ORDO:2330/e"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0016631 {source="Orphanet:2330"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: exactMatch http://identifiers.org/meddra/10058423
property_value: exactMatch http://identifiers.org/mesh/D059885
property_value: exactMatch http://identifiers.org/omim/141000
property_value: exactMatch http://identifiers.org/snomedct/86635005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221025
property_value: exactMatch NCIT:C3821
property_value: exactMatch Orphanet:2330

[Term]
id: MONDO:0007709
name: hematuria, benign familial
synonym: "BFH" RELATED [MONDO:Lexical, OMIM:141200]
synonym: "hematuria, benign familial" EXACT [MONDO:Lexical, OMIM:141200]
synonym: "hematuria, benign familial; BFH" RELATED [OMIM:141200]
synonym: "thin membrane nephropathy" RELATED [OMIM:141200]
synonym: "thin-basement-membrane nephropathy" RELATED [OMIM:141200]
xref: MESH:C562476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:141200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241908
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403440
property_value: closeMatch Orphanet:97562
property_value: exactMatch http://identifiers.org/mesh/C562476
property_value: exactMatch http://identifiers.org/omim/141200

[Term]
id: MONDO:0007710
name: facial hemiatrophy
def: "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." [Orphanet:1214]
subset: ordo_disease {source="Orphanet:1214"}
synonym: "hemifacial atrophy" EXACT [Orphanet:1214]
synonym: "hemifacial atrophy, progressive" RELATED [MONDO:Lexical, OMIM:141300]
synonym: "hemifacial atrophy, progressive; HFA" RELATED [OMIM:141300]
synonym: "HFA" RELATED [MONDO:Lexical, OMIM:141300]
synonym: "parry-Romberg syndrome" EXACT [DOID:1757, OMIM:141300, Orphanet:1214]
synonym: "PHA" RELATED [Orphanet:1214]
synonym: "progressive facial hemiatrophy" EXACT [Orphanet:1214]
synonym: "progressive hemifacial atrophy" EXACT [NCIT:C116916]
synonym: "Romberg hemi-facial atrophy" RELATED [GARD:0007338]
synonym: "Romberg syndrome" EXACT [Orphanet:1214]
xref: DOID:1757 {source="MONDO:equivalentTo"}
xref: GARD:0007338 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G51.8 {source="ORDO:1214/ntbt", source="Orphanet:1214"}
xref: MESH:D005150 {source="MONDO:equivalentTo", source="DOID:1757", source="MONDO:ontobio"}
xref: NCIT:C116916 {source="MONDO:kboom-pr-1.00/0.91/26.21", source="MONDO:equivalentTo", source="DOID:1757"}
xref: OMIM:141300 {source="ORDO:1214/e", source="MONDO:equivalentTo", source="Orphanet:1214", source="DOID:1757"}
xref: Orphanet:1214 {source="MONDO:equivalentTo", source="OMIM:141300"}
xref: SCTID:718224004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.35/0.08"}
xref: UMLS:C0015458 {source="NCIT:C116916", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1214", source="DOID:1757", source="OMIM:141300"}
is_a: MONDO:0002098 {source="DOID:1757", source="MESH:D005150"} ! facial nerve disease
is_a: MONDO:0002254 {source="MONDOLEX:0007710", source="NCIT:C116916"} ! syndromic disease
is_a: MONDO:0015144 {source="Orphanet:1214"} ! brain inflammatory disease
is_a: MONDO:0015657 {source="Orphanet:1214"} ! inflammatory and autoimmune disease with epilepsy
property_value: closeMatch http://identifiers.org/snomedct/29868009
property_value: closeMatch http://identifiers.org/snomedct/95834000
property_value: exactMatch DOID:1757
property_value: exactMatch http://identifiers.org/mesh/D005150
property_value: exactMatch http://identifiers.org/omim/141300
property_value: exactMatch http://identifiers.org/snomedct/718224004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015458
property_value: exactMatch NCIT:C116916
property_value: exactMatch NCIT:C84703
property_value: exactMatch Orphanet:1214

[Term]
id: MONDO:0007711
name: Bencze syndrome
def: "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." [Orphanet:1241]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1241"}
synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350]
synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633]
synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350]
synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241]
xref: GARD:0002633 {source="MONDO:equivalentTo"}
xref: ICD10:Q67.4 {source="Orphanet:1241", source="ORDO:1241/attributed", source="ORDO:1241/ntbt"}
xref: MESH:C564199 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="ORDO:1241/e"}
xref: Orphanet:1241 {source="GARD:0002633", source="MONDO:equivalentTo", source="OMIM:141350"}
xref: SCTID:733046006 {source="MONDO:equivalentTo"}
xref: UMLS:C1841640 {source="Orphanet:1241", source="GARD:0002633", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141350", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0007711"} ! syndromic disease
is_a: MONDO:0015335 {source="Orphanet:1241"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:1241"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564199
property_value: exactMatch http://identifiers.org/omim/141350
property_value: exactMatch http://identifiers.org/snomedct/733046006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841640
property_value: exactMatch Orphanet:1241
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus xsd:anyURI {source="GARD:0002633"}

[Term]
id: MONDO:0007712
name: oculoauriculovertebral spectrum with radial defects
def: "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." [Orphanet:2549]
subset: ordo_malformation_syndrome {source="Orphanet:2549"}
synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [OMIM:141400]
synonym: "hemifacial microsomia with radial defects" RELATED [OMIM:141400]
synonym: "hemifacial microsomia-radial defects syndrome" EXACT [Orphanet:2549]
synonym: "microsomia hemifacial radial defects" RELATED [GARD:0003653]
synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653]
synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549]
synonym: "Oavs with radial defect" RELATED [OMIM:141400]
synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400]
xref: GARD:0003653 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:2549/attributed", source="ORDO:2549/ntbt", source="Orphanet:2549"}
xref: OMIM:141400 {source="MONDO:equivalentTo", source="ORDO:2549/e", source="Orphanet:2549"}
xref: Orphanet:2549 {source="MONDO:equivalentTo", source="OMIM:141400"}
xref: SCTID:726722009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015334 {source="Orphanet:2549"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0019710 {source="Orphanet:2549"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2549"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/omim/141400
property_value: exactMatch http://identifiers.org/snomedct/726722009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220681
property_value: exactMatch Orphanet:2549

[Term]
id: MONDO:0007713
name: clonic hemifacial spasm
subset: ordo_disease {source="Orphanet:221083"}
synonym: "facial hemispasm" EXACT [Orphanet:221083]
synonym: "focal myoclonus of face" EXACT [Orphanet:221083]
synonym: "hemifacial spasm" RELATED [Orphanet:221083]
synonym: "hemifacial spasm, familial" RELATED [OMIM:141405]
xref: COHD:4160055 {source="MONDO:equivalentTo"}
xref: ICD10:G51.3 {source="MONDO:equivalentTo", source="ORDO:221083/e", source="Orphanet:221083"}
xref: MESH:C564198 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:141405 {source="MONDO:equivalentTo", source="ORDO:221083/e", source="Orphanet:221083"}
xref: Orphanet:221083 {source="OMIM:141405", source="MONDO:equivalentTo"}
xref: UMLS:C1841639 {source="OMIM:141405", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C3536936 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016375 {source="Orphanet:221083"} ! acquired peripheral movement disorder
property_value: exactMatch http://identifiers.org/mesh/C564198
property_value: exactMatch http://identifiers.org/omim/141405
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536936
property_value: exactMatch Orphanet:221083

[Term]
id: MONDO:0007714
name: obsolete migraine, familial hemiplegic, 1
is_obsolete: true
consider: MONDO:0000700
consider: MONDO:0020756

[Term]
id: MONDO:0007715
name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites
synonym: "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" EXACT [OMIM:141700]
xref: MESH:C564197 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:141700 {source="MONDO:equivalentTo"}
xref: UMLS:C1841622 {source="OMIM:141700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564197
property_value: exactMatch http://identifiers.org/omim/141700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841622

[Term]
id: MONDO:0007716
name: alpha thalassemia-intellectual disability syndrome type 1
def: "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." [Orphanet:98791]
subset: ordo_disease {source="Orphanet:98791"}
synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [Orphanet:98791]
synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029]
synonym: "Alpha thalassemia-mental retardation syndrome" EXACT [Orphanet:98791]
synonym: "alpha thalassemia-retardation syndrome" EXACT [DOID:0110029]
synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [DOID:0110029]
synonym: "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" EXACT [MONDORULE:2, Orphanet:98791]
synonym: "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related" RELATED [OMIM:141750]
synonym: "Alpha-thalassemia/mental retardation syndrome, deletion-type" RELATED [OMIM:141750]
synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT [DOID:0110029]
synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT [DOID:0110029]
synonym: "ATR syndrome linked to chromosome 16" EXACT [DOID:0110029, Orphanet:98791]
synonym: "ATR syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791]
synonym: "ATR, deletion-type" RELATED [OMIM:141750]
synonym: "ATR-16 syndrome" EXACT [DOID:0110029, OMIM:141750, Orphanet:98791]
synonym: "chromosome 16P deletion syndrome" RELATED [OMIM:141750]
synonym: "Hemoglobin H-related mental retardation" RELATED [OMIM:141750]
synonym: "mental retardation with Hemoglobin H" RELATED [OMIM:141750]
xref: DOID:0110029 {source="MONDO:equivalentTo"}
xref: ICD10:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="ORDO:98791/attributed", source="ORDO:98791/ntbt", source="Orphanet:98791"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563050 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:141750 {source="DOID:0110029", source="MONDO:equivalentTo", source="ORDO:98791/e", source="Orphanet:98791"}
xref: Orphanet:98791 {source="DOID:0110029", source="MONDO:equivalentTo", source="OMIM:141750"}
xref: SCTID:277918006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0475813 {source="MONDO:equivalentTo", source="ORDO:98791/e", source="MEDGEN:kboom-pr95-c96", source="Orphanet:98791"}
xref: UMLS:C0795917 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141750", source="MEDGEN:kboom-pr92-c96", source="Orphanet:98791"}
is_a: MONDO:0000508 {source="Orphanet:98791"} ! syndromic intellectual disability
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016513 {source="Orphanet:98791"} ! alpha-thalassemia-related diseases
is_a: MONDO:0016894 {source="Orphanet:98791"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019050 ! inherited hemoglobinopathy
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0110029
property_value: exactMatch http://identifiers.org/mesh/C563050
property_value: exactMatch http://identifiers.org/omim/141750
property_value: exactMatch http://identifiers.org/snomedct/277918006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795917
property_value: exactMatch Orphanet:98791

[Term]
id: MONDO:0007717
name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain
synonym: "HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain" RELATED [OMIM:142309]
xref: OMIM:142309 {source="MONDO:equivalentTo"}
xref: UMLS:C1840647 {source="NCBI:mim2gene_medline", source="OMIM:142309", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/142309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840647

[Term]
id: MONDO:0007718
name: hepatic adenomas, familial
synonym: "hepatic adenomas, familial" EXACT [OMIM:142330]
synonym: "liver cell adenomas, familial" RELATED [OMIM:142330]
xref: MESH:C564190 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142330 {source="MONDO:equivalentTo"}
xref: UMLS:C1840646 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142330"}
is_a: MONDO:0018902 {source="MONDOLEX:0007718"} ! hepatocellular adenoma
property_value: exactMatch http://identifiers.org/mesh/C564190
property_value: exactMatch http://identifiers.org/omim/142330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840646

[Term]
id: MONDO:0007719
name: diaphragmatic hernia, congenital 1
subset: prototype_pattern
synonym: "diaphragm, complete agenesis of" RELATED [OMIM:142340]
synonym: "diaphragm, unilateral agenesis of" RELATED [OMIM:142340]
synonym: "diaphragmatic defect, congenital" RELATED [OMIM:142340]
synonym: "diaphragmatic hernia 1" RELATED [OMIM:142340]
synonym: "diaphragmatic hernia, congenital" RELATED [OMIM:142340]
synonym: "DIH1" RELATED []
synonym: "hemidiaphragm, agenesis of" RELATED [OMIM:142340]
synonym: "hernia, congenital diaphragmatic" RELATED [OMIM:142340]
xref: OMIM:142340 {source="MONDO:equivalentTo"}
is_a: MONDO:0005711 {source="DC-OMIM:142340"} ! congenital diaphragmatic hernia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840643
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840644
property_value: exactMatch http://identifiers.org/omim/142340

[Term]
id: MONDO:0007720
name: hernia, double inguinal
synonym: "hernia, double inguinal" EXACT [OMIM:142350]
xref: MESH:C563164 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142350 {source="MONDO:equivalentTo"}
xref: UMLS:C0860251 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142350"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563164
property_value: exactMatch http://identifiers.org/omim/142350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860251

[Term]
id: MONDO:0007721
name: hiatus hernia (disease)
def: "Herniation of the upper part of the stomach through the diaphragm." [NCIT:P378]
synonym: "diaphragmatic - hiatus -hernia" EXACT [DOID:12642]
synonym: "hernia, hiatus" RELATED [OMIM:142400]
synonym: "hiatal hernia" EXACT [DOID:12642, OMIM:142400]
synonym: "hiatus hernia" EXACT [MONDO:ambiguous]
xref: DOID:12642 {source="MONDO:equivalentTo"}
xref: HP:0002036 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K44 {source="DOID:12642"}
xref: MESH:D006551 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12642"}
xref: NCIT:C98945 {source="MONDO:equivalentTo", source="DOID:12642", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:142400 {source="MONDO:equivalentTo", source="DOID:12642"}
xref: SCTID:84089009 {source="MONDO:equivalentTo", source="DOID:12642", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004298 {source="DOID:12642", source="linkedlifedata"} ! stomach disease
property_value: closeMatch http://identifiers.org/snomedct/155748004
property_value: closeMatch http://identifiers.org/snomedct/196901006
property_value: closeMatch http://identifiers.org/snomedct/196910003
property_value: closeMatch http://identifiers.org/snomedct/196914007
property_value: closeMatch http://identifiers.org/snomedct/236053002
property_value: closeMatch http://identifiers.org/snomedct/266511003
property_value: closeMatch http://identifiers.org/snomedct/309811003
property_value: closeMatch http://identifiers.org/snomedct/3662000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267725
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0376710
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489393
property_value: exactMatch DOID:12642
property_value: exactMatch http://identifiers.org/mesh/D006551
property_value: exactMatch http://identifiers.org/omim/142400
property_value: exactMatch http://identifiers.org/snomedct/84089009
property_value: exactMatch NCIT:C98945

[Term]
id: MONDO:0007722
name: heterochromia iridis (disease)
synonym: "heterochromia iridis" EXACT [MONDO:ambiguous, OMIM:142500]
xref: HP:0001100 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C538115 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142500 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423318
property_value: exactMatch http://identifiers.org/mesh/C538115
property_value: exactMatch http://identifiers.org/omim/142500

[Term]
id: MONDO:0007723
name: Hirschsprung disease, susceptibility to, 1
def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "aganglionic megacolon" RELATED [OMIM:142623]
synonym: "Hirschsprung disease" RELATED [OMIM:142623]
synonym: "Hirschsprung disease caused by mutation in RET" EXACT []
synonym: "Hirschsprung disease caused by mutation in ret" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease, protection against" RELATED [OMIM:142623]
synonym: "Hirschsprung disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:142623]
synonym: "Hirschsprung disease, susceptibility to, 1; HSCR1" RELATED [OMIM:142623]
synonym: "Hirschsprung disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:142623]
synonym: "HSCR1" RELATED [MONDO:Lexical, OMIM:142623]
synonym: "megacolon, aganglionic" RELATED [OMIM:142623]
synonym: "RET Hirschsprung disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ret Hirschsprung disease" EXACT [MONDO:design_pattern]
synonym: "susceptibility to Hirschsprung disease 1" RELATED [OMIM:142623]
xref: OMIM:142623 {source="MONDO:equivalentTo"}
xref: UMLS:C2931876 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142623"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018309 {source="DC-OMIM:142623", source="MONDO:Redundant", source="MONDOLEX:0007723", source="OMIM:142623"} ! Hirschsprung disease
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: exactMatch http://identifiers.org/omim/142623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931876

[Term]
id: MONDO:0007724
name: hirsutism-skeletal dysplasia-intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2156"}
synonym: "hirsutism skeletal dysplasia mental retardation syndrome" RELATED [GARD:0005566]
synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED [OMIM:142625]
synonym: "Wiedemann Oldigs Oppermann syndrome" RELATED [GARD:0005566]
synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [Orphanet:2156]
xref: GARD:0005566 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2156", source="ORDO:2156/attributed", source="ORDO:2156/ntbt"}
xref: MESH:C536705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142625 {source="ORDO:2156/e", source="Orphanet:2156", source="MONDO:equivalentTo"}
xref: Orphanet:2156 {source="OMIM:142625", source="MONDO:equivalentTo"}
xref: UMLS:C0795976 {source="ORDO:2156/e", source="Orphanet:2156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2156", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2156"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149452
property_value: exactMatch http://identifiers.org/mesh/C536705
property_value: exactMatch http://identifiers.org/omim/142625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795976
property_value: exactMatch Orphanet:2156

[Term]
id: MONDO:0007725
name: hereditary progressive mucinous histiocytosis
def: "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." [Orphanet:158025]
subset: ordo_disease {source="Orphanet:158025"}
synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630]
xref: ICD10:D76.3 {source="Orphanet:158025", source="ORDO:158025/ntbt"}
xref: MESH:C564186 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142630 {source="Orphanet:158025", source="ORDO:158025/e", source="MONDO:equivalentTo"}
xref: Orphanet:158025 {source="MONDO:equivalentTo", source="OMIM:142630"}
xref: UMLS:C1840586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142630"}
is_a: MONDO:0015531 {source="Orphanet:158025"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/mesh/C564186
property_value: exactMatch http://identifiers.org/omim/142630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840586
property_value: exactMatch Orphanet:158025

[Term]
id: MONDO:0007726
name: hip dysplasia, Beukes type
def: "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." [Orphanet:2114]
subset: ordo_disease {source="Orphanet:2114"}
synonym: "Beukes familial hip dysplasia" EXACT [OMIM:142669, Orphanet:2114]
synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical, OMIM:142669]
synonym: "Beukes hip dysplasia; BHD" RELATED [OMIM:142669]
synonym: "BFHD" EXACT [Orphanet:2114]
synonym: "BHD" RELATED [MONDO:Lexical, OMIM:142669]
synonym: "Cilliers-Beighton syndrome" EXACT [Orphanet:2114]
synonym: "hip dysplasia Beukes type" RELATED [GARD:0002690]
synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669]
synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669]
synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114]
xref: GARD:0002690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q65.8 {source="Orphanet:2114", source="ORDO:2114/attributed", source="ORDO:2114/ntbt"}
xref: MESH:C564185 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142669 {source="ORDO:2114/e", source="Orphanet:2114", source="MONDO:equivalentTo"}
xref: Orphanet:2114 {source="OMIM:142669", source="MONDO:equivalentTo"}
xref: SCTID:721148005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0019692 {source="Orphanet:2114"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840572
property_value: exactMatch http://identifiers.org/mesh/C564185
property_value: exactMatch http://identifiers.org/omim/142669
property_value: exactMatch http://identifiers.org/snomedct/721148005
property_value: exactMatch Orphanet:2114

[Term]
id: MONDO:0007727
name: autosomal dominant familial periodic fever
def: "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)." [Orphanet:32960]
subset: ordo_disease {source="Orphanet:32960"}
synonym: "familial Hibernian fever" EXACT [DOID:0090018, OMIM:142680, Orphanet:32960]
synonym: "FHF" RELATED [GARD:0008457]
synonym: "FPF" RELATED [OMIM:142680]
synonym: "Hibernian fever, familial" RELATED [OMIM:142680]
synonym: "periodic FEVER, familial, autosomal dominant" RELATED [OMIM:142680]
synonym: "TNF receptor 1-associated periodic syndrome" EXACT [DOID:0090018, Orphanet:32960]
synonym: "TNF receptor-associated periodic fever syndrome" RELATED [GARD:0008457]
synonym: "TNF receptor-associated periodic syndrome" RELATED [OMIM:142680]
synonym: "TRAPS" EXACT [NCIT:C119051]
synonym: "TRAPS syndrome" EXACT [Orphanet:32960]
synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [DOID:0090018]
synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [NCIT:C119051]
synonym: "tumor necrosis factor receptor-associated periodic syndrome" RELATED [OMIM:142680]
xref: DOID:0090018 {source="MONDO:equivalentTo"}
xref: GARD:0008457 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E85.0 {source="Orphanet:32960", source="DOID:0090018", source="ORDO:32960/attributed", source="ORDO:32960/ntbt"}
xref: MESH:C536657 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119051 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:142680 {source="Orphanet:32960", source="MONDO:equivalentTo", source="DOID:0090018", source="ORDO:32960/e"}
xref: Orphanet:32960 {source="MONDO:equivalentTo", source="OMIM:142680", source="DOID:0090018"}
xref: SCTID:403833009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0017369 {source="Orphanet:32960"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:32960"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017953 {source="MESH:C536657", source="Orphanet:32960"} ! hereditary periodic fever syndrome
relationship: excluded_subClassOf MONDO:0007179 {source="DOID:0090018"} ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1275126
property_value: exactMatch DOID:0090018
property_value: exactMatch http://identifiers.org/mesh/C536657
property_value: exactMatch http://identifiers.org/omim/142680
property_value: exactMatch http://identifiers.org/snomedct/403833009
property_value: exactMatch NCIT:C119051
property_value: exactMatch Orphanet:32960

[Term]
id: MONDO:0007728
name: acne inversa, familial, 1
def: "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acne inversa, familial" RELATED [OMIM:142690]
synonym: "acne inversa, familial, 1" EXACT [MONDO:Lexical, OMIM:142690]
synonym: "acne inversa, familial, 1; ACNINV1" RELATED [OMIM:142690]
synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1, OMIM:142690]
synonym: "ACNINV1" RELATED [MONDO:Lexical, OMIM:142690]
synonym: "familial acne inversa caused by mutation in NCSTN" EXACT [MONDO:design_pattern]
synonym: "hidradenitis suppurativa, familial" RELATED [OMIM:142690]
synonym: "NCSTN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:142690 {source="MONDO:equivalentTo"}
xref: UMLS:CN028850 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="MONDOLEX:0007728", source="OMIM:142690"} ! familial acne inversa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840560
property_value: closeMatch Orphanet:387
property_value: exactMatch http://identifiers.org/omim/142690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN028850

[Term]
id: MONDO:0007729
name: DDH1
subset: prototype_pattern
synonym: "acetabular dysplasia" BROAD [OMIM:142700]
synonym: "DDH1" EXACT [MONDO:Lexical, OMIM:142700]
synonym: "developmental dysplasia of the hip 1" RELATED [MONDO:Lexical, OMIM:142700]
synonym: "developmental dysplasia of the hip 1; DDH1" RELATED [OMIM:142700]
synonym: "hip dysplasia, congenital" BROAD [OMIM:142700]
synonym: "hip dysplasia, developmental" RELATED [OMIM:142700]
xref: OMIM:142700 {source="MONDO:equivalentTo"}
is_a: MONDO:0000158 {source="DC-OMIM:142700", source="OMIM:142700"} ! developmental dysplasia of the hip
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019555
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306065
property_value: exactMatch http://identifiers.org/omim/142700

[Term]
id: MONDO:0007730
name: histiocytic dermatoarthritis
synonym: "histiocytic dermatoarthritis" EXACT [OMIM:142730]
xref: MESH:C564183 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142730 {source="MONDO:equivalentTo"}
xref: UMLS:C1840551 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142730"}
is_a: MONDO:0003847 {source="MESH:C564183/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564183
property_value: exactMatch http://identifiers.org/omim/142730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840551

[Term]
id: MONDO:0007731
name: obsolete HLA modifier
synonym: "HLA modifier" RELATED [OMIM:142770]
is_obsolete: true
consider: OMIM:142770 {source="MONDO:obsoleteEquivalent"}
consider: UMLS:C1840550 {source="NCBI:mim2gene_medline", source="OMIM:142770"}

[Term]
id: MONDO:0007732
name: Holt-Oram syndrome
def: "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." [Orphanet:392]
subset: ordo_malformation_syndrome {source="Orphanet:392"}
synonym: "atrio digital syndrome" RELATED [GARD:0006666]
synonym: "atrio-digital syndrome" EXACT [DOID:0060468]
synonym: "atriodigital dysplasia" EXACT [DOID:0060468]
synonym: "atriodigital dysplasia" RELATED [OMIM:142900]
synonym: "atriodigital dysplasia type 1" EXACT [Orphanet:392]
synonym: "Cardiac-limb syndrome" RELATED [GARD:0006666]
synonym: "heart-hand syndrome" EXACT [DOID:0060468, OMIM:142900]
synonym: "heart-hand syndrome type 1" EXACT [Orphanet:392]
synonym: "heart-hand syndrome, type 1" RELATED [GARD:0006666]
synonym: "Holt-Oram syndrome" EXACT [MONDO:Lexical, OMIM:142900]
synonym: "HOLT-Oram syndrome; HOS" RELATED [OMIM:142900]
synonym: "HOS" EXACT [MONDO:Lexical, OMIM:142900, Orphanet:392]
synonym: "HOS 1" RELATED [GARD:0006666]
synonym: "Hos1" RELATED [OMIM:142900]
synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666]
xref: DOID:0060468 {source="MONDO:equivalentTo"}
xref: GARD:0006666 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="DOID:0060468", source="ORDO:392/ntbt", source="Orphanet:392", source="ORDO:392/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050469 {source="ORDO:392/e", source="Orphanet:392"}
xref: MESH:C535326 {source="ORDO:392/e", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"}
xref: NCIT:C125592 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:142900 {source="ORDO:392/e", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"}
xref: Orphanet:392 {source="OMIM:142900", source="DOID:0060468", source="MONDO:equivalentTo"}
xref: SCTID:19092004 {source="DOID:0060468", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265264 {source="OMIM:142900", source="NCIT:C125592", source="ORDO:392/e", source="NCBI:mim2gene_medline", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"}
is_a: MONDO:0000426 {source="DOID:0060468", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015110 {source="Orphanet:392"} ! genetic cardiac rhythm disease
is_a: MONDO:0015506 {source="Orphanet:392"} ! rare syndrome with cardiac malformations
is_a: MONDO:0016432 {source="Orphanet:392"} ! heart-hand syndrome
is_a: MONDO:0017432 {source="Orphanet:392"} ! syndrome with limb reduction defects
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:392"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/205814003
property_value: exactMatch DOID:0060468
property_value: exactMatch http://identifiers.org/meddra/10050469
property_value: exactMatch http://identifiers.org/mesh/C535326
property_value: exactMatch http://identifiers.org/omim/142900
property_value: exactMatch http://identifiers.org/snomedct/19092004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265264
property_value: exactMatch NCIT:C125592
property_value: exactMatch Orphanet:392

[Term]
id: MONDO:0007733
name: holoprosencephaly 3
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLP3" EXACT [DOID:0110875]
synonym: "Hlp3" RELATED [OMIM:142945]
synonym: "holoprosencephaly 3" EXACT [MONDO:Lexical, OMIM:142945]
synonym: "holoprosencephaly 3; HPE3" RELATED [OMIM:142945]
synonym: "holoprosencephaly caused by mutation in SHH" EXACT []
synonym: "holoprosencephaly caused by mutation in Shh" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 3" EXACT [DOID:0110875, MONDORULE:1, OMIM:142945]
synonym: "HPE3" EXACT [DOID:0110875, MONDO:Lexical, OMIM:142945]
synonym: "SHH holoprosencephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Shh holoprosencephaly" EXACT [MONDO:design_pattern]
xref: DOID:0110875 {source="MONDO:equivalentTo"}
xref: MESH:C564181 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:142945 {source="DOID:0110875", source="MONDO:equivalentTo"}
xref: UMLS:C1840529 {source="OMIM:142945", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="DC-OMIM:142945", source="DOID:0110875", source="MESH:C564181", source="MONDO:Redundant", source="OMIM:142945"} ! holoprosencephaly
property_value: exactMatch DOID:0110875
property_value: exactMatch http://identifiers.org/mesh/C564181
property_value: exactMatch http://identifiers.org/omim/142945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840529

[Term]
id: MONDO:0007734
name: holoprosencephaly 4
def: "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." [NCIT:C75475]
synonym: "holoprosencephaly 4" EXACT [MONDO:Lexical, OMIM:142946]
synonym: "holoprosencephaly 4; HPE4" RELATED [OMIM:142946]
synonym: "holoprosencephaly caused by mutation in TGIF1" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 4" EXACT [DOID:0110880, MONDORULE:1, OMIM:142946]
synonym: "HPE4" EXACT [DOID:0110880, MONDO:Lexical, OMIM:142946]
synonym: "TGIF1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110880 {source="MONDO:equivalentTo"}
xref: MESH:C564180 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75475 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"}
xref: OMIM:142946 {source="MONDO:equivalentTo", source="DOID:0110880"}
xref: UMLS:C1840528 {source="OMIM:142946", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75475"}
is_a: MONDO:0016296 {source="DC-OMIM:142946", source="DOID:0110880", source="MESH:C564180", source="MONDO:Redundant", source="NCIT:C75475", source="OMIM:142946"} ! holoprosencephaly
property_value: exactMatch DOID:0110880
property_value: exactMatch http://identifiers.org/mesh/C564180
property_value: exactMatch http://identifiers.org/omim/142946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840528
property_value: exactMatch NCIT:C75475

[Term]
id: MONDO:0007735
name: congenital Horner syndrome (disease)
def: "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." [Orphanet:91413]
subset: ordo_disease {source="Orphanet:91413"}
synonym: "congenital Claude-Bernard-Horner syndrome" EXACT [Orphanet:91413]
synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous]
synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000]
xref: HP:0006837 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G90.2 {source="ORDO:91413/attributed", source="ORDO:91413/ntbt", source="Orphanet:91413"}
xref: MESH:C564178 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:143000 {source="MONDO:equivalentTo", source="ORDO:91413/e", source="Orphanet:91413"}
xref: Orphanet:91413 {source="MONDO:equivalentTo", source="OMIM:143000"}
xref: UMLS:C1840475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143000", source="MEDGEN:kboom-pr92-c96", source="Orphanet:91413"}
is_a: MONDO:0020169 {source="Orphanet:91413"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/C564178
property_value: exactMatch http://identifiers.org/omim/143000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840475
property_value: exactMatch Orphanet:91413

[Term]
id: MONDO:0007736
name: HPA 1 Recognition polymorphism, beta-globin-related
synonym: "HPA I RECOGNITION polymorphism, BETA-globin-related" RELATED [MONDO:Lexical, OMIM:143020]
synonym: "HPA I RECOGNITION polymorphism, BETA-globin-RELATED; HPA1" RELATED [OMIM:143020]
synonym: "HPA1" RELATED [MONDO:Lexical, OMIM:143020]
synonym: "restriction fragment length polymorphism, sickle cell Anemia-related" RELATED [OMIM:143020]
xref: OMIM:143020 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840474
property_value: exactMatch http://identifiers.org/omim/143020

[Term]
id: MONDO:0007737
name: humeroradial synostosis (disease)
def: "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." [Orphanet:3265]
subset: ordo_morphological_anomaly {source="Orphanet:3265"}
synonym: "humero-radial fusion" EXACT [DOID:0060467, Orphanet:3265]
synonym: "humero-radial synostosis" RELATED [Orphanet:3265]
synonym: "humeroradial synostosis" EXACT [MONDO:ambiguous]
xref: DOID:0060467 {source="MONDO:equivalentTo"}
xref: GARD:0002748 {source="MONDO:equivalentTo"}
xref: HP:0003041 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q74.0 {source="Orphanet:3265", source="DOID:0060467", source="ORDO:3265/attributed", source="ORDO:3265/ntbt"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:143050 {source="Orphanet:3265", source="MONDO:equivalentTo", source="DOID:0060467", source="ORDO:3265/e"}
xref: Orphanet:3265 {source="OMIM:143050", source="MONDO:equivalentTo", source="DOID:0060467"}
xref: SCTID:205329008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.67/1.59"}
is_a: MONDO:0001411 {source="DOID:0060467"} ! synostosis
is_a: MONDO:0017429 {source="Orphanet:3265"} ! joint formation defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930865
property_value: exactMatch DOID:0060467
property_value: exactMatch http://identifiers.org/omim/143050
property_value: exactMatch http://identifiers.org/snomedct/205329008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431800
property_value: exactMatch Orphanet:3265

[Term]
id: MONDO:0007738
name: spondyloepiphyseal dysplasia with congenital joint dislocations
def: "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." [Orphanet:263463]
subset: gard_rare
subset: ordo_disease {source="Orphanet:263463"}
synonym: "bifurcation of distal humerus with oligoectro-syndactyly" RELATED [GARD:0002533, MESH:C537283]
synonym: "chondrodysplasia with congenital joint dislocations, CHST3 type" EXACT [Orphanet:263463]
synonym: "chondrodysplasia with multiple dislocations" EXACT [DOID:0050813, OMIM:143095]
synonym: "CHST3-related skeletal dysplasia" EXACT [DOID:0050813]
synonym: "Gollop Coates syndrome" RELATED [GARD:0002533]
synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [DOID:0050813]
synonym: "Humerospinal dysostosis" EXACT [DOID:0050813, OMIM:143095]
synonym: "Kozlowski Celermajer tink syndrome" EXACT [DOID:0050813]
synonym: "Omani type" EXACT [DOID:0050813]
synonym: "SDCD, CHST3 type" EXACT [Orphanet:263463]
synonym: "SEDCJD" RELATED [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia" EXACT [DOID:0050813]
synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia with congenital JOINT dislocations; SEDCJD" RELATED [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" EXACT [Orphanet:263463]
synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095]
xref: DOID:0050813 {source="MONDO:equivalentTo"}
xref: GARD:0002533 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:263463", source="ORDO:263463/attributed", source="ORDO:263463/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537283 {source="MONDO:equivalentTo"}
xref: OMIM:143095 {source="ORDO:263463/e", source="GARD:0002533", source="Orphanet:263463", source="MONDO:equivalentTo", source="DOID:0050813"}
xref: Orphanet:263463 {source="OMIM:143095", source="MONDO:equivalentTo"}
xref: SCTID:702400006 {source="MONDO:kboom-pr-0.92/0.84/0.07", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="DOID:0050813"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0017742 {source="Orphanet:263463"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018292 {source="Orphanet:263463"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:263463"} ! primary bone dysplasia with multiple joint dislocations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837657
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840471
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931466
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931649
property_value: exactMatch DOID:0050813
property_value: exactMatch http://identifiers.org/mesh/C537283
property_value: exactMatch http://identifiers.org/omim/143095
property_value: exactMatch http://identifiers.org/snomedct/702400006
property_value: exactMatch Orphanet:263463
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome xsd:anyURI {source="GARD:0002533"}

[Term]
id: MONDO:0007739
name: Huntington disease
def: "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." [Orphanet:399]
subset: ordo_disease {source="Orphanet:399"}
synonym: "HD" EXACT [CSP2005:2057-3283, DOID:12858, MONDO:Lexical, OMIM:143100]
synonym: "Huntington chorea" EXACT [OMIM:143100, Orphanet:399]
synonym: "Huntington disease" EXACT [DOID:12858, MONDO:Lexical, OMIM:143100]
synonym: "Huntington disease; HD" RELATED [OMIM:143100]
synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM_2006:333.4]
synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: COHD:374341 {source="MONDO:equivalentTo"}
xref: DOID:12858 {source="MONDO:equivalentTo"}
xref: GARD:0006677 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G10 {source="DOID:12858", source="ORDO:399/specific", source="ORDO:399/e", source="Orphanet:399"}
xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="i2s"}
xref: KEGG:05016 {source="DOID:12858", source="MONDO:equivalentTo"}
xref: MedDRA:10070668 {source="ORDO:399/e", source="Orphanet:399"}
xref: NCIT:C82342 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:143100 {source="DOID:12858", source="MONDO:equivalentTo", source="ORDO:399/e", source="Orphanet:399"}
xref: Orphanet:399 {source="MONDO:equivalentTo", source="OMIM:143100"}
xref: SCTID:58756001 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020179 {source="DOID:12858", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143100", source="NCIT:C82342", source="ORDO:399/e", source="Orphanet:399"}
is_a: MONDO:0000167 {source="MONDO:cjm"} ! Huntington disease and related disorders
is_a: MONDO:0017646 {source="Orphanet:399"} ! neurodegenerative disease with chorea
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0021037 {source="MONDO:Redundant", source="Orphanet:399"} ! genetic neurodegenerative disease with dementia
relationship: disease_has_feature MONDO:0001627 {source="Wikidata"} ! dementia (disease)
relationship: disease_has_feature MONDO:0020258 {source="https://orcid.org/0000-0002-2825-0621"} ! oculomotor apraxia or related oculomotor disease
property_value: closeMatch http://identifiers.org/snomedct/155006000
property_value: exactMatch DOID:12858
property_value: exactMatch http://identifiers.org/meddra/10070668
property_value: exactMatch http://identifiers.org/mesh/D006816
property_value: exactMatch http://identifiers.org/omim/143100
property_value: exactMatch http://identifiers.org/snomedct/58756001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020179
property_value: exactMatch NCIT:C82342
property_value: exactMatch Orphanet:399

[Term]
id: MONDO:0007740
name: Wagner disease
def: "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." [Orphanet:898]
subset: ordo_disease {source="Orphanet:898"}
synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [Orphanet:898]
synonym: "erosive vitreoretinopathy" RELATED [OMIM:143200]
synonym: "ERVR" RELATED [GARD:0007871]
synonym: "hyaloideoretinal Degeneration of Wagner" RELATED [OMIM:143200]
synonym: "VCAN-related vitreoretinopathy" EXACT [Orphanet:898]
synonym: "vitreoretinal degeneration, Wagner type" EXACT [Orphanet:898]
synonym: "Wagner disease (formerly)" RELATED [GARD:0007871]
synonym: "Wagner syndrome" EXACT [Orphanet:898]
synonym: "Wagner syndrome 1" RELATED [OMIM:143200]
synonym: "Wagner syndrome type 1" RELATED [GARD:0007871]
synonym: "Wagner vitreoretinal Degeneration" RELATED [OMIM:143200]
synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200]
synonym: "Wagner vitreoretinopathy; WGVRP" RELATED [OMIM:143200]
synonym: "WGN1" RELATED [GARD:0007871]
synonym: "WGVRP" RELATED [MONDO:Lexical, OMIM:143200]
xref: GARD:0007871 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="ORDO:898/attributed", source="ORDO:898/ntbt"}
xref: MedDRA:10063383 {source="ORDO:898/e", source="Orphanet:898"}
xref: MESH:C536075 {source="ORDO:898/e", source="Orphanet:898", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:143200 {source="ORDO:898/e", source="Orphanet:898", source="MONDO:equivalentTo"}
xref: Orphanet:898 {source="MONDO:equivalentTo", source="OMIM:143200"}
xref: SCTID:232064001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1840452 {source="ORDO:898/e", source="Orphanet:898", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:143200"}
is_a: MONDO:0020208 {source="Orphanet:898"} ! syndromic myopia
is_a: MONDO:0020248 {source="Orphanet:898"} ! vitreoretinal degeneration
property_value: exactMatch http://identifiers.org/meddra/10063383
property_value: exactMatch http://identifiers.org/mesh/C536075
property_value: exactMatch http://identifiers.org/omim/143200
property_value: exactMatch http://identifiers.org/snomedct/232064001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840452
property_value: exactMatch Orphanet:898

[Term]
id: MONDO:0007741
name: congenital hydronephrosis
def: "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." [Orphanet:2190]
comment: Editor note: TODO check relationship to OMIM:143400
subset: ordo_morphological_anomaly {source="Orphanet:2190"}
xref: COHD:4037874 {source="MONDO:equivalentTo"}
xref: ICD10:Q62.0 {source="MONDO:equivalentTo", source="ORDO:2190/e", source="Orphanet:2190", source="ORDO:2190/specific"}
xref: ICD9:753.29 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050975 {source="ORDO:2190/e", source="Orphanet:2190"}
xref: NCIT:C102979 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:2190 {source="MONDO:equivalentTo", source="OMIM:143400"}
xref: SCTID:16297002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.29"}
xref: UMLS:C0266316 {source="NCIT:C102979", source="MONDO:equivalentTo", source="ORDO:2190/e", source="Orphanet:2190"}
is_a: MONDO:0005510 {source="NCIT:C102979", source="linkedlifedata"} ! hydronephrosis
is_a: MONDO:0019720 {source="Orphanet:2190"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/meddra/10050975
property_value: exactMatch http://identifiers.org/snomedct/16297002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266316
property_value: exactMatch NCIT:C102979
property_value: exactMatch Orphanet:2190

[Term]
id: MONDO:0007742
name: 5-hydroxytryptamine oxygenase regulator
synonym: "5-hydroxytryptamine oxygenase regulator" EXACT [MONDO:Lexical, OMIM:143460]
synonym: "5-HYDROXYTRYPTAMINE oxygenase regulator; HTOR" RELATED [OMIM:143460]
synonym: "HTOR" RELATED [MONDO:Lexical, OMIM:143460]
xref: OMIM:143460 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:143460/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415802
property_value: exactMatch http://identifiers.org/omim/143460

[Term]
id: MONDO:0007743
name: attention deficit-hyperactivity disorder
def: "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). At least some of the symptoms must be present before the age of 7 years." [NCIT:C97160]
comment: TODO merge with MONDO:0005302
synonym: "ADHD" RELATED [MONDO:Lexical, OMIM:143465]
synonym: "attention deficit hyperactivity disorder" EXACT [NCIT:C97160]
synonym: "attention deficit hyperactivity disorder" RELATED [NCIT:C97160]
synonym: "attention deficit-hyperactivity disorder" EXACT [MONDO:Lexical, OMIM:143465]
synonym: "attention deficit-hyperactivity disorder; ADHD" RELATED [OMIM:143465]
synonym: "attention deficit/hyperactivity disorder" EXACT [NCIT:C97160]
synonym: "hyperactivity of childhood" RELATED [OMIM:143465]
xref: NCIT:C97160 {source="MONDO:kboom-pr-0.95/0.77/1.93", source="MONDO:equivalentTo"}
xref: OMIM:143465 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:143465"} ! attention deficit disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1263846
property_value: exactMatch http://identifiers.org/omim/143465
property_value: exactMatch NCIT:C97160

[Term]
id: MONDO:0007744
name: cholesterol-ester transfer protein deficiency
subset: ordo_disease {source="Orphanet:79506"}
synonym: "CEPT deficiency" EXACT [Orphanet:79506]
synonym: "CETP deficiency" RELATED [OMIM:143470]
synonym: "cholesterol ester transfer Protein deficiency" RELATED [OMIM:143470]
synonym: "familial hyperalphalipoproteinemia" EXACT [Orphanet:79506]
synonym: "HALP1" RELATED [MONDO:Lexical, OMIM:143470]
synonym: "Hdlcq10" RELATED [OMIM:143470]
synonym: "high density lipoprotein cholesterol level quantitative trait locus 10" RELATED [OMIM:143470]
synonym: "hyperalphalipoproteinemia 1" RELATED [MONDO:Lexical, OMIM:143470]
synonym: "hyperalphalipoproteinemia 1; HALP1" RELATED [OMIM:143470]
synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470]
xref: ICD10:E78.4 {source="Orphanet:79506", source="ORDO:79506/attributed", source="ORDO:79506/ntbt"}
xref: OMIM:143470 {source="ORDO:79506/e", source="Orphanet:79506", source="MONDO:equivalentTo"}
xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"}
xref: SCTID:15771000119109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3875011 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015903 {source="Orphanet:79506", source="linkedlifedata"} ! hyperalphalipoproteinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149462
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149463
property_value: exactMatch http://identifiers.org/omim/143470
property_value: exactMatch http://identifiers.org/snomedct/15771000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3875011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205999
property_value: exactMatch Orphanet:79506

[Term]
id: MONDO:0007745
name: Gilbert syndrome
def: "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." [NCIT:P378]
synonym: "constitutional hyperbilirubinemia" EXACT [DOID:2739, MTHICD9_2006:277.4]
synonym: "Gilbert disease" EXACT [NCIT:C84729]
synonym: "Gilbert syndrome" EXACT [OMIM:143500]
synonym: "Gilbert's disease" EXACT [DOID:2739]
synonym: "Gilbert's syndrome" EXACT [DOID:2739]
synonym: "Gilbert-Meulengracht syndrome" EXACT [DOID:2739]
synonym: "hereditary nonhemolytic jaundice" EXACT [CSP2005:1654-1020, DOID:2739]
synonym: "hyperbilirubinemia 1" RELATED [OMIM:143500]
synonym: "hyperbilirubinemia, Arias type" RELATED [OMIM:143500]
synonym: "hyperbilirubinemia, Gilbert type" RELATED [OMIM:143500]
xref: COHD:4099740 {source="MONDO:equivalentTo"}
xref: DOID:2739 {source="EFO:0005556", source="MONDO:equivalentTo"}
xref: EFO:0005556 {source="MONDO:equivalentTo"}
xref: GARD:0006507 {source="MONDO:equivalentTo"}
xref: ICD10:E80.4 {source="MONDO:equivalentTo", source="DOID:2739"}
xref: MESH:D005878 {source="EFO:0005556", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2739"}
xref: NCIT:C84729 {source="EFO:0005556", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2739"}
xref: OMIM:143500 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"}
xref: SCTID:27503000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2739"}
is_a: MONDO:0002254 {source="MONDOLEX:0007745", source="NCIT:C84729"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:143500", source="DOID:2739", source="MESH:D005878", source="MONDOLEX:0007745", source="NCIT:C84729", source="OMIM:143500"} ! hereditary hyperbilirubinemia
property_value: closeMatch http://identifiers.org/snomedct/154770008
property_value: closeMatch http://identifiers.org/snomedct/267509000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017551
property_value: closeMatch Orphanet:357
property_value: exactMatch DOID:2739
property_value: exactMatch http://identifiers.org/mesh/D005878
property_value: exactMatch http://identifiers.org/omim/143500
property_value: exactMatch http://identifiers.org/snomedct/27503000
property_value: exactMatch NCIT:C84729

[Term]
id: MONDO:0007746
name: orthostatic hypotensive disorder, Streeten type
synonym: "hyperbradykininism" RELATED [OMIM:143850]
synonym: "OHDS" RELATED [OMIM:143850]
synonym: "orthostatic hypotensive disorder" RELATED [OMIM:143850]
synonym: "orthostatic hypotensive disorder, Streeten type" EXACT [OMIM:143850]
xref: MESH:C564174 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:143850 {source="MONDO:equivalentTo"}
xref: UMLS:C1840438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564174
property_value: exactMatch http://identifiers.org/omim/143850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840438

[Term]
id: MONDO:0007747
name: isolated hyperchlorhidrosis
subset: ordo_disease
synonym: "hyperchlorhidrosis, isolated" EXACT [OMIM:143860]
xref: ICD9:276.9 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:143860 {source="MONDO:equivalentTo", source="Orphanet:542657"}
xref: Orphanet:542657 {source="MONDO:equivalentTo"}
xref: SCTID:709413001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0021026 {source="Orphanet:542657"} ! genetic epidermal appendage anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840437
property_value: exactMatch http://identifiers.org/omim/143860
property_value: exactMatch http://identifiers.org/snomedct/709413001
property_value: exactMatch Orphanet:542657

[Term]
id: MONDO:0007748
name: hypercalciuria, absorptive, 2
synonym: "HCA2" RELATED [MONDO:Lexical, OMIM:143870]
synonym: "hypercalciuria, absorptive, 2" EXACT [MONDO:Lexical, OMIM:143870]
synonym: "hypercalciuria, absorptive, 2; HCA2" RELATED [OMIM:143870]
synonym: "hypercalciuria, absorptive, type 2" EXACT [MONDORULE:1, OMIM:143870]
synonym: "hypercalciuria, familial idiopathic" RELATED [OMIM:143870]
xref: ICD9:V18.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562790 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:143870 {source="MONDO:equivalentTo"}
xref: SCTID:237886009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0016352 {source="MONDO:Redundant", source="ORDO:2197/btnt"} ! idiopathic inherited hypercalciuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342639
property_value: exactMatch http://identifiers.org/mesh/C562790
property_value: exactMatch http://identifiers.org/omim/143870
property_value: exactMatch http://identifiers.org/snomedct/237886009

[Term]
id: MONDO:0007749
name: autosomal recessive infantile hypercalcemia
def: "A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis." [NCIT:C129734]
subset: ordo_disease {source="Orphanet:300547"}
subset: prototype_pattern
synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern]
synonym: "familial infantile hypercalcemia with suppressed intact parathyroid hormone" EXACT [Orphanet:300547]
synonym: "hypercalcemia, idiopathic, of infancy" RELATED [OMIM:143880]
synonym: "hypercalcemia, infantile" RELATED [OMIM:143880]
synonym: "hypercalcemia, infantile, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive]
synonym: "idiopathic infantile hypercalcemia" EXACT [NCIT:C129734]
xref: ICD10:E83.5 {source="ORDO:300547/attributed", source="ORDO:300547/ntbt", source="Orphanet:300547"}
xref: NCIT:C129734 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:300547 {source="MONDO:equivalentTo", source="OMIM:143880"}
xref: SCTID:34225008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46"}
xref: UMLS:C4329374 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN203398 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000212 {source="DC-OMIM:143880", source="MONDO:Redundant", source="OMIM:143880", source="linkedlifedata"} ! hypercalcemia, infantile
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015970 {source="Orphanet:300547"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019061 {source="Orphanet:300547"} ! rare parathyroid disease and phosphocalcic metabolism anomaly
is_a: MONDO:0019743 {source="Orphanet:300547"} ! nephropathy secondary to a storage or other metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/34225008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203398
property_value: exactMatch NCIT:C129734
property_value: exactMatch Orphanet:300547

[Term]
id: MONDO:0007750
name: hypercholesterolemia, familial, 1
synonym: "FHC" RELATED [OMIM:143890]
synonym: "FHCL1" EXACT [OMIM:143890]
synonym: "hyper-low-density-lipoproteinemia" RELATED [OMIM:143890]
synonym: "hypercholesterolemia, familial" EXACT [OMIM:143890]
synonym: "hypercholesterolemic xanthomatosis, familial" RELATED [OMIM:143890]
synonym: "hyperlipoproteinemia, type 2" RELATED [OMIM:143890]
synonym: "hyperlipoproteinemia, type 2A" RELATED [OMIM:143890]
synonym: "LDL receptor disorder" RELATED [OMIM:143890]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 2" RELATED [OMIM:143890]
xref: OMIM:143890 {source="MONDO:equivalentTo"}
xref: SCTID:398036000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0005439 {source="DC-OMIM:143890", source="MONDO:cjm"} ! familial hypercholesterolemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020445
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0745103
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276941
property_value: closeMatch Orphanet:406
property_value: exactMatch http://identifiers.org/omim/143890
property_value: exactMatch http://identifiers.org/snomedct/398036000

[Term]
id: MONDO:0007751
name: hypercholesterolemia, autosomal dominant, type B
synonym: "apolipoprotein B-100, familial defective" RELATED [OMIM:144010]
synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [OMIM:144010]
synonym: "hypercholesterolemia, autosomal dominant, type B" EXACT [OMIM:144010]
synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [OMIM:144010]
xref: OMIM:144010 {source="MONDO:equivalentTo"}
xref: SCTID:238081000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0005439 {source="DC-OMIM:144010"} ! familial hypercholesterolemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704417
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931106
property_value: closeMatch Orphanet:406
property_value: exactMatch http://identifiers.org/omim/144010
property_value: exactMatch http://identifiers.org/snomedct/238081000

[Term]
id: MONDO:0007752
name: hyperheparinemia
synonym: "hyperheparinemia" EXACT [OMIM:144050]
xref: ICD9:286.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562723 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:144050 {source="MONDO:equivalentTo"}
xref: SCTID:79674009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3203346 {source="OMIM:144050", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272273
property_value: exactMatch http://identifiers.org/mesh/C562723
property_value: exactMatch http://identifiers.org/omim/144050
property_value: exactMatch http://identifiers.org/snomedct/79674009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3203346

[Term]
id: MONDO:0007753
name: Frey syndrome
def: "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" [MESH:D013547]
synonym: "auriculotemporal nerve syndrome" RELATED [OMIM:144100]
synonym: "Baillarger syndrome" EXACT [DOID:11599]
synonym: "Frey syndrome" EXACT [OMIM:144100]
synonym: "Frey's syndrome" RELATED [GARD:0006467]
synonym: "gustatory hyperhidrosis" EXACT [DOID:11599]
synonym: "gustatory sweating" EXACT [DOID:11599, OMIM:144100]
synonym: "hyperhidrosis gustatory" RELATED [GARD:0006467]
synonym: "hyperhidrosis, gustatory" RELATED [MONDO:Lexical, OMIM:144100]
synonym: "hyperhidrosis, gustatory; HYPRG" RELATED [OMIM:144100]
synonym: "HYPRG" RELATED [MONDO:Lexical, OMIM:144100]
xref: DOID:11599 {source="MONDO:equivalentTo", source="EFO:1000940"}
xref: EFO:1000940 {source="MONDO:equivalentTo"}
xref: GARD:0006467 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:D013547 {source="DOID:11599", source="MONDO:equivalentTo", source="EFO:1000940", source="MONDO:ontobio"}
xref: OMIM:144100 {source="DOID:11599", source="MONDO:equivalentTo"}
xref: SCTID:238758008 {source="DOID:11599", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52"}
is_a: MONDO:0001292 {source="DOID:11599", source="MESH:D013547"} ! autonomic nervous system disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/56046002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038994
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162473
property_value: exactMatch DOID:11599
property_value: exactMatch http://identifiers.org/mesh/D013547
property_value: exactMatch http://identifiers.org/omim/144100
property_value: exactMatch http://identifiers.org/snomedct/238758008

[Term]
id: MONDO:0007754
name: HYPRPP
synonym: "hyperhidrosis palmaris ET plantaris" RELATED [MONDO:Lexical, OMIM:144110]
synonym: "hyperhidrosis palmaris ET plantaris; HYPRPP" RELATED [OMIM:144110]
synonym: "hyperhidrosis, primary palmar" RELATED [OMIM:144110]
synonym: "HYPRPP" EXACT [MONDO:Lexical, OMIM:144110]
xref: MESH:C563185 {source="MONDO:equivalentTo"}
xref: OMIM:144110 {source="MONDO:equivalentTo"}
xref: UMLS:C1274743 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:144110"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563185
property_value: exactMatch http://identifiers.org/omim/144110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274743

[Term]
id: MONDO:0007755
name: hyperimmunoglobulin G1(A1) syndrome
synonym: "hyperimmunoglobulin G1(A1) syndrome" EXACT [OMIM:144120]
synonym: "Immunoglobulin heavy chain regulator" RELATED [OMIM:144120]
xref: MESH:C564173 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:144120 {source="MONDO:equivalentTo"}
xref: UMLS:C1840429 {source="OMIM:144120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415995
property_value: exactMatch http://identifiers.org/mesh/C564173
property_value: exactMatch http://identifiers.org/omim/144120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840429

[Term]
id: MONDO:0007756
name: hyperkeratosis lenticularis perstans (disease)
subset: ordo_disease {source="Orphanet:409"}
synonym: "Flegel disease" EXACT [OMIM:144150, Orphanet:409]
synonym: "Flegel's disease" RELATED [GARD:0002824]
synonym: "HLP" RELATED [MONDO:Lexical, OMIM:144150]
synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150]
synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824]
synonym: "hyperkeratosis lenticularis perstans; HLP" RELATED [OMIM:144150]
xref: GARD:0002824 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0007570 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10071311 {source="ORDO:409/e", source="Orphanet:409"}
xref: MESH:C538377 {source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409", source="MONDO:ontobio"}
xref: OMIM:144150 {source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409"}
xref: Orphanet:409 {source="OMIM:144150", source="MONDO:equivalentTo"}
xref: SCTID:28488007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0263420 {source="MEDGEN:kboom-pr97-c99", source="OMIM:144150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409"}
is_a: MONDO:0019274 {source="Orphanet:409"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:409"} ! other genetic epidermal disease
property_value: exactMatch http://identifiers.org/meddra/10071311
property_value: exactMatch http://identifiers.org/mesh/C538377
property_value: exactMatch http://identifiers.org/omim/144150
property_value: exactMatch http://identifiers.org/snomedct/28488007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263420
property_value: exactMatch Orphanet:409

[Term]
id: MONDO:0007757
name: hyperkeratosis-hyperpigmentation syndrome
def: "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." [Orphanet:1336]
subset: ordo_disease {source="Orphanet:1336"}
synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190]
xref: ICD10:Q82.8 {source="ORDO:1336/attributed", source="ORDO:1336/ntbt", source="Orphanet:1336"}
xref: MESH:C564172 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="ORDO:1336/e"}
xref: Orphanet:1336 {source="MONDO:equivalentTo", source="OMIM:144190"}
xref: UMLS:C1840428 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1336", source="OMIM:144190"}
is_a: MONDO:0017679 {source="Orphanet:1336"} ! autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
is_a: MONDO:0019289 {source="Orphanet:1336"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C564172
property_value: exactMatch http://identifiers.org/omim/144190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840428
property_value: exactMatch Orphanet:1336

[Term]
id: MONDO:0007758
name: epidermolytic palmoplantar keratoderma
def: "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." [NCIT:C84693]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2199"}
synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [Orphanet:2199]
synonym: "diffuse erythrodermic palmoplantar keratoderma, Voerner type" EXACT [Orphanet:2199]
synonym: "diffuse erythrodermic palmoplantar keratoderma, Vörner type" RELATED [GARD:0002826]
synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [Orphanet:2199]
synonym: "epidermolytic palmoplantar keratoderma of Voerner" EXACT [GARD:0002826, Orphanet:2199]
synonym: "epidermolytic palmoplantar keratoderma of Vörner" RELATED [GARD:0002826]
synonym: "EPPK" EXACT [GARD:0002826, MONDO:Lexical, OMIM:144200, Orphanet:2199]
synonym: "hyperkeratosis palmoplantar localized epidermolytic" RELATED [GARD:0002826]
synonym: "hyperkeratosis, localized epidermolytic" RELATED [OMIM:144200]
synonym: "keratoderma, epidermolytic palmoplantar" RELATED [OMIM:144200]
synonym: "keratosis of Greither" RELATED [OMIM:144200]
synonym: "keratosis palmaris Et plantaris Familiaris" RELATED [OMIM:144200]
synonym: "palmoplantar keratoderma, epidermolytic" RELATED [MONDO:Lexical, OMIM:144200]
synonym: "palmoplantar keratoderma, epidermolytic, with knuckle pads" RELATED [OMIM:144200]
synonym: "palmoplantar keratoderma, epidermolytic; EPPK" RELATED [OMIM:144200]
synonym: "palmoplantar keratoderma, Vorner type" RELATED [OMIM:144200]
synonym: "Ppke" RELATED [OMIM:144200]
synonym: "tylosis" RELATED [OMIM:144200]
xref: DOID:0080223 {source="MONDO:equivalentTo"}
xref: GARD:0002826 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2199", source="ORDO:2199/attributed", source="ORDO:2199/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C84693 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.12"}
xref: OMIM:144200 {source="Orphanet:2199", source="ORDO:2199/e", source="MONDO:equivalentTo", source="DOID:0080223"}
xref: Orphanet:2199 {source="MONDO:equivalentTo", source="OMIM:144200", source="GARD:0002826"}
xref: SCTID:399955009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.43/0.23"}
xref: UMLS:C1721006 {source="Orphanet:2199", source="ORDO:2199/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:144200", source="NCIT:C84693"}
is_a: MONDO:0020093 {source="Orphanet:2199"} ! autosomal dominant isolated diffuse palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840427
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936837
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489771
property_value: exactMatch DOID:0080223
property_value: exactMatch http://identifiers.org/omim/144200
property_value: exactMatch http://identifiers.org/snomedct/399955009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1721006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931735
property_value: exactMatch NCIT:C84693
property_value: exactMatch Orphanet:2199
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma xsd:anyURI {source="GARD:0002826"}

[Term]
id: MONDO:0007759
name: hyperlipidemia, familial combined, LPL related
comment: Editor note: the OMIM:144250 entry refers to the LPL-caused form
synonym: "familial combined hyperlipidemia" RELATED [OMIM:144250]
synonym: "FCHL" RELATED [MONDO:Lexical, OMIM:144250]
synonym: "hyperlipidemia, familial combined" RELATED [MONDO:Lexical, OMIM:144250]
synonym: "hyperlipidemia, familial combined; FCHL" RELATED [OMIM:144250]
xref: OMIM:144250 {source="MONDO:equivalentTo"}
is_a: MONDO:0001807 {source="DC-OMIM:144250"} ! familial combined hyperlipidemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020474
property_value: exactMatch http://identifiers.org/omim/144250

[Term]
id: MONDO:0007760
name: hyperlipoproteinemia, type II, and deafness
synonym: "hyperlipoproteinemia, type II, and deafness" EXACT [OMIM:144300]
xref: MESH:C564170 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:144300 {source="MONDO:equivalentTo"}
xref: UMLS:C1840425 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:144300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564170
property_value: exactMatch http://identifiers.org/omim/144300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840425

[Term]
id: MONDO:0007761
name: hyperlipoproteinemia type IV
def: "A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." [NCIT:P378]
subset: gard_rare {source="GARD:0006418"}
synonym: "carbohydrate inducible hyperlipemia" RELATED [GARD:0006418]
synonym: "carbohydrate-inducible hyperlipemia" RELATED [OMIM:144600]
synonym: "endogenous hyperlipidaemia" EXACT [DOID:1172]
synonym: "familial hypertriglyceridemia" BROAD [DOID:1172]
synonym: "familial type IV hyperlipoproteinemia" RELATED [GARD:0006418]
synonym: "Fredrickson type IV hyperlipoproteinemia" EXACT [DOID:1172]
synonym: "Fredrickson type IV lipidaemia" EXACT [DOID:1172]
synonym: "Fredrickson type IV Lipidemia" EXACT [DOID:1172, NCIT:C34711]
synonym: "hyperlipoproteinemia type 4" RELATED [GARD:0006418]
synonym: "hyperlipoproteinemia, type 4" RELATED [OMIM:144600]
synonym: "hyperlipoproteinemia, type IV" RELATED [OMIM:144600]
synonym: "VLDL hyperlipoproteinemia" EXACT [DOID:1172, MTHICD9_2006:272.1]
xref: DOID:1172 {source="MONDO:equivalentTo"}
xref: GARD:0006418 {source="MONDO:equivalentTo"}
xref: ICD10:E78.1 {source="DOID:1172"}
xref: ICD9:272.1 {source="DOID:1172"}
xref: MESH:D006953 {source="MONDO:equivalentTo", source="DOID:1172"}
xref: OMIM:144600 {source="MONDO:equivalentTo", source="DOID:1172"}
xref: SCTID:238085009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10", source="DOID:1172"}
xref: UMLS:CN074246 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001336 {source="DC-OMIM:144600", source="DOID:1172", source="MESH:D006953/inferred", source="MONDOLEX:0007761"} ! familial hyperlipidemia
property_value: closeMatch http://identifiers.org/snomedct/129589009
property_value: closeMatch http://identifiers.org/snomedct/154741004
property_value: closeMatch http://identifiers.org/snomedct/190779007
property_value: closeMatch http://identifiers.org/snomedct/267433009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020480
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931350
property_value: closeMatch Orphanet:413
property_value: exactMatch DOID:1172
property_value: exactMatch http://identifiers.org/mesh/D006953
property_value: exactMatch http://identifiers.org/omim/144600
property_value: exactMatch http://identifiers.org/snomedct/238085009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074246
property_value: exactMatch NCIT:C34711
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 xsd:anyURI {source="GARD:0006418"}

[Term]
id: MONDO:0007762
name: hyperlipoproteinemia type V
def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I ." [MESH:D006954]
subset: gard_rare {source="GARD:0006704"}
subset: ordo_disease {source="Orphanet:70470"}
synonym: "familial hyperlipoproteinemia type V" EXACT [CSP2005:1849-4520, DOID:1171]
synonym: "familial type 5 hyperlipoproteinemia" EXACT [DOID:1171]
synonym: "Fredrickson type V lipaemia" EXACT [DOID:1171]
synonym: "HLP type 5" EXACT [Orphanet:70470]
synonym: "hyperchylomicronemia late onset" RELATED [GARD:0006704]
synonym: "hyperchylomicronemia with Hyperprebetalipoproteinemia, familial" RELATED [OMIM:144650]
synonym: "hyperchylomicronemia, late-onset" RELATED [OMIM:144650]
synonym: "hyperlipemia combined fat and carbohydrate-induced" RELATED [GARD:0006704]
synonym: "hyperlipemia mixed" RELATED [GARD:0006704]
synonym: "hyperlipemia, combined fat and carbohydrate-induced" RELATED [OMIM:144650]
synonym: "hyperlipemia, mixed" RELATED [OMIM:144650]
synonym: "hyperlipidemia type V" RELATED [GARD:0006704]
synonym: "hyperlipidemia, type 5" RELATED [OMIM:144650]
synonym: "hyperlipoproteinemia type 5" RELATED [GARD:0006704]
synonym: "hyperlipoproteinemia, type 5" RELATED [OMIM:144650]
synonym: "hyperlipoproteinemia, type V" RELATED [OMIM:144650]
synonym: "major hyperlipidemia" EXACT [Orphanet:70470]
synonym: "mixed hyperlipemia" RELATED [GARD:0006704]
synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704]
xref: DOID:1171 {source="MONDO:equivalentTo"}
xref: GARD:0006704 {source="MONDO:equivalentTo"}
xref: ICD10:E78.3 {source="Orphanet:70470", source="ORDO:70470/inclusion", source="ORDO:70470/ntbt"}
xref: MedDRA:10060755 {source="Orphanet:70470", source="ORDO:70470/e"}
xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1171", source="ORDO:70470/e"}
xref: OMIM:144650 {source="Orphanet:70470", source="MONDO:equivalentTo", source="DOID:1171", source="ORDO:70470/e"}
xref: Orphanet:70470 {source="MONDO:equivalentTo", source="OMIM:144650"}
xref: SCTID:34349009 {source="MONDO:kboom-pr-1.00/0.91/27.47", source="MONDO:equivalentTo", source="DOID:1171"}
is_a: MONDO:0001336 {source="DC-OMIM:144650", source="DOID:1171", source="MESH:D006954/inferred"} ! familial hyperlipidemia
is_a: MONDO:0015902 {source="Orphanet:70470"} ! major hypertriglyceridemia
property_value: closeMatch http://identifiers.org/snomedct/190781009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489395
property_value: exactMatch DOID:1171
property_value: exactMatch http://identifiers.org/meddra/10060755
property_value: exactMatch http://identifiers.org/mesh/D006954
property_value: exactMatch http://identifiers.org/omim/144650
property_value: exactMatch http://identifiers.org/snomedct/34349009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020481
property_value: exactMatch NCIT:C35645
property_value: exactMatch Orphanet:70470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 xsd:anyURI {source="GARD:0006704"}

[Term]
id: MONDO:0007763
name: nonpapillary renal cell carcinoma
comment: Editor note: consider merging into MONDO:0005005
subset: ordo_disease {source="Orphanet:319276"}
synonym: "adenocarcinoma of kidney" RELATED [OMIM:144700]
synonym: "CCRCC" EXACT [Orphanet:319276]
synonym: "clear cell renal cell adenocarcinoma" EXACT [Orphanet:319276]
synonym: "clear cell renal cell carcinoma" EXACT [Orphanet:319276]
synonym: "hypernephroma" RELATED [OMIM:144700]
synonym: "nonpapillary renal carcinoma 1 locus" RELATED [OMIM:144700]
synonym: "RCC" RELATED [MONDO:Lexical, OMIM:144700]
synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical, OMIM:144700]
synonym: "renal cell carcinoma, nonpapillary; RCC" RELATED [OMIM:144700]
xref: DOID:0050387 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="ORDO:319276/ntbt", source="Orphanet:319276"}
xref: OMIM:144700 {source="DOID:0050387", source="MONDO:equivalentTo"}
xref: Orphanet:319276 {source="MONDO:equivalentTo"}
is_a: MONDO:0005086 {source="DOID:0050387/inferred", source="MONDOLEX:0007763", source="Orphanet:319276"} ! renal cell carcinoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279702
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750825
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160732
property_value: exactMatch DOID:0050387
property_value: exactMatch http://identifiers.org/omim/144700
property_value: exactMatch Orphanet:319276

[Term]
id: MONDO:0007764
name: autosomal dominant osteosclerosis, Worth type
def: "Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." [Orphanet:2790]
subset: ordo_malformation_syndrome {source="Orphanet:2790"}
synonym: "endosteal hyperostosis, autosomal dominant" RELATED [OMIM:144750]
synonym: "endosteal hyperostosis, Worth type" EXACT [Orphanet:2790]
synonym: "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" RELATED [GARD:0000390]
synonym: "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus" RELATED [OMIM:144750]
synonym: "osteosclerosis, autosomal dominant" RELATED [OMIM:144750]
synonym: "osteosclerosis, autosomal dominant, Worth type" RELATED [GARD:0000390]
synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [Orphanet:2790]
synonym: "Worth syndrome" EXACT [Orphanet:2790]
xref: GARD:0000390 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.2 {source="ORDO:2790/attributed", source="ORDO:2790/ntbt", source="Orphanet:2790"}
xref: OMIM:144750 {source="MONDO:equivalentTo", source="ORDO:2790/e", source="Orphanet:2790"}
xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"}
is_a: MONDO:0019703 {source="Orphanet:2790"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/omim/144750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931308
property_value: exactMatch Orphanet:2790

[Term]
id: MONDO:0007765
name: hyperostosis cranialis interna (disease)
subset: ordo_disease {source="Orphanet:443098"}
synonym: "HCIN" RELATED [OMIM:144755]
synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755]
synonym: "hyperostosis cranialis interna; HCIN" RELATED [OMIM:144755]
xref: HP:0005890 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M85.2 {source="ORDO:443098/attributed", source="ORDO:443098/ntbt", source="Orphanet:443098"}
xref: MESH:C564168 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:144755 {source="MONDO:equivalentTo", source="ORDO:443098/e", source="Orphanet:443098"}
xref: Orphanet:443098 {source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:443098"} ! syndromic genetic deafness
is_a: MONDO:0019703 {source="Orphanet:443098"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840404
property_value: exactMatch http://identifiers.org/mesh/C564168
property_value: exactMatch http://identifiers.org/omim/144755
property_value: exactMatch Orphanet:443098

[Term]
id: MONDO:0007766
name: Morgagni-Stewart-Morel syndrome
def: "Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." [Orphanet:77296]
subset: gard_rare {source="GARD:0008593"}
subset: ordo_malformation_syndrome {source="Orphanet:77296"}
synonym: "hyperostosis frontalis interna" EXACT [OMIM:144800, Orphanet:77296]
synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impairment" RELATED [GARD:0008593]
synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800]
synonym: "MSM syndrome" RELATED [GARD:0008593]
xref: GARD:0008593 {source="MONDO:equivalentTo"}
xref: ICD10:M85.2 {source="ORDO:77296/ntbt", source="ORDO:77296/index", source="Orphanet:77296"}
xref: MESH:D006957 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84772 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:144800 {source="MONDO:equivalentTo", source="ORDO:77296/e", source="Orphanet:77296"}
xref: Orphanet:77296 {source="MONDO:equivalentTo", source="OMIM:144800"}
xref: SCTID:82054006 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
is_a: MONDO:0020018 {source="Orphanet:77296"} ! cranial malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020494
property_value: exactMatch http://identifiers.org/mesh/D006957
property_value: exactMatch http://identifiers.org/omim/144800
property_value: exactMatch http://identifiers.org/snomedct/82054006
property_value: exactMatch NCIT:C84772
property_value: exactMatch Orphanet:77296
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome xsd:anyURI {source="GARD:0008593"}

[Term]
id: MONDO:0007767
name: hyperparathyroidism 1
synonym: "HRPT1" RELATED [MONDO:Lexical, OMIM:145000]
synonym: "hyperparathyroidism 1" EXACT [MONDO:Lexical, OMIM:145000]
synonym: "hyperparathyroidism 1; HRPT1" RELATED [OMIM:145000]
synonym: "hyperparathyroidism type 1" EXACT [MONDORULE:1, OMIM:145000]
synonym: "hyperparathyroidism, familial isolated primary" RELATED [OMIM:145000]
synonym: "parathyroid adenoma, familial" RELATED [OMIM:145000]
xref: OMIM:145000 {source="MONDO:equivalentTo"}
xref: UMLS:C1840402 {source="OMIM:145000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015027 {source="ORDO:99879/btnt"} ! familial isolated hyperparathyroidism
property_value: exactMatch http://identifiers.org/omim/145000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840402

[Term]
id: MONDO:0007768
name: hyperparathyroidism-jaw tumor syndrome
def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:P378]
subset: gard_rare {source="GARD:0010829"}
subset: ordo_disease {source="Orphanet:99880"}
synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829]
synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829]
synonym: "HPT-JT" EXACT [NCIT:C48287, Orphanet:99880]
synonym: "HRPT2" RELATED [MONDO:Lexical, OMIM:145001]
synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical, OMIM:145001]
synonym: "hyperparathyroidism 2 with jaw tumors" RELATED [OMIM:145001]
synonym: "hyperparathyroidism 2 with jaw tumors; HRPT2" RELATED [OMIM:145001]
synonym: "hyperparathyroidism 2; HRPT2" RELATED [OMIM:145001]
synonym: "hyperparathyroidism type 2" EXACT [MONDORULE:1, OMIM:145001]
synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas" RELATED [OMIM:145001]
synonym: "hyperparathyroidism-2" EXACT [NCIT:C48287]
synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287]
synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:145001]
synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001]
xref: GARD:0010829 {source="MONDO:equivalentTo"}
xref: ICD10:E21.0 {source="ORDO:99880/attributed", source="ORDO:99880/ntbt", source="Orphanet:99880"}
xref: NCIT:C48287 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:145001 {source="MONDO:equivalentTo", source="ORDO:99880/e", source="Orphanet:99880"}
xref: Orphanet:99880 {source="MONDO:equivalentTo", source="OMIM:145001"}
xref: SCTID:702378002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1704981 {source="NCIT:C48287", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145001", source="Orphanet:99880"}
is_a: MONDO:0016365 {source="MONDOLEX:0007768", source="Orphanet:99880"} ! familial primary hyperparathyroidism
is_a: MONDO:0017891 {source="Orphanet:99880"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0021163 ! kidney neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840394
property_value: exactMatch http://identifiers.org/omim/145001
property_value: exactMatch http://identifiers.org/snomedct/702378002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704981
property_value: exactMatch NCIT:C48287
property_value: exactMatch Orphanet:99880
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome xsd:anyURI {source="GARD:0010829"}

[Term]
id: MONDO:0007769
name: hyperpigmentation of eyelid
def: "over-production of pigment in the eyelid" [EFO:1000711]
synonym: "dyspigmentation of eyelid" EXACT [DOID:10122]
synonym: "hyperpigmentation of eyelids" RELATED [OMIM:145100]
xref: COHD:440112 {source="MONDO:equivalentTo"}
xref: DOID:10122 {source="MONDO:equivalentTo", source="EFO:1000711"}
xref: EFO:1000711 {source="MONDO:equivalentTo"}
xref: ICD10:H02.71 {source="DOID:10122"}
xref: ICD9:374.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:10122"}
xref: MESH:C562400 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10122"}
xref: OMIM:145100 {source="MONDO:equivalentTo", source="DOID:10122"}
xref: SCTID:41115008 {source="MONDO:equivalentTo", source="DOID:10122", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145100", source="DOID:10122"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006600 {source="DOID:10122", source="EFO:1000711", source="MESH:C562400/inferred", source="linkedlifedata"} ! pigmentation disease
property_value: exactMatch DOID:10122
property_value: exactMatch http://identifiers.org/mesh/C562400
property_value: exactMatch http://identifiers.org/omim/145100
property_value: exactMatch http://identifiers.org/snomedct/41115008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155211

[Term]
id: MONDO:0007770
name: hyperpigmentation of Fuldauer and Kuijpers
synonym: "hyperpigmentation of Fuldauer and Kuijpers" EXACT [OMIM:145200]
xref: MESH:C564164 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145200 {source="MONDO:equivalentTo"}
xref: UMLS:C1840393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564164
property_value: exactMatch http://identifiers.org/omim/145200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840393

[Term]
id: MONDO:0007771
name: hyperpigmentation with or without hypopigmentation, familial progressive
synonym: "FPHH" RELATED [MONDO:Lexical, OMIM:145250]
synonym: "hyperpigmentation with or without hypopigmentation, familial progressive" EXACT [MONDO:Lexical, OMIM:145250]
synonym: "hyperpigmentation with or without hypopigmentation, familial progressive; FPHH" RELATED [OMIM:145250]
synonym: "hyperpigmentation, familial progressive, 2" RELATED [OMIM:145250]
synonym: "hyperpigmentation, familial progressive, 2, formerly" RELATED [OMIM:145250]
synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT [OMIM:145250]
synonym: "melanosis universalis hereditaria" RELATED [OMIM:145250]
synonym: "melanosis, universal" EXACT [OMIM:145250]
xref: OMIM:145250 {source="MONDO:equivalentTo"}
xref: UMLS:C1835039 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0013648 {source="ORDO:79146/btnt"} ! familial progressive hyperpigmentation
property_value: exactMatch http://identifiers.org/omim/145250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835039

[Term]
id: MONDO:0007772
name: pseudohypoaldosteronism type 2A
subset: ordo_etiological_subtype {source="Orphanet:88938"}
synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [OMIM:145260]
synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260]
synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260]
synonym: "PHA2A" EXACT [MONDO:Lexical, OMIM:145260, Orphanet:88938]
synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260]
synonym: "pseudohypoaldosteronism, type IIA; PHA2A" RELATED [OMIM:145260]
xref: ICD10:I15.1 {source="ORDO:88938/attributed", source="ORDO:88938/ntbt", source="Orphanet:88938"}
xref: OMIM:145260 {source="MONDO:equivalentTo", source="ORDO:88938/e", source="Orphanet:88938"}
xref: Orphanet:88938 {source="OMIM:145260", source="MONDO:equivalentTo"}
xref: SCTID:703254001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.06"}
xref: UMLS:C1840389 {source="OMIM:145260", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:88938"}
is_a: MONDO:0019162 {source="MONDOLEX:0007772", source="OMIM:145260", source="Orphanet:88938"} ! pseudohypoaldosteronism type 2
property_value: exactMatch http://identifiers.org/omim/145260
property_value: exactMatch http://identifiers.org/snomedct/703254001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840389
property_value: exactMatch Orphanet:88938

[Term]
id: MONDO:0007773
name: hyperproglucagonemia
synonym: "glucagon, large molecular weight species of" RELATED [OMIM:145270]
synonym: "hyperproglucagonemia" EXACT [OMIM:145270]
xref: MESH:C564159 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145270 {source="MONDO:equivalentTo"}
xref: UMLS:C1840388 {source="OMIM:145270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564159/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564159
property_value: exactMatch http://identifiers.org/omim/145270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840388

[Term]
id: MONDO:0007774
name: hyperreflexia (disease)
def: "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." [MESH:D012021]
synonym: "HRX" RELATED [MONDO:Lexical, OMIM:145290]
synonym: "hyperreflexia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:145290]
synonym: "hyperreflexia; HRX" RELATED [OMIM:145290]
xref: HP:0001347 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D012021 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151889
property_value: exactMatch http://identifiers.org/mesh/D012021
property_value: exactMatch http://identifiers.org/omim/145290

[Term]
id: MONDO:0007775
name: hypersecretion of adrenal androgens, familial
subset: gard_rare {source="GARD:0009593"}
synonym: "familial hypersecretion of adrenal androgens" RELATED [GARD:0009593]
synonym: "hypersecretion of adrenal androgens, familial" EXACT [OMIM:145295]
xref: GARD:0009593 {source="MONDO:equivalentTo"}
xref: MESH:C536845 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145295 {source="MONDO:equivalentTo"}
xref: UMLS:C1840387 {source="OMIM:145295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536845
property_value: exactMatch http://identifiers.org/omim/145295
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840387
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens xsd:anyURI {source="GARD:0009593"}

[Term]
id: MONDO:0007776
name: hypersensitivity pneumonitis, familial
def: "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary hypersensitivity pneumonitis" EXACT [MONDO:patterns/hereditary]
synonym: "hypersensitivity pneumonitis, familial" EXACT [OMIM:145300]
xref: MESH:C536846 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145300 {source="MONDO:equivalentTo"}
xref: UMLS:C1840386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145300"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020536 {source="ORDO:99908/btnt"} ! pigeon-breeder lung disease
intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C536846
property_value: exactMatch http://identifiers.org/omim/145300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840386

[Term]
id: MONDO:0007777
name: hypertaurinuric cardiomyopathy
synonym: "hypertaurinuric cardiomyopathy" EXACT [OMIM:145350]
xref: MESH:C564157 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145350 {source="MONDO:equivalentTo"}
xref: UMLS:C1840385 {source="OMIM:145350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564157/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564157
property_value: exactMatch http://identifiers.org/omim/145350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840385

[Term]
id: MONDO:0007778
name: hypertelorism (disease)
def: "A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." [NCIT:C34715]
synonym: "hypertelorism" EXACT [MONDO:ambiguous, OMIM:145400]
synonym: "hypertelorism of orbit" EXACT [NCIT:C34715]
xref: HP:0000316 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:376.41 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006972 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34715 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:145400 {source="MONDO:equivalentTo"}
xref: SCTID:22006008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020534
property_value: exactMatch http://identifiers.org/mesh/D006972
property_value: exactMatch http://identifiers.org/omim/145400
property_value: exactMatch http://identifiers.org/snomedct/22006008
property_value: exactMatch NCIT:C34715

[Term]
id: MONDO:0007779
name: autosomal dominant Opitz G/BBB syndrome
def: "Autosomal dominant form of Opitz G/BBB syndrome." [MONDO:patterns/autosomal_dominant]
subset: ordo_etiological_subtype {source="Orphanet:306588"}
synonym: "ADOS" EXACT [Orphanet:306588]
synonym: "autosomal dominant Opitz BBB/G syndrome" EXACT [Orphanet:306588]
synonym: "autosomal dominant Opitz syndrome" EXACT [Orphanet:306588]
synonym: "BBB syndrome" RELATED [OMIM:145410]
synonym: "chromosome 22Q11.2 deletion syndrome, Opitz phenotype" RELATED [OMIM:145410]
synonym: "G syndrome" RELATED [OMIM:145410]
synonym: "GBBB syndrome" RELATED [OMIM:145410]
synonym: "GBBB2" RELATED [MONDO:Lexical, OMIM:145410]
synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:145410]
synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:145410]
synonym: "hypospadias-dysphagia syndrome" RELATED [OMIM:145410]
synonym: "Opitz Bbbg syndrome" RELATED [OMIM:145410]
synonym: "Opitz G/BBB syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [OMIM:145410]
synonym: "Opitz GBBB syndrome, type 2" RELATED [OMIM:145410]
synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical, OMIM:145410]
synonym: "Opitz GBBB syndrome, type II; GBBB2" RELATED [OMIM:145410]
synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410]
synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410]
synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410]
synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410]
synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:145410]
xref: ICD10:Q87.8 {source="ORDO:306588/attributed", source="ORDO:306588/ntbt", source="Orphanet:306588"}
xref: OMIM:145410 {source="MONDO:equivalentTo", source="ORDO:306588/e", source="Orphanet:306588"}
xref: Orphanet:306588 {source="MONDO:equivalentTo", source="OMIM:145410"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017138 {source="DC-OMIM:145410", source="MONDO:Redundant", source="MONDOLEX:0007779", source="OMIM:145410", source="Orphanet:306588"} ! Opitz G/BBB syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1801950
property_value: exactMatch http://identifiers.org/omim/145410
property_value: exactMatch Orphanet:306588

[Term]
id: MONDO:0007780
name: hypertelorism, Teebi type
def: "Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms)." [Orphanet:1519]
subset: ordo_malformation_syndrome {source="Orphanet:1519"}
synonym: "Brachycephalofrontonasal dysplasia" EXACT [OMIM:145420, Orphanet:1519]
synonym: "craniofrontonasal dysplasia, Teebi type" EXACT [Orphanet:1519]
synonym: "hypertelorism, Teebi type" EXACT [OMIM:145420]
synonym: "Teebi hypertelorism syndrome" EXACT [Orphanet:1519]
synonym: "Teebi syndrome" EXACT [Orphanet:1519]
xref: GARD:0000957 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:1519/attributed", source="ORDO:1519/ntbt", source="Orphanet:1519"}
xref: OMIM:145420 {source="MONDO:equivalentTo", source="ORDO:1519/e", source="Orphanet:1519"}
xref: Orphanet:1519 {source="MONDO:equivalentTo", source="OMIM:145420"}
xref: SCTID:724284005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796179 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN199596 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016643 {source="Orphanet:1519"} ! frontonasal dysplasia
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1519"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840378
property_value: exactMatch http://identifiers.org/omim/145420
property_value: exactMatch http://identifiers.org/snomedct/724284005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199596
property_value: exactMatch Orphanet:1519

[Term]
id: MONDO:0007781
name: essential hypertension, genetic
def: "An instance of essential hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "Eht" RELATED [OMIM:145500]
synonym: "genetic essential hypertension" EXACT [MONDO:patterns/genetic]
synonym: "hypertension, essential" RELATED [OMIM:145500]
xref: OMIM:145500 {source="MONDO:equivalentTo"}
is_a: MONDO:0001134 {source="DC-OMIM:145500", source="MONDO:Redundant", source="MONDOLEX:0007781"} ! essential hypertension
is_a: MONDO:0015512 ! genetic hypertension
intersection_of: MONDO:0001134 ! essential hypertension
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch Orphanet:243761
property_value: exactMatch http://identifiers.org/omim/145500

[Term]
id: MONDO:0007782
name: hyperthermia, cutaneous, with headaches and nausea
synonym: "farmer syndrome" RELATED [OMIM:145590]
synonym: "hyperthermia, cutaneous, with headaches and nausea" EXACT [OMIM:145590]
xref: MESH:C564156 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145590 {source="MONDO:equivalentTo"}
xref: UMLS:C1840373 {source="OMIM:145590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564156
property_value: exactMatch http://identifiers.org/omim/145590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840373

[Term]
id: MONDO:0007783
name: malignant hyperthermia, susceptibility to, 1
def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
subset: predisposition
synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363, OMIM:145600]
synonym: "hyperpyrexia, malignant;MH KING syndrome, included" RELATED [MESH:C535694]
synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694, OMIM:145600]
synonym: "King syndrome" RELATED [OMIM:145600]
synonym: "King-Denborough syndrome" RELATED [OMIM:145600]
synonym: "King-Denborough syndrome, included" RELATED [MESH:C535694]
synonym: "malignant hyperthermia of anesthesia caused by mutation in RYR1" EXACT [MONDO:design_pattern]
synonym: "malignant hyperthermia susceptibility type 1" RELATED [GARD:0003363]
synonym: "malignant hyperthermia, susceptibility to, 1" EXACT [MESH:C535694, MONDO:Lexical, OMIM:145600]
synonym: "malignant hyperthermia, susceptibility to, 1; MHS1" RELATED [OMIM:145600]
synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:145600]
synonym: "MHS" RELATED [GARD:0003363, MESH:C535694, OMIM:145600]
synonym: "MHS1" RELATED [GARD:0003363, MESH:C535694, MONDO:Lexical, OMIM:145600]
synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600]
xref: EFO:0009071 {source="MONDO:equivalentTo"}
xref: GARD:0003363 {source="MONDO:equivalentTo"}
xref: MESH:C535694 {source="MONDO:equivalentTo"}
xref: OMIM:145600 {source="MONDO:equivalentTo", source="GARD:0003363"}
xref: UMLS:CN031421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018493 ! malignant hyperthermia of anesthesia
relationship: excluded_subClassOf MONDO:0018493 {source="DC-OMIM:145600", source="EFO:0009071", source="MESH:C535694", source="MONDO:Redundant", source="MONDOLEX:0007783", source="OMIM:145600"} ! malignant hyperthermia of anesthesia
property_value: exactMatch http://identifiers.org/mesh/C535694
property_value: exactMatch http://identifiers.org/omim/145600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031421
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 xsd:anyURI {source="GARD:0003363"}

[Term]
id: MONDO:0007784
name: selective pituitary resistance to thyroid hormone
def: "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." [Orphanet:165994]
subset: ordo_disease {source="Orphanet:165994"}
synonym: "hyperthyroidism, familial, due to inappropriate thyrotropin secretion" RELATED [OMIM:145650]
synonym: "pituitary resistance to thyroid hormone" RELATED [Orphanet:165994]
synonym: "PRTH" EXACT [MONDO:Lexical, OMIM:145650, PMID:8475937]
synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650]
synonym: "thyroid hormone resistance, selective pituitary; PRTH" RELATED [OMIM:145650]
xref: ICD10:E05.8 {source="ORDO:165994/attributed", source="ORDO:165994/ntbt", source="Orphanet:165994"}
xref: MESH:C564154 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145650 {source="ORDO:165994/e", source="MONDO:equivalentTo", source="Orphanet:165994"}
xref: Orphanet:165994 {source="MONDO:equivalentTo", source="OMIM:145650"}
xref: UMLS:C1840364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145650", source="Orphanet:165994"}
is_a: MONDO:0004425 {source="Orphanet:165994"} ! hyperthyroidism
is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
relationship: has_modifier MONDO:0021136 {source="MONDO:0015894"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C564154
property_value: exactMatch http://identifiers.org/omim/145650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840364
property_value: exactMatch Orphanet:165994

[Term]
id: MONDO:0007785
name: hyperthyroxinemia, dystransthyretinemic
synonym: "DTTRH" RELATED [MONDO:Lexical, OMIM:145680]
synonym: "dystransthyretinemic Euthyroidal hyperthyroxinemia" RELATED [OMIM:145680]
synonym: "dystransthyretinemic hyperthyroxinemia" RELATED [DOID:0080219]
synonym: "Euthryroidal hyperthyroxinemia 2" RELATED [OMIM:145680]
synonym: "hyperthyroxinemia, Dysprealbuminemic" RELATED [OMIM:145680]
synonym: "hyperthyroxinemia, dystransthyretinemic" EXACT [MONDO:Lexical, OMIM:145680]
synonym: "hyperthyroxinemia, dystransthyretinemic; DTTRH" RELATED [OMIM:145680]
xref: DOID:0080219 {source="MONDO:equivalentTo"}
xref: MESH:C567719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145680 {source="MONDO:equivalentTo", source="DOID:0080219"}
xref: UMLS:C2750824 {source="OMIM:145680", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005333 {source="DOID:0080219", source="MESH:C567719"} ! hyperthyroxinemia
property_value: exactMatch DOID:0080219
property_value: exactMatch http://identifiers.org/mesh/C567719
property_value: exactMatch http://identifiers.org/omim/145680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750824

[Term]
id: MONDO:0007786
name: obsolete hypertrichosis lanuginosa congenita
is_obsolete: true
replaced_by: MONDO:0016381

[Term]
id: MONDO:0007787
name: Ambras type hypertrichosis universalis congenita
def: "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." [Orphanet:1023]
subset: ordo_clinical_subtype {source="Orphanet:1023"}
synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023]
synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [Orphanet:1023]
synonym: "HTC 1" RELATED [GARD:0008206]
synonym: "HTC1" EXACT [DOID:0111060, MONDO:Lexical, OMIM:145701]
synonym: "hypertrichosis universalis congenita Ambras type" RELATED [GARD:0008206]
synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical, OMIM:145701]
synonym: "hypertrichosis universalis congenita, Ambras type; HTC1" RELATED [OMIM:145701]
synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701]
xref: DOID:0111060 {source="MONDO:equivalentTo"}
xref: GARD:0008206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q84.2 {source="Orphanet:1023", source="DOID:0111060", source="ORDO:1023/attributed", source="ORDO:1023/ntbt"}
xref: OMIM:145701 {source="ORDO:1023/e", source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo"}
xref: Orphanet:1023 {source="DOID:0111060", source="MONDO:equivalentTo", source="OMIM:145701"}
xref: UMLS:C1840362 {source="Orphanet:1023", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145701", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016381 {source="Orphanet:1023"} ! hypertrichosis lanuginosa congenita
property_value: exactMatch DOID:0111060
property_value: exactMatch http://identifiers.org/mesh/C536605
property_value: exactMatch http://identifiers.org/omim/145701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840362
property_value: exactMatch Orphanet:1023

[Term]
id: MONDO:0007788
name: hypertriglyceridemia, familial
def: "An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary hypertriglyceridemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "hypertriglyceridemia, familial" EXACT [OMIM:145750]
xref: OMIM:145750 {source="MONDO:equivalentTo"}
xref: SCTID:34528009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.66/0.29/0.10"}
is_a: MONDO:0001336 ! familial hyperlipidemia
is_a: MONDO:0005347 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertriglyceridemia (disease)
is_a: MONDO:0015902 {source="MONDO:cjm"} ! major hypertriglyceridemia
intersection_of: MONDO:0005347 ! hypertriglyceridemia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020480
property_value: closeMatch Orphanet:413
property_value: exactMatch http://identifiers.org/omim/145750
property_value: exactMatch http://identifiers.org/snomedct/34528009

[Term]
id: MONDO:0007789
name: hypertrophia musculorum vera
synonym: "hypertrophia musculorum vera" EXACT [OMIM:145800]
xref: MESH:C564152 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145800 {source="MONDO:equivalentTo"}
xref: UMLS:C1840361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564152
property_value: exactMatch http://identifiers.org/omim/145800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840361

[Term]
id: MONDO:0007790
name: Charcot-Marie-Tooth disease type 3
comment: Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit
subset: ordo_disease {source="Orphanet:64748"}
synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748]
synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087]
synonym: "CMT3" EXACT [NCIT:C133087]
synonym: "Dejerine-Sottas neuropathy" EXACT [DOID:0050540, NCIT:C133087]
synonym: "Dejerine-Sottas syndrome" EXACT [DOID:0050540]
synonym: "DSN" RELATED [GARD:0009204]
synonym: "hereditary motor and sensory neuropathy 3" RELATED [GARD:0009204]
synonym: "hereditary motor and sensory neuropathy type 3" EXACT [OMIM:145900, Orphanet:64748]
synonym: "hereditary motor and sensory neuropathy type III" EXACT [NCIT:C133087, Orphanet:64748]
synonym: "HMSN 3" EXACT [Orphanet:64748]
synonym: "HMSN III" EXACT [Orphanet:64748]
synonym: "HMSN3" EXACT [NCIT:C133087]
synonym: "hypertrophic neuropathy of Dejerine-Sottas" EXACT [NCIT:C133087, OMIM:145900]
synonym: "hypertrophic neuropathy of infancy" RELATED [GARD:0009204]
xref: DOID:0050540 {source="MONDO:equivalentTo"}
xref: GARD:0009204 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:64748/attributed", source="ORDO:64748/ntbt", source="Orphanet:64748"}
xref: NCIT:C133087 {source="MONDO:equivalentTo"}
xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="ORDO:64748/e", source="Orphanet:64748"}
xref: Orphanet:64748 {source="MONDO:equivalentTo", source="OMIM:145900"}
xref: SCTID:111499002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.89"}
xref: UMLS:C0011195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133087", source="ORDO:64748/e", source="Orphanet:64748", source="OMIM:145900"}
is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0015359 {source="Orphanet:64748"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0015361 {source="Orphanet:64748"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch DOID:0050540
property_value: exactMatch http://identifiers.org/mesh/C538392
property_value: exactMatch http://identifiers.org/omim/145900
property_value: exactMatch http://identifiers.org/snomedct/111499002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011195
property_value: exactMatch NCIT:C133087
property_value: exactMatch Orphanet:64748

[Term]
id: MONDO:0007791
name: familial hypocalciuric hypercalcemia 1
def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:93372"}
synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700, OMIM:145980]
synonym: "familial benign hypercalcemia type 1" RELATED [GARD:0002796]
synonym: "familial hypocalciuric hypercalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [DOID:0060700, MONDORULE:1]
synonym: "familial hypocalciuric hypercalcemia type I" EXACT [DOID:0060700]
synonym: "FBH1" RELATED [GARD:0002796]
synonym: "FHH type 1" EXACT [DOID:0060700, Orphanet:93372]
synonym: "Fhh1" RELATED [OMIM:145980]
synonym: "HHC1" EXACT [DOID:0060700, MONDO:Lexical, OMIM:145980]
synonym: "hypercalcemia, familial benign" RELATED [OMIM:145980]
synonym: "hypercalcemia, familial benign type 1" RELATED [GARD:0002796]
synonym: "hypocalciuric hypercalcemia type I" EXACT [DOID:0060700]
synonym: "hypocalciuric hypercalcemia, acquired" RELATED [OMIM:145980]
synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, OMIM:145980]
synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980]
synonym: "hypocalciuric hypercalcemia, familial, type I; HHC1" RELATED [OMIM:145980]
xref: DOID:0060700 {source="MONDO:equivalentTo"}
xref: GARD:0002796 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.5 {source="Orphanet:93372", source="DOID:0060700", source="ORDO:93372/attributed", source="ORDO:93372/ntbt"}
xref: MedDRA:10068704 {source="Orphanet:93372", source="ORDO:93372/e"}
xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="ORDO:93372/e"}
xref: OMIM:145980 {source="Orphanet:93372", source="MONDO:equivalentTo", source="DOID:0060700", source="ORDO:93372/e"}
xref: Orphanet:93372 {source="MONDO:equivalentTo", source="OMIM:145980", source="DOID:0060700"}
xref: SCTID:704166007 {source="MONDO:kboom-pr-0.66/0.30/0.12", source="MONDO:equivalentTo"}
is_a: MONDO:0018458 {source="DC-OMIM:145980", source="DOID:0060700", source="MONDO:Redundant", source="MONDOLEX:0007791", source="OMIM:145980", source="Orphanet:93372"} ! familial hypocalciuric hypercalcemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840348
property_value: exactMatch DOID:0060700
property_value: exactMatch http://identifiers.org/meddra/10068704
property_value: exactMatch http://identifiers.org/mesh/C537145
property_value: exactMatch http://identifiers.org/omim/145980
property_value: exactMatch http://identifiers.org/snomedct/704166007
property_value: exactMatch Orphanet:93372

[Term]
id: MONDO:0007792
name: familial hypocalciuric hypercalcemia 2
def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0060701, PMID:23802516]
subset: ordo_etiological_subtype {source="Orphanet:101049"}
synonym: "familial benign hypercalcemia, type 2" RELATED [OMIM:145981]
synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1]
synonym: "FBH2" RELATED [GARD:0009758]
synonym: "FHH type 2" EXACT [DOID:0060701, Orphanet:101049]
synonym: "HHC2" EXACT [DOID:0060701, MONDO:Lexical, OMIM:145981]
synonym: "hypercalcemia, familial benign type 2" RELATED [GARD:0009758]
synonym: "hypercalcemia, familial benign, type 2" RELATED [OMIM:145981]
synonym: "hypocalciuric hypercalcemia type II" EXACT [DOID:0060701]
synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, OMIM:145981]
synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981]
synonym: "hypocalciuric hypercalcemia, familial, type II; HHC2" RELATED [OMIM:145981]
xref: DOID:0060701 {source="MONDO:equivalentTo"}
xref: GARD:0009758 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.5 {source="Orphanet:101049", source="ORDO:101049/attributed", source="ORDO:101049/ntbt", source="DOID:0060701"}
xref: MESH:C537146 {source="Orphanet:101049", source="ORDO:101049/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145981 {source="Orphanet:101049", source="ORDO:101049/e", source="MONDO:equivalentTo", source="DOID:0060701"}
xref: Orphanet:101049 {source="MONDO:equivalentTo", source="OMIM:145981", source="DOID:0060701"}
xref: UMLS:C1840347 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:101049", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145981"}
is_a: MONDO:0018458 {source="DC-OMIM:145981", source="DOID:0060701", source="MONDOLEX:0007792", source="OMIM:145981", source="Orphanet:101049"} ! familial hypocalciuric hypercalcemia
property_value: exactMatch DOID:0060701
property_value: exactMatch http://identifiers.org/mesh/C537146
property_value: exactMatch http://identifiers.org/omim/145981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931427
property_value: exactMatch Orphanet:101049

[Term]
id: MONDO:0007793
name: hypochondroplasia
def: "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." [Orphanet:429]
subset: gard_rare {source="GARD:0006724"}
subset: ordo_disease {source="Orphanet:429"}
synonym: "HCH" RELATED [MONDO:Lexical, OMIM:146000]
synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000]
synonym: "hypochondroplasia; HCH" RELATED [OMIM:146000]
xref: DOID:0080041 {source="MONDO:equivalentTo"}
xref: GARD:0006724 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.4 {source="ORDO:429/ntbt", source="Orphanet:429", source="ORDO:429/inclusion", source="MONDO:directSiblingOf"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10020967 {source="ORDO:429/e", source="Orphanet:429"}
xref: MESH:C562937 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118697 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:146000 {source="ORDO:429/e", source="MONDO:equivalentTo", source="Orphanet:429"}
xref: Orphanet:429 {source="OMIM:146000", source="MONDO:equivalentTo"}
xref: SCTID:205468002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0410529 {source="NCBI:mim2gene_medline", source="NCIT:C118697", source="OMIM:146000", source="ORDO:429/e", source="MONDO:equivalentTo", source="Orphanet:429"}
is_a: MONDO:0005516 {source="DOID:0080041", source="NCIT:C118697"} ! osteochondrodysplasia
is_a: MONDO:0018232 {source="Orphanet:429"} ! primary bone dysplasia with micromelia
is_a: MONDO:0019685 {source="Orphanet:429"} ! FGFR3-related chondrodysplasia
property_value: exactMatch DOID:0080041
property_value: exactMatch http://identifiers.org/meddra/10020967
property_value: exactMatch http://identifiers.org/mesh/C562937
property_value: exactMatch http://identifiers.org/omim/146000
property_value: exactMatch http://identifiers.org/snomedct/205468002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410529
property_value: exactMatch NCIT:C118697
property_value: exactMatch Orphanet:429
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia xsd:anyURI {source="GARD:0006724"}

[Term]
id: MONDO:0007794
name: hypogonadotropic hypogonadism 7 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." [DOID:0090078, PMID:17235395, PMID:9371856]
synonym: "HH7" RELATED [MONDO:Lexical, OMIM:146110]
synonym: "hypogonadism, isolated hypogonadotropic" RELATED [OMIM:146110]
synonym: "hypogonadotropic hypogonadism 7 with or without anosmia" EXACT [MONDO:Lexical, OMIM:146110]
synonym: "hypogonadotropic hypogonadism 7 with or without anosmia; HH7" RELATED [OMIM:146110]
synonym: "idiopathic hypogonadotropic hypogonadism" RELATED [OMIM:146110]
xref: DOID:0090078 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090078"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:146110 {source="DOID:0090078", source="MONDO:equivalentTo"}
xref: SCTID:123953004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.72"}
is_a: MONDO:0013926 ! hypogonadotropic hypogonadism 14 with or without anosmia
is_a: MONDO:0014102 ! hypogonadotropic hypogonadism 17 with or without anosmia
is_a: MONDO:0014103 ! hypogonadotropic hypogonadism 18 with or without anosmia
is_a: MONDO:0014105 ! hypogonadotropic hypogonadism 19 with or without anosmia
is_a: MONDO:0014106 ! hypogonadotropic hypogonadism 20 with or without anosmia
is_a: MONDO:0014107 ! hypogonadotropic hypogonadism 21 with or without anosmia
is_a: MONDO:0014461 ! hypogonadotropic hypogonadism 22 with or without anosmia
is_a: MONDO:0015890 ! rare disorder with congenital hypogonadotropic hypogonadism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271623
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342384
property_value: exactMatch DOID:0090078
property_value: exactMatch http://identifiers.org/omim/146110
property_value: exactMatch http://identifiers.org/snomedct/123953004

[Term]
id: MONDO:0007795
name: mullerian duct anomalies-limb anomalies syndrome
def: "Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." [Orphanet:2491]
subset: ordo_malformation_syndrome {source="Orphanet:2491"}
synonym: "hypomelia mullerian duct anomalies" RELATED [GARD:0002908]
synonym: "hypomelia with mullerian duct anomalies" RELATED [OMIM:146160]
synonym: "limb uterus syndrome" RELATED [GARD:0002908]
synonym: "limb-uterus syndrome" RELATED [OMIM:146160]
synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491]
synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908]
xref: GARD:0002908 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2491/attributed", source="ORDO:2491/ntbt", source="Orphanet:2491"}
xref: MESH:C537155 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146160 {source="MONDO:equivalentTo", source="ORDO:2491/e", source="Orphanet:2491"}
xref: Orphanet:2491 {source="MONDO:equivalentTo", source="OMIM:146160"}
xref: UMLS:C1840335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2491/e", source="Orphanet:2491", source="OMIM:146160", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0015620 {source="Orphanet:2491"} ! syndromic urogenital tract malformation
is_a: MONDO:0015846 {source="Orphanet:2491"} ! syndromic uterovaginal malformation
is_a: MONDO:0043008 {source="Orphanet:2491"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537155
property_value: exactMatch http://identifiers.org/omim/146160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840335
property_value: exactMatch Orphanet:2491

[Term]
id: MONDO:0007796
name: hypoparathyroidism, familial isolated 1
subset: gard_rare
synonym: "FIH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146200]
synonym: "hypoparathyroidism familial isolated" RELATED [GARD:0002910]
synonym: "hypoparathyroidism, autosomal dominant" RELATED [OMIM:146200]
synonym: "hypoparathyroidism, autosomal recessive" RELATED [OMIM:146200]
synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200]
synonym: "hypoparathyroidism, familial isolated 1; FIH1" EXACT [MONDOLEX:0007796, OMIM:146200]
synonym: "hypoparathyroidism, familial isolated; FIH" BROAD [OMIM:146200]
xref: OMIM:146200 {source="GARD:0002910", source="MONDO:equivalentTo"}
xref: SCTID:237657009 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0016390 {source="ORDO:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial isolated hypoparathyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342345
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840334
property_value: exactMatch http://identifiers.org/omim/146200
property_value: exactMatch http://identifiers.org/snomedct/237657009

[Term]
id: MONDO:0007797
name: hypoparathyroidism-deafness-renal disease syndrome
def: "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." [Orphanet:2237]
subset: ordo_malformation_syndrome {source="Orphanet:2237"}
synonym: "Barakat syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237]
synonym: "HDR" RELATED [MONDO:Lexical, OMIM:146255]
synonym: "HDR syndrome" EXACT [DOID:0060878, Orphanet:2237]
synonym: "hypoparathyroidism, deafness, and renal anomalies syndrome" EXACT [NCIT:C130983]
synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [DOID:0060878, MONDO:Lexical, OMIM:146255]
synonym: "hypoparathyroidism, sensorineural deafness, and renal disease; HDR" RELATED [OMIM:146255]
synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia" RELATED [GARD:0002911]
synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" RELATED [OMIM:146255]
synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255]
xref: DOID:0060878 {source="MONDO:equivalentTo"}
xref: GARD:0002911 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2237/attributed", source="ORDO:2237/ntbt", source="Orphanet:2237", source="DOID:0060878"}
xref: MESH:C537907 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C130983 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:146255 {source="ORDO:2237/e", source="MONDO:equivalentTo", source="Orphanet:2237", source="DOID:0060878"}
xref: Orphanet:2237 {source="MONDO:equivalentTo", source="OMIM:146255", source="DOID:0060878"}
xref: SCTID:724282009 {source="MONDO:equivalentTo"}
xref: UMLS:C1840333 {source="ORDO:2237/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146255", source="Orphanet:2237", source="DOID:0060878", source="NCIT:C130983"}
is_a: MONDO:0000761 {source="DOID:0060878"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015895 {source="Orphanet:2237"} ! syndrome with hypoparathyroidism
is_a: MONDO:0016892 {source="Orphanet:2237"} ! partial deletion of the short arm of chromosome 10
is_a: MONDO:0019589 {source="Orphanet:2237"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2237"} ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0060878
property_value: exactMatch http://identifiers.org/mesh/C537907
property_value: exactMatch http://identifiers.org/omim/146255
property_value: exactMatch http://identifiers.org/snomedct/724282009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840333
property_value: exactMatch NCIT:C130983
property_value: exactMatch Orphanet:2237

[Term]
id: MONDO:0007798
name: adult hypophosphatasia
def: "adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia (see this term) characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." [Orphanet:247676]
subset: ordo_clinical_subtype {source="Orphanet:247676"}
synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676]
synonym: "adult Rathburn disease" EXACT [Orphanet:247676]
synonym: "hypophosphatasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "hypophosphatasia, ADULT" RELATED [OMIM:146300]
synonym: "hypophosphatasia, mild" RELATED [OMIM:146300]
synonym: "mild hypophosphatasia" EXACT [DOID:0110913]
synonym: "odontohypophosphatasia" RELATED [OMIM:146300]
xref: DOID:0110913 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="Orphanet:247676", source="ORDO:247676/attributed", source="ORDO:247676/ntbt"}
xref: OMIM:146300 {source="ORDO:247676/e", source="Orphanet:247676", source="MONDO:equivalentTo", source="DOID:0110913"}
xref: Orphanet:247676 {source="MONDO:equivalentTo", source="OMIM:146300", source="DOID:0110913"}
xref: SCTID:20756002 {source="MONDO:kboom-pr-0.89/0.76/0.25", source="MONDO:equivalentTo"}
xref: UMLS:C0268413 {source="ORDO:247676/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:247676", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146300"}
is_a: MONDO:0018570 {source="DC-OMIM:146300", source="DOID:0110913", source="MONDO:Redundant", source="Orphanet:247676"} ! hypophosphatasia
is_a: MONDO:0020014 {source="Orphanet:247676"} ! rare disease with odontological manifestation
property_value: exactMatch DOID:0110913
property_value: exactMatch http://identifiers.org/omim/146300
property_value: exactMatch http://identifiers.org/snomedct/20756002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268413
property_value: exactMatch Orphanet:247676

[Term]
id: MONDO:0007799
name: hypophosphatemic bone disease
synonym: "HBD" RELATED [MONDO:Lexical, OMIM:146350]
synonym: "hypophosphatemic bone disease" EXACT [MONDO:Lexical, OMIM:146350]
synonym: "hypophosphatemic bone disease; HBD" RELATED [OMIM:146350]
xref: MESH:C564145 {source="MONDO:equivalentTo"}
xref: OMIM:146350 {source="MONDO:equivalentTo"}
xref: UMLS:C1840321 {source="OMIM:146350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564145
property_value: exactMatch http://identifiers.org/omim/146350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840321

[Term]
id: MONDO:0007800
name: chromosome 18p deletion syndrome
def: "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." [Orphanet:1598]
subset: ordo_disease {source="Orphanet:1598"}
synonym: "18P syndrome" EXACT [NCIT:C84521]
synonym: "18p-" RELATED [GARD:0008631]
synonym: "18P- syndrome" RELATED [OMIM:146390]
synonym: "18p- syndrome" EXACT [DOID:0060406, Orphanet:1598]
synonym: "chromosome 18p deletion" RELATED [GARD:0008631]
synonym: "chromosome 18p deletion syndrome" EXACT [OMIM:146390]
synonym: "De Grouchy syndrome" EXACT [DOID:0060406, Orphanet:1598]
synonym: "deletion 18p syndrome" EXACT [NCIT:C84521]
synonym: "monosomy 18p" EXACT [DOID:0060406]
synonym: "monosomy type 18p" EXACT [MONDORULE:4, Orphanet:1598]
xref: DOID:0060406 {source="MONDO:equivalentTo"}
xref: GARD:0008631 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:1598", source="ORDO:1598/attributed", source="ORDO:1598/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538309 {source="MONDO:equivalentTo", source="DOID:0060406", source="MONDO:ontobio"}
xref: NCIT:C84521 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46", source="DOID:0060406"}
xref: OMIM:146390 {source="Orphanet:1598", source="ORDO:1598/e", source="MONDO:equivalentTo", source="DOID:0060406"}
xref: Orphanet:1598 {source="MONDO:equivalentTo", source="DOID:0060406", source="OMIM:146390"}
xref: SCTID:270890001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.70", source="DOID:0060406"}
xref: UMLS:C0432442 {source="Orphanet:1598", source="NCBI:mim2gene_medline", source="ORDO:1598/e", source="MONDO:equivalentTo", source="DOID:0060406", source="NCIT:C84521", source="OMIM:146390"}
is_a: MONDO:0000761 {source="DC-OMIM:146390", source="DOID:0060406"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84521", source="indirect"} ! syndromic disease
is_a: MONDO:0016896 {source="Orphanet:1598"} ! partial deletion of the short arm of chromosome 18
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1598"} ! chromosomal anomaly with cataract
property_value: closeMatch http://identifiers.org/snomedct/205631008
property_value: closeMatch http://identifiers.org/snomedct/205632001
property_value: exactMatch DOID:0060406
property_value: exactMatch http://identifiers.org/mesh/C538309
property_value: exactMatch http://identifiers.org/omim/146390
property_value: exactMatch http://identifiers.org/snomedct/270890001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432442
property_value: exactMatch NCIT:C84521
property_value: exactMatch Orphanet:1598

[Term]
id: MONDO:0007801
name: obsolete hypoplasia of teeth roots
synonym: "hypoplasia of teeth roots" RELATED [OMIM:146400]
xref: MESH:C564144 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: OMIM:146400 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840317
property_value: exactMatch http://identifiers.org/mesh/C564144
property_value: exactMatch http://identifiers.org/omim/146400
is_obsolete: true
consider: MONDO:0007436

[Term]
id: MONDO:0007802
name: hypospadias 3, autosomal
synonym: "hypospadias 3, autosomal" EXACT [MONDO:Lexical, OMIM:146450]
synonym: "hypospadias 3, autosomal; HYSP3" RELATED [OMIM:146450]
synonym: "HYSP3" RELATED [MONDO:Lexical, OMIM:146450]
xref: MESH:C567191 {source="MONDO:equivalentTo"}
xref: OMIM:146450 {source="MONDO:equivalentTo"}
xref: UMLS:C2675154 {source="OMIM:146450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005345 {source="DC-OMIM:146450", source="MESH:C567191", source="OMIM:146450"} ! hypospadias (disease)
property_value: exactMatch http://identifiers.org/mesh/C567191
property_value: exactMatch http://identifiers.org/omim/146450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675154

[Term]
id: MONDO:0007803
name: multiple system atrophy
def: "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." [Orphanet:102]
subset: ordo_disease {source="Orphanet:102"}
synonym: "autonomic failure, Pure" RELATED [OMIM:146500]
synonym: "hypotension, orthostatic" RELATED [OMIM:146500]
synonym: "MSA" EXACT [Orphanet:102]
synonym: "multisystem atrophy" EXACT [Orphanet:102]
synonym: "Shy-Drager syndrome" EXACT [DOID:4752]
synonym: "Shy-dragger syndrome (formerly)" RELATED [GARD:0007079]
synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500]
xref: DOID:4752 {source="MONDO:equivalentTo"}
xref: EFO:1001050 {source="MONDO:equivalentTo"}
xref: GARD:0007079 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G90.3 {source="ORDO:102/e", source="Orphanet:102"}
xref: MedDRA:10064060 {source="ORDO:102/e", source="Orphanet:102"}
xref: MESH:D019578 {source="DOID:4752", source="MONDO:equivalentTo", source="ORDO:102/e", source="Orphanet:102"}
xref: NCIT:C84909 {source="DOID:4752", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:146500 {source="DOID:4752", source="MONDO:equivalentTo", source="ORDO:102/e", source="Orphanet:102"}
xref: Orphanet:102 {source="MONDO:equivalentTo", source="OMIM:146500"}
xref: UMLS:C0037019 {source="DOID:4752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0393571 {source="DOID:4752", source="MONDO:equivalentTo", source="NCIT:C84909", source="ORDO:102/e", source="Orphanet:102"}
is_a: MONDO:0000510 {source="DOID:4752", source="PMID:24262191"} ! synucleinopathy
is_a: MONDO:0015914 {source="Orphanet:102"} ! primary orthostatic hypotension
is_a: MONDO:0017641 {source="Orphanet:102"} ! miscellaneous movement disorder due to neurodegenerative disease
property_value: closeMatch http://identifiers.org/mesh/D012791
property_value: closeMatch http://identifiers.org/snomedct/16576004
property_value: closeMatch http://identifiers.org/snomedct/230297002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020651
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714927
property_value: closeMatch NCIT:C85066
property_value: exactMatch DOID:4752
property_value: exactMatch http://identifiers.org/meddra/10064060
property_value: exactMatch http://identifiers.org/mesh/D019578
property_value: exactMatch http://identifiers.org/omim/146500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393571
property_value: exactMatch NCIT:C84909
property_value: exactMatch Orphanet:102

[Term]
id: MONDO:0007804
name: Pallister-hall syndrome
def: "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." [Orphanet:672]
subset: gard_rare {source="GARD:0007305"}
subset: ordo_malformation_syndrome {source="Orphanet:672"}
synonym: "ano-cerebro-digital syndrome" EXACT [NCIT:C84987]
synonym: "hypothalamic hamartoblastoma syndrome" EXACT [Orphanet:672]
synonym: "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" EXACT [OMIM:146510]
synonym: "Pallister Hall syndrome" EXACT [GARD:0007305]
synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510]
synonym: "Pallister-Hall syndrome; PHS" EXACT [OMIM:146510]
synonym: "PHS" EXACT [MONDO:Lexical, OMIM:146510]
xref: DOID:9248 {source="MONDO:equivalentTo"}
xref: GARD:0007305 {source="MONDO:equivalentTo"}
xref: ICD10:D33.0 {source="ORDO:672/attributed", source="ORDO:672/ntbt", source="Orphanet:672"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D054975 {source="DOID:9248", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:672/e", source="Orphanet:672"}
xref: NCIT:C84987 {source="DOID:9248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:146510 {source="DOID:9248", source="MONDO:equivalentTo", source="ORDO:672/e", source="Orphanet:672"}
xref: Orphanet:672 {source="MONDO:equivalentTo", source="OMIM:146510"}
xref: SCTID:56677004 {source="DOID:9248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265220 {source="DOID:9248", source="NCIT:C84987", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146510", source="ORDO:672/e", source="Orphanet:672"}
is_a: MONDO:0015246 {source="Orphanet:672"} ! syndromic anorectal malformation
is_a: MONDO:0017434 {source="Orphanet:672"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019721 {source="Orphanet:672"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0019827 {source="Orphanet:672"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:672"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342418
property_value: exactMatch DOID:9248
property_value: exactMatch http://identifiers.org/mesh/D054975
property_value: exactMatch http://identifiers.org/omim/146510
property_value: exactMatch http://identifiers.org/snomedct/56677004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265220
property_value: exactMatch NCIT:C84987
property_value: exactMatch Orphanet:672
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome xsd:anyURI {source="GARD:0007305"}

[Term]
id: MONDO:0007805
name: hypotrichosis 2
def: "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDSN hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Htss" RELATED [OMIM:146520]
synonym: "Htss1" RELATED EXCLUDE [DOID:0110699]
synonym: "hypotrichosis 2" EXACT [MONDO:Lexical, OMIM:146520]
synonym: "hypotrichosis 2; HYPT2" RELATED [OMIM:146520]
synonym: "hypotrichosis caused by mutation in CDSN" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex of the scalp 1" EXACT [DOID:0110699, OMIM:146520]
synonym: "hypotrichosis type 2" EXACT [DOID:0110699, MONDORULE:1, OMIM:146520]
synonym: "hypotrichosis, Spanish type" RELATED [OMIM:146520]
synonym: "HYPT2" RELATED [MONDO:Lexical, OMIM:146520]
synonym: "hypt2" EXACT [DOID:0110699]
synonym: "Spanish type hypotrichosis" EXACT [DOID:0110699]
xref: DOID:0110699 {source="MONDO:equivalentTo"}
xref: MESH:C564143 {source="MONDO:equivalentTo"}
xref: OMIM:146520 {source="DOID:0110699", source="MONDO:equivalentTo"}
is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840299
property_value: exactMatch DOID:0110699
property_value: exactMatch http://identifiers.org/mesh/C564143
property_value: exactMatch http://identifiers.org/omim/146520

[Term]
id: MONDO:0007806
name: hypotrichosis 4
def: "Any hypotrichosis in which the cause of the disease is a mutation in the HR gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: consider merging into MUHH
synonym: "HR hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis 4" EXACT [MONDO:Lexical, OMIM:146550]
synonym: "hypotrichosis 4; HYPT4" RELATED [OMIM:146550]
synonym: "hypotrichosis caused by mutation in HR" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 4" EXACT [DOID:0110701, MONDORULE:1, OMIM:146550]
synonym: "hypotrichosis, Marie Unna type, 1" EXACT [DOID:0110701, OMIM:146550]
synonym: "HYPT4" RELATED [MONDO:Lexical, OMIM:146550]
synonym: "hypt4" EXACT [DOID:0110701]
synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [DOID:0110701, OMIM:146550]
synonym: "Muhh1" EXACT [DOID:0110701]
xref: DOID:0110701 {source="MONDO:equivalentTo"}
xref: MESH:C567718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146550 {source="DOID:0110701", source="MONDO:equivalentTo"}
xref: UMLS:C2750815 {source="NCBI:mim2gene_medline", source="OMIM:146550", source="MONDO:equivalentTo"}
is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis
property_value: exactMatch DOID:0110701
property_value: exactMatch http://identifiers.org/mesh/C567718
property_value: exactMatch http://identifiers.org/omim/146550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750815

[Term]
id: MONDO:0007807
name: hypoxanthine guanine phosphoribosyltransferase suppressor
synonym: "hypoxanthine guanine phosphoribosyltransferase suppressor" EXACT [OMIM:146580]
xref: OMIM:146580 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840297
property_value: exactMatch http://identifiers.org/omim/146580

[Term]
id: MONDO:0007808
name: ichthyosis hystrix of Curth-Macklin
def: "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." [Orphanet:79503]
subset: ordo_disease {source="Orphanet:79503"}
synonym: "Curth-Macklin type ichthyosis hystrix" RELATED [GARD:0002954]
synonym: "ichthyosis hystrix, Curth Macklin type" RELATED [GARD:0002954]
synonym: "ichthyosis HYSTRIX, Curth-Macklin type" RELATED [MONDO:Lexical, OMIM:146590]
synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [Orphanet:79503]
synonym: "ichthyosis HYSTRIX, Curth-Macklin type; IHCM" RELATED [OMIM:146590]
synonym: "IHCM" RELATED [MONDO:Lexical, OMIM:146590]
xref: GARD:0002954 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q80.8 {source="Orphanet:79503", source="ORDO:79503/attributed", source="ORDO:79503/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79503/e"}
xref: OMIM:146590 {source="Orphanet:79503", source="MONDO:equivalentTo", source="ORDO:79503/e"}
xref: Orphanet:79503 {source="OMIM:146590", source="MONDO:equivalentTo"}
xref: SCTID:254170001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1840296 {source="OMIM:146590", source="Orphanet:79503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:79503/e"}
is_a: MONDO:0017266 {source="Orphanet:79503"} ! keratinopathic ichthyosis
property_value: exactMatch http://identifiers.org/mesh/C536088
property_value: exactMatch http://identifiers.org/omim/146590
property_value: exactMatch http://identifiers.org/snomedct/254170001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840296
property_value: exactMatch Orphanet:79503

[Term]
id: MONDO:0007809
name: ichthyosis hystrix gravior
subset: gard_rare {source="GARD:0009497"}
subset: ordo_disease {source="Orphanet:79504"}
synonym: "ichthyosis hystrix gravior" EXACT [OMIM:146600]
synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504]
synonym: "Lambert type ichthyosis" RELATED [GARD:0009497]
synonym: "porcupine Man" RELATED [OMIM:146600]
xref: GARD:0009497 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="ORDO:79504/attributed", source="ORDO:79504/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536087 {source="ORDO:79504/e", source="Orphanet:79504", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146600 {source="ORDO:79504/e", source="Orphanet:79504", source="MONDO:equivalentTo"}
xref: Orphanet:79504 {source="MONDO:equivalentTo", source="OMIM:146600"}
xref: SCTID:254174005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.86"}
is_a: MONDO:0017266 {source="Orphanet:79504"} ! keratinopathic ichthyosis
property_value: exactMatch http://identifiers.org/mesh/C536087
property_value: exactMatch http://identifiers.org/omim/146600
property_value: exactMatch http://identifiers.org/snomedct/254174005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432311
property_value: exactMatch Orphanet:79504
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior xsd:anyURI {source="GARD:0009497"}

[Term]
id: MONDO:0007810
name: autosomal dominant ichthyosis vulgaris
def: "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid , salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." [https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris]
comment: Editor note: check orphanet ID from OMIM; check if non-AD form
subset: gard_rare
synonym: "dominant congenital ichthyosiform erythroderma" EXACT [DOID:1702]
synonym: "dominant ichthyosis vulgaris" RELATED [GARD:0001897]
synonym: "ichthyosis simplex" RELATED [OMIM:146700]
synonym: "ichthyosis vulgaris" RELATED [OMIM:146700]
synonym: "ichthyosis vulgaris, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
xref: DOID:1702 {source="MONDO:equivalentTo"}
xref: GARD:0001897 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.0 {source="MONDO:equivalentTo", source="DOID:1702"}
xref: MESH:D016112 {source="MONDO:equivalentTo", source="DOID:1702", source="MONDO:ontobio"}
xref: OMIM:146700 {source="MONDO:equivalentTo", source="DOID:1702"}
xref: SCTID:254157005 {source="MONDO:equivalentTo", source="DOID:1702", source="MONDO:kboom-pr-0.85/0.68/0.13"}
xref: UMLS:C0079584 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0001897", source="DOID:1702", source="OMIM:146700"}
is_a: MONDO:0000426 {source="DOID:1702", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015947 {source="ICD10:Q80.0", source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! inherited ichthyosis
is_a: MONDO:0024304 ! ichthyosis vulgaris
property_value: closeMatch http://identifiers.org/snomedct/20512000
property_value: closeMatch http://identifiers.org/snomedct/205551004
property_value: closeMatch Orphanet:462
property_value: exactMatch DOID:1702
property_value: exactMatch http://identifiers.org/mesh/D016112
property_value: exactMatch http://identifiers.org/omim/146700
property_value: exactMatch http://identifiers.org/snomedct/254157005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079584

[Term]
id: MONDO:0007811
name: ichthyosis-cheek-eyebrow syndrome
def: "Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." [Orphanet:2267]
subset: ordo_disease {source="Orphanet:2267"}
synonym: "Ice syndrome" RELATED [OMIM:146720]
synonym: "ichthyosis cheek eyebrow syndrome" RELATED [GARD:0002947]
synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [OMIM:146720]
synonym: "Sidransky Feinstein Goodman syndrome" RELATED [GARD:0002947]
synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [Orphanet:2267]
xref: GARD:0002947 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536084 {source="Orphanet:2267", source="ORDO:2267/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146720 {source="Orphanet:2267", source="ORDO:2267/e", source="MONDO:equivalentTo"}
xref: Orphanet:2267 {source="MONDO:equivalentTo", source="OMIM:146720"}
xref: SCTID:716097001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0017274 {source="Orphanet:2267"} ! autosomal ichthyosis syndrome with other associated signs
property_value: exactMatch http://identifiers.org/mesh/C536084
property_value: exactMatch http://identifiers.org/omim/146720
property_value: exactMatch http://identifiers.org/snomedct/716097001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840283
property_value: exactMatch Orphanet:2267

[Term]
id: MONDO:0007812
name: ichthyosis, lamellar, autosomal dominant
subset: gard_rare {source="GARD:0009735"}
synonym: "ichthyosis lamellar, autosomal dominant" RELATED [GARD:0009735]
synonym: "ichthyosis, lamellar, autosomal dominant" EXACT [OMIM:146750]
synonym: "lamellar ichthyosis, autosomal dominant" RELATED [OMIM:146750]
xref: GARD:0009735 {source="MONDO:equivalentTo"}
xref: MESH:C537263 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146750 {source="MONDO:equivalentTo"}
xref: SCTID:254164007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0017778 {source="MESH:C537263"} ! lamellar ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432304
property_value: exactMatch http://identifiers.org/mesh/C537263
property_value: exactMatch http://identifiers.org/omim/146750
property_value: exactMatch http://identifiers.org/snomedct/254164007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant xsd:anyURI {source="GARD:0009735"}

[Term]
id: MONDO:0007813
name: ichthyosis bullosa of Siemens
def: "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." [Orphanet:455]
subset: gard_rare {source="GARD:0002966"}
subset: ordo_disease {source="Orphanet:455"}
synonym: "bullous type ichthyosis" EXACT [DOID:0060877]
synonym: "bullous type of ichthyosis" RELATED [GARD:0002966]
synonym: "IBS" RELATED [MONDO:Lexical, OMIM:146800]
synonym: "ichthyosis bullosa of Siemens" EXACT [MONDO:Lexical, OMIM:146800, Orphanet:455]
synonym: "ichthyosis bullosa of Siemens; IBS" RELATED [OMIM:146800]
synonym: "ichthyosis exfoliativa" RELATED [OMIM:146800]
synonym: "ichthyosis, bullous type" RELATED [OMIM:146800]
synonym: "SEI" EXACT [Orphanet:455]
synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877]
xref: DOID:0060877 {source="MONDO:equivalentTo"}
xref: GARD:0002966 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.8 {source="Orphanet:455", source="DOID:0060877", source="ORDO:455/attributed", source="ORDO:455/ntbt"}
xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e"}
xref: NCIT:C84777 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.67"}
xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e"}
xref: Orphanet:455 {source="MONDO:equivalentTo", source="DOID:0060877", source="OMIM:146800"}
xref: SCTID:254169002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432306 {source="NCIT:C84777", source="Orphanet:455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e", source="OMIM:146800"}
is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis
is_a: MONDO:0017339 ! exfoliative ichthyosis
property_value: exactMatch DOID:0060877
property_value: exactMatch http://identifiers.org/mesh/D053560
property_value: exactMatch http://identifiers.org/omim/146800
property_value: exactMatch http://identifiers.org/snomedct/254169002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432306
property_value: exactMatch NCIT:C84777
property_value: exactMatch Orphanet:455
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens xsd:anyURI {source="GARD:0002966"}

[Term]
id: MONDO:0007814
name: immune deficiency, familial variable
subset: gard_rare {source="GARD:0002984"}
synonym: "immune deficiency, familial variable" EXACT [OMIM:146830]
xref: GARD:0002984 {source="MONDO:equivalentTo"}
xref: MESH:C564136 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146830 {source="MONDO:equivalentTo"}
xref: UMLS:C1840266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146830"}
is_a: MONDO:0015517 {source="ORDO:1572/btnt"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C564136
property_value: exactMatch http://identifiers.org/omim/146830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840266
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable xsd:anyURI {source="GARD:0002984"}

[Term]
id: MONDO:0007815
name: immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
synonym: "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" EXACT [OMIM:146840]
xref: MESH:C564135 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:146840 {source="MONDO:equivalentTo"}
xref: UMLS:C1840265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146840"}
is_a: MONDO:0003778 {source="DC-OMIM:146840", source="MESH:C564135"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/mesh/C564135
property_value: exactMatch http://identifiers.org/omim/146840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840265

[Term]
id: MONDO:0007816
name: immune suppression
comment: Editor note: consider obsoleting
synonym: "immune suppression" EXACT [MONDO:Lexical, OMIM:146850]
synonym: "immune suppression; IS" RELATED [OMIM:146850]
synonym: "IS" RELATED [MONDO:Lexical, OMIM:146850]
synonym: "Iscw" RELATED [OMIM:146850]
synonym: "streptococcal cell wall antigen, suppression of immune response to" RELATED [OMIM:146850]
xref: OMIM:146850 {source="MONDO:equivalentTo"}
xref: UMLS:C1840264 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/146850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840264

[Term]
id: MONDO:0007817
name: IgE responsiveness, atopic
def: "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." [NCIT:C3116]
synonym: "Atopic hypersensitivity" RELATED [OMIM:147050]
synonym: "atopy, susceptibility to" RELATED [OMIM:147050]
synonym: "IgE response underlying allergic asthma and rhinitis" RELATED [OMIM:147050]
synonym: "IgE responsiveness, atopic" EXACT [MONDO:Lexical, OMIM:147050]
synonym: "IgE responsiveness, ATOPIC; IGER" RELATED [OMIM:147050]
synonym: "IgE, elevated level of" RELATED [OMIM:147050]
synonym: "IgE, level of" RELATED [OMIM:147050]
synonym: "IGER" RELATED [MONDO:Lexical, OMIM:147050]
synonym: "immediate hypersensitivity" EXACT [NCIT:C3116]
synonym: "Immunoglobulin E, basic level of, in serum" RELATED [OMIM:147050]
synonym: "type 1 hypersensitivity" EXACT [NCIT:C3116]
synonym: "type 1 hypersensitivity reaction" EXACT [NCIT:C3116]
synonym: "type I hypersensitivity" EXACT [NCIT:C3116]
synonym: "type I hypersensitivity reaction" EXACT [NCIT:C3116]
synonym: "type I immediate hypersensitivity reaction" EXACT [NCIT:C3116]
xref: NCIT:C3116 {source="MONDO:equivalentTo"}
xref: OMIM:147050 {source="MONDO:equivalentTo"}
xref: UMLS:C1840253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147050"}
is_a: MONDO:0004980 {source="MONDOLEX:0007817"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020523
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236175
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840254
property_value: exactMatch http://identifiers.org/omim/147050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840253
property_value: exactMatch NCIT:C3116

[Term]
id: MONDO:0007818
name: Hyper-IgE recurrent infection syndrome 1
def: "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." [NCIT:C126342]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2314"}
synonym: "AD hyperimmunoglobulin E syndrome" RELATED [GARD:0006800]
synonym: "AD-HIES" EXACT [GARD:0006800, Orphanet:2314]
synonym: "autosomal dominant HIES" EXACT [Orphanet:2314]
synonym: "autosomal dominant hyper IgE syndrome" RELATED [GARD:0006800]
synonym: "autosomal dominant hyper-IgE syndrome" EXACT [NCIT:C126342]
synonym: "autosomal dominant hyperimmunoglobulin E syndrome" EXACT [Orphanet:2314]
synonym: "Buckley syndrome" EXACT [Orphanet:2314]
synonym: "HIES autosomal dominant" RELATED [GARD:0006800]
synonym: "HIES, autosomal dominant" RELATED [OMIM:147060]
synonym: "hyper Ig E syndrome, autosomal dominant" RELATED [GARD:0006800]
synonym: "hyper-IgE recurrent infection syndrome" EXACT [NCIT:C126342]
synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" RELATED [OMIM:147060]
synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" RELATED [GARD:0006800]
synonym: "hyperimmunoglobulin E syndrome" EXACT EXCLUDE [DOID:3261]
synonym: "hyperimmunoglobulin E syndrome type 1" EXACT [Orphanet:2314]
synonym: "hyperimmunoglobulin E-recurrent infection syndrome" EXACT [Orphanet:2314]
synonym: "Job syndrome" EXACT [DOID:3261, OMIM:147060, Orphanet:2314]
synonym: "Job syndrome autosomal dominant" EXACT [GARD:0006800]
synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "STAT3 deficiency" EXACT [Orphanet:2314]
xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"}
xref: EFO:0003775 {source="MONDO:equivalentTo"}
xref: GARD:0006800 {source="MONDO:equivalentTo"}
xref: ICD10:D82.4 {source="ORDO:2314/attributed", source="ORDO:2314/ntbt", source="Orphanet:2314"}
xref: NCIT:C126342 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.73/1.33"}
xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="ORDO:2314/e", source="MONDO:equivalentTo", source="Orphanet:2314", source="DOID:3261"}
xref: Orphanet:2314 {source="GARD:0006800", source="MONDO:equivalentTo", source="OMIM:147060"}
xref: SCTID:50926003 {source="EFO:0003775", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018037 {source="MONDO:Redundant", source="Orphanet:2314"} ! hyper-IgE syndrome
is_a: MONDO:0019305 {source="Orphanet:2314"} ! immune deficiency with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/mesh/D007589
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022398
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887645
property_value: exactMatch DOID:3261
property_value: exactMatch http://identifiers.org/omim/147060
property_value: exactMatch http://identifiers.org/snomedct/50926003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489795
property_value: exactMatch NCIT:C126342
property_value: exactMatch Orphanet:2314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome xsd:anyURI {source="GARD:0006800"}

[Term]
id: MONDO:0007819
name: solitary median maxillary central incisor syndrome
def: "from about the 35th-38th day after conception." [Orphanet:2286]
subset: ordo_clinical_subtype {source="Orphanet:2286"}
synonym: "Fused incisors" RELATED [OMIM:147250]
synonym: "incisors fused" RELATED [GARD:0004877]
synonym: "incisors, Fused" RELATED [OMIM:147250]
synonym: "single central maxillary incisor" RELATED [OMIM:147250]
synonym: "single upper central incisor" EXACT [OMIM:147250, Orphanet:2286]
synonym: "SMMCI" EXACT [MONDO:Lexical, OMIM:147250, Orphanet:2286]
synonym: "SMMCI syndrome" RELATED [OMIM:147250]
synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250]
synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250]
synonym: "solitary MEDIAN maxillary central incisor; SMMCI" RELATED [OMIM:147250]
xref: GARD:0004877 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K00.2 {source="Orphanet:2286", source="ORDO:2286/attributed", source="ORDO:2286/ntbt"}
xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2286/e"}
xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="ORDO:2286/e"}
xref: Orphanet:2286 {source="OMIM:147250", source="MONDO:equivalentTo"}
xref: SCTID:707609006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0007733 ! holoprosencephaly 3
is_a: MONDO:0015336 {source="Orphanet:2286"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017219 {source="Orphanet:2286"} ! microform holoprosencephaly
property_value: exactMatch http://identifiers.org/mesh/C537342
property_value: exactMatch http://identifiers.org/omim/147250
property_value: exactMatch http://identifiers.org/snomedct/707609006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840235
property_value: exactMatch Orphanet:2286

[Term]
id: MONDO:0007820
name: fused mandibular incisors
def: "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." [Orphanet:2287]
subset: gard_rare {source="GARD:0002419"}
subset: ordo_morphological_anomaly {source="Orphanet:2287"}
synonym: "'Double Tooth'" RELATED [OMIM:147251]
synonym: "Double tooth" RELATED [GARD:0002419]
synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251]
xref: GARD:0002419 {source="MONDO:equivalentTo"}
xref: ICD10:K00.2 {source="Orphanet:2287", source="ORDO:2287/attributed", source="ORDO:2287/ntbt"}
xref: OMIM:147251 {source="Orphanet:2287", source="ORDO:2287/e", source="MONDO:equivalentTo"}
xref: Orphanet:2287 {source="OMIM:147251", source="MONDO:equivalentTo"}
xref: SCTID:707796002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
xref: UMLS:CN201433 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:2287"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:2287"} ! rare genetic odontal or periodontal disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3494175
property_value: exactMatch http://identifiers.org/mesh/C535997
property_value: exactMatch http://identifiers.org/omim/147251
property_value: exactMatch http://identifiers.org/snomedct/707796002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201433
property_value: exactMatch Orphanet:2287
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors xsd:anyURI {source="GARD:0002419"}

[Term]
id: MONDO:0007821
name: immunoglobulin switch sequences
synonym: "immunoglobulin switch sequences" EXACT [OMIM:147260]
synonym: "Immunoglobulin-independent switch Sequences" RELATED [OMIM:147260]
synonym: "S Sequences" RELATED [OMIM:147260]
xref: OMIM:147260 {source="MONDO:equivalentTo"}
xref: UMLS:C1840234 {source="MONDO:equivalentTo", source="OMIM:147260"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840233
property_value: exactMatch http://identifiers.org/omim/147260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840234

[Term]
id: MONDO:0007822
name: incisors, long upper central
synonym: "incisors, long upper central" EXACT [OMIM:147300]
xref: OMIM:147300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840227
property_value: exactMatch http://identifiers.org/omim/147300

[Term]
id: MONDO:0007823
name: insulin receptors, familial increase 1N
synonym: "insulin receptors, familial increase IN" RELATED [OMIM:147320]
synonym: "insulin receptors, familial increase type 1N" EXACT [MONDORULE:4, OMIM:147320]
xref: OMIM:147320 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840226
property_value: exactMatch http://identifiers.org/omim/147320

[Term]
id: MONDO:0007824
name: incisors, lower central, absence of
synonym: "incisors, lower central, absence of" EXACT [OMIM:147330]
xref: OMIM:147330 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840225
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/omim/147330

[Term]
id: MONDO:0007825
name: incisors, rotation of upper central
synonym: "incisors, rotation of upper central" EXACT [OMIM:147350]
xref: OMIM:147350 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840224
property_value: exactMatch http://identifiers.org/omim/147350

[Term]
id: MONDO:0007826
name: incisors, shovel-shaped
synonym: "incisors, shovel-shaped" EXACT [OMIM:147400]
synonym: "Sinodonty" RELATED [OMIM:147400]
xref: OMIM:147400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1409763
property_value: exactMatch http://identifiers.org/omim/147400

[Term]
id: MONDO:0007827
name: inclusion body myositis
def: "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." [Orphanet:611]
subset: ordo_disease {source="Orphanet:611"}
synonym: "distal myopathy with rimmed vacuoles" EXACT [DOID:3429]
synonym: "distal myopathy with rimmed vacuoles (DMRV)" EXACT [DOID:3429]
synonym: "distal myopathy, Nonaka type" EXACT EXCLUDE [DOID:3429]
synonym: "hereditary inclusion body myopathy" EXACT [DOID:3429]
synonym: "HIBM" EXACT [DOID:3429]
synonym: "IBM" EXACT [Orphanet:611]
synonym: "Ibm" RELATED [OMIM:147421]
synonym: "IBM-3" EXACT [DOID:3429]
synonym: "IBM2" EXACT [DOID:3429]
synonym: "inclusion body myopathy 2" EXACT [DOID:3429]
synonym: "inclusion body myopathy 3" EXACT [DOID:3429]
synonym: "inclusion body myositis" EXACT [OMIM:147421]
synonym: "inflammatory myopathy" RELATED [GARD:0003896]
synonym: "Nonaka myopathy" EXACT [DOID:3429]
synonym: "sIBM" EXACT [Orphanet:611]
synonym: "sporadic inclusion body myositis" EXACT [Orphanet:611]
xref: COHD:4216406 {source="MONDO:equivalentTo"}
xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"}
xref: EFO:0007323 {source="MONDO:equivalentTo"}
xref: GARD:0003896 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G72.41 {source="DOID:3429"}
xref: ICD10:M60.8 {source="Orphanet:611", source="ORDO:611/ntbt"}
xref: ICD9:359.71 {source="MONDO:equivalentTo", source="i2s", source="DOID:3429"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066407 {source="Orphanet:611", source="ORDO:611/e"}
xref: MESH:D018979 {source="EFO:0007323", source="MONDO:equivalentTo", source="DOID:3429"}
xref: NCIT:C84786 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3429"}
xref: OMIM:147421 {source="Orphanet:611", source="MONDO:equivalentTo", source="DOID:3429", source="ORDO:611/e"}
xref: Orphanet:611 {source="MONDO:equivalentTo", source="OMIM:147421"}
xref: SCTID:72315009 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo", source="DOID:3429"}
xref: UMLS:C0238190 {source="Orphanet:611", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147421", source="DOID:3429", source="NCIT:C84786", source="ORDO:611/e"}
is_a: MONDO:0021167 {source="DOID:3429", source="EFO:0007323", source="MESH:D018979", source="MONDOLEX:0007827", source="NCIT:C84786", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751713
property_value: exactMatch DOID:3429
property_value: exactMatch http://identifiers.org/meddra/10066407
property_value: exactMatch http://identifiers.org/mesh/D018979
property_value: exactMatch http://identifiers.org/omim/147421
property_value: exactMatch http://identifiers.org/snomedct/72315009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238190
property_value: exactMatch NCIT:C84786
property_value: exactMatch Orphanet:611

[Term]
id: MONDO:0007828
name: indifference to pain, congenital, autosomal dominant
synonym: "congenital analgesia, autosomal dominant" RELATED [OMIM:147430]
synonym: "indifference to pain, congenital, autosomal dominant" EXACT [OMIM:147430]
synonym: "insensitivity to pain, congenital, autosomal dominant" RELATED [OMIM:147430]
synonym: "Marsili syndrome" RELATED [OMIM:147430]
synonym: "MARSILI syndrome; MARSIS" RELATED [OMIM:147430]
synonym: "MARSIS" RELATED [OMIM:147430]
xref: MESH:C564128 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147430 {source="MONDO:equivalentTo"}
xref: UMLS:C1840219 {source="NCBI:mim2gene_medline", source="OMIM:147430", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564128/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564128
property_value: exactMatch http://identifiers.org/omim/147430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840219

[Term]
id: MONDO:0007829
name: cholestasis, intrahepatic, of pregnancy, 1
synonym: "cholestasis, intrahepatic, of pregnancy, 1" EXACT [MONDO:Lexical, OMIM:147480]
synonym: "cholestasis, intrahepatic, of pregnancy, 1; ICP1" RELATED [OMIM:147480]
synonym: "cholestasis, intrahepatic, of pregnancy, type 1" EXACT [MONDORULE:1, OMIM:147480]
synonym: "cholestasis, pregnancy-related, 1" RELATED [OMIM:147480]
synonym: "ICP1" RELATED [MONDO:Lexical, OMIM:147480]
xref: DOID:0070228 {source="MONDO:equivalentTo"}
xref: OMIM:147480 {source="MONDO:equivalentTo"}
xref: UMLS:C3549845 {source="MONDO:equivalentTo", source="OMIM:147480"}
is_a: MONDO:0019072 {source="MONDOLEX:0007829", source="ORDO:69665/btnt"} ! intrahepatic cholestasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268318
property_value: exactMatch DOID:0070228
property_value: exactMatch http://identifiers.org/omim/147480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3549845

[Term]
id: MONDO:0007830
name: insensitivity to pain with hyperplastic Myelinopathy
synonym: "insensitivity to pain with hyperplastic Myelinopathy" EXACT [OMIM:147530]
xref: OMIM:147530 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840172
property_value: exactMatch http://identifiers.org/omim/147530

[Term]
id: MONDO:0007831
name: insect Stings, hypersensitivity to
synonym: "insect Stings, hypersensitivity to" EXACT [OMIM:147540]
xref: OMIM:147540 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840171
property_value: exactMatch http://identifiers.org/omim/147540

[Term]
id: MONDO:0007832
name: interferon antiviral depressor
synonym: "interferon antiviral depressor" EXACT [OMIM:147560]
xref: OMIM:147560 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840150
property_value: exactMatch http://identifiers.org/omim/147560

[Term]
id: MONDO:0007833
name: iris pigment layer, cleavage of
synonym: "iris pigment layer, cleavage of" EXACT [OMIM:147610]
xref: OMIM:147610 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840140
property_value: exactMatch http://identifiers.org/omim/147610

[Term]
id: MONDO:0007834
name: islet cell adenomatosis
def: "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." [NCIT:C4375]
synonym: "INSDM" RELATED [OMIM:147630]
synonym: "Insulinomatosis and diabetes mellitus" RELATED [OMIM:147630]
synonym: "INSULINOMATOSIS and diabetes mellitus; INSDM" RELATED [OMIM:147630]
synonym: "islet cell adenomatosis" EXACT [OMIM:147630]
synonym: "Nesidioblastosis" EXACT [NCIT:C4375]
synonym: "Nesidioblastosis" RELATED [NCIT:C4375]
xref: MESH:C563258 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4375 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: OMIM:147630 {source="MONDO:equivalentTo"}
xref: SCTID:274944000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1578917 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147630"}
is_a: MONDO:0001933 {source="NCIT:C4375", source="linkedlifedata"} ! endocrine pancreas disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027773
property_value: exactMatch http://identifiers.org/mesh/C563258
property_value: exactMatch http://identifiers.org/omim/147630
property_value: exactMatch http://identifiers.org/snomedct/274944000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1578917
property_value: exactMatch NCIT:C4375

[Term]
id: MONDO:0007835
name: intussusception
def: "Telescoping or invagination of a part of the intestine into an adjacent segment." [NCIT:P378]
synonym: "intussusception" EXACT [OMIM:147710]
synonym: "intussusception (morphologic abnormality)" EXACT [DOID:8446]
synonym: "intussusception of intestine" EXACT [DOID:8446]
synonym: "invagination of intestine or colon" EXACT [DOID:8446, MTHICD9_2006:560.0]
xref: DOID:8446 {source="MONDO:equivalentTo"}
xref: ICD10:K56.1 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: ICD9:560.0 {source="DOID:8446", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007443 {source="DOID:8446", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147710 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: SCTID:49723003 {source="DOID:8446", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0021933 {source="DOID:8446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147710"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal obstruction
property_value: closeMatch http://identifiers.org/snomedct/155772009
property_value: closeMatch http://identifiers.org/snomedct/197055000
property_value: closeMatch http://identifiers.org/snomedct/35327006
property_value: exactMatch DOID:8446
property_value: exactMatch http://identifiers.org/mesh/D007443
property_value: exactMatch http://identifiers.org/omim/147710
property_value: exactMatch http://identifiers.org/snomedct/49723003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021933
property_value: exactMatch NCIT:C113484

[Term]
id: MONDO:0007836
name: IVIC syndrome
def: "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." [Orphanet:2307]
subset: gard_rare {source="GARD:0000269"}
subset: ordo_malformation_syndrome {source="Orphanet:2307"}
synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269]
synonym: "IVIC syndrome" EXACT [OMIM:147750]
synonym: "oculo-oto-radial syndrome" EXACT [Orphanet:2307]
synonym: "oculootoradial syndrome" RELATED [OMIM:147750]
synonym: "OORS" RELATED [GARD:0000269]
synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750]
synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307]
xref: GARD:0000269 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.8 {source="ORDO:2307/attributed", source="ORDO:2307/ntbt", source="Orphanet:2307"}
xref: MESH:C535544 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147750 {source="MONDO:equivalentTo", source="ORDO:2307/e", source="Orphanet:2307"}
xref: Orphanet:2307 {source="OMIM:147750", source="MONDO:equivalentTo"}
xref: SCTID:722019000 {source="MONDO:kboom-pr-1.00/0.81/11.85", source="MONDO:equivalentTo"}
xref: UMLS:C1327918 {source="OMIM:147750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2307/e", source="Orphanet:2307"}
is_a: MONDO:0017432 {source="Orphanet:2307"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2307", source="Orphanet:2307/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535544
property_value: exactMatch http://identifiers.org/omim/147750
property_value: exactMatch http://identifiers.org/snomedct/722019000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327918
property_value: exactMatch Orphanet:2307
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome xsd:anyURI {source="GARD:0000269"}

[Term]
id: MONDO:0007837
name: Johnson neuroectodermal syndrome
def: "Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." [Orphanet:2316]
subset: gard_rare {source="GARD:0000378"}
subset: ordo_malformation_syndrome {source="Orphanet:2316"}
synonym: "Aadh syndrome" RELATED [OMIM:147770]
synonym: "alopecia anosmia deafness hypogonadism syndrome" RELATED [GARD:0000378]
synonym: "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" EXACT [Orphanet:2316]
synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, Orphanet:2316]
synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770]
synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316]
xref: GARD:0000378 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2316/attributed", source="ORDO:2316/ntbt", source="Orphanet:2316"}
xref: MESH:C535882 {source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316", source="MONDO:ontobio"}
xref: OMIM:147770 {source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316"}
xref: Orphanet:2316 {source="OMIM:147770", source="MONDO:equivalentTo"}
xref: SCTID:721584005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0796002 {source="OMIM:147770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2316", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2316"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="MESH:C535882/inferred", source="Orphanet:2316", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C535882
property_value: exactMatch http://identifiers.org/omim/147770
property_value: exactMatch http://identifiers.org/snomedct/721584005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796002
property_value: exactMatch Orphanet:2316
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome xsd:anyURI {source="GARD:0000378"}

[Term]
id: MONDO:0007838
name: Jacobsen syndrome
def: "Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." [Orphanet:2308]
subset: ordo_malformation_syndrome {source="Orphanet:2308"}
synonym: "11q terminal deletion disorder" EXACT [NCIT:C75457]
synonym: "chromosome 11q deletion syndrome" RELATED [OMIM:147791]
synonym: "Del(11)(q23.3)" EXACT [Orphanet:2308]
synonym: "Del(11)(qter)" EXACT [Orphanet:2308]
synonym: "distal deletion 11q" EXACT [Orphanet:2308]
synonym: "distal monosomy 11q" EXACT [Orphanet:2308]
synonym: "Jacobsen syndrome" EXACT [MONDO:Lexical, OMIM:147791]
synonym: "Jacobsen syndrome; JBS" RELATED [OMIM:147791]
synonym: "JBS" RELATED [MONDO:Lexical, OMIM:147791]
synonym: "monosomy 11qter" EXACT [Orphanet:2308]
synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791]
synonym: "telomeric deletion 11q" EXACT [Orphanet:2308]
xref: GARD:0000307 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:2308/attributed", source="ORDO:2308/ntbt", source="Orphanet:2308"}
xref: NCIT:C75457 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:147791 {source="MONDO:equivalentTo", source="Orphanet:2308", source="ORDO:2308/e"}
xref: Orphanet:2308 {source="OMIM:147791", source="MONDO:equivalentTo"}
xref: SCTID:715438008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795841 {source="OMIM:147791", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2308", source="ORDO:2308/e", source="NCIT:C75457"}
is_a: MONDO:0002254 {source="MONDOLEX:0007838", source="NCIT:C75457"} ! syndromic disease
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0016910 {source="MONDOLEX:0007838", source="Orphanet:2308"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0018795 {source="Orphanet:2308"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0020169 {source="Orphanet:2308"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/D054868
property_value: exactMatch http://identifiers.org/omim/147791
property_value: exactMatch http://identifiers.org/snomedct/715438008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795841
property_value: exactMatch NCIT:C75457
property_value: exactMatch Orphanet:2308

[Term]
id: MONDO:0007839
name: Aase-Smith syndrome
def: "Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." [Orphanet:916]
subset: ordo_malformation_syndrome {source="Orphanet:916"}
synonym: "Aase-Smith I syndrome" EXACT [Orphanet:916]
synonym: "Aase-Smith syndrome" EXACT [OMIM:147800]
synonym: "Aase-Smith syndrome 1" RELATED [OMIM:147800]
synonym: "Aase-Smith syndrome I" RELATED [OMIM:147800]
synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800]
synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916]
synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800]
xref: GARD:0005642 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:916/attributed", source="ORDO:916/ntbt", source="Orphanet:916"}
xref: MedDRA:10063429 {source="ORDO:916/e", source="Orphanet:916"}
xref: MESH:C535332 {source="MONDO:equivalentTo", source="ORDO:916/e", source="MONDO:ontobio", source="Orphanet:916"}
xref: OMIM:147800 {source="MONDO:equivalentTo", source="ORDO:916/e", source="Orphanet:916"}
xref: Orphanet:916 {source="MONDO:equivalentTo", source="OMIM:147800"}
xref: SCTID:718576001 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0220686 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:916/e", source="OMIM:147800", source="Orphanet:916"}
is_a: MONDO:0015335 {source="Orphanet:916"} ! orofacial clefting syndrome
is_a: MONDO:0017121 {source="Orphanet:916"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:916", source="Orphanet:916/inferred"} ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:916"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/meddra/10063429
property_value: exactMatch http://identifiers.org/mesh/C535332
property_value: exactMatch http://identifiers.org/omim/147800
property_value: exactMatch http://identifiers.org/snomedct/718576001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220686
property_value: exactMatch Orphanet:916

[Term]
id: MONDO:0007840
name: internal carotid artery, spontaneous dissection of
synonym: "internal carotid artery, spontaneous dissection of" EXACT [OMIM:147820]
xref: MESH:C564125 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147820 {source="MONDO:equivalentTo"}
xref: UMLS:C1840073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147820"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564125
property_value: exactMatch http://identifiers.org/omim/147820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840073

[Term]
id: MONDO:0007841
name: coxopodopatellar syndrome
def: "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." [Orphanet:1509]
subset: ordo_disease {source="Orphanet:1509"}
synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" RELATED [GARD:0003030]
synonym: "Coxo-podo-patellar syndrome" RELATED [GARD:0003030]
synonym: "coxopodopatellar syndrome" EXACT [OMIM:147891]
synonym: "ICPPS" RELATED [OMIM:147891]
synonym: "ischiocoxopodopatellar syndrome" RELATED [OMIM:147891]
synonym: "ischiocoxopodopatellar syndrome; ICPPS" RELATED [OMIM:147891]
synonym: "ischiopatellar dysplasia" EXACT [Orphanet:1509]
synonym: "patella aplasia, coxa vara, tarsal synostosis" RELATED [GARD:0003030]
synonym: "Scott-Taor syndrome" EXACT [OMIM:147891, Orphanet:1509]
synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:1509]
synonym: "small patella syndrome; SPS" RELATED [OMIM:147891]
synonym: "SPS" RELATED [MONDO:Lexical, OMIM:147891, Orphanet:1509]
xref: GARD:0003030 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.1 {source="ORDO:1509/attributed", source="ORDO:1509/ntbt", source="Orphanet:1509"}
xref: MESH:C535540 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147891 {source="MONDO:equivalentTo", source="Orphanet:1509", source="ORDO:1509/e"}
xref: Orphanet:1509 {source="OMIM:147891", source="MONDO:equivalentTo"}
xref: SCTID:720752007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C1840061 {source="OMIM:147891", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1509", source="ORDO:1509/e"}
is_a: MONDO:0019712 {source="Orphanet:1509"} ! patellar dysostosis
property_value: exactMatch http://identifiers.org/mesh/C535540
property_value: exactMatch http://identifiers.org/omim/147891
property_value: exactMatch http://identifiers.org/snomedct/720752007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868581
property_value: exactMatch Orphanet:1509

[Term]
id: MONDO:0007842
name: Ehlers-Danlos syndrome type 11
def: "Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." [Orphanet:2295]
subset: ordo_disease {source="Orphanet:2295"}
synonym: "articular hypermobility syndrome" RELATED [OMIM:147900]
synonym: "EDS 11 (formerly)" RELATED [GARD:0003054]
synonym: "EDS XI" EXACT [Orphanet:2295]
synonym: "EDS Xi" RELATED [OMIM:147900]
synonym: "EDS Xi, formerly" RELATED [OMIM:147900]
synonym: "EDS11" RELATED [OMIM:147900]
synonym: "EDS11, formerly" RELATED [OMIM:147900]
synonym: "Ehlers-Danlos syndrome, type 11 (formerly)" RELATED [GARD:0003054]
synonym: "Ehlers-Danlos syndrome, type Xi" RELATED [OMIM:147900]
synonym: "Ehlers-Danlos syndrome, type Xi, formerly" RELATED [OMIM:147900]
synonym: "familial Joint instability syndrome" RELATED [OMIM:147900]
synonym: "familial joint instability syndrome" EXACT [Orphanet:2295]
synonym: "familial joint laxity" EXACT [Orphanet:2295]
synonym: "Joint instability syndrome" EXACT [Orphanet:2295]
synonym: "JOINT laxity, familial" RELATED [OMIM:147900]
xref: GARD:0003054 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:2295/attributed", source="ORDO:2295/ntbt", source="Orphanet:2295"}
xref: MESH:C535884 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:147900 {source="MONDO:equivalentTo", source="ORDO:2295/e", source="Orphanet:2295"}
xref: Orphanet:2295 {source="MONDO:equivalentTo", source="OMIM:147900"}
xref: SCTID:71322004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.88"}
xref: UMLS:C0268349 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2295/e", source="OMIM:147900", source="Orphanet:2295"}
is_a: MONDO:0020066 {source="MONDOLEX:0007842", source="Orphanet:2295", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C535884
property_value: exactMatch http://identifiers.org/omim/147900
property_value: exactMatch http://identifiers.org/snomedct/71322004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268349
property_value: exactMatch Orphanet:2295

[Term]
id: MONDO:0007843
name: Kabuki syndrome 1
synonym: "KABUK1" RELATED [MONDO:Lexical, OMIM:147920]
synonym: "Kabuki make-Up syndrome" RELATED [OMIM:147920]
synonym: "Kabuki syndrome" RELATED [OMIM:147920]
synonym: "Kabuki syndrome 1" EXACT [MONDO:Lexical, OMIM:147920]
synonym: "KABUKI syndrome 1; KABUK1" RELATED [OMIM:147920]
synonym: "Kabuki syndrome type 1" EXACT [MONDORULE:1, OMIM:147920]
synonym: "Niikawa-Kuroki syndrome" RELATED [OMIM:147920]
xref: OMIM:147920 {source="MONDO:equivalentTo"}
xref: UMLS:CN030661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016512 {source="DC-OMIM:147920", source="OMIM:147920"} ! Kabuki syndrome
property_value: exactMatch http://identifiers.org/omim/147920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030661

[Term]
id: MONDO:0007844
name: hypogonadotropic hypogonadism 2 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH2" RELATED [MONDO:Lexical, OMIM:147950]
synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT [MONDO:Lexical, OMIM:147950]
synonym: "hypogonadotropic hypogonadism 2 with or without anosmia; HH2" RELATED [OMIM:147950]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MONDO:design_pattern]
synonym: "KAL2" RELATED [GARD:0003070]
synonym: "Kallmann syndrome 2" RELATED [OMIM:147950]
xref: DOID:0090083 {source="MONDO:equivalentTo"}
xref: GARD:0003070 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090083"}
xref: OMIM:147950 {source="MONDO:equivalentTo", source="DOID:0090083"}
xref: UMLS:C1563720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147950"}
is_a: MONDO:0018800 {source="MONDOLEX:0007844"} ! Kallmann syndrome
property_value: exactMatch DOID:0090083
property_value: exactMatch http://identifiers.org/omim/147950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563720

[Term]
id: MONDO:0007845
name: Kaposi sarcoma, susceptibility to
subset: predisposition
synonym: "Kaposi sarcoma, susceptibility to" EXACT [OMIM:148000]
synonym: "multicentric Castleman disease, susceptibility to" RELATED [OMIM:148000]
synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [OMIM:148000]
synonym: "susceptibility to Kaposi sarcoma" RELATED [OMIM:148000]
xref: OMIM:148000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005055 ! Kaposi's sarcoma (disease)
relationship: predisposes_towards MONDO:0005055 ! Kaposi's sarcoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3538945
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3541461
property_value: exactMatch http://identifiers.org/omim/148000

[Term]
id: MONDO:0007846
name: KBG syndrome
def: "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." [Orphanet:2332]
subset: gard_rare {source="GARD:0000082"}
subset: ordo_malformation_syndrome {source="Orphanet:2332"}
synonym: "KBG syndrome" EXACT [MONDO:Lexical, OMIM:148050]
synonym: "KBG syndrome; KBGS" RELATED [OMIM:148050]
synonym: "KBGS" RELATED [MONDO:Lexical, OMIM:148050]
synonym: "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" RELATED [OMIM:148050]
synonym: "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" RELATED [GARD:0000082]
synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332]
xref: DOID:14780 {source="MONDO:equivalentTo"}
xref: GARD:0000082 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2332", source="ORDO:2332/attributed", source="ORDO:2332/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537015 {source="ORDO:2332/e", source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148050 {source="ORDO:2332/e", source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo"}
xref: Orphanet:2332 {source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"}
xref: SCTID:711156009 {source="DOID:14780", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0220687 {source="ORDO:2332/e", source="Orphanet:2332", source="NCBI:mim2gene_medline", source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2332", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015336 {source="Orphanet:2332"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch DOID:14780
property_value: exactMatch http://identifiers.org/mesh/C537015
property_value: exactMatch http://identifiers.org/omim/148050
property_value: exactMatch http://identifiers.org/snomedct/711156009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220687
property_value: exactMatch Orphanet:2332
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome xsd:anyURI {source="GARD:0000082"}

[Term]
id: MONDO:0007847
name: keloid formation
synonym: "keloid formation" EXACT [OMIM:148100]
xref: OMIM:148100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022548
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149494
property_value: exactMatch http://identifiers.org/omim/148100

[Term]
id: MONDO:0007848
name: autosomal dominant keratitis
def: "Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia." [Orphanet:2334]
subset: ordo_disease {source="Orphanet:2334"}
synonym: "dominantly inherited keratitis" RELATED [GARD:0003089]
synonym: "hereditary keratitis" EXACT [Orphanet:2334]
synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "keratitis, hereditary" RELATED [OMIM:148190]
xref: GARD:0003089 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H16.8 {source="Orphanet:2334", source="ORDO:2334/attributed", source="ORDO:2334/ntbt"}
xref: MESH:C537022 {source="ORDO:2334/e", source="Orphanet:2334", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148190 {source="ORDO:2334/e", source="Orphanet:2334", source="MONDO:equivalentTo"}
xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"}
xref: SCTID:715339004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1835698 {source="ORDO:2334/e", source="NCBI:mim2gene_medline", source="Orphanet:2334", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="OMIM:148190"}
xref: UMLS:C4017065 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN068649 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0003085 {source="MESH:C537022", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! keratitis
is_a: MONDO:0018102 {source="Orphanet:2334"} ! corneal dystrophy (disease)
property_value: exactMatch http://identifiers.org/mesh/C537022
property_value: exactMatch http://identifiers.org/omim/148190
property_value: exactMatch http://identifiers.org/snomedct/715339004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4017065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN068649
property_value: exactMatch Orphanet:2334

[Term]
id: MONDO:0007849
name: keratitis fugax hereditaria
synonym: "KEFH" RELATED [OMIM:148200]
synonym: "keratitis fugax hereditaria" EXACT [OMIM:148200]
synonym: "Keratoendotheliitis fugax hereditaria" RELATED [OMIM:148200]
synonym: "KERATOENDOTHELIITIS fugax hereditaria; KEFH" RELATED [OMIM:148200]
xref: MESH:C563650 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148200 {source="MONDO:equivalentTo"}
xref: UMLS:C1835697 {source="NCBI:mim2gene_medline", source="OMIM:148200", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563650
property_value: exactMatch http://identifiers.org/omim/148200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835697

[Term]
id: MONDO:0007850
name: autosomal dominant keratitis-ichthyosis-deafness syndrome
def: "Autosomal dominant form of KID syndrome." [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant KID syndrome" EXACT [DOID:0060871]
synonym: "keratitis-ichthyosis-deafness syndrome, autosomal dominant" RELATED [OMIM:148210]
synonym: "KID syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Kid syndrome, autosomal dominant" RELATED [OMIM:148210]
xref: DOID:0060871 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.8 {source="DOID:0060871"}
xref: OMIM:148210 {source="DOID:0060871", source="MONDO:equivalentTo"}
is_a: MONDO:0018781 ! KID syndrome
is_a: MONDO:0020094 ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835678
property_value: exactMatch DOID:0060871
property_value: exactMatch http://identifiers.org/omim/148210

[Term]
id: MONDO:0007851
name: keratoconus 1
def: "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "keratoconus (disease) caused by mutation in VSX1" EXACT []
synonym: "keratoconus 1" EXACT [MONDO:Lexical, OMIM:148300]
synonym: "keratoconus 1; KTCN1" RELATED [OMIM:148300]
synonym: "keratoconus type 1" EXACT [MONDORULE:1, OMIM:148300]
synonym: "KTCN1" RELATED [MONDO:Lexical, OMIM:148300]
synonym: "VSX1 keratoconus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MESH:C563649 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148300 {source="MONDO:equivalentTo"}
xref: UMLS:C1835677 {source="OMIM:148300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DC-OMIM:148300", source="MESH:C563649", source="MONDO:Redundant", source="OMIM:148300"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/mesh/C563649
property_value: exactMatch http://identifiers.org/omim/148300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835677

[Term]
id: MONDO:0007852
name: palmoplantar keratoderma-deafness syndrome
def: "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma (see these terms). A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans (see these terms) may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." [Orphanet:2202]
subset: ordo_disease {source="Orphanet:2202"}
synonym: "diffuse palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094]
synonym: "focal palmoplantar keratoderma with sensorineural deafness (subtype)" RELATED [GARD:0003094]
synonym: "hereditary palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094]
synonym: "keratoderma palmoplantar deafness" RELATED [GARD:0003094]
synonym: "keratoderma palmoplantar, with deafness" RELATED [GARD:0003094]
synonym: "keratoderma, palmoplantar, with deafness" RELATED [OMIM:148350]
synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [Orphanet:2202]
synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [Orphanet:2202]
synonym: "palmoplantar keratoderma and sensorineural deafness" RELATED [GARD:0003094]
synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202]
synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202]
xref: GARD:0003094 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:2202", source="ORDO:2202/attributed", source="ORDO:2202/ntbt"}
xref: MESH:C536152 {source="ORDO:2202/e", source="Orphanet:2202", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148350 {source="ORDO:2202/e", source="Orphanet:2202", source="MONDO:equivalentTo"}
xref: Orphanet:2202 {source="OMIM:148350", source="MONDO:equivalentTo"}
xref: UMLS:C1835672 {source="OMIM:148350", source="ORDO:2202/e", source="NCBI:mim2gene_medline", source="Orphanet:2202", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019589 {source="Orphanet:2202"} ! syndromic genetic deafness
is_a: MONDO:0020094 {source="Orphanet:2202"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536152
property_value: exactMatch http://identifiers.org/omim/148350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835672
property_value: exactMatch Orphanet:2202

[Term]
id: MONDO:0007853
name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
subset: ordo_disease
synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [OMIM:148360]
synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [OMIM:148360]
synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [OMIM:148360]
synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" RELATED [OMIM:148360]
xref: MESH:C536153 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148360 {source="MONDO:equivalentTo", source="Orphanet:538574"}
xref: Orphanet:538574 {source="MONDO:equivalentTo"}
is_a: MONDO:0015360 {source="Orphanet:538574"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
is_a: MONDO:0020094 {source="Orphanet:538574"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536153
property_value: exactMatch http://identifiers.org/omim/148360
property_value: exactMatch Orphanet:538574

[Term]
id: MONDO:0007854
name: keratolytic winter erythema
def: "Keratolytic winter erythema is a rare epidermal disease (see this term), characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." [Orphanet:50943]
subset: gard_rare {source="GARD:0008275"}
subset: ordo_disease {source="Orphanet:50943"}
synonym: "Erythrokeratolysis hiemalis" EXACT [Orphanet:50943]
synonym: "Erythrokeratolysis hiemalis ichthyosis" RELATED [GARD:0008275]
synonym: "keratolytic winter erythema" EXACT [MONDO:Lexical, OMIM:148370]
synonym: "keratolytic WINTER erythema; KWE" RELATED [OMIM:148370]
synonym: "KWE" RELATED [MONDO:Lexical, OMIM:148370]
synonym: "Oudtshoorn disease" EXACT [Orphanet:50943]
synonym: "Oudtshoorn skin" RELATED [GARD:0008275]
synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370]
xref: GARD:0008275 {source="MONDO:equivalentTo"}
xref: ICD9:695.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536155 {source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943", source="MONDO:ontobio"}
xref: OMIM:148370 {source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943"}
xref: Orphanet:50943 {source="MONDO:equivalentTo", source="OMIM:148370"}
xref: SCTID:239064000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943", source="OMIM:148370"}
is_a: MONDO:0019274 {source="Orphanet:50943"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:50943"} ! other genetic epidermal disease
property_value: exactMatch http://identifiers.org/mesh/C536155
property_value: exactMatch http://identifiers.org/omim/148370
property_value: exactMatch http://identifiers.org/snomedct/239064000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406756
property_value: exactMatch Orphanet:50943
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema xsd:anyURI {source="GARD:0008275"}

[Term]
id: MONDO:0007855
name: keratosis, familial actinic
synonym: "keratosis, familial actinic" EXACT [OMIM:148390]
xref: MESH:C567190 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148390 {source="MONDO:equivalentTo"}
xref: UMLS:C2675099 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148390"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567190
property_value: exactMatch http://identifiers.org/omim/148390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675099

[Term]
id: MONDO:0007856
name: palmoplantar keratoderma-esophageal carcinoma syndrome
def: "Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer . The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." [GARD:0003102]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2198"}
synonym: "Bennion-Patterson syndrome" EXACT [Orphanet:2198]
synonym: "howel-Evans syndrome" RELATED [GARD:0003102]
synonym: "Howell-Evans syndrome" EXACT [Orphanet:2198]
synonym: "keratosis palmaris Et plantaris with esophageal cancer" RELATED [OMIM:148500]
synonym: "keratosis palmaris et plantaris with esophageal cancer" RELATED [GARD:0003102]
synonym: "keratosis palmoplantaris with esophageal cancer" RELATED [GARD:0003102]
synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [Orphanet:2198]
synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198]
synonym: "palmoplantar keratoderma with esophageal cancer" RELATED [OMIM:148500]
synonym: "palmoplantar keratoderma-esophageal carcinoma syndrome" EXACT [GARD:0003102]
synonym: "Toc" RELATED [GARD:0003102, MONDO:Lexical, OMIM:148500]
synonym: "tylosis - oesophageal carcinoma" RELATED [GARD:0003102]
synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical, OMIM:148500]
synonym: "tylosis with esophageal cancer; Toc" RELATED [OMIM:148500]
synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198]
xref: GARD:0003102 {source="MONDO:equivalentTo"}
xref: MESH:C536164 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="ORDO:2198/e"}
xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"}
xref: SCTID:111030006 {source="MONDO:equivalentTo"}
is_a: MONDO:0015617 {source="Orphanet:2198"} ! genetic gastro-esophageal disease
is_a: MONDO:0020095 {source="Orphanet:2198"} ! autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536164
property_value: exactMatch http://identifiers.org/omim/148500
property_value: exactMatch http://identifiers.org/snomedct/111030006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835664
property_value: exactMatch Orphanet:2198
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer xsd:anyURI {source="GARD:0003102"}

[Term]
id: MONDO:0007857
name: keratosis palmaris et plantaris-clinodactyly syndrome
def: "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." [Orphanet:86919]
subset: ordo_disease {source="Orphanet:86919"}
synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520]
synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919]
xref: ICD10:Q82.8 {source="ORDO:86919/attributed", source="ORDO:86919/ntbt", source="Orphanet:86919"}
xref: MESH:C563646 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148520 {source="MONDO:equivalentTo", source="ORDO:86919/e", source="Orphanet:86919"}
xref: Orphanet:86919 {source="OMIM:148520", source="MONDO:equivalentTo"}
xref: UMLS:C1835663 {source="OMIM:148520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:86919"}
is_a: MONDO:0020094 {source="Orphanet:86919"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C563646
property_value: exactMatch http://identifiers.org/omim/148520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835663
property_value: exactMatch Orphanet:86919

[Term]
id: MONDO:0007858
name: palmoplantar keratoderma, punctate type 1A
def: "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AAGAB punctate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [OMIM:148600]
synonym: "keratosis palmoplantaris papulosa" RELATED [OMIM:148600]
synonym: "Kppp1" RELATED [OMIM:148600]
synonym: "palmoplantar keratoderma, punctate type 1" RELATED [OMIM:148600]
synonym: "palmoplantar keratoderma, punctate type IA" RELATED [MONDO:Lexical, OMIM:148600]
synonym: "palmoplantar keratoderma, punctate type IA; PPKP1A" RELATED [OMIM:148600]
synonym: "PPKP1A" RELATED [MONDO:Lexical, OMIM:148600]
synonym: "punctate palmoplantar keratoderma caused by mutation in AAGAB" EXACT [MONDO:design_pattern]
synonym: "punctate palmoplantar keratoderma type 1A" RELATED [DOID:0080214]
xref: DOID:0080214 {source="MONDO:equivalentTo"}
xref: OMIM:148600 {source="MONDO:equivalentTo", source="DOID:0080214"}
is_a: MONDO:0019332 {source="ORDO:79501/btnt"} ! punctate palmoplantar keratoderma type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835662
property_value: exactMatch DOID:0080214
property_value: exactMatch http://identifiers.org/omim/148600

[Term]
id: MONDO:0007859
name: palmoplantar keratoderma i, striate, focal, or diffuse
synonym: "keratoderma, palmoplantar striate form 1" RELATED [GARD:0009172]
synonym: "keratoderma, palmoplantar, striate form 1" RELATED [OMIM:148700]
synonym: "keratosis palmoplantaris striata 1" RELATED [OMIM:148700]
synonym: "palmoplantar keratoderma i, striate, focal, or diffuse" EXACT [MONDO:Lexical, OMIM:148700]
synonym: "palmoplantar keratoderma I, striate, focal, or diffuse; PPKS1" RELATED [OMIM:148700]
synonym: "PPKS1" RELATED [MONDO:Lexical, OMIM:148700]
synonym: "SPPK1" RELATED [GARD:0009172]
synonym: "striate palmoplantar keratoderma 1" RELATED [OMIM:148700]
xref: GARD:0009172 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536162 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148700 {source="MONDO:equivalentTo"}
is_a: MONDO:0018865 {source="DC-OMIM:148700"} ! striate palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835661
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931122
property_value: exactMatch http://identifiers.org/mesh/C536162
property_value: exactMatch http://identifiers.org/omim/148700

[Term]
id: MONDO:0007860
name: focal palmoplantar and gingival keratoderma
def: "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." [Orphanet:2200]
subset: gard_rare {source="GARD:0003098"}
subset: ordo_disease {source="Orphanet:2200"}
synonym: "focal palmoplantar and gingival hyperkeratosis" EXACT [Orphanet:2200]
synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [OMIM:148730]
synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:0003098]
synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098]
synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730]
xref: GARD:0003098 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2200", source="ORDO:2200/attributed", source="ORDO:2200/ntbt"}
xref: MESH:C536157 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:148730 {source="ORDO:2200/e", source="Orphanet:2200", source="MONDO:equivalentTo"}
xref: Orphanet:2200 {source="MONDO:equivalentTo", source="OMIM:148730"}
xref: SCTID:764963007 {source="MONDO:equivalentTo"}
xref: UMLS:C1835650 {source="Orphanet:2200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148730", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0020095 {source="Orphanet:2200"} ! autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536157
property_value: exactMatch http://identifiers.org/omim/148730
property_value: exactMatch http://identifiers.org/snomedct/764963007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835650
property_value: exactMatch Orphanet:2200
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma xsd:anyURI {source="GARD:0003098"}

[Term]
id: MONDO:0007861
name: isolated cloverleaf skull syndrome
def: "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." [Orphanet:2343]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:2343"}
synonym: "cloverleaf skull" RELATED [OMIM:148800]
synonym: "cloverleaf skull syndrome" RELATED [GARD:0003115, MESH:C536884]
synonym: "isolated cloverleaf skull syndrome" EXACT [GARD:0003115]
synonym: "Kleeblattschadel" RELATED [OMIM:148800]
synonym: "KLEEBLATTSCHAEDEL" RELATED [OMIM:148800]
synonym: "Kleeblattschaedel deformity syndrome" RELATED [GARD:0003115]
synonym: "Kleeblattschaedel syndrome" RELATED [GARD:0003115]
synonym: "Kleeblattschaedel-deformity syndrome" RELATED [MESH:C536884]
xref: GARD:0003115 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2343", source="ORDO:2343/attributed", source="ORDO:2343/ntbt"}
xref: MESH:C536884 {source="MONDO:equivalentTo"}
xref: OMIM:148800 {source="ORDO:2343/e", source="GARD:0003115", source="Orphanet:2343", source="MONDO:equivalentTo"}
xref: Orphanet:2343 {source="MONDO:equivalentTo", source="OMIM:148800"}
xref: SCTID:254022009 {source="MONDO:equivalentTo"}
xref: UMLS:CN201565 {source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:2343"} ! isolated craniosynostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432126
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860050
property_value: exactMatch http://identifiers.org/mesh/C536884
property_value: exactMatch http://identifiers.org/omim/148800
property_value: exactMatch http://identifiers.org/snomedct/254022009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201565
property_value: exactMatch Orphanet:2343
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome xsd:anyURI {source="GARD:0003115"}

[Term]
id: MONDO:0007862
name: Waardenburg syndrome type 3
def: "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." [Orphanet:896]
subset: gard_rare {source="GARD:0005523"}
subset: ordo_clinical_subtype {source="Orphanet:896"}
synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, Orphanet:896]
synonym: "Waardenburg syndrome type III" EXACT [DOID:0110949, Orphanet:896]
synonym: "Waardenburg syndrome with limb anomalies" EXACT [Orphanet:896]
synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [DOID:0110949, OMIM:148820]
synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical, OMIM:148820]
synonym: "Waardenburg syndrome, type 3; WS3" RELATED [OMIM:148820]
synonym: "White forelock (poliosis) syndrome with multiple congenital malformations" RELATED [GARD:0005523]
synonym: "WS3" EXACT [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896]
xref: DOID:0110949 {source="MONDO:equivalentTo"}
xref: GARD:0005523 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="DOID:0110949", source="ORDO:896/attributed", source="ORDO:896/ntbt"}
xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="DOID:0110949", source="ORDO:896/e"}
xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source="OMIM:148820"}
is_a: MONDO:0018094 {source="DC-OMIM:148820", source="DOID:0110949", source="OMIM:148820", source="Orphanet:896"} ! Waardenburg syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079661
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342680
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0599973
property_value: exactMatch DOID:0110949
property_value: exactMatch http://identifiers.org/omim/148820
property_value: exactMatch Orphanet:896
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 xsd:anyURI {source="GARD:0005523"}

[Term]
id: MONDO:0007863
name: Kleine-Levin syndrome
def: "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances." [Orphanet:33543]
subset: gard_rare {source="GARD:0003117"}
subset: ordo_disease {source="Orphanet:33543"}
synonym: "familial hibernation syndrome" RELATED [GARD:0003117]
synonym: "familial Kleine-Levin syndrome" RELATED [GARD:0003117]
synonym: "Kleine Levin syndrome" RELATED [GARD:0003117]
synonym: "Kleine-LEVIN hibernation syndrome" RELATED [OMIM:148840]
synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840]
xref: DOID:0060165 {source="MONDO:equivalentTo"}
xref: EFO:1001354 {source="MONDO:equivalentTo"}
xref: GARD:0003117 {source="MONDO:equivalentTo"}
xref: ICD10:G47.8 {source="Orphanet:33543", source="ORDO:33543/ntbt"}
xref: MedDRA:10053712 {source="Orphanet:33543", source="ORDO:33543/e"}
xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:33543/e"}
xref: NCIT:C84800 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:148840 {source="Orphanet:33543", source="MONDO:equivalentTo", source="ORDO:33543/e"}
xref: Orphanet:33543 {source="MONDO:equivalentTo", source="OMIM:148840"}
xref: SCTID:111488004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206085 {source="Orphanet:33543", source="NCIT:C84800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148840", source="ORDO:33543/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0007863", source="NCIT:C84800"} ! syndromic disease
is_a: MONDO:0004617 {source="DOID:0060165"} ! recurrent hypersomnia
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: exactMatch DOID:0060165
property_value: exactMatch http://identifiers.org/meddra/10053712
property_value: exactMatch http://identifiers.org/mesh/D017593
property_value: exactMatch http://identifiers.org/omim/148840
property_value: exactMatch http://identifiers.org/snomedct/111488004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206085
property_value: exactMatch NCIT:C84800
property_value: exactMatch Orphanet:33543
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome xsd:anyURI {source="GARD:0003117"}

[Term]
id: MONDO:0007864
name: angioosteohypertrophic syndrome
def: "Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." [Orphanet:2346]
subset: gard_rare {source="GARD:0003122"}
subset: ordo_clinical_subtype {source="Orphanet:90308"}
subset: ordo_disease {source="Orphanet:2346"}
synonym: "angio-osteohypertrophy syndrome" RELATED [GARD:0003122]
synonym: "angioosteohypertrophy syndrome" EXACT [DOID:2926]
synonym: "angioosteohypertrophy syndrome" RELATED [OMIM:149000]
synonym: "haemangiectatic hypertrophy" EXACT [DOID:2926]
synonym: "Klippel Trenaunay syndrome" EXACT [GARD:0003122]
synonym: "Klippel-Trenaunay syndrome" EXACT [MONDO:0019566, OMIM:149000]
synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [DOID:2926, OMIM:149000, Orphanet:2346]
synonym: "Klippel-Trénaunay syndrome" EXACT [Orphanet:90308]
synonym: "Klippel-Trénaunay-Weber syndrome" EXACT []
synonym: "KTS" RELATED ABBREVIATION [GARD:0003122]
synonym: "Ktw syndrome" RELATED [OMIM:149000]
synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122]
xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"}
xref: EFO:0007334 {source="MONDO:equivalentTo"}
xref: GARD:0003122 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:90308", source="Orphanet:2346", source="ORDO:90308/inclusion", source="ORDO:2346/attributed", source="ORDO:2346/ntbt", source="DOID:2926", source="ORDO:90308/ntbt"}
xref: MedDRA:10051452 {source="Orphanet:90308", source="ORDO:90308/e"}
xref: MESH:D007715 {source="EFO:0007334", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2926"}
xref: NCIT:C84801 {source="MONDO:equivalentTo", source="DOID:2926", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:149000 {source="Orphanet:90308", source="Orphanet:2346", source="ORDO:2346/e", source="MONDO:equivalentTo", source="DOID:2926", source="ORDO:90308/ntbt"}
xref: Orphanet:2346 {source="OMIM:149000", source="MONDO:equivalentTo"}
xref: SCTID:721105004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.71"}
xref: UMLS:C0022739 {source="OMIM:149000", source="NCIT:C84801", source="Orphanet:2346", source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2926"}
xref: UMLS:CN201567 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:2926", source="MONDOLEX:0007864", source="NCIT:C84801"} ! syndromic disease
is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2346", source="Orphanet:2346/inferred"} ! genetic vascular anomaly
is_a: MONDO:0016235 {source="Orphanet:2346"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0016524 {source="Orphanet:2346"} ! congenital vascular bone syndrome
is_a: MONDO:0019293 {source="Orphanet:2346", source="linkedlifedata/inferred"} ! skin vascular disease
is_a: MONDO:0019716 {source="Orphanet:2346"} ! overgrowth syndrome
is_a: MONDO:0020063 {source="Orphanet:2346"} ! malformation syndrome with hamartosis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/59078009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931360
property_value: exactMatch DOID:2926
property_value: exactMatch http://identifiers.org/meddra/10051452
property_value: exactMatch http://identifiers.org/mesh/D007715
property_value: exactMatch http://identifiers.org/omim/149000
property_value: exactMatch http://identifiers.org/snomedct/721105004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201567
property_value: exactMatch NCIT:C84801
property_value: exactMatch Orphanet:2346
property_value: narrowMatch Orphanet:90308
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome xsd:anyURI {source="GARD:0003122"}

[Term]
id: MONDO:0007865
name: knuckle pads
synonym: "knuckle pads" EXACT [OMIM:149100]
xref: ICD10:M72.1 {source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:149100 {source="MONDO:equivalentTo"}
xref: SCTID:16687001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0264000 {source="OMIM:149100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/149100
property_value: exactMatch http://identifiers.org/snomedct/16687001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264000

[Term]
id: MONDO:0007866
name: Bart-Pumphrey syndrome
subset: ordo_disease {source="Orphanet:2698"}
synonym: "Bart-Pumphrey syndrome" EXACT [OMIM:149200, Orphanet:2698]
synonym: "knuckle pads, leuconychia and sensorineural deafness" RELATED [GARD:0003125]
synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [DOID:0050658, OMIM:149200]
synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [Orphanet:2698]
synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698]
xref: DOID:0050658 {source="MONDO:equivalentTo"}
xref: GARD:0003125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:2698", source="ORDO:2698/attributed", source="ORDO:2698/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537210 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:149200 {source="Orphanet:2698", source="ORDO:2698/e", source="MONDO:equivalentTo", source="DOID:0050658"}
xref: Orphanet:2698 {source="OMIM:149200", source="MONDO:equivalentTo"}
xref: SCTID:1271009 {source="MONDO:kboom-pr-1.00/0.79/8.02", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:2698"} ! syndromic genetic deafness
is_a: MONDO:0020094 {source="Orphanet:2698"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch DOID:0050658
property_value: exactMatch http://identifiers.org/mesh/C537210
property_value: exactMatch http://identifiers.org/omim/149200
property_value: exactMatch http://identifiers.org/snomedct/1271009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266004
property_value: exactMatch Orphanet:2698

[Term]
id: MONDO:0007867
name: nonsyndromic congenital nail disorder 2
synonym: "congenital koilonychia" RELATED [GARD:0009760]
synonym: "familial koilonychia" RELATED [GARD:0009760]
synonym: "hereditary koilonychia" RELATED [GARD:0009760]
synonym: "Koilonychia with leukonychia" RELATED [OMIM:149300]
synonym: "Koilonychia, hereditary" RELATED [OMIM:149300]
synonym: "nail disorder, nonsyndromic congenital, 2" RELATED [MONDO:Lexical, OMIM:149300]
synonym: "nail disorder, nonsyndromic congenital, 2; NDNC2" RELATED [OMIM:149300]
synonym: "NDNC2" RELATED [MONDO:Lexical, OMIM:149300]
synonym: "nonsyndromic congenital nail disorder type 2" EXACT [DOID:0080080, MONDORULE:1]
synonym: "spoon nails" RELATED [OMIM:149300]
xref: DOID:0080080 {source="MONDO:equivalentTo"}
xref: GARD:0009760 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537260 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:149300 {source="MONDO:equivalentTo", source="DOID:0080080"}
xref: SCTID:66270006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
is_a: MONDO:0019284 {source="DC-OMIM:149300", source="OMIM:149300"} ! inherited isolated nail anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835631
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276971
property_value: exactMatch DOID:0080080
property_value: exactMatch http://identifiers.org/mesh/C537260
property_value: exactMatch http://identifiers.org/omim/149300
property_value: exactMatch http://identifiers.org/snomedct/66270006

[Term]
id: MONDO:0007868
name: hyperekplexia 1
def: "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." [DOID:0060696, PMID:7881416, PMID:8298642]
synonym: "exaggerated startle reaction" RELATED [OMIM:149400]
synonym: "HKPX1" EXACT [DOID:0060696, MONDO:Lexical, OMIM:149400]
synonym: "hyperekplexia 1; HKPX1" RELATED [OMIM:149400]
synonym: "hyperekplexia type 1" EXACT [DOID:0060696, MONDORULE:1]
synonym: "hyperekplexia, hereditary 1" RELATED [MONDO:Lexical, OMIM:149400]
synonym: "hyperekplexia, hereditary 1; HKPX1" RELATED [OMIM:149400]
synonym: "hyperekplexia, hereditary type 1" EXACT [MONDORULE:1, OMIM:149400]
synonym: "Kok disease" RELATED [OMIM:149400]
synonym: "startle disease, familial" RELATED [OMIM:149400]
synonym: "startle reaction, exaggerated" RELATED [OMIM:149400]
synonym: "Sthe" RELATED [OMIM:149400]
synonym: "Stiff-baby syndrome" RELATED [OMIM:149400]
synonym: "Stiff-Man syndrome, congenital" RELATED [OMIM:149400]
synonym: "Stiff-Person syndrome, congenital" RELATED [OMIM:149400]
xref: DOID:0060696 {source="MONDO:equivalentTo"}
xref: ICD10:G25.8 {source="DOID:0060696"}
xref: OMIM:149400 {source="DOID:0060696", source="MONDO:equivalentTo"}
is_a: MONDO:0021022 {source="DOID:0060696", source="MONDOLEX:0007868", source="OMIM:149400"} ! hereditary hyperekplexia
property_value: closeMatch http://identifiers.org/mesh/D000071017
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835614
property_value: exactMatch DOID:0060696
property_value: exactMatch http://identifiers.org/omim/149400

[Term]
id: MONDO:0007869
name: Kyrle disease
def: "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus , kidney disease, liver abnormalities, and congestive heart failure . In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." [https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease]
subset: gard_rare {source="GARD:0009738"}
synonym: "hyperkeratosis follicularis et parafollicularis in cutem penetrans" RELATED [GARD:0009738]
synonym: "Kyrle disease" EXACT [OMIM:149500]
synonym: "Kyrle's disease" RELATED [GARD:0009738]
xref: GARD:0009738 {source="MONDO:equivalentTo"}
xref: MESH:C538130 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:149500 {source="MONDO:equivalentTo"}
xref: SCTID:34042008 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo"}
xref: UMLS:C0263382 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:149500"}
is_a: MONDO:0003847 {source="MESH:C538130/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538130
property_value: exactMatch http://identifiers.org/omim/149500
property_value: exactMatch http://identifiers.org/snomedct/34042008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease xsd:anyURI {source="GARD:0009738"}

[Term]
id: MONDO:0007870
name: labia minora, incomplete adhesion of
synonym: "labia minora, incomplete adhesion of" EXACT [OMIM:149600]
xref: OMIM:149600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835613
property_value: exactMatch http://identifiers.org/omim/149600

[Term]
id: MONDO:0007871
name: familial congenital nasolacrimal duct obstruction
subset: ordo_morphological_anomaly {source="Orphanet:451612"}
synonym: "lacrimal duct defect" RELATED [MONDO:Lexical, OMIM:149700]
synonym: "lacrimal duct defect; LCDD" RELATED [OMIM:149700]
synonym: "lacrimal puncta, absence of" RELATED [OMIM:149700]
synonym: "LCDD" RELATED [MONDO:Lexical, OMIM:149700]
synonym: "nasolacrimal duct obstruction" RELATED [OMIM:149700]
xref: ICD10:Q10.5 {source="ORDO:451612/ntbt", source="ORDO:451612/index", source="Orphanet:451612"}
xref: MESH:C566703 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:149700 {source="MONDO:equivalentTo", source="Orphanet:451612", source="ORDO:451612/e"}
xref: Orphanet:451612 {source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:451612"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:451612", source="Orphanet:451612/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0020195 {source="Orphanet:451612"} ! excretory apparatus of the lacrimal system anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835612
property_value: exactMatch http://identifiers.org/mesh/C566703
property_value: exactMatch http://identifiers.org/omim/149700
property_value: exactMatch Orphanet:451612

[Term]
id: MONDO:0007872
name: LADD syndrome
def: "Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." [Orphanet:2363]
subset: ordo_malformation_syndrome {source="Orphanet:2363"}
synonym: "Lacrimo-auriculo-dento-digital syndrome" RELATED [GARD:0006848]
synonym: "Lacrimoauriculodento-digital syndrome" RELATED [GARD:0006848]
synonym: "lacrimoauriculodentodigital syndrome" EXACT [DOID:0050331]
synonym: "lacrimoauriculodentodigital syndrome" RELATED [MONDO:Lexical, OMIM:149730]
synonym: "LACRIMOAURICULODENTODIGITAL syndrome; LADD" RELATED [OMIM:149730]
synonym: "Lacrimoauriculoradiodental syndrome" EXACT [Orphanet:2363]
synonym: "LADD" RELATED [MONDO:Lexical, OMIM:149730]
synonym: "LADD syndrome" EXACT [Orphanet:2363]
synonym: "lard syndrome" EXACT [Orphanet:2363]
synonym: "levy Hollister syndrome" RELATED [GARD:0006848]
synonym: "levy-Hollister syndrome" EXACT [DOID:0050331, OMIM:149730, Orphanet:2363]
xref: DOID:0050331 {source="MONDO:equivalentTo"}
xref: GARD:0006848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2363", source="ORDO:2363/attributed", source="ORDO:2363/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538132 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:149730 {source="DOID:0050331", source="Orphanet:2363", source="MONDO:equivalentTo", source="ORDO:2363/e"}
xref: Orphanet:2363 {source="OMIM:149730", source="MONDO:equivalentTo"}
xref: SCTID:23817003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265269 {source="Orphanet:2363", source="MEDGEN:kboom-pr97-c99", source="OMIM:149730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2363/e"}
is_a: MONDO:0000426 {source="DOID:0050331", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015336 {source="Orphanet:2363"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015503 {source="Orphanet:2363"} ! nose and cavum anomaly
is_a: MONDO:0017434 {source="Orphanet:2363"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018562 {source="Orphanet:2363", source="Orphanet:2363/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0020197 {source="Orphanet:2363"} ! EEC syndrome and related syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2363"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0050331
property_value: exactMatch http://identifiers.org/mesh/C538132
property_value: exactMatch http://identifiers.org/omim/149730
property_value: exactMatch http://identifiers.org/snomedct/23817003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265269
property_value: exactMatch Orphanet:2363

[Term]
id: MONDO:0007873
name: lactic acidosis, chronic adult form
synonym: "lactic acidosis, chronic adult form" EXACT [OMIM:150170]
xref: MESH:C563640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150170 {source="MONDO:equivalentTo"}
xref: UMLS:C1835591 {source="OMIM:150170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563640
property_value: exactMatch http://identifiers.org/omim/150170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835591

[Term]
id: MONDO:0007874
name: trichorhinophalangeal syndrome type II
def: "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." [Orphanet:502]
subset: ordo_malformation_syndrome {source="Orphanet:502"}
synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [OMIM:150230]
synonym: "deletion 8q24.1" EXACT [Orphanet:502]
synonym: "Giedion-Langer syndrome" RELATED [GARD:0007801]
synonym: "Langer Giedion syndrome" RELATED [GARD:0007801]
synonym: "Langer-Giedion syndrome" EXACT [DOID:4998, OMIM:150230]
synonym: "monosomy 8q24.1" EXACT [Orphanet:502]
synonym: "trichorhinophalangeal dysplasia type II" EXACT [DOID:4998]
synonym: "trichorhinophalangeal syndrome type 2" EXACT [Orphanet:502]
synonym: "trichorhinophalangeal syndrome, type 2" RELATED [OMIM:150230]
synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical, OMIM:150230]
synonym: "trichorhinophalangeal syndrome, type II; TRPS2" RELATED [OMIM:150230]
synonym: "TRPS 2" RELATED [GARD:0007801]
synonym: "TRPS2" RELATED [MONDO:Lexical, OMIM:150230]
xref: DOID:4998 {source="MONDO:equivalentTo"}
xref: GARD:0007801 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:502", source="ORDO:502/attributed", source="ORDO:502/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050638 {source="ORDO:502/e", source="Orphanet:502"}
xref: MESH:D015826 {source="ORDO:502/e", source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75118 {source="DOID:4998", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:150230 {source="ORDO:502/e", source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo"}
xref: Orphanet:502 {source="MONDO:equivalentTo", source="OMIM:150230"}
xref: SCTID:41069008 {source="DOID:4998", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023003 {source="NCIT:C75118", source="ORDO:502/e", source="Orphanet:502", source="NCBI:mim2gene_medline", source="DOID:4998", source="MONDO:equivalentTo", source="OMIM:150230"}
is_a: MONDO:0000426 {source="DOID:4998", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:502"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016907 {source="MONDOLEX:0007874", source="Orphanet:502"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0017951 {source="Orphanet:502", source="linkedlifedata"} ! trichorhinophalangeal syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
disjoint_from: MONDO:0019176 ! trichorhinophalangeal syndrome type I or III
property_value: closeMatch http://identifiers.org/snomedct/239017000
property_value: exactMatch DOID:4998
property_value: exactMatch http://identifiers.org/meddra/10050638
property_value: exactMatch http://identifiers.org/mesh/C536555
property_value: exactMatch http://identifiers.org/mesh/D015826
property_value: exactMatch http://identifiers.org/omim/150230
property_value: exactMatch http://identifiers.org/snomedct/41069008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931237
property_value: exactMatch NCIT:C75118
property_value: exactMatch Orphanet:502

[Term]
id: MONDO:0007875
name: Larsen syndrome
def: "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." [Orphanet:503]
subset: gard_rare {source="GARD:0006860"}
subset: ordo_malformation_syndrome {source="Orphanet:503"}
synonym: "autosomal dominant Larsen syndrome" RELATED [GARD:0006860]
synonym: "dominant Larsen syndrome" EXACT [DOID:14764]
synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250]
synonym: "Larsen syndrome; LRS" RELATED [OMIM:150250]
synonym: "LRS" RELATED [MONDO:Lexical, OMIM:150250]
xref: DOID:14764 {source="MONDO:equivalentTo"}
xref: GARD:0006860 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:503", source="ORDO:503/inclusion", source="ORDO:503/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580241 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150250 {source="ORDO:503/e", source="Orphanet:503", source="MONDO:equivalentTo", source="DOID:14764"}
xref: Orphanet:503 {source="MONDO:equivalentTo", source="OMIM:150250"}
xref: SCTID:63387002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0175778 {source="Orphanet:503", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:14764", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015332 {source="Orphanet:503"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015335 {source="Orphanet:503"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019690 {source="Orphanet:503"} ! filamin-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:503"} ! primary bone dysplasia with multiple joint dislocations
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835564
property_value: exactMatch DOID:14764
property_value: exactMatch http://identifiers.org/mesh/C580241
property_value: exactMatch http://identifiers.org/omim/150250
property_value: exactMatch http://identifiers.org/snomedct/63387002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175778
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931648
property_value: exactMatch Orphanet:503
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome xsd:anyURI {source="GARD:0006860"}

[Term]
id: MONDO:0007876
name: laryngeal abductor paralysis
comment: Autosomal dominant based on information from Joanna. {source="OMIM:150260"}
subset: ordo_malformation_syndrome {source="Orphanet:2808"}
synonym: "familial vocal cord dysfunction" EXACT [Orphanet:2808]
synonym: "Gerhardt syndrome" EXACT [OMIM:150260, Orphanet:2808]
synonym: "Labd" RELATED [OMIM:150260]
synonym: "laryngeal abductor paralysis" EXACT [OMIM:150260]
synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509]
synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260]
xref: GARD:0005509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:J38.0 {source="Orphanet:2808", source="ORDO:2808/attributed", source="ORDO:2808/ntbt"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="ORDO:2808/e"}
xref: Orphanet:2808 {source="MONDO:equivalentTo", source="OMIM:150260"}
xref: SCTID:232442001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:CN202762 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0010639 ! laryngeal abductor paralysis-intellectual disability syndrome
is_a: MONDO:0015504 {source="Orphanet:2808"} ! larynx anomaly
is_a: MONDO:0018562 {source="Orphanet:2808", source="Orphanet:2808/inferred"} ! genetic otorhinolaryngological malformation
property_value: exactMatch http://identifiers.org/omim/150260
property_value: exactMatch http://identifiers.org/snomedct/232442001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0396059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202762
property_value: exactMatch Orphanet:2808

[Term]
id: MONDO:0007877
name: LAP
synonym: "LAP" EXACT [MONDO:Lexical, OMIM:150270]
synonym: "laryngeal adductor paralysis" RELATED [MONDO:Lexical, OMIM:150270]
synonym: "laryngeal adductor paralysis; LAP" RELATED [OMIM:150270]
synonym: "vocal cord dysfunction, adductor type" RELATED [OMIM:150270]
xref: MESH:C562861 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150270 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0396060
property_value: exactMatch http://identifiers.org/mesh/C562861
property_value: exactMatch http://identifiers.org/omim/150270

[Term]
id: MONDO:0007878
name: congenital laryngomalacia
def: "Increased collapsibility of the larynx." [NCIT:C98971]
subset: ordo_malformation_syndrome {source="Orphanet:2373"}
synonym: "congenital laryngeal stridor" RELATED [GARD:0006865]
synonym: "laryngomalacia" RELATED [OMIM:150280]
synonym: "laryngomalacia congenital" RELATED [GARD:0006865]
xref: COHD:4113306 {source="MONDO:equivalentTo"}
xref: GARD:0006865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q31.5 {source="MONDO:equivalentTo", source="ORDO:2373/specific", source="Orphanet:2373", source="ORDO:2373/e"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10060786 {source="Orphanet:2373", source="ORDO:2373/e"}
xref: MESH:D055092 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2373", source="ORDO:2373/e"}
xref: NCIT:C98971 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.16"}
xref: OMIM:150280 {source="MONDO:equivalentTo", source="Orphanet:2373", source="ORDO:2373/e"}
xref: Orphanet:2373 {source="OMIM:150280", source="MONDO:equivalentTo"}
xref: SCTID:253737007 {source="MONDO:kboom-pr-0.91/0.68/1.41", source="MONDO:equivalentTo"}
is_a: MONDO:0015504 {source="Orphanet:2373"} ! larynx anomaly
is_a: MONDO:0018562 {source="Orphanet:2373", source="Orphanet:2373/inferred"} ! genetic otorhinolaryngological malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264303
property_value: exactMatch http://identifiers.org/meddra/10060786
property_value: exactMatch http://identifiers.org/mesh/D055092
property_value: exactMatch http://identifiers.org/omim/150280
property_value: exactMatch http://identifiers.org/snomedct/253737007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345160
property_value: exactMatch NCIT:C98971
property_value: exactMatch Orphanet:2373

[Term]
id: MONDO:0007879
name: larynx atresia
def: "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." [NCIT:C98972]
subset: ordo_malformation_syndrome {source="Orphanet:1202"}
synonym: "congenital atresia of larynx" EXACT [NCIT:C98972]
synonym: "congenital atresia of the larynx" EXACT [NCIT:C98972]
synonym: "congenital partial atresia of the larynx" RELATED [GARD:0003192]
synonym: "laryngeal atresia" EXACT [NCIT:C98972]
synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300]
xref: GARD:0003192 {source="shared-xref", source="MONDO:equivalentTo"}
xref: GARD:0003194 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q31.8 {source="Orphanet:1202", source="ORDO:1202/ntbt", source="ORDO:1202/inclusion"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563637 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98972 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:150300 {source="Orphanet:1202", source="ORDO:1202/e", source="MONDO:equivalentTo"}
xref: Orphanet:1202 {source="MONDO:equivalentTo", source="OMIM:150300"}
xref: SCTID:64981002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C0265756 {source="Orphanet:1202", source="ORDO:1202/e", source="MONDO:equivalentTo", source="NCIT:C98972"}
is_a: MONDO:0015504 {source="Orphanet:1202"} ! larynx anomaly
is_a: MONDO:0018562 {source="Orphanet:1202", source="Orphanet:1202/inferred"} ! genetic otorhinolaryngological malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835555
property_value: exactMatch http://identifiers.org/mesh/C563637
property_value: exactMatch http://identifiers.org/omim/150300
property_value: exactMatch http://identifiers.org/snomedct/64981002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265756
property_value: exactMatch NCIT:C98972
property_value: exactMatch Orphanet:1202

[Term]
id: MONDO:0007880
name: congenital laryngeal web
def: "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [Orphanet:2374]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2374"}
synonym: "gay Feinmesser Cohen syndrome" RELATED [GARD:0002446]
synonym: "glottic web, congenital anterior" RELATED [OMIM:150360]
synonym: "Laryngeal web" EXACT [NCIT:C98970]
synonym: "laryngeal web, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676]
synonym: "laryngeal web, familial" RELATED [OMIM:150360]
synonym: "subglottic Bar" RELATED [OMIM:150360]
synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676]
synonym: "subglottic web" RELATED [OMIM:150360]
xref: GARD:0002446 {source="MONDO:equivalentTo"}
xref: ICD10:Q31.0 {source="Orphanet:2374", source="ORDO:2374/specific", source="ORDO:2374/e"}
xref: MedDRA:10023871 {source="Orphanet:2374", source="ORDO:2374/e"}
xref: MESH:C537676 {source="MONDO:equivalentTo"}
xref: MESH:C563636 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98970 {source="MONDO:equivalentTo"}
xref: OMIM:150360 {source="Orphanet:2374", source="MONDO:equivalentTo", source="ORDO:2374/e"}
xref: Orphanet:2374 {source="MONDO:equivalentTo", source="OMIM:150360"}
xref: SCTID:444921008 {source="MONDO:kboom-pr-0.74/0.44/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0007880"} ! syndromic disease
is_a: MONDO:0015504 {source="Orphanet:2374"} ! larynx anomaly
is_a: MONDO:0018562 {source="Orphanet:2374", source="Orphanet:2374/inferred"} ! genetic otorhinolaryngological malformation
property_value: closeMatch http://identifiers.org/omim/185400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0281890
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835494
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931586
property_value: exactMatch http://identifiers.org/meddra/10023871
property_value: exactMatch http://identifiers.org/mesh/C537676
property_value: exactMatch http://identifiers.org/mesh/C563636
property_value: exactMatch http://identifiers.org/omim/150360
property_value: exactMatch http://identifiers.org/snomedct/444921008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152416
property_value: exactMatch NCIT:C98970
property_value: exactMatch Orphanet:2374
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome xsd:anyURI {source="GARD:0002446"}

[Term]
id: MONDO:0007881
name: tooth agenesis, selective, 4
def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "lateral incisors, absence of" RELATED [OMIM:150400]
synonym: "lateral incisors, pegged or missing" RELATED [OMIM:150400]
synonym: "STHAG4" RELATED [MONDO:Lexical, OMIM:150400]
synonym: "succedaneous teeth, agenesis of" RELATED [OMIM:150400]
synonym: "tooth agenesis caused by mutation in WNT10A" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 4" EXACT [MONDO:Lexical, OMIM:150400]
synonym: "tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [OMIM:150400]
synonym: "tooth agenesis, selective, 4; STHAG4" RELATED [OMIM:150400]
synonym: "tooth agenesis, selective, type 4" EXACT [MONDORULE:1, OMIM:150400]
synonym: "WNT10A tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563634 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150400 {source="MONDO:equivalentTo"}
is_a: MONDO:0005486 {source="DC-OMIM:150400", source="MONDO:Redundant", source="OMIM:150400"} ! tooth agenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835492
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835493
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/mesh/C563634
property_value: exactMatch http://identifiers.org/omim/150400

[Term]
id: MONDO:0007882
name: lattice degeneration of retina leading to retinal detachment
synonym: "lattice degeneration of retina leading to retinal detachment" EXACT [OMIM:150500]
xref: MESH:C563633 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150500 {source="MONDO:equivalentTo"}
xref: UMLS:C1835491 {source="OMIM:150500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563633
property_value: exactMatch http://identifiers.org/omim/150500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835491

[Term]
id: MONDO:0007883
name: lazy leukocyte syndrome
synonym: "lazy leukocyte syndrome" EXACT [OMIM:150550]
xref: ICD9:288.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562721 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150550 {source="MONDO:equivalentTo"}
xref: SCTID:71436005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34"}
xref: UMLS:C0272174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:150550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562721
property_value: exactMatch http://identifiers.org/omim/150550
property_value: exactMatch http://identifiers.org/snomedct/71436005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272174

[Term]
id: MONDO:0007884
name: leg ulcers, familial, of juvenile onset
synonym: "leg ulcers, familial, of juvenile onset" EXACT [OMIM:150590]
xref: MESH:C563632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150590 {source="MONDO:equivalentTo"}
xref: UMLS:C1835489 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:150590"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563632
property_value: exactMatch http://identifiers.org/omim/150590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835489

[Term]
id: MONDO:0007885
name: Legg-Calve-Perthes disease
def: "Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children." [Orphanet:2380]
subset: gard_rare {source="GARD:0006874"}
subset: ordo_disease {source="Orphanet:2380"}
synonym: "aseptic necrosis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "Calve - Perthes' disease" EXACT [DOID:14415]
synonym: "coxa plana" EXACT [DOID:14415]
synonym: "juvenile osteochond-hip/pelvis" EXACT [DOID:14415]
synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [DOID:14415]
synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT [DOID:14415]
synonym: "Lcp" RELATED [OMIM:150600]
synonym: "LCPD" RELATED [MONDO:Lexical, OMIM:150600]
synonym: "Legg-Calve-Perthes disease" EXACT [MONDO:Lexical, OMIM:150600]
synonym: "Legg-CALVE-Perthes disease; LCPD" RELATED [OMIM:150600]
synonym: "Legg-Calve-Perthes symptom" RELATED [DOID:14415]
synonym: "Legg-Calve-Perthes syndrome" RELATED [GARD:0006874]
synonym: "Legg-Calvé-Perthes disease" RELATED [Orphanet:2380]
synonym: "Legg-Perthes disease" RELATED [OMIM:150600]
synonym: "osteochondritis deformans" RELATED [GARD:0006874]
synonym: "osteochondritis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [DOID:14415, MTHICD9_2006:732.1]
synonym: "Osteochondrosis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "Perthe's disease" EXACT [DOID:14415, SCTID:270545000]
synonym: "Perthes disease" EXACT [DOID:14415, NCIT:C34766, OMIM:150600, Orphanet:2380]
synonym: "Pseudocoxalgia" EXACT [DOID:14415]
synonym: "pseudocoxalgia" EXACT [CSP2005:2715-2772, DOID:14415]
xref: DOID:14415 {source="MONDO:equivalentTo", source="EFO:0007341"}
xref: EFO:0007341 {source="MONDO:equivalentTo"}
xref: GARD:0006874 {source="MONDO:equivalentTo"}
xref: ICD10:M91.1 {source="ORDO:2380/specific", source="Orphanet:2380", source="ORDO:2380/e"}
xref: ICD10:M91.2 {source="DOID:14415"}
xref: ICD10:M91.3 {source="DOID:14415"}
xref: MedDRA:10034735 {source="Orphanet:2380", source="ORDO:2380/e"}
xref: MESH:D007873 {source="DOID:14415", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007341"}
xref: NCIT:C34766 {source="DOID:14415", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:150600 {source="DOID:14415", source="MONDO:equivalentTo", source="Orphanet:2380", source="ORDO:2380/e"}
xref: Orphanet:2380 {source="OMIM:150600", source="MONDO:equivalentTo"}
xref: SCTID:15739006 {source="DOID:14415", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.10"}
xref: UMLS:C0023234 {source="OMIM:150600", source="DOID:14415", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2380", source="ORDO:2380/e", source="NCIT:C34766"}
is_a: MONDO:0018381 {source="DOID:14415", source="MONDO:Redundant", source="Orphanet:2380", source="linkedlifedata"} ! osteochondrosis
is_a: MONDO:0019686 {source="Orphanet:2380"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: closeMatch http://identifiers.org/snomedct/111255008
property_value: closeMatch http://identifiers.org/snomedct/156817009
property_value: closeMatch http://identifiers.org/snomedct/203365001
property_value: closeMatch http://identifiers.org/snomedct/203367009
property_value: closeMatch http://identifiers.org/snomedct/203371007
property_value: closeMatch http://identifiers.org/snomedct/203372000
property_value: closeMatch http://identifiers.org/snomedct/240169001
property_value: closeMatch http://identifiers.org/snomedct/240241003
property_value: closeMatch http://identifiers.org/snomedct/270545000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022441
property_value: exactMatch DOID:14415
property_value: exactMatch http://identifiers.org/meddra/10034735
property_value: exactMatch http://identifiers.org/mesh/D007873
property_value: exactMatch http://identifiers.org/omim/150600
property_value: exactMatch http://identifiers.org/snomedct/15739006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023234
property_value: exactMatch NCIT:C34766
property_value: exactMatch Orphanet:2380
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease xsd:anyURI {source="GARD:0006874"}

[Term]
id: MONDO:0007886
name: uterine corpus leiomyoma
def: "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3434]
synonym: "body of uterus fibroid" EXACT [NCIT:C3434]
synonym: "body of uterus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3434]
synonym: "corpus uteri fibroid" EXACT [NCIT:C3434]
synonym: "corpus uteri leiomyoma" EXACT [NCIT:C3434]
synonym: "fibroid of body of uterus" EXACT [NCIT:C3434]
synonym: "fibroid of corpus uteri" EXACT [NCIT:C3434]
synonym: "fibroid of the body of uterus" EXACT [NCIT:C3434]
synonym: "fibroid of the corpus uteri" EXACT [NCIT:C3434]
synonym: "fibroid of the uterine body" EXACT [NCIT:C3434]
synonym: "fibroid of the uterine corpus" EXACT [NCIT:C3434]
synonym: "fibroid of uterine body" EXACT [NCIT:C3434]
synonym: "fibroid of uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma of body of uterus" EXACT [NCIT:C3434]
synonym: "leiomyoma of corpus uteri" EXACT [DOID:13223, NCIT:C3434]
synonym: "leiomyoma of the body of uterus" EXACT [NCIT:C3434]
synonym: "leiomyoma of the corpus uteri" EXACT [NCIT:C3434]
synonym: "leiomyoma of the uterine body" EXACT [NCIT:C3434]
synonym: "leiomyoma of the uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma of uterine body" EXACT [NCIT:C3434]
synonym: "leiomyoma of uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma, uterine" RELATED [MONDO:Lexical, OMIM:150699]
synonym: "leiomyoma, uterine; UL" RELATED [OMIM:150699]
synonym: "plexiform leiomyoma" EXACT [DOID:13223]
synonym: "UL" RELATED [MONDO:Lexical, OMIM:150699]
synonym: "uterine body fibroid" EXACT [NCIT:C3434]
synonym: "uterine body leiomyoma" EXACT [NCIT:C3434]
synonym: "uterine corpus fibroid" EXACT [NCIT:C3434]
synonym: "uterine corpus leiomyoma" EXACT [NCIT:C3434]
synonym: "uterine corpus leiomyomata" EXACT [NCIT:C3434]
synonym: "uterine fibroid" EXACT [NCIT:C3434]
synonym: "uterine leiomyoma" RELATED [DOID:13223, ICD9CM_2006:218]
synonym: "uterus fibroma" RELATED [DOID:13223, MTH:769]
xref: COHD:197236 {source="MONDO:equivalentTo"}
xref: DOID:13223 {source="MONDO:equivalentTo", source="EFO:0000731"}
xref: EFO:0000731 {source="MONDO:equivalentTo", source="DOID:13223"}
xref: HP:0000131 {source="MONDO:otherHierarchy", source="DOID:13223"}
xref: ICD10:D25 {source="DOID:13223"}
xref: ICD10:D25.9 {source="DOID:13223"}
xref: ICD9:218 {source="EFO:0000731", source="DOID:13223"}
xref: ICD9:218.9 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000731", source="DOID:13223"}
xref: NCIT:C3434 {source="DesignPattern", source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"}
xref: OMIM:150699 {source="MONDO:equivalentTo", source="DOID:13223"}
xref: ONCOTREE:ULM {source="MONDO:equivalentTo"}
xref: SCTID:95315005 {source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0042133 {source="OMIM:150699", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3434", source="DOID:13223"}
xref: UMLS:C2242776 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3434", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0005167 {source="DOID:13223"} ! fibroma
is_a: MONDO:0017127 ! inherited soft tissue tumor
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C3434"} ! benign neoplasm of corpus uteri
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/128917003
property_value: closeMatch http://identifiers.org/snomedct/154616000
property_value: closeMatch http://identifiers.org/snomedct/189106003
property_value: closeMatch http://identifiers.org/snomedct/44598004
property_value: closeMatch http://identifiers.org/snomedct/702978006
property_value: exactMatch DOID:13223
property_value: exactMatch http://identifiers.org/omim/150699
property_value: exactMatch http://identifiers.org/snomedct/95315005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242776
property_value: exactMatch NCIT:C3434

[Term]
id: MONDO:0007887
name: leiomyoma of vulva and esophagus
subset: gard_rare {source="GARD:0010097"}
synonym: "esophagogastric and vulvar leiomyomatosis" RELATED [GARD:0010097]
synonym: "leiomyoma of vulva and esophagus" EXACT [OMIM:150700]
synonym: "leiomyomatosis, esophagogastric and vulvar" RELATED [OMIM:150700]
xref: GARD:0010097 {source="MONDO:equivalentTo"}
xref: MESH:C537006 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150700 {source="MONDO:equivalentTo"}
xref: UMLS:C1835488 {source="OMIM:150700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010641 {source="ORDO:1018/btnt"} ! X-linked diffuse leiomyomatosis-Alport syndrome
property_value: exactMatch http://identifiers.org/mesh/C537006
property_value: exactMatch http://identifiers.org/omim/150700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835488
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus xsd:anyURI {source="GARD:0010097"}

[Term]
id: MONDO:0007888
name: hereditary leiomyomatosis and renal cell cancer
def: "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." [Orphanet:523]
subset: ordo_disease {source="Orphanet:523"}
synonym: "familial leiomyomatosis and renal cell cancer" EXACT [Orphanet:523]
synonym: "familial leiomyomatosis cutis et uteri" EXACT [Orphanet:523]
synonym: "familial leiomyomatosis with renal carcinoma" EXACT [Orphanet:523]
synonym: "familial multiple cutaneous leiomyomas" EXACT [Orphanet:523]
synonym: "hereditary leiomyomatosis" EXACT [Orphanet:523]
synonym: "hereditary leiomyomatosis and renal cell cancer" EXACT [MONDO:Lexical, OMIM:150800]
synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [NCIT:C51302]
synonym: "hereditary leiomyomatosis and renal cell cancer; HLRCC" RELATED [OMIM:150800]
synonym: "hereditary leiomyomatosis and renal cell carcinoma" EXACT [NCIT:C51302]
synonym: "hereditary leiomyomatosis with renal carcinoma" EXACT [Orphanet:523]
synonym: "hereditary multiple cutaneous leiomyomas" EXACT [Orphanet:523]
synonym: "HLRCC" EXACT [MONDO:Lexical, OMIM:150800, Orphanet:523]
synonym: "leiomyoma, multiple cutaneous" RELATED [OMIM:150800]
synonym: "leiomyomatosis and renal cell cancer, hereditary" RELATED [OMIM:150800]
synonym: "LRCC" RELATED [GARD:0010096]
synonym: "MCUL" EXACT [Orphanet:523]
synonym: "multiple cutaneous and uterine leiomyomas" EXACT [Orphanet:523]
synonym: "multiple cutaneous and uterine leiomyomata" RELATED [GARD:0010096]
synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" RELATED [OMIM:150800]
synonym: "multiple cutaneous leiomyomata" RELATED [GARD:0010096]
synonym: "Reed syndrome" EXACT [Orphanet:523]
synonym: "Reed's syndrome" RELATED [GARD:0010096]
xref: GARD:0010096 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C64 {source="Orphanet:523", source="ORDO:523/attributed", source="ORDO:523/ntbt"}
xref: MESH:C535516 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C51302 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="ORDO:523/e"}
xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"}
xref: UMLS:C1708350 {source="OMIM:150800", source="Orphanet:523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="NCIT:C51302"}
xref: UMLS:CN239164 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015950 {source="Orphanet:523", source="indirect"} ! inherited skin tumor
is_a: MONDO:0017891 {source="Orphanet:523"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0021163 ! kidney neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:523"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/mesh/C535516
property_value: exactMatch http://identifiers.org/omim/150800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239164
property_value: exactMatch NCIT:C51302
property_value: exactMatch Orphanet:523

[Term]
id: MONDO:0007889
name: lentigines
def: "Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome)." [MESH:D007911]
synonym: "lentigines" EXACT [OMIM:150900]
xref: MESH:D007911 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:150900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023321
property_value: exactMatch http://identifiers.org/mesh/D007911
property_value: exactMatch http://identifiers.org/omim/150900

[Term]
id: MONDO:0007890
name: lentiginosis, centrofacial neurodysraphic
synonym: "lentiginosis, centrofacial neurodysraphic" EXACT [OMIM:151000]
synonym: "lentiginosis, Touraine type" RELATED [OMIM:151000]
xref: MESH:C563630 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835484 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563630
property_value: exactMatch http://identifiers.org/omim/151000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835484

[Term]
id: MONDO:0007891
name: familial generalized lentiginosis
def: "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." [Orphanet:231040]
subset: ordo_disease {source="Orphanet:231040"}
synonym: "familial lentigines profusa" EXACT [Orphanet:231040]
synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040]
synonym: "lentiginosis profusa" RELATED [OMIM:151001]
synonym: "lentiginosis, diffuse" RELATED [OMIM:151001]
synonym: "lentiginosis, generalized" RELATED [OMIM:151001]
synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001]
xref: ICD10:L81.4 {source="ORDO:231040/attributed", source="ORDO:231040/ntbt", source="Orphanet:231040"}
xref: MESH:C573023 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151001 {source="MONDO:equivalentTo", source="ORDO:231040/e", source="Orphanet:231040"}
xref: Orphanet:231040 {source="MONDO:equivalentTo", source="OMIM:151001"}
xref: SCTID:765195000 {source="MONDO:equivalentTo"}
xref: UMLS:C3492944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151001"}
xref: UMLS:CN201466 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019289 {source="Orphanet:231040"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C573023
property_value: exactMatch http://identifiers.org/omim/151001
property_value: exactMatch http://identifiers.org/snomedct/765195000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3492944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201466
property_value: exactMatch Orphanet:231040

[Term]
id: MONDO:0007892
name: Lenz-Majewski hyperostotic dwarfism
def: "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." [Orphanet:2658]
subset: gard_rare {source="GARD:0003223"}
subset: ordo_malformation_syndrome {source="Orphanet:2658"}
synonym: "hyperostotic dwarfism Lenz-Majewski type" RELATED [GARD:0003223]
synonym: "Lenz Majewski hyperostotic dwarfism" RELATED [GARD:0003223]
synonym: "Lenz-Majewski hyperostotic dwarfism" EXACT [MONDO:Lexical, OMIM:151050]
synonym: "Lenz-Majewski hyperostotic dwarfism; LMHD" RELATED [OMIM:151050]
synonym: "Lenz-Majewski hyperostotic dysplasia" RELATED [GARD:0003223]
synonym: "Lenz-Majewski syndrome" RELATED [OMIM:151050]
synonym: "LMHD" RELATED [MONDO:Lexical, OMIM:151050]
synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED [GARD:0003223]
xref: GARD:0003223 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:2658/attributed", source="ORDO:2658/ntbt", source="Orphanet:2658"}
xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="ORDO:2658/e", source="MONDO:ontobio"}
xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="ORDO:2658/e"}
xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2658", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019703 {source="Orphanet:2658"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C537115
property_value: exactMatch http://identifiers.org/omim/151050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432269
property_value: exactMatch Orphanet:2658
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism xsd:anyURI {source="GARD:0003223"}

[Term]
id: MONDO:0007893
name: Noonan syndrome with multiple lentigines
def: "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." [Orphanet:500]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:500"}
synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:14291]
synonym: "cardiocutaneous syndrome" EXACT EXCLUDE [DOID:14291]
synonym: "Cardiomyopathic lentiginosis" EXACT [Orphanet:500]
synonym: "familial multiple lentigines syndrome" EXACT [Orphanet:500]
synonym: "generalized lentiginosis" EXACT [DOID:14291]
synonym: "Gorlin syndrome II" EXACT [DOID:14291]
synonym: "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" RELATED [GARD:0001100]
synonym: "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" EXACT [NCIT:C84820]
synonym: "lentiginosis profusa syndrome" EXACT [DOID:14291]
synonym: "LEOPARD syndrome" EXACT [CSP2005:0723-1051, DOID:14291, MONDO:0001937, Orphanet:500]
synonym: "Moynahan syndrome" EXACT [DOID:14291]
synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291]
xref: DOID:14291 {source="MONDO:equivalentTo"}
xref: GARD:0001100 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:500", source="ORDO:500/attributed", source="ORDO:500/ntbt"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062901 {source="Orphanet:500", source="ORDO:500/e"}
xref: MESH:D044542 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="ORDO:500/e"}
xref: NCIT:C84820 {source="MONDO:kboom-pr-0.91/0.71/1.28", source="DOID:14291", source="MONDO:equivalentTo"}
xref: OMIMPS:151100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:500 {source="MONDO:equivalentTo", source="OMIM:151100"}
xref: SCTID:111306001 {source="DOID:14291", source="MONDO:equivalentTo"}
xref: UMLS:C0175704 {source="Orphanet:500", source="NCIT:C84820", source="DOID:14291", source="MONDO:equivalentTo", source="OMIM:151100", source="ORDO:500/e"}
xref: UMLS:CN074218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:14291", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015331 {source="Orphanet:500"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015945 {source="Orphanet:500"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019589 {source="Orphanet:500"} ! syndromic genetic deafness
is_a: MONDO:0020063 {source="Orphanet:500"} ! malformation syndrome with hamartosis
is_a: MONDO:0020297 {source="Orphanet:500"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:500"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:500"} ! hyperpigmentation of the skin
relationship: disease_has_feature MONDO:0020178 {source="Orphanet:500"} ! palpebral lentiginosis
property_value: exactMatch DOID:14291
property_value: exactMatch http://identifiers.org/meddra/10062901
property_value: exactMatch http://identifiers.org/mesh/C537116
property_value: exactMatch http://identifiers.org/mesh/D044542
property_value: exactMatch http://identifiers.org/snomedct/111306001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074218
property_value: exactMatch NCIT:C84820
property_value: exactMatch Orphanet:500

[Term]
id: MONDO:0007894
name: Leri pleonosteosis
def: "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." [Orphanet:2900]
subset: gard_rare {source="GARD:0000088"}
subset: ordo_malformation_syndrome {source="Orphanet:2900"}
synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [OMIM:151200]
synonym: "Leri pleonosteosis" EXACT [OMIM:151200]
synonym: "Leri type pleonosteosis" RELATED [GARD:0000088]
synonym: "Leri's pleonosteosis" RELATED [GARD:0000088]
synonym: "pleonosteosis Leri type" RELATED [GARD:0000088]
xref: GARD:0000088 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="ORDO:2900/attributed", source="ORDO:2900/ntbt", source="Orphanet:2900"}
xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e", source="MONDO:ontobio"}
xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e"}
xref: Orphanet:2900 {source="MONDO:equivalentTo", source="OMIM:151200"}
xref: UMLS:C1835450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e", source="OMIM:151200"}
is_a: MONDO:0019715 {source="Orphanet:2900"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/mesh/C537118
property_value: exactMatch http://identifiers.org/omim/151200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265311
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835450
property_value: exactMatch Orphanet:2900
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis xsd:anyURI {source="GARD:0000088"}

[Term]
id: MONDO:0007895
name: platyspondylic dysplasia, Torrance type
subset: ordo_malformation_syndrome {source="Orphanet:85166"}
synonym: "lethal short-limbed Platyspondylic dwarfism Torrance type" RELATED [GARD:0004382]
synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [OMIM:151210]
synonym: "Platyspondylic dysplasia, Torrance-Luton type" EXACT [Orphanet:85166]
synonym: "Platyspondylic lethal skeletal dysplasia Torrance type" RELATED [GARD:0004382]
synonym: "Platyspondylic lethal skeletal dysplasia, Luton type" RELATED [OMIM:151210]
synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [MONDO:Lexical, OMIM:151210, Orphanet:85166]
synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type; PLSDT" RELATED [OMIM:151210]
synonym: "PLSD-T" EXACT [Orphanet:85166]
synonym: "PLSDT" RELATED [MONDO:Lexical, OMIM:151210]
synonym: "thanatophoric dysplasia Torrance variant" RELATED [GARD:0004382]
synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210]
synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210]
xref: GARD:0004382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:85166", source="ORDO:85166/attributed", source="ORDO:85166/ntbt"}
xref: MESH:C563627 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="ORDO:85166/e"}
xref: Orphanet:85166 {source="MONDO:equivalentTo", source="OMIM:151210"}
xref: UMLS:C1835437 {source="Orphanet:85166", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151210", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019686 {source="Orphanet:85166"} ! type 2 collagen-related bone disorder
is_a: MONDO:0019694 {source="Orphanet:85166"} ! spondylodysplastic dysplasia
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch http://identifiers.org/mesh/C563627
property_value: exactMatch http://identifiers.org/omim/151210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835437
property_value: exactMatch Orphanet:85166

[Term]
id: MONDO:0007896
name: acute monocytic leukemia
def: "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." [Orphanet:514]
subset: gard_rare
subset: ordo_disease {source="Orphanet:514"}
synonym: "acute monoblastic leukemia" RELATED [GARD:0000525]
synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864, NCIT:C7318]
synonym: "acute monoblastic/monocytic leukemia" RELATED [ONCOTREE:AMOL]
synonym: "acute monocytic leukemia" EXACT [GARD:0000525, NCIT:C4861, Orphanet:514]
synonym: "acute monocytic leukemia (FAB M5B)" EXACT [NCIT:C4861]
synonym: "acute monocytic leukemia (FAB M5b)" EXACT [NCIT:C4861]
synonym: "acute monocytic leukemia without mention of remission" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, FAB M5" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, morphology" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [DOID:8864]
synonym: "acute myeloblastic leukemia type 5" RELATED [GARD:0000525]
synonym: "AML M5" EXACT [GARD:0000525, Orphanet:514]
synonym: "AML-M5" RELATED [GARD:0000525]
synonym: "leukemia, acute monocytic" RELATED [OMIM:151380]
synonym: "leukemia, monocytic, malignant" EXACT [NCIT:C4861]
synonym: "monocytic leukemia" EXACT [NCIT:C4861]
synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute]
xref: COHD:135768 {source="MONDO:equivalentTo"}
xref: CSP:2004-2820 {source="DOID:8864"}
xref: DOID:8864 {source="EFO:0000221", source="MONDO:equivalentTo"}
xref: EFO:0000221 {source="MONDO:equivalentTo"}
xref: GARD:0000525 {source="MONDO:equivalentTo"}
xref: ICD10:C92.7 {source="Orphanet:514", source="ORDO:514/ntbt"}
xref: ICD9:206.0 {source="DOID:8864", source="EFO:0000221"}
xref: ICDO:9891/3 {source="NCIT:C4861"}
xref: MedDRA:10000871 {source="ORDO:514/e", source="Orphanet:514"}
xref: MedDRA:10059439 {source="ORDO:514/e", source="Orphanet:514"}
xref: MESH:D007948 {source="DOID:8864", source="ORDO:514/e", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4861 {source="EFO:0000221", source="MONDO:equivalentTo"}
xref: OMIM:151380 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"}
xref: ONCOTREE:AMOL {source="MONDO:equivalentTo"}
xref: Orphanet:514 {source="MONDO:equivalentTo", source="GARD:0000525"}
xref: SCTID:413441006 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023465 {source="DOID:8864", source="OMIM:151380", source="Orphanet:514", source="MONDO:equivalentTo", source="NCIT:C4861"}
xref: UMLS:C1318544 {source="ORDO:514/e", source="Orphanet:514", source="MONDO:equivalentTo"}
is_a: MONDO:0004600 {source="DOID:8864", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! monocytic leukemia
is_a: MONDO:0011118 {source="EFO:0000221"} ! bilineal acute myeloid leukemia
property_value: closeMatch http://identifiers.org/snomedct/154594005
property_value: closeMatch http://identifiers.org/snomedct/22331004
property_value: closeMatch http://identifiers.org/snomedct/91859000
property_value: exactMatch DOID:8864
property_value: exactMatch http://identifiers.org/meddra/10000871
property_value: exactMatch http://identifiers.org/meddra/10059439
property_value: exactMatch http://identifiers.org/mesh/D007948
property_value: exactMatch http://identifiers.org/omim/151380
property_value: exactMatch http://identifiers.org/snomedct/413441006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318544
property_value: exactMatch NCIT:C4861
property_value: exactMatch Orphanet:514
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia xsd:anyURI {source="GARD:0000525"}

[Term]
id: MONDO:0007897
name: obsolete leukemia, chronic lymphocytic
is_obsolete: true
replaced_by: MONDO:0004948

[Term]
id: MONDO:0007898
name: leukocyte nuclear appendages, hereditary prevalence of
synonym: "leukocyte nuclear appendages, hereditary prevalence of" EXACT [OMIM:151500]
xref: MESH:C563626 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151500 {source="MONDO:equivalentTo"}
xref: UMLS:C1835405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563626
property_value: exactMatch http://identifiers.org/omim/151500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835405

[Term]
id: MONDO:0007899
name: lichen sclerosus et atrophicus
def: "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." [NCIT:C26817]
synonym: "lichen sclerosis" RELATED [GARD:0006905]
synonym: "lichen sclerosis et atrophicus" RELATED [GARD:0006905]
synonym: "lichen sclerosus" RELATED [GARD:0006905]
synonym: "lichen sclerosus et atrophicus" EXACT [MONDO:Lexical, OMIM:151590]
synonym: "lichen SCLEROSUS ET ATROPHICUS; LSA" RELATED [OMIM:151590]
synonym: "LSA" RELATED [MONDO:Lexical, OMIM:151590]
xref: COHD:4119189 {source="MONDO:equivalentTo"}
xref: GARD:0006905 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:L90.0 {source="MONDO:equivalentTo"}
xref: MESH:D018459 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26817 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:151590 {source="MONDO:equivalentTo"}
xref: SCTID:25674000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0023652 {source="NCIT:C26817", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151590"}
is_a: MONDO:0002406 {source="NCIT:C26817"} ! dermatitis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch Orphanet:33409
property_value: exactMatch http://identifiers.org/mesh/D018459
property_value: exactMatch http://identifiers.org/omim/151590
property_value: exactMatch http://identifiers.org/snomedct/25674000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023652
property_value: exactMatch NCIT:C26817

[Term]
id: MONDO:0007900
name: nonsyndromic congenital nail disorder 3
def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "Gorlin Bushkell Jensen syndrome" RELATED [GARD:0002555]
synonym: "inherited isolated nail anomaly caused by mutation in PLCD1" EXACT [MONDO:design_pattern]
synonym: "leukonychia punctata" RELATED [OMIM:151600]
synonym: "leukonychia Striatus" RELATED [OMIM:151600]
synonym: "leukonychia totalis and/or partialis" RELATED [OMIM:151600]
synonym: "leukonychia totalis multiple sebaceous cysts renal calculi" RELATED [GARD:0002555]
synonym: "nail disorder, nonsyndromic congenital, 3" RELATED [MONDO:Lexical, OMIM:151600]
synonym: "nail disorder, nonsyndromic congenital, 3; NDNC3" RELATED [OMIM:151600]
synonym: "nail disorder, nonsyndromic congenital, type 3" EXACT [MONDORULE:1, OMIM:151600]
synonym: "NDNC3" RELATED [MONDO:Lexical, OMIM:151600]
synonym: "nonsyndromic congenital nail disorder type 3" EXACT [DOID:0080081, MONDORULE:1]
synonym: "PLCD1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "porcelain nails" RELATED [OMIM:151600]
xref: DOID:0080081 {source="MONDO:equivalentTo"}
xref: GARD:0002555 {source="MONDO:equivalentTo"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537289 {source="MONDO:equivalentTo"}
xref: OMIM:151600 {source="GARD:0002555", source="MONDO:equivalentTo", source="DOID:0080081"}
xref: SCTID:74102009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
is_a: MONDO:0019284 {source="DC-OMIM:151600", source="MONDO:Redundant", source="OMIM:151600"} ! inherited isolated nail anomaly
relationship: excluded_subClassOf MONDO:0016471 {source="MESH:C537289"} ! pachyonychia congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263532
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931467
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276977
property_value: exactMatch DOID:0080081
property_value: exactMatch http://identifiers.org/mesh/C537289
property_value: exactMatch http://identifiers.org/omim/151600
property_value: exactMatch http://identifiers.org/snomedct/74102009
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome xsd:anyURI {source="GARD:0002555"}

[Term]
id: MONDO:0007901
name: levator-medial rectus synkinesis
synonym: "levator-medial rectus synkinesis" EXACT [OMIM:151610]
synonym: "oculomotor-levator synkinesis" RELATED [OMIM:151610]
xref: MESH:C563625 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151610 {source="MONDO:equivalentTo"}
xref: UMLS:C1835403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151610"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563625
property_value: exactMatch http://identifiers.org/omim/151610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835403

[Term]
id: MONDO:0007902
name: lichen planus, familial
def: "An instance of lichen planus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary lichen planus" EXACT [MONDO:patterns/hereditary]
synonym: "lichen planus, familial" EXACT [OMIM:151620]
xref: MESH:C563624 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151620 {source="MONDO:equivalentTo"}
xref: UMLS:C1835402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151620"}
is_a: MONDO:0006572 {source="MESH:C563624", source="MONDO:Redundant", source="MONDOLEX:0007902", source="OWLReasoner:2017"} ! lichen planus
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0006572 ! lichen planus
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C563624
property_value: exactMatch http://identifiers.org/omim/151620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835402

[Term]
id: MONDO:0007903
name: Li-Fraumeni syndrome 1
def: "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "LFS" RELATED [OMIM:151623]
synonym: "LFS1" RELATED [MONDO:Lexical, OMIM:151623]
synonym: "LFS3" EXACT [MONDO:0012234, MONDO:Lexical, OMIM:609266]
synonym: "Li-Fraumeni syndrome 1" EXACT [MONDO:Lexical, OMIM:151623]
synonym: "Li-Fraumeni syndrome 1; LFS1" RELATED [OMIM:151623]
synonym: "Li-Fraumeni syndrome 3" RELATED [MONDO:Lexical, OMIM:609266]
synonym: "Li-Fraumeni syndrome 3; LFS3" RELATED [OMIM:609266]
synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "Li-Fraumeni syndrome type 1" EXACT [MONDORULE:1, OMIM:151623]
synonym: "Li-Fraumeni syndrome; LFS" RELATED [OMIM:151623]
synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623]
synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623]
synonym: "Sbla syndrome" RELATED [OMIM:151623]
synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563754 {source="MONDO:equivalentTo"}
xref: OMIM:151623 {source="MONDO:equivalentTo"}
xref: OMIM:609266 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1835398 {source="OMIM:151623", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C1836481 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609266"}
is_a: MONDO:0018875 {source="DC-OMIM:151623", source="DC-OMIM:609266", source="MESH:C563754", source="MONDO:Redundant", source="OMIM:151623", source="OMIM:609266"} ! Li-Fraumeni syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675080
property_value: exactMatch http://identifiers.org/mesh/C563754
property_value: exactMatch http://identifiers.org/omim/151623
property_value: exactMatch http://identifiers.org/omim/609266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836481

[Term]
id: MONDO:0007904
name: median nodule of the upper lip
def: "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." [Orphanet:2699]
subset: gard_rare {source="GARD:0003440"}
subset: ordo_malformation_syndrome {source="Orphanet:2699"}
synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630]
xref: GARD:0003440 {source="MONDO:equivalentTo"}
xref: ICD10:Q18.8 {source="ORDO:2699/attributed", source="ORDO:2699/ntbt", source="Orphanet:2699"}
xref: OMIM:151630 {source="ORDO:2699/e", source="MONDO:equivalentTo", source="Orphanet:2699"}
xref: Orphanet:2699 {source="MONDO:equivalentTo", source="OMIM:151630"}
xref: SCTID:722034006 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C1835396 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151630"}
is_a: MONDO:0043008 {source="Orphanet:2699"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/omim/151630
property_value: exactMatch http://identifiers.org/snomedct/722034006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835396
property_value: exactMatch Orphanet:2699
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip xsd:anyURI {source="GARD:0003440"}

[Term]
id: MONDO:0007905
name: lip, hamartomatous
synonym: "enlargement of Lower lip" RELATED [OMIM:151640]
synonym: "lip, hamartomatous" EXACT [OMIM:151640]
xref: MESH:C563621 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151640 {source="MONDO:equivalentTo"}
xref: UMLS:C1835395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151640"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563621
property_value: exactMatch http://identifiers.org/omim/151640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835395

[Term]
id: MONDO:0007906
name: familial partial lipodystrophy, Dunnigan type
def: "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." [Orphanet:2348]
subset: ordo_disease {source="Orphanet:2348"}
synonym: "Dunnigan syndrome" EXACT [Orphanet:2348]
synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [DOID:0070202]
synonym: "familial partial lipodystrophy Dunnigan type" EXACT [DOID:0070202]
synonym: "familial partial lipodystrophy type 2" EXACT [Orphanet:2348]
synonym: "FPL2" RELATED [OMIM:151660]
synonym: "FPLD2" EXACT [DOID:0070202, MONDO:Lexical, OMIM:151660, Orphanet:2348]
synonym: "lipoatrophic diabetes" EXACT EXCLUDE [DOID:0070202]
synonym: "lipodystrophy, familial partial, Dunnigan type" RELATED [OMIM:151660]
synonym: "lipodystrophy, familial partial, type 2" RELATED [MONDO:Lexical, OMIM:151660]
synonym: "lipodystrophy, familial partial, type 2; FPLD2" RELATED [OMIM:151660]
synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [OMIM:151660]
synonym: "lipodystrophy, reverse partial" RELATED [OMIM:151660]
synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202]
xref: DOID:0070202 {source="MONDO:equivalentTo"}
xref: GARD:0003126 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:3126 {source="DOID:0070202"}
xref: ICD10:E88.1 {source="ORDO:2348/attributed", source="ORDO:2348/ntbt", source="Orphanet:2348"}
xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="ORDO:2348/e"}
xref: ORDO:2348 {source="DOID:0070202"}
xref: Orphanet:2348 {source="MONDO:equivalentTo", source="OMIM:151660"}
xref: SCTID:715439000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.34/0.09"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:2348"} ! progeroid syndrome
is_a: MONDO:0020088 {source="DC-OMIM:151660", source="DOID:0070202", source="MONDOLEX:0007906", source="OMIM:151660", source="Orphanet:2348", source="linkedlifedata"} ! familial partial lipodystrophy
property_value: exactMatch DOID:0070202
property_value: exactMatch http://identifiers.org/omim/151660
property_value: exactMatch http://identifiers.org/snomedct/715439000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720860
property_value: exactMatch Orphanet:2348

[Term]
id: MONDO:0007907
name: lipoma of the conjunctiva
synonym: "lipoma of the conjunctiva" EXACT [OMIM:151700]
xref: MESH:C563620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:151700 {source="MONDO:equivalentTo"}
xref: UMLS:C1835373 {source="OMIM:151700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006105 ! benign conjunctival neoplasm
is_a: MONDO:0021630 ! lipoma of face
property_value: exactMatch http://identifiers.org/mesh/C563620
property_value: exactMatch http://identifiers.org/omim/151700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835373

[Term]
id: MONDO:0007908
name: multiple symmetric lipomatosis
def: "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." [Orphanet:2398]
subset: gard_rare {source="GARD:0006957"}
subset: ordo_disease {source="Orphanet:2398"}
synonym: "benign symmetrical lipomatosis" RELATED [GARD:0006957]
synonym: "cephalothoracic lipodystrophy" EXACT [Orphanet:2398]
synonym: "cervical symmetrical lipomatosis" EXACT [DOID:14116, NCIT:C4392]
synonym: "familial benign cervical lipomatosis" EXACT [Orphanet:2398]
synonym: "familial symmetric lipomatosis" RELATED [GARD:0006957]
synonym: "Launois-Bensaude lipomatosis" EXACT [Orphanet:2398]
synonym: "Launois-Bensaude syndrome" RELATED [GARD:0006957]
synonym: "Launois-Bensaude's lipomatosis" EXACT [DOID:14116, MTHICD9_2006:272.8]
synonym: "lipodystrophy, cephalothoracic" EXACT [DOID:14116, OMIM:151800]
synonym: "lipomatosis, familial benign cervical" EXACT [DOID:14116, OMIM:151800]
synonym: "lipomatosis, multiple symmetric" RELATED [MONDO:Lexical, OMIM:151800]
synonym: "lipomatosis, multiple symmetric; MSL" RELATED [OMIM:151800]
synonym: "Madelung disease" EXACT [Orphanet:2398]
synonym: "Madelung's disease" RELATED [GARD:0006957]
synonym: "Madelung's neck" EXACT [DOID:14116]
synonym: "MSL" RELATED [MONDO:Lexical, OMIM:151800]
synonym: "multiple symmetric lipomatosis" EXACT [DOID:14116]
synonym: "multiple symmetrical lipomatosis" EXACT [MONDO:0002521, NCIT:C4392]
xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"}
xref: EFO:1000737 {source="MONDO:equivalentTo"}
xref: GARD:0006957 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="Orphanet:2398", source="ORDO:2398/inclusion", source="ORDO:2398/ntbt"}
xref: NCIT:C4392 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.21", source="DOID:14116"}
xref: OMIM:151800 {source="ORDO:2398/e", source="Orphanet:2398", source="MONDO:equivalentTo", source="DOID:14116"}
xref: Orphanet:2398 {source="OMIM:151800", source="MONDO:equivalentTo"}
xref: SCTID:238902007 {source="DOID:3137", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023804 {source="OMIM:151800", source="Orphanet:2398", source="DOID:3137", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:C0024445 {source="NCIT:C4392", source="Orphanet:2398", source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo", source="DOID:14116"}
xref: UMLS:CN201658 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0006574 {source="DOID:14116", source="EFO:1000737", source="MONDO:Redundant", source="NCIT:C4392", source="linkedlifedata"} ! lipomatosis
is_a: MONDO:0019296 {source="Orphanet:2398"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: closeMatch DOID:3137
property_value: closeMatch http://identifiers.org/mesh/D008069
property_value: closeMatch http://identifiers.org/snomedct/254832003
property_value: closeMatch http://identifiers.org/snomedct/63365006
property_value: exactMatch DOID:14116
property_value: exactMatch http://identifiers.org/omim/151800
property_value: exactMatch http://identifiers.org/snomedct/238902007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201658
property_value: exactMatch NCIT:C4392
property_value: exactMatch Orphanet:2398
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis xsd:anyURI {source="GARD:0006957"}

[Term]
id: MONDO:0007909
name: familial multiple lipomatosis
def: "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." [Orphanet:199276]
subset: ordo_disease {source="Orphanet:199276"}
synonym: "lipoma" RELATED [OMIM:151900]
synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900]
synonym: "lipomatosis, multiple" RELATED [OMIM:151900]
xref: GARD:0012925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.2 {source="Orphanet:199276", source="ORDO:199276/attributed", source="ORDO:199276/ntbt"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:214.9 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:151900 {source="ORDO:199276/e", source="Orphanet:199276", source="MONDO:equivalentTo"}
xref: Orphanet:199276 {source="OMIM:151900", source="MONDO:equivalentTo"}
xref: SCTID:766888002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000652 {source="MONDO:Redundant", source="indirect"} ! integumentary system benign neoplasm
is_a: MONDO:0005106 {source="MONDO:Redundant", source="OMIM:151900"} ! lipoma
is_a: MONDO:0019296 {source="Orphanet:199276"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949", source="MONDO:0020031"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489413
property_value: exactMatch http://identifiers.org/omim/151900
property_value: exactMatch http://identifiers.org/snomedct/766888002
property_value: exactMatch Orphanet:199276

[Term]
id: MONDO:0007910
name: lipoprotein types--Lt system
synonym: "lipoprotein types--Lt system" EXACT [OMIM:152300]
xref: OMIM:152300 {source="MONDO:equivalentTo"}
xref: UMLS:C1835359 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:152300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/152300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835359

[Term]
id: MONDO:0007911
name: lipoprotein, variant of beta
synonym: "Beta-lipoprotein, Double" RELATED [OMIM:152400]
synonym: "lipoprotein, variant of beta" EXACT [OMIM:152400]
xref: OMIM:152400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835357
property_value: exactMatch http://identifiers.org/omim/152400

[Term]
id: MONDO:0007912
name: lithium transport
synonym: "lithium transport" EXACT [OMIM:152420]
xref: OMIM:152420 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835356
property_value: exactMatch http://identifiers.org/omim/152420

[Term]
id: MONDO:0007913
name: low density lipoprotein, variation in molecular weight of
synonym: "LOW density lipoprotein, variation in molecular weight OF" RELATED [OMIM:152450]
xref: OMIM:152450 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835321
property_value: exactMatch http://identifiers.org/omim/152450

[Term]
id: MONDO:0007914
name: lumbar stenosis, familial
synonym: "lumbar stenosis, familial" EXACT [OMIM:152550]
xref: MESH:C563613 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:152550 {source="MONDO:equivalentTo"}
xref: UMLS:C1835320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:152550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563613
property_value: exactMatch http://identifiers.org/omim/152550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835320

[Term]
id: MONDO:0007915
name: systemic lupus erythematosus (disease)
def: "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." [NCIT:P378]
subset: ordo_disease
synonym: "disseminated lupus erythematosus" EXACT [CSP2005:0729-7721, DOID:9074]
synonym: "excess LMW-DNA" RELATED [OMIM:152700]
synonym: "excess lymphocyte low molecular weight DNA" RELATED [OMIM:152700]
synonym: "lupus erythematosus, systemic" EXACT [DOID:9074, MTH:U002054]
synonym: "SLE" EXACT [MONDO:Lexical, OMIM:152700]
synonym: "SLE - lupus erythematosus, systemic" EXACT [DOID:9074, NCIT:C3201]
synonym: "systemic lupus erythematosus" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:152700]
synonym: "systemic lupus erythematosus; SLE" RELATED [OMIM:152700]
xref: COHD:257628 {source="MONDO:equivalentTo"}
xref: DOID:9074 {source="MONDO:equivalentTo", source="EFO:0002690"}
xref: EFO:0002690 {source="DOID:9074", source="MONDO:equivalentTo"}
xref: HP:0002725 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M32 {source="DOID:9074"}
xref: ICD10:M32.0 {source="Orphanet:536"}
xref: ICD10:M32.1 {source="Orphanet:536"}
xref: ICD10:M32.8 {source="Orphanet:536"}
xref: ICD10:M32.9 {source="Orphanet:536", source="DOID:9074"}
xref: ICD9:710.0 {source="DOID:9074", source="MONDO:equivalentTo", source="i2s", source="EFO:0002690"}
xref: KEGG:05322 {source="DOID:9074", source="MONDO:equivalentTo"}
xref: MESH:D008180 {source="Orphanet:536", source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0002690"}
xref: NCIT:C3201 {source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0002690"}
xref: OMIM:152700 {source="DOID:9074", source="MONDO:equivalentTo", source="http://orcid.org/0000-0002-6601-2165", source="EFO:0002690"}
xref: Orphanet:536 {source="OMIM:152700", source="DOID:9074", source="MONDO:equivalentTo"}
xref: SCTID:55464009 {source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0002690"}
is_a: MONDO:0004670 {source="DOID:9074", source="NCIT:C3201", source="linkedlifedata"} ! lupus erythematosus
is_a: MONDO:0015939 {source="Orphanet:536"} ! systemic autoimmune disease
is_a: MONDO:0019724 {source="Orphanet:536"} ! secondary glomerular disease
is_a: MONDO:0019737 {source="Orphanet:536"} ! thrombotic microangiopathy
property_value: closeMatch http://identifiers.org/snomedct/156450004
property_value: closeMatch http://identifiers.org/snomedct/201435004
property_value: closeMatch http://identifiers.org/snomedct/201439005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024141
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835308
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835309
property_value: exactMatch DOID:9074
property_value: exactMatch http://identifiers.org/mesh/D008180
property_value: exactMatch http://identifiers.org/omim/152700
property_value: exactMatch http://identifiers.org/snomedct/55464009
property_value: exactMatch NCIT:C3201
property_value: exactMatch Orphanet:536

[Term]
id: MONDO:0007916
name: primary intestinal lymphangiectasia
def: "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." [Orphanet:90362]
subset: gard_rare {source="GARD:0007873"}
subset: ordo_disease {source="Orphanet:90362"}
synonym: "familial Waldmann's disease (type)" RELATED [GARD:0007873]
synonym: "lymphangiectasia, intestinal" RELATED [OMIM:152800]
synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873]
synonym: "Waldmann disease" EXACT [Orphanet:90362]
synonym: "Waldmann's disease" RELATED [GARD:0007873]
xref: GARD:0007873 {source="MONDO:equivalentTo"}
xref: ICD10:I89.0 {source="Orphanet:90362", source="ORDO:90362/attributed", source="ORDO:90362/ntbt"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:152800 {source="ORDO:90362/e", source="Orphanet:90362", source="MONDO:equivalentTo"}
xref: Orphanet:90362 {source="OMIM:152800", source="MONDO:equivalentTo"}
xref: SCTID:6124009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267372 {source="ORDO:90362/e", source="Orphanet:90362", source="MONDO:equivalentTo"}
xref: UMLS:CN206410 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018178 {source="Orphanet:90362", source="linkedlifedata"} ! intestinal lymphangiectasia (disease)
property_value: exactMatch http://identifiers.org/mesh/C536567
property_value: exactMatch http://identifiers.org/omim/152800
property_value: exactMatch http://identifiers.org/snomedct/6124009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206410
property_value: exactMatch Orphanet:90362
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia xsd:anyURI {source="GARD:0007873"}

[Term]
id: MONDO:0007917
name: lymphedema-cerebral arteriovenous anomaly syndrome
def: "Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." [Orphanet:86914]
subset: ordo_malformation_syndrome {source="Orphanet:86914"}
synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900]
synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217]
xref: GARD:0009217 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C563612 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:152900 {source="MONDO:equivalentTo", source="ORDO:86914/e", source="Orphanet:86914"}
xref: Orphanet:86914 {source="OMIM:152900", source="MONDO:equivalentTo"}
xref: UMLS:C1835272 {source="OMIM:152900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86914"}
is_a: MONDO:0016235 {source="Orphanet:86914"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0019520 {source="Orphanet:86914"} ! syndromic lymphedema
property_value: exactMatch http://identifiers.org/mesh/C563612
property_value: exactMatch http://identifiers.org/omim/152900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835272
property_value: exactMatch Orphanet:86914

[Term]
id: MONDO:0007918
name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
def: "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [Orphanet:2526]
subset: ordo_malformation_syndrome {source="Orphanet:2526"}
synonym: "Cdmmr syndrome" RELATED [OMIM:152950]
synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT [DOID:0060349]
synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [DOID:0060349]
synonym: "lymphedema and retinal Folds with microcephaly and microphthalmos" RELATED [OMIM:152950]
synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [DOID:0060349, GARD:0003622]
synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" RELATED [OMIM:152950]
synonym: "MCLMR" RELATED [MONDO:Lexical, OMIM:152950]
synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" RELATED [OMIM:152950]
synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [DOID:0060349]
synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" EXACT [MONDO:Lexical, OMIM:152950]
synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR" RELATED [OMIM:152950]
synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [DOID:0060349, OMIM:152950]
synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [Orphanet:2526]
synonym: "MLCRD" EXACT [Orphanet:2526]
synonym: "Mlcrd syndrome" RELATED [OMIM:152950]
xref: DOID:0060349 {source="MONDO:equivalentTo"}
xref: GARD:0003622 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2526/attributed", source="ORDO:2526/ntbt", source="Orphanet:2526"}
xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e", source="MONDO:ontobio"}
xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e"}
xref: Orphanet:2526 {source="MONDO:equivalentTo", source="DOID:0060349", source="OMIM:152950"}
xref: UMLS:C1835265 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e", source="OMIM:152950"}
is_a: MONDO:0017119 {source="Orphanet:2526"} ! syndrome with microcephaly as major feature
is_a: MONDO:0018722 {source="Orphanet:2526"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:2526"} ! syndromic lymphedema
is_a: MONDO:0043218 ! neurovascular disease
relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2526"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3501946
property_value: exactMatch DOID:0060349
property_value: exactMatch http://identifiers.org/mesh/C537711
property_value: exactMatch http://identifiers.org/omim/152950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835265
property_value: exactMatch Orphanet:2526

[Term]
id: MONDO:0007919
name: lymphedema, hereditary, 1A
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FLT4 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary lymphedema caused by mutation in FLT4" EXACT [MONDO:design_pattern]
synonym: "LMPH1A" RELATED [MONDO:Lexical, OMIM:153100]
synonym: "lymphedema, early-onset" RELATED [OMIM:153100]
synonym: "lymphedema, hereditary, IA" RELATED [MONDO:Lexical, OMIM:153100]
synonym: "lymphedema, hereditary, IA; LMPH1A" RELATED [OMIM:153100]
synonym: "lymphedema, hereditary, type 1A" EXACT [MONDORULE:4, OMIM:153100]
synonym: "Milroy disease" RELATED [OMIM:153100]
synonym: "Nonne-Milroy lymphedema" RELATED [OMIM:153100]
synonym: "primary congenital lymphedema" RELATED [OMIM:153100]
xref: DOID:0070210 {source="MONDO:equivalentTo"}
xref: OMIM:153100 {source="MONDO:equivalentTo"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="MONDOLEX:0007919", source="OMIM:153100", source="ORDO:79452/btnt"} ! hereditary lymphedema
property_value: exactMatch DOID:0070210
property_value: exactMatch http://identifiers.org/omim/153100

[Term]
id: MONDO:0007920
name: Meige disease
def: "Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." [Orphanet:90186]
subset: ordo_disease {source="Orphanet:90186"}
synonym: "hereditary lymphedema type II" EXACT [Orphanet:90186]
synonym: "late-onset lymphedema" EXACT [DOID:0070213]
synonym: "late-onset primary lymphedema" EXACT [Orphanet:90186]
synonym: "LMPH2" EXACT [DOID:0070213, MONDO:Lexical, OMIM:153200]
synonym: "lymphedema hereditary type 2" RELATED [GARD:0003324]
synonym: "lymphedema praecox" RELATED [OMIM:153200]
synonym: "lymphedema preacox" EXACT [DOID:0070213]
synonym: "lymphedema, hereditary, II" RELATED [MONDO:Lexical, OMIM:153200]
synonym: "lymphedema, hereditary, II; LMPH2" RELATED [OMIM:153200]
synonym: "lymphedema, late-onset" RELATED [OMIM:153200]
synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200]
synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186]
xref: DOID:0070213 {source="MONDO:equivalentTo"}
xref: GARD:0003324 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:3324 {source="DOID:0070213"}
xref: ICD10:Q82.0 {source="MONDO:subClassOf", source="Orphanet:90186", source="ORDO:90186/ntbt", source="ORDO:90186/index"}
xref: MedDRA:10027138 {source="ORDO:90186/e", source="Orphanet:90186"}
xref: MESH:C562467 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:153200 {source="ORDO:90186/e", source="Orphanet:90186", source="MONDO:equivalentTo", source="DOID:0070213"}
xref: ORDO:90186 {source="DOID:0070213"}
xref: Orphanet:90186 {source="MONDO:equivalentTo", source="OMIM:153200"}
xref: SCTID:400040008 {source="MONDO:equivalentTo"}
is_a: MONDO:0000486 {source="DOID:3982"} ! craniofacial dystonia
is_a: MONDO:0019313 {source="DOID:0070213", source="MONDOLEX:0007920", source="OMIM:153200"} ! hereditary lymphedema
is_a: MONDO:0043218 ! neurovascular disease
is_a: MONDO:0044807 ! inherited dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238261
property_value: exactMatch DOID:0070213
property_value: exactMatch http://identifiers.org/meddra/10027138
property_value: exactMatch http://identifiers.org/mesh/C562467
property_value: exactMatch http://identifiers.org/omim/153200
property_value: exactMatch http://identifiers.org/snomedct/400040008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704425
property_value: exactMatch Orphanet:90186

[Term]
id: MONDO:0007921
name: yellow nail syndrome
def: "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." [Orphanet:662]
subset: gard_rare {source="GARD:0000184"}
subset: ordo_disease {source="Orphanet:662"}
synonym: "lymphedema and Yellow nails" RELATED [OMIM:153300]
synonym: "lymphedema with yellow nails" EXACT [Orphanet:662]
synonym: "yellow nail syndrome" EXACT [OMIM:153300]
synonym: "YNS" EXACT [Orphanet:662]
synonym: "Yns" RELATED [OMIM:153300]
xref: DOID:0050468 {source="MONDO:equivalentTo"}
xref: EFO:1001452 {source="MONDO:equivalentTo"}
xref: GARD:0000184 {source="MONDO:equivalentTo"}
xref: ICD10:L60.5 {source="ORDO:662/ntbt", source="MONDO:equivalentTo", source="DOID:0050468", source="Orphanet:662"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:757.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048244 {source="ORDO:662/e", source="Orphanet:662"}
xref: MESH:D056684 {source="MONDO:equivalentTo", source="DOID:0050468", source="MONDO:ontobio"}
xref: NCIT:C85238 {source="MONDO:equivalentTo", source="DOID:0050468", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:153300 {source="MONDO:equivalentTo", source="DOID:0050468", source="ORDO:662/e", source="Orphanet:662"}
xref: Orphanet:662 {source="MONDO:equivalentTo", source="OMIM:153300"}
xref: SCTID:400211001 {source="MONDO:equivalentTo", source="DOID:0050468", source="MONDO:kboom-pr-1.00/0.79/7.68"}
xref: UMLS:C0221348 {source="NCIT:C85238", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050468", source="OMIM:153300", source="Orphanet:662"}
is_a: MONDO:0017017 {source="Orphanet:662"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
is_a: MONDO:0018722 {source="Orphanet:662"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019285 {source="Orphanet:662"} ! syndromic nail anomaly
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:662"} ! syndromic lymphedema
property_value: closeMatch http://identifiers.org/snomedct/45342007
property_value: exactMatch DOID:0050468
property_value: exactMatch http://identifiers.org/meddra/10048244
property_value: exactMatch http://identifiers.org/mesh/D056684
property_value: exactMatch http://identifiers.org/omim/153300
property_value: exactMatch http://identifiers.org/snomedct/400211001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221348
property_value: exactMatch NCIT:C85238
property_value: exactMatch Orphanet:662
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome xsd:anyURI {source="GARD:0000184"}

[Term]
id: MONDO:0007922
name: lymphedema-distichiasis syndrome
def: "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." [Orphanet:33001]
subset: gard_rare {source="GARD:0000333"}
subset: ordo_malformation_syndrome {source="Orphanet:33001"}
synonym: "hereditary lymphedema-distichiasis syndrome (subtype)" RELATED [GARD:0000333]
synonym: "lymphedema with distichiasis" RELATED [OMIM:153400]
synonym: "lymphedema-distichiasis syndrome" EXACT [OMIM:153400]
synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400]
xref: GARD:0000333 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.0 {source="ORDO:33001/attributed", source="ORDO:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537710 {source="MONDO:equivalentTo", source="ORDO:33001/e", source="Orphanet:33001"}
xref: NCIT:C128191 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:153400 {source="MONDO:equivalentTo", source="ORDO:33001/e", source="Orphanet:33001"}
xref: Orphanet:33001 {source="MONDO:equivalentTo", source="OMIM:153400"}
xref: SCTID:8634009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0265345 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128191", source="ORDO:33001/e", source="Orphanet:33001", source="OMIM:153400"}
is_a: MONDO:0018722 {source="Orphanet:33001"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:33001"} ! syndromic lymphedema
is_a: MONDO:0020162 {source="Orphanet:33001"} ! secondary ectropion
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:33001"} ! obsolete eyebrow/eyelashes distichiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675066
property_value: exactMatch http://identifiers.org/mesh/C537710
property_value: exactMatch http://identifiers.org/omim/153400
property_value: exactMatch http://identifiers.org/snomedct/8634009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265345
property_value: exactMatch NCIT:C128191
property_value: exactMatch Orphanet:33001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome xsd:anyURI {source="GARD:0000333"}

[Term]
id: MONDO:0007923
name: macrocephaly, benign familial
subset: gard_rare {source="GARD:0000147"}
synonym: "benign familial macrocephaly" RELATED [GARD:0000147]
synonym: "benign familial megalencephaly" RELATED [GARD:0000147]
synonym: "Cole-Hughes syndrome" RELATED [OMIM:153470]
synonym: "macrocephaly, benign familial" EXACT [OMIM:153470]
xref: GARD:0000147 {source="MONDO:equivalentTo"}
xref: MESH:C537717 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:153470 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220690
property_value: exactMatch http://identifiers.org/mesh/C537717
property_value: exactMatch http://identifiers.org/omim/153470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial xsd:anyURI {source="GARD:0000147"}

[Term]
id: MONDO:0007924
name: Bannayan-Riley-Ruvalcaba syndrome
def: "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." [Orphanet:109]
subset: gard_rare {source="GARD:0005887"}
subset: ordo_malformation_syndrome {source="Orphanet:109"}
synonym: "Bannayan syndrome" EXACT [NCIT:C3939]
synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [MONDO:Lexical, NCIT:C3939, OMIM:153480]
synonym: "Bannayan-RILEY-Ruvalcaba syndrome; BRRS" RELATED [OMIM:153480]
synonym: "Bannayan-Zonana syndrome" EXACT [DOID:0050657, NCIT:C3939, OMIM:153480]
synonym: "BRRS" EXACT [MONDO:Lexical, OMIM:153480, Orphanet:109]
synonym: "BZS" RELATED [GARD:0005887]
synonym: "macrocephaly multiple lipomas and hemangiomata" RELATED [GARD:0005887]
synonym: "macrocephaly pseudopapilledema and multiple hemangiomas" RELATED [GARD:0005887]
synonym: "macrocephaly with multiple lipomas and hemangiomas" EXACT [NCIT:C3939]
synonym: "macrocephaly, multiple lipomas, and hemangiomata" RELATED [OMIM:153480]
synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" RELATED [OMIM:153480]
synonym: "Myhre-Riley-Smith syndrome" EXACT [Orphanet:109]
synonym: "RILEY-SMITH syndrome" EXACT [DOID:0050657]
synonym: "Riley-Smith syndrome" RELATED [OMIM:153480]
synonym: "RMSS" RELATED [GARD:0005887]
synonym: "Ruvalcaba -Myhre-Smith syndrome" RELATED [GARD:0005887]
synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657]
synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480]
xref: DOID:0050657 {source="MONDO:equivalentTo"}
xref: GARD:0005887 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:109", source="ORDO:109/attributed", source="ORDO:109/ntbt"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3939 {source="MONDO:equivalentTo"}
xref: OMIM:153480 {source="ORDO:109/e", source="MONDO:equivalentTo", source="Orphanet:109", source="DOID:0050657"}
xref: Orphanet:109 {source="OMIM:153480", source="MONDO:equivalentTo"}
xref: SCTID:21984008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.12"}
xref: UMLS:C0265326 {source="ORDO:109/e", source="NCBI:mim2gene_medline", source="NCIT:C3939", source="OMIM:153480", source="MONDO:equivalentTo", source="Orphanet:109"}
is_a: MONDO:0000426 {source="DOID:0050657", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="Orphanet:109"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:109"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015185 {source="Orphanet:109"} ! intestinal polyposis syndrome
is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:109", source="Orphanet:109/inferred"} ! genetic vascular anomaly
is_a: MONDO:0016235 {source="Orphanet:109"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0017623 {source="Orphanet:109"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0018188 {source="Orphanet:109"} ! genetic intestinal polyposis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019716 {source="Orphanet:109"} ! overgrowth syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:0050657
property_value: exactMatch http://identifiers.org/omim/153480
property_value: exactMatch http://identifiers.org/snomedct/21984008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265326
property_value: exactMatch NCIT:C3939
property_value: exactMatch Orphanet:109
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome xsd:anyURI {source="GARD:0005887"}

[Term]
id: MONDO:0007925
name: chromosome 5q deletion syndrome
def: "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)" [NCIT:P378]
subset: ordo_disease {source="Orphanet:86841"}
synonym: "5q deletion syndrome" RELATED [GARD:0008723]
synonym: "5Q minus syndrome" EXACT [NCIT:C6867]
synonym: "5q syndrome" RELATED [GARD:0008723]
synonym: "5Q- syndrome" EXACT [NCIT:C6867, OMIM:153550]
synonym: "5q- syndrome" EXACT [NCIT:C6867, Orphanet:86841]
synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [DOID:0090016]
synonym: "chromosome 5q deletion syndrome" EXACT [OMIM:153550]
synonym: "macrocytic Anemia, refractory, due to 5Q deletion" RELATED [OMIM:153550]
synonym: "MAR" RELATED [GARD:0008723]
synonym: "megakaryocytes, unilobular nucleated" RELATED [OMIM:153550]
synonym: "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" EXACT [NCIT:C6867]
synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [DOID:0090016]
synonym: "myelodysplastic syndrome with 5q deletion" EXACT [NCIT:C6867]
synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [NCIT:C6867]
synonym: "refractory macrocytic anemia due to 5q deletion" RELATED [GARD:0008723]
xref: COHD:136950 {source="MONDO:equivalentTo"}
xref: DOID:0090016 {source="MONDO:equivalentTo"}
xref: GARD:0008723 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D46.7 {source="Orphanet:86841", source="DOID:0090016", source="ORDO:86841/ntbt"}
xref: ICDO:9986/3 {source="NCIT:C6867"}
xref: MESH:C535323 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6867 {source="MONDO:equivalentTo"}
xref: OMIM:153550 {source="ORDO:86841/e", source="Orphanet:86841", source="MONDO:equivalentTo", source="DOID:0090016"}
xref: Orphanet:86841 {source="MONDO:equivalentTo", source="DOID:0090016", source="OMIM:153550"}
xref: SCTID:277597005 {source="MONDO:equivalentTo"}
xref: UMLS:CN206233 {source="MONDO:equivalentTo"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0002281 {source="DOID:0090016", source="MESH:C535323", source="MONDOLEX:0007925"} ! macrocytic anemia (disease)
is_a: MONDO:0016904 ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0018881 {source="NCIT:C6867", source="Orphanet:86841", source="linkedlifedata"} ! myelodysplastic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740302
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292779
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835193
property_value: exactMatch DOID:0090016
property_value: exactMatch http://identifiers.org/mesh/C535323
property_value: exactMatch http://identifiers.org/omim/153550
property_value: exactMatch http://identifiers.org/snomedct/277597005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206233
property_value: exactMatch NCIT:C6867
property_value: exactMatch Orphanet:86841

[Term]
id: MONDO:0007926
name: Waldenstrom macroglobulinemia
def: "Waldenstrom macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein." [Orphanet:33226]
subset: ordo_disease {source="Orphanet:33226"}
subset: predisposition
synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [DOID:0060901]
synonym: "macroglobulinemia of Waldenstrom" RELATED [GARD:0007872]
synonym: "macroglobulinemia, Waldenstrom, somatic" RELATED [OMIM:153600]
synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:153600]
synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 1; WM1" RELATED [OMIM:153600]
synonym: "Waldenstroem's macroglobulinemia" RELATED [DOID:0060901]
synonym: "Waldenstrom macroglobulinemia" EXACT [NCIT:C80307]
synonym: "Waldenstrom's macroglobulinaemia" RELATED [GARD:0007872]
synonym: "Waldenstrom's macroglobulinemia" EXACT [NCIT:C80307]
synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872]
synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307]
synonym: "WM1" RELATED [MONDO:Lexical, OMIM:153600]
xref: DOID:0060901 {source="MONDO:equivalentTo"}
xref: GARD:0007872 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"}
xref: MedDRA:10047801 {source="Orphanet:33226", source="ORDO:33226/e"}
xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"}
xref: NCIT:C80307 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:153600 {source="Orphanet:33226", source="MONDO:equivalentTo", source="ORDO:33226/e"}
xref: ONCOTREE:WM {source="MONDO:equivalentTo"}
xref: Orphanet:33226 {source="MONDO:equivalentTo", source="DOID:0060901", source="OMIM:153600"}
xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", source="NCIT:C80307", source="DOID:0060901", source="ORDO:33226/e"}
is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma
is_a: MONDO:0016138 {source="Orphanet:33226"} ! malignant lymphoma with peripheral neuropathy
is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835192
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549870
property_value: exactMatch DOID:0060901
property_value: exactMatch http://identifiers.org/meddra/10047801
property_value: exactMatch http://identifiers.org/mesh/D008258
property_value: exactMatch http://identifiers.org/omim/153600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024419
property_value: exactMatch NCIT:C80307
property_value: exactMatch Orphanet:33226

[Term]
id: MONDO:0007927
name: congenital macroglossia
subset: ordo_malformation_syndrome {source="Orphanet:2430"}
synonym: "macroglossia" RELATED [OMIM:153630]
xref: ICD10:Q38.2 {source="Orphanet:2430", source="ORDO:2430/attributed", source="ORDO:2430/ntbt"}
xref: ICD9:750.15 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C531735 {source="Orphanet:2430", source="ORDO:2430/e", source="MONDO:equivalentTo"}
xref: OMIM:153630 {source="Orphanet:2430", source="ORDO:2430/e", source="MONDO:equivalentTo"}
xref: Orphanet:2430 {source="MONDO:equivalentTo", source="OMIM:153630"}
xref: SCTID:270516002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.27"}
is_a: MONDO:0015496 {source="MESH:C531735", source="Orphanet:2430"} ! macroglossia
property_value: exactMatch http://identifiers.org/mesh/C531735
property_value: exactMatch http://identifiers.org/omim/153630
property_value: exactMatch http://identifiers.org/snomedct/270516002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009677
property_value: exactMatch Orphanet:2430

[Term]
id: MONDO:0007928
name: obsolete Fechtner syndrome
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0007929
name: obsolete Epstein syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/396 xsd:string
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0007930
name: Bernard-Soulier syndrome, type A2, autosomal dominant
alt_id: MONDO:0000915
def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p." [DOID:0111059, PMID:11222377, PMID:1730088]
synonym: "Bernard-Soulier syndrome type A2" RELATED [DOID:0111059]
synonym: "Bernard-Soulier syndrome, type A2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:153670]
synonym: "Bernard-Soulier syndrome, type A2, autosomal dominant; BSSA2" RELATED [OMIM:153670]
synonym: "BSSA2" EXACT [DOID:0111059, MONDO:Lexical, OMIM:153670]
xref: DOID:0111059 {source="MONDO:equivalentTo"}
xref: OMIM:153670 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="DOID:0111059"}
xref: UMLS:C3277076 {source="MONDO:equivalentTo", source="OMIM:153670"}
is_a: MONDO:0009276 {source="DOID:0111059", source="MONDOLEX:0007930", source="OMIM:153670"} ! Bernard-Soulier syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750610
property_value: exactMatch DOID:0111059
property_value: exactMatch http://identifiers.org/omim/153670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3277076

[Term]
id: MONDO:0007931
name: vitelliform macular dystrophy 2
def: "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:1243]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1243"}
synonym: "Best disease" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "Best vitelliform macular dystrophy, multifocal" RELATED [OMIM:153700]
synonym: "BEST1 retinopathy" EXACT [GARD:0010301]
synonym: "BMD" EXACT [Orphanet:1243]
synonym: "BVMD" EXACT [GARD:0000182, Orphanet:1243]
synonym: "early-onset vitelliform macular dystrophy" EXACT [Orphanet:1243]
synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "macular Degeneration, polymorphic vitelline" RELATED [OMIM:153700]
synonym: "macular degeneration, polymorphic vitelline" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "macular degeneration, polymorphic vitelline" RELATED [GARD:0000182]
synonym: "macular dystrophy, vitelliform, 2" RELATED [MONDO:Lexical, OMIM:153700]
synonym: "macular dystrophy, vitelliform, 2; VMD2" RELATED [OMIM:153700]
synonym: "macular dystrophy, vitelliform, type 2" EXACT [MONDORULE:1, OMIM:153700]
synonym: "polymorphic vitelline macular degeneration" EXACT [Orphanet:1243]
synonym: "vitelliform macular dystrophy type 2" EXACT [GARD:0000182, Orphanet:1243]
synonym: "vitelliform macular dystrophy, early-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "vitelliform macular dystrophy, early-onset" RELATED [OMIM:153700]
synonym: "vitelliform macular dystrophy, juvenile-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "vitelliform macular dystrophy, juvenile-onset" RELATED [OMIM:153700]
synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "VMD2" RELATED [GARD:0000182, MONDO:Lexical, OMIM:153700]
xref: GARD:0000182 {source="MONDO:equivalentTo"}
xref: GARD:0010301 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:1243", source="ORDO:1243/inclusion", source="ORDO:1243/ntbt"}
xref: OMIM:153700 {source="ORDO:1243/e", source="Orphanet:1243", source="MONDO:equivalentTo", source="GARD:0000182"}
xref: Orphanet:1243 {source="MONDO:equivalentTo", source="GARD:0000182", source="OMIM:153700"}
xref: SCTID:763387005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000390 {source="DC-OMIM:153700", source="OMIM:153700"} ! vitelliform macular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2745945
property_value: exactMatch http://identifiers.org/omim/153700
property_value: exactMatch http://identifiers.org/snomedct/763387005
property_value: exactMatch Orphanet:1243
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy xsd:anyURI {source="GARD:0010301"}

[Term]
id: MONDO:0007932
name: age related macular degeneration 2
def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." [DOID:0110015, PMID:10396622]
synonym: "age related macular degeneration type 2" EXACT [DOID:0110015, MONDORULE:1]
synonym: "ARMD2" EXACT [DOID:0110015, MONDO:Lexical, OMIM:153800]
synonym: "macular degeneration, age-related, 2" RELATED [MONDO:Lexical, OMIM:153800]
synonym: "macular degeneration, age-related, 2; ARMD2" RELATED [OMIM:153800]
synonym: "macular Degeneration, age-related, type 2" EXACT [MONDORULE:1, OMIM:153800]
synonym: "macular Degeneration, Senile" RELATED [OMIM:153800]
synonym: "maculopathy, age-related, 2" RELATED [OMIM:153800]
xref: DOID:0110015 {source="MONDO:equivalentTo"}
xref: MESH:C562479 {source="MONDO:equivalentTo"}
xref: OMIM:153800 {source="MONDO:equivalentTo", source="DOID:0110015"}
xref: UMLS:C3495438 {source="OMIM:153800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="DC-OMIM:153800", source="DOID:0110015", source="OMIM:153800"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110015
property_value: exactMatch http://identifiers.org/mesh/C562479
property_value: exactMatch http://identifiers.org/omim/153800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495438

[Term]
id: MONDO:0007933
name: vitelliform macular dystrophy 1
synonym: "macular dystrophy, atypical vitelliform" RELATED [OMIM:153840]
synonym: "macular dystrophy, vitelliform, 1" RELATED [MONDO:Lexical, OMIM:153840]
synonym: "macular dystrophy, vitelliform, 1; VMD1" RELATED [OMIM:153840]
synonym: "vitelliform macular dystrophy, atypical" RELATED [GARD:0010120]
synonym: "VMD1" EXACT [MONDO:Lexical, OMIM:153840]
xref: GARD:0010120 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:153840 {source="MONDO:equivalentTo"}
is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835178
property_value: exactMatch http://identifiers.org/mesh/C537832
property_value: exactMatch http://identifiers.org/omim/153840

[Term]
id: MONDO:0007934
name: benign concentric annular macular dystrophy
def: "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." [Orphanet:251287]
subset: ordo_disease {source="Orphanet:251287"}
synonym: "macular dystrophy, benign concentric annular" RELATED [OMIM:153870]
synonym: "macular dystrophy, concentric annular" RELATED [OMIM:153870]
synonym: "maculopathy, bull's eye" RELATED [GARD:0009887]
synonym: "Mcdca" RELATED [OMIM:153870]
xref: GARD:0009887 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:251287", source="ORDO:251287/attributed", source="ORDO:251287/ntbt"}
xref: MESH:C537833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:153870 {source="Orphanet:251287", source="ORDO:251287/e", source="MONDO:equivalentTo"}
xref: Orphanet:251287 {source="MONDO:equivalentTo", source="OMIM:153870"}
xref: SCTID:719520001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304667 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="Orphanet:251287", source="linkedlifedata"} ! genetic macular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537833
property_value: exactMatch http://identifiers.org/omim/153870
property_value: exactMatch http://identifiers.org/snomedct/719520001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1828210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304667
property_value: exactMatch Orphanet:251287

[Term]
id: MONDO:0007935
name: cystoid macular edema
def: "Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis." [Orphanet:75381]
subset: ordo_disease {source="Orphanet:75381"}
synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381]
synonym: "cystoid macular dystrophy" RELATED [OMIM:153880]
synonym: "DCMD" EXACT [MONDO:Lexical, OMIM:153880, Orphanet:75381]
synonym: "familial macular edema" EXACT [Orphanet:75381]
synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:153880]
synonym: "macular dystrophy, dominant cystoid; DCMD" RELATED [OMIM:153880]
synonym: "macular edema, cystoid" RELATED [OMIM:153880]
synonym: "Mddc" RELATED [OMIM:153880]
xref: DOID:4447 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:75381/attributed", source="ORDO:75381/ntbt", source="Orphanet:75381"}
xref: NCIT:C34794 {source="MONDO:equivalentTo", source="DOID:4447", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:153880 {source="MONDO:equivalentTo", source="ORDO:75381/e", source="DOID:4447", source="Orphanet:75381"}
xref: Orphanet:75381 {source="MONDO:equivalentTo", source="OMIM:153880"}
xref: SCTID:312921000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0024440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34794", source="DOID:4447", source="OMIM:153880"}
xref: UMLS:C0730317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003005 {source="DOID:4447", source="MONDOLEX:0007935", source="NCIT:C34794", source="linkedlifedata", source="linkedlifedata/inferred"} ! macular retinal edema
is_a: MONDO:0020244 {source="Orphanet:75381"} ! unclassified primitive or secondary maculopathy
property_value: closeMatch http://identifiers.org/mesh/D008269
property_value: closeMatch http://identifiers.org/snomedct/193387007
property_value: exactMatch DOID:4447
property_value: exactMatch http://identifiers.org/omim/153880
property_value: exactMatch http://identifiers.org/snomedct/312921000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730317
property_value: exactMatch NCIT:C34794
property_value: exactMatch Orphanet:75381

[Term]
id: MONDO:0007936
name: macular dystrophy, fenestrated sheen type
synonym: "macular dystrophy, fenestrated sheen type" EXACT [OMIM:153890]
xref: MESH:C563607 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:153890 {source="MONDO:equivalentTo"}
xref: UMLS:C1835173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:153890"}
is_a: MONDO:0018102 {source="MESH:C563607"} ! corneal dystrophy (disease)
is_a: MONDO:0020242 {source="MONDO:cjm"} ! genetic macular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563607
property_value: exactMatch http://identifiers.org/omim/153890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835173

[Term]
id: MONDO:0007937
name: renal hypomagnesemia 2
def: "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." [Orphanet:34528]
subset: gard_rare {source="GARD:0003350"}
subset: ordo_disease {source="Orphanet:34528"}
synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [DOID:0060885]
synonym: "familial primary hypomagnesemia caused by mutation in FXYD2" EXACT []
synonym: "FXYD2 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FXYD2 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HOMG2" EXACT [DOID:0060885, MONDO:Lexical, OMIM:154020, Orphanet:34528]
synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical, OMIM:154020]
synonym: "hypomagnesemia 2, renal; HOMG2" RELATED [OMIM:154020]
synonym: "isolated autosomal dominant hypomagnesemia" EXACT [Orphanet:34528]
synonym: "isolated renal magnesium wasting" EXACT [Orphanet:34528]
synonym: "magnesium loss, isolated renal" RELATED [OMIM:154020]
synonym: "magnesium wasting, renal" RELATED [OMIM:154020]
synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern]
synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528]
xref: DOID:0060885 {source="MONDO:equivalentTo"}
xref: GARD:0003350 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="ORDO:34528/attributed", source="ORDO:34528/ntbt"}
xref: MESH:C537152 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:154020 {source="ORDO:34528/e", source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528"}
xref: Orphanet:34528 {source="OMIM:154020", source="MONDO:equivalentTo", source="DOID:0060885"}
xref: SCTID:725393000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835171 {source="MEDGEN:kboom-pr98-c99", source="OMIM:154020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34528"}
xref: UMLS:C4511005 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017625 {source="Orphanet:34528"} ! familial primary hypomagnesemia with hypocalcuria
property_value: exactMatch DOID:0060885
property_value: exactMatch http://identifiers.org/mesh/C537152
property_value: exactMatch http://identifiers.org/omim/154020
property_value: exactMatch http://identifiers.org/snomedct/725393000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511005
property_value: exactMatch Orphanet:34528
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 xsd:anyURI {source="GARD:0003350"}

[Term]
id: MONDO:0007938
name: 46,XY sex reversal 4
def: "Sex reversal in an individual associated with a 9p24.3 deletion." [NCIT:C132270]
synonym: "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion" RELATED [OMIM:154230]
synonym: "46,XY sex reversal 4" EXACT [MONDO:Lexical, OMIM:154230]
synonym: "46,XY SEX reversal 4; SRXY4" RELATED [OMIM:154230]
synonym: "46,XY Sex reversal type 4" EXACT [MONDORULE:1, OMIM:154230]
synonym: "chromosome 9P24.3 deletion syndrome" RELATED [OMIM:154230]
synonym: "SRXY4" RELATED [MONDO:Lexical, OMIM:154230]
xref: MESH:C567887 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132270 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:154230 {source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MESH:C567887", source="MONDOLEX:0007938", source="OMIM:154230", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752149
property_value: exactMatch http://identifiers.org/mesh/C567887
property_value: exactMatch http://identifiers.org/omim/154230
property_value: exactMatch NCIT:C132270

[Term]
id: MONDO:0007939
name: malignant hyperthermia, susceptibility to, 2
subset: clingen
subset: gard_rare
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 2" RELATED [GARD:0003364, MESH:C535695]
synonym: "malignant hyperthermia susceptibility type 2" RELATED [GARD:0003364]
synonym: "malignant hyperthermia, susceptibility to, 2" EXACT [MESH:C535695, OMIM:154275]
synonym: "malignant hyperthermia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:154275]
synonym: "MHS2" RELATED [GARD:0003364, MESH:C535695]
synonym: "Mhs2" RELATED [OMIM:154275]
xref: GARD:0003364 {source="MONDO:equivalentTo"}
xref: MESH:C535695 {source="MONDO:equivalentTo"}
xref: OMIM:154275 {source="MONDO:equivalentTo", source="GARD:0003364"}
is_a: MONDO:0018493 {source="DC-OMIM:154275", source="MESH:C535695", source="MONDOLEX:0007939", source="OMIM:154275"} ! malignant hyperthermia of anesthesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835161
property_value: exactMatch http://identifiers.org/mesh/C535695
property_value: exactMatch http://identifiers.org/omim/154275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 xsd:anyURI {source="GARD:0003364"}

[Term]
id: MONDO:0007940
name: malignant hyperthermia, susceptibility to, 3
subset: gard_rare
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 3" RELATED [GARD:0003365, MESH:C535696]
synonym: "malignant hyperthermia susceptibility type 3" RELATED [GARD:0003365]
synonym: "malignant hyperthermia, susceptibility to, 3" EXACT [MESH:C535696, OMIM:154276]
synonym: "malignant hyperthermia, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:154276]
synonym: "MHS3" RELATED [GARD:0003365, MESH:C535696]
synonym: "Mhs3" RELATED [OMIM:154276]
xref: GARD:0003365 {source="MONDO:equivalentTo"}
xref: MESH:C535696 {source="MONDO:equivalentTo"}
xref: OMIM:154276 {source="GARD:0003365", source="MONDO:equivalentTo"}
is_a: MONDO:0018493 {source="DC-OMIM:154276", source="MESH:C535696", source="MONDOLEX:0007940", source="OMIM:154276"} ! malignant hyperthermia of anesthesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835160
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930982
property_value: exactMatch http://identifiers.org/mesh/C535696
property_value: exactMatch http://identifiers.org/omim/154276
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 xsd:anyURI {source="GARD:0003365"}

[Term]
id: MONDO:0007941
name: malocclusion due to protuberant upper front teeth
synonym: "malocclusion due to protuberant upper front teeth" EXACT [OMIM:154300]
xref: OMIM:154300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835159
property_value: exactMatch http://identifiers.org/omim/154300

[Term]
id: MONDO:0007942
name: Mammastatin
synonym: "Mammastatin" EXACT [OMIM:154370]
xref: OMIM:154370 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0286172
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887696
property_value: exactMatch http://identifiers.org/omim/154370

[Term]
id: MONDO:0007943
name: Nager acrofacial dysostosis
def: "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." [Orphanet:245]
subset: gard_rare {source="GARD:0000498"}
subset: ordo_malformation_syndrome {source="Orphanet:245"}
synonym: "acrofacial dysostosis 1, Nager type" EXACT [DOID:5768, MONDO:Lexical, OMIM:154400]
synonym: "acrofacial dysostosis 1, Nager type; AFD1" RELATED [OMIM:154400]
synonym: "AFD" RELATED [DOID:5768]
synonym: "AFD, Nager type" RELATED [OMIM:154400]
synonym: "AFD1" RELATED [MONDO:Lexical, OMIM:154400]
synonym: "mandibulofacial dysostosis with preaxial limb anomalies" EXACT [Orphanet:245]
synonym: "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" RELATED [OMIM:154400]
synonym: "NAFD" EXACT [Orphanet:245]
synonym: "Nager acrofacial dysostosis" EXACT [OMIM:154400, Orphanet:245]
synonym: "Nager acrofacial dysostosis syndrome" RELATED [GARD:0000498]
synonym: "Nager syndrome" RELATED [DOID:5768, OMIM:154400]
synonym: "preaxial acrodysostosis" EXACT [Orphanet:245]
synonym: "preaxial acrofacial dysostosis" RELATED [DOID:5768]
synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768]
synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498]
xref: DOID:5768 {source="MONDO:equivalentTo"}
xref: GARD:0000498 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.4 {source="ORDO:245/attributed", source="ORDO:245/ntbt", source="Orphanet:245"}
xref: MESH:C538184 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:245/e", source="Orphanet:245"}
xref: OMIM:154400 {source="DOID:5768", source="MONDO:equivalentTo", source="ORDO:245/e", source="Orphanet:245"}
xref: Orphanet:245 {source="MONDO:equivalentTo", source="OMIM:154400"}
xref: SCTID:35520007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.04"}
xref: UMLS:C0265245 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:154400", source="ORDO:245/e", source="Orphanet:245"}
is_a: MONDO:0015218 {source="Orphanet:245"} ! syndromic developmental defect of the eye
is_a: MONDO:0015321 {source="Orphanet:245"} ! Pierre Robin syndrome associated with branchial archs anomalies
is_a: MONDO:0015334 {source="Orphanet:245"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="DC-OMIM:154400", source="DOID:5768", source="Orphanet:245"} ! acrofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020157 {source="Orphanet:245"} ! syndromic palpebral coloboma
is_a: MONDO:0020167 {source="Orphanet:245"} ! malposition of external canthus
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:245"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:5768
property_value: exactMatch http://identifiers.org/mesh/C538184
property_value: exactMatch http://identifiers.org/omim/154400
property_value: exactMatch http://identifiers.org/snomedct/35520007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265245
property_value: exactMatch Orphanet:245
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis xsd:anyURI {source="GARD:0000498"}

[Term]
id: MONDO:0007944
name: Treacher-Collins syndrome 1
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mandibulofacial dysostosis" RELATED [OMIM:154500]
synonym: "TCOF1 Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS1" RELATED [MONDO:Lexical, OMIM:154500]
synonym: "Treacher Collins syndrome" RELATED [OMIM:154500]
synonym: "TREACHER COLLINS syndrome 1" RELATED [MONDO:Lexical, OMIM:154500]
synonym: "TREACHER COLLINS syndrome 1; TCS1" RELATED [OMIM:154500]
synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1, OMIM:154500]
synonym: "Treacher Collins-Franceschetti syndrome" RELATED [OMIM:154500]
synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern]
xref: OMIM:154500 {source="MONDO:equivalentTo", source="ORDO:861/e", source="Orphanet:861"}
xref: UMLS:CN119605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002457 {source="DC-OMIM:154500", source="MONDO:Redundant", source="MONDOLEX:0007944", source="OMIM:154500"} ! Treacher-Collins syndrome
property_value: exactMatch http://identifiers.org/omim/154500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242387
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119605

[Term]
id: MONDO:0007945
name: mannose 6-phosphate receptor recognition defect, Lebanese type
synonym: "mannose 6-phosphate receptor recognition defect, Lebanese type" EXACT [OMIM:154570]
synonym: "phosphodiester glycoside deficiency" RELATED [OMIM:154570]
xref: MESH:C563601 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:154570 {source="MONDO:equivalentTo"}
xref: UMLS:C1835134 {source="OMIM:154570", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563601/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563601
property_value: exactMatch http://identifiers.org/omim/154570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835134

[Term]
id: MONDO:0007946
name: jaw-winking syndrome
def: "Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis." [Orphanet:91412]
subset: ordo_disease {source="Orphanet:91412"}
synonym: "abnormal innervation syndrome of eyelid" RELATED [DOID:560, ICD9CM_2006:374.43]
synonym: "familial Marcus Gunn phenomenon (subtype)" RELATED [GARD:0006972]
synonym: "jaw-blinking" EXACT [DOID:560, MTHICD9_2006:374.43]
synonym: "jaw-winking" RELATED [OMIM:154600]
synonym: "jaw-winking syndrome" EXACT [Orphanet:91412]
synonym: "mandibulo-palpebral synkinesis-ptosis syndrome" EXACT [Orphanet:91412]
synonym: "Marcus Gunn phenomenon" RELATED [OMIM:154600]
synonym: "Marcus Gunn syndrome" RELATED [GARD:0006972]
synonym: "Marcus-Gunn phenomenon" EXACT [Orphanet:91412]
synonym: "Marcus-Gunn syndrome" EXACT [DOID:560, MTHICD9_2006:742.8]
synonym: "Maxillopalpebral synkinesis" RELATED [OMIM:154600]
synonym: "pterygoid-levator synkinesis" EXACT [DOID:560]
xref: DOID:560 {source="MONDO:equivalentTo"}
xref: GARD:0006972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q07.8 {source="ORDO:91412/ntbt", source="Orphanet:91412", source="DOID:560", source="ORDO:91412/inclusion"}
xref: ICD9:374.43 {source="MONDO:equivalentTo", source="i2s", source="DOID:560"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064583 {source="ORDO:91412/e", source="Orphanet:91412"}
xref: MESH:C535908 {source="MONDO:equivalentTo", source="DOID:560", source="MONDO:ontobio"}
xref: OMIM:154600 {source="MONDO:equivalentTo", source="ORDO:91412/e", source="Orphanet:91412", source="DOID:560"}
xref: Orphanet:91412 {source="MONDO:equivalentTo", source="OMIM:154600"}
xref: SCTID:5127009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:560"}
xref: UMLS:C0266521 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91412", source="DOID:560", source="OMIM:154600"}
is_a: MONDO:0003569 {source="DOID:560", source="linkedlifedata", source="linkedlifedata/inferred"} ! cranial nerve neuropathy
is_a: MONDO:0020169 {source="Orphanet:91412"} ! rare disorder with ptosis
property_value: closeMatch http://identifiers.org/snomedct/193949006
property_value: closeMatch http://identifiers.org/snomedct/204089009
property_value: closeMatch http://identifiers.org/snomedct/204090000
property_value: closeMatch http://identifiers.org/snomedct/36603006
property_value: exactMatch DOID:560
property_value: exactMatch http://identifiers.org/meddra/10064583
property_value: exactMatch http://identifiers.org/mesh/C535908
property_value: exactMatch http://identifiers.org/omim/154600
property_value: exactMatch http://identifiers.org/snomedct/5127009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266521
property_value: exactMatch Orphanet:91412

[Term]
id: MONDO:0007947
name: Marfan syndrome
def: "Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new ( de novo ) mutation. Treatment is based on the signs and symptoms in each person." [https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome]
subset: clingen
subset: gard_rare {source="GARD:0006975"}
subset: ordo_clinical_subtype {source="Orphanet:284963"}
subset: ordo_disease {source="Orphanet:558"}
subset: prototype_pattern {source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/101"}
synonym: "Marfan syndrome" EXACT [MONDO:Lexical, OMIM:154700]
synonym: "Marfan syndrome type 1" RELATED [Orphanet:284963]
synonym: "Marfan syndrome, type 1" RELATED [OMIM:154700]
synonym: "Marfan syndrome; MFS" EXACT [OMIM:154700]
synonym: "Marfan's syndrome" EXACT [DOID:14323]
synonym: "MFS" EXACT [MONDO:Lexical, OMIM:154700, Orphanet:558]
synonym: "MFS1" RELATED [Orphanet:284963]
xref: COHD:258540 {source="MONDO:equivalentTo"}
xref: DOID:14323 {source="MONDO:equivalentTo"}
xref: GARD:0006975 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.4 {source="ORDO:558/e", source="ORDO:284963/attributed", source="ORDO:284963/ntbt", source="ORDO:558/specific", source="Orphanet:558", source="Orphanet:284963", source="DOID:14323"}
xref: ICD10:Q87.40 {source="DOID:14323"}
xref: ICD9:759.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:14323"}
xref: MedDRA:10026829 {source="ORDO:558/e", source="Orphanet:558"}
xref: MESH:D008382 {source="ORDO:558/e", source="Orphanet:558", source="MONDO:equivalentTo", source="DOID:14323"}
xref: NCIT:C34807 {source="MONDO:equivalentTo", source="DOID:14323"}
xref: OMIM:154700 {source="Orphanet:558", source="MONDO:equivalentTo", source="ORDO:284963/e", source="ORDO:558/btnt", source="Orphanet:284963", source="DOID:14323"}
xref: Orphanet:284963 {source="MONDO:equivalentTo", source="OMIM:154700"}
xref: Orphanet:558 {source="MONDO:equivalentTo", source="OMIM:154700"}
xref: SCTID:19346006 {source="MONDO:equivalentTo", source="DOID:14323", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0024796 {source="ORDO:558/e", source="NCBI:mim2gene_medline", source="NCIT:C34807", source="Orphanet:558", source="MONDO:equivalentTo", source="DOID:14323", source="OMIM:154700"}
xref: UMLS:CN202883 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:14323", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015332 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0017310 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! Marfan and Marfan-related disorder
is_a: MONDO:0017311 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! rare disease with thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0020208 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! syndromic myopia
is_a: MONDO:0020211 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! syndromic keratoconus
is_a: MONDO:0020236 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! lens position anomaly
is_a: MONDO:0020272 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! connective tissue disease with eye involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/157024004
property_value: closeMatch http://identifiers.org/snomedct/157033002
property_value: closeMatch http://identifiers.org/snomedct/268359006
property_value: exactMatch DOID:14323
property_value: exactMatch http://identifiers.org/meddra/10026829
property_value: exactMatch http://identifiers.org/mesh/D008382
property_value: exactMatch http://identifiers.org/omim/154700
property_value: exactMatch http://identifiers.org/snomedct/19346006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202883
property_value: exactMatch NCIT:C34807
property_value: exactMatch Orphanet:284963
property_value: exactMatch Orphanet:558
property_value: excluded_synonym "Contractural arachnodactyly" xsd:string {source="GARD:0006975"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome xsd:anyURI {source="GARD:0006975"}

[Term]
id: MONDO:0007948
name: marfanoid hypermobility syndrome
subset: gard_rare {source="GARD:0003387"}
synonym: "marfanoid hypermobility syndrome" EXACT [OMIM:154750]
xref: GARD:0003387 {source="MONDO:equivalentTo"}
xref: MESH:C531742 {source="MONDO:equivalentTo"}
xref: OMIM:154750 {source="MONDO:equivalentTo"}
xref: UMLS:C0268365 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:154750"}
is_a: MONDO:0003847 {source="MESH:C531742/inferred"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0007947 {source="MESH:C531742"} ! Marfan syndrome
property_value: exactMatch http://identifiers.org/mesh/C531742
property_value: exactMatch http://identifiers.org/omim/154750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268365
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome xsd:anyURI {source="GARD:0003387"}

[Term]
id: MONDO:0007949
name: Marshall syndrome
def: "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." [Orphanet:560]
subset: ordo_malformation_syndrome {source="Orphanet:560"}
synonym: "deafness, myopia, cataract, saddle nose-Marshall type" RELATED [GARD:0006984]
synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780]
synonym: "Marshall syndrome; MRSHS" RELATED [OMIM:154780]
synonym: "MRSHS" RELATED [MONDO:Lexical, OMIM:154780]
xref: GARD:0006984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:560/attributed", source="ORDO:560/ntbt", source="Orphanet:560"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536025 {source="MONDO:equivalentTo", source="ORDO:560/e", source="Orphanet:560", source="MONDO:ontobio"}
xref: NCIT:C128115 {source="MONDO:kboom-pr-0.93/0.78/1.21", source="MONDO:equivalentTo"}
xref: OMIM:154780 {source="MONDO:equivalentTo", source="ORDO:560/e", source="Orphanet:560"}
xref: Orphanet:560 {source="MONDO:equivalentTo", source="OMIM:154780"}
xref: SCTID:33410002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128115", source="OMIM:154780", source="ORDO:560/e", source="Orphanet:560"}
is_a: MONDO:0015218 {source="Orphanet:560"} ! syndromic developmental defect of the eye
is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019287 {source="Orphanet:560", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019687 {source="Orphanet:560"} ! type 11 collagen-related bone disorder
is_a: MONDO:0020208 {source="Orphanet:560"} ! syndromic myopia
is_a: MONDO:0020222 {source="Orphanet:560"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:560"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536025
property_value: exactMatch http://identifiers.org/omim/154780
property_value: exactMatch http://identifiers.org/snomedct/33410002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265235
property_value: exactMatch NCIT:C128115
property_value: exactMatch Orphanet:560

[Term]
id: MONDO:0007950
name: mastocytosis
def: "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." [NCIT:C84269]
subset: ordo_group_of_disorders {source="Orphanet:98292"}
synonym: "MAST cell disease" RELATED [OMIM:154800]
synonym: "Mast cell disease" EXACT [NCIT:C84269]
synonym: "mast cell hyperplasia" EXACT [CSP2005:4006-0061, DOID:350]
synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800]
synonym: "urticaria pigmentosa" RELATED [OMIM:154800]
xref: DOID:350 {source="MONDO:equivalentTo"}
xref: GARD:0006987 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C96.2 {source="ORDO:98292/btnt", source="Orphanet:98292"}
xref: ICD10:D47.0 {source="ORDO:98292/btnt", source="Orphanet:98292"}
xref: ICD10:Q82.2 {source="MONDO:equivalentTo", source="ORDO:98292/btnt", source="DOID:350", source="Orphanet:98292"}
xref: MedDRA:10026891 {source="ORDO:98292/e", source="Orphanet:98292"}
xref: MESH:D008415 {source="ORDO:98292/e", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292"}
xref: NCIT:C84269 {source="MONDO:equivalentTo", source="DOID:350"}
xref: OMIM:154800 {source="ORDO:98292/e", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292"}
xref: ONCOTREE:MCD {source="MONDO:equivalentTo"}
xref: Orphanet:98292 {source="MONDO:equivalentTo", source="OMIM:154800"}
xref: UMLS:C0024899 {source="ORDO:98292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="NCIT:C84269", source="OMIM:154800"}
is_a: MONDO:0002724 {source="NCIT:C84269"} ! mast cell neoplasm
is_a: MONDO:0004805 {source="DOID:350"} ! leukocyte disease
is_a: MONDO:0019044 {source="Orphanet:98292"} ! tumor of hematopoietic and lymphoid tissues
property_value: closeMatch http://identifiers.org/snomedct/125541005
property_value: closeMatch http://identifiers.org/snomedct/397007003
property_value: exactMatch DOID:350
property_value: exactMatch http://identifiers.org/meddra/10026891
property_value: exactMatch http://identifiers.org/mesh/D008415
property_value: exactMatch http://identifiers.org/omim/154800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024899
property_value: exactMatch NCIT:C84269
property_value: exactMatch Orphanet:98292

[Term]
id: MONDO:0007951
name: masticatory muscles, hypertrophy of
synonym: "masseter muscle Hypertrophy" RELATED [OMIM:154850]
synonym: "masticatory muscles, hypertrophy of" EXACT [OMIM:154850]
xref: MESH:C563600 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:154850 {source="MONDO:equivalentTo"}
xref: SCTID:699649006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835093
property_value: exactMatch http://identifiers.org/mesh/C563600
property_value: exactMatch http://identifiers.org/omim/154850
property_value: exactMatch http://identifiers.org/snomedct/699649006

[Term]
id: MONDO:0007952
name: maxillofacial dysostosis
subset: gard_rare {source="GARD:0006991"}
synonym: "maxillofacial dysostosis" EXACT [OMIM:155000]
xref: GARD:0006991 {source="MONDO:equivalentTo"}
xref: MESH:C563599 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:155000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563599
property_value: exactMatch http://identifiers.org/omim/155000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835088
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis xsd:anyURI {source="GARD:0006991"}

[Term]
id: MONDO:0007953
name: binder syndrome
def: "Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." [Orphanet:1248]
subset: ordo_malformation_syndrome {source="Orphanet:1248"}
synonym: "Binder syndrome" EXACT [Orphanet:1248]
synonym: "binder syndrome" EXACT [OMIM:155050]
synonym: "binder type maxillonasal dysplasia" EXACT [DOID:14683]
synonym: "Maxillonasal dysostosis" EXACT [Orphanet:1248]
synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248]
synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050]
xref: DOID:14683 {source="MONDO:equivalentTo"}
xref: GARD:0006992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:1248/attributed", source="ORDO:1248/ntbt", source="Orphanet:1248"}
xref: MESH:C536036 {source="MONDO:equivalentTo", source="DOID:14683", source="MONDO:ontobio"}
xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="ORDO:1248/e", source="DOID:14683"}
xref: Orphanet:1248 {source="OMIM:155050", source="MONDO:equivalentTo"}
xref: SCTID:715985008 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: UMLS:C0220692 {source="OMIM:155050", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683"}
is_a: MONDO:0002232 {source="DOID:14683"} ! nasal cavity disease
is_a: MONDO:0015501 {source="Orphanet:1248"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:1248"} ! syndromic genetic deafness
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1248"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888567
property_value: exactMatch DOID:14683
property_value: exactMatch http://identifiers.org/mesh/C536036
property_value: exactMatch http://identifiers.org/omim/155050
property_value: exactMatch http://identifiers.org/snomedct/715985008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220692
property_value: exactMatch Orphanet:1248

[Term]
id: MONDO:0007954
name: May-Hegglin anomaly
def: "An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene." [NCIT:C131646]
subset: gard_rare
synonym: "Alport syndrome with macrothrombocytopenia" RELATED [OMIM:153640]
synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [OMIM:153640]
synonym: "bleeding disorder, Platelet-type, 6" RELATED [OMIM:155100]
synonym: "Brodie Chole griffin syndrome" RELATED [GARD:0000179]
synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [OMIM:155100]
synonym: "Epstein syndrome" EXACT [OMIM:153650]
synonym: "Fechtner syndrome" EXACT [MONDO:Lexical, OMIM:153640]
synonym: "Fechtner syndrome; FTNS" RELATED [OMIM:153640]
synonym: "FTNS" RELATED [MONDO:Lexical, OMIM:153640]
synonym: "giant platelet syndrome with thrombocytopenia" EXACT [OMIM:155100]
synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" RELATED [OMIM:155100]
synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; matins" RELATED [OMIM:155100]
synonym: "macrothrombocytopenia and progressive sensorineural deafness" EXACT [OMIM:600208]
synonym: "macrothrombocytopenia progressive deafness" RELATED [GARD:0000179]
synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" RELATED [OMIM:605249]
synonym: "macrothrombocytopenia with leukocyte inclusions" RELATED [OMIM:155100]
synonym: "macrothrombocytopenia, nephritis, and deafness" RELATED [] {source="OMIM:153650"}
synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" RELATED [OMIM:153640]
synonym: "matins" RELATED [OMIM:155100]
synonym: "May-Hegglin anomaly" EXACT [MONDO:Lexical, OMIM:155100]
synonym: "May-Hegglin anomaly; MHA" RELATED [OMIM:155100]
synonym: "May-Hegglin thrombocytopenia" EXACT [Orphanet:850]
synonym: "MHA" RELATED [MONDO:Lexical, OMIM:155100]
synonym: "SBS" RELATED [] {source="MONDO:Lexical", source="OMIM:605249"}
synonym: "Sebastian Platelet syndrome" RELATED [] {source="OMIM:605249"}
synonym: "Sebastian syndrome" EXACT [MONDO:Lexical, OMIM:605249]
synonym: "Sebastian syndrome; SBS" RELATED [] {source="OMIM:605249"}
xref: GARD:0000179 {source="MONDO:equivalentTo"}
xref: ICD9:582.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537831 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131639 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C131642 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C131646 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: NCIT:C131650 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:153640 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:153650 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:155100 {source="MONDO:equivalentTo"}
xref: OMIM:600208 {source="MONDO:obsoleteEquivalent", source="GARD:0000179"}
xref: OMIM:605249 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:1019 {source="MONDO:obsoleteEquivalent", source="OMIM:153650"}
xref: Orphanet:1984 {source="MONDO:obsoleteEquivalent", source="OMIM:153640"}
xref: Orphanet:807 {source="OMIM:605249", source="MONDO:obsoleteEquivalent"}
xref: Orphanet:850 {source="MONDO:equivalentTo", source="OMIM:155100"}
xref: SCTID:234484005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:234485006 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:236422008 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0398641 {source="MONDO:obsoleteEquivalent", source="NCIT:C131639", source="NCBI:mim2gene_medline", source="OMIM:153650"}
xref: UMLS:C0403445 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:153640", source="NCIT:C131642"}
xref: UMLS:C1834478 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:600208"}
xref: UMLS:CN226018 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226030 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226270 {source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0002254 {source="MONDOLEX:0007929", source="MONDOLEX:0011526", source="NCIT:C131639", source="NCIT:C131642", source="NCIT:C131646", source="NCIT:C131650"} ! syndromic disease
is_a: MONDO:0015912 ! MYH-9 related disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340978
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854520
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931641
property_value: exactMatch http://identifiers.org/mesh/C537831
property_value: exactMatch http://identifiers.org/omim/153640
property_value: exactMatch http://identifiers.org/omim/153650
property_value: exactMatch http://identifiers.org/omim/155100
property_value: exactMatch http://identifiers.org/omim/600208
property_value: exactMatch http://identifiers.org/omim/605249
property_value: exactMatch http://identifiers.org/snomedct/234484005
property_value: exactMatch http://identifiers.org/snomedct/234485006
property_value: exactMatch http://identifiers.org/snomedct/236422008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226270
property_value: exactMatch NCIT:C131639
property_value: exactMatch NCIT:C131642
property_value: exactMatch NCIT:C131646
property_value: exactMatch NCIT:C131650
property_value: exactMatch Orphanet:1019
property_value: exactMatch Orphanet:1984
property_value: exactMatch Orphanet:807
property_value: exactMatch Orphanet:850

[Term]
id: MONDO:0007955
name: Meckel's diverticulum
def: "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." [NCIT:P378]
synonym: "Meckel diverticulum" EXACT [DOID:9487, NCIT:C12264]
synonym: "Meckel diverticulum" RELATED [OMIM:155140]
synonym: "persistent vitelline duct" EXACT [DOID:9487, MTHICD9_2006:751.0]
xref: COHD:441394 {source="MONDO:equivalentTo"}
xref: DOID:9487 {source="MONDO:equivalentTo", source="EFO:1001036"}
xref: EFO:1001036 {source="MONDO:equivalentTo"}
xref: ICD10:Q43.0 {source="EFO:1001036", source="DOID:9487"}
xref: ICD9:751.0 {source="MONDO:equivalentTo", source="EFO:1001036", source="i2s", source="DOID:9487"}
xref: MedDRA:10027055 {source="EFO:1001036"}
xref: MESH:D008467 {source="MONDO:equivalentTo", source="EFO:1001036", source="MONDO:ontobio", source="DOID:9487"}
xref: NCIT:C12264 {source="MONDO:finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.91/26.29", source="DOID:9487"}
xref: OMIM:155140 {source="MONDO:equivalentTo", source="DOID:9487"}
xref: SCTID:37373007 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487", source="MONDO:kboom-pr-1.00/0.91/27.41"}
is_a: MONDO:0000839 {source="DOID:9487", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0003847 {source="EFO:1001036", source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://identifiers.org/meddra/10027055
property_value: closeMatch http://identifiers.org/snomedct/127962001
property_value: closeMatch http://identifiers.org/snomedct/156955000
property_value: closeMatch http://identifiers.org/snomedct/204685004
property_value: closeMatch http://identifiers.org/snomedct/204686003
property_value: closeMatch http://identifiers.org/snomedct/204689005
property_value: closeMatch http://identifiers.org/snomedct/204690001
property_value: closeMatch http://identifiers.org/snomedct/253775007
property_value: closeMatch http://identifiers.org/snomedct/264256006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025037
property_value: exactMatch DOID:9487
property_value: exactMatch http://identifiers.org/mesh/D008467
property_value: exactMatch http://identifiers.org/omim/155140
property_value: exactMatch http://identifiers.org/snomedct/37373007
property_value: exactMatch NCIT:C12264

[Term]
id: MONDO:0007956
name: Pai syndrome
def: "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." [Orphanet:1993]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1993"}
synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145]
synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145]
synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993]
synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439]
synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145]
xref: GARD:0003439 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1993", source="ORDO:1993/attributed", source="ORDO:1993/ntbt"}
xref: MESH:C536135 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:155145 {source="ORDO:1993/e", source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439"}
xref: Orphanet:1993 {source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"}
xref: SCTID:722201004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1835087 {source="ORDO:1993/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"}
is_a: MONDO:0015335 {source="Orphanet:1993"} ! orofacial clefting syndrome
is_a: MONDO:0016643 {source="Orphanet:1993", source="linkedlifedata"} ! frontonasal dysplasia
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/mesh/C536135
property_value: exactMatch http://identifiers.org/omim/155145
property_value: exactMatch http://identifiers.org/snomedct/722201004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835087
property_value: exactMatch Orphanet:1993
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa xsd:anyURI {source="GARD:0003439"}

[Term]
id: MONDO:0007957
name: mediosternal depigmentation line
synonym: "mediosternal depigmentation line" EXACT [OMIM:155200]
xref: OMIM:155200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835085
property_value: exactMatch http://identifiers.org/omim/155200

[Term]
id: MONDO:0007958
name: familial medullary thyroid carcinoma
def: "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_clinical_subtype {source="Orphanet:99361"}
synonym: "familial MTC" EXACT [Orphanet:99361]
synonym: "Fmtc" RELATED [OMIM:155240]
synonym: "hereditary medullary thyroid gland carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thyroid medullary carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "MTC" RELATED [MONDO:Lexical, OMIM:155240]
synonym: "Mtc1" RELATED [OMIM:155240]
synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547]
synonym: "thyroid carcinoma, familial medullary" RELATED [MONDO:Lexical, OMIM:155240]
synonym: "thyroid carcinoma, familial medullary; MTC" RELATED [OMIM:155240]
xref: DOID:0050547 {source="MONDO:equivalentTo"}
xref: ICD10:C73 {source="ORDO:99361/attributed", source="ORDO:99361/ntbt", source="Orphanet:99361"}
xref: MESH:C536911 {source="MONDO:equivalentTo", source="ORDO:99361/e", source="Orphanet:99361"}
xref: OMIM:155240 {source="MONDO:equivalentTo", source="ORDO:99361/e", source="DOID:0050547", source="Orphanet:99361"}
xref: Orphanet:99361 {source="OMIM:155240", source="MONDO:equivalentTo"}
xref: UMLS:C1833921 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:155240", source="MONDO:equivalentTo", source="ORDO:99361/e", source="Orphanet:99361"}
is_a: MONDO:0015277 {source="DOID:0050547", source="MONDO:Redundant", source="MONDOLEX:0007958"} ! medullary thyroid gland carcinoma
is_a: MONDO:0019003 {source="Orphanet:99361"} ! multiple endocrine neoplasia type 2
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
intersection_of: MONDO:0015277 ! medullary thyroid gland carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:0050547
property_value: exactMatch http://identifiers.org/mesh/C536911
property_value: exactMatch http://identifiers.org/omim/155240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833921
property_value: exactMatch Orphanet:99361

[Term]
id: MONDO:0007959
name: medulloblastoma
def: "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." [NCIT:C3222]
subset: gard_rare {source="GARD:0007005"}
subset: ordo_disease {source="Orphanet:616"}
synonym: "brain medulloblastoma" EXACT [DOID:0050902]
synonym: "cerebellar medulloblastoma" RELATED [DOID:0060104]
synonym: "cerebellum embryonal neoplasm" EXACT [MONDO:patterns/location]
synonym: "CNS PNET" RELATED [DOID:0050902, NCIT:C5398]
synonym: "CPNET" RELATED [DOID:0050902]
synonym: "infratentorial primitive neuroectodermal tumor" RELATED [DOID:0050902]
synonym: "localized primitive neuroectodermal tumor" RELATED [DOID:0050902]
synonym: "MDB" RELATED [MONDO:Lexical, OMIM:155255]
synonym: "medulloblastoma" EXACT [MONDO:Lexical, NCIT:C3222, OMIM:155255]
synonym: "medulloblastoma with extensive nodularity" RELATED [OMIM:155255]
synonym: "medulloblastoma, Desmoplastic" RELATED [OMIM:155255]
synonym: "medulloblastoma, malignant" EXACT [NCIT:C3222]
synonym: "medulloblastoma; MDB" RELATED [OMIM:155255]
synonym: "Medulloblastomas" EXACT [NCIT:C3222]
xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo"}
xref: DOID:0060104 {source="MONDO:equivalentTo"}
xref: EFO:0002939 {source="MONDO:equivalentTo"}
xref: GARD:0007005 {source="MONDO:equivalentTo"}
xref: ICD10:C71.6 {source="ORDO:616/ntbt", source="Orphanet:616"}
xref: ICDO:9470/3 {source="NCIT:C3222"}
xref: MedDRA:10027107 {source="ORDO:616/e", source="Orphanet:616"}
xref: MESH:D008527 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"}
xref: NCIT:C3222 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"}
xref: OMIM:155255 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"}
xref: ONCOTREE:MBL {source="MONDO:equivalentTo"}
xref: Orphanet:616 {source="MONDO:equivalentTo", source="OMIM:155255"}
xref: SCTID:443333004 {source="MONDO:kboom-pr-1.00/0.85/13.81", source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"}
xref: UMLS:C0025149 {source="NCBI:mim2gene_medline", source="ORDO:616/e", source="MONDO:equivalentTo", source="NCIT:C3222", source="Orphanet:616", source="OMIM:155255", source="DOID:0050902"}
xref: UMLS:C1334410 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0050902"}
is_a: MONDO:0002913 {source="DOID:0060104", source="MONDO:Redundant", source="NCIT:C3222/inferred", source="OWLReasoner:2017"} ! cerebellar neoplasm
is_a: MONDO:0016708 {source="Orphanet:616"} ! embryonal tumor of neuroepithelial tissue
property_value: closeMatch http://identifiers.org/mesh/D018242
property_value: closeMatch http://identifiers.org/snomedct/189921005
property_value: closeMatch http://identifiers.org/snomedct/189925001
property_value: closeMatch http://identifiers.org/snomedct/189933000
property_value: closeMatch http://identifiers.org/snomedct/39781001
property_value: closeMatch http://identifiers.org/snomedct/55045006
property_value: closeMatch http://identifiers.org/snomedct/699028006
property_value: closeMatch http://identifiers.org/snomedct/83217000
property_value: exactMatch DOID:0050902
property_value: exactMatch DOID:0060104
property_value: exactMatch http://identifiers.org/meddra/10027107
property_value: exactMatch http://identifiers.org/mesh/D008527
property_value: exactMatch http://identifiers.org/omim/155255
property_value: exactMatch http://identifiers.org/snomedct/443333004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025149
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334410
property_value: exactMatch NCIT:C3222
property_value: exactMatch Orphanet:616
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma xsd:anyURI {source="GARD:0007005"}

[Term]
id: MONDO:0007960
name: megacystis-microcolon-intestinal hypoperistalsis syndrome
def: "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis." [Orphanet:2241]
subset: ordo_malformation_syndrome {source="Orphanet:2241"}
synonym: "Berdon syndrome" RELATED [DOID:0060610, OMIM:155310, OMIM:249210, Orphanet:2241]
synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" RELATED [GARD:0003442]
synonym: "megacystis, microcolon, hypoperistalsis syndrome" EXACT [NCIT:C98982]
synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" EXACT [NCIT:C98982]
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [DOID:0060610]
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS" RELATED [OMIM:249210]
synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" EXACT [Orphanet:2241]
synonym: "MMIH syndrome" EXACT [NCIT:C98982]
synonym: "MMIHS" EXACT [Orphanet:2241]
synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610]
xref: DOID:0060610 {source="MONDO:equivalentTo"}
xref: GARD:0003442 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q43.8 {source="DOID:0060610", source="ORDO:2241/attributed", source="ORDO:2241/ntbt", source="Orphanet:2241"}
xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"}
xref: NCIT:C98982 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: OMIM:249210 {source="MONDO:equivalentTo", source="Orphanet:2241", source="ORDO:2241/e"}
xref: Orphanet:2241 {source="OMIM:249210", source="MONDO:equivalentTo", source="DOID:0060610"}
xref: SCTID:253781004 {source="MONDO:equivalentTo"}
xref: UMLS:C1608393 {source="MONDO:equivalentTo", source="DOID:0060610", source="NCIT:C98982", source="Orphanet:2241", source="ORDO:2241/e"}
is_a: MONDO:0019721 {source="Orphanet:2241"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0021189 {source="Orphanet:2241"} ! intestinal motility disease
property_value: exactMatch DOID:0060610
property_value: exactMatch http://identifiers.org/mesh/C536138
property_value: exactMatch http://identifiers.org/omim/249210
property_value: exactMatch http://identifiers.org/snomedct/253781004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1608393
property_value: exactMatch NCIT:C98982
property_value: exactMatch Orphanet:2241

[Term]
id: MONDO:0007961
name: megalencephaly, autosomal dominant
synonym: "megalencephaly, autosomal dominant" EXACT [OMIM:155350]
xref: OMIM:155350 {source="MONDO:equivalentTo"}
xref: UMLS:C3805727 {source="OMIM:155350", source="MONDO:equivalentTo"}
is_a: MONDO:0016608 {source="ORDO:2477/btnt"} ! megalencephaly (disease)
property_value: exactMatch http://identifiers.org/omim/155350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805727

[Term]
id: MONDO:0007962
name: Megalodactyly
def: "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." [NCIT:C48900]
synonym: "macrodactyly" RELATED [OMIM:155500]
synonym: "Megalodactyly" EXACT [OMIM:155500]
xref: MESH:C562546 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C48900 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.04"}
xref: OMIM:155500 {source="MONDO:equivalentTo"}
xref: SCTID:48449000 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265552
property_value: exactMatch http://identifiers.org/mesh/C562546
property_value: exactMatch http://identifiers.org/omim/155500
property_value: exactMatch http://identifiers.org/snomedct/48449000
property_value: exactMatch NCIT:C48900

[Term]
id: MONDO:0007963
name: melanoma, cutaneous malignant, susceptibility to, 1
subset: predisposition
synonym: "B-K Mole syndrome" RELATED [OMIM:155600]
synonym: "CMM1" RELATED [MONDO:Lexical, OMIM:155600]
synonym: "dysplastic Nevus syndrome, hereditary" RELATED [OMIM:155600]
synonym: "familial atypical Mole-malignant melanoma syndrome" RELATED [OMIM:155600]
synonym: "melanoma, cutaneous malignant" RELATED [OMIM:155600]
synonym: "melanoma, cutaneous malignant, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:155600]
synonym: "melanoma, cutaneous malignant, susceptibility to, 1; CMM1" RELATED [OMIM:155600]
synonym: "melanoma, familial" RELATED [OMIM:155600]
synonym: "melanoma, malignant" RELATED [OMIM:155600]
xref: OMIM:155600 {source="MONDO:equivalentTo"}
xref: SCTID:254819008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.30/0.72"}
is_a: MONDO:0018453 {source="ORDO:404560/btnt"} ! familial atypical multiple mole melanoma syndrome
is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:155600"} ! familial cutaneous melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835047
property_value: exactMatch http://identifiers.org/omim/155600
property_value: exactMatch http://identifiers.org/snomedct/254819008

[Term]
id: MONDO:0007964
name: dysplastic nevus syndrome
def: "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" [MESH:D004416]
subset: predisposition
synonym: "Atypical Mole syndrome" EXACT [NCIT:C7584]
synonym: "B-K Mole syndrome" EXACT [NCIT:C7584]
synonym: "CMM2" RELATED [MONDO:Lexical, OMIM:155601]
synonym: "familial dysplastic nevi" EXACT [NCIT:C7584]
synonym: "melanoma, cutaneous malignant, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:155601]
synonym: "melanoma, cutaneous malignant, susceptibility to, 2; CMM2" RELATED [OMIM:155601]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:155601]
synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [OMIM:155601]
xref: DOID:10041 {source="MONDO:equivalentTo"}
xref: EFO:0004199 {source="MONDO:equivalentTo"}
xref: MESH:D004416 {source="MONDO:equivalentTo", source="DOID:10041"}
xref: NCIT:C7584 {source="MONDO:equivalentTo"}
xref: OMIM:155601 {source="MONDO:equivalentTo", source="DOID:10041"}
is_a: MONDO:0000426 {source="DOID:10041", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0020573 {source="OMIM:155601"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="OMIM", source="OMIM:155601"} ! familial cutaneous melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205747
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835044
property_value: exactMatch DOID:10041
property_value: exactMatch http://identifiers.org/mesh/D004416
property_value: exactMatch http://identifiers.org/omim/155601
property_value: exactMatch NCIT:C7584

[Term]
id: MONDO:0007965
name: melanoma, malignant familial intraocular
synonym: "melanoma, malignant familial intraocular" EXACT [OMIM:155700]
xref: MESH:C563596 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:155700 {source="MONDO:equivalentTo"}
xref: UMLS:C1835043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155700"}
is_a: MONDO:0018961 {source="ORDO:618/btnt"} ! familial melanoma
property_value: exactMatch http://identifiers.org/mesh/C563596
property_value: exactMatch http://identifiers.org/omim/155700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835043

[Term]
id: MONDO:0007966
name: susceptibility to uveal melanoma
subset: predisposition
synonym: "melanoma, uveal" RELATED [OMIM:155720]
xref: OMIM:155720 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0006486 ! uveal melanoma
relationship: predisposes_towards MONDO:0006486 ! uveal melanoma
property_value: exactMatch http://identifiers.org/omim/155720

[Term]
id: MONDO:0007967
name: melanoma and neural system tumor syndrome
def: "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term)." [Orphanet:252206]
subset: ordo_disease {source="Orphanet:252206"}
synonym: "melanoma and neural system tumor syndrome" EXACT [OMIM:155755]
synonym: "melanoma astrocytoma syndrome" RELATED [GARD:0008468]
synonym: "melanoma-astrocytoma syndrome" EXACT [OMIM:155755, Orphanet:252206]
xref: GARD:0008468 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536149 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:155755 {source="MONDO:equivalentTo", source="Orphanet:252206", source="ORDO:252206/e"}
xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"}
xref: SCTID:717968005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1835042 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:252206", source="ORDO:252206/e", source="OMIM:155755"}
is_a: MONDO:0015356 {source="Orphanet:252206", source="linkedlifedata"} ! hereditary neoplastic syndrome
is_a: MONDO:0016756 {source="Orphanet:252206"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: disease_has_feature MONDO:0005105 {source="MESH:C536149"} ! melanoma (disease)
property_value: exactMatch http://identifiers.org/mesh/C536149
property_value: exactMatch http://identifiers.org/omim/155755
property_value: exactMatch http://identifiers.org/snomedct/717968005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835042
property_value: exactMatch Orphanet:252206

[Term]
id: MONDO:0007968
name: melanoma tumor antigen Gp90
synonym: "Class 1 unique tumor antigen of melanoma" RELATED [OMIM:155770]
synonym: "melanoma tumor antigen Gp90" EXACT [OMIM:155770]
xref: OMIM:155770 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835040
property_value: exactMatch http://identifiers.org/omim/155770

[Term]
id: MONDO:0007969
name: Melkersson-Rosenthal syndrome
def: "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." [Orphanet:2483]
subset: gard_rare {source="GARD:0007010"}
subset: ordo_malformation_syndrome {source="Orphanet:2483"}
synonym: "cheilitis Granulomatosa" RELATED [GARD:0007010]
synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [DOID:1761]
synonym: "Melkersson syndrome" RELATED [OMIM:155900]
synonym: "Melkersson's syndrome" EXACT [DOID:1761, MTHICD9_2006:351.8]
synonym: "Melkersson-Rosenthal syndrome" EXACT [OMIM:155900]
synonym: "Mros" RELATED [OMIM:155900]
synonym: "MRS" RELATED [GARD:0007010]
xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"}
xref: EFO:1001039 {source="MONDO:equivalentTo"}
xref: GARD:0007010 {source="MONDO:equivalentTo"}
xref: ICD10:G51.2 {source="DOID:1761", source="Orphanet:2483", source="ORDO:2483/e"}
xref: MedDRA:10027166 {source="EFO:1001039", source="Orphanet:2483", source="ORDO:2483/e"}
xref: MESH:D008556 {source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="MONDO:ontobio", source="Orphanet:2483", source="ORDO:2483/e"}
xref: NCIT:C84886 {source="DOID:1761", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001039"}
xref: OMIM:155900 {source="DOID:1761", source="MONDO:equivalentTo", source="Orphanet:2483", source="ORDO:2483/e"}
xref: Orphanet:2483 {source="MONDO:equivalentTo", source="OMIM:155900"}
xref: UMLS:C0025235 {source="NCIT:C84886", source="DOID:1761", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155900", source="Orphanet:2483", source="ORDO:2483/e"}
is_a: MONDO:0002098 {source="DOID:1761", source="MESH:D008556"} ! facial nerve disease
is_a: MONDO:0002102 {source="DOID:1761"} ! cheilitis
is_a: MONDO:0002254 {source="MONDOLEX:0007969", source="NCIT:C84886"} ! syndromic disease
is_a: MONDO:0005492 {source="Orphanet:2483"} ! urticaria (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/215617000
property_value: closeMatch http://identifiers.org/snomedct/2511001
property_value: closeMatch http://identifiers.org/snomedct/37770007
property_value: exactMatch DOID:1761
property_value: exactMatch http://identifiers.org/meddra/10027166
property_value: exactMatch http://identifiers.org/mesh/D008556
property_value: exactMatch http://identifiers.org/omim/155900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025235
property_value: exactMatch NCIT:C84886
property_value: exactMatch Orphanet:2483
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome xsd:anyURI {source="GARD:0007010"}

[Term]
id: MONDO:0007970
name: melorheostosis
def: "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." [Orphanet:2485]
subset: gard_rare {source="GARD:0009474"}
subset: ordo_malformation_syndrome {source="Orphanet:2485"}
synonym: "Mel" RELATED [OMIM:155950]
synonym: "melorheostosis, isolated" RELATED [OMIM:155950]
xref: DOID:4253 {source="MONDO:equivalentTo"}
xref: GARD:0009474 {source="MONDO:equivalentTo"}
xref: ICD10:M85.8 {source="Orphanet:2485", source="ORDO:2485/ntbt", source="ORDO:2485/index"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050284 {source="Orphanet:2485", source="ORDO:2485/e"}
xref: MESH:D008557 {source="Orphanet:2485", source="ORDO:2485/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4253"}
xref: NCIT:C84887 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4253"}
xref: OMIM:155950 {source="Orphanet:2485", source="ORDO:2485/e", source="MONDO:equivalentTo", source="DOID:4253"}
xref: Orphanet:2485 {source="MONDO:equivalentTo", source="OMIM:155950"}
xref: SCTID:44697002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4253"}
xref: UMLS:C0025239 {source="NCIT:C84887", source="Orphanet:2485", source="ORDO:2485/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4253"}
is_a: MONDO:0017198 {source="Orphanet:2485"} ! osteopetrosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/240173003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149631
property_value: exactMatch DOID:4253
property_value: exactMatch http://identifiers.org/meddra/10050284
property_value: exactMatch http://identifiers.org/mesh/D008557
property_value: exactMatch http://identifiers.org/omim/155950
property_value: exactMatch http://identifiers.org/snomedct/44697002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025239
property_value: exactMatch NCIT:C84887
property_value: exactMatch Orphanet:2485
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9474/melorheostosis xsd:anyURI {source="GARD:0009474"}

[Term]
id: MONDO:0007971
name: delayed membranous cranial ossification
def: "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." [Orphanet:3034]
subset: gard_rare {source="GARD:0001727"}
subset: ordo_malformation_syndrome {source="Orphanet:3034"}
synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034]
synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980]
xref: GARD:0001727 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.8 {source="Orphanet:3034", source="ORDO:3034/attributed", source="ORDO:3034/ntbt"}
xref: MESH:C563592 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="ORDO:3034/e"}
xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"}
xref: SCTID:715524004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1835030 {source="Orphanet:3034", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155980"}
is_a: MONDO:0019709 {source="Orphanet:3034"} ! cleidocranial dysplasia and isolated cranial ossification defect
is_a: MONDO:0020018 {source="Orphanet:3034"} ! cranial malformation
property_value: exactMatch http://identifiers.org/mesh/C563592
property_value: exactMatch http://identifiers.org/omim/155980
property_value: exactMatch http://identifiers.org/snomedct/715524004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835030
property_value: exactMatch Orphanet:3034
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification xsd:anyURI {source="GARD:0001727"}

[Term]
id: MONDO:0007972
name: Meniere disease
def: "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." [MESH:D008575]
synonym: "Meniere disease" EXACT [DOID:9849, OMIM:156000]
synonym: "Meniere's disease" RELATED [DOID:9849]
synonym: "Mnire's vertigo" EXACT [DOID:9849]
synonym: "otogenic vertigo" EXACT [DOID:9849, MTHICD9_2006:386.19]
xref: DOID:9849 {source="EFO:0006862", source="MONDO:equivalentTo"}
xref: EFO:0006862 {source="MONDO:equivalentTo"}
xref: ICD10:H81.0 {source="DOID:9849"}
xref: ICD10:H81.09 {source="DOID:9849"}
xref: ICD9:386.0 {source="DOID:9849"}
xref: ICD9:386.00 {source="DOID:9849", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008575 {source="EFO:0006862", source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156000 {source="DOID:9849", source="MONDO:equivalentTo"}
xref: SCTID:13445001 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="DOID:9849", source="MONDO:equivalentTo"}
xref: UMLS:C0025281 {source="OMIM:156000", source="NCBI:mim2gene_medline", source="DOID:9849", source="MONDO:equivalentTo"}
is_a: MONDO:0006744 {source="DOID:9849", source="MESH:D008575"} ! endolymphatic hydrops
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch http://identifiers.org/snomedct/155235002
property_value: closeMatch http://identifiers.org/snomedct/194346003
property_value: closeMatch http://identifiers.org/snomedct/194347007
property_value: closeMatch http://identifiers.org/snomedct/194352002
property_value: closeMatch Orphanet:45360
property_value: exactMatch DOID:9849
property_value: exactMatch http://identifiers.org/mesh/D008575
property_value: exactMatch http://identifiers.org/omim/156000
property_value: exactMatch http://identifiers.org/snomedct/13445001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025281

[Term]
id: MONDO:0007973
name: mental and growth retardation with amblyopia
synonym: "mental and growth retardation with amblyopia" EXACT [OMIM:156190]
xref: MESH:C563591 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156190 {source="MONDO:equivalentTo"}
xref: UMLS:C1835028 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156190"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0001020 ! amblyopia (disease)
property_value: exactMatch http://identifiers.org/mesh/C563591
property_value: exactMatch http://identifiers.org/omim/156190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835028

[Term]
id: MONDO:0007974
name: intellectual disability, autosomal dominant 1
def: "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." [NCIT:C141424]
synonym: "autosomal dominant mental retardation 1" EXACT [DOID:0070031]
synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [DOID:0070031]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5" EXACT [MONDO:design_pattern]
synonym: "chromosome 2Q23.1 deletion syndrome" RELATED [OMIM:156200]
synonym: "MBD5 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:156200]
synonym: "mental retardation, autosomal dominant 1; MRD1" RELATED [OMIM:156200]
synonym: "mental retardation, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:156200]
synonym: "MRD1" EXACT [DOID:0070031, MONDO:Lexical, OMIM:156200]
xref: DOID:0070031 {source="MONDO:equivalentTo"}
xref: MESH:C566947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C141424 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:156200 {source="DOID:0070031", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:156200", source="DOID:0070031", source="MONDO:Redundant", source="OMIM:156200"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969562
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277090
property_value: exactMatch DOID:0070031
property_value: exactMatch http://identifiers.org/mesh/C566947
property_value: exactMatch http://identifiers.org/omim/156200
property_value: exactMatch NCIT:C141424

[Term]
id: MONDO:0007975
name: meralgia paraesthetica, familial
synonym: "meralgia paraesthetica, familial" EXACT [OMIM:156220]
xref: MESH:C563590 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156220 {source="MONDO:equivalentTo"}
xref: UMLS:C1835026 {source="OMIM:156220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0023757 ! meralgia paresthetica
property_value: exactMatch http://identifiers.org/mesh/C563590
property_value: exactMatch http://identifiers.org/omim/156220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835026

[Term]
id: MONDO:0007976
name: mesomelic dwarfism of hypoplastic tibia and radius type
subset: gard_rare {source="GARD:0007313"}
synonym: "mesomelic dwarfism of hypoplastic tibia and radius type" EXACT [OMIM:156230]
xref: GARD:0007313 {source="MONDO:equivalentTo"}
xref: MESH:C563589 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156230 {source="MONDO:equivalentTo"}
xref: UMLS:C1835010 {source="NCBI:mim2gene_medline", source="OMIM:156230", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563589/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563589
property_value: exactMatch http://identifiers.org/omim/156230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type xsd:anyURI {source="GARD:0007313"}

[Term]
id: MONDO:0007977
name: mesomelic dysplasia, Kantaputra type
def: "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." [Orphanet:1836]
subset: gard_rare {source="GARD:0003074"}
subset: ordo_malformation_syndrome {source="Orphanet:1836"}
synonym: "Kantaputra mesomelic dysplasia" EXACT [Orphanet:1836]
synonym: "MDK" EXACT [Orphanet:1836]
synonym: "Mdk" RELATED [OMIM:156232]
synonym: "mesomelic dysplasia Kantaputra type" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia Thai type" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia with ankle carpal and tarsal synostosis" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED [OMIM:156232]
synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232]
synonym: "mesomelic dysplasia, Kantaputra type; MMDK" RELATED [OMIM:156232]
synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836]
synonym: "MMDK" RELATED [MONDO:Lexical, OMIM:156232]
xref: GARD:0003074 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:1836/attributed", source="ORDO:1836/ntbt", source="Orphanet:1836"}
xref: MESH:C535547 {source="MONDO:equivalentTo", source="ORDO:1836/e", source="MONDO:ontobio", source="Orphanet:1836"}
xref: OMIM:156232 {source="MONDO:equivalentTo", source="ORDO:1836/e", source="Orphanet:1836"}
xref: Orphanet:1836 {source="MONDO:equivalentTo", source="OMIM:156232"}
xref: SCTID:719397009 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
is_a: MONDO:0019697 {source="Orphanet:1836"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535547
property_value: exactMatch http://identifiers.org/omim/156232
property_value: exactMatch http://identifiers.org/snomedct/719397009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835009
property_value: exactMatch Orphanet:1836
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type xsd:anyURI {source="GARD:0003074"}

[Term]
id: MONDO:0007978
name: obsolete malignant mesothelioma
is_obsolete: true
replaced_by: MONDO:0006292

[Term]
id: MONDO:0007979
name: metachondromatosis
def: "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." [Orphanet:2499]
subset: gard_rare {source="GARD:0003560"}
subset: ordo_malformation_syndrome {source="Orphanet:2499"}
synonym: "metachondromatosis" EXACT [MONDO:Lexical, OMIM:156250]
synonym: "METACHONDROMATOSIS; METCDS" RELATED [OMIM:156250]
synonym: "METCDS" RELATED [MONDO:Lexical, OMIM:156250]
xref: GARD:0003560 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.4 {source="Orphanet:2499", source="ORDO:2499/attributed", source="ORDO:2499/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562938 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156250 {source="ORDO:2499/e", source="Orphanet:2499", source="MONDO:equivalentTo"}
xref: Orphanet:2499 {source="OMIM:156250", source="MONDO:equivalentTo"}
xref: SCTID:205481009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0410530 {source="ORDO:2499/e", source="OMIM:156250", source="NCBI:mim2gene_medline", source="Orphanet:2499", source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:2499"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C562938
property_value: exactMatch http://identifiers.org/omim/156250
property_value: exactMatch http://identifiers.org/snomedct/205481009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410530
property_value: exactMatch Orphanet:2499
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis xsd:anyURI {source="GARD:0003560"}

[Term]
id: MONDO:0007980
name: metachromasia of fibroblasts
synonym: "metachromasia of fibroblasts" EXACT [OMIM:156300]
xref: OMIM:156300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835008
property_value: exactMatch http://identifiers.org/omim/156300

[Term]
id: MONDO:0007981
name: metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a
synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a" EXACT [OMIM:156310]
synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a" EXACT [MONDORULE:1, OMIM:156310]
xref: MESH:C563587 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156310 {source="MONDO:equivalentTo"}
xref: UMLS:C1835007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156310"}
is_a: MONDO:0018868 {source="MESH:C563587", source="MONDOLEX:0007981", source="ORDO:512/btnt"} ! metachromatic leukodystrophy
property_value: exactMatch http://identifiers.org/mesh/C563587
property_value: exactMatch http://identifiers.org/omim/156310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835007

[Term]
id: MONDO:0007982
name: metaphyseal chondrodysplasia, Jansen type
alt_id: MONDO:0000842
def: "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." [Orphanet:33067]
subset: gard_rare
subset: ordo_disease {source="Orphanet:33067"}
synonym: "Jansen disease" EXACT [DOID:0080020]
synonym: "Jansen metaphyseal chondrodysplasia" EXACT [DOID:0080020]
synonym: "Jansen metaphyseal dysostosis" EXACT [DOID:0080020]
synonym: "Jansen type metaphyseal chondrodysplasia" RELATED [GARD:0000079]
synonym: "Jansen's metaphyseal chondrodysplasia" RELATED [DOID:0080020]
synonym: "metaphyseal chondrodysplasia murk Jansen type" RELATED [GARD:0000079]
synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [OMIM:156400]
synonym: "metaphyseal chondrodysplasia, murk Jansen type" RELATED [OMIM:156400]
synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079]
xref: DOID:0080020 {source="MONDO:equivalentTo"}
xref: GARD:0000079 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.5 {source="ORDO:33067/attributed", source="ORDO:33067/ntbt", source="Orphanet:33067"}
xref: MESH:C537564 {source="MONDO:equivalentTo", source="ORDO:33067/e", source="Orphanet:33067"}
xref: NCIT:C131868 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:156400 {source="GARD:0000079", source="MONDO:equivalentTo", source="ORDO:33067/e", source="Orphanet:33067"}
xref: Orphanet:33067 {source="GARD:0000079", source="MONDO:equivalentTo", source="OMIM:156400"}
xref: SCTID:24629003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265295 {source="GARD:0000079", source="NCIT:C131868", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156400", source="ORDO:33067/e", source="Orphanet:33067"}
is_a: MONDO:0009943 {source="DOID:0080020"} ! Pyle disease
is_a: MONDO:0019693 {source="Orphanet:33067"} ! multiple metaphyseal dysplasia
property_value: exactMatch DOID:0080020
property_value: exactMatch http://identifiers.org/mesh/C537564
property_value: exactMatch http://identifiers.org/omim/156400
property_value: exactMatch http://identifiers.org/snomedct/24629003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265295
property_value: exactMatch NCIT:C131868
property_value: exactMatch Orphanet:33067

[Term]
id: MONDO:0007983
name: Schmid metaphyseal chondrodysplasia
def: "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." [Orphanet:174]
subset: ordo_disease {source="Orphanet:174"}
synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [DOID:0080021]
synonym: "MCDS" RELATED [MONDO:Lexical, OMIM:156500]
synonym: "metaphyseal chondrodysplasia Schmid type" RELATED [GARD:0007029]
synonym: "metaphyseal chondrodysplasia, Schmid type" RELATED [MONDO:Lexical, OMIM:156500]
synonym: "metaphyseal chondrodysplasia, Schmid type; MCDS" RELATED [OMIM:156500]
synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021]
synonym: "spondylometaphyseal dysplasia, Japanese type" RELATED [OMIM:156500]
xref: DOID:0080021 {source="MONDO:equivalentTo"}
xref: GARD:0007029 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.5 {source="ORDO:174/attributed", source="ORDO:174/ntbt", source="Orphanet:174"}
xref: MESH:C537352 {source="MONDO:equivalentTo", source="ORDO:174/e", source="MONDO:ontobio", source="Orphanet:174"}
xref: OMIM:156500 {source="DOID:0080021", source="MONDO:equivalentTo", source="ORDO:174/e", source="Orphanet:174"}
xref: Orphanet:174 {source="MONDO:equivalentTo", source="OMIM:156500"}
xref: SCTID:29248006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0000138 {source="DC-OMIM:156500", source="linkedlifedata"} ! metaphyseal chondrodysplasia (disease)
is_a: MONDO:0019693 {source="Orphanet:174"} ! multiple metaphyseal dysplasia
property_value: exactMatch DOID:0080021
property_value: exactMatch http://identifiers.org/mesh/C537352
property_value: exactMatch http://identifiers.org/omim/156500
property_value: exactMatch http://identifiers.org/snomedct/29248006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265289
property_value: exactMatch Orphanet:174

[Term]
id: MONDO:0007984
name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
def: "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." [Orphanet:2504]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2504"}
synonym: "MDMHB" RELATED [MONDO:Lexical, OMIM:156510]
synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GARD:0003568]
synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510]
synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; MDMHB" RELATED [OMIM:156510]
xref: GARD:0003568 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:2504/attributed", source="ORDO:2504/ntbt", source="Orphanet:2504"}
xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="ORDO:2504/e"}
xref: Orphanet:2504 {source="GARD:0003568", source="MONDO:equivalentTo", source="OMIM:156510"}
xref: UMLS:CN201864 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019693 {source="Orphanet:2504"} ! multiple metaphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834969
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549874
property_value: exactMatch http://identifiers.org/omim/156510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201864
property_value: exactMatch Orphanet:2504
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly xsd:anyURI {source="GARD:0003568"}

[Term]
id: MONDO:0007985
name: metatarsus varus, type 1
synonym: "metatarsus varus, type I" RELATED [OMIM:156520]
xref: MESH:C563585 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156520 {source="MONDO:equivalentTo"}
xref: UMLS:C1834968 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156520"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563585
property_value: exactMatch http://identifiers.org/omim/156520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834968

[Term]
id: MONDO:0007986
name: metatropic dysplasia
def: "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." [Orphanet:2635]
subset: gard_rare {source="GARD:0003571"}
subset: ordo_disease {source="Orphanet:2635"}
synonym: "Metatropic dwarfism" EXACT [OMIM:156530, Orphanet:2635]
synonym: "metatropic dysplasia" EXACT [OMIM:156530]
synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571]
xref: GARD:0003571 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:2635/attributed", source="ORDO:2635/ntbt", source="Orphanet:2635"}
xref: MESH:C537356 {source="MONDO:equivalentTo", source="ORDO:2635/e", source="Orphanet:2635", source="MONDO:ontobio"}
xref: OMIM:156530 {source="MONDO:equivalentTo", source="ORDO:2635/e", source="Orphanet:2635"}
xref: Orphanet:2635 {source="MONDO:equivalentTo", source="OMIM:156530"}
xref: SCTID:22764001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016761 {source="Orphanet:2635"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018240 {source="Orphanet:2635"} ! TRPV4-related bone disorder
property_value: exactMatch http://identifiers.org/mesh/C537356
property_value: exactMatch http://identifiers.org/omim/156530
property_value: exactMatch http://identifiers.org/snomedct/22764001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265281
property_value: exactMatch Orphanet:2635
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia xsd:anyURI {source="GARD:0003571"}

[Term]
id: MONDO:0007987
name: Kniest dysplasia
def: "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." [Orphanet:485]
subset: gard_rare {source="GARD:0006841"}
subset: ordo_disease {source="Orphanet:485"}
synonym: "Kniest dysplasia" EXACT [OMIM:156550]
xref: DOID:0080045 {source="MONDO:equivalentTo"}
xref: GARD:0006841 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:485/attributed", source="ORDO:485/ntbt", source="Orphanet:485"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537207 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:485/e", source="Orphanet:485"}
xref: NCIT:C125594 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:156550 {source="MONDO:equivalentTo", source="ORDO:485/e", source="Orphanet:485"}
xref: Orphanet:485 {source="OMIM:156550", source="MONDO:equivalentTo"}
xref: SCTID:53974002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265279 {source="OMIM:156550", source="NCBI:mim2gene_medline", source="NCIT:C125594", source="MONDO:equivalentTo", source="ORDO:485/e", source="Orphanet:485"}
is_a: MONDO:0015318 {source="Orphanet:485"} ! Pierre Robin syndrome associated with collagen disease
is_a: MONDO:0016761 {source="Orphanet:485"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:485"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch DOID:0080045
property_value: exactMatch http://identifiers.org/mesh/C537207
property_value: exactMatch http://identifiers.org/omim/156550
property_value: exactMatch http://identifiers.org/snomedct/53974002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265279
property_value: exactMatch NCIT:C125594
property_value: exactMatch Orphanet:485
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia xsd:anyURI {source="GARD:0006841"}

[Term]
id: MONDO:0007988
name: autosomal dominant primary microcephaly
def: "Autosomal dominant form of microcephaly (disease)." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:0003605"}
subset: ordo_etiological_subtype {source="Orphanet:2514"}
synonym: "autosomal dominant microcephaly" RELATED [DOID:14725, GARD:0003605]
synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605]
synonym: "microcephaly (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "microcephaly autosomal dominant" RELATED [GARD:0003605]
synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:0003605]
synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580]
xref: DOID:14725 {source="MONDO:equivalentTo"}
xref: GARD:0003605 {source="MONDO:equivalentTo"}
xref: ICD10:Q02 {source="ORDO:2514/attributed", source="ORDO:2514/ntbt", source="Orphanet:2514"}
xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="ORDO:2514/e", source="Orphanet:2514", source="MONDO:ontobio"}
xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="ORDO:2514/e", source="Orphanet:2514"}
xref: Orphanet:2514 {source="OMIM:156580", source="MONDO:equivalentTo"}
xref: UMLS:C0220693 {source="DOID:14725", source="OMIM:156580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2514/e", source="Orphanet:2514"}
is_a: MONDO:0000426 {source="DOID:14725", source="MONDO:Entailed", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0016056 {source="Orphanet:2514"} ! isolated congenital microcephaly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2514"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:14725
property_value: exactMatch http://identifiers.org/mesh/C537323
property_value: exactMatch http://identifiers.org/omim/156580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220693
property_value: exactMatch Orphanet:2514
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant xsd:anyURI {source="GARD:0003605"}

[Term]
id: MONDO:0007989
name: congenital microcoria
def: "2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." [Orphanet:566]
subset: gard_rare {source="GARD:0003635"}
subset: ordo_malformation_syndrome {source="Orphanet:566"}
synonym: "chromosome 13Q32 deletion syndrome" RELATED [OMIM:156600]
synonym: "congenital miosis" EXACT [Orphanet:566]
synonym: "Mcor" RELATED [OMIM:156600]
synonym: "microcoria, congenital" RELATED [OMIM:156600]
synonym: "miosis, congenital" RELATED [OMIM:156600]
synonym: "pinhole pupils" RELATED [GARD:0003635]
xref: GARD:0003635 {source="MONDO:equivalentTo"}
xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:566/e"}
xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="ORDO:566/e"}
xref: Orphanet:566 {source="MONDO:equivalentTo", source="OMIM:156600"}
xref: SCTID:400962005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0011119 {source="Orphanet:566"} ! iridogoniodysgenesis
property_value: exactMatch http://identifiers.org/mesh/C537550
property_value: exactMatch http://identifiers.org/omim/156600
property_value: exactMatch http://identifiers.org/snomedct/400962005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1303009
property_value: exactMatch Orphanet:566
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital xsd:anyURI {source="GARD:0003635"}

[Term]
id: MONDO:0007990
name: multiple benign circumferential skin creases on limbs
subset: ordo_disease {source="Orphanet:2505"}
synonym: "CCSF" EXACT [Orphanet:2505]
synonym: "circumferential skin creases, Kunze type" EXACT [Orphanet:2505]
synonym: "congenital circumferential skin folds" EXACT [Orphanet:2505]
synonym: "CSCSC" EXACT [MONDO:cjm]
synonym: "Kunze Riehm syndrome" RELATED [GARD:0003589]
synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505]
synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610]
synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610]
xref: GARD:0003589 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="ORDO:2505/attributed", source="ORDO:2505/ntbt", source="Orphanet:2505"}
xref: MESH:C537575 {source="MONDO:equivalentTo", source="ORDO:2505/e", source="MONDO:ontobio", source="Orphanet:2505"}
xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"}
xref: UMLS:C0473586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2505/e", source="MEDGEN:kboom-pr92-c96", source="OMIM:156610", source="Orphanet:2505"}
is_a: MONDO:0019299 {source="Orphanet:2505"} ! unclassified genetic skin disorder
property_value: exactMatch http://identifiers.org/mesh/C537575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473586
property_value: exactMatch Orphanet:2505

[Term]
id: MONDO:0007991
name: microcephaly-deafness-intellectual disability syndrome
def: "Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." [Orphanet:2533]
subset: ordo_malformation_syndrome {source="Orphanet:2533"}
synonym: "Kawashima Tsuji syndrome" RELATED [GARD:0000230]
synonym: "Kawashima-Tsuji syndrome" EXACT [Orphanet:2533]
synonym: "microcephaly deafness syndrome" RELATED [GARD:0000230]
synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620]
synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED [GARD:0000230]
xref: GARD:0000230 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2533", source="ORDO:2533/attributed", source="ORDO:2533/ntbt"}
xref: MESH:C537326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156620 {source="Orphanet:2533", source="ORDO:2533/e", source="MONDO:equivalentTo"}
xref: Orphanet:2533 {source="MONDO:equivalentTo", source="OMIM:156620"}
xref: SCTID:716112005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0796062 {source="Orphanet:2533", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156620"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2533", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:2533"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537326
property_value: exactMatch http://identifiers.org/omim/156620
property_value: exactMatch http://identifiers.org/snomedct/716112005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796062
property_value: exactMatch Orphanet:2533

[Term]
id: MONDO:0007992
name: microcornea-glaucoma-absent frontal sinuses syndrome
def: "Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." [Orphanet:2536]
subset: ordo_malformation_syndrome {source="Orphanet:2536"}
synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637]
synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700]
xref: GARD:0003637 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q15.8 {source="ORDO:2536/attributed", source="ORDO:2536/ntbt", source="Orphanet:2536"}
xref: MESH:C537552 {source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536", source="MONDO:ontobio"}
xref: OMIM:156700 {source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536"}
xref: Orphanet:2536 {source="MONDO:equivalentTo", source="OMIM:156700"}
xref: UMLS:C1834935 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536", source="OMIM:156700"}
is_a: MONDO:0015218 {source="Orphanet:2536"} ! syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C537552
property_value: exactMatch http://identifiers.org/omim/156700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834935
property_value: exactMatch Orphanet:2536

[Term]
id: MONDO:0007993
name: microgastria-limb reduction defect syndrome
def: "This syndrome is characterised by the association of microgastria with a limb reduction defect." [Orphanet:2538]
subset: ordo_malformation_syndrome {source="Orphanet:2538"}
synonym: "congenital microgastria and limb reduction defects" RELATED [GARD:0003640]
synonym: "microgastria limb reduction defect" RELATED [GARD:0003640]
synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical, OMIM:156810]
synonym: "microgastria-limb reduction defects association; MLRD" RELATED [OMIM:156810]
synonym: "MLRD" RELATED [MONDO:Lexical, OMIM:156810]
xref: GARD:0003640 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2538/ntbt", source="Orphanet:2538"}
xref: MESH:C537554 {source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538"}
xref: OMIM:156810 {source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538"}
xref: Orphanet:2538 {source="MONDO:equivalentTo", source="OMIM:156810"}
xref: UMLS:C1834929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538", source="OMIM:156810"}
is_a: MONDO:0015160 {source="Orphanet:2538"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015210 {source="Orphanet:2538"} ! syndromic gastroduodenal malformation
property_value: exactMatch http://identifiers.org/mesh/C537554
property_value: exactMatch http://identifiers.org/omim/156810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834929
property_value: exactMatch Orphanet:2538

[Term]
id: MONDO:0007994
name: micromelic bone dysplasia with cloverleaf skull
synonym: "micromelic bone dysplasia with cloverleaf skull" EXACT [OMIM:156830]
xref: MESH:C536429 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156830 {source="MONDO:equivalentTo"}
is_a: MONDO:0008547 {source="ORDO:93274/btnt"} ! thanatophoric dysplasia type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834928
property_value: exactMatch http://identifiers.org/mesh/C536429
property_value: exactMatch http://identifiers.org/omim/156830

[Term]
id: MONDO:0007995
name: MCOPCT1
synonym: "cataract, congenital, with microphthalmia" RELATED [OMIM:156850]
synonym: "congenital cataract with microphthalmia" RELATED [GARD:0009610]
synonym: "MCOPCT1" EXACT [MONDO:Lexical, OMIM:156850]
synonym: "microphthalmia with cataract 1" RELATED [GARD:0009610]
synonym: "microphthalmia, isolated, with cataract 1" RELATED [MONDO:Lexical, OMIM:156850]
synonym: "microphthalmia, isolated, with cataract 1; MCOPCT1" RELATED [OMIM:156850]
xref: GARD:0009610 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563582 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156850 {source="MONDO:equivalentTo"}
xref: UMLS:C1834919 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156850"}
is_a: MONDO:0000169 {source="DC-OMIM:156850", source="MONDOLEX:0007995"} ! microphthalmia, isolated, with cataract
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch http://identifiers.org/mesh/C563582
property_value: exactMatch http://identifiers.org/omim/156850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834919

[Term]
id: MONDO:0007996
name: microphthalmia, isolated, with corectopia
synonym: "MCOPCR" RELATED [MONDO:Lexical, OMIM:156900]
synonym: "microphthalmia and corectopia" RELATED [OMIM:156900]
synonym: "microphthalmia with myopia and corectopia" RELATED [OMIM:156900]
synonym: "microphthalmia, isolated, with corectopia" EXACT [MONDO:Lexical, OMIM:156900]
synonym: "microphthalmia, isolated, with corectopia; MCOPCR" RELATED [OMIM:156900]
xref: MESH:C563581 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:156900 {source="MONDO:equivalentTo"}
xref: UMLS:C1834918 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563581
property_value: exactMatch http://identifiers.org/omim/156900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834918

[Term]
id: MONDO:0007997
name: microspherophakia with hernia
subset: gard_rare {source="GARD:0009462"}
synonym: "microspherophakia with hernia" EXACT [OMIM:157150]
xref: GARD:0009462 {source="MONDO:equivalentTo"}
xref: MESH:C537468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:157150 {source="MONDO:equivalentTo"}
xref: UMLS:C1834881 {source="OMIM:157150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537468
property_value: exactMatch http://identifiers.org/omim/157150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834881
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia xsd:anyURI {source="GARD:0009462"}

[Term]
id: MONDO:0007998
name: microspherophakia-metaphyseal dysplasia syndrome
def: "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." [Orphanet:2551]
subset: ordo_malformation_syndrome {source="Orphanet:2551"}
synonym: "dominantly inherited bone dysplasia with severe eye involvement" RELATED [GARD:0005481]
synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151]
synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481]
synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551]
xref: GARD:0005481 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.5 {source="Orphanet:2551", source="ORDO:2551/attributed", source="ORDO:2551/ntbt"}
xref: MESH:C536540 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:157151 {source="Orphanet:2551", source="ORDO:2551/e", source="MONDO:equivalentTo"}
xref: Orphanet:2551 {source="OMIM:157151", source="MONDO:equivalentTo"}
xref: UMLS:C1834880 {source="OMIM:157151", source="Orphanet:2551", source="ORDO:2551/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015218 {source="Orphanet:2551"} ! syndromic developmental defect of the eye
is_a: MONDO:0020235 {source="Orphanet:2551"} ! lens size anomaly
property_value: exactMatch http://identifiers.org/mesh/C536540
property_value: exactMatch http://identifiers.org/omim/157151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834880
property_value: exactMatch Orphanet:2551

[Term]
id: MONDO:0007999
name: holoprosencephaly 2
def: "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." [NCIT:C74995]
synonym: "holoprosencephaly 2" EXACT [MONDO:Lexical, OMIM:157170]
synonym: "holoprosencephaly 2; HPE2" RELATED [OMIM:157170]
synonym: "holoprosencephaly caused by mutation in SIX3" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 2" EXACT [DOID:0110872, MONDORULE:1, OMIM:157170]
synonym: "HPE2" EXACT [DOID:0110872, MONDO:Lexical, OMIM:157170]
synonym: "SIX3 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110872 {source="MONDO:equivalentTo"}
xref: MESH:C563579 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C74995 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"}
xref: OMIM:157170 {source="MONDO:equivalentTo", source="DOID:0110872"}
xref: UMLS:C1834877 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C74995", source="OMIM:157170"}
is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="MONDO:Redundant", source="NCIT:C74995", source="OMIM:157170", source="ORDO:2162/btnt"} ! holoprosencephaly
property_value: exactMatch DOID:0110872
property_value: exactMatch http://identifiers.org/mesh/C563579
property_value: exactMatch http://identifiers.org/omim/157170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834877
property_value: exactMatch NCIT:C74995

[Term]
id: MONDO:0008000
name: migraine with or without aura, susceptibility to, 1
subset: predisposition
synonym: "Mgau" RELATED [OMIM:157300]
synonym: "Mgr1" RELATED [OMIM:157300]
synonym: "migraine" RELATED [OMIM:157300]
synonym: "migraine with or without aura, susceptibility to, 1" EXACT [OMIM:157300]
synonym: "migraine with or without aura, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:157300]
xref: COHD:318736 {source="MONDO:equivalentTo"}
xref: ICD9:346.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:346.90 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:157300 {source="MONDO:equivalentTo"}
xref: SCTID:37796009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.35/0.08"}
is_a: MONDO:0005277 {source="DC-OMIM:157300", source="OMIM:157300/inferred"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149931
property_value: exactMatch http://identifiers.org/omim/157300
property_value: exactMatch http://identifiers.org/snomedct/37796009

[Term]
id: MONDO:0008001
name: milia, multiple eruptive
synonym: "MEM" RELATED [OMIM:157400]
synonym: "milia, multiple eruptive" EXACT [OMIM:157400]
synonym: "milia, multiple eruptive; MEM" RELATED [OMIM:157400]
xref: MESH:C562823 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:157400 {source="MONDO:equivalentTo"}
xref: SCTID:238749001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C0343079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:157400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562823
property_value: exactMatch http://identifiers.org/omim/157400
property_value: exactMatch http://identifiers.org/snomedct/238749001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343079

[Term]
id: MONDO:0008002
name: mirror movements 1
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "bimanual synergia" RELATED [OMIM:157600]
synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern]
synonym: "mirror movements 1" EXACT [MONDO:Lexical, OMIM:157600]
synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OMIM:157600]
synonym: "mirror movements 1; MRMV1" RELATED [OMIM:157600]
synonym: "mirror movements type 1" EXACT [MONDORULE:1, OMIM:157600]
synonym: "mirror movements, congenital" RELATED [OMIM:157600]
synonym: "MRMV1" RELATED [MONDO:Lexical, OMIM:157600]
xref: OMIM:157600 {source="MONDO:equivalentTo"}
is_a: MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="ORDO:238722/btnt"} ! familial congenital mirror movements
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834870
property_value: exactMatch http://identifiers.org/omim/157600

[Term]
id: MONDO:0008003
name: autosomal dominant progressive external ophthalmoplegia
def: "Autosomal dominant form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_dominant]
subset: ordo_disease {source="Orphanet:254892"}
synonym: "adPEO" EXACT [Orphanet:254892]
synonym: "PEOA1" RELATED [MONDO:Lexical, OMIM:157640]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640]
synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:H49.4 {source="MONDO:subClassOf", source="Orphanet:254892", source="ORDO:254892/attributed", source="ORDO:254892/ntbt"}
xref: MESH:C563575 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:254892 {source="MONDO:equivalentTo", source="OMIM:157640"}
xref: UMLS:CN202062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="DC-OMIM:157640", source="MONDOLEX:0008003", source="OMIM:157640"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016797 {source="Orphanet:254892"} ! multiple mitochondrial DNA deletion syndrome
property_value: exactMatch http://identifiers.org/mesh/C563575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202062
property_value: exactMatch Orphanet:254892

[Term]
id: MONDO:0008004
name: familial mitral valve prolapse
def: "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_morphological_anomaly {source="Orphanet:741"}
synonym: "hereditary mitral valve prolapse (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical, OMIM:157700]
synonym: "mitral valve prolapse, familial, autosomal dominant" RELATED [GARD:0003687]
synonym: "MVP" RELATED [MONDO:Lexical, OMIM:157700]
xref: GARD:0003687 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I34.1 {source="Orphanet:741", source="ORDO:741/attributed", source="ORDO:741/ntbt"}
xref: Orphanet:741 {source="MONDO:equivalentTo", source="OMIM:157700"}
xref: SCTID:233858000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.14"}
is_a: MONDO:0004910 {source="DC-OMIM:157700", source="MONDO:Redundant", source="OMIM:157700", source="linkedlifedata", source="linkedlifedata/inferred"} ! mitral valve prolapse (disease)
is_a: MONDO:0017131 {source="Orphanet:741"} ! genetic cardiac anomaly
is_a: MONDO:0019817 {source="Orphanet:741"} ! congenital mitral valve insufficiency and/or stenosis
is_a: MONDO:0042966 ! inherited mitral valve disease
intersection_of: MONDO:0004910 ! mitral valve prolapse (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834819
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931504
property_value: exactMatch http://identifiers.org/snomedct/233858000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340364
property_value: exactMatch Orphanet:741

[Term]
id: MONDO:0008005
name: cardiospondylocarpofacial syndrome
def: "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." [Orphanet:3238]
subset: ordo_malformation_syndrome {source="Orphanet:3238"}
synonym: "cardiospondylocarpofacial syndrome" EXACT [OMIM:157800]
synonym: "cardiospondylocarpofacial syndrome; CSCF" RELATED [OMIM:157800]
synonym: "congenital heart disease, deafness, and skeletal malformations" RELATED [GARD:0002362]
synonym: "CSCF" RELATED [OMIM:157800]
synonym: "Forney Robinson Pascoe syndrome" RELATED [GARD:0002362]
synonym: "Forney syndrome" EXACT [Orphanet:3238]
synonym: "Forney-Robinson-Pascoe syndrome" EXACT [Orphanet:3238]
synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [OMIM:157800]
synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238]
xref: GARD:0002362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C563572 {source="MONDO:equivalentTo"}
xref: OMIM:157800 {source="ORDO:3238/e", source="MONDO:equivalentTo", source="Orphanet:3238"}
xref: Orphanet:3238 {source="MONDO:equivalentTo", source="OMIM:157800"}
xref: SCTID:720612000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN204053 {source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:3238"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834818
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931461
property_value: exactMatch http://identifiers.org/mesh/C563572
property_value: exactMatch http://identifiers.org/omim/157800
property_value: exactMatch http://identifiers.org/snomedct/720612000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204053
property_value: exactMatch Orphanet:3238

[Term]
id: MONDO:0008006
name: Mobius syndrome
def: "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." [Orphanet:570]
subset: ordo_disease {source="Orphanet:570"}
synonym: "absence or underdevelopment of the 6th and 7th cranial nerves" RELATED [GARD:0008549]
synonym: "congenital facial diplegia" EXACT [Orphanet:570]
synonym: "congenital facial diplegia syndrome" RELATED [GARD:0008549]
synonym: "congenital oculofacial paralysis" RELATED [GARD:0008549]
synonym: "MBS" RELATED [MONDO:Lexical, OMIM:157900]
synonym: "Mobius syndrome" EXACT [OMIM:157900]
synonym: "Moebius congenital oculofacial paralysis" EXACT [DOID:13501]
synonym: "Moebius sequence" RELATED [OMIM:157900]
synonym: "Moebius syndrome" RELATED [MONDO:Lexical, OMIM:157900]
synonym: "Moebius syndrome; MBS" RELATED [OMIM:157900]
synonym: "Möbius syndrome" EXACT [NCIT:C84893, Orphanet:570]
synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501]
xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"}
xref: EFO:1001046 {source="MONDO:equivalentTo"}
xref: GARD:0008549 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:570/ntbt", source="Orphanet:570", source="DOID:13501", source="ORDO:570/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027789 {source="EFO:1001046"}
xref: MedDRA:10030069 {source="ORDO:570/e", source="Orphanet:570"}
xref: MESH:D020331 {source="EFO:1001046", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="DOID:13501"}
xref: NCIT:C84893 {source="EFO:1001046", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.82", source="DOID:13501"}
xref: OMIM:157900 {source="EFO:1001046", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="DOID:13501"}
xref: Orphanet:570 {source="MONDO:equivalentTo", source="OMIM:157900"}
xref: SCTID:89444000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.83", source="DOID:13501"}
xref: UMLS:C0221060 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="OMIM:157900", source="NCIT:C84893", source="DOID:13501"}
xref: UMLS:C0853240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:570"}
is_a: MONDO:0002098 {source="DOID:13501", source="MESH:D020331"} ! facial nerve disease
is_a: MONDO:0015083 {source="Orphanet:570"} ! nuclear oculomotor paralysis
is_a: MONDO:0015334 {source="Orphanet:570"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015499 {source="Orphanet:570"} ! paralytic facial malformation
is_a: MONDO:0020132 {source="Orphanet:570"} ! cranial nerve and nuclear aplasia
is_a: MONDO:0020253 {source="Orphanet:570"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:570"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/meddra/10027789
property_value: closeMatch http://identifiers.org/snomedct/393607001
property_value: exactMatch DOID:13501
property_value: exactMatch http://identifiers.org/meddra/10030069
property_value: exactMatch http://identifiers.org/mesh/D020331
property_value: exactMatch http://identifiers.org/omim/157900
property_value: exactMatch http://identifiers.org/snomedct/89444000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853240
property_value: exactMatch NCIT:C84893
property_value: exactMatch Orphanet:570

[Term]
id: MONDO:0008007
name: tooth ankylosis
def: "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." [Orphanet:1077]
subset: ordo_malformation_syndrome {source="Orphanet:1077"}
synonym: "abnormal fusion of dental cementum with alveolar bone" RELATED [GARD:0000701]
synonym: "ankylosis (disease) of calcareous tooth" EXACT []
synonym: "ankylosis of teeth" EXACT [DOID:12661, ICD9CM_2006:521.6, OMIM:157950, Orphanet:1077]
synonym: "ankylosis of tooth" EXACT [DOID:12661]
synonym: "calcareous tooth ankylosis (disease)" EXACT [MONDO:patterns/location]
synonym: "dental ankylosis" RELATED [OMIM:157950]
synonym: "molar 1 reinclusion" RELATED [OMIM:157950]
synonym: "molar I reinclusion" RELATED [GARD:0000701]
synonym: "permanent molars, secondary retention OF" RELATED [OMIM:157950]
synonym: "secondary retention of permanent molars" RELATED [GARD:0000701]
xref: COHD:433229 {source="MONDO:equivalentTo"}
xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"}
xref: EFO:1001215 {source="MONDO:equivalentTo"}
xref: GARD:0000701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K03.5 {source="Orphanet:1077", source="ORDO:1077/e", source="ORDO:1077/specific", source="DOID:12661"}
xref: ICD9:521.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:12661"}
xref: MedDRA:10044019 {source="Orphanet:1077", source="ORDO:1077/e", source="EFO:1001215"}
xref: MESH:D020254 {source="Orphanet:1077", source="ORDO:1077/e", source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661"}
xref: OMIM:157950 {source="MONDO:equivalentTo", source="DOID:12661"}
xref: Orphanet:1077 {source="MONDO:equivalentTo"}
xref: SCTID:14901003 {source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155930 {source="Orphanet:1077", source="ORDO:1077/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:157950", source="DOID:12661"}
is_a: MONDO:0002220 {source="DOID:12661"} ! tooth hard tissue disease
is_a: MONDO:0002257 {source="DOID:12661", source="MONDO:Entailed", source="MONDO:Redundant"} ! ankylosis (disease)
is_a: MONDO:0015603 {source="Orphanet:1077"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:1077"} ! rare genetic odontal or periodontal disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931182
property_value: exactMatch DOID:12661
property_value: exactMatch http://identifiers.org/meddra/10044019
property_value: exactMatch http://identifiers.org/mesh/D020254
property_value: exactMatch http://identifiers.org/omim/157950
property_value: exactMatch http://identifiers.org/snomedct/14901003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155930
property_value: exactMatch Orphanet:1077

[Term]
id: MONDO:0008008
name: MOMO syndrome
def: "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." [Orphanet:2563]
subset: gard_rare {source="GARD:0000178"}
subset: ordo_malformation_syndrome {source="Orphanet:2563"}
synonym: "macrocephaly-obesity-mental disability-ocular abnormalities syndrome" EXACT [Orphanet:2563]
synonym: "macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" RELATED [GARD:0000178]
synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [OMIM:157980]
synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD:0000178]
synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563]
synonym: "momo syndrome" EXACT [OMIM:157980]
xref: GARD:0000178 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="Orphanet:2563", source="ORDO:2563/attributed", source="ORDO:2563/ntbt"}
xref: MESH:C535812 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:157980 {source="ORDO:2563/e", source="Orphanet:2563", source="MONDO:equivalentTo"}
xref: Orphanet:2563 {source="OMIM:157980", source="MONDO:equivalentTo"}
xref: SCTID:724137002 {source="MONDO:equivalentTo"}
xref: UMLS:C1834759 {source="ORDO:2563/e", source="Orphanet:2563", source="OMIM:157980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016565 {source="Orphanet:2563"} ! syndromic genetic obesity
property_value: exactMatch http://identifiers.org/mesh/C535812
property_value: exactMatch http://identifiers.org/omim/157980
property_value: exactMatch http://identifiers.org/snomedct/724137002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834759
property_value: exactMatch Orphanet:2563
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/178/momo-syndrome xsd:anyURI {source="GARD:0000178"}

[Term]
id: MONDO:0008009
name: monilethrix
def: "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." [Orphanet:573]
subset: gard_rare {source="GARD:0000093"}
subset: ordo_disease {source="Orphanet:573"}
synonym: "MNLIX" RELATED [MONDO:Lexical, OMIM:158000]
synonym: "monilethrix" EXACT [MONDO:Lexical, OMIM:158000]
synonym: "monilethrix; MNLIX" RELATED [OMIM:158000]
synonym: "moniliform hair syndrome" EXACT [Orphanet:573]
synonym: "nodose hair" RELATED [GARD:0000093]
xref: DOID:0050472 {source="MONDO:equivalentTo"}
xref: GARD:0000093 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.1 {source="ORDO:573/inclusion", source="ORDO:573/ntbt", source="Orphanet:573", source="DOID:0050472"}
xref: MESH:D056734 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:573/e", source="Orphanet:573", source="DOID:0050472"}
xref: NCIT:C84894 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050472"}
xref: OMIM:158000 {source="MONDO:equivalentTo", source="ORDO:573/e", source="Orphanet:573", source="DOID:0050472"}
xref: Orphanet:573 {source="OMIM:158000", source="MONDO:equivalentTo"}
xref: SCTID:69488000 {source="MONDO:equivalentTo", source="DOID:0050472"}
xref: UMLS:C0546966 {source="OMIM:158000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:573/e", source="NCIT:C84894", source="Orphanet:573", source="DOID:0050472"}
is_a: MONDO:0000426 {source="DOID:0050472", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019281 {source="Orphanet:573"} ! isolated genetic hair shaft abnormality
property_value: closeMatch http://identifiers.org/omim/252200
property_value: closeMatch http://identifiers.org/snomedct/205596006
property_value: closeMatch http://identifiers.org/snomedct/276482004
property_value: exactMatch DOID:0050472
property_value: exactMatch http://identifiers.org/mesh/D056734
property_value: exactMatch http://identifiers.org/omim/158000
property_value: exactMatch http://identifiers.org/snomedct/69488000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546966
property_value: exactMatch NCIT:C84894
property_value: exactMatch Orphanet:573
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/93/monilethrix xsd:anyURI {source="GARD:0000093"}

[Term]
id: MONDO:0008010
name: antigen defined by monoclonal antibody Aj9
synonym: "antigen defined by monoclonal antibody Aj9" EXACT [OMIM:158030]
synonym: "Msk1" RELATED [OMIM:158030]
xref: OMIM:158030 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834757
property_value: exactMatch http://identifiers.org/omim/158030

[Term]
id: MONDO:0008011
name: antigen defined by monoclonal antibody T87
synonym: "antigen defined by monoclonal antibody T87" EXACT [OMIM:158040]
synonym: "Msk2" RELATED [OMIM:158040]
xref: OMIM:158040 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834756
property_value: exactMatch http://identifiers.org/omim/158040

[Term]
id: MONDO:0008012
name: Monophalangy of great toe
synonym: "Monophalangy of great toe" EXACT [OMIM:158100]
xref: MESH:C563570 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158100 {source="MONDO:equivalentTo"}
xref: UMLS:C1834753 {source="NCBI:mim2gene_medline", source="OMIM:158100", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563570
property_value: exactMatch http://identifiers.org/omim/158100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834753

[Term]
id: MONDO:0008013
name: chromosome 9p deletion syndrome
def: "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." [Orphanet:261112]
subset: ordo_malformation_syndrome {source="Orphanet:261112"}
synonym: "9p deletion" RELATED [GARD:0003773]
synonym: "9p deletion syndrome" EXACT [Orphanet:261112]
synonym: "9p monosomy" RELATED [GARD:0003773]
synonym: "9p syndrome" EXACT [DOID:0060732]
synonym: "9p- syndrome" EXACT [Orphanet:261112]
synonym: "Alfi syndrome" EXACT [DOID:0060732, Orphanet:261112]
synonym: "chromosome 9p deletion" RELATED [GARD:0003773]
synonym: "chromosome 9p deletion syndrome" EXACT [OMIM:158170]
synonym: "deletion 9p" RELATED [GARD:0003773]
synonym: "monosomy 9p" RELATED [Orphanet:261112]
synonym: "monosomy 9P syndrome" RELATED [OMIM:158170]
synonym: "monosomy 9p syndrome" EXACT [DOID:0060732]
synonym: "monosomy type 9p" EXACT [MONDORULE:4, Orphanet:261112]
synonym: "partial monosomy 9p" RELATED [GARD:0003773]
xref: DOID:0060732 {source="MONDO:equivalentTo"}
xref: GARD:0003773 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="ORDO:261112/attributed", source="ORDO:261112/ntbt", source="DOID:0060732", source="Orphanet:261112"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158170 {source="DOID:0060732", source="MONDO:equivalentTo", source="Orphanet:261112", source="ORDO:261112/e"}
xref: Orphanet:261112 {source="DOID:0060732", source="MONDO:equivalentTo", source="OMIM:158170"}
xref: SCTID:62599000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
is_a: MONDO:0000761 {source="DC-OMIM:158170", source="DOID:0060732"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016891 {source="Orphanet:261112"} ! partial deletion of the short arm of chromosome 9
property_value: exactMatch DOID:0060732
property_value: exactMatch http://identifiers.org/mesh/C538024
property_value: exactMatch http://identifiers.org/omim/158170
property_value: exactMatch http://identifiers.org/snomedct/62599000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795830
property_value: exactMatch Orphanet:261112

[Term]
id: MONDO:0008014
name: nondisjunction
synonym: "mixoploidy, familial" RELATED [OMIM:158250]
synonym: "mosaicism, chromosomal" RELATED [OMIM:158250]
synonym: "nondisjunction" EXACT [OMIM:158250]
xref: OMIM:158250 {source="MONDO:equivalentTo"}
xref: UMLS:C1834741 {source="OMIM:158250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495586
property_value: exactMatch http://identifiers.org/omim/158250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834741

[Term]
id: MONDO:0008015
name: motion sickness
def: "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." [NCIT:P378]
synonym: "motion sickness" EXACT [OMIM:158280]
synonym: "travel sickness" EXACT [DOID:2951, NCIT:C34824]
xref: COHD:30284 {source="MONDO:equivalentTo"}
xref: DOID:2951 {source="MONDO:equivalentTo"}
xref: EFO:0006928 {source="MONDO:equivalentTo"}
xref: ICD10:T75.3 {source="MONDO:equivalentTo", source="DOID:2951"}
xref: ICD9:994.6 {source="DOID:2951"}
xref: MESH:D009041 {source="MONDO:equivalentTo", source="DOID:2951", source="MONDO:ontobio"}
xref: OMIM:158280 {source="MONDO:equivalentTo", source="DOID:2951"}
xref: UMLS:C0026603 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2951", source="OMIM:158280"}
is_a: MONDO:0002467 {source="DOID:2951"} ! inner ear disease
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch http://identifiers.org/snomedct/157749008
property_value: closeMatch http://identifiers.org/snomedct/212973000
property_value: closeMatch http://identifiers.org/snomedct/212974006
property_value: closeMatch http://identifiers.org/snomedct/269278001
property_value: closeMatch http://identifiers.org/snomedct/37031009
property_value: exactMatch DOID:2951
property_value: exactMatch http://identifiers.org/mesh/D009041
property_value: exactMatch http://identifiers.org/omim/158280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026603
property_value: exactMatch NCIT:C34824

[Term]
id: MONDO:0008016
name: trismus-pseudocamptodactyly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3377"}
synonym: "arthrogryposis distal type 7" RELATED [GARD:0002621]
synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical, OMIM:158300]
synonym: "arthrogryposis, distal, type 7; DA7" RELATED [OMIM:158300]
synonym: "DA7" RELATED [MONDO:Lexical, OMIM:158300]
synonym: "distal arthrogryposis type 7" EXACT [Orphanet:3377]
synonym: "Dutch-Kentucky syndrome" EXACT [Orphanet:3377]
synonym: "Hecht syndrome" EXACT [OMIM:158300, Orphanet:3377]
synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377]
synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300]
synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300]
xref: GARD:0002621 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q68.8 {source="Orphanet:3377", source="ORDO:3377/attributed", source="ORDO:3377/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535857 {source="MONDO:equivalentTo"}
xref: OMIM:158300 {source="ORDO:3377/e", source="Orphanet:3377", source="MONDO:equivalentTo"}
xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"}
xref: SCTID:8757006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265226 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:3377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158300"}
is_a: MONDO:0019942 {source="DC-OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C535857
property_value: exactMatch http://identifiers.org/omim/158300
property_value: exactMatch http://identifiers.org/snomedct/8757006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265226
property_value: exactMatch Orphanet:3377

[Term]
id: MONDO:0008017
name: hereditary mucoepithelial dysplasia
def: "Hereditary mucoepithelial dysplasia (HMD) isa condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums ( gingiva ), eyes, noseand lungs. Symptoms typically begin in infancy and may includedevelopment of cataracts (clouding of the eye lens); blindness;hair loss( alopecia ); abnormal changes to the perineum (the area between the anus and external genitalia);and small, skin-colored bumps ( keratosis pilaris ). Terminal lung disease has also been reported.The cause of HMD is thought to be an abnormality in desmosomes and gap junctions , which are structures involved in cell-to-cell contact.HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who hasno family history of the condition).Treatment typically focuses on individual symptoms of the condition." [https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia]
subset: gard_rare {source="GARD:0005427"}
subset: ordo_malformation_syndrome {source="Orphanet:1839"}
synonym: "Hmd" RELATED [OMIM:158310]
synonym: "mucoepithelial dysplasia, hereditary" RELATED [OMIM:158310]
synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839]
xref: GARD:0005427 {source="MONDO:equivalentTo"}
xref: ICD9:478.79 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158310 {source="MONDO:equivalentTo", source="Orphanet:1839", source="ORDO:1839/e"}
xref: Orphanet:1839 {source="OMIM:158310", source="MONDO:equivalentTo"}
xref: SCTID:403442005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0019305 {source="Orphanet:1839"} ! immune deficiency with skin involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1274795
property_value: exactMatch http://identifiers.org/mesh/C536476
property_value: exactMatch http://identifiers.org/omim/158310
property_value: exactMatch http://identifiers.org/snomedct/403442005
property_value: exactMatch Orphanet:1839
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia xsd:anyURI {source="GARD:0005427"}

[Term]
id: MONDO:0008018
name: Muir-Torre syndrome
def: "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." [Orphanet:587]
subset: ordo_clinical_subtype {source="Orphanet:587"}
synonym: "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" RELATED [GARD:0006821]
synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [OMIM:158320]
synonym: "MRTES" RELATED [MONDO:Lexical, OMIM:158320]
synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320]
synonym: "MUIR-Torre syndrome; MRTES" RELATED [OMIM:158320]
synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587]
xref: DOID:0050465 {source="MONDO:equivalentTo"}
xref: GARD:0006821 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L72.8 {source="Orphanet:587", source="ORDO:587/attributed", source="ORDO:587/ntbt"}
xref: MedDRA:10063042 {source="Orphanet:587", source="ORDO:587/e"}
xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:587/e"}
xref: NCIT:C84905 {source="DOID:0050465", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:158320 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="ORDO:587/e"}
xref: Orphanet:587 {source="OMIM:158320", source="MONDO:equivalentTo"}
xref: SCTID:403824007 {source="DOID:0050465", source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
xref: UMLS:C1321489 {source="Orphanet:587", source="DOID:0050465", source="NCBI:mim2gene_medline", source="OMIM:158320", source="MONDO:equivalentTo", source="NCIT:C84905", source="ORDO:587/e"}
is_a: MONDO:0005835 {source="DOID:0050465", source="Orphanet:587"} ! Lynch syndrome
is_a: MONDO:0015950 {source="Orphanet:587", source="indirect"} ! inherited skin tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020173 {source="Orphanet:587"} ! benign tumor of palpebral epidermis
is_a: MONDO:0020176 {source="Orphanet:587"} ! palpebral sebaceous gland tumor
is_a: MONDO:0021490 ! benign neoplasm of sebaceous gland
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:587"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch DOID:0050465
property_value: exactMatch http://identifiers.org/meddra/10063042
property_value: exactMatch http://identifiers.org/mesh/D055653
property_value: exactMatch http://identifiers.org/omim/158320
property_value: exactMatch http://identifiers.org/snomedct/403824007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321489
property_value: exactMatch NCIT:C84905
property_value: exactMatch Orphanet:587

[Term]
id: MONDO:0008019
name: mullerian aplasia and hyperandrogenism
def: "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." [NCIT:C120376]
subset: ordo_malformation_syndrome {source="Orphanet:247768"}
synonym: "mullerian aplasia and hyperandrogenism" EXACT [OMIM:158330]
synonym: "Mullerian duct failure and hyperandrogenism" EXACT [OMIM:158330, Orphanet:247768]
synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768]
synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768]
synonym: "WNT4 deficiency" EXACT [Orphanet:247768]
xref: ICD10:Q51.8 {source="ORDO:247768/attributed", source="ORDO:247768/ntbt", source="Orphanet:247768"}
xref: MESH:C567186 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C120376 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:158330 {source="ORDO:247768/e", source="MONDO:equivalentTo", source="Orphanet:247768"}
xref: Orphanet:247768 {source="OMIM:158330", source="MONDO:equivalentTo"}
xref: UMLS:C2675014 {source="MEDGEN:kboom-pr98-c99", source="OMIM:158330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247768", source="NCIT:C120376"}
is_a: MONDO:0015830 {source="Orphanet:247768", source="Orphanet:247768/inferred"} ! partial bilateral aplasia of the mullerian ducts
is_a: MONDO:0017965 {source="Orphanet:247768"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:247768"} ! syndrome with disorder of sex development of gynecological interest
property_value: exactMatch http://identifiers.org/mesh/C567186
property_value: exactMatch http://identifiers.org/omim/158330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675014
property_value: exactMatch NCIT:C120376
property_value: exactMatch Orphanet:247768

[Term]
id: MONDO:0008020
name: multiple exostoses with spastic tetraparesis
synonym: "Hamann Zanki schimrigk syndrome" RELATED [GARD:0000291]
synonym: "multiple exostoses with spastic tetraparesis" EXACT [OMIM:158345]
synonym: "spasticity multiple exostoses" RELATED [GARD:0000291]
xref: GARD:0000291 {source="shared-xref", source="MONDO:equivalentTo"}
xref: MESH:C563566 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158345 {source="MONDO:equivalentTo"}
xref: UMLS:C1834724 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158345"}
is_a: MONDO:0003847 {source="MESH:C563566/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563566
property_value: exactMatch http://identifiers.org/omim/158345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834724

[Term]
id: MONDO:0008021
name: Cowden syndrome 1
def: "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [OMIM:158350]
synonym: "cerebelloparenchymal disorder 6" RELATED [OMIM:158350]
synonym: "Cowden disease caused by mutation in PTEN" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 1" EXACT [MONDO:Lexical, OMIM:158350]
synonym: "Cowden syndrome 1; CWS1" RELATED [OMIM:158350]
synonym: "Cowden syndrome type 1" EXACT [MONDORULE:1, OMIM:158350]
synonym: "CS" RELATED [OMIM:158350]
synonym: "CWS1" RELATED [MONDO:Lexical, OMIM:158350]
synonym: "dysplastic gangliocytoma of the cerebellum" RELATED [OMIM:158350]
synonym: "Lhermitte-Duclos disease" RELATED [OMIM:158350]
synonym: "multiple hamartoma syndrome" RELATED [OMIM:158350]
synonym: "Proteus-like syndrome" RELATED [OMIM:158350]
synonym: "PTEN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:158350 {source="MONDO:equivalentTo"}
xref: UMLS:CN072330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016063 {source="DC-OMIM:158350", source="MONDO:Redundant", source="MONDOLEX:0008021", source="OMIM:158350"} ! Cowden disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834711
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834712
property_value: exactMatch http://identifiers.org/omim/158350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072330

[Term]
id: MONDO:0008022
name: muscle cramps, familial
synonym: "muscle cramps, familial" EXACT [OMIM:158400]
xref: MESH:C563563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158400 {source="MONDO:equivalentTo"}
xref: UMLS:C1834708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563563
property_value: exactMatch http://identifiers.org/omim/158400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834708

[Term]
id: MONDO:0008023
name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
def: "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." [Orphanet:2579]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2579"}
synonym: "Furukawa-Takagi-Nakao syndrome" EXACT [Orphanet:2579]
synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RELATED [GARD:0002417]
synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500]
xref: GARD:0002417 {source="MONDO:equivalentTo"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="ORDO:2579/e", source="GARD:0002417"}
xref: Orphanet:2579 {source="MONDO:equivalentTo", source="OMIM:158500"}
xref: SCTID:237611007 {source="MONDO:kboom-pr-1.00/0.77/6.20", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:2579"} ! hereditary ataxia
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020240 {source="Orphanet:2579"} ! syndromic retinitis pigmentosa
is_a: MONDO:0022687 ! cerebellar degeneration
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C538193
property_value: exactMatch http://identifiers.org/omim/158500
property_value: exactMatch http://identifiers.org/snomedct/237611007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931765
property_value: exactMatch Orphanet:2579
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus xsd:anyURI {source="GARD:0002417"}

[Term]
id: MONDO:0008024
name: neuronopathy, distal hereditary motor, type 7A
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Dhmn7A" RELATED [OMIM:158580]
synonym: "Dhmnvp" RELATED [OMIM:158580]
synonym: "Harper-Young myopathy" RELATED [OMIM:158580]
synonym: "HMN 7A" RELATED [OMIM:158580]
synonym: "HMN7A" RELATED [MONDO:Lexical, OMIM:158580]
synonym: "neuronopathy, distal hereditary motor caused by mutation in SLC5A7" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VIIA" RELATED [MONDO:Lexical, OMIM:158580]
synonym: "neuronopathy, distal hereditary motor, type VIIA; HMN7A" RELATED [OMIM:158580]
synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [OMIM:158580]
synonym: "SLC5A7 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [OMIM:158580]
xref: MESH:C563562 {source="MONDO:equivalentTo"}
xref: OMIM:158580 {source="MONDO:equivalentTo"}
xref: UMLS:C1834703 {source="OMIM:158580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:158580", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015355 {source="ORDO:139589/btnt"} ! distal hereditary motor neuropathy type 7
property_value: exactMatch http://identifiers.org/mesh/C563562
property_value: exactMatch http://identifiers.org/omim/158580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834703

[Term]
id: MONDO:0008025
name: neuronopathy, distal hereditary motor, type 2A
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [OMIM:158590]
synonym: "HMN 2A" RELATED [OMIM:158590]
synonym: "HMN2A" RELATED [MONDO:Lexical, OMIM:158590]
synonym: "HSPB8 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB8" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexical, OMIM:158590]
synonym: "neuronopathy, distal hereditary motor, type IIA; HMN2A" RELATED [OMIM:158590]
synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [OMIM:158590]
synonym: "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" RELATED [OMIM:158590]
xref: MESH:C563561 {source="MONDO:equivalentTo"}
xref: OMIM:158590 {source="MONDO:equivalentTo"}
xref: UMLS:C1834692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158590"}
is_a: MONDO:0000075 {source="DC-OMIM:158590", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2
property_value: exactMatch http://identifiers.org/mesh/C563561
property_value: exactMatch http://identifiers.org/omim/158590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834692

[Term]
id: MONDO:0008026
name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
subset: ordo_clinical_subtype {source="Orphanet:209341"}
synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [OMIM:158600]
synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [Orphanet:209341]
synonym: "Sma-led" RELATED [OMIM:158600]
synonym: "SMALED1" EXACT [MONDO:Lexical, OMIM:158600, Orphanet:209341]
synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELATED [OMIM:158600]
synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [OMIM:158600]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant; SMALED1" RELATED [OMIM:158600]
xref: ICD10:G12.1 {source="ORDO:209341/attributed", source="ORDO:209341/ntbt", source="Orphanet:209341"}
xref: MESH:C563560 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="ORDO:209341/e"}
xref: Orphanet:209341 {source="MONDO:equivalentTo", source="OMIM:158600"}
xref: UMLS:C1834690 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:209341", source="OMIM:158600"}
is_a: MONDO:0018190 {source="MONDOLEX:0008026", source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C563560
property_value: exactMatch http://identifiers.org/omim/158600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834690
property_value: exactMatch Orphanet:209341

[Term]
id: MONDO:0008027
name: muscular atrophy, malignant neurogenic
synonym: "muscular atrophy, malignant neurogenic" EXACT [OMIM:158650]
xref: MESH:C563559 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158650 {source="MONDO:equivalentTo"}
xref: UMLS:C1834689 {source="NCBI:mim2gene_medline", source="OMIM:158650", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563559
property_value: exactMatch http://identifiers.org/omim/158650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834689

[Term]
id: MONDO:0008028
name: muscular dystrophy, Barnes type
synonym: "muscular dystrophy, Barnes type" EXACT [OMIM:158800]
xref: MESH:C563558 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158800 {source="MONDO:equivalentTo"}
xref: UMLS:C1834688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158800"}
is_a: MONDO:0020121 {source="DC-OMIM:158800", source="MESH:C563558"} ! muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563558
property_value: exactMatch http://identifiers.org/omim/158800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834688

[Term]
id: MONDO:0008029
name: Bethlem myopathy
def: "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." [NCIT:C126688]
comment: Editor note: consider separating type 1 form
subset: ordo_disease {source="Orphanet:610"}
subset: prototype_pattern
synonym: "benign autosomal dominant myopathy" EXACT [Orphanet:610]
synonym: "benign congenital muscular dystrophy" EXACT [DOID:0050663]
synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical, OMIM:158810]
synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810]
synonym: "BTHLM1" RELATED [MONDO:Lexical, OMIM:158810]
xref: DOID:0050663 {source="MONDO:equivalentTo"}
xref: GARD:0000873 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:610", source="ORDO:610/attributed", source="ORDO:610/ntbt"}
xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:610/e"}
xref: NCIT:C126688 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.52"}
xref: OMIMPS:158810 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:610 {source="MONDO:equivalentTo", source="OMIM:158810"}
xref: SCTID:718572004 {source="MONDO:kboom-pr-1.00/0.80/9.28", source="MONDO:equivalentTo"}
xref: UMLS:C1834674 {source="Orphanet:610", source="MONDO:equivalentTo", source="NCIT:C126688", source="OMIM:158810", source="ORDO:610/e"}
is_a: MONDO:0005307 {source="MESH:C535436"} ! contracture
is_a: MONDO:0016106 {source="Orphanet:610"} ! progressive muscular dystrophy
is_a: MONDO:0016148 {source="Orphanet:610"} ! qualitative or quantitative defects of collagen 6
is_a: MONDO:0019950 {source="DOID:0050663", source="MONDOLEX:0008029", source="Orphanet:610"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0050663
property_value: exactMatch http://identifiers.org/mesh/C535436
property_value: exactMatch http://identifiers.org/snomedct/718572004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834674
property_value: exactMatch NCIT:C126688
property_value: exactMatch Orphanet:610

[Term]
id: MONDO:0008030
name: facioscapulohumeral muscular dystrophy 1
def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles" RELATED [MESH:C536391, OMIM:158900]
synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included" RELATED [MESH:C536391]
synonym: "facioscapulohumeral muscular dystrophy" BROAD [MESH:C536391, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy 1" EXACT [MESH:C536391, MONDO:Lexical, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy 1; FSHD1" RELATED [OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy 1A" RELATED [GARD:0009941]
synonym: "facioscapulohumeral muscular dystrophy caused by mutation in FRG1" EXACT [MONDO:design_pattern]
synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy, infantile" RELATED [MESH:C536391, OMIM:158900]
synonym: "FMD" BROAD [MESH:C536391]
synonym: "FRG1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FSHD" BROAD [GARD:0009941, MESH:C536391]
synonym: "FSHD1" RELATED [MESH:C536391, MONDO:Lexical, OMIM:158900]
synonym: "FSHD1A" RELATED [GARD:0009941, MESH:C536391]
synonym: "FSHMD1A" RELATED [GARD:0009941, MESH:C536391]
synonym: "Landouzy-Dejerine muscular dystrophy" RELATED [GARD:0009941, MESH:C536391, OMIM:158900]
synonym: "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included" RELATED [MESH:C536391]
synonym: "muscular dystrophy, facioscapulohumeral" RELATED [GARD:0009941]
synonym: "muscular dystrophy, facioscapulohumeral, type 1" RELATED [MESH:C536391, OMIM:158900]
synonym: "muscular dystrophy, facioscapulohumeral, type 1A" NARROW [GARD:0009941, MESH:C536391, OMIM:158900]
xref: GARD:0009941 {source="MONDO:equivalentTo"}
xref: MESH:C536391 {source="MONDO:equivalentTo"}
xref: OMIM:158900 {source="MONDO:equivalentTo", source="GARD:0009941"}
is_a: MONDO:0001347 {source="DC-OMIM:158900", source="MESH:C536391", source="MONDO:Redundant", source="MONDOLEX:0008030", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834673
property_value: exactMatch http://identifiers.org/mesh/C536391
property_value: exactMatch http://identifiers.org/omim/158900
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy xsd:anyURI {source="GARD:0009941"}

[Term]
id: MONDO:0008031
name: facioscapulohumeral muscular dystrophy 2
def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:158901]
synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [OMIM:158901]
synonym: "facioscapulohumeral muscular dystrophy 2; FSHD2" RELATED [OMIM:158901]
synonym: "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" EXACT [MONDO:design_pattern]
synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:158901]
synonym: "FSHD2" RELATED [MONDO:Lexical, OMIM:158901]
synonym: "Fshd2, digenic" RELATED [OMIM:158901]
synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [OMIM:158901]
synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [OMIM:158901]
synonym: "SMCHD1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563557 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:158901 {source="MONDO:equivalentTo"}
xref: UMLS:C1834671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158901"}
is_a: MONDO:0001347 {source="DC-OMIM:158901", source="MESH:C563557", source="MONDO:Redundant", source="MONDOLEX:0008031", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563557
property_value: exactMatch http://identifiers.org/omim/158901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834671

[Term]
id: MONDO:0008032
name: autosomal dominant limb-girdle muscular dystrophy type 1A
def: "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed." [Orphanet:266]
subset: gard_rare
subset: ordo_disease {source="Orphanet:266"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern]
synonym: "LGMD1" RELATED [GARD:0010229, OMIM:159000]
synonym: "LGMD1A" EXACT [DOID:0110300, GARD:0010229, MONDO:Lexical, OMIM:159000, Orphanet:266]
synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [DOID:0110300, Orphanet:266]
synonym: "limb-girdle muscular dystrophy type 1A" RELATED [GARD:0010229]
synonym: "muscular dystrophy limb-girdle type 1A" EXACT [DOID:0110300]
synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical, OMIM:159000]
synonym: "muscular dystrophy, limb-girdle, type 1A; LGMD1A" RELATED [OMIM:159000]
synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229, OMIM:159000]
synonym: "MYOT autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300]
xref: DOID:0110300 {source="MONDO:equivalentTo"}
xref: GARD:0010229 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:266/ntbt", source="ORDO:266/inclusion", source="DOID:0110300", source="Orphanet:266"}
xref: MESH:C535906 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159000 {source="MONDO:equivalentTo", source="GARD:0010229", source="ORDO:266/e", source="DOID:0110300", source="Orphanet:266"}
xref: Orphanet:266 {source="OMIM:159000", source="MONDO:equivalentTo", source="GARD:0010229", source="DOID:0110300"}
xref: SCTID:719985001 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C1834659 {source="OMIM:159000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010229", source="Orphanet:266"}
is_a: MONDO:0015151 {source="DOID:0110300", source="MONDO:Redundant", source="MONDOLEX:0008032", source="OMIM:159000", source="Orphanet:266"} ! autosomal dominant limb-girdle muscular dystrophy
is_a: MONDO:0016201 {source="Orphanet:266"} ! qualitative or quantitative defects of myotilin
property_value: exactMatch DOID:0110300
property_value: exactMatch http://identifiers.org/mesh/C535906
property_value: exactMatch http://identifiers.org/omim/159000
property_value: exactMatch http://identifiers.org/snomedct/719985001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834659
property_value: exactMatch Orphanet:266
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a xsd:anyURI {source="GARD:0010229"}

[Term]
id: MONDO:0008033
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
def: "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." [Orphanet:264]
is_obsolete: true
replaced_by: MONDO:0021569

[Term]
id: MONDO:0008034
name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries
synonym: "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" EXACT [OMIM:159050]
xref: MESH:C563554 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159050 {source="MONDO:equivalentTo"}
xref: UMLS:C1834652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159050"}
is_a: MONDO:0010311 {source="ORDO:98895/btnt"} ! Becker muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563554
property_value: exactMatch http://identifiers.org/omim/159050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834652

[Term]
id: MONDO:0008035
name: muscular hypoplasia, congenital universal, of Krabbe
synonym: "muscular hypoplasia, congenital universal, of Krabbe" EXACT [OMIM:159100]
xref: MESH:C563553 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159100 {source="MONDO:equivalentTo"}
xref: UMLS:C1834651 {source="OMIM:159100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563553
property_value: exactMatch http://identifiers.org/omim/159100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834651

[Term]
id: MONDO:0008036
name: myasthenia, limb-girdle, autoimmune
synonym: "myasthenia gravis, limb-girdle" RELATED [OMIM:159400]
synonym: "myasthenia, limb-girdle, autoimmune" EXACT [OMIM:159400]
xref: GARD:0008575 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563552 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159400 {source="MONDO:equivalentTo"}
xref: UMLS:C1834635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159400"}
is_a: MONDO:0009688 {source="MESH:C563552", source="ORDO:589/btnt"} ! myasthenia gravis
property_value: exactMatch http://identifiers.org/mesh/C563552
property_value: exactMatch http://identifiers.org/omim/159400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834635

[Term]
id: MONDO:0008037
name: myelinated optic nerve fibers
synonym: "myelinated optic nerve fibers" EXACT [OMIM:159500]
xref: OMIM:159500 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834600
property_value: exactMatch http://identifiers.org/omim/159500

[Term]
id: MONDO:0008038
name: ataxia-pancytopenia syndrome
def: "Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." [Orphanet:2585]
subset: ordo_malformation_syndrome {source="Orphanet:2585"}
synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550]
synonym: "ataxia-pancytopenia syndrome; ATXPC" RELATED [OMIM:159550]
synonym: "ATXPC" RELATED [OMIM:159550]
synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585]
xref: GARD:0003865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D61.0 {source="MONDO:relatedTo", source="Orphanet:2585", source="ORDO:2585/attributed", source="ORDO:2585/ntbt"}
xref: MESH:C563233 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159550 {source="ORDO:2585/e", source="Orphanet:2585", source="MONDO:equivalentTo"}
xref: Orphanet:2585 {source="OMIM:159550", source="MONDO:equivalentTo"}
xref: SCTID:768556005 {source="MONDO:equivalentTo"}
xref: UMLS:C1327919 {source="OMIM:159550", source="Orphanet:2585", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015141 {source="Orphanet:2585"} ! disorder of medulla oblongata
is_a: MONDO:0019117 {source="Orphanet:2585", source="Orphanet:2585/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563233
property_value: exactMatch http://identifiers.org/omim/159550
property_value: exactMatch http://identifiers.org/snomedct/768556005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327919
property_value: exactMatch Orphanet:2585

[Term]
id: MONDO:0008039
name: tropical spastic paraparesis
def: "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." [Orphanet:289326]
subset: ordo_disease {source="Orphanet:289326"}
synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [OMIM:159580]
synonym: "ham" RELATED [MONDO:Lexical, OMIM:159580]
synonym: "ham/TSP" EXACT [Orphanet:289326]
synonym: "HTLV-1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208]
synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "HTLV-associated myelopathy" EXACT [DOID:321]
synonym: "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208]
synonym: "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "myelopathy, HTLV-1-associated" RELATED [MONDO:Lexical, OMIM:159580]
synonym: "myelopathy, HTLV-1-associated; ham" RELATED [OMIM:159580]
synonym: "tropical spastic paralysis" EXACT [DOID:321]
synonym: "tropical spastic paraparesis (formerly)" RELATED [GARD:0008208]
synonym: "tropical spastic paraplegia" EXACT [DOID:321]
synonym: "TSP" EXACT [Orphanet:289326]
xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"}
xref: EFO:0007527 {source="MONDO:equivalentTo"}
xref: GARD:0008208 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:G04.1 {source="ORDO:289326/e", source="Orphanet:289326", source="DOID:321"}
xref: ICD9:323.01 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044696 {source="ORDO:289326/e", source="Orphanet:289326"}
xref: MESH:D015493 {source="MONDO:equivalentTo", source="EFO:0007527", source="MONDO:ontobio", source="DOID:321"}
xref: OMIM:159580 {source="ORDO:289326/e", source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321"}
xref: Orphanet:289326 {source="MONDO:equivalentTo", source="OMIM:159580"}
xref: SCTID:714279000 {source="MONDO:equivalentTo", source="DOID:321", source="MONDO:kboom-pr-1.00/0.80/9.03"}
xref: UMLS:C0030481 {source="ORDO:289326/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="OMIM:159580"}
is_a: MONDO:0005801 ! human T-lymphotropic virus 1 infectious disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:289326", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system
property_value: closeMatch http://identifiers.org/snomedct/192733005
property_value: closeMatch http://identifiers.org/snomedct/45129002
property_value: exactMatch DOID:321
property_value: exactMatch http://identifiers.org/meddra/10044696
property_value: exactMatch http://identifiers.org/mesh/D015493
property_value: exactMatch http://identifiers.org/omim/159580
property_value: exactMatch http://identifiers.org/snomedct/714279000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030481
property_value: exactMatch Orphanet:289326

[Term]
id: MONDO:0008040
name: transient myeloproliferative syndrome (disease)
def: "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." [NCIT:P378]
subset: ordo_disease {source="Orphanet:420611"}
synonym: "leukemia, transient" RELATED [OMIM:159595]
synonym: "MST" EXACT [DOID:0060888]
synonym: "Mst" RELATED [OMIM:159595]
synonym: "myeloproliferative syndrome, transient" RELATED [OMIM:159595]
synonym: "TAM" EXACT [DOID:0060888]
synonym: "TMD" EXACT [Orphanet:420611]
synonym: "transient abnormal myelopoiesis" EXACT [DOID:0060888, OMIM:159595, Orphanet:420611]
synonym: "Transient abnormal myelopoiesis associated with Down syndrome" EXACT [NCIT:C82339]
synonym: "Transient abnormal myelopoiesis associated with Down syndrome" RELATED [NCIT:C82339]
synonym: "transient leukemia" EXACT [DOID:0060888]
synonym: "transient leurkemia of Down syndrome" EXACT [DOID:0060888]
synonym: "transient myeloproliferative disease" EXACT [DOID:0060888, Orphanet:420611]
synonym: "transient myeloproliferative disorder" EXACT [NCIT:C82339]
synonym: "transient myeloproliferative syndrome" EXACT [MONDO:ambiguous]
xref: DOID:0060888 {source="MONDO:equivalentTo"}
xref: GARD:0012765 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0005534 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D47.7 {source="ORDO:420611/ntbt", source="Orphanet:420611", source="DOID:0060888"}
xref: ICDO:9898/1 {source="NCIT:C82339"}
xref: MESH:C563551 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C82339 {source="MONDO:equivalentTo"}
xref: OMIM:159595 {source="ORDO:420611/e", source="MONDO:equivalentTo", source="Orphanet:420611", source="DOID:0060888"}
xref: ONCOTREE:TAM {source="MONDO:equivalentTo"}
xref: Orphanet:420611 {source="OMIM:159595", source="MONDO:equivalentTo", source="DOID:0060888"}
xref: SCTID:721307000 {source="MONDO:kboom-pr-1.00/0.91/29.04", source="MONDO:equivalentTo"}
xref: UMLS:C1834582 {source="MEDGEN:kboom-pr98-c99", source="OMIM:159595", source="NCIT:C82339", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:420611"}
is_a: MONDO:0020076 {source="DOID:0060888", source="Orphanet:420611"} ! myeloproliferative neoplasm
relationship: disease_arises_from_feature MONDO:0008608 ! Down syndrome
property_value: exactMatch DOID:0060888
property_value: exactMatch http://identifiers.org/mesh/C563551
property_value: exactMatch http://identifiers.org/omim/159595
property_value: exactMatch http://identifiers.org/snomedct/721307000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834582
property_value: exactMatch NCIT:C82339
property_value: exactMatch Orphanet:420611

[Term]
id: MONDO:0008041
name: myoclonic epilepsy, Hartung type
synonym: "myoclonic epilepsy, Hartung type" EXACT [OMIM:159600]
xref: MESH:C563550 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159600 {source="MONDO:equivalentTo"}
xref: UMLS:C1834581 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159600"}
is_a: MONDO:0016022 {source="DC-OMIM:159600"} ! early myoclonic encephalopathy
property_value: exactMatch http://identifiers.org/mesh/C563550
property_value: exactMatch http://identifiers.org/omim/159600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834581

[Term]
id: MONDO:0008042
name: myoclonus and ataxia
comment: Editor note: consider merging into MONDO:0008945
subset: speculative
synonym: "dentate cerebellar ataxia" RELATED [GARD:0009256]
synonym: "dentatorubral atrophy" RELATED [GARD:0009256]
synonym: "dyssynergia cerebellaris myoclonica" RELATED [https://www.ninds.nih.gov/Disorders/All-Disorders/Ramsay-Hunt-Syndrome-I-Information-Page]
synonym: "dyssynergia cerebellaris progressiva" RELATED [GARD:0009256]
synonym: "myoclonus and ataxia" EXACT [OMIM:159700]
synonym: "primary dentatum atrophy" RELATED [GARD:0009256]
synonym: "progressive myoclonus ataxia" RELATED [GARD:0009256]
synonym: "Ramsay Hunt syndrome" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Ramsay_Hunt_syndrome, OMIM:159700]
synonym: "Ramsay Hunt syndrome type 1" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Ramsay_Hunt_syndrome, OMIM:159700]
synonym: "Ramsay Hunt syndrome type 1 (formerly)" RELATED [GARD:0009256]
xref: GARD:0009256 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:159700 {source="MONDO:equivalentTo"}
xref: UMLS:C1834580 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159700"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_shares_features_of MONDO:0008945 ! myoclonic cerebellar dyssynergia
property_value: exactMatch http://identifiers.org/omim/159700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834580

[Term]
id: MONDO:0008043
name: myoclonus-cerebellar ataxia-deafness syndrome
def: "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." [Orphanet:2589]
subset: ordo_malformation_syndrome {source="Orphanet:2589"}
synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873]
synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800]
xref: GARD:0003873 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="ORDO:2589/attributed", source="ORDO:2589/ntbt", source="Orphanet:2589"}
xref: MESH:C563549 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159800 {source="ORDO:2589/e", source="MONDO:equivalentTo", source="Orphanet:2589"}
xref: Orphanet:2589 {source="MONDO:equivalentTo", source="OMIM:159800"}
xref: UMLS:C1834579 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2589", source="OMIM:159800"}
is_a: MONDO:0000557 {source="Orphanet:2589"} ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:2589"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C563549
property_value: exactMatch http://identifiers.org/omim/159800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834579
property_value: exactMatch Orphanet:2589

[Term]
id: MONDO:0008044
name: myoclonic dystonia 11
def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:36899"}
synonym: "alcohol-responsive dystonia" EXACT [Orphanet:36899]
synonym: "dystonia 11, myoclonic" RELATED [MONDO:Lexical, OMIM:159900]
synonym: "dystonia 11, myoclonic; DYT11" RELATED [OMIM:159900]
synonym: "dystonia, alcohol-responsive" RELATED [OMIM:159900]
synonym: "DYT11" RELATED [MONDO:Lexical, OMIM:159900]
synonym: "myoclonic dystonia" RELATED [OMIM:159900]
synonym: "myoclonic dystonia type 11" EXACT [DOID:0090034, MONDORULE:2]
synonym: "myoclonus, hereditary essential" RELATED [OMIM:159900]
synonym: "myoclonus-dystonia syndrome" RELATED [OMIM:159900]
synonym: "myoclonus-dystonia syndrome caused by mutation in SGCE" EXACT []
synonym: "SGCE myoclonus-dystonia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0090034 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="Orphanet:36899", source="DOID:0090034"}
xref: OMIM:159900 {source="Orphanet:36899", source="DOID:0090034", source="MONDO:equivalentTo"}
is_a: MONDO:0000903 {source="DOID:0090034"} ! myoclonus-dystonia syndrome
property_value: exactMatch DOID:0090034
property_value: exactMatch http://identifiers.org/omim/159900

[Term]
id: MONDO:0008045
name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome
def: "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." [Orphanet:2590]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2590"}
synonym: "hereditary myoclonus and progressive distal muscular atrophy" RELATED [GARD:0003044]
synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [Orphanet:2590]
synonym: "Jankovic Rivera syndrome" RELATED [GARD:0003044]
synonym: "Jankovic-Rivera syndrome" EXACT [Orphanet:2590]
synonym: "myoclonus hereditary progressive distal muscular atrophy" RELATED [GARD:0003875]
synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELATED [OMIM:159950]
synonym: "SMAPME" RELATED [MONDO:Lexical, OMIM:159950]
synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical, OMIM:159950]
synonym: "spinal muscular atrophy with progressive myoclonic epilepsy; SMAPME" RELATED [OMIM:159950]
xref: GARD:0003044 {source="MONDO:equivalentTo"}
xref: GARD:0003875 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G25.3 {source="ORDO:2590/attributed", source="ORDO:2590/ntbt", source="Orphanet:2590"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:159950 {source="MONDO:equivalentTo", source="ORDO:2590/e", source="Orphanet:2590", source="GARD:0003044"}
xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"}
xref: SCTID:703524005 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo"}
xref: UMLS:C1834569 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159950", source="ORDO:2590/e", source="Orphanet:2590", source="GARD:0003044"}
is_a: MONDO:0017655 {source="Orphanet:2590"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: exactMatch http://identifiers.org/mesh/C537563
property_value: exactMatch http://identifiers.org/omim/159950
property_value: exactMatch http://identifiers.org/snomedct/703524005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834569
property_value: exactMatch Orphanet:2590

[Term]
id: MONDO:0008046
name: autosomal dominant myoglobinuria
def: "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." [Orphanet:99846]
subset: ordo_disease {source="Orphanet:99846"}
synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010]
xref: ICD10:R82.1 {source="MONDO:subClassOf", source="Orphanet:99846", source="ORDO:99846/attributed", source="ORDO:99846/ntbt"}
xref: MESH:C563546 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:160010 {source="ORDO:99846/e", source="MONDO:equivalentTo", source="Orphanet:99846"}
xref: Orphanet:99846 {source="MONDO:equivalentTo", source="OMIM:160010"}
xref: SCTID:725903003 {source="MONDO:equivalentTo"}
xref: UMLS:C1834567 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99846", source="OMIM:160010"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000866 {source="DC-OMIM:160010", source="MESH:C563546", source="MONDO:Entailed", source="MONDO:Redundant"} ! myoglobinuria
is_a: MONDO:0016117 {source="Orphanet:99846"} ! muscular lipidosis
is_a: MONDO:0019602 {source="Orphanet:99846"} ! other inborn metabolic disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C563546
property_value: exactMatch http://identifiers.org/omim/160010
property_value: exactMatch http://identifiers.org/snomedct/725903003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834567
property_value: exactMatch Orphanet:99846

[Term]
id: MONDO:0008047
name: episodic ataxia type 1
def: "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." [Orphanet:37612]
subset: ordo_disease {source="Orphanet:37612"}
synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120]
synonym: "continuous muscle fiber activity" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "continuous muscle fiber activity, hereditary" RELATED [OMIM:160120]
synonym: "EA1" RELATED [MONDO:Lexical, OMIM:160120]
synonym: "episodic ataxia with myokymia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120, Orphanet:37612]
synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120]
synonym: "episodic ataxia, type 1; EA1" RELATED [OMIM:160120]
synonym: "familial paroxysmal kinesigenic ataxia and continuous myokymia" EXACT []
synonym: "hereditary episodic ataxia caused by mutation in KCNA1" EXACT [MONDO:design_pattern]
synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "Isaacs-Mertens syndrome" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120]
synonym: "KCNA1 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myokymia 1" RELATED [OMIM:160120]
synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120]
synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120]
synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120]
xref: DOID:0050989 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:37612/attributed", source="ORDO:37612/ntbt", source="Orphanet:37612"}
xref: OMIM:160120 {source="MONDO:equivalentTo", source="DOID:0050989", source="ORDO:37612/e", source="Orphanet:37612"}
xref: Orphanet:37612 {source="MONDO:equivalentTo", source="OMIM:160120"}
xref: SCTID:421182009 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C1719788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160120", source="ORDO:37612/e", source="Orphanet:37612"}
xref: UMLS:CN042654 {source="MONDO:equivalentTo"}
is_a: MONDO:0016227 {source="DOID:0050989", source="MONDO:Redundant", source="OMIM:160120", source="Orphanet:37612", source="linkedlifedata"} ! hereditary episodic ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242287
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674766
property_value: exactMatch DOID:0050989
property_value: exactMatch http://identifiers.org/omim/160120
property_value: exactMatch http://identifiers.org/snomedct/421182009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1719788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN042654
property_value: exactMatch Orphanet:37612

[Term]
id: MONDO:0008048
name: autosomal dominant centronuclear myopathy
def: "Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169189]
subset: gard_rare {source="GARD:0012719"}
subset: ordo_disease {source="Orphanet:169189"}
subset: prototype_pattern
synonym: "AD-CNM" EXACT [Orphanet:169189]
synonym: "centronuclear myopathy 1" EXACT [NCIT:C126689]
synonym: "centronuclear myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "CNM1" RELATED [MONDO:Lexical, OMIM:160150]
synonym: "DNM2-related centronuclear myopathy" RELATED [GARD:0012719]
synonym: "myopathy, centronuclear, 1" RELATED [GARD:0012719, MONDO:Lexical, OMIM:160150]
synonym: "myopathy, centronuclear, 1; CNM1" RELATED [OMIM:160150]
synonym: "myopathy, centronuclear, autosomal dominant" RELATED [OMIM:160150]
synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1, OMIM:160150]
synonym: "myotubular myopathy, autosomal dominant" RELATED [OMIM:160150]
xref: GARD:0012719 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:169189", source="ORDO:169189/attributed", source="ORDO:169189/ntbt"}
xref: NCIT:C126689 {source="MONDO:equivalentTo"}
xref: OMIM:160150 {source="Orphanet:169189", source="MONDO:equivalentTo", source="ORDO:169189/e"}
xref: Orphanet:169189 {source="MONDO:equivalentTo", source="OMIM:160150"}
xref: SCTID:716696006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1834558 {source="Orphanet:169189", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160150"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0002921 {source="NCIT:C126689", source="OMIM:160150"} ! congenital structural myopathy
is_a: MONDO:0018947 {source="DC-OMIM:160150", source="MONDO:Redundant", source="OMIM:160150", source="Orphanet:169189", source="linkedlifedata"} ! centronuclear myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/160150
property_value: exactMatch http://identifiers.org/snomedct/716696006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834558
property_value: exactMatch NCIT:C126689
property_value: exactMatch Orphanet:169189
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy xsd:anyURI {source="GARD:0012719"}

[Term]
id: MONDO:0008049
name: myopathy, distal, infantile-onset
synonym: "myopathy, distal, infantile-onset" EXACT [OMIM:160300]
xref: DOID:0070196 {source="MONDO:equivalentTo"}
xref: OMIM:160300 {source="MONDO:equivalentTo"}
xref: UMLS:C1834556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160300"}
xref: UMLS:C4011725 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018949 {source="DC-OMIM:160300"} ! distal myopathy
property_value: exactMatch DOID:0070196
property_value: exactMatch http://identifiers.org/omim/160300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011725

[Term]
id: MONDO:0008050
name: Laing early-onset distal myopathy
def: "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." [Orphanet:59135]
subset: ordo_disease {source="Orphanet:59135"}
synonym: "distal myopathy type 1" EXACT [Orphanet:59135]
synonym: "Gowers disease" EXACT [Orphanet:59135]
synonym: "Laing distal myopathy" EXACT [OMIM:160500]
synonym: "MPD1" EXACT [MONDO:Lexical, OMIM:160500, Orphanet:59135]
synonym: "MYH7-related skeletal myopathy" EXACT [https://clinicalgenome.org/affiliation/40031/, PMID:22918376, PMID:24664454]
synonym: "myopathy distal, type 1" RELATED [GARD:0010769]
synonym: "myopathy, distal, 1" RELATED [MONDO:Lexical, OMIM:160500]
synonym: "myopathy, distal, 1; MPD1" RELATED [OMIM:160500]
synonym: "myopathy, distal, early-onset, autosomal dominant" RELATED [OMIM:160500]
synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1, OMIM:160500]
synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500]
synonym: "myosin storage myopathy" EXACT [PMID:22918376, PMID:24664454]
xref: DOID:0070197 {source="MONDO:equivalentTo"}
xref: GARD:0010769 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:59135/attributed", source="ORDO:59135/ntbt", source="Orphanet:59135"}
xref: OMIM:160500 {source="MONDO:equivalentTo", source="ORDO:59135/e", source="Orphanet:59135"}
xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"}
xref: SCTID:764859001 {source="MONDO:equivalentTo"}
xref: UMLS:CN074249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016195 {source="Orphanet:59135"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0018949 {source="DC-OMIM:160500", source="MONDO:Redundant", source="Orphanet:59135"} ! distal myopathy
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221054
property_value: exactMatch DOID:0070197
property_value: exactMatch http://identifiers.org/omim/160500
property_value: exactMatch http://identifiers.org/snomedct/764859001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074249
property_value: exactMatch Orphanet:59135

[Term]
id: MONDO:0008051
name: tubular aggregate myopathy
def: "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures . This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." [https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy]
subset: gard_rare {source="GARD:0003884"}
subset: ordo_disease {source="Orphanet:2593"}
subset: prototype_pattern
synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical, OMIM:160565]
synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1, OMIM:160565]
synonym: "TAM1" RELATED [MONDO:Lexical, OMIM:160565]
xref: DOID:0080089 {source="MONDO:equivalentTo"}
xref: GARD:0003884 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:2593/attributed", source="ORDO:2593/ntbt", source="Orphanet:2593"}
xref: OMIMPS:160565 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:2593"} ! congenital myopathy
property_value: exactMatch DOID:0080089
property_value: exactMatch Orphanet:2593
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy xsd:anyURI {source="GARD:0003884"}

[Term]
id: MONDO:0008052
name: myopathy with storage of glycoproteins and Glycosaminoglycans
synonym: "myopathy with storage of glycoproteins and Glycosaminoglycans" EXACT [OMIM:160570]
xref: MESH:C563542 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:160570 {source="MONDO:equivalentTo"}
xref: UMLS:C1834532 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160570"}
is_a: MONDO:0003847 {source="MESH:C563542/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563542
property_value: exactMatch http://identifiers.org/omim/160570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834532

[Term]
id: MONDO:0008053
name: MYP2
synonym: "myopia 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:160700]
synonym: "myopia 2, autosomal dominant; MYP2" RELATED [OMIM:160700]
synonym: "MYP2" EXACT [MONDO:Lexical, OMIM:160700]
xref: MESH:C563541 {source="MONDO:equivalentTo"}
xref: OMIM:160700 {source="MONDO:equivalentTo"}
xref: UMLS:C1834531 {source="OMIM:160700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:160700", source="MESH:C563541", source="OMIM:160700"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563541
property_value: exactMatch http://identifiers.org/omim/160700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834531

[Term]
id: MONDO:0008054
name: juvenile dermatomyositis
def: "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." [Orphanet:93672]
subset: gard_rare {source="GARD:0006805"}
subset: ordo_disease {source="Orphanet:93672"}
synonym: "childhood dermatomyositis" EXACT [DOID:14203, NCIT:C27576]
synonym: "childhood type dermatomyositis" RELATED [DOID:14203]
synonym: "inflammation of myoseptum" EXACT []
synonym: "JDM" RELATED [GARD:0006805]
synonym: "JPM" RELATED [GARD:0006805]
synonym: "juvenile dermatomyositis" EXACT [DOID:14203, MONDO:0005054]
synonym: "juvenile DM" EXACT [Orphanet:93672]
synonym: "juvenile myositis" RELATED [GARD:0006805]
synonym: "myopathy, familial idiopathic inflammatory" RELATED [OMIM:160750]
synonym: "myoseptum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "myoseptumitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "myositis" RELATED [OMIM:160750]
xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"}
xref: EFO:0000557 {source="MONDO:equivalentTo"}
xref: GARD:0006805 {source="MONDO:equivalentTo"}
xref: ICD10:M33.0 {source="ORDO:93672/e", source="Orphanet:93672"}
xref: MedDRA:10008521 {source="ORDO:93672/e", source="Orphanet:93672"}
xref: MESH:C000598745 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27576 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:160750 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo", source="GARD:0006805"}
xref: Orphanet:93672 {source="MONDO:equivalentTo", source="GARD:0006805"}
xref: SCTID:1212005 {source="MONDO:kboom-pr-0.72/0.42/0.06", source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"}
xref: UMLS:C2931785 {source="ORDO:93672/e", source="Orphanet:93672", source="NCIT:C27576", source="MONDO:equivalentTo", source="OMIM:160750"}
is_a: MONDO:0016367 {source="DOID:14203", source="EFO:0000557", source="MESH:C000598745", source="MONDO:cjm", source="MONDOLEX:0008054", source="NCIT:C27576", source="linkedlifedata"} ! dermatomyositis
is_a: MONDO:0017021 {source="Orphanet:93672"} ! secondary interstitial lung disease specific to childhood associated with a connective tissue disease
is_a: MONDO:0018010 {source="Orphanet:93672"} ! juvenile idiopathic inflammatory myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027121
property_value: exactMatch DOID:14203
property_value: exactMatch http://identifiers.org/meddra/10008521
property_value: exactMatch http://identifiers.org/mesh/C000598745
property_value: exactMatch http://identifiers.org/mesh/C538250
property_value: exactMatch http://identifiers.org/omim/160750
property_value: exactMatch http://identifiers.org/snomedct/1212005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931785
property_value: exactMatch NCIT:C27576
property_value: exactMatch Orphanet:93672
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis xsd:anyURI {source="GARD:0006805"}

[Term]
id: MONDO:0008055
name: myotonia congenita, autosomal dominant
synonym: "myotonia congenita, autosomal dominant" EXACT [OMIM:160800]
synonym: "myotonia Levior" RELATED [OMIM:160800]
synonym: "Thomsen disease" RELATED [OMIM:160800]
xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:160800 {source="MONDO:equivalentTo"}
xref: SCTID:8960007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
is_a: MONDO:0009710 {source="DC-OMIM:160800", source="MONDOLEX:0008055", source="OMIM:160800"} ! myotonia congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270959
property_value: exactMatch http://identifiers.org/omim/160800
property_value: exactMatch http://identifiers.org/snomedct/8960007

[Term]
id: MONDO:0008056
name: myotonic dystrophy type 1
def: "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." [Orphanet:273]
subset: ordo_disease {source="Orphanet:273"}
synonym: "congenital myotonic dystrophy" EXACT EXCLUDE [DOID:11722]
synonym: "DM1" EXACT [Orphanet:273]
synonym: "DM1" RELATED [MONDO:Lexical, OMIM:160900]
synonym: "DMPK myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystrophia myotonica" EXACT [DOID:11722, OMIM:160900]
synonym: "dystrophia myotonica 1" RELATED [OMIM:160900]
synonym: "dystrophia myotonica type 1" RELATED [GARD:0008310]
synonym: "MD1" EXACT [Orphanet:273]
synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical, OMIM:160900]
synonym: "myotonic dystrophy 1; DM1" RELATED [OMIM:160900]
synonym: "myotonic dystrophy caused by mutation in DMPK" EXACT [MONDO:design_pattern]
synonym: "myotonic dystrophy of Steinert" EXACT [DOID:11722]
synonym: "myotonic dystrophy type 1" EXACT [MONDORULE:1, OMIM:160900, Orphanet:273]
synonym: "Steinert disease" EXACT [DOID:11722, OMIM:160900, Orphanet:273]
synonym: "Steinert myotonic dystrophy" RELATED [Orphanet:273]
synonym: "Steinert myotonic dystrophy syndrome" EXACT [NCIT:C84679]
synonym: "Steinert syndrome" EXACT [NCIT:C84679]
synonym: "Steinert's disease" RELATED [GARD:0008310]
xref: DOID:11722 {source="MONDO:equivalentTo"}
xref: GARD:0008310 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.1 {source="ORDO:273/ntbt", source="Orphanet:273", source="ORDO:273/inclusion"}
xref: ICD10:G71.11 {source="DOID:11722"}
xref: ICD9:359.21 {source="DOID:11722"}
xref: NCIT:C84679 {source="MONDO:equivalentTo"}
xref: OMIM:160900 {source="DOID:11722", source="MONDO:equivalentTo", source="ORDO:273/e", source="Orphanet:273"}
xref: Orphanet:273 {source="OMIM:160900", source="MONDO:equivalentTo"}
is_a: MONDO:0016107 {source="DC-OMIM:160900", source="DOID:11722", source="MONDO:Redundant", source="NCIT:C84679", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy
is_a: MONDO:0016329 {source="Orphanet:273"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020016 {source="Orphanet:273"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020169 {source="Orphanet:273"} ! rare disorder with ptosis
is_a: MONDO:0020232 {source="Orphanet:273"} ! musculoskeletal disease with cataract
is_a: MONDO:0020259 {source="MONDO:Redundant", source="Orphanet:273"} ! myopathy with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/155096007
property_value: closeMatch http://identifiers.org/snomedct/267713009
property_value: closeMatch http://identifiers.org/snomedct/77956009
property_value: exactMatch DOID:11722
property_value: exactMatch http://identifiers.org/mesh/C538008
property_value: exactMatch http://identifiers.org/omim/160900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931688
property_value: exactMatch NCIT:C84679
property_value: exactMatch Orphanet:273

[Term]
id: MONDO:0008057
name: Carney complex, type 1
def: "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern]
synonym: "Carney complex, type 1" EXACT [MONDO:Lexical, OMIM:160980]
synonym: "Carney complex, type 1; CNC1" RELATED [OMIM:160980]
synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980]
synonym: "Carney syndrome" RELATED [OMIM:160980]
synonym: "CNC1" RELATED [MONDO:Lexical, OMIM:160980]
synonym: "lamb syndrome" RELATED [OMIM:160980]
synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980]
synonym: "name syndrome" RELATED [OMIM:160980]
synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:160980 {source="MONDO:equivalentTo"}
is_a: MONDO:0015285 {source="DC-OMIM:160980", source="MONDO:Redundant"} ! Carney complex
property_value: exactMatch http://identifiers.org/omim/160980

[Term]
id: MONDO:0008058
name: cylindrical spirals myopathy
def: "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." [Orphanet:171886]
subset: gard_rare {source="GARD:0011906"}
subset: ordo_disease {source="Orphanet:171886"}
synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990]
xref: DOID:0080103 {source="MONDO:equivalentTo"}
xref: GARD:0011906 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:171886", source="ORDO:171886/attributed", source="ORDO:171886/ntbt"}
xref: MESH:C563535 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"}
xref: Orphanet:171886 {source="MONDO:equivalentTo"}
xref: SCTID:764525006 {source="MONDO:equivalentTo"}
xref: UMLS:C1834418 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160990"}
is_a: MONDO:0019952 {source="DOID:0080103", source="Orphanet:171886"} ! congenital myopathy
property_value: exactMatch DOID:0080103
property_value: exactMatch http://identifiers.org/mesh/C563535
property_value: exactMatch http://identifiers.org/omim/160990
property_value: exactMatch http://identifiers.org/snomedct/764525006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834418
property_value: exactMatch Orphanet:171886
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy xsd:anyURI {source="GARD:0011906"}

[Term]
id: MONDO:0008059
name: Naegeli-Franceschetti-Jadassohn syndrome
def: "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." [Orphanet:69087]
subset: ordo_disease {source="Orphanet:69087"}
synonym: "NAEGELI syndrome" RELATED [OMIM:161000]
synonym: "Naegeli syndrome" EXACT [Orphanet:69087]
synonym: "Naegeli-Franceschetti-Jadassohn syndrome" EXACT [OMIM:161000]
synonym: "NAEGELI-Franceschetti-Jadassohn syndrome; NFJS" RELATED [OMIM:161000]
synonym: "NFJ syndrome" EXACT [Orphanet:69087]
synonym: "Nfj syndrome" RELATED [OMIM:161000]
synonym: "NFJS" RELATED [GARD:0003912, OMIM:161000]
synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912]
xref: GARD:0003912 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="ORDO:69087/attributed", source="ORDO:69087/ntbt", source="Orphanet:69087"}
xref: MESH:C538331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161000 {source="ORDO:69087/e", source="MONDO:equivalentTo", source="Orphanet:69087"}
xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"}
xref: SCTID:239084001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343111 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69087", source="OMIM:161000"}
is_a: MONDO:0019287 {source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:69087", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
is_a: MONDO:0020094 {source="Orphanet:69087"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C538331
property_value: exactMatch http://identifiers.org/omim/161000
property_value: exactMatch http://identifiers.org/snomedct/239084001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343111
property_value: exactMatch Orphanet:69087

[Term]
id: MONDO:0008060
name: nonsyndromic congenital nail disorder 1
def: "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." [Orphanet:79153]
subset: ordo_disease {source="Orphanet:79153", source="Orphanet:280654"}
synonym: "autosomal dominant nail dysplasia" RELATED [Orphanet:79153]
synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654]
synonym: "claw-Shaped nails" RELATED [OMIM:614157]
synonym: "FZD6 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "idiopathic trachyonychia" RELATED [Orphanet:79153]
synonym: "inherited isolated nail anomaly caused by mutation in FZD6" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital 1" RELATED [GARD:0010363]
synonym: "nail disorder, nonsyndromic congenital, 1" RELATED [MONDO:Lexical, OMIM:161050]
synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical, OMIM:614157]
synonym: "nail disorder, nonsyndromic congenital, 10; NDNC10" RELATED [OMIM:614157]
synonym: "nail disorder, nonsyndromic congenital, 1; NDNC1" RELATED [OMIM:161050]
synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2, OMIM:614157]
synonym: "nail Growth" RELATED [OMIM:161050]
synonym: "NDNC1" RELATED [MONDO:Lexical, OMIM:161050]
synonym: "NDNC10" RELATED [MONDO:Lexical, OMIM:614157]
synonym: "nonsyndromic congenital nail disorder 10" EXACT [MONDO:0013596]
synonym: "nonsyndromic congenital nail disorder type 1" EXACT [DOID:0080079, MONDORULE:1]
synonym: "nonsyndromic congenital nail disorder type 10" EXACT [DOID:0080088, MONDORULE:2]
synonym: "onychauxis, hyponychia, and onycholysis" RELATED [OMIM:614157]
synonym: "onychodystrophy totalis" EXACT [Orphanet:79153]
synonym: "onychodystrophy totalis, isolated" RELATED [OMIM:161050]
synonym: "sandpaper nails" RELATED [GARD:0010363]
synonym: "trachyonychia" RELATED [GARD:0010363]
synonym: "twenty nail dystrophy" RELATED [GARD:0010363]
synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:79153]
xref: DOID:0080079 {source="MONDO:equivalentTo"}
xref: DOID:0080088 {source="MONDO:obsoleteEquivalent"}
xref: GARD:0010363 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L60.3 {source="ORDO:79153/attributed", source="ORDO:79153/ntbt", source="Orphanet:79153"}
xref: ICD10:Q84.6 {source="Orphanet:280654", source="ORDO:280654/attributed", source="ORDO:280654/ntbt"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562907 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161050 {source="DOID:0080079", source="MONDO:equivalentTo", source="ORDO:79153/e", source="Orphanet:79153"}
xref: OMIM:614157 {source="DOID:0080088", source="MONDO:obsoleteEquivalent", source="Orphanet:280654", source="ORDO:280654/e"}
xref: Orphanet:280654 {source="OMIM:614157", source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79153 {source="MONDO:equivalentTo", source="OMIM:161050"}
xref: SCTID:238719003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.55"}
xref: UMLS:C0406443 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161050", source="Orphanet:79153"}
xref: UMLS:C3279974 {source="OMIM:614157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019284 {source="DC-OMIM:161050", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423801
property_value: exactMatch DOID:0080079
property_value: exactMatch DOID:0080088
property_value: exactMatch http://identifiers.org/mesh/C562907
property_value: exactMatch http://identifiers.org/omim/161050
property_value: exactMatch http://identifiers.org/omim/614157
property_value: exactMatch http://identifiers.org/snomedct/238719003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279974
property_value: exactMatch Orphanet:280654
property_value: exactMatch Orphanet:79153

[Term]
id: MONDO:0008061
name: nail-patella syndrome
def: "Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." [Orphanet:2614]
subset: gard_rare {source="GARD:0007160"}
subset: ordo_malformation_syndrome {source="Orphanet:2614"}
synonym: "Arthro-onychodysplasia" RELATED [GARD:0007160]
synonym: "Fong disease" EXACT [DOID:9467]
synonym: "hereditary onychoostedysplasia" EXACT [DOID:9467]
synonym: "hereditary Osteo-onychodysplasia" EXACT [NCIT:C75120]
synonym: "iliac horn syndrome" EXACT [DOID:9467]
synonym: "nail patella syndrome" EXACT [CSP2005:0726-3953, DOID:9467]
synonym: "nail-patella syndrome" EXACT [MONDO:Lexical, OMIM:161200]
synonym: "nail-patella syndrome; NPS" RELATED [OMIM:161200]
synonym: "NPS" RELATED [MONDO:Lexical, OMIM:161200]
synonym: "NPS 1" RELATED [GARD:0007160]
synonym: "Nps1" RELATED [OMIM:161200]
synonym: "Onychoosteodysplasia" EXACT [OMIM:161200, Orphanet:2614]
synonym: "Osteo-onychodysplasia" RELATED [GARD:0007160]
synonym: "Turner-Kieser syndrome" EXACT [OMIM:161200, Orphanet:2614]
synonym: "Turner-Kiser syndrome" EXACT [DOID:9467]
xref: DOID:9467 {source="MONDO:equivalentTo"}
xref: GARD:0007160 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:2614/ntbt", source="Orphanet:2614", source="DOID:9467", source="ORDO:2614/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063431 {source="Orphanet:2614", source="ORDO:2614/e"}
xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="ORDO:2614/e", source="MONDO:ontobio", source="DOID:9467"}
xref: NCIT:C75120 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:9467"}
xref: OMIM:161200 {source="MONDO:equivalentTo", source="Orphanet:2614", source="ORDO:2614/e", source="DOID:9467"}
xref: Orphanet:2614 {source="MONDO:equivalentTo", source="OMIM:161200"}
xref: SCTID:22199006 {source="MONDO:equivalentTo", source="DOID:9467", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0027341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75120", source="Orphanet:2614", source="ORDO:2614/e", source="OMIM:161200", source="DOID:9467"}
is_a: MONDO:0000426 {source="DOID:9467", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015163 {source="Orphanet:2614"} ! primary glomerular disease
is_a: MONDO:0019285 {source="Orphanet:2614"} ! syndromic nail anomaly
is_a: MONDO:0019712 {source="Orphanet:2614"} ! patellar dysostosis
is_a: MONDO:0020274 {source="Orphanet:2614"} ! onycho-patellar syndrome with eye involvement
property_value: exactMatch DOID:9467
property_value: exactMatch http://identifiers.org/meddra/10063431
property_value: exactMatch http://identifiers.org/mesh/D009261
property_value: exactMatch http://identifiers.org/omim/161200
property_value: exactMatch http://identifiers.org/snomedct/22199006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027341
property_value: exactMatch NCIT:C75120
property_value: exactMatch Orphanet:2614
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome xsd:anyURI {source="GARD:0007160"}

[Term]
id: MONDO:0008062
name: narcolepsy 1
def: "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." [NCIT:C84618]
synonym: "cataplexy" RELATED [OMIM:161400]
synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400]
synonym: "narcolepsy 1; NRCLP1" RELATED [OMIM:161400]
synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern]
synonym: "narcolepsy type 1" EXACT [MONDORULE:1, OMIM:161400]
synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400]
synonym: "NRCLP1" RELATED [MONDO:Lexical, OMIM:161400]
xref: NCIT:C84618 {source="MONDO:equivalentTo"}
xref: OMIM:161400 {source="MONDO:equivalentTo"}
xref: SCTID:46263000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.73"}
xref: UMLS:C1834372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161400"}
is_a: MONDO:0016158 {source="MONDOLEX:0008062", source="ORDO:2073/btnt"} ! narcolepsy-cataplexy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007384
property_value: exactMatch http://identifiers.org/omim/161400
property_value: exactMatch http://identifiers.org/snomedct/46263000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834372
property_value: exactMatch NCIT:C84618

[Term]
id: MONDO:0008063
name: nasal alar collapse, bilateral
synonym: "nasal alar collapse, bilateral" EXACT [OMIM:161470]
xref: MESH:C563533 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161470 {source="MONDO:equivalentTo"}
xref: UMLS:C1834371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161470"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563533
property_value: exactMatch http://identifiers.org/omim/161470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834371

[Term]
id: MONDO:0008064
name: nasal bones, absence of
synonym: "nasal bones, absence of" EXACT [OMIM:161480]
xref: MESH:C562753 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161480 {source="MONDO:equivalentTo"}
xref: UMLS:C4082198 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339851
property_value: exactMatch http://identifiers.org/mesh/C562753
property_value: exactMatch http://identifiers.org/omim/161480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082198

[Term]
id: MONDO:0008065
name: nasal groove, familial transverse
synonym: "nasal groove, familial transverse" EXACT [OMIM:161500]
xref: OMIM:161500 {source="MONDO:equivalentTo"}
xref: UMLS:C1834370 {source="OMIM:161500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/161500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834370

[Term]
id: MONDO:0008066
name: nasal hyperpigmentation, familial transverse
synonym: "nasal hyperpigmentation, familial transverse" EXACT [OMIM:161530]
xref: OMIM:161530 {source="MONDO:equivalentTo"}
xref: UMLS:C1834369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161530"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/161530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834369

[Term]
id: MONDO:0008067
name: nasopharyngeal carcinoma, susceptibility to, 2
subset: predisposition
synonym: "nasopharyngeal carcinoma, susceptibility to, 2" EXACT [OMIM:161550]
synonym: "nasopharyngeal carcinoma, susceptibility to, 2; NPCA2" RELATED [OMIM:161550]
synonym: "nasopharyngeal carcinoma, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:161550]
synonym: "Npca2" RELATED [OMIM:161550]
xref: GARD:0007163 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:161550 {source="MONDO:equivalentTo"}
xref: UMLS:C2750548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161550"}
is_a: MONDO:0015459 {source="DC-OMIM:161550", source="MONDOLEX:0008067"} ! nasopharyngeal carcinoma
property_value: exactMatch http://identifiers.org/omim/161550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750548

[Term]
id: MONDO:0008068
name: navicular bone, accessory
synonym: "navicular bone, accessory" EXACT [OMIM:161600]
xref: GARD:0008543 {source="MONDO:equivalentTo"}
xref: MESH:C536002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1267087
property_value: exactMatch http://identifiers.org/mesh/C536002
property_value: exactMatch http://identifiers.org/omim/161600

[Term]
id: MONDO:0008069
name: necrotizing encephalomyelopathy, subacute, of Leigh, adult
synonym: "Leigh syndrome, adult" RELATED [OMIM:161700]
synonym: "necrotizing encephalomyelopathy, subacute, of Leigh, adult" EXACT [OMIM:161700]
xref: MESH:C563530 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161700 {source="MONDO:equivalentTo"}
xref: UMLS:C1834340 {source="OMIM:161700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009723 {source="MESH:C563530"} ! Leigh syndrome
property_value: exactMatch http://identifiers.org/mesh/C563530
property_value: exactMatch http://identifiers.org/omim/161700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834340

[Term]
id: MONDO:0008070
name: nemaline myopathy 3
def: "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129870]
synonym: "ACTA1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, actin, congenital, with cores" RELATED [OMIM:161800]
synonym: "myopathy, actin, congenital, with Excess of thin myofilaments" RELATED [OMIM:161800]
synonym: "NEM3" EXACT [DOID:0110927, MONDO:Lexical, OMIM:161800]
synonym: "nemaline myopathy 3" EXACT [MONDO:Lexical, OMIM:161800]
synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [DOID:0110927]
synonym: "nemaline myopathy 3, with intranuclear rods" RELATED [OMIM:161800]
synonym: "nemaline myopathy 3; NEM3" RELATED [OMIM:161800]
synonym: "nemaline myopathy caused by mutation in ACTA1" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 3" EXACT [DOID:0110927, MONDORULE:1, OMIM:161800]
xref: DOID:0110927 {source="MONDO:equivalentTo"}
xref: MESH:C580202 {source="MONDO:equivalentTo"}
xref: NCIT:C129870 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:161800 {source="MONDO:equivalentTo", source="DOID:0110927"}
xref: SCTID:702349003 {source="MONDO:equivalentTo"}
xref: UMLS:CN187050 {source="MONDO:equivalentTo"}
is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834336
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834339
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750536
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750537
property_value: exactMatch DOID:0110927
property_value: exactMatch http://identifiers.org/mesh/C580202
property_value: exactMatch http://identifiers.org/omim/161800
property_value: exactMatch http://identifiers.org/snomedct/702349003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN187050
property_value: exactMatch NCIT:C129870

[Term]
id: MONDO:0008071
name: autosomal dominant progressive nephropathy with hypertension
subset: ordo_disease {source="Orphanet:88659"}
synonym: "nephritis, familial, without deafness or ocular defect" RELATED [OMIM:161900]
synonym: "nephropathy, familial" RELATED [OMIM:161900]
synonym: "renal failure, adult-onset" RELATED [OMIM:161900]
synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900]
synonym: "renal failure, progressive, with hypertension; RFH1" RELATED [OMIM:161900]
synonym: "RFH1" RELATED [MONDO:Lexical, OMIM:161900]
xref: ICD10:I15.1 {source="Orphanet:88659", source="ORDO:88659/attributed", source="ORDO:88659/ntbt"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562889 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:161900 {source="ORDO:88659/e", source="MONDO:equivalentTo", source="Orphanet:88659"}
xref: Orphanet:88659 {source="OMIM:161900", source="MONDO:equivalentTo"}
xref: SCTID:703310005 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0403443 {source="NCBI:mim2gene_medline", source="OMIM:161900", source="MONDO:equivalentTo"}
xref: UMLS:C3839782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015512 {source="Orphanet:88659"} ! genetic hypertension
property_value: exactMatch http://identifiers.org/mesh/C562889
property_value: exactMatch http://identifiers.org/omim/161900
property_value: exactMatch http://identifiers.org/snomedct/703310005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839782
property_value: exactMatch Orphanet:88659

[Term]
id: MONDO:0008072
name: IGAN1
subset: predisposition
synonym: "berger disease" RELATED [OMIM:161950]
synonym: "glomerulonephritis, IgA" RELATED [GARD:0000863]
synonym: "IgA nephropathy, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:161950]
synonym: "IgA nephropathy, susceptibility to, 1; IGAN1" RELATED [OMIM:161950]
synonym: "Igan" RELATED [OMIM:161950]
synonym: "IGAN1" EXACT [MONDO:Lexical, OMIM:161950]
synonym: "nephritis, IgA type" RELATED [OMIM:161950]
xref: GARD:0000863 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:161950 {source="MONDO:equivalentTo"}
is_a: MONDO:0005342 {source="DC-OMIM:161950", source="MONDOLEX:0008072", source="OMIM:161950"} ! IgA glomerulonephritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160719
property_value: closeMatch Orphanet:34145
property_value: exactMatch http://identifiers.org/omim/161950

[Term]
id: MONDO:0008073
name: familial juvenile hyperuricemic nephropathy type 1
def: "Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." [Orphanet:209886]
subset: gard_rare
subset: ordo_disease {source="Orphanet:209886"}
subset: prototype_pattern
synonym: "familial juvenile gouty nephropathy" BROAD [Orphanet:209886]
synonym: "familial juvenile hyperuricaemic nephropathy" RELATED [GARD:0006806]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" EXACT [MONDO:design_pattern]
synonym: "familial nephropathy with gout" BROAD [Orphanet:209886]
synonym: "FJHN type 1" EXACT [Orphanet:209886]
synonym: "gouty nephropathy, familial juvenile" BROAD [OMIM:162000]
synonym: "HNFJ1" EXACT [OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile" BROAD [OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile 1" EXACT []
synonym: "hyperuricemic nephropathy, familial juvenile, 1" EXACT [MONDO:Lexical, OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile, 1; HNFJ1" EXACT [OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1, OMIM:162000]
synonym: "nephropathy, familial, with gout" BROAD [OMIM:162000]
synonym: "UMOD familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:209886]
synonym: "UMOD-associated FJHN" EXACT [Orphanet:209886]
synonym: "UMOD-related kidney disease" EXACT [GARD:0006806]
synonym: "uromodulin storage disease" EXACT []
synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806]
xref: GARD:0006806 {source="MONDO:equivalentTo"}
xref: OMIM:162000 {source="MONDO:equivalentTo", source="GARD:0006806", source="Orphanet:209886", source="ORDO:209886/e"}
xref: Orphanet:209886 {source="MONDO:equivalentTo", source="GARD:0006806", source="OMIM:162000"}
xref: UMLS:CN239214 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000608 {source="DC-OMIM:162000", source="MONDO:Redundant", source="MONDOLEX:0008073", source="OMIM:162000"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0019236 {source="Orphanet:209886"} ! inborn disorder of purine metabolism
is_a: MONDO:0019741 {source="Orphanet:209886"} ! familial cystic renal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268113
property_value: exactMatch http://identifiers.org/omim/162000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239214
property_value: exactMatch Orphanet:209886
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy xsd:anyURI {source="GARD:0006806"}

[Term]
id: MONDO:0008074
name: nerve growth factor, alpha subunit
synonym: "nerve growth factor, alpha subunit" EXACT [MONDO:Lexical, OMIM:162020]
synonym: "nerve growth factor, ALPHA SUBUNIT; NGFA" EXACT [OMIM:162020]
synonym: "NGFA" EXACT [MONDO:Lexical, OMIM:162020]
xref: OMIM:162020 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752316
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887786
property_value: exactMatch http://identifiers.org/omim/162020

[Term]
id: MONDO:0008075
name: neurofibromatosis type 3
def: "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." [Orphanet:93921]
subset: ordo_disease {source="Orphanet:93921"}
synonym: "congenital cutaneous neurilemmomatosis" RELATED [GARD:0004768]
synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, https://en.wikipedia.org/wiki/Schwannomatosis, Orphanet:93921]
synonym: "neurilemmomatosis congenital cutaneous" RELATED [GARD:0004768]
synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091]
synonym: "neurinoma" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Schwannomatosis]
synonym: "Neurinomatosis" EXACT [NCIT:C6557]
synonym: "NF3" EXACT [Orphanet:93921]
synonym: "Schwannomatosis" EXACT [Orphanet:93921]
synonym: "schwannomatosis" EXACT [MONDO:0002557]
xref: DOID:3204 {source="MONDO:equivalentTo"}
xref: GARD:0004768 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q85.0 {source="ORDO:93921/attributed", source="ORDO:93921/ntbt", source="Orphanet:93921"}
xref: ICD10:Q85.03 {source="DOID:3204"}
xref: ICD9:237.73 {source="DOID:3204"}
xref: ICDO:9560/1 {source="NCIT:C6557"}
xref: NCIT:C6557 {source="MONDO:equivalentTo", source="DOID:3204"}
xref: OMIMPS:162091 {source="MONDO:equivalentTo"}
xref: Orphanet:93921 {source="OMIM:162091", source="MONDO:equivalentTo"}
xref: UMLS:C1335929 {source="OMIM:162091", source="MONDO:equivalentTo", source="ORDO:93921/e", source="DOID:3204", source="NCIT:C6557", source="Orphanet:93921"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0002546 {source="DOID:3204", source="NCIT:C6557"} ! schwannoma
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0019289 {source="Orphanet:93921"} ! hyperpigmentation of the skin
is_a: MONDO:0020063 {source="Orphanet:93921"} ! malformation syndrome with hamartosis
is_a: MONDO:0021061 {source="https://en.wikipedia.org/wiki/Schwannomatosis"} ! neurofibromatosis
property_value: closeMatch http://identifiers.org/snomedct/142071000119101
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931480
property_value: exactMatch DOID:3204
property_value: exactMatch http://identifiers.org/mesh/C536641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335929
property_value: exactMatch NCIT:C6557
property_value: exactMatch Orphanet:93921

[Term]
id: MONDO:0008076
name: amyotrophic neuralgia
synonym: "amyotrophy, hereditary neuralgic" RELATED [MONDO:Lexical, OMIM:162100]
synonym: "amyotrophy, hereditary neuralgic, with predilection for brachial plexus" RELATED [OMIM:162100]
synonym: "amyotrophy, hereditary neuralgic; HNA" RELATED [OMIM:162100]
synonym: "brachial plexus neuropathy, hereditary" RELATED [OMIM:162100]
synonym: "hereditary brachial plexus neuropathy" RELATED [GARD:0003955]
synonym: "hereditary neuralgic amyotrophy" RELATED [GARD:0003955]
synonym: "HNA" RELATED [MONDO:Lexical, OMIM:162100]
synonym: "neuralgic amyotrophy" EXACT [DOID:10383, ICD9CM_2006:353.5]
synonym: "neuritis with brachial predilection" RELATED [OMIM:162100]
xref: DOID:10383 {source="MONDO:equivalentTo"}
xref: GARD:0003955 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G54.5 {source="DOID:10383"}
xref: ICD9:353.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:10383"}
xref: OMIM:162100 {source="MONDO:equivalentTo", source="DOID:10383"}
xref: SCTID:26609002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.19", source="DOID:10383"}
is_a: MONDO:0006683 {source="DOID:10383", source="MONDOLEX:0008076", source="linkedlifedata"} ! brachial plexus neuropathy
is_a: MONDO:0017362 {source="ORDO:2901/btnt"} ! neuralgic amyotrophy
property_value: closeMatch http://identifiers.org/snomedct/193113006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510479
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834304
property_value: exactMatch DOID:10383
property_value: exactMatch http://identifiers.org/omim/162100
property_value: exactMatch http://identifiers.org/snomedct/26609002

[Term]
id: MONDO:0008077
name: obsolete neurofibromatosis, type 1
is_obsolete: true
replaced_by: MONDO:0018975

[Term]
id: MONDO:0008078
name: neurofibromatosis, familial spinal
synonym: "Fsnf" RELATED [OMIM:162210]
synonym: "neurofibromatosis, familial spinal" EXACT [OMIM:162210]
xref: MESH:C563523 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162210 {source="MONDO:equivalentTo"}
xref: UMLS:C1834235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162210"}
is_a: MONDO:0018975 {source="DC-OMIM:162210", source="MONDOLEX:0008078"} ! neurofibromatosis type 1
property_value: exactMatch http://identifiers.org/mesh/C563523
property_value: exactMatch http://identifiers.org/omim/162210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834235

[Term]
id: MONDO:0008079
name: neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
synonym: "duodenal carcinoid syndrome" RELATED [OMIM:162240]
synonym: "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" EXACT [OMIM:162240]
synonym: "Npdc syndrome" RELATED [OMIM:162240]
xref: GARD:0010543 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563522 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162240 {source="MONDO:equivalentTo"}
xref: UMLS:C1834232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162240"}
is_a: MONDO:0003847 {source="MESH:C563522/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563522
property_value: exactMatch http://identifiers.org/omim/162240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834232

[Term]
id: MONDO:0008080
name: neurofibromatosis, type III, mixed central and peripheral
synonym: "neurofibromas, palmar cutaneous" RELATED [OMIM:162260]
synonym: "neurofibromatosis, type III, mixed central and peripheral" EXACT [MONDO:Lexical, OMIM:162260]
synonym: "neurofibromatosis, type III, mixed central and peripheral; NF3A" RELATED [OMIM:162260]
synonym: "neurofibromatosis, type III, of Riccardi" RELATED [OMIM:162260]
synonym: "neurofibromatosis, type III, Riccardi type" RELATED [OMIM:162260]
synonym: "Nf 3" RELATED [OMIM:162260]
synonym: "NF3A" RELATED [MONDO:Lexical, OMIM:162260]
xref: MESH:C537389 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162260 {source="MONDO:equivalentTo"}
xref: SCTID:254240003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
is_a: MONDO:0008075 {source="MONDOLEX:0008080", source="ORDO:93921/btnt"} ! neurofibromatosis type 3
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834230
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834231
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931480
property_value: exactMatch http://identifiers.org/mesh/C537389
property_value: exactMatch http://identifiers.org/omim/162260
property_value: exactMatch http://identifiers.org/snomedct/254240003

[Term]
id: MONDO:0008081
name: neurofibromatosis, type IV, of Riccardi
synonym: "neurofibromatosis type 4" EXACT []
synonym: "neurofibromatosis type IV" EXACT []
synonym: "neurofibromatosis, atypical" RELATED [OMIM:162270]
synonym: "neurofibromatosis, type IV, of Riccardi" EXACT [MONDO:Lexical, OMIM:162270]
synonym: "neurofibromatosis, type IV, of RICCARDI; NF4" RELATED [OMIM:162270]
synonym: "neurofibromatosis, variant form(S) of" RELATED [OMIM:162270]
synonym: "Nf 4" RELATED [OMIM:162270]
synonym: "NF4" RELATED [MONDO:Lexical, OMIM:162270]
synonym: "type IV neurofibromatosis of Riccardi" EXACT []
xref: MESH:C537392 {source="MONDO:equivalentTo"}
xref: OMIM:162270 {source="MONDO:equivalentTo"}
is_a: MONDO:0021061 {source="MESH:C537392", source="MONDO:cjm"} ! neurofibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220695
property_value: exactMatch http://identifiers.org/mesh/C537392
property_value: exactMatch http://identifiers.org/omim/162270

[Term]
id: MONDO:0008082
name: multiple endocrine neoplasia type 2B
def: "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus." [Orphanet:247709]
subset: gard_rare {source="GARD:0010225"}
subset: ordo_clinical_subtype {source="Orphanet:247709"}
synonym: "men 2B" EXACT [NCIT:C3227]
synonym: "men IIB" EXACT [NCIT:C3227]
synonym: "men type 2B" EXACT [NCIT:C3227]
synonym: "men type IIB" EXACT [DOID:10016, NCIT:C3227]
synonym: "MEN2B" EXACT [DOID:10016, Orphanet:247709]
synonym: "MEN2B" RELATED [MONDO:Lexical, OMIM:162300]
synonym: "mucosal Neuroma syndrome" RELATED [OMIM:162300]
synonym: "mucosal neuroma syndrome" EXACT [CSP2005:2009-6300, DOID:10016]
synonym: "multiple endocrine adenomatosis type IIB" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia type 2B" EXACT [DOID:10016, NCIT:C3227]
synonym: "multiple endocrine neoplasia type 3" EXACT [Orphanet:247709]
synonym: "multiple endocrine neoplasia type IIB" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia type III" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia, type 2B" RELATED [OMIM:162300]
synonym: "multiple endocrine neoplasia, type 3" EXACT [DOID:10016]
synonym: "multiple endocrine neoplasia, type 3 (formerly)" RELATED [GARD:0010225]
synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical, OMIM:162300]
synonym: "multiple endocrine neoplasia, type IIB; MEN2B" RELATED [OMIM:162300]
synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227, OMIM:162300]
synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [OMIM:162300]
synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300]
synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709]
xref: DOID:10016 {source="MONDO:equivalentTo"}
xref: GARD:0010225 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="Orphanet:247709", source="ORDO:247709/attributed", source="ORDO:247709/ntbt"}
xref: ICD10:E31.23 {source="DOID:10016"}
xref: ICD9:237.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:258.03 {source="DOID:10016", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10056420 {source="Orphanet:247709", source="ORDO:247709/e"}
xref: MESH:D018814 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:247709", source="ORDO:247709/e"}
xref: NCIT:C3227 {source="DOID:10016", source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:162300 {source="DOID:10016", source="MONDO:equivalentTo", source="Orphanet:247709", source="ORDO:247709/e"}
xref: Orphanet:247709 {source="DOID:10016", source="MONDO:equivalentTo", source="OMIM:162300"}
xref: SCTID:61530001 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025269 {source="DOID:10016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162300", source="Orphanet:247709", source="NCIT:C3227", source="ORDO:247709/e"}
is_a: MONDO:0000426 {source="DOID:10016", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002814 ! adrenal carcinoma
is_a: MONDO:0005206 ! renal carcinoma
is_a: MONDO:0019003 {source="MONDOLEX:0008082", source="NCIT:C3227", source="Orphanet:247709"} ! multiple endocrine neoplasia type 2
is_a: MONDO:0019116 {source="Orphanet:247709"} ! catecholamine-producing tumor
property_value: exactMatch DOID:10016
property_value: exactMatch http://identifiers.org/meddra/10056420
property_value: exactMatch http://identifiers.org/mesh/D018814
property_value: exactMatch http://identifiers.org/omim/162300
property_value: exactMatch http://identifiers.org/snomedct/61530001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025269
property_value: exactMatch NCIT:C3227
property_value: exactMatch Orphanet:247709
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b xsd:anyURI {source="GARD:0010225"}

[Term]
id: MONDO:0008083
name: neuronal ceroid lipofuscinosis 4B
def: "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C128116]
subset: ordo_etiological_subtype {source="Orphanet:228343"}
synonym: "adult neuronal ceroid lipofuscinosis 4B" RELATED [GARD:0001222]
synonym: "autosomal dominant Kufs disease" EXACT [NCIT:C128116]
synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720]
synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant" RELATED [MONDO:Lexical, OMIM:162350]
synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant; CLN4B" RELATED [OMIM:162350]
synonym: "ceroid lipofuscinosis, neuronal, parry type" RELATED [OMIM:162350]
synonym: "CLN4B" RELATED [MONDO:Lexical, OMIM:162350]
synonym: "CLN4B disease" EXACT [DOID:0110720]
synonym: "Kuf's disease type B" RELATED [GARD:0001222]
synonym: "Kuf's disease, autosomal dominant" RELATED [GARD:0001222]
synonym: "Kufs disease, autosomal dominant" RELATED [OMIM:162350]
synonym: "neuronal ceroid lipofuscinosis 4 parry type" EXACT [DOID:0110720]
synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE:4]
synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116]
xref: DOID:0110720 {source="MONDO:equivalentTo"}
xref: GARD:0001222 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="DOID:0110720", source="ORDO:228343/attributed", source="ORDO:228343/ntbt", source="Orphanet:228343"}
xref: NCIT:C128116 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:162350 {source="DOID:0110720", source="MONDO:equivalentTo", source="ORDO:228343/e", source="Orphanet:228343"}
xref: Orphanet:228343 {source="DOID:0110720", source="MONDO:equivalentTo", source="OMIM:162350"}
xref: UMLS:C1834207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128116", source="OMIM:162350", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4284284 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0019260 {source="MONDOLEX:0008083", source="Orphanet:228343"} ! adult neuronal ceroid lipofuscinosis
property_value: exactMatch DOID:0110720
property_value: exactMatch http://identifiers.org/omim/162350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284284
property_value: exactMatch NCIT:C128116
property_value: exactMatch Orphanet:228343

[Term]
id: MONDO:0008084
name: neuropathy, congenital, with arthrogryposis multiplex
subset: gard_rare {source="GARD:0010086"}
synonym: "congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" RELATED [GARD:0010086]
synonym: "neuropathy, congenital, with arthrogryposis multiplex" EXACT [OMIM:162370]
xref: GARD:0010086 {source="MONDO:equivalentTo"}
xref: MESH:C535714 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162370 {source="MONDO:equivalentTo"}
xref: UMLS:C1834206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162370"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535714
property_value: exactMatch http://identifiers.org/omim/162370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834206
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex xsd:anyURI {source="GARD:0010086"}

[Term]
id: MONDO:0008085
name: neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
synonym: "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" EXACT [OMIM:162380]
xref: MESH:C563517 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162380 {source="MONDO:equivalentTo"}
xref: UMLS:C1834205 {source="OMIM:162380", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563517/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563517
property_value: exactMatch http://identifiers.org/omim/162380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834205

[Term]
id: MONDO:0008086
name: neuropathy, hereditary sensory and autonomic, type 1A
def: "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." [https://www.ncbi.nlm.nih.gov/books/NBK1390]
comment: Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010).
synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [DOID:0070152]
synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [DOID:0070152]
synonym: "HSAN 1A" RELATED [OMIM:162400]
synonym: "HSAN1A" EXACT [DOID:0070152, MONDO:Lexical, OMIM:162400]
synonym: "HSN 1A" RELATED [OMIM:162400]
synonym: "neuropathy, hereditary sensory and autonomic, type IA" RELATED [MONDO:Lexical, OMIM:162400]
synonym: "neuropathy, hereditary sensory and autonomic, type IA; HSAN1A" RELATED [OMIM:162400]
synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" RELATED [OMIM:162400]
synonym: "neuropathy, hereditary sensory, type 1A" RELATED [OMIM:162400]
synonym: "SPTLC1 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070152 {source="MONDO:equivalentTo"}
xref: GARD:0004798 {source="MONDO:equivalentTo"}
xref: OMIM:162400 {source="DOID:0070152", source="MONDO:equivalentTo"}
is_a: MONDO:0018213 {source="DOID:0070152", source="MONDO:Redundant", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0070152
property_value: exactMatch http://identifiers.org/omim/162400

[Term]
id: MONDO:0008087
name: hereditary neuropathy with liability to pressure palsies
def: "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." [Orphanet:640]
subset: ordo_malformation_syndrome {source="Orphanet:640"}
synonym: "current pressure-sensitive neuropathy" EXACT [DOID:0060843, Orphanet:640]
synonym: "familial recurrent polyneuropathy" EXACT [DOID:0060843]
synonym: "hereditary neuropathy with liability to pressure palsy" RELATED [GARD:0005221]
synonym: "heterozygous microdeletion 17p11.2p12" EXACT [DOID:0060843, Orphanet:640]
synonym: "HNPP" EXACT [DOID:0060843, MONDO:Lexical, OMIM:162500, Orphanet:640]
synonym: "neuropathy, hereditary, with liability to pressure palsies" RELATED [MONDO:Lexical, OMIM:162500]
synonym: "neuropathy, hereditary, with liability to pressure palsies; HNPP" RELATED [OMIM:162500]
synonym: "polyneuropathy, familial recurrent" RELATED [OMIM:162500]
synonym: "potato-grubbing palsy" EXACT [DOID:0060843, Orphanet:640]
synonym: "Tomaculous neuropathy" EXACT [OMIM:162500, Orphanet:640]
synonym: "tomaculous neuropathy" EXACT [DOID:0060843]
synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640]
xref: DOID:0060843 {source="MONDO:equivalentTo"}
xref: GARD:0005221 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:640/attributed", source="ORDO:640/ntbt", source="DOID:0060843", source="Orphanet:640"}
xref: MedDRA:10069382 {source="ORDO:640/e", source="Orphanet:640"}
xref: MESH:C536965 {source="MONDO:equivalentTo"}
xref: OMIM:162500 {source="MONDO:equivalentTo", source="DOID:0060843", source="ORDO:640/e", source="Orphanet:640"}
xref: Orphanet:640 {source="MONDO:equivalentTo", source="DOID:0060843", source="OMIM:162500"}
xref: SCTID:230558006 {source="MONDO:kboom-pr-1.00/0.80/9.17", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015359 {source="Orphanet:640"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0016895 {source="Orphanet:640"} ! partial monosomy of the short arm of chromosome 17
property_value: exactMatch DOID:0060843
property_value: exactMatch http://identifiers.org/meddra/10069382
property_value: exactMatch http://identifiers.org/mesh/C536965
property_value: exactMatch http://identifiers.org/omim/162500
property_value: exactMatch http://identifiers.org/snomedct/230558006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393814
property_value: exactMatch Orphanet:640

[Term]
id: MONDO:0008088
name: neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
synonym: "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" RELATED [OMIM:162600]
xref: MESH:C563516 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162600 {source="MONDO:equivalentTo"}
xref: UMLS:C1834180 {source="OMIM:162600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563516
property_value: exactMatch http://identifiers.org/omim/162600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834180

[Term]
id: MONDO:0008089
name: neutropenia, chronic familial
subset: gard_rare {source="GARD:0003983"}
synonym: "chronic familial neutropenia" RELATED [GARD:0003983]
synonym: "leukopenia benign familial" RELATED [GARD:0003983]
synonym: "leukopenia, benign familial" RELATED [OMIM:162700]
synonym: "neutropenia chronic familial" RELATED [GARD:0003983]
synonym: "neutropenia, chronic familial" EXACT [OMIM:162700]
xref: GARD:0003983 {source="MONDO:equivalentTo"}
xref: ICD9:288.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535815 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162700 {source="MONDO:equivalentTo"}
xref: SCTID:234576008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.02"}
xref: UMLS:C3665676 {source="OMIM:162700", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2267231
property_value: exactMatch http://identifiers.org/mesh/C535815
property_value: exactMatch http://identifiers.org/omim/162700
property_value: exactMatch http://identifiers.org/snomedct/234576008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665676
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial xsd:anyURI {source="GARD:0003983"}

[Term]
id: MONDO:0008090
name: cyclic hematopoiesis
def: "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." [NCIT:P378]
subset: ordo_disease {source="Orphanet:2686"}
synonym: "CH" EXACT [NCIT:C3820]
synonym: "CN" EXACT [NCIT:C3820]
synonym: "cyclic agranulocytosis" EXACT [DOID:5339]
synonym: "cyclic hematopoiesis" EXACT [DOID:5339, NCIT:C3820, OMIM:162800]
synonym: "cyclic neutropenia" RELATED [OMIM:162800]
synonym: "cyclical neutropenia" EXACT [DOID:5339]
synonym: "dysplasia, myelocytic periodic" EXACT [NCIT:C3820]
synonym: "neutropenia cyclic" RELATED [GARD:0006229]
synonym: "neutropenia, periodic" EXACT [DOID:5339, MTHICD9_2006:288.0]
synonym: "periodic neutropenia" EXACT [NCIT:C3820]
xref: COHD:432297 {source="MONDO:equivalentTo"}
xref: DOID:5339 {source="MONDO:equivalentTo"}
xref: GARD:0006229 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="Orphanet:2686", source="ORDO:2686/ntbt", source="ORDO:2686/inclusion"}
xref: ICD10:D70.4 {source="DOID:5339"}
xref: ICD9:288.02 {source="DOID:5339", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10053176 {source="ORDO:2686/e", source="Orphanet:2686"}
xref: MESH:C536227 {source="ORDO:2686/e", source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3820 {source="DOID:5339", source="MONDO:equivalentTo"}
xref: OMIM:162800 {source="ORDO:2686/e", source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo"}
xref: Orphanet:2686 {source="OMIM:162800", source="MONDO:equivalentTo"}
xref: SCTID:191347008 {source="DOID:5339", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015134 {source="Orphanet:2686"} ! constitutional neutropenia
property_value: closeMatch http://identifiers.org/snomedct/234575007
property_value: closeMatch http://identifiers.org/snomedct/69295006
property_value: exactMatch DOID:5339
property_value: exactMatch http://identifiers.org/meddra/10053176
property_value: exactMatch http://identifiers.org/mesh/C536227
property_value: exactMatch http://identifiers.org/omim/162800
property_value: exactMatch http://identifiers.org/snomedct/191347008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221023
property_value: exactMatch NCIT:C3820
property_value: exactMatch Orphanet:2686

[Term]
id: MONDO:0008091
name: abnormal neutrophil chemotactic response
synonym: "neutrophil chemotactic response" RELATED [OMIM:162820]
synonym: "neutrophil migration" RELATED [MONDO:Lexical, OMIM:162820]
synonym: "neutrophil migration; NM" RELATED [OMIM:162820]
synonym: "NM" BROAD [MONDO:Lexical, OMIM:162820]
xref: OMIM:162820 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0312860
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834174
property_value: exactMatch http://identifiers.org/omim/162820

[Term]
id: MONDO:0008092
name: hereditary neutrophilia
def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the CSF3R gene on chromosome 1p34." [DOID:0090120]
subset: ordo_disease {source="Orphanet:279943"}
synonym: "neutrophilia, hereditary" RELATED [OMIM:162830]
xref: DOID:0090120 {source="MONDO:equivalentTo"}
xref: ICD10:D72.8 {source="DOID:0090120", source="ORDO:279943/attributed", source="ORDO:279943/ntbt", source="Orphanet:279943"}
xref: MESH:C563010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:162830 {source="DOID:0090120", source="ORDO:279943/e", source="MONDO:equivalentTo", source="Orphanet:279943"}
xref: Orphanet:279943 {source="DOID:0090120", source="MONDO:equivalentTo", source="OMIM:162830"}
xref: SCTID:129639005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0543669 {source="DOID:0090120", source="ORDO:279943/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:279943", source="OMIM:162830"}
is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010", source="linkedlifedata/inferred"} ! leukocyte disease
property_value: exactMatch DOID:0090120
property_value: exactMatch http://identifiers.org/mesh/C563010
property_value: exactMatch http://identifiers.org/omim/162830
property_value: exactMatch http://identifiers.org/snomedct/129639005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543669
property_value: exactMatch Orphanet:279943

[Term]
id: MONDO:0008093
name: nevus, epidermal
def: "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." [NCIT:C4088]
synonym: "Epidermal Nevus" EXACT [NCIT:C4088]
synonym: "Nevus sebaceous" RELATED [OMIM:162900]
synonym: "nevus, epidermal" EXACT [OMIM:162900]
synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [OMIM:162900]
synonym: "Nevus, woolly hair" RELATED [OMIM:162900]
synonym: "nonepidermolytic keratinocytic nevus" EXACT [DOID:0111162]
xref: DOID:0111162 {source="MONDO:equivalentTo"}
xref: GARD:0013025 {source="MONDO:equivalentTo"}
xref: MESH:C580062 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4088 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: OMIM:162900 {source="DOID:0111162", source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="MESH:C580062"} ! melanocytic nevus
is_a: MONDO:0015950 ! inherited skin tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265318
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665593
property_value: exactMatch DOID:0111162
property_value: exactMatch http://identifiers.org/mesh/C580062
property_value: exactMatch http://identifiers.org/omim/162900
property_value: exactMatch NCIT:C4088

[Term]
id: MONDO:0008094
name: familial multiple nevi flammei
def: "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." [NCIT:C3840]
subset: ordo_morphological_anomaly {source="Orphanet:624"}
synonym: "capillary malformations" RELATED [OMIM:163000]
synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical, OMIM:163000]
synonym: "capillary malformations, congenital; CMC" RELATED [OMIM:163000]
synonym: "CMC" RELATED [MONDO:Lexical, OMIM:163000]
synonym: "familial multiple port-wine stains" EXACT [Orphanet:624]
synonym: "nevi flammei, familial multiple" RELATED [OMIM:163000]
synonym: "Nevus flammeus" EXACT [NCIT:C3840]
synonym: "port wine birthmark" EXACT [NCIT:C3840]
synonym: "port wine Nevus" EXACT [NCIT:C3840]
synonym: "port wine stain" EXACT [NCIT:C3840]
synonym: "port wine stain of skin" EXACT [NCIT:C3840]
synonym: "port wine stain of the skin" EXACT [NCIT:C3840]
synonym: "port wine type hemangioma" EXACT [NCIT:C3840]
synonym: "port-wine stain" RELATED [OMIM:163000]
synonym: "port-wine stain familial multiple" RELATED [GARD:0003986]
synonym: "port-wine stain of skin" EXACT [NCIT:C3840]
synonym: "Salmon patch Nevus" EXACT [NCIT:C3840]
xref: GARD:0003986 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q82.5 {source="Orphanet:624", source="ORDO:624/inclusion", source="ORDO:624/ntbt"}
xref: MedDRA:10067193 {source="ORDO:624/e", source="Orphanet:624"}
xref: NCIT:C3840 {source="MONDO:kboom-pr-0.77/0.39/0.73", source="MONDO:equivalentTo"}
xref: OMIM:163000 {source="ORDO:624/e", source="Orphanet:624", source="MONDO:equivalentTo"}
xref: Orphanet:624 {source="MONDO:equivalentTo", source="OMIM:163000"}
xref: SCTID:416377005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.78"}
xref: UMLS:C0235752 {source="ORDO:624/e", source="Orphanet:624", source="MONDO:equivalentTo", source="NCIT:C3840", source="OMIM:163000"}
xref: UMLS:CN205384 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:624", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation
is_a: MONDO:0019293 {source="Orphanet:624", source="linkedlifedata/inferred"} ! skin vascular disease
is_a: MONDO:0021658 {source="NCIT:C3840"} ! vascular ectasia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015948", source="MONDO:0018728"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931029
property_value: exactMatch http://identifiers.org/meddra/10067193
property_value: exactMatch http://identifiers.org/mesh/D019339
property_value: exactMatch http://identifiers.org/omim/163000
property_value: exactMatch http://identifiers.org/snomedct/416377005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205384
property_value: exactMatch NCIT:C3840
property_value: exactMatch Orphanet:624

[Term]
id: MONDO:0008095
name: nevus anemicus (disease)
def: "A capillary vascular anomaly that is characterized by hypopigmented macules." [NCIT:C3943]
synonym: "anemicus Nevus" EXACT [NCIT:C3943]
synonym: "NEVUS anemicus" RELATED [OMIM:163050]
synonym: "Nevus anemicus" EXACT [MONDO:ambiguous]
xref: HP:0025105 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3943 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:163050 {source="MONDO:equivalentTo"}
xref: SCTID:40929003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0021658 {source="NCIT:C3943"} ! vascular ectasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265982
property_value: exactMatch http://identifiers.org/omim/163050
property_value: exactMatch http://identifiers.org/snomedct/40929003
property_value: exactMatch NCIT:C3943

[Term]
id: MONDO:0008096
name: nevus flammeus of nape of neck
synonym: "erythema nuchae" RELATED [OMIM:163100]
synonym: "nevus flammeus of nape of neck" EXACT [OMIM:163100]
synonym: "Unna Nevus" RELATED [OMIM:163100]
xref: MESH:C567524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:163100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2697447
property_value: exactMatch http://identifiers.org/mesh/C567524
property_value: exactMatch http://identifiers.org/omim/163100

[Term]
id: MONDO:0008097
name: linear nevus sebaceus syndrome
def: "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." [Orphanet:2612]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2612"}
synonym: "epidermal nevus syndrome" RELATED [OMIM:163200]
synonym: "Epidermal Nevus syndrome, formerly" RELATED [OMIM:163200]
synonym: "Jadassohn Nevus phakomatosis" RELATED [OMIM:163200]
synonym: "Jadassohn nevus phakomatosis" RELATED [GARD:0010291]
synonym: "JNP" RELATED [GARD:0010291]
synonym: "linear nevus sebaceous syndrome" RELATED [GARD:0010291]
synonym: "linear sebaceous Nevus" EXACT [NCIT:C4678]
synonym: "linear sebaceous Nevus syndrome" RELATED [OMIM:163200]
synonym: "Nevus sebaceous of Jadassohn" EXACT [NCIT:C4678]
synonym: "Nevus sebaceus of Jadassohn" EXACT [GARD:0010291, OMIM:163200, Orphanet:2612]
synonym: "Nevus sebaceus syndrome" EXACT [Orphanet:2612]
synonym: "organoid Nevus" EXACT [NCIT:C4678]
synonym: "organoid Nevus phakomatosis" RELATED [OMIM:163200]
synonym: "organoid nevus phakomatosis" RELATED [GARD:0010291]
synonym: "organoid nevus syndrome" EXACT [Orphanet:2612]
synonym: "Schimmelpenning Feuerstein Mims syndrome" RELATED [GARD:0010291]
synonym: "Schimmelpenning syndrome" EXACT [Orphanet:2612]
synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome" RELATED [MONDO:Lexical, OMIM:163200]
synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome; SFM" RELATED [OMIM:163200]
synonym: "sebaceous nevus syndrome linear" RELATED [GARD:0010291]
synonym: "sebaceous Nevus syndrome, linear" RELATED [OMIM:163200]
synonym: "SFM" RELATED [MONDO:Lexical, OMIM:163200]
synonym: "SFM syndrome" RELATED [GARD:0010291]
synonym: "Sfm syndrome" RELATED [OMIM:163200]
synonym: "Solomon syndrome" EXACT [Orphanet:2612]
xref: GARD:0010291 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="ORDO:2612/attributed", source="ORDO:2612/ntbt", source="Orphanet:2612"}
xref: NCIT:C4678 {source="MONDO:equivalentTo"}
xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="ORDO:2612/e", source="GARD:0010291"}
xref: Orphanet:2612 {source="MONDO:equivalentTo", source="OMIM:163200", source="GARD:0010291"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006105 ! benign conjunctival neoplasm
is_a: MONDO:0006499 {source="NCIT:C4678"} ! hamartoma (disease)
is_a: MONDO:0015950 {source="Orphanet:2612", source="indirect"} ! inherited skin tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020063 {source="Orphanet:2612"} ! malformation syndrome with hamartosis
is_a: MONDO:0020179 {source="Orphanet:2612"} ! palpebral nevus
is_a: MONDO:0020205 {source="Orphanet:2612"} ! bulbar conjunctival dermoid or conjunctival dermolipoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265318
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265329
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3854181
property_value: exactMatch http://identifiers.org/omim/163200
property_value: exactMatch NCIT:C4678
property_value: exactMatch Orphanet:2612
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome xsd:anyURI {source="GARD:0010291"}

[Term]
id: MONDO:0008098
name: mesomelic dwarfism, Nievergelt type
subset: ordo_malformation_syndrome {source="Orphanet:2633"}
synonym: "mesomelic dwarfism Nievergelt type" RELATED [GARD:0003554]
synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400]
synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633]
synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554]
xref: GARD:0003554 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:2633/attributed", source="ORDO:2633/ntbt", source="Orphanet:2633"}
xref: MESH:C536120 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:163400 {source="ORDO:2633/e", source="MONDO:equivalentTo", source="Orphanet:2633"}
xref: Orphanet:2633 {source="MONDO:equivalentTo", source="OMIM:163400"}
xref: SCTID:33979003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.20"}
xref: UMLS:C0432231 {source="ORDO:2633/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2633", source="OMIM:163400"}
is_a: MONDO:0019697 {source="Orphanet:2633"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536120
property_value: exactMatch http://identifiers.org/omim/163400
property_value: exactMatch http://identifiers.org/snomedct/33979003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432231
property_value: exactMatch Orphanet:2633

[Term]
id: MONDO:0008099
name: congenital stationary night blindness autosomal dominant 2
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [DOID:0110863, MONDORULE:1]
synonym: "congenital stationary night blindness caused by mutation in PDE6B" EXACT [MONDO:design_pattern]
synonym: "CSNBAD2" EXACT [DOID:0110863, MONDO:Lexical, OMIM:163500]
synonym: "night blindness, congenital stationary, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:163500]
synonym: "night blindness, congenital stationary, autosomal dominant 2; CSNBAD2" RELATED [OMIM:163500]
synonym: "night blindness, congenital stationary, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:163500]
synonym: "night blindness, congenital stationary, Rambusch type" RELATED [OMIM:163500]
synonym: "PDE6B congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Rambusch type congenital stationary night blindness" EXACT [DOID:0110863]
xref: DOID:0110863 {source="MONDO:equivalentTo"}
xref: MESH:C566869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:163500 {source="DOID:0110863", source="MONDO:equivalentTo"}
xref: UMLS:C1876182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:163500"}
is_a: MONDO:0016293 {source="DC-OMIM:163500", source="DOID:0110863", source="MONDO:Redundant", source="MONDOLEX:0008099", source="OMIM:163500"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110863
property_value: exactMatch http://identifiers.org/mesh/C566869
property_value: exactMatch http://identifiers.org/omim/163500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876182

[Term]
id: MONDO:0008100
name: nipples inverted
synonym: "Mammillae Invertitae" RELATED [OMIM:163600]
synonym: "nipples inverted" EXACT [OMIM:163600]
xref: OMIM:163600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0269269
property_value: exactMatch http://identifiers.org/omim/163600

[Term]
id: MONDO:0008101
name: familial supernumerary nipples
def: "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." [Orphanet:2456]
subset: ordo_morphological_anomaly {source="Orphanet:2456"}
synonym: "accessory nipples" RELATED [OMIM:163700]
synonym: "isolated polythelia" EXACT [Orphanet:2456]
synonym: "nipples, supernumerary" RELATED [OMIM:163700]
synonym: "polymastia" RELATED [OMIM:163700]
synonym: "polythelia, familial" RELATED [OMIM:163700]
xref: ICD10:Q83.3 {source="Orphanet:2456", source="ORDO:2456/ntbt"}
xref: OMIM:163700 {source="Orphanet:2456", source="ORDO:2456/e", source="MONDO:equivalentTo"}
xref: Orphanet:2456 {source="OMIM:163700", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015854 ! supernumerary breasts
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266011
property_value: exactMatch http://identifiers.org/omim/163700
property_value: exactMatch Orphanet:2456

[Term]
id: MONDO:0008102
name: sick sinus syndrome 2, autosomal dominant
def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [OMIM:163800]
synonym: "HCN4 sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 2" RELATED [OMIM:163800]
synonym: "sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation" RELATED [OMIM:163800]
synonym: "sick sinus syndrome 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:163800]
synonym: "sick sinus syndrome 2, autosomal dominant; SSS2" RELATED [OMIM:163800]
synonym: "sick sinus syndrome 2; SSS2" RELATED [OMIM:163800]
synonym: "sick sinus syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern]
synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [OMIM:163800]
synonym: "sinus node disease, familial, autosomal dominant" RELATED [OMIM:163800]
synonym: "Sss, autosomal dominant" RELATED [OMIM:163800]
synonym: "SSS2" RELATED [MONDO:Lexical, OMIM:163800]
xref: MESH:C563513 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:163800 {source="MONDO:equivalentTo"}
xref: UMLS:C1834144 {source="OMIM:163800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0012061 {source="ORDO:166282/btnt"} ! familial sick sinus syndrome
property_value: exactMatch http://identifiers.org/mesh/C563513
property_value: exactMatch http://identifiers.org/omim/163800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834144

[Term]
id: MONDO:0008103
name: noduli Cutanei, multiple, with urinary tract abnormalities
synonym: "noduli Cutanei, multiple, with urinary tract abnormalities" EXACT [OMIM:163850]
xref: MESH:C563512 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:163850 {source="MONDO:equivalentTo"}
xref: UMLS:C1834143 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:163850"}
is_a: MONDO:0003847 {source="MESH:C563512/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563512
property_value: exactMatch http://identifiers.org/omim/163850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834143

[Term]
id: MONDO:0008104
name: Noonan syndrome 1
def: "Noonan syndrome caused by mutations in the PTPN11 gene." [NCIT:C75459]
synonym: "female pseudo-Turner syndrome" RELATED [OMIM:163950]
synonym: "Male Turner syndrome" RELATED [OMIM:163950]
synonym: "Noonan syndrome" RELATED [OMIM:163950]
synonym: "Noonan syndrome 1" EXACT [MONDO:Lexical, OMIM:163950]
synonym: "Noonan syndrome 1; NS1" RELATED [OMIM:163950]
synonym: "Noonan syndrome type 1" EXACT [DOID:0060578, MONDORULE:1, OMIM:163950]
synonym: "NS1" EXACT [DOID:0060578, MONDO:Lexical, OMIM:163950]
synonym: "pterygium colli syndrome" RELATED [OMIM:163950]
synonym: "Turner phenotype with normal karyotype" RELATED [OMIM:163950]
xref: DOID:0060578 {source="MONDO:equivalentTo"}
xref: GARD:0007223 {source="MONDO:equivalentTo"}
xref: NCIT:C75459 {source="MONDO:kboom-pr-1.00/0.79/5.41", source="MONDO:equivalentTo"}
xref: OMIM:163950 {source="DOID:0060578", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:163950", source="DOID:0060578", source="NCIT:C75459", source="OMIM:163950"} ! Noonan syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041409
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527404
property_value: exactMatch DOID:0060578
property_value: exactMatch http://identifiers.org/omim/163950
property_value: exactMatch NCIT:C75459

[Term]
id: MONDO:0008105
name: nose, anomalous shape of
synonym: "nose, anomalous shape of" EXACT [OMIM:164000]
synonym: "potato Nose" RELATED [OMIM:164000]
xref: GARD:0010040 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538354 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834118
property_value: exactMatch http://identifiers.org/mesh/C538354
property_value: exactMatch http://identifiers.org/omim/164000

[Term]
id: MONDO:0008106
name: NYS2
synonym: "NYS2" EXACT [MONDO:Lexical, OMIM:164100]
synonym: "NYSTAGMUS 2, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:164100]
synonym: "NYSTAGMUS 2, congenital, autosomal dominant; NYS2" RELATED [OMIM:164100]
synonym: "Nystagmus congenital, motor 2" RELATED [GARD:0009599]
synonym: "Nystagmus, congenital motor, 2" RELATED [OMIM:164100]
xref: GARD:0009599 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537854 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164100 {source="MONDO:equivalentTo"}
is_a: MONDO:0005712 {source="DC-OMIM:164100", source="MESH:C537854", source="MONDO:cjm", source="OMIM:164100"} ! congenital nystagmus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834079
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C537854
property_value: exactMatch http://identifiers.org/omim/164100

[Term]
id: MONDO:0008107
name: nystagmus, hereditary vertical
subset: gard_rare {source="GARD:0009604"}
synonym: "congenital hereditary vertical nystagmus" RELATED [GARD:0009604]
synonym: "hereditary vertical nystagmus" RELATED [GARD:0009604]
synonym: "nystagmus, hereditary vertical" EXACT [OMIM:164150]
xref: GARD:0009604 {source="MONDO:equivalentTo"}
xref: MESH:C537857 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164150 {source="MONDO:equivalentTo"}
xref: UMLS:C1834078 {source="NCBI:mim2gene_medline", source="OMIM:164150", source="MONDO:equivalentTo"}
is_a: MONDO:0005712 {source="DC-OMIM:164150", source="MONDO:cjm"} ! congenital nystagmus
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C537857
property_value: exactMatch http://identifiers.org/omim/164150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834078
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical xsd:anyURI {source="GARD:0009604"}

[Term]
id: MONDO:0008108
name: oculocerebrocutaneous syndrome
def: "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." [Orphanet:1647]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1647"}
synonym: "Delleman Oorthuys syndrome" RELATED [GARD:0000106]
synonym: "Delleman syndrome" EXACT [Orphanet:1647]
synonym: "Delleman-Oorthuys syndrome" EXACT [Orphanet:1647]
synonym: "Leichtman-Wood-Rohn syndrome" EXACT [Orphanet:1647]
synonym: "OCC syndrome" RELATED [GARD:0000106]
synonym: "OCCS" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647]
synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106]
synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180]
synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647]
xref: GARD:0000106 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1647/attributed", source="ORDO:1647/ntbt", source="Orphanet:1647"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538088 {source="MONDO:equivalentTo", source="ORDO:1647/e", source="Orphanet:1647"}
xref: OMIM:164180 {source="MONDO:equivalentTo", source="ORDO:1647/e", source="GARD:0000106", source="Orphanet:1647"}
xref: Orphanet:1647 {source="OMIM:164180", source="MONDO:equivalentTo", source="GARD:0000106"}
xref: SCTID:403554008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.19"}
xref: UMLS:C0796092 {source="OMIM:164180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1647/e", source="GARD:0000106", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1647"}
is_a: MONDO:0015218 {source="Orphanet:1647"} ! syndromic developmental defect of the eye
is_a: MONDO:0015650 {source="Orphanet:1647"} ! epilepsy syndrome
is_a: MONDO:0017120 {source="Orphanet:1647"} ! other syndrome with a central nervous system malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931390
property_value: exactMatch http://identifiers.org/mesh/C538088
property_value: exactMatch http://identifiers.org/omim/164180
property_value: exactMatch http://identifiers.org/snomedct/403554008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796092
property_value: exactMatch Orphanet:1647
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome xsd:anyURI {source="GARD:0000106"}

[Term]
id: MONDO:0008109
name: ocular cicatricial pemphigoid
def: "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders ) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." [https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid]
subset: gard_rare {source="GARD:0008759"}
synonym: "cicatricial pemphigoid, ocular" RELATED [GARD:0008759]
synonym: "OCP" RELATED [MONDO:Lexical, OMIM:164185]
synonym: "ocular cicatricial pemphigoid" EXACT [MONDO:Lexical, OMIM:164185]
synonym: "ocular cicatricial pemphigoid; OCP" RELATED [OMIM:164185]
synonym: "pemphigoid, ocular cicatricial" RELATED [GARD:0008759]
xref: EFO:0008610 {source="MONDO:equivalentTo"}
xref: GARD:0008759 {source="MONDO:equivalentTo"}
xref: NCIT:C84939 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:164185 {source="MONDO:equivalentTo"}
xref: SCTID:314757003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1282359 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164185", source="NCIT:C84939"}
is_a: MONDO:0018746 {source="EFO:0008610", source="MONDO:cjm", source="NCIT:C84939"} ! mucous membrane pemphigoid
property_value: exactMatch http://identifiers.org/omim/164185
property_value: exactMatch http://identifiers.org/snomedct/314757003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282359
property_value: exactMatch NCIT:C84939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid xsd:anyURI {source="GARD:0008759"}

[Term]
id: MONDO:0008110
name: ocular dominance
synonym: "ocular dominance" EXACT [OMIM:164190]
xref: OMIM:164190 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0422883
property_value: exactMatch http://identifiers.org/omim/164190

[Term]
id: MONDO:0008111
name: oculodentodigital dysplasia
def: "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." [Orphanet:2710]
subset: gard_rare {source="GARD:0007239"}
subset: ordo_malformation_syndrome {source="Orphanet:2710"}
synonym: "Meyer-Schwickerath syndrome" EXACT [Orphanet:2710]
synonym: "oculo-dento-digital dysplasia" RELATED [GARD:0007239]
synonym: "oculo-dento-digital syndrome" RELATED [GARD:0007239]
synonym: "oculodentodigital dysplasia" EXACT [MONDO:Lexical, OMIM:164200]
synonym: "oculodentodigital dysplasia; ODDD" RELATED [OMIM:164200]
synonym: "oculodentodigital syndrome" RELATED [GARD:0007239]
synonym: "oculodentoosseous dysplasia" EXACT [OMIM:164200, Orphanet:2710]
synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200]
synonym: "ODDD" RELATED [MONDO:Lexical, OMIM:164200]
synonym: "ODDD syndrome" EXACT [Orphanet:2710]
xref: DOID:0060291 {source="MONDO:equivalentTo"}
xref: GARD:0007239 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2710/attributed", source="ORDO:2710/ntbt", source="Orphanet:2710"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063691 {source="ORDO:2710/e", source="Orphanet:2710"}
xref: MESH:C563160 {source="MONDO:equivalentTo", source="DOID:0060291", source="MONDO:ontobio"}
xref: OMIM:164200 {source="ORDO:2710/e", source="MONDO:equivalentTo", source="Orphanet:2710", source="DOID:0060291"}
xref: Orphanet:2710 {source="MONDO:equivalentTo", source="DOID:0060291", source="OMIM:164200"}
xref: SCTID:38215007 {source="MONDO:equivalentTo", source="DOID:0060291", source="MONDO:kboom-pr-1.00/0.80/9.31"}
is_a: MONDO:0015336 {source="Orphanet:2710"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:2710", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019703 {source="Orphanet:2710"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0020277 {source="Orphanet:2710"} ! ectodermal malformation syndrome associated with ocular features
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2710"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/snomedct/31291009
property_value: exactMatch DOID:0060291
property_value: exactMatch http://identifiers.org/meddra/10063691
property_value: exactMatch http://identifiers.org/mesh/C563160
property_value: exactMatch http://identifiers.org/omim/164200
property_value: exactMatch http://identifiers.org/snomedct/38215007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0812437
property_value: exactMatch Orphanet:2710
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia xsd:anyURI {source="GARD:0007239"}

[Term]
id: MONDO:0008112
name: Goldenhar syndrome
def: "Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies." [Orphanet:374]
subset: ordo_malformation_syndrome {source="Orphanet:374"}
synonym: "Expanded spectrum hemifacial microsomia" EXACT [Orphanet:374]
synonym: "Expanded spectrum of hemifacial microsomia" EXACT [Orphanet:374]
synonym: "facio-auriculo-vertebral spectrum" EXACT [DOID:2907]
synonym: "facioauriculovertebral dysplasia" EXACT [Orphanet:374]
synonym: "facioauriculovertebral sequence" RELATED [OMIM:164210]
synonym: "Fav sequence" RELATED [OMIM:164210]
synonym: "first and second branchial arch syndrome" EXACT [DOID:2907]
synonym: "first arch syndrome" EXACT [DOID:2907]
synonym: "Goldenhar disease" RELATED [GARD:0006540]
synonym: "Goldenhar syndrome" EXACT [OMIM:164210]
synonym: "hemifacial microsomia" EXACT [DOID:2907, MONDO:Lexical, OMIM:164210]
synonym: "hemifacial microsomia; HFM" RELATED [OMIM:164210]
synonym: "HFM" RELATED [MONDO:Lexical, OMIM:164210]
synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [CSP2005:0725-7823, DOID:2907]
synonym: "OAV dysplasia" EXACT [Orphanet:374]
synonym: "Oav dysplasia" RELATED [OMIM:164210]
synonym: "OAVS" EXACT [Orphanet:374]
synonym: "oculoauriculovertebral dysplasia" EXACT [OMIM:164210, Orphanet:374]
synonym: "oculoauriculovertebral spectrum" RELATED [OMIM:164210]
synonym: "oculoauriculovertebral syndrome" EXACT [Orphanet:374]
synonym: "otomandibular dysostosis" EXACT EXCLUDE [DOID:2907]
xref: DOID:2907 {source="MONDO:equivalentTo"}
xref: GARD:0006540 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="DOID:2907", source="ORDO:374/inclusion", source="ORDO:374/ntbt", source="Orphanet:374"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006053 {source="DOID:2907", source="MONDO:equivalentTo", source="ORDO:374/e", source="Orphanet:374"}
xref: NCIT:C84740 {source="DOID:2907", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:164210 {source="DOID:2907", source="MONDO:equivalentTo", source="ORDO:374/e", source="Orphanet:374"}
xref: Orphanet:374 {source="DOID:2907", source="MONDO:equivalentTo", source="OMIM:164210"}
xref: SCTID:367462009 {source="DOID:2907", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.23"}
xref: UMLS:C0265240 {source="DOID:2907", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164210", source="ORDO:374/e", source="NCIT:C84740", source="Orphanet:374"}
is_a: MONDO:0002235 ! eyelid neoplasm
is_a: MONDO:0007712 ! oculoauriculovertebral spectrum with radial defects
is_a: MONDO:0015218 {source="Orphanet:374"} ! syndromic developmental defect of the eye
is_a: MONDO:0015321 {source="Orphanet:374"} ! Pierre Robin syndrome associated with branchial archs anomalies
is_a: MONDO:0015397 {source="Orphanet:374"} ! oculo-auriculo-vertebral spectrum
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020157 {source="Orphanet:374"} ! syndromic palpebral coloboma
is_a: MONDO:0020205 {source="Orphanet:374"} ! bulbar conjunctival dermoid or conjunctival dermolipoma
is_a: MONDO:0020215 {source="Orphanet:374"} ! syndromic corneal dystrophy
is_a: MONDO:0020237 {source="Orphanet:374"} ! lens shape anomaly
is_a: MONDO:0021238 ! cornea neoplasm
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0024653 ! skull neoplasm
property_value: closeMatch http://identifiers.org/snomedct/15557005
property_value: closeMatch http://identifiers.org/snomedct/205418005
property_value: closeMatch http://identifiers.org/snomedct/254025006
property_value: closeMatch http://identifiers.org/snomedct/254026007
property_value: closeMatch http://identifiers.org/snomedct/46567003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495417
property_value: exactMatch DOID:2907
property_value: exactMatch http://identifiers.org/mesh/D006053
property_value: exactMatch http://identifiers.org/omim/164210
property_value: exactMatch http://identifiers.org/snomedct/367462009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432130
property_value: exactMatch NCIT:C84740
property_value: exactMatch Orphanet:374

[Term]
id: MONDO:0008113
name: Schilbach-Rott syndrome
def: "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." [Orphanet:2353]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2353"}
synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930, OMIM:164220]
synonym: "BRSS" EXACT [Orphanet:2353]
synonym: "cleft palate, hypotelorism, and hypospadias" RELATED [OMIM:164220]
synonym: "hypotelorism cleft palate hypospadias" RELATED [GARD:0002930]
synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353]
synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220]
synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220]
xref: GARD:0002930 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2353", source="ORDO:2353/attributed", source="ORDO:2353/ntbt"}
xref: MESH:C563509 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164220 {source="Orphanet:2353", source="ORDO:2353/e", source="MONDO:equivalentTo"}
xref: Orphanet:2353 {source="GARD:0002930", source="MONDO:equivalentTo", source="OMIM:164220"}
xref: SCTID:721902002 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
is_a: MONDO:0015620 {source="Orphanet:2353"} ! syndromic urogenital tract malformation
is_a: MONDO:0043008 {source="Orphanet:2353"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834038
property_value: exactMatch http://identifiers.org/mesh/C563509
property_value: exactMatch http://identifiers.org/omim/164220
property_value: exactMatch http://identifiers.org/snomedct/721902002
property_value: exactMatch Orphanet:2353
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias xsd:anyURI {source="GARD:0002930"}

[Term]
id: MONDO:0008114
name: obsessive-compulsive disorder
def: "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." [NCIT:P378]
synonym: "Anancastic neurosis" EXACT [DOID:10933, MTHICD9_2006:300.3]
synonym: "obsessive compulsive disorder" EXACT [DOID:10933]
synonym: "obsessive-compulsive disorder" EXACT [MONDO:Lexical, OMIM:164230]
synonym: "obsessive-compulsive disorder; OCD" RELATED [OMIM:164230]
synonym: "OCD" RELATED [MONDO:Lexical, OMIM:164230]
xref: COHD:440374 {source="MONDO:equivalentTo"}
xref: DOID:10933 {source="MONDO:equivalentTo", source="EFO:0004242"}
xref: EFO:0004242 {source="MONDO:equivalentTo"}
xref: ICD10:F42 {source="DOID:10933", source="MONDO:equivalentTo"}
xref: ICD9:300.3 {source="DOID:10933", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009771 {source="DOID:10933", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0004242"}
xref: NCIT:C88411 {source="DOID:10933", source="MONDO:equivalentTo"}
xref: OMIM:164230 {source="MONDO:equivalentTo"}
xref: SCTID:191736004 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005618 {source="DOID:10933", source="MESH:D009771", source="NCIT:C88411", source="linkedlifedata"} ! anxiety disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/191739006
property_value: closeMatch http://identifiers.org/snomedct/192406007
property_value: closeMatch http://identifiers.org/snomedct/192411009
property_value: closeMatch http://identifiers.org/snomedct/71478004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028768
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834037
property_value: exactMatch DOID:10933
property_value: exactMatch http://identifiers.org/mesh/D009771
property_value: exactMatch http://identifiers.org/omim/164230
property_value: exactMatch http://identifiers.org/snomedct/191736004
property_value: exactMatch NCIT:C88411

[Term]
id: MONDO:0008115
name: Feingold syndrome type 1
def: "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." [Orphanet:391641]
subset: ordo_clinical_subtype {source="Orphanet:391641"}
synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" EXACT [Orphanet:391641]
synonym: "Feingold syndrome" RELATED [OMIM:164280]
synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280]
synonym: "Feingold syndrome 1; FGLDS1" RELATED [OMIM:164280]
synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern]
synonym: "Feingold syndrome type 1" EXACT [MONDORULE:1, OMIM:164280]
synonym: "FGLDS1" EXACT [MONDO:Lexical, OMIM:164280, Orphanet:391641]
synonym: "FS1" EXACT [Orphanet:391641]
synonym: "microcephaly and digital abnormalities with normal intelligence" RELATED [OMIM:164280]
synonym: "microcephaly, mental retardation, and tracheoesophageal fistula syndrome" RELATED [OMIM:164280]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 1" EXACT [Orphanet:391641]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" EXACT [Orphanet:391641]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" RELATED [OMIM:164280]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" EXACT [Orphanet:391641]
synonym: "Mmt syndrome" RELATED [OMIM:164280]
synonym: "MMT type 1" EXACT [Orphanet:391641]
synonym: "MODED syndrome type 1" EXACT [Orphanet:391641]
synonym: "MYCN Feingold syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:391641]
synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280]
synonym: "Oded syndrome" RELATED [OMIM:164280]
synonym: "ODED syndrome type 1" EXACT [Orphanet:391641]
xref: ICD10:Q87.8 {source="ORDO:391641/attributed", source="ORDO:391641/ntbt", source="Orphanet:391641"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:164280 {source="MONDO:equivalentTo", source="ORDO:391641/e", source="Orphanet:391641"}
xref: Orphanet:391641 {source="OMIM:164280", source="MONDO:equivalentTo"}
xref: SCTID:702431004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
xref: UMLS:CN204984 {source="MONDO:equivalentTo"}
is_a: MONDO:0015267 {source="DC-OMIM:164280", source="MONDO:Redundant", source="OMIM:164280", source="Orphanet:391641"} ! Feingold syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796068
property_value: exactMatch http://identifiers.org/omim/164280
property_value: exactMatch http://identifiers.org/snomedct/702431004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204984
property_value: exactMatch Orphanet:391641

[Term]
id: MONDO:0008116
name: oculopharyngeal muscular dystrophy
def: "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." [Orphanet:270]
subset: gard_rare {source="GARD:0007245"}
subset: ordo_disease {source="Orphanet:270"}
synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719, MTHICD9_2006:359.1, OMIM:164300]
synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300]
synonym: "oculopharyngeal muscular dystrophy; OPMD" RELATED [OMIM:164300]
synonym: "OPMD" EXACT [MONDO:Lexical, OMIM:164300, Orphanet:270]
xref: DOID:11719 {source="MONDO:equivalentTo"}
xref: GARD:0007245 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:270/ntbt", source="Orphanet:270", source="ORDO:270/inclusion", source="DOID:11719"}
xref: MedDRA:10052181 {source="ORDO:270/e", source="Orphanet:270"}
xref: MESH:D039141 {source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="MONDO:ontobio"}
xref: NCIT:C84942 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11719"}
xref: OMIM:164300 {source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719"}
xref: Orphanet:270 {source="MONDO:equivalentTo", source="OMIM:164300"}
xref: SCTID:77097004 {source="MONDO:equivalentTo", source="DOID:11719", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270952 {source="NCBI:mim2gene_medline", source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="OMIM:164300", source="DOID:11719"}
is_a: MONDO:0004746 {source="DOID:11719", source="linkedlifedata"} ! myopathy of extraocular muscle
is_a: MONDO:0016106 {source="Orphanet:270"} ! progressive muscular dystrophy
is_a: MONDO:0020169 {source="Orphanet:270"} ! rare disorder with ptosis
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0244252
property_value: exactMatch DOID:11719
property_value: exactMatch http://identifiers.org/meddra/10052181
property_value: exactMatch http://identifiers.org/mesh/D039141
property_value: exactMatch http://identifiers.org/omim/164300
property_value: exactMatch http://identifiers.org/snomedct/77097004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270952
property_value: exactMatch NCIT:C84942
property_value: exactMatch Orphanet:270
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy xsd:anyURI {source="GARD:0007245"}

[Term]
id: MONDO:0008117
name: obsolete oculopharyngodistal myopathy
comment: obsoleted as it was ambiguous as to whether it references the generic grouping or type 1
is_obsolete: true
replaced_by: MONDO:0020793

[Term]
id: MONDO:0008118
name: odontomatosis-aortae esophagus stenosis syndrome
def: "odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." [Orphanet:2724]
subset: ordo_malformation_syndrome {source="Orphanet:2724"}
synonym: "boder syndrome" EXACT [Orphanet:2724]
synonym: "odontoma dysphagia syndrome" RELATED [GARD:0000238]
synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330]
synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238]
xref: GARD:0000238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537740 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="ORDO:2724/e"}
xref: Orphanet:2724 {source="MONDO:equivalentTo", source="OMIM:164330"}
xref: SCTID:716180009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1834013 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2724", source="OMIM:164330", source="ORDO:2724/e"}
is_a: MONDO:0015336 {source="Orphanet:2724"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C537740
property_value: exactMatch http://identifiers.org/omim/164330
property_value: exactMatch http://identifiers.org/snomedct/716180009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834013
property_value: exactMatch Orphanet:2724

[Term]
id: MONDO:0008119
name: spinocerebellar ataxia type 1
def: "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." [Orphanet:98755]
subset: ordo_disease {source="Orphanet:98755"}
synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern]
synonym: "cerebelloparenchymal disorder 1" RELATED [OMIM:164400]
synonym: "Menzel type OPCA" RELATED [OMIM:164400]
synonym: "olivopontocerebellar atrophy 1" RELATED [OMIM:164400]
synonym: "olivopontocerebellar atrophy 4" RELATED [OMIM:164400]
synonym: "OPCA 1" RELATED [OMIM:164400]
synonym: "OPCA 4" RELATED [OMIM:164400]
synonym: "OPCA1" RELATED [GARD:0004071]
synonym: "OPCA4" RELATED [GARD:0004071]
synonym: "Sca1" EXACT [MONDO:Lexical, OMIM:164400, Orphanet:98755]
synonym: "Schut-haymaker type OPCA" RELATED [OMIM:164400]
synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical, OMIM:164400]
synonym: "spinocerebellar ataxia 1; Sca1" RELATED [OMIM:164400]
synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400]
synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400]
xref: DOID:0050954 {source="MONDO:equivalentTo"}
xref: GARD:0004071 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:98755", source="ORDO:98755/attributed", source="ORDO:98755/ntbt"}
xref: NCIT:C129982 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:164400 {source="ORDO:98755/e", source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954"}
xref: Orphanet:98755 {source="MONDO:equivalentTo", source="OMIM:164400"}
xref: SCTID:715748006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752120 {source="ORDO:98755/e", source="NCIT:C129982", source="NCBI:mim2gene_medline", source="Orphanet:98755", source="MONDO:equivalentTo", source="OMIM:164400"}
is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050954
property_value: exactMatch http://identifiers.org/omim/164400
property_value: exactMatch http://identifiers.org/snomedct/715748006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752120
property_value: exactMatch NCIT:C129982
property_value: exactMatch Orphanet:98755

[Term]
id: MONDO:0008120
name: spinocerebellar ataxia type 7
def: "Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness." [Orphanet:94147]
subset: ordo_disease {source="Orphanet:94147"}
synonym: "Adca, type 2" RELATED [OMIM:164500]
synonym: "ADCA, type II" RELATED [GARD:0004955]
synonym: "ataxia with pigmentary retinopathy" EXACT [Orphanet:94147]
synonym: "ATXN7 autosomal dominant cerebellar ataxia type II" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant cerebellar ataxia, type 2" RELATED [OMIM:164500]
synonym: "cerebellar syndrome-pigmentary maculopathy syndrome" EXACT [Orphanet:94147]
synonym: "olivopontocerebellar atrophy 3" RELATED [OMIM:164500]
synonym: "OPCA 3" RELATED [OMIM:164500]
synonym: "OPCA III" RELATED [GARD:0004955]
synonym: "OPCA with macular Degeneration and external ophthalmoplegia" RELATED [OMIM:164500]
synonym: "OPCA with retinal Degeneration" RELATED [OMIM:164500]
synonym: "OPCA3" RELATED [GARD:0004955]
synonym: "SCA7" EXACT [MONDO:Lexical, OMIM:164500, Orphanet:94147]
synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical, OMIM:164500]
synonym: "spinocerebellar ataxia 7; SCA7" RELATED [OMIM:164500]
synonym: "spinocerebellar ataxia type 7" EXACT [MONDORULE:1, OMIM:164500]
xref: DOID:0050958 {source="MONDO:equivalentTo"}
xref: GARD:0004955 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:94147", source="ORDO:94147/attributed", source="ORDO:94147/ntbt"}
xref: NCIT:C126562 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:164500 {source="ORDO:94147/e", source="Orphanet:94147", source="MONDO:equivalentTo", source="DOID:0050958"}
xref: Orphanet:94147 {source="MONDO:equivalentTo", source="OMIM:164500"}
xref: SCTID:715726000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752125 {source="ORDO:94147/e", source="Orphanet:94147", source="NCBI:mim2gene_medline", source="NCIT:C126562", source="MONDO:equivalentTo", source="OMIM:164500"}
is_a: MONDO:0016163 {source="MONDO:Redundant", source="Orphanet:94147"} ! autosomal dominant cerebellar ataxia type II
property_value: exactMatch DOID:0050958
property_value: exactMatch http://identifiers.org/omim/164500
property_value: exactMatch http://identifiers.org/snomedct/715726000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752125
property_value: exactMatch NCIT:C126562
property_value: exactMatch Orphanet:94147

[Term]
id: MONDO:0008121
name: onychogryposis, pedal, with keratosis plantaris and coarse hair
synonym: "onychogryposis, pedal, with keratosis plantaris and coarse hair" EXACT [OMIM:164680]
xref: MESH:C563506 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164680 {source="MONDO:equivalentTo"}
xref: UMLS:C1833997 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164680"}
is_a: MONDO:0003847 {source="MESH:C563506/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563506
property_value: exactMatch http://identifiers.org/omim/164680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833997

[Term]
id: MONDO:0008122
name: olivopontocerebellar atrophy 5
synonym: "olivopontocerebellar atrophy type 5" EXACT [MONDORULE:1, OMIM:164700]
synonym: "olivopontocerebellar atrophy V; OPCA V" RELATED [OMIM:164700]
synonym: "OPCA V" RELATED [OMIM:164700]
synonym: "OPCA with dementia and extrapyramidal signs" RELATED [OMIM:164700]
xref: MESH:C563505 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164700 {source="MONDO:equivalentTo"}
xref: UMLS:C1833995 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164700"}
is_a: MONDO:0003847 {source="MESH:C563505/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563505
property_value: exactMatch http://identifiers.org/omim/164700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833995

[Term]
id: MONDO:0008123
name: autosomal dominant omodysplasia
def: "Autosomal dominant form of omodysplasia." [MONDO:patterns/autosomal_dominant]
subset: ordo_clinical_subtype {source="Orphanet:93328"}
synonym: "OMOD2" RELATED [MONDO:Lexical, OMIM:164745]
synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745]
synonym: "omodysplasia 2; OMOD2" RELATED [OMIM:164745]
synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745]
xref: GARD:0003643 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:93328/attributed", source="ORDO:93328/ntbt", source="Orphanet:93328"}
xref: MESH:C567664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164745 {source="MONDO:equivalentTo", source="ORDO:93328/e", source="Orphanet:93328"}
xref: Orphanet:93328 {source="OMIM:164745", source="MONDO:equivalentTo"}
xref: SCTID:725165009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017136 {source="DC-OMIM:164745", source="MONDO:Redundant", source="Orphanet:93328"} ! omodysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750355
property_value: exactMatch http://identifiers.org/mesh/C567664
property_value: exactMatch http://identifiers.org/omim/164745
property_value: exactMatch http://identifiers.org/snomedct/725165009
property_value: exactMatch Orphanet:93328

[Term]
id: MONDO:0008124
name: omphalocele, autosomal
synonym: "chromosome 1P31 Duplication syndrome" RELATED [OMIM:164750]
synonym: "omphalocele, autosomal" EXACT [OMIM:164750]
synonym: "paraomphalocele" RELATED [GARD:0004218]
synonym: "type - epigastric - defect in the cephalic fold" RELATED [GARD:0004218]
synonym: "type - hypogastric - defect in the caudal fold" RELATED [GARD:0004218]
xref: GARD:0004218 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:164750 {source="MONDO:equivalentTo"}
xref: UMLS:C3277235 {source="MONDO:equivalentTo", source="OMIM:164750"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019015 {source="DC-OMIM:164750"} ! omphalocele (disease)
property_value: exactMatch http://identifiers.org/omim/164750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3277235

[Term]
id: MONDO:0008125
name: nonsyndromic congenital nail disorder 5
synonym: "nail disorder, nonsyndromic congenital, 5" RELATED [MONDO:Lexical, OMIM:164800]
synonym: "nail disorder, nonsyndromic congenital, 5; NDNC5" RELATED [OMIM:164800]
synonym: "NDNC5" RELATED [MONDO:Lexical, OMIM:164800]
synonym: "nonsyndromic congenital nail disorder type 5" EXACT [DOID:0080083, MONDORULE:1]
synonym: "onycholysis, hereditary distal" RELATED [OMIM:164800]
synonym: "onycholysis, partial, with scleronychia" RELATED [OMIM:164800]
xref: DOID:0080083 {source="MONDO:equivalentTo"}
xref: MESH:C563503 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164800 {source="MONDO:equivalentTo", source="DOID:0080083"}
xref: UMLS:C1833909 {source="OMIM:164800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019284 {source="DC-OMIM:164800", source="OMIM:164800"} ! inherited isolated nail anomaly
property_value: exactMatch DOID:0080083
property_value: exactMatch http://identifiers.org/mesh/C563503
property_value: exactMatch http://identifiers.org/omim/164800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833909

[Term]
id: MONDO:0008126
name: oncogene Yuasa
synonym: "oncogene Yuasa" EXACT [OMIM:164891]
xref: OMIM:164891 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833883
property_value: exactMatch http://identifiers.org/omim/164891

[Term]
id: MONDO:0008127
name: ophthalmomandibulomelic dysplasia
def: "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." [Orphanet:2741]
subset: ordo_malformation_syndrome {source="Orphanet:2741"}
synonym: "OMM syndrome" EXACT [Orphanet:2741]
synonym: "Omm syndrome" RELATED [OMIM:164900]
synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365]
synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900]
synonym: "Pillay syndrome" EXACT [Orphanet:2741]
xref: GARD:0004365 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2741", source="ORDO:2741/attributed", source="ORDO:2741/ntbt"}
xref: MESH:C563501 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:164900 {source="ORDO:2741/e", source="Orphanet:2741", source="MONDO:equivalentTo"}
xref: Orphanet:2741 {source="OMIM:164900", source="MONDO:equivalentTo"}
xref: SCTID:715484003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833872 {source="OMIM:164900", source="NCBI:mim2gene_medline", source="Orphanet:2741", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:2741"} ! syndromic developmental defect of the eye
is_a: MONDO:0020215 {source="Orphanet:2741"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563501
property_value: exactMatch http://identifiers.org/omim/164900
property_value: exactMatch http://identifiers.org/snomedct/715484003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833872
property_value: exactMatch Orphanet:2741

[Term]
id: MONDO:0008128
name: ophthalmoplegia, familial static
synonym: "external ophthalmoplegia, nonprogressive, congenital hereditary" RELATED [OMIM:165000]
synonym: "ophthalmoplegia, familial static" EXACT [OMIM:165000]
xref: MESH:C563500 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563500
property_value: exactMatch http://identifiers.org/omim/165000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833839

[Term]
id: MONDO:0008129
name: ophthalmoplegia, familial total, with iris transillumination
synonym: "ophthalmoplegia, familial total, with iris transillumination" EXACT [OMIM:165098]
xref: MESH:C563499 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165098 {source="MONDO:equivalentTo"}
xref: UMLS:C1833836 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165098"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563499
property_value: exactMatch http://identifiers.org/omim/165098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833836

[Term]
id: MONDO:0008130
name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2743"}
synonym: "Levic Stefanovic Nikolic syndrome" RELATED [GARD:0003236]
synonym: "Levic-Stefanovic-Nikolic syndrome" EXACT [Orphanet:2743]
synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [OMIM:165150]
synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236]
xref: GARD:0003236 {source="MONDO:equivalentTo"}
xref: MESH:C563498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165150 {source="GARD:0003236", source="ORDO:2743/e", source="MONDO:equivalentTo", source="Orphanet:2743"}
xref: Orphanet:2743 {source="GARD:0003236", source="OMIM:165150", source="MONDO:equivalentTo"}
xref: UMLS:C1833835 {source="OMIM:165150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2743", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2743", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2743"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563498
property_value: exactMatch http://identifiers.org/omim/165150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833835
property_value: exactMatch Orphanet:2743
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome xsd:anyURI {source="GARD:0003236"}

[Term]
id: MONDO:0008131
name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" EXACT [OMIM:165199]
xref: MESH:C563497 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165199 {source="MONDO:equivalentTo"}
xref: UMLS:C1833831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165199"}
is_a: MONDO:0014720 {source="ORDO:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome
property_value: exactMatch http://identifiers.org/mesh/C563497
property_value: exactMatch http://identifiers.org/omim/165199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833831

[Term]
id: MONDO:0008132
name: optic atrophy with demyelinating disease of CNS
synonym: "optic atrophy with demyelinating disease of CNS" EXACT [OMIM:165200]
xref: MESH:C563496 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165200 {source="MONDO:equivalentTo"}
xref: UMLS:C1833830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165200"}
is_a: MONDO:0020478 {source="ORDO:99718/btnt"} ! Leber plus disease
property_value: exactMatch http://identifiers.org/mesh/C563496
property_value: exactMatch http://identifiers.org/omim/165200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833830

[Term]
id: MONDO:0008133
name: optic atrophy 3
subset: gard_rare {source="GARD:0010203"}
subset: ordo_disease {source="Orphanet:67036"}
synonym: "autosomal dominant optic atrophy type 3" EXACT [Orphanet:67036]
synonym: "OPA3" RELATED [MONDO:Lexical, OMIM:165300]
synonym: "OPA3, autosomal dominant" EXACT [Orphanet:67036]
synonym: "optic atrophy 3" RELATED [GARD:0010203]
synonym: "optic atrophy 3 with cataract" RELATED [GARD:0010203]
synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:165300]
synonym: "optic atrophy 3, autosomal dominant; OPA3" RELATED [OMIM:165300]
synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300]
synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203]
xref: GARD:0010203 {source="MONDO:equivalentTo"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="ORDO:67036/attributed", source="ORDO:67036/ntbt", source="Orphanet:67036"}
xref: MESH:C537128 {source="MONDO:equivalentTo", source="ORDO:67036/e", source="MONDO:ontobio", source="Orphanet:67036"}
xref: OMIM:165300 {source="MONDO:equivalentTo", source="ORDO:67036/e", source="Orphanet:67036"}
xref: Orphanet:67036 {source="MONDO:equivalentTo", source="OMIM:165300"}
xref: SCTID:719517009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833809 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:67036/e", source="OMIM:165300", source="Orphanet:67036"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016799 {source="Orphanet:67036"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:67036", source="linkedlifedata"} ! autosomal dominant optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C537128
property_value: exactMatch http://identifiers.org/omim/165300
property_value: exactMatch http://identifiers.org/snomedct/719517009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833809
property_value: exactMatch Orphanet:67036
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract xsd:anyURI {source="GARD:0010203"}

[Term]
id: MONDO:0008134
name: autosomal dominant optic atrophy, classic form
def: "Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy (see this term) characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects." [Orphanet:98673]
subset: ordo_disease {source="Orphanet:98673"}
synonym: "autosomal dominant optic atrophy, Kjer type" EXACT [Orphanet:98673]
synonym: "Kjer optic atrophy" EXACT [Orphanet:98673]
synonym: "Kjer-type optic atrophy" RELATED [OMIM:165500]
synonym: "OAK" RELATED [GARD:0009890]
synonym: "OPA1" RELATED [MONDO:Lexical, OMIM:165500]
synonym: "optic atrophy 1" RELATED [MONDO:Lexical, OMIM:165500]
synonym: "optic atrophy 1; OPA1" RELATED [OMIM:165500]
synonym: "optic atrophy type 1" EXACT [MONDORULE:1, OMIM:165500, Orphanet:98673]
synonym: "optic atrophy, juvenile" RELATED [OMIM:165500]
synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500]
xref: GARD:0009890 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="ORDO:98673/attributed", source="ORDO:98673/ntbt", source="Orphanet:98673"}
xref: OMIM:165500 {source="MONDO:equivalentTo", source="ORDO:98673/e", source="Orphanet:98673"}
xref: Orphanet:98673 {source="MONDO:equivalentTo", source="OMIM:165500"}
xref: SCTID:717336005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.67"}
xref: UMLS:CN207069 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016799 {source="Orphanet:98673"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:98673", source="linkedlifedata"} ! autosomal dominant optic atrophy
property_value: exactMatch http://identifiers.org/omim/165500
property_value: exactMatch http://identifiers.org/snomedct/717336005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207069
property_value: exactMatch Orphanet:98673

[Term]
id: MONDO:0008135
name: optic atrophy with negative Electroretinograms
synonym: "optic atrophy with negative Electroretinograms" EXACT [OMIM:165510]
xref: MESH:C563494 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165510 {source="MONDO:equivalentTo"}
xref: UMLS:C1833799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165510"}
is_a: MONDO:0003847 {source="MESH:C563494/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563494
property_value: exactMatch http://identifiers.org/omim/165510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833799

[Term]
id: MONDO:0008136
name: isolated optic nerve hypoplasia
subset: ordo_disease {source="Orphanet:137902"}
synonym: "familial bilateral optic nerve hypoplasia" RELATED [GARD:0008419]
synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [Orphanet:137902]
synonym: "optic nerve aplasia, bilateral" RELATED [OMIM:165550]
synonym: "optic nerve hypoplasia, bilateral" RELATED [OMIM:165550]
synonym: "optic nerve hypoplasia, familial bilateral" RELATED [GARD:0008419]
xref: GARD:0008419 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H47.0 {source="ORDO:137902/attributed", source="ORDO:137902/ntbt", source="Orphanet:137902"}
xref: OMIM:165550 {source="MONDO:equivalentTo", source="ORDO:137902/e", source="Orphanet:137902"}
xref: Orphanet:137902 {source="MONDO:equivalentTo", source="OMIM:165550"}
xref: SCTID:724999003 {source="MONDO:equivalentTo"}
xref: UMLS:C1833797 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165550"}
xref: UMLS:C4510723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020249 {source="Orphanet:137902"} ! hereditary optic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338502
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833798
property_value: exactMatch http://identifiers.org/omim/165550
property_value: exactMatch http://identifiers.org/snomedct/724999003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833797
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510723
property_value: exactMatch Orphanet:137902

[Term]
id: MONDO:0008137
name: orofaciodigital syndrome X
def: "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." [Orphanet:2756]
subset: gard_rare {source="GARD:0004061"}
subset: ordo_malformation_syndrome {source="Orphanet:2756"}
synonym: "Figuera syndrome" EXACT [Orphanet:2756]
synonym: "OFD syndrome 10" RELATED [GARD:0004061]
synonym: "OFD10" EXACT [DOID:0060380, MONDO:Lexical, OMIM:165590, Orphanet:2756]
synonym: "Ofds 10" RELATED [OMIM:165590]
synonym: "oral facial digital syndrome 10" RELATED [GARD:0004061]
synonym: "oral facial digital syndrome type 10" RELATED [GARD:0004061]
synonym: "oral-facial-digital syndrome 10" RELATED [GARD:0004061]
synonym: "oral-facial-digital syndrome type 10" EXACT [Orphanet:2756]
synonym: "oral-Facial-digital syndrome with fibular aplasia" RELATED [OMIM:165590]
synonym: "oral-Facial-digital syndrome, type 10" RELATED [OMIM:165590]
synonym: "orofaciodigital syndrome 10" RELATED [GARD:0004061]
synonym: "orofaciodigital syndrome type 10" EXACT [MONDORULE:2, OMIM:165590]
synonym: "orofaciodigital syndrome type Figuera" RELATED [GARD:0004061]
synonym: "orofaciodigital syndrome type X" EXACT [DOID:0060380, MONDORULE:1]
synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590, Orphanet:2756]
synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590]
synonym: "orofaciodigital syndrome X; OFD10" RELATED [OMIM:165590]
xref: DOID:0060380 {source="MONDO:equivalentTo"}
xref: GARD:0004061 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2756/attributed", source="ORDO:2756/ntbt", source="Orphanet:2756", source="DOID:0060380"}
xref: MESH:C563491 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060380"}
xref: OMIM:165590 {source="MONDO:equivalentTo", source="ORDO:2756/e", source="Orphanet:2756", source="DOID:0060380"}
xref: Orphanet:2756 {source="OMIM:165590", source="MONDO:equivalentTo", source="DOID:0060380"}
xref: SCTID:722075004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.18"}
xref: UMLS:C1833796 {source="MEDGEN:kboom-pr98-c99", source="OMIM:165590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2756"}
is_a: MONDO:0000508 {source="Orphanet:2756"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015375 {source="DC-OMIM:165590", source="DOID:0060380", source="MESH:C563491", source="Orphanet:2756", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060380
property_value: exactMatch http://identifiers.org/mesh/C563491
property_value: exactMatch http://identifiers.org/omim/165590
property_value: exactMatch http://identifiers.org/snomedct/722075004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833796
property_value: exactMatch Orphanet:2756
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 xsd:anyURI {source="GARD:0004061"}

[Term]
id: MONDO:0008138
name: syndromic orbital border hypoplasia
def: "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." [Orphanet:98606]
subset: ordo_malformation_syndrome {source="Orphanet:98606"}
synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600]
synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606]
xref: MESH:C563490 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165600 {source="MONDO:equivalentTo", source="ORDO:98606/e", source="Orphanet:98606"}
xref: Orphanet:98606 {source="MONDO:equivalentTo", source="OMIM:165600"}
xref: SCTID:717337001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98606", source="MEDGEN:kboom-pr92-c96", source="OMIM:165600"}
xref: UMLS:C4273912 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0020195 {source="Orphanet:98606"} ! excretory apparatus of the lacrimal system anomaly
property_value: exactMatch http://identifiers.org/mesh/C563490
property_value: exactMatch http://identifiers.org/omim/165600
property_value: exactMatch http://identifiers.org/snomedct/717337001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833795
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273912
property_value: exactMatch Orphanet:98606

[Term]
id: MONDO:0008139
name: OSLAM syndrome
def: "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." [Orphanet:2760]
subset: ordo_malformation_syndrome {source="Orphanet:2760"}
synonym: "OSLAM syndrome" EXACT [OMIM:165660]
synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" RELATED [GARD:0004129]
synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660]
synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660]
synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760]
xref: GARD:0004129 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C41.9 {source="Orphanet:2760", source="ORDO:2760/attributed", source="ORDO:2760/ntbt"}
xref: MESH:C537138 {source="Orphanet:2760", source="ORDO:2760/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165660 {source="Orphanet:2760", source="ORDO:2760/e", source="MONDO:equivalentTo"}
xref: Orphanet:2760 {source="MONDO:equivalentTo", source="OMIM:165660"}
xref: SCTID:733064004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833792 {source="Orphanet:2760", source="ORDO:2760/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165660"}
is_a: MONDO:0019060 {source="Orphanet:2760", source="indirect"} ! bone neoplasm
is_a: MONDO:0019715 {source="Orphanet:2760"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/mesh/C537138
property_value: exactMatch http://identifiers.org/omim/165660
property_value: exactMatch http://identifiers.org/snomedct/733064004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833792
property_value: exactMatch Orphanet:2760

[Term]
id: MONDO:0008140
name: ossified ear cartilages
synonym: "ossified ear cartilages" EXACT [OMIM:165670]
xref: MESH:C563488 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165670 {source="MONDO:equivalentTo"}
xref: UMLS:C1833791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165670"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563488
property_value: exactMatch http://identifiers.org/omim/165670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833791

[Term]
id: MONDO:0008141
name: ossicular malformations, familial
subset: gard_rare {source="GARD:0008184"}
synonym: "familial middle ear ossicular anomalies" RELATED [GARD:0008184]
synonym: "familial ossicular malformations" RELATED [GARD:0008184]
synonym: "ossicular malformations, familial" EXACT [OMIM:165680]
xref: GARD:0008184 {source="MONDO:equivalentTo"}
xref: MESH:C537142 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165680 {source="MONDO:equivalentTo"}
xref: UMLS:C1833790 {source="OMIM:165680", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537142
property_value: exactMatch http://identifiers.org/omim/165680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833790
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial xsd:anyURI {source="GARD:0008184"}

[Term]
id: MONDO:0008142
name: Thiemann disease, familial form
def: "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." [Orphanet:3314]
subset: ordo_disease {source="Orphanet:3314"}
synonym: "aseptic necrosis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "osteoarthropathy of fingers familial" RELATED [GARD:0004131]
synonym: "osteoarthropathy of fingers, familial" RELATED [OMIM:165700]
synonym: "osteochondritis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "Osteochondrosis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "THIEMANN disease" RELATED [OMIM:165700]
synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700]
synonym: "Thiemann's disease" RELATED [GARD:0004131]
xref: GARD:0004131 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M93.2 {source="Orphanet:3314", source="ORDO:3314/attributed", source="ORDO:3314/ntbt"}
xref: ICD9:716.84 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537144 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:165700 {source="Orphanet:3314", source="ORDO:3314/e", source="MONDO:equivalentTo"}
xref: Orphanet:3314 {source="MONDO:equivalentTo", source="OMIM:165700"}
xref: SCTID:55166000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0264081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165700"}
is_a: MONDO:0018385 {source="Orphanet:3314"} ! osteochondrosis of genetic origin
property_value: exactMatch http://identifiers.org/mesh/C537144
property_value: exactMatch http://identifiers.org/omim/165700
property_value: exactMatch http://identifiers.org/snomedct/55166000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264081
property_value: exactMatch Orphanet:3314

[Term]
id: MONDO:0008143
name: osteoarthritis susceptibility 1
def: "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "FRZB osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Oa" RELATED [OMIM:165720]
synonym: "OS1" RELATED [MONDO:Lexical, OMIM:165720]
synonym: "osteoarthritis caused by mutation in FRZB" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of hip, female-specific, susceptibility to" RELATED [OMIM:165720]
synonym: "osteoarthritis susceptibility 1" EXACT [MONDO:Lexical, OMIM:165720]
synonym: "osteoarthritis susceptibility 1; OS1" RELATED [OMIM:165720]
synonym: "osteoarthritis susceptibility type 1" EXACT [MONDORULE:1, OMIM:165720]
synonym: "osteoarthrosis" RELATED [OMIM:165720]
xref: ICD9:715.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:715.98 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:165720 {source="MONDO:equivalentTo"}
xref: SCTID:396275006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.34/0.08"}
xref: UMLS:C0029408 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165720"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005178 ! osteoarthritis
property_value: exactMatch http://identifiers.org/omim/165720
property_value: exactMatch http://identifiers.org/snomedct/396275006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029408

[Term]
id: MONDO:0008144
name: obsolete osteochondritis dissecans
is_obsolete: true
replaced_by: MONDO:0017178

[Term]
id: MONDO:0008145
name: Ollier disease
def: "Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." [Orphanet:296]
subset: gard_rare {source="GARD:0007251"}
subset: ordo_disease {source="Orphanet:296"}
synonym: "dyschondroplasia" EXACT [DOID:4624, OMIM:166000, Orphanet:296]
synonym: "enchondromatosis" RELATED [GARD:0007251]
synonym: "enchondromatosis with haemangiomata" EXACT [DOID:4624]
synonym: "enchondromatosis, multiple" EXACT [DOID:4624]
synonym: "enchondromatosis, multiple, Ollier type" RELATED [OMIM:166000]
synonym: "Kast's syndrome" EXACT [DOID:4624]
synonym: "multiple cartilaginous enchondroses" RELATED [GARD:0007251]
synonym: "multiple enchondromatosis" RELATED [GARD:0007251]
synonym: "Ollier disease" EXACT [OMIM:166000, Orphanet:296]
synonym: "Ollier's disease" EXACT [NCIT:C3008]
synonym: "osteochondromatosis" EXACT [DOID:4624]
xref: DOID:4624 {source="MONDO:equivalentTo"}
xref: GARD:0007251 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.4 {source="DOID:4624", source="ORDO:296/e", source="Orphanet:296", source="ORDO:296/specific"}
xref: MedDRA:10014642 {source="ORDO:296/e", source="Orphanet:296"}
xref: NCIT:C3008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.82/1.11"}
xref: OMIM:166000 {source="DOID:4624", source="MONDO:equivalentTo", source="ORDO:296/e", source="Orphanet:296"}
xref: Orphanet:296 {source="DOID:4624", source="MONDO:equivalentTo", source="OMIM:166000"}
xref: SCTID:268274005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.47/0.05"}
xref: UMLS:C0014084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166000", source="ORDO:296/e", source="Orphanet:296", source="NCIT:C3008"}
xref: UMLS:C0206641 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN203308 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0015356 {source="Orphanet:296"} ! hereditary neoplastic syndrome
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0019708 {source="Orphanet:296"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0019716 {source="Orphanet:296"} ! overgrowth syndrome
is_a: MONDO:0020063 {source="Orphanet:296"} ! malformation syndrome with hamartosis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: disease_has_feature MONDO:0000631 {source="NCIT:C3008"} ! bone benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/205470006
property_value: closeMatch http://identifiers.org/snomedct/234135008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013366
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3463923
property_value: exactMatch DOID:4624
property_value: exactMatch http://identifiers.org/meddra/10014642
property_value: exactMatch http://identifiers.org/mesh/D004687
property_value: exactMatch http://identifiers.org/omim/166000
property_value: exactMatch http://identifiers.org/snomedct/268274005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203308
property_value: exactMatch NCIT:C3008
property_value: exactMatch Orphanet:296
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7251/ollier-disease xsd:anyURI {source="GARD:0007251"}

[Term]
id: MONDO:0008146
name: osteogenesis imperfecta type 1
def: "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." [Orphanet:216796]
comment: Editor note: we follow ordo and place van der hoeve as exact synonym
subset: ordo_clinical_subtype {source="Orphanet:216796"}
synonym: "Adair-Dighton syndrome" EXACT [Orphanet:216796]
synonym: "classic non-deforming OI with blue sclerae" RELATED [GARD:0008694]
synonym: "mild osteogenesis imperfecta" EXACT [Orphanet:216796]
synonym: "non-deforming osteogenesis imperfecta" EXACT [Orphanet:216796]
synonym: "OI type 1" EXACT [Orphanet:216796]
synonym: "OI, type 1" RELATED [OMIM:166200]
synonym: "OI1" EXACT [DOID:0110334]
synonym: "osteogenesis imperfecta tarda" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta type I" EXACT [DOID:0110334]
synonym: "osteogenesis imperfecta with blue sclerae" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta, type 1" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta, type I; OI1" RELATED [OMIM:166200]
synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796]
xref: DOID:0110334 {source="MONDO:equivalentTo"}
xref: GARD:0008694 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="ORDO:216796/attributed", source="ORDO:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"}
xref: NCIT:C99003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:166200 {source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796", source="ORDO:216796/e"}
xref: Orphanet:216796 {source="MONDO:equivalentTo", source="OMIM:166200", source="DOID:0110334"}
xref: SCTID:385482004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN201103 {source="MONDO:equivalentTo"}
xref: UMLS:CN536249 {source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:166200", source="DOID:0110334", source="NCIT:C99003", source="OMIM:166200", source="Orphanet:216796", source="linkedlifedata"} ! osteogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023931
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674706
property_value: exactMatch DOID:0110334
property_value: exactMatch http://identifiers.org/omim/166200
property_value: exactMatch http://identifiers.org/snomedct/385482004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536249
property_value: exactMatch NCIT:C99003
property_value: exactMatch Orphanet:216796

[Term]
id: MONDO:0008147
name: osteogenesis imperfecta type 2
def: "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." [Orphanet:216804]
subset: ordo_clinical_subtype {source="Orphanet:216804"}
synonym: "lethal osteogenesis imperfecta" EXACT [Orphanet:216804]
synonym: "OI type 2" EXACT [Orphanet:216804]
synonym: "OI, type 2" RELATED [OMIM:166210]
synonym: "OI2" EXACT [DOID:0110341]
synonym: "osteogenesis imperfecta congenita" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta congenita perinatal lethal form" RELATED [GARD:0010142]
synonym: "osteogenesis imperfecta congenita, perinatal lethal form" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta type II" EXACT [DOID:0110341]
synonym: "osteogenesis imperfecta, type 2" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta, type II" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta, type II; OI2" RELATED [OMIM:166210]
synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [DOID:0110341]
synonym: "Perinatally lethal OI" RELATED [GARD:0010142]
synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210]
xref: DOID:0110341 {source="MONDO:equivalentTo"}
xref: GARD:0010142 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="ORDO:216804/attributed", source="ORDO:216804/ntbt", source="Orphanet:216804", source="DOID:0110341"}
xref: MESH:C536042 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="ORDO:216804/e", source="DOID:0110341"}
xref: Orphanet:216804 {source="MONDO:equivalentTo", source="OMIM:166210"}
xref: SCTID:86470003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.27/0.17"}
xref: UMLS:CN536250 {source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:166210", source="DOID:0110341", source="MESH:C536042", source="NCIT:C99001", source="OMIM:166210", source="Orphanet:216804", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268358
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268360
property_value: exactMatch DOID:0110341
property_value: exactMatch http://identifiers.org/mesh/C536042
property_value: exactMatch http://identifiers.org/omim/166210
property_value: exactMatch http://identifiers.org/snomedct/86470003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536250
property_value: exactMatch NCIT:C99001
property_value: exactMatch Orphanet:216804

[Term]
id: MONDO:0008148
name: osteogenesis imperfecta type 4
def: "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." [Orphanet:216820]
subset: ordo_clinical_subtype {source="Orphanet:216820"}
synonym: "common variable OI with normal sclerae" RELATED [GARD:0008696]
synonym: "OI type 4" EXACT [Orphanet:216820]
synonym: "OI type IV" RELATED [GARD:0008696]
synonym: "OI, type 4" RELATED [OMIM:166220]
synonym: "OI4" EXACT [DOID:0110340, OMIM:166220]
synonym: "osteogenesis imperfecta type IV" EXACT [DOID:0110340]
synonym: "osteogenesis imperfecta with normal sclera" EXACT [DOID:0110340]
synonym: "osteogenesis imperfecta with normal sclerae" RELATED [OMIM:166220]
synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220]
synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220]
synonym: "osteogenesis imperfecta, type IV; OI4" RELATED [OMIM:166220]
xref: DOID:0110340 {source="MONDO:equivalentTo"}
xref: GARD:0008696 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216820", source="ORDO:216820/attributed", source="ORDO:216820/ntbt", source="DOID:0110340"}
xref: MESH:C536045 {source="Orphanet:216820", source="ORDO:216820/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98576 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:166220 {source="Orphanet:216820", source="ORDO:216820/e", source="MONDO:equivalentTo", source="DOID:0110340"}
xref: Orphanet:216820 {source="MONDO:equivalentTo", source="OMIM:166220"}
xref: SCTID:205497004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268363 {source="Orphanet:216820", source="ORDO:216820/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166220", source="NCIT:C98576"}
is_a: MONDO:0015669 {source="Orphanet:216820"} ! rare disease with dentinogenesis imperfecta
is_a: MONDO:0019019 {source="DC-OMIM:166220", source="DOID:0110340", source="MESH:C536045", source="NCIT:C98576", source="OMIM:166220", source="Orphanet:216820", source="linkedlifedata"} ! osteogenesis imperfecta
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0110340
property_value: exactMatch http://identifiers.org/mesh/C536045
property_value: exactMatch http://identifiers.org/omim/166220
property_value: exactMatch http://identifiers.org/snomedct/205497004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268363
property_value: exactMatch NCIT:C98576
property_value: exactMatch Orphanet:216820

[Term]
id: MONDO:0008149
name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
def: "An osteogenesis imperfecta found in a single South African family." [DOID:0110335, PMID:7241530]
synonym: "osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures" RELATED [OMIM:166230]
xref: DOID:0110335 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110335"}
xref: MESH:C563487 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166230 {source="DOID:0110335", source="MONDO:equivalentTo"}
xref: UMLS:C1833748 {source="OMIM:166230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008146 {source="ORDO:216796/btnt"} ! osteogenesis imperfecta type 1
property_value: exactMatch DOID:0110335
property_value: exactMatch http://identifiers.org/mesh/C563487
property_value: exactMatch http://identifiers.org/omim/166230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833748

[Term]
id: MONDO:0008150
name: osteoglophonic dwarfism
def: "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." [Orphanet:2645]
subset: ordo_malformation_syndrome {source="Orphanet:2645"}
synonym: "Fairbank-Keats syndrome" RELATED [GARD:0004142]
synonym: "OGD" RELATED [MONDO:Lexical, OMIM:166250]
synonym: "osteoglophonic dwarfism" EXACT [OMIM:166250]
synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250]
synonym: "OSTEOGLOPHONIC dysplasia; OGD" RELATED [OMIM:166250]
synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645]
xref: GARD:0004142 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:2645/attributed", source="ORDO:2645/ntbt", source="Orphanet:2645"}
xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="ORDO:2645/e", source="MONDO:ontobio"}
xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="ORDO:2645/e"}
xref: Orphanet:2645 {source="OMIM:166250", source="MONDO:equivalentTo"}
xref: SCTID:254144002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:2645"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C536050
property_value: exactMatch http://identifiers.org/omim/166250
property_value: exactMatch http://identifiers.org/snomedct/254144002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432283
property_value: exactMatch Orphanet:2645

[Term]
id: MONDO:0008151
name: gnathodiaphyseal dysplasia
def: "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." [Orphanet:53697]
subset: ordo_malformation_syndrome {source="Orphanet:53697"}
synonym: "GDD" EXACT [MONDO:Lexical, OMIM:166260, Orphanet:53697]
synonym: "gnathodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:166260]
synonym: "GNATHODIAPHYSEAL dysplasia; GDD" RELATED [OMIM:166260]
synonym: "Gnathodiaphyseal sclerosis" RELATED [OMIM:166260]
synonym: "Levin syndrome 2" RELATED [GARD:0008698]
synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698]
synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260]
xref: GARD:0008698 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="ORDO:53697/e"}
xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"}
xref: SCTID:715568002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833736 {source="MEDGEN:kboom-pr98-c99", source="OMIM:166260", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:53697"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0019708 {source="Orphanet:53697"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C536039
property_value: exactMatch http://identifiers.org/omim/166260
property_value: exactMatch http://identifiers.org/snomedct/715568002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833736
property_value: exactMatch Orphanet:53697

[Term]
id: MONDO:0008152
name: multicentric carpo-tarsal osteolysis with or without nephropathy
def: "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." [Orphanet:2774]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2774"}
synonym: "Carnevale canun Mendoza syndrome" RELATED [GARD:0003818]
synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [GARD:0003818, Orphanet:2774]
synonym: "MCTO" RELATED [MONDO:Lexical, OMIM:166300]
synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [GARD:0003818, GARD:0013042]
synonym: "multicentric carpotarsal osteolysis syndrome" RELATED [MONDO:Lexical, OMIM:166300]
synonym: "multicentric carpotarsal osteolysis syndrome; MCTO" RELATED [OMIM:166300]
synonym: "multicentric osteolysis nephropathy" RELATED [GARD:0003818]
synonym: "multicentric osteolysis, autosomal dominant" RELATED [OMIM:166300]
synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [OMIM:166300]
xref: GARD:0003818 {source="MONDO:equivalentTo"}
xref: GARD:0013042 {source="MONDO:equivalentTo"}
xref: MESH:C567171 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166300 {source="ORDO:2774/e", source="Orphanet:2774", source="MONDO:equivalentTo", source="GARD:0003818", source="GARD:0013042"}
xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source="GARD:0003818", source="GARD:0013042"}
xref: SCTID:766992008 {source="MONDO:equivalentTo"}
xref: UMLS:C2674705 {source="NCBI:mim2gene_medline", source="Orphanet:2774", source="MONDO:equivalentTo", source="OMIM:166300", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019707 {source="Orphanet:2774"} ! primary osteolysis
is_a: MONDO:0019721 {source="Orphanet:2774"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C567171
property_value: exactMatch http://identifiers.org/omim/166300
property_value: exactMatch http://identifiers.org/snomedct/766992008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674705
property_value: exactMatch Orphanet:2774
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy xsd:anyURI {source="GARD:0003818"}

[Term]
id: MONDO:0008153
name: progressive osseous heteroplasia
def: "gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." [Orphanet:2762]
subset: gard_rare {source="GARD:0000109"}
subset: ordo_malformation_syndrome {source="Orphanet:2762"}
synonym: "ectopic ossification familial type" RELATED [GARD:0000109]
synonym: "ectopic ossification, familial" RELATED [OMIM:166350]
synonym: "familial ectopic ossification" EXACT [Orphanet:2762]
synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical, OMIM:166350]
synonym: "osseous heteroplasia, progressive; poh" RELATED [OMIM:166350]
synonym: "osteoma cutis" RELATED [OMIM:166350]
synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762]
xref: GARD:0000109 {source="MONDO:equivalentTo"}
xref: ICD10:M61.5 {source="Orphanet:2762", source="ORDO:2762/attributed", source="ORDO:2762/ntbt"}
xref: MedDRA:10048902 {source="Orphanet:2762", source="ORDO:2762/e"}
xref: MESH:C562735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166350 {source="Orphanet:2762", source="ORDO:2762/e", source="MONDO:equivalentTo"}
xref: Orphanet:2762 {source="OMIM:166350", source="MONDO:equivalentTo"}
xref: SCTID:719271000 {source="MONDO:equivalentTo"}
xref: UMLS:C0334041 {source="Orphanet:2762", source="ORDO:2762/e", source="NCBI:mim2gene_medline", source="OMIM:166350", source="MONDO:equivalentTo"}
is_a: MONDO:0018231 {source="Orphanet:2762"} ! primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
is_a: MONDO:0018798 {source="Orphanet:2762"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:2762"} ! dermis disease
property_value: exactMatch http://identifiers.org/meddra/10048902
property_value: exactMatch http://identifiers.org/mesh/C562735
property_value: exactMatch http://identifiers.org/omim/166350
property_value: exactMatch http://identifiers.org/snomedct/719271000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334041
property_value: exactMatch Orphanet:2762
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia xsd:anyURI {source="GARD:0000109"}

[Term]
id: MONDO:0008154
name: osteomas of mandible
synonym: "osteomas of mandible" EXACT [OMIM:166400]
xref: MESH:C563485 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166400 {source="MONDO:equivalentTo"}
xref: UMLS:C1833733 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166400"}
is_a: MONDO:0005166 {source="MESH:C563485"} ! osteoma (disease)
is_a: MONDO:0021522 ! benign neoplasm of lower jaw bone
property_value: exactMatch http://identifiers.org/mesh/C563485
property_value: exactMatch http://identifiers.org/omim/166400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833733

[Term]
id: MONDO:0008155
name: osteomesopyknosis
def: "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." [Orphanet:2777]
subset: gard_rare {source="GARD:0000391"}
subset: ordo_malformation_syndrome {source="Orphanet:2777"}
synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777]
synonym: "osteomesopyknosis" EXACT [OMIM:166450]
xref: GARD:0000391 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.2 {source="ORDO:2777/attributed", source="ORDO:2777/ntbt", source="Orphanet:2777"}
xref: MESH:C537792 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="ORDO:2777/e"}
xref: Orphanet:2777 {source="OMIM:166450", source="MONDO:equivalentTo"}
xref: SCTID:254125009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432264 {source="MEDGEN:kboom-pr97-c99", source="OMIM:166450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2777", source="ORDO:2777/e"}
is_a: MONDO:0017198 {source="Orphanet:2777"} ! osteopetrosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C537792
property_value: exactMatch http://identifiers.org/omim/166450
property_value: exactMatch http://identifiers.org/snomedct/254125009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432264
property_value: exactMatch Orphanet:2777
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis xsd:anyURI {source="GARD:0000391"}

[Term]
id: MONDO:0008156
name: autosomal dominant osteopetrosis 2
def: "Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." [Orphanet:53]
subset: ordo_malformation_syndrome {source="Orphanet:53"}
synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [OMIM:166600]
synonym: "Albers-Schonberg osteopetrosis" EXACT [DOID:0110938]
synonym: "Albers-Schönberg osteopetrosis" EXACT [Orphanet:53]
synonym: "autosomal dominant Albers-Schonberg disease" EXACT [DOID:0110938]
synonym: "autosomal dominant osteopetrosis type 2" EXACT [DOID:0110938, MONDORULE:1]
synonym: "autosomal dominant osteopetrosis type II" EXACT [DOID:0110938]
synonym: "marble bones, autosomal dominant" RELATED [OMIM:166600]
synonym: "OPTA2" EXACT [DOID:0110938, MONDO:Lexical, OMIM:166600]
synonym: "osteopetrosis autosomal dominant type 2" EXACT [DOID:0110938, Orphanet:53]
synonym: "osteopetrosis, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:166600]
synonym: "osteopetrosis, autosomal dominant 2; OPTA2" RELATED [OMIM:166600]
synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:166600]
synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600]
synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600]
xref: DOID:0110938 {source="MONDO:equivalentTo"}
xref: GARD:0000383 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.2 {source="Orphanet:53", source="ORDO:53/inclusion", source="DOID:0110938", source="ORDO:53/ntbt"}
xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="DOID:0110938", source="ORDO:53/e"}
xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600"}
xref: SCTID:725050005 {source="MONDO:equivalentTo"}
xref: UMLS:C3179239 {source="Orphanet:53", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600", source="ORDO:53/e"}
is_a: MONDO:0020244 {source="Orphanet:53"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020249 {source="Orphanet:53", source="Orphanet:53/inferred"} ! hereditary optic neuropathy
is_a: MONDO:0020645 ! autosomal dominant osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833700
property_value: exactMatch DOID:0110938
property_value: exactMatch http://identifiers.org/omim/166600
property_value: exactMatch http://identifiers.org/snomedct/725050005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3179239
property_value: exactMatch Orphanet:53

[Term]
id: MONDO:0008157
name: Buschke-Ollendorff syndrome
def: "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." [Orphanet:1306]
subset: ordo_malformation_syndrome {source="Orphanet:1306"}
synonym: "Bos" RELATED [MONDO:Lexical, OMIM:166700]
synonym: "Buschke Ollendorff syndrome" RELATED [GARD:0001044]
synonym: "Buschke-Ollendorff syndrome" EXACT [MONDO:Lexical, OMIM:166700]
synonym: "Buschke-Ollendorff syndrome; Bos" RELATED [OMIM:166700]
synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" RELATED [OMIM:166700]
synonym: "dermatofibrosis lenticularis disseminata, isolated" RELATED [OMIM:166700]
synonym: "dermatofibrosis, disseminated with osteopoikilosis" RELATED [GARD:0001044]
synonym: "dermatofibrosis, disseminated, with osteopoikilosis" RELATED [OMIM:166700]
synonym: "Dermatoosteopoikilosis" RELATED [OMIM:166700]
synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [Orphanet:1306]
synonym: "osteopathia condensans disseminata" RELATED [OMIM:166700]
synonym: "osteopoikilosis with melorheostosis" RELATED [OMIM:166700]
synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700]
xref: GARD:0001044 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:1306/attributed", source="ORDO:1306/ntbt", source="Orphanet:1306"}
xref: MESH:C537415 {source="MONDO:equivalentTo", source="ORDO:1306/e", source="Orphanet:1306"}
xref: OMIM:166700 {source="MONDO:equivalentTo", source="ORDO:1306/e", source="Orphanet:1306"}
xref: Orphanet:1306 {source="MONDO:equivalentTo", source="OMIM:166700"}
is_a: MONDO:0017198 {source="Orphanet:1306"} ! osteopetrosis (disease)
is_a: MONDO:0019292 {source="Orphanet:1306", source="Orphanet:1306/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265514
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833699
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149695
property_value: exactMatch http://identifiers.org/mesh/C537415
property_value: exactMatch http://identifiers.org/omim/166700
property_value: exactMatch Orphanet:1306

[Term]
id: MONDO:0008158
name: dacryocystitis-osteopoikilosis syndrome
def: "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." [Orphanet:1562]
subset: ordo_malformation_syndrome {source="Orphanet:1562"}
synonym: "dacryocystitis osteopoikilosis" RELATED [GARD:0000351]
synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351]
synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562]
synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705]
xref: GARD:0000351 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536061 {source="ORDO:1562/e", source="Orphanet:1562", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166705 {source="ORDO:1562/e", source="Orphanet:1562", source="MONDO:equivalentTo"}
xref: Orphanet:1562 {source="OMIM:166705", source="MONDO:equivalentTo"}
xref: SCTID:721082002 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1833698 {source="ORDO:1562/e", source="MEDGEN:kboom-pr97-c99", source="OMIM:166705", source="Orphanet:1562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019703 {source="Orphanet:1562"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C536061
property_value: exactMatch http://identifiers.org/omim/166705
property_value: exactMatch http://identifiers.org/snomedct/721082002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833698
property_value: exactMatch Orphanet:1562

[Term]
id: MONDO:0008159
name: postmenopausal osteoporosis
def: "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." [MESH:D015663]
synonym: "bone mineral density quantitative trait locus" RELATED [OMIM:166710]
synonym: "osteoporosis, postmenopausal" RELATED [OMIM:166710]
xref: COHD:4010333 {source="MONDO:equivalentTo"}
xref: EFO:0003854 {source="MONDO:equivalentTo"}
xref: MESH:D015663 {source="EFO:0003854", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: SCTID:102447009 {source="EFO:0003854", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0029458 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:166710"}
is_a: MONDO:0005298 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH:D015663", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteoporosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029456
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029459
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674640
property_value: exactMatch http://identifiers.org/mesh/D015663
property_value: exactMatch http://identifiers.org/snomedct/102447009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029458

[Term]
id: MONDO:0008160
name: osteosclerosis with ichthyosis and fractures
synonym: "cortical thickening of long bones with bowing and ichthyosis" RELATED [OMIM:166740]
synonym: "osteosclerosis with ichthyosis and fractures" EXACT [OMIM:166740]
xref: MESH:C563483 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166740 {source="MONDO:equivalentTo"}
xref: UMLS:C1833697 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166740"}
is_a: MONDO:0003847 {source="MESH:C563483/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563483
property_value: exactMatch http://identifiers.org/omim/166740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833697

[Term]
id: MONDO:0008161
name: otodental syndrome
def: "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." [Orphanet:2791]
subset: ordo_malformation_syndrome {source="Orphanet:2791"}
synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750]
synonym: "globodontia" EXACT [Orphanet:2791]
synonym: "oculootodental syndrome" RELATED [OMIM:166750]
synonym: "otodental dysplasia" EXACT [Orphanet:2791]
synonym: "otodental syndrome" EXACT [OMIM:166750]
synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750]
xref: GARD:0004168 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K00.2 {source="ORDO:2791/attributed", source="ORDO:2791/ntbt", source="Orphanet:2791"}
xref: OMIM:166750 {source="MONDO:equivalentTo", source="Orphanet:2791", source="ORDO:2791/e"}
xref: Orphanet:2791 {source="MONDO:equivalentTo", source="OMIM:166750"}
xref: SCTID:707310009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1833693 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166750", source="Orphanet:2791"}
is_a: MONDO:0015336 {source="Orphanet:2791"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0016910 {source="Orphanet:2791"} ! partial deletion of the long arm of chromosome 11
property_value: exactMatch http://identifiers.org/omim/166750
property_value: exactMatch http://identifiers.org/snomedct/707310009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833693
property_value: exactMatch Orphanet:2791

[Term]
id: MONDO:0008162
name: otitis media, susceptibility to
subset: predisposition
synonym: "come/Rom" RELATED [OMIM:166760]
synonym: "OMS" RELATED [OMIM:166760]
synonym: "otitis Media, chronic/recurrent" RELATED [OMIM:166760]
synonym: "otitis media, susceptibility to" EXACT [OMIM:166760]
xref: OMIM:166760 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005441 ! otitis media (disease)
relationship: predisposes_towards MONDO:0005441 ! otitis media (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833692
property_value: exactMatch http://identifiers.org/omim/166760

[Term]
id: MONDO:0008163
name: otofaciocervical syndrome
def: "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." [Orphanet:2792]
subset: ordo_malformation_syndrome {source="Orphanet:2792"}
subset: prototype_pattern
synonym: "Fara-Chlupackova syndrome" EXACT [Orphanet:2792]
synonym: "OFC syndrome" EXACT [Orphanet:2792]
xref: DC:0000698 {source="MONDO:equivalentTo"}
xref: GARD:0004169 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2792", source="ORDO:2792/attributed", source="ORDO:2792/ntbt"}
xref: OMIMPS:166780 {source="MONDO:equivalentTo", source="DC:0000698"}
xref: Orphanet:2792 {source="OMIM:166780", source="MONDO:equivalentTo"}
xref: UMLS:C1833691 {source="Orphanet:2792", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015334 {source="Orphanet:2792"} ! branchial arch or oral-acral syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931416
property_value: exactMatch Orphanet:2792

[Term]
id: MONDO:0008164
name: OTSC1
synonym: "otosclerosis 1" RELATED [MONDO:Lexical, OMIM:166800]
synonym: "otosclerosis 1; OTSC1" RELATED [OMIM:166800]
synonym: "OTS" RELATED [OMIM:166800]
synonym: "OTSC1" EXACT [MONDO:Lexical, OMIM:166800]
xref: OMIM:166800 {source="MONDO:equivalentTo"}
xref: UMLS:CN032031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005349 {source="DC-OMIM:166800", source="OMIM:166800"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/omim/166800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032031

[Term]
id: MONDO:0008165
name: southeast Asian ovalocytosis
def: "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." [Orphanet:98868]
subset: ordo_disease {source="Orphanet:98868"}
synonym: "elliptocytosis 4" RELATED [OMIM:166900]
synonym: "elliptocytosis, stomatocytic hereditary" RELATED [OMIM:166900]
synonym: "he, stomatocytic" RELATED [OMIM:166900]
synonym: "hereditary ovalocytosis" EXACT [Orphanet:98868]
synonym: "Melanesian elliptocytosis" EXACT [Orphanet:98868]
synonym: "Melanesian ovalocytosis" EXACT [Orphanet:98868]
synonym: "ovalocytosis, hereditary hemolytic" RELATED [OMIM:166900]
synonym: "ovalocytosis, Malaysian-Melanesian-Filipino type" RELATED [OMIM:166900]
synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900]
synonym: "ovalocytosis, southeast Asian; sao" RELATED [OMIM:166900]
synonym: "sao" EXACT [Orphanet:98868]
synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868]
xref: ICD10:D58.1 {source="MONDO:subClassOf", source="ORDO:98868/attributed", source="ORDO:98868/ntbt", source="Orphanet:98868"}
xref: ICD9:282.1 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:166900 {source="ORDO:98868/e", source="MONDO:equivalentTo", source="Orphanet:98868"}
xref: Orphanet:98868 {source="MONDO:equivalentTo"}
xref: SCTID:191169008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:C1833690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166900"}
xref: UMLS:C1862323 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017319 ! hereditary elliptocytosis
is_a: MONDO:0020102 {source="Orphanet:98868"} ! hereditary stomatocytosis
property_value: exactMatch http://identifiers.org/omim/166900
property_value: exactMatch http://identifiers.org/snomedct/191169008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862323
property_value: exactMatch Orphanet:98868

[Term]
id: MONDO:0008166
name: ovalocytosis, hereditary hemolytic, with defective erythropoiesis
synonym: "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" EXACT [OMIM:166910]
xref: MESH:C563479 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166910 {source="MONDO:equivalentTo"}
xref: UMLS:C1833689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166910"}
is_a: MONDO:0003847 {source="MESH:C563479/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563479
property_value: exactMatch http://identifiers.org/omim/166910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833689

[Term]
id: MONDO:0008167
name: dermoid cyst of ovary
def: "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." [NCIT:C3856]
synonym: "dermoid cyst" EXACT EXCLUDE [DOID:5117]
synonym: "dermoid cyst (& [ovarian])" EXACT [DOID:5117]
synonym: "dermoid cyst of ovary" EXACT [DOID:5117, NCIT:C3856]
synonym: "dermoid cyst of the ovary" EXACT [NCIT:C3856]
synonym: "dermoid cyst, ovarian" RELATED [OMIM:166950]
synonym: "ovarian dermoid cyst" EXACT [DOID:5117, NCIT:C3856]
synonym: "ovary dermoid cyst" EXACT [MONDO:patterns/location]
synonym: "teratoma, ovarian" RELATED [OMIM:166950]
xref: DOID:5117 {source="MONDO:equivalentTo"}
xref: MESH:C562731 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: NCIT:C3856 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: OMIM:166950 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: UMLS:C0237020 {source="MEDGEN:kboom-pr97-c98", source="DOID:5117", source="MONDO:equivalentTo", source="OMIM:166950", source="NCIT:C3856"}
is_a: MONDO:0002378 {source="DOID:5117", source="MONDO:Redundant", source="MONDOLEX:0008167", source="NCIT:C3856"} ! dermoid cyst
is_a: MONDO:0003281 {source="MONDO:Redundant", source="NCIT:C3856"} ! ovarian cystic teratoma
property_value: closeMatch http://identifiers.org/snomedct/119424003
property_value: closeMatch http://identifiers.org/snomedct/154618004
property_value: closeMatch http://identifiers.org/snomedct/189116006
property_value: closeMatch http://identifiers.org/snomedct/269641006
property_value: exactMatch DOID:5117
property_value: exactMatch http://identifiers.org/mesh/C562731
property_value: exactMatch http://identifiers.org/omim/166950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0237020
property_value: exactMatch NCIT:C3856

[Term]
id: MONDO:0008168
name: ovarian fibroma (disease)
def: "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:P378]
subset: ordo_disease {source="Orphanet:314473"}
synonym: "fibroma of ovary" EXACT [NCIT:C3498]
synonym: "fibroma of the ovary" EXACT [NCIT:C3498]
synonym: "ovarian fibroma" EXACT [MONDO:ambiguous, NCIT:C3498]
synonym: "ovarian fibromata" RELATED [OMIM:166970]
xref: HP:0010618 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D27 {source="ORDO:314473/ntbt", source="Orphanet:314473"}
xref: MedDRA:10064257 {source="ORDO:314473/e", source="Orphanet:314473"}
xref: MESH:C562391 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3498 {source="MONDO:equivalentTo"}
xref: OMIM:166970 {source="MONDO:equivalentTo"}
xref: Orphanet:314473 {source="MONDO:equivalentTo"}
xref: SCTID:254865006 {source="MONDO:equivalentTo"}
xref: UMLS:C0149951 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3498", source="OMIM:166970", source="ORDO:314473/e", source="Orphanet:314473"}
is_a: MONDO:0000646 {source="Orphanet:314473"} ! ovarian benign neoplasm
is_a: MONDO:0005167 {source="MESH:C562391", source="NCIT:C3498", source="linkedlifedata"} ! fibroma
relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10064257
property_value: exactMatch http://identifiers.org/mesh/C562391
property_value: exactMatch http://identifiers.org/omim/166970
property_value: exactMatch http://identifiers.org/snomedct/254865006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149951
property_value: exactMatch NCIT:C3498
property_value: exactMatch Orphanet:314473

[Term]
id: MONDO:0008169
name: osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
synonym: "osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" RELATED [GARD:0002277]
synonym: "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" EXACT [OMIM:166990]
xref: GARD:0002277 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:166990 {source="MONDO:equivalentTo"}
xref: UMLS:C1833688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166990"}
is_a: MONDO:0003847 {source="MESH:C563478/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563478
property_value: exactMatch http://identifiers.org/omim/166990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833688

[Term]
id: MONDO:0008170
name: ovarian cancer
def: "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." [NCIT:C7431]
synonym: "cancer of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431]
synonym: "cancer of the ovary" EXACT [NCIT:C7431]
synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431]
synonym: "malignant neoplasm of the ovary" EXACT [NCIT:C7431]
synonym: "malignant ovarian neoplasm" EXACT [NCIT:C7431]
synonym: "malignant ovarian tumor" EXACT [DOID:2394, NCIT:C7431]
synonym: "malignant ovary neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of ovary" EXACT [NCIT:C7431]
synonym: "malignant tumor of the ovary" EXACT [NCIT:C7431]
synonym: "malignant tumour of ovary" EXACT [DOID:2394]
synonym: "ovarian cancer" EXACT [NCIT:C7431, OMIM:167000]
synonym: "ovarian cancer, epithelial" RELATED [OMIM:167000]
synonym: "ovarian cancer, NOS" RELATED EXCLUDE [NCIT:C7431]
synonym: "ovarian malignant tumor" EXACT [Orphanet:213500]
synonym: "ovarian neoplasm" BROAD [DOID:2394, MTH:NOCODE]
synonym: "ovary cancer" EXACT [MONDO:patterns/location]
synonym: "ovary neoplasm" BROAD [CSP2005:2016-1387, DOID:2394]
synonym: "primary ovarian cancer" RELATED [DOID:2394]
synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984]
xref: COHD:4181351 {source="MONDO:equivalentTo"}
xref: DOID:2394 {source="MONDO:equivalentTo"}
xref: GARD:0007295 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:C56 {source="DOID:2394"}
xref: ICD9:183.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2394"}
xref: MESH:D010051 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:2394"}
xref: NCIT:C7431 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: OMIM:167000 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: Orphanet:213500 {source="MONDO:equivalentTo"}
xref: SCTID:363443007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.39", source="DOID:2394"}
is_a: MONDO:0001416 {source="DOID:2394", source="MONDO:Redundant", source="NCIT:C7431", source="linkedlifedata/inferred"} ! female reproductive organ cancer
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C7431", source="linkedlifedata"} ! ovarian neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154528000
property_value: closeMatch http://identifiers.org/snomedct/372117006
property_value: closeMatch http://identifiers.org/snomedct/93934004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677886
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0919267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1140680
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1299247
property_value: exactMatch DOID:2394
property_value: exactMatch http://identifiers.org/mesh/D010051
property_value: exactMatch http://identifiers.org/omim/167000
property_value: exactMatch http://identifiers.org/snomedct/363443007
property_value: exactMatch NCIT:C7431
property_value: exactMatch Orphanet:213500

[Term]
id: MONDO:0008171
name: nephrolithiasis
def: "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378]
synonym: "calculus of kidney and ureter" EXACT [DOID:585]
synonym: "CAON" RELATED [OMIM:167030]
synonym: "kidney stone" EXACT [EFO:0003845, NCIT:C114667]
synonym: "kidney stones" EXACT [DOID:585, EFO:0003845]
synonym: "nephrolithiasis, calcium oxalate" EXACT [DOID:585, OMIM:167030]
synonym: "nephrolithiasis, calcium oxalate; CAON" RELATED [OMIM:167030]
synonym: "renal calculi" EXACT [NCIT:C114667]
synonym: "Stone - kidney/ureter" EXACT [DOID:585]
synonym: "urolithiasis, calcium oxalate" EXACT [DOID:585, OMIM:167030]
xref: COHD:201620 {source="MONDO:equivalentTo"}
xref: COHD:4148260 {source="MONDO:equivalentTo"}
xref: DOID:585 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: EFO:0003845 {source="MONDO:equivalentTo"}
xref: EFO:0004253 {source="MONDO:equivalentTo", source="DOID:585"}
xref: ICD10:N20 {source="DOID:585"}
xref: ICD10:N20.2 {source="DOID:585"}
xref: ICD9:592 {source="DOID:585"}
xref: MESH:D053040 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: NCIT:C114667 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: SCTID:266556005 {source="MONDO:kboom-pr-0.89/0.76/0.23", source="MONDO:equivalentTo", source="DOID:585"}
xref: UMLS:C0156257 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="DOID:585"}
xref: UMLS:C0392525 {source="MONDO:equivalentTo", source="NCIT:C114667", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0005240 {source="DOID:585", source="EFO:0004253", source="MESH:D053040", source="NCIT:C114667/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
is_a: MONDO:0024647 {source="https://github.com/monarch-initiative/mondo/issues/11"} ! urolithiasis
property_value: closeMatch http://identifiers.org/mesh/D007669
property_value: closeMatch http://identifiers.org/snomedct/155867005
property_value: closeMatch http://identifiers.org/snomedct/197792007
property_value: closeMatch http://identifiers.org/snomedct/197796005
property_value: closeMatch http://identifiers.org/snomedct/266622009
property_value: closeMatch http://identifiers.org/snomedct/95570007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665655
property_value: exactMatch DOID:585
property_value: exactMatch http://identifiers.org/mesh/D053040
property_value: exactMatch http://identifiers.org/snomedct/266556005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392525
property_value: exactMatch NCIT:C114667

[Term]
id: MONDO:0008172
name: PHOAD
synonym: "hypertrophic osteoarthropathy, primary, autosomal dominant" RELATED [MONDO:Lexical, OMIM:167100]
synonym: "hypertrophic osteoarthropathy, primary, autosomal dominant; PHOAD" RELATED [OMIM:167100]
synonym: "pachydermoperiostosis, autosomal dominant" RELATED [OMIM:167100]
synonym: "PDP, autosomal dominant" RELATED [OMIM:167100]
synonym: "Pho, autosomal dominant" RELATED [OMIM:167100]
synonym: "PHOAD" EXACT [MONDO:Lexical, OMIM:167100]
xref: OMIM:167100 {source="MONDO:equivalentTo"}
xref: UMLS:C2674695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167100"}
is_a: MONDO:0009799 {source="MONDOLEX:0008172", source="ORDO:2796/btnt"} ! pachydermoperiostosis
property_value: exactMatch http://identifiers.org/omim/167100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674695

[Term]
id: MONDO:0008173
name: pachyonychia congenita 1
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Jadassohn-Lewandowsky syndrome" RELATED [OMIM:167200]
synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [OMIM:167200]
synonym: "KRT16 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 1" EXACT [MONDO:Lexical, OMIM:167200]
synonym: "pachyonychia congenita 1; PC1" RELATED [OMIM:167200]
synonym: "pachyonychia congenita caused by mutation in KRT16" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1, OMIM:167200]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [OMIM:167200]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [OMIM:167200]
synonym: "PC1" RELATED [MONDO:Lexical, OMIM:167200]
xref: OMIM:167200 {source="MONDO:equivalentTo"}
xref: SCTID:39427000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
is_a: MONDO:0016471 {source="DC-OMIM:167200", source="MONDO:Redundant", source="OMIM:167200"} ! pachyonychia congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1706595
property_value: exactMatch http://identifiers.org/omim/167200
property_value: exactMatch http://identifiers.org/snomedct/39427000

[Term]
id: MONDO:0008174
name: pachyonychia congenita 2
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KRT17 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 2" EXACT [MONDO:Lexical, OMIM:167210]
synonym: "pachyonychia congenita 2; PC2" RELATED [OMIM:167210]
synonym: "pachyonychia congenita caused by mutation in KRT17" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1, OMIM:167210]
synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [OMIM:167210]
synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [OMIM:167210]
synonym: "PC2" RELATED [MONDO:Lexical, OMIM:167210]
xref: OMIM:167210 {source="MONDO:equivalentTo"}
is_a: MONDO:0016471 {source="DC-OMIM:167210", source="MONDO:Redundant", source="OMIM:167210"} ! pachyonychia congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1721007
property_value: exactMatch http://identifiers.org/omim/167210

[Term]
id: MONDO:0008175
name: pacman dysplasia
def: "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." [Orphanet:1952]
subset: gard_rare {source="GARD:0004189"}
subset: ordo_malformation_syndrome {source="Orphanet:1952"}
synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [Orphanet:1952]
synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:167220]
synonym: "pacman dysplasia" EXACT [OMIM:167220]
synonym: "Pacman syndrome" RELATED [GARD:0004189]
xref: GARD:0004189 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:1952/attributed", source="ORDO:1952/ntbt", source="Orphanet:1952"}
xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e", source="MONDO:ontobio"}
xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e"}
xref: Orphanet:1952 {source="OMIM:167220", source="MONDO:equivalentTo"}
xref: SCTID:722127006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833676 {source="OMIM:167220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e"}
is_a: MONDO:0019707 {source="Orphanet:1952"} ! primary osteolysis
property_value: exactMatch http://identifiers.org/mesh/C538095
property_value: exactMatch http://identifiers.org/omim/167220
property_value: exactMatch http://identifiers.org/snomedct/722127006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833676
property_value: exactMatch Orphanet:1952
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia xsd:anyURI {source="GARD:0004189"}

[Term]
id: MONDO:0008176
name: Paget disease of bone 3
synonym: "familial Paget disease of bone" RELATED [GARD:0004191]
synonym: "Paget disease of bone 3" EXACT [MONDO:Lexical, OMIM:167250]
synonym: "Paget disease of bone 3; PDB3" RELATED [OMIM:167250]
synonym: "Paget disease of bone type 3" EXACT [MONDORULE:1, OMIM:167250]
synonym: "Paget disease of bone, familial" RELATED [GARD:0004191]
synonym: "PDB3" RELATED [MONDO:Lexical, OMIM:167250]
xref: GARD:0004191 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:167250 {source="MONDO:equivalentTo"}
xref: UMLS:C4085252 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005382 {source="DC-OMIM:167250", source="OMIM:167250"} ! bone Paget disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1418399
property_value: closeMatch Orphanet:280110
property_value: exactMatch http://identifiers.org/omim/167250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085252

[Term]
id: MONDO:0008177
name: extramammary Paget disease
def: "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." [NCIT:C3302]
subset: ordo_disease {source="Orphanet:2800"}
synonym: "cutaneous Paget's disease" EXACT [NCIT:C3302]
synonym: "EMPD" RELATED [GARD:0004192]
synonym: "extramammary Paget disease" EXACT [MONDO:0006204, NCIT:C3302]
synonym: "Extramammary Paget's disease" EXACT [NCIT:C3302]
synonym: "Paget disease Extramammary" EXACT [NCIT:C3302]
synonym: "Paget disease, EXTRAMAMMARY" RELATED [OMIM:167300]
synonym: "Paget's disease of skin" EXACT [NCIT:C3302]
synonym: "Paget's disease of the skin" EXACT [NCIT:C3302]
synonym: "Paget's skin disease" EXACT [NCIT:C3302]
xref: EFO:1000249 {source="MONDO:equivalentTo"}
xref: GARD:0004192 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C44.5 {source="ORDO:2800/ntbt", source="Orphanet:2800"}
xref: ICDO:8542/3 {source="NCIT:C3302"}
xref: MedDRA:10033366 {source="ORDO:2800/e", source="Orphanet:2800"}
xref: MedDRA:10068223 {source="ORDO:2800/e", source="Orphanet:2800"}
xref: MESH:D010145 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"}
xref: NCIT:C3302 {source="MONDO:equivalentTo", source="EFO:1000249", source="kboom:pr0.85-conf12.42"}
xref: OMIM:167300 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"}
xref: ONCOTREE:EMPD {source="MONDO:equivalentTo"}
xref: Orphanet:2800 {source="MONDO:equivalentTo", source="OMIM:167300"}
xref: UMLS:C0030186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2800/e", source="OMIM:167300", source="Orphanet:2800", source="NCIT:C3302"}
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C3302"} ! Paget disease
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:2800"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/meddra/10033366
property_value: exactMatch http://identifiers.org/meddra/10068223
property_value: exactMatch http://identifiers.org/mesh/D010145
property_value: exactMatch http://identifiers.org/omim/167300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030186
property_value: exactMatch NCIT:C3302
property_value: exactMatch Orphanet:2800

[Term]
id: MONDO:0008178
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
def: "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." [NCIT:C122663]
synonym: "IBMPFD1" RELATED [MONDO:Lexical, OMIM:167320]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" RELATED [MONDO:Lexical, OMIM:167320]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; IBMPFD1" RELATED [OMIM:167320]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" EXACT [MONDORULE:1, OMIM:167320]
synonym: "lower motor neuron degeneration with Paget-like bone disease" RELATED [OMIM:167320]
synonym: "multisystem proteinopathy 1" RELATED [OMIM:167320]
synonym: "muscular dystrophy, limb-girdle, with Paget disease of bone" RELATED [OMIM:167320]
synonym: "pagetoid amyotrophic lateral sclerosis" RELATED [OMIM:167320]
xref: MESH:C563476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122663 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.96"}
xref: OMIM:167320 {source="MONDO:equivalentTo"}
is_a: MONDO:0000507 {source="MONDO:cjm", source="MONDOLEX:0008178", source="Orphanet:52430"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
property_value: exactMatch http://identifiers.org/mesh/C563476
property_value: exactMatch http://identifiers.org/omim/167320
property_value: exactMatch NCIT:C122663

[Term]
id: MONDO:0008179
name: paroxysmal extreme pain disorder
def: "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." [Orphanet:46348]
subset: gard_rare {source="GARD:0012854"}
subset: ordo_disease {source="Orphanet:46348"}
synonym: "familial rectal pain" EXACT [Orphanet:46348]
synonym: "familial rectal syndrome" RELATED [GARD:0012854]
synonym: "pain, submandibular, ocular, and rectal, with flushing" RELATED [OMIM:167400]
synonym: "paroxysmal extreme pain disorder" EXACT [OMIM:167400]
synonym: "PEPD" RELATED [GARD:0012854]
synonym: "Pexpd" RELATED [OMIM:167400]
synonym: "rectal pain, familial" RELATED [OMIM:167400]
synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854]
xref: GARD:0012854 {source="MONDO:equivalentTo"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563475 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125385 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:167400 {source="Orphanet:46348", source="MONDO:equivalentTo", source="ORDO:46348/e"}
xref: Orphanet:46348 {source="MONDO:equivalentTo", source="OMIM:167400"}
xref: SCTID:699190008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833661 {source="Orphanet:46348", source="NCBI:mim2gene_medline", source="NCIT:C125385", source="MONDO:equivalentTo", source="OMIM:167400"}
is_a: MONDO:0019117 {source="Orphanet:46348"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563475
property_value: exactMatch http://identifiers.org/omim/167400
property_value: exactMatch http://identifiers.org/snomedct/699190008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833661
property_value: exactMatch NCIT:C125385
property_value: exactMatch Orphanet:46348
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder xsd:anyURI {source="GARD:0012854"}

[Term]
id: MONDO:0008180
name: congenital velopharyngeal incompetence
def: "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." [MESH:D014681]
subset: ordo_malformation_syndrome {source="Orphanet:2291"}
synonym: "palatopharyngeal incompetence" RELATED [OMIM:167500]
synonym: "velopharyngeal incompetence" RELATED [OMIM:167500]
synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500]
xref: GARD:0005470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:J39.2 {source="ORDO:2291/attributed", source="ORDO:2291/ntbt", source="Orphanet:2291"}
xref: MESH:D014681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:167500 {source="MONDO:equivalentTo", source="ORDO:2291/e", source="Orphanet:2291"}
xref: Orphanet:2291 {source="MONDO:equivalentTo", source="OMIM:167500"}
xref: UMLS:C0042454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167500"}
is_a: MONDO:0015504 {source="Orphanet:2291"} ! larynx anomaly
is_a: MONDO:0018562 {source="Orphanet:2291", source="Orphanet:2291/inferred"} ! genetic otorhinolaryngological malformation
property_value: exactMatch http://identifiers.org/mesh/D014681
property_value: exactMatch http://identifiers.org/omim/167500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997202
property_value: exactMatch Orphanet:2291

[Term]
id: MONDO:0008181
name: palmaris longus muscle, absence of
synonym: "palmaris longus muscle, absence of" EXACT [OMIM:167600]
xref: OMIM:167600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868661
property_value: exactMatch http://identifiers.org/omim/167600

[Term]
id: MONDO:0008182
name: nasopalpebral lipoma-coloboma syndrome
def: "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." [Orphanet:2399]
subset: gard_rare {source="GARD:0003927"}
subset: ordo_malformation_syndrome {source="Orphanet:2399"}
synonym: "Nasopalpebral lipoma coloboma syndrome" RELATED [GARD:0003927]
synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730]
synonym: "NASOPALPEBRAL lipoma-coloboma syndrome; NPLCS" RELATED [OMIM:167730]
synonym: "NPLCS" RELATED [OMIM:167730]
synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927]
synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730]
xref: GARD:0003927 {source="MONDO:equivalentTo"}
xref: ICD10:Q10.3 {source="Orphanet:2399", source="ORDO:2399/attributed", source="ORDO:2399/ntbt"}
xref: MESH:C538338 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:167730 {source="Orphanet:2399", source="ORDO:2399/e", source="MONDO:equivalentTo"}
xref: Orphanet:2399 {source="MONDO:equivalentTo", source="OMIM:167730"}
xref: SCTID:723411003 {source="MONDO:equivalentTo"}
xref: UMLS:C1868660 {source="Orphanet:2399", source="ORDO:2399/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167730"}
is_a: MONDO:0015218 {source="Orphanet:2399"} ! syndromic developmental defect of the eye
is_a: MONDO:0020157 {source="Orphanet:2399"} ! syndromic palpebral coloboma
is_a: MONDO:0043008 {source="Orphanet:2399"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538338
property_value: exactMatch http://identifiers.org/omim/167730
property_value: exactMatch http://identifiers.org/snomedct/723411003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868660
property_value: exactMatch Orphanet:2399
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome xsd:anyURI {source="GARD:0003927"}

[Term]
id: MONDO:0008183
name: annular pancreas
def: "Annular pancreas is a distinct form of duodenal atresia (see this term) in which the head of the pancreas forms a ring around the second portion of the duodenum." [Orphanet:675]
subset: gard_rare {source="GARD:0000705"}
subset: ordo_morphological_anomaly {source="Orphanet:675"}
synonym: "pancreas, annular" RELATED [OMIM:167750]
xref: DOID:0060850 {source="MONDO:equivalentTo"}
xref: GARD:0000705 {source="MONDO:equivalentTo"}
xref: ICD10:Q45.1 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="ORDO:675/attributed", source="ORDO:675/ntbt"}
xref: MedDRA:10071757 {source="Orphanet:675", source="ORDO:675/e"}
xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:675/e"}
xref: NCIT:C98813 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="ORDO:675/e"}
xref: Orphanet:675 {source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750"}
xref: SCTID:40315008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0149955 {source="NCIT:C98813", source="Orphanet:675", source="DOID:0060850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167750", source="ORDO:675/e"}
is_a: MONDO:0015213 {source="Orphanet:675"} ! non-syndromic visceral malformation
property_value: exactMatch DOID:0060850
property_value: exactMatch http://identifiers.org/meddra/10071757
property_value: exactMatch http://identifiers.org/mesh/C536376
property_value: exactMatch http://identifiers.org/omim/167750
property_value: exactMatch http://identifiers.org/snomedct/40315008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149955
property_value: exactMatch NCIT:C98813
property_value: exactMatch Orphanet:675
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/705/annular-pancreas xsd:anyURI {source="GARD:0000705"}

[Term]
id: MONDO:0008184
name: pancreas, dorsal, agenesis of
synonym: "agenesis of the dorsal pancreas" RELATED [GARD:0004203]
synonym: "complete agenesis of the dorsal pancreas" RELATED [GARD:0004203]
synonym: "congenital short pancreas" RELATED [GARD:0004203]
synonym: "pancreas agenesis, dorsal" RELATED [GARD:0004203]
synonym: "pancreas, dorsal, agenesis of" EXACT [OMIM:167755]
synonym: "partial agenesis of the dorsal pancreas" RELATED [GARD:0004203]
xref: GARD:0004203 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538109 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:167755 {source="MONDO:equivalentTo"}
xref: UMLS:C1868659 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167755"}
is_a: MONDO:0009832 {source="ORDO:2805/btnt"} ! pancreatic agenesis
property_value: exactMatch http://identifiers.org/mesh/C538109
property_value: exactMatch http://identifiers.org/omim/167755
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868659

[Term]
id: MONDO:0008185
name: hereditary chronic pancreatitis
def: "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." [Orphanet:676]
subset: gard_rare
subset: ordo_disease {source="Orphanet:676"}
subset: predisposition
synonym: "autosomal dominant hereditary pancreatitis" RELATED [MESH:C537262]
synonym: "familial pancreatitis" RELATED [MESH:C537262]
synonym: "hereditary chronic pancreatitis" EXACT [GARD:0006632, MESH:C537262, MONDO:patterns/hereditary]
synonym: "hereditary pancreatitis" EXACT [NCIT:C95436]
synonym: "Hp" RELATED [MESH:C537262, OMIM:167800]
synonym: "HPC" RELATED [MESH:C537262, OMIM:167800]
synonym: "pancreatitis, calcific" RELATED [OMIM:167800]
synonym: "pancreatitis, calcific, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic" RELATED [OMIM:167800]
synonym: "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic, protection against" RELATED [OMIM:167800]
synonym: "pancreatitis, chronic, protection against, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800]
synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800]
synonym: "pancreatitis, hereditary; PCTT" RELATED [OMIM:167800]
synonym: "PCTT" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800]
xref: GARD:0006632 {source="MONDO:equivalentTo"}
xref: ICD10:K86.1 {source="Orphanet:676", source="ORDO:676/attributed", source="ORDO:676/ntbt"}
xref: ICD9:577.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537262 {source="MONDO:equivalentTo"}
xref: NCIT:C95436 {source="MONDO:equivalentTo"}
xref: OMIM:167800 {source="Orphanet:676", source="GARD:0006632", source="MONDO:equivalentTo", source="ORDO:676/e"}
xref: Orphanet:676 {source="GARD:0006632", source="MONDO:equivalentTo", source="OMIM:167800"}
xref: SCTID:68072000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005003 {source="MESH:C537262", source="MONDO:Redundant", source="MONDOLEX:0008185"} ! chronic pancreatitis
is_a: MONDO:0015888 {source="Orphanet:676"} ! other rare diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
intersection_of: MONDO:0005003 ! chronic pancreatitis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238339
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832108
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868653
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969419
property_value: exactMatch http://identifiers.org/mesh/C537262
property_value: exactMatch http://identifiers.org/omim/167800
property_value: exactMatch http://identifiers.org/snomedct/68072000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341474
property_value: exactMatch NCIT:C95436
property_value: exactMatch Orphanet:676
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis xsd:anyURI {source="GARD:0006632"}

[Term]
id: MONDO:0008186
name: pancytopenia and occlusive vascular disease
synonym: "pancytopenia and occlusive vascular disease" EXACT [OMIM:167850]
xref: MESH:C566836 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:167850 {source="MONDO:equivalentTo"}
xref: UMLS:C1868652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566836
property_value: exactMatch http://identifiers.org/omim/167850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868652

[Term]
id: MONDO:0008187
name: panic disorder 1
synonym: "PAND1" EXACT [MONDO:Lexical, OMIM:167870]
synonym: "panic disorder" RELATED [OMIM:167870]
synonym: "panic disorder 1" RELATED [MONDO:Lexical, OMIM:167870]
synonym: "panic disorder 1; PAND1" RELATED [OMIM:167870]
synonym: "panic disorder susceptibility locus, chromosome 13Q-related" RELATED [OMIM:167870]
synonym: "panic disorder with bladder conditions" RELATED [OMIM:167870]
synonym: "panic disorder with Joint laxity" RELATED [OMIM:167870]
xref: OMIM:167870 {source="MONDO:equivalentTo"}
is_a: MONDO:0005383 {source="DC-OMIM:167870", source="MONDOLEX:0008187"} ! panic disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868649
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868650
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868651
property_value: exactMatch http://identifiers.org/omim/167870

[Term]
id: MONDO:0008188
name: papillomatosis, confluent and reticulated
synonym: "carp" RELATED [MONDO:Lexical, OMIM:167900]
synonym: "papillomatosis, confluent and reticulated" EXACT [MONDO:Lexical, OMIM:167900]
synonym: "papillomatosis, confluent and reticulated; carp" RELATED [OMIM:167900]
synonym: "papillomatosis, familial cutaneous" RELATED [OMIM:167900]
synonym: "papillomatosis, reticulated and confluent, of Gougerot and Carteaud" RELATED [OMIM:167900]
xref: MESH:C566832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:167900 {source="MONDO:equivalentTo"}
xref: UMLS:C0263385 {source="MONDO:equivalentTo", source="OMIM:167900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868648
property_value: exactMatch http://identifiers.org/mesh/C566832
property_value: exactMatch http://identifiers.org/omim/167900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263385

[Term]
id: MONDO:0008189
name: papillomatosis, florid, of nipple
def: "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." [NCIT:P378]
subset: gard_rare {source="GARD:0010174"}
synonym: "erosive adenomatosis of nipple" EXACT [NCIT:C4383]
synonym: "erosive adenomatosis of the nipple" RELATED [GARD:0010174]
synonym: "erosive nipple adenomatosis" EXACT [NCIT:C4383]
synonym: "florid papillomatosis" RELATED [GARD:0010174]
synonym: "florid papillomatosis of the nipple" RELATED [GARD:0010174]
synonym: "papillomatosis florid of nipple" RELATED [GARD:0010174]
synonym: "papillomatosis, florid, of nipple" EXACT [OMIM:167950]
xref: GARD:0010174 {source="MONDO:equivalentTo"}
xref: MESH:C537167 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4383 {source="MONDO:equivalentTo"}
xref: OMIM:167950 {source="MONDO:equivalentTo"}
xref: SCTID:237467005 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:C1868647 {source="NCIT:C4383", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167950"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537167
property_value: exactMatch http://identifiers.org/omim/167950
property_value: exactMatch http://identifiers.org/snomedct/237467005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868647
property_value: exactMatch NCIT:C4383
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple xsd:anyURI {source="GARD:0010174"}

[Term]
id: MONDO:0008190
name: obsolete human papillomavirus type 18 integration site 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415708
is_obsolete: true
consider: http://identifiers.org/hgnc/5166 {source="mim2gene_medgen"}

[Term]
id: MONDO:0008191
name: obsolete human papillomavirus type 18 integration site 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415709
is_obsolete: true
consider: http://identifiers.org/hgnc/5167 {source="mim2gene_medgen"}

[Term]
id: MONDO:0008192
name: paragangliomas 1
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "carotid body tumors" RELATED [OMIM:168000]
synonym: "chemodectomas" RELATED [OMIM:168000]
synonym: "glomus jugulare tumors" RELATED [OMIM:168000]
synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000]
synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern]
synonym: "paraganglioma, carotid body" RELATED [OMIM:168000]
synonym: "paragangliomas 1" EXACT [MONDO:Lexical, OMIM:168000]
synonym: "paragangliomas 1; PGL1" RELATED [OMIM:168000]
synonym: "paragangliomas type 1" EXACT [MONDORULE:1, OMIM:168000]
synonym: "paragangliomas with sensorineural hearing loss" RELATED [OMIM:168000]
synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [OMIM:168000]
synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000]
synonym: "Paragangliomata" RELATED [OMIM:168000]
synonym: "PGL1" RELATED [MONDO:Lexical, OMIM:168000]
synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0007324 {source="MONDO:equivalentTo"}
xref: OMIM:168000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="DC-OMIM:168000", source="MONDO:Redundant", source="OMIM:168000"} ! paraganglioma
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030422
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868633
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3494181
property_value: exactMatch http://identifiers.org/omim/168000

[Term]
id: MONDO:0008193
name: paralysis agitans, juvenile, of Hunt
subset: gard_rare {source="GARD:0010359"}
synonym: "paralysis agitans, juvenile, of Hunt" EXACT [OMIM:168100]
synonym: "Parkinson disease, juvenile, of Hunt" RELATED [OMIM:168100]
xref: GARD:0010359 {source="MONDO:equivalentTo"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168100 {source="MONDO:equivalentTo"}
xref: SCTID:43647007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0009830 {source="ORDO:171695/btnt"} ! parkinsonian-pyramidal syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238344
property_value: exactMatch http://identifiers.org/mesh/C562469
property_value: exactMatch http://identifiers.org/omim/168100
property_value: exactMatch http://identifiers.org/snomedct/43647007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt xsd:anyURI {source="GARD:0010359"}

[Term]
id: MONDO:0008194
name: Paramolar tubercle of bolk
synonym: "bolk cusp" RELATED [OMIM:168200]
synonym: "Paramolar tubercle of bolk" EXACT [OMIM:168200]
xref: OMIM:168200 {source="MONDO:equivalentTo"}
xref: SCTID:78305006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266029
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868632
property_value: exactMatch http://identifiers.org/omim/168200
property_value: exactMatch http://identifiers.org/snomedct/78305006

[Term]
id: MONDO:0008195
name: paramyotonia congenita of Von Eulenburg
def: "Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." [Orphanet:684]
subset: ordo_disease {source="Orphanet:684"}
synonym: "Eulenburg disease" RELATED [GARD:0007325]
synonym: "myotonia congenita intermittens" RELATED [GARD:0007325]
synonym: "paralysis periodica Paramyotonica" RELATED [OMIM:168300]
synonym: "paramyotonia congenita" EXACT [Orphanet:684]
synonym: "paramyotonia congenita of Von Eulenburg" EXACT [MONDO:Lexical, OMIM:168300]
synonym: "paramyotonia congenita of VON Eulenburg; PMC" RELATED [OMIM:168300]
synonym: "paramyotonia congenita without cold paralysis" RELATED [OMIM:168300]
synonym: "PMC" RELATED [MONDO:Lexical, OMIM:168300]
synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325]
xref: GARD:0007325 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.1 {source="ORDO:684/ntbt", source="ORDO:684/inclusion", source="Orphanet:684"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C122790 {source="MONDO:kboom-pr-0.92/0.74/1.18", source="MONDO:equivalentTo"}
xref: OMIM:168300 {source="MONDO:equivalentTo", source="ORDO:684/e", source="Orphanet:684"}
xref: Orphanet:684 {source="MONDO:equivalentTo", source="OMIM:168300"}
xref: SCTID:41574007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016120 {source="Orphanet:684"} ! myotonic syndrome
is_a: MONDO:0019119 {source="Orphanet:684"} ! muscular channelopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868619
property_value: exactMatch http://identifiers.org/mesh/C538616
property_value: exactMatch http://identifiers.org/omim/168300
property_value: exactMatch http://identifiers.org/snomedct/41574007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868617
property_value: exactMatch NCIT:C122790
property_value: exactMatch Orphanet:684

[Term]
id: MONDO:0008196
name: parastremmatic dwarfism
def: "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." [Orphanet:2646]
subset: gard_rare {source="GARD:0004222"}
subset: ordo_malformation_syndrome {source="Orphanet:2646"}
synonym: "parastremmatic dwarfism" EXACT [OMIM:168400]
synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222]
xref: GARD:0004222 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:2646/attributed", source="ORDO:2646/ntbt", source="Orphanet:2646"}
xref: MESH:C537172 {source="MONDO:equivalentTo", source="ORDO:2646/e", source="Orphanet:2646", source="MONDO:ontobio"}
xref: OMIM:168400 {source="MONDO:equivalentTo", source="ORDO:2646/e", source="Orphanet:2646"}
xref: Orphanet:2646 {source="MONDO:equivalentTo", source="OMIM:168400"}
xref: SCTID:722210007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018240 {source="Orphanet:2646"} ! TRPV4-related bone disorder
is_a: MONDO:0019698 {source="Orphanet:2646"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537172
property_value: exactMatch http://identifiers.org/omim/168400
property_value: exactMatch http://identifiers.org/snomedct/722210007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868616
property_value: exactMatch Orphanet:2646
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism xsd:anyURI {source="GARD:0004222"}

[Term]
id: MONDO:0008197
name: parietal foramina 1
def: "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "catlin Marks" RELATED [OMIM:168500]
synonym: "cranium bifidum occultum" RELATED [OMIM:168500]
synonym: "cranium bifidum, hereditary" RELATED [OMIM:168500]
synonym: "foramina parietalia permagna" RELATED [OMIM:168500]
synonym: "MSX2 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "parietal foramina" RELATED [MONDO:Lexical, OMIM:168500]
synonym: "parietal foramina 1" EXACT [OMIM:168500]
synonym: "parietal foramina 1; PFM1" RELATED [OMIM:168500]
synonym: "parietal foramina caused by mutation in MSX2" EXACT [MONDO:design_pattern]
synonym: "parietal foramina, symmetric" RELATED [OMIM:168500]
synonym: "parietal foramina; PFM" RELATED [OMIM:168500]
synonym: "PFM" RELATED [MONDO:Lexical, OMIM:168500]
synonym: "PFM1" RELATED [OMIM:168500]
xref: OMIM:168500 {source="MONDO:equivalentTo"}
is_a: MONDO:0018953 {source="DC-OMIM:168500", source="MONDO:Redundant", source="OMIM:168500"} ! parietal foramina
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868598
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868599
property_value: exactMatch http://identifiers.org/omim/168500

[Term]
id: MONDO:0008198
name: parietal foramina with cleidocranial dysplasia
def: "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." [Orphanet:251290]
subset: ordo_malformation_syndrome {source="Orphanet:251290"}
synonym: "cleidocranial dysplasia with parietal foramina" RELATED [OMIM:168550]
synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290]
synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290]
synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550]
synonym: "parietal foramina with cleidocranial dysplasia; PFMCCD" RELATED [OMIM:168550]
synonym: "PFMCCD" RELATED [MONDO:Lexical, OMIM:168550]
xref: ICD10:Q74.0 {source="Orphanet:251290", source="ORDO:251290/attributed", source="ORDO:251290/ntbt"}
xref: MESH:C566825 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168550 {source="MONDO:equivalentTo", source="Orphanet:251290", source="ORDO:251290/e"}
xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"}
xref: UMLS:C1868597 {source="NCBI:mim2gene_medline", source="OMIM:168550", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:251290"}
is_a: MONDO:0019709 {source="Orphanet:251290"} ! cleidocranial dysplasia and isolated cranial ossification defect
is_a: MONDO:0020018 {source="Orphanet:251290"} ! cranial malformation
property_value: exactMatch http://identifiers.org/mesh/C566825
property_value: exactMatch http://identifiers.org/omim/168550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868597
property_value: exactMatch Orphanet:251290

[Term]
id: MONDO:0008199
name: late-onset Parkinson disease
synonym: "park" RELATED [OMIM:168600]
synonym: "Parkinson disease, late-onset" RELATED [MONDO:Lexical, OMIM:168600]
synonym: "Parkinson disease, late-onset; PD" RELATED [OMIM:168600]
synonym: "PD" RELATED [MONDO:Lexical, OMIM:168600]
xref: OMIM:168600 {source="MONDO:equivalentTo"}
xref: UMLS:C3160718 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168600"}
is_a: MONDO:0005180 {source="DC-OMIM:168600", source="OMIM:168600"} ! Parkinson disease
property_value: exactMatch http://identifiers.org/omim/168600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160718

[Term]
id: MONDO:0008200
name: autosomal dominant Parkinson disease 1
comment: Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation
synonym: "atypical Parkinson disease" RELATED [OMIM:168601]
synonym: "autosomal dominant Parkinson disease type 1" EXACT [DOID:0060367, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 1" RELATED [DOID:0060367]
synonym: "PARK1" RELATED [MONDO:Lexical, OMIM:168601]
synonym: "Parkinson disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:168601]
synonym: "Parkinson disease 1, autosomal dominant Lewy body" RELATED [OMIM:168601]
synonym: "Parkinson disease 1, autosomal dominant; PARK1" RELATED [OMIM:168601]
xref: DOID:0060367 {source="MONDO:equivalentTo"}
xref: MESH:C566823 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168601 {source="DOID:0060367", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="DOID:0060367", source="Orphanet:411602"} ! hereditary late onset Parkinson disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868595
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868596
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149705
property_value: exactMatch DOID:0060367
property_value: exactMatch http://identifiers.org/mesh/C566823
property_value: exactMatch http://identifiers.org/omim/168601

[Term]
id: MONDO:0008201
name: Perry syndrome
def: "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." [Orphanet:178509]
subset: gard_rare {source="GARD:0010453"}
subset: ordo_disease {source="Orphanet:178509"}
synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [OMIM:168605, Orphanet:178509]
synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486]
synonym: "Perry syndrome" EXACT [OMIM:168605]
xref: DOID:0060486 {source="MONDO:equivalentTo"}
xref: GARD:0010453 {source="MONDO:equivalentTo"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168605 {source="DOID:0060486", source="MONDO:equivalentTo", source="ORDO:178509/e", source="Orphanet:178509"}
xref: Orphanet:178509 {source="DOID:0060486", source="MONDO:equivalentTo", source="OMIM:168605"}
xref: SCTID:699184009 {source="MONDO:kboom-pr-1.00/0.81/10.83", source="MONDO:equivalentTo"}
xref: UMLS:C1868594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168605", source="Orphanet:178509"}
is_a: MONDO:0002254 {source="DOID:0060486", source="MONDOLEX:0008201"} ! syndromic disease
is_a: MONDO:0017661 {source="Orphanet:178509"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
property_value: exactMatch DOID:0060486
property_value: exactMatch http://identifiers.org/mesh/C566822
property_value: exactMatch http://identifiers.org/omim/168605
property_value: exactMatch http://identifiers.org/snomedct/699184009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868594
property_value: exactMatch Orphanet:178509
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome xsd:anyURI {source="GARD:0010453"}

[Term]
id: MONDO:0008202
name: Parotidomegaly, hereditary bilateral
synonym: "Parotidomegaly, hereditary bilateral" EXACT [OMIM:168800]
xref: MESH:C566821 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168800 {source="MONDO:equivalentTo"}
xref: UMLS:C1868590 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168800"}
is_a: MONDO:0003847 {source="MESH:C566821"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566821
property_value: exactMatch http://identifiers.org/omim/168800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868590

[Term]
id: MONDO:0008203
name: Passovoy factor defect
synonym: "Passovoy factor defect" EXACT [OMIM:168830]
xref: OMIM:168830 {source="MONDO:equivalentTo"}
xref: UMLS:C3149707 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168830"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/168830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3149707

[Term]
id: MONDO:0008204
name: obsolete patella aplasia, coxa vara, and tarsal synostosis
synonym: "patella aplasia, coxa vara, and tarsal synostosis" RELATED [OMIM:168850]
xref: MESH:C536307 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: OMIM:168850 {source="MONDO:equivalentTo"}
property_value: closeMatch Orphanet:3112
property_value: exactMatch http://identifiers.org/mesh/C536307
property_value: exactMatch http://identifiers.org/omim/168850
is_obsolete: true
consider: MONDO:0007841

[Term]
id: MONDO:0008205
name: patella aplasia/hypoplasia
def: "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." [Orphanet:86789]
subset: ordo_morphological_anomaly {source="Orphanet:86789"}
synonym: "absent patella" RELATED [GARD:0008709]
synonym: "familial absence of the patella" RELATED [GARD:0008709]
synonym: "familial aplasia of the patella (subtype)" RELATED [GARD:0008709]
synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860]
synonym: "patella aplasia-hypoplasia; PTLAH" RELATED [OMIM:168860]
synonym: "PTLAH" EXACT [MONDO:Lexical, OMIM:168860, Orphanet:86789]
xref: GARD:0008709 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.1 {source="Orphanet:86789", source="ORDO:86789/ntbt", source="ORDO:86789/inclusion"}
xref: MESH:C535568 {source="ORDO:86789/e", source="MONDO:equivalentTo", source="Orphanet:86789", source="MONDO:ontobio"}
xref: OMIM:168860 {source="ORDO:86789/e", source="MONDO:equivalentTo", source="Orphanet:86789"}
xref: Orphanet:86789 {source="MONDO:equivalentTo", source="OMIM:168860"}
is_a: MONDO:0015227 {source="Orphanet:86789"} ! non-syndromic limb malformation
is_a: MONDO:0019712 {source="Orphanet:86789"} ! patellar dysostosis
property_value: exactMatch http://identifiers.org/mesh/C535568
property_value: exactMatch http://identifiers.org/omim/168860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868577
property_value: exactMatch Orphanet:86789

[Term]
id: MONDO:0008206
name: benign paroxysmal tonic upgaze of childhood with ataxia
def: "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." [Orphanet:1179]
subset: ordo_disease {source="Orphanet:1179"}
synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176]
synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179]
synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885]
xref: GARD:0004176 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G96.8 {source="Orphanet:1179", source="ORDO:1179/attributed", source="ORDO:1179/ntbt"}
xref: MESH:C566817 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:168885 {source="ORDO:1179/e", source="Orphanet:1179", source="MONDO:equivalentTo"}
xref: Orphanet:1179 {source="MONDO:equivalentTo", source="OMIM:168885"}
xref: SCTID:763127004 {source="MONDO:equivalentTo"}
xref: UMLS:C1868576 {source="NCBI:mim2gene_medline", source="Orphanet:1179", source="MONDO:equivalentTo", source="OMIM:168885", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017657 {source="Orphanet:1179"} ! rare paroxysmal movement disorder
property_value: exactMatch http://identifiers.org/mesh/C566817
property_value: exactMatch http://identifiers.org/omim/168885
property_value: exactMatch http://identifiers.org/snomedct/763127004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868576
property_value: exactMatch Orphanet:1179

[Term]
id: MONDO:0008207
name: chondromalacia patellae
def: "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." [Orphanet:1428]
subset: ordo_disease {source="Orphanet:1428"}
synonym: "chondromalacia of patella" EXACT [DOID:13357, ICD9CM_2006:717.7]
synonym: "chondromalacia patellae" EXACT [DOID:13357]
synonym: "familial chondromalacia patellae" RELATED [Orphanet:1428]
synonym: "patella chondromalacia" EXACT [MONDO:patterns/location]
synonym: "patella, chondromalacia OF" RELATED [OMIM:168900]
synonym: "softening of articular cartilage of patella" EXACT [DOID:13357, MTHICD9_2006:717.7]
xref: COHD:81378 {source="MONDO:equivalentTo"}
xref: DOID:13357 {source="MONDO:equivalentTo"}
xref: ICD10:M22.4 {source="ORDO:1428/attributed", source="ORDO:1428/ntbt", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"}
xref: ICD9:717.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:13357"}
xref: MESH:D046789 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13357"}
xref: OMIM:168900 {source="MONDO:equivalentTo", source="Orphanet:1428", source="ORDO:1428/e", source="DOID:13357"}
xref: Orphanet:1428 {source="MONDO:equivalentTo", source="OMIM:168900"}
xref: SCTID:36071006 {source="MONDO:equivalentTo", source="DOID:13357", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0008475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168900", source="DOID:13357"}
is_a: MONDO:0002342 {source="DOID:13357", source="MONDO:Redundant", source="linkedlifedata"} ! chondromalacia
is_a: MONDO:0019712 {source="Orphanet:1428"} ! patellar dysostosis
is_a: MONDO:0044967 ! limb disorder
property_value: closeMatch http://identifiers.org/snomedct/156521009
property_value: exactMatch DOID:13357
property_value: exactMatch http://identifiers.org/mesh/D046789
property_value: exactMatch http://identifiers.org/omim/168900
property_value: exactMatch http://identifiers.org/snomedct/36071006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008475
property_value: exactMatch Orphanet:1428

[Term]
id: MONDO:0008208
name: patella, familial recurrent dislocation of
synonym: "patella, familial recurrent dislocation of" EXACT [OMIM:169000]
xref: MESH:C566816 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169000 {source="MONDO:equivalentTo"}
xref: UMLS:C1868575 {source="OMIM:169000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566816
property_value: exactMatch http://identifiers.org/omim/169000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868575

[Term]
id: MONDO:0008209
name: Char syndrome
def: "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." [Orphanet:46627]
subset: gard_rare {source="GARD:0001237"}
subset: ordo_malformation_syndrome {source="Orphanet:46627"}
synonym: "Char" RELATED [OMIM:169100]
synonym: "Char syndrome" EXACT [OMIM:169100]
synonym: "CHAR syndrome; CHAR" RELATED [OMIM:169100]
synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [OMIM:169100]
synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627]
xref: DOID:0060563 {source="MONDO:equivalentTo"}
xref: GARD:0001237 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:46627", source="ORDO:46627/attributed", source="ORDO:46627/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566815 {source="DOID:0060563", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169100 {source="DOID:0060563", source="ORDO:46627/e", source="Orphanet:46627", source="MONDO:equivalentTo"}
xref: Orphanet:46627 {source="OMIM:169100", source="MONDO:equivalentTo"}
xref: SCTID:703534001 {source="MONDO:kboom-pr-1.00/0.79/7.45", source="MONDO:equivalentTo"}
xref: UMLS:C1868570 {source="ORDO:46627/e", source="Orphanet:46627", source="NCBI:mim2gene_medline", source="OMIM:169100", source="MONDO:equivalentTo"}
is_a: MONDO:0011827 {source="DOID:0060563", source="MESH:C566815"} ! patent ductus arteriosus
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0020169 {source="Orphanet:46627"} ! rare disorder with ptosis
is_a: MONDO:0043007 {source="Orphanet:46627"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:0060563
property_value: exactMatch http://identifiers.org/mesh/C538076
property_value: exactMatch http://identifiers.org/mesh/C566815
property_value: exactMatch http://identifiers.org/omim/169100
property_value: exactMatch http://identifiers.org/snomedct/703534001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868570
property_value: exactMatch Orphanet:46627
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1237/char-syndrome xsd:anyURI {source="GARD:0001237"}

[Term]
id: MONDO:0008210
name: patterned macular dystrophy 1
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [OMIM:169150]
synonym: "butterfly-shaped pigment dystrophy of the fovea" RELATED [GARD:0009821]
synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [DOID:0060866]
synonym: "macular dystrophy, butterfly-Shaped pigmentary" RELATED [OMIM:169150]
synonym: "macular dystrophy, butterfly-shaped pigmentary" EXACT [] {source="OMIM:169150"}
synonym: "macular dystrophy, patterned, 1" RELATED [MONDO:Lexical, OMIM:169150]
synonym: "macular dystrophy, patterned, 1; MDPT1" RELATED [OMIM:169150]
synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1, OMIM:169150]
synonym: "MDPT1" EXACT [DOID:0060866, MONDO:Lexical, OMIM:169150]
synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [OMIM:169150]
synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1]
synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060866 {source="MONDO:equivalentTo"}
xref: GARD:0009821 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:169150 {source="MONDO:equivalentTo", source="DOID:0060866"}
is_a: MONDO:0020381 {source="DOID:0060866", source="MONDO:Redundant", source="OMIM:169150"} ! patterned macular dystrophy
property_value: exactMatch DOID:0060866
property_value: exactMatch http://identifiers.org/omim/169150

[Term]
id: MONDO:0008211
name: pseudoleprechaunism syndrome, Patterson type
def: "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." [Orphanet:2976]
subset: ordo_malformation_syndrome {source="Orphanet:2976"}
synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170]
synonym: "Patterson syndrome" EXACT [Orphanet:2976]
synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259]
xref: GARD:0004259 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E34.8 {source="ORDO:2976/attributed", source="ORDO:2976/ntbt", source="Orphanet:2976"}
xref: MESH:C536310 {source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976", source="MONDO:ontobio"}
xref: OMIM:169170 {source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976"}
xref: Orphanet:2976 {source="MONDO:equivalentTo", source="OMIM:169170"}
xref: UMLS:C1868546 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976", source="OMIM:169170"}
is_a: MONDO:0017820 {source="Orphanet:2976"} ! disease with Cushing syndrome as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536310
property_value: exactMatch http://identifiers.org/omim/169170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868546
property_value: exactMatch Orphanet:2976

[Term]
id: MONDO:0008212
name: Pechet factor deficiency
synonym: "Dynia factor deficiency" RELATED [OMIM:169200]
synonym: "Pechet factor deficiency" EXACT [OMIM:169200]
xref: MESH:C566814 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169200 {source="MONDO:equivalentTo"}
xref: UMLS:C1868545 {source="OMIM:169200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566814/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566814
property_value: exactMatch http://identifiers.org/omim/169200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868545

[Term]
id: MONDO:0008213
name: pectus excavatum (disease)
def: "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." [MESH:D005660]
synonym: "funnel chest" RELATED [OMIM:169300]
synonym: "pectus excavatum" EXACT [MONDO:ambiguous, OMIM:169300]
xref: COHD:141955 {source="MONDO:equivalentTo"}
xref: HP:0000767 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:754.81 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005660 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169300 {source="MONDO:equivalentTo"}
xref: SCTID:391987005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016842
property_value: exactMatch http://identifiers.org/mesh/D005660
property_value: exactMatch http://identifiers.org/omim/169300
property_value: exactMatch http://identifiers.org/snomedct/391987005

[Term]
id: MONDO:0008214
name: Pelger-Huet anomaly
def: "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." [NCIT:P378]
synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" RELATED [GARD:0009148]
synonym: "Pelger Huet anomaly" RELATED [GARD:0009148]
synonym: "Pelger-Huet anomaly" EXACT [MONDO:Lexical, OMIM:169400]
synonym: "Pelger-Huet anomaly; PHA" RELATED [OMIM:169400]
synonym: "Pelger-Huet nuclear anomaly" RELATED [GARD:0009148]
synonym: "PHA" RELATED [MONDO:Lexical, OMIM:169400]
xref: DOID:9631 {source="MONDO:equivalentTo", source="EFO:1001093"}
xref: EFO:1001093 {source="MONDO:equivalentTo"}
xref: GARD:0009148 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MedDRA:10029377 {source="EFO:1001093"}
xref: MESH:D010381 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001093", source="DOID:9631"}
xref: NCIT:C85002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001093", source="DOID:9631"}
xref: OMIM:169400 {source="MONDO:equivalentTo", source="DOID:9631"}
xref: SCTID:85559002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15", source="DOID:9631"}
xref: UMLS:C0030779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:169400", source="NCIT:C85002", source="DOID:9631"}
is_a: MONDO:0000426 {source="DOID:9631", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: closeMatch http://identifiers.org/meddra/10029377
property_value: closeMatch http://identifiers.org/snomedct/191356000
property_value: exactMatch DOID:9631
property_value: exactMatch http://identifiers.org/mesh/D010381
property_value: exactMatch http://identifiers.org/omim/169400
property_value: exactMatch http://identifiers.org/snomedct/85559002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030779
property_value: exactMatch NCIT:C85002

[Term]
id: MONDO:0008215
name: adult-onset autosomal dominant demyelinating leukodystrophy
def: "adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." [Orphanet:99027]
subset: ordo_disease {source="Orphanet:99027"}
synonym: "ADLD" EXACT [DOID:0060785, MONDO:Lexical, OMIM:169500, Orphanet:99027]
synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT [Orphanet:99027]
synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [DOID:0060785]
synonym: "autosomal dominant adult-onset demyelinating leukodystrophy" RELATED [GARD:0010587]
synonym: "autosomal dominant leukodystrophy with autonomic disease" RELATED [GARD:0010587]
synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [DOID:0060785]
synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant" RELATED [MONDO:Lexical, OMIM:169500]
synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant; ADLD" RELATED [OMIM:169500]
synonym: "multiple sclerosis-like disorder" RELATED [GARD:0010587]
synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" RELATED [OMIM:169500]
synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500]
xref: DOID:0060785 {source="MONDO:equivalentTo"}
xref: GARD:0010587 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:99027", source="DOID:0060785", source="ORDO:99027/attributed", source="ORDO:99027/ntbt"}
xref: MESH:C566813 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="ORDO:99027/e"}
xref: Orphanet:99027 {source="DOID:0060785", source="MONDO:equivalentTo", source="OMIM:169500"}
xref: SCTID:448054001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016956 {source="Orphanet:99027"} ! partial trisomy of the long arm of chromosome 5
is_a: MONDO:0019046 {source="DOID:0060785", source="Orphanet:99027", source="https://rarediseases.org/rare-diseases/leukodystrophy/", source="linkedlifedata"} ! leukodystrophy
is_a: MONDO:0020261 {source="Orphanet:99027"} ! neurological disease with abnormal eye movements
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868512
property_value: exactMatch DOID:0060785
property_value: exactMatch http://identifiers.org/mesh/C566813
property_value: exactMatch http://identifiers.org/omim/169500
property_value: exactMatch http://identifiers.org/snomedct/448054001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164344
property_value: exactMatch Orphanet:99027

[Term]
id: MONDO:0008216
name: pelvic lipomatosis with crossed renal ectopia
synonym: "pelvic lipomatosis with crossed renal ectopia" EXACT [OMIM:169545]
xref: MESH:C566812 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169545 {source="MONDO:equivalentTo"}
xref: UMLS:C1868511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:169545"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566812
property_value: exactMatch http://identifiers.org/omim/169545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868511

[Term]
id: MONDO:0008217
name: pelvis-shoulder dysplasia
def: "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." [Orphanet:2839]
subset: ordo_malformation_syndrome {source="Orphanet:2839"}
synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839]
synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550]
synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839]
xref: ICD10:Q87.5 {source="ORDO:2839/attributed", source="ORDO:2839/ntbt", source="Orphanet:2839"}
xref: MESH:C566811 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:169550 {source="MONDO:equivalentTo", source="ORDO:2839/e", source="Orphanet:2839"}
xref: Orphanet:2839 {source="OMIM:169550", source="MONDO:equivalentTo"}
xref: SCTID:719298001 {source="MONDO:kboom-pr-1.00/0.81/11.85", source="MONDO:equivalentTo"}
xref: UMLS:C1868508 {source="OMIM:169550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2839"}
is_a: MONDO:0017432 {source="Orphanet:2839"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2839", source="Orphanet:2839/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C566811
property_value: exactMatch http://identifiers.org/omim/169550
property_value: exactMatch http://identifiers.org/snomedct/719298001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868508
property_value: exactMatch Orphanet:2839

[Term]
id: MONDO:0008218
name: Hailey-Hailey disease
def: "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." [Orphanet:2841]
subset: gard_rare {source="GARD:0006559"}
subset: ordo_disease {source="Orphanet:2841"}
synonym: "BCPM" RELATED [MONDO:Lexical, OMIM:169600]
synonym: "benign chronic familial pemphigus of Hailey-Hailey" EXACT [Orphanet:2841]
synonym: "benign chronic pemphigus" EXACT [DOID:0050429, MONDO:Lexical, OMIM:169600]
synonym: "benign chronic pemphigus; BCPM" RELATED [OMIM:169600]
synonym: "benign familial pemphigus" RELATED [GARD:0006559]
synonym: "familial benign chronic pemphigus" RELATED [Orphanet:2841]
synonym: "familial benign pemphigus" RELATED [GARD:0006559]
synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841]
synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600]
xref: DOID:0050429 {source="MONDO:equivalentTo"}
xref: GARD:0006559 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2841", source="ORDO:2841/ntbt", source="DOID:0050429", source="ORDO:2841/inclusion"}
xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429", source="MONDO:ontobio"}
xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:169600 {source="Orphanet:2841", source="ORDO:2841/e", source="MONDO:equivalentTo", source="DOID:0050429"}
xref: Orphanet:2841 {source="MONDO:equivalentTo", source="OMIM:169600"}
xref: SCTID:79468000 {source="MONDO:equivalentTo", source="DOID:0050429", source="MONDO:kboom-pr-1.00/0.80/9.66"}
xref: UMLS:C0085106 {source="NCIT:C82865", source="Orphanet:2841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:169600", source="DOID:0050429"}
is_a: MONDO:0006594 {source="DOID:0050429", source="NCIT:C82865", source="linkedlifedata"} ! pemphigus
is_a: MONDO:0019274 {source="Orphanet:2841"} ! other epidermal disorder
property_value: exactMatch DOID:0050429
property_value: exactMatch http://identifiers.org/mesh/D016506
property_value: exactMatch http://identifiers.org/omim/169600
property_value: exactMatch http://identifiers.org/snomedct/79468000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085106
property_value: exactMatch NCIT:C82865
property_value: exactMatch Orphanet:2841
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease xsd:anyURI {source="GARD:0006559"}

[Term]
id: MONDO:0008219
name: pemphigus vulgaris
def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)." [Orphanet:704]
comment: Editor note: check familial vs acquired
subset: gard_rare
subset: ordo_disease {source="Orphanet:704"}
synonym: "familial pemphigus vulgaris" EXACT [DOID:0060851]
synonym: "pemphigus vulgaris, familial" RELATED [OMIM:169610]
xref: DOID:0060851 {source="MONDO:equivalentTo"}
xref: EFO:0004719 {source="MONDO:equivalentTo"}
xref: GARD:0004270 {source="MONDO:equivalentTo"}
xref: GARD:0007355 {source="shared-xref", source="MONDO:equivalentTo"}
xref: ICD10:L10.0 {source="DOID:0060851", source="ORDO:704/e", source="MONDO:equivalentTo", source="Orphanet:704"}
xref: MedDRA:10052802 {source="ORDO:704/e", source="Orphanet:704"}
xref: NCIT:C34910 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="EFO:0004719"}
xref: OMIM:169610 {source="DOID:0060851", source="MONDO:equivalentTo", source="ORDO:704/btnt", source="Orphanet:704", source="GARD:0004270"}
xref: Orphanet:704 {source="DOID:0060851", source="MONDO:equivalentTo", source="GARD:0004270", source="OMIM:169610"}
xref: SCTID:49420001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0004719"}
xref: UMLS:C0030809 {source="DOID:0060851", source="ORDO:704/e", source="MONDO:equivalentTo", source="Orphanet:704", source="NCIT:C34910"}
is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10:L10.0", source="NCIT:C34910", source="linkedlifedata", source="linkedlifedata/inferred"} ! pemphigus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868502
property_value: exactMatch DOID:0060851
property_value: exactMatch http://identifiers.org/meddra/10052802
property_value: exactMatch http://identifiers.org/omim/169610
property_value: exactMatch http://identifiers.org/snomedct/49420001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030809
property_value: exactMatch NCIT:C34910
property_value: exactMatch Orphanet:704

[Term]
id: MONDO:0008220
name: pepsinogen 3, group 1
synonym: "pepsinogen 3, group I" RELATED [MONDO:Lexical, OMIM:169710]
synonym: "pepsinogen 3, group I; PGA3" RELATED [OMIM:169710]
synonym: "pepsinogen 3, Group type 1" EXACT [MONDORULE:1, OMIM:169710]
synonym: "pepsinogen I--second locus" RELATED [OMIM:169710]
synonym: "PGA3" RELATED [MONDO:Lexical, OMIM:169710]
xref: OMIM:169710 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1418498
property_value: exactMatch http://identifiers.org/omim/169710

[Term]
id: MONDO:0008221
name: prolidase deficiency
def: "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." [Orphanet:742]
subset: ordo_disease {source="Orphanet:742"}
synonym: "hyperimidodipeptiduria" EXACT [Orphanet:742]
synonym: "Imidodipeptidase deficiency" RELATED [GARD:0007473]
synonym: "Peptidase deficiency" RELATED [GARD:0007473]
synonym: "prolidase deficiency" EXACT [OMIM:170100]
xref: GARD:0007473 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:742", source="ORDO:742/attributed", source="ORDO:742/ntbt"}
xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:742/e"}
xref: NCIT:C85029 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:170100 {source="Orphanet:742", source="MONDO:equivalentTo", source="ORDO:742/e"}
xref: Orphanet:742 {source="MONDO:equivalentTo", source="OMIM:170100"}
xref: SCTID:410055005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268532 {source="Orphanet:742", source="NCIT:C85029", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170100", source="ORDO:742/e"}
is_a: MONDO:0000508 {source="Orphanet:742"} ! syndromic intellectual disability
is_a: MONDO:0019058 {source="Orphanet:742"} ! neurometabolic disease
is_a: MONDO:0019232 {source="Orphanet:742"} ! inborn disorder of peptide metabolism
is_a: MONDO:0019301 {source="Orphanet:742"} ! metabolic disease with skin involvement
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:742"} ! syndromic lymphedema
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/mesh/D056732
property_value: exactMatch http://identifiers.org/omim/170100
property_value: exactMatch http://identifiers.org/snomedct/410055005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1534653
property_value: exactMatch NCIT:C85029
property_value: exactMatch Orphanet:742

[Term]
id: MONDO:0008222
name: Andersen-Tawil syndrome
def: "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." [Orphanet:37553]
subset: ordo_disease {source="Orphanet:37553"}
synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, Orphanet:37553]
synonym: "Andersen syndrome" EXACT [DOID:0050434, OMIM:170390, Orphanet:37553]
synonym: "Andersen-Tawil syndrome" EXACT [OMIM:170390, Orphanet:37553]
synonym: "ATS" BROAD [DOID:0050434]
synonym: "cardiodysrhythmic potassium-sensitive periodic paralysis" RELATED [Orphanet:37553]
synonym: "long QT syndrome 7" EXACT [DOID:0050434, OMIM:170390]
synonym: "long QT syndrome type 7" EXACT [Orphanet:37553]
synonym: "LQT7" EXACT [DOID:0050434, Orphanet:37553]
synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATED [OMIM:170390]
synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434]
synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453]
xref: DOID:0050434 {source="MONDO:equivalentTo"}
xref: GARD:0009453 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G72.3 {source="ORDO:37553/attributed", source="ORDO:37553/ntbt", source="Orphanet:37553"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D050030 {source="DOID:0050434", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84559 {source="DOID:0050434", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.01"}
xref: OMIM:170390 {source="DOID:0050434", source="MONDO:equivalentTo", source="ORDO:37553/e", source="Orphanet:37553"}
xref: Orphanet:37553 {source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390"}
xref: SCTID:422348008 {source="DOID:0050434", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.07"}
xref: UMLS:C1563715 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C84559", source="DOID:0050434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170390", source="Orphanet:37553"}
is_a: MONDO:0000995 ! familial periodic paralysis
is_a: MONDO:0019119 {source="Orphanet:37553"} ! muscular channelopathy
is_a: MONDO:0019171 ! familial long QT syndrome
property_value: exactMatch DOID:0050434
property_value: exactMatch http://identifiers.org/mesh/D050030
property_value: exactMatch http://identifiers.org/omim/170390
property_value: exactMatch http://identifiers.org/snomedct/422348008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563715
property_value: exactMatch NCIT:C84559
property_value: exactMatch Orphanet:37553

[Term]
id: MONDO:0008223
name: hypokalemic periodic paralysis
def: "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." [Orphanet:681]
subset: gard_rare {source="GARD:0006729"}
subset: ordo_disease {source="Orphanet:681"}
synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452]
synonym: "familial periodic paralysis" EXACT EXCLUDE [DOID:14452]
synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [DOID:14452]
synonym: "HKPP" EXACT [MONDO:cjm]
synonym: "HOKPP" EXACT [GARD:0006729]
synonym: "hypokalemic familial periodic paralysis" EXACT [DOID:14452, MTHICD9_2006:359.3]
synonym: "hypokalemic periodic paralysis" EXACT [OMIM:170400]
synonym: "HypoPP" EXACT [GARD:0006729]
synonym: "periodic hypokalemic paralysis" EXACT [CSP2005:1849-3266, DOID:14452]
synonym: "periodic paralysis I" NARROW [DOID:14452]
synonym: "Westphall disease" EXACT [Orphanet:681]
xref: DOID:14452 {source="MONDO:equivalentTo"}
xref: GARD:0006729 {source="MONDO:equivalentTo"}
xref: ICD10:G72.3 {source="ORDO:681/ntbt", source="DOID:14452", source="Orphanet:681", source="ORDO:681/inclusion"}
xref: MESH:D020514 {source="MONDO:equivalentTo", source="DOID:14452", source="ORDO:681/e", source="Orphanet:681", source="MONDO:ontobio"}
xref: NCIT:C84775 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14452"}
xref: Orphanet:681 {source="MONDO:equivalentTo"}
xref: SCTID:82732003 {source="MONDO:equivalentTo", source="DOID:14452", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: UMLS:C0238358 {source="MONDO:equivalentTo", source="DOID:14452", source="ORDO:681/e", source="Orphanet:681", source="NCIT:C84775"}
is_a: MONDO:0000995 {source="DOID:14452", source="MESH:D020514", source="MONDOLEX:0008223", source="Orphanet:681", source="linkedlifedata"} ! familial periodic paralysis
is_a: MONDO:0003019 ! potassium deficiency disease
disjoint_from: MONDO:0008224 ! hyperkalemic periodic paralysis
property_value: closeMatch http://identifiers.org/snomedct/193241004
property_value: closeMatch http://identifiers.org/snomedct/240093008
property_value: exactMatch DOID:14452
property_value: exactMatch http://identifiers.org/mesh/D020514
property_value: exactMatch http://identifiers.org/snomedct/82732003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238358
property_value: exactMatch NCIT:C84775
property_value: exactMatch Orphanet:681
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis xsd:anyURI {source="GARD:0006729"}

[Term]
id: MONDO:0008224
name: hyperkalemic periodic paralysis
def: "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." [Orphanet:682]
subset: gard_rare
subset: ordo_disease {source="Orphanet:682"}
synonym: "adynamia episodica hereditaria" EXACT [Orphanet:682]
synonym: "adynamia episodica hereditaria with or without myotonia" EXACT [GARD:0000195, OMIM:170500]
synonym: "familial hyperkalemic periodic paralysis" EXACT [Orphanet:682]
synonym: "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" EXACT [DOID:14451]
synonym: "familial hyperPP" EXACT [Orphanet:682]
synonym: "Gamstorp disease" EXACT [Orphanet:682]
synonym: "Gamstorp episodic adynamy" EXACT [GARD:0000195, Orphanet:682]
synonym: "hyperkalemic periodic paralysis" EXACT [MONDO:Lexical, OMIM:170500]
synonym: "hyperkalemic periodic paralysis; HYPP" EXACT [OMIM:170500]
synonym: "hyperkalemic PP" EXACT [Orphanet:682]
synonym: "hyperKPP" EXACT [Orphanet:682]
synonym: "hyperPP" EXACT [Orphanet:682]
synonym: "HYPP" EXACT [GARD:0000195, MONDO:Lexical, OMIM:170500, Orphanet:682]
synonym: "normokalemic periodic paralysis, potassium-sensitive" EXACT [OMIM:170500]
synonym: "primary hyperkalemic periodic paralysis" EXACT [Orphanet:682]
synonym: "primary hyperPP" EXACT [Orphanet:682]
synonym: "sodium channel muscle disease" RELATED [GARD:0000195]
xref: DOID:14451 {source="MONDO:equivalentTo"}
xref: GARD:0000195 {source="MONDO:equivalentTo"}
xref: ICD10:G72.3 {source="ORDO:682/inclusion", source="ORDO:682/ntbt", source="DOID:14451", source="Orphanet:682"}
xref: MESH:D020513 {source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682"}
xref: NCIT:C123429 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14451"}
xref: OMIM:170500 {source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682", source="GARD:0000195"}
xref: Orphanet:682 {source="OMIM:170500", source="MONDO:equivalentTo", source="GARD:0000195"}
xref: SCTID:304737009 {source="MONDO:equivalentTo", source="DOID:14451", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: UMLS:C0238357 {source="NCIT:C123429", source="OMIM:170500", source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682"}
xref: UMLS:CN074266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000995 ! familial periodic paralysis
property_value: closeMatch http://identifiers.org/snomedct/15973007
property_value: closeMatch http://identifiers.org/snomedct/278513006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868433
property_value: exactMatch DOID:14451
property_value: exactMatch http://identifiers.org/mesh/C535409
property_value: exactMatch http://identifiers.org/mesh/D020513
property_value: exactMatch http://identifiers.org/omim/170500
property_value: exactMatch http://identifiers.org/snomedct/304737009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074266
property_value: exactMatch NCIT:C123429
property_value: exactMatch Orphanet:682

[Term]
id: MONDO:0008225
name: normokalemic periodic paralysis
comment: Editor note: NCIT says SNC4A, check this
synonym: "normokalemic periodic paralysis" EXACT [OMIM:170600]
synonym: "normokalemic PP" EXACT [GARD:0004009]
synonym: "NormoKPP" EXACT [NCIT:C122791]
synonym: "periodic paralysis type 3" RELATED [GARD:0004009]
synonym: "potassium-sensitive normokalemic periodic paralysis" RELATED [GARD:0004009]
xref: GARD:0004009 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C122791 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:170600 {source="MONDO:equivalentTo"}
xref: Orphanet:680 {source="OMIM:170600", source="MONDO:obsoleteEquivalent"}
xref: SCTID:40381009 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo"}
xref: UMLS:C0268445 {source="OMIM:170600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122791"}
is_a: MONDO:0000995 {source="MONDO:cjm"} ! familial periodic paralysis
property_value: exactMatch http://identifiers.org/omim/170600
property_value: exactMatch http://identifiers.org/snomedct/40381009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268445
property_value: exactMatch NCIT:C122791
property_value: exactMatch Orphanet:680

[Term]
id: MONDO:0008226
name: aggressive periodontitis
def: "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." [EFO:0006342]
synonym: "juvenile periodontitis" EXACT [CSP2005:0828-4592, DOID:1474]
synonym: "periodontitis, aggressive, 1" RELATED [OMIM:170650]
synonym: "periodontitis, aggressive, type 1" EXACT [MONDORULE:1, OMIM:170650]
synonym: "periodontitis, juvenile" RELATED [OMIM:170650]
synonym: "periodontitis, prepubertal" RELATED [OMIM:170650]
xref: DOID:1474 {source="MONDO:equivalentTo", source="EFO:0006342"}
xref: EFO:0006342 {source="MONDO:equivalentTo"}
xref: ICD10:K05.2 {source="DOID:1474"}
xref: ICD9:523.5 {source="EFO:0006342"}
xref: MESH:D010520 {source="DOID:1474", source="MONDO:equivalentTo", source="EFO:0006342"}
xref: OMIM:170650 {source="DOID:1474", source="MONDO:equivalentTo"}
xref: UMLS:C0031106 {source="DOID:1474", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170650"}
is_a: MONDO:0005593 ! chronic periodontitis
is_a: MONDO:0019183 ! inherited odontologic disease
property_value: closeMatch http://identifiers.org/snomedct/2624008
property_value: closeMatch http://identifiers.org/snomedct/449908004
property_value: closeMatch http://identifiers.org/snomedct/49965002
property_value: exactMatch DOID:1474
property_value: exactMatch http://identifiers.org/mesh/D010520
property_value: exactMatch http://identifiers.org/omim/170650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031106

[Term]
id: MONDO:0008227
name: peripheral dysostosis
subset: gard_rare {source="GARD:0002015"}
subset: ordo_malformation_syndrome {source="Orphanet:1795"}
synonym: "dysostosis peripheral" RELATED [GARD:0002015]
synonym: "peripheral dysostosis" EXACT [OMIM:170700]
xref: GARD:0002015 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:1795", source="ORDO:1795/attributed", source="ORDO:1795/ntbt"}
xref: OMIM:170700 {source="ORDO:1795/e", source="Orphanet:1795", source="MONDO:equivalentTo"}
xref: Orphanet:1795 {source="OMIM:170700", source="MONDO:equivalentTo"}
xref: UMLS:CN074256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019695 {source="Orphanet:1795"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/omim/170700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074256
property_value: exactMatch Orphanet:1795
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral xsd:anyURI {source="GARD:0002015"}

[Term]
id: MONDO:0008228
name: pernicious anemia
def: "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." [NCIT:P378]
synonym: "Addison anaemia" EXACT []
synonym: "Addison's anaemia" EXACT [DOID:13381]
synonym: "anemia pernicious" EXACT [DOID:13381, MTH:NOCODE]
synonym: "Biermer's anemia" EXACT [DOID:13381, MTHICD9_2006:281.0]
synonym: "intrinsic factor deficiency" EXACT [NCIT:C2871]
synonym: "pernicious anemia" EXACT [OMIM:170900]
xref: COHD:432295 {source="MONDO:equivalentTo"}
xref: DOID:13381 {source="EFO:0005576", source="MONDO:equivalentTo"}
xref: EFO:0005576 {source="MONDO:equivalentTo"}
xref: GARD:0012671 {source="MONDO:equivalentTo"}
xref: ICD10:D51.0 {source="DOID:13381"}
xref: ICD9:281.0 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000752 {source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2871 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21"}
xref: OMIM:170900 {source="DOID:13381", source="MONDO:equivalentTo"}
xref: SCTID:84027009 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.15"}
xref: UMLS:C0002892 {source="DOID:13381", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170900", source="NCIT:C2871"}
is_a: MONDO:0001700 {source="NCIT:C2871", source="linkedlifedata", source="linkedlifedata/inferred"} ! megaloblastic anemia (disease)
is_a: MONDO:0003847 {source="MONDO:Redundant", source="indirect"} ! Mendelian disease
is_a: MONDO:0006873 {source="DOID:13381", source="MESH:D000752/inferred", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/snomedct/154789008
property_value: closeMatch http://identifiers.org/snomedct/191139001
property_value: closeMatch Orphanet:120
property_value: exactMatch DOID:13381
property_value: exactMatch http://identifiers.org/mesh/D000752
property_value: exactMatch http://identifiers.org/omim/170900
property_value: exactMatch http://identifiers.org/snomedct/84027009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002892
property_value: exactMatch NCIT:C2871

[Term]
id: MONDO:0008229
name: peroneal nerve, accessory deep
subset: gard_rare {source="GARD:0008546"}
synonym: "accessory deep peroneal nerve" RELATED [GARD:0008546]
synonym: "peroneal nerve, accessory deep" EXACT [OMIM:170980]
xref: GARD:0008546 {source="MONDO:equivalentTo"}
xref: MESH:C536001 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:170980 {source="MONDO:equivalentTo"}
xref: UMLS:C1868426 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170980"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536001
property_value: exactMatch http://identifiers.org/omim/170980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve xsd:anyURI {source="GARD:0008546"}

[Term]
id: MONDO:0008230
name: peroxidase, salivary
synonym: "peroxidase, salivary" EXACT [MONDO:Lexical, OMIM:170990]
synonym: "peroxidase, salivary; SAPX" RELATED [OMIM:170990]
synonym: "SAPX" RELATED [MONDO:Lexical, OMIM:170990]
xref: OMIM:170990 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868425
property_value: exactMatch http://identifiers.org/omim/170990

[Term]
id: MONDO:0008231
name: Peyronie disease
def: "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." [MESH:D010411]
synonym: "Induratio penis plastica" EXACT [DOID:8616, MTHICD9_2006:607.81]
synonym: "Peyronie disease" EXACT [DOID:8616, MTH:NOCODE, OMIM:171000]
synonym: "Peyronie's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Peyronie's fibromatosis" EXACT [DOID:8616, NCIT:C3316]
xref: COHD:196157 {source="MONDO:equivalentTo"}
xref: DOID:8616 {source="MONDO:equivalentTo"}
xref: ICD10:N48.6 {source="DOID:8616"}
xref: ICD9:607.85 {source="DOID:8616"}
xref: OMIM:171000 {source="MONDO:equivalentTo", source="DOID:8616"}
xref: UMLS:C0030848 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:8616", source="OMIM:171000"}
is_a: MONDO:0002036 {source="DOID:8616"} ! penile disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/mesh/D010411
property_value: closeMatch http://identifiers.org/snomedct/1335005
property_value: closeMatch http://identifiers.org/snomedct/155931002
property_value: closeMatch http://identifiers.org/snomedct/198028006
property_value: exactMatch DOID:8616
property_value: exactMatch http://identifiers.org/omim/171000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030848

[Term]
id: MONDO:0008232
name: phagocytosis, plasma-related defect 1N
synonym: "phagocytosis, plasma-RELATED defect IN" RELATED [OMIM:171100]
synonym: "phagocytosis, plasma-related defect type 1N" EXACT [MONDORULE:4, OMIM:171100]
xref: MESH:C566808 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:171100 {source="MONDO:equivalentTo"}
xref: UMLS:C1868402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:171100"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0024627 ! phagocytic cell dysfunction
property_value: exactMatch http://identifiers.org/mesh/C566808
property_value: exactMatch http://identifiers.org/omim/171100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868402

[Term]
id: MONDO:0008233
name: phaeochromocytoma
synonym: "pheochromocytoma" RELATED [OMIM:171300]
synonym: "pheochromocytoma, susceptibility to" RELATED [OMIM:171300]
xref: DOID:0050771 {source="MONDO:equivalentTo"}
xref: OMIM:171300 {source="DOID:0050771", source="MONDO:equivalentTo"}
xref: ONCOTREE:PHC {source="MONDO:equivalentTo"}
is_a: MONDO:0002513 ! kidney benign neoplasm
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0021511 ! benign neoplasm of adrenal gland
is_a: MONDO:0024286 ! benign blood vessel neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031511
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149711
property_value: exactMatch DOID:0050771
property_value: exactMatch http://identifiers.org/omim/171300

[Term]
id: MONDO:0008234
name: multiple endocrine neoplasia type 2A
def: "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." [Orphanet:247698]
subset: gard_rare {source="GARD:0004881"}
subset: ordo_clinical_subtype {source="Orphanet:247698"}
synonym: "MEA type 2a" EXACT [NCIT:C3226]
synonym: "MEA type II" EXACT [NCIT:C3226]
synonym: "men 2A" EXACT [NCIT:C3226]
synonym: "men type 2a" EXACT [NCIT:C3226]
synonym: "men type II" EXACT [NCIT:C3226]
synonym: "men-2A syndrome" RELATED [GARD:0004881]
synonym: "MEN2A" EXACT [DOID:0050430, Orphanet:247698]
synonym: "MEN2A" RELATED [MONDO:Lexical, OMIM:171400]
synonym: "multiple endocrine adenomatosis type 2A" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis type 2a" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis, type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia II" EXACT [DOID:0050430]
synonym: "multiple endocrine neoplasia type 2A" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia, type 2A" RELATED [OMIM:171400]
synonym: "multiple endocrine neoplasia, type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia, type IIA" RELATED [MONDO:Lexical, OMIM:171400]
synonym: "multiple endocrine neoplasia, type IIA; MEN2A" RELATED [OMIM:171400]
synonym: "pheochromocytoma and amyloid producing medullary thyroid carcinoma" RELATED [GARD:0004881]
synonym: "pheochromocytoma and amyloid-producing medullary thyroid carcinoma" RELATED [OMIM:171400]
synonym: "ptc syndrome" EXACT [OMIM:171400, Orphanet:247698]
synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698]
synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400]
xref: DOID:0050430 {source="MONDO:equivalentTo"}
xref: GARD:0004881 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="Orphanet:247698", source="ORDO:247698/attributed", source="ORDO:247698/ntbt"}
xref: ICD10:E31.22 {source="DOID:0050430"}
xref: ICD9:258.02 {source="DOID:0050430", source="MONDO:subClassOf"}
xref: MESH:D018813 {source="DOID:0050430", source="ORDO:247698/e", source="Orphanet:247698", source="MONDO:equivalentTo"}
xref: NCIT:C3226 {source="DOID:0050430", source="MONDO:equivalentTo"}
xref: OMIM:171400 {source="DOID:0050430", source="ORDO:247698/e", source="Orphanet:247698", source="MONDO:equivalentTo"}
xref: Orphanet:247698 {source="DOID:0050430", source="OMIM:171400", source="MONDO:equivalentTo"}
xref: SCTID:721188000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.18"}
xref: UMLS:C0025268 {source="DOID:0050430", source="ORDO:247698/e", source="OMIM:171400", source="Orphanet:247698", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3226"}
is_a: MONDO:0008082 ! multiple endocrine neoplasia type 2B
property_value: exactMatch DOID:0050430
property_value: exactMatch http://identifiers.org/mesh/D018813
property_value: exactMatch http://identifiers.org/omim/171400
property_value: exactMatch http://identifiers.org/snomedct/721188000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025268
property_value: exactMatch NCIT:C3226
property_value: exactMatch Orphanet:247698
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a xsd:anyURI {source="GARD:0004881"}

[Term]
id: MONDO:0008235
name: pheochromocytoma-islet cell tumor syndrome
subset: gard_rare {source="GARD:0004321"}
synonym: "pheochromocytoma and islet cell tumor of the pancreas" RELATED [GARD:0004321]
synonym: "pheochromocytoma--islet cell tumor syndrome" EXACT [OMIM:171420]
synonym: "pheochromocytoma-islet cell tumor syndrome" EXACT [GARD:0004321]
xref: GARD:0004321 {source="MONDO:equivalentTo"}
xref: MESH:C566807 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:171420 {source="MONDO:equivalentTo"}
xref: UMLS:C1868392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:171420"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566807
property_value: exactMatch http://identifiers.org/omim/171420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868392
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome xsd:anyURI {source="GARD:0004321"}

[Term]
id: MONDO:0008236
name: phlebectasia of lips
synonym: "phlebectasia of lips" EXACT [OMIM:171450]
xref: MESH:C566806 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:171450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868391 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:171450"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566806
property_value: exactMatch http://identifiers.org/omim/171450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868391

[Term]
id: MONDO:0008237
name: phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
def: "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." [Orphanet:2878]
subset: ordo_malformation_syndrome {source="Orphanet:2878"}
synonym: "facioauriculoradial dysplasia" RELATED [OMIM:171480]
synonym: "phocomelia ectrodactyly deafness sinus arrhythmia" RELATED [GARD:0004323]
synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" RELATED [OMIM:171480]
synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878]
synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323]
synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878]
xref: GARD:0004323 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="ORDO:2878/attributed", source="ORDO:2878/ntbt", source="Orphanet:2878"}
xref: MESH:C537498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="ORDO:2878/e"}
xref: Orphanet:2878 {source="MONDO:equivalentTo", source="OMIM:171480"}
xref: UMLS:C1868390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2878", source="OMIM:171480", source="ORDO:2878/e"}
is_a: MONDO:0017432 {source="Orphanet:2878"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:2878", source="Orphanet:2878/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019589 {source="Orphanet:2878"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C537498
property_value: exactMatch http://identifiers.org/omim/171480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868390
property_value: exactMatch Orphanet:2878

[Term]
id: MONDO:0008238
name: phosphatase, acid, of tissues
synonym: "Acp3--Alpha polypeptide" RELATED [OMIM:171660]
synonym: "lysosomal acid phosphatase" RELATED [OMIM:171660]
synonym: "phosphatase, acid, of tissues" EXACT [OMIM:171660]
xref: OMIM:171660 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876163
property_value: exactMatch http://identifiers.org/omim/171660

[Term]
id: MONDO:0008239
name: phosphoglucomutase 4
synonym: "milk PGM" RELATED [OMIM:172110]
synonym: "Pgm4" RELATED [OMIM:172110]
synonym: "phosphoglucomutase 4" EXACT [OMIM:172110]
synonym: "phosphoglucomutase type 4" EXACT [MONDORULE:1, OMIM:172110]
xref: OMIM:172110 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868356
property_value: exactMatch http://identifiers.org/omim/172110

[Term]
id: MONDO:0008240
name: 6-phosphogluconolactonase deficiency
synonym: "6-phosphogluconolactonase deficiency" EXACT [OMIM:172150]
synonym: "6Pgl deficiency" RELATED [OMIM:172150]
synonym: "Pgls deficiency" RELATED [OMIM:172150]
xref: MESH:C566803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:172150 {source="MONDO:equivalentTo"}
xref: UMLS:C1868355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:172150"}
is_a: MONDO:0003847 {source="MESH:C566803/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566803
property_value: exactMatch http://identifiers.org/omim/172150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868355

[Term]
id: MONDO:0008241
name: phosphoglycoprotein 1
synonym: "PGP1" RELATED [MONDO:Lexical, OMIM:172290]
synonym: "phosphoglycoprotein 1" EXACT [MONDO:Lexical, OMIM:172290]
synonym: "phosphoglycoprotein 1; PGP1" RELATED [OMIM:172290]
synonym: "phosphoglycoprotein type 1" EXACT [MONDORULE:1, OMIM:172290]
xref: OMIM:172290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868352
property_value: exactMatch http://identifiers.org/omim/172290

[Term]
id: MONDO:0008242
name: photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
synonym: "hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" RELATED [GARD:0009267]
synonym: "Herrmann syndrome" RELATED [OMIM:172500]
synonym: "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" EXACT [OMIM:172500]
xref: GARD:0009267 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538113 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:172500 {source="MONDO:equivalentTo"}
xref: SCTID:237612000 {source="MONDO:kboom-pr-0.99/0.73/5.15", source="MONDO:equivalentTo"}
xref: UMLS:C1809475 {source="OMIM:172500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538113
property_value: exactMatch http://identifiers.org/omim/172500
property_value: exactMatch http://identifiers.org/snomedct/237612000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1809475

[Term]
id: MONDO:0008243
name: Pick disease
def: "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." [NCIT:P378]
synonym: "dementia in Pick's disease" EXACT [DOID:11870]
synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" RELATED [OMIM:172700]
synonym: "lobar atrophy of brain" EXACT [DOID:11870, OMIM:172700]
synonym: "lobar atrophy of the brain" RELATED [GARD:0007392]
synonym: "Pick disease" EXACT [DOID:11870]
synonym: "PICK disease of brain" EXACT [DOID:11870, OMIM:172700]
synonym: "Pick disease of the brain" RELATED [GARD:0007392]
synonym: "Pick's disease" RELATED [DOID:11870]
xref: DOID:11870 {source="MONDO:equivalentTo", source="EFO:0003096"}
xref: EFO:0003096 {source="MONDO:equivalentTo"}
xref: GARD:0007392 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G31.01 {source="MONDO:equivalentTo", source="DOID:11870"}
xref: ICD9:331.11 {source="MONDO:equivalentTo", source="i2s", source="EFO:0003096", source="DOID:11870"}
xref: MESH:D020774 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0003096", source="DOID:11870"}
xref: NCIT:C85008 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:172700 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"}
xref: SCTID:13092008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26", source="EFO:0003096", source="DOID:11870"}
xref: UMLS:C0236642 {source="NCIT:C85008", source="MEDGEN:kboom-pr98-c99", source="OMIM:172700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:11870"}
is_a: MONDO:0017276 {source="MESH:D020774", source="ORDO:282/btnt"} ! frontotemporal dementia
is_a: MONDO:0024238 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral degeneration
is_a: MONDO:0044996 ! cerebral cortex disease
property_value: closeMatch http://identifiers.org/snomedct/154998003
property_value: closeMatch http://identifiers.org/snomedct/267688001
property_value: exactMatch DOID:11870
property_value: exactMatch http://identifiers.org/mesh/D020774
property_value: exactMatch http://identifiers.org/omim/172700
property_value: exactMatch http://identifiers.org/snomedct/13092008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236642
property_value: exactMatch NCIT:C85008

[Term]
id: MONDO:0008244
name: piebaldism
def: "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." [Orphanet:2884]
subset: gard_rare {source="GARD:0004344"}
subset: ordo_disease {source="Orphanet:2884"}
synonym: "partial albinism" EXACT [DOID:3263]
synonym: "PBT" RELATED [MONDO:Lexical, OMIM:172800]
synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800]
synonym: "piebald trait; PBT" RELATED [OMIM:172800]
synonym: "piebaldism" EXACT [OMIM:172800]
xref: DOID:3263 {source="MONDO:equivalentTo"}
xref: GARD:0004344 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="ORDO:2884/index", source="MONDO:relatedTo", source="Orphanet:2884", source="ORDO:2884/ntbt"}
xref: ICD10:E70.39 {source="DOID:3263"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016116 {source="ORDO:2884/e", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"}
xref: NCIT:C85009 {source="MONDO:kboom-pr-0.90/0.79/0.10", source="MONDO:equivalentTo", source="DOID:3263"}
xref: OMIM:172800 {source="ORDO:2884/e", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"}
xref: Orphanet:2884 {source="OMIM:172800", source="MONDO:equivalentTo"}
xref: SCTID:6479008 {source="MONDO:equivalentTo", source="DOID:3263", source="MONDO:kboom-pr-0.92/0.83/0.14"}
xref: UMLS:C0080024 {source="OMIM:172800", source="ORDO:2884/e", source="NCIT:C85009", source="NCBI:mim2gene_medline", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"}
is_a: MONDO:0000426 {source="DOID:3263", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019290 {source="MESH:D016116/inferred", source="Orphanet:2884"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0020276 {source="Orphanet:2884"} ! pigmentation disorder with eye involvement, excluding albinism
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0024255 ! genetic skin disease
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:2884"} ! obsolete eyebrow/eyelashes pigmentation anomaly
relationship: excluded_subClassOf MONDO:0043209 {source="linkedlifedata"} ! albinism
property_value: exactMatch DOID:3263
property_value: exactMatch http://identifiers.org/mesh/D016116
property_value: exactMatch http://identifiers.org/omim/172800
property_value: exactMatch http://identifiers.org/snomedct/6479008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080024
property_value: exactMatch NCIT:C85009
property_value: exactMatch Orphanet:2884
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4344/piebaldism xsd:anyURI {source="GARD:0004344"}

[Term]
id: MONDO:0008245
name: piebald trait-neurologic defects syndrome
def: "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." [Orphanet:2885]
subset: ordo_malformation_syndrome {source="Orphanet:2885"}
synonym: "piebald trait neurologic defects" RELATED [GARD:0005133]
synonym: "piebald trait with neurologic defects" RELATED [OMIM:172850]
synonym: "telfer Sugar Jaeger syndrome" RELATED [GARD:0005133]
synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885]
synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133]
xref: GARD:0005133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536955 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:172850 {source="Orphanet:2885", source="ORDO:2885/e", source="MONDO:equivalentTo"}
xref: Orphanet:2885 {source="MONDO:equivalentTo", source="OMIM:172850"}
xref: UMLS:C1868311 {source="Orphanet:2885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:172850"}
is_a: MONDO:0019290 {source="MESH:C536955/inferred", source="Orphanet:2885"} ! hypopigmentation of the skin (disease)
property_value: exactMatch http://identifiers.org/mesh/C536955
property_value: exactMatch http://identifiers.org/omim/172850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868311
property_value: exactMatch Orphanet:2885

[Term]
id: MONDO:0008246
name: pigmented paravenous retinochoroidal atrophy
def: "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." [Orphanet:251295]
subset: ordo_disease {source="Orphanet:251295"}
synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:172870]
synonym: "pigmented paravenous chorioretinal atrophy; PPCRA" RELATED [OMIM:172870]
synonym: "PPCRA" RELATED [MONDO:Lexical, OMIM:172870]
synonym: "PPRCA" EXACT [Orphanet:251295]
xref: ICD10:H35.5 {source="Orphanet:251295", source="ORDO:251295/attributed", source="ORDO:251295/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C566801 {source="MONDO:equivalentTo"}
xref: OMIM:172870 {source="ORDO:251295/e", source="Orphanet:251295", source="MONDO:equivalentTo"}
xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"}
xref: SCTID:723450004 {source="MONDO:equivalentTo"}
xref: UMLS:C1868310 {source="Orphanet:251295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:172870"}
is_a: MONDO:0019118 {source="Orphanet:251295"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C566801
property_value: exactMatch http://identifiers.org/omim/172870
property_value: exactMatch http://identifiers.org/snomedct/723450004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868310
property_value: exactMatch Orphanet:251295

[Term]
id: MONDO:0008247
name: robin sequence-oligodactyly syndrome
def: "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." [Orphanet:3104]
subset: ordo_malformation_syndrome {source="Orphanet:3104"}
synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104]
synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880]
synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880]
xref: GARD:0004729 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:3104", source="ORDO:3104/attributed", source="ORDO:3104/ntbt"}
xref: MESH:C535688 {source="ORDO:3104/e", source="Orphanet:3104", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:172880 {source="ORDO:3104/e", source="Orphanet:3104", source="MONDO:equivalentTo"}
xref: Orphanet:3104 {source="MONDO:equivalentTo", source="OMIM:172880"}
xref: UMLS:C1868309 {source="ORDO:3104/e", source="NCBI:mim2gene_medline", source="Orphanet:3104", source="MONDO:equivalentTo", source="OMIM:172880", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015335 {source="Orphanet:3104"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C535688
property_value: exactMatch http://identifiers.org/omim/172880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868309
property_value: exactMatch Orphanet:3104

[Term]
id: MONDO:0008248
name: pigmented purpuric eruption
synonym: "familial pigmented purpuric eruption" RELATED [GARD:0007609]
synonym: "pigmented purpura" RELATED [GARD:0007609]
synonym: "pigmented purpuric dermatosis" RELATED [GARD:0007609]
synonym: "pigmented purpuric eruption" EXACT [OMIM:172900]
synonym: "progressive pigmented purpura" RELATED [GARD:0007609]
synonym: "Schamberg disease" RELATED [GARD:0007609]
synonym: "Schamberg purpura" RELATED [GARD:0007609]
xref: GARD:0007609 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537186 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:172900 {source="MONDO:equivalentTo"}
xref: SCTID:20343006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.48"}
xref: UMLS:C0406515 {source="OMIM:172900", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263396
property_value: exactMatch http://identifiers.org/mesh/C537186
property_value: exactMatch http://identifiers.org/omim/172900
property_value: exactMatch http://identifiers.org/snomedct/20343006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406515

[Term]
id: MONDO:0008249
name: pilonidal sinus (disease)
def: "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." [MESH:D010864]
synonym: "pilonidal sinus" EXACT [MONDO:ambiguous, OMIM:173000]
xref: HP:0010769 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D010864 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173000 {source="MONDO:equivalentTo"}
xref: SCTID:47639008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031925
property_value: exactMatch http://identifiers.org/mesh/D010864
property_value: exactMatch http://identifiers.org/omim/173000
property_value: exactMatch http://identifiers.org/snomedct/47639008

[Term]
id: MONDO:0008250
name: isolated growth hormone deficiency type II
subset: gard_rare {source="GARD:0001696"}
subset: ordo_clinical_subtype {source="Orphanet:231679"}
synonym: "autosomal dominant isolated growth hormone deficiency" EXACT [DOID:0060872]
synonym: "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT [DOID:0060872]
synonym: "congenital IGHD type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "congenital isolated GH deficiency type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "congenital isolated growth hormone deficiency type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "Growth hormone deficiency, isolated autosomal dominant" RELATED [GARD:0001696]
synonym: "Growth hormone deficiency, isolated, autosomal dominant" RELATED [OMIM:173100]
synonym: "IGHD 2" RELATED [OMIM:173100]
synonym: "IGHD II" EXACT [DOID:0060872]
synonym: "IGHD2" RELATED [MONDO:Lexical, OMIM:173100]
synonym: "isolated growth hormone deficiency type 2" RELATED [GARD:0001696]
synonym: "isolated Growth hormone deficiency, type 2" RELATED [OMIM:173100]
synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical, OMIM:173100]
synonym: "isolated growth hormone deficiency, type II; IGHD2" RELATED [OMIM:173100]
synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" RELATED [GARD:0001696]
synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100]
xref: DOID:0060872 {source="MONDO:equivalentTo"}
xref: GARD:0001696 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="ORDO:231679/attributed", source="ORDO:231679/ntbt", source="DOID:0060872", source="Orphanet:231679"}
xref: MESH:C562704 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173100 {source="DOID:0060872", source="MONDO:equivalentTo", source="ORDO:231679/e", source="Orphanet:231679"}
xref: Orphanet:231679 {source="DOID:0060872", source="MONDO:equivalentTo", source="OMIM:173100"}
xref: SCTID:237687003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C0271567 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:173100", source="Orphanet:231679"}
is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="Orphanet:231679", source="linkedlifedata"} ! isolated congenital growth hormone deficiency
property_value: exactMatch DOID:0060872
property_value: exactMatch http://identifiers.org/mesh/C562704
property_value: exactMatch http://identifiers.org/omim/173100
property_value: exactMatch http://identifiers.org/snomedct/237687003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271567
property_value: exactMatch Orphanet:231679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 xsd:anyURI {source="GARD:0001696"}

[Term]
id: MONDO:0008251
name: pityriasis rubra pilaris
def: "Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." [Orphanet:2897]
subset: gard_rare {source="GARD:0007401"}
subset: ordo_disease {source="Orphanet:2897"}
synonym: "Devergie's disease" EXACT [DOID:9212, MTHICD9_2006:696.4]
synonym: "pityriasis rubra pilaris" EXACT [MONDO:Lexical, OMIM:173200]
synonym: "PITYRIASIS rubra pilaris; PrP" RELATED [OMIM:173200]
synonym: "PrP" RELATED [MONDO:Lexical, OMIM:173200]
xref: COHD:136774 {source="MONDO:equivalentTo"}
xref: DOID:9212 {source="MONDO:equivalentTo"}
xref: GARD:0007401 {source="MONDO:equivalentTo"}
xref: ICD10:L44.0 {source="ORDO:2897/specific", source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212"}
xref: ICD9:696.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:9212"}
xref: MedDRA:10035116 {source="ORDO:2897/e", source="Orphanet:2897"}
xref: MESH:D010916 {source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="MONDO:ontobio", source="DOID:9212"}
xref: NCIT:C85014 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:9212"}
xref: OMIM:173200 {source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212"}
xref: Orphanet:2897 {source="MONDO:equivalentTo", source="OMIM:173200"}
xref: SCTID:3755001 {source="MONDO:equivalentTo", source="DOID:9212", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032027 {source="ORDO:2897/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
is_a: MONDO:0019270 {source="Orphanet:2897"} ! erythrokeratoderma
relationship: excluded_subClassOf MONDO:0005083 {source="DOID:9212"} ! psoriasis
property_value: exactMatch DOID:9212
property_value: exactMatch http://identifiers.org/meddra/10035116
property_value: exactMatch http://identifiers.org/mesh/D010916
property_value: exactMatch http://identifiers.org/omim/173200
property_value: exactMatch http://identifiers.org/snomedct/3755001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032027
property_value: exactMatch NCIT:C85014
property_value: exactMatch Orphanet:2897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris xsd:anyURI {source="GARD:0007401"}

[Term]
id: MONDO:0008252
name: platelet adenylate cyclase activity
synonym: "platelet adenylate cyclase activity" EXACT [OMIM:173395]
xref: OMIM:173395 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868264
property_value: exactMatch http://identifiers.org/omim/173395

[Term]
id: MONDO:0008253
name: platelet aggregation, spontaneous
synonym: "platelet aggregation, spontaneous" EXACT [OMIM:173400]
xref: MESH:C566800 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173400 {source="MONDO:equivalentTo"}
xref: UMLS:C1868263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:173400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566800
property_value: exactMatch http://identifiers.org/omim/173400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868263

[Term]
id: MONDO:0008254
name: platelet disorder, undefined
synonym: "platelet disorder, undefined" EXACT [OMIM:173420]
xref: MESH:C566799 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173420 {source="MONDO:equivalentTo"}
xref: UMLS:C1868258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:173420"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566799
property_value: exactMatch http://identifiers.org/omim/173420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868258

[Term]
id: MONDO:0008255
name: platelet factor 3 deficiency
synonym: "platelet factor 3 deficiency" EXACT [OMIM:173450]
xref: MESH:C566798 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:173450"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566798
property_value: exactMatch http://identifiers.org/omim/173450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868256

[Term]
id: MONDO:0008256
name: platelet membrane fluidity
synonym: "platelet membrane fluidity" EXACT [MONDO:Lexical, OMIM:173560]
synonym: "platelet membrane fluidity; PMF" RELATED [OMIM:173560]
synonym: "PMF" RELATED [MONDO:Lexical, OMIM:173560]
xref: OMIM:173560 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868201
property_value: exactMatch http://identifiers.org/omim/173560

[Term]
id: MONDO:0008257
name: platelet responsiveness to adrenaline, depressed
synonym: "platelet responsiveness to adrenaline, depressed" EXACT [OMIM:173580]
xref: OMIM:173580 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868200
property_value: exactMatch http://identifiers.org/omim/173580

[Term]
id: MONDO:0008258
name: platelet signal processing defect
synonym: "platelet signal processing defect" EXACT [OMIM:173590]
xref: MESH:C566796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173590 {source="MONDO:equivalentTo"}
xref: UMLS:C1868199 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:173590"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566796
property_value: exactMatch http://identifiers.org/omim/173590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868199

[Term]
id: MONDO:0008259
name: familial spontaneous pneumothorax
def: "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." [Orphanet:2903]
subset: ordo_disease {source="Orphanet:2903"}
synonym: "pneumothorax, primary spontaneous" RELATED [OMIM:173600]
synonym: "primary spontaneous pneumothorax" RELATED [DOID:0080218, GARD:0004997]
synonym: "Psp" RELATED [OMIM:173600]
synonym: "spontaneous pneumothorax" RELATED [GARD:0004997]
xref: DOID:0080218 {source="MONDO:equivalentTo"}
xref: GARD:0004997 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:J93.1 {source="ORDO:2903/attributed", source="ORDO:2903/ntbt", source="Orphanet:2903"}
xref: MESH:C566795 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173600 {source="MONDO:equivalentTo", source="ORDO:2903/e", source="DOID:0080218", source="Orphanet:2903"}
xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"}
xref: SCTID:715219001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1868193 {source="OMIM:173600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4275252 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pneumothorax (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: exactMatch DOID:0080218
property_value: exactMatch http://identifiers.org/mesh/C566795
property_value: exactMatch http://identifiers.org/omim/173600
property_value: exactMatch http://identifiers.org/snomedct/715219001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275252
property_value: exactMatch Orphanet:2903

[Term]
id: MONDO:0008260
name: Kindler syndrome
def: "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." [Orphanet:2908]
subset: ordo_clinical_subtype {source="Orphanet:2908"}
synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [OMIM:173650]
synonym: "congenital bullous poikiloderma" RELATED [GARD:0004391]
synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT EXCLUDE [DOID:0060472]
synonym: "Kindler syndrome" EXACT [OMIM:173650]
synonym: "KINDLER syndrome; KNDLRS" RELATED [OMIM:173650]
synonym: "KNDLRS" RELATED [OMIM:173650]
synonym: "KS" EXACT [Orphanet:2908]
synonym: "poikiloderma of Kindler" EXACT [DOID:0060472, Orphanet:2908]
synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:173650]
synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650]
xref: DOID:0060472 {source="MONDO:equivalentTo"}
xref: GARD:0004391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.8 {source="Orphanet:2908", source="ORDO:2908/attributed", source="ORDO:2908/ntbt"}
xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="ORDO:2908/e", source="MONDO:equivalentTo"}
xref: OMIM:173650 {source="MONDO:equivalentTo"}
xref: Orphanet:2908 {source="MONDO:equivalentTo"}
xref: SCTID:238836000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.26"}
is_a: MONDO:0019276 {source="Orphanet:2908"} ! inherited epidermolysis bullosa
property_value: exactMatch DOID:0060472
property_value: exactMatch http://identifiers.org/mesh/C536321
property_value: exactMatch http://identifiers.org/omim/173650
property_value: exactMatch http://identifiers.org/snomedct/238836000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406557
property_value: exactMatch Orphanet:2908

[Term]
id: MONDO:0008261
name: hereditary sclerosing poikiloderma, Weary type
subset: ordo_disease {source="Orphanet:221039"}
synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700]
xref: ICD10:Q82.8 {source="ORDO:221039/attributed", source="ORDO:221039/ntbt", source="Orphanet:221039"}
xref: MESH:C562824 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="ORDO:221039/e"}
xref: Orphanet:221039 {source="OMIM:173700", source="MONDO:equivalentTo"}
is_a: MONDO:0016382 {source="Orphanet:221039"} ! hereditary poikiloderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343094
property_value: exactMatch http://identifiers.org/mesh/C562824
property_value: exactMatch http://identifiers.org/omim/173700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275083
property_value: exactMatch Orphanet:221039

[Term]
id: MONDO:0008262
name: Poland syndrome
def: "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." [Orphanet:2911]
subset: gard_rare {source="GARD:0007412"}
subset: ordo_malformation_syndrome {source="Orphanet:2911"}
synonym: "pectoralis muscle, absence of" RELATED [OMIM:173800]
synonym: "Poland anomaly" EXACT [Orphanet:2911]
synonym: "Poland sequence" EXACT [OMIM:173800, Orphanet:2911]
synonym: "Poland syndactyly" RELATED [OMIM:173800]
synonym: "Poland syndrome" EXACT [OMIM:173800]
synonym: "Poland's syndactyly" EXACT [DOID:12961]
synonym: "Poland's syndrome" RELATED [GARD:0007412]
synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412]
xref: DOID:12961 {source="MONDO:equivalentTo"}
xref: GARD:0007412 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="ORDO:2911/ntbt", source="Orphanet:2911", source="ORDO:2911/inclusion", source="DOID:12961"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036007 {source="Orphanet:2911", source="ORDO:2911/e"}
xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="DOID:12961"}
xref: NCIT:C85017 {source="MONDO:equivalentTo", source="DOID:12961", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:173800 {source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="DOID:12961"}
xref: Orphanet:2911 {source="OMIM:173800", source="MONDO:equivalentTo"}
xref: SCTID:38371006 {source="MONDO:equivalentTo", source="DOID:12961", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032357 {source="OMIM:173800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="NCIT:C85017", source="DOID:12961"}
is_a: MONDO:0015856 {source="Orphanet:2911"} ! syndromic breast hypoplasia/aplasia
is_a: MONDO:0019066 {source="Orphanet:2911", source="Orphanet:2911/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://identifiers.org/snomedct/205524002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868156
property_value: exactMatch DOID:12961
property_value: exactMatch http://identifiers.org/meddra/10036007
property_value: exactMatch http://identifiers.org/mesh/D011045
property_value: exactMatch http://identifiers.org/omim/173800
property_value: exactMatch http://identifiers.org/snomedct/38371006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032357
property_value: exactMatch NCIT:C85017
property_value: exactMatch Orphanet:2911
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome xsd:anyURI {source="GARD:0007412"}

[Term]
id: MONDO:0008263
name: polycystic kidney disease 1
def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "APKD1" EXACT [DOID:0110858]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD1" EXACT [MONDO:design_pattern]
synonym: "PKD1" EXACT [DOID:0110858]
synonym: "PKD1" RELATED [MONDO:Lexical, OMIM:173900]
synonym: "PKD1 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "polycystic kidney disease 1" EXACT [MONDO:Lexical, OMIM:173900]
synonym: "polycystic kidney disease 1 with or without polycystic liver disease" RELATED [OMIM:173900]
synonym: "polycystic kidney disease 1 with or without polycystic liver disease; PKD1" RELATED [OMIM:173900]
synonym: "polycystic kidney disease 1; PKD1" RELATED [OMIM:173900]
synonym: "polycystic kidney disease type 1" EXACT [DOID:0110858, MONDORULE:1, OMIM:173900]
synonym: "polycystic kidney disease, adult" RELATED [OMIM:173900]
synonym: "polycystic kidney disease, adult, type 1" RELATED [OMIM:173900]
synonym: "polycystic kidney disease, adult, type I" EXACT [DOID:0110858]
synonym: "Potter type 3 polycystic kidney disease" RELATED [OMIM:173900]
synonym: "Potter type 3 polycystic kidney disease, formerly" RELATED [OMIM:173900]
xref: DOID:0110858 {source="MONDO:equivalentTo"}
xref: OMIM:173900 {source="MONDO:equivalentTo", source="DOID:0110858"}
xref: SCTID:253878003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C3149841 {source="OMIM:173900", source="MONDO:equivalentTo"}
is_a: MONDO:0004691 {source="DC-OMIM:173900", source="DOID:0110858", source="MONDO:Redundant", source="OMIM:173900", source="linkedlifedata"} ! autosomal dominant polycystic kidney disease
relationship: disease_causes_feature MONDO:0001558 {source="GARD:0004462", source="https://en.wikipedia.org/wiki/Potter_sequence"} ! Potter sequence
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085413
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868148
property_value: exactMatch DOID:0110858
property_value: exactMatch http://identifiers.org/omim/173900
property_value: exactMatch http://identifiers.org/snomedct/253878003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3149841

[Term]
id: MONDO:0008264
name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia
def: "An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1." [NCIT:P378]
subset: gard_rare
subset: ordo_disease {source="Orphanet:34149"}
synonym: "ADTKD" EXACT [Orphanet:34149]
synonym: "autosomal dominant interstitial kidney disease" EXACT [NCIT:C123171]
synonym: "autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:34149]
synonym: "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" EXACT [GARD:0010801]
synonym: "autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:34149]
synonym: "MCKD" RELATED [GARD:0010801, OMIM:174000]
synonym: "medullary cystic disease" RELATED [GARD:0010801]
synonym: "medullary cystic kidney disease" RELATED [GARD:0010801]
synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000]
xref: EFO:0008617 {source="MONDO:equivalentTo"}
xref: GARD:0010801 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.5 {source="Orphanet:34149", source="ORDO:34149/specific", source="ORDO:34149/e"}
xref: MEDGEN:358137 {source="UMLS:C1868139", source="MONDO:equivalentTo"}
xref: MEDGEN:881357 {source="MONDO:equivalentTo", source="UMLS:C4054549"}
xref: MESH:C536137 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:34149 {source="MONDO:equivalentTo", source="OMIM:174000", source="GARD:0010801"}
xref: SCTID:444699000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4054549 {source="NCIT:C123171", source="MONDO:equivalentTo"}
xref: UMLS:C4511620 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN204412 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN536252 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0019741 {source="Orphanet:34149"} ! familial cystic renal disease
property_value: exactMatch http://identifiers.org/medgen/358137
property_value: exactMatch http://identifiers.org/medgen/881357
property_value: exactMatch http://identifiers.org/mesh/C536137
property_value: exactMatch http://identifiers.org/snomedct/444699000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536252
property_value: exactMatch Orphanet:34149
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease xsd:anyURI {source="GARD:0010801"}

[Term]
id: MONDO:0008265
name: polycystic liver disease 1
def: "A genetic disorder characterized by the appearance of numerous cysts spread throughout the liver." [Orphanet:2924]
subset: ordo_malformation_syndrome {source="Orphanet:2924"}
synonym: "ADPCLD" RELATED [Orphanet:2924]
synonym: "autosomal dominant polycystic liver disease" RELATED [Orphanet:2924]
synonym: "isolated autosomal dominant polycystic liver disease" RELATED [GARD:0009457]
synonym: "isolated congenital polycystic liver disease" EXACT [] {source="Orphanet:2924"}
synonym: "isolated polycystic liver disease" EXACT [] {source="Orphanet:2924"}
synonym: "nonsyndromic congenital polycystic liver disease" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic polycystic liver disease (disease)" EXACT [MONDO:patterns/isolated]
synonym: "PCLD" RELATED [MONDO:Lexical, OMIM:174050, Orphanet:2924]
synonym: "PCLD1" EXACT [OMIM:174050]
synonym: "polycystic liver disease" RELATED [MONDO:Lexical, OMIM:174050]
synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [OMIM:174050]
synonym: "polycystic liver disease 1 with or without kidney cysts; PCLD1" EXACT [OMIM:174050]
synonym: "polycystic liver disease; PCLD" RELATED [OMIM:174050]
xref: ICD10:Q44.6 {source="ORDO:2924/specific", source="Orphanet:2924", source="ORDO:2924/e"}
xref: MedDRA:10010427 {source="Orphanet:2924", source="ORDO:2924/e"}
xref: MedDRA:10048834 {source="Orphanet:2924", source="ORDO:2924/e"}
xref: OMIM:174050 {source="MONDO:equivalentTo", source="Orphanet:2924", source="ORDO:2924/e"}
xref: Orphanet:2924 {source="OMIM:174050", source="MONDO:equivalentTo"}
xref: SCTID:716196007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4255088 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000447 {source="DC-OMIM:174050", source="MONDO:Redundant", source="MONDOLEX:0008265", source="OMIM:174050"} ! autosomal dominant polycystic liver disease
is_a: MONDO:0015509 {source="Orphanet:2924"} ! genetic biliary tract disease
intersection_of: MONDO:0000447 ! autosomal dominant polycystic liver disease
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/meddra/10010427
property_value: exactMatch http://identifiers.org/meddra/10048834
property_value: exactMatch http://identifiers.org/omim/174050
property_value: exactMatch http://identifiers.org/snomedct/716196007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4255088
property_value: exactMatch Orphanet:2924

[Term]
id: MONDO:0008266
name: polydactyly, postaxial, type A1
synonym: "PAPA1" RELATED [MONDO:Lexical, OMIM:174200]
synonym: "polydactyly, postaxial" RELATED [OMIM:174200]
synonym: "polydactyly, postaxial, type A1" EXACT [MONDO:Lexical, OMIM:174200]
synonym: "polydactyly, postaxial, type A1; PAPA1" RELATED [OMIM:174200]
synonym: "postaxial polydactyly, type A" RELATED [OMIM:174200]
synonym: "postaxial polydactyly, type B" RELATED [OMIM:174200]
xref: OMIM:174200 {source="MONDO:equivalentTo"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220697
property_value: exactMatch http://identifiers.org/omim/174200

[Term]
id: MONDO:0008267
name: orofaciodigital syndrome V
def: "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." [Orphanet:2919]
subset: gard_rare {source="GARD:0004120"}
subset: ordo_malformation_syndrome {source="Orphanet:2919"}
synonym: "OFD syndrome 5" RELATED [GARD:0004120]
synonym: "OFD5" EXACT [DOID:0060375, Orphanet:2919]
synonym: "OFD5" RELATED [MONDO:Lexical, OMIM:174300]
synonym: "Ofds 5" RELATED [OMIM:174300]
synonym: "oral facial digital syndrome 5" RELATED [GARD:0004120]
synonym: "oral facial digital syndrome type 5" RELATED [GARD:0004120]
synonym: "oral-facial-digital syndrome 5" RELATED [GARD:0004120]
synonym: "oral-facial-digital syndrome type 5" EXACT [Orphanet:2919]
synonym: "oral-Facial-digital syndrome, type 5" RELATED [OMIM:174300]
synonym: "orofaciodigital syndrome 5" RELATED [GARD:0004120]
synonym: "orofaciodigital syndrome Thurston type" EXACT [DOID:0060375]
synonym: "orofaciodigital syndrome type 5" EXACT [MONDORULE:1, OMIM:174300]
synonym: "orofaciodigital syndrome type V" EXACT [DOID:0060375, MONDORULE:1]
synonym: "orofaciodigital syndrome V" EXACT [MONDO:Lexical, OMIM:174300]
synonym: "orofaciodigital syndrome V; OFD5" RELATED [OMIM:174300]
synonym: "orofaciodigital syndrome, Thurston type" EXACT [OMIM:174300, Orphanet:2919]
synonym: "polydactyly postaxial with median cleft of upper lip" EXACT [Orphanet:2919]
synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM:174300]
synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375]
synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919]
xref: DOID:0060375 {source="MONDO:equivalentTo"}
xref: GARD:0004120 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2919", source="ORDO:2919/attributed", source="ORDO:2919/ntbt"}
xref: MESH:C557819 {source="DOID:0060375", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:174300 {source="Orphanet:2919", source="ORDO:2919/e", source="DOID:0060375", source="MONDO:equivalentTo"}
xref: Orphanet:2919 {source="DOID:0060375", source="MONDO:equivalentTo", source="OMIM:174300"}
xref: SCTID:722105002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.47"}
xref: UMLS:C1868118 {source="Orphanet:2919", source="ORDO:2919/e", source="DOID:0060375", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174300"}
is_a: MONDO:0000508 {source="Orphanet:2919"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="Orphanet:2919", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060375
property_value: exactMatch http://identifiers.org/mesh/C557819
property_value: exactMatch http://identifiers.org/omim/174300
property_value: exactMatch http://identifiers.org/snomedct/722105002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868118
property_value: exactMatch Orphanet:2919
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 xsd:anyURI {source="GARD:0004120"}

[Term]
id: MONDO:0008268
name: polydactyly-myopia syndrome
def: "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." [Orphanet:2917]
subset: gard_rare {source="GARD:0004413"}
subset: ordo_malformation_syndrome {source="Orphanet:2917"}
synonym: "Czeizel Brooser syndrome" RELATED [GARD:0004413]
synonym: "Czeizel-Brooser syndrome" EXACT [Orphanet:2917]
synonym: "PMS" RELATED [GARD:0004413]
synonym: "polydactyly myopia syndrome" RELATED [GARD:0004413]
synonym: "polydactyly, postaxial, with progressive myopia" RELATED [OMIM:174310]
synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310]
synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413]
synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413]
xref: GARD:0004413 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:2917/attributed", source="ORDO:2917/ntbt", source="Orphanet:2917"}
xref: ICD9:625.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C536331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:174310 {source="MONDO:equivalentTo", source="Orphanet:2917", source="ORDO:2917/e"}
xref: Orphanet:2917 {source="MONDO:equivalentTo", source="OMIM:174310"}
xref: SCTID:82639001 {source="MONDO:kboom-pr-0.74/0.45/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:2917"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868117
property_value: exactMatch http://identifiers.org/mesh/C536331
property_value: exactMatch http://identifiers.org/omim/174310
property_value: exactMatch http://identifiers.org/snomedct/82639001
property_value: exactMatch Orphanet:2917
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome xsd:anyURI {source="GARD:0004413"}

[Term]
id: MONDO:0008269
name: polydactyly of a biphalangeal thumb
def: "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." [Orphanet:93339]
subset: ordo_morphological_anomaly {source="Orphanet:93339"}
synonym: "Fromont anomaly" RELATED [OMIM:174400]
synonym: "polydactyly preaxial 1" RELATED [GARD:0004417]
synonym: "polydactyly, preaxial 1" RELATED [OMIM:174400]
synonym: "polydactyly, preaxial I" RELATED [OMIM:174400]
synonym: "polydactyly, preaxial type 1" EXACT [MONDORULE:1, OMIM:174400]
synonym: "PPD1" EXACT [Orphanet:93339]
synonym: "preaxial polydactyly 1" RELATED [GARD:0004417]
synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339]
synonym: "thenar hypoplasia" RELATED [OMIM:174400]
synonym: "thumb polydactyly" RELATED [OMIM:174400]
xref: GARD:0004417 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q69.1 {source="ORDO:93339/e", source="Orphanet:93339", source="ORDO:93339/specific"}
xref: MESH:C536332 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:174400 {source="MONDO:equivalentTo", source="ORDO:93339/e", source="Orphanet:93339"}
xref: Orphanet:93339 {source="MONDO:equivalentTo", source="OMIM:174400"}
xref: SCTID:445216006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0017425 {source="DC-OMIM:174400", source="Orphanet:93339"} ! preaxial polydactyly of fingers
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1395852
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846474
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868116
property_value: exactMatch http://identifiers.org/mesh/C536332
property_value: exactMatch http://identifiers.org/omim/174400
property_value: exactMatch http://identifiers.org/snomedct/445216006
property_value: exactMatch Orphanet:93339

[Term]
id: MONDO:0008270
name: polydactyly of a triphalangeal thumb
def: "Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)." [Orphanet:93336]
subset: ordo_morphological_anomaly {source="Orphanet:93336"}
synonym: "polydactyly of triphalangeal thumb" RELATED [OMIM:174500]
synonym: "polydactyly, preaxial 2" RELATED [OMIM:174500]
synonym: "polydactyly, preaxial II" RELATED [MONDO:Lexical, OMIM:174500]
synonym: "polydactyly, preaxial II; PPD2" RELATED [OMIM:174500]
synonym: "polydactyly, preaxial type 2" EXACT [MONDORULE:1, OMIM:174500]
synonym: "PPD2" EXACT [MONDO:Lexical, OMIM:174500, Orphanet:93336]
synonym: "preaxial polydactyly type 2" EXACT [Orphanet:93336]
synonym: "TPT-PS syndrome" RELATED [OMIM:174500]
synonym: "triphalangeal thumb" RELATED [OMIM:174500]
synonym: "triphalangeal thumb with polysyndactyly" RELATED [OMIM:174500]
synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500]
synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500]
xref: GARD:0005289 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q69.1 {source="ORDO:93336/attributed", source="ORDO:93336/ntbt", source="Orphanet:93336"}
xref: OMIM:174500 {source="MONDO:equivalentTo", source="ORDO:93336/ntbt", source="Orphanet:93336"}
xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"}
xref: SCTID:715710001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868114 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93336", source="OMIM:174500"}
is_a: MONDO:0017425 {source="DC-OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241397
property_value: exactMatch http://identifiers.org/omim/174500
property_value: exactMatch http://identifiers.org/snomedct/715710001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868114
property_value: exactMatch Orphanet:93336

[Term]
id: MONDO:0008271
name: polydactyly of an index finger
def: "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962." [Orphanet:93337]
subset: ordo_morphological_anomaly {source="Orphanet:93337"}
synonym: "index finger polydactyly" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial 3" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial III" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600]
synonym: "PPD3" EXACT [Orphanet:93337]
synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337]
xref: GARD:0002256 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q69.0 {source="ORDO:93337/attributed", source="ORDO:93337/ntbt", source="Orphanet:93337"}
xref: MESH:C566784 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:174600 {source="MONDO:equivalentTo", source="ORDO:93337/e", source="Orphanet:93337"}
xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"}
xref: SCTID:723446006 {source="MONDO:equivalentTo"}
xref: UMLS:C1868113 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93337", source="OMIM:174600"}
is_a: MONDO:0017425 {source="DC-OMIM:174600", source="Orphanet:93337"} ! preaxial polydactyly of fingers
property_value: exactMatch http://identifiers.org/mesh/C566784
property_value: exactMatch http://identifiers.org/omim/174600
property_value: exactMatch http://identifiers.org/snomedct/723446006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868113
property_value: exactMatch Orphanet:93337

[Term]
id: MONDO:0008272
name: polysyndactyly 4
def: "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." [Orphanet:93338]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:93338"}
synonym: "crossed polydactyly type 1" RELATED [GARD:0001616]
synonym: "crossed polydactyly, type 1" RELATED [OMIM:174700]
synonym: "polydactyly preaxial 4" RELATED [GARD:0009903]
synonym: "polydactyly, preaxial 4" RELATED [OMIM:174700]
synonym: "polydactyly, preaxial IV" RELATED [OMIM:174700]
synonym: "polydactyly, preaxial type 4" EXACT [MONDORULE:1, OMIM:174700]
synonym: "polysyndactyly uncomplicated" RELATED [GARD:0009903]
synonym: "polysyndactyly, uncomplicated" RELATED [OMIM:174700]
synonym: "PPD4" EXACT [Orphanet:93338]
synonym: "preaxial polydactyly 4" RELATED [GARD:0009903]
synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338]
xref: COHD:79126 {source="MONDO:equivalentTo"}
xref: GARD:0001616 {source="MONDO:equivalentTo"}
xref: GARD:0009903 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q70.4 {source="ORDO:93338/e", source="Orphanet:93338", source="ORDO:93338/specific"}
xref: ICD9:755.10 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063143 {source="ORDO:93338/e", source="Orphanet:93338"}
xref: NCIT:C125597 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:174700 {source="MONDO:equivalentTo", source="ORDO:93338/e", source="Orphanet:93338"}
xref: Orphanet:93338 {source="OMIM:174700", source="MONDO:equivalentTo"}
xref: SCTID:84598000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265553 {source="MONDO:equivalentTo", source="NCIT:C125597", source="ORDO:93338/e", source="Orphanet:93338"}
xref: UMLS:C1868111 {source="OMIM:174700", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93338"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017425 {source="DC-OMIM:174700", source="Orphanet:93338"} ! preaxial polydactyly of fingers
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C125597"} ! metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868112
property_value: exactMatch http://identifiers.org/meddra/10063143
property_value: exactMatch http://identifiers.org/omim/174700
property_value: exactMatch http://identifiers.org/snomedct/84598000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868111
property_value: exactMatch NCIT:C125597
property_value: exactMatch Orphanet:93338
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 xsd:anyURI {source="GARD:0001616"}

[Term]
id: MONDO:0008273
name: actinic prurigo
subset: ordo_disease {source="Orphanet:330061"}
synonym: "actinic prurigo" EXACT [OMIM:174770]
synonym: "familial polymorphous light eruption of American Indians" EXACT [Orphanet:330061]
synonym: "hereditary polymorphous light eruption of American Indians" EXACT [Orphanet:330061]
synonym: "Hutchinson summer prurigo" EXACT [Orphanet:330061]
synonym: "hydroa aestivale" EXACT [Orphanet:330061]
synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770]
synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770]
xref: COHD:141374 {source="MONDO:equivalentTo"}
xref: ICD10:L56.4 {source="Orphanet:330061", source="ORDO:330061/ntbt"}
xref: OMIM:174770 {source="MONDO:equivalentTo", source="Orphanet:330061", source="ORDO:330061/e"}
xref: Orphanet:330061 {source="MONDO:equivalentTo"}
xref: SCTID:201015007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0406217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174770", source="Orphanet:330061"}
is_a: MONDO:0019304 {source="Orphanet:330061"} ! rare photodermatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868090
property_value: exactMatch http://identifiers.org/omim/174770
property_value: exactMatch http://identifiers.org/snomedct/201015007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406217
property_value: exactMatch Orphanet:330061

[Term]
id: MONDO:0008274
name: polyostotic fibrous dysplasia
def: "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:93276"}
synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609]
synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610]
xref: ICD10:Q78.1 {source="Orphanet:93276", source="MONDO:equivalentTo", source="ORDO:93276/attributed", source="ORDO:93276/ntbt"}
xref: ICD9:756.54 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10036120 {source="ORDO:93276/e", source="Orphanet:93276"}
xref: MESH:D005359 {source="ORDO:93276/e", source="Orphanet:93276", source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: NCIT:C34610 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:93276 {source="MONDO:equivalentTo"}
xref: SCTID:36517007 {source="MONDO:equivalentTo"}
is_a: MONDO:0016640 {source="MESH:D005359", source="Orphanet:93276", source="linkedlifedata"} ! fibrous dysplasia of bone
property_value: exactMatch http://identifiers.org/meddra/10036120
property_value: exactMatch http://identifiers.org/mesh/D005359
property_value: exactMatch http://identifiers.org/snomedct/36517007
property_value: exactMatch NCIT:C34610
property_value: exactMatch Orphanet:93276

[Term]
id: MONDO:0008275
name: familial expansile osteolysis
subset: ordo_disease {source="Orphanet:85195"}
synonym: "EOF" RELATED [GARD:0009168]
synonym: "expansile osteolysis, familial" RELATED [OMIM:174810]
synonym: "familial expansile osteolysis" EXACT [MONDO:Lexical, OMIM:174810]
synonym: "familial expansile osteolysis; FEO" RELATED [OMIM:174810]
synonym: "FEO" RELATED [MONDO:Lexical, OMIM:174810]
synonym: "HEPOD" RELATED [GARD:0009168]
synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [Orphanet:85195]
synonym: "McCabe disease" EXACT [Orphanet:85195]
synonym: "Mccabe disease" RELATED [OMIM:174810]
synonym: "osteolysis, familial expansile" RELATED [GARD:0009168]
synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810]
xref: GARD:0009168 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M89.5 {source="ORDO:85195/attributed", source="ORDO:85195/ntbt", source="Orphanet:85195"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536335 {source="MONDO:equivalentTo", source="ORDO:85195/e", source="MONDO:ontobio", source="Orphanet:85195"}
xref: OMIM:174810 {source="MONDO:equivalentTo", source="ORDO:85195/e", source="Orphanet:85195"}
xref: Orphanet:85195 {source="OMIM:174810", source="MONDO:equivalentTo"}
xref: SCTID:254153009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019707 {source="Orphanet:85195"} ! primary osteolysis
property_value: exactMatch http://identifiers.org/mesh/C536335
property_value: exactMatch http://identifiers.org/omim/174810
property_value: exactMatch http://identifiers.org/snomedct/254153009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432292
property_value: exactMatch Orphanet:85195

[Term]
id: MONDO:0008276
name: generalized juvenile polyposis/juvenile polyposis coli
subset: clingen
subset: ordo_clinical_subtype {source="Orphanet:329971"}
synonym: "jPS" RELATED [MONDO:Lexical, OMIM:174900]
synonym: "juvenile intestinal polyposis" RELATED [OMIM:174900]
synonym: "juvenile polyposis coli" RELATED [OMIM:174900]
synonym: "juvenile polyposis of stomach" RELATED [OMIM:174900]
synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900]
synonym: "juvenile polyposis syndrome; jPS" RELATED [OMIM:174900]
synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900]
synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900]
xref: DOID:0050787 {source="MONDO:equivalentTo"}
xref: ICD10:D12.6 {source="ORDO:329971/attributed", source="ORDO:329971/ntbt", source="Orphanet:329971"}
xref: OMIM:174900 {source="MONDO:equivalentTo", source="DOID:0050787", source="Orphanet:329971", source="ORDO:329971/e"}
xref: Orphanet:329971 {source="OMIM:174900", source="MONDO:equivalentTo"}
xref: UMLS:CN204230 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0050787", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0017380 {source="Orphanet:329971"} ! juvenile polyposis syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345893
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832940
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868081
property_value: exactMatch DOID:0050787
property_value: exactMatch http://identifiers.org/omim/174900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204230
property_value: exactMatch Orphanet:329971

[Term]
id: MONDO:0008277
name: stomach polyp
def: "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." [NCIT:C3954]
comment: Editor note: consider splitting polyposis from polyp
synonym: "gastric polyp" EXACT [NCIT:C3954]
synonym: "gastric Polyposa" EXACT [NCIT:C3954]
synonym: "gastric polyposis" RELATED [NCIT:C3954]
synonym: "polyps of stomach" EXACT [NCIT:C3954]
synonym: "polyps of the stomach" EXACT [NCIT:C3954]
xref: COHD:4303233 {source="MONDO:equivalentTo"}
xref: MESH:C562464 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3954 {source="MONDO:equivalentTo"}
xref: SCTID:87252009 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0004298 {source="MESH:C562464/inferred", source="MONDO:Redundant", source="NCIT:C3954", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! stomach disease
is_a: MONDO:0005079 ! polyp
property_value: exactMatch http://identifiers.org/mesh/C562464
property_value: exactMatch http://identifiers.org/snomedct/87252009
property_value: exactMatch NCIT:C3954

[Term]
id: MONDO:0008278
name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
synonym: "JP/Hht syndrome" RELATED [OMIM:175050]
synonym: "JPHT" RELATED [MONDO:Lexical, OMIM:175050]
synonym: "jPS/Hht" RELATED [OMIM:175050]
synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [OMIM:175050]
synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:175050]
synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JPHT" RELATED [OMIM:175050]
synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [OMIM:175050]
synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [OMIM:175050]
xref: MESH:C563412 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175050 {source="MONDO:equivalentTo"}
xref: UMLS:C1832942 {source="OMIM:175050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017380 {source="ORDO:2929/btnt"} ! juvenile polyposis syndrome
property_value: exactMatch http://identifiers.org/mesh/C563412
property_value: exactMatch http://identifiers.org/omim/175050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832942

[Term]
id: MONDO:0008279
name: obsolete familial adenomatous polyposis type 1
is_obsolete: true
replaced_by: MONDO:0021055

[Term]
id: MONDO:0008280
name: Peutz-Jeghers syndrome
def: "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." [Orphanet:2869]
subset: clingen
subset: gard_rare {source="GARD:0007378"}
subset: ordo_disease {source="Orphanet:2869"}
synonym: "colonic hamartomatous polyp" EXACT [DOID:3852, NCIT:C5519]
synonym: "gastric Peutz-Jeghers polyp" EXACT [DOID:3852]
synonym: "hamartomatous intestinal polyposis" EXACT [Orphanet:2869]
synonym: "Jeghers-Peutz syndrome" EXACT [NCIT:C3324]
synonym: "lentiginosis, perioral" RELATED [GARD:0007378]
synonym: "periorificial lentiginosis syndrome" RELATED [GARD:0007378]
synonym: "Peutz Jeghers colon polyp" EXACT [DOID:3852]
synonym: "Peutz Jeghers polyp" EXACT EXCLUDE [DOID:3852]
synonym: "Peutz Jeghers polyposis" RELATED [GARD:0007378]
synonym: "Peutz's syndrome" EXACT [NCIT:C3324]
synonym: "Peutz-Jeghers polyp of small intestine" EXACT [DOID:3852, NCIT:C7755]
synonym: "Peutz-Jeghers small bowel hamartoma" EXACT [DOID:3852]
synonym: "Peutz-Jeghers syndrome" EXACT [MONDO:Lexical, NCIT:C3324, OMIM:175200]
synonym: "Peutz-Jeghers syndrome; PJS" RELATED [OMIM:175200]
synonym: "PJS" EXACT [MONDO:Lexical, NCIT:C3324, OMIM:175200, Orphanet:2869]
synonym: "polyposis, hamartomatous intestinal" RELATED [OMIM:175200]
synonym: "polyps and spots syndrome" EXACT [Orphanet:2869]
synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200]
xref: DOID:3852 {source="MONDO:equivalentTo"}
xref: GARD:0007378 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="ORDO:2869/inclusion", source="ORDO:2869/ntbt", source="DOID:3852", source="Orphanet:2869"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10034764 {source="Orphanet:2869", source="ORDO:2869/e"}
xref: MESH:D010580 {source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869", source="MONDO:ontobio", source="ORDO:2869/e"}
xref: NCIT:C3324 {source="DOID:3852", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.86/1.98"}
xref: OMIM:175200 {source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869", source="ORDO:2869/e"}
xref: Orphanet:2869 {source="MONDO:equivalentTo", source="OMIM:175200"}
xref: SCTID:54411001 {source="DOID:3852", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0031269 {source="DOID:3852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2869", source="NCIT:C3324", source="OMIM:175200", source="ORDO:2869/e"}
xref: UMLS:C1333088 {source="DOID:3852", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015185 {source="Orphanet:2869", source="linkedlifedata"} ! intestinal polyposis syndrome
is_a: MONDO:0015945 {source="Orphanet:2869"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017128 {source="MONDO:Redundant", source="Orphanet:2869"} ! inherited digestive tract tumor
is_a: MONDO:0018188 {source="Orphanet:2869"} ! genetic intestinal polyposis
is_a: MONDO:0020063 {source="Orphanet:2869"} ! malformation syndrome with hamartosis
is_a: MONDO:0021118 ! intestinal neoplasm
relationship: disease_has_feature MONDO:0006365 {source="NCIT:C3324"} ! Peutz-Jeghers polyp
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:2869"} ! hyperpigmentation of the skin
relationship: disease_has_feature MONDO:0020178 {source="Orphanet:2869"} ! palpebral lentiginosis
relationship: disease_has_feature MONDO:0020203 {source="Orphanet:2869"} ! pigmented conjunctival lesion
property_value: closeMatch http://identifiers.org/snomedct/157029009
property_value: closeMatch http://identifiers.org/snomedct/277161008
property_value: closeMatch http://identifiers.org/snomedct/53633000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265323
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0456487
property_value: closeMatch NCIT:C7755
property_value: exactMatch DOID:3852
property_value: exactMatch http://identifiers.org/meddra/10034764
property_value: exactMatch http://identifiers.org/mesh/D010580
property_value: exactMatch http://identifiers.org/omim/175200
property_value: exactMatch http://identifiers.org/snomedct/54411001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333088
property_value: exactMatch NCIT:C3324
property_value: exactMatch Orphanet:2869
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome xsd:anyURI {source="GARD:0007378"}

[Term]
id: MONDO:0008281
name: polyposis, intestinal, scattered and discrete
synonym: "polyposis, intestinal, scattered and discrete" EXACT [OMIM:175400]
synonym: "polyps, scattered, discrete intestinal" RELATED [OMIM:175400]
xref: OMIM:175400 {source="MONDO:equivalentTo"}
xref: UMLS:C1868006 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175400"}
is_a: MONDO:0000147 {source="DC-OMIM:175400"} ! polyposis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/175400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868006

[Term]
id: MONDO:0008282
name: polyposis, intestinal, with multiple exostoses
synonym: "polyposis, intestinal, with multiple exostoses" EXACT [OMIM:175450]
xref: MESH:C566776 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175450"}
is_a: MONDO:0003847 {source="MESH:C566776/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566776
property_value: exactMatch http://identifiers.org/omim/175450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868005

[Term]
id: MONDO:0008283
name: Cronkhite-Canada syndrome
def: "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." [Orphanet:2930]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2930"}
synonym: "Cronkhite-Canada disease" RELATED [GARD:0004427]
synonym: "Cronkhite-Canada syndrome" EXACT [OMIM:175500]
synonym: "gastric Cronkhite Canada polyposis" EXACT [DOID:6225]
synonym: "gastrointestinal polyposis-ectodermal changes syndrome" EXACT [Orphanet:2930]
synonym: "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome" EXACT [Orphanet:2930]
synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD:0004427]
synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500]
xref: DOID:6225 {source="MONDO:equivalentTo"}
xref: GARD:0004427 {source="MONDO:equivalentTo"}
xref: ICD10:D12.6 {source="ORDO:2930/ntbt", source="Orphanet:2930"}
xref: MedDRA:10062907 {source="ORDO:2930/e", source="Orphanet:2930"}
xref: MESH:D044483 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7035 {source="MONDO:kboom-pr-1.00/0.91/26.77", source="DOID:6225", source="MONDO:equivalentTo"}
xref: OMIM:175500 {source="ORDO:2930/e", source="MONDO:equivalentTo", source="GARD:0004427", source="Orphanet:2930"}
xref: Orphanet:2930 {source="MONDO:equivalentTo", source="GARD:0004427", source="OMIM:175500"}
xref: SCTID:76304001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0282207 {source="ORDO:2930/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2930", source="OMIM:175500"}
is_a: MONDO:0004335 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2930/inferred"} ! digestive system disease
is_a: MONDO:0015185 {source="Orphanet:2930", source="linkedlifedata"} ! intestinal polyposis syndrome
is_a: MONDO:0019287 {source="Orphanet:2930"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0006224 {source="NCIT:C7035"} ! gastric hamartomatous polyp
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333764
property_value: exactMatch DOID:6225
property_value: exactMatch http://identifiers.org/meddra/10062907
property_value: exactMatch http://identifiers.org/mesh/D044483
property_value: exactMatch http://identifiers.org/omim/175500
property_value: exactMatch http://identifiers.org/snomedct/76304001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282207
property_value: exactMatch NCIT:C7035
property_value: exactMatch Orphanet:2930
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease xsd:anyURI {source="GARD:0004427"}

[Term]
id: MONDO:0008284
name: polyposis of gastric fundus without polyposis coli
synonym: "fundic gland polyposis" RELATED [OMIM:175505]
synonym: "polyposis of gastric fundus without polyposis coli" EXACT [OMIM:175505]
xref: MESH:C566775 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175505 {source="MONDO:equivalentTo"}
xref: UMLS:C1868001 {source="OMIM:175505", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000147 {source="DC-OMIM:175505"} ! polyposis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566775
property_value: exactMatch http://identifiers.org/omim/175505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868001

[Term]
id: MONDO:0008285
name: polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [OMIM:175510]
xref: MESH:C566774 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175510 {source="MONDO:equivalentTo"}
xref: UMLS:C1868000 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175510"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566774
property_value: exactMatch http://identifiers.org/omim/175510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868000

[Term]
id: MONDO:0008286
name: crossed polysyndactyly
def: "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." [Orphanet:2935]
subset: gard_rare {source="GARD:0001617"}
subset: ordo_malformation_syndrome {source="Orphanet:2935"}
synonym: "crossed polydactyly" EXACT [Orphanet:2935]
synonym: "polysyndactyly, crossed" RELATED [OMIM:175690]
xref: GARD:0001617 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.4 {source="ORDO:2935/attributed", source="ORDO:2935/ntbt", source="Orphanet:2935"}
xref: MESH:C566773 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175690 {source="MONDO:equivalentTo", source="Orphanet:2935", source="ORDO:2935/e"}
xref: Orphanet:2935 {source="OMIM:175690", source="MONDO:equivalentTo"}
xref: UMLS:C1867999 {source="OMIM:175690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2935", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017434 {source="Orphanet:2935"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C566773
property_value: exactMatch http://identifiers.org/omim/175690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867999
property_value: exactMatch Orphanet:2935
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly xsd:anyURI {source="GARD:0001617"}

[Term]
id: MONDO:0008287
name: Greig cephalopolysyndactyly syndrome
def: "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." [Orphanet:380]
subset: gard_rare {source="GARD:0006550"}
subset: ordo_malformation_syndrome {source="Orphanet:380"}
synonym: "GCPS" EXACT [MONDO:Lexical, OMIM:175700, Orphanet:380]
synonym: "Greig cephalopolysyndactyly syndrome" EXACT [MONDO:Lexical, OMIM:175700]
synonym: "Greig cephalopolysyndactyly syndrome; GCPS" RELATED [OMIM:175700]
synonym: "Greig cephalosyndactyly syndrome" EXACT [NCIT:C35255]
synonym: "Greig syndrome" RELATED [GARD:0006550]
synonym: "Greig's syndrome" EXACT [NCIT:C35255]
synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700]
synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761]
xref: DOID:14761 {source="MONDO:equivalentTo"}
xref: GARD:0006550 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:380/attributed", source="ORDO:380/ntbt", source="Orphanet:380"}
xref: MedDRA:10053878 {source="ORDO:380/e", source="Orphanet:380"}
xref: MESH:C537300 {source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="MONDO:ontobio"}
xref: NCIT:C35255 {source="MONDO:equivalentTo", source="DOID:14761", source="MONDO:kboom-pr-0.92/0.83/0.36"}
xref: OMIM:175700 {source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761"}
xref: Orphanet:380 {source="MONDO:equivalentTo", source="OMIM:175700"}
xref: SCTID:32985001 {source="MONDO:equivalentTo", source="DOID:14761", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265306 {source="NCBI:mim2gene_medline", source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="NCIT:C35255", source="DOID:14761", source="OMIM:175700"}
is_a: MONDO:0017434 {source="Orphanet:380"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
relationship: excluded_subClassOf MONDO:0019796 {source="DOID:14761"} ! acrocephalosyndactyly
property_value: exactMatch DOID:14761
property_value: exactMatch http://identifiers.org/meddra/10053878
property_value: exactMatch http://identifiers.org/mesh/C537300
property_value: exactMatch http://identifiers.org/omim/175700
property_value: exactMatch http://identifiers.org/snomedct/32985001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265306
property_value: exactMatch NCIT:C35255
property_value: exactMatch Orphanet:380
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome xsd:anyURI {source="GARD:0006550"}

[Term]
id: MONDO:0008288
name: popliteal cyst
def: "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." [MESH:D011151]
synonym: "baker cyst" RELATED [OMIM:175750]
synonym: "popliteal cyst" EXACT [OMIM:175750]
xref: ICD9:727.51 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011151 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175750 {source="MONDO:equivalentTo"}
xref: SCTID:82675004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032650
property_value: exactMatch http://identifiers.org/mesh/D011151
property_value: exactMatch http://identifiers.org/omim/175750
property_value: exactMatch http://identifiers.org/snomedct/82675004

[Term]
id: MONDO:0008289
name: brain small vessel disease 1 with or without ocular anomalies
def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:36383"}
synonym: "ADT1P" EXACT [OMIM:175780]
synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [] {comment="DOID:0090125"}
synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [DOID:0090125]
synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780, OMIM:607595]
synonym: "brain small vessel disease with hemorrhage" EXACT [DOID:0090125, OMIM:175780]
synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595]
synonym: "brain small vessel disease with or without ocular anomalies; BSVD" EXACT [OMIM:607595]
synonym: "BSVD" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595]
synonym: "BSVD1" EXACT [OMIM:175780]
synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [DOID:0090125, Orphanet:36383]
synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [OMIM:607595]
synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [DOID:0090125, Orphanet:36383]
synonym: "hemiplegia, infantile, with porencephaly" EXACT [OMIM:175780]
synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [OMIM:175780]
synonym: "infantile hemiparesis" EXACT [DOID:0090125, OMIM:607595]
synonym: "leukoencephalopathy with axenfeld-rieger anomaly" EXACT [DOID:0090125, OMIM:175780, OMIM:607595]
synonym: "POREN1" RELATED [MONDO:Lexical, OMIM:175780]
synonym: "porencephaly 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1089, MONDO:Lexical, OMIM:175780]
synonym: "porencephaly 1; POREN1" RELATED [OMIM:175780]
synonym: "porencephaly caused by mutation in COL4A1" EXACT [MONDO:design_pattern]
synonym: "porencephaly type 1" EXACT [MONDORULE:1, OMIM:175780]
synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780]
synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595]
synonym: "T1P" EXACT [OMIM:175780]
xref: DOID:0090125 {source="MONDO:equivalentTo"}
xref: ICD10:I67.3 {source="ORDO:36383/attributed", source="ORDO:36383/ntbt"}
xref: MESH:C531642 {source="ORDO:36383/e", source="MONDO:equivalentTo"}
xref: MESH:C564372 {source="MEDIC", source="MONDO:equivalentTo"}
xref: OMIM:175780 {source="MONDO:equivalentTo"}
xref: OMIM:607595 {source="MONDO:obsoleteEquivalent", source="ORDO:36383/e", source="Orphanet:36383", source="DOID:0090125"}
xref: Orphanet:36383 {source="MONDO:equivalentTo", source="DOID:0090125", source="OMIM:607595"}
xref: UMLS:CN032791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020496 {source="ORDO:99810/btnt"} ! familial porencephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843512
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675650
property_value: exactMatch DOID:0090125
property_value: exactMatch http://identifiers.org/mesh/C531642
property_value: exactMatch http://identifiers.org/mesh/C564372
property_value: exactMatch http://identifiers.org/omim/175780
property_value: exactMatch http://identifiers.org/omim/607595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032791
property_value: exactMatch Orphanet:36383

[Term]
id: MONDO:0008290
name: POROK1
synonym: "POROK1" EXACT [MONDO:Lexical, OMIM:175800]
synonym: "porokeratosis 1, MIBELLI type" RELATED [MONDO:Lexical, OMIM:175800]
synonym: "porokeratosis 1, MIBELLI type; POROK1" RELATED [OMIM:175800]
synonym: "porokeratosis 1, multiple types" RELATED [OMIM:175800]
synonym: "porokeratosis 1, multiple types; POROK1" RELATED [OMIM:175800]
synonym: "porokeratosis of Mibelli" RELATED [OMIM:175800]
xref: OMIM:175800 {source="MONDO:equivalentTo"}
is_a: MONDO:0019141 {source="MONDOLEX:0008290", source="ORDO:735/btnt"} ! porokeratosis of Mibelli
property_value: exactMatch http://identifiers.org/omim/175800

[Term]
id: MONDO:0008291
name: porokeratosis plantaris palmaris et disseminata
def: "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis (see this term) occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." [Orphanet:737]
subset: ordo_disease {source="Orphanet:737"}
synonym: "palmar, plantar and disseminated porokeratosis" EXACT [Orphanet:737]
synonym: "POROK2" RELATED [MONDO:Lexical, OMIM:175850]
synonym: "porokeratosis 2, palmar, plantar, and disseminated type" RELATED [MONDO:Lexical, OMIM:175850]
synonym: "porokeratosis 2, palmar, plantar, and disseminated type; POROK2" RELATED [OMIM:175850]
synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850]
synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850]
synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850]
synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850]
xref: ICD10:Q82.8 {source="ORDO:737/attributed", source="ORDO:737/ntbt", source="Orphanet:737"}
xref: OMIM:175850 {source="ORDO:737/e", source="MONDO:equivalentTo", source="Orphanet:737"}
xref: Orphanet:737 {source="MONDO:equivalentTo", source="OMIM:175850"}
xref: SCTID:718218005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006602 {source="DC-OMIM:175850", source="MONDOLEX:0008291", source="OMIM:175850", source="Orphanet:737", source="linkedlifedata"} ! porokeratosis (disease)
is_a: MONDO:0016518 {source="Orphanet:737"} ! isolated punctate palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162838
property_value: exactMatch http://identifiers.org/omim/175850
property_value: exactMatch http://identifiers.org/snomedct/718218005
property_value: exactMatch Orphanet:737

[Term]
id: MONDO:0008292
name: punctate palmoplantar keratoderma type 2
def: "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." [Orphanet:79502]
subset: ordo_disease {source="Orphanet:79502"}
synonym: "keratoderma palmoplantar, punctate type 2" RELATED [GARD:0004439]
synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical, OMIM:175860]
synonym: "palmoplantar keratoderma, punctate type II; PPKP2" RELATED [OMIM:175860]
synonym: "porokeratosis punctata palmaris Et plantaris" RELATED [OMIM:175860]
synonym: "PPKP2" EXACT [MONDO:Lexical, OMIM:175860, Orphanet:79502]
synonym: "PPPP" EXACT [Orphanet:79502]
synonym: "punctate palmoplantar hyperkeratosis type 2" EXACT [Orphanet:79502]
synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213]
synonym: "type 2 punctate PPK" RELATED [GARD:0004439]
xref: DOID:0080213 {source="MONDO:equivalentTo"}
xref: GARD:0004439 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.8 {source="Orphanet:79502", source="ORDO:79502/attributed", source="ORDO:79502/ntbt"}
xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="ORDO:79502/e"}
xref: Orphanet:79502 {source="MONDO:equivalentTo", source="OMIM:175860"}
xref: SCTID:765096001 {source="MONDO:equivalentTo"}
xref: UMLS:C1867982 {source="Orphanet:79502", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175860", source="ORDO:79502/e"}
is_a: MONDO:0016518 {source="Orphanet:79502"} ! isolated punctate palmoplantar keratoderma
property_value: exactMatch DOID:0080213
property_value: exactMatch http://identifiers.org/omim/175860
property_value: exactMatch http://identifiers.org/snomedct/765096001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867982
property_value: exactMatch Orphanet:79502

[Term]
id: MONDO:0008293
name: porokeratosis 3, disseminated superficial actinic type
synonym: "Dsap" RELATED [OMIM:175900]
synonym: "DSAP1" RELATED [GARD:0009505]
synonym: "POROK3" RELATED [MONDO:Lexical, OMIM:175900]
synonym: "porokeratosis 3, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:175900]
synonym: "porokeratosis 3, disseminated superficial actinic type; POROK3" RELATED [OMIM:175900]
synonym: "porokeratosis 3, multiple types" RELATED [OMIM:175900]
synonym: "porokeratosis 3, multiple types; POROK3" RELATED [OMIM:175900]
synonym: "porokeratosis, disseminated superficial actinic 1" RELATED [GARD:0009505]
synonym: "porokeratosis, disseminated superficial actinic, 1" RELATED [OMIM:175900]
xref: GARD:0009505 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536339 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:175900 {source="MONDO:equivalentTo"}
is_a: MONDO:0019141 {source="ORDO:735/btnt"} ! porokeratosis of Mibelli
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867981
property_value: exactMatch http://identifiers.org/mesh/C536339
property_value: exactMatch http://identifiers.org/omim/175900

[Term]
id: MONDO:0008294
name: acute intermittent porphyria
def: "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." [Orphanet:79276]
subset: ordo_disease {source="Orphanet:79276"}
synonym: "AIP" RELATED [MONDO:Lexical, OMIM:176000]
synonym: "AIP - acute intermittent porphyria" EXACT [DOID:3890]
synonym: "HMBS deficiency" RELATED [GARD:0005732]
synonym: "hydroxymethylbilane synthase deficiency" RELATED [GARD:0005732]
synonym: "PBGD deficiency" RELATED [OMIM:176000]
synonym: "porphobilinogen deaminase deficiency" RELATED [OMIM:176000]
synonym: "porphyria intermittent acute" EXACT [CSP2005:1849-7674, DOID:3890]
synonym: "porphyria, acute intermittent" RELATED [MONDO:Lexical, OMIM:176000]
synonym: "porphyria, acute intermittent, Nonerythroid variant" RELATED [OMIM:176000]
synonym: "porphyria, acute intermittent; AIP" RELATED [OMIM:176000]
synonym: "porphyria, Chester type" RELATED [OMIM:176000]
synonym: "porphyria, Swedish type" RELATED [OMIM:176000]
synonym: "pyrroloporphyria" EXACT [DOID:3890, MTHICD9_2006:277.1]
synonym: "UPS deficiency" RELATED [OMIM:176000]
synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000]
xref: DOID:3890 {source="MONDO:equivalentTo"}
xref: GARD:0005732 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E80.2 {source="ORDO:79276/attributed", source="ORDO:79276/ntbt", source="Orphanet:79276"}
xref: MESH:D017118 {source="MONDO:equivalentTo", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"}
xref: NCIT:C84536 {source="MONDO:kboom-pr-0.90/0.79/0.12", source="MONDO:equivalentTo", source="DOID:3890"}
xref: OMIM:176000 {source="MONDO:equivalentTo", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"}
xref: Orphanet:79276 {source="MONDO:equivalentTo", source="OMIM:176000"}
xref: SCTID:234422006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.67/0.28/0.20", source="DOID:3890"}
xref: UMLS:C0162565 {source="NCIT:C84536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176000", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"}
is_a: MONDO:0002520 {source="DOID:3890", source="MESH:D017118", source="Orphanet:79276"} ! acute hepatic porphyria
is_a: MONDO:0019142 {source="DOID:3890/inferred", source="MESH:D017118/inferred", source="MONDO:Redundant", source="MONDOLEX:0008294", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria
property_value: closeMatch http://identifiers.org/snomedct/190914003
property_value: closeMatch http://identifiers.org/snomedct/90842001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268322
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867969
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936779
property_value: exactMatch DOID:3890
property_value: exactMatch http://identifiers.org/mesh/D017118
property_value: exactMatch http://identifiers.org/omim/176000
property_value: exactMatch http://identifiers.org/snomedct/234422006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162565
property_value: exactMatch NCIT:C84536
property_value: exactMatch Orphanet:79276

[Term]
id: MONDO:0008295
name: sporadic porphyria cutanea tarda
def: "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial
subset: ordo_clinical_subtype {source="Orphanet:443057"}
synonym: "acquired porphyria cutanea tarda" EXACT [MONDO:patterns/acquired]
synonym: "PCT, 'sporadic' type" RELATED [OMIM:176090]
synonym: "PCT, type 1" RELATED [OMIM:176090]
synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057]
synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090]
synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090]
xref: ICD10:E80.1 {source="Orphanet:443057", source="ORDO:443057/attributed", source="ORDO:443057/ntbt"}
xref: MESH:C566768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176090 {source="Orphanet:443057", source="ORDO:443057/e", source="MONDO:equivalentTo"}
xref: Orphanet:443057 {source="MONDO:equivalentTo"}
xref: SCTID:402479002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1276127 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1867968 {source="Orphanet:443057", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176090"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0015104 {source="MESH:C566768", source="MONDO:Redundant", source="Orphanet:443057", source="linkedlifedata"} ! porphyria cutanea tarda
intersection_of: MONDO:0015104 ! porphyria cutanea tarda
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C566768
property_value: exactMatch http://identifiers.org/omim/176090
property_value: exactMatch http://identifiers.org/snomedct/402479002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867968
property_value: exactMatch Orphanet:443057

[Term]
id: MONDO:0008296
name: familial porphyria cutanea tarda
def: "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial
subset: ordo_clinical_subtype {source="Orphanet:443062"}
synonym: "hereditary porphyria cutanea tarda" EXACT [MONDO:patterns/hereditary]
synonym: "PCT" RELATED [OMIM:176100]
synonym: "PCT, 'familial' type" RELATED [OMIM:176100]
synonym: "PCT, type 2" RELATED [OMIM:176100]
synonym: "porphyria cutanea tarda" RELATED [OMIM:176100]
synonym: "porphyria cutanea tarda type II" EXACT [Orphanet:443062]
synonym: "porphyria cutanea tarda, type 2" RELATED [OMIM:176100]
synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100]
synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100]
synonym: "Urod deficiency" RELATED [OMIM:176100]
synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100]
xref: ICD10:E80.1 {source="ORDO:443062/attributed", source="ORDO:443062/ntbt", source="Orphanet:443062"}
xref: OMIM:176100 {source="MONDO:equivalentTo", source="Orphanet:443062", source="ORDO:443062/e"}
xref: Orphanet:443062 {source="MONDO:equivalentTo"}
xref: SCTID:59229005 {source="MONDO:kboom-pr-0.82/0.64/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C0268323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015104 {source="MONDO:Redundant", source="Orphanet:443062", source="linkedlifedata"} ! porphyria cutanea tarda
is_a: MONDO:0019142 ! inherited porphyria
intersection_of: MONDO:0015104 ! porphyria cutanea tarda
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1421374
property_value: exactMatch http://identifiers.org/omim/176100
property_value: exactMatch http://identifiers.org/snomedct/59229005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268323
property_value: exactMatch Orphanet:443062

[Term]
id: MONDO:0008297
name: variegate porphyria
def: "Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." [Orphanet:79473]
subset: gard_rare {source="GARD:0007848"}
subset: ordo_disease {source="Orphanet:79473"}
synonym: "porphyria variegata" RELATED [OMIM:176200]
synonym: "porphyria variegate" RELATED [GARD:0007848]
synonym: "porphyria, South African type" RELATED [OMIM:176200]
synonym: "PPOX deficiency" RELATED [OMIM:176200]
synonym: "Protocoproporphyria" EXACT [DOID:4346, MTHICD9_2006:277.1]
synonym: "protoporphyrinogen oxidase deficiency" EXACT [DOID:4346, OMIM:176200, Orphanet:79473]
synonym: "variegate porphyria" EXACT [OMIM:176200, Orphanet:79473]
synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200]
synonym: "VP" RELATED [GARD:0007848]
xref: DOID:4346 {source="MONDO:equivalentTo"}
xref: GARD:0007848 {source="MONDO:equivalentTo"}
xref: ICD10:E80.2 {source="ORDO:79473/attributed", source="ORDO:79473/ntbt", source="Orphanet:79473"}
xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"}
xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:176200 {source="DOID:4346", source="MONDO:equivalentTo", source="ORDO:79473/e", source="Orphanet:79473"}
xref: Orphanet:79473 {source="MONDO:equivalentTo", source="OMIM:176200"}
xref: SCTID:58275005 {source="DOID:4346", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0162532 {source="NCIT:C85219", source="DOID:4346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176200", source="Orphanet:79473"}
is_a: MONDO:0002520 {source="DOID:4346", source="MESH:D046350", source="Orphanet:79473", source="linkedlifedata"} ! acute hepatic porphyria
is_a: MONDO:0019142 {source="DOID:4346/inferred", source="MESH:D046350/inferred", source="MONDO:Redundant", source="MONDOLEX:0008297", source="NCIT:C85219", source="Orphanet:79473/inferred"} ! inherited porphyria
property_value: closeMatch http://identifiers.org/snomedct/276264004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936913
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149848
property_value: exactMatch DOID:4346
property_value: exactMatch http://identifiers.org/mesh/D046350
property_value: exactMatch http://identifiers.org/omim/176200
property_value: exactMatch http://identifiers.org/snomedct/58275005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162532
property_value: exactMatch NCIT:C85219
property_value: exactMatch Orphanet:79473
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria xsd:anyURI {source="GARD:0007848"}

[Term]
id: MONDO:0008298
name: postaxial tetramelic oligodactyly
def: "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." [Orphanet:2730]
subset: gard_rare {source="GARD:0004065"}
subset: ordo_malformation_syndrome {source="Orphanet:2730"}
synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065]
synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240]
xref: GARD:0004065 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:2730", source="ORDO:2730/attributed", source="ORDO:2730/ntbt"}
xref: MESH:C566767 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176240 {source="ORDO:2730/e", source="Orphanet:2730", source="MONDO:equivalentTo"}
xref: Orphanet:2730 {source="OMIM:176240", source="MONDO:equivalentTo"}
xref: UMLS:C1867924 {source="OMIM:176240", source="NCBI:mim2gene_medline", source="Orphanet:2730", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:2730"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2730", source="Orphanet:2730/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C566767
property_value: exactMatch http://identifiers.org/omim/176240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867924
property_value: exactMatch Orphanet:2730
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial xsd:anyURI {source="GARD:0004065"}

[Term]
id: MONDO:0008299
name: posterior column ataxia
subset: gard_rare {source="GARD:0010044"}
synonym: "Biemond ataxia" RELATED [OMIM:176250]
synonym: "posterior column ataxia" EXACT [OMIM:176250]
xref: GARD:0010044 {source="MONDO:equivalentTo"}
xref: MESH:C536342 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176250 {source="MONDO:equivalentTo"}
xref: UMLS:C1867923 {source="NCBI:mim2gene_medline", source="OMIM:176250", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C536342/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536342
property_value: exactMatch http://identifiers.org/omim/176250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867923
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia xsd:anyURI {source="GARD:0010044"}

[Term]
id: MONDO:0008300
name: Prader-Willi syndrome
def: "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." [Orphanet:739]
subset: gard_rare {source="GARD:0005575"}
subset: ordo_disease {source="Orphanet:739"}
synonym: "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED [GARD:0005575]
synonym: "Prader Willi syndrome" EXACT [CSP2005:1849-7731, DOID:11983]
synonym: "Prader-Labhart-Willi syndrome" EXACT [OMIM:176270, Orphanet:739]
synonym: "Prader-Willi syndrome" EXACT [MONDO:Lexical, OMIM:176270]
synonym: "Prader-Willi syndrome chromosome region" RELATED [OMIM:176270]
synonym: "Prader-Willi syndrome; PWS" RELATED [OMIM:176270]
synonym: "Prader-Willi-Labhart syndrome" EXACT [NCIT:C75463]
synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [OMIM:176270]
synonym: "PWS" RELATED [MONDO:Lexical, OMIM:176270]
synonym: "Willi-Prader syndrome" EXACT [Orphanet:739]
xref: COHD:441963 {source="MONDO:equivalentTo"}
xref: DOID:11983 {source="MONDO:equivalentTo"}
xref: GARD:0005575 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:739/ntbt", source="Orphanet:739", source="ORDO:739/inclusion", source="DOID:11983"}
xref: ICD9:759.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:11983"}
xref: MedDRA:10036476 {source="ORDO:739/e", source="Orphanet:739"}
xref: MESH:D011218 {source="MONDO:equivalentTo", source="ORDO:739/e", source="Orphanet:739", source="DOID:11983"}
xref: NCIT:C75463 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11983"}
xref: OMIM:176270 {source="MONDO:equivalentTo", source="ORDO:739/e", source="Orphanet:739", source="DOID:11983"}
xref: Orphanet:739 {source="OMIM:176270", source="MONDO:equivalentTo"}
xref: SCTID:89392001 {source="MONDO:equivalentTo", source="DOID:11983", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032897 {source="OMIM:176270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:739/e", source="NCIT:C75463", source="Orphanet:739", source="DOID:11983"}
is_a: MONDO:0015890 {source="Orphanet:739"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0016565 {source="Orphanet:739"} ! syndromic genetic obesity
is_a: MONDO:0018398 {source="Orphanet:739"} ! female infertility due to a congenital hypogonadotropic hypogonadism
is_a: MONDO:0019040 {source="DOID:11983", source="MESH:D011218", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly
is_a: MONDO:0020016 {source="Orphanet:739"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:739"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X", source="indirect"} ! complex neurodevelopmental disorder
property_value: closeMatch http://identifiers.org/snomedct/205794007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867858
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867859
property_value: exactMatch DOID:11983
property_value: exactMatch http://identifiers.org/meddra/10036476
property_value: exactMatch http://identifiers.org/mesh/D011218
property_value: exactMatch http://identifiers.org/omim/176270
property_value: exactMatch http://identifiers.org/snomedct/89392001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032897
property_value: exactMatch NCIT:C75463
property_value: exactMatch Orphanet:739
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome xsd:anyURI {source="GARD:0005575"}

[Term]
id: MONDO:0008301
name: Guttmacher syndrome
def: "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." [Orphanet:2957]
subset: ordo_malformation_syndrome {source="Orphanet:2957"}
synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [GARD:0004470]
synonym: "Guttmacher syndrome" EXACT [OMIM:176305]
synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" RELATED [GARD:0004470]
synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [OMIM:176305]
synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957]
xref: GARD:0004470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="ORDO:2957/attributed", source="ORDO:2957/ntbt", source="Orphanet:2957"}
xref: MESH:C538278 {source="MONDO:equivalentTo", source="Orphanet:2957", source="MONDO:ontobio", source="ORDO:2957/e"}
xref: OMIM:176305 {source="MONDO:equivalentTo", source="Orphanet:2957", source="ORDO:2957/e"}
xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"}
xref: SCTID:722452004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1867801 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2957", source="ORDO:2957/e", source="OMIM:176305"}
is_a: MONDO:0015620 {source="Orphanet:2957"} ! syndromic urogenital tract malformation
is_a: MONDO:0017434 {source="Orphanet:2957"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C538278
property_value: exactMatch http://identifiers.org/omim/176305
property_value: exactMatch http://identifiers.org/snomedct/722452004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867801
property_value: exactMatch Orphanet:2957

[Term]
id: MONDO:0008302
name: centra precocious puberty 1
def: "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene]
synonym: "central precocious puberty caused by mutation in KISS1R" EXACT [MONDO:design_pattern]
synonym: "CPPB1" RELATED [MONDO:Lexical, OMIM:176400]
synonym: "KISS1R central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precocious puberty, central, 1" EXACT [MONDO:Lexical, OMIM:176400]
synonym: "precocious puberty, central, 1; CPPB1" RELATED [OMIM:176400]
synonym: "precocious puberty, central, type 1" EXACT [MONDORULE:1, OMIM:176400]
xref: OMIM:176400 {source="MONDO:equivalentTo"}
xref: UMLS:C3805879 {source="MONDO:equivalentTo", source="OMIM:176400"}
is_a: MONDO:0019165 {source="MONDO:Redundant", source="MONDOLEX:0008302", source="ORDO:759/btnt"} ! central precocious puberty
property_value: exactMatch http://identifiers.org/omim/176400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805879

[Term]
id: MONDO:0008303
name: familial male-limited precocious puberty
def: "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." [Orphanet:3000]
subset: ordo_disease {source="Orphanet:3000"}
synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [Orphanet:3000]
synonym: "familial Testotoxicosis (subtype)" RELATED [GARD:0004475]
synonym: "FMPP" EXACT [Orphanet:3000]
synonym: "Leydig cell adenoma, somatic, with male-limited precocious puberty" RELATED [OMIM:176410]
synonym: "LHCGR peripheral precocious puberty" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "male-limited precocious puberty" EXACT [Orphanet:3000]
synonym: "peripheral precocious puberty caused by mutation in LHCGR" EXACT []
synonym: "precocious puberty, male limited" RELATED [GARD:0004475]
synonym: "precocious puberty, male-limited" RELATED [OMIM:176410]
synonym: "pubertas praecox" BROAD [GARD:0004475]
synonym: "sexual precocity, familial, gonadotropin-independent" RELATED [OMIM:176410]
synonym: "testotoxicosis" EXACT [GARD:0004475, Orphanet:3000]
synonym: "testotoxicosis, familial" EXACT [OMIM:176410]
xref: GARD:0004475 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E30.1 {source="MONDO:subClassOf", source="ORDO:3000/attributed", source="ORDO:3000/ntbt", source="Orphanet:3000"}
xref: MedDRA:10063654 {source="Orphanet:3000", source="ORDO:3000/e"}
xref: MedDRA:10063656 {source="Orphanet:3000", source="ORDO:3000/e"}
xref: OMIM:176410 {source="MONDO:equivalentTo", source="Orphanet:3000", source="ORDO:3000/e"}
xref: Orphanet:3000 {source="MONDO:equivalentTo", source="OMIM:176410"}
xref: SCTID:237818003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C1504412 {source="MONDO:equivalentTo", source="Orphanet:3000", source="MEDGEN:kboom-pr87-c94", source="ORDO:3000/e"}
is_a: MONDO:0015791 {source="Orphanet:3000"} ! peripheral precocious puberty
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674612
property_value: exactMatch http://identifiers.org/meddra/10063654
property_value: exactMatch http://identifiers.org/meddra/10063656
property_value: exactMatch http://identifiers.org/mesh/C536961
property_value: exactMatch http://identifiers.org/omim/176410
property_value: exactMatch http://identifiers.org/snomedct/237818003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1504412
property_value: exactMatch Orphanet:3000

[Term]
id: MONDO:0008304
name: premature chromatid separation trait
synonym: "PCS" RELATED [MONDO:Lexical, OMIM:176430]
synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430]
synonym: "premature chromatid separation trait; PCS" RELATED [OMIM:176430]
synonym: "total premature chromatid separation trait" RELATED [OMIM:176430]
xref: EFO:0009077 {source="MONDO:equivalentTo"}
xref: OMIM:176430 {source="MONDO:equivalentTo"}
xref: UMLS:C1864389 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176430"}
is_a: MONDO:0003847 {source="EFO:0009077"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/176430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864389

[Term]
id: MONDO:0008305
name: Currarino triad
def: "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." [Orphanet:1552]
subset: ordo_malformation_syndrome {source="Orphanet:1552"}
synonym: "CURRARINO syndrome" RELATED [OMIM:176450]
synonym: "Currarino syndrome" EXACT [Orphanet:1552]
synonym: "Currarino triad" EXACT [OMIM:176450]
synonym: "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation" RELATED [GARD:0001626]
synonym: "sacral agenesis syndrome" RELATED [OMIM:176450]
synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [OMIM:176450]
synonym: "Scra1" RELATED [OMIM:176450]
xref: GARD:0001626 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1552", source="ORDO:1552/attributed", source="ORDO:1552/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536221 {source="Orphanet:1552", source="ORDO:1552/e", source="MONDO:equivalentTo"}
xref: OMIM:176450 {source="Orphanet:1552", source="ORDO:1552/e", source="MONDO:equivalentTo"}
xref: Orphanet:1552 {source="MONDO:equivalentTo", source="OMIM:176450"}
xref: SCTID:413936007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1531773 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1552", source="ORDO:1552/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176450"}
is_a: MONDO:0015246 {source="Orphanet:1552"} ! syndromic anorectal malformation
is_a: MONDO:0015846 {source="Orphanet:1552"} ! syndromic uterovaginal malformation
is_a: MONDO:0019711 {source="Orphanet:1552"} ! dysostosis with predominant vertebral and costal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415596
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867775
property_value: exactMatch http://identifiers.org/mesh/C536221
property_value: exactMatch http://identifiers.org/omim/176450
property_value: exactMatch http://identifiers.org/snomedct/413936007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1531773
property_value: exactMatch Orphanet:1552

[Term]
id: MONDO:0008306
name: ABri amyloidosis
def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070029]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:97345"}
synonym: "ABri amyloidosis" EXACT [GARD:0008344]
synonym: "Bri amyloidosis" RELATED [GARD:0008344]
synonym: "cerebral amyloid angiopathy, British type" EXACT [DOID:0070029]
synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 1" RELATED [OMIM:176500]
synonym: "cerebral amyloid angiopathy, ITM2B-related, type 1" EXACT [MONDORULE:1, OMIM:176500]
synonym: "dementia familial British" RELATED [GARD:0008344]
synonym: "dementia, familial British" RELATED [OMIM:176500]
synonym: "familial British dementia" EXACT [DOID:0070029]
synonym: "familial dementia, British type" EXACT [Orphanet:97345]
synonym: "FBD" EXACT [DOID:0070029, GARD:0008344]
synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029]
synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500]
xref: DOID:0070029 {source="MONDO:equivalentTo"}
xref: GARD:0008344 {source="MONDO:equivalentTo"}
xref: ICD10:E85.4+ {source="Orphanet:97345", source="ORDO:97345/attributed", source="ORDO:97345/ntbt"}
xref: ICD10:I68.0* {source="Orphanet:97345", source="ORDO:97345/attributed", source="ORDO:97345/ntbt"}
xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:97345/e"}
xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="GARD:0008344", source="ORDO:97345/e"}
xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500"}
xref: UMLS:C1867773 {source="Orphanet:97345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="GARD:0008344", source="OMIM:176500", source="ORDO:97345/e"}
is_a: MONDO:0005620 {source="DC-OMIM:176500", source="DOID:0070029", source="MESH:C538208/inferred"} ! cerebral amyloid angiopathy
is_a: MONDO:0018591 {source="Orphanet:97345"} ! ITM2B amyloidosis
property_value: exactMatch DOID:0070029
property_value: exactMatch http://identifiers.org/mesh/C538208
property_value: exactMatch http://identifiers.org/omim/176500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867773
property_value: exactMatch Orphanet:97345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british xsd:anyURI {source="GARD:0008344"}

[Term]
id: MONDO:0008307
name: presenile dementia, Kraepelin type
subset: gard_rare {source="GARD:0010032"}
synonym: "catatonia of Kraepelin" RELATED [GARD:0010032]
synonym: "Kraepelin disease" RELATED [GARD:0010032]
synonym: "presenile dementia, Kraepelin type" EXACT [OMIM:176600]
xref: GARD:0010032 {source="MONDO:equivalentTo"}
xref: MESH:C535273 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176600 {source="MONDO:equivalentTo"}
xref: UMLS:C1867772 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535273
property_value: exactMatch http://identifiers.org/omim/176600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867772
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type xsd:anyURI {source="GARD:0010032"}

[Term]
id: MONDO:0008308
name: priapism, familial idiopathic
synonym: "familial idiopathic priapism" RELATED [GARD:0010016]
synonym: "priapism, familial idiopathic" EXACT [OMIM:176620]
xref: GARD:0010016 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C531791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176620 {source="MONDO:equivalentTo"}
xref: UMLS:C1867771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176620"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C531791
property_value: exactMatch http://identifiers.org/omim/176620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867771

[Term]
id: MONDO:0008309
name: primary release disorder of platelets
subset: gard_rare {source="GARD:0010357"}
synonym: "bleeding disorder due to primary defects in platelet release mechanism" RELATED [GARD:0010357]
synonym: "primary release disorder of platelets" EXACT [OMIM:176630]
xref: GARD:0010357 {source="MONDO:equivalentTo"}
xref: MESH:C566759 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176630 {source="MONDO:equivalentTo"}
xref: UMLS:C1867770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176630"}
is_a: MONDO:0000009 {source="MONDO:cjm"} ! inherited bleeding disorder, platelet-type
property_value: exactMatch http://identifiers.org/mesh/C566759
property_value: exactMatch http://identifiers.org/omim/176630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867770
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets xsd:anyURI {source="GARD:0010357"}

[Term]
id: MONDO:0008310
name: Hutchinson-Gilford progeria syndrome
def: "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." [Orphanet:740]
subset: clingen
subset: gard_rare {source="GARD:0007467"}
subset: ordo_disease {source="Orphanet:740"}
subset: prototype_pattern {notes="check this"}
synonym: "HGPS" EXACT [DOID:3911, MONDO:Lexical, OMIM:176670, Orphanet:740]
synonym: "Hutchinson Gilford progeria syndrome" RELATED [GARD:0007467]
synonym: "Hutchinson Gilford syndrome" EXACT [CSP2005:0071-4237, DOID:3911]
synonym: "Hutchinson-Gilford disease" EXACT [DOID:3911, NCIT:C34951]
synonym: "Hutchinson-Gilford progeria syndrome" EXACT [DOID:3911]
synonym: "Hutchinson-Gilford progeria syndrome" RELATED [MONDO:Lexical, OMIM:176670]
synonym: "Hutchinson-Gilford progeria syndrome; HGPS" RELATED [OMIM:176670]
synonym: "premature senility syndrome" EXACT [NCIT:C34951]
synonym: "progeria" BROAD [OMIM:176670, Orphanet:740]
synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670]
xref: DOID:3911 {source="MONDO:equivalentTo"}
xref: GARD:0007467 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="ORDO:740/inclusion", source="DOID:3911", source="ORDO:740/ntbt", source="Orphanet:740"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036794 {source="ORDO:740/e", source="Orphanet:740"}
xref: MESH:D011371 {source="MONDO:equivalentTo", source="DOID:3911", source="ORDO:740/e", source="Orphanet:740"}
xref: NCIT:C34951 {source="MONDO:equivalentTo", source="DOID:3911", source="MONDO:kboom-pr-1.00/0.91/28.20"}
xref: OMIM:176670 {source="MONDO:equivalentTo", source="DOID:3911", source="ORDO:740/e", source="Orphanet:740"}
xref: Orphanet:740 {source="MONDO:equivalentTo", source="OMIM:176670"}
xref: SCTID:238870004 {source="MONDO:equivalentTo", source="DOID:3911", source="MONDO:kboom-pr-1.00/0.74/6.16"}
xref: UMLS:C0033300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176670", source="DOID:3911", source="NCIT:C34951", source="ORDO:740/e", source="Orphanet:740"}
xref: UMLS:CN236401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0008310", source="NCIT:C34951"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:3911", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015331 {source="Orphanet:740"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019707 {source="Orphanet:740"} ! primary osteolysis
is_a: MONDO:0020732 {source="OMIMPS"} ! progeria
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/190590004
property_value: closeMatch http://identifiers.org/snomedct/238869000
property_value: closeMatch http://identifiers.org/snomedct/46238000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750285
property_value: exactMatch DOID:3911
property_value: exactMatch http://identifiers.org/meddra/10036794
property_value: exactMatch http://identifiers.org/mesh/D011371
property_value: exactMatch http://identifiers.org/omim/176670
property_value: exactMatch http://identifiers.org/snomedct/238870004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236401
property_value: exactMatch NCIT:C34951
property_value: exactMatch Orphanet:740
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7467/progeria xsd:anyURI {source="GARD:0007467"}

[Term]
id: MONDO:0008311
name: progeria-short stature-pigmented nevi syndrome
def: "Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." [Orphanet:2959]
subset: ordo_malformation_syndrome {source="Orphanet:2959"}
synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959]
synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690]
xref: GARD:0004494 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536422 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2959", source="ORDO:2959/e"}
xref: OMIM:176690 {source="MONDO:equivalentTo", source="Orphanet:2959", source="ORDO:2959/e"}
xref: Orphanet:2959 {source="OMIM:176690", source="MONDO:equivalentTo"}
xref: SCTID:399947002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20"}
xref: UMLS:C1261128 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:176690", source="MONDO:equivalentTo", source="Orphanet:2959", source="ORDO:2959/e"}
is_a: MONDO:0015331 {source="Orphanet:2959"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:2959"} ! progeroid syndrome
property_value: exactMatch http://identifiers.org/mesh/C536422
property_value: exactMatch http://identifiers.org/omim/176690
property_value: exactMatch http://identifiers.org/snomedct/399947002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261128
property_value: exactMatch Orphanet:2959

[Term]
id: MONDO:0008312
name: autosomal dominant prognathism
def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313]
subset: ordo_malformation_syndrome {source="Orphanet:2964"}
synonym: "'Habsburg jaw'" RELATED [OMIM:176700]
synonym: "'Hapsburg jaw'" RELATED [OMIM:176700]
synonym: "Habsburg jaw" RELATED [GARD:0010319]
synonym: "Hapsburg jaw" RELATED [GARD:0010319]
synonym: "prognathism mandibular" RELATED [GARD:0010319]
synonym: "prognathism, mandibular" RELATED [OMIM:176700]
xref: GARD:0010319 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K07.1 {source="ORDO:2964/attributed", source="ORDO:2964/ntbt", source="Orphanet:2964"}
xref: MESH:D008313 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="ORDO:2964/e"}
xref: Orphanet:2964 {source="MONDO:equivalentTo", source="OMIM:176700"}
xref: UMLS:CN203311 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0043008 {source="Orphanet:2964"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266075
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399526
property_value: exactMatch http://identifiers.org/mesh/D008313
property_value: exactMatch http://identifiers.org/omim/176700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203311
property_value: exactMatch Orphanet:2964

[Term]
id: MONDO:0008313
name: pelvic organ prolapse, susceptibility to
subset: predisposition
synonym: "pelvic organ prolapse, susceptibility to" EXACT [OMIM:176780]
synonym: "pelvic organ prolapse, susceptibility to, 1" RELATED [OMIM:176780]
synonym: "prolapse of vagina and rectum" RELATED [OMIM:176780]
synonym: "rectal prolapse" RELATED [OMIM:176780]
synonym: "vaginal prolapse" RELATED [OMIM:176780]
xref: OMIM:176780 {source="MONDO:equivalentTo"}
is_a: MONDO:0000082 {source="DC-OMIM:176780"} ! pelvic organ prolapse
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205990
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868686
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750283
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752090
property_value: exactMatch http://identifiers.org/omim/176780

[Term]
id: MONDO:0008314
name: pronation-supination of the forearm, impairment of
synonym: "pronation-supination of the forearm, impairment of" EXACT [OMIM:176800]
xref: MESH:C566757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:176800 {source="MONDO:equivalentTo"}
xref: UMLS:C1867726 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566757
property_value: exactMatch http://identifiers.org/omim/176800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867726

[Term]
id: MONDO:0008315
name: prostate cancer
def: "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." [NCIT:C7378]
subset: ordo_disease {source="Orphanet:1331"}
synonym: "cancer of prostate gland" EXACT [MONDO:patterns/cancer]
synonym: "hereditary prostate cancer" NARROW [DOID:10283]
synonym: "malignant neoplasm of prostate" EXACT [NCIT:C7378]
synonym: "malignant neoplasm of prostate gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the prostate" EXACT [NCIT:C7378]
synonym: "malignant prostate gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant prostate neoplasm" EXACT [NCIT:C7378]
synonym: "malignant prostate tumor" EXACT [NCIT:C7378]
synonym: "malignant tumor of prostate" EXACT [NCIT:C7378]
synonym: "malignant tumor of the prostate" EXACT [DOID:10283, NCIT:C7378]
synonym: "NGP - new growth of prostate" EXACT [DOID:10283]
synonym: "prostate cancer" EXACT [OMIM:176807]
synonym: "prostate cancer, familial" EXACT [DOID:10283, MESH:C537243]
synonym: "prostate gland cancer" EXACT [MONDO:patterns/location]
synonym: "prostate neoplasm" BROAD [CSP2005:2016-2641, DOID:10283]
synonym: "prostatic cancer" EXACT [CSP2005:2016-2641, DOID:10283]
synonym: "prostatic neoplasm" BROAD [DOID:10283]
synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343]
xref: COHD:4163261 {source="MONDO:equivalentTo"}
xref: DOID:10283 {source="MONDO:equivalentTo"}
xref: ICD10:C61 {source="Orphanet:1331", source="DOID:10283", source="ORDO:1331/attributed", source="ORDO:1331/ntbt"}
xref: ICD9:185 {source="MONDO:equivalentTo", source="DOID:10283", source="i2s"}
xref: MESH:D011471 {source="MONDO:equivalentTo", source="DOID:10283"}
xref: NCIT:C7378 {source="MONDO:equivalentTo", source="DOID:10283"}
xref: SCTID:399068003 {source="MONDO:equivalentTo", source="DOID:10283", source="MONDO:kboom-pr-0.80/0.58/0.09"}
xref: UMLS:C0376358 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7378", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176807", source="DOID:10283"}
is_a: MONDO:0005836 {source="DOID:10283", source="NCIT:C7378", source="linkedlifedata"} ! male reproductive organ cancer
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C7378"} ! prostate neoplasm
relationship: excluded_subClassOf MONDO:0017130 {source="Orphanet:1331"} ! obsolete genetic urogenital tumor
property_value: closeMatch http://identifiers.org/snomedct/126906006
property_value: closeMatch http://identifiers.org/snomedct/363448003
property_value: closeMatch http://identifiers.org/snomedct/93974005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033578
property_value: exactMatch DOID:10283
property_value: exactMatch http://identifiers.org/mesh/D011471
property_value: exactMatch http://identifiers.org/snomedct/399068003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376358
property_value: exactMatch NCIT:C7378

[Term]
id: MONDO:0008316
name: thrombophilia due to protein C deficiency, autosomal dominant
synonym: "Proc deficiency, autosomal dominant" RELATED [OMIM:176860]
synonym: "Protein C deficiency, acquired" RELATED [OMIM:176860]
synonym: "Protein C deficiency, autosomal dominant" RELATED [OMIM:176860]
synonym: "THPH3" RELATED [MONDO:Lexical, OMIM:176860]
synonym: "thrombophilia due to protein C deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:176860]
synonym: "thrombophilia due to PROTEIN C deficiency, autosomal dominant; THPH3" RELATED [OMIM:176860]
xref: OMIM:176860 {source="MONDO:equivalentTo"}
is_a: MONDO:0019145 {source="MONDOLEX:0008316", source="ORDO:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674321
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674322
property_value: exactMatch http://identifiers.org/omim/176860

[Term]
id: MONDO:0008317
name: proteolytic capacity of plasma
synonym: "proteolytic capacity of plasma" EXACT [OMIM:176900]
xref: OMIM:176900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867621
property_value: exactMatch http://identifiers.org/omim/176900

[Term]
id: MONDO:0008318
name: Proteus syndrome
def: "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." [Orphanet:744]
subset: ordo_malformation_syndrome {source="Orphanet:744"}
synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716, OMIM:176920]
synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716, OMIM:176920]
synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" EXACT [Orphanet:744]
synonym: "Proteus syndrome" EXACT [OMIM:176920]
synonym: "Wiedemann's syndrome" EXACT [DOID:13482]
xref: DOID:13482 {source="MONDO:equivalentTo"}
xref: GARD:0007475 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.3 {source="Orphanet:744", source="ORDO:744/attributed", source="ORDO:744/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016715 {source="ORDO:744/e", source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo"}
xref: MONDO:0023663 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C85032 {source="DOID:13482", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:176920 {source="ORDO:744/e", source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo"}
xref: Orphanet:744 {source="MONDO:equivalentTo", source="OMIM:176920"}
xref: SCTID:23150001 {source="MONDO:kboom-pr-0.93/0.75/1.29", source="DOID:13482", source="MONDO:equivalentTo"}
xref: UMLS:C0085261 {source="ORDO:744/e", source="Orphanet:744", source="NCBI:mim2gene_medline", source="DOID:13482", source="MONDO:equivalentTo", source="NCIT:C85032", source="OMIM:176920"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015501 {source="Orphanet:744"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015651 {source="Orphanet:744"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:744", source="Orphanet:744/inferred"} ! genetic vascular anomaly
is_a: MONDO:0016235 {source="Orphanet:744"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0017623 {source="Orphanet:744"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019716 {source="Orphanet:744"} ! overgrowth syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/394527003
property_value: exactMatch DOID:13482
property_value: exactMatch http://identifiers.org/mesh/D016715
property_value: exactMatch http://identifiers.org/omim/176920
property_value: exactMatch http://identifiers.org/snomedct/23150001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085261
property_value: exactMatch NCIT:C85032
property_value: exactMatch Orphanet:744

[Term]
id: MONDO:0008319
name: protoporphyria, erythropoietic, 1
def: "Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase  (FECH) on chromosome 18q21." [OMIM:177000]
subset: gard_rare
synonym: "EPP" RELATED [GARD:0004527, MONDO:Lexical, OMIM:177000]
synonym: "EPP1" EXACT [OMIM:177000]
synonym: "Erythrohepatic protoporphyria" RELATED [GARD:0004527, OMIM:177000]
synonym: "erythropoietic protoporphyria" EXACT [NCIT:C84698]
synonym: "erythropoietic protoporphyria" RELATED [NCIT:C84698]
synonym: "ferrochelatase deficiency" EXACT [GARD:0004527, OMIM:177000]
synonym: "heme synthetase deficiency" EXACT [GARD:0004527, OMIM:177000]
synonym: "protoporphyria, erythropoietic" EXACT [MONDO:Lexical, OMIM:177000]
synonym: "protoporphyria, erythropoietic, 1" EXACT [OMIM:177000]
synonym: "protoporphyria, erythropoietic; EPP" RELATED [OMIM:177000]
xref: GARD:0004527 {source="MONDO:equivalentTo"}
xref: NCIT:C84698 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.36"}
xref: OMIM:177000 {source="GARD:0004527", source="MONDO:equivalentTo"}
is_a: MONDO:0001676 {source="DC-OMIM:177000", source="OMIM:177000"} ! erythropoietic protoporphyria
is_a: MONDO:0019142 {source="MONDO:Redundant", source="MONDOLEX:0008319", source="NCIT:C84698"} ! inherited porphyria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349426
property_value: exactMatch http://identifiers.org/omim/177000
property_value: exactMatch NCIT:C84698

[Term]
id: MONDO:0008320
name: Protrusio acetabuli (disease)
synonym: "PROTRUSIO acetabuli" RELATED [OMIM:177050]
synonym: "Protrusio acetabuli" EXACT [MONDO:ambiguous]
xref: HP:0003179 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIM:177050 {source="MONDO:equivalentTo"}
xref: SCTID:59606006 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409495
property_value: exactMatch http://identifiers.org/omim/177050
property_value: exactMatch http://identifiers.org/snomedct/59606006

[Term]
id: MONDO:0008321
name: pruritus, hereditary localized
synonym: "pruritus, hereditary localized" EXACT [OMIM:177100]
xref: MESH:C566754 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177100 {source="MONDO:equivalentTo"}
xref: UMLS:C1867499 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:177100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566754
property_value: exactMatch http://identifiers.org/omim/177100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867499

[Term]
id: MONDO:0008322
name: pseudoachondroplasia
def: "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." [Orphanet:750]
subset: gard_rare {source="GARD:0004540"}
subset: ordo_disease {source="Orphanet:750"}
synonym: "PSACH" RELATED [MONDO:Lexical, OMIM:177170]
synonym: "pseudoachondroplasia" EXACT [DOID:0080047, MONDO:Lexical, OMIM:177170]
synonym: "pseudoachondroplasia; PSACH" RELATED [OMIM:177170]
synonym: "Pseudoachondroplastic dysplasia" EXACT [OMIM:177170, Orphanet:750]
synonym: "pseudoachondroplastic dysplasia" EXACT [DOID:0080047]
synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [Orphanet:750]
synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" RELATED [GARD:0004540]
synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047]
synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170]
xref: DOID:0080047 {source="MONDO:equivalentTo"}
xref: GARD:0004540 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:750/attributed", source="ORDO:750/ntbt", source="Orphanet:750"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535819 {source="MONDO:equivalentTo", source="ORDO:750/e", source="MONDO:ontobio", source="Orphanet:750"}
xref: NCIT:C118635 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:177170 {source="MONDO:equivalentTo", source="DOID:0080047", source="ORDO:750/e", source="Orphanet:750"}
xref: Orphanet:750 {source="OMIM:177170", source="MONDO:equivalentTo"}
xref: SCTID:22567005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0410538 {source="OMIM:177170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118635", source="ORDO:750/e", source="Orphanet:750"}
is_a: MONDO:0005516 {source="DOID:0080047", source="MESH:C535819/inferred"} ! osteochondrodysplasia
is_a: MONDO:0019692 {source="Orphanet:750"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: exactMatch DOID:0080047
property_value: exactMatch http://identifiers.org/mesh/C535819
property_value: exactMatch http://identifiers.org/omim/177170
property_value: exactMatch http://identifiers.org/snomedct/22567005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410538
property_value: exactMatch NCIT:C118635
property_value: exactMatch Orphanet:750
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia xsd:anyURI {source="GARD:0004540"}

[Term]
id: MONDO:0008323
name: Liddle syndrome
def: "Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." [Orphanet:526]
subset: gard_rare {source="GARD:0007381"}
subset: ordo_disease {source="Orphanet:526"}
synonym: "Liddle syndrome" EXACT [MONDO:Lexical, OMIM:177200]
synonym: "Liddle syndrome; LIDLS" RELATED [OMIM:177200]
synonym: "Liddle's syndrome" EXACT [DOID:0050477]
synonym: "LIDLS" RELATED [MONDO:Lexical, OMIM:177200]
synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526]
synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526]
xref: DOID:0050477 {source="MONDO:equivalentTo"}
xref: GARD:0007381 {source="MONDO:equivalentTo"}
xref: ICD10:I15.1 {source="Orphanet:526", source="ORDO:526/attributed", source="ORDO:526/ntbt"}
xref: MedDRA:10037113 {source="ORDO:526/e", source="Orphanet:526"}
xref: MedDRA:10052313 {source="ORDO:526/e", source="Orphanet:526"}
xref: MESH:D056929 {source="ORDO:526/e", source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84827 {source="DOID:0050477", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:177200 {source="MONDO:equivalentTo"}
xref: Orphanet:526 {source="MONDO:equivalentTo", source="OMIM:177200"}
xref: SCTID:707747007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.95"}
xref: UMLS:C0221043 {source="ORDO:526/e", source="Orphanet:526", source="DOID:0050477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84827", source="OMIM:177200"}
is_a: MONDO:0002254 {source="MONDOLEX:0008323", source="NCIT:C84827"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:0050477", source="MESH:D056929"} ! renal tubular transport disease
is_a: MONDO:0015512 {source="Orphanet:526"} ! genetic hypertension
property_value: closeMatch http://identifiers.org/snomedct/190901004
property_value: closeMatch http://identifiers.org/snomedct/237493003
property_value: closeMatch http://identifiers.org/snomedct/707749005
property_value: closeMatch http://identifiers.org/snomedct/71275003
property_value: exactMatch DOID:0050477
property_value: exactMatch http://identifiers.org/meddra/10037113
property_value: exactMatch http://identifiers.org/meddra/10052313
property_value: exactMatch http://identifiers.org/mesh/D056929
property_value: exactMatch http://identifiers.org/omim/177200
property_value: exactMatch http://identifiers.org/snomedct/707747007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221043
property_value: exactMatch NCIT:C84827
property_value: exactMatch Orphanet:526
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome xsd:anyURI {source="GARD:0007381"}

[Term]
id: MONDO:0008324
name: pseudoarthrogryposis
synonym: "ankylosis at elbow and knee" RELATED [OMIM:177300]
synonym: "hereditary congenital rigidity of elbows and knees" RELATED [OMIM:177300]
synonym: "pseudoarthrogryposis" EXACT [OMIM:177300]
xref: MESH:C566753 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177300 {source="MONDO:equivalentTo"}
xref: UMLS:C1867485 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:177300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566753
property_value: exactMatch http://identifiers.org/omim/177300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867485

[Term]
id: MONDO:0008325
name: Pseudoatrophoderma colli
synonym: "Pseudoatrophoderma colli" EXACT [OMIM:177350]
xref: MESH:C562909 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177350 {source="MONDO:equivalentTo"}
xref: SCTID:238840009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0406561 {source="NCBI:mim2gene_medline", source="OMIM:177350", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562909
property_value: exactMatch http://identifiers.org/omim/177350
property_value: exactMatch http://identifiers.org/snomedct/238840009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406561

[Term]
id: MONDO:0008326
name: pseudocholinesterase, increase in plasma level of
synonym: "pseudocholinesterase, increase in plasma level OF" RELATED [OMIM:177600]
xref: OMIM:177600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867466
property_value: exactMatch http://identifiers.org/omim/177600

[Term]
id: MONDO:0008327
name: exfoliation syndrome
def: "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." [NCIT:C129025]
synonym: "exfoliation glaucoma" RELATED [OMIM:177650]
synonym: "exfoliation syndrome" EXACT [MONDO:Lexical, OMIM:177650]
synonym: "exfoliation syndrome; XFS" RELATED [OMIM:177650]
synonym: "Pseudoexfoliation glaucoma" EXACT [DOID:13641, ICD9CM_2006:365.52, OMIM:177650]
synonym: "Pseudoexfoliation of the lens" RELATED [OMIM:177650]
synonym: "Pseudoexfoliation syndrome" EXACT [DOID:13641, OMIM:177650]
synonym: "XFG" EXACT [NCIT:C129025]
synonym: "XFS" RELATED [MONDO:Lexical, OMIM:177650]
xref: COHD:437273 {source="MONDO:equivalentTo"}
xref: DOID:13641 {source="EFO:0004235", source="MONDO:equivalentTo"}
xref: EFO:0004235 {source="MONDO:equivalentTo", source="DOID:13641"}
xref: ICD9:365.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13641"}
xref: MESH:D017889 {source="EFO:0004235", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13641"}
xref: NCIT:C129025 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:177650 {source="EFO:0004235", source="MONDO:equivalentTo", source="DOID:13641"}
xref: SCTID:111514006 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:13641"}
xref: UMLS:C0206368 {source="NCIT:C129025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:177650", source="DOID:13641"}
is_a: MONDO:0001554 {source="DOID:13641"} ! phacogenic glaucoma
is_a: MONDO:0002254 {source="MONDOLEX:0008327", source="NCIT:C129025"} ! syndromic disease
is_a: MONDO:0002289 {source="DOID:13641", source="MESH:D017889"} ! iris disease
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: closeMatch http://identifiers.org/snomedct/44219007
property_value: exactMatch DOID:13641
property_value: exactMatch http://identifiers.org/mesh/D017889
property_value: exactMatch http://identifiers.org/omim/177650
property_value: exactMatch http://identifiers.org/snomedct/111514006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206368
property_value: exactMatch NCIT:C129025

[Term]
id: MONDO:0008328
name: glaucoma 1, open angle, P
synonym: "glaucoma 1, open angle, P" EXACT [MONDO:Lexical, OMIM:177700]
synonym: "glaucoma 1, open angle, P; GLC1P" RELATED [OMIM:177700]
synonym: "glaucoma 1, open angle, type P" EXACT [MONDORULE:1, OMIM:177700]
synonym: "GLC1P" RELATED [MONDO:Lexical, OMIM:177700]
xref: OMIM:177700 {source="MONDO:equivalentTo"}
xref: UMLS:C3888338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3147379
property_value: exactMatch http://identifiers.org/omim/177700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888338

[Term]
id: MONDO:0008329
name: autosomal dominant pseudohypoaldosteronism type 1
def: "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." [Orphanet:171871]
subset: gard_rare {source="GARD:0009145"}
subset: ordo_clinical_subtype {source="Orphanet:171871"}
synonym: "autosomal dominant PHA 1" EXACT [DOID:0060855]
synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT [Orphanet:171871]
synonym: "PHA I, autosomal dominant" RELATED [OMIM:177735]
synonym: "PHA1A" EXACT [DOID:0060855, MONDO:Lexical, OMIM:177735]
synonym: "pseudohypoaldosteronism type 1 autosomal dominant" RELATED [GARD:0009145]
synonym: "pseudohypoaldosteronism type 1, dominant" RELATED [GARD:0009145]
synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Lexical, OMIM:177735]
synonym: "pseudohypoaldosteronism, type I, autosomal dominant; PHA1A" RELATED [OMIM:177735]
synonym: "renal PHA1" RELATED [GARD:0009145]
synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145]
xref: DOID:0060855 {source="MONDO:equivalentTo"}
xref: GARD:0009145 {source="MONDO:equivalentTo"}
xref: ICD10:N25.8 {source="ORDO:171871/attributed", source="ORDO:171871/ntbt", source="DOID:0060855", source="Orphanet:171871"}
xref: OMIM:177735 {source="MONDO:equivalentTo", source="DOID:0060855", source="Orphanet:171871", source="ORDO:171871/e"}
xref: Orphanet:171871 {source="MONDO:equivalentTo", source="OMIM:177735"}
xref: UMLS:C1449842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171871", source="OMIM:177735"}
is_a: MONDO:0019161 {source="MONDOLEX:0008329", source="Orphanet:171871"} ! pseudohypoaldosteronism type 1
property_value: exactMatch DOID:0060855
property_value: exactMatch http://identifiers.org/omim/177735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449842
property_value: exactMatch Orphanet:171871
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 xsd:anyURI {source="GARD:0009145"}

[Term]
id: MONDO:0008330
name: pseudomonilethrix
synonym: "pseudomonilethrix" EXACT [OMIM:177750]
xref: MESH:C562988 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177750 {source="MONDO:equivalentTo"}
xref: SCTID:254229006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432346 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:177750"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562988
property_value: exactMatch http://identifiers.org/omim/177750
property_value: exactMatch http://identifiers.org/snomedct/254229006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432346

[Term]
id: MONDO:0008331
name: pseudopapilledema (disease)
def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [HPO:probinson]
comment: May be merged in future as this represents a phenotypic feature
subset: ordo_group_of_disorders
synonym: "crowded optic disc" RELATED []
synonym: "pseudopapilledema" EXACT [MONDO:ambiguous, OMIM:177800]
xref: COHD:436702 {source="MONDO:equivalentTo"}
xref: DOID:1392 {source="MONDO:equivalentTo"}
xref: HP:0000538 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:377.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:1392"}
xref: MESH:C562401 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1392"}
xref: OMIM:177800 {source="MONDO:equivalentTo", source="DOID:1392"}
xref: Orphanet:519339 {source="MONDO:equivalentTo"}
xref: SCTID:57138009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1392"}
xref: UMLS:C0155300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:1392", source="OMIM:177800"}
is_a: MONDO:0001834 {source="DOID:1392", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! visual pathway disease
is_a: MONDO:0002135 {source="MESH:C562401", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease
is_a: MONDO:0005283 ! retinal disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:1392
property_value: exactMatch http://identifiers.org/mesh/C562401
property_value: exactMatch http://identifiers.org/omim/177800
property_value: exactMatch http://identifiers.org/snomedct/57138009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155300
property_value: exactMatch Orphanet:519339

[Term]
id: MONDO:0008332
name: pseudo-von Willebrand disease
def: "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." [Orphanet:52530]
comment: Editor note: check relationship to vWD
subset: ordo_disease {source="Orphanet:52530"}
synonym: "BDPLT3" EXACT [DOID:0111056]
synonym: "bleeding disorder, Platelet-type, 3" RELATED [OMIM:177820]
synonym: "Platelet type-von Willebrand disease" EXACT [Orphanet:52530]
synonym: "platelet type-von Willebrand disease" EXACT [DOID:0111056]
synonym: "platelet-type bleeding disorder 3" RELATED [DOID:0111056]
synonym: "Platelet-type von Willebrand disease" EXACT [NCIT:C131681]
synonym: "pseudo-von Willebrand disease" EXACT [DOID:0111056, MONDO:Lexical, OMIM:177820]
synonym: "pseudo-von Willebrand disease type 2B" EXACT [Orphanet:52530]
synonym: "pseudo-VON WILLEBRAND disease; VWDP" RELATED [OMIM:177820]
synonym: "PT-VWD" EXACT [DOID:0111056, Orphanet:52530]
synonym: "von Willebrand disease platelet-type" EXACT [DOID:0111056]
synonym: "Von Willebrand disease, platelet type" RELATED [GARD:0008312]
synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820]
synonym: "VWDP" RELATED [MONDO:Lexical, OMIM:177820]
xref: DOID:0111056 {source="MONDO:equivalentTo"}
xref: GARD:0008312 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.8 {source="Orphanet:52530", source="DOID:0111056", source="ORDO:52530/attributed", source="ORDO:52530/ntbt"}
xref: MESH:C536458 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131681 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="DOID:0111056", source="ORDO:52530/e"}
xref: Orphanet:52530 {source="MONDO:equivalentTo", source="DOID:0111056", source="OMIM:177820"}
is_a: MONDO:0017142 {source="Orphanet:52530"} ! hemorrhagic disorder due to a qualitative platelet defect
is_a: MONDO:0019565 {source="MONDO:Redundant", source="MONDOLEX:0008332", source="NCIT:C131681"} ! hereditary von Willebrand disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1280798
property_value: exactMatch DOID:0111056
property_value: exactMatch http://identifiers.org/mesh/C536458
property_value: exactMatch http://identifiers.org/omim/177820
property_value: exactMatch NCIT:C131681
property_value: exactMatch Orphanet:52530

[Term]
id: MONDO:0008333
name: pseudoxanthoma elasticum, forme fruste
def: "An autosomal dominant form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
subset: gard_rare {source="GARD:0010104"}
synonym: "pseudoxanthoma elasticum, forme fruste" EXACT [OMIM:177850]
synonym: "pseudoxanthoma elasticum, heterozygous" RELATED [OMIM:177850]
xref: GARD:0010104 {source="MONDO:equivalentTo"}
xref: OMIM:177850 {source="MONDO:equivalentTo"}
is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum
relationship: excluded_subClassOf MONDO:0009925 {source="DC-OMIM:177850", source="MONDOLEX:0008333"} ! autosomal recessive inherited pseudoxanthoma elasticum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867450
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867451
property_value: exactMatch http://identifiers.org/omim/177850
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste xsd:anyURI {source="GARD:0010104"}

[Term]
id: MONDO:0008334
name: psoriasis 1, susceptibility to
def: "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HLA-C psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "psoriasis 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:177900]
synonym: "psoriasis 1, susceptibility to; PSORS1" RELATED [OMIM:177900]
synonym: "psoriasis caused by mutation in HLA-C" EXACT [MONDO:design_pattern]
synonym: "PSORS1" RELATED [MONDO:Lexical, OMIM:177900]
synonym: "susceptibility to psoriasis 1" RELATED [OMIM:177900]
xref: OMIM:177900 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005083 ! psoriasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867449
property_value: exactMatch http://identifiers.org/omim/177900

[Term]
id: MONDO:0008335
name: short stature-craniofacial anomalies-genital hypoplasia syndrome
def: "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." [Orphanet:2994]
subset: ordo_malformation_syndrome {source="Orphanet:2994"}
synonym: "Haspeslagh syndrome" RELATED [OMIM:177980]
synonym: "Haspeslagh-Fryns-Muelenaere syndrome" EXACT [Orphanet:2994]
synonym: "pterygia mental retardation facial dysmorphism" RELATED [GARD:0002605]
synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED [GARD:0002605]
synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED [OMIM:177980]
xref: GARD:0002605 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2994", source="ORDO:2994/attributed", source="ORDO:2994/ntbt"}
xref: MESH:C535844 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177980 {source="ORDO:2994/e", source="Orphanet:2994", source="MONDO:equivalentTo"}
xref: Orphanet:2994 {source="MONDO:equivalentTo", source="OMIM:177980"}
xref: SCTID:716090004 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C1867443 {source="ORDO:2994/e", source="NCBI:mim2gene_medline", source="Orphanet:2994", source="MONDO:equivalentTo", source="OMIM:177980"}
is_a: MONDO:0043008 {source="Orphanet:2994"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535844
property_value: exactMatch http://identifiers.org/omim/177980
property_value: exactMatch http://identifiers.org/snomedct/716090004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867443
property_value: exactMatch Orphanet:2994

[Term]
id: MONDO:0008336
name: pterygium colli, isolated
synonym: "pterygium colli, isolated" EXACT [OMIM:177990]
xref: MESH:C566741 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:177990 {source="MONDO:equivalentTo"}
xref: UMLS:C1867442 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:177990"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566741
property_value: exactMatch http://identifiers.org/omim/177990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867442

[Term]
id: MONDO:0008337
name: familial pterygium of the conjunctiva
def: "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." [Orphanet:2989]
subset: ordo_morphological_anomaly {source="Orphanet:2989"}
synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000]
synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569]
xref: GARD:0004569 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H11.0 {source="ORDO:2989/attributed", source="ORDO:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"}
xref: MESH:C566740 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178000 {source="MONDO:equivalentTo", source="ORDO:2989/e", source="Orphanet:2989"}
xref: Orphanet:2989 {source="OMIM:178000", source="MONDO:equivalentTo"}
xref: UMLS:C1867441 {source="OMIM:178000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005085 ! pterygium
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0005085 ! pterygium
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C566740
property_value: exactMatch http://identifiers.org/omim/178000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867441
property_value: exactMatch Orphanet:2989

[Term]
id: MONDO:0008338
name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
subset: gard_rare {source="GARD:0013058"}
subset: ordo_malformation_syndrome {source="Orphanet:65743"}
synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical, OMIM:178110]
synonym: "arthrogryposis, distal, type 8; DA8" RELATED [OMIM:178110]
synonym: "DA8" RELATED [MONDO:Lexical, OMIM:178110]
synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743]
synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110]
synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110]
xref: GARD:0013058 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="Orphanet:65743", source="ORDO:65743/attributed", source="ORDO:65743/ntbt"}
xref: MESH:C566739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178110 {source="ORDO:65743/e", source="Orphanet:65743", source="MONDO:equivalentTo"}
xref: Orphanet:65743 {source="OMIM:178110", source="MONDO:equivalentTo"}
xref: UMLS:C1867440 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:65743", source="OMIM:178110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0019942 {source="DC-OMIM:178110", source="Orphanet:65743"} ! distal arthrogryposis
is_a: MONDO:0020937 {source="MONDO:cjm"} ! contractures, pterygia, and variable skeletal fusions syndrome
property_value: exactMatch http://identifiers.org/mesh/C566739
property_value: exactMatch http://identifiers.org/omim/178110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867440
property_value: exactMatch Orphanet:65743
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome xsd:anyURI {source="GARD:0013058"}

[Term]
id: MONDO:0008339
name: antecubital pterygium syndrome
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:2987"}
synonym: "antecubital pterygium" RELATED [GARD:0004570]
synonym: "pterygium antecubital" RELATED [GARD:0004570]
synonym: "pterygium, antecubital" RELATED [OMIM:178200]
xref: GARD:0004570 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C566738 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178200 {source="MONDO:equivalentTo", source="ORDO:2987/e", source="Orphanet:2987"}
xref: Orphanet:2987 {source="MONDO:equivalentTo", source="OMIM:178200"}
xref: UMLS:C1867439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:178200", source="Orphanet:2987"}
is_a: MONDO:0018798 {source="Orphanet:2987"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:2987"} ! dermis disease
property_value: exactMatch http://identifiers.org/mesh/C566738
property_value: exactMatch http://identifiers.org/omim/178200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867439
property_value: exactMatch Orphanet:2987

[Term]
id: MONDO:0008340
name: congenital ptosis (disease)
def: "Congenital ptosis is characterized by superior eyelid drop present at birth." [Orphanet:91411]
subset: ordo_disease {source="Orphanet:91411"}
synonym: "congenital eyelid ptosis" EXACT [NCIT:C27049]
synonym: "congenital ptosis" EXACT [MONDO:ambiguous]
synonym: "PTOS1" RELATED [MONDO:Lexical, OMIM:178300]
synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300]
synonym: "ptosis, hereditary congenital 1; PTOS1" RELATED [OMIM:178300]
xref: COHD:437093 {source="MONDO:equivalentTo"}
xref: DOID:0060261 {source="MONDO:equivalentTo"}
xref: HP:0007970 {source="MONDO:otherHierarchy", source="ontobio", source="DOID:0060261"}
xref: ICD10:Q10.0 {source="ORDO:91411/specific", source="ORDO:91411/e", source="Orphanet:91411", source="DOID:0060261"}
xref: ICD9:743.61 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060261"}
xref: MedDRA:10015996 {source="ORDO:91411/e", source="Orphanet:91411"}
xref: MESH:C566737 {source="MONDO:equivalentTo"}
xref: NCIT:C27049 {source="MONDO:equivalentTo", source="DOID:0060261"}
xref: OMIM:178300 {source="ORDO:91411/e", source="MONDO:equivalentTo", source="Orphanet:91411", source="DOID:0060261"}
xref: Orphanet:91411 {source="MONDO:equivalentTo", source="OMIM:178300"}
xref: SCTID:268163008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060261"}
is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049", source="linkedlifedata"} ! ptosis (disease)
is_a: MONDO:0020169 {source="Orphanet:91411"} ! rare disorder with ptosis
property_value: closeMatch http://identifiers.org/snomedct/156901004
property_value: closeMatch http://identifiers.org/snomedct/204197004
property_value: closeMatch http://identifiers.org/snomedct/60938005
property_value: closeMatch http://identifiers.org/snomedct/61989004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867438
property_value: exactMatch DOID:0060261
property_value: exactMatch http://identifiers.org/meddra/10015996
property_value: exactMatch http://identifiers.org/mesh/C566737
property_value: exactMatch http://identifiers.org/omim/178300
property_value: exactMatch http://identifiers.org/snomedct/268163008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266573
property_value: exactMatch NCIT:C27049
property_value: exactMatch Orphanet:91411

[Term]
id: MONDO:0008341
name: ptosis-strabismus-ectopic pupils syndrome
def: "Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." [Orphanet:2999]
subset: ordo_malformation_syndrome {source="Orphanet:2999"}
synonym: "McPherson-Hall syndrome" EXACT [Orphanet:2999]
synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577]
synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330]
xref: GARD:0004577 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C566736 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="ORDO:2999/e"}
xref: Orphanet:2999 {source="OMIM:178330", source="MONDO:equivalentTo"}
xref: UMLS:C1867437 {source="OMIM:178330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2999", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0020169 {source="Orphanet:2999"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/C566736
property_value: exactMatch http://identifiers.org/omim/178330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867437
property_value: exactMatch Orphanet:2999

[Term]
id: MONDO:0008342
name: pubic bone dysplasia
synonym: "pubic bone dysplasia" EXACT [OMIM:178350]
xref: MESH:C566735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178350 {source="MONDO:equivalentTo"}
xref: UMLS:C1867436 {source="OMIM:178350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566735/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566735
property_value: exactMatch http://identifiers.org/omim/178350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867436

[Term]
id: MONDO:0008343
name: pulmonary atresia with ventricular septal defect
def: "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term)." [Orphanet:1207]
subset: gard_rare {source="GARD:0004588"}
subset: ordo_morphological_anomaly {source="Orphanet:1207"}
synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370]
synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033]
xref: GARD:0004588 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.5 {source="ORDO:1207/ntbt", source="Orphanet:1207"}
xref: MESH:C562833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99033 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.60"}
xref: OMIM:178370 {source="MONDO:equivalentTo", source="ORDO:1207/e", source="Orphanet:1207"}
xref: Orphanet:1207 {source="OMIM:178370", source="MONDO:equivalentTo"}
xref: SCTID:253591008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.22"}
xref: UMLS:C0344976 {source="OMIM:178370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99033", source="ORDO:1207/e", source="Orphanet:1207"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0016581 {source="Orphanet:1207"} ! conotruncal heart malformations
property_value: exactMatch http://identifiers.org/mesh/C562833
property_value: exactMatch http://identifiers.org/omim/178370
property_value: exactMatch http://identifiers.org/snomedct/253591008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344976
property_value: exactMatch NCIT:C99033
property_value: exactMatch Orphanet:1207
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect xsd:anyURI {source="GARD:0004588"}

[Term]
id: MONDO:0008344
name: pulmonary edema of mountaineers, susceptibility to
subset: predisposition
synonym: "HAPH" RELATED [GARD:0008348]
synonym: "high altitude pulmonary hypertension" RELATED [OMIM:178400]
synonym: "pulmonary edema of mountaineers" RELATED [GARD:0008348]
synonym: "pulmonary edema of mountaineers, susceptibility to" EXACT [OMIM:178400]
xref: GARD:0008348 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:993.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178400 {source="MONDO:equivalentTo"}
xref: SCTID:233954004 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340100
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340552
property_value: exactMatch http://identifiers.org/mesh/C535833
property_value: exactMatch http://identifiers.org/omim/178400
property_value: exactMatch http://identifiers.org/snomedct/233954004

[Term]
id: MONDO:0008345
name: idiopathic pulmonary fibrosis
def: "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." [Orphanet:2032]
subset: gard_rare {source="GARD:0008609"}
subset: ordo_disease {source="Orphanet:2032"}
synonym: "CFA" EXACT [Orphanet:2032]
synonym: "cryptogenic fibrosing alveolitis" EXACT [DOID:0050156, Orphanet:2032]
synonym: "familial idiopathic pulmonary fibrosis" RELATED [GARD:0008609]
synonym: "fibrocystic pulmonary dysplasia" EXACT [DOID:0050156, OMIM:178500]
synonym: "fibrosing alveolitis" RELATED [GARD:0008609]
synonym: "fibrosing alveolitis, cryptogenic" RELATED [OMIM:178500]
synonym: "Hamman-rich disease" RELATED [OMIM:178500]
synonym: "idiopathic pulmonary fibrosis, familial" EXACT [DOID:0050156, OMIM:178500]
synonym: "interstitial pneumonitis, usual" RELATED [OMIM:178500]
synonym: "IPF" RELATED [MONDO:Lexical, OMIM:178500]
synonym: "pulmonary fibrosis, idiopathic" RELATED [MONDO:Lexical, OMIM:178500]
synonym: "pulmonary fibrosis, idiopathic; IPF" RELATED [OMIM:178500]
synonym: "UIP" EXACT [Orphanet:2032]
synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032]
xref: COHD:45763750 {source="MONDO:equivalentTo"}
xref: DOID:0050156 {source="MONDO:equivalentTo", source="EFO:0000768"}
xref: EFO:0000768 {source="DOID:0050156", source="MONDO:equivalentTo"}
xref: GARD:0008609 {source="MONDO:equivalentTo"}
xref: ICD10:J84.1 {source="ORDO:2032/ntbt", source="Orphanet:2032"}
xref: ICD10:J84.112 {source="DOID:0050156", source="MONDO:equivalentTo"}
xref: ICD9:516.31 {source="DOID:0050156", source="EFO:0000768"}
xref: MedDRA:10021240 {source="Orphanet:2032", source="ORDO:2032/e"}
xref: MESH:D054990 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"}
xref: NCIT:C35716 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768"}
xref: OMIM:178500 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"}
xref: Orphanet:2032 {source="MONDO:equivalentTo", source="OMIM:178500"}
xref: SCTID:196125002 {source="DOID:0050156", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.11"}
is_a: MONDO:0002429 {source="DOID:0050156", source="MESH:D054990", source="MONDOLEX:0008345", source="Orphanet:2032", source="https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia"} ! idiopathic interstitial pneumonia
is_a: MONDO:0002771 {source="MESH:D054990", source="NCIT:C35716", source="linkedlifedata"} ! pulmonary fibrosis
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: closeMatch http://identifiers.org/snomedct/233721005
property_value: closeMatch http://identifiers.org/snomedct/237121003
property_value: closeMatch http://identifiers.org/snomedct/28168000
property_value: closeMatch http://identifiers.org/snomedct/426437004
property_value: closeMatch http://identifiers.org/snomedct/700250006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1800706
property_value: closeMatch NCIT:C35715
property_value: exactMatch DOID:0050156
property_value: exactMatch http://identifiers.org/meddra/10021240
property_value: exactMatch http://identifiers.org/mesh/D054990
property_value: exactMatch http://identifiers.org/omim/178500
property_value: exactMatch http://identifiers.org/snomedct/196125002
property_value: exactMatch NCIT:C35716
property_value: exactMatch Orphanet:2032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis xsd:anyURI {source="GARD:0008609"}

[Term]
id: MONDO:0008346
name: pulmonary hemosiderosis
def: "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." [Orphanet:99931]
subset: gard_rare {source="GARD:0007645"}
subset: ordo_disease {source="Orphanet:99931"}
synonym: "alveolar hypoventilation syndrome" RELATED [GARD:0006763]
synonym: "brown induration" EXACT [DOID:12118]
synonym: "brown lung" EXACT [CSP2005:2596-2097, DOID:12118]
synonym: "idiopathic pulmonary hemosiderosis" EXACT [DOID:12118, ICD9CM_2006:516.1]
synonym: "pulmonary hemosiderosis" EXACT [OMIM:178550]
synonym: "pulmonary siderosis" EXACT [DOID:10328, MONDO:0001002]
synonym: "siderosis" RELATED [DOID:10328]
xref: COHD:438782 {source="MONDO:equivalentTo"}
xref: DOID:10328 {source="MONDO:equivalentTo"}
xref: DOID:12118 {source="MONDO:equivalentTo"}
xref: GARD:0006763 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0007645 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1+ {source="Orphanet:99931", source="ORDO:99931/ntbt"}
xref: ICD10:J63.4 {source="DOID:10328"}
xref: ICD10:J84.03 {source="DOID:12118"}
xref: ICD10:J99.8* {source="Orphanet:99931", source="ORDO:99931/ntbt"}
xref: ICD9:516.1 {source="DOID:12118", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012806 {source="DOID:10328", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178550 {source="ORDO:99931/e", source="Orphanet:99931", source="DOID:12118", source="MONDO:equivalentTo"}
xref: Orphanet:99931 {source="DOID:12118", source="OMIM:178550", source="MONDO:equivalentTo"}
xref: SCTID:40527005 {source="DOID:12118", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
is_a: MONDO:0001436 {source="DOID:12118", source="linkedlifedata"} ! hemosiderosis
is_a: MONDO:0015926 {source="DOID:10328", source="MESH:D012806"} ! pneumoconiosis
is_a: MONDO:0017031 {source="Orphanet:99931"} ! primary interstitial lung disease in childhood and adulthood
property_value: closeMatch http://identifiers.org/snomedct/155591007
property_value: closeMatch http://identifiers.org/snomedct/190848001
property_value: closeMatch http://identifiers.org/snomedct/266401007
property_value: closeMatch http://identifiers.org/snomedct/62371005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037061
property_value: exactMatch DOID:10328
property_value: exactMatch DOID:12118
property_value: exactMatch http://identifiers.org/mesh/C536281
property_value: exactMatch http://identifiers.org/mesh/D012806
property_value: exactMatch http://identifiers.org/omim/178550
property_value: exactMatch http://identifiers.org/snomedct/40527005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020807
property_value: exactMatch Orphanet:99931
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7645/siderosis xsd:anyURI {source="GARD:0007645"}

[Term]
id: MONDO:0008347
name: idiopathic and/or familial pulmonary arterial hypertension
def: "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown ." [Orphanet:422]
subset: ordo_disease {source="Orphanet:422"}
synonym: "IFPAH" EXACT [MONDO:cjm]
synonym: "PPH1" RELATED [MONDO:Lexical, OMIM:178600]
synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600]
synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600]
xref: ICD10:I27.0 {source="MONDO:subClassOf", source="Orphanet:422", source="ORDO:422/specific", source="ORDO:422/e"}
xref: Orphanet:422 {source="MONDO:equivalentTo", source="OMIM:178600"}
xref: UMLS:CN205068 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001999 {source="DC-OMIM:178600", source="OMIM:178600"} ! primary pulmonary hypertension
is_a: MONDO:0015924 {source="Orphanet:422"} ! pulmonary arterial hypertension
relationship: excluded_subClassOf MONDO:0015510 {source="Orphanet:422"} ! obsolete rare genetic respiratory disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969342
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969343
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205068
property_value: exactMatch Orphanet:422

[Term]
id: MONDO:0008348
name: pulmonary nodular lymphoid hyperplasia
def: "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." [Orphanet:60026]
subset: ordo_disease {source="Orphanet:60026"}
synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [OMIM:178610]
synonym: "pulmonary pseudolymphoma" EXACT [Orphanet:60026]
xref: OMIM:178610 {source="ORDO:60026/e", source="MONDO:equivalentTo", source="Orphanet:60026"}
xref: Orphanet:60026 {source="MONDO:equivalentTo", source="OMIM:178610"}
xref: SCTID:718097008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1334969 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1867419 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:178610"}
is_a: MONDO:0005087 {source="Orphanet:60026"} ! respiratory system disease
property_value: exactMatch http://identifiers.org/omim/178610
property_value: exactMatch http://identifiers.org/snomedct/718097008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867419
property_value: exactMatch Orphanet:60026

[Term]
id: MONDO:0008349
name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities
synonym: "Ciuffo syndrome" RELATED [OMIM:178650]
synonym: "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" EXACT [OMIM:178650]
xref: MESH:C566733 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178650 {source="MONDO:equivalentTo"}
xref: UMLS:C1867407 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:178650"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566733
property_value: exactMatch http://identifiers.org/omim/178650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867407

[Term]
id: MONDO:0008350
name: pulmonic stenosis and deafness
synonym: "pulmonic stenosis and deafness" EXACT [OMIM:178651]
xref: OMIM:178651 {source="MONDO:equivalentTo"}
xref: UMLS:C1867406 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:178651"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/178651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867406

[Term]
id: MONDO:0008351
name: pupil, egg-shaped
subset: gard_rare
synonym: "egg shaped pupils" RELATED [GARD:0008291]
synonym: "ovoid pupils" RELATED [GARD:0008291]
synonym: "pupil, egg-shaped" EXACT [OMIM:178800]
xref: GARD:0008291 {source="MONDO:equivalentTo"}
xref: MESH:C566731 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178800 {source="GARD:0008291", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867405
property_value: exactMatch http://identifiers.org/mesh/C566731
property_value: exactMatch http://identifiers.org/omim/178800
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils xsd:anyURI {source="GARD:0008291"}

[Term]
id: MONDO:0008352
name: pupillary membrane, persistence of
synonym: "pupillary membrane, persistence of" EXACT [OMIM:178900]
xref: MESH:C562700 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:178900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271130
property_value: exactMatch http://identifiers.org/mesh/C562700
property_value: exactMatch http://identifiers.org/omim/178900

[Term]
id: MONDO:0008353
name: pruritic urticarial papules and plaques of pregnancy
subset: ordo_disease {source="Orphanet:64745"}
synonym: "polymorphic eruption of pregnancy" EXACT [OMIM:178995, Orphanet:64745]
synonym: "pruritic urticarial papules and plaques of pregnancy" EXACT [MONDO:Lexical, OMIM:178995]
synonym: "pruritic urticarial papules and plaques of pregnancy, familial (subtype)" RELATED [GARD:0009635]
synonym: "pruritic urticarial papules and plaques of pregnancy; PUPPP" RELATED [OMIM:178995]
synonym: "pruritic urticarial papules plaques of pregnancy" RELATED [GARD:0009635]
synonym: "PUPPP" RELATED [MONDO:Lexical, OMIM:178995]
xref: GARD:0009635 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:O26.8 {source="Orphanet:64745", source="ORDO:64745/ntbt"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066100 {source="ORDO:64745/e", source="Orphanet:64745"}
xref: MESH:C535817 {source="ORDO:64745/e", source="MONDO:equivalentTo", source="Orphanet:64745", source="MONDO:ontobio"}
xref: OMIM:178995 {source="ORDO:64745/e", source="MONDO:equivalentTo", source="Orphanet:64745"}
xref: Orphanet:64745 {source="MONDO:equivalentTo", source="OMIM:178995"}
xref: SCTID:88697005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005492 {source="Orphanet:64745"} ! urticaria (disease)
is_a: MONDO:0024575 {source="MESH:C535817", source="MONDO:Redundant", source="Orphanet:64745", source="indirect"} ! pregnancy disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582", source="MONDO:0019298"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10066100
property_value: exactMatch http://identifiers.org/mesh/C535817
property_value: exactMatch http://identifiers.org/omim/178995
property_value: exactMatch http://identifiers.org/snomedct/88697005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269680
property_value: exactMatch Orphanet:64745

[Term]
id: MONDO:0008354
name: purpura simplex
synonym: "purpura simplex" EXACT [OMIM:179000]
xref: GARD:0007508 {source="MONDO:equivalentTo"}
xref: ICD9:287.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179000 {source="MONDO:equivalentTo"}
xref: SCTID:277791008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0272309 {source="NCBI:mim2gene_medline", source="OMIM:179000", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536249
property_value: exactMatch http://identifiers.org/omim/179000
property_value: exactMatch http://identifiers.org/snomedct/277791008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272309

[Term]
id: MONDO:0008355
name: IHPS1
synonym: "IHPS1" EXACT [MONDO:Lexical, OMIM:179010]
synonym: "pyloric stenosis, infantile" RELATED [OMIM:179010]
synonym: "pyloric stenosis, infantile hypertrophic" RELATED [OMIM:179010]
synonym: "pyloric stenosis, infantile hypertrophic, 1" RELATED [MONDO:Lexical, OMIM:179010]
synonym: "pyloric stenosis, infantile hypertrophic, 1; IHPS1" RELATED [OMIM:179010]
xref: OMIM:179010 {source="MONDO:equivalentTo"}
xref: UMLS:C1867403 {source="OMIM:179010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001560 {source="DC-OMIM:179010", source="MONDOLEX:0008355", source="OMIM:179010"} ! hypertrophic pyloric stenosis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/179010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867403

[Term]
id: MONDO:0008356
name: radial heads, posterior dislocation of
synonym: "radial heads, posterior dislocation of" EXACT [OMIM:179200]
xref: MESH:C566728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179200 {source="MONDO:equivalentTo"}
xref: UMLS:C1867398 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566728
property_value: exactMatch http://identifiers.org/omim/179200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867398

[Term]
id: MONDO:0008357
name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
def: "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." [Orphanet:2252]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2252"}
synonym: "radial hypoplasia, triphalangeal thumbs and hypospadias" RELATED [GARD:0004626]
synonym: "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" RELATED [GARD:0004626, OMIM:179250]
synonym: "Schmitt-Gillenwater-Kelly syndrome" EXACT [Orphanet:2252]
xref: GARD:0004626 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:2252/attributed", source="ORDO:2252/ntbt", source="Orphanet:2252"}
xref: MESH:C536262 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179250 {source="GARD:0004626", source="MONDO:equivalentTo", source="Orphanet:2252", source="ORDO:2252/e"}
xref: Orphanet:2252 {source="OMIM:179250", source="MONDO:equivalentTo"}
xref: SCTID:716092007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0015620 {source="Orphanet:2252"} ! syndromic urogenital tract malformation
is_a: MONDO:0043008 {source="Orphanet:2252"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536262
property_value: exactMatch http://identifiers.org/omim/179250
property_value: exactMatch http://identifiers.org/snomedct/716092007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867397
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931274
property_value: exactMatch Orphanet:2252

[Term]
id: MONDO:0008358
name: radial ray hypoplasia-choanal atresia syndrome
def: "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." [Orphanet:3026]
subset: ordo_malformation_syndrome {source="Orphanet:3026"}
synonym: "Goldblatt-Viljoen syndrome" EXACT [Orphanet:3026]
synonym: "radial ray hypoplasia and choanal atresia" RELATED [GARD:0004627]
synonym: "radial ray hypoplasia choanal atresia" RELATED [GARD:0004627]
synonym: "radial RAY hypoplasia with choanal atresia" RELATED [OMIM:179270]
xref: GARD:0004627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:179270 {source="Orphanet:3026", source="ORDO:3026/e", source="MONDO:equivalentTo"}
xref: Orphanet:3026 {source="MONDO:equivalentTo", source="OMIM:179270"}
xref: SCTID:232373003 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:3026"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:3026", source="Orphanet:3026/inferred"} ! genetic otorhinolaryngological malformation
property_value: exactMatch http://identifiers.org/mesh/C536263
property_value: exactMatch http://identifiers.org/mesh/C537280
property_value: exactMatch http://identifiers.org/omim/179270
property_value: exactMatch http://identifiers.org/snomedct/232373003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931464
property_value: exactMatch Orphanet:3026

[Term]
id: MONDO:0008359
name: radio-renal syndrome
def: "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." [Orphanet:3015]
subset: gard_rare {source="GARD:0000224"}
subset: ordo_malformation_syndrome {source="Orphanet:3015"}
synonym: "radial-renal syndrome" RELATED [OMIM:179280]
synonym: "radio renal syndrome" RELATED [GARD:0000224]
xref: GARD:0000224 {source="MONDO:equivalentTo"}
xref: MESH:C536267 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179280 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo"}
xref: Orphanet:3015 {source="MONDO:equivalentTo", source="OMIM:179280"}
xref: SCTID:766765009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931146 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:3015"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:3015", source="Orphanet:3015/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867396
property_value: exactMatch http://identifiers.org/mesh/C536267
property_value: exactMatch http://identifiers.org/omim/179280
property_value: exactMatch http://identifiers.org/snomedct/766765009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931146
property_value: exactMatch Orphanet:3015
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome xsd:anyURI {source="GARD:0000224"}

[Term]
id: MONDO:0008360
name: obsolete radioulnar synostosis (disease)
is_obsolete: true
replaced_by: MONDO:0017985

[Term]
id: MONDO:0008361
name: radius, aplasia of, with cleft lip/palate
synonym: "radius, aplasia of, with cleft lip/palate" EXACT [OMIM:179400]
xref: OMIM:179400 {source="MONDO:equivalentTo"}
xref: UMLS:C1867395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/179400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867395

[Term]
id: MONDO:0008362
name: ragweed sensitivity
synonym: "ragweed sensitivity" EXACT [OMIM:179450]
xref: MESH:C566725 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179450 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867394
property_value: exactMatch http://identifiers.org/mesh/C566725
property_value: exactMatch http://identifiers.org/omim/179450

[Term]
id: MONDO:0008363
name: raindrop hypopigmentation
synonym: "raindrop hypopigmentation" EXACT [OMIM:179500]
xref: MESH:C566724 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179500 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867393
property_value: exactMatch http://identifiers.org/mesh/C566724
property_value: exactMatch http://identifiers.org/omim/179500

[Term]
id: MONDO:0008364
name: Raynaud disease
def: "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." [NCIT:P378]
synonym: "cold fingers, hereditary" RELATED [OMIM:179600]
synonym: "Raynaud disease" EXACT [OMIM:179600]
synonym: "Raynaud syndrome" EXACT [NCIT:C116359]
synonym: "Raynaud's disease" EXACT [CSP2005:0571-7333, DOID:10300, MTH:639, MTHICD9_2006:443.0, NCIT:C34972]
synonym: "Raynaud's syndrome" EXACT [DOID:10300, ICD9CM_2006:443.0]
synonym: "Raynaud's syndrome (disorder) [ambiguous]" EXACT [DOID:10300]
synonym: "secondary Raynaud disease" EXACT [NCIT:C116359]
synonym: "secondary Raynaud phenomenon" EXACT [NCIT:C116359]
synonym: "secondary Raynaud's disease" EXACT [NCIT:C116359]
synonym: "secondary Raynaud's phenomenon" EXACT [NCIT:C116359]
xref: COHD:314962 {source="MONDO:equivalentTo"}
xref: DOID:10300 {source="EFO:1001145", source="MONDO:equivalentTo"}
xref: EFO:1001145 {source="MONDO:equivalentTo"}
xref: ICD10:I73.0 {source="MONDO:equivalentTo", source="DOID:10300"}
xref: ICD9:443.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011928 {source="EFO:1001145", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:10300"}
xref: NCIT:C116359 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29"}
xref: OMIM:179600 {source="MONDO:equivalentTo", source="DOID:10300"}
xref: SCTID:195295006 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034734 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C116359", source="OMIM:179600", source="DOID:10300"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005294 {source="DOID:10300", source="EFO:1001145", source="MESH:D011928", source="NCIT:C116359/inferred"} ! peripheral vascular disease
property_value: closeMatch http://identifiers.org/snomedct/123266007
property_value: closeMatch http://identifiers.org/snomedct/22954002
property_value: closeMatch NCIT:C50724
property_value: exactMatch DOID:10300
property_value: exactMatch http://identifiers.org/mesh/D011928
property_value: exactMatch http://identifiers.org/omim/179600
property_value: exactMatch http://identifiers.org/snomedct/195295006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034734
property_value: exactMatch NCIT:C116359

[Term]
id: MONDO:0008365
name: recombinant 8 syndrome
def: "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." [Orphanet:96167]
subset: ordo_malformation_syndrome {source="Orphanet:96167"}
synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [OMIM:179613]
synonym: "Duplication 8q/deletion 8p" EXACT [Orphanet:96167]
synonym: "Rec(8) syndrome" EXACT [Orphanet:96167]
synonym: "Rec8 syndrome" EXACT [OMIM:179613, Orphanet:96167]
synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [OMIM:179613]
synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167]
synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698]
synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167]
xref: GARD:0009698 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q99.8 {source="Orphanet:96167", source="ORDO:96167/attributed", source="ORDO:96167/ntbt"}
xref: MESH:C535296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="ORDO:96167/e"}
xref: Orphanet:96167 {source="MONDO:equivalentTo", source="OMIM:179613"}
xref: SCTID:718189004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0795822 {source="Orphanet:96167", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179613"}
is_a: MONDO:0016998 {source="Orphanet:96167"} ! complex chromosomal rearrangement
property_value: exactMatch http://identifiers.org/mesh/C535296
property_value: exactMatch http://identifiers.org/omim/179613
property_value: exactMatch http://identifiers.org/snomedct/718189004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795822
property_value: exactMatch Orphanet:96167

[Term]
id: MONDO:0008366
name: red cell permeability defect
synonym: "elliptocytosis with transverse slitlike changes" RELATED [OMIM:179650]
synonym: "red cell permeability defect" EXACT [OMIM:179650]
xref: OMIM:179650 {source="MONDO:equivalentTo"}
xref: UMLS:C1867340 {source="OMIM:179650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/179650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867340

[Term]
id: MONDO:0008367
name: red cell phospholipid defect with hemolysis
subset: gard_rare {source="GARD:0010013"}
synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [OMIM:179700]
synonym: "HPCHA" RELATED [GARD:0010013]
synonym: "leaky Red cell syndrome" RELATED [OMIM:179700]
synonym: "phosphatidylcholine Red cell Membrane disorder" RELATED [OMIM:179700]
synonym: "red cell phospholipid defect with hemolysis" EXACT [OMIM:179700]
xref: GARD:0010013 {source="MONDO:equivalentTo"}
xref: MESH:C535298 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179700 {source="MONDO:equivalentTo"}
xref: UMLS:C1867339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179700"}
is_a: MONDO:0003847 {source="MESH:C535298/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535298
property_value: exactMatch http://identifiers.org/omim/179700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867339
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis xsd:anyURI {source="GARD:0010013"}

[Term]
id: MONDO:0008368
name: autosomal dominant distal renal tubular acidosis
def: "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." [Orphanet:93608]
subset: ordo_clinical_subtype {source="Orphanet:93608"}
synonym: "AD dRTA" EXACT [Orphanet:93608]
synonym: "autosomal dominant distal renal tubular acidosis (disease)" EXACT []
synonym: "autosomal dominant SLC4A1-associated distal renal tubular acidosis" RELATED [GARD:0004668]
synonym: "distal renal tubular acidosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "renal tubular acidosis 1" RELATED [OMIM:179800]
synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [OMIM:179800]
synonym: "RTA, classic type" RELATED [OMIM:179800]
synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800]
synonym: "RTA, gradient type" RELATED [OMIM:179800]
xref: GARD:0004668 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N25.8 {source="Orphanet:93608", source="ORDO:93608/attributed", source="ORDO:93608/ntbt"}
xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="ORDO:93608/e"}
xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:93608"} ! distal renal tubular acidosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C538565
property_value: exactMatch http://identifiers.org/omim/179800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931885
property_value: exactMatch Orphanet:93608

[Term]
id: MONDO:0008369
name: proximal renal tubular acidosis
def: "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." [Orphanet:47159]
subset: ordo_disease {source="Orphanet:47159"}
synonym: "pRTA" EXACT [Orphanet:47159]
synonym: "renal tubular acidosis 2" RELATED [OMIM:179830]
synonym: "renal tubular acidosis type 2" EXACT [Orphanet:47159]
synonym: "renal tubular acidosis, proximal" RELATED [OMIM:179830]
synonym: "RTA, proximal type" RELATED [OMIM:179830]
synonym: "RTA, rate type" RELATED [OMIM:179830]
synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
xref: ICD10:N25.8 {source="ORDO:47159/attributed", source="ORDO:47159/ntbt", source="Orphanet:47159"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037080 {source="ORDO:47159/e", source="Orphanet:47159"}
xref: OMIM:179830 {source="MONDO:equivalentTo", source="ORDO:47159/e", source="Orphanet:47159"}
xref: Orphanet:47159 {source="MONDO:equivalentTo", source="OMIM:179830"}
xref: SCTID:24790002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001909 {source="DC-OMIM:179830", source="MONDOLEX:0008369", source="linkedlifedata"} ! renal tubular acidosis
is_a: MONDO:0017828 {source="Orphanet:47159"} ! primary renal tubular acidosis
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268435
property_value: exactMatch http://identifiers.org/meddra/10037080
property_value: exactMatch http://identifiers.org/omim/179830
property_value: exactMatch http://identifiers.org/snomedct/24790002
property_value: exactMatch Orphanet:47159

[Term]
id: MONDO:0008370
name: reticular dystrophy of retinal pigment epithelium
synonym: "reticular dystrophy of retinal pigment epithelium" EXACT [OMIM:179840]
xref: MESH:C566721 {source="MONDO:equivalentTo"}
xref: OMIM:179840 {source="MONDO:equivalentTo"}
xref: SCTID:723502001 {source="MONDO:equivalentTo"}
xref: UMLS:C1867332 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179840"}
is_a: MONDO:0009979 {source="ORDO:99002/btnt"} ! reticular dystrophy of the retinal pigment epithelium
property_value: exactMatch http://identifiers.org/mesh/C566721
property_value: exactMatch http://identifiers.org/omim/179840
property_value: exactMatch http://identifiers.org/snomedct/723502001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867332

[Term]
id: MONDO:0008371
name: Dowling-Degos disease
def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [DOID:0060256, http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, http://ghr.nlm.nih.gov/condition/dowling-degos-disease]
subset: ordo_disease {source="Orphanet:79145"}
synonym: "dark dot disease" EXACT [DOID:0060256]
synonym: "DDD1" RELATED [MONDO:Lexical, OMIM:179850]
synonym: "Dowling-Degos disease 1" RELATED [MONDO:Lexical, OMIM:179850]
synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1, OMIM:179850]
synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775]
synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145]
xref: DOID:0060256 {source="MONDO:equivalentTo"}
xref: GARD:0009775 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L81.8 {source="ORDO:79145/attributed", source="ORDO:79145/ntbt", source="Orphanet:79145"}
xref: MedDRA:10068651 {source="ORDO:79145/e", source="Orphanet:79145"}
xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="DOID:0060256", source="MONDO:equivalentTo", source="OMIM:179850"}
is_a: MONDO:0000118 {source="DC-OMIM:179850", source="OMIM:179850"} ! reticulate pigment disorder
is_a: MONDO:0017747 {source="Orphanet:79145"} ! disorder of fucoglycosan synthesis
is_a: MONDO:0018293 {source="MONDO:Redundant", source="Orphanet:79145"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0019289 {source="Orphanet:79145"} ! hyperpigmentation of the skin
property_value: exactMatch DOID:0060256
property_value: exactMatch http://identifiers.org/meddra/10068651
property_value: exactMatch http://identifiers.org/mesh/C562924
property_value: exactMatch Orphanet:79145

[Term]
id: MONDO:0008372
name: retinal aplasia
synonym: "amaurosis congenita" RELATED [OMIM:179900]
synonym: "retinal aplasia" EXACT [OMIM:179900]
xref: MESH:C566720 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179900 {source="MONDO:equivalentTo"}
xref: UMLS:C1867331 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179900"}
is_a: MONDO:0018998 ! Leber congenital amaurosis
property_value: exactMatch http://identifiers.org/mesh/C566720
property_value: exactMatch http://identifiers.org/omim/179900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867331

[Term]
id: MONDO:0008373
name: retinal arterial tortuosity (disease)
subset: ordo_disease {source="Orphanet:75326"}
synonym: "RATOR" RELATED [MONDO:Lexical, OMIM:180000]
synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous]
synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical, OMIM:180000]
synonym: "retinal arteries, tortuosity OF; RATOR" RELATED [OMIM:180000]
synonym: "retinal arteriolar tortuosity" EXACT [Orphanet:75326]
synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326]
synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326]
xref: HP:0001136 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q14.1 {source="Orphanet:75326", source="ORDO:75326/inclusion", source="ORDO:75326/ntbt"}
xref: OMIM:180000 {source="ORDO:75326/e", source="Orphanet:75326", source="MONDO:equivalentTo"}
xref: Orphanet:75326 {source="MONDO:equivalentTo", source="OMIM:180000"}
is_a: MONDO:0018790 {source="Orphanet:75326"} ! COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867327
property_value: exactMatch http://identifiers.org/omim/180000
property_value: exactMatch Orphanet:75326

[Term]
id: MONDO:0008374
name: retinal cone dystrophy type 1
synonym: "cone dystrophy autosomal dominant" RELATED [GARD:0003196]
synonym: "cone dystrophy, autosomal dominant" RELATED [OMIM:180020]
synonym: "RCD1" RELATED [MONDO:Lexical, OMIM:180020]
synonym: "retinal cone Degeneration" RELATED [OMIM:180020]
synonym: "retinal cone dystrophy 1" RELATED [MONDO:Lexical, OMIM:180020]
synonym: "retinal cone dystrophy 1; RCD1" RELATED [OMIM:180020]
xref: GARD:0003196 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180020 {source="MONDO:equivalentTo"}
is_a: MONDO:0000455 {source="DC-OMIM:180020"} ! cone dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867326
property_value: exactMatch http://identifiers.org/mesh/C566719
property_value: exactMatch http://identifiers.org/omim/180020

[Term]
id: MONDO:0008375
name: retinal detachment
def: "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." [NCIT:P378]
synonym: "detached retina" EXACT [NCIT:C26874]
synonym: "retina, detached" EXACT [NCIT:C26874]
synonym: "retinal detachment" EXACT [OMIM:180050]
xref: COHD:378414 {source="MONDO:equivalentTo"}
xref: DOID:5327 {source="EFO:0005773", source="MONDO:equivalentTo"}
xref: EFO:0005773 {source="MONDO:equivalentTo"}
xref: ICD10:H33.2 {source="DOID:5327"}
xref: ICD9:361.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:361.9 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="i2s"}
xref: ICD9:362.40 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012163 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="MONDO:ontobio"}
xref: NCIT:C26874 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:180050 {source="MONDO:equivalentTo"}
xref: SCTID:42059000 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID_2010_1_31:155103005 {source="EFO:0005773"}
xref: SCTID_2010_1_31:193347002 {source="EFO:0005773"}
xref: SCTID_2010_1_31:42059000 {source="EFO:0005773"}
xref: UMLS:C0035305 {source="EFO:0005773", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C26874", source="DOID:5327", source="OMIM:180050"}
is_a: MONDO:0005283 {source="DOID:5327", source="MESH:D012163", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/omim/312530
property_value: closeMatch http://identifiers.org/snomedct/155103005
property_value: closeMatch http://identifiers.org/snomedct/193347002
property_value: exactMatch DOID:5327
property_value: exactMatch http://identifiers.org/mesh/D012163
property_value: exactMatch http://identifiers.org/omim/180050
property_value: exactMatch http://identifiers.org/snomedct/42059000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035305
property_value: exactMatch NCIT:C26874

[Term]
id: MONDO:0008376
name: retinal venous beading
synonym: "retinal venous beading" EXACT [OMIM:180080]
xref: OMIM:180080 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423397
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2939143
property_value: exactMatch http://identifiers.org/omim/180080

[Term]
id: MONDO:0008377
name: retinitis pigmentosa 1
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:268000]
synonym: "retinitis pigmentosa 1" EXACT [MONDO:Lexical, OMIM:180100]
synonym: "retinitis pigmentosa 1; RP1" RELATED [OMIM:180100]
synonym: "retinitis pigmentosa caused by mutation in RP1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 1" EXACT [DOID:0110390, MONDO:0009981, MONDORULE:1, OMIM:180100]
synonym: "retinitis pigmentosa; RP" RELATED [OMIM:268000]
synonym: "RP" RELATED [MONDO:Lexical, OMIM:268000]
synonym: "RP1" EXACT [DOID:0110390, MONDO:Lexical, OMIM:180100]
synonym: "RP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110390 {source="MONDO:equivalentTo"}
xref: GARD:0009149 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110390"}
xref: MESH:C538365 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180100 {source="DOID:0110390", source="MONDO:equivalentTo"}
xref: UMLS:C0220701 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180100"}
is_a: MONDO:0019200 {source="DC-OMIM:180100", source="DOID:0110390", source="MESH:C538365", source="MONDO:Redundant", source="OMIM:180100", source="OMIM:268000"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110390
property_value: exactMatch http://identifiers.org/mesh/C538365
property_value: exactMatch http://identifiers.org/omim/180100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220701

[Term]
id: MONDO:0008378
name: retinitis pigmentosa 9
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010382"}
synonym: "retinitis pigmentosa 9" EXACT [MONDO:Lexical, OMIM:180104]
synonym: "retinitis pigmentosa 9; RP9" RELATED [OMIM:180104]
synonym: "retinitis pigmentosa caused by mutation in RP9" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 9" EXACT [DOID:0110387, MONDORULE:1, OMIM:180104]
synonym: "RP 9" RELATED [GARD:0010382]
synonym: "RP9" EXACT [DOID:0110387, MONDO:Lexical, OMIM:180104]
synonym: "RP9 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110387 {source="MONDO:equivalentTo"}
xref: GARD:0010382 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110387"}
xref: MESH:C566716 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180104 {source="MONDO:equivalentTo", source="DOID:0110387"}
xref: UMLS:C1867300 {source="OMIM:180104", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:180104", source="DOID:0110387", source="MESH:C566716", source="MONDO:Redundant", source="OMIM:180104"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110387
property_value: exactMatch http://identifiers.org/mesh/C566716
property_value: exactMatch http://identifiers.org/omim/180104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867300
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9 xsd:anyURI {source="GARD:0010382"}

[Term]
id: MONDO:0008379
name: retinitis pigmentosa 10
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMPDH1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 10" EXACT [MONDO:Lexical, OMIM:180105]
synonym: "retinitis pigmentosa 10; RP10" RELATED [OMIM:180105]
synonym: "retinitis pigmentosa caused by mutation in IMPDH1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 10" EXACT [DOID:0110388, MONDORULE:2, OMIM:180105]
synonym: "RP10" EXACT [DOID:0110388, MONDO:Lexical, OMIM:180105]
xref: DOID:0110388 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110388"}
xref: MESH:C566715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180105 {source="MONDO:equivalentTo", source="DOID:0110388"}
xref: UMLS:C1867299 {source="NCBI:mim2gene_medline", source="OMIM:180105", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:180105", source="DOID:0110388", source="MESH:C566715", source="MONDO:Redundant", source="OMIM:180105"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110388
property_value: exactMatch http://identifiers.org/mesh/C566715
property_value: exactMatch http://identifiers.org/omim/180105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867299

[Term]
id: MONDO:0008380
name: retinoblastoma
def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C7541]
subset: ordo_disease {source="Orphanet:790"}
synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563]
synonym: "neuroblastoma of retina" EXACT EXCLUDE [DOID:768]
synonym: "RB" EXACT [DOID:768, NCIT:C7541]
synonym: "Rb" RELATED [OMIM:180200]
synonym: "RB - retinoblastoma" EXACT [DOID:768]
synonym: "RB1" RELATED [MONDO:Lexical, OMIM:180200]
synonym: "retinoblastoma" EXACT [MONDO:Lexical, OMIM:180200]
synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541]
synonym: "retinoblastoma; RB1" RELATED [OMIM:180200]
xref: DOID:768 {source="MONDO:equivalentTo"}
xref: GARD:0007563 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C69.2 {source="ORDO:790/e", source="Orphanet:790", source="ORDO:790/specific"}
xref: ICDO:9510/3 {source="NCIT:C7541"}
xref: MedDRA:10038916 {source="ORDO:790/e", source="Orphanet:790"}
xref: MESH:D012175 {source="DOID:768", source="MONDO:equivalentTo", source="ORDO:790/e", source="Orphanet:790"}
xref: NCIT:C7541 {source="DOID:768", source="MONDO:equivalentTo"}
xref: OMIM:180200 {source="DOID:768", source="MONDO:equivalentTo", source="ORDO:790/e", source="Orphanet:790"}
xref: ONCOTREE:RBL {source="MONDO:equivalentTo"}
xref: Orphanet:790 {source="OMIM:180200", source="MONDO:equivalentTo"}
xref: SCTID:370967009 {source="DOID:768", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0035335 {source="NCIT:C7541", source="DOID:768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:790/e", source="Orphanet:790"}
is_a: MONDO:0004338 {source="DOID:768", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinal cell cancer
relationship: excluded_subClassOf MONDO:0015966 {source="Orphanet:790"} ! obsolete hereditary eye tumor
relationship: excluded_subClassOf MONDO:0020238 {source="Orphanet:790"} ! inherited vitreous-retinal disease
property_value: closeMatch http://identifiers.org/snomedct/134191003
property_value: closeMatch http://identifiers.org/snomedct/154553002
property_value: closeMatch http://identifiers.org/snomedct/189934006
property_value: closeMatch http://identifiers.org/snomedct/189935007
property_value: closeMatch http://identifiers.org/snomedct/19906005
property_value: closeMatch http://identifiers.org/snomedct/269614001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0080113
property_value: exactMatch DOID:768
property_value: exactMatch http://identifiers.org/meddra/10038916
property_value: exactMatch http://identifiers.org/mesh/D012175
property_value: exactMatch http://identifiers.org/omim/180200
property_value: exactMatch http://identifiers.org/snomedct/370967009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035335
property_value: exactMatch NCIT:C7541
property_value: exactMatch Orphanet:790

[Term]
id: MONDO:0008381
name: dominant pericentral pigmentary retinopathy
def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." [DOID:0110420, PMID:3618160]
synonym: "retinopathy, pericentral pigmentary, dominant" RELATED [OMIM:180210]
xref: DOID:0110420 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110420"}
xref: MESH:C566713 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180210 {source="MONDO:equivalentTo", source="DOID:0110420"}
xref: UMLS:C1867261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180210"}
is_a: MONDO:0019200 {source="DOID:0110420", source="OMIM:180210"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110420
property_value: exactMatch http://identifiers.org/mesh/C566713
property_value: exactMatch http://identifiers.org/omim/180210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867261

[Term]
id: MONDO:0008382
name: retinoschisis, autosomal dominant
def: "Autosomal dominant form of retinoschisis." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:0009144"}
synonym: "autosomal dominant retinoschisis" EXACT []
synonym: "retinoschisis autosomal dominant" RELATED [GARD:0009144]
synonym: "retinoschisis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:180270]
xref: GARD:0009144 {source="MONDO:equivalentTo"}
xref: MESH:C000598640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180270 {source="MONDO:equivalentTo"}
xref: UMLS:C1867235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180270"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0004579 {source="DC-OMIM:180270", source="MESH:C000598640", source="MONDO:Redundant"} ! retinoschisis
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C000598640
property_value: exactMatch http://identifiers.org/omim/180270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant xsd:anyURI {source="GARD:0009144"}

[Term]
id: MONDO:0008383
name: rheumatoid arthritis
def: "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." [NCIT:C2884]
synonym: "arthritis or polyarthritis, rheumatic" EXACT [DOID:7148, MTHICD9_2006:714.0]
synonym: "arthritis, rheumatoid" EXACT [NCIT:C2884]
synonym: "atrophic arthritis" EXACT [DOID:7148, NCIT:C27206]
synonym: "autoimmune arthritis" EXACT []
synonym: "RA" EXACT [MONDO:Lexical, NCIT:C2884, OMIM:180300]
synonym: "rheumatoid arthritis" EXACT [MONDO:Lexical, NCIT:C2884, OMIM:180300]
synonym: "rheumatoid arthritis, susceptibility to" RELATED [OMIM:180300]
synonym: "rheumatoid arthritis; RA" RELATED [OMIM:180300]
xref: COHD:80809 {source="MONDO:equivalentTo"}
xref: DOID:7148 {source="MONDO:equivalentTo", source="EFO:0000685"}
xref: EFO:0000685 {source="DOID:7148", source="MONDO:equivalentTo"}
xref: ICD10:M06.9 {source="DOID:7148"}
xref: ICD9:714.0 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="i2s"}
xref: KEGG:05323 {source="DOID:7148", source="MONDO:equivalentTo"}
xref: MESH:D001172 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="MONDO:ontobio"}
xref: NCIT:C2884 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: OMIM:180300 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: SCTID:69896004 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="MONDO:kboom-pr-1.00/0.91/28.75"}
xref: UMLS:C0003873 {source="DOID:7148", source="OMIM:180300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C2884"}
is_a: MONDO:0000589 ! autoimmune disease of musculoskeletal system
is_a: MONDO:0005578 {source="DOID:7148", source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="MONDOLEX:0008383", source="NCIT:C2884", source="linkedlifedata"} ! arthritis
property_value: closeMatch http://identifiers.org/snomedct/156471009
property_value: closeMatch http://identifiers.org/snomedct/156481008
property_value: closeMatch http://identifiers.org/snomedct/287010008
property_value: closeMatch NCIT:C27206
property_value: closeMatch Orphanet:284130
property_value: exactMatch DOID:7148
property_value: exactMatch http://identifiers.org/mesh/D001172
property_value: exactMatch http://identifiers.org/omim/180300
property_value: exactMatch http://identifiers.org/snomedct/69896004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003873
property_value: exactMatch NCIT:C2884

[Term]
id: MONDO:0008384
name: rheumatoid nodulosis
def: "a particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules." [PMID:17041479]
subset: gard_rare {source="GARD:0009625"}
synonym: "accelerated rheumatoid nodulosis" EXACT [https://en.wikipedia.org/wiki/Rheumatoid_nodulosis, ISBN:1-4160-2999-0]
synonym: "rheumatoid nodulosis" EXACT [OMIM:180350]
xref: GARD:0009625 {source="MONDO:equivalentTo"}
xref: MESH:D012218 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180350 {source="MONDO:equivalentTo"}
xref: SCTID:402426007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: SCTID:402427003 {source="MONDO:equivalentTo"}
xref: UMLS:C1304215 {source="MONDO:equivalentTo"}
is_a: MONDO:0024280 {source="PMID:17041479"} ! polyarticular arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035450
property_value: exactMatch http://identifiers.org/mesh/D012218
property_value: exactMatch http://identifiers.org/omim/180350
property_value: exactMatch http://identifiers.org/snomedct/402426007
property_value: exactMatch http://identifiers.org/snomedct/402427003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304215
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis xsd:anyURI {source="GARD:0009625"}

[Term]
id: MONDO:0008385
name: rhiny
subset: n_of_one
synonym: "craniorhiny" RELATED [OMIM:180360]
synonym: "rhiny" EXACT [OMIM:180360]
xref: MESH:C566708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180360 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867222
property_value: exactMatch http://identifiers.org/mesh/C566708
property_value: exactMatch http://identifiers.org/omim/180360

[Term]
id: MONDO:0008386
name: Axenfeld-Rieger syndrome type 1
def: "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." [NCIT:C75015]
synonym: "Axenfeld-Rieger syndrome caused by mutation in PITX2" EXACT [MONDO:design_pattern]
synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical, OMIM:180500]
synonym: "Axenfeld-Rieger syndrome, type 1; RIEG1" RELATED [OMIM:180500]
synonym: "PITX2 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Rgs" RELATED [OMIM:180500]
synonym: "Rieg" RELATED [OMIM:180500]
synonym: "RIEG1" EXACT [DOID:0110120, MONDO:Lexical, OMIM:180500]
synonym: "Rieger syndrome type 1" EXACT [DOID:0110120]
synonym: "Rieger syndrome, type 1" RELATED [OMIM:180500]
xref: DOID:0110120 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="DOID:0110120"}
xref: NCIT:C75015 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.82"}
xref: OMIM:180500 {source="MONDO:equivalentTo", source="DOID:0110120"}
xref: UMLS:C3714873 {source="OMIM:180500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75015"}
is_a: MONDO:0007662 ! anterior segment dysgenesis 4
is_a: MONDO:0019187 {source="DC-OMIM:180500", source="DOID:0110120", source="MONDO:Redundant", source="MONDOLEX:0008386", source="OMIM:180500"} ! Axenfeld-Rieger syndrome
property_value: exactMatch DOID:0110120
property_value: exactMatch http://identifiers.org/omim/180500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714873
property_value: exactMatch NCIT:C75015

[Term]
id: MONDO:0008387
name: ring dermoid of cornea
def: "gene have been suggested as a potential cause of the condition." [Orphanet:91481]
subset: gard_rare {source="GARD:0009696"}
subset: ordo_disease {source="Orphanet:91481"}
synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" RELATED [GARD:0009696]
synonym: "RDC" RELATED [MONDO:Lexical, OMIM:180550]
synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550]
synonym: "RING dermoid of cornea; RDC" RELATED [OMIM:180550]
synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481]
xref: GARD:0009696 {source="MONDO:equivalentTo"}
xref: ICD10:D31.1 {source="Orphanet:91481", source="ORDO:91481/ntbt"}
xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:91481/e"}
xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="ORDO:91481/e"}
xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"}
xref: SCTID:723499000 {source="MONDO:equivalentTo"}
xref: UMLS:C1867155 {source="Orphanet:91481", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180550", source="ORDO:91481/e"}
is_a: MONDO:0021220 {source="MONDO:Entailed", source="Orphanet:91481"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535684
property_value: exactMatch http://identifiers.org/omim/180550
property_value: exactMatch http://identifiers.org/snomedct/723499000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867155
property_value: exactMatch Orphanet:91481
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea xsd:anyURI {source="GARD:0009696"}

[Term]
id: MONDO:0008388
name: ringed hair disease
def: "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." [Orphanet:169]
subset: ordo_disease {source="Orphanet:169"}
synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169]
synonym: "ringed hair" RELATED [OMIM:180600]
xref: GARD:0004359 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q84.1 {source="Orphanet:169", source="ORDO:169/index", source="ORDO:169/ntbt"}
xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:169/e"}
xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="ORDO:169/e"}
xref: Orphanet:169 {source="OMIM:180600", source="MONDO:equivalentTo"}
xref: SCTID:21926007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0263489 {source="Orphanet:169", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:180600", source="MONDO:equivalentTo", source="ORDO:169/e"}
is_a: MONDO:0019281 {source="Orphanet:169"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C537187
property_value: exactMatch http://identifiers.org/omim/180600
property_value: exactMatch http://identifiers.org/snomedct/21926007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263489
property_value: exactMatch Orphanet:169

[Term]
id: MONDO:0008389
name: autosomal dominant Robinow syndrome
def: "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:3107]
subset: ordo_clinical_subtype {source="Orphanet:3107"}
synonym: "autosomal dominant Robinow syndrome" EXACT [Orphanet:3107]
synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1]
xref: ICD10:Q87.1 {source="ORDO:3107/attributed", source="ORDO:3107/ntbt", source="Orphanet:3107", source="DOID:0060766"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"}
xref: SCTID:76520005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
xref: UMLS:CN203673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0019978 {source="DC-OMIM:180700", source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700", source="Orphanet:3107"} ! Robinow syndrome
property_value: exactMatch http://identifiers.org/snomedct/76520005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203673
property_value: exactMatch Orphanet:3107

[Term]
id: MONDO:0008390
name: Rombo syndrome
def: "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." [Orphanet:3110]
subset: gard_rare {source="GARD:0004738"}
subset: ordo_disease {source="Orphanet:3110"}
synonym: "Rombo syndrome" EXACT [OMIM:180730]
synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738]
xref: GARD:0004738 {source="MONDO:equivalentTo"}
xref: ICD10:L98.8 {source="ORDO:3110/attributed", source="ORDO:3110/ntbt", source="Orphanet:3110"}
xref: MESH:C535870 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3110", source="ORDO:3110/e"}
xref: OMIM:180730 {source="MONDO:equivalentTo", source="Orphanet:3110", source="ORDO:3110/e"}
xref: Orphanet:3110 {source="OMIM:180730", source="MONDO:equivalentTo"}
xref: SCTID:721904001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1867147 {source="OMIM:180730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3110", source="ORDO:3110/e"}
is_a: MONDO:0015950 {source="Orphanet:3110", source="indirect"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:3110"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/mesh/C535870
property_value: exactMatch http://identifiers.org/omim/180730
property_value: exactMatch http://identifiers.org/snomedct/721904001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867147
property_value: exactMatch Orphanet:3110
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome xsd:anyURI {source="GARD:0004738"}

[Term]
id: MONDO:0008391
name: Robinow-Sorauf syndrome
synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [OMIM:180750]
synonym: "craniosynostosis-bifid hallux syndrome" RELATED [OMIM:180750]
synonym: "Robinow-Sorauf syndrome" EXACT [OMIM:180750]
xref: MESH:C537183 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180750 {source="MONDO:equivalentTo"}
xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentTo"}
xref: UMLS:C1867146 {source="OMIM:180750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN203672 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537183
property_value: exactMatch http://identifiers.org/omim/180750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203672
property_value: exactMatch Orphanet:3106

[Term]
id: MONDO:0008392
name: Roussy-Levy syndrome
subset: ordo_disease {source="Orphanet:3115"}
synonym: "Charcot-Marie-Tooth disease (variant)" RELATED [GARD:0004741]
synonym: "Charcot-Marie-Tooth-Roussy-levy disease" RELATED [GARD:0004741]
synonym: "hereditary areflexic dystasia" RELATED [GARD:0004741]
synonym: "hereditary areflexic dystasia, Roussy-levy type" EXACT [Orphanet:3115]
synonym: "hereditary areflexic dystasia, Roussy-Lévy type" EXACT [Orphanet:3115]
synonym: "hereditary motor sensory neuropathy I" RELATED [GARD:0004741]
synonym: "HMSN I" RELATED [GARD:0004741]
synonym: "Roussy levy hereditary areflexic dystasia" RELATED [GARD:0004741]
synonym: "Roussy levy syndrome" RELATED [GARD:0004741]
synonym: "Roussy-levy disease" RELATED [GARD:0004741]
synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800]
synonym: "Roussy-levy syndrome" EXACT [OMIM:180800]
synonym: "Roussy-Lévy syndrome" RELATED [Orphanet:3115]
xref: GARD:0004741 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:3115", source="ORDO:3115/attributed", source="ORDO:3115/ntbt"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:180800 {source="ORDO:3115/e", source="Orphanet:3115", source="MONDO:equivalentTo"}
xref: Orphanet:3115 {source="MONDO:equivalentTo", source="OMIM:180800"}
xref: SCTID:45853006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.29"}
is_a: MONDO:0015359 {source="Orphanet:3115"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/omim/180800
property_value: exactMatch http://identifiers.org/snomedct/45853006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205713
property_value: exactMatch Orphanet:3115

[Term]
id: MONDO:0008393
name: Rubinstein-Taybi syndrome due to CREBBP mutations
def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:353277"}
synonym: "broad thumb-hallux syndrome" RELATED [OMIM:180849]
synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" RELATED [OMIM:180849]
synonym: "CREBBP Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RSTS" RELATED [OMIM:180849]
synonym: "RSTS1" EXACT [MONDO:Lexical, OMIM:180849]
synonym: "Rubinstein syndrome" RELATED [OMIM:180849]
synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849]
synonym: "Rubinstein-Taybi syndrome 1; RSTS1" EXACT [OMIM:180849]
synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT []
synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849]
xref: ICD10:Q87.2 {source="Orphanet:353277", source="ORDO:353277/attributed", source="ORDO:353277/ntbt"}
xref: NCIT:C153290 {source="MONDO:equivalentTo"}
xref: OMIM:180849 {source="Orphanet:353277", source="ORDO:353277/e", source="MONDO:equivalentTo"}
xref: Orphanet:353277 {source="MONDO:equivalentTo", source="OMIM:180849"}
is_a: MONDO:0019188 {source="DC-OMIM:180849", source="OMIM:180849", source="Orphanet:353277"} ! Rubinstein-Taybi syndrome
property_value: exactMatch http://identifiers.org/omim/180849
property_value: exactMatch NCIT:C153290
property_value: exactMatch Orphanet:353277

[Term]
id: MONDO:0008394
name: Silver-Russell syndrome
def: "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." [Orphanet:813]
subset: ordo_disease {source="Orphanet:813"}
synonym: "Russell Silver syndrome" EXACT [GARD:0004870]
synonym: "Russell-Silver dwarfism" EXACT [NCIT:C85068]
synonym: "Russell-Silver syndrome" EXACT [OMIM:180860]
synonym: "Silver Russell dwarfism" EXACT [DOID:14681]
synonym: "Silver Russell syndrome" EXACT [GARD:0004870]
synonym: "Silver-Russell dwarfism" EXACT [OMIM:180860, Orphanet:813]
synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860]
synonym: "Silver-Russell syndrome; SRS" EXACT [OMIM:180860]
synonym: "SRS" EXACT [MONDO:Lexical, OMIM:180860]
xref: DOID:14681 {source="MONDO:equivalentTo"}
xref: GARD:0004870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="DOID:14681", source="Orphanet:813", source="ORDO:813/ntbt", source="ORDO:813/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062282 {source="ORDO:813/e", source="Orphanet:813"}
xref: MESH:D056730 {source="ORDO:813/e", source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="MONDO:ontobio"}
xref: NCIT:C85068 {source="DOID:14681", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIMPS:180860 {source="MONDO:equivalentTo"}
xref: Orphanet:813 {source="OMIM:180860", source="MONDO:equivalentTo"}
xref: SCTID:15069006 {source="DOID:14681", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.44/0.12"}
xref: UMLS:C0175693 {source="OMIM:180860", source="ORDO:813/e", source="NCBI:mim2gene_medline", source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="NCIT:C85068"}
is_a: MONDO:0015329 {source="Orphanet:813", source="linkedlifedata/inferred"} ! malformation syndrome with short stature
is_a: MONDO:0015945 {source="Orphanet:813"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019040 {source="DOID:14681", source="MESH:D056730"} ! chromosomal anomaly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:813"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:14681
property_value: exactMatch http://identifiers.org/meddra/10062282
property_value: exactMatch http://identifiers.org/mesh/D056730
property_value: exactMatch http://identifiers.org/snomedct/15069006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175693
property_value: exactMatch NCIT:C85068
property_value: exactMatch Orphanet:813

[Term]
id: MONDO:0008395
name: Ruvalcaba syndrome
def: "Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." [Orphanet:3121]
subset: gard_rare {source="GARD:0004748"}
subset: ordo_malformation_syndrome {source="Orphanet:3121"}
synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870]
xref: GARD:0004748 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3121/attributed", source="ORDO:3121/ntbt", source="Orphanet:3121"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C579395 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:180870 {source="MONDO:equivalentTo", source="Orphanet:3121", source="ORDO:3121/e"}
xref: Orphanet:3121 {source="MONDO:equivalentTo", source="OMIM:180870"}
xref: SCTID:3073006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180870", source="Orphanet:3121", source="ORDO:3121/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3121"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:3121"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C579395
property_value: exactMatch http://identifiers.org/omim/180870
property_value: exactMatch http://identifiers.org/snomedct/3073006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265248
property_value: exactMatch Orphanet:3121
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome xsd:anyURI {source="GARD:0004748"}

[Term]
id: MONDO:0008396
name: oculodental syndrome, Rutherfurd type
def: "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." [Orphanet:2709]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2709"}
synonym: "corneal dystrophy with gum Hypertrophy" EXACT [OMIM:180900]
synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212]
synonym: "gingival hypertrophy corneal dystrophy" EXACT [GARD:0000212]
synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900]
synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709]
synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709]
xref: GARD:0000212 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2709", source="ORDO:2709/attributed", source="ORDO:2709/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2709/e"}
xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="ORDO:2709/e"}
xref: Orphanet:2709 {source="GARD:0000212", source="MONDO:equivalentTo", source="OMIM:180900"}
xref: SCTID:699754008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
xref: UMLS:C0796140 {source="Orphanet:2709", source="MEDGEN:kboom-pr97-c99", source="GARD:0000212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180900", source="ORDO:2709/e"}
is_a: MONDO:0015336 {source="Orphanet:2709"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0020215 {source="Orphanet:2709"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537732
property_value: exactMatch http://identifiers.org/omim/180900
property_value: exactMatch http://identifiers.org/snomedct/699754008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796140
property_value: exactMatch Orphanet:2709

[Term]
id: MONDO:0008397
name: aplasia of lacrimal and salivary glands
def: "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." [Orphanet:86815]
subset: ordo_disease {source="Orphanet:86815"}
synonym: "ALSG" EXACT [MONDO:Lexical, OMIM:180920, Orphanet:86815]
synonym: "aplasia of lacrimal and salivary glands" EXACT [MONDO:Lexical, OMIM:180920]
synonym: "aplasia of lacrimal and salivary glands; ALSG" RELATED [OMIM:180920]
synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [Orphanet:86815]
synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920]
synonym: "salivary glands, absence of" RELATED [OMIM:180920]
synonym: "salivary glands, absence of, include" RELATED [OMIM:180920]
xref: ICD10:Q10.4 {source="ORDO:86815/nd", source="ORDO:86815/attributed", source="Orphanet:86815"}
xref: ICD10:Q38.4 {source="ORDO:86815/nd", source="ORDO:86815/attributed", source="Orphanet:86815"}
xref: OMIM:180920 {source="MONDO:equivalentTo", source="ORDO:86815/e", source="Orphanet:86815"}
xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"}
xref: SCTID:715656004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020195 {source="Orphanet:86815"} ! excretory apparatus of the lacrimal system anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158667
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867059
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867060
property_value: exactMatch http://identifiers.org/omim/180920
property_value: exactMatch http://identifiers.org/snomedct/715656004
property_value: exactMatch Orphanet:86815

[Term]
id: MONDO:0008398
name: salivary substance, Clostridium botulinum type
synonym: "salivary substance, Clostridium botulinum type" EXACT [OMIM:180950]
xref: OMIM:180950 {source="MONDO:equivalentTo"}
xref: UMLS:C1867056 {source="OMIM:180950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/180950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867056

[Term]
id: MONDO:0008399
name: sarcoidosis, susceptibility to, 1
def: "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Boeck sarcoid" RELATED [OMIM:181000]
synonym: "HLA-DRB1 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sarcoidosis" BROAD [OMIM:181000]
synonym: "sarcoidosis caused by mutation in HLA-DRB1" EXACT [MONDO:design_pattern]
synonym: "sarcoidosis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:181000]
synonym: "sarcoidosis, susceptibility to, 1; SS1" RELATED [OMIM:181000]
synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:181000]
synonym: "SS1" RELATED [MONDO:Lexical, OMIM:181000]
synonym: "susceptibility to sarcoidosis 1" RELATED [OMIM:181000]
xref: ICD9:135 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:181000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0019338 ! sarcoidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2697310
property_value: exactMatch http://identifiers.org/omim/181000

[Term]
id: MONDO:0008400
name: salivary duct calculi
def: "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." [MESH:D012465]
synonym: "parotid duct calculi" RELATED [OMIM:181010]
synonym: "salivary duct calculi" EXACT [OMIM:181010]
synonym: "submandibular duct calculi" RELATED [OMIM:181010]
xref: MESH:D012465 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181010 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036089
property_value: exactMatch http://identifiers.org/mesh/D012465
property_value: exactMatch http://identifiers.org/omim/181010

[Term]
id: MONDO:0008401
name: pleomorphic adenoma
def: "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." [NCIT:P378]
subset: ordo_histopathological_subtype {source="Orphanet:454821"}
synonym: "mixed tumor of the salivary gland" EXACT [DOID:452, NCIT:C35691]
synonym: "pleomorphic adenoma" EXACT [DOID:452, NCIT:C8602]
synonym: "pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:452]
synonym: "pleomorphic salivary gland adenoma" RELATED [Orphanet:454821]
synonym: "Psa" RELATED [OMIM:181030]
synonym: "salivary gland adenoma, pleomorphic" RELATED [OMIM:181030]
synonym: "Sgpa" RELATED [OMIM:181030]
synonym: "tumor, mixed, benign" EXACT [NCIT:C8602]
xref: DOID:452 {source="MONDO:equivalentTo"}
xref: EFO:1000384 {source="MONDO:equivalentTo"}
xref: ICD10:D11.0 {source="MONDO:relatedTo", source="ORDO:454821/ntbt", source="Orphanet:454821"}
xref: ICDO:8940/0 {source="NCIT:C8602"}
xref: MESH:D008949 {source="MONDO:equivalentTo", source="DOID:452"}
xref: NCIT:C8602 {source="MONDO:kboom-pr-0.90/0.78/0.34", source="MONDO:equivalentTo", source="DOID:452"}
xref: OMIM:181030 {source="ORDO:454821/e", source="MONDO:equivalentTo", source="Orphanet:454821", source="DOID:452"}
xref: Orphanet:454821 {source="MONDO:equivalentTo"}
xref: SCTID:447888006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0000385 {source="DOID:452"} ! benign digestive system neoplasm
is_a: MONDO:0017168 {source="Orphanet:454821"} ! benign epithelial tumor of salivary glands
is_a: MONDO:0021043 {source="MESH:D008949", source="MONDOLEX:0008401", source="NCIT:C8602"} ! mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/8360001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026277
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1519176
property_value: closeMatch NCIT:C35691
property_value: exactMatch DOID:452
property_value: exactMatch http://identifiers.org/mesh/D008949
property_value: exactMatch http://identifiers.org/omim/181030
property_value: exactMatch http://identifiers.org/snomedct/447888006
property_value: exactMatch NCIT:C8602
property_value: exactMatch Orphanet:454821

[Term]
id: MONDO:0008402
name: cleft palate-large ears-small head syndrome
def: "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." [Orphanet:2013]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2013"}
synonym: "cleft palate large ears small head" RELATED [GARD:0000162]
synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162, OMIM:181180]
synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162]
synonym: "SAY syndrome" RELATED [OMIM:181180]
synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013]
xref: GARD:0000162 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2013", source="ORDO:2013/attributed", source="ORDO:2013/ntbt"}
xref: MESH:C536621 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181180 {source="ORDO:2013/e", source="Orphanet:2013", source="MONDO:equivalentTo", source="GARD:0000162"}
xref: Orphanet:2013 {source="MONDO:equivalentTo", source="OMIM:181180", source="GARD:0000162"}
xref: SCTID:763130006 {source="MONDO:equivalentTo"}
xref: UMLS:C1867023 {source="ORDO:2013/e", source="Orphanet:2013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181180", source="MEDGEN:kboom-pr92-c96", source="GARD:0000162"}
is_a: MONDO:0015335 {source="Orphanet:2013"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C536621
property_value: exactMatch http://identifiers.org/omim/181180
property_value: exactMatch http://identifiers.org/snomedct/763130006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867023
property_value: exactMatch Orphanet:2013

[Term]
id: MONDO:0008403
name: scalp defects-postaxial polydactyly syndrome
def: "Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A." [Orphanet:1003]
subset: ordo_malformation_syndrome {source="Orphanet:1003"}
synonym: "congenital scalp defects associated with postaxial polydactyly" RELATED [GARD:0000241]
synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250]
synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241]
xref: GARD:0000241 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1003", source="ORDO:1003/attributed", source="ORDO:1003/ntbt"}
xref: MESH:C536622 {source="ORDO:1003/e", source="Orphanet:1003", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181250 {source="ORDO:1003/e", source="Orphanet:1003", source="MONDO:equivalentTo"}
xref: Orphanet:1003 {source="MONDO:equivalentTo", source="OMIM:181250"}
xref: UMLS:C1867021 {source="ORDO:1003/e", source="NCBI:mim2gene_medline", source="Orphanet:1003", source="MONDO:equivalentTo", source="OMIM:181250"}
is_a: MONDO:0017434 {source="Orphanet:1003"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019294 {source="Orphanet:1003"} ! mixed dermis disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C536622
property_value: exactMatch http://identifiers.org/omim/181250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867021
property_value: exactMatch Orphanet:1003

[Term]
id: MONDO:0008404
name: scalp-ear-nipple syndrome
def: "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." [Orphanet:2036]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2036"}
synonym: "Finlay-Marks syndrome" EXACT [GARD:0000159, OMIM:181270, Orphanet:2036]
synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" RELATED [GARD:0000159]
synonym: "scalp ear nipple syndrome" RELATED [GARD:0000159]
synonym: "scalp-ear-nipple syndrome" EXACT [GARD:0000159, MONDO:Lexical, OMIM:181270]
synonym: "scalp-EAR-nipple syndrome; SENS" RELATED [OMIM:181270]
synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270]
synonym: "SENS" RELATED [MONDO:Lexical, OMIM:181270]
xref: GARD:0000159 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2036", source="ORDO:2036/attributed", source="ORDO:2036/ntbt"}
xref: MESH:C536623 {source="Orphanet:2036", source="ORDO:2036/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181270 {source="Orphanet:2036", source="ORDO:2036/e", source="MONDO:equivalentTo", source="GARD:0000159"}
xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source="OMIM:181270"}
xref: SCTID:721888002 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
is_a: MONDO:0015853 {source="Orphanet:2036"} ! deficient breast volume or number
is_a: MONDO:0019287 {source="Orphanet:2036", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019294 {source="Orphanet:2036"} ! mixed dermis disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2036"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536623
property_value: exactMatch http://identifiers.org/omim/181270
property_value: exactMatch http://identifiers.org/snomedct/721888002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867020
property_value: exactMatch Orphanet:2036

[Term]
id: MONDO:0008405
name: scapula, contour of vertebral border of
synonym: "scapula, contour of vertebral border of" EXACT [OMIM:181300]
xref: OMIM:181300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867019
property_value: exactMatch http://identifiers.org/omim/181300

[Term]
id: MONDO:0008406
name: autosomal recessive Emery-Dreifuss muscular dystrophy
def: "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_recessive]
subset: ordo_etiological_subtype {source="Orphanet:98855"}
synonym: "EDMD3" EXACT [Orphanet:98855]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98855", source="ORDO:98855/attributed", source="ORDO:98855/ntbt"}
xref: Orphanet:98855 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016830 {source="MONDO:Redundant", source="ORDO:261/btnt", source="Orphanet:98855"} ! Emery-Dreifuss muscular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1450051
property_value: exactMatch Orphanet:98855

[Term]
id: MONDO:0008407
name: neurogenic scapuloperoneal syndrome, Kaeser type
subset: gard_rare {source="GARD:0010312"}
subset: ordo_disease {source="Orphanet:85146"}
synonym: "Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146]
synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [OMIM:181400]
synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexical, OMIM:181400]
synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type; SCPNK" RELATED [OMIM:181400]
synonym: "SCPNK" RELATED [MONDO:Lexical, OMIM:181400]
synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146]
xref: GARD:0010312 {source="MONDO:equivalentTo"}
xref: ICD10:G12.1 {source="Orphanet:85146", source="ORDO:85146/inclusion", source="ORDO:85146/ntbt"}
xref: MESH:C566695 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="ORDO:85146/e"}
xref: Orphanet:85146 {source="OMIM:181400", source="MONDO:equivalentTo"}
xref: UMLS:C1867005 {source="OMIM:181400", source="Orphanet:85146", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: exactMatch http://identifiers.org/mesh/C566695
property_value: exactMatch http://identifiers.org/omim/181400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867005
property_value: exactMatch Orphanet:85146
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type xsd:anyURI {source="GARD:0010312"}

[Term]
id: MONDO:0008408
name: scapuloperoneal spinal muscular atrophy
subset: ordo_disease {source="Orphanet:431255"}
synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [OMIM:181405]
synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [Orphanet:431255]
synonym: "scapuloperoneal neuronopathy" EXACT [Orphanet:431255]
synonym: "scapuloperoneal spinal muscular atrophy" EXACT [MONDO:Lexical, OMIM:181405]
synonym: "scapuloperoneal spinal muscular atrophy; SPSMA" RELATED [OMIM:181405]
synonym: "SPSMA" EXACT [MONDO:Lexical, OMIM:181405, Orphanet:431255]
xref: EFO:1001992 {source="MONDO:equivalentTo"}
xref: GARD:0010314 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G12.1 {source="Orphanet:431255", source="ORDO:431255/inclusion", source="ORDO:431255/ntbt"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:181405 {source="ORDO:431255/e", source="Orphanet:431255", source="MONDO:equivalentTo"}
xref: Orphanet:431255 {source="MONDO:equivalentTo", source="OMIM:181405"}
xref: SCTID:230248006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.40"}
is_a: MONDO:0020128 {source="OMIM:181405/inferred", source="Orphanet:431255", source="Orphanet:431255/inferred"} ! motor neuron disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751335
property_value: exactMatch http://identifiers.org/omim/181405
property_value: exactMatch http://identifiers.org/snomedct/230248006
property_value: exactMatch Orphanet:431255

[Term]
id: MONDO:0008409
name: MYH7-related late-onset scapuloperoneal muscular dystrophy
subset: ordo_disease {source="Orphanet:437572"}
synonym: "MYH7-related late-onset scapuloperoneal syndrome" EXACT [Orphanet:437572]
synonym: "MYH7-related late-onset SPMD" EXACT [Orphanet:437572]
synonym: "MYH7-related scapuloperoneal myopathy" RELATED [GARD:0010313]
synonym: "scapuloperoneal muscular dystrophy" RELATED [OMIM:181430]
synonym: "scapuloperoneal myopathy, MYH7-related" RELATED [MONDO:Lexical, OMIM:181430]
synonym: "scapuloperoneal myopathy, MYH7-related; SPMM" RELATED [OMIM:181430]
synonym: "scapuloperoneal syndrome, myopathic type" RELATED [OMIM:181430]
synonym: "SPMD" RELATED [GARD:0010313]
synonym: "SPMM" RELATED [MONDO:Lexical, OMIM:181430]
xref: GARD:0010313 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:437572/attributed", source="ORDO:437572/ntbt", source="Orphanet:437572"}
xref: OMIM:181430 {source="MONDO:equivalentTo", source="ORDO:437572/e", source="Orphanet:437572"}
xref: Orphanet:437572 {source="MONDO:equivalentTo"}
xref: SCTID:129620000 {source="MONDO:kboom-pr-1.00/0.79/7.88", source="MONDO:equivalentTo"}
xref: UMLS:CN074265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000727 {source="DC-OMIM:181430", source="OMIM:181430"} ! scapuloperoneal myopathy
is_a: MONDO:0016195 {source="Orphanet:437572"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0018549 {source="Orphanet:437572"} ! late-onset scapuloperoneal muscular dystrophy with hyaline bodies
property_value: exactMatch http://identifiers.org/omim/181430
property_value: exactMatch http://identifiers.org/snomedct/129620000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074265
property_value: exactMatch Orphanet:437572

[Term]
id: MONDO:0008410
name: Scheuermann disease
def: "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." [NCIT:P378]
subset: ordo_malformation_syndrome {source="Orphanet:3135"}
synonym: "Calve's disease" EXACT [NCIT:C34999]
synonym: "familial Scheuermann disease" RELATED [Orphanet:3135]
synonym: "familial Scheuermann juvenile kyphosis" EXACT [Orphanet:3135]
synonym: "familial spinal osteochondrosis" EXACT [Orphanet:3135]
synonym: "juvenile kyphosis" RELATED [GARD:0007610]
synonym: "juvenile osteochondritis of the spine" EXACT [DOID:13300]
synonym: "juvenile osteochondrosis of Scheurermann" EXACT [DOID:13300, MTHICD9_2006:732.0]
synonym: "juvenile osteochondrosis of spine" EXACT [DOID:13300, ICD9CM_2006:732.0]
synonym: "Scheuermann disease" EXACT [DOID:13300, OMIM:181440]
synonym: "Scheuermann juvenile kyphosis" RELATED [OMIM:181440]
synonym: "Scheuermann kyphosis" RELATED [GARD:0007610]
synonym: "Scheuermann's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Scheuermann's kyphosis" EXACT [DOID:13300]
synonym: "Sherman's disease" EXACT [DOID:13300]
synonym: "spinal Osteochondrosis" RELATED [OMIM:181440]
xref: COHD:433565 {source="MONDO:equivalentTo"}
xref: DOID:13300 {source="MONDO:equivalentTo"}
xref: EFO:0008576 {source="MONDO:equivalentTo"}
xref: GARD:0007610 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M42.0 {source="Orphanet:3135", source="ORDO:3135/attributed", source="ORDO:3135/ntbt", source="DOID:13300"}
xref: ICD10:M42.00 {source="DOID:13300"}
xref: ICD9:732.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13300"}
xref: NCIT:C34999 {source="MONDO:equivalentTo", source="DOID:13300", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:181440 {source="ORDO:3135/e", source="Orphanet:3135", source="MONDO:equivalentTo", source="DOID:13300"}
xref: Orphanet:3135 {source="MONDO:equivalentTo", source="OMIM:181440"}
xref: SCTID:53406005 {source="MONDO:equivalentTo", source="DOID:13300", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0036310 {source="Orphanet:3135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181440", source="DOID:13300", source="NCIT:C34999"}
is_a: MONDO:0018385 {source="Orphanet:3135"} ! osteochondrosis of genetic origin
property_value: closeMatch http://identifiers.org/mesh/D012544
property_value: closeMatch http://identifiers.org/snomedct/156816000
property_value: closeMatch http://identifiers.org/snomedct/203361005
property_value: closeMatch http://identifiers.org/snomedct/203362003
property_value: closeMatch http://identifiers.org/snomedct/203364002
property_value: closeMatch http://identifiers.org/snomedct/203415006
property_value: exactMatch DOID:13300
property_value: exactMatch http://identifiers.org/omim/181440
property_value: exactMatch http://identifiers.org/snomedct/53406005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036310
property_value: exactMatch NCIT:C34999
property_value: exactMatch Orphanet:3135

[Term]
id: MONDO:0008411
name: ulnar-mammary syndrome
def: "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." [Orphanet:3138]
subset: gard_rare {source="GARD:0000118"}
subset: ordo_malformation_syndrome {source="Orphanet:3138"}
synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, Orphanet:3138]
synonym: "Schinzel syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138]
synonym: "ulnar-mammary syndrome" EXACT [MONDO:Lexical, OMIM:181450]
synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118]
synonym: "ulnar-mammary syndrome; ums" RELATED [OMIM:181450]
synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138]
xref: DOID:0060614 {source="MONDO:equivalentTo"}
xref: GARD:0000118 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.8 {source="Orphanet:3138", source="ORDO:3138/attributed", source="ORDO:3138/ntbt", source="DOID:0060614"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536937 {source="Orphanet:3138", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614", source="MONDO:ontobio"}
xref: OMIM:181450 {source="Orphanet:3138", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614"}
xref: Orphanet:3138 {source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"}
xref: SCTID:700211007 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"}
xref: UMLS:C1866994 {source="Orphanet:3138", source="NCBI:mim2gene_medline", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"}
is_a: MONDO:0015246 {source="Orphanet:3138"} ! syndromic anorectal malformation
is_a: MONDO:0015853 {source="Orphanet:3138"} ! deficient breast volume or number
is_a: MONDO:0017432 {source="Orphanet:3138"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:3138", source="Orphanet:3138/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:3138"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060614
property_value: exactMatch http://identifiers.org/mesh/C536937
property_value: exactMatch http://identifiers.org/omim/181450
property_value: exactMatch http://identifiers.org/snomedct/700211007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866994
property_value: exactMatch Orphanet:3138
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome xsd:anyURI {source="GARD:0000118"}

[Term]
id: MONDO:0008412
name: intestinal schistosomiasis
def: "An intestinal infection that is caused by Schistosoma japonicum." [NCIT:C35001]
synonym: "Katayama fever" EXACT [DOID:0050597]
synonym: "Schistosoma japonicum infection" EXACT EXCLUDE [DOID:0050597]
synonym: "Schistosoma mansoni infection, susceptibility/resistance to" RELATED [OMIM:181460]
synonym: "Schistosoma mansoni infectious disease" EXACT EXCLUDE [DOID:0050597]
synonym: "Schistosoma mansoni, intensity of infection by" RELATED [OMIM:181460]
synonym: "schistosomiasis japonica" EXACT [DOID:0050597]
xref: DOID:0050597 {source="MONDO:equivalentTo"}
xref: EFO:1001419 {source="MONDO:equivalentTo"}
xref: ICD10:B65.1 {source="DOID:0050597"}
xref: ICD10:B65.2 {source="DOID:0050597"}
xref: ICD9:120.1 {source="DOID:0050597"}
xref: ICD9:120.2 {source="DOID:0050597"}
xref: OMIM:181460 {source="DOID:0050597", source="MONDO:equivalentTo"}
xref: SCTID:240796008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="DOID:0050597", source="MONDO:Redundant", source="linkedlifedata"} ! schistosomiasis
is_a: MONDO:0024271 ! intestinal helminthiasis
property_value: closeMatch http://identifiers.org/snomedct/187114003
property_value: closeMatch http://identifiers.org/snomedct/6421008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036329
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036330
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866993
property_value: exactMatch DOID:0050597
property_value: exactMatch http://identifiers.org/omim/181460
property_value: exactMatch http://identifiers.org/snomedct/240796008

[Term]
id: MONDO:0008413
name: obsolete schizophrenia
is_obsolete: true
replaced_by: MONDO:0005090

[Term]
id: MONDO:0008414
name: SCZD1
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." [DOID:0070077]
synonym: "schizophrenia 1" RELATED [MONDO:Lexical, OMIM:181510]
synonym: "schizophrenia 1 with or without an affective disorder" RELATED [OMIM:181510]
synonym: "schizophrenia 1; SCZD1" RELATED [OMIM:181510]
synonym: "schizophrenia susceptibility locus, chromosome 5-related" RELATED [OMIM:181510]
synonym: "SCZD1" EXACT [DOID:0070077, MONDO:Lexical, OMIM:181510]
xref: DOID:0070077 {source="MONDO:equivalentTo"}
xref: OMIM:181510 {source="DOID:0070077", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:181510", source="DOID:0070077"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220702
property_value: exactMatch DOID:0070077
property_value: exactMatch http://identifiers.org/omim/181510

[Term]
id: MONDO:0008415
name: obsolete Scholte syndrome
comment: Replaced by https://omim.org/entry/300977 in OMIM
is_obsolete: true
replaced_by: MONDO:0010505

[Term]
id: MONDO:0008416
name: palmoplantar keratoderma-sclerodactyly syndrome
subset: gard_rare {source="GARD:0008517"}
subset: ordo_disease {source="Orphanet:384"}
synonym: "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" RELATED [GARD:0008517]
synonym: "HRZ" RELATED [GARD:0008517]
synonym: "Huriez syndrome" EXACT [OMIM:181600, Orphanet:384]
synonym: "HURIEZ syndrome; HRZ" RELATED [OMIM:181600]
synonym: "palmoplantar hyperkeratosis-sclerodactyly syndrome" EXACT [Orphanet:384]
synonym: "Scleroatrophic and keratotic dermatosis of limbs" RELATED [OMIM:181600]
synonym: "Scleroatrophic syndrome" EXACT [Orphanet:384]
synonym: "SCLEROTYLOSIS" RELATED [OMIM:181600]
synonym: "Sclerotylosis" EXACT [Orphanet:384]
synonym: "Tys" RELATED [OMIM:181600]
xref: GARD:0008517 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:384/attributed", source="ORDO:384/ntbt", source="Orphanet:384"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537526 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181600 {source="MONDO:equivalentTo", source="ORDO:384/e", source="Orphanet:384"}
xref: Orphanet:384 {source="OMIM:181600", source="MONDO:equivalentTo"}
xref: SCTID:239076000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.96"}
is_a: MONDO:0020094 {source="Orphanet:384"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406767
property_value: exactMatch http://identifiers.org/mesh/C537526
property_value: exactMatch http://identifiers.org/omim/181600
property_value: exactMatch http://identifiers.org/snomedct/239076000
property_value: exactMatch Orphanet:384
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome xsd:anyURI {source="GARD:0008517"}

[Term]
id: MONDO:0008417
name: sclerocornea, autosomal dominant
synonym: "sclerocornea, autosomal dominant" EXACT [OMIM:181700]
xref: MESH:C566692 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:181700 {source="MONDO:equivalentTo"}
is_a: MONDO:0019629 {source="ORDO:91490/btnt"} ! sclerocornea (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866984
property_value: exactMatch http://identifiers.org/mesh/C566692
property_value: exactMatch http://identifiers.org/omim/181700

[Term]
id: MONDO:0008418
name: scleroderma, familial progressive
synonym: "Crest syndrome" RELATED [OMIM:181750]
synonym: "scleroderma, familial progressive" EXACT [OMIM:181750]
synonym: "systemic sclerosis, susceptibility to" RELATED [OMIM:181750]
xref: OMIM:181750 {source="MONDO:equivalentTo"}
xref: UMLS:C1866983 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181750"}
is_a: MONDO:0005100 {source="MONDOLEX:0008418", source="OMIM:181750", source="ORDO:90291/btnt"} ! systemic sclerosis
property_value: exactMatch http://identifiers.org/omim/181750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866983

[Term]
id: MONDO:0008419
name: scoliosis, isolated, susceptibility to, 1
subset: predisposition
synonym: "adolescent idiopathic scoliosis" RELATED [OMIM:181800]
synonym: "adolescent isolated scoliosis" RELATED [OMIM:181800]
synonym: "IS1" EXACT [MONDO:Lexical, OMIM:181800]
synonym: "scoliosis, isolated, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:181800]
synonym: "scoliosis, isolated, susceptibility to, 1; IS1" EXACT [OMIM:181800]
xref: OMIM:181800 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700406
property_value: exactMatch http://identifiers.org/omim/181800

[Term]
id: MONDO:0008420
name: seborrheic keratosis
def: "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." [NCIT:P378]
synonym: "basal cell papilloma" EXACT [NCIT:C9006]
synonym: "keratosis Seborrheica" EXACT [NCIT:C9006]
synonym: "keratosis, seborrheic" RELATED [OMIM:182000]
xref: DOID:6498 {source="MONDO:equivalentTo", source="EFO:0005584"}
xref: EFO:0005584 {source="MONDO:equivalentTo"}
xref: GARD:0003108 {source="MONDO:equivalentTo"}
xref: ICD10:L82 {source="DOID:6498", source="MONDO:equivalentTo"}
xref: ICD10:L82.1 {source="DOID:6498"}
xref: ICD9:702.1 {source="DOID:6498", source="EFO:0005584"}
xref: MESH:D017492 {source="DOID:6498", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0005584"}
xref: NCIT:C9006 {source="DOID:6498", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0005584"}
xref: OMIM:182000 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"}
xref: UMLS:C0022603 {source="DOID:6498", source="NCIT:C9006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182000"}
xref: Wikipedia:Seborrheic_keratosis {source="EFO:0005584"}
is_a: MONDO:0006566 {source="DOID:6498", source="MESH:D017492"} ! keratosis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/156400006
property_value: closeMatch http://identifiers.org/snomedct/201096007
property_value: closeMatch http://identifiers.org/snomedct/201107006
property_value: closeMatch http://identifiers.org/snomedct/25499005
property_value: closeMatch http://identifiers.org/snomedct/267860005
property_value: closeMatch http://identifiers.org/snomedct/394726009
property_value: closeMatch http://identifiers.org/snomedct/50563003
property_value: exactMatch DOID:6498
property_value: exactMatch http://identifiers.org/mesh/D017492
property_value: exactMatch http://identifiers.org/omim/182000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022603
property_value: exactMatch NCIT:C9006

[Term]
id: MONDO:0008421
name: flat face-microstomia-ear anomaly syndrome
def: "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." [Orphanet:1968]
subset: ordo_malformation_syndrome {source="Orphanet:1968"}
synonym: "blepharophimosis-telecanthus-microstomia syndrome" EXACT [Orphanet:1968]
synonym: "Simosa cranio facial syndrome" RELATED [GARD:0004873]
synonym: "SIMOSA craniofacial syndrome" RELATED [OMIM:182150]
synonym: "Simosa-Penchaszadeh-Bustos syndrome" EXACT [Orphanet:1968]
xref: GARD:0004873 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:1968/attributed", source="ORDO:1968/ntbt", source="Orphanet:1968"}
xref: MESH:C537339 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182150 {source="MONDO:equivalentTo", source="ORDO:1968/e", source="Orphanet:1968"}
xref: Orphanet:1968 {source="MONDO:equivalentTo", source="OMIM:182150"}
xref: UMLS:C1866962 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182150", source="ORDO:1968/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1968"}
is_a: MONDO:0043008 {source="Orphanet:1968"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537339
property_value: exactMatch http://identifiers.org/omim/182150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866962
property_value: exactMatch Orphanet:1968

[Term]
id: MONDO:0008422
name: autosomal dominant sideroblastic anemia
def: "Autosomal dominant form of sideroblastic anemia." [MONDO:patterns/autosomal_dominant]
synonym: "anemia, sideroblastic, 4" RELATED [OMIM:182170]
synonym: "anemia, sideroblastic, 4; SIDBA4" RELATED [OMIM:182170]
synonym: "anemia, sideroblastic, autosomal dominant" RELATED [OMIM:182170]
synonym: "SIDBA4" RELATED [OMIM:182170]
synonym: "sideroblastic anemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0060335 {source="MONDO:equivalentTo"}
xref: MESH:C567160 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182170 {source="MONDO:equivalentTo", source="DOID:0060335"}
xref: UMLS:C2674249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182170"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015194 {source="DC-OMIM:182170", source="DOID:0060335", source="MESH:C567160", source="MONDO:Redundant", source="MONDOLEX:0008422", source="OMIM:182170"} ! sideroblastic anemia
property_value: exactMatch DOID:0060335
property_value: exactMatch http://identifiers.org/mesh/C567160
property_value: exactMatch http://identifiers.org/omim/182170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674249

[Term]
id: MONDO:0008423
name: sinus node disease and myopia
subset: gard_rare {source="GARD:0004880"}
synonym: "sick sinus syndrome and myopia" RELATED [OMIM:182190]
synonym: "sinus node disease and myopia" EXACT [OMIM:182190]
synonym: "Sss-myopia syndrome" RELATED [OMIM:182190]
xref: GARD:0004880 {source="MONDO:equivalentTo"}
xref: MESH:C566690 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182190 {source="MONDO:equivalentTo"}
xref: UMLS:C1866960 {source="NCBI:mim2gene_medline", source="OMIM:182190", source="MONDO:equivalentTo"}
is_a: MONDO:0012061 {source="ORDO:166282/btnt"} ! familial sick sinus syndrome
property_value: exactMatch http://identifiers.org/mesh/C566690
property_value: exactMatch http://identifiers.org/omim/182190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866960
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia xsd:anyURI {source="GARD:0004880"}

[Term]
id: MONDO:0008424
name: sella turcica, bridged
synonym: "sella turcica, bridged" EXACT [OMIM:182200]
xref: MESH:C566689 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866959
property_value: exactMatch http://identifiers.org/mesh/C566689
property_value: exactMatch http://identifiers.org/omim/182200

[Term]
id: MONDO:0008425
name: omphalocele syndrome, Shprintzen-Goldberg type
def: "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." [Orphanet:3164]
subset: ordo_malformation_syndrome {source="Orphanet:3164"}
synonym: "laryngeal and pharyngeal hypoplasia with omphalocele" RELATED [GARD:0009850]
synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [OMIM:182210]
synonym: "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies" RELATED [GARD:0009850]
synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210]
synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210]
synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850]
xref: GARD:0009850 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.2 {source="ORDO:3164/attributed", source="ORDO:3164/ntbt", source="Orphanet:3164"}
xref: MESH:C537329 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182210 {source="MONDO:equivalentTo", source="ORDO:3164/e", source="Orphanet:3164"}
xref: Orphanet:3164 {source="MONDO:equivalentTo", source="OMIM:182210"}
xref: SCTID:716230005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C1866958 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182210", source="Orphanet:3164"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3164", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3164"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:3164"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: exactMatch http://identifiers.org/mesh/C537329
property_value: exactMatch http://identifiers.org/omim/182210
property_value: exactMatch http://identifiers.org/snomedct/716230005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866958
property_value: exactMatch Orphanet:3164

[Term]
id: MONDO:0008426
name: Shprintzen-Goldberg syndrome
def: "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." [Orphanet:2462]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:2462"}
synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [OMIM:182212]
synonym: "Marfanoid craniosynostosis syndrome" EXACT [OMIM:182212, Orphanet:2462]
synonym: "Marfanoid disorder with craniosynostosis type 1" RELATED [GARD:0004861]
synonym: "Marfanoid disorder with craniosynostosis, type 1" RELATED [OMIM:182212]
synonym: "Marfanoid-craniosynostosis syndrome" RELATED [GARD:0004861]
synonym: "SGS" EXACT [Orphanet:2462]
synonym: "SGS" RELATED [MONDO:Lexical, OMIM:182212]
synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, OMIM:182212]
synonym: "Shprintzen-Goldberg craniosynostosis syndrome; SGS" RELATED [OMIM:182212]
synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861]
xref: GARD:0004861 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2462", source="ORDO:2462/attributed", source="ORDO:2462/ntbt"}
xref: NCIT:C124840 {source="MONDO:equivalentTo"}
xref: OMIM:182212 {source="Orphanet:2462", source="MONDO:equivalentTo", source="ORDO:2462/e"}
xref: Orphanet:2462 {source="MONDO:equivalentTo", source="OMIM:182212"}
xref: SCTID:719069008 {source="MONDO:kboom-pr-1.00/0.79/8.42", source="MONDO:equivalentTo"}
xref: UMLS:C1321551 {source="Orphanet:2462", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182212", source="ORDO:2462/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2462", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2462"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2462"} ! syndromic craniosynostosis
is_a: MONDO:0017310 {source="Orphanet:2462"} ! Marfan and Marfan-related disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537328
property_value: exactMatch http://identifiers.org/omim/182212
property_value: exactMatch http://identifiers.org/snomedct/719069008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321551
property_value: exactMatch NCIT:C124840
property_value: exactMatch Orphanet:2462

[Term]
id: MONDO:0008427
name: sister chromatid exchange, frequency of
synonym: "SCE, frequency of" RELATED [OMIM:182220]
synonym: "sister chromatid exchange, frequency of" EXACT [OMIM:182220]
xref: OMIM:182220 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866942
property_value: exactMatch http://identifiers.org/omim/182220

[Term]
id: MONDO:0008428
name: septooptic dysplasia
def: "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." [Orphanet:3157]
subset: ordo_malformation_syndrome {source="Orphanet:3157"}
synonym: "De Morsier syndrome" EXACT [DOID:0060857, OMIM:182230, Orphanet:3157]
synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [OMIM:182230]
synonym: "hypopituitarism and septooptic 'dysplasia'" RELATED [GARD:0007627]
synonym: "pituitary hormone deficiency, combined, 5" RELATED [OMIM:182230]
synonym: "septo-optic dysplasia" EXACT [DOID:0060857, Orphanet:3157]
synonym: "septo-optic dysplasia sequence" EXACT [NCIT:C85063]
synonym: "septo-optic dysplasia spectrum" RELATED [Orphanet:3157]
synonym: "septo-optic dysplasia with growth hormone deficiency" RELATED [GARD:0007627]
synonym: "septooptic dysplasia" EXACT [OMIM:182230]
synonym: "SOD" EXACT [DOID:0060857, Orphanet:3157]
xref: DOID:0060857 {source="MONDO:equivalentTo"}
xref: GARD:0007627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.8 {source="Orphanet:3157", source="DOID:0060857", source="ORDO:3157/attributed", source="ORDO:3157/ntbt"}
xref: MedDRA:10067159 {source="ORDO:3157/e", source="Orphanet:3157"}
xref: MESH:D025962 {source="ORDO:3157/e", source="Orphanet:3157", source="MONDO:equivalentTo", source="DOID:0060857"}
xref: NCIT:C85063 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.80"}
xref: OMIM:182230 {source="ORDO:3157/e", source="Orphanet:3157", source="MONDO:equivalentTo", source="DOID:0060857"}
xref: Orphanet:3157 {source="MONDO:equivalentTo", source="DOID:0060857", source="OMIM:182230"}
xref: SCTID:7611002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C0338503 {source="ORDO:3157/e", source="Orphanet:3157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85063", source="DOID:0060857", source="OMIM:182230"}
is_a: MONDO:0000429 {source="DOID:0060857"} ! autosomal genetic disease
is_a: MONDO:0013099 {source="MONDOLEX:0008428", source="OMIM:182230", source="ORDO:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157"} ! syndromic developmental defect of the eye
is_a: MONDO:0015310 {source="Orphanet:3157"} ! syndromic optic nerve hypoplasia
is_a: MONDO:0017120 {source="Orphanet:3157"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0018609 ! syndromic hereditary optic neuropathy
is_a: MONDO:0019827 {source="Orphanet:3157"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0020149 {source="Orphanet:3157"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0020262 {source="Orphanet:3157"} ! nervous system anomaly with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750027
property_value: exactMatch DOID:0060857
property_value: exactMatch http://identifiers.org/meddra/10067159
property_value: exactMatch http://identifiers.org/mesh/D025962
property_value: exactMatch http://identifiers.org/omim/182230
property_value: exactMatch http://identifiers.org/snomedct/7611002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338503
property_value: exactMatch NCIT:C85063
property_value: exactMatch Orphanet:3157

[Term]
id: MONDO:0008429
name: singleton-Merten dysplasia
def: "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." [Orphanet:85191]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:85191"}
synonym: "Merten-singleton syndrome" RELATED [GARD:0000122]
synonym: "SGMRT1" RELATED [MONDO:Lexical, OMIM:182250]
synonym: "singleton Merten syndrome" RELATED [GARD:0000122]
synonym: "singleton-Merten syndrome" EXACT [Orphanet:85191]
synonym: "SM syndrome" RELATED [GARD:0000122]
synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122]
synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122]
xref: DC:0000703 {source="MONDO:equivalentTo"}
xref: GARD:0000122 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:85191/attributed", source="ORDO:85191/ntbt", source="Orphanet:85191"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537343 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:182250 {source="MONDO:equivalentTo", source="DC:0000703"}
xref: Orphanet:85191 {source="GARD:0000122", source="MONDO:equivalentTo", source="OMIM:182250"}
xref: SCTID:254114000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432254 {source="GARD:0000122", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:182250", source="Orphanet:85191"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015710 {source="Orphanet:85191"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0018782 {source="Orphanet:85191"} ! type 1 interferonopathy
is_a: MONDO:0019704 {source="Orphanet:85191"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C537343
property_value: exactMatch http://identifiers.org/snomedct/254114000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432254
property_value: exactMatch Orphanet:85191

[Term]
id: MONDO:0008430
name: skeletal dysplasia with delayed epiphyseal and carpal bone ossification
synonym: "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" EXACT [OMIM:182255]
xref: MESH:C566687 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182255 {source="MONDO:equivalentTo"}
xref: UMLS:C1866939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182255"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566687
property_value: exactMatch http://identifiers.org/omim/182255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866939

[Term]
id: MONDO:0008431
name: slipped femoral capital epiphyses
def: "A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip." [MESH:D060048]
synonym: "epiphysiolysis capitis femoris" RELATED [OMIM:182260]
synonym: "slipped femoral capital epiphyses" EXACT [OMIM:182260]
xref: MESH:D060048 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182260 {source="MONDO:equivalentTo"}
xref: UMLS:C0149887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182260"}
is_a: MONDO:0003847 {source="MESH:D060048/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/D060048
property_value: exactMatch http://identifiers.org/omim/182260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149887

[Term]
id: MONDO:0008432
name: ketone compounds, ability to smell
synonym: "ketone compounds, ability to smell" EXACT [OMIM:182270]
xref: OMIM:182270 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866938
property_value: exactMatch http://identifiers.org/omim/182270

[Term]
id: MONDO:0008433
name: small cell lung carcinoma
def: "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." [Orphanet:70573]
subset: ordo_disease {source="Orphanet:70573"}
synonym: "lung oat cell carcinoma" EXACT [NCIT:C4917]
synonym: "lung small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "lung small cell neuroendocrine carcinoma" EXACT [NCIT:C4917]
synonym: "oat cell carcinoma of lung" EXACT [NCIT:C4917]
synonym: "oat cell carcinoma of the lung" EXACT [NCIT:C4917]
synonym: "oat cell lung carcinoma" EXACT [NCIT:C4917]
synonym: "SCLC" BROAD [CSP2005:2017-6589, DOID:5409, NCIT:C4917, OMIM:182280, Orphanet:70573]
synonym: "SCLC1" RELATED [OMIM:182280]
synonym: "small cell cancer of the lung" RELATED [OMIM:182280]
synonym: "small cell carcinoma of lung" EXACT [DOID:5409, NCIT:C4917]
synonym: "small cell carcinoma of the lung" EXACT [NCIT:C4917]
synonym: "small cell lung cancer" EXACT [NCIT:C4917]
synonym: "small cell lung carcinoma" EXACT [NCIT:C4917]
synonym: "small cell neuroendocrine carcinoma of lung" EXACT [DOID:5409, NCIT:C4917]
synonym: "small cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C4917]
xref: DOID:5409 {source="MONDO:equivalentTo", source="EFO:0000702"}
xref: EFO:0000702 {source="MONDO:equivalentTo"}
xref: ICD10:C34.9 {source="Orphanet:70573", source="ORDO:70573/ntbt"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:05222 {source="MONDO:equivalentTo", source="DOID:5409"}
xref: MESH:D055752 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: NCIT:C4917 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: OMIM:182280 {source="ORDO:70573/e", source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: ONCOTREE:SCLC {source="MONDO:equivalentTo"}
xref: Orphanet:70573 {source="MONDO:equivalentTo", source="OMIM:182280"}
xref: SCTID:254632001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.06", source="DOID:5409", source="EFO:0000702"}
xref: UMLS:CN244903 {source="MONDO:equivalentTo"}
is_a: MONDO:0000402 {source="DOID:5409", source="MONDO:Redundant", source="MONDOLEX:0008433", source="NCIT:C4917", source="linkedlifedata"} ! small cell carcinoma
is_a: MONDO:0005138 {source="DOID:5409", source="EFO:0000702", source="MONDO:Redundant", source="MONDOLEX:0008433", source="NCIT:C4917"} ! lung carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C4917/inferred", source="ONCOTREE:SCLC", source="OWLReasoner:2017"} ! lung neuroendocrine neoplasm
is_a: MONDO:0015119 {source="Orphanet:70573"} ! bronchopulmonary tumor
property_value: closeMatch http://identifiers.org/snomedct/74364000
property_value: closeMatch http://identifiers.org/snomedct/76817009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149925
property_value: exactMatch DOID:5409
property_value: exactMatch http://identifiers.org/mesh/D055752
property_value: exactMatch http://identifiers.org/omim/182280
property_value: exactMatch http://identifiers.org/snomedct/254632001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244903
property_value: exactMatch NCIT:C4917
property_value: exactMatch Orphanet:70573

[Term]
id: MONDO:0008434
name: Smith-Magenis syndrome
def: "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." [Orphanet:819]
subset: ordo_malformation_syndrome {source="Orphanet:819"}
synonym: "17p11.2 microdeletion syndrome" EXACT [DOID:0060768, Orphanet:819]
synonym: "chromosome 17P11.2 deletion syndrome" RELATED [OMIM:182290]
synonym: "chromosome 17p11.2 deletion syndrome" EXACT [DOID:0060768]
synonym: "Smith-Magenis chromosome region" RELATED [OMIM:182290]
synonym: "Smith-Magenis syndrome" EXACT [MONDO:Lexical, OMIM:182290]
synonym: "Smith-Magenis syndrome chromosome region" RELATED [OMIM:182290]
synonym: "SMITH-Magenis syndrome; SMS" RELATED [OMIM:182290]
synonym: "SMS" RELATED [MONDO:Lexical, OMIM:182290]
xref: DOID:0060768 {source="MONDO:equivalentTo"}
xref: GARD:0008197 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:819/attributed", source="ORDO:819/ntbt", source="DOID:0060768", source="Orphanet:819"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058496 {source="MONDO:equivalentTo", source="ORDO:819/e", source="MONDO:ontobio", source="Orphanet:819"}
xref: NCIT:C75469 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:182290 {source="MONDO:equivalentTo", source="ORDO:819/e", source="DOID:0060768", source="Orphanet:819"}
xref: Orphanet:819 {source="OMIM:182290", source="MONDO:equivalentTo", source="DOID:0060768"}
xref: SCTID:401315004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0795864 {source="OMIM:182290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:819/e", source="Orphanet:819", source="NCIT:C75469"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:819", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DOID:0060768"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:819"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:819"} ! syndromic genetic obesity
is_a: MONDO:0016895 {source="Orphanet:819"} ! partial monosomy of the short arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866927
property_value: exactMatch DOID:0060768
property_value: exactMatch http://identifiers.org/mesh/D058496
property_value: exactMatch http://identifiers.org/omim/182290
property_value: exactMatch http://identifiers.org/snomedct/401315004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795864
property_value: exactMatch NCIT:C75469
property_value: exactMatch Orphanet:819

[Term]
id: MONDO:0008435
name: Somatomedin, embryonic
synonym: "Somatomedin, embryonic" EXACT [OMIM:182400]
xref: OMIM:182400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866879
property_value: exactMatch http://identifiers.org/omim/182400

[Term]
id: MONDO:0008436
name: Sneddon syndrome
def: "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." [Orphanet:820]
subset: gard_rare {source="GARD:0007664"}
subset: ordo_disease {source="Orphanet:820"}
synonym: "cerebro-vascular lesions and livedo reticularis" RELATED [GARD:0007664]
synonym: "Ehrmann-Sneddon syndrome" EXACT [Orphanet:820]
synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [DOID:13096]
synonym: "livedo racemosa and cerebrovascular accidents" RELATED [GARD:0007664]
synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [Orphanet:820]
synonym: "livedo reticularis and cerebrovascular accidents" RELATED [OMIM:182410]
synonym: "livedo reticularis-cerebrovascular accident syndrome" EXACT [Orphanet:820]
synonym: "Sneddon syndrome" EXACT [OMIM:182410]
synonym: "Sneddon's syndrome" RELATED [GARD:0007664]
xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"}
xref: EFO:1001186 {source="MONDO:equivalentTo"}
xref: GARD:0007664 {source="MONDO:equivalentTo"}
xref: ICD10:I77.8 {source="Orphanet:820", source="ORDO:820/attributed", source="ORDO:820/ntbt"}
xref: MedDRA:10053841 {source="Orphanet:820", source="ORDO:820/e"}
xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="MONDO:ontobio", source="ORDO:820/e"}
xref: OMIM:182410 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="ORDO:820/e"}
xref: Orphanet:820 {source="MONDO:equivalentTo", source="OMIM:182410"}
xref: SCTID:238776001 {source="MONDO:equivalentTo", source="DOID:13096", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0282492 {source="Orphanet:820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13096", source="OMIM:182410", source="ORDO:820/e"}
is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0015939 {source="Orphanet:820"} ! systemic autoimmune disease
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019293 {source="MESH:D018860", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! skin vascular disease
is_a: MONDO:0019546 {source="Orphanet:820"} ! other acquired skin disease
is_a: MONDO:0020676 {source="Orphanet:820"} ! disease of central nervous system or retinal vasculature
property_value: exactMatch DOID:13096
property_value: exactMatch http://identifiers.org/meddra/10053841
property_value: exactMatch http://identifiers.org/mesh/D018860
property_value: exactMatch http://identifiers.org/omim/182410
property_value: exactMatch http://identifiers.org/snomedct/238776001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282492
property_value: exactMatch Orphanet:820
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome xsd:anyURI {source="GARD:0007664"}

[Term]
id: MONDO:0008437
name: hereditary spastic paraplegia 3A
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:100984"}
synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791]
synonym: "autosomal dominant spastic paraplegia 3" EXACT [DOID:0110791]
synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791]
synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [OMIM:182600]
synonym: "FSP1" EXACT [DOID:0110791]
synonym: "hereditary spastic paraplegia caused by mutation in ATL1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 3A" EXACT [DOID:0110791, MONDORULE:4]
synonym: "spastic paraplegia 3" RELATED [GARD:0005041]
synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182600]
synonym: "spastic paraplegia 3, autosomal dominant; SPG3A" RELATED [OMIM:182600]
synonym: "spastic Paraplegia 3A" EXACT [NCIT:C142893]
synonym: "Spg3" RELATED [OMIM:182600]
synonym: "SPG3A" EXACT [DOID:0110791, MONDO:Lexical, OMIM:182600]
synonym: "Strumpell disease" RELATED [OMIM:182600]
synonym: "strumpell disease" EXACT [DOID:0110791]
synonym: "Strümpell disease" EXACT [Orphanet:100984]
xref: DOID:0110791 {source="MONDO:equivalentTo"}
xref: GARD:0005041 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100984/attributed", source="ORDO:100984/ntbt", source="Orphanet:100984", source="DOID:0110791"}
xref: MESH:C536864 {source="ORDO:100984/e", source="MONDO:equivalentTo", source="Orphanet:100984", source="MONDO:ontobio"}
xref: NCIT:C142893 {source="MONDO:equivalentTo"}
xref: OMIM:182600 {source="ORDO:100984/e", source="MONDO:equivalentTo", source="Orphanet:100984", source="DOID:0110791"}
xref: Orphanet:100984 {source="OMIM:182600", source="MONDO:equivalentTo", source="DOID:0110791"}
xref: UMLS:C2931355 {source="MEDGEN:kboom-pr98-c99", source="OMIM:182600", source="ORDO:100984/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100984"}
is_a: MONDO:0017914 {source="Orphanet:100984"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110791
property_value: exactMatch http://identifiers.org/mesh/C536864
property_value: exactMatch http://identifiers.org/omim/182600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931355
property_value: exactMatch NCIT:C142893
property_value: exactMatch Orphanet:100984

[Term]
id: MONDO:0008438
name: hereditary spastic paraplegia 4
def: "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." [Orphanet:100985]
subset: ordo_disease {source="Orphanet:100985"}
synonym: "autosomal dominant spastic paraplegia 4" EXACT [DOID:0110792]
synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792]
synonym: "familial spastic paraplegia autosomal dominant 2" RELATED [GARD:0004925]
synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [OMIM:182601]
synonym: "FSP2" RELATED [GARD:0004925]
synonym: "hereditary spastic paraplegia caused by mutation in SPAST" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 4" EXACT [DOID:0110792, MONDORULE:1]
synonym: "SPAST hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 4" RELATED [GARD:0004925]
synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601]
synonym: "spastic paraplegia 4, autosomal dominant; SPG4" RELATED [OMIM:182601]
synonym: "SPG4" EXACT [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985]
xref: DOID:0110792 {source="MONDO:equivalentTo"}
xref: GARD:0004925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100985/attributed", source="ORDO:100985/ntbt", source="Orphanet:100985", source="DOID:0110792"}
xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e", source="MONDO:ontobio"}
xref: NCIT:C129981 {source="MONDO:equivalentTo"}
xref: OMIM:182601 {source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e", source="DOID:0110792"}
xref: Orphanet:100985 {source="OMIM:182601", source="MONDO:equivalentTo", source="DOID:0110792"}
xref: SCTID:723820001 {source="MONDO:equivalentTo"}
xref: UMLS:C1866855 {source="MEDGEN:kboom-pr98-c99", source="OMIM:182601", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e"}
xref: UMLS:C4510079 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017914 {source="Orphanet:100985"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110792
property_value: exactMatch http://identifiers.org/mesh/C536865
property_value: exactMatch http://identifiers.org/omim/182601
property_value: exactMatch http://identifiers.org/snomedct/723820001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510079
property_value: exactMatch NCIT:C129981
property_value: exactMatch Orphanet:100985

[Term]
id: MONDO:0008439
name: spastic paraplegia-epilepsy-intellectual disability syndrome
comment: Editor note: TODO fix GARD spelling
subset: ordo_disease {source="Orphanet:2816"}
synonym: "spastic paraplegia epilepsy mental retardation" RELATED [GARD:0004915]
synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED [MONDO:Lexical, OMIM:182610]
synonym: "spastic paraplegia, epilepsy, and mental retardation; SPEMR" RELATED [OMIM:182610]
synonym: "SPEMR" EXACT [MONDO:Lexical, OMIM:182610, Orphanet:2816]
synonym: "spemr" RELATED [GARD:0004915]
xref: GARD:0004915 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:2816", source="ORDO:2816/attributed", source="ORDO:2816/ntbt"}
xref: MESH:C536869 {source="MONDO:equivalentTo"}
xref: OMIM:182610 {source="MONDO:equivalentTo", source="Orphanet:2816", source="ORDO:2816/e"}
xref: Orphanet:2816 {source="OMIM:182610", source="MONDO:equivalentTo"}
xref: UMLS:C1866854 {source="OMIM:182610", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2816", source="ORDO:2816/e"}
is_a: MONDO:0000508 {source="Orphanet:2816"} ! syndromic intellectual disability
is_a: MONDO:0015087 {source="Orphanet:2816"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch http://identifiers.org/mesh/C536869
property_value: exactMatch http://identifiers.org/omim/182610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866854
property_value: exactMatch Orphanet:2816

[Term]
id: MONDO:0008440
name: spastic paraplegia-nephritis-deafness syndrome
def: "This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." [Orphanet:2820]
subset: gard_rare
subset: ordo_clinical_syndrome {source="Orphanet:2820"}
synonym: "Fitzsimmons Walson Mellor syndrome" RELATED [GARD:0002342]
synonym: "Fitzsimmons-Walson-Mellor syndrome" EXACT [Orphanet:2820]
synonym: "spastic paraplegia - nephritis - deafness" RELATED [GARD:0002342]
synonym: "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy" RELATED [GARD:0002342]
synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED [OMIM:182690]
xref: GARD:0002342 {source="MONDO:equivalentTo"}
xref: MESH:C537937 {source="MONDO:equivalentTo"}
xref: OMIM:182690 {source="GARD:0002342", source="ORDO:2820/e", source="MONDO:equivalentTo", source="Orphanet:2820"}
xref: Orphanet:2820 {source="GARD:0002342", source="MONDO:equivalentTo", source="OMIM:182690"}
xref: UMLS:C2931667 {source="GARD:0002342", source="ORDO:2820/e", source="MONDO:equivalentTo", source="Orphanet:2820", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic intellectual disability
is_a: MONDO:0015087 {source="Orphanet:2820"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0019589 {source="Orphanet:2820"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2820"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866853
property_value: exactMatch http://identifiers.org/mesh/C537937
property_value: exactMatch http://identifiers.org/omim/182690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931667
property_value: exactMatch Orphanet:2820
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome xsd:anyURI {source="GARD:0002342"}

[Term]
id: MONDO:0008441
name: spastic paraplegia with associated extrapyramidal signs
synonym: "spastic paraplegia with associated extrapyramidal signs" EXACT [OMIM:182800]
xref: MESH:C566681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182800 {source="MONDO:equivalentTo"}
xref: UMLS:C1866852 {source="NCBI:mim2gene_medline", source="OMIM:182800", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566681/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566681
property_value: exactMatch http://identifiers.org/omim/182800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866852

[Term]
id: MONDO:0008442
name: spastic paraplegia-neuropathy-poikiloderma syndrome
def: "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." [Orphanet:2821]
subset: ordo_disease {source="Orphanet:2821"}
synonym: "Antinolo-Nieto-Borrego syndrome" EXACT [Orphanet:2821]
synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED [GARD:0004921]
synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921]
synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815]
xref: GARD:0004921 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e", source="MONDO:ontobio"}
xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e"}
xref: Orphanet:2821 {source="MONDO:equivalentTo", source="OMIM:182815"}
xref: UMLS:C1866851 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e", source="OMIM:182815", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015087 {source="Orphanet:2821"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch http://identifiers.org/mesh/C536870
property_value: exactMatch http://identifiers.org/omim/182815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866851
property_value: exactMatch Orphanet:2821

[Term]
id: MONDO:0008443
name: spastic paraplegia-precocious puberty syndrome
def: "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." [Orphanet:2826]
subset: ordo_disease {source="Orphanet:2826"}
synonym: "familial spastic paraplegia, mental retardation, and precocious puberty" RELATED [GARD:0004918]
synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820]
synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820]
xref: GARD:0004918 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536874 {source="MONDO:equivalentTo", source="ORDO:2826/e", source="MONDO:ontobio", source="Orphanet:2826"}
xref: OMIM:182820 {source="MONDO:equivalentTo", source="ORDO:2826/e", source="Orphanet:2826"}
xref: Orphanet:2826 {source="OMIM:182820", source="MONDO:equivalentTo"}
xref: UMLS:C1866850 {source="OMIM:182820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2826/e", source="Orphanet:2826"}
is_a: MONDO:0015087 {source="Orphanet:2826"} ! autosomal dominant complex spastic paraplegia
relationship: disease_has_feature MONDO:0000088 ! precocious puberty
property_value: exactMatch http://identifiers.org/mesh/C536874
property_value: exactMatch http://identifiers.org/omim/182820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866850
property_value: exactMatch Orphanet:2826

[Term]
id: MONDO:0008444
name: spastic paraplegia, optic atrophy, and dementia
synonym: "spastic paraplegia, optic atrophy, and dementia" EXACT [OMIM:182830]
xref: MESH:C566679 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182830 {source="MONDO:equivalentTo"}
xref: UMLS:C1866849 {source="OMIM:182830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566679/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566679
property_value: exactMatch http://identifiers.org/omim/182830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866849

[Term]
id: MONDO:0008445
name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
def: "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." [Orphanet:3038]
subset: ordo_malformation_syndrome {source="Orphanet:3038"}
synonym: "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" RELATED [GARD:0003449]
synonym: "Mehes syndrome" EXACT [Orphanet:3038]
synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875]
xref: GARD:0003449 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:3038", source="ORDO:3038/attributed", source="ORDO:3038/ntbt"}
xref: OMIM:182875 {source="ORDO:3038/e", source="Orphanet:3038", source="MONDO:equivalentTo"}
xref: Orphanet:3038 {source="OMIM:182875", source="MONDO:equivalentTo"}
xref: SCTID:716199000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2931119 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:3038", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3038", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3038"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866802
property_value: exactMatch http://identifiers.org/omim/182875
property_value: exactMatch http://identifiers.org/snomedct/716199000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931119
property_value: exactMatch Orphanet:3038

[Term]
id: MONDO:0008446
name: sperm protamine P4
synonym: "PRM4" RELATED [MONDO:Lexical, OMIM:182882]
synonym: "sperm protamine P4" EXACT [MONDO:Lexical, OMIM:182882]
synonym: "sperm protamine P4; PRM4" RELATED [OMIM:182882]
xref: OMIM:182882 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866801
property_value: exactMatch http://identifiers.org/omim/182882

[Term]
id: MONDO:0008447
name: hereditary spherocytosis type 1
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ANK1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 1" EXACT [DOID:0110916]
synonym: "hereditary spherocytosis caused by mutation in ANK1" EXACT [MONDO:design_pattern]
synonym: "HS1" EXACT [DOID:0110916]
synonym: "Sph" RELATED [OMIM:182900]
synonym: "SPH1" EXACT [DOID:0110916, MONDO:Lexical, OMIM:182900]
synonym: "spherocytosis, hereditary, 1" RELATED [OMIM:182900]
synonym: "spherocytosis, type 1" RELATED [MONDO:Lexical, OMIM:182900]
synonym: "spherocytosis, type 1; SPH1" RELATED [OMIM:182900]
xref: DOID:0110916 {source="MONDO:equivalentTo"}
xref: OMIM:182900 {source="MONDO:equivalentTo", source="DOID:0110916"}
xref: UMLS:C2674218 {source="OMIM:182900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019350 {source="DOID:0110916", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
property_value: exactMatch DOID:0110916
property_value: exactMatch http://identifiers.org/omim/182900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674218

[Term]
id: MONDO:0008448
name: spheroid body myopathy
def: "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations." [Orphanet:268129]
subset: gard_rare {source="GARD:0008711"}
subset: ordo_disease {source="Orphanet:268129"}
synonym: "autosomal dominant spheroid body myopathy" RELATED [GARD:0008711]
synonym: "myopathy, spheroid body" RELATED [OMIM:182920]
xref: DOID:0080091 {source="MONDO:equivalentTo"}
xref: GARD:0008711 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="ORDO:268129/attributed", source="ORDO:268129/ntbt", source="Orphanet:268129"}
xref: MESH:C000598645 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182920 {source="ORDO:268129/e", source="MONDO:equivalentTo", source="Orphanet:268129", source="DOID:0080091"}
xref: Orphanet:268129 {source="OMIM:182920", source="MONDO:equivalentTo"}
xref: SCTID:765092004 {source="MONDO:equivalentTo"}
xref: UMLS:C1866785 {source="OMIM:182920", source="ORDO:268129/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:268129"}
is_a: MONDO:0016201 {source="Orphanet:268129"} ! qualitative or quantitative defects of myotilin
is_a: MONDO:0018943 {source="OMIM:182920", source="Orphanet:268129"} ! myofibrillar myopathy (disease)
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0080091
property_value: exactMatch http://identifiers.org/mesh/C000598645
property_value: exactMatch http://identifiers.org/omim/182920
property_value: exactMatch http://identifiers.org/snomedct/765092004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866785
property_value: exactMatch Orphanet:268129
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy xsd:anyURI {source="GARD:0008711"}

[Term]
id: MONDO:0008449
name: spina bifida (disease)
def: "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." [NCIT:C101214]
synonym: "neural tube defects, susceptibility to" RELATED [MONDO:Lexical, OMIM:182940]
synonym: "neural tube defects, susceptibility to; NTD" RELATED [OMIM:182940]
synonym: "NTD" RELATED [MONDO:Lexical, OMIM:182940]
synonym: "rachischisis" EXACT [NCIT:C101214]
synonym: "spina bifida" EXACT [MONDO:ambiguous, OMIM:182940]
synonym: "spinal meningocele" EXACT [NCIT:C101214]
synonym: "spinal myelocele" EXACT [NCIT:C101214]
synonym: "spinal myelomeningocele" EXACT [NCIT:C101214]
xref: COHD:4283381 {source="MONDO:equivalentTo"}
xref: DOID:0080016 {source="MONDO:equivalentTo", source="EFO:0003105"}
xref: EFO:0003105 {source="MONDO:equivalentTo"}
xref: HP:0002414 {source="MONDO:otherHierarchy", source="EFO:0003105", source="ontobio"}
xref: ICD9:741 {source="EFO:0003105"}
xref: MESH:D016135 {source="MONDO:equivalentTo"}
xref: NCIT:C101214 {source="MONDO:equivalentTo", source="EFO:0003105", source="MONDO:kboom-pr-0.92/0.83/0.14"}
xref: SCTID:67531005 {source="MONDO:equivalentTo", source="EFO:0003105", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002545 ! spinal cord disease
is_a: MONDO:0017059 {source="Orphanet:823"} ! neural tube closure defect
relationship: disease_has_feature MONDO:0001147 ! meningocele (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027794
property_value: exactMatch DOID:0080016
property_value: exactMatch http://identifiers.org/mesh/D016135
property_value: exactMatch http://identifiers.org/snomedct/67531005
property_value: exactMatch NCIT:C101214

[Term]
id: MONDO:0008450
name: spinal arachnoiditis
def: "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." [NCIT:C50749]
synonym: "arachnoiditis, spinal" EXACT [NCIT:C50749]
synonym: "spinal arachnoiditis" EXACT [OMIM:182950]
xref: MESH:C531624 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C50749 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:182950 {source="MONDO:equivalentTo"}
xref: SCTID:426055002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1710146 {source="OMIM:182950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015304 {source="MESH:C531624", source="NCIT:C50749", source="ORDO:137817/btnt"} ! arachnoiditis
property_value: exactMatch http://identifiers.org/mesh/C531624
property_value: exactMatch http://identifiers.org/omim/182950
property_value: exactMatch http://identifiers.org/snomedct/426055002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710146
property_value: exactMatch NCIT:C50749

[Term]
id: MONDO:0008451
name: distal hereditary motor neuropathy type 1
def: "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." [NCIT:C132826]
subset: ordo_disease {source="Orphanet:139518"}
synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [Orphanet:139518]
synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [OMIM:182960]
synonym: "Charcot-Marie-Tooth disease, spinal, I" EXACT [NCIT:C132826]
synonym: "dHMN1" EXACT [Orphanet:139518]
synonym: "distal hereditary motor neuronopathy type I" EXACT [NCIT:C132826]
synonym: "HMN 1" RELATED [OMIM:182960]
synonym: "HMN1" RELATED [MONDO:Lexical, OMIM:182960]
synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, OMIM:182960]
synonym: "neuronopathy, distal hereditary motor, type I; HMN1" RELATED [OMIM:182960]
synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960]
synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:139518/attributed", source="ORDO:139518/ntbt", source="Orphanet:139518"}
xref: MESH:C566675 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132826 {source="MONDO:kboom-pr-1.00/0.74/5.80", source="MONDO:equivalentTo"}
xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="ORDO:139518/e"}
xref: Orphanet:139518 {source="MONDO:equivalentTo", source="OMIM:182960"}
xref: UMLS:C1866784 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="NCIT:C132826", source="MONDO:equivalentTo", source="Orphanet:139518", source="OMIM:182960"}
is_a: MONDO:0000075 {source="DC-OMIM:182960"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015362 {source="Orphanet:139518"} ! autosomal dominant distal hereditary motor neuropathy
is_a: MONDO:0015626 {source="NCIT:C132826"} ! Charcot-Marie-Tooth disease
property_value: exactMatch http://identifiers.org/mesh/C566675
property_value: exactMatch http://identifiers.org/omim/182960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866784
property_value: exactMatch NCIT:C132826
property_value: exactMatch Orphanet:139518

[Term]
id: MONDO:0008452
name: spinal muscular atrophy, facioscapulohumeral type
synonym: "Fshsma" RELATED [OMIM:182970]
synonym: "spinal muscular atrophy, facioscapulohumeral type" EXACT [OMIM:182970]
xref: MESH:C566674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182970 {source="MONDO:equivalentTo"}
xref: UMLS:C1866783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182970"}
is_a: MONDO:0001516 {source="DC-OMIM:182970", source="MESH:C566674"} ! spinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C566674
property_value: exactMatch http://identifiers.org/omim/182970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866783

[Term]
id: MONDO:0008453
name: adult-onset proximal spinal muscular atrophy, autosomal dominant
subset: ordo_disease {source="Orphanet:209335"}
synonym: "autosomal dominant adult-onset proximal SMA" EXACT [Orphanet:209335]
synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [Orphanet:209335]
synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [Orphanet:209335]
synonym: "Finkel disease" EXACT [Orphanet:209335]
synonym: "Finkel late-adult type Sma" RELATED [OMIM:182980]
synonym: "SMAFK" RELATED [MONDO:Lexical, OMIM:182980]
synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980]
synonym: "spinal muscular atrophy, late-onset, FINKEL type; SMAFK" RELATED [OMIM:182980]
synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980]
xref: ICD10:G12.1 {source="ORDO:209335/attributed", source="ORDO:209335/ntbt", source="Orphanet:209335"}
xref: OMIM:182980 {source="MONDO:equivalentTo", source="ORDO:209335/e", source="Orphanet:209335"}
xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"}
xref: UMLS:CN200940 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016224 {source="Orphanet:209335"} ! autosomal dominant proximal spinal muscular atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854058
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866777
property_value: exactMatch http://identifiers.org/omim/182980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200940
property_value: exactMatch Orphanet:209335

[Term]
id: MONDO:0008454
name: spinal intradural arachnoid cysts
def: "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." [https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts]
subset: gard_rare {source="GARD:0009701"}
synonym: "arachnoid cysts, spinal intradural" RELATED [GARD:0009701]
synonym: "spinal intradural arachnoid cysts" EXACT [OMIM:182990]
xref: GARD:0009701 {source="MONDO:equivalentTo"}
xref: MESH:C536878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:182990 {source="MONDO:equivalentTo"}
is_a: MONDO:0008813 {source="MESH:C536878", source="ORDO:2356/btnt"} ! arachnoid cyst
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344485
property_value: exactMatch http://identifiers.org/mesh/C536878
property_value: exactMatch http://identifiers.org/omim/182990
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts xsd:anyURI {source="GARD:0009701"}

[Term]
id: MONDO:0008455
name: spinal muscular atrophy, segmental
synonym: "spinal muscular atrophy, segmental" EXACT [OMIM:183020]
xref: MESH:C566670 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183020 {source="MONDO:equivalentTo"}
xref: UMLS:C1866774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183020"}
is_a: MONDO:0001516 {source="DC-OMIM:183020", source="MESH:C566670"} ! spinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C566670
property_value: exactMatch http://identifiers.org/omim/183020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866774

[Term]
id: MONDO:0008456
name: spinocerebellar ataxia with rigidity and peripheral neuropathy
synonym: "spinocerebellar ataxia with rigidity and peripheral neuropathy" EXACT [OMIM:183050]
xref: MESH:C566669 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183050 {source="MONDO:equivalentTo"}
xref: UMLS:C1866770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183050"}
is_a: MONDO:0003847 {source="MESH:C566669/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566669
property_value: exactMatch http://identifiers.org/omim/183050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866770

[Term]
id: MONDO:0008457
name: spinocerebellar ataxia type 6
def: "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." [Orphanet:98758]
subset: gard_rare {source="GARD:0010351"}
subset: ordo_disease {source="Orphanet:98758"}
synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCA6" EXACT [MONDO:Lexical, OMIM:183086, Orphanet:98758]
synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086]
synonym: "spinocerebellar ataxia 6; SCA6" RELATED [OMIM:183086]
synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086]
xref: DOID:0050956 {source="MONDO:equivalentTo"}
xref: GARD:0010351 {source="MONDO:equivalentTo"}
xref: ICD10:G11.2 {source="ORDO:98758/attributed", source="ORDO:98758/ntbt", source="Orphanet:98758"}
xref: NCIT:C142838 {source="MONDO:equivalentTo"}
xref: OMIM:183086 {source="ORDO:98758/e", source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956"}
xref: Orphanet:98758 {source="MONDO:equivalentTo", source="OMIM:183086"}
xref: SCTID:715752006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752124 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="ORDO:98758/e", source="MONDO:equivalentTo", source="Orphanet:98758", source="OMIM:183086"}
is_a: MONDO:0019793 {source="MONDO:Redundant", source="Orphanet:98758"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050956
property_value: exactMatch http://identifiers.org/omim/183086
property_value: exactMatch http://identifiers.org/snomedct/715752006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752124
property_value: exactMatch NCIT:C142838
property_value: exactMatch Orphanet:98758
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 xsd:anyURI {source="GARD:0010351"}

[Term]
id: MONDO:0008458
name: spinocerebellar ataxia type 2
def: "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." [Orphanet:98756]
subset: ordo_disease {source="Orphanet:98756"}
subset: predisposition
synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090]
synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [DOID:0060204, OMIM:183090]
synonym: "amyotrophic lateral sclerosis type 13" RELATED [DOID:0060204]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [OMIM:183090]
synonym: "ATXN2 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" EXACT [MONDO:design_pattern]
synonym: "cerebellar Degeneration with slow eye movements" RELATED [OMIM:183090]
synonym: "olivopontocerebellar atrophy 2" RELATED [OMIM:183090]
synonym: "olivopontocerebellar atrophy Holguin type" RELATED [GARD:0004072]
synonym: "olivopontocerebellar atrophy, Holguin type" RELATED [OMIM:183090]
synonym: "OPCA2" EXACT [NCIT:C148315]
synonym: "SCA 2" RELATED [GARD:0004072]
synonym: "SCA2" EXACT [MONDO:Lexical, OMIM:183090, Orphanet:98756]
synonym: "spinocerebellar ataxia 2" RELATED [MONDO:Lexical, OMIM:183090]
synonym: "spinocerebellar ataxia 2; SCA2" RELATED [OMIM:183090]
synonym: "spinocerebellar ataxia Cuban type" RELATED [GARD:0004072]
synonym: "spinocerebellar ataxia type 2" EXACT [MONDORULE:1, OMIM:183090]
synonym: "spinocerebellar ataxia with slow eye movements" RELATED [GARD:0004072]
synonym: "spinocerebellar ataxia, Cuban type" RELATED [OMIM:183090]
synonym: "spinocerebellar atrophy 2" RELATED [OMIM:183090]
synonym: "spinocerebellar Degeneration with slow eye movements" RELATED [OMIM:183090]
synonym: "Wadia swami syndrome" RELATED [GARD:0004072]
synonym: "Wadia-swami syndrome" RELATED [OMIM:183090]
xref: DOID:0050955 {source="MONDO:equivalentTo"}
xref: DOID:0060204 {source="MONDO:equivalentTo"}
xref: GARD:0004072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98756", source="ORDO:98756/attributed", source="ORDO:98756/ntbt"}
xref: NCIT:C148315 {source="MONDO:equivalentTo"}
xref: OMIM:183090 {source="ORDO:98756/e", source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955"}
xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"}
xref: SCTID:715751004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752121 {source="MEDGEN:kboom-pr98-c99", source="OMIM:183090", source="ORDO:98756/e", source="Orphanet:98756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98756"} ! autosomal dominant cerebellar ataxia type I
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149907
property_value: exactMatch DOID:0050955
property_value: exactMatch DOID:0060204
property_value: exactMatch http://identifiers.org/omim/183090
property_value: exactMatch http://identifiers.org/snomedct/715751004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752121
property_value: exactMatch NCIT:C148315
property_value: exactMatch Orphanet:98756

[Term]
id: MONDO:0008459
name: spinocerebellar atrophy with pupillary paralysis
synonym: "spinocerebellar atrophy with pupillary paralysis" EXACT [OMIM:183100]
xref: MESH:C566668 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183100 {source="MONDO:equivalentTo"}
xref: UMLS:C1866746 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183100"}
is_a: MONDO:0003847 {source="MESH:C566668/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566668
property_value: exactMatch http://identifiers.org/omim/183100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866746

[Term]
id: MONDO:0008460
name: splenogonadal fusion-limb defects-micrognathia syndrome
def: "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." [Orphanet:2063]
subset: ordo_malformation_syndrome {source="Orphanet:2063"}
synonym: "SGFLD syndrome" EXACT [Orphanet:2063]
synonym: "Sgfld syndrome" RELATED [OMIM:183300]
synonym: "splenogonadal fusion limb defect syndrome" RELATED [OMIM:183300]
synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963]
synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963]
synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300]
xref: GARD:0004963 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2063", source="ORDO:2063/attributed", source="ORDO:2063/ntbt"}
xref: MESH:C537318 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183300 {source="MONDO:equivalentTo", source="Orphanet:2063", source="ORDO:2063/e"}
xref: Orphanet:2063 {source="MONDO:equivalentTo", source="OMIM:183300"}
xref: SCTID:726724005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2063", source="OMIM:183300"}
is_a: MONDO:0015214 {source="Orphanet:2063"} ! syndromic visceral malformation
is_a: MONDO:0015334 {source="Orphanet:2063"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0017432 {source="Orphanet:2063"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:2063", source="Orphanet:2063/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C537318
property_value: exactMatch http://identifiers.org/omim/183300
property_value: exactMatch http://identifiers.org/snomedct/726724005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866745
property_value: exactMatch Orphanet:2063

[Term]
id: MONDO:0008461
name: splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
synonym: "splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells" EXACT [OMIM:183350]
xref: MESH:C566666 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183350 {source="MONDO:equivalentTo"}
xref: UMLS:C1866744 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183350"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566666
property_value: exactMatch http://identifiers.org/omim/183350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866744

[Term]
id: MONDO:0008462
name: split lower lip
synonym: "split lower lip" EXACT [OMIM:183400]
synonym: "split Lower type lip" EXACT [MONDORULE:4, OMIM:183400]
xref: OMIM:183400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866743
property_value: exactMatch http://identifiers.org/omim/183400

[Term]
id: MONDO:0008463
name: split-hand and split-foot with hypodontia
synonym: "split-hand and split-foot with hypodontia" EXACT [OMIM:183500]
xref: MESH:C566665 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183500 {source="MONDO:equivalentTo"}
xref: UMLS:C1866742 {source="OMIM:183500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566665
property_value: exactMatch http://identifiers.org/omim/183500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866742

[Term]
id: MONDO:0008464
name: split hand-foot malformation 1
def: "Split-hand/foot malformation mapped to chromosome 7q21.3" [NCIT:C75045]
synonym: "ectrodactyly" RELATED [OMIM:183600]
synonym: "SHFD1" EXACT [DOID:0090021]
synonym: "SHFM1" EXACT [DOID:0090021, MONDO:Lexical, OMIM:183600]
synonym: "split hand-foot malformation type 1" EXACT [DOID:0090021, MONDORULE:1]
synonym: "split-hand deformity" RELATED [OMIM:183600]
synonym: "split-hand/foot deformity 1" RELATED [OMIM:183600]
synonym: "split-hand/foot malformation 1" RELATED [MONDO:Lexical, OMIM:183600]
synonym: "split-hand/foot malformation 1 with or without deafness" RELATED [OMIM:183600]
synonym: "split-hand/foot malformation 1; SHFM1" RELATED [OMIM:183600]
synonym: "split-hand/foot malformation type 1" EXACT [MONDORULE:1, OMIM:183600]
xref: DOID:0090021 {source="MONDO:equivalentTo"}
xref: GARD:0007685 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090021"}
xref: NCIT:C75045 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.27"}
xref: OMIM:183600 {source="DOID:0090021", source="MONDO:equivalentTo"}
xref: UMLS:C2931019 {source="OMIM:183600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75045"}
is_a: MONDO:0016576 {source="DOID:0090021", source="NCIT:C75045", source="OMIM:183600"} ! split hand-foot malformation
property_value: exactMatch DOID:0090021
property_value: exactMatch http://identifiers.org/omim/183600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931019
property_value: exactMatch NCIT:C75045

[Term]
id: MONDO:0008465
name: Patterson-Stevenson-Fontaine syndrome
def: "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." [Orphanet:2439]
subset: gard_rare {source="GARD:0004260"}
subset: ordo_malformation_syndrome {source="Orphanet:2439"}
synonym: "Patterson Stevenson Fontaine syndrome" RELATED [GARD:0004260]
synonym: "Patterson-Stevenson syndrome" EXACT [Orphanet:2439]
synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700]
synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orphanet:2439]
synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260]
synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700]
xref: GARD:0004260 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2439/attributed", source="ORDO:2439/ntbt", source="Orphanet:2439"}
xref: OMIM:183700 {source="MONDO:equivalentTo", source="ORDO:2439/e", source="Orphanet:2439"}
xref: Orphanet:2439 {source="OMIM:183700", source="MONDO:equivalentTo"}
xref: SCTID:724069009 {source="MONDO:equivalentTo"}
xref: UMLS:C1866741 {source="OMIM:183700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2439/e", source="Orphanet:2439", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015334 {source="Orphanet:2439"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="Orphanet:2439"} ! acrofacial dysostosis
property_value: exactMatch http://identifiers.org/omim/183700
property_value: exactMatch http://identifiers.org/snomedct/724069009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489790
property_value: exactMatch Orphanet:2439
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome xsd:anyURI {source="GARD:0004260"}

[Term]
id: MONDO:0008466
name: Karsch-Neugebauer syndrome
def: "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." [Orphanet:2329]
subset: ordo_malformation_syndrome {source="Orphanet:2329"}
synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800]
synonym: "KNS" RELATED [GARD:0004967]
synonym: "Nystagmus-split hand syndrome" RELATED [OMIM:183800]
synonym: "split hand nystagmus syndrome" RELATED [GARD:0004967]
synonym: "split hand split foot nystagmus" RELATED [GARD:0004967]
synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329]
synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800]
xref: GARD:0004967 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="ORDO:2329/attributed", source="ORDO:2329/ntbt", source="Orphanet:2329"}
xref: MESH:C537319 {source="MONDO:equivalentTo", source="ORDO:2329/e", source="MONDO:ontobio", source="Orphanet:2329"}
xref: OMIM:183800 {source="MONDO:equivalentTo", source="ORDO:2329/e", source="Orphanet:2329"}
xref: Orphanet:2329 {source="OMIM:183800", source="MONDO:equivalentTo"}
xref: SCTID:722032005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.79"}
xref: UMLS:C1866740 {source="OMIM:183800", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2329"}
is_a: MONDO:0017432 {source="Orphanet:2329"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2329", source="Orphanet:2329/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C537319
property_value: exactMatch http://identifiers.org/omim/183800
property_value: exactMatch http://identifiers.org/snomedct/722032005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866740
property_value: exactMatch Orphanet:2329

[Term]
id: MONDO:0008467
name: Czeizel-Losonci syndrome
def: "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." [Orphanet:2437]
subset: ordo_malformation_syndrome {source="Orphanet:2437"}
synonym: "split hand urinary anomalies spina bifida" RELATED [GARD:0004969]
synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" EXACT [Orphanet:2437]
synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437]
synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802]
xref: GARD:0004969 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2437/attributed", source="ORDO:2437/ntbt", source="Orphanet:2437"}
xref: MESH:C566662 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183802 {source="MONDO:equivalentTo", source="ORDO:2437/e", source="Orphanet:2437"}
xref: Orphanet:2437 {source="OMIM:183802", source="MONDO:equivalentTo"}
xref: UMLS:C1866739 {source="OMIM:183802", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2437", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2437", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:2437"} ! syndromic urogenital tract malformation
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043008 {source="Orphanet:2437"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C566662
property_value: exactMatch http://identifiers.org/omim/183802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866739
property_value: exactMatch Orphanet:2437

[Term]
id: MONDO:0008468
name: spondyloarthropathy, susceptibility to, 2
subset: predisposition
synonym: "SPDA2" RELATED [MONDO:Lexical, OMIM:183840]
synonym: "spondyloarthropathy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:183840]
synonym: "spondyloarthropathy, susceptibility to, 2; SPDA2" RELATED [OMIM:183840]
xref: OMIM:183840 {source="MONDO:equivalentTo"}
xref: UMLS:C1866738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183840"}
is_a: MONDO:0024512 {source="MONDOLEX:0008468", source="OMIM:183840"} ! spondyloarthropathy, susceptibility to
property_value: closeMatch Orphanet:825
property_value: exactMatch http://identifiers.org/omim/183840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866738

[Term]
id: MONDO:0008469
name: spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
def: "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." [Orphanet:168443]
subset: ordo_disease {source="Orphanet:168443"}
synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183849]
synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101]
synonym: "Whyte syndrome" RELATED [OMIM:183849]
xref: GARD:0010101 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="Orphanet:168443", source="ORDO:168443/attributed", source="ORDO:168443/ntbt"}
xref: MESH:C535783 {source="ORDO:168443/e", source="Orphanet:168443", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183849 {source="ORDO:168443/e", source="Orphanet:168443", source="MONDO:equivalentTo"}
xref: Orphanet:168443 {source="MONDO:equivalentTo", source="OMIM:183849"}
xref: UMLS:C1866728 {source="ORDO:168443/e", source="Orphanet:168443", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183849"}
is_a: MONDO:0016761 {source="Orphanet:168443"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535783
property_value: exactMatch http://identifiers.org/omim/183849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866728
property_value: exactMatch Orphanet:168443

[Term]
id: MONDO:0008470
name: spondyloepiphyseal dysplasia with punctate corneal dystrophy
synonym: "spondyloepiphyseal dysplasia with punctate corneal dystrophy" EXACT [OMIM:183850]
synonym: "spondyloepiphyseal dysplasia, Byers type" EXACT [Orphanet:163673]
xref: MESH:C566660 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:183850 {source="MONDO:equivalentTo"}
xref: Orphanet:163673 {source="MONDO:equivalentObsolete", source="OMIM:183850"}
xref: UMLS:C1866727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183850"}
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C566660
property_value: exactMatch http://identifiers.org/omim/183850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866727
property_value: exactMatch Orphanet:163673

[Term]
id: MONDO:0008471
name: spondyloepiphyseal dysplasia congenita
def: "Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." [Orphanet:94068]
subset: gard_rare {source="GARD:0004987"}
subset: ordo_disease {source="Orphanet:94068"}
synonym: "congenital spondyloepiphyseal dysplasia" EXACT [Orphanet:94068]
synonym: "late spondyloepiphyseal dysplasia" EXACT [DOID:14789, MTH:NOCODE]
synonym: "SED congenita" RELATED [OMIM:183900]
synonym: "SEDC" EXACT [MONDO:Lexical, OMIM:183900, Orphanet:94068]
synonym: "spondyloepiphyseal dysplasia congenita" EXACT [MONDO:Lexical, OMIM:183900]
synonym: "spondyloepiphyseal dysplasia congenita; SEDC" RELATED [OMIM:183900]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" EXACT [DOID:14789]
synonym: "spondyloepiphyseal dysplasia, congenital type" RELATED [OMIM:183900]
synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068]
xref: DOID:14789 {source="MONDO:equivalentTo"}
xref: GARD:0004987 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:94068", source="ORDO:94068/attributed", source="ORDO:94068/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062920 {source="ORDO:94068/e", source="Orphanet:94068"}
xref: MESH:C535788 {source="ORDO:94068/e", source="Orphanet:94068", source="MONDO:equivalentTo"}
xref: OMIM:183900 {source="DOID:14789", source="ORDO:94068/e", source="Orphanet:94068", source="MONDO:equivalentTo"}
xref: Orphanet:94068 {source="OMIM:183900", source="MONDO:equivalentTo"}
xref: SCTID:278713008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.07"}
is_a: MONDO:0016761 {source="Orphanet:94068"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:94068"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch DOID:14789
property_value: exactMatch http://identifiers.org/meddra/10062920
property_value: exactMatch http://identifiers.org/mesh/C535788
property_value: exactMatch http://identifiers.org/omim/183900
property_value: exactMatch http://identifiers.org/snomedct/278713008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745959
property_value: exactMatch Orphanet:94068
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita xsd:anyURI {source="GARD:0004987"}

[Term]
id: MONDO:0008472
name: spondyloepiphyseal dysplasia, MacDermot type
def: "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." [Orphanet:163668]
subset: ordo_malformation_syndrome {source="Orphanet:163668"}
synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000]
synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668]
xref: ICD10:Q77.7 {source="ORDO:163668/attributed", source="ORDO:163668/ntbt", source="Orphanet:163668"}
xref: MESH:C566659 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:184000 {source="MONDO:equivalentTo", source="ORDO:163668/e", source="Orphanet:163668"}
xref: Orphanet:163668 {source="MONDO:equivalentTo", source="OMIM:184000"}
xref: UMLS:C1866719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:184000", source="Orphanet:163668"}
is_a: MONDO:0016761 {source="Orphanet:163668"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019589 {source="Orphanet:163668"} ! syndromic genetic deafness
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C566659
property_value: exactMatch http://identifiers.org/omim/184000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866719
property_value: exactMatch Orphanet:163668

[Term]
id: MONDO:0008473
name: spondyloepiphyseal dysplasia, Maroteaux type
def: "Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." [Orphanet:263482]
subset: ordo_disease {source="Orphanet:263482"}
synonym: "brachyolmia Maroteaux type" RELATED [GARD:0000994]
synonym: "pseudo-Morquio syndrome type 2" EXACT [Orphanet:263482]
synonym: "pseudo-Morquio syndrome, type 2" RELATED [OMIM:184095]
synonym: "Sed, Maroteaux type" RELATED [OMIM:184095]
synonym: "spondyloepiphyseal dysplasia Maroteaux type" RELATED [GARD:0000994]
synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095]
xref: GARD:0000994 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="Orphanet:263482", source="ORDO:263482/attributed", source="ORDO:263482/ntbt"}
xref: OMIM:184095 {source="Orphanet:263482", source="ORDO:263482/e", source="MONDO:equivalentTo"}
xref: Orphanet:263482 {source="MONDO:equivalentTo", source="OMIM:184095"}
xref: SCTID:719204007 {source="MONDO:kboom-pr-1.00/0.79/7.88", source="MONDO:equivalentTo"}
xref: UMLS:CN202294 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:263482"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018240 {source="Orphanet:263482"} ! TRPV4-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3159322
property_value: exactMatch http://identifiers.org/omim/184095
property_value: exactMatch http://identifiers.org/snomedct/719204007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202294
property_value: exactMatch Orphanet:263482

[Term]
id: MONDO:0008474
name: spondyloepiphyseal dysplasia tarda, autosomal dominant
def: "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis , kyphosis , lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes ( mutations ) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies." [https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda]
subset: gard_rare {source="GARD:0010624"}
synonym: "autosomal dominant spondyloepiphyseal dysplasia tarda" EXACT []
synonym: "spondyloepiphyseal dysplasia tarda, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:184100]
xref: GARD:0010624 {source="MONDO:equivalentTo"}
xref: MESH:C566658 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:184100 {source="MONDO:equivalentTo"}
xref: UMLS:C1866717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184100"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0007738 {source="DC-OMIM:184100"} ! spondyloepiphyseal dysplasia with congenital joint dislocations
is_a: MONDO:0019667 {source="MONDO:Redundant", source="ORDO:93284/btnt"} ! spondyloepiphyseal dysplasia tarda
property_value: exactMatch http://identifiers.org/mesh/C566658
property_value: exactMatch http://identifiers.org/omim/184100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866717
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda xsd:anyURI {source="GARD:0010624"}

[Term]
id: MONDO:0008475
name: spondylolisthesis (disease)
def: "A condition in which there is forward displacement of a vertebral bone over the on below it." [NCIT:P378]
synonym: "spondylolisthesis" EXACT [MONDO:ambiguous, OMIM:184200]
xref: DOID:6682 {source="MONDO:equivalentTo", source="EFO:0007493"}
xref: EFO:0007493 {source="MONDO:equivalentTo"}
xref: HP:0003302 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M43.1 {source="DOID:6682"}
xref: ICD10:M43.10 {source="DOID:6682"}
xref: MESH:D013168 {source="MONDO:equivalentTo", source="EFO:0007493", source="MONDO:ontobio", source="DOID:6682"}
xref: NCIT:C35033 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:6682"}
xref: OMIM:184200 {source="MONDO:equivalentTo", source="DOID:6682"}
xref: SCTID:274152003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:6682"}
xref: UMLS:C0038016 {source="NCBI:mim2gene_medline", source="NCIT:C35033", source="MONDO:equivalentTo", source="DOID:6682", source="OMIM:184200"}
is_a: MONDO:0000836 {source="DOID:6682"} ! disease of bone structure
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/157003009
property_value: closeMatch http://identifiers.org/snomedct/268349005
property_value: exactMatch DOID:6682
property_value: exactMatch http://identifiers.org/mesh/D013168
property_value: exactMatch http://identifiers.org/omim/184200
property_value: exactMatch http://identifiers.org/snomedct/274152003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038016
property_value: exactMatch NCIT:C35033

[Term]
id: MONDO:0008476
name: spondyloepimetaphyseal dysplasia, Strudwick type
def: "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [Orphanet:93346]
subset: gard_rare {source="GARD:0000134"}
subset: ordo_disease {source="Orphanet:93346"}
synonym: "dappled metaphysis syndrome" RELATED [OMIM:184250]
synonym: "SEMD, Strudwick type" RELATED [OMIM:184250]
synonym: "Semdc" RELATED [OMIM:184250]
synonym: "SEMDSTWK" RELATED [MONDO:Lexical, OMIM:184250]
synonym: "SmD" RELATED [GARD:0000134]
synonym: "SMED Strudwick type" RELATED [GARD:0000134]
synonym: "SMED type 1" RELATED [GARD:0000134]
synonym: "Smed, Strudwick type" RELATED [OMIM:184250]
synonym: "Smed, type 1" RELATED [OMIM:184250]
synonym: "spondyloepimetaphyseal dysplasia congenita, Strudwick type" RELATED [Orphanet:93346]
synonym: "spondyloepimetaphyseal dysplasia Strudwick type" RELATED [GARD:0000134]
synonym: "spondyloepimetaphyseal dysplasia, Strudwick type" EXACT [MONDO:Lexical, OMIM:184250]
synonym: "spondyloepimetaphyseal dysplasia, Strudwick type; SEMDSTWK" RELATED [OMIM:184250]
synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [OMIM:184250]
synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250]
synonym: "Strudwick syndrome" RELATED [OMIM:184250]
xref: DOID:0080028 {source="MONDO:equivalentTo"}
xref: GARD:0000134 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93346/attributed", source="ORDO:93346/ntbt", source="Orphanet:93346"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:184250 {source="ORDO:93346/e", source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028"}
xref: Orphanet:93346 {source="MONDO:equivalentTo", source="OMIM:184250"}
xref: SCTID:702350003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016761 {source="DOID:0080028", source="Orphanet:93346"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:93346"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
relationship: disease_has_feature MONDO:0005392 ! scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700635
property_value: exactMatch DOID:0080028
property_value: exactMatch http://identifiers.org/omim/184250
property_value: exactMatch http://identifiers.org/snomedct/702350003
property_value: exactMatch Orphanet:93346
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type xsd:anyURI {source="GARD:0000134"}

[Term]
id: MONDO:0008477
name: spondylometaphyseal dysplasia, Kozlowski type
def: "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." [Orphanet:93314]
subset: gard_rare {source="GARD:0003047"}
subset: ordo_disease {source="Orphanet:93314"}
synonym: "Dysmorphism arthrogryposis skeletal maturation advanced" RELATED [GARD:0003047]
synonym: "Jequier Kozlowski skeletal dysplasia" RELATED [GARD:0003047]
synonym: "Jequier-Kozlowski syndrome" RELATED [GARD:0003047]
synonym: "skeletal dysplasia Jequier-Kozlowski type" RELATED [GARD:0003047]
synonym: "SmD Kozlowski type" RELATED [GARD:0003047]
synonym: "SmD, Kozlowski type" RELATED [OMIM:184252]
synonym: "SMDK" RELATED [MONDO:Lexical, OMIM:184252]
synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT [MONDO:Lexical, OMIM:184252]
synonym: "spondylometaphyseal dysplasia, Kozlowski type; SMDK" RELATED [OMIM:184252]
xref: GARD:0003047 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:93314/attributed", source="ORDO:93314/ntbt", source="Orphanet:93314"}
xref: MESH:C535797 {source="ORDO:93314/e", source="MONDO:equivalentTo", source="Orphanet:93314", source="MONDO:ontobio"}
xref: OMIM:184252 {source="ORDO:93314/e", source="MONDO:equivalentTo", source="Orphanet:93314"}
xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"}
is_a: MONDO:0016763 {source="DC-OMIM:184252", source="MONDOLEX:0008477", source="Orphanet:93314"} ! spondylometaphyseal dysplasia
is_a: MONDO:0018240 {source="Orphanet:93314"} ! TRPV4-related bone disorder
property_value: exactMatch http://identifiers.org/mesh/C535797
property_value: exactMatch http://identifiers.org/omim/184252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265280
property_value: exactMatch Orphanet:93314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type xsd:anyURI {source="GARD:0003047"}

[Term]
id: MONDO:0008478
name: spondylometaphyseal dysplasia, Schmidt type
def: "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." [Orphanet:93316]
subset: ordo_disease {source="Orphanet:93316"}
synonym: "Schmid metaphyseal dysostosis" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia Algerian type" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia Schmidt type" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184253, Orphanet:93316]
synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316]
synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253]
xref: GARD:0000504 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="ORDO:93316/attributed", source="ORDO:93316/ntbt", source="Orphanet:93316"}
xref: MESH:C535794 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:184253 {source="MONDO:equivalentTo", source="ORDO:93316/e", source="Orphanet:93316"}
xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"}
xref: SCTID:719304005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.51"}
is_a: MONDO:0016763 {source="DC-OMIM:184253", source="MONDOLEX:0008478", source="Orphanet:93316"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:93316"} ! type 2 collagen-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866688
property_value: exactMatch http://identifiers.org/mesh/C535794
property_value: exactMatch http://identifiers.org/omim/184253
property_value: exactMatch http://identifiers.org/snomedct/719304005
property_value: exactMatch Orphanet:93316

[Term]
id: MONDO:0008479
name: spondylometaphyseal dysplasia, 'corner fracture' type
def: "Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." [Orphanet:93315]
subset: gard_rare {source="GARD:0004991"}
subset: ordo_disease {source="Orphanet:93315"}
synonym: "SMDCF" RELATED [OMIM:184255]
synonym: "spondylometaphyseal dysplasia corner fracture type" RELATED [GARD:0004991]
synonym: "spondylometaphyseal dysplasia Sutcliffe type" RELATED [GARD:0004991]
synonym: "spondylometaphyseal dysplasia, corner fracture type" RELATED [OMIM:184255]
synonym: "spondylometaphyseal dysplasia, corner fracture type; SMDCF" RELATED [OMIM:184255]
synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orphanet:93315]
synonym: "Sutcliffe SmD" RELATED [GARD:0004991]
synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991]
xref: GARD:0004991 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:93315/attributed", source="ORDO:93315/ntbt", source="Orphanet:93315"}
xref: MESH:C535793 {source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315", source="MONDO:ontobio"}
xref: OMIM:184255 {source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315"}
xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"}
xref: SCTID:254078005 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C0432221 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315", source="OMIM:184255"}
is_a: MONDO:0016763 {source="DC-OMIM:184255", source="MONDOLEX:0008479", source="Orphanet:93315"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:93315"} ! type 2 collagen-related bone disorder
property_value: exactMatch http://identifiers.org/mesh/C535793
property_value: exactMatch http://identifiers.org/omim/184255
property_value: exactMatch http://identifiers.org/snomedct/254078005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432221
property_value: exactMatch Orphanet:93315
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type xsd:anyURI {source="GARD:0004991"}

[Term]
id: MONDO:0008480
name: odontochondrodysplasia
def: "odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." [Orphanet:166272]
subset: ordo_malformation_syndrome {source="Orphanet:166272"}
synonym: "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" EXACT [Orphanet:166272]
synonym: "Goldblatt chondrodysplasia" EXACT [Orphanet:166272]
synonym: "Goldblatt syndrome" EXACT [OMIM:184260, Orphanet:166272]
synonym: "ODCD" EXACT [Orphanet:166272]
synonym: "odontochondrodysplasia" EXACT [OMIM:184260]
synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260]
xref: GARD:0008717 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:166272/attributed", source="ORDO:166272/ntbt", source="Orphanet:166272"}
xref: OMIM:184260 {source="MONDO:equivalentTo", source="ORDO:166272/e", source="Orphanet:166272"}
xref: Orphanet:166272 {source="MONDO:equivalentTo", source="OMIM:184260"}
xref: SCTID:717823001 {source="MONDO:kboom-pr-1.00/0.79/7.65", source="MONDO:equivalentTo"}
xref: UMLS:CN200045 {source="MONDO:equivalentTo"}
is_a: MONDO:0015877 {source="Orphanet:166272"} ! malformative syndrome with dentinogenesis imperfecta
is_a: MONDO:0016763 {source="MONDOLEX:0008480", source="Orphanet:166272"} ! spondylometaphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018036
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2745953
property_value: exactMatch http://identifiers.org/omim/184260
property_value: exactMatch http://identifiers.org/snomedct/717823001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200045
property_value: exactMatch Orphanet:166272

[Term]
id: MONDO:0008481
name: spondylosis, cervical
synonym: "spondylosis, cervical" EXACT [OMIM:184300]
xref: OMIM:184300 {source="MONDO:equivalentTo"}
xref: SCTID:387800004 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:C1384641 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/184300
property_value: exactMatch http://identifiers.org/snomedct/387800004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384641

[Term]
id: MONDO:0008482
name: Sprengel deformity (disease)
subset: ordo_morphological_anomaly {source="Orphanet:3181"}
synonym: "congenital elevation of the scapula" RELATED [GARD:0007693]
synonym: "congenital upward displacement of the scapula" RELATED [GARD:0007693]
synonym: "high scapula" EXACT [OMIM:184400, Orphanet:3181]
synonym: "Sprengel deformity" EXACT [MONDO:ambiguous, OMIM:184400]
synonym: "Sprengel's deformity" RELATED [GARD:0007693]
synonym: "Sprengel's shoulder" RELATED [GARD:0007693]
xref: GARD:0007693 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0000912 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q74.0 {source="ORDO:3181/ntbt", source="Orphanet:3181"}
xref: MedDRA:10010455 {source="Orphanet:3181", source="ORDO:3181/e"}
xref: MESH:C535802 {source="MONDO:equivalentTo", source="Orphanet:3181", source="ORDO:3181/e", source="MONDO:ontobio"}
xref: OMIM:184400 {source="MONDO:equivalentTo", source="Orphanet:3181", source="ORDO:3181/e"}
xref: Orphanet:3181 {source="MONDO:equivalentTo", source="OMIM:184400"}
xref: SCTID:79120002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015929 {source="Orphanet:3181"} ! thoracic malformation
property_value: exactMatch http://identifiers.org/meddra/10010455
property_value: exactMatch http://identifiers.org/mesh/C535802
property_value: exactMatch http://identifiers.org/omim/184400
property_value: exactMatch http://identifiers.org/snomedct/79120002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152438
property_value: exactMatch Orphanet:3181

[Term]
id: MONDO:0008483
name: stuttering, familial persistent, 1
synonym: "stammering" RELATED [OMIM:184450]
synonym: "STUT1" EXACT [MONDO:Lexical, OMIM:184450]
synonym: "stuttering, familial persistent, 1" RELATED [OMIM:184450]
synonym: "stuttering, familial persistent, 1; STUT1" RELATED [OMIM:184450]
xref: OMIM:184450 {source="MONDO:equivalentTo"}
is_a: MONDO:0000723 {source="DC-OMIM:184450", source="OMIM:184450"} ! stutter disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489627
property_value: exactMatch http://identifiers.org/omim/184450

[Term]
id: MONDO:0008484
name: stapes ankylosis with broad thumbs and toes
def: "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." [Orphanet:140917]
subset: ordo_malformation_syndrome {source="Orphanet:140917"}
synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [OMIM:184460]
synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460]
synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460]
synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917]
xref: ICD10:Q87.8 {source="Orphanet:140917", source="ORDO:140917/attributed", source="ORDO:140917/ntbt"}
xref: OMIM:184460 {source="ORDO:140917/e", source="Orphanet:140917", source="MONDO:equivalentTo"}
xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"}
xref: SCTID:719305006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C1866656 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="Orphanet:140917", source="MONDO:equivalentTo", source="OMIM:184460"}
is_a: MONDO:0019589 {source="Orphanet:140917"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/184460
property_value: exactMatch http://identifiers.org/snomedct/719305006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866656
property_value: exactMatch Orphanet:140917

[Term]
id: MONDO:0008485
name: sebocystomatosis
def: "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." [Orphanet:841]
subset: ordo_disease {source="Orphanet:841"}
synonym: "multiple sebaceous cysts" RELATED [GARD:0005003]
synonym: "multiplex steatocystoma" RELATED [GARD:0005003]
synonym: "sebaceous cysts, multiple" RELATED [OMIM:184500]
synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500]
synonym: "Steatocystoma multiplex" EXACT [Orphanet:841]
xref: GARD:0005003 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L72.2 {source="Orphanet:841", source="ORDO:841/specific", source="ORDO:841/e"}
xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="ORDO:841/e"}
xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"}
xref: SCTID:109433009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0259771 {source="Orphanet:841", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184500"}
xref: UMLS:C3671377 {source="Orphanet:841", source="MONDO:equivalentTo"}
is_a: MONDO:0019286 {source="Orphanet:841"} ! sebaceous gland anomaly
property_value: exactMatch http://identifiers.org/omim/184500
property_value: exactMatch http://identifiers.org/snomedct/109433009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259771
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3671377
property_value: exactMatch Orphanet:841

[Term]
id: MONDO:0008486
name: steatocystoma multiplex-natal teeth syndrome
def: "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." [Orphanet:3184]
subset: ordo_malformation_syndrome {source="Orphanet:3184"}
synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004]
synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510]
xref: GARD:0005004 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L72.2 {source="ORDO:3184/attributed", source="ORDO:3184/ntbt", source="Orphanet:3184"}
xref: MESH:C537487 {source="MONDO:equivalentTo", source="ORDO:3184/e", source="MONDO:ontobio", source="Orphanet:3184"}
xref: OMIM:184510 {source="MONDO:equivalentTo", source="ORDO:3184/e", source="Orphanet:3184"}
xref: Orphanet:3184 {source="MONDO:equivalentTo", source="OMIM:184510"}
xref: UMLS:C1866650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3184/e", source="Orphanet:3184", source="OMIM:184510"}
is_a: MONDO:0015336 {source="Orphanet:3184"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0021029 {source="OWLReasoner:2017", source="Orphanet:3184"} ! genetic sebaceous gland anomaly
property_value: exactMatch http://identifiers.org/mesh/C537487
property_value: exactMatch http://identifiers.org/omim/184510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866650
property_value: exactMatch Orphanet:3184

[Term]
id: MONDO:0008487
name: polycystic ovary syndrome
def: "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." [NCIT:P378]
synonym: "hyperandrogenemia" RELATED [OMIM:184700]
synonym: "multicystic ovaries" EXACT [DOID:11612]
synonym: "Pco1" RELATED [OMIM:184700]
synonym: "PCOS" EXACT [CSP2005:2587-6155, DOID:11612]
synonym: "Pcos" RELATED [OMIM:184700]
synonym: "PCOS1" RELATED [MONDO:Lexical, OMIM:184700]
synonym: "polycystic ovarian disease" EXACT [DOID:11612, NCIT:C27086]
synonym: "polycystic ovaries" EXACT [DOID:11612, ICD9CM_2006:256.4]
synonym: "polycystic ovary" EXACT [CSP2005:2587-6111, DOID:11612]
synonym: "polycystic ovary syndrome" EXACT [DOID:11612]
synonym: "polycystic ovary syndrome 1" RELATED [MONDO:Lexical, OMIM:184700]
synonym: "polycystic ovary syndrome 1; PCOS1" RELATED [OMIM:184700]
synonym: "Stein-Leventhal synd." EXACT [DOID:11612]
synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, MTHICD9_2006:256.4, NCIT:C26862, OMIM:184700]
xref: COHD:195501 {source="MONDO:equivalentTo"}
xref: DOID:11612 {source="EFO:0000660", source="MONDO:equivalentTo"}
xref: EFO:0000660 {source="DOID:11612", source="MONDO:equivalentTo"}
xref: ICD10:E28.2 {source="DOID:11612"}
xref: ICD9:256.4 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D011085 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26862 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:184700 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"}
xref: SCTID:69878008 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032460 {source="OMIM:184700", source="DOID:11612", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C26862"}
is_a: MONDO:0002254 {source="DOID:11612", source="MONDOLEX:0008487", source="NCIT:C26862"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005151 {source="EFO:0000660", source="MESH:D011085/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! endocrine system disease
property_value: closeMatch http://identifiers.org/snomedct/154714009
property_value: closeMatch http://identifiers.org/snomedct/190549002
property_value: closeMatch http://identifiers.org/snomedct/237055002
property_value: closeMatch http://identifiers.org/snomedct/237792009
property_value: closeMatch http://identifiers.org/snomedct/271199009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1299574
property_value: closeMatch Orphanet:3185
property_value: exactMatch DOID:11612
property_value: exactMatch http://identifiers.org/mesh/D011085
property_value: exactMatch http://identifiers.org/omim/184700
property_value: exactMatch http://identifiers.org/snomedct/69878008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032460
property_value: exactMatch NCIT:C26862

[Term]
id: MONDO:0008488
name: holoprosencephaly-radial heart renal anomalies syndrome
def: "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." [Orphanet:3186]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3186"}
synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727]
synonym: "STEINFELD syndrome" RELATED [OMIM:184705]
synonym: "Steinfeld syndrome" EXACT [Orphanet:3186]
xref: GARD:0002727 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3186/attributed", source="ORDO:3186/ntbt", source="Orphanet:3186"}
xref: MESH:C566655 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:184705 {source="MONDO:equivalentTo", source="GARD:0002727", source="ORDO:3186/e", source="Orphanet:3186"}
xref: Orphanet:3186 {source="MONDO:equivalentTo", source="OMIM:184705", source="GARD:0002727"}
xref: SCTID:716233007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1866649 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184705", source="Orphanet:3186"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3186", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3186"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019721 {source="Orphanet:3186"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C566655
property_value: exactMatch http://identifiers.org/omim/184705
property_value: exactMatch http://identifiers.org/snomedct/716233007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866649
property_value: exactMatch Orphanet:3186
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome xsd:anyURI {source="GARD:0002727"}

[Term]
id: MONDO:0008489
name: sternum, premature obliteration of sutures of
synonym: "sternum, premature obliteration of sutures of" EXACT [OMIM:184800]
xref: OMIM:184800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861485
property_value: exactMatch http://identifiers.org/omim/184800

[Term]
id: MONDO:0008490
name: Stickler syndrome type 3
def: "Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." [Orphanet:166100]
subset: gard_rare {source="GARD:0005021"}
subset: ordo_malformation_syndrome {source="Orphanet:166100"}
synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OSMED, heterozygous" RELATED [OMIM:184840]
synonym: "OSMEDA" RELATED [OMIM:184840]
synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" RELATED [OMIM:184840]
synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant; OSMEDA" RELATED [OMIM:184840]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" RELATED [OMIM:184840]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" RELATED [OMIM:184840]
synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021]
synonym: "Stickler syndrome, non-ocular type" EXACT [Orphanet:166100]
synonym: "Stickler syndrome, Nonocular type" RELATED [OMIM:184840]
synonym: "Stickler syndrome, type 3" RELATED [GARD:0005021]
synonym: "STICKLER syndrome, type III" RELATED [MONDO:Lexical, OMIM:184840]
synonym: "Stickler syndrome, type III, formerly" RELATED [OMIM:184840]
synonym: "STICKLER syndrome, type III; STL3" RELATED [OMIM:184840]
synonym: "STL3" RELATED [MONDO:Lexical, OMIM:184840]
xref: GARD:0005021 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="Orphanet:166100", source="ORDO:166100/attributed", source="ORDO:166100/ntbt"}
xref: MESH:C537494 {source="ORDO:166100/e", source="Orphanet:166100", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:184840 {source="ORDO:166100/e", source="Orphanet:166100", source="MONDO:equivalentTo"}
xref: Orphanet:166100 {source="MONDO:equivalentTo", source="OMIM:184840"}
is_a: MONDO:0015335 {source="Orphanet:166100"} ! orofacial clefting syndrome
is_a: MONDO:0019354 {source="DC-OMIM:184840", source="MONDO:Redundant"} ! Stickler syndrome
is_a: MONDO:0019687 {source="Orphanet:166100"} ! type 11 collagen-related bone disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:166100"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537494
property_value: exactMatch http://identifiers.org/omim/184840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861481
property_value: exactMatch Orphanet:166100
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5021/stickler-syndrome-type-3 xsd:anyURI {source="GARD:0005021"}

[Term]
id: MONDO:0008491
name: stiff-person syndrome
def: "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." [Orphanet:3198]
subset: ordo_disease {source="Orphanet:3198"}
synonym: "Moersch-Woltman syndrome" EXACT [Orphanet:3198]
synonym: "Morsch Woltman syndrome" RELATED [GARD:0005023]
synonym: "progressive encephalomyelitis with rigidity" RELATED [OMIM:184850]
synonym: "SMS" RELATED [Orphanet:3198]
synonym: "SPS" RELATED [MONDO:Lexical, OMIM:184850, Orphanet:3198]
synonym: "Stiff man syndrome" EXACT [Orphanet:3198]
synonym: "stiff man syndrome" EXACT [CSP2005:2057-3403, DOID:13366]
synonym: "Stiff Person syndrome" EXACT [NCIT:C85170]
synonym: "Stiff person syndrome and related disorders" RELATED [Orphanet:3198]
synonym: "Stiff-Man syndrome" RELATED [OMIM:184850]
synonym: "Stiff-man syndrome" EXACT [DOID:13366, ICD9CM_2006:333.91]
synonym: "stiff-person syndrome" EXACT [MONDO:Lexical, OMIM:184850]
synonym: "STIFF-PERSON syndrome; SPS" RELATED [OMIM:184850]
synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850]
xref: COHD:379008 {source="MONDO:equivalentTo"}
xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"}
xref: EFO:0007498 {source="MONDO:equivalentTo"}
xref: GARD:0005023 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G25.8 {source="ORDO:3198/ntbt", source="Orphanet:3198"}
xref: ICD10:G25.82 {source="DOID:13366"}
xref: ICD9:333.91 {source="MONDO:equivalentTo", source="i2s", source="DOID:13366"}
xref: MedDRA:10042044 {source="Orphanet:3198", source="ORDO:3198/e"}
xref: MESH:D016750 {source="MONDO:equivalentTo", source="DOID:13366", source="EFO:0007498"}
xref: NCIT:C85170 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.20", source="DOID:13366"}
xref: OMIM:184850 {source="MONDO:equivalentTo", source="DOID:13366", source="Orphanet:3198", source="ORDO:3198/e"}
xref: Orphanet:3198 {source="MONDO:equivalentTo", source="OMIM:184850"}
xref: SCTID:5217008 {source="MONDO:equivalentTo", source="DOID:13366", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085292 {source="NCIT:C85170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184850", source="DOID:13366", source="Orphanet:3198", source="ORDO:3198/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0008491", source="NCIT:C85170"} ! syndromic disease
is_a: MONDO:0015888 {source="Orphanet:3198"} ! other rare diabetes mellitus
is_a: MONDO:0015916 {source="Orphanet:3198"} ! rare neuroinflammatory or neuroimmunological disease
property_value: exactMatch DOID:13366
property_value: exactMatch http://identifiers.org/meddra/10042044
property_value: exactMatch http://identifiers.org/mesh/D016750
property_value: exactMatch http://identifiers.org/omim/184850
property_value: exactMatch http://identifiers.org/snomedct/5217008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085292
property_value: exactMatch NCIT:C85170
property_value: exactMatch Orphanet:3198

[Term]
id: MONDO:0008492
name: stiff skin syndrome
def: "Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position ( flexion contractures ). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth ( hypertrichosis ), loss of body fat ( lipodystrophy ), scoliosis , muscle weakness, slow growth, and short stature . Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing . Treatment is based on the symptoms of each individual and may include physical therapy ." [https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome]
subset: gard_rare {source="GARD:0005025"}
subset: ordo_disease {source="Orphanet:2833"}
synonym: "SSKS" RELATED [MONDO:Lexical, OMIM:184900]
synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900]
synonym: "STIFF skin syndrome; SSKS" RELATED [OMIM:184900]
xref: GARD:0005025 {source="MONDO:equivalentTo"}
xref: ICD10:L98.8 {source="ORDO:2833/attributed", source="ORDO:2833/ntbt", source="Orphanet:2833"}
xref: MESH:C566112 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118636 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:184900 {source="MONDO:equivalentTo", source="ORDO:2833/e", source="Orphanet:2833"}
xref: Orphanet:2833 {source="OMIM:184900", source="MONDO:equivalentTo"}
xref: SCTID:765187004 {source="MONDO:equivalentTo"}
xref: UMLS:C1861456 {source="OMIM:184900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118636", source="Orphanet:2833"}
is_a: MONDO:0019299 {source="Orphanet:2833"} ! unclassified genetic skin disorder
property_value: exactMatch http://identifiers.org/mesh/C566112
property_value: exactMatch http://identifiers.org/omim/184900
property_value: exactMatch http://identifiers.org/snomedct/765187004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861456
property_value: exactMatch NCIT:C118636
property_value: exactMatch Orphanet:2833
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome xsd:anyURI {source="GARD:0005025"}

[Term]
id: MONDO:0008493
name: overhydrated hereditary stomatocytosis
def: "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." [Orphanet:3203]
subset: ordo_disease {source="Orphanet:3203"}
synonym: "OHS" RELATED [MONDO:Lexical, OMIM:185000]
synonym: "OHST" RELATED [OMIM:185000]
synonym: "overhydrated hereditary stomatocytosis" EXACT [MONDO:Lexical, OMIM:185000]
synonym: "OVERHYDRATED hereditary stomatocytosis; OHS" RELATED [OMIM:185000]
synonym: "OVERHYDRATED hereditary stomatocytosis; OHST" RELATED [OMIM:185000]
synonym: "Potassium sodium disorder of erythrocyte" RELATED [GARD:0004183]
synonym: "Potassium-sodium disorder of erythrocyte" RELATED [OMIM:185000]
synonym: "stomatocytosis 1" RELATED [OMIM:185000]
synonym: "stomatocytosis I" RELATED [GARD:0004183]
xref: GARD:0004183 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D58.8 {source="Orphanet:3203", source="ORDO:3203/attributed", source="ORDO:3203/ntbt"}
xref: MESH:C566111 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185000 {source="ORDO:3203/e", source="Orphanet:3203", source="MONDO:equivalentTo"}
xref: Orphanet:3203 {source="MONDO:equivalentTo", source="OMIM:185000"}
xref: SCTID:722125003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1861455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185000"}
is_a: MONDO:0020102 {source="Orphanet:3203", source="linkedlifedata"} ! hereditary stomatocytosis
property_value: exactMatch http://identifiers.org/mesh/C566111
property_value: exactMatch http://identifiers.org/omim/185000
property_value: exactMatch http://identifiers.org/snomedct/722125003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861455
property_value: exactMatch Orphanet:3203

[Term]
id: MONDO:0008494
name: hereditary cryohydrocytosis with normal stomatin
def: "Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." [Orphanet:398088]
subset: ordo_disease {source="Orphanet:398088"}
synonym: "ChC" RELATED [OMIM:185020]
synonym: "cryohydrocytosis" RELATED [OMIM:185020]
synonym: "cryohydrocytosis; ChC" RELATED [OMIM:185020]
synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020]
synonym: "stomatocytosis, cold-sensitive" RELATED [OMIM:185020]
xref: GARD:0010184 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D58.8 {source="Orphanet:398088", source="ORDO:398088/attributed", source="ORDO:398088/ntbt"}
xref: MESH:C535827 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="ORDO:398088/e"}
xref: Orphanet:398088 {source="MONDO:equivalentTo"}
xref: UMLS:C1861453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185020"}
is_a: MONDO:0012204 ! familial pseudohyperkalemia
property_value: exactMatch http://identifiers.org/mesh/C535827
property_value: exactMatch http://identifiers.org/omim/185020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861453
property_value: exactMatch Orphanet:398088

[Term]
id: MONDO:0008495
name: platelet storage pool deficiency
def: "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome , Chediak-Higashi syndrome , thrombocytopenia-absent radius (TAR) syndrome , and Wiskott-Aldrich syndrome . Treatment is symptomatic." [https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency]
subset: gard_rare {source="GARD:0005034"}
subset: ordo_disease {source="Orphanet:734"}
synonym: "alpha delta granule deficiency" RELATED [Orphanet:734]
synonym: "alpha dense granule deficiency" EXACT [Orphanet:734]
synonym: "combined alpha-delta platelet storage pool deficiency" EXACT [Orphanet:734]
synonym: "dense body defect" EXACT [DOID:2223]
synonym: "platelet dense granule deficiency" EXACT [DOID:2223]
synonym: "platelet storage pool defect" EXACT [DOID:2223]
synonym: "platelet storage pool diseases" RELATED [GARD:0005034]
synonym: "storage pool platelet disease" RELATED [OMIM:185050]
xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"}
xref: EFO:1001112 {source="MONDO:equivalentTo"}
xref: GARD:0005034 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="Orphanet:734", source="ORDO:734/attributed", source="ORDO:734/ntbt"}
xref: MESH:D010981 {source="EFO:1001112", source="DOID:2223", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185050 {source="DOID:2223", source="Orphanet:734", source="MONDO:equivalentTo"}
xref: Orphanet:734 {source="MONDO:equivalentTo"}
xref: SCTID:234474009 {source="DOID:2223", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.69/1.16"}
is_a: MONDO:0018795 {source="Orphanet:734"} ! syndromic constitutional thrombocytopenia
property_value: closeMatch http://identifiers.org/snomedct/128099001
property_value: closeMatch http://identifiers.org/snomedct/129655003
property_value: closeMatch http://identifiers.org/snomedct/9417000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032197
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543679
property_value: closeMatch Orphanet:98454
property_value: exactMatch DOID:2223
property_value: exactMatch http://identifiers.org/mesh/D010981
property_value: exactMatch http://identifiers.org/omim/185050
property_value: exactMatch http://identifiers.org/snomedct/234474009
property_value: exactMatch Orphanet:734
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency xsd:anyURI {source="GARD:0005034"}

[Term]
id: MONDO:0008496
name: storm syndrome
subset: gard_rare {source="GARD:0005035"}
synonym: "pleiotropic, autosomal dominant disorder affecting connective tissue" RELATED [GARD:0005035]
synonym: "storm syndrome" EXACT [OMIM:185069]
xref: GARD:0005035 {source="MONDO:equivalentTo"}
xref: MESH:C566109 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185069 {source="MONDO:equivalentTo"}
xref: UMLS:C1861452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185069"}
is_a: MONDO:0003847 {source="MESH:C566109/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566109
property_value: exactMatch http://identifiers.org/omim/185069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861452
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome xsd:anyURI {source="GARD:0005035"}

[Term]
id: MONDO:0008497
name: Stormorken syndrome
def: "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3204]
subset: ordo_disease {source="Orphanet:3204"}
synonym: "Stormorken syndrome" EXACT [MONDO:Lexical, OMIM:185070, Orphanet:3204]
synonym: "Stormorken syndrome; STRMK" RELATED [OMIM:185070]
synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [Orphanet:3204]
synonym: "STRMK" RELATED [MONDO:Lexical, OMIM:185070]
synonym: "Thrombocytopathy asplenia miosis" RELATED [GARD:0005188]
synonym: "thrombocytopathy, asplenia and miosis" EXACT [DOID:0060354]
synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [OMIM:185070]
synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204]
synonym: "york Platelet syndrome" RELATED [OMIM:185070]
xref: DOID:0060354 {source="MONDO:equivalentTo"}
xref: GARD:0005188 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D69.8 {source="Orphanet:3204", source="ORDO:3204/attributed", source="ORDO:3204/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566108 {source="DOID:0060354", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="ORDO:3204/e", source="MONDO:equivalentTo"}
xref: Orphanet:3204 {source="DOID:0060354", source="OMIM:185070", source="MONDO:equivalentTo"}
xref: SCTID:711407000 {source="DOID:0060354", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1861451 {source="DOID:0060354", source="OMIM:185070", source="Orphanet:3204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018795 {source="Orphanet:3204"} ! syndromic constitutional thrombocytopenia
property_value: exactMatch DOID:0060354
property_value: exactMatch http://identifiers.org/mesh/C566108
property_value: exactMatch http://identifiers.org/omim/185070
property_value: exactMatch http://identifiers.org/snomedct/711407000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861451
property_value: exactMatch Orphanet:3204

[Term]
id: MONDO:0008498
name: strabismus, susceptibility to
subset: predisposition
synonym: "strabismus, susceptibility to" EXACT [OMIM:185100]
synonym: "strabismus, susceptibility to, 1" RELATED [OMIM:185100]
xref: OMIM:185100 {source="MONDO:equivalentTo"}
xref: UMLS:C1861449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861450
property_value: exactMatch http://identifiers.org/omim/185100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861449

[Term]
id: MONDO:0008499
name: short stature-wormian bones-dextrocardia syndrome
def: "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." [Orphanet:2863]
subset: ordo_malformation_syndrome {source="Orphanet:2863"}
synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [OMIM:185120]
synonym: "short stature wormian bones dextrocardia" RELATED [GARD:0004856]
synonym: "Stratton Parker syndrome" RELATED [GARD:0004856]
synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120]
synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863]
xref: GARD:0004856 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:2863", source="ORDO:2863/attributed", source="ORDO:2863/ntbt"}
xref: MESH:C566105 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185120 {source="Orphanet:2863", source="ORDO:2863/e", source="MONDO:equivalentTo"}
xref: Orphanet:2863 {source="MONDO:equivalentTo", source="OMIM:185120"}
xref: SCTID:763631006 {source="MONDO:equivalentTo"}
xref: UMLS:C1861448 {source="Orphanet:2863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185120", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0043007 {source="Orphanet:2863"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C566105
property_value: exactMatch http://identifiers.org/omim/185120
property_value: exactMatch http://identifiers.org/snomedct/763631006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861448
property_value: exactMatch Orphanet:2863

[Term]
id: MONDO:0008500
name: striae distensae, familial
synonym: "striae distensae, familial" EXACT [OMIM:185200]
xref: MESH:C566104 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185200 {source="MONDO:equivalentTo"}
xref: UMLS:C1861447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566104
property_value: exactMatch http://identifiers.org/omim/185200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861447

[Term]
id: MONDO:0008501
name: Sturge-Weber syndrome
def: "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." [Orphanet:3205]
subset: gard_rare {source="GARD:0007706"}
subset: ordo_malformation_syndrome {source="Orphanet:3205"}
synonym: "Encephalofacial angiomatosis" EXACT [Orphanet:3205]
synonym: "Encephalotrigeminal angiomatosis" EXACT [Orphanet:3205]
synonym: "Encephalotrigeminal syndrome" EXACT [NCIT:C3391]
synonym: "fourth phacomatosis" RELATED [GARD:0007706]
synonym: "leptomeningeal angiomatosis" RELATED [GARD:0007706]
synonym: "meningeal capillary angiomatosis" RELATED [GARD:0007706]
synonym: "Sturge Weber syndrome" RELATED [GARD:0007706]
synonym: "Sturge-Weber disease" EXACT [NCIT:C3391]
synonym: "Sturge-Weber syndrome" EXACT [MONDO:Lexical, OMIM:185300]
synonym: "STURGE-WEBER syndrome; SWS" RELATED [OMIM:185300]
synonym: "Sturge-Weber-Dimitri syndrome" EXACT [Orphanet:3205]
synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [Orphanet:3205]
synonym: "Sturge-Weber-Krabbe syndrome" EXACT [Orphanet:3205]
synonym: "SWS" EXACT [MONDO:Lexical, OMIM:185300, Orphanet:3205]
synonym: "SWS type I - Facial and leptomeningeal angiomas" RELATED [GARD:0007706]
synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD:0007706]
synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706]
xref: GARD:0007706 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="ORDO:3205/ntbt", source="Orphanet:3205", source="ORDO:3205/inclusion"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10042265 {source="ORDO:3205/e", source="Orphanet:3205"}
xref: MedDRA:10057653 {source="ORDO:3205/e", source="Orphanet:3205"}
xref: MESH:D013341 {source="ORDO:3205/e", source="MONDO:equivalentTo", source="Orphanet:3205"}
xref: NCIT:C3391 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:185300 {source="ORDO:3205/e", source="MONDO:equivalentTo", source="Orphanet:3205"}
xref: Orphanet:3205 {source="MONDO:equivalentTo", source="OMIM:185300"}
xref: SCTID:19886006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038505 {source="NCIT:C3391", source="ORDO:3205/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3205", source="OMIM:185300"}
xref: UMLS:CN204001 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015501 {source="Orphanet:3205"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015658 {source="Orphanet:3205"} ! cerebral diseases of vascular origin with epilepsy
is_a: MONDO:0020222 {source="Orphanet:3205"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0042983 {source="MESH:D013341", source="NCIT:C3391", source="https://www.hopkinsmedicine.org", source="indirect", source="linkedlifedata"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0015145 ! neurovascular malformation
relationship: disease_has_feature MONDO:0020182 {source="Orphanet:3205-modified"} ! palpebral tumor with a vascular malformation
relationship: disease_has_feature MONDO:0020200 {source="Orphanet:3205-modified"} ! conjunctival hemangioma or hemolymphangioma
relationship: excluded_subClassOf MONDO:0015145 {source="Orphanet:3205"} ! neurovascular malformation
relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:3205"} ! syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0015651 {source="Orphanet:3205"} ! neurocutaneous syndrome with epilepsy
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:3205"} ! rare capillary malformation with associated anomalies
property_value: exactMatch http://identifiers.org/meddra/10042265
property_value: exactMatch http://identifiers.org/meddra/10057653
property_value: exactMatch http://identifiers.org/mesh/D013341
property_value: exactMatch http://identifiers.org/omim/185300
property_value: exactMatch http://identifiers.org/snomedct/19886006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204001
property_value: exactMatch NCIT:C3391
property_value: exactMatch Orphanet:3205
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome xsd:anyURI {source="GARD:0007706"}

[Term]
id: MONDO:0008502
name: sulfhemoglobinemia, congenital
synonym: "sulfhemoglobinemia, congenital" EXACT [OMIM:185460]
xref: MESH:C566102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185460 {source="MONDO:equivalentTo"}
xref: UMLS:C1861437 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185460"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006988 ! sulfhemoglobinemia
property_value: exactMatch http://identifiers.org/mesh/C566102
property_value: exactMatch http://identifiers.org/omim/185460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861437

[Term]
id: MONDO:0008503
name: Worster-Drought syndrome
def: "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." [Orphanet:3465]
subset: gard_rare {source="GARD:0005598"}
subset: ordo_malformation_syndrome {source="Orphanet:3465"}
synonym: "congenital suprabulbar paresis" EXACT [Orphanet:3465]
synonym: "suprabulbar paresis congenital" RELATED [GARD:0005598]
synonym: "suprabulbar paresis, congenital" RELATED [OMIM:185480]
synonym: "Worster Drought syndrome" RELATED [GARD:0005598]
synonym: "Worster-Drought syndrome" EXACT [OMIM:185480]
xref: GARD:0005598 {source="MONDO:equivalentTo"}
xref: ICD10:G80.8 {source="Orphanet:3465", source="ORDO:3465/ntbt"}
xref: MESH:C536747 {source="ORDO:3465/e", source="Orphanet:3465", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185480 {source="ORDO:3465/e", source="Orphanet:3465", source="MONDO:equivalentTo"}
xref: Orphanet:3465 {source="OMIM:185480", source="MONDO:equivalentTo"}
xref: SCTID:716335003 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C0796204 {source="ORDO:3465/e", source="Orphanet:3465", source="OMIM:185480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:3465"} ! nervous system disorder
relationship: disease_has_feature MONDO:0001071 {source="MESH:C536747"} ! intellectual disability
relationship: disease_has_feature MONDO:0006497 {source="MONDO:cjm"} ! cerebral palsy
relationship: disease_has_feature MONDO:0008890 {source="MESH:C536747"} ! progressive bulbar palsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536747
property_value: exactMatch http://identifiers.org/omim/185480
property_value: exactMatch http://identifiers.org/snomedct/716335003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796204
property_value: exactMatch Orphanet:3465
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome xsd:anyURI {source="GARD:0005598"}

[Term]
id: MONDO:0008504
name: supravalvular aortic stenosis (disease)
def: "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." [Orphanet:3193]
subset: ordo_morphological_anomaly {source="Orphanet:3193"}
synonym: "aortic supravalvular stenosis" RELATED [GARD:0000743]
synonym: "supra-valvular aortic stenosis" EXACT [DOID:1929, MTHICD9_2006:747.22]
synonym: "supravalvar aortic stenosis, Eisenberg type" RELATED [OMIM:185500]
synonym: "supravalvular aortic stenosis" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:185500]
synonym: "supravalvular aortic stenosis; SVAS" RELATED [OMIM:185500]
synonym: "SVAS" EXACT [MONDO:Lexical, OMIM:185500, Orphanet:3193]
xref: DOID:1929 {source="MONDO:equivalentTo"}
xref: GARD:0000743 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0004381 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q25.3 {source="ORDO:3193/inclusion", source="DOID:1929", source="ORDO:3193/ntbt", source="Orphanet:3193"}
xref: MedDRA:10042598 {source="ORDO:3193/e", source="Orphanet:3193"}
xref: OMIM:185500 {source="DOID:1929", source="MONDO:equivalentTo", source="ORDO:3193/e", source="Orphanet:3193"}
xref: Orphanet:3193 {source="MONDO:equivalentTo", source="OMIM:185500"}
xref: SCTID:268185002 {source="DOID:1929", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0003499 {source="MEDGEN:kboom-pr97-c98", source="DOID:1929", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3193/e", source="Orphanet:3193", source="OMIM:185500"}
is_a: MONDO:0004978 {source="DOID:1929"} ! aortic stenosis
is_a: MONDO:0017131 {source="Orphanet:3193"} ! genetic cardiac anomaly
is_a: MONDO:0020286 {source="Orphanet:3193"} ! aortic malformation
property_value: closeMatch http://identifiers.org/snomedct/204436002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936909
property_value: exactMatch DOID:1929
property_value: exactMatch http://identifiers.org/meddra/10042598
property_value: exactMatch http://identifiers.org/mesh/D021921
property_value: exactMatch http://identifiers.org/omim/185500
property_value: exactMatch http://identifiers.org/snomedct/268185002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305147
property_value: exactMatch NCIT:C85176
property_value: exactMatch Orphanet:3193

[Term]
id: MONDO:0008505
name: surface antigen, glycoprotein 75
synonym: "surface antigen, glycoprotein 75" EXACT [OMIM:185540]
synonym: "surface antigen, glycoprotein type 75" EXACT [MONDORULE:2, OMIM:185540]
synonym: "surface glycoprotein 75" RELATED [OMIM:185540]
xref: OMIM:185540 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861423
property_value: exactMatch http://identifiers.org/omim/185540

[Term]
id: MONDO:0008506
name: symphalangism of toes
synonym: "symphalangism of toes" EXACT [OMIM:185600]
xref: MESH:C566101 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861418 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185600"}
is_a: MONDO:0000151 {source="DC-OMIM:185600"} ! symphalangism
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566101
property_value: exactMatch http://identifiers.org/omim/185600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861418

[Term]
id: MONDO:0008507
name: surface polypeptides, anonymous
synonym: "Spa2" RELATED [OMIM:185610]
synonym: "Spa5" RELATED [OMIM:185610]
synonym: "surface polypeptides, anonymous" EXACT [OMIM:185610]
xref: OMIM:185610 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861417
property_value: exactMatch http://identifiers.org/omim/185610

[Term]
id: MONDO:0008508
name: symphalangism, C. S. Lewis type
subset: n_of_one {source="MONDO:cjm"}
synonym: "symphalangism, C. S. Lewis type" EXACT [OMIM:185650]
synonym: "thumbs, stiff" RELATED [OMIM:185650]
xref: MESH:C566100 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185650 {source="MONDO:equivalentTo"}
xref: UMLS:C1861404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185650"}
is_a: MONDO:0000151 {source="DC-OMIM:185650"} ! symphalangism
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566100
property_value: exactMatch http://identifiers.org/omim/185650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861404

[Term]
id: MONDO:0008509
name: distal symphalangism (disease)
def: "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." [Orphanet:3248]
subset: ordo_morphological_anomaly {source="Orphanet:3248"}
synonym: "distal symphalangism" EXACT [MONDO:ambiguous]
synonym: "Sym2" RELATED [OMIM:185700]
synonym: "symphalangism, distal" RELATED [OMIM:185700]
xref: HP:0100263 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q70.9 {source="Orphanet:3248", source="ORDO:3248/attributed", source="ORDO:3248/ntbt"}
xref: MESH:C566099 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185700 {source="Orphanet:3248", source="ORDO:3248/e", source="MONDO:equivalentTo"}
xref: Orphanet:3248 {source="OMIM:185700", source="MONDO:equivalentTo"}
xref: UMLS:C1861401 {source="OMIM:185700", source="Orphanet:3248", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000151 {source="DC-OMIM:185700"} ! symphalangism
is_a: MONDO:0017429 {source="Orphanet:3248"} ! joint formation defects
property_value: exactMatch http://identifiers.org/mesh/C566099
property_value: exactMatch http://identifiers.org/omim/185700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861401
property_value: exactMatch Orphanet:3248

[Term]
id: MONDO:0008510
name: symphalangism with multiple anomalies of hands and feet
def: "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." [Orphanet:3246]
subset: gard_rare {source="GARD:0005077"}
subset: ordo_malformation_syndrome {source="Orphanet:3246"}
synonym: "Learman syndrome" EXACT [Orphanet:3246]
synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750]
xref: GARD:0005077 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:3246", source="ORDO:3246/attributed", source="ORDO:3246/ntbt"}
xref: MESH:C566098 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:185750 {source="Orphanet:3246", source="ORDO:3246/e", source="MONDO:equivalentTo"}
xref: Orphanet:3246 {source="MONDO:equivalentTo", source="OMIM:185750"}
xref: SCTID:732955001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861391 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:3246", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185750"}
is_a: MONDO:0017434 {source="Orphanet:3246"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019715 {source="Orphanet:3246"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/mesh/C566098
property_value: exactMatch http://identifiers.org/omim/185750
property_value: exactMatch http://identifiers.org/snomedct/732955001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861391
property_value: exactMatch Orphanet:3246
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet xsd:anyURI {source="GARD:0005077"}

[Term]
id: MONDO:0008511
name: proximal symphalangism (disease)
def: "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." [Orphanet:3250]
subset: ordo_malformation_syndrome {source="Orphanet:3250"}
subset: prototype_pattern
synonym: "Cushing's symphalangism" EXACT [DOID:0050788]
synonym: "hereditary absence of proximal interphalangeal joints" RELATED [GARD:0008182]
synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800]
synonym: "proximal symphalangism" EXACT [MONDO:ambiguous]
synonym: "Strasburger-Hawkins-Eldridge syndrome" RELATED [GARD:0008182]
synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" RELATED [GARD:0008182]
synonym: "symphalangism, Cushing type" EXACT [Orphanet:3250]
synonym: "vessel’s syndrome" RELATED [GARD:0008182]
xref: DOID:0050788 {source="MONDO:equivalentTo"}
xref: GARD:0008182 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0100264 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q70.9 {source="ORDO:3250/attributed", source="ORDO:3250/ntbt", source="Orphanet:3250"}
xref: KEGG:H00484 {source="DOID:0050788", source="MONDO:equivalentTo"}
xref: MESH:C536223 {source="MONDO:equivalentTo", source="ORDO:3250/e", source="MONDO:ontobio", source="Orphanet:3250"}
xref: OMIMPS:185800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:3250 {source="OMIM:185800", source="MONDO:equivalentTo"}
xref: UMLS:C1861385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3250/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3250"}
is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism
is_a: MONDO:0000426 {source="DOID:0050788", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019715 {source="Orphanet:3250"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch DOID:0050788
property_value: exactMatch http://identifiers.org/mesh/C536223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861385
property_value: exactMatch Orphanet:3250

[Term]
id: MONDO:0008512
name: syndactyly type 1
def: "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." [Orphanet:93402]
subset: ordo_morphological_anomaly {source="Orphanet:93402"}
synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [OMIM:185900]
synonym: "craniosynostosis, Philadelphia type" RELATED [OMIM:185900]
synonym: "Sd1" RELATED [OMIM:185900]
synonym: "SDTY1" RELATED [GARD:0005081]
synonym: "syndactyly, type 1" RELATED [OMIM:185900]
synonym: "Zygodactyly" RELATED [OMIM:185900]
xref: GARD:0005081 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q70.0 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"}
xref: ICD10:Q70.1 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"}
xref: ICD10:Q70.2 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"}
xref: ICD10:Q70.3 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"}
xref: OMIM:185900 {source="ORDO:93402/e", source="MONDO:equivalentTo", source="Orphanet:93402"}
xref: Orphanet:93402 {source="OMIM:185900", source="MONDO:equivalentTo"}
xref: SCTID:715723008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.22"}
xref: UMLS:C1861380 {source="MEDGEN:kboom-pr98-c99", source="OMIM:185900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93402"}
xref: UMLS:C4275033 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DC-OMIM:185900"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0019530 {source="DC-OMIM:185900", source="Orphanet:93402"} ! non-syndromic syndactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832590
property_value: exactMatch http://identifiers.org/omim/185900
property_value: exactMatch http://identifiers.org/snomedct/715723008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275033
property_value: exactMatch Orphanet:93402

[Term]
id: MONDO:0008513
name: synpolydactyly type 1
def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:295195"}
synonym: "HOXD13 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic synpolydactyly caused by mutation in HOXD13" EXACT [MONDO:design_pattern]
synonym: "SD2, Vordingborg type" EXACT [Orphanet:295195]
synonym: "SD2a" EXACT [Orphanet:295195]
synonym: "SPD, Vordingborg type" EXACT [Orphanet:295195]
synonym: "SPD1" EXACT [MONDO:Lexical, OMIM:186000, Orphanet:295195]
synonym: "syndactyly, type 2" RELATED [OMIM:186000]
synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000]
synonym: "synpolydactyly 1; SPD1" RELATED [OMIM:186000]
synonym: "synpolydactyly type 1" EXACT [MONDORULE:1, OMIM:186000]
synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000]
synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195]
xref: ICD10:Q70.0 {source="Orphanet:295195", source="ORDO:295195/nd", source="ORDO:295195/attributed"}
xref: ICD10:Q70.2 {source="Orphanet:295195", source="ORDO:295195/nd", source="ORDO:295195/attributed"}
xref: OMIM:186000 {source="Orphanet:295195", source="ORDO:295195/e", source="MONDO:equivalentTo"}
xref: Orphanet:295195 {source="MONDO:equivalentTo", source="OMIM:186000"}
xref: UMLS:CN203278 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000722 {source="DC-OMIM:186000", source="MONDO:Redundant"} ! non-syndromic synpolydactyly
is_a: MONDO:0019683 {source="MONDOLEX:0008513", source="Orphanet:295195", source="todo - check this"} ! syndactyly type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861367
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861368
property_value: exactMatch http://identifiers.org/omim/186000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203278
property_value: exactMatch Orphanet:295195

[Term]
id: MONDO:0008514
name: syndactyly type 3
def: "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." [Orphanet:93404]
subset: gard_rare {source="GARD:0005088"}
subset: ordo_morphological_anomaly {source="Orphanet:93404"}
synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "Ring and Little finger syndactyly" RELATED [OMIM:186100]
synonym: "SD3" EXACT [Orphanet:93404]
synonym: "Sdty3" RELATED [OMIM:186100]
synonym: "syndactyly of fingers 4 and 5" EXACT [OMIM:186100, Orphanet:93404]
synonym: "syndactyly of fingers four and five" RELATED [GARD:0005088]
synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088]
synonym: "syndactyly, type 3" RELATED [OMIM:186100]
synonym: "syndactyly, type III" RELATED [OMIM:186100]
xref: GARD:0005088 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.1 {source="ORDO:93404/attributed", source="ORDO:93404/ntbt", source="Orphanet:93404"}
xref: MESH:C538154 {source="MONDO:equivalentTo", source="ORDO:93404/e", source="MONDO:ontobio", source="Orphanet:93404"}
xref: OMIM:186100 {source="MONDO:equivalentTo", source="ORDO:93404/e", source="Orphanet:93404"}
xref: Orphanet:93404 {source="MONDO:equivalentTo", source="OMIM:186100"}
xref: SCTID:715725001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1861366 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93404/e", source="OMIM:186100", source="Orphanet:93404"}
is_a: MONDO:0019530 {source="DC-OMIM:186100", source="MONDO:Redundant", source="Orphanet:93404"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/mesh/C538154
property_value: exactMatch http://identifiers.org/omim/186100
property_value: exactMatch http://identifiers.org/snomedct/715725001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861366
property_value: exactMatch Orphanet:93404
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 xsd:anyURI {source="GARD:0005088"}

[Term]
id: MONDO:0008515
name: syndactyly type 4
def: "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." [Orphanet:93405]
subset: gard_rare {source="GARD:0004434"}
subset: ordo_morphological_anomaly {source="Orphanet:93405"}
synonym: "Haas type syndactyly" RELATED [OMIM:186200]
synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic syndactyly caused by mutation in LMBR1" EXACT [MONDO:design_pattern]
synonym: "polysyndactyly type Haas" RELATED [GARD:0004434]
synonym: "polysyndactyly, Haas type" EXACT [OMIM:186200, Orphanet:93405]
synonym: "Sd4" RELATED [OMIM:186200]
synonym: "SDTY4" RELATED [MONDO:Lexical, OMIM:186200]
synonym: "syndactyly, type 4" RELATED [OMIM:186200]
synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200]
synonym: "syndactyly, type IV; SDTY4" RELATED [OMIM:186200]
xref: GARD:0004434 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.4 {source="ORDO:93405/attributed", source="ORDO:93405/ntbt", source="Orphanet:93405"}
xref: MESH:C566092 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186200 {source="MONDO:equivalentTo", source="ORDO:93405/e", source="Orphanet:93405"}
xref: Orphanet:93405 {source="MONDO:equivalentTo", source="OMIM:186200"}
xref: SCTID:719158007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1861355 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93405", source="OMIM:186200"}
is_a: MONDO:0019530 {source="DC-OMIM:186200", source="MONDO:Redundant", source="Orphanet:93405"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/mesh/C566092
property_value: exactMatch http://identifiers.org/omim/186200
property_value: exactMatch http://identifiers.org/snomedct/719158007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861355
property_value: exactMatch Orphanet:93405
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 xsd:anyURI {source="GARD:0004434"}

[Term]
id: MONDO:0008516
name: syndactyly type 5
def: "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." [Orphanet:93406]
subset: gard_rare {source="GARD:0005089"}
subset: ordo_morphological_anomaly {source="Orphanet:93406"}
synonym: "postaxial syndactyly with metacarpal synostosis" EXACT [Orphanet:93406]
synonym: "SD5" EXACT [Orphanet:93406]
synonym: "SDTY5" RELATED [OMIM:186300]
synonym: "syndactyly with associated metacarpal and metatarsal fusion" RELATED [GARD:0005089]
synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300]
synonym: "syndactyly, type 5" RELATED [OMIM:186300]
synonym: "syndactyly, type V" RELATED [OMIM:186300]
synonym: "syndactyly, type V; SDTY5" RELATED [OMIM:186300]
xref: GARD:0005089 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.0 {source="ORDO:93406/nd", source="ORDO:93406/attributed", source="Orphanet:93406"}
xref: ICD10:Q70.2 {source="ORDO:93406/nd", source="ORDO:93406/attributed", source="Orphanet:93406"}
xref: MESH:C538155 {source="MONDO:equivalentTo", source="ORDO:93406/e", source="MONDO:ontobio", source="Orphanet:93406"}
xref: OMIM:186300 {source="MONDO:equivalentTo", source="ORDO:93406/e", source="Orphanet:93406"}
xref: Orphanet:93406 {source="MONDO:equivalentTo", source="OMIM:186300"}
xref: SCTID:719159004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019530 {source="DC-OMIM:186300", source="Orphanet:93406"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/mesh/C538155
property_value: exactMatch http://identifiers.org/omim/186300
property_value: exactMatch http://identifiers.org/snomedct/719159004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861348
property_value: exactMatch Orphanet:93406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 xsd:anyURI {source="GARD:0005089"}

[Term]
id: MONDO:0008517
name: syndactyly-polydactyly-ear lobe syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3259"}
synonym: "hallux syndactyly ulnar polydactyly abnormal ear lobes" RELATED [GARD:0005090]
synonym: "Spel syndrome" RELATED [OMIM:186350]
synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350]
xref: GARD:0005090 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C566091 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186350 {source="Orphanet:3259", source="ORDO:3259/e", source="MONDO:equivalentTo"}
xref: Orphanet:3259 {source="MONDO:equivalentTo", source="OMIM:186350"}
xref: UMLS:C1861347 {source="Orphanet:3259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186350"}
is_a: MONDO:0017434 {source="Orphanet:3259"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C566091
property_value: exactMatch http://identifiers.org/omim/186350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861347
property_value: exactMatch Orphanet:3259

[Term]
id: MONDO:0008518
name: calcaneonavicular coalition
def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." [DOID:14762, http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome]
synonym: "calcaneonavicular coalition" EXACT [OMIM:186400]
synonym: "multiple synostosis syndrome" EXACT [DOID:14762]
synonym: "synostoses, tarsal, carpal and digital" EXACT [DOID:14762]
synonym: "synostoses, tarsal, carpal, and digital" RELATED [OMIM:186400]
xref: DOID:14762 {source="MONDO:equivalentTo"}
xref: GARD:0009863 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538156 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186400 {source="MONDO:equivalentTo", source="DOID:14762"}
xref: SCTID:62628008 {source="MONDO:equivalentTo", source="DOID:14762", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175700 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:14762"}
is_a: MONDO:0001411 {source="DOID:14762", source="MESH:C538156"} ! synostosis
is_a: MONDO:0008521 {source="ORDO:1412/btnt"} ! tarsal-carpal coalition syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876184
property_value: exactMatch DOID:14762
property_value: exactMatch http://identifiers.org/mesh/C538156
property_value: exactMatch http://identifiers.org/omim/186400
property_value: exactMatch http://identifiers.org/snomedct/62628008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175700

[Term]
id: MONDO:0008519
name: multiple synostoses syndrome 1
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [OMIM:186500]
synonym: "facioaudiosymphalangism syndrome" RELATED [OMIM:186500]
synonym: "multiple synostoses syndrome 1" EXACT [MONDO:Lexical, OMIM:186500]
synonym: "multiple synostoses syndrome 1; SYNS1" RELATED [OMIM:186500]
synonym: "multiple synostoses syndrome caused by mutation in NOG" EXACT []
synonym: "multiple synostoses syndrome caused by mutation in nog" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 1" EXACT [MONDORULE:1, OMIM:186500]
synonym: "NOG multiple synostoses syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nog multiple synostoses syndrome" EXACT [MONDO:design_pattern]
synonym: "symphalangism brachydactyly syndrome" RELATED [GARD:0003836]
synonym: "symphalangism-brachydactyly syndrome" RELATED [OMIM:186500]
synonym: "synostoses multiple with brachydactyly" RELATED [GARD:0003836]
synonym: "synostoses, multiple, with brachydactyly" RELATED [OMIM:186500]
synonym: "SYNS1" RELATED [MONDO:Lexical, OMIM:186500]
synonym: "Wl syndrome" RELATED [OMIM:186500]
xref: GARD:0003836 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:186500 {source="MONDO:equivalentTo"}
xref: UMLS:C0342282 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186500"}
is_a: MONDO:0017923 {source="DC-OMIM:186500", source="MONDO:Redundant", source="OMIM:186500"} ! multiple synostoses syndrome
property_value: exactMatch http://identifiers.org/omim/186500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342282

[Term]
id: MONDO:0008520
name: brachydactyly-elbow wrist dysplasia syndrome
def: "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." [Orphanet:1275]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1275"}
synonym: "brachydactyly elbow wrist dysplasia" RELATED [GARD:0000966]
synonym: "brachydactyly with Joint dysplasia" RELATED [OMIM:186550]
synonym: "brachydactyly with joint dysplasia" RELATED [GARD:0000966]
synonym: "brachydactyly-joint dysplasia syndrome" EXACT [Orphanet:1275]
synonym: "carpal synostosis with dysplastic elbow joints and brachydactyly" RELATED [GARD:0000966]
synonym: "LBNBG" RELATED [MONDO:Lexical, OMIM:186550]
synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275]
synonym: "LIEBENBERG syndrome; LBNBG" RELATED [OMIM:186550]
synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550]
xref: GARD:0000966 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:1275", source="ORDO:1275/attributed", source="ORDO:1275/ntbt"}
xref: MESH:C566090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186550 {source="Orphanet:1275", source="ORDO:1275/e", source="MONDO:equivalentTo", source="GARD:0000966"}
xref: Orphanet:1275 {source="MONDO:equivalentTo", source="OMIM:186550", source="GARD:0000966"}
xref: SCTID:764437006 {source="MONDO:equivalentTo"}
xref: UMLS:C1861313 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186550"}
is_a: MONDO:0019066 {source="Orphanet:1275", source="Orphanet:1275/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C566090
property_value: exactMatch http://identifiers.org/omim/186550
property_value: exactMatch http://identifiers.org/snomedct/764437006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861313
property_value: exactMatch Orphanet:1275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia xsd:anyURI {source="GARD:0000966"}

[Term]
id: MONDO:0008521
name: tarsal-carpal coalition syndrome
def: "Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges." [Orphanet:1412]
subset: gard_rare {source="GARD:0009225"}
subset: ordo_malformation_syndrome {source="Orphanet:1412"}
synonym: "synostosis of talus and calcaneus with short stature" RELATED [OMIM:186570]
synonym: "tarsal carpal coalition syndrome" RELATED [GARD:0009225]
synonym: "tarsal-carpal coalition syndrome" EXACT [MONDO:Lexical, OMIM:186570]
synonym: "tarsal-carpal coalition syndrome; TCC" RELATED [OMIM:186570]
synonym: "TCC" RELATED [MONDO:Lexical, OMIM:186570]
xref: DOID:0050789 {source="MONDO:equivalentTo"}
xref: EFO:0008965 {source="MONDO:equivalentTo"}
xref: GARD:0009225 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="ORDO:1412/attributed", source="ORDO:1412/ntbt", source="Orphanet:1412"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:186570 {source="ORDO:1412/e", source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789"}
xref: Orphanet:1412 {source="MONDO:equivalentTo", source="OMIM:186570"}
xref: SCTID:702312009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1861305 {source="ORDO:1412/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186570", source="Orphanet:1412"}
is_a: MONDO:0000426 {source="DOID:0050789", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0019715 {source="Orphanet:1412"} ! syndrome with synostosis or other joint formation defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861306
property_value: exactMatch DOID:0050789
property_value: exactMatch http://identifiers.org/mesh/C536943
property_value: exactMatch http://identifiers.org/omim/186570
property_value: exactMatch http://identifiers.org/snomedct/702312009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861305
property_value: exactMatch Orphanet:1412
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome xsd:anyURI {source="GARD:0009225"}

[Term]
id: MONDO:0008522
name: synovial chondromatosis, familial, with dwarfism
subset: gard_rare {source="GARD:0007720"}
synonym: "synovial chondromatosis, familial with dwarfism" RELATED [GARD:0007720]
synonym: "synovial chondromatosis, familial, with dwarfism" EXACT [OMIM:186575]
xref: GARD:0007720 {source="MONDO:equivalentTo"}
xref: MESH:C566087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186575 {source="MONDO:equivalentTo"}
xref: UMLS:C1861304 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186575"}
is_a: MONDO:0003847 {source="MESH:C566087/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566087
property_value: exactMatch http://identifiers.org/omim/186575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861304
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism xsd:anyURI {source="GARD:0007720"}

[Term]
id: MONDO:0008523
name: Blau syndrome
def: "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." [Orphanet:90340]
subset: gard_rare {source="GARD:0000304"}
subset: ordo_disease {source="Orphanet:90340"}
synonym: "ACUG" RELATED [GARD:0000304]
synonym: "arthrocutaneouveal granulomatosis" EXACT [DOID:0050678, OMIM:186580]
synonym: "Blau syndrome" EXACT [MONDO:Lexical, OMIM:186580]
synonym: "Blau syndrome; BLAUS" RELATED [OMIM:186580]
synonym: "BLAUS" RELATED [MONDO:Lexical, OMIM:186580]
synonym: "granulomatosis, familial juvenile systemic" RELATED [OMIM:186580]
synonym: "granulomatosis, familial, Blau type" RELATED [OMIM:186580]
synonym: "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" RELATED [OMIM:186580]
synonym: "Jabs syndrome" EXACT [DOID:0050678, OMIM:186580]
synonym: "pediatric granulomatous arthritis" EXACT DEPRECATED [NCIT:C116794]
synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304]
synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580]
xref: DOID:0050678 {source="MONDO:equivalentTo"}
xref: GARD:0000304 {source="MONDO:equivalentTo"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:714.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071755 {source="ORDO:90340/e", source="Orphanet:90340"}
xref: MESH:C538157 {source="MONDO:equivalentTo"}
xref: NCIT:C116794 {source="DOID:0050678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:186580 {source="ORDO:90340/e", source="Orphanet:90340", source="DOID:0050678", source="MONDO:equivalentTo"}
xref: Orphanet:90340 {source="OMIM:186580", source="MONDO:equivalentTo"}
xref: SCTID:699861000 {source="MONDO:kboom-pr-0.88/0.75/0.12", source="DOID:0050678", source="MONDO:equivalentTo"}
xref: UMLS:C1861303 {source="OMIM:186580", source="NCBI:mim2gene_medline", source="NCIT:C116794", source="Orphanet:90340", source="MONDO:equivalentTo"}
is_a: MONDO:0015939 ! systemic autoimmune disease
is_a: MONDO:0017023 {source="Orphanet:90340"} ! secondary interstitial lung disease specific to childhood associated with a granulomatous disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017259 {source="Orphanet:90340"} ! systemic diseases with anterior uveitis
is_a: MONDO:0017261 {source="Orphanet:90340"} ! systemic diseases with panuveitis
is_a: MONDO:0017369 {source="Orphanet:90340"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:90340"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017955 {source="Orphanet:90340"} ! granulomatous autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:0050678", source="linkedlifedata"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116794"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0018798 {source="Orphanet:90340"} ! other genetic dermis disorder
relationship: excluded_subClassOf MONDO:0019295 {source="Orphanet:90340"} ! obsolete other dermis disorder
property_value: exactMatch DOID:0050678
property_value: exactMatch http://identifiers.org/meddra/10071755
property_value: exactMatch http://identifiers.org/mesh/C538157
property_value: exactMatch http://identifiers.org/omim/186580
property_value: exactMatch http://identifiers.org/snomedct/699861000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861303
property_value: exactMatch NCIT:C116794
property_value: exactMatch Orphanet:90340
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/304/blau-syndrome xsd:anyURI {source="GARD:0000304"}

[Term]
id: MONDO:0008524
name: syringomas, multiple
synonym: "syringomas, multiple" EXACT [OMIM:186600]
xref: MESH:C566085 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861302 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566085
property_value: exactMatch http://identifiers.org/omim/186600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861302

[Term]
id: MONDO:0008525
name: syringomyelia, isolated
synonym: "syringomyelia, isolated" EXACT [OMIM:186700]
synonym: "syringomyelia, noncommunicating isolated" RELATED [OMIM:186700]
xref: MESH:C566084 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186700 {source="MONDO:equivalentTo"}
is_a: MONDO:0020508 ! primary syringomyelia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861301
property_value: exactMatch http://identifiers.org/mesh/C566084
property_value: exactMatch http://identifiers.org/omim/186700

[Term]
id: MONDO:0008526
name: talonavicular coalition
subset: gard_rare {source="GARD:0010062"}
synonym: "talonavicular coalition" EXACT [OMIM:186750]
xref: GARD:0010062 {source="MONDO:equivalentTo"}
xref: MESH:C536895 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:186750 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861296
property_value: exactMatch http://identifiers.org/mesh/C536895
property_value: exactMatch http://identifiers.org/omim/186750
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition xsd:anyURI {source="GARD:0010062"}

[Term]
id: MONDO:0008527
name: tarsal coalition
synonym: "tarsal coalition" EXACT [OMIM:186850]
synonym: "tarsal fusion" RELATED [OMIM:186850]
xref: ICD9:755.67 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:186850 {source="MONDO:equivalentTo"}
xref: SCTID:27173008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265654
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1406822
property_value: exactMatch http://identifiers.org/omim/186850
property_value: exactMatch http://identifiers.org/snomedct/27173008

[Term]
id: MONDO:0008528
name: tear protein, anodal
synonym: "tear protein, anodal" EXACT [OMIM:186890]
xref: OMIM:186890 {source="MONDO:equivalentTo"}
xref: UMLS:C1861283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186890"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/186890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861283

[Term]
id: MONDO:0008529
name: T-cell Subgroups, non-HLA-linked
synonym: "T-cell Subgroups, non-HLA-linked" EXACT [OMIM:186950]
xref: OMIM:186950 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861277
property_value: exactMatch http://identifiers.org/omim/186950

[Term]
id: MONDO:0008530
name: teeth, odd shapes of
synonym: "conical teeth, multiple" RELATED [OMIM:187000]
synonym: "Lobodontia" RELATED [OMIM:187000]
synonym: "teeth, odd shapes of" EXACT [OMIM:187000]
xref: MESH:C566076 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187000 {source="MONDO:equivalentTo"}
xref: UMLS:C1861274 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861275
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861276
property_value: exactMatch http://identifiers.org/mesh/C566076
property_value: exactMatch http://identifiers.org/omim/187000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861274

[Term]
id: MONDO:0008531
name: obsolete T-complex locus TCP10B
synonym: "T-complex locus TCP10B" EXACT [MONDO:Lexical, OMIM:187030]
synonym: "T-complex locus TCP10B; TCP10B" RELATED [OMIM:187030]
synonym: "TCP10B" RELATED [MONDO:Lexical, OMIM:187030]
xref: OMIM:187030 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861271
property_value: exactMatch http://identifiers.org/omim/187030
is_obsolete: true

[Term]
id: MONDO:0008532
name: teeth present at birth (disease)
synonym: "Natal teeth" RELATED [OMIM:187050]
synonym: "teeth present AT birth" RELATED [OMIM:187050]
synonym: "teeth present at birth" EXACT [MONDO:ambiguous]
xref: HP:0000695 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIM:187050 {source="MONDO:equivalentTo"}
xref: SCTID:21995002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.03"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027443
property_value: exactMatch http://identifiers.org/omim/187050
property_value: exactMatch http://identifiers.org/snomedct/21995002

[Term]
id: MONDO:0008533
name: teeth, supernumerary
def: "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." [MESH:D014096]
synonym: "teeth, supernumerary" EXACT [OMIM:187100]
xref: ICD10:K00.1 {source="MONDO:equivalentTo"}
xref: MESH:D014096 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187100 {source="MONDO:equivalentTo"}
xref: SCTID:8666004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040457
property_value: exactMatch http://identifiers.org/mesh/D014096
property_value: exactMatch http://identifiers.org/omim/187100
property_value: exactMatch http://identifiers.org/snomedct/8666004

[Term]
id: MONDO:0008534
name: generalized essential telangiectasia
subset: ordo_disease {source="Orphanet:280774"}
synonym: "GET" EXACT [Orphanet:280774]
synonym: "Hbt" RELATED [OMIM:187260]
synonym: "telangiectasia, generalized essential" RELATED [OMIM:187260]
synonym: "telangiectasia, hereditary benign" RELATED [OMIM:187260]
xref: OMIM:187260 {source="MONDO:equivalentTo"}
xref: Orphanet:280774 {source="MONDO:equivalentTo"}
xref: SCTID:238763007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0473555 {source="MEDGEN:kboom-pr98-c99", source="OMIM:187260", source="MONDO:equivalentTo", source="ORDO:280774/e", source="Orphanet:280774"}
is_a: MONDO:0019293 {source="Orphanet:280774", source="linkedlifedata/inferred"} ! skin vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406502
property_value: exactMatch http://identifiers.org/omim/187260
property_value: exactMatch http://identifiers.org/snomedct/238763007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473555
property_value: exactMatch Orphanet:280774

[Term]
id: MONDO:0008535
name: telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber
synonym: "ENG-related Hereditary hemorrhagic telangiectasia" RELATED [GTR:AN0195329]
synonym: "Hereditary hemorrhagic telangiectasia type 1" RELATED [GTR:AN0097748]
synonym: "HHT" RELATED [MONDO:Lexical, OMIM:187300]
synonym: "HHT1" RELATED [GTR:AN0097750, OMIM:187300]
synonym: "ORW disease" RELATED [OMIM:187300]
synonym: "Osler Weber Rendu syndrome type 1" RELATED [GTR:AN0097757]
synonym: "Osler-Rendu-Weber disease" RELATED [OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber" EXACT [MONDO:Lexical, OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER; HHT" RELATED [OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, type 1" RELATED [OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, type 1; HHT1" RELATED [OMIM:187300]
xref: GTR:AN0097748 {source="UMLS:CN034812"}
xref: GTR:AN0097750 {source="UMLS:CN034812"}
xref: GTR:AN0097757 {source="UMLS:CN034812"}
xref: GTR:AN0195329 {source="UMLS:CN034812"}
xref: OMIM:187300 {source="MONDO:equivalentTo"}
xref: UMLS:CN034812 {source="MONDO:equivalentTo"}
is_a: MONDO:0019180 {source="DC-OMIM:187300", source="MONDOLEX:0008535", source="OMIM:187300"} ! hereditary hemorrhagic telangiectasia
property_value: exactMatch http://identifiers.org/omim/187300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034812

[Term]
id: MONDO:0008536
name: temperature-sensitive lethal mutation
synonym: "temperature-sensitive lethal mutation" EXACT [OMIM:187340]
xref: OMIM:187340 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861242
property_value: exactMatch http://identifiers.org/omim/187340

[Term]
id: MONDO:0008537
name: telecanthus
subset: ordo_group_of_disorders {source="Orphanet:98575"}
synonym: "telecanthus" EXACT [OMIM:187350]
xref: ICD10:Q10.3 {source="Orphanet:98575", source="ORDO:98575/attributed", source="ORDO:98575/ntbt"}
xref: MESH:C562941 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187350 {source="MONDO:equivalentTo"}
xref: Orphanet:98575 {source="MONDO:equivalentTo"}
is_a: MONDO:0020163 {source="Orphanet:98575"} ! canthal anomaly
property_value: exactMatch http://identifiers.org/mesh/C562941
property_value: exactMatch http://identifiers.org/omim/187350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0423113
property_value: exactMatch Orphanet:98575

[Term]
id: MONDO:0008538
name: temporal arteritis
def: "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." [Orphanet:397]
subset: ordo_disease {source="Orphanet:397"}
synonym: "arteritis cranialis" RELATED [GARD:0009615]
synonym: "arteritis temporalis" RELATED [GARD:0009615]
synonym: "cranial arteritis" RELATED [OMIM:187360]
synonym: "GCA" RELATED [GARD:0009615]
synonym: "giant cell arteritis" EXACT [CSP2005:0617-5624, DOID:13375, ICD9CM_2006:446.5, NCIT:C35065, OMIM:187360]
synonym: "Horton disease" EXACT [Orphanet:397]
synonym: "Horton's arteritis" RELATED [GARD:0009615]
synonym: "Horton's disease" EXACT [DOID:13375, MTHICD9_2006:446.5]
synonym: "Horton's giant cell arteritis" RELATED [GARD:0009615]
synonym: "Horton's temporal arteritis" RELATED [GARD:0009615]
synonym: "Horton’s disease" RELATED [GARD:0009615]
synonym: "Horton’s syndrome" RELATED [GARD:0009615]
synonym: "inflammation of temporal artery" EXACT []
synonym: "polymyalgia rheumatica" RELATED [OMIM:187360]
synonym: "temporal arteritis" EXACT [OMIM:187360, Orphanet:397]
synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"}
xref: EFO:1001209 {source="MONDO:equivalentTo"}
xref: GARD:0009615 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M31.6 {source="ORDO:397/ntbt", source="Orphanet:397", source="EFO:1001209"}
xref: ICD9:446.5 {source="DOID:13375"}
xref: MedDRA:10018250 {source="ORDO:397/e", source="Orphanet:397"}
xref: MedDRA:10043207 {source="ORDO:397/e", source="Orphanet:397", source="EFO:1001209"}
xref: NCIT:C35065 {source="MONDO:equivalentTo", source="DOID:13375", source="MONDO:kboom-pr-0.98/0.86/2.63", source="EFO:1001209"}
xref: OMIM:187360 {source="MONDO:equivalentTo", source="DOID:13375", source="ORDO:397/e", source="Orphanet:397", source="EFO:1001209"}
xref: Orphanet:397 {source="OMIM:187360", source="MONDO:equivalentTo"}
xref: SCTID:400130008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.19", source="DOID:13375", source="EFO:1001209"}
xref: UMLS:C1956391 {source="NCIT:C35065", source="NCBI:mim2gene_medline", source="OMIM:187360", source="MONDO:equivalentTo", source="ORDO:397/e", source="Orphanet:397"}
is_a: MONDO:0002341 {source="NCIT:C35065"} ! granulomatous angiitis
is_a: MONDO:0003346 {source="DOID:13375"} ! central nervous system vasculitis
is_a: MONDO:0005042 ! head disease
is_a: MONDO:0015488 {source="Orphanet:397"} ! predominantly large-vessel vasculitis
is_a: MONDO:0019724 {source="Orphanet:397"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/155442004
property_value: closeMatch http://identifiers.org/snomedct/195354005
property_value: closeMatch http://identifiers.org/snomedct/195355006
property_value: closeMatch http://identifiers.org/snomedct/195356007
property_value: closeMatch http://identifiers.org/snomedct/195357003
property_value: closeMatch http://identifiers.org/snomedct/414341000
property_value: closeMatch http://identifiers.org/snomedct/87511001
property_value: exactMatch DOID:13375
property_value: exactMatch http://identifiers.org/meddra/10018250
property_value: exactMatch http://identifiers.org/meddra/10043207
property_value: exactMatch http://identifiers.org/mesh/D013700
property_value: exactMatch http://identifiers.org/omim/187360
property_value: exactMatch http://identifiers.org/snomedct/400130008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956391
property_value: exactMatch NCIT:C35065
property_value: exactMatch Orphanet:397

[Term]
id: MONDO:0008539
name: obsolete distal arthrogryposis type 10
is_obsolete: true
replaced_by: MONDO:0016675

[Term]
id: MONDO:0008540
name: extensor tendons of finger anomalies
subset: ordo_malformation_syndrome {source="Orphanet:3294"}
synonym: "anomalous insertion of extensor tendons of fingers" RELATED [GARD:0002597]
synonym: "Hapnes Boman Skeie syndrome" RELATED [GARD:0002597]
synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294]
synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390]
xref: GARD:0002597 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C566068 {source="MONDO:equivalentTo"}
xref: OMIM:187390 {source="MONDO:equivalentTo", source="ORDO:3294/e", source="Orphanet:3294"}
xref: Orphanet:3294 {source="OMIM:187390", source="MONDO:equivalentTo"}
xref: UMLS:C2931376 {source="MONDO:equivalentTo", source="Orphanet:3294", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015226 {source="Orphanet:3294"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861237
property_value: exactMatch http://identifiers.org/mesh/C566068
property_value: exactMatch http://identifiers.org/omim/187390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931376
property_value: exactMatch Orphanet:3294

[Term]
id: MONDO:0008541
name: spermatic cord torsion
def: "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." [NCIT:P378]
synonym: "testicular torsion" EXACT [DOID:11996, NCIT:C26885, OMIM:187400]
synonym: "torsion of testicle" EXACT [DOID:11996, MTHICD9_2006:608.2]
synonym: "torsion of testicular cord" RELATED [OMIM:187400]
synonym: "torsion of testis" EXACT [DOID:11996, ICD9CM_2006:608.2]
xref: COHD:435315 {source="MONDO:equivalentTo"}
xref: DOID:11996 {source="MONDO:equivalentTo"}
xref: ICD10:N44.0 {source="DOID:11996"}
xref: ICD10:N44.00 {source="DOID:11996"}
xref: ICD10:N44.02 {source="DOID:11996"}
xref: ICD9:608.2 {source="DOID:11996", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:608.20 {source="DOID:11996", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D013086 {source="DOID:11996", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26885 {source="DOID:11996", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:187400 {source="DOID:11996", source="MONDO:equivalentTo"}
xref: SCTID:81996005 {source="DOID:11996", source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C0037856 {source="DOID:11996", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C26885", source="OMIM:187400"}
is_a: MONDO:0002329 {source="DOID:11996", source="NCIT:C26885/inferred", source="linkedlifedata"} ! testicular disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/snomedct/155937003
property_value: closeMatch http://identifiers.org/snomedct/198045001
property_value: closeMatch http://identifiers.org/snomedct/198046000
property_value: closeMatch http://identifiers.org/snomedct/198048004
property_value: closeMatch http://identifiers.org/snomedct/49198006
property_value: exactMatch DOID:11996
property_value: exactMatch http://identifiers.org/mesh/D013086
property_value: exactMatch http://identifiers.org/omim/187400
property_value: exactMatch http://identifiers.org/snomedct/81996005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037856
property_value: exactMatch NCIT:C26885

[Term]
id: MONDO:0008542
name: tetralogy of fallot
def: "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." [Orphanet:3303]
subset: clingen
subset: gard_rare {source="GARD:0002245"}
subset: ordo_malformation_syndrome {source="Orphanet:3303"}
synonym: "Fallot tetralogy" RELATED [GARD:0002245]
synonym: "tetralogy of fallot" EXACT [MONDO:Lexical, OMIM:187500]
synonym: "tetralogy of FALLOT; TOF" RELATED [OMIM:187500]
synonym: "TOF" RELATED [MONDO:Lexical, OMIM:187500]
synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419, MTHICD9_2006:745.2]
xref: COHD:320835 {source="MONDO:equivalentTo"}
xref: DOID:6419 {source="MONDO:equivalentTo"}
xref: GARD:0002245 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.3 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419"}
xref: ICD9:745.2 {source="MONDO:equivalentTo", source="DOID:6419", source="i2s"}
xref: MedDRA:10016193 {source="Orphanet:3303", source="ORDO:3303/e"}
xref: MESH:D013771 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419", source="MONDO:ontobio"}
xref: NCIT:C84505 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:6419"}
xref: OMIM:187500 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419"}
xref: Orphanet:3303 {source="MONDO:equivalentTo", source="OMIM:187500"}
xref: SCTID:86299006 {source="MONDO:equivalentTo", source="DOID:6419", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0039685 {source="Orphanet:3303", source="NCBI:mim2gene_medline", source="NCIT:C84505", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419", source="OMIM:187500"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease
is_a: MONDO:0016581 {source="Orphanet:3303"} ! conotruncal heart malformations
property_value: closeMatch http://identifiers.org/snomedct/156913009
property_value: closeMatch http://identifiers.org/snomedct/204305006
property_value: closeMatch http://identifiers.org/snomedct/204307003
property_value: closeMatch http://identifiers.org/snomedct/268177006
property_value: exactMatch DOID:6419
property_value: exactMatch http://identifiers.org/meddra/10016193
property_value: exactMatch http://identifiers.org/mesh/D013771
property_value: exactMatch http://identifiers.org/omim/187500
property_value: exactMatch http://identifiers.org/snomedct/86299006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039685
property_value: exactMatch NCIT:C84505
property_value: exactMatch Orphanet:3303
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot xsd:anyURI {source="GARD:0002245"}

[Term]
id: MONDO:0008543
name: tetralogy of fallot and glaucoma
subset: gard_rare {source="GARD:0010107"}
synonym: "familial tetralogy of fallot and glaucoma" RELATED [GARD:0010107]
synonym: "tetralogy of fallot and glaucoma" EXACT [OMIM:187501]
xref: GARD:0010107 {source="MONDO:equivalentTo"}
xref: MESH:C536501 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187501 {source="MONDO:equivalentTo"}
xref: UMLS:C1861234 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187501"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536501
property_value: exactMatch http://identifiers.org/omim/187501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861234
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma xsd:anyURI {source="GARD:0010107"}

[Term]
id: MONDO:0008544
name: tetramelic monodactyly
def: "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." [Orphanet:2564]
subset: gard_rare {source="GARD:0003707"}
subset: ordo_malformation_syndrome {source="Orphanet:2564"}
synonym: "Sommer Hines syndrome" RELATED [GARD:0003707]
synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564]
synonym: "tetramelic monodactyly" EXACT [OMIM:187510]
synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707]
xref: GARD:0003707 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:2564", source="ORDO:2564/attributed", source="ORDO:2564/ntbt"}
xref: MESH:C566066 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187510 {source="Orphanet:2564", source="ORDO:2564/e", source="MONDO:equivalentTo"}
xref: Orphanet:2564 {source="MONDO:equivalentTo", source="OMIM:187510"}
xref: UMLS:C1861233 {source="Orphanet:2564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187510", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017432 {source="Orphanet:2564"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2564", source="Orphanet:2564/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C566066
property_value: exactMatch http://identifiers.org/omim/187510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861233
property_value: exactMatch Orphanet:2564
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly xsd:anyURI {source="GARD:0003707"}

[Term]
id: MONDO:0008545
name: thalassemia, beta+, silent allele
synonym: "thalassemia, beta+, silent allele" EXACT [OMIM:187550]
xref: MESH:C566065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187550 {source="MONDO:equivalentTo"}
xref: UMLS:C1861232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187550"}
is_a: MONDO:0019402 {source="DC-OMIM:187550", source="MESH:C566065"} ! beta thalassemia
property_value: exactMatch http://identifiers.org/mesh/C566065
property_value: exactMatch http://identifiers.org/omim/187550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861232

[Term]
id: MONDO:0008546
name: thanatophoric dysplasia type 1
def: "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." [Orphanet:1860]
subset: ordo_clinical_subtype {source="Orphanet:1860"}
synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [OMIM:187600]
synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [OMIM:187600]
synonym: "PLSD San Diego type" RELATED [GARD:0004889]
synonym: "TD1" EXACT [MONDO:Lexical, OMIM:187600, Orphanet:1860]
synonym: "thanatophoric dwarfism" RELATED [OMIM:187600]
synonym: "thanatophoric dwarfism 1" RELATED [GARD:0009295]
synonym: "thanatophoric dwarfism type 1" EXACT [Orphanet:1860]
synonym: "thanatophoric dysplasia" RELATED [OMIM:187600]
synonym: "thanatophoric dysplasia type I" RELATED [GARD:0009295]
synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583]
synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600]
synonym: "thanatophoric dysplasia, type I; TD1" RELATED [OMIM:187600]
synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583]
xref: GARD:0004889 {source="MONDO:equivalentTo"}
xref: GARD:0009295 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.1 {source="Orphanet:1860", source="ORDO:1860/attributed", source="ORDO:1860/ntbt"}
xref: NCIT:C98583 {source="MONDO:equivalentTo"}
xref: OMIM:187600 {source="Orphanet:1860", source="ORDO:1860/e", source="MONDO:equivalentTo"}
xref: Orphanet:1860 {source="MONDO:equivalentTo", source="OMIM:187600"}
xref: UMLS:C1300256 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C98583"}
xref: UMLS:C1868678 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187600"}
is_a: MONDO:0014658 ! severe achondroplasia-developmental delay-acanthosis nigricans syndrome
is_a: MONDO:0017042 {source="DC-OMIM:187600", source="NCIT:C98583", source="Orphanet:1860"} ! thanatophoric dysplasia
property_value: closeMatch http://identifiers.org/omim/270230
property_value: exactMatch http://identifiers.org/omim/187600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300256
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931282
property_value: exactMatch NCIT:C98583
property_value: exactMatch Orphanet:1860

[Term]
id: MONDO:0008547
name: thanatophoric dysplasia type 2
def: "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." []
subset: gard_rare {source="GARD:0001402"}
subset: ordo_clinical_subtype {source="Orphanet:93274"}
synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [OMIM:187601]
synonym: "cloverleaf skull-micromelic bone dysplasia syndrome" EXACT [Orphanet:93274]
synonym: "TD2" EXACT [MONDO:Lexical, OMIM:187601, Orphanet:93274]
synonym: "thanatophoric dwarfism - cloverleaf skull" RELATED [GARD:0001402]
synonym: "thanatophoric dwarfism type 2" EXACT [Orphanet:93274]
synonym: "thanatophoric dwarfism-cloverleaf skull syndrome" EXACT [Orphanet:93274]
synonym: "thanatophoric dysplasia type II" RELATED [GARD:0001402]
synonym: "thanatophoric dysplasia with Kleeblattschaedel" RELATED [OMIM:187601]
synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" RELATED [OMIM:187601]
synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584]
synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601]
synonym: "thanatophoric dysplasia, type II; TD2" RELATED [OMIM:187601]
synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584]
xref: GARD:0001402 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.1 {source="Orphanet:93274", source="ORDO:93274/attributed", source="ORDO:93274/ntbt"}
xref: ICD9:742.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536508 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98584 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: OMIM:187601 {source="Orphanet:93274", source="MONDO:equivalentTo", source="ORDO:93274/e"}
xref: Orphanet:93274 {source="MONDO:equivalentTo", source="OMIM:187601"}
xref: SCTID:389158007 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C1300257 {source="Orphanet:93274", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98584", source="MEDGEN:kboom-pr94-c94", source="OMIM:187601"}
xref: UMLS:CN206542 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017042 {source="DC-OMIM:187601", source="MESH:C536508", source="NCIT:C98584", source="Orphanet:93274", source="linkedlifedata"} ! thanatophoric dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834928
property_value: exactMatch http://identifiers.org/mesh/C536508
property_value: exactMatch http://identifiers.org/omim/187601
property_value: exactMatch http://identifiers.org/snomedct/389158007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206542
property_value: exactMatch NCIT:C98584
property_value: exactMatch Orphanet:93274
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 xsd:anyURI {source="GARD:0001402"}

[Term]
id: MONDO:0008548
name: theophylline Biotransformation
synonym: "theophylline Biotransformation" EXACT [OMIM:187650]
xref: OMIM:187650 {source="MONDO:equivalentTo"}
xref: UMLS:C1861211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187650"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/187650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861211

[Term]
id: MONDO:0008549
name: thoracic dysostosis, isolated
synonym: "thoracic dysostosis, isolated" EXACT [OMIM:187750]
xref: MESH:C566063 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187750 {source="MONDO:equivalentTo"}
xref: UMLS:C1861204 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187750"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566063
property_value: exactMatch http://identifiers.org/omim/187750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861204

[Term]
id: MONDO:0008550
name: obsolete thoracolaryngopelvic dysplasia
is_obsolete: true
replaced_by: MONDO:0008551

[Term]
id: MONDO:0008551
name: thoracolaryngopelvic dysplasia
def: "Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." [Orphanet:3317]
subset: ordo_malformation_syndrome {source="Orphanet:3317"}
synonym: "autosomal dominant thoracolaryngopelvic dysplasia" RELATED [GARD:0005184]
synonym: "Barnes syndrome" EXACT [OMIM:187760, Orphanet:3317]
synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760]
synonym: "THORACOLARYNGOPELVIC dysplasia; TLPD" RELATED [OMIM:187760]
synonym: "THORACOPELVIC dysostosis" RELATED [OMIM:187770]
synonym: "TLPD" RELATED [MONDO:Lexical, OMIM:187760]
xref: GARD:0005184 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.2 {source="ORDO:3317/attributed", source="ORDO:3317/ntbt", source="Orphanet:3317"}
xref: MESH:C536517 {source="MONDO:equivalentTo", source="ORDO:3317/e", source="Orphanet:3317"}
xref: OMIM:187760 {source="ORDO:3317/btnt", source="MONDO:equivalentTo", source="Orphanet:3317"}
xref: OMIM:187770 {source="MONDO:equivalentTo", source="ORDO:3317/e", source="Orphanet:3317"}
xref: Orphanet:3317 {source="MONDO:equivalentTo", source="OMIM:187770", source="OMIM:187760"}
xref: SCTID:723556008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861197 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3317/e", source="OMIM:187760", source="Orphanet:3317"}
is_a: MONDO:0015929 {source="Orphanet:3317"} ! thoracic malformation
is_a: MONDO:0015930 {source="Orphanet:3317"} ! respiratory malformation
is_a: MONDO:0019691 {source="Orphanet:3317"} ! short rib dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861196
property_value: exactMatch http://identifiers.org/mesh/C536517
property_value: exactMatch http://identifiers.org/omim/187760
property_value: exactMatch http://identifiers.org/omim/187770
property_value: exactMatch http://identifiers.org/snomedct/723556008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861197
property_value: exactMatch Orphanet:3317

[Term]
id: MONDO:0008552
name: platelet-type bleeding disorder 16
def: "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." [DOID:0060691, PMID:18065693, PMID:21454453, PMID:9834222]
synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [DOID:0060691]
synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:0060691]
synonym: "BDPLT16" RELATED [MONDO:Lexical, OMIM:187800]
synonym: "bleeding disorder, platelet-type, 16" RELATED [MONDO:Lexical, OMIM:187800]
synonym: "bleeding disorder, platelet-type, 16; BDPLT16" RELATED [OMIM:187800]
synonym: "Glanzmann thrombasthenia, autosomal dominant" RELATED [OMIM:187800]
synonym: "thrombasthenia of Glanzmann and Naegeli, autosomal dominant" RELATED [OMIM:187800]
xref: DOID:0060691 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="DOID:0060691"}
xref: MESH:C566061 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:187800 {source="MONDO:equivalentTo", source="DOID:0060691"}
xref: UMLS:C1861195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187800"}
is_a: MONDO:0000009 {source="DC-OMIM:187800", source="MONDOLEX:0008552", source="OMIM:187800"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 {source="DOID:0060691", source="MESH:C566061/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
property_value: exactMatch DOID:0060691
property_value: exactMatch http://identifiers.org/mesh/C566061
property_value: exactMatch http://identifiers.org/omim/187800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861195

[Term]
id: MONDO:0008553
name: platelet-type bleeding disorder 17
def: "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." [NCIT:C142084]
synonym: "BDPLT17" EXACT [DOID:0111049, MONDO:Lexical, OMIM:187900]
synonym: "bleeding disorder, platelet-type 17" EXACT [NCIT:C142084]
synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical, OMIM:187900]
synonym: "bleeding disorder, platelet-type, 17; BDPLT17" RELATED [OMIM:187900]
synonym: "GFI1B inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [DOID:0111049]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B" EXACT [MONDO:design_pattern]
synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900]
xref: DOID:0111049 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="DOID:0111049"}
xref: MESH:C566060 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142084 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:187900 {source="MONDO:equivalentTo", source="DOID:0111049"}
is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:187900", source="indirect"} ! inherited bleeding disorder, platelet-type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861194
property_value: exactMatch DOID:0111049
property_value: exactMatch http://identifiers.org/mesh/C566060
property_value: exactMatch http://identifiers.org/omim/187900
property_value: exactMatch NCIT:C142084

[Term]
id: MONDO:0008554
name: thrombocythemia 1
synonym: "THCYT1" RELATED [MONDO:Lexical, OMIM:187950]
synonym: "thrombocythemia 1" EXACT [MONDO:Lexical, OMIM:187950]
synonym: "thrombocythemia 1; THCYT1" RELATED [OMIM:187950]
synonym: "thrombocythemia type 1" EXACT [MONDORULE:1, OMIM:187950]
synonym: "thrombocytosis 1" RELATED [OMIM:187950]
xref: OMIM:187950 {source="MONDO:equivalentTo"}
xref: UMLS:C3277671 {source="MONDO:equivalentTo", source="OMIM:187950"}
is_a: MONDO:0002249 {source="DC-OMIM:187950"} ! thrombocytosis disease
is_a: MONDO:0005029 ! essential thrombocythemia
property_value: exactMatch http://identifiers.org/omim/187950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3277671

[Term]
id: MONDO:0008555
name: thrombocytopenia 2
def: "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." [NCIT:C129035]
subset: gard_rare {source="GARD:0005191"}
synonym: "THC2" RELATED [MONDO:Lexical, OMIM:188000]
synonym: "thrombocytopenia 2" EXACT [MONDO:Lexical, OMIM:188000]
synonym: "thrombocytopenia 2; THC2" RELATED [OMIM:188000]
synonym: "thrombocytopenia autosomal dominant 2" RELATED [GARD:0005191]
synonym: "thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:188000]
synonym: "thrombocytopenia, autosomal dominant, 2" RELATED [OMIM:188000]
xref: GARD:0005191 {source="MONDO:equivalentTo"}
xref: MESH:C536519 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129035 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:188000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861185
property_value: exactMatch http://identifiers.org/mesh/C536519
property_value: exactMatch http://identifiers.org/omim/188000
property_value: exactMatch NCIT:C129035
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2 xsd:anyURI {source="GARD:0005191"}

[Term]
id: MONDO:0008556
name: thrombocytopenia, cyclic
subset: gard_rare {source="GARD:0009862"}
synonym: "cyclic thrombocytopenia" RELATED [GARD:0009862]
synonym: "thrombocytopenia cyclic" RELATED [GARD:0009862]
synonym: "thrombocytopenia, cyclic" EXACT [OMIM:188020]
xref: GARD:0009862 {source="MONDO:equivalentTo"}
xref: ICD9:287.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536899 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188020 {source="MONDO:equivalentTo"}
xref: SCTID:48788004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C0272282 {source="NCBI:mim2gene_medline", source="OMIM:188020", source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="DC-OMIM:188020", source="MESH:C536899", source="linkedlifedata"} ! thrombocytopenia
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536899
property_value: exactMatch http://identifiers.org/omim/188020
property_value: exactMatch http://identifiers.org/snomedct/48788004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272282
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia xsd:anyURI {source="GARD:0009862"}

[Term]
id: MONDO:0008557
name: Paris-Trousseau thrombocytopenia
def: "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." [Orphanet:851]
subset: gard_rare {source="GARD:0004224"}
subset: ordo_disease {source="Orphanet:851"}
synonym: "chromosome 11q23 deletion syndrome" RELATED [OMIM:188025]
synonym: "Paris-Trousseau syndrome" RELATED [GARD:0004224]
synonym: "TCPT" RELATED [MONDO:Lexical, OMIM:188025]
synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224]
synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025]
synonym: "thrombocytopenia, Paris-TROUSSEAU type; TCPT" RELATED [OMIM:188025]
xref: GARD:0004224 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="Orphanet:851", source="ORDO:851/attributed", source="ORDO:851/ntbt"}
xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="ORDO:851/e"}
xref: Orphanet:851 {source="MONDO:equivalentTo", source="OMIM:188025"}
xref: UMLS:C1861178 {source="Orphanet:851", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:188025", source="ORDO:851/e"}
xref: UMLS:C1956093 {source="Orphanet:851", source="MONDO:equivalentTo", source="ORDO:851/e"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0016910 {source="Orphanet:851"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0020117 {source="Orphanet:851"} ! alpha granule disease
property_value: exactMatch http://identifiers.org/mesh/C538617
property_value: exactMatch http://identifiers.org/omim/188025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861178
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956093
property_value: exactMatch Orphanet:851
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia xsd:anyURI {source="GARD:0004224"}

[Term]
id: MONDO:0008558
name: autoimmune thrombocytopenic purpura
def: "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." [NCIT:P378]
subset: ordo_disease {source="Orphanet:3002"}
synonym: "AITP" RELATED [MONDO:Lexical, OMIM:188030]
synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924]
synonym: "Ideopath thrombocytopenic pur" RELATED [DOID:8924]
synonym: "idiopathic purpura" RELATED [DOID:8924]
synonym: "idiopathic thrombocytopenia" EXACT [NCIT:C3446]
synonym: "idiopathic thrombocytopenia purpura" EXACT [NCIT:C3446]
synonym: "idiopathic thrombocytopenic purpura" EXACT [DOID:8924, OMIM:188030]
synonym: "immune thrombocytopenia" EXACT [Orphanet:3002]
synonym: "immune thrombocytopenic purpura" RELATED [OMIM:188030]
synonym: "ITP" EXACT [Orphanet:3002]
synonym: "primary thrombocytopenic purpura" EXACT [DOID:8924]
synonym: "thrombocytopenic purpura autoimmune" RELATED [GARD:0005194]
synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:188030, Orphanet:3002]
synonym: "thrombocytopenic purpura, autoimmune; AITP" RELATED [OMIM:188030]
synonym: "werlhof's disease" RELATED [DOID:8924]
xref: COHD:4120621 {source="MONDO:equivalentTo"}
xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"}
xref: EFO:0007160 {source="MONDO:equivalentTo"}
xref: GARD:0005194 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.3 {source="Orphanet:3002", source="DOID:8924", source="ORDO:3002/ntbt"}
xref: ICD9:287.31 {source="DOID:8924"}
xref: MedDRA:10021245 {source="Orphanet:3002", source="ORDO:3002/e"}
xref: NCIT:C3446 {source="MONDO:kboom-pr-0.94/0.83/1.04", source="MONDO:equivalentTo", source="DOID:8924"}
xref: OMIM:188030 {source="Orphanet:3002", source="ORDO:3002/e", source="MONDO:equivalentTo", source="DOID:8924"}
xref: Orphanet:3002 {source="OMIM:188030", source="MONDO:equivalentTo"}
is_a: MONDO:0004680 {source="DOID:8924"} ! primary thrombocytopenia
is_a: MONDO:0019098 {source="MONDO:Redundant", source="Orphanet:3002"} ! autoimmune thrombocytopenia
is_a: MONDO:0043768 {source="MONDOLEX:0008558", source="NCIT:C3446"} ! thrombocytopenic purpura
property_value: closeMatch http://identifiers.org/snomedct/13172003
property_value: closeMatch http://identifiers.org/snomedct/154825008
property_value: closeMatch http://identifiers.org/snomedct/191315003
property_value: closeMatch http://identifiers.org/snomedct/191316002
property_value: closeMatch http://identifiers.org/snomedct/234490009
property_value: closeMatch http://identifiers.org/snomedct/267567001
property_value: closeMatch http://identifiers.org/snomedct/32273002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0920163
property_value: exactMatch DOID:8924
property_value: exactMatch http://identifiers.org/meddra/10021245
property_value: exactMatch http://identifiers.org/mesh/D016553
property_value: exactMatch http://identifiers.org/omim/188030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398650
property_value: exactMatch NCIT:C3446
property_value: exactMatch Orphanet:3002

[Term]
id: MONDO:0008559
name: thrombophilia due to thrombin defect
def: "The formation of a blood clot (thrombus) in the lumen of a vein." [NCIT:C99107]
synonym: "factor II-related thrombophilia" RELATED [GARD:0010815]
synonym: "hyperprothrombinemia" RELATED [GARD:0010815]
synonym: "prothrombin 20210G>A thrombophilia" RELATED [GARD:0010815]
synonym: "prothrombin G20210A thrombophilia" RELATED [GARD:0010815]
synonym: "prothrombin thrombophilia" RELATED [GARD:0010815]
synonym: "prothrombin-related thrombophilia" RELATED [GARD:0010815]
synonym: "THPH1" RELATED [MONDO:Lexical, OMIM:188050]
synonym: "thrombophilia due to Factor 2 defect" RELATED [OMIM:188050]
synonym: "thrombophilia due to thrombin defect" EXACT [MONDO:Lexical, OMIM:188050]
synonym: "thrombophilia due to thrombin defect; THPH1" RELATED [OMIM:188050]
synonym: "thrombosis, protection against" RELATED [OMIM:188050]
synonym: "Venous thromboembolism" BROAD [OMIM:188050]
synonym: "venous thrombosis" RELATED [OMIM:188050]
xref: COHD:444247 {source="MONDO:equivalentTo"}
xref: GARD:0010815 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:453.9 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:188050 {source="MONDO:equivalentTo"}
xref: SCTID:111293003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/5.56"}
is_a: MONDO:0002305 {source="DC-OMIM:188050", source="OMIM:188050"} ! thrombophilia
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160733
property_value: exactMatch http://identifiers.org/omim/188050
property_value: exactMatch http://identifiers.org/snomedct/111293003

[Term]
id: MONDO:0008560
name: thrombophilia due to activated protein C resistance
def: "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." [MESH:D020016]
synonym: "Activated Protein C resistance" RELATED [OMIM:188055]
synonym: "APC resistance" RELATED [MESH:D020016, OMIM:188055]
synonym: "Pccf deficiency" RELATED [OMIM:188055]
synonym: "Proc cofactor deficiency" RELATED [OMIM:188055]
synonym: "resistance, APC" RELATED [MESH:D020016]
synonym: "THPH2" RELATED [MONDO:Lexical, OMIM:188055]
synonym: "thrombophilia 5" RELATED [OMIM:188055]
synonym: "thrombophilia due to activated protein C resistance" EXACT [MONDO:Lexical, OMIM:188055]
synonym: "thrombophilia due to ACTIVATED PROTEIN C resistance; THPH2" RELATED [OMIM:188055]
synonym: "thrombophilia due to deficiency of Activated Protein C cofactor" RELATED [OMIM:188055]
synonym: "thrombophilia due to Factor 5 Leiden" RELATED [OMIM:188055]
xref: ICD9:289.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020016 {source="MONDO:equivalentTo"}
xref: OMIM:188055 {source="MONDO:equivalentTo"}
xref: SCTID:421527008 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
xref: UMLS:C1861171 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:188055"}
is_a: MONDO:0002242 {source="MESH:D020016"} ! coagulation protein disease
is_a: MONDO:0002305 {source="DC-OMIM:188055", source="MESH:D020016", source="OMIM:188055", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombophilia
is_a: MONDO:0021181 {source="MESH:D020016", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/D020016
property_value: exactMatch http://identifiers.org/omim/188055
property_value: exactMatch http://identifiers.org/snomedct/421527008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861171

[Term]
id: MONDO:0008561
name: thumb deformity (disease)
synonym: "thumb absent or hypoplastic" RELATED [GARD:0008482]
synonym: "thumb deformity" EXACT [MONDO:ambiguous, OMIM:188100]
synonym: "thumb hypoplastic" RELATED [GARD:0008482]
xref: GARD:0008482 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0001172 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C536903 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0575897
property_value: exactMatch http://identifiers.org/mesh/C536903
property_value: exactMatch http://identifiers.org/omim/188100

[Term]
id: MONDO:0008562
name: thumb deformity-alopecia-pigmentation anomaly syndrome
def: "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." [Orphanet:2251]
subset: ordo_malformation_syndrome {source="Orphanet:2251"}
synonym: "congenital deformity of the thumb and congenital alopecia" RELATED [GARD:0005199]
synonym: "hypotrichosis associated with congenital hypoplasia of the thumb" RELATED [GARD:0005199]
synonym: "sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation" RELATED [GARD:0005199]
synonym: "thumb deformity and alopecia" RELATED [OMIM:188150]
synonym: "thumb deformity, alopecia, pigmentation anomaly" RELATED [GARD:0005199]
xref: GARD:0005199 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566054 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188150 {source="MONDO:equivalentTo", source="ORDO:2251/e", source="Orphanet:2251"}
xref: Orphanet:2251 {source="OMIM:188150", source="MONDO:equivalentTo"}
xref: UMLS:C2931366 {source="MONDO:equivalentTo", source="ORDO:2251/e", source="Orphanet:2251"}
is_a: MONDO:0015226 {source="Orphanet:2251"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861168
property_value: exactMatch http://identifiers.org/mesh/C536904
property_value: exactMatch http://identifiers.org/mesh/C566054
property_value: exactMatch http://identifiers.org/omim/188150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931366
property_value: exactMatch Orphanet:2251

[Term]
id: MONDO:0008563
name: thumb stiffness-brachydactyly-intellectual disability syndrome
def: "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." [Orphanet:1078]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1078"}
synonym: "Piussan-Lenaerts-Mathieu syndrome" EXACT [Orphanet:1078]
synonym: "Thumb ankylosis with mental retardation" RELATED [GARD:0004375]
synonym: "thumb stiff brachydactyly mental retardation" RELATED [GARD:0005200]
synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201]
xref: GARD:0004375 {source="MONDO:equivalentTo"}
xref: GARD:0005200 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1078", source="ORDO:1078/attributed", source="ORDO:1078/ntbt"}
xref: OMIM:188201 {source="ORDO:1078/e", source="Orphanet:1078", source="MONDO:equivalentTo"}
xref: Orphanet:1078 {source="MONDO:equivalentTo", source="OMIM:188201"}
is_a: MONDO:0019066 {source="Orphanet:1078", source="Orphanet:1078/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861166
property_value: exactMatch http://identifiers.org/mesh/C537511
property_value: exactMatch http://identifiers.org/omim/188201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931515
property_value: exactMatch Orphanet:1078

[Term]
id: MONDO:0008564
name: DiGeorge syndrome
def: "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." [NCIT:P378]
synonym: "22q deletion syndrome(s)" EXACT [NCIT:C2989]
synonym: "22q11.2 Deletion syndrome" EXACT [NCIT:C2989]
synonym: "Catch22" RELATED [OMIM:188400]
synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:188400]
synonym: "DGS" EXACT [MONDO:Lexical, OMIM:188400]
synonym: "DGS1" EXACT [NCIT:C2989]
synonym: "Di-George syndrome" EXACT [GTR:AN1145678]
synonym: "DiGeorge anomaly" EXACT [NCIT:C2989]
synonym: "DiGeorge sequence" EXACT EXCLUDE [DOID:11198]
synonym: "DiGeorge syndrome" EXACT [MONDO:Lexical, OMIM:188400]
synonym: "DiGeorge syndrome chromosome region" RELATED [OMIM:188400]
synonym: "DiGeorge syndrome type 1" EXACT [NCIT:C2989]
synonym: "DiGeorge syndrome; DGS" EXACT [OMIM:188400]
synonym: "DiGeorge's syndrome" EXACT [DOID:11198, NCIT:C2989]
synonym: "hypoplasia of thymus and parathyroids" RELATED [OMIM:188400]
synonym: "pharyngeal pouch syndrome" EXACT [DOID:11198, MTHICD9_2006:279.11]
synonym: "Shprintzen syndrome" EXACT [NCIT:C2989]
synonym: "Sphrintzen" EXACT [NCIT:C2989]
synonym: "Takao VCF syndrome" RELATED [OMIM:188400]
synonym: "third and fourth pharyngeal pouch syndrome" RELATED [OMIM:188400]
synonym: "VCF" RELATED [NCIT:C2989]
synonym: "velo-cardio-facial syndrome" RELATED [NCIT:C2989]
synonym: "velocardiofacial syndrome" RELATED [NCIT:C2989]
xref: DOID:11198 {source="MONDO:equivalentTo"}
xref: GTR:AN1145678 {source="UMLS:CN734570"}
xref: ICD10:D82.1 {source="DOID:11198"}
xref: ICD9:279.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:11198"}
xref: MESH:D004062 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: NCIT:C2989 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08", source="DOID:11198"}
xref: OMIM:188400 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: SCTID:77128003 {source="MONDO:equivalentTo", source="DOID:11198", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:CN734570 {source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DOID:11198"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0001222 {source="NCIT:C2989"} ! congenital T-cell immunodeficiency
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0018923 {source="ORDO:567/btnt"} ! 22q11.2 deletion syndrome
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
property_value: closeMatch http://identifiers.org/snomedct/190991007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414025
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861129
property_value: exactMatch DOID:11198
property_value: exactMatch http://identifiers.org/mesh/D004062
property_value: exactMatch http://identifiers.org/omim/188400
property_value: exactMatch http://identifiers.org/snomedct/77128003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN734570
property_value: exactMatch NCIT:C2989

[Term]
id: MONDO:0008565
name: familial thyroglossal duct cyst
def: "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." [Orphanet:93953]
subset: gard_rare {source="GARD:0005204"}
subset: ordo_morphological_anomaly {source="Orphanet:93953"}
synonym: "hereditary thyroglossal duct cyst" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thyroglossal duct cysts" RELATED [GARD:0005204]
synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455]
synonym: "thyroglossal duct cysts" RELATED [GARD:0005204]
synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204]
xref: GARD:0005204 {source="MONDO:equivalentTo"}
xref: ICD10:Q89.2 {source="ORDO:93953/ntbt", source="Orphanet:93953"}
xref: MESH:C536909 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188455 {source="MONDO:equivalentTo", source="ORDO:93953/e", source="Orphanet:93953"}
xref: Orphanet:93953 {source="MONDO:equivalentTo", source="OMIM:188455"}
xref: SCTID:717331000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3495590 {source="MONDO:equivalentTo", source="Orphanet:93953", source="OMIM:188455"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0006460 {source="MESH:C536909", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! thyroglossal duct cyst
is_a: MONDO:0015074 ! thyroid tumor
is_a: MONDO:0015476 {source="Orphanet:93953"} ! cysts and fistulae of the face and oral cavity
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019859 {source="Orphanet:93953"} ! congenital thyroid malformation without hypothyroidism
intersection_of: MONDO:0006460 ! thyroglossal duct cyst
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861114
property_value: exactMatch http://identifiers.org/mesh/C536909
property_value: exactMatch http://identifiers.org/omim/188455
property_value: exactMatch http://identifiers.org/snomedct/717331000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495590
property_value: exactMatch Orphanet:93953
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst xsd:anyURI {source="GARD:0005204"}

[Term]
id: MONDO:0008566
name: thyroid cancer, nonmedullary, 2
synonym: "FTC" RELATED [GARD:0005206]
synonym: "NMTC2" RELATED [MONDO:Lexical, OMIM:188470]
synonym: "thyroid cancer, follicular" RELATED [GARD:0005206]
synonym: "thyroid cancer, nonmedullary, 2" EXACT [MONDO:Lexical, OMIM:188470]
synonym: "thyroid cancer, nonmedullary, 2; NMTC2" RELATED [OMIM:188470]
synonym: "thyroid cancer, nonmedullary, type 2" EXACT [MONDORULE:1, OMIM:188470]
synonym: "thyroid carcinoma, follicular" RELATED [GARD:0005206]
xref: GARD:0005206 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C572845 {source="MONDO:equivalentTo"}
xref: OMIM:188470 {source="MONDO:equivalentTo"}
is_a: MONDO:0005034 {source="MESH:C572845"} ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206682
property_value: exactMatch http://identifiers.org/mesh/C572845
property_value: exactMatch http://identifiers.org/omim/188470

[Term]
id: MONDO:0008567
name: thyroid cancer, nonmedullary, 1
synonym: "familial nonmedullary thyroid cancer, papillary" RELATED [OMIM:188550]
synonym: "NMTC1" RELATED [MONDO:Lexical, OMIM:188550]
synonym: "nonmedullary thyroid carcinoma, papillary" RELATED [OMIM:188550]
synonym: "papillary carcinoma of thyroid" RELATED [OMIM:188550]
synonym: "thyroid cancer, nonmedullary, 1" EXACT [MONDO:Lexical, OMIM:188550]
synonym: "thyroid cancer, nonmedullary, 1; NMTC1" RELATED [OMIM:188550]
synonym: "thyroid cancer, nonmedullary, type 1" EXACT [MONDORULE:1, OMIM:188550]
xref: OMIM:188550 {source="MONDO:equivalentTo"}
is_a: MONDO:0005075 ! thyroid gland papillary carcinoma
is_a: MONDO:0017896 {source="DC-OMIM:188550", source="MONDOLEX:0008567", source="OMIM:188550"} ! familial nonmedullary thyroid carcinoma
property_value: exactMatch http://identifiers.org/omim/188550

[Term]
id: MONDO:0008568
name: thyroid hormone plasma membrane transport defect
subset: gard_rare {source="GARD:0008499"}
synonym: "defect" RELATED [OMIM:188560]
synonym: "hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport" RELATED [OMIM:188560]
synonym: "thyroid hormone plasma membrane transport defect" EXACT [OMIM:188560]
synonym: "thyroid hormone resistance due to T4 plasma Membrane Transport defect" RELATED [OMIM:188560]
xref: GARD:0008499 {source="MONDO:equivalentTo"}
xref: MESH:C536916 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188560 {source="MONDO:equivalentTo"}
xref: UMLS:C1861101 {source="OMIM:188560", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0044975 ! disease of transporter activity
property_value: exactMatch http://identifiers.org/mesh/C536916
property_value: exactMatch http://identifiers.org/omim/188560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect xsd:anyURI {source="GARD:0008499"}

[Term]
id: MONDO:0008569
name: thyroid hormone resistance, generalized, autosomal dominant
synonym: "GRTH" RELATED [MONDO:Lexical, OMIM:188570]
synonym: "Gthr" RELATED [OMIM:188570]
synonym: "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones" RELATED [OMIM:188570]
synonym: "thyroid hormone resistance, generalized, autosomal dominant" EXACT [MONDO:Lexical, OMIM:188570]
synonym: "thyroid hormone resistance, generalized, autosomal dominant; GRTH" RELATED [OMIM:188570]
synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:188570]
xref: MESH:C567934 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188570 {source="MONDO:equivalentTo"}
xref: UMLS:C2937288 {source="NCBI:mim2gene_medline", source="OMIM:188570", source="MONDO:equivalentTo"}
is_a: MONDO:0009043 {source="ORDO:3221/btnt"} ! generalized resistance to thyroid hormone
is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
property_value: exactMatch http://identifiers.org/mesh/C567934
property_value: exactMatch http://identifiers.org/omim/188570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2937288

[Term]
id: MONDO:0008570
name: thyrotoxic periodic paralysis, susceptibility to, 1
def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1" RELATED [OMIM:188580]
synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580]
synonym: "TTPP1" RELATED [MONDO:Lexical, OMIM:188580]
xref: OMIM:188580 {source="MONDO:equivalentTo"}
is_a: MONDO:0019201 {source="DC-OMIM:188580", source="MONDO:Redundant", source="OMIM:188580"} ! thyrotoxic periodic paralysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749982
property_value: exactMatch http://identifiers.org/omim/188580

[Term]
id: MONDO:0008571
name: Blount disease, infantile
synonym: "Blount disease, infantile" EXACT [OMIM:188700]
synonym: "Osteochondrosis deformans tibiae, infantile" RELATED [OMIM:188700]
synonym: "tibia vara, infantile" RELATED [OMIM:188700]
xref: OMIM:188700 {source="MONDO:equivalentTo"}
xref: UMLS:C3150037 {source="MONDO:equivalentTo", source="OMIM:188700"}
is_a: MONDO:0017194 {source="ORDO:2768/btnt"} ! Blount disease
property_value: exactMatch http://identifiers.org/omim/188700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150037

[Term]
id: MONDO:0008572
name: tibia, hypoplasia or aplasia of, with polydactyly
synonym: "THYP" RELATED [MONDO:Lexical, OMIM:188740]
synonym: "tibia, hypoplasia or aplasia of, with polydactyly" EXACT [MONDO:Lexical, OMIM:188740]
synonym: "tibia, hypoplasia or aplasia of, with polydactyly; THYP" RELATED [OMIM:188740]
synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" RELATED [OMIM:188740]
xref: MESH:C566046 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188740 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566046
property_value: exactMatch http://identifiers.org/omim/188740

[Term]
id: MONDO:0008573
name: tibial torsion, bilateral medial
synonym: "tibial torsion, bilateral medial" EXACT [OMIM:188800]
xref: MESH:C566045 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:188800 {source="MONDO:equivalentTo"}
xref: UMLS:C1861097 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:188800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566045
property_value: exactMatch http://identifiers.org/omim/188800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861097

[Term]
id: MONDO:0008574
name: obsolete Tl antigen
synonym: "histocompatibility 2, T-region locus 18" RELATED [OMIM:188850]
synonym: "Thymus leukemia antigen" RELATED [OMIM:188850]
synonym: "Tl antigen" EXACT [OMIM:188850]
xref: OMIM:188850 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861064
property_value: exactMatch http://identifiers.org/omim/188850
is_obsolete: true

[Term]
id: MONDO:0008575
name: nicotine dependence
def: "Physical and psychological dependence on nicotine." [NCIT:P378]
synonym: "cigarette habituation, susceptibility to" RELATED [OMIM:188890]
synonym: "nicotine addiction" EXACT [NCIT:C54203]
synonym: "nicotine addiction, susceptibility to" RELATED [OMIM:188890]
synonym: "nicotine dependence, susceptibility to" RELATED [OMIM:188890]
synonym: "smoking habit, susceptibility to" RELATED [OMIM:188890]
synonym: "susceptibility to tobacco addiction" RELATED [OMIM:188890]
synonym: "tobacco addiction, susceptibility to" RELATED [OMIM:188890]
synonym: "tobacco use disorder" EXACT [DOID:0050742, NSH:D014029]
xref: DOID:0050742 {source="MONDO:equivalentTo", source="EFO:0003768"}
xref: EFO:0003768 {source="DOID:0050742", source="MONDO:equivalentTo"}
xref: ICD10:F17 {source="DOID:0050742", source="MONDO:equivalentTo"}
xref: ICD10:F17.2 {source="DOID:0050742"}
xref: ICD10:F17.20 {source="DOID:0050742"}
xref: ICD9:305.1 {source="EFO:0003768"}
xref: MESH:D014029 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768", source="MONDO:ontobio"}
xref: NCIT:C54203 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:188890 {source="DOID:0050742", source="MONDO:equivalentTo"}
xref: SCTID:56294008 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0020573 {source="OMIM:188890"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008575 ! nicotine dependence
property_value: closeMatch http://identifiers.org/mesh/D012907
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028043
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861063
property_value: exactMatch DOID:0050742
property_value: exactMatch http://identifiers.org/mesh/D014029
property_value: exactMatch http://identifiers.org/omim/188890
property_value: exactMatch http://identifiers.org/snomedct/56294008
property_value: exactMatch NCIT:C54203

[Term]
id: MONDO:0008576
name: toe, fifth, number of phalanges 1N
synonym: "toe, fifth, number of phalanges IN" RELATED [OMIM:189000]
synonym: "toe, fifth, number of phalanges type 1N" EXACT [MONDORULE:4, OMIM:189000]
xref: OMIM:189000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861062
property_value: exactMatch http://identifiers.org/omim/189000

[Term]
id: MONDO:0008577
name: toe, misshapen
synonym: "toe, misshapen" EXACT [OMIM:189100]
xref: OMIM:189100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861061
property_value: exactMatch http://identifiers.org/omim/189100

[Term]
id: MONDO:0008578
name: toe, rotated fifth
synonym: "toe, rotated fifth" EXACT [OMIM:189150]
xref: OMIM:189150 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861060
property_value: exactMatch http://identifiers.org/omim/189150

[Term]
id: MONDO:0008579
name: toes, relative length of first and second
synonym: "toes, relative length of first and second" EXACT [OMIM:189200]
xref: OMIM:189200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861059
property_value: exactMatch http://identifiers.org/omim/189200

[Term]
id: MONDO:0008580
name: toes, space between first and second
synonym: "toes, space between first and second" EXACT [OMIM:189230]
xref: OMIM:189230 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861058
property_value: exactMatch http://identifiers.org/omim/189230

[Term]
id: MONDO:0008581
name: malposition of teeth with or without hypodontia/oligodontia
synonym: "ectopic eruption of teeth" RELATED [OMIM:189490]
synonym: "malposition of teeth with or without hypodontia/oligodontia" EXACT [OMIM:189490]
xref: OMIM:189490 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752157
property_value: exactMatch http://identifiers.org/omim/189490

[Term]
id: MONDO:0008582
name: tooth and nail syndrome
def: "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." [Orphanet:2228]
subset: ordo_malformation_syndrome {source="Orphanet:2228"}
synonym: "dysplasia of nails with hypodontia" RELATED [GARD:0005587]
synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [OMIM:189500]
synonym: "ectodermal dysplasia 3, Witkop type" RELATED [OMIM:189500]
synonym: "HND" EXACT [NCIT:C40553]
synonym: "hypodontia - dysplasia of nails" RELATED [GARD:0005587]
synonym: "hypodontia and nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypodontia with nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypodontia-dysplasia of nails syndrome" RELATED [Orphanet:2228]
synonym: "hypodontia-nail dysgenesis syndrome" EXACT [Orphanet:2228]
synonym: "hypodontia-nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [DOID:6678, MTH:NOCODE]
synonym: "nail dysplasia with hypodontia" RELATED [OMIM:189500]
synonym: "TNS" RELATED [GARD:0005587]
synonym: "tooth and nail syndrome" EXACT [DOID:6678, NCIT:C40553, Orphanet:2228]
synonym: "tooth-and-nail syndrome" RELATED [OMIM:189500]
synonym: "WITKOP syndrome" RELATED [OMIM:189500]
synonym: "Witkop syndrome" EXACT [Orphanet:2228]
synonym: "Witkop's syndrome" EXACT [DOID:6678]
xref: DOID:6678 {source="MONDO:equivalentTo"}
xref: GARD:0005587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="ORDO:2228/attributed", source="ORDO:2228/ntbt", source="Orphanet:2228"}
xref: MESH:C536736 {source="DOID:6678", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C40553 {source="DOID:6678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.86/2.73"}
xref: OMIM:189500 {source="DOID:6678", source="MONDO:equivalentTo", source="ORDO:2228/e", source="Orphanet:2228"}
xref: Orphanet:2228 {source="MONDO:equivalentTo", source="OMIM:189500"}
xref: SCTID:400036004 {source="DOID:6678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406735 {source="MEDGEN:kboom-pr98-c99", source="DOID:6678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2228", source="OMIM:189500", source="NCIT:C40553"}
is_a: MONDO:0015336 {source="Orphanet:2228"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MONDOLEX:0008582", source="OMIM:189500", source="Orphanet:2228", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://identifiers.org/snomedct/239039003
property_value: closeMatch http://identifiers.org/snomedct/68897000
property_value: exactMatch DOID:6678
property_value: exactMatch http://identifiers.org/mesh/C536736
property_value: exactMatch http://identifiers.org/omim/189500
property_value: exactMatch http://identifiers.org/snomedct/400036004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406735
property_value: exactMatch NCIT:C40553
property_value: exactMatch Orphanet:2228

[Term]
id: MONDO:0008583
name: inherited torticollis (disease)
def: "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." [NCIT:C4811]
subset: gard_rare
synonym: "congenital muscular torticollis" RELATED [GARD:0004908, MESH:C535425]
synonym: "congenital sternomastoid torticollis" RELATED []
synonym: "congenital torticollis" EXACT []
synonym: "congenital wry neck" RELATED []
synonym: "congenital wryneck" RELATED []
synonym: "contracture of sternocleidomastoid muscle" RELATED []
synonym: "familial spasmodic torticollis" RELATED [MESH:C535425]
synonym: "familial torticollis" RELATED [MESH:C535425]
synonym: "fibromatosis colli" EXACT [NCIT:C4811]
synonym: "torticollis" EXACT [MONDO:ambiguous, OMIM:189600]
synonym: "torticollis, congenital" RELATED [GARD:0004908, MESH:C535425]
synonym: "torticollis, familial" RELATED [MESH:C535425]
xref: COHD:440814 {source="MONDO:equivalentTo"}
xref: GARD:0004908 {source="MONDO:equivalentTo"}
xref: HP:0000473 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:723.5 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C535425 {source="MONDO:equivalentTo"}
xref: NCIT:C4811 {source="MONDO:equivalentTo"}
xref: OMIM:189600 {source="MONDO:equivalentTo", source="GARD:0004908"}
xref: SCTID:268240006 {source="MONDO:equivalentTo"}
xref: SCTID:70070008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.07"}
is_a: MONDO:0005031 {source="NCIT:C4811"} ! fibromatosis
is_a: MONDO:0017127 ! inherited soft tissue tumor
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040485
property_value: exactMatch http://identifiers.org/mesh/C535425
property_value: exactMatch http://identifiers.org/omim/189600
property_value: exactMatch http://identifiers.org/snomedct/268240006
property_value: exactMatch http://identifiers.org/snomedct/70070008
property_value: exactMatch NCIT:C4811
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis xsd:anyURI {source="GARD:0004908"}

[Term]
id: MONDO:0008584
name: torus palatinus and torus mandibularis
synonym: "torus palatinus and torus mandibularis" EXACT [OMIM:189700]
xref: MESH:C566043 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:189700 {source="MONDO:equivalentTo"}
xref: UMLS:C1861044 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:189700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566043
property_value: exactMatch http://identifiers.org/omim/189700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861044

[Term]
id: MONDO:0008585
name: HELLP syndrome
def: "HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia . If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems." [https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome]
subset: gard_rare {source="GARD:0008528"}
subset: ordo_disease {source="Orphanet:244242"}
synonym: "hemolysis, elevated liver enzymes, and Low Platelet count" RELATED [OMIM:189800]
synonym: "hemolysis, elevated liver enzymes, low platelets in pregnancy" EXACT [Orphanet:244242]
synonym: "hemolysis, elevated liver enzymes, lowered platelets" RELATED [GARD:0008528]
synonym: "hemolysis-elevated liver enzymes-Low Platelet count syndrome" EXACT [NCIT:C84750]
synonym: "hemolysis-elevated liver enzymes-low platelets syndrome" EXACT [Orphanet:244242]
synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800]
synonym: "pee" RELATED [OMIM:189800]
synonym: "PEE1" RELATED [MONDO:Lexical, OMIM:189800]
synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical, OMIM:189800]
synonym: "PREECLAMPSIA/eclampsia 1; PEE1" RELATED [OMIM:189800]
synonym: "Preg1" RELATED [OMIM:189800]
synonym: "toxemia of pregnancy" RELATED [OMIM:189800]
xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"}
xref: EFO:0007297 {source="MONDO:equivalentTo"}
xref: GARD:0008528 {source="MONDO:equivalentTo"}
xref: ICD10:O14.2 {source="Orphanet:244242", source="DOID:13133", source="ORDO:244242/e"}
xref: MedDRA:10049058 {source="Orphanet:244242", source="ORDO:244242/e"}
xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="DOID:13133", source="EFO:0007297", source="ORDO:244242/e"}
xref: NCIT:C84750 {source="MONDO:equivalentTo", source="DOID:13133", source="MONDO:kboom-pr-0.90/0.79/0.09"}
xref: OMIM:189800 {source="MONDO:equivalentTo"}
xref: Orphanet:244242 {source="MONDO:equivalentTo"}
xref: UMLS:C0162739 {source="Orphanet:244242", source="MONDO:equivalentTo", source="DOID:13133", source="OMIM:189800", source="NCIT:C84750", source="ORDO:244242/e"}
is_a: MONDO:0001641 {source="DOID:13133"} ! severe pre-eclampsia
is_a: MONDO:0002254 {source="MONDOLEX:0008585", source="NCIT:C84750"} ! syndromic disease
is_a: MONDO:0016631 {source="Orphanet:244242"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: closeMatch http://identifiers.org/snomedct/199010001
property_value: closeMatch http://identifiers.org/snomedct/95605009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340274
property_value: exactMatch DOID:13133
property_value: exactMatch http://identifiers.org/meddra/10049058
property_value: exactMatch http://identifiers.org/mesh/D017359
property_value: exactMatch http://identifiers.org/omim/189800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162739
property_value: exactMatch NCIT:C84750
property_value: exactMatch Orphanet:244242
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome xsd:anyURI {source="GARD:0008528"}

[Term]
id: MONDO:0008586
name: esophageal atresia/tracheoesophageal fistula
def: "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea." [Orphanet:1199]
subset: ordo_morphological_anomaly {source="Orphanet:1199"}
synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [DOID:0080171]
synonym: "esophageal atresia with or without tracheoesophageal fistula" RELATED [OMIM:189960]
synonym: "te fistula" RELATED [GARD:0007792]
synonym: "TEF" RELATED [GARD:0007792]
synonym: "tracheoesophageal fistula" RELATED [GARD:0007792]
synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [DOID:0080171]
synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [OMIM:189960]
xref: DOID:0080171 {source="MONDO:equivalentTo"}
xref: GARD:0007792 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q39.0 {source="ORDO:1199/e", source="Orphanet:1199"}
xref: ICD10:Q39.1 {source="ORDO:1199/e", source="Orphanet:1199"}
xref: MedDRA:10021530 {source="ORDO:1199/e", source="Orphanet:1199"}
xref: MedDRA:10030146 {source="ORDO:1199/e", source="Orphanet:1199"}
xref: MESH:C531835 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:189960 {source="ORDO:1199/e", source="Orphanet:1199", source="MONDO:equivalentTo", source="DOID:0080171"}
xref: Orphanet:1199 {source="MONDO:equivalentTo", source="OMIM:189960"}
xref: SCTID:95435007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015207 {source="Orphanet:1199"} ! non-syndromic esophageal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861028
property_value: exactMatch DOID:0080171
property_value: exactMatch http://identifiers.org/meddra/10021530
property_value: exactMatch http://identifiers.org/meddra/10030146
property_value: exactMatch http://identifiers.org/mesh/C531835
property_value: exactMatch http://identifiers.org/mesh/D004933
property_value: exactMatch http://identifiers.org/omim/189960
property_value: exactMatch http://identifiers.org/snomedct/95435007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014850
property_value: exactMatch Orphanet:1199

[Term]
id: MONDO:0008587
name: tracheobronchopathia osteochondroplastica
def: "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." [Orphanet:3348]
subset: ordo_disease {source="Orphanet:3348"}
synonym: "cartilaginous or bony projections into the tracheobronchial lumen" RELATED [GARD:0005235]
synonym: "tracheobronchopathia osteochondroplastica" EXACT [OMIM:189961]
synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235]
synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348]
xref: GARD:0005235 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:J98.0 {source="ORDO:3348/ntbt", source="Orphanet:3348"}
xref: MESH:C536977 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:189961 {source="ORDO:3348/e", source="MONDO:equivalentTo", source="Orphanet:3348"}
xref: Orphanet:3348 {source="MONDO:equivalentTo", source="OMIM:189961"}
xref: SCTID:54675009 {source="MONDO:equivalentTo"}
xref: UMLS:CN204359 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:3348"} ! respiratory system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520538
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887588
property_value: exactMatch http://identifiers.org/mesh/C536977
property_value: exactMatch http://identifiers.org/omim/189961
property_value: exactMatch http://identifiers.org/snomedct/54675009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204359
property_value: exactMatch Orphanet:3348

[Term]
id: MONDO:0008588
name: hereditary geniospasm
def: "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." [Orphanet:53372]
subset: gard_rare {source="GARD:0009501"}
subset: ordo_disease {source="Orphanet:53372"}
synonym: "familial trembling of the chin" EXACT [Orphanet:53372]
synonym: "geniospasm" RELATED [GARD:0009501]
synonym: "geniospasm 1" RELATED [MONDO:Lexical, OMIM:190100]
synonym: "geniospasm 1; GSM1" RELATED [OMIM:190100]
synonym: "GSM 1" RELATED [GARD:0009501]
synonym: "GSM1" RELATED [MONDO:Lexical, OMIM:190100]
synonym: "hereditary chin myoclonus" EXACT [Orphanet:53372]
synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501]
synonym: "hereditary chin-trembling" EXACT [Orphanet:53372]
synonym: "trembling Chin" RELATED [OMIM:190100]
xref: GARD:0009501 {source="MONDO:equivalentTo"}
xref: ICD10:G25.3 {source="ORDO:53372/attributed", source="ORDO:53372/ntbt", source="Orphanet:53372"}
xref: MESH:C537682 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="MONDO:ontobio", source="Orphanet:53372"}
xref: OMIM:190100 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="Orphanet:53372"}
xref: Orphanet:53372 {source="OMIM:190100", source="MONDO:equivalentTo"}
xref: SCTID:718103001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2931589 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="Orphanet:53372"}
is_a: MONDO:0017663 {source="Orphanet:53372"} ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860972
property_value: exactMatch http://identifiers.org/mesh/C537682
property_value: exactMatch http://identifiers.org/omim/190100
property_value: exactMatch http://identifiers.org/snomedct/718103001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931589
property_value: exactMatch Orphanet:53372
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm xsd:anyURI {source="GARD:0009501"}

[Term]
id: MONDO:0008589
name: tremor of intention, ataxia, and lipofuscinosis
synonym: "tremor of intention, ataxia, and lipofuscinosis" EXACT [OMIM:190200]
xref: MESH:C566038 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190200 {source="MONDO:equivalentTo"}
xref: UMLS:C1860872 {source="OMIM:190200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566038/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566038
property_value: exactMatch http://identifiers.org/omim/190200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860872

[Term]
id: MONDO:0008590
name: tremor, hereditary essential, 1
def: "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DRD3 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in DRD3" EXACT [MONDO:design_pattern]
synonym: "ETM1" RELATED [MONDO:Lexical, OMIM:190300]
synonym: "FET1" RELATED [GARD:0005244]
synonym: "tremor familial essential, 1" RELATED [GARD:0005244]
synonym: "tremor hereditary essential, 1" RELATED [GARD:0005244]
synonym: "tremor, familial essential, 1" RELATED [OMIM:190300]
synonym: "tremor, hereditary essential, 1" EXACT [MONDO:Lexical, OMIM:190300]
synonym: "tremor, hereditary essential, 1; ETM1" RELATED [OMIM:190300]
synonym: "tremor, hereditary essential, type 1" EXACT [MONDORULE:1, OMIM:190300]
xref: GARD:0005244 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536545 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190300 {source="MONDO:equivalentTo"}
xref: UMLS:C1860861 {source="OMIM:190300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003233 {source="DC-OMIM:190300", source="MESH:C536545", source="MONDO:Redundant", source="OMIM:190300"} ! essential tremor
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch Orphanet:862
property_value: exactMatch http://identifiers.org/mesh/C536545
property_value: exactMatch http://identifiers.org/omim/190300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860861

[Term]
id: MONDO:0008591
name: tremor-nystagmus-duodenal ulcer syndrome
subset: gard_rare
subset: ordo_disease {source="Orphanet:3350"}
synonym: "Neuhauser Daly Magnelli syndrome" RELATED [GARD:0003948]
synonym: "Neuhauser-Daly-Magnelli syndrome" EXACT [Orphanet:3350]
synonym: "tremor nystagmus duodenal ulcer" RELATED [GARD:0003948]
synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [OMIM:190310]
xref: GARD:0003948 {source="MONDO:equivalentTo"}
xref: MESH:C536406 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190310 {source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350", source="ORDO:3350/e"}
xref: Orphanet:3350 {source="OMIM:190310", source="MONDO:equivalentTo"}
xref: UMLS:C1860860 {source="OMIM:190310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003948", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3350"}
is_a: MONDO:0005395 {source="Orphanet:3350"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0017644"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536406
property_value: exactMatch http://identifiers.org/omim/190310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860860
property_value: exactMatch Orphanet:3350

[Term]
id: MONDO:0008592
name: tricho-dento-osseous syndrome
def: "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." [Orphanet:3352]
subset: gard_rare {source="GARD:0007799"}
subset: ordo_malformation_syndrome {source="Orphanet:3352"}
synonym: "enamel hypoplasia and hypocalcification with associated strikingly curly hair" RELATED [GARD:0007799]
synonym: "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" RELATED [GARD:0005252]
synonym: "TDO" RELATED [MONDO:Lexical, OMIM:190320]
synonym: "TDO syndrome" EXACT [OMIM:190320, Orphanet:3352]
synonym: "TDO syndrome 1" RELATED [GARD:0005252]
synonym: "Tricho-dento-osseous syndrome 1" RELATED [GARD:0005252]
synonym: "TRICHODENTOOSSEOUS syndrome" RELATED [MONDO:Lexical, OMIM:190320]
synonym: "TRICHODENTOOSSEOUS syndrome; TDO" RELATED [OMIM:190320]
xref: GARD:0005252 {source="MONDO:equivalentTo"}
xref: GARD:0007799 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="ORDO:3352/attributed", source="ORDO:3352/ntbt", source="Orphanet:3352"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536549 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3352", source="ORDO:3352/e"}
xref: OMIM:190320 {source="MONDO:equivalentTo", source="GARD:0005252", source="Orphanet:3352", source="ORDO:3352/e"}
xref: Orphanet:3352 {source="OMIM:190320", source="MONDO:equivalentTo"}
xref: SCTID:38993008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015336 {source="Orphanet:3352"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019282 {source="Orphanet:3352"} ! syndromic hair shaft abnormality
is_a: MONDO:0019287 {source="Orphanet:3352", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019703 {source="Orphanet:3352"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931236
property_value: exactMatch http://identifiers.org/mesh/C536549
property_value: exactMatch http://identifiers.org/omim/190320
property_value: exactMatch http://identifiers.org/snomedct/38993008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265333
property_value: exactMatch Orphanet:3352
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome xsd:anyURI {source="GARD:0007799"}

[Term]
id: MONDO:0008593
name: trichomegaly
synonym: "eyelashes, long" RELATED [OMIM:190330]
synonym: "TCMGLY" RELATED [MONDO:Lexical, OMIM:190330]
synonym: "trichomegaly" EXACT [MONDO:Lexical, OMIM:190330]
synonym: "trichomegaly; TCMGLY" RELATED [OMIM:190330]
xref: OMIM:190330 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854699
property_value: exactMatch http://identifiers.org/omim/190330

[Term]
id: MONDO:0008594
name: familial multiple discoid fibromas
def: "gene locus mutation." [Orphanet:538756]
subset: ordo_disease
synonym: "discoid fibromas, familial multiple" RELATED [MONDO:Lexical, OMIM:190340]
synonym: "discoid fibromas, familial multiple; FMDF" RELATED [OMIM:190340]
synonym: "familial multiple trichodiscomas" RELATED [GARD:0008479]
synonym: "FMDF" EXACT [MONDO:Lexical, OMIM:190340]
synonym: "hereditary multiple trichodiscomas" RELATED [GARD:0008479]
synonym: "small benign fibrovascular tumor of the dermal part of the hair disk" RELATED [GARD:0008479]
synonym: "trichodiscomas, familial multiple" RELATED [OMIM:190340]
xref: GARD:0008479 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190340 {source="Orphanet:538756", source="MONDO:equivalentTo"}
xref: Orphanet:538756 {source="MONDO:equivalentTo"}
xref: UMLS:C1860850 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:190340"}
is_a: MONDO:0015950 {source="Orphanet:538756"} ! inherited skin tumor
property_value: exactMatch http://identifiers.org/mesh/C536847
property_value: exactMatch http://identifiers.org/omim/190340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860850
property_value: exactMatch Orphanet:538756

[Term]
id: MONDO:0008595
name: trichoepitheliomas, multiple desmoplastic
synonym: "trichoepitheliomas, multiple desmoplastic" EXACT [OMIM:190345]
xref: MESH:C566034 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190345 {source="MONDO:equivalentTo"}
xref: UMLS:C1860849 {source="OMIM:190345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0020593 ! trichoblastoma
property_value: exactMatch http://identifiers.org/mesh/C566034
property_value: exactMatch http://identifiers.org/omim/190345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860849

[Term]
id: MONDO:0008596
name: trichorhinophalangeal syndrome type I
def: "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." [PMID:10615131]
synonym: "Giedion syndrome" RELATED [GARD:0007800]
synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743]
synonym: "trichorhinophalangeal dysplasia type I" RELATED [DOID:14743, MTH:NOCODE]
synonym: "trichorhinophalangeal syndrome type 1" RELATED [GARD:0007800]
synonym: "trichorhinophalangeal syndrome, type 1" RELATED [OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type I" RELATED [MONDO:Lexical, OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type I; TRPS1" RELATED [OMIM:190350]
synonym: "TRPS 1" RELATED [OMIM:190350]
synonym: "TRPS1" RELATED [MONDO:Lexical, OMIM:190350]
synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743]
synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743]
xref: DOID:14743 {source="MONDO:equivalentTo"}
xref: GARD:0007800 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536820 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: NCIT:C75109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.78/0.98", source="DOID:14743"}
xref: OMIM:190350 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: SCTID:254091006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95", source="DOID:14743"}
is_a: MONDO:0019176 {source="ORDO:77258/btnt"} ! trichorhinophalangeal syndrome type I or III
property_value: closeMatch http://identifiers.org/snomedct/239016009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432233
property_value: exactMatch DOID:14743
property_value: exactMatch http://identifiers.org/mesh/C536820
property_value: exactMatch http://identifiers.org/omim/190350
property_value: exactMatch http://identifiers.org/snomedct/254091006
property_value: exactMatch NCIT:C75109

[Term]
id: MONDO:0008597
name: trichorhinophalangeal syndrome, type III
def: "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [MONDO:cjm, PMID:4025405]
synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351]
synonym: "trichorhinophalangeal syndrome type 3" RELATED [GARD:0007802]
synonym: "trichorhinophalangeal syndrome, type 3" RELATED [MONDO:Lexical]
synonym: "trichorhinophalangeal syndrome, type III; TRPS3" RELATED [OMIM:190351]
synonym: "TRPS 3" RELATED [GARD:0007802]
synonym: "TRPS3" RELATED [MONDO:Lexical, OMIM:190351]
xref: GARD:0007802 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:190351 {source="MONDO:equivalentTo"}
xref: UMLS:C1860823 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:190351"}
is_a: MONDO:0019176 {source="ORDO:77258/btnt"} ! trichorhinophalangeal syndrome type I or III
property_value: exactMatch http://identifiers.org/omim/190351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860823

[Term]
id: MONDO:0008598
name: trichodysplasia-xeroderma syndrome
def: "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." [Orphanet:3361]
subset: ordo_malformation_syndrome {source="Orphanet:3361"}
synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261]
synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360]
xref: GARD:0005261 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C566032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190360 {source="MONDO:equivalentTo", source="Orphanet:3361", source="ORDO:3361/e"}
xref: Orphanet:3361 {source="MONDO:equivalentTo", source="OMIM:190360"}
xref: UMLS:C1860822 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3361", source="OMIM:190360"}
is_a: MONDO:0019282 {source="Orphanet:3361"} ! syndromic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C566032
property_value: exactMatch http://identifiers.org/omim/190360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860822
property_value: exactMatch Orphanet:3361

[Term]
id: MONDO:0008599
name: trigeminal neuralgia
def: "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." [https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia]
subset: gard_rare {source="GARD:0007805"}
subset: ordo_disease {source="Orphanet:221091"}
synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern]
synonym: "Tic douloureux" RELATED [OMIM:190400]
synonym: "trifacial neuralgia" EXACT [DOID:12098, MTHICD9_2006:350.1]
synonym: "trifocal neuralgia" EXACT [CSP2005:2042-6701, DOID:12098]
synonym: "trigeminal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM_2006:350.1, OMIM:190400]
xref: COHD:379801 {source="MONDO:equivalentTo"}
xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"}
xref: EFO:1001219 {source="MONDO:equivalentTo"}
xref: GARD:0007805 {source="MONDO:equivalentTo"}
xref: ICD10:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"}
xref: ICD9:350.1 {source="MONDO:equivalentTo", source="DOID:12098", source="i2s"}
xref: MedDRA:10044652 {source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"}
xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="MONDO:ontobio", source="EFO:1001219"}
xref: OMIM:190400 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"}
xref: Orphanet:221091 {source="OMIM:190400", source="MONDO:equivalentTo"}
xref: SCTID:31681005 {source="MONDO:equivalentTo", source="DOID:12098", source="EFO:1001219", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0040997 {source="OMIM:190400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e"}
is_a: MONDO:0003543 {source="DOID:12098", source="MESH:D014277", source="MONDO:Redundant", source="linkedlifedata"} ! trigeminal nerve disease
is_a: MONDO:0016374 {source="MONDO:Redundant", source="MONDOLEX:0008599", source="Orphanet:221091"} ! cranial neuralgia
property_value: closeMatch http://identifiers.org/snomedct/155066002
property_value: closeMatch http://identifiers.org/snomedct/193090007
property_value: closeMatch http://identifiers.org/snomedct/322769008
property_value: exactMatch DOID:12098
property_value: exactMatch http://identifiers.org/meddra/10044652
property_value: exactMatch http://identifiers.org/mesh/D014277
property_value: exactMatch http://identifiers.org/omim/190400
property_value: exactMatch http://identifiers.org/snomedct/31681005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040997
property_value: exactMatch Orphanet:221091
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia xsd:anyURI {source="GARD:0007805"}

[Term]
id: MONDO:0008600
name: trigger thumb
def: "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." [MESH:D052582]
subset: gard_rare {source="GARD:0008484"}
synonym: "bilateral trigger thumb (type)" RELATED [GARD:0008484]
synonym: "congenital trigger thumb (type)" RELATED [GARD:0008484]
synonym: "recurrent trigger thumb (type)" RELATED [GARD:0008484]
synonym: "trigger thumb" EXACT [OMIM:190410]
xref: GARD:0008484 {source="MONDO:equivalentTo"}
xref: MESH:D052582 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190410 {source="MONDO:equivalentTo"}
xref: SCTID:42786005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
xref: UMLS:C0158328 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0410060
property_value: exactMatch http://identifiers.org/mesh/D052582
property_value: exactMatch http://identifiers.org/omim/190410
property_value: exactMatch http://identifiers.org/snomedct/42786005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158328
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb xsd:anyURI {source="GARD:0008484"}

[Term]
id: MONDO:0008601
name: triglyceride storage disease, type 1
synonym: "triglyceride storage disease, type I" RELATED [OMIM:190420]
xref: MESH:C566031 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190420 {source="MONDO:equivalentTo"}
xref: UMLS:C1860821 {source="OMIM:190420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000155 {source="DC-OMIM:190420"} ! triglyceride storage disease
property_value: exactMatch http://identifiers.org/mesh/C566031
property_value: exactMatch http://identifiers.org/omim/190420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860821

[Term]
id: MONDO:0008602
name: triglyceride storage disease, type 2
synonym: "triglyceride storage disease, type II" RELATED [OMIM:190430]
xref: MESH:C566030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190430 {source="MONDO:equivalentTo"}
xref: UMLS:C1860820 {source="OMIM:190430", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000155 {source="DC-OMIM:190430"} ! triglyceride storage disease
property_value: exactMatch http://identifiers.org/mesh/C566030
property_value: exactMatch http://identifiers.org/omim/190430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860820

[Term]
id: MONDO:0008603
name: trigonocephaly 1
def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis, metopic" RELATED [OMIM:190440]
synonym: "FGFR1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated trigonocephaly caused by mutation in FGFR1" EXACT [MONDO:design_pattern]
synonym: "TRIGNO1" RELATED [MONDO:Lexical, OMIM:190440]
synonym: "trigonocephaly 1" EXACT [MONDO:Lexical, OMIM:190440]
synonym: "trigonocephaly 1; TRIGNO1" RELATED [OMIM:190440]
synonym: "trigonocephaly type 1" EXACT [MONDORULE:1, OMIM:190440]
xref: OMIM:190440 {source="MONDO:equivalentTo"}
is_a: MONDO:0018065 {source="MONDO:Redundant", source="ORDO:3366/btnt"} ! isolated trigonocephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432122
property_value: exactMatch http://identifiers.org/omim/190440

[Term]
id: MONDO:0008604
name: triphalangeal thumb with double phalanges
synonym: "triphalangeal thumb with double phalanges" EXACT [OMIM:190500]
xref: MESH:C566028 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190500 {source="MONDO:equivalentTo"}
xref: UMLS:C1860807 {source="NCBI:mim2gene_medline", source="OMIM:190500", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566028
property_value: exactMatch http://identifiers.org/omim/190500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860807

[Term]
id: MONDO:0008605
name: triphalangeal thumb, Nonopposable
synonym: "non-opposable triphalangeal thumb" RELATED [GARD:0005288]
synonym: "TPT" RELATED [GARD:0005288]
synonym: "triphalangeal thumb non opposable" RELATED [GARD:0005288]
synonym: "triphalangeal thumb, Nonopposable" EXACT [OMIM:190600]
xref: GARD:0005288 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536562 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:190600 {source="MONDO:equivalentTo"}
xref: UMLS:C2931238 {source="OMIM:190600", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860806
property_value: exactMatch http://identifiers.org/mesh/C536562
property_value: exactMatch http://identifiers.org/omim/190600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931238

[Term]
id: MONDO:0008606
name: Say-field-Coldwell syndrome
def: "Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." [Orphanet:3133]
subset: gard_rare {source="GARD:0000242"}
subset: ordo_malformation_syndrome {source="Orphanet:3133"}
synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" RELATED [GARD:0000242]
synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650]
synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [Orphanet:3133]
xref: GARD:0000242 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:3133", source="ORDO:3133/attributed", source="ORDO:3133/ntbt"}
xref: MESH:C536619 {source="Orphanet:3133", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3133/e"}
xref: OMIM:190650 {source="Orphanet:3133", source="MONDO:equivalentTo", source="ORDO:3133/e"}
xref: Orphanet:3133 {source="OMIM:190650", source="MONDO:equivalentTo"}
xref: UMLS:C1860805 {source="OMIM:190650", source="Orphanet:3133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3133/e"}
is_a: MONDO:0017434 {source="Orphanet:3133"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C536619
property_value: exactMatch http://identifiers.org/omim/190650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860805
property_value: exactMatch Orphanet:3133
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome xsd:anyURI {source="GARD:0000242"}

[Term]
id: MONDO:0008607
name: triphalangeal thumbs-brachyectrodactyly syndrome
def: "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." [Orphanet:2947]
subset: ordo_malformation_syndrome {source="Orphanet:2947"}
synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [Orphanet:2947]
synonym: "triphalangeal thumb and brachy-ectrodactyly syndrome" RELATED [GARD:0005290]
synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:0005290]
synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290]
synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680]
xref: GARD:0005290 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="ORDO:2947/attributed", source="ORDO:2947/ntbt", source="Orphanet:2947"}
xref: MESH:C536564 {source="MONDO:equivalentTo", source="ORDO:2947/e", source="MONDO:ontobio", source="Orphanet:2947"}
xref: OMIM:190680 {source="MONDO:equivalentTo", source="ORDO:2947/e", source="Orphanet:2947"}
xref: Orphanet:2947 {source="MONDO:equivalentTo", source="OMIM:190680"}
xref: UMLS:C1860804 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2947/e", source="MEDGEN:kboom-pr92-c96", source="OMIM:190680", source="Orphanet:2947"}
is_a: MONDO:0017434 {source="Orphanet:2947"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C536564
property_value: exactMatch http://identifiers.org/omim/190680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860804
property_value: exactMatch Orphanet:2947

[Term]
id: MONDO:0008608
name: Down syndrome
def: "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." [Orphanet:870]
comment: May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future {source="EFO:0001064"}
subset: ordo_malformation_syndrome {source="Orphanet:870"}
synonym: "complete trisomy 21 syndrome" EXACT [DOID:14250]
synonym: "Down syndrome" EXACT [NCIT:C2993, OMIM:190685]
synonym: "Down syndrome chromosome region" RELATED [OMIM:190685]
synonym: "Down syndrome critical region" RELATED [OMIM:190685]
synonym: "Down's syndrome" EXACT [DOID:14250]
synonym: "Down's syndrome - trisomy 21" EXACT [DOID:14250]
synonym: "Downs syndrome" EXACT [DOID:14250, NCIT:C2993]
synonym: "G trisomy" EXACT [DOID:14250, MTHICD9_2006:758.0]
synonym: "leukemia, megakaryoblastic, of Down syndrome" RELATED [OMIM:190685]
synonym: "transient myeloproliferative disorder of Down syndrome" RELATED [OMIM:190685]
synonym: "trisomy 21" EXACT [NCIT:C2993, OMIM:190685, Orphanet:870]
synonym: "trisomy 21 (Down syndrome)" EXACT [NCIT:C2993]
synonym: "trisomy 21 syndrome" EXACT [CSP2005:1254-8068, DOID:14250, NCIT:C2993]
xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"}
xref: EFO:0001064 {source="MONDO:equivalentTo"}
xref: GARD:0010247 {source="MONDO:equivalentTo"}
xref: ICD10:Q90 {source="DOID:14250"}
xref: ICD10:Q90.0 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"}
xref: ICD10:Q90.1 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"}
xref: ICD10:Q90.2 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"}
xref: ICD10:Q90.9 {source="ORDO:870/btnt", source="DOID:14250", source="ORDO:870/specific", source="Orphanet:870"}
xref: ICD9:758.0 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10044688 {source="ORDO:870/e", source="Orphanet:870"}
xref: MESH:D004314 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="ORDO:870/e", source="Orphanet:870"}
xref: NCIT:C2993 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"}
xref: NIFSTD:nlx_dys_20090502 {source="EFO:0001064"}
xref: OMIM:190685 {source="DOID:14250", source="MONDO:equivalentTo", source="ORDO:870/e", source="Orphanet:870"}
xref: Orphanet:870 {source="OMIM:190685", source="MONDO:equivalentTo"}
xref: SCTID:41040004 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0013080 {source="OMIM:190685", source="DOID:14250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C2993", source="ORDO:870/e", source="Orphanet:870"}
is_a: MONDO:0020051 {source="Orphanet:870"} ! total autosomal trisomy
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:870", source="indirect"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C2993", source="indirect"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0003847 {source="DOID:14250/inferred", source="EFO:0001064", source="MESH:D004314/inferred", source="MONDO:Redundant", source="NCIT:C2993", source="indirect", source="linkedlifedata"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:870"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015506 {source="Orphanet:870"} ! rare syndrome with cardiac malformations
relationship: excluded_subClassOf MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:870"} ! Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0019040 {source="DOID:14250", source="MESH:D004314", source="Orphanet:870/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly
property_value: closeMatch http://identifiers.org/snomedct/157019002
property_value: closeMatch http://identifiers.org/snomedct/205614001
property_value: closeMatch http://identifiers.org/snomedct/205618003
property_value: closeMatch http://identifiers.org/snomedct/254263008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860786
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860787
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860788
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860789
property_value: closeMatch NCIT:C101222
property_value: exactMatch DOID:14250
property_value: exactMatch http://identifiers.org/meddra/10044688
property_value: exactMatch http://identifiers.org/mesh/D004314
property_value: exactMatch http://identifiers.org/omim/190685
property_value: exactMatch http://identifiers.org/snomedct/41040004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013080
property_value: exactMatch NCIT:C2993
property_value: exactMatch Orphanet:870

[Term]
id: MONDO:0008609
name: Tristichiasis
synonym: "eyelashes, three rows of" RELATED [OMIM:190800]
synonym: "Tristichiasis" EXACT [OMIM:190800]
xref: OMIM:190800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860785
property_value: exactMatch http://identifiers.org/omim/190800

[Term]
id: MONDO:0008610
name: blue color blindness
def: "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." [Orphanet:88629]
subset: ordo_disease {source="Orphanet:88629"}
synonym: "blue colorblindness" RELATED [OMIM:190900]
synonym: "blue colour blindness" EXACT [Orphanet:88629]
synonym: "colorblindness, tritan" RELATED [OMIM:190900]
synonym: "colorblindness, tritanopic" RELATED [OMIM:190900]
synonym: "congenital tritanopia" EXACT [Orphanet:88629]
synonym: "tritan colour blindness" EXACT [Orphanet:88629]
synonym: "tritan defect" EXACT [DOID:11661, ICD9CM_2006:368.53]
synonym: "tritanopia" EXACT [DOID:11661, MTHICD9_2006:368.53, OMIM:190900]
xref: DOID:11661 {source="MONDO:equivalentTo"}
xref: ICD10:H53.5 {source="ORDO:88629/ntbt", source="Orphanet:88629", source="ORDO:88629/inclusion"}
xref: ICD10:H53.55 {source="DOID:11661"}
xref: ICD9:368.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:11661"}
xref: OMIM:190900 {source="MONDO:equivalentTo", source="ORDO:88629/e", source="Orphanet:88629", source="DOID:11661"}
xref: Orphanet:88629 {source="MONDO:equivalentTo", source="OMIM:190900"}
xref: SCTID:51886007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:11661"}
xref: UMLS:C0155017 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88629", source="DOID:11661"}
is_a: MONDO:0001703 {source="DOID:11661", source="MONDOLEX:0008610", source="Orphanet:88629", source="linkedlifedata", source="linkedlifedata/inferred"} ! color vision disorder
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://identifiers.org/snomedct/85049009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412770
property_value: exactMatch DOID:11661
property_value: exactMatch http://identifiers.org/omim/190900
property_value: exactMatch http://identifiers.org/snomedct/51886007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155017
property_value: exactMatch Orphanet:88629

[Term]
id: MONDO:0008611
name: humerus trochlea aplasia
def: "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." [Orphanet:3383]
subset: gard_rare {source="GARD:0002750"}
subset: ordo_malformation_syndrome {source="Orphanet:3383"}
synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750]
synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750]
synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000]
xref: GARD:0002750 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.0 {source="Orphanet:3383", source="ORDO:3383/attributed", source="ORDO:3383/ntbt"}
xref: MESH:C566022 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191000 {source="MONDO:equivalentTo", source="Orphanet:3383", source="ORDO:3383/e"}
xref: Orphanet:3383 {source="MONDO:equivalentTo", source="OMIM:191000"}
xref: SCTID:732928005 {source="MONDO:equivalentTo"}
xref: UMLS:C1860773 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3383", source="OMIM:191000"}
is_a: MONDO:0017432 {source="Orphanet:3383"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:3383", source="Orphanet:3383/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C566022
property_value: exactMatch http://identifiers.org/omim/191000
property_value: exactMatch http://identifiers.org/snomedct/732928005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860773
property_value: exactMatch Orphanet:3383
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of xsd:anyURI {source="GARD:0002750"}

[Term]
id: MONDO:0008612
name: tuberous sclerosis 1
def: "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." [NCIT:C75122]
subset: gard_rare
synonym: "TSC1" RELATED [MONDO:Lexical, OMIM:191100]
synonym: "TSC1 tuberous sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tuberose sclerosis" RELATED [OMIM:191100]
synonym: "tuberous sclerosis 1" EXACT [MONDO:Lexical, OMIM:191100]
synonym: "tuberous sclerosis 1; TSC1" RELATED [OMIM:191100]
synonym: "tuberous sclerosis caused by mutation in TSC1" EXACT [MONDO:design_pattern]
synonym: "tuberous sclerosis Complex" RELATED [OMIM:191100]
synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1, OMIM:191100]
synonym: "tuberous sclerosis, type 1" RELATED [GARD:0005380]
xref: DOID:0080324 {source="MONDO:equivalentTo"}
xref: GARD:0005380 {source="MONDO:equivalentTo"}
xref: NCIT:C75122 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.73/2.02"}
xref: OMIM:191100 {source="GARD:0005380", source="MONDO:equivalentTo"}
is_a: MONDO:0001734 {source="DC-OMIM:191100", source="MONDO:Redundant", source="MONDOLEX:0008612", source="NCIT:C75122", source="OMIM:191100"} ! tuberous sclerosis
is_a: MONDO:0019341 {source="ORDO:805/btnt"} ! tuberous sclerosis complex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854465
property_value: exactMatch DOID:0080324
property_value: exactMatch http://identifiers.org/omim/191100
property_value: exactMatch NCIT:C75122

[Term]
id: MONDO:0008613
name: Tuftsin deficiency
synonym: "Tuftsin deficiency" EXACT [OMIM:191150]
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562872 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191150 {source="MONDO:equivalentTo"}
xref: SCTID:234584007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0398741 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191150"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562872
property_value: exactMatch http://identifiers.org/omim/191150
property_value: exactMatch http://identifiers.org/snomedct/234584007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398741

[Term]
id: MONDO:0008614
name: ST3
synonym: "cervical carcinoma, tumor-suppressor Gene involved 1N" RELATED [OMIM:191181]
synonym: "ST3" EXACT [MONDO:Lexical, OMIM:191181]
synonym: "suppressor of tumorigenicity 3" RELATED [MONDO:Lexical, OMIM:191181]
synonym: "suppressor of tumorigenicity 3; ST3" RELATED [OMIM:191181]
synonym: "tumor-suppressor Gene, Hela cell type" RELATED [OMIM:191181]
xref: OMIM:191181 {source="MONDO:equivalentTo"}
xref: UMLS:C1860658 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191181"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/191181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860658

[Term]
id: MONDO:0008615
name: tune deafness
synonym: "amusia, congenital" RELATED [OMIM:191200]
synonym: "Dysmelodia" RELATED [OMIM:191200]
synonym: "tone deafness" RELATED [OMIM:191200]
synonym: "tune deafness" EXACT [OMIM:191200]
xref: ICD9:389.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566019 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191200 {source="MONDO:equivalentTo"}
xref: SCTID:55647004 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo"}
xref: UMLS:C1860646 {source="OMIM:191200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566019
property_value: exactMatch http://identifiers.org/omim/191200
property_value: exactMatch http://identifiers.org/snomedct/55647004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860646

[Term]
id: MONDO:0008616
name: twinning due to superfetation
synonym: "superfetation twinning" RELATED [OMIM:191250]
synonym: "twinning due to superfetation" EXACT [OMIM:191250]
xref: MESH:C566018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191250 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860645
property_value: exactMatch http://identifiers.org/mesh/C566018
property_value: exactMatch http://identifiers.org/omim/191250

[Term]
id: MONDO:0008617
name: inflammatory bowel disease 11
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22." [DOID:0110894, PMID:8841195]
synonym: "IBD11" EXACT [DOID:0110894, MONDO:Lexical, OMIM:191390]
synonym: "inflammatory bowel disease 11" EXACT [MONDO:Lexical, OMIM:191390]
synonym: "inflammatory bowel disease 11; IBD11" RELATED [OMIM:191390]
synonym: "inflammatory bowel disease type 11" EXACT [DOID:0110894, MONDORULE:2]
xref: DOID:0110894 {source="MONDO:equivalentTo"}
xref: MESH:C567154 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191390 {source="MONDO:equivalentTo", source="DOID:0110894"}
xref: UMLS:C2674051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191390"}
is_a: MONDO:0005265 {source="DOID:0110894", source="MESH:C567154", source="OMIM:191390"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110894
property_value: exactMatch http://identifiers.org/mesh/C567154
property_value: exactMatch http://identifiers.org/omim/191390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674051

[Term]
id: MONDO:0008618
name: mesomelic dwarfism, Reinhardt-Pfeiffer type
def: "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." [Orphanet:2634]
subset: ordo_malformation_syndrome {source="Orphanet:2634"}
synonym: "hypoplasia of ulna and fibula" RELATED [GARD:0003555]
synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [OMIM:191400]
synonym: "mesomelic dysplasia Reinhardt-Pfeiffer type" RELATED [GARD:0003555]
synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2634]
synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634]
synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400]
xref: GARD:0003555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:2634/attributed", source="ORDO:2634/ntbt", source="Orphanet:2634"}
xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e", source="MONDO:ontobio"}
xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e"}
xref: Orphanet:2634 {source="OMIM:191400", source="MONDO:equivalentTo"}
xref: SCTID:715472000 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C1860616 {source="OMIM:191400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e"}
is_a: MONDO:0019697 {source="Orphanet:2634"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537349
property_value: exactMatch http://identifiers.org/omim/191400
property_value: exactMatch http://identifiers.org/snomedct/715472000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860616
property_value: exactMatch Orphanet:2634

[Term]
id: MONDO:0008619
name: ulna metaphyseal dysplasia syndrome
def: "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." [Orphanet:1837]
subset: gard_rare {source="GARD:0004740"}
subset: ordo_disease {source="Orphanet:1837"}
synonym: "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" RELATED [GARD:0004740]
synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [OMIM:191420]
synonym: "metaphyseal chondroplasia Rosenberg type" RELATED [GARD:0004740]
synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740]
synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837]
synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420]
xref: GARD:0004740 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.5 {source="Orphanet:1837", source="ORDO:1837/attributed", source="ORDO:1837/ntbt"}
xref: MESH:C536935 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1837", source="ORDO:1837/e"}
xref: OMIM:191420 {source="MONDO:equivalentTo", source="Orphanet:1837", source="ORDO:1837/e"}
xref: Orphanet:1837 {source="OMIM:191420", source="MONDO:equivalentTo"}
xref: SCTID:715242008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1860615 {source="OMIM:191420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1837", source="ORDO:1837/e"}
is_a: MONDO:0019693 {source="Orphanet:1837"} ! multiple metaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536935
property_value: exactMatch http://identifiers.org/omim/191420
property_value: exactMatch http://identifiers.org/snomedct/715242008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860615
property_value: exactMatch Orphanet:1837
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome xsd:anyURI {source="GARD:0004740"}

[Term]
id: MONDO:0008620
name: upper limb mesomelic dysplasia
def: "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." [Orphanet:2497]
subset: ordo_malformation_syndrome {source="Orphanet:2497"}
synonym: "Fryns Hofkens Fabry syndrome" RELATED [GARD:0002408]
synonym: "Fryns-Hofkens-Fabry syndrome" EXACT [Orphanet:2497]
synonym: "ulna hypoplasia" EXACT [Orphanet:2497]
synonym: "ulnar hypoplasia" RELATED [OMIM:191440]
synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440]
xref: GARD:0002408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="Orphanet:2497", source="ORDO:2497/attributed", source="ORDO:2497/ntbt"}
xref: MESH:C538069 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191440 {source="ORDO:2497/e", source="Orphanet:2497", source="MONDO:equivalentTo"}
xref: Orphanet:2497 {source="MONDO:equivalentTo", source="OMIM:191440"}
is_a: MONDO:0019697 {source="Orphanet:2497"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C538069
property_value: exactMatch http://identifiers.org/omim/191440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860614
property_value: exactMatch Orphanet:2497

[Term]
id: MONDO:0008621
name: uncombable hair syndrome
def: "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." [Orphanet:1410]
subset: gard_rare {source="GARD:0005404"}
subset: ordo_disease {source="Orphanet:1410"}
synonym: "cheveux incoiffables" RELATED [GARD:0005404]
synonym: "pili trianguli et canaliculi" EXACT [OMIM:191480, Orphanet:1410]
synonym: "spun glass hair" RELATED [GARD:0005404]
synonym: "uncombable hair syndrome" EXACT [OMIM:191480]
synonym: "unmanageable hair syndrome" RELATED [GARD:0005404]
xref: DC:0000734 {source="MONDO:equivalentTo"}
xref: GARD:0005404 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.1 {source="Orphanet:1410", source="ORDO:1410/attributed", source="ORDO:1410/ntbt"}
xref: MESH:C536939 {source="ORDO:1410/e", source="Orphanet:1410", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"}
xref: SCTID:254230001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0432347 {source="ORDO:1410/e", source="NCBI:mim2gene_medline", source="Orphanet:1410", source="MONDO:equivalentTo", source="OMIM:191480"}
is_a: MONDO:0019281 {source="Orphanet:1410"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C536939
property_value: exactMatch http://identifiers.org/snomedct/254230001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432347
property_value: exactMatch Orphanet:1410
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome xsd:anyURI {source="GARD:0005404"}

[Term]
id: MONDO:0008622
name: tricho-retino-dento-digital syndrome
def: "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." [Orphanet:1264]
subset: ordo_malformation_syndrome {source="Orphanet:1264"}
synonym: "Bork Stender Schmidt syndrome" RELATED [GARD:0000938]
synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264]
synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482]
synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264]
xref: GARD:0000938 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="Orphanet:1264", source="ORDO:1264/attributed", source="ORDO:1264/ntbt"}
xref: MESH:C536576 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191482 {source="Orphanet:1264", source="ORDO:1264/e", source="MONDO:equivalentTo"}
xref: Orphanet:1264 {source="MONDO:equivalentTo", source="OMIM:191482"}
xref: SCTID:719910004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46"}
xref: UMLS:C1860605 {source="Orphanet:1264", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191482"}
is_a: MONDO:0019287 {source="Orphanet:1264", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536576
property_value: exactMatch http://identifiers.org/omim/191482
property_value: exactMatch http://identifiers.org/snomedct/719910004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860605
property_value: exactMatch Orphanet:1264

[Term]
id: MONDO:0008623
name: Undritz anomaly
synonym: "hypersegmentation of nuclei of polymorphonuclear leukocytes" RELATED [OMIM:191500]
synonym: "Undritz anomaly" EXACT [OMIM:191500]
xref: MESH:C566014 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191500 {source="MONDO:equivalentTo"}
xref: UMLS:C1860604 {source="OMIM:191500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566014
property_value: exactMatch http://identifiers.org/omim/191500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860604

[Term]
id: MONDO:0008624
name: Upington disease
def: "Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." [Orphanet:3408]
subset: gard_rare {source="GARD:0005421"}
subset: ordo_malformation_syndrome {source="Orphanet:3408"}
synonym: "familial dyschondroplasia" RELATED [GARD:0005421]
synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408]
synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520]
synonym: "Upington disease" EXACT [OMIM:191520]
xref: GARD:0005421 {source="MONDO:equivalentTo"}
xref: ICD10:M91.8 {source="ORDO:3408/attributed", source="ORDO:3408/ntbt", source="Orphanet:3408"}
xref: MESH:C536472 {source="MONDO:equivalentTo", source="Orphanet:3408", source="MONDO:ontobio", source="ORDO:3408/e"}
xref: OMIM:191520 {source="MONDO:equivalentTo", source="Orphanet:3408", source="ORDO:3408/e"}
xref: Orphanet:3408 {source="OMIM:191520", source="MONDO:equivalentTo"}
xref: SCTID:719041000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1860596 {source="OMIM:191520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3408", source="ORDO:3408/e"}
is_a: MONDO:0019708 {source="Orphanet:3408"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C536472
property_value: exactMatch http://identifiers.org/omim/191520
property_value: exactMatch http://identifiers.org/snomedct/719041000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860596
property_value: exactMatch Orphanet:3408
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5421/upington-disease xsd:anyURI {source="GARD:0005421"}

[Term]
id: MONDO:0008625
name: urate-binding globulin, decrease 1N
synonym: "urate-binding globulin, decrease IN" RELATED [OMIM:191530]
synonym: "urate-binding globulin, decrease type 1N" EXACT [MONDORULE:4, OMIM:191530]
xref: MESH:C566013 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191530 {source="MONDO:equivalentTo"}
xref: UMLS:C1860587 {source="OMIM:191530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566013/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566013
property_value: exactMatch http://identifiers.org/omim/191530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860587

[Term]
id: MONDO:0008626
name: ureter, bifid or double
synonym: "ureter, bifid or double" EXACT [OMIM:191550]
xref: MESH:C566012 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191550 {source="MONDO:equivalentTo"}
xref: UMLS:C1860586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566012
property_value: exactMatch http://identifiers.org/omim/191550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860586

[Term]
id: MONDO:0008627
name: ureter cancer
def: "A malignant neoplasm involving the ureter" [MONDO:DesignPattern]
synonym: "cancer of ureter" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the ureter" EXACT [NCIT:C7543]
synonym: "malignant neoplasm of ureter" EXACT [MONDO:patterns/cancer, NCIT:C7543]
synonym: "malignant tumor of the ureter" EXACT [NCIT:C7543]
synonym: "malignant tumor of ureter" EXACT [NCIT:C7543]
synonym: "malignant tumour of ureter" EXACT [DOID:11819]
synonym: "malignant ureter neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7543]
synonym: "malignant ureter tumor" EXACT [NCIT:C7543]
synonym: "malignant ureteral neoplasm" EXACT [NCIT:C7543]
synonym: "malignant ureteral tumor" EXACT [DOID:11819, NCIT:C7543]
synonym: "ureter cancer" EXACT [MONDO:patterns/location]
synonym: "ureter, cancer OF" RELATED [OMIM:191600]
xref: DOID:11819 {source="MONDO:equivalentTo"}
xref: ICD10:C66 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: ICD9:189.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11819"}
xref: MESH:D014516 {source="MONDO:equivalentTo", source="DOID:11819", source="MONDO:ontobio"}
xref: NCIT:C7543 {source="MONDO:equivalentTo", source="DOID:11819", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: OMIM:191600 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: SCTID:363458004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.06", source="DOID:11819"}
xref: UMLS:C0153619 {source="NCIT:C7543", source="NCBI:mim2gene_medline", source="OMIM:191600", source="MONDO:equivalentTo", source="DOID:11819"}
is_a: MONDO:0006295 {source="DOID:11819", source="ICD10:C66", source="MONDO:Redundant", source="NCIT:C7543"} ! malignant urinary system neoplasm
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C7543", source="OWLReasoner:2017", source="linkedlifedata"} ! ureter neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154543003
property_value: closeMatch http://identifiers.org/snomedct/94121005
property_value: exactMatch DOID:11819
property_value: exactMatch http://identifiers.org/mesh/D014516
property_value: exactMatch http://identifiers.org/omim/191600
property_value: exactMatch http://identifiers.org/snomedct/363458004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153619
property_value: exactMatch NCIT:C7543

[Term]
id: MONDO:0008628
name: ureterocele (disease)
def: "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." [NCIT:P378]
synonym: "ureterocele" EXACT [MONDO:ambiguous, OMIM:191650]
xref: COHD:192440 {source="MONDO:equivalentTo"}
xref: DOID:4022 {source="MONDO:equivalentTo", source="EFO:1001227"}
xref: EFO:1001227 {source="MONDO:equivalentTo"}
xref: HP:0000070 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056433 {source="EFO:1001227"}
xref: MESH:D014518 {source="MONDO:equivalentTo", source="EFO:1001227", source="MONDO:ontobio", source="DOID:4022"}
xref: NCIT:C123159 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4022"}
xref: OMIM:191650 {source="MONDO:equivalentTo", source="DOID:4022"}
xref: SCTID:12818004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001227", source="DOID:4022"}
is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518", source="NCIT:C123159/inferred", source="linkedlifedata/inferred"} ! ureteral disease
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006026 {source="EFO:1001227"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/meddra/10056433
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041960
property_value: exactMatch DOID:4022
property_value: exactMatch http://identifiers.org/mesh/D014518
property_value: exactMatch http://identifiers.org/omim/191650
property_value: exactMatch http://identifiers.org/snomedct/12818004
property_value: exactMatch NCIT:C123159

[Term]
id: MONDO:0008629
name: urolithiasis, uric acid, autosomal dominant
synonym: "nephrolithiasis, uric acid, autosomal dominant" RELATED [OMIM:191700]
synonym: "urolithiasis, uric acid, autosomal dominant" EXACT [OMIM:191700]
xref: OMIM:191700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674049
property_value: exactMatch http://identifiers.org/omim/191700

[Term]
id: MONDO:0008630
name: urinary bladder, atony of
synonym: "atony of urinary bladder" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "urinary bladder, atony of" EXACT [OMIM:191800]
xref: OMIM:191800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403645
property_value: exactMatch http://identifiers.org/omim/191800

[Term]
id: MONDO:0008631
name: obsolete renal agenesis
is_obsolete: true
replaced_by: MONDO:0018470

[Term]
id: MONDO:0008632
name: urticaria, aquagenic
def: "aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." [https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria]
subset: gard_rare {source="GARD:0010901"}
synonym: "aquagenic urticaria" RELATED [GARD:0010901]
synonym: "urticaria, aquagenic" EXACT [OMIM:191850]
xref: GARD:0010901 {source="MONDO:equivalentTo"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562481 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191850 {source="MONDO:equivalentTo"}
xref: SCTID:89870006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C0263334 {source="OMIM:191850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005492 ! urticaria (disease)
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C562481
property_value: exactMatch http://identifiers.org/omim/191850
property_value: exactMatch http://identifiers.org/snomedct/89870006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263334
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria xsd:anyURI {source="GARD:0010901"}

[Term]
id: MONDO:0008633
name: Muckle-Wells syndrome
def: "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." [Orphanet:575]
subset: ordo_disease {source="Orphanet:575"}
synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [OMIM:191900]
synonym: "Muckle Wells syndrome" RELATED [GARD:0008472]
synonym: "Muckle-Wells syndrome" EXACT [MONDO:Lexical, OMIM:191900]
synonym: "MUCKLE-Wells syndrome; MWS" RELATED [OMIM:191900]
synonym: "MWS" RELATED [MONDO:Lexical, OMIM:191900]
synonym: "neutrophilic urticaria" EXACT [Orphanet:575]
synonym: "Uda syndrome" RELATED [OMIM:191900]
synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472]
synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900]
xref: DOID:0050854 {source="MONDO:equivalentTo"}
xref: GARD:0008472 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E85.0 {source="ORDO:575/attributed", source="ORDO:575/ntbt", source="Orphanet:575"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064569 {source="ORDO:575/e", source="Orphanet:575"}
xref: NCIT:C119054 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.31"}
xref: OMIM:191900 {source="MONDO:equivalentTo", source="ORDO:575/e", source="Orphanet:575"}
xref: Orphanet:575 {source="MONDO:equivalentTo", source="OMIM:191900"}
xref: SCTID:402417009 {source="MONDO:kboom-pr-0.88/0.75/0.11", source="MONDO:equivalentTo"}
xref: UMLS:C0268390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191900", source="ORDO:575/e", source="Orphanet:575", source="NCIT:C119054"}
xref: UMLS:C1304205 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0050854", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-associated periodic syndrome
is_a: MONDO:0019724 {source="Orphanet:575"} ! secondary glomerular disease
property_value: exactMatch DOID:0050854
property_value: exactMatch http://identifiers.org/meddra/10064569
property_value: exactMatch http://identifiers.org/omim/191900
property_value: exactMatch http://identifiers.org/snomedct/402417009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304205
property_value: exactMatch NCIT:C119054
property_value: exactMatch Orphanet:575

[Term]
id: MONDO:0008634
name: urticaria, familial localized heat
synonym: "urticaria, familial localized heat" EXACT [OMIM:191950]
xref: MESH:C566011 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:191950 {source="MONDO:equivalentTo"}
xref: UMLS:C1860551 {source="OMIM:191950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005492 ! urticaria (disease)
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C566011
property_value: exactMatch http://identifiers.org/omim/191950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860551

[Term]
id: MONDO:0008635
name: uterine anomalies
synonym: "uterine anomalies" EXACT [OMIM:192000]
xref: MESH:C562565 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266383
property_value: exactMatch http://identifiers.org/mesh/C562565
property_value: exactMatch http://identifiers.org/omim/192000

[Term]
id: MONDO:0008636
name: double uterus-hemivagina-renal agenesis syndrome
def: "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis (see this term) and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." [Orphanet:3411]
subset: ordo_malformation_syndrome {source="Orphanet:3411"}
synonym: "Double uterus and obstructed hemivagina syndrome" EXACT [Orphanet:3411]
synonym: "Herlyn-Werner syndrome" EXACT [Orphanet:3411]
synonym: "obstructed hemivagina and ipsilateral renal anomaly" EXACT [Orphanet:3411]
synonym: "OHVIRA syndrome" EXACT [Orphanet:3411]
synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050]
synonym: "Wunderlich syndrome" EXACT [Orphanet:3411]
xref: MESH:C566010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192050 {source="Orphanet:3411", source="ORDO:3411/e", source="MONDO:equivalentTo"}
xref: Orphanet:3411 {source="MONDO:equivalentTo", source="OMIM:192050"}
xref: SCTID:722431007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.64"}
is_a: MONDO:0015620 {source="Orphanet:3411"} ! syndromic urogenital tract malformation
is_a: MONDO:0015846 {source="Orphanet:3411"} ! syndromic uterovaginal malformation
is_a: MONDO:0019721 {source="Orphanet:3411"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860549
property_value: exactMatch http://identifiers.org/mesh/C566010
property_value: exactMatch http://identifiers.org/omim/192050
property_value: exactMatch http://identifiers.org/snomedct/722431007
property_value: exactMatch Orphanet:3411

[Term]
id: MONDO:0008637
name: bifid uvula
def: "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." [Orphanet:99771]
subset: ordo_morphological_anomaly {source="Orphanet:99771"}
synonym: "bifidity of the uvula" EXACT [Orphanet:99771]
synonym: "uvula, bifid" RELATED [OMIM:192100]
synonym: "uvula, cleft" RELATED [OMIM:192100]
synonym: "uvular cleft" EXACT [Orphanet:99771]
xref: ICD10:Q35.7 {source="ORDO:99771/e", source="Orphanet:99771"}
xref: OMIM:192100 {source="MONDO:equivalentTo"}
xref: Orphanet:99771 {source="MONDO:equivalentTo"}
xref: SCTID:18910001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.05"}
is_a: MONDO:0016064 {source="Orphanet:99771"} ! cleft palate
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266122
property_value: exactMatch http://identifiers.org/omim/192100
property_value: exactMatch http://identifiers.org/snomedct/18910001
property_value: exactMatch Orphanet:99771

[Term]
id: MONDO:0008638
name: varicose disease
def: "A vascular disease characterized by the presence of enlarged and tortuous veins." [HP:0002619, https://en.wikipedia.org/wiki/Varices]
synonym: "varices" EXACT [CSP2005:0571-9214, DOID:799]
synonym: "varices" NARROW [https://en.wikipedia.org/wiki/Varices]
synonym: "varicose vein" EXACT [NCIT:C35114]
synonym: "varicose veins" NARROW [https://en.wikipedia.org/wiki/Varicose_veins]
synonym: "varicose veins" RELATED [OMIM:192200]
synonym: "varix" EXACT [DOID:799, https://en.wikipedia.org/wiki/Varices]
synonym: "Venous ectasia" EXACT [DOID:799]
synonym: "Venous varices" EXACT [DOID:799]
xref: COHD:312349 {source="MONDO:equivalentTo"}
xref: DOID:799 {source="MONDO:equivalentTo"}
xref: ICD10:I83.90 {source="DOID:799"}
xref: ICD9:454.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:456.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014648 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35114 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: OMIM:192200 {source="DOID:799", source="MONDO:equivalentTo"}
xref: SCTID:128060009 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0042345 {source="DOID:799", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:192200"}
is_a: MONDO:0004634 {source="DOID:799", source="linkedlifedata", source="linkedlifedata/inferred"} ! vein disease
property_value: closeMatch http://identifiers.org/snomedct/12856003
property_value: closeMatch http://identifiers.org/snomedct/155468006
property_value: closeMatch http://identifiers.org/snomedct/155482006
property_value: closeMatch http://identifiers.org/snomedct/234053000
property_value: closeMatch http://identifiers.org/snomedct/266331000
property_value: closeMatch http://identifiers.org/snomedct/276504003
property_value: closeMatch http://identifiers.org/snomedct/399989005
property_value: exactMatch DOID:799
property_value: exactMatch http://identifiers.org/mesh/D014648
property_value: exactMatch http://identifiers.org/omim/192200
property_value: exactMatch http://identifiers.org/snomedct/128060009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042345
property_value: exactMatch NCIT:C35114

[Term]
id: MONDO:0008639
name: vascular helix of umbilical cord
synonym: "vascular helix of umbilical cord" EXACT [OMIM:192300]
xref: OMIM:192300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860520
property_value: exactMatch http://identifiers.org/omim/192300

[Term]
id: MONDO:0008640
name: vasculitis, lymphocytic, nodular
def: "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." [GARD:0006941]
subset: gard_rare
synonym: "lymphocytic vasculitis" RELATED [GARD:0006941]
synonym: "vasculitis lymphocytic, nodular" RELATED [GARD:0006941]
synonym: "vasculitis, lymphocytic, nodular" EXACT [OMIM:192310]
xref: GARD:0006941 {source="MONDO:equivalentTo"}
xref: MESH:C566008 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192310 {source="GARD:0006941", source="MONDO:equivalentTo"}
xref: UMLS:C1860519 {source="GARD:0006941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:192310"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018882 ! vasculitis
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C566008
property_value: exactMatch http://identifiers.org/omim/192310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860519
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis xsd:anyURI {source="GARD:0006941"}

[Term]
id: MONDO:0008641
name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
def: "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." [Orphanet:247691]
comment: Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1
subset: gard_rare
subset: ordo_disease {source="Orphanet:247691"}
synonym: "ADRVCL" RELATED [GARD:0001217]
synonym: "autosomal dominant retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217]
synonym: "cerebroretinal vasculopathy" RELATED [Orphanet:3421, PMID:3174024]
synonym: "cerebroretinal vasculopathy, hereditary" RELATED [GARD:0001217, OMIM:192315]
synonym: "CRV" RELATED [GARD:0001217]
synonym: "grand Kaine fulling syndrome" RELATED [GARD:0002558]
synonym: "grand-Kaine-fulling syndrome" RELATED [Orphanet:3421, PMID:3174024]
synonym: "hereditary vascular retinopathy" EXACT [GARD:0010535]
synonym: "HVR" RELATED [GARD:0010535]
synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [Orphanet:247691]
synonym: "retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217]
synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" RELATED [GARD:0001217, OMIM:192315]
synonym: "RVCL" EXACT [GARD:0001217, MONDO:Lexical, OMIM:192315, Orphanet:247691]
synonym: "RVCL-S" EXACT [Orphanet:247691]
synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical, OMIM:192315]
synonym: "vasculopathy, retinal, with cerebral leukodystrophy; RVCL" RELATED [OMIM:192315]
xref: GARD:0001217 {source="MONDO:equivalentTo", source="Orphanet:247691"}
xref: GARD:0002558 {source="Orphanet:3421", source="MONDO:equivalentTo"}
xref: GARD:0010535 {source="MONDO:equivalentTo"}
xref: MESH:C566007 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192315 {source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691", source="ORDO:247691/e"}
xref: Orphanet:247691 {source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217"}
xref: SCTID:720854004 {source="MONDO:equivalentTo"}
xref: SCTID:721141004 {source="MONDO:equivalentTo"}
xref: UMLS:C1860518 {source="NCBI:mim2gene_medline", source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217", source="Orphanet:247691"}
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0002311 {source="linkedlifedata"} ! retinal vascular disease
is_a: MONDO:0015939 {source="Orphanet:247691"} ! systemic autoimmune disease
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0018782 {source="Orphanet:247691"} ! type 1 interferonopathy
is_a: MONDO:0018787 {source="Orphanet:247691"} ! genetic cerebral small vessel disease
is_a: MONDO:0019118 {source="Orphanet:247691"} ! inherited retinal dystrophy
is_a: MONDO:0019723 {source="Orphanet:247691"} ! disease of glomerular basement membrane
is_a: MONDO:0100014 ! autoimmune retinopathy
relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:247691"} ! inherited retinal dystrophy
property_value: closeMatch Orphanet:3421
property_value: closeMatch Orphanet:63261
property_value: closeMatch Orphanet:71291
property_value: exactMatch http://identifiers.org/mesh/C566007
property_value: exactMatch http://identifiers.org/omim/192315
property_value: exactMatch http://identifiers.org/snomedct/720854004
property_value: exactMatch http://identifiers.org/snomedct/721141004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860518
property_value: exactMatch Orphanet:247691
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy xsd:anyURI {source="GARD:0010535"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy xsd:anyURI {source="GARD:0001217"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome xsd:anyURI {source="GARD:0002558"}

[Term]
id: MONDO:0008642
name: VACTERL/vater association
def: "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [Orphanet:887]
subset: ordo_malformation_syndrome {source="Orphanet:887"}
synonym: "VACTERL association" EXACT [MONDO:0002007, Orphanet:887]
synonym: "VATER association" EXACT [Orphanet:887]
synonym: "VATER syndrome" RELATED [DOID:14679]
synonym: "VATER/VACTERL association" RELATED [OMIM:192350]
synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105]
xref: DOID:14679 {source="MONDO:equivalentTo"}
xref: GARD:0005443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="DOID:14679", source="Orphanet:887", source="ORDO:887/inclusion", source="ORDO:887/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053665 {source="ORDO:887/e", source="Orphanet:887"}
xref: MedDRA:10066022 {source="ORDO:887/e", source="Orphanet:887"}
xref: NCIT:C99105 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:192350 {source="DOID:14679", source="ORDO:887/e", source="Orphanet:887", source="MONDO:equivalentTo"}
xref: Orphanet:887 {source="MONDO:equivalentTo", source="OMIM:192350"}
xref: SCTID:27742002 {source="DOID:14679", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0220708 {source="DOID:14679", source="ORDO:887/e", source="Orphanet:887", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="OMIM:192350"}
xref: UMLS:C1735591 {source="ORDO:887/e", source="Orphanet:887", source="MONDO:equivalentTo", source="OMIM:192350", source="NCIT:C99105"}
xref: UMLS:CN206312 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015161 {source="Orphanet:887"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015208 {source="Orphanet:887"} ! syndromic esophageal malformation
is_a: MONDO:0015246 {source="Orphanet:887"} ! syndromic anorectal malformation
is_a: MONDO:0019721 {source="Orphanet:887"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://identifiers.org/snomedct/205830006
property_value: exactMatch DOID:14679
property_value: exactMatch http://identifiers.org/meddra/10053665
property_value: exactMatch http://identifiers.org/meddra/10066022
property_value: exactMatch http://identifiers.org/mesh/C536495
property_value: exactMatch http://identifiers.org/mesh/C536534
property_value: exactMatch http://identifiers.org/omim/192350
property_value: exactMatch http://identifiers.org/snomedct/27742002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1735591
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206312
property_value: exactMatch NCIT:C99105
property_value: exactMatch Orphanet:887

[Term]
id: MONDO:0008643
name: veins, pattern of, on anterior thorax
synonym: "veins, pattern of, on anterior thorax" EXACT [OMIM:192400]
xref: OMIM:192400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860490
property_value: exactMatch http://identifiers.org/omim/192400

[Term]
id: MONDO:0008644
name: velocardiofacial syndrome
def: "A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." [DOID:12583, PMID:PMID%3A+19243607]
synonym: "22q11 deletion syndrome" EXACT [DOID:12583]
synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:192430]
synonym: "deletion 22q11.2 syndrome" EXACT [DOID:12583, MTHICD9_2006:758.32]
synonym: "Shprintzen syndrome" EXACT [DOID:12583, ICD9CM_2006:758.32]
synonym: "Shprintzen Vcf syndrome" RELATED [OMIM:192430]
synonym: "Vcf syndrome" RELATED [OMIM:192430]
synonym: "VCF-velocardiofacial syndrome" EXACT [DOID:12583]
synonym: "velocardiofacial syndrome" EXACT [OMIM:192430]
xref: DOID:12583 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.81 {source="DOID:12583"}
xref: ICD9:758.32 {source="DOID:12583"}
xref: OMIM:192430 {source="MONDO:equivalentTo", source="DOID:12583"}
xref: UMLS:CN205308 {source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DOID:12583"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0018923 {source="ORDO:567/btnt"} ! 22q11.2 deletion syndrome
property_value: closeMatch http://identifiers.org/snomedct/205642004
property_value: closeMatch http://identifiers.org/snomedct/83092002
property_value: exactMatch DOID:12583
property_value: exactMatch http://identifiers.org/omim/192430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205308

[Term]
id: MONDO:0008645
name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
def: "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term)." [Orphanet:3201]
subset: ordo_malformation_syndrome {source="Orphanet:3201"}
synonym: "Stoll-Kieny-Dott syndrome" EXACT [Orphanet:3201]
synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:0005472]
synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472]
synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445]
xref: GARD:0005472 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3201", source="ORDO:3201/attributed", source="ORDO:3201/ntbt"}
xref: MESH:C537497 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192445 {source="ORDO:3201/e", source="Orphanet:3201", source="MONDO:equivalentTo"}
xref: Orphanet:3201 {source="OMIM:192445", source="MONDO:equivalentTo"}
xref: SCTID:719823007 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:3201"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3201"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860471
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931232
property_value: exactMatch http://identifiers.org/mesh/C537497
property_value: exactMatch http://identifiers.org/omim/192445
property_value: exactMatch http://identifiers.org/snomedct/719823007
property_value: exactMatch Orphanet:3201

[Term]
id: MONDO:0008646
name: long QT syndrome 1
def: "Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia)." [Orphanet:101016]
subset: clingen
subset: ordo_clinical_subtype {source="Orphanet:101016"}
subset: prototype_pattern
synonym: "long QT syndrome 1" EXACT [MONDO:Lexical, OMIM:192500]
synonym: "long QT syndrome 1, acquired, susceptibility to" RELATED [OMIM:192500]
synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:192500]
synonym: "long QT syndrome 1; LQT1" RELATED [OMIM:192500]
synonym: "long QT syndrome type 1" EXACT [DOID:0110644, MONDORULE:1, OMIM:192500]
synonym: "LQT1" EXACT [DOID:0110644, MONDO:Lexical, OMIM:192500]
synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016]
synonym: "Romano-Ward syndrome" RELATED [OMIM:192500]
synonym: "ventricular fibrillation with prolonged QT interval" EXACT [DOID:0110644, OMIM:192500]
synonym: "Ward-Romano syndrome" RELATED [OMIM:192500]
xref: DOID:0110644 {source="MONDO:equivalentTo"}
xref: GARD:0003284 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I45.8 {source="DOID:0110644", source="Orphanet:101016", source="ORDO:101016/attributed", source="ORDO:101016/ntbt"}
xref: MedDRA:10039211 {source="Orphanet:101016", source="ORDO:101016/e"}
xref: NCIT:C85049 {source="MONDO:kboom-pr-0.97/0.80/2.55", source="MONDO:equivalentTo"}
xref: OMIM:192500 {source="DOID:0110644", source="Orphanet:101016", source="ORDO:101016/e", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:192500", source="MONDO:equivalentTo"}
xref: SCTID:20852007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
xref: UMLS:C0035828 {source="OMIM:192500", source="Orphanet:101016", source="NCBI:mim2gene_medline", source="ORDO:101016/e", source="MONDO:equivalentTo", source="NCIT:C85049"}
is_a: MONDO:0019171 {source="OMIM:192500", source="Orphanet:101016", source="linkedlifedata", source="linkedlifedata/inferred"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843738
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277700
property_value: exactMatch DOID:0110644
property_value: exactMatch http://identifiers.org/meddra/10039211
property_value: exactMatch http://identifiers.org/mesh/D029597
property_value: exactMatch http://identifiers.org/omim/192500
property_value: exactMatch http://identifiers.org/snomedct/20852007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035828
property_value: exactMatch NCIT:C85049
property_value: exactMatch Orphanet:101016

[Term]
id: MONDO:0008647
name: hypertrophic cardiomyopathy 1
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:design_pattern]
synonym: "asymmetric septal Hypertrophy" RELATED [OMIM:192600]
synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [DOID:0110307]
synonym: "cardiomyopathy, familial hypertrophic, 1" RELATED [MONDO:Lexical, OMIM:192600]
synonym: "cardiomyopathy, familial hypertrophic, 1; CMH1" RELATED [OMIM:192600]
synonym: "cardiomyopathy, familial hypertrophic, type 1" EXACT [MONDORULE:1, OMIM:192600]
synonym: "Cmh" RELATED [OMIM:192600]
synonym: "CMH1" EXACT [DOID:0110307, MONDO:Lexical, OMIM:192600]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 1" EXACT [DOID:0110307, MONDORULE:1]
synonym: "hypertrophic subaortic stenosis, idiopathic" RELATED [OMIM:192600]
synonym: "MYH7 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular Hypertrophy, hereditary" RELATED [OMIM:192600]
xref: DOID:0110307 {source="MONDO:equivalentTo"}
xref: OMIM:192600 {source="DOID:0110307", source="MONDO:equivalentTo"}
is_a: MONDO:0020484 ! rare familial disorder with hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:Redundant", source="OMIM", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205700
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495498
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110307
property_value: exactMatch http://identifiers.org/omim/192600

[Term]
id: MONDO:0008648
name: ventricular tachycardia, familial
def: "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "familial ventricular tachycardia" RELATED [GARD:0002263]
synonym: "hereditary ventricular tachycardia" EXACT [MONDO:patterns/hereditary]
synonym: "ventricular tachycardia, familial" EXACT [OMIM:192605]
synonym: "ventricular tachycardia, familial polymorphic" RELATED [OMIM:192605]
xref: GARD:0002263 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:192605 {source="MONDO:equivalentTo"}
xref: SCTID:233906007 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0005477 {source="MONDO:Redundant", source="OMIM:192605", source="OWLReasoner:2017", source="linkedlifedata"} ! ventricular tachycardia
is_a: MONDO:0015110 ! genetic cardiac rhythm disease
intersection_of: MONDO:0005477 ! ventricular tachycardia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340485
property_value: exactMatch http://identifiers.org/omim/192605
property_value: exactMatch http://identifiers.org/snomedct/233906007

[Term]
id: MONDO:0008649
name: venular insufficiency, systemic
synonym: "venular insufficiency, systemic" EXACT [OMIM:192700]
xref: MESH:C566004 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192700 {source="MONDO:equivalentTo"}
xref: UMLS:C1860465 {source="NCBI:mim2gene_medline", source="OMIM:192700", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566004
property_value: exactMatch http://identifiers.org/omim/192700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860465

[Term]
id: MONDO:0008650
name: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
def: "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." [Orphanet:2064]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2064"}
synonym: "congenital ptosis and posterior fusion of lumbosacral vertebrae" RELATED [GARD:0005487]
synonym: "familial posterior lumbosacral vertebral fusion and eyelid ptosis" RELATED [GARD:0005487]
synonym: "Faulk Epstein Jones syndrome" RELATED [GARD:0002276]
synonym: "Faulk-Epstein-Jones syndrome" EXACT [Orphanet:2064]
synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0005487]
synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800]
xref: GARD:0002276 {source="MONDO:equivalentTo"}
xref: GARD:0005487 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:2064/attributed", source="ORDO:2064/ntbt", source="Orphanet:2064"}
xref: MESH:C536344 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2064/e", source="Orphanet:2064"}
xref: OMIM:192800 {source="GARD:0002276", source="MONDO:equivalentTo", source="ORDO:2064/e", source="Orphanet:2064"}
xref: Orphanet:2064 {source="OMIM:192800", source="MONDO:equivalentTo"}
xref: SCTID:724064004 {source="MONDO:equivalentTo"}
xref: UMLS:C1860464 {source="OMIM:192800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:2064/e", source="Orphanet:2064"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0008650"} ! syndromic disease
is_a: MONDO:0043008 {source="Orphanet:2064"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch Orphanet:1983
property_value: exactMatch http://identifiers.org/mesh/C536344
property_value: exactMatch http://identifiers.org/omim/192800
property_value: exactMatch http://identifiers.org/snomedct/724064004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860464
property_value: exactMatch Orphanet:2064
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome xsd:anyURI {source="GARD:0002276"}

[Term]
id: MONDO:0008651
name: vertebral hypoplasia with lumbar kyphosis
synonym: "vertebral hypoplasia with lumbar kyphosis" EXACT [OMIM:192900]
xref: MESH:C566002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192900 {source="MONDO:equivalentTo"}
xref: UMLS:C1860463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:192900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566002
property_value: exactMatch http://identifiers.org/omim/192900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860463

[Term]
id: MONDO:0008652
name: congenital vertical talus
def: "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." [Orphanet:178382]
subset: gard_rare {source="GARD:0005488"}
subset: ordo_morphological_anomaly {source="Orphanet:178382"}
synonym: "congenital convex foot" EXACT [Orphanet:178382]
synonym: "congenital convex pes valgus" EXACT [Orphanet:178382]
synonym: "congenital rocker-bottom foot" EXACT [Orphanet:178382]
synonym: "CVT" RELATED [MONDO:Lexical, OMIM:192950]
synonym: "pes valgus, congenital convex" RELATED [OMIM:192950]
synonym: "rocker bottom foot" RELATED [GARD:0005488]
synonym: "rocker-bottom foot" RELATED [OMIM:192950]
synonym: "rocker-bottom foot deformity" RELATED [GARD:0005488]
synonym: "vertical talus" RELATED [GARD:0005488]
synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950]
synonym: "vertical talus, congenital; CVT" RELATED [OMIM:192950]
xref: GARD:0005488 {source="MONDO:equivalentTo"}
xref: ICD10:Q66.8 {source="ORDO:178382/inclusion", source="Orphanet:178382", source="ORDO:178382/ntbt"}
xref: ICD9:755.67 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066242 {source="Orphanet:178382", source="ORDO:178382/e"}
xref: MESH:C536345 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:192950 {source="MONDO:equivalentTo", source="Orphanet:178382", source="ORDO:178382/e"}
xref: Orphanet:178382 {source="OMIM:192950", source="MONDO:equivalentTo"}
xref: SCTID:205082007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.21"}
is_a: MONDO:0017427 {source="Orphanet:178382"} ! congenital deformities of limbs
property_value: exactMatch http://identifiers.org/meddra/10066242
property_value: exactMatch http://identifiers.org/mesh/C536345
property_value: exactMatch http://identifiers.org/omim/192950
property_value: exactMatch http://identifiers.org/snomedct/205082007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0240912
property_value: exactMatch Orphanet:178382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus xsd:anyURI {source="GARD:0005488"}

[Term]
id: MONDO:0008653
name: VUR1
synonym: "vesicoureteral reflux 1" RELATED [MONDO:Lexical, OMIM:193000]
synonym: "vesicoureteral reflux 1; VUR1" RELATED [OMIM:193000]
synonym: "VUR" RELATED [OMIM:193000]
synonym: "VUR1" EXACT [MONDO:Lexical, OMIM:193000]
xref: OMIM:193000 {source="MONDO:equivalentTo"}
xref: UMLS:CN032731 {source="MONDO:equivalentTo"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="MONDO:cjm"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/193000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032731

[Term]
id: MONDO:0008654
name: NYS4
synonym: "NYS4" EXACT [MONDO:Lexical, OMIM:193003]
synonym: "NYSTAGMUS 4, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:193003]
synonym: "NYSTAGMUS 4, congenital, autosomal dominant; NYS4" RELATED [OMIM:193003]
synonym: "vestibulocerebellar disorder with predominant ocular signs" RELATED [OMIM:193003]
xref: GARD:0009603 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537856 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005712 {source="DC-OMIM:193003", source="MESH:C537856", source="OMIM:193003"} ! congenital nystagmus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860433
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C537856
property_value: exactMatch http://identifiers.org/omim/193003

[Term]
id: MONDO:0008655
name: vestibulocochlear dysfunction, progressive
subset: gard_rare {source="GARD:0005489"}
synonym: "familial progressive vestibulocochlear dysfunction" RELATED [GARD:0005489]
synonym: "vestibulocochlear dysfunction, progressive" EXACT [OMIM:193005]
xref: GARD:0005489 {source="MONDO:equivalentTo"}
xref: MESH:C536346 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931176 {source="OMIM:193005", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860432
property_value: closeMatch Orphanet:1767
property_value: exactMatch http://identifiers.org/mesh/C536346
property_value: exactMatch http://identifiers.org/omim/193005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931176
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive xsd:anyURI {source="GARD:0005489"}

[Term]
id: MONDO:0008656
name: benign paroxysmal positional nystagmus
def: "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed." [MESH:D065635]
synonym: "benign paroxysmal positional vertigo" EXACT [DOID:13941, ICD9CM_2006:386.11]
synonym: "BPPV" RELATED [GARD:0005915]
synonym: "BRV" RELATED [MONDO:Lexical, OMIM:193007]
synonym: "familial benign recurrent vertigo" RELATED [GARD:0005915]
synonym: "familial vestibulopathy" RELATED [GARD:0005915]
synonym: "vertigo, benign paroxysmal positional" RELATED [OMIM:193007]
synonym: "vertigo, benign recurrent" RELATED [MONDO:Lexical, OMIM:193007]
synonym: "vertigo, benign recurrent, 1" RELATED [OMIM:193007]
synonym: "vertigo, benign recurrent; BRV" RELATED [OMIM:193007]
synonym: "vestibulopathy, familial" RELATED [OMIM:193007]
xref: COHD:81878 {source="MONDO:equivalentTo"}
xref: DOID:13941 {source="MONDO:equivalentTo"}
xref: GARD:0005915 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:386.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:13941"}
xref: OMIM:193007 {source="MONDO:equivalentTo", source="DOID:13941"}
xref: SCTID:111541001 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo", source="DOID:13941"}
xref: UMLS:C0155502 {source="MEDGEN:kboom-pr98-c99", source="OMIM:193007", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13941"}
is_a: MONDO:0004900 {source="DOID:13941", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral vertigo
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch http://identifiers.org/mesh/D065635
property_value: closeMatch http://identifiers.org/snomedct/232285008
property_value: closeMatch http://identifiers.org/snomedct/267763004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749845
property_value: exactMatch DOID:13941
property_value: exactMatch http://identifiers.org/omim/193007
property_value: exactMatch http://identifiers.org/snomedct/111541001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155502

[Term]
id: MONDO:0008657
name: vibratory angioedema
def: "Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening." [Orphanet:493348]
comment: Editor note: OMIM moved to OMIM:125630
subset: ordo_disease
synonym: "angioedema, vibratory" RELATED [OMIM:193050]
synonym: "moved to 125630" RELATED [OMIM:193050]
synonym: "vibratory angioedema" EXACT [MONDO:0024254, OMIM:193050]
xref: ICD9:995.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536347 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193050 {source="MONDO:equivalentTo"}
xref: Orphanet:493348 {source="MONDO:equivalentTo"}
xref: SCTID:238694002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0473546 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:193050"}
is_a: MONDO:0005492 {source="Orphanet:493348"} ! urticaria (disease)
is_a: MONDO:0024255 ! genetic skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536347
property_value: exactMatch http://identifiers.org/omim/193050
property_value: exactMatch http://identifiers.org/snomedct/238694002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473546
property_value: exactMatch Orphanet:493348

[Term]
id: MONDO:0008658
name: virus Rd114 RNA Complementarity
synonym: "virus Rd114 RNA Complementarity" EXACT [OMIM:193070]
xref: OMIM:193070 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860423
property_value: exactMatch http://identifiers.org/omim/193070

[Term]
id: MONDO:0008659
name: transcobalamin i deficiency
subset: gard_rare {source="GARD:0005239"}
subset: ordo_disease {source="Orphanet:2967"}
synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [OMIM:193090]
synonym: "cobalamin R Binder Protein deficiency" RELATED [OMIM:193090]
synonym: "Haptocorrin deficiency" EXACT [Orphanet:2967]
synonym: "R Binder deficiency with lactoferrin deficiency" RELATED [OMIM:193090]
synonym: "TCI deficiency" EXACT [Orphanet:2967]
synonym: "Tcn1 deficiency" RELATED [OMIM:193090]
synonym: "transcobalamin 1 deficiency" RELATED [GARD:0005239]
synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM:193090]
synonym: "transcobalamin i deficiency" EXACT [OMIM:193090]
synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967]
xref: GARD:0005239 {source="MONDO:equivalentTo"}
xref: ICD10:E53.8 {source="ORDO:2967/attributed", source="ORDO:2967/ntbt", source="Orphanet:2967"}
xref: MESH:C562798 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193090 {source="MONDO:equivalentTo", source="ORDO:2967/e", source="Orphanet:2967"}
xref: Orphanet:2967 {source="OMIM:193090", source="MONDO:equivalentTo"}
xref: SCTID:237933007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342700 {source="OMIM:193090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2967"}
is_a: MONDO:0019220 {source="Orphanet:2967"} ! inborn disorder of cobalamin metabolism and transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674026
property_value: exactMatch http://identifiers.org/mesh/C562798
property_value: exactMatch http://identifiers.org/omim/193090
property_value: exactMatch http://identifiers.org/snomedct/237933007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342700
property_value: exactMatch Orphanet:2967
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency xsd:anyURI {source="GARD:0005239"}

[Term]
id: MONDO:0008660
name: autosomal dominant hypophosphatemic rickets
def: "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." [Orphanet:89937]
subset: ordo_disease {source="Orphanet:89937"}
synonym: "ADHR" EXACT [MONDO:Lexical, OMIM:193100, Orphanet:89937]
synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hypophosphatemia" EXACT [Orphanet:89937]
synonym: "hereditary hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100]
synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100]
synonym: "hypophosphatemic rickets, autosomal dominant; ADHR" RELATED [OMIM:193100]
synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100]
xref: DOID:0050948 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:89937/attributed", source="ORDO:89937/ntbt", source="Orphanet:89937"}
xref: MESH:C562791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193100 {source="ORDO:89937/e", source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948"}
xref: Orphanet:89937 {source="MONDO:equivalentTo", source="OMIM:193100"}
xref: SCTID:237889002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0342642 {source="MEDGEN:kboom-pr98-c99", source="ORDO:89937/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:89937", source="OMIM:193100"}
is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Redundant", source="MONDOLEX:0008660", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal dominant disease
property_value: exactMatch DOID:0050948
property_value: exactMatch http://identifiers.org/mesh/C562791
property_value: exactMatch http://identifiers.org/omim/193100
property_value: exactMatch http://identifiers.org/snomedct/237889002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342642
property_value: exactMatch Orphanet:89937

[Term]
id: MONDO:0008661
name: vitiligo
def: "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." [NCIT:P378]
synonym: "VAMAS6" RELATED [MONDO:Lexical, OMIM:193200]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 6" RELATED [MONDO:Lexical, OMIM:193200]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 6; VAMAS6" RELATED [OMIM:193200]
xref: COHD:138502 {source="MONDO:equivalentTo"}
xref: DOID:12306 {source="MONDO:equivalentTo", source="EFO:0004208"}
xref: EFO:0004208 {source="DOID:12306", source="MONDO:equivalentTo"}
xref: ICD10:L80 {source="DOID:12306", source="MONDO:equivalentTo"}
xref: ICD9:709.01 {source="DOID:12306", source="EFO:0004208"}
xref: MESH:D014820 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"}
xref: NCIT:C26915 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"}
xref: OMIM:193200 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"}
xref: UMLS:C0042900 {source="DOID:12306", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C26915"}
is_a: MONDO:0002406 {source="NCIT:C26915"} ! dermatitis
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
property_value: closeMatch http://identifiers.org/snomedct/156437000
property_value: closeMatch http://identifiers.org/snomedct/56727007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277701
property_value: exactMatch DOID:12306
property_value: exactMatch http://identifiers.org/mesh/D014820
property_value: exactMatch http://identifiers.org/omim/193200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042900
property_value: exactMatch NCIT:C26915

[Term]
id: MONDO:0008662
name: autosomal dominant vitreoretinochoroidopathy
def: "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." [Orphanet:3086]
subset: ordo_disease {source="Orphanet:3086"}
synonym: "ADVIRC" EXACT [Orphanet:3086]
synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy" RELATED [MONDO:Lexical, OMIM:193220]
synonym: "vitreoretinochoroidopathy dominant" RELATED [GARD:0005507]
synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy, autosomal dominant" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy; VRCP" RELATED [OMIM:193220]
synonym: "VRCP" RELATED [MONDO:Lexical, OMIM:193220]
synonym: "VRCP autosomal dominant" RELATED [GARD:0005507]
xref: GARD:0005507 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086", source="ORDO:3086/attributed", source="ORDO:3086/ntbt"}
xref: MESH:C536352 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3086", source="ORDO:3086/e"}
xref: OMIM:193220 {source="MONDO:equivalentTo", source="Orphanet:3086", source="ORDO:3086/e"}
xref: Orphanet:3086 {source="MONDO:equivalentTo", source="OMIM:193220"}
xref: SCTID:711162004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3888099 {source="MONDO:equivalentTo", source="Orphanet:3086"}
is_a: MONDO:0020248 {source="Orphanet:3086"} ! vitreoretinal degeneration
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860406
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674009
property_value: exactMatch http://identifiers.org/mesh/C536352
property_value: exactMatch http://identifiers.org/omim/193220
property_value: exactMatch http://identifiers.org/snomedct/711162004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888099
property_value: exactMatch Orphanet:3086

[Term]
id: MONDO:0008663
name: snowflake vitreoretinal degeneration
def: "Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36." [Orphanet:91496]
subset: gard_rare {source="GARD:0009706"}
subset: ordo_disease {source="Orphanet:91496"}
synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" RELATED [GARD:0009706]
synonym: "snowflake vitreoretinal degeneration" EXACT [OMIM:193230]
synonym: "SVD" RELATED [MONDO:Lexical, OMIM:193230]
synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230]
synonym: "vitreoretinal degeneration, snowflake type; SVD" RELATED [OMIM:193230]
xref: GARD:0009706 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:91496", source="ORDO:91496/attributed", source="ORDO:91496/ntbt"}
xref: MESH:C536677 {source="ORDO:91496/e", source="Orphanet:91496", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193230 {source="ORDO:91496/e", source="Orphanet:91496", source="MONDO:equivalentTo"}
xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"}
xref: UMLS:C1860405 {source="ORDO:91496/e", source="Orphanet:91496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:193230"}
is_a: MONDO:0020248 {source="Orphanet:91496"} ! vitreoretinal degeneration
property_value: exactMatch http://identifiers.org/mesh/C536677
property_value: exactMatch http://identifiers.org/omim/193230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860405
property_value: exactMatch Orphanet:91496
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration xsd:anyURI {source="GARD:0009706"}

[Term]
id: MONDO:0008664
name: autosomal dominant neovascular inflammatory vitreoretinopathy
def: "Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness." [Orphanet:329211]
subset: ordo_disease {source="Orphanet:329211"}
synonym: "ADNIV" EXACT [Orphanet:329211]
synonym: "proliferative vitreoretinopathy" RELATED [OMIM:193235]
synonym: "vitreoretinopathy, neovascular inflammatory" RELATED [MONDO:Lexical, OMIM:193235]
synonym: "vitreoretinopathy, neovascular inflammatory, autosomal dominant" RELATED [OMIM:193235]
synonym: "vitreoretinopathy, neovascular inflammatory; VRNI" RELATED [OMIM:193235]
synonym: "VRNI" RELATED [MONDO:Lexical, OMIM:193235]
xref: ICD10:H35.2 {source="ORDO:329211/attributed", source="ORDO:329211/ntbt", source="Orphanet:329211"}
xref: ICD9:362.29 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:193235 {source="MONDO:equivalentTo", source="ORDO:329211/e", source="Orphanet:329211"}
xref: Orphanet:329211 {source="OMIM:193235", source="MONDO:equivalentTo"}
xref: SCTID:232016005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.12"}
is_a: MONDO:0020248 {source="Orphanet:329211"} ! vitreoretinal degeneration
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860404
property_value: exactMatch http://identifiers.org/omim/193235
property_value: exactMatch http://identifiers.org/snomedct/232016005
property_value: exactMatch Orphanet:329211

[Term]
id: MONDO:0008665
name: ptosis-vocal cord paralysis syndrome
def: "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." [Orphanet:2997]
subset: ordo_malformation_syndrome {source="Orphanet:2997"}
synonym: "congenital bilateral recurrent nerve paralysis and ptosis" RELATED [GARD:0000427]
synonym: "ptosis vocal cord paralysis" RELATED [GARD:0000427]
synonym: "tucker syndrome" EXACT [Orphanet:2997]
synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240]
xref: GARD:0000427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536923 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="ORDO:2997/e"}
xref: Orphanet:2997 {source="MONDO:equivalentTo", source="OMIM:193240"}
xref: UMLS:C1860403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2997", source="MEDGEN:kboom-pr92-c96", source="OMIM:193240"}
is_a: MONDO:0020169 {source="Orphanet:2997"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/C536923
property_value: exactMatch http://identifiers.org/omim/193240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860403
property_value: exactMatch Orphanet:2997

[Term]
id: MONDO:0008666
name: volvulus of midgut
def: "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." [NCIT:C98961]
synonym: "congenital malrotation of intestine" EXACT [NCIT:C98961]
synonym: "intestinal malrotation" EXACT [NCIT:C98961]
synonym: "intestinal malrotation, familial" RELATED [OMIM:193250]
synonym: "volvulus of midgut" EXACT [OMIM:193250]
xref: MESH:C562456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98961 {source="MONDO:equivalentTo"}
xref: OMIM:193250 {source="MONDO:equivalentTo"}
xref: SCTID:458422009 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221210
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345255
property_value: exactMatch http://identifiers.org/mesh/C562456
property_value: exactMatch http://identifiers.org/omim/193250
property_value: exactMatch http://identifiers.org/snomedct/458422009
property_value: exactMatch NCIT:C98961

[Term]
id: MONDO:0008667
name: von Hippel-Lindau disease
def: "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." [Orphanet:892]
subset: clingen
subset: gard_rare {source="GARD:0007855"}
subset: ordo_disease {source="Orphanet:892"}
synonym: "cerebroretinal angiomatosis" EXACT [NCIT:C3105]
synonym: "familial cerebelloretinal angiomatosis" EXACT [Orphanet:892]
synonym: "Hippel Lindau syndrome" EXACT [CSP2005:5000-0055, DOID:14175]
synonym: "Lindau disease" EXACT [Orphanet:892]
synonym: "VHL" EXACT [MONDO:Lexical, OMIM:193300, Orphanet:892]
synonym: "VHL syndrome" RELATED [GARD:0007855]
synonym: "Von Hippel Lindau disease" RELATED [GARD:0007855]
synonym: "VON Hippel-Lindau syndrome" RELATED [MONDO:Lexical, OMIM:193300]
synonym: "Von Hippel-Lindau syndrome" EXACT [Orphanet:892]
synonym: "von Hippel-Lindau syndrome" EXACT [DOID:14175, MTHICD9_2006:759.6]
synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [DOID:14175, NCIT:C3105]
synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300]
synonym: "VON Hippel-Lindau syndrome; VHL" RELATED [OMIM:193300]
xref: DOID:14175 {source="MONDO:equivalentTo"}
xref: GARD:0007855 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="ORDO:892/inclusion", source="ORDO:892/ntbt", source="DOID:14175", source="Orphanet:892"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10047716 {source="ORDO:892/e", source="Orphanet:892"}
xref: MESH:D006623 {source="DOID:14175", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:892/e", source="Orphanet:892"}
xref: NCIT:C3105 {source="MONDO:kboom-pr-0.88/0.74/0.14", source="DOID:14175", source="MONDO:equivalentTo"}
xref: OMIM:193300 {source="DOID:14175", source="MONDO:equivalentTo", source="ORDO:892/e", source="Orphanet:892"}
xref: Orphanet:892 {source="MONDO:equivalentTo", source="OMIM:193300"}
xref: SCTID:46659004 {source="DOID:14175", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0019562 {source="NCBI:mim2gene_medline", source="DOID:14175", source="MONDO:equivalentTo", source="NCIT:C3105", source="ORDO:892/e", source="Orphanet:892", source="OMIM:193300"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015079 {source="Orphanet:892"} ! multiple polyglandular tumor
is_a: MONDO:0015218 {source="Orphanet:892"} ! syndromic developmental defect of the eye
is_a: MONDO:0015953 {source="Orphanet:892"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0016756 {source="Orphanet:892"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0017891 {source="Orphanet:892"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0019116 {source="Orphanet:892"} ! catecholamine-producing tumor
is_a: MONDO:0019741 {source="Orphanet:892"} ! familial cystic renal disease
is_a: MONDO:0020063 {source="Orphanet:892"} ! malformation syndrome with hamartosis
is_a: MONDO:0020222 {source="Orphanet:892"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0021220 ! eye neoplasm
is_a: MONDO:0021248 ! nervous system neoplasm
is_a: MONDO:0042983 {source="MESH:D006623", source="NCIT:C3105", source="https://en.wikipedia.org/wiki/Phakomatosis", source="linkedlifedata"} ! neurocutaneous syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674004
property_value: exactMatch DOID:14175
property_value: exactMatch http://identifiers.org/meddra/10047716
property_value: exactMatch http://identifiers.org/mesh/D006623
property_value: exactMatch http://identifiers.org/omim/193300
property_value: exactMatch http://identifiers.org/snomedct/46659004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019562
property_value: exactMatch NCIT:C3105
property_value: exactMatch Orphanet:892
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease xsd:anyURI {source="GARD:0007855"}

[Term]
id: MONDO:0008668
name: von Willebrand disease 1
def: "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166078]
subset: ordo_clinical_subtype {source="Orphanet:166078"}
synonym: "von Willebrand disease type 1" EXACT [DOID:0060573]
synonym: "von Willebrand disease type I" EXACT [DOID:0060573]
synonym: "VON WILLEBRAND disease, type 1" RELATED [MONDO:Lexical, OMIM:193400]
synonym: "Von Willebrand disease, type 1" RELATED [OMIM:193400]
synonym: "VON WILLEBRAND disease, type 1; VWD1" RELATED [OMIM:193400]
synonym: "von willebrand's disease 1" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 1" EXACT [DOID:0060573, MONDORULE:1]
synonym: "VWD type 1" EXACT [DOID:0060573]
synonym: "VWD, type 1" RELATED [OMIM:193400]
synonym: "VWD1" EXACT [DOID:0060573, MONDO:Lexical, OMIM:193400]
xref: DOID:0060573 {source="MONDO:equivalentTo"}
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="DOID:0060573", source="Orphanet:166078", source="ORDO:166078/attributed", source="ORDO:166078/ntbt"}
xref: MESH:D056725 {source="ORDO:166078/e", source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131685 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99"}
xref: OMIM:193400 {source="ORDO:166078/e", source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo"}
xref: Orphanet:166078 {source="OMIM:193400", source="MONDO:equivalentTo"}
xref: SCTID:128106003 {source="MONDO:equivalentTo"}
xref: UMLS:C1264039 {source="ORDO:166078/e", source="OMIM:193400", source="DOID:0060573", source="Orphanet:166078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131685"}
is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="MONDOLEX:0008668", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease
property_value: exactMatch DOID:0060573
property_value: exactMatch http://identifiers.org/mesh/D056725
property_value: exactMatch http://identifiers.org/omim/193400
property_value: exactMatch http://identifiers.org/snomedct/128106003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264039
property_value: exactMatch NCIT:C131685
property_value: exactMatch Orphanet:166078

[Term]
id: MONDO:0008669
name: vulvovaginitis, allergic seminal
synonym: "vulvovaginitis, allergic seminal" EXACT [OMIM:193450]
xref: MESH:C565993 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:193450 {source="MONDO:equivalentTo"}
xref: UMLS:C1860357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:193450"}
is_a: MONDO:0007019 ! vulvovaginitis
property_value: exactMatch http://identifiers.org/mesh/C565993
property_value: exactMatch http://identifiers.org/omim/193450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860357

[Term]
id: MONDO:0008670
name: Waardenburg syndrome type 1
def: "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." [Orphanet:894]
subset: gard_rare {source="GARD:0005519"}
subset: ordo_clinical_subtype {source="Orphanet:894"}
synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, Orphanet:894]
synonym: "Waardenburg syndrome with dystopia canthorum" RELATED [OMIM:193500]
synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical, OMIM:193500]
synonym: "Waardenburg syndrome, type 1; WS1" RELATED [OMIM:193500]
synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519]
synonym: "WS1" EXACT [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894]
xref: DOID:0110948 {source="MONDO:equivalentTo"}
xref: GARD:0005519 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="DOID:0110948", source="ORDO:894/attributed", source="ORDO:894/ntbt", source="Orphanet:894"}
xref: NCIT:C75008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:193500 {source="MONDO:equivalentTo", source="DOID:0110948", source="ORDO:894/e", source="Orphanet:894"}
xref: Orphanet:894 {source="OMIM:193500", source="MONDO:equivalentTo", source="DOID:0110948"}
xref: UMLS:C1847800 {source="OMIM:193500", source="NCIT:C75008", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110948", source="ORDO:894/e", source="Orphanet:894"}
is_a: MONDO:0018094 {source="DC-OMIM:193500", source="DOID:0110948", source="NCIT:C75008", source="OMIM:193500", source="Orphanet:894"} ! Waardenburg syndrome
property_value: exactMatch DOID:0110948
property_value: exactMatch http://identifiers.org/omim/193500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847800
property_value: exactMatch NCIT:C75008
property_value: exactMatch Orphanet:894
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 xsd:anyURI {source="GARD:0005519"}

[Term]
id: MONDO:0008671
name: Waardenburg syndrome type 2A
def: "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." [NCIT:C75011]
subset: gard_rare {source="GARD:0005521"}
synonym: "MITF Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in MITF" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type IIA" EXACT [DOID:0110950]
synonym: "Waardenburg syndrome without dystopia canthorum" RELATED [OMIM:193510]
synonym: "Waardenburg syndrome, type 2A" RELATED [MONDO:Lexical, OMIM:193510]
synonym: "Waardenburg syndrome, type 2A; WS2A" RELATED [OMIM:193510]
synonym: "Ws2" RELATED [OMIM:193510]
synonym: "WS2A" EXACT [DOID:0110950, MONDO:Lexical, OMIM:193510]
xref: DOID:0110950 {source="MONDO:equivalentTo"}
xref: GARD:0005521 {source="MONDO:equivalentTo"}
xref: MESH:C536464 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75011 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:193510 {source="MONDO:equivalentTo", source="DOID:0110950"}
is_a: MONDO:0019517 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0008671", source="NCIT:C75011"} ! Waardenburg syndrome type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860339
property_value: exactMatch DOID:0110950
property_value: exactMatch http://identifiers.org/mesh/C536464
property_value: exactMatch http://identifiers.org/omim/193510
property_value: exactMatch NCIT:C75011
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a xsd:anyURI {source="GARD:0005521"}

[Term]
id: MONDO:0008672
name: Watson syndrome
def: "Watson syndrome is believed to be a variant of neurofibromatosis type 1 . The symptoms of this condition are pulmonary valvular stenosis , cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." [https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome]
subset: gard_rare {source="GARD:0005540"}
synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [OMIM:193520]
synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520]
synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520]
synonym: "Watson syndrome; WTSN" RELATED [OMIM:193520]
synonym: "WTSN" RELATED [MONDO:Lexical, OMIM:193520]
xref: GARD:0005540 {source="MONDO:equivalentTo"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:193520 {source="MONDO:equivalentTo"}
xref: Orphanet:3444 {source="MONDO:obsoleteEquivalent", source="OMIM:193520"}
xref: SCTID:403820003 {source="MONDO:kboom-pr-0.80/0.42/0.91", source="MONDO:equivalentTo"}
xref: UMLS:CN204429 {source="MONDO:equivalentTo"}
is_a: MONDO:0011035 ! neurofibromatosis-Noonan syndrome
property_value: exactMatch http://identifiers.org/omim/193520
property_value: exactMatch http://identifiers.org/snomedct/403820003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204429
property_value: exactMatch Orphanet:3444
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome xsd:anyURI {source="GARD:0005540"}

[Term]
id: MONDO:0008673
name: acrofacial dysostosis, Weyers type
def: "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." [Orphanet:952]
subset: ordo_malformation_syndrome {source="Orphanet:952"}
synonym: "acrodental dysostosis of Weyers" RELATED [OMIM:193530]
synonym: "acrofacial dysostosis of Weyers" RELATED [GARD:0000497]
synonym: "curry Hall syndrome" RELATED [GARD:0000497]
synonym: "curry-Hall syndrome" EXACT [OMIM:193530, Orphanet:952]
synonym: "wad" RELATED [MONDO:Lexical, OMIM:193530]
synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952]
synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952]
synonym: "Weyers acrofacial dysostosis; wad" RELATED [OMIM:193530]
xref: GARD:0000497 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.4 {source="Orphanet:952", source="ORDO:952/attributed", source="ORDO:952/ntbt"}
xref: ICD9:520.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:952/e"}
xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="ORDO:952/e"}
xref: Orphanet:952 {source="MONDO:equivalentTo", source="OMIM:193530"}
xref: SCTID:277807007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0457013 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:952", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:952/e", source="OMIM:193530"}
is_a: MONDO:0015334 {source="Orphanet:952"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis
is_a: MONDO:0019287 {source="Orphanet:952", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:952"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536695
property_value: exactMatch http://identifiers.org/omim/193530
property_value: exactMatch http://identifiers.org/snomedct/277807007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457013
property_value: exactMatch Orphanet:952

[Term]
id: MONDO:0008674
name: WHIM syndrome
def: "WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." [Orphanet:51636]
subset: gard_rare {source="GARD:0009297"}
subset: ordo_disease {source="Orphanet:51636"}
synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [DOID:0060591]
synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" RELATED [OMIM:193670]
synonym: "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT [DOID:0060591, Orphanet:51636]
synonym: "Warts-infections-leukopenia-myelokatexis syndrome" EXACT [Orphanet:51636]
synonym: "WHIM syndrome" EXACT [MONDO:Lexical, OMIM:193670]
synonym: "WHIM syndrome; WHIMS" RELATED [OMIM:193670]
synonym: "WHIMS" EXACT [DOID:0060591, MONDO:Lexical, OMIM:193670]
synonym: "WILM" EXACT [Orphanet:51636]
xref: DOID:0060591 {source="MONDO:equivalentTo"}
xref: GARD:0009297 {source="MONDO:equivalentTo"}
xref: ICD10:D81.8 {source="ORDO:51636/attributed", source="ORDO:51636/ntbt", source="Orphanet:51636", source="DOID:0060591"}
xref: MESH:C536697 {source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="MONDO:ontobio", source="DOID:0060591"}
xref: OMIM:193670 {source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="DOID:0060591"}
xref: Orphanet:51636 {source="MONDO:equivalentTo", source="OMIM:193670"}
xref: SCTID:234571003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0472817 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="OMIM:193670", source="DOID:0060591"}
is_a: MONDO:0018032 {source="Orphanet:51636"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0018033 {source="Orphanet:51636"} ! other immunodeficiency syndromes due to defects in innate immunity
property_value: exactMatch DOID:0060591
property_value: exactMatch http://identifiers.org/mesh/C536697
property_value: exactMatch http://identifiers.org/omim/193670
property_value: exactMatch http://identifiers.org/snomedct/234571003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472817
property_value: exactMatch Orphanet:51636
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome xsd:anyURI {source="GARD:0009297"}

[Term]
id: MONDO:0008675
name: freeman-Sheldon syndrome
def: "Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." [Orphanet:2053]
subset: ordo_malformation_syndrome {source="Orphanet:2053"}
synonym: "arthrogryposis distal type 2A" RELATED [GARD:0006466]
synonym: "arthrogryposis, distal, type 2A" RELATED [MONDO:Lexical, OMIM:193700]
synonym: "arthrogryposis, distal, type 2A; DA2A" RELATED [OMIM:193700]
synonym: "cranio-carpo-tarsal syndrome" EXACT [NCIT:C98931]
synonym: "Craniocarpotarsal dysplasia" EXACT [OMIM:193700, Orphanet:2053]
synonym: "Craniocarpotarsal dystrophy" EXACT [OMIM:193700, Orphanet:2053]
synonym: "DA2A" RELATED [MONDO:Lexical, OMIM:193700]
synonym: "distal arthrogryposis type 2A" EXACT [Orphanet:2053]
synonym: "freeman Sheldon syndrome" EXACT [NCIT:C98931]
synonym: "freeman-Sheldon syndrome" EXACT [OMIM:193700]
synonym: "FSS" RELATED [GARD:0006466]
synonym: "whistling face syndrome" EXACT [Orphanet:2053]
synonym: "whistling face-windmill vane hand syndrome" RELATED [OMIM:193700]
synonym: "whistling-face syndrome" EXACT [NCIT:C98931]
synonym: "windmill-vane-hand syndrome" EXACT [NCIT:C98931]
xref: GARD:0006466 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2053/attributed", source="ORDO:2053/ntbt", source="Orphanet:2053"}
xref: MESH:C535483 {source="MONDO:equivalentTo", source="ORDO:2053/e", source="Orphanet:2053"}
xref: NCIT:C98931 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.80/0.32"}
xref: OMIM:193700 {source="MONDO:equivalentTo", source="ORDO:2053/e", source="Orphanet:2053"}
xref: Orphanet:2053 {source="OMIM:193700", source="MONDO:equivalentTo"}
xref: SCTID:52616002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265224 {source="OMIM:193700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2053/e", source="NCIT:C98931", source="Orphanet:2053"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0008779 {source="NCIT:C98931"} ! arthrogryposis
is_a: MONDO:0019942 {source="DC-OMIM:193700", source="Orphanet:2053"} ! distal arthrogryposis
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2053"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535483
property_value: exactMatch http://identifiers.org/omim/193700
property_value: exactMatch http://identifiers.org/snomedct/52616002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265224
property_value: exactMatch NCIT:C98931
property_value: exactMatch Orphanet:2053

[Term]
id: MONDO:0008676
name: white sponge nevus 1
def: "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary mucosal leukokeratosis caused by mutation in KRT4" EXACT [MONDO:design_pattern]
synonym: "KRT4 hereditary mucosal leukokeratosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "leukokeratosis, hereditary mucosal" RELATED [OMIM:193900]
synonym: "white sponge nevus 1" EXACT [MONDO:Lexical, OMIM:193900]
synonym: "WHITE sponge NEVUS 1; WSN1" RELATED [OMIM:193900]
synonym: "White sponge Nevus of Cannon" RELATED [OMIM:193900]
synonym: "White sponge Nevus type 1" EXACT [MONDORULE:1, OMIM:193900]
synonym: "WSN1" RELATED [MONDO:Lexical, OMIM:193900]
xref: OMIM:193900 {source="MONDO:equivalentTo"}
xref: UMLS:C4011926 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015748 {source="DC-OMIM:193900", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis
property_value: exactMatch http://identifiers.org/omim/193900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011926

[Term]
id: MONDO:0008677
name: widow's peak (disease)
synonym: "widow'S peak" RELATED [OMIM:194000]
synonym: "widow's peak" EXACT [MONDO:ambiguous]
xref: HP:0000349 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIM:194000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853486
property_value: exactMatch http://identifiers.org/omim/194000

[Term]
id: MONDO:0008678
name: Williams syndrome
def: "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" [Orphanet:904]
subset: ordo_malformation_syndrome {source="Orphanet:904"}
synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [OMIM:194050]
synonym: "deletion 7q11.23" EXACT [Orphanet:904]
synonym: "Fanconi Schlesinger syndrome" EXACT [CSP2005:4006-0100, DOID:1928]
synonym: "monosomy 7q11.23" EXACT [Orphanet:904]
synonym: "WBS" RELATED [MONDO:Lexical, OMIM:194050]
synonym: "Williams syndrome" EXACT [OMIM:194050]
synonym: "Williams-Beuren syndrome" EXACT [MONDO:Lexical, OMIM:194050, Orphanet:904]
synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232]
synonym: "Williams-Beuren syndrome; WBS" RELATED [OMIM:194050]
synonym: "WMS" RELATED [GARD:0007891]
xref: DOID:1928 {source="MONDO:equivalentTo"}
xref: GARD:0007891 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:904/attributed", source="ORDO:904/ntbt", source="Orphanet:904"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049644 {source="ORDO:904/e", source="Orphanet:904"}
xref: MESH:D018980 {source="DOID:1928", source="MONDO:equivalentTo", source="ORDO:904/e", source="Orphanet:904", source="MONDO:ontobio"}
xref: NCIT:C85232 {source="DOID:1928", source="MONDO:kboom-pr-1.00/0.91/25.79", source="MONDO:equivalentTo"}
xref: OMIM:194050 {source="DOID:1928", source="MONDO:equivalentTo", source="ORDO:904/e", source="Orphanet:904"}
xref: Orphanet:904 {source="MONDO:equivalentTo", source="OMIM:194050"}
xref: SCTID:63247009 {source="DOID:1928", source="MONDO:kboom-pr-1.00/0.79/7.43", source="MONDO:equivalentTo"}
xref: UMLS:C0175702 {source="DOID:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194050", source="ORDO:904/e", source="Orphanet:904", source="NCIT:C85232"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:904", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DOID:1928"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:904"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:904"} ! syndromic developmental defect of the eye
is_a: MONDO:0015329 {source="Orphanet:904"} ! malformation syndrome with short stature
is_a: MONDO:0015506 {source="Orphanet:904"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015512 {source="Orphanet:904"} ! genetic hypertension
is_a: MONDO:0016906 {source="MONDOLEX:0008678", source="Orphanet:904"} ! partial deletion of the long arm of chromosome 7
is_a: MONDO:0017656 {source="Orphanet:904"} ! motor stereotypies
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020016 {source="Orphanet:904"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0020165 {source="Orphanet:904"} ! syndromic epicanthus
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0043218 ! neurovascular disease
relationship: disease_has_feature MONDO:0008504 {source="Wikidata"} ! supravalvular aortic stenosis (disease)
property_value: exactMatch DOID:1928
property_value: exactMatch http://identifiers.org/meddra/10049644
property_value: exactMatch http://identifiers.org/mesh/D018980
property_value: exactMatch http://identifiers.org/omim/194050
property_value: exactMatch http://identifiers.org/snomedct/63247009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175702
property_value: exactMatch NCIT:C85232
property_value: exactMatch Orphanet:904

[Term]
id: MONDO:0008679
name: Wilms tumor type 1
synonym: "nephroblastoma" RELATED [OMIM:194070]
synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407]
synonym: "Wilms tumor 1" RELATED [MONDO:Lexical, OMIM:194070]
synonym: "Wilms tumor 1; WT1" RELATED [OMIM:194070]
synonym: "Wilms tumor type 1" EXACT [MONDORULE:1, OMIM:194070]
synonym: "Wilms' tumor" BROAD [CSP2005:4001-0143, DOID:2154]
synonym: "WT1" RELATED [MONDO:Lexical, OMIM:194070]
xref: OMIM:194070 {source="DOID:2154", source="MONDO:equivalentTo"}
xref: UMLS:CN033288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:194070", source="MONDOLEX:0008679"} ! kidney Wilms tumor
property_value: closeMatch http://identifiers.org/snomedct/25081006
property_value: closeMatch http://identifiers.org/snomedct/31470003
property_value: exactMatch http://identifiers.org/omim/194070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033288

[Term]
id: MONDO:0008680
name: Wilms tumor 2
subset: gard_rare
synonym: "familial Wilms tumor 2" RELATED [GARD:0008559]
synonym: "FWT2" RELATED [GARD:0008559]
synonym: "Wilms tumor 2" EXACT [MESH:C536853, MONDO:Lexical, OMIM:194071]
synonym: "Wilms tumor 2; WT2" RELATED [OMIM:194071]
synonym: "Wilms tumor type 2" EXACT [MONDORULE:1, OMIM:194071]
synonym: "WT2" RELATED [MESH:C536853, MONDO:Lexical, OMIM:194071]
xref: GARD:0008559 {source="MONDO:equivalentTo"}
xref: MESH:C536853 {source="MONDO:equivalentTo"}
xref: OMIM:194071 {source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:194071", source="MONDOLEX:0008680"} ! kidney Wilms tumor
property_value: closeMatch http://identifiers.org/omim/605982
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0694899
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853800
property_value: exactMatch http://identifiers.org/mesh/C536853
property_value: exactMatch http://identifiers.org/omim/194071
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 xsd:anyURI {source="GARD:0008559"}

[Term]
id: MONDO:0008681
name: WAGR syndrome
def: "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." [Orphanet:893]
subset: gard_rare {source="GARD:0005528"}
subset: ordo_malformation_syndrome {source="Orphanet:893"}
synonym: "11p deletion" RELATED [GARD:0001732]
synonym: "11p deletion syndrome" RELATED [GARD:0005528]
synonym: "11p monosomy" RELATED [GARD:0001732]
synonym: "11p partial monosomy syndrome" EXACT [NCIT:C3718]
synonym: "AGR triad" RELATED [GARD:0005528]
synonym: "chromosome 11p deletion" RELATED [GARD:0001732]
synonym: "chromosome 11p deletion syndrome" RELATED [GARD:0005528]
synonym: "chromosome 11P13 deletion syndrome" RELATED [OMIM:194072]
synonym: "chromosome 11p13 deletion syndrome" EXACT [DOID:14515]
synonym: "Del(11)(p13)" EXACT [Orphanet:893]
synonym: "deletion 11p" RELATED [GARD:0001732]
synonym: "deletion 11p13" EXACT [Orphanet:893]
synonym: "monosomy 11p" RELATED [GARD:0001732]
synonym: "monosomy 11p13" EXACT [Orphanet:893]
synonym: "partial monosomy 11p" RELATED [GARD:0001732]
synonym: "WAGR" RELATED [MONDO:Lexical, OMIM:194072]
synonym: "WAGR Complex" RELATED [GARD:0005528]
synonym: "WAGR syndrome" EXACT [NCIT:C3718, OMIM:194072]
synonym: "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" EXACT [NCIT:C3718]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:194072]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; WAGR" RELATED [OMIM:194072]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome" RELATED [GARD:0005528]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" EXACT [Orphanet:893]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" EXACT [DOID:14515, NCIT:C3718]
synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELATED [GARD:0005528]
xref: DOID:14515 {source="MONDO:equivalentTo"}
xref: GARD:0001732 {source="MONDO:equivalentTo"}
xref: GARD:0005528 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:893/attributed", source="ORDO:893/ntbt", source="Orphanet:893"}
xref: MESH:D017624 {source="DOID:14515", source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"}
xref: NCIT:C3718 {source="DOID:14515", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.27"}
xref: OMIM:194072 {source="DOID:14515", source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"}
xref: Orphanet:893 {source="MONDO:equivalentTo", source="OMIM:194072"}
xref: SCTID:715215007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0206115 {source="DOID:14515", source="NCIT:C3718", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194072", source="ORDO:893/e", source="Orphanet:893"}
xref: UMLS:C2931803 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"}
is_a: MONDO:0000761 {source="DOID:14515"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015945 {source="Orphanet:893"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016565 {source="Orphanet:893"} ! syndromic genetic obesity
is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm of chromosome 11
is_a: MONDO:0017891 {source="Orphanet:893"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0017978 {source="Orphanet:893"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0019721 {source="Orphanet:893"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020042 {source="Orphanet:893"} ! syndrome with 46,XY disorder of sex development
is_a: MONDO:0020148 {source="Orphanet:893"} ! syndromic aniridia
is_a: MONDO:0020222 {source="Orphanet:893"} ! rare disease with glaucoma as a major feature
property_value: closeMatch http://identifiers.org/snomedct/4135001
property_value: exactMatch DOID:14515
property_value: exactMatch http://identifiers.org/mesh/C538295
property_value: exactMatch http://identifiers.org/mesh/D017624
property_value: exactMatch http://identifiers.org/omim/194072
property_value: exactMatch http://identifiers.org/snomedct/715215007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931803
property_value: exactMatch NCIT:C3718
property_value: exactMatch Orphanet:893
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome xsd:anyURI {source="GARD:0005528"}

[Term]
id: MONDO:0008682
name: Denys-Drash syndrome
def: "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." [Orphanet:220]
subset: ordo_disease {source="Orphanet:220"}
synonym: "DDS" RELATED [MONDO:Lexical, OMIM:194080]
synonym: "Denys Drash syndrome" EXACT [NCIT:C84668]
synonym: "Denys-Drash syndrome" EXACT [MONDO:Lexical, OMIM:194080]
synonym: "Denys-Drash syndrome; DDS" RELATED [OMIM:194080]
synonym: "Drash syndrome" EXACT [OMIM:194080, Orphanet:220]
synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumor" RELATED [GARD:0005576]
synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [OMIM:194080]
synonym: "nephrotic syndrome type 4" EXACT [NCIT:C84668]
synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" RELATED [GARD:0005576]
synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080]
synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220]
xref: DOID:3764 {source="MONDO:equivalentTo"}
xref: GARD:0005576 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:N04.1 {source="ORDO:220/attributed", source="ORDO:220/ntbt", source="Orphanet:220"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10070179 {source="ORDO:220/e", source="Orphanet:220"}
xref: MESH:D030321 {source="DOID:3764", source="MONDO:equivalentTo", source="ORDO:220/e", source="MONDO:ontobio", source="Orphanet:220"}
xref: NCIT:C84668 {source="DOID:3764", source="MONDO:equivalentTo"}
xref: OMIM:194080 {source="DOID:3764", source="MONDO:equivalentTo", source="ORDO:220/e", source="Orphanet:220"}
xref: Orphanet:220 {source="OMIM:194080", source="MONDO:equivalentTo"}
xref: SCTID:236385009 {source="DOID:3764", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0950121 {source="OMIM:194080", source="NCIT:C84668", source="DOID:3764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:220/e", source="Orphanet:220"}
xref: UMLS:C3151568 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015163 {source="Orphanet:220"} ! primary glomerular disease
is_a: MONDO:0015945 {source="Orphanet:220"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017978 {source="Orphanet:220"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:220"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch DOID:3764
property_value: exactMatch http://identifiers.org/meddra/10070179
property_value: exactMatch http://identifiers.org/mesh/D030321
property_value: exactMatch http://identifiers.org/omim/194080
property_value: exactMatch http://identifiers.org/snomedct/236385009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950121
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151568
property_value: exactMatch NCIT:C84668
property_value: exactMatch Orphanet:220

[Term]
id: MONDO:0008683
name: Wilms tumor 3
synonym: "Wilms tumor 3" EXACT [MONDO:Lexical, OMIM:194090]
synonym: "Wilms tumor 3; WT3" RELATED [OMIM:194090]
synonym: "WT3" RELATED [MONDO:Lexical, OMIM:194090]
xref: MESH:C565991 {source="MONDO:equivalentTo"}
xref: OMIM:194090 {source="MONDO:equivalentTo"}
xref: UMLS:C1860265 {source="OMIM:194090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:194090", source="MONDOLEX:0008683"} ! kidney Wilms tumor
property_value: exactMatch http://identifiers.org/mesh/C565991
property_value: exactMatch http://identifiers.org/omim/194090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860265

[Term]
id: MONDO:0008684
name: Wolf-Hirschhorn syndrome
def: "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." [Orphanet:280]
subset: gard_rare {source="GARD:0007896"}
subset: ordo_malformation_syndrome {source="Orphanet:280"}
synonym: "4p deletion syndrome" EXACT [DOID:0050460]
synonym: "4p syndrome" RELATED [GARD:0007896]
synonym: "4p- syndrome" EXACT [Orphanet:280]
synonym: "chromosome 4p syndrome" RELATED [GARD:0007896]
synonym: "chromosome 4P16.3 deletion syndrome" RELATED [OMIM:194190]
synonym: "chromosome 4p16.3 deletion syndrome" EXACT [DOID:0050460]
synonym: "distal deletion 4p" EXACT [Orphanet:280]
synonym: "distal monosomy 4p" EXACT [Orphanet:280]
synonym: "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" RELATED [GARD:0007896]
synonym: "Pitt syndrome" EXACT [DOID:0050460]
synonym: "Pitt-Rogers-Danks syndrome" EXACT [DOID:0050460, OMIM:194190]
synonym: "telomeric deletion 4p" EXACT [Orphanet:280]
synonym: "WHS" RELATED [MONDO:Lexical, OMIM:194190]
synonym: "Wittwer syndrome" EXACT [OMIM:194190]
synonym: "Wolf syndrome" RELATED [GARD:0007896]
synonym: "Wolf-Hirschhorn syndrome" EXACT [MONDO:Lexical, OMIM:194190]
synonym: "WOLF-Hirschhorn syndrome; WHS" RELATED [OMIM:194190]
xref: DOID:0050460 {source="MONDO:equivalentTo"}
xref: GARD:0007896 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.3 {source="Orphanet:280", source="ORDO:280/ntbt", source="ORDO:280/inclusion", source="MONDO:directSiblingOf", source="DOID:0050460"}
xref: MedDRA:10050361 {source="ORDO:280/e", source="Orphanet:280"}
xref: MESH:D054877 {source="ORDO:280/e", source="MONDO:equivalentTo", source="Orphanet:280", source="DOID:0050460"}
xref: NCIT:C35528 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050460"}
xref: OMIM:194190 {source="ORDO:280/e", source="MONDO:equivalentTo", source="Orphanet:280", source="DOID:0050460"}
xref: Orphanet:280 {source="OMIM:194190", source="MONDO:equivalentTo"}
xref: SCTID:718226002 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0796117 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="DOID:0050460"}
xref: UMLS:C0796202 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1956097 {source="OMIM:194190", source="ORDO:280/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280", source="NCIT:C35528", source="DOID:0050460"}
xref: UMLS:CN207113 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:280", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DOID:0050460"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:280"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015652 {source="Orphanet:280", comment="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0015880 {source="Orphanet:280"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0016886 {source="Orphanet:280"} ! partial deletion of the short arm of chromosome 4
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: disease_has_feature MONDO:0019589 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic genetic deafness
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:Redundant", source="indirect"} ! epilepsy
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:280"} ! syndromic genetic deafness
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:280"} ! chromosomal anomaly with cataract
property_value: closeMatch http://identifiers.org/snomedct/17122004
property_value: closeMatch Orphanet:98788
property_value: exactMatch DOID:0050460
property_value: exactMatch http://identifiers.org/meddra/10050361
property_value: exactMatch http://identifiers.org/mesh/C536740
property_value: exactMatch http://identifiers.org/mesh/D054877
property_value: exactMatch http://identifiers.org/omim/194190
property_value: exactMatch http://identifiers.org/snomedct/718226002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207113
property_value: exactMatch NCIT:C35528
property_value: exactMatch Orphanet:280
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome xsd:anyURI {source="GARD:0007896"}

[Term]
id: MONDO:0008685
name: Wolff-Parkinson-white syndrome (disease)
def: "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." [NCIT:P378]
synonym: "accessory atrioventricular pathways" RELATED [OMIM:194200]
synonym: "anomalous A-V excitation" EXACT [DOID:384]
synonym: "anomalous atrioventricular excitation" EXACT [DOID:384]
synonym: "preexcitation syndrome" RELATED [OMIM:194200]
synonym: "Wolff-Parkinson-White pattern" EXACT [DOID:384]
synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [DOID:384]
synonym: "WOLFF-Parkinson-WHITE syndrome" RELATED [OMIM:194200]
synonym: "Wolff-Parkinson-White syndrome" EXACT [MONDO:ambiguous]
synonym: "WPW" EXACT [NCIT:C35132]
synonym: "Wpw syndrome" RELATED [OMIM:194200]
xref: COHD:313224 {source="MONDO:equivalentTo"}
xref: DOID:384 {source="MONDO:equivalentTo"}
xref: EFO:1001450 {source="MONDO:equivalentTo"}
xref: HP:0001716 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I45.6 {source="DOID:384"}
xref: ICD9:426.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:384"}
xref: NCIT:C35132 {source="MONDO:equivalentTo", source="DOID:384", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:194200 {source="MONDO:equivalentTo", source="DOID:384"}
xref: SCTID:17869006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09", source="DOID:384"}
is_a: MONDO:0000992 {source="DOID:384"} ! heart conduction disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/mesh/D014927
property_value: closeMatch http://identifiers.org/snomedct/155360000
property_value: closeMatch http://identifiers.org/snomedct/195057009
property_value: closeMatch http://identifiers.org/snomedct/195061003
property_value: closeMatch http://identifiers.org/snomedct/251115003
property_value: closeMatch http://identifiers.org/snomedct/266304003
property_value: closeMatch http://identifiers.org/snomedct/74390002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032915
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043202
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264897
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392470
property_value: closeMatch Orphanet:907
property_value: exactMatch DOID:384
property_value: exactMatch http://identifiers.org/omim/194200
property_value: exactMatch http://identifiers.org/snomedct/17869006
property_value: exactMatch NCIT:C35132

[Term]
id: MONDO:0008686
name: isolated familial woolly hair disorder
def: "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." [Orphanet:170]
subset: ordo_disease {source="Orphanet:170"}
synonym: "familial woolly hair (autosomal recessive)" RELATED [GARD:0005597]
synonym: "familial woolly hair syndrome" EXACT [Orphanet:170]
synonym: "familial wooly hair syndrome" EXACT [Orphanet:170]
synonym: "hereditary woolly hair (autosomal dominant)" RELATED [GARD:0005597]
synonym: "hereditary woolly hair syndrome" EXACT [Orphanet:170]
synonym: "hereditary wooly hair syndrome" EXACT [Orphanet:170]
synonym: "woolly hair" EXACT [MONDO:ambiguous]
synonym: "woolly hair syndrome" RELATED [GARD:0005597]
synonym: "woolly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300]
synonym: "woolly hair, autosomal dominant; ADWH" RELATED [OMIM:194300]
synonym: "wooly hair" EXACT [Orphanet:170]
xref: GARD:0005597 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002224 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q84.1 {source="ORDO:170/index", source="Orphanet:170", source="ORDO:170/ntbt"}
xref: MedDRA:10048017 {source="ORDO:170/e", source="Orphanet:170"}
xref: MESH:C536745 {source="ORDO:170/e", source="MONDO:equivalentTo", source="Orphanet:170"}
xref: Orphanet:170 {source="MONDO:equivalentTo", source="OMIM:194300"}
xref: SCTID:52564001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.08"}
xref: UMLS:CN200245 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019281 {source="Orphanet:170"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/meddra/10048017
property_value: exactMatch http://identifiers.org/mesh/C536745
property_value: exactMatch http://identifiers.org/snomedct/52564001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200245
property_value: exactMatch Orphanet:170

[Term]
id: MONDO:0008687
name: Woronets trait
synonym: "Woronets trait" EXACT [OMIM:194320]
xref: OMIM:194320 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860237
property_value: exactMatch http://identifiers.org/omim/194320

[Term]
id: MONDO:0008688
name: WT limb-blood syndrome
def: "WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." [Orphanet:3466]
subset: gard_rare {source="GARD:0000039"}
subset: ordo_disease {source="Orphanet:3466"}
synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039]
synonym: "WT limb blood syndrome" RELATED [GARD:0000039]
synonym: "WT limb-blood syndrome" EXACT [OMIM:194350]
synonym: "WTsyndrome" RELATED [GARD:0000039]
xref: GARD:0000039 {source="MONDO:equivalentTo"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="Orphanet:3466", source="ORDO:3466/attributed", source="ORDO:3466/ntbt"}
xref: MESH:C536751 {source="Orphanet:3466", source="ORDO:3466/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:194350 {source="Orphanet:3466", source="ORDO:3466/e", source="MONDO:equivalentTo"}
xref: Orphanet:3466 {source="MONDO:equivalentTo", source="OMIM:194350"}
xref: SCTID:719019000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C1327917 {source="Orphanet:3466", source="ORDO:3466/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194350"}
is_a: MONDO:0001713 {source="Orphanet:3466", source="linkedlifedata"} ! inherited aplastic anemia
property_value: exactMatch http://identifiers.org/mesh/C536751
property_value: exactMatch http://identifiers.org/omim/194350
property_value: exactMatch http://identifiers.org/snomedct/719019000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327917
property_value: exactMatch Orphanet:3466
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome xsd:anyURI {source="GARD:0000039"}

[Term]
id: MONDO:0008689
name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
subset: gard_rare
synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380]
synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380]
synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema; DHS1" RELATED [OMIM:194380]
synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema" RELATED [GARD:0010676]
synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical, OMIM:194380]
synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; DHS" RELATED [OMIM:194380]
synonym: "Desiccytosis, hereditary" RELATED [OMIM:194380]
synonym: "DHS" RELATED [MONDO:Lexical, OMIM:194380]
synonym: "DHS1" RELATED [OMIM:194380]
synonym: "pseudohyperkalemia Edinburgh" RELATED [OMIM:194380]
synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [OMIM:194380]
synonym: "xerocytosis, hereditary" RELATED [OMIM:194380]
xref: GARD:0010676 {source="MONDO:equivalentTo"}
xref: OMIM:194380 {source="MONDO:equivalentTo"}
is_a: MONDO:0017910 {source="DC-OMIM:194380", source="MONDOLEX:0008689"} ! dehydrated hereditary stomatocytosis
property_value: closeMatch http://identifiers.org/omim/603528
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272051
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863769
property_value: exactMatch http://identifiers.org/omim/194380
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema xsd:anyURI {source="GARD:0010676"}

[Term]
id: MONDO:0008690
name: xeroderma pigmentosum, autosomal dominant, mild
synonym: "xeroderma pigmentosum, autosomal dominant, mild" EXACT [OMIM:194400]
xref: MESH:C565989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:194400 {source="MONDO:equivalentTo"}
xref: UMLS:C1860231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194400"}
is_a: MONDO:0019600 {source="DC-OMIM:194400", source="MESH:C565989"} ! xeroderma pigmentosum
property_value: exactMatch http://identifiers.org/mesh/C565989
property_value: exactMatch http://identifiers.org/omim/194400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860231

[Term]
id: MONDO:0008691
name: zinc, elevated plasma
synonym: "albumin binding of zinc, elevated" RELATED [OMIM:194470]
synonym: "hyperzincemia and hypercalprotectinemia" RELATED [OMIM:194470]
synonym: "hyperzincemia, familial Dysalbuminemic" RELATED [OMIM:194470]
synonym: "zinc, elevated plasma" EXACT [OMIM:194470]
xref: OMIM:194470 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:194470/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860228
property_value: exactMatch http://identifiers.org/omim/194470

[Term]
id: MONDO:0008692
name: abetalipoproteinemia
def: "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." [Orphanet:14]
subset: ordo_disease {source="Orphanet:14"}
synonym: "abetalipoproteinemia" EXACT [MONDO:Lexical, OMIM:200100]
synonym: "abetalipoproteinemia neuropathy" RELATED [GARD:0000005]
synonym: "abetalipoproteinemia; ABL" RELATED [OMIM:200100]
synonym: "ABL" RELATED [MONDO:Lexical, OMIM:200100]
synonym: "acanthocytosis" RELATED [OMIM:200100]
synonym: "apolipoprotein B deficiency" RELATED [GARD:0000005]
synonym: "Bassen Kornzweig syndrome" RELATED [GARD:0000005]
synonym: "Bassen-Kornzweig disease" EXACT [Orphanet:14]
synonym: "Bassen-Kornzweig syndrome" RELATED [OMIM:200100]
synonym: "Betalipoprotein deficiency disease" RELATED [GARD:0000005]
synonym: "congenital betalipoprotein deficiency syndrome" RELATED [GARD:0000005]
synonym: "familial hypobetalipoproteinemia" EXACT [DOID:1386, MTHICD9_2006:272.5]
synonym: "homozygous familial hypobetalipoproteinemia" EXACT [Orphanet:14]
synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [OMIM:200100]
synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [CSP2005:1849-5137, DOID:1386]
synonym: "MTP deficiency" RELATED [OMIM:200100]
xref: DOID:1386 {source="MONDO:equivalentTo"}
xref: GARD:0000005 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.6 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/ntbt", source="ORDO:14/inclusion"}
xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/e", source="MONDO:equivalentTo"}
xref: NCIT:C84525 {source="DOID:1386", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:200100 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/e", source="MONDO:equivalentTo"}
xref: Orphanet:14 {source="MONDO:equivalentTo", source="OMIM:200100"}
xref: SCTID:190787008 {source="DOID:1386", source="MONDO:kboom-pr-0.89/0.76/0.27", source="MONDO:equivalentTo"}
xref: UMLS:C0000744 {source="DOID:1386", source="NCIT:C84525", source="Orphanet:14", source="NCBI:mim2gene_medline", source="ORDO:14/e", source="MONDO:equivalentTo", source="OMIM:200100"}
is_a: MONDO:0015180 {source="Orphanet:14"} ! intestinal disease due to fat malabsorption
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016133 {source="Orphanet:14"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017774 {source="MESH:D000012", source="Orphanet:14"} ! hypobetalipoproteinemia
is_a: MONDO:0019058 {source="Orphanet:14"} ! neurometabolic disease
is_a: MONDO:0020044 {source="Orphanet:14"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020103 {source="Orphanet:14"} ! constitutional hemolytic anemia due to acanthocytosis
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0020281 {source="Orphanet:14"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://identifiers.org/snomedct/83123000
property_value: exactMatch DOID:1386
property_value: exactMatch http://identifiers.org/mesh/D000012
property_value: exactMatch http://identifiers.org/omim/200100
property_value: exactMatch http://identifiers.org/snomedct/190787008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0000744
property_value: exactMatch NCIT:C84525
property_value: exactMatch Orphanet:14

[Term]
id: MONDO:0008693
name: ablepharon macrostomia syndrome
def: "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term)." [Orphanet:920]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:920"}
synonym: "ablepharon-macrostomia syndrome" RELATED [MONDO:Lexical, OMIM:200110]
synonym: "ablepharon-macrostomia syndrome; AMS" RELATED [OMIM:200110]
synonym: "AMS" RELATED [GARD:0000003, MONDO:Lexical, OMIM:200110]
synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" RELATED [GARD:0000003]
synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT EXCLUDE [DOID:0060550]
xref: DOID:0060550 {source="MONDO:equivalentTo"}
xref: GARD:0000003 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:920", source="ORDO:920/attributed", source="ORDO:920/ntbt"}
xref: MESH:C535557 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="MONDO:equivalentTo"}
xref: OMIM:200110 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo"}
xref: Orphanet:920 {source="DOID:0060550", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo"}
xref: SCTID:718575002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1860224 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="OMIM:200110", source="GARD:0000003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:920"} ! syndromic developmental defect of the eye
is_a: MONDO:0015335 {source="Orphanet:920"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020154 {source="Orphanet:920"} ! microblepharon-ablephara syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:920"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060550
property_value: exactMatch http://identifiers.org/mesh/C535557
property_value: exactMatch http://identifiers.org/omim/200110
property_value: exactMatch http://identifiers.org/snomedct/718575002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860224
property_value: exactMatch Orphanet:920

[Term]
id: MONDO:0008694
name: pseudoprogeria syndrome
def: "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." [Orphanet:2985]
subset: gard_rare {source="GARD:0000415"}
subset: ordo_malformation_syndrome {source="Orphanet:2985"}
synonym: "absent eyebrows and eyelashes with mental retardation" RELATED [OMIM:200130]
synonym: "absent eyebrows and eyelashes-intellectual disability syndrome" EXACT [Orphanet:2985]
synonym: "eyebrows and eyelashes absence-intellectual disability syndrome" EXACT [Orphanet:2985]
synonym: "Hal-Berg-Rudolph syndrome" EXACT [Orphanet:2985]
synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED [GARD:0000415]
synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130]
xref: GARD:0000415 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2985/attributed", source="ORDO:2985/ntbt", source="Orphanet:2985"}
xref: MESH:C563111 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200130 {source="ORDO:2985/e", source="MONDO:equivalentTo", source="Orphanet:2985"}
xref: Orphanet:2985 {source="OMIM:200130", source="MONDO:equivalentTo"}
xref: SCTID:733086003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796125 {source="OMIM:200130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2985", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2985", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2985"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015333 {source="Orphanet:2985"} ! progeroid syndrome
property_value: exactMatch http://identifiers.org/mesh/C563111
property_value: exactMatch http://identifiers.org/omim/200130
property_value: exactMatch http://identifiers.org/snomedct/733086003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796125
property_value: exactMatch Orphanet:2985
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome xsd:anyURI {source="GARD:0000415"}

[Term]
id: MONDO:0008695
name: chorea-acanthocytosis
def: "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." [Orphanet:2388]
subset: ordo_disease {source="Orphanet:2388"}
synonym: "acanthocytosis with neurologic disorder" RELATED [OMIM:200150]
synonym: "Chac" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388]
synonym: "chorea acanthocytosis" RELATED [GARD:0003956]
synonym: "chorea-acanthocytosis" EXACT [OMIM:200150, Orphanet:2388]
synonym: "choreaacanthocytosis" RELATED [DOID:0050766]
synonym: "choreo-acanthocytosis" EXACT [DOID:0050766]
synonym: "choreoacanthocytosis" EXACT [DOID:0050766]
synonym: "choreoacanthocytosis" RELATED [MONDO:Lexical, OMIM:200150]
synonym: "CHOREOACANTHOCYTOSIS; Chac" RELATED [OMIM:200150]
synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet:2388]
synonym: "neuroacanthocytosis" RELATED [OMIM:200150]
xref: DOID:0050766 {source="MONDO:equivalentTo"}
xref: GARD:0003956 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.6 {source="Orphanet:2388", source="DOID:0050766", source="ORDO:2388/attributed", source="ORDO:2388/ntbt"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:200150 {source="Orphanet:2388", source="ORDO:2388/e", source="DOID:0050766", source="MONDO:equivalentTo"}
xref: Orphanet:2388 {source="OMIM:200150", source="DOID:0050766", source="MONDO:equivalentTo"}
xref: SCTID:66881004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0016133 {source="Orphanet:2388"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016406 {source="Orphanet:2388"} ! other metabolic disease with epilepsy
is_a: MONDO:0016987 {source="DOID:0050766", source="Orphanet:2388"} ! neuroacanthocytosis
is_a: MONDO:0017646 ! neurodegenerative disease with chorea
is_a: MONDO:0019058 {source="Orphanet:2388"} ! neurometabolic disease
is_a: MONDO:0019274 {source="Orphanet:2388"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:2388"} ! other genetic epidermal disease
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0050766
property_value: exactMatch http://identifiers.org/omim/200150
property_value: exactMatch http://identifiers.org/snomedct/66881004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393576
property_value: exactMatch Orphanet:2388

[Term]
id: MONDO:0008696
name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
def: "This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." [Orphanet:90301]
subset: ordo_disease {source="Orphanet:90301"}
synonym: "acanthosis nigricans muscle cramps acral enlargement" RELATED [GARD:0000453]
synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [OMIM:200170]
synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453]
xref: GARD:0000453 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536000 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200170 {source="MONDO:equivalentTo", source="ORDO:90301/e", source="Orphanet:90301"}
xref: Orphanet:90301 {source="MONDO:equivalentTo", source="OMIM:200170"}
xref: UMLS:C1860215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200170"}
is_a: MONDO:0007035 {source="MESH:C536000"} ! acanthosis nigricans (disease)
is_a: MONDO:0015885 {source="Orphanet:90301"} ! rare insulin-resistance syndrome
is_a: MONDO:0019274 {source="Orphanet:90301"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:90301"} ! other genetic epidermal disease
property_value: exactMatch http://identifiers.org/mesh/C536000
property_value: exactMatch http://identifiers.org/omim/200170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860215
property_value: exactMatch Orphanet:90301

[Term]
id: MONDO:0008697
name: obsolete acetophenetidin sensitivity
synonym: "Acetophenetidin sensitivity" EXACT [OMIM:200300]
xref: OMIM:200300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860214
property_value: exactMatch http://identifiers.org/omim/200300
is_obsolete: true

[Term]
id: MONDO:0008698
name: achalasia (disease)
def: "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." [NCIT:P378]
synonym: "achalasia" EXACT [MONDO:ambiguous]
synonym: "achalasia of cardia" EXACT [DOID:9164, MTHICD9_2006:530.0]
synonym: "achalasia of esophagus" EXACT [DOID:9164]
synonym: "achalasia, familial esophageal" RELATED [OMIM:200400]
synonym: "cardiospasm" EXACT [CSP2005:1248-5473, DOID:9164]
synonym: "esophageal achalasia" EXACT [DOID:9164, MTH:NOCODE]
synonym: "hypertensive lower esophageal sphincter" EXACT [DOID:9164]
synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT [DOID:9164]
xref: COHD:318186 {source="MONDO:equivalentTo"}
xref: DOID:9164 {source="MONDO:equivalentTo"}
xref: HP:0002571 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K22.0 {source="DOID:9164"}
xref: ICD9:530.0 {source="DOID:9164"}
xref: OMIM:200400 {source="MONDO:equivalentTo", source="DOID:9164"}
xref: SCTID:235630008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.82/0.10"}
xref: UMLS:C0014848 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="DOID:9164"}
xref: UMLS:C1321756 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
xref: UMLS:C2939435 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="DOID:9164", source="linkedlifedata", source="linkedlifedata/inferred"} ! esophageal disease
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019635 {source="ORDO:930/btnt"} ! idiopathic achalasia
property_value: closeMatch http://identifiers.org/mesh/D004931
property_value: closeMatch http://identifiers.org/snomedct/155672003
property_value: closeMatch http://identifiers.org/snomedct/17460002
property_value: closeMatch http://identifiers.org/snomedct/45564002
property_value: exactMatch DOID:9164
property_value: exactMatch http://identifiers.org/omim/200400
property_value: exactMatch http://identifiers.org/snomedct/235630008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939435
property_value: exactMatch NCIT:C84699

[Term]
id: MONDO:0008699
name: achalasia microcephaly syndrome
def: "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." [Orphanet:929]
subset: gard_rare {source="GARD:0000456"}
subset: ordo_malformation_syndrome {source="Orphanet:929"}
synonym: "achalasia microcephaly" EXACT [DOID:0050796]
synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450]
xref: DOID:0050796 {source="MONDO:equivalentTo"}
xref: GARD:0000456 {source="MONDO:equivalentTo"}
xref: ICD10:Q39.5 {source="ORDO:929/attributed", source="ORDO:929/ntbt", source="Orphanet:929"}
xref: MESH:C536010 {source="DOID:0050796", source="MONDO:equivalentTo", source="ORDO:929/e", source="MONDO:ontobio", source="Orphanet:929"}
xref: OMIM:200450 {source="DOID:0050796", source="MONDO:equivalentTo", source="ORDO:929/e", source="Orphanet:929"}
xref: Orphanet:929 {source="OMIM:200450", source="MONDO:equivalentTo"}
xref: SCTID:718573009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1860212 {source="MEDGEN:kboom-pr97-c99", source="DOID:0050796", source="NCBI:mim2gene_medline", source="OMIM:200450", source="MONDO:equivalentTo", source="ORDO:929/e", source="Orphanet:929"}
is_a: MONDO:0006025 {source="DOID:0050796", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015208 {source="Orphanet:929"} ! syndromic esophageal malformation
property_value: exactMatch DOID:0050796
property_value: exactMatch http://identifiers.org/mesh/C536010
property_value: exactMatch http://identifiers.org/omim/200450
property_value: exactMatch http://identifiers.org/snomedct/718573009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860212
property_value: exactMatch Orphanet:929
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome xsd:anyURI {source="GARD:0000456"}

[Term]
id: MONDO:0008700
name: acheiropody
def: "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." [Orphanet:931]
subset: ordo_morphological_anomaly {source="Orphanet:931"}
synonym: "acheiropodia" EXACT [DOID:0050603, OMIM:200500]
synonym: "acheiropody" EXACT [MONDO:Lexical, OMIM:200500, Orphanet:931]
synonym: "acheiropody, Brazilian type" RELATED [OMIM:200500]
synonym: "acheiropody; ACHP" RELATED [OMIM:200500]
synonym: "ACHP" RELATED [MONDO:Lexical, OMIM:200500]
synonym: "horn-Kolb syndrome" EXACT [DOID:0050603]
xref: DOID:0050603 {source="MONDO:equivalentTo"}
xref: GARD:0000376 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="Orphanet:931", source="ORDO:931/attributed", source="ORDO:931/ntbt"}
xref: MESH:C536014 {source="ORDO:931/e", source="Orphanet:931", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200500 {source="ORDO:931/e", source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603"}
xref: Orphanet:931 {source="MONDO:equivalentTo", source="OMIM:200500"}
xref: SCTID:177504007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.70"}
is_a: MONDO:0005516 {source="DOID:0050603", source="Orphanet:931"} ! osteochondrodysplasia
is_a: MONDO:0017421 {source="Orphanet:931"} ! non-syndromic terminal limb defects
property_value: exactMatch DOID:0050603
property_value: exactMatch http://identifiers.org/mesh/C536014
property_value: exactMatch http://identifiers.org/omim/200500
property_value: exactMatch http://identifiers.org/snomedct/177504007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265559
property_value: exactMatch Orphanet:931

[Term]
id: MONDO:0008701
name: achondrogenesis type IA
def: "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." [Orphanet:93299]
subset: ordo_clinical_subtype {source="Orphanet:93299"}
synonym: "ACG1A" RELATED [MONDO:Lexical, OMIM:200600]
synonym: "achondrogenesis Houston-Harris type" EXACT [DOID:0080054]
synonym: "achondrogenesis type 1A" RELATED [Orphanet:93299]
synonym: "achondrogenesis, Houston-Harris type" EXACT [OMIM:200600, Orphanet:93299]
synonym: "achondrogenesis, type 1A" RELATED [OMIM:200600]
synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600]
synonym: "achondrogenesis, type IA; ACG1A" RELATED [OMIM:200600]
synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459]
xref: DOID:0080054 {source="MONDO:equivalentTo"}
xref: GARD:0000459 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93299", source="ORDO:93299/attributed", source="ORDO:93299/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536015 {source="ORDO:93299/e", source="Orphanet:93299", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200600 {source="ORDO:93299/e", source="DOID:0080054", source="Orphanet:93299", source="MONDO:equivalentTo"}
xref: Orphanet:93299 {source="MONDO:equivalentTo", source="OMIM:200600"}
xref: SCTID:42725006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299", source="linkedlifedata"} ! achondrogenesis
property_value: exactMatch DOID:0080054
property_value: exactMatch http://identifiers.org/mesh/C536015
property_value: exactMatch http://identifiers.org/omim/200600
property_value: exactMatch http://identifiers.org/snomedct/42725006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265273
property_value: exactMatch Orphanet:93299

[Term]
id: MONDO:0008702
name: achondrogenesis type II
def: "Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." [Orphanet:93296]
subset: ordo_clinical_subtype {source="Orphanet:93296"}
synonym: "ACG2" RELATED [MONDO:Lexical, OMIM:200610]
synonym: "achondrogenesis type 2" RELATED [Orphanet:93296]
synonym: "achondrogenesis, Langer-Saldino type" EXACT [OMIM:200610, Orphanet:93296]
synonym: "achondrogenesis, type 2" RELATED [OMIM:200610]
synonym: "achondrogenesis, type IB" RELATED [OMIM:200610]
synonym: "achondrogenesis, type IB, formerly" RELATED [OMIM:200610]
synonym: "achondrogenesis, type II" RELATED [MONDO:Lexical, OMIM:200610]
synonym: "achondrogenesis, type II; ACG2" RELATED [OMIM:200610]
synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610]
synonym: "hypochondrogenesis" RELATED [OMIM:200610]
xref: DOID:0080056 {source="MONDO:equivalentTo"}
xref: GARD:0008713 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93296", source="ORDO:93296/attributed", source="ORDO:93296/ntbt"}
xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="ORDO:93296/e"}
xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="ORDO:93296/e"}
xref: Orphanet:93296 {source="MONDO:equivalentTo", source="OMIM:200610"}
is_a: MONDO:0019648 {source="DC-OMIM:200610", source="DOID:0080056", source="OMIM:200610", source="Orphanet:93296"} ! achondrogenesis
is_a: MONDO:0019686 {source="Orphanet:93296"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch DOID:0080056
property_value: exactMatch http://identifiers.org/mesh/C536017
property_value: exactMatch http://identifiers.org/omim/200610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220685
property_value: exactMatch Orphanet:93296

[Term]
id: MONDO:0008703
name: acromesomelic dysplasia, Grebe type
def: "Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal." [Orphanet:2098]
subset: ordo_malformation_syndrome {source="Orphanet:2098"}
synonym: "achondrogenesis type II (formerly)" RELATED [GARD:0001300]
synonym: "achondrogenesis, Brazilian" RELATED [OMIM:200700]
synonym: "achondrogenesis, type II" RELATED [OMIM:200700]
synonym: "achondrogenesis, type II, formerly" RELATED [OMIM:200700]
synonym: "acromesomelic dysplasia, Grebe type" EXACT [OMIM:200700]
synonym: "AMDG" RELATED [GARD:0001300]
synonym: "Brazilian achondrogenesis" RELATED [GARD:0001300]
synonym: "chondrodysplasia, GREBE type" RELATED [OMIM:200700]
synonym: "chondrodysplasia, Grebe type" EXACT [Orphanet:2098]
synonym: "GREBE chondrodysplasia" EXACT [DOID:0080052]
synonym: "Grebe chondrodysplasia" RELATED [OMIM:200700]
synonym: "Grebe dysplasia" RELATED [OMIM:200700]
synonym: "Grebe syndrome" RELATED [GARD:0001300]
synonym: "hypochondrogenesis" EXACT [NCIT:C3816]
synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816]
synonym: "type II achondrogenesis" EXACT [NCIT:C3816]
xref: DOID:0080052 {source="MONDO:equivalentTo"}
xref: GARD:0001300 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:2098/attributed", source="ORDO:2098/ntbt", source="Orphanet:2098"}
xref: NCIT:C3816 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.46/0.31"}
xref: OMIM:200700 {source="DOID:0080052", source="MONDO:equivalentTo", source="Orphanet:2098", source="ORDO:2098/e"}
xref: Orphanet:2098 {source="MONDO:equivalentTo", source="OMIM:200700"}
xref: UMLS:C0265260 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200700", source="Orphanet:2098", source="MEDGEN:kboom-pr87-c94", source="ORDO:2098/e"}
is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis
is_a: MONDO:0019696 {source="DOID:0080052", source="Orphanet:2098"} ! acromesomelic dysplasia
property_value: exactMatch DOID:0080052
property_value: exactMatch http://identifiers.org/omim/200700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265260
property_value: exactMatch NCIT:C3816
property_value: exactMatch Orphanet:2098

[Term]
id: MONDO:0008704
name: short-limb skeletal dysplasia with severe combined immunodeficiency
def: "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." [Orphanet:935]
subset: gard_rare
subset: ordo_disease {source="Orphanet:935"}
synonym: "achondroplasia and severe combined immunodeficiency" RELATED [GARD:0002988]
synonym: "achondroplasia and Swiss type agammaglobulinemia" RELATED [GARD:0000463]
synonym: "achondroplasia and Swiss-type agammaglobulinemia" RELATED [GARD:0000463]
synonym: "achondroplasia so-called and severe combined immunodeficiency" RELATED [GARD:0002988]
synonym: "achondroplasia, so-called, and severe combined immunodeficiency" RELATED [OMIM:200900]
synonym: "achondroplasia-SCID syndrome" EXACT [Orphanet:935]
synonym: "achondroplasia-severe combined immunodeficiency syndrome" EXACT [Orphanet:935]
synonym: "achondroplasia-Swiss type agammaglobulinemia syndrome" EXACT [Orphanet:935]
synonym: "agammaglobulinemia and achondroplasia" RELATED [GARD:0000463]
synonym: "immunodeficiency-short limb dwarfism syndrome" EXACT [Orphanet:935]
synonym: "short limb skeletal dysplasia with SCID" EXACT [Orphanet:935]
synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, OMIM:200900]
synonym: "SLSD with SCID" RELATED [GARD:0002988]
synonym: "Slsd with SCID" RELATED [OMIM:200900]
xref: GARD:0000463 {source="MONDO:equivalentTo"}
xref: GARD:0002988 {source="MONDO:equivalentTo"}
xref: ICD10:D82.2 {source="ORDO:935/specific", source="ORDO:935/e", source="Orphanet:935"}
xref: MESH:C565984 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200900 {source="GARD:0000463", source="ORDO:935/e", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988"}
xref: Orphanet:935 {source="MONDO:equivalentTo", source="GARD:0002988", source="OMIM:200900"}
xref: UMLS:C1860168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="OMIM:200900"}
is_a: MONDO:0017855 {source="Orphanet:935"} ! T-B- severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C536020
property_value: exactMatch http://identifiers.org/mesh/C565984
property_value: exactMatch http://identifiers.org/omim/200900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860168
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931087
property_value: exactMatch Orphanet:935
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency xsd:anyURI {source="GARD:0002988"}

[Term]
id: MONDO:0008705
name: lysosomal acid phosphatase deficiency
subset: ordo_disease {source="Orphanet:35121"}
synonym: "acid phosphatase deficiency" EXACT [OMIM:200950]
synonym: "lysosomal acid phosphatase deficiency" EXACT [Orphanet:35121]
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:35121/ntbt", source="Orphanet:35121", source="ORDO:35121/inclusion"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562645 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200950 {source="MONDO:equivalentTo", source="ORDO:35121/e", source="Orphanet:35121"}
xref: Orphanet:35121 {source="MONDO:equivalentTo", source="OMIM:200950"}
xref: SCTID:57863006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268410 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:35121/e", source="OMIM:200950", source="Orphanet:35121"}
is_a: MONDO:0002561 {source="Orphanet:35121", source="linkedlifedata"} ! lysosomal storage disease
property_value: exactMatch http://identifiers.org/mesh/C562645
property_value: exactMatch http://identifiers.org/omim/200950
property_value: exactMatch http://identifiers.org/snomedct/57863006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268410
property_value: exactMatch Orphanet:35121

[Term]
id: MONDO:0008706
name: Ackerman syndrome
def: "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." [Orphanet:2561]
subset: gard_rare {source="GARD:0000469"}
subset: ordo_malformation_syndrome {source="Orphanet:2561"}
synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561]
synonym: "Ackerman syndrome" EXACT [OMIM:200970]
synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [OMIM:200970]
synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GARD:0000469]
synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970]
synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561]
synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469]
xref: GARD:0000469 {source="MONDO:equivalentTo"}
xref: ICD10:K00.2 {source="Orphanet:2561", source="ORDO:2561/attributed", source="ORDO:2561/ntbt"}
xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2561/e"}
xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="ORDO:2561/e"}
xref: Orphanet:2561 {source="MONDO:equivalentTo", source="OMIM:200970"}
xref: SCTID:722280000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1860167 {source="Orphanet:2561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200970", source="ORDO:2561/e"}
is_a: MONDO:0015336 {source="Orphanet:2561"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:2561", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2561"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538170
property_value: exactMatch http://identifiers.org/omim/200970
property_value: exactMatch http://identifiers.org/snomedct/722280000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860167
property_value: exactMatch Orphanet:2561
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome xsd:anyURI {source="GARD:0000469"}

[Term]
id: MONDO:0008707
name: acro-renal-mandibular syndrome
def: "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis (see these terms), polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." [Orphanet:958]
subset: ordo_malformation_syndrome {source="Orphanet:958"}
synonym: "acro-renal-uterine-mandibular syndrome" RELATED [GARD:0000480]
synonym: "acrorenal mandibular syndrome" RELATED [GARD:0000480]
synonym: "acrorenal-mandibular syndrome" RELATED [OMIM:200980]
synonym: "acrorenal-uterine-mandibular syndrome" RELATED [OMIM:200980]
synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480]
synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958]
synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980]
xref: GARD:0000480 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:958/attributed", source="ORDO:958/ntbt", source="Orphanet:958"}
xref: MESH:C535665 {source="ORDO:958/e", source="MONDO:equivalentTo", source="Orphanet:958", source="MONDO:ontobio"}
xref: OMIM:200980 {source="ORDO:958/e", source="MONDO:equivalentTo", source="Orphanet:958"}
xref: Orphanet:958 {source="MONDO:equivalentTo", source="OMIM:200980"}
xref: SCTID:720414005 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
xref: UMLS:C1860166 {source="ORDO:958/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200980", source="Orphanet:958"}
is_a: MONDO:0043008 {source="Orphanet:958"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535665
property_value: exactMatch http://identifiers.org/omim/200980
property_value: exactMatch http://identifiers.org/snomedct/720414005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860166
property_value: exactMatch Orphanet:958

[Term]
id: MONDO:0008708
name: acrocallosal syndrome
def: "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." [Orphanet:36]
subset: ordo_malformation_syndrome {source="Orphanet:36"}
synonym: "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" RELATED [GARD:0005721]
synonym: "ACLS" EXACT [DOID:9250, MONDO:Lexical, OMIM:200990]
synonym: "acrocallosal syndrome" EXACT [MONDO:Lexical, OMIM:200990]
synonym: "acrocallosal syndrome, Schinzel type" RELATED [GARD:0005721]
synonym: "acrocallosal syndrome; ACLS" RELATED [OMIM:200990]
synonym: "ACS" EXACT [Orphanet:36]
synonym: "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" RELATED [OMIM:200990]
synonym: "Joubert syndrome 12" RELATED [OMIM:200990]
synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:200990]
synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990]
synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE]
xref: DOID:9250 {source="MONDO:equivalentTo"}
xref: GARD:0005721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.0 {source="Orphanet:36", source="ORDO:36/attributed", source="ORDO:36/ntbt"}
xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"}
xref: NCIT:C84531 {source="MONDO:kboom-pr-0.92/0.79/0.77", source="DOID:9250", source="MONDO:equivalentTo"}
xref: OMIM:200990 {source="Orphanet:36", source="ORDO:36/e", source="DOID:9250", source="MONDO:equivalentTo"}
xref: Orphanet:36 {source="OMIM:200990", source="MONDO:equivalentTo"}
xref: SCTID:715951007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796147 {source="OMIM:200990", source="Orphanet:36", source="NCBI:mim2gene_medline", source="ORDO:36/e", source="DOID:9250", source="MONDO:equivalentTo", source="NCIT:C84531"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:36", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:36"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 {source="Orphanet:36"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0017434 {source="Orphanet:36"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931760
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277723
property_value: exactMatch DOID:9250
property_value: exactMatch http://identifiers.org/mesh/D055673
property_value: exactMatch http://identifiers.org/omim/200990
property_value: exactMatch http://identifiers.org/snomedct/715951007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796147
property_value: exactMatch NCIT:C84531
property_value: exactMatch Orphanet:36

[Term]
id: MONDO:0008709
name: acrocephalopolydactyly
def: "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." [Orphanet:221054]
comment: Editor note: check GARD
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:221054"}
synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:221054]
synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054]
xref: GARD:0000486 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"}
xref: GARD:0002096 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:221054", source="ORDO:221054/attributed", source="ORDO:221054/ntbt"}
xref: MESH:C573722 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="ORDO:221054/e"}
xref: Orphanet:221054 {source="MONDO:equivalentTo", source="OMIM:200995"}
xref: SCTID:720417003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C3495588 {source="Orphanet:221054", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="OMIM:200995"}
xref: UMLS:CN201238 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015338 {source="Orphanet:221054"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C573722
property_value: exactMatch http://identifiers.org/omim/200995
property_value: exactMatch http://identifiers.org/snomedct/720417003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201238
property_value: exactMatch Orphanet:221054

[Term]
id: MONDO:0008710
name: Carpenter syndrome 1
def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACPS 2" BROAD [OMIM:201000]
synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000]
synonym: "Carpenter syndrome" BROAD [OMIM:201000]
synonym: "Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:201000]
synonym: "CARPENTER syndrome 1; CRPT1" RELATED [OMIM:201000]
synonym: "Carpenter syndrome caused by mutation in RAB23" EXACT [MONDO:design_pattern]
synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000]
synonym: "CRPT1" RELATED [MONDO:Lexical, OMIM:201000]
synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:201000 {source="MONDO:equivalentTo"}
xref: SCTID:205813009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.33/0.07"}
is_a: MONDO:0019012 {source="DC-OMIM:201000", source="MONDO:Redundant", source="MONDOLEX:0008710", source="OMIM:201000"} ! Carpenter syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796281
property_value: exactMatch http://identifiers.org/omim/201000
property_value: exactMatch http://identifiers.org/snomedct/205813009

[Term]
id: MONDO:0008711
name: Goodman syndrome
def: "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." [Orphanet:65798]
subset: gard_rare {source="GARD:0002549"}
subset: ordo_malformation_syndrome {source="Orphanet:65798"}
synonym: "ACPS 4" EXACT [OMIM:201020]
synonym: "ACPS4" EXACT [Orphanet:65798]
synonym: "acrocephalopolysyndactyly type 4" EXACT [Orphanet:65798]
synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020]
synonym: "Goodman camptodactyly" RELATED [GARD:0002549]
synonym: "Goodman syndrome" EXACT [OMIM:201020]
xref: GARD:0002549 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:65798", source="ORDO:65798/attributed", source="ORDO:65798/ntbt"}
xref: MESH:C537287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201020 {source="ORDO:65798/e", source="Orphanet:65798", source="MONDO:equivalentTo"}
xref: Orphanet:65798 {source="OMIM:201020", source="MONDO:equivalentTo"}
xref: SCTID:720600004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.51"}
is_a: MONDO:0000078 {source="DC-OMIM:201020"} ! acrocephalopolysyndactyly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:65798"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: disease_shares_features_of MONDO:0019012 ! Carpenter syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265303
property_value: exactMatch http://identifiers.org/mesh/C537287
property_value: exactMatch http://identifiers.org/omim/201020
property_value: exactMatch http://identifiers.org/snomedct/720600004
property_value: exactMatch Orphanet:65798
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome xsd:anyURI {source="GARD:0002549"}

[Term]
id: MONDO:0008712
name: acrocraniofacial dysostosis
def: "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2 (see these terms). There have been no further descriptions in the literature since 1988." [Orphanet:949]
subset: ordo_malformation_syndrome {source="Orphanet:949"}
synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050]
synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075]
synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949]
xref: GARD:0003075 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:949/attributed", source="ORDO:949/ntbt", source="Orphanet:949"}
xref: MESH:C536892 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201050 {source="MONDO:equivalentTo", source="ORDO:949/e", source="Orphanet:949"}
xref: Orphanet:949 {source="MONDO:equivalentTo", source="OMIM:201050"}
xref: SCTID:720418008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1860145 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:949", source="OMIM:201050"}
is_a: MONDO:0018237 {source="Orphanet:949"} ! acrofacial dysostosis
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:949"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536892
property_value: exactMatch http://identifiers.org/omim/201050
property_value: exactMatch http://identifiers.org/snomedct/720418008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860145
property_value: exactMatch Orphanet:949

[Term]
id: MONDO:0008713
name: acrodermatitis enteropathica
alt_id: MONDO:0023070
def: "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." [Orphanet:37]
subset: gard_rare {source="GARD:0005723"}
subset: ordo_disease {source="Orphanet:37"}
synonym: "acrodermatitis enteropathica zinc deficiency type" RELATED [GARD:0005723]
synonym: "acrodermatitis enteropathica, zinc deficiency type" EXACT [Orphanet:37]
synonym: "acrodermatitis enteropathica, zinc-deficiency type" RELATED [MONDO:Lexical, OMIM:201100]
synonym: "acrodermatitis enteropathica, zinc-deficiency type; AEZ" RELATED [OMIM:201100]
synonym: "ae" RELATED [GARD:0005723]
synonym: "AEZ" EXACT [MONDO:Lexical, OMIM:201100, Orphanet:37]
synonym: "Brandt syndrome" RELATED [GARD:0005723]
synonym: "Danbolt-Cross syndrome" RELATED [GARD:0005723]
synonym: "enteropathica" RELATED [GARD:0006343]
synonym: "inherited zinc deficiency" EXACT [Orphanet:37]
xref: DOID:0050605 {source="MONDO:equivalentTo"}
xref: GARD:0005723 {source="MONDO:equivalentTo"}
xref: GARD:0006343 {source="MONDO:equivalentTo"}
xref: ICD10:E83.2 {source="ORDO:37/ntbt", source="Orphanet:37", source="ORDO:37/inclusion"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538178 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128802 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:201100 {source="ORDO:37/e", source="MONDO:equivalentTo", source="Orphanet:37", source="DOID:0050605"}
xref: Orphanet:37 {source="OMIM:201100", source="MONDO:equivalentTo"}
xref: SCTID:37702000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.89"}
xref: UMLS:C0221036 {source="OMIM:201100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:37", source="NCIT:C128802"}
is_a: MONDO:0004689 {source="DOID:0050605"} ! inborn metal metabolism disorder
is_a: MONDO:0015180 {source="Orphanet:37"} ! intestinal disease due to fat malabsorption
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017764 {source="Orphanet:37", source="linkedlifedata"} ! disorder of zinc metabolism
is_a: MONDO:0019252 {source="Orphanet:37"} ! other metabolic disease with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0050605
property_value: exactMatch http://identifiers.org/mesh/C538178
property_value: exactMatch http://identifiers.org/omim/201100
property_value: exactMatch http://identifiers.org/snomedct/37702000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221036
property_value: exactMatch NCIT:C128802
property_value: exactMatch Orphanet:37
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica xsd:anyURI {source="GARD:0005723"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6343/enteropathica xsd:anyURI {source="GARD:0006343"}

[Term]
id: MONDO:0008714
name: acrofacial dysostosis Rodriguez type
def: "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type]
subset: gard_rare {source="GARD:0000496"}
subset: ordo_malformation_syndrome {source="Orphanet:1788"}
synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [OMIM:201170]
synonym: "acrofacial dysostosis, Rodríguez type" RELATED [Orphanet:1788]
synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383]
synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170]
xref: DOID:0060383 {source="MONDO:equivalentTo"}
xref: GARD:0000496 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.4 {source="ORDO:1788/attributed", source="ORDO:1788/ntbt", source="Orphanet:1788"}
xref: MESH:C538183 {source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="MONDO:ontobio", source="DOID:0060383"}
xref: OMIM:201170 {source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="DOID:0060383"}
xref: Orphanet:1788 {source="MONDO:equivalentTo", source="DOID:0060383", source="OMIM:201170"}
xref: SCTID:720430002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1860119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="DOID:0060383", source="OMIM:201170"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1788", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1788"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:1788"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="DC-OMIM:201170", source="DOID:0060383", source="Orphanet:1788"} ! acrofacial dysostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060383
property_value: exactMatch http://identifiers.org/mesh/C538183
property_value: exactMatch http://identifiers.org/omim/201170
property_value: exactMatch http://identifiers.org/snomedct/720430002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860119
property_value: exactMatch Orphanet:1788
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type xsd:anyURI {source="GARD:0000496"}

[Term]
id: MONDO:0008715
name: acrofrontofacionasal dysostosis
def: "Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." [Orphanet:1784]
subset: ordo_malformation_syndrome {source="Orphanet:1784"}
synonym: "acro fronto facio nasal dysostosis" RELATED [GARD:0000484]
synonym: "acrofrontofacionasal dysostosis 1" RELATED [OMIM:201180]
synonym: "acrofrontofacionasal dysostosis syndrome" RELATED [GARD:0000484]
synonym: "acrofrontofacionasal dysostosis type 1" EXACT [MONDORULE:1, OMIM:201180]
synonym: "AFFN dysostosis" EXACT [DOID:0060226]
synonym: "Affn dysostosis 1" RELATED [OMIM:201180]
synonym: "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly" RELATED [OMIM:201180]
synonym: "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate" RELATED [GARD:0000484]
synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [OMIM:201180]
synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784]
xref: DOID:0060226 {source="MONDO:equivalentTo"}
xref: GARD:0000484 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.1 {source="Orphanet:1784", source="ORDO:1784/attributed", source="ORDO:1784/ntbt"}
xref: MESH:C538186 {source="DOID:0060226", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201180 {source="ORDO:1784/e", source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo"}
xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"}
xref: SCTID:720408003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1860118 {source="ORDO:1784/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"}
is_a: MONDO:0018237 {source="Orphanet:1784"} ! acrofacial dysostosis
property_value: exactMatch DOID:0060226
property_value: exactMatch http://identifiers.org/mesh/C538186
property_value: exactMatch http://identifiers.org/omim/201180
property_value: exactMatch http://identifiers.org/snomedct/720408003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860118
property_value: exactMatch Orphanet:1784

[Term]
id: MONDO:0008716
name: acrogeria
def: "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." [https://en.wikipedia.org/wiki/Acrogeria]
subset: ordo_malformation_syndrome {source="Orphanet:2500"}
synonym: "acrogeria, Gottron type" EXACT [Orphanet:2500]
synonym: "acrogeria, Gottron type" RELATED [OMIM:201200]
synonym: "acrometageria" EXACT [OMIM:201200, Orphanet:2500]
synonym: "familial acrogeria" RELATED [GARD:0006543]
synonym: "Gottron syndrome" EXACT [Orphanet:2500]
synonym: "Metageria" RELATED [OMIM:201200]
xref: GARD:0006543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L90.8 {source="Orphanet:2500", source="ORDO:2500/attributed", source="ORDO:2500/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538187 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201200 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo"}
xref: Orphanet:2500 {source="MONDO:equivalentTo", source="OMIM:201200"}
xref: SCTID:238872007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.20"}
xref: UMLS:C0238590 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo"}
xref: UMLS:C0406584 {source="Orphanet:2500", source="NCBI:mim2gene_medline", source="ORDO:2500/e", source="MONDO:equivalentTo", source="OMIM:201200", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019303 {source="Orphanet:2500"} ! premature aging syndrome
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C538187
property_value: exactMatch http://identifiers.org/omim/201200
property_value: exactMatch http://identifiers.org/snomedct/238872007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406584
property_value: exactMatch Orphanet:2500

[Term]
id: MONDO:0008717
name: acromesomelic dysplasia, Hunter-Thompson type
def: "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal." [Orphanet:968]
subset: ordo_malformation_syndrome {source="Orphanet:968"}
synonym: "acromesomelic dwarfism" EXACT [DOID:0080051, Orphanet:968]
synonym: "acromesomelic dysplasia Hunter Thompson type" RELATED [GARD:0000506]
synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, OMIM:201250]
synonym: "acromesomelic dysplasia, Hunter-Thompson type; AMDH" RELATED [OMIM:201250]
synonym: "AMDH" RELATED [MONDO:Lexical, OMIM:201250]
xref: DOID:0080051 {source="MONDO:equivalentTo"}
xref: GARD:0000506 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:968/attributed", source="ORDO:968/ntbt", source="Orphanet:968"}
xref: OMIM:201250 {source="ORDO:968/e", source="MONDO:equivalentTo", source="Orphanet:968", source="DOID:0080051"}
xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"}
is_a: MONDO:0019696 {source="DC-OMIM:201250", source="DOID:0080051", source="OMIM:201250", source="Orphanet:968"} ! acromesomelic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930970
property_value: exactMatch DOID:0080051
property_value: exactMatch http://identifiers.org/omim/201250
property_value: exactMatch Orphanet:968

[Term]
id: MONDO:0008718
name: Morvan syndrome
def: "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." [Orphanet:83467]
subset: ordo_disease {source="Orphanet:83467"}
synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" EXACT [Orphanet:83467]
synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467]
xref: EFO:1001897 {source="MONDO:equivalentTo"}
xref: GARD:0009766 {source="MONDO:equivalentTo"}
xref: ICD10:G60.8 {source="Orphanet:83467", source="ORDO:83467/ntbt"}
xref: Orphanet:83467 {source="MONDO:equivalentTo"}
xref: SCTID:763803004 {source="MONDO:equivalentTo"}
xref: UMLS:C0751540 {source="ORDO:83467/e", source="MONDO:equivalentTo", source="Orphanet:83467"}
is_a: MONDO:0015657 {source="Orphanet:83467"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0016375 {source="Orphanet:83467"} ! acquired peripheral movement disorder
is_a: MONDO:0019119 {source="EFO:1001897", source="Orphanet:83467"} ! muscular channelopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3854373
property_value: exactMatch http://identifiers.org/snomedct/763803004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751540
property_value: exactMatch Orphanet:83467

[Term]
id: MONDO:0008719
name: acrorenal syndrome, autosomal recessive
def: "Autosomal recessive form of acrorenal syndrome." [MONDO:patterns/autosomal_recessive]
synonym: "acrorenal syndrome autosomal recessive" RELATED [GARD:0000514]
synonym: "acrorenal syndrome recessive" RELATED [GARD:0000514]
synonym: "acrorenal syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:201310]
synonym: "autosomal recessive acrorenal syndrome" EXACT [MONDO:design_pattern]
synonym: "Curran syndrome" RELATED [GARD:0000514]
xref: GARD:0000514 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535666 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201310 {source="MONDO:equivalentTo"}
xref: UMLS:C0796290 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:201310"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0007059 {source="MONDO:Redundant", source="ORDO:971/btnt"} ! acrorenal syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860089
property_value: exactMatch http://identifiers.org/mesh/C535666
property_value: exactMatch http://identifiers.org/omim/201310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796290

[Term]
id: MONDO:0008720
name: congenital isolated adrenocorticotropic hormone deficiency (disease)
def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [DOID:0080150, https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency, PMID:27041067]
subset: ordo_disease {source="Orphanet:199296"}
synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400]
synonym: "ACTH deficiency, isolated; IAD" RELATED [OMIM:201400]
synonym: "adrenocorticotropic hormone deficiency" EXACT [MONDO:ambiguous, OMIM:201400]
synonym: "congenital isolated ACTH deficiency" RELATED [Orphanet:199296]
synonym: "IAD" RELATED [MONDO:Lexical, OMIM:201400]
synonym: "isolated ACTH deficiency" RELATED [GARD:0005727]
synonym: "isolated adrenocorticotropic hormone deficiency" RELATED [GARD:0005727]
xref: DOID:0080150 {source="MONDO:equivalentTo"}
xref: EFO:1001979 {source="MONDO:equivalentTo"}
xref: GARD:0005727 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0011748 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E23.6 {source="Orphanet:199296", source="ORDO:199296/attributed", source="ORDO:199296/ntbt"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535668 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:201400 {source="Orphanet:199296", source="MONDO:equivalentTo", source="DOID:0080150", source="ORDO:199296/e"}
xref: Orphanet:199296 {source="MONDO:equivalentTo", source="OMIM:201400"}
xref: SCTID:237692001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.53"}
xref: UMLS:C0342388 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:201400"}
is_a: MONDO:0005152 {source="DOID:0080150", source="EFO:1001979", source="MONDO:Redundant", source="linkedlifedata"} ! hypopituitarism
is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:199296", source="indirect"} ! non-acquired pituitary hormone deficiency
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271583
property_value: exactMatch DOID:0080150
property_value: exactMatch http://identifiers.org/mesh/C535668
property_value: exactMatch http://identifiers.org/omim/201400
property_value: exactMatch http://identifiers.org/snomedct/237692001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342388
property_value: exactMatch Orphanet:199296

[Term]
id: MONDO:0008721
name: medium chain acyl-CoA dehydrogenase deficiency
def: "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." [Orphanet:42]
subset: clingen
subset: ordo_disease {source="Orphanet:42"}
synonym: "ACADM deficiency" EXACT [OMIM:201450, Orphanet:42]
synonym: "ACADMD" RELATED [MONDO:Lexical, OMIM:201450]
synonym: "acyl-CoA dehydrogenase medium chain deficiency of" RELATED [GARD:0000540]
synonym: "acyl-CoA dehydrogenase, medium-chain deficiency" EXACT [NCIT:C84538]
synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201450]
synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF; ACADMD" RELATED [OMIM:201450]
synonym: "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" EXACT [Orphanet:42]
synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201450]
synonym: "MCAD" EXACT [NCIT:C84538]
synonym: "MCAD deficiency" EXACT [OMIM:201450, Orphanet:42]
synonym: "MCADD" EXACT [Orphanet:42]
synonym: "Mcadh deficiency" RELATED [OMIM:201450]
synonym: "medium chain acyl CoA dehydrogenase deficiency" RELATED [GARD:0000540]
synonym: "medium chain acyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:42]
synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538]
synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538]
xref: DOID:0080153 {source="MONDO:equivalentTo"}
xref: GARD:0000540 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="Orphanet:42", source="ORDO:42/attributed", source="ORDO:42/ntbt"}
xref: ICD10:E71.311 {source="MONDO:equivalentTo"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:42/e"}
xref: NCIT:C84538 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: OMIM:201450 {source="Orphanet:42", source="DOID:0080153", source="MONDO:equivalentTo", source="ORDO:42/e"}
xref: Orphanet:42 {source="OMIM:201450", source="MONDO:equivalentTo"}
xref: SCTID:128596003 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0220710 {source="Orphanet:42", source="OMIM:201450", source="NCBI:mim2gene_medline", source="NCIT:C84538", source="MONDO:equivalentTo", source="ORDO:42/e"}
is_a: MONDO:0017714 {source="Orphanet:42", source="linkedlifedata"} ! acyl-CoA dehydrogenase deficiency
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0080153
property_value: exactMatch http://identifiers.org/mesh/C536038
property_value: exactMatch http://identifiers.org/omim/201450
property_value: exactMatch http://identifiers.org/snomedct/128596003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220710
property_value: exactMatch NCIT:C84538
property_value: exactMatch Orphanet:42

[Term]
id: MONDO:0008722
name: short chain acyl-CoA dehydrogenase deficiency
def: "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." [Orphanet:26792]
subset: clingen
subset: gard_rare {source="GARD:0004822"}
subset: ordo_disease {source="Orphanet:26792"}
synonym: "ACADS deficiency" EXACT [Orphanet:26792]
synonym: "Acads deficiency" RELATED [OMIM:201470]
synonym: "ACADSD" RELATED [MONDO:Lexical, OMIM:201470]
synonym: "acyl-CoA dehydrogenase, short-chain deficiency" EXACT [NCIT:C84539]
synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201470]
synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF; ACADSD" RELATED [OMIM:201470]
synonym: "lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201470]
synonym: "SCAD" EXACT [NCIT:C84539]
synonym: "SCAD deficiency" EXACT [Orphanet:26792]
synonym: "Scad deficiency" RELATED [OMIM:201470]
synonym: "SCADD" EXACT [Orphanet:26792]
synonym: "Scadh deficiency" RELATED [OMIM:201470]
synonym: "short-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0004822]
synonym: "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539]
synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:0004822]
synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539]
xref: DOID:0080154 {source="MONDO:equivalentTo"}
xref: GARD:0004822 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="ORDO:26792/attributed", source="ORDO:26792/ntbt", source="Orphanet:26792"}
xref: ICD10:E71.312 {source="MONDO:equivalentTo"}
xref: MESH:C537596 {source="ORDO:26792/e", source="MONDO:equivalentTo", source="Orphanet:26792", source="MONDO:ontobio"}
xref: NCIT:C84539 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.55"}
xref: OMIM:201470 {source="DOID:0080154", source="ORDO:26792/e", source="MONDO:equivalentTo", source="Orphanet:26792"}
xref: Orphanet:26792 {source="OMIM:201470", source="MONDO:equivalentTo"}
is_a: MONDO:0016117 {source="Orphanet:26792"} ! muscular lipidosis
is_a: MONDO:0017714 {source="Orphanet:26792"} ! acyl-CoA dehydrogenase deficiency
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342783
property_value: exactMatch DOID:0080154
property_value: exactMatch http://identifiers.org/mesh/C537596
property_value: exactMatch http://identifiers.org/omim/201470
property_value: exactMatch NCIT:C84539
property_value: exactMatch Orphanet:26792
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0004822"}

[Term]
id: MONDO:0008723
name: very long chain acyl-CoA dehydrogenase deficiency
def: "Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." [Orphanet:26793]
subset: clingen
subset: ordo_disease {source="Orphanet:26793"}
synonym: "ACADVLD" RELATED [MONDO:Lexical, OMIM:201475]
synonym: "acyl-CoA dehydrogenase, very long-chain deficiency" EXACT [NCIT:C98647]
synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201475]
synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF; ACADVLD" RELATED [OMIM:201475]
synonym: "very long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C98647]
synonym: "very long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C98647]
synonym: "VLCAD" EXACT [NCIT:C98647]
synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793]
synonym: "VLCADD" EXACT [Orphanet:26793]
xref: DOID:0080155 {source="MONDO:equivalentTo"}
xref: GARD:0005508 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.3 {source="ORDO:26793/attributed", source="ORDO:26793/ntbt", source="Orphanet:26793"}
xref: ICD10:E71.310 {source="MONDO:equivalentTo"}
xref: NCIT:C98647 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="ORDO:26793/e", source="Orphanet:26793"}
xref: Orphanet:26793 {source="MONDO:equivalentTo", source="OMIM:201475"}
xref: SCTID:237997005 {source="MONDO:equivalentTo"}
xref: UMLS:C3887523 {source="NCIT:C98647", source="MONDO:equivalentTo", source="Orphanet:26793"}
is_a: MONDO:0020531 ! long chain acyl-CoA dehydrogenase deficiency
property_value: exactMatch DOID:0080155
property_value: exactMatch http://identifiers.org/omim/201475
property_value: exactMatch http://identifiers.org/snomedct/237997005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887523
property_value: exactMatch NCIT:C98647
property_value: exactMatch Orphanet:26793

[Term]
id: MONDO:0008724
name: adducted thumbs-arthrogryposis syndrome, Christian type
def: "Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." [Orphanet:2952]
subset: ordo_malformation_syndrome {source="Orphanet:2952"}
synonym: "adducted thumbs syndrome" RELATED [OMIM:201550]
xref: ICD10:Q74.8 {source="ORDO:2952/attributed", source="ORDO:2952/ntbt", source="Orphanet:2952"}
xref: OMIM:201550 {source="ORDO:2952/e", source="MONDO:equivalentTo", source="Orphanet:2952"}
xref: Orphanet:2952 {source="OMIM:201550", source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:2952"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015501 {source="Orphanet:2952"} ! syndrome or malformation associated with head and neck malformations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431886
property_value: exactMatch http://identifiers.org/omim/201550
property_value: exactMatch Orphanet:2952

[Term]
id: MONDO:0008725
name: congenital lipoid adrenal hyperplasia due to STAR deficency
def: "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." [Orphanet:90790]
subset: ordo_disease {source="Orphanet:90790"}
synonym: "adrenal hyperplasia 1" RELATED [OMIM:201710]
synonym: "CLAH" EXACT [Orphanet:90790]
synonym: "congenital adrenal hyperplasia lipoid" RELATED [GARD:0001465]
synonym: "LCAH" RELATED [MONDO:Lexical, OMIM:201710]
synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710]
synonym: "lipoid congenital adrenal hyperplasia; LCAH" RELATED [OMIM:201710]
synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710]
xref: GARD:0001465 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25.0 {source="Orphanet:90790", source="ORDO:90790/attributed", source="ORDO:90790/ntbt"}
xref: OMIM:201710 {source="ORDO:90790/e", source="Orphanet:90790", source="MONDO:equivalentTo"}
xref: Orphanet:90790 {source="MONDO:equivalentTo", source="OMIM:201710"}
xref: SCTID:44231009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C0342474 {source="ORDO:90790/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:90790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:201710"}
is_a: MONDO:0018412 {source="Orphanet:90790"} ! rare female infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018479 {source="MONDOLEX:0008725", source="Orphanet:90790", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital adrenal hyperplasia
is_a: MONDO:0019595 {source="Orphanet:90790"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure
property_value: exactMatch http://identifiers.org/mesh/C537027
property_value: exactMatch http://identifiers.org/omim/201710
property_value: exactMatch http://identifiers.org/snomedct/44231009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342474
property_value: exactMatch Orphanet:90790

[Term]
id: MONDO:0008726
name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
synonym: "ABS1" RELATED [MONDO:Lexical, OMIM:201750]
synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" EXACT [MONDO:Lexical, OMIM:201750]
synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; ABS1" RELATED [OMIM:201750]
synonym: "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis" EXACT [Orphanet:63269]
xref: OMIM:201750 {source="MONDO:equivalentTo"}
xref: Orphanet:63269 {source="MONDO:equivalentTo", source="OMIM:201750"}
xref: UMLS:C3150099 {source="MONDO:equivalentTo", source="OMIM:201750"}
is_a: MONDO:0008803 ! Antley-Bixler syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860042
property_value: exactMatch http://identifiers.org/omim/201750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150099
property_value: exactMatch Orphanet:63269

[Term]
id: MONDO:0008727
name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
def: "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." [Orphanet:90791]
subset: ordo_disease {source="Orphanet:90791"}
synonym: "3-beta HSD deficiency" EXACT [NCIT:C131088]
synonym: "3-Beta-HSD deficiency" RELATED [OMIM:201810]
synonym: "3-Beta-hydroxysteroid dehydrogenase deficiency" RELATED [OMIM:201810]
synonym: "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" RELATED [OMIM:201810]
synonym: "3b-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152]
synonym: "adrenal hyperplasia 2" RELATED [OMIM:201810]
synonym: "adrenal hyperplasia II" RELATED [GARD:0009152]
synonym: "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810]
synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810]
synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orphanet:90791]
synonym: "HSD3B deficiency" RELATED [GARD:0009152]
synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152]
xref: GARD:0009152 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25.0 {source="Orphanet:90791", source="ORDO:90791/attributed", source="ORDO:90791/ntbt"}
xref: MESH:C538236 {source="MONDO:equivalentTo"}
xref: NCIT:C131088 {source="MONDO:equivalentTo"}
xref: OMIM:201810 {source="ORDO:90791/e", source="Orphanet:90791", source="MONDO:equivalentTo"}
xref: Orphanet:90791 {source="MONDO:equivalentTo", source="OMIM:201810"}
xref: SCTID:54470008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0018479 {source="MESH:C538236", source="MONDO:Redundant", source="MONDOLEX:0008727", source="Orphanet:90791"} ! congenital adrenal hyperplasia
is_a: MONDO:0019593 {source="Orphanet:90791"} ! 46,XX disorder of sex development induced by fetal androgens excess
is_a: MONDO:0019595 {source="Orphanet:90791"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342471
property_value: exactMatch http://identifiers.org/mesh/C538236
property_value: exactMatch http://identifiers.org/omim/201810
property_value: exactMatch http://identifiers.org/snomedct/54470008
property_value: exactMatch NCIT:C131088
property_value: exactMatch Orphanet:90791

[Term]
id: MONDO:0008728
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
def: "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." [Orphanet:90794]
subset: gard_rare
subset: ordo_disease {source="Orphanet:90794"}
synonym: "21 hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "21-hydroxylase deficiency" RELATED [OMIM:201910]
synonym: "21-OHD" EXACT [NCIT:C131087]
synonym: "adrenal hyperplasia 3" RELATED [OMIM:201910]
synonym: "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency" RELATED [OMIM:201910]
synonym: "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "classic 21-OHD CAH" EXACT [Orphanet:90794]
synonym: "congenital adrenal hyperplasia 1" RELATED [OMIM:201910]
synonym: "congenital adrenal hyperplasia due to 21-hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910]
synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910]
xref: GARD:0005757 {source="MONDO:equivalentTo"}
xref: GARD:0012665 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25.0 {source="ORDO:90794/attributed", source="ORDO:90794/ntbt", source="Orphanet:90794"}
xref: NCIT:C131087 {source="MONDO:equivalentTo"}
xref: OMIM:201910 {source="GARD:0005757", source="ORDO:90794/e", source="MONDO:equivalentTo", source="Orphanet:90794"}
xref: Orphanet:90794 {source="MONDO:equivalentTo", source="OMIM:201910"}
xref: SCTID:124221007 {source="MONDO:equivalentTo"}
xref: SCTID:717261006 {source="MONDO:kboom-pr-0.92/0.83/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C4273964 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018387 {source="Orphanet:90794"} ! rare male infertility due to adrenal disorder
is_a: MONDO:0018406 {source="MONDO:Redundant", source="Orphanet:90794"} ! rare male infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018412 {source="MONDO:Redundant", source="Orphanet:90794"} ! rare female infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018479 {source="MONDOLEX:0008728", source="Orphanet:90794", source="linkedlifedata"} ! congenital adrenal hyperplasia
is_a: MONDO:0019593 {source="Orphanet:90794"} ! 46,XX disorder of sex development induced by fetal androgens excess
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0852654
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859995
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936858
property_value: closeMatch Orphanet:95698
property_value: exactMatch http://identifiers.org/omim/201910
property_value: exactMatch http://identifiers.org/snomedct/124221007
property_value: exactMatch http://identifiers.org/snomedct/717261006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273964
property_value: exactMatch NCIT:C131087
property_value: exactMatch Orphanet:90794

[Term]
id: MONDO:0008729
name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
def: "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." [Orphanet:90795]
subset: ordo_disease {source="Orphanet:90795"}
synonym: "11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia 4" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia hypertensive form" RELATED [GARD:0005658]
synonym: "adrenal hyperplasia IV" RELATED [GARD:0005658]
synonym: "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia, hypertensive form" RELATED [OMIM:202010]
synonym: "CAH due to 11-beta-hydroxylase deficiency" EXACT [Orphanet:90795]
synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795]
synonym: "P450C11B1 deficiency" RELATED [OMIM:202010]
synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010]
xref: GARD:0005658 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25.0 {source="ORDO:90795/attributed", source="ORDO:90795/ntbt", source="Orphanet:90795"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10000002 {source="ORDO:90795/e", source="Orphanet:90795"}
xref: MESH:C535978 {source="ORDO:90795/e", source="MONDO:equivalentTo", source="Orphanet:90795", source="MONDO:ontobio"}
xref: NCIT:C131085 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
xref: OMIM:202010 {source="ORDO:90795/e", source="MONDO:equivalentTo", source="Orphanet:90795"}
xref: Orphanet:90795 {source="OMIM:202010", source="MONDO:equivalentTo"}
xref: SCTID:124214007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.66"}
xref: UMLS:C0268292 {source="OMIM:202010", source="ORDO:90795/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131085", source="Orphanet:90795"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018479 {source="MESH:C535978", source="MONDOLEX:0008729", source="Orphanet:90795", source="linkedlifedata"} ! congenital adrenal hyperplasia
is_a: MONDO:0019593 {source="Orphanet:90795"} ! 46,XX disorder of sex development induced by fetal androgens excess
property_value: exactMatch http://identifiers.org/meddra/10000002
property_value: exactMatch http://identifiers.org/mesh/C535978
property_value: exactMatch http://identifiers.org/omim/202010
property_value: exactMatch http://identifiers.org/snomedct/124214007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268292
property_value: exactMatch NCIT:C131085
property_value: exactMatch Orphanet:90795

[Term]
id: MONDO:0008730
name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
def: "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." [Orphanet:90793]
subset: ordo_disease {source="Orphanet:90793"}
synonym: "17,20-lyase deficiency, isolated" RELATED [OMIM:202110]
synonym: "17-Alpha-Hydroxylase deficiency" RELATED [OMIM:202110]
synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" RELATED [OMIM:202110]
synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial" RELATED [OMIM:202110]
synonym: "adrenal hyperplasia 5" RELATED [OMIM:202110]
synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency" RELATED [OMIM:202110]
synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793]
synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793]
synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469]
xref: GARD:0001469 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25.0 {source="Orphanet:90793", source="ORDO:90793/attributed", source="ORDO:90793/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:202110 {source="ORDO:90793/e", source="MONDO:equivalentTo", source="Orphanet:90793"}
xref: Orphanet:90793 {source="OMIM:202110", source="MONDO:equivalentTo"}
xref: SCTID:124220008 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0018387 {source="Orphanet:90793"} ! rare male infertility due to adrenal disorder
is_a: MONDO:0018406 {source="MONDO:Redundant", source="Orphanet:90793"} ! rare male infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018412 {source="MONDO:Redundant", source="Orphanet:90793"} ! rare female infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018479 {source="MONDOLEX:0008730", source="Orphanet:90793", source="linkedlifedata"} ! congenital adrenal hyperplasia
is_a: MONDO:0019595 {source="Orphanet:90793"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
is_a: MONDO:0019852 {source="Orphanet:90793"} ! inherited primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268285
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277849
property_value: exactMatch http://identifiers.org/omim/202110
property_value: exactMatch http://identifiers.org/snomedct/124220008
property_value: exactMatch Orphanet:90793

[Term]
id: MONDO:0008731
name: familial adrenal hypoplasia with absent pituitary luteinizing hormone
subset: ordo_disease {source="Orphanet:95700"}
synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150]
synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700]
synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700]
xref: ICD10:E27.1 {source="ORDO:95700/attributed", source="ORDO:95700/ntbt", source="Orphanet:95700"}
xref: MESH:C565976 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:202150 {source="ORDO:95700/e", source="MONDO:equivalentTo", source="Orphanet:95700"}
xref: Orphanet:95700 {source="MONDO:equivalentTo", source="OMIM:202150"}
xref: UMLS:C1859978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95700", source="MEDGEN:kboom-pr92-c96", source="OMIM:202150"}
is_a: MONDO:0015129 {source="Orphanet:95700", source="Orphanet:95700/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015891 {source="Orphanet:95700"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0020042 {source="Orphanet:95700"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C565976
property_value: exactMatch http://identifiers.org/omim/202150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859978
property_value: exactMatch Orphanet:95700

[Term]
id: MONDO:0008732
name: adrenal hypoplasia, cytomegalic type
synonym: "adrenal hypoplasia, cytomegalic type" EXACT [OMIM:202155]
xref: OMIM:202155 {source="MONDO:equivalentTo"}
xref: UMLS:C1859977 {source="NCBI:mim2gene_medline", source="OMIM:202155", source="MONDO:equivalentTo"}
is_a: MONDO:0010264 {source="ORDO:95702/btnt"} ! X-linked adrenal hypoplasia congenita
property_value: exactMatch http://identifiers.org/omim/202155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859977

[Term]
id: MONDO:0008733
name: familial glucocorticoid deficiency
def: "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." [Orphanet:361]
subset: gard_rare {source="GARD:0002498"}
subset: ordo_disease {source="Orphanet:361"}
synonym: "GCCD" RELATED [MONDO:Lexical, OMIM:202200]
synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200]
xref: GARD:0002498 {source="MONDO:equivalentTo"}
xref: ICD10:E27.1 {source="ORDO:361/attributed", source="ORDO:361/ntbt", source="Orphanet:361"}
xref: MESH:C565974 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:202200 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:202200", source="MONDO:equivalentTo"}
xref: SCTID:765326001 {source="MONDO:equivalentTo"}
xref: UMLS:CN204661 {source="MONDO:equivalentTo"}
is_a: MONDO:0015129 {source="Orphanet:361", source="Orphanet:361/inferred"} ! chronic primary adrenal insufficiency
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C565974
property_value: exactMatch http://identifiers.org/snomedct/765326001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204661
property_value: exactMatch Orphanet:361
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency xsd:anyURI {source="GARD:0002498"}

[Term]
id: MONDO:0008734
name: adrenocortical carcinoma, hereditary
def: "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "ADCC" RELATED [MONDO:Lexical, OMIM:202300]
synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300]
synonym: "adrenocortical carcinoma, hereditary; ADCC" RELATED [OMIM:202300]
synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300]
synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary]
xref: OMIM:202300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202300"}
is_a: MONDO:0003008 ! hereditary renal cell carcinoma
is_a: MONDO:0006639 {source="MONDO:Redundant", source="MONDOLEX:0008734", source="ORDO:1501/btnt"} ! adrenal cortex carcinoma
is_a: MONDO:0018729 ! genetic vascular tumor
intersection_of: MONDO:0006639 ! adrenal cortex carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859973
property_value: exactMatch http://identifiers.org/omim/202300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859972

[Term]
id: MONDO:0008735
name: adrenocortical unresponsiveness to ACTH with postreceptor defect
synonym: "adrenocortical unresponsiveness to ACTH with postreceptor defect" EXACT [OMIM:202355]
synonym: "familial glucocorticoid deficiency due to defect distal to ACTH receptor" RELATED [OMIM:202355]
xref: MESH:C565971 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:202355 {source="MONDO:equivalentTo"}
xref: UMLS:C1859971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202355"}
is_a: MONDO:0008733 {source="ORDO:361/btnt"} ! familial glucocorticoid deficiency
property_value: exactMatch http://identifiers.org/mesh/C565971
property_value: exactMatch http://identifiers.org/omim/202355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859971

[Term]
id: MONDO:0008736
name: peroxisome biogenesis disorder 2B
synonym: "PBD2B" RELATED [MONDO:Lexical, OMIM:202370]
synonym: "peroxisome biogenesis disorder 2B" EXACT [MONDO:Lexical, OMIM:202370]
synonym: "peroxisome biogenesis disorder 2B; PBD2B" RELATED [OMIM:202370]
synonym: "peroxisome biogenesis disorder type 2B" EXACT [MONDORULE:4, OMIM:202370]
xref: OMIM:202370 {source="MONDO:equivalentTo"}
xref: UMLS:C3550234 {source="MONDO:equivalentTo", source="OMIM:202370"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/202370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550234

[Term]
id: MONDO:0008737
name: congenital afibrinogenemia
def: "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." [Orphanet:98880]
subset: ordo_clinical_subtype {source="Orphanet:98880"}
synonym: "afibrinogenemia" RELATED [GARD:0005761]
synonym: "afibrinogenemia congenital" RELATED [GARD:0005761]
synonym: "afibrinogenemia, congenital" RELATED [OMIM:202400]
synonym: "factor I deficiency" NARROW [DOID:2236]
synonym: "familial afibrinogenemia" RELATED [Orphanet:98880]
synonym: "fibrinogen deficiency" EXACT [DOID:2236]
synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400]
xref: DOID:2236 {source="MONDO:equivalentTo"}
xref: GARD:0005761 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D68.2 {source="ORDO:98880/attributed", source="ORDO:98880/ntbt", source="DOID:2236", source="Orphanet:98880"}
xref: MESH:D000347 {source="MONDO:equivalentTo", source="DOID:2236", source="MONDO:ontobio"}
xref: NCIT:C98130 {source="MONDO:equivalentTo", source="DOID:2236"}
xref: OMIM:202400 {source="MONDO:equivalentTo", source="DOID:2236", source="ORDO:98880/e", source="Orphanet:98880"}
xref: Orphanet:98880 {source="MONDO:equivalentTo", source="OMIM:202400"}
xref: SCTID:154818001 {source="MONDO:equivalentTo"}
is_a: MONDO:0014452 ! familial dysfibrinogenemia
property_value: closeMatch http://identifiers.org/snomedct/278504009
property_value: closeMatch http://identifiers.org/snomedct/29718007
property_value: closeMatch http://identifiers.org/snomedct/359727008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001733
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019250
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272350
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859970
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2584774
property_value: closeMatch NCIT:C26692
property_value: exactMatch DOID:2236
property_value: exactMatch http://identifiers.org/mesh/D000347
property_value: exactMatch http://identifiers.org/omim/202400
property_value: exactMatch http://identifiers.org/snomedct/154818001
property_value: exactMatch NCIT:C98130
property_value: exactMatch Orphanet:98880

[Term]
id: MONDO:0008738
name: aganglionosis, total intestinal
def: "A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease." [NCIT:C101074]
synonym: "aganglionosis, total intestinal" EXACT [OMIM:202550]
synonym: "total intestinal aganglionosis" EXACT [NCIT:C101074]
synonym: "total intestinal aganglionosis" RELATED [NCIT:C101074]
xref: NCIT:C101074 {source="MONDO:kboom-pr-0.68/0.31/0.23", source="MONDO:equivalentTo"}
xref: OMIM:202550 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018309 {source="NCIT:C101074"} ! Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345240
property_value: exactMatch http://identifiers.org/omim/202550
property_value: exactMatch NCIT:C101074

[Term]
id: MONDO:0008739
name: agenesis of cerebral white matter
synonym: "agenesis of cerebral white matter" EXACT [OMIM:202600]
xref: OMIM:202600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859969
property_value: exactMatch http://identifiers.org/omim/202600

[Term]
id: MONDO:0008740
name: agnathia-otocephaly complex
def: "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." [Orphanet:990]
subset: ordo_malformation_syndrome {source="Orphanet:990"}
synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126]
synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, ORDO:990]
synonym: "agnathia-otocephaly complex" EXACT [MONDO:Lexical, OMIM:202650]
synonym: "agnathia-otocephaly complex; AGOTC" RELATED [OMIM:202650]
synonym: "AGOTC" RELATED [MONDO:Lexical, OMIM:202650]
synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [OMIM:202650]
synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [DOID:0060341, OMIM:202650]
synonym: "holoprosencephaly-agnathia" EXACT [DOID:0060341, OMIM:202650]
synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650]
xref: DOID:0060341 {source="MONDO:equivalentTo"}
xref: GARD:0009126 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q18.2 {source="DOID:0060341"}
xref: ICD10:Q87.8 {source="ORDO:990/attributed", source="ORDO:990/ntbt", source="Orphanet:990"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C124568 {source="MONDO:equivalentTo"}
xref: OMIM:202650 {source="DOID:0060341", source="MONDO:equivalentTo", source="ORDO:990/e", source="Orphanet:990"}
xref: Orphanet:990 {source="DOID:0060341", source="OMIM:202650", source="MONDO:equivalentTo"}
xref: SCTID:48180002 {source="MONDO:kboom-pr-0.71/0.41/0.07", source="MONDO:equivalentTo"}
xref: UMLS:CN207252 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:990", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:990"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265242
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876185
property_value: exactMatch DOID:0060341
property_value: exactMatch http://identifiers.org/omim/202650
property_value: exactMatch http://identifiers.org/snomedct/48180002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207252
property_value: exactMatch NCIT:C124568
property_value: exactMatch Orphanet:990

[Term]
id: MONDO:0008741
name: PAGOD syndrome
def: "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." [Orphanet:991]
subset: ordo_malformation_syndrome {source="Orphanet:991"}
synonym: "agonadism with multiple internal malformations" RELATED [OMIM:202660]
synonym: "Kennerknecht sorgo Oberhoffer syndrome" RELATED [GARD:0003086]
synonym: "PAGOD syndrome" EXACT [OMIM:202660]
synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086]
synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991]
xref: GARD:0003086 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:991/attributed", source="ORDO:991/ntbt", source="Orphanet:991"}
xref: MESH:C537018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:202660 {source="MONDO:equivalentTo", source="ORDO:991/e", source="Orphanet:991"}
xref: Orphanet:991 {source="OMIM:202660", source="MONDO:equivalentTo"}
xref: SCTID:722132007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1859967 {source="OMIM:202660", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015846 {source="Orphanet:991"} ! syndromic uterovaginal malformation
is_a: MONDO:0015880 {source="Orphanet:991"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0017965 {source="Orphanet:991"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:991"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:991"} ! syndrome with 46,XY disorder of sex development
is_a: MONDO:0043008 {source="Orphanet:991"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537018
property_value: exactMatch http://identifiers.org/omim/202660
property_value: exactMatch http://identifiers.org/snomedct/722132007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859967
property_value: exactMatch Orphanet:991

[Term]
id: MONDO:0008742
name: autosomal dominant severe congenital neutropenia
def: "Autosomal dominant form of severe congenital neutropenia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:0009558"}
subset: ordo_disease {source="Orphanet:486"}
synonym: "severe congenital neutropenia autosomal dominant" RELATED [GARD:0009558]
synonym: "severe congenital neutropenia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:0009558 {source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:486/attributed", source="ORDO:486/ntbt", source="Orphanet:486"}
xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"}
xref: UMLS:C1859966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202700"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018542 {source="DC-OMIM:202700", source="MONDO:Redundant", source="MONDOLEX:0008742", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859966
property_value: exactMatch Orphanet:486
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant xsd:anyURI {source="GARD:0009558"}

[Term]
id: MONDO:0008743
name: Stimmler syndrome
def: "Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." [Orphanet:3199]
subset: ordo_malformation_syndrome {source="Orphanet:3199"}
synonym: "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" RELATED [GARD:0005026]
synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [OMIM:202900]
synonym: "Stimmler syndrome" EXACT [OMIM:202900]
xref: GARD:0005026 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C565968 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="ORDO:3199/e"}
xref: Orphanet:3199 {source="MONDO:equivalentTo", source="OMIM:202900"}
xref: SCTID:733072002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202900"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3199", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565968
property_value: exactMatch http://identifiers.org/omim/202900
property_value: exactMatch http://identifiers.org/snomedct/733072002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859965
property_value: exactMatch Orphanet:3199

[Term]
id: MONDO:0008744
name: alar cartilages hypoplasia-coloboma-telecanthus syndrome
def: "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." [Orphanet:2007]
subset: ordo_malformation_syndrome {source="Orphanet:2007"}
synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:203000]
synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588]
synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000]
xref: GARD:0000588 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:2007/attributed", source="ORDO:2007/ntbt", source="Orphanet:2007"}
xref: MESH:C535967 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="ORDO:2007/e"}
xref: Orphanet:2007 {source="OMIM:203000", source="MONDO:equivalentTo"}
xref: UMLS:C1859964 {source="OMIM:203000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2007", source="ORDO:2007/e"}
is_a: MONDO:0043008 {source="Orphanet:2007"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535967
property_value: exactMatch http://identifiers.org/omim/203000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859964
property_value: exactMatch Orphanet:2007

[Term]
id: MONDO:0008745
name: oculocutaneous albinism type 1A
def: "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." [Orphanet:79431]
subset: ordo_clinical_subtype {source="Orphanet:79431"}
synonym: "albinism 1" RELATED [OMIM:203100]
synonym: "albinism, oculocutaneous, type 1A" RELATED [OMIM:203100]
synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical, OMIM:203100]
synonym: "albinism, oculocutaneous, type IA; OCA1A" RELATED [OMIM:203100]
synonym: "OCA1A" EXACT [DOID:0070094, MONDO:Lexical, OMIM:203100, Orphanet:79431]
synonym: "oculocutaneous albinism caused by mutation in TYR" EXACT []
synonym: "oculocutaneous albinism caused by mutation in Tyr" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type IA" RELATED [DOID:0070094]
synonym: "oculocutaneous albinism, type 1" RELATED [OMIM:203100]
synonym: "oculocutaneous albinism, tyrosinase-negative" EXACT [DOID:0070094, OMIM:203100]
synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern]
synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431]
xref: DOID:0070094 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:79431/attributed", source="ORDO:79431/ntbt", source="Orphanet:79431"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:203100 {source="MONDO:equivalentTo", source="ORDO:79431/e", source="DOID:0070094", source="Orphanet:79431"}
xref: Orphanet:79431 {source="OMIM:203100", source="MONDO:equivalentTo"}
xref: SCTID:6483008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018135 {source="MONDOLEX:0008745", source="Orphanet:79431"} ! oculocutaneous albinism type 1
is_a: MONDO:0040653 ! autosomal recessive ocular albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268494
property_value: exactMatch DOID:0070094
property_value: exactMatch http://identifiers.org/omim/203100
property_value: exactMatch http://identifiers.org/snomedct/6483008
property_value: exactMatch Orphanet:79431

[Term]
id: MONDO:0008746
name: oculocutaneous albinism type 2
def: "Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79432]
subset: gard_rare {source="GARD:0004038"}
subset: ordo_disease {source="Orphanet:79432"}
synonym: "albinism 2" RELATED [OMIM:203200]
synonym: "albinism, Brown oculocutaneous" RELATED [OMIM:203200]
synonym: "albinism, oculocutaneous, type 2" RELATED [GARD:0004038]
synonym: "albinism, oculocutaneous, type II" RELATED [MONDO:Lexical, OMIM:203200]
synonym: "albinism, oculocutaneous, type II; OCA2" RELATED [OMIM:203200]
synonym: "Albinoidism" RELATED [GARD:0004038]
synonym: "Brown oculocutaneous albinism" RELATED [OMIM:203200]
synonym: "OCA2" EXACT [DOID:0070096, MONDO:Lexical, OMIM:203200, Orphanet:79432]
synonym: "oculocutaneous albinism type II" RELATED [DOID:0070096]
synonym: "oculocutaneous albinism tyrosinase positive" RELATED [GARD:0004038]
synonym: "oculocutaneous albinism, type 2" RELATED [OMIM:203200]
synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMIM:203200]
synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038]
xref: DOID:0070096 {source="MONDO:equivalentTo"}
xref: GARD:0004038 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:79432/attributed", source="ORDO:79432/ntbt", source="Orphanet:79432"}
xref: MESH:C537730 {source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432"}
xref: OMIM:203200 {source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432", source="DOID:0070096"}
xref: Orphanet:79432 {source="OMIM:203200", source="MONDO:equivalentTo"}
xref: UMLS:C0268495 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:203200", source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432"}
is_a: MONDO:0018910 {source="DC-OMIM:203200", source="DOID:0070096", source="MESH:C537730", source="OMIM:203200", source="Orphanet:79432"} ! oculocutaneous albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268497
property_value: exactMatch DOID:0070096
property_value: exactMatch http://identifiers.org/mesh/C537730
property_value: exactMatch http://identifiers.org/omim/203200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268495
property_value: exactMatch Orphanet:79432
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 xsd:anyURI {source="GARD:0004038"}

[Term]
id: MONDO:0008747
name: oculocutaneous albinism type 3
def: "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." [Orphanet:79433]
subset: gard_rare
subset: ordo_disease {source="Orphanet:79433"}
synonym: "albinism 3" RELATED [OMIM:203290]
synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039, OMIM:203290]
synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical, OMIM:203290]
synonym: "albinism, oculocutaneous, type III; OCA3" RELATED [OMIM:203290]
synonym: "OCA3" EXACT [DOID:0070097, MONDO:Lexical, OMIM:203290, Orphanet:79433]
synonym: "oculocutaneous albinism caused by mutation in TYRP1" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type III" RELATED [DOID:0070097]
synonym: "oculocutaneous albinism, type 3" RELATED [OMIM:203290]
synonym: "Red oculocutaneous albinism" EXACT [Orphanet:79433]
synonym: "ROCA" RELATED [GARD:0009641]
synonym: "rufous OCA" RELATED [GARD:0009641]
synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, OMIM:203290, Orphanet:79433]
synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290]
synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433]
xref: DOID:0070097 {source="MONDO:equivalentTo"}
xref: GARD:0004039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0009641 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:79433/attributed", source="ORDO:79433/ntbt", source="Orphanet:79433"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537731 {source="MONDO:equivalentTo", source="ORDO:79433/e", source="Orphanet:79433"}
xref: OMIM:203290 {source="DOID:0070097", source="MONDO:equivalentTo", source="ORDO:79433/e", source="Orphanet:79433"}
xref: Orphanet:79433 {source="MONDO:equivalentTo", source="OMIM:203290"}
xref: SCTID:63450009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.83"}
is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="MONDO:Redundant", source="OMIM:203290", source="Orphanet:79433", source="linkedlifedata", source="linkedlifedata/inferred"} ! oculocutaneous albinism
property_value: closeMatch http://identifiers.org/omim/278400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859932
property_value: exactMatch DOID:0070097
property_value: exactMatch http://identifiers.org/mesh/C537189
property_value: exactMatch http://identifiers.org/mesh/C537731
property_value: exactMatch http://identifiers.org/omim/203290
property_value: exactMatch http://identifiers.org/snomedct/63450009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342683
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931599
property_value: exactMatch Orphanet:79433

[Term]
id: MONDO:0008748
name: Hermansky-Pudlak syndrome 1
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" RELATED [OMIM:203300]
synonym: "Delta storage pool disease" RELATED [OMIM:203300]
synonym: "Hermansky-Pudlak syndrome 1" EXACT [MONDO:Lexical, OMIM:203300]
synonym: "Hermansky-Pudlak syndrome 1; HPS1" RELATED [OMIM:203300]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 1" EXACT [DOID:0060539, MONDORULE:1, OMIM:203300]
synonym: "HPS1" RELATED [MONDO:Lexical, OMIM:203300]
synonym: "HPS1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060539 {source="MONDO:equivalentTo"}
xref: MESH:C538539 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C150367 {source="MONDO:equivalentTo"}
xref: OMIM:203300 {source="MONDO:equivalentTo", source="DOID:0060539"}
xref: UMLS:C2931875 {source="OMIM:203300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis
property_value: exactMatch DOID:0060539
property_value: exactMatch http://identifiers.org/mesh/C538539
property_value: exactMatch http://identifiers.org/omim/203300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931875
property_value: exactMatch NCIT:C150367

[Term]
id: MONDO:0008749
name: pseudohypoparathyroidism type 2
def: "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response." [Orphanet:94090]
subset: gard_rare {source="GARD:0010682"}
subset: ordo_disease {source="Orphanet:94090"}
synonym: "Php 2" RELATED [OMIM:203330]
synonym: "PHP II" RELATED [GARD:0010682]
synonym: "PHP2" RELATED [MONDO:Lexical, OMIM:203330]
synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330]
synonym: "pseudohypoparathyroidism, type II; PHP2" RELATED [OMIM:203330]
xref: GARD:0010682 {source="MONDO:equivalentTo"}
xref: ICD10:E20.1 {source="MONDO:subClassOf", source="ORDO:94090/attributed", source="ORDO:94090/ntbt", source="Orphanet:94090"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C548077 {source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090", source="MONDO:ontobio"}
xref: OMIM:203330 {source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"}
xref: Orphanet:94090 {source="OMIM:203330", source="MONDO:equivalentTo"}
xref: SCTID:42183005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C2932717 {source="OMIM:203330", source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"}
xref: UMLS:CN206737 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018700 {source="Orphanet:94090"} ! pseudohypoparathyroidism without Albright hereditary osteodystrophy
property_value: exactMatch http://identifiers.org/mesh/C548077
property_value: exactMatch http://identifiers.org/omim/203330
property_value: exactMatch http://identifiers.org/snomedct/42183005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206737
property_value: exactMatch Orphanet:94090
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 xsd:anyURI {source="GARD:0010682"}

[Term]
id: MONDO:0008750
name: microcephaly-albinism-digital anomalies syndrome
def: "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." [Orphanet:2513]
subset: gard_rare {source="GARD:0003604"}
subset: ordo_malformation_syndrome {source="Orphanet:2513"}
synonym: "albinism-microcephaly digital anomalies syndrome" RELATED [GARD:0003604]
synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340]
synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513]
synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340]
xref: GARD:0003604 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2513/attributed", source="ORDO:2513/ntbt", source="Orphanet:2513"}
xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e", source="MONDO:ontobio"}
xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e"}
xref: Orphanet:2513 {source="OMIM:203340", source="MONDO:equivalentTo"}
xref: SCTID:719377004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C1859910 {source="OMIM:203340", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e"}
is_a: MONDO:0043008 {source="Orphanet:2513"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537322
property_value: exactMatch http://identifiers.org/omim/203340
property_value: exactMatch http://identifiers.org/snomedct/719377004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859910
property_value: exactMatch Orphanet:2513
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome xsd:anyURI {source="GARD:0003604"}

[Term]
id: MONDO:0008751
name: corticosterone methyloxidase type 1 deficiency
subset: gard_rare
synonym: "18 alpha hydroxylase deficiency" RELATED [GARD:0005660]
synonym: "18 Hydroxylase deficiency" RELATED [GARD:0005660]
synonym: "18-hydroxycorticosterone dehydrogenase deficiency" RELATED []
synonym: "18-Hydroxylase deficiency" RELATED [OMIM:203400]
synonym: "18-hydroxylase deficiency" RELATED []
synonym: "aldosterone deficiency 1" RELATED [GARD:0005660, OMIM:203400]
synonym: "aldosterone deficiency due to 18-hydroxylase defect" RELATED []
synonym: "aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency" RELATED []
synonym: "aldosterone deficiency due to defect in 18 hydroxylase" RELATED [GARD:0005660]
synonym: "aldosterone deficiency due to defect in steroid 18-Hydroxylase" RELATED [OMIM:203400]
synonym: "CAH - 18-hydroxylase deficiency" RELATED []
synonym: "CMO 1 deficiency" RELATED [GARD:0005660, OMIM:203400]
synonym: "CMO I deficiency" RELATED []
synonym: "CMO II deficiency" RELATED []
synonym: "corticosterone 18-monooxygenase deficiency" EXACT []
synonym: "corticosterone methyl oxidase type I deficiency" RELATED []
synonym: "corticosterone methyl oxidase type II deficiency" RELATED []
synonym: "corticosterone methyloxidase type 1 deficiency" EXACT [GARD:0005660]
synonym: "corticosterone methyloxidase type I deficiency" RELATED [OMIM:203400]
synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:203400]
synonym: "steroid 18-hydroxylase deficiency" RELATED [OMIM:203400]
xref: GARD:0005660 {source="MONDO:equivalentTo"}
xref: OMIM:203400 {source="MONDO:equivalentTo", source="GARD:0005660"}
xref: SCTID:47757001 {source="MONDO:equivalentTo"}
xref: UMLS:CN074214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020489 {source="ORDO:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1
is_a: MONDO:0045012 ! steroid metabolism disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268293
property_value: exactMatch http://identifiers.org/omim/203400
property_value: exactMatch http://identifiers.org/snomedct/47757001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074214
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency xsd:anyURI {source="GARD:0005660"}

[Term]
id: MONDO:0008752
name: Alexander disease
def: "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." [Orphanet:58]
subset: gard_rare {source="GARD:0005774"}
subset: ordo_disease {source="Orphanet:58"}
synonym: "Alexander disease" EXACT [MONDO:Lexical, OMIM:203450]
synonym: "Alexander disease; ALXDRD" RELATED [OMIM:203450]
synonym: "Alexander's disease" EXACT [CSP2005:1849-5479, DOID:4252]
synonym: "alexanders leukodystrophy" RELATED [GARD:0005774]
synonym: "ALXDRD" RELATED [MONDO:Lexical, OMIM:203450]
synonym: "AxD" EXACT [Orphanet:58]
synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774]
xref: DOID:4252 {source="MONDO:equivalentTo"}
xref: GARD:0005774 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:58", source="ORDO:58/attributed", source="ORDO:58/ntbt"}
xref: MESH:D038261 {source="Orphanet:58", source="ORDO:58/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4252"}
xref: NCIT:C84545 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4252"}
xref: OMIM:203450 {source="Orphanet:58", source="ORDO:58/e", source="MONDO:equivalentTo", source="DOID:4252"}
xref: Orphanet:58 {source="OMIM:203450", source="MONDO:equivalentTo"}
xref: SCTID:81854007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4252"}
xref: UMLS:C0270726 {source="OMIM:203450", source="NCIT:C84545", source="Orphanet:58", source="NCBI:mim2gene_medline", source="ORDO:58/e", source="MONDO:equivalentTo", source="DOID:4252"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy
is_a: MONDO:0020261 {source="Orphanet:58"} ! neurological disease with abnormal eye movements
property_value: exactMatch DOID:4252
property_value: exactMatch http://identifiers.org/mesh/D038261
property_value: exactMatch http://identifiers.org/omim/203450
property_value: exactMatch http://identifiers.org/snomedct/81854007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270726
property_value: exactMatch NCIT:C84545
property_value: exactMatch Orphanet:58
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5774/alexander-disease xsd:anyURI {source="GARD:0005774"}

[Term]
id: MONDO:0008753
name: alkaptonuria
def: "Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." [Orphanet:56]
subset: gard_rare {source="GARD:0005775"}
subset: ordo_disease {source="Orphanet:56"}
synonym: "aku" RELATED [MONDO:Lexical, OMIM:203500]
synonym: "alcaptonuria" EXACT [DOID:9270]
synonym: "alkaptonuria" EXACT [MONDO:Lexical, OMIM:203500]
synonym: "alkaptonuria; aku" RELATED [OMIM:203500]
synonym: "alkaptonuric ochronosis" RELATED [GARD:0005775]
synonym: "deficiency of homogentisicase" RELATED [DOID:9270]
synonym: "hereditary ochronosis" EXACT [Orphanet:56]
synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [DOID:9270]
synonym: "homogentisic acid oxidase deficiency" EXACT [OMIM:203500, Orphanet:56]
synonym: "homogentisic acidura" RELATED [GARD:0005775]
synonym: "ochronosis, hereditary" RELATED [GARD:0005775]
xref: DOID:9270 {source="MONDO:equivalentTo"}
xref: GARD:0005775 {source="MONDO:equivalentTo"}
xref: ICD10:E70.2 {source="Orphanet:56", source="ORDO:56/inclusion", source="ORDO:56/ntbt"}
xref: ICD10:E70.29 {source="DOID:9270"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001689 {source="Orphanet:56", source="ORDO:56/e"}
xref: MESH:D000474 {source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="MONDO:equivalentTo"}
xref: NCIT:C84546 {source="DOID:9270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:203500 {source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="MONDO:equivalentTo"}
xref: Orphanet:56 {source="DOID:9270", source="MONDO:equivalentTo", source="OMIM:203500"}
xref: SCTID:360378009 {source="DOID:9270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.83"}
xref: UMLS:C0002066 {source="NCIT:C84546", source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:203500"}
xref: UMLS:C2931645 {source="Orphanet:56", source="ORDO:56/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017307 {source="Orphanet:56", source="linkedlifedata"} ! disorder of tyrosine metabolism
is_a: MONDO:0019252 {source="Orphanet:56"} ! other metabolic disease with skin involvement
is_a: MONDO:0020203 {source="Orphanet:56"} ! pigmented conjunctival lesion
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/124207005
property_value: closeMatch http://identifiers.org/snomedct/190689001
property_value: closeMatch http://identifiers.org/snomedct/24250001
property_value: closeMatch http://identifiers.org/snomedct/267418001
property_value: closeMatch http://identifiers.org/snomedct/360381004
property_value: closeMatch http://identifiers.org/snomedct/367388008
property_value: exactMatch DOID:9270
property_value: exactMatch http://identifiers.org/meddra/10001689
property_value: exactMatch http://identifiers.org/mesh/C537862
property_value: exactMatch http://identifiers.org/mesh/D000474
property_value: exactMatch http://identifiers.org/omim/203500
property_value: exactMatch http://identifiers.org/snomedct/360378009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931645
property_value: exactMatch NCIT:C84546
property_value: exactMatch Orphanet:56
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria xsd:anyURI {source="GARD:0005775"}

[Term]
id: MONDO:0008754
name: alopecia - contractures - dwarfism - intellectual disability syndrome
def: "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." [Orphanet:1005]
subset: gard_rare {source="GARD:0000605"}
subset: ordo_malformation_syndrome {source="Orphanet:1005"}
synonym: "ACD mental retardation syndrome" RELATED [OMIM:203550]
synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005]
synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED [OMIM:203550]
xref: GARD:0000605 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1005/attributed", source="ORDO:1005/ntbt", source="Orphanet:1005"}
xref: MESH:C537051 {source="ORDO:1005/e", source="MONDO:equivalentTo", source="Orphanet:1005", source="MONDO:ontobio"}
xref: OMIM:203550 {source="ORDO:1005/e", source="MONDO:equivalentTo", source="Orphanet:1005"}
xref: Orphanet:1005 {source="OMIM:203550", source="MONDO:equivalentTo"}
xref: UMLS:C0795895 {source="OMIM:203550", source="ORDO:1005/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1005"}
is_a: MONDO:0000508 {source="Orphanet:1005"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:1005"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537051
property_value: exactMatch http://identifiers.org/omim/203550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795895
property_value: exactMatch Orphanet:1005
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome xsd:anyURI {source="GARD:0000605"}

[Term]
id: MONDO:0008755
name: Moynahan syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2574"}
synonym: "alopecia epilepsy oligophrenia syndrome of Moynahan" RELATED [GARD:0000606]
synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXACT [Orphanet:2574]
synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600]
synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600]
xref: GARD:0000606 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.4 {source="Orphanet:2574", source="ORDO:2574/attributed", source="ORDO:2574/ntbt"}
xref: MESH:C537052 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:203600 {source="ORDO:2574/e", source="Orphanet:2574", source="MONDO:equivalentTo"}
xref: Orphanet:2574 {source="MONDO:equivalentTo", source="OMIM:203600"}
is_a: MONDO:0000508 {source="Orphanet:2574"} ! syndromic intellectual disability
is_a: MONDO:0015650 {source="Orphanet:2574"} ! epilepsy syndrome
is_a: MONDO:0019289 {source="Orphanet:2574"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/mesh/C537052
property_value: exactMatch http://identifiers.org/omim/203600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265328
property_value: exactMatch Orphanet:2574

[Term]
id: MONDO:0008756
name: alopecia - intellectual disability syndrome
def: "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." [Orphanet:2850]
subset: ordo_disease {source="Orphanet:2850"}
synonym: "alopecia intellectual disbility syndrome 1" RELATED [GARD:0000612]
synonym: "alopecia with severe intellectual deficit" RELATED [GARD:0000612]
synonym: "alopecia-mental retardation syndrome" EXACT [OMIMPS:203650]
synonym: "Amr syndrome" RELATED [OMIM:203650]
synonym: "AMR syndrome 1" RELATED [GARD:0000612]
synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850]
xref: GARD:0000612 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2850", source="ORDO:2850/attributed", source="ORDO:2850/ntbt"}
xref: OMIMPS:203650 {source="MONDO:equivalentTo", source="DC:0000017"}
xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"}
xref: SCTID:716191002 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2850", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021034 {source="Orphanet:1014", source="Orphanet:2850"} ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931280
property_value: exactMatch http://identifiers.org/snomedct/716191002
property_value: exactMatch Orphanet:2850

[Term]
id: MONDO:0008757
name: alopecia universalis
def: "Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." [Orphanet:701]
subset: ordo_disease {source="Orphanet:701"}
synonym: "alopecia areata universalis" RELATED [GARD:0000614]
synonym: "alopecia universalis congenita" EXACT [DOID:0050634, MONDO:Lexical, OMIM:203655]
synonym: "alopecia universalis congenita; ALUNC" RELATED [OMIM:203655]
synonym: "ALUNC" RELATED [MONDO:Lexical, OMIM:203655]
synonym: "atrichia, generalized" RELATED [OMIM:203655]
synonym: "AU" RELATED [GARD:0000614]
xref: DOID:0050634 {source="MONDO:equivalentTo"}
xref: GARD:0000614 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L63.1 {source="ORDO:701/e", source="ORDO:701/specific", source="Orphanet:701"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001767 {source="ORDO:701/e", source="Orphanet:701"}
xref: MESH:C537055 {source="ORDO:701/e", source="Orphanet:701", source="MONDO:equivalentTo"}
xref: OMIM:203655 {source="Orphanet:701", source="DOID:0050634", source="MONDO:equivalentTo", source="ORDO:701/btnt"}
xref: Orphanet:701 {source="MONDO:equivalentTo", source="OMIM:203655"}
xref: SCTID:86166000 {source="MONDO:kboom-pr-0.88/0.76/0.14", source="MONDO:equivalentTo"}
xref: UMLS:C0263505 {source="ORDO:701/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:701", source="MONDO:equivalentTo"}
is_a: MONDO:0000005 {source="OMIM:203655"} ! alopecia, isolated
is_a: MONDO:0007806 ! hypotrichosis 4
is_a: MONDO:0021034 {source="MONDO:Redundant", source="Orphanet:701"} ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859877
property_value: exactMatch DOID:0050634
property_value: exactMatch http://identifiers.org/meddra/10001767
property_value: exactMatch http://identifiers.org/mesh/C537055
property_value: exactMatch http://identifiers.org/omim/203655
property_value: exactMatch http://identifiers.org/snomedct/86166000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263505
property_value: exactMatch Orphanet:701

[Term]
id: MONDO:0008758
name: mitochondrial DNA depletion syndrome 4a
def: "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome (see this term) characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." [Orphanet:726]
subset: ordo_disease {source="Orphanet:726"}
synonym: "AHD" EXACT [NCIT:C35257]
synonym: "AHS" EXACT [NCIT:C35257]
synonym: "Alper syndrome" EXACT [NCIT:C35257]
synonym: "Alper's syndrome" EXACT [DOID:1442, NCIT:C35257]
synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [OMIM:203700]
synonym: "Alpers disease" EXACT [NCIT:C35257]
synonym: "Alpers Huttenlocher disease" EXACT [NCIT:C35257]
synonym: "Alpers Huttenlocher syndrome" EXACT [NCIT:C35257]
synonym: "Alpers progressive infantile poliodystrophy" EXACT [DOID:1442]
synonym: "Alpers progressive sclerosing poliodystrophy" EXACT [Orphanet:726]
synonym: "Alpers syndrome" EXACT [MONDO:0001960, OMIM:203700, Orphanet:726]
synonym: "Alpers' disease or gray-matter degeneration" EXACT [DOID:1442, MTHICD9_2006:330.8]
synonym: "Alpers-Huttenlocher syndrome" EXACT [DOID:1442, OMIM:203700]
synonym: "diffuse cerebral degeneration in infancy" RELATED [GARD:0005783]
synonym: "infantile poliodystrophy" RELATED [GARD:0005783]
synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [DOID:1442]
synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" RELATED [MONDO:Lexical, OMIM:203700]
synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type); MTDPS4A" RELATED [OMIM:203700]
synonym: "mitochondrial DNA depletion syndrome type 4a" EXACT [DOID:0080122, MONDORULE:4]
synonym: "MTDPS4A" RELATED [MONDO:Lexical, OMIM:203700]
synonym: "neuronal Degeneration of childhood with liver disease, progressive" RELATED [OMIM:203700]
synonym: "PNDC" RELATED [GARD:0005783]
synonym: "Poliodystrophia cerebri progressiva" RELATED [GARD:0005783]
synonym: "progressive cerebral poliodystrophy" RELATED [GARD:0005783]
synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [Orphanet:726]
synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442]
xref: DOID:0080122 {source="MONDO:equivalentTo"}
xref: DOID:1442 {source="MONDO:equivalentTo"}
xref: GARD:0005783 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="ORDO:726/ntbt", source="Orphanet:726", source="ORDO:726/inclusion"}
xref: ICD10:G31.81 {source="DOID:1442"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062943 {source="ORDO:726/e", source="Orphanet:726"}
xref: NCIT:C35257 {source="DOID:1442", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.20"}
xref: OMIM:203700 {source="MONDO:subClassOf", source="DOID:0080122", source="DOID:1442", source="ORDO:726/e", source="MONDO:equivalentTo", source="Orphanet:726"}
xref: Orphanet:726 {source="MONDO:equivalentTo", source="OMIM:203700"}
xref: SCTID:20415001 {source="DOID:1442", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0205710 {source="DOID:1442", source="NCBI:mim2gene_medline", source="ORDO:726/e", source="MONDO:equivalentTo", source="Orphanet:726", source="OMIM:203700", source="NCIT:C35257"}
is_a: MONDO:0002254 {source="MONDOLEX:0008758", source="NCIT:C35257"} ! syndromic disease
is_a: MONDO:0016402 {source="Orphanet:726"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:726"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016808 {source="Orphanet:726"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
is_a: MONDO:0019058 {source="Orphanet:726"} ! neurometabolic disease
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:726", source="indirect"} ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149842
property_value: exactMatch DOID:0080122
property_value: exactMatch DOID:1442
property_value: exactMatch http://identifiers.org/meddra/10062943
property_value: exactMatch http://identifiers.org/mesh/D002549
property_value: exactMatch http://identifiers.org/omim/203700
property_value: exactMatch http://identifiers.org/snomedct/20415001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205710
property_value: exactMatch NCIT:C35257
property_value: exactMatch Orphanet:726

[Term]
id: MONDO:0008759
name: oxoglutaricaciduria
def: "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." [Orphanet:31]
subset: ordo_disease {source="Orphanet:31"}
synonym: "2 alpha ketoglutarate dehydrogenase deficiency" RELATED [GARD:0000617]
synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740]
synonym: "Alpha KGD deficiency" RELATED [GARD:0000617]
synonym: "ALPHA-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740]
synonym: "Alpha-ketoglutarate dehydrogenase deficiency" EXACT [Orphanet:31]
synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740]
synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740]
xref: GARD:0000617 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.8 {source="Orphanet:31", source="ORDO:31/attributed", source="ORDO:31/ntbt"}
xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:31/e"}
xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="ORDO:31/e"}
xref: Orphanet:31 {source="OMIM:203740", source="MONDO:equivalentTo"}
xref: SCTID:733630004 {source="MONDO:equivalentTo"}
xref: UMLS:C2752074 {source="Orphanet:31", source="OMIM:203740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:31/e"}
is_a: MONDO:0016402 {source="Orphanet:31"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:31"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016790 {source="Orphanet:31"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0019058 {source="Orphanet:31"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C536582
property_value: exactMatch http://identifiers.org/omim/203740
property_value: exactMatch http://identifiers.org/snomedct/733630004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752074
property_value: exactMatch Orphanet:31

[Term]
id: MONDO:0008760
name: beta-ketothiolase deficiency
def: "Beta-ketothiolase (T2) deficiency is a rare organic aciduria (see this term) affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." [Orphanet:134]
subset: ordo_disease {source="Orphanet:134"}
synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [OMIM:203750]
synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [DOID:14723]
synonym: "3-ketothiolase deficiency" EXACT [DOID:14723, Orphanet:134]
synonym: "3-Ktd deficiency" RELATED [OMIM:203750]
synonym: "3-oxothiolase deficiency" EXACT [DOID:14723, OMIM:203750, Orphanet:134]
synonym: "Alpha methylacetoacetic aciduria" EXACT [Orphanet:134]
synonym: "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" EXACT [Orphanet:134]
synonym: "ALPHA-methylacetoacetic aciduria" RELATED [OMIM:203750]
synonym: "alpha-methylacetoaceticaciduria" EXACT [DOID:14723]
synonym: "Beta ketothiolase deficiency" RELATED [GARD:0000872]
synonym: "beta-ketothiolase deficiency" EXACT [OMIM:203750]
synonym: "BKT" EXACT [NCIT:C98841]
synonym: "Mat deficiency" RELATED [OMIM:203750]
synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [DOID:14723]
synonym: "mitochondrial acetoacetyl-Coa thiolase deficiency" RELATED [OMIM:203750]
synonym: "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" EXACT [Orphanet:134]
synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723]
synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134]
xref: DOID:14723 {source="MONDO:equivalentTo"}
xref: GARD:0000872 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:134/attributed", source="ORDO:134/ntbt", source="Orphanet:134"}
xref: MESH:C535434 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98841 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.87/1.34"}
xref: OMIM:203750 {source="DOID:14723", source="MONDO:equivalentTo", source="ORDO:134/e", source="Orphanet:134"}
xref: Orphanet:134 {source="OMIM:203750", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:14723", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019215 {source="Orphanet:134"} ! classic organic aciduria
is_a: MONDO:0019229 {source="Orphanet:134"} ! inborn disorder of ketolysis
property_value: closeMatch http://identifiers.org/mesh/C535818
property_value: closeMatch http://identifiers.org/snomedct/238067002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1536500
property_value: exactMatch DOID:14723
property_value: exactMatch http://identifiers.org/mesh/C535434
property_value: exactMatch http://identifiers.org/omim/203750
property_value: exactMatch NCIT:C98841
property_value: exactMatch Orphanet:134

[Term]
id: MONDO:0008761
name: alpha-2-deficient collagen disease
subset: gard_rare
synonym: "alpha-2-deficient collagen disease" EXACT [MONDO:0022423, OMIM:203760]
synonym: "Meigel disease" EXACT [OMIM:203760]
xref: GARD:0000616 {source="MONDO:equivalentObsolete"}
xref: GARD:0003454 {source="MONDO:equivalentTo"}
xref: MESH:C565963 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:203760 {source="MONDO:equivalentTo"}
xref: UMLS:C1859850 {source="GARD:0003454", source="OMIM:203760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C565963
property_value: exactMatch http://identifiers.org/omim/203760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859850
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3454/meigel-disease xsd:string {source="GARD:0003454"}

[Term]
id: MONDO:0008762
name: autosomal recessive Alport syndrome
def: "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." [https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome]
subset: gard_rare {source="GARD:0000625"}
subset: ordo_etiological_subtype {source="Orphanet:88919"}
synonym: "Alport syndrome autosomal recessive" RELATED [GARD:0000625]
synonym: "Alport syndrome recessive type" RELATED [GARD:0000625]
synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:203780]
synonym: "nephropathy and deafness" RELATED [GARD:0000625]
xref: DOID:0110033 {source="MONDO:equivalentTo"}
xref: GARD:0000625 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:88919/attributed", source="ORDO:88919/ntbt", source="Orphanet:88919"}
xref: MedDRA:10001843 {source="ORDO:88919/e", source="Orphanet:88919"}
xref: OMIM:203780 {source="MONDO:equivalentTo", source="DOID:0110033", source="ORDO:88919/e", source="Orphanet:88919"}
xref: Orphanet:88919 {source="OMIM:203780", source="MONDO:equivalentTo", source="DOID:0110033"}
xref: SCTID:717767009 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="Orphanet:88919"} ! Alport syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931254
property_value: exactMatch DOID:0110033
property_value: exactMatch http://identifiers.org/meddra/10001843
property_value: exactMatch http://identifiers.org/mesh/C536587
property_value: exactMatch http://identifiers.org/omim/203780
property_value: exactMatch http://identifiers.org/snomedct/717767009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567744
property_value: exactMatch Orphanet:88919
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome xsd:anyURI {source="GARD:0000625"}

[Term]
id: MONDO:0008763
name: Alstrom syndrome
def: "AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction." [Orphanet:64]
subset: ordo_disease {source="Orphanet:64"}
synonym: "alms" RELATED [MONDO:Lexical, OMIM:203800]
synonym: "Alss" RELATED [OMIM:203800]
synonym: "Alstrom syndrome" EXACT [MONDO:Lexical, OMIM:203800]
synonym: "Alstrom syndrome; alms" RELATED [OMIM:203800]
synonym: "Alstrom's syndrome" RELATED [GARD:0005787]
synonym: "Alström syndrome" EXACT [NCIT:C84549]
xref: DOID:0050473 {source="MONDO:equivalentTo"}
xref: GARD:0005787 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:64", source="ORDO:64/attributed", source="ORDO:64/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068783 {source="Orphanet:64", source="ORDO:64/e"}
xref: MESH:D056769 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:64/e"}
xref: NCIT:C84549 {source="DOID:0050473", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="ORDO:64/e"}
xref: Orphanet:64 {source="MONDO:equivalentTo", source="OMIM:203800"}
xref: SCTID:63702009 {source="DOID:0050473", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0268425 {source="DOID:0050473", source="Orphanet:64", source="NCBI:mim2gene_medline", source="NCIT:C84549", source="MONDO:equivalentTo", source="OMIM:203800", source="ORDO:64/e"}
is_a: MONDO:0006025 {source="DOID:0050473", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015887 {source="Orphanet:64"} ! rare diabetes mellitus type 2
is_a: MONDO:0015962 {source="Orphanet:64"} ! inherited renal tubular disease
is_a: MONDO:0016337 {source="Orphanet:64"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0016565 {source="Orphanet:64"} ! syndromic genetic obesity
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019589 {source="Orphanet:64"} ! syndromic genetic deafness
is_a: MONDO:0019744 {source="Orphanet:64"} ! rare renal tubular disease
is_a: MONDO:0020240 {source="Orphanet:64"} ! syndromic retinitis pigmentosa
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0050473
property_value: exactMatch http://identifiers.org/meddra/10068783
property_value: exactMatch http://identifiers.org/mesh/D056769
property_value: exactMatch http://identifiers.org/omim/203800
property_value: exactMatch http://identifiers.org/snomedct/63702009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268425
property_value: exactMatch NCIT:C84549
property_value: exactMatch Orphanet:64

[Term]
id: MONDO:0008764
name: Leber congenital amaurosis 1
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "amaurosis congenita of Leber 1" RELATED [OMIM:204000]
synonym: "amaurosis congenita of Leber I" EXACT [DOID:0110078]
synonym: "amaurosis congenita of Leber, type 1" RELATED [GARD:0000635]
synonym: "CRB" RELATED [GARD:0000635]
synonym: "GUCY2D Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA" RELATED [OMIM:204000]
synonym: "LCA1" EXACT [DOID:0110078, MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis 1" EXACT [MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis 1; LCA1" RELATED [OMIM:204000]
synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 1" EXACT [DOID:0110078, MONDORULE:1, OMIM:204000]
synonym: "retinal blindness, congenital" RELATED [OMIM:204000]
xref: DOID:0110078 {source="MONDO:equivalentTo"}
xref: GARD:0000635 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110078"}
xref: OMIM:204000 {source="MONDO:equivalentTo", source="DOID:0110078"}
is_a: MONDO:0018998 {source="DC-OMIM:204000", source="DOID:0110078", source="MONDO:Redundant", source="OMIM:204000"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931258
property_value: exactMatch DOID:0110078
property_value: exactMatch http://identifiers.org/omim/204000

[Term]
id: MONDO:0008765
name: Leber congenital amaurosis 2
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0000636"}
synonym: "amaurosis congenita of Leber 2" RELATED [OMIM:204100]
synonym: "amaurosis congenita of Leber II" EXACT [DOID:0110016]
synonym: "amaurosis congenita of Leber, type 2" RELATED [GARD:0000636]
synonym: "LCA2" EXACT [DOID:0110016, MONDO:Lexical, OMIM:204100]
synonym: "Leber congenital amaurosis 2" EXACT [MONDO:Lexical, OMIM:204100]
synonym: "Leber congenital amaurosis 2; LCA2" RELATED [OMIM:204100]
synonym: "Leber congenital amaurosis caused by mutation in RPE65" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 2" EXACT [DOID:0110016, MONDORULE:1, OMIM:204100]
synonym: "RPE65 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110016 {source="MONDO:equivalentTo"}
xref: GARD:0000636 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110016", source="MONDO:relatedTo"}
xref: MESH:C536601 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204100 {source="DOID:0110016", source="MONDO:equivalentTo"}
xref: UMLS:C1859844 {source="OMIM:204100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="DC-OMIM:204100", source="DOID:0110016", source="MESH:C536601", source="MONDO:Redundant", source="OMIM:204100"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110016
property_value: exactMatch http://identifiers.org/mesh/C536601
property_value: exactMatch http://identifiers.org/omim/204100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859844
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2 xsd:anyURI {source="GARD:0000636"}

[Term]
id: MONDO:0008766
name: amaurosis-hypertrichosis syndrome
def: "Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." [Orphanet:1021]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1021"}
synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637]
synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110]
xref: GARD:0000637 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:1021", source="MONDO:directSiblingOf", source="ORDO:1021/attributed", source="ORDO:1021/ntbt"}
xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1021/e"}
xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="GARD:0000637", source="ORDO:1021/e"}
xref: Orphanet:1021 {source="OMIM:204110", source="MONDO:equivalentTo"}
xref: SCTID:720983002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859843
property_value: exactMatch http://identifiers.org/mesh/C536604
property_value: exactMatch http://identifiers.org/omim/204110
property_value: exactMatch http://identifiers.org/snomedct/720983002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857588
property_value: exactMatch Orphanet:1021
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis xsd:anyURI {source="GARD:0000637"}

[Term]
id: MONDO:0008767
name: neuronal ceroid lipofuscinosis 3
def: "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C61258]
subset: ordo_etiological_subtype {source="Orphanet:228346"}
synonym: "batten disease" RELATED [OMIM:204200]
synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical, OMIM:204200]
synonym: "ceroid lipofuscinosis, neuronal, 3; CLN3" RELATED [OMIM:204200]
synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1, OMIM:204200]
synonym: "CLN3" EXACT [DOID:0110731, MONDO:Lexical, OMIM:204200]
synonym: "CLN3 disease" RELATED [Orphanet:228346]
synonym: "CLN3 disease, juvenile" RELATED [GARD:0005897]
synonym: "CLN3 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT EXCLUDE [DOID:0110731]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN3" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [DOID:0110731, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [OMIM:204200]
synonym: "Spielmeyer Sjogren disease" RELATED [GARD:0005897]
synonym: "Spielmeyer-Sjogren disease" RELATED [OMIM:204200]
synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897]
synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200]
xref: DOID:0110731 {source="MONDO:equivalentTo"}
xref: GARD:0005897 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="DOID:0110731", source="ORDO:228346/attributed", source="ORDO:228346/ntbt", source="Orphanet:228346"}
xref: NCIT:C61258 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"}
xref: OMIM:204200 {source="DOID:0110731", source="MONDO:equivalentTo", source="Orphanet:228346", source="ORDO:228346/e"}
xref: Orphanet:228346 {source="DOID:0110731", source="OMIM:204200", source="MONDO:equivalentTo"}
is_a: MONDO:0019262 {source="MONDOLEX:0008767", source="Orphanet:228346"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751383
property_value: exactMatch DOID:0110731
property_value: exactMatch http://identifiers.org/omim/204200
property_value: exactMatch NCIT:C61258
property_value: exactMatch Orphanet:228346

[Term]
id: MONDO:0008768
name: neuronal ceroid lipofuscinosis 4A
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:228340"}
synonym: "adult neuronal ceroid lipofuscinosis 4A" RELATED [GARD:0006845]
synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730]
synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:204300]
synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive; CLN4A" RELATED [OMIM:204300]
synonym: "CLN4A" EXACT [DOID:0110730, MONDO:Lexical, OMIM:204300]
synonym: "CLN4A disease" RELATED [Orphanet:228340]
synonym: "CLN6 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Kuf's disease type A" RELATED [GARD:0006845]
synonym: "Kuf's disease, autosomal recessive" RELATED [GARD:0006845]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4]
xref: DOID:0110730 {source="MONDO:equivalentTo"}
xref: GARD:0006845 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:228340/attributed", source="ORDO:228340/ntbt", source="Orphanet:228340", source="DOID:0110730"}
xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="ORDO:228340/e", source="DOID:0110730"}
xref: Orphanet:228340 {source="OMIM:204300", source="MONDO:equivalentTo", source="DOID:0110730"}
is_a: MONDO:0019260 {source="MONDOLEX:0008768", source="Orphanet:228340"} ! adult neuronal ceroid lipofuscinosis
property_value: exactMatch DOID:0110730
property_value: exactMatch http://identifiers.org/omim/204300
property_value: exactMatch Orphanet:228340

[Term]
id: MONDO:0008769
name: neuronal ceroid lipofuscinosis 2
def: "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85864]
subset: ordo_etiological_subtype {source="Orphanet:228349"}
synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical, OMIM:204500]
synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [OMIM:204500]
synonym: "ceroid lipofuscinosis, neuronal, 2; CLN2" RELATED [OMIM:204500]
synonym: "ceroid lipofuscinosis, neuronal, type 2" EXACT [MONDORULE:1, OMIM:204500]
synonym: "CLN2" EXACT [DOID:0110726, MONDO:Lexical, OMIM:204500]
synonym: "CLN2 disease" RELATED [Orphanet:228349]
synonym: "CLN2 disease, juvenile (subtype)" RELATED [GARD:0003045]
synonym: "CLN2 disease, late infantile (subtype)" RELATED [GARD:0003045]
synonym: "Jansky-Bielschowsky disease" RELATED [OMIM:204500]
synonym: "late infantile neuronal ceroid lipofuscinosis" EXACT [NCIT:C85864]
synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [DOID:0110726]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in TPP1" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500]
synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110726 {source="MONDO:equivalentTo"}
xref: GARD:0003045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="Orphanet:228349", source="DOID:0110726", source="ORDO:228349/attributed", source="ORDO:228349/ntbt"}
xref: NCIT:C85864 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: OMIM:204500 {source="ORDO:228349/e", source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726"}
xref: Orphanet:228349 {source="MONDO:equivalentTo", source="DOID:0110726", source="OMIM:204500"}
is_a: MONDO:0015674 {source="MONDOLEX:0008769", source="Orphanet:228349"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228349"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876161
property_value: exactMatch DOID:0110726
property_value: exactMatch http://identifiers.org/omim/204500
property_value: exactMatch NCIT:C85864
property_value: exactMatch Orphanet:228349

[Term]
id: MONDO:0008770
name: amelogenesis imperfecta type 1C
synonym: "AI1C" EXACT [DOID:0110056, MONDO:Lexical, OMIM:204650]
synonym: "amelogenesis imperfecta type IC" EXACT [DOID:0110056]
synonym: "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive" RELATED [OMIM:204650]
synonym: "amelogenesis imperfecta, local hypoplastic type, autosomal recessive" RELATED [OMIM:204650]
synonym: "amelogenesis imperfecta, type 1C" EXACT [MONDO:0000907]
synonym: "amelogenesis imperfecta, type IC" RELATED [MONDO:Lexical, OMIM:204650]
synonym: "amelogenesis imperfecta, type IC; AI1C" RELATED [OMIM:204650]
synonym: "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT [DOID:0110056]
synonym: "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT [DOID:0110056]
xref: DOID:0110056 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110056"}
xref: MESH:C567147 {source="MONDO:equivalentTo"}
xref: OMIM:204650 {source="MONDO:equivalentTo"}
xref: UMLS:C2673923 {source="OMIM:204650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015047 {source="MONDO:Redundant", source="MONDOLEX:0008770", source="ORDO:100031/btnt", source="indirect"} ! amelogenesis imperfecta type 1
property_value: exactMatch DOID:0110056
property_value: exactMatch http://identifiers.org/mesh/C567147
property_value: exactMatch http://identifiers.org/omim/204650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673923

[Term]
id: MONDO:0008771
name: amelogenesis imperfecta type 1G
def: "Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." [Orphanet:1031]
subset: ordo_malformation_syndrome {source="Orphanet:1031"}
synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" RELATED [GARD:0000646]
synonym: "AI1G" EXACT [DOID:0110066]
synonym: "AI1G" RELATED [MONDO:Lexical, OMIM:204690]
synonym: "AIGFS" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta and nephrocalcinosis" RELATED [GARD:0009860]
synonym: "amelogenesis imperfecta caused by mutation in FAM20A" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type, Ig" RELATED [GARD:0009860]
synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta nephrocalcinosis" RELATED [GARD:0000646]
synonym: "amelogenesis imperfecta type Ig" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis" RELATED [OMIM:204690]
synonym: "amelogenesis imperfecta, type 1G" RELATED [OMIM:204690]
synonym: "amelogenesis imperfecta, type Ig" RELATED [MONDO:Lexical, OMIM:204690]
synonym: "amelogenesis imperfecta, type Ig; AI1G" RELATED [OMIM:204690]
synonym: "amelogenesis imperfecta-nephrocalcinosis syndrome" RELATED [Orphanet:1031]
synonym: "enamel renal syndrome" RELATED [GARD:0000646]
synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690]
synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690]
synonym: "ers" EXACT [DOID:0110066]
synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646]
xref: DOID:0110066 {source="MONDO:equivalentTo"}
xref: GARD:0000646 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0009860 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110066", source="ORDO:1031/attributed", source="ORDO:1031/ntbt", source="Orphanet:1031"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538241 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1031", source="ORDO:1031/e"}
xref: OMIM:204690 {source="MONDO:equivalentTo", source="DOID:0110066", source="Orphanet:1031", source="ORDO:1031/e"}
xref: Orphanet:1031 {source="MONDO:equivalentTo", source="DOID:0110066", source="OMIM:204690"}
xref: SCTID:109477002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015336 {source="Orphanet:1031"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO:Redundant", source="OMIM:204690", source="linkedlifedata"} ! amelogenesis imperfecta
is_a: MONDO:0019743 {source="Orphanet:1031"} ! nephropathy secondary to a storage or other metabolic disease
property_value: exactMatch DOID:0110066
property_value: exactMatch http://identifiers.org/mesh/C538241
property_value: exactMatch http://identifiers.org/omim/204690
property_value: exactMatch http://identifiers.org/snomedct/109477002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931783
property_value: exactMatch Orphanet:1031

[Term]
id: MONDO:0008772
name: amelogenesis imperfecta type 2A1
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "AI2A1" EXACT [DOID:0110057, MESH:C538242, MONDO:Lexical, OMIM:204700]
synonym: "amelogenesis imperfecta caused by mutation in KLK4" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta pigmented hypomaturation type" RELATED [GARD:0009495]
synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [DOID:0110057]
synonym: "amelogenesis imperfecta type IIA1" EXACT [DOID:0110057]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" RELATED [MESH:C538242, MONDO:Lexical, OMIM:204700]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1" RELATED [OMIM:204700]
synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [MESH:C538242, OMIM:204700]
synonym: "KLK4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110057 {source="MONDO:equivalentTo"}
xref: GARD:0009495 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110057"}
xref: MESH:C538242 {source="MONDO:equivalentTo"}
xref: MESH:C567146 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204700 {source="MONDO:equivalentTo", source="GARD:0009495", source="DOID:0110057"}
is_a: MONDO:0015048 {source="MONDOLEX:0008772", source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1290537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673922
property_value: exactMatch DOID:0110057
property_value: exactMatch http://identifiers.org/mesh/C538242
property_value: exactMatch http://identifiers.org/mesh/C567146
property_value: exactMatch http://identifiers.org/omim/204700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type xsd:anyURI {source="GARD:0009495"}

[Term]
id: MONDO:0008773
name: amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
subset: gard_rare {source="GARD:0000763"}
synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis" RELATED [GARD:0000763]
synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" EXACT [OMIM:204730]
xref: GARD:0000763 {source="MONDO:equivalentTo"}
xref: MESH:C565960 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204730 {source="MONDO:equivalentTo"}
xref: UMLS:C1859818 {source="OMIM:204730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565960/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565960
property_value: exactMatch http://identifiers.org/omim/204730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis xsd:anyURI {source="GARD:0000763"}

[Term]
id: MONDO:0008774
name: 2-aminoadipic 2-oxoadipic aciduria
subset: ordo_disease {source="Orphanet:79154"}
synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT [MONDO:Lexical, OMIM:204750]
synonym: "2-aminoadipic 2-oxoadipic aciduria; AMOXAD" RELATED [OMIM:204750]
synonym: "Alpha-aminoadipic aciduria" EXACT [Orphanet:79154]
synonym: "AMOXAD" RELATED [MONDO:Lexical, OMIM:204750]
xref: ICD10:E72.3 {source="MONDO:subClassOf", source="ORDO:79154/attributed", source="ORDO:79154/ntbt", source="Orphanet:79154"}
xref: OMIM:204750 {source="MONDO:equivalentTo", source="ORDO:79154/e", source="Orphanet:79154"}
xref: Orphanet:79154 {source="OMIM:204750", source="MONDO:equivalentTo"}
is_a: MONDO:0017351 {source="Orphanet:79154"} ! inborn disorder of lysine and hydroxylysine metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859817
property_value: exactMatch http://identifiers.org/omim/204750
property_value: exactMatch Orphanet:79154

[Term]
id: MONDO:0008775
name: Amobarbital, deficient N-hydroxylation of
synonym: "Amobarbital, deficient N-hydroxylation of" EXACT [OMIM:204800]
xref: MESH:C565959 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204800 {source="MONDO:equivalentTo"}
xref: UMLS:C1859816 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:204800"}
is_a: MONDO:0003847 {source="MESH:C565959/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565959
property_value: exactMatch http://identifiers.org/omim/204800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859816

[Term]
id: MONDO:0008776
name: amyloidosis of gingiva and conjunctiva, with mental retardation
subset: gard_rare
synonym: "amyloidosis of gingiva and conjunctiva with intellectual disability" RELATED [GARD:0000657]
synonym: "amyloidosis of gingiva and conjunctiva with mental retardation" RELATED [GARD:0000657]
synonym: "amyloidosis of gingiva and conjunctiva, with mental retardation" EXACT [OMIM:204850]
synonym: "Hornova Dlushosova syndrome" RELATED [GARD:0000657]
xref: GARD:0000657 {source="MONDO:equivalentTo"}
xref: MESH:C565958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204850 {source="MONDO:equivalentTo", source="GARD:0000657"}
xref: UMLS:C1859815 {source="NCBI:mim2gene_medline", source="OMIM:204850", source="MONDO:equivalentTo", source="GARD:0000657"}
is_a: MONDO:0003847 {source="MESH:C565958/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565958
property_value: exactMatch http://identifiers.org/omim/204850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859815
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability xsd:anyURI {source="GARD:0000657"}

[Term]
id: MONDO:0008777
name: gelatinous drop-like corneal dystrophy
def: "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." [Orphanet:98957]
subset: gard_rare
subset: ordo_disease {source="Orphanet:98957"}
synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647, OMIM:204870]
synonym: "amyloidosis corneal" RELATED [GARD:0009647]
synonym: "amyloidosis, corneal" RELATED [OMIM:204870]
synonym: "CDGDL" RELATED [GARD:0009647]
synonym: "Cdgdl" RELATED [OMIM:204870]
synonym: "corneal amyloidosis" EXACT [DOID:0060449, GARD:0009647]
synonym: "corneal dystrophy, gelatinous drop-like" RELATED [GARD:0009647, MONDO:Lexical, OMIM:204870]
synonym: "corneal dystrophy, gelatinous drop-like; GDLD" RELATED [OMIM:204870]
synonym: "corneal dystrophy, lattice type 3" RELATED [GARD:0009647, OMIM:204870]
synonym: "GDCD" EXACT [DOID:0060449, Orphanet:98957]
synonym: "GDLD" RELATED [GARD:0009647, MONDO:Lexical, OMIM:204870]
synonym: "gelatinous drop-like corneal dystrophy" EXACT [GARD:0009647]
synonym: "lattice corneal dystrophy type 3" RELATED [GARD:0009647]
synonym: "lattice corneal dystrophy, type 3" RELATED [OMIM:204870]
synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957]
synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957]
xref: DOID:0060449 {source="MONDO:equivalentTo"}
xref: GARD:0009647 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="ORDO:98957/attributed", source="ORDO:98957/ntbt", source="Orphanet:98957"}
xref: MESH:C535480 {source="ORDO:98957/e", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="MONDO:ontobio"}
xref: NCIT:C142805 {source="MONDO:equivalentTo"}
xref: OMIM:204870 {source="GARD:0009647", source="ORDO:98957/e", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449"}
xref: Orphanet:98957 {source="GARD:0009647", source="OMIM:204870", source="MONDO:equivalentTo", source="DOID:0060449"}
xref: UMLS:C0339273 {source="GARD:0009647", source="MEDGEN:kboom-pr98-c99", source="OMIM:204870", source="ORDO:98957/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449"}
is_a: MONDO:0000763 {source="DOID:0060449"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0004686 ! lattice corneal dystrophy (disease)
is_a: MONDO:0020212 {source="Orphanet:98957"} ! superficial corneal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/418946006
property_value: exactMatch DOID:0060449
property_value: exactMatch http://identifiers.org/mesh/C535480
property_value: exactMatch http://identifiers.org/omim/204870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339273
property_value: exactMatch NCIT:C142805
property_value: exactMatch Orphanet:98957
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal xsd:anyURI {source="GARD:0009647"}

[Term]
id: MONDO:0008778
name: amyloidosis, cutaneous bullous
synonym: "amyloidosis, cutaneous bullous" EXACT [OMIM:204900]
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562644 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:204900 {source="MONDO:equivalentTo"}
xref: SCTID:38606009 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0268399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:204900"}
is_a: MONDO:0003847 {source="MESH:C562644/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562644
property_value: exactMatch http://identifiers.org/omim/204900
property_value: exactMatch http://identifiers.org/snomedct/38606009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268399

[Term]
id: MONDO:0008779
name: arthrogryposis
def: "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." [NCIT:C84572]
synonym: "Arthrogryposes, congenital multiple" EXACT [MESH:D001176]
synonym: "congenital multiple Arthrogryposes" EXACT [MESH:D001176]
synonym: "congenital multiple arthrogryposis" EXACT [MESH:D001176]
xref: EFO:0003857 {source="MONDO:equivalentTo"}
xref: MESH:D001176 {source="MONDO:equivalentTo", source="EFO:0003857"}
xref: NCIT:C84572 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:0003857"}
xref: UMLS:C0003886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84572"}
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://identifiers.org/snomedct/111246005
property_value: exactMatch http://identifiers.org/mesh/D001176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003886
property_value: exactMatch NCIT:C84572

[Term]
id: MONDO:0008780
name: amyotrophic lateral sclerosis type 2
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009470"}
synonym: "ALS, juvenile" RELATED [OMIM:205100]
synonym: "ALS2" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100]
synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIMl:205100]
synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100]
synonym: "amyotrophic lateral sclerosis 2, juvenile; ALS2" RELATED [OMIM:205100]
synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern]
xref: DOID:0060194 {source="MONDO:equivalentTo"}
xref: GARD:0009470 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="DOID:0060194"}
xref: MESH:C565957 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:205100 {source="MONDO:equivalentTo", source="DOID:0060194"}
is_a: MONDO:0017593 {source="ORDO:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859807
property_value: exactMatch DOID:0060194
property_value: exactMatch http://identifiers.org/mesh/C565957
property_value: exactMatch http://identifiers.org/omim/205100
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 xsd:anyURI {source="GARD:0009470"}

[Term]
id: MONDO:0008781
name: juvenile amyotrophic lateral sclerosis with dementia
def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." [DOID:0110067, PMID:5692341]
synonym: "ALS-dementia Complex" RELATED [OMIM:205200]
synonym: "ALS-dementia complex" EXACT [DOID:0110067]
synonym: "amyotrophic lateral sclerosis, juvenile, with dementia" RELATED [OMIM:205200]
xref: DOID:0110067 {source="MONDO:equivalentTo"}
xref: MESH:C565956 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:205200 {source="MONDO:equivalentTo", source="DOID:0110067"}
xref: UMLS:C1859806 {source="OMIM:205200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017593 {source="MONDOLEX"} ! juvenile amyotrophic lateral sclerosis
property_value: exactMatch DOID:0110067
property_value: exactMatch http://identifiers.org/mesh/C565956
property_value: exactMatch http://identifiers.org/omim/205200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859806

[Term]
id: MONDO:0008782
name: amyotrophic lateral sclerosis with polyglucosan bodies
comment: Not in the OMIM series. {source="OMIM:205250"}
synonym: "amyotrophic lateral sclerosis with polyglucosan bodies" EXACT [OMIM:205250]
xref: MESH:C565955 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:205250 {source="MONDO:equivalentTo"}
xref: UMLS:C1859805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:205250"}
is_a: MONDO:0004976 {source="MESH:C565955", source="MONDOLEX:0008782"} ! amyotrophic lateral sclerosis
property_value: exactMatch http://identifiers.org/mesh/C565955
property_value: exactMatch http://identifiers.org/omim/205250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859805

[Term]
id: MONDO:0008783
name: Tangier disease
def: "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." [Orphanet:31150]
subset: ordo_disease {source="Orphanet:31150"}
synonym: "A-alphalipoprotein neuropathy" RELATED [GARD:0007731]
synonym: "Alpha high density lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "Analphalipo-proteinemia" RELATED [GARD:0007731]
synonym: "Analphalipoproteinemia" EXACT [OMIM:205400, Orphanet:31150]
synonym: "ATP-binding cassette transporter A1 deficiency" EXACT [Orphanet:31150]
synonym: "cholesterol thesaurismosis" RELATED [GARD:0007731]
synonym: "defective adenosine triphosphate-binding cassette transporter A1" EXACT [Orphanet:31150]
synonym: "familial alpha-lipoprotein deficiency" EXACT [DOID:1388]
synonym: "familial high density lipoprotein deficiency" EXACT [CSP2005:1849-5194, DOID:1388]
synonym: "familial high density lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "familial Hypoalphalipo-proteinemia" RELATED [GARD:0007731]
synonym: "familial hypoalphalipoproteinemia" EXACT EXCLUDE [DOID:1388]
synonym: "HDL lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "HDLDT1" RELATED [GARD:0007731]
synonym: "high density lipoprotein deficiency, Tangier type" RELATED [OMIM:205400]
synonym: "high density lipoprotein deficiency, type 1" RELATED [OMIM:205400]
synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400]
synonym: "Tangier disease; tgd" RELATED [OMIM:205400]
synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400]
xref: DOID:1388 {source="MONDO:equivalentTo"}
xref: GARD:0007731 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.6 {source="DOID:1388", source="ORDO:31150/attributed", source="ORDO:31150/ntbt", source="Orphanet:31150"}
xref: MedDRA:10051875 {source="ORDO:31150/e", source="Orphanet:31150"}
xref: MESH:D013631 {source="DOID:1388", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"}
xref: NCIT:C85182 {source="DOID:1388", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:205400 {source="DOID:1388", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"}
xref: Orphanet:31150 {source="OMIM:205400", source="MONDO:equivalentTo"}
xref: SCTID:723579009 {source="MONDO:equivalentTo"}
xref: UMLS:C0039292 {source="DOID:1388", source="NCBI:mim2gene_medline", source="NCIT:C85182", source="OMIM:205400", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"}
is_a: MONDO:0001822 {source="DOID:1388", source="MESH:D013631/inferred"} ! hypolipoproteinemia (disease)
is_a: MONDO:0016133 {source="Orphanet:31150"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016134 {source="Orphanet:31150"} ! rare hereditary systemic disease with peripheral neuropathy
is_a: MONDO:0017773 {source="MESH:D013631", source="Orphanet:31150"} ! hypoalphalipoproteinemia
is_a: MONDO:0019058 {source="Orphanet:31150"} ! neurometabolic disease
property_value: closeMatch http://identifiers.org/snomedct/15346004
property_value: closeMatch http://identifiers.org/snomedct/190783007
property_value: exactMatch DOID:1388
property_value: exactMatch http://identifiers.org/meddra/10051875
property_value: exactMatch http://identifiers.org/mesh/D013631
property_value: exactMatch http://identifiers.org/omim/205400
property_value: exactMatch http://identifiers.org/snomedct/723579009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039292
property_value: exactMatch NCIT:C85182
property_value: exactMatch Orphanet:31150

[Term]
id: MONDO:0008784
name: obsolete autoimmune hemolytic anemia
is_obsolete: true
replaced_by: MONDO:0020108

[Term]
id: MONDO:0008785
name: sideroblastic anemia 2
synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [OMIM:205950]
synonym: "anemia, sideroblastic, 2, pyridoxine-refractory; SIDBA2" RELATED [OMIM:205950]
synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [OMIM:205950]
synonym: "pyridoxine refractory sideroblastic anemia" RELATED [GARD:0008249]
synonym: "SIDBA2" RELATED [OMIM:205950]
synonym: "sideroblastic anemia pyridoxine-refractory autosomal recessive" RELATED [GARD:0008249]
xref: DOID:0060065 {source="MONDO:equivalentTo"}
xref: GARD:0008249 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567145 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:205950 {source="DOID:0060065", source="MONDO:equivalentTo"}
is_a: MONDO:0016828 ! autosomal recessive sideroblastic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673914
property_value: exactMatch DOID:0060065
property_value: exactMatch http://identifiers.org/mesh/C567145
property_value: exactMatch http://identifiers.org/omim/205950

[Term]
id: MONDO:0008786
name: pyridoxine-responsive sideroblastic anemia
synonym: "anemia congenital sideroblastic B6-responsive" RELATED [GARD:0009872]
synonym: "anemia, congenital sideroblastic, B6-responsive" RELATED [OMIM:206000]
synonym: "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" RELATED [OMIM:206000]
synonym: "B6-responsive sideroblastic anemia" RELATED [GARD:0009872]
synonym: "sideroblastic anemia pyridoxine-responsive autosomal recessive" RELATED [GARD:0009872]
xref: DOID:0060066 {source="MONDO:equivalentTo"}
xref: GARD:0009872 {source="MONDO:equivalentTo"}
xref: MESH:C565954 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206000 {source="DOID:0060066", source="MONDO:equivalentTo"}
xref: SCTID:191260004 {source="MONDO:equivalentTo"}
xref: UMLS:C0272027 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1859787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206000"}
is_a: MONDO:0015194 {source="DC-OMIM:206000", source="DOID:0060066", source="MESH:C565954", source="MONDOLEX:0008786", source="linkedlifedata"} ! sideroblastic anemia
property_value: exactMatch DOID:0060066
property_value: exactMatch http://identifiers.org/mesh/C565954
property_value: exactMatch http://identifiers.org/omim/206000
property_value: exactMatch http://identifiers.org/snomedct/191260004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859787

[Term]
id: MONDO:0008787
name: microcytic anemia with liver iron overload
def: "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." [Orphanet:83642]
subset: ordo_disease {source="Orphanet:83642"}
synonym: "AHMIO1" RELATED [MONDO:Lexical, OMIM:206100]
synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100]
synonym: "anemia, hypochromic microcytic, with iron overload 1; AHMIO1" RELATED [OMIM:206100]
synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1, OMIM:206100]
synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360]
synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360]
xref: GARD:0012360 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D50.8 {source="Orphanet:83642", source="ORDO:83642/attributed", source="ORDO:83642/ntbt"}
xref: OMIM:206100 {source="ORDO:83642/e", source="Orphanet:83642", source="MONDO:equivalentTo"}
xref: Orphanet:83642 {source="OMIM:206100", source="MONDO:equivalentTo"}
xref: SCTID:711161006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0000104 {source="DC-OMIM:206100", source="OMIM:206100"} ! anemia, hypochromic microcytic with iron overload
is_a: MONDO:0017763 {source="Orphanet:83642"} ! disorder of iron metabolism and transport
is_a: MONDO:0020098 {source="Orphanet:83642"} ! constitutional anemia due to iron metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806153
property_value: exactMatch http://identifiers.org/omim/206100
property_value: exactMatch http://identifiers.org/snomedct/711161006
property_value: exactMatch Orphanet:83642

[Term]
id: MONDO:0008788
name: IRIDA syndrome
def: "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." [Orphanet:209981]
subset: ordo_disease {source="Orphanet:209981"}
synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957, OMIM:206200]
synonym: "IRIDA" RELATED [MONDO:Lexical, OMIM:206200]
synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200]
synonym: "iron-refractory iron deficiency anemia" EXACT [Orphanet:209981]
synonym: "iron-refractory iron deficiency anemia" RELATED [MONDO:Lexical, OMIM:206200]
synonym: "iron-refractory iron deficiency anemia; IRIDA" RELATED [OMIM:206200]
synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200]
xref: GARD:0010957 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D50.8 {source="ORDO:209981/attributed", source="ORDO:209981/ntbt", source="Orphanet:209981"}
xref: MESH:C562385 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="ORDO:209981/e"}
xref: Orphanet:209981 {source="OMIM:206200", source="MONDO:equivalentTo"}
xref: SCTID:722005000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001245 ! microcytic anemia
is_a: MONDO:0020098 {source="Orphanet:209981"} ! constitutional anemia due to iron metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085576
property_value: exactMatch http://identifiers.org/mesh/C562385
property_value: exactMatch http://identifiers.org/omim/206200
property_value: exactMatch http://identifiers.org/snomedct/722005000
property_value: exactMatch Orphanet:209981

[Term]
id: MONDO:0008789
name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane
synonym: "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" EXACT [OMIM:206300]
xref: MESH:C565953 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859786 {source="OMIM:206300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000105 {source="DC-OMIM:206300"} ! anemia, nonspherocytic hemolytic
property_value: exactMatch http://identifiers.org/mesh/C565953
property_value: exactMatch http://identifiers.org/omim/206300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859786

[Term]
id: MONDO:0008790
name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
synonym: "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" RELATED [OMIM:206400]
xref: MESH:C565952 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206400 {source="MONDO:equivalentTo"}
xref: UMLS:C1859785 {source="OMIM:206400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000105 {source="DC-OMIM:206400"} ! anemia, nonspherocytic hemolytic
property_value: exactMatch http://identifiers.org/mesh/C565952
property_value: exactMatch http://identifiers.org/omim/206400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859785

[Term]
id: MONDO:0008791
name: isolated anencephaly/exencephaly
def: "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." [Orphanet:1048]
subset: ordo_morphological_anomaly {source="Orphanet:1048"}
synonym: "absence of a large part of the brain and the skull" RELATED [GARD:0005808]
synonym: "anencephaly" RELATED [OMIM:206500]
synonym: "anencephaly; ANPH" RELATED [OMIM:206500]
synonym: "ANPH" RELATED [OMIM:206500]
xref: GARD:0005808 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q00.0 {source="ORDO:1048/specific", source="Orphanet:1048", source="ORDO:1048/e"}
xref: ICD9:740.0 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:206500 {source="Orphanet:1048", source="ORDO:1048/e", source="MONDO:equivalentTo"}
xref: Orphanet:1048 {source="OMIM:206500", source="MONDO:equivalentTo"}
xref: SCTID:89369001 {source="MONDO:kboom-pr-0.69/0.37/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1048"} ! syndromic intellectual disability
is_a: MONDO:0000819 ! anencephaly
is_a: MONDO:0015159 {source="Orphanet:1048"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017059 {source="Orphanet:1048"} ! neural tube closure defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002902
property_value: exactMatch http://identifiers.org/omim/206500
property_value: exactMatch http://identifiers.org/snomedct/89369001
property_value: exactMatch Orphanet:1048

[Term]
id: MONDO:0008792
name: familial angiolipomatosis
def: "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." [Orphanet:199279]
subset: ordo_disease {source="Orphanet:199279"}
synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550]
synonym: "angiolipomatosis, familial" RELATED [OMIM:206550]
xref: ICD10:D17.9 {source="Orphanet:199279", source="ORDO:199279/attributed", source="ORDO:199279/ntbt"}
xref: MESH:C565951 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206550 {source="Orphanet:199279", source="ORDO:199279/e", source="MONDO:equivalentTo"}
xref: Orphanet:199279 {source="MONDO:equivalentTo", source="OMIM:206550"}
xref: UMLS:C1859784 {source="Orphanet:199279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206550"}
is_a: MONDO:0019296 {source="Orphanet:199279"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C565951
property_value: exactMatch http://identifiers.org/omim/206550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859784
property_value: exactMatch Orphanet:199279

[Term]
id: MONDO:0008793
name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
subset: gard_rare {source="GARD:0008587"}
synonym: "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" EXACT [OMIM:206570]
synonym: "Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin" RELATED [GARD:0008587]
synonym: "Divry-Van Bogaert syndrome" RELATED [OMIM:206570]
xref: GARD:0008587 {source="MONDO:equivalentTo"}
xref: MESH:C536367 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206570 {source="MONDO:equivalentTo"}
xref: UMLS:C1859783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206570"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536367
property_value: exactMatch http://identifiers.org/omim/206570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859783
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert xsd:anyURI {source="GARD:0008587"}

[Term]
id: MONDO:0008794
name: anhidrosis, familial generalized, with abnormal or absent sweat glands
synonym: "anhidrosis, familial generalized, with abnormal or absent sweat glands" EXACT [OMIM:206600]
xref: OMIM:206600 {source="MONDO:equivalentTo"}
xref: UMLS:C4225670 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006527 ! anhidrosis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003028
property_value: exactMatch http://identifiers.org/omim/206600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225670

[Term]
id: MONDO:0008795
name: aniridia-cerebellar ataxia-intellectual disability syndrome
def: "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." [Orphanet:1065]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1065"}
synonym: "aniridia, cerebellar ataxia and mental deficiency" RELATED [GARD:0000013]
synonym: "aniridia, cerebellar ataxia, and mental retardation" RELATED [OMIM:206700]
synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065]
synonym: "GILLESPIE syndrome; GLSP" RELATED [OMIM:206700]
synonym: "GLSP" RELATED [OMIM:206700]
xref: GARD:0000013 {source="MONDO:equivalentTo"}
xref: ICD10:G11.0 {source="Orphanet:1065", source="ORDO:1065/attributed", source="ORDO:1065/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="ORDO:1065/e"}
xref: Orphanet:1065 {source="GARD:0000013", source="MONDO:equivalentTo", source="OMIM:206700"}
xref: SCTID:253176002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0431401 {source="Orphanet:1065", source="GARD:0000013", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206700", source="ORDO:1065/e"}
is_a: MONDO:0000508 {source="Orphanet:1065"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020148 {source="Orphanet:1065"} ! syndromic aniridia
is_a: MONDO:0020222 {source="Orphanet:1065"} ! rare disease with glaucoma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536370
property_value: exactMatch http://identifiers.org/omim/206700
property_value: exactMatch http://identifiers.org/snomedct/253176002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431401
property_value: exactMatch Orphanet:1065

[Term]
id: MONDO:0008796
name: aniridia-renal agenesis-psychomotor retardation syndrome
def: "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974." [Orphanet:1064]
subset: ordo_malformation_syndrome {source="Orphanet:1064"}
synonym: "aniridia partial with unilateral renal agenesis and psychomotor retardation" RELATED [GARD:0000690]
synonym: "aniridia renal agenesis psychomotor retardation" RELATED [GARD:0000690]
synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [OMIM:206750]
synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690]
synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064]
xref: GARD:0000690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1064/attributed", source="ORDO:1064/ntbt", source="Orphanet:1064"}
xref: MESH:C000598722 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206750 {source="MONDO:equivalentTo", source="Orphanet:1064", source="ORDO:1064/e"}
xref: Orphanet:1064 {source="OMIM:206750", source="MONDO:equivalentTo"}
xref: SCTID:733116005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859782 {source="OMIM:206750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1064", source="ORDO:1064/e"}
is_a: MONDO:0000508 {source="Orphanet:1064"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1064"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:1064"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020148 {source="Orphanet:1064"} ! syndromic aniridia
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C000598722
property_value: exactMatch http://identifiers.org/mesh/C536371
property_value: exactMatch http://identifiers.org/omim/206750
property_value: exactMatch http://identifiers.org/snomedct/733116005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859782
property_value: exactMatch Orphanet:1064

[Term]
id: MONDO:0008797
name: anodontia
def: "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." [Orphanet:99797]
subset: gard_rare {source="GARD:0005818"}
subset: ordo_morphological_anomaly {source="Orphanet:99797"}
synonym: "absence of permanent teeth" RELATED [GARD:0005818]
synonym: "anodontia of permanent dentition" RELATED [OMIM:206780]
synonym: "complete absence of teeth" EXACT [DOID:13714, MTHICD9_2006:520.0]
synonym: "developmental absence of tooth" EXACT [DOID:13714]
synonym: "teeth, permanent, absence of" RELATED [OMIM:206780]
synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714]
xref: COHD:440438 {source="MONDO:equivalentTo"}
xref: DOID:13714 {source="MONDO:equivalentTo"}
xref: GARD:0005818 {source="MONDO:equivalentTo"}
xref: ICD10:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/specific", source="ORDO:99797/e"}
xref: ICD9:520.0 {source="DOID:13714"}
xref: MedDRA:10002583 {source="Orphanet:99797", source="ORDO:99797/e"}
xref: MESH:D000848 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/e"}
xref: OMIM:206780 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/e"}
xref: Orphanet:99797 {source="MONDO:equivalentTo", source="OMIM:206780"}
xref: SCTID:16958000 {source="MONDO:kboom-pr-0.86/0.64/0.69", source="DOID:13714", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:99797"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:99797"} ! rare genetic odontal or periodontal disorder
property_value: closeMatch http://identifiers.org/snomedct/196265005
property_value: closeMatch http://identifiers.org/snomedct/196266006
property_value: closeMatch http://identifiers.org/snomedct/196269004
property_value: closeMatch http://identifiers.org/snomedct/234951001
property_value: closeMatch http://identifiers.org/snomedct/26624006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399352
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1290511
property_value: exactMatch DOID:13714
property_value: exactMatch http://identifiers.org/meddra/10002583
property_value: exactMatch http://identifiers.org/mesh/D000848
property_value: exactMatch http://identifiers.org/omim/206780
property_value: exactMatch http://identifiers.org/snomedct/16958000
property_value: exactMatch Orphanet:99797
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5818/anodontia xsd:anyURI {source="GARD:0005818"}

[Term]
id: MONDO:0008798
name: nonsyndromic congenital nail disorder 4
def: "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:94150"}
synonym: "anonychia congenita" RELATED [DOID:0050643]
synonym: "anonychia congenita totalis" RELATED [Orphanet:94150]
synonym: "anonychia totalis" RELATED [OMIM:206800]
synonym: "anonychia/hyponychia congenita" RELATED [OMIM:206800]
synonym: "HYPONYCHIA congenita" EXACT [DOID:0050643]
synonym: "isolated congenital anonychia caused by mutation in RSPO4" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical, OMIM:206800]
synonym: "nail disorder, nonsyndromic congenital, 4; NDNC4" RELATED [OMIM:206800]
synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1, OMIM:206800]
synonym: "NDNC4" RELATED [MONDO:Lexical, OMIM:206800]
synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MONDORULE:1]
synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050643 {source="MONDO:equivalentTo"}
xref: DOID:0080082 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.3 {source="ORDO:94150/attributed", source="ORDO:94150/ntbt", source="Orphanet:94150"}
xref: MESH:C536377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206800 {source="MONDO:subClassOf", source="DOID:0050643", source="MONDO:equivalentTo", source="ORDO:94150/e", source="DOID:0080082", source="Orphanet:94150"}
xref: Orphanet:94150 {source="MONDO:equivalentTo", source="OMIM:206800"}
is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:94150"} ! isolated congenital anonychia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265998
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277900
property_value: exactMatch DOID:0050643
property_value: exactMatch DOID:0080082
property_value: exactMatch http://identifiers.org/mesh/C536377
property_value: exactMatch http://identifiers.org/omim/206800
property_value: exactMatch Orphanet:94150

[Term]
id: MONDO:0008799
name: anophthalmia/microphthalmia-esophageal atresia syndrome
def: "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." [Orphanet:77298]
subset: ordo_malformation_syndrome {source="Orphanet:77298"}
synonym: "Aeg syndrome" RELATED [OMIM:206900]
synonym: "anophthalmia clinical with associated anomalies" RELATED [GARD:0001443]
synonym: "anophthalmia esophageal genital syndrome" RELATED [GARD:0001443]
synonym: "anophthalmia microphthalmia esophageal atresia" RELATED [GARD:0001443]
synonym: "anophthalmia, clinical, with associated anomalies" RELATED [OMIM:206900]
synonym: "anophthalmia-esophageal-genital syndrome" RELATED [OMIM:206900]
synonym: "MCOPS3" EXACT [MONDO:Lexical, OMIM:206900, Orphanet:77298]
synonym: "microphthalmia and esophageal atresia syndrome" RELATED [OMIM:206900]
synonym: "microphthalmia, syndromic 3" RELATED [MONDO:Lexical, OMIM:206900]
synonym: "microphthalmia, syndromic 3; MCOPS3" RELATED [OMIM:206900]
synonym: "microphthalmia, syndromic type 3" EXACT [MONDORULE:1, OMIM:206900]
synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" RELATED [OMIM:206900]
synonym: "SOX2 anophthalmia syndrome" RELATED [GARD:0001443]
synonym: "SOX2-related eye disorders" RELATED [GARD:0001443]
synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298]
synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443]
xref: GARD:0001443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:77298/attributed", source="ORDO:77298/ntbt", source="Orphanet:77298"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:206900 {source="MONDO:equivalentTo", source="ORDO:77298/e", source="Orphanet:77298"}
xref: Orphanet:77298 {source="MONDO:equivalentTo", source="OMIM:206900"}
xref: SCTID:698851003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
is_a: MONDO:0015208 {source="Orphanet:77298"} ! syndromic esophageal malformation
is_a: MONDO:0016073 {source="DC-OMIM:206900", source="MONDOLEX:0008799", source="OMIM:206900", source="Orphanet:77298"} ! syndromic microphthalmia
is_a: MONDO:0019827 {source="Orphanet:77298"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0043007 {source="Orphanet:77298"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859773
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859774
property_value: exactMatch http://identifiers.org/omim/206900
property_value: exactMatch http://identifiers.org/snomedct/698851003
property_value: exactMatch Orphanet:77298

[Term]
id: MONDO:0008800
name: microphthalmia with limb anomalies
def: "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." [Orphanet:1106]
subset: ordo_malformation_syndrome {source="Orphanet:1106"}
synonym: "anophthalmia Waardenburg syndrome" RELATED [GARD:0000722]
synonym: "anophthalmia-syndactyly" RELATED [OMIM:206920]
synonym: "anophthalmia-syndactyly syndrome" EXACT [DOID:0060861, Orphanet:1106]
synonym: "anophthalmos with limb anomalies" RELATED [GARD:0000722]
synonym: "anophthalmos-syndactyly" RELATED [GARD:0000722]
synonym: "microphthalmia with limb anomalies" EXACT [MONDO:Lexical, OMIM:206920]
synonym: "microphthalmia with limb anomalies; MLA" RELATED [OMIM:206920]
synonym: "MLA" EXACT [DOID:0060861]
synonym: "MLA" RELATED [MONDO:Lexical, OMIM:206920]
synonym: "OAS" EXACT [DOID:0060861, Orphanet:1106]
synonym: "Ophthalmoacromelic syndrome" EXACT [OMIM:206920, Orphanet:1106]
synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861]
synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106]
xref: DOID:0060861 {source="MONDO:equivalentTo"}
xref: GARD:0000722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="DOID:0060861", source="ORDO:1106/attributed", source="ORDO:1106/ntbt", source="Orphanet:1106"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537769 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:206920 {source="DOID:0060861", source="MONDO:equivalentTo", source="ORDO:1106/e", source="Orphanet:1106"}
xref: Orphanet:1106 {source="DOID:0060861", source="MONDO:equivalentTo", source="OMIM:206920"}
xref: SCTID:703403003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.36"}
is_a: MONDO:0006025 {source="DOID:0060861", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015218 {source="Orphanet:1106"} ! syndromic developmental defect of the eye
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1106"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0599973
property_value: exactMatch DOID:0060861
property_value: exactMatch http://identifiers.org/mesh/C537769
property_value: exactMatch http://identifiers.org/omim/206920
property_value: exactMatch http://identifiers.org/snomedct/703403003
property_value: exactMatch Orphanet:1106

[Term]
id: MONDO:0008801
name: anosmia for isobutyric acid
synonym: "anosmia for isobutyric acid" EXACT [OMIM:207000]
xref: OMIM:207000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859762
property_value: exactMatch http://identifiers.org/omim/207000

[Term]
id: MONDO:0008802
name: antithrombin, familial hemorrhagic diathesis due to
synonym: "antithrombin, familial hemorrhagic diathesis due to" EXACT [OMIM:207300]
xref: MESH:C565947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:207300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859761 {source="OMIM:207300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565947
property_value: exactMatch http://identifiers.org/omim/207300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859761

[Term]
id: MONDO:0008803
name: Antley-Bixler syndrome
def: "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." [Orphanet:83]
subset: gard_rare {source="GARD:0005826"}
subset: ordo_malformation_syndrome {source="Orphanet:83"}
synonym: "Antley Bixler syndrome" RELATED [GARD:0005826]
synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410]
synonym: "osteodysgenesis, multisynostotic with fractures" RELATED [GARD:0005826]
synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410]
synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826]
synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462]
synonym: "trapezoidocephaly-synostosis syndrome" RELATED [OMIM:207410]
xref: DOID:0050462 {source="MONDO:equivalentTo"}
xref: GARD:0005826 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:83", source="ORDO:83/attributed", source="ORDO:83/ntbt"}
xref: Orphanet:83 {source="OMIM:207410", source="MONDO:equivalentTo"}
xref: SCTID:62964007 {source="DOID:0050462", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0011679 ! craniosynostosis syndrome, autosomal recessive
is_a: MONDO:0015338 {source="Orphanet:83"} ! syndromic craniosynostosis
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:83"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/mesh/D054882
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860042
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2350233
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936791
property_value: exactMatch DOID:0050462
property_value: exactMatch http://identifiers.org/mesh/C537780
property_value: exactMatch http://identifiers.org/omim/207410
property_value: exactMatch http://identifiers.org/snomedct/62964007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265307
property_value: exactMatch Orphanet:83
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome xsd:anyURI {source="GARD:0005826"}

[Term]
id: MONDO:0008804
name: obsolete anus, imperforate
is_obsolete: true
replaced_by: MONDO:0010530

[Term]
id: MONDO:0008805
name: obsolete Takayasu's arteritis
is_obsolete: true
replaced_by: MONDO:0017991

[Term]
id: MONDO:0008806
name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
def: "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." [Orphanet:1112]
subset: ordo_malformation_syndrome {source="Orphanet:1112"}
synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" RELATED [GARD:0003051]
synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620]
synonym: "Johnson Munson syndrome" RELATED [GARD:0003051]
synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112]
xref: GARD:0003051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1112", source="ORDO:1112/attributed", source="ORDO:1112/ntbt"}
xref: MESH:C535881 {source="Orphanet:1112", source="ORDO:1112/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:207620 {source="Orphanet:1112", source="ORDO:1112/e", source="MONDO:equivalentTo"}
xref: Orphanet:1112 {source="OMIM:207620", source="MONDO:equivalentTo"}
xref: SCTID:733118006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859754 {source="Orphanet:1112", source="OMIM:207620", source="ORDO:1112/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:1112"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:1112", source="Orphanet:1112/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535881
property_value: exactMatch http://identifiers.org/omim/207620
property_value: exactMatch http://identifiers.org/snomedct/733118006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859754
property_value: exactMatch Orphanet:1112

[Term]
id: MONDO:0008807
name: apnea, central sleep
comment: See https://github.com/monarch-initiative/mondo/issues/46
synonym: "apnea, central sleep" EXACT [OMIM:107640, OMIM:207720]
synonym: "sleep apnea, lethal central" RELATED [OMIM:207720]
xref: OMIM:107640 {source="MONDO:equivalentTo"}
xref: OMIM:207720 {source="MONDO:equivalentTo"}
xref: UMLS:C0520680 {source="OMIM:107640", source="OMIM:207720", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004731 {source="MONDOLEX:0008807"} ! central sleep apnea syndrome
property_value: exactMatch http://identifiers.org/omim/107640
property_value: exactMatch http://identifiers.org/omim/207720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520680

[Term]
id: MONDO:0008808
name: aplasia cutis congenita-intestinal lymphangiectasia syndrome
def: "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." [Orphanet:1116]
subset: ordo_disease {source="Orphanet:1116"}
synonym: "ACC with intestinal lymphangiectasia" RELATED [OMIM:207731]
synonym: "aplasia cutis congenita intestinal lymphangiectasia" RELATED [GARD:0000753]
synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMIM:207731]
synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116]
synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116]
xref: GARD:0000753 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="ORDO:1116/e", source="MONDO:ontobio"}
xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="ORDO:1116/e"}
xref: Orphanet:1116 {source="OMIM:207731", source="MONDO:equivalentTo"}
xref: SCTID:720500008 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:1116"} ! intestinal disease
is_a: MONDO:0015331 {source="Orphanet:1116"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0018722 {source="Orphanet:1116"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019294 {source="Orphanet:1116"} ! mixed dermis disorder
is_a: MONDO:0019520 {source="Orphanet:1116"} ! syndromic lymphedema
property_value: exactMatch http://identifiers.org/mesh/C537788
property_value: exactMatch http://identifiers.org/omim/207731
property_value: exactMatch http://identifiers.org/snomedct/720500008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859753
property_value: exactMatch Orphanet:1116

[Term]
id: MONDO:0008809
name: polyneuropathy-hand defect syndrome
def: "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." [Orphanet:2926]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2926"}
synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740]
synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" RELATED [GARD:0002589, MESH:C535624]
synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926]
synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589]
synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926]
synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589]
xref: GARD:0002589 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2926", source="ORDO:2926/attributed", source="ORDO:2926/ntbt"}
xref: MESH:C535624 {source="MONDO:equivalentTo"}
xref: OMIM:207740 {source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926", source="ORDO:2926/e"}
xref: Orphanet:2926 {source="OMIM:207740", source="GARD:0002589", source="MONDO:equivalentTo"}
xref: UMLS:C2930955 {source="GARD:0002589", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2926"}
is_a: MONDO:0015358 {source="Orphanet:2926"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015364 {source="MESH:C535624"} ! hereditary sensory and autonomic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859752
property_value: exactMatch http://identifiers.org/mesh/C535624
property_value: exactMatch http://identifiers.org/omim/207740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930955
property_value: exactMatch Orphanet:2926
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome xsd:anyURI {source="GARD:0002589"}

[Term]
id: MONDO:0008810
name: familial apolipoprotein C-II deficiency
subset: ordo_clinical_subtype {source="Orphanet:309020"}
synonym: "Apoc2 deficiency" RELATED [OMIM:207750]
synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750]
synonym: "C-II Anapolipoproteinemia" RELATED [OMIM:207750]
synonym: "familial apoC-II deficiency" EXACT [Orphanet:309020]
synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750]
synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432]
xref: ICD10:E78.3 {source="Orphanet:309020", source="ORDO:309020/attributed", source="ORDO:309020/ntbt"}
xref: OMIM:207750 {source="ORDO:309020/e", source="Orphanet:309020", source="MONDO:equivalentTo"}
xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"}
xref: SCTID:33513003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.09"}
xref: UMLS:C0268199 {source="ORDO:309020/e", source="Orphanet:309020", source="MONDO:equivalentTo"}
xref: UMLS:C1720779 {source="OMIM:207750", source="NCBI:mim2gene_medline", source="Orphanet:309020", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001336 {source="DC-OMIM:207750", source="indirect"} ! familial hyperlipidemia
is_a: MONDO:0018637 {source="Orphanet:309020"} ! familial chylomicronemia syndrome
property_value: exactMatch http://identifiers.org/omim/207750
property_value: exactMatch http://identifiers.org/snomedct/33513003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720779
property_value: exactMatch Orphanet:309020

[Term]
id: MONDO:0008811
name: XK aprosencephaly
def: "XK aprosencephaly is a very rare syndromic type of cerebral malformation (see this term) characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." [Orphanet:3469]
subset: gard_rare {source="GARD:0000424"}
subset: ordo_malformation_syndrome {source="Orphanet:3469"}
synonym: "aprosencephaly syndrome" RELATED [OMIM:207770]
synonym: "aprosencephaly-atelencephaly syndrome" RELATED [GARD:0000424]
synonym: "atelencephaly" EXACT [Orphanet:3469]
synonym: "Garcia-Lurie syndrome" EXACT [OMIM:207770, Orphanet:3469]
synonym: "XK aprosencephaly syndrome" RELATED [Orphanet:3469]
synonym: "Xk syndrome" RELATED [OMIM:207770]
synonym: "XK-aprosencephaly" EXACT [Orphanet:3469]
synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424]
xref: GARD:0000424 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:3469/ntbt", source="Orphanet:3469"}
xref: MESH:C536767 {source="ORDO:3469/e", source="MONDO:equivalentTo", source="Orphanet:3469", source="MONDO:ontobio"}
xref: OMIM:207770 {source="ORDO:3469/e", source="MONDO:equivalentTo", source="Orphanet:3469"}
xref: Orphanet:3469 {source="MONDO:equivalentTo", source="OMIM:207770"}
xref: SCTID:277921008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0795952 {source="ORDO:3469/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3469", source="OMIM:207770"}
is_a: MONDO:0017118 {source="Orphanet:3469"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C536767
property_value: exactMatch http://identifiers.org/omim/207770
property_value: exactMatch http://identifiers.org/snomedct/277921008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795952
property_value: exactMatch Orphanet:3469
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly xsd:anyURI {source="GARD:0000424"}

[Term]
id: MONDO:0008812
name: AREDYLD syndrome
def: "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." [Orphanet:1133]
subset: ordo_malformation_syndrome {source="Orphanet:1133"}
synonym: "acral renal ectodermal dysplasia lipoatrophic diabetes" RELATED [GARD:0008509]
synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphanet:1133]
synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780]
synonym: "AREDYLD" RELATED [OMIM:207780]
xref: GARD:0008509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1133", source="ORDO:1133/attributed", source="ORDO:1133/ntbt"}
xref: ICD9:753.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537427 {source="ORDO:1133/e", source="Orphanet:1133", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:207780 {source="ORDO:1133/e", source="Orphanet:1133", source="MONDO:equivalentTo"}
xref: Orphanet:1133 {source="MONDO:equivalentTo", source="OMIM:207780"}
xref: SCTID:237610008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.90"}
xref: UMLS:C0342280 {source="ORDO:1133/e", source="Orphanet:1133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207780"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015888 {source="Orphanet:1133"} ! other rare diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019287 {source="MESH:C537427", source="MONDOLEX:0008812", source="Orphanet:1133"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019721 {source="Orphanet:1133"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C537427
property_value: exactMatch http://identifiers.org/omim/207780
property_value: exactMatch http://identifiers.org/snomedct/237610008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342280
property_value: exactMatch Orphanet:1133

[Term]
id: MONDO:0008813
name: arachnoid cyst
def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:2356"}
synonym: "arachnoid cysts" RELATED [GARD:0000017]
xref: GARD:0000017 {source="MONDO:equivalentTo"}
xref: ICD10:G93.0 {source="Orphanet:2356", source="ORDO:2356/ntbt", source="ORDO:2356/inclusion"}
xref: MedDRA:10049005 {source="ORDO:2356/e", source="Orphanet:2356"}
xref: MESH:D016080 {source="ORDO:2356/e", source="Orphanet:2356", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2356 {source="GARD:0000017", source="MONDO:equivalentTo", source="OMIM:207790"}
xref: SCTID:33595009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0078981 {source="ORDO:2356/e", source="Orphanet:2356", source="MONDO:equivalentTo"}
is_a: MONDO:0017104 {source="Orphanet:2356"} ! central nervous system cystic malformation
relationship: disease_has_feature MONDO:0019834 {source="Orphanet:2356"} ! pituitary hormone deficiency from meningeal origin
relationship: excluded_subClassOf MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:2356", source="Orphanet:2356/inferred"} ! obsolete rare genetic developmental defect during embryogenesis
property_value: exactMatch http://identifiers.org/meddra/10049005
property_value: exactMatch http://identifiers.org/mesh/D016080
property_value: exactMatch http://identifiers.org/snomedct/33595009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078981
property_value: exactMatch Orphanet:2356
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts xsd:string

[Term]
id: MONDO:0008814
name: hyperargininemia
def: "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." [Orphanet:90]
subset: ordo_disease {source="Orphanet:90"}
synonym: "Arg1 deficiency" RELATED [OMIM:207800]
synonym: "arginase deficiency" EXACT [OMIM:207800, Orphanet:90]
synonym: "argininemia" EXACT [CSP2005:1849-9378, DOID:9278]
synonym: "deficiency of canavanase" EXACT [DOID:9278]
synonym: "hyperargininemia" EXACT [OMIM:207800, Orphanet:90]
xref: DOID:9278 {source="MONDO:equivalentTo"}
xref: GARD:0005840 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.2 {source="ORDO:90/attributed", source="ORDO:90/ntbt", source="Orphanet:90"}
xref: ICD10:E72.21 {source="DOID:9278"}
xref: MedDRA:10062695 {source="Orphanet:90", source="ORDO:90/e"}
xref: MESH:D020162 {source="MONDO:equivalentTo", source="Orphanet:90", source="ORDO:90/e", source="MONDO:ontobio", source="DOID:9278"}
xref: NCIT:C84568 {source="MONDO:equivalentTo", source="DOID:9278"}
xref: OMIM:207800 {source="MONDO:equivalentTo", source="Orphanet:90", source="ORDO:90/e", source="DOID:9278"}
xref: Orphanet:90 {source="MONDO:equivalentTo", source="OMIM:207800"}
xref: SCTID:23501004 {source="MONDO:equivalentTo", source="DOID:9278", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207800", source="Orphanet:90", source="ORDO:90/e", source="DOID:9278"}
is_a: MONDO:0019217 {source="Orphanet:90"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://identifiers.org/snomedct/124518006
property_value: exactMatch DOID:9278
property_value: exactMatch http://identifiers.org/meddra/10062695
property_value: exactMatch http://identifiers.org/mesh/D020162
property_value: exactMatch http://identifiers.org/omim/207800
property_value: exactMatch http://identifiers.org/snomedct/23501004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268548
property_value: exactMatch NCIT:C84568
property_value: exactMatch Orphanet:90

[Term]
id: MONDO:0008815
name: argininosuccinic aciduria
def: "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." [Orphanet:23]
subset: gard_rare {source="GARD:0005843"}
subset: ordo_disease {source="Orphanet:23"}
synonym: "arginino succinase deficiency" RELATED [GARD:0005843]
synonym: "argininosuccinase deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "argininosuccinate acidemia" RELATED [GARD:0005843]
synonym: "argininosuccinate lyase deficiency" RELATED [OMIM:207900]
synonym: "argininosuccinatelyase deficiency" EXACT [Orphanet:23]
synonym: "argininosuccinic acid lyase deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "argininosuccinic acidemia" EXACT [DOID:14755]
synonym: "argininosuccinic aciduria" EXACT [OMIM:207900]
synonym: "argininosuccinicaciduria" RELATED [GARD:0005843]
synonym: "arginosuccinase deficiency" EXACT [CSP2005:1849-9435, DOID:14755]
synonym: "ASA deficiency" EXACT [Orphanet:23]
synonym: "ASL deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "deficiency of argininosuccinate lyase" EXACT [DOID:14755]
synonym: "inborn error of urea synthesis, arginino succinic type" RELATED [GARD:0005843]
synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843]
xref: DOID:14755 {source="MONDO:equivalentTo"}
xref: GARD:0005843 {source="MONDO:equivalentTo"}
xref: ICD10:E72.2 {source="Orphanet:23", source="ORDO:23/inclusion", source="ORDO:23/ntbt"}
xref: MedDRA:10058299 {source="Orphanet:23", source="ORDO:23/e"}
xref: MESH:D056807 {source="Orphanet:23", source="ORDO:23/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14755"}
xref: NCIT:C84569 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14755"}
xref: OMIM:207900 {source="Orphanet:23", source="ORDO:23/e", source="MONDO:equivalentTo", source="DOID:14755"}
xref: Orphanet:23 {source="MONDO:equivalentTo", source="OMIM:207900"}
xref: SCTID:41013004 {source="MONDO:kboom-pr-0.92/0.84/0.07", source="MONDO:equivalentTo", source="DOID:14755"}
xref: UMLS:C0268547 {source="Orphanet:23", source="NCIT:C84569", source="ORDO:23/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207900", source="DOID:14755"}
is_a: MONDO:0019217 {source="Orphanet:23"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://identifiers.org/snomedct/124630007
property_value: exactMatch DOID:14755
property_value: exactMatch http://identifiers.org/meddra/10058299
property_value: exactMatch http://identifiers.org/mesh/D056807
property_value: exactMatch http://identifiers.org/omim/207900
property_value: exactMatch http://identifiers.org/snomedct/41013004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268547
property_value: exactMatch NCIT:C84569
property_value: exactMatch Orphanet:23
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria xsd:anyURI {source="GARD:0005843"}

[Term]
id: MONDO:0008816
name: Chiari malformation type II
def: "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." [Orphanet:1136]
subset: ordo_morphological_anomaly {source="Orphanet:1136"}
synonym: "Arnold Chiari malformation type II" RELATED [GARD:0009232]
synonym: "Arnold-Chiari malformation" RELATED [OMIM:207950]
synonym: "Arnold-Chiari malformation type 2" EXACT [Orphanet:1136]
synonym: "Arnold-Chiari malformation type II" EXACT [Orphanet:1136]
synonym: "Chiari malformation type 2" EXACT [Orphanet:1136]
synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136]
synonym: "Chiari type II malformation" RELATED [GARD:0009232]
synonym: "Cm2" RELATED [OMIM:207950]
xref: GARD:0009232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q07.0 {source="ORDO:1136/specific", source="Orphanet:1136", source="ORDO:1136/e"}
xref: MedDRA:10056945 {source="Orphanet:1136", source="ORDO:1136/e"}
xref: OMIM:207950 {source="Orphanet:1136", source="ORDO:1136/e", source="MONDO:equivalentTo"}
xref: Orphanet:1136 {source="OMIM:207950", source="MONDO:equivalentTo"}
xref: SCTID:373587001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0000115 {source="DC-OMIM:207950", source="linkedlifedata"} ! Chiari malformation
is_a: MONDO:0017069 {source="Orphanet:1136"} ! spina bifida cystica
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003803
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0555206
property_value: exactMatch http://identifiers.org/meddra/10056945
property_value: exactMatch http://identifiers.org/omim/207950
property_value: exactMatch http://identifiers.org/snomedct/373587001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750930
property_value: exactMatch Orphanet:1136

[Term]
id: MONDO:0008817
name: arterial calcification, generalized, of infancy, 1
def: "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." [NCIT:C128805]
synonym: "arterial calcification of infancy caused by mutation in ENPP1" EXACT [MONDO:design_pattern]
synonym: "arterial calcification, generalized, of infancy, 1" EXACT [MONDO:Lexical, OMIM:208000]
synonym: "arterial calcification, generalized, of infancy, 1; GACI1" RELATED [OMIM:208000]
synonym: "arterial calcification, generalized, of infancy, type 1" EXACT [MONDORULE:1, OMIM:208000]
synonym: "arterial calcification, idiopathic infantile" RELATED [OMIM:208000]
synonym: "arteriopathy, occlusive infantile" RELATED [OMIM:208000]
synonym: "coronary sclerosis, medial, of infancy" RELATED [OMIM:208000]
synonym: "ENPP1 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Gaci" RELATED [OMIM:208000]
synonym: "GACI1" RELATED [MONDO:Lexical, OMIM:208000]
synonym: "generalized arterial calcification of infancy 1" EXACT [NCIT:C128805]
synonym: "idiopathic infantile arterial calcification" RELATED [OMIM:208000]
xref: NCIT:C128805 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
xref: OMIM:208000 {source="MONDO:equivalentTo"}
is_a: MONDO:0018870 {source="DC-OMIM:208000", source="MONDO:Redundant", source="OMIM:208000"} ! arterial calcification of infancy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859728
property_value: exactMatch http://identifiers.org/omim/208000
property_value: exactMatch NCIT:C128805

[Term]
id: MONDO:0008818
name: arterial tortuosity syndrome
def: "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." [Orphanet:3342]
subset: ordo_malformation_syndrome {source="Orphanet:3342"}
synonym: "arterial tortuosity" RELATED [OMIM:208050]
synonym: "arterial tortuosity syndrome" EXACT [MONDO:Lexical, OMIM:208050]
synonym: "arterial tortuosity syndrome; ATS" RELATED [OMIM:208050]
synonym: "ATS" RELATED [MONDO:Lexical, OMIM:208050, Orphanet:3342]
xref: DOID:0050645 {source="MONDO:equivalentTo"}
xref: GARD:0000774 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I77.1 {source="Orphanet:3342", source="ORDO:3342/attributed", source="ORDO:3342/ntbt"}
xref: ICD10:Q87.82 {source="MONDO:equivalentTo"}
xref: MESH:C565942 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="ORDO:3342/e"}
xref: Orphanet:3342 {source="MONDO:equivalentTo", source="OMIM:208050"}
xref: SCTID:458432002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1859726 {source="Orphanet:3342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208050"}
is_a: MONDO:0003900 {source="DOID:0050645"} ! connective tissue disease
is_a: MONDO:0016175 {source="Orphanet:3342"} ! cutis laxa
is_a: MONDO:0017311 {source="Orphanet:3342"} ! rare disease with thoracic aortic aneurysm and aortic dissection
property_value: exactMatch DOID:0050645
property_value: exactMatch http://identifiers.org/mesh/C565942
property_value: exactMatch http://identifiers.org/omim/208050
property_value: exactMatch http://identifiers.org/snomedct/458432002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859726
property_value: exactMatch Orphanet:3342

[Term]
id: MONDO:0008819
name: arteriosclerosis, severe juvenile
synonym: "arteriosclerosis, severe juvenile" EXACT [OMIM:208060]
xref: MESH:C565941 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208060 {source="MONDO:equivalentTo"}
xref: UMLS:C1859725 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208060"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565941
property_value: exactMatch http://identifiers.org/omim/208060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859725

[Term]
id: MONDO:0008820
name: arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT [OMIM:208080]
synonym: "Chitayat-Hall syndrome" RELATED [GARD:0010087]
synonym: "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies" RELATED [GARD:0010087]
xref: GARD:0010087 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535385 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208080 {source="MONDO:equivalentTo"}
xref: UMLS:C1859724 {source="OMIM:208080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535385
property_value: exactMatch http://identifiers.org/omim/208080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859724

[Term]
id: MONDO:0008821
name: arthrogryposis, distal, with mental retardation and characteristic facies
synonym: "arthrogryposis, distal, with mental retardation and characteristic facies" EXACT [OMIM:208081]
xref: MESH:C565940 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208081 {source="MONDO:equivalentTo"}
xref: UMLS:C1859723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208081"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565940
property_value: exactMatch http://identifiers.org/omim/208081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859723

[Term]
id: MONDO:0008822
name: arthrogryposis, renal dysfunction, and cholestasis 1
def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Arc syndrome" RELATED [OMIM:208085]
synonym: "ARCS1" RELATED [MONDO:Lexical, OMIM:208085]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT [MONDO:Lexical, OMIM:208085]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 1; ARCS1" RELATED [OMIM:208085]
synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MONDORULE:1, OMIM:208085]
synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" EXACT [MONDO:design_pattern]
synonym: "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:208085 {source="MONDO:equivalentTo"}
is_a: MONDO:0017123 {source="DC-OMIM:208085", source="MONDO:Redundant", source="OMIM:208085", source="ORDO:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome
property_value: exactMatch http://identifiers.org/omim/208085

[Term]
id: MONDO:0008823
name: neurogenic arthrogryposis multiplex congenita
def: "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." [Orphanet:1143]
subset: ordo_disease {source="Orphanet:1143"}
synonym: "AMC neurogenic type" EXACT [DOID:0090124]
synonym: "AMC, neurogenic type" RELATED [OMIM:208100]
synonym: "AMCN" EXACT [DOID:0090124, MONDO:Lexical, OMIM:208100]
synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [DOID:0090124]
synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Lexical, OMIM:208100]
synonym: "arthrogryposis multiplex congenita, neurogenic type; AMCN" RELATED [OMIM:208100]
synonym: "neurogenic type of AMC" RELATED [GARD:0000790]
xref: DOID:0090124 {source="MONDO:equivalentTo"}
xref: GARD:0000790 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q74.3 {source="Orphanet:1143", source="DOID:0090124", source="ORDO:1143/attributed", source="ORDO:1143/ntbt"}
xref: MESH:C536614 {source="Orphanet:1143", source="ORDO:1143/e", source="DOID:0090124", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208100 {source="Orphanet:1143", source="ORDO:1143/e", source="DOID:0090124", source="MONDO:equivalentTo"}
xref: Orphanet:1143 {source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"}
xref: SCTID:715316005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1859721 {source="Orphanet:1143", source="ORDO:1143/e", source="NCBI:mim2gene_medline", source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"}
is_a: MONDO:0015168 {source="Orphanet:1143"} ! arthrogryposis multiplex congenita
property_value: exactMatch DOID:0090124
property_value: exactMatch http://identifiers.org/mesh/C536614
property_value: exactMatch http://identifiers.org/omim/208100
property_value: exactMatch http://identifiers.org/snomedct/715316005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859721
property_value: exactMatch Orphanet:1143

[Term]
id: MONDO:0008824
name: fetal akinesia deformation sequence
def: "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures ( arthrogryposis ), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." [https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence]
subset: gard_rare {source="GARD:0009634"}
subset: ordo_malformation_syndrome {source="Orphanet:994"}
synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [OMIM:208150]
synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [Orphanet:994]
synonym: "FADS" EXACT [MONDO:Lexical, OMIM:208150, Orphanet:994]
synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150]
synonym: "fetal akinesia deformation sequence; FADS" RELATED [OMIM:208150]
synonym: "fetal akinesia sequence" RELATED [OMIM:208150]
xref: GARD:0009634 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:994", source="ORDO:994/attributed", source="ORDO:994/ntbt"}
xref: ICD9:754.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536647 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129071 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:208150 {source="MONDO:equivalentTo"}
xref: SCTID:401138005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0015168 {source="Orphanet:994"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:994"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015929 {source="Orphanet:994"} ! thoracic malformation
is_a: MONDO:0043008 {source="Orphanet:994"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:994"} ! non-syndromic respiratory or mediastinal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1276035
property_value: exactMatch http://identifiers.org/mesh/C536647
property_value: exactMatch http://identifiers.org/snomedct/401138005
property_value: exactMatch NCIT:C129071
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence xsd:anyURI {source="GARD:0009634"}

[Term]
id: MONDO:0008825
name: arthrogryposis multiplex congenita-whistling face syndrome
def: "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." [Orphanet:1150]
subset: ordo_malformation_syndrome {source="Orphanet:1150"}
synonym: "arthrogryposis multiplex congenita whistling face" RELATED [GARD:0000792]
synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED [OMIM:208155]
synonym: "ILLUM syndrome" RELATED [OMIM:208155]
synonym: "Illum syndrome" EXACT [Orphanet:1150]
synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792]
xref: GARD:0000792 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1150", source="ORDO:1150/attributed", source="ORDO:1150/ntbt"}
xref: MESH:C538401 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1150", source="ORDO:1150/e"}
xref: OMIM:208155 {source="MONDO:equivalentTo", source="Orphanet:1150", source="ORDO:1150/e"}
xref: Orphanet:1150 {source="MONDO:equivalentTo", source="OMIM:208155"}
xref: SCTID:720514008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1859711 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1150", source="ORDO:1150/e", source="OMIM:208155"}
is_a: MONDO:0015168 {source="Orphanet:1150"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015501 {source="Orphanet:1150"} ! syndrome or malformation associated with head and neck malformations
property_value: exactMatch http://identifiers.org/mesh/C538401
property_value: exactMatch http://identifiers.org/omim/208155
property_value: exactMatch http://identifiers.org/snomedct/720514008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859711
property_value: exactMatch Orphanet:1150

[Term]
id: MONDO:0008826
name: arthrogryposis-hyperkeratosis syndrome, lethal form
def: "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." [Orphanet:1485]
subset: ordo_malformation_syndrome {source="Orphanet:1485"}
synonym: "arthrogryposis with hyperkeratosis" RELATED [OMIM:208158]
synonym: "Johnston Aarons Schelley syndrome" RELATED [GARD:0003053]
synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485]
synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053]
xref: GARD:0003053 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535883 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208158 {source="ORDO:1485/e", source="Orphanet:1485", source="MONDO:equivalentTo"}
xref: Orphanet:1485 {source="OMIM:208158", source="MONDO:equivalentTo"}
xref: SCTID:726620005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859710 {source="OMIM:208158", source="Orphanet:1485", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:1485"} ! arthrogryposis multiplex congenita
property_value: exactMatch http://identifiers.org/mesh/C535883
property_value: exactMatch http://identifiers.org/omim/208158
property_value: exactMatch http://identifiers.org/snomedct/726620005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859710
property_value: exactMatch Orphanet:1485

[Term]
id: MONDO:0008827
name: progressive pseudorheumatoid arthropathy of childhood
def: "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." [Orphanet:1159]
subset: ordo_disease {source="Orphanet:1159"}
synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical, OMIM:208230]
synonym: "arthropathy, progressive pseudorheumatoid, of childhood; PPAC" RELATED [OMIM:208230]
synonym: "PPAC" RELATED [MONDO:Lexical, OMIM:208230]
synonym: "PPD" RELATED AMBIGUOUS [GARD:0009184]
synonym: "progressive pseudorheumatoid arthropathy of childhood" EXACT [OMIM:208230]
synonym: "progressive pseudorheumatoid chondrodysplasia" RELATED [GARD:0009184]
synonym: "progressive pseudorheumatoid dysplasia" RELATED [OMIM:208230]
synonym: "SEDT-PA" RELATED [GARD:0009184]
synonym: "spondyloepiphyseal dysplasia tarda - progressive arthropathy" RELATED [GARD:0009184]
synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [OMIM:208230]
synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159]
xref: DOID:0090004 {source="MONDO:equivalentTo"}
xref: GARD:0009184 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:1159/attributed", source="ORDO:1159/ntbt", source="Orphanet:1159", source="DOID:0090004"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535387 {source="ORDO:1159/e", source="MONDO:equivalentTo", source="Orphanet:1159", source="MONDO:ontobio"}
xref: OMIM:208230 {source="ORDO:1159/e", source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004"}
xref: Orphanet:1159 {source="MONDO:equivalentTo", source="DOID:0090004", source="OMIM:208230"}
xref: SCTID:254065005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.07"}
is_a: MONDO:0016761 {source="Orphanet:1159"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432215
property_value: exactMatch DOID:0090004
property_value: exactMatch http://identifiers.org/mesh/C535387
property_value: exactMatch http://identifiers.org/omim/208230
property_value: exactMatch http://identifiers.org/snomedct/254065005
property_value: exactMatch Orphanet:1159

[Term]
id: MONDO:0008828
name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome
def: "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." [Orphanet:2848]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2848"}
synonym: "arthropathy camptodactyly syndrome" RELATED [GARD:0000306]
synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "CACP" EXACT [DOID:0090127]
synonym: "CACP" RELATED [MONDO:Lexical, OMIM:208250]
synonym: "CACP syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "camptodactyly arthropathy coxa vara pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly arthropathy pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT [GARD:0000306, MONDO:Lexical, OMIM:208250]
synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome; CACP" RELATED [OMIM:208250]
synonym: "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [DOID:0090127]
synonym: "CAP syndrome" EXACT EXCLUDE [DOID:0090127]
synonym: "Cap syndrome" RELATED [OMIM:208250]
synonym: "congenital familial hypertrophic synovitis" EXACT [DOID:0090127]
synonym: "familial fibrosing serositis" EXACT [DOID:0090127]
synonym: "fibrosing serositis, familial" RELATED [GARD:0000306, OMIM:208250]
synonym: "hypertrophic synovitis, congenital familial" RELATED [OMIM:208250]
synonym: "Jacobs syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "PAC syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250]
synonym: "pericarditis arthropathy camptodactyly syndrome" RELATED [GARD:0000306]
synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250, Orphanet:2848]
xref: DOID:0090127 {source="MONDO:equivalentTo"}
xref: EFO:0009028 {source="MONDO:equivalentTo"}
xref: GARD:0000306 {source="MONDO:equivalentTo"}
xref: MESH:C537560 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208250 {source="MONDO:equivalentTo", source="ORDO:2848/e", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"}
xref: Orphanet:2848 {source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250"}
is_a: MONDO:0005554 {source="Orphanet:2848"} ! rheumatologic disorder
is_a: MONDO:0006025 {source="DOID:0090127", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:2848"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940", source="MONDO:0021198"} ! rare
property_value: exactMatch DOID:0090127
property_value: exactMatch http://identifiers.org/mesh/C537560
property_value: exactMatch http://identifiers.org/omim/208250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859690
property_value: exactMatch Orphanet:2848
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome xsd:anyURI {source="GARD:0000306"}

[Term]
id: MONDO:0008829
name: chylous ascites
def: "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." [Orphanet:1160]
subset: gard_rare {source="GARD:0001359"}
subset: ordo_disease {source="Orphanet:1160"}
synonym: "ascites, chylous" RELATED [OMIM:208300]
synonym: "congenital chylous ascites" RELATED [GARD:0001359]
xref: GARD:0001359 {source="MONDO:equivalentTo"}
xref: ICD10:I89.8 {source="ORDO:1160/ntbt", source="Orphanet:1160"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10003446 {source="ORDO:1160/e", source="Orphanet:1160"}
xref: MESH:D002915 {source="MONDO:equivalentTo", source="ORDO:1160/e", source="MONDO:ontobio", source="Orphanet:1160"}
xref: NCIT:C34482 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:208300 {source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"}
xref: Orphanet:1160 {source="OMIM:208300", source="MONDO:equivalentTo"}
xref: SCTID:52985009 {source="MONDO:kboom-pr-1.00/0.91/27.56", source="MONDO:equivalentTo"}
xref: UMLS:C0008732 {source="OMIM:208300", source="NCIT:C34482", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"}
is_a: MONDO:0018722 {source="Orphanet:1160"} ! primary lymphedema with associated anomalies
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10003446
property_value: exactMatch http://identifiers.org/mesh/D002915
property_value: exactMatch http://identifiers.org/omim/208300
property_value: exactMatch http://identifiers.org/snomedct/52985009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008732
property_value: exactMatch NCIT:C34482
property_value: exactMatch Orphanet:1160
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites xsd:anyURI {source="GARD:0001359"}

[Term]
id: MONDO:0008830
name: aspartylglucosaminuria
def: "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." [Orphanet:93]
subset: ordo_disease {source="Orphanet:93"}
synonym: "Aga deficiency" RELATED [OMIM:208400]
synonym: "AGU" RELATED [MONDO:Lexical, OMIM:208400]
synonym: "Aspartylglucosamidase (AGA) deficiency" RELATED [GARD:0005854]
synonym: "aspartylglucosaminidase deficiency" EXACT [DOID:0050461, Orphanet:93]
synonym: "aspartylglucosaminuria" EXACT [MONDO:Lexical, OMIM:208400]
synonym: "aspartylglucosaminuria; AGU" RELATED [OMIM:208400]
synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, OMIM:208400]
synonym: "Glycoasparaginase" RELATED [OMIM:208400]
synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400]
xref: DOID:0050461 {source="MONDO:equivalentTo"}
xref: GARD:0005854 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.1 {source="ORDO:93/attributed", source="ORDO:93/ntbt", source="Orphanet:93", source="DOID:0050461"}
xref: MedDRA:10068220 {source="ORDO:93/e", source="Orphanet:93"}
xref: MESH:D054880 {source="MONDO:equivalentTo", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"}
xref: NCIT:C61273 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0050461"}
xref: OMIM:208400 {source="MONDO:equivalentTo", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"}
xref: Orphanet:93 {source="OMIM:208400", source="MONDO:equivalentTo"}
xref: SCTID:54954004 {source="MONDO:kboom-pr-0.92/0.76/0.91", source="MONDO:equivalentTo", source="DOID:0050461"}
xref: UMLS:C0268225 {source="OMIM:208400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61273", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016397 {source="Orphanet:93"} ! lysosomal disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:93"} ! neurometabolic disease
is_a: MONDO:0019251 {source="Orphanet:93"} ! oligosaccharidosis
is_a: MONDO:0019706 {source="Orphanet:93"} ! lysosomal storage disease with skeletal involvement
property_value: exactMatch DOID:0050461
property_value: exactMatch http://identifiers.org/meddra/10068220
property_value: exactMatch http://identifiers.org/mesh/C538402
property_value: exactMatch http://identifiers.org/mesh/D054880
property_value: exactMatch http://identifiers.org/omim/208400
property_value: exactMatch http://identifiers.org/snomedct/54954004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931840
property_value: exactMatch NCIT:C61273
property_value: exactMatch Orphanet:93

[Term]
id: MONDO:0008831
name: asphyxiating thoracic dystrophy 1
def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." [DOID:0110085, PMID:20503315]
synonym: "asphyxiating thoracic dystrophy 1" EXACT [OMIM:208500]
synonym: "asphyxiating thoracic dystrophy type 1" EXACT [DOID:0110085, MONDORULE:1]
synonym: "ATD1" EXACT [DOID:0110085]
synonym: "Jeune syndrome" RELATED [OMIM:208500]
synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [DOID:0110085, MONDO:Lexical, OMIM:208500]
synonym: "short-rib thoracic dysplasia 1 with or without polydactyly; SRTD1" RELATED [OMIM:208500]
synonym: "SRTD1" EXACT [DOID:0110085, MONDO:Lexical, OMIM:208500]
synonym: "thoracic-pelvic-phalangeal dystrophy" RELATED [OMIM:208500]
xref: DOID:0110085 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110085"}
xref: OMIM:208500 {source="MONDO:equivalentTo", source="DOID:0110085"}
xref: UMLS:CN119532 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110085", source="OMIM:208500"} ! Jeune syndrome
property_value: exactMatch DOID:0110085
property_value: exactMatch http://identifiers.org/omim/208500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119532

[Term]
id: MONDO:0008832
name: right atrial isomerism (disease)
def: "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12." [DOID:0060856, PMID:14648004, PMID:20413652]
subset: ordo_malformation_syndrome {source="Orphanet:97548"}
synonym: "asplenia syndrome" RELATED [GARD:0006795]
synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856]
synonym: "bilateral right-sidedness sequence" RELATED [GARD:0006795]
synonym: "heterotaxy, Visceroatrial, autosomal recessive" RELATED [OMIM:208530]
synonym: "Ivemark syndrome" EXACT [DOID:0060856, OMIM:208530]
synonym: "Polyasplenia" RELATED [OMIM:208530]
synonym: "polysplenia syndrome" RELATED [OMIM:208530]
synonym: "RAI" RELATED [MONDO:Lexical, OMIM:208530]
synonym: "right atrial isomerism" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:208530]
synonym: "right atrial isomerism; RAI" RELATED [OMIM:208530]
synonym: "right isomerism" RELATED [OMIM:208530]
synonym: "splenic agenesis syndrome" RELATED [GARD:0006795]
synonym: "Vah, autosomal recessive" RELATED [OMIM:208530]
xref: DOID:0060856 {source="MONDO:equivalentTo"}
xref: GARD:0006795 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0011536 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q20.6 {source="ORDO:97548/attributed", source="ORDO:97548/ntbt", source="Orphanet:97548", source="DOID:0060856"}
xref: MedDRA:10068335 {source="ORDO:97548/e", source="Orphanet:97548"}
xref: OMIM:208530 {source="ORDO:97548/e", source="MONDO:equivalentTo", source="Orphanet:97548", source="DOID:0060856"}
xref: Orphanet:97548 {source="MONDO:equivalentTo", source="DOID:0060856", source="OMIM:208530"}
is_a: MONDO:0017131 {source="Orphanet:97548"} ! genetic cardiac anomaly
is_a: MONDO:0018677 {source="DOID:0060856", source="Orphanet:97548"} ! visceral heterotaxy
is_a: MONDO:0019721 {source="Orphanet:97548"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175707
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265357
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876171
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876172
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876173
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3178806
property_value: exactMatch DOID:0060856
property_value: exactMatch http://identifiers.org/meddra/10068335
property_value: exactMatch http://identifiers.org/omim/208530
property_value: exactMatch Orphanet:97548

[Term]
id: MONDO:0008833
name: renal-hepatic-pancreatic dysplasia 1
def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NPHP3 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal-hepatic-pancreatic dysplasia 1" EXACT [MONDO:Lexical, OMIM:208540]
synonym: "renal-hepatic-pancreatic dysplasia 1; RHPD1" RELATED [OMIM:208540]
synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" EXACT [MONDO:design_pattern]
synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1, OMIM:208540]
synonym: "Rhpd" RELATED [OMIM:208540]
synonym: "RHPD1" RELATED [MONDO:Lexical, OMIM:208540]
xref: OMIM:208540 {source="MONDO:equivalentTo"}
xref: UMLS:C3715199 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017417 {source="DC-OMIM:208540", source="MONDO:Redundant", source="OMIM:208540"} ! renal-hepatic-pancreatic dysplasia
property_value: exactMatch http://identifiers.org/omim/208540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715199

[Term]
id: MONDO:0008834
name: asthma, nasal polyps, and aspirin intolerance
synonym: "Asa triad" RELATED [OMIM:208550]
synonym: "asthma and nasal polyps" RELATED [OMIM:208550]
synonym: "asthma, aspirin-induced, susceptibility to" RELATED [OMIM:208550]
synonym: "asthma, nasal polyps, and aspirin intolerance" EXACT [OMIM:208550]
xref: OMIM:208550 {source="MONDO:equivalentTo"}
xref: UMLS:C1859648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858067
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876174
property_value: exactMatch http://identifiers.org/omim/208550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859648

[Term]
id: MONDO:0008835
name: asthma, short stature, and elevated IgA
synonym: "asthma, short stature, and elevated IgA" EXACT [OMIM:208600]
xref: MESH:C565934 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208600 {source="MONDO:equivalentTo"}
xref: UMLS:C1859647 {source="OMIM:208600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565934
property_value: exactMatch http://identifiers.org/omim/208600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859647

[Term]
id: MONDO:0008836
name: ataxia with myoclonic epilepsy and presenile dementia
synonym: "ataxia with myoclonic epilepsy and presenile dementia" EXACT [OMIM:208700]
xref: MESH:C565933 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208700 {source="MONDO:equivalentTo"}
xref: UMLS:C1859646 {source="NCBI:mim2gene_medline", source="OMIM:208700", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565933
property_value: exactMatch http://identifiers.org/omim/208700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859646

[Term]
id: MONDO:0008837
name: ataxia, deafness, and cardiomyopathy
synonym: "ataxia, deafness, and cardiomyopathy" EXACT [OMIM:208750]
xref: MESH:C565932 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208750 {source="MONDO:equivalentTo"}
xref: UMLS:C1859645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208750"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565932
property_value: exactMatch http://identifiers.org/omim/208750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859645

[Term]
id: MONDO:0008838
name: ataxia - deafness - intellectual disability syndrome
def: "This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit." [Orphanet:1188]
subset: ordo_malformation_syndrome {source="Orphanet:1188"}
synonym: "Adr syndrome" RELATED [OMIM:208850]
synonym: "ataxia, hearing loss, and mental retardation" RELATED [GARD:0004644]
synonym: "ataxia-deafness-retardation syndrome" RELATED [OMIM:208850]
synonym: "ataxia-hearing loss-intellectual disability syndrome" EXACT [Orphanet:1188]
synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004644]
synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644]
synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188]
xref: GARD:0004644 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:1188", source="ORDO:1188/attributed", source="ORDO:1188/ntbt"}
xref: MESH:C535295 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208850 {source="ORDO:1188/e", source="Orphanet:1188", source="MONDO:equivalentTo"}
xref: Orphanet:1188 {source="OMIM:208850", source="MONDO:equivalentTo"}
xref: SCTID:720517001 {source="MONDO:kboom-pr-0.68/0.31/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0016612 {source="Orphanet:1188"} ! X-linked cerebellar ataxia
is_a: MONDO:0019589 {source="Orphanet:1188"} ! syndromic genetic deafness
is_a: MONDO:0020768 ! X-linked deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796045
property_value: exactMatch http://identifiers.org/mesh/C535295
property_value: exactMatch http://identifiers.org/omim/208850
property_value: exactMatch http://identifiers.org/snomedct/720517001
property_value: exactMatch Orphanet:1188

[Term]
id: MONDO:0008839
name: ataxia-microcephaly-cataract syndrome
synonym: "AMC syndrome" RELATED [OMIM:208870]
synonym: "ataxia-microcephaly-cataract syndrome" EXACT [OMIM:208870]
xref: MESH:C563086 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208870 {source="MONDO:equivalentTo"}
xref: UMLS:C0796056 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208870"}
is_a: MONDO:0003847 {source="MESH:C563086/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563086
property_value: exactMatch http://identifiers.org/omim/208870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796056

[Term]
id: MONDO:0008840
name: ataxia telangiectasia
def: "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." [Orphanet:100]
subset: gard_rare {source="GARD:0005862"}
subset: ordo_disease {source="Orphanet:100"}
synonym: "AT" RELATED [MONDO:Lexical, OMIM:208900]
synonym: "AT, complementation group A" RELATED [OMIM:208900]
synonym: "AT, complementation group C" RELATED [OMIM:208900]
synonym: "AT, complementation group D" RELATED [OMIM:208900]
synonym: "AT, complementation group E" RELATED [OMIM:208900]
synonym: "AT1" RELATED [OMIM:208900]
synonym: "ataxia - telangiectasia" EXACT [MONDO:Lexical, NCIT:C2887, OMIM:208900]
synonym: "ataxia - telangiectasia variant" RELATED [OMIM:208900]
synonym: "ataxia telangiectasia" EXACT [NCIT:C2887]
synonym: "ataxia telangiectasia syndrome" EXACT [NCIT:C2887]
synonym: "ataxia-telangiectasia; AT" RELATED [OMIM:208900]
synonym: "boder-Sedgwick syndrome" EXACT [DOID:12704]
synonym: "cerebello-oculocutaneous telangiectasia" RELATED [GARD:0005862]
synonym: "immunodeficiency with ataxia telangiectasia" RELATED [GARD:0005862]
synonym: "Louis Bar syndrome" EXACT [CSP2005:0485-2495, DOID:12704]
synonym: "Louis-Bar syndrome" EXACT [NCIT:C2887, OMIM:208900, Orphanet:100]
xref: DOID:12704 {source="MONDO:equivalentTo"}
xref: GARD:0005862 {source="MONDO:equivalentTo"}
xref: ICD10:G11.3 {source="ORDO:100/inclusion", source="ORDO:100/ntbt", source="Orphanet:100"}
xref: ICD9:334.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10003594 {source="ORDO:100/e", source="Orphanet:100"}
xref: MESH:D001260 {source="DOID:12704", source="MONDO:equivalentTo", source="ORDO:100/e", source="Orphanet:100"}
xref: NCIT:C2887 {source="DOID:12704", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:208900 {source="DOID:12704", source="MONDO:equivalentTo", source="ORDO:100/e", source="Orphanet:100"}
xref: Orphanet:100 {source="MONDO:equivalentTo", source="OMIM:208900"}
xref: SCTID:68504005 {source="DOID:12704", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.85"}
xref: UMLS:C0004135 {source="DOID:12704", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208900", source="ORDO:100/e", source="NCIT:C2887", source="Orphanet:100"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015131 {source="NCIT:C2887"} ! congenital combined immunodeficiency
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:100"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015707 {source="Orphanet:100"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
is_a: MONDO:0015945 {source="Orphanet:100"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016756 {source="Orphanet:100"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019293 {source="Orphanet:100", source="linkedlifedata/inferred"} ! skin vascular disease
is_a: MONDO:0019852 {source="Orphanet:100"} ! inherited primary ovarian failure
is_a: MONDO:0020045 {source="Orphanet:100"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
is_a: MONDO:0020201 {source="Orphanet:100"} ! conjunctival telangiectasia (disease)
is_a: MONDO:0020258 {source="Orphanet:100"} ! oculomotor apraxia or related oculomotor disease
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0042983 {source="MESH:D001260", source="NCIT:C2887", source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0919524
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859616
property_value: exactMatch DOID:12704
property_value: exactMatch http://identifiers.org/meddra/10003594
property_value: exactMatch http://identifiers.org/mesh/D001260
property_value: exactMatch http://identifiers.org/omim/208900
property_value: exactMatch http://identifiers.org/snomedct/68504005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004135
property_value: exactMatch NCIT:C2887
property_value: exactMatch Orphanet:100
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia xsd:anyURI {source="GARD:0005862"}

[Term]
id: MONDO:0008841
name: ataxia-telangiectasia with generalized skin pigmentation and early death
synonym: "ataxia-telangiectasia with generalized skin pigmentation and early death" EXACT [OMIM:208910]
xref: MESH:C565930 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208910 {source="MONDO:equivalentTo"}
xref: UMLS:C1859615 {source="OMIM:208910", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008840 {source="MESH:C565930", source="ORDO:100/btnt"} ! ataxia telangiectasia
property_value: exactMatch http://identifiers.org/mesh/C565930
property_value: exactMatch http://identifiers.org/omim/208910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859615

[Term]
id: MONDO:0008842
name: ataxia with oculomotor apraxia type 1
def: "Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." [Orphanet:1168]
comment: Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,
subset: ordo_disease {source="Orphanet:1168"}
synonym: "AOA1" EXACT [Orphanet:1168]
synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [OMIM:208920]
synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" RELATED [MONDO:Lexical, OMIM:208920]
synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH" RELATED [OMIM:208920]
synonym: "ataxia-oculomotor apraxia 1" RELATED [OMIM:208920]
synonym: "ataxia-oculomotor apraxia syndrome" RELATED [OMIM:208920]
synonym: "ataxia-oculomotor apraxia type 1" RELATED [Orphanet:1168]
synonym: "ataxia-telangiectasia-like syndrome" RELATED [OMIM:208920]
synonym: "cerebellar ataxia, early-onset, with hypoalbuminemia" RELATED [OMIM:208920]
synonym: "EAOH" RELATED [MONDO:Lexical, OMIM:208920]
synonym: "early-onset ataxia with oculomotor apraxia and hypoalbuminemia" RELATED [GARD:0009283]
synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009283]
synonym: "EOCA-HA" RELATED [GARD:0009283]
synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern]
xref: DOID:0050754 {source="MONDO:equivalentTo"}
xref: GARD:0009283 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.3 {source="Orphanet:1168", source="ORDO:1168/attributed", source="ORDO:1168/ntbt"}
xref: MESH:C538013 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:208920 {source="ORDO:1168/e", source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754"}
xref: Orphanet:1168 {source="OMIM:208920", source="MONDO:equivalentTo"}
xref: UMLS:C1859598 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:208920", source="Orphanet:1168", source="MONDO:equivalentTo"}
is_a: MONDO:0011457 ! ataxia - telangiectasia-like disorder
is_a: MONDO:0020258 {source="MONDO:Redundant", source="Orphanet:1168"} ! oculomotor apraxia or related oculomotor disease
relationship: disease_has_feature MONDO:0018151 {source="Orphanet:1168-modified", source="PMID:17094036"} ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0050754
property_value: exactMatch http://identifiers.org/mesh/C538013
property_value: exactMatch http://identifiers.org/omim/208920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859598
property_value: exactMatch Orphanet:1168

[Term]
id: MONDO:0008843
name: atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
def: "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed." [Orphanet:1192]
subset: ordo_malformation_syndrome {source="Orphanet:1192"}
synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [OMIM:209010]
synonym: "Feigenbaum Bergeron Richardson syndrome" RELATED [GARD:0002279]
synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192]
synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279]
xref: GARD:0002279 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C565928 {source="MONDO:equivalentTo"}
xref: OMIM:209010 {source="MONDO:equivalentTo", source="Orphanet:1192", source="ORDO:1192/e"}
xref: Orphanet:1192 {source="MONDO:equivalentTo", source="OMIM:209010"}
xref: SCTID:720519003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0015650 {source="Orphanet:1192"} ! epilepsy syndrome
is_a: MONDO:0019589 {source="Orphanet:1192"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:1192"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859596
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931125
property_value: exactMatch http://identifiers.org/mesh/C565928
property_value: exactMatch http://identifiers.org/omim/209010
property_value: exactMatch http://identifiers.org/snomedct/720519003
property_value: exactMatch Orphanet:1192

[Term]
id: MONDO:0008844
name: Athrombia, essential
synonym: "Athrombia, essential" EXACT [OMIM:209050]
xref: MESH:C565927 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859595 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:209050"}
is_a: MONDO:0003847 {source="MESH:C565927/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565927
property_value: exactMatch http://identifiers.org/omim/209050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859595

[Term]
id: MONDO:0008845
name: atonic-astatic syndrome of Foerster
synonym: "atonic-astatic syndrome of Foerster" EXACT [OMIM:209100]
xref: MESH:C565926 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:209100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565926
property_value: exactMatch http://identifiers.org/omim/209100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859594

[Term]
id: MONDO:0008846
name: atransferrinemia
def: "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." [Orphanet:1195]
subset: gard_rare {source="GARD:0009595"}
subset: ordo_disease {source="Orphanet:1195"}
synonym: "atransferrinemia" EXACT [OMIM:209300]
synonym: "congenital atransferrinemia" EXACT [NCIT:C125693]
synonym: "congenital hypotransferrinemia" EXACT [Orphanet:1195]
synonym: "familial hypotransferrinemia" EXACT [DOID:0050649]
synonym: "hereditary atransferrinemia" EXACT [NCIT:C125693]
synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300]
synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300]
xref: DOID:0050649 {source="MONDO:equivalentTo"}
xref: GARD:0009595 {source="MONDO:equivalentTo"}
xref: ICD10:E88.0 {source="ORDO:1195/index", source="ORDO:1195/e", source="Orphanet:1195"}
xref: MESH:C538259 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1195/e", source="Orphanet:1195"}
xref: NCIT:C125693 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:209300 {source="MONDO:equivalentTo", source="DOID:0050649", source="ORDO:1195/e", source="Orphanet:1195"}
xref: Orphanet:1195 {source="MONDO:equivalentTo", source="OMIM:209300"}
xref: SCTID:111571009 {source="MONDO:equivalentTo"}
xref: UMLS:C0521802 {source="NCIT:C125693", source="MONDO:equivalentTo", source="ORDO:1195/e", source="OMIM:209300", source="Orphanet:1195"}
is_a: MONDO:0004689 {source="DOID:0050649", source="MESH:C538259"} ! inborn metal metabolism disorder
is_a: MONDO:0017763 {source="Orphanet:1195"} ! disorder of iron metabolism and transport
is_a: MONDO:0020098 {source="Orphanet:1195"} ! constitutional anemia due to iron metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277918
property_value: exactMatch DOID:0050649
property_value: exactMatch http://identifiers.org/mesh/C538259
property_value: exactMatch http://identifiers.org/omim/209300
property_value: exactMatch http://identifiers.org/snomedct/111571009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859593
property_value: exactMatch NCIT:C125693
property_value: exactMatch Orphanet:1195
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia xsd:anyURI {source="GARD:0009595"}

[Term]
id: MONDO:0008847
name: atrichia with papular lesions
def: "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." [Orphanet:86819]
subset: ordo_disease {source="Orphanet:86819"}
synonym: "APL" RELATED [DOID:0060689, MONDO:Lexical, OMIM:209500]
synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500]
synonym: "atrichia with papular lesions; APL" RELATED [OMIM:209500]
synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819]
xref: DOID:0060689 {source="MONDO:equivalentTo"}
xref: ICD10:L65.8 {source="ORDO:86819/attributed", source="ORDO:86819/ntbt", source="DOID:0060689", source="Orphanet:86819"}
xref: MESH:C565924 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209500 {source="MONDO:equivalentTo", source="DOID:0060689", source="ORDO:86819/e", source="Orphanet:86819"}
xref: Orphanet:86819 {source="OMIM:209500", source="MONDO:equivalentTo", source="DOID:0060689"}
xref: SCTID:715963002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1859592 {source="OMIM:209500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86819"}
is_a: MONDO:0007806 ! hypotrichosis 4
property_value: exactMatch DOID:0060689
property_value: exactMatch http://identifiers.org/mesh/C565924
property_value: exactMatch http://identifiers.org/omim/209500
property_value: exactMatch http://identifiers.org/snomedct/715963002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859592
property_value: exactMatch Orphanet:86819

[Term]
id: MONDO:0008848
name: atrioventricular dissociation (disease)
def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327]
synonym: "A-V dissociation" RELATED [OMIM:209600]
synonym: "atrioventricular dissociation" EXACT [MONDO:ambiguous]
synonym: "atrioventricular dissociation" RELATED [OMIM:209600]
xref: HP:0011709 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:426.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209600 {source="MONDO:equivalentTo"}
xref: SCTID:50799005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004331
property_value: exactMatch http://identifiers.org/mesh/D006327
property_value: exactMatch http://identifiers.org/omim/209600
property_value: exactMatch http://identifiers.org/snomedct/50799005

[Term]
id: MONDO:0008849
name: atrophoderma vermiculata
subset: gard_rare {source="GARD:0009744"}
subset: ordo_disease {source="Orphanet:79100"}
synonym: "atrophoderma vermiculata" EXACT [MONDO:Lexical, OMIM:209700]
synonym: "atrophoderma vermiculata; ava" RELATED [OMIM:209700]
synonym: "atrophoderma vermiculatum" RELATED [GARD:0009744]
synonym: "Atrophodermia reticulata" RELATED [GARD:0009744]
synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [OMIM:209700]
synonym: "Atrophodermia vermiculata" RELATED [OMIM:209700]
synonym: "ava" RELATED [MONDO:Lexical, OMIM:209700]
synonym: "folliculitis ulerythematosa" RELATED [GARD:0009744]
synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700]
synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100]
synonym: "honeycomb atrophy" RELATED [OMIM:209700]
xref: GARD:0009744 {source="MONDO:equivalentTo"}
xref: ICD10:L66.4 {source="ORDO:79100/ntbt", source="ORDO:79100/index", source="Orphanet:79100"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:209700 {source="MONDO:equivalentTo", source="ORDO:79100/e", source="Orphanet:79100"}
xref: Orphanet:79100 {source="OMIM:209700", source="MONDO:equivalentTo"}
xref: SCTID:2736005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
is_a: MONDO:0018855 {source="MONDOLEX:0008849", source="Orphanet:79100", source="linkedlifedata"} ! keratosis pilaris atrophicans
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263429
property_value: exactMatch http://identifiers.org/omim/209700
property_value: exactMatch http://identifiers.org/snomedct/2736005
property_value: exactMatch Orphanet:79100
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata xsd:anyURI {source="GARD:0009744"}

[Term]
id: MONDO:0008850
name: Cooper-Jabs syndrome
def: "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." [Orphanet:1488]
subset: ordo_malformation_syndrome {source="Orphanet:1488"}
synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED [OMIM:209770]
synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488]
xref: ICD10:Q87.8 {source="Orphanet:1488", source="ORDO:1488/attributed", source="ORDO:1488/ntbt"}
xref: MESH:C565923 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209770 {source="Orphanet:1488", source="ORDO:1488/e", source="MONDO:equivalentTo"}
xref: Orphanet:1488 {source="MONDO:equivalentTo", source="OMIM:209770"}
xref: SCTID:720748007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0043008 {source="Orphanet:1488"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859591
property_value: exactMatch http://identifiers.org/mesh/C565923
property_value: exactMatch http://identifiers.org/omim/209770
property_value: exactMatch http://identifiers.org/snomedct/720748007
property_value: exactMatch Orphanet:1488

[Term]
id: MONDO:0008851
name: obsolete autism
is_obsolete: true
replaced_by: MONDO:0005260

[Term]
id: MONDO:0008852
name: congenital central hypoventilation syndrome
def: "gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." [Orphanet:661]
subset: clingen
subset: gard_rare {source="GARD:0008535"}
subset: ordo_disease {source="Orphanet:661"}
synonym: "autonomic control, congenital failure of" RELATED [OMIM:209880]
synonym: "CCHS" EXACT [DOID:0060731, MONDO:Lexical, OMIM:209880, Orphanet:661]
synonym: "Cchs with Hirschsprung disease" RELATED [OMIM:209880]
synonym: "central congenital hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661]
synonym: "central hypoventilation syndrome, congenital" RELATED [MONDO:Lexical, OMIM:209880]
synonym: "central hypoventilation syndrome, congenital; CCHS" RELATED [OMIM:209880]
synonym: "congenital central alveolar hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661]
synonym: "congenital central hypoventilation" EXACT [NCIT:C98889]
synonym: "congenital failure of autonomic control" RELATED [GARD:0008535]
synonym: "congenital ondine curse" RELATED [GARD:0008535]
synonym: "Haddad syndrome" RELATED [OMIM:209880]
synonym: "idiopathic congenital central alveolar hypoventilation" RELATED [GARD:0008535]
synonym: "ondine curse" EXACT [DOID:0060731, Orphanet:661]
synonym: "ondine curse (formerly)" RELATED [GARD:0008535]
synonym: "ondine curse, congenital" RELATED [OMIM:209880]
synonym: "ondine syndrome" EXACT [DOID:0060731]
synonym: "ondine's curse (formerly)" RELATED [GARD:0008535]
synonym: "ondine-Hirschsprung disease" RELATED [OMIM:209880]
synonym: "primary alveolar hypoventilation" RELATED [GARD:0008535]
xref: DOID:0060731 {source="MONDO:equivalentTo"}
xref: GARD:0008535 {source="MONDO:equivalentTo"}
xref: ICD10:G47.3 {source="ORDO:661/inclusion", source="ORDO:661/ntbt", source="MONDO:relatedTo", source="DOID:0060731", source="Orphanet:661"}
xref: MedDRA:10007982 {source="ORDO:661/e", source="Orphanet:661"}
xref: MedDRA:10066131 {source="ORDO:661/e", source="Orphanet:661"}
xref: NCIT:C98889 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:209880 {source="MONDO:equivalentTo", source="DOID:0060731", source="ORDO:661/e", source="Orphanet:661"}
xref: Orphanet:661 {source="MONDO:equivalentTo", source="DOID:0060731", source="OMIM:209880"}
xref: SCTID:230499002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.43/0.20"}
xref: UMLS:C1275808 {source="NCIT:C98889", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:661/e", source="Orphanet:661", source="OMIM:209880"}
is_a: MONDO:0001292 {source="Orphanet:661"} ! autonomic nervous system disease
is_a: MONDO:0002254 {source="MONDOLEX:0008852", source="NCIT:C98889"} ! syndromic disease
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
relationship: has_modifier MONDO:0021136 {source="MONDO:0018557"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859049
property_value: exactMatch DOID:0060731
property_value: exactMatch http://identifiers.org/meddra/10007982
property_value: exactMatch http://identifiers.org/meddra/10066131
property_value: exactMatch http://identifiers.org/omim/209880
property_value: exactMatch http://identifiers.org/snomedct/230499002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275808
property_value: exactMatch NCIT:C98889
property_value: exactMatch Orphanet:661
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome xsd:anyURI {source="GARD:0008535"}

[Term]
id: MONDO:0008853
name: Barber-Say syndrome
def: "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." [Orphanet:1231]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1231"}
synonym: "Barber Say syndrome" RELATED [GARD:0000819]
synonym: "Barber-Say syndrome" EXACT [MONDO:Lexical, OMIM:209885]
synonym: "BARBER-SAY syndrome; BBRSAY" RELATED [OMIM:209885]
synonym: "BBRSAY" RELATED [MONDO:Lexical, OMIM:209885]
synonym: "Bss" RELATED [OMIM:209885]
synonym: "hypertrichosis atrophic skin ectropion macrostomia" RELATED [GARD:0000819]
synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819, OMIM:209885]
synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231]
xref: DOID:0060549 {source="MONDO:equivalentTo"}
xref: GARD:0000819 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1231", source="ORDO:1231/attributed", source="ORDO:1231/ntbt"}
xref: MESH:C537908 {source="Orphanet:1231", source="ORDO:1231/e", source="MONDO:equivalentTo", source="DOID:0060549", source="MONDO:ontobio"}
xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="ORDO:1231/e", source="MONDO:equivalentTo", source="DOID:0060549"}
xref: Orphanet:1231 {source="GARD:0000819", source="OMIM:209885", source="MONDO:equivalentTo", source="DOID:0060549"}
xref: SCTID:408537003 {source="MONDO:equivalentTo", source="DOID:0060549", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1319466 {source="GARD:0000819", source="OMIM:209885", source="Orphanet:1231", source="ORDO:1231/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060549"}
is_a: MONDO:0001334 ! hypertrichosis of eyelid
is_a: MONDO:0015218 {source="Orphanet:1231"} ! syndromic developmental defect of the eye
is_a: MONDO:0019287 {source="Orphanet:1231"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020154 {source="Orphanet:1231"} ! microblepharon-ablephara syndrome
is_a: MONDO:0020159 {source="Orphanet:1231"} ! congenital entropion
is_a: MONDO:0020162 {source="Orphanet:1231"} ! secondary ectropion
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1231"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060549
property_value: exactMatch http://identifiers.org/mesh/C537908
property_value: exactMatch http://identifiers.org/omim/209885
property_value: exactMatch http://identifiers.org/snomedct/408537003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1319466
property_value: exactMatch Orphanet:1231
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome xsd:anyURI {source="GARD:0000819"}

[Term]
id: MONDO:0008854
name: Bardet-Biedl syndrome 1
def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." [DOID:0110123, PMID:20177705]
subset: gard_rare
synonym: "Bardet-Biedl syndrome 1" EXACT [MONDO:Lexical, OMIM:209900]
synonym: "Bardet-Biedl syndrome 1; BBS1" RELATED [OMIM:209900]
synonym: "Bardet-Biedl syndrome type 1" EXACT [DOID:0110123, MONDORULE:1, OMIM:209900]
synonym: "BBS1" EXACT [DOID:0110123, GARD:0000820, MONDO:Lexical, OMIM:209900]
xref: DOID:0110123 {source="MONDO:equivalentTo"}
xref: EFO:0009021 {source="MONDO:equivalentTo"}
xref: GARD:0000820 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110123"}
xref: MESH:C537909 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:209900 {source="GARD:0000820", source="MONDO:equivalentTo", source="DOID:0110123"}
xref: UMLS:C2936862 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000820", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:209900", source="DOID:0110123", source="EFO:0009021", source="MESH:C537909", source="MONDO:Redundant", source="OMIM:209900", source="indirect"} ! Bardet-Biedl syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412746
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412747
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412749
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412750
property_value: exactMatch DOID:0110123
property_value: exactMatch http://identifiers.org/mesh/C537909
property_value: exactMatch http://identifiers.org/omim/209900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936862

[Term]
id: MONDO:0008855
name: MHC class II deficiency
def: "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." [Orphanet:572]
subset: gard_rare
subset: ordo_disease {source="Orphanet:572"}
synonym: "BARE lymphocyte syndrome" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome 2" RELATED [GARD:0000824]
synonym: "Bare lymphocyte syndrome type 2" EXACT [GARD:0000824, MESH:C537079, Orphanet:572]
synonym: "bare lymphocyte syndrome type II" EXACT [CSP2005:1560-6660, DOID:5812]
synonym: "Bare lymphocyte syndrome, type 2" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome, type II" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group A" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome, type II, complementation group B" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group B, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group C" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group C, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group D" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group D, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group E" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group E, included" RELATED [MESH:C537079]
synonym: "BLS" RELATED [MESH:C537079]
synonym: "BLS 2" RELATED [GARD:0000824]
synonym: "BLS type II" RELATED [MESH:C537079]
synonym: "Bls, type 2" RELATED [OMIM:209920]
synonym: "BLS, type II" RELATED [MESH:C537079]
synonym: "BLSII" EXACT [DOID:5812]
synonym: "HLA class 2-negative SCID" EXACT [Orphanet:572]
synonym: "HLA class 2-negative severe combined immunodeficiency" EXACT [Orphanet:572]
synonym: "immunodeficiency by defective expression of HLA class 2" RELATED [Orphanet:572]
synonym: "immunodeficiency by defective expression of HLA class type 2" EXACT [MONDORULE:1, Orphanet:572]
synonym: "major histocompatibility complex class II expression deficiency" EXACT [Orphanet:572]
synonym: "MHC class II expression deficiency" EXACT [Orphanet:572]
synonym: "SCID due to absent class II HLA antigens" EXACT [DOID:5812]
synonym: "SCID, HLA Class 2-negative" RELATED [GARD:0000824, MESH:C537079]
synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079, OMIM:209920]
synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" RELATED [MESH:C537079]
synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920]
synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079]
xref: DOID:5812 {source="MONDO:equivalentTo"}
xref: GARD:0000824 {source="MONDO:equivalentTo"}
xref: ICD10:D81.6 {source="DOID:5812"}
xref: ICD10:D81.7 {source="ORDO:572/e", source="ORDO:572/specific", source="Orphanet:572"}
xref: MESH:C537079 {source="MONDO:equivalentTo"}
xref: NCIT:C3895 {source="DOID:5812", source="MONDO:equivalentTo"}
xref: OMIM:209920 {source="DOID:5812", source="MONDO:equivalentTo", source="ORDO:572/e", source="GARD:0000824", source="Orphanet:572"}
xref: Orphanet:572 {source="OMIM:209920", source="MONDO:equivalentTo", source="GARD:0000824"}
xref: SCTID:71904008 {source="MONDO:kboom-pr-1.00/0.76/8.53", source="DOID:5812", source="MONDO:equivalentTo"}
xref: UMLS:CN239286 {source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:572"} ! non-severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:5812", source="https://github.com/monarch-initiative/mondo-build/issues/108"} ! severe combined immunodeficiency (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242583
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859534
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859535
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859536
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859538
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931418
property_value: exactMatch DOID:5812
property_value: exactMatch http://identifiers.org/mesh/C537079
property_value: exactMatch http://identifiers.org/omim/209920
property_value: exactMatch http://identifiers.org/snomedct/71904008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239286
property_value: exactMatch NCIT:C3895
property_value: exactMatch Orphanet:572
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 xsd:anyURI {source="GARD:0000824"}

[Term]
id: MONDO:0008856
name: immunodeficiency 27A
synonym: "atypical mycobacterial infection, disseminated" RELATED [GARD:0009185]
synonym: "atypical mycobacterial infection, familial disseminated" RELATED [GARD:0009185]
synonym: "atypical mycobacteriosis, familial" RELATED [GARD:0009185]
synonym: "IFNGR1 deficiency, autosomal recessive" RELATED [OMIM:209950]
synonym: "IMD27A" RELATED [MONDO:Lexical, OMIM:209950]
synonym: "immunodeficiency 27A" EXACT [MONDO:Lexical, OMIM:209950]
synonym: "immunodeficiency 27A, Mycobacteriosis, autosomal recessive" RELATED [OMIM:209950]
synonym: "immunodeficiency 27A; IMD27A" RELATED [OMIM:209950]
synonym: "immunodeficiency type 27A" EXACT [MONDORULE:4, OMIM:209950]
synonym: "mycobacterial disease, Mendelian susceptibility to" RELATED [GARD:0009185]
xref: GARD:0009185 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:209950 {source="MONDO:equivalentTo"}
xref: UMLS:C4011949 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0694566
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859527
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859528
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859529
property_value: exactMatch http://identifiers.org/omim/209950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011949

[Term]
id: MONDO:0008857
name: Beemer-Ertbruggen syndrome
def: "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." [Orphanet:1237]
subset: gard_rare {source="GARD:0000846"}
subset: ordo_malformation_syndrome {source="Orphanet:1237"}
synonym: "Beemer Ertbruggen syndrome" RELATED [GARD:0000846]
synonym: "Beemer lethal malformation syndrome" RELATED [OMIM:209970]
synonym: "hydrocephalus, cardiac malformation, dense bones, etc" RELATED [GARD:0000846]
synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM:209970]
synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237]
synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846]
xref: GARD:0000846 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1237/attributed", source="ORDO:1237/ntbt", source="Orphanet:1237"}
xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e", source="MONDO:ontobio"}
xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e"}
xref: Orphanet:1237 {source="MONDO:equivalentTo", source="OMIM:209970"}
xref: SCTID:717859007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.38"}
xref: UMLS:C1859526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e", source="OMIM:209970"}
is_a: MONDO:0043008 {source="Orphanet:1237"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537668
property_value: exactMatch http://identifiers.org/omim/209970
property_value: exactMatch http://identifiers.org/snomedct/717859007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859526
property_value: exactMatch Orphanet:1237
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome xsd:anyURI {source="GARD:0000846"}

[Term]
id: MONDO:0008858
name: Behr syndrome
def: "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." [https://rarediseases.info.nih.gov/diseases/849/behr-syndrome]
comment: Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form
subset: gard_rare {source="GARD:0000849"}
subset: ordo_malformation_syndrome {source="Orphanet:1239"}
synonym: "Behr syndrome" EXACT [OMIM:210000]
synonym: "Behr syndrome; BEHRS" RELATED [OMIM:210000]
synonym: "BEHRS" RELATED [OMIM:210000]
synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" RELATED [GARD:0000849]
synonym: "optic atrophy, infantile hereditary, Behr complicated form of" RELATED [GARD:0000849]
synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [OMIM:210000]
xref: GARD:0000849 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="ORDO:1239/ntbt", source="MONDO:relatedTo", source="ORDO:1239/index", source="Orphanet:1239"}
xref: MESH:C537669 {source="MONDO:equivalentTo", source="Orphanet:1239", source="ORDO:1239/e", source="MONDO:ontobio"}
xref: OMIM:210000 {source="MONDO:equivalentTo", source="Orphanet:1239", source="ORDO:1239/e"}
xref: Orphanet:1239 {source="MONDO:equivalentObsolete", source="OMIM:210000"}
xref: SCTID:718221007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0221061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210000", source="Orphanet:1239", source="ORDO:1239/e"}
is_a: MONDO:0018609 {source="Orphanet:1239"} ! syndromic hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/mesh/C537669
property_value: exactMatch http://identifiers.org/omim/210000
property_value: exactMatch http://identifiers.org/snomedct/718221007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221061
property_value: exactMatch Orphanet:1239
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/849/behr-syndrome xsd:anyURI {source="GARD:0000849"}

[Term]
id: MONDO:0008859
name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
subset: gard_rare {source="GARD:0008552"}
synonym: "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" EXACT [OMIM:210050]
synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [OMIM:210050]
xref: GARD:0008552 {source="MONDO:equivalentTo"}
xref: MESH:C565905 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859519 {source="OMIM:210050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565905
property_value: exactMatch http://identifiers.org/omim/210050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859519
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification xsd:anyURI {source="GARD:0008552"}

[Term]
id: MONDO:0008860
name: beta-aminoisobutyric acid, urinary excretion of
synonym: "Baib urinary excretion" RELATED [OMIM:210100]
synonym: "BAIBA" RELATED [OMIM:210100]
synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100]
synonym: "Beta-aminoisobutyric aciduria" RELATED [OMIM:210100]
synonym: "BETA-aminoisobutyric aciduria; BAIBA" RELATED [OMIM:210100]
synonym: "hyper-Beta-aminoisobutyric aciduria" RELATED [OMIM:210100]
xref: MESH:C565904 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859518 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210100"}
is_a: MONDO:0003847 {source="MESH:C565904/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565904
property_value: exactMatch http://identifiers.org/omim/210100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859518

[Term]
id: MONDO:0008861
name: 3-methylcrotonyl-CoA carboxylase 1 deficiency
alt_id: MONDO:0022326
def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "3 Alpha methylcrotonylglycinuria 1" RELATED [GARD:0005665]
synonym: "3 alpha methylcrotonylglycinuria 1" RELATED [MESH:C535308]
synonym: "3 Methylcrotonyl-CoA carboxylase 1 deficiency" RELATED [GARD:0005665]
synonym: "3 Methylcrotonyl-CoA carboxylase deficiency" RELATED [GARD:0005665, MESH:C535308]
synonym: "3 methylcrotonylglycinuria" RELATED [GARD:0005665, MESH:C535308]
synonym: "3-MCC deficiency" RELATED [MESH:C535308]
synonym: "3-Methylcrotonyl-Coa carboxylase 1 deficiency" EXACT [MONDO:Lexical, OMIM:210200]
synonym: "3-methylcrotonyl-CoA carboxylase 1 deficiency" EXACT [MESH:C535308]
synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency; MCC1D" RELATED [OMIM:210200]
synonym: "3-Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308]
synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1" EXACT [MONDO:design_pattern]
synonym: "3-Methylcrotonyl-Coenzyme A carboxylase deficiency" RELATED [MESH:C535308]
synonym: "3-methylcrotonylglycinuria" RELATED [MESH:C535308]
synonym: "3-methylcrotonylglycinuria 1" RELATED [OMIM:210200]
synonym: "3-methylcrotonylglycinuria I" RELATED [MESH:C535308]
synonym: "Bmcc deficiency" RELATED [MESH:C535308]
synonym: "deficiency of methylcrotonoyl-Coa carboxylase" RELATED [MESH:C535308]
synonym: "MCC 1 deficiency" RELATED [GARD:0005665]
synonym: "MCC deficiency" RELATED [MESH:C535308]
synonym: "MCC1 deficiency" RELATED [MESH:C535308]
synonym: "Mcc1 deficiency" RELATED [OMIM:210200]
synonym: "MCC1D" RELATED [MESH:C535308, MONDO:Lexical, OMIM:210200]
synonym: "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCCD type 1" RELATED [MESH:C535308]
synonym: "Mccd type 1" RELATED [OMIM:210200]
synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" RELATED [MESH:C535308]
synonym: "Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308]
synonym: "methylcrotonylglycinuria type 1" RELATED [OMIM:210200]
synonym: "methylcrotonylglycinuria type I" RELATED [MESH:C535308]
xref: GARD:0005665 {source="MONDO:equivalentTo"}
xref: MESH:C535308 {source="MONDO:equivalentTo"}
xref: OMIM:210200 {source="GARD:0005665", source="MEDIC:C535308", source="MONDO:equivalentTo"}
xref: UMLS:CN028786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder
is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210200", source="ORDO:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency
property_value: exactMatch http://identifiers.org/mesh/C535308
property_value: exactMatch http://identifiers.org/omim/210200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN028786
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency xsd:anyURI {source="GARD:0005665"}

[Term]
id: MONDO:0008862
name: 3-methylcrotonyl-CoA carboxylase 2 deficiency
def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:0009151]
synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151]
synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [MONDO:Lexical, OMIM:210210]
synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency; MCC2D" RELATED [OMIM:210210]
synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" EXACT [MONDO:design_pattern]
synonym: "3-methylcrotonylglycinuria 2" RELATED [OMIM:210210]
synonym: "MCC 2 deficiency" RELATED [GARD:0009151]
synonym: "MCC2 deficiency" RELATED [OMIM:210210]
synonym: "MCC2D" RELATED [MONDO:Lexical, OMIM:210210]
synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151]
synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210]
xref: GARD:0009151 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535309 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210210 {source="MONDO:equivalentTo"}
is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="ORDO:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859499
property_value: exactMatch http://identifiers.org/mesh/C535309
property_value: exactMatch http://identifiers.org/omim/210210

[Term]
id: MONDO:0008863
name: sitosterolemia
def: "(2p21) genes." [Orphanet:2882]
subset: gard_rare {source="GARD:0007653"}
subset: ordo_disease {source="Orphanet:2882"}
synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [OMIM:210250]
synonym: "phytosterolemia" EXACT [DOID:0090019, OMIM:210250, Orphanet:2882]
synonym: "plant sterol storage disease" RELATED [GARD:0007653]
synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653]
synonym: "sitosterolemia" EXACT [OMIM:210250]
synonym: "STSL" RELATED [OMIM:210250]
xref: DOID:0090019 {source="MONDO:equivalentTo"}
xref: GARD:0007653 {source="MONDO:equivalentTo"}
xref: ICD10:E78.0 {source="Orphanet:2882", source="ORDO:2882/attributed", source="ORDO:2882/ntbt", source="DOID:0090019"}
xref: MedDRA:10063985 {source="ORDO:2882/e", source="Orphanet:2882"}
xref: MESH:C537345 {source="ORDO:2882/e", source="Orphanet:2882", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0090019"}
xref: NCIT:C125694 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:210250 {source="MONDO:equivalentTo"}
xref: OMIMPS:215250 {source="MONDO:equivalentTo"}
xref: Orphanet:101022 {source="OMIM:210250", source="MONDO:equivalentObsolete"}
xref: Orphanet:2882 {source="OMIM:210250", source="MONDO:equivalentTo", source="DOID:0090019"}
xref: SCTID:238104009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0342907 {source="ORDO:2882/e", source="OMIM:210250", source="Orphanet:2882", source="NCIT:C125694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0090019"}
is_a: MONDO:0015905 {source="Orphanet:2882"} ! syndromic dyslipidemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749759
property_value: exactMatch DOID:0090019
property_value: exactMatch http://identifiers.org/meddra/10063985
property_value: exactMatch http://identifiers.org/mesh/C537345
property_value: exactMatch http://identifiers.org/snomedct/238104009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342907
property_value: exactMatch NCIT:C125694
property_value: exactMatch Orphanet:101022
property_value: exactMatch Orphanet:2882
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia xsd:anyURI {source="GARD:0007653"}

[Term]
id: MONDO:0008864
name: Biemond syndrome type 2
def: "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." [Orphanet:141333]
comment: Editor note: see also type 1, e.g. GARD:0000881
subset: gard_rare
subset: ordo_disease {source="Orphanet:141333"}
synonym: "Biemond syndrome 2" RELATED [GARD:0000882]
synonym: "BIEMOND syndrome II" RELATED [OMIM:210350]
synonym: "Biemond syndrome type 2" EXACT [MONDORULE:1, OMIM:210350]
synonym: "BS2" RELATED [GARD:0000882]
synonym: "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" EXACT [Orphanet:141333]
synonym: "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" RELATED [GARD:0000882]
xref: GARD:0000882 {source="MONDO:equivalentTo"}
xref: MESH:C565902 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="ORDO:141333/e"}
xref: Orphanet:141333 {source="OMIM:210350", source="MONDO:equivalentTo"}
xref: SCTID:717887003 {source="MONDO:kboom-pr-1.00/0.91/27.69", source="MONDO:equivalentTo"}
xref: UMLS:C1859487 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:210350", source="MONDO:equivalentTo", source="Orphanet:141333"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:141333", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:141333"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:141333"} ! malformation syndrome with short stature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796190
property_value: exactMatch http://identifiers.org/mesh/C565902
property_value: exactMatch http://identifiers.org/omim/210350
property_value: exactMatch http://identifiers.org/snomedct/717887003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930903
property_value: exactMatch Orphanet:141333
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 xsd:anyURI {source="GARD:0000882"}

[Term]
id: MONDO:0008865
name: Bietti crystalline corneoretinal dystrophy
def: "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." [Orphanet:41751]
subset: gard_rare {source="GARD:0010050"}
subset: ordo_disease {source="Orphanet:41751"}
synonym: "BCD" EXACT [MONDO:Lexical, OMIM:210370, Orphanet:41751]
synonym: "Bietti crystalline corneoretinal dystrophy" EXACT [MONDO:Lexical, OMIM:210370, Orphanet:41751]
synonym: "Bietti crystalline corneoretinal dystrophy; BCD" RELATED [OMIM:210370]
synonym: "Bietti crystalline dystrophy" RELATED [OMIM:210370]
synonym: "Bietti crystalline retinopathy" EXACT [Orphanet:41751]
synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [OMIM:210370]
synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664]
xref: DOID:0050664 {source="MONDO:equivalentTo"}
xref: GARD:0010050 {source="MONDO:equivalentTo"}
xref: ICD10:H15.5 {source="Orphanet:41751", source="ORDO:41751/attributed", source="ORDO:41751/ntbt"}
xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:41751/e"}
xref: OMIM:210370 {source="Orphanet:41751", source="DOID:0050664", source="MONDO:equivalentTo", source="ORDO:41751/e"}
xref: Orphanet:41751 {source="OMIM:210370", source="MONDO:equivalentTo"}
xref: SCTID:312927001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.40"}
xref: UMLS:C1859486 {source="MEDGEN:kboom-pr97-c99", source="OMIM:210370", source="Orphanet:41751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016420 {source="Orphanet:41751"} ! familial flecked retinopathy
property_value: exactMatch DOID:0050664
property_value: exactMatch http://identifiers.org/mesh/C535440
property_value: exactMatch http://identifiers.org/omim/210370
property_value: exactMatch http://identifiers.org/snomedct/312927001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859486
property_value: exactMatch Orphanet:41751
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy xsd:anyURI {source="GARD:0010050"}

[Term]
id: MONDO:0008866
name: bifid nose, autosomal recessive
def: "Autosomal recessive form of bifid nose." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive bifid nose" EXACT [MONDO:design_pattern]
synonym: "bifid nose, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:210400]
synonym: "median fissure of Nose" RELATED [OMIM:210400]
synonym: "Nose, Median cleft of" RELATED [OMIM:210400]
xref: OMIM:210400 {source="MONDO:equivalentTo"}
is_a: MONDO:0000110 {source="DC-OMIM:210400", source="MONDO:Entailed", source="MONDO:Redundant"} ! bifid nose
is_a: MONDO:0006025 ! autosomal recessive disease
property_value: exactMatch http://identifiers.org/omim/210400

[Term]
id: MONDO:0008867
name: biliary atresia
def: "Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment." [Orphanet:30391]
subset: gard_rare {source="GARD:0012010"}
subset: ordo_morphological_anomaly {source="Orphanet:30391"}
synonym: "atresia of bile duct" EXACT [DOID:13608]
synonym: "atresia of bile ducts" EXACT [Orphanet:30391]
synonym: "biliary atresia, congenital" EXACT [DOID:13608, ICD9CM_2006:751.61]
synonym: "biliary atresia, extrahepatic" RELATED [MONDO:Lexical, OMIM:210500]
synonym: "biliary atresia, extrahepatic; EHBA" RELATED [OMIM:210500]
synonym: "congenital biliary atresia" EXACT [NCIT:C34421]
synonym: "EHBA" RELATED [MONDO:Lexical, OMIM:210500]
synonym: "isolated atresia of bile ducts" EXACT [Orphanet:30391]
synonym: "isolated biliary atresia" RELATED [Orphanet:30391]
synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391]
xref: COHD:196796 {source="MONDO:equivalentTo"}
xref: DOID:13608 {source="MONDO:equivalentTo"}
xref: GARD:0012010 {source="MONDO:equivalentTo"}
xref: ICD10:Q44.2 {source="DOID:13608", source="ORDO:30391/e", source="Orphanet:30391"}
xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10003650 {source="ORDO:30391/e", source="Orphanet:30391"}
xref: MESH:D001656 {source="DOID:13608", source="MONDO:equivalentTo", source="ORDO:30391/e", source="MONDO:ontobio", source="Orphanet:30391"}
xref: NCIT:C34421 {source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:210500 {source="MONDO:equivalentTo", source="ORDO:30391/e", source="Orphanet:30391"}
xref: Orphanet:30391 {source="DOID:13608", source="MONDO:equivalentTo", source="OMIM:210500"}
xref: SCTID:77480004 {source="DOID:13608", source="MONDO:equivalentTo"}
xref: UMLS:C0005411 {source="NCBI:mim2gene_medline", source="DOID:13608", source="MONDO:equivalentTo", source="ORDO:30391/e", source="NCIT:C34421", source="OMIM:210500", source="Orphanet:30391"}
is_a: MONDO:0001751 {source="DOID:13608"} ! cholestasis
is_a: MONDO:0006322 {source="NCIT:C34421"} ! non-neoplastic bile duct disorder
is_a: MONDO:0015213 {source="Orphanet:30391"} ! non-syndromic visceral malformation
property_value: closeMatch http://identifiers.org/snomedct/204779004
property_value: closeMatch http://identifiers.org/snomedct/204783004
property_value: closeMatch http://identifiers.org/snomedct/82821008
property_value: closeMatch NCIT:C97069
property_value: exactMatch DOID:13608
property_value: exactMatch http://identifiers.org/meddra/10003650
property_value: exactMatch http://identifiers.org/mesh/D001656
property_value: exactMatch http://identifiers.org/omim/210500
property_value: exactMatch http://identifiers.org/snomedct/77480004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005411
property_value: exactMatch NCIT:C34421
property_value: exactMatch Orphanet:30391
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia xsd:anyURI {source="GARD:0012010"}

[Term]
id: MONDO:0008868
name: biliary malformation with renal tubular insufficiency
synonym: "biliary malformation with renal tubular insufficiency" EXACT [OMIM:210550]
synonym: "cholestatic jaundice and renal tubular insufficiency" RELATED [OMIM:210550]
xref: MESH:C537726 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210550 {source="MONDO:equivalentTo"}
xref: SCTID:235914003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
xref: UMLS:C0400972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210550"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537726
property_value: exactMatch http://identifiers.org/omim/210550
property_value: exactMatch http://identifiers.org/snomedct/235914003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400972

[Term]
id: MONDO:0008869
name: Seckel syndrome 1
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Bird-headed dwarfism" RELATED [OMIM:210600]
synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600]
synonym: "microcephalic primordial dwarfism I" EXACT [DOID:0070007]
synonym: "nanocephalic dwarfism" RELATED [OMIM:210600]
synonym: "Sckl" RELATED [OMIM:210600]
synonym: "SCKL1" EXACT [DOID:0070007, MONDO:Lexical, OMIM:210600]
synonym: "Seckel syndrome 1" EXACT [MONDO:Lexical, OMIM:210600]
synonym: "Seckel syndrome 1; SCKL1" RELATED [OMIM:210600]
synonym: "Seckel syndrome 3" EXACT [OMIM:210600]
synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600]
synonym: "Seckel-type dwarfism" RELATED [OMIM:210600]
xref: DOID:0070007 {source="MONDO:equivalentTo"}
xref: OMIM:210600 {source="MONDO:equivalentTo", source="DOID:0070007"}
xref: UMLS:C1837590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN033164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:210600", source="DOID:0070007", source="MONDO:Redundant", source="MONDOLEX:0008869", source="OMIM:210600"} ! Seckel syndrome
property_value: exactMatch DOID:0070007
property_value: exactMatch http://identifiers.org/omim/210600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033164

[Term]
id: MONDO:0008870
name: bird headed-dwarfism, Montreal type
def: "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." [Orphanet:2617]
subset: ordo_malformation_syndrome {source="Orphanet:2617"}
synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GARD:0000895]
synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700]
synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700]
synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895]
xref: GARD:0000895 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:2617/attributed", source="ORDO:2617/ntbt", source="Orphanet:2617"}
xref: MESH:C535448 {source="MONDO:equivalentTo", source="ORDO:2617/e", source="MONDO:ontobio", source="Orphanet:2617"}
xref: OMIM:210700 {source="MONDO:equivalentTo", source="ORDO:2617/e", source="Orphanet:2617"}
xref: Orphanet:2617 {source="MONDO:equivalentTo", source="OMIM:210700"}
xref: UMLS:C1859468 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2617/e", source="OMIM:210700", source="Orphanet:2617"}
is_a: MONDO:0017950 {source="DC-OMIM:210700"} ! microcephalic primordial dwarfism
property_value: exactMatch http://identifiers.org/mesh/C535448
property_value: exactMatch http://identifiers.org/omim/210700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859468
property_value: exactMatch Orphanet:2617

[Term]
id: MONDO:0008871
name: microcephalic osteodysplastic primordial dwarfism type I
def: "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." [DOID:0060608, http://omim.org/entry/210710, PMID:22302400]
synonym: "Brachymelic primordial dwarfism" RELATED [OMIM:210710]
synonym: "brachymelic primordial dwarfism" EXACT [DOID:0060608]
synonym: "Cephaloskeletal dysplasia" RELATED [OMIM:210710]
synonym: "cephaloskeletal dysplasia" EXACT [DOID:0060608]
synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [DOID:0060608]
synonym: "low-birth-weight dwarfism with skeletal dysplasia" RELATED [OMIM:210710]
synonym: "microcephalic osteodysplastic primordial dwarfism, type 1" RELATED [OMIM:210710]
synonym: "microcephalic osteodysplastic primordial dwarfism, type I" RELATED [MONDO:Lexical, OMIM:210710]
synonym: "microcephalic osteodysplastic primordial dwarfism, type I; MOPD1" RELATED [OMIM:210710]
synonym: "MOPD 1" RELATED [OMIM:210710]
synonym: "MOPD1" RELATED [MONDO:Lexical, OMIM:210710]
synonym: "osteodysplastic primordial dwarfism type I" EXACT [DOID:0060608]
synonym: "osteodysplastic primordial dwarfism, type 1" RELATED [OMIM:210710]
synonym: "Taybi-Linder syndrome" RELATED [DOID:0060608, OMIM:210710]
xref: DOID:0060608 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:0060608"}
xref: OMIM:210710 {source="MONDO:equivalentTo", source="DOID:0060608"}
xref: SCTID:254102008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.50"}
is_a: MONDO:0000060 {source="DC-OMIM:210710", source="MONDO:Entailed", source="MONDO:Redundant"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0005516 {source="DOID:0060608", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0016994 {source="ORDO:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859452
property_value: exactMatch DOID:0060608
property_value: exactMatch http://identifiers.org/omim/210710
property_value: exactMatch http://identifiers.org/snomedct/254102008

[Term]
id: MONDO:0008872
name: microcephalic osteodysplastic primordial dwarfism type II
def: "'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'" [Orphanet:2637]
subset: gard_rare {source="GARD:0009844"}
subset: ordo_malformation_syndrome {source="Orphanet:2637"}
synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609, Orphanet:2637]
synonym: "microcephalic osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844]
synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" RELATED [GARD:0009844]
synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720]
synonym: "microcephalic osteodysplastic primordial dwarfism, type II" RELATED [MONDO:Lexical, OMIM:210720]
synonym: "microcephalic osteodysplastic primordial dwarfism, type II; MOPD2" RELATED [OMIM:210720]
synonym: "Mopd 2" RELATED [OMIM:210720]
synonym: "MOPD II" RELATED [GARD:0009844]
synonym: "MOPD type II" EXACT [Orphanet:2637]
synonym: "MOPD2" RELATED [MONDO:Lexical, OMIM:210720]
synonym: "osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844]
synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609]
synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720]
xref: DOID:0060609 {source="MONDO:equivalentTo"}
xref: GARD:0009844 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:0060609", source="ORDO:2637/attributed", source="ORDO:2637/ntbt", source="Orphanet:2637"}
xref: MESH:C565898 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210720 {source="DOID:0060609", source="MONDO:equivalentTo", source="ORDO:2637/e", source="Orphanet:2637"}
xref: Orphanet:2637 {source="DOID:0060609", source="MONDO:equivalentTo", source="OMIM:210720"}
xref: SCTID:254103003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.04"}
is_a: MONDO:0000060 {source="DC-OMIM:210720"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0005516 {source="DOID:0060609", source="MESH:C565898", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0016565 {source="Orphanet:2637"} ! syndromic genetic obesity
is_a: MONDO:0017950 {source="Orphanet:2637"} ! microcephalic primordial dwarfism
is_a: MONDO:0018792 {source="Orphanet:2637"} ! Moyamoya syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432246
property_value: exactMatch DOID:0060609
property_value: exactMatch http://identifiers.org/mesh/C565898
property_value: exactMatch http://identifiers.org/omim/210720
property_value: exactMatch http://identifiers.org/snomedct/254103003
property_value: exactMatch Orphanet:2637
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 xsd:anyURI {source="GARD:0009844"}

[Term]
id: MONDO:0008873
name: microcephalic osteodysplastic primordial dwarfism, type 3
synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" RELATED [OMIM:210730]
synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" RELATED [OMIM:210730]
synonym: "microcephalic osteodysplastic primordial dwarfism, type III" RELATED [OMIM:210730]
synonym: "Mopd 3" RELATED [OMIM:210730]
synonym: "Mopd, Caroline Crachami type" RELATED [OMIM:210730]
synonym: "Mopd, Sicilian fairy type" RELATED [OMIM:210730]
synonym: "osteodysplastic primordial dwarfism, type 3" RELATED [OMIM:210730]
xref: MESH:C537320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210730 {source="MONDO:equivalentTo"}
xref: UMLS:C1859439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210730"}
is_a: MONDO:0000060 {source="DC-OMIM:210730"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0016994 {source="ORDO:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III
property_value: exactMatch http://identifiers.org/mesh/C537320
property_value: exactMatch http://identifiers.org/omim/210730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859439

[Term]
id: MONDO:0008874
name: Bangstad syndrome
def: "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." [Orphanet:1227]
subset: gard_rare {source="GARD:0000812"}
subset: ordo_malformation_syndrome {source="Orphanet:1227"}
synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet:1227]
synonym: "Bangstad syndrome" EXACT [OMIM:210740]
synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812]
synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740]
xref: GARD:0000812 {source="MONDO:equivalentTo"}
xref: ICD10:E31.8 {source="ORDO:1227/attributed", source="ORDO:1227/ntbt", source="Orphanet:1227"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537902 {source="MONDO:equivalentTo", source="ORDO:1227/e", source="Orphanet:1227", source="MONDO:ontobio"}
xref: OMIM:210740 {source="MONDO:equivalentTo", source="ORDO:1227/e", source="Orphanet:1227"}
xref: Orphanet:1227 {source="MONDO:equivalentTo", source="OMIM:210740"}
xref: SCTID:237614004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
xref: UMLS:C0342284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1227/e", source="OMIM:210740", source="Orphanet:1227"}
is_a: MONDO:0015126 {source="Orphanet:1227"} ! polyendocrinopathy
property_value: exactMatch http://identifiers.org/mesh/C537902
property_value: exactMatch http://identifiers.org/omim/210740
property_value: exactMatch http://identifiers.org/snomedct/237614004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342284
property_value: exactMatch Orphanet:1227
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome xsd:anyURI {source="GARD:0000812"}

[Term]
id: MONDO:0008875
name: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
def: "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." [Orphanet:2057]
subset: ordo_malformation_syndrome {source="Orphanet:2057"}
synonym: "blepharophimosis - ptosis - esotropia - syndactyly - short stature" RELATED [GARD:0000905]
synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [OMIM:210745]
synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905]
synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057]
xref: GARD:0000905 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2057", source="ORDO:2057/attributed", source="ORDO:2057/ntbt"}
xref: MESH:C536235 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:210745 {source="ORDO:2057/e", source="Orphanet:2057", source="MONDO:equivalentTo"}
xref: Orphanet:2057 {source="MONDO:equivalentTo", source="OMIM:210745"}
xref: SCTID:717914000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0015218 {source="Orphanet:2057"} ! syndromic developmental defect of the eye
is_a: MONDO:0020169 {source="Orphanet:2057"} ! rare disorder with ptosis
is_a: MONDO:0043008 {source="Orphanet:2057"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536235
property_value: exactMatch http://identifiers.org/omim/210745
property_value: exactMatch http://identifiers.org/snomedct/717914000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859432
property_value: exactMatch Orphanet:2057

[Term]
id: MONDO:0008876
name: Bloom syndrome
def: "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." [Orphanet:125]
subset: gard_rare {source="GARD:0000915"}
subset: ordo_disease {source="Orphanet:125"}
synonym: "BLM" RELATED [MONDO:Lexical, OMIM:210900]
synonym: "Bloom syndrome" EXACT [MONDO:Lexical, OMIM:210900]
synonym: "Bloom syndrome; BLM" RELATED [OMIM:210900]
synonym: "Bloom-Torre-Machacek syndrome" EXACT [CSP2005:1254-7913, DOID:2717]
synonym: "BLS" RELATED [GARD:0000915]
synonym: "BS" RELATED [OMIM:210900]
synonym: "BSyn" EXACT [Orphanet:125]
synonym: "congenital telangiectatic erythema" RELATED [GARD:0000915]
synonym: "congenital telangiectatic erythema syndrome" EXACT [DOID:2717, NCIT:C2903]
synonym: "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability" RELATED [GARD:0000915]
synonym: "MGRISCE1" RELATED [MONDO:cjm]
synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900]
xref: DOID:2717 {source="MONDO:equivalentTo"}
xref: GARD:0000915 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.2 {source="Orphanet:125", source="ORDO:125/index", source="MONDO:directSiblingOf", source="ORDO:125/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:125/e", source="DOID:2717"}
xref: NCIT:C2903 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.75/0.88", source="DOID:2717"}
xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="ORDO:125/e", source="DOID:2717"}
xref: Orphanet:125 {source="MONDO:equivalentTo", source="OMIM:210900", source="DOID:2717"}
xref: SCTID:4434006 {source="MONDO:kboom-pr-1.00/0.79/8.32", source="MONDO:equivalentTo", source="DOID:2717"}
xref: UMLS:C0005859 {source="Orphanet:125", source="NCIT:C2903", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:125/e", source="OMIM:210900", source="DOID:2717"}
is_a: MONDO:0006025 {source="DOID:2717", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015329 {source="Orphanet:125", source="linkedlifedata/inferred"} ! malformation syndrome with short stature
is_a: MONDO:0015945 {source="Orphanet:125"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0015951 {source="Orphanet:125", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0019044 {source="Orphanet:125"} ! tumor of hematopoietic and lymphoid tissues
is_a: MONDO:0019304 {source="Orphanet:125"} ! rare photodermatosis
is_a: MONDO:0020629 {source="OMIM:210900"} ! microcephaly, growth restriction and increased sister chromatid exchange
property_value: exactMatch DOID:2717
property_value: exactMatch http://identifiers.org/mesh/D001816
property_value: exactMatch http://identifiers.org/omim/210900
property_value: exactMatch http://identifiers.org/snomedct/4434006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005859
property_value: exactMatch NCIT:C2903
property_value: exactMatch Orphanet:125
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome xsd:anyURI {source="GARD:0000915"}

[Term]
id: MONDO:0008877
name: blue diaper syndrome
def: "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." [Orphanet:94086]
subset: gard_rare {source="GARD:0005939"}
subset: ordo_disease {source="Orphanet:94086"}
synonym: "blue diaper syndrome" EXACT [OMIM:211000]
synonym: "Drummond syndrome" EXACT [Orphanet:94086]
synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086]
synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000]
xref: GARD:0005939 {source="MONDO:equivalentTo"}
xref: ICD10:E70.8 {source="ORDO:94086/inclusion", source="ORDO:94086/ntbt", source="Orphanet:94086"}
xref: MESH:C536239 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:94086/e", source="Orphanet:94086"}
xref: OMIM:211000 {source="MONDO:equivalentTo", source="ORDO:94086/e", source="Orphanet:94086"}
xref: Orphanet:94086 {source="OMIM:211000", source="MONDO:equivalentTo"}
xref: SCTID:59531002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.98"}
xref: UMLS:C0268478 {source="OMIM:211000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:94086/e", source="Orphanet:94086"}
is_a: MONDO:0019216 {source="Orphanet:94086"} ! inborn disorder of amino acid absorption and transport
property_value: exactMatch http://identifiers.org/mesh/C536239
property_value: exactMatch http://identifiers.org/omim/211000
property_value: exactMatch http://identifiers.org/snomedct/59531002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268478
property_value: exactMatch Orphanet:94086
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome xsd:anyURI {source="GARD:0005939"}

[Term]
id: MONDO:0008878
name: bone dysplasia, lethal Holmgren type
def: "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." [Orphanet:1842]
subset: gard_rare {source="GARD:0000922"}
subset: ordo_malformation_syndrome {source="Orphanet:1842"}
synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" EXACT [Orphanet:1842]
synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922]
synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120]
xref: GARD:0000922 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:1842/attributed", source="ORDO:1842/ntbt", source="Orphanet:1842"}
xref: MESH:C565896 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="ORDO:1842/e"}
xref: Orphanet:1842 {source="OMIM:211120", source="MONDO:equivalentTo"}
xref: SCTID:732249002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859407 {source="NCBI:mim2gene_medline", source="OMIM:211120", source="MONDO:equivalentTo", source="Orphanet:1842"}
is_a: MONDO:0019718 {source="Orphanet:1842"} ! lethal chondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C565896
property_value: exactMatch http://identifiers.org/omim/211120
property_value: exactMatch http://identifiers.org/snomedct/732249002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859407
property_value: exactMatch Orphanet:1842
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type xsd:anyURI {source="GARD:0000922"}

[Term]
id: MONDO:0008879
name: Bowen-Conradi syndrome
def: "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." [Orphanet:1270]
subset: gard_rare {source="GARD:0005950"}
subset: ordo_malformation_syndrome {source="Orphanet:1270"}
synonym: "Bowen Hutterite syndrome" RELATED [OMIM:211180]
synonym: "Bowen Hutterite syndrome (formerly)" RELATED [GARD:0005950]
synonym: "Bowen Hutterite syndrome, formerly" RELATED [OMIM:211180]
synonym: "Bowen syndrome, Hutterite type" EXACT [Orphanet:1270]
synonym: "Bowen-Conradi Hutterite syndrome" RELATED [GARD:0005950]
synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180]
synonym: "Bowen-Conradi syndrome; BWCNS" RELATED [OMIM:211180]
synonym: "BWCNS" RELATED [MONDO:Lexical, OMIM:211180]
xref: DOID:0050684 {source="MONDO:equivalentTo"}
xref: GARD:0005950 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1270/attributed", source="ORDO:1270/ntbt", source="Orphanet:1270"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537081 {source="MONDO:equivalentTo", source="ORDO:1270/e", source="MONDO:ontobio", source="Orphanet:1270"}
xref: OMIM:211180 {source="DOID:0050684", source="MONDO:equivalentTo", source="ORDO:1270/e", source="Orphanet:1270"}
xref: Orphanet:1270 {source="MONDO:equivalentTo", source="OMIM:211180"}
xref: SCTID:711153001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1859405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1270/e", source="Orphanet:1270", source="OMIM:211180"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0006025 {source="DOID:0050684", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:1270"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0050684
property_value: exactMatch http://identifiers.org/mesh/C537081
property_value: exactMatch http://identifiers.org/omim/211180
property_value: exactMatch http://identifiers.org/snomedct/711153001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859405
property_value: exactMatch Orphanet:1270
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome xsd:anyURI {source="GARD:0005950"}

[Term]
id: MONDO:0008880
name: Bowen syndrome of multiple malformations
synonym: "Bowen syndrome" EXACT [Orphanet:1271]
synonym: "Bowen syndrome of multiple malformations" EXACT [OMIM:211200]
xref: MESH:C538164 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211200 {source="MONDO:equivalentTo"}
xref: Orphanet:1271 {source="MONDO:equivalentTo", source="OMIM:211200"}
xref: UMLS:C1859404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538164
property_value: exactMatch http://identifiers.org/omim/211200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859404
property_value: exactMatch Orphanet:1271

[Term]
id: MONDO:0008881
name: kyphomelic dysplasia
def: "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." [https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia]
subset: gard_rare {source="GARD:0010149"}
subset: ordo_malformation_syndrome {source="Orphanet:1801"}
synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350]
synonym: "congenital bowing with short bones" RELATED [GARD:0010149]
synonym: "kyphomelic dysplasia" EXACT [OMIM:211350]
xref: GARD:0010149 {source="MONDO:equivalentTo"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538128 {source="MONDO:equivalentTo", source="ORDO:1801/e", source="MONDO:ontobio", source="Orphanet:1801"}
xref: OMIM:211350 {source="MONDO:equivalentTo", source="ORDO:1801/e", source="Orphanet:1801"}
xref: Orphanet:1801 {source="OMIM:211350", source="MONDO:equivalentTo"}
xref: SCTID:254096001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432239 {source="OMIM:211350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1801/e", source="Orphanet:1801"}
is_a: MONDO:0019698 {source="Orphanet:1801"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C538128
property_value: exactMatch http://identifiers.org/omim/211350
property_value: exactMatch http://identifiers.org/snomedct/254096001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432239
property_value: exactMatch Orphanet:1801
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia xsd:anyURI {source="GARD:0010149"}

[Term]
id: MONDO:0008882
name: congenital bowing of long bones
def: "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." [Orphanet:2292]
subset: gard_rare {source="GARD:0000953"}
subset: ordo_morphological_anomaly {source="Orphanet:2292"}
synonym: "bowing of long bones congenital" RELATED [GARD:0000953]
synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355]
xref: GARD:0000953 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.3 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"}
xref: ICD10:Q68.4 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"}
xref: ICD10:Q68.5 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"}
xref: ICD10:Q68.8 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"}
xref: MedDRA:10054064 {source="Orphanet:2292", source="ORDO:2292/e"}
xref: OMIM:211355 {source="MONDO:equivalentTo", source="Orphanet:2292", source="ORDO:2292/e"}
xref: Orphanet:2292 {source="MONDO:equivalentTo", source="OMIM:211355"}
xref: SCTID:716098006 {source="MONDO:equivalentTo"}
is_a: MONDO:0017427 {source="Orphanet:2292"} ! congenital deformities of limbs
is_a: MONDO:0019698 {source="Orphanet:2292"} ! bent bone dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859394
property_value: exactMatch http://identifiers.org/meddra/10054064
property_value: exactMatch http://identifiers.org/omim/211355
property_value: exactMatch http://identifiers.org/snomedct/716098006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096546
property_value: exactMatch Orphanet:2292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital xsd:anyURI {source="GARD:0000953"}

[Term]
id: MONDO:0008883
name: brachydactyly, type A2, with microcephaly
synonym: "brachydactyly, type A2, with microcephaly" EXACT [OMIM:211369]
xref: MESH:C565894 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211369 {source="MONDO:equivalentTo"}
xref: UMLS:C1859393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211369"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565894
property_value: exactMatch http://identifiers.org/omim/211369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859393

[Term]
id: MONDO:0008884
name: oculoosteocutaneous syndrome
def: "Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." [Orphanet:2713]
subset: ordo_malformation_syndrome {source="Orphanet:2713"}
synonym: "anodontia-hypotrichosis syndrome" RELATED [OMIM:211370]
synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" RELATED [OMIM:211370]
synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370]
xref: ICD10:Q87.5 {source="ORDO:2713/attributed", source="ORDO:2713/ntbt", source="Orphanet:2713"}
xref: MESH:C565893 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="ORDO:2713/e"}
xref: Orphanet:2713 {source="OMIM:211370", source="MONDO:equivalentTo"}
xref: SCTID:722061006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1859385 {source="OMIM:211370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2713"}
is_a: MONDO:0019287 {source="Orphanet:2713", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565893
property_value: exactMatch http://identifiers.org/omim/211370
property_value: exactMatch http://identifiers.org/snomedct/722061006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859385
property_value: exactMatch Orphanet:2713

[Term]
id: MONDO:0008885
name: Branchioskeletogenital syndrome
def: "Branchio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." [Orphanet:1299]
subset: ordo_malformation_syndrome {source="Orphanet:1299"}
synonym: "BRACHIOSKELETOGENITAL syndrome" RELATED [OMIM:211380]
synonym: "branchio-skeleto-genital syndrome" RELATED [GARD:0000955]
synonym: "BSG syndrome" EXACT [OMIM:211380, Orphanet:1299]
synonym: "Elsahy-Waters syndrome" EXACT [Orphanet:1299]
synonym: "ELSAHY-Waters syndrome; ESWS" RELATED [OMIM:211380]
synonym: "ESWS" RELATED [OMIM:211380]
xref: GARD:0000955 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1299", source="ORDO:1299/attributed", source="ORDO:1299/ntbt"}
xref: MESH:C537084 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211380 {source="Orphanet:1299", source="ORDO:1299/e", source="MONDO:equivalentTo"}
xref: Orphanet:1299 {source="OMIM:211380", source="MONDO:equivalentTo"}
xref: SCTID:719097002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1299", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1299"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015620 {source="Orphanet:1299"} ! syndromic urogenital tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0809936
property_value: exactMatch http://identifiers.org/mesh/C537084
property_value: exactMatch http://identifiers.org/omim/211380
property_value: exactMatch http://identifiers.org/snomedct/719097002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859384
property_value: exactMatch Orphanet:1299

[Term]
id: MONDO:0008886
name: Sabinas brittle hair syndrome
subset: gard_rare {source="GARD:0000313"}
synonym: "brittle hair and mental Deficit" RELATED [OMIM:211390]
synonym: "brittle hair syndrome, Sabinas type" EXACT [Orphanet:3123]
synonym: "Sabinas brittle hair syndrome" EXACT [OMIM:211390]
synonym: "Sabinas syndrome" RELATED [GARD:0000313]
xref: GARD:0000313 {source="MONDO:equivalentTo"}
xref: MESH:C536320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211390 {source="MONDO:equivalentTo"}
xref: Orphanet:3123 {source="MONDO:equivalentTo", source="OMIM:211390"}
xref: UMLS:C0796271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211390"}
is_a: MONDO:0003847 {source="MESH:C536320/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536320
property_value: exactMatch http://identifiers.org/omim/211390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796271
property_value: exactMatch Orphanet:3123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome xsd:anyURI {source="GARD:0000313"}

[Term]
id: MONDO:0008887
name: bronchiectasis with or without elevated sweat chloride 1
synonym: "BESC1" RELATED [MONDO:Lexical, OMIM:211400]
synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [MONDO:Lexical, OMIM:211400]
synonym: "bronchiectasis with or without elevated sweat chloride 1; BESC1" RELATED [OMIM:211400]
synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1, OMIM:211400]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:211400]
xref: MESH:C567618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211400 {source="MONDO:equivalentTo"}
xref: UMLS:C2749757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211400"}
is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis
property_value: exactMatch http://identifiers.org/mesh/C567618
property_value: exactMatch http://identifiers.org/omim/211400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749757

[Term]
id: MONDO:0008888
name: Williams-Campbell syndrome
subset: ordo_morphological_anomaly {source="Orphanet:411501"}
synonym: "BRONCHOMALACIA" RELATED [OMIM:211450]
synonym: "tracheobronchomalacia" RELATED [GARD:0007791]
synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450]
xref: GARD:0007791 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q33.4 {source="Orphanet:411501", source="ORDO:411501/ntbt"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:211450 {source="MONDO:equivalentTo"}
xref: Orphanet:411501 {source="MONDO:equivalentTo"}
xref: SCTID:54203008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.12"}
is_a: MONDO:0015930 {source="Orphanet:411501"} ! respiratory malformation
is_a: MONDO:0020023 {source="Orphanet:411501/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! respiratory or mediastinal malformation
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:411501"} ! non-syndromic respiratory or mediastinal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264353
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340231
property_value: exactMatch http://identifiers.org/omim/211450
property_value: exactMatch http://identifiers.org/snomedct/54203008
property_value: exactMatch Orphanet:411501

[Term]
id: MONDO:0008889
name: thromboangiitis obliterans
def: "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." [Orphanet:36258]
subset: ordo_disease {source="Orphanet:36258"}
synonym: "BUERGER disease" RELATED [OMIM:211480]
synonym: "Buerger's disease" EXACT [CSP2005:0571-6915, DOID:12918, NCIT:C35070]
synonym: "inflammatory occlusive peripheral vascular disease" RELATED [GARD:0005969]
synonym: "occlusive peripheral vascular disease" RELATED [GARD:0005969]
synonym: "presenile gangrene" EXACT [DOID:12918, MTHICD9_2006:443.1]
synonym: "TAO" RELATED [GARD:0005969]
synonym: "thromboangiitis obliterans" EXACT [DOID:12918, OMIM:211480, Orphanet:36258]
synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD9CM_2006:443.1]
xref: COHD:312939 {source="MONDO:equivalentTo"}
xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"}
xref: EFO:1001211 {source="MONDO:equivalentTo"}
xref: GARD:0005969 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I73.1 {source="EFO:1001211", source="ORDO:36258/e", source="DOID:12918", source="Orphanet:36258"}
xref: ICD9:443.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12918"}
xref: MedDRA:10043540 {source="EFO:1001211"}
xref: MESH:D013919 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918", source="MONDO:ontobio"}
xref: NCIT:C35070 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:211480 {source="EFO:1001211", source="MONDO:equivalentTo", source="ORDO:36258/e", source="DOID:12918", source="Orphanet:36258"}
xref: Orphanet:36258 {source="OMIM:211480", source="MONDO:equivalentTo"}
xref: SCTID:52403007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"}
xref: UMLS:C0040021 {source="OMIM:211480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12918", source="NCIT:C35070", source="Orphanet:36258"}
is_a: MONDO:0005294 {source="DOID:12918", source="EFO:1001211", source="MONDOLEX:0008889", source="NCIT:C35070"} ! peripheral vascular disease
is_a: MONDO:0015489 {source="Orphanet:36258"} ! predominantly medium-vessel vasculitis
is_a: MONDO:0019724 {source="Orphanet:36258"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/meddra/10043540
property_value: closeMatch http://identifiers.org/snomedct/155432001
property_value: closeMatch http://identifiers.org/snomedct/195298008
property_value: closeMatch http://identifiers.org/snomedct/195299000
property_value: closeMatch http://identifiers.org/snomedct/195300008
property_value: exactMatch DOID:12918
property_value: exactMatch http://identifiers.org/mesh/D013919
property_value: exactMatch http://identifiers.org/omim/211480
property_value: exactMatch http://identifiers.org/snomedct/52403007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040021
property_value: exactMatch NCIT:C35070
property_value: exactMatch Orphanet:36258

[Term]
id: MONDO:0008890
name: progressive bulbar palsy
def: "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." [https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy]
subset: gard_rare {source="GARD:0010928"}
synonym: "bulbar palsy, progressive, of childhood" RELATED [OMIM:211500]
synonym: "Fazio-Londe disease" RELATED [OMIM:211500]
synonym: "progressive bulbar atrophy" RELATED [GARD:0010928]
xref: COHD:436684 {source="MONDO:equivalentTo"}
xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"}
xref: EFO:0003783 {source="MONDO:equivalentTo"}
xref: GARD:0010928 {source="MONDO:equivalentTo"}
xref: ICD10:G12.22 {source="MONDO:equivalentTo", source="DOID:681"}
xref: ICD9:335.22 {source="EFO:0003783", source="DOID:681"}
xref: MESH:D010244 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681", source="MONDO:ontobio"}
xref: NCIT:C85026 {source="EFO:0003783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.47", source="DOID:681"}
xref: OMIM:211500 {source="EFO:0003783", source="MONDO:equivalentTo"}
xref: Orphanet:56965 {source="MONDO:obsoleteEquivalent", source="OMIM:211500"}
xref: SCTID:54304004 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"}
xref: UMLS:C0030442 {source="MONDO:equivalentTo", source="DOID:681", source="NCIT:C85026"}
is_a: MONDO:0002782 {source="NCIT:C85026"} ! cranial nerve palsy
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0006496 {source="EFO:0003783"} ! palsy
is_a: MONDO:0024537 ! Brown-Vialetto-van Laere syndrome 1
property_value: closeMatch http://identifiers.org/snomedct/230547002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015708
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393540
property_value: exactMatch DOID:681
property_value: exactMatch http://identifiers.org/mesh/D010244
property_value: exactMatch http://identifiers.org/omim/211500
property_value: exactMatch http://identifiers.org/snomedct/54304004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030442
property_value: exactMatch NCIT:C85026
property_value: exactMatch Orphanet:56965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy xsd:anyURI {source="GARD:0010928"}

[Term]
id: MONDO:0008891
name: riboflavin transporter deficiency
def: "Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." [Orphanet:97229]
subset: ordo_malformation_syndrome {source="Orphanet:97229"}
synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229]
synonym: "Brown-Vialetto-Van Laere syndrome 1" RELATED [MONDO:Lexical, OMIM:211530]
synonym: "BVVLS" RELATED [GARD:0009993]
synonym: "BVVLS1" RELATED [MONDO:Lexical, OMIM:211530]
synonym: "disorder of riboflavin transmembrane transporter activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of riboflavin transmembrane transporter activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "Fazio-Londe syndrome" EXACT [PMID:29473049]
synonym: "pontobulbar palsy and neurosensory deafness" RELATED [GARD:0009993]
synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:0009993]
synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern]
synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229]
xref: DOID:0050694 {source="MONDO:equivalentTo"}
xref: GARD:0009993 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G12.1 {source="ORDO:97229/attributed", source="ORDO:97229/ntbt", source="Orphanet:97229"}
xref: MESH:C537111 {source="ORDO:97229/e", source="MONDO:equivalentTo", source="Orphanet:97229"}
xref: OMIMPS:211530 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:97229 {source="MONDO:equivalentTo", source="OMIM:211530"}
xref: SCTID:699866005 {source="MONDO:equivalentTo"}
is_a: MONDO:0016114 {source="Orphanet:97229"} ! bulbospinal muscular atrophy of childhood
is_a: MONDO:0019589 {source="Orphanet:97229"} ! syndromic genetic deafness
is_a: MONDO:0044975 ! disease of transporter activity
property_value: exactMatch DOID:0050694
property_value: exactMatch http://identifiers.org/mesh/C537111
property_value: exactMatch http://identifiers.org/snomedct/699866005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796274
property_value: exactMatch Orphanet:97229

[Term]
id: MONDO:0008892
name: progressive familial intrahepatic cholestasis type 1
def: "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." [Orphanet:79306]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:79306"}
synonym: "Byler disease" EXACT [Orphanet:79306]
synonym: "Byler's disease" RELATED [GARD:0009802]
synonym: "cholestasis, fatal intrahepatic" RELATED [GARD:0009802]
synonym: "cholestasis, progressive familial intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:211600]
synonym: "cholestasis, progressive familial intrahepatic, 1; PFIC1" RELATED [OMIM:211600]
synonym: "cholestasis, progressive familial intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:211600]
synonym: "FIC1 deficiency" EXACT [Orphanet:79306]
synonym: "PFIC1" EXACT [GARD:0009802, MONDO:Lexical, OMIM:211600, Orphanet:79306]
synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802]
synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802]
xref: DOID:0070226 {source="MONDO:equivalentTo"}
xref: GARD:0009802 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="Orphanet:79306", source="ORDO:79306/attributed", source="ORDO:79306/ntbt"}
xref: OMIM:211600 {source="ORDO:79306/e", source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo"}
xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"}
xref: UMLS:CN205891 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015762 {source="MONDOLEX:0008892", source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch DOID:0070226
property_value: exactMatch http://identifiers.org/mesh/C535933
property_value: exactMatch http://identifiers.org/omim/211600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205891
property_value: exactMatch Orphanet:79306

[Term]
id: MONDO:0008893
name: C syndrome
def: "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." [Orphanet:1308]
subset: gard_rare {source="GARD:0005978"}
subset: ordo_malformation_syndrome {source="Orphanet:1308"}
synonym: "C syndrome" EXACT [OMIM:211750]
synonym: "Opitz C trigonocephaly" EXACT [Orphanet:1308]
synonym: "Opitz trigonocephaly C syndrome" EXACT [Orphanet:1308]
synonym: "Opitz trigonocephaly syndrome" EXACT [OMIM:211750, Orphanet:1308]
synonym: "OTCS" EXACT [Orphanet:1308]
synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308]
synonym: "trigonocephaly syndrome" RELATED [OMIM:211750]
xref: GARD:0005978 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1308/attributed", source="ORDO:1308/ntbt", source="Orphanet:1308"}
xref: MESH:C537418 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211750 {source="MONDO:equivalentTo", source="ORDO:1308/e", source="Orphanet:1308"}
xref: Orphanet:1308 {source="MONDO:equivalentTo", source="OMIM:211750"}
xref: SCTID:715409005 {source="MONDO:kboom-pr-1.00/0.79/7.65", source="MONDO:equivalentTo"}
xref: UMLS:C0796095 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211750", source="Orphanet:1308"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1308", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1308"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:1308"} ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537418
property_value: exactMatch http://identifiers.org/omim/211750
property_value: exactMatch http://identifiers.org/snomedct/715409005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796095
property_value: exactMatch Orphanet:1308
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5978/c-syndrome xsd:anyURI {source="GARD:0005978"}

[Term]
id: MONDO:0008894
name: cataract-hypertrichosis-intellectual disability syndrome
def: "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." [Orphanet:1375]
subset: ordo_malformation_syndrome {source="Orphanet:1375"}
synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375]
synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED [OMIM:211770]
xref: ICD10:Q87.8 {source="Orphanet:1375", source="ORDO:1375/attributed", source="ORDO:1375/ntbt"}
xref: MESH:C537959 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211770 {source="ORDO:1375/e", source="Orphanet:1375", source="MONDO:equivalentTo"}
xref: Orphanet:1375 {source="OMIM:211770", source="MONDO:equivalentTo"}
xref: SCTID:722379001 {source="MONDO:kboom-pr-1.00/0.75/7.08", source="MONDO:equivalentTo"}
xref: UMLS:C0796282 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:1375", source="OMIM:211770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1375"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:1375"} ! syndromic developmental defect of the eye
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019280 {source="MESH:C537959", source="Orphanet:1375", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease)
is_a: MONDO:0019287 {source="Orphanet:1375"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020225 {source="Orphanet:1375"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C537959
property_value: exactMatch http://identifiers.org/omim/211770
property_value: exactMatch http://identifiers.org/snomedct/722379001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796282
property_value: exactMatch Orphanet:1375

[Term]
id: MONDO:0008895
name: hereditary arterial and articular multiple calcification syndrome
def: "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." [Orphanet:289601]
subset: ordo_disease {source="Orphanet:289601"}
synonym: "ACDC" RELATED [GARD:0010762]
synonym: "arterial calcification and distal joint calcification" RELATED [GARD:0010762]
synonym: "arterial calcification due to CD73 deficiency" RELATED [GARD:0010762]
synonym: "arterial calcification due to deficiency of Cd73" RELATED [OMIM:211800]
synonym: "calcification of joints and arteries" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601]
synonym: "calcification of joints and arteries; CALJA" RELATED [OMIM:211800]
synonym: "CALJA" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601]
xref: GARD:0010762 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C565891 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211800 {source="ORDO:289601/e", source="MONDO:equivalentTo", source="Orphanet:289601"}
xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"}
xref: SCTID:718602007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1859372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211800"}
xref: UMLS:C4305347 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="Orphanet:289601"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C565891
property_value: exactMatch http://identifiers.org/omim/211800
property_value: exactMatch http://identifiers.org/snomedct/718602007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305347
property_value: exactMatch Orphanet:289601

[Term]
id: MONDO:0008896
name: campomelia, Cumming type
def: "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." [Orphanet:1318]
subset: gard_rare {source="GARD:0001061"}
subset: ordo_malformation_syndrome {source="Orphanet:1318"}
synonym: "campomelia Cumming type" RELATED [GARD:0001061]
synonym: "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" RELATED [GARD:0001061]
synonym: "campomelia, Cumming type" EXACT [OMIM:211890]
synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890]
synonym: "Cumming syndrome" RELATED [OMIM:211890]
xref: GARD:0001061 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1318/attributed", source="ORDO:1318/ntbt", source="Orphanet:1318"}
xref: MESH:C537966 {source="MONDO:equivalentTo", source="Orphanet:1318", source="MONDO:ontobio", source="ORDO:1318/e"}
xref: OMIM:211890 {source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"}
xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"}
xref: SCTID:720599002 {source="MONDO:kboom-pr-1.00/0.74/6.07", source="MONDO:equivalentTo"}
xref: UMLS:C1859371 {source="NCBI:mim2gene_medline", source="OMIM:211890", source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"}
is_a: MONDO:0018722 {source="Orphanet:1318"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1318"} ! syndromic lymphedema
is_a: MONDO:0019698 {source="Orphanet:1318"} ! bent bone dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:1318"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/mesh/C537966
property_value: exactMatch http://identifiers.org/omim/211890
property_value: exactMatch http://identifiers.org/snomedct/720599002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859371
property_value: exactMatch Orphanet:1318
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type xsd:anyURI {source="GARD:0001061"}

[Term]
id: MONDO:0008897
name: hyperphosphatemic familial tumoral calcinosis
def: "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." [Orphanet:306661]
subset: ordo_clinical_subtype {source="Orphanet:306661"}
synonym: "calcinosis, tumoral, with hyperphosphatemia" RELATED [OMIM:211900]
synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [DOID:0111063]
synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [DOID:0111063]
synonym: "familial Teutschlaender disease" EXACT [DOID:0111063]
synonym: "HFTC" EXACT [DOID:0111063, MONDO:Lexical, OMIM:211900]
synonym: "HFTC1" RELATED [OMIM:211900]
synonym: "HHS" BROAD [DOID:0111063]
synonym: "hypercalcemic tumoral calcinosis" EXACT [DOID:0111063, Orphanet:306661]
synonym: "hyperostosis with hyperphosphatemia" EXACT [DOID:0111063, OMIM:211900]
synonym: "hyperostosis-hyperphosphatemia syndrome" RELATED [OMIM:211900]
synonym: "hyperphosphatemia hyperostosis" EXACT [DOID:0111063]
synonym: "hyperphosphatemia hyperostosis syndrome" EXACT [DOID:0111063]
synonym: "hyperphosphatemia tumoral calcinosis" EXACT [DOID:0111063]
synonym: "lipocalcinogranulomatosis" EXACT [DOID:0111063]
synonym: "Morbus Teutschlaender" RELATED [OMIM:211900]
synonym: "morbus Teutschlaender" EXACT [DOID:0111063]
synonym: "PHPTC" EXACT [DOID:0111063]
synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [DOID:0111063]
synonym: "Teutschlaender disease, familial" RELATED [OMIM:211900]
synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [DOID:0111063]
synonym: "tumoral calcinosis, hyperphosphatemic, familial" RELATED [MONDO:Lexical, OMIM:211900]
synonym: "tumoral calcinosis, Hyperphosphatemic, familial, 1" RELATED [OMIM:211900]
synonym: "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1; HFTC1" RELATED [OMIM:211900]
synonym: "tumoral calcinosis, hyperphosphatemic, familial; HFTC" RELATED [OMIM:211900]
synonym: "tumoral calcinosis, primary Hyperphosphatemic" RELATED [OMIM:211900]
xref: DOID:0111063 {source="MONDO:equivalentTo"}
xref: GARD:0010879 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:M11.2 {source="ORDO:306661/attributed", source="ORDO:306661/ntbt", source="DOID:0111063", source="Orphanet:306661"}
xref: NCIT:C131851 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:211900 {source="DOID:0111063", source="MONDO:equivalentTo", source="ORDO:306661/e", source="Orphanet:306661"}
xref: Orphanet:306661 {source="DOID:0111063", source="MONDO:equivalentTo", source="OMIM:211900"}
xref: UMLS:C1876187 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131851", source="OMIM:211900"}
is_a: MONDO:0017743 {source="Orphanet:306661"} ! disorder of O-N-acetylgalactosaminylglycan synthesis
is_a: MONDO:0018293 {source="Orphanet:306661"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0018891 {source="DC-OMIM:211900", source="MONDOLEX:0008897", source="Orphanet:306661"} ! familial tumoral calcinosis
property_value: exactMatch DOID:0111063
property_value: exactMatch http://identifiers.org/omim/211900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876187
property_value: exactMatch NCIT:C131851
property_value: exactMatch Orphanet:306661

[Term]
id: MONDO:0008898
name: camptodactyly syndrome, Guadalajara type 1
def: "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." [Orphanet:1327]
subset: gard_rare {source="GARD:0001067"}
subset: ordo_malformation_syndrome {source="Orphanet:1327"}
synonym: "camptodactyly syndrome Guadalajara type 1" RELATED [GARD:0001067]
synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [OMIM:211910]
synonym: "camptodactyly syndrome, Guadalajara, type I" RELATED [MONDO:Lexical, OMIM:211910]
synonym: "camptodactyly syndrome, Guadalajara, type I; GCS1" RELATED [OMIM:211910]
synonym: "faciothoracoskeletal syndrome" RELATED [OMIM:211910]
synonym: "FTSS" RELATED [GARD:0001067]
synonym: "GCS 1" RELATED [GARD:0001067]
synonym: "GCS1" RELATED [MONDO:Lexical, OMIM:211910]
xref: GARD:0001067 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:1327/attributed", source="ORDO:1327/ntbt", source="Orphanet:1327"}
xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="ORDO:1327/e"}
xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="ORDO:1327/e"}
xref: Orphanet:1327 {source="MONDO:equivalentTo", source="OMIM:211910"}
xref: SCTID:720602007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C1859359 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1327", source="OMIM:211910"}
is_a: MONDO:0000111 {source="DC-OMIM:211910"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1327"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537970
property_value: exactMatch http://identifiers.org/omim/211910
property_value: exactMatch http://identifiers.org/snomedct/720602007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859359
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931679
property_value: exactMatch Orphanet:1327
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 xsd:anyURI {source="GARD:0001067"}

[Term]
id: MONDO:0008899
name: camptodactyly syndrome, Guadalajara type 2
def: "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." [Orphanet:1326]
subset: gard_rare {source="GARD:0001068"}
subset: ordo_malformation_syndrome {source="Orphanet:1326"}
synonym: "camptodactyly syndrome Guadalajara type 2" RELATED [GARD:0001068]
synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920]
synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920]
synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068]
xref: GARD:0001068 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:1326/attributed", source="ORDO:1326/ntbt", source="Orphanet:1326"}
xref: MESH:C567138 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211920 {source="MONDO:equivalentTo", source="ORDO:1326/e", source="Orphanet:1326"}
xref: Orphanet:1326 {source="MONDO:equivalentTo", source="OMIM:211920"}
xref: SCTID:720603002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0000111 {source="DC-OMIM:211920"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0017432 {source="Orphanet:1326"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1326"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673861
property_value: exactMatch http://identifiers.org/mesh/C537971
property_value: exactMatch http://identifiers.org/mesh/C567138
property_value: exactMatch http://identifiers.org/omim/211920
property_value: exactMatch http://identifiers.org/snomedct/720603002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931680
property_value: exactMatch Orphanet:1326
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 xsd:anyURI {source="GARD:0001068"}

[Term]
id: MONDO:0008900
name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
def: "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." [Orphanet:1321]
subset: ordo_malformation_syndrome
synonym: "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" EXACT [OMIM:211930]
synonym: "camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia" RELATED [GARD:0001064]
xref: GARD:0001064 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1321"}
xref: MESH:C537974 {source="Orphanet:1321", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211930 {source="Orphanet:1321", source="MONDO:equivalentTo"}
xref: Orphanet:1321 {source="MONDO:equivalentTo", source="OMIM:211930"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:1321"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859357
property_value: exactMatch http://identifiers.org/mesh/C537974
property_value: exactMatch http://identifiers.org/omim/211930
property_value: exactMatch Orphanet:1321

[Term]
id: MONDO:0008901
name: Tel Hashomer camptodactyly syndrome
def: "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." [Orphanet:3292]
subset: gard_rare {source="GARD:0005128"}
subset: ordo_malformation_syndrome {source="Orphanet:3292"}
synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960]
synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960]
xref: GARD:0005128 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.0 {source="ORDO:3292/attributed", source="ORDO:3292/ntbt", source="Orphanet:3292"}
xref: MESH:C536953 {source="MONDO:equivalentTo", source="ORDO:3292/e", source="MONDO:ontobio", source="Orphanet:3292"}
xref: OMIM:211960 {source="MONDO:equivalentTo", source="ORDO:3292/e", source="Orphanet:3292"}
xref: Orphanet:3292 {source="MONDO:equivalentTo", source="OMIM:211960"}
xref: SCTID:719946008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1859356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3292/e", source="OMIM:211960", source="Orphanet:3292"}
is_a: MONDO:0020120 {source="Orphanet:3292", source="Orphanet:3292/inferred"} ! skeletal muscle disease
property_value: exactMatch http://identifiers.org/mesh/C536953
property_value: exactMatch http://identifiers.org/omim/211960
property_value: exactMatch http://identifiers.org/snomedct/719946008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859356
property_value: exactMatch Orphanet:3292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome xsd:anyURI {source="GARD:0005128"}

[Term]
id: MONDO:0008902
name: camptodactyly-ichthyosis syndrome
subset: gard_rare {source="GARD:0010134"}
synonym: "camptodactyly ichthyosis syndrome" RELATED [GARD:0010134]
synonym: "camptodactyly-ichthyosis syndrome" EXACT [OMIM:211965]
xref: GARD:0010134 {source="MONDO:equivalentTo"}
xref: MESH:C537976 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211965 {source="MONDO:equivalentTo"}
xref: UMLS:C1859355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211965"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537976
property_value: exactMatch http://identifiers.org/omim/211965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome xsd:anyURI {source="GARD:0010134"}

[Term]
id: MONDO:0008903
name: lung cancer
def: "A malignant neoplasm involving the lung." [MONDO:DesignPattern]
synonym: "alveolar cell carcinoma" RELATED [OMIM:211980]
synonym: "cancer of lung" EXACT [MONDO:patterns/cancer]
synonym: "lung cancer" EXACT [MONDO:patterns/location]
synonym: "lung cancer, protection against" RELATED [OMIM:211980]
synonym: "lung neoplasm" RELATED [DOID:1324]
synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant lung tumor" EXACT [NCIT:C7377]
synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377]
synonym: "malignant neoplasm of the lung" EXACT [NCIT:C7377]
synonym: "malignant tumor of lung" EXACT [NCIT:C7377]
synonym: "malignant tumor of the lung" EXACT [NCIT:C7377]
synonym: "Nonsmall cell lung cancer" RELATED [OMIM:211980]
xref: DOID:1324 {source="MONDO:equivalentTo"}
xref: ICD10:C34.1 {source="DOID:1324"}
xref: ICD10:C34.2 {source="DOID:1324"}
xref: ICD10:C34.3 {source="DOID:1324"}
xref: ICD9:162.3 {source="DOID:1324"}
xref: ICD9:162.4 {source="DOID:1324"}
xref: ICD9:162.5 {source="DOID:1324"}
xref: ICD9:162.8 {source="MONDO:relatedTo", source="DOID:1324", source="i2s"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7377 {source="MONDO:equivalentTo"}
xref: OMIM:211980 {source="DOID:1324", source="MONDO:equivalentTo"}
xref: SCTID:363358000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000376 {source="DOID:1324", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer
is_a: MONDO:0003274 {source="MONDO:Redundant", source="NCIT:C7377", source="linkedlifedata"} ! thoracic cancer
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C7377", source="OWLReasoner:2017"} ! lung neoplasm
property_value: closeMatch http://identifiers.org/snomedct/187860004
property_value: closeMatch http://identifiers.org/snomedct/187863002
property_value: closeMatch http://identifiers.org/snomedct/187864008
property_value: closeMatch http://identifiers.org/snomedct/187867001
property_value: closeMatch http://identifiers.org/snomedct/187868006
property_value: closeMatch http://identifiers.org/snomedct/187871003
property_value: closeMatch http://identifiers.org/snomedct/187874006
property_value: closeMatch http://identifiers.org/snomedct/269464000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007120
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024624
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153491
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153492
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153493
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242379
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968897
property_value: exactMatch DOID:1324
property_value: exactMatch http://identifiers.org/omim/211980
property_value: exactMatch http://identifiers.org/snomedct/363358000
property_value: exactMatch NCIT:C7377

[Term]
id: MONDO:0008904
name: camptomelic syndrome, long-limb type
subset: gard_rare {source="GARD:0001071"}
synonym: "campomelic syndrome long limb type" RELATED [GARD:0001071]
synonym: "campomelic syndrome, long-limb type" RELATED [OMIM:211990]
synonym: "Camptomelic syndrome long limb type" RELATED [GARD:0001071]
synonym: "camptomelic syndrome, long-limb type" EXACT [OMIM:211990]
xref: GARD:0001071 {source="MONDO:equivalentTo"}
xref: MESH:C537977 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:211990 {source="MONDO:equivalentTo"}
xref: UMLS:C1859354 {source="OMIM:211990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C537977", source="ORDO:140/btnt"} ! campomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537977
property_value: exactMatch http://identifiers.org/omim/211990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859354
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type xsd:anyURI {source="GARD:0001071"}

[Term]
id: MONDO:0008905
name: predisposition to invasive fungal disease due to CARD9 deficiency
subset: ordo_disease {source="Orphanet:457088"}
synonym: "CANDF2" RELATED [MONDO:Lexical, OMIM:212050]
synonym: "candidiasis familial chronic mucocutaneous, autosomal recessive" RELATED [GARD:0001077]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:212050]
synonym: "candidiasis, familial, 2" RELATED [MONDO:Lexical, OMIM:212050]
synonym: "candidiasis, familial, 2; CANDF2" RELATED [OMIM:212050]
synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1, OMIM:212050]
synonym: "CARD9 deficiency" RELATED [GARD:0001077]
synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050]
synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088]
xref: GARD:0001077 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D84.8 {source="ORDO:457088/attributed", source="ORDO:457088/ntbt", source="Orphanet:457088"}
xref: OMIM:212050 {source="MONDO:equivalentTo", source="ORDO:457088/e", source="Orphanet:457088"}
xref: Orphanet:457088 {source="MONDO:equivalentTo"}
xref: UMLS:C1859353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212050"}
is_a: MONDO:0015279 {source="MONDOLEX:0008905", source="OMIM:212050"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/212050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859353
property_value: exactMatch Orphanet:457088

[Term]
id: MONDO:0008906
name: obsolete carbimazole sensitivity
synonym: "carbimazole sensitivity" EXACT [OMIM:212060]
xref: OMIM:212060 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859352
property_value: exactMatch http://identifiers.org/omim/212060
is_obsolete: true

[Term]
id: MONDO:0008907
name: PMM2-CDG
def: "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." [Orphanet:79318]
subset: ordo_disease {source="Orphanet:79318"}
synonym: "carbohydrate deficient glycoprotein syndrome type Ia" EXACT [Orphanet:79318]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" RELATED [GARD:0009826]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)" RELATED [GARD:0009826]
synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia" RELATED [OMIM:212065]
synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly" RELATED [OMIM:212065]
synonym: "CDG 1A" RELATED [GARD:0009826]
synonym: "CDG Ia" RELATED [OMIM:212065]
synonym: "CDG syndrome type Ia" EXACT [Orphanet:79318]
synonym: "CDG-Ia" EXACT [Orphanet:79318]
synonym: "CDG1A" EXACT [MONDO:Lexical, OMIM:212065, Orphanet:79318]
synonym: "CDGIa" EXACT [NCIT:C126868]
synonym: "congenital disorder of glycosylation type 1a" EXACT [Orphanet:79318]
synonym: "congenital disorder of glycosylation type Ia" EXACT [Orphanet:79318]
synonym: "congenital disorder of glycosylation, type Ia" RELATED [MONDO:Lexical, OMIM:212065]
synonym: "congenital disorder of glycosylation, type Ia; CDG1A" RELATED [OMIM:212065]
synonym: "Jaeken syndrome" RELATED [OMIM:212065]
synonym: "phosphomannomutase 2 deficiency" EXACT [OMIM:212065, Orphanet:79318]
synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826]
xref: GARD:0009826 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79318", source="ORDO:79318/attributed", source="ORDO:79318/ntbt"}
xref: MESH:C535739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126868 {source="MONDO:kboom-pr-1.00/0.91/29.16", source="MONDO:equivalentTo"}
xref: OMIM:212065 {source="ORDO:79318/e", source="Orphanet:79318", source="MONDO:equivalentTo"}
xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"}
xref: SCTID:459063003 {source="MONDO:equivalentTo"}
xref: UMLS:C0349653 {source="MEDGEN:kboom-pr98-c99", source="OMIM:212065", source="NCBI:mim2gene_medline", source="Orphanet:79318", source="MONDO:equivalentTo", source="NCIT:C126868"}
is_a: MONDO:0005500 {source="DC-OMIM:212065", source="MONDOLEX:0008907"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79318"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:79318"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:79318"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018293 {source="Orphanet:79318"} ! congenital disorder of glycosylation with skin involvement
property_value: exactMatch http://identifiers.org/mesh/C535739
property_value: exactMatch http://identifiers.org/omim/212065
property_value: exactMatch http://identifiers.org/snomedct/459063003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349653
property_value: exactMatch NCIT:C126868
property_value: exactMatch Orphanet:79318

[Term]
id: MONDO:0008908
name: MGAT2-CDG
def: "(14q21)." [Orphanet:79329]
subset: ordo_disease {source="Orphanet:79329"}
synonym: "Alkuraya syndrome" RELATED [OMIM:212066]
synonym: "carbohydrate deficient glycoprotein syndrome type IIa" EXACT [Orphanet:79329]
synonym: "carbohydrate-deficient glycoprotein syndrome type 2" RELATED [GARD:0009828]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [OMIM:212066]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [OMIM:212066]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly" RELATED [GARD:0009828]
synonym: "CDG 2A" RELATED [GARD:0009828]
synonym: "CDG IIa" RELATED [OMIM:212066]
synonym: "CDG syndrome type IIa" EXACT [Orphanet:79329]
synonym: "CDG-IIa" EXACT [Orphanet:79329]
synonym: "CDG2A" EXACT [MONDO:Lexical, OMIM:212066, Orphanet:79329]
synonym: "CDGS2" RELATED [GARD:0009828]
synonym: "congenital disorder of glycosylation type 2a" EXACT [Orphanet:79329]
synonym: "congenital disorder of glycosylation type IIa" EXACT [Orphanet:79329]
synonym: "congenital disorder of glycosylation, type IIa" RELATED [MONDO:Lexical, OMIM:212066]
synonym: "congenital disorder of glycosylation, type IIa; CDG2A" RELATED [OMIM:212066]
synonym: "mental retardation, Growth retardation, prominent columella, and open mouth" RELATED [OMIM:212066]
synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828]
synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329]
xref: DOID:0070253 {source="MONDO:equivalentTo"}
xref: GARD:0009828 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79329", source="ORDO:79329/attributed", source="ORDO:79329/ntbt"}
xref: MESH:C535752 {source="MONDO:equivalentTo"}
xref: OMIM:212066 {source="ORDO:79329/e", source="Orphanet:79329", source="MONDO:equivalentTo"}
xref: Orphanet:79329 {source="OMIM:212066", source="MONDO:equivalentTo"}
xref: SCTID:724142005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931008 {source="MEDGEN:kboom-pr98-c99", source="OMIM:212066", source="Orphanet:79329", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005501 {source="DC-OMIM:212066", source="MONDOLEX:0008908", source="OMIM:212066"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017740 {source="Orphanet:79329"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79329"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018290 {source="Orphanet:79329"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349654
property_value: exactMatch DOID:0070253
property_value: exactMatch http://identifiers.org/mesh/C535752
property_value: exactMatch http://identifiers.org/omim/212066
property_value: exactMatch http://identifiers.org/snomedct/724142005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931008
property_value: exactMatch Orphanet:79329

[Term]
id: MONDO:0008909
name: congenital disorder of glycosylation, type i/IIx
subset: gard_rare {source="GARD:0009840"}
synonym: "CDG X" RELATED [GARD:0009840]
synonym: "CDG-X" RELATED [OMIM:212067]
synonym: "congenital disorder of glycosylation type I/IIX" RELATED [GARD:0009840]
synonym: "congenital disorder of glycosylation, type i/IIx" EXACT [OMIM:212067]
xref: GARD:0009840 {source="MONDO:equivalentTo"}
xref: MESH:C562844 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212067 {source="MONDO:equivalentTo"}
xref: UMLS:C0349655 {source="OMIM:212067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562844/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562844
property_value: exactMatch http://identifiers.org/omim/212067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349655
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix xsd:anyURI {source="GARD:0009840"}

[Term]
id: MONDO:0008910
name: carboxypeptidase N deficiency
def: "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." [NCIT:C132196]
synonym: "carboxypeptidase N deficiency" EXACT [OMIM:212070]
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562876 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132196 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:212070 {source="MONDO:equivalentTo"}
xref: SCTID:234627009 {source="MONDO:kboom-pr-1.00/0.78/6.97", source="MONDO:equivalentTo"}
xref: UMLS:C0398782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C132196", source="OMIM:212070"}
is_a: MONDO:0003847 {source="MESH:C562876/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562876
property_value: exactMatch http://identifiers.org/omim/212070
property_value: exactMatch http://identifiers.org/snomedct/234627009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398782
property_value: exactMatch NCIT:C132196

[Term]
id: MONDO:0008911
name: cardiac lipidosis, familial
synonym: "cardiac lipidosis, familial" EXACT [OMIM:212080]
xref: MESH:C565884 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212080 {source="MONDO:equivalentTo"}
xref: UMLS:C1859332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212080"}
is_a: MONDO:0010771 {source="ORDO:137675/btnt"} ! histiocytoid cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C565884
property_value: exactMatch http://identifiers.org/omim/212080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859332

[Term]
id: MONDO:0008912
name: cardiac septal defects with coarctation of the aorta
synonym: "cardiac septal defects with coarctation of the aorta" EXACT [OMIM:212090]
xref: MESH:C565883 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212090 {source="MONDO:equivalentTo"}
xref: UMLS:C1859331 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212090"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565883
property_value: exactMatch http://identifiers.org/omim/212090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859331

[Term]
id: MONDO:0008913
name: cardiac valvular defect, developmental
synonym: "cardiac valvular defect, developmental" EXACT [OMIM:212093]
synonym: "CARDIAC valvular defect, developmental; CVDD" RELATED [OMIM:212093]
synonym: "CVDD" RELATED [OMIM:212093]
xref: MESH:C565882 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212093 {source="MONDO:equivalentTo"}
xref: UMLS:C1859330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212093"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565882
property_value: exactMatch http://identifiers.org/omim/212093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859330

[Term]
id: MONDO:0008914
name: cardioauditory syndrome of Sanchez Cascos
subset: gard_rare {source="GARD:0008519"}
synonym: "cardioauditory syndrome of Sanchez Cascos" EXACT [OMIM:212100]
synonym: "Sanchez Cascos cardioauditory syndrome" RELATED [GARD:0008519]
xref: GARD:0008519 {source="MONDO:equivalentTo"}
xref: MESH:C535577 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859329 {source="OMIM:212100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535577
property_value: exactMatch http://identifiers.org/omim/212100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos xsd:anyURI {source="GARD:0008519"}

[Term]
id: MONDO:0008915
name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." [Orphanet:2229]
subset: ordo_malformation_syndrome {source="Orphanet:2229"}
synonym: "Cardiogenital syndrome" EXACT [Orphanet:2229]
synonym: "cardiomyopathy with primary testicular failure" RELATED [OMIM:212112]
synonym: "cardiomyopathy, congestive, with hypergonadotropic hypogonadism" RELATED [OMIM:212112]
synonym: "cardiomyopathy, dilated, with hypergonadotropic hypogonadism" RELATED [OMIM:212112]
synonym: "cardiomyopathy, dilated, with premature ovarian failure" RELATED [OMIM:212112]
synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" RELATED [GARD:0003373]
synonym: "genital anomaly with cardiomyopathy" RELATED [OMIM:212112]
synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229]
synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229]
xref: GARD:0003373 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2229/attributed", source="ORDO:2229/ntbt", source="Orphanet:2229"}
xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="ORDO:2229/e"}
xref: Orphanet:2229 {source="MONDO:equivalentTo", source="OMIM:212112"}
xref: SCTID:719451006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.56"}
xref: UMLS:C0796031 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="ORDO:2229/e"}
xref: UMLS:C0796083 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="ORDO:2229/e"}
is_a: MONDO:0016337 {source="Orphanet:2229"} ! syndrome associated with dilated cardiomyopathy
property_value: exactMatch http://identifiers.org/omim/212112
property_value: exactMatch http://identifiers.org/snomedct/719451006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796083
property_value: exactMatch Orphanet:2229

[Term]
id: MONDO:0008916
name: cardiomyopathy associated with myopathy and sudden death
synonym: "cardiomyopathy associated with myopathy and sudden death" EXACT [OMIM:212130]
xref: MESH:C565881 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212130 {source="MONDO:equivalentTo"}
xref: UMLS:C1859328 {source="OMIM:212130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565881
property_value: exactMatch http://identifiers.org/omim/212130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859328

[Term]
id: MONDO:0008917
name: heart defects-limb shortening syndrome
def: "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." [Orphanet:1354]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1354"}
synonym: "cardioskeletal syndrome kuwaiti type" RELATED []
synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135]
synonym: "heart defect and limb shortening syndrome" EXACT []
synonym: "heart defects and limb shortening" RELATED [GARD:0002613]
xref: GARD:0002613 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:1354", source="ORDO:1354/attributed", source="ORDO:1354/ntbt"}
xref: MESH:C535850 {source="Orphanet:1354", source="ORDO:1354/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212135 {source="Orphanet:1354", source="ORDO:1354/e", source="GARD:0002613", source="MONDO:equivalentTo"}
xref: Orphanet:1354 {source="MONDO:equivalentTo", source="OMIM:212135"}
xref: SCTID:721009008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859327 {source="Orphanet:1354", source="ORDO:1354/e", source="NCBI:mim2gene_medline", source="GARD:0002613", source="MONDO:equivalentTo", source="OMIM:212135"}
is_a: MONDO:0005453 {source="MESH:C535850", source="MONDOLEX:0008917", source="linkedlifedata"} ! congenital heart disease
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1354"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535850
property_value: exactMatch http://identifiers.org/omim/212135
property_value: exactMatch http://identifiers.org/snomedct/721009008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859327
property_value: exactMatch Orphanet:1354
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type xsd:anyURI {source="GARD:0002613"}

[Term]
id: MONDO:0008918
name: carnitine-acylcarnitine translocase deficiency
def: "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." [Orphanet:159]
subset: gard_rare {source="GARD:0001123"}
subset: ordo_disease {source="Orphanet:159"}
synonym: "CACT deficiency" EXACT [Orphanet:159]
synonym: "Cact deficiency" RELATED [OMIM:212138]
synonym: "CACTD" RELATED [MONDO:Lexical, OMIM:212138]
synonym: "carnitine-acylcarnitine translocase deficiency" EXACT [MONDO:Lexical, OMIM:212138]
synonym: "CARNITINE-acylcarnitine translocase deficiency; CACTD" RELATED [OMIM:212138]
xref: GARD:0001123 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="Orphanet:159", source="ORDO:159/attributed", source="ORDO:159/ntbt"}
xref: MESH:C562812 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C133086 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="ORDO:159/e"}
xref: Orphanet:159 {source="MONDO:equivalentTo", source="OMIM:212138"}
xref: SCTID:238003000 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0342791 {source="Orphanet:159", source="NCIT:C133086", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212138", source="ORDO:159/e"}
is_a: MONDO:0016328 {source="Orphanet:159"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
is_a: MONDO:0017716 {source="Orphanet:159"} ! disorder of carnitine cycle and carnitine transport
property_value: exactMatch http://identifiers.org/mesh/C562812
property_value: exactMatch http://identifiers.org/omim/212138
property_value: exactMatch http://identifiers.org/snomedct/238003000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342791
property_value: exactMatch NCIT:C133086
property_value: exactMatch Orphanet:159
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency xsd:anyURI {source="GARD:0001123"}

[Term]
id: MONDO:0008919
name: systemic primary carnitine deficiency disease
def: "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." [Orphanet:158]
subset: ordo_disease {source="Orphanet:158"}
synonym: "Carnitine deficiency" EXACT [NCIT:C98864]
synonym: "Carnitine deficiency, primary" RELATED [OMIM:212140]
synonym: "CARNITINE deficiency, systemic primary" RELATED [MONDO:Lexical, OMIM:212140]
synonym: "CARNITINE deficiency, systemic primary; CDSP" RELATED [OMIM:212140]
synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine" RELATED [OMIM:212140]
synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine" RELATED [GARD:0005104]
synonym: "Carnitine plasma-membrane transporter deficiency" RELATED [GARD:0005104]
synonym: "Carnitine transporter defect" EXACT [Orphanet:158]
synonym: "carnitine transporter deficiency" EXACT [DOID:14365]
synonym: "Carnitine transporter, plasma-Membrane, deficiency of" RELATED [OMIM:212140]
synonym: "Carnitine uptake defect" RELATED [OMIM:212140]
synonym: "carnitine uptake defect" EXACT [DOID:14365]
synonym: "Carnitine uptake deficiency" EXACT [Orphanet:158]
synonym: "CDSP" EXACT [MONDO:Lexical, OMIM:212140, Orphanet:158]
synonym: "cud" EXACT [Orphanet:158]
synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [DOID:14365, Orphanet:158]
synonym: "primary carnitine deficiency" EXACT [DOID:14365, ICD9CM_2006:277.81]
synonym: "renal carnitine transport defect" EXACT [DOID:14365]
synonym: "SPCD" EXACT [Orphanet:158]
synonym: "systemic Carnitine deficiency" RELATED [OMIM:212140]
synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158]
xref: DOID:14365 {source="MONDO:equivalentTo"}
xref: GARD:0005104 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="Orphanet:158", source="ORDO:158/attributed", source="ORDO:158/ntbt"}
xref: ICD10:E71.41 {source="DOID:14365"}
xref: ICD10:E71.42 {source="DOID:14365"}
xref: ICD9:277.81 {source="DOID:14365"}
xref: ICD9:277.82 {source="DOID:14365"}
xref: MESH:C536778 {source="MONDO:equivalentTo", source="DOID:14365", source="MONDO:ontobio"}
xref: NCIT:C98864 {source="MONDO:equivalentTo", source="DOID:14365"}
xref: OMIM:212140 {source="Orphanet:158", source="MONDO:equivalentTo", source="DOID:14365", source="ORDO:158/e"}
xref: Orphanet:158 {source="OMIM:212140", source="MONDO:equivalentTo"}
xref: SCTID:21764004 {source="MONDO:equivalentTo", source="DOID:14365", source="MONDO:kboom-pr-1.00/0.91/28.44"}
xref: UMLS:C0342788 {source="OMIM:212140", source="Orphanet:158", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14365"}
is_a: MONDO:0004736 {source="DOID:14365"} ! inherited amino acid metabolic disorder
is_a: MONDO:0016117 {source="Orphanet:158"} ! muscular lipidosis
is_a: MONDO:0016336 {source="Orphanet:158"} ! fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
is_a: MONDO:0017716 {source="Orphanet:158"} ! disorder of carnitine cycle and carnitine transport
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1260388
property_value: exactMatch DOID:14365
property_value: exactMatch http://identifiers.org/mesh/C536778
property_value: exactMatch http://identifiers.org/omim/212140
property_value: exactMatch http://identifiers.org/snomedct/21764004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342788
property_value: exactMatch NCIT:C98864
property_value: exactMatch Orphanet:158

[Term]
id: MONDO:0008920
name: carnitine deficiency, myopathic
subset: gard_rare {source="GARD:0006616"}
synonym: "carnitine deficiency, myopathic" EXACT [OMIM:212160]
synonym: "myopathic carnitine deficiency" RELATED [GARD:0006616]
xref: GARD:0006616 {source="MONDO:equivalentTo"}
xref: MESH:C536100 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212160 {source="MONDO:equivalentTo"}
xref: UMLS:C1859318 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212160"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536100
property_value: exactMatch http://identifiers.org/omim/212160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859318
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency xsd:anyURI {source="GARD:0006616"}

[Term]
id: MONDO:0008921
name: carnosinemia
def: "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." [Orphanet:1361]
subset: ordo_disease {source="Orphanet:1361"}
synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361]
synonym: "carnosinemia" EXACT [OMIM:212200]
synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361]
xref: GARD:0006001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.8 {source="ORDO:1361/attributed", source="ORDO:1361/ntbt", source="Orphanet:1361"}
xref: NCIT:C125661 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:212200 {source="MONDO:equivalentTo", source="Orphanet:1361", source="ORDO:1361/e"}
xref: Orphanet:1361 {source="MONDO:equivalentTo", source="OMIM:212200"}
xref: SCTID:410052008 {source="MONDO:kboom-pr-0.89/0.76/0.23", source="MONDO:equivalentTo"}
xref: UMLS:C3495555 {source="NCIT:C125661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212200", source="Orphanet:1361"}
is_a: MONDO:0009351 ! homocarnosinosis
property_value: exactMatch http://identifiers.org/omim/212200
property_value: exactMatch http://identifiers.org/snomedct/410052008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495555
property_value: exactMatch NCIT:C125661
property_value: exactMatch Orphanet:1361

[Term]
id: MONDO:0008922
name: Sengers syndrome
def: "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." [Orphanet:1369]
subset: gard_rare {source="GARD:0001142"}
subset: ordo_disease {source="Orphanet:1369"}
synonym: "cardiomyopathic mitochondrial DNA depletion syndrome 10" RELATED [GARD:0001142]
synonym: "cardiomyopathy and cataract" RELATED [OMIM:212350]
synonym: "cataract and cardiomyopathy" RELATED [GARD:0001142]
synonym: "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" RELATED [Orphanet:1369]
synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132]
synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [OMIM:212350]
synonym: "Sengers syndrome" EXACT [OMIM:212350, Orphanet:1369]
xref: DOID:0080132 {source="MONDO:equivalentTo"}
xref: GARD:0001142 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1369/attributed", source="ORDO:1369/ntbt", source="Orphanet:1369"}
xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e", source="MONDO:ontobio"}
xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e"}
xref: Orphanet:1369 {source="OMIM:212350", source="MONDO:equivalentTo"}
xref: SCTID:717812000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.63"}
xref: UMLS:C1859317 {source="OMIM:212350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016327 {source="Orphanet:1369"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018120 {source="Orphanet:1369"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
is_a: MONDO:0018158 {source="OMIM:212350"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0020231 {source="Orphanet:1369"} ! cardiac disease with cataract
property_value: exactMatch DOID:0080132
property_value: exactMatch http://identifiers.org/mesh/C538280
property_value: exactMatch http://identifiers.org/omim/212350
property_value: exactMatch http://identifiers.org/snomedct/717812000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859317
property_value: exactMatch Orphanet:1369
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome xsd:anyURI {source="GARD:0001142"}

[Term]
id: MONDO:0008923
name: autosomal recessive palmoplantar keratoderma and congenital alopecia
def: "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." [Orphanet:1366]
subset: gard_rare {source="GARD:0001139"}
subset: ordo_disease {source="Orphanet:1366"}
synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1366]
synonym: "cass" RELATED [GARD:0001139]
synonym: "cataract, alopecia, sclerodactyly" RELATED [GARD:0001139]
synonym: "cataract, alopecia, sclerodactyly syndrome" RELATED [GARD:0001139]
synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [OMIM:212360, Orphanet:1366]
synonym: "palmoplantar keratoderma and congenital alopecia 2" RELATED [MONDO:Lexical, OMIM:212360]
synonym: "palmoplantar keratoderma and congenital alopecia 2; PPKCA2" RELATED [OMIM:212360]
synonym: "palmoplantar keratoderma and congenital alopecia type 2" EXACT [MONDORULE:1, OMIM:212360]
synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [Orphanet:1366]
synonym: "PPK-CA, Wallis type" EXACT [Orphanet:1366]
synonym: "Ppkca, Wallis type" RELATED [OMIM:212360]
synonym: "PPKCA2" RELATED [MONDO:Lexical, OMIM:212360]
xref: GARD:0001139 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:1366", source="ORDO:1366/attributed", source="ORDO:1366/ntbt"}
xref: ICD10:Q84.0 {source="Orphanet:1366", source="ORDO:1366/attributed", source="ORDO:1366/ntbt"}
xref: MESH:C535336 {source="ORDO:1366/e", source="Orphanet:1366", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212360 {source="ORDO:1366/e", source="Orphanet:1366", source="MONDO:equivalentTo"}
xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"}
xref: UMLS:C1859316 {source="OMIM:212360", source="ORDO:1366/e", source="NCBI:mim2gene_medline", source="Orphanet:1366", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017671 {source="Orphanet:1366"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019287 {source="Orphanet:1366"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535336
property_value: exactMatch http://identifiers.org/omim/212360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859316
property_value: exactMatch Orphanet:1366
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia xsd:anyURI {source="GARD:0001139"}

[Term]
id: MONDO:0008924
name: congenital cataract-ichthyosis syndrome
def: "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." [Orphanet:1376]
subset: ordo_disease {source="Orphanet:1376"}
synonym: "cataract and congenital ichthyosis" RELATED [OMIM:212400]
synonym: "Syndermotic cataract and congenital ichthyosis" RELATED [GARD:0001145]
xref: GARD:0001145 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538281 {source="Orphanet:1376", source="ORDO:1376/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212400 {source="Orphanet:1376", source="ORDO:1376/e", source="MONDO:equivalentTo"}
xref: Orphanet:1376 {source="MONDO:equivalentTo", source="OMIM:212400"}
xref: UMLS:C1859315 {source="Orphanet:1376", source="ORDO:1376/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212400"}
is_a: MONDO:0015218 {source="Orphanet:1376"} ! syndromic developmental defect of the eye
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017274 {source="Orphanet:1376"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0020233 {source="Orphanet:1376"} ! dentocutaneous disease with cataract
property_value: exactMatch http://identifiers.org/mesh/C538281
property_value: exactMatch http://identifiers.org/omim/212400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859315
property_value: exactMatch Orphanet:1376

[Term]
id: MONDO:0008925
name: cataract 46 juvenile-onset
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:212500"}
subset: gard_rare
synonym: "cataract 46, juvenile-onset" RELATED [OMIM:212500]
synonym: "cataract 46, juvenile-onset; CTRCT46" RELATED [OMIM:212500]
synonym: "cataract Hutterite type" RELATED [GARD:0001150]
synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500]
synonym: "cataract, juvenile, Hutterite type" RELATED [OMIM:212500]
synonym: "CTRCT46" EXACT [DOID:0110243]
synonym: "early-onset non-syndromic cataract caused by mutation in LEMD2" EXACT [MONDO:design_pattern]
synonym: "juvenilae cataract Hutterite type" EXACT [DOID:0110243]
synonym: "LEMD2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110243 {source="MONDO:equivalentTo"}
xref: GARD:0001150 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110243"}
xref: MESH:C538286 {source="MONDO:equivalentTo"}
xref: OMIM:212500 {source="MONDO:equivalentTo", source="DOID:0110243", source="GARD:0001150"}
xref: Orphanet:98987 {source="MONDO:obsoleteEquivalent", source="OMIM:212500"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220721
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876167
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931791
property_value: exactMatch DOID:0110243
property_value: exactMatch http://identifiers.org/mesh/C538286
property_value: exactMatch http://identifiers.org/omim/212500
property_value: exactMatch Orphanet:98987
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type xsd:anyURI {source="GARD:0001150"}

[Term]
id: MONDO:0008926
name: COFS syndrome
def: "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." [Orphanet:1466]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:1466"}
subset: prototype_pattern
synonym: "cerebro-oculo-facio-skeletal syndrome" EXACT [NCIT:C3817]
synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:1466]
synonym: "COFS" EXACT []
synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466]
xref: DC:0000076 {source="MONDO:equivalentTo"}
xref: GARD:0006027 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:1466", source="ORDO:1466/attributed", source="ORDO:1466/ntbt"}
xref: NCIT:C3817 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: OMIMPS:214150 {source="DC:0000076", source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="MONDO:equivalentTo"}
xref: UMLS:C0220722 {source="NCIT:C3817", source="Orphanet:1466", source="ORDO:1466/e", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016073 {source="Orphanet:1466"} ! syndromic microphthalmia
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021190 ! DNA repair disease
relationship: excluded_subClassOf MONDO:0016006 {source="Orphanet:1466"} ! Cockayne syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931277
property_value: exactMatch NCIT:C3817
property_value: exactMatch Orphanet:1466

[Term]
id: MONDO:0008927
name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
subset: ordo_disease {source="Orphanet:435930"}
synonym: "ODRMD" RELATED [MONDO:Lexical, OMIM:212550]
synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical, OMIM:212550]
synonym: "optic DISC anomalies with retinal and/or macular dystrophy; ODRMD" RELATED [OMIM:212550]
xref: ICD10:Q14.8 {source="Orphanet:435930", source="ORDO:435930/attributed", source="ORDO:435930/ntbt"}
xref: MESH:C565876 {source="MONDO:equivalentTo"}
xref: OMIM:212550 {source="ORDO:435930/e", source="Orphanet:435930", source="MONDO:equivalentTo"}
xref: Orphanet:435930 {source="MONDO:equivalentTo"}
xref: UMLS:CN237578 {source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:435930"} ! syndromic developmental defect of the eye
is_a: MONDO:0020149 {source="Orphanet:435930"} ! rare eye disease due to a differentiation anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859311
property_value: exactMatch http://identifiers.org/mesh/C565876
property_value: exactMatch http://identifiers.org/omim/212550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237578
property_value: exactMatch Orphanet:435930

[Term]
id: MONDO:0008928
name: cataract-ataxia-deafness syndrome
def: "Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." [Orphanet:1368]
subset: ordo_disease {source="Orphanet:1368"}
synonym: "Begeer syndrome" RELATED [GARD:0001141]
synonym: "cataract ataxia deafness" RELATED [GARD:0001141]
synonym: "cataract ataxia deafness syndrome" RELATED [GARD:0001141]
synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710]
synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141]
synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710]
xref: GARD:0001141 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="ORDO:1368/attributed", source="ORDO:1368/ntbt", source="Orphanet:1368"}
xref: MESH:C538283 {source="ORDO:1368/e", source="MONDO:equivalentTo", source="Orphanet:1368", source="MONDO:ontobio"}
xref: OMIM:212710 {source="ORDO:1368/e", source="MONDO:equivalentTo", source="Orphanet:1368"}
xref: Orphanet:1368 {source="MONDO:equivalentTo", source="OMIM:212710"}
xref: UMLS:C0796123 {source="ORDO:1368/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1368", source="OMIM:212710"}
is_a: MONDO:0000557 {source="Orphanet:1368"} ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:1368"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C538283
property_value: exactMatch http://identifiers.org/omim/212710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796123
property_value: exactMatch Orphanet:1368

[Term]
id: MONDO:0008929
name: cataract-intellectual disability-hypogonadism syndrome
def: "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." [Orphanet:1387]
subset: ordo_malformation_syndrome {source="Orphanet:1387"}
synonym: "cataract-mental retardation-hypogonadism" RELATED [OMIM:212720]
synonym: "MARTSOLF syndrome" RELATED [OMIM:212720]
synonym: "Martsolf syndrome" EXACT [Orphanet:1387]
xref: GARD:0003406 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1387", source="ORDO:1387/attributed", source="ORDO:1387/ntbt"}
xref: MESH:C536028 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212720 {source="Orphanet:1387", source="ORDO:1387/e", source="MONDO:equivalentTo"}
xref: Orphanet:1387 {source="MONDO:equivalentTo", source="OMIM:212720"}
xref: SCTID:722380003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796037 {source="Orphanet:1387", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212720"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1387", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1387"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:1387"} ! syndromic developmental defect of the eye
is_a: MONDO:0015890 {source="Orphanet:1387"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020225 {source="Orphanet:1387"} ! syndromic cataract
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536028
property_value: exactMatch http://identifiers.org/omim/212720
property_value: exactMatch http://identifiers.org/snomedct/722380003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796037
property_value: exactMatch Orphanet:1387

[Term]
id: MONDO:0008930
name: celiac disease, susceptibility to, 1
subset: predisposition
synonym: "celiac disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:212750]
synonym: "celiac disease, susceptibility to, 1; CELIAC1" RELATED [OMIM:212750]
synonym: "celiac disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:212750]
synonym: "celiac sprue, susceptibility to, 1" RELATED [OMIM:212750]
synonym: "CELIAC1" RELATED [MONDO:Lexical, OMIM:212750]
synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [OMIM:212750]
synonym: "susceptibility to celiac disease 1" RELATED [OMIM:212750]
xref: OMIM:212750 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:212750"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005130 ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859310
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/212750

[Term]
id: MONDO:0008931
name: Cenani-Lenz syndactyly syndrome
def: "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." [Orphanet:3258]
subset: ordo_malformation_syndrome {source="Orphanet:3258"}
synonym: "Cenani syndactylism" RELATED [OMIM:212780]
synonym: "Cenani syndactyly" EXACT [Orphanet:3258]
synonym: "Cenani-Lenz syndactyly" EXACT [OMIM:212780, Orphanet:3258]
synonym: "Cenani-Lenz syndactyly syndrome" EXACT [MONDO:Lexical, OMIM:212780]
synonym: "Cenani-Lenz syndactyly syndrome; CLSS" RELATED [OMIM:212780]
synonym: "Cenani-Lenz syndrome" RELATED [Orphanet:3258]
synonym: "Cenani-Lenz type syndactyly" RELATED [GARD:0005084]
synonym: "CLSS" RELATED [MONDO:Lexical, OMIM:212780]
synonym: "syndactyly Cenani Lenz type" RELATED [GARD:0005084]
synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258]
synonym: "syndactyly, type 7" RELATED [OMIM:212780]
xref: DOID:0090015 {source="MONDO:equivalentTo"}
xref: GARD:0005084 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.4 {source="Orphanet:3258", source="DOID:0090015", source="ORDO:3258/attributed", source="ORDO:3258/ntbt"}
xref: MESH:C538150 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212780 {source="ORDO:3258/e", source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015"}
xref: Orphanet:3258 {source="OMIM:212780", source="MONDO:equivalentTo", source="DOID:0090015"}
xref: SCTID:720633009 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:C1859309 {source="MEDGEN:kboom-pr98-c99", source="OMIM:212780", source="ORDO:3258/e", source="NCBI:mim2gene_medline", source="Orphanet:3258", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:3258"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch DOID:0090015
property_value: exactMatch http://identifiers.org/mesh/C538150
property_value: exactMatch http://identifiers.org/omim/212780
property_value: exactMatch http://identifiers.org/snomedct/720633009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859309
property_value: exactMatch Orphanet:3258

[Term]
id: MONDO:0008932
name: PCD
synonym: "PCD" EXACT [MONDO:Lexical, OMIM:212790]
synonym: "premature centromere division" RELATED [MONDO:Lexical, OMIM:212790]
synonym: "premature centromere division; PCD" RELATED [OMIM:212790]
synonym: "X-chromosome centromere peculiarity" RELATED [OMIM:212790]
xref: OMIM:212790 {source="MONDO:equivalentTo"}
xref: UMLS:C1859308 {source="OMIM:212790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/212790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859308

[Term]
id: MONDO:0008933
name: cephalin lipidosis
synonym: "cephalin lipidosis" EXACT [OMIM:212800]
xref: MESH:C565872 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212800 {source="MONDO:equivalentTo"}
xref: UMLS:C1859307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212800"}
is_a: MONDO:0003847 {source="MESH:C565872/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565872
property_value: exactMatch http://identifiers.org/omim/212800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859307

[Term]
id: MONDO:0008934
name: cerebellar ataxia-ectodermal dysplasia syndrome
def: "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." [Orphanet:1174]
subset: ordo_malformation_syndrome {source="Orphanet:1174"}
synonym: "cerebellar ataxia - ectodermal dysplasia" RELATED [GARD:0001189]
synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835]
synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189]
synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189]
xref: GARD:0001189 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="ORDO:1174/attributed", source="ORDO:1174/ntbt", source="Orphanet:1174"}
xref: MESH:C535350 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1174", source="ORDO:1174/e"}
xref: OMIM:212835 {source="MONDO:equivalentTo", source="Orphanet:1174", source="ORDO:1174/e"}
xref: Orphanet:1174 {source="MONDO:equivalentTo", source="OMIM:212835"}
xref: SCTID:715371006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C1859306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1174", source="OMIM:212835", source="ORDO:1174/e"}
is_a: MONDO:0019287 {source="MESH:C535350", source="MONDOLEX:0008934", source="Orphanet:1174", source="linkedlifedata"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535350
property_value: exactMatch http://identifiers.org/omim/212835
property_value: exactMatch http://identifiers.org/snomedct/715371006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859306
property_value: exactMatch Orphanet:1174

[Term]
id: MONDO:0008935
name: cerebellar ataxia-hypogonadism syndrome
def: "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term)." [Orphanet:1173]
subset: ordo_disease {source="Orphanet:1173"}
synonym: "cerebellar ataxia - hypogonadism" RELATED [GARD:0003314]
synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [OMIM:212840]
synonym: "GDHS" RELATED [MONDO:Lexical, OMIM:212840]
synonym: "Gordon Holmes syndrome" RELATED [MONDO:Lexical, OMIM:212840]
synonym: "Gordon Holmes syndrome; GDHS" RELATED [OMIM:212840]
synonym: "Gordon-Holmes syndrome" EXACT [Orphanet:1173]
synonym: "LHRH deficiency and ataxia" RELATED [OMIM:212840]
synonym: "luteinizing hormone releasing hormone, deficiency of with ataxia" RELATED [GARD:0003314]
synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [Orphanet:1173]
synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840]
xref: GARD:0003314 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:1173/attributed", source="ORDO:1173/ntbt", source="Orphanet:1173"}
xref: MESH:C565870 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212840 {source="MONDO:equivalentTo", source="ORDO:1173/e", source="Orphanet:1173"}
xref: Orphanet:1173 {source="MONDO:equivalentTo", source="OMIM:212840"}
xref: UMLS:C1859305 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212840", source="Orphanet:1173"}
is_a: MONDO:0000557 {source="Orphanet:1173"} ! hereditary ataxia
is_a: MONDO:0015890 {source="Orphanet:1173"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C565870
property_value: exactMatch http://identifiers.org/omim/212840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859305
property_value: exactMatch Orphanet:1173

[Term]
id: MONDO:0008936
name: cerebellar ataxia and neurosensory deafness
synonym: "cerebellar ataxia and neurosensory deafness" EXACT [OMIM:212850]
xref: MESH:C565869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212850 {source="MONDO:equivalentTo"}
xref: UMLS:C1859304 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565869
property_value: exactMatch http://identifiers.org/omim/212850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859304

[Term]
id: MONDO:0008937
name: cerebellar ataxia, benign, with thermoanalgesia
synonym: "cerebellar ataxia with loss of pain and temperature sensation" RELATED [OMIM:212890]
synonym: "cerebellar ataxia, benign, with thermoanalgesia" EXACT [OMIM:212890]
xref: MESH:C565868 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212890 {source="MONDO:equivalentTo"}
xref: UMLS:C1859303 {source="OMIM:212890", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565868
property_value: exactMatch http://identifiers.org/omim/212890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859303

[Term]
id: MONDO:0008938
name: early-onset cerebellar ataxia with retained tendon reflexes
def: "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." [Orphanet:1177]
subset: ordo_disease {source="Orphanet:1177"}
synonym: "ataxia, harding type" RELATED [GARD:0002600]
synonym: "cerebellar ataxia early onset with retained tendon reflex" RELATED [GARD:0002600]
synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED [MONDO:Lexical, OMIM:212895]
synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes; EOCA" RELATED [OMIM:212895]
synonym: "EOCA" EXACT [MONDO:Lexical, OMIM:212895, Orphanet:1177]
synonym: "EOCARR" EXACT [Orphanet:1177]
synonym: "Harding ataxia" EXACT [Orphanet:1177]
xref: GARD:0002600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:1177", source="ORDO:1177/attributed", source="ORDO:1177/ntbt"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535633 {source="ORDO:1177/e", source="Orphanet:1177", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:212895 {source="ORDO:1177/e", source="Orphanet:1177", source="MONDO:equivalentTo"}
xref: Orphanet:1177 {source="MONDO:equivalentTo", source="OMIM:212895"}
xref: SCTID:230228004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C0393520 {source="ORDO:1177/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:1177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212895"}
is_a: MONDO:0020046 {source="Orphanet:1177"} ! autosomal recessive degenerative and progressive cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C535633
property_value: exactMatch http://identifiers.org/omim/212895
property_value: exactMatch http://identifiers.org/snomedct/230228004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393520
property_value: exactMatch Orphanet:1177

[Term]
id: MONDO:0008939
name: isolated cerebellar hypoplasia/agenesis
def: "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." [NCIT:C98890]
subset: ordo_morphological_anomaly {source="Orphanet:1398"}
synonym: "cerebellar hypoplasia" RELATED [OMIM:213000]
synonym: "Chiari 4 malformation" EXACT [Orphanet:1398]
synonym: "Chiari IV malformation" EXACT [Orphanet:1398]
synonym: "congenital cerebellar Hypoplasia" EXACT [NCIT:C98890]
synonym: "isolated cerebellar agenesis" RELATED [Orphanet:1398]
synonym: "near total absence of cerebellum" EXACT [Orphanet:1398]
synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398]
xref: GARD:0001194 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="Orphanet:1398", source="ORDO:1398/ntbt"}
xref: MedDRA:10008033 {source="Orphanet:1398", source="ORDO:1398/e"}
xref: MESH:C562568 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98890 {source="MONDO:equivalentTo"}
xref: OMIM:213000 {source="MONDO:equivalentTo"}
xref: Orphanet:1398 {source="MONDO:equivalentTo"}
xref: SCTID:16026008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.21"}
is_a: MONDO:0017114 {source="Orphanet:1398"} ! global cerebellar malformation
property_value: exactMatch http://identifiers.org/meddra/10008033
property_value: exactMatch http://identifiers.org/mesh/C562568
property_value: exactMatch http://identifiers.org/omim/213000
property_value: exactMatch http://identifiers.org/snomedct/16026008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344488
property_value: exactMatch NCIT:C98890
property_value: exactMatch Orphanet:1398

[Term]
id: MONDO:0008940
name: endosteal sclerosis-cerebellar hypoplasia syndrome
def: "Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait." [Orphanet:85186]
subset: ordo_malformation_syndrome {source="Orphanet:85186"}
synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [OMIM:213002]
xref: GARD:0001195 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85186/attributed", source="ORDO:85186/ntbt", source="Orphanet:85186"}
xref: MESH:C535353 {source="MONDO:equivalentTo", source="ORDO:85186/e", source="MONDO:ontobio", source="Orphanet:85186"}
xref: OMIM:213002 {source="MONDO:equivalentTo", source="ORDO:85186/e", source="Orphanet:85186"}
xref: Orphanet:85186 {source="OMIM:213002", source="MONDO:equivalentTo"}
xref: UMLS:C1859301 {source="OMIM:213002", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85186/e", source="Orphanet:85186"}
is_a: MONDO:0017118 {source="Orphanet:85186"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:85186", source="Orphanet:85186/inferred"} ! genetic nervous system disorder
is_a: MONDO:0019703 {source="Orphanet:85186"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C535353
property_value: exactMatch http://identifiers.org/omim/213002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859301
property_value: exactMatch Orphanet:85186

[Term]
id: MONDO:0008941
name: hepatic fibrosis-renal cysts-intellectual disability syndrome
def: "Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." [Orphanet:2031]
subset: ordo_malformation_syndrome {source="Orphanet:2031"}
synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [OMIM:213010]
synonym: "Thompson Baraitser syndrome" RELATED [GARD:0005177]
synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031]
xref: GARD:0005177 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C565867 {source="MONDO:equivalentTo"}
xref: OMIM:213010 {source="MONDO:equivalentTo", source="ORDO:2031/e", source="Orphanet:2031"}
xref: Orphanet:2031 {source="OMIM:213010", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2031"} ! syndromic intellectual disability
is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:2031"} ! genetic parenchymatous liver disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019741 {source="Orphanet:2031"} ! familial cystic renal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859300
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931226
property_value: exactMatch http://identifiers.org/mesh/C565867
property_value: exactMatch http://identifiers.org/omim/213010
property_value: exactMatch Orphanet:2031

[Term]
id: MONDO:0008942
name: CPD2
synonym: "cerebelloparenchymal disorder II" RELATED [MONDO:Lexical, OMIM:213100]
synonym: "cerebelloparenchymal disorder II; CPD2" RELATED [OMIM:213100]
synonym: "CPD, late-onset recessive type" RELATED [OMIM:213100]
synonym: "CPD2" EXACT [MONDO:Lexical, OMIM:213100]
xref: MESH:C565866 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859299 {source="NCBI:mim2gene_medline", source="OMIM:213100", source="MONDO:equivalentTo"}
is_a: MONDO:0000114 {source="DC-OMIM:213100"} ! cerebelloparenchymal disorder
property_value: exactMatch http://identifiers.org/mesh/C565866
property_value: exactMatch http://identifiers.org/omim/213100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859299

[Term]
id: MONDO:0008943
name: autosomal recessive spinocerebellar ataxia 2
def: "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." [Orphanet:1170]
subset: ordo_disease {source="Orphanet:1170"}
synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170]
synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [DOID:0080061, MONDORULE:1, Orphanet:1170]
synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED [OMIM:213200]
synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [OMIM:213200]
synonym: "cerebelloparenchymal disorder 3" RELATED [OMIM:213200]
synonym: "CPD 3" RELATED [OMIM:213200]
synonym: "CPD3" RELATED [GARD:0001199]
synonym: "CPDIII" RELATED [GARD:0001199]
synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR2" EXACT [MONDO:Lexical, OMIM:213200, Orphanet:1170]
synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200]
synonym: "spinocerebellar ataxia, autosomal recessive 2; SCAR2" RELATED [OMIM:213200]
xref: DOID:0080061 {source="MONDO:equivalentTo"}
xref: GARD:0001199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.0 {source="ORDO:1170/attributed", source="ORDO:1170/ntbt", source="Orphanet:1170"}
xref: MESH:C565865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213200 {source="MONDO:equivalentTo", source="Orphanet:1170", source="ORDO:1170/e", source="DOID:0080061"}
xref: Orphanet:1170 {source="OMIM:213200", source="MONDO:equivalentTo"}
xref: SCTID:715369006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C1859298 {source="MEDGEN:kboom-pr98-c99", source="OMIM:213200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1170"}
is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:1170"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch DOID:0080061
property_value: exactMatch http://identifiers.org/mesh/C565865
property_value: exactMatch http://identifiers.org/omim/213200
property_value: exactMatch http://identifiers.org/snomedct/715369006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859298
property_value: exactMatch Orphanet:1170

[Term]
id: MONDO:0008944
name: Joubert syndrome 1
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cerebellooculorenal syndrome 1" RELATED [OMIM:213300]
synonym: "cerebellooculorenal syndrome 1" EXACT [DOID:0110980]
synonym: "cerebelloparenchymal disorder 4" RELATED [OMIM:213300]
synonym: "cerebelloparenchymal disorder IV" EXACT EXCLUDE [DOID:0110980]
synonym: "CORS1" EXACT [DOID:0110980]
synonym: "CPD4" EXACT [DOID:0110980]
synonym: "INPP5E Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS1" EXACT [DOID:0110980, MONDO:Lexical, OMIM:213300]
synonym: "Joubert syndrome" RELATED [OMIM:213300]
synonym: "Joubert syndrome 1" EXACT [MONDO:Lexical, OMIM:213300]
synonym: "Joubert syndrome 1; JBTS1" RELATED [OMIM:213300]
synonym: "Joubert syndrome caused by mutation in INPP5E" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 1" EXACT [DOID:0110980, MONDORULE:1, OMIM:213300]
synonym: "Joubert-Boltshauser syndrome" RELATED [OMIM:213300]
xref: DOID:0110980 {source="MONDO:equivalentTo"}
xref: OMIM:213300 {source="MONDO:equivalentTo", source="DOID:0110980"}
xref: UMLS:CN119531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:213300", source="DOID:0110980", source="MONDO:Redundant", source="OMIM:213300"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431399
property_value: exactMatch DOID:0110980
property_value: exactMatch http://identifiers.org/omim/213300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119531

[Term]
id: MONDO:0008945
name: myoclonic cerebellar dyssynergia
def: "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527]
synonym: "cerebelloparenchymal disorder 5" RELATED [OMIM:213400]
synonym: "cerebelloparenchymal disorder type 5" EXACT [MONDORULE:1, OMIM:213400]
synonym: "cerebelloparenchymal disorder V" RELATED [MONDO:Lexical, OMIM:213400]
synonym: "cerebelloparenchymal disorder V; CPD5" RELATED [OMIM:213400]
synonym: "CPD5" RELATED [MONDO:Lexical, OMIM:213400]
synonym: "dyssynergia cerebellaris myoclonica" EXACT [DOID:12707, MTHICD9_2006:334.2]
synonym: "dyssynergia cerebellaris myoclonica of Hunt" RELATED [OMIM:213400]
synonym: "progressive cerebellar tremor" EXACT [DOID:12707]
synonym: "Ramsay Hunt cerebellar syndrome" RELATED [https://en.wikipedia.org/wiki/Ramsay_Hunt_syndrome_type_1]
synonym: "Ramsay Hunt syndrome type 1" RELATED [https://en.wikipedia.org/wiki/Ramsay_Hunt_syndrome_type_1]
synonym: "Spinodentate atrophy" RELATED [OMIM:213400]
xref: DOID:12707 {source="EFO:1001053", source="MONDO:equivalentTo"}
xref: EFO:1001053 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="MONDO:subClassOf", source="DOID:12707"}
xref: MESH:D002527 {source="EFO:1001053", source="MONDO:equivalentTo", source="DOID:12707", source="MONDO:ontobio"}
xref: OMIM:213400 {source="MONDO:equivalentTo", source="DOID:12707"}
xref: SCTID:73495003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12707"}
xref: UMLS:C0007761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12707"}
is_a: MONDO:0000114 {source="DC-OMIM:213400"} ! cerebelloparenchymal disorder
is_a: MONDO:0024237 {source="MESH:D002527/inferred"} ! inherited neurodegenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/192871008
property_value: closeMatch http://identifiers.org/snomedct/41009006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489626
property_value: exactMatch DOID:12707
property_value: exactMatch http://identifiers.org/mesh/D002527
property_value: exactMatch http://identifiers.org/omim/213400
property_value: exactMatch http://identifiers.org/snomedct/73495003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007761

[Term]
id: MONDO:0008946
name: cerebral angiopathy, dysphoric
synonym: "cerebral angiopathy, dysphoric" EXACT [OMIM:213500]
xref: MESH:C565864 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213500 {source="MONDO:equivalentTo"}
xref: UMLS:C1859283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565864
property_value: exactMatch http://identifiers.org/omim/213500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859283

[Term]
id: MONDO:0008947
name: bilateral striopallidodentate calcinosis
def: "Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." [Orphanet:1980]
comment: Encompasses a range of disorders with different etiology, see {source="https://doi.org/10.1186/s12883-016-0693-1"}
subset: ordo_disease {source="Orphanet:1980"}
synonym: "basal ganglia calcification" EXACT [MONDO:0000720]
synonym: "basal ganglia calcification, idiopathic" RELATED [OMIMPS:213600]
synonym: "basal ganglia calcification, idiopathic, 1" RELATED [MONDO:Lexical, OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, type 1" EXACT [MONDORULE:1, OMIM:213600]
synonym: "basal ganglia degeneration with calcification" EXACT []
synonym: "BSPDC" EXACT [Orphanet:1980]
synonym: "cerebrovascular ferrocalcinosis" EXACT [Orphanet:1980]
synonym: "Fahr disease" NARROW DEPRECATED [DOID:0060230]
synonym: "IBGC1" RELATED [MONDO:Lexical, OMIM:213600]
synonym: "idiopathic basal ganglia calcification" EXACT [Orphanet:1980]
synonym: "idiopathic basal ganglia calcification 1" EXACT [NCIT:C129973]
synonym: "PFBC" EXACT [Orphanet:1980]
synonym: "primary familial brain calcification" EXACT [Orphanet:1980]
xref: DOID:0060230 {source="MONDO:equivalentTo"}
xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"}
xref: ICD10:G23.8 {source="Orphanet:1980", source="ORDO:1980/inclusion", source="ORDO:1980/ntbt"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059626 {source="ORDO:1980/e", source="Orphanet:1980"}
xref: MESH:C536275 {source="DOID:0060230", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129973 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: OMIMPS:213600 {source="MONDO:equivalentTo", source="DC:0000478"}
xref: Orphanet:1980 {source="MONDO:equivalentTo", source="OMIM:213600"}
xref: SCTID:110997000 {source="DOID:0060230", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: SCTID:230311004 {source="MONDO:equivalentTo"}
xref: UMLS:C0393589 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN852731 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003996 {source="DOID:0060230", source="MESH:C536275", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! basal ganglia disease
is_a: MONDO:0015547 {source="Orphanet:1980"} ! genetic dementia
is_a: MONDO:0017662 {source="Orphanet:1980"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch DOID:0060230
property_value: exactMatch http://identifiers.org/meddra/10059626
property_value: exactMatch http://identifiers.org/mesh/C536275
property_value: exactMatch http://identifiers.org/snomedct/110997000
property_value: exactMatch http://identifiers.org/snomedct/230311004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN852731
property_value: exactMatch NCIT:C129973
property_value: exactMatch Orphanet:1980

[Term]
id: MONDO:0008948
name: cerebrotendinous xanthomatosis
def: "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." [Orphanet:909]
subset: gard_rare {source="GARD:0005622"}
subset: ordo_disease {source="Orphanet:909"}
synonym: "cerebral cholesterinosis" RELATED [OMIM:213700]
synonym: "cerebrotendinous xanthomatosis" EXACT [MONDO:Lexical, OMIM:213700]
synonym: "cerebrotendinous xanthomatosis; CTx" RELATED [OMIM:213700]
synonym: "cholestanol storage disease" EXACT [DOID:4810]
synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909]
synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909]
xref: DOID:4810 {source="MONDO:equivalentTo"}
xref: GARD:0005622 {source="MONDO:equivalentTo"}
xref: ICD10:E75.5 {source="ORDO:909/ntbt", source="ORDO:909/inclusion", source="Orphanet:909"}
xref: MESH:D019294 {source="MONDO:equivalentTo", source="DOID:4810", source="ORDO:909/e", source="MONDO:ontobio", source="Orphanet:909"}
xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:213700 {source="MONDO:equivalentTo", source="DOID:4810", source="ORDO:909/e", source="Orphanet:909"}
xref: Orphanet:909 {source="MONDO:equivalentTo", source="OMIM:213700"}
xref: SCTID:63246000 {source="MONDO:equivalentTo", source="DOID:4810", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0238052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4810", source="NCIT:C84628", source="ORDO:909/e", source="OMIM:213700", source="Orphanet:909"}
is_a: MONDO:0002615 {source="DOID:4810", source="linkedlifedata"} ! xanthomatosis (disease)
is_a: MONDO:0015581 {source="Orphanet:909"} ! bile acid synthesis defect with cholestasis and malabsorption
is_a: MONDO:0015905 {source="MONDO:Redundant", source="Orphanet:909"} ! syndromic dyslipidemia
is_a: MONDO:0016133 {source="Orphanet:909"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016397 ! lysosomal disease with epilepsy
is_a: MONDO:0016405 {source="Orphanet:909"} ! sterol metabolism disorder with epilepsy
is_a: MONDO:0019046 {source="Orphanet:909"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:909"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019296 {source="Orphanet:909"} ! subcutaneous tissue disease
is_a: MONDO:0020044 {source="Orphanet:909"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020143 {source="Orphanet:909"} ! cerebral lipidosis with dementia
is_a: MONDO:0020280 {source="Orphanet:909"} ! metabolic disease with cataract
is_a: MONDO:0045016 ! cholesterol catabolic process disease
property_value: exactMatch DOID:4810
property_value: exactMatch http://identifiers.org/mesh/D019294
property_value: exactMatch http://identifiers.org/omim/213700
property_value: exactMatch http://identifiers.org/snomedct/63246000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238052
property_value: exactMatch NCIT:C84628
property_value: exactMatch Orphanet:909
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis xsd:anyURI {source="GARD:0005622"}

[Term]
id: MONDO:0008949
name: cerebral malformation, seizures, hypertrichosis, and overlapping fingers
synonym: "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" EXACT [OMIM:213820]
synonym: "Muller Barth Menger syndrome" RELATED [GARD:0003812]
xref: GARD:0003812 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213820 {source="MONDO:equivalentTo"}
xref: UMLS:C1859259 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213820"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537370
property_value: exactMatch http://identifiers.org/omim/213820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859259

[Term]
id: MONDO:0008950
name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease
subset: gard_rare {source="GARD:0007348"}
synonym: "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" EXACT [OMIM:213900]
xref: GARD:0007348 {source="MONDO:equivalentTo"}
xref: MESH:C536318 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213900 {source="MONDO:equivalentTo"}
is_a: MONDO:0010714 {source="MONDOLEX:0008950", source="ORDO:702/btnt"} ! Pelizaeus-Merzbacher disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859258
property_value: exactMatch http://identifiers.org/mesh/C536318
property_value: exactMatch http://identifiers.org/omim/213900
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease xsd:anyURI {source="GARD:0007348"}

[Term]
id: MONDO:0008951
name: cerebrocortical degeneration of infancy
synonym: "cerebrocortical degeneration of infancy" EXACT [OMIM:213950]
xref: MESH:C565863 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213950 {source="MONDO:equivalentTo"}
xref: UMLS:C1859257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213950"}
is_a: MONDO:0003847 {source="MESH:C565863/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565863
property_value: exactMatch http://identifiers.org/omim/213950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859257

[Term]
id: MONDO:0008952
name: cerebrofaciothoracic dysplasia
def: "Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." [Orphanet:1394]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1394"}
synonym: "cerebro facio thoracic dysplasia" RELATED [GARD:0001210]
synonym: "cerebrofaciothoracic dysplasia" EXACT [GARD:0001210, OMIM:213980]
synonym: "CFSMR" RELATED [MONDO:Lexical, OMIM:213980]
synonym: "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:213980]
synonym: "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; CFSMR" RELATED [OMIM:213980]
synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210]
synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394]
xref: GARD:0001210 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:1394/attributed", source="ORDO:1394/ntbt", source="Orphanet:1394"}
xref: MESH:C565862 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:213980 {source="GARD:0001210", source="MONDO:equivalentTo", source="Orphanet:1394", source="ORDO:1394/e"}
xref: Orphanet:1394 {source="OMIM:213980", source="MONDO:equivalentTo"}
xref: SCTID:720635002 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1394", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1394"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019711 {source="Orphanet:1394"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859252
property_value: exactMatch http://identifiers.org/mesh/C565862
property_value: exactMatch http://identifiers.org/omim/213980
property_value: exactMatch http://identifiers.org/snomedct/720635002
property_value: exactMatch Orphanet:1394
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia xsd:anyURI {source="GARD:0001210"}

[Term]
id: MONDO:0008953
name: peroxisome biogenesis disorder 1A (Zellweger)
synonym: "Cerebrohepatorenal syndrome" RELATED [OMIM:214100]
synonym: "PBD1A" RELATED [MONDO:Lexical, OMIM:214100]
synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT [MONDO:Lexical, OMIM:214100]
synonym: "peroxisome biogenesis disorder 1A (Zellweger); PBD1A" RELATED [OMIM:214100]
synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [OMIM:214100]
synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [OMIM:214100]
synonym: "Zs" RELATED [OMIM:214100]
xref: OMIM:214100 {source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:214100", source="MONDOLEX:0008953", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865803
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865804
property_value: exactMatch http://identifiers.org/omim/214100

[Term]
id: MONDO:0008954
name: peroxisome biogenesis disorder 2A (Zellweger)
synonym: "PBD2A" RELATED [MONDO:Lexical, OMIM:214110]
synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT [MONDO:Lexical, OMIM:214110]
synonym: "peroxisome biogenesis disorder 2A (Zellweger); PBD2A" RELATED [OMIM:214110]
synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [OMIM:214110]
xref: OMIM:214110 {source="MONDO:equivalentTo"}
xref: UMLS:C3550273 {source="OMIM:214110", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:214110", source="MONDOLEX:0008954", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859228
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3550274
property_value: exactMatch http://identifiers.org/omim/214110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550273

[Term]
id: MONDO:0008955
name: cerebrooculofacioskeletal syndrome 1
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [MONDO:Lexical, OMIM:214150]
synonym: "cerebrooculofacioskeletal syndrome 1; COFS1" EXACT [OMIM:214150]
synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1, OMIM:214150]
synonym: "COFS syndrome" BROAD [OMIM:214150]
synonym: "COFS syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "COFS1" EXACT [MONDO:Lexical, OMIM:214150]
synonym: "ERCC6 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pena-Shokeir syndrome, type 2" RELATED [OMIM:214150]
xref: OMIM:214150 {source="MONDO:equivalentTo"}
is_a: MONDO:0008926 {source="DC-OMIM:214150", source="MONDO:Redundant", source="OMIM:214150"} ! COFS syndrome
property_value: exactMatch http://identifiers.org/omim/214150

[Term]
id: MONDO:0008956
name: congenital neuronal ceroid lipofuscinosis
def: "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." [Orphanet:168486]
subset: ordo_disease {source="Orphanet:168486"}
synonym: "ceroid storage disease" RELATED [OMIM:214200]
synonym: "congenital NCL" EXACT [Orphanet:168486]
synonym: "lipofuscin storage disease" RELATED [OMIM:214200]
xref: GARD:0009447 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="Orphanet:168486", source="ORDO:168486/attributed", source="ORDO:168486/ntbt"}
xref: OMIM:214200 {source="MONDO:equivalentTo"}
xref: Orphanet:168486 {source="MONDO:equivalentTo"}
xref: SCTID:720830009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.83"}
is_a: MONDO:0019261 {source="ORDO:79263/btnt"} ! infantile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864670
property_value: exactMatch http://identifiers.org/omim/214200
property_value: exactMatch http://identifiers.org/snomedct/720830009
property_value: exactMatch Orphanet:168486

[Term]
id: MONDO:0008957
name: cervical vertebrae, agenesis of
synonym: "cervical vertebrae, agenesis of" EXACT [OMIM:214290]
xref: MESH:C562952 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:214290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432160
property_value: exactMatch http://identifiers.org/mesh/C562952
property_value: exactMatch http://identifiers.org/omim/214290

[Term]
id: MONDO:0008958
name: Klippel-Feil syndrome 2, autosomal recessive
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cervical vertebral fusion, autosomal recessive" RELATED [OMIM:214300]
synonym: "isolated Klippel-Feil syndrome caused by mutation in MEOX1" EXACT [MONDO:design_pattern]
synonym: "Kfs, autosomal recessive" RELATED [OMIM:214300]
synonym: "KFS2" RELATED [MONDO:Lexical, OMIM:214300]
synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:214300]
synonym: "Klippel-FEIL syndrome 2, autosomal recessive; KFS2" RELATED [OMIM:214300]
synonym: "MEOX1 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C536888 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:214300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859209 {source="OMIM:214300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/mesh/C536888
property_value: exactMatch http://identifiers.org/omim/214300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859209

[Term]
id: MONDO:0008959
name: CHAND syndrome
synonym: "CHAND syndrome; CHANDS" RELATED [OMIM:214350]
synonym: "CHANDS" EXACT [OMIM:214350]
synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [OMIM:214350]
xref: MESH:C538074 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:214350 {source="MONDO:equivalentTo"}
xref: Orphanet:1401 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: SCTID:239037001 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0406733 {source="OMIM:214350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN199447 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538074
property_value: exactMatch http://identifiers.org/omim/214350
property_value: exactMatch http://identifiers.org/snomedct/239037001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199447
property_value: exactMatch Orphanet:1401

[Term]
id: MONDO:0008960
name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
def: "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." [Orphanet:90103]
subset: ordo_malformation_syndrome {source="Orphanet:90103"}
synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [OMIM:214370]
synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370]
synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103]
synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED [OMIM:214370]
xref: ICD10:G60.0 {source="ORDO:90103/attributed", source="ORDO:90103/ntbt", source="Orphanet:90103"}
xref: OMIM:214370 {source="MONDO:equivalentTo", source="ORDO:90103/e", source="Orphanet:90103"}
xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"}
xref: SCTID:715666007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:90103", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015361 {source="Orphanet:90103"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0019589 {source="Orphanet:90103"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859206
property_value: exactMatch http://identifiers.org/omim/214370
property_value: exactMatch http://identifiers.org/snomedct/715666007
property_value: exactMatch Orphanet:90103

[Term]
id: MONDO:0008961
name: Charcot-Marie-Tooth disease type 4A
def: "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." [Orphanet:99948]
subset: gard_rare {source="GARD:0001252"}
subset: ordo_disease {source="Orphanet:99948"}
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185]
synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [OMIM:214400]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [OMIM:214400]
synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical, OMIM:214400]
synonym: "Charcot-Marie-Tooth disease, type 4A; CMT4A" RELATED [OMIM:214400]
synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [DOID:0110185]
synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400]
synonym: "CMT4A" EXACT [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948]
synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110185 {source="MONDO:equivalentTo"}
xref: GARD:0001252 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99948/attributed", source="ORDO:99948/ntbt", source="DOID:0110185", source="Orphanet:99948"}
xref: MESH:C535419 {source="MONDO:equivalentTo", source="ORDO:99948/e", source="Orphanet:99948", source="MONDO:ontobio"}
xref: OMIM:214400 {source="MONDO:equivalentTo", source="ORDO:99948/e", source="DOID:0110185", source="Orphanet:99948"}
xref: Orphanet:99948 {source="MONDO:equivalentTo", source="OMIM:214400", source="DOID:0110185"}
xref: SCTID:715796006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1859198 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214400", source="ORDO:99948/e", source="Orphanet:99948"}
is_a: MONDO:0012014 ! Charcot-Marie-Tooth disease recessive intermediate a
is_a: MONDO:0018995 {source="DOID:0110185", source="MONDO:Redundant", source="Orphanet:99948", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110185
property_value: exactMatch http://identifiers.org/mesh/C535419
property_value: exactMatch http://identifiers.org/omim/214400
property_value: exactMatch http://identifiers.org/snomedct/715796006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859198
property_value: exactMatch Orphanet:99948
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a xsd:anyURI {source="GARD:0001252"}

[Term]
id: MONDO:0008962
name: Griscelli syndrome type 1
def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2." [DOID:0060832, PMID:12452176, PMID:9207796]
subset: gard_rare {source="GARD:0002566"}
subset: ordo_clinical_subtype {source="Orphanet:79476"}
synonym: "Griscelli disease type 1" RELATED [Orphanet:79476]
synonym: "Griscelli syndrome with neurologic impairment" RELATED [OMIM:214450]
synonym: "Griscelli syndrome with neurological impairment" EXACT [DOID:0060832]
synonym: "Griscelli syndrome, cutaneous and neurologic type" RELATED [OMIM:214450]
synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [DOID:0060832]
synonym: "Griscelli syndrome, type 1" RELATED [MONDO:Lexical, OMIM:214450]
synonym: "Griscelli syndrome, type 1; GS1" RELATED [OMIM:214450]
synonym: "Griscelli-PruniC)ras syndrome type 1" EXACT [Orphanet:79476]
synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [DOID:0060832]
synonym: "GS1" EXACT [DOID:0060832, MONDO:Lexical, OMIM:214450]
synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [DOID:0060832, Orphanet:79476]
synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [OMIM:214450]
synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566]
xref: DOID:0060832 {source="MONDO:equivalentTo"}
xref: GARD:0002566 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="ORDO:79476/attributed", source="ORDO:79476/ntbt", source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476"}
xref: MESH:C537301 {source="MONDO:equivalentTo", source="DOID:0060832", source="MONDO:ontobio", source="ORDO:79476/e", source="Orphanet:79476"}
xref: OMIM:214450 {source="MONDO:equivalentTo", source="DOID:0060832", source="ORDO:79476/e", source="Orphanet:79476"}
xref: Orphanet:79476 {source="OMIM:214450", source="MONDO:equivalentTo", source="DOID:0060832"}
xref: UMLS:C1859194 {source="OMIM:214450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060832", source="MEDGEN:kboom-pr92-c96", source="ORDO:79476/e", source="Orphanet:79476"}
is_a: MONDO:0015144 {source="Orphanet:79476"} ! brain inflammatory disease
is_a: MONDO:0018306 {source="DC-OMIM:214450", source="DOID:0060832", source="MONDO:Redundant", source="OMIM:214450", source="Orphanet:79476"} ! Griscelli syndrome
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0060832
property_value: exactMatch http://identifiers.org/mesh/C537301
property_value: exactMatch http://identifiers.org/omim/214450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859194
property_value: exactMatch Orphanet:79476
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 xsd:anyURI {source="GARD:0002566"}

[Term]
id: MONDO:0008963
name: Chediak-Higashi syndrome
def: "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." [Orphanet:167]
subset: gard_rare {source="GARD:0006035"}
subset: ordo_disease {source="Orphanet:167"}
synonym: "ChC)diak-Higashi disease" EXACT [Orphanet:167]
synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167]
synonym: "Chediak - Steinbrinck anomaly" EXACT [DOID:2935]
synonym: "Chediak Higashi syndrome" RELATED [GARD:0006035]
synonym: "Chediak-Higashi syndrome" EXACT [MONDO:Lexical, OMIM:214500]
synonym: "Chediak-Higashi syndrome; CHS" RELATED [OMIM:214500]
synonym: "CHS" EXACT [DOID:2935, MONDO:Lexical, OMIM:214500]
synonym: "Chédiak-Higashi disease" EXACT [Orphanet:167]
synonym: "Chédiak-Higashi syndrome" RELATED [Orphanet:167]
synonym: "Chédiak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167]
xref: DOID:2935 {source="MONDO:equivalentTo"}
xref: GARD:0006035 {source="MONDO:equivalentTo"}
xref: ICD10:D72.0 {source="DOID:2935"}
xref: ICD10:E70.3 {source="ORDO:167/ntbt", source="MONDO:relatedTo", source="ORDO:167/inclusion", source="Orphanet:167"}
xref: ICD10:E70.330 {source="MONDO:equivalentTo", source="DOID:2935"}
xref: MedDRA:10008415 {source="ORDO:167/e", source="Orphanet:167"}
xref: MESH:D002609 {source="MONDO:equivalentTo", source="ORDO:167/e", source="MONDO:ontobio", source="DOID:2935", source="Orphanet:167"}
xref: NCIT:C2941 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2935"}
xref: OMIM:214500 {source="MONDO:equivalentTo", source="ORDO:167/e", source="DOID:2935", source="Orphanet:167"}
xref: Orphanet:167 {source="MONDO:equivalentTo", source="OMIM:214500", source="DOID:2935"}
xref: SCTID:111396008 {source="MONDO:kboom-pr-1.00/0.78/6.97", source="MONDO:equivalentTo", source="DOID:2935"}
xref: UMLS:C0007965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214500", source="ORDO:167/e", source="DOID:2935", source="NCIT:C2941", source="Orphanet:167"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016132 {source="Orphanet:167"} ! rare hereditary disease with peripheral neuropathy
is_a: MONDO:0017305 {source="Orphanet:167"} ! syndromic oculocutaneous albinism
is_a: MONDO:0017739 {source="Orphanet:167"} ! disorder of lysosomal-related organelles
is_a: MONDO:0018032 {source="Orphanet:167"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0018042 {source="Orphanet:167"} ! immunodeficiency syndrome with abnormal pigmentation
is_a: MONDO:0019305 {source="Orphanet:167"} ! immune deficiency with skin involvement
is_a: MONDO:0020118 {source="Orphanet:167"} ! dense granule disease
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:167", source="indirect"} ! inherited neurodegenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/123309000
property_value: closeMatch http://identifiers.org/snomedct/190696004
property_value: closeMatch http://identifiers.org/snomedct/191356000
property_value: exactMatch DOID:2935
property_value: exactMatch http://identifiers.org/meddra/10008415
property_value: exactMatch http://identifiers.org/mesh/D002609
property_value: exactMatch http://identifiers.org/omim/214500
property_value: exactMatch http://identifiers.org/snomedct/111396008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007965
property_value: exactMatch NCIT:C2941
property_value: exactMatch Orphanet:167
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome xsd:anyURI {source="GARD:0006035"}

[Term]
id: MONDO:0008964
name: congenital secretory chloride diarrhea 1
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:53689"}
synonym: "chloride diarrhea, congenital, Finnish type" RELATED [OMIM:214700]
synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700]
synonym: "CLD" RELATED [GARD:0010001]
synonym: "congenital chloride diarrhea" RELATED [Orphanet:53689]
synonym: "congenital chloride diarrhea Finnish type" EXACT [DOID:0060296]
synonym: "congenital chloridorrhea" EXACT [DOID:0060296, https://en.wikipedia.org/wiki/Congenital_chloride_diarrhea]
synonym: "congenital secretory chloride diarrhea type 1" EXACT [DOID:0060296, MONDORULE:1]
synonym: "Darrow-gamble disease" RELATED [GARD:0010001]
synonym: "DIAR1" RELATED [MONDO:Lexical, OMIM:214700]
synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700]
synonym: "diarrhea 1, secretory chloride, congenital; DIAR1" RELATED [OMIM:214700]
synonym: "familial chloride diarrhea" RELATED [GARD:0010001]
synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_pattern]
synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060296 {source="MONDO:equivalentTo"}
xref: GARD:0010001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:P78.3 {source="Orphanet:53689", source="ORDO:53689/attributed", source="ORDO:53689/ntbt"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536210 {source="DOID:0060296", source="ORDO:53689/e", source="Orphanet:53689", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:214700 {source="DOID:0060296", source="ORDO:53689/e", source="Orphanet:53689", source="MONDO:equivalentTo"}
xref: Orphanet:53689 {source="DOID:0060296", source="MONDO:equivalentTo", source="OMIM:214700"}
xref: SCTID:24412005 {source="DOID:0060296", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
is_a: MONDO:0015178 {source="Orphanet:53689"} ! congenital intestinal transport defect
is_a: MONDO:0045032 ! congenital secretory diarrhea
property_value: exactMatch DOID:0060296
property_value: exactMatch http://identifiers.org/mesh/C536210
property_value: exactMatch http://identifiers.org/omim/214700
property_value: exactMatch http://identifiers.org/snomedct/24412005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267662
property_value: exactMatch Orphanet:53689

[Term]
id: MONDO:0008965
name: CHARGE syndrome
def: "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." [Orphanet:138]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:138"}
synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, Orphanet:138]
synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [OMIM:214800]
synonym: "CHARGE syndrome" EXACT [OMIM:214800]
synonym: "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" RELATED [GARD:0000029]
synonym: "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" EXACT [NCIT:C75100]
synonym: "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" EXACT [NCIT:C75100]
synonym: "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" EXACT [Orphanet:138]
synonym: "Hall-Hittner syndrome" EXACT [GARD:0000029, OMIM:214800, Orphanet:138]
xref: DOID:0050834 {source="MONDO:equivalentTo"}
xref: GARD:0000029 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:138", source="ORDO:138/attributed", source="ORDO:138/ntbt"}
xref: ICD10:Q89.8 {source="DOID:0050834"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064063 {source="Orphanet:138", source="ORDO:138/e"}
xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="MONDO:ontobio", source="ORDO:138/e"}
xref: NCIT:C75100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050834"}
xref: OMIM:214800 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="ORDO:138/e"}
xref: Orphanet:138 {source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="OMIM:214800"}
xref: SCTID:47535005 {source="MONDO:kboom-pr-1.00/0.76/6.61", source="MONDO:equivalentTo", source="DOID:0050834"}
xref: UMLS:C0265354 {source="Orphanet:138", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050834", source="NCIT:C75100", source="GARD:0000029", source="OMIM:214800", source="ORDO:138/e"}
is_a: MONDO:0015218 {source="Orphanet:138"} ! syndromic developmental defect of the eye
is_a: MONDO:0015501 {source="Orphanet:138"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015506 {source="Orphanet:138"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015620 {source="Orphanet:138"} ! syndromic urogenital tract malformation
is_a: MONDO:0015890 {source="Orphanet:138"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0018036 {source="Orphanet:138"} ! immunodeficiency due to absence of thymus
is_a: MONDO:0018398 {source="Orphanet:138"} ! female infertility due to a congenital hypogonadotropic hypogonadism
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:138"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:138"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020237 {source="Orphanet:138"} ! lens shape anomaly
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:138"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/snomedct/394529000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936502
property_value: exactMatch DOID:0050834
property_value: exactMatch http://identifiers.org/meddra/10064063
property_value: exactMatch http://identifiers.org/mesh/D058747
property_value: exactMatch http://identifiers.org/omim/214800
property_value: exactMatch http://identifiers.org/snomedct/47535005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265354
property_value: exactMatch NCIT:C75100
property_value: exactMatch Orphanet:138

[Term]
id: MONDO:0008966
name: Aagenaes syndrome
def: "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." [Orphanet:1414]
subset: gard_rare {source="GARD:0000370"}
subset: ordo_disease {source="Orphanet:1414"}
synonym: "Aagenaes syndrome" EXACT [OMIM:214900, Orphanet:1414]
synonym: "Chls" RELATED [OMIM:214900]
synonym: "cholestasis lymphedema syndrome" RELATED [GARD:0000370]
synonym: "cholestasis-edema syndrome, Norwegian type" EXACT [DOID:6691]
synonym: "cholestasis-lymphedema syndrome" RELATED [OMIM:214900]
synonym: "LCS" RELATED [GARD:0000370]
synonym: "LCS1" RELATED [GARD:0000370]
synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370]
synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900]
xref: DOID:6691 {source="MONDO:equivalentTo"}
xref: GARD:0000370 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.0 {source="MONDO:relatedTo", source="ORDO:1414/attributed", source="ORDO:1414/ntbt", source="Orphanet:1414"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535330 {source="MONDO:equivalentTo", source="DOID:6691", source="MONDO:ontobio"}
xref: NCIT:C35709 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:6691"}
xref: OMIM:214900 {source="MONDO:equivalentTo", source="ORDO:1414/e", source="Orphanet:1414", source="DOID:6691"}
xref: Orphanet:1414 {source="MONDO:equivalentTo", source="DOID:6691", source="OMIM:214900"}
xref: SCTID:28724005 {source="MONDO:equivalentTo", source="DOID:6691", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268314 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="NCIT:C35709", source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="OMIM:214900"}
is_a: MONDO:0005154 {source="Orphanet:1414", source="Orphanet:1414/inferred"} ! liver disease
is_a: MONDO:0018722 {source="Orphanet:1414"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1414"} ! syndromic lymphedema
relationship: has_modifier MONDO:0021136 {source="MONDO:0015507"} ! rare
property_value: exactMatch DOID:6691
property_value: exactMatch http://identifiers.org/mesh/C535330
property_value: exactMatch http://identifiers.org/omim/214900
property_value: exactMatch http://identifiers.org/snomedct/28724005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268314
property_value: exactMatch NCIT:C35709
property_value: exactMatch Orphanet:1414
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome xsd:anyURI {source="GARD:0000370"}

[Term]
id: MONDO:0008967
name: congenital bile acid synthesis defect 4
def: "Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." [Orphanet:79095]
subset: gard_rare {source="GARD:0010046"}
subset: ordo_disease {source="Orphanet:79095"}
synonym: "2-methylacyl-CoA racemase deficiency" EXACT [Orphanet:79095]
synonym: "Alpha-methyl-acyl-CoA racemase deficiency" EXACT [Orphanet:79095]
synonym: "AMACR deficiency" EXACT [Orphanet:79095]
synonym: "BASD4" EXACT [Orphanet:79095]
synonym: "bile acid synthesis defect, congenital, 4" RELATED [MONDO:Lexical, OMIM:214950]
synonym: "bile acid synthesis defect, congenital, 4; CBAS4" RELATED [OMIM:214950]
synonym: "bile acid synthesis defect, congenital, type 4" EXACT [MONDORULE:1, OMIM:214950]
synonym: "CBAS4" EXACT [DOID:0111068, MONDO:Lexical, OMIM:214950]
synonym: "cholestasis, intrahepatic, with defective conversion of" RELATED [GARD:0010046]
synonym: "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" RELATED [OMIM:214950]
synonym: "congenital bile acid synthesis defect type 4" EXACT [DOID:0111068, MONDORULE:1]
synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [DOID:0111068]
synonym: "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome" EXACT [Orphanet:79095]
synonym: "Trihydroxycoprostanic acid in bile" RELATED [OMIM:214950]
synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068]
synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046]
xref: DOID:0111068 {source="MONDO:equivalentTo"}
xref: GARD:0010046 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="Orphanet:79095", source="ORDO:79095/attributed", source="ORDO:79095/ntbt", source="DOID:0111068"}
xref: MESH:C535444 {source="ORDO:79095/e", source="MONDO:equivalentTo", source="Orphanet:79095", source="MONDO:ontobio", source="DOID:0111068"}
xref: OMIM:214950 {source="ORDO:79095/e", source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068"}
xref: Orphanet:79095 {source="MONDO:equivalentTo", source="OMIM:214950", source="DOID:0111068"}
is_a: MONDO:0013681 {source="https://github.com/monarch-initiative/mondo/issues/1196"} ! alpha-methylacyl-CoA racemase deficiency
is_a: MONDO:0018841 {source="DC-OMIM:214950", source="DOID:0111068", source="OMIM:214950", source="Orphanet:79095"} ! congenital bile acid synthesis defect
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0111068
property_value: exactMatch http://identifiers.org/mesh/C535444
property_value: exactMatch http://identifiers.org/omim/214950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858328
property_value: exactMatch Orphanet:79095
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 xsd:anyURI {source="GARD:0010046"}

[Term]
id: MONDO:0008968
name: cholestasis with gallstone, ataxia, and visual disturbance
synonym: "cholestasis with gallstone, ataxia, and visual disturbance" EXACT [OMIM:214980]
xref: MESH:C565856 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:214980 {source="MONDO:equivalentTo"}
xref: UMLS:C1859161 {source="OMIM:214980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565856/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565856
property_value: exactMatch http://identifiers.org/omim/214980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859161

[Term]
id: MONDO:0008969
name: cholesterol pneumonia
subset: gard_rare {source="GARD:0008500"}
synonym: "cholesterol pneumonia" EXACT [OMIM:215030]
synonym: "familiaere cholesterin-Pneumonie" RELATED [GARD:0008500]
xref: GARD:0008500 {source="MONDO:equivalentTo"}
xref: ICD9:516.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535937 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215030 {source="MONDO:equivalentTo"}
xref: SCTID:233728004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.70"}
xref: UMLS:C0549472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:215030"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535937
property_value: exactMatch http://identifiers.org/omim/215030
property_value: exactMatch http://identifiers.org/snomedct/233728004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549472
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia xsd:anyURI {source="GARD:0008500"}

[Term]
id: MONDO:0008970
name: chondrodysplasia Blomstrand type
def: "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." [Orphanet:50945]
subset: gard_rare {source="GARD:0000914"}
subset: ordo_malformation_syndrome {source="Orphanet:50945"}
synonym: "BLC" EXACT [Orphanet:50945]
synonym: "Blomstrand chondrodysplasia" EXACT [Orphanet:50945]
synonym: "Blomstrand lethal chondrodysplasia" EXACT [DOID:0060387]
synonym: "Blomstrand lethal osteochondrodysplasia" RELATED [GARD:0000914]
synonym: "Blomstrand osteochondrodysplasia" EXACT [Orphanet:50945]
synonym: "Blomstrand type chondrodysplasia" EXACT [NCIT:C131420]
synonym: "Blomstrand's lethal chondrodysplasia" RELATED [GARD:0000914]
synonym: "BOCD" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945]
synonym: "chondrodysplasia, Blomstrand type" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945]
synonym: "chondrodysplasia, Blomstrand type; BOCD" RELATED [OMIM:215045]
xref: DOID:0060387 {source="MONDO:equivalentTo"}
xref: GARD:0000914 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:50945/attributed", source="ORDO:50945/ntbt", source="Orphanet:50945"}
xref: MESH:C537914 {source="DOID:0060387", source="MONDO:equivalentTo", source="ORDO:50945/e", source="Orphanet:50945", source="MONDO:ontobio"}
xref: NCIT:C131420 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: OMIM:215045 {source="DOID:0060387", source="MONDO:equivalentTo", source="ORDO:50945/e", source="Orphanet:50945"}
xref: Orphanet:50945 {source="DOID:0060387", source="OMIM:215045", source="MONDO:equivalentTo"}
xref: UMLS:C1859148 {source="DOID:0060387", source="OMIM:215045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:50945/e", source="NCIT:C131420", source="Orphanet:50945"}
is_a: MONDO:0019702 {source="Orphanet:50945"} ! neonatal osteosclerotic dysplasia
property_value: exactMatch DOID:0060387
property_value: exactMatch http://identifiers.org/mesh/C537914
property_value: exactMatch http://identifiers.org/omim/215045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859148
property_value: exactMatch NCIT:C131420
property_value: exactMatch Orphanet:50945
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type xsd:anyURI {source="GARD:0000914"}

[Term]
id: MONDO:0008971
name: chondrodysplasia calcificans Metaphysealis
subset: gard_rare {source="GARD:0010613"}
synonym: "chondrodysplasia calcificans Metaphysealis" EXACT [OMIM:215050]
xref: GARD:0010613 {source="MONDO:equivalentTo"}
xref: MESH:C565855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:215050"}
is_a: MONDO:0009943 ! Pyle disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C565855
property_value: exactMatch http://identifiers.org/omim/215050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859147
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis xsd:anyURI {source="GARD:0010613"}

[Term]
id: MONDO:0008972
name: rhizomelic chondrodysplasia punctata type 1
def: "Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities , distinctive facial features, intellectual disability , and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." [https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1]
subset: gard_rare {source="GARD:0006049"}
subset: ordo_etiological_subtype {source="Orphanet:309789"}
synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100]
synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100]
synonym: "Pbd9" EXACT [DOID:0110851]
synonym: "peroxisome biogenesis disorder 9" EXACT [DOID:0110851, OMIM:215100]
synonym: "PEX7 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCDP1" RELATED [MONDO:Lexical, OMIM:215100]
synonym: "Rcdp1" EXACT [DOID:0110851]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata, type 1" RELATED [MONDO:Lexical, OMIM:215100]
synonym: "rhizomelic chondrodysplasia punctata, type 1; RCDP1" RELATED [OMIM:215100]
xref: DOID:0110851 {source="MONDO:equivalentTo"}
xref: GARD:0006049 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="DOID:0110851", source="ORDO:309789/attributed", source="ORDO:309789/ntbt", source="Orphanet:309789"}
xref: OMIM:215100 {source="MONDO:equivalentTo", source="ORDO:309789/e", source="DOID:0110851", source="Orphanet:309789"}
xref: Orphanet:309789 {source="OMIM:215100", source="MONDO:equivalentTo", source="DOID:0110851"}
xref: UMLS:C1859133 {source="OMIM:215100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309789/e", source="Orphanet:309789"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015776 {source="DOID:0110851", source="MONDO:Redundant", source="MONDOLEX:0008972", source="OMIM:215100", source="Orphanet:309789"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0019234 {source="MONDOLEX:0008972", source="OMIM:215100"} ! peroxisome biogenesis disorder
property_value: exactMatch DOID:0110851
property_value: exactMatch http://identifiers.org/omim/215100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859133
property_value: exactMatch Orphanet:309789
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 xsd:anyURI {source="GARD:0006049"}

[Term]
id: MONDO:0008973
name: chondrodysplasia punctata, Toriello type
def: "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." [Orphanet:79347]
subset: ordo_malformation_syndrome {source="Orphanet:79347"}
synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105]
synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347]
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79347", source="ORDO:79347/attributed", source="ORDO:79347/ntbt"}
xref: MESH:C565853 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="ORDO:79347/e"}
xref: Orphanet:79347 {source="MONDO:equivalentTo", source="OMIM:215105"}
xref: SCTID:715631005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0015775 {source="Orphanet:79347"} ! non-rhizomelic chondrodysplasia punctata
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859132
property_value: exactMatch http://identifiers.org/mesh/C565853
property_value: exactMatch http://identifiers.org/omim/215105
property_value: exactMatch http://identifiers.org/snomedct/715631005
property_value: exactMatch Orphanet:79347

[Term]
id: MONDO:0008974
name: Greenberg dysplasia
def: "lethality and affected fetuses are considered as nonviable." [Orphanet:1426]
subset: gard_rare {source="GARD:0008754"}
subset: ordo_disease {source="Orphanet:1426"}
synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" RELATED [GARD:0008754]
synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [OMIM:215140]
synonym: "GRBGD" RELATED [MONDO:Lexical, OMIM:215140]
synonym: "Greenberg dysplasia" EXACT [MONDO:Lexical, OMIM:215140]
synonym: "Greenberg dysplasia; GRBGD" RELATED [OMIM:215140]
synonym: "Greenberg skeletal dysplasia" RELATED [GARD:0008754]
synonym: "hem" RELATED [GARD:0008754]
synonym: "hem dysplasia" EXACT [Orphanet:1426]
synonym: "hem skeletal dysplasia" RELATED [OMIM:215140]
synonym: "hem/Greenberg dysplasia" RELATED [GARD:0008754]
synonym: "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" RELATED [GARD:0008754]
synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" RELATED [OMIM:215140]
synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [Orphanet:1426]
synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140]
synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426]
xref: GARD:0008754 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:1426/attributed", source="ORDO:1426/ntbt", source="Orphanet:1426"}
xref: MESH:C535858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="ORDO:1426/e"}
xref: Orphanet:1426 {source="MONDO:equivalentTo", source="OMIM:215140"}
xref: SCTID:389261002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2931048 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1426", source="OMIM:215140"}
xref: UMLS:CN199524 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019240 {source="Orphanet:1426"} ! sterol biosynthesis disorder
is_a: MONDO:0019701 {source="Orphanet:1426"} ! chondrodysplasia punctata
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C535858
property_value: exactMatch http://identifiers.org/mesh/C537299
property_value: exactMatch http://identifiers.org/omim/215140
property_value: exactMatch http://identifiers.org/snomedct/389261002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300226
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199524
property_value: exactMatch Orphanet:1426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia xsd:anyURI {source="GARD:0008754"}

[Term]
id: MONDO:0008975
name: otospondylomegaepiphyseal dysplasia
def: "Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." [Orphanet:1427]
subset: ordo_disease {source="Orphanet:1427"}
synonym: "chondrodystrophy with sensorineural deafness" EXACT [DOID:0080026]
synonym: "Insley-Astley syndrome" RELATED [GARD:0004130]
synonym: "Nance Sweeney chondrodysplasia" RELATED [GARD:0004130]
synonym: "Nance-Insley syndrome" EXACT [DOID:0080026]
synonym: "Nance-Sweeney chondrodysplasia" EXACT [DOID:0080026]
synonym: "OSMED" EXACT [MONDO:Lexical, OMIM:215150, Orphanet:1427]
synonym: "OSMED syndrome" RELATED [GARD:0004130]
synonym: "oto-spondylo-mega-epiphyseal dysplasia" RELATED [GARD:0004130]
synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840]
synonym: "otospondylomegaepiphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:215150]
synonym: "otospondylomegaepiphyseal dysplasia; OSMED" RELATED [OMIM:215150]
xref: DOID:0080026 {source="MONDO:equivalentTo"}
xref: GARD:0004130 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:1427/attributed", source="ORDO:1427/ntbt", source="Orphanet:1427"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:184840 {source="MONDO:equivalentTo"}
xref: Orphanet:1427 {source="MONDO:equivalentTo", source="OMIM:215150"}
xref: SCTID:254060000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016761 {source="Orphanet:1427"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:1427"} ! type 2 collagen-related bone disorder
is_a: MONDO:0019687 {source="Orphanet:1427"} ! type 11 collagen-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432210
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855310
property_value: exactMatch DOID:0080026
property_value: exactMatch http://identifiers.org/snomedct/254060000
property_value: exactMatch Orphanet:1427

[Term]
id: MONDO:0008976
name: chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
synonym: "chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome" EXACT [OMIM:215250]
xref: MESH:C565852 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215250 {source="MONDO:equivalentTo"}
xref: UMLS:C1859104 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:215250"}
is_a: MONDO:0003847 {source="MESH:C565852/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565852
property_value: exactMatch http://identifiers.org/omim/215250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859104

[Term]
id: MONDO:0008977
name: chondrosarcoma (disease)
def: "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." [NCIT:C2946]
subset: ordo_disease {source="Orphanet:55880"}
synonym: "chondrosarcoma" EXACT [MONDO:ambiguous, NCIT:C2946, OMIM:215300]
synonym: "chondrosarcoma of bone" NARROW [DOID:3371]
synonym: "chondrosarcoma, malignant" EXACT [NCIT:C2946]
synonym: "primary chondrosarcoma of the bone" RELATED [DOID:3371]
xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"}
xref: EFO:0000333 {source="MONDO:equivalentTo"}
xref: GARD:0006055 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0006765 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="ORDO:55880/ntbt", source="Orphanet:55880"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9220/3 {source="NCIT:C2946"}
xref: MedDRA:10008734 {source="ORDO:55880/e", source="Orphanet:55880"}
xref: MESH:D002813 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="MONDO:ontobio", source="DOID:3371", source="Orphanet:55880"}
xref: NCIT:C2946 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"}
xref: OMIM:215300 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"}
xref: ONCOTREE:CHS {source="MONDO:equivalentTo"}
xref: Orphanet:55880 {source="OMIM:215300", source="MONDO:equivalentTo"}
xref: SCTID:443520009 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"}
xref: UMLS:C0008479 {source="NCIT:C2946", source="NCBI:mim2gene_medline", source="OMIM:215300", source="MONDO:equivalentTo", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"}
is_a: MONDO:0002176 {source="DOID:3371", source="MONDO:Redundant"} ! connective tissue cancer
is_a: MONDO:0005089 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Redundant", source="NCIT:C2946", source="linkedlifedata"} ! sarcoma
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:55880"} ! bone sarcoma
property_value: closeMatch http://identifiers.org/snomedct/14990007
property_value: closeMatch http://identifiers.org/snomedct/189886003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335473
property_value: exactMatch DOID:3371
property_value: exactMatch http://identifiers.org/meddra/10008734
property_value: exactMatch http://identifiers.org/mesh/D002813
property_value: exactMatch http://identifiers.org/omim/215300
property_value: exactMatch http://identifiers.org/snomedct/443520009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008479
property_value: exactMatch NCIT:C2946
property_value: exactMatch Orphanet:55880

[Term]
id: MONDO:0008978
name: chordoma (disease)
def: "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." [Orphanet:178]
subset: ordo_disease {source="Orphanet:178"}
synonym: "CHDM" RELATED [MONDO:Lexical, OMIM:215400]
synonym: "chordoma" EXACT [MONDO:ambiguous, NCIT:C2947]
synonym: "chordoma, malignant" EXACT [NCIT:C2947]
synonym: "chordoma, susceptibility to" RELATED [MONDO:Lexical, OMIM:215400]
synonym: "chordoma, susceptibility to; CHDM" RELATED [OMIM:215400]
synonym: "notochordal sarcoma" EXACT [Orphanet:178]
synonym: "notochordoma" EXACT [CSP2005:2000-4323, DOID:3302]
synonym: "susceptibility to chordoma" RELATED [OMIM:215400]
xref: DOID:3302 {source="MONDO:equivalentTo"}
xref: GARD:0001303 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0010762 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C76.7 {source="ORDO:178/attributed", source="ORDO:178/ntbt", source="Orphanet:178"}
xref: ICDO:9370/3 {source="NCIT:C2947"}
xref: MedDRA:10008747 {source="ORDO:178/e", source="Orphanet:178"}
xref: MESH:D002817 {source="DOID:3302", source="MONDO:equivalentTo", source="ORDO:178/e", source="MONDO:ontobio", source="Orphanet:178"}
xref: NCIT:C2947 {source="DOID:3302", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:215400 {source="DOID:3302", source="MONDO:equivalentTo", source="ORDO:178/e", source="Orphanet:178"}
xref: ONCOTREE:CHDM {source="MONDO:equivalentTo"}
xref: Orphanet:178 {source="OMIM:215400", source="MONDO:equivalentTo"}
xref: UMLS:C0008487 {source="NCIT:C2947", source="DOID:3302", source="OMIM:215400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:178/e", source="Orphanet:178"}
is_a: MONDO:0002597 {source="DOID:3302", source="NCIT:C2947"} ! notochordal tumor
relationship: excluded_subClassOf MONDO:0015959 {source="Orphanet:178"} ! obsolete inherited syndrome with bone tumors as a major feature
relationship: excluded_subClassOf MONDO:0019833 {source="Orphanet:178"} ! pituitary hormone deficiency from tumoral origin
property_value: closeMatch http://identifiers.org/snomedct/50007008
property_value: exactMatch DOID:3302
property_value: exactMatch http://identifiers.org/meddra/10008747
property_value: exactMatch http://identifiers.org/mesh/D002817
property_value: exactMatch http://identifiers.org/omim/215400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008487
property_value: exactMatch NCIT:C2947
property_value: exactMatch Orphanet:178

[Term]
id: MONDO:0008979
name: chorea, benign familial
def: "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include lowmuscle tone, involuntary movements (chorea), lung infections, andrespiratory distress. Signs and symptoms in children may include delayedmotor and walking milestones, jerky muscle movements ( myoclonus ), upper limb dystonia ,motor tics, and vocal tics. The chorea often improves with time. Insome cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Othersigns and symptoms include thyroid problems (e.g., hypothyroidism )and lung disease (e.g., recurring infections). Treatment is tailoredto each child. Tetrabenazine and levodopa have been tried in individualcases with some success. BHC is caused by mutations in the NKX2-1 gene(also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." [GARD:0001305]
subset: gard_rare
synonym: "benign hereditary chorea" RELATED [GARD:0001305]
synonym: "chorea familial benign" RELATED [GARD:0001305]
synonym: "chorea, benign familial" EXACT [OMIM:215450]
xref: GARD:0001305 {source="MONDO:equivalentTo"}
xref: MESH:C565851 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215450 {source="MONDO:equivalentTo"}
xref: UMLS:C1859098 {source="OMIM:215450", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0001305"}
is_a: MONDO:0001595 {source="MESH:C565851", source="MONDOLEX:0008979", source="ORDO:1429/btnt"} ! choreatic disease
property_value: exactMatch http://identifiers.org/mesh/C565851
property_value: exactMatch http://identifiers.org/omim/215450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859098
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea xsd:anyURI {source="GARD:0001305"}

[Term]
id: MONDO:0008980
name: ataxia-hypogonadism-choroidal dystrophy syndrome
def: "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term)." [Orphanet:1180]
subset: ordo_disease {source="Orphanet:1180"}
synonym: "ataxia - hypogonadism - choroidal dystrophy" RELATED [GARD:0000944]
synonym: "BNHS" RELATED [MONDO:Lexical, OMIM:215470]
synonym: "boucher-NEUHAUSER syndrome" RELATED [MONDO:Lexical, OMIM:215470]
synonym: "boucher-NEUHAUSER syndrome; BNHS" RELATED [OMIM:215470]
synonym: "boucher-NeuhC$user syndrome" EXACT [Orphanet:1180]
synonym: "boucher-Neuhäuser syndrome" EXACT [Orphanet:1180]
synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" RELATED [GARD:0000944]
synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" RELATED [OMIM:215470]
xref: GARD:0000944 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:1180/attributed", source="ORDO:1180/ntbt", source="Orphanet:1180"}
xref: MESH:C565850 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215470 {source="MONDO:equivalentTo", source="ORDO:1180/e", source="Orphanet:1180"}
xref: Orphanet:1180 {source="MONDO:equivalentTo", source="OMIM:215470"}
xref: SCTID:715984007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1859093 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1180", source="OMIM:215470"}
is_a: MONDO:0000557 {source="Orphanet:1180"} ! hereditary ataxia
is_a: MONDO:0015890 {source="Orphanet:1180"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C565850
property_value: exactMatch http://identifiers.org/omim/215470
property_value: exactMatch http://identifiers.org/snomedct/715984007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859093
property_value: exactMatch Orphanet:1180

[Term]
id: MONDO:0008981
name: infantile choroidocerebral calcification syndrome
def: "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." [Orphanet:1313]
subset: ordo_disease {source="Orphanet:1313"}
synonym: "choroid plexus calcification and mental retardation" RELATED [OMIM:215480]
synonym: "choroid plexus calcification with mental retardation" RELATED [GARD:0001313]
synonym: "Choroido-cerebral calcification syndrome with retardation" RELATED [GARD:0001313]
xref: GARD:0001313 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G93.8 {source="ORDO:1313/attributed", source="ORDO:1313/ntbt", source="Orphanet:1313"}
xref: MESH:C535357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215480 {source="ORDO:1313/e", source="MONDO:equivalentTo", source="Orphanet:1313"}
xref: Orphanet:1313 {source="MONDO:equivalentTo", source="OMIM:215480"}
xref: SCTID:724228005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1313", source="OMIM:215480"}
is_a: MONDO:0000508 {source="Orphanet:1313"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535357
property_value: exactMatch http://identifiers.org/omim/215480
property_value: exactMatch http://identifiers.org/snomedct/724228005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859092
property_value: exactMatch Orphanet:1313

[Term]
id: MONDO:0008982
name: central areolar choroidal dystrophy
def: "Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." [Orphanet:75377]
subset: ordo_disease {source="Orphanet:75377"}
synonym: "areolar atrophy of the macula" EXACT [Orphanet:75377]
synonym: "CACD" EXACT [Orphanet:75377]
synonym: "CACD1" RELATED [MONDO:Lexical, OMIM:215500]
synonym: "central areolar choroidal sclerosis" EXACT [Orphanet:75377]
synonym: "choroidal dystrophy" EXACT [MONDO:0000013]
synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049]
synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500]
xref: DC:0000084 {source="MONDO:equivalentTo"}
xref: GARD:0010049 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H31.2 {source="Orphanet:75377", source="ORDO:75377/inclusion", source="ORDO:75377/ntbt"}
xref: ICD9:363.54 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIMPS:215500 {source="DC:0000084", source="MONDO:equivalentTo"}
xref: Orphanet:75377 {source="MONDO:equivalentTo", source="OMIM:215500"}
xref: SCTID:231996009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:312918002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.92"}
is_a: MONDO:0001898 {source="DC:0000084", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic choroid disease
is_a: MONDO:0020243 {source="Orphanet:75377"} ! colobomatous and areolar dystrophy
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1536451
property_value: exactMatch http://identifiers.org/mesh/C535358
property_value: exactMatch http://identifiers.org/snomedct/231996009
property_value: exactMatch http://identifiers.org/snomedct/312918002
property_value: exactMatch Orphanet:75377

[Term]
id: MONDO:0008983
name: chromosomal instability with tissue-specific radiosensitivity
synonym: "chromosomal instability with tissue-specific radiosensitivity" EXACT [OMIM:215510]
xref: MESH:C565848 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215510 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859091
property_value: exactMatch http://identifiers.org/mesh/C565848
property_value: exactMatch http://identifiers.org/omim/215510

[Term]
id: MONDO:0008984
name: ciliary discoordination due to random ciliary orientation
subset: gard_rare {source="GARD:0001360"}
synonym: "ciliary discoordination due to random ciliary orientation" EXACT [OMIM:215518]
synonym: "ciliary discoordination, due to random ciliary orientation" RELATED [GARD:0001360]
synonym: "Rutland ciliary disorientation syndrome" RELATED [OMIM:215518]
xref: GARD:0001360 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215518 {source="MONDO:equivalentTo"}
xref: SCTID:233667003 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
xref: UMLS:C0340038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:215518"}
is_a: MONDO:0016575 {source="MESH:C562757"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/mesh/C562757
property_value: exactMatch http://identifiers.org/omim/215518
property_value: exactMatch http://identifiers.org/snomedct/233667003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340038
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation xsd:anyURI {source="GARD:0001360"}

[Term]
id: MONDO:0008985
name: ciliary dyskinesia with transposition of ciliary microtubules
subset: gard_rare
synonym: "ciliary dyskinesia with transposition of ciliary microtubules" EXACT [OMIM:215520]
synonym: "ciliary dyskinesia, due to transposition of ciliary microtubules" RELATED [GARD:0001361]
xref: GARD:0001361 {source="MONDO:equivalentTo"}
xref: MESH:C567137 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215520 {source="MONDO:equivalentTo"}
xref: UMLS:C2673817 {source="NCBI:mim2gene_medline", source="OMIM:215520", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="MESH:C567137"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/mesh/C567137
property_value: exactMatch http://identifiers.org/omim/215520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673817

[Term]
id: MONDO:0008986
name: circumvallate placenta syndrome
synonym: "circumvallate placenta syndrome" EXACT [OMIM:215550]
xref: MESH:C565847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215550 {source="MONDO:equivalentTo"}
xref: UMLS:C1859089 {source="OMIM:215550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565847
property_value: exactMatch http://identifiers.org/omim/215550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859089

[Term]
id: MONDO:0008987
name: obsolete cirrhosis, familial
is_obsolete: true
replaced_by: MONDO:0007329

[Term]
id: MONDO:0008988
name: citrullinemia type I
def: "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I, see this term)." [Orphanet:247525]
subset: ordo_disease {source="Orphanet:247525"}
synonym: "argininosuccinate synthase deficiency" EXACT [Orphanet:247525]
synonym: "argininosuccinate synthetase deficiency" EXACT [OMIM:215700, Orphanet:247525]
synonym: "argininosuccinic acid synthase deficiency" EXACT [Orphanet:247525]
synonym: "argininosuccinic acid synthetase deficiency" EXACT [Orphanet:247525]
synonym: "ASS deficiency" EXACT [Orphanet:247525]
synonym: "citrullinemia 1" RELATED [GARD:0006114]
synonym: "citrullinemia type 1" EXACT [Orphanet:247525]
synonym: "citrullinemia, classic" RELATED [OMIM:215700]
synonym: "citrullinemia, type 1" RELATED [OMIM:215700]
synonym: "Citrullinuria" RELATED [OMIM:215700]
synonym: "classic citrullinemia" EXACT [Orphanet:247525]
synonym: "CTLN1" EXACT [Orphanet:247525]
synonym: "CTNL1" RELATED [GARD:0006114]
xref: DOID:0070340 {source="MONDO:equivalentTo"}
xref: GARD:0006114 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E72.2 {source="Orphanet:247525", source="ORDO:247525/attributed", source="ORDO:247525/ntbt"}
xref: MedDRA:10058298 {source="Orphanet:247525", source="ORDO:247525/e"}
xref: NCIT:C150601 {source="MONDO:equivalentTo"}
xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="ORDO:247525/e", source="MONDO:equivalentTo"}
xref: Orphanet:247525 {source="MONDO:equivalentTo", source="OMIM:215700"}
xref: SCTID:398680004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.07"}
is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="Orphanet:247525"} ! citrullinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751751
property_value: exactMatch DOID:0070340
property_value: exactMatch http://identifiers.org/meddra/10058298
property_value: exactMatch http://identifiers.org/omim/215700
property_value: exactMatch http://identifiers.org/snomedct/398680004
property_value: exactMatch NCIT:C150601
property_value: exactMatch Orphanet:247525

[Term]
id: MONDO:0008989
name: citrulline transport defect
subset: gard_rare {source="GARD:0009949"}
synonym: "citrulline transport defect" EXACT [OMIM:215720]
xref: GARD:0009949 {source="MONDO:equivalentTo"}
xref: MESH:C536207 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:215720 {source="MONDO:equivalentTo"}
xref: UMLS:C1859084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:215720"}
is_a: MONDO:0003847 {source="MESH:C536207/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536207
property_value: exactMatch http://identifiers.org/omim/215720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859084
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect xsd:anyURI {source="GARD:0009949"}

[Term]
id: MONDO:0008990
name: cleft larynx, posterior
subset: gard_rare
synonym: "cleft larynx, posterior" EXACT [GARD:0004015, OMIM:215800]
synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" RELATED [GARD:0004015]
synonym: "Novak syndrome" RELATED [GARD:0004015]
synonym: "stridor, congenital" RELATED [OMIM:215800]
xref: GARD:0004015 {source="MONDO:equivalentTo"}
xref: OMIM:215800 {source="GARD:0004015", source="MONDO:equivalentTo"}
xref: Orphanet:2005 {source="GARD:0004015", source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0016060 {source="ORDO:2004/btnt"} ! laryngotracheoesophageal cleft
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0858233
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859083
property_value: exactMatch http://identifiers.org/omim/215800
property_value: exactMatch Orphanet:2005

[Term]
id: MONDO:0008991
name: Verloove Vanhorick-Brubakk syndrome
def: "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." [Orphanet:3429]
subset: gard_rare {source="GARD:0005482"}
subset: ordo_malformation_syndrome {source="Orphanet:3429"}
synonym: "cleft limb heart malformation syndrome" RELATED [GARD:0005482]
synonym: "cleft lip-limb and heart malformations syndrome" EXACT [Orphanet:3429]
synonym: "cleft-limb-heart malformation syndrome" RELATED [OMIM:215850]
synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429]
synonym: "Clh syndrome" RELATED [OMIM:215850]
synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482]
xref: GARD:0005482 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3429/attributed", source="ORDO:3429/ntbt", source="Orphanet:3429"}
xref: MESH:C536541 {source="MONDO:equivalentTo", source="ORDO:3429/e", source="MONDO:ontobio", source="Orphanet:3429"}
xref: OMIM:215850 {source="MONDO:equivalentTo", source="ORDO:3429/e", source="Orphanet:3429"}
xref: Orphanet:3429 {source="OMIM:215850", source="MONDO:equivalentTo"}
xref: SCTID:764697003 {source="MONDO:equivalentTo"}
xref: UMLS:C1859082 {source="NCBI:mim2gene_medline", source="OMIM:215850", source="MONDO:equivalentTo", source="ORDO:3429/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3429"}
is_a: MONDO:0015335 {source="Orphanet:3429"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3429"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536541
property_value: exactMatch http://identifiers.org/omim/215850
property_value: exactMatch http://identifiers.org/snomedct/764697003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859082
property_value: exactMatch Orphanet:3429
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome xsd:anyURI {source="GARD:0005482"}

[Term]
id: MONDO:0008992
name: Juberg-Hayward syndrome
def: "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." [Orphanet:2319]
subset: gard_rare {source="GARD:0003060"}
subset: ordo_malformation_syndrome {source="Orphanet:2319"}
synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [OMIM:216100]
synonym: "cleft lip/palate-abnormal thumbs-microcephaly syndrome" EXACT [Orphanet:2319]
synonym: "JHS" RELATED [GARD:0003060]
synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100]
synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319]
xref: GARD:0003060 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2319/attributed", source="ORDO:2319/ntbt", source="Orphanet:2319"}
xref: MESH:C537690 {source="MONDO:equivalentTo", source="Orphanet:2319", source="ORDO:2319/e"}
xref: OMIM:216100 {source="MONDO:equivalentTo", source="Orphanet:2319", source="ORDO:2319/e"}
xref: Orphanet:2319 {source="OMIM:216100", source="MONDO:equivalentTo"}
xref: SCTID:721874001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.89"}
xref: UMLS:C0796099 {source="OMIM:216100", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2319"}
is_a: MONDO:0015335 {source="Orphanet:2319"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2319"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537690
property_value: exactMatch http://identifiers.org/omim/216100
property_value: exactMatch http://identifiers.org/snomedct/721874001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796099
property_value: exactMatch Orphanet:2319
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome xsd:anyURI {source="GARD:0003060"}

[Term]
id: MONDO:0008993
name: cleft palate-stapes fixation-oligodontia syndrome
def: "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." [Orphanet:2010]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2010"}
synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393]
synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300]
xref: GARD:0001393 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2010/attributed", source="ORDO:2010/ntbt", source="Orphanet:2010"}
xref: MESH:C565844 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216300 {source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010", source="ORDO:2010/e"}
xref: Orphanet:2010 {source="OMIM:216300", source="MONDO:equivalentTo"}
xref: UMLS:C1859081 {source="OMIM:216300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2010"}
is_a: MONDO:0015336 {source="Orphanet:2010"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C565844
property_value: exactMatch http://identifiers.org/omim/216300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859081
property_value: exactMatch Orphanet:2010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia xsd:anyURI {source="GARD:0001393"}

[Term]
id: MONDO:0008994
name: cleidocranial dysplasia, recessive form
subset: gard_rare {source="GARD:0010623"}
synonym: "autosomal recessive form of cleidocranial dysostosis" RELATED [GARD:0010623]
synonym: "cleidocranial dysplasia recessive form" RELATED [GARD:0010623]
synonym: "cleidocranial dysplasia, recessive form" EXACT [OMIM:216330]
xref: GARD:0010623 {source="MONDO:equivalentTo"}
xref: MESH:C565843 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216330 {source="MONDO:equivalentTo"}
xref: UMLS:C1859080 {source="OMIM:216330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007340 {source="DC-OMIM:216330", source="MESH:C565843"} ! cleidocranial dysplasia
property_value: exactMatch http://identifiers.org/mesh/C565843
property_value: exactMatch http://identifiers.org/omim/216330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859080
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form xsd:anyURI {source="GARD:0010623"}

[Term]
id: MONDO:0008995
name: Yunis-Varon syndrome
def: "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles ; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects , skeletal abnormalities, developmental delay, and/or intellectual disability.Yunis-Varon syndromeis caused bychanges( mutations ) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome]
subset: gard_rare {source="GARD:0000331"}
subset: ordo_malformation_syndrome {source="Orphanet:3472"}
synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [OMIM:216340]
synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589]
synonym: "cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia" RELATED [GARD:0000331]
synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [DOID:0060589, Orphanet:3472]
synonym: "Yunis Varon syndrome" RELATED [GARD:0000331]
synonym: "Yunis-Varon syndrome" EXACT [MONDO:Lexical, OMIM:216340]
synonym: "Yunis-Varon syndrome; YVS" RELATED [OMIM:216340]
synonym: "Yunis-Varón syndrome" RELATED [GARD:0000331]
synonym: "YVS" RELATED [MONDO:Lexical, OMIM:216340]
xref: DOID:0060589 {source="MONDO:equivalentTo"}
xref: GARD:0000331 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060589", source="ORDO:3472/attributed", source="ORDO:3472/ntbt", source="Orphanet:3472"}
xref: MESH:C536719 {source="DOID:0060589", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3472/e", source="Orphanet:3472"}
xref: OMIM:216340 {source="DOID:0060589", source="MONDO:equivalentTo", source="ORDO:3472/e", source="Orphanet:3472"}
xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"}
xref: UMLS:C1857663 {source="NCBI:mim2gene_medline", source="DOID:0060589", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:3472/e", source="OMIM:216340", source="Orphanet:3472"}
is_a: MONDO:0002254 {source="DOID:0060589", source="MONDOLEX:0008995"} ! syndromic disease
is_a: MONDO:0019709 {source="Orphanet:3472"} ! cleidocranial dysplasia and isolated cranial ossification defect
property_value: exactMatch DOID:0060589
property_value: exactMatch http://identifiers.org/mesh/C536719
property_value: exactMatch http://identifiers.org/omim/216340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857663
property_value: exactMatch Orphanet:3472
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome xsd:anyURI {source="GARD:0000331"}

[Term]
id: MONDO:0008996
name: Joubert syndrome with hepatic defect
def: "Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." [Orphanet:1454]
subset: ordo_disease {source="Orphanet:1454"}
synonym: "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" RELATED [GARD:0001410]
synonym: "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" RELATED [OMIM:216360]
synonym: "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" EXACT [Orphanet:1454]
synonym: "coach syndrome" EXACT [OMIM:216360, Orphanet:1454]
synonym: "gentile syndrome" EXACT [Orphanet:1454]
synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [OMIM:216360, Orphanet:1454]
synonym: "JS-H" EXACT [Orphanet:1454]
xref: GARD:0001410 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="Orphanet:1454", source="ORDO:1454/attributed", source="ORDO:1454/ntbt"}
xref: MESH:C536430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216360 {source="ORDO:1454/e", source="Orphanet:1454", source="MONDO:equivalentTo"}
xref: Orphanet:1454 {source="MONDO:equivalentTo", source="OMIM:216360"}
xref: SCTID:721847002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1857662 {source="ORDO:1454/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:1454", source="MONDO:equivalentTo", source="OMIM:216360"}
is_a: MONDO:0015369 {source="Orphanet:1454"} ! Joubert syndrome and related disorders
is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:1454"} ! genetic parenchymatous liver disease
is_a: MONDO:0017118 {source="Orphanet:1454", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1454"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C536430
property_value: exactMatch http://identifiers.org/omim/216360
property_value: exactMatch http://identifiers.org/snomedct/721847002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857662
property_value: exactMatch Orphanet:1454

[Term]
id: MONDO:0008997
name: obsolete Cockayne syndrome A
is_obsolete: true
replaced_by: MONDO:0019569

[Term]
id: MONDO:0008998
name: Cockayne syndrome type 3
def: "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." [http://www.diseaseinfosearch.org/Cockayne+Syndrome+Type+III/1704]
comment: Editor note: consider obsoletion. obsolete in OMIM. No info in GHR
subset: ordo_clinical_subtype {source="Orphanet:90324"}
synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417]
synonym: "Cockayne syndrome type C" RELATED [GARD:0001417]
synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324]
synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411]
xref: GARD:0001417 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:90324/attributed", source="ORDO:90324/ntbt", source="Orphanet:90324"}
xref: Orphanet:90324 {source="OMIM:216411", source="MONDO:equivalentTo", source="GARD:0001417"}
is_a: MONDO:0016006 {source="DC-OMIM:216411", source="Orphanet:90324"} ! Cockayne syndrome
property_value: broadMatch http://identifiers.org/omim/216411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751037
property_value: exactMatch Orphanet:90324
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii xsd:anyURI {source="GARD:0001417"}

[Term]
id: MONDO:0008999
name: Cohen syndrome
def: "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." [Orphanet:193]
subset: clingen
subset: gard_rare {source="GARD:0006126"}
subset: ordo_malformation_syndrome {source="Orphanet:193"}
synonym: "Chs1" RELATED [OMIM:216550]
synonym: "Chs1, formerly" RELATED [OMIM:216550]
synonym: "Coh" RELATED [OMIM:216550]
synonym: "COH1" RELATED [MONDO:Lexical, OMIM:216550]
synonym: "Cohen syndrome" EXACT [MONDO:Lexical, OMIM:216550]
synonym: "Cohen syndrome; COH1" RELATED [OMIM:216550]
synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness" EXACT [OMIM:216550]
synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550]
synonym: "pepper syndrome" RELATED [OMIM:216550]
xref: GARD:0006126 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:193/attributed", source="ORDO:193/ntbt", source="Orphanet:193"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049066 {source="ORDO:193/e", source="Orphanet:193"}
xref: MESH:C536438 {source="ORDO:193/e", source="MONDO:equivalentTo", source="Orphanet:193"}
xref: OMIM:216550 {source="ORDO:193/e", source="MONDO:equivalentTo", source="Orphanet:193"}
xref: Orphanet:193 {source="OMIM:216550", source="MONDO:equivalentTo"}
xref: SCTID:56604005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1854061 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:193", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:193"} ! syndromic genetic obesity
is_a: MONDO:0018032 {source="Orphanet:193"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0020208 {source="Orphanet:193"} ! syndromic myopia
is_a: MONDO:0020240 {source="Orphanet:193"} ! syndromic retinitis pigmentosa
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/meddra/10049066
property_value: exactMatch http://identifiers.org/mesh/C536438
property_value: exactMatch http://identifiers.org/omim/216550
property_value: exactMatch http://identifiers.org/snomedct/56604005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854061
property_value: exactMatch Orphanet:193
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome xsd:anyURI {source="GARD:0006126"}

[Term]
id: MONDO:0009000
name: familial reactive perforating collagenosis
def: "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." [Orphanet:79147]
subset: gard_rare {source="GARD:0013331"}
subset: ordo_disease {source="Orphanet:79147"}
synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, OMIM:216700]
synonym: "collagenosis, familial reactive perforating; RPC" RELATED [OMIM:216700]
synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331]
synonym: "RPC" RELATED [MONDO:Lexical, OMIM:216700]
xref: GARD:0013331 {source="MONDO:equivalentTo"}
xref: ICD10:L87.1 {source="ORDO:79147/attributed", source="ORDO:79147/ntbt", source="Orphanet:79147"}
xref: MESH:C565687 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216700 {source="MONDO:equivalentTo", source="ORDO:79147/e", source="Orphanet:79147"}
xref: Orphanet:79147 {source="MONDO:equivalentTo", source="OMIM:216700"}
xref: UMLS:C1857624 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216700", source="Orphanet:79147"}
is_a: MONDO:0019292 {source="Orphanet:79147", source="Orphanet:79147/inferred"} ! dermis elastic tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C565687
property_value: exactMatch http://identifiers.org/omim/216700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857624
property_value: exactMatch Orphanet:79147
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis xsd:anyURI {source="GARD:0013331"}

[Term]
id: MONDO:0009001
name: macular coloboma-cleft palate-hallux valgus syndrome
def: "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." [Orphanet:91494]
subset: ordo_malformation_syndrome {source="Orphanet:91494"}
synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800]
xref: ICD10:Q87.8 {source="Orphanet:91494", source="ORDO:91494/attributed", source="ORDO:91494/ntbt"}
xref: MESH:C565686 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216800 {source="ORDO:91494/e", source="Orphanet:91494", source="MONDO:equivalentTo"}
xref: Orphanet:91494 {source="MONDO:equivalentTo", source="OMIM:216800"}
xref: SCTID:722463001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C1857619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216800"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:91494"} ! syndromic developmental defect of the eye
is_a: MONDO:0015335 {source="Orphanet:91494"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020243 {source="Orphanet:91494"} ! colobomatous and areolar dystrophy
property_value: exactMatch http://identifiers.org/mesh/C565686
property_value: exactMatch http://identifiers.org/omim/216800
property_value: exactMatch http://identifiers.org/snomedct/722463001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857619
property_value: exactMatch Orphanet:91494

[Term]
id: MONDO:0009002
name: coloboma, ocular, autosomal recessive
synonym: "coloboma, ocular, autosomal recessive" EXACT [OMIM:216820]
xref: OMIM:216820 {source="MONDO:equivalentTo"}
xref: UMLS:C4011974 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016023 {source="ORDO:194/btnt"} ! ocular coloboma
property_value: exactMatch http://identifiers.org/omim/216820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011974

[Term]
id: MONDO:0009003
name: achromatopsia 2
def: "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity , involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes ( mutations ) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." [https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2]
subset: gard_rare {source="GARD:0009649"}
synonym: "ACHM2" EXACT [DOID:0110007, MONDO:Lexical, OMIM:216900]
synonym: "achromatopsia 2" EXACT [MONDO:Lexical, OMIM:216900]
synonym: "achromatopsia 2; ACHM2" RELATED [OMIM:216900]
synonym: "achromatopsia caused by mutation in CNGA3" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 2" EXACT [DOID:0110007, MONDORULE:1, OMIM:216900]
synonym: "CNGA3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "colorblindness, total" RELATED [OMIM:216900]
synonym: "RMCH2" EXACT [DOID:0110007]
synonym: "Rod monochromacy 2" RELATED [OMIM:216900]
synonym: "rod monochromacy 2" EXACT [DOID:0110007]
synonym: "Rod monochromatism 2" RELATED [OMIM:216900]
synonym: "rod monochromatism 2" EXACT [DOID:0110007]
xref: DOID:0110007 {source="MONDO:equivalentTo"}
xref: GARD:0009649 {source="MONDO:equivalentTo"}
xref: OMIM:216900 {source="DOID:0110007", source="MONDO:equivalentTo"}
xref: UMLS:C1857618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216900"}
is_a: MONDO:0018852 {source="DC-OMIM:216900", source="DOID:0110007", source="MONDO:Redundant", source="MONDOLEX:0009003"} ! achromatopsia
property_value: exactMatch DOID:0110007
property_value: exactMatch http://identifiers.org/omim/216900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857618
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 xsd:anyURI {source="GARD:0009649"}

[Term]
id: MONDO:0009004
name: combined inflammatory and immunologic defect
synonym: "combined inflammatory and immunologic defect" EXACT [OMIM:216920]
xref: MESH:C565684 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:216920 {source="MONDO:equivalentTo"}
xref: UMLS:C1857617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216920"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565684
property_value: exactMatch http://identifiers.org/omim/216920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857617

[Term]
id: MONDO:0009005
name: complement component C1r/C1s deficiency
def: "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." [NCIT:C119991]
synonym: "C1r/C1s deficiency" RELATED [OMIM:216950]
synonym: "complement component C1r/C1s deficiency" EXACT [OMIM:216950]
xref: NCIT:C119991 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.56"}
xref: OMIM:216950 {source="MONDO:equivalentTo"}
xref: UMLS:C3150274 {source="NCIT:C119991", source="NCBI:mim2gene_medline", source="OMIM:216950", source="MONDO:equivalentTo"}
is_a: MONDO:0000015 {source="DC-OMIM:216950"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: exactMatch http://identifiers.org/omim/216950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150274
property_value: exactMatch NCIT:C119991

[Term]
id: MONDO:0009006
name: complement component 2 deficiency
def: "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions . Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency]
subset: gard_rare {source="GARD:0001452"}
synonym: "C2 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C2 deficiency" RELATED [OMIM:217000]
synonym: "C2D" RELATED [MONDO:Lexical, OMIM:217000]
synonym: "complement component 2 deficiency" EXACT [MONDO:Lexical, OMIM:217000]
synonym: "complement component 2 deficiency; C2D" RELATED [OMIM:217000]
synonym: "complement deficiency caused by mutation in C2" EXACT [MONDO:design_pattern]
xref: DOID:0060295 {source="MONDO:equivalentTo"}
xref: GARD:0001452 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060295"}
xref: NCIT:C119992 {source="MONDO:kboom-pr-1.00/0.76/8.32", source="MONDO:equivalentTo"}
xref: OMIM:217000 {source="MONDO:equivalentTo", source="DOID:0060295"}
xref: UMLS:C3150275 {source="NCIT:C119992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217000"}
is_a: MONDO:0000015 {source="DC-OMIM:217000"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: exactMatch DOID:0060295
property_value: exactMatch http://identifiers.org/omim/217000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150275
property_value: exactMatch NCIT:C119992
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency xsd:anyURI {source="GARD:0001452"}

[Term]
id: MONDO:0009007
name: Jalili syndrome
def: "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term)." [Orphanet:1873]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1873"}
synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [Orphanet:1873]
synonym: "cone-rod dystrophy amelogenesis imperfecta" RELATED [GARD:0001463]
synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [OMIM:217080]
synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463]
synonym: "Jalili syndrome" EXACT [GARD:0001463, OMIM:217080]
xref: GARD:0001463 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:1873", source="ORDO:1873/attributed", source="ORDO:1873/ntbt"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C000596385 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217080 {source="GARD:0001463", source="Orphanet:1873", source="ORDO:1873/e", source="MONDO:equivalentTo"}
xref: Orphanet:1873 {source="GARD:0001463", source="MONDO:equivalentTo", source="OMIM:217080"}
xref: SCTID:707608003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.32"}
xref: UMLS:C3495589 {source="Orphanet:1873", source="MONDO:equivalentTo", source="OMIM:217080"}
xref: UMLS:CN200616 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015336 {source="Orphanet:1873"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C000596385
property_value: exactMatch http://identifiers.org/omim/217080
property_value: exactMatch http://identifiers.org/snomedct/707608003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200616
property_value: exactMatch Orphanet:1873
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta xsd:anyURI {source="GARD:0001463"}

[Term]
id: MONDO:0009008
name: heart defect - tongue hamartoma - polysyndactyly syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1338"}
synonym: "CHDTHP" RELATED [MONDO:Lexical, OMIM:217085]
synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical, OMIM:217085]
synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly; CHDTHP" RELATED [OMIM:217085]
synonym: "heart defect, tongue hamartoma and polysyndactyly" RELATED [GARD:0002612]
synonym: "Orstavik Lindemann Solberg syndrome" RELATED [GARD:0004166]
synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338]
xref: GARD:0002612 {source="MONDO:equivalentTo"}
xref: GARD:0004166 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1338/attributed", source="ORDO:1338/ntbt", source="Orphanet:1338"}
xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="ORDO:1338/e", source="MONDO:ontobio"}
xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="ORDO:1338/e"}
xref: Orphanet:1338 {source="MONDO:equivalentTo", source="OMIM:217085"}
xref: UMLS:C2931046 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="ORDO:1338/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0043008 {source="Orphanet:1338"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857587
property_value: exactMatch http://identifiers.org/mesh/C535849
property_value: exactMatch http://identifiers.org/omim/217085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931046
property_value: exactMatch Orphanet:1338

[Term]
id: MONDO:0009009
name: hypoplasminogenemia
def: "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." [Orphanet:722]
subset: ordo_disease {source="Orphanet:722"}
synonym: "Dysplasminogenemia" RELATED [OMIM:217090]
synonym: "ligneous conjunctivitis" RELATED [OMIM:217090]
synonym: "plasminogen deficiency type 1" EXACT [Orphanet:722]
synonym: "plasminogen deficiency, type 1" RELATED [OMIM:217090]
synonym: "plasminogen deficiency, type 2" RELATED [OMIM:217090]
synonym: "plasminogen deficiency, type I" RELATED [OMIM:217090]
synonym: "type 1 plasminogen deficiency" RELATED [GARD:0004380]
xref: GARD:0004380 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L90.5 {source="Orphanet:722", source="ORDO:722/attributed", source="ORDO:722/ntbt"}
xref: MESH:C580017 {source="MONDO:equivalentTo"}
xref: OMIM:217090 {source="ORDO:722/e", source="Orphanet:722", source="MONDO:equivalentTo"}
xref: Orphanet:722 {source="MONDO:equivalentTo", source="OMIM:217090"}
xref: SCTID:95840007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
xref: UMLS:C0398621 {source="ORDO:722/e", source="Orphanet:722", source="MONDO:equivalentTo"}
xref: UMLS:C1968804 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:722", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217090"}
is_a: MONDO:0002242 {source="MESH:C580017"} ! coagulation protein disease
is_a: MONDO:0015938 {source="Orphanet:722"} ! systemic disease
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:722"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C580017
property_value: exactMatch http://identifiers.org/omim/217090
property_value: exactMatch http://identifiers.org/snomedct/95840007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968804
property_value: exactMatch Orphanet:722

[Term]
id: MONDO:0009010
name: aortic arch interruption
def: "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." [Orphanet:2299]
subset: gard_rare {source="GARD:0000740"}
subset: ordo_morphological_anomaly {source="Orphanet:2299"}
xref: GARD:0000740 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.1 {source="DOID:6406"}
xref: ICD10:Q25.21 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.4 {source="Orphanet:2299", source="ORDO:2299/ntbt"}
xref: ICD9:745.11 {source="DOID:6406"}
xref: MedDRA:10022599 {source="ORDO:2299/e", source="Orphanet:2299"}
xref: Orphanet:2299 {source="MONDO:equivalentTo"}
is_a: MONDO:0020286 {source="Orphanet:2299"} ! aortic malformation
property_value: exactMatch http://identifiers.org/meddra/10022599
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152419
property_value: exactMatch Orphanet:2299
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption xsd:anyURI {source="GARD:0000740"}

[Term]
id: MONDO:0009011
name: constriction rings syndrome
def: "Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise." [Orphanet:295000]
subset: ordo_malformation_syndrome {source="Orphanet:295000"}
synonym: "Adam Complex" RELATED [OMIM:217100]
synonym: "amniotic band sequence" RELATED [OMIM:217100]
synonym: "amputation, congenital" RELATED [OMIM:217100]
synonym: "congenital ring constrictions" EXACT [Orphanet:295000]
synonym: "CONSTRICTING bands, congenital" RELATED [OMIM:217100]
synonym: "constriction band syndrome" EXACT [Orphanet:295000]
synonym: "Streeter anomaly" RELATED [OMIM:217100]
synonym: "Streeter dysplasia" EXACT [Orphanet:295000]
synonym: "terminal transverse defects of arm" RELATED [OMIM:217100]
xref: ICD10:Q79.8 {source="Orphanet:295000", source="ORDO:295000/attributed", source="ORDO:295000/ntbt"}
xref: OMIM:217100 {source="ORDO:295000/e", source="Orphanet:295000", source="MONDO:equivalentTo"}
xref: Orphanet:295000 {source="OMIM:217100", source="MONDO:equivalentTo"}
is_a: MONDO:0015167 {source="Orphanet:295000"} ! amniotic band syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220724
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857577
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857583
property_value: exactMatch http://identifiers.org/omim/217100
property_value: exactMatch Orphanet:295000

[Term]
id: MONDO:0009012
name: multiple pterygium-malignant hyperthermia syndrome
def: "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." [Orphanet:2215]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2215"}
synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [OMIM:217150]
synonym: "froster-Iskenius-Waterson syndrome" RELATED [GARD:0003361]
synonym: "froster-Iskenius-Waterson-Hall syndrome" EXACT [Orphanet:2215]
synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0003361]
synonym: "malignant hyperthermia arthrogryposis torticollis" RELATED [GARD:0003361]
synonym: "malignant hyperthermia-arthrogryposis-torticollis syndrome" EXACT [Orphanet:2215]
xref: GARD:0003361 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2215/attributed", source="ORDO:2215/ntbt", source="Orphanet:2215"}
xref: MESH:C565679 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217150 {source="ORDO:2215/e", source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361"}
xref: Orphanet:2215 {source="MONDO:equivalentTo", source="OMIM:217150", source="GARD:0003361"}
xref: UMLS:C1857576 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2215", source="OMIM:217150", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:2215"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015501 {source="Orphanet:2215"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018753 {source="Orphanet:2215"} ! rare disease with malignant hyperthermia
property_value: exactMatch http://identifiers.org/mesh/C565679
property_value: exactMatch http://identifiers.org/omim/217150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857576
property_value: exactMatch Orphanet:2215
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis xsd:anyURI {source="GARD:0003361"}

[Term]
id: MONDO:0009013
name: convulsive disorder, familial, with prenatal or early onset
synonym: "convulsive disorder, familial, with prenatal or early onset" EXACT [OMIM:217200]
xref: MESH:C565678 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217200 {source="MONDO:equivalentTo"}
xref: UMLS:C1857575 {source="OMIM:217200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565678
property_value: exactMatch http://identifiers.org/omim/217200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857575

[Term]
id: MONDO:0009014
name: cornea plana 2
def: "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CNA2" RELATED [MONDO:Lexical, OMIM:217300]
synonym: "cornea plana 2" EXACT [MONDO:Lexical, OMIM:217300]
synonym: "cornea plana 2, autosomal recessive" RELATED [OMIM:217300]
synonym: "cornea plana 2, autosomal recessive; CNA2" RELATED [OMIM:217300]
synonym: "cornea plana 2; CNA2" RELATED [OMIM:217300]
synonym: "cornea plana caused by mutation in KERA" EXACT [MONDO:design_pattern]
synonym: "cornea plana type 2" EXACT [MONDORULE:1, OMIM:217300]
synonym: "KERA cornea plana" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565677 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217300 {source="MONDO:equivalentTo"}
xref: UMLS:C1857574 {source="OMIM:217300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018888 {source="ORDO:53691/btnt"} ! congenital cornea plana
property_value: exactMatch http://identifiers.org/mesh/C565677
property_value: exactMatch http://identifiers.org/omim/217300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857574

[Term]
id: MONDO:0009015
name: corneal dystrophy-perceptive deafness syndrome
def: "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss." [Orphanet:1490]
subset: ordo_malformation_syndrome {source="Orphanet:1490"}
synonym: "CDPD" EXACT [MONDO:Lexical, OMIM:217400, Orphanet:1490]
synonym: "Cdpd1" RELATED [OMIM:217400]
synonym: "congenital corneal dystrophy, progressive sensorineural deafness" RELATED [GARD:0001529]
synonym: "corneal dystrophy and perceptive deafness" RELATED [MONDO:Lexical, OMIM:217400]
synonym: "corneal dystrophy and perceptive deafness; CDPD" RELATED [OMIM:217400]
synonym: "corneal dystrophy and sensorineural deafness" RELATED [OMIM:217400]
synonym: "corneal dystrophy with progressive deafness" EXACT [Orphanet:1490]
synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490]
xref: GARD:0001529 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="ORDO:1490/attributed", source="ORDO:1490/ntbt", source="Orphanet:1490"}
xref: MESH:C535473 {source="MONDO:equivalentTo", source="ORDO:1490/e", source="MONDO:ontobio", source="Orphanet:1490"}
xref: OMIM:217400 {source="MONDO:equivalentTo", source="ORDO:1490/e", source="Orphanet:1490"}
xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"}
xref: SCTID:720749004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C1857572 {source="OMIM:217400", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1490/e", source="Orphanet:1490"}
is_a: MONDO:0019589 {source="Orphanet:1490"} ! syndromic genetic deafness
is_a: MONDO:0020215 {source="Orphanet:1490"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535473
property_value: exactMatch http://identifiers.org/omim/217400
property_value: exactMatch http://identifiers.org/snomedct/720749004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857572
property_value: exactMatch Orphanet:1490

[Term]
id: MONDO:0009016
name: band keratopathy
def: "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." [NCIT:P378]
synonym: "band keratopathy" EXACT [OMIM:217500]
synonym: "band-shaped keratopathy" EXACT [DOID:11164, ICD9CM_2006:371.43]
synonym: "corneal dystrophy, band-SHAPED" RELATED [OMIM:217500]
xref: COHD:436695 {source="MONDO:equivalentTo"}
xref: DOID:11164 {source="MONDO:equivalentTo"}
xref: ICD10:H18.42 {source="DOID:11164"}
xref: ICD9:371.43 {source="MONDO:equivalentTo", source="i2s", source="DOID:11164"}
xref: MESH:C562399 {source="MONDO:equivalentTo", source="DOID:11164", source="MONDO:ontobio"}
xref: NCIT:C118765 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11164"}
xref: OMIM:217500 {source="MONDO:equivalentTo", source="DOID:11164"}
xref: SCTID:35055000 {source="MONDO:equivalentTo", source="DOID:11164", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155120 {source="NCBI:mim2gene_medline", source="OMIM:217500", source="MONDO:equivalentTo", source="NCIT:C118765", source="DOID:11164"}
is_a: MONDO:0001515 {source="DOID:11164", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal degeneration
is_a: MONDO:0002261 {source="NCIT:C118765"} ! keratopathy
is_a: MONDO:0018102 {source="DC-OMIM:217500", source="MESH:C562399"} ! corneal dystrophy (disease)
property_value: exactMatch DOID:11164
property_value: exactMatch http://identifiers.org/mesh/C562399
property_value: exactMatch http://identifiers.org/omim/217500
property_value: exactMatch http://identifiers.org/snomedct/35055000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155120
property_value: exactMatch NCIT:C118765

[Term]
id: MONDO:0009017
name: corneal degeneration, band-shaped spheroid
synonym: "corneal degeneration, band-shaped spheroid" EXACT [OMIM:217520]
xref: OMIM:217520 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857571
property_value: exactMatch http://identifiers.org/omim/217520

[Term]
id: MONDO:0009018
name: central cloudy dystrophy of François
def: "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [Orphanet:98972]
subset: ordo_disease {source="Orphanet:98972"}
synonym: "CCDF" EXACT [MONDO:Lexical, OMIM:217600, Orphanet:98972]
synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972]
synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600]
synonym: "central cloudy dystrophy of Francois; CCDF" EXACT [OMIM:217600]
synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972]
synonym: "corneal dystrophy, central type" RELATED [OMIM:217600]
xref: ICD10:H18.5 {source="Orphanet:98972", source="ORDO:98972/attributed", source="ORDO:98972/ntbt"}
xref: MESH:C563262 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="ORDO:98972/e"}
xref: Orphanet:98972 {source="OMIM:217600", source="MONDO:equivalentTo"}
xref: SCTID:419074008 {source="MONDO:equivalentTo"}
xref: UMLS:C1622427 {source="Orphanet:98972", source="MEDGEN:kboom-pr97-c99", source="OMIM:217600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98972/e"}
is_a: MONDO:0020213 {source="Orphanet:98972-textdef"} ! stromal corneal dystrophy
is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563262
property_value: exactMatch http://identifiers.org/omim/217600
property_value: exactMatch http://identifiers.org/snomedct/419074008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1622427
property_value: exactMatch Orphanet:98972

[Term]
id: MONDO:0009019
name: congenital hereditary endothelial dystrophy of cornea
def: "Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [Orphanet:293603]
subset: gard_rare
subset: ordo_disease {source="Orphanet:293603"}
synonym: "autosomal recessive CHED" EXACT [Orphanet:293603]
synonym: "autosomal recessive congenital hereditary endothelial dystrophy" EXACT [Orphanet:293603]
synonym: "CHED" EXACT [DOID:0060649, MESH:C536439]
synonym: "CHED2" EXACT [GARD:0006196, MONDO:Lexical, OMIM:217700, Orphanet:293603]
synonym: "CHED2, formerly" RELATED [MESH:C536439]
synonym: "CHEDII" EXACT [Orphanet:293603]
synonym: "congenital hereditary endothelial dystrophy of cornea" EXACT [MESH:C536439, OMIM:217700]
synonym: "congenital hereditary endothelial dystrophy of the cornea" RELATED [GARD:0006196, MESH:C536439]
synonym: "congenital hereditary endothelial dystrophy type 2" EXACT [Orphanet:293603]
synonym: "congenital hereditary endothelial dystrophy type II" RELATED [Orphanet:293603]
synonym: "corneal dystrophy, congenital hereditary endothelial" RELATED [GARD:0006196, MESH:C536439, OMIM:217700]
synonym: "corneal endothelial dystrophy" RELATED [MESH:C536439]
synonym: "corneal endothelial dystrophy 2" RELATED [MESH:C536439]
synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:217700]
synonym: "corneal endothelial dystrophy 2, autosomal recessive, formerly" RELATED [MESH:C536439]
synonym: "corneal endothelial dystrophy 2, autosomal recessive; CHED2" RELATED [OMIM:217700]
synonym: "corneal endothelial dystrophy type 2" RELATED [GARD:0006196]
synonym: "corneal endothelial dystrophy; CHED" RELATED [OMIM:217700]
synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603]
synonym: "Maumenee corneal dystrophy" EXACT [Orphanet:293603]
xref: DOID:0060649 {source="MONDO:equivalentTo"}
xref: GARD:0006196 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="ORDO:293603/attributed", source="ORDO:293603/ntbt", source="Orphanet:293603"}
xref: MESH:C536439 {source="MONDO:equivalentTo"}
xref: OMIM:217700 {source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603", source="ORDO:293603/e"}
xref: Orphanet:293603 {source="MONDO:equivalentTo", source="OMIM:217700", source="GARD:0006196"}
is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:293603"} ! posterior corneal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857569
property_value: exactMatch DOID:0060649
property_value: exactMatch http://identifiers.org/mesh/C536439
property_value: exactMatch http://identifiers.org/omim/217700
property_value: exactMatch Orphanet:293603
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 xsd:anyURI {source="GARD:0006196"}

[Term]
id: MONDO:0009020
name: macular corneal dystrophy
def: "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." [Orphanet:98969]
subset: ordo_disease {source="Orphanet:98969"}
synonym: "corneal dystrophy Groenouw type II" EXACT [Orphanet:98969]
synonym: "corneal dystrophy, macular type" RELATED [OMIM:217800]
synonym: "Fehr corneal dystrophy" EXACT [DOID:2565, Orphanet:98969]
synonym: "Groenouw type 2 corneal dystrophy" RELATED [OMIM:217800]
synonym: "Groenouw type II corneal dystrophy" RELATED [GARD:0006953]
synonym: "macular corneal dystrophy type 1" RELATED [GARD:0006953]
synonym: "macular corneal dystrophy, type 1" RELATED [OMIM:217800]
synonym: "macular corneal dystrophy, type 2" RELATED [OMIM:217800]
synonym: "macular dystrophy, corneal" RELATED [MONDO:Lexical, OMIM:217800]
synonym: "macular dystrophy, corneal type 1" RELATED [GARD:0006953]
synonym: "macular dystrophy, corneal, 1" EXACT [DOID:2565]
synonym: "macular dystrophy, corneal; MCD" RELATED [OMIM:217800]
synonym: "MCD" EXACT [Orphanet:98969]
synonym: "MCD" RELATED [MONDO:Lexical, OMIM:217800]
synonym: "Mcdc1" RELATED [OMIM:217800]
synonym: "Mcdc1, formerly" RELATED [OMIM:217800]
xref: DOID:2565 {source="MONDO:equivalentTo"}
xref: GARD:0006953 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="ORDO:98969/attributed", source="ORDO:98969/ntbt", source="Orphanet:98969"}
xref: ICD10:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"}
xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10025406 {source="ORDO:98969/e", source="Orphanet:98969"}
xref: NCIT:C34793 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:217800 {source="DOID:2565", source="MONDO:equivalentTo", source="ORDO:98969/e", source="Orphanet:98969"}
xref: Orphanet:98969 {source="MONDO:equivalentTo", source="OMIM:217800"}
xref: SCTID:60258001 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.62/0.41"}
xref: UMLS:C0024439 {source="DOID:2565", source="MONDO:equivalentTo", source="NCIT:C34793", source="ORDO:98969/e", source="Orphanet:98969"}
is_a: MONDO:0020213 {source="DOID:2565", source="Orphanet:98969", source="linkedlifedata"} ! stromal corneal dystrophy
is_a: MONDO:0020242 ! genetic macular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1636149
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1691013
property_value: exactMatch DOID:2565
property_value: exactMatch http://identifiers.org/meddra/10025406
property_value: exactMatch http://identifiers.org/omim/217800
property_value: exactMatch http://identifiers.org/snomedct/60258001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024439
property_value: exactMatch NCIT:C34793
property_value: exactMatch Orphanet:98969

[Term]
id: MONDO:0009021
name: Toriello-Carey syndrome
def: "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." [Orphanet:3338]
subset: gard_rare {source="GARD:0005225"}
subset: ordo_malformation_syndrome {source="Orphanet:3338"}
synonym: "agenesis of corpus callosum with facial anomalies and Robin sequence" RELATED [GARD:0005225]
synonym: "corpus callosum agenesis facial anomalies Robin sequence" RELATED [GARD:0005225]
synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXACT [Orphanet:3338]
synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980]
synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980]
xref: GARD:0005225 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3338/attributed", source="ORDO:3338/ntbt", source="Orphanet:3338"}
xref: MESH:C563127 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="ORDO:3338/e"}
xref: Orphanet:3338 {source="OMIM:217980", source="MONDO:equivalentTo"}
xref: SCTID:722477003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C0796184 {source="OMIM:217980", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3338"}
is_a: MONDO:0015335 {source="Orphanet:3338"} ! orofacial clefting syndrome
is_a: MONDO:0017122 {source="Orphanet:3338"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:3338"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C563127
property_value: exactMatch http://identifiers.org/omim/217980
property_value: exactMatch http://identifiers.org/snomedct/722477003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796184
property_value: exactMatch Orphanet:3338
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome xsd:anyURI {source="GARD:0005225"}

[Term]
id: MONDO:0009022
name: corpus callosum, agenesis of
def: "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." [NCIT:C98905]
synonym: "ACC" RELATED [OMIM:217990]
synonym: "agenesis of corpus callosum" EXACT [NCIT:C98905]
synonym: "agenesis of the corpus callosum" RELATED [GARD:0001535]
synonym: "corpus callosum agenesis" EXACT [NCIT:C98905]
synonym: "corpus callosum, agenesis of" EXACT [OMIM:217990]
synonym: "isolated corpus callosum agenesis" RELATED [GARD:0001535]
xref: GARD:0001535 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:D061085 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98905 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: OMIM:217990 {source="MONDO:equivalentTo"}
xref: SCTID:5102002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0002320 {source="NCIT:C98905"} ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175754
property_value: closeMatch Orphanet:200
property_value: exactMatch http://identifiers.org/mesh/D061085
property_value: exactMatch http://identifiers.org/omim/217990
property_value: exactMatch http://identifiers.org/snomedct/5102002
property_value: exactMatch NCIT:C98905

[Term]
id: MONDO:0009023
name: obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
is_obsolete: true
replaced_by: MONDO:0000902

[Term]
id: MONDO:0009024
name: cortical blindness-intellectual disability-polydactyly syndrome
def: "This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly." [Orphanet:1389]
subset: gard_rare {source="GARD:0001548"}
subset: ordo_malformation_syndrome {source="Orphanet:1389"}
synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010]
xref: GARD:0001548 {source="MONDO:equivalentTo"}
xref: MESH:C565674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218010 {source="Orphanet:1389", source="ORDO:1389/e", source="MONDO:equivalentTo"}
xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"}
xref: UMLS:C1857568 {source="Orphanet:1389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218010"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1389", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020262 {source="Orphanet:1389"} ! nervous system anomaly with eye involvement
property_value: exactMatch http://identifiers.org/mesh/C565674
property_value: exactMatch http://identifiers.org/omim/218010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857568
property_value: exactMatch Orphanet:1389
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome xsd:anyURI {source="GARD:0001548"}

[Term]
id: MONDO:0009025
name: apparent mineralocorticoid excess
def: "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." [Orphanet:320]
subset: gard_rare {source="GARD:0000433"}
subset: ordo_disease {source="Orphanet:320"}
synonym: "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" EXACT [NCIT:C131083]
synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:0090121, Orphanet:320]
synonym: "AME" RELATED [MONDO:Lexical, OMIM:218030]
synonym: "AME 1" RELATED [GARD:0000433]
synonym: "Ame1" RELATED [OMIM:218030]
synonym: "ape" EXACT [DOID:0090121]
synonym: "apparent mineralocorticoid excess" EXACT [MONDO:Lexical, OMIM:218030]
synonym: "apparent mineralocorticoid EXCESS; AME" RELATED [OMIM:218030]
synonym: "cortisol 11-Beta-ketoreductase deficiency" RELATED [OMIM:218030]
synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:0090121]
synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320]
xref: DOID:0090121 {source="MONDO:equivalentTo"}
xref: GARD:0000433 {source="MONDO:equivalentTo"}
xref: ICD10:E26.1 {source="ORDO:320/attributed", source="ORDO:320/ntbt", source="DOID:0090121", source="Orphanet:320"}
xref: MESH:C537422 {source="DOID:0090121", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:320/e", source="Orphanet:320"}
xref: NCIT:C131083 {source="MONDO:equivalentTo"}
xref: OMIM:218030 {source="DOID:0090121", source="MONDO:equivalentTo", source="ORDO:320/e", source="Orphanet:320"}
xref: Orphanet:320 {source="DOID:0090121", source="MONDO:equivalentTo", source="OMIM:218030"}
xref: SCTID:703256004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2936861 {source="DOID:0090121", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:320/e", source="Orphanet:320", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3887949 {source="MONDO:equivalentTo", source="Orphanet:320"}
xref: UMLS:CN203981 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:320"} ! adrenal gland disease
is_a: MONDO:0015512 {source="Orphanet:320"} ! genetic hypertension
relationship: excluded_subClassOf MONDO:0006640 {source="DOID:0090121"} ! adrenal gland hyperfunction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415737
property_value: exactMatch DOID:0090121
property_value: exactMatch http://identifiers.org/mesh/C537422
property_value: exactMatch http://identifiers.org/mesh/D043204
property_value: exactMatch http://identifiers.org/omim/218030
property_value: exactMatch http://identifiers.org/snomedct/703256004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887949
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203981
property_value: exactMatch NCIT:C131083
property_value: exactMatch Orphanet:320
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess xsd:anyURI {source="GARD:0000433"}

[Term]
id: MONDO:0009026
name: Costello syndrome
def: "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." [Orphanet:3071]
subset: clingen
subset: gard_rare {source="GARD:0001550"}
subset: ordo_malformation_syndrome {source="Orphanet:3071"}
synonym: "Costello syndrome" EXACT [MONDO:Lexical, OMIM:218040]
synonym: "Costello syndrome; CSTLO" RELATED [OMIM:218040]
synonym: "CSTLO" RELATED [MONDO:Lexical, OMIM:218040]
synonym: "faciocutaneoskeletal syndrome" EXACT [DOID:0050469, OMIM:218040, Orphanet:3071]
synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071]
synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040]
xref: DOID:0050469 {source="MONDO:equivalentTo"}
xref: GARD:0001550 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3071/attributed", source="ORDO:3071/ntbt", source="Orphanet:3071"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067380 {source="Orphanet:3071", source="ORDO:3071/e"}
xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e"}
xref: NCIT:C84652 {source="DOID:0050469", source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:218040 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e"}
xref: Orphanet:3071 {source="MONDO:equivalentTo", source="OMIM:218040"}
xref: SCTID:309776008 {source="DOID:0050469", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0587248 {source="NCBI:mim2gene_medline", source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e", source="OMIM:218040", source="NCIT:C84652"}
is_a: MONDO:0000426 {source="DOID:0050469", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3071", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3071"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015331 {source="Orphanet:3071"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015945 {source="Orphanet:3071"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018792 {source="Orphanet:3071"} ! Moyamoya syndrome
is_a: MONDO:0019292 {source="Orphanet:3071", source="Orphanet:3071/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0020297 {source="Orphanet:3071"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/205803001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968782
property_value: exactMatch DOID:0050469
property_value: exactMatch http://identifiers.org/meddra/10067380
property_value: exactMatch http://identifiers.org/mesh/D056685
property_value: exactMatch http://identifiers.org/omim/218040
property_value: exactMatch http://identifiers.org/snomedct/309776008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0587248
property_value: exactMatch NCIT:C84652
property_value: exactMatch Orphanet:3071
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome xsd:anyURI {source="GARD:0001550"}

[Term]
id: MONDO:0009027
name: cramps, familial adolescent
synonym: "cramps, familial adolescent" EXACT [OMIM:218050]
xref: OMIM:218050 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857533
property_value: exactMatch http://identifiers.org/omim/218050

[Term]
id: MONDO:0009028
name: Crane-Heise syndrome
def: "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." [Orphanet:1512]
subset: gard_rare {source="GARD:0008428"}
subset: ordo_malformation_syndrome {source="Orphanet:1512"}
synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090]
synonym: "Crane-Heise syndrome" EXACT [OMIM:218090]
xref: GARD:0008428 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:1512/attributed", source="ORDO:1512/ntbt", source="Orphanet:1512"}
xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e", source="MONDO:ontobio"}
xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e"}
xref: Orphanet:1512 {source="OMIM:218090", source="MONDO:equivalentTo"}
xref: SCTID:715991005 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C1857532 {source="OMIM:218090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1512", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1512"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:1512"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C536452
property_value: exactMatch http://identifiers.org/omim/218090
property_value: exactMatch http://identifiers.org/snomedct/715991005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857532
property_value: exactMatch Orphanet:1512
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome xsd:anyURI {source="GARD:0008428"}

[Term]
id: MONDO:0009029
name: cranial nerves, congenital paresis of
synonym: "cranial nerves, congenital paresis of" EXACT [OMIM:218100]
xref: MESH:C565673 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218100 {source="MONDO:equivalentTo"}
xref: UMLS:C1857531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565673
property_value: exactMatch http://identifiers.org/omim/218100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857531

[Term]
id: MONDO:0009030
name: cranial nerves, recurrent paresis of
synonym: "cranial nerves, recurrent paresis of" EXACT [OMIM:218200]
xref: MESH:C565672 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218200 {source="MONDO:equivalentTo"}
xref: UMLS:C1857530 {source="OMIM:218200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565672
property_value: exactMatch http://identifiers.org/omim/218200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857530

[Term]
id: MONDO:0009031
name: craniodiaphyseal dysplasia
def: "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." [Orphanet:1513]
subset: gard_rare {source="GARD:0001567"}
subset: ordo_malformation_syndrome {source="Orphanet:1513"}
synonym: "CDD" RELATED [MONDO:Lexical, OMIM:122860, OMIM:218300]
synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300]
synonym: "craniodiaphyseal dysplasia; CDD" RELATED [OMIM:218300]
synonym: "Lionitis" EXACT [NCIT:C131429]
xref: DOID:0080032 {source="MONDO:equivalentTo"}
xref: GARD:0001567 {source="MONDO:equivalentTo"}
xref: ICD10:M85.2 {source="ORDO:1513/attributed", source="ORDO:1513/ntbt", source="Orphanet:1513"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562940 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131429 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.09"}
xref: OMIM:218300 {source="ORDO:1513/btnt", source="MONDO:equivalentTo", source="Orphanet:1513"}
xref: Orphanet:1513 {source="OMIM:218300", source="MONDO:equivalentTo", source="OMIM:122860"}
xref: SCTID:205506004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0410539 {source="OMIM:218300", source="NCBI:mim2gene_medline", source="NCIT:C131429", source="MONDO:equivalentTo", source="ORDO:1513/e", source="Orphanet:1513"}
is_a: MONDO:0002185 {source="NCIT:C131429"} ! hyperostosis
is_a: MONDO:0015465 ! craniometaphyseal dysplasia
is_a: MONDO:0020018 {source="Orphanet:1513"} ! cranial malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675746
property_value: exactMatch DOID:0080032
property_value: exactMatch http://identifiers.org/mesh/C562940
property_value: exactMatch http://identifiers.org/omim/122860
property_value: exactMatch http://identifiers.org/omim/218300
property_value: exactMatch http://identifiers.org/snomedct/205506004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410539
property_value: exactMatch NCIT:C131429
property_value: exactMatch Orphanet:1513
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia xsd:anyURI {source="GARD:0001567"}

[Term]
id: MONDO:0009032
name: cranioectodermal dysplasia
def: "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." [Orphanet:1515]
subset: ordo_malformation_syndrome {source="Orphanet:1515"}
synonym: "CED" EXACT [Orphanet:1515]
synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577]
synonym: "Levin syndrome" EXACT [DOID:0050577]
synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515]
xref: DOID:0050577 {source="MONDO:equivalentTo"}
xref: GARD:0000359 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.5 {source="ORDO:1515/attributed", source="ORDO:1515/ntbt", source="Orphanet:1515"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129305 {source="MONDO:kboom-pr-0.96/0.70/2.55", source="MONDO:equivalentTo"}
xref: OMIMPS:218330 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1515 {source="MONDO:equivalentTo", source="OMIM:218330"}
xref: SCTID:254093009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1515/e", source="NCIT:C129305", source="Orphanet:1515", source="OMIM:218330"}
xref: UMLS:CN016627 {source="MONDO:equivalentTo"}
xref: UMLS:CN119432 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011679 ! craniosynostosis syndrome, autosomal recessive
is_a: MONDO:0015338 {source="Orphanet:1515"} ! syndromic craniosynostosis
is_a: MONDO:0015461 {source="Orphanet:1515"} ! short rib-polydactyly syndrome
is_a: MONDO:0015962 {source="Orphanet:1515"} ! inherited renal tubular disease
is_a: MONDO:0019287 {source="MONDOLEX:0009032", source="Orphanet:1515", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019744 {source="Orphanet:1515"} ! rare renal tubular disease
property_value: exactMatch DOID:0050577
property_value: exactMatch http://identifiers.org/snomedct/254093009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN016627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119432
property_value: exactMatch NCIT:C129305
property_value: exactMatch Orphanet:1515

[Term]
id: MONDO:0009033
name: temtamy syndrome
def: "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." [Orphanet:1777]
subset: gard_rare {source="GARD:0005688"}
subset: ordo_malformation_syndrome {source="Orphanet:1777"}
synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" RELATED [GARD:0005688]
synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [Orphanet:1777]
synonym: "Dysmorphism, corpus callosum agenesis and colobomas" RELATED [GARD:0005688]
synonym: "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED [OMIM:218340]
synonym: "temtamy syndrome" EXACT [MONDO:Lexical, OMIM:218340]
synonym: "TEMTAMY syndrome; TEMTYS" RELATED [OMIM:218340]
synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777]
synonym: "TEMTYS" RELATED [MONDO:Lexical, OMIM:218340]
xref: GARD:0005688 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1777/attributed", source="ORDO:1777/ntbt", source="Orphanet:1777"}
xref: MESH:C536959 {source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777", source="MONDO:ontobio"}
xref: NCIT:C148371 {source="MONDO:equivalentTo"}
xref: OMIM:218340 {source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777"}
xref: Orphanet:1777 {source="MONDO:equivalentTo", source="OMIM:218340"}
xref: SCTID:719947004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1857512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777", source="OMIM:218340"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1777", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1777"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 {source="Orphanet:1777"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536959
property_value: exactMatch http://identifiers.org/omim/218340
property_value: exactMatch http://identifiers.org/snomedct/719947004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857512
property_value: exactMatch NCIT:C148371
property_value: exactMatch Orphanet:1777
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome xsd:anyURI {source="GARD:0005688"}

[Term]
id: MONDO:0009034
name: craniofacial dyssynostosis
def: "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus." [Orphanet:1516]
subset: gard_rare {source="GARD:0001575"}
subset: ordo_malformation_syndrome {source="Orphanet:1516"}
synonym: "bilateral lambdoid and sagittal synostosis" RELATED [OMIM:218350]
synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575]
synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350]
synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575]
xref: GARD:0001575 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1516/attributed", source="ORDO:1516/ntbt", source="Orphanet:1516"}
xref: MESH:C536455 {source="MONDO:equivalentTo", source="Orphanet:1516", source="MONDO:ontobio", source="ORDO:1516/e"}
xref: OMIM:218350 {source="MONDO:equivalentTo", source="Orphanet:1516", source="ORDO:1516/e"}
xref: Orphanet:1516 {source="MONDO:equivalentTo", source="OMIM:218350"}
xref: UMLS:C1857511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1516", source="ORDO:1516/e", source="OMIM:218350"}
is_a: MONDO:0020018 {source="Orphanet:1516", source="Orphanet:1516/inferred"} ! cranial malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536455
property_value: exactMatch http://identifiers.org/omim/218350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857511
property_value: exactMatch Orphanet:1516
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis xsd:anyURI {source="GARD:0001575"}

[Term]
id: MONDO:0009035
name: craniometaphyseal dysplasia, autosomal recessive
def: "Autosomal recessive form of craniometaphyseal dysplasia." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [MONDO:design_pattern]
synonym: "CMDR" RELATED [MONDO:Lexical, OMIM:218400]
synonym: "craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:218400]
synonym: "craniometaphyseal dysplasia, autosomal recessive type" RELATED [GARD:0001582]
synonym: "craniometaphyseal dysplasia, autosomal recessive; CMDR" RELATED [OMIM:218400]
xref: GARD:0001582 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536570 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218400 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015465 {source="DC-OMIM:218400", source="MONDO:Entailed", source="MONDO:Redundant"} ! craniometaphyseal dysplasia
is_a: MONDO:0042973 ! familial osteosclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857496
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931244
property_value: exactMatch http://identifiers.org/mesh/C536570
property_value: exactMatch http://identifiers.org/omim/218400

[Term]
id: MONDO:0009036
name: cardiocranial syndrome, Pfeiffer type
def: "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." [Orphanet:2872]
subset: ordo_malformation_syndrome {source="Orphanet:2872"}
synonym: "Cardiocranial syndrome" RELATED [GARD:0008586]
synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [OMIM:218450]
synonym: "craniosynostosis-congenital heart disease-intellectual disability syndrome" EXACT [Orphanet:2872]
synonym: "Pfeiffer Cardiocranial syndrome" RELATED [OMIM:218450]
synonym: "Pfeiffer Singer Zschiesche syndrome" RELATED [GARD:0008586]
synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872]
synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586]
synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872]
xref: GARD:0008586 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2872", source="ORDO:2872/attributed", source="ORDO:2872/ntbt"}
xref: MESH:C535578 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218450 {source="Orphanet:2872", source="ORDO:2872/e", source="MONDO:equivalentTo"}
xref: Orphanet:2872 {source="MONDO:equivalentTo", source="OMIM:218450"}
xref: SCTID:720606005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C1857495 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218450"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2872", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2872"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2872"} ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C535578
property_value: exactMatch http://identifiers.org/omim/218450
property_value: exactMatch http://identifiers.org/snomedct/720606005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857495
property_value: exactMatch Orphanet:2872

[Term]
id: MONDO:0009037
name: craniosynostosis with anomalies of the cranial base and digits
synonym: "craniosynostosis with anomalies of the cranial base and digits" EXACT [OMIM:218530]
xref: MESH:C565666 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218530 {source="MONDO:equivalentTo"}
xref: UMLS:C1857493 {source="OMIM:218530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565666
property_value: exactMatch http://identifiers.org/omim/218530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857493

[Term]
id: MONDO:0009038
name: craniosynostosis-fibular aplasia syndrome
def: "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." [Orphanet:1533]
subset: ordo_malformation_syndrome {source="Orphanet:1533"}
synonym: "craniosynostosis with fibular aplasia" RELATED [OMIM:218550]
synonym: "Lowry syndrome" EXACT [Orphanet:1533]
xref: ICD10:Q87.2 {source="ORDO:1533/attributed", source="ORDO:1533/ntbt", source="Orphanet:1533"}
xref: MESH:C565665 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218550 {source="ORDO:1533/e", source="MONDO:equivalentTo", source="Orphanet:1533"}
xref: Orphanet:1533 {source="MONDO:equivalentTo", source="OMIM:218550"}
xref: SCTID:732250002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1533", source="MEDGEN:kboom-pr92-c96", source="OMIM:218550"}
is_a: MONDO:0015338 {source="Orphanet:1533"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C565665
property_value: exactMatch http://identifiers.org/omim/218550
property_value: exactMatch http://identifiers.org/snomedct/732250002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857492
property_value: exactMatch Orphanet:1533

[Term]
id: MONDO:0009039
name: Baller-Gerold syndrome
def: "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." [Orphanet:1225]
subset: gard_rare {source="GARD:0001602"}
subset: ordo_malformation_syndrome {source="Orphanet:1225"}
synonym: "Baller-Gerold syndrome" EXACT [MONDO:Lexical, OMIM:218600]
synonym: "BALLER-Gerold syndrome; BGS" RELATED [OMIM:218600]
synonym: "BGS" RELATED [MONDO:Lexical, OMIM:218600]
synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600]
synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600]
xref: DOID:0050654 {source="MONDO:equivalentTo"}
xref: GARD:0001602 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="ORDO:1225/attributed", source="ORDO:1225/ntbt", source="Orphanet:1225"}
xref: MESH:C536788 {source="DOID:0050654", source="ORDO:1225/e", source="MONDO:equivalentTo", source="Orphanet:1225", source="MONDO:ontobio"}
xref: OMIM:218600 {source="DOID:0050654", source="ORDO:1225/e", source="MONDO:equivalentTo", source="Orphanet:1225"}
xref: Orphanet:1225 {source="OMIM:218600", source="MONDO:equivalentTo"}
xref: SCTID:77608001 {source="DOID:0050654", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265308 {source="DOID:0050654", source="ORDO:1225/e", source="NCBI:mim2gene_medline", source="OMIM:218600", source="MONDO:equivalentTo", source="Orphanet:1225"}
is_a: MONDO:0015246 {source="Orphanet:1225"} ! syndromic anorectal malformation
is_a: MONDO:0015338 {source="Orphanet:1225"} ! syndromic craniosynostosis
property_value: exactMatch DOID:0050654
property_value: exactMatch http://identifiers.org/mesh/C536788
property_value: exactMatch http://identifiers.org/omim/218600
property_value: exactMatch http://identifiers.org/snomedct/77608001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265308
property_value: exactMatch Orphanet:1225
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome xsd:anyURI {source="GARD:0001602"}

[Term]
id: MONDO:0009040
name: craniosynostosis-mental retardation syndrome of 51N and Gettig
synonym: "craniosynostosis-intellectual disability syndrome of Lin and Gettig" RELATED [GARD:0010282]
synonym: "craniosynostosis-mental retardation syndrome of LIN and GETTIG" RELATED [OMIM:218649]
synonym: "Lin-Gettig syndrome" RELATED [GARD:0010282]
xref: GARD:0010282 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C565664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218649 {source="MONDO:equivalentTo"}
xref: UMLS:C1857473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218649"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565664
property_value: exactMatch http://identifiers.org/omim/218649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857473

[Term]
id: MONDO:0009041
name: craniosynostosis-mental retardation-clefting syndrome
def: "A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose." [https://orcid.org/0000-0001-5208-3432, PMID:7172471]
subset: gard_rare {source="GARD:0001599"}
synonym: "Baraitser Rodeck garner syndrome" EXACT [GARD:0000817, MESH:C537906]
synonym: "craniosynostosis mental retardation clefting syndrome" RELATED [GARD:0001599]
synonym: "craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose" RELATED [GARD:0000817]
synonym: "craniosynostosis-mental retardation-clefting syndrome" EXACT [OMIM:218650]
xref: GARD:0000817 {source="MONDO:equivalentTo"}
xref: GARD:0001599 {source="MONDO:equivalentTo"}
xref: MESH:C537906 {source="MONDO:equivalentTo"}
xref: MESH:C565663 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218650 {source="MONDO:equivalentTo", source="GARD:0000817"}
xref: UMLS:C1857472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218650"}
xref: UMLS:C2931663 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000817"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0001476 {source="MESH:C537906"} ! coloboma
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004747 {source="MESH:C537906"} ! cleft lip (disease)
is_a: MONDO:0016064 {source="MESH:C537906"} ! cleft palate
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019741 ! familial cystic renal disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537906", source="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537906
property_value: exactMatch http://identifiers.org/mesh/C565663
property_value: exactMatch http://identifiers.org/omim/218650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857472
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931663

[Term]
id: MONDO:0009042
name: craniotelencephalic dysplasia
def: "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." [Orphanet:1528]
subset: gard_rare {source="GARD:0001605"}
subset: ordo_malformation_syndrome {source="Orphanet:1528"}
synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605]
synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670]
xref: GARD:0001605 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:1528/attributed", source="ORDO:1528/ntbt", source="Orphanet:1528"}
xref: MESH:C535597 {source="MONDO:equivalentTo", source="ORDO:1528/e", source="MONDO:ontobio", source="Orphanet:1528"}
xref: OMIM:218670 {source="MONDO:equivalentTo", source="ORDO:1528/e", source="Orphanet:1528"}
xref: Orphanet:1528 {source="MONDO:equivalentTo", source="OMIM:218670"}
xref: SCTID:715422002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1857471 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1528/e", source="OMIM:218670", source="Orphanet:1528"}
is_a: MONDO:0015147 {source="Orphanet:1528"} ! other syndrome with lissencephaly as a major feature
is_a: MONDO:0015338 {source="Orphanet:1528"} ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C535597
property_value: exactMatch http://identifiers.org/omim/218670
property_value: exactMatch http://identifiers.org/snomedct/715422002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857471
property_value: exactMatch Orphanet:1528
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia xsd:anyURI {source="GARD:0001605"}

[Term]
id: MONDO:0009043
name: generalized resistance to thyroid hormone
def: "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." [MONDO:cjm, PMID:8475937]
subset: ordo_disease {source="Orphanet:3221"}
synonym: "deafness-thyroid hormone resistance syndrome" NARROW [Orphanet:3221]
synonym: "GRTH" EXACT [PMID:8475937]
synonym: "Refetoff syndrome" EXACT [Orphanet:3221]
xref: ICD10:E07.8 {source="Orphanet:3221", source="ORDO:3221/attributed", source="ORDO:3221/ntbt"}
xref: Orphanet:3221 {source="MONDO:equivalentTo"}
is_a: MONDO:0001328 {source="MONDO:cjm", source="PMID:8475937"} ! thyroid hormone resistance syndrome
is_a: MONDO:0004425 {source="Orphanet:3221"} ! hyperthyroidism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015894"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2940786
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489796
property_value: exactMatch Orphanet:3221

[Term]
id: MONDO:0009044
name: Crigler-Najjar syndrome
def: "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." [Orphanet:205]
subset: ordo_disease {source="Orphanet:205"}
synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803]
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [Orphanet:205]
synonym: "bilirubin-UGT deficiency" EXACT [Orphanet:205]
synonym: "Crigler Najjar syndrome" EXACT [CSP2005:1654-1020, DOID:3803]
synonym: "Crigler-Najjar syndrome" EXACT [OMIM:218800]
synonym: "Crigler-Najjar syndrome, type I" EXACT EXCLUDE [DOID:3803]
synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205]
synonym: "UGT deficiency" EXACT [Orphanet:205]
xref: DOID:3803 {source="MONDO:equivalentTo"}
xref: ICD10:E80.5 {source="ORDO:205/e", source="ORDO:205/specific", source="MONDO:equivalentTo"}
xref: MedDRA:10011386 {source="ORDO:205/e", source="Orphanet:205"}
xref: MESH:D003414 {source="ORDO:205/e", source="Orphanet:205", source="MONDO:equivalentTo", source="DOID:3803"}
xref: NCIT:C84656 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:3803"}
xref: Orphanet:205 {source="MONDO:equivalentTo", source="OMIM:218800"}
xref: SCTID:28259009 {source="MONDO:kboom-pr-0.88/0.75/0.15", source="MONDO:equivalentTo", source="DOID:3803"}
xref: UMLS:C0010324 {source="NCIT:C84656", source="ORDO:205/e", source="Orphanet:205", source="MONDO:equivalentTo", source="OMIM:218800", source="DOID:3803", source="Orphanet:79234"}
xref: UMLS:CN119421 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0009044", source="NCIT:C84656"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:218800", source="DOID:3803", source="MESH:D003414", source="MONDOLEX:0009044", source="NCIT:C84656"} ! hereditary hyperbilirubinemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/190933008
property_value: exactMatch DOID:3803
property_value: exactMatch http://identifiers.org/meddra/10011386
property_value: exactMatch http://identifiers.org/mesh/D003414
property_value: exactMatch http://identifiers.org/snomedct/28259009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119421
property_value: exactMatch NCIT:C84656
property_value: exactMatch Orphanet:205

[Term]
id: MONDO:0009045
name: cataract-nephropathy-encephalopathy syndrome
def: "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." [Orphanet:1380]
subset: ordo_malformation_syndrome {source="Orphanet:1380"}
synonym: "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" RELATED [GARD:0001614]
synonym: "crome syndrome" EXACT [OMIM:218900, Orphanet:1380]
xref: GARD:0001614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1380/attributed", source="ORDO:1380/ntbt", source="Orphanet:1380"}
xref: MESH:C536216 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:218900 {source="MONDO:equivalentTo", source="ORDO:1380/e", source="Orphanet:1380"}
xref: Orphanet:1380 {source="MONDO:equivalentTo", source="OMIM:218900"}
xref: SCTID:722381004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0795914 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218900", source="ORDO:1380/e", source="Orphanet:1380"}
is_a: MONDO:0000508 {source="Orphanet:1380"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:1380"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C536216
property_value: exactMatch http://identifiers.org/omim/218900
property_value: exactMatch http://identifiers.org/snomedct/722381004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795914
property_value: exactMatch Orphanet:1380

[Term]
id: MONDO:0009046
name: Fraser syndrome
def: "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." [Orphanet:2052]
subset: gard_rare {source="GARD:0006465"}
subset: ordo_malformation_syndrome {source="Orphanet:2052"}
subset: prototype_pattern
synonym: "cryptophthalmos syndrome" RELATED [GARD:0006465]
synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000]
synonym: "cryptophthalmos with other malformations" EXACT [DOID:0090001]
synonym: "cryptophthalmos-syndactyly syndrome" EXACT [OMIM:219000, Orphanet:2052]
synonym: "cyclopism" RELATED [GARD:0006465]
synonym: "Fraser syndrome" EXACT [OMIM:219000]
synonym: "Fraser-Francois syndrome" RELATED [GARD:0006465]
synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465]
synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465]
xref: DOID:0090001 {source="MONDO:equivalentTo"}
xref: GARD:0006465 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0090001", source="Orphanet:2052", source="ORDO:2052/attributed", source="ORDO:2052/ntbt"}
xref: MESH:D058497 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2052", source="ORDO:2052/e"}
xref: NCIT:C118436 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.82"}
xref: OMIMPS:219000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2052 {source="DOID:0090001", source="MONDO:equivalentTo", source="OMIM:219000"}
xref: SCTID:204102004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.68"}
xref: UMLS:C0265233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:219000", source="Orphanet:2052"}
is_a: MONDO:0006025 {source="DOID:0090001", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015218 {source="Orphanet:2052"} ! syndromic developmental defect of the eye
is_a: MONDO:0015246 {source="Orphanet:2052"} ! syndromic anorectal malformation
is_a: MONDO:0019589 {source="Orphanet:2052"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2052"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020153 {source="Orphanet:2052"} ! cryptophthalmia
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2052"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0090001
property_value: exactMatch http://identifiers.org/mesh/D058497
property_value: exactMatch http://identifiers.org/omim/219000
property_value: exactMatch http://identifiers.org/snomedct/204102004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265233
property_value: exactMatch NCIT:C118436
property_value: exactMatch Orphanet:2052
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome xsd:anyURI {source="GARD:0006465"}

[Term]
id: MONDO:0009047
name: cryptorchidism (disease)
def: "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." [NCIT:P378]
synonym: "cryptorchidism" EXACT [MONDO:ambiguous]
synonym: "cryptorchidism, unilateral or bilateral" RELATED [OMIM:219050]
synonym: "cryptorchism" EXACT [DOID:11383, MTHICD9_2006:752.51]
synonym: "undescended testes" EXACT [NCIT:C12326]
synonym: "undescended testicle" EXACT [DOID:11383]
synonym: "undescended testicles" EXACT [DOID:11383, NCIT:C12326]
synonym: "undescended testis" EXACT [DOID:11383, ICD9CM_2006:752.51, OMIM:219050]
xref: COHD:437655 {source="MONDO:equivalentTo"}
xref: DOID:11383 {source="EFO:0004562", source="MONDO:equivalentTo"}
xref: EFO:0004562 {source="MONDO:equivalentTo"}
xref: HP:0000028 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q53.9 {source="DOID:11383"}
xref: ICD9:752.5 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:752.51 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383", source="i2s"}
xref: MESH:D003456 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383", source="MONDO:ontobio"}
xref: NCIT:C12326 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:219050 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"}
xref: SCTID:204878001 {source="MONDO:equivalentTo", source="DOID:11383", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000839 {source="DOID:11383", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Redundant", source="NCIT:C12326/inferred", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! male reproductive system disease
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://identifiers.org/snomedct/127907005
property_value: closeMatch http://identifiers.org/snomedct/156967003
property_value: closeMatch http://identifiers.org/snomedct/204879009
property_value: closeMatch http://identifiers.org/snomedct/204882004
property_value: closeMatch http://identifiers.org/snomedct/268226005
property_value: closeMatch http://identifiers.org/snomedct/367721002
property_value: closeMatch http://identifiers.org/snomedct/37501009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010417
property_value: exactMatch DOID:11383
property_value: exactMatch http://identifiers.org/mesh/D003456
property_value: exactMatch http://identifiers.org/omim/219050
property_value: exactMatch http://identifiers.org/snomedct/204878001
property_value: exactMatch NCIT:C12326

[Term]
id: MONDO:0009048
name: curved nail of fourth toe
synonym: "claw-like fingers and toes" RELATED [OMIM:219070]
synonym: "curved nail of fourth toe" EXACT [OMIM:219070]
xref: OMIM:219070 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857452
property_value: exactMatch http://identifiers.org/omim/219070

[Term]
id: MONDO:0009049
name: Cushing syndrome due to macronodular adrenal hyperplasia
def: "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term)." [Orphanet:189427]
subset: gard_rare
subset: ordo_disease {source="Orphanet:189427"}
subset: prototype_pattern
synonym: "ACTH-independent Cushing syndrome" BROAD [MESH:C565662]
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427-definition]
synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "AIMAH" RELATED [GARD:0010824, MESH:C565662]
synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "massive macronodular adrenocortical disease" RELATED [GARD:0010824]
synonym: "MMAD" RELATED [GARD:0010824]
synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [Orphanet:189427]
synonym: "primary macronodular adrenal hyperplasia" RELATED [GARD:0010824]
xref: GARD:0010824 {source="MONDO:equivalentTo"}
xref: ICD10:E24.8 {source="ORDO:189427/attributed", source="ORDO:189427/ntbt", source="Orphanet:189427"}
xref: MESH:C565662 {source="MONDO:equivalentTo"}
xref: Orphanet:189427 {source="OMIM:219080", source="MONDO:equivalentTo", source="GARD:0010824"}
xref: SCTID:720459002 {source="MONDO:kboom-pr-1.00/0.79/8.53", source="MONDO:equivalentTo"}
xref: UMLS:C2062388 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN200644 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018387 {source="MONDO:Redundant", source="Orphanet:189427"} ! rare male infertility due to adrenal disorder
is_a: MONDO:0018406 {source="MONDO:Entailed", source="Orphanet:189427"} ! rare male infertility due to adrenal disorder of genetic origin
is_a: MONDO:0020529 {source="MONDO:cjm", source="MONDOLEX:0009049"} ! ACTH-independent Cushing syndrome
property_value: exactMatch http://identifiers.org/mesh/C565662
property_value: exactMatch http://identifiers.org/snomedct/720459002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2062388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200644
property_value: exactMatch Orphanet:189427
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia xsd:anyURI {source="GARD:0010824"}

[Term]
id: MONDO:0009050
name: Cushing disease due to pituitary adenoma
def: "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." []
subset: gard_rare {source="GARD:0012867"}
subset: ordo_disease {source="Orphanet:96253"}
synonym: "ACTH producing pituitary adenoma" EXACT [NCIT:C113210]
synonym: "ACTH-producing pituitary adenoma" EXACT EXCLUDE [DOID:7004]
synonym: "ACTH-secreting pituitary adenoma" RELATED [DOID:7004]
synonym: "corticotroph adenoma" EXACT [DOID:7004, MONDO:patterns/location]
synonym: "corticotroph pituitary adenoma" EXACT [Orphanet:96253]
synonym: "Corticotropinoma" EXACT [DOID:7004, NCIT:C7462]
synonym: "Cushing disease" RELATED [GARD:0012867]
synonym: "Cushing disease, pituitary" RELATED [OMIM:219090]
synonym: "Cushing's disease" RELATED [GARD:0012867]
synonym: "PITA4" RELATED [OMIM:219090]
synonym: "pituitary adenoma 4, ACTH-secreting" RELATED [OMIM:219090]
synonym: "pituitary adenoma 4, ACTH-secreting; PITA4" RELATED [OMIM:219090]
synonym: "pituitary adenoma, ACTH-secreting" RELATED [OMIM:219090]
synonym: "pituitary corticotroph micro-adenoma" EXACT [Orphanet:96253]
synonym: "pituitary dependent Cushing syndrome" RELATED [GARD:0012867]
synonym: "pituitary-dependent Cushing syndrome" EXACT [Orphanet:96253]
xref: DOID:7004 {source="MONDO:equivalentTo"}
xref: GARD:0012867 {source="MONDO:equivalentTo"}
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:96253/ntbt", source="Orphanet:96253"}
xref: ICD10:E24.0 {source="MONDO:relatedTo", source="ORDO:96253/e", source="Orphanet:96253"}
xref: MedDRA:10035109 {source="ORDO:96253/e", source="Orphanet:96253"}
xref: MESH:D049913 {source="DOID:7004", source="MONDO:equivalentTo"}
xref: NCIT:C113210 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.31/0.18"}
xref: OMIM:219090 {source="DOID:7004", source="MONDO:equivalentTo", source="ORDO:96253/e", source="Orphanet:96253"}
xref: Orphanet:96253 {source="OMIM:219090", source="MONDO:equivalentTo"}
xref: SCTID:254958004 {source="DOID:7004", source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0221406 {source="NCBI:mim2gene_medline", source="OMIM:219090", source="MONDO:equivalentTo", source="NCIT:C113210", source="ORDO:96253/e", source="Orphanet:96253"}
xref: UMLS:C1306214 {source="DOID:7004", source="OMIM:219090", source="MONDO:equivalentTo"}
is_a: MONDO:0003429 {source="DOID:7004", source="MONDOLEX:0009050", source="Orphanet:96253"} ! functioning pituitary gland adenoma
is_a: MONDO:0020528 {source="Orphanet:96253"} ! ACTH-dependent Cushing syndrome
is_a: MONDO:0021227 ! adrenal gland neoplasm
property_value: closeMatch http://identifiers.org/snomedct/21109002
property_value: exactMatch DOID:7004
property_value: exactMatch http://identifiers.org/meddra/10035109
property_value: exactMatch http://identifiers.org/mesh/D047748
property_value: exactMatch http://identifiers.org/mesh/D049913
property_value: exactMatch http://identifiers.org/omim/219090
property_value: exactMatch http://identifiers.org/snomedct/254958004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306214
property_value: exactMatch NCIT:C113210
property_value: exactMatch Orphanet:96253
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma xsd:anyURI {source="GARD:0012867"}

[Term]
id: MONDO:0009051
name: cutaneous photosensitivity-lethal colitis syndrome
def: "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991." [Orphanet:2881]
subset: ordo_disease {source="Orphanet:2881"}
synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [OMIM:219095]
synonym: "early cutaneous photosensitivity and severe colitis" RELATED [GARD:0001633]
xref: GARD:0001633 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L57.8 {source="Orphanet:2881", source="ORDO:2881/ntbt"}
xref: MESH:C536224 {source="Orphanet:2881", source="ORDO:2881/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219095 {source="Orphanet:2881", source="ORDO:2881/e", source="MONDO:equivalentTo"}
xref: Orphanet:2881 {source="MONDO:equivalentTo", source="OMIM:219095"}
xref: UMLS:C1857449 {source="Orphanet:2881", source="ORDO:2881/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:219095"}
is_a: MONDO:0005265 {source="Orphanet:2881"} ! inflammatory bowel disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015187"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536224
property_value: exactMatch http://identifiers.org/omim/219095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857449
property_value: exactMatch Orphanet:2881

[Term]
id: MONDO:0009052
name: cutis laxa, autosomal recessive, type 1A
def: "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." [DOID:0070135]
synonym: "ARCL1" BROAD [OMIM:219100]
synonym: "ARCL1A" EXACT [DOID:0070135, MONDO:Lexical, OMIM:219100]
synonym: "autosomal recessive cutis laxa type IA" RELATED [DOID:0070135]
synonym: "cutis laxa, autosomal recessive" RELATED [OMIM:219100]
synonym: "cutis laxa, autosomal recessive, type IA" RELATED [MONDO:Lexical, OMIM:219100]
synonym: "cutis laxa, autosomal recessive, type IA; ARCL1A" RELATED [OMIM:219100]
xref: DOID:0070135 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070135"}
xref: MESH:C562628 {source="MONDO:equivalentTo"}
xref: OMIM:219100 {source="DOID:0070135", source="MONDO:equivalentTo"}
xref: SCTID:59451000 {source="MONDO:equivalentTo"}
xref: UMLS:CN033664 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019572 {source="DOID:0070135", source="MONDOLEX:0009052", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268351
property_value: exactMatch DOID:0070135
property_value: exactMatch http://identifiers.org/mesh/C562628
property_value: exactMatch http://identifiers.org/omim/219100
property_value: exactMatch http://identifiers.org/snomedct/59451000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033664

[Term]
id: MONDO:0009053
name: ALDH18A1-related de Barsy syndrome
def: "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." [Orphanet:35664]
subset: ordo_etiological_subtype {source="Orphanet:35664"}
synonym: "ARCL3A" EXACT [DOID:0070132, MONDO:Lexical, OMIM:219150]
synonym: "autosomal recessive cutis laxa type IIIA" RELATED [DOID:0070132]
synonym: "cutis laxa, autosomal recessive, type 3A" RELATED [OMIM:219150]
synonym: "cutis laxa, autosomal recessive, type IIIA" RELATED [MONDO:Lexical, OMIM:219150]
synonym: "cutis laxa, autosomal recessive, type IIIA; ARCL3A" RELATED [OMIM:219150]
synonym: "cutis laxa, corneal clouding, and mental retardation" RELATED [OMIM:219150]
synonym: "De Barsy syndrome A" EXACT [DOID:0070132]
synonym: "De Barsy syndrome a" RELATED [OMIM:219150]
synonym: "Delta-1-pyrroline 5-carboxylate synthetase deficiency" EXACT [Orphanet:35664]
synonym: "neurocutaneous syndrome, Bicknell type" EXACT [Orphanet:35664]
synonym: "P5CS deficiency" BROAD [Orphanet:35664]
synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150]
xref: DOID:0070132 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070132"}
xref: ICD10:Q87.8 {source="ORDO:35664/attributed", source="ORDO:35664/ntbt", source="Orphanet:35664"}
xref: ICD9:371.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:219150 {source="DOID:0070132", source="MONDO:equivalentTo", source="ORDO:35664/e", source="Orphanet:35664"}
xref: Orphanet:35664 {source="DOID:0070132", source="MONDO:equivalentTo", source="OMIM:219150"}
xref: SCTID:59252009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.67/0.31/0.16"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016175 {source="DOID:0070132/inferred", source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred", source="linkedlifedata"} ! cutis laxa
is_a: MONDO:0017569 {source="DOID:0070132", source="MONDOLEX:0009053", source="Orphanet:35664"} ! de Barsy syndrome
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
property_value: exactMatch DOID:0070132
property_value: exactMatch http://identifiers.org/omim/219150
property_value: exactMatch http://identifiers.org/snomedct/59252009
property_value: exactMatch Orphanet:35664

[Term]
id: MONDO:0009054
name: autosomal recessive cutis laxa type 2, classic type
subset: ordo_clinical_subtype {source="Orphanet:357074"}
synonym: "ADCL2" EXACT [DOID:0070136]
synonym: "Arcl2" RELATED [OMIM:219200]
synonym: "ARCL2, classic type" EXACT [DOID:0070141, Orphanet:357074]
synonym: "ARCL2, DebrC) type" EXACT [Orphanet:357074]
synonym: "ARCL2, debre type" EXACT [DOID:0070141]
synonym: "ARCL2, Debré type" EXACT [Orphanet:357074]
synonym: "ARCL2A" RELATED [MONDO:Lexical, OMIM:219200]
synonym: "autosomal recessive cutis laxa type 2, DebrC) type" EXACT [Orphanet:357074]
synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:357074]
synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141]
synonym: "cutis laxa with bone dystrophy" RELATED [OMIM:219200]
synonym: "cutis laxa with congenital disorder of glycosylation" RELATED [OMIM:219200]
synonym: "cutis laxa with Growth and developmental delay" RELATED [OMIM:219200]
synonym: "cutis laxa with Joint laxity and retarded development" RELATED [OMIM:219200]
synonym: "cutis laxa, autosomal recessive type 2A" RELATED [GARD:0001638]
synonym: "cutis laxa, autosomal recessive, type 2A" RELATED [OMIM:219200]
synonym: "cutis laxa, autosomal recessive, type IIA" RELATED [MONDO:Lexical, OMIM:219200]
synonym: "cutis laxa, autosomal recessive, type IIA; ARCL2A" RELATED [OMIM:219200]
synonym: "cutis laxa, debre type" RELATED [OMIM:219200]
xref: DOID:0070136 {source="MONDO:equivalentTo"}
xref: DOID:0070141 {source="MONDO:equivalentTo"}
xref: GARD:0001638 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="DOID:0070141", source="ORDO:357074/attributed", source="ORDO:357074/ntbt", source="DOID:0070136", source="Orphanet:357074"}
xref: MESH:C562632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219200 {source="MONDO:equivalentTo", source="ORDO:357074/e", source="Orphanet:357074"}
xref: Orphanet:357074 {source="DOID:0070141", source="MONDO:equivalentTo", source="OMIM:219200"}
xref: SCTID:73856006 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"}
xref: UMLS:CN204606 {source="MONDO:equivalentTo"}
is_a: MONDO:0018163 {source="MONDOLEX:0009054", source="Orphanet:357074"} ! autosomal recessive cutis laxa type 2A
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268355
property_value: exactMatch DOID:0070136
property_value: exactMatch DOID:0070141
property_value: exactMatch http://identifiers.org/mesh/C562632
property_value: exactMatch http://identifiers.org/omim/219200
property_value: exactMatch http://identifiers.org/snomedct/73856006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204606
property_value: exactMatch Orphanet:357074

[Term]
id: MONDO:0009055
name: cutis marmorata telangiectatica congenita (disease)
def: "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin." [Orphanet:1556]
subset: ordo_malformation_syndrome {source="Orphanet:1556"}
synonym: "CMTC" EXACT [MONDO:Lexical, OMIM:219250, Orphanet:1556]
synonym: "cutis marmorata telangiectatica congenita" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:219250]
synonym: "cutis marmorata telangiectatica congenita; CMTC" RELATED [OMIM:219250]
synonym: "hereditary cutis marmorata telangiectatica congenita" RELATED [GARD:0006228]
synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228]
xref: GARD:0006228 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0025107 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q82.8 {source="ORDO:1556/ntbt", source="Orphanet:1556"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536226 {source="MONDO:equivalentTo", source="Orphanet:1556", source="ORDO:1556/e", source="MONDO:ontobio"}
xref: OMIM:219250 {source="MONDO:equivalentTo", source="Orphanet:1556", source="ORDO:1556/e"}
xref: Orphanet:1556 {source="MONDO:equivalentTo", source="OMIM:219250"}
xref: SCTID:254778000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.53"}
is_a: MONDO:0016231 {source="Orphanet:1556"} ! capillary malformation
is_a: MONDO:0019293 {source="MESH:C536226", source="Orphanet:1556", source="linkedlifedata/inferred"} ! skin vascular disease
property_value: exactMatch http://identifiers.org/mesh/C536226
property_value: exactMatch http://identifiers.org/omim/219250
property_value: exactMatch http://identifiers.org/snomedct/254778000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345419
property_value: exactMatch Orphanet:1556

[Term]
id: MONDO:0009056
name: cutis verticis gyrata and mental retardation
synonym: "cutis verticis gyrata and mental retardation" EXACT [MONDO:Lexical, OMIM:219300]
synonym: "cutis verticis gyrata and mental retardation; CVG/MR" RELATED [OMIM:219300]
synonym: "cutis verticis gyrata-intellectual disability syndrome" EXACT [Orphanet:1557]
synonym: "CVG/MR" RELATED [MONDO:Lexical, OMIM:219300]
xref: OMIM:219300 {source="MONDO:equivalentTo"}
xref: Orphanet:1557 {source="OMIM:219300", source="MONDO:equivalentTo"}
xref: UMLS:C1857444 {source="OMIM:219300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/219300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857444
property_value: exactMatch Orphanet:1557

[Term]
id: MONDO:0009057
name: cyanosis and hepatic disease
synonym: "cyanosis and hepatic disease" EXACT [OMIM:219400]
xref: MESH:C565660 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219400 {source="MONDO:equivalentTo"}
xref: UMLS:C1857443 {source="OMIM:219400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565660
property_value: exactMatch http://identifiers.org/omim/219400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857443

[Term]
id: MONDO:0009058
name: cystathioninuria (disease)
def: "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." [Orphanet:212]
subset: mostly_harmless {source="PMID:29884839"}
subset: ordo_disease {source="Orphanet:212"}
synonym: "cystathionase deficiency" EXACT [DOID:0090142, OMIM:219500, Orphanet:212]
synonym: "Cystathione gamma-lyase deficiency syndrome" EXACT [Orphanet:212]
synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [DOID:0090142]
synonym: "cystathioninuria" EXACT [MONDO:ambiguous, OMIM:219500]
synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, Orphanet:212]
xref: DOID:0090142 {source="MONDO:equivalentTo"}
xref: GARD:0002428 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:2428 {source="DOID:0090142"}
xref: HP:0003153 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E72.1 {source="DOID:0090142", source="ORDO:212/inclusion", source="ORDO:212/ntbt", source="Orphanet:212"}
xref: NCIT:C129070 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:219500 {source="DOID:0090142", source="MONDO:equivalentTo", source="ORDO:212/e", source="Orphanet:212"}
xref: Orphanet:212 {source="DOID:0090142", source="OMIM:219500", source="MONDO:equivalentTo"}
xref: SCTID:13003007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:C0220993 {source="DOID:0090142", source="OMIM:219500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129070", source="ORDO:212/e", source="Orphanet:212"}
xref: UMLS:C0268616 {source="DOID:0090142", source="MONDO:equivalentTo", source="ORDO:212/e", source="Orphanet:212", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3495552 {source="OMIM:219500", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019222 {source="Orphanet:212", source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
property_value: exactMatch DOID:0090142
property_value: exactMatch http://identifiers.org/mesh/C535408
property_value: exactMatch http://identifiers.org/omim/219500
property_value: exactMatch http://identifiers.org/snomedct/13003007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495552
property_value: exactMatch NCIT:C129070
property_value: exactMatch Orphanet:212

[Term]
id: MONDO:0009059
name: cysteine Peptiduria
synonym: "cysteine Peptiduria" EXACT [OMIM:219550]
xref: MESH:C565659 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:219550"}
is_a: MONDO:0003847 {source="MESH:C565659/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565659
property_value: exactMatch http://identifiers.org/omim/219550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857438

[Term]
id: MONDO:0009060
name: cystic disease of lung
synonym: "cystic disease of lung" EXACT [OMIM:219600]
xref: MESH:C563237 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219600 {source="MONDO:equivalentTo"}
xref: UMLS:C1384901 {source="OMIM:219600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563237
property_value: exactMatch http://identifiers.org/omim/219600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384901

[Term]
id: MONDO:0009061
name: cystic fibrosis
def: "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." [https://en.wikipedia.org/wiki/Cystic_fibrosis, Orphanet:586]
subset: gard_rare {source="GARD:0006233"}
subset: ordo_disease {source="Orphanet:586"}
synonym: "CF" EXACT [DOID:1485, MONDO:Lexical, OMIM:219700, Orphanet:586]
synonym: "cystic fibrosis" EXACT [MONDO:Lexical, OMIM:219700]
synonym: "cystic fibrosis; CF" RELATED [OMIM:219700]
synonym: "Mucoviscidosis" EXACT [OMIM:219700, Orphanet:586]
synonym: "mucoviscidosis" EXACT [DOID:1485]
xref: COHD:441267 {source="MONDO:equivalentTo"}
xref: DOID:1485 {source="MONDO:equivalentTo"}
xref: GARD:0006233 {source="MONDO:equivalentTo"}
xref: ICD10:E84 {source="DOID:1485", source="MONDO:equivalentTo"}
xref: ICD10:E84.0 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"}
xref: ICD10:E84.1 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"}
xref: ICD10:E84.8 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"}
xref: ICD10:E84.9 {source="DOID:1485", source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"}
xref: ICD9:277.0 {source="DOID:1485"}
xref: MedDRA:10011762 {source="ORDO:586/e", source="Orphanet:586"}
xref: MESH:D003550 {source="DOID:1485", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:586/e", source="Orphanet:586"}
xref: NCIT:C2975 {source="DOID:1485", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:219700 {source="DOID:1485", source="MONDO:equivalentTo", source="ORDO:586/e", source="Orphanet:586"}
xref: Orphanet:586 {source="OMIM:219700", source="MONDO:equivalentTo"}
xref: SCTID:190905008 {source="DOID:1485", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.98"}
xref: UMLS:C0010674 {source="DOID:1485", source="NCBI:mim2gene_medline", source="OMIM:219700", source="MONDO:equivalentTo", source="NCIT:C2975", source="ORDO:586/e", source="Orphanet:586"}
is_a: MONDO:0006025 {source="DOID:1485", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:586", source="indirect"} ! pancreas disease
relationship: excluded_subClassOf MONDO:0003847 {source="DOID:1485/inferred", source="MESH:D003550", source="MONDO:Redundant", source="NCIT:C2975", source="Orphanet:586/inferred"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:586"} ! respiratory system disease
relationship: excluded_subClassOf MONDO:0015509 {source="Orphanet:586"} ! genetic biliary tract disease
relationship: excluded_subClassOf MONDO:0018396 {source="Orphanet:586"} ! rare male fertility disorder with obstructive azoospermia
relationship: excluded_subClassOf MONDO:0018409 {source="Orphanet:586"} ! rare genetic disorder with obstructive azoospermia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015510", source="MONDO:0015618"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154767009
property_value: closeMatch http://identifiers.org/snomedct/190911006
property_value: closeMatch http://identifiers.org/snomedct/85809002
property_value: exactMatch DOID:1485
property_value: exactMatch http://identifiers.org/meddra/10011762
property_value: exactMatch http://identifiers.org/mesh/D003550
property_value: exactMatch http://identifiers.org/omim/219700
property_value: exactMatch http://identifiers.org/snomedct/190905008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010674
property_value: exactMatch NCIT:C2975
property_value: exactMatch Orphanet:586
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis xsd:anyURI {source="GARD:0006233"}

[Term]
id: MONDO:0009062
name: cystic fibrosis-gastritis-megaloblastic anemia syndrome
def: ", folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." [Orphanet:2575]
subset: ordo_disease {source="Orphanet:2575"}
synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303]
synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED [OMIM:219721]
synonym: "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" RELATED [GARD:0003303]
synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303]
synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575]
xref: GARD:0003303 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219721 {source="Orphanet:2575", source="ORDO:2575/e", source="MONDO:equivalentTo"}
xref: Orphanet:2575 {source="OMIM:219721", source="MONDO:equivalentTo"}
xref: SCTID:720401009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
is_a: MONDO:0015617 {source="Orphanet:2575"} ! genetic gastro-esophageal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806255
property_value: exactMatch http://identifiers.org/mesh/C537039
property_value: exactMatch http://identifiers.org/omim/219721
property_value: exactMatch http://identifiers.org/snomedct/720401009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931402
property_value: exactMatch Orphanet:2575

[Term]
id: MONDO:0009063
name: ventriculomegaly-cystic kidney disease
subset: ordo_disease {source="Orphanet:443988"}
synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphanet:443988]
synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730]
synonym: "ventriculomegaly with cystic kidney disease; VMCKD" RELATED [OMIM:219730]
synonym: "VMCKD" EXACT [MONDO:Lexical, OMIM:219730, Orphanet:443988]
xref: OMIM:219730 {source="MONDO:equivalentTo", source="ORDO:443988/e", source="Orphanet:443988"}
xref: Orphanet:443988 {source="MONDO:equivalentTo"}
xref: UMLS:C1857423 {source="OMIM:219730", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:443988"}
is_a: MONDO:0017120 {source="Orphanet:443988"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019741 {source="Orphanet:443988"} ! familial cystic renal disease
property_value: exactMatch http://identifiers.org/omim/219730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857423
property_value: exactMatch Orphanet:443988

[Term]
id: MONDO:0009064
name: ocular cystinosis
def: "Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." [Orphanet:411641]
subset: ordo_clinical_subtype {source="Orphanet:411641"}
synonym: "adult-onset cystinosis" EXACT [Orphanet:411641]
synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [OMIM:219750]
synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750]
synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750]
synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641]
xref: ICD10:E72.0 {source="Orphanet:411641", source="ORDO:411641/attributed", source="ORDO:411641/ntbt"}
xref: MESH:C535765 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219750 {source="Orphanet:411641", source="ORDO:411641/e", source="MONDO:equivalentTo"}
xref: Orphanet:411641 {source="MONDO:equivalentTo", source="OMIM:219750"}
xref: UMLS:C2931013 {source="Orphanet:411641", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:219750"}
is_a: MONDO:0016239 {source="MESH:C535765", source="Orphanet:411641"} ! cystinosis
is_a: MONDO:0020279 {source="Orphanet:411641"} ! metabolic disease with corneal opacity
is_a: MONDO:0020281 {source="Orphanet:411641"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857413
property_value: exactMatch http://identifiers.org/mesh/C535765
property_value: exactMatch http://identifiers.org/omim/219750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931013
property_value: exactMatch Orphanet:411641

[Term]
id: MONDO:0009065
name: obsolete cystinosis, nephropathic
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/960 xsd:string
is_obsolete: true
replaced_by: MONDO:0100151

[Term]
id: MONDO:0009066
name: juvenile nephropathic cystinosis
def: "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411634]
subset: ordo_clinical_subtype {source="Orphanet:411634"}
synonym: "cystinosis, intermediate" RELATED [OMIM:219900]
synonym: "cystinosis, late-onset juvenile or adolescent nephropathic type" RELATED [OMIM:219900]
synonym: "intermediate cystinosis" EXACT [Orphanet:411634]
synonym: "juvenile cystinosis" EXACT [Orphanet:411634]
xref: EFO:0009049 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0+ {source="Orphanet:411634", source="ORDO:411634/attributed", source="ORDO:411634/ntbt"}
xref: ICD10:N16.3* {source="Orphanet:411634", source="ORDO:411634/attributed", source="ORDO:411634/ntbt"}
xref: MESH:C562683 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:219900 {source="Orphanet:411634", source="ORDO:411634/e", source="MONDO:equivalentTo"}
xref: Orphanet:411634 {source="MONDO:equivalentTo", source="OMIM:219900"}
xref: SCTID:22830006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268626 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:411634", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:219900"}
is_a: MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0100151 {source="EFO:0009049", source="MESH:C562683", source="Orphanet:411634", source="linkedlifedata"} ! nephropathic cystinosis
property_value: exactMatch http://identifiers.org/mesh/C562683
property_value: exactMatch http://identifiers.org/omim/219900
property_value: exactMatch http://identifiers.org/snomedct/22830006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268626
property_value: exactMatch Orphanet:411634

[Term]
id: MONDO:0009067
name: cystinuria (disease)
def: "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." [Orphanet:214]
subset: gard_rare
subset: ordo_disease {source="Orphanet:214"}
synonym: "CSNU" RELATED [GARD:0006237, OMIM:220100]
synonym: "cystinuria" EXACT [MONDO:ambiguous, OMIM:220100]
synonym: "cystinuria, type a" RELATED [OMIM:220100]
synonym: "cystinuria, type A/B" RELATED [OMIM:220100]
synonym: "cystinuria, type B" RELATED [OMIM:220100]
synonym: "cystinuria, type I" RELATED [OMIM:220100]
synonym: "cystinuria, type I, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type II" RELATED [OMIM:220100]
synonym: "cystinuria, type II, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type III" RELATED [OMIM:220100]
synonym: "cystinuria, type III, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type non-I" RELATED [OMIM:220100]
synonym: "cystinuria, type non-I, formerly" RELATED [OMIM:220100]
synonym: "cystinuria-lysinuria" RELATED [GARD:0006237]
synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214]
xref: DOID:9266 {source="MONDO:equivalentTo"}
xref: GARD:0006237 {source="MONDO:equivalentTo"}
xref: HP:0003131 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E72.0 {source="Orphanet:214", source="ORDO:214/inclusion", source="ORDO:214/ntbt"}
xref: ICD10:E72.01 {source="DOID:9266"}
xref: MedDRA:10011778 {source="Orphanet:214", source="ORDO:214/e"}
xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="DOID:9266", source="ORDO:214/e"}
xref: NCIT:C84664 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9266"}
xref: OMIM:220100 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="DOID:9266", source="ORDO:214/e"}
xref: Orphanet:214 {source="GARD:0006237", source="MONDO:equivalentTo", source="OMIM:220100"}
xref: SCTID:85020001 {source="MONDO:equivalentTo", source="DOID:9266", source="MONDO:kboom-pr-0.74/0.47/0.06"}
xref: UMLS:C0010691 {source="GARD:0006237", source="Orphanet:214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220100", source="DOID:9266", source="NCIT:C84664", source="ORDO:214/e"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0009067"} ! syndromic disease
is_a: MONDO:0004736 {source="DOID:9266"} ! inherited amino acid metabolic disorder
is_a: MONDO:0015962 {source="Orphanet:214"} ! inherited renal tubular disease
is_a: MONDO:0019216 {source="Orphanet:214", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport
is_a: MONDO:0019744 {source="Orphanet:214"} ! rare renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/154738008
property_value: closeMatch http://identifiers.org/snomedct/267498002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857388
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857390
property_value: exactMatch DOID:9266
property_value: exactMatch http://identifiers.org/meddra/10011778
property_value: exactMatch http://identifiers.org/mesh/D003555
property_value: exactMatch http://identifiers.org/omim/220100
property_value: exactMatch http://identifiers.org/snomedct/85020001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268646
property_value: exactMatch NCIT:C84664
property_value: exactMatch Orphanet:214
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6237/cystinuria xsd:anyURI {source="GARD:0006237"}

[Term]
id: MONDO:0009068
name: cytochrome-c oxidase deficiency disease
def: "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." [NCIT:P378]
subset: gard_rare
subset: ordo_disease {source="Orphanet:254905"}
synonym: "Complex 4 mitochondrial respiratory chain deficiency" RELATED [GARD:0000048]
synonym: "Complex IV deficiency" RELATED [GARD:0000048]
synonym: "COX deficiency" RELATED [GARD:0000048]
synonym: "Cox deficiency" RELATED [OMIM:220110]
synonym: "cytochrome C oxidase deficiency" RELATED [OMIM:220110]
synonym: "cytochrome-C oxidase deficiency" EXACT [NCIT:C98910]
synonym: "deficiency of mitochondrial respiratory chain complex4" RELATED [GARD:0000048]
synonym: "isolated COX deficiency" EXACT [Orphanet:254905]
synonym: "isolated cytochrome C oxidase deficiency" RELATED [Orphanet:254905]
synonym: "isolated mitochondrial respiratory chain complex IV deficiency" EXACT [Orphanet:254905]
synonym: "mitochondrial Complex 4 deficiency" RELATED [OMIM:220110]
synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, OMIM:220110]
xref: DOID:3762 {source="MONDO:equivalentTo"}
xref: GARD:0000048 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:254905/attributed", source="ORDO:254905/ntbt", source="Orphanet:254905"}
xref: MESH:D030401 {source="DOID:3762", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98910 {source="DOID:3762", source="MONDO:kboom-pr-0.77/0.39/0.73", source="MONDO:equivalentTo"}
xref: OMIM:220110 {source="DOID:3762", source="GARD:0000048", source="MONDO:equivalentTo", source="Orphanet:254905", source="ORDO:254905/e"}
xref: Orphanet:254905 {source="MONDO:equivalentTo", source="OMIM:220110"}
xref: SCTID:67434000 {source="DOID:3762", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.48"}
xref: UMLS:C0268237 {source="DOID:3762", source="GARD:0000048", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220110", source="NCIT:C98910", source="Orphanet:254905"}
is_a: MONDO:0000066 {source="DC-OMIM:220110"} ! mitochondrial complex deficiency
is_a: MONDO:0016805 {source="Orphanet:254905"} ! isolated oxidative phosphorylation complex disorder
property_value: closeMatch http://identifiers.org/snomedct/124199009
property_value: closeMatch http://identifiers.org/snomedct/237991006
property_value: exactMatch DOID:3762
property_value: exactMatch http://identifiers.org/mesh/D030401
property_value: exactMatch http://identifiers.org/omim/220110
property_value: exactMatch http://identifiers.org/snomedct/67434000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268237
property_value: exactMatch NCIT:C98910
property_value: exactMatch Orphanet:254905

[Term]
id: MONDO:0009069
name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
def: "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." [Orphanet:70472]
subset: ordo_disease {source="Orphanet:70472"}
synonym: "Cox deficiency, French Canadian type" RELATED [OMIM:220111]
synonym: "COX deficiency, French-Canadian type" EXACT [Orphanet:70472]
synonym: "Cox deficiency, Saguenay Lac saint Jean type" RELATED [GARD:0008370]
synonym: "Cox deficiency, Saguenay-Lac-Saint-Jean type" RELATED [OMIM:220111]
synonym: "cytochrome C oxidase deficiency, French Canadian type" RELATED [OMIM:220111]
synonym: "cytochrome C oxidase deficiency, French-Canadian type" EXACT [Orphanet:70472]
synonym: "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" EXACT [Orphanet:70472]
synonym: "Leigh syndrome, French Canadian type" RELATED [MONDO:Lexical, OMIM:220111]
synonym: "Leigh syndrome, French Canadian type; LSFC" RELATED [OMIM:220111]
synonym: "Leigh syndrome, French-Canadian type" EXACT [Orphanet:70472]
synonym: "Leigh syndrome, Saguenay Lac saint Jean type" RELATED [GARD:0008370]
synonym: "Leigh syndrome, Saguenay-Lac-Saint-Jean type" EXACT [OMIM:220111, Orphanet:70472]
synonym: "LSFC" RELATED [MONDO:Lexical, OMIM:220111]
synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472]
xref: GARD:0008370 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="Orphanet:70472", source="ORDO:70472/attributed", source="ORDO:70472/ntbt"}
xref: MESH:C537004 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="ORDO:70472/e"}
xref: Orphanet:70472 {source="MONDO:equivalentTo", source="OMIM:220111"}
xref: SCTID:718219002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0009723 {source="DC-OMIM:220111", source="MESH:C537004", source="Orphanet:70472"} ! Leigh syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857355
property_value: exactMatch http://identifiers.org/mesh/C537004
property_value: exactMatch http://identifiers.org/omim/220111
property_value: exactMatch http://identifiers.org/snomedct/718219002
property_value: exactMatch Orphanet:70472

[Term]
id: MONDO:0009070
name: D-glyceric aciduria
def: "gene has been mapped to 3p21." [Orphanet:941]
subset: ordo_disease {source="Orphanet:941"}
synonym: "D-glycerate kinase deficiency" EXACT [Orphanet:941]
synonym: "D-glyceric acidemia" EXACT [OMIM:220120, Orphanet:941]
synonym: "d-glyceric aciduria" EXACT [OMIM:220120]
synonym: "D-glycericacidemia" RELATED [GARD:0000234]
synonym: "glycerate kinase deficiency" RELATED [OMIM:220120]
synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234]
xref: GARD:0000234 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.8 {source="Orphanet:941", source="ORDO:941/attributed", source="ORDO:941/ntbt"}
xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:941/e"}
xref: NCIT:C128804 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:220120 {source="Orphanet:941", source="MONDO:equivalentTo", source="ORDO:941/e"}
xref: Orphanet:941 {source="MONDO:equivalentTo", source="OMIM:220120"}
xref: SCTID:237980004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342765 {source="MONDO:equivalentTo", source="OMIM:220120", source="NCIT:C128804"}
xref: UMLS:C1291386 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220120", source="ORDO:941/e"}
is_a: MONDO:0017703 {source="Orphanet:941"} ! disorder of glyoxylate metabolism
property_value: exactMatch http://identifiers.org/mesh/C535767
property_value: exactMatch http://identifiers.org/omim/220120
property_value: exactMatch http://identifiers.org/snomedct/237980004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291386
property_value: exactMatch NCIT:C128804
property_value: exactMatch Orphanet:941

[Term]
id: MONDO:0009071
name: hereditary renal hypouricemia
def: "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." [Orphanet:94088]
subset: ordo_malformation_syndrome {source="Orphanet:94088"}
synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150]
synonym: "hypouricemia, renal" RELATED [GARD:0009496]
synonym: "renal hypouricemia" RELATED [OMIM:220150]
xref: GARD:0009496 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"}
xref: SCTID:236478009 {source="MONDO:kboom-pr-1.00/0.74/5.93", source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:94088"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:94088"} ! rare renal tubular disease
property_value: exactMatch http://identifiers.org/mesh/C537757
property_value: exactMatch http://identifiers.org/snomedct/236478009
property_value: exactMatch Orphanet:94088

[Term]
id: MONDO:0009072
name: Dandy-Walker syndrome
def: "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." [Orphanet:217]
subset: ordo_morphological_anomaly {source="Orphanet:217"}
synonym: "atresia of foramina of Magendie and Luschka" EXACT [DOID:2785, MTHICD9_2006:742.3]
synonym: "Dandy-Walker complex" RELATED [GARD:0006242]
synonym: "Dandy-Walker malformation" RELATED [OMIM:220200]
synonym: "Dandy-Walker syndrome" EXACT [MONDO:Lexical, OMIM:220200]
synonym: "Dandy-Walker syndrome or malformation (type of DW complex)" RELATED [GARD:0006242]
synonym: "Dandy-Walker syndrome; DWS" RELATED [OMIM:220200]
synonym: "Dandy-Walker variant (type of DW complex)" RELATED [GARD:0006242]
synonym: "DW complex" RELATED [GARD:0006242]
synonym: "DWS" RELATED [MONDO:Lexical, OMIM:220200]
synonym: "isolated Dandy-Walker malformation" RELATED [Orphanet:217]
synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242]
xref: COHD:4031189 {source="MONDO:equivalentTo"}
xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"}
xref: EFO:1000890 {source="MONDO:equivalentTo"}
xref: GARD:0006242 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q03.1 {source="DOID:2785", source="Orphanet:217", source="ORDO:217/inclusion", source="ORDO:217/ntbt"}
xref: MedDRA:10048411 {source="EFO:1000890"}
xref: MESH:D003616 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75012 {source="DOID:2785", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:220200 {source="ORDO:217/e", source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo"}
xref: Orphanet:217 {source="MONDO:equivalentTo", source="OMIM:220200"}
xref: SCTID:14447001 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0010964 {source="DOID:2785", source="NCBI:mim2gene_medline", source="Orphanet:217", source="MONDO:equivalentTo", source="NCIT:C75012", source="OMIM:220200"}
is_a: MONDO:0002427 {source="DOID:2785", source="MESH:D003616", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! cerebellar disease
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:217", source="Orphanet:217/inferred"} ! genetic nervous system disorder
is_a: MONDO:0020130 {source="Orphanet:217"} ! malformation of the cerebellar vermis
is_a: MONDO:0020134 {source="Orphanet:217", source="linkedlifedata"} ! cystic malformation of the posterior fossa
property_value: closeMatch http://identifiers.org/meddra/10048411
property_value: closeMatch http://identifiers.org/snomedct/204063009
property_value: exactMatch DOID:2785
property_value: exactMatch http://identifiers.org/mesh/D003616
property_value: exactMatch http://identifiers.org/omim/220200
property_value: exactMatch http://identifiers.org/snomedct/14447001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010964
property_value: exactMatch NCIT:C75012
property_value: exactMatch Orphanet:217

[Term]
id: MONDO:0009073
name: Ritscher-Schinzel syndrome 1
def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3C syndrome" RELATED [OMIM:220210]
synonym: "Craniocerebellocardiac dysplasia" RELATED [OMIM:220210]
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [OMIM:220210]
synonym: "Ritscher-Schinzel syndrome" RELATED [MONDO:Lexical, OMIM:220210]
synonym: "Ritscher-Schinzel syndrome 1; RTSC1" RELATED [OMIM:220210]
synonym: "Ritscher-Schinzel syndrome caused by mutation in WASHC5" EXACT [MONDO:design_pattern]
synonym: "Ritscher-Schinzel syndrome type 1" EXACT [DOID:0060571, MONDORULE:1]
synonym: "Ritscher-Schinzel syndrome; RTSC" RELATED [OMIM:220210]
synonym: "RTSC" RELATED [MONDO:Lexical, OMIM:220210]
synonym: "RTSC1" RELATED [OMIM:220210]
synonym: "WASHC5 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060571 {source="MONDO:equivalentTo"}
xref: OMIM:220210 {source="DOID:0060571", source="MONDO:equivalentTo"}
is_a: MONDO:0019078 {source="DC-OMIM:220210", source="DOID:0060571", source="MONDO:Redundant", source="OMIM:220210"} ! Ritscher-Schinzel syndrome
property_value: exactMatch DOID:0060571
property_value: exactMatch http://identifiers.org/omim/220210

[Term]
id: MONDO:0009074
name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
def: "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." [Orphanet:1970]
subset: ordo_malformation_syndrome {source="Orphanet:1970"}
synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219]
xref: ICD10:Q87.8 {source="Orphanet:1970", source="ORDO:1970/attributed", source="ORDO:1970/ntbt"}
xref: MESH:C535985 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:220219 {source="Orphanet:1970", source="ORDO:1970/e", source="MONDO:equivalentTo"}
xref: Orphanet:1970 {source="OMIM:220219", source="MONDO:equivalentTo"}
xref: UMLS:C1857352 {source="OMIM:220219", source="Orphanet:1970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1970", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1970"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017121 {source="Orphanet:1970"} ! syndrome with a Dandy-Walker malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C535985
property_value: exactMatch http://identifiers.org/omim/220219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857352
property_value: exactMatch Orphanet:1970

[Term]
id: MONDO:0009075
name: Dandy-Walker malformation-postaxial polydactyly syndrome
def: "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." [Orphanet:1566]
subset: ordo_malformation_syndrome {source="Orphanet:1566"}
synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:220220]
synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566]
synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566]
xref: GARD:0001669 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1566/attributed", source="ORDO:1566/ntbt", source="Orphanet:1566"}
xref: MESH:C535771 {source="ORDO:1566/e", source="MONDO:equivalentTo", source="Orphanet:1566", source="MONDO:ontobio"}
xref: OMIM:220220 {source="ORDO:1566/e", source="MONDO:equivalentTo", source="Orphanet:1566"}
xref: Orphanet:1566 {source="MONDO:equivalentTo", source="OMIM:220220"}
xref: SCTID:733094005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857351 {source="ORDO:1566/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220220", source="Orphanet:1566", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017121 {source="Orphanet:1566"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0017434 {source="Orphanet:1566"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:1566", source="Orphanet:1566/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C535771
property_value: exactMatch http://identifiers.org/omim/220220
property_value: exactMatch http://identifiers.org/snomedct/733094005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857351
property_value: exactMatch Orphanet:1566

[Term]
id: MONDO:0009076
name: autosomal recessive nonsyndromic deafness 1A
def: "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." [NCIT:C129022]
subset: gard_rare
synonym: "autosomal recessive deafness 1A" EXACT [DOID:0110475]
synonym: "autosomal recessive nonsyndromic deafness type 1A" EXACT [DOID:0110475, MONDORULE:4]
synonym: "connexin 26 deafness" RELATED [GARD:0001697]
synonym: "deafness nonsyndromic, connexin 26 linked" RELATED [GARD:0001697]
synonym: "deafness, autosomal recessive 1A" RELATED [MONDO:Lexical, OMIM:220290]
synonym: "deafness, autosomal recessive 1A; DFNB1A" RELATED [OMIM:220290]
synonym: "deafness, autosomal recessive type 1A" EXACT [MONDORULE:4, OMIM:220290]
synonym: "deafness, digenic, Gjb2/Gjb3" RELATED [OMIM:220290]
synonym: "deafness, digenic, Gjb2/Gjb6" RELATED [OMIM:220290]
synonym: "DFNB1" RELATED [GARD:0001697]
synonym: "DFNB1A" EXACT [DOID:0110475, MONDO:Lexical, OMIM:220290]
synonym: "GJB2-related deafness" RELATED [GARD:0001697]
xref: DOID:0110475 {source="MONDO:equivalentTo"}
xref: GARD:0001697 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110475"}
xref: MESH:C567134 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129022 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:220290 {source="GARD:0001697", source="MONDO:equivalentTo", source="DOID:0110475"}
is_a: MONDO:0019588 {source="DC-OMIM:220290", source="DOID:0110475", source="OMIM:220290"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673759
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673760
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673761
property_value: exactMatch DOID:0110475
property_value: exactMatch http://identifiers.org/mesh/C567134
property_value: exactMatch http://identifiers.org/omim/220290
property_value: exactMatch NCIT:C129022
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1697/dfnb1 xsd:anyURI {source="GARD:0001697"}

[Term]
id: MONDO:0009077
name: deafness, congenital, and familial myoclonic epilepsy
synonym: "deafness, congenital, and familial myoclonic epilepsy" EXACT [OMIM:220300]
xref: MESH:C565649 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:220300 {source="MONDO:equivalentTo"}
xref: UMLS:C1857348 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220300"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565649
property_value: exactMatch http://identifiers.org/omim/220300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857348

[Term]
id: MONDO:0009078
name: Jervell and Lange-Nielsen syndrome
def: "Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias." [Orphanet:90647]
subset: ordo_clinical_subtype {source="Orphanet:90647"}
subset: prototype_pattern
synonym: "Jervell and Lange Nielsen syndrome" EXACT [NCIT:C84793]
synonym: "Jervell and Lange-Nielsen syndrome 1" RELATED [MONDO:Lexical, OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome type 1" EXACT [MONDORULE:1, OMIM:220400]
synonym: "JLNS1" RELATED [MONDO:Lexical, OMIM:220400]
synonym: "long QT interval-deafness syndrome" EXACT [Orphanet:90647]
xref: ICD10:I45.8 {source="ORDO:90647/attributed", source="ORDO:90647/ntbt", source="Orphanet:90647"}
xref: MedDRA:10057936 {source="ORDO:90647/e", source="Orphanet:90647"}
xref: NCIT:C84793 {source="MONDO:kboom-pr-1.00/0.75/6.60", source="MONDO:equivalentTo"}
xref: OMIMPS:220400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:90647 {source="MONDO:equivalentTo", source="OMIM:220400"}
xref: SCTID:373905003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022387 {source="MONDO:equivalentTo", source="NCIT:C84793", source="OMIM:220400", source="ORDO:90647/e", source="Orphanet:90647"}
is_a: MONDO:0002441 {source="DC-OMIM:220400"} ! Jervell-Lange Nielsen syndrome
is_a: MONDO:0019171 {source="MONDO:Redundant", source="Orphanet:90647", source="linkedlifedata", source="linkedlifedata/inferred"} ! familial long QT syndrome
is_a: MONDO:0019589 {source="Orphanet:90647"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/meddra/10057936
property_value: exactMatch http://identifiers.org/snomedct/373905003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022387
property_value: exactMatch NCIT:C84793
property_value: exactMatch Orphanet:90647

[Term]
id: MONDO:0009079
name: DOORS syndrome
def: "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." [Orphanet:79500, PMID:24291220, PMID:24729539, PMID:24729547, PMID:25557349, PMID:25769375, PMID:26371875]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:79500"}
synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [Orphanet:79500]
synonym: "brachydactyly due to absence of distal phalanges" RELATED [OMIM:220500]
synonym: "deafness onychodystrophy osteodystrophy and mental retardation syndrome" RELATED [GARD:0001685]
synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" RELATED [MONDO:Lexical, OMIM:220500]
synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; DOORS" RELATED [OMIM:220500]
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [Orphanet:79500]
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [Orphanet:79500]
synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [GARD:0001685, Orphanet:79500]
synonym: "Digitorenocerebral syndrome" RELATED [GARD:0001685, OMIM:220500]
synonym: "door syndrome" EXACT [GARD:0001685, OMIM:220500, Orphanet:79500]
synonym: "DOORS" RELATED [MONDO:Lexical, OMIM:220500]
synonym: "DOORS syndrome" EXACT [GARD:0001685]
synonym: "drc syndrome" RELATED [OMIM:220500]
synonym: "Eronen syndrome" RELATED [OMIM:220500]
xref: GARD:0001685 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:79500/attributed", source="ORDO:79500/ntbt", source="Orphanet:79500"}
xref: MESH:C563052 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:220500 {source="GARD:0001685", source="MONDO:equivalentTo", source="ORDO:79500/e", source="Orphanet:79500"}
xref: Orphanet:79500 {source="GARD:0001685", source="MONDO:equivalentTo", source="OMIM:220500"}
xref: SCTID:719800009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0017922 {source="Orphanet:79500"} ! deafness-onychodystrophy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795927
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795934
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857345
property_value: exactMatch http://identifiers.org/mesh/C563052
property_value: exactMatch http://identifiers.org/omim/220500
property_value: exactMatch http://identifiers.org/snomedct/719800009
property_value: exactMatch Orphanet:79500
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome xsd:anyURI {source="GARD:0001685"}

[Term]
id: MONDO:0009080
name: split hand-foot malformation 1 with sensorineural hearing loss
def: "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." [Orphanet:71271]
comment: DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features
subset: ordo_malformation_syndrome {source="Orphanet:71271"}
synonym: "congenital deafness with split hands and feet" EXACT [DOID:0090024]
synonym: "deafness, congenital, with split hands and feet" RELATED [OMIM:220600]
synonym: "SHFM1D" EXACT [DOID:0090024, MONDO:Lexical, OMIM:220600]
synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271]
synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600]
synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; SHFM1D" RELATED [OMIM:220600]
xref: DOID:0090024 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:71271/attributed", source="ORDO:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"}
xref: MESH:C565647 {source="MONDO:equivalentTo"}
xref: OMIM:220600 {source="MONDO:equivalentTo", source="DOID:0090024", source="ORDO:71271/e", source="Orphanet:71271"}
xref: Orphanet:71271 {source="MONDO:equivalentTo", source="DOID:0090024", source="OMIM:220600"}
xref: SCTID:723611008 {source="MONDO:equivalentTo"}
xref: UMLS:C1857344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220600", source="Orphanet:71271"}
is_a: MONDO:0017432 {source="Orphanet:71271"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:71271"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019589 {source="Orphanet:71271"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:71271"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0090024
property_value: exactMatch http://identifiers.org/mesh/C565647
property_value: exactMatch http://identifiers.org/omim/220600
property_value: exactMatch http://identifiers.org/snomedct/723611008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857344
property_value: exactMatch Orphanet:71271

[Term]
id: MONDO:0009081
name: deafness, congenital, with total albinism
synonym: "deafness, congenital, with total albinism" EXACT [OMIM:220900]
xref: MESH:C565646 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:220900 {source="MONDO:equivalentTo"}
xref: UMLS:C1857343 {source="OMIM:220900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019290 ! hypopigmentation of the skin (disease)
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C565646
property_value: exactMatch http://identifiers.org/omim/220900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857343

[Term]
id: MONDO:0009082
name: high myopia-sensorineural deafness syndrome
def: "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." [Orphanet:363396]
subset: ordo_disease {source="Orphanet:363396"}
synonym: "deafness and myopia" RELATED [MONDO:Lexical, OMIM:221200]
synonym: "deafness and myopia syndrome" RELATED [GARD:0012844]
synonym: "deafness and myopia; DFNMYP" RELATED [OMIM:221200]
synonym: "DFNMYP" RELATED [MONDO:Lexical, OMIM:221200]
xref: GARD:0012844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H90.5 {source="Orphanet:363396", source="ORDO:363396/attributed", source="ORDO:363396/ntbt"}
xref: OMIM:221200 {source="ORDO:363396/e", source="Orphanet:363396", source="MONDO:equivalentTo"}
xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"}
xref: SCTID:720506002 {source="MONDO:equivalentTo"}
xref: UMLS:CN204687 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:363396"} ! syndromic genetic deafness
is_a: MONDO:0020208 {source="Orphanet:363396"} ! syndromic myopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857342
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806275
property_value: exactMatch http://identifiers.org/omim/221200
property_value: exactMatch http://identifiers.org/snomedct/720506002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204687
property_value: exactMatch Orphanet:363396

[Term]
id: MONDO:0009083
name: conductive deafness-malformed external ear syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3216"}
synonym: "conductive deafness - malformed external ear" RELATED [GARD:0001460]
synonym: "conductive deafness with malformed external ear" RELATED [GARD:0001460]
synonym: "conductive hearing loss and malformed low-set ears" RELATED [GARD:0001460]
synonym: "conductive hearing loss-malformed external ear syndrome" EXACT [Orphanet:3216]
synonym: "deafness, conductive, with malformed external EAR" RELATED [OMIM:221300]
synonym: "Ear deformity and conductive hearing loss" RELATED [GARD:0001460]
synonym: "familial congenital moderate neural hearing loss" RELATED [GARD:0001460]
synonym: "Mengel-Konigsmark syndrome" EXACT [Orphanet:3216]
xref: GARD:0001460 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C565644 {source="MONDO:equivalentTo"}
xref: OMIM:221300 {source="ORDO:3216/e", source="MONDO:equivalentTo", source="Orphanet:3216"}
xref: Orphanet:3216 {source="MONDO:equivalentTo", source="OMIM:221300"}
xref: UMLS:C1857341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3216", source="OMIM:221300", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019589 {source="Orphanet:3216"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931454
property_value: exactMatch http://identifiers.org/mesh/C565644
property_value: exactMatch http://identifiers.org/omim/221300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857341
property_value: exactMatch Orphanet:3216

[Term]
id: MONDO:0009084
name: conductive deafness-ptosis-skeletal anomalies syndrome
def: "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." [Orphanet:3236]
subset: ordo_malformation_syndrome {source="Orphanet:3236"}
synonym: "deafness conductive ptosis skeletal anomalies" RELATED [GARD:0000305]
synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMIM:221320]
synonym: "Jackson Barr syndrome" RELATED [GARD:0000305]
synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236]
xref: GARD:0000305 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535993 {source="ORDO:3236/e", source="Orphanet:3236", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221320 {source="ORDO:3236/e", source="Orphanet:3236", source="MONDO:equivalentTo"}
xref: Orphanet:3236 {source="MONDO:equivalentTo", source="OMIM:221320"}
xref: SCTID:763213001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857340 {source="ORDO:3236/e", source="NCBI:mim2gene_medline", source="Orphanet:3236", source="MONDO:equivalentTo", source="OMIM:221320", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019287 {source="Orphanet:3236"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535993
property_value: exactMatch http://identifiers.org/omim/221320
property_value: exactMatch http://identifiers.org/snomedct/763213001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857340
property_value: exactMatch Orphanet:3236

[Term]
id: MONDO:0009085
name: deafness-vitiligo-achalasia syndrome
def: "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." [Orphanet:3239]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3239"}
synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705]
synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705]
synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350]
xref: GARD:0001705 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3239/attributed", source="ORDO:3239/ntbt", source="Orphanet:3239"}
xref: MESH:C565642 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="ORDO:3239/e", source="GARD:0001705"}
xref: Orphanet:3239 {source="OMIM:221350", source="MONDO:equivalentTo", source="GARD:0001705"}
xref: UMLS:C1857339 {source="NCBI:mim2gene_medline", source="OMIM:221350", source="MONDO:equivalentTo", source="Orphanet:3239"}
is_a: MONDO:0019589 {source="Orphanet:3239"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C565642
property_value: exactMatch http://identifiers.org/omim/221350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857339
property_value: exactMatch Orphanet:3239
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia xsd:anyURI {source="GARD:0001705"}

[Term]
id: MONDO:0009086
name: deafness-small bowel diverticulosis-neuropathy syndrome
def: "Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." [Orphanet:3217]
subset: ordo_disease {source="Orphanet:3217"}
synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [OMIM:221400]
synonym: "Groll Hirschowitz syndrome" RELATED [GARD:0002568]
synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217]
synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568]
xref: GARD:0002568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537305 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="ORDO:3217/e"}
xref: Orphanet:3217 {source="MONDO:equivalentTo", source="OMIM:221400"}
xref: SCTID:733071009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3217", source="OMIM:221400"}
is_a: MONDO:0019589 {source="Orphanet:3217"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C537305
property_value: exactMatch http://identifiers.org/omim/221400
property_value: exactMatch http://identifiers.org/snomedct/733071009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857338
property_value: exactMatch Orphanet:3217

[Term]
id: MONDO:0009087
name: deafness, neural, congenital moderate
synonym: "deafness, neural, congenital moderate" EXACT [OMIM:221500]
xref: MESH:C565640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221500 {source="MONDO:equivalentTo"}
xref: UMLS:C1857337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565640
property_value: exactMatch http://identifiers.org/omim/221500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857337

[Term]
id: MONDO:0009088
name: deafness, neural, with atypical atopic dermatitis
synonym: "deafness, neural, with atypical atopic dermatitis" EXACT [OMIM:221700]
xref: MESH:C565639 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221700 {source="MONDO:equivalentTo"}
xref: UMLS:C1857334 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221700"}
is_a: MONDO:0003847 {source="MESH:C565639/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565639
property_value: exactMatch http://identifiers.org/omim/221700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857334

[Term]
id: MONDO:0009089
name: deafness-oligodontia syndrome
def: "Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." [Orphanet:3230]
subset: gard_rare {source="GARD:0001698"}
subset: ordo_malformation_syndrome {source="Orphanet:3230"}
synonym: "autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" RELATED [GARD:0001698]
synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [GARD:0001698]
synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698]
synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740]
xref: GARD:0001698 {source="MONDO:equivalentTo"}
xref: MESH:C538049 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3230/e", source="Orphanet:3230"}
xref: OMIM:221740 {source="MONDO:equivalentTo", source="ORDO:3230/e", source="Orphanet:3230"}
xref: Orphanet:3230 {source="MONDO:equivalentTo", source="OMIM:221740"}
xref: UMLS:C1857333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221740", source="ORDO:3230/e", source="Orphanet:3230"}
is_a: MONDO:0015336 {source="Orphanet:3230"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019589 {source="Orphanet:3230"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C538049
property_value: exactMatch http://identifiers.org/omim/221740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857333
property_value: exactMatch Orphanet:3230
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome xsd:anyURI {source="GARD:0001698"}

[Term]
id: MONDO:0009090
name: deafness, sensorineural, autosomal-mitochondrial type
synonym: "deafness, sensorineural, autosomal-mitochondrial type" EXACT [OMIM:221745]
xref: MESH:C565637 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221745 {source="MONDO:equivalentTo"}
is_a: MONDO:0010779 {source="ORDO:90641/btnt"} ! mitochondrial non-syndromic sensorineural deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857332
property_value: exactMatch http://identifiers.org/mesh/C565637
property_value: exactMatch http://identifiers.org/omim/221745

[Term]
id: MONDO:0009091
name: non-acquired combined pituitary hormone deficiency with spine abnormalities
def: "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." [Orphanet:231720]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:231720"}
synonym: "CPHD3" RELATED [GARD:0010603, MONDO:Lexical, OMIM:221750]
synonym: "Deafness, sensorineural with pituitary dwarfism" RELATED [GARD:0010603]
synonym: "deafness, sensorineural, with pituitary dwarfism" RELATED [OMIM:221750]
synonym: "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [Orphanet:231720]
synonym: "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" RELATED [Orphanet:231720]
synonym: "Pituitary hormone deficiency, combined with rigid cervical spine" RELATED [GARD:0010603]
synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical, OMIM:221750]
synonym: "pituitary hormone deficiency, combined, 3; CPHD3" RELATED [OMIM:221750]
synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1, OMIM:221750]
synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [OMIM:221750]
synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603]
xref: GARD:0010603 {source="MONDO:equivalentTo"}
xref: MESH:C536710 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="ORDO:231720/e", source="GARD:0010603"}
xref: Orphanet:231720 {source="MONDO:equivalentTo", source="OMIM:221750"}
xref: UMLS:C3489787 {source="MONDO:equivalentTo", source="OMIM:221750"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="MONDOLEX:0009091", source="OMIM:221750"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0019827 {source="Orphanet:231720"} ! disease associated with non-acquired combined pituitary hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857330
property_value: closeMatch Orphanet:3228
property_value: exactMatch http://identifiers.org/mesh/C536710
property_value: exactMatch http://identifiers.org/omim/221750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489787
property_value: exactMatch Orphanet:231720

[Term]
id: MONDO:0009092
name: Nasu-Hakola disease
def: "Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." [Orphanet:2770]
subset: ordo_malformation_syndrome {source="Orphanet:2770"}
synonym: "brain-bone-fat disease" RELATED [OMIM:221770]
synonym: "dementia, prefrontal, with bone cysts" RELATED [OMIM:221770]
synonym: "dementia, progressive, with lipomembranous polycystic osteodysplasia" RELATED [OMIM:221770]
synonym: "Nasu-Hakola disease" EXACT [OMIM:221770]
synonym: "NHD" EXACT [DOID:0090112, Orphanet:2770]
synonym: "PLO-SL" EXACT [DOID:0090112, Orphanet:2770]
synonym: "PLOSL" EXACT [DOID:0090112, Orphanet:2770]
synonym: "PLOSL" RELATED [MONDO:Lexical, OMIM:221770]
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770]
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL" RELATED [OMIM:221770]
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" EXACT [OMIMPS:221770]
synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112, OMIM:221770]
synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [DOID:0090112]
xref: DOID:0090112 {source="MONDO:equivalentTo"}
xref: GARD:0009921 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:9921 {source="DOID:0090112"}
xref: ICD10:E75.2 {source="Orphanet:2770", source="DOID:0090112", source="ORDO:2770/attributed", source="ORDO:2770/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:221770 {source="MONDO:equivalentTo"}
xref: Orphanet:2770 {source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770"}
xref: SCTID:702347001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1857316 {source="Orphanet:2770", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770", source="ORDO:2770/e"}
is_a: MONDO:0006025 {source="DOID:0090112", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0019046 {source="Orphanet:2770"} ! leukodystrophy
is_a: MONDO:0019707 {source="Orphanet:2770"} ! primary osteolysis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0090112
property_value: exactMatch http://identifiers.org/mesh/C536329
property_value: exactMatch http://identifiers.org/omim/221770
property_value: exactMatch http://identifiers.org/snomedct/702347001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857316
property_value: exactMatch Orphanet:2770

[Term]
id: MONDO:0009093
name: dermatoleukodystrophy
def: "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." [Orphanet:1659]
subset: gard_rare {source="GARD:0001813"}
subset: ordo_disease {source="Orphanet:1659"}
synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790]
xref: GARD:0001813 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:1659/attributed", source="ORDO:1659/ntbt", source="Orphanet:1659"}
xref: MESH:C538220 {source="MONDO:equivalentTo", source="Orphanet:1659", source="MONDO:ontobio", source="ORDO:1659/e"}
xref: OMIM:221790 {source="MONDO:equivalentTo", source="Orphanet:1659", source="ORDO:1659/e"}
xref: Orphanet:1659 {source="OMIM:221790", source="MONDO:equivalentTo"}
xref: SCTID:733044009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857314 {source="NCBI:mim2gene_medline", source="OMIM:221790", source="MONDO:equivalentTo", source="Orphanet:1659", source="ORDO:1659/e"}
is_a: MONDO:0019046 {source="Orphanet:1659"} ! leukodystrophy
is_a: MONDO:0019292 {source="Orphanet:1659", source="Orphanet:1659/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C538220
property_value: exactMatch http://identifiers.org/omim/221790
property_value: exactMatch http://identifiers.org/snomedct/733044009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857314
property_value: exactMatch Orphanet:1659
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy xsd:anyURI {source="GARD:0001813"}

[Term]
id: MONDO:0009094
name: dermochondrocorneal dystrophy
def: "Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." [Orphanet:79149]
subset: ordo_disease {source="Orphanet:79149"}
synonym: "DCCD" RELATED [GARD:0001815]
synonym: "dermochondrocorneal dystrophy" EXACT [OMIM:221800]
synonym: "Dermochondrocorneal dystrophy of François" RELATED [GARD:0001815]
synonym: "FranC'ois syndrome" EXACT [Orphanet:79149]
synonym: "Francois syndrome" RELATED [OMIM:221800]
synonym: "François syndrome" EXACT [Orphanet:79149]
xref: GARD:0001815 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:379.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="ORDO:79149/e"}
xref: Orphanet:79149 {source="MONDO:equivalentTo", source="OMIM:221800"}
xref: SCTID:254150007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.35"}
xref: UMLS:C0432288 {source="Orphanet:79149", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221800"}
is_a: MONDO:0018798 {source="Orphanet:79149"} ! other genetic dermis disorder
is_a: MONDO:0020215 {source="Orphanet:79149"} ! syndromic corneal dystrophy
is_a: MONDO:0021154 {source="Orphanet:79149"} ! dermis disease
property_value: exactMatch http://identifiers.org/mesh/C535375
property_value: exactMatch http://identifiers.org/omim/221800
property_value: exactMatch http://identifiers.org/snomedct/254150007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432288
property_value: exactMatch Orphanet:79149

[Term]
id: MONDO:0009095
name: dermatoosteolysis, Kirghizian type
def: "Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." [Orphanet:1657]
subset: gard_rare {source="GARD:0001814"}
subset: ordo_malformation_syndrome {source="Orphanet:1657"}
synonym: "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" RELATED [GARD:0001814]
synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814]
synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810]
synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810]
xref: GARD:0001814 {source="MONDO:equivalentTo"}
xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e", source="MONDO:ontobio"}
xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e"}
xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"}
xref: SCTID:721090002 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
xref: UMLS:C1857301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e", source="OMIM:221810"}
is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535373
property_value: exactMatch http://identifiers.org/omim/221810
property_value: exactMatch http://identifiers.org/snomedct/721090002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857301
property_value: exactMatch Orphanet:1657
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type xsd:anyURI {source="GARD:0001814"}

[Term]
id: MONDO:0009096
name: hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
def: "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." [Orphanet:313808]
subset: ordo_disease {source="Orphanet:313808"}
synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" RELATED [GARD:0010981]
synonym: "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [Orphanet:313808]
synonym: "ALSP" EXACT [Orphanet:313808]
synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT [Orphanet:313808]
synonym: "dementia, familial, Neumann type" RELATED [OMIM:221820]
synonym: "familial dementia, Neumann type" EXACT [Orphanet:313808]
synonym: "familial progressive subcortical gliosis" EXACT [Orphanet:313808]
synonym: "FPSG" EXACT [Orphanet:313808]
synonym: "gliosis, familial progressive subcortical" RELATED [OMIM:221820]
synonym: "GPSC" EXACT [Orphanet:313808]
synonym: "HDLS" EXACT [MONDO:Lexical, OMIM:221820, Orphanet:313808]
synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" RELATED [GARD:0010981]
synonym: "hereditary diffuse leukoencephalopathy with spheroids" EXACT [Orphanet:313808]
synonym: "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" RELATED [OMIM:221820]
synonym: "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" RELATED [OMIM:221820]
synonym: "leukoencephalopathy, diffuse hereditary, with spheroids" RELATED [MONDO:Lexical, OMIM:221820]
synonym: "leukoencephalopathy, diffuse hereditary, with spheroids; HDLS" RELATED [OMIM:221820]
synonym: "leukoencephalopathy, hereditary diffuse, with spheroids" RELATED [OMIM:221820]
synonym: "leukoencephalopathy, hereditary diffuse, with spheroids; HDLS" RELATED [OMIM:221820]
synonym: "neuroaxonal leukodystrophy" RELATED [GARD:0010981]
synonym: "pigmentary orthochromatic leukodystrophy" EXACT [Orphanet:313808]
synonym: "POLD" EXACT [Orphanet:313808]
synonym: "subcortical gliosis of Neumann" EXACT [OMIM:221820, Orphanet:313808]
xref: GARD:0010981 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:313808", source="ORDO:313808/attributed", source="ORDO:313808/ntbt"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580150 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C153289 {source="MONDO:equivalentTo"}
xref: OMIM:221820 {source="MONDO:equivalentTo", source="Orphanet:313808", source="ORDO:313808/e"}
xref: Orphanet:313808 {source="MONDO:equivalentTo", source="OMIM:221820"}
xref: SCTID:702427005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3711381 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:313808"}
is_a: MONDO:0019046 {source="Orphanet:313808"} ! leukodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857300
property_value: exactMatch http://identifiers.org/mesh/C580150
property_value: exactMatch http://identifiers.org/omim/221820
property_value: exactMatch http://identifiers.org/snomedct/702427005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711381
property_value: exactMatch NCIT:C153289
property_value: exactMatch Orphanet:313808

[Term]
id: MONDO:0009097
name: persistent hyperplastic primary vitreous, autosomal recessive
def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern]
synonym: "persistent fetal vasculature" RELATED [OMIM:221900]
synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900]
synonym: "persistent hyperplastic primary vitreous, autosomal recessive; PHPVAR" RELATED [OMIM:221900]
synonym: "PHPVAR" RELATED [MONDO:Lexical, OMIM:221900]
synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900]
synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [OMIM:221900]
xref: OMIM:221900 {source="MONDO:equivalentTo"}
xref: Orphanet:300337 {source="MONDO:obsoleteEquivalent", source="OMIM:221900"}
xref: UMLS:C1969783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019631 {source="DC-OMIM:221900", source="MONDO:Redundant", source="OMIM:221900"} ! persistent hyperplastic primary vitreous
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857299
property_value: exactMatch http://identifiers.org/omim/221900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969783
property_value: exactMatch Orphanet:300337

[Term]
id: MONDO:0009098
name: dextrocardia with unusual facies and microphthalmia
subset: gard_rare {source="GARD:0000136"}
synonym: "Aughton syndrome" RELATED [GARD:0000136]
synonym: "dextrocardia with unusual facies and microphthalmia" EXACT [OMIM:221950]
synonym: "dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation" RELATED [GARD:0000136]
xref: GARD:0000136 {source="MONDO:equivalentTo"}
xref: MESH:C538269 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:221950 {source="MONDO:equivalentTo"}
xref: UMLS:C1857298 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221950"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538269
property_value: exactMatch http://identifiers.org/omim/221950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857298
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia xsd:anyURI {source="GARD:0000136"}

[Term]
id: MONDO:0009099
name: nephrogenic diabetes insipidus-intracranial calcification syndrome
def: "This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." [Orphanet:3145]
subset: gard_rare
subset: ordo_disease {source="Orphanet:3145"}
synonym: "diabetes insipidus nephrogenic mental retardation and intracerebral calcification" RELATED [GARD:0000259]
synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED [OMIM:221995]
synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259]
synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145]
xref: GARD:0000259 {source="MONDO:equivalentTo"}
xref: ICD10:N21.5 {source="Orphanet:3145", source="ORDO:3145/attributed", source="ORDO:3145/ntbt"}
xref: OMIM:221995 {source="Orphanet:3145", source="ORDO:3145/e", source="GARD:0000259", source="MONDO:equivalentTo"}
xref: Orphanet:3145 {source="GARD:0000259", source="MONDO:equivalentTo", source="OMIM:221995"}
xref: SCTID:716200002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.55"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0009099"} ! syndromic disease
is_a: MONDO:0015962 {source="Orphanet:3145"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:3145"} ! rare renal tubular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857297
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931070
property_value: exactMatch http://identifiers.org/omim/221995
property_value: exactMatch http://identifiers.org/snomedct/716200002
property_value: exactMatch Orphanet:3145
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification xsd:anyURI {source="GARD:0000259"}

[Term]
id: MONDO:0009100
name: IDDM 1
synonym: "diabetes mellitus, insulin-dependent" RELATED [MONDO:Lexical, OMIM:222100]
synonym: "diabetes mellitus, insulin-dependent, 1" RELATED [OMIM:222100]
synonym: "diabetes mellitus, insulin-dependent; IDDM" RELATED [OMIM:222100]
synonym: "diabetes mellitus, type 1" RELATED [OMIM:222100]
synonym: "IDDM" RELATED [MONDO:Lexical, OMIM:222100]
synonym: "IDDM1" RELATED []
synonym: "insulin-dependent diabetes mellitus 1" RELATED [OMIM:222100]
synonym: "juvenile-onset diabetes" RELATED [OMIM:222100]
xref: OMIM:222100 {source="MONDO:equivalentTo"}
is_a: MONDO:0005147 ! type 1 diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011854
property_value: exactMatch http://identifiers.org/omim/222100

[Term]
id: MONDO:0009101
name: Wolfram syndrome 1
def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" RELATED [OMIM:222300]
synonym: "Wfs" RELATED [OMIM:222300]
synonym: "WFS1" EXACT [DOID:0110629, MONDO:Lexical, OMIM:222300]
synonym: "WFS1 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Wolfram syndrome 1" EXACT [MONDO:Lexical, OMIM:222300]
synonym: "WOLFRAM syndrome 1; WFS1" RELATED [OMIM:222300]
synonym: "Wolfram syndrome caused by mutation in WFS1" EXACT [MONDO:design_pattern]
synonym: "Wolfram syndrome type 1" EXACT [DOID:0110629, MONDORULE:1, OMIM:222300]
xref: DOID:0110629 {source="MONDO:equivalentTo"}
xref: ICD10:E13.8 {source="DOID:0110629"}
xref: OMIM:222300 {source="MONDO:equivalentTo", source="DOID:0110629"}
is_a: MONDO:0018105 {source="DC-OMIM:222300", source="DOID:0110629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome
property_value: exactMatch DOID:0110629
property_value: exactMatch http://identifiers.org/omim/222300

[Term]
id: MONDO:0009102
name: diaminopentanuria
synonym: "cystine-lysinuria" RELATED [OMIM:222350]
synonym: "Diaminopentanuria" EXACT [OMIM:222350]
xref: MESH:C565630 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:222350 {source="MONDO:equivalentTo"}
xref: UMLS:C1857285 {source="OMIM:222350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565630/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565630
property_value: exactMatch http://identifiers.org/omim/222350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857285

[Term]
id: MONDO:0009103
name: diaphragmatic hernia 2
synonym: "diaphragmatic hernia 2" EXACT [MONDO:Lexical, OMIM:222400]
synonym: "diaphragmatic hernia 2; DIH2" RELATED [OMIM:222400]
synonym: "DIH2" RELATED [MONDO:Lexical, OMIM:222400]
xref: MESH:C565629 {source="MONDO:equivalentTo"}
xref: OMIM:222400 {source="MONDO:equivalentTo"}
is_a: MONDO:0005711 {source="DC-OMIM:222400"} ! congenital diaphragmatic hernia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857284
property_value: exactMatch http://identifiers.org/mesh/C565629
property_value: exactMatch http://identifiers.org/omim/222400

[Term]
id: MONDO:0009104
name: Donnai-Barrow syndrome
def: "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." [Orphanet:2143]
subset: gard_rare {source="GARD:0001899"}
subset: ordo_malformation_syndrome {source="Orphanet:2143"}
synonym: "DBS/FOAR syndrome" EXACT [DOID:0090144, OMIM:222448, Orphanet:2143]
synonym: "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" RELATED [GARD:0001899]
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" RELATED [OMIM:222448]
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [DOID:0090144]
synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "Donnai-Barrow syndrome" EXACT [OMIM:222448]
synonym: "facio-oculo-acoustico-renal syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "faciooculoacousticorenal syndrome" EXACT [DOID:0090144]
synonym: "FOAR syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "Holmes-Schepens syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [DOID:0090144, Orphanet:2143]
xref: DOID:0090144 {source="MONDO:equivalentTo"}
xref: GARD:0001899 {source="MONDO:equivalentTo"}
xref: GARD:1899 {source="DOID:0090144"}
xref: ICD10:Q87.8 {source="Orphanet:2143", source="DOID:0090144", source="ORDO:2143/attributed", source="ORDO:2143/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2143/e"}
xref: OMIM:222448 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="ORDO:2143/e"}
xref: Orphanet:2143 {source="DOID:0090144", source="MONDO:equivalentTo", source="OMIM:222448"}
xref: SCTID:702418009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1857277 {source="Orphanet:2143", source="DOID:0090144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222448", source="ORDO:2143/e"}
is_a: MONDO:0006025 {source="DOID:0090144", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015216 {source="Orphanet:2143"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015880 {source="Orphanet:2143"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2143"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0090144
property_value: exactMatch http://identifiers.org/mesh/C536390
property_value: exactMatch http://identifiers.org/omim/222448
property_value: exactMatch http://identifiers.org/snomedct/702418009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857277
property_value: exactMatch Orphanet:2143
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome xsd:anyURI {source="GARD:0001899"}

[Term]
id: MONDO:0009105
name: tricho-hepato-enteric syndrome
def: "Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." [Orphanet:84064]
subset: ordo_disease {source="Orphanet:84064"}
synonym: "phenotypic diarrhea" EXACT [Orphanet:84064]
synonym: "SD/THE" EXACT [Orphanet:84064]
synonym: "Syndromatic diarrhea" RELATED [GARD:0005258]
synonym: "syndromic diarrhea" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064]
synonym: "THES1" RELATED [MONDO:Lexical, OMIM:222470]
synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064]
synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064]
synonym: "TRICHOHEPATOENTERIC syndrome 1" RELATED [MONDO:Lexical, OMIM:222470]
synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470]
xref: GARD:0005258 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: OMIMPS:222470 {source="MONDO:equivalentTo"}
xref: Orphanet:84064 {source="OMIM:222470", source="MONDO:equivalentTo"}
xref: SCTID:703406006 {source="MONDO:equivalentTo"}
xref: UMLS:C1857276 {source="MEDGEN:kboom-pr97-c98", source="OMIM:222470", source="MONDO:equivalentTo", source="Orphanet:84064"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:84064"} ! genetic parenchymatous liver disease
is_a: MONDO:0015710 {source="Orphanet:84064"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0018782 {source="Orphanet:84064"} ! type 1 interferonopathy
is_a: MONDO:0019126 {source="Orphanet:84064"} ! intractable diarrhea of infancy
property_value: exactMatch http://identifiers.org/snomedct/703406006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857276
property_value: exactMatch Orphanet:84064

[Term]
id: MONDO:0009106
name: diastematomyelia
def: "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." [NCIT:C98913]
subset: ordo_morphological_anomaly {source="Orphanet:1671"}
synonym: "diastematomyelia" EXACT [OMIM:222500]
synonym: "Dimyelia" RELATED [GARD:0001851]
synonym: "diplomyelia" RELATED [GARD:0001851]
synonym: "Pseudodiplomyelia" RELATED [GARD:0001851]
synonym: "SCM type 1" EXACT [Orphanet:1671]
synonym: "split cord malformation" RELATED [GARD:0001851]
synonym: "split cord malformation type 1" EXACT [Orphanet:1671]
synonym: "split spinal cord malformation" RELATED [GARD:0001851]
synonym: "SSCM" RELATED [GARD:0001851]
xref: COHD:139132 {source="MONDO:equivalentTo"}
xref: GARD:0001851 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q06.2 {source="Orphanet:1671", source="ORDO:1671/e", source="ORDO:1671/specific", source="MONDO:equivalentTo"}
xref: ICD9:742.51 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10012750 {source="Orphanet:1671", source="ORDO:1671/e"}
xref: NCIT:C98913 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:222500 {source="Orphanet:1671", source="ORDO:1671/e", source="MONDO:equivalentTo"}
xref: Orphanet:1671 {source="MONDO:equivalentTo", source="OMIM:222500"}
xref: SCTID:49351009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0011999 {source="Orphanet:1671", source="ORDO:1671/e", source="NCIT:C98913", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222500"}
is_a: MONDO:0017085 {source="Orphanet:1671"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch http://identifiers.org/meddra/10012750
property_value: exactMatch http://identifiers.org/omim/222500
property_value: exactMatch http://identifiers.org/snomedct/49351009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011999
property_value: exactMatch NCIT:C98913
property_value: exactMatch Orphanet:1671

[Term]
id: MONDO:0009107
name: diastrophic dysplasia
def: "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." [Orphanet:628]
subset: ordo_disease {source="Orphanet:628"}
synonym: "DD" RELATED [OMIM:222600]
synonym: "diastrophic dwarfism" RELATED [Orphanet:628]
synonym: "diastrophic dysplasia" EXACT [MONDO:Lexical, OMIM:222600, Orphanet:628]
synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMIM:222600]
synonym: "diastrophic dysplasia; DTD" RELATED [OMIM:222600]
synonym: "DTD" RELATED [MONDO:Lexical, OMIM:222600]
xref: DOID:14687 {source="MONDO:equivalentTo"}
xref: GARD:0006275 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.5 {source="ORDO:628/specific", source="ORDO:628/e", source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"}
xref: OMIM:222600 {source="ORDO:628/e", source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687"}
xref: Orphanet:628 {source="MONDO:equivalentTo", source="OMIM:222600"}
xref: SCTID:58561002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14687"}
is_a: MONDO:0005516 {source="DOID:14687", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0018232 {source="Orphanet:628"} ! primary bone dysplasia with micromelia
is_a: MONDO:0019688 {source="Orphanet:628"} ! sulfation-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857255
property_value: exactMatch DOID:14687
property_value: exactMatch http://identifiers.org/mesh/C536170
property_value: exactMatch http://identifiers.org/omim/222600
property_value: exactMatch http://identifiers.org/snomedct/58561002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220726
property_value: exactMatch Orphanet:628

[Term]
id: MONDO:0009108
name: hyperdibasic aminoaciduria type 1
def: "Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." [Orphanet:1032]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1032"}
synonym: "dibasic amino aciduria 1" RELATED [OMIM:222690]
synonym: "dibasic amino aciduria I" RELATED [OMIM:222690]
synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690]
synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854]
xref: GARD:0001854 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="Orphanet:1032", source="ORDO:1032/attributed", source="ORDO:1032/ntbt"}
xref: MESH:C567132 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="ORDO:1032/e"}
xref: Orphanet:1032 {source="OMIM:222690", source="MONDO:equivalentTo"}
xref: UMLS:C2673736 {source="Orphanet:1032", source="OMIM:222690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019216 {source="Orphanet:1032"} ! inborn disorder of amino acid absorption and transport
property_value: exactMatch http://identifiers.org/mesh/C567132
property_value: exactMatch http://identifiers.org/omim/222690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673736
property_value: exactMatch Orphanet:1032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 xsd:anyURI {source="GARD:0001854"}

[Term]
id: MONDO:0009109
name: lysinuric protein intolerance
def: "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." [Orphanet:470]
subset: gard_rare {source="GARD:0003335"}
subset: ordo_disease {source="Orphanet:470"}
synonym: "dibasic amino aciduria 2" RELATED [OMIM:222700]
synonym: "dibasic amino aciduria II" EXACT [DOID:0060439]
synonym: "dibasic aminoaciduria 2" RELATED [GARD:0001853]
synonym: "Dibasicamino aciduria II" RELATED [GARD:0003335]
synonym: "hyperdibasic aminoaciduria" EXACT [DOID:0060439]
synonym: "hyperdibasic aminoaciduria type 2" EXACT [Orphanet:470]
synonym: "LPI" EXACT [DOID:0060439, MONDO:Lexical, OMIM:222700, Orphanet:470]
synonym: "lysinuric protein intolerance" EXACT [MONDO:Lexical, OMIM:222700]
synonym: "lysinuric PROTEIN intolerance; LPI" RELATED [OMIM:222700]
xref: DOID:0060439 {source="MONDO:equivalentTo"}
xref: GARD:0001853 {source="MONDO:equivalentTo"}
xref: GARD:0003335 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="ORDO:470/attributed", source="ORDO:470/ntbt", source="Orphanet:470"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058300 {source="ORDO:470/e", source="Orphanet:470"}
xref: MESH:C562687 {source="MONDO:equivalentTo", source="DOID:0060439", source="MONDO:ontobio"}
xref: NCIT:C121563 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20", source="DOID:0060439"}
xref: OMIM:222700 {source="MONDO:equivalentTo", source="ORDO:470/e", source="Orphanet:470", source="DOID:0060439"}
xref: Orphanet:470 {source="MONDO:equivalentTo", source="DOID:0060439", source="OMIM:222700"}
xref: SCTID:303852004 {source="MONDO:equivalentTo", source="DOID:0060439", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:470/e", source="Orphanet:470", source="DOID:0060439", source="NCIT:C121563", source="OMIM:222700"}
is_a: MONDO:0004736 {source="DOID:0060439", source="MESH:C562687"} ! inherited amino acid metabolic disorder
is_a: MONDO:0019216 {source="Orphanet:470", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport
property_value: closeMatch http://identifiers.org/snomedct/13138006
property_value: closeMatch http://identifiers.org/snomedct/236476008
property_value: closeMatch http://identifiers.org/snomedct/237943005
property_value: closeMatch http://identifiers.org/snomedct/367410007
property_value: exactMatch DOID:0060439
property_value: exactMatch http://identifiers.org/meddra/10058300
property_value: exactMatch http://identifiers.org/mesh/C562687
property_value: exactMatch http://identifiers.org/omim/222700
property_value: exactMatch http://identifiers.org/snomedct/303852004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268647
property_value: exactMatch NCIT:C121563
property_value: exactMatch Orphanet:470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 xsd:anyURI {source="GARD:0001853"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance xsd:anyURI {source="GARD:0003335"}

[Term]
id: MONDO:0009110
name: dicarboxylic aminoaciduria
def: "Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." [Orphanet:2195]
subset: gard_rare {source="GARD:0001855"}
subset: ordo_disease {source="Orphanet:2195"}
synonym: "DCBXA" RELATED [MONDO:Lexical, OMIM:222730]
synonym: "dicarboxylic aminoaciduria" EXACT [MONDO:Lexical, OMIM:222730]
synonym: "dicarboxylic aminoaciduria; DCBXA" RELATED [OMIM:222730]
synonym: "Dicarboxylicaminoaciduria" RELATED [GARD:0001855]
synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730]
synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195]
xref: DOID:0060650 {source="MONDO:equivalentTo"}
xref: GARD:0001855 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="DOID:0060650", source="Orphanet:2195", source="ORDO:2195/attributed", source="ORDO:2195/ntbt"}
xref: MESH:C536171 {source="DOID:0060650", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2195", source="ORDO:2195/e"}
xref: OMIM:222730 {source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195", source="ORDO:2195/e"}
xref: Orphanet:2195 {source="DOID:0060650", source="MONDO:equivalentTo", source="OMIM:222730"}
xref: SCTID:716747007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C1857253 {source="MEDGEN:kboom-pr98-c99", source="DOID:0060650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222730", source="Orphanet:2195", source="ORDO:2195/e"}
is_a: MONDO:0004736 {source="DOID:0060650"} ! inherited amino acid metabolic disorder
is_a: MONDO:0019216 {source="Orphanet:2195", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport
property_value: exactMatch DOID:0060650
property_value: exactMatch http://identifiers.org/mesh/C536171
property_value: exactMatch http://identifiers.org/omim/222730
property_value: exactMatch http://identifiers.org/snomedct/716747007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857253
property_value: exactMatch Orphanet:2195
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria xsd:anyURI {source="GARD:0001855"}

[Term]
id: MONDO:0009111
name: dihydropyrimidinuria
def: "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." [Orphanet:38874]
subset: ordo_disease {source="Orphanet:38874"}
synonym: "dihydropyrimidinase deficiency" EXACT [MONDO:Lexical, OMIM:222748, Orphanet:38874]
synonym: "dihydropyrimidinase deficiency; DPYSD" RELATED [OMIM:222748]
synonym: "dihydropyrimidinuria" EXACT [OMIM:222748]
synonym: "Dph deficiency" RELATED [OMIM:222748]
synonym: "Dpys deficiency" RELATED [OMIM:222748]
synonym: "DPYSD" RELATED [MONDO:Lexical, OMIM:222748]
xref: GARD:0012347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E79.8 {source="ORDO:38874/attributed", source="ORDO:38874/ntbt", source="Orphanet:38874"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:222748 {source="MONDO:equivalentTo", source="ORDO:38874/e", source="Orphanet:38874"}
xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"}
xref: SCTID:238014002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0019238 {source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342803
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495551
property_value: exactMatch http://identifiers.org/omim/222748
property_value: exactMatch http://identifiers.org/snomedct/238014002
property_value: exactMatch Orphanet:38874

[Term]
id: MONDO:0009112
name: rhizomelic chondrodysplasia punctata type 2
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009429"}
subset: ordo_etiological_subtype {source="Orphanet:309796"}
synonym: "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" RELATED [GARD:0009429]
synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Dhapat deficiency" EXACT [DOID:0110852]
synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Gnpat deficiency" EXACT [DOID:0110852, OMIM:222765]
synonym: "GNPAT rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765]
synonym: "RCDP2" RELATED [MONDO:Lexical, OMIM:222765]
synonym: "Rcdp2" EXACT [DOID:0110852]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata, type 2" RELATED [MONDO:Lexical, OMIM:222765]
synonym: "rhizomelic chondrodysplasia punctata, type 2; RCDP2" RELATED [OMIM:222765]
synonym: "type 2 rhizomelic chondrodysplasia punctata" RELATED [GARD:0009429]
xref: DOID:0110852 {source="MONDO:equivalentTo"}
xref: GARD:0009429 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="DOID:0110852", source="ORDO:309796/attributed", source="ORDO:309796/ntbt", source="Orphanet:309796"}
xref: MESH:C537607 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:222765 {source="DOID:0110852", source="MONDO:equivalentTo", source="ORDO:309796/e", source="Orphanet:309796"}
xref: Orphanet:309796 {source="DOID:0110852", source="MONDO:equivalentTo", source="OMIM:222765"}
xref: UMLS:C1857242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309796/e", source="OMIM:222765", source="Orphanet:309796"}
is_a: MONDO:0015776 {source="DC-OMIM:222765", source="DOID:0110852", source="MESH:C537607", source="MONDO:Redundant", source="MONDOLEX:0009112", source="OMIM:222765", source="Orphanet:309796"} ! rhizomelic chondrodysplasia punctata
property_value: exactMatch DOID:0110852
property_value: exactMatch http://identifiers.org/mesh/C537607
property_value: exactMatch http://identifiers.org/omim/222765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857242
property_value: exactMatch Orphanet:309796
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2 xsd:anyURI {source="GARD:0009429"}

[Term]
id: MONDO:0009113
name: hemolytic anemia due to diphosphoglycerate mutase deficiency
def: "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." [NCIT:C131638]
subset: ordo_disease {source="Orphanet:714"}
synonym: "bisphosphoglycerate mutase deficiency" RELATED [OMIM:222800]
synonym: "bisphosphoglyceromutase deficiency" RELATED [OMIM:222800]
synonym: "BPGM deficiency" RELATED [OMIM:222800]
synonym: "diphosphoglycerate mutase deficiency of erythrocyte" RELATED [OMIM:222800]
synonym: "diphosphoglycerate phosphatase deficiency" EXACT [NCIT:C131638]
synonym: "DPGM deficiency" RELATED [OMIM:222800]
xref: GARD:0001874 {source="MONDO:equivalentTo"}
xref: ICD10:D55.2 {source="Orphanet:714", source="ORDO:714/attributed", source="ORDO:714/ntbt"}
xref: NCIT:C131638 {source="MONDO:kboom-pr-1.00/0.79/9.65", source="MONDO:equivalentTo"}
xref: OMIM:222800 {source="ORDO:714/e", source="MONDO:equivalentTo", source="Orphanet:714"}
xref: Orphanet:714 {source="MONDO:equivalentTo", source="OMIM:222800"}
xref: UMLS:C1291620 {source="NCBI:mim2gene_medline", source="NCIT:C131638", source="MONDO:equivalentTo"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0019602 {source="Orphanet:714"} ! other inborn metabolic disease
is_a: MONDO:0020106 {source="Orphanet:714"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412816
property_value: exactMatch http://identifiers.org/omim/222800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291620
property_value: exactMatch NCIT:C131638
property_value: exactMatch Orphanet:714

[Term]
id: MONDO:0009114
name: congenital sucrase-isomaltase deficiency
def: "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene,  characterised by malabsorption of sucrose and maltose." [https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency]
subset: gard_rare
subset: ordo_disease {source="Orphanet:35122"}
synonym: "congenital sucrase-isomaltose malabsorption" EXACT [Orphanet:35122]
synonym: "congenital sucrose intolerance" EXACT [Orphanet:35122]
synonym: "congenital sucrose malabsorption" RELATED []
synonym: "congenital sucrose-isomaltase intolerance" RELATED []
synonym: "congenital sucrose-isomaltase malabsorption" RELATED [GARD:0007710]
synonym: "CSID" EXACT [MONDO:Lexical, OMIM:222900, Orphanet:35122]
synonym: "disaccharide intolerance" EXACT [Orphanet:35122]
synonym: "disaccharide intolerance 1" RELATED [OMIM:222900]
synonym: "disaccharide intolerance i" RELATED []
synonym: "disaccharide intolerance, 1" RELATED [GARD:0007710]
synonym: "genetic sucrase-isomaltose malabsorption" EXACT [Orphanet:35122]
synonym: "intestinal sucrase-a-dextrinase deficiency" RELATED []
synonym: "invertase deficiency" RELATED []
synonym: "SI deficiency" RELATED [OMIM:222900]
synonym: "sucrase-alpha-dextrinase deficiency" RELATED []
synonym: "sucrase-isomaltase deficiency" EXACT []
synonym: "sucrase-isomaltase deficiency, congenital" RELATED [MONDO:Lexical, OMIM:222900]
synonym: "sucrase-isomaltase deficiency, congenital; CSID" RELATED [OMIM:222900]
synonym: "sucrose intolerance congenital" RELATED [GARD:0007710]
synonym: "sucrose intolerance, congenital" RELATED [OMIM:222900]
synonym: "sucrose isomaltose enzyme deficiency" RELATED [GARD:0006183]
synonym: "sucrose-isomaltase malabsorption, congenital" RELATED [GARD:0007710]
synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900]
xref: GARD:0006183 {source="MONDO:equivalentTo"}
xref: GARD:0007710 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.3 {source="ORDO:35122/ntbt", source="Orphanet:35122", source="ORDO:35122/inclusion"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s", source="linkedlifedata"}
xref: MedDRA:10066387 {source="ORDO:35122/e", source="Orphanet:35122"}
xref: MESH:C538139 {source="MONDO:equivalentTo", source="ORDO:35122/e", source="Orphanet:35122", source="MONDO:ontobio"}
xref: NCIT:C128190 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:222900 {source="MONDO:equivalentTo", source="ORDO:35122/e", source="Orphanet:35122"}
xref: Orphanet:35122 {source="MONDO:equivalentTo", source="OMIM:222900"}
xref: SCTID:78373000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C1283620 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="GARD:0006183", source="MONDO:equivalentTo", source="NCIT:C128190", source="ORDO:35122/e", source="Orphanet:35122", source="OMIM:222900"}
is_a: MONDO:0004905 {source="linkedlifedata"} ! intestinal disaccharidase deficiency
is_a: MONDO:0015181 {source="Orphanet:35122"} ! congenital intestinal disease due to an enzymatic defect
is_a: MONDO:0017706 {source="Orphanet:35122"} ! disorder of carbohydrate absorption and transport
property_value: exactMatch http://identifiers.org/meddra/10066387
property_value: exactMatch http://identifiers.org/mesh/C538139
property_value: exactMatch http://identifiers.org/omim/222900
property_value: exactMatch http://identifiers.org/snomedct/78373000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1283620
property_value: exactMatch NCIT:C128190
property_value: exactMatch Orphanet:35122
property_value: seeAlso https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency xsd:anyURI {source="https://github.com/monarch-initiative/mondo/issues/886"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption xsd:anyURI {source="GARD:0006183"}

[Term]
id: MONDO:0009115
name: congenital lactase deficiency
def: "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." [Orphanet:53690]
subset: gard_rare {source="GARD:0012311"}
subset: ordo_disease {source="Orphanet:53690"}
synonym: "Alactasia, congenital" RELATED [OMIM:223000]
synonym: "disaccharide intolerance 2" RELATED [OMIM:223000]
synonym: "lactase deficiency, congenital" RELATED [OMIM:223000]
xref: GARD:0012311 {source="MONDO:equivalentTo"}
xref: ICD10:E73.0 {source="MONDO:equivalentTo", source="ORDO:53690/e", source="Orphanet:53690", source="ORDO:53690/specific"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562600 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223000 {source="MONDO:equivalentTo", source="ORDO:53690/e", source="Orphanet:53690"}
xref: Orphanet:53690 {source="OMIM:223000", source="MONDO:equivalentTo"}
xref: SCTID:5388008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015181 {source="Orphanet:53690"} ! congenital intestinal disease due to an enzymatic defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017706 {source="Orphanet:53690"} ! disorder of carbohydrate absorption and transport
property_value: exactMatch http://identifiers.org/mesh/C562600
property_value: exactMatch http://identifiers.org/omim/223000
property_value: exactMatch http://identifiers.org/snomedct/5388008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268179
property_value: exactMatch Orphanet:53690
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency xsd:anyURI {source="GARD:0012311"}

[Term]
id: MONDO:0009116
name: lactose intolerance (disease)
def: "Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose." [NCIT:P378]
synonym: "adult lactase deficiency" NARROW [OMIM:223100]
synonym: "disaccharide intolerance 3" RELATED [OMIM:223100]
synonym: "hypolactasia, adult type" RELATED [OMIM:223100]
synonym: "lactase persistence" RELATED [OMIM:223100]
synonym: "lactose intolerance" EXACT [MONDO:ambiguous]
synonym: "lactose intolerance, ADULT type" RELATED [OMIM:223100]
synonym: "LM - lactose malabsorption" EXACT [DOID:10604]
xref: COHD:4143342 {source="MONDO:equivalentTo"}
xref: DOID:10604 {source="MONDO:equivalentTo"}
xref: EFO:1000062 {source="MONDO:equivalentTo"}
xref: HP:0004789 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E73 {source="DOID:10604"}
xref: ICD10:E73.9 {source="DOID:10604"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3154 {source="MONDO:equivalentTo", source="DOID:10604", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:223100 {source="MONDO:equivalentTo", source="DOID:10604"}
xref: SCTID:267425008 {source="MONDO:equivalentTo", source="DOID:10604", source="MONDO:kboom-pr-0.93/0.74/1.31"}
xref: UMLS:C0022951 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3154", source="MONDO:equivalentTo", source="DOID:10604"}
is_a: MONDO:0005137 {source="EFO:1000062"} ! nutritional disorder
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0019214 {source="DOID:10604", source="NCIT:C3154"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0020598 ! malabsorption syndrome
property_value: closeMatch http://identifiers.org/mesh/D007787
property_value: closeMatch http://identifiers.org/snomedct/154736007
property_value: closeMatch http://identifiers.org/snomedct/190750000
property_value: closeMatch http://identifiers.org/snomedct/190757002
property_value: closeMatch http://identifiers.org/snomedct/267497007
property_value: closeMatch http://identifiers.org/snomedct/700094005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268181
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857231
property_value: closeMatch Orphanet:319681
property_value: exactMatch DOID:10604
property_value: exactMatch http://identifiers.org/omim/223100
property_value: exactMatch http://identifiers.org/snomedct/267425008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022951
property_value: exactMatch NCIT:C3154

[Term]
id: MONDO:0009117
name: obsolete disorganization, mouse, homolog of
synonym: "disorganization, mouse, homolog OF" RELATED [OMIM:223200]
synonym: "Ds" RELATED [OMIM:223200]
xref: OMIM:223200 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1857230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:223200"}
property_value: exactMatch http://identifiers.org/omim/223200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857230
is_obsolete: true

[Term]
id: MONDO:0009118
name: disseminated sclerosis with narcolepsy
synonym: "disseminated sclerosis with narcolepsy" EXACT [OMIM:223300]
xref: MESH:C565621 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223300 {source="MONDO:equivalentTo"}
xref: UMLS:C1857229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:223300"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch Orphanet:802
property_value: exactMatch http://identifiers.org/mesh/C565621
property_value: exactMatch http://identifiers.org/omim/223300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857229

[Term]
id: MONDO:0009119
name: diverticulosis, small-intestinal
synonym: "diverticulosis, small-intestinal" EXACT [OMIM:223320]
xref: MESH:C565620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223320 {source="MONDO:equivalentTo"}
xref: UMLS:C1857228 {source="OMIM:223320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565620
property_value: exactMatch http://identifiers.org/omim/223320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857228

[Term]
id: MONDO:0009120
name: marfanoid syndrome, De Silva type
def: "Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." [Orphanet:2464]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2464"}
synonym: "diverticulosis of bowel, hernia, and retinal detachment" RELATED [OMIM:223330]
synonym: "Marphanoid syndrome type De Silva" RELATED [GARD:0003401]
xref: GARD:0003401 {source="MONDO:equivalentTo"}
xref: MESH:C565619 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223330 {source="ORDO:2464/e", source="Orphanet:2464", source="MONDO:equivalentTo"}
xref: Orphanet:2464 {source="OMIM:223330", source="MONDO:equivalentTo"}
xref: UMLS:C1857227 {source="Orphanet:2464", source="NCBI:mim2gene_medline", source="OMIM:223330", source="MONDO:equivalentTo"}
is_a: MONDO:0015212 {source="Orphanet:2464"} ! syndromic intestinal malformation
property_value: exactMatch http://identifiers.org/mesh/C565619
property_value: exactMatch http://identifiers.org/omim/223330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857227
property_value: exactMatch Orphanet:2464

[Term]
id: MONDO:0009121
name: von Voss-Cherstvoy syndrome
def: "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." [Orphanet:3439]
subset: ordo_malformation_syndrome {source="Orphanet:3439"}
synonym: "DK phocomelia syndrome" EXACT [OMIM:223340, Orphanet:3439]
synonym: "phocomelia thrombocytopenia encephalocele and urogenital malformations" RELATED [GARD:0001894]
synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" RELATED [OMIM:223340]
synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome" EXACT [Orphanet:3439]
synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894]
synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340]
xref: GARD:0001894 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3439/attributed", source="ORDO:3439/ntbt", source="Orphanet:3439"}
xref: MESH:C565618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="ORDO:3439/e"}
xref: Orphanet:3439 {source="OMIM:223340", source="MONDO:equivalentTo"}
xref: SCTID:719021005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C1857226 {source="OMIM:223340", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3439"}
is_a: MONDO:0043008 {source="Orphanet:3439"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565618
property_value: exactMatch http://identifiers.org/omim/223340
property_value: exactMatch http://identifiers.org/snomedct/719021005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857226
property_value: exactMatch Orphanet:3439

[Term]
id: MONDO:0009122
name: Dohle bodies and leukemia
synonym: "Dohle bodies and leukemia" EXACT [OMIM:223350]
xref: MESH:C565617 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223350 {source="MONDO:equivalentTo"}
xref: UMLS:C1857225 {source="OMIM:223350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565617
property_value: exactMatch http://identifiers.org/omim/223350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857225

[Term]
id: MONDO:0009123
name: dopamine beta-hydroxylase deficiency
def: "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." [Orphanet:230]
subset: gard_rare {source="GARD:0001903"}
subset: ordo_disease {source="Orphanet:230"}
synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [DOID:0090145]
synonym: "dopamine beta hydroxylase deficiency" RELATED [GARD:0001903]
synonym: "dopamine BETA-HYDROXYLASE deficiency, congenital" RELATED [OMIM:223360]
synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230]
synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230]
xref: DOID:0090145 {source="MONDO:equivalentTo"}
xref: GARD:0001903 {source="MONDO:equivalentTo"}
xref: GARD:1903 {source="DOID:0090145"}
xref: ICD10:G90.8 {source="ORDO:230/attributed", source="ORDO:230/ntbt", source="Orphanet:230"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535600 {source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230", source="MONDO:ontobio"}
xref: OMIM:223360 {source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230"}
xref: Orphanet:230 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145"}
xref: SCTID:237923004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342687 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230"}
is_a: MONDO:0017759 {source="Orphanet:230", source="linkedlifedata"} ! disorder of catecholamine synthesis
is_a: MONDO:0019058 {source="Orphanet:230"} ! neurometabolic disease
is_a: MONDO:0020169 {source="Orphanet:230"} ! rare disorder with ptosis
is_a: MONDO:0021272 ! inherited orthostatic hypotension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857209
property_value: exactMatch DOID:0090145
property_value: exactMatch http://identifiers.org/mesh/C535600
property_value: exactMatch http://identifiers.org/omim/223360
property_value: exactMatch http://identifiers.org/snomedct/237923004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342687
property_value: exactMatch Orphanet:230
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency xsd:anyURI {source="GARD:0001903"}

[Term]
id: MONDO:0009124
name: Dubowitz syndrome
def: "Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." [Orphanet:235]
subset: gard_rare {source="GARD:0006290"}
subset: ordo_malformation_syndrome {source="Orphanet:235"}
synonym: "Dubowitz syndrome" EXACT [OMIM:223370]
synonym: "Dubowitz's syndrome" EXACT [DOID:14796]
synonym: "dwarfism-eczema-peculiar facies syndrome" RELATED [GARD:0006290]
synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED [GARD:0006290]
xref: DOID:14796 {source="MONDO:equivalentTo"}
xref: GARD:0006290 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:235", source="ORDO:235/inclusion", source="DOID:14796", source="ORDO:235/ntbt"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059589 {source="Orphanet:235", source="ORDO:235/e", source="DOID:14796"}
xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:235/e", source="DOID:14796"}
xref: NCIT:C125591 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:223370 {source="Orphanet:235", source="MONDO:equivalentTo", source="ORDO:235/e", source="DOID:14796"}
xref: Orphanet:235 {source="OMIM:223370", source="MONDO:equivalentTo"}
xref: SCTID:2593002 {source="MONDO:equivalentTo", source="DOID:14796", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175691 {source="NCIT:C125591", source="OMIM:223370", source="Orphanet:235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:235/e", source="DOID:14796"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:235", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:235"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:235", source="linkedlifedata/inferred"} ! malformation syndrome with short stature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:235"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020169 {source="Orphanet:235"} ! rare disorder with ptosis
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:14796
property_value: exactMatch http://identifiers.org/meddra/10059589
property_value: exactMatch http://identifiers.org/mesh/C535718
property_value: exactMatch http://identifiers.org/omim/223370
property_value: exactMatch http://identifiers.org/snomedct/2593002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175691
property_value: exactMatch NCIT:C125591
property_value: exactMatch Orphanet:235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome xsd:anyURI {source="GARD:0006290"}

[Term]
id: MONDO:0009125
name: dopamine beta-hydroxylase, plasma, thermolability of
synonym: "dopamine beta-hydroxylase, plasma, thermolability of" EXACT [OMIM:223380]
xref: OMIM:223380 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857198
property_value: exactMatch http://identifiers.org/omim/223380

[Term]
id: MONDO:0009126
name: duodenal atresia (disease)
def: "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." [Orphanet:1203]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:1203"}
synonym: "atresia of duodenum" EXACT [NCIT:C101025]
synonym: "congenital atresia of duodenum" EXACT [NCIT:C101025]
synonym: "congenital duodenal atresia" EXACT [NCIT:C101025]
synonym: "duodenal atresia" EXACT [MONDO:ambiguous, OMIM:223400]
synonym: "duodenal stenosis" RELATED [GARD:0000054]
xref: DOID:0080216 {source="MONDO:equivalentTo"}
xref: GARD:0000054 {source="MONDO:equivalentTo"}
xref: HP:0002247 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q41.0 {source="ORDO:1203/ntbt", source="Orphanet:1203", source="ORDO:1203/inclusion"}
xref: ICD9:751.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10013812 {source="ORDO:1203/e", source="Orphanet:1203"}
xref: MESH:C535720 {source="ORDO:1203/e", source="MONDO:equivalentTo", source="Orphanet:1203", source="MONDO:ontobio"}
xref: NCIT:C101025 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:223400 {source="GARD:0000054", source="ORDO:1203/e", source="MONDO:equivalentTo", source="Orphanet:1203", source="DOID:0080216"}
xref: Orphanet:1203 {source="GARD:0000054", source="MONDO:equivalentTo", source="OMIM:223400"}
xref: SCTID:51118003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
xref: UMLS:C0266174 {source="ORDO:1203/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1203", source="NCIT:C101025", source="OMIM:223400"}
is_a: MONDO:0001045 {source="DOID:0080216", source="NCIT:C101025/inferred"} ! intestinal atresia (disease)
is_a: MONDO:0015209 {source="Orphanet:1203"} ! non-syndromic gastroduodenal malformation
is_a: MONDO:0015211 {source="Orphanet:1203"} ! non-syndromic intestinal malformation
property_value: exactMatch DOID:0080216
property_value: exactMatch http://identifiers.org/meddra/10013812
property_value: exactMatch http://identifiers.org/mesh/C535720
property_value: exactMatch http://identifiers.org/omim/223400
property_value: exactMatch http://identifiers.org/snomedct/51118003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266174
property_value: exactMatch NCIT:C101025
property_value: exactMatch Orphanet:1203

[Term]
id: MONDO:0009127
name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
subset: gard_rare {source="GARD:0003293"}
synonym: "dwarfism, low-birth-weight type with unresponsiveness to growth hormone" RELATED [GARD:0003293]
synonym: "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" EXACT [OMIM:223500]
xref: GARD:0003293 {source="MONDO:equivalentTo"}
xref: MESH:C565615 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223500 {source="MONDO:equivalentTo"}
xref: UMLS:C1857197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:223500"}
is_a: MONDO:0003847 {source="MESH:C565615/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565615
property_value: exactMatch http://identifiers.org/omim/223500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857197
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone xsd:anyURI {source="GARD:0003293"}

[Term]
id: MONDO:0009128
name: dwarfism, mental retardation, and eye abnormality
synonym: "dwarfism, mental retardation, and eye abnormality" EXACT [OMIM:223540]
synonym: "Mollica syndrome" RELATED [OMIM:223540]
xref: MESH:C535809 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223540 {source="MONDO:equivalentTo"}
xref: Orphanet:2650 {source="OMIM:223540", source="MONDO:equivalentTo"}
xref: UMLS:C0796076 {source="OMIM:223540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C535809/inferred", source="Orphanet:2650/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535809
property_value: exactMatch http://identifiers.org/omim/223540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796076
property_value: exactMatch Orphanet:2650

[Term]
id: MONDO:0009129
name: dwarfism, proportionate, with hip dislocation
subset: gard_rare {source="GARD:0010606"}
synonym: "dwarfism, proportionate with hip dislocation" RELATED [GARD:0010606]
synonym: "dwarfism, proportionate, with hip dislocation" EXACT [OMIM:223550]
xref: GARD:0010606 {source="MONDO:equivalentTo"}
xref: MESH:C565614 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:223550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857196 {source="NCBI:mim2gene_medline", source="OMIM:223550", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565614/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565614
property_value: exactMatch http://identifiers.org/omim/223550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857196
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation xsd:anyURI {source="GARD:0010606"}

[Term]
id: MONDO:0009130
name: Dyggve-Melchior-Clausen disease
def: "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term)." [Orphanet:239]
subset: ordo_disease {source="Orphanet:239"}
synonym: "DMC" RELATED [MONDO:Lexical, OMIM:223800]
synonym: "DMC disease" EXACT [DOID:0111167]
synonym: "DMC syndrome" RELATED [GARD:0006295]
synonym: "Dyggve-Melchior-Clausen disease" EXACT [MONDO:Lexical, OMIM:223800]
synonym: "Dyggve-Melchior-Clausen disease; DMC" RELATED [OMIM:223800]
synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844]
synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167]
xref: DOID:0111167 {source="MONDO:equivalentTo"}
xref: GARD:0006295 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.7 {source="Orphanet:239", source="ORDO:239/attributed", source="ORDO:239/ntbt"}
xref: NCIT:C124844 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:223800 {source="ORDO:239/e", source="Orphanet:239", source="MONDO:equivalentTo", source="DOID:0111167"}
xref: Orphanet:239 {source="MONDO:equivalentTo", source="OMIM:223800"}
xref: SCTID:82699004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265286 {source="ORDO:239/e", source="NCBI:mim2gene_medline", source="Orphanet:239", source="MONDO:equivalentTo", source="NCIT:C124844", source="OMIM:223800"}
is_a: MONDO:0002254 {source="MONDOLEX:0009130", source="NCIT:C124844"} ! syndromic disease
is_a: MONDO:0016761 {source="DOID:0111167", source="Orphanet:239", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: exactMatch DOID:0111167
property_value: exactMatch http://identifiers.org/mesh/C535726
property_value: exactMatch http://identifiers.org/omim/223800
property_value: exactMatch http://identifiers.org/snomedct/82699004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265286
property_value: exactMatch NCIT:C124844
property_value: exactMatch Orphanet:239

[Term]
id: MONDO:0009131
name: Riley-Day syndrome
def: "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." [NCIT:C84706]
subset: ordo_disease {source="Orphanet:1764"}
synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, OMIM:223900]
synonym: "familial autonomic nervous dysfunction" RELATED [CSP2005:0725-5371, DOID:11589]
synonym: "familial dysautonomia" EXACT [DOID:11589, https://en.wikipedia.org/wiki/Familial_dysautonomia, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706]
synonym: "hereditary sensory and autonomic neuropathy 3" RELATED [GARD:0007581]
synonym: "hereditary sensory and autonomic neuropathy type 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, Orphanet:1764]
synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Orphanet:1764]
synonym: "hereditary sensory neuropathy type 3" RELATED [GARD:0007581]
synonym: "HSAN 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900]
synonym: "HSAN III" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706]
synonym: "HSAN3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, MONDO:Lexical, OMIM:223900, Orphanet:1764]
synonym: "HSN 3" RELATED [GARD:0007581]
synonym: "neuropathy, hereditary sensory and autonomic, type 3" RELATED [OMIM:223900]
synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:Lexical, NCIT:C84706, OMIM:223900]
synonym: "neuropathy, hereditary sensory and autonomic, type III; HSAN3" RELATED [OMIM:223900]
synonym: "Riley Day syndrome" RELATED [GARD:0007581]
synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764]
xref: COHD:4104196 {source="MONDO:equivalentTo"}
xref: DOID:11589 {source="MONDO:equivalentTo"}
xref: GARD:0007581 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G90.1 {source="DOID:11589", source="ORDO:1764/specific", source="ORDO:1764/e", source="Orphanet:1764"}
xref: MedDRA:10039179 {source="ORDO:1764/e", source="Orphanet:1764"}
xref: MESH:D004402 {source="DOID:11589", source="ORDO:1764/e", source="MONDO:equivalentTo", source="Orphanet:1764", source="MONDO:ontobio"}
xref: NCIT:C84706 {source="DOID:11589", source="MONDO:equivalentTo"}
xref: OMIM:223900 {source="DOID:11589", source="ORDO:1764/e", source="MONDO:equivalentTo", source="Orphanet:1764"}
xref: Orphanet:1764 {source="MONDO:equivalentTo", source="OMIM:223900"}
xref: SCTID:29159009 {source="DOID:11589", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0013364 {source="DOID:11589", source="ORDO:1764/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84706", source="Orphanet:1764", source="OMIM:223900"}
is_a: MONDO:0015366 {source="Orphanet:1764"} ! autosomal recessive hereditary sensory and autonomic neuropathy
is_a: MONDO:0015914 {source="Orphanet:1764"} ! primary orthostatic hypotension
is_a: MONDO:0018798 {source="Orphanet:1764"} ! other genetic dermis disorder
is_a: MONDO:0020194 {source="Orphanet:1764"} ! congenital alacrima
is_a: MONDO:0020262 {source="Orphanet:1764"} ! nervous system anomaly with eye involvement
is_a: MONDO:0021154 {source="Orphanet:1764"} ! dermis disease
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/204087006
property_value: exactMatch DOID:11589
property_value: exactMatch http://identifiers.org/meddra/10039179
property_value: exactMatch http://identifiers.org/mesh/D004402
property_value: exactMatch http://identifiers.org/omim/223900
property_value: exactMatch http://identifiers.org/snomedct/29159009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013364
property_value: exactMatch NCIT:C84706
property_value: exactMatch Orphanet:1764

[Term]
id: MONDO:0009132
name: dysautonomia-like disorder
subset: gard_rare {source="GARD:0009475"}
synonym: "dysautonomia like disorder" RELATED [GARD:0009475]
synonym: "dysautonomia-like disorder" EXACT [OMIM:224000]
xref: GARD:0009475 {source="MONDO:equivalentTo"}
xref: MESH:C535728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224000 {source="MONDO:equivalentTo"}
xref: UMLS:C1857153 {source="OMIM:224000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535728
property_value: exactMatch http://identifiers.org/omim/224000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857153
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder xsd:anyURI {source="GARD:0009475"}

[Term]
id: MONDO:0009133
name: dysequilibrium syndrome
def: "Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." [Orphanet:1766]
subset: gard_rare {source="GARD:0001998"}
subset: ordo_disease {source="Orphanet:1766"}
subset: prototype_pattern
synonym: "CAMRQ" EXACT [DOID:0050997]
synonym: "CAMRQ syndrome" EXACT [Orphanet:1766]
synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT [MONDO:0000564]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium" EXACT [OMIMPS:224050]
synonym: "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" EXACT [Orphanet:1766]
synonym: "cerebellar disorder, nonprogressive, with mental retardation" RELATED [GARD:0001998]
synonym: "cerebellar hypoplasia, VLDLR associated" RELATED [GARD:0001998]
synonym: "DES" RELATED [GARD:0001998]
synonym: "dialysis dysequilibrium syndrome" EXACT [NCIT:C114781]
synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EXACT [Orphanet:1766]
synonym: "VLDLRCH" RELATED [GARD:0001998]
xref: DOID:0050997 {source="MONDO:equivalentTo"}
xref: GARD:0001998 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:1766/attributed", source="ORDO:1766/ntbt", source="Orphanet:1766"}
xref: MedDRA:10013140 {source="ORDO:1766/e", source="Orphanet:1766"}
xref: MESH:C535731 {source="MONDO:equivalentTo", source="ORDO:1766/e", source="Orphanet:1766", source="MONDO:ontobio"}
xref: NCIT:C114781 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:224050 {source="MONDO:equivalentTo", source="DC:0000490"}
xref: Orphanet:1766 {source="MONDO:equivalentTo", source="OMIM:224050"}
xref: SCTID:230782004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0020043 {source="Orphanet:1766"} ! autosomal recessive congenital cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403559
property_value: exactMatch DOID:0050997
property_value: exactMatch http://identifiers.org/meddra/10013140
property_value: exactMatch http://identifiers.org/mesh/C535731
property_value: exactMatch http://identifiers.org/snomedct/230782004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0394006
property_value: exactMatch NCIT:C114781
property_value: exactMatch Orphanet:1766
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome xsd:anyURI {source="GARD:0001998"}

[Term]
id: MONDO:0009134
name: congenital dyserythropoietic anemia type 2
def: "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." [Orphanet:98873]
subset: ordo_disease {source="Orphanet:98873"}
synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [OMIM:224100]
synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical, OMIM:224100]
synonym: "anemia, congenital dyserythropoietic, type II; CDAN2" RELATED [OMIM:224100]
synonym: "anemia, dyserythropoietic, congenital type 2" RELATED [GARD:0002001]
synonym: "Cda 2" RELATED [OMIM:224100]
synonym: "CDA II" EXACT [Orphanet:98873]
synonym: "CDA type 2" EXACT [Orphanet:98873]
synonym: "CDA type II" EXACT [Orphanet:98873]
synonym: "CDAN2" RELATED [MONDO:Lexical, OMIM:224100]
synonym: "congenital dyserythropoietic anemia type 2" EXACT [Orphanet:98873]
synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [OMIM:224100]
synonym: "dyserythropoietic Anemia, hempas type" RELATED [OMIM:224100]
synonym: "hempas anemia" RELATED [GARD:0002001]
synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [Orphanet:98873]
synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100]
synonym: "SEC23B-CDG" EXACT [Orphanet:98873]
xref: GARD:0002001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D64.4 {source="MONDO:subClassOf", source="Orphanet:98873", source="ORDO:98873/attributed", source="ORDO:98873/ntbt"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="ORDO:98873/e"}
xref: Orphanet:98873 {source="OMIM:224100", source="MONDO:equivalentTo"}
xref: SCTID:68870007 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation
is_a: MONDO:0019403 {source="DC-OMIM:224100", source="OMIM:224100", source="Orphanet:98873", source="linkedlifedata"} ! congenital dyserythropoietic anemia
property_value: exactMatch http://identifiers.org/omim/224100
property_value: exactMatch http://identifiers.org/snomedct/68870007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306589
property_value: exactMatch Orphanet:98873

[Term]
id: MONDO:0009135
name: anemia, congenital dyserythropoietic, type 1a
synonym: "anemia, congenital dyserythropoietic, type 1" RELATED [OMIM:224120]
synonym: "anemia, congenital dyserythropoietic, type Ia" EXACT [MONDO:Lexical, OMIM:224120]
synonym: "anemia, congenital dyserythropoietic, type Ia; CDAN1A" RELATED [OMIM:224120]
synonym: "CDA Ia" RELATED [OMIM:224120]
synonym: "CDAN1A" RELATED [MONDO:Lexical, OMIM:224120]
synonym: "dyserythropoietic Anemia, congenital, type Ia" RELATED [OMIM:224120]
xref: OMIM:224120 {source="MONDO:equivalentTo"}
is_a: MONDO:0020337 {source="MONDOLEX:0009135"} ! congenital dyserythropoietic anemia type 1
property_value: exactMatch http://identifiers.org/omim/224120

[Term]
id: MONDO:0009136
name: dyskeratosis congenita, autosomal recessive 1
def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14." [DOID:0070015]
subset: gard_rare
subset: prototype_pattern
synonym: "autosomal recessive dyskeratosis congenita" RELATED [GARD:0006300]
synonym: "autosomal recessive dyskeratosis congenita 1" RELATED [DOID:0070015]
synonym: "DKCB" RELATED [GARD:0006300]
synonym: "DKCB1" EXACT [DOID:0070015, MONDO:Lexical, OMIM:224230]
synonym: "dyskeratosis congenita autosomal recessive" RELATED [GARD:0006300]
synonym: "dyskeratosis congenita, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:224230]
synonym: "dyskeratosis congenita, autosomal recessive 1; DKCB1" RELATED [OMIM:224230]
synonym: "dyskeratosis congenita, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:224230]
xref: DOID:0070015 {source="MONDO:equivalentTo"}
xref: GARD:0006300 {source="MONDO:equivalentTo"}
xref: MESH:C565611 {source="MONDO:equivalentTo"}
xref: OMIM:224230 {source="MONDO:equivalentTo", source="DOID:0070015", source="GARD:0006300"}
xref: SCTID:707272006 {source="MONDO:equivalentTo"}
xref: UMLS:C1857144 {source="OMIM:224230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0006300"}
is_a: MONDO:0015780 {source="DC-OMIM:224230", source="DOID:0070015", source="MESH:C565611", source="OMIM:224230"} ! dyskeratosis congenita
property_value: exactMatch DOID:0070015
property_value: exactMatch http://identifiers.org/mesh/C565611
property_value: exactMatch http://identifiers.org/omim/224230
property_value: exactMatch http://identifiers.org/snomedct/707272006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857144
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive xsd:anyURI {source="GARD:0006300"}

[Term]
id: MONDO:0009137
name: dysmyelination with jaundice
synonym: "dysmyelination with jaundice" EXACT [OMIM:224250]
xref: MESH:C565610 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224250 {source="MONDO:equivalentTo"}
xref: UMLS:C1857143 {source="OMIM:224250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565610/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565610
property_value: exactMatch http://identifiers.org/omim/224250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857143

[Term]
id: MONDO:0009138
name: dysosteosclerosis
def: "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." [Orphanet:1782]
subset: gard_rare {source="GARD:0002012"}
subset: ordo_malformation_syndrome {source="Orphanet:1782"}
synonym: "dysosteosclerosis" EXACT [OMIM:224300]
xref: GARD:0002012 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:1782", source="ORDO:1782/attributed", source="ORDO:1782/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562973 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224300 {source="ORDO:1782/e", source="Orphanet:1782", source="MONDO:equivalentTo"}
xref: Orphanet:1782 {source="MONDO:equivalentTo", source="OMIM:224300"}
xref: SCTID:254123002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432262 {source="ORDO:1782/e", source="Orphanet:1782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224300"}
is_a: MONDO:0017198 {source="Orphanet:1782"} ! osteopetrosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C562973
property_value: exactMatch http://identifiers.org/omim/224300
property_value: exactMatch http://identifiers.org/snomedct/254123002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432262
property_value: exactMatch Orphanet:1782
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis xsd:anyURI {source="GARD:0002012"}

[Term]
id: MONDO:0009139
name: dyssegmental dysplasia, Rolland-Desbuquois type
subset: gard_rare {source="GARD:0009810"}
subset: ordo_disease {source="Orphanet:156731"}
synonym: "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400]
synonym: "Ddrd" RELATED [OMIM:224400]
synonym: "dyssegmental dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400]
synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400]
xref: GARD:0009810 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:156731", source="ORDO:156731/attributed", source="ORDO:156731/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537999 {source="Orphanet:156731", source="ORDO:156731/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224400 {source="Orphanet:156731", source="ORDO:156731/e", source="MONDO:equivalentTo"}
xref: Orphanet:156731 {source="MONDO:equivalentTo", source="OMIM:224400"}
xref: SCTID:95243004 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0432209 {source="Orphanet:156731", source="NCBI:mim2gene_medline", source="ORDO:156731/e", source="MONDO:equivalentTo", source="OMIM:224400"}
is_a: MONDO:0016761 {source="Orphanet:156731"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537999
property_value: exactMatch http://identifiers.org/omim/224400
property_value: exactMatch http://identifiers.org/snomedct/95243004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432209
property_value: exactMatch Orphanet:156731
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type xsd:anyURI {source="GARD:0009810"}

[Term]
id: MONDO:0009140
name: Silverman-Handmaker type dyssegmental dysplasia
def: "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." [Orphanet:1865]
subset: gard_rare {source="GARD:0002026"}
subset: ordo_disease {source="Orphanet:1865"}
synonym: "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410]
synonym: "DDSH" RELATED [MONDO:Lexical, OMIM:224410]
synonym: "dyssegmental dwarfism Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410]
synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410]
synonym: "dyssegmental dysplasia, Silverman-Handmaker type; DDSH" RELATED [OMIM:224410]
xref: DOID:0090032 {source="MONDO:equivalentTo"}
xref: GARD:0002026 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="DOID:0090032", source="ORDO:1865/attributed", source="ORDO:1865/ntbt", source="Orphanet:1865"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537998 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224410 {source="DOID:0090032", source="MONDO:equivalentTo", source="ORDO:1865/e", source="Orphanet:1865"}
xref: Orphanet:1865 {source="DOID:0090032", source="MONDO:equivalentTo", source="OMIM:224410"}
xref: SCTID:93132001 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:1865"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019689 {source="Orphanet:1865"} ! perlecan-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432208
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857100
property_value: exactMatch DOID:0090032
property_value: exactMatch http://identifiers.org/mesh/C537998
property_value: exactMatch http://identifiers.org/omim/224410
property_value: exactMatch http://identifiers.org/snomedct/93132001
property_value: exactMatch Orphanet:1865
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type xsd:anyURI {source="GARD:0002026"}

[Term]
id: MONDO:0009141
name: torsion dystonia 2
def: "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." [Orphanet:99657]
subset: ordo_disease {source="Orphanet:99657"}
synonym: "autosomal recessive torsion dystonia 2" EXACT [NCIT:C123415]
synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:224500]
synonym: "dystonia 2, torsion, autosomal recessive; DYT2" RELATED [OMIM:224500]
synonym: "dystonia musculorum deformans 2" RELATED [OMIM:224500]
synonym: "dystonia musculorum deformans type 2" RELATED [GARD:0002028]
synonym: "dystonic disorder caused by mutation in HPCA" EXACT [MONDO:design_pattern]
synonym: "DYT2" EXACT [MONDO:Lexical, OMIM:224500, Orphanet:99657]
synonym: "HPCA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657]
synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028]
synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1]
xref: DOID:0090038 {source="MONDO:equivalentTo"}
xref: GARD:0002028 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="Orphanet:99657", source="DOID:0090038", source="ORDO:99657/attributed", source="ORDO:99657/ntbt"}
xref: MESH:C538006 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123415 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
xref: OMIM:224500 {source="ORDO:99657/e", source="Orphanet:99657", source="MONDO:equivalentTo", source="DOID:0090038"}
xref: Orphanet:99657 {source="MONDO:equivalentTo", source="DOID:0090038", source="OMIM:224500"}
xref: UMLS:C1857093 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224500", source="NCIT:C123415"}
is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090038
property_value: exactMatch http://identifiers.org/mesh/C538006
property_value: exactMatch http://identifiers.org/omim/224500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857093
property_value: exactMatch NCIT:C123415
property_value: exactMatch Orphanet:99657

[Term]
id: MONDO:0009142
name: dystonia with Ringbinden
synonym: "dystonia with Ringbinden" EXACT [OMIM:224550]
xref: MESH:C565608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857089 {source="OMIM:224550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565608
property_value: exactMatch http://identifiers.org/omim/224550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857089

[Term]
id: MONDO:0009143
name: Meier-Gorlin syndrome 1
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Ear, patella, short stature syndrome" RELATED [OMIM:224690]
synonym: "Meier-Gorlin syndrome" RELATED [OMIM:224690]
synonym: "Meier-Gorlin syndrome 1" EXACT [MONDO:Lexical, OMIM:224690]
synonym: "Meier-GORLIN syndrome 1; MGORS1" RELATED [OMIM:224690]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC1" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 1" EXACT [MONDORULE:1, OMIM:224690]
synonym: "MGORS1" RELATED [MONDO:Lexical, OMIM:224690]
synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [OMIM:224690]
synonym: "ORC1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:224690 {source="MONDO:equivalentTo"}
xref: SCTID:703508009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.37/0.09"}
xref: UMLS:CN030358 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016817 {source="DC-OMIM:224690", source="MONDO:Redundant", source="OMIM:224690"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/224690
property_value: exactMatch http://identifiers.org/snomedct/703508009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030358

[Term]
id: MONDO:0009144
name: Ebstein anomaly (disease)
def: "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." [Orphanet:1880]
subset: ordo_morphological_anomaly {source="Orphanet:1880"}
synonym: "Ebstein anomaly" EXACT [OMIM:224700]
synonym: "Ebstein anomaly of the tricuspid valve" EXACT [Orphanet:1880]
synonym: "Ebstein malformation" RELATED [Orphanet:1880]
synonym: "Ebstein's anomaly" EXACT [DOID:14289, ICD9CM_2006:746.2]
synonym: "Ebstein's anomaly (disorder) [ambiguous]" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of tricuspid valve" EXACT [NCIT:C84681]
synonym: "Ebstein's malformation" RELATED [GARD:0006313]
xref: COHD:4069182 {source="MONDO:equivalentTo"}
xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"}
xref: EFO:0007244 {source="MONDO:equivalentTo"}
xref: GARD:0006313 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q22.5 {source="Orphanet:1880", source="ORDO:1880/e", source="ORDO:1880/specific", source="DOID:14289"}
xref: ICD9:746.2 {source="DOID:14289"}
xref: MedDRA:10014075 {source="Orphanet:1880", source="ORDO:1880/e"}
xref: MESH:D004437 {source="MONDO:equivalentTo", source="DOID:14289", source="MONDO:ontobio", source="EFO:0007244"}
xref: NCIT:C84681 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14289"}
xref: OMIM:224700 {source="Orphanet:1880", source="ORDO:1880/e", source="MONDO:equivalentTo", source="DOID:14289"}
xref: Orphanet:1880 {source="MONDO:equivalentTo", source="OMIM:224700"}
xref: UMLS:C0013481 {source="Orphanet:1880", source="ORDO:1880/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84681", source="DOID:14289", source="OMIM:224700"}
is_a: MONDO:0005561 {source="EFO:0007244"} ! aortic disease
is_a: MONDO:0020289 {source="Orphanet:1880"} ! congenital tricuspid malformation
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} ! obsolete genetic cardiac malformation
property_value: closeMatch http://identifiers.org/snomedct/1796006
property_value: closeMatch http://identifiers.org/snomedct/204357006
property_value: exactMatch DOID:14289
property_value: exactMatch http://identifiers.org/meddra/10014075
property_value: exactMatch http://identifiers.org/mesh/D004437
property_value: exactMatch http://identifiers.org/omim/224700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013481
property_value: exactMatch NCIT:C84681
property_value: exactMatch Orphanet:1880

[Term]
id: MONDO:0009145
name: SchC6pf-Schulz-Passarge syndrome
def: "SchC6pf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." [Orphanet:50944]
subset: ordo_disease {source="Orphanet:50944"}
synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750]
synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944]
synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [OMIM:224750]
synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750]
synonym: "SCHOPF-Schulz-Passarge syndrome; SSPS" RELATED [OMIM:224750]
synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944]
synonym: "SSPS" EXACT [MONDO:Lexical, OMIM:224750, Orphanet:50944]
xref: ICD10:Q82.8 {source="ORDO:50944/attributed", source="ORDO:50944/ntbt", source="Orphanet:50944"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565607 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224750 {source="MONDO:equivalentTo", source="ORDO:50944/e", source="Orphanet:50944"}
xref: Orphanet:50944 {source="OMIM:224750", source="MONDO:equivalentTo"}
xref: SCTID:700062000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1857069 {source="MEDGEN:kboom-pr97-c99", source="OMIM:224750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:50944"}
is_a: MONDO:0015336 {source="Orphanet:50944"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015945 {source="Orphanet:50944"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017671 {source="Orphanet:50944"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019287 {source="MONDOLEX:0009145", source="Orphanet:50944"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565607
property_value: exactMatch http://identifiers.org/omim/224750
property_value: exactMatch http://identifiers.org/snomedct/700062000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857069
property_value: exactMatch Orphanet:50944

[Term]
id: MONDO:0009146
name: ectodermal dysplasia-sensorineural deafness syndrome
def: "Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." [Orphanet:1883]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1883"}
synonym: "congenital ectodermal dysplasia with hearing loss" RELATED [GARD:0009723]
synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [OMIM:224800]
synonym: "ectodermal dysplasia-sensorineural hearing loss syndrome" EXACT [Orphanet:1883]
synonym: "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" RELATED [GARD:0009723]
synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757]
xref: GARD:0009723 {source="MONDO:equivalentTo"}
xref: MESH:C535757 {source="MONDO:equivalentTo"}
xref: MESH:C565606 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:224800 {source="GARD:0009723", source="ORDO:1883/e", source="Orphanet:1883", source="MONDO:equivalentTo"}
xref: Orphanet:1883 {source="MONDO:equivalentTo", source="OMIM:224800"}
xref: UMLS:C1857068 {source="NCBI:mim2gene_medline", source="Orphanet:1883", source="MONDO:equivalentTo", source="OMIM:224800"}
is_a: MONDO:0019287 {source="MESH:C535757", source="MESH:C565606", source="MONDOLEX:0009146", source="Orphanet:1883"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 {source="Orphanet:1883"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931012
property_value: exactMatch http://identifiers.org/mesh/C535757
property_value: exactMatch http://identifiers.org/mesh/C565606
property_value: exactMatch http://identifiers.org/omim/224800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857068
property_value: exactMatch Orphanet:1883
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss xsd:anyURI {source="GARD:0009723"}

[Term]
id: MONDO:0009147
name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
synonym: "ECTD10B" RELATED [MONDO:Lexical, OMIM:224900]
synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:224900]
synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD10B" RELATED [OMIM:224900]
synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:224900]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:224900]
xref: OMIM:224900 {source="MONDO:equivalentTo"}
xref: UMLS:C3887494 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016619 {source="ORDO:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/224900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887494

[Term]
id: MONDO:0009148
name: Rosselli-Gulienetti syndrome
def: "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" [https://en.wikipedia.org/wiki/Rosselli%E2%80%93Gulienetti_syndrome]
comment: https://github.com/monarch-initiative/mondo/issues/432
subset: speculative
synonym: "Rosselli-Gulienetti syndrome" EXACT [OMIM:225000]
xref: MESH:C563117 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225000 {source="MONDO:equivalentTo"}
xref: Orphanet:90339 {source="OMIM:225000", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: UMLS:C0796139 {source="OMIM:225000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007124 {source="MONDO:cjm"} ! ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
property_value: exactMatch http://identifiers.org/mesh/C563117
property_value: exactMatch http://identifiers.org/omim/225000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796139
property_value: exactMatch Orphanet:90339

[Term]
id: MONDO:0009149
name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
def: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." [Orphanet:1812]
subset: ordo_malformation_syndrome {source="Orphanet:1812"}
synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040]
xref: ICD10:Q87.8 {source="ORDO:1812/attributed", source="ORDO:1812/ntbt", source="Orphanet:1812"}
xref: MESH:C565605 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225040 {source="MONDO:equivalentTo", source="ORDO:1812/e", source="Orphanet:1812"}
xref: Orphanet:1812 {source="MONDO:equivalentTo", source="OMIM:225040"}
xref: UMLS:C1857053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1812", source="OMIM:225040"}
is_a: MONDO:0019287 {source="MESH:C565605", source="MONDOLEX:0009149", source="Orphanet:1812"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565605
property_value: exactMatch http://identifiers.org/omim/225040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857053
property_value: exactMatch Orphanet:1812

[Term]
id: MONDO:0009150
name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
def: "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." [Orphanet:1882]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1882"}
synonym: "another syndrome" EXACT [GARD:0002049, Orphanet:1882]
synonym: "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049]
synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" RELATED [OMIM:225050]
synonym: "HEDH syndrome" EXACT [GARD:0002049, OMIM:225050, Orphanet:1882]
synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" RELATED [GARD:0002049]
synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049]
synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049]
xref: GARD:0002049 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="Orphanet:1882", source="ORDO:1882/attributed", source="ORDO:1882/ntbt"}
xref: MESH:C565604 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225050 {source="Orphanet:1882", source="ORDO:1882/e", source="GARD:0002049", source="MONDO:equivalentTo"}
xref: Orphanet:1882 {source="GARD:0002049", source="MONDO:equivalentTo", source="OMIM:225050"}
xref: SCTID:239050000 {source="MONDO:kboom-pr-1.00/0.75/7.09", source="MONDO:equivalentTo"}
is_a: MONDO:0015778 {source="Orphanet:1882"} ! syndromic hypothyroidism
is_a: MONDO:0019287 {source="MESH:C565604", source="MONDOLEX:0009150", source="Orphanet:1882", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857052
property_value: exactMatch http://identifiers.org/mesh/C565604
property_value: exactMatch http://identifiers.org/omim/225050
property_value: exactMatch http://identifiers.org/snomedct/239050000
property_value: exactMatch Orphanet:1882
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia xsd:anyURI {source="GARD:0002049"}

[Term]
id: MONDO:0009151
name: Zlotogora-Ogur syndrome
def: "Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." [Orphanet:3253]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3253"}
synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045]
synonym: "Bustos Simosa pinto Cisternas syndrome" RELATED [GARD:0001045]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060]
synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [DOID:0060773]
synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [MONDO:Lexical, OMIM:225060, Orphanet:3253]
synonym: "cleft lip/palate-ectodermal dysplasia syndrome; CLPED1" RELATED [OMIM:225060]
synonym: "cleft lip/palate-syndactyly-pili torti" RELATED [GARD:0000375]
synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [DOID:0060773, Orphanet:3253]
synonym: "CLPED1" EXACT [DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253]
synonym: "ectodermal dysplasia margarita island type" RELATED [GARD:0001045]
synonym: "ectodermal dysplasia type 4" RELATED [GARD:0001045]
synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED [GARD:0000375, OMIM:225060]
synonym: "ectodermal dysplasia, margarita Island type" RELATED [OMIM:225060]
synonym: "ectodermal dysplasia, type 4" RELATED [OMIM:225060]
synonym: "ED4" RELATED [GARD:0001045]
synonym: "margarita type of ectodermal dysplasia" EXACT [DOID:0060773]
synonym: "orofacial cleft 7" RELATED [OMIM:225060]
synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [DOID:0060773, Orphanet:3253]
synonym: "Zlotogora syndrome" RELATED [GARD:0000375]
synonym: "Zlotogora-Ogur syndrome" EXACT [OMIM:225060, Orphanet:3253]
synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773, Orphanet:3253]
xref: DOID:0060773 {source="MONDO:equivalentTo"}
xref: GARD:0000375 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0001045 {source="MONDO:equivalentTo"}
xref: NCIT:C122656 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07"}
xref: OMIM:225060 {source="GARD:0001045", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253", source="ORDO:3253/e"}
xref: Orphanet:3253 {source="DOID:0060773", source="MONDO:equivalentTo", source="OMIM:225060"}
xref: SCTID:716248001 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060", source="linkedlifedata", source="linkedlifedata/inferred"} ! orofacial cleft
is_a: MONDO:0006025 {source="DOID:0060773", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015335 {source="Orphanet:3253"} ! orofacial clefting syndrome
is_a: MONDO:0017911 {source="MONDOLEX:0009151", source="Orphanet:3253"} ! cleft lip/palate-ectodermal dysplasia syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833538
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857043
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931488
property_value: exactMatch DOID:0060773
property_value: exactMatch http://identifiers.org/mesh/C536726
property_value: exactMatch http://identifiers.org/omim/225060
property_value: exactMatch http://identifiers.org/snomedct/716248001
property_value: exactMatch NCIT:C122656
property_value: exactMatch Orphanet:3253

[Term]
id: MONDO:0009152
name: ectopia lentis 2, isolated, autosomal recessive
def: "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." [DOID:0111149]
synonym: "autosomal recessive isolated ectopia lentis" RELATED [GARD:0002060]
synonym: "autosomal recessive isolated ectopia lentis 2" RELATED [DOID:0111149]
synonym: "ECTOL2" EXACT [DOID:0111149, MONDO:Lexical, OMIM:225100]
synonym: "ectopia lentis 2, isolated, autosomal recessive" EXACT [MONDO:Lexical, OMIM:225100]
synonym: "ectopia lentis 2, isolated, autosomal recessive; ECTOL2" RELATED [OMIM:225100]
synonym: "ectopia lentis, isolated autosomal recessive" RELATED [GARD:0002060]
xref: DOID:0111149 {source="MONDO:equivalentTo"}
xref: GARD:0002060 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:225100 {source="DOID:0111149", source="MONDO:equivalentTo"}
xref: UMLS:C3541474 {source="OMIM:225100", source="MONDO:equivalentTo"}
is_a: MONDO:0015998 {source="DC-OMIM:225100", source="DOID:0111149"} ! isolated ectopia lentis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673634
property_value: exactMatch DOID:0111149
property_value: exactMatch http://identifiers.org/omim/225100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541474

[Term]
id: MONDO:0009153
name: ectopia lentis et pupillae
synonym: "ectopia lentis et pupillae" EXACT [OMIM:225200]
synonym: "ectopia lentis with ectopia of pupil" RELATED [OMIM:225200]
xref: MESH:C563268 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225200 {source="MONDO:equivalentTo"}
xref: SCTID:419237004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1644196 {source="NCBI:mim2gene_medline", source="OMIM:225200", source="MONDO:equivalentTo"}
is_a: MONDO:0015998 {source="ORDO:1885/btnt"} ! isolated ectopia lentis
property_value: exactMatch http://identifiers.org/mesh/C563268
property_value: exactMatch http://identifiers.org/omim/225200
property_value: exactMatch http://identifiers.org/snomedct/419237004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1644196

[Term]
id: MONDO:0009154
name: hypothyroidism, congenital, nongoitrous, 5
def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHNG5" EXACT [DOID:0070125, MONDO:Lexical, OMIM:225250]
synonym: "congenital nongoitrous hypothryoidism 5" RELATED [DOID:0070125]
synonym: "congenital nongoitrous hypothyroidism 5" RELATED [DOID:0070125]
synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, nongoitrous, 5" EXACT [MONDO:Lexical, OMIM:225250]
synonym: "hypothyroidism, congenital, nongoitrous, 5; CHNG5" RELATED [OMIM:225250]
synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1, OMIM:225250]
synonym: "NKX2-5 hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070125 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="DOID:0070125"}
xref: MESH:C567123 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225250 {source="MONDO:equivalentTo", source="DOID:0070125"}
xref: UMLS:C2673630 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225250"}
is_a: MONDO:0000045 {source="MONDO:Redundant", source="OMIM:225250"} ! hypothyroidism, congenital, nongoitrous
property_value: exactMatch DOID:0070125
property_value: exactMatch http://identifiers.org/mesh/C567123
property_value: exactMatch http://identifiers.org/omim/225250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673630

[Term]
id: MONDO:0009155
name: EEM syndrome
def: "EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." [Orphanet:1897]
subset: gard_rare {source="GARD:0002078"}
subset: ordo_malformation_syndrome {source="Orphanet:1897"}
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" RELATED [GARD:0002078]
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical, OMIM:225280]
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome; EEMS" RELATED [OMIM:225280]
synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [Orphanet:1897]
synonym: "EEM syndrome" EXACT [OMIM:225280]
synonym: "EEMS" RELATED [MONDO:Lexical, OMIM:225280]
xref: GARD:0002078 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1897/attributed", source="ORDO:1897/ntbt", source="Orphanet:1897"}
xref: MESH:C536190 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="ORDO:1897/e"}
xref: Orphanet:1897 {source="MONDO:equivalentTo", source="OMIM:225280"}
xref: SCTID:720856002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017432 {source="Orphanet:1897"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1897", source="Orphanet:1897/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019287 {source="MESH:C536190", source="MONDOLEX:0009155", source="Orphanet:1897", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020242 {source="Orphanet:1897", source="linkedlifedata"} ! genetic macular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C536190
property_value: exactMatch http://identifiers.org/omim/225280
property_value: exactMatch http://identifiers.org/snomedct/720856002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857041
property_value: exactMatch Orphanet:1897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome xsd:anyURI {source="GARD:0002078"}

[Term]
id: MONDO:0009156
name: ectrodactyly-polydactyly syndrome
def: "Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:1892]
subset: ordo_malformation_syndrome {source="Orphanet:1892"}
synonym: "ectrodactyly-polydactyly" RELATED [OMIM:225290]
xref: ICD10:Q74.8 {source="Orphanet:1892", source="ORDO:1892/attributed", source="ORDO:1892/ntbt"}
xref: MESH:C565601 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225290 {source="ORDO:1892/e", source="Orphanet:1892", source="MONDO:equivalentTo"}
xref: Orphanet:1892 {source="MONDO:equivalentTo", source="OMIM:225290"}
xref: UMLS:C1857040 {source="Orphanet:1892", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225290"}
is_a: MONDO:0017434 {source="Orphanet:1892"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C565601
property_value: exactMatch http://identifiers.org/omim/225290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857040
property_value: exactMatch Orphanet:1892

[Term]
id: MONDO:0009157
name: split hand-foot malformation 6
def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ectrodactyly, autosomal recessive" RELATED [OMIM:225300]
synonym: "SHFM6" EXACT [DOID:0090026, MONDO:Lexical, OMIM:225300]
synonym: "split hand-foot malformation caused by mutation in WNT10B" EXACT [MONDO:design_pattern]
synonym: "split hand-foot malformation type 6" EXACT [DOID:0090026, MONDORULE:1]
synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical, OMIM:225300]
synonym: "split-hand/foot malformation 6; SHFM6" RELATED [OMIM:225300]
synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1, OMIM:225300]
synonym: "WNT10B split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090026 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090026"}
xref: MESH:C567616 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225300 {source="MONDO:equivalentTo", source="DOID:0090026"}
xref: UMLS:C2749665 {source="MEDGEN:kboom-pr98-c99", source="OMIM:225300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016576 {source="DOID:0090026", source="MONDO:Redundant", source="OMIM:225300"} ! split hand-foot malformation
property_value: exactMatch DOID:0090026
property_value: exactMatch http://identifiers.org/mesh/C567616
property_value: exactMatch http://identifiers.org/omim/225300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749665

[Term]
id: MONDO:0009158
name: Ehlers-Danlos syndrome, fibronectinemic type
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." [Orphanet:75501]
subset: ordo_disease {source="Orphanet:75501"}
synonym: "EDS 10" RELATED [OMIM:225310]
synonym: "EDS X" EXACT [Orphanet:75501]
synonym: "EDS10 (formerly)" RELATED [GARD:0008508]
synonym: "Ehlers-Danlos syndrome type 10" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome type 10 (formerly)" RELATED [GARD:0008508]
synonym: "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome, dysfibronectinemic type" RELATED [OMIM:225310]
synonym: "Ehlers-Danlos syndrome, fibronectin-deficient" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome, type 10" RELATED [OMIM:225310]
synonym: "Ehlers-Danlos syndrome, type X (formerly)" RELATED [GARD:0008508]
synonym: "FN Abnormality" RELATED [OMIM:225310]
xref: GARD:0008508 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75501", source="ORDO:75501/attributed", source="ORDO:75501/ntbt"}
xref: MESH:C565600 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225310 {source="ORDO:75501/e", source="Orphanet:75501", source="MONDO:equivalentTo"}
xref: Orphanet:75501 {source="OMIM:225310", source="MONDO:equivalentTo"}
xref: SCTID:83586000 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0017142 {source="Orphanet:75501"} ! hemorrhagic disorder due to a qualitative platelet defect
is_a: MONDO:0020066 {source="MESH:C565600", source="MONDOLEX:0009158", source="Orphanet:75501", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857038
property_value: exactMatch http://identifiers.org/mesh/C565600
property_value: exactMatch http://identifiers.org/omim/225310
property_value: exactMatch http://identifiers.org/snomedct/83586000
property_value: exactMatch Orphanet:75501

[Term]
id: MONDO:0009159
name: Ehlers-Danlos syndrome, cardiac valvular type
def: "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [Orphanet:230851]
subset: ordo_disease {source="Orphanet:230851"}
synonym: "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac-valvular EDS" RELATED [GARD:0012613]
synonym: "Cardiac-valvular Ehlers-Danlos syndrome" RELATED [GARD:0012613]
synonym: "cvEDS" RELATED [GARD:0012613]
synonym: "EDS, cardiac valvular type" EXACT [Orphanet:230851]
synonym: "EDSCV" RELATED [OMIM:225320]
synonym: "Ehlers-Danlos syndrome, arthrochalasis type" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED [OMIM:225320]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type; EDSCV" RELATED [OMIM:225320]
xref: GARD:0012613 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:230851/attributed", source="ORDO:230851/ntbt", source="Orphanet:230851"}
xref: MESH:C536200 {source="MONDO:equivalentTo"}
xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="ORDO:230851/e"}
xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"}
xref: SCTID:720858001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0015506 {source="Orphanet:230851"} ! rare syndrome with cardiac malformations
is_a: MONDO:0020066 {source="DC-OMIM:225320", source="MESH:C536200", source="MONDOLEX:0009159", source="OMIM:225320", source="Orphanet:230851", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C536200
property_value: exactMatch http://identifiers.org/omim/225320
property_value: exactMatch http://identifiers.org/snomedct/720858001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857034
property_value: exactMatch Orphanet:230851

[Term]
id: MONDO:0009160
name: obsolete Ehlers-Danlos syndrome, type 6
is_obsolete: true
replaced_by: MONDO:0016002

[Term]
id: MONDO:0009161
name: Ehlers-Danlos syndrome, dermatosparaxis type
def: ", has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre." [Orphanet:1901]
subset: ordo_disease {source="Orphanet:1901"}
synonym: "dEDS" RELATED [GARD:0002089]
synonym: "dermatosparaxis" RELATED [OMIM:225410]
synonym: "dermatosparaxis EDS" RELATED [GARD:0002089]
synonym: "dermatosparaxis Ehlers-Danlos syndrome" RELATED [GARD:0002089]
synonym: "EDS 7C" RELATED [OMIM:225410]
synonym: "EDS VIIC" EXACT [Orphanet:1901]
synonym: "EDS7C" RELATED [OMIM:225410]
synonym: "EDSDERMS" RELATED [OMIM:225410]
synonym: "Ehlers-Danlos syndrome type 7C" EXACT [Orphanet:1901]
synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089]
synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT [OMIM:225410]
synonym: "Ehlers-Danlos syndrome, dermatosparaxis type; EDSDERMS" RELATED [OMIM:225410]
synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410]
xref: GARD:0002089 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:1901/attributed", source="ORDO:1901/ntbt", source="Orphanet:1901"}
xref: MESH:C567527 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225410 {source="MONDO:equivalentTo", source="Orphanet:1901", source="ORDO:1901/e"}
xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"}
xref: SCTID:55711009 {source="MONDO:kboom-pr-0.74/0.42/0.27", source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="DC-OMIM:225410", source="MESH:C567527", source="MONDOLEX:0009161", source="OMIM:225410", source="Orphanet:1901", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C567527
property_value: exactMatch http://identifiers.org/omim/225410
property_value: exactMatch http://identifiers.org/snomedct/55711009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700425
property_value: exactMatch Orphanet:1901

[Term]
id: MONDO:0009162
name: Ellis-van Creveld syndrome
def: "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." [Orphanet:289]
subset: gard_rare {source="GARD:0001301"}
subset: ordo_malformation_syndrome {source="Orphanet:289"}
synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM_2006:756.55, OMIM:225500, Orphanet:289]
synonym: "Ellis Van Creveld syndrome" RELATED [Orphanet:289]
synonym: "Ellis-van Creveld syndrome" EXACT [DOID:12714, MONDO:Lexical, MTHICD9_2006:756.55, OMIM:225500]
synonym: "Ellis-VAN Creveld syndrome; EVC" RELATED [OMIM:225500]
synonym: "EVC" RELATED [MONDO:Lexical, OMIM:225500]
synonym: "mesodermic dysplasia" EXACT [Orphanet:289]
synonym: "Mesoectodermal dysplasia" RELATED [OMIM:225500]
xref: DOID:12714 {source="MONDO:equivalentTo"}
xref: GARD:0001301 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.6 {source="ORDO:289/inclusion", source="DOID:12714", source="ORDO:289/ntbt", source="Orphanet:289"}
xref: ICD9:756.55 {source="DOID:12714", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008724 {source="ORDO:289/e", source="Orphanet:289"}
xref: MESH:D004613 {source="DOID:12714", source="MONDO:equivalentTo", source="ORDO:289/e", source="Orphanet:289"}
xref: NCIT:C84684 {source="DOID:12714", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:225500 {source="DOID:12714", source="MONDO:equivalentTo", source="ORDO:289/e", source="Orphanet:289"}
xref: Orphanet:289 {source="MONDO:equivalentTo", source="OMIM:225500"}
xref: SCTID:62501005 {source="DOID:12714", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013903 {source="DOID:12714", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225500", source="NCIT:C84684", source="ORDO:289/e", source="Orphanet:289"}
xref: UMLS:CN239258 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:12714", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015506 {source="Orphanet:289"} ! rare syndrome with cardiac malformations
is_a: MONDO:0018770 {source="OMIM:225500"} ! Jeune syndrome
is_a: MONDO:0019287 {source="MESH:D004613", source="MONDOLEX:0009162", source="Orphanet:289", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019721 {source="Orphanet:289"} ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:12714
property_value: exactMatch http://identifiers.org/meddra/10008724
property_value: exactMatch http://identifiers.org/mesh/D004613
property_value: exactMatch http://identifiers.org/omim/225500
property_value: exactMatch http://identifiers.org/snomedct/62501005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239258
property_value: exactMatch NCIT:C84684
property_value: exactMatch Orphanet:289
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome xsd:anyURI {source="GARD:0001301"}

[Term]
id: MONDO:0009163
name: encephalomalacia, multilocular
synonym: "encephalomalacia, multilocular" EXACT [OMIM:225700]
xref: MESH:C565597 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225700 {source="MONDO:equivalentTo"}
xref: UMLS:C1856991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565597
property_value: exactMatch http://identifiers.org/omim/225700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856991

[Term]
id: MONDO:0009164
name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
synonym: "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" EXACT [OMIM:225740]
synonym: "Lyon syndrome" RELATED [OMIM:225740]
xref: MESH:C565596 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225740 {source="MONDO:equivalentTo"}
xref: UMLS:C1856990 {source="OMIM:225740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565596
property_value: exactMatch http://identifiers.org/omim/225740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856990

[Term]
id: MONDO:0009165
name: Aicardi-Goutieres syndrome 1
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Ags" RELATED [OMIM:225750]
synonym: "AGS1" RELATED [MONDO:Lexical, OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1, autosomal dominant" RELATED [OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1; AGS1" RELATED [OMIM:225750]
synonym: "Aicardi-Goutieres syndrome caused by mutation in TREX1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 1" EXACT [MONDORULE:1, OMIM:225750]
synonym: "Cree encephalitis" RELATED [OMIM:225750]
synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [OMIM:225750]
synonym: "Pseudotoxoplasmosis syndrome" RELATED [OMIM:225750]
synonym: "TREX1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010893 {source="MONDO:equivalentTo"}
xref: OMIM:225750 {source="MONDO:equivalentTo"}
xref: UMLS:C0796126 {source="NCBI:mim2gene_medline", source="OMIM:225750", source="MONDO:equivalentTo"}
is_a: MONDO:0018866 {source="DC-OMIM:225750", source="MONDO:Redundant", source="OMIM:225750"} ! Aicardi-Goutieres syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150315
property_value: exactMatch http://identifiers.org/omim/225750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796126

[Term]
id: MONDO:0009166
name: pontocerebellar hypoplasia type 4
def: "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." [Orphanet:166063]
subset: gard_rare {source="GARD:0000343"}
subset: ordo_malformation_syndrome {source="Orphanet:166063"}
synonym: "encephalopathy fatal infantile with olivopontocerebellar hypoplasia" RELATED [GARD:0000343]
synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [OMIM:225753]
synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [Orphanet:166063]
synonym: "olivopontocerebellar hypoplasia" EXACT [Orphanet:166063]
synonym: "PCH4" EXACT [MONDO:Lexical, OMIM:225753, Orphanet:166063]
synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753]
synonym: "pontocerebellar hypoplasia, type 4; PCH4" RELATED [OMIM:225753]
xref: DOID:0060273 {source="MONDO:equivalentTo"}
xref: GARD:0000343 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:166063/attributed", source="ORDO:166063/ntbt", source="Orphanet:166063"}
xref: MESH:C536716 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"}
xref: OMIM:225753 {source="MONDO:equivalentTo", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"}
xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273"}
xref: SCTID:718608006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.13"}
xref: UMLS:C1856974 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225753", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"}
is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060273
property_value: exactMatch http://identifiers.org/mesh/C536716
property_value: exactMatch http://identifiers.org/omim/225753
property_value: exactMatch http://identifiers.org/snomedct/718608006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856974
property_value: exactMatch Orphanet:166063
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 xsd:anyURI {source="GARD:0000343"}

[Term]
id: MONDO:0009167
name: Bonnemann-Meinecke-Reich syndrome
def: "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." [Orphanet:1261]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1261"}
synonym: "Bonnemann Meinecke Reich syndrome" RELATED [GARD:0002113]
synonym: "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration" RELATED [GARD:0002113]
synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755]
synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261]
xref: GARD:0002113 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="ORDO:1261/attributed", source="ORDO:1261/ntbt", source="Orphanet:1261"}
xref: MESH:C565594 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225755 {source="GARD:0002113", source="MONDO:equivalentTo", source="ORDO:1261/e", source="Orphanet:1261"}
xref: Orphanet:1261 {source="MONDO:equivalentTo", source="OMIM:225755"}
xref: SCTID:733049004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856973 {source="GARD:0002113", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225755", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1261"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1261", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565594
property_value: exactMatch http://identifiers.org/omim/225755
property_value: exactMatch http://identifiers.org/snomedct/733049004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856973
property_value: exactMatch Orphanet:1261
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration xsd:anyURI {source="GARD:0002113"}

[Term]
id: MONDO:0009168
name: Fowler syndrome
subset: ordo_malformation_syndrome {source="Orphanet:221126"}
synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [Orphanet:221126]
synonym: "Encephaloclastic proliferative vasculopathy" EXACT [OMIM:225790, Orphanet:221126]
synonym: "hydranencephaly, fowler type" RELATED [OMIM:225790]
synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [OMIM:225790, Orphanet:221126]
synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" RELATED [MONDO:Lexical, OMIM:225790]
synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; PVHH" RELATED [OMIM:225790]
synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Orphanet:221126]
synonym: "PVHH" RELATED [MONDO:Lexical, OMIM:225790]
xref: ICD9:596.59 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071718 {source="ORDO:221126/e", source="Orphanet:221126"}
xref: MESH:C565593 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:225790 {source="ORDO:221126/e", source="MONDO:equivalentTo", source="Orphanet:221126"}
xref: Orphanet:221126 {source="OMIM:225790", source="MONDO:equivalentTo"}
xref: SCTID:700242002 {source="MONDO:kboom-pr-1.00/0.84/14.94", source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:221126"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856972
property_value: exactMatch http://identifiers.org/meddra/10071718
property_value: exactMatch http://identifiers.org/mesh/C565593
property_value: exactMatch http://identifiers.org/omim/225790
property_value: exactMatch http://identifiers.org/snomedct/700242002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3203738
property_value: exactMatch Orphanet:221126

[Term]
id: MONDO:0009169
name: endocardial fibroelastosis
def: "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." [Orphanet:2022]
comment: Editor notes: ORDO classifies as both familial and non-familial
subset: gard_rare {source="GARD:0006336"}
subset: ordo_disease {source="Orphanet:2022"}
synonym: "EFE" RELATED [MONDO:Lexical, OMIM:226000]
synonym: "Elastomyofibrosis" EXACT [DOID:12929, MTHICD9_2006:425.3]
synonym: "endocardial fibroelastosis" EXACT [MONDO:Lexical, OMIM:226000]
synonym: "endocardial fibroelastosis; EFE" RELATED [OMIM:226000]
synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022]
xref: COHD:314370 {source="MONDO:equivalentTo"}
xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"}
xref: EFO:0007251 {source="MONDO:equivalentTo"}
xref: GARD:0006336 {source="MONDO:equivalentTo"}
xref: ICD10:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="ORDO:2022/specific", source="DOID:12929", source="ORDO:2022/e"}
xref: ICD9:425.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12929"}
xref: MedDRA:10014663 {source="Orphanet:2022", source="ORDO:2022/e"}
xref: MESH:D004695 {source="MONDO:equivalentTo", source="DOID:12929", source="EFO:0007251", source="MONDO:ontobio"}
xref: NCIT:C98922 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12929"}
xref: OMIM:226000 {source="Orphanet:2022", source="MONDO:equivalentTo", source="DOID:12929", source="ORDO:2022/e"}
xref: Orphanet:2022 {source="OMIM:226000", source="MONDO:equivalentTo"}
xref: SCTID:65457005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12929"}
xref: UMLS:C0014117 {source="OMIM:226000", source="NCIT:C98922", source="Orphanet:2022", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12929", source="ORDO:2022/e"}
is_a: MONDO:0000470 {source="DOID:12929", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocardium disease
relationship: excluded_subClassOf MONDO:0016333 {source="MONDO:Redundant", source="Orphanet:2022"} ! familial dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016340 {source="MONDO:Redundant", source="Orphanet:2022"} ! familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:2022"} ! non-familial restrictive cardiomyopathy
property_value: exactMatch DOID:12929
property_value: exactMatch http://identifiers.org/meddra/10014663
property_value: exactMatch http://identifiers.org/mesh/D004695
property_value: exactMatch http://identifiers.org/omim/226000
property_value: exactMatch http://identifiers.org/snomedct/65457005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014117
property_value: exactMatch NCIT:C98922
property_value: exactMatch Orphanet:2022
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis xsd:anyURI {source="GARD:0006336"}

[Term]
id: MONDO:0009170
name: endocardial fibroelastosis and coarctation of abdominal aorta
synonym: "endocardial fibroelastosis and coarctation of abdominal aorta" EXACT [OMIM:226100]
xref: MESH:C565592 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226100 {source="MONDO:equivalentTo"}
xref: UMLS:C1856971 {source="OMIM:226100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565592
property_value: exactMatch http://identifiers.org/omim/226100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856971

[Term]
id: MONDO:0009171
name: endothelial dystrophy, congenital hereditary, with nail hypoplasia
synonym: "endothelial dystrophy, congenital hereditary, with nail hypoplasia" EXACT [OMIM:226110]
xref: MESH:C565591 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226110 {source="MONDO:equivalentTo"}
xref: UMLS:C1856970 {source="OMIM:226110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565591/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565591
property_value: exactMatch http://identifiers.org/omim/226110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856970

[Term]
id: MONDO:0009172
name: enterocolitis (disease)
def: "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." [NCIT:C79573]
synonym: "enterocolitis" EXACT [MONDO:ambiguous, OMIM:226150]
xref: EFO:1001481 {source="MONDO:equivalentTo"}
xref: HP:0004387 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004760 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C79573 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:226150 {source="MONDO:equivalentTo"}
xref: SCTID:43752006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.56"}
xref: UMLS:C0014356 {source="NCIT:C79573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226150"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/D004760
property_value: exactMatch http://identifiers.org/omim/226150
property_value: exactMatch http://identifiers.org/snomedct/43752006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014356
property_value: exactMatch NCIT:C79573

[Term]
id: MONDO:0009173
name: congenital enteropathy due to enteropeptidase deficiency
def: "Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." [Orphanet:168601]
subset: ordo_disease {source="Orphanet:168601"}
synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601]
synonym: "enterokinase deficiency" RELATED [OMIM:226200]
synonym: "enteropeptidase deficiency" RELATED [OMIM:226200]
xref: ICD10:K90.8 {source="ORDO:168601/attributed", source="ORDO:168601/ntbt", source="Orphanet:168601"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562649 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226200 {source="ORDO:168601/e", source="MONDO:equivalentTo", source="Orphanet:168601"}
xref: Orphanet:168601 {source="OMIM:226200", source="MONDO:equivalentTo"}
xref: SCTID:190952002 {source="MONDO:kboom-pr-0.74/0.46/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0268416 {source="OMIM:226200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168601"}
is_a: MONDO:0015181 {source="Orphanet:168601"} ! congenital intestinal disease due to an enzymatic defect
property_value: exactMatch http://identifiers.org/mesh/C562649
property_value: exactMatch http://identifiers.org/omim/226200
property_value: exactMatch http://identifiers.org/snomedct/190952002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268416
property_value: exactMatch Orphanet:168601

[Term]
id: MONDO:0009174
name: protein-losing enteropathy (disease)
def: "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." [MESH:D011504]
synonym: "CHAPLE" RELATED [OMIM:226300]
synonym: "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy" RELATED [OMIM:226300]
synonym: "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy; CHAPLE" RELATED [OMIM:226300]
synonym: "enteropathy, exudative" EXACT [DOID:10611, MTHICD9_2006:579.8]
synonym: "enteropathy, PROTEIN-losing" RELATED [OMIM:226300]
synonym: "exudative enteropathy" EXACT [DOID:10611]
synonym: "protein-losing enteropathy" EXACT [MONDO:ambiguous]
xref: DOID:10611 {source="MONDO:equivalentTo"}
xref: HP:0002243 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011504 {source="DOID:10611", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226300 {source="DOID:10611", source="MONDO:equivalentTo"}
xref: SCTID:22542007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:10611", source="MONDO:equivalentTo"}
xref: UMLS:C0033680 {source="DOID:10611", source="NCBI:mim2gene_medline", source="OMIM:226300", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005020 {source="DOID:10611", source="MESH:D011504", source="linkedlifedata"} ! intestinal disease
property_value: closeMatch http://identifiers.org/snomedct/66972006
property_value: exactMatch DOID:10611
property_value: exactMatch http://identifiers.org/mesh/D011504
property_value: exactMatch http://identifiers.org/omim/226300
property_value: exactMatch http://identifiers.org/snomedct/22542007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033680

[Term]
id: MONDO:0009175
name: eosinophilic fasciitis (disease)
def: "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." [Orphanet:3165]
subset: ordo_disease {source="Orphanet:3165"}
synonym: "diffuse fasciitis with eosinophilia" EXACT [Orphanet:3165]
synonym: "EF" RELATED [GARD:0006351]
synonym: "eosinophilic fasciitis" EXACT [MONDO:ambiguous, OMIM:226350]
synonym: "Shulman syndrome" EXACT [Orphanet:3165]
xref: GARD:0006351 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0045029 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M35.4 {source="Orphanet:3165", source="ORDO:3165/e"}
xref: ICD9:728.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10014954 {source="Orphanet:3165", source="ORDO:3165/e"}
xref: NCIT:C112116 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:226350 {source="MONDO:equivalentTo", source="Orphanet:3165", source="ORDO:3165/e"}
xref: Orphanet:3165 {source="MONDO:equivalentTo", source="OMIM:226350"}
xref: SCTID:24129002 {source="MONDO:kboom-pr-0.98/0.71/4.06", source="MONDO:equivalentTo"}
xref: UMLS:C0264005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C112116", source="OMIM:226350", source="Orphanet:3165", source="ORDO:3165/e"}
is_a: MONDO:0004830 {source="NCIT:C112116", source="linkedlifedata"} ! fasciitis (disease)
is_a: MONDO:0020122 {source="Orphanet:3165"} ! idiopathic inflammatory myopathy
property_value: exactMatch http://identifiers.org/meddra/10014954
property_value: exactMatch http://identifiers.org/omim/226350
property_value: exactMatch http://identifiers.org/snomedct/24129002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264005
property_value: exactMatch NCIT:C112116
property_value: exactMatch Orphanet:3165

[Term]
id: MONDO:0009176
name: epidermodysplasia verruciformis
def: "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." [Orphanet:302]
subset: gard_rare {source="GARD:0006357"}
subset: ordo_disease {source="Orphanet:302"}
synonym: "epidermodysplasia verruciformis" EXACT [MONDO:Lexical, OMIM:226400]
synonym: "epidermodysplasia verruciformis; EV" RELATED [OMIM:226400]
synonym: "EV" RELATED [MONDO:Lexical, OMIM:226400]
synonym: "ever" RELATED [OMIM:226400]
synonym: "Lewandowsky-Lutz dysplasia" EXACT [NCIT:C126877]
synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302]
synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302]
xref: DOID:13777 {source="MONDO:equivalentTo"}
xref: GARD:0006357 {source="MONDO:equivalentTo"}
xref: ICD10:B07 {source="Orphanet:302", source="ORDO:302/index", source="ORDO:302/ntbt"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10052339 {source="Orphanet:302", source="ORDO:302/e"}
xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:302/e"}
xref: NCIT:C126877 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:226400 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="ORDO:302/e"}
xref: OMIMPS:226400 {source="MONDO:equivalentTo"}
xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"}
xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126877", source="ORDO:302/e"}
is_a: MONDO:0018033 {source="Orphanet:302"} ! other immunodeficiency syndromes due to defects in innate immunity
is_a: MONDO:0019305 {source="Orphanet:302"} ! immune deficiency with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:13777", source="linkedlifedata"} ! autosomal recessive disease
property_value: exactMatch DOID:13777
property_value: exactMatch http://identifiers.org/meddra/10052339
property_value: exactMatch http://identifiers.org/mesh/D004819
property_value: exactMatch http://identifiers.org/omim/226400
property_value: exactMatch http://identifiers.org/snomedct/19138001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014522
property_value: exactMatch NCIT:C126877
property_value: exactMatch Orphanet:302
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis xsd:anyURI {source="GARD:0006357"}

[Term]
id: MONDO:0009177
name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:231556"}
synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299]
synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED [OMIM:226440]
xref: GARD:0000299 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q81.8 {source="ORDO:231556/attributed", source="ORDO:231556/ntbt", source="Orphanet:231556"}
xref: MESH:C535492 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226440 {source="MONDO:equivalentTo", source="ORDO:231556/e", source="Orphanet:231556"}
xref: Orphanet:231556 {source="OMIM:226440", source="MONDO:equivalentTo"}
xref: UMLS:C1856969 {source="OMIM:226440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:231556/e", source="Orphanet:231556"}
is_a: MONDO:0017612 {source="MONDOLEX:0009177", source="Orphanet:231556"} ! junctional epidermolysis bullosa
property_value: exactMatch http://identifiers.org/mesh/C535492
property_value: exactMatch http://identifiers.org/omim/226440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856969
property_value: exactMatch Orphanet:231556

[Term]
id: MONDO:0009178
name: epidermolysis bullosa dystrophica Neurotrophica
synonym: "epidermolysis bullosa dystrophica Neurotrophica" EXACT [OMIM:226500]
synonym: "epidermolysis bullosa progressiva, recessive" RELATED [OMIM:226500]
synonym: "epidermolysis bullosa with congenital deafness" RELATED [OMIM:226500]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562637 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226500 {source="MONDO:equivalentTo"}
xref: SCTID:254176007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.87"}
is_a: MONDO:0006543 {source="DC-OMIM:226500", source="MESH:C562637", source="MONDOLEX:0009178", source="linkedlifedata/inferred"} ! epidermolysis bullosa dystrophica
is_a: MONDO:0019276 ! inherited epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268368
property_value: exactMatch http://identifiers.org/mesh/C562637
property_value: exactMatch http://identifiers.org/omim/226500
property_value: exactMatch http://identifiers.org/snomedct/254176007

[Term]
id: MONDO:0009179
name: recessive dystrophic epidermolysis bullosa
def: "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." [Orphanet:79408]
subset: ordo_disease {source="Orphanet:79408"}
synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [DOID:0060642, Orphanet:79408]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" RELATED [GARD:0006308]
synonym: "dystrophic epidermolysis bullosa, autosomal recessive" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica inversa, autosomal recessive" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical, OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive; RDEB" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [OMIM:226600]
synonym: "RDEB" RELATED [MONDO:Lexical, OMIM:226600]
synonym: "RDEB generalisata gravis" EXACT [Orphanet:79408]
synonym: "RDEB, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408]
synonym: "RDEB, severe generalized" RELATED [GARD:0006308]
synonym: "RDEB-sev gen" EXACT [Orphanet:79408]
synonym: "recessive dystrophic epidermolysis bullosa, severe generalized" RELATED [GARD:0006308]
synonym: "severe generalized RDEB" EXACT [Orphanet:79408]
synonym: "severe generalized RDEB" NARROW [DOID:0060642]
synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642]
xref: DOID:0060642 {source="MONDO:equivalentTo"}
xref: GARD:0006308 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.2 {source="DOID:0060642", source="Orphanet:79408", source="ORDO:79408/attributed", source="ORDO:79408/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:226600 {source="ORDO:79408/e", source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408"}
xref: Orphanet:79408 {source="DOID:0060642", source="MONDO:equivalentTo", source="OMIM:226600"}
xref: SCTID:48528004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0006543 {source="DC-OMIM:226600", source="DOID:0060642", source="MONDOLEX:0009179", source="linkedlifedata"} ! epidermolysis bullosa dystrophica
is_a: MONDO:0016997 {source="Orphanet:79408"} ! hereditary epidermolysis bullosa associated with ocular features
is_a: MONDO:0017608 {source="Orphanet:79408"} ! dystrophic epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079474
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673611
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673612
property_value: exactMatch DOID:0060642
property_value: exactMatch http://identifiers.org/omim/226600
property_value: exactMatch http://identifiers.org/snomedct/48528004
property_value: exactMatch Orphanet:79408

[Term]
id: MONDO:0009180
name: junctional epidermolysis bullosa, non-Herlitz type
def: "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." [Orphanet:89840]
subset: ordo_disease {source="Orphanet:89840"}
synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [OMIM:226650]
synonym: "JEB-I" RELATED [OMIM:226650]
synonym: "JEB-nH" RELATED [GARD:0002151]
synonym: "JEN-nH" EXACT [Orphanet:89840]
synonym: "junctional epidermolysis bullosa inversa" RELATED [OMIM:226650]
xref: GARD:0002151 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q81.8 {source="ORDO:89840/attributed", source="ORDO:89840/ntbt", source="Orphanet:89840"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:226650 {source="MONDO:equivalentTo", source="ORDO:89840/e", source="Orphanet:89840"}
xref: Orphanet:89840 {source="OMIM:226650", source="MONDO:equivalentTo"}
xref: SCTID:33662006 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"}
is_a: MONDO:0017612 {source="DC-OMIM:226650", source="MONDOLEX:0009180", source="Orphanet:89840"} ! junctional epidermolysis bullosa
disjoint_from: MONDO:0009182 ! junctional epidermolysis bullosa Herlitz type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079297
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268374
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608084
property_value: exactMatch http://identifiers.org/omim/226650
property_value: exactMatch http://identifiers.org/snomedct/33662006
property_value: exactMatch Orphanet:89840

[Term]
id: MONDO:0009181
name: epidermolysis bullosa simplex with muscular dystrophy
def: "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." [Orphanet:257]
subset: gard_rare
subset: ordo_disease {source="Orphanet:257"}
synonym: "EBS-MD" EXACT [GARD:0002137, Orphanet:257]
synonym: "EBSMD" RELATED [MONDO:Lexical, OMIM:226670]
synonym: "Epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [GARD:0002137]
synonym: "Epidermolysa bullosa simplex with muscular dystrophy" RELATED [GARD:0002137]
synonym: "epidermolysis bullosa simplex - limb girdle muscular dystrophy" RELATED [GARD:0002137]
synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [DOID:0090017, OMIM:226670]
synonym: "epidermolysis bullosa simplex with muscular dystrophy" EXACT [MONDO:Lexical, OMIM:226670]
synonym: "epidermolysis bullosa simplex with muscular dystrophy; EBSMD" RELATED [OMIM:226670]
synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [DOID:0090017, Orphanet:257]
synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670]
synonym: "MDEBS" RELATED [GARD:0002137]
xref: DOID:0090017 {source="MONDO:equivalentTo"}
xref: GARD:0002137 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="Orphanet:257", source="DOID:0090017", source="ORDO:257/attributed", source="ORDO:257/ntbt"}
xref: MESH:C535955 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017", source="ORDO:257/e"}
xref: Orphanet:257 {source="OMIM:226670", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017"}
xref: SCTID:723308003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931072 {source="OMIM:226670", source="Orphanet:257", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015152 {source="Orphanet:257"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015331 {source="Orphanet:257"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015551 {source="Orphanet:257"} ! basal epidermolysis bullosa simplex
is_a: MONDO:0016198 {source="Orphanet:257"} ! qualitative or quantitative defects of plectin
is_a: MONDO:0016997 {source="Orphanet:257"} ! hereditary epidermolysis bullosa associated with ocular features
property_value: exactMatch DOID:0090017
property_value: exactMatch http://identifiers.org/mesh/C535955
property_value: exactMatch http://identifiers.org/omim/226670
property_value: exactMatch http://identifiers.org/snomedct/723308003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931072
property_value: exactMatch Orphanet:257
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy xsd:anyURI {source="GARD:0002137"}

[Term]
id: MONDO:0009182
name: junctional epidermolysis bullosa Herlitz type
def: "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." [Orphanet:79404]
subset: gard_rare {source="GARD:0002153"}
subset: ordo_disease {source="Orphanet:79404"}
synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [OMIM:226700]
synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, Orphanet:79404]
synonym: "epidermolysis bullosa, junctional, Herlitz type" RELATED [OMIM:226700]
synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [OMIM:226700]
synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [DOID:0060737]
synonym: "Herlitz-Pearson type epidermolysis bullosa" RELATED [GARD:0002153]
synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [DOID:0060737, OMIM:226700]
synonym: "JEB, generalized severe" EXACT [Orphanet:79404]
synonym: "JEB-H" EXACT [DOID:0060737, Orphanet:79404]
synonym: "JEB-Herlitz type" EXACT [DOID:0060737, OMIM:226700]
synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [DOID:0060737, Orphanet:79404]
synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphanet:79404]
synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153]
synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404]
xref: DOID:0060737 {source="MONDO:equivalentTo"}
xref: GARD:0002153 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.1 {source="Orphanet:79404", source="ORDO:79404/specific", source="DOID:0060737", source="ORDO:79404/e"}
xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="DOID:0060737", source="ORDO:79404/e"}
xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"}
xref: SCTID:400140006 {source="MONDO:equivalentTo"}
is_a: MONDO:0016997 {source="Orphanet:79404"} ! hereditary epidermolysis bullosa associated with ocular features
is_a: MONDO:0017612 {source="DC-OMIM:226700", source="DOID:0060737", source="MONDOLEX:0009182", source="Orphanet:79404"} ! junctional epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079683
property_value: exactMatch DOID:0060737
property_value: exactMatch http://identifiers.org/omim/226700
property_value: exactMatch http://identifiers.org/snomedct/400140006
property_value: exactMatch Orphanet:79404
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type xsd:anyURI {source="GARD:0002153"}

[Term]
id: MONDO:0009183
name: junctional epidermolysis bullosa with pyloric atresia
def: "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." [Orphanet:79403]
subset: gard_rare {source="GARD:0009694"}
subset: ordo_disease {source="Orphanet:79403"}
synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [OMIM:226730]
synonym: "Carmi syndrome" EXACT [DOID:0060733, OMIM:226730, Orphanet:79403]
synonym: "EB-Pa-ACC" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa JUNCTIONALIS with pyloric atresia" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [DOID:0060733]
synonym: "epidermolysis bullosa with pyloric atresia" RELATED [GARD:0009694]
synonym: "epidermolysis bullosa, junctional, with pyloric atresia" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita" RELATED [OMIM:226730]
synonym: "JEB-PA" EXACT [DOID:0060733, Orphanet:79403]
synonym: "JEB-Pa" RELATED [OMIM:226730]
synonym: "junctional epidermolysis bullosa - pyloric atresia" RELATED [GARD:0009694]
synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226730]
synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733]
xref: DOID:0060733 {source="MONDO:equivalentTo"}
xref: GARD:0009694 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.8 {source="Orphanet:79403", source="DOID:0060733", source="ORDO:79403/attributed", source="ORDO:79403/ntbt"}
xref: MESH:C535377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="DOID:0060733", source="ORDO:79403/e"}
xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"}
xref: UMLS:C1856934 {source="Orphanet:79403", source="MEDGEN:kboom-pr98-c99", source="OMIM:226730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017612 {source="DOID:0060733", source="MONDOLEX:0009183", source="Orphanet:79403"} ! junctional epidermolysis bullosa
property_value: exactMatch DOID:0060733
property_value: exactMatch http://identifiers.org/mesh/C535377
property_value: exactMatch http://identifiers.org/omim/226730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856934
property_value: exactMatch Orphanet:79403
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia xsd:anyURI {source="GARD:0009694"}

[Term]
id: MONDO:0009184
name: epidermolysis bullosa with diaphragmatic hernia
synonym: "epidermolysis bullosa with diaphragmatic hernia" EXACT [OMIM:226735]
xref: MESH:C565588 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226735 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565588/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856933
property_value: exactMatch http://identifiers.org/mesh/C565588
property_value: exactMatch http://identifiers.org/omim/226735

[Term]
id: MONDO:0009185
name: amelocerebrohypohidrotic syndrome
def: "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." [Orphanet:1946]
subset: ordo_malformation_syndrome {source="Orphanet:1946"}
synonym: "epilepsy and Yellow teeth" RELATED [OMIM:226750]
synonym: "epilepsy dementia amelogenesis imperfecta" RELATED [GARD:0003128]
synonym: "epilepsy, dementia, and amelogenesis imperfecta" RELATED [OMIM:226750]
synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [Orphanet:1946]
synonym: "Kohlschutter syndrome" RELATED [OMIM:226750]
synonym: "Kohlschutter Tonz syndrome" RELATED [GARD:0003128]
synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical, OMIM:226750]
synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946]
synonym: "KOHLSCHUTTER-Tonz syndrome; KTZS" RELATED [OMIM:226750]
synonym: "KTZS" RELATED [MONDO:Lexical, OMIM:226750]
xref: GARD:0003128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.8 {source="ORDO:1946/attributed", source="ORDO:1946/ntbt", source="Orphanet:1946"}
xref: MESH:C537213 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226750 {source="MONDO:equivalentTo", source="ORDO:1946/e", source="Orphanet:1946"}
xref: Orphanet:1946 {source="OMIM:226750", source="MONDO:equivalentTo"}
xref: SCTID:109478007 {source="MONDO:kboom-pr-1.00/0.75/6.82", source="MONDO:equivalentTo"}
xref: UMLS:C0406740 {source="OMIM:226750", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1946"}
is_a: MONDO:0015336 {source="Orphanet:1946"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:1946", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537213
property_value: exactMatch http://identifiers.org/omim/226750
property_value: exactMatch http://identifiers.org/snomedct/109478007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406740
property_value: exactMatch Orphanet:1946

[Term]
id: MONDO:0009186
name: epilepsy, photogenic, with spastic diplegia and mental retardation
synonym: "epilepsy, photogenic, with spastic diplegia and mental retardation" EXACT [OMIM:226800]
xref: MESH:C565587 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226800 {source="MONDO:equivalentTo"}
xref: UMLS:C1856931 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565587
property_value: exactMatch http://identifiers.org/omim/226800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856931

[Term]
id: MONDO:0009187
name: celiac disease-epilepsy-cerebral calcification syndrome
def: "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." [Orphanet:1459]
subset: ordo_disease {source="Orphanet:1459"}
synonym: "bilateral occipital calcifications with epilepsy" RELATED [GARD:0002166]
synonym: "CEC" EXACT [Orphanet:1459]
synonym: "celiac disease epilepsy occipital calcifications" RELATED [GARD:0002166]
synonym: "celiac disease, epilepsy, and cerebral calcification syndrome" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html]
synonym: "epilepsy occipital calcifications" RELATED [GARD:0002166]
synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810]
synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166]
xref: GARD:0002166 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535496 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226810 {source="MONDO:equivalentTo", source="Orphanet:1459", source="ORDO:1459/e"}
xref: Orphanet:1459 {source="MONDO:equivalentTo", source="OMIM:226810"}
xref: UMLS:C1856930 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226810"}
is_a: MONDO:0015657 {source="Orphanet:1459"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0100029 {source="http://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy
property_value: exactMatch http://identifiers.org/mesh/C535496
property_value: exactMatch http://identifiers.org/omim/226810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856930
property_value: exactMatch Orphanet:1459

[Term]
id: MONDO:0009188
name: epilepsy-telangiectasia syndrome
def: "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." [Orphanet:1951]
subset: ordo_disease {source="Orphanet:1951"}
synonym: "epilepsy telangiectasia" RELATED [GARD:0002168]
synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850]
synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168]
xref: GARD:0002168 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G40.8 {source="ORDO:1951/attributed", source="ORDO:1951/ntbt", source="Orphanet:1951"}
xref: MESH:C535497 {source="ORDO:1951/e", source="MONDO:equivalentTo", source="Orphanet:1951", source="MONDO:ontobio"}
xref: OMIM:226850 {source="ORDO:1951/e", source="MONDO:equivalentTo", source="Orphanet:1951"}
xref: Orphanet:1951 {source="OMIM:226850", source="MONDO:equivalentTo"}
xref: UMLS:C1856929 {source="ORDO:1951/e", source="NCBI:mim2gene_medline", source="OMIM:226850", source="MONDO:equivalentTo", source="Orphanet:1951"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1951", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015650 {source="Orphanet:1951"} ! epilepsy syndrome
property_value: exactMatch http://identifiers.org/mesh/C535497
property_value: exactMatch http://identifiers.org/omim/226850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856929
property_value: exactMatch Orphanet:1951

[Term]
id: MONDO:0009189
name: multiple epiphyseal dysplasia type 4
def: "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia (see this term) with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B (see these terms) with whom it forms a clinical continuum." [Orphanet:93307]
subset: ordo_disease {source="Orphanet:93307"}
synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [Orphanet:93307]
synonym: "EDM4" EXACT [MONDO:Lexical, OMIM:226900, Orphanet:93307]
synonym: "epiphyseal dysplasia multiple 4" RELATED [GARD:0009793]
synonym: "epiphyseal dysplasia, multiple, 4" RELATED [MONDO:Lexical, OMIM:226900]
synonym: "epiphyseal dysplasia, multiple, 4; EDM4" RELATED [OMIM:226900]
synonym: "epiphyseal dysplasia, multiple, type 4" EXACT [MONDORULE:1, OMIM:226900]
synonym: "MED4" EXACT [Orphanet:93307]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2" EXACT []
synonym: "multiple epiphyseal dysplasia 4" RELATED [GARD:0009793]
synonym: "multiple epiphyseal dysplasia with Bilayered patellae" RELATED [OMIM:226900]
synonym: "multiple epiphyseal dysplasia with clubfoot" RELATED [OMIM:226900]
synonym: "multiple epiphyseal dysplasia with double-layered patella" RELATED [GARD:0009793]
synonym: "multiple epiphyseal dysplasia, autosomal recessive" RELATED [OMIM:226900]
synonym: "Polyepiphyseal dysplasia type 4" EXACT [Orphanet:93307]
synonym: "rMED" EXACT [Orphanet:93307]
synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0070300 {source="MONDO:equivalentTo"}
xref: GARD:0009793 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q77.3 {source="MONDO:relatedTo", source="ORDO:93307/attributed", source="ORDO:93307/ntbt", source="Orphanet:93307"}
xref: MESH:C535504 {source="MONDO:equivalentTo", source="ORDO:93307/e", source="MONDO:ontobio", source="Orphanet:93307"}
xref: OMIM:226900 {source="MONDO:equivalentTo", source="ORDO:93307/e", source="Orphanet:93307"}
xref: Orphanet:93307 {source="MONDO:equivalentTo", source="OMIM:226900"}
xref: SCTID:715672007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847593 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93307/e", source="OMIM:226900", source="Orphanet:93307"}
is_a: MONDO:0016648 {source="DC-OMIM:226900", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307", source="linkedlifedata"} ! multiple epiphyseal dysplasia (disease)
is_a: MONDO:0019688 {source="Orphanet:93307"} ! sulfation-related bone disorder
property_value: exactMatch DOID:0070300
property_value: exactMatch http://identifiers.org/mesh/C535504
property_value: exactMatch http://identifiers.org/omim/226900
property_value: exactMatch http://identifiers.org/snomedct/715672007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847593
property_value: exactMatch Orphanet:93307

[Term]
id: MONDO:0009190
name: epiphyseal dysplasia of femoral head, myopia, and deafness
synonym: "epiphyseal dysplasia of femoral head, myopia, and deafness" EXACT [OMIM:226950]
xref: MESH:C565585 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226950 {source="MONDO:equivalentTo"}
xref: UMLS:C1856918 {source="OMIM:226950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565585/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565585
property_value: exactMatch http://identifiers.org/omim/226950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856918

[Term]
id: MONDO:0009191
name: Lowry-Wood syndrome
def: "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive." [Orphanet:1824]
subset: gard_rare {source="GARD:0000264"}
subset: ordo_disease {source="Orphanet:1824"}
synonym: "epiphyseal dysplasia, microcephaly and nystagmus" RELATED [GARD:0000264]
synonym: "epiphyseal dysplasia, microcephaly, and NYSTAGMUS" RELATED [OMIM:226960]
synonym: "epiphyseal dysplasia-microcephaly-nystagmus syndrome" EXACT [Orphanet:1824]
synonym: "Lowry Wood syndrome" RELATED [GARD:0000264]
synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960]
synonym: "LWS" RELATED [GARD:0000264]
xref: GARD:0000264 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:1824/attributed", source="ORDO:1824/ntbt", source="Orphanet:1824"}
xref: MedDRA:10062600 {source="Orphanet:1824", source="ORDO:1824/e"}
xref: MESH:C537038 {source="MONDO:equivalentTo", source="Orphanet:1824", source="MONDO:ontobio", source="ORDO:1824/e"}
xref: OMIM:226960 {source="MONDO:equivalentTo", source="Orphanet:1824", source="ORDO:1824/e"}
xref: Orphanet:1824 {source="OMIM:226960", source="MONDO:equivalentTo"}
xref: SCTID:721975004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C0796021 {source="NCBI:mim2gene_medline", source="OMIM:226960", source="MONDO:equivalentTo", source="Orphanet:1824", source="ORDO:1824/e"}
is_a: MONDO:0019692 {source="Orphanet:1824"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: exactMatch http://identifiers.org/meddra/10062600
property_value: exactMatch http://identifiers.org/mesh/C537038
property_value: exactMatch http://identifiers.org/omim/226960
property_value: exactMatch http://identifiers.org/snomedct/721975004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796021
property_value: exactMatch Orphanet:1824
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome xsd:anyURI {source="GARD:0000264"}

[Term]
id: MONDO:0009192
name: Wolcott-Rallison syndrome
def: "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." [Orphanet:1667]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1667"}
synonym: "early-onset diabetes mellitus with multiple epiphyseal dysplasia" EXACT [Orphanet:1667]
synonym: "epiphyseal dysplasia multiple with early-onset diabetes mellitus" RELATED [GARD:0005589]
synonym: "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" RELATED [OMIM:226980]
synonym: "IDDM-MED syndrome" RELATED [GARD:0005589]
synonym: "Iddm-Med syndrome" RELATED [OMIM:226980]
synonym: "MED-IDDM syndrome" RELATED [GARD:0005589]
synonym: "Med-Iddm syndrome" RELATED [OMIM:226980]
synonym: "Wolcott Rallison syndrome" RELATED [GARD:0005589]
synonym: "Wolcott-Rallison syndrome" EXACT [OMIM:226980]
synonym: "WRS" EXACT [Orphanet:1667]
xref: DOID:0090060 {source="MONDO:equivalentTo"}
xref: GARD:0005589 {source="MONDO:equivalentTo"}
xref: ICD10:E13 {source="ORDO:1667/attributed", source="ORDO:1667/ntbt", source="Orphanet:1667", source="DOID:0090060"}
xref: MESH:C536739 {source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667", source="MONDO:ontobio"}
xref: NCIT:C131007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667", source="DOID:0090060"}
xref: Orphanet:1667 {source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="DOID:0090060"}
xref: SCTID:254066006 {source="MONDO:kboom-pr-1.00/0.79/7.43", source="MONDO:equivalentTo"}
xref: UMLS:C0432217 {source="NCIT:C131007", source="GARD:0005589", source="OMIM:226980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0009192", source="NCIT:C131007"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0090060", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015888 {source="Orphanet:1667"} ! other rare diabetes mellitus
is_a: MONDO:0016761 {source="Orphanet:1667"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0090060
property_value: exactMatch http://identifiers.org/mesh/C536739
property_value: exactMatch http://identifiers.org/omim/226980
property_value: exactMatch http://identifiers.org/snomedct/254066006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432217
property_value: exactMatch NCIT:C131007
property_value: exactMatch Orphanet:1667
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus xsd:anyURI {source="GARD:0005589"}

[Term]
id: MONDO:0009193
name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract
synonym: "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" EXACT [OMIM:226985]
xref: MESH:C565584 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:226985 {source="MONDO:equivalentTo"}
xref: UMLS:C1856902 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226985"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565584
property_value: exactMatch http://identifiers.org/omim/226985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856902

[Term]
id: MONDO:0009194
name: chronic Epstein-Barr virus infection syndrome
def: "Chronic active Epstein-Barr virus infection (CAEBV) is a rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." [GARD:0009534]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2566"}
synonym: "CAEBV infection" RELATED [GARD:0009534]
synonym: "CAEBV syndrome" EXACT [Orphanet:2566]
synonym: "CEBV" RELATED [GARD:0009534]
synonym: "chronic active Epstein-Barr disease" RELATED [GARD:0009534]
synonym: "chronic active Epstein-Barr virus infection" RELATED [GARD:0009534]
synonym: "chronic EBV infection syndrome" EXACT [Orphanet:2566]
synonym: "Epstein-Barr VIRUS, susceptibility to chronic infection by" RELATED [OMIM:226990]
synonym: "IMD32B" RELATED [OMIM:226990]
synonym: "immunodeficiency 32B" RELATED [OMIM:226990]
synonym: "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" RELATED [OMIM:226990]
synonym: "immunodeficiency 32B; IMD32B" RELATED [OMIM:226990]
xref: GARD:0009534 {source="MONDO:equivalentTo"}
xref: ICD10:B27.0 {source="Orphanet:2566", source="ORDO:2566/ntbt"}
xref: OMIM:226990 {source="Orphanet:2566", source="ORDO:2566/e", source="MONDO:equivalentTo", source="GARD:0009534"}
xref: Orphanet:2566 {source="OMIM:226990", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005108 {source="Orphanet:2566"} ! viral infectious disease
is_a: MONDO:0021674 ! post-viral disorder
relationship: disease_arises_from_feature MONDO:0005111 ! Epstein-Barr virus infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856901
property_value: exactMatch http://identifiers.org/omim/226990
property_value: exactMatch Orphanet:2566
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection xsd:anyURI {source="GARD:0009534"}

[Term]
id: MONDO:0009195
name: erythema of acral regions
synonym: "erythema of acral regions" EXACT [OMIM:227000]
xref: OMIM:227000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856900
property_value: exactMatch http://identifiers.org/omim/227000

[Term]
id: MONDO:0009196
name: ermine phenotype
def: "Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease." [Orphanet:999]
subset: gard_rare {source="GARD:0000407"}
subset: ordo_malformation_syndrome {source="Orphanet:999"}
synonym: "BADS" RELATED [OMIM:227010]
synonym: "BADS syndrome" RELATED [MSH:C562663]
synonym: "black locks with albinism and deafness syndrome" RELATED [MSH:C562663, OMIM:227010]
synonym: "black locks, oculocutaneous albinism, and deafness of the sensorineural type" RELATED []
synonym: "ermine phenotype" EXACT [OMIM:227010]
synonym: "O'Doherty syndrome" EXACT [Orphanet:999]
synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999]
xref: GARD:0000407 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="Orphanet:999", source="ORDO:999/attributed", source="ORDO:999/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MEDGEN:82812 {source="UMLS:C0268501"}
xref: MESH:C535508 {source="ORDO:999/e", source="Orphanet:999", source="MONDO:equivalentTo"}
xref: MESH:C562663 {source="MONDO:equivalentTo", source="UMLS:C0268501"}
xref: OMIM:227010 {source="ORDO:999/e", source="Orphanet:999", source="MONDO:equivalentTo", source="UMLS:C0268501"}
xref: Orphanet:999 {source="MONDO:equivalentTo", source="OMIM:227010"}
xref: SCTID:10170007 {source="MONDO:equivalentTo", source="UMLS:C0268501"}
xref: UMLS:C0268501 {source="MONDO:equivalentTo", source="OMIM:227010"}
xref: UMLS:C1856899 {source="MEDGEN:kboom-pr98-c99", source="ORDO:999/e", source="Orphanet:999", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227010"}
is_a: MONDO:0019589 {source="Orphanet:999"} ! syndromic genetic deafness
property_value: closeMatch http://identifiers.org/medgen/82812
property_value: exactMatch http://identifiers.org/mesh/C535508
property_value: exactMatch http://identifiers.org/mesh/C562663
property_value: exactMatch http://identifiers.org/omim/227010
property_value: exactMatch http://identifiers.org/snomedct/10170007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856899
property_value: exactMatch Orphanet:999
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype xsd:anyURI {source="GARD:0000407"}

[Term]
id: MONDO:0009197
name: transient erythroblastopenia of childhood
def: "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." [NCIT:C131683]
subset: gard_rare {source="GARD:0007793"}
subset: ordo_disease {source="Orphanet:98871"}
synonym: "erythroblastopenia, transient" RELATED [OMIM:227050]
synonym: "familial transient erythroblastopenia of childhood" RELATED [GARD:0007793]
synonym: "tec" RELATED [MONDO:Lexical, OMIM:227050]
synonym: "transient acquired pure red cell aplasia" EXACT [Orphanet:98871]
synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, OMIM:227050]
synonym: "transient erythroblastopenia of childhood; tec" RELATED [OMIM:227050]
xref: GARD:0007793 {source="MONDO:equivalentTo"}
xref: ICD10:D60.1 {source="ORDO:98871/e", source="Orphanet:98871"}
xref: ICD9:284.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536980 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:98871/e", source="Orphanet:98871"}
xref: NCIT:C131683 {source="MONDO:kboom-pr-0.93/0.86/0.17", source="MONDO:equivalentTo"}
xref: OMIM:227050 {source="MONDO:equivalentTo", source="ORDO:98871/e", source="Orphanet:98871"}
xref: Orphanet:98871 {source="MONDO:equivalentTo", source="OMIM:227050"}
xref: SCTID:191255003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0238478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227050", source="NCIT:C131683", source="ORDO:98871/e", source="Orphanet:98871"}
xref: UMLS:C0451688 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020113 {source="Orphanet:98871"} ! red cell aplasia
property_value: exactMatch http://identifiers.org/mesh/C536980
property_value: exactMatch http://identifiers.org/omim/227050
property_value: exactMatch http://identifiers.org/snomedct/191255003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0451688
property_value: exactMatch NCIT:C131683
property_value: exactMatch Orphanet:98871
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood xsd:anyURI {source="GARD:0007793"}

[Term]
id: MONDO:0009198
name: congenital lethal erythroderma
def: "Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." [Orphanet:1954]
subset: gard_rare {source="GARD:0002192"}
subset: ordo_disease {source="Orphanet:1954"}
synonym: "congenital exfoliative erythroderma resistant to treatment" RELATED [GARD:0002192]
synonym: "erythroderma lethal congenital" RELATED [GARD:0002192]
synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090]
synonym: "lethal congenital erythroderma" RELATED [GARD:0002192]
xref: GARD:0002192 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:1954/attributed", source="ORDO:1954/ntbt", source="Orphanet:1954"}
xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="ORDO:1954/e", source="MONDO:ontobio"}
xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="ORDO:1954/e"}
xref: Orphanet:1954 {source="MONDO:equivalentTo", source="OMIM:227090"}
xref: SCTID:722391005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019299 {source="Orphanet:1954"} ! unclassified genetic skin disorder
property_value: exactMatch http://identifiers.org/mesh/C535513
property_value: exactMatch http://identifiers.org/omim/227090
property_value: exactMatch http://identifiers.org/snomedct/722391005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856898
property_value: exactMatch Orphanet:1954
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital xsd:anyURI {source="GARD:0002192"}

[Term]
id: MONDO:0009199
name: ethanolaminosis
synonym: "ethanolamine kinase deficiency" RELATED [OMIM:227150]
synonym: "ethanolaminosis" EXACT [OMIM:227150]
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562651 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227150 {source="MONDO:equivalentTo"}
xref: SCTID:64235006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
xref: UMLS:C0268423 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227150"}
is_a: MONDO:0003847 {source="MESH:C562651/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562651
property_value: exactMatch http://identifiers.org/omim/227150
property_value: exactMatch http://identifiers.org/snomedct/64235006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268423

[Term]
id: MONDO:0009200
name: eyebrow duplication-syndactyly syndrome
def: "Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." [Orphanet:3172]
subset: ordo_malformation_syndrome {source="Orphanet:3172"}
synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED [GARD:0002216]
synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210]
xref: GARD:0002216 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227210 {source="MONDO:equivalentTo", source="Orphanet:3172", source="ORDO:3172/e"}
xref: Orphanet:3172 {source="OMIM:227210", source="MONDO:equivalentTo"}
xref: UMLS:C1856896 {source="OMIM:227210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3172"}
is_a: MONDO:0017434 {source="Orphanet:3172"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C536383
property_value: exactMatch http://identifiers.org/omim/227210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856896
property_value: exactMatch Orphanet:3172

[Term]
id: MONDO:0009201
name: facial abnormalities, kyphoscoliosis, and mental retardation
synonym: "facial abnormalities, kyphoscoliosis, and mental retardation" EXACT [OMIM:227250]
xref: MESH:C565580 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227250 {source="MONDO:equivalentTo"}
xref: UMLS:C1856893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227250"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565580
property_value: exactMatch http://identifiers.org/omim/227250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856893

[Term]
id: MONDO:0009202
name: Thakker-Donnai syndrome
subset: gard_rare {source="GARD:0005158"}
subset: ordo_malformation_syndrome {source="Orphanet:1780"}
synonym: "dysmorphic facial features and multiple structural abnormalities" RELATED [GARD:0005158]
synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158]
synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780]
synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255]
xref: GARD:0005158 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1780", source="ORDO:1780/attributed", source="ORDO:1780/ntbt"}
xref: OMIM:227255 {source="Orphanet:1780", source="MONDO:equivalentTo", source="ORDO:1780/e"}
xref: Orphanet:1780 {source="OMIM:227255", source="MONDO:equivalentTo"}
xref: UMLS:C2931219 {source="Orphanet:1780", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0043009 {source="Orphanet:1780"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856892
property_value: exactMatch http://identifiers.org/omim/227255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931219
property_value: exactMatch Orphanet:1780
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome xsd:anyURI {source="GARD:0005158"}

[Term]
id: MONDO:0009203
name: focal facial dermal dysplasia type III
def: "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." [Orphanet:1807]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:1807"}
synonym: "bitemporal forceps Marks syndrome" RELATED [OMIM:227260]
synonym: "bitemporal forceps marks syndrome" RELATED [GARD:0000121]
synonym: "facial ectodermal dysplasia" RELATED [OMIM:227260]
synonym: "FFDD type 2" RELATED [GARD:0000121]
synonym: "FFDD type III" EXACT [Orphanet:1807]
synonym: "FFDD3" EXACT [Orphanet:1807]
synonym: "FFDD3" RELATED [MONDO:Lexical, OMIM:227260]
synonym: "focal facial dermal dysplasia 3, Setleis type" EXACT [MONDO:Lexical, OMIM:227260, Orphanet:1807]
synonym: "focal facial dermal dysplasia 3, Setleis type; FFDD3" RELATED [OMIM:227260]
synonym: "focal facial dermal dysplasia type 2" RELATED [GARD:0000121]
synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260]
synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260]
synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807]
xref: GARD:0000121 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:1807", source="ORDO:1807/attributed", source="ORDO:1807/ntbt"}
xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="ORDO:1807/e"}
xref: Orphanet:1807 {source="GARD:0000121", source="MONDO:equivalentTo", source="OMIM:227260"}
xref: SCTID:403771007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.56"}
is_a: MONDO:0018363 {source="DC-OMIM:227260", source="OMIM:227260", source="Orphanet:1807"} ! focal facial dermal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536385
property_value: exactMatch http://identifiers.org/omim/227260
property_value: exactMatch http://identifiers.org/snomedct/403771007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1744559
property_value: exactMatch Orphanet:1807

[Term]
id: MONDO:0009204
name: lethal faciocardiomelic dysplasia
def: "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." [Orphanet:1972]
subset: gard_rare {source="GARD:0002229"}
subset: ordo_malformation_syndrome {source="Orphanet:1972"}
synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229]
synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270]
xref: GARD:0002229 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1972", source="ORDO:1972/attributed", source="ORDO:1972/ntbt"}
xref: MESH:C565578 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227270 {source="Orphanet:1972", source="ORDO:1972/e", source="MONDO:equivalentTo"}
xref: Orphanet:1972 {source="MONDO:equivalentTo", source="OMIM:227270"}
xref: SCTID:719400000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1856891 {source="Orphanet:1972", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227270"}
is_a: MONDO:0017432 {source="Orphanet:1972"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1972", source="Orphanet:1972/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1972"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C565578
property_value: exactMatch http://identifiers.org/omim/227270
property_value: exactMatch http://identifiers.org/snomedct/719400000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856891
property_value: exactMatch Orphanet:1972
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal xsd:anyURI {source="GARD:0002229"}

[Term]
id: MONDO:0009205
name: faciocardiorenal syndrome
def: "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." [Orphanet:1973]
subset: gard_rare {source="GARD:0002230"}
subset: ordo_malformation_syndrome {source="Orphanet:1973"}
synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230]
synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973]
synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280]
xref: GARD:0002230 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1973/attributed", source="ORDO:1973/ntbt", source="Orphanet:1973"}
xref: MESH:C536388 {source="ORDO:1973/e", source="MONDO:equivalentTo", source="Orphanet:1973", source="MONDO:ontobio"}
xref: OMIM:227280 {source="ORDO:1973/e", source="MONDO:equivalentTo", source="Orphanet:1973"}
xref: Orphanet:1973 {source="MONDO:equivalentTo", source="OMIM:227280"}
xref: SCTID:723333000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795936 {source="ORDO:1973/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1973", source="OMIM:227280"}
is_a: MONDO:0015159 {source="Orphanet:1973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019721 {source="Orphanet:1973"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C536388
property_value: exactMatch http://identifiers.org/omim/227280
property_value: exactMatch http://identifiers.org/snomedct/723333000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795936
property_value: exactMatch Orphanet:1973
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome xsd:anyURI {source="GARD:0002230"}

[Term]
id: MONDO:0009206
name: factor V and factor VIII, combined deficiency of, type 1
def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern]
synonym: "F5F8D1" RELATED [MONDO:Lexical, OMIM:227300]
synonym: "factor 5 and Factor VIII, combined deficiency of, 1" EXACT [MONDORULE:1, OMIM:227300]
synonym: "factor V and factor VIII, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:227300]
synonym: "factor V and factor VIII, combined deficiency of, 1; F5F8D1" RELATED [OMIM:227300]
synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:227300]
synonym: "FMFD 1" RELATED [OMIM:227300]
synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300]
xref: OMIM:227300 {source="MONDO:equivalentTo"}
xref: SCTID:84048006 {source="MONDO:equivalentTo"}
is_a: MONDO:0018175 {source="DC-OMIM:227300", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII
property_value: exactMatch http://identifiers.org/omim/227300
property_value: exactMatch http://identifiers.org/snomedct/84048006

[Term]
id: MONDO:0009207
name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor
synonym: "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor" RELATED [OMIM:227310]
synonym: "factor v and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" EXACT [OMIM:227310]
xref: OMIM:227310 {source="MONDO:equivalentTo"}
xref: UMLS:C1856882 {source="OMIM:227310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018175 {source="DC-OMIM:227310"} ! combined deficiency of factor V and factor VIII
property_value: exactMatch http://identifiers.org/omim/227310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856882

[Term]
id: MONDO:0009208
name: faciothoracogenital syndrome
synonym: "congenital anomalies, involving mainly the face, thorax, and genitalia" RELATED [GARD:0002228]
synonym: "facio thoraco genital syndrome" RELATED [GARD:0002228]
synonym: "faciothoracogenital syndrome" EXACT [OMIM:227320]
xref: GARD:0002228 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536387 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227320 {source="MONDO:equivalentTo"}
xref: UMLS:C2931184 {source="OMIM:227320", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856881
property_value: exactMatch http://identifiers.org/mesh/C536387
property_value: exactMatch http://identifiers.org/omim/227320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931184

[Term]
id: MONDO:0009209
name: autosomal recessive faciodigitogenital syndrome
def: "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." [Orphanet:1974]
subset: ordo_malformation_syndrome {source="Orphanet:1974"}
synonym: "Aarskog-like syndrome" EXACT [Orphanet:1974]
synonym: "Aarskog-like syndrome" RELATED [OMIM:227330]
synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974]
synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330]
synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330]
synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974]
xref: ICD10:Q87.8 {source="ORDO:1974/attributed", source="ORDO:1974/ntbt", source="Orphanet:1974"}
xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="ORDO:1974/e"}
xref: Orphanet:1974 {source="OMIM:227330", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="MONDO:cjm"} ! autosomal recessive disease
is_a: MONDO:0021005 {source="MONDO:cjm"} ! faciodigitogenital syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1974"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856871
property_value: exactMatch http://identifiers.org/omim/227330
property_value: exactMatch Orphanet:1974

[Term]
id: MONDO:0009210
name: congenital factor V deficiency
def: "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." [Orphanet:326]
subset: gard_rare {source="GARD:0002237"}
subset: ordo_disease {source="Orphanet:326"}
synonym: "deficiency, labile" EXACT [DOID:2216, MTHICD9_2006:286.3]
synonym: "factor 5 deficiency" RELATED [OMIM:227400]
synonym: "factor V deficiency" RELATED [OMIM:227400]
synonym: "hereditary Factor V deficiency" EXACT [NCIT:C98938]
synonym: "hereditary factor V deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary hypoproaccelerinaemia" EXACT [DOID:2216]
synonym: "labile Factor deficiency" RELATED [OMIM:227400]
synonym: "labile factor deficiency" EXACT [DOID:2216]
synonym: "Owren disease" EXACT [Orphanet:326]
synonym: "Owren Parahemophilia" RELATED [OMIM:227400]
synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326]
synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326]
xref: DOID:2216 {source="MONDO:equivalentTo"}
xref: GARD:0002237 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="Orphanet:326", source="DOID:2216", source="ORDO:326/attributed", source="ORDO:326/ntbt"}
xref: MedDRA:10048930 {source="ORDO:326/e", source="Orphanet:326"}
xref: MESH:D005166 {source="MONDO:equivalentTo", source="DOID:2216", source="MONDO:ontobio"}
xref: NCIT:C98938 {source="MONDO:kboom-pr-0.89/0.78/0.07", source="MONDO:equivalentTo", source="DOID:2216"}
xref: OMIM:227400 {source="ORDO:326/e", source="Orphanet:326", source="MONDO:equivalentTo", source="DOID:2216"}
xref: Orphanet:326 {source="OMIM:227400", source="MONDO:equivalentTo"}
xref: SCTID:88776002 {source="MONDO:equivalentTo", source="DOID:2216"}
xref: UMLS:C0015499 {source="ORDO:326/e", source="Orphanet:326", source="NCIT:C98938", source="NCBI:mim2gene_medline", source="OMIM:227400", source="MONDO:equivalentTo", source="DOID:2216"}
is_a: MONDO:0019039 {source="Orphanet:326"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0020586 ! factor V deficiency
is_a: MONDO:0021181 ! inherited blood coagulation disorder
intersection_of: MONDO:0020586 ! factor V deficiency
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/191284007
property_value: closeMatch http://identifiers.org/snomedct/365157004
property_value: closeMatch http://identifiers.org/snomedct/366160003
property_value: exactMatch DOID:2216
property_value: exactMatch http://identifiers.org/meddra/10048930
property_value: exactMatch http://identifiers.org/mesh/D005166
property_value: exactMatch http://identifiers.org/omim/227400
property_value: exactMatch http://identifiers.org/snomedct/88776002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015499
property_value: exactMatch NCIT:C98938
property_value: exactMatch Orphanet:326
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency xsd:anyURI {source="GARD:0002237"}

[Term]
id: MONDO:0009211
name: congenital factor VII deficiency
def: "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." [Orphanet:327]
subset: ordo_disease {source="Orphanet:327"}
synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327]
synonym: "deficiency, stable" EXACT EXCLUDE [DOID:2215]
synonym: "F7 deficiency" RELATED [OMIM:227500]
synonym: "factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500]
synonym: "factor VII deficiency" RELATED [OMIM:227500]
synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327]
xref: DOID:2215 {source="MONDO:equivalentTo"}
xref: GARD:0002238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D68.2 {source="Orphanet:327", source="DOID:2215", source="ORDO:327/attributed", source="ORDO:327/ntbt"}
xref: MedDRA:10016079 {source="ORDO:327/e", source="Orphanet:327"}
xref: NCIT:C131631 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.21"}
xref: OMIM:227500 {source="ORDO:327/e", source="Orphanet:327", source="MONDO:equivalentTo"}
xref: Orphanet:327 {source="OMIM:227500", source="MONDO:equivalentTo"}
xref: UMLS:C1394919 {source="MONDO:equivalentTo"}
is_a: MONDO:0002244 {source="MONDO:cjm"} ! factor VII deficiency
is_a: MONDO:0015722 {source="Orphanet:327"} ! congenital vitamin K-dependent coagulation factors deficiency
property_value: closeMatch http://identifiers.org/snomedct/154820003
property_value: exactMatch DOID:2215
property_value: exactMatch http://identifiers.org/meddra/10016079
property_value: exactMatch http://identifiers.org/omim/227500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1394919
property_value: exactMatch NCIT:C131631
property_value: exactMatch Orphanet:327

[Term]
id: MONDO:0009212
name: congenital factor X deficiency
def: "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." [Orphanet:328]
subset: ordo_disease {source="Orphanet:328"}
synonym: "congenital Stuart factor deficiency" EXACT [Orphanet:328]
synonym: "disease, Stuart-Prower" EXACT [DOID:2222, MTHICD9_2006:286.3]
synonym: "F10 deficiency" RELATED [OMIM:227600]
synonym: "factor 10 deficiency" RELATED [OMIM:227600]
synonym: "factor X deficiency" RELATED [OMIM:227600]
synonym: "factor X deficiency, congenital" RELATED [GARD:0006404]
synonym: "hereditary Factor X deficiency" EXACT [NCIT:C98940]
synonym: "Stuart factor deficiency, congenital" RELATED [GARD:0006404]
synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600]
synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328]
xref: DOID:2222 {source="MONDO:equivalentTo"}
xref: GARD:0006404 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D68.2 {source="Orphanet:328", source="ORDO:328/attributed", source="ORDO:328/ntbt"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98940 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.67"}
xref: OMIM:227600 {source="ORDO:328/e", source="Orphanet:328", source="MONDO:equivalentTo"}
xref: Orphanet:328 {source="MONDO:equivalentTo", source="OMIM:227600"}
xref: SCTID:76642003 {source="DOID:2222", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
is_a: MONDO:0002247 {source="MONDO:cjm", source="NCIT:C98940"} ! factor X deficiency
is_a: MONDO:0015722 {source="Orphanet:328"} ! congenital vitamin K-dependent coagulation factors deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015519
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414497
property_value: exactMatch DOID:2222
property_value: exactMatch http://identifiers.org/omim/227600
property_value: exactMatch http://identifiers.org/snomedct/76642003
property_value: exactMatch NCIT:C98940
property_value: exactMatch Orphanet:328

[Term]
id: MONDO:0009213
name: Fanconi anemia complementation group C
def: "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." [NCIT:C125704]
synonym: "FA3" EXACT [DOID:0111087]
synonym: "FACC" EXACT [DOID:0111087]
synonym: "facc" RELATED [OMIM:227645]
synonym: "FANCC" EXACT [DOID:0111087, MONDO:Lexical, OMIM:227645]
synonym: "Fanconi anemia complementation group type C" EXACT [DOID:0111087, MONDORULE:1]
synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical, OMIM:227645]
synonym: "Fanconi anemia, complementation group C; FANCC" RELATED [OMIM:227645]
synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1, OMIM:227645]
synonym: "Fanconi pancytopenia type 3" EXACT [DOID:0111087]
synonym: "Fanconi pancytopenia, type 3" RELATED [OMIM:227645]
xref: DOID:0111087 {source="MONDO:equivalentTo"}
xref: NCIT:C125704 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:227645 {source="MONDO:equivalentTo", source="DOID:0111087"}
xref: UMLS:C3468041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227645", source="NCIT:C125704"}
is_a: MONDO:0019391 {source="DC-OMIM:227645", source="DOID:0111087", source="NCIT:C125704", source="OMIM:227645"} ! Fanconi anemia
property_value: exactMatch DOID:0111087
property_value: exactMatch http://identifiers.org/omim/227645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3468041
property_value: exactMatch NCIT:C125704

[Term]
id: MONDO:0009214
name: Fanconi anemia complementation group D2
def: "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." [NCIT:C125706]
synonym: "FA4" EXACT [DOID:0111083]
synonym: "FAD2" EXACT [DOID:0111083]
synonym: "Fad2" RELATED [OMIM:227646]
synonym: "FANCD2" EXACT [DOID:0111083, MONDO:Lexical, OMIM:227646]
synonym: "Fanconi Anemia, complementation group D" RELATED [OMIM:227646]
synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical, OMIM:227646]
synonym: "Fanconi anemia, complementation group D2; FANCD2" RELATED [OMIM:227646]
synonym: "Fanconi pancytopenia type 4" EXACT [DOID:0111083]
synonym: "Fanconi pancytopenia, type 4" RELATED [OMIM:227646]
xref: DOID:0111083 {source="MONDO:equivalentTo"}
xref: NCIT:C125706 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:227646 {source="DOID:0111083", source="MONDO:equivalentTo"}
xref: UMLS:C3160738 {source="NCIT:C125706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227646"}
is_a: MONDO:0019391 {source="DC-OMIM:227646", source="DOID:0111083", source="NCIT:C125706", source="OMIM:227646"} ! Fanconi anemia
property_value: exactMatch DOID:0111083
property_value: exactMatch http://identifiers.org/omim/227646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160738
property_value: exactMatch NCIT:C125706

[Term]
id: MONDO:0009215
name: Fanconi anemia complementation group A
def: "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." [NCIT:C125702]
synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650]
synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650]
synonym: "FANCA" EXACT [DOID:0111095, MONDO:Lexical, OMIM:227650]
synonym: "FANCA Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi Anemia" RELATED [OMIM:227650]
synonym: "Fanconi anemia caused by mutation in FANCA" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type A" EXACT [DOID:0111095, MONDORULE:1]
synonym: "Fanconi anemia, complementation group A" RELATED [MONDO:Lexical, OMIM:227650]
synonym: "Fanconi anemia, complementation group A; FANCA" RELATED [OMIM:227650]
synonym: "Fanconi Anemia, complementation group type a" EXACT [MONDORULE:1, OMIM:227650]
synonym: "Fanconi Anemia, Estren-Dameshek variant" RELATED [OMIM:227650]
xref: DOID:0111095 {source="MONDO:equivalentTo"}
xref: EFO:0009044 {source="MONDO:equivalentTo"}
xref: GTR:AN1051558 {source="UMLS:CN653908"}
xref: NCIT:C125702 {source="MONDO:equivalentTo"}
xref: OMIM:227650 {source="MONDO:equivalentTo", source="DOID:0111095"}
xref: UMLS:CN653908 {source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:227650", source="DOID:0111095", source="EFO:0009044", source="MONDO:Redundant", source="NCIT:C125702", source="OMIM:227650"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856796
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856797
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3469521
property_value: exactMatch DOID:0111095
property_value: exactMatch http://identifiers.org/omim/227650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN653908
property_value: exactMatch NCIT:C125702

[Term]
id: MONDO:0009216
name: glycogen storage disease due to GLUT2 deficiency
def: "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." [Orphanet:2088]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2088"}
synonym: "Bickel-Fanconi glycogenosis" EXACT [Orphanet:2088]
synonym: "Fanconi Bickel syndrome" EXACT [GARD:0002268]
synonym: "Fanconi syndrome with intestinal malabsorption and galactose intolerance" EXACT [GARD:0002268, OMIM:227810]
synonym: "Fanconi-Bickel disease" EXACT [Orphanet:2088]
synonym: "Fanconi-Bickel syndrome" EXACT [MONDO:Lexical, OMIM:227810]
synonym: "Fanconi-Bickel syndrome; FBS" EXACT [OMIM:227810]
synonym: "FBS" EXACT [MONDO:Lexical, OMIM:227810]
synonym: "GLUT2 deficiency" RELATED [GARD:0002268]
synonym: "glycogen storage disease 11" RELATED AMBIGUOUS [OMIM:227810]
synonym: "glycogen storage disease due to GLUT2 deficiency" EXACT [GARD:0002268]
synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "glycogen storage disease type XI" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "glycogen storage disease XI" RELATED [GARD:0002268]
synonym: "glycogenosis due to GLUT2 deficiency" EXACT [Orphanet:2088]
synonym: "glycogenosis Fanconi EXACT" RELATED [GARD:0002268]
synonym: "glycogenosis, Fanconi type" RELATED [OMIM:227810]
synonym: "GSD due to GLUT2 deficiency" EXACT [Orphanet:2088]
synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "GSD type XI" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "hepatic glycogenosis with amino aciduria and glucosuria" RELATED [GARD:0002268, OMIM:227810]
synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [OMIM:227810]
synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268, OMIM:227810]
synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268]
synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810]
xref: GARD:0002268 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:2088", source="ORDO:2088/attributed", source="ORDO:2088/ntbt"}
xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="ORDO:2088/e"}
xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"}
xref: SCTID:61598006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.44"}
is_a: MONDO:0002412 {source="Orphanet:2088", source="linkedlifedata"} ! glycogen storage disease
is_a: MONDO:0019226 {source="Orphanet:2088"} ! glucose transport disorder
is_a: MONDO:0019743 {source="Orphanet:2088"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495427
property_value: exactMatch http://identifiers.org/omim/227810
property_value: exactMatch http://identifiers.org/snomedct/61598006
property_value: exactMatch Orphanet:2088
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome xsd:anyURI {source="GARD:0002268"}

[Term]
id: MONDO:0009217
name: Fanconi-like syndrome
def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." [DOID:0090066]
synonym: "Fanconi-like syndrome" EXACT [OMIM:227850]
xref: DOID:0090066 {source="MONDO:equivalentTo"}
xref: MESH:C536855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:227850 {source="DOID:0090066", source="MONDO:equivalentTo"}
xref: SCTID:236469003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0151638 {source="OMIM:227850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0090066", source="MONDOLEX:0009217"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch DOID:0090066
property_value: exactMatch http://identifiers.org/mesh/C536855
property_value: exactMatch http://identifiers.org/omim/227850
property_value: exactMatch http://identifiers.org/snomedct/236469003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151638

[Term]
id: MONDO:0009218
name: Farber lipogranulomatosis
def: "Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." [Orphanet:333]
subset: ordo_disease {source="Orphanet:333"}
synonym: "AC deficiency" RELATED [OMIM:228000]
synonym: "acid ceramidase deficiency" EXACT [DOID:0050464, OMIM:228000, Orphanet:333]
synonym: "ceramidase deficiency" RELATED [OMIM:228000]
synonym: "Farber disease" EXACT [DOID:0050464, OMIM:228000]
synonym: "Farber lipogranulomatosis" EXACT [MONDO:Lexical, OMIM:228000, Orphanet:333]
synonym: "Farber lipogranulomatosis; FRBRL" RELATED [OMIM:228000]
synonym: "Farber's disease" RELATED [GARD:0006426]
synonym: "FRBRL" RELATED [MONDO:Lexical, OMIM:228000]
synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464]
synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000]
xref: DOID:0050464 {source="MONDO:equivalentTo"}
xref: GARD:0006426 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:333/inclusion", source="ORDO:333/ntbt", source="Orphanet:333"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D055577 {source="DOID:0050464", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:333/e", source="Orphanet:333"}
xref: NCIT:C84710 {source="DOID:0050464", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:228000 {source="DOID:0050464", source="MONDO:equivalentTo", source="ORDO:333/e", source="Orphanet:333"}
xref: Orphanet:333 {source="MONDO:equivalentTo", source="OMIM:228000"}
xref: SCTID:79935000 {source="DOID:0050464", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.49"}
xref: UMLS:C0268255 {source="NCIT:C84710", source="DOID:0050464", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:333/e", source="Orphanet:333"}
xref: UMLS:CN204335 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018299 {source="Orphanet:333"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019058 {source="Orphanet:333"} ! neurometabolic disease
is_a: MONDO:0019296 {source="Orphanet:333"} ! subcutaneous tissue disease
is_a: MONDO:0020244 {source="Orphanet:333"} ! unclassified primitive or secondary maculopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412573
property_value: exactMatch DOID:0050464
property_value: exactMatch http://identifiers.org/mesh/C537075
property_value: exactMatch http://identifiers.org/mesh/D055577
property_value: exactMatch http://identifiers.org/omim/228000
property_value: exactMatch http://identifiers.org/snomedct/79935000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936785
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204335
property_value: exactMatch NCIT:C84710
property_value: exactMatch Orphanet:333

[Term]
id: MONDO:0009219
name: fascial dystrophy, congenital
synonym: "fascial dystrophy, congenital" EXACT [OMIM:228020]
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563219 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228020 {source="MONDO:equivalentTo"}
xref: SCTID:399948007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0008492 {source="ORDO:2833/btnt"} ! stiff skin syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1302740
property_value: exactMatch http://identifiers.org/mesh/C563219
property_value: exactMatch http://identifiers.org/omim/228020
property_value: exactMatch http://identifiers.org/snomedct/399948007

[Term]
id: MONDO:0009220
name: visceral steatosis, congenital
synonym: "fatal neonatal hepatic steatosis" RELATED [GARD:0008514]
synonym: "fatty liver disease, congenital" RELATED [OMIM:228100]
synonym: "fatty metamorphosis of viscera" RELATED [OMIM:228100]
synonym: "steatosis of liver" RELATED [OMIM:228100]
synonym: "visceral steatosis" RELATED [GARD:0008514]
synonym: "visceral steatosis, congenital" EXACT [OMIM:228100]
synonym: "White liver disease" RELATED [OMIM:228100]
xref: COHD:4059290 {source="MONDO:equivalentTo"}
xref: GARD:0008514 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:228100 {source="MONDO:equivalentTo"}
xref: SCTID:270881008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.46/0.33"}
is_a: MONDO:0004790 {source="MONDOLEX:0009220"} ! fatty liver disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0341447
property_value: exactMatch http://identifiers.org/omim/228100
property_value: exactMatch http://identifiers.org/snomedct/270881008

[Term]
id: MONDO:0009221
name: femur-fibula-ulna complex
def: "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." [Orphanet:2019]
subset: ordo_malformation_syndrome {source="Orphanet:2019"}
synonym: "femur fibula ulna syndrome" RELATED [GARD:0002286]
synonym: "femur-fibula-ulna dysostosis" EXACT [Orphanet:2019]
synonym: "femur-fibula-ulna syndrome" EXACT [OMIM:228200, Orphanet:2019]
synonym: "FFU complex" EXACT [Orphanet:2019]
synonym: "Ffu syndrome" RELATED [OMIM:228200]
synonym: "PFFD" EXACT [Orphanet:2019]
xref: GARD:0002286 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="ORDO:2019/attributed", source="ORDO:2019/ntbt", source="Orphanet:2019"}
xref: MedDRA:10068448 {source="ORDO:2019/e", source="Orphanet:2019"}
xref: MESH:C537918 {source="MONDO:equivalentTo", source="ORDO:2019/e", source="Orphanet:2019", source="MONDO:ontobio"}
xref: OMIM:228200 {source="MONDO:equivalentTo", source="ORDO:2019/e", source="Orphanet:2019"}
xref: Orphanet:2019 {source="OMIM:228200", source="MONDO:equivalentTo"}
xref: UMLS:C1856790 {source="OMIM:228200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017433 {source="Orphanet:2019"} ! dysostosis with combined reduction defects of upper and lower limbs
property_value: exactMatch http://identifiers.org/meddra/10068448
property_value: exactMatch http://identifiers.org/mesh/C537918
property_value: exactMatch http://identifiers.org/omim/228200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363814
property_value: exactMatch Orphanet:2019

[Term]
id: MONDO:0009222
name: Gollop-Wolfgang complex
def: "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." [Orphanet:1986]
subset: ordo_malformation_syndrome {source="Orphanet:1986"}
synonym: "bifid femur-monodactylous ectrodactyly syndrome" EXACT [Orphanet:1986]
synonym: "femur bifid with monodactylous ectrodactyly" RELATED [GARD:0002285]
synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMIM:228250]
synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250]
synonym: "GWC" RELATED [GARD:0002285]
xref: GARD:0002285 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="ORDO:1986/attributed", source="ORDO:1986/ntbt", source="Orphanet:1986"}
xref: MESH:C537917 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228250 {source="MONDO:equivalentTo", source="ORDO:1986/e", source="Orphanet:1986"}
xref: Orphanet:1986 {source="MONDO:equivalentTo", source="OMIM:228250"}
xref: SCTID:716006003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C1856789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1986/e", source="Orphanet:1986", source="OMIM:228250"}
is_a: MONDO:0017432 {source="Orphanet:1986"} ! syndrome with limb reduction defects
is_a: MONDO:0017433 {source="Orphanet:1986"} ! dysostosis with combined reduction defects of upper and lower limbs
is_a: MONDO:0017434 {source="Orphanet:1986"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C537917
property_value: exactMatch http://identifiers.org/omim/228250
property_value: exactMatch http://identifiers.org/snomedct/716006003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856789
property_value: exactMatch Orphanet:1986

[Term]
id: MONDO:0009223
name: hypogonadotropic hypogonadism 23 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:325448"}
synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY DSD due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)" RELATED [GARD:0010127]
synonym: "fertile eunuch syndrome" EXACT [DOID:0090091, OMIM:228300]
synonym: "HH23" RELATED [MONDO:Lexical, OMIM:228300]
synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical, OMIM:228300]
synonym: "hypogonadotropic hypogonadism 23 without anosmia; HH23" RELATED [OMIM:228300]
synonym: "hypogonadotropic hypogonadism caused by mutation in LHB" EXACT [MONDO:design_pattern]
synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091]
synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300]
xref: DOID:0090091 {source="MONDO:equivalentTo"}
xref: GARD:0010127 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q56.1 {source="Orphanet:325448", source="ORDO:325448/attributed", source="ORDO:325448/ntbt", source="DOID:0090091"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537919 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228300 {source="ORDO:325448/e", source="Orphanet:325448", source="MONDO:equivalentTo", source="DOID:0090091"}
xref: Orphanet:325448 {source="OMIM:228300", source="MONDO:equivalentTo", source="DOID:0090091"}
xref: SCTID:8829008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.68"}
xref: UMLS:C0271582 {source="MEDGEN:kboom-pr97-c99", source="OMIM:228300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018555 {source="DOID:0090091", source="MONDO:Redundant", source="MONDOLEX:0009223", source="OMIM:228300"} ! hypogonadotropic hypogonadism
is_a: MONDO:0019155 {source="Orphanet:325448"} ! Leydig cell hypoplasia
property_value: exactMatch DOID:0090091
property_value: exactMatch http://identifiers.org/mesh/C537919
property_value: exactMatch http://identifiers.org/omim/228300
property_value: exactMatch http://identifiers.org/snomedct/8829008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271582
property_value: exactMatch Orphanet:325448

[Term]
id: MONDO:0009224
name: fetal iodine syndrome
def: "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." [Orphanet:1910]
subset: gard_rare {source="GARD:0002304"}
subset: ordo_malformation_syndrome {source="Orphanet:1910"}
synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355]
synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355]
synonym: "fetal iodine deficiency disorder; FIDD" RELATED [OMIM:228355]
synonym: "FIDD" RELATED [MONDO:Lexical, OMIM:228355]
xref: GARD:0002304 {source="MONDO:equivalentTo"}
xref: ICD10:P72.2 {source="ORDO:1910/ntbt", source="Orphanet:1910"}
xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="ORDO:1910/e"}
xref: Orphanet:1910 {source="OMIM:228355", source="MONDO:equivalentTo"}
xref: SCTID:718228001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.21"}
xref: UMLS:C4273860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:1910"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016555 {source="Orphanet:1910"} ! transient congenital hypothyroidism due to maternal factor
is_a: MONDO:0016677 {source="Orphanet:1910"} ! toxic or drug-related embryofetopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342200
property_value: exactMatch http://identifiers.org/omim/228355
property_value: exactMatch http://identifiers.org/snomedct/718228001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273860
property_value: exactMatch Orphanet:1910
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome xsd:anyURI {source="GARD:0002304"}

[Term]
id: MONDO:0009225
name: fever, familial lifelong persistent
synonym: "fever, familial lifelong persistent" EXACT [OMIM:228400]
xref: MESH:C565569 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228400 {source="MONDO:equivalentTo"}
xref: UMLS:C1856788 {source="OMIM:228400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565569
property_value: exactMatch http://identifiers.org/omim/228400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856788

[Term]
id: MONDO:0009226
name: fibrochondrogenesis 1
def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL11A1 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBCG1" RELATED [MONDO:Lexical, OMIM:228520]
synonym: "fibrochondrogenesis 1" EXACT [MONDO:Lexical, OMIM:228520]
synonym: "fibrochondrogenesis 1; FBCG1" RELATED [OMIM:228520]
synonym: "fibrochondrogenesis caused by mutation in COL11A1" EXACT [MONDO:design_pattern]
synonym: "fibrochondrogenesis type 1" EXACT [MONDORULE:1, OMIM:228520]
xref: OMIM:228520 {source="MONDO:equivalentTo"}
xref: UMLS:C3278138 {source="OMIM:228520", source="MONDO:equivalentTo"}
is_a: MONDO:0016068 {source="DC-OMIM:228520", source="MONDO:Redundant", source="OMIM:228520"} ! fibrochondrogenesis
property_value: exactMatch http://identifiers.org/omim/228520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278138

[Term]
id: MONDO:0009227
name: myofibromatosis, infantile, 1
def: "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "fibromatosis, congenital generalized" RELATED [OMIM:228550]
synonym: "IMF1" RELATED [MONDO:Lexical, OMIM:228550]
synonym: "myofibromatosis caused by mutation in PDGFRB" EXACT [MONDO:design_pattern]
synonym: "myofibromatosis, infantile, 1" EXACT [MONDO:Lexical, OMIM:228550]
synonym: "myofibromatosis, infantile, 1; IMF1" RELATED [OMIM:228550]
synonym: "myofibromatosis, infantile, type 1" EXACT [MONDORULE:1, OMIM:228550]
synonym: "myofibromatosis, juvenile" RELATED [OMIM:228550]
synonym: "PDGFRB myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562978 {source="MONDO:equivalentTo"}
xref: OMIM:228550 {source="MONDO:equivalentTo"}
xref: SCTID:254146000 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0016824 {source="DC-OMIM:228550", source="MESH:C562978", source="MONDO:Redundant", source="OMIM:228550"} ! myofibromatosis
property_value: exactMatch http://identifiers.org/mesh/C562978
property_value: exactMatch http://identifiers.org/omim/228550
property_value: exactMatch http://identifiers.org/snomedct/254146000

[Term]
id: MONDO:0009228
name: gingival fibromatosis-facial dysmorphism syndrome
def: "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." [Orphanet:2025]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2025"}
synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560]
synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528]
synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528]
xref: GARD:0010528 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2025", source="ORDO:2025/attributed", source="ORDO:2025/ntbt"}
xref: MESH:C565567 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228560 {source="Orphanet:2025", source="ORDO:2025/e", source="MONDO:equivalentTo", source="GARD:0010528"}
xref: Orphanet:2025 {source="MONDO:equivalentTo", source="OMIM:228560"}
xref: UMLS:C1856761 {source="Orphanet:2025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010528", source="OMIM:228560"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0009228"} ! syndromic disease
is_a: MONDO:0015336 {source="Orphanet:2025"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0043008 {source="Orphanet:2025"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565567
property_value: exactMatch http://identifiers.org/omim/228560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856761
property_value: exactMatch Orphanet:2025
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies xsd:anyURI {source="GARD:0010528"}

[Term]
id: MONDO:0009229
name: hyaline fibromatosis syndrome
subset: ordo_disease
synonym: "HFS" RELATED [MONDO:Lexical, OMIM:228600]
synonym: "hyaline fibromatosis syndrome" EXACT [MONDO:Lexical, OMIM:228600]
synonym: "hyaline fibromatosis syndrome; HFS" RELATED [OMIM:228600]
synonym: "hyalinosis, systemic" RELATED [OMIM:228600]
synonym: "infantile systemic hyalinosis (former subtype)" RELATED [GARD:0006807]
synonym: "inherited systemic hyalinosis" RELATED [GARD:0006807]
synonym: "juvenile hyaline fibromatosis (former subtype)" RELATED [GARD:0006807]
xref: GARD:0006807 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:228600 {source="MONDO:equivalentTo"}
xref: Orphanet:498474 {source="MONDO:equivalentTo"}
xref: UMLS:C2745948 {source="OMIM:228600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019707 {source="Orphanet:498474"} ! primary osteolysis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/228600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745948
property_value: exactMatch Orphanet:498474

[Term]
id: MONDO:0009230
name: fibrosclerosis, multifocal
synonym: "fibrosclerosis, multifocal" EXACT [OMIM:228800]
synonym: "mediastinal fibrosis, familial" RELATED [OMIM:228800]
synonym: "multifocal fibrosclerosis" RELATED [GARD:0005697]
synonym: "retroperitoneal fibrosis, familial" RELATED [OMIM:228800]
xref: GARD:0005697 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:M35.5 {source="MONDO:equivalentTo"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228800 {source="MONDO:equivalentTo"}
xref: SCTID:111210001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.48"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018848 {source="MESH:C537375", source="ORDO:49041/btnt"} ! IgG4-related retroperitoneal fibrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0494949
property_value: exactMatch http://identifiers.org/mesh/C537375
property_value: exactMatch http://identifiers.org/omim/228800
property_value: exactMatch http://identifiers.org/snomedct/111210001

[Term]
id: MONDO:0009231
name: fibular hypoplasia and complex brachydactyly
subset: gard_rare {source="GARD:0009879"}
subset: ordo_malformation_syndrome {source="Orphanet:2639"}
synonym: "Du Pan syndrome" EXACT [DOID:0050790, OMIM:228900, Orphanet:2639]
synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639]
synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900]
xref: DOID:0050790 {source="MONDO:equivalentTo"}
xref: GARD:0009879 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="ORDO:2639/attributed", source="ORDO:2639/ntbt", source="Orphanet:2639"}
xref: KEGG:H00467 {source="MONDO:equivalentTo", source="DOID:0050790"}
xref: MESH:C537931 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228900 {source="MONDO:equivalentTo", source="ORDO:2639/e", source="Orphanet:2639", source="DOID:0050790"}
xref: Orphanet:2639 {source="MONDO:equivalentTo", source="OMIM:228900"}
xref: SCTID:715474004 {source="MONDO:kboom-pr-1.00/0.75/6.60", source="MONDO:equivalentTo"}
xref: UMLS:C1856738 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:228900", source="ORDO:2639/e", source="Orphanet:2639"}
is_a: MONDO:0006025 {source="DOID:0050790", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0017432 {source="Orphanet:2639"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:2639", source="Orphanet:2639/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019696 {source="Orphanet:2639"} ! acromesomelic dysplasia
property_value: exactMatch DOID:0050790
property_value: exactMatch http://identifiers.org/mesh/C537931
property_value: exactMatch http://identifiers.org/omim/228900
property_value: exactMatch http://identifiers.org/snomedct/715474004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856738
property_value: exactMatch Orphanet:2639
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly xsd:anyURI {source="GARD:0009879"}

[Term]
id: MONDO:0009232
name: Fuhrmann syndrome
def: "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." [Orphanet:2854]
subset: gard_rare {source="GARD:0002410"}
subset: ordo_malformation_syndrome {source="Orphanet:2854"}
synonym: "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies" RELATED [GARD:0002410]
synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [OMIM:228930]
synonym: "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" EXACT [Orphanet:2854]
synonym: "Fuhrmann syndrome" EXACT [OMIM:228930]
synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854]
xref: DOID:0090067 {source="MONDO:equivalentTo"}
xref: GARD:0002410 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="DOID:0090067", source="ORDO:2854/attributed", source="ORDO:2854/ntbt", source="Orphanet:2854"}
xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e", source="MONDO:ontobio"}
xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e"}
xref: Orphanet:2854 {source="DOID:0090067", source="OMIM:228930", source="MONDO:equivalentTo"}
xref: SCTID:721296004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1856728 {source="OMIM:228930", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e"}
is_a: MONDO:0015335 {source="Orphanet:2854"} ! orofacial clefting syndrome
is_a: MONDO:0017432 {source="Orphanet:2854"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:2854"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch DOID:0090067
property_value: exactMatch http://identifiers.org/mesh/C538189
property_value: exactMatch http://identifiers.org/omim/228930
property_value: exactMatch http://identifiers.org/snomedct/721296004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856728
property_value: exactMatch Orphanet:2854
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome xsd:anyURI {source="GARD:0002410"}

[Term]
id: MONDO:0009233
name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
def: "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." [Orphanet:2256]
subset: ordo_malformation_syndrome {source="Orphanet:2256"}
synonym: "Fibulo ulnar hypoplasia renal anomalies" RELATED [GARD:0000320]
synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [OMIM:228940]
synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320]
synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256]
xref: GARD:0000320 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2256", source="ORDO:2256/attributed", source="ORDO:2256/ntbt"}
xref: MESH:C537226 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228940 {source="Orphanet:2256", source="ORDO:2256/e", source="MONDO:equivalentTo"}
xref: Orphanet:2256 {source="OMIM:228940", source="MONDO:equivalentTo"}
xref: SCTID:716094008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:C1856727 {source="Orphanet:2256", source="ORDO:2256/e", source="NCBI:mim2gene_medline", source="OMIM:228940", source="MONDO:equivalentTo"}
is_a: MONDO:0019721 {source="Orphanet:2256"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="Orphanet:2256"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537226
property_value: exactMatch http://identifiers.org/omim/228940
property_value: exactMatch http://identifiers.org/snomedct/716094008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856727
property_value: exactMatch Orphanet:2256

[Term]
id: MONDO:0009234
name: congenital high-molecular-weight kininogen deficiency
def: "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." [NCIT:C98946]
subset: gard_rare
subset: ordo_disease {source="Orphanet:483"}
synonym: "Fitzgerald trait" RELATED [MESH:C537060, OMIM:228960]
synonym: "Fitzgerald trait kininogen deficiency, total, included" RELATED [MESH:C537060]
synonym: "Flaujeac factor deficiency" RELATED [GARD:0002684]
synonym: "Flaujeac trait" RELATED [OMIM:228960]
synonym: "Flaujeac trait, included" RELATED [MESH:C537060]
synonym: "high molecular weight kininogen deficiency" RELATED [MESH:C537060, OMIM:228960]
synonym: "high-molecular-weight kininogen deficiency, congenital" RELATED [GARD:0002684]
synonym: "HMWK" RELATED [GARD:0002684]
synonym: "HMWK deficiency" RELATED [MESH:C537060]
synonym: "Hmwk deficiency" RELATED [OMIM:228960]
synonym: "kininogen deficiency, high molecular weight" RELATED [MESH:C537060, OMIM:228960]
synonym: "kininogen deficiency, high molecular weight and Low molecular weight" RELATED [OMIM:228960]
synonym: "kininogen deficiency, high molecular weight and LOW molecular weight, included" RELATED [MESH:C537060]
synonym: "kininogen deficiency, total" RELATED [MESH:C537060, OMIM:228960]
synonym: "Williams trait" RELATED [OMIM:228960]
synonym: "Williams trait, included" RELATED [MESH:C537060]
xref: GARD:0002684 {source="MONDO:equivalentTo"}
xref: ICD10:D68.8 {source="ORDO:483/attributed", source="ORDO:483/ntbt", source="Orphanet:483"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537060 {source="MONDO:equivalentTo"}
xref: NCIT:C98946 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: OMIM:228960 {source="GARD:0002684", source="MONDO:equivalentTo", source="ORDO:483/e", source="Orphanet:483"}
xref: Orphanet:483 {source="GARD:0002684", source="OMIM:228960", source="MONDO:equivalentTo"}
xref: SCTID:27312002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
is_a: MONDO:0019039 {source="Orphanet:483"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272340
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856719
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673570
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673571
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673572
property_value: exactMatch http://identifiers.org/mesh/C537060
property_value: exactMatch http://identifiers.org/omim/228960
property_value: exactMatch http://identifiers.org/snomedct/27312002
property_value: exactMatch NCIT:C98946
property_value: exactMatch Orphanet:483
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency xsd:anyURI {source="GARD:0002684"}

[Term]
id: MONDO:0009235
name: familial benign flecked retina
def: "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." [Orphanet:363989]
subset: ordo_disease {source="Orphanet:363989"}
synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980]
synonym: "FLECK retina, familial benign; FRFB" RELATED [OMIM:228980]
synonym: "FRFB" RELATED [MONDO:Lexical, OMIM:228980]
xref: ICD10:H35.5 {source="ORDO:363989/attributed", source="ORDO:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"}
xref: MESH:C565564 {source="MONDO:equivalentTo"}
xref: OMIM:228980 {source="MONDO:equivalentTo", source="ORDO:363989/e", source="Orphanet:363989"}
xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"}
xref: UMLS:C1856718 {source="OMIM:228980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363989"}
is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C565564
property_value: exactMatch http://identifiers.org/omim/228980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856718
property_value: exactMatch Orphanet:363989

[Term]
id: MONDO:0009236
name: Kandori fleck retina
def: "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." [Orphanet:99179]
subset: ordo_malformation_syndrome {source="Orphanet:99179"}
synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990]
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:99179/attributed", source="ORDO:99179/ntbt", source="Orphanet:99179"}
xref: MESH:C562701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:228990 {source="MONDO:equivalentTo", source="ORDO:99179/e", source="Orphanet:99179"}
xref: Orphanet:99179 {source="MONDO:equivalentTo", source="OMIM:228990"}
xref: SCTID:765191009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:228990", source="Orphanet:99179"}
is_a: MONDO:0016420 {source="Orphanet:99179"} ! familial flecked retinopathy
property_value: exactMatch http://identifiers.org/mesh/C562701
property_value: exactMatch http://identifiers.org/omim/228990
property_value: exactMatch http://identifiers.org/snomedct/765191009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271257
property_value: exactMatch Orphanet:99179

[Term]
id: MONDO:0009237
name: focal epithelial hyperplasia
def: "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." [NCIT:P378]
synonym: "FEH, oral" RELATED [OMIM:229045]
synonym: "focal epithelial hyperplasia, oral" RELATED [OMIM:229045]
synonym: "heck disease" EXACT [DOID:5362, OMIM:229045]
synonym: "heck's disease" EXACT [DOID:5362]
synonym: "multifocal epithelial hyperplasia" EXACT [DOID:5362]
xref: DOID:5362 {source="MONDO:equivalentTo", source="EFO:0007275"}
xref: EFO:0007275 {source="MONDO:equivalentTo"}
xref: ICD9:528.79 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D017573 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5362", source="EFO:0007275"}
xref: NCIT:C97083 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:5362"}
xref: OMIM:229045 {source="MONDO:equivalentTo", source="DOID:5362"}
xref: SCTID:6121001 {source="MONDO:kboom-pr-1.00/0.78/6.53", source="MONDO:equivalentTo", source="DOID:5362"}
xref: UMLS:C0206067 {source="NCIT:C97083", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:5362", source="OMIM:229045"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005043 {source="NCIT:C97083"} ! hyperplasia
is_a: MONDO:0005108 {source="DOID:5362", source="EFO:0007275", source="MONDO:Redundant"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/36949004
property_value: exactMatch DOID:5362
property_value: exactMatch http://identifiers.org/mesh/D017573
property_value: exactMatch http://identifiers.org/omim/229045
property_value: exactMatch http://identifiers.org/snomedct/6121001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206067
property_value: exactMatch NCIT:C97083

[Term]
id: MONDO:0009238
name: hereditary folate malabsorption
def: "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." [Orphanet:90045]
subset: gard_rare {source="GARD:0012983"}
subset: ordo_disease {source="Orphanet:90045"}
synonym: "congenital defect of folate absorption" RELATED [GARD:0012983]
synonym: "congenital folate malabsorption" EXACT [Orphanet:90045]
synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050]
synonym: "folic acid transport defect" RELATED [GARD:0012983]
xref: GARD:0012983 {source="MONDO:equivalentTo"}
xref: ICD10:D52.8 {source="Orphanet:90045", source="ORDO:90045/attributed", source="ORDO:90045/ntbt"}
xref: MESH:C562799 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229050 {source="ORDO:90045/e", source="MONDO:equivalentTo", source="Orphanet:90045"}
xref: Orphanet:90045 {source="MONDO:equivalentTo", source="OMIM:229050"}
xref: SCTID:62578003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90045", source="OMIM:229050"}
is_a: MONDO:0015179 {source="Orphanet:90045"} ! intestinal disease due to vitamin absorption anomaly
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017313 {source="Orphanet:90045"} ! disorder of folate metabolism and transport
is_a: MONDO:0018035 {source="Orphanet:90045"} ! syndrome with combined immunodeficiency
is_a: MONDO:0020111 {source="Orphanet:90045"} ! constitutional megaloblastic anemia due to folate metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C562799
property_value: exactMatch http://identifiers.org/omim/229050
property_value: exactMatch http://identifiers.org/snomedct/62578003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342705
property_value: exactMatch Orphanet:90045
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption xsd:anyURI {source="GARD:0012983"}

[Term]
id: MONDO:0009239
name: hypogonadotropic hypogonadism 24 without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:52901"}
synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070]
synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH24" RELATED [MONDO:Lexical, OMIM:229070]
synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT [MONDO:Lexical, OMIM:229070]
synonym: "hypogonadotropic hypogonadism 24 without anosmia; HH24" RELATED [OMIM:229070]
synonym: "hypogonadotropic hypogonadism caused by mutation in FSHB" EXACT [MONDO:design_pattern]
synonym: "isolated follicle stimulating hormone deficiency" RELATED [Orphanet:52901]
synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD:0010128]
synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088]
synonym: "isolated FSH deficiency" EXACT [Orphanet:52901]
xref: DOID:0090088 {source="MONDO:equivalentTo"}
xref: GARD:0010128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E23.6 {source="ORDO:52901/attributed", source="ORDO:52901/ntbt", source="DOID:0090088", source="Orphanet:52901"}
xref: MESH:C537070 {source="MONDO:equivalentTo", source="ORDO:52901/e", source="Orphanet:52901", source="MONDO:ontobio"}
xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="ORDO:52901/e", source="Orphanet:52901"}
xref: Orphanet:52901 {source="DOID:0090088", source="MONDO:equivalentTo", source="OMIM:229070"}
xref: SCTID:758664007 {source="MONDO:equivalentTo"}
xref: UMLS:C1856716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:229070", source="ORDO:52901/e", source="Orphanet:52901", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018555 {source="DOID:0090088", source="MONDO:Redundant", source="MONDOLEX:0009239", source="OMIM:229070"} ! hypogonadotropic hypogonadism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342386
property_value: exactMatch DOID:0090088
property_value: exactMatch http://identifiers.org/mesh/C537070
property_value: exactMatch http://identifiers.org/omim/229070
property_value: exactMatch http://identifiers.org/snomedct/758664007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856716
property_value: exactMatch Orphanet:52901

[Term]
id: MONDO:0009240
name: formiminoglutamic aciduria
def: "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." [Orphanet:51208]
subset: ordo_disease {source="Orphanet:51208"}
synonym: "Arakawa syndrome 1" RELATED [GARD:0009279]
synonym: "Figlu-Uria" RELATED [OMIM:229100]
synonym: "formiminoglutamic acidemia" RELATED [GARD:0009279]
synonym: "formiminoglutamic aciduria" EXACT [OMIM:229100]
synonym: "Formiminoglutamicaciduria (FIGLU-Uria)" RELATED [GARD:0009279]
synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [Orphanet:51208]
synonym: "formiminotransferase deficiency" RELATED [OMIM:229100]
synonym: "formiminotransferase deficiency syndrome" RELATED [GARD:0009279]
synonym: "FTCD deficiency" EXACT [Orphanet:51208]
synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208]
xref: GARD:0009279 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.8 {source="ORDO:51208/attributed", source="ORDO:51208/ntbt", source="Orphanet:51208"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537425 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229100 {source="MONDO:equivalentTo", source="ORDO:51208/e", source="Orphanet:51208"}
xref: Orphanet:51208 {source="MONDO:equivalentTo", source="OMIM:229100"}
xref: SCTID:59761008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:51208", source="OMIM:229100"}
is_a: MONDO:0017313 {source="Orphanet:51208"} ! disorder of folate metabolism and transport
is_a: MONDO:0020111 {source="Orphanet:51208"} ! constitutional megaloblastic anemia due to folate metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C537425
property_value: exactMatch http://identifiers.org/omim/229100
property_value: exactMatch http://identifiers.org/snomedct/59761008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268609
property_value: exactMatch Orphanet:51208

[Term]
id: MONDO:0009241
name: fountain syndrome
def: "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." [Orphanet:3219]
subset: gard_rare {source="GARD:0000064"}
subset: ordo_malformation_syndrome {source="Orphanet:3219"}
synonym: "deafness, skeletal dysplasia, lip granuloma" RELATED [GARD:0000064]
synonym: "deafness-skeletal dysplasia-coarse face with full lips syndrome" EXACT [Orphanet:3219]
synonym: "deafness-skeletal dysplasia-lip granuloma syndrome" EXACT [Orphanet:3219]
synonym: "fountain syndrome" EXACT [OMIM:229120]
synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips" RELATED [GARD:0000064]
synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120]
xref: GARD:0000064 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3219/attributed", source="ORDO:3219/ntbt", source="Orphanet:3219"}
xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e", source="MONDO:ontobio"}
xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e"}
xref: Orphanet:3219 {source="MONDO:equivalentTo", source="OMIM:229120"}
xref: SCTID:720957007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0795944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e", source="OMIM:229120"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3219", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:3219"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:3219"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537270
property_value: exactMatch http://identifiers.org/omim/229120
property_value: exactMatch http://identifiers.org/snomedct/720957007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795944
property_value: exactMatch Orphanet:3219
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome xsd:anyURI {source="GARD:0000064"}

[Term]
id: MONDO:0009242
name: brittle cornea syndrome
def: "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." [Orphanet:90354]
subset: gard_rare {source="GARD:0001019"}
subset: ordo_disease {source="Orphanet:90354"}
subset: prototype_pattern
synonym: "BCS1" RELATED [MONDO:Lexical, OMIM:229200]
synonym: "brittle cornea syndrome" EXACT []
synonym: "brittle cornea syndrome 1" RELATED [MONDO:Lexical, OMIM:229200]
synonym: "brittle cornea syndrome 2" NARROW [DOID:14775]
synonym: "brittle cornea syndrome type 1" EXACT [MONDORULE:1, OMIM:229200]
synonym: "EDS VIB (formerly)" RELATED [GARD:0001019]
synonym: "Ehlers-Danlos syndrome type 6b" RELATED []
synonym: "Ehlers-Danlos syndrome type 6B (formerly)" RELATED [GARD:0001019]
synonym: "kyphoscoliosis type" EXACT [DOID:14775]
synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775]
xref: DOID:14775 {source="MONDO:equivalentTo"}
xref: GARD:0001019 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:90354/attributed", source="ORDO:90354/ntbt", source="Orphanet:90354"}
xref: OMIMPS:229200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:equivalentTo"}
xref: SCTID:719096006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:14775", source="linkedlifedata"} ! corneal disease
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0020066 {source="DOID:14775", source="MONDOLEX:0009242", source="Orphanet:90354", source="linkedlifedata"} ! Ehlers-Danlos syndrome
is_a: MONDO:0020272 {source="Orphanet:90354"} ! connective tissue disease with eye involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/25606004
property_value: exactMatch DOID:14775
property_value: exactMatch http://identifiers.org/snomedct/719096006
property_value: exactMatch Orphanet:90354
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome xsd:anyURI {source="GARD:0001019"}

[Term]
id: MONDO:0009243
name: Fraser-like syndrome
synonym: "Fraser-like syndrome" EXACT [OMIM:229230]
synonym: "Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" RELATED [OMIM:229230]
xref: MESH:C565562 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229230 {source="MONDO:equivalentTo"}
xref: Orphanet:2051 {source="MONDO:equivalentTo", source="OMIM:229230"}
xref: UMLS:C1856708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:229230"}
xref: UMLS:CN200837 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565562
property_value: exactMatch http://identifiers.org/omim/229230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200837
property_value: exactMatch Orphanet:2051

[Term]
id: MONDO:0009244
name: Freesia Flowers, inability to smell
synonym: "Freesia Flowers, inability to smell" EXACT [OMIM:229250]
xref: OMIM:229250 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856707
property_value: exactMatch http://identifiers.org/omim/229250

[Term]
id: MONDO:0009245
name: Friedreich ataxia
def: "Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." [Orphanet:95]
subset: gard_rare {source="GARD:0006468"}
subset: ordo_disease {source="Orphanet:95"}
synonym: "FA" EXACT [Orphanet:95]
synonym: "Fa" RELATED [OMIM:229300]
synonym: "FRDA" EXACT [MONDO:Lexical, OMIM:229300, Orphanet:95]
synonym: "Frda1" RELATED [OMIM:229300]
synonym: "Friedreich ataxia 1" NARROW [DOID:12705]
synonym: "Friedreich ataxia 1" RELATED [MONDO:Lexical, OMIM:229300]
synonym: "Friedreich ataxia 1; FRDA" RELATED [OMIM:229300]
synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1, OMIM:229300]
synonym: "Friedreich ataxia with retained reflexes" RELATED [OMIM:229300]
synonym: "Friedreich's ataxia" EXACT [DOID:12705, ICD9CM_2006:334.0]
synonym: "Friedreich's tabes" EXACT [CSP2005:0485-3493, DOID:12705]
synonym: "hereditary spinal ataxia" RELATED [GARD:0006468]
synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468]
synonym: "spinocerebellar ataxia, Friedreich" RELATED [GARD:0006468]
xref: COHD:441554 {source="MONDO:equivalentTo"}
xref: DOID:12705 {source="MONDO:equivalentTo"}
xref: GARD:0006468 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:95/inclusion", source="ORDO:95/ntbt", source="Orphanet:95"}
xref: ICD9:334.0 {source="MONDO:equivalentTo", source="DOID:12705", source="i2s"}
xref: MedDRA:10017374 {source="ORDO:95/e", source="Orphanet:95"}
xref: MESH:D005621 {source="MONDO:equivalentTo", source="DOID:12705", source="ORDO:95/e", source="Orphanet:95"}
xref: NCIT:C84718 {source="MONDO:equivalentTo", source="DOID:12705", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:229300 {source="MONDO:equivalentTo", source="DOID:12705", source="ORDO:95/e", source="Orphanet:95"}
xref: Orphanet:95 {source="OMIM:229300", source="MONDO:equivalentTo"}
xref: SCTID:10394003 {source="MONDO:equivalentTo", source="DOID:12705", source="MONDO:kboom-pr-1.00/0.91/28.97"}
xref: UMLS:C0016719 {source="MONDO:equivalentTo", source="DOID:12705", source="NCIT:C84718", source="ORDO:95/e", source="Orphanet:95"}
is_a: MONDO:0016136 {source="Orphanet:95"} ! cerebellar ataxia with peripheral neuropathy
is_a: MONDO:0016329 {source="Orphanet:95"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0019058 {source="Orphanet:95"} ! neurometabolic disease
is_a: MONDO:0020046 {source="Orphanet:95"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0020264 {source="Orphanet:95"} ! spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
property_value: closeMatch http://identifiers.org/snomedct/155011003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847416
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856689
property_value: exactMatch DOID:12705
property_value: exactMatch http://identifiers.org/meddra/10017374
property_value: exactMatch http://identifiers.org/mesh/D005621
property_value: exactMatch http://identifiers.org/omim/229300
property_value: exactMatch http://identifiers.org/snomedct/10394003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016719
property_value: exactMatch NCIT:C84718
property_value: exactMatch Orphanet:95
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia xsd:anyURI {source="GARD:0006468"}

[Term]
id: MONDO:0009246
name: Friedreich ataxia and congenital glaucoma
synonym: "Friedreich ataxia and congenital glaucoma" EXACT [OMIM:229310]
xref: MESH:C538061 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229310 {source="MONDO:equivalentTo"}
xref: UMLS:C1856688 {source="OMIM:229310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538061/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538061
property_value: exactMatch http://identifiers.org/omim/229310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856688

[Term]
id: MONDO:0009247
name: frontofacionasal dysplasia
def: "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." [Orphanet:1791]
subset: gard_rare {source="GARD:0002390"}
subset: ordo_malformation_syndrome {source="Orphanet:1791"}
synonym: "Ffnd" RELATED [OMIM:229400]
synonym: "fronto-facio-nasal dyplasia" RELATED [GARD:0002390]
synonym: "fronto-facio-nasal dysostosis" RELATED [GARD:0002390]
synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400]
synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400]
synonym: "Gollop syndrome" EXACT [Orphanet:1791]
xref: GARD:0002390 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.8 {source="Orphanet:1791", source="ORDO:1791/attributed", source="ORDO:1791/ntbt"}
xref: MESH:C538063 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="ORDO:1791/e"}
xref: Orphanet:1791 {source="OMIM:229400", source="MONDO:equivalentTo"}
xref: SCTID:716022002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2931720 {source="Orphanet:1791", source="OMIM:229400", source="MONDO:equivalentTo", source="ORDO:1791/e"}
is_a: MONDO:0015218 {source="Orphanet:1791"} ! syndromic developmental defect of the eye
is_a: MONDO:0015334 {source="Orphanet:1791"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015412 {source="Orphanet:1791"} ! median facial cleft
is_a: MONDO:0016643 {source="Orphanet:1791"} ! frontonasal dysplasia
is_a: MONDO:0020156 {source="Orphanet:1791"} ! syndromic ankyloblepharon
is_a: MONDO:0020157 {source="Orphanet:1791"} ! syndromic palpebral coloboma
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1791"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856687
property_value: exactMatch http://identifiers.org/mesh/C538063
property_value: exactMatch http://identifiers.org/omim/229400
property_value: exactMatch http://identifiers.org/snomedct/716022002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931720
property_value: exactMatch Orphanet:1791
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia xsd:anyURI {source="GARD:0002390"}

[Term]
id: MONDO:0009248
name: fructose and galactose intolerance
synonym: "fructose and galactose intolerance" EXACT [OMIM:229500]
xref: MESH:C565558 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229500 {source="MONDO:equivalentTo"}
xref: UMLS:C1856686 {source="OMIM:229500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565558/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565558
property_value: exactMatch http://identifiers.org/omim/229500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856686

[Term]
id: MONDO:0009249
name: hereditary fructose intolerance
def: "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." [Orphanet:469]
subset: ordo_disease {source="Orphanet:469"}
synonym: "Aldob deficiency" RELATED [OMIM:229600]
synonym: "aldolase B deficiency" RELATED [OMIM:229600]
synonym: "Fructosaemia" EXACT [DOID:9869]
synonym: "fructose intolerance" EXACT [NCIT:C84720]
synonym: "fructose intolerance, hereditary" RELATED [OMIM:229600]
synonym: "fructose-1,6-bisphosphate aldolase B deficiency" EXACT [DOID:9869, OMIM:229600]
synonym: "fructose-1-phosphate aldolase deficiency" RELATED [OMIM:229600]
synonym: "fructosemia" EXACT [DOID:9869, MTHICD9_2006:271.2, OMIM:229600]
synonym: "hereditary fructose intolerance syndrome" EXACT [MONDO:0004906]
synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:469]
synonym: "hereditary fructosemia" EXACT [Orphanet:469]
xref: DOID:9869 {source="MONDO:equivalentTo"}
xref: GARD:0006622 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.1 {source="Orphanet:469", source="ORDO:469/inclusion", source="ORDO:469/ntbt"}
xref: ICD10:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"}
xref: ICD9:271.2 {source="DOID:9869"}
xref: MedDRA:10019878 {source="ORDO:469/e", source="Orphanet:469"}
xref: NCIT:C84720 {source="DOID:9869", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:229600 {source="ORDO:469/e", source="Orphanet:469", source="MONDO:equivalentTo"}
xref: Orphanet:469 {source="OMIM:229600", source="MONDO:equivalentTo"}
xref: SCTID:20052008 {source="DOID:9869", source="MONDO:equivalentTo"}
xref: UMLS:C0016751 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:469", source="DOID:9869", source="NCBI:mim2gene_medline", source="OMIM:229600", source="MONDO:equivalentTo", source="NCIT:C84720"}
is_a: MONDO:0015178 {source="Orphanet:469"} ! congenital intestinal transport defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017689 {source="Orphanet:469", source="linkedlifedata/inferred"} ! disorder of fructose metabolism
is_a: MONDO:0017706 {source="Orphanet:469"} ! disorder of carbohydrate absorption and transport
is_a: MONDO:0019743 {source="Orphanet:469"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/20290005
property_value: closeMatch http://identifiers.org/snomedct/237962008
property_value: exactMatch DOID:9869
property_value: exactMatch http://identifiers.org/meddra/10019878
property_value: exactMatch http://identifiers.org/mesh/D005633
property_value: exactMatch http://identifiers.org/omim/229600
property_value: exactMatch http://identifiers.org/snomedct/20052008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016751
property_value: exactMatch NCIT:C84720
property_value: exactMatch Orphanet:469

[Term]
id: MONDO:0009250
name: fructose utilization
synonym: "fructose utilization" EXACT [OMIM:229650]
xref: OMIM:229650 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856672
property_value: exactMatch http://identifiers.org/omim/229650

[Term]
id: MONDO:0009251
name: fructose-1,6-bisphosphatase deficiency
def: "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." [Orphanet:348]
subset: ordo_disease {source="Orphanet:348"}
synonym: "baker-Winegrad disease" RELATED [GARD:0002400]
synonym: "FBP1D" RELATED [MONDO:Lexical, OMIM:229700]
synonym: "fructose 1 phosphate aldolase deficiency" EXACT [CSP2005:1849-3494, DOID:5204]
synonym: "fructose 1,6 diphosphatase deficiency" RELATED [GARD:0002400]
synonym: "fructose-1,6-bisphosphatase deficiency" EXACT [MONDO:Lexical, OMIM:229700]
synonym: "fructose-1,6-bisphosphatase deficiency; FBP1D" RELATED [OMIM:229700]
synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204]
xref: DOID:5204 {source="MONDO:equivalentTo"}
xref: GARD:0002400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.1 {source="Orphanet:348", source="ORDO:348/attributed", source="ORDO:348/ntbt"}
xref: ICD10:E74.19 {source="DOID:5204"}
xref: NCIT:C128119 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:229700 {source="ORDO:348/e", source="Orphanet:348", source="DOID:5204", source="MONDO:equivalentTo"}
xref: Orphanet:348 {source="OMIM:229700", source="MONDO:equivalentTo"}
xref: SCTID:28183005 {source="DOID:5204", source="MONDO:equivalentTo"}
xref: UMLS:C0016756 {source="ORDO:348/e", source="Orphanet:348", source="OMIM:229700", source="DOID:5204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128119"}
is_a: MONDO:0017689 {source="Orphanet:348", source="linkedlifedata"} ! disorder of fructose metabolism
is_a: MONDO:0019225 {source="Orphanet:348"} ! gluconeogenesis disorder
property_value: closeMatch http://identifiers.org/mesh/D015319
property_value: exactMatch DOID:5204
property_value: exactMatch http://identifiers.org/omim/229700
property_value: exactMatch http://identifiers.org/snomedct/28183005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016756
property_value: exactMatch NCIT:C128119
property_value: exactMatch Orphanet:348

[Term]
id: MONDO:0009252
name: essential fructosuria
def: "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." [Orphanet:2056]
subset: ordo_disease {source="Orphanet:2056"}
synonym: "fructokinase deficiency" EXACT [Orphanet:2056]
synonym: "fructosuria, essential" RELATED [OMIM:229800]
synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800]
synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056]
xref: ICD10:E74.1 {source="Orphanet:2056", source="ORDO:2056/attributed", source="ORDO:2056/ntbt"}
xref: ICD10:E74.11 {source="MONDO:equivalentTo"}
xref: MedDRA:10015487 {source="Orphanet:2056", source="ORDO:2056/e"}
xref: MESH:C538068 {source="Orphanet:2056", source="ORDO:2056/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:229800 {source="Orphanet:2056", source="ORDO:2056/e", source="MONDO:equivalentTo"}
xref: Orphanet:2056 {source="MONDO:equivalentTo", source="OMIM:229800"}
xref: SCTID:40278002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268160 {source="Orphanet:2056", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017689 {source="Orphanet:2056", source="linkedlifedata/inferred"} ! disorder of fructose metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1416630
property_value: exactMatch http://identifiers.org/meddra/10015487
property_value: exactMatch http://identifiers.org/mesh/C538068
property_value: exactMatch http://identifiers.org/omim/229800
property_value: exactMatch http://identifiers.org/snomedct/40278002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268160
property_value: exactMatch Orphanet:2056

[Term]
id: MONDO:0009253
name: Fryns syndrome
def: "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." [Orphanet:2059]
subset: gard_rare {source="GARD:0003699"}
subset: ordo_malformation_syndrome {source="Orphanet:2059"}
synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [OMIM:229850]
synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [Orphanet:2059]
synonym: "FRNS" RELATED [MONDO:Lexical, OMIM:229850]
synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850]
synonym: "Fryns syndrome; FRNS" RELATED [OMIM:229850]
synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699]
xref: GARD:0003699 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2059", source="ORDO:2059/attributed", source="ORDO:2059/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538070 {source="ORDO:2059/e", source="Orphanet:2059", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98932 {source="MONDO:kboom-pr-0.90/0.78/0.22", source="MONDO:equivalentTo"}
xref: OMIM:229850 {source="ORDO:2059/e", source="Orphanet:2059", source="MONDO:equivalentTo"}
xref: Orphanet:2059 {source="OMIM:229850", source="MONDO:equivalentTo"}
xref: SCTID:702432006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0220730 {source="OMIM:229850", source="ORDO:2059/e", source="NCBI:mim2gene_medline", source="Orphanet:2059", source="MONDO:equivalentTo", source="NCIT:C98932"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2059", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2059"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:2059"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: exactMatch http://identifiers.org/mesh/C538070
property_value: exactMatch http://identifiers.org/omim/229850
property_value: exactMatch http://identifiers.org/snomedct/702432006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220730
property_value: exactMatch NCIT:C98932
property_value: exactMatch Orphanet:2059
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome xsd:anyURI {source="GARD:0003699"}

[Term]
id: MONDO:0009254
name: fucosidosis
def: "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." [Orphanet:349]
subset: gard_rare {source="GARD:0006473"}
subset: ordo_disease {source="Orphanet:349"}
synonym: "A-fucosidase deficiency" EXACT [DOID:14500]
synonym: "alpha fucosidase deficiency" EXACT [CSP2005:1849-8519, DOID:14500]
synonym: "Alpha-L-fucosidase deficiency" EXACT [OMIM:230000, Orphanet:349]
synonym: "fucosidosis" EXACT [OMIM:230000]
synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473]
xref: DOID:14500 {source="MONDO:equivalentTo"}
xref: GARD:0006473 {source="MONDO:equivalentTo"}
xref: ICD10:E77.1 {source="Orphanet:349", source="ORDO:349/inclusion", source="ORDO:349/ntbt", source="DOID:14500"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005645 {source="ORDO:349/e", source="Orphanet:349", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14500"}
xref: NCIT:C61274 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:14500"}
xref: OMIM:230000 {source="ORDO:349/e", source="Orphanet:349", source="MONDO:equivalentTo", source="DOID:14500"}
xref: Orphanet:349 {source="MONDO:equivalentTo", source="OMIM:230000"}
xref: SCTID:64716005 {source="MONDO:equivalentTo", source="DOID:14500", source="MONDO:kboom-pr-1.00/0.80/9.33"}
xref: UMLS:C0016788 {source="ORDO:349/e", source="NCBI:mim2gene_medline", source="Orphanet:349", source="MONDO:equivalentTo", source="OMIM:230000", source="NCIT:C61274", source="DOID:14500"}
is_a: MONDO:0016326 {source="Orphanet:349"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis
is_a: MONDO:0019706 {source="Orphanet:349"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://identifiers.org/snomedct/190937009
property_value: exactMatch DOID:14500
property_value: exactMatch http://identifiers.org/mesh/D005645
property_value: exactMatch http://identifiers.org/omim/230000
property_value: exactMatch http://identifiers.org/snomedct/64716005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016788
property_value: exactMatch NCIT:C61274
property_value: exactMatch Orphanet:349
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6473/fucosidosis xsd:anyURI {source="GARD:0006473"}

[Term]
id: MONDO:0009255
name: galactokinase deficiency
def: "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." [Orphanet:79237]
subset: gard_rare {source="GARD:0002422"}
subset: ordo_disease {source="Orphanet:79237"}
synonym: "galactokinase deficiency" EXACT [OMIM:230200]
synonym: "galactokinase deficiency galactosemia" EXACT [Orphanet:79237]
synonym: "galactosemia 2" RELATED [OMIM:230200]
synonym: "galactosemia II" EXACT [DOID:14695]
synonym: "galactosemia type 2" EXACT [Orphanet:79237]
synonym: "GALK deficiency" EXACT [Orphanet:79237]
synonym: "Galk deficiency" RELATED [OMIM:230200]
synonym: "GALK-D" EXACT [Orphanet:79237]
synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422]
xref: DOID:14695 {source="MONDO:equivalentTo"}
xref: GARD:0002422 {source="MONDO:equivalentTo"}
xref: ICD10:E74.2 {source="Orphanet:79237", source="ORDO:79237/attributed", source="ORDO:79237/ntbt"}
xref: ICD10:E74.29 {source="DOID:14695"}
xref: NCIT:C114767 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14695"}
xref: OMIM:230200 {source="Orphanet:79237", source="MONDO:equivalentTo", source="DOID:14695", source="ORDO:79237/e"}
xref: Orphanet:79237 {source="MONDO:equivalentTo", source="OMIM:230200"}
xref: SCTID:124302001 {source="MONDO:kboom-pr-1.00/0.79/7.73", source="MONDO:equivalentTo", source="DOID:14695"}
xref: UMLS:C0268155 {source="Orphanet:79237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14695", source="OMIM:230200", source="ORDO:79237/e", source="NCIT:C114767"}
is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="Orphanet:79237"} ! galactosemia
property_value: closeMatch http://identifiers.org/snomedct/18612007
property_value: exactMatch DOID:14695
property_value: exactMatch http://identifiers.org/mesh/C535999
property_value: exactMatch http://identifiers.org/omim/230200
property_value: exactMatch http://identifiers.org/snomedct/124302001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751158
property_value: exactMatch NCIT:C114767
property_value: exactMatch Orphanet:79237
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency xsd:anyURI {source="GARD:0002422"}

[Term]
id: MONDO:0009256
name: galactorrhea (disease)
def: "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia." [MESH:D005687]
synonym: "galactorrhea" EXACT [MONDO:ambiguous, OMIM:230300]
xref: HP:0100829 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:611.6 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005687 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:230300 {source="MONDO:equivalentTo"}
xref: SCTID:78622004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.02"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0235660
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665358
property_value: exactMatch http://identifiers.org/mesh/D005687
property_value: exactMatch http://identifiers.org/omim/230300
property_value: exactMatch http://identifiers.org/snomedct/78622004

[Term]
id: MONDO:0009257
name: galactose epimerase deficiency
def: "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." [Orphanet:79238]
subset: gard_rare {source="GARD:0005392"}
subset: ordo_disease {source="Orphanet:79238"}
synonym: "epimerase deficiency galactosemia" EXACT [Orphanet:79238]
synonym: "galactose epimerase deficiency" EXACT [OMIM:230350]
synonym: "galactosemia 3" RELATED [OMIM:230350]
synonym: "galactosemia type 3" EXACT [Orphanet:79238]
synonym: "GALE deficiency" EXACT [Orphanet:79238]
synonym: "Gale deficiency" RELATED [OMIM:230350]
synonym: "GALE-D" EXACT [Orphanet:79238]
synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:79238]
synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238]
xref: GARD:0005392 {source="MONDO:equivalentTo"}
xref: ICD10:E74.2 {source="Orphanet:79238", source="ORDO:79238/attributed", source="ORDO:79238/ntbt"}
xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="ORDO:79238/e"}
xref: Orphanet:79238 {source="MONDO:equivalentTo", source="OMIM:230350"}
xref: SCTID:8849004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.28"}
is_a: MONDO:0018116 {source="Orphanet:79238", source="linkedlifedata"} ! galactosemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751161
property_value: exactMatch http://identifiers.org/omim/230350
property_value: exactMatch http://identifiers.org/snomedct/8849004
property_value: exactMatch Orphanet:79238
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency xsd:anyURI {source="GARD:0005392"}

[Term]
id: MONDO:0009258
name: classic galactosemia
def: "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." [Orphanet:79239]
subset: ordo_disease {source="Orphanet:79239"}
synonym: "classical galactosemia, homozygous duarte-type" NARROW []
synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [Orphanet:79239]
synonym: "galactose-1-phosphate uridylyltransferase deficiency" RELATED [OMIM:230400]
synonym: "galactosemia" RELATED [OMIM:230400]
synonym: "galactosemia type 1" EXACT [Orphanet:79239]
synonym: "galactosemia, classic" RELATED [OMIM:230400]
synonym: "galactosemia, Duarte variant" RELATED [OMIM:230400]
synonym: "GALT deficiency" EXACT [Orphanet:79239]
synonym: "Galt deficiency" RELATED [OMIM:230400]
xref: ICD10:E74.2 {source="Orphanet:79239", source="ORDO:79239/attributed", source="ORDO:79239/ntbt"}
xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="ORDO:79239/e"}
xref: Orphanet:79239 {source="MONDO:equivalentTo", source="OMIM:230400"}
xref: SCTID:10899004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018116 {source="Orphanet:79239"} ! galactosemia
is_a: MONDO:0018413 {source="Orphanet:79239"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019852 {source="Orphanet:79239"} ! inherited primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278146
property_value: exactMatch http://identifiers.org/omim/230400
property_value: exactMatch http://identifiers.org/snomedct/10899004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268151
property_value: exactMatch Orphanet:79239

[Term]
id: MONDO:0009259
name: gamma-glutamylcysteine synthetase deficiency
def: "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." [Orphanet:33574]
subset: ordo_disease {source="Orphanet:33574"}
synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" RELATED [OMIM:230450]
synonym: "glutamate-cysteine ligase deficiency" EXACT [Orphanet:33574]
synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT []
synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glutamate-cysteine ligase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:D55.1 {source="ORDO:33574/attributed", source="ORDO:33574/ntbt", source="Orphanet:33574"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565557 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:230450 {source="MONDO:equivalentTo", source="ORDO:33574/e", source="Orphanet:33574"}
xref: Orphanet:33574 {source="MONDO:equivalentTo", source="OMIM:230450"}
xref: SCTID:36799008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0020105 {source="Orphanet:33574"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
is_a: MONDO:0040566 ! inherited glutathione metabolism disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856603
property_value: exactMatch http://identifiers.org/mesh/C565557
property_value: exactMatch http://identifiers.org/omim/230450
property_value: exactMatch http://identifiers.org/snomedct/36799008
property_value: exactMatch Orphanet:33574

[Term]
id: MONDO:0009260
name: GM1 gangliosidosis type 1
alt_id: MONDO:0023211
def: "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." [Orphanet:79255]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:79255"}
synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479]
synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500]
synonym: "gangliosidosis generalized GM1 infantile form" RELATED [GARD:0006479]
synonym: "gangliosidosis generalized GM1 type 1" RELATED [GARD:0006479]
synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [OMIM:230500]
synonym: "gangliosidosis, generalized GM1, type 1" RELATED [OMIM:230500]
synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [OMIM:230500]
synonym: "GLB deficiency type 1" RELATED [GARD:0006479]
synonym: "Glb1 deficiency" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type 1" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type I" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [OMIM:230500]
synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255]
synonym: "Norman-Landing disease" EXACT [Orphanet:79255]
xref: GARD:0006479 {source="MONDO:equivalentTo"}
xref: ICD10:E75.1 {source="ORDO:79255/attributed", source="ORDO:79255/ntbt", source="Orphanet:79255"}
xref: OMIM:230500 {source="GARD:0006479", source="MONDO:equivalentTo", source="ORDO:79255/e", source="Orphanet:79255"}
xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source="OMIM:230500"}
xref: SCTID:238026007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018149 {source="DC-OMIM:230500", source="MONDOLEX:0009260", source="Orphanet:79255"} ! GM1 gangliosidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268271
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968748
property_value: exactMatch http://identifiers.org/omim/230500
property_value: exactMatch http://identifiers.org/snomedct/238026007
property_value: exactMatch Orphanet:79255
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 xsd:anyURI {source="GARD:0006479"}

[Term]
id: MONDO:0009261
name: GM1 gangliosidosis type 2
def: "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." [Orphanet:79256]
subset: gard_rare {source="GARD:0010126"}
subset: ordo_clinical_subtype {source="Orphanet:79256"}
synonym: "gangliosidosis generalized GM1 juvenile type" RELATED [GARD:0010126]
synonym: "gangliosidosis generalized GM1 type 2" RELATED [GARD:0010126]
synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [OMIM:230600]
synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [OMIM:230600]
synonym: "gangliosidosis, generalized GM1, type 2" RELATED [OMIM:230600]
synonym: "GM1-gangliosidosis, type 2" RELATED [OMIM:230600]
synonym: "GM1-gangliosidosis, type II" RELATED [OMIM:230600]
synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256]
synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256]
xref: GARD:0010126 {source="MONDO:equivalentTo"}
xref: ICD10:E75.1 {source="ORDO:79256/attributed", source="ORDO:79256/ntbt", source="Orphanet:79256"}
xref: OMIM:230600 {source="MONDO:equivalentTo", source="ORDO:79256/e", source="Orphanet:79256"}
xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"}
xref: SCTID:18756002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018149 {source="DC-OMIM:230600", source="MONDOLEX:0009261", source="Orphanet:79256"} ! GM1 gangliosidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268272
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968746
property_value: exactMatch http://identifiers.org/omim/230600
property_value: exactMatch http://identifiers.org/snomedct/18756002
property_value: exactMatch Orphanet:79256
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 xsd:anyURI {source="GARD:0010126"}

[Term]
id: MONDO:0009262
name: GM1 gangliosidosis type 3
def: "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." [Orphanet:79257]
subset: gard_rare {source="GARD:0002431"}
subset: ordo_clinical_subtype {source="Orphanet:79257"}
synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431]
synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257]
synonym: "Beta-galactosidase deficiency type 3" RELATED [GARD:0002431]
synonym: "gangliosidosis generalized GM1 chronic type" RELATED [GARD:0002431]
synonym: "gangliosidosis GM1 type 3" RELATED [GARD:0002431]
synonym: "gangliosidosis, generalized GM1, adult type" RELATED [OMIM:230650]
synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [OMIM:230650]
synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650]
synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650]
synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650]
xref: GARD:0002431 {source="MONDO:equivalentTo"}
xref: ICD10:E75.1 {source="ORDO:79257/attributed", source="ORDO:79257/ntbt", source="Orphanet:79257"}
xref: OMIM:230650 {source="MONDO:equivalentTo", source="ORDO:79257/e", source="Orphanet:79257"}
xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"}
xref: SCTID:238027003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.03"}
is_a: MONDO:0018149 {source="DC-OMIM:230650", source="MONDOLEX:0009262", source="Orphanet:79257"} ! GM1 gangliosidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268273
property_value: exactMatch http://identifiers.org/omim/230650
property_value: exactMatch http://identifiers.org/snomedct/238027003
property_value: exactMatch Orphanet:79257
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 xsd:anyURI {source="GARD:0002431"}

[Term]
id: MONDO:0009263
name: gapo syndrome
def: "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" [Orphanet:2067]
subset: gard_rare {source="GARD:0000400"}
subset: ordo_malformation_syndrome {source="Orphanet:2067"}
synonym: "gapo syndrome" EXACT [OMIM:230740]
synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [Orphanet:2067]
synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400]
synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740]
xref: GARD:0000400 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2067", source="ORDO:2067/attributed", source="ORDO:2067/ntbt"}
xref: OMIM:230740 {source="Orphanet:2067", source="ORDO:2067/e", source="MONDO:equivalentTo"}
xref: Orphanet:2067 {source="MONDO:equivalentTo", source="OMIM:230740"}
xref: SCTID:721843003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2067", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2067"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015336 {source="Orphanet:2067"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0018609 {source="Orphanet:2067"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:2067", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/230740
property_value: exactMatch http://identifiers.org/snomedct/721843003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406723
property_value: exactMatch Orphanet:2067
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome xsd:anyURI {source="GARD:0000400"}

[Term]
id: MONDO:0009264
name: gastroschisis
def: "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." [Orphanet:2368]
subset: gard_rare {source="GARD:0008661"}
subset: ordo_morphological_anomaly {source="Orphanet:2368"}
synonym: "abdominal wall defects" RELATED [OMIM:230750]
synonym: "congenital fissure of the abdominal cavity" RELATED [GARD:0008661]
synonym: "eventration" EXACT [NCIT:C84725]
synonym: "gastroschisis" EXACT [OMIM:230750]
synonym: "laparoschisis" EXACT [Orphanet:2368]
xref: COHD:4218764 {source="MONDO:equivalentTo"}
xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"}
xref: EFO:1000949 {source="MONDO:equivalentTo"}
xref: GARD:0008661 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.3 {source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044"}
xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"}
xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="ORDO:2368/e"}
xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044", source="MONDO:ontobio"}
xref: NCIT:C84725 {source="EFO:1000949", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:11044"}
xref: OMIM:230750 {source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044"}
xref: Orphanet:2368 {source="MONDO:equivalentTo", source="OMIM:230750"}
xref: SCTID:72951007 {source="EFO:1000949", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11044"}
xref: UMLS:C0265706 {source="Orphanet:2368", source="NCBI:mim2gene_medline", source="NCIT:C84725", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044", source="OMIM:230750"}
is_a: MONDO:0015215 {source="Orphanet:2368"} ! non-syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0018241 {source="Orphanet:2368"} ! primary short bowel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238577
property_value: exactMatch DOID:11044
property_value: exactMatch http://identifiers.org/meddra/10018046
property_value: exactMatch http://identifiers.org/mesh/D020139
property_value: exactMatch http://identifiers.org/omim/230750
property_value: exactMatch http://identifiers.org/snomedct/72951007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265706
property_value: exactMatch NCIT:C84725
property_value: exactMatch Orphanet:2368
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8661/gastroschisis xsd:anyURI {source="GARD:0008661"}

[Term]
id: MONDO:0009265
name: Gaucher disease type I
def: "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." [Orphanet:77259]
subset: ordo_clinical_subtype {source="Orphanet:77259"}
synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957]
synonym: "Gaucher disease type 1" RELATED [Orphanet:77259]
synonym: "Gaucher disease, noncerebral juvenile" EXACT [DOID:0110957, OMIM:230800]
synonym: "Gaucher disease, type 1" RELATED [OMIM:230800]
synonym: "Gaucher disease, type I" RELATED [OMIM:230800]
synonym: "Gaucher's disease type I" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gba deficiency" EXACT [DOID:0110957, OMIM:230800]
synonym: "Gd 1" RELATED [OMIM:230800]
synonym: "GD I" EXACT [DOID:0110957]
synonym: "glucocerebrosidase deficiency" EXACT EXCLUDE [DOID:0110957]
synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259]
xref: DOID:0110957 {source="MONDO:equivalentTo"}
xref: GARD:0002441 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:77259", source="DOID:0110957", source="ORDO:77259/attributed", source="ORDO:77259/ntbt"}
xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="ORDO:77259/e"}
xref: Orphanet:77259 {source="OMIM:230800", source="MONDO:equivalentTo", source="DOID:0110957"}
is_a: MONDO:0016341 {source="Orphanet:77259", source="Orphanet:77259/inferred"} ! lysosomal disease with restrictive cardiomyopathy
is_a: MONDO:0017037 {source="Orphanet:77259"} ! secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
is_a: MONDO:0018150 {source="DC-OMIM:230800", source="DOID:0110957", source="MONDOLEX:0009265", source="Orphanet:77259"} ! Gaucher disease
is_a: MONDO:0018377 {source="Orphanet:77259"} ! rare hereditary disease with avascular necrosis
is_a: MONDO:0020143 {source="Orphanet:77259"} ! cerebral lipidosis with dementia
property_value: exactMatch DOID:0110957
property_value: exactMatch http://identifiers.org/omim/230800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1961835
property_value: exactMatch Orphanet:77259

[Term]
id: MONDO:0009266
name: Gaucher disease type II
def: "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." [Orphanet:77260]
subset: ordo_clinical_subtype {source="Orphanet:77260"}
synonym: "acute neuronopathic Gaucher disease" EXACT [Orphanet:77260]
synonym: "Gaucher disease type 2" RELATED [Orphanet:77260]
synonym: "Gaucher disease, acute neuronopathic type" EXACT [DOID:0110958, OMIM:230900]
synonym: "Gaucher disease, infantile cerebral" RELATED [GARD:0002442]
synonym: "Gaucher disease, type 2" RELATED [OMIM:230900]
synonym: "Gaucher disease, type II" RELATED [OMIM:230900]
synonym: "Gaucher's disease type II" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gd 2" RELATED [OMIM:230900]
synonym: "GD II" EXACT [DOID:0110958]
synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260]
xref: DOID:0110958 {source="MONDO:equivalentTo"}
xref: GARD:0002442 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="DOID:0110958", source="ORDO:77260/attributed", source="ORDO:77260/ntbt", source="Orphanet:77260"}
xref: OMIM:230900 {source="ORDO:77260/e", source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260"}
xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO:equivalentTo"}
xref: SCTID:12246008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.27"}
is_a: MONDO:0017024 {source="Orphanet:77260"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease
is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="MONDOLEX:0009266", source="Orphanet:77260", source="linkedlifedata"} ! Gaucher disease
is_a: MONDO:0018299 {source="Orphanet:77260"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019058 {source="Orphanet:77260"} ! neurometabolic disease
is_a: MONDO:0020143 {source="Orphanet:77260"} ! cerebral lipidosis with dementia
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0110958
property_value: exactMatch http://identifiers.org/omim/230900
property_value: exactMatch http://identifiers.org/snomedct/12246008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268250
property_value: exactMatch Orphanet:77260

[Term]
id: MONDO:0009267
name: Gaucher disease type III
def: "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." [Orphanet:77261]
subset: ordo_clinical_subtype {source="Orphanet:77261"}
synonym: "cerebral juvenile and adult form of Gaucher disease" EXACT [Orphanet:77261]
synonym: "chronic neuronopathic Gaucher disease" EXACT [Orphanet:77261]
synonym: "Gaucher disease type 3" RELATED [Orphanet:77261]
synonym: "Gaucher disease, chronic neuronopathic type" EXACT [DOID:0110959]
synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [DOID:0110959, OMIM:231000]
synonym: "Gaucher disease, Norrbottnian type" RELATED [OMIM:231000]
synonym: "Gaucher disease, Subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000]
synonym: "Gaucher disease, subacute neuronopathic type" EXACT [Orphanet:77261]
synonym: "Gaucher disease, type 3" RELATED [OMIM:231000]
synonym: "Gaucher disease, type 3A" RELATED [OMIM:231000]
synonym: "Gaucher disease, type 3B" RELATED [OMIM:231000]
synonym: "Gaucher disease, type III" RELATED [OMIM:231000]
synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gd 3" RELATED [OMIM:231000]
synonym: "GD III" EXACT [DOID:0110959]
xref: DOID:0110959 {source="MONDO:equivalentTo"}
xref: GARD:0002443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:77261/attributed", source="ORDO:77261/ntbt", source="Orphanet:77261", source="DOID:0110959"}
xref: OMIM:231000 {source="MONDO:equivalentTo", source="ORDO:77261/e", source="Orphanet:77261", source="DOID:0110959"}
xref: Orphanet:77261 {source="MONDO:equivalentTo", source="OMIM:231000", source="DOID:0110959"}
xref: SCTID:5963005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0016341 {source="Orphanet:77261", source="Orphanet:77261/inferred"} ! lysosomal disease with restrictive cardiomyopathy
is_a: MONDO:0017024 {source="Orphanet:77261"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease
is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="MONDOLEX:0009267", source="Orphanet:77261", source="linkedlifedata"} ! Gaucher disease
is_a: MONDO:0018299 {source="Orphanet:77261"} ! sphingolipidosis with epilepsy
is_a: MONDO:0018377 {source="Orphanet:77261"} ! rare hereditary disease with avascular necrosis
is_a: MONDO:0019058 {source="Orphanet:77261"} ! neurometabolic disease
is_a: MONDO:0020143 {source="Orphanet:77261"} ! cerebral lipidosis with dementia
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856491
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856492
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856493
property_value: exactMatch DOID:0110959
property_value: exactMatch http://identifiers.org/omim/231000
property_value: exactMatch http://identifiers.org/snomedct/5963005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268251
property_value: exactMatch Orphanet:77261

[Term]
id: MONDO:0009268
name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
def: "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." [Orphanet:2072]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:2072"}
synonym: "cardiovascular Gaucher disease" EXACT [Orphanet:2072]
synonym: "Gaucher disease - ophthalmoplegia - cardiovascular calcification" RELATED [GARD:0012504]
synonym: "Gaucher disease type 3C" EXACT [Orphanet:2072]
synonym: "Gaucher disease, type 3C" RELATED [OMIM:231005]
synonym: "Gaucher disease, type IIIC" RELATED [OMIM:231005]
synonym: "Gaucher-like disease" EXACT [Orphanet:2072]
synonym: "pseudo Gaucher disease" RELATED [GARD:0002445]
xref: GARD:0002445 {source="MONDO:equivalentTo"}
xref: GARD:0012504 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.2 {source="ORDO:2072/attributed", source="ORDO:2072/ntbt", source="Orphanet:2072"}
xref: OMIM:231005 {source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072", source="ORDO:2072/e"}
xref: Orphanet:2072 {source="MONDO:equivalentTo", source="OMIM:231005"}
xref: UMLS:C1856476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2072", source="OMIM:231005", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2931585 {source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072", source="ORDO:2072/e", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018150 {source="MONDOLEX:0009268", source="Orphanet:2072"} ! Gaucher disease
property_value: exactMatch http://identifiers.org/omim/231005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931585
property_value: exactMatch Orphanet:2072

[Term]
id: MONDO:0009269
name: geleophysic dysplasia 1
def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." [MONDO:design_pattern]
synonym: "ADAMTSL2 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "geleophysic dysplasia 1" EXACT [MONDO:Lexical, OMIM:231050]
synonym: "GELEOPHYSIC dysplasia 1; GPHYSD1" RELATED [OMIM:231050]
synonym: "geleophysic dysplasia caused by mutation in ADAMTSL2" EXACT [MONDO:design_pattern]
synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1, OMIM:231050]
synonym: "GPHYSD1" RELATED [MONDO:Lexical, OMIM:231050]
xref: OMIM:231050 {source="MONDO:equivalentTo"}
xref: UMLS:C3278147 {source="OMIM:231050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000127 {source="DC-OMIM:231050", source="MONDO:Redundant", source="OMIM:231050"} ! geleophysic dysplasia
property_value: exactMatch http://identifiers.org/omim/231050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278147

[Term]
id: MONDO:0009270
name: genito-palato-cardiac syndrome
def: "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." [Orphanet:2075]
subset: gard_rare {source="GARD:0002460"}
subset: ordo_malformation_syndrome {source="Orphanet:2075"}
synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [OMIM:231060, Orphanet:2075]
synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460]
synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060]
synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060]
xref: GARD:0002460 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2075/attributed", source="ORDO:2075/ntbt", source="Orphanet:2075"}
xref: MESH:C537683 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2075/e", source="Orphanet:2075"}
xref: OMIM:231060 {source="MONDO:equivalentTo", source="ORDO:2075/e", source="Orphanet:2075"}
xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"}
xref: UMLS:C1856466 {source="OMIM:231060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:2075/e", source="Orphanet:2075"}
is_a: MONDO:0015335 {source="Orphanet:2075"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020042 {source="Orphanet:2075"} ! syndrome with 46,XY disorder of sex development
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2075"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537683
property_value: exactMatch http://identifiers.org/omim/231060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856466
property_value: exactMatch Orphanet:2075
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome xsd:anyURI {source="GARD:0002460"}

[Term]
id: MONDO:0009271
name: geroderma osteodysplastica
def: "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." [Orphanet:2078]
subset: gard_rare {source="GARD:0000413"}
subset: ordo_malformation_syndrome {source="Orphanet:2078"}
synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical, OMIM:231070]
synonym: "Geroderma osteodysplasticum" RELATED [GARD:0000413]
synonym: "GERODERMA OSTEODYSPLASTICUM; GO" RELATED [OMIM:231070]
synonym: "Gerodermia osteodysplastica" RELATED [OMIM:231070]
synonym: "GO" RELATED [MONDO:Lexical, OMIM:231070]
synonym: "Walt Disney dwarfism" RELATED [OMIM:231070]
xref: GARD:0000413 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2078", source="ORDO:2078/attributed", source="ORDO:2078/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537799 {source="Orphanet:2078", source="ORDO:2078/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231070 {source="Orphanet:2078", source="ORDO:2078/e", source="MONDO:equivalentTo"}
xref: Orphanet:2078 {source="OMIM:231070", source="MONDO:equivalentTo"}
xref: SCTID:254116003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432255 {source="Orphanet:2078", source="OMIM:231070", source="ORDO:2078/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016175 {source="Orphanet:2078"} ! cutis laxa
is_a: MONDO:0019704 {source="Orphanet:2078"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C537799
property_value: exactMatch http://identifiers.org/omim/231070
property_value: exactMatch http://identifiers.org/snomedct/254116003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432255
property_value: exactMatch Orphanet:2078
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica xsd:anyURI {source="GARD:0000413"}

[Term]
id: MONDO:0009272
name: German syndrome
def: "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." [Orphanet:2077]
subset: ordo_malformation_syndrome {source="Orphanet:2077"}
synonym: "German syndrome" EXACT [OMIM:231080]
xref: ICD10:Q87.8 {source="Orphanet:2077", source="ORDO:2077/attributed", source="ORDO:2077/ntbt"}
xref: MESH:C562543 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="ORDO:2077/e"}
xref: Orphanet:2077 {source="MONDO:equivalentTo", source="OMIM:231080"}
xref: SCTID:733037000 {source="MONDO:equivalentTo"}
xref: UMLS:C3887495 {source="Orphanet:2077", source="MONDO:equivalentTo"}
is_a: MONDO:0016009 ! fetal trimethadione syndrome
is_a: MONDO:0018722 {source="Orphanet:2077"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019520 {source="Orphanet:2077"} ! syndromic lymphedema
property_value: exactMatch http://identifiers.org/mesh/C562543
property_value: exactMatch http://identifiers.org/omim/231080
property_value: exactMatch http://identifiers.org/snomedct/733037000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887495
property_value: exactMatch Orphanet:2077

[Term]
id: MONDO:0009273
name: hydatidiform mole, recurrent, 1
def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern]
synonym: "gestational trophoblastic disease" RELATED [OMIM:231090]
synonym: "hydatidiform mole" RELATED [OMIM:231090]
synonym: "hydatidiform Mole, complete" RELATED [OMIM:231090]
synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090]
synonym: "hydatidiform MOLE, recurrent, 1; HYDM1" RELATED [OMIM:231090]
synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090]
synonym: "HYDM1" RELATED [MONDO:Lexical, OMIM:231090]
synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:231090 {source="MONDO:equivalentTo"}
xref: UMLS:C3463897 {source="MONDO:equivalentTo", source="OMIM:231090"}
is_a: MONDO:0016785 {source="MONDO:Redundant", source="ORDO:254688/btnt"} ! complete hydatidiform mole
is_a: MONDO:0018944 {source="DC-OMIM:231090", source="MONDOLEX:0009273"} ! gestational trophoblastic neoplasm
property_value: exactMatch http://identifiers.org/omim/231090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463897

[Term]
id: MONDO:0009274
name: ghosal hematodiaphyseal dysplasia
def: "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." [Orphanet:1802]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1802"}
synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [Orphanet:1802]
synonym: "GHDD" RELATED [GARD:0010297, MONDO:Lexical, OMIM:231095]
synonym: "ghosal hematodiaphyseal dysplasia" EXACT [GARD:0010297, MONDO:Lexical, OMIM:231095]
synonym: "Ghosal hematodiaphyseal dysplasia syndrome" RELATED [GARD:0010297]
synonym: "GHOSAL hematodiaphyseal dysplasia; GHDD" RELATED [OMIM:231095]
synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802]
xref: GARD:0010297 {source="MONDO:equivalentTo"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565551 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231095 {source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802", source="ORDO:1802/e"}
xref: Orphanet:1802 {source="OMIM:231095", source="GARD:0010297", source="MONDO:equivalentTo"}
xref: SCTID:389214003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0019703 {source="Orphanet:1802"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856465
property_value: exactMatch http://identifiers.org/mesh/C565551
property_value: exactMatch http://identifiers.org/omim/231095
property_value: exactMatch http://identifiers.org/snomedct/389214003
property_value: exactMatch Orphanet:1802
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome xsd:anyURI {source="GARD:0010297"}

[Term]
id: MONDO:0009275
name: neonatal hemochromatosis
def: "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" [https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis]
subset: gard_rare {source="GARD:0007172"}
subset: ordo_disease {source="Orphanet:446"}
synonym: "alloimmune Hepatitis, congenital" RELATED [OMIM:231100]
synonym: "giant cell Hepatitis" RELATED [OMIM:231100]
synonym: "giant cell Hepatitis (formerly)" RELATED [GARD:0007172]
synonym: "giant cell Hepatitis, formerly" RELATED [OMIM:231100]
synonym: "hemochromatosis neonatal" RELATED [GARD:0007172]
synonym: "hemochromatosis, neonatal" RELATED [OMIM:231100]
synonym: "idiopathic neonatal hemochromatosis" RELATED [GARD:0007172]
synonym: "neonatal Hepatitis" RELATED [OMIM:231100]
synonym: "neonatal hepatitis (formerly)" RELATED [GARD:0007172]
synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100]
synonym: "Nh" RELATED [OMIM:231100]
synonym: "Nhc" RELATED [OMIM:231100]
xref: GARD:0007172 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="Orphanet:446", source="ORDO:446/attributed", source="ORDO:446/ntbt"}
xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:446/e"}
xref: NCIT:C129980 {source="MONDO:kboom-pr-0.93/0.86/0.09", source="MONDO:equivalentTo"}
xref: OMIM:231100 {source="Orphanet:446", source="MONDO:equivalentTo", source="ORDO:446/e"}
xref: Orphanet:446 {source="MONDO:equivalentTo", source="OMIM:231100"}
xref: UMLS:C0268059 {source="NCIT:C129980", source="Orphanet:446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231100", source="ORDO:446/e"}
is_a: MONDO:0006507 {source="DC-OMIM:231100", source="MESH:C536394", source="MONDO:Redundant"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536394
property_value: exactMatch http://identifiers.org/omim/231100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268059
property_value: exactMatch NCIT:C129980
property_value: exactMatch Orphanet:446
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis xsd:anyURI {source="GARD:0007172"}

[Term]
id: MONDO:0009276
name: Bernard-Soulier syndrome
def: "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." [Orphanet:274]
subset: ordo_disease {source="Orphanet:274"}
synonym: "Bernard - Soulier thrombopathy" EXACT [DOID:2217]
synonym: "Bernard Soulier syndrome" EXACT [CSP2005:4001-0130, DOID:2217]
synonym: "Bernard-Soulier syndrome" EXACT [MONDO:Lexical, OMIM:231200]
synonym: "Bernard-Soulier syndrome, type A1" RELATED [OMIM:231200]
synonym: "Bernard-Soulier syndrome, type B" RELATED [OMIM:231200]
synonym: "Bernard-Soulier syndrome, type C" RELATED [OMIM:231200]
synonym: "Bernard-Soulier syndrome; BSS" RELATED [OMIM:231200]
synonym: "bleeding disorder, Platelet-type, 1" RELATED [OMIM:231200]
synonym: "BSS" RELATED [MONDO:Lexical, OMIM:231200]
synonym: "deficiency of platelet glycoprotein 1b" RELATED [GARD:0002470]
synonym: "giant platelet disease" RELATED [GARD:0002470]
synonym: "giant platelet syndrome" EXACT [Orphanet:274]
synonym: "glycoprotein Ib, Platelet, deficiency of" RELATED [OMIM:231200]
synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT [DOID:2217]
synonym: "Hemorrhagiparous thrombocytic dystrophy" EXACT [Orphanet:274]
synonym: "macrothrombocytopenia, familial Bernard-Soulier type" RELATED [GARD:0002470]
synonym: "Platelet glycoprotein 1b, deficiency of" RELATED [GARD:0002470]
synonym: "Platelet glycoprotein Ib deficiency" RELATED [OMIM:231200]
synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217, MTHICD9_2006:287.1]
synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200]
xref: DOID:2217 {source="MONDO:equivalentTo"}
xref: GARD:0002470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.1 {source="ORDO:274/ntbt", source="Orphanet:274", source="ORDO:274/inclusion"}
xref: MedDRA:10057473 {source="ORDO:274/e", source="Orphanet:274"}
xref: MESH:D001606 {source="MONDO:equivalentTo", source="DOID:2217", source="ORDO:274/e", source="Orphanet:274"}
xref: NCIT:C84595 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2217"}
xref: OMIM:231200 {source="MONDO:equivalentTo", source="DOID:2217", source="ORDO:274/e", source="Orphanet:274"}
xref: Orphanet:274 {source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200"}
xref: SCTID:234478007 {source="MONDO:equivalentTo", source="DOID:2217", source="MONDO:kboom-pr-0.93/0.84/0.21"}
xref: UMLS:C0005129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200", source="ORDO:274/e", source="NCIT:C84595", source="Orphanet:274"}
is_a: MONDO:0002254 {source="MONDOLEX:0009276", source="NCIT:C84595"} ! syndromic disease
is_a: MONDO:0016361 {source="Orphanet:274"} ! isolated hereditary giant platelet disorder
property_value: closeMatch http://identifiers.org/snomedct/191309003
property_value: closeMatch http://identifiers.org/snomedct/54569005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856447
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856448
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278148
property_value: exactMatch DOID:2217
property_value: exactMatch http://identifiers.org/meddra/10057473
property_value: exactMatch http://identifiers.org/mesh/D001606
property_value: exactMatch http://identifiers.org/omim/231200
property_value: exactMatch http://identifiers.org/snomedct/234478007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005129
property_value: exactMatch NCIT:C84595
property_value: exactMatch Orphanet:274

[Term]
id: MONDO:0009277
name: glaucoma 3A
def: "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." [NCIT:C148260]
comment: Editor note: check DO placement
synonym: "buphthalmos" BROAD [DOID:11211]
synonym: "buphthalmos" RELATED [OMIM:231300]
synonym: "glaucoma 3, primary congenital, A" RELATED [MONDO:Lexical, OMIM:231300]
synonym: "glaucoma 3, primary congenital, A; GLC3A" RELATED [OMIM:231300]
synonym: "glaucoma 3, primary congenital, type a" EXACT [MONDORULE:1, OMIM:231300]
synonym: "glaucoma, congenital" RELATED [OMIM:231300]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:231300]
synonym: "glaucoma, primary open angle, juvenile-onset" RELATED [OMIM:231300]
synonym: "GLC3A" RELATED [MONDO:Lexical, OMIM:231300]
synonym: "Primary Congenital glaucoma 3A" EXACT [NCIT:C148260]
synonym: "simple buphthalmos" EXACT [DOID:11211]
xref: DOID:11211 {source="MONDO:equivalentTo"}
xref: ICD9:743.21 {source="DOID:11211"}
xref: NCIT:C148260 {source="MONDO:equivalentTo"}
xref: OMIM:231300 {source="MONDO:equivalentTo", source="DOID:11211"}
is_a: MONDO:0020366 {source="NCIT:C148260/inferred"} ! congenital glaucoma
relationship: excluded_subClassOf MONDO:0006788 {source="DOID:11211"} ! hydrophthalmos
property_value: closeMatch http://identifiers.org/snomedct/13832009
property_value: closeMatch http://identifiers.org/snomedct/204116009
property_value: closeMatch http://identifiers.org/snomedct/268157004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020302
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311251
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856439
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278152
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278153
property_value: exactMatch DOID:11211
property_value: exactMatch http://identifiers.org/omim/231300
property_value: exactMatch NCIT:C148260

[Term]
id: MONDO:0009278
name: hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
def: "Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure." [Orphanet:71212]
subset: gard_rare
subset: ordo_disease {source="Orphanet:71212"}
synonym: "3-alpha hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310]
synonym: "3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:231530]
synonym: "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310]
synonym: "3-hydroxylacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "had deficiency" RELATED [MESH:C535310]
synonym: "HADH deficiency" RELATED [GARD:0009870, MESH:C535310]
synonym: "Hadh deficiency" RELATED [OMIM:231530]
synonym: "HADHSC deficiency" RELATED [MESH:C535310]
synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [Orphanet:71212]
synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [Orphanet:71212]
synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [Orphanet:71212]
synonym: "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency" RELATED [MESH:C535310]
synonym: "M-SCHAD deficiency" RELATED [MESH:C535310]
synonym: "M/SCHAD" RELATED [GARD:0009870]
synonym: "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "SCHAD deficiency" EXACT [MESH:C535310, OMIM:231530, Orphanet:71212]
synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530]
xref: GARD:0009870 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="Orphanet:71212", source="ORDO:71212/attributed", source="ORDO:71212/ntbt"}
xref: MESH:C535310 {source="MONDO:equivalentTo"}
xref: Orphanet:71212 {source="MONDO:equivalentTo", source="GARD:0009870", source="OMIM:231530"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015624 {source="Orphanet:71212"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0016401 {source="Orphanet:71212"} ! energy metabolism disorder with epilepsy
is_a: MONDO:0017715 {source="Orphanet:71212"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency
is_a: MONDO:0019058 {source="Orphanet:71212"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C535310
property_value: exactMatch Orphanet:71212
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0009870"}

[Term]
id: MONDO:0009279
name: triple-A syndrome
def: "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." [Orphanet:869]
subset: gard_rare {source="GARD:0000457"}
subset: ordo_disease {source="Orphanet:869"}
synonym: "2A syndrome" EXACT [Orphanet:869]
synonym: "3A syndrome" EXACT [Orphanet:869]
synonym: "4A syndrome" EXACT [Orphanet:869]
synonym: "AAA" RELATED [GARD:0000457]
synonym: "AAA syndrome" EXACT [Orphanet:869]
synonym: "AAAS" RELATED [MONDO:Lexical, OMIM:231550]
synonym: "achalasia addisonianism alacrimia syndrome" RELATED [GARD:0000457]
synonym: "achalasia alacrima syndrome" RELATED [GARD:0000457]
synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [MONDO:Lexical, OMIM:231550, Orphanet:869]
synonym: "achalasia-addisonianism-alacrima syndrome; AAAS" RELATED [OMIM:231550]
synonym: "achalasia-addisonianism-alacrimia syndrome" EXACT [DOID:0050602]
synonym: "achalasia-alacrima syndrome" RELATED [OMIM:231550]
synonym: "ACTH-resistant adrenal insufficiency, achalasia and alacrima" RELATED [OMIM:231550]
synonym: "Addisonian achalasia syndrome" RELATED [GARD:0000457]
synonym: "Addisonian-achalasia syndrome" RELATED [OMIM:231550]
synonym: "adrenal insufficiency-achalasia-alacrima syndrome" EXACT [Orphanet:869]
synonym: "alacrima-achalasia-addisonianism" RELATED [OMIM:231550]
synonym: "alacrima-achalasia-adrenal insufficiency neurologic disorder" RELATED [OMIM:231550]
synonym: "Allgrove syndrome" EXACT [DOID:0050602, OMIM:231550, Orphanet:869]
synonym: "Double A syndrome" EXACT [Orphanet:869]
synonym: "glucocorticoid deficiency and achalasia" RELATED [OMIM:231550]
synonym: "hypoadrenalism with achalasia" RELATED [OMIM:231550]
synonym: "quaternary A syndrome" EXACT [Orphanet:869]
synonym: "triple A syndrome" RELATED [GARD:0000457]
synonym: "triple-a syndrome" EXACT [OMIM:231550]
xref: DOID:0050602 {source="MONDO:equivalentTo"}
xref: EFO:1001997 {source="MONDO:equivalentTo"}
xref: GARD:0000457 {source="MONDO:equivalentTo"}
xref: ICD10:E27.4 {source="ORDO:869/attributed", source="ORDO:869/ntbt", source="Orphanet:869"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536008 {source="ORDO:869/e", source="MONDO:equivalentTo", source="Orphanet:869", source="MONDO:ontobio"}
xref: NCIT:C131005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: OMIM:231550 {source="ORDO:869/e", source="MONDO:equivalentTo", source="Orphanet:869", source="DOID:0050602"}
xref: Orphanet:869 {source="MONDO:equivalentTo", source="OMIM:231550"}
xref: SCTID:45414006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.85"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 {source="DOID:0050602", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015129 {source="Orphanet:869", source="Orphanet:869/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015208 {source="Orphanet:869"} ! syndromic esophageal malformation
is_a: MONDO:0016132 {source="Orphanet:869"} ! rare hereditary disease with peripheral neuropathy
is_a: MONDO:0020194 {source="Orphanet:869"} ! congenital alacrima
property_value: closeMatch Orphanet:99777
property_value: exactMatch DOID:0050602
property_value: exactMatch http://identifiers.org/mesh/C536008
property_value: exactMatch http://identifiers.org/mesh/C536009
property_value: exactMatch http://identifiers.org/omim/231550
property_value: exactMatch http://identifiers.org/snomedct/45414006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931084
property_value: exactMatch NCIT:C131005
property_value: exactMatch Orphanet:869
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome xsd:anyURI {source="GARD:0000457"}

[Term]
id: MONDO:0009280
name: monosodium glutamate sensitivity
synonym: "Chinese restaurant syndrome" RELATED [OMIM:231630]
synonym: "monosodium glutamate sensitivity" EXACT [OMIM:231630]
xref: ICD9:989.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231630 {source="MONDO:equivalentTo"}
xref: SCTID:56344009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
xref: UMLS:C0008127 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231630"}
is_a: MONDO:0003847 {source="MESH:C562377/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562377
property_value: exactMatch http://identifiers.org/omim/231630
property_value: exactMatch http://identifiers.org/snomedct/56344009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008127

[Term]
id: MONDO:0009281
name: glutaryl-CoA dehydrogenase deficiency
def: "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." [Orphanet:25]
subset: ordo_disease {source="Orphanet:25"}
synonym: "Ga 1" RELATED [OMIM:231670]
synonym: "GA1" EXACT [Orphanet:25]
synonym: "GCDHD" EXACT [Orphanet:25]
synonym: "glutaric acidemia 1" RELATED [GARD:0006522, OMIM:231670]
synonym: "glutaric acidemia I" RELATED [OMIM:231670]
synonym: "glutaric acidemia I; GA1" RELATED [OMIM:231670]
synonym: "glutaric acidemia type 1" EXACT [MONDORULE:1, OMIM:231670, Orphanet:25]
synonym: "glutaric acidemia type I" RELATED [GARD:0006522]
synonym: "glutaric acidemia, type 1" RELATED []
synonym: "glutaric aciduria 1" RELATED [OMIM:231670]
synonym: "glutaric aciduria type 1" EXACT [Orphanet:25]
synonym: "glutaric aciduria type I" RELATED []
synonym: "glutaric aciduria, type 1" EXACT [NCIT:C99101]
synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT [OMIM:231670]
synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25]
xref: GARD:0006522 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.3 {source="MONDO:relatedTo", source="Orphanet:25", source="ORDO:25/ntbt", source="ORDO:25/inclusion"}
xref: MESH:C536833 {source="Orphanet:25", source="ORDO:25/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:231670 {source="Orphanet:25", source="ORDO:25/e", source="MONDO:equivalentTo"}
xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"}
xref: SCTID:76175005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268595 {source="Orphanet:25", source="NCBI:mim2gene_medline", source="ORDO:25/e", source="MONDO:equivalentTo", source="OMIM:231670", source="NCIT:C99101"}
is_a: MONDO:0000129 {source="DC-OMIM:231670", source="linkedlifedata"} ! glutaric aciduria (disease)
is_a: MONDO:0019058 {source="Orphanet:25"} ! neurometabolic disease
is_a: MONDO:0019213 {source="Orphanet:25"} ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C536833
property_value: exactMatch http://identifiers.org/omim/231670
property_value: exactMatch http://identifiers.org/snomedct/76175005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268595
property_value: exactMatch NCIT:C99101
property_value: exactMatch Orphanet:25

[Term]
id: MONDO:0009282
name: multiple acyl-CoA dehydrogenase deficiency
def: "Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." [Orphanet:26791]
comment: Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). {source="OMIM:231680"}
subset: ordo_disease {source="Orphanet:26791"}
synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358]
synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [DOID:0060358]
synonym: "EMA" RELATED [GARD:0006523]
synonym: "Etfa deficiency" RELATED [OMIM:231680]
synonym: "Etfb deficiency" RELATED [OMIM:231680]
synonym: "Etfdh deficiency" RELATED [OMIM:231680]
synonym: "ethylmalonic-Adipicaciduria" RELATED [OMIM:231680]
synonym: "Ga 2" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2A" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2B" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2C" RELATED [OMIM:231680]
synonym: "glutaric acidemia type 2" EXACT [DOID:0060358, Orphanet:26791]
synonym: "glutaric acidemia type II" RELATED [GARD:0006523]
synonym: "glutaric aciduria 2" RELATED [OMIM:231680]
synonym: "glutaric aciduria type 2" EXACT [DOID:0060358, Orphanet:26791]
synonym: "glutaric aciduria, type 2" EXACT [NCIT:C84907]
synonym: "MAD deficiency" EXACT [DOID:0060358, Orphanet:26791]
synonym: "MADD" EXACT [DOID:0060358, MONDO:Lexical, OMIM:231680, Orphanet:26791]
synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907]
synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:231680]
synonym: "multiple acyl-CoA dehydrogenase deficiency; MADD" RELATED [OMIM:231680]
xref: DOID:0060358 {source="MONDO:equivalentTo"}
xref: GARD:0006523 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="ORDO:26791/attributed", source="ORDO:26791/ntbt", source="Orphanet:26791"}
xref: ICD10:E71.313 {source="DOID:0060358"}
xref: NCIT:C84907 {source="DOID:0060358", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:231680 {source="ORDO:26791/e", source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791"}
xref: Orphanet:26791 {source="OMIM:231680", source="DOID:0060358", source="MONDO:equivalentTo"}
xref: UMLS:C0268596 {source="MEDGEN:kboom-pr98-c99", source="OMIM:231680", source="NCBI:mim2gene_medline", source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="NCIT:C84907"}
is_a: MONDO:0000129 {source="DC-OMIM:231680"} ! glutaric aciduria (disease)
is_a: MONDO:0016117 {source="Orphanet:26791"} ! muscular lipidosis
is_a: MONDO:0016328 {source="Orphanet:26791"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
is_a: MONDO:0017714 {source="Orphanet:26791"} ! acyl-CoA dehydrogenase deficiency
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://identifiers.org/mesh/D054069
property_value: closeMatch http://identifiers.org/snomedct/22886006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856401
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856403
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856405
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931346
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278154
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278155
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278156
property_value: exactMatch DOID:0060358
property_value: exactMatch http://identifiers.org/omim/231680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268596
property_value: exactMatch NCIT:C84907
property_value: exactMatch NCIT:C99102
property_value: exactMatch Orphanet:26791

[Term]
id: MONDO:0009283
name: glutaric acidemia type 3
def: "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." [Orphanet:35706]
subset: gard_rare {source="GARD:0012469"}
subset: ordo_disease {source="Orphanet:35706"}
synonym: "Ga 3" RELATED [OMIM:231690]
synonym: "GA III" RELATED [GARD:0012469]
synonym: "GA3" RELATED [OMIM:231690]
synonym: "glutaric acidemia type III" RELATED [GARD:0012469]
synonym: "glutaric aciduria (disease) caused by mutation in SUGCT" EXACT []
synonym: "glutaric aciduria 3" RELATED [OMIM:231690]
synonym: "glutaric aciduria III" RELATED [OMIM:231690]
synonym: "glutaric aciduria III; GA3" RELATED [OMIM:231690]
synonym: "glutaric aciduria type 3" EXACT [MONDORULE:1, OMIM:231690, Orphanet:35706]
synonym: "glutaric aciduria type III" RELATED [GARD:0012469]
synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706]
synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690]
synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:0012469 {source="MONDO:equivalentTo"}
xref: ICD10:E72.3 {source="MONDO:relatedTo", source="ORDO:35706/attributed", source="ORDO:35706/ntbt", source="Orphanet:35706"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562818 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231690 {source="ORDO:35706/e", source="MONDO:equivalentTo", source="Orphanet:35706"}
xref: Orphanet:35706 {source="OMIM:231690", source="MONDO:equivalentTo"}
xref: SCTID:238070003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0342873 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:231690", source="ORDO:35706/e", source="MONDO:equivalentTo", source="Orphanet:35706"}
is_a: MONDO:0000129 {source="DC-OMIM:231690", source="MONDO:Redundant"} ! glutaric aciduria (disease)
is_a: MONDO:0016401 {source="Orphanet:35706"} ! energy metabolism disorder with epilepsy
is_a: MONDO:0017753 {source="Orphanet:35706"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
property_value: exactMatch http://identifiers.org/mesh/C562818
property_value: exactMatch http://identifiers.org/omim/231690
property_value: exactMatch http://identifiers.org/snomedct/238070003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342873
property_value: exactMatch Orphanet:35706
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii xsd:anyURI {source="GARD:0012469"}

[Term]
id: MONDO:0009284
name: glutathione synthetase deficiency without 5-oxoprolinuria
subset: ordo_clinical_subtype {source="Orphanet:289849"}
synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900]
synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to; GSSDE" RELATED [OMIM:231900]
synonym: "GSSDE" RELATED [MONDO:Lexical, OMIM:231900]
xref: ICD10:D55.1 {source="ORDO:289849/attributed", source="ORDO:289849/ntbt", source="Orphanet:289849"}
xref: MESH:C565545 {source="MONDO:equivalentTo"}
xref: OMIM:231900 {source="MONDO:equivalentTo", source="ORDO:289849/e", source="Orphanet:289849"}
xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"}
xref: UMLS:C1856399 {source="OMIM:231900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289849"}
is_a: MONDO:0017909 {source="Orphanet:289849"} ! inherited glutathione synthetase deficiency
property_value: exactMatch http://identifiers.org/mesh/C565545
property_value: exactMatch http://identifiers.org/omim/231900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856399
property_value: exactMatch Orphanet:289849

[Term]
id: MONDO:0009285
name: gamma-glutamyl transpeptidase deficiency
def: "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." [Orphanet:33573]
subset: ordo_disease {source="Orphanet:33573"}
synonym: "gamma-glutamyltransferase deficiency" RELATED [OMIM:231950]
synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [OMIM:231950]
synonym: "GGT deficiency" RELATED [OMIM:231950]
synonym: "GGT1 deficiency" RELATED [GARD:0010099]
synonym: "glutathionuria" EXACT [OMIM:231950, Orphanet:33573]
synonym: "GTG deficiency" RELATED [OMIM:231950]
synonym: "inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutathione hydrolase activity disorder" EXACT []
synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glutathione hydrolase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:0010099 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="ORDO:33573/attributed", source="ORDO:33573/ntbt", source="Orphanet:33573"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536836 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:231950 {source="MONDO:equivalentTo", source="ORDO:33573/e", source="Orphanet:33573"}
xref: Orphanet:33573 {source="MONDO:equivalentTo", source="OMIM:231950"}
xref: SCTID:78586005 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
xref: UMLS:C0268524 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231950", source="Orphanet:33573"}
is_a: MONDO:0019241 {source="Orphanet:33573", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C536836
property_value: exactMatch http://identifiers.org/omim/231950
property_value: exactMatch http://identifiers.org/snomedct/78586005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268524
property_value: exactMatch Orphanet:33573

[Term]
id: MONDO:0009286
name: gluteal muscles, absence of
subset: gard_rare
synonym: "absence of gluteal muscle" RELATED [GARD:0008518]
synonym: "congenital absence of gluteal muscles" RELATED [GARD:0008518]
synonym: "gluteal muscle, absence of" RELATED [GARD:0008518]
synonym: "gluteal muscles, absence of" EXACT [OMIM:231970]
xref: GARD:0008518 {source="MONDO:equivalentTo"}
xref: MESH:C535561 {source="MONDO:equivalentTo"}
xref: OMIM:231970 {source="GARD:0008518", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856398
property_value: exactMatch http://identifiers.org/mesh/C535561
property_value: exactMatch http://identifiers.org/omim/231970
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle xsd:anyURI {source="GARD:0008518"}

[Term]
id: MONDO:0009287
name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA
def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." [Orphanet:79258]
subset: ordo_clinical_subtype {source="Orphanet:79258"}
synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258]
synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glucose-6-phosphatase deficiency" RELATED [OMIM:232200]
synonym: "glucose-6-phosphatase deficiency glycogen storage disease" RELATED [GARD:0007864]
synonym: "glycogen storage disease 1" RELATED [OMIM:232200]
synonym: "glycogen storage disease 1A" RELATED [GARD:0007864]
synonym: "glycogen storage disease caused by mutation in G6PC" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to G6P deficiency type Ia" EXACT [Orphanet:79258]
synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical, OMIM:232200]
synonym: "glycogen storage disease Ia; GSD1A" RELATED [OMIM:232200]
synonym: "glycogen storage disease type 1a" EXACT [Orphanet:79258]
synonym: "glycogen storage disease type Ia" EXACT [MONDORULE:5, OMIM:232200]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1a" EXACT [Orphanet:79258]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type Ia" EXACT [Orphanet:79258]
synonym: "glycogenosis type Ia" EXACT [Orphanet:79258]
synonym: "GSD due to G6P deficiency type 1a" EXACT [Orphanet:79258]
synonym: "GSD due to G6P deficiency type Ia" EXACT [Orphanet:79258]
synonym: "GSD Ia" RELATED [OMIM:232200]
synonym: "GSD type 1a" EXACT [Orphanet:79258]
synonym: "GSD1" RELATED [GARD:0007864]
synonym: "GSD1A" RELATED [MONDO:Lexical, OMIM:232200]
synonym: "GSDIa" EXACT [Orphanet:79258]
synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200]
synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200]
synonym: "Von Gierke disease" RELATED [OMIM:232200]
xref: GARD:0007864 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:79258/attributed", source="ORDO:79258/ntbt", source="Orphanet:79258"}
xref: OMIM:232200 {source="MONDO:equivalentTo", source="ORDO:79258/e", source="Orphanet:79258"}
xref: Orphanet:79258 {source="MONDO:equivalentTo", source="OMIM:232200"}
xref: SCTID:444707001 {source="MONDO:kboom-pr-0.90/0.76/0.43", source="MONDO:equivalentTo"}
xref: UMLS:C2919796 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:79258"}
xref: UMLS:CN069618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN205860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002413 {source="MONDOLEX:0009287", source="Orphanet:79258", source="linkedlifedata"} ! glycogen storage disease I
property_value: exactMatch http://identifiers.org/omim/232200
property_value: exactMatch http://identifiers.org/snomedct/444707001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205860
property_value: exactMatch Orphanet:79258

[Term]
id: MONDO:0009288
name: glycogen storage disease due to glucose-6-phosphatase deficiency type IB
def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." [Orphanet:79259]
comment: Editor note: TODO decide whether to merge Ic
subset: ordo_clinical_subtype {source="Orphanet:79259"}
synonym: "G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "G6P translocase deficiency" EXACT [Orphanet:79259]
synonym: "G6PT deficiency" EXACT [Orphanet:79259]
synonym: "glucose-6-phosphate Transport defect" RELATED [OMIM:232220]
synonym: "glycogen storage disease due to G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "glycogen storage disease Ib" RELATED [MONDO:Lexical, OMIM:232220]
synonym: "glycogen storage disease Ib; GSD1B" RELATED [OMIM:232220]
synonym: "glycogen storage disease Ic" EXACT [OMIM:232240]
synonym: "glycogen storage disease Ic; GSD1C" RELATED [OMIM:232240]
synonym: "glycogen storage disease Id" RELATED [OMIM:232240]
synonym: "glycogen storage disease type 1b" EXACT [Orphanet:79259]
synonym: "glycogen storage disease type I non-a" EXACT [NCIT:C122661]
synonym: "glycogen storage disease type IB" EXACT [MONDORULE:5, OMIM:232220, Orphanet:79259]
synonym: "glycogen storage disease type Ic" EXACT [MONDORULE:5, OMIM:232240]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1b" EXACT [Orphanet:79259]
synonym: "glycogenosis due to glucose-6-phosphatase transport defect type IB" EXACT [Orphanet:79259]
synonym: "glycogenosis type 1b" EXACT [Orphanet:79259]
synonym: "glycogenosis type IB" EXACT [Orphanet:79259]
synonym: "GSD due to G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "GSD due to G6PT deficiency" EXACT [Orphanet:79259]
synonym: "GSD Ib" RELATED [OMIM:232220]
synonym: "GSD Ic" RELATED [OMIM:232240]
synonym: "GSD type 1 non a" EXACT [Orphanet:79259]
synonym: "GSD type 1b" EXACT [Orphanet:79259]
synonym: "GSD type IB" EXACT [Orphanet:79259]
synonym: "GSD1B" RELATED [MONDO:Lexical, OMIM:232220]
synonym: "Gsd1C" RELATED [OMIM:232240]
synonym: "GSDIb" EXACT [Orphanet:79259]
xref: GARD:0002515 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:79259", source="ORDO:79259/attributed", source="ORDO:79259/ntbt"}
xref: MESH:C562594 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122661 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:232220 {source="Orphanet:79259", source="MONDO:equivalentTo", source="ORDO:79259/e"}
xref: OMIM:232240 {source="Orphanet:79259", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="ORDO:79259/btnt"}
xref: Orphanet:79259 {source="MONDO:subClassOf", source="OMIM:232240", source="MONDO:equivalentTo", source="OMIM:232220", source="MONDO:directSiblingOf"}
xref: SCTID:237965005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: SCTID:30102006 {source="MONDO:kboom-pr-1.00/0.80/9.48", source="MONDO:equivalentTo"}
xref: UMLS:C0342749 {source="NCBI:mim2gene_medline", source="OMIM:232240", source="MONDO:equivalentTo"}
is_a: MONDO:0018032 {source="Orphanet:79259"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0023258 ! glycogen storage disease type 1 due to SLC37A4 mutation
is_a: MONDO:0044975 ! disease of transporter activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268146
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342750
property_value: exactMatch http://identifiers.org/mesh/C562594
property_value: exactMatch http://identifiers.org/omim/232220
property_value: exactMatch http://identifiers.org/omim/232240
property_value: exactMatch http://identifiers.org/snomedct/237965005
property_value: exactMatch http://identifiers.org/snomedct/30102006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342749
property_value: exactMatch NCIT:C122661
property_value: exactMatch Orphanet:79259

[Term]
id: MONDO:0009289
name: obsolete glycogen storage disease IC
comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
is_obsolete: true
replaced_by: MONDO:0009288

[Term]
id: MONDO:0009290
name: glycogen storage disease II
def: "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." [Orphanet:365]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:365"}
synonym: "acid maltase deficiency" EXACT [CSP2005:1849-3836, DOID:2752, OMIM:232300]
synonym: "acid maltase deficiency disease" RELATED [GARD:0005714]
synonym: "Aglucosidase alfa" RELATED [GARD:0005714]
synonym: "Alpha-1,4-glucosidase acid deficiency" EXACT [Orphanet:365]
synonym: "Alpha-1,4-glucosidase deficiency" RELATED [OMIM:232300]
synonym: "Cardiomegalia Glycogenica diffusa" RELATED [OMIM:232300]
synonym: "deficiency of alpha-glucosidase" RELATED [GARD:0005714]
synonym: "deficiency of glucoamylase" EXACT [DOID:2752]
synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714]
synonym: "deficiency of maltase" EXACT [DOID:2752]
synonym: "GAA deficiency" RELATED [OMIM:232300]
synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalized glycogenosis" EXACT [DOID:2752]
synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503]
synonym: "glycogen storage disease 2" RELATED [OMIM:232300]
synonym: "glycogen storage disease caused by mutation in GAA" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [Orphanet:365]
synonym: "glycogen storage disease II" EXACT [MONDO:Lexical, OMIM:232300]
synonym: "glycogen storage disease II; GSD2" RELATED [OMIM:232300]
synonym: "glycogen storage disease type 2" EXACT [MONDORULE:1, OMIM:232300, Orphanet:365]
synonym: "glycogen storage disease type II" EXACT [DOID:2752, MONDORULE:3, Orphanet:365]
synonym: "glycogen storage disease, type II" EXACT [DOID:2752]
synonym: "glycogenosis due to acid maltase deficiency" EXACT [Orphanet:365]
synonym: "glycogenosis type 2" EXACT [Orphanet:365]
synonym: "glycogenosis type II" EXACT [Orphanet:365]
synonym: "glycogenosis, generalized, Cardiac form" RELATED [OMIM:232300]
synonym: "glycogenosis, type 2" EXACT [DOID:2752]
synonym: "GSD 2" RELATED [OMIM:232300]
synonym: "GSD due to acid maltase deficiency" EXACT [Orphanet:365]
synonym: "GSD II" RELATED [GARD:0005714]
synonym: "GSD type 2" EXACT [Orphanet:365]
synonym: "GSD type II" EXACT [Orphanet:365]
synonym: "GSD2" RELATED [MONDO:Lexical, OMIM:232300]
synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [DOID:2752]
synonym: "Pompe disease" EXACT [OMIM:232300, Orphanet:365]
synonym: "Pompe's disease" EXACT [DOID:2752]
xref: DOID:2752 {source="MONDO:equivalentTo"}
xref: GARD:0002503 {source="MONDO:equivalentTo"}
xref: GARD:0005714 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:365/ntbt", source="ORDO:365/inclusion", source="Orphanet:365"}
xref: ICD10:E74.02 {source="DOID:2752"}
xref: MedDRA:10053185 {source="ORDO:365/e", source="Orphanet:365"}
xref: NCIT:C84734 {source="DOID:2752", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:232300 {source="DOID:2752", source="MONDO:equivalentTo", source="ORDO:365/e", source="Orphanet:365"}
xref: Orphanet:365 {source="MONDO:equivalentTo", source="OMIM:232300"}
xref: SCTID:274864009 {source="MONDO:equivalentTo"}
xref: UMLS:C0017921 {source="NCIT:C84734", source="DOID:2752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:232300", source="ORDO:365/e", source="Orphanet:365"}
xref: UMLS:C1968741 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="Orphanet:365"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:365"} ! muscular glycogenosis
is_a: MONDO:0016325 {source="Orphanet:365"} ! glycogen storage disease with hypertrophic cardiomyopathy
is_a: MONDO:0016326 {source="MONDO:Redundant", source="Orphanet:365"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0016341 {source="Orphanet:365"} ! lysosomal disease with restrictive cardiomyopathy
is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/124454007
property_value: closeMatch http://identifiers.org/snomedct/124462004
property_value: closeMatch http://identifiers.org/snomedct/190741002
property_value: closeMatch http://identifiers.org/snomedct/237967002
property_value: closeMatch http://identifiers.org/snomedct/237968007
property_value: closeMatch http://identifiers.org/snomedct/267424007
property_value: closeMatch http://identifiers.org/snomedct/76219003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931347
property_value: exactMatch DOID:2752
property_value: exactMatch http://identifiers.org/meddra/10053185
property_value: exactMatch http://identifiers.org/mesh/D006009
property_value: exactMatch http://identifiers.org/omim/232300
property_value: exactMatch http://identifiers.org/snomedct/274864009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968741
property_value: exactMatch NCIT:C84734
property_value: exactMatch Orphanet:365

[Term]
id: MONDO:0009291
name: glycogen storage disease III
def: "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." [Orphanet:366]
subset: ordo_disease {source="Orphanet:366"}
synonym: "Agl deficiency" RELATED [OMIM:232400]
synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amylo 1,6 glucosidase deficiency" EXACT [CSP2005:1849-3893, DOID:2748]
synonym: "amylo-1,6-glucosidase deficiency" EXACT [Orphanet:366]
synonym: "Cori disease" EXACT [Orphanet:366]
synonym: "Cori-Forbes disease" EXACT [Orphanet:366]
synonym: "deficiency of debranching enzyme" EXACT [DOID:2748]
synonym: "deficiency of dextrin" EXACT [DOID:2748]
synonym: "Forbes disease" EXACT [OMIM:232400, Orphanet:366]
synonym: "GDE deficiency" EXACT [Orphanet:366]
synonym: "Gde deficiency" RELATED [OMIM:232400]
synonym: "glycogen Debrancher deficiency" RELATED [OMIM:232400]
synonym: "glycogen storage disease 3" RELATED [OMIM:232400]
synonym: "glycogen storage disease caused by mutation in AGL" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [Orphanet:366]
synonym: "glycogen storage disease III" EXACT [MONDO:Lexical, OMIM:232400]
synonym: "glycogen storage disease III; GSD3" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIIa" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIIb" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIIC" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIID" RELATED [OMIM:232400]
synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, OMIM:232400, Orphanet:366]
synonym: "glycogen storage disease type III" EXACT [DOID:2748, MONDORULE:3, Orphanet:366]
synonym: "glycogen storage disease, type III" EXACT [DOID:2748]
synonym: "glycogenosis due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366]
synonym: "glycogenosis type 3" EXACT [Orphanet:366]
synonym: "glycogenosis type III" EXACT [Orphanet:366]
synonym: "GSD due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366]
synonym: "GSD type 3" EXACT [Orphanet:366]
synonym: "GSD3" RELATED [MONDO:Lexical, OMIM:232400]
synonym: "GSDIII" EXACT [Orphanet:366]
synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366]
xref: DOID:2748 {source="MONDO:equivalentTo"}
xref: GARD:0009442 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:366/inclusion", source="ORDO:366/ntbt", source="Orphanet:366"}
xref: ICD10:E74.03 {source="DOID:2748"}
xref: MedDRA:10053250 {source="ORDO:366/e", source="Orphanet:366"}
xref: NCIT:C84736 {source="MONDO:kboom-pr-1.00/0.91/27.12", source="MONDO:equivalentTo", source="DOID:2748"}
xref: OMIM:232400 {source="MONDO:equivalentTo", source="DOID:2748", source="ORDO:366/e", source="Orphanet:366"}
xref: Orphanet:366 {source="MONDO:equivalentTo", source="OMIM:232400"}
xref: SCTID:66937008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.82/0.10", source="DOID:2748"}
xref: UMLS:C0017922 {source="NCBI:mim2gene_medline", source="NCIT:C84736", source="MONDO:equivalentTo", source="OMIM:232400", source="DOID:2748", source="ORDO:366/e", source="Orphanet:366"}
xref: UMLS:CN204781 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="Orphanet:366", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
is_a: MONDO:0016325 {source="Orphanet:366"} ! glycogen storage disease with hypertrophic cardiomyopathy
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
property_value: closeMatch http://identifiers.org/mesh/D006010
property_value: closeMatch http://identifiers.org/snomedct/124474000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968739
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968740
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968742
property_value: exactMatch DOID:2748
property_value: exactMatch http://identifiers.org/meddra/10053250
property_value: exactMatch http://identifiers.org/omim/232400
property_value: exactMatch http://identifiers.org/snomedct/66937008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204781
property_value: exactMatch NCIT:C84736
property_value: exactMatch Orphanet:366

[Term]
id: MONDO:0009292
name: glycogen storage disease due to glycogen branching enzyme deficiency
def: "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms)." [Orphanet:367]
subset: ordo_disease {source="Orphanet:367"}
synonym: "amylopectinosis" EXACT [DOID:2750, MTHICD9_2006:271.0, OMIM:232500, Orphanet:367]
synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367]
synonym: "Andersen's disease" EXACT []
synonym: "brancher deficiency" RELATED [OMIM:232500]
synonym: "brancher deficiency glycogenosis" EXACT [CSP2005:1849-3950, DOID:2750]
synonym: "branching-transferase deficiency glycogenosis" EXACT [DOID:2750]
synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [OMIM:232500]
synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [DOID:2750]
synonym: "Gbe1 deficiency" RELATED [OMIM:232500]
synonym: "GBE1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glycogen branching enzyme deficiency" RELATED [OMIM:232500]
synonym: "glycogen storage disease 4" RELATED [OMIM:232500]
synonym: "glycogen storage disease caused by mutation in GBE1" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical, OMIM:232500]
synonym: "glycogen storage disease IV; GSD4" RELATED [OMIM:232500]
synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, OMIM:232500, Orphanet:367]
synonym: "glycogen storage disease type IV" EXACT [DOID:2750, MONDORULE:3, Orphanet:367]
synonym: "glycogen storage disease, type IV" EXACT [DOID:2750]
synonym: "glycogenosis 4" RELATED [OMIM:232500]
synonym: "glycogenosis due to glycogen branching enzyme deficiency" EXACT [Orphanet:367]
synonym: "glycogenosis type 4" EXACT [Orphanet:367]
synonym: "glycogenosis type IV" EXACT [Orphanet:367]
synonym: "GSD 4" RELATED [OMIM:232500]
synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [Orphanet:367]
synonym: "GSD IV" RELATED [GARD:0002520]
synonym: "GSD IV, classic hepatic" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, adult, with isolated myopathy" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, childhood" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, congenital" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [OMIM:232500]
synonym: "GSD IV, nonprogressive hepatic" RELATED [OMIM:232500]
synonym: "GSD type 4" EXACT [Orphanet:367]
synonym: "GSD type IV" EXACT [Orphanet:367]
synonym: "GSD4" RELATED [MONDO:Lexical, OMIM:232500]
xref: DOID:2750 {source="MONDO:equivalentTo"}
xref: GARD:0002520 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:367", source="ORDO:367/inclusion", source="ORDO:367/ntbt"}
xref: ICD10:E74.09 {source="DOID:2750"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053249 {source="Orphanet:367", source="ORDO:367/e"}
xref: NCIT:C84737 {source="DOID:2750", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:232500 {source="Orphanet:367", source="DOID:2750", source="MONDO:equivalentTo", source="ORDO:367/btnt"}
xref: Orphanet:367 {source="MONDO:equivalentTo", source="OMIM:232500"}
xref: SCTID:124267007 {source="DOID:2750", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0017923 {source="Orphanet:367", source="DOID:2750", source="NCIT:C84737", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:232500", source="ORDO:367/e"}
xref: UMLS:CN204783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="MONDO:Redundant", source="NCIT:C84737", source="Orphanet:367"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:367"} ! muscular glycogenosis
is_a: MONDO:0016333 {source="Orphanet:367"} ! familial dilated cardiomyopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://identifiers.org/mesh/D006011
property_value: closeMatch http://identifiers.org/snomedct/11179002
property_value: closeMatch http://identifiers.org/snomedct/190742009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856301
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856302
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856306
property_value: exactMatch DOID:2750
property_value: exactMatch http://identifiers.org/meddra/10053249
property_value: exactMatch http://identifiers.org/omim/232500
property_value: exactMatch http://identifiers.org/snomedct/124267007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204783
property_value: exactMatch NCIT:C84737
property_value: exactMatch Orphanet:367

[Term]
id: MONDO:0009293
name: glycogen storage disease V
def: "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance." [Orphanet:368]
subset: ordo_disease {source="Orphanet:368"}
synonym: "glycogen storage disease 5" RELATED [OMIM:232600]
synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [Orphanet:368]
synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, OMIM:232600, Orphanet:368]
synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, Orphanet:368]
synonym: "glycogen storage disease V" EXACT [MONDO:Lexical, OMIM:232600]
synonym: "glycogen storage disease V; GSD5" RELATED [OMIM:232600]
synonym: "glycogen storage disease, type V" EXACT [DOID:2746]
synonym: "glycogenosis due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368]
synonym: "glycogenosis type 5" EXACT [Orphanet:368]
synonym: "glycogenosis type V" EXACT [Orphanet:368]
synonym: "GSD 5" RELATED [OMIM:232600]
synonym: "GSD due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368]
synonym: "GSD type 5" EXACT [Orphanet:368]
synonym: "GSD type V" EXACT [Orphanet:368]
synonym: "GSD5" RELATED [MONDO:Lexical, OMIM:232600]
synonym: "McArdle disease" EXACT [Orphanet:368]
synonym: "Mcardle disease" RELATED [OMIM:232600]
synonym: "McArdle type glycogen storage disease" RELATED [GARD:0006528]
synonym: "McArdle's disease" EXACT [DOID:2746, MTHICD9_2006:271.0]
synonym: "muscle glycogen phosphorylase deficiency" RELATED [OMIM:232600]
synonym: "myophosphorylase deficiency" EXACT [CSP2005:1849-4007, DOID:2746, OMIM:232600, Orphanet:368]
synonym: "Pygm deficiency" RELATED [OMIM:232600]
synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:2746 {source="MONDO:equivalentTo"}
xref: GARD:0006528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:368", source="ORDO:368/inclusion", source="ORDO:368/ntbt"}
xref: ICD10:E74.04 {source="DOID:2746"}
xref: MedDRA:10018462 {source="Orphanet:368", source="ORDO:368/e"}
xref: MESH:D006012 {source="Orphanet:368", source="MONDO:equivalentTo", source="DOID:2746", source="MONDO:ontobio", source="ORDO:368/e"}
xref: NCIT:C84738 {source="MONDO:equivalentTo", source="DOID:2746", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="DOID:2746", source="ORDO:368/e"}
xref: Orphanet:368 {source="MONDO:equivalentTo", source="OMIM:232600"}
xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017924 {source="Orphanet:368", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84738", source="DOID:2746", source="OMIM:232600", source="ORDO:368/e"}
is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="Orphanet:368", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:368"} ! muscular glycogenosis
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:2746
property_value: exactMatch http://identifiers.org/meddra/10018462
property_value: exactMatch http://identifiers.org/mesh/C537276
property_value: exactMatch http://identifiers.org/mesh/D006012
property_value: exactMatch http://identifiers.org/omim/232600
property_value: exactMatch http://identifiers.org/snomedct/55912009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936916
property_value: exactMatch NCIT:C84738
property_value: exactMatch Orphanet:368

[Term]
id: MONDO:0009294
name: glycogen storage disease VI
def: "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." [Orphanet:369]
subset: ordo_disease {source="Orphanet:369"}
synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700]
synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [Orphanet:369]
synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, OMIM:232700, Orphanet:369]
synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, Orphanet:369]
synonym: "glycogen storage disease VI" EXACT [MONDO:Lexical, OMIM:232700]
synonym: "glycogen storage disease VI; GSD6" RELATED [OMIM:232700]
synonym: "glycogenosis due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "glycogenosis type 6" EXACT [Orphanet:369]
synonym: "glycogenosis type VI" EXACT [Orphanet:369]
synonym: "GSD 6" RELATED [OMIM:232700]
synonym: "GSD due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "GSD type 6" EXACT [Orphanet:369]
synonym: "GSD type VI" EXACT [Orphanet:369]
synonym: "GSD6" RELATED [MONDO:Lexical, OMIM:232700]
synonym: "hepatic glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "hepatic phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [CSP2005:1849-4064, DOID:2754]
synonym: "hers disease" EXACT [OMIM:232700, Orphanet:369]
synonym: "hers' disease" EXACT [DOID:2754]
synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700]
synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:2754 {source="MONDO:equivalentTo"}
xref: GARD:0006529 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:369", source="ORDO:369/inclusion", source="ORDO:369/ntbt"}
xref: ICD10:E74.09 {source="DOID:2754"}
xref: MedDRA:10053240 {source="Orphanet:369", source="ORDO:369/e"}
xref: MESH:D006013 {source="DOID:2754", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126875 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:232700 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="ORDO:369/e"}
xref: Orphanet:369 {source="DOID:2754", source="MONDO:equivalentTo", source="OMIM:232700"}
xref: SCTID:29291001 {source="DOID:2754", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.89"}
xref: UMLS:C0017925 {source="Orphanet:369", source="NCBI:mim2gene_medline", source="DOID:2754", source="MONDO:equivalentTo", source="NCIT:C126875", source="ORDO:369/e"}
is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="Orphanet:369", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/237971004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1419156
property_value: exactMatch DOID:2754
property_value: exactMatch http://identifiers.org/meddra/10053240
property_value: exactMatch http://identifiers.org/mesh/D006013
property_value: exactMatch http://identifiers.org/omim/232700
property_value: exactMatch http://identifiers.org/snomedct/29291001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017925
property_value: exactMatch NCIT:C126875
property_value: exactMatch Orphanet:369

[Term]
id: MONDO:0009295
name: glycogen storage disease VII
def: "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." [Orphanet:371]
subset: ordo_disease {source="Orphanet:371"}
synonym: "glycogen storage disease 7" RELATED [OMIM:232800]
synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [Orphanet:371]
synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, OMIM:232800, Orphanet:371]
synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, Orphanet:371]
synonym: "glycogen storage disease VII" EXACT [MONDO:Lexical, OMIM:232800]
synonym: "glycogen storage disease VII; GSD7" RELATED [OMIM:232800]
synonym: "glycogen storage disease, type VII" EXACT [DOID:11721]
synonym: "glycogenosis due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371]
synonym: "glycogenosis type 7" EXACT [Orphanet:371]
synonym: "glycogenosis type VII" EXACT [Orphanet:371]
synonym: "GSD 7" RELATED [OMIM:232800]
synonym: "GSD due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371]
synonym: "GSD type 7" EXACT [Orphanet:371]
synonym: "GSD type VII" EXACT [Orphanet:371]
synonym: "GSD7" RELATED [MONDO:Lexical, OMIM:232800]
synonym: "GSDVII" EXACT [NCIT:C118437]
synonym: "muscle phosphofructokinase deficiency" RELATED [OMIM:232800]
synonym: "Pfkm deficiency" RELATED [OMIM:232800]
synonym: "PFKM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437]
synonym: "phosphofructokinase myopathy" EXACT [CSP2005:1849-4121, DOID:11721]
synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371]
xref: DOID:11721 {source="MONDO:equivalentTo"}
xref: GARD:0005686 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:371/ntbt", source="Orphanet:371", source="ORDO:371/inclusion"}
xref: ICD10:E74.09 {source="DOID:11721"}
xref: MedDRA:10053241 {source="ORDO:371/e", source="Orphanet:371"}
xref: MESH:D006014 {source="DOID:11721", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118437 {source="DOID:11721", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:232800 {source="DOID:11721", source="MONDO:equivalentTo", source="ORDO:371/e", source="Orphanet:371"}
xref: Orphanet:371 {source="MONDO:equivalentTo", source="OMIM:232800"}
xref: SCTID:89597008 {source="DOID:11721", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017926 {source="DOID:11721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:371/e", source="Orphanet:371", source="NCIT:C118437", source="OMIM:232800"}
is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="Orphanet:371", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0016118 {source="Orphanet:371"} ! muscular glycogenosis
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0020106 {source="Orphanet:371"} ! hemolytic anemia due to a disorder of glycolytic enzymes
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/234406005
property_value: exactMatch DOID:11721
property_value: exactMatch http://identifiers.org/meddra/10053241
property_value: exactMatch http://identifiers.org/mesh/D006014
property_value: exactMatch http://identifiers.org/omim/232800
property_value: exactMatch http://identifiers.org/snomedct/89597008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017926
property_value: exactMatch NCIT:C118437
property_value: exactMatch Orphanet:371

[Term]
id: MONDO:0009296
name: glycoprotein storage disease
synonym: "glycoprotein storage disease" EXACT [OMIM:232900]
synonym: "glycoprotein storage disorder" EXACT []
xref: MESH:C565538 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:232900 {source="MONDO:equivalentTo"}
xref: SCTID:7810004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268220 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C1856275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:232900"}
is_a: MONDO:0002561 {source="linkedlifedata"} ! lysosomal storage disease
property_value: exactMatch http://identifiers.org/mesh/C565538
property_value: exactMatch http://identifiers.org/omim/232900
property_value: exactMatch http://identifiers.org/snomedct/7810004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856275

[Term]
id: MONDO:0009297
name: familial renal glucosuria
def: "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." [Orphanet:69076]
subset: gard_rare {source="GARD:0007548"}
subset: ordo_disease {source="Orphanet:69076"}
synonym: "familial renal glucosuria" EXACT [Orphanet:69076]
synonym: "glycosuria, renal" RELATED [OMIM:233100]
synonym: "GLYS" RELATED [MONDO:Lexical, OMIM:233100]
synonym: "Glys1" RELATED [OMIM:233100]
synonym: "renal diabetes" EXACT [DOID:9432, MTHICD9_2006:271.4]
synonym: "renal glucosuria" RELATED [GARD:0007548, MONDO:Lexical, OMIM:233100]
synonym: "renal glucosuria; GLYS" RELATED [OMIM:233100]
synonym: "renal glycosuria" RELATED [DOID:9432, GARD:0007548]
synonym: "SGLT2 deficiency" EXACT [Orphanet:69076]
xref: COHD:193170 {source="MONDO:equivalentTo"}
xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"}
xref: EFO:1001151 {source="MONDO:equivalentTo"}
xref: GARD:0007548 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="ORDO:69076/ntbt", source="Orphanet:69076", source="DOID:9432", source="ORDO:69076/inclusion"}
xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="i2s", source="DOID:9432"}
xref: MedDRA:10038457 {source="EFO:1001151"}
xref: MESH:D006030 {source="EFO:1001151", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9432"}
xref: OMIM:233100 {source="ORDO:69076/e", source="MONDO:equivalentTo", source="Orphanet:69076", source="DOID:9432"}
xref: Orphanet:69076 {source="MONDO:equivalentTo", source="OMIM:233100"}
xref: SCTID:267430007 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0017980 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233100", source="Orphanet:69076", source="DOID:9432"}
xref: UMLS:C3245525 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:69076"}
is_a: MONDO:0006510 {source="DOID:9432", source="MESH:D006030"} ! renal tubular transport disease
is_a: MONDO:0019226 {source="Orphanet:69076"} ! glucose transport disorder
is_a: MONDO:0019743 {source="Orphanet:69076"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/meddra/10038457
property_value: closeMatch http://identifiers.org/snomedct/154737003
property_value: closeMatch http://identifiers.org/snomedct/190759004
property_value: closeMatch http://identifiers.org/snomedct/1913007
property_value: closeMatch http://identifiers.org/snomedct/236367002
property_value: closeMatch http://identifiers.org/snomedct/367418000
property_value: exactMatch DOID:9432
property_value: exactMatch http://identifiers.org/mesh/D006030
property_value: exactMatch http://identifiers.org/omim/233100
property_value: exactMatch http://identifiers.org/snomedct/267430007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3245525
property_value: exactMatch Orphanet:69076
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria xsd:anyURI {source="GARD:0007548"}

[Term]
id: MONDO:0009298
name: GOMBO syndrome
synonym: "GOMBO syndrome" EXACT [OMIM:233270]
synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" RELATED [OMIM:233270]
xref: GARD:0002537 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537284 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233270 {source="MONDO:equivalentTo"}
xref: UMLS:C1856274 {source="OMIM:233270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537284
property_value: exactMatch http://identifiers.org/omim/233270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856274

[Term]
id: MONDO:0009299
name: 46 XX gonadal dysgenesis
def: "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." [Orphanet:243]
subset: ordo_malformation_syndrome {source="Orphanet:243"}
synonym: "46,XX complete gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "46,XX gonadal dysgenesis" EXACT [NCIT:C120197]
synonym: "46,XX ovarian dysgenesis" EXACT [Orphanet:243]
synonym: "46,XX pure gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "follicular stimulating hormone-resistant ovaries" EXACT [Orphanet:243]
synonym: "FSH-RO" EXACT [Orphanet:243]
synonym: "hypergonadotropic ovarian dysgenesis" EXACT [Orphanet:243]
synonym: "ovarian dysgenesis" RELATED [OMIMPS:233300]
synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300]
synonym: "XX-GD" EXACT [Orphanet:243]
xref: DC:0000000 {source="MONDO:equivalentTo"}
xref: DOID:14450 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.1 {source="ORDO:243/specific", source="ORDO:243/e", source="Orphanet:243"}
xref: MESH:D023961 {source="DOID:14450", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:243/e", source="Orphanet:243"}
xref: NCIT:C120197 {source="DOID:14450", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:233300 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="DOID:14450", source="MONDO:equivalentTo", source="OMIM:233300"}
xref: SCTID:95198001 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0949595 {source="NCBI:mim2gene_medline", source="DOID:14450", source="MONDO:equivalentTo", source="NCIT:C120197", source="OMIM:233300", source="ORDO:243/e", source="Orphanet:243"}
is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017961 {source="Orphanet:243"} ! 46,XX disorder of gonadal development
is_a: MONDO:0018402 {source="Orphanet:243"} ! female infertility due to gonadal dysgenesis
is_a: MONDO:0019852 {source="Orphanet:243"} ! inherited primary ovarian failure
is_a: MONDO:0020038 {source="Orphanet:243"} ! gonadal dysgenesis of gynecological interest
property_value: exactMatch DOID:14450
property_value: exactMatch http://identifiers.org/mesh/D023961
property_value: exactMatch http://identifiers.org/snomedct/95198001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949595
property_value: exactMatch NCIT:C120197
property_value: exactMatch Orphanet:243

[Term]
id: MONDO:0009300
name: Perrault syndrome 1
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "gonadal dysgenesis, 20 type, with deafness" RELATED [OMIM:233400]
synonym: "HSD17B4 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ovarian dysgenesis with sensorineural deafness" RELATED [OMIM:233400]
synonym: "Perrault syndrome 1" EXACT [MONDO:Lexical, OMIM:233400]
synonym: "Perrault syndrome 1; PRLTS1" RELATED [OMIM:233400]
synonym: "Perrault syndrome caused by mutation in HSD17B4" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 1" EXACT [MONDORULE:1, OMIM:233400]
synonym: "PRLTS1" RELATED [MONDO:Lexical, OMIM:233400]
xref: OMIM:233400 {source="MONDO:equivalentTo"}
is_a: MONDO:0017312 {source="DC-OMIM:233400", source="MONDO:Redundant", source="OMIM:233400"} ! Perrault syndrome
property_value: exactMatch http://identifiers.org/omim/233400

[Term]
id: MONDO:0009301
name: 46,XY sex reversal 7
synonym: "46,XY gonadal dysgenesis, partial or complete, Dhh-related" RELATED [OMIM:233420]
synonym: "46,XY sex reversal 7" EXACT [MONDO:Lexical, OMIM:233420]
synonym: "46,XY SEX reversal 7; SRXY7" RELATED [OMIM:233420]
synonym: "46,XY Sex reversal type 7" EXACT [MONDORULE:1, OMIM:233420]
synonym: "46,XY Sex reversal, partial or complete, Dhh-related" RELATED [OMIM:233420]
synonym: "gonadal dysgenesis, XY, Male-limited" RELATED [OMIM:233420]
synonym: "SRXY7" RELATED [MONDO:Lexical, OMIM:233420]
xref: MESH:C565537 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233420 {source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MESH:C565537", source="MONDOLEX:0009301", source="OMIM:233420", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856273
property_value: exactMatch http://identifiers.org/mesh/C565537
property_value: exactMatch http://identifiers.org/omim/233420

[Term]
id: MONDO:0009302
name: XY type gonadal dysgenesis-associated anomalies syndrome
def: "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." [Orphanet:1770]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1770"}
synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541]
synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430]
synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430]
xref: GARD:0002541 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.1 {source="Orphanet:1770", source="ORDO:1770/attributed", source="ORDO:1770/ntbt"}
xref: MESH:C565536 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233430 {source="Orphanet:1770", source="ORDO:1770/e", source="MONDO:equivalentTo"}
xref: Orphanet:1770 {source="MONDO:equivalentTo", source="OMIM:233430"}
xref: UMLS:C1856272 {source="GARD:0002541", source="Orphanet:1770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233430"}
is_a: MONDO:0017978 {source="Orphanet:1770"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:1770"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C565536
property_value: exactMatch http://identifiers.org/omim/233430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856272
property_value: exactMatch Orphanet:1770
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies xsd:anyURI {source="GARD:0002541"}

[Term]
id: MONDO:0009303
name: anti-glomerular basement membrane disease
def: "Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis . Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies . Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." [https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome]
subset: gard_rare {source="GARD:0002551"}
subset: ordo_disease {source="Orphanet:375"}
synonym: "anti-GBM syndrome" EXACT [Orphanet:375]
synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551]
synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808]
synonym: "glomerulonephritis - pulmonary hemorrhage" RELATED [GARD:0002551]
synonym: "Goodpasture syndrome" EXACT [OMIM:233450, Orphanet:375]
synonym: "pulmonary renal syndrome" RELATED [GARD:0002551]
synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551]
xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"}
xref: EFO:0007290 {source="MONDO:equivalentTo"}
xref: GARD:0002551 {source="MONDO:equivalentTo"}
xref: ICD10:M31.0 {source="DOID:9808"}
xref: ICD10:M31.0+ {source="ORDO:375/e", source="Orphanet:375"}
xref: ICD10:N08.5* {source="ORDO:375/e", source="Orphanet:375"}
xref: ICD9:446.21 {source="DOID:9808"}
xref: MedDRA:10018620 {source="ORDO:375/e", source="Orphanet:375"}
xref: MESH:D019867 {source="EFO:0007290", source="MONDO:equivalentTo", source="DOID:9808", source="MONDO:ontobio"}
xref: NCIT:C84566 {source="MONDO:equivalentTo", source="DOID:9808", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: OMIM:233450 {source="MONDO:equivalentTo", source="DOID:9808", source="ORDO:375/e", source="Orphanet:375"}
xref: Orphanet:375 {source="OMIM:233450", source="MONDO:equivalentTo"}
xref: SCTID:236432001 {source="MONDO:kboom-pr-0.73/0.44/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0403529 {source="NCBI:mim2gene_medline", source="OMIM:233450", source="MONDO:equivalentTo", source="DOID:9808", source="ORDO:375/e", source="Orphanet:375", source="NCIT:C84566"}
is_a: MONDO:0015490 {source="Orphanet:375"} ! predominantly small-vessel vasculitis
is_a: MONDO:0017035 {source="Orphanet:375"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
is_a: MONDO:0019724 {source="Orphanet:375"} ! secondary glomerular disease
is_a: MONDO:0030703 ! autoimmune vasculitis
property_value: closeMatch http://identifiers.org/snomedct/155445002
property_value: closeMatch http://identifiers.org/snomedct/195351002
property_value: closeMatch http://identifiers.org/snomedct/236506009
property_value: closeMatch http://identifiers.org/snomedct/266323005
property_value: closeMatch http://identifiers.org/snomedct/50581000
property_value: closeMatch NCIT:C34649
property_value: exactMatch DOID:9808
property_value: exactMatch http://identifiers.org/meddra/10018620
property_value: exactMatch http://identifiers.org/mesh/D019867
property_value: exactMatch http://identifiers.org/omim/233450
property_value: exactMatch http://identifiers.org/snomedct/236432001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403529
property_value: exactMatch NCIT:C84566
property_value: exactMatch Orphanet:375
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome xsd:anyURI {source="GARD:0002551"}

[Term]
id: MONDO:0009304
name: Gorlin-Chaudhry-Moss syndrome
def: "Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies." [Orphanet:2095]
comment: Editor note: check OMIM
subset: gard_rare {source="GARD:0000066"}
subset: ordo_malformation_syndrome {source="Orphanet:2095"}
synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora," RELATED [OMIM:233500]
synonym: "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" RELATED [GARD:0000066]
synonym: "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" EXACT [Orphanet:2095]
synonym: "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" EXACT [Orphanet:2095]
synonym: "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" RELATED [OMIM:233500]
synonym: "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" EXACT [Orphanet:2095]
synonym: "GCM syndrome" EXACT [Orphanet:2095]
synonym: "GCMS" RELATED [MONDO:Lexical, OMIM:233500]
synonym: "Gorlin Chaudhry Moss syndrome" RELATED [GARD:0000066]
synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [MONDO:Lexical, OMIM:233500]
synonym: "GORLIN-Chaudhry-MOSS syndrome; GCMS" RELATED [OMIM:233500]
synonym: "moved to 612289" RELATED [OMIM:233500]
xref: GARD:0000066 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2095/ntbt", source="ORDO:2095/index", source="Orphanet:2095"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537290 {source="MONDO:equivalentTo", source="ORDO:2095/e", source="MONDO:ontobio", source="Orphanet:2095"}
xref: OMIM:233500 {source="MONDO:equivalentTo", source="ORDO:2095/e", source="Orphanet:2095"}
xref: Orphanet:2095 {source="MONDO:equivalentTo", source="OMIM:233500"}
xref: SCTID:205800003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C0345382 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2095/e", source="OMIM:233500", source="Orphanet:2095"}
is_a: MONDO:0019287 {source="Orphanet:2095"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2095"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537290
property_value: exactMatch http://identifiers.org/omim/233500
property_value: exactMatch http://identifiers.org/snomedct/205800003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345382
property_value: exactMatch Orphanet:2095
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/66/gorlin-chaudhry-moss-syndrome xsd:anyURI {source="GARD:0000066"}

[Term]
id: MONDO:0009305
name: granulocytopenia with immunoglobulin abnormality
synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [OMIM:233600]
xref: MESH:C565535 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233600 {source="MONDO:equivalentTo"}
xref: UMLS:C1856263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565535
property_value: exactMatch http://identifiers.org/omim/233600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856263

[Term]
id: MONDO:0009306
name: combined immunodeficiency with skin granulomas
subset: ordo_disease {source="Orphanet:157949"}
synonym: "CCHIDG" RELATED [MONDO:Lexical, OMIM:233650]
synonym: "Cid due to RAG 1/2 deficiency" EXACT [Orphanet:157949]
synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650]
synonym: "combined cellular and humoral immune defects with granulomas; CCHIDG" RELATED [OMIM:233650]
synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949]
xref: ICD10:D81.1 {source="Orphanet:157949", source="ORDO:157949/attributed", source="ORDO:157949/ntbt"}
xref: MESH:C567115 {source="MONDO:equivalentTo"}
xref: OMIM:233650 {source="MONDO:equivalentTo", source="Orphanet:157949", source="ORDO:157949/e"}
xref: Orphanet:157949 {source="MONDO:equivalentTo", source="OMIM:233650"}
xref: UMLS:C2673536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233650", source="MEDGEN:kboom-pr92-c96", source="Orphanet:157949"}
is_a: MONDO:0018814 {source="Orphanet:157949"} ! non-severe combined immunodeficiency
is_a: MONDO:0019305 {source="Orphanet:157949"} ! immune deficiency with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C567115
property_value: exactMatch http://identifiers.org/omim/233650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673536
property_value: exactMatch Orphanet:157949

[Term]
id: MONDO:0009307
name: granulomatous disease with defect in neutrophil chemotaxis
synonym: "granulomatous disease with defect in neutrophil chemotaxis" RELATED [OMIM:233670]
xref: MESH:C565534 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233670 {source="MONDO:equivalentTo"}
xref: UMLS:C1856261 {source="NCBI:mim2gene_medline", source="OMIM:233670", source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="MESH:C565534", source="ORDO:379/btnt"} ! chronic granulomatous disease
property_value: exactMatch http://identifiers.org/mesh/C565534
property_value: exactMatch http://identifiers.org/omim/233670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856261

[Term]
id: MONDO:0009308
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
synonym: "CGD due to deficiency of the Alpha Subunit of cytochrome B" RELATED [OMIM:233690]
synonym: "CGD, autosomal recessive cytochrome B-negative" RELATED [OMIM:233690]
synonym: "Cyba deficiency" RELATED [OMIM:233690]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" EXACT [OMIM:233690]
xref: DOID:0070193 {source="MONDO:equivalentTo"}
xref: MESH:C565533 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233690 {source="MONDO:equivalentTo"}
xref: UMLS:C1856255 {source="OMIM:233690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="DC-OMIM:233690", source="MESH:C565533", source="OMIM:233690"} ! chronic granulomatous disease
property_value: exactMatch DOID:0070193
property_value: exactMatch http://identifiers.org/mesh/C565533
property_value: exactMatch http://identifiers.org/omim/233690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856255

[Term]
id: MONDO:0009309
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDG1" RELATED [OMIM:233700]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [OMIM:233700]
synonym: "chronic granulomatous disease caused by mutation in NCF1" EXACT [MONDO:design_pattern]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I" RELATED [OMIM:233700]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I; CDG1" RELATED [OMIM:233700]
synonym: "granulomatous disease, chronic, due to Ncf1 deficiency" RELATED [OMIM:233700]
synonym: "NCF1 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ncf1, deficiency of" RELATED [OMIM:233700]
synonym: "neutrophil cytosol Factor 1, deficiency of" RELATED [OMIM:233700]
synonym: "p47-PHOX, deficiency of" RELATED [OMIM:233700]
synonym: "Soc2, deficiency of" RELATED [OMIM:233700]
synonym: "soluble oxidase component II, deficiency of" RELATED [OMIM:233700]
xref: DOID:0070192 {source="MONDO:equivalentTo"}
xref: MESH:C565532 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233700 {source="MONDO:equivalentTo"}
xref: UMLS:C1856251 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233700"}
is_a: MONDO:0018305 {source="DC-OMIM:233700", source="MESH:C565532", source="MONDO:Redundant", source="OMIM:233700"} ! chronic granulomatous disease
property_value: exactMatch DOID:0070192
property_value: exactMatch http://identifiers.org/mesh/C565532
property_value: exactMatch http://identifiers.org/omim/233700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856251

[Term]
id: MONDO:0009310
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDG2" RELATED [OMIM:233710]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [OMIM:233710]
synonym: "chronic granulomatous disease caused by mutation in NCF2" EXACT [MONDO:design_pattern]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II" RELATED [OMIM:233710]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II; CDG2" RELATED [OMIM:233710]
synonym: "granulomatous disease, chronic, due to Ncf2 deficiency" RELATED [OMIM:233710]
synonym: "NCF2 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ncf2, deficiency of" RELATED [OMIM:233710]
synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [OMIM:233710]
synonym: "P67-PHOX, deficiency of" RELATED [OMIM:233710]
xref: DOID:0070191 {source="MONDO:equivalentTo"}
xref: MESH:C565531 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233710 {source="MONDO:equivalentTo"}
xref: UMLS:C1856245 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233710"}
is_a: MONDO:0018305 {source="DC-OMIM:233710", source="MESH:C565531", source="MONDO:Redundant", source="OMIM:233710"} ! chronic granulomatous disease
property_value: exactMatch DOID:0070191
property_value: exactMatch http://identifiers.org/mesh/C565531
property_value: exactMatch http://identifiers.org/omim/233710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856245

[Term]
id: MONDO:0009311
name: grouped pigmentation of the retina
synonym: "grouped pigmentation of retinal pigment epithelium" RELATED [OMIM:233800]
synonym: "grouped pigmentation of the macula" RELATED [OMIM:233800]
synonym: "grouped pigmentation of the retina" EXACT [OMIM:233800]
xref: MESH:C565530 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:233800 {source="MONDO:equivalentTo"}
xref: UMLS:C1856244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233800"}
is_a: MONDO:0003847 {source="MESH:C565530/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565530
property_value: exactMatch http://identifiers.org/omim/233800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856244

[Term]
id: MONDO:0009312
name: lipodystrophy due to peptidic growth factors deficiency
def: "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." [Orphanet:1979]
subset: ordo_disease {source="Orphanet:1979"}
synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [Orphanet:1979]
synonym: "growth factors, combined defect OF" RELATED [OMIM:233805]
synonym: "Hoepffner Dreyer Reimers syndrome" RELATED [GARD:0004280]
synonym: "Hoepffner-Dreyer-Reimers syndrome" EXACT [Orphanet:1979]
synonym: "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency" RELATED [OMIM:233805]
synonym: "peptide growth factors deficiency" RELATED [GARD:0004280]
synonym: "peptidic growth factors deficiency" RELATED [GARD:0004280]
synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [OMIM:233805]
synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979]
xref: GARD:0004280 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0012604 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E88.1 {source="ORDO:1979/attributed", source="ORDO:1979/ntbt", source="Orphanet:1979"}
xref: MESH:C565529 {source="MONDO:equivalentTo"}
xref: OMIM:233805 {source="MONDO:equivalentTo", source="ORDO:1979/e", source="Orphanet:1979"}
xref: Orphanet:1979 {source="OMIM:233805", source="MONDO:equivalentTo"}
xref: SCTID:724176001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931279 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1979"}
is_a: MONDO:0020087 {source="Orphanet:1979"} ! genetic lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856243
property_value: exactMatch http://identifiers.org/mesh/C565529
property_value: exactMatch http://identifiers.org/omim/233805
property_value: exactMatch http://identifiers.org/snomedct/724176001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931279
property_value: exactMatch Orphanet:1979

[Term]
id: MONDO:0009313
name: Grubben-de Cock-Borghgraef syndrome
def: "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." [Orphanet:2101]
subset: gard_rare {source="GARD:0002576"}
subset: ordo_malformation_syndrome {source="Orphanet:2101"}
synonym: "developmental delay - hypotonia - extremities hypertrophy" RELATED [GARD:0002576]
synonym: "developmental delay-hypotonia-extremities hypertrophy syndrome" EXACT [Orphanet:2101]
synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [OMIM:233810]
synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576]
synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576]
xref: GARD:0002576 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2101", source="ORDO:2101/attributed", source="ORDO:2101/ntbt"}
xref: MESH:C537621 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo"}
xref: OMIM:233810 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo"}
xref: Orphanet:2101 {source="MONDO:equivalentTo", source="OMIM:233810"}
xref: UMLS:C2931551 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:2101"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856242
property_value: exactMatch http://identifiers.org/mesh/C537621
property_value: exactMatch http://identifiers.org/omim/233810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931551
property_value: exactMatch Orphanet:2101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome xsd:anyURI {source="GARD:0002576"}

[Term]
id: MONDO:0009314
name: GTP-cyclohydrolase I deficiency
def: "GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. GTP-cyclohydrolase I deficiency should be suspected in all infants with a positive neonatal screening test for phenylketonuria, especially when hyperphenylalaninemia is moderate. The most effective way to diagnose the disorder is to measure pteridine levels in urine and to confirm the result by measuring neurotransmitters (5-hydroxyindolacetic acid, homovanillic acid) in cerebrospinal fluid and with an oral tetrahydrobiopterin-loading test (20 mg/kg). When left untreated, the deficiency causes neurological signs at age 4 or 5 months, although clinical signs are often obvious from birth. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. The treatment attempts to bring phenylalaninemia levels back to normal (diet with restricted phenylalanine intake or prescription of tetrahydrobiopterin) and to restore normal monoaminergic neurotransmission by administering precursors (L-dopa/carbidopa and 5-hydroxytryptophane)." [https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency, Orphanet:2102]
subset: gard_rare {source="GARD:0002844"}
subset: ordo_clinical_subtype {source="Orphanet:2102"}
synonym: "dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive" RELATED [OMIM:233910]
synonym: "GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910]
synonym: "GTP cyclohydrolase I deficiency" RELATED [Orphanet:2102]
synonym: "GTPCH deficiency" EXACT [Orphanet:2102]
synonym: "HPABH4B" RELATED [MONDO:Lexical, OMIM:233910]
synonym: "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" EXACT [Orphanet:2102]
synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO:Lexical, OMIM:233910]
synonym: "hyperphenylalaninemia, BH4-deficient, B; HPABH4B" RELATED [OMIM:233910]
synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910]
xref: GARD:0002844 {source="MONDO:equivalentTo"}
xref: ICD10:E70.1 {source="Orphanet:2102", source="ORDO:2102/attributed", source="ORDO:2102/ntbt"}
xref: NCIT:C141442 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:233910 {source="Orphanet:2102", source="ORDO:2102/e", source="MONDO:equivalentTo"}
xref: Orphanet:2102 {source="MONDO:equivalentTo", source="OMIM:233910"}
xref: SCTID:23447005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268467 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:2102", source="ORDO:2102/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233910"}
is_a: MONDO:0016543 {source="DC-OMIM:233910", source="MONDOLEX:0009314", source="Orphanet:2102", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a: MONDO:0045014 ! tetrahydrobiopterin metabolic process disease
property_value: exactMatch http://identifiers.org/omim/233910
property_value: exactMatch http://identifiers.org/snomedct/23447005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268467
property_value: exactMatch NCIT:C141442
property_value: exactMatch Orphanet:2102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency xsd:anyURI {source="GARD:0002844"}

[Term]
id: MONDO:0009315
name: congenital factor XII deficiency
def: "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." [Orphanet:330]
subset: gard_rare {source="GARD:0006558"}
subset: ordo_disease {source="Orphanet:330"}
synonym: "coagulation factor 12 deficiency" RELATED [GARD:0006558]
synonym: "congenital Hageman factor deficiency" EXACT [Orphanet:330]
synonym: "deficiency, Hageman" EXACT [DOID:2231, MTHICD9_2006:286.3]
synonym: "F12 deficiency" RELATED [OMIM:234000]
synonym: "factor 12 deficiency" RELATED [GARD:0006558]
synonym: "factor XII deficiency" RELATED [OMIM:234000]
synonym: "factor XII deficiency disease" EXACT [DOID:2231]
synonym: "Haf deficiency" RELATED [OMIM:234000]
synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000]
xref: DOID:2231 {source="MONDO:equivalentTo"}
xref: GARD:0006558 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="ORDO:330/attributed", source="ORDO:330/ntbt", source="Orphanet:330"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005175 {source="DOID:2231", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131740 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:234000 {source="DOID:2231", source="MONDO:equivalentTo", source="ORDO:330/e", source="Orphanet:330"}
xref: Orphanet:330 {source="OMIM:234000", source="MONDO:equivalentTo"}
xref: SCTID:46981006 {source="DOID:2231", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0015526 {source="DOID:2231", source="NCBI:mim2gene_medline", source="OMIM:234000", source="MONDO:equivalentTo", source="NCIT:C131740", source="Orphanet:330"}
is_a: MONDO:0000429 {source="DOID:2231"} ! autosomal genetic disease
is_a: MONDO:0002242 {source="MESH:D005175"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005175"} ! hemorrhagic disease
is_a: MONDO:0016633 {source="Orphanet:330"} ! thrombotic disorder due to a constitutional coagulation factors defect
property_value: exactMatch DOID:2231
property_value: exactMatch http://identifiers.org/mesh/D005175
property_value: exactMatch http://identifiers.org/omim/234000
property_value: exactMatch http://identifiers.org/snomedct/46981006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015526
property_value: exactMatch NCIT:C131740
property_value: exactMatch Orphanet:330
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency xsd:anyURI {source="GARD:0006558"}

[Term]
id: MONDO:0009316
name: hair defect-photosensitivity-intellectual disability syndrome
def: "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." [Orphanet:1408]
subset: ordo_malformation_syndrome {source="Orphanet:1408"}
synonym: "Calderon Gonzalez-Cantu syndrome" RELATED [GARD:0002582]
synonym: "Calderón-González-Cantu syndrome" EXACT [Orphanet:1408]
synonym: "hair defect with photosensitivity and mental retardation" RELATED [OMIM:234030]
synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" RELATED [GARD:0002582]
xref: GARD:0002582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537628 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:234030 {source="MONDO:equivalentTo", source="Orphanet:1408", source="ORDO:1408/e"}
xref: Orphanet:1408 {source="OMIM:234030", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1408"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019282 {source="Orphanet:1408"} ! syndromic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C537628
property_value: exactMatch http://identifiers.org/omim/234030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856241
property_value: exactMatch Orphanet:1408

[Term]
id: MONDO:0009317
name: nonphotosensitive trichothiodystrophy
def: "A trichothiodystrophy that is non-photosensitive" [https://en.wikipedia.org/wiki/Trichothiodystrophy]
comment: Editor note: consider obsoleting
xref: Orphanet:1245 {source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0018053 ! trichothiodystrophy
property_value: exactMatch Orphanet:1245

[Term]
id: MONDO:0009318
name: Hallermann-Streiff syndrome
def: "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." [Orphanet:2108]
subset: gard_rare {source="GARD:0000288"}
subset: ordo_malformation_syndrome {source="Orphanet:2108"}
synonym: "FranC'ois dyscephalic syndrome" EXACT [Orphanet:2108]
synonym: "Francois dyscephalic syndrome" EXACT [DOID:4534, OMIM:234100]
synonym: "François dyscephalic syndrome" EXACT [Orphanet:2108]
synonym: "Hallerman - Streiff syndrome" EXACT [DOID:4534]
synonym: "Hallermann Streiff Francois syndrome" RELATED [GARD:0000288]
synonym: "Hallermann Streiff syndrome" RELATED [GARD:0000288]
synonym: "Hallermann syndrome" EXACT [NCIT:C84746]
synonym: "Hallermann's syndrome" EXACT [DOID:4534]
synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100]
synonym: "Hallermann-Streiff syndrome; HSS" RELATED [OMIM:234100]
synonym: "HSS" RELATED [MONDO:Lexical, OMIM:234100]
synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108]
xref: DOID:4534 {source="MONDO:equivalentTo"}
xref: GARD:0000288 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2108/ntbt", source="ORDO:2108/index", source="Orphanet:2108"}
xref: MESH:D006210 {source="DOID:4534", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84746 {source="MONDO:kboom-pr-1.00/0.91/29.35", source="DOID:4534", source="MONDO:equivalentTo"}
xref: OMIM:234100 {source="DOID:4534", source="MONDO:equivalentTo", source="Orphanet:2108", source="ORDO:2108/e"}
xref: Orphanet:2108 {source="DOID:4534", source="OMIM:234100", source="MONDO:equivalentTo"}
xref: SCTID:7903009 {source="DOID:4534", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0018522 {source="NCIT:C84746", source="DOID:4534", source="OMIM:234100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2108", source="ORDO:2108/e"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! Mendelian disease
is_a: MONDO:0019303 {source="Orphanet:2108"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2108", source="indirect"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="DOID:4534", source="MONDO:Redundant", source="NCIT:C84746", source="indirect"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:2108", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015329 {source="Orphanet:2108", source="linkedlifedata/inferred"} ! malformation syndrome with short stature
relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:2108", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:2108"} ! slender bone dysplasia
relationship: excluded_subClassOf MONDO:0020188 {source="Orphanet:2108"} ! obsolete congenital absence of the eyebrow/eyelashes
relationship: excluded_subClassOf MONDO:0020234 {source="Orphanet:2108"} ! craniofacial anomaly with cataract
relationship: excluded_subClassOf MONDO:0020277 {source="Orphanet:2108"} ! ectodermal malformation syndrome associated with ocular features
relationship: excluded_subClassOf MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2108"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/snomedct/205417000
property_value: exactMatch DOID:4534
property_value: exactMatch http://identifiers.org/mesh/D006210
property_value: exactMatch http://identifiers.org/omim/234100
property_value: exactMatch http://identifiers.org/snomedct/7903009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018522
property_value: exactMatch NCIT:C84746
property_value: exactMatch Orphanet:2108
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome xsd:anyURI {source="GARD:0000288"}

[Term]
id: MONDO:0009319
name: pantothenate kinase-associated neurodegeneration
def: "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." [Orphanet:157850]
subset: ordo_disease {source="Orphanet:157850"}
synonym: "brain iron accumulation type I syndrome" EXACT [DOID:3981, NCIT:C8967]
synonym: "Hallervorden-Spatz disease" EXACT DEPRECATED [DOID:3981, MTHICD9_2006:333.0, OMIM:234200]
synonym: "Hallervorden-Spatz syndrome" EXACT DEPRECATED [DOID:3981, Orphanet:157850]
synonym: "NBIA1" EXACT [DOID:3981, MONDO:Lexical, OMIM:234200, Orphanet:157850]
synonym: "neuroaxonal dystrophy, late infantile" RELATED [GARD:0006564]
synonym: "neurodegeneration with brain iron accumulation 1" EXACT [DOID:3981, MONDO:Lexical, OMIM:234200]
synonym: "neurodegeneration with brain iron accumulation 1; NBIA1" RELATED [OMIM:234200]
synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [MONDORULE:1, OMIM:234200, Orphanet:157850]
synonym: "pantothenate kinase-associated neurodegeneration" EXACT [OMIM:234200]
synonym: "pigmentary pallidal degeneration" EXACT [DOID:3981]
synonym: "PKAN" EXACT [Orphanet:157850]
synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200]
xref: DOID:3981 {source="MONDO:equivalentTo"}
xref: GARD:0006564 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="ORDO:157850/specific"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D006211 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84988 {source="DOID:3981", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:234200 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo"}
xref: Orphanet:157850 {source="DOID:3981", source="MONDO:equivalentTo", source="OMIM:234200"}
xref: SCTID:2992000 {source="DOID:3981", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0018523 {source="ORDO:157850/e", source="MEDGEN:kboom-pr98-c99", source="DOID:3981", source="Orphanet:157850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234200"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016987 {source="Orphanet:157850"} ! neuroacanthocytosis
is_a: MONDO:0017760 {source="Orphanet:157850"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0018118 {source="Orphanet:157850"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0018307 {source="DC-OMIM:234200", source="DOID:3981", source="OMIM:234200", source="Orphanet:157850"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0020240 {source="Orphanet:157850"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020281 {source="Orphanet:157850"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch NCIT:C8967
property_value: exactMatch DOID:3981
property_value: exactMatch http://identifiers.org/mesh/D006211
property_value: exactMatch http://identifiers.org/omim/234200
property_value: exactMatch http://identifiers.org/snomedct/2992000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018523
property_value: exactMatch NCIT:C84988
property_value: exactMatch Orphanet:157850

[Term]
id: MONDO:0009320
name: Hall-Riggs syndrome
def: "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." [Orphanet:2107]
subset: ordo_malformation_syndrome {source="Orphanet:2107"}
synonym: "Hall Riggs mental retardation syndrome" RELATED [GARD:0002586]
synonym: "HALL-Riggs mental retardation syndrome" RELATED [OMIM:234250]
xref: GARD:0002586 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2107/attributed", source="ORDO:2107/ntbt", source="Orphanet:2107"}
xref: MESH:C535623 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:234250 {source="MONDO:equivalentTo", source="ORDO:2107/e", source="Orphanet:2107"}
xref: Orphanet:2107 {source="OMIM:234250", source="MONDO:equivalentTo"}
xref: SCTID:721008000 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1856198 {source="OMIM:234250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2107/e", source="Orphanet:2107"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2107", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2107"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535623
property_value: exactMatch http://identifiers.org/omim/234250
property_value: exactMatch http://identifiers.org/snomedct/721008000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856198
property_value: exactMatch Orphanet:2107

[Term]
id: MONDO:0009321
name: hallux varus-preaxial polysyndactyly syndrome
def: "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." [Orphanet:2110]
subset: ordo_malformation_syndrome {source="Orphanet:2110"}
synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280]
synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118]
synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110]
xref: GARD:0003118 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q74.2 {source="Orphanet:2110", source="ORDO:2110/attributed", source="ORDO:2110/ntbt"}
xref: MESH:C536885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="ORDO:2110/e"}
xref: Orphanet:2110 {source="MONDO:equivalentTo", source="OMIM:234280"}
xref: UMLS:C1856197 {source="Orphanet:2110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:234280"}
is_a: MONDO:0017434 {source="Orphanet:2110"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C536885
property_value: exactMatch http://identifiers.org/omim/234280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856197
property_value: exactMatch Orphanet:2110

[Term]
id: MONDO:0009322
name: obsolete halo nevi
xref: OMIM:234300 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/omim/234300
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1259 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/pull/1411 xsd:string
is_obsolete: true
replaced_by: MONDO:0006778

[Term]
id: MONDO:0009323
name: Halothane hepatitis
synonym: "Halothane hepatitis" EXACT [OMIM:234350]
xref: MESH:C562477 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:234350 {source="MONDO:equivalentTo"}
xref: SCTID:235873001 {source="MONDO:kboom-pr-1.00/0.84/14.86", source="MONDO:equivalentTo"}
xref: UMLS:C0241913 {source="OMIM:234350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562477
property_value: exactMatch http://identifiers.org/omim/234350
property_value: exactMatch http://identifiers.org/snomedct/235873001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241913

[Term]
id: MONDO:0009324
name: Hartnup disease
def: "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." [Orphanet:2116]
subset: gard_rare {source="GARD:0006569"}
subset: ordo_disease {source="Orphanet:2116"}
synonym: "aminoaciduria, Hartnup type" EXACT [Orphanet:2116]
synonym: "deficiency of tryptophan oxygenase" EXACT [DOID:1060]
synonym: "Hartnup disease" EXACT [OMIM:234500]
synonym: "Hartnup disorder" EXACT [MONDO:Lexical, OMIM:234500, Orphanet:2116]
synonym: "Hartnup disorder; HND" RELATED [OMIM:234500]
synonym: "HND" RELATED [MONDO:Lexical, OMIM:234500]
synonym: "neutral 1 amino acid transport defect" EXACT []
synonym: "neutral amino acid transport defect" EXACT [CSP2005:1849-4235, DOID:1060]
xref: DOID:1060 {source="MONDO:equivalentTo"}
xref: GARD:0006569 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="ORDO:2116/ntbt", source="Orphanet:2116", source="ORDO:2116/inclusion"}
xref: ICD10:E72.02 {source="DOID:1060"}
xref: MedDRA:10019165 {source="ORDO:2116/e", source="Orphanet:2116"}
xref: MESH:D006250 {source="ORDO:2116/e", source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060"}
xref: NCIT:C84748 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.86/2.73", source="DOID:1060"}
xref: OMIM:234500 {source="ORDO:2116/e", source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060"}
xref: Orphanet:2116 {source="MONDO:equivalentTo", source="OMIM:234500"}
xref: SCTID:80902009 {source="MONDO:equivalentTo", source="DOID:1060"}
xref: UMLS:C0018609 {source="NCIT:C84748", source="ORDO:2116/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2116", source="OMIM:234500", source="DOID:1060"}
is_a: MONDO:0004736 {source="DOID:1060"} ! inherited amino acid metabolic disorder
is_a: MONDO:0015951 {source="Orphanet:2116"} ! hereditary photodermatosis
is_a: MONDO:0017687 {source="Orphanet:2116"} ! disorder of neutral amino acid transport
is_a: MONDO:0019058 {source="Orphanet:2116"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019304 {source="Orphanet:2116"} ! rare photodermatosis
is_a: MONDO:0019743 {source="Orphanet:2116"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0044975 ! disease of transporter activity
property_value: closeMatch http://identifiers.org/snomedct/124208000
property_value: exactMatch DOID:1060
property_value: exactMatch http://identifiers.org/meddra/10019165
property_value: exactMatch http://identifiers.org/mesh/D006250
property_value: exactMatch http://identifiers.org/omim/234500
property_value: exactMatch http://identifiers.org/snomedct/80902009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018609
property_value: exactMatch NCIT:C84748
property_value: exactMatch Orphanet:2116
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease xsd:anyURI {source="GARD:0006569"}

[Term]
id: MONDO:0009325
name: deafness-enamel hypoplasia-nail defects syndrome
def: "Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive." [Orphanet:3220]
subset: ordo_malformation_syndrome {source="Orphanet:3220"}
synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" RELATED [GARD:0001687]
synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687]
synonym: "Heimler syndrome" EXACT [Orphanet:3220]
synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687]
xref: GARD:0001687 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C535994 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3220", source="ORDO:3220/e"}
xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:equivalentTo"}
xref: SCTID:721085000 {source="MONDO:kboom-pr-1.00/0.75/6.82", source="MONDO:equivalentTo"}
xref: UMLS:C1856186 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:3220"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:3220", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 {source="Orphanet:3220"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535994
property_value: exactMatch http://identifiers.org/snomedct/721085000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856186
property_value: exactMatch Orphanet:3220

[Term]
id: MONDO:0009326
name: congenital heart block
def: "Heart block that occurs on or before 28 days of life." [PMID:22368629]
subset: gard_rare {source="GARD:0006164"}
subset: ordo_disease {source="Orphanet:60041"}
synonym: "congenital atrioventricular block" EXACT [Orphanet:60041]
synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700]
xref: COHD:315069 {source="MONDO:equivalentTo"}
xref: DOID:990 {source="MONDO:equivalentTo"}
xref: GARD:0006164 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.6 {source="MONDO:equivalentTo", source="ORDO:60041/specific", source="DOID:990", source="ORDO:60041/e", source="Orphanet:60041"}
xref: ICD9:746.86 {source="MONDO:equivalentTo", source="i2s", source="DOID:990"}
xref: MedDRA:10019263 {source="ORDO:60041/e", source="Orphanet:60041"}
xref: MESH:C535758 {source="MONDO:equivalentTo", source="DOID:990", source="MONDO:ontobio", source="ORDO:60041/e", source="Orphanet:60041"}
xref: OMIM:234700 {source="MONDO:equivalentTo", source="DOID:990", source="ORDO:60041/e", source="Orphanet:60041"}
xref: Orphanet:60041 {source="MONDO:equivalentTo", source="OMIM:234700"}
xref: SCTID:46619002 {source="MONDO:equivalentTo", source="DOID:990", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0149530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:990", source="OMIM:234700", source="ORDO:60041/e", source="Orphanet:60041"}
is_a: MONDO:0000465 {source="DOID:990"} ! atrioventricular block (disease)
relationship: excluded_subClassOf MONDO:0015110 {source="Orphanet:60041"} ! genetic cardiac rhythm disease
relationship: has_modifier MONDO:0021136 {source="PMID:22368629"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156924006
property_value: closeMatch http://identifiers.org/snomedct/204381004
property_value: closeMatch http://identifiers.org/snomedct/204382006
property_value: closeMatch http://identifiers.org/snomedct/204385008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3884338
property_value: exactMatch DOID:990
property_value: exactMatch http://identifiers.org/meddra/10019263
property_value: exactMatch http://identifiers.org/mesh/C535758
property_value: exactMatch http://identifiers.org/omim/234700
property_value: exactMatch http://identifiers.org/snomedct/46619002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149530
property_value: exactMatch Orphanet:60041
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block xsd:anyURI {source="GARD:0006164"}

[Term]
id: MONDO:0009327
name: heart, malformation of
synonym: "heart, malformation of" EXACT [OMIM:140500, OMIM:234750]
xref: OMIM:140500 {source="MONDO:equivalentTo"}
xref: OMIM:234750 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019512 ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018798
property_value: exactMatch http://identifiers.org/omim/140500
property_value: exactMatch http://identifiers.org/omim/234750

[Term]
id: MONDO:0009328
name: hemangiomatosis, cutaneous, with associated features
synonym: "hemangiomatosis, cutaneous, with associated features" EXACT [OMIM:234800]
xref: MESH:C562438 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:234800 {source="MONDO:equivalentTo"}
xref: UMLS:C0220738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562438
property_value: exactMatch http://identifiers.org/omim/234800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220738

[Term]
id: MONDO:0009329
name: pulmonary venoocclusive disease 2
def: "A rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." [Orphanet:199241]
comment: Editor note: check ORDO class - not clear if it intends to be the same as PVOD2
subset: ordo_disease {source="Orphanet:199241"}
synonym: "familial pulmonary capillary hemangiomatosis" RELATED [GARD:0008527]
synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [OMIM:234810]
synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241]
synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810]
synonym: "pulmonary venoocclusive disease 2, autosomal recessive; PVOD2" RELATED [OMIM:234810]
synonym: "PVOD2" RELATED [MONDO:Lexical, OMIM:234810]
xref: GARD:0008527 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D18.0 {source="Orphanet:199241", source="ORDO:199241/attributed", source="ORDO:199241/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:199241/e"}
xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source="ORDO:199241/e"}
xref: Orphanet:199241 {source="MONDO:equivalentTo", source="OMIM:234810"}
xref: SCTID:233949008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.42"}
xref: UMLS:C0340548 {source="Orphanet:199241", source="MONDO:equivalentTo", source="ORDO:199241/e"}
is_a: MONDO:0009937 {source="OMIM:234810"} ! pulmonary venoocclusive disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340848
property_value: exactMatch http://identifiers.org/mesh/C535861
property_value: exactMatch http://identifiers.org/omim/234810
property_value: exactMatch http://identifiers.org/snomedct/233949008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340548
property_value: exactMatch Orphanet:199241

[Term]
id: MONDO:0009330
name: hemangiopericytoma, malignant
def: "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." [NCIT:C4301]
synonym: "hemangiopericytoma, malignant" EXACT [NCIT:C4301, OMIM:234820]
synonym: "malignant hemangiopericytoma" EXACT [NCIT:C4301]
synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [NCIT:C4301]
xref: GARD:0002627 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICDO:9150/3 {source="NCIT:C4301"}
xref: MESH:C562740 {source="MONDO:equivalentTo"}
xref: NCIT:C4301 {source="MONDO:equivalentTo"}
xref: OMIM:234820 {source="MONDO:equivalentTo"}
xref: UMLS:C0334542 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4301", source="OMIM:234820"}
is_a: MONDO:0005094 {source="MESH:C562740", source="NCIT:C4301"} ! hemangiopericytoma
is_a: MONDO:0016238 {source="MONDOLEX:0009330", source="ORDO:2126/btnt"} ! solitary fibrous tumor
property_value: exactMatch http://identifiers.org/mesh/C562740
property_value: exactMatch http://identifiers.org/omim/234820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334542
property_value: exactMatch NCIT:C4301

[Term]
id: MONDO:0009331
name: isolated hemihyperplasia
def: "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma." [Orphanet:2128]
subset: ordo_morphological_anomaly {source="Orphanet:2128"}
synonym: "hemi 3 syndrome" EXACT [Orphanet:2128]
synonym: "hemi-3 syndrome" RELATED [OMIM:235000]
synonym: "Hemicorporal hypertrophy" EXACT [Orphanet:2128]
synonym: "hemihyperplasia" RELATED [OMIM:235000]
synonym: "hemihyperplasia, isolated" RELATED [MONDO:Lexical, OMIM:235000]
synonym: "hemihyperplasia, isolated; IH" RELATED [OMIM:235000]
synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000]
synonym: "IH" RELATED [MONDO:Lexical, OMIM:235000]
synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128]
xref: GARD:0002630 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.3 {source="ORDO:2128/attributed", source="ORDO:2128/ntbt", source="Orphanet:2128"}
xref: MedDRA:10019463 {source="Orphanet:2128", source="ORDO:2128/e"}
xref: MESH:C565524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235000 {source="MONDO:equivalentTo", source="Orphanet:2128", source="ORDO:2128/e"}
xref: Orphanet:2128 {source="OMIM:235000", source="MONDO:equivalentTo"}
xref: UMLS:C1856184 {source="OMIM:235000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2128", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015496 {source="Orphanet:2128"} ! macroglossia
is_a: MONDO:0015945 {source="Orphanet:2128"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019716 {source="Orphanet:2128"} ! overgrowth syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856185
property_value: exactMatch http://identifiers.org/meddra/10019463
property_value: exactMatch http://identifiers.org/mesh/C565524
property_value: exactMatch http://identifiers.org/omim/235000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0332890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856184
property_value: exactMatch Orphanet:2128

[Term]
id: MONDO:0009332
name: congenital hematological disorder
def: "A disorder of the blood that is present at birth." [NCIT:C104003]
synonym: "congenital hematological disorder" EXACT [NCIT:C104003]
synonym: "congenital hematological system disease" EXACT [MONDO:patterns/congenital]
xref: NCIT:C104003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005570 ! hematologic disease
intersection_of: MONDO:0005570 ! hematologic disease
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch NCIT:C104003

[Term]
id: MONDO:0009333
name: mullerian derivatives-lymphangiectasia-polydactyly syndrome
def: "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." [Orphanet:1655]
subset: ordo_malformation_syndrome {source="Orphanet:1655"}
synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [OMIM:235255]
synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [Orphanet:1655]
synonym: "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly" RELATED [GARD:0005430]
synonym: "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" RELATED [GARD:0005430]
synonym: "Urioste syndrome" RELATED [OMIM:235255]
xref: GARD:0005430 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="ORDO:1655/e"}
xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"}
xref: UMLS:C1856159 {source="OMIM:235255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0018722 {source="Orphanet:1655"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019520 {source="Orphanet:1655"} ! syndromic lymphedema
property_value: exactMatch http://identifiers.org/mesh/C536478
property_value: exactMatch http://identifiers.org/omim/235255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856159
property_value: exactMatch Orphanet:1655

[Term]
id: MONDO:0009334
name: hemolytic anemia with thermal sensitivity of red cells
synonym: "hemolytic anemia with thermal sensitivity of red cells" EXACT [OMIM:235370]
xref: MESH:C565522 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235370 {source="MONDO:equivalentTo"}
xref: UMLS:C1856158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235370"}
is_a: MONDO:0017319 {source="ORDO:288/btnt"} ! hereditary elliptocytosis
property_value: exactMatch http://identifiers.org/mesh/C565522
property_value: exactMatch http://identifiers.org/omim/235370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856158

[Term]
id: MONDO:0009335
name: hemolytic uremic syndrome, atypical, susceptibility to, 1
subset: predisposition
synonym: "Ahus, susceptibility to, 1" RELATED [OMIM:235400]
synonym: "AHUS1" RELATED [MONDO:Lexical, OMIM:235400]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:235400]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1; AHUS1" RELATED [OMIM:235400]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:235400]
synonym: "hemolytic uremic syndrome, typical" RELATED [OMIM:235400]
synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [OMIM:235400]
xref: OMIM:235400 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:235400"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0016244 ! atypical hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856143
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749604
property_value: exactMatch http://identifiers.org/omim/235400

[Term]
id: MONDO:0009336
name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin
synonym: "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" EXACT [OMIM:235500]
xref: OMIM:235500 {source="MONDO:equivalentTo"}
is_a: MONDO:0008346 {source="MONDOLEX:0009336", source="ORDO:99931/btnt"} ! pulmonary hemosiderosis
property_value: exactMatch http://identifiers.org/omim/235500

[Term]
id: MONDO:0009337
name: Hennekam lymphangiectasia-lymphedema syndrome 1
def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCBE1 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [OMIM:235510]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT [MONDO:Lexical, OMIM:235510]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1; HKLLS1" RELATED [OMIM:235510]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1, OMIM:235510]
synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pattern]
synonym: "HKLLS1" RELATED [MONDO:Lexical, OMIM:235510]
synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510]
xref: OMIM:235510 {source="MONDO:equivalentTo"}
xref: UMLS:C4012050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016256 {source="DC-OMIM:235510", source="MONDO:Redundant"} ! Hennekam syndrome
property_value: exactMatch http://identifiers.org/omim/235510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012050

[Term]
id: MONDO:0009338
name: hepatic veno-occlusive disease-immunodeficiency syndrome
def: "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." [Orphanet:79124]
subset: gard_rare
subset: ordo_disease {source="Orphanet:79124"}
synonym: "familial veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257]
synonym: "hepatic veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257]
synonym: "hepatic venoocclusive disease with immunodeficiency" RELATED [MONDO:Lexical, OMIM:235550]
synonym: "hepatic venoocclusive disease with immunodeficiency; VODI" RELATED [OMIM:235550]
synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C537257]
synonym: "VODI" RELATED [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550]
synonym: "VODI syndrome" EXACT [Orphanet:79124]
xref: GARD:0010083 {source="MONDO:equivalentTo"}
xref: ICD10:K76.5 {source="MONDO:subClassOf", source="ORDO:79124/attributed", source="ORDO:79124/ntbt", source="Orphanet:79124"}
xref: MESH:C537257 {source="MONDO:equivalentTo"}
xref: OMIM:235550 {source="MONDO:equivalentTo", source="ORDO:79124/e", source="GARD:0010083", source="Orphanet:79124"}
xref: Orphanet:79124 {source="OMIM:235550", source="MONDO:equivalentTo", source="GARD:0010083"}
xref: SCTID:724361001 {source="MONDO:equivalentTo"}
xref: UMLS:C1856128 {source="OMIM:235550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="GARD:0010083", source="Orphanet:79124"}
is_a: MONDO:0018035 {source="Orphanet:79124"} ! syndrome with combined immunodeficiency
is_a: MONDO:0019514 {source="MESH:C537257"} ! hepatic veno-occlusive disease
property_value: exactMatch http://identifiers.org/mesh/C537257
property_value: exactMatch http://identifiers.org/omim/235550
property_value: exactMatch http://identifiers.org/snomedct/724361001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856128
property_value: exactMatch Orphanet:79124
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency xsd:anyURI {source="GARD:0010083"}

[Term]
id: MONDO:0009339
name: congenital bile acid synthesis defect 2
def: "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." [Orphanet:79303]
subset: ordo_disease {source="Orphanet:79303"}
synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BASD2" EXACT [Orphanet:79303]
synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical, OMIM:235555]
synonym: "bile acid synthesis defect, congenital, 2; CBAS2" RELATED [OMIM:235555]
synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1, OMIM:235555]
synonym: "CBAS2" EXACT [DOID:0111069, MONDO:Lexical, OMIM:235555]
synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [OMIM:235555]
synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, Orphanet:79303]
synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1]
synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045]
xref: DOID:0111069 {source="MONDO:equivalentTo"}
xref: GARD:0010045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K76.8 {source="Orphanet:79303", source="DOID:0111069", source="ORDO:79303/attributed", source="ORDO:79303/ntbt"}
xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="DOID:0111069", source="ORDO:79303/e"}
xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="DOID:0111069", source="ORDO:79303/e"}
xref: Orphanet:79303 {source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069"}
xref: UMLS:C1856127 {source="Orphanet:79303", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069", source="ORDO:79303/e"}
is_a: MONDO:0018841 {source="DC-OMIM:235555", source="DOID:0111069", source="MONDO:Redundant", source="OMIM:235555", source="Orphanet:79303"} ! congenital bile acid synthesis defect
property_value: exactMatch DOID:0111069
property_value: exactMatch http://identifiers.org/mesh/C535443
property_value: exactMatch http://identifiers.org/omim/235555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856127
property_value: exactMatch Orphanet:79303

[Term]
id: MONDO:0009340
name: non-spherocytic hemolytic anemia due to hexokinase deficiency
def: "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis , beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy , and latent diabetes .Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." [GARD:0003672]
subset: gard_rare
subset: ordo_disease {source="Orphanet:90031"}
synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [OMIM:235700]
synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672]
synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672]
xref: GARD:0003672 {source="MONDO:equivalentTo"}
xref: ICD10:D55.2 {source="Orphanet:90031", source="ORDO:90031/inclusion", source="ORDO:90031/ntbt"}
xref: MESH:C562995 {source="MONDO:equivalentTo"}
xref: OMIM:235700 {source="ORDO:90031/e", source="Orphanet:90031", source="MONDO:equivalentTo", source="GARD:0003672"}
xref: Orphanet:90031 {source="MONDO:equivalentTo", source="OMIM:235700", source="GARD:0003672"}
is_a: MONDO:0020106 {source="Orphanet:90031"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0472792
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150343
property_value: exactMatch http://identifiers.org/mesh/C562995
property_value: exactMatch http://identifiers.org/omim/235700
property_value: exactMatch Orphanet:90031
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency xsd:anyURI {source="GARD:0003672"}

[Term]
id: MONDO:0009341
name: Mowat-Wilson syndrome
def: "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations." [Orphanet:2152]
subset: gard_rare {source="GARD:0009673"}
subset: ordo_malformation_syndrome {source="Orphanet:2152"}
synonym: "Hirschsprung disease mental retardation syndrome" EXACT [DOID:0060485]
synonym: "Hirschsprung disease-intellectual disability syndrome" EXACT [Orphanet:2152]
synonym: "Hirschsprung disease-mental retardation syndrome" RELATED [OMIM:235730]
synonym: "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED [GARD:0009673]
synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT [DOID:0060485]
synonym: "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" RELATED [OMIM:235730]
synonym: "Mowat-Wilson syndrome" EXACT [MONDO:Lexical, OMIM:235730]
synonym: "Mowat-Wilson syndrome; MOWS" RELATED [OMIM:235730]
synonym: "MOWS" RELATED [MONDO:Lexical, OMIM:235730]
xref: DOID:0060485 {source="MONDO:equivalentTo"}
xref: GARD:0009673 {source="MONDO:equivalentTo"}
xref: ICD10:Q43.1 {source="ORDO:2152/attributed", source="ORDO:2152/ntbt", source="Orphanet:2152"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536990 {source="DOID:0060485", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2152/e", source="Orphanet:2152"}
xref: NCIT:C74999 {source="DOID:0060485", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:235730 {source="DOID:0060485", source="MONDO:equivalentTo", source="ORDO:2152/e", source="Orphanet:2152"}
xref: Orphanet:2152 {source="DOID:0060485", source="MONDO:equivalentTo", source="OMIM:235730"}
xref: SCTID:703535000 {source="DOID:0060485", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1856113 {source="DOID:0060485", source="NCIT:C74999", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235730", source="ORDO:2152/e", source="Orphanet:2152"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2152", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015212 {source="Orphanet:2152"} ! syndromic intestinal malformation
is_a: MONDO:0015653 {source="Orphanet:2152"} ! monogenic epilepsy
property_value: exactMatch DOID:0060485
property_value: exactMatch http://identifiers.org/mesh/C536990
property_value: exactMatch http://identifiers.org/omim/235730
property_value: exactMatch http://identifiers.org/snomedct/703535000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856113
property_value: exactMatch NCIT:C74999
property_value: exactMatch Orphanet:2152
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome xsd:anyURI {source="GARD:0009673"}

[Term]
id: MONDO:0009342
name: Hirschsprung disease-deafness-polydactyly syndrome
def: "Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (see this term; defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." [Orphanet:2155]
subset: ordo_malformation_syndrome {source="Orphanet:2155"}
synonym: "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" RELATED [GARD:0000157]
synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" RELATED [OMIM:235740]
synonym: "Hirschsprung disease, deafness and polydactyly" RELATED [GARD:0000157]
synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157]
synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155]
xref: GARD:0000157 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q43.1 {source="Orphanet:2155", source="ORDO:2155/attributed", source="ORDO:2155/ntbt"}
xref: MESH:C565518 {source="MONDO:equivalentTo"}
xref: OMIM:235740 {source="Orphanet:2155", source="ORDO:2155/e", source="MONDO:equivalentTo"}
xref: Orphanet:2155 {source="MONDO:equivalentTo", source="OMIM:235740"}
xref: SCTID:721221000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0015246 {source="Orphanet:2155"} ! syndromic anorectal malformation
is_a: MONDO:0019589 {source="Orphanet:2155"} ! syndromic genetic deafness
is_a: MONDO:0021189 {source="Orphanet:2155"} ! intestinal motility disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2155"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856112
property_value: exactMatch http://identifiers.org/mesh/C565518
property_value: exactMatch http://identifiers.org/omim/235740
property_value: exactMatch http://identifiers.org/snomedct/721221000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931452
property_value: exactMatch Orphanet:2155

[Term]
id: MONDO:0009343
name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
subset: gard_rare
synonym: "Hirschsprung disease polydactyly heart disease" RELATED [GARD:0002696]
synonym: "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" EXACT [GARD:0002696, OMIM:235750]
xref: GARD:0002696 {source="MONDO:equivalentTo"}
xref: MESH:C538120 {source="MONDO:equivalentTo"}
xref: MESH:C565517 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235750 {source="GARD:0002696", source="MONDO:equivalentTo"}
xref: UMLS:C1856111 {source="OMIM:235750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538120
property_value: exactMatch http://identifiers.org/mesh/C565517
property_value: exactMatch http://identifiers.org/omim/235750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease xsd:anyURI {source="GARD:0002696"}

[Term]
id: MONDO:0009344
name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
def: "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease (see this term), hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." [Orphanet:2153]
subset: ordo_malformation_syndrome {source="Orphanet:2153"}
synonym: "Al Gazali-Donnai-Muller syndrome" EXACT [Orphanet:2153]
synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584]
synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760]
synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584]
xref: GARD:0000584 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q43.1 {source="ORDO:2153/attributed", source="ORDO:2153/ntbt", source="Orphanet:2153"}
xref: MESH:C535615 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235760 {source="MONDO:equivalentTo", source="Orphanet:2153", source="ORDO:2153/e"}
xref: Orphanet:2153 {source="OMIM:235760", source="MONDO:equivalentTo"}
xref: SCTID:721223002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0015246 {source="Orphanet:2153"} ! syndromic anorectal malformation
is_a: MONDO:0019285 {source="Orphanet:2153"} ! syndromic nail anomaly
is_a: MONDO:0021189 {source="Orphanet:2153"} ! intestinal motility disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856110
property_value: exactMatch http://identifiers.org/mesh/C535615
property_value: exactMatch http://identifiers.org/omim/235760
property_value: exactMatch http://identifiers.org/snomedct/721223002
property_value: exactMatch Orphanet:2153

[Term]
id: MONDO:0009345
name: histidinemia
def: "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." [Orphanet:2157]
subset: gard_rare {source="GARD:0006661"}
subset: mostly_harmless {source="PMID:29884839"}
subset: ordo_disease {source="Orphanet:2157"}
synonym: "Hal deficiency" EXACT [Orphanet:2157]
synonym: "HIS deficiency" EXACT [Orphanet:2157]
synonym: "histidase deficiency" EXACT [OMIM:235800, Orphanet:2157]
synonym: "histidine ammonia-lyase deficiency" EXACT [OMIM:235800, Orphanet:2157]
synonym: "histidinemia" EXACT [OMIM:235800]
synonym: "Histidinuria" EXACT [Orphanet:2157]
synonym: "histidinuria" EXACT [DOID:0060168]
synonym: "hyperhistidinemia" EXACT [Orphanet:2157]
xref: DOID:0060168 {source="MONDO:equivalentTo"}
xref: GARD:0006661 {source="MONDO:equivalentTo"}
xref: ICD10:E70.41 {source="MONDO:equivalentTo"}
xref: ICD10:E70.8 {source="Orphanet:2157", source="ORDO:2157/attributed", source="ORDO:2157/ntbt"}
xref: MESH:C538320 {source="Orphanet:2157", source="ORDO:2157/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235800 {source="Orphanet:2157", source="ORDO:2157/e", source="MONDO:equivalentTo"}
xref: Orphanet:2157 {source="MONDO:equivalentTo", source="OMIM:235800"}
xref: SCTID:410058007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
xref: UMLS:C0220992 {source="Orphanet:2157", source="ORDO:2157/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235800"}
is_a: MONDO:0004738 {source="DOID:0060168"} ! histidine metabolism disease
property_value: exactMatch DOID:0060168
property_value: exactMatch http://identifiers.org/mesh/C538320
property_value: exactMatch http://identifiers.org/omim/235800
property_value: exactMatch http://identifiers.org/snomedct/410058007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220992
property_value: exactMatch Orphanet:2157
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6661/histidinemia xsd:anyURI {source="GARD:0006661"}

[Term]
id: MONDO:0009346
name: histidinuria due to a renal tubular defect
subset: ordo_disease
synonym: "histidinuria due to a renal tubular defect" EXACT [OMIM:235830]
synonym: "histidinuria-renal tubular defect syndrome" EXACT [Orphanet:2158]
xref: GARD:0002708 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E70.8 {source="MONDO:subClassOf", source="ORDO:Attributed", source="Orphanet:2158"}
xref: MESH:C538321 {source="Orphanet:2158", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235830 {source="Orphanet:2158", source="MONDO:equivalentTo"}
xref: Orphanet:2158 {source="MONDO:equivalentTo", source="OMIM:235830"}
xref: UMLS:C0268642 {source="NCBI:mim2gene_medline", source="Orphanet:2158", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="OMIM:235830"}
is_a: MONDO:0009345 ! histidinemia
is_a: MONDO:0019228 {source="Orphanet:2158"} ! inborn disorder of histidine metabolism
intersection_of: MONDO:0009345 ! histidinemia
intersection_of: disease_arises_from_feature MONDO:0021568 ! renal tubule disease
relationship: disease_arises_from_feature MONDO:0021568 ! renal tubule disease
property_value: exactMatch http://identifiers.org/mesh/C538321
property_value: exactMatch http://identifiers.org/omim/235830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268642
property_value: exactMatch Orphanet:2158

[Term]
id: MONDO:0009347
name: familial lipochrome histiocytosis
synonym: "histiocytosis, familial lipochrome" RELATED [OMIM:235900]
xref: MESH:C562738 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:235900 {source="MONDO:equivalentTo"}
xref: SCTID:234577004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C0334125 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235900"}
is_a: MONDO:0003847 {source="MESH:C562738"} ! Mendelian disease
is_a: MONDO:0024627 {source="linkedlifedata"} ! phagocytic cell dysfunction
property_value: exactMatch http://identifiers.org/mesh/C562738
property_value: exactMatch http://identifiers.org/omim/235900
property_value: exactMatch http://identifiers.org/snomedct/234577004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334125

[Term]
id: MONDO:0009348
name: classic Hodgkin lymphoma
def: "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." [Orphanet:391]
subset: ordo_disease {source="Orphanet:391"}
synonym: "Chl" RELATED [MONDO:Lexical, OMIM:236000]
synonym: "classic Hodgkin disease" EXACT [Orphanet:391]
synonym: "classical Hodgkin lymphoma" EXACT [NCIT:C7164]
synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164]
synonym: "Hodgkin disease" RELATED [OMIM:236000]
synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000]
synonym: "lymphoma, Hodgkin, classic; Chl" RELATED [OMIM:236000]
xref: ICD10:C81.0 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.1 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.2 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.3 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.4 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.7 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: ICD10:C81.9 {source="ORDO:391/btnt", source="Orphanet:391"}
xref: NCIT:C7164 {source="MONDO:equivalentTo"}
xref: OMIM:236000 {source="ORDO:391/e", source="MONDO:equivalentTo", source="Orphanet:391"}
xref: ONCOTREE:CHL {source="MONDO:equivalentTo"}
xref: Orphanet:391 {source="OMIM:236000", source="MONDO:equivalentTo"}
xref: UMLS:CN204952 {source="MONDO:equivalentTo"}
is_a: MONDO:0004952 {source="DC-OMIM:236000", source="MONDOLEX:0009348", source="NCIT:C7164", source="ONCOTREE:CHL", source="Orphanet:391"} ! Hodgkins lymphoma
disjoint_from: MONDO:0044778 ! nodular lymphocyte predominant Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019829
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333064
property_value: exactMatch http://identifiers.org/omim/236000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204952
property_value: exactMatch NCIT:C7164
property_value: exactMatch Orphanet:391

[Term]
id: MONDO:0009349
name: holoprosencephaly 1
def: "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." [NCIT:C75476]
subset: ordo_morphological_anomaly {source="Orphanet:268936"}
synonym: "arhinencephaly" RELATED [OMIM:236100]
synonym: "cyclopia" BROAD [OMIM:236100]
synonym: "Demyer sequence" RELATED [OMIM:236100]
synonym: "holoprosencephaly 1" EXACT [MONDO:Lexical, OMIM:236100]
synonym: "holoprosencephaly 1; HPE1" RELATED [OMIM:236100]
synonym: "holoprosencephaly type 1" EXACT [DOID:0110881, MONDORULE:1]
synonym: "holoprosencephaly, familial Alobar" RELATED [OMIM:236100]
synonym: "Hpe, familial" BROAD [OMIM:236100]
synonym: "HPE1" EXACT [DOID:0110881, MONDO:Lexical, OMIM:236100]
synonym: "isolated arhinencephaly" RELATED [Orphanet:268936]
xref: DOID:0110881 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.1 {source="ORDO:268936/e", source="Orphanet:268936"}
xref: NCIT:C75476 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.82/0.11"}
xref: OMIM:236100 {source="MONDO:equivalentTo", source="DOID:0110881"}
xref: Orphanet:268936 {source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="DC-OMIM:236100", source="DOID:0110881", source="NCIT:C75476", source="OMIM:236100"} ! holoprosencephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0078982
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266667
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856096
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749603
property_value: exactMatch DOID:0110881
property_value: exactMatch http://identifiers.org/omim/236100
property_value: exactMatch NCIT:C75476
property_value: exactMatch Orphanet:268936

[Term]
id: MONDO:0009350
name: Holzgreve-Wagner-Rehder syndrome
def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." [DOID:0060566, PMID:3232694]
subset: ordo_malformation_syndrome {source="Orphanet:2167"}
synonym: "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" EXACT [Orphanet:2167]
synonym: "Complex congenital heart defect, renal agenesis and cleft lip and palate" RELATED [GARD:0002728]
synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110]
synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566]
xref: DOID:0060566 {source="MONDO:equivalentTo"}
xref: GARD:0002728 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2167", source="DOID:0060566", source="ORDO:2167/attributed", source="ORDO:2167/ntbt"}
xref: MESH:C535327 {source="ORDO:2167/e", source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="MONDO:ontobio"}
xref: OMIM:236110 {source="ORDO:2167/e", source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566"}
xref: Orphanet:2167 {source="OMIM:236110", source="MONDO:equivalentTo"}
xref: UMLS:C1856095 {source="ORDO:2167/e", source="OMIM:236110", source="Orphanet:2167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060566"}
is_a: MONDO:0002254 {source="DOID:0060566", source="MONDOLEX:0009350"} ! syndromic disease
is_a: MONDO:0015335 {source="Orphanet:2167"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2167"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060566
property_value: exactMatch http://identifiers.org/mesh/C535327
property_value: exactMatch http://identifiers.org/omim/236110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856095
property_value: exactMatch Orphanet:2167

[Term]
id: MONDO:0009351
name: homocarnosinosis
def: "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." [Orphanet:2168]
subset: ordo_disease {source="Orphanet:2168"}
synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168]
synonym: "homocarnosinosis" EXACT [OMIM:236130]
xref: DOID:0060177 {source="MONDO:equivalentTo"}
xref: GARD:0002730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:2168", source="ORDO:2168/attributed", source="ORDO:2168/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535328 {source="Orphanet:2168", source="ORDO:2168/e", source="MONDO:equivalentTo"}
xref: OMIM:236130 {source="Orphanet:2168", source="ORDO:2168/e", source="MONDO:equivalentTo"}
xref: Orphanet:2168 {source="OMIM:236130", source="MONDO:equivalentTo"}
xref: SCTID:61764000 {source="MONDO:kboom-pr-0.88/0.74/0.23", source="MONDO:equivalentTo"}
xref: UMLS:C0268632 {source="OMIM:236130", source="Orphanet:2168", source="ORDO:2168/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C3495554 {source="Orphanet:2168", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0000698 {source="DOID:0060177"} ! gamma-amino butyric acid metabolism disorder
is_a: MONDO:0019232 {source="Orphanet:2168"} ! inborn disorder of peptide metabolism
property_value: exactMatch DOID:0060177
property_value: exactMatch http://identifiers.org/mesh/C535328
property_value: exactMatch http://identifiers.org/omim/236130
property_value: exactMatch http://identifiers.org/snomedct/61764000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495554
property_value: exactMatch Orphanet:2168

[Term]
id: MONDO:0009352
name: classic homocystinuria
def: "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." [Orphanet:394]
subset: gard_rare
subset: ordo_disease {source="Orphanet:394"}
synonym: "CBS deficiency" RELATED [GARD:0006667, OMIM:236200]
synonym: "cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394]
synonym: "homocystinuria due to CBS deficiency" RELATED [GARD:0006667]
synonym: "homocystinuria due to cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394]
synonym: "homocystinuria with or without response to pyridoxine" RELATED [OMIM:236200]
synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200]
xref: GARD:0006667 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:394/ntbt", source="Orphanet:394", source="ORDO:394/inclusion"}
xref: MedDRA:10071093 {source="ORDO:394/e", source="Orphanet:394"}
xref: OMIM:236200 {source="GARD:0006667", source="MONDO:equivalentTo", source="ORDO:394/e", source="Orphanet:394"}
xref: Orphanet:394 {source="GARD:0006667", source="OMIM:236200", source="MONDO:equivalentTo"}
xref: SCTID:24308003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.18"}
xref: UMLS:C0751202 {source="MEDGEN:kboom-pr97-c98", source="GARD:0006667", source="MONDO:equivalentTo", source="ORDO:394/e", source="Orphanet:394"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004737 {source="DC-OMIM:236200"} ! homocystinuria (disease)
is_a: MONDO:0015218 {source="Orphanet:394"} ! syndromic developmental defect of the eye
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:394"} ! developmental anomaly of metabolic origin
is_a: MONDO:0016399 {source="Orphanet:394"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:394"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0020222 {source="Orphanet:394"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020236 {source="Orphanet:394"} ! lens position anomaly
is_a: MONDO:0020280 {source="Orphanet:394"} ! metabolic disease with cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1439329
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150344
property_value: exactMatch http://identifiers.org/meddra/10071093
property_value: exactMatch http://identifiers.org/omim/236200
property_value: exactMatch http://identifiers.org/snomedct/24308003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751202
property_value: exactMatch Orphanet:394
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency xsd:anyURI {source="GARD:0006667"}

[Term]
id: MONDO:0009353
name: homocystinuria due to methylene tetrahydrofolate reductase deficiency
def: "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." [Orphanet:395]
subset: ordo_disease {source="Orphanet:395"}
synonym: "5,10 alpha methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "5,10-alpha-methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity" RELATED [OMIM:236250]
synonym: "homocystinuria due to MTHFR deficiency" RELATED [GARD:0002734]
synonym: "methylene tetrahydrofolate reductase deficiency" EXACT [Orphanet:395]
synonym: "Methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250]
synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395]
synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250]
xref: GARD:0002734 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="ORDO:395/ntbt", source="Orphanet:395", source="ORDO:395/inclusion"}
xref: OMIM:236250 {source="MONDO:equivalentTo", source="ORDO:395/e", source="Orphanet:395"}
xref: Orphanet:395 {source="MONDO:equivalentTo", source="OMIM:236250"}
xref: SCTID:41797007 {source="MONDO:kboom-pr-1.00/0.79/8.20", source="MONDO:equivalentTo"}
is_a: MONDO:0004737 {source="DC-OMIM:236250"} ! homocystinuria (disease)
is_a: MONDO:0016133 {source="Orphanet:395"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017313 {source="Orphanet:395"} ! disorder of folate metabolism and transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856058
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856059
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856061
property_value: exactMatch http://identifiers.org/omim/236250
property_value: exactMatch http://identifiers.org/snomedct/41797007
property_value: exactMatch Orphanet:395

[Term]
id: MONDO:0009354
name: methylcobalamin deficiency type cblE
def: "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." [NCIT:C142173]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:2169"}
synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169]
synonym: "HMAE" RELATED [MONDO:Lexical, OMIM:236270]
synonym: "homocystinuria due to defect in methylation Cbl e" RELATED [GARD:0002732]
synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [OMIM:236270]
synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical, OMIM:236270]
synonym: "homocystinuria-megaloblastic anemia, cblE complementation type; HMAE" RELATED [OMIM:236270]
synonym: "methylcobalamin deficiency, cblE type" RELATED [OMIM:236270]
synonym: "methylmalonic aciduria and homocystinuria type cblE" RELATED [DOID:0050732]
synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270]
xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"}
xref: EFO:0005568 {source="MONDO:equivalentTo"}
xref: GARD:0002732 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="Orphanet:2169", source="ORDO:2169/attributed", source="ORDO:2169/ntbt"}
xref: MESH:C565510 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142173 {source="MONDO:equivalentTo"}
xref: OMIM:236270 {source="ORDO:2169/e", source="Orphanet:2169", source="MONDO:equivalentTo"}
xref: Orphanet:2169 {source="MONDO:equivalentTo", source="OMIM:236270"}
xref: UMLS:C1856057 {source="NCBI:mim2gene_medline", source="Orphanet:2169", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:236270"}
is_a: MONDO:0018964 {source="MONDO:cjm", source="MONDOLEX:0009354", source="Orphanet:2169"} ! homocystinuria without methylmalonic aciduria
relationship: excluded_subClassOf MONDO:0002012 {source="DOID:0050732"} ! methylmalonic acidemia
property_value: exactMatch DOID:0050732
property_value: exactMatch http://identifiers.org/mesh/C565510
property_value: exactMatch http://identifiers.org/omim/236270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856057
property_value: exactMatch NCIT:C142173
property_value: exactMatch Orphanet:2169

[Term]
id: MONDO:0009355
name: Hooft disease
subset: gard_rare {source="GARD:0009702"}
synonym: "delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids" RELATED [GARD:0009702]
synonym: "Hooft disease" EXACT [OMIM:236300]
xref: GARD:0009702 {source="MONDO:equivalentTo"}
xref: MESH:C535329 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236300 {source="MONDO:equivalentTo"}
xref: UMLS:C0268479 {source="OMIM:236300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535329
property_value: exactMatch http://identifiers.org/omim/236300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268479
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9702/hooft-disease xsd:anyURI {source="GARD:0009702"}

[Term]
id: MONDO:0009356
name: autosomal recessive humeroradial synostosis
def: "Autosomal recessive form of humeroradial synostosis (disease)." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive humeroradial synostosis (disease)" EXACT []
synonym: "humeroradial synostosis" RELATED [OMIM:236400]
synonym: "humeroradial synostosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "humeroradial/multiple synostosis syndrome" RELATED [OMIM:236400]
xref: OMIM:236400 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0007737 {source="DC-OMIM:236400", source="MONDO:Redundant", source="MONDOLEX:0009356"} ! humeroradial synostosis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930865
property_value: exactMatch http://identifiers.org/omim/236400

[Term]
id: MONDO:0009357
name: humeroradial synostosis with craniofacial anomalies
synonym: "humeroradial synostosis with craniofacial anomalies" EXACT [OMIM:236410]
xref: MESH:C566888 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236410 {source="MONDO:equivalentTo"}
xref: UMLS:C1968717 {source="OMIM:236410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007737 {source="MONDO:cjm", source="MONDOLEX:0009357"} ! humeroradial synostosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C566888
property_value: exactMatch http://identifiers.org/omim/236410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968717

[Term]
id: MONDO:0009358
name: Hutterite cerebroosteonephrodysplasia syndrome
subset: gard_rare {source="GARD:0009956"}
synonym: "cerebroosteonephosis syndrome" RELATED [OMIM:236450]
synonym: "cond" RELATED [OMIM:236450]
synonym: "Hutterite cerebroosteonephrodysplasia syndrome" EXACT [OMIM:236450]
xref: GARD:0009956 {source="MONDO:equivalentTo"}
xref: MESH:C536074 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236450 {source="MONDO:equivalentTo"}
xref: UMLS:C1856054 {source="OMIM:236450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536074
property_value: exactMatch http://identifiers.org/omim/236450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856054
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome xsd:anyURI {source="GARD:0009956"}

[Term]
id: MONDO:0009359
name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
subset: ordo_malformation_syndrome
synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [OMIM:236500]
synonym: "MARCH" RELATED [OMIM:236500]
synonym: "MARCH syndrome" EXACT [Orphanet:500135]
synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [OMIM:236500]
synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly; MARCH" RELATED [OMIM:236500]
xref: DOID:0080327 {source="MONDO:equivalentTo"}
xref: MESH:C565507 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236500 {source="Orphanet:500135", source="MONDO:equivalentTo", source="DOID:0080327"}
xref: Orphanet:500135 {source="MONDO:equivalentTo"}
xref: UMLS:C1856053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:236500"}
is_a: MONDO:0006025 {source="DOID:0080327"} ! autosomal recessive disease
is_a: MONDO:0015620 {source="Orphanet:500135"} ! syndromic urogenital tract malformation
is_a: MONDO:0017120 {source="Orphanet:500135"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:500135"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:500135"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080327
property_value: exactMatch http://identifiers.org/mesh/C565507
property_value: exactMatch http://identifiers.org/omim/236500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856053
property_value: exactMatch Orphanet:500135

[Term]
id: MONDO:0009360
name: hydrocephalus, nonsyndromic, autosomal recessive 1
def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC88C congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital hydrocephalus caused by mutation in CCDC88C" EXACT [MONDO:design_pattern]
synonym: "HYC1" RELATED [MONDO:Lexical, OMIM:236600]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:236600]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1; HYC1" RELATED [OMIM:236600]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:236600]
synonym: "hydrocephaly" RELATED [OMIM:236600]
synonym: "ventriculomegaly" RELATED [OMIM:236600]
xref: GARD:0006682 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:236600 {source="MONDO:equivalentTo"}
xref: UMLS:C3887608 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016349 {source="MONDO:Redundant", source="ORDO:2185/btnt"} ! congenital hydrocephalus
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020255
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1531647
property_value: exactMatch http://identifiers.org/omim/236600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887608

[Term]
id: MONDO:0009361
name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
synonym: "aqueductal stenosis" RELATED [OMIM:236635]
synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" EXACT [OMIM:236635]
xref: OMIM:236635 {source="MONDO:equivalentTo"}
xref: UMLS:CN074258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0010611 {source="MONDOLEX:0009361"} ! X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
property_value: exactMatch http://identifiers.org/omim/236635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074258

[Term]
id: MONDO:0009362
name: growth delay-hydrocephaly-lung hypoplasia syndrome
def: "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." [Orphanet:3035]
subset: ordo_malformation_syndrome {source="Orphanet:3035"}
synonym: "game Friedman Paradice syndrome" RELATED [GARD:0002427]
synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035]
synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640]
synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427]
xref: GARD:0002427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3035", source="ORDO:3035/attributed", source="ORDO:3035/ntbt"}
xref: MESH:C535406 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236640 {source="Orphanet:3035", source="ORDO:3035/e", source="MONDO:equivalentTo"}
xref: Orphanet:3035 {source="OMIM:236640", source="MONDO:equivalentTo"}
xref: SCTID:716198008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:C1856052 {source="Orphanet:3035", source="NCBI:mim2gene_medline", source="OMIM:236640", source="MONDO:equivalentTo"}
is_a: MONDO:0015222 {source="Orphanet:3035"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:3035"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/mesh/C535406
property_value: exactMatch http://identifiers.org/omim/236640
property_value: exactMatch http://identifiers.org/snomedct/716198008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856052
property_value: exactMatch Orphanet:3035

[Term]
id: MONDO:0009363
name: hydrocephaly-tall stature-joint laxity syndrome
def: "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." [Orphanet:2181]
subset: ordo_malformation_syndrome {source="Orphanet:2181"}
synonym: "Daish Hardman Lamont syndrome" RELATED [GARD:0001666]
synonym: "Daish-Hardman-Lamont syndrome" EXACT [Orphanet:2181]
synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED [GARD:0001666]
synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660]
synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666]
xref: GARD:0001666 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2181/attributed", source="ORDO:2181/ntbt", source="Orphanet:2181"}
xref: MESH:C535770 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236660 {source="MONDO:equivalentTo", source="ORDO:2181/e", source="Orphanet:2181"}
xref: Orphanet:2181 {source="OMIM:236660", source="MONDO:equivalentTo"}
xref: SCTID:732926009 {source="MONDO:equivalentTo"}
xref: UMLS:C1856051 {source="OMIM:236660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2181/e", source="Orphanet:2181"}
is_a: MONDO:0043008 {source="Orphanet:2181"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535770
property_value: exactMatch http://identifiers.org/omim/236660
property_value: exactMatch http://identifiers.org/snomedct/732926009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856051
property_value: exactMatch Orphanet:2181

[Term]
id: MONDO:0009364
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." [NCIT:C128118]
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" RELATED [OMIM:236670]
synonym: "cod-MD syndrome" RELATED [OMIM:236670]
synonym: "hard syndrome" RELATED [OMIM:236670]
synonym: "hydrocephalus, agyria, and retinal dysplasia" RELATED [OMIM:236670]
synonym: "MDDGA1" RELATED [MONDO:Lexical, OMIM:236670]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1" EXACT [NCIT:C128118]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" RELATED [MONDO:Lexical, OMIM:236670]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; MDDGA1" RELATED [OMIM:236670]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related" RELATED [OMIM:236670]
xref: NCIT:C128118 {source="MONDO:kboom-pr-1.00/0.75/6.50", source="MONDO:equivalentTo"}
xref: OMIM:236670 {source="MONDO:equivalentTo"}
xref: UMLS:C4284790 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN033898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000171 {source="DC-OMIM:236670", source="OMIM:236670"} ! muscular dystrophy-dystroglycanopathy, type A
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265221
property_value: exactMatch http://identifiers.org/omim/236670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033898
property_value: exactMatch NCIT:C128118

[Term]
id: MONDO:0009365
name: hydrolethalus syndrome 1
def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLS1" RELATED [MONDO:Lexical, OMIM:236680]
synonym: "hydrolethalus syndrome 1" EXACT [MONDO:Lexical, OMIM:236680]
synonym: "hydrolethalus syndrome 1; HLS1" RELATED [OMIM:236680]
synonym: "hydrolethalus syndrome caused by mutation in HYLS1" EXACT [MONDO:design_pattern]
synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1, OMIM:236680]
synonym: "HYLS1 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565504 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236680 {source="MONDO:equivalentTo"}
xref: UMLS:C1856016 {source="OMIM:236680", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006037 {source="DC-OMIM:236680", source="MONDO:Redundant", source="OMIM:236680"} ! hydrolethalus syndrome
property_value: exactMatch http://identifiers.org/mesh/C565504
property_value: exactMatch http://identifiers.org/omim/236680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856016

[Term]
id: MONDO:0009366
name: normal pressure hydrocephalus
def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850]
subset: ordo_disease {source="Orphanet:314928"}
synonym: "chronic adult hydrocephalus" EXACT [Orphanet:314928]
synonym: "hydrocephalus, normal-pressure" RELATED [OMIM:236690]
synonym: "low pressure hydrocephalus" EXACT [DOID:1572]
synonym: "NPH" EXACT [Orphanet:314928]
xref: COHD:432899 {source="MONDO:equivalentTo"}
xref: DOID:1572 {source="EFO:1001065", source="MONDO:equivalentTo"}
xref: EFO:1001065 {source="MONDO:equivalentTo"}
xref: ICD10:G91.2 {source="DOID:1572", source="Orphanet:314928", source="ORDO:314928/e"}
xref: ICD9:331.5 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10029773 {source="EFO:1001065", source="Orphanet:314928", source="ORDO:314928/e"}
xref: MESH:D006850 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236690 {source="DOID:1572", source="MONDO:equivalentTo"}
xref: Orphanet:314928 {source="MONDO:equivalentTo"}
xref: SCTID:30753002 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0020258 {source="DOID:1572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:314928", source="ORDO:314928/e", source="OMIM:236690"}
is_a: MONDO:0002045 {source="DOID:1572", source="linkedlifedata", source="linkedlifedata/inferred"} ! communicating hydrocephalus
property_value: closeMatch http://identifiers.org/snomedct/69663004
property_value: exactMatch DOID:1572
property_value: exactMatch http://identifiers.org/meddra/10029773
property_value: exactMatch http://identifiers.org/mesh/D006850
property_value: exactMatch http://identifiers.org/omim/236690
property_value: exactMatch http://identifiers.org/snomedct/30753002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020258
property_value: exactMatch Orphanet:314928

[Term]
id: MONDO:0009367
name: McKusick-Kaufman syndrome
def: "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." [Orphanet:2473]
subset: gard_rare {source="GARD:0003427"}
subset: ordo_malformation_syndrome {source="Orphanet:2473"}
synonym: "HMCS" RELATED [GARD:0003427]
synonym: "hydrometrocolpos syndrome" RELATED [OMIM:236700]
synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" RELATED [OMIM:236700]
synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [Orphanet:2473]
synonym: "Kaufman McKusick syndrome" RELATED [GARD:0003427]
synonym: "Kaufman-Mckusick syndrome" EXACT [OMIM:236700, Orphanet:2473]
synonym: "McKusick Kaufman syndrome" RELATED [GARD:0003427]
synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700]
synonym: "MCKUSICK-Kaufman syndrome; MKKS" RELATED [OMIM:236700]
synonym: "MKKS" RELATED [MONDO:Lexical, OMIM:236700]
xref: GARD:0003427 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2473", source="ORDO:2473/attributed", source="ORDO:2473/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10052312 {source="Orphanet:2473", source="ORDO:2473/e"}
xref: MESH:C538159 {source="Orphanet:2473", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2473/e"}
xref: OMIM:236700 {source="Orphanet:2473", source="MONDO:equivalentTo", source="ORDO:2473/e"}
xref: Orphanet:2473 {source="MONDO:equivalentTo", source="OMIM:236700"}
xref: SCTID:702407009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C0948368 {source="Orphanet:2473", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:236700", source="ORDO:2473/e"}
is_a: MONDO:0043008 {source="Orphanet:2473"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/meddra/10052312
property_value: exactMatch http://identifiers.org/mesh/C538159
property_value: exactMatch http://identifiers.org/omim/236700
property_value: exactMatch http://identifiers.org/snomedct/702407009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948368
property_value: exactMatch Orphanet:2473
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome xsd:anyURI {source="GARD:0003427"}

[Term]
id: MONDO:0009368
name: urofacial syndrome type 1
synonym: "facial palsy, partial, with urinary abnormalities" RELATED [OMIM:236730]
synonym: "hydronephrosis with peculiar Facial expression" RELATED [OMIM:236730]
synonym: "inverted smile and occult neuropathic bladder" RELATED [OMIM:236730]
synonym: "Ochoa syndrome" RELATED [OMIM:236730]
synonym: "UFS1" RELATED [MONDO:Lexical, OMIM:236730]
synonym: "urofacial syndrome" RELATED [OMIM:236730]
synonym: "urofacial syndrome 1" RELATED [MONDO:Lexical, OMIM:236730]
synonym: "urofacial syndrome 1; UFS1" RELATED [OMIM:236730]
synonym: "urofacial syndrome type 1" EXACT [MONDORULE:1, OMIM:236730]
xref: OMIM:236730 {source="MONDO:equivalentTo", source="Orphanet:2704"}
is_a: MONDO:0000463 {source="DC-OMIM:236730", source="OMIM:236730"} ! Ochoa syndrome
property_value: exactMatch http://identifiers.org/omim/236730

[Term]
id: MONDO:0009369
name: non-immune hydrops fetalis
def: "Non-immune hydrops fetalis (NIHF), a form of HF (see this term), is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." [Orphanet:363999]
subset: ordo_clinical_subtype {source="Orphanet:363999"}
synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [OMIM:236750]
synonym: "hydrops fetalis, Alpha-thalassemia-related" RELATED [OMIM:236750]
synonym: "hydrops fetalis, nonimmune" RELATED [MONDO:Lexical, OMIM:236750]
synonym: "hydrops fetalis, nonimmune; NIHF" RELATED [OMIM:236750]
synonym: "NIHF" RELATED [MONDO:Lexical, OMIM:236750]
synonym: "non-immune fetal edema" EXACT [Orphanet:363999]
synonym: "non-immune fetal hydrops" EXACT [Orphanet:363999]
synonym: "non-immune HF" EXACT [Orphanet:363999]
xref: EFO:0009051 {source="MONDO:equivalentTo"}
xref: ICD10:P56.9 {source="ORDO:363999/btnt", source="Orphanet:363999"}
xref: ICD10:P83.2 {source="ORDO:363999/btnt", source="Orphanet:363999"}
xref: ICD9:778.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C111905 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:236750 {source="MONDO:equivalentTo", source="Orphanet:363999", source="ORDO:363999/e"}
xref: Orphanet:363999 {source="OMIM:236750", source="MONDO:equivalentTo"}
xref: SCTID:276509008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0455988 {source="NCIT:C111905", source="NCBI:mim2gene_medline", source="OMIM:236750", source="MONDO:equivalentTo", source="Orphanet:363999"}
is_a: MONDO:0015193 {source="NCIT:C111905", source="Orphanet:363999", source="linkedlifedata"} ! hydrops fetalis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278364
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278365
property_value: exactMatch http://identifiers.org/omim/236750
property_value: exactMatch http://identifiers.org/snomedct/276509008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0455988
property_value: exactMatch NCIT:C111905
property_value: exactMatch Orphanet:363999

[Term]
id: MONDO:0009370
name: L-2-hydroxyglutaric aciduria
def: "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." [Orphanet:79314]
subset: gard_rare {source="GARD:0010472"}
subset: ordo_disease {source="Orphanet:79314"}
synonym: "L-2-HGA" EXACT [Orphanet:79314]
synonym: "L-2-hydroxyglutaric acidemia" EXACT [DOID:0050574, OMIM:236792, Orphanet:79314]
synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792]
synonym: "L-2-hydroxyglutaric aciduria; L2HGA" RELATED [OMIM:236792]
synonym: "L2HGA" RELATED [MONDO:Lexical, OMIM:236792]
xref: DOID:0050574 {source="MONDO:equivalentTo"}
xref: GARD:0010472 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="Orphanet:79314", source="ORDO:79314/attributed", source="ORDO:79314/ntbt"}
xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="ORDO:79314/e"}
xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"}
xref: SCTID:237961001 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C1855995 {source="Orphanet:79314", source="OMIM:236792", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C3888081 {source="Orphanet:79314", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016001 {source="DOID:0050574", source="Orphanet:79314", source="linkedlifedata"} ! 2-hydroxyglutaric aciduria
property_value: exactMatch DOID:0050574
property_value: exactMatch http://identifiers.org/omim/236792
property_value: exactMatch http://identifiers.org/snomedct/237961001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888081
property_value: exactMatch Orphanet:79314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria xsd:anyURI {source="GARD:0010472"}

[Term]
id: MONDO:0009371
name: 3-hydroxyisobutyric aciduria
def: "3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." [Orphanet:939]
subset: gard_rare {source="GARD:0005662"}
subset: ordo_disease {source="Orphanet:939"}
synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795]
synonym: "disorder of valine metabolism" RELATED [GARD:0005662]
xref: GARD:0005662 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:939/attributed", source="ORDO:939/ntbt", source="Orphanet:939"}
xref: ICD9:791.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535312 {source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939", source="MONDO:ontobio"}
xref: OMIM:236795 {source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939"}
xref: Orphanet:939 {source="OMIM:236795", source="MONDO:equivalentTo"}
xref: SCTID:237957007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/2.05"}
xref: UMLS:C0342737 {source="OMIM:236795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939"}
is_a: MONDO:0019215 {source="Orphanet:939"} ! classic organic aciduria
is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism
is_a: MONDO:0037870 ! valine metabolism disease
property_value: exactMatch http://identifiers.org/mesh/C535312
property_value: exactMatch http://identifiers.org/omim/236795
property_value: exactMatch http://identifiers.org/snomedct/237957007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342737
property_value: exactMatch Orphanet:939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria xsd:anyURI {source="GARD:0005662"}

[Term]
id: MONDO:0009372
name: encephalopathy due to hydroxykynureninuria
def: "Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." [Orphanet:79155]
subset: ordo_disease {source="Orphanet:79155"}
synonym: "hydroxykynureninuria" RELATED [OMIM:236800]
synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155]
synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800]
synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155]
xref: GARD:0010039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.8 {source="ORDO:79155/attributed", source="ORDO:79155/ntbt", source="Orphanet:79155"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536081 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236800 {source="MONDO:equivalentTo", source="ORDO:79155/e", source="Orphanet:79155"}
xref: Orphanet:79155 {source="MONDO:equivalentTo", source="OMIM:236800"}
xref: SCTID:72945002 {source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C0268474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79155", source="OMIM:236800"}
is_a: MONDO:0017350 {source="Orphanet:79155", source="linkedlifedata"} ! inborn disorder of tryptophan metabolism
is_a: MONDO:0019058 {source="Orphanet:79155"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C536081
property_value: exactMatch http://identifiers.org/omim/236800
property_value: exactMatch http://identifiers.org/snomedct/72945002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268474
property_value: exactMatch Orphanet:79155

[Term]
id: MONDO:0009373
name: seizures-intellectual disability due to hydroxylysinuria syndrome
def: "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." [Orphanet:79156]
subset: ordo_disease {source="Orphanet:79156"}
synonym: "hydroxylysinuria" RELATED [OMIM:236900]
xref: ICD10:E72.3 {source="MONDO:subClassOf", source="ORDO:79156/attributed", source="ORDO:79156/ntbt", source="Orphanet:79156"}
xref: MESH:C565502 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:236900 {source="MONDO:equivalentTo", source="ORDO:79156/e", source="Orphanet:79156"}
xref: Orphanet:79156 {source="MONDO:equivalentTo", source="OMIM:236900"}
xref: UMLS:C1855986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:236900"}
is_a: MONDO:0017351 {source="Orphanet:79156"} ! inborn disorder of lysine and hydroxylysine metabolism
property_value: exactMatch http://identifiers.org/mesh/C565502
property_value: exactMatch http://identifiers.org/omim/236900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855986
property_value: exactMatch Orphanet:79156

[Term]
id: MONDO:0009374
name: hydroxyprolinemia (disease)
subset: mostly_harmless {source="PMID:29884839"}
synonym: "4 alpha hydroxy-L-proline oxidase deficiency" RELATED [GARD:0010717]
synonym: "4-hydroxy-L-proline oxidase deficiency" RELATED [OMIM:237000]
synonym: "HYDROXYPROLINEMIA" RELATED [OMIM:237000]
synonym: "Hydroxyprolinemia" EXACT [MONDO:ambiguous]
xref: GARD:0010717 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0003260 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562669 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:237000 {source="MONDO:equivalentTo"}
xref: SCTID:25739007 {source="MONDO:kboom-pr-0.99/0.73/5.15", source="MONDO:equivalentTo"}
xref: UMLS:C0268531 {source="OMIM:237000", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562669/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562669
property_value: exactMatch http://identifiers.org/omim/237000
property_value: exactMatch http://identifiers.org/snomedct/25739007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268531

[Term]
id: MONDO:0009375
name: hymen, imperforate
synonym: "hymen, imperforate" EXACT [OMIM:237100]
xref: COHD:193587 {source="MONDO:equivalentTo"}
xref: ICD10:Q52.3 {source="MONDO:equivalentTo"}
xref: ICD9:752.42 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562397 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:237100 {source="MONDO:equivalentTo"}
xref: SCTID:65937002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152436
property_value: exactMatch http://identifiers.org/mesh/C562397
property_value: exactMatch http://identifiers.org/omim/237100
property_value: exactMatch http://identifiers.org/snomedct/65937002

[Term]
id: MONDO:0009376
name: carbamoyl phosphate synthetase I deficiency disease
def: "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." [Orphanet:147]
subset: ordo_disease {source="Orphanet:147"}
synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [OMIM:237300]
synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [OMIM:237300]
synonym: "carbamoyl phosphate synthetase deficiency" EXACT [NCIT:C84612]
synonym: "carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" RELATED [OMIM:237300]
synonym: "carbamoyl-phosphate synthase" EXACT [NCIT:C84612]
synonym: "carbamoyl-phosphate synthetase 1 deficiency" RELATED [Orphanet:147]
synonym: "carbamoyl-phosphate synthetase deficiency" EXACT [Orphanet:147]
synonym: "carbamoyl-phosphate synthetase I deficiency" EXACT [Orphanet:147]
synonym: "carbamyl phosphate synthetase (CPS) deficiency" RELATED [GARD:0007269]
synonym: "CPS 1 deficiency" RELATED [OMIM:237300]
synonym: "CPS I deficiency" EXACT [DOID:9280]
synonym: "CPS1 deficiency" EXACT [Orphanet:147]
synonym: "CPS1D" EXACT [Orphanet:147]
synonym: "deficiency disease" EXACT [NCIT:C84612]
synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" RELATED [GARD:0007269]
xref: DOID:9280 {source="EFO:0007193", source="MONDO:equivalentTo"}
xref: EFO:0007193 {source="MONDO:equivalentTo"}
xref: GARD:0007269 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.2 {source="Orphanet:147", source="ORDO:147/attributed", source="ORDO:147/ntbt"}
xref: MedDRA:10058297 {source="Orphanet:147", source="ORDO:147/e"}
xref: MESH:D020165 {source="DOID:9280", source="EFO:0007193", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84612 {source="DOID:9280", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="MONDO:equivalentTo", source="ORDO:147/e"}
xref: Orphanet:147 {source="OMIM:237300", source="MONDO:equivalentTo"}
xref: SCTID:62522004 {source="DOID:9280", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
is_a: MONDO:0019217 {source="Orphanet:147"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751753
property_value: exactMatch DOID:9280
property_value: exactMatch http://identifiers.org/meddra/10058297
property_value: exactMatch http://identifiers.org/mesh/D020165
property_value: exactMatch http://identifiers.org/omim/237300
property_value: exactMatch http://identifiers.org/snomedct/62522004
property_value: exactMatch NCIT:C84612
property_value: exactMatch Orphanet:147

[Term]
id: MONDO:0009377
name: hyperammonemia due to N-acetylglutamate synthase deficiency
def: "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." [Orphanet:927]
subset: ordo_disease {source="Orphanet:927"}
synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310]
synonym: "N-acetyl glutamate synthetase deficiency" RELATED [GARD:0007158]
synonym: "N-acetylglutamate synthase deficiency" RELATED [MONDO:Lexical, OMIM:237310]
synonym: "N-acetylglutamate synthase deficiency; NAGSD" RELATED [OMIM:237310]
synonym: "N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310]
synonym: "NAG synthetase deficiency" RELATED [GARD:0007158]
synonym: "NAGS deficiency" EXACT [Orphanet:927]
synonym: "Nags deficiency" RELATED [OMIM:237310]
synonym: "NAGSD" RELATED [MONDO:Lexical, OMIM:237310]
xref: GARD:0007158 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.2 {source="ORDO:927/attributed", source="ORDO:927/ntbt", source="Orphanet:927"}
xref: MESH:C536109 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129307 {source="MONDO:equivalentTo"}
xref: OMIM:237310 {source="MONDO:equivalentTo", source="ORDO:927/e", source="Orphanet:927"}
xref: Orphanet:927 {source="OMIM:237310", source="MONDO:equivalentTo"}
xref: SCTID:57119000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.81/0.44/0.91"}
is_a: MONDO:0019217 {source="Orphanet:927"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268543
property_value: exactMatch http://identifiers.org/mesh/C536109
property_value: exactMatch http://identifiers.org/omim/237310
property_value: exactMatch http://identifiers.org/snomedct/57119000
property_value: exactMatch NCIT:C129307
property_value: exactMatch Orphanet:927

[Term]
id: MONDO:0009378
name: hyper-beta-alaninemia
def: "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy , and encephalopathy .Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." [GARD:0010267]
subset: gard_rare
subset: ordo_disease {source="Orphanet:309147"}
synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400]
synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147]
synonym: "hyperbetaalaninemia" RELATED [GARD:0010267]
xref: GARD:0010267 {source="MONDO:equivalentTo"}
xref: ICD10:E79.8 {source="ORDO:309147/attributed", source="ORDO:309147/ntbt", source="Orphanet:309147"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562684 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:237400 {source="GARD:0010267", source="MONDO:equivalentTo", source="ORDO:309147/e", source="Orphanet:309147"}
xref: Orphanet:309147 {source="GARD:0010267", source="OMIM:237400", source="MONDO:equivalentTo"}
xref: SCTID:2359002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268630 {source="GARD:0010267", source="OMIM:237400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309147/e", source="Orphanet:309147"}
is_a: MONDO:0016399 {source="Orphanet:309147"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019238 {source="Orphanet:309147"} ! inborn disorder of pyrimidine metabolism
property_value: exactMatch http://identifiers.org/mesh/C562684
property_value: exactMatch http://identifiers.org/omim/237400
property_value: exactMatch http://identifiers.org/snomedct/2359002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268630
property_value: exactMatch Orphanet:309147
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia xsd:anyURI {source="GARD:0010267"}

[Term]
id: MONDO:0009379
name: Rotor syndrome
def: "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." [Orphanet:3111]
subset: gard_rare {source="GARD:0000218"}
subset: ordo_disease {source="Orphanet:3111"}
synonym: "HBLRR" RELATED [MONDO:Lexical, OMIM:237450]
synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical, OMIM:237450]
synonym: "hyperbilirubinemia, Rotor type" EXACT [Orphanet:3111]
synonym: "hyperbilirubinemia, ROTOR type; HBLRR" RELATED [OMIM:237450]
synonym: "Rotor syndrome" EXACT [OMIM:237450]
synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218]
xref: GARD:0000218 {source="MONDO:equivalentTo"}
xref: ICD10:E80.6 {source="Orphanet:3111", source="ORDO:3111/attributed", source="ORDO:3111/ntbt"}
xref: MedDRA:10039234 {source="Orphanet:3111", source="ORDO:3111/e"}
xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="ORDO:3111/e"}
xref: Orphanet:3111 {source="OMIM:237450", source="MONDO:equivalentTo"}
xref: SCTID:32891000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0220991 {source="OMIM:237450", source="Orphanet:3111", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3111/e"}
is_a: MONDO:0002408 {source="DC-OMIM:237450", source="MONDOLEX:0009379", source="OMIM:237450"} ! hereditary hyperbilirubinemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10039234
property_value: exactMatch http://identifiers.org/omim/237450
property_value: exactMatch http://identifiers.org/snomedct/32891000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220991
property_value: exactMatch Orphanet:3111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome xsd:anyURI {source="GARD:0000218"}

[Term]
id: MONDO:0009380
name: Dubin-Johnson syndrome
def: "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." [Orphanet:234]
subset: gard_rare
subset: ordo_disease {source="Orphanet:234"}
synonym: "chronic idiopathic jaundice" EXACT [DOID:12308]
synonym: "conjugated hyperbilirubinemia" RELATED [GARD:0006289]
synonym: "DJS" RELATED [MONDO:Lexical, OMIM:237500]
synonym: "Dubin Johnson syndrome" EXACT [CSP2005:1654-1020, DOID:12308]
synonym: "Dubin-Johnson syndrome" EXACT [MONDO:Lexical, OMIM:237500]
synonym: "Dubin-Johnson syndrome; DJS" RELATED [OMIM:237500]
synonym: "Dubin-Sprinz disease" EXACT [Orphanet:234]
synonym: "hyperbilirubinemia 2" RELATED [OMIM:237500]
synonym: "hyperbilirubinemia type 2" EXACT [Orphanet:234]
synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [OMIM:237500]
synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234]
xref: DOID:12308 {source="MONDO:equivalentTo"}
xref: GARD:0002793 {source="MONDO:equivalentTo"}
xref: GARD:0006289 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E80.6 {source="DOID:12308", source="ORDO:234/attributed", source="ORDO:234/ntbt", source="Orphanet:234"}
xref: MedDRA:10013800 {source="ORDO:234/e", source="Orphanet:234"}
xref: MESH:D007566 {source="DOID:12308", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:234/e", source="Orphanet:234"}
xref: NCIT:C34741 {source="DOID:12308", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:237500 {source="DOID:12308", source="MONDO:equivalentTo", source="ORDO:234/e", source="Orphanet:234"}
xref: Orphanet:234 {source="MONDO:equivalentTo", source="OMIM:237500"}
xref: SCTID:44553005 {source="DOID:12308", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022350 {source="DOID:12308", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:237500", source="NCIT:C34741", source="ORDO:234/e", source="Orphanet:234"}
is_a: MONDO:0002254 {source="MONDOLEX:0009380", source="NCIT:C34741"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:237500", source="DOID:12308", source="MESH:D007566", source="MONDOLEX:0009380", source="OMIM:237500"} ! hereditary hyperbilirubinemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch DOID:12308
property_value: exactMatch http://identifiers.org/meddra/10013800
property_value: exactMatch http://identifiers.org/mesh/D007566
property_value: exactMatch http://identifiers.org/omim/237500
property_value: exactMatch http://identifiers.org/snomedct/44553005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022350
property_value: exactMatch NCIT:C34741
property_value: exactMatch Orphanet:234

[Term]
id: MONDO:0009381
name: hyperbilirubinemia, conjugated, type 3
synonym: "hyperbilirubinemia, conjugated, type III" RELATED [OMIM:237550]
xref: MESH:C562885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:237550 {source="MONDO:equivalentTo"}
xref: SCTID:235906009 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0400964 {source="OMIM:237550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002408 {source="DC-OMIM:237550", source="MESH:C562885", source="MONDOLEX:0009381"} ! hereditary hyperbilirubinemia
property_value: exactMatch http://identifiers.org/mesh/C562885
property_value: exactMatch http://identifiers.org/omim/237550
property_value: exactMatch http://identifiers.org/snomedct/235906009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400964

[Term]
id: MONDO:0009382
name: PSHB
synonym: "hyperbilirubinemia, shunt, primary" RELATED [MONDO:Lexical, OMIM:237800]
synonym: "hyperbilirubinemia, shunt, primary; PSHB" RELATED [OMIM:237800]
synonym: "PSHB" EXACT [MONDO:Lexical, OMIM:237800]
xref: OMIM:237800 {source="MONDO:equivalentTo"}
is_a: MONDO:0002408 {source="DC-OMIM:237800", source="MONDOLEX:0009382"} ! hereditary hyperbilirubinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221021
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3550398
property_value: exactMatch http://identifiers.org/omim/237800

[Term]
id: MONDO:0009383
name: transient familial neonatal hyperbilirubinemia
subset: gard_rare
subset: ordo_disease {source="Orphanet:2312"}
synonym: "breast milk jaundice" RELATED [OMIM:237900]
synonym: "HBLRTFN" RELATED [MONDO:Lexical, OMIM:237900]
synonym: "hyperbilirubinemia transient familial neonatal" RELATED [GARD:0002791]
synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical, OMIM:237900]
synonym: "hyperbilirubinemia, transient familial neonatal; HBLRTFN" RELATED [OMIM:237900]
synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312]
synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304]
xref: GARD:0002791 {source="MONDO:equivalentTo"}
xref: GARD:0003304 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:P59.8 {source="Orphanet:2312", source="ORDO:2312/attributed", source="ORDO:2312/ntbt"}
xref: MESH:C562692 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:237900 {source="ORDO:2312/e", source="Orphanet:2312", source="MONDO:equivalentTo"}
xref: Orphanet:2312 {source="MONDO:equivalentTo", source="OMIM:237900", source="GARD:0002791"}
xref: UMLS:C0270210 {source="NCBI:mim2gene_medline", source="Orphanet:2312", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:237900", source="GARD:0002791"}
is_a: MONDO:0002408 {source="DC-OMIM:237900", source="MESH:C562692", source="MONDOLEX:0009383", source="OMIM:237900"} ! hereditary hyperbilirubinemia
is_a: MONDO:0005154 {source="Orphanet:2312"} ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015507"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270215
property_value: exactMatch http://identifiers.org/mesh/C562692
property_value: exactMatch http://identifiers.org/omim/237900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270210
property_value: exactMatch Orphanet:2312
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal xsd:anyURI {source="GARD:0002791"}

[Term]
id: MONDO:0009384
name: Leydig cell hypoplasia, type 1
def: "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [OMIM:238320]
synonym: "Leydig cell agenesis" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia caused by mutation in LHCGR" EXACT [MONDO:design_pattern]
synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia, complete" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia, partial" RELATED [OMIM:238320]
synonym: "Leydig cell Hypoplasia, type 2" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia, type I" RELATED [OMIM:238320]
synonym: "LHCGR Leydig cell hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "luteinizing hormone resistance, female" RELATED [OMIM:238320]
xref: OMIM:238320 {source="MONDO:equivalentTo"}
is_a: MONDO:0019155 {source="MONDO:Redundant", source="ORDO:755/btnt"} ! Leydig cell hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266432
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673497
property_value: exactMatch http://identifiers.org/omim/238320

[Term]
id: MONDO:0009385
name: hyperleucine-Isoleucinemia
synonym: "hyperleucine-Isoleucinemia" EXACT [OMIM:238340]
xref: MESH:C562674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:238340 {source="MONDO:equivalentTo"}
xref: SCTID:7046009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268574 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:238340"}
is_a: MONDO:0003847 {source="MESH:C562674/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562674
property_value: exactMatch http://identifiers.org/omim/238340
property_value: exactMatch http://identifiers.org/snomedct/7046009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268574

[Term]
id: MONDO:0009386
name: hyperlexia
synonym: "compulsive reading" RELATED [OMIM:238350]
synonym: "hyperlexia" EXACT [OMIM:238350]
synonym: "precocious reading" RELATED [OMIM:238350]
xref: MESH:C565500 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:238350 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855928
property_value: exactMatch http://identifiers.org/mesh/C565500
property_value: exactMatch http://identifiers.org/omim/238350

[Term]
id: MONDO:0009387
name: familial lipoprotein lipase deficiency
def: "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides . Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas ( pancreatitis ), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas . Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency]
subset: gard_rare {source="GARD:0012241"}
subset: ordo_clinical_subtype {source="Orphanet:309015"}
synonym: "Burger-Grutz syndrome" RELATED [GARD:0012241]
synonym: "chylomicronemia, familial" RELATED [OMIM:238600]
synonym: "endogenous hypertriglyceridaemia" RELATED [GARD:0012241]
synonym: "familial chylomiconemia syndrome" EXACT [DOID:14118]
synonym: "familial fat-induced hypertriglyceridemia" RELATED [GARD:0012241]
synonym: "familial hyperchylomicronemia" RELATED [GARD:0012241]
synonym: "familial hyperlipoproteinemia type I" EXACT [CSP2005:1849-4577, DOID:14118]
synonym: "familial lipoprotein lipase deficiency (disorder) [ambiguous]" EXACT [DOID:14118]
synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [DOID:14118]
synonym: "familial LPL deficiency" EXACT [DOID:14118]
synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [DOID:14118]
synonym: "Fredrickson type I lipaemia" EXACT [DOID:14118]
synonym: "hypercholesterinaemic xanthomatosis" EXACT [DOID:14118]
synonym: "hyperchylomicronemia" EXACT [DOID:14118, ICD9CM_2006:272.3]
synonym: "hyperchylomicronemia, familial" RELATED [OMIM:238600]
synonym: "hyperlipemia, essential familial" RELATED [OMIM:238600]
synonym: "hyperlipemia, idiopathic, Burger-Grutz type" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia type I" EXACT [NCIT:C84771]
synonym: "hyperlipoproteinemia, type 1" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia, type 1A" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia, type I" RELATED [OMIM:238600]
synonym: "lipase D deficiency" RELATED [OMIM:238600]
synonym: "lipd deficiency" RELATED [OMIM:238600]
synonym: "lipoprotein lipase deficiency" RELATED [OMIM:238600]
synonym: "lipoprotein lipase deficiency, familial" RELATED [GARD:0012241]
synonym: "LPL deficiency" EXACT [OMIM:238600, Orphanet:309015]
synonym: "mixed hyperglyceridemia" EXACT [DOID:14118, MTHICD9_2006:272.3]
synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241]
xref: COHD:437521 {source="MONDO:equivalentTo"}
xref: DOID:14118 {source="MONDO:equivalentTo"}
xref: GARD:0012241 {source="MONDO:equivalentTo"}
xref: ICD10:E78.3 {source="DOID:14118", source="ORDO:309015/attributed", source="ORDO:309015/ntbt", source="Orphanet:309015"}
xref: ICD9:272.3 {source="DOID:14118"}
xref: NCIT:C84771 {source="DOID:14118", source="MONDO:equivalentTo"}
xref: OMIM:238600 {source="DOID:14118", source="MONDO:equivalentTo", source="ORDO:309015/e", source="Orphanet:309015"}
xref: Orphanet:309015 {source="MONDO:equivalentTo", source="OMIM:238600"}
xref: SCTID:275598004 {source="DOID:14118", source="MONDO:equivalentTo"}
is_a: MONDO:0001336 {source="DC-OMIM:238600", source="DOID:14118", source="indirect"} ! familial hyperlipidemia
is_a: MONDO:0018637 {source="Orphanet:309015"} ! familial chylomicronemia syndrome
is_a: MONDO:0037748 {source="NCIT:C84771"} ! hyperlipoproteinemia
property_value: closeMatch http://identifiers.org/mesh/D008072
property_value: closeMatch http://identifiers.org/snomedct/190781009
property_value: closeMatch http://identifiers.org/snomedct/238039006
property_value: closeMatch http://identifiers.org/snomedct/238086005
property_value: closeMatch http://identifiers.org/snomedct/267435002
property_value: closeMatch http://identifiers.org/snomedct/34171006
property_value: closeMatch http://identifiers.org/snomedct/403827000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023817
property_value: exactMatch DOID:14118
property_value: exactMatch http://identifiers.org/omim/238600
property_value: exactMatch http://identifiers.org/snomedct/275598004
property_value: exactMatch NCIT:C84771
property_value: exactMatch Orphanet:309015
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency xsd:anyURI {source="GARD:0012241"}

[Term]
id: MONDO:0009388
name: hyperlysinemia (disease)
def: "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." [Orphanet:2203]
subset: ordo_disease {source="Orphanet:2203"}
synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:238700]
synonym: "hyperlysinemia" EXACT [MONDO:ambiguous]
synonym: "hyperlysinemia type I" EXACT [Orphanet:2203]
synonym: "hyperlysinemia, type 1" RELATED [OMIM:238700]
synonym: "hyperlysinemia, type I" RELATED [OMIM:238700]
synonym: "L-lysine NAD-oxido-reductase deficiency" RELATED [GARD:0002828]
synonym: "L-lysine:NAD-oxido-reductase deficiency" RELATED [OMIM:238700]
synonym: "lysine alpha-ketoglutarate reductase deficiency" EXACT [Orphanet:2203]
synonym: "lysine intolerance" RELATED [OMIM:238700]
synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700]
xref: DOID:9274 {source="MONDO:equivalentTo"}
xref: GARD:0002828 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0002161 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E72.3 {source="MONDO:subClassOf", source="Orphanet:2203", source="ORDO:2203/ntbt", source="DOID:9274", source="ORDO:2203/inclusion"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C123433 {source="MONDO:equivalentTo", source="DOID:9274", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:238700 {source="Orphanet:2203", source="ORDO:2203/e", source="MONDO:equivalentTo", source="DOID:9274"}
xref: Orphanet:2203 {source="MONDO:equivalentTo", source="OMIM:238700", source="DOID:9274"}
xref: SCTID:58558003 {source="MONDO:kboom-pr-0.89/0.77/0.17", source="MONDO:equivalentTo", source="DOID:9274"}
xref: UMLS:C0268553 {source="Orphanet:2203", source="NCBI:mim2gene_medline", source="ORDO:2203/e", source="MONDO:equivalentTo", source="DOID:9274", source="NCIT:C123433"}
is_a: MONDO:0017351 {source="Orphanet:2203", source="linkedlifedata"} ! inborn disorder of lysine and hydroxylysine metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543533
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1282843
property_value: exactMatch DOID:9274
property_value: exactMatch http://identifiers.org/mesh/D020167
property_value: exactMatch http://identifiers.org/omim/238700
property_value: exactMatch http://identifiers.org/snomedct/58558003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936256
property_value: exactMatch NCIT:C123433
property_value: exactMatch Orphanet:2203

[Term]
id: MONDO:0009389
name: hyperlysinemia due to defect in lysine transport into mitochondria
synonym: "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria" RELATED [OMIM:238710]
xref: MESH:C565499 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:238710 {source="MONDO:equivalentTo"}
xref: UMLS:C1855927 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:238710"}
is_a: MONDO:0009388 {source="ORDO:2203/btnt"} ! hyperlysinemia (disease)
property_value: exactMatch http://identifiers.org/mesh/C565499
property_value: exactMatch http://identifiers.org/omim/238710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855927

[Term]
id: MONDO:0009390
name: hyperlysinuria with hyperammonemia
synonym: "hyperlysinemia, periodic" RELATED [OMIM:238750]
synonym: "hyperlysinuria with hyperammonemia" EXACT [OMIM:238750]
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:238750 {source="MONDO:equivalentTo"}
xref: SCTID:342553006 {source="MONDO:kboom-pr-0.71/0.41/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0268555 {source="OMIM:238750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/238750
property_value: exactMatch http://identifiers.org/snomedct/342553006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268555

[Term]
id: MONDO:0009391
name: hypermetabolism due to defect in mitochondria
synonym: "hypermetabolism due to defect in mitochondria" RELATED [OMIM:238800]
xref: MESH:C565498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:238800 {source="MONDO:equivalentTo"}
xref: UMLS:C1855926 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:238800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565498
property_value: exactMatch http://identifiers.org/omim/238800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855926

[Term]
id: MONDO:0009392
name: hyperopia, high
synonym: "hyperopia, high" EXACT [OMIM:238950]
xref: MESH:C565497 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:238950 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565497/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855925
property_value: exactMatch http://identifiers.org/mesh/C565497
property_value: exactMatch http://identifiers.org/omim/238950

[Term]
id: MONDO:0009393
name: ornithine translocase deficiency
def: "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction." [Orphanet:415]
subset: ordo_disease {source="Orphanet:415"}
synonym: "HHH" RELATED [GARD:0002830]
synonym: "HHH syndrome" EXACT [DOID:0050720, Orphanet:415]
synonym: "Hhh syndrome" RELATED [OMIM:238970]
synonym: "HHHS" RELATED [GARD:0002830]
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [DOID:0050720]
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" RELATED [OMIM:238970]
synonym: "ornithine carrier deficiency" EXACT [Orphanet:415]
synonym: "ornithine translocase deficiency" EXACT [OMIM:238970, Orphanet:415]
synonym: "ornithine translocase deficiency syndrome" RELATED [GARD:0002830]
synonym: "ORNT1 deficiency" EXACT [Orphanet:415]
synonym: "triple H syndrome" EXACT [Orphanet:415]
xref: DOID:0050720 {source="MONDO:equivalentTo"}
xref: GARD:0002830 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.4 {source="Orphanet:415", source="ORDO:415/attributed", source="ORDO:415/ntbt"}
xref: MESH:C538380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129029 {source="MONDO:equivalentTo"}
xref: OMIM:238970 {source="ORDO:415/e", source="DOID:0050720", source="Orphanet:415", source="MONDO:equivalentTo"}
xref: Orphanet:415 {source="OMIM:238970", source="MONDO:equivalentTo"}
xref: SCTID:30287008 {source="MONDO:kboom-pr-1.00/0.79/7.89", source="MONDO:equivalentTo"}
xref: UMLS:C0268540 {source="ORDO:415/e", source="OMIM:238970", source="NCBI:mim2gene_medline", source="Orphanet:415", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0009393", source="NCIT:C129029"} ! syndromic disease
is_a: MONDO:0019217 {source="Orphanet:415"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: exactMatch DOID:0050720
property_value: exactMatch http://identifiers.org/mesh/C538380
property_value: exactMatch http://identifiers.org/omim/238970
property_value: exactMatch http://identifiers.org/snomedct/30287008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268540
property_value: exactMatch NCIT:C129029
property_value: exactMatch Orphanet:415

[Term]
id: MONDO:0009394
name: juvenile Paget disease
def: "Juvenile Paget disease is a very rare form of Paget disease of the bone (see this term) characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." [Orphanet:2801]
subset: gard_rare {source="GARD:0002831"}
subset: ordo_malformation_syndrome {source="Orphanet:2801"}
synonym: "familial hyperphosphatasia" EXACT [NCIT:C131861]
synonym: "familial osteoectasia" EXACT [Orphanet:2801]
synonym: "hereditary hyperphosphatasia" EXACT [Orphanet:2801]
synonym: "hyperostosid corticalis deformans juvenilis" RELATED [GARD:0002831]
synonym: "hyperostosis corticalis deformans juvenilis" EXACT [OMIM:239000, Orphanet:2801]
synonym: "hyperphosphatasemia, chronic congenital idiopathic" RELATED [OMIM:239000]
synonym: "hyperphosphatasia, familial idiopathic" RELATED [OMIM:239000]
synonym: "JPD" RELATED [GARD:0002831]
synonym: "JPG" EXACT [Orphanet:2801]
synonym: "juvenile Paget disease" EXACT [OMIM:239000]
synonym: "juvenile Paget's disease" EXACT [Orphanet:2801]
synonym: "juvenile Pagets disease" RELATED [GARD:0002831]
synonym: "osteoectasia, familial" RELATED [OMIM:239000]
synonym: "Paget disease juvenile type" RELATED [GARD:0002831]
synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000]
synonym: "Paget disease of bone 5, juvenile-onset; PDB5" RELATED [OMIM:239000]
synonym: "PDB5" RELATED [MONDO:Lexical, OMIM:239000]
xref: GARD:0002831 {source="MONDO:equivalentTo"}
xref: ICD10:M88.0 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"}
xref: ICD10:M88.8 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"}
xref: ICD10:M88.9 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"}
xref: MESH:C537701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131861 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source="ORDO:2801/e"}
xref: Orphanet:2801 {source="MONDO:equivalentTo", source="OMIM:239000"}
xref: SCTID:9723006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
is_a: MONDO:0005382 {source="DC-OMIM:239000", source="NCIT:C131861", source="OMIM:239000"} ! bone Paget disease
is_a: MONDO:0019703 {source="Orphanet:2801"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268414
property_value: exactMatch http://identifiers.org/mesh/C537701
property_value: exactMatch http://identifiers.org/omim/239000
property_value: exactMatch http://identifiers.org/snomedct/9723006
property_value: exactMatch NCIT:C131861
property_value: exactMatch Orphanet:2801
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease xsd:anyURI {source="GARD:0002831"}

[Term]
id: MONDO:0009395
name: hyperostosis corticalis generalisata
def: "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." [Orphanet:3416]
subset: ordo_malformation_syndrome {source="Orphanet:3416"}
synonym: "endosteal hyperostosis" EXACT [NCIT:C131812]
synonym: "endosteal hyperostosis autosomal recessive" RELATED [GARD:0002833]
synonym: "endosteal hyperostosis, autosomal recessive" RELATED [OMIM:239100]
synonym: "hyperostosis corticalis generalisata" EXACT [OMIM:239100]
synonym: "hyperphosphatasemia tarda" EXACT [OMIM:239100, Orphanet:3416]
synonym: "SOST-related sclerosing bone dysplasia" RELATED [DOID:0080036]
synonym: "Van Buchem disease" EXACT [OMIM:239100, Orphanet:3416]
synonym: "van Buchem disease" EXACT [DOID:0080036]
synonym: "van Buchem disease type 1" EXACT [NCIT:C131812]
synonym: "VAN Buchem disease; VBCH" RELATED [OMIM:239100]
synonym: "VBCH" RELATED [GARD:0002833, OMIM:239100]
xref: DOID:0080036 {source="MONDO:equivalentTo"}
xref: GARD:0002833 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M85.2 {source="ORDO:3416/attributed", source="ORDO:3416/ntbt", source="Orphanet:3416"}
xref: NCIT:C131812 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:239100 {source="MONDO:equivalentTo", source="ORDO:3416/e", source="DOID:0080036", source="Orphanet:3416"}
xref: Orphanet:3416 {source="OMIM:239100", source="MONDO:equivalentTo"}
xref: SCTID:59763006 {source="MONDO:kboom-pr-1.00/0.80/9.17", source="MONDO:equivalentTo"}
is_a: MONDO:0002185 {source="DOID:0080036", source="NCIT:C131812", source="linkedlifedata"} ! hyperostosis
is_a: MONDO:0019703 {source="MONDOLEX:0009395", source="Orphanet:3416"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432271
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432272
property_value: exactMatch DOID:0080036
property_value: exactMatch http://identifiers.org/omim/239100
property_value: exactMatch http://identifiers.org/snomedct/59763006
property_value: exactMatch NCIT:C131812
property_value: exactMatch Orphanet:3416

[Term]
id: MONDO:0009396
name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
synonym: "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" EXACT [OMIM:239199]
xref: MESH:C565496 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239199 {source="MONDO:equivalentTo"}
xref: UMLS:C1855924 {source="OMIM:239199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565496
property_value: exactMatch http://identifiers.org/omim/239199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855924

[Term]
id: MONDO:0009397
name: neonatal severe primary hyperparathyroidism
def: "3.5 mM) from birth and associated with major hyperparathyroidism." [Orphanet:417]
subset: ordo_disease {source="Orphanet:417"}
synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical, OMIM:239200]
synonym: "hyperparathyroidism, neonatal severe primary" RELATED [OMIM:239200]
synonym: "hyperparathyroidism, neonatal severe; NSHPT" RELATED [OMIM:239200]
synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838]
synonym: "NSHPT" EXACT [MONDO:Lexical, OMIM:239200, Orphanet:417]
synonym: "Nsph" RELATED [OMIM:239200]
xref: GARD:0002838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E21.0 {source="Orphanet:417", source="ORDO:417/attributed", source="ORDO:417/ntbt"}
xref: MESH:C563375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131853 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:239200 {source="ORDO:417/e", source="MONDO:equivalentTo", source="Orphanet:417"}
xref: Orphanet:417 {source="OMIM:239200", source="MONDO:equivalentTo"}
xref: SCTID:715218009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832615 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:417", source="NCIT:C131853"}
is_a: MONDO:0016365 ! familial primary hyperparathyroidism
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0019705 {source="Orphanet:417"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832645
property_value: exactMatch http://identifiers.org/mesh/C563375
property_value: exactMatch http://identifiers.org/omim/239200
property_value: exactMatch http://identifiers.org/snomedct/715218009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832615
property_value: exactMatch NCIT:C131853
property_value: exactMatch Orphanet:417

[Term]
id: MONDO:0009398
name: hyperphosphatasia with intellectual disability syndrome 1
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 2" RELATED [OMIM:239300]
synonym: "HPMRS1" RELATED [MONDO:Lexical, OMIM:239300]
synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT [MONDO:Lexical, OMIM:239300]
synonym: "hyperphosphatasia with mental retardation syndrome 1; HPMRS1" RELATED [OMIM:239300]
synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT [MONDORULE:1, OMIM:239300]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV" EXACT [MONDO:design_pattern]
synonym: "Mabry syndrome" RELATED [OMIM:239300]
synonym: "PIGV hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:239300 {source="MONDO:equivalentTo"}
xref: UMLS:CN030519 {source="MONDO:equivalentTo"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:239300", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/239300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030519

[Term]
id: MONDO:0009399
name: hyperphosphatemia, polyuria, and seizures
synonym: "hyperphosphatemia, polyuria, and seizures" EXACT [OMIM:239350]
xref: MESH:C565494 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239350 {source="MONDO:equivalentTo"}
xref: UMLS:C1855922 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:239350"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565494
property_value: exactMatch http://identifiers.org/omim/239350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855922

[Term]
id: MONDO:0009400
name: hyperprolinemia type 1
def: "Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." [Orphanet:419]
subset: ordo_disease {source="Orphanet:419"}
synonym: "HPI" RELATED [OMIM:239500]
synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern]
synonym: "hyperprolinemia, type 1" RELATED [OMIM:239500]
synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical, OMIM:239500]
synonym: "hyperprolinemia, type I; HYRPRO1" RELATED [OMIM:239500]
synonym: "HYRPRO1" RELATED [MONDO:Lexical, OMIM:239500]
synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "proline oxidase deficiency" EXACT [Orphanet:419]
xref: ICD10:E72.5 {source="ORDO:419/ntbt", source="Orphanet:419", source="ORDO:419/inclusion"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058513 {source="ORDO:419/e", source="Orphanet:419"}
xref: OMIM:239500 {source="ORDO:419/e", source="MONDO:equivalentTo", source="Orphanet:419"}
xref: Orphanet:419 {source="OMIM:239500", source="MONDO:equivalentTo"}
xref: SCTID:61071003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.83"}
is_a: MONDO:0016399 {source="Orphanet:419"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:419"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0023419 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! hyperprolinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268529
property_value: exactMatch http://identifiers.org/meddra/10058513
property_value: exactMatch http://identifiers.org/omim/239500
property_value: exactMatch http://identifiers.org/snomedct/61071003
property_value: exactMatch Orphanet:419

[Term]
id: MONDO:0009401
name: hyperprolinemia type 2
def: "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." [Orphanet:79101]
subset: gard_rare {source="GARD:0006710"}
subset: ordo_disease {source="Orphanet:79101"}
synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710]
synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510]
synonym: "ALDH4A1 hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [Orphanet:79101]
synonym: "HPII" RELATED [OMIM:239510]
synonym: "hyperprolinemia caused by mutation in ALDH4A1" EXACT [MONDO:design_pattern]
synonym: "hyperprolinemia, type 2" RELATED [OMIM:239510]
synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510]
synonym: "hyperprolinemia, type II; HYRPRO2" RELATED [OMIM:239510]
synonym: "HYRPRO2" RELATED [MONDO:Lexical, OMIM:239510]
synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710]
xref: GARD:0006710 {source="MONDO:equivalentTo"}
xref: ICD10:E72.5 {source="ORDO:79101/attributed", source="ORDO:79101/ntbt", source="Orphanet:79101"}
xref: MedDRA:10058512 {source="ORDO:79101/e", source="Orphanet:79101"}
xref: MedDRA:10058514 {source="ORDO:79101/e", source="Orphanet:79101"}
xref: MESH:C538385 {source="MONDO:equivalentTo", source="ORDO:79101/e", source="MONDO:ontobio", source="Orphanet:79101"}
xref: OMIM:239510 {source="MONDO:equivalentTo", source="ORDO:79101/e", source="Orphanet:79101"}
xref: Orphanet:79101 {source="OMIM:239510", source="MONDO:equivalentTo"}
xref: SCTID:717181004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2931835 {source="OMIM:239510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79101/e", source="Orphanet:79101"}
is_a: MONDO:0016399 {source="Orphanet:79101"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:79101"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0023419 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! hyperprolinemia
property_value: exactMatch http://identifiers.org/meddra/10058512
property_value: exactMatch http://identifiers.org/meddra/10058514
property_value: exactMatch http://identifiers.org/mesh/C538385
property_value: exactMatch http://identifiers.org/omim/239510
property_value: exactMatch http://identifiers.org/snomedct/717181004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931835
property_value: exactMatch Orphanet:79101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 xsd:anyURI {source="GARD:0006710"}

[Term]
id: MONDO:0009402
name: hypertelorism-hypospadias-polysyndactyly syndrome
def: "Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." [Orphanet:2211]
subset: ordo_malformation_syndrome {source="Orphanet:2211"}
synonym: "acrofrontofacionasal dysostosis 2" RELATED [OMIM:239710]
synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, OMIM:239710, Orphanet:2211]
synonym: "acrofrontofacionasal dysostosis with genitourinary anomalies" RELATED [OMIM:239710]
synonym: "acrofrontofacionasal dysostosis, severe" RELATED [GARD:0000287]
synonym: "acrofrontofacionasal syndrome type 2" EXACT [Orphanet:2211]
synonym: "Affn dysostosis 2" RELATED [OMIM:239710]
synonym: "hypertelorism hypospadias polysyndactyly syndrome" RELATED [GARD:0000287]
synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [OMIM:239710]
synonym: "Naguib syndrome" RELATED [GARD:0000287]
synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211]
xref: GARD:0000287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2211", source="ORDO:2211/attributed", source="ORDO:2211/ntbt"}
xref: MESH:C538332 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239710 {source="ORDO:2211/e", source="Orphanet:2211", source="MONDO:equivalentTo"}
xref: Orphanet:2211 {source="OMIM:239710", source="MONDO:equivalentTo"}
xref: SCTID:721835008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0008715 {source="DC-OMIM:239710", source="linkedlifedata"} ! acrofrontofacionasal dysostosis
is_a: MONDO:0015620 {source="Orphanet:2211"} ! syndromic urogenital tract malformation
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2211"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538332
property_value: exactMatch http://identifiers.org/omim/239710
property_value: exactMatch http://identifiers.org/snomedct/721835008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855904
property_value: exactMatch Orphanet:2211

[Term]
id: MONDO:0009403
name: hypertelorism and tetralogy of fallot
subset: gard_rare {source="GARD:0002848"}
synonym: "hypertelorism and tetralogy of fallot" EXACT [OMIM:239711]
xref: GARD:0002848 {source="MONDO:equivalentTo"}
xref: MESH:C538386 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239711 {source="MONDO:equivalentTo"}
xref: UMLS:C1855903 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:239711"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538386
property_value: exactMatch http://identifiers.org/omim/239711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855903
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot xsd:anyURI {source="GARD:0002848"}

[Term]
id: MONDO:0009404
name: hypertelorism, microtia, facial clefting syndrome
def: "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." [Orphanet:2213]
subset: ordo_malformation_syndrome {source="Orphanet:2213"}
synonym: "Bixler Christian Gorlin syndrome" EXACT [DOID:14670]
synonym: "Bixler syndrome" EXACT [DOID:14670]
synonym: "Bixler-Christian-Gorlin syndrome" EXACT [DOID:14670, Orphanet:2213]
synonym: "HMC syndrome" EXACT [DOID:14670, OMIM:239800, Orphanet:2213]
synonym: "hypertelorism microtia facial clefting syndrome" RELATED [GARD:0000897]
synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [OMIM:239800]
synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670]
synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670]
xref: DOID:14670 {source="MONDO:equivalentTo"}
xref: GARD:0000897 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2213", source="ORDO:2213/attributed", source="ORDO:2213/ntbt"}
xref: MESH:C537632 {source="DOID:14670", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239800 {source="ORDO:2213/e", source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo"}
xref: Orphanet:2213 {source="MONDO:equivalentTo", source="OMIM:239800"}
xref: SCTID:721836009 {source="MONDO:kboom-pr-0.99/0.72/4.56", source="MONDO:equivalentTo"}
xref: UMLS:C0220742 {source="ORDO:2213/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="OMIM:239800"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2213", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 {source="DOID:14670", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:2213"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015335 {source="Orphanet:2213"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:14670
property_value: exactMatch http://identifiers.org/mesh/C537632
property_value: exactMatch http://identifiers.org/omim/239800
property_value: exactMatch http://identifiers.org/snomedct/721836009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220742
property_value: exactMatch Orphanet:2213

[Term]
id: MONDO:0009405
name: cervical hypertrichosis-peripheral neuropathy syndrome
def: "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." [Orphanet:2218]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2218"}
synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226]
synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840]
xref: GARD:0001226 {source="MONDO:equivalentTo"}
xref: MESH:C565492 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="ORDO:2218/e"}
xref: Orphanet:2218 {source="OMIM:239840", source="MONDO:equivalentTo", source="GARD:0001226"}
xref: UMLS:C1855902 {source="MEDGEN:kboom-pr98-c99", source="OMIM:239840", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2218"}
xref: UMLS:C2931676 {source="MONDO:equivalentTo", source="Orphanet:2218", source="ORDO:2218/e"}
is_a: MONDO:0017121 {source="Orphanet:2218"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:2218", source="Orphanet:2218/inferred"} ! genetic nervous system disorder
is_a: MONDO:0019280 {source="MESH:C565492", source="Orphanet:2218"} ! hypertrichosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C565492
property_value: exactMatch http://identifiers.org/omim/239840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855902
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931676
property_value: exactMatch Orphanet:2218
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy xsd:anyURI {source="GARD:0001226"}

[Term]
id: MONDO:0009406
name: hypertrichotic osteochondrodysplasia Cantu type
def: "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." [Orphanet:1517]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1517"}
synonym: "Cantu syndrome" EXACT [DOID:0060569, OMIM:239850]
synonym: "Craniofaciocardioskeletal syndrome" RELATED [GARD:0008585]
synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585, OMIM:239850]
synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517]
xref: DOID:0060569 {source="MONDO:equivalentTo"}
xref: GARD:0008585 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="ORDO:1517/attributed", source="ORDO:1517/ntbt", source="Orphanet:1517"}
xref: MESH:C535572 {source="MONDO:equivalentTo", source="DOID:0060569", source="ORDO:1517/e", source="MONDO:ontobio", source="Orphanet:1517"}
xref: OMIM:239850 {source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="ORDO:1517/e", source="Orphanet:1517"}
xref: Orphanet:1517 {source="OMIM:239850", source="MONDO:equivalentTo", source="GARD:0008585"}
xref: SCTID:239087008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.72/4.61"}
xref: UMLS:C0795905 {source="OMIM:239850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1517/e", source="Orphanet:1517"}
is_a: MONDO:0005516 {source="DOID:0060569", source="MESH:C535572"} ! osteochondrodysplasia
is_a: MONDO:0019710 {source="Orphanet:1517"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1517"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: disease_has_feature MONDO:0019280 {source="Wikidata"} ! hypertrichosis (disease)
property_value: exactMatch DOID:0060569
property_value: exactMatch http://identifiers.org/mesh/C535572
property_value: exactMatch http://identifiers.org/omim/239850
property_value: exactMatch http://identifiers.org/snomedct/239087008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795905
property_value: exactMatch Orphanet:1517
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome xsd:anyURI {source="GARD:0008585"}

[Term]
id: MONDO:0009407
name: hypertrophic neuropathy and cataract
synonym: "hypertrophic neuropathy and cataract" EXACT [OMIM:239900]
xref: MESH:C565490 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:239900 {source="MONDO:equivalentTo"}
xref: UMLS:C1855885 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:239900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565490
property_value: exactMatch http://identifiers.org/omim/239900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855885

[Term]
id: MONDO:0009408
name: hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
synonym: "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" EXACT [OMIM:240000]
xref: MESH:C565489 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:240000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855884 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240000"}
is_a: MONDO:0003847 {source="MESH:C565489/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565489
property_value: exactMatch http://identifiers.org/omim/240000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855884

[Term]
id: MONDO:0009409
name: hypervitaminosis a, susceptibility to
subset: predisposition
synonym: "hypervitaminosis a, susceptibility to" EXACT [OMIM:240150]
xref: OMIM:240150 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855883
property_value: exactMatch http://identifiers.org/omim/240150

[Term]
id: MONDO:0009410
name: Addison disease
def: "Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term)." [Orphanet:85138]
subset: ordo_disease {source="Orphanet:85138"}
synonym: "Addison disease" EXACT [DOID:13774, OMIM:240200]
synonym: "Addison disease, chronic adrenal insufficiency" EXACT [DOID:13774]
synonym: "Addison's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "adrenal aplasia" RELATED [OMIM:240200]
synonym: "adrenal gland hypofunction" RELATED [GARD:0005740]
synonym: "adrenal hypoplasia" RELATED [OMIM:240200]
synonym: "autoimmune Addison disease" EXACT [Orphanet:85138]
synonym: "autoimmune Addison's disease" EXACT [Orphanet:85138]
synonym: "autoimmune adrenalitis" EXACT [Orphanet:85138]
synonym: "autoimmune primary adrenal insufficiency" EXACT [NCIT:C113814]
synonym: "classic Addison's disease" EXACT [Orphanet:85138]
synonym: "hypoadrenocorticism familial" RELATED [GARD:0005740]
synonym: "hypoadrenocorticism, familial" EXACT [DOID:13774, OMIM:240200]
synonym: "primary Addison's disease" EXACT [Orphanet:85138]
synonym: "primary adrenocortical insufficiency" EXACT [DOID:13774]
synonym: "primary hypoadrenalism" EXACT [DOID:13774]
xref: COHD:4160059 {source="MONDO:equivalentTo"}
xref: DOID:13774 {source="MONDO:equivalentTo"}
xref: GARD:0005740 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E27.1 {source="Orphanet:85138", source="ORDO:85138/ntbt", source="DOID:13774"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001130 {source="ORDO:85138/e", source="Orphanet:85138"}
xref: NCIT:C113814 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.78/3.84"}
xref: OMIM:240200 {source="ORDO:85138/e", source="Orphanet:85138", source="MONDO:equivalentTo", source="DOID:13774"}
xref: Orphanet:85138 {source="MONDO:equivalentTo", source="OMIM:240200"}
xref: SCTID:373662000 {source="MONDO:equivalentTo", source="DOID:13774", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0271737 {source="NCIT:C113814", source="ORDO:85138/e", source="Orphanet:85138", source="MONDO:equivalentTo"}
is_a: MONDO:0000004 {source="DC-OMIM:240200", source="DOID:13774", source="MONDO:Redundant", source="NCIT:C113814/inferred", source="linkedlifedata"} ! adrenocortical insufficiency
is_a: MONDO:0015130 {source="Orphanet:85138"} ! acquired chronic primary adrenal insufficiency
property_value: closeMatch http://identifiers.org/snomedct/111562000
property_value: closeMatch http://identifiers.org/snomedct/154707007
property_value: closeMatch http://identifiers.org/snomedct/267483004
property_value: closeMatch http://identifiers.org/snomedct/363732003
property_value: closeMatch http://identifiers.org/snomedct/367376006
property_value: closeMatch http://identifiers.org/snomedct/68588005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266273
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868690
property_value: exactMatch DOID:13774
property_value: exactMatch http://identifiers.org/meddra/10001130
property_value: exactMatch http://identifiers.org/mesh/D000224
property_value: exactMatch http://identifiers.org/omim/240200
property_value: exactMatch http://identifiers.org/snomedct/373662000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271737
property_value: exactMatch NCIT:C113814
property_value: exactMatch Orphanet:85138

[Term]
id: MONDO:0009411
name: autoimmune polyendocrine syndrome type 1
def: "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." [Orphanet:3453]
subset: gard_rare
subset: ordo_disease {source="Orphanet:3453"}
synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "aire autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern]
synonym: "APECED syndrome" EXACT [Orphanet:3453]
synonym: "APS 1" RELATED [OMIM:240300]
synonym: "APS type 1" EXACT [Orphanet:3453]
synonym: "APS1" EXACT [MONDO:Lexical, OMIM:240300, Orphanet:3453]
synonym: "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" EXACT [Orphanet:3453]
synonym: "autoimmune polyendocrine syndrome type 1" EXACT [Orphanet:3453]
synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:240300]
synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1" RELATED [OMIM:240300]
synonym: "autoimmune polyendocrinopathy caused by mutation in AIRE" EXACT []
synonym: "autoimmune polyendocrinopathy caused by mutation in aire" EXACT [MONDO:design_pattern]
synonym: "autoimmune polyendocrinopathy syndrome type 1" RELATED [GARD:0008466]
synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [OMIM:240300]
synonym: "autoimmune polyendocrinopathy type 1" RELATED [Orphanet:3453]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [DOID:0050167, OMIM:240300]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)" RELATED [GARD:0008466]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" EXACT [Orphanet:3453]
synonym: "autoimmune polyglandular syndrome I" EXACT [DOID:0050167]
synonym: "autoimmune polyglandular syndrome type 1" EXACT [Orphanet:3453]
synonym: "autoimmune polyglandular syndrome, type 1" RELATED [OMIM:240300]
synonym: "ham syndrome" EXACT [Orphanet:3453]
synonym: "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis" RELATED [OMIM:240300]
synonym: "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" EXACT [Orphanet:3453]
synonym: "MEDAC syndrome" EXACT [Orphanet:3453]
synonym: "multiple endocrine deficiency-Addison disease-candidiasis syndrome" EXACT [Orphanet:3453]
synonym: "PGA 1" RELATED [OMIM:240300]
synonym: "polyglandular autoimmune syndrome type 1" EXACT [NCIT:C129727]
synonym: "polyglandular autoimmune syndrome, type 1" RELATED [OMIM:240300]
synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [OMIM:240300]
synonym: "Whitaker syndrom" EXACT [DOID:0050167]
synonym: "Whitaker syndrome" RELATED [GTR:AN0156902]
xref: DOID:0050167 {source="MONDO:equivalentTo"}
xref: GARD:0005558 {source="MONDO:equivalentTo"}
xref: GARD:0008466 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E31.0 {source="MONDO:subClassOf", source="Orphanet:3453", source="ORDO:3453/inclusion", source="ORDO:3453/ntbt"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129727 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:240300 {source="Orphanet:3453", source="ORDO:3453/e", source="DOID:0050167", source="MONDO:equivalentTo"}
xref: Orphanet:3453 {source="MONDO:equivalentTo", source="OMIM:240300"}
xref: SCTID:11244009 {source="MONDO:kboom-pr-1.00/0.79/7.85", source="MONDO:equivalentTo"}
xref: UMLS:C0085859 {source="Orphanet:3453", source="MEDGEN:kboom-pr98-c99", source="GARD:0005558", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129727", source="OMIM:240300"}
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:3453", source="Orphanet:3453/inferred"} ! adrenal gland disease
is_a: MONDO:0015709 {source="Orphanet:3453"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0016165 {source="Orphanet:3453"} ! genetic hypoparathyroidism
is_a: MONDO:0017278 {source="DC-OMIM:240300", source="DOID:0050167", source="MONDO:Redundant", source="MONDOLEX:0009411", source="NCIT:C129727", source="Orphanet:3453", source="linkedlifedata"} ! autoimmune polyendocrinopathy
is_a: MONDO:0018242 ! autoimmune hypoparathyroidism (disease)
relationship: excluded_subClassOf MONDO:0015130 {source="Orphanet:3453"} ! acquired chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0019851 {source="Orphanet:3453"} ! acquired primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855868
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855869
property_value: exactMatch DOID:0050167
property_value: exactMatch http://identifiers.org/mesh/C538275
property_value: exactMatch http://identifiers.org/omim/240300
property_value: exactMatch http://identifiers.org/snomedct/11244009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085859
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3494489
property_value: exactMatch NCIT:C129727
property_value: exactMatch Orphanet:3453

[Term]
id: MONDO:0009412
name: scurvy
def: "Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia , gum disease, and skin hemorrhages . Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." [https://rarediseases.info.nih.gov/diseases/10406/scurvy]
comment: An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic.
subset: gard_rare {source="GARD:0010406"}
synonym: "deficiency of vitamin C" RELATED [GARD:0010406]
synonym: "Gulo, nonfunctional" RELATED [OMIM:240400]
synonym: "hypoascorbemia" RELATED [OMIM:240400]
synonym: "L-gulonolactone oxidase pseudogene" RELATED [OMIM:240400]
synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [OMIM:240400]
synonym: "scorbutus" RELATED [GARD:0010406]
synonym: "scurvy" EXACT [NCIT:C35010, OMIM:240400]
synonym: "vitamin C deficiency" EXACT [GARD:0010406, NCIT:C35010]
synonym: "vitamin C, inability to synthesize" RELATED [OMIM:240400]
xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"}
xref: EFO:1001169 {source="MONDO:equivalentTo"}
xref: GARD:0010406 {source="MONDO:equivalentTo"}
xref: ICD10:E54 {source="DOID:13724", source="MONDO:directSiblingOf"}
xref: MedDRA:10039768 {source="EFO:1001169"}
xref: MESH:D012614 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo"}
xref: NCIT:C35010 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:240400 {source="DOID:13724", source="MONDO:equivalentTo"}
xref: UMLS:C0036474 {source="NCIT:C35010", source="DOID:13724", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240400"}
is_a: MONDO:0024298 {source="MESH:D012614/inferred", source="NCIT:C35010"} ! vitamin deficiency disorder
property_value: closeMatch http://identifiers.org/meddra/10039768
property_value: closeMatch http://identifiers.org/snomedct/154727008
property_value: closeMatch http://identifiers.org/snomedct/190638001
property_value: closeMatch http://identifiers.org/snomedct/238129003
property_value: closeMatch http://identifiers.org/snomedct/267493006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415369
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855867
property_value: exactMatch DOID:13724
property_value: exactMatch http://identifiers.org/mesh/D012614
property_value: exactMatch http://identifiers.org/omim/240400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036474
property_value: exactMatch NCIT:C35010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10406/scurvy xsd:anyURI {source="GARD:0010406"}

[Term]
id: MONDO:0009413
name: immunodeficiency, common variable, 2
synonym: "antibody deficiency due to TACI defect" RELATED [OMIM:240500]
synonym: "CVID2" RELATED [MONDO:Lexical, OMIM:240500]
synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [OMIM:240500]
synonym: "immunodeficiency, common variable, 2" EXACT [MONDO:Lexical, OMIM:240500]
synonym: "immunodeficiency, common variable, 2; CVID2" RELATED [OMIM:240500]
synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1, OMIM:240500]
xref: OMIM:240500 {source="MONDO:equivalentTo"}
xref: UMLS:C3150354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240500"}
is_a: MONDO:0015517 {source="DC-OMIM:240500", source="MONDOLEX:0009413", source="OMIM:240500"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/240500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150354

[Term]
id: MONDO:0009414
name: glycogen storage disease due to hepatic glycogen synthase deficiency
def: "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." [Orphanet:2089]
subset: ordo_disease {source="Orphanet:2089"}
synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600]
synonym: "glycogen storage disease 0, liver; GSD0A" RELATED [OMIM:240600]
synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to liver glycogen synthase deficiency" EXACT [Orphanet:2089]
synonym: "glycogen storage disease type 0" RELATED []
synonym: "glycogen storage disease type 0, liver" RELATED [GARD:0002513]
synonym: "glycogen storage disease type 0a" EXACT [Orphanet:2089]
synonym: "glycogen synthase deficiency" EXACT []
synonym: "glycogenosis type 0a" EXACT [Orphanet:2089]
synonym: "GSD 0A" RELATED [OMIM:240600]
synonym: "GSD due to hepatic glycogen synthase deficiency" EXACT [Orphanet:2089]
synonym: "GSD type 0a" EXACT [Orphanet:2089]
synonym: "GSD0A" RELATED [MONDO:Lexical, OMIM:240600]
synonym: "hepatic glycogen synthase deficiency" RELATED [GARD:0002513]
synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889, OMIM:240600]
synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600]
synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600]
synonym: "liver GSD 0" RELATED [GARD:0002513]
xref: GARD:0002513 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0002889 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:2089", source="ORDO:2089/inclusion", source="ORDO:2089/ntbt"}
xref: MESH:C565485 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:240600 {source="Orphanet:2089", source="ORDO:2089/e", source="MONDO:equivalentTo"}
xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"}
xref: SCTID:237964009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342748 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C1855861 {source="Orphanet:2089", source="MEDGEN:kboom-pr98-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240600"}
is_a: MONDO:0005154 ! liver disease
is_a: MONDO:0017693 {source="MONDO:Redundant", source="Orphanet:2089"} ! glycogen storage disease due to glycogen synthase deficiency
property_value: exactMatch http://identifiers.org/mesh/C565485
property_value: exactMatch http://identifiers.org/omim/240600
property_value: exactMatch http://identifiers.org/snomedct/237964009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342748
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855861
property_value: exactMatch Orphanet:2089

[Term]
id: MONDO:0009415
name: hypoglycemia, leucine-induced
synonym: "familial infantile hypoglycemia precipitated by leucine" RELATED [GARD:0009915]
synonym: "hypoglycemia leucine induced" RELATED [GARD:0009915]
synonym: "hypoglycemia leucine-induced" RELATED [GARD:0009915]
synonym: "hypoglycemia, leucine-induced" EXACT [MONDO:Lexical, OMIM:240800]
synonym: "hypoglycemia, leucine-induced; LIH" RELATED [OMIM:240800]
synonym: "leucine-sensitive hypoglycemia of infancy" RELATED [OMIM:240800]
synonym: "LIH" RELATED [MONDO:Lexical, OMIM:240800]
xref: EFO:0006856 {source="MONDO:equivalentTo"}
xref: GARD:0009915 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537150 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:240800 {source="MONDO:equivalentTo"}
xref: SCTID:62151007 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C0271714 {source="OMIM:240800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537150
property_value: exactMatch http://identifiers.org/omim/240800
property_value: exactMatch http://identifiers.org/snomedct/62151007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271714

[Term]
id: MONDO:0009416
name: hypoinsulinemic hypoglycemia and body hemihypertrophy
subset: ordo_disease {source="Orphanet:293964"}
synonym: "HIHGHH" RELATED [MONDO:Lexical, OMIM:240900]
synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900]
synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH" RELATED [OMIM:240900]
xref: OMIM:240900 {source="MONDO:equivalentTo", source="Orphanet:293964", source="ORDO:293964/e"}
xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"}
xref: UMLS:CN203155 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:293964"} ! endocrine system disease
is_a: MONDO:0019716 {source="Orphanet:293964"} ! overgrowth syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855860
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278384
property_value: exactMatch http://identifiers.org/omim/240900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203155
property_value: exactMatch Orphanet:293964

[Term]
id: MONDO:0009417
name: hypergonadotropic hypogonadism-cataract syndrome
def: "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." [Orphanet:2410]
subset: ordo_malformation_syndrome {source="Orphanet:2410"}
synonym: "cataracts and testicular failure" RELATED [OMIM:240950]
synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298]
synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950]
synonym: "Lubinsky syndrome" EXACT [Orphanet:2410]
xref: GARD:0000298 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E29.1 {source="Orphanet:2410", source="ORDO:2410/attributed", source="ORDO:2410/ntbt"}
xref: MESH:C543092 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:240950 {source="Orphanet:2410", source="ORDO:2410/e", source="MONDO:equivalentTo"}
xref: Orphanet:2410 {source="MONDO:equivalentTo", source="OMIM:240950"}
xref: SCTID:721233005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.96"}
xref: UMLS:C1855859 {source="Orphanet:2410", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240950"}
is_a: MONDO:0015218 {source="Orphanet:2410"} ! syndromic developmental defect of the eye
is_a: MONDO:0020225 {source="Orphanet:2410"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C543092
property_value: exactMatch http://identifiers.org/omim/240950
property_value: exactMatch http://identifiers.org/snomedct/721233005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855859
property_value: exactMatch Orphanet:2410

[Term]
id: MONDO:0009418
name: hypogonadism with low-grade mental deficiency and microcephaly
synonym: "hypogonadism with low-grade mental deficiency and microcephaly" EXACT [OMIM:241000]
xref: MESH:C565482 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565482
property_value: exactMatch http://identifiers.org/omim/241000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855858

[Term]
id: MONDO:0009419
name: Woodhouse-Sakati syndrome
def: "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." [Orphanet:3464]
subset: gard_rare {source="GARD:0005592"}
subset: ordo_disease {source="Orphanet:3464"}
synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [Orphanet:3464]
synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia" RELATED [OMIM:241080]
synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" RELATED [OMIM:241080]
synonym: "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities" RELATED [GARD:0005592]
synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592]
synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080]
xref: GARD:0005592 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3464", source="ORDO:3464/attributed", source="ORDO:3464/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536742 {source="Orphanet:3464", source="ORDO:3464/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241080 {source="Orphanet:3464", source="ORDO:3464/e", source="MONDO:equivalentTo"}
xref: Orphanet:3464 {source="OMIM:241080", source="MONDO:equivalentTo"}
xref: SCTID:237616002 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:C0342286 {source="Orphanet:3464", source="OMIM:241080", source="ORDO:3464/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:3464"} ! syndromic intellectual disability
is_a: MONDO:0015888 {source="Orphanet:3464"} ! other rare diabetes mellitus
is_a: MONDO:0015890 {source="Orphanet:3464"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0018265 {source="Orphanet:3464"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0018307 {source="Orphanet:3464"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch http://identifiers.org/mesh/C536742
property_value: exactMatch http://identifiers.org/omim/241080
property_value: exactMatch http://identifiers.org/snomedct/237616002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342286
property_value: exactMatch Orphanet:3464
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome xsd:anyURI {source="GARD:0005592"}

[Term]
id: MONDO:0009420
name: primary hypergonadotropic hypogonadism-partial alopecia syndrome
def: "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." [Orphanet:2232]
subset: ordo_disease {source="Orphanet:2232"}
synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232]
synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090]
xref: ICD10:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="ORDO:2232/attributed", source="ORDO:2232/btnt"}
xref: ICD10:E29.1 {source="Orphanet:2232", source="ORDO:2232/attributed", source="ORDO:2232/btnt"}
xref: MESH:C567109 {source="MONDO:equivalentTo"}
xref: OMIM:241090 {source="Orphanet:2232", source="ORDO:2232/e", source="MONDO:equivalentTo"}
xref: Orphanet:2232 {source="MONDO:equivalentTo", source="OMIM:241090"}
xref: SCTID:719275009 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0018388 {source="Orphanet:181441"} ! rare male infertility due to testicular endocrine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673480
property_value: exactMatch http://identifiers.org/mesh/C567109
property_value: exactMatch http://identifiers.org/omim/241090
property_value: exactMatch http://identifiers.org/snomedct/719275009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931374
property_value: exactMatch Orphanet:2232

[Term]
id: MONDO:0009421
name: hypogonadism, male
comment: Editor note: check OMIM
synonym: "hypogonadism and testicular atrophy" RELATED [OMIM:241100]
synonym: "hypogonadism, male" EXACT [OMIM:241100, OMIM:307300]
xref: ICD9:257.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:241100 {source="MONDO:equivalentTo"}
xref: SCTID:48723006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0002146 {source="DC-OMIM:241100", source="OMIM:307300", source="linkedlifedata"} ! hypogonadism
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151721
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673479
property_value: exactMatch http://identifiers.org/omim/241100
property_value: exactMatch http://identifiers.org/snomedct/48723006

[Term]
id: MONDO:0009422
name: hypohidrosis with abnormal palmar dermal Ridges
synonym: "hypohidrosis with abnormal palmar dermal Ridges" EXACT [OMIM:241120]
synonym: "sweat gland hypoplasia" RELATED [OMIM:241120]
xref: MESH:C565481 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241120 {source="MONDO:equivalentTo"}
xref: UMLS:C1855856 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241120"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565481
property_value: exactMatch http://identifiers.org/omim/241120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855856

[Term]
id: MONDO:0009423
name: hypokalemic alkalosis, familial, with specific renal tubulopathy
synonym: "Gullner syndrome" RELATED [OMIM:241150]
synonym: "hypokalemia, familial" RELATED [OMIM:241150]
synonym: "hypokalemic alkalosis, familial, with specific renal tubulopathy" EXACT [OMIM:241150]
xref: MESH:C562654 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241150 {source="MONDO:equivalentTo"}
xref: SCTID:81987005 {source="MONDO:kboom-pr-1.00/0.74/5.70", source="MONDO:equivalentTo"}
xref: UMLS:C0268444 {source="NCBI:mim2gene_medline", source="OMIM:241150", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562654/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562654
property_value: exactMatch http://identifiers.org/omim/241150
property_value: exactMatch http://identifiers.org/snomedct/81987005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268444

[Term]
id: MONDO:0009424
name: Bartter disease type 2
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BARTS2" EXACT [DOID:0110143]
synonym: "Bartter syndrome antenatal type 2" RELATED [GARD:0009658]
synonym: "Bartter syndrome caused by mutation in KCNJ1" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 2" EXACT [DOID:0110143]
synonym: "Bartter syndrome type 2 antenatal" EXACT [DOID:0110143]
synonym: "Bartter syndrome, antenatal, type 2" RELATED [OMIM:241200]
synonym: "Bartter syndrome, type 2, antenatal" RELATED [OMIM:241200]
synonym: "Bartter syndrome, type 2, antenatal; BARTS2" RELATED [OMIM:241200]
synonym: "hyperprostaglandin E syndrome 2" EXACT [DOID:0110143]
synonym: "hyperprostaglandin E syndrome 2" RELATED [OMIM:241200]
synonym: "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT [DOID:0110143]
synonym: "hypokalemic alkalosis with hypercalciuria 2, antenatal" RELATED [OMIM:241200]
synonym: "hypokalemic alkalosis with hypercalciuria antenatal 2" RELATED [GARD:0009658]
synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [OMIM:241200]
synonym: "KCNJ1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110143 {source="MONDO:equivalentTo"}
xref: GARD:0009658 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="DOID:0110143"}
xref: MESH:C537651 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241200 {source="MONDO:equivalentTo", source="DOID:0110143"}
xref: SCTID:700109009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="MONDOLEX:0009424", source="OMIM:241200", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855849
property_value: exactMatch DOID:0110143
property_value: exactMatch http://identifiers.org/mesh/C537651
property_value: exactMatch http://identifiers.org/omim/241200
property_value: exactMatch http://identifiers.org/snomedct/700109009

[Term]
id: MONDO:0009425
name: hypomandibular faciocranial dysostosis
def: "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." [Orphanet:1790]
subset: gard_rare {source="GARD:0002907"}
subset: ordo_malformation_syndrome {source="Orphanet:1790"}
synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310]
xref: GARD:0002907 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.4 {source="ORDO:1790/attributed", source="ORDO:1790/ntbt", source="Orphanet:1790"}
xref: MESH:C537154 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1790", source="ORDO:1790/e"}
xref: OMIM:241310 {source="MONDO:equivalentTo", source="Orphanet:1790", source="ORDO:1790/e"}
xref: Orphanet:1790 {source="MONDO:equivalentTo", source="OMIM:241310"}
xref: SCTID:721845005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020018 {source="Orphanet:1790"} ! cranial malformation
is_a: MONDO:0043007 {source="Orphanet:1790"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C537154
property_value: exactMatch http://identifiers.org/omim/241310
property_value: exactMatch http://identifiers.org/snomedct/721845005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855848
property_value: exactMatch Orphanet:1790
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis xsd:anyURI {source="GARD:0002907"}

[Term]
id: MONDO:0009426
name: hypoparathyroidism-retardation-dysmorphism syndrome
def: "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features." [Orphanet:2323]
subset: ordo_malformation_syndrome {source="Orphanet:2323"}
synonym: "HRD" RELATED [MONDO:Lexical, OMIM:241410]
synonym: "HRD syndrome" EXACT [DOID:0060348, Orphanet:2323]
synonym: "HRDS" EXACT [NCIT:C133727]
synonym: "hypoparathyroidism with short stature, intellectual disability and seizures" RELATED [GARD:0000411]
synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT [DOID:0060348]
synonym: "hypoparathyroidism with short stature, mental retardation, and seizures" RELATED [OMIM:241410]
synonym: "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" RELATED [GARD:0000411]
synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [OMIM:241410]
synonym: "hypoparathyroidism-intellectual disability-dysmorphism syndrome" EXACT [Orphanet:2323]
synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:241410]
synonym: "hypoparathyroidism-retardation-dysmorphism syndrome; HRD" RELATED [OMIM:241410]
synonym: "hypoparathyroidism-retardation-dysmorphism syndrome; HRDS" RELATED [OMIM:241410]
synonym: "hypoparathyroidism-short stature-intellectual disability-seizures syndrome" EXACT [Orphanet:2323]
synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323]
synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410]
synonym: "SSS" EXACT [Orphanet:2323]
xref: DOID:0060348 {source="MONDO:equivalentTo"}
xref: GARD:0000411 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:2323", source="ORDO:2323/attributed", source="ORDO:2323/ntbt"}
xref: MESH:C537157 {source="MONDO:equivalentTo", source="DOID:0060348", source="MONDO:ontobio"}
xref: NCIT:C133727 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.86/1.21"}
xref: OMIM:241410 {source="ORDO:2323/e", source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348"}
xref: Orphanet:2323 {source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"}
xref: UMLS:C1855840 {source="NCIT:C133727", source="ORDO:2323/e", source="NCBI:mim2gene_medline", source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2323", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 {source="DOID:0060348", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2323"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015895 {source="Orphanet:2323"} ! syndrome with hypoparathyroidism
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060348
property_value: exactMatch http://identifiers.org/mesh/C537157
property_value: exactMatch http://identifiers.org/omim/241410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855840
property_value: exactMatch NCIT:C133727
property_value: exactMatch Orphanet:2323

[Term]
id: MONDO:0009427
name: infantile hypophosphatasia
def: "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia (see this term) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [Orphanet:247651]
subset: ordo_clinical_subtype {source="Orphanet:247651"}
synonym: "HOPS" EXACT [DOID:0110914, OMIM:241500]
synonym: "hypophosphatasia, infantile" RELATED [OMIM:241500]
synonym: "hypophosphatasia, perinatal lethal" RELATED [OMIM:241500]
synonym: "infantile phosphoethanolaminuria" EXACT [Orphanet:247651]
synonym: "infantile Rathburn disease" EXACT [Orphanet:247651]
synonym: "phosphoethanolaminuria" EXACT EXCLUDE [DOID:0110914]
xref: DOID:0110914 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:247651/attributed", source="ORDO:247651/ntbt", source="Orphanet:247651"}
xref: OMIM:241500 {source="DOID:0110914", source="MONDO:equivalentTo", source="Orphanet:247651", source="ORDO:247651/e"}
xref: Orphanet:247651 {source="DOID:0110914", source="MONDO:equivalentTo", source="OMIM:241500"}
xref: SCTID:55236002 {source="MONDO:kboom-pr-0.91/0.76/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C0268412 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241500", source="Orphanet:247651", source="ORDO:247651/e"}
is_a: MONDO:0018570 {source="DC-OMIM:241500", source="DOID:0110914", source="Orphanet:247651"} ! hypophosphatasia
is_a: MONDO:0020014 {source="Orphanet:247651"} ! rare disease with odontological manifestation
property_value: exactMatch DOID:0110914
property_value: exactMatch http://identifiers.org/omim/241500
property_value: exactMatch http://identifiers.org/snomedct/55236002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268412
property_value: exactMatch Orphanet:247651

[Term]
id: MONDO:0009428
name: childhood hypophosphatasia
def: "Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." [Orphanet:247667]
subset: gard_rare {source="GARD:0008735"}
subset: ordo_clinical_subtype {source="Orphanet:247667"}
synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735]
synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667]
synonym: "childhood-onset Rathburn disease" EXACT [Orphanet:247667]
synonym: "hypophosphatasia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510]
synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric hypophosphatasia" RELATED [MONDO:patterns/childhood]
xref: DOID:0110915 {source="MONDO:equivalentTo"}
xref: GARD:0008735 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="Orphanet:247667", source="ORDO:247667/attributed", source="ORDO:247667/ntbt"}
xref: MESH:C562440 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241510 {source="ORDO:247667/e", source="Orphanet:247667", source="MONDO:equivalentTo", source="DOID:0110915"}
xref: Orphanet:247667 {source="MONDO:equivalentTo", source="DOID:0110915", source="OMIM:241510"}
xref: SCTID:30174008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.68/0.83"}
xref: UMLS:C0220743 {source="MEDGEN:kboom-pr98-c99", source="ORDO:247667/e", source="NCBI:mim2gene_medline", source="Orphanet:247667", source="MONDO:equivalentTo", source="OMIM:241510"}
is_a: MONDO:0018570 {source="DC-OMIM:241510", source="DOID:0110915", source="MESH:C562440", source="MONDO:Redundant", source="Orphanet:247667"} ! hypophosphatasia
is_a: MONDO:0020014 {source="Orphanet:247667"} ! rare disease with odontological manifestation
property_value: exactMatch DOID:0110915
property_value: exactMatch http://identifiers.org/mesh/C562440
property_value: exactMatch http://identifiers.org/omim/241510
property_value: exactMatch http://identifiers.org/snomedct/30174008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220743
property_value: exactMatch Orphanet:247667
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia xsd:anyURI {source="GARD:0008735"}

[Term]
id: MONDO:0009429
name: hypophosphatemia, renal, with intracerebral calcifications
synonym: "hypophosphatemia, renal, with intracerebral calcifications" EXACT [OMIM:241519]
xref: MESH:C565478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241519 {source="MONDO:equivalentTo"}
xref: UMLS:C1855809 {source="OMIM:241519", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565478/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565478
property_value: exactMatch http://identifiers.org/omim/241519
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855809

[Term]
id: MONDO:0009430
name: hypophosphatemic rickets, autosomal recessive, 1
def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Arhr" RELATED [OMIM:241520]
synonym: "ARHR1" RELATED [MONDO:Lexical, OMIM:241520]
synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" EXACT [MONDO:design_pattern]
synonym: "DMP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemia, autosomal recessive" RELATED [OMIM:241520]
synonym: "hypophosphatemic rickets, autosomal recessive, 1" EXACT [MONDO:Lexical, OMIM:241520]
synonym: "hypophosphatemic rickets, autosomal recessive, 1; ARHR1" RELATED [OMIM:241520]
synonym: "hypophosphatemic rickets, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:241520]
xref: MESH:C562792 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241520 {source="MONDO:equivalentTo"}
xref: UMLS:C0342643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241520"}
is_a: MONDO:0017324 {source="MONDO:Redundant", source="MONDOLEX:0009430", source="ORDO:289176/btnt"} ! autosomal recessive hypophosphatemic rickets
property_value: exactMatch http://identifiers.org/mesh/C562792
property_value: exactMatch http://identifiers.org/omim/241520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342643

[Term]
id: MONDO:0009431
name: hereditary hypophosphatemic rickets with hypercalciuria
def: "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." [Orphanet:157215]
subset: ordo_disease {source="Orphanet:157215"}
synonym: "HHRH" EXACT [MONDO:Lexical, OMIM:241530, Orphanet:157215]
synonym: "hypercalciuric hypophosphatemic rickets" EXACT [NCIT:C131450]
synonym: "hypercalciuric rickets" RELATED [OMIM:241530]
synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450]
synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530]
synonym: "hypophosphatemic rickets with hypercalciuria, hereditary; HHRH" RELATED [OMIM:241530]
xref: DOID:0050947 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="Orphanet:157215", source="ORDO:157215/attributed", source="ORDO:157215/ntbt"}
xref: MESH:C562793 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131450 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:241530 {source="Orphanet:157215", source="ORDO:157215/e", source="MONDO:equivalentTo", source="DOID:0050947"}
xref: Orphanet:157215 {source="MONDO:equivalentTo", source="OMIM:241530"}
xref: SCTID:237891005 {source="MONDO:kboom-pr-0.99/0.73/5.06", source="MONDO:equivalentTo"}
xref: UMLS:C1853271 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:157215", source="MONDO:equivalentTo", source="NCIT:C131450"}
is_a: MONDO:0000044 {source="MONDOLEX:0009431", source="NCIT:C131450", source="Orphanet:157215"} ! hereditary hypophosphatemic rickets
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342645
property_value: exactMatch DOID:0050947
property_value: exactMatch http://identifiers.org/mesh/C562793
property_value: exactMatch http://identifiers.org/omim/241530
property_value: exactMatch http://identifiers.org/snomedct/237891005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853271
property_value: exactMatch NCIT:C131450
property_value: exactMatch Orphanet:157215

[Term]
id: MONDO:0009432
name: hypopituitarism, congenital, with central diabetes insipidus
synonym: "hypopituitarism, congenital, with central diabetes insipidus" EXACT [OMIM:241540]
xref: MESH:C565477 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241540 {source="MONDO:equivalentTo"}
xref: UMLS:C1855800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241540"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565477
property_value: exactMatch http://identifiers.org/omim/241540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855800

[Term]
id: MONDO:0009433
name: hypoplastic left heart syndrome 1
def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GJA1 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLHS" BROAD [OMIM:241550]
synonym: "HLHS1" RELATED [MONDO:Lexical, OMIM:241550]
synonym: "hypoplastic left heart syndrome 1" EXACT [MONDO:Lexical, OMIM:241550]
synonym: "hypoplastic left heart syndrome 1; HLHS1" RELATED [OMIM:241550]
synonym: "hypoplastic left heart syndrome caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "hypoplastic left heart syndrome type 1" EXACT [MONDORULE:1, OMIM:241550]
xref: OMIM:241550 {source="MONDO:equivalentTo", source="Orphanet:2248"}
xref: UMLS:CN031062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004933 {source="DC-OMIM:241550", source="MONDO:Redundant", source="MONDOLEX:0009433", source="OMIM:241550"} ! hypoplastic left heart syndrome
property_value: exactMatch http://identifiers.org/omim/241550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031062

[Term]
id: MONDO:0009434
name: hypoproteinemia, hypercatabolic
synonym: "B2M deficiency" RELATED [OMIM:241600]
synonym: "Beta-2-microglobulin deficiency" RELATED [OMIM:241600]
synonym: "hypoproteinemia, hypercatabolic" EXACT [OMIM:241600]
synonym: "IMD43" RELATED [OMIM:241600]
synonym: "immunodeficiency 43" RELATED [OMIM:241600]
synonym: "immunodeficiency 43; IMD43" RELATED [OMIM:241600]
xref: MESH:C565476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241600 {source="MONDO:equivalentTo"}
xref: UMLS:C1855796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241600"}
is_a: MONDO:0011476 ! MHC class I deficiency
property_value: exactMatch http://identifiers.org/mesh/C565476
property_value: exactMatch http://identifiers.org/omim/241600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855796

[Term]
id: MONDO:0009435
name: hypospadias-intellectual disability, Goldblatt type syndrome
def: "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." [Orphanet:2261]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2261"}
synonym: "Goldblatt Wallis syndrome" RELATED [GARD:0002928]
synonym: "Goldblatt-Wallis syndrome" EXACT [Orphanet:2261]
synonym: "hypospadias intellectual deficit Goldblatt type" RELATED [GARD:0002928]
synonym: "hypospadias mental retardation Goldblatt type" RELATED [GARD:0002928]
synonym: "hypospadias mental retardation syndrome" RELATED [GARD:0002928]
synonym: "hypospadias-mental retardation syndrome" RELATED [OMIM:241760]
xref: GARD:0002928 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2261", source="ORDO:2261/attributed", source="ORDO:2261/ntbt"}
xref: MESH:C563067 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:241760 {source="MONDO:equivalentTo", source="Orphanet:2261", source="ORDO:2261/e", source="GARD:0002928"}
xref: Orphanet:2261 {source="MONDO:equivalentTo", source="OMIM:241760", source="GARD:0002928"}
xref: SCTID:716096005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2261", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015620 {source="Orphanet:2261"} ! syndromic urogenital tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795989
property_value: exactMatch http://identifiers.org/mesh/C563067
property_value: exactMatch http://identifiers.org/omim/241760
property_value: exactMatch http://identifiers.org/snomedct/716096005
property_value: exactMatch Orphanet:2261
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type xsd:anyURI {source="GARD:0002928"}

[Term]
id: MONDO:0009436
name: congenital hypothalamic hamartoma syndrome
def: "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty . Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery , or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome ), the majority of cases are sporadic." [https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas]
comment: Editor note: obsoleted in ORDO
subset: gard_rare {source="GARD:0002934"}
synonym: "congenital hypothalamic hamartoma syndrome" RELATED [OMIM:241800]
synonym: "hamartoma of hypothalamus" EXACT [NCIT:C4385]
synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934]
synonym: "hypothalamic hamartoma" EXACT [NCIT:C4385]
synonym: "hypothalamic hamartomas" EXACT [OMIM:241800]
xref: GARD:0002934 {source="MONDO:equivalentTo"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537158 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4385 {source="MONDO:equivalentTo"}
xref: OMIM:241800 {source="MONDO:equivalentTo"}
xref: Orphanet:2113 {source="OMIM:241800", source="MONDO:obsoleteEquivalent", source="MONDO:obsolete"}
xref: SCTID:237714006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46"}
is_a: MONDO:0007804 ! Pallister-hall syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342418
property_value: exactMatch http://identifiers.org/mesh/C537158
property_value: exactMatch http://identifiers.org/omim/241800
property_value: exactMatch http://identifiers.org/snomedct/237714006
property_value: exactMatch NCIT:C4385
property_value: exactMatch Orphanet:2113
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas xsd:anyURI {source="GARD:0002934"}

[Term]
id: MONDO:0009437
name: Bamforth-Lazarus syndrome
def: "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." [Orphanet:1226]
subset: ordo_malformation_syndrome {source="Orphanet:1226"}
synonym: "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" EXACT [Orphanet:1226]
synonym: "Bamforth syndrome" EXACT [Orphanet:1226]
synonym: "Bamforth-Lazarus syndrome" EXACT [OMIM:241850]
synonym: "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate" RELATED [GARD:0000414]
synonym: "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate" EXACT [DOID:0050655]
synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [OMIM:241850]
synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226]
xref: DOID:0050655 {source="MONDO:equivalentTo"}
xref: GARD:0000414 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E03.1 {source="ORDO:1226/attributed", source="ORDO:1226/ntbt", source="Orphanet:1226"}
xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="ORDO:1226/e", source="MONDO:ontobio"}
xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="ORDO:1226/e"}
xref: Orphanet:1226 {source="MONDO:equivalentTo", source="OMIM:241850"}
xref: SCTID:722375007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:1226"} ! orofacial clefting syndrome
is_a: MONDO:0015778 {source="Orphanet:1226"} ! syndromic hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968699
property_value: exactMatch DOID:0050655
property_value: exactMatch http://identifiers.org/mesh/C537901
property_value: exactMatch http://identifiers.org/omim/241850
property_value: exactMatch http://identifiers.org/snomedct/722375007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855794
property_value: exactMatch Orphanet:1226

[Term]
id: MONDO:0009438
name: hypouricemia, hypercalcinuria, and decreased bone density
synonym: "hypouricemia, hypercalcinuria, and decreased bone density" EXACT [OMIM:242050]
xref: MESH:C565475 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242050 {source="MONDO:equivalentTo"}
xref: UMLS:C1855793 {source="OMIM:242050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009071 {source="ORDO:94088/btnt"} ! hereditary renal hypouricemia
property_value: exactMatch http://identifiers.org/mesh/C565475
property_value: exactMatch http://identifiers.org/omim/242050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855793

[Term]
id: MONDO:0009439
name: autosomal recessive congenital ichthyosis 2
def: "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." [NCIT:C132827]
synonym: "ARCI2" EXACT [DOID:0060710, MONDO:Lexical, OMIM:242100]
synonym: "autosomal recessive congenital ichthyosis type 2" EXACT [DOID:0060710, MONDORULE:1]
synonym: "Brocq congenital ichthyosiform erythroderma nonbullous form" EXACT [DOID:0060710]
synonym: "collodion baby, self-healing" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, congenital, nonbullous, 1" RELATED [GARD:0009736]
synonym: "ichthyosiform erythroderma, nonbullous congenital, 1" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, nonbullous congenital, 1, formerly" RELATED [OMIM:242100]
synonym: "ichthyosis, congenital, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:242100]
synonym: "ichthyosis, congenital, autosomal recessive 2; ARCI2" RELATED [OMIM:242100]
synonym: "ichthyosis, congenital, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:242100]
synonym: "NBCIE" RELATED [GARD:0009736]
synonym: "NCIE" RELATED [GARD:0009736]
synonym: "NCIE1" EXACT [DOID:0060710]
synonym: "nonbullous congenital ichthyosiform erythroderma 1" EXACT [DOID:0060710]
xref: DOID:0060710 {source="MONDO:equivalentTo"}
xref: GARD:0009736 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q80.2 {source="DOID:0060710"}
xref: NCIT:C132827 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:242100 {source="DOID:0060710", source="MONDO:equivalentTo"}
is_a: MONDO:0017267 {source="MONDO:Redundant", source="ORDO:281122/btnt", source="indirect"} ! self-healing collodion baby
is_a: MONDO:0019306 {source="MONDO:Redundant", source="ORDO:79394/btnt", source="indirect"} ! congenital non-bullous ichthyosiform erythroderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855792
property_value: exactMatch DOID:0060710
property_value: exactMatch http://identifiers.org/omim/242100
property_value: exactMatch NCIT:C132827

[Term]
id: MONDO:0009440
name: ichthyosiform erythroderma, corneal involvement, and deafness
synonym: "Desmons syndrome" RELATED [OMIM:242150]
synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" EXACT [OMIM:242150]
synonym: "ichthyosiform erythroderma, corneal involvement, deafness" RELATED [GARD:0002946]
synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [OMIM:242150]
synonym: "Kid syndrome, autosomal recessive" RELATED [OMIM:242150]
xref: GARD:0002946 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537363 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242150 {source="MONDO:equivalentTo"}
xref: SCTID:403780007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C1275089 {source="OMIM:242150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018781 {source="ORDO:477/btnt"} ! KID syndrome
property_value: exactMatch http://identifiers.org/mesh/C537363
property_value: exactMatch http://identifiers.org/omim/242150
property_value: exactMatch http://identifiers.org/snomedct/403780007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275089

[Term]
id: MONDO:0009441
name: autosomal recessive congenital ichthyosis 1
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "ARCI1" EXACT [DOID:0060656, MONDO:Lexical, OMIM:242300]
synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [DOID:0060656, MONDORULE:1]
synonym: "bathing suit ichthyosis" NARROW [DOID:0060656]
synonym: "collodion baby, self-healing" RELATED [OMIM:242300]
synonym: "collodion fetus" RELATED [GARD:0003170, OMIM:242300]
synonym: "desquamation of newborn" RELATED [GARD:0003170, OMIM:242300]
synonym: "ichthyosis congenita" RELATED [GARD:0003170, OMIM:242300]
synonym: "ichthyosis congenita 2" RELATED [OMIM:242300]
synonym: "ichthyosis lamellar 1" RELATED [GARD:0003170]
synonym: "ichthyosis, congenital, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:242300]
synonym: "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution" RELATED [OMIM:242300]
synonym: "ichthyosis, congenital, autosomal recessive 1; ARCI1" RELATED [OMIM:242300]
synonym: "ichthyosis, congenital, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:242300]
synonym: "ichthyosis, lamellar, 1" RELATED [OMIM:242300]
synonym: "ichthyosis, lamellar, 1, formerly" RELATED [OMIM:242300]
synonym: "lamellar exfoliation of newborn" RELATED [GARD:0003170, OMIM:242300]
synonym: "lamellar ichthyosis, type 1" RELATED [GARD:0003170]
synonym: "LI1" RELATED [GARD:0003170]
xref: DOID:0060656 {source="MONDO:equivalentTo"}
xref: GARD:0003170 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060656"}
xref: OMIM:242300 {source="MONDO:equivalentTo", source="DOID:0060656", source="GARD:0003170"}
xref: UMLS:C3536797 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242300"}
is_a: MONDO:0017265 {source="DC-OMIM:242300", source="DOID:0060656", source="MONDO:Redundant", source="OMIM:242300"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch DOID:0060656
property_value: exactMatch http://identifiers.org/omim/242300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536797
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 xsd:anyURI {source="GARD:0003170"}

[Term]
id: MONDO:0009442
name: ichthyosis congenita with biliary atresia
subset: gard_rare
synonym: "congenital ichthyosis with biliary atresia" RELATED [GARD:0002948]
synonym: "ichthyosis congenita biliary atresia" RELATED [GARD:0002948]
synonym: "ichthyosis congenita with biliary atresia" EXACT [OMIM:242400]
xref: GARD:0002948 {source="MONDO:equivalentTo"}
xref: MESH:C562886 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242400 {source="MONDO:equivalentTo", source="GARD:0002948"}
xref: SCTID:235916001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003847 {source="MESH:C562886/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0400974
property_value: closeMatch Orphanet:2270
property_value: exactMatch http://identifiers.org/mesh/C562886
property_value: exactMatch http://identifiers.org/omim/242400
property_value: exactMatch http://identifiers.org/snomedct/235916001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia xsd:anyURI {source="GARD:0002948"}

[Term]
id: MONDO:0009443
name: autosomal recessive congenital ichthyosis 4B
def: "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." [Orphanet:457]
subset: ordo_disease {source="Orphanet:457"}
synonym: "'Harlequin fetus'" RELATED [OMIM:242500]
synonym: "ARCI4B" EXACT [DOID:0060713, MONDO:Lexical, OMIM:242500]
synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [DOID:0060713, MONDORULE:4]
synonym: "Harlequin fetus" RELATED [GARD:0006568]
synonym: "harlequin ichthyosis" EXACT [DOID:0060713]
synonym: "harlequin type ichthyosis congenita" EXACT [DOID:0060713]
synonym: "harlequin type ichthyosis fetalis" EXACT [DOID:0060713]
synonym: "hi" EXACT [Orphanet:457]
synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [OMIM:242500]
synonym: "ichthyosis congenita, Harlequin type" EXACT [Orphanet:457]
synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457]
synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500]
synonym: "ichthyosis, congenital, autosomal recessive 4B; ARCI4B" RELATED [OMIM:242500]
synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500]
xref: DOID:0060713 {source="MONDO:equivalentTo"}
xref: GARD:0006568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q80.4 {source="Orphanet:457", source="ORDO:457/specific", source="DOID:0060713", source="ORDO:457/e"}
xref: MedDRA:10019163 {source="Orphanet:457", source="ORDO:457/e"}
xref: NCIT:C98934 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:242500 {source="Orphanet:457", source="MONDO:equivalentTo", source="DOID:0060713", source="ORDO:457/e"}
xref: Orphanet:457 {source="MONDO:equivalentTo", source="DOID:0060713", source="OMIM:242500"}
xref: SCTID:205548006 {source="MONDO:kboom-pr-0.89/0.77/0.13", source="MONDO:equivalentTo"}
xref: UMLS:C0239849 {source="NCIT:C98934", source="Orphanet:457", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242500", source="ORDO:457/e"}
is_a: MONDO:0011026 ! autosomal recessive congenital ichthyosis 4A
property_value: exactMatch DOID:0060713
property_value: exactMatch http://identifiers.org/meddra/10019163
property_value: exactMatch http://identifiers.org/omim/242500
property_value: exactMatch http://identifiers.org/snomedct/205548006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598226
property_value: exactMatch NCIT:C98934
property_value: exactMatch Orphanet:457

[Term]
id: MONDO:0009444
name: ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
def: "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." [Orphanet:2269]
subset: ordo_disease {source="Orphanet:2269"}
synonym: "ichthyosis alopecia eclabion ectropion mental retardation" RELATED [GARD:0000292]
synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED [OMIM:242510]
synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292]
synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269]
xref: GARD:0000292 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537364 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242510 {source="Orphanet:2269", source="ORDO:2269/e", source="MONDO:equivalentTo"}
xref: Orphanet:2269 {source="MONDO:equivalentTo", source="OMIM:242510"}
xref: UMLS:C1855788 {source="Orphanet:2269", source="NCBI:mim2gene_medline", source="ORDO:2269/e", source="MONDO:equivalentTo", source="OMIM:242510", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:2269"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017272 {source="Orphanet:2269"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:2269"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537364
property_value: exactMatch http://identifiers.org/omim/242510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855788
property_value: exactMatch Orphanet:2269

[Term]
id: MONDO:0009445
name: ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
def: "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." [Orphanet:2274]
subset: ordo_disease {source="Orphanet:2274"}
synonym: "Dykes Markes Harper syndrome" RELATED [GARD:0001993]
synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274]
synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274]
synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520]
xref: GARD:0001993 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2274/attributed", source="ORDO:2274/ntbt", source="Orphanet:2274"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535727 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242520 {source="MONDO:equivalentTo", source="Orphanet:2274", source="ORDO:2274/e"}
xref: Orphanet:2274 {source="MONDO:equivalentTo", source="OMIM:242520"}
xref: SCTID:403779009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C1275088 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242520", source="Orphanet:2274", source="ORDO:2274/e"}
is_a: MONDO:0000557 {source="Orphanet:2274"} ! hereditary ataxia
is_a: MONDO:0017274 {source="Orphanet:2274"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C535727
property_value: exactMatch http://identifiers.org/omim/242520
property_value: exactMatch http://identifiers.org/snomedct/403779009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275088
property_value: exactMatch Orphanet:2274

[Term]
id: MONDO:0009446
name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
def: "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." [Orphanet:2278]
subset: ordo_malformation_syndrome {source="Orphanet:2278"}
synonym: "ichthyosis intellectual deficit dwarfism renal impairment" RELATED [GARD:0004641]
synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED [GARD:0004641]
synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED [OMIM:242530]
synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278]
xref: GARD:0004641 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536274 {source="Orphanet:2278", source="ORDO:2278/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242530 {source="Orphanet:2278", source="ORDO:2278/e", source="MONDO:equivalentTo"}
xref: Orphanet:2278 {source="MONDO:equivalentTo", source="OMIM:242530"}
xref: UMLS:C1855787 {source="Orphanet:2278", source="ORDO:2278/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242530", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017274 {source="Orphanet:2278"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0019721 {source="Orphanet:2278"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C536274
property_value: exactMatch http://identifiers.org/omim/242530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855787
property_value: exactMatch Orphanet:2278

[Term]
id: MONDO:0009447
name: ichthyosis, split hairs, and amino aciduria
synonym: "ichthyosis, split hairs, and amino aciduria" EXACT [OMIM:242550]
xref: MESH:C565471 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242550 {source="MONDO:equivalentTo"}
xref: UMLS:C1855786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242550"}
is_a: MONDO:0003847 {source="MESH:C565471/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565471
property_value: exactMatch http://identifiers.org/omim/242550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855786

[Term]
id: MONDO:0009448
name: iminoglycinuria
def: "Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." [Orphanet:42062]
subset: gard_rare {source="GARD:0008424"}
subset: ordo_disease {source="Orphanet:42062"}
synonym: "iminoglycinuria" EXACT [OMIM:242600]
xref: GARD:0008424 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="ORDO:42062/attributed", source="ORDO:42062/ntbt", source="Orphanet:42062"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536285 {source="MONDO:equivalentTo", source="ORDO:42062/e", source="MONDO:ontobio", source="Orphanet:42062"}
xref: OMIM:242600 {source="MONDO:equivalentTo", source="ORDO:42062/e", source="Orphanet:42062"}
xref: Orphanet:42062 {source="MONDO:equivalentTo", source="OMIM:242600"}
xref: SCTID:84121007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0268654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:42062/e", source="Orphanet:42062", source="OMIM:242600"}
is_a: MONDO:0017687 {source="Orphanet:42062"} ! disorder of neutral amino acid transport
property_value: exactMatch http://identifiers.org/mesh/C536285
property_value: exactMatch http://identifiers.org/omim/242600
property_value: exactMatch http://identifiers.org/snomedct/84121007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268654
property_value: exactMatch Orphanet:42062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria xsd:anyURI {source="GARD:0008424"}

[Term]
id: MONDO:0009449
name: ciliary dyskinesia with defective radial spokes
synonym: "cilia with defective radial spokes" RELATED [GARD:0002981]
synonym: "ciliary dyskinesia with defective radial spokes" EXACT [OMIM:242670]
synonym: "immotile cilia syndrome due to defective radial spokes" RELATED [OMIM:242670]
synonym: "immotile cilia syndrome, due to defective radial spokes" RELATED [GARD:0002981]
xref: GARD:0002981 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536286 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242670 {source="MONDO:equivalentTo"}
xref: SCTID:233664005 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
xref: UMLS:C0340035 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242670"}
is_a: MONDO:0016575 {source="MESH:C536286"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/mesh/C536286
property_value: exactMatch http://identifiers.org/omim/242670
property_value: exactMatch http://identifiers.org/snomedct/233664005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340035

[Term]
id: MONDO:0009450
name: ciliary dyskinesia with excessively long cilia
subset: gard_rare {source="GARD:0002982"}
synonym: "ciliary dyskinesia with excessively long cilia" EXACT [OMIM:242680]
synonym: "immotile cilia syndrome due to excessively long cilia" RELATED [OMIM:242680]
xref: GARD:0002982 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242680 {source="MONDO:equivalentTo"}
xref: SCTID:233665006 {source="MONDO:kboom-pr-1.00/0.78/6.97", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="MESH:C536287"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340036
property_value: exactMatch http://identifiers.org/mesh/C536287
property_value: exactMatch http://identifiers.org/omim/242680
property_value: exactMatch http://identifiers.org/snomedct/233665006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia xsd:anyURI {source="GARD:0002982"}

[Term]
id: MONDO:0009451
name: Nezelof syndrome
subset: ordo_disease {source="Orphanet:83471"}
synonym: "immune defect due to absence Of Thymus" RELATED [MESH:C536288]
synonym: "immune defect due to absence of THYMUS" RELATED [OMIM:242700]
synonym: "Nezelof syndrome" EXACT [OMIM:242700, Orphanet:83471]
synonym: "Nezelof's syndrome" EXACT [DOID:2012, ICD9CM_2006:279.13]
synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700]
synonym: "thymic aplasia" RELATED [OMIM:242700]
xref: DOID:2012 {source="MONDO:equivalentTo"}
xref: GARD:0007201 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D81.4 {source="DOID:2012", source="ORDO:83471/specific", source="ORDO:83471/e", source="Orphanet:83471"}
xref: ICD9:279.13 {source="DOID:2012"}
xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242700 {source="DOID:2012", source="MONDO:equivalentTo", source="ORDO:83471/e", source="Orphanet:83471"}
xref: Orphanet:83471 {source="MONDO:equivalentTo", source="OMIM:242700"}
xref: SCTID:55602000 {source="DOID:2012", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN206066 {source="MONDO:equivalentTo"}
is_a: MONDO:0001222 {source="DOID:2012"} ! congenital T-cell immunodeficiency
is_a: MONDO:0018036 {source="Orphanet:83471"} ! immunodeficiency due to absence of thymus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152094
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0685894
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1744558
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752083
property_value: exactMatch DOID:2012
property_value: exactMatch http://identifiers.org/mesh/C536288
property_value: exactMatch http://identifiers.org/omim/242700
property_value: exactMatch http://identifiers.org/snomedct/55602000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206066
property_value: exactMatch Orphanet:83471

[Term]
id: MONDO:0009452
name: Vici syndrome
def: "Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." [Orphanet:1493]
subset: gard_rare {source="GARD:0000448"}
subset: ordo_malformation_syndrome {source="Orphanet:1493"}
synonym: "absent corpus callosum cataract immunodeficiency" RELATED [GARD:0000448]
synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493]
synonym: "corpus callosum agenesis-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493]
synonym: "Dionisi Vici Sabetta Gambarara syndrome" RELATED [GARD:0000448]
synonym: "Dionisi-Vici-Sabetta-Gambarara syndrome" EXACT [Orphanet:1493]
synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" RELATED [GARD:0000448]
synonym: "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum" RELATED [OMIM:242840]
synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [DOID:0060356]
synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840]
synonym: "Vici syndrome; VICIS" RELATED [OMIM:242840]
synonym: "VICIS" RELATED [MONDO:Lexical, OMIM:242840]
xref: DOID:0060356 {source="MONDO:equivalentTo"}
xref: GARD:0000448 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1493/attributed", source="ORDO:1493/ntbt", source="Orphanet:1493"}
xref: MESH:C535566 {source="DOID:0060356", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C138174 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:242840 {source="DOID:0060356", source="MONDO:equivalentTo", source="Orphanet:1493", source="ORDO:1493/e"}
xref: Orphanet:1493 {source="DOID:0060356", source="MONDO:equivalentTo", source="OMIM:242840"}
xref: SCTID:719824001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1855772 {source="MEDGEN:kboom-pr97-c99", source="DOID:0060356", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242840", source="Orphanet:1493", source="ORDO:1493/e"}
is_a: MONDO:0006025 {source="DOID:0060356", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0016337 {source="Orphanet:1493"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0017122 {source="Orphanet:1493"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0018035 {source="Orphanet:1493"} ! syndrome with combined immunodeficiency
is_a: MONDO:0019290 {source="Orphanet:1493"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0020225 {source="Orphanet:1493"} ! syndromic cataract
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1493"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060356
property_value: exactMatch http://identifiers.org/mesh/C535566
property_value: exactMatch http://identifiers.org/omim/242840
property_value: exactMatch http://identifiers.org/snomedct/719824001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855772
property_value: exactMatch NCIT:C138174
property_value: exactMatch Orphanet:1493
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/448/vici-syndrome xsd:anyURI {source="GARD:0000448"}

[Term]
id: MONDO:0009453
name: immune deficiency disease
synonym: "immune deficiency disease" EXACT [OMIM:242850]
xref: MESH:C565469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242850 {source="MONDO:equivalentTo"}
xref: UMLS:C1855771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242850"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disease
relationship: excluded_subClassOf MONDO:0003778 {source="DC-OMIM:242850", source="MESH:C565469"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/mesh/C565469
property_value: exactMatch http://identifiers.org/omim/242850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855771

[Term]
id: MONDO:0009454
name: immunodeficiency-centromeric instability-facial anomalies syndrome 1
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "centromeric instability, immunodeficiency syndrome" RELATED [OMIM:242860]
synonym: "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 1" EXACT [DOID:0090008]
synonym: "ICF1" RELATED [MONDO:Lexical, OMIM:242860]
synonym: "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" RELATED [OMIM:242860]
synonym: "immunodeficiency syndrome, variable" RELATED [OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1" EXACT [MONDO:Lexical, OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1; ICF1" RELATED [OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1, OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [DOID:0090008, MONDORULE:1]
xref: DOID:0090008 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="DOID:0090008"}
xref: OMIM:242860 {source="MONDO:equivalentTo", source="DOID:0090008"}
is_a: MONDO:0000133 {source="DC-OMIM:242860", source="DOID:0090008", source="MONDO:Redundant", source="OMIM:242860"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398788
property_value: exactMatch DOID:0090008
property_value: exactMatch http://identifiers.org/omim/242860

[Term]
id: MONDO:0009455
name: immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes
synonym: "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" EXACT [OMIM:242870]
xref: MESH:C565468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:242870 {source="MONDO:equivalentTo"}
xref: UMLS:C1855762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242870"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565468
property_value: exactMatch http://identifiers.org/omim/242870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855762

[Term]
id: MONDO:0009456
name: Immunoerythromyeloid hypoplasia
synonym: "Immunoerythromyeloid hypoplasia" EXACT [OMIM:242880]
xref: OMIM:242880 {source="MONDO:equivalentTo"}
xref: UMLS:CN074232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009973 ! reticular dysgenesis
property_value: exactMatch http://identifiers.org/omim/242880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074232

[Term]
id: MONDO:0009457
name: immunoglobulin d level in plasma, low
synonym: "IMMUNOGLOBULIN D level in plasma, LOW" RELATED [OMIM:242890]
xref: OMIM:242890 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855761
property_value: exactMatch http://identifiers.org/omim/242890

[Term]
id: MONDO:0009458
name: Schimke immuno-osseous dysplasia
def: "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." [Orphanet:1830]
subset: clingen
subset: ordo_disease {source="Orphanet:1830"}
synonym: "immunoosseous dysplasia Schimke type" EXACT [DOID:0060490]
synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [OMIM:242900]
synonym: "Schimke Immunoosseous dysplasia" RELATED [OMIM:242900]
synonym: "Schimke immunoosseous dysplasia" EXACT [DOID:0060490]
synonym: "Schimke IMMUNOOSSEOUS dysplasia; SIOD" RELATED [OMIM:242900]
synonym: "Schimke syndrome" EXACT [DOID:0060490, Orphanet:1830]
synonym: "SIOD" RELATED [GARD:0004984, OMIM:242900]
synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490]
synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984]
synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830]
xref: DOID:0060490 {source="MONDO:equivalentTo"}
xref: GARD:0004984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:1830/attributed", source="ORDO:1830/ntbt", source="Orphanet:1830"}
xref: MedDRA:10048699 {source="ORDO:1830/e", source="Orphanet:1830"}
xref: MESH:C536629 {source="ORDO:1830/e", source="MONDO:equivalentTo", source="Orphanet:1830", source="MONDO:ontobio", source="DOID:0060490"}
xref: NCIT:C135087 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:242900 {source="ORDO:1830/e", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490"}
xref: Orphanet:1830 {source="OMIM:242900", source="MONDO:equivalentTo", source="DOID:0060490"}
xref: SCTID:723995003 {source="MONDO:equivalentTo"}
xref: UMLS:C0877024 {source="OMIM:242900", source="ORDO:1830/e", source="NCBI:mim2gene_medline", source="NCIT:C135087", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490"}
is_a: MONDO:0015163 {source="Orphanet:1830"} ! primary glomerular disease
is_a: MONDO:0015708 {source="Orphanet:1830"} ! immuno-osseous dysplasia
is_a: MONDO:0015877 {source="Orphanet:1830"} ! malformative syndrome with dentinogenesis imperfecta
is_a: MONDO:0016761 {source="DOID:0060490", source="Orphanet:1830"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0060490
property_value: exactMatch http://identifiers.org/meddra/10048699
property_value: exactMatch http://identifiers.org/mesh/C536629
property_value: exactMatch http://identifiers.org/omim/242900
property_value: exactMatch http://identifiers.org/snomedct/723995003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877024
property_value: exactMatch NCIT:C135087
property_value: exactMatch Orphanet:1830

[Term]
id: MONDO:0009459
name: channelopathy-associated congenital insensitivity to pain, autosomal recessive
def: "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699]
subset: ordo_disease {source="Orphanet:88642"}
synonym: "asymbolia for pain" RELATED [OMIM:243000]
synonym: "channelopathy-associated CIP" EXACT [Orphanet:88642]
synonym: "CIP" RELATED [MONDO:Lexical, OMIM:243000]
synonym: "congenital analgesia, autosomal recessive" RELATED [OMIM:243000]
synonym: "HSAN2D" RELATED [OMIM:243000]
synonym: "HSAN2D, AR" RELATED [OMIM:243000]
synonym: "indifference to pain, congenital, autosomal recessive" RELATED [MONDO:Lexical, OMIM:243000]
synonym: "indifference to pain, congenital, autosomal recessive; CIP" RELATED [OMIM:243000]
synonym: "insensitivity to pain, channelopathy-associated" RELATED [OMIM:243000]
synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000]
xref: GARD:0012267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.8 {source="Orphanet:88642", source="ORDO:88642/attributed", source="ORDO:88642/ntbt"}
xref: OMIM:243000 {source="Orphanet:88642", source="MONDO:equivalentTo", source="ORDO:88642/e"}
xref: Orphanet:88642 {source="MONDO:equivalentTo", source="OMIM:243000"}
xref: UMLS:C1855739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243000"}
is_a: MONDO:0015366 {source="Orphanet:88642"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch http://identifiers.org/mesh/D000699
property_value: exactMatch http://identifiers.org/omim/243000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002768
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855739
property_value: exactMatch Orphanet:88642

[Term]
id: MONDO:0009460
name: Indolylacroyl Glycinuria with mental retardation
synonym: "Indolylacroyl Glycinuria with mental retardation" EXACT [OMIM:243050]
xref: MESH:C565466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243050 {source="MONDO:equivalentTo"}
xref: UMLS:C1855738 {source="OMIM:243050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565466/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565466
property_value: exactMatch http://identifiers.org/omim/243050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855738

[Term]
id: MONDO:0009461
name: male infertility due to large-headed multiflagellar polyploid spermatozoa
def: "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." [Orphanet:137893]
subset: ordo_clinical_subtype {source="Orphanet:137893"}
synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [OMIM:243060]
synonym: "infertility associated with Multitailed spermatozoa and excessive DNA" RELATED [OMIM:243060]
synonym: "macrocephalic sperm head syndrome" EXACT [Orphanet:137893]
synonym: "macrozoospermia" RELATED [GARD:0012385]
synonym: "Male infertility due to macrozoospermia" EXACT [Orphanet:137893]
synonym: "Male infertility with large-headed, multiflagellar, polyploid spermatozoa" RELATED [OMIM:243060]
synonym: "spermatogenic failure 5" RELATED [MONDO:Lexical, OMIM:243060]
synonym: "spermatogenic failure 5; SPGF5" RELATED [OMIM:243060]
synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060]
synonym: "SPGF5" RELATED [MONDO:Lexical, OMIM:243060]
xref: DOID:0070183 {source="MONDO:equivalentTo"}
xref: GARD:0012385 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:137893/attributed", source="ORDO:137893/ntbt", source="Orphanet:137893"}
xref: MESH:C562903 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243060 {source="MONDO:equivalentTo", source="Orphanet:137893", source="ORDO:137893/e"}
xref: Orphanet:137893 {source="OMIM:243060", source="MONDO:equivalentTo"}
xref: SCTID:236806004 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:C0403812 {source="OMIM:243060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137893", source="ORDO:137893/e"}
is_a: MONDO:0004983 {source="DC-OMIM:243060", source="OMIM:243060"} ! azoospermia
is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation
property_value: exactMatch DOID:0070183
property_value: exactMatch http://identifiers.org/mesh/C562903
property_value: exactMatch http://identifiers.org/omim/243060
property_value: exactMatch http://identifiers.org/snomedct/236806004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403812
property_value: exactMatch Orphanet:137893

[Term]
id: MONDO:0009462
name: inosine phosphorylase deficiency, immune defect due to
synonym: "inosine phosphorylase deficiency, immune defect due to" EXACT [OMIM:243080]
xref: MESH:C565465 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243080 {source="MONDO:equivalentTo"}
xref: UMLS:C1855737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243080"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565465
property_value: exactMatch http://identifiers.org/omim/243080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855737

[Term]
id: MONDO:0009463
name: internal carotid arteries, hypoplasia of
synonym: "internal carotid arteries, hypoplasia of" EXACT [OMIM:243100]
xref: OMIM:243100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855736
property_value: exactMatch http://identifiers.org/omim/243100

[Term]
id: MONDO:0009464
name: immunodeficiency with defective T-cell response to interleukin 1
synonym: "immunodeficiency with defective T-cell response to interleukin 1" EXACT [OMIM:243110]
synonym: "immunodeficiency with defective T-cell response to Interleukin type 1" EXACT [MONDORULE:1, OMIM:243110]
synonym: "Interleukin 1, defective T-cell response to" RELATED [OMIM:243110]
xref: OMIM:243110 {source="MONDO:equivalentTo"}
xref: UMLS:C1855735 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243110"}
is_a: MONDO:0003778 {source="DC-OMIM:243110"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/243110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855735

[Term]
id: MONDO:0009465
name: multiple intestinal atresia
def: "Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." [https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple]
subset: gard_rare {source="GARD:0003013"}
subset: ordo_disease {source="Orphanet:436252"}
subset: ordo_morphological_anomaly {source="Orphanet:2300"}
synonym: "Cid-MIA/early-onset IBD" EXACT [Orphanet:436252]
synonym: "combined immunodeficiency-enteropathy spectrum" RELATED [Orphanet:436252]
synonym: "familial intestinal polyatresia syndrome" EXACT [OMIM:243150, Orphanet:2300]
synonym: "gastrointestinal defects and immunodeficiency syndrome" RELATED [MONDO:Lexical, OMIM:243150]
synonym: "gastrointestinal defects and immunodeficiency syndrome; GIDID" RELATED [OMIM:243150]
synonym: "GIDID" RELATED [MONDO:Lexical, OMIM:243150]
synonym: "intestinal atresia multiple" RELATED [GARD:0003013]
synonym: "intestinal atresia, multiple" RELATED [OMIM:243150]
synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" RELATED [OMIM:243150]
synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671]
xref: DOID:14671 {source="MONDO:equivalentTo"}
xref: GARD:0003013 {source="MONDO:equivalentTo"}
xref: ICD10:Q43.8 {source="Orphanet:2300", source="ORDO:2300/attributed", source="ORDO:2300/ntbt"}
xref: ICD10:Q82.8 {source="ORDO:436252/attributed", source="ORDO:436252/ntbt", source="Orphanet:436252"}
xref: ICD9:751.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10028210 {source="Orphanet:2300", source="ORDO:2300/e"}
xref: MESH:C562441 {source="MONDO:equivalentTo", source="DOID:14671", source="MONDO:ontobio"}
xref: OMIM:243150 {source="Orphanet:2300", source="MONDO:equivalentTo", source="ORDO:2300/ntbt", source="ORDO:436252/e", source="DOID:14671", source="Orphanet:436252"}
xref: Orphanet:2300 {source="OMIM:243150", source="MONDO:equivalentTo"}
xref: Orphanet:436252 {source="MONDO:equivalentTo"}
xref: SCTID:95472001 {source="MONDO:equivalentTo", source="DOID:14671", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006025 {source="DOID:14671", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015211 {source="Orphanet:2300"} ! non-syndromic intestinal malformation
is_a: MONDO:0018035 {source="Orphanet:2300", source="Orphanet:436252"} ! syndrome with combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015212 {source="Orphanet:436252"} ! syndromic intestinal malformation
property_value: exactMatch DOID:14671
property_value: exactMatch http://identifiers.org/meddra/10028210
property_value: exactMatch http://identifiers.org/mesh/C562441
property_value: exactMatch http://identifiers.org/omim/243150
property_value: exactMatch http://identifiers.org/snomedct/95472001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220744
property_value: exactMatch Orphanet:2300
property_value: exactMatch Orphanet:436252
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple xsd:anyURI {source="GARD:0003013"}

[Term]
id: MONDO:0009466
name: neuronal intestinal pseudoobstruction
def: "Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." [Orphanet:99811]
subset: ordo_etiological_subtype {source="Orphanet:99811"}
synonym: "Argyrophil myenteric plexus deficiency of" RELATED [GARD:0003969]
synonym: "Argyrophil myenteric plexus, deficiency of" RELATED [OMIM:243180]
synonym: "intestinal pseudoobstruction due to neuronal disease" RELATED [OMIM:243180]
synonym: "neuronal intestinal dysplasia, type a" RELATED [OMIM:243180]
synonym: "nid a" RELATED [OMIM:243180]
synonym: "pseudoobstruction chronic idiopathic intestinal neuronal type" RELATED [GARD:0003969]
synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELATED [OMIM:243180]
synonym: "visceral neuropathy familial" RELATED [GARD:0003969]
synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [OMIM:243180]
xref: GARD:0003969 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K59.8 {source="Orphanet:99811", source="ORDO:99811/attributed", source="ORDO:99811/ntbt"}
xref: MESH:C537394 {source="ORDO:99811/e", source="Orphanet:99811", source="MONDO:equivalentTo"}
xref: OMIM:243180 {source="MONDO:equivalentTo"}
xref: Orphanet:99811 {source="MONDO:equivalentTo"}
xref: UMLS:C1855733 {source="ORDO:99811/e", source="NCBI:mim2gene_medline", source="Orphanet:99811", source="MONDO:equivalentTo", source="OMIM:243180"}
is_a: MONDO:0000858 {source="DC-OMIM:243180"} ! neuronal intestinal dysplasia
is_a: MONDO:0017574 {source="Orphanet:99811"} ! chronic intestinal pseudoobstruction
property_value: exactMatch http://identifiers.org/mesh/C537394
property_value: exactMatch http://identifiers.org/omim/243180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855733
property_value: exactMatch Orphanet:99811

[Term]
id: MONDO:0009467
name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1654"}
synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [OMIM:243185]
synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" RELATED [GARD:0003928]
xref: GARD:0003928 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1654/attributed", source="ORDO:1654/ntbt", source="Orphanet:1654"}
xref: MESH:C538341 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243185 {source="ORDO:1654/e", source="MONDO:equivalentTo", source="Orphanet:1654"}
xref: Orphanet:1654 {source="OMIM:243185", source="MONDO:equivalentTo"}
xref: UMLS:C1855732 {source="ORDO:1654/e", source="NCBI:mim2gene_medline", source="OMIM:243185", source="MONDO:equivalentTo", source="Orphanet:1654"}
is_a: MONDO:0015336 {source="Orphanet:1654"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C538341
property_value: exactMatch http://identifiers.org/omim/243185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855732
property_value: exactMatch Orphanet:1654

[Term]
id: MONDO:0009468
name: pseudotumor cerebri
def: "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." [Orphanet:238624]
subset: gard_rare {source="GARD:0004561"}
subset: ordo_disease {source="Orphanet:238624"}
synonym: "benign intracran. hypt." EXACT [DOID:11459]
synonym: "benign intracranial hypertension" EXACT [DOID:11459, ICD9CM_2006:348.2, Orphanet:238624]
synonym: "idiopathic intracranial hypertension" EXACT [DOID:11459]
synonym: "IIH" EXACT [Orphanet:238624]
synonym: "intracranial hypertension, idiopathic" RELATED [OMIM:243200]
synonym: "pseudotumor cerebri" EXACT [DOID:11459, MTHICD9_2006:348.2, OMIM:243200, Orphanet:238624]
xref: COHD:312902 {source="MONDO:equivalentTo"}
xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"}
xref: EFO:1001132 {source="MONDO:equivalentTo"}
xref: GARD:0004561 {source="MONDO:equivalentTo"}
xref: ICD10:G93.2 {source="DOID:11459", source="Orphanet:238624", source="ORDO:238624/e"}
xref: ICD9:348.2 {source="DOID:11459", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10037149 {source="EFO:1001132"}
xref: MESH:D011559 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85035 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:243200 {source="DOID:11459", source="Orphanet:238624", source="ORDO:238624/e", source="MONDO:equivalentTo"}
xref: Orphanet:238624 {source="MONDO:equivalentTo", source="OMIM:243200"}
xref: SCTID:68267002 {source="DOID:11459", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0033845 {source="DOID:11459", source="Orphanet:238624", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243200", source="NCIT:C85035"}
is_a: MONDO:0006810 {source="DOID:11459", source="EFO:1001132", source="MESH:D011559", source="MONDOLEX:0009468"} ! intracranial hypertension
is_a: MONDO:0011057 {source="DOID:11459", source="linkedlifedata"} ! cerebrovascular disorder
property_value: closeMatch http://identifiers.org/meddra/10037149
property_value: closeMatch http://identifiers.org/snomedct/155052007
property_value: closeMatch http://identifiers.org/snomedct/267701004
property_value: exactMatch DOID:11459
property_value: exactMatch http://identifiers.org/mesh/D011559
property_value: exactMatch http://identifiers.org/omim/243200
property_value: exactMatch http://identifiers.org/snomedct/68267002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033845
property_value: exactMatch NCIT:C85035
property_value: exactMatch Orphanet:238624
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri xsd:anyURI {source="GARD:0004561"}

[Term]
id: MONDO:0009469
name: benign recurrent intrahepatic cholestasis type 1
def: "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." [GARD:0010028]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:99960"}
synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028]
synonym: "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" EXACT [MONDO:design_pattern]
synonym: "Bric type 1" EXACT [Orphanet:99960]
synonym: "BRIC1" EXACT [GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960]
synonym: "cholestasis, benign recurrent intrahepatic 1" RELATED [GARD:0010028]
synonym: "cholestasis, benign recurrent intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:243300]
synonym: "cholestasis, benign recurrent intrahepatic, 1; BRIC1" RELATED [OMIM:243300]
synonym: "cholestasis, benign recurrent intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:243300]
synonym: "mild ATP8B1 deficiency" RELATED [GARD:0010028]
synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028]
synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300]
xref: DOID:0070231 {source="MONDO:equivalentTo"}
xref: GARD:0010028 {source="MONDO:equivalentTo"}
xref: ICD10:K83.1 {source="ORDO:99960/attributed", source="ORDO:99960/ntbt", source="Orphanet:99960"}
xref: OMIM:243300 {source="MONDO:equivalentTo", source="GARD:0010028", source="ORDO:99960/e", source="Orphanet:99960"}
xref: Orphanet:99960 {source="MONDO:equivalentTo", source="OMIM:243300"}
is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis
is_a: MONDO:0019008 {source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis
property_value: exactMatch DOID:0070231
property_value: exactMatch http://identifiers.org/mesh/C535930
property_value: exactMatch http://identifiers.org/omim/243300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855731
property_value: exactMatch Orphanet:99960
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 xsd:anyURI {source="GARD:0010028"}

[Term]
id: MONDO:0009470
name: Baraitser-Winter syndrome 1
def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "ACTB Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB" EXACT [MONDO:design_pattern]
synonym: "Baraitser-Winter syndrome 1" EXACT [MONDO:Lexical, OMIM:243310]
synonym: "Baraitser-WINTER syndrome 1; BRWS1" RELATED [OMIM:243310]
synonym: "Baraitser-Winter syndrome type 1" EXACT [MONDORULE:1, OMIM:243310]
synonym: "BRWS1" RELATED [MONDO:Lexical, OMIM:243310]
synonym: "cerebrofrontofacial syndrome" EXACT [OMIM:243310]
synonym: "cerebrooculofacial lymphatic syndrome" RELATED [OMIM:243310]
synonym: "chromosome 7P22 deletion syndrome" RELATED [OMIM:243310]
synonym: "Fryns-Aftimos syndrome" EXACT [OMIM:243310]
synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" RELATED [OMIM:243310]
synonym: "mental retardation with epilepsy and characteristic facies" RELATED [OMIM:243310]
synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" RELATED [OMIM:243310]
xref: OMIM:243310 {source="MONDO:equivalentTo"}
xref: UMLS:C1837819 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1853623 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017579 {source="DC-OMIM:243310", source="MONDO:Redundant", source="OMIM:243310"} ! Baraitser-Winter cerebrofrontofacial syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855722
property_value: exactMatch http://identifiers.org/omim/243310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853623

[Term]
id: MONDO:0009471
name: intrinsic factor and r binder, combined congenital deficiency of
synonym: "intrinsic factor and r binder, combined congenital deficiency of" EXACT [OMIM:243320]
xref: MESH:C565461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243320 {source="MONDO:equivalentTo"}
xref: UMLS:C1855721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243320"}
is_a: MONDO:0009852 {source="ORDO:332/btnt"} ! congenital intrinsic factor deficiency
property_value: exactMatch http://identifiers.org/mesh/C565461
property_value: exactMatch http://identifiers.org/omim/243320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855721

[Term]
id: MONDO:0009472
name: acetylation, slow
synonym: "acetylation, Fast" RELATED [OMIM:243400]
synonym: "acetylation, slow" EXACT [OMIM:243400]
synonym: "Fast acetylator phenotype" RELATED [OMIM:243400]
synonym: "INH inactivation, Fast" RELATED [OMIM:243400]
synonym: "INH inactivation, slow" RELATED [OMIM:243400]
synonym: "Isoniazid inactivation, slow" RELATED [OMIM:243400]
synonym: "slow acetylator phenotype" RELATED [OMIM:243400]
xref: OMIM:243400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878587
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1827377
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673468
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673469
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673470
property_value: exactMatch http://identifiers.org/omim/243400

[Term]
id: MONDO:0009473
name: isotretinoin-like syndrome
def: "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." [Orphanet:2306]
subset: ordo_malformation_syndrome {source="Orphanet:2306"}
synonym: "Isotretinoin embryopathy like syndrome" RELATED [GARD:0009675]
synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [OMIM:243440]
synonym: "Kawashima syndrome" EXACT [Orphanet:2306]
synonym: "microtia aortic arch syndrome" RELATED [GARD:0009675]
synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440]
synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306]
synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675]
xref: GARD:0009675 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2306/attributed", source="ORDO:2306/ntbt", source="Orphanet:2306"}
xref: MESH:C535542 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="ORDO:2306/e"}
xref: Orphanet:2306 {source="MONDO:equivalentTo", source="OMIM:243440"}
xref: SCTID:722006004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0043007 {source="Orphanet:2306"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432364
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855715
property_value: exactMatch http://identifiers.org/mesh/C535542
property_value: exactMatch http://identifiers.org/omim/243440
property_value: exactMatch http://identifiers.org/snomedct/722006004
property_value: exactMatch Orphanet:2306

[Term]
id: MONDO:0009474
name: isovaleric acid, inability to smell
synonym: "isovaleric acid, inability to smell" EXACT [OMIM:243450]
xref: OMIM:243450 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855714
property_value: exactMatch http://identifiers.org/omim/243450

[Term]
id: MONDO:0009475
name: isovaleric acidemia
def: "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." [Orphanet:33]
subset: gard_rare {source="GARD:0000465"}
subset: ordo_disease {source="Orphanet:33"}
synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, Orphanet:33]
synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [OMIM:243500]
synonym: "isovaleric acidemia" EXACT [MONDO:Lexical, OMIM:243500]
synonym: "isovaleric acidemia; IVA" RELATED [OMIM:243500]
synonym: "isovaleric aciduria" EXACT [DOID:14753]
synonym: "Isovalericacidemia" EXACT [NCIT:C98964]
synonym: "isovaleryl CoA carboxylase deficiency" RELATED [GARD:0000465]
synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98964]
synonym: "IVA" RELATED [MONDO:Lexical, OMIM:243500]
synonym: "IVD deficiency" RELATED [OMIM:243500]
xref: DOID:14753 {source="MONDO:equivalentTo"}
xref: GARD:0000465 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="Orphanet:33", source="ORDO:33/inclusion", source="ORDO:33/ntbt"}
xref: ICD10:E71.110 {source="MONDO:equivalentTo", source="DOID:14753"}
xref: MESH:C538167 {source="ORDO:33/e", source="Orphanet:33", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:14753"}
xref: NCIT:C98964 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14753"}
xref: OMIM:243500 {source="ORDO:33/e", source="Orphanet:33", source="MONDO:equivalentTo", source="DOID:14753"}
xref: Orphanet:33 {source="MONDO:equivalentTo", source="OMIM:243500"}
xref: SCTID:87827003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67", source="DOID:14753"}
xref: UMLS:C0268575 {source="ORDO:33/e", source="Orphanet:33", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243500", source="DOID:14753", source="NCIT:C98964"}
is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria
property_value: exactMatch DOID:14753
property_value: exactMatch http://identifiers.org/mesh/C538167
property_value: exactMatch http://identifiers.org/omim/243500
property_value: exactMatch http://identifiers.org/snomedct/87827003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268575
property_value: exactMatch NCIT:C98964
property_value: exactMatch Orphanet:33
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia xsd:anyURI {source="GARD:0000465"}

[Term]
id: MONDO:0009476
name: atresia of small intestine
def: "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases." [Orphanet:1201]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:1201"}
synonym: "apple peel small bowel syndrome" RELATED [OMIM:243600]
synonym: "apple peel syndrome" EXACT [Orphanet:1201]
synonym: "apple-peel intestinal atresia" RELATED [GARD:0006799]
synonym: "APSB" RELATED [GARD:0006799]
synonym: "atresia of the small intestine" EXACT [NCIT:C98828]
synonym: "congenital atresia of the small intestine" RELATED [GARD:0000140]
synonym: "congenital small intestine atresia" EXACT [NCIT:C98828]
synonym: "familial apple peel jejunal atresia" RELATED [GARD:0006799]
synonym: "intestinal atresia type IIIb" EXACT [Orphanet:1201]
synonym: "jejunal atresia" EXACT [Orphanet:1201]
synonym: "Jejunoileal atresia" EXACT [GARD:0000140, Orphanet:1201]
synonym: "small intestinal atresia" EXACT [Orphanet:1201]
synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828]
xref: GARD:0000140 {source="MONDO:equivalentTo"}
xref: GARD:0006799 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q41.0 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"}
xref: ICD10:Q41.1 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"}
xref: ICD10:Q41.2 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"}
xref: ICD10:Q41.8 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"}
xref: ICD10:Q41.9 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"}
xref: MedDRA:10010626 {source="ORDO:1201/e", source="Orphanet:1201"}
xref: MESH:C538260 {source="ORDO:1201/e", source="Orphanet:1201", source="MONDO:equivalentTo"}
xref: NCIT:C98828 {source="MONDO:equivalentTo"}
xref: OMIM:243600 {source="ORDO:1201/e", source="Orphanet:1201", source="MONDO:equivalentTo"}
xref: Orphanet:1201 {source="MONDO:equivalentTo", source="OMIM:243600", source="GARD:0000140"}
xref: UMLS:C0266172 {source="ORDO:1201/e", source="NCIT:C98828", source="Orphanet:1201", source="MONDO:equivalentTo", source="GARD:0000140"}
is_a: MONDO:0015211 {source="Orphanet:1201"} ! non-syndromic intestinal malformation
is_a: MONDO:0018241 {source="Orphanet:1201"} ! primary short bowel syndrome
property_value: exactMatch http://identifiers.org/meddra/10010626
property_value: exactMatch http://identifiers.org/mesh/C538260
property_value: exactMatch http://identifiers.org/omim/243600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266175
property_value: exactMatch NCIT:C98828
property_value: exactMatch Orphanet:1201

[Term]
id: MONDO:0009477
name: Stromme syndrome
def: "Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." [https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/]
subset: ordo_malformation_syndrome {source="Orphanet:444069"}
synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595]
synonym: "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" EXACT [Orphanet:506307]
synonym: "CILD31" EXACT DEPRECATED [DOID:0110595, MONDO:Lexical, OMIM:616369]
synonym: "ciliary dyskinesia, primary, 31" RELATED [MONDO:Lexical, OMIM:616369]
synonym: "ciliary dyskinesia, primary, 31, formerly" RELATED DEPRECATED [OMIM:243605]
synonym: "ciliary dyskinesia, primary, 31; CILD31" RELATED [OMIM:616369]
synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2, OMIM:616369]
synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605]
synonym: "jejunal atresia-microcephaly-ocular anomalies syndrome" EXACT [Orphanet:506307]
synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595]
synonym: "primary ciliary dyskinesia 31" EXACT DEPRECATED [DOID:0110595]
synonym: "Stromme syndrome" EXACT [OMIM:243605]
synonym: "Stromme syndrome; STROMS" RELATED [OMIM:243605]
synonym: "STROMS" RELATED [OMIM:243605]
xref: DOID:0110595 {source="MONDO:equivalentTo"}
xref: EFO:0009160 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:444069", source="ORDO:444069/attributed", source="ORDO:444069/ntbt", source="DOID:0110595"}
xref: MESH:C565460 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:444069/nd", source="DOID:0110595"}
xref: OMIM:616369 {source="Orphanet:444069", source="ORDO:444069/e", source="MONDO:equivalentTo"}
xref: Orphanet:444069 {source="MONDO:equivalentTo"}
xref: Orphanet:506307 {source="MONDO:equivalentTo"}
xref: UMLS:CN237682 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:506307"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:506307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015212 {source="Orphanet:506307"} ! syndromic intestinal malformation
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:506307"} ! syndromic developmental defect of the eye
is_a: MONDO:0016575 {source="DC-OMIM:616369"} ! primary ciliary dyskinesia
is_a: MONDO:0017120 {source="Orphanet:444069"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:444069", source="Orphanet:444069/inferred"} ! genetic nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:444069"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:444069"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855705
property_value: exactMatch DOID:0110595
property_value: exactMatch http://identifiers.org/mesh/C565460
property_value: exactMatch http://identifiers.org/omim/243605
property_value: exactMatch http://identifiers.org/omim/616369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237682
property_value: exactMatch Orphanet:444069
property_value: exactMatch Orphanet:506307

[Term]
id: MONDO:0009478
name: combined immunodeficiency due to DOCK8 deficiency
def: "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." [Orphanet:217390]
subset: gard_rare
subset: ordo_disease {source="Orphanet:217390"}
synonym: "AR hyperimmunoglobulin E syndrome" RELATED [GARD:0002816]
synonym: "AR-HIES" RELATED [GARD:0002816]
synonym: "autosomal recessive hyper IgE syndrome" RELATED [GARD:0002816]
synonym: "Cid due to DOCK8 deficiency" EXACT [Orphanet:217390]
synonym: "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" EXACT [Orphanet:217390]
synonym: "dedicator of cytokinesis 8 deficiency" EXACT [NCIT:C126343]
synonym: "DOCK8 deficiency" RELATED [GARD:0002816]
synonym: "DOCK8 immunodeficiency syndrome" EXACT [Orphanet:217390]
synonym: "HIES autosomal recessive" RELATED [GARD:0002816]
synonym: "HIES, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyper Ig E syndrome, autosomal recessive" RELATED [GARD:0002816]
synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816]
xref: GARD:0002816 {source="MONDO:equivalentTo"}
xref: ICD10:D81.1 {source="Orphanet:217390", source="ORDO:217390/attributed", source="ORDO:217390/ntbt"}
xref: NCIT:C126343 {source="MONDO:equivalentTo"}
xref: OMIM:243700 {source="ORDO:217390/e", source="Orphanet:217390", source="MONDO:equivalentTo", source="GARD:0002816"}
xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"}
xref: UMLS:C1968689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243700", source="GARD:0002816", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018037 ! hyper-IgE syndrome
is_a: MONDO:0018814 {source="Orphanet:217390"} ! non-severe combined immunodeficiency
property_value: closeMatch Orphanet:169446
property_value: exactMatch http://identifiers.org/omim/243700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968689
property_value: exactMatch NCIT:C126343
property_value: exactMatch Orphanet:217390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome xsd:anyURI {source="GARD:0002816"}

[Term]
id: MONDO:0009479
name: Johanson-Blizzard syndrome
def: "Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." [Orphanet:2315]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2315"}
synonym: "JBS" EXACT [Orphanet:2315]
synonym: "Johanson-Blizzard syndrome" EXACT [MONDO:Lexical, OMIM:243800]
synonym: "Johanson-BLIZZARD syndrome; JBS" RELATED [OMIM:243800]
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness" RELATED [GARD:0000080]
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" RELATED [OMIM:243800]
synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450]
xref: DOID:14694 {source="MONDO:equivalentTo"}
xref: EFO:0001063 {source="MONDO:equivalentTo"}
xref: GARD:0000080 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2315/attributed", source="ORDO:2315/ntbt", source="Orphanet:2315"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694", source="MONDO:ontobio"}
xref: MESH:C564907 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243800 {source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694", source="GARD:0000080", source="EFO:0001063"}
xref: OMIM:260450 {source="MONDO:equivalentTo"}
xref: Orphanet:2315 {source="MONDO:equivalentTo", source="GARD:0000080", source="OMIM:243800"}
xref: SCTID:75979009 {source="MONDO:equivalentTo", source="DOID:14694", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694", source="OMIM:243800"}
xref: UMLS:C1850081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260450"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2315", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0006025 {source="DOID:14694", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2315"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015246 {source="Orphanet:2315"} ! syndromic anorectal malformation
is_a: MONDO:0015329 {source="Orphanet:2315"} ! malformation syndrome with short stature
is_a: MONDO:0015778 {source="Orphanet:2315"} ! syndromic hypothyroidism
is_a: MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 ! syndromic genetic deafness
is_a: MONDO:0019827 {source="Orphanet:2315"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/mesh/D003638
property_value: closeMatch http://identifiers.org/snomedct/162344009
property_value: closeMatch NCIT:C27644
property_value: exactMatch DOID:14694
property_value: exactMatch http://identifiers.org/mesh/C535880
property_value: exactMatch http://identifiers.org/mesh/C564907
property_value: exactMatch http://identifiers.org/omim/243800
property_value: exactMatch http://identifiers.org/omim/260450
property_value: exactMatch http://identifiers.org/snomedct/75979009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850081
property_value: exactMatch Orphanet:2315

[Term]
id: MONDO:0009480
name: Joubert syndrome with oculorenal defect
def: "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." [Orphanet:2318]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2318"}
synonym: "Arima syndrome" EXACT [Orphanet:2318]
synonym: "cerebello-oculo-renal syndrome" RELATED [GARD:0009455]
synonym: "Cerebellooculorenal syndrome" EXACT [Orphanet:2318]
synonym: "cerebro-oculo-hepato-renal syndrome" RELATED [GARD:0009455]
synonym: "cerebrooculohepatorenal syndrome" RELATED [OMIM:243910]
synonym: "chorioretinal coloboma with cerebellar vermis aplasia" RELATED [GARD:0009455]
synonym: "coloboma, chorioretinal, with cerebellar vermis aplasia" RELATED [OMIM:243910]
synonym: "CORS" EXACT [Orphanet:2318]
synonym: "Dekaban Arima syndrome" RELATED [GARD:0009455]
synonym: "Dekaban-Arima syndrome" EXACT [Orphanet:2318]
synonym: "Joubert syndrome 5" RELATED [GARD:0009455]
synonym: "Joubert syndrome with bilateral chorioretinal coloboma" RELATED [GARD:0009455, OMIM:243910]
synonym: "Joubert syndrome with oculorenal anomalies" RELATED [GARD:0009455]
synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455]
synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318]
synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318]
synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318]
xref: GARD:0009455 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:2318/attributed", source="ORDO:2318/ntbt", source="Orphanet:2318"}
xref: MESH:C537430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:243910 {source="MONDO:equivalentTo", source="ORDO:2318/e", source="Orphanet:2318", source="GARD:0009455"}
xref: Orphanet:2318 {source="MONDO:equivalentTo", source="GARD:0009455", source="OMIM:243910"}
xref: SCTID:721862000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1855675 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455", source="OMIM:243910"}
is_a: MONDO:0015369 {source="Orphanet:2318"} ! Joubert syndrome and related disorders
is_a: MONDO:0017118 {source="MONDO:Entailed", source="Orphanet:2318", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020240 {source="Orphanet:2318"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020258 {source="Orphanet:2318"} ! oculomotor apraxia or related oculomotor disease
property_value: exactMatch http://identifiers.org/mesh/C537430
property_value: exactMatch http://identifiers.org/omim/243910
property_value: exactMatch http://identifiers.org/snomedct/721862000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855675
property_value: exactMatch Orphanet:2318
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies xsd:anyURI {source="GARD:0009455"}

[Term]
id: MONDO:0009481
name: Jumping Frenchmen of Maine
synonym: "'jumpers' of Maine" RELATED [GARD:0006803]
synonym: "exaggerated startle reflex" RELATED [GARD:0006803]
synonym: "Jumping Frenchmen of Maine" EXACT [OMIM:244100]
xref: GARD:0006803 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:244100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1280764
property_value: exactMatch http://identifiers.org/omim/244100

[Term]
id: MONDO:0009482
name: hypogonadotropic hypogonadism 3 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH3" RELATED [MONDO:Lexical, OMIM:244200]
synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [MONDO:Lexical, OMIM:244200]
synonym: "hypogonadotropic hypogonadism 3 with or without anosmia; HH3" RELATED [OMIM:244200]
synonym: "hypogonadotropic hypogonadism caused by mutation in PROKR2" EXACT [MONDO:design_pattern]
synonym: "KAL3" RELATED [GARD:0003073]
synonym: "Kallmann syndrome 3" RELATED [GARD:0003073]
synonym: "PROKR2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090092 {source="MONDO:equivalentTo"}
xref: GARD:0003073 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090092"}
xref: OMIM:244200 {source="MONDO:equivalentTo", source="DOID:0090092"}
xref: UMLS:C3550478 {source="MONDO:equivalentTo", source="OMIM:244200"}
is_a: MONDO:0018800 {source="MONDOLEX:0009482", source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930927
property_value: exactMatch DOID:0090092
property_value: exactMatch http://identifiers.org/omim/244200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550478

[Term]
id: MONDO:0009483
name: kapur-Toriello syndrome
def: "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." [Orphanet:2328]
subset: gard_rare {source="GARD:0003078"}
subset: ordo_malformation_syndrome {source="Orphanet:2328"}
synonym: "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" EXACT [Orphanet:2328]
synonym: "kapur Toriello syndrome" RELATED [GARD:0003078]
synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300]
synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078]
synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300]
xref: GARD:0003078 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2328/attributed", source="ORDO:2328/ntbt", source="Orphanet:2328"}
xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="ORDO:2328/e", source="MONDO:ontobio"}
xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="ORDO:2328/e"}
xref: Orphanet:2328 {source="MONDO:equivalentTo", source="OMIM:244300"}
xref: SCTID:722031003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C0796005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2328", source="OMIM:244300", source="ORDO:2328/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2328", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2328"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2328"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C537008
property_value: exactMatch http://identifiers.org/omim/244300
property_value: exactMatch http://identifiers.org/snomedct/722031003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796005
property_value: exactMatch Orphanet:2328
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome xsd:anyURI {source="GARD:0003078"}

[Term]
id: MONDO:0009484
name: primary ciliary dyskinesia 1
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD1" EXACT [DOID:0110594, MONDO:Lexical, OMIM:244400]
synonym: "ciliary dyskinesia, primary, 1" RELATED [MONDO:Lexical, OMIM:244400]
synonym: "ciliary dyskinesia, primary, 1, with or without situs inversus" RELATED [OMIM:244400]
synonym: "ciliary dyskinesia, primary, 1; CILD1" RELATED [OMIM:244400]
synonym: "ciliary dyskinesia, primary, type 1" EXACT [MONDORULE:1, OMIM:244400]
synonym: "dextrocardia, bronchiectasis, and sinusitis" RELATED [OMIM:244400]
synonym: "DNAI1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "immotile cilia syndrome" RELATED [OMIM:244400]
synonym: "Kartagener syndrome" RELATED [OMIM:244400]
synonym: "PCD" RELATED [OMIM:244400]
synonym: "Polynesian bronchiectasis" RELATED [OMIM:244400]
synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [DOID:0110594]
synonym: "primary ciliary dyskinesia caused by mutation in DNAI1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 1" EXACT [DOID:0110594, MONDORULE:1]
synonym: "Siewert syndrome" RELATED [OMIM:244400]
xref: DOID:0110594 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110594"}
xref: OMIM:244400 {source="MONDO:equivalentTo", source="DOID:0110594"}
xref: Orphanet:98861 {source="MONDO:obsoleteEquivalent", source="OMIM:244400"}
is_a: MONDO:0016575 {source="DC-OMIM:244400", source="DOID:0110594", source="MONDO:Redundant", source="MONDOLEX:0009484", source="OMIM:244400"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022521
property_value: exactMatch DOID:0110594
property_value: exactMatch http://identifiers.org/omim/244400
property_value: exactMatch Orphanet:98861

[Term]
id: MONDO:0009485
name: oculocerebrofacial syndrome, Kaufman type
subset: ordo_malformation_syndrome {source="Orphanet:2707"}
synonym: "blepharophimosis-ptosis-intellectual disability syndrome" RELATED [OMIM:244450]
synonym: "blepharophimosis-ptosis-intellectual disability syndrome; BPIDS" EXACT [OMIM:244450]
synonym: "Kaufman oculocerebrofacial syndrome" RELATED [MONDO:Lexical, OMIM:244450]
synonym: "Kaufman oculocerebrofacial syndrome; kos" RELATED [OMIM:244450]
synonym: "KOS" RELATED [MONDO:Lexical, OMIM:244450]
synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED [GARD:0003084]
xref: GARD:0003084 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2707/attributed", source="ORDO:2707/ntbt", source="Orphanet:2707"}
xref: MESH:C537013 {source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"}
xref: OMIM:244450 {source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"}
xref: Orphanet:2707 {source="OMIM:244450", source="MONDO:equivalentTo"}
xref: SCTID:722056009 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1855663 {source="NCBI:mim2gene_medline", source="OMIM:244450", source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2707", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2707"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:2707"} ! syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C537013
property_value: exactMatch http://identifiers.org/omim/244450
property_value: exactMatch http://identifiers.org/snomedct/722056009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855663
property_value: exactMatch Orphanet:2707

[Term]
id: MONDO:0009486
name: autosomal recessive Kenny-Caffey syndrome
def: "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." [NCIT:C130992]
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:93324"}
synonym: "Kcs" RELATED [OMIM:244460]
synonym: "KCS1" RELATED [GARD:0008367, MONDO:Lexical, OMIM:244460]
synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992]
synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460]
synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460]
synonym: "Kenny-Caffey syndrome, type 1; KCS1" RELATED [OMIM:244460]
xref: GARD:0008367 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:93324/attributed", source="ORDO:93324/ntbt", source="Orphanet:93324"}
xref: MESH:C537021 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C130992 {source="MONDO:equivalentTo"}
xref: OMIM:244460 {source="ORDO:93324/e", source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367"}
xref: Orphanet:93324 {source="OMIM:244460", source="MONDO:equivalentTo", source="GARD:0008367"}
xref: UMLS:C1855648 {source="OMIM:244460", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367", source="NCIT:C130992"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016516 {source="DC-OMIM:244460", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome
property_value: exactMatch http://identifiers.org/mesh/C537021
property_value: exactMatch http://identifiers.org/omim/244460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855648
property_value: exactMatch NCIT:C130992
property_value: exactMatch Orphanet:93324
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 xsd:anyURI {source="GARD:0008367"}

[Term]
id: MONDO:0009487
name: keratoconus and congenital hip dysplasia
synonym: "keratoconus and congenital hip dysplasia" EXACT [OMIM:244510]
xref: MESH:C565456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:244510 {source="MONDO:equivalentTo"}
xref: UMLS:C1855647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:244510"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565456
property_value: exactMatch http://identifiers.org/omim/244510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855647

[Term]
id: MONDO:0009488
name: keratoconus posticus circumscriptus
subset: gard_rare {source="GARD:0003091"}
synonym: "keratoconus posticus circumscriptus" EXACT [MONDO:Lexical, OMIM:244600]
synonym: "keratoconus posticus CIRCUMSCRIPTUS; KPC" RELATED [OMIM:244600]
synonym: "KPC" RELATED [MONDO:Lexical, OMIM:244600]
synonym: "Kpc with associated malformations" RELATED [OMIM:244600]
xref: GARD:0003091 {source="MONDO:equivalentTo"}
xref: OMIM:244600 {source="MONDO:equivalentTo"}
xref: UMLS:C1855645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:244600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855646
property_value: exactMatch http://identifiers.org/omim/244600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855645
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus xsd:anyURI {source="GARD:0003091"}

[Term]
id: MONDO:0009489
name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type
def: "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive." [Orphanet:86923]
subset: ordo_disease {source="Orphanet:86923"}
synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [Orphanet:86923]
synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850]
synonym: "palmoplantar keratoderma, Norrbotten recessive type; PPKNR" RELATED [OMIM:244850]
synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923]
synonym: "PPKNR" RELATED [MONDO:Lexical, OMIM:244850]
xref: ICD10:Q82.8 {source="ORDO:86923/attributed", source="ORDO:86923/ntbt", source="Orphanet:86923"}
xref: MESH:C565454 {source="MONDO:equivalentTo"}
xref: OMIM:244850 {source="ORDO:86923/e", source="MONDO:equivalentTo", source="Orphanet:86923"}
xref: Orphanet:86923 {source="MONDO:equivalentTo", source="OMIM:244850"}
xref: SCTID:717228004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.85"}
is_a: MONDO:0020096 {source="Orphanet:86923"} ! autosomal recessive isolated diffuse palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855644
property_value: exactMatch http://identifiers.org/mesh/C565454
property_value: exactMatch http://identifiers.org/omim/244850
property_value: exactMatch http://identifiers.org/snomedct/717228004
property_value: exactMatch Orphanet:86923

[Term]
id: MONDO:0009490
name: Papillon-Lefevre disease
def: "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." [Orphanet:678]
subset: ordo_disease {source="Orphanet:678"}
synonym: "hyperkeratosis palmoplantaris with periodontosis" RELATED [GARD:0003100]
synonym: "Keratoris palmoplantaris with periodontopathia" RELATED [GARD:0003100]
synonym: "keratosis palmoplantar - periodontopathy" RELATED [GARD:0003100]
synonym: "keratosis palmoplantar-periodontopathy syndrome" EXACT [Orphanet:678]
synonym: "keratosis palmoplantaris with periodontopathia" RELATED [OMIM:245000]
synonym: "palmar-plantar hyperkeratosis and concomitant periodontal destruction" RELATED [GARD:0003100]
synonym: "palmoplantar keratoderma with periodontosis" RELATED [GARD:0003100]
synonym: "PALS" RELATED [MONDO:Lexical, OMIM:245000]
synonym: "Papillon Lefevre syndrome" EXACT [CSP2005:0828-4592, CSP2005:2716-7025, DOID:3389]
synonym: "PAPILLON-Lefevre syndrome" RELATED [MONDO:Lexical, OMIM:245000]
synonym: "PAPILLON-Lefevre syndrome; PALS" RELATED [OMIM:245000]
synonym: "Papillon-Lefvre syndrome" EXACT [DOID:3389]
synonym: "Papillon-LEFèvre syndrome" RELATED [Orphanet:678]
synonym: "PLS" EXACT [Orphanet:678]
synonym: "Pls" RELATED [OMIM:245000]
xref: DOID:3389 {source="MONDO:equivalentTo"}
xref: GARD:0003100 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:678", source="ORDO:678/attributed", source="ORDO:678/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010214 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84992 {source="MONDO:kboom-pr-1.00/0.91/25.89", source="DOID:3389", source="MONDO:equivalentTo"}
xref: OMIM:245000 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo"}
xref: Orphanet:678 {source="OMIM:245000", source="MONDO:equivalentTo"}
xref: SCTID:40158001 {source="DOID:3389", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C0030360 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="NCBI:mim2gene_medline", source="OMIM:245000", source="MONDO:equivalentTo", source="NCIT:C84992"}
is_a: MONDO:0002635 {source="DOID:3389"} ! periodontal disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015336 {source="Orphanet:678"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015978 {source="Orphanet:678"} ! functional neutrophil defect
is_a: MONDO:0017671 {source="Orphanet:678"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0017739 {source="Orphanet:678"} ! disorder of lysosomal-related organelles
is_a: MONDO:0019183 ! inherited odontologic disease
is_a: MONDO:0019287 {source="Orphanet:678"} ! ectodermal dysplasia syndrome
property_value: exactMatch DOID:3389
property_value: exactMatch http://identifiers.org/mesh/D010214
property_value: exactMatch http://identifiers.org/omim/245000
property_value: exactMatch http://identifiers.org/snomedct/40158001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030360
property_value: exactMatch NCIT:C84992
property_value: exactMatch Orphanet:678

[Term]
id: MONDO:0009491
name: Haim-Munk syndrome
def: "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." [Orphanet:2342]
subset: gard_rare {source="GARD:0000044"}
subset: ordo_disease {source="Orphanet:2342"}
synonym: "Cochin Jewish disorder" RELATED [OMIM:245010]
synonym: "Haim-Munk syndrome" EXACT [MONDO:Lexical, OMIM:245010]
synonym: "HAIM-Munk syndrome; HMS" RELATED [OMIM:245010]
synonym: "HMS" RELATED [MONDO:Lexical, OMIM:245010]
synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" RELATED [OMIM:245010]
synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
xref: GARD:0000044 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2342", source="ORDO:2342/attributed", source="ORDO:2342/ntbt"}
xref: MESH:C537627 {source="Orphanet:2342", source="ORDO:2342/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245010 {source="Orphanet:2342", source="ORDO:2342/e", source="MONDO:equivalentTo"}
xref: Orphanet:2342 {source="OMIM:245010", source="MONDO:equivalentTo"}
xref: SCTID:719973009 {source="MONDO:kboom-pr-0.77/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C1855627 {source="Orphanet:2342", source="ORDO:2342/e", source="OMIM:245010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015336 {source="Orphanet:2342"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017671 {source="Orphanet:2342"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0017739 {source="Orphanet:2342"} ! disorder of lysosomal-related organelles
property_value: exactMatch http://identifiers.org/mesh/C537627
property_value: exactMatch http://identifiers.org/omim/245010
property_value: exactMatch http://identifiers.org/snomedct/719973009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855627
property_value: exactMatch Orphanet:2342
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome xsd:anyURI {source="GARD:0000044"}

[Term]
id: MONDO:0009492
name: succinyl-CoA:3-ketoacid CoA transferase deficiency
def: "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." [Orphanet:832]
subset: ordo_disease {source="Orphanet:832"}
synonym: "3-oxoacid CoA transferase deficiency" RELATED [GARD:0004774]
synonym: "ketoacidosis due to Scot deficiency" RELATED [OMIM:245050]
synonym: "OXCT1 deficiency" EXACT [Orphanet:832]
synonym: "SCOT deficiency" EXACT [Orphanet:832]
synonym: "Scot deficiency" RELATED [OMIM:245050]
synonym: "SCOTD" RELATED [MONDO:Lexical, OMIM:245050]
synonym: "succinyl-CoA acetoacetate transferase deficiency" EXACT [Orphanet:832]
synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [OMIM:245050]
synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832]
synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050]
synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency; SCOTD" RELATED [OMIM:245050]
synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050]
xref: GARD:0004774 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="Orphanet:832", source="ORDO:832/attributed", source="ORDO:832/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537527 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245050 {source="ORDO:832/e", source="Orphanet:832", source="MONDO:equivalentTo"}
xref: Orphanet:832 {source="MONDO:equivalentTo", source="OMIM:245050"}
xref: SCTID:238004006 {source="MONDO:kboom-pr-0.77/0.38/0.80", source="MONDO:equivalentTo"}
is_a: MONDO:0019229 {source="Orphanet:832"} ! inborn disorder of ketolysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342792
property_value: exactMatch http://identifiers.org/mesh/C537527
property_value: exactMatch http://identifiers.org/omim/245050
property_value: exactMatch http://identifiers.org/snomedct/238004006
property_value: exactMatch Orphanet:832

[Term]
id: MONDO:0009493
name: Richards-Rundle syndrome
def: "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." [Orphanet:1399]
subset: ordo_malformation_syndrome {source="Orphanet:1399"}
synonym: "ataxia-deafness-mental retardation syndrome" RELATED [OMIM:245100]
synonym: "ataxia-deafness-retardation syndrome with ketoaciduria" RELATED [GARD:0008423]
synonym: "familial ataxia-hypogonadism syndrome" RELATED [GARD:0008423]
synonym: "ketoaciduria - intellectual disability - ataxia - deafness" RELATED [GARD:0008423]
synonym: "ketoaciduria-intellectual disability-ataxia-deafness syndrome" EXACT [Orphanet:1399]
synonym: "ketoaciduria-mental deficiency syndrome" RELATED [GARD:0008423]
synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100]
synonym: "RICHARDS-RUNDLE syndrome; RRNS" RELATED [OMIM:245100]
synonym: "RRNS" RELATED [MONDO:Lexical, OMIM:245100]
xref: GARD:0008423 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.2 {source="Orphanet:1399", source="ORDO:1399/attributed", source="ORDO:1399/ntbt"}
xref: MESH:C535674 {source="ORDO:1399/e", source="Orphanet:1399", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245100 {source="ORDO:1399/e", source="Orphanet:1399", source="MONDO:equivalentTo"}
xref: Orphanet:1399 {source="OMIM:245100", source="MONDO:equivalentTo"}
xref: SCTID:715415005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0796136 {source="ORDO:1399/e", source="OMIM:245100", source="NCBI:mim2gene_medline", source="Orphanet:1399", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:1399"} ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:1399"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535674
property_value: exactMatch http://identifiers.org/omim/245100
property_value: exactMatch http://identifiers.org/snomedct/715415005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796136
property_value: exactMatch Orphanet:1399

[Term]
id: MONDO:0009494
name: Ketoadipicaciduria
synonym: "Ketoadipicaciduria" EXACT [OMIM:245130]
xref: MESH:C565453 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245130 {source="MONDO:equivalentTo"}
xref: UMLS:C1855626 {source="OMIM:245130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565453/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565453
property_value: exactMatch http://identifiers.org/omim/245130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855626

[Term]
id: MONDO:0009495
name: Keutel syndrome
def: "Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." [Orphanet:85202]
subset: gard_rare {source="GARD:0008449"}
subset: ordo_malformation_syndrome {source="Orphanet:85202"}
synonym: "Keutel syndrome" EXACT [MONDO:Lexical, OMIM:245150]
synonym: "KEUTEL syndrome; KTLS" RELATED [OMIM:245150]
synonym: "KTLS" RELATED [MONDO:Lexical, OMIM:245150]
synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages" RELATED [GARD:0008449]
synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150]
synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202]
xref: GARD:0008449 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85202", source="ORDO:85202/attributed", source="ORDO:85202/ntbt"}
xref: MESH:C536167 {source="ORDO:85202/e", source="Orphanet:85202", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245150 {source="ORDO:85202/e", source="Orphanet:85202", source="MONDO:equivalentTo"}
xref: Orphanet:85202 {source="OMIM:245150", source="MONDO:equivalentTo"}
xref: SCTID:724208006 {source="MONDO:equivalentTo"}
xref: UMLS:C1855607 {source="OMIM:245150", source="ORDO:85202/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:85202", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85202", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85202"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019066 {source="Orphanet:85202"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019701 {source="Orphanet:85202"} ! chondrodysplasia punctata
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536167
property_value: exactMatch http://identifiers.org/omim/245150
property_value: exactMatch http://identifiers.org/snomedct/724208006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855607
property_value: exactMatch Orphanet:85202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome xsd:anyURI {source="GARD:0008449"}

[Term]
id: MONDO:0009496
name: Kniest-like dysplasia with pursed lips and ectopia lentis
synonym: "burton syndrome" RELATED [OMIM:245160]
synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [OMIM:245160]
xref: GARD:0010512 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:245160 {source="MONDO:equivalentTo"}
xref: UMLS:C1855606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245160"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/245160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855606

[Term]
id: MONDO:0009497
name: Kifafa seizure disorder
subset: gard_rare {source="GARD:0008420"}
synonym: "Complex familial seizure disorder" RELATED [GARD:0008420]
synonym: "Kifafa seizure disorder" EXACT [OMIM:245180]
synonym: "parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes" RELATED [GARD:0008420]
synonym: "Vitsala" RELATED [GARD:0008420]
xref: GARD:0008420 {source="MONDO:equivalentTo"}
xref: MESH:C537708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245180 {source="MONDO:equivalentTo"}
xref: UMLS:C0796010 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245180"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537708
property_value: exactMatch http://identifiers.org/omim/245180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder xsd:anyURI {source="GARD:0008420"}

[Term]
id: MONDO:0009498
name: lethal Kniest-like dysplasia
def: "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." [Orphanet:2347]
subset: gard_rare {source="GARD:0003124"}
subset: ordo_malformation_syndrome {source="Orphanet:2347"}
synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED [GARD:0003124]
synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124]
synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190]
xref: GARD:0003124 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:2347/attributed", source="ORDO:2347/ntbt", source="Orphanet:2347"}
xref: MESH:C537208 {source="ORDO:2347/e", source="MONDO:equivalentTo", source="Orphanet:2347", source="MONDO:ontobio"}
xref: OMIM:245190 {source="ORDO:2347/e", source="MONDO:equivalentTo", source="Orphanet:2347"}
xref: Orphanet:2347 {source="MONDO:equivalentTo", source="OMIM:245190"}
xref: UMLS:C1855605 {source="ORDO:2347/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2347", source="OMIM:245190"}
is_a: MONDO:0019718 {source="Orphanet:2347"} ! lethal chondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C537208
property_value: exactMatch http://identifiers.org/omim/245190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855605
property_value: exactMatch Orphanet:2347
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal xsd:anyURI {source="GARD:0003124"}

[Term]
id: MONDO:0009499
name: Krabbe disease
def: "Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." [Orphanet:487]
comment: Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137]
subset: ordo_disease {source="Orphanet:487"}
synonym: "beta galactocerebrosidase deficiency" EXACT [CSP2005:1849-5536, DOID:10587]
synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587]
synonym: "galactocerebrosidase deficiency" EXACT [Orphanet:487]
synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487]
synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200]
synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254]
synonym: "GALC deficiency" EXACT [Orphanet:487]
synonym: "GLD" RELATED [GARD:0006844]
synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137]
synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200]
synonym: "Krabbe disease" EXACT [OMIM:245200]
synonym: "Krabbe leukodystrophy" RELATED [GARD:0006844]
synonym: "Krabbe's disease" EXACT [DOID:10587, MTHICD9_2006:330.0]
synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587]
xref: DOID:10587 {source="MONDO:equivalentTo"}
xref: GARD:0006844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:487/inclusion", source="ORDO:487/ntbt", source="Orphanet:487"}
xref: ICD10:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: MedDRA:10023492 {source="ORDO:487/e", source="Orphanet:487"}
xref: MESH:D007965 {source="DOID:10587", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C61254 {source="DOID:10587", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:245200 {source="DOID:10587", source="MONDO:equivalentTo", source="ORDO:487/e", source="Orphanet:487"}
xref: Orphanet:487 {source="MONDO:equivalentTo", source="OMIM:245200"}
xref: SCTID:189979005 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: UMLS:C0023521 {source="DOID:10587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245200", source="NCIT:C61254", source="ORDO:487/e", source="Orphanet:487"}
is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease
is_a: MONDO:0016133 {source="Orphanet:487"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0018299 {source="Orphanet:487"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019046 {source="NCIT:C61254", source="Orphanet:487", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:487"} ! neurometabolic disease
is_a: MONDO:0020244 {source="Orphanet:487"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/192782005
property_value: closeMatch http://identifiers.org/snomedct/5710006
property_value: exactMatch DOID:10587
property_value: exactMatch http://identifiers.org/meddra/10023492
property_value: exactMatch http://identifiers.org/mesh/D007965
property_value: exactMatch http://identifiers.org/omim/245200
property_value: exactMatch http://identifiers.org/snomedct/189979005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023521
property_value: exactMatch NCIT:C61254
property_value: exactMatch Orphanet:487

[Term]
id: MONDO:0009500
name: kuru, susceptibility to
subset: predisposition
synonym: "kuru, susceptibility to" EXACT [OMIM:245300]
synonym: "susceptibility to kuru" RELATED [OMIM:245300]
xref: OMIM:245300 {source="MONDO:equivalentTo"}
xref: UMLS:C1855588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245300"}
is_a: MONDO:0006825 {source="ORDO:454745/btnt"} ! kuru
property_value: exactMatch http://identifiers.org/omim/245300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855588

[Term]
id: MONDO:0009501
name: metabolic myopathy due to lactate transporter defect
def: "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." [Orphanet:171690]
subset: ordo_disease {source="Orphanet:171690"}
synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690]
synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340]
xref: ICD10:G72.8 {source="Orphanet:171690", source="ORDO:171690/attributed", source="ORDO:171690/ntbt"}
xref: MESH:C565449 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245340 {source="ORDO:171690/e", source="Orphanet:171690", source="MONDO:equivalentTo"}
xref: Orphanet:171690 {source="OMIM:245340", source="MONDO:equivalentTo"}
xref: SCTID:766715000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855577 {source="MEDGEN:kboom-pr98-c99", source="OMIM:245340", source="NCBI:mim2gene_medline", source="Orphanet:171690", source="MONDO:equivalentTo"}
is_a: MONDO:0020123 {source="Orphanet:171690"} ! metabolic myopathy
property_value: exactMatch http://identifiers.org/mesh/C565449
property_value: exactMatch http://identifiers.org/omim/245340
property_value: exactMatch http://identifiers.org/snomedct/766715000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855577
property_value: exactMatch Orphanet:171690

[Term]
id: MONDO:0009502
name: pyruvate dehydrogenase E2 deficiency
def: "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." [Orphanet:79244]
subset: ordo_clinical_subtype {source="Orphanet:79244"}
synonym: "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244]
synonym: "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244]
synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex" RELATED [OMIM:245348]
synonym: "PDHDD" RELATED [MONDO:Lexical, OMIM:245348]
synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244]
synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348]
synonym: "pyruvate dehydrogenase E2 deficiency; PDHDD" RELATED [OMIM:245348]
xref: ICD10:E74.4 {source="ORDO:79244/attributed", source="ORDO:79244/ntbt", source="Orphanet:79244"}
xref: MESH:C565448 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245348 {source="MONDO:equivalentTo", source="ORDO:79244/e", source="Orphanet:79244"}
xref: Orphanet:79244 {source="MONDO:equivalentTo", source="OMIM:245348"}
xref: UMLS:C1855565 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245348", source="MEDGEN:kboom-pr92-c96", source="Orphanet:79244"}
is_a: MONDO:0019169 {source="DC-OMIM:245348", source="OMIM:245348", source="Orphanet:79244"} ! pyruvate dehydrogenase deficiency
property_value: exactMatch http://identifiers.org/mesh/C565448
property_value: exactMatch http://identifiers.org/omim/245348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855565
property_value: exactMatch Orphanet:79244

[Term]
id: MONDO:0009503
name: pyruvate dehydrogenase E3-binding protein deficiency
def: "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." [Orphanet:255182]
subset: ordo_clinical_subtype {source="Orphanet:255182"}
synonym: "2-oxoglutarate complex deficiency" EXACT [Orphanet:255182]
synonym: "branched chain alpha-ketoacid dehydrogenase complex deficiency" EXACT [Orphanet:255182]
synonym: "diaphorase deficiency" EXACT [Orphanet:255182]
synonym: "dihydrolipoyl dehydrogenase deficiency" EXACT [Orphanet:255182]
synonym: "Glycine cleavage system L protein deficiency" EXACT [Orphanet:255182]
synonym: "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex" RELATED [OMIM:245349]
synonym: "lipoamide dehydrogenase deficiency" EXACT [Orphanet:255182]
synonym: "PDHXD" RELATED [MONDO:Lexical, OMIM:245349]
synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphanet:255182]
synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT [MONDO:Lexical, OMIM:245349]
synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency; PDHXD" RELATED [OMIM:245349]
synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182]
xref: ICD10:E74.4 {source="ORDO:255182/attributed", source="ORDO:255182/ntbt", source="Orphanet:255182"}
xref: OMIM:245349 {source="MONDO:equivalentTo", source="Orphanet:255182", source="ORDO:255182/e"}
xref: Orphanet:255182 {source="MONDO:equivalentTo", source="OMIM:245349"}
xref: UMLS:C1855553 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:255182", source="OMIM:245349", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019169 {source="DC-OMIM:245349", source="OMIM:245349", source="Orphanet:255182"} ! pyruvate dehydrogenase deficiency
property_value: exactMatch http://identifiers.org/omim/245349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855553
property_value: exactMatch Orphanet:255182

[Term]
id: MONDO:0009504
name: mitochondrial DNA depletion syndrome 9
def: "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." [Orphanet:17]
subset: gard_rare
subset: ordo_disease {source="Orphanet:17"}
synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [Orphanet:17]
synonym: "lactic acidosis congenital infantile" RELATED [GARD:0003163]
synonym: "lactic acidosis, fatal infantile" RELATED [OMIM:245400]
synonym: "lactic acidosis, fatal infantile, formerly" RELATED [OMIM:245400]
synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:245400]
synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); MTDPS9" RELATED [OMIM:245400]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [DOID:0080128, MONDORULE:1]
synonym: "MTDPS9" RELATED [MONDO:Lexical, OMIM:245400]
synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-6330-7526, PMID:26475597, PMID:31240156]
synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080128 {source="MONDO:equivalentTo"}
xref: GARD:0003163 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:17/attributed", source="ORDO:17/ntbt", source="Orphanet:17"}
xref: MESH:C538134 {source="MONDO:equivalentTo"}
xref: MESH:C566885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245400 {source="MONDO:equivalentTo", source="ORDO:17/e", source="Orphanet:17", source="DOID:0080128", source="GARD:0003163"}
xref: Orphanet:17 {source="MONDO:equivalentTo", source="OMIM:245400"}
xref: SCTID:715338007 {source="MONDO:equivalentTo"}
is_a: MONDO:0006040 {source="MESH:C538134", source="MESH:C566885", source="OMIM:245400"} ! lactic acidosis
is_a: MONDO:0016796 {source="Orphanet:17"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931744
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151476
property_value: exactMatch DOID:0080128
property_value: exactMatch http://identifiers.org/mesh/C538134
property_value: exactMatch http://identifiers.org/mesh/C566885
property_value: exactMatch http://identifiers.org/omim/245400
property_value: exactMatch http://identifiers.org/snomedct/715338007
property_value: exactMatch Orphanet:17
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile xsd:anyURI {source="GARD:0003163"}

[Term]
id: MONDO:0009505
name: lactic aciduria due to D-lactic acid
synonym: "lactic aciduria due to d-lactic acid" EXACT [OMIM:245450]
xref: MESH:C565446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855552 {source="OMIM:245450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565446/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565446
property_value: exactMatch http://identifiers.org/omim/245450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855552

[Term]
id: MONDO:0009506
name: specific granule deficiency
subset: ordo_disease {source="Orphanet:169142"}
synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480]
synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480]
synonym: "neutrophil-specific granule deficiency" EXACT [Orphanet:169142]
synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphanet:169142]
synonym: "SGD" RELATED [MONDO:Lexical, OMIM:245480]
synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480]
synonym: "specific granule deficiency; SGD" RELATED [OMIM:245480]
xref: GARD:0010778 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D71 {source="Orphanet:169142", source="ORDO:169142/attributed", source="ORDO:169142/ntbt"}
xref: MESH:C562873 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:245480 {source="MONDO:equivalentTo"}
xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:equivalentTo"}
xref: SCTID:234587000 {source="MONDO:kboom-pr-0.72/0.42/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0398593 {source="OMIM:245480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015978 {source="Orphanet:169142"} ! functional neutrophil defect
is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment
property_value: exactMatch http://identifiers.org/mesh/C562873
property_value: exactMatch http://identifiers.org/snomedct/234587000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398593
property_value: exactMatch Orphanet:169142

[Term]
id: MONDO:0009507
name: Lambert syndrome
def: "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." [Orphanet:1296]
subset: gard_rare {source="GARD:0003169"}
subset: ordo_malformation_syndrome {source="Orphanet:1296"}
synonym: "branchial dysplasia clubfoot inguinal hernia and biliary atresia" RELATED [GARD:0003169]
synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [OMIM:245550]
synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296]
synonym: "Lambert syndrome" EXACT [OMIM:245550]
xref: GARD:0003169 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1296", source="ORDO:1296/attributed", source="ORDO:1296/ntbt"}
xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1296/e"}
xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="ORDO:1296/e"}
xref: Orphanet:1296 {source="OMIM:245550", source="MONDO:equivalentTo"}
xref: SCTID:732961003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855551 {source="Orphanet:1296", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:245550", source="MONDO:equivalentTo", source="ORDO:1296/e"}
is_a: MONDO:0015159 {source="Orphanet:1296"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:1296"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015495 {source="Orphanet:1296"} ! otomandibular dysplasia associated with monogenic syndromes
property_value: exactMatch http://identifiers.org/mesh/C538396
property_value: exactMatch http://identifiers.org/omim/245550
property_value: exactMatch http://identifiers.org/snomedct/732961003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855551
property_value: exactMatch Orphanet:1296
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome xsd:anyURI {source="GARD:0003169"}

[Term]
id: MONDO:0009508
name: Lambotte syndrome
synonym: "Lambotte syndrome" EXACT [OMIM:245552]
synonym: "microcephaly, holoprosencephaly, and intrauterine Growth retardation" RELATED [OMIM:245552]
xref: GARD:0008470 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537549 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245552 {source="MONDO:equivalentTo"}
xref: UMLS:C1855550 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245552"}
is_a: MONDO:0003847 {source="MESH:C537549/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537549
property_value: exactMatch http://identifiers.org/omim/245552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855550

[Term]
id: MONDO:0009509
name: Landau-Kleffner syndrome
def: "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures ( epilepsy ). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A , but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." [https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome]
subset: gard_rare {source="GARD:0006855"}
subset: ordo_disease {source="Orphanet:98818"}
synonym: "acquired aphasia with convulsive disorder" RELATED [GARD:0006855]
synonym: "acquired epileptic aphasia" EXACT [DOID:2538, Orphanet:98818]
synonym: "acquired epileptiform aphasia" RELATED [GARD:0006855]
synonym: "aphasia, acquired, with epilepsy" RELATED [OMIM:245570]
synonym: "benign epilepsy of childhood with centrotemporal spikes" RELATED [OMIM:245570]
synonym: "continuous Spike and waves during slow-Wave sleep syndrome" RELATED [OMIM:245570]
synonym: "epilepsy, focal, with speech disorder and with or without mental retardation" RELATED [MONDO:Lexical, OMIM:245570]
synonym: "epilepsy, focal, with speech disorder and with or without mental retardation; FESD" RELATED [OMIM:245570]
synonym: "FESD" RELATED [MONDO:Lexical, OMIM:245570]
synonym: "Landau-Kleffner syndrome" EXACT [OMIM:245570]
synonym: "LKS" EXACT [Orphanet:98818]
synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED [OMIM:245570]
xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"}
xref: EFO:1001010 {source="MONDO:equivalentTo"}
xref: GARD:0006855 {source="MONDO:equivalentTo"}
xref: ICD10:G40.8 {source="DOID:2538"}
xref: MedDRA:10052075 {source="ORDO:98818/e", source="Orphanet:98818"}
xref: MedDRA:10052083 {source="EFO:1001010"}
xref: MESH:D018887 {source="EFO:1001010", source="MONDO:equivalentTo", source="ORDO:98818/e", source="DOID:2538", source="Orphanet:98818"}
xref: NCIT:C84806 {source="EFO:1001010", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.20", source="DOID:2538"}
xref: OMIM:245570 {source="ORDO:98818/ntbt", source="MONDO:equivalentTo", source="DOID:2538", source="Orphanet:98818"}
xref: Orphanet:98818 {source="OMIM:245570", source="MONDO:equivalentTo"}
xref: SCTID:230438007 {source="MONDO:kboom-pr-1.00/0.91/27.12", source="MONDO:equivalentTo", source="DOID:2538"}
xref: UMLS:C0282512 {source="OMIM:245570", source="MONDO:equivalentTo", source="ORDO:98818/e", source="NCIT:C84806", source="DOID:2538", source="Orphanet:98818"}
is_a: MONDO:0000414 {source="DOID:2538"} ! childhood electroclinical syndrome
is_a: MONDO:0002254 {source="MONDOLEX:0009509", source="NCIT:C84806"} ! syndromic disease
is_a: MONDO:0020072 {source="Orphanet:98818", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: closeMatch http://identifiers.org/meddra/10052083
property_value: closeMatch http://identifiers.org/snomedct/192567003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832814
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806402
property_value: exactMatch DOID:2538
property_value: exactMatch http://identifiers.org/meddra/10052075
property_value: exactMatch http://identifiers.org/mesh/D018887
property_value: exactMatch http://identifiers.org/omim/245570
property_value: exactMatch http://identifiers.org/snomedct/230438007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282512
property_value: exactMatch NCIT:C84806
property_value: exactMatch Orphanet:98818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome xsd:anyURI {source="GARD:0006855"}

[Term]
id: MONDO:0009510
name: Laron syndrome with immunodeficiency
def: "This syndrome is characterized by severe growth retardation associated with immunodeficiency." [Orphanet:220465]
subset: ordo_disease {source="Orphanet:220465"}
synonym: "Growth hormone insensitivity due to postreceptor defect" RELATED [OMIM:245590]
synonym: "growth hormone insensitivity with immunodeficiency" RELATED [OMIM:245590]
synonym: "Laron syndrome due to postreceptor defect" RELATED [OMIM:245590]
synonym: "Laron-like syndrome" EXACT [Orphanet:220465]
synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465]
xref: ICD10:D82.8 {source="Orphanet:220465", source="ORDO:220465/attributed", source="ORDO:220465/ntbt"}
xref: ICD10:E34.3 {source="Orphanet:220465", source="ORDO:220465/attributed", source="ORDO:220465/ntbt"}
xref: MESH:C537871 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245590 {source="Orphanet:220465", source="ORDO:220465/e", source="MONDO:equivalentTo"}
xref: Orphanet:220465 {source="OMIM:245590", source="MONDO:equivalentTo"}
xref: SCTID:724179008 {source="MONDO:equivalentTo"}
xref: UMLS:C1855548 {source="OMIM:245590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4510411 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0015892 {source="Orphanet:220465"} ! growth hormone insensitivity syndrome
is_a: MONDO:0018035 {source="Orphanet:220465"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C537871
property_value: exactMatch http://identifiers.org/omim/245590
property_value: exactMatch http://identifiers.org/snomedct/724179008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855548
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510411
property_value: exactMatch Orphanet:220465

[Term]
id: MONDO:0009511
name: Larsen-like syndrome, B3GAT3 type
def: "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." [Orphanet:284139]
subset: ordo_malformation_syndrome {source="Orphanet:284139"}
synonym: "JDSCD" RELATED [OMIM:245600]
synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600]
synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [OMIM:245600]
synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [OMIM:245600]
synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects; JDSCD" RELATED [OMIM:245600]
synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [OMIM:245600]
synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139]
xref: ICD10:Q74.8 {source="ORDO:284139/attributed", source="ORDO:284139/ntbt", source="Orphanet:284139"}
xref: MESH:C537874 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245600 {source="MONDO:equivalentTo", source="Orphanet:284139", source="ORDO:284139/e"}
xref: Orphanet:284139 {source="MONDO:equivalentTo", source="OMIM:245600"}
is_a: MONDO:0015332 {source="Orphanet:284139"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0017742 {source="Orphanet:284139"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018290 {source="Orphanet:284139"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0018292 {source="Orphanet:284139"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:284139"} ! primary bone dysplasia with multiple joint dislocations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855536
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278404
property_value: exactMatch http://identifiers.org/mesh/C537874
property_value: exactMatch http://identifiers.org/omim/245600
property_value: exactMatch Orphanet:284139

[Term]
id: MONDO:0009512
name: lethal Larsen-like syndrome
def: "Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." [Orphanet:2371]
subset: ordo_malformation_syndrome {source="Orphanet:2371"}
synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181]
synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650]
xref: GARD:0003181 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q74.8 {source="Orphanet:2371", source="ORDO:2371/attributed", source="ORDO:2371/ntbt"}
xref: MESH:C537872 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2371", source="ORDO:2371/e"}
xref: OMIM:245650 {source="MONDO:equivalentTo", source="Orphanet:2371", source="ORDO:2371/e"}
xref: Orphanet:2371 {source="OMIM:245650", source="MONDO:equivalentTo"}
xref: SCTID:719409004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1855535 {source="OMIM:245650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2371", source="ORDO:2371/e"}
xref: UMLS:C4304741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015332 {source="Orphanet:2371"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0019700 {source="Orphanet:2371"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C537872
property_value: exactMatch http://identifiers.org/omim/245650
property_value: exactMatch http://identifiers.org/snomedct/719409004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304741
property_value: exactMatch Orphanet:2371

[Term]
id: MONDO:0009513
name: laryngo-onycho-cutaneous syndrome
def: "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." [Orphanet:2407]
subset: ordo_disease {source="Orphanet:2407"}
synonym: "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" EXACT [Orphanet:2407]
synonym: "laryngo-onycho-cutaneous syndrome" EXACT [Orphanet:2407]
synonym: "LARYNGOONYCHOCUTANEOUS syndrome" RELATED [MONDO:Lexical, OMIM:245660]
synonym: "LARYNGOONYCHOCUTANEOUS syndrome; LOCS" RELATED [OMIM:245660]
synonym: "LOC syndrome" EXACT [Orphanet:2407]
synonym: "LOCS" RELATED [MONDO:Lexical, OMIM:245660]
synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407]
synonym: "Shabbir syndrome" EXACT [Orphanet:2407]
xref: GARD:0000368 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.8 {source="ORDO:2407/attributed", source="ORDO:2407/ntbt", source="Orphanet:2407"}
xref: MESH:C537032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:245660 {source="MONDO:equivalentTo", source="Orphanet:2407", source="ORDO:2407/e"}
xref: Orphanet:2407 {source="OMIM:245660", source="MONDO:equivalentTo"}
xref: SCTID:722675000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1328355 {source="NCBI:mim2gene_medline", source="OMIM:245660", source="MONDO:equivalentTo", source="Orphanet:2407"}
is_a: MONDO:0015222 {source="Orphanet:2407"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2407"} ! respiratory malformation
is_a: MONDO:0016997 {source="Orphanet:2407"} ! hereditary epidermolysis bullosa associated with ocular features
is_a: MONDO:0017612 {source="Orphanet:2407", source="linkedlifedata"} ! junctional epidermolysis bullosa
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2407"} ! non-syndromic respiratory or mediastinal malformation
property_value: exactMatch http://identifiers.org/mesh/C537032
property_value: exactMatch http://identifiers.org/omim/245660
property_value: exactMatch http://identifiers.org/snomedct/722675000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328355
property_value: exactMatch Orphanet:2407

[Term]
id: MONDO:0009514
name: Laurence-Moon syndrome
def: "Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." [Orphanet:2377]
subset: gard_rare {source="GARD:0012635"}
subset: ordo_malformation_syndrome {source="Orphanet:2377"}
synonym: "Laurence-Moon syndrome" EXACT [MONDO:Lexical, OMIM:245800]
synonym: "Laurence-MOON syndrome; LNMS" RELATED [OMIM:245800]
synonym: "Laurence-Moon-Biedl syndrome" RELATED [DOID:1930, MTHICD9_2006:759.89]
synonym: "LNMS" RELATED [MONDO:Lexical, OMIM:245800]
xref: DOID:1930 {source="MONDO:equivalentTo"}
xref: GARD:0012635 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2377", source="ORDO:2377/inclusion", source="ORDO:2377/ntbt"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056710 {source="Orphanet:2377", source="ORDO:2377/e"}
xref: MESH:D007849 {source="Orphanet:2377", source="ORDO:2377/e", source="MONDO:equivalentTo", source="DOID:1930", source="MONDO:ontobio"}
xref: NCIT:C34760 {source="MONDO:kboom-pr-0.96/0.85/1.58", source="MONDO:equivalentTo", source="DOID:1930"}
xref: OMIM:245800 {source="Orphanet:2377", source="ORDO:2377/e", source="MONDO:equivalentTo", source="DOID:1930"}
xref: Orphanet:2377 {source="MONDO:equivalentTo", source="OMIM:245800"}
xref: SCTID:232059000 {source="MONDO:equivalentTo", source="DOID:1930", source="MONDO:kboom-pr-0.95/0.83/1.43"}
xref: UMLS:C0023138 {source="Orphanet:2377", source="ORDO:2377/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34760", source="DOID:1930", source="OMIM:245800"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2377", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 {source="DOID:1930", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:2377"} ! syndromic developmental defect of the eye
is_a: MONDO:0015890 {source="Orphanet:2377"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0020240 {source="Orphanet:2377"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020244 {source="Orphanet:2377"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/232060005
property_value: exactMatch DOID:1930
property_value: exactMatch http://identifiers.org/meddra/10056710
property_value: exactMatch http://identifiers.org/mesh/D007849
property_value: exactMatch http://identifiers.org/omim/245800
property_value: exactMatch http://identifiers.org/snomedct/232059000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023138
property_value: exactMatch NCIT:C34760
property_value: exactMatch Orphanet:2377
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome xsd:anyURI {source="GARD:0012635"}

[Term]
id: MONDO:0009515
name: Norum disease
def: "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." [Orphanet:79293]
subset: ordo_clinical_subtype {source="Orphanet:79293"}
synonym: "complete LCAT deficiency" EXACT [Orphanet:79293]
synonym: "familial LCAT deficiency" RELATED [Orphanet:79293]
synonym: "FLD" EXACT [Orphanet:79293]
synonym: "LCAT deficiency" RELATED [OMIM:245900]
synonym: "lecithin acyltransferase deficiency" EXACT [CSP2005:1849-5422, DOID:1391]
synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMIM:245900]
synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293]
xref: DOID:1391 {source="MONDO:equivalentTo"}
xref: GARD:0004011 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.6 {source="Orphanet:79293", source="ORDO:79293/attributed", source="ORDO:79293/ntbt", source="DOID:1391"}
xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:245900 {source="ORDO:79293/e", source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391"}
xref: Orphanet:79293 {source="MONDO:equivalentTo", source="OMIM:245900"}
xref: SCTID:238091006 {source="MONDO:equivalentTo", source="DOID:1391", source="MONDO:kboom-pr-0.65/0.29/0.06"}
xref: UMLS:CN205883 {source="MONDO:equivalentTo"}
is_a: MONDO:0001822 {source="DOID:1391"} ! hypolipoproteinemia (disease)
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0018999 {source="Orphanet:79293"} ! LCAT deficiency
property_value: closeMatch http://identifiers.org/mesh/D007863
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023195
property_value: exactMatch DOID:1391
property_value: exactMatch http://identifiers.org/omim/245900
property_value: exactMatch http://identifiers.org/snomedct/238091006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205883
property_value: exactMatch NCIT:C84813
property_value: exactMatch Orphanet:79293

[Term]
id: MONDO:0009516
name: absence deformity of leg-cataract syndrome
def: "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." [Orphanet:2310]
subset: ordo_malformation_syndrome {source="Orphanet:2310"}
synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000]
xref: MESH:C565442 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:246000 {source="ORDO:2310/e", source="Orphanet:2310", source="MONDO:equivalentTo"}
xref: Orphanet:2310 {source="OMIM:246000", source="MONDO:equivalentTo"}
xref: UMLS:C1855523 {source="OMIM:246000", source="Orphanet:2310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:2310"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2310", source="Orphanet:2310/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C565442
property_value: exactMatch http://identifiers.org/omim/246000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855523
property_value: exactMatch Orphanet:2310

[Term]
id: MONDO:0009517
name: Donohue syndrome
def: "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation." [Orphanet:508]
subset: ordo_malformation_syndrome {source="Orphanet:508"}
synonym: "Donohue syndrome" EXACT [OMIM:246200, Orphanet:508]
synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200]
synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200]
xref: DOID:0050470 {source="MONDO:equivalentTo"}
xref: GARD:0006885 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E34.8 {source="ORDO:508/index", source="ORDO:508/ntbt", source="Orphanet:508"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D056731 {source="MONDO:equivalentTo", source="DOID:0050470"}
xref: NCIT:C84676 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050470"}
xref: OMIM:246200 {source="MONDO:equivalentTo", source="ORDO:508/e", source="Orphanet:508", source="DOID:0050470"}
xref: Orphanet:508 {source="OMIM:246200", source="MONDO:equivalentTo"}
xref: SCTID:111307005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.68", source="DOID:0050470"}
xref: UMLS:C0265344 {source="OMIM:246200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:508/e", source="Orphanet:508", source="DOID:0050470", source="NCIT:C84676"}
is_a: MONDO:0002254 {source="MONDOLEX:0009517", source="NCIT:C84676"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050470", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:508"} ! progeroid syndrome
is_a: MONDO:0015885 {source="Orphanet:508"} ! rare insulin-resistance syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019280 {source="Orphanet:508"} ! hypertrichosis (disease)
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:508"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271689
property_value: exactMatch DOID:0050470
property_value: exactMatch http://identifiers.org/mesh/D056731
property_value: exactMatch http://identifiers.org/omim/246200
property_value: exactMatch http://identifiers.org/snomedct/111307005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265344
property_value: exactMatch NCIT:C84676
property_value: exactMatch Orphanet:508

[Term]
id: MONDO:0009518
name: leprosy, susceptibility to, 3
def: "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in TLR2" EXACT [MONDO:design_pattern]
synonym: "leprosy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:246300]
synonym: "leprosy, susceptibility to, 3; LPRS3" RELATED [OMIM:246300]
synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:246300]
synonym: "LPRS3" RELATED [MONDO:Lexical, OMIM:246300]
synonym: "susceptibility to leprosy 3" RELATED [OMIM:246300]
synonym: "TLR2 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:246300 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
relationship: predisposes_towards MONDO:0005124 ! leprosy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968668
property_value: exactMatch http://identifiers.org/omim/246300

[Term]
id: MONDO:0009519
name: letterer-Siwe disease
def: "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." [NCIT:C3160]
subset: ordo_disease {source="Orphanet:99870"}
synonym: "acute and disseminated Langerhans cell histiocytosis" EXACT [Orphanet:99870]
synonym: "acute disseminated Langerhans cell histiocytosis" EXACT [NCIT:C3160]
synonym: "histiocytosis X, acute disseminated" RELATED [OMIM:246400]
synonym: "L-S disease" RELATED [OMIM:246400]
synonym: "letterer-Siwe disease" EXACT [NCIT:C3160, OMIM:246400]
synonym: "multifocal multisystem Langerhans cell histiocytosis" EXACT [NCIT:C3160]
xref: ICD10:C96.0 {source="ORDO:99870/e", source="Orphanet:99870"}
xref: ICDO:9754/3 {source="NCIT:C3160"}
xref: MedDRA:10024265 {source="ORDO:99870/e", source="Orphanet:99870"}
xref: NCIT:C3160 {source="kboom:pr0.79-conf5.41", source="MONDO:equivalentTo"}
xref: OMIM:246400 {source="MONDO:equivalentTo", source="ORDO:99870/e", source="Orphanet:99870"}
xref: Orphanet:99870 {source="MONDO:equivalentTo", source="OMIM:246400"}
xref: UMLS:C0023381 {source="NCIT:C3160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:246400", source="ORDO:99870/e", source="Orphanet:99870"}
is_a: MONDO:0017025 {source="MONDOLEX:0009519", source="Orphanet:99870"} ! Langerhans cell histiocytosis specific to childhood
property_value: exactMatch http://identifiers.org/meddra/10024265
property_value: exactMatch http://identifiers.org/mesh/C538636
property_value: exactMatch http://identifiers.org/omim/246400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023381
property_value: exactMatch NCIT:C3160
property_value: exactMatch Orphanet:99870

[Term]
id: MONDO:0009520
name: 3-hydroxy-3-methylglutaric aciduria
def: "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." [Orphanet:20]
subset: ordo_disease {source="Orphanet:20"}
synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [MONDO:Lexical, OMIM:246450, Orphanet:20]
synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMGCLD" RELATED [OMIM:246450]
synonym: "3-OH 3-Methyl glutaric aciduria" EXACT [NCIT:C84523]
synonym: "defect in leucine metabolism" RELATED [GARD:0008387]
synonym: "deficiency of hydroxymethylglutaryl-CoA lyase" EXACT [NCIT:C84523]
synonym: "HL deficiency" RELATED [OMIM:246450]
synonym: "HMG CoA lyase deficiency" RELATED [GARD:0008387]
synonym: "HMG-CoA lyase deficiency" EXACT [Orphanet:20]
synonym: "HMG-Coa lyase deficiency" RELATED [OMIM:246450]
synonym: "Hmgcl deficiency" RELATED [OMIM:246450]
synonym: "HMGCLD" RELATED [MONDO:Lexical, OMIM:246450]
synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20]
synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523]
xref: GARD:0008387 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="Orphanet:20", source="ORDO:20/attributed", source="ORDO:20/ntbt"}
xref: MESH:C538324 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84523 {source="MONDO:equivalentTo"}
xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="ORDO:20/e"}
xref: Orphanet:20 {source="OMIM:246450", source="MONDO:equivalentTo"}
xref: SCTID:410059004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0268601 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:20", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C1533587 {source="Orphanet:20", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="ORDO:20/e"}
is_a: MONDO:0017713 {source="Orphanet:20"} ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0019215 {source="Orphanet:20"} ! classic organic aciduria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415614
property_value: exactMatch http://identifiers.org/mesh/C538324
property_value: exactMatch http://identifiers.org/omim/246450
property_value: exactMatch http://identifiers.org/snomedct/410059004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533587
property_value: exactMatch NCIT:C84523
property_value: exactMatch Orphanet:20

[Term]
id: MONDO:0009521
name: leukemia, acute myelocytic, with polyposis coli and colon cancer
synonym: "leukemia, acute myelocytic, with polyposis coli and colon cancer" EXACT [OMIM:246470]
xref: MESH:C565441 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:246470 {source="MONDO:equivalentTo"}
xref: UMLS:C1855505 {source="OMIM:246470", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565441/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565441
property_value: exactMatch http://identifiers.org/omim/246470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855505

[Term]
id: MONDO:0009522
name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
def: "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." [Orphanet:1816]
subset: ordo_malformation_syndrome {source="Orphanet:1816"}
synonym: "Berlin syndrome" EXACT [Orphanet:1816]
synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816]
synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" RELATED [OMIM:246500]
xref: ICD10:Q82.4 {source="ORDO:1816/attributed", source="ORDO:1816/ntbt", source="Orphanet:1816"}
xref: MESH:C565440 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:246500 {source="MONDO:equivalentTo", source="ORDO:1816/e", source="Orphanet:1816"}
xref: Orphanet:1816 {source="MONDO:equivalentTo", source="OMIM:246500"}
xref: SCTID:239032007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0406729 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
xref: UMLS:C1855504 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:246500", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1816"}
is_a: MONDO:0019287 {source="MONDOLEX:0009522", source="Orphanet:1816", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C565440
property_value: exactMatch http://identifiers.org/omim/246500
property_value: exactMatch http://identifiers.org/snomedct/239032007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855504
property_value: exactMatch Orphanet:1816

[Term]
id: MONDO:0009523
name: Lichtenstein syndrome
def: "Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." [Orphanet:2390]
subset: gard_rare {source="GARD:0003248"}
subset: ordo_disease {source="Orphanet:2390"}
synonym: "Lichtenstein syndrome" EXACT [OMIM:246550]
synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248]
xref: GARD:0003248 {source="MONDO:equivalentTo"}
xref: MESH:C535894 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:246550 {source="MONDO:equivalentTo", source="ORDO:2390/e", source="Orphanet:2390"}
xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"}
xref: SCTID:763668009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855502 {source="MEDGEN:kboom-pr98-c99", source="OMIM:246550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2390/e", source="Orphanet:2390"}
is_a: MONDO:0018032 {source="Orphanet:2390"} ! constitutional neutropenia with extra-hematopoietic manifestations
property_value: exactMatch http://identifiers.org/mesh/C535894
property_value: exactMatch http://identifiers.org/omim/246550
property_value: exactMatch http://identifiers.org/snomedct/763668009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855502
property_value: exactMatch Orphanet:2390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome xsd:anyURI {source="GARD:0003248"}

[Term]
id: MONDO:0009524
name: intellectual disability-spasticity-ectrodactyly syndrome
def: "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." [Orphanet:1891]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1891"}
synonym: "ectrodactyly, spastic paraplegia and mental retardation" RELATED [GARD:0003523, MESH:C537446]
synonym: "Jancar syndrome" EXACT [GARD:0003523, MESH:C537446, Orphanet:1891]
synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED [OMIM:246555]
synonym: "mental retardation spasticity ectrodactyly" RELATED [GARD:0003523]
synonym: "mental retardation, spasticity and transverse limb defects" RELATED [GARD:0003523, MESH:C537446]
xref: GARD:0003523 {source="MONDO:equivalentTo"}
xref: MESH:C537446 {source="MONDO:equivalentTo"}
xref: OMIM:246555 {source="Orphanet:1891", source="ORDO:1891/e", source="GARD:0003523", source="MONDO:equivalentTo"}
xref: Orphanet:1891 {source="MONDO:equivalentTo", source="OMIM:246555"}
xref: SCTID:763743003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796001 {source="Orphanet:1891", source="ORDO:1891/e", source="GARD:0003523", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1891", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017432 {source="Orphanet:1891"} ! syndrome with limb reduction defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855501
property_value: exactMatch http://identifiers.org/mesh/C537446
property_value: exactMatch http://identifiers.org/omim/246555
property_value: exactMatch http://identifiers.org/snomedct/763743003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796001
property_value: exactMatch Orphanet:1891
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly xsd:anyURI {source="GARD:0003523"}

[Term]
id: MONDO:0009525
name: split hand-foot malformation 3
def: "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." [Orphanet:1307]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1307"}
synonym: "10q24 microduplication syndrome" EXACT [Orphanet:1307]
synonym: "Buttiens Fryns syndrome" RELATED [GARD:0003252]
synonym: "Buttiens-Fryns syndrome" EXACT [Orphanet:1307]
synonym: "chromosome 10Q24 Duplication syndrome" RELATED [OMIM:246560]
synonym: "chromosome 10q24 duplication syndrome" EXACT [DOID:0090025]
synonym: "distal limb deficiencies with micrognathia" EXACT [DOID:0090025]
synonym: "distal limb deficiencies-micrognathia syndrome" RELATED [Orphanet:1307]
synonym: "limb deficiencies distal with micrognathia" RELATED [GARD:0003252]
synonym: "limb deficiencies, distal, with micrognathia" RELATED [OMIM:246560]
synonym: "SHFM3" EXACT [DOID:0090025, MONDO:Lexical, OMIM:246560]
synonym: "Shsf3" RELATED [OMIM:246560]
synonym: "split hand-foot malformation type 3" EXACT [DOID:0090025, MONDORULE:1]
synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical, OMIM:246560]
synonym: "split-hand/foot malformation 3; SHFM3" RELATED [OMIM:246560]
synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, OMIM:246560]
xref: DOID:0090025 {source="MONDO:equivalentTo"}
xref: GARD:0003252 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090025"}
xref: ICD10:Q92.3 {source="ORDO:1307/attributed", source="ORDO:1307/ntbt", source="Orphanet:1307"}
xref: MESH:C565437 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75121 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:246560 {source="DOID:0090025", source="MONDO:equivalentTo", source="Orphanet:1307", source="ORDO:1307/e", source="GARD:0003252"}
xref: Orphanet:1307 {source="OMIM:246560", source="MONDO:equivalentTo", source="GARD:0003252"}
xref: SCTID:722429003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.86"}
is_a: MONDO:0015226 ! syndrome with limb malformations as a major feature
is_a: MONDO:0016576 {source="DOID:0090025", source="NCIT:C75121", source="OMIM:246560"} ! split hand-foot malformation
is_a: MONDO:0016961 {source="Orphanet:1307"} ! partial duplication of the long arm of chromosome 10
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1307"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838652
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855500
property_value: exactMatch DOID:0090025
property_value: exactMatch http://identifiers.org/mesh/C565437
property_value: exactMatch http://identifiers.org/omim/246560
property_value: exactMatch http://identifiers.org/snomedct/722429003
property_value: exactMatch NCIT:C75121
property_value: exactMatch Orphanet:1307
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia xsd:anyURI {source="GARD:0003252"}

[Term]
id: MONDO:0009526
name: fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:480773"}
synonym: "FATCO syndrome" EXACT [OMIM:246570, Orphanet:480773]
synonym: "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" EXACT [OMIM:246570]
synonym: "fibular aplasia-tibial campomelia-oligosyndactyly syndrome" EXACT [Orphanet:480773]
synonym: "limb deficiency-heart malformation syndrome" RELATED [GARD:0002622]
synonym: "terminal transverse defects of the limbs associated with congenital heart malformations" EXACT [GARD:0002622]
xref: GARD:0002622 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:246570 {source="MONDO:equivalentTo"}
xref: Orphanet:480773 {source="MONDO:equivalentTo"}
xref: UMLS:C1855499 {source="OMIM:246570", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN776928 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017432 {source="Orphanet:480773"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:480773"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/omim/246570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776928
property_value: exactMatch Orphanet:480773

[Term]
id: MONDO:0009527
name: lipase deficiency, combined
def: "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." [NCIT:C126558]
subset: gard_rare {source="GARD:0010244"}
subset: ordo_etiological_subtype
synonym: "combined lipase deficiency" EXACT [NCIT:C126558]
synonym: "lipase deficiency combined" RELATED [GARD:0010244]
synonym: "lipase deficiency, combined" EXACT [OMIM:246650]
synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" RELATED [OMIM:246650]
synonym: "LPL and HL deficiency" RELATED [OMIM:246650]
synonym: "LPL and HTGL deficiency" RELATED [OMIM:246650]
xref: GARD:0010244 {source="MONDO:equivalentTo"}
xref: MESH:C535904 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126558 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"}
xref: OMIM:246650 {source="MONDO:equivalentTo", source="Orphanet:535453"}
xref: Orphanet:535453 {source="MONDO:equivalentTo"}
xref: UMLS:C1855498 {source="NCBI:mim2gene_medline", source="OMIM:246650", source="MONDO:equivalentTo", source="NCIT:C126558"}
is_a: MONDO:0001336 ! familial hyperlipidemia
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018637 {source="Orphanet:535453"} ! familial chylomicronemia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535904
property_value: exactMatch http://identifiers.org/omim/246650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855498
property_value: exactMatch NCIT:C126558
property_value: exactMatch Orphanet:535453
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined xsd:anyURI {source="GARD:0010244"}

[Term]
id: MONDO:0009528
name: chylomicron retention disease
def: "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." [Orphanet:71]
subset: gard_rare {source="GARD:0009683"}
subset: ordo_disease {source="Orphanet:71"}
synonym: "Anderson disease" EXACT [DOID:0060357, OMIM:246700, Orphanet:71]
synonym: "chylomicron retention disease" EXACT [MONDO:Lexical, OMIM:246700]
synonym: "chylomicron retention disease; CMRD" RELATED [OMIM:246700]
synonym: "CMRD" EXACT [DOID:0060357, MONDO:Lexical, OMIM:246700, Orphanet:71]
synonym: "CRD" EXACT [Orphanet:71]
synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells" RELATED [OMIM:246700]
synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" RELATED [GARD:0009683]
synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700]
xref: DOID:0060357 {source="MONDO:equivalentTo"}
xref: GARD:0009683 {source="MONDO:equivalentTo"}
xref: ICD10:E78.3 {source="DOID:0060357"}
xref: ICD10:E78.6 {source="ORDO:71/attributed", source="ORDO:71/ntbt", source="Orphanet:71"}
xref: MESH:C535460 {source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="MONDO:ontobio", source="Orphanet:71"}
xref: OMIM:246700 {source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="Orphanet:71"}
xref: Orphanet:71 {source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700"}
xref: SCTID:702364003 {source="MONDO:equivalentTo", source="DOID:0060357", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0795956 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="OMIM:246700", source="Orphanet:71"}
is_a: MONDO:0015180 {source="Orphanet:71"} ! intestinal disease due to fat malabsorption
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017774 {source="MESH:C535460", source="Orphanet:71"} ! hypobetalipoproteinemia
property_value: closeMatch http://identifiers.org/snomedct/190792005
property_value: exactMatch DOID:0060357
property_value: exactMatch http://identifiers.org/mesh/C535460
property_value: exactMatch http://identifiers.org/omim/246700
property_value: exactMatch http://identifiers.org/snomedct/702364003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795956
property_value: exactMatch Orphanet:71
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease xsd:anyURI {source="GARD:0009683"}

[Term]
id: MONDO:0009529
name: pyruvate dehydrogenase E3 deficiency
def: "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." [Orphanet:2394]
subset: ordo_clinical_subtype {source="Orphanet:2394"}
synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [Orphanet:2394]
synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [MONDO:Lexical, OMIM:246900]
synonym: "dihydrolipoamide dehydrogenase deficiency; DLDD" RELATED [OMIM:246900]
synonym: "DLD deficiency" EXACT [Orphanet:2394]
synonym: "Dld deficiency" RELATED [OMIM:246900]
synonym: "DLDD" RELATED [MONDO:Lexical, OMIM:246900]
synonym: "E3 deficiency" RELATED [OMIM:246900]
synonym: "E3-deficient maple syrup urine disease" EXACT [Orphanet:2394]
synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [OMIM:246900]
synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900]
synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263]
xref: GARD:0003263 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.4 {source="ORDO:2394/attributed", source="ORDO:2394/ntbt", source="Orphanet:2394"}
xref: OMIM:246900 {source="MONDO:equivalentTo", source="ORDO:2394/e", source="Orphanet:2394"}
xref: Orphanet:2394 {source="MONDO:equivalentTo", source="OMIM:246900"}
xref: SCTID:29914000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0268193 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="OMIM:246900"}
xref: UMLS:CN043137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009563 {source="DC-OMIM:246900", source="OMIM:246900", source="linkedlifedata"} ! maple syrup urine disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018424 {source="Orphanet:2394"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019169 {source="Orphanet:2394"} ! pyruvate dehydrogenase deficiency
relationship: excluded_subClassOf MONDO:0009637 {source="Orphanet:2394"} ! inborn mitochondrial myopathy
property_value: exactMatch http://identifiers.org/omim/246900
property_value: exactMatch http://identifiers.org/snomedct/29914000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043137
property_value: exactMatch Orphanet:2394

[Term]
id: MONDO:0009530
name: lipoid proteinosis
def: "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." [Orphanet:530]
subset: ordo_malformation_syndrome {source="Orphanet:530"}
synonym: "hyalinosis cutis Et mucosae" RELATED [OMIM:247100]
synonym: "hyalinosis cutis et mucosae" EXACT [Orphanet:530]
synonym: "lipid proteinosis" EXACT [DOID:14498]
synonym: "lipoid proteinosis" EXACT [DOID:14498, OMIM:247100]
synonym: "lipoid proteinosis of Urbach and Wiethe" RELATED [OMIM:247100]
synonym: "lipoproteinosis" EXACT [NCIT:C84829]
synonym: "Urbach Wiethe disease" RELATED [GARD:0003268]
synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530]
xref: DOID:14498 {source="MONDO:equivalentTo"}
xref: GARD:0003268 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.8 {source="ORDO:530/ntbt", source="ORDO:530/index", source="Orphanet:530"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498", source="MONDO:ontobio"}
xref: NCIT:C84829 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95", source="DOID:14498"}
xref: OMIM:247100 {source="MONDO:equivalentTo", source="DOID:14498", source="ORDO:530/e", source="Orphanet:530"}
xref: Orphanet:530 {source="OMIM:247100", source="MONDO:equivalentTo"}
xref: SCTID:38692000 {source="MONDO:equivalentTo", source="DOID:14498", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023795 {source="MEDGEN:kboom-pr98-c99", source="OMIM:247100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84829", source="DOID:14498", source="Orphanet:530"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:530"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0018798 {source="Orphanet:530"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:530"} ! dermis disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/238950006
property_value: exactMatch DOID:14498
property_value: exactMatch http://identifiers.org/mesh/D008065
property_value: exactMatch http://identifiers.org/omim/247100
property_value: exactMatch http://identifiers.org/snomedct/38692000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023795
property_value: exactMatch NCIT:C84829
property_value: exactMatch Orphanet:530

[Term]
id: MONDO:0009531
name: obsolete lip prints
synonym: "lip prints" EXACT [OMIM:247150]
xref: OMIM:247150 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855497
property_value: exactMatch http://identifiers.org/omim/247150
is_obsolete: true

[Term]
id: MONDO:0009532
name: Miller-Dieker lissencephaly syndrome
def: "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." [NCIT:C124852]
subset: ordo_malformation_syndrome {source="Orphanet:531"}
synonym: "chromosome 17P13.3 deletion syndrome" RELATED [OMIM:247200]
synonym: "lissencephaly due to 17p13.3 deletion" EXACT [Orphanet:531]
synonym: "MDLS" RELATED [MONDO:Lexical, OMIM:247200]
synonym: "MDS" EXACT EXCLUDE [DOID:0060469]
synonym: "Miller-Dieker lissencephaly syndrome" EXACT [MONDO:Lexical, OMIM:247200]
synonym: "Miller-Dieker lissencephaly syndrome; MDLS" RELATED [OMIM:247200]
synonym: "Miller-Dieker syndrome" EXACT [DOID:0060469]
synonym: "Miller-Dieker syndrome chromosome region" RELATED [OMIM:247200]
synonym: "monosomy 17p13.3" EXACT [Orphanet:531]
synonym: "telomeric deletion 17p" EXACT [Orphanet:531]
xref: DOID:0060469 {source="MONDO:equivalentTo"}
xref: GARD:0003669 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="ORDO:531/inclusion", source="DOID:0060469", source="ORDO:531/ntbt", source="Orphanet:531"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068361 {source="ORDO:531/e", source="Orphanet:531"}
xref: NCIT:C124852 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.32"}
xref: OMIM:247200 {source="MONDO:equivalentTo", source="DOID:0060469", source="ORDO:531/e", source="Orphanet:531"}
xref: Orphanet:531 {source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469"}
xref: SCTID:253148005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20"}
xref: UMLS:C0265219 {source="NCBI:mim2gene_medline", source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469", source="NCIT:C124852", source="ORDO:531/e", source="Orphanet:531"}
is_a: MONDO:0015146 {source="Orphanet:531"} ! classic lissencephaly
is_a: MONDO:0015652 {source="Orphanet:531", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016895 {source="Orphanet:531"} ! partial monosomy of the short arm of chromosome 17
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855481
property_value: exactMatch DOID:0060469
property_value: exactMatch http://identifiers.org/meddra/10068361
property_value: exactMatch http://identifiers.org/mesh/D054221
property_value: exactMatch http://identifiers.org/omim/247200
property_value: exactMatch http://identifiers.org/snomedct/253148005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265219
property_value: exactMatch NCIT:C124852
property_value: exactMatch Orphanet:531

[Term]
id: MONDO:0009533
name: Dahlberg-Borer-Newcomer syndrome
def: "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." [Orphanet:1563]
subset: gard_rare {source="GARD:0000237"}
subset: ordo_malformation_syndrome {source="Orphanet:1563"}
synonym: "Dahlberg Borer Newcomer syndrome" RELATED [GARD:0000237]
synonym: "Dahlberg syndrome" EXACT [Orphanet:1563]
synonym: "hypoparathyroidism lymphedema syndrome" RELATED [GARD:0000237]
synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410]
synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237]
synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [Orphanet:1563]
synonym: "lymphedema-hypoparathyroidism syndrome" RELATED [OMIM:247410]
xref: GARD:0000237 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1563/specific", source="Orphanet:1563", source="ORDO:1563/e"}
xref: MESH:C535769 {source="Orphanet:1563", source="ORDO:1563/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247410 {source="Orphanet:1563", source="ORDO:1563/e", source="MONDO:equivalentTo"}
xref: Orphanet:1563 {source="OMIM:247410", source="MONDO:equivalentTo"}
xref: SCTID:721083007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.44"}
xref: UMLS:C1855477 {source="Orphanet:1563", source="ORDO:1563/e", source="OMIM:247410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015895 {source="Orphanet:1563"} ! syndrome with hypoparathyroidism
is_a: MONDO:0018722 {source="Orphanet:1563"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019287 {source="Orphanet:1563", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1563"} ! syndromic lymphedema
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1563"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535769
property_value: exactMatch http://identifiers.org/omim/247410
property_value: exactMatch http://identifiers.org/snomedct/721083007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855477
property_value: exactMatch Orphanet:1563
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome xsd:anyURI {source="GARD:0000237"}

[Term]
id: MONDO:0009534
name: chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
synonym: "lymphoblastic transformation, inhibition of" EXACT [OMIM:247430]
xref: MESH:C565433 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247430 {source="MONDO:equivalentTo"}
is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855476
property_value: exactMatch http://identifiers.org/mesh/C565433
property_value: exactMatch http://identifiers.org/omim/247430

[Term]
id: MONDO:0009535
name: lymphedema, congenital recessive
synonym: "lymphedema, congenital recessive" EXACT [OMIM:247440]
xref: MESH:C565432 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247440 {source="MONDO:equivalentTo"}
xref: UMLS:C1855475 {source="OMIM:247440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019313 {source="ORDO:79452/btnt"} ! hereditary lymphedema
property_value: exactMatch http://identifiers.org/mesh/C565432
property_value: exactMatch http://identifiers.org/omim/247440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855475

[Term]
id: MONDO:0009536
name: chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
synonym: "lymphoblastic transformation, intrinsic defect IN" RELATED [OMIM:247450]
synonym: "lymphoblastic transformation, intrinsic defect type 1N" EXACT [MONDORULE:4, OMIM:247450]
xref: MESH:C565431 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855474 {source="OMIM:247450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/mesh/C565431
property_value: exactMatch http://identifiers.org/omim/247450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855474

[Term]
id: MONDO:0009537
name: lymphoid interstitial pneumonia
def: "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." [NCIT:C27558]
subset: ordo_disease {source="Orphanet:79128"}
synonym: "diffuse hyperplasia of bronchus-associated lymphoid tissue" EXACT [NCIT:C27558]
synonym: "LIP" RELATED [MONDO:Lexical, OMIM:247610]
synonym: "lymphocytic interst. pneumonitis" EXACT [NCIT:C27558]
synonym: "lymphocytic interstitial pneumonia" EXACT [Orphanet:79128]
synonym: "lymphocytic interstitial pneumonitis" EXACT [NCIT:C27558]
synonym: "lymphoid interstitial pneumonia" EXACT [MONDO:Lexical, OMIM:247610]
synonym: "lymphoid interstitial pneumonia; LIP" RELATED [OMIM:247610]
xref: DOID:0050159 {source="MONDO:equivalentTo"}
xref: ICD10:J84.1 {source="Orphanet:79128", source="ORDO:79128/ntbt"}
xref: ICD10:J84.2 {source="MONDO:equivalentTo"}
xref: ICD9:516.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062997 {source="Orphanet:79128", source="ORDO:79128/e"}
xref: MESH:C562489 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27558 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.31"}
xref: OMIM:247610 {source="Orphanet:79128", source="MONDO:equivalentTo", source="ORDO:79128/e"}
xref: Orphanet:79128 {source="MONDO:equivalentTo", source="OMIM:247610"}
xref: SCTID:44274007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0264511 {source="Orphanet:79128", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:247610", source="NCIT:C27558", source="ORDO:79128/e"}
is_a: MONDO:0002429 {source="DOID:0050159", source="NCIT:C27558", source="Orphanet:79128", source="https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia", source="linkedlifedata"} ! idiopathic interstitial pneumonia
property_value: exactMatch DOID:0050159
property_value: exactMatch http://identifiers.org/meddra/10062997
property_value: exactMatch http://identifiers.org/mesh/C562489
property_value: exactMatch http://identifiers.org/omim/247610
property_value: exactMatch http://identifiers.org/snomedct/44274007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264511
property_value: exactMatch NCIT:C27558
property_value: exactMatch Orphanet:79128

[Term]
id: MONDO:0009538
name: lymphoid system deterioration, progressive
synonym: "lymphoid system deterioration, progressive" EXACT [OMIM:247630]
xref: MESH:C565430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247630 {source="MONDO:equivalentTo"}
xref: UMLS:C1855473 {source="OMIM:247630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565430
property_value: exactMatch http://identifiers.org/omim/247630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855473

[Term]
id: MONDO:0009539
name: lymphoblastic leukemia, acute, with lymphomatous features
synonym: "lall" RELATED [MONDO:Lexical, OMIM:247640]
synonym: "lymphoblastic leukemia, acute, with lymphomatous features" EXACT [MONDO:Lexical, OMIM:247640]
synonym: "lymphoblastic leukemia, acute, with lymphomatous features; lall" RELATED [OMIM:247640]
synonym: "lymphomatous All" RELATED [OMIM:247640]
xref: MESH:C565429 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247640 {source="MONDO:equivalentTo"}
xref: UMLS:C1855472 {source="NCBI:mim2gene_medline", source="OMIM:247640", source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="DC-OMIM:247640", source="MONDOLEX:0009539"} ! acute lymphoblastic leukemia (disease)
property_value: exactMatch http://identifiers.org/mesh/C565429
property_value: exactMatch http://identifiers.org/omim/247640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855472

[Term]
id: MONDO:0009540
name: chronic mucocutaneous candidiasis due to lymphokine deficiency
synonym: "lymphokine deficiency" EXACT [OMIM:247650]
xref: MESH:C565428 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247650 {source="MONDO:equivalentTo"}
xref: UMLS:C1855471 {source="OMIM:247650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 {source="ORDO:1334/btnt"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/mesh/C565428
property_value: exactMatch http://identifiers.org/omim/247650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855471

[Term]
id: MONDO:0009541
name: lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
synonym: "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" EXACT [OMIM:247800]
xref: MESH:C565427 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247800 {source="MONDO:equivalentTo"}
xref: UMLS:C1855470 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:247800"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565427
property_value: exactMatch http://identifiers.org/omim/247800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855470

[Term]
id: MONDO:0009542
name: lysine malabsorption syndrome
synonym: "lysine malabsorption syndrome" EXACT [OMIM:247950]
xref: MESH:C563080 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247950 {source="MONDO:equivalentTo"}
xref: UMLS:C0796023 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:247950"}
is_a: MONDO:0003847 {source="MESH:C563080/inferred"} ! Mendelian disease
is_a: MONDO:0020598 ! malabsorption syndrome
property_value: exactMatch http://identifiers.org/mesh/C563080
property_value: exactMatch http://identifiers.org/omim/247950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796023

[Term]
id: MONDO:0009543
name: prominent glabella-microcephaly-hypogenitalism syndrome
def: "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." [Orphanet:2083]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2083"}
synonym: "Mac Dermot Winter syndrome" RELATED [GARD:0000144]
synonym: "MacDermot-Winter syndrome" EXACT [GARD:0000144, OMIM:247990, Orphanet:2083]
synonym: "prominent glabella microcephaly hypogenitalism" RELATED [GARD:0000144]
xref: GARD:0000144 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2083/attributed", source="ORDO:2083/ntbt", source="Orphanet:2083"}
xref: MESH:C537714 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:247990 {source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083", source="ORDO:2083/e"}
xref: Orphanet:2083 {source="GARD:0000144", source="OMIM:247990", source="MONDO:equivalentTo"}
xref: UMLS:C0796024 {source="GARD:0000144", source="OMIM:247990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2083", source="ORDO:2083/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2083", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2083"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537714
property_value: exactMatch http://identifiers.org/omim/247990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796024
property_value: exactMatch Orphanet:2083
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome xsd:anyURI {source="GARD:0000144"}

[Term]
id: MONDO:0009544
name: macrocephaly/megalencephaly syndrome, autosomal recessive
subset: gard_rare
synonym: "Fryns Dereymaeker Haegeman syndrome" RELATED [GARD:0000148]
synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive" EXACT [MONDO:Lexical, OMIM:248000]
synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive; MGCPH" RELATED [OMIM:248000]
synonym: "mental retardation, macrocephaly, short stature and craniofacial dysmorphism" RELATED [GARD:0000148]
synonym: "MGCPH" RELATED [MONDO:Lexical, OMIM:248000]
xref: GARD:0000148 {source="MONDO:equivalentTo"}
xref: MESH:C537453 {source="MONDO:equivalentTo"}
xref: OMIM:248000 {source="MONDO:equivalentTo", source="GARD:0000148"}
xref: UMLS:C3806412 {source="OMIM:248000", source="MONDO:equivalentTo"}
is_a: MONDO:0016608 {source="MESH:C537453", source="ORDO:2477/btnt"} ! megalencephaly (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2243051
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931497
property_value: exactMatch http://identifiers.org/mesh/C537453
property_value: exactMatch http://identifiers.org/omim/248000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806412

[Term]
id: MONDO:0009545
name: macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
subset: gard_rare {source="GARD:0000173"}
synonym: "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" EXACT [OMIM:248010]
synonym: "Macroepiphyseal dysplasia, McAlister coe type" RELATED [GARD:0000173]
synonym: "McAlister coe Whyte syndrome" RELATED [GARD:0000173]
xref: GARD:0000173 {source="MONDO:equivalentTo"}
xref: MESH:C537721 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248010 {source="MONDO:equivalentTo"}
xref: UMLS:C2931597 {source="OMIM:248010", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855469
property_value: exactMatch http://identifiers.org/mesh/C537721
property_value: exactMatch http://identifiers.org/omim/248010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931597
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance xsd:anyURI {source="GARD:0000173"}

[Term]
id: MONDO:0009546
name: macrosomia adiposa congenita
synonym: "macrosomia adiposa congenita" EXACT [OMIM:248100]
xref: MESH:C565425 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248100 {source="MONDO:equivalentTo"}
xref: UMLS:C1855468 {source="OMIM:248100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565425
property_value: exactMatch http://identifiers.org/omim/248100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855468

[Term]
id: MONDO:0009547
name: macrosomia-microphthalmia-cleft palate syndrome
def: "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." [Orphanet:2432]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2432"}
synonym: "macrosomia microphthalmia cleft palate" RELATED [GARD:0000177]
synonym: "macrosomia with lethal microphthalmia" RELATED [GARD:0000177]
synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110]
synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177]
synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432]
xref: GARD:0000177 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2432", source="ORDO:2432/attributed", source="ORDO:2432/ntbt"}
xref: MESH:C537830 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="ORDO:2432/e", source="MONDO:equivalentTo"}
xref: Orphanet:2432 {source="OMIM:248110", source="GARD:0000177", source="MONDO:equivalentTo"}
xref: UMLS:C1855467 {source="OMIM:248110", source="Orphanet:2432", source="GARD:0000177", source="ORDO:2432/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015335 {source="Orphanet:2432"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2432"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537830
property_value: exactMatch http://identifiers.org/omim/248110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855467
property_value: exactMatch Orphanet:2432

[Term]
id: MONDO:0009548
name: renal hypomagnesemia 5 with ocular involvement
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." [Orphanet:2196]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2196"}
synonym: "bilateral macular coloboma with hypercalciuria" EXACT [DOID:0060881]
synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [DOID:0060881]
synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" RELATED [Orphanet:2196]
synonym: "FHHNC with severe ocular involvement" EXACT [DOID:0060881, OMIM:248190, Orphanet:2196]
synonym: "FHHNCOI" EXACT [MONDO:cjm]
synonym: "HOMG5" RELATED [MONDO:Lexical, OMIM:248190]
synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [DOID:0060881, Orphanet:2196]
synonym: "hypomagnesemia 5, renal, with ocular involvement" RELATED [MONDO:Lexical, OMIM:248190]
synonym: "hypomagnesemia 5, renal, with ocular involvement; HOMG5" RELATED [OMIM:248190]
synonym: "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement" RELATED [OMIM:248190]
synonym: "hypomagnesemia, renal, with ocular involvement" RELATED [OMIM:248190]
synonym: "idiopathic hypercalciuria with bilateral macular colobomata" RELATED [GARD:0003451, MESH:C536148]
synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [OMIM:248190]
synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451]
synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196]
xref: DOID:0060881 {source="MONDO:equivalentTo"}
xref: GARD:0003451 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="DOID:0060881", source="ORDO:2196/attributed", source="ORDO:2196/ntbt", source="Orphanet:2196"}
xref: MESH:C536148 {source="MONDO:equivalentTo"}
xref: OMIM:248190 {source="DOID:0060881", source="MONDO:equivalentTo", source="ORDO:2196/e", source="GARD:0003451", source="Orphanet:2196"}
xref: Orphanet:2196 {source="DOID:0060881", source="MONDO:equivalentTo", source="OMIM:248190"}
is_a: MONDO:0017624 {source="MONDOLEX:0009548", source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
is_a: MONDO:0020243 {source="Orphanet:2196"} ! colobomatous and areolar dystrophy
relationship: excluded_subClassOf MONDO:0010645 {source="MESH:C536148"} ! oculocerebrorenal syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855466
property_value: exactMatch DOID:0060881
property_value: exactMatch http://identifiers.org/mesh/C536148
property_value: exactMatch http://identifiers.org/omim/248190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931121
property_value: exactMatch Orphanet:2196
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome xsd:anyURI {source="GARD:0003451"}

[Term]
id: MONDO:0009549
name: severe early-childhood-onset retinal dystrophy
def: "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy (see this term), characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA; see this term) occurs when patients are characterized by their visual acuity and panretinal dystrophy." [Orphanet:364055]
subset: ordo_disease {source="Orphanet:364055"}
synonym: "early-onset severe retinal dystrophy" EXACT [Orphanet:364055]
synonym: "EOSRD" EXACT [Orphanet:364055]
synonym: "fundus flavimaculatus" RELATED [OMIM:248200]
synonym: "macular Degeneration, juvenile" RELATED [OMIM:248200]
synonym: "macular dystrophy with flecks, type 1" RELATED [OMIM:248200]
synonym: "retinal dystrophy, early-onset severe" RELATED [OMIM:248200]
synonym: "SECORD" EXACT [Orphanet:364055]
synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200]
synonym: "Stargardt disease 1; STGD1" RELATED [OMIM:248200]
synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200]
synonym: "Stgd" RELATED [OMIM:248200]
synonym: "STGD1" RELATED [MONDO:Lexical, OMIM:248200]
xref: ICD10:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="ORDO:364055/attributed", source="ORDO:364055/ntbt"}
xref: OMIM:248200 {source="MONDO:equivalentTo"}
xref: Orphanet:364055 {source="MONDO:equivalentTo"}
xref: SCTID:716663009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.66/0.30/0.09"}
is_a: MONDO:0019353 {source="DC-OMIM:248200"} ! Stargardt disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858080
property_value: exactMatch http://identifiers.org/omim/248200
property_value: exactMatch http://identifiers.org/snomedct/716663009
property_value: exactMatch Orphanet:364055

[Term]
id: MONDO:0009550
name: renal hypomagnesemia 3
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." [Orphanet:31043]
subset: ordo_disease {source="Orphanet:31043"}
synonym: "CLDN16 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CLDN16 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial primary hypomagnesemia caused by mutation in CLDN16" EXACT []
synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [DOID:0060880]
synonym: "FHHNC without severe ocular involvement" EXACT [DOID:0060880, Orphanet:31043]
synonym: "HOMG3" EXACT [DOID:0060880, MESH:C537153, MONDO:Lexical, OMIM:248250, Orphanet:31043]
synonym: "hypercalciuria, childhood, self-limiting" RELATED [OMIM:248250]
synonym: "hypomagnesemia 3, renal" RELATED [MESH:C537153, MONDO:Lexical, OMIM:248250]
synonym: "hypomagnesemia 3, renal; HOMG3" RELATED [OMIM:248250]
synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis" RELATED [MESH:C537153, OMIM:248250]
synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included" RELATED [MESH:C537153]
synonym: "hypomagnesemia, isolated renal" RELATED [MESH:C537153, OMIM:248250]
synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium" RELATED [MESH:C537153]
synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium" RELATED [OMIM:248250]
synonym: "isolated renal hypomagnesemia" EXACT [DOID:0060880]
synonym: "magnesium, defect in renal tubular transport of" RELATED [MESH:C537153]
synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:design_pattern]
synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880]
synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043]
xref: DOID:0060880 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="DOID:0060880", source="ORDO:31043/attributed", source="ORDO:31043/ntbt", source="Orphanet:31043"}
xref: MESH:C537153 {source="MONDO:equivalentTo"}
xref: OMIM:248250 {source="DOID:0060880", source="MONDO:equivalentTo", source="ORDO:31043/e", source="Orphanet:31043"}
xref: Orphanet:31043 {source="DOID:0060880", source="MONDO:equivalentTo", source="OMIM:248250"}
xref: SCTID:725033008 {source="MONDO:equivalentTo"}
is_a: MONDO:0001567 {source="MESH:C537153", source="MONDOLEX:0009550"} ! nephrocalcinosis
is_a: MONDO:0006510 {source="MESH:C537153"} ! renal tubular transport disease
is_a: MONDO:0017624 {source="MONDOLEX:0009550", source="Orphanet:31043"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268448
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151482
property_value: exactMatch DOID:0060880
property_value: exactMatch http://identifiers.org/mesh/C537153
property_value: exactMatch http://identifiers.org/omim/248250
property_value: exactMatch http://identifiers.org/snomedct/725033008
property_value: exactMatch Orphanet:31043

[Term]
id: MONDO:0009551
name: magnesium, elevated red cell
synonym: "magnesium, elevated red cell" EXACT [OMIM:248260]
xref: OMIM:248260 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855464
property_value: exactMatch http://identifiers.org/omim/248260

[Term]
id: MONDO:0009552
name: mal de Meleda
def: "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." [Orphanet:87503]
subset: gard_rare
subset: ordo_disease {source="Orphanet:87503"}
synonym: "keratosis palmoplantaris transgradiens of Siemens" RELATED [GARD:0000092]
synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503]
synonym: "mal de Meleda" EXACT [GARD:0000092, MONDO:Lexical, OMIM:248300]
synonym: "MAL DE Meleda; MDM" RELATED [OMIM:248300]
synonym: "MDM" RELATED [GARD:0000092, MONDO:Lexical, OMIM:248300]
synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503]
synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503]
xref: DOID:0060862 {source="MONDO:equivalentTo"}
xref: GARD:0000092 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0060862", source="Orphanet:87503", source="ORDO:87503/attributed", source="ORDO:87503/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:248300 {source="ORDO:87503/e", source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="GARD:0000092"}
xref: Orphanet:87503 {source="DOID:0060862", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"}
xref: SCTID:239069005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.76"}
xref: UMLS:C0025221 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:87503", source="NCBI:mim2gene_medline", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"}
is_a: MONDO:0020096 {source="Orphanet:87503"} ! autosomal recessive isolated diffuse palmoplantar keratoderma
property_value: exactMatch DOID:0060862
property_value: exactMatch http://identifiers.org/omim/248300
property_value: exactMatch http://identifiers.org/snomedct/239069005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025221
property_value: exactMatch Orphanet:87503

[Term]
id: MONDO:0009553
name: Plasmodium falciparum blood infection level
synonym: "Pfbi" RELATED [OMIM:248310]
synonym: "Plasmodium falciparum blood infection level" EXACT [OMIM:248310]
synonym: "Plasmodium falciparum parasitemia" RELATED [OMIM:248310]
xref: OMIM:248310 {source="MONDO:equivalentTo"}
is_a: MONDO:0005136 {source="DC-OMIM:248310", source="OMIM:248310"} ! malaria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855456
property_value: exactMatch http://identifiers.org/omim/248310

[Term]
id: MONDO:0009554
name: 3MC syndrome 3
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3MC syndrome 3" EXACT [MONDO:Lexical, OMIM:248340]
synonym: "3MC syndrome 3; 3MC3" RELATED [OMIM:248340]
synonym: "3MC syndrome caused by mutation in COLEC10" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 3" EXACT [DOID:0060577, MONDORULE:1]
synonym: "3Mc syndrome type 3" EXACT [MONDORULE:1, OMIM:248340]
synonym: "3MC3" RELATED [MONDO:Lexical, OMIM:248340]
synonym: "COLEC10 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "facial clefting syndrome, Gypsy type" RELATED [OMIM:248340]
synonym: "Malpuech Facial clefting syndrome" RELATED [OMIM:248340]
synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [OMIM:248340]
xref: DOID:0060577 {source="MONDO:equivalentTo"}
xref: MESH:C535704 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248340 {source="MONDO:equivalentTo", source="DOID:0060577"}
xref: Orphanet:2453 {source="OMIM:248340", source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0796032 {source="OMIM:248340", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017398 {source="DC-OMIM:248340", source="DOID:0060577", source="MONDO:Redundant", source="OMIM:248340"} ! 3MC syndrome
property_value: exactMatch DOID:0060577
property_value: exactMatch http://identifiers.org/mesh/C535704
property_value: exactMatch http://identifiers.org/omim/248340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796032
property_value: exactMatch Orphanet:2453

[Term]
id: MONDO:0009555
name: malocclusion and short stature
synonym: "malocclusion and short stature" EXACT [OMIM:248350]
xref: MESH:C565421 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248350 {source="MONDO:equivalentTo"}
xref: UMLS:C1855453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248350"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565421
property_value: exactMatch http://identifiers.org/omim/248350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855453

[Term]
id: MONDO:0009556
name: malonic aciduria
def: "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." [Orphanet:943]
subset: ordo_disease {source="Orphanet:943"}
synonym: "malonic acidemia" RELATED [GARD:0003371]
synonym: "Malonicaciduria" RELATED [GARD:0003371]
synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943]
synonym: "MCD deficiency" RELATED [GARD:0003371]
xref: GARD:0003371 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:943", source="ORDO:943/attributed", source="ORDO:943/ntbt"}
xref: MESH:C535702 {source="ORDO:943/e", source="Orphanet:943", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248360 {source="ORDO:943/e", source="Orphanet:943", source="MONDO:equivalentTo"}
xref: Orphanet:943 {source="MONDO:equivalentTo", source="OMIM:248360"}
xref: SCTID:361203007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342793 {source="ORDO:943/e", source="NCBI:mim2gene_medline", source="Orphanet:943", source="MONDO:equivalentTo", source="OMIM:248360"}
is_a: MONDO:0017717 {source="Orphanet:943"} ! metabolic disease due to other fatty acid oxidation disorder
property_value: exactMatch http://identifiers.org/mesh/C535702
property_value: exactMatch http://identifiers.org/omim/248360
property_value: exactMatch http://identifiers.org/snomedct/361203007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342793
property_value: exactMatch Orphanet:943

[Term]
id: MONDO:0009557
name: mandibuloacral dysplasia with type A lipodystrophy
def: "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." [NCIT:C123417]
subset: gard_rare {source="GARD:0003374"}
subset: ordo_clinical_subtype {source="Orphanet:90153"}
synonym: "craniomandibular Dermatodysostosis" RELATED [OMIM:248370]
synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [OMIM:248370]
synonym: "MADA" RELATED [MONDO:Lexical, OMIM:248370]
synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370]
synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370]
synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy; MADA" RELATED [OMIM:248370]
xref: GARD:0003374 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="Orphanet:90153", source="ORDO:90153/attributed", source="ORDO:90153/ntbt"}
xref: MESH:C535705 {source="ORDO:90153/e", source="Orphanet:90153", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123417 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:248370 {source="ORDO:90153/e", source="Orphanet:90153", source="MONDO:equivalentTo"}
xref: Orphanet:90153 {source="MONDO:equivalentTo", source="OMIM:248370"}
xref: SCTID:109419009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:CN206381 {source="MONDO:equivalentTo"}
xref: UMLS:CN236772 {source="MONDO:equivalentTo"}
is_a: MONDO:0016584 {source="DC-OMIM:248370", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch http://identifiers.org/mesh/C535705
property_value: exactMatch http://identifiers.org/omim/248370
property_value: exactMatch http://identifiers.org/snomedct/109419009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236772
property_value: exactMatch NCIT:C123417
property_value: exactMatch Orphanet:90153
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy xsd:anyURI {source="GARD:0003374"}

[Term]
id: MONDO:0009558
name: Treacher Collins syndrome 3
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009125"}
synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [OMIM:248390]
synonym: "POLR1C Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS3" RELATED [MONDO:Lexical, OMIM:248390]
synonym: "Treacher Collins syndrome 3" EXACT [MONDO:Lexical, OMIM:248390]
synonym: "TREACHER COLLINS syndrome 3; TCS3" RELATED [OMIM:248390]
synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1, OMIM:248390]
synonym: "Treacher-Collins syndrome caused by mutation in POLR1C" EXACT [MONDO:design_pattern]
xref: GARD:0009125 {source="MONDO:equivalentTo"}
xref: MESH:C535707 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248390 {source="MONDO:equivalentTo"}
is_a: MONDO:0002457 {source="MONDO:Redundant", source="MONDOLEX:0009558", source="OMIM:248390"} ! Treacher-Collins syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855433
property_value: exactMatch http://identifiers.org/mesh/C535707
property_value: exactMatch http://identifiers.org/omim/248390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 xsd:anyURI {source="GARD:0009125"}

[Term]
id: MONDO:0009559
name: mandibulofacial dysostosis with mental deficiency
synonym: "mandibulofacial dysostosis with mental deficiency" EXACT [OMIM:248400]
synonym: "mandibulofacial dysostosis with mental retardation" RELATED [OMIM:248400]
xref: MESH:C565420 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248400 {source="MONDO:equivalentTo"}
xref: UMLS:C1855432 {source="OMIM:248400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565420
property_value: exactMatch http://identifiers.org/omim/248400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855432

[Term]
id: MONDO:0009560
name: oculotrichoanal syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2717"}
synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical, OMIM:248450]
synonym: "Manitoba oculotrichoanal syndrome" EXACT [Orphanet:2717]
synonym: "MANITOBA oculotrichoanal syndrome; MOTA" RELATED [OMIM:248450]
synonym: "Manitoba Trichoanal syndrome" RELATED [GARD:0003395]
synonym: "Marles syndrome" EXACT [OMIM:248450, Orphanet:2717]
synonym: "Marles-Greenberg-Persaud syndrome" EXACT [Orphanet:2717]
synonym: "MOTA" RELATED [MONDO:Lexical, OMIM:248450]
synonym: "MOTA syndrome" EXACT [Orphanet:2717]
synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395]
xref: GARD:0003395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2717", source="ORDO:2717/attributed", source="ORDO:2717/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536022 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248450 {source="MONDO:equivalentTo", source="Orphanet:2717", source="ORDO:2717/e"}
xref: Orphanet:2717 {source="OMIM:248450", source="MONDO:equivalentTo"}
xref: SCTID:703539006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1855425 {source="OMIM:248450", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2717", source="ORDO:2717/e"}
is_a: MONDO:0043007 {source="Orphanet:2717"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C536022
property_value: exactMatch http://identifiers.org/omim/248450
property_value: exactMatch http://identifiers.org/snomedct/703539006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855425
property_value: exactMatch Orphanet:2717

[Term]
id: MONDO:0009561
name: alpha-mannosidosis
def: "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." [Orphanet:61]
subset: gard_rare {source="GARD:0006968"}
subset: ordo_disease {source="Orphanet:61"}
synonym: "Alpha mannosidase B deficiency" RELATED [GARD:0006968]
synonym: "Alpha-D-mannosidosis" EXACT [DOID:3413]
synonym: "Alpha-mannosidase B deficiency" RELATED [OMIM:248500]
synonym: "alpha-mannosidase deficiency" EXACT [DOID:3413]
synonym: "alpha-mannosidosis" EXACT [OMIM:248500]
synonym: "deficiency of alpha-mannosidase" EXACT [DOID:3413]
synonym: "lysosomal Alpha-D-mannosidase deficiency" RELATED [OMIM:248500]
synonym: "lysosomal alpha-D-mannosidase deficiency" EXACT [Orphanet:61]
synonym: "mannosidosis, alpha B lysosomal" RELATED [GARD:0006968]
synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical, OMIM:248500]
synonym: "mannosidosis, ALPHA B, lysosomal; MANSA" RELATED [OMIM:248500]
synonym: "MANSA" RELATED [MONDO:Lexical, OMIM:248500]
xref: DOID:3413 {source="MONDO:equivalentTo"}
xref: GARD:0006968 {source="MONDO:equivalentTo"}
xref: ICD10:E77.1 {source="ORDO:61/inclusion", source="Orphanet:61", source="ORDO:61/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D008363 {source="MONDO:equivalentTo", source="DOID:3413", source="MONDO:ontobio", source="Orphanet:61", source="ORDO:61/e"}
xref: NCIT:C84548 {source="MONDO:equivalentTo", source="DOID:3413", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:248500 {source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61", source="ORDO:61/e"}
xref: Orphanet:61 {source="MONDO:equivalentTo", source="OMIM:248500"}
xref: SCTID:65524005 {source="MONDO:equivalentTo", source="DOID:3413"}
xref: UMLS:C0024748 {source="NCIT:C84548", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3413", source="OMIM:248500", source="Orphanet:61", source="ORDO:61/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019058 {source="Orphanet:61"} ! neurometabolic disease
is_a: MONDO:0019251 {source="Orphanet:61"} ! oligosaccharidosis
is_a: MONDO:0019706 {source="Orphanet:61"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020228 {source="Orphanet:61"} ! cataract associated with a metabolic disease
is_a: MONDO:0020279 {source="Orphanet:61"} ! metabolic disease with corneal opacity
is_a: MONDO:0020280 {source="Orphanet:61"} ! metabolic disease with cataract
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124466001
property_value: exactMatch DOID:3413
property_value: exactMatch http://identifiers.org/mesh/D008363
property_value: exactMatch http://identifiers.org/omim/248500
property_value: exactMatch http://identifiers.org/snomedct/65524005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024748
property_value: exactMatch NCIT:C84548
property_value: exactMatch Orphanet:61
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis xsd:anyURI {source="GARD:0006968"}

[Term]
id: MONDO:0009562
name: beta-mannosidosis
def: "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." [Orphanet:118]
subset: ordo_disease {source="Orphanet:118"}
synonym: "Beta-D-mannosidosis" EXACT [DOID:3633]
synonym: "Beta-mannosidase deficiency" EXACT [OMIM:248510, Orphanet:118]
synonym: "beta-mannosidase deficiency" EXACT [DOID:3633]
synonym: "beta-mannosidosis" EXACT [OMIM:248510]
synonym: "lysosomal Beta-mannosidase deficiency" RELATED [OMIM:248510]
synonym: "lysosomal beta-mannosidase deficiency" EXACT [DOID:3633]
synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510]
synonym: "mannosidosis, BETA A, lysosomal; MANSB" RELATED [OMIM:248510]
synonym: "MANSB" RELATED [MONDO:Lexical, OMIM:248510]
xref: DOID:3633 {source="MONDO:equivalentTo"}
xref: GARD:0000869 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.1 {source="Orphanet:118", source="ORDO:118/inclusion", source="ORDO:118/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D044905 {source="ORDO:118/e", source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633"}
xref: NCIT:C84596 {source="MONDO:equivalentTo", source="DOID:3633", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:248510 {source="ORDO:118/e", source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633"}
xref: Orphanet:118 {source="OMIM:248510", source="MONDO:equivalentTo"}
xref: SCTID:238047006 {source="MONDO:equivalentTo", source="DOID:3633", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4048196 {source="MONDO:equivalentTo", source="DOID:3633"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016133 {source="Orphanet:118"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016326 {source="Orphanet:118"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0019251 {source="Orphanet:118"} ! oligosaccharidosis
is_a: MONDO:0019706 {source="Orphanet:118"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931893
property_value: exactMatch DOID:3633
property_value: exactMatch http://identifiers.org/mesh/D044905
property_value: exactMatch http://identifiers.org/omim/248510
property_value: exactMatch http://identifiers.org/snomedct/238047006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048196
property_value: exactMatch NCIT:C84596
property_value: exactMatch Orphanet:118

[Term]
id: MONDO:0009563
name: maple syrup urine disease
def: "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." [NCIT:P378]
comment: Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct
subset: ordo_disease {source="Orphanet:511"}
subset: prototype_pattern
synonym: "BCKD deficiency" EXACT [Orphanet:511]
synonym: "BCKDH deficiency" EXACT [Orphanet:511]
synonym: "branched chain ketoaciduria" EXACT [CSP2005:1849-1063, DOID:9269]
synonym: "branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:511]
synonym: "branched-chain Alpha-Keto acid dehydrogenase deficiency" RELATED [OMIM:248600]
synonym: "branched-chain ketoaciduria" EXACT [OMIM:248600, Orphanet:511]
synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [DOID:9269, OMIM:246900]
synonym: "Keto acid decarboxylase deficiency" RELATED [OMIM:248600]
synonym: "Ketoacidaemia" EXACT [DOID:9269]
synonym: "maple syrup urine disease" EXACT [MONDO:Lexical, OMIM:248600]
synonym: "maple syrup urine disease, classic" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, Intermediate" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, intermittent" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, thiamine-responsive" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, type 1A" NARROW [OMIM:248600]
synonym: "maple syrup urine disease, type 1B" NARROW [OMIM:248600]
synonym: "maple syrup urine disease, type 2" NARROW [OMIM:248600]
synonym: "maple syrup urine disease; MSUD" RELATED [OMIM:248600]
synonym: "MSUD" EXACT [MONDO:Lexical, OMIM:248600, Orphanet:511]
xref: DOID:9269 {source="MONDO:equivalentTo"}
xref: GARD:0003228 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="ORDO:511/specific", source="DOID:9269", source="ORDO:511/e"}
xref: MedDRA:10026817 {source="Orphanet:511", source="ORDO:511/e"}
xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="DOID:9269", source="ORDO:511/e"}
xref: NCIT:C34806 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9269"}
xref: OMIM:248600 {source="Orphanet:511", source="MONDO:equivalentTo", source="DOID:9269", source="ORDO:511/e"}
xref: OMIMPS:248600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:511 {source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269"}
xref: SCTID:27718001 {source="MONDO:kboom-pr-0.76/0.50/0.10", source="MONDO:equivalentTo", source="DOID:9269"}
xref: UMLS:C0024776 {source="Orphanet:511", source="NCIT:C34806", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269", source="ORDO:511/e"}
is_a: MONDO:0019242 {source="Orphanet:511", source="linkedlifedata"} ! inborn disorder of branched-chain amino acid metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751285
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855369
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855371
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930990
property_value: exactMatch DOID:9269
property_value: exactMatch http://identifiers.org/meddra/10026817
property_value: exactMatch http://identifiers.org/mesh/D008375
property_value: exactMatch http://identifiers.org/omim/248600
property_value: exactMatch http://identifiers.org/snomedct/27718001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268576
property_value: exactMatch NCIT:C34806
property_value: exactMatch Orphanet:511

[Term]
id: MONDO:0009564
name: Marden-Walker syndrome
def: "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." [Orphanet:2461]
subset: ordo_malformation_syndrome {source="Orphanet:2461"}
synonym: "connective tissue disorder Marden Walker type" RELATED [GARD:0006973]
synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700]
synonym: "MARDEN-WALKER syndrome; MWKS" RELATED [OMIM:248700]
synonym: "MWKS" RELATED [MONDO:Lexical, OMIM:248700]
synonym: "Mws" RELATED [OMIM:248700]
xref: GARD:0006973 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2461/attributed", source="ORDO:2461/ntbt", source="Orphanet:2461"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535910 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2461", source="ORDO:2461/e"}
xref: OMIM:248700 {source="MONDO:equivalentTo", source="Orphanet:2461", source="ORDO:2461/e"}
xref: Orphanet:2461 {source="MONDO:equivalentTo", source="OMIM:248700"}
xref: SCTID:449824004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2461", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0015159 {source="Orphanet:2461"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015168 {source="Orphanet:2461"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015501 {source="Orphanet:2461"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C535910
property_value: exactMatch http://identifiers.org/omim/248700
property_value: exactMatch http://identifiers.org/snomedct/449824004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796033
property_value: exactMatch Orphanet:2461

[Term]
id: MONDO:0009565
name: microcephaly-glomerulonephritis-marfanoid habitus syndrome
def: "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." [Orphanet:2172]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2172"}
synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760]
synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615]
xref: GARD:0003615 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2172/attributed", source="ORDO:2172/ntbt", source="Orphanet:2172"}
xref: MESH:C565411 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248760 {source="MONDO:equivalentTo", source="ORDO:2172/e", source="Orphanet:2172"}
xref: Orphanet:2172 {source="OMIM:248760", source="MONDO:equivalentTo", source="GARD:0003615"}
xref: UMLS:C1855348 {source="OMIM:248760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003615", source="Orphanet:2172"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2172", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2172"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565411
property_value: exactMatch http://identifiers.org/omim/248760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855348
property_value: exactMatch Orphanet:2172
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus xsd:anyURI {source="GARD:0003615"}

[Term]
id: MONDO:0009566
name: marfanoid habitus-autosomal recessive intellectual disability syndrome
def: "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." [Orphanet:2463]
subset: ordo_malformation_syndrome {source="Orphanet:2463"}
synonym: "Marfanoid mental retardation syndrome autosomal" RELATED [GARD:0003388]
synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED [OMIM:248770]
xref: GARD:0003388 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2463", source="ORDO:2463/attributed", source="ORDO:2463/ntbt"}
xref: MESH:C565410 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248770 {source="Orphanet:2463", source="ORDO:2463/e", source="MONDO:equivalentTo"}
xref: Orphanet:2463 {source="OMIM:248770", source="MONDO:equivalentTo"}
xref: UMLS:C1855347 {source="OMIM:248770", source="Orphanet:2463", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2463", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2463"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565410
property_value: exactMatch http://identifiers.org/omim/248770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855347
property_value: exactMatch Orphanet:2463

[Term]
id: MONDO:0009567
name: Marinesco-Sjogren syndrome
def: "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." [Orphanet:559]
subset: ordo_disease {source="Orphanet:559"}
synonym: "Garland-Moorhouse syndrome" EXACT [DOID:0080195]
synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [DOID:0080195]
synonym: "Marinesco-Garland syndrome" EXACT [DOID:0080195]
synonym: "Marinesco-Sjogren syndrome" EXACT [MONDO:Lexical, OMIM:248800]
synonym: "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism" RELATED [GARD:0008341]
synonym: "Marinesco-Sjogren syndrome-myopathy" RELATED [GARD:0008341]
synonym: "Marinesco-Sjogren syndrome; MSS" RELATED [OMIM:248800]
synonym: "Marinesco-Sjogren-Garland syndrome" RELATED [GARD:0008341]
synonym: "Marinesco-Sjögren syndrome" RELATED [Orphanet:559]
synonym: "MSS" BROAD [MONDO:Lexical, OMIM:248800]
synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195]
xref: DOID:0080195 {source="MONDO:equivalentTo"}
xref: GARD:0008341 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:559", source="ORDO:559/attributed", source="ORDO:559/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:248800 {source="DOID:0080195", source="ORDO:559/e", source="Orphanet:559", source="MONDO:equivalentTo"}
xref: Orphanet:559 {source="MONDO:equivalentTo", source="OMIM:248800"}
xref: SCTID:80734006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024814 {source="MEDGEN:kboom-pr98-c99", source="ORDO:559/e", source="Orphanet:559", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248800"}
is_a: MONDO:0000941 ! eyelid degenerative disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:559"} ! syndromic developmental defect of the eye
is_a: MONDO:0016136 {source="Orphanet:559"} ! cerebellar ataxia with peripheral neuropathy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0020165 {source="Orphanet:559"} ! syndromic epicanthus
is_a: MONDO:0020229 {source="Orphanet:559"} ! cerebral disease with cataract
property_value: exactMatch DOID:0080195
property_value: exactMatch http://identifiers.org/omim/248800
property_value: exactMatch http://identifiers.org/snomedct/80734006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024814
property_value: exactMatch Orphanet:559

[Term]
id: MONDO:0009568
name: mast syndrome
def: "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." [Orphanet:101001]
subset: ordo_disease {source="Orphanet:101001"}
synonym: "autosomal recessive spastic paraplegia 21" EXACT [DOID:0060245]
synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245]
synonym: "hereditary spastic paraplegia 21" EXACT [DOID:0060245]
synonym: "Mast syndrome" EXACT [Orphanet:101001]
synonym: "mast syndrome" EXACT [OMIM:248900]
synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900]
synonym: "SPG21" EXACT [DOID:0060245, Orphanet:101001]
xref: DOID:0060245 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:101001", source="DOID:0060245", source="ORDO:101001/attributed", source="ORDO:101001/ntbt"}
xref: MESH:C565409 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:248900 {source="Orphanet:101001", source="ORDO:101001/e", source="DOID:0060245", source="MONDO:equivalentTo"}
xref: Orphanet:101001 {source="DOID:0060245", source="MONDO:equivalentTo", source="OMIM:248900"}
xref: SCTID:764734003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855346 {source="Orphanet:101001", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248900"}
is_a: MONDO:0017915 {source="Orphanet:101001"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0060245
property_value: exactMatch http://identifiers.org/mesh/C565409
property_value: exactMatch http://identifiers.org/omim/248900
property_value: exactMatch http://identifiers.org/snomedct/764734003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855346
property_value: exactMatch Orphanet:101001

[Term]
id: MONDO:0009569
name: Hennekam-Beemer syndrome
def: "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." [Orphanet:2135]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2135"}
synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [OMIM:248910]
synonym: "Hennekam Beemer syndrome" RELATED [GARD:0003409]
synonym: "mastocytosis cutaneous with short stature conductive hearing loss and microtia" RELATED [GARD:0003409]
synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135]
synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" RELATED [GARD:0003409]
xref: GARD:0003409 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="ORDO:2135/attributed", source="ORDO:2135/ntbt"}
xref: MESH:C536033 {source="MONDO:equivalentTo"}
xref: OMIM:248910 {source="Orphanet:2135", source="ORDO:2135/e", source="MONDO:equivalentTo", source="GARD:0003409"}
xref: Orphanet:2135 {source="MONDO:equivalentTo", source="OMIM:248910", source="GARD:0003409"}
xref: SCTID:722453009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:CN201032 {source="MONDO:equivalentTo"}
is_a: MONDO:0043007 {source="Orphanet:2135"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855345
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151493
property_value: exactMatch http://identifiers.org/mesh/C536033
property_value: exactMatch http://identifiers.org/omim/248910
property_value: exactMatch http://identifiers.org/snomedct/722453009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201032
property_value: exactMatch Orphanet:2135
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia xsd:anyURI {source="GARD:0003409"}

[Term]
id: MONDO:0009570
name: McDonough syndrome
def: ", cryptorchidism, and a congenital heart defect. Two families have been reported. Autosomal recessive inheritance was suggested." [Orphanet:2471]
subset: gard_rare {source="GARD:0003424"}
subset: ordo_malformation_syndrome {source="Orphanet:2471"}
synonym: "McDonough syndrome" EXACT [OMIM:248950]
synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED [GARD:0003424]
xref: GARD:0003424 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2471/attributed", source="ORDO:2471/ntbt", source="Orphanet:2471"}
xref: MESH:C538158 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2471/e", source="Orphanet:2471"}
xref: OMIM:248950 {source="MONDO:equivalentTo", source="ORDO:2471/e", source="Orphanet:2471"}
xref: Orphanet:2471 {source="OMIM:248950", source="MONDO:equivalentTo"}
xref: SCTID:715441004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
xref: UMLS:C0796038 {source="OMIM:248950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2471/e", source="Orphanet:2471"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2471", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2471"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538158
property_value: exactMatch http://identifiers.org/omim/248950
property_value: exactMatch http://identifiers.org/snomedct/715441004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796038
property_value: exactMatch Orphanet:2471
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome xsd:anyURI {source="GARD:0003424"}

[Term]
id: MONDO:0009571
name: Meckel syndrome, type 1
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Dysencephalia splachnocystica" RELATED [MESH:C536133]
synonym: "Dysencephalia Splanchnocystica" RELATED [MESH:C536133, OMIM:249000]
synonym: "Gruber syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel Gruber syndrome" RELATED [MESH:C536133]
synonym: "Meckel syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel syndrome 1" RELATED [DOID:0070115]
synonym: "Meckel syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type1" RELATED [MESH:C536133]
synonym: "Meckel syndrome, type 1" EXACT [MESH:C536133, MONDO:Lexical, OMIM:249000]
synonym: "Meckel syndrome, type 1; MKS1" RELATED [OMIM:249000]
synonym: "Meckel-Gruber syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel-Gruber syndrome, type 1" EXACT [DOID:0070115, MESH:C536133, OMIM:249000]
synonym: "Mes" RELATED [MESH:C536133, OMIM:249000]
synonym: "MKS" RELATED [MESH:C536133]
synonym: "MKS1" EXACT [DOID:0070115, MESH:C536133, MONDO:Lexical, OMIM:249000]
synonym: "MKS1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070115 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070115"}
xref: MESH:C536133 {source="MONDO:equivalentTo"}
xref: OMIM:249000 {source="DOID:0070115", source="MONDO:equivalentTo"}
xref: UMLS:C3714506 {source="OMIM:249000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DC-OMIM:249000", source="DOID:0070115", source="MONDO:Redundant", source="OMIM:249000"} ! Meckel syndrome
property_value: exactMatch DOID:0070115
property_value: exactMatch http://identifiers.org/mesh/C536133
property_value: exactMatch http://identifiers.org/omim/249000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714506

[Term]
id: MONDO:0009572
name: autosomal recessive familial Mediterranean fever
def: "Autosomal recessive form of familial Mediterranean fever." [MONDO:patterns/autosomal_recessive]
synonym: "familial Mediterranean fever" RELATED [MONDO:Lexical, OMIM:249100]
synonym: "familial Mediterranean fever, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:249100]
synonym: "familial MEDITERRANEAN FEVER; FMF" RELATED [OMIM:249100]
synonym: "FMF" RELATED [MONDO:Lexical, OMIM:249100]
synonym: "polyserositis, familial paroxysmal" RELATED [OMIM:249100]
synonym: "polyserositis, recurrent" RELATED [OMIM:249100]
xref: OMIM:249100 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018088 {source="DC-OMIM:249100", source="MONDO:Entailed", source="MONDO:Redundant"} ! familial Mediterranean fever
property_value: exactMatch http://identifiers.org/omim/249100

[Term]
id: MONDO:0009573
name: megaepiphyseal dwarfism
subset: gard_rare {source="GARD:0003444"}
synonym: "megaepiphyseal dwarfism" EXACT [OMIM:249230]
xref: GARD:0003444 {source="MONDO:equivalentTo"}
xref: OMIM:249230 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855310
property_value: exactMatch http://identifiers.org/omim/249230
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism xsd:anyURI {source="GARD:0003444"}

[Term]
id: MONDO:0009574
name: megalencephaly with dysmyelination
synonym: "megalencephaly with diffuse white matter hypodensity" RELATED [OMIM:249240]
synonym: "megalencephaly with dysmyelination" EXACT [OMIM:249240]
xref: MESH:C565408 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249240 {source="MONDO:equivalentTo"}
xref: UMLS:C1855309 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:249240"}
is_a: MONDO:0003847 {source="MESH:C565408/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565408
property_value: exactMatch http://identifiers.org/omim/249240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855309

[Term]
id: MONDO:0009575
name: thiamine-responsive megaloblastic anemia syndrome
def: "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." [Orphanet:49827]
subset: gard_rare {source="GARD:0009210"}
subset: ordo_disease {source="Orphanet:49827"}
synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210]
synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [OMIM:249270]
synonym: "Rogers syndrome" EXACT [DOID:0090117, Orphanet:49827]
synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117]
synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [DOID:0090117]
synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [OMIM:249270]
synonym: "thiamine responsive megaloblastic anemia syndrome" RELATED [GARD:0009210]
synonym: "thiamine-responsive Anemia syndrome" RELATED [OMIM:249270]
synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117]
synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [MONDO:Lexical, OMIM:249270]
synonym: "thiamine-responsive megaloblastic anemia syndrome; TRMA" RELATED [OMIM:249270]
synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [DOID:0090117, Orphanet:49827]
synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270]
synonym: "THMD1" EXACT [DOID:0090117]
synonym: "TRMA" EXACT [DOID:0090117, MONDO:Lexical, OMIM:249270, Orphanet:49827]
xref: DOID:0090117 {source="MONDO:equivalentTo"}
xref: GARD:0009210 {source="MONDO:equivalentTo"}
xref: GARD:9210 {source="DOID:0090117"}
xref: ICD10:Q21.0 {source="ORDO:49827/e", source="Orphanet:49827", source="DOID:0090117", source="ORDO:49827/index"}
xref: MESH:C536510 {source="ORDO:49827/e", source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="MONDO:ontobio"}
xref: OMIM:249270 {source="ORDO:49827/e", source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117"}
xref: Orphanet:49827 {source="MONDO:equivalentTo", source="OMIM:249270"}
xref: SCTID:237617006 {source="MONDO:kboom-pr-1.00/0.78/6.63", source="MONDO:equivalentTo"}
is_a: MONDO:0000152 {source="DC-OMIM:249270", source="OMIM:249270"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015888 {source="Orphanet:49827"} ! other rare diabetes mellitus
is_a: MONDO:0019589 {source="Orphanet:49827"} ! syndromic genetic deafness
is_a: MONDO:0020112 {source="Orphanet:49827"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia
property_value: closeMatch Orphanet:498277
property_value: exactMatch DOID:0090117
property_value: exactMatch http://identifiers.org/mesh/C536510
property_value: exactMatch http://identifiers.org/omim/249270
property_value: exactMatch http://identifiers.org/snomedct/237617006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342287
property_value: exactMatch Orphanet:49827
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome xsd:anyURI {source="GARD:0009210"}

[Term]
id: MONDO:0009576
name: megalocornea (disease)
synonym: "anterior megalophthalmos" EXACT [DOID:0060305]
synonym: "congenital anterior megalophthalmia" EXACT EXCLUDE [DOID:0060305]
synonym: "megalocornea" EXACT [MONDO:ambiguous]
xref: DOID:0060305 {source="MONDO:equivalentTo"}
xref: HP:0000485 {source="MONDO:otherHierarchy", source="ontobio"}
xref: HP:0007660 {source="MONDO:otherHierarchy", source="DOID:0060305"}
xref: MESH:C562829 {source="MONDO:equivalentTo", source="DOID:0060305", source="MONDO:ontobio"}
xref: OMIM:249300 {source="MONDO:equivalentTo", source="DOID:0060305"}
xref: SCTID:268158009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060305"}
is_a: MONDO:0000942 {source="DOID:0060305", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
is_a: MONDO:0003847 {source="MESH:C562829/inferred", source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://identifiers.org/snomedct/204118005
property_value: closeMatch http://identifiers.org/snomedct/204119002
property_value: closeMatch http://identifiers.org/snomedct/388840007
property_value: closeMatch http://identifiers.org/snomedct/39978004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344530
property_value: exactMatch DOID:0060305
property_value: exactMatch http://identifiers.org/mesh/C562829
property_value: exactMatch http://identifiers.org/omim/249300
property_value: exactMatch http://identifiers.org/snomedct/268158009

[Term]
id: MONDO:0009577
name: megalocornea-intellectual disability syndrome
def: "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." [Orphanet:2479]
subset: gard_rare {source="GARD:0003448"}
subset: ordo_malformation_syndrome {source="Orphanet:2479"}
synonym: "megalocornea mental retardation syndrome" RELATED [GARD:0003448]
synonym: "megalocornea-mental retardation syndrome" RELATED [OMIM:249310]
synonym: "MMR syndrome" EXACT [OMIM:249310, Orphanet:2479]
synonym: "Neuhauser syndrome" RELATED [OMIM:249310]
synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479]
synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479]
xref: GARD:0003448 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2479/attributed", source="ORDO:2479/ntbt", source="Orphanet:2479"}
xref: MESH:C536143 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249310 {source="ORDO:2479/e", source="MONDO:equivalentTo", source="Orphanet:2479"}
xref: Orphanet:2479 {source="OMIM:249310", source="MONDO:equivalentTo"}
xref: SCTID:733522005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796086 {source="OMIM:249310", source="ORDO:2479/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2479", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:2479"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:2479"} ! syndromic developmental defect of the eye
is_a: MONDO:0020222 {source="Orphanet:2479"} ! rare disease with glaucoma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536143
property_value: exactMatch http://identifiers.org/omim/249310
property_value: exactMatch http://identifiers.org/snomedct/733522005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796086
property_value: exactMatch Orphanet:2479
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome xsd:anyURI {source="GARD:0003448"}

[Term]
id: MONDO:0009578
name: neurocutaneous melanocytosis
def: "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." [Orphanet:2481]
subset: ordo_disease {source="Orphanet:2481"}
synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical, OMIM:249400]
synonym: "melanosis, neurocutaneous; NCMS" RELATED [OMIM:249400]
synonym: "NCM" EXACT [Orphanet:2481]
synonym: "NCMS" RELATED [MONDO:Lexical, OMIM:249400]
synonym: "neurocutaneous melanosis" EXACT [Orphanet:2481]
synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186]
synonym: "Neuromelanosis" RELATED [OMIM:249400]
xref: GARD:0007186 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D22.3 {source="Orphanet:2481", source="ORDO:2481/btnt"}
xref: ICD10:D22.4 {source="Orphanet:2481", source="ORDO:2481/btnt"}
xref: ICD10:D22.5 {source="Orphanet:2481", source="ORDO:2481/btnt"}
xref: ICD10:D22.6 {source="Orphanet:2481", source="ORDO:2481/btnt"}
xref: ICD10:D22.7 {source="Orphanet:2481", source="ORDO:2481/btnt"}
xref: MESH:C537387 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2481", source="ORDO:2481/e"}
xref: OMIM:249400 {source="MONDO:equivalentTo", source="Orphanet:2481", source="ORDO:2481/e"}
xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0005073 {source="Orphanet:2481"} ! melanocytic nevus
is_a: MONDO:0016756 {source="Orphanet:2481"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0042983 {source="MESH:C537387", source="MONDO:cjm"} ! neurocutaneous syndrome
property_value: exactMatch http://identifiers.org/mesh/C537387
property_value: exactMatch http://identifiers.org/omim/249400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0544862
property_value: exactMatch Orphanet:2481

[Term]
id: MONDO:0009579
name: Frank-Ter Haar syndrome
def: "Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." [Orphanet:137834]
subset: gard_rare
subset: ordo_disease {source="Orphanet:137834"}
synonym: "autosomal recessive Melnick-Needles syndrome (formerly)" RELATED [GARD:0005138]
synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [OMIM:249420]
synonym: "Frank Ter Haar syndrome" RELATED [GARD:0005138]
synonym: "Frank-Ter Haar syndrome" EXACT [MONDO:Lexical, OMIM:249420]
synonym: "FRANK-TER Haar syndrome; FTHS" RELATED [OMIM:249420]
synonym: "FTHS" RELATED [MONDO:Lexical, OMIM:249420]
synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" RELATED [GARD:0005138]
synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [OMIM:249420]
synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM:249420]
synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834]
xref: GARD:0005138 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:137834/attributed", source="ORDO:137834/ntbt", source="Orphanet:137834"}
xref: MESH:C537274 {source="MONDO:equivalentTo"}
xref: OMIM:249420 {source="GARD:0005138", source="ORDO:137834/e", source="MONDO:equivalentTo", source="Orphanet:137834"}
xref: Orphanet:137834 {source="GARD:0005138", source="OMIM:249420", source="MONDO:equivalentTo"}
xref: SCTID:720958002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1855305 {source="GARD:0005138", source="MEDGEN:kboom-pr97-c99", source="OMIM:249420", source="ORDO:137834/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137834"}
is_a: MONDO:0018233 {source="Orphanet:137834"} ! otopalatodigital syndrome spectrum disorder
property_value: closeMatch http://identifiers.org/omim/211170
property_value: exactMatch http://identifiers.org/mesh/C537274
property_value: exactMatch http://identifiers.org/omim/249420
property_value: exactMatch http://identifiers.org/snomedct/720958002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855305
property_value: exactMatch Orphanet:137834
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome xsd:anyURI {source="GARD:0005138"}

[Term]
id: MONDO:0009580
name: intellectual disability, autosomal recessive 1
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:249500]
synonym: "mental retardation, autosomal recessive 1; MRT1" RELATED [OMIM:249500]
synonym: "mental retardation, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500]
synonym: "MRT1" RELATED [MONDO:Lexical, OMIM:249500]
synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565406 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249500 {source="MONDO:equivalentTo"}
xref: UMLS:C1855304 {source="OMIM:249500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:249500", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565406
property_value: exactMatch http://identifiers.org/omim/249500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855304

[Term]
id: MONDO:0009581
name: intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
def: "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." [Orphanet:3044]
subset: gard_rare {source="GARD:0009811"}
subset: ordo_malformation_syndrome {source="Orphanet:3044"}
synonym: "Belgian type mental retardation syndrome" RELATED [GARD:0009811]
synonym: "mental retardation syndrome, Belgian type" RELATED [OMIM:249599]
xref: GARD:0009811 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3044/attributed", source="ORDO:3044/ntbt", source="Orphanet:3044"}
xref: MESH:C537447 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249599 {source="MONDO:equivalentTo", source="Orphanet:3044", source="ORDO:3044/e"}
xref: Orphanet:3044 {source="OMIM:249599", source="MONDO:equivalentTo"}
xref: SCTID:722454003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.48"}
xref: UMLS:C1855303 {source="OMIM:249599", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3044"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3044", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537447
property_value: exactMatch http://identifiers.org/omim/249599
property_value: exactMatch http://identifiers.org/snomedct/722454003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855303
property_value: exactMatch Orphanet:3044
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome xsd:anyURI {source="GARD:0009811"}

[Term]
id: MONDO:0009582
name: Mietens syndrome
def: "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." [Orphanet:2557]
subset: ordo_malformation_syndrome {source="Orphanet:2557"}
synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation" RELATED [GARD:0003524]
synonym: "intellectual disability, Mietens-Weber type" EXACT [Orphanet:2557]
synonym: "mental retardation syndrome, Mietens Weber type" RELATED [GARD:0003524]
synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED [OMIM:249600]
synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600]
xref: GARD:0003524 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2557/attributed", source="ORDO:2557/ntbt", source="Orphanet:2557"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537444 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="ORDO:2557/e"}
xref: Orphanet:2557 {source="MONDO:equivalentTo", source="OMIM:249600"}
xref: SCTID:40291001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2557", source="OMIM:249600", source="ORDO:2557/e"}
is_a: MONDO:0020215 {source="Orphanet:2557"} ! syndromic corneal dystrophy
is_a: MONDO:0043007 {source="Orphanet:2557"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C537444
property_value: exactMatch http://identifiers.org/omim/249600
property_value: exactMatch http://identifiers.org/snomedct/40291001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265249
property_value: exactMatch Orphanet:2557

[Term]
id: MONDO:0009583
name: blepharophimosis - intellectual disability syndrome, Ohdo type
def: "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [Orphanet:2728]
subset: ordo_malformation_syndrome {source="Orphanet:2728"}
synonym: "blepharophimosis syndrome, Ohdo type" EXACT [Orphanet:2728]
synonym: "BMRS, Ohdo type" EXACT [Orphanet:2728]
synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED [OMIM:249620]
synonym: "Ohdo blepharophimosis syndrome" RELATED [OMIM:249620]
synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728]
synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728]
xref: ICD9:374.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:525.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:249620 {source="MONDO:equivalentTo", source="Orphanet:2728", source="ORDO:2728/e"}
xref: Orphanet:2728 {source="OMIM:249620", source="MONDO:equivalentTo"}
xref: SCTID:412787009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.09"}
xref: UMLS:C0796094 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="OMIM:249620", source="MONDO:equivalentTo", source="Orphanet:2728", source="ORDO:2728/e"}
is_a: MONDO:0000734 {source="DC-OMIM:249620"} ! Ohdo syndrome and variants
property_value: exactMatch http://identifiers.org/omim/249620
property_value: exactMatch http://identifiers.org/snomedct/412787009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796094
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931643
property_value: exactMatch Orphanet:2728

[Term]
id: MONDO:0009584
name: intellectual disability, Buenos-Aires type
def: "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." [Orphanet:3079]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3079"}
synonym: "intellectual deficit Buenos-Aires type" RELATED [GARD:0003485]
synonym: "mental retardation Buenos Aires type" RELATED [GARD:0003485]
synonym: "mental retardation, Buenos Aires type" RELATED [OMIM:249630]
synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079]
xref: GARD:0003485 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3079", source="ORDO:3079/attributed", source="ORDO:3079/ntbt"}
xref: MESH:C563095 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249630 {source="Orphanet:3079", source="ORDO:3079/e", source="MONDO:equivalentTo", source="GARD:0003485"}
xref: Orphanet:3079 {source="OMIM:249630", source="MONDO:equivalentTo", source="GARD:0003485"}
xref: SCTID:725906006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796080 {source="Orphanet:3079", source="OMIM:249630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003485"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3079", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3079"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563095
property_value: exactMatch http://identifiers.org/omim/249630
property_value: exactMatch http://identifiers.org/snomedct/725906006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796080
property_value: exactMatch Orphanet:3079
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type xsd:anyURI {source="GARD:0003485"}

[Term]
id: MONDO:0009585
name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
subset: gard_rare
subset: ordo_disease {source="Orphanet:1035"}
synonym: "3-mercaptopyruvate sulfurtransferase deficiency" EXACT [Orphanet:1035]
synonym: "Ampola syndrome" EXACT [Orphanet:1035]
synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654, Orphanet:1035]
synonym: "disulfiduria, mixed" RELATED [OMIM:249650]
synonym: "MCDU" RELATED [MONDO:Lexical, OMIM:249650]
synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650]
synonym: "mercaptolactate-cysteine disulfiduria; MCDU" RELATED [OMIM:249650]
xref: GARD:0000654 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="Orphanet:1035", source="ORDO:1035/attributed", source="ORDO:1035/ntbt"}
xref: MESH:C563085 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249650 {source="Orphanet:1035", source="ORDO:1035/e", source="MONDO:equivalentTo"}
xref: Orphanet:1035 {source="OMIM:249650", source="MONDO:equivalentTo"}
xref: UMLS:C0796055 {source="OMIM:249650", source="Orphanet:1035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0024237 {source="Orphanet:1035"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C563085
property_value: exactMatch http://identifiers.org/omim/249650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796055
property_value: exactMatch Orphanet:1035

[Term]
id: MONDO:0009586
name: mesangial sclerosis, diffuse renal, with ocular abnormalities
synonym: "mesangial sclerosis, diffuse renal, with ocular abnormalities" EXACT [OMIM:249660]
xref: MESH:C565405 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249660 {source="MONDO:equivalentTo"}
xref: UMLS:C1855282 {source="OMIM:249660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565405
property_value: exactMatch http://identifiers.org/omim/249660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855282

[Term]
id: MONDO:0009587
name: mesoaxial hexadactyly and cardiac malformation
synonym: "mesoaxial hexadactyly and cardiac malformation" EXACT [OMIM:249670]
synonym: "Mexican Cardiomelic dysplasia" RELATED [OMIM:249670]
xref: MESH:C563087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249670 {source="MONDO:equivalentTo"}
xref: UMLS:C0796057 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:249670"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563087
property_value: exactMatch http://identifiers.org/omim/249670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796057

[Term]
id: MONDO:0009588
name: Langer mesomelic dysplasia
def: "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." [Orphanet:2632]
subset: gard_rare {source="GARD:0003553"}
subset: ordo_malformation_syndrome {source="Orphanet:2632"}
synonym: "dyschondrosteosis, homozygous" RELATED [OMIM:249700]
synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, OMIM:249700]
synonym: "Langer mesomelic dysplasia; LMD" RELATED [OMIM:249700]
synonym: "Langer syndrome" EXACT [NCIT:C126876]
synonym: "Langer type mesomelic dysplasia" EXACT [NCIT:C126876]
synonym: "LMD" RELATED [MONDO:Lexical, OMIM:249700]
synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" RELATED [GARD:0003553]
synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700]
synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632]
xref: GARD:0003553 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:2632", source="ORDO:2632/attributed", source="ORDO:2632/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537267 {source="Orphanet:2632", source="ORDO:2632/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126876 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:249700 {source="Orphanet:2632", source="ORDO:2632/e", source="MONDO:equivalentTo"}
xref: Orphanet:2632 {source="MONDO:equivalentTo", source="OMIM:249700"}
xref: SCTID:38494008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0432230 {source="Orphanet:2632", source="NCBI:mim2gene_medline", source="ORDO:2632/e", source="MONDO:equivalentTo", source="OMIM:249700", source="NCIT:C126876"}
is_a: MONDO:0019697 {source="Orphanet:2632"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537267
property_value: exactMatch http://identifiers.org/omim/249700
property_value: exactMatch http://identifiers.org/snomedct/38494008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432230
property_value: exactMatch NCIT:C126876
property_value: exactMatch Orphanet:2632
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia xsd:anyURI {source="GARD:0003553"}

[Term]
id: MONDO:0009589
name: mesomelic dwarfism-cleft palate-camptodactyly syndrome
def: "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:2631]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2631"}
synonym: "mesomelic dwarfism cleft palate camptodactyly" RELATED [GARD:0003552]
synonym: "mesomelic dysplasia, Kozlowski-Reardon type" EXACT [Orphanet:2631]
synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631]
synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710]
synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631]
xref: GARD:0003552 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:2631", source="ORDO:2631/attributed", source="ORDO:2631/ntbt"}
xref: MESH:C565404 {source="MONDO:equivalentTo"}
xref: OMIM:249710 {source="GARD:0003552", source="ORDO:2631/e", source="Orphanet:2631", source="MONDO:equivalentTo"}
xref: Orphanet:2631 {source="GARD:0003552", source="MONDO:equivalentTo", source="OMIM:249710"}
xref: SCTID:715471007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:2631"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019697 {source="Orphanet:2631"} ! mesomelic and rhizo-mesomelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2631"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855273
property_value: exactMatch http://identifiers.org/mesh/C565404
property_value: exactMatch http://identifiers.org/omim/249710
property_value: exactMatch http://identifiers.org/snomedct/715471007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930871
property_value: exactMatch Orphanet:2631
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly xsd:anyURI {source="GARD:0003552"}

[Term]
id: MONDO:0009590
name: metachromatic leukodystrophy due to saposin b deficiency
subset: gard_rare {source="GARD:0010674"}
synonym: "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" RELATED [OMIM:249900]
synonym: "metachromatic leukodystrophy due to saposin b deficiency" EXACT [OMIM:249900]
synonym: "saposin B deficiency" RELATED [OMIM:249900]
xref: GARD:0010674 {source="MONDO:equivalentTo"}
xref: MESH:C562609 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:249900 {source="MONDO:equivalentTo"}
xref: SCTID:68390005 {source="MONDO:kboom-pr-0.71/0.41/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C0268262 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:249900"}
is_a: MONDO:0018868 {source="DC-OMIM:249900", source="MESH:C562609", source="MONDOLEX:0009590"} ! metachromatic leukodystrophy
property_value: exactMatch http://identifiers.org/mesh/C562609
property_value: exactMatch http://identifiers.org/omim/249900
property_value: exactMatch http://identifiers.org/snomedct/68390005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268262
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency xsd:anyURI {source="GARD:0010674"}

[Term]
id: MONDO:0009591
name: metachromatic leukodystrophy, juvenile form
def: "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain , which consists of nerve fibers covered by myelin .Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence , seizures , paralysis , inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." [GARD:0003230]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:309263"}
synonym: "ARSA deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "arylsulfatase A deficiency, juvenile form" EXACT [Orphanet:309263]
synonym: "cerebral sclerosis diffuse metachromatic form" RELATED [GARD:0003230]
synonym: "cerebral sclerosis, diffuse, metachromatic form" RELATED [OMIM:250100]
synonym: "cerebroside sulfatase deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "leukodystrophy metachromatic" RELATED [GARD:0003230]
synonym: "metachromatic leukodystrophy" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, adult" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, juvenile" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, late infantile" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy; MLD" RELATED [OMIM:250100]
synonym: "metachromatic leukoencephalopathy" RELATED [GARD:0003230, OMIM:250100]
synonym: "MLD" RELATED [GARD:0003230]
synonym: "Mld" RELATED [OMIM:250100]
synonym: "MLD, juvenile form" EXACT [Orphanet:309263]
synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100]
synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100]
xref: GARD:0003230 {source="MONDO:equivalentTo"}
xref: GARD:0004545 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:309263", source="ORDO:309263/attributed", source="ORDO:309263/ntbt"}
xref: OMIM:250100 {source="MONDO:equivalentTo", source="GARD:0003230"}
xref: Orphanet:309263 {source="MONDO:equivalentTo"}
xref: SCTID:238031009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.28/0.11"}
is_a: MONDO:0018868 {source="DC-OMIM:250100", source="MONDOLEX:0009591", source="Orphanet:309263"} ! metachromatic leukodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751278
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855255
property_value: closeMatch Orphanet:751
property_value: exactMatch http://identifiers.org/omim/250100
property_value: exactMatch http://identifiers.org/snomedct/238031009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751276
property_value: exactMatch Orphanet:309263

[Term]
id: MONDO:0009592
name: metaphyseal acroscyphodysplasia
def: "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." [Orphanet:1240]
subset: gard_rare {source="GARD:0003519"}
subset: ordo_disease {source="Orphanet:1240"}
synonym: "Bellini Chiumello Rimoldi syndrome" RELATED [GARD:0003519]
synonym: "Bellini syndrome" EXACT [Orphanet:1240]
synonym: "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" RELATED [OMIM:250215]
synonym: "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" EXACT [Orphanet:1240]
synonym: "metaphyseal acroscyphodysplasia" EXACT [OMIM:250215]
synonym: "wedge-Shaped epiphyses of knees" RELATED [OMIM:250215]
synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519]
synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED [GARD:0003519]
xref: GARD:0003519 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.5 {source="ORDO:1240/attributed", source="ORDO:1240/ntbt", source="Orphanet:1240"}
xref: MESH:C537350 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1240", source="ORDO:1240/e"}
xref: OMIM:250215 {source="MONDO:equivalentTo", source="Orphanet:1240", source="ORDO:1240/e"}
xref: Orphanet:1240 {source="OMIM:250215", source="MONDO:equivalentTo"}
xref: UMLS:C1855243 {source="OMIM:250215", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1240", source="ORDO:1240/e"}
is_a: MONDO:0019693 {source="Orphanet:1240"} ! multiple metaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537350
property_value: exactMatch http://identifiers.org/omim/250215
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855243
property_value: exactMatch Orphanet:1240
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia xsd:anyURI {source="GARD:0003519"}

[Term]
id: MONDO:0009593
name: spondylometaphyseal dysplasia, Sedaghatian type
def: "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." [Orphanet:93317]
subset: gard_rare {source="GARD:0004993"}
subset: ordo_malformation_syndrome {source="Orphanet:93317"}
synonym: "lethal metaphyseal dysplasia" RELATED [GARD:0004993]
synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [OMIM:250220]
synonym: "Sedaghatian chondrodysplasia" RELATED [OMIM:250220]
synonym: "SMDS" RELATED [MONDO:Lexical, OMIM:250220]
synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993]
synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT [MONDO:Lexical, OMIM:250220]
synonym: "spondylometaphyseal dysplasia, Sedaghatian type; SMDS" RELATED [OMIM:250220]
xref: GARD:0004993 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:93317/attributed", source="ORDO:93317/ntbt", source="Orphanet:93317"}
xref: MESH:C535798 {source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317", source="MONDO:ontobio"}
xref: OMIM:250220 {source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317"}
xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"}
xref: UMLS:C1855229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317", source="OMIM:250220"}
is_a: MONDO:0016763 {source="DC-OMIM:250220", source="MONDOLEX:0009593"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019694 {source="Orphanet:93317"} ! spondylodysplastic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535798
property_value: exactMatch http://identifiers.org/omim/250220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855229
property_value: exactMatch Orphanet:93317
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type xsd:anyURI {source="GARD:0004993"}

[Term]
id: MONDO:0009594
name: metaphyseal chondrodysplasia, Kaitila type
def: "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." [Orphanet:166038]
subset: ordo_disease {source="Orphanet:166038"}
synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230]
xref: MESH:C565400 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250230 {source="ORDO:166038/e", source="MONDO:equivalentTo", source="Orphanet:166038"}
xref: Orphanet:166038 {source="MONDO:equivalentTo", source="OMIM:250230"}
xref: UMLS:C1855217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166038", source="OMIM:250230"}
is_a: MONDO:0000138 {source="DC-OMIM:250230"} ! metaphyseal chondrodysplasia (disease)
is_a: MONDO:0019693 {source="Orphanet:166038"} ! multiple metaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C565400
property_value: exactMatch http://identifiers.org/omim/250230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855217
property_value: exactMatch Orphanet:166038

[Term]
id: MONDO:0009595
name: cartilage-hair hypoplasia
def: "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." [Orphanet:175]
subset: gard_rare {source="GARD:0006996"}
subset: ordo_disease {source="Orphanet:175"}
synonym: "autosomal recessive metaphyseal chondrodysplasia" EXACT [Orphanet:175]
synonym: "cartilage hair hypoplasia" EXACT [NCIT:C61245]
synonym: "cartilage hair hypoplasia like syndrome" RELATED [GARD:0006996]
synonym: "cartilage-hair hypoplasia" EXACT [MONDO:Lexical, OMIM:250250]
synonym: "cartilage-hair hypoplasia; CHH" RELATED [OMIM:250250]
synonym: "CHH" RELATED [MONDO:Lexical, OMIM:250250]
synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [DOID:14773]
synonym: "metaphyseal chondrodysplasia McKusick type" RELATED [GARD:0006996]
synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphanet:175]
synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250]
xref: DOID:14773 {source="MONDO:equivalentTo"}
xref: GARD:0006996 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:175/attributed", source="ORDO:175/ntbt", source="Orphanet:175"}
xref: MedDRA:10069596 {source="ORDO:175/e", source="Orphanet:175"}
xref: MESH:C535916 {source="MONDO:equivalentTo", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175", source="MONDO:ontobio"}
xref: NCIT:C61245 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46", source="DOID:14773"}
xref: OMIM:250250 {source="MONDO:equivalentTo", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175"}
xref: Orphanet:175 {source="MONDO:equivalentTo", source="OMIM:250250"}
xref: SCTID:7720002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.48", source="DOID:14773"}
xref: UMLS:C0220748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250250", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175", source="NCIT:C61245"}
is_a: MONDO:0006025 {source="DOID:14773", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia
is_a: MONDO:0019287 {source="Orphanet:175"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019693 {source="Orphanet:175"} ! multiple metaphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/234421004
property_value: exactMatch DOID:14773
property_value: exactMatch http://identifiers.org/meddra/10069596
property_value: exactMatch http://identifiers.org/mesh/C535916
property_value: exactMatch http://identifiers.org/omim/250250
property_value: exactMatch http://identifiers.org/snomedct/7720002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220748
property_value: exactMatch NCIT:C61245
property_value: exactMatch Orphanet:175
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia xsd:anyURI {source="GARD:0006996"}

[Term]
id: MONDO:0009596
name: metaphyseal chondrodysplasia, Pena type
synonym: "metaphyseal chondrodysplasia, Pena type" EXACT [OMIM:250300]
xref: MESH:C565399 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250300 {source="MONDO:equivalentTo"}
xref: UMLS:C1855195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250300"}
is_a: MONDO:0000138 {source="DC-OMIM:250300"} ! metaphyseal chondrodysplasia (disease)
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C565399
property_value: exactMatch http://identifiers.org/omim/250300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855195

[Term]
id: MONDO:0009597
name: metaphyseal chondrodysplasia, Spahr type
subset: ordo_disease {source="Orphanet:2501"}
synonym: "MDST" RELATED [MONDO:Lexical, OMIM:250400]
synonym: "metaphyseal chondrodysplasia Spahr type" RELATED [GARD:0003563]
synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400]
synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400]
synonym: "metaphyseal dysplasia, Spahr type; MDST" RELATED [OMIM:250400]
synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563]
xref: GARD:0003563 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.5 {source="ORDO:2501/attributed", source="ORDO:2501/ntbt", source="Orphanet:2501"}
xref: MESH:C537353 {source="ORDO:2501/e", source="MONDO:equivalentTo", source="Orphanet:2501", source="MONDO:ontobio"}
xref: OMIM:250400 {source="ORDO:2501/e", source="MONDO:equivalentTo", source="Orphanet:2501"}
xref: Orphanet:2501 {source="MONDO:equivalentTo", source="OMIM:250400"}
xref: SCTID:254084008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432225 {source="ORDO:2501/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2501", source="OMIM:250400"}
is_a: MONDO:0000138 {source="DC-OMIM:250400", source="linkedlifedata"} ! metaphyseal chondrodysplasia (disease)
is_a: MONDO:0019693 {source="Orphanet:2501"} ! multiple metaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537353
property_value: exactMatch http://identifiers.org/omim/250400
property_value: exactMatch http://identifiers.org/snomedct/254084008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432225
property_value: exactMatch Orphanet:2501

[Term]
id: MONDO:0009598
name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
subset: ordo_disease {source="Orphanet:166035"}
synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [Orphanet:166035]
synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM:250410]
synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410]
synonym: "retinitis pigmentosa with or without skeletal anomalies; RPSKA" RELATED [OMIM:250410]
synonym: "RPSKA" RELATED [OMIM:250410]
xref: MESH:C565398 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250410 {source="Orphanet:166035", source="ORDO:166035/e", source="MONDO:equivalentTo"}
xref: Orphanet:166035 {source="MONDO:equivalentTo", source="OMIM:250410"}
xref: UMLS:C1855188 {source="Orphanet:166035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250410"}
is_a: MONDO:0019693 {source="Orphanet:166035"} ! multiple metaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C565398
property_value: exactMatch http://identifiers.org/omim/250410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855188
property_value: exactMatch Orphanet:166035

[Term]
id: MONDO:0009599
name: metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
def: "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." [Orphanet:2502]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2502"}
synonym: "metaphyseal dysostosis mental retardation conductive deafness" RELATED [GARD:0003566]
synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation" RELATED [GARD:0003566]
synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED [OMIM:250420]
xref: GARD:0003566 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.5 {source="ORDO:2502/attributed", source="ORDO:2502/ntbt", source="Orphanet:2502"}
xref: MESH:C565396 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="ORDO:2502/e"}
xref: Orphanet:2502 {source="GARD:0003566", source="MONDO:equivalentTo", source="OMIM:250420"}
xref: UMLS:C1855175 {source="GARD:0003566", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2502", source="OMIM:250420"}
is_a: MONDO:0000508 {source="Orphanet:2502"} ! syndromic intellectual disability
is_a: MONDO:0019589 {source="Orphanet:2502"} ! syndromic genetic deafness
is_a: MONDO:0019693 {source="Orphanet:2502"} ! multiple metaphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C565396
property_value: exactMatch http://identifiers.org/omim/250420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855175
property_value: exactMatch Orphanet:2502
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness xsd:anyURI {source="GARD:0003566"}

[Term]
id: MONDO:0009600
name: metaphyseal dysplasia, anetoderma, and optic atrophy
synonym: "metaphyseal dysplasia, anetoderma, and optic atrophy" EXACT [OMIM:250450]
xref: MESH:C565395 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250450"}
is_a: MONDO:0003847 {source="MESH:C565395/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565395
property_value: exactMatch http://identifiers.org/omim/250450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855174

[Term]
id: MONDO:0009601
name: metaphyseal dysplasia without hypotrichosis
subset: gard_rare {source="GARD:0010622"}
synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [OMIM:250460]
synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [OMIM:250460]
synonym: "CHHV" RELATED [GARD:0010622]
synonym: "MDWH" RELATED [OMIM:250460]
synonym: "metaphyseal dysplasia without hypotrichosis" EXACT [OMIM:250460]
synonym: "metaphyseal dysplasia without hypotrichosis; MDWH" RELATED [OMIM:250460]
xref: GARD:0010622 {source="MONDO:equivalentTo"}
xref: MESH:C563574 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250460 {source="MONDO:equivalentTo"}
xref: Orphanet:1838 {source="MONDO:obsoleteEquivalent", source="OMIM:250460"}
xref: UMLS:C1834821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250460"}
is_a: MONDO:0009595 ! cartilage-hair hypoplasia
property_value: exactMatch http://identifiers.org/mesh/C563574
property_value: exactMatch http://identifiers.org/omim/250460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834821
property_value: exactMatch Orphanet:1838
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis xsd:anyURI {source="GARD:0010622"}

[Term]
id: MONDO:0009602
name: metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
subset: gard_rare
synonym: "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" EXACT [GARD:0000217, OMIM:250500]
synonym: "Roy Maroteaux Kremp syndrome" RELATED [GARD:0000217]
xref: GARD:0000217 {source="MONDO:equivalentTo"}
xref: MESH:C535875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250500 {source="MONDO:equivalentTo", source="GARD:0000217"}
xref: UMLS:C1855164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000217", source="OMIM:250500"}
is_a: MONDO:0003847 {source="MESH:C535875/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535875
property_value: exactMatch http://identifiers.org/omim/250500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855164

[Term]
id: MONDO:0009603
name: 3-hydroxyisobutyryl-CoA hydrolase deficiency
def: "gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." [Orphanet:88639]
subset: ordo_disease {source="Orphanet:88639"}
synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" RELATED [MONDO:Lexical, OMIM:250620]
synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCHD" RELATED [OMIM:250620]
synonym: "beta-hydroxyisobutyryl Coa deacylase deficiency" RELATED [OMIM:250620]
synonym: "Beta-hydroxyisobutyryl-CoA deacylase deficiency" RELATED [GARD:0013202]
synonym: "HIBCH deficiency" EXACT [OMIM:250620, Orphanet:88639]
synonym: "HIBCHD" RELATED [MONDO:Lexical, OMIM:250620]
synonym: "methacrylic acid toxicity" RELATED [OMIM:250620]
synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639]
synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639]
xref: GARD:0013202 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:88639/attributed", source="ORDO:88639/ntbt", source="Orphanet:88639"}
xref: MESH:C562803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250620 {source="ORDO:88639/e", source="MONDO:equivalentTo", source="Orphanet:88639"}
xref: Orphanet:88639 {source="MONDO:equivalentTo", source="OMIM:250620"}
xref: SCTID:722488009 {source="MONDO:kboom-pr-1.00/0.80/9.70", source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="Orphanet:88639"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019215 {source="Orphanet:88639"} ! classic organic aciduria
is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism
is_a: MONDO:0037870 ! valine metabolism disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342738
property_value: exactMatch http://identifiers.org/mesh/C562803
property_value: exactMatch http://identifiers.org/omim/250620
property_value: exactMatch http://identifiers.org/snomedct/722488009
property_value: exactMatch Orphanet:88639

[Term]
id: MONDO:0009604
name: methemoglobin reductase deficiency
synonym: "methemoglobin reductase deficiency" EXACT [OMIM:250700]
synonym: "NADPH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250700]
synonym: "TPNH-methemoglobin reductase deficiency" RELATED [OMIM:250700]
xref: MESH:C563171 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250700 {source="MONDO:equivalentTo"}
xref: SCTID:234397008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0472786 {source="OMIM:250700", source="MONDO:equivalentTo"}
is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878679
property_value: exactMatch http://identifiers.org/mesh/C563171
property_value: exactMatch http://identifiers.org/omim/250700
property_value: exactMatch http://identifiers.org/snomedct/234397008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472786

[Term]
id: MONDO:0009605
name: methemoglobinemia type 4
def: "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CYB5A methemoglobinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [OMIM:250790]
synonym: "METAG" RELATED [OMIM:250790]
synonym: "methemoglobinemia and ambiguous genitalia" RELATED [OMIM:250790]
synonym: "methemoglobinemia and ambiguous genitalia; METAG" RELATED [OMIM:250790]
synonym: "methemoglobinemia caused by mutation in CYB5A" EXACT [MONDO:design_pattern]
synonym: "methemoglobinemia due to deficiency of cytochrome B5" RELATED [OMIM:250790]
synonym: "methemoglobinemia due to deficiency of cytochrome B5, formerly" RELATED [OMIM:250790]
synonym: "methemoglobinemia type IV" RELATED [OMIM:250790]
synonym: "methemoglobinemia type IV, formerly" RELATED [OMIM:250790]
xref: MESH:C567102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250790 {source="MONDO:equivalentTo"}
xref: UMLS:C2673427 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250790"}
is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia
property_value: exactMatch http://identifiers.org/mesh/C567102
property_value: exactMatch http://identifiers.org/omim/250790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673427

[Term]
id: MONDO:0009606
name: methemoglobinemia due to deficiency of methemoglobin reductase
synonym: "methemoglobinemia due to deficiency of methemoglobin reductase" EXACT [OMIM:250800]
synonym: "methemoglobinemia, congenital, autosomal recessive" RELATED [OMIM:250800]
synonym: "methemoglobinemia, type 1" RELATED [OMIM:250800]
synonym: "methemoglobinemia, type 2" RELATED [OMIM:250800]
synonym: "NADH cytochrome B5 reductase deficiency" RELATED [GARD:0003909]
synonym: "NADH diaphorase deficiency" RELATED [GARD:0003909]
synonym: "NADH methemoglobin reductase deficiency" RELATED [GARD:0003909]
synonym: "NADH-cytochrome B5 reductase deficiency" RELATED [OMIM:250800]
synonym: "NADH-cytochrome B5 reductase deficiency, type 1" RELATED [OMIM:250800]
synonym: "NADH-cytochrome B5 reductase deficiency, type 2" RELATED [OMIM:250800]
synonym: "NADH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250800]
xref: GARD:0003909 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:250800 {source="MONDO:equivalentTo"}
is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749559
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749560
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749561
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749562
property_value: closeMatch Orphanet:139373
property_value: closeMatch Orphanet:139380
property_value: exactMatch http://identifiers.org/omim/250800

[Term]
id: MONDO:0009607
name: methionine adenosyltransferase deficiency
def: "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." [Orphanet:168598]
subset: ordo_disease {source="Orphanet:168598"}
synonym: "brain demyelination due to methionine adenosyltransferase deficiency" EXACT [ClinGen:AminoacidopathyGeneCurationPanel, https://orcid.org/0000-0002-5655-9589]
synonym: "hypermethioninemia, isolated persistent" RELATED [OMIM:250850]
synonym: "isolated persistent hypermethioninemia" EXACT [NCIT:C123435]
synonym: "MAT deficiency" EXACT [Orphanet:168598]
synonym: "MAT I/III deficiency" EXACT [Orphanet:168598]
synonym: "Mat I/III deficiency" RELATED [OMIM:250850]
synonym: "methionine adenosyltransferase deficiency" EXACT [OMIM:250850, Orphanet:168598]
synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850]
xref: GARD:0008397 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="Orphanet:168598", source="ORDO:168598/attributed", source="ORDO:168598/ntbt"}
xref: NCIT:C123435 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.83/1.34"}
xref: OMIM:250850 {source="Orphanet:168598", source="ORDO:168598/e", source="MONDO:equivalentTo"}
xref: Orphanet:168598 {source="MONDO:equivalentTo", source="OMIM:250850"}
is_a: MONDO:0019058 {source="Orphanet:168598"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019222 {source="Orphanet:168598"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268621
property_value: exactMatch http://identifiers.org/omim/250850
property_value: exactMatch NCIT:C123435
property_value: exactMatch Orphanet:168598

[Term]
id: MONDO:0009608
name: methionine malabsorption syndrome
synonym: "methionine malabsorption syndrome" EXACT [OMIM:250900]
synonym: "oasthouse urine disease" RELATED [OMIM:250900]
synonym: "Smith-strang disease" RELATED [OMIM:250900]
xref: MESH:C562682 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250900 {source="MONDO:equivalentTo"}
xref: SCTID:45812003 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="MONDO:equivalentTo"}
xref: UMLS:C0268622 {source="OMIM:250900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562682/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562682
property_value: exactMatch http://identifiers.org/omim/250900
property_value: exactMatch http://identifiers.org/snomedct/45812003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268622

[Term]
id: MONDO:0009609
name: methylcobalamin deficiency type cblG
def: "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia . Methylcobalamin deficiency cbl G type is caused by changes ( mutations ) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12) . Some affected people may also require supplementation with folates and betaine ." [https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type]
subset: gard_rare {source="GARD:0003577"}
subset: ordo_clinical_subtype {source="Orphanet:2170"}
synonym: "cblG" RELATED [GARD:0003577]
synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170]
synonym: "HMAG" RELATED [MONDO:Lexical, OMIM:250940]
synonym: "homocystinuria due to defect in methylation Cbl g" RELATED [GARD:0002733]
synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [OMIM:250940]
synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical, OMIM:250940]
synonym: "homocystinuria-megaloblastic anemia, cblG complementation type; HMAG" RELATED [OMIM:250940]
synonym: "methionine synthase deficiency" RELATED [OMIM:250940]
synonym: "methylcobalamin deficiency Cbl G type" RELATED [GARD:0003577]
synonym: "methylcobalamin deficiency, cblG type" RELATED [OMIM:250940]
synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [DOID:0050733]
xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"}
xref: EFO:0005597 {source="MONDO:equivalentTo"}
xref: GARD:0002733 {source="MONDO:equivalentTo"}
xref: GARD:0003577 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:2170/attributed", source="ORDO:2170/ntbt", source="Orphanet:2170"}
xref: OMIM:250940 {source="MONDO:equivalentTo", source="ORDO:2170/e", source="Orphanet:2170"}
xref: Orphanet:2170 {source="MONDO:equivalentTo", source="OMIM:250940"}
xref: SCTID:721187005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0018964 {source="MONDOLEX:0009609", source="Orphanet:2170", source="linkedlifedata"} ! homocystinuria without methylmalonic aciduria
is_a: MONDO:0019737 {source="Orphanet:2170"} ! thrombotic microangiopathy
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855128
property_value: exactMatch DOID:0050733
property_value: exactMatch http://identifiers.org/omim/250940
property_value: exactMatch http://identifiers.org/snomedct/721187005
property_value: exactMatch Orphanet:2170
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type xsd:anyURI {source="GARD:0003577"}

[Term]
id: MONDO:0009610
name: 3-methylglutaconic aciduria type 1
def: "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." [Orphanet:67046]
subset: ordo_disease {source="Orphanet:67046"}
synonym: "3 alpha methylglutaconic aciduria type I" RELATED [GARD:0010321]
synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321]
synonym: "3 methylglutaconyl CoA hydratase deficiency" RELATED [GARD:0010321]
synonym: "3-methylglutaconic aciduria caused by mutation in AUH" EXACT []
synonym: "3-methylglutaconic aciduria caused by mutation in auh" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type I" EXACT [DOID:0110002]
synonym: "3-Methylglutaconic aciduria, type 1" RELATED [OMIM:250950]
synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical, OMIM:250950]
synonym: "3-METHYLGLUTACONIC aciduria, type I; MGCA1" RELATED [OMIM:250950]
synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046]
synonym: "3-methylglutaconyl-Coa hydratase deficiency" RELATED [OMIM:250950]
synonym: "3-methylglutaconyl-CoA hydratase deficiency (auh defect)" RELATED [GARD:0010321]
synonym: "3-Mg-Coa-hydratase deficiency" RELATED [OMIM:250950]
synonym: "3-MGCA type I (3-MGCA-1)" RELATED [GARD:0010321]
synonym: "3MG CoA hydratase deficiency" RELATED [GARD:0010321]
synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046]
synonym: "AUH 3-methylglutaconic aciduria" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "auh 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern]
synonym: "MGA type I" EXACT [DOID:0110002]
synonym: "Mga, type 1" RELATED [OMIM:250950]
synonym: "MGA1" EXACT [DOID:0110002, Orphanet:67046]
synonym: "MGCA1" RELATED [MONDO:Lexical, OMIM:250950]
xref: DOID:0110002 {source="MONDO:equivalentTo"}
xref: GARD:0010321 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:67046/attributed", source="ORDO:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"}
xref: MESH:C562801 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98683 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:250950 {source="MONDO:equivalentTo", source="ORDO:67046/e", source="DOID:0110002", source="Orphanet:67046"}
xref: Orphanet:67046 {source="MONDO:equivalentTo", source="DOID:0110002", source="OMIM:250950"}
xref: SCTID:237951008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98683", source="ORDO:67046/e", source="Orphanet:67046", source="OMIM:250950"}
xref: UMLS:C0342728 {source="MONDO:equivalentTo", source="ORDO:67046/e", source="Orphanet:67046"}
is_a: MONDO:0017359 {source="DC-OMIM:250950", source="DOID:0110002", source="MONDO:Redundant", source="NCIT:C98683", source="OMIM:250950", source="Orphanet:67046", source="linkedlifedata"} ! 3-methylglutaconic aciduria
property_value: exactMatch DOID:0110002
property_value: exactMatch http://identifiers.org/mesh/C562801
property_value: exactMatch http://identifiers.org/omim/250950
property_value: exactMatch http://identifiers.org/snomedct/237951008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342728
property_value: exactMatch NCIT:C98683
property_value: exactMatch Orphanet:67046

[Term]
id: MONDO:0009611
name: 3-methylglutaconic aciduria type 4
def: "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." [Orphanet:67048]
subset: gard_rare
subset: ordo_disease {source="Orphanet:67048"}
synonym: "3 alpha methylglutaconic aciduria type IV" RELATED [GARD:0010342]
synonym: "3 methylglutaconic aciduria type IV" RELATED [GARD:0010342]
synonym: "3-methylglutaconic aciduria type IV" EXACT [DOID:0110006]
synonym: "3-Methylglutaconic aciduria, type 4" RELATED [OMIM:250951]
synonym: "3-METHYLGLUTACONIC aciduria, type IV" RELATED [MONDO:Lexical, OMIM:250951]
synonym: "3-METHYLGLUTACONIC aciduria, type IV; MGCA4" RELATED [OMIM:250951]
synonym: "MGA type IV" EXACT [DOID:0110006]
synonym: "Mga, type 4" RELATED [OMIM:250951]
synonym: "MGA4" EXACT [DOID:0110006, Orphanet:67048]
synonym: "MGCA4" EXACT [DOID:0110006, MONDO:Lexical, OMIM:250951]
synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342]
xref: DOID:0110006 {source="MONDO:equivalentTo"}
xref: GARD:0010342 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:67048/attributed", source="ORDO:67048/ntbt", source="Orphanet:67048"}
xref: MESH:C565393 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="ORDO:67048/e", source="Orphanet:67048"}
xref: Orphanet:67048 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="OMIM:250951"}
xref: SCTID:297233004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0574085 {source="MONDO:equivalentTo", source="ORDO:67048/e", source="Orphanet:67048"}
xref: UMLS:C1855126 {source="GARD:0010342", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250951", source="Orphanet:67048"}
is_a: MONDO:0017359 {source="DC-OMIM:250951", source="DOID:0110006", source="OMIM:250951", source="Orphanet:67048", source="linkedlifedata"} ! 3-methylglutaconic aciduria
property_value: exactMatch DOID:0110006
property_value: exactMatch http://identifiers.org/mesh/C565393
property_value: exactMatch http://identifiers.org/omim/250951
property_value: exactMatch http://identifiers.org/snomedct/297233004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855126
property_value: exactMatch Orphanet:67048
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type xsd:anyURI {source="GARD:0010342"}

[Term]
id: MONDO:0009612
name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
def: "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms)." [Orphanet:27]
subset: ordo_disease {source="Orphanet:27"}
synonym: "MCM deficiency" RELATED [GARD:0003586]
synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740]
synonym: "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" EXACT [OMIM:251000]
synonym: "methylmalonic aciduria mut type" EXACT [DOID:0060740]
synonym: "methylmalonic aciduria, mut type" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria, mut(-) type" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria, mut(0) type" RELATED [OMIM:251000]
synonym: "methylmalonyl-CoA mutase deficiency" EXACT [Orphanet:27]
synonym: "methylmalonyl-Coenzyme A mutase deficiency" EXACT [Orphanet:27]
synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27]
synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27]
xref: DOID:0060740 {source="MONDO:equivalentTo"}
xref: GARD:0003586 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:27/ntbt", source="DOID:0060740", source="Orphanet:27", source="ORDO:27/inclusion"}
xref: NCIT:C148366 {source="MONDO:equivalentTo"}
xref: OMIM:251000 {source="DOID:0060740", source="MONDO:equivalentTo", source="Orphanet:27", source="ORDO:27/e"}
xref: Orphanet:27 {source="DOID:0060740", source="MONDO:equivalentTo", source="OMIM:251000"}
xref: UMLS:C1855114 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:27", source="OMIM:251000"}
is_a: MONDO:0017390 {source="Orphanet:27"} ! methylmalonic acidemia without homocystinuria
is_a: MONDO:0019743 {source="Orphanet:27"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855115
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855116
property_value: exactMatch DOID:0060740
property_value: exactMatch http://identifiers.org/omim/251000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855114
property_value: exactMatch NCIT:C148366
property_value: exactMatch Orphanet:27

[Term]
id: MONDO:0009613
name: vitamin B12-responsive methylmalonic acidemia type cblA
def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." [NCIT:C142171]
subset: ordo_clinical_subtype {source="Orphanet:79310"}
synonym: "cblA - cobalamin locus a" RELATED []
synonym: "cblA methylmalonic acidemia" RELATED []
synonym: "cblB - cobalamin locus b" RELATED []
synonym: "cblB methylmalonic acidemia" RELATED []
synonym: "cobalamin a disease" EXACT []
synonym: "cobalamin b disease" EXACT []
synonym: "cobalamin locus a variant" RELATED []
synonym: "cobalamin locus b variant" RELATED []
synonym: "methylmalonic acidemia cblA type" RELATED [DOID:0060742, GARD:0005500]
synonym: "methylmalonic acidemia, cblA type" RELATED [OMIM:251100]
synonym: "methylmalonic aciduria cblA type" EXACT [DOID:0060742, GARD:0005500]
synonym: "methylmalonic aciduria, cblA type" RELATED [OMIM:251100]
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [DOID:0060742]
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [DOID:0060742]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type" RELATED [GARD:0005500]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" RELATED [OMIM:251100]
synonym: "MMA Cbl A type" RELATED [GARD:0005500]
synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT [Orphanet:79310]
synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310]
xref: DOID:0060742 {source="MONDO:equivalentTo"}
xref: GARD:0005500 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:79310/attributed", source="ORDO:79310/ntbt", source="DOID:0060742", source="Orphanet:79310"}
xref: NCIT:C142171 {source="MONDO:equivalentTo"}
xref: OMIM:251100 {source="MONDO:equivalentTo", source="DOID:0060742", source="ORDO:79310/e", source="Orphanet:79310"}
xref: Orphanet:79310 {source="MONDO:equivalentTo", source="DOID:0060742", source="OMIM:251100"}
xref: SCTID:73843004 {source="MONDO:equivalentTo"}
xref: SCTID:82245003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342721 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C0342722 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C1855109 {source="MEDGEN:kboom-pr98-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251100"}
is_a: MONDO:0017214 {source="Orphanet:79310", source="linkedlifedata"} ! vitamin B12-responsive methylmalonic acidemia
property_value: exactMatch DOID:0060742
property_value: exactMatch http://identifiers.org/mesh/C537360
property_value: exactMatch http://identifiers.org/omim/251100
property_value: exactMatch http://identifiers.org/snomedct/73843004
property_value: exactMatch http://identifiers.org/snomedct/82245003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855109
property_value: exactMatch NCIT:C142171
property_value: exactMatch Orphanet:79310

[Term]
id: MONDO:0009614
name: vitamin B12-responsive methylmalonic acidemia type cblB
def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." [NCIT:C142172]
subset: ordo_clinical_subtype {source="Orphanet:79311"}
synonym: "methylmalonic acidemia cblB type" RELATED [DOID:0060743, GARD:0009479]
synonym: "methylmalonic acidemia, cblB type" RELATED [OMIM:251110]
synonym: "methylmalonic aciduria cblB type" EXACT [DOID:0060743]
synonym: "methylmalonic aciduria, cblB type" RELATED [OMIM:251110]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [DOID:0060743]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" RELATED [OMIM:251110]
synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT [Orphanet:79311]
synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311]
xref: DOID:0060743 {source="MONDO:equivalentTo"}
xref: GARD:0009479 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:79311/attributed", source="ORDO:79311/ntbt", source="DOID:0060743", source="Orphanet:79311"}
xref: NCIT:C142172 {source="MONDO:equivalentTo"}
xref: OMIM:251110 {source="DOID:0060743", source="MONDO:equivalentTo", source="ORDO:79311/e", source="Orphanet:79311"}
xref: Orphanet:79311 {source="DOID:0060743", source="MONDO:equivalentTo", source="OMIM:251110"}
xref: UMLS:C1855102 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251110"}
is_a: MONDO:0017214 {source="Orphanet:79311"} ! vitamin B12-responsive methylmalonic acidemia
property_value: exactMatch DOID:0060743
property_value: exactMatch http://identifiers.org/mesh/C537361
property_value: exactMatch http://identifiers.org/omim/251110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855102
property_value: exactMatch NCIT:C142172
property_value: exactMatch Orphanet:79311

[Term]
id: MONDO:0009615
name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
def: "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." [Orphanet:308425]
subset: ordo_disease {source="Orphanet:308425"}
synonym: "MCEE deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria III" RELATED [OMIM:251120]
synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120]
synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120]
synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120]
synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120]
xref: ICD10:E71.1 {source="ORDO:308425/attributed", source="ORDO:308425/ntbt", source="Orphanet:308425"}
xref: MESH:C565386 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251120 {source="MONDO:equivalentTo", source="ORDO:308425/e", source="Orphanet:308425"}
xref: Orphanet:308425 {source="MONDO:equivalentTo", source="OMIM:251120"}
xref: SCTID:765137006 {source="MONDO:equivalentTo"}
xref: UMLS:C1855100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251120", source="MEDGEN:kboom-pr92-c96", source="Orphanet:308425"}
is_a: MONDO:0017390 {source="Orphanet:308425"} ! methylmalonic acidemia without homocystinuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855101
property_value: exactMatch http://identifiers.org/mesh/C565386
property_value: exactMatch http://identifiers.org/omim/251120
property_value: exactMatch http://identifiers.org/snomedct/765137006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855100
property_value: exactMatch Orphanet:308425

[Term]
id: MONDO:0009616
name: microcephalic primordial dwarfism, Toriello type
def: "Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." [Orphanet:2643]
subset: gard_rare {source="GARD:0003602"}
subset: ordo_malformation_syndrome {source="Orphanet:2643"}
synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602]
synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602]
synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190]
xref: GARD:0003602 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:2643", source="ORDO:2643/attributed", source="ORDO:2643/ntbt"}
xref: MESH:C537321 {source="Orphanet:2643", source="ORDO:2643/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251190 {source="Orphanet:2643", source="ORDO:2643/e", source="MONDO:equivalentTo"}
xref: Orphanet:2643 {source="OMIM:251190", source="MONDO:equivalentTo"}
xref: SCTID:715482004 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1855089 {source="OMIM:251190", source="Orphanet:2643", source="NCBI:mim2gene_medline", source="ORDO:2643/e", source="MONDO:equivalentTo"}
is_a: MONDO:0017950 {source="DC-OMIM:251190", source="Orphanet:2643"} ! microcephalic primordial dwarfism
property_value: exactMatch http://identifiers.org/mesh/C537321
property_value: exactMatch http://identifiers.org/omim/251190
property_value: exactMatch http://identifiers.org/snomedct/715482004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855089
property_value: exactMatch Orphanet:2643
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type xsd:anyURI {source="GARD:0003602"}

[Term]
id: MONDO:0009617
name: microcephaly 1, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern]
synonym: "MCPH1" RELATED [MONDO:Lexical, OMIM:251200]
synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microcephaly 1, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:251200]
synonym: "microcephaly 1, primary, autosomal recessive; MCPH1" RELATED [OMIM:251200]
synonym: "PCC syndrome" RELATED [OMIM:251200]
synonym: "premature chromosome condensation syndrome" RELATED [OMIM:251200]
synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED [OMIM:251200]
xref: DOID:0070285 {source="MONDO:equivalentTo"}
xref: MESH:C565384 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251200 {source="MONDO:equivalentTo"}
xref: Orphanet:52183 {source="MONDO:obsoleteEquivalent", source="OMIM:251200"}
xref: UMLS:C1855081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251200"}
is_a: MONDO:0016660 {source="DC-OMIM:251200", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070285
property_value: exactMatch http://identifiers.org/mesh/C565384
property_value: exactMatch http://identifiers.org/omim/251200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855081
property_value: exactMatch Orphanet:52183

[Term]
id: MONDO:0009618
name: microcephaly-cardiomyopathy syndrome
def: "Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." [Orphanet:2515]
subset: ordo_malformation_syndrome {source="Orphanet:2515"}
synonym: "microcephaly with cardiomyopathy" RELATED [GARD:0003609]
synonym: "microcephaly-cardiomyopathy" RELATED [OMIM:251220]
synonym: "severe microcephaly and self-limiting dilated cardiomyopathy" RELATED [GARD:0003609]
synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED [GARD:0003609]
synonym: "Winship-Viljoen-Leary syndrome" EXACT [Orphanet:2515]
xref: GARD:0003609 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2515/attributed", source="ORDO:2515/ntbt", source="Orphanet:2515"}
xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="ORDO:2515/e", source="MONDO:ontobio"}
xref: OMIM:251220 {source="MONDO:equivalentTo", source="Orphanet:2515", source="ORDO:2515/e"}
xref: Orphanet:2515 {source="MONDO:equivalentTo", source="OMIM:251220"}
xref: SCTID:719380003 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1855080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251220", source="Orphanet:2515", source="ORDO:2515/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2515", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2515"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016337 {source="Orphanet:2515"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0017119 {source="Orphanet:2515"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536711
property_value: exactMatch http://identifiers.org/mesh/C537324
property_value: exactMatch http://identifiers.org/omim/251220
property_value: exactMatch http://identifiers.org/snomedct/719380003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855080
property_value: exactMatch Orphanet:2515

[Term]
id: MONDO:0009619
name: microcephaly-micromelia syndrome
synonym: "microcephaly-micromelia syndrome" EXACT [OMIM:251230]
synonym: "microcephaly-micromelia syndrome; MIMIS" RELATED [OMIM:251230]
synonym: "MIMIS" RELATED [OMIM:251230]
xref: MESH:C565382 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251230 {source="MONDO:equivalentTo"}
xref: UMLS:C1855079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251230"}
is_a: MONDO:0003847 {source="MESH:C565382/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565382
property_value: exactMatch http://identifiers.org/omim/251230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855079

[Term]
id: MONDO:0009620
name: Say-Barber-Miller syndrome
def: "Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." [Orphanet:3132]
subset: gard_rare {source="GARD:0000239"}
subset: ordo_malformation_syndrome {source="Orphanet:3132"}
synonym: "microcephaly hypogammaglobulinemia abnormal immunity" RELATED [GARD:0000239]
synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [OMIM:251240]
synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132]
synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239]
xref: GARD:0000239 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3132/attributed", source="ORDO:3132/ntbt", source="Orphanet:3132"}
xref: MESH:C536618 {source="MONDO:equivalentTo", source="Orphanet:3132", source="ORDO:3132/e"}
xref: OMIM:251240 {source="MONDO:equivalentTo", source="Orphanet:3132", source="ORDO:3132/e"}
xref: Orphanet:3132 {source="MONDO:equivalentTo", source="OMIM:251240"}
xref: SCTID:721903007 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3132", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3132"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018041 {source="Orphanet:3132"} ! other immunodeficiency syndrome with predominantly antibody defects
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855078
property_value: exactMatch http://identifiers.org/mesh/C536618
property_value: exactMatch http://identifiers.org/omim/251240
property_value: exactMatch http://identifiers.org/snomedct/721903007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931267
property_value: exactMatch Orphanet:3132
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome xsd:anyURI {source="GARD:0000239"}

[Term]
id: MONDO:0009621
name: microcephaly-cervical spine fusion anomalies syndrome
def: "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." [Orphanet:2522]
subset: ordo_malformation_syndrome {source="Orphanet:2522"}
synonym: "microcephaly cervical spine fusion anomalies" RELATED [GARD:0003610]
synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:251250]
synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED [GARD:0003610]
xref: GARD:0003610 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2522", source="ORDO:2522/attributed", source="ORDO:2522/ntbt"}
xref: MESH:C537325 {source="Orphanet:2522", source="ORDO:2522/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251250 {source="Orphanet:2522", source="ORDO:2522/e", source="MONDO:equivalentTo"}
xref: Orphanet:2522 {source="MONDO:equivalentTo", source="OMIM:251250"}
xref: SCTID:715462003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796066 {source="Orphanet:2522", source="NCBI:mim2gene_medline", source="ORDO:2522/e", source="MONDO:equivalentTo", source="OMIM:251250"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2522", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:2522"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537325
property_value: exactMatch http://identifiers.org/omim/251250
property_value: exactMatch http://identifiers.org/snomedct/715462003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796066
property_value: exactMatch Orphanet:2522

[Term]
id: MONDO:0009622
name: Jawad syndrome
def: "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." [Orphanet:313795]
subset: ordo_malformation_syndrome {source="Orphanet:313795"}
synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255]
synonym: "JAWAD syndrome; JWDS" RELATED [OMIM:251255]
synonym: "JWDS" RELATED [MONDO:Lexical, OMIM:251255]
synonym: "Kelly syndrome" RELATED [OMIM:251255]
synonym: "microcephaly with mental retardation and digital anomalies" RELATED [OMIM:251255]
xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="ORDO:313795/e"}
xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"}
xref: UMLS:C0796063 {source="Orphanet:313795", source="MONDO:equivalentTo", source="OMIM:251255"}
is_a: MONDO:0015159 {source="Orphanet:313795"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:313795"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673414
property_value: exactMatch http://identifiers.org/omim/251255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796063
property_value: exactMatch Orphanet:313795

[Term]
id: MONDO:0009623
name: Nijmegen breakage syndrome
def: "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." [Orphanet:647]
subset: gard_rare {source="GARD:0003904"}
subset: ordo_malformation_syndrome {source="Orphanet:647"}
synonym: "AT V1" EXACT [Orphanet:647]
synonym: "ataxia-telangiectasia variant V1" RELATED [OMIM:251260]
synonym: "ataxia-telangiectasia variant V2" RELATED [OMIM:251260]
synonym: "ataxia-telangiectasia, variant 1" EXACT [Orphanet:647]
synonym: "Berlin breakage syndrome" EXACT [DOID:7400, OMIM:251260, Orphanet:647]
synonym: "immunodeficiency, microcephaly, and chromosomal instability" RELATED [OMIM:251260]
synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [Orphanet:647]
synonym: "microcephaly immunodeficiency lymphoreticuloma" RELATED [GARD:0003904]
synonym: "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies" RELATED [GARD:0003904]
synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" RELATED [OMIM:251260]
synonym: "microcephaly, normal intelligence and immunodeficiency" EXACT [DOID:7400]
synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [Orphanet:647]
synonym: "NBs" EXACT [Orphanet:647]
synonym: "Nijmegen breakage syndrome" EXACT [OMIM:251260]
synonym: "Nijmegen breakage syndrome; NBs" RELATED [OMIM:251260]
synonym: "Nonsyndromal microcephaly autosomal recessive with normal intelligence" RELATED [GARD:0003904]
synonym: "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" RELATED [OMIM:251260]
synonym: "Seemanova syndrome" EXACT [CSP2005:5005-0018, DOID:7400]
synonym: "Seemanova syndrome 2" RELATED [OMIM:251260]
synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647]
xref: DOID:7400 {source="MONDO:equivalentTo"}
xref: GARD:0003904 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:647", source="ORDO:647/attributed", source="ORDO:647/ntbt"}
xref: MedDRA:10067857 {source="ORDO:647/e", source="Orphanet:647"}
xref: MESH:D049932 {source="DOID:7400", source="ORDO:647/e", source="Orphanet:647", source="MONDO:equivalentTo"}
xref: NCIT:C4692 {source="DOID:7400", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:251260 {source="DOID:7400", source="ORDO:647/e", source="Orphanet:647", source="MONDO:equivalentTo"}
xref: Orphanet:647 {source="OMIM:251260", source="MONDO:equivalentTo"}
xref: SCTID:234638009 {source="DOID:7400", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0398791 {source="DOID:7400", source="NCIT:C4692", source="ORDO:647/e", source="OMIM:251260", source="Orphanet:647", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN860323 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:7400", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015707 {source="Orphanet:647"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
is_a: MONDO:0015945 {source="Orphanet:647"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:647"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855057
property_value: exactMatch DOID:7400
property_value: exactMatch http://identifiers.org/meddra/10067857
property_value: exactMatch http://identifiers.org/mesh/C531759
property_value: exactMatch http://identifiers.org/mesh/D049932
property_value: exactMatch http://identifiers.org/omim/251260
property_value: exactMatch http://identifiers.org/snomedct/234638009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398791
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN860323
property_value: exactMatch NCIT:C4692
property_value: exactMatch Orphanet:647
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome xsd:anyURI {source="GARD:0003904"}

[Term]
id: MONDO:0009624
name: microcephaly and chorioretinopathy 1
def: "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." [NCIT:C129306]
subset: ordo_malformation_syndrome {source="Orphanet:2518"}
synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518]
synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518]
synonym: "MCCRP1" RELATED [MONDO:Lexical, OMIM:251270]
synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 1" EXACT [DOID:0080105, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:251270]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1; MCCRP1" RELATED [OMIM:251270]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:251270]
synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518]
synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080105 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2518/attributed", source="ORDO:2518/ntbt", source="Orphanet:2518"}
xref: NCIT:C129306 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:251270 {source="MONDO:equivalentTo", source="DOID:0080105", source="ORDO:2518/e", source="Orphanet:2518"}
xref: Orphanet:2518 {source="OMIM:251270", source="MONDO:equivalentTo"}
is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDO:Redundant", source="MONDOLEX:0009624", source="OMIM:251270"} ! microcephaly and chorioretinopathy
is_a: MONDO:0002254 {source="DOID:0080105", source="MONDOLEX:0009624"} ! syndromic disease
is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy
is_a: MONDO:0020262 {source="Orphanet:2518"} ! nervous system anomaly with eye involvement
relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2518"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855056
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278481
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3502492
property_value: exactMatch DOID:0080105
property_value: exactMatch http://identifiers.org/omim/251270
property_value: exactMatch NCIT:C129306
property_value: exactMatch Orphanet:2518

[Term]
id: MONDO:0009625
name: diencephalic-mesencephalic junction dysplasia syndrome 1
subset: gard_rare {source="GARD:0008510"}
synonym: "DMJDS1" EXACT [OMIM:251280]
synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280]
synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280]
synonym: "microcephaly, seizures, spasticity, and brain calcifications; MISSBC" RELATED [OMIM:251280]
synonym: "MISSBC" RELATED [OMIM:251280]
synonym: "recessive microcephaly with spastic quadriplegia" RELATED [GARD:0008510]
xref: GARD:0008510 {source="MONDO:equivalentTo"}
xref: MESH:C537546 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251280 {source="MONDO:equivalentTo"}
xref: UMLS:C1855055 {source="OMIM:251280", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0033211 {source="OMIM:251280"} ! diencephalic-mesencephalic junction dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537546
property_value: exactMatch http://identifiers.org/omim/251280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855055
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia xsd:anyURI {source="GARD:0008510"}

[Term]
id: MONDO:0009626
name: pseudo-TORCH syndrome
def: "Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." [Orphanet:1229]
comment: Editor note: consider splitting out type 1
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1229"}
subset: prototype_pattern
synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656]
synonym: "band-like calcification with simplified gyration and polymicrogyria" RELATED [MONDO:Lexical, OMIM:251290]
synonym: "band-like calcification with simplified gyration and polymicrogyria; BLCPMG" RELATED [OMIM:251290]
synonym: "Baraitser Brett Piesowicz syndrome" RELATED [GARD:0000815]
synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [Orphanet:1229]
synonym: "Baraitser-Reardon syndrome" EXACT [Orphanet:1229]
synonym: "bilateral band-like calcification with polymicrogyria" EXACT [Orphanet:1229]
synonym: "BLC-PMG" EXACT [Orphanet:1229]
synonym: "BLCPMG" RELATED [MONDO:Lexical, OMIM:251290]
synonym: "congenital intrauterine infection-like syndrome" RELATED [Orphanet:1229]
synonym: "microcephaly - intracranial calcification - intellectual disability" RELATED [GARD:0012426]
synonym: "microcephaly intracranial calcification" RELATED [GARD:0000815]
synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [Orphanet:1229]
synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229]
synonym: "pseudo-TORCH syndrome 1" RELATED [DOID:0050656]
synonym: "pseudo-TORCH syndrome 1; PTORCH1" RELATED [OMIM:251290]
synonym: "pseudo-TORCH syndrome type 1" EXACT [DOID:0050656, MONDORULE:1]
synonym: "PTORCH1" RELATED [OMIM:251290]
xref: DOID:0050656 {source="MONDO:equivalentTo"}
xref: GARD:0000815 {source="MONDO:equivalentTo"}
xref: GARD:0012426 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1229/attributed", source="ORDO:1229/ntbt", source="Orphanet:1229"}
xref: OMIMPS:251290 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1229 {source="OMIM:251290", source="MONDO:equivalentTo"}
xref: SCTID:722390006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.43/0.22"}
xref: UMLS:C3489725 {source="OMIM:251290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1229/e", source="Orphanet:1229"}
is_a: MONDO:0006025 {source="DOID:0050656", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0019117 {source="Orphanet:1229"} ! genetic nervous system disorder
property_value: exactMatch DOID:0050656
property_value: exactMatch http://identifiers.org/omim/251290
property_value: exactMatch http://identifiers.org/snomedct/722390006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489725
property_value: exactMatch Orphanet:1229

[Term]
id: MONDO:0009627
name: Galloway-Mowat syndrome
def: "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." [Orphanet:2065]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2065"}
subset: prototype_pattern
synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED [OMIM:251300]
synonym: "Galloway Mowat syndrome" RELATED [GARD:0000065]
synonym: "Galloway syndrome" EXACT [DOID:0060364, Orphanet:2065]
synonym: "Galloway-Mowat syndrome" EXACT [MONDO:Lexical, OMIM:251300]
synonym: "Galloway-Mowat syndrome; GAMOS" RELATED [OMIM:251300]
synonym: "GAMOS" RELATED [MONDO:Lexical, OMIM:251300]
synonym: "hiatal hernia-microcephaly-nephrosis, Galloway type" RELATED [GARD:0000065]
synonym: "microcephaly nephrosis syndrome" RELATED [GARD:0000065]
synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [DOID:0060364]
synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [GARD:0000065, OMIM:251300]
synonym: "microcephaly-hiatus hernia-nephrotic syndrome" EXACT [Orphanet:2065]
synonym: "nephrosis neuronal dysmigration syndrome" RELATED [GARD:0000065]
synonym: "nephrosis-microcephaly syndrome" EXACT [DOID:0060364]
synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [DOID:0060364, Orphanet:2065]
synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300]
xref: DOID:0060364 {source="MONDO:equivalentTo"}
xref: GARD:0000065 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:2065/attributed", source="ORDO:2065/ntbt", source="Orphanet:2065"}
xref: MESH:C537548 {source="DOID:0060364", source="MONDO:equivalentTo", source="Orphanet:2065", source="ORDO:2065/e"}
xref: NCIT:C132195 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:251300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="GARD:0000065", source="DOID:0060364", source="MONDO:equivalentTo", source="OMIM:251300"}
xref: SCTID:721297008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.38"}
xref: UMLS:C0795949 {source="GARD:0000065", source="DOID:0060364", source="NCIT:C132195", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251300", source="Orphanet:2065", source="ORDO:2065/e"}
is_a: MONDO:0000508 {source="Orphanet:2065"} ! syndromic intellectual disability
is_a: MONDO:0006025 {source="DOID:0060364", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015163 {source="Orphanet:2065"} ! primary glomerular disease
is_a: MONDO:0017120 {source="Orphanet:2065"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060364
property_value: exactMatch http://identifiers.org/mesh/C537548
property_value: exactMatch http://identifiers.org/snomedct/721297008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795949
property_value: exactMatch NCIT:C132195
property_value: exactMatch Orphanet:2065

[Term]
id: MONDO:0009628
name: microcolon (disease)
def: "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development." [NCIT:C98987]
synonym: "microcolon" EXACT [MONDO:ambiguous, OMIM:251400]
xref: HP:0004388 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98987 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:251400 {source="MONDO:equivalentTo"}
xref: SCTID:18389004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266200
property_value: exactMatch http://identifiers.org/mesh/C562563
property_value: exactMatch http://identifiers.org/omim/251400
property_value: exactMatch http://identifiers.org/snomedct/18389004
property_value: exactMatch NCIT:C98987

[Term]
id: MONDO:0009629
name: Desbuquois dysplasia 1
def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CANT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DBQD1" RELATED [MONDO:Lexical, OMIM:251450]
synonym: "Desbuquois dysplasia 1" EXACT [MONDO:Lexical, OMIM:251450]
synonym: "Desbuquois dysplasia 1; DBQD1" RELATED [OMIM:251450]
synonym: "Desbuquois dysplasia caused by mutation in CANT1" EXACT [MONDO:design_pattern]
synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1, OMIM:251450]
synonym: "Desbuquois dysplasia, Kim variant" RELATED [OMIM:251450]
synonym: "desbuquois syndrome" RELATED [OMIM:251450]
synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [OMIM:251450]
xref: OMIM:251450 {source="MONDO:equivalentTo"}
xref: UMLS:C4012146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015426 {source="DC-OMIM:251450", source="MONDO:Redundant", source="OMIM:251450"} ! Desbuquois dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278482
property_value: exactMatch http://identifiers.org/omim/251450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012146

[Term]
id: MONDO:0009630
name: microphthalmia, isolated, with coloboma 4
synonym: "MCOPCB4" RELATED [MONDO:Lexical, OMIM:251505]
synonym: "microphthalmia with colobomatous cyst" RELATED [OMIM:251505]
synonym: "microphthalmia, isolated, with coloboma 4" EXACT [MONDO:Lexical, OMIM:251505]
synonym: "microphthalmia, isolated, with coloboma 4; MCOPCB4" RELATED [OMIM:251505]
synonym: "microphthalmia, isolated, with coloboma type 4" EXACT [MONDORULE:1, OMIM:251505]
xref: OMIM:251505 {source="MONDO:equivalentTo"}
xref: SCTID:715771008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.37/0.09"}
xref: UMLS:C1855053 {source="OMIM:251505", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010303 {source="MONDOLEX:0009630", source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/omim/251505
property_value: exactMatch http://identifiers.org/snomedct/715771008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855053

[Term]
id: MONDO:0009631
name: isolated microphthalmia 1
def: "A microphthalmia that has_material_basis_in variation in the chromosomal region 14q32." [DOID:0060840, PMID:9545413]
synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:251600]
synonym: "isolated microphthalmia type 1" EXACT [DOID:0060840, MONDORULE:1]
synonym: "Mcop" RELATED [OMIM:251600]
synonym: "MCOP1" EXACT [DOID:0060840, MONDO:Lexical, OMIM:251600]
synonym: "microphthalmia, isolated 1" RELATED [MONDO:Lexical, OMIM:251600]
synonym: "microphthalmia, isolated 1; MCOP1" RELATED [OMIM:251600]
synonym: "microphthalmos, autosomal recessive" RELATED [OMIM:251600]
xref: DOID:0060840 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060840"}
xref: MESH:C565377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251600 {source="DOID:0060840", source="MONDO:equivalentTo"}
xref: UMLS:C1855052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251600"}
is_a: MONDO:0000062 {source="DC-OMIM:251600", source="MONDOLEX:0009631", source="OMIM:251600"} ! isolated microphthalmia
property_value: exactMatch DOID:0060840
property_value: exactMatch http://identifiers.org/mesh/C565377
property_value: exactMatch http://identifiers.org/omim/251600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855052

[Term]
id: MONDO:0009632
name: microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies
synonym: "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" EXACT [OMIM:251700]
xref: MESH:C566884 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251700 {source="MONDO:equivalentTo"}
xref: UMLS:C1968637 {source="OMIM:251700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566884
property_value: exactMatch http://identifiers.org/omim/251700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968637

[Term]
id: MONDO:0009633
name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
synonym: "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" EXACT [MONDO:Lexical, OMIM:251750]
synonym: "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; MSPKA" RELATED [OMIM:251750]
synonym: "MSPKA" RELATED [MONDO:Lexical, OMIM:251750]
xref: OMIM:251750 {source="MONDO:equivalentTo"}
xref: UMLS:C3538951 {source="MONDO:equivalentTo", source="OMIM:251750"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1562061
property_value: exactMatch http://identifiers.org/omim/251750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3538951

[Term]
id: MONDO:0009634
name: microtia with meatal atresia and conductive deafness
subset: gard_rare
synonym: "familial microtia and meatal atresia" RELATED [GARD:0003657]
synonym: "familial microtia with meatal atresia and conductive deafness" RELATED [GARD:0003657]
synonym: "Gupta Patton syndrome" RELATED [GARD:0000357]
synonym: "microtia meatal atresia deafness dominant" RELATED [GARD:0000357]
synonym: "microtia with meatal atresia and conductive deafness" EXACT [GARD:0000357, OMIM:251800]
synonym: "microtia, meatal atresia and conductive deafness" RELATED [GARD:0003657]
xref: GARD:0000357 {source="MONDO:equivalentTo"}
xref: GARD:0003657 {source="MONDO:equivalentTo"}
xref: MESH:C537469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251800 {source="MONDO:equivalentTo", source="GARD:0000357", source="GARD:0003657"}
xref: UMLS:C2931502 {source="OMIM:251800", source="MONDO:equivalentTo", source="GARD:0003657"}
is_a: MONDO:0002254 {source="MONDOLEX:0009634"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855050
property_value: exactMatch http://identifiers.org/mesh/C537469
property_value: exactMatch http://identifiers.org/omim/251800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931502

[Term]
id: MONDO:0009635
name: microvillus inclusion disease
def: "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." [Orphanet:2290]
subset: ordo_disease {source="Orphanet:2290"}
synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039]
synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850]
synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775]
synonym: "congenital microvillous atrophy" EXACT [Orphanet:2290]
synonym: "congenital microvillus atrophy" EXACT [DOID:0060775, Orphanet:2290]
synonym: "Davidson disease" EXACT [DOID:0060775, OMIM:251850]
synonym: "Davidson's disease" RELATED [GARD:0007039]
synonym: "DIAR2" RELATED [MONDO:Lexical, OMIM:251850]
synonym: "diarrhea 2 with microvillus atrophy" EXACT [DOID:0060775]
synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical, OMIM:251850]
synonym: "diarrhea 2, with microvillus atrophy; DIAR2" RELATED [OMIM:251850]
synonym: "familial enteropathy, microvillus" RELATED [GARD:0007039]
synonym: "intractable diarrhea of infancy" RELATED [DOID:0060775, OMIM:251850]
synonym: "microvillous inclusion disease" EXACT [Orphanet:2290]
synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850]
synonym: "microvillus inclusion disease" EXACT [OMIM:251850]
synonym: "MVD" EXACT [DOID:0060775]
synonym: "MVID" EXACT [Orphanet:2290]
synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern]
xref: DOID:0060775 {source="MONDO:equivalentTo"}
xref: GARD:0007039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:P78.3 {source="ORDO:2290/attributed", source="ORDO:2290/ntbt", source="DOID:0060775", source="Orphanet:2290"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068494 {source="Orphanet:2290", source="ORDO:2290/e"}
xref: OMIM:251850 {source="MONDO:equivalentTo", source="DOID:0060775", source="Orphanet:2290", source="ORDO:2290/e"}
xref: Orphanet:2290 {source="MONDO:equivalentTo", source="DOID:0060775", source="OMIM:251850"}
xref: SCTID:235729009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0341306 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2290", source="ORDO:2290/e", source="OMIM:251850"}
is_a: MONDO:0015182 {source="Orphanet:2290"} ! congenital enteropathy involving intestinal mucosa development
is_a: MONDO:0019126 {source="Orphanet:2290"} ! intractable diarrhea of infancy
is_a: MONDO:0045032 ! congenital secretory diarrhea
property_value: exactMatch DOID:0060775
property_value: exactMatch http://identifiers.org/meddra/10068494
property_value: exactMatch http://identifiers.org/omim/251850
property_value: exactMatch http://identifiers.org/snomedct/235729009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341306
property_value: exactMatch Orphanet:2290

[Term]
id: MONDO:0009636
name: mitochondrial DNA depletion syndrome 3
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:279934"}
synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" RELATED [MONDO:Lexical, OMIM:251880]
synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type); MTDPS3" RELATED [OMIM:251880]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MONDORULE:1]
synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934]
synonym: "MTDPS3" RELATED [MONDO:Lexical, OMIM:251880]
xref: DOID:0080121 {source="MONDO:equivalentTo"}
xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="ORDO:279934/e", source="Orphanet:279934"}
xref: Orphanet:279934 {source="MONDO:equivalentTo", source="OMIM:251880"}
xref: UMLS:C3151513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251880"}
xref: UMLS:C4310935 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016808 {source="MONDOLEX:0009636", source="Orphanet:279934"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
is_a: MONDO:0019236 {source="Orphanet:279934"} ! inborn disorder of purine metabolism
property_value: exactMatch DOID:0080121
property_value: exactMatch http://identifiers.org/omim/251880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310935
property_value: exactMatch Orphanet:279934

[Term]
id: MONDO:0009637
name: inborn mitochondrial myopathy
def: "Myopathy caused by mitochondrial abnormalities." [NCIT:C101328]
subset: ordo_group_of_disorders {source="Orphanet:206966"}
synonym: "mitochondrial cytopathy" EXACT [DOID:699]
synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900]
xref: DOID:699 {source="MONDO:equivalentTo"}
xref: GARD:0011956 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="Orphanet:206966", source="ORDO:206966/attributed", source="ORDO:206966/ntbt"}
xref: MedDRA:10027710 {source="Orphanet:206966", source="ORDO:206966/e"}
xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="ORDO:206966/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C101328 {source="DOID:699", source="MONDO:equivalentTo"}
xref: Orphanet:206966 {source="MONDO:equivalentTo"}
xref: UMLS:C0162670 {source="DOID:699", source="Orphanet:206966", source="OMIM:251900", source="ORDO:206966/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C101328"}
is_a: MONDO:0002921 {source="NCIT:C101328"} ! congenital structural myopathy
is_a: MONDO:0004069 {source="MESH:D017240"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0004069 ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0005336 ! myopathy
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:206966"} ! muscular lipidosis
property_value: closeMatch http://identifiers.org/snomedct/16851005
property_value: closeMatch http://identifiers.org/snomedct/240096000
property_value: exactMatch DOID:699
property_value: exactMatch http://identifiers.org/meddra/10027710
property_value: exactMatch http://identifiers.org/mesh/D017240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162670
property_value: exactMatch NCIT:C101328
property_value: exactMatch Orphanet:206966

[Term]
id: MONDO:0009638
name: mitochondrial myopathy with a defect in mitochondrial-protein transport
synonym: "mitochondrial myopathy with a defect in mitochondrial-protein transport" RELATED [OMIM:251945]
xref: MESH:C565376 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251945 {source="MONDO:equivalentTo"}
xref: UMLS:C1855034 {source="OMIM:251945", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="DC-OMIM:251945", source="MESH:C565376"} ! inborn mitochondrial myopathy
property_value: exactMatch http://identifiers.org/mesh/C565376
property_value: exactMatch http://identifiers.org/omim/251945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855034

[Term]
id: MONDO:0009639
name: obsolete mitochondrial myopathy with lactic acidosis
is_obsolete: true
replaced_by: MONDO:0016825

[Term]
id: MONDO:0009640
name: mitochondrial complex I deficiency, nuclear type
def: "Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome." [Orphanet:2609]
comment: Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042
subset: clingen
synonym: "mitochondrial complex 1 deficiency" RELATED [OMIM:252010]
synonym: "mitochondrial complex I deficiency" EXACT [OMIM:252010]
synonym: "mitochondrial NADH dehydrogenase component of Complex I, deficiency of" RELATED [OMIM:252010]
synonym: "NADH-coenzyme Q reductase deficiency" RELATED [OMIM:252010]
synonym: "NADH:Q(1) oxidoreductase deficiency" RELATED [OMIM:252010]
xref: GARD:0003908 {source="MONDO:subClassOf"}
xref: ICD10:G71.3 {source="ORDO:2609/attributed", source="ORDO:2609/ntbt", source="Orphanet:2609"}
xref: OMIM:252010 {source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609", source="ORDO:2609/e"}
xref: OMIMPS:252010 {source="MONDO:equivalentTo"}
xref: UMLS:C1838979 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252010"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 {source="Orphanet:2609"} ! inborn mitochondrial myopathy
is_a: MONDO:0015920 ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016805 {source="Orphanet:2609"} ! isolated oxidative phosphorylation complex disorder
is_a: MONDO:0100133 {xref="https://orcid.org/0000-0001-5208-3432", source="https://github.com/monarch-initiative/mondo/issues/1042"} ! mitochondrial complex I deficiency
relationship: excluded_subClassOf MONDO:0000066 {source="DC-OMIM:252010"} ! mitochondrial complex deficiency
property_value: exactMatch http://identifiers.org/omim/252010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838979

[Term]
id: MONDO:0009641
name: mitochondrial complex II deficiency
def: "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA , SDHB , SDHD , or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." [https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency]
subset: gard_rare {source="GARD:0005053"}
subset: ordo_disease {source="Orphanet:3208"}
synonym: "Complex 2 mitochondrial respiratory chain deficiency" RELATED [GARD:0005053]
synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "isolated succinate-CoQ reductase deficiency" EXACT [DOID:0060537]
synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "mitochondrial Complex 2 deficiency" RELATED [OMIM:252011]
synonym: "mitochondrial complex II deficiency" EXACT [OMIM:252011]
synonym: "mitochondrial respiratory chain complex II deficiency" RELATED [GARD:0005053]
synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011]
synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053]
xref: DOID:0060537 {source="MONDO:equivalentTo"}
xref: GARD:0005053 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:3208/attributed", source="ORDO:3208/ntbt", source="Orphanet:3208", source="DOID:0060537"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565375 {source="MONDO:equivalentTo", source="DOID:0060537", source="MONDO:ontobio"}
xref: OMIM:252011 {source="MONDO:equivalentTo", source="Orphanet:3208", source="ORDO:3208/e", source="DOID:0060537"}
xref: Orphanet:3208 {source="MONDO:equivalentTo", source="OMIM:252011", source="DOID:0060537"}
xref: SCTID:124165006 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
is_a: MONDO:0000066 {source="DC-OMIM:252011"} ! mitochondrial complex deficiency
is_a: MONDO:0009637 {source="Orphanet:3208"} ! inborn mitochondrial myopathy
is_a: MONDO:0016805 {source="Orphanet:3208"} ! isolated oxidative phosphorylation complex disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855008
property_value: exactMatch DOID:0060537
property_value: exactMatch http://identifiers.org/mesh/C565375
property_value: exactMatch http://identifiers.org/omim/252011
property_value: exactMatch http://identifiers.org/snomedct/124165006
property_value: exactMatch Orphanet:3208
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency xsd:anyURI {source="GARD:0005053"}

[Term]
id: MONDO:0009642
name: orofaciodigital syndrome type II
def: "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." [Orphanet:2751]
subset: ordo_malformation_syndrome {source="Orphanet:2751"}
synonym: "MOHR syndrome" EXACT [OMIM:252100]
synonym: "Mohr syndrome" EXACT [Orphanet:2751]
synonym: "OFD syndrome 2" RELATED [GARD:0003701]
synonym: "OFD2" EXACT [Orphanet:2751]
synonym: "Ofds 2" RELATED [OMIM:252100]
synonym: "oral facial digital syndrome 2" RELATED [GARD:0003701]
synonym: "oral facial digital syndrome type 2" RELATED [GARD:0003701]
synonym: "oral-facial-digital syndrome type 2" EXACT [Orphanet:2751]
synonym: "oral-Facial-digital syndrome, type 2" RELATED [OMIM:252100]
synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100]
synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701]
synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751]
xref: GARD:0003701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2751", source="ORDO:2751/attributed", source="ORDO:2751/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:252100 {source="Orphanet:2751", source="ORDO:2751/e", source="MONDO:equivalentTo"}
xref: Orphanet:2751 {source="MONDO:equivalentTo", source="OMIM:252100"}
xref: SCTID:1779005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000508 {source="Orphanet:2751"} ! syndromic intellectual disability
is_a: MONDO:0015375 {source="Orphanet:2751", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0019589 {source="Orphanet:2751"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C538585
property_value: exactMatch http://identifiers.org/omim/252100
property_value: exactMatch http://identifiers.org/snomedct/1779005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931889
property_value: exactMatch Orphanet:2751

[Term]
id: MONDO:0009643
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
subset: ordo_etiological_subtype {source="Orphanet:308386"}
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [DOID:0111164, Orphanet:308386]
synonym: "MOCOD type A" EXACT [DOID:0111164, Orphanet:308386]
synonym: "MOCODA" EXACT [DOID:0111164, MONDO:Lexical, OMIM:252150]
synonym: "molybdenum cofactor deficiency complementation group A" EXACT [DOID:0111164]
synonym: "molybdenum cofactor deficiency type A" RELATED [DOID:0111164]
synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MONDO:Lexical, OMIM:252150]
synonym: "molybdenum cofactor deficiency, complementation group A; MOCODA" RELATED [OMIM:252150]
synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150]
synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150]
xref: DOID:0111164 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:308386/attributed", source="ORDO:308386/ntbt", source="Orphanet:308386"}
xref: MESH:C565372 {source="MONDO:equivalentTo"}
xref: OMIM:252150 {source="MONDO:equivalentTo", source="ORDO:308386/e", source="DOID:0111164", source="Orphanet:308386"}
xref: Orphanet:308386 {source="OMIM:252150", source="MONDO:equivalentTo", source="DOID:0111164"}
xref: PMID:9731530 {source="DOID:0111164"}
xref: UMLS:C1854988 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:252150", source="MONDO:equivalentTo", source="DOID:0111164", source="Orphanet:308386"}
is_a: MONDO:0020480 {source="DOID:0111164", source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268119
property_value: exactMatch DOID:0111164
property_value: exactMatch http://identifiers.org/mesh/C565372
property_value: exactMatch http://identifiers.org/omim/252150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854988
property_value: exactMatch Orphanet:308386

[Term]
id: MONDO:0009644
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
subset: ordo_etiological_subtype {source="Orphanet:308393"}
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [DOID:0111163, Orphanet:308393]
synonym: "MOCOD type B" EXACT [DOID:0111163, Orphanet:308393]
synonym: "MOCODB" EXACT [DOID:0111163, MONDO:Lexical, OMIM:252160]
synonym: "molybdenum cofactor deficiency complementation group B" EXACT [DOID:0111163]
synonym: "molybdenum cofactor deficiency type B" RELATED [DOID:0111163]
synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MONDO:Lexical, OMIM:252160]
synonym: "molybdenum cofactor deficiency, complementation group B; MOCODB" RELATED [OMIM:252160]
synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160]
xref: DOID:0111163 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="Orphanet:308393", source="ORDO:308393/attributed", source="ORDO:308393/ntbt"}
xref: MESH:C565373 {source="MONDO:equivalentTo"}
xref: OMIM:252160 {source="ORDO:308393/e", source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163"}
xref: Orphanet:308393 {source="OMIM:252160", source="MONDO:equivalentTo", source="DOID:0111163"}
xref: PMID:10053004 {source="DOID:0111163"}
xref: UMLS:C1854989 {source="MEDGEN:kboom-pr98-c99", source="OMIM:252160", source="NCBI:mim2gene_medline", source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163"}
is_a: MONDO:0020480 {source="DOID:0111163", source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
property_value: exactMatch DOID:0111163
property_value: exactMatch http://identifiers.org/mesh/C565373
property_value: exactMatch http://identifiers.org/omim/252160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854989
property_value: exactMatch Orphanet:308393

[Term]
id: MONDO:0009645
name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
synonym: "monocyte chemotactic disorder" EXACT [OMIM:252250]
xref: MESH:C565371 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:252250 {source="MONDO:equivalentTo"}
xref: UMLS:C1854982 {source="OMIM:252250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 {source="ORDO:1334/btnt"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/mesh/C565371
property_value: exactMatch http://identifiers.org/omim/252250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854982

[Term]
id: MONDO:0009646
name: monosomy 7 of bone marrow
synonym: "chromosome 7Q deletion" RELATED [OMIM:252270]
synonym: "monosomy 7 of bone marrow" EXACT [OMIM:252270]
synonym: "myelodysplasia and leukemia syndrome with monosomy 7" RELATED [OMIM:252270]
xref: MESH:C565370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:252270 {source="MONDO:equivalentTo"}
xref: UMLS:C1854978 {source="OMIM:252270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565370/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565370
property_value: exactMatch http://identifiers.org/omim/252270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854978

[Term]
id: MONDO:0009647
name: Morquio syndrome C
synonym: "Morquio syndrome C" EXACT [OMIM:252300]
synonym: "Morquio syndrome type C" EXACT [MONDORULE:1, OMIM:252300]
synonym: "Morquio syndrome, Nonkeratosulfate-Excreting type" RELATED [OMIM:252300]
xref: MESH:C536247 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:252300 {source="MONDO:equivalentTo"}
is_a: MONDO:0018938 {source="MONDOLEX:0009647", source="ORDO:582/btnt"} ! mucopolysaccharidosis type 4
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854965
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931140
property_value: exactMatch http://identifiers.org/mesh/C536247
property_value: exactMatch http://identifiers.org/omim/252300

[Term]
id: MONDO:0009648
name: peripheral motor neuropathy-dysautonomia syndrome
def: "Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive." [Orphanet:2400]
subset: ordo_disease {source="Orphanet:2400"}
synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400]
synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320]
xref: MESH:C536988 {source="ORDO:2400/e", source="Orphanet:2400", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:252320 {source="ORDO:2400/e", source="Orphanet:2400", source="MONDO:equivalentTo"}
xref: Orphanet:2400 {source="MONDO:equivalentTo", source="OMIM:252320"}
xref: UMLS:C1854961 {source="ORDO:2400/e", source="NCBI:mim2gene_medline", source="Orphanet:2400", source="MONDO:equivalentTo", source="OMIM:252320", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015914 {source="Orphanet:2400"} ! primary orthostatic hypotension
is_a: MONDO:0019117 {source="Orphanet:2400", source="Orphanet:2400/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C536988
property_value: exactMatch http://identifiers.org/omim/252320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854961
property_value: exactMatch Orphanet:2400

[Term]
id: MONDO:0009649
name: MYMY1
synonym: "Moyamoya disease" RELATED [OMIM:252350]
synonym: "Moyamoya disease 1" RELATED [MONDO:Lexical, OMIM:252350]
synonym: "Moyamoya disease 1; MYMY1" RELATED [OMIM:252350]
synonym: "MYMY1" EXACT [MONDO:Lexical, OMIM:252350]
synonym: "spontaneous occlusion of the circle of Willis" RELATED [OMIM:252350]
xref: ICD9:437.5 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:252350 {source="MONDO:equivalentTo"}
xref: SCTID:69116000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0016820 {source="DC-OMIM:252350", source="OMIM:252350"} ! Moyamoya disease
property_value: exactMatch http://identifiers.org/omim/252350
property_value: exactMatch http://identifiers.org/snomedct/69116000

[Term]
id: MONDO:0009650
name: mucolipidosis type II
def: "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." [Orphanet:576]
subset: ordo_disease {source="Orphanet:576"}
synonym: "GNPTA" RELATED [GARD:0006749]
synonym: "I cell disease" RELATED [GARD:0006749]
synonym: "I-cell disease" EXACT [DOID:0080070, OMIM:252500, Orphanet:576]
synonym: "inclusion cell disease" RELATED [GARD:0006749]
synonym: "Leroy disease" RELATED [GARD:0006749]
synonym: "ML 2" RELATED [GARD:0006749]
synonym: "ML 2 Alpha/Beta" RELATED [OMIM:252500]
synonym: "ML disorder type 2" RELATED [GARD:0006749]
synonym: "mucolipidosis 2" RELATED [OMIM:252500]
synonym: "mucolipidosis 2 alpha/beta" RELATED [OMIM:252500]
synonym: "mucolipidosis II" EXACT [DOID:0080070]
synonym: "mucolipidosis II alpha/beta" RELATED [OMIM:252500]
synonym: "mucolipidosis type II" EXACT [NCIT:C61270]
synonym: "mucolipidosis type II alpha/beta" EXACT [Orphanet:576]
synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:576]
synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749]
xref: DOID:0080070 {source="MONDO:equivalentTo"}
xref: GARD:0006749 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.0 {source="Orphanet:576", source="ORDO:576/inclusion", source="ORDO:576/ntbt"}
xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="ORDO:576/e"}
xref: NCIT:C61270 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:252500 {source="Orphanet:576", source="MONDO:equivalentTo", source="ORDO:576/e", source="DOID:0080070"}
xref: Orphanet:576 {source="MONDO:equivalentTo", source="OMIM:252500"}
xref: SCTID:70199000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020725 {source="Orphanet:576", source="MONDO:equivalentTo", source="NCIT:C61270", source="OMIM:252500", source="ORDO:576/e"}
xref: UMLS:C2673377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252500", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019248 {source="DC-OMIM:252500", source="MESH:C538602", source="NCIT:C61270", source="Orphanet:576", source="linkedlifedata"} ! mucolipidosis
is_a: MONDO:0019706 {source="Orphanet:576"} ! lysosomal storage disease with skeletal involvement
property_value: exactMatch DOID:0080070
property_value: exactMatch http://identifiers.org/mesh/C538602
property_value: exactMatch http://identifiers.org/omim/252500
property_value: exactMatch http://identifiers.org/snomedct/70199000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931894
property_value: exactMatch NCIT:C61270
property_value: exactMatch Orphanet:576

[Term]
id: MONDO:0009651
name: obsolete pseudo-Hurler polydystrophy
subset: ordo_clinical_subtype {source="Orphanet:423461"}
is_obsolete: true
replaced_by: MONDO:0018931

[Term]
id: MONDO:0009652
name: mucolipidosis type III gamma
def: "Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta (see these terms). Cognitive function is normal or only slightly impaired and retinitis pigmentosa (see this term) has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." [Orphanet:423470]
subset: ordo_clinical_subtype {source="Orphanet:423470"}
synonym: "ML 3 gamma" EXACT [OMIM:252605, Orphanet:423470]
synonym: "ML 3C" RELATED [OMIM:252605]
synonym: "ML III gamma" EXACT [Orphanet:423470]
synonym: "mucolipidosis 3 gamma" RELATED [OMIM:252605]
synonym: "mucolipidosis 3C" RELATED [OMIM:252605]
synonym: "mucolipidosis III gamma" RELATED [OMIM:252605]
synonym: "mucolipidosis III, complementation group C" RELATED [OMIM:252605]
synonym: "mucolipidosis III, Iranian variant form" RELATED [OMIM:252605]
synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605]
synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470]
xref: ICD10:E77.0 {source="ORDO:423470/attributed", source="ORDO:423470/ntbt", source="Orphanet:423470"}
xref: MESH:C565367 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129978 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:252605 {source="MONDO:equivalentTo", source="ORDO:423470/e", source="Orphanet:423470"}
xref: Orphanet:423470 {source="OMIM:252605", source="MONDO:equivalentTo"}
xref: UMLS:C1854896 {source="MEDGEN:kboom-pr98-c99", source="OMIM:252605", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129978", source="Orphanet:423470"}
is_a: MONDO:0018931 {source="MONDO:cjm", source="MONDOLEX:0009651"} ! mucolipidosis type III
property_value: exactMatch http://identifiers.org/mesh/C565367
property_value: exactMatch http://identifiers.org/omim/252605
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854896
property_value: exactMatch NCIT:C129978
property_value: exactMatch Orphanet:423470

[Term]
id: MONDO:0009653
name: mucolipidosis type IV
def: "Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." [Orphanet:578]
subset: gard_rare
subset: ordo_disease {source="Orphanet:578"}
synonym: "Berman syndrome" RELATED [GARD:0000094, GTR:AN1125032]
synonym: "ganglioside neuraminidase deficiency" RELATED [GARD:0000094, GTR:AN1125033]
synonym: "ganglioside sialidase deficiency" RELATED [GARD:0000094, GTR:AN1124590]
synonym: "ML 4" RELATED [GARD:0000094, OMIM:252650]
synonym: "ML IV" RELATED []
synonym: "ML4" RELATED [MONDO:Lexical, OMIM:252650]
synonym: "MLIV" RELATED [GTR:AN1148743]
synonym: "mucolipidosis 4" RELATED [OMIM:252650]
synonym: "mucolipidosis IV" RELATED [MONDO:Lexical, OMIM:252650]
synonym: "mucolipidosis IV; ML4" RELATED [OMIM:252650]
synonym: "mucolipidosis type 4" EXACT [MONDORULE:1, OMIM:252650]
synonym: "mucolipidosis type IV" EXACT [GARD:0000094]
synonym: "sialolipidosis" RELATED [OMIM:252650]
xref: GARD:0000094 {source="MONDO:equivalentTo"}
xref: GTR:AN1124590 {source="UMLS:CN716584"}
xref: GTR:AN1125032 {source="UMLS:CN716584"}
xref: GTR:AN1125033 {source="UMLS:CN716584"}
xref: GTR:AN1148743 {source="UMLS:CN716584"}
xref: ICD10:E75.1 {source="Orphanet:578", source="ORDO:578/inclusion", source="ORDO:578/ntbt"}
xref: NCIT:C84896 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:252650 {source="Orphanet:578", source="MONDO:equivalentTo", source="GARD:0000094", source="ORDO:578/e"}
xref: Orphanet:578 {source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094"}
xref: SCTID:111384001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.42/0.23"}
xref: UMLS:C0238286 {source="Orphanet:578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094", source="NCIT:C84896", source="ORDO:578/e"}
xref: UMLS:CN716584 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016397 {source="Orphanet:578"} ! lysosomal disease with epilepsy
is_a: MONDO:0019248 {source="DC-OMIM:252650", source="NCIT:C84896", source="Orphanet:578", source="linkedlifedata"} ! mucolipidosis
is_a: MONDO:0020244 {source="Orphanet:578"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020279 {source="Orphanet:578"} ! metabolic disease with corneal opacity
is_a: MONDO:0044975 ! disease of transporter activity
property_value: exactMatch http://identifiers.org/omim/252650
property_value: exactMatch http://identifiers.org/snomedct/111384001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN716584
property_value: exactMatch NCIT:C84896
property_value: exactMatch Orphanet:578

[Term]
id: MONDO:0009654
name: mucopolysaccharidoses, unclassified types
synonym: "mucopolysaccharidoses, unclassified types" EXACT [OMIM:252700]
xref: MESH:C562442 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:252700 {source="MONDO:equivalentTo"}
xref: UMLS:C0220752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252700"}
is_a: MONDO:0019249 {source="DC-OMIM:252700", source="MESH:C562442"} ! mucopolysaccharidosis
property_value: exactMatch http://identifiers.org/mesh/C562442
property_value: exactMatch http://identifiers.org/omim/252700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220752

[Term]
id: MONDO:0009655
name: Sanfilippo syndrome type A
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." [NCIT:C84897]
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:79269"}
synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269]
synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900]
synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649]
synonym: "MPS 3A" RELATED [OMIM:252900]
synonym: "MPS III A" EXACT [NCIT:C84897]
synonym: "MPS IIIA" RELATED [GARD:0007071]
synonym: "MPS3A" EXACT [MONDO:Lexical, OMIM:252900, Orphanet:79269]
synonym: "MPSIIIA" EXACT [Orphanet:79269]
synonym: "mucopoly-saccharidosis type 3A" RELATED [GARD:0007071]
synonym: "mucopolysaccharidosis type 3A" EXACT [Orphanet:79269]
synonym: "mucopolysaccharidosis type IIIA" EXACT [Orphanet:79269]
synonym: "mucopolysaccharidosis, type 3A" RELATED [OMIM:252900]
synonym: "mucopolysaccharidosis, type IIIA" RELATED [MONDO:Lexical, OMIM:252900]
synonym: "mucopolysaccharidosis, type IIIA; MPS3A" RELATED [OMIM:252900]
synonym: "Sanfilippo A" EXACT [NCIT:C84897]
synonym: "Sanfilippo syndrome a" RELATED [OMIM:252900]
synonym: "sulfamidase deficiency" RELATED [OMIM:252900]
xref: GARD:0002649 {source="MONDO:equivalentTo"}
xref: GARD:0007071 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:79269/attributed", source="ORDO:79269/ntbt", source="Orphanet:79269"}
xref: NCIT:C84897 {source="MONDO:kboom-pr-0.87/0.72/0.23", source="MONDO:equivalentTo"}
xref: OMIM:252900 {source="MONDO:equivalentTo", source="ORDO:79269/e", source="Orphanet:79269"}
xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"}
xref: SCTID:41572006 {source="MONDO:kboom-pr-0.66/0.29/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0086647 {source="NCIT:C84897", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79269"}
is_a: MONDO:0018937 {source="MONDOLEX:0009655", source="NCIT:C84897", source="Orphanet:79269", source="linkedlifedata"} ! mucopolysaccharidosis type 3
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1420015
property_value: exactMatch http://identifiers.org/omim/252900
property_value: exactMatch http://identifiers.org/snomedct/41572006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086647
property_value: exactMatch NCIT:C84897
property_value: exactMatch Orphanet:79269

[Term]
id: MONDO:0009656
name: Sanfilippo syndrome type B
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84898]
subset: ordo_etiological_subtype {source="Orphanet:79270"}
synonym: "MPS 3B" RELATED [OMIM:252920]
synonym: "MPS III B" EXACT [NCIT:C84898]
synonym: "MPS IIIB" RELATED [GARD:0007072]
synonym: "MPS3B" EXACT [MONDO:Lexical, OMIM:252920, Orphanet:79270]
synonym: "MPSIIIB" EXACT [Orphanet:79270]
synonym: "Mucopoly-saccharidosis type 3B" RELATED [GARD:0007072]
synonym: "mucopolysaccharidosis type 3B" EXACT [Orphanet:79270]
synonym: "mucopolysaccharidosis type IIIB" EXACT [Orphanet:79270]
synonym: "mucopolysaccharidosis, type 3B" RELATED [OMIM:252920]
synonym: "mucopolysaccharidosis, type IIIB" RELATED [MONDO:Lexical, OMIM:252920]
synonym: "mucopolysaccharidosis, type IIIB; MPS3B" RELATED [OMIM:252920]
synonym: "N-Acetyl-Alpha-D-glucosaminidase deficiency" RELATED [OMIM:252920]
synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [Orphanet:79270]
synonym: "NAGLU deficiency" RELATED [OMIM:252920]
synonym: "Sanfilippo B" EXACT [NCIT:C84898]
synonym: "Sanfilippo syndrome B" RELATED [OMIM:252920]
xref: GARD:0007072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="Orphanet:79270", source="ORDO:79270/attributed", source="ORDO:79270/ntbt"}
xref: NCIT:C84898 {source="MONDO:kboom-pr-0.89/0.75/0.23", source="MONDO:equivalentTo"}
xref: OMIM:252920 {source="ORDO:79270/e", source="Orphanet:79270", source="MONDO:equivalentTo"}
xref: Orphanet:79270 {source="MONDO:equivalentTo", source="OMIM:252920"}
xref: SCTID:59990008 {source="MONDO:equivalentTo"}
xref: UMLS:C0086648 {source="NCIT:C84898", source="MEDGEN:kboom-pr98-c99", source="Orphanet:79270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252920"}
is_a: MONDO:0018937 {source="MONDOLEX:0009656", source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3
property_value: exactMatch http://identifiers.org/omim/252920
property_value: exactMatch http://identifiers.org/snomedct/59990008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086648
property_value: exactMatch NCIT:C84898
property_value: exactMatch Orphanet:79270

[Term]
id: MONDO:0009657
name: Sanfilippo syndrome type C
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84899]
subset: ordo_etiological_subtype {source="Orphanet:79271"}
synonym: "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" RELATED [GARD:0007073]
synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [OMIM:252930]
synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [Orphanet:79271]
synonym: "HGSNAT deficiency" EXACT [Orphanet:79271]
synonym: "MPS 3C" RELATED [OMIM:252930]
synonym: "MPS III C" EXACT [NCIT:C84899]
synonym: "MPS IIIC" RELATED [GARD:0007073]
synonym: "MPS3C" EXACT [MONDO:Lexical, OMIM:252930, Orphanet:79271]
synonym: "MPSIIIC" EXACT [Orphanet:79271]
synonym: "Mucopoly-saccharidosis type 3C" RELATED [GARD:0007073]
synonym: "mucopolysaccharidosis type 3C" EXACT [Orphanet:79271]
synonym: "mucopolysaccharidosis type IIIC" EXACT [Orphanet:79271]
synonym: "mucopolysaccharidosis, type 3C" RELATED [OMIM:252930]
synonym: "mucopolysaccharidosis, type IIIC" RELATED [MONDO:Lexical, OMIM:252930]
synonym: "mucopolysaccharidosis, type IIIC; MPS3C" RELATED [OMIM:252930]
synonym: "Sanfilippo C" EXACT [NCIT:C84899]
synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930]
xref: GARD:0007073 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="Orphanet:79271", source="ORDO:79271/attributed", source="ORDO:79271/ntbt"}
xref: NCIT:C84899 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.23"}
xref: OMIM:252930 {source="ORDO:79271/e", source="MONDO:equivalentTo", source="Orphanet:79271"}
xref: Orphanet:79271 {source="MONDO:equivalentTo", source="OMIM:252930"}
xref: SCTID:75238000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.51"}
xref: UMLS:C0086649 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C84899", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79271", source="OMIM:252930"}
is_a: MONDO:0018937 {source="MONDOLEX:0009657", source="NCIT:C84899", source="Orphanet:79271", source="linkedlifedata"} ! mucopolysaccharidosis type 3
property_value: exactMatch http://identifiers.org/omim/252930
property_value: exactMatch http://identifiers.org/snomedct/75238000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086649
property_value: exactMatch NCIT:C84899
property_value: exactMatch Orphanet:79271

[Term]
id: MONDO:0009658
name: Sanfilippo syndrome type D
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." [NCIT:C84900]
subset: ordo_etiological_subtype {source="Orphanet:79272"}
synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272]
synonym: "GNS deficiency" EXACT [Orphanet:79272]
synonym: "MPS 3D" RELATED [OMIM:252940]
synonym: "MPS III D" EXACT [NCIT:C84900]
synonym: "MPS IIID" RELATED [GARD:0007074]
synonym: "MPS3D" EXACT [MONDO:Lexical, OMIM:252940, Orphanet:79272]
synonym: "MPSIIID" EXACT [Orphanet:79272]
synonym: "Mucopoly-saccharidosis type 3D" RELATED [GARD:0007074]
synonym: "mucopolysaccharidosis type 3D" EXACT [Orphanet:79272]
synonym: "mucopolysaccharidosis type IIID" EXACT [Orphanet:79272]
synonym: "mucopolysaccharidosis, type 3D" RELATED [OMIM:252940]
synonym: "mucopolysaccharidosis, type IIID" RELATED [MONDO:Lexical, OMIM:252940]
synonym: "mucopolysaccharidosis, type IIID; MPS3D" RELATED [OMIM:252940]
synonym: "N-acetylglucosamine-6-sulfatase deficiency" RELATED [OMIM:252940]
synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiency" RELATED [GARD:0007074]
synonym: "Sanfilippo D" EXACT [NCIT:C84900]
synonym: "Sanfilippo syndrome D" RELATED [OMIM:252940]
xref: GARD:0007074 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:79272/attributed", source="ORDO:79272/ntbt", source="Orphanet:79272"}
xref: NCIT:C84900 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.23"}
xref: OMIM:252940 {source="ORDO:79272/e", source="MONDO:equivalentTo", source="Orphanet:79272"}
xref: Orphanet:79272 {source="MONDO:equivalentTo", source="OMIM:252940"}
xref: SCTID:15892005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.51"}
xref: UMLS:C0086650 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C84900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79272", source="OMIM:252940"}
is_a: MONDO:0018937 {source="MONDOLEX:0009658", source="NCIT:C84900", source="Orphanet:79272", source="linkedlifedata"} ! mucopolysaccharidosis type 3
property_value: exactMatch http://identifiers.org/omim/252940
property_value: exactMatch http://identifiers.org/snomedct/15892005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086650
property_value: exactMatch NCIT:C84900
property_value: exactMatch Orphanet:79272

[Term]
id: MONDO:0009659
name: mucopolysaccharidosis type 4A
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." [NCIT:C84901]
subset: ordo_clinical_subtype {source="Orphanet:309297"}
synonym: "galactosamine-6-sulfatase deficiency" EXACT [Orphanet:309297]
synonym: "GALNS deficiency" EXACT [OMIM:253000, Orphanet:309297]
synonym: "Morquio A disease" BROAD [OMIM:253000]
synonym: "Morquio disease type A" EXACT [Orphanet:309297]
synonym: "Morquio syndrome A" EXACT [OMIM:253000]
synonym: "MPS 4A" RELATED [OMIM:253000]
synonym: "MPS IV A" EXACT [NCIT:C84901]
synonym: "MPS IVA" RELATED [GARD:0003785]
synonym: "MPS4A" EXACT [MONDO:Lexical, OMIM:253000, Orphanet:309297]
synonym: "MPSIVA" EXACT [Orphanet:309297]
synonym: "mucopolysaccharidosis type IVA" EXACT [Orphanet:309297]
synonym: "mucopolysaccharidosis, type 4A" RELATED [OMIM:253000]
synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000]
synonym: "mucopolysaccharidosis, type IVA; MPS4A" RELATED [OMIM:253000]
synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297]
xref: GARD:0003785 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:309297/attributed", source="ORDO:309297/ntbt", source="Orphanet:309297"}
xref: NCIT:C84901 {source="MONDO:kboom-pr-0.87/0.72/0.24", source="MONDO:equivalentTo"}
xref: OMIM:253000 {source="ORDO:309297/e", source="MONDO:equivalentTo", source="Orphanet:309297"}
xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"}
xref: SCTID:7259005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.33/0.09"}
is_a: MONDO:0018938 {source="MONDOLEX:0009659", source="NCIT:C84901", source="Orphanet:309297"} ! mucopolysaccharidosis type 4
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3179194
property_value: exactMatch http://identifiers.org/omim/253000
property_value: exactMatch http://identifiers.org/snomedct/7259005
property_value: exactMatch NCIT:C84901
property_value: exactMatch Orphanet:309297

[Term]
id: MONDO:0009660
name: mucopolysaccharidosis type 4B
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." [NCIT:C84902]
subset: ordo_clinical_subtype {source="Orphanet:309310"}
synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310]
synonym: "Morquio disease type B" EXACT [Orphanet:309310]
synonym: "Morquio syndrome B" EXACT [OMIM:253010]
synonym: "MPS 4B" EXACT [OMIM:253010]
synonym: "MPS IV B" EXACT [NCIT:C84902]
synonym: "MPS IVB" RELATED [GARD:0003786]
synonym: "MPS4B" EXACT [Orphanet:309310]
synonym: "MPSIVB" EXACT [Orphanet:309310]
synonym: "mucopolysaccharidosis type IVB" EXACT [Orphanet:309310]
synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010]
synonym: "mucopolysaccharidosis, type IVB; MPS4B" RELATED [OMIM:253010]
xref: GARD:0003786 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:309310/attributed", source="ORDO:309310/ntbt", source="Orphanet:309310"}
xref: NCIT:C84902 {source="MONDO:kboom-pr-0.89/0.75/0.24", source="MONDO:equivalentTo"}
xref: OMIM:253010 {source="MONDO:equivalentTo", source="ORDO:309310/e", source="Orphanet:309310"}
xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"}
xref: SCTID:238044004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
xref: UMLS:C0086652 {source="NCIT:C84902", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309310/e", source="OMIM:253010", source="Orphanet:309310"}
is_a: MONDO:0018938 {source="MONDOLEX:0009660", source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/omim/253010
property_value: exactMatch http://identifiers.org/snomedct/238044004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086652
property_value: exactMatch NCIT:C84902
property_value: exactMatch Orphanet:309310

[Term]
id: MONDO:0009661
name: mucopolysaccharidosis type 6
def: "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." [Orphanet:583]
subset: ordo_disease {source="Orphanet:583"}
synonym: "ARSB deficiency" EXACT [Orphanet:583]
synonym: "Arsb deficiency" RELATED [OMIM:253200]
synonym: "arylsulfatase B deficiency" EXACT [CSP2005:1849-6512, DOID:12800, Orphanet:583]
synonym: "ASB deficiency" EXACT [Orphanet:583]
synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [DOID:12800]
synonym: "Maroteaux - Lamy syndrome" EXACT [DOID:12800]
synonym: "Maroteaux Lamy syndrome" RELATED [GARD:0007095]
synonym: "Maroteaux-Lamy disease" EXACT [Orphanet:583]
synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800, MTHICD9_2006:277.5]
synonym: "MPS 6" RELATED [OMIM:253200]
synonym: "MPS VI" RELATED [GARD:0007095]
synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [DOID:12800]
synonym: "MPS6" EXACT [MONDO:Lexical, OMIM:253200, Orphanet:583]
synonym: "MPSVI" EXACT [Orphanet:583]
synonym: "Mucopoly-saccharidosis type VI" RELATED [GARD:0007095]
synonym: "mucopolysaccharidosis type VI" EXACT [DOID:12800, MONDO:Lexical, MONDORULE:3, OMIM:253200, Orphanet:583]
synonym: "mucopolysaccharidosis type VI; MPS6" RELATED [OMIM:253200]
synonym: "mucopolysaccharidosis VI" RELATED [DOID:12800]
synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583]
synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200]
xref: DOID:12800 {source="MONDO:equivalentTo"}
xref: GARD:0007095 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:583/inclusion", source="ORDO:583/ntbt", source="Orphanet:583"}
xref: MedDRA:10056892 {source="ORDO:583/e", source="Orphanet:583"}
xref: MESH:D009087 {source="DOID:12800", source="MONDO:equivalentTo", source="ORDO:583/e", source="MONDO:ontobio", source="Orphanet:583"}
xref: NCIT:C61264 {source="DOID:12800", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:253200 {source="DOID:12800", source="MONDO:equivalentTo", source="ORDO:583/e", source="Orphanet:583"}
xref: Orphanet:583 {source="MONDO:equivalentTo", source="OMIM:253200"}
xref: SCTID:69463008 {source="DOID:12800", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0026709 {source="DOID:12800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253200", source="ORDO:583/e", source="NCIT:C61264", source="Orphanet:583"}
is_a: MONDO:0002254 {source="MONDOLEX:0009661", source="NCIT:C61264"} ! syndromic disease
is_a: MONDO:0019249 {source="DC-OMIM:253200", source="DOID:12800", source="MESH:D009087", source="MONDO:Redundant", source="NCIT:C61264", source="OMIM:253200", source="Orphanet:583", source="linkedlifedata"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:583"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020279 {source="Orphanet:583"} ! metabolic disease with corneal opacity
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/190936000
property_value: closeMatch http://identifiers.org/snomedct/52677002
property_value: exactMatch DOID:12800
property_value: exactMatch http://identifiers.org/meddra/10056892
property_value: exactMatch http://identifiers.org/mesh/D009087
property_value: exactMatch http://identifiers.org/omim/253200
property_value: exactMatch http://identifiers.org/snomedct/69463008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026709
property_value: exactMatch NCIT:C61264
property_value: exactMatch Orphanet:583

[Term]
id: MONDO:0009662
name: mucopolysaccharidosis type 7
def: "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." [Orphanet:584]
subset: ordo_disease {source="Orphanet:584"}
synonym: "Beta-glucuronidase deficiency" EXACT [Orphanet:584]
synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803]
synonym: "deficiency of beta-glucuronidase" EXACT [DOID:12803]
synonym: "Gus deficiency" RELATED []
synonym: "Gusb deficiency" RELATED [OMIM:253220]
synonym: "gusb deficiency" RELATED []
synonym: "MPS 7" RELATED [OMIM:253220]
synonym: "MPS VII" RELATED [GARD:0007096]
synonym: "MPS VII - mucopolysaccharidosis VII" RELATED []
synonym: "MPS VII - Sly syndrome" EXACT [DOID:12803]
synonym: "MPS7" EXACT [Orphanet:584]
synonym: "MPS7" RELATED [MONDO:Lexical, OMIM:253220]
synonym: "MPSVII" EXACT [Orphanet:584]
synonym: "mucopolysaccharidosis type VII" EXACT [Orphanet:584]
synonym: "mucopolysaccharidosis VII" EXACT [DOID:12803]
synonym: "mucopolysaccharidosis, mps-VII" EXACT []
synonym: "mucopolysaccharidosis, type 7" RELATED [OMIM:253220]
synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical, OMIM:253220]
synonym: "mucopolysaccharidosis, type VII; MPS7" RELATED [OMIM:253220]
synonym: "Sly disease" EXACT [Orphanet:584]
synonym: "Sly syndrome" EXACT [OMIM:253220]
xref: DOID:12803 {source="MONDO:equivalentTo"}
xref: GARD:0007096 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.2 {source="ORDO:584/inclusion", source="ORDO:584/ntbt", source="Orphanet:584"}
xref: ICD10:E76.29 {source="DOID:12803"}
xref: MedDRA:10056893 {source="ORDO:584/e", source="Orphanet:584"}
xref: MESH:D016538 {source="DOID:12803", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:584/e", source="Orphanet:584"}
xref: NCIT:C84903 {source="DOID:12803", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:253220 {source="DOID:12803", source="MONDO:equivalentTo", source="ORDO:584/e", source="Orphanet:584"}
xref: Orphanet:584 {source="MONDO:equivalentTo", source="OMIM:253220"}
xref: SCTID:43916004 {source="DOID:12803", source="MONDO:equivalentTo"}
xref: UMLS:C0085132 {source="DOID:12803", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253220", source="NCIT:C84903", source="ORDO:584/e", source="Orphanet:584"}
is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Redundant", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584", source="linkedlifedata"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:584"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124470009
property_value: exactMatch DOID:12803
property_value: exactMatch http://identifiers.org/meddra/10056893
property_value: exactMatch http://identifiers.org/mesh/D016538
property_value: exactMatch http://identifiers.org/omim/253220
property_value: exactMatch http://identifiers.org/snomedct/43916004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085132
property_value: exactMatch NCIT:C84903
property_value: exactMatch Orphanet:584

[Term]
id: MONDO:0009663
name: mucus inspissation of respiratory tract
synonym: "mucus inspissation of respiratory tract" EXACT [OMIM:253240]
xref: MESH:C565366 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253240 {source="MONDO:equivalentTo"}
xref: UMLS:C1854729 {source="OMIM:253240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565366
property_value: exactMatch http://identifiers.org/omim/253240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854729

[Term]
id: MONDO:0009664
name: mulibrey nanism
def: "MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations." [Orphanet:2576]
subset: gard_rare {source="GARD:0000095"}
subset: ordo_malformation_syndrome {source="Orphanet:2576"}
synonym: "mulibrey dwarfism" EXACT [Orphanet:2576]
synonym: "mulibrey nanism" EXACT [OMIM:253250]
synonym: "muscle-liver-brain-eye nanism" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576]
synonym: "Perheentupa syndrome" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576]
synonym: "pericardial constriction and Growth failure" RELATED [OMIM:253250]
synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436]
synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576]
xref: DOID:0050436 {source="MONDO:equivalentTo"}
xref: GARD:0000095 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:2576", source="ORDO:2576/attributed", source="ORDO:2576/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D050336 {source="ORDO:2576/e", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo"}
xref: NCIT:C84906 {source="DOID:0050436", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:253250 {source="ORDO:2576/e", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo"}
xref: Orphanet:2576 {source="OMIM:253250", source="MONDO:equivalentTo"}
xref: SCTID:81604003 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="DOID:0050436", source="MONDO:equivalentTo"}
xref: UMLS:C0524582 {source="ORDO:2576/e", source="NCBI:mim2gene_medline", source="OMIM:253250", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="NCIT:C84906"}
xref: UMLS:C2931895 {source="ORDO:2576/e", source="Orphanet:2576", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0009664", source="NCIT:C84906"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050436", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015329 {source="Orphanet:2576"} ! malformation syndrome with short stature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch DOID:0050436
property_value: exactMatch http://identifiers.org/mesh/C538604
property_value: exactMatch http://identifiers.org/mesh/D050336
property_value: exactMatch http://identifiers.org/omim/253250
property_value: exactMatch http://identifiers.org/snomedct/81604003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931895
property_value: exactMatch NCIT:C84906
property_value: exactMatch Orphanet:2576
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism xsd:anyURI {source="GARD:0000095"}

[Term]
id: MONDO:0009665
name: biotinidase deficiency
def: "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." [Orphanet:79241]
subset: ordo_disease {source="Orphanet:79241"}
synonym: "biotin deficiency" RELATED [GARD:0000894]
synonym: "biotinidase deficiency" EXACT [OMIM:253260]
synonym: "BTD deficiency" EXACT [DOID:856, Orphanet:79241]
synonym: "BTD deficiency" RELATED [OMIM:253260]
synonym: "deficiency of biotinidase" EXACT [DOID:856]
synonym: "juvenile-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241]
synonym: "late-onset biotin-responsive multiple carboxylase deficiency" RELATED [GARD:0000894]
synonym: "late-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241]
synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [OMIM:253260]
synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260]
xref: DOID:856 {source="MONDO:equivalentTo"}
xref: GARD:0000894 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D81.810 {source="DOID:856", source="MONDO:equivalentTo"}
xref: ICD10:E53.8 {source="ORDO:79241/attributed", source="ORDO:79241/ntbt", source="Orphanet:79241"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071434 {source="ORDO:79241/e", source="Orphanet:79241"}
xref: MESH:D028921 {source="DOID:856", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241"}
xref: NCIT:C84598 {source="DOID:856", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:253260 {source="DOID:856", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241"}
xref: Orphanet:79241 {source="OMIM:253260", source="MONDO:equivalentTo"}
xref: SCTID:8808004 {source="DOID:856", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.79"}
xref: UMLS:C0220754 {source="OMIM:253260", source="DOID:856", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241", source="NCIT:C84598"}
xref: UMLS:CN043572 {source="MONDO:equivalentTo"}
is_a: MONDO:0015454 {source="DOID:856", source="MESH:D028921", source="Orphanet:79241"} ! multiple carboxylase deficiency
is_a: MONDO:0016133 {source="Orphanet:79241"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017760 {source="Orphanet:79241"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: closeMatch http://identifiers.org/snomedct/124513002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854698
property_value: exactMatch DOID:856
property_value: exactMatch http://identifiers.org/meddra/10071434
property_value: exactMatch http://identifiers.org/mesh/D028921
property_value: exactMatch http://identifiers.org/omim/253260
property_value: exactMatch http://identifiers.org/snomedct/8808004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220754
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043572
property_value: exactMatch NCIT:C84598
property_value: exactMatch Orphanet:79241

[Term]
id: MONDO:0009666
name: holocarboxylase synthetase deficiency
def: "Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." [Orphanet:79242]
comment: May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200
subset: gard_rare {source="GARD:0002721"}
subset: ordo_disease {source="Orphanet:79242"}
synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [DOID:859]
synonym: "early-onset multiple carboxylase deficiency" EXACT [Orphanet:79242]
synonym: "HLCS deficiency" RELATED [OMIM:253270]
synonym: "holocarboxylase synthase deficiency" EXACT MISSPELLING []
synonym: "holocarboxylase synthetase deficiency" EXACT [NCIT:C98842, OMIM:253270]
synonym: "multiple carboxylase deficiency" BROAD [NCIT:C98842]
synonym: "multiple carboxylase deficiency - neonatal onset" EXACT [DOID:859]
synonym: "multiple carboxylase deficiency, early onset" RELATED [OMIM:253270]
synonym: "multiple carboxylase deficiency, neonatal form" RELATED [OMIM:253270]
synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet:79242]
xref: DOID:859 {source="MONDO:equivalentTo"}
xref: GARD:0002721 {source="MONDO:equivalentTo"}
xref: ICD10:D81.818 {source="DOID:859"}
xref: ICD10:E53.8 {source="ORDO:79242/attributed", source="ORDO:79242/ntbt", source="Orphanet:79242"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D028922 {source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="MONDO:ontobio", source="Orphanet:79242"}
xref: NCIT:C98842 {source="DOID:859", source="MONDO:equivalentTo"}
xref: OMIM:253270 {source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="Orphanet:79242"}
xref: Orphanet:79242 {source="OMIM:253270", source="MONDO:equivalentTo"}
xref: SCTID:15307001 {source="DOID:859", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.53"}
xref: SCTID:360369003 {source="DOID:859", source="MONDO:equivalentTo"}
xref: UMLS:C0268581 {source="OMIM:253270", source="NCBI:mim2gene_medline", source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="Orphanet:79242", source="NCIT:C98842"}
is_a: MONDO:0015454 {source="DOID:859", source="MESH:D028922", source="Orphanet:79242"} ! multiple carboxylase deficiency
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019242 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn disorder of branched-chain amino acid metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: closeMatch http://identifiers.org/snomedct/237956003
property_value: closeMatch http://identifiers.org/snomedct/360367001
property_value: closeMatch NCIT:C99247
property_value: exactMatch DOID:859
property_value: exactMatch http://identifiers.org/mesh/D028922
property_value: exactMatch http://identifiers.org/omim/253270
property_value: exactMatch http://identifiers.org/snomedct/15307001
property_value: exactMatch http://identifiers.org/snomedct/360369003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268581
property_value: exactMatch NCIT:C98842
property_value: exactMatch Orphanet:79242
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency xsd:anyURI {source="GARD:0002721"}

[Term]
id: MONDO:0009667
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126740]
synonym: "MDDGA3" RELATED [MONDO:Lexical, OMIM:253280]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" EXACT [NCIT:C126740]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical, OMIM:253280]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; MDDGA3" RELATED [OMIM:253280]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [OMIM:253280]
xref: NCIT:C126740 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.99"}
xref: OMIM:253280 {source="MONDO:equivalentTo"}
xref: UMLS:C3151519 {source="OMIM:253280", source="MONDO:equivalentTo", source="NCIT:C126740"}
is_a: MONDO:0000171 {source="OMIM:253280"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/253280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151519
property_value: exactMatch NCIT:C126740

[Term]
id: MONDO:0009668
name: lethal multiple pterygium syndrome
def: "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures , and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma , hydrops , diaphragmatic hernia , polyhydramnios , underdevelopment of the heart and lungs, microcephaly , bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG , CHRNA1 , and CHRND genes have been found to cause this condition." [GARD:0003834]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:33108"}
synonym: "autosomal recessive lethal multiple pterygium syndrome" EXACT [Orphanet:33108]
synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834]
synonym: "LMPS" EXACT [GARD:0003834, MONDO:Lexical, OMIM:253290, Orphanet:33108]
synonym: "multiple pterygium syndrome lethal type" RELATED [GARD:0003834]
synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM:253290]
synonym: "multiple pterygium syndrome, lethal type; LMPS" RELATED [OMIM:253290]
synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834]
synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290]
xref: GARD:0003834 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="Orphanet:33108", source="ORDO:33108/attributed", source="ORDO:33108/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C101038 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:253290 {source="ORDO:33108/e", source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo"}
xref: Orphanet:33108 {source="OMIM:253290", source="GARD:0003834", source="MONDO:equivalentTo"}
xref: SCTID:60192008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1854678 {source="OMIM:253290", source="ORDO:33108/e", source="Orphanet:33108", source="NCBI:mim2gene_medline", source="GARD:0003834", source="MONDO:equivalentTo", source="NCIT:C101038"}
is_a: MONDO:0015159 {source="Orphanet:33108"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017415 {source="DC-OMIM:253290", source="OMIM:253290", source="Orphanet:33108", source="linkedlifedata"} ! multiple pterygium syndrome
property_value: exactMatch http://identifiers.org/mesh/C537378
property_value: exactMatch http://identifiers.org/omim/253290
property_value: exactMatch http://identifiers.org/snomedct/60192008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854678
property_value: exactMatch NCIT:C101038
property_value: exactMatch Orphanet:33108
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type xsd:anyURI {source="GARD:0003834"}

[Term]
id: MONDO:0009669
name: Werdnig-Hoffmann disease
def: "Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83330]
subset: ordo_clinical_subtype {source="Orphanet:83330"}
synonym: "hereditary motor neuropathy proximal type I" EXACT [DOID:13137]
synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [DOID:13137]
synonym: "infantile muscular atrophy" EXACT [CSP2005:2057-3620, DOID:13137]
synonym: "infantile spinal muscular atrophy" EXACT [Orphanet:83330]
synonym: "muscular atrophy, infantile" RELATED [OMIM:253300]
synonym: "progressive muscular atrophy of infancy" EXACT [DOID:13137, MTHICD9_2006:335.0]
synonym: "proximal spinal muscular atrophy type 1" RELATED [Orphanet:83330]
synonym: "proximal spinal muscular atrophy, type 1" RELATED [GARD:0007883]
synonym: "severe infantile spinal muscular atrophy" EXACT [NCIT:C98670]
synonym: "Sma 1" RELATED [OMIM:253300]
synonym: "SMA type 1" EXACT [Orphanet:83330]
synonym: "SMA type I" EXACT [Orphanet:83330]
synonym: "Sma, infantile acute form" RELATED [OMIM:253300]
synonym: "SMA-I" EXACT [Orphanet:83330]
synonym: "SMA1" EXACT [MONDO:Lexical, OMIM:253300, Orphanet:83330]
synonym: "spinal muscular atrophies of childhood" EXACT [DOID:0060160]
synonym: "spinal muscular atrophy 1" RELATED [GARD:0007883]
synonym: "spinal muscular atrophy, type 1" RELATED [OMIM:253300]
synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical, OMIM:253300]
synonym: "spinal muscular atrophy, type I; SMA1" RELATED [OMIM:253300]
synonym: "survival motor neuron spinal muscular atrophy" EXACT [MONDO:0000689]
synonym: "Werdnig Hoffmann disease" RELATED [GARD:0007883]
synonym: "Werdnig-Hoffman disease" RELATED [DOID:13137]
synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330]
xref: COHD:372616 {source="MONDO:equivalentTo"}
xref: DOID:0060160 {source="MONDO:equivalentTo"}
xref: DOID:13137 {source="MONDO:equivalentTo"}
xref: GARD:0007883 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.0 {source="Orphanet:83330", source="ORDO:83330/specific", source="DOID:0060160", source="DOID:13137", source="ORDO:83330/e"}
xref: ICD9:335.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060160", source="DOID:13137"}
xref: ICD9:335.11 {source="MONDO:superClassOf", source="DOID:0060160"}
xref: NCIT:C98670 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0060160", source="DOID:13137"}
xref: OMIM:253300 {source="Orphanet:83330", source="MONDO:equivalentTo", source="DOID:13137", source="ORDO:83330/e"}
xref: Orphanet:83330 {source="MONDO:equivalentTo", source="OMIM:253300"}
xref: SCTID:64383006 {source="MONDO:equivalentTo", source="DOID:0060160", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13137"}
is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy
property_value: closeMatch http://identifiers.org/mesh/D014897
property_value: closeMatch http://identifiers.org/snomedct/155016008
property_value: closeMatch http://identifiers.org/snomedct/267694009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043116
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393538
property_value: closeMatch NCIT:C85076
property_value: exactMatch DOID:0060160
property_value: exactMatch DOID:13137
property_value: exactMatch http://identifiers.org/omim/253300
property_value: exactMatch http://identifiers.org/snomedct/64383006
property_value: exactMatch NCIT:C98670
property_value: exactMatch Orphanet:83330

[Term]
id: MONDO:0009670
name: lethal congenital contracture syndrome 1
def: "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." [Orphanet:1486]
subset: ordo_malformation_syndrome {source="Orphanet:1486"}
synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Herva disease" EXACT [Orphanet:1486]
synonym: "Lccs" RELATED [OMIM:253310]
synonym: "LCCS1" EXACT [DOID:0060559, MONDO:Lexical, OMIM:253310, Orphanet:1486]
synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" RELATED [GARD:0003227]
synonym: "lethal congenital contracture syndrome 1" EXACT [MONDO:Lexical, OMIM:253310]
synonym: "lethal congenital contracture syndrome 1; LCCS1" RELATED [OMIM:253310]
synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310]
synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486]
xref: DOID:0060559 {source="MONDO:equivalentTo"}
xref: GARD:0003227 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q68.8 {source="Orphanet:1486", source="ORDO:1486/attributed", source="ORDO:1486/ntbt"}
xref: MESH:C537194 {source="Orphanet:1486", source="ORDO:1486/e", source="MONDO:equivalentTo", source="DOID:0060559", source="MONDO:ontobio"}
xref: OMIM:253310 {source="Orphanet:1486", source="ORDO:1486/e", source="MONDO:equivalentTo", source="DOID:0060559"}
xref: Orphanet:1486 {source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"}
xref: SCTID:715418007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1854664 {source="Orphanet:1486", source="MEDGEN:kboom-pr97-c99", source="ORDO:1486/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"}
is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:1486"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015929 {source="Orphanet:1486"} ! thoracic malformation
is_a: MONDO:0017436 {source="DC-OMIM:253310", source="DOID:0060559", source="MONDO:Redundant", source="OMIM:253310", source="Orphanet:1486"} ! lethal congenital contracture syndrome
is_a: MONDO:0043008 {source="Orphanet:1486"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1486"} ! non-syndromic respiratory or mediastinal malformation
property_value: exactMatch DOID:0060559
property_value: exactMatch http://identifiers.org/mesh/C537194
property_value: exactMatch http://identifiers.org/omim/253310
property_value: exactMatch http://identifiers.org/snomedct/715418007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854664
property_value: exactMatch Orphanet:1486

[Term]
id: MONDO:0009671
name: intellectual disability-myopathy-short stature-endocrine defect syndrome
def: "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." [Orphanet:3068]
subset: ordo_disease {source="Orphanet:3068"}
synonym: "Chudley Rozdilsky syndrome" RELATED [GARD:0001358]
synonym: "Chudley syndrome" RELATED [OMIM:253320]
synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068]
synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320]
xref: GARD:0001358 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3068", source="ORDO:3068/attributed", source="ORDO:3068/ntbt"}
xref: MESH:C535458 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253320 {source="Orphanet:3068", source="ORDO:3068/e", source="MONDO:equivalentTo"}
xref: Orphanet:3068 {source="MONDO:equivalentTo", source="OMIM:253320"}
xref: SCTID:764959000 {source="MONDO:equivalentTo"}
xref: UMLS:C1854663 {source="Orphanet:3068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253320", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:3068"} ! syndromic intellectual disability
is_a: MONDO:0019952 {source="Orphanet:3068"} ! congenital myopathy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535458
property_value: exactMatch http://identifiers.org/omim/253320
property_value: exactMatch http://identifiers.org/snomedct/764959000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854663
property_value: exactMatch Orphanet:3068

[Term]
id: MONDO:0009672
name: juvenile spinal muscular atrophy
def: "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83419]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:83419"}
synonym: "childhood spinal muscular atrophy" EXACT [MONDO:design_pattern]
synonym: "juvenile spinal muscular atrophy" EXACT [Orphanet:83419]
synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM_2006:335.11, Orphanet:83419]
synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400]
synonym: "KWS" RELATED [GARD:0000198]
synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400]
synonym: "pediatric spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric spinal muscular atrophy" RELATED [MONDO:patterns/childhood]
synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419]
synonym: "SMA 3" RELATED [GARD:0000198]
synonym: "Sma 3" RELATED [OMIM:253400]
synonym: "SMA type 3" EXACT [Orphanet:83419]
synonym: "SMA type III" EXACT [Orphanet:83419]
synonym: "SMA-III" EXACT [Orphanet:83419]
synonym: "SMA3" EXACT [DOID:12376, GARD:0000198, MONDO:Lexical, OMIM:253400, Orphanet:83419]
synonym: "spinal muscular atrophy III" EXACT [NCIT:C118847]
synonym: "spinal muscular atrophy of childhood" EXACT [DOID:12376, MONDO:patterns/childhood]
synonym: "spinal muscular atrophy type 3" EXACT [NCIT:C118847]
synonym: "spinal muscular atrophy, familial" EXACT [DOID:12376, MTHICD9_2006:335.11]
synonym: "spinal muscular atrophy, mild childhood and adolescent form" RELATED [GARD:0000198, OMIM:253400]
synonym: "spinal muscular atrophy, type 3" RELATED [OMIM:253400]
synonym: "spinal muscular atrophy, type III" RELATED [MONDO:Lexical, OMIM:253400]
synonym: "spinal muscular atrophy, type III; SMA3" RELATED [OMIM:253400]
synonym: "type III spinal muscular atrophy" EXACT [DOID:12376]
xref: COHD:374634 {source="MONDO:equivalentTo"}
xref: DOID:12376 {source="MONDO:equivalentTo"}
xref: GARD:0000198 {source="MONDO:equivalentTo"}
xref: ICD10:G12.1 {source="ORDO:83419/inclusion", source="ORDO:83419/ntbt", source="Orphanet:83419"}
xref: ICD9:335.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:12376"}
xref: NCIT:C118847 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:12376"}
xref: OMIM:253400 {source="GARD:0000198", source="MONDO:equivalentTo", source="ORDO:83419/e", source="Orphanet:83419", source="DOID:12376"}
xref: Orphanet:83419 {source="GARD:0000198", source="MONDO:equivalentTo", source="OMIM:253400"}
xref: SCTID:54280009 {source="MONDO:equivalentTo", source="DOID:12376", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152109 {source="GARD:0000198", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118847", source="OMIM:253400", source="Orphanet:83419", source="DOID:12376"}
xref: UMLS:C0700595 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:12376"}
is_a: MONDO:0009669 {source="DOID:12376", source="MONDOLEX:0009672"} ! Werdnig-Hoffmann disease
property_value: closeMatch http://identifiers.org/mesh/D014897
property_value: closeMatch NCIT:C85076
property_value: exactMatch DOID:12376
property_value: exactMatch http://identifiers.org/omim/253400
property_value: exactMatch http://identifiers.org/snomedct/54280009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700595
property_value: exactMatch NCIT:C118847
property_value: exactMatch Orphanet:83419

[Term]
id: MONDO:0009673
name: intermediate spinal muscular atrophy
def: "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83418]
subset: ordo_clinical_subtype {source="Orphanet:83418"}
synonym: "chronic infantile spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "chronic spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "Dubowitz disease" RELATED [GARD:0004945]
synonym: "Intermediate spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "muscular atrophy, spinal, infantile chronic form" EXACT [DOID:0050530, OMIM:253550]
synonym: "muscular atrophy, spinal, Intermediate type" RELATED [OMIM:253550]
synonym: "muscular atrophy, spinal, intermediate type" EXACT [DOID:0050530]
synonym: "proximal spinal muscular atrophy type 2" RELATED [Orphanet:83418]
synonym: "Sma 2" RELATED [OMIM:253550]
synonym: "SMA II" RELATED [GARD:0004945]
synonym: "SMA type 2" EXACT [Orphanet:83418]
synonym: "SMA type II" EXACT [Orphanet:83418]
synonym: "SMA-II" EXACT [Orphanet:83418]
synonym: "SMA2" EXACT [MONDO:Lexical, OMIM:253550, Orphanet:83418]
synonym: "spinal muscular atrophy type 2" RELATED [GARD:0004945]
synonym: "spinal muscular atrophy type II" RELATED [GARD:0004945]
synonym: "spinal muscular atrophy, type 2" RELATED [OMIM:253550]
synonym: "spinal muscular atrophy, type II" RELATED [MONDO:Lexical, OMIM:253550]
synonym: "spinal muscular atrophy, type II; SMA2" RELATED [OMIM:253550]
xref: DOID:0050530 {source="MONDO:equivalentTo"}
xref: GARD:0004945 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.1 {source="ORDO:83418/inclusion", source="ORDO:83418/ntbt", source="Orphanet:83418"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536879 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253550 {source="DOID:0050530", source="MONDO:equivalentTo", source="ORDO:83418/e", source="Orphanet:83418"}
xref: Orphanet:83418 {source="MONDO:equivalentTo", source="OMIM:253550"}
xref: SCTID:128212001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
is_a: MONDO:0009669 {source="DOID:0050530", source="MONDOLEX:0009673"} ! Werdnig-Hoffmann disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393538
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931358
property_value: exactMatch DOID:0050530
property_value: exactMatch http://identifiers.org/mesh/C536879
property_value: exactMatch http://identifiers.org/omim/253550
property_value: exactMatch http://identifiers.org/snomedct/128212001
property_value: exactMatch Orphanet:83418

[Term]
id: MONDO:0009674
name: muscular dystrophy, adult-onset, with leukoencephalopathy
synonym: "muscular dystrophy, adult-onset, with leukoencephalopathy" EXACT [OMIM:253590]
xref: MESH:C565361 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253590 {source="MONDO:equivalentTo"}
xref: UMLS:C1854646 {source="OMIM:253590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565361/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565361
property_value: exactMatch http://identifiers.org/omim/253590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854646

[Term]
id: MONDO:0009675
name: autosomal recessive limb-girdle muscular dystrophy type 2A
def: "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." [Orphanet:267]
subset: ordo_disease {source="Orphanet:267"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern]
synonym: "calpainopathy" EXACT [OMIM:253600]
synonym: "CAPN3 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275]
synonym: "LGMD2" RELATED [GARD:0001057]
synonym: "LGMD2A" EXACT [DOID:0110275, MONDO:Lexical, OMIM:253600, Orphanet:267]
synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [DOID:0110275, Orphanet:267]
synonym: "limb-girdle muscular dystrophy type 2" RELATED [GARD:0001057]
synonym: "limb-girdle muscular dystrophy type 2A" EXACT [NCIT:C142079]
synonym: "muscular dystrophy limb girdle type 2A, erb type" RELATED [GARD:0003845]
synonym: "muscular dystrophy, limb-girdle, type 2" RELATED [OMIM:253600]
synonym: "muscular dystrophy, limb-girdle, type 2A" EXACT [DOID:0110275, MONDO:Lexical, OMIM:253600]
synonym: "muscular dystrophy, limb-girdle, type 2A; LGMD2A" RELATED [OMIM:253600]
synonym: "muscular dystrophy, Pelvofemoral" RELATED [OMIM:253600]
synonym: "myositis, eosinophilic" RELATED [OMIM:253600]
synonym: "pelvofemoral muscular dystrophy" EXACT [DOID:0110275]
synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267]
xref: DOID:0110275 {source="MONDO:equivalentTo"}
xref: GARD:0001057 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0003845 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110275", source="ORDO:267/attributed", source="ORDO:267/ntbt", source="Orphanet:267"}
xref: MESH:C535895 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142079 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:253600 {source="MONDO:equivalentTo", source="DOID:0110275", source="ORDO:267/e", source="Orphanet:267"}
xref: Orphanet:267 {source="MONDO:equivalentTo", source="DOID:0110275", source="OMIM:253600"}
xref: SCTID:715341003 {source="MONDO:kboom-pr-0.72/0.43/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="DOID:0110275", source="MONDO:Redundant", source="MONDOLEX:0009675", source="OMIM:253600", source="Orphanet:267"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016152 {source="Orphanet:267"} ! qualitative or quantitative defects of calpain
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1299884
property_value: exactMatch DOID:0110275
property_value: exactMatch http://identifiers.org/mesh/C535895
property_value: exactMatch http://identifiers.org/omim/253600
property_value: exactMatch http://identifiers.org/snomedct/715341003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1869123
property_value: exactMatch NCIT:C142079
property_value: exactMatch Orphanet:267

[Term]
id: MONDO:0009676
name: autosomal recessive limb-girdle muscular dystrophy type 2B
def: "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." [Orphanet:268]
subset: ordo_disease {source="Orphanet:268"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern]
synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2B" EXACT [DOID:0110276, MONDO:Lexical, OMIM:253601, Orphanet:268]
synonym: "LGMD3" EXACT [DOID:0110276]
synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [DOID:0110276, Orphanet:268]
synonym: "limb-girdle muscular dystrophy type 2B" EXACT [NCIT:C142080]
synonym: "limb-girdle muscular dystrophy type 3" EXACT [DOID:0110276]
synonym: "limb-girdle muscular dystrophy, type 2B" RELATED [GARD:0008574]
synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM:253601]
synonym: "muscular dystrophy, limb-girdle, type 2B; LGMD2B" RELATED [OMIM:253601]
synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601]
xref: DOID:0110276 {source="MONDO:equivalentTo"}
xref: GARD:0008574 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:268", source="ORDO:268/inclusion", source="DOID:0110276", source="ORDO:268/ntbt"}
xref: MESH:C535899 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142080 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:253601 {source="Orphanet:268", source="MONDO:equivalentTo", source="ORDO:268/e", source="DOID:0110276"}
xref: Orphanet:268 {source="MONDO:equivalentTo", source="DOID:0110276", source="OMIM:253601"}
xref: SCTID:718179003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0015152 {source="DOID:0110276", source="MONDO:Redundant", source="MONDOLEX:0009676", source="OMIM:253601", source="Orphanet:268"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016145 {source="Orphanet:268"} ! qualitative or quantitative defects of dysferlin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850889
property_value: exactMatch DOID:0110276
property_value: exactMatch http://identifiers.org/mesh/C535899
property_value: exactMatch http://identifiers.org/omim/253601
property_value: exactMatch http://identifiers.org/snomedct/718179003
property_value: exactMatch NCIT:C142080
property_value: exactMatch Orphanet:268

[Term]
id: MONDO:0009677
name: autosomal recessive limb-girdle muscular dystrophy type 2C
def: "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." [Orphanet:353]
subset: ordo_disease {source="Orphanet:353"}
synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700]
synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" EXACT [MONDO:design_pattern]
synonym: "deficiency of sarcoglycan gamma" EXACT [DOID:0110277]
synonym: "Dmda" RELATED [OMIM:253700]
synonym: "DMDA1" EXACT [DOID:0110277]
synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" RELATED [OMIM:253700]
synonym: "gamma-sarcoglycanopathy" EXACT [DOID:0110277, Orphanet:353]
synonym: "LGMD2C" EXACT [DOID:0110277, MONDO:Lexical, OMIM:253700, Orphanet:353]
synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [DOID:0110277, Orphanet:353]
synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" RELATED [GARD:0002429]
synonym: "limb-girdle muscular dystrophy, type 2C" RELATED [GARD:0002429]
synonym: "Maghrebian myopathy" EXACT [DOID:0110277]
synonym: "muscular dystrophy, Duchenne-like" RELATED [OMIM:253700]
synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [DOID:0110277, MONDO:Lexical, OMIM:253700]
synonym: "muscular dystrophy, limb-girdle, type 2C; LGMD2C" RELATED [OMIM:253700]
synonym: "sarcoglycan, gamma, deficiency of" RELATED [OMIM:253700]
synonym: "SCARMD" EXACT [DOID:0110277]
synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [DOID:0110277]
synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700]
synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110277 {source="MONDO:equivalentTo"}
xref: GARD:0002429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:353/inclusion", source="ORDO:353/ntbt", source="DOID:0110277", source="Orphanet:353"}
xref: MESH:C535900 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253700 {source="MONDO:equivalentTo", source="ORDO:353/e", source="DOID:0110277", source="Orphanet:353"}
xref: Orphanet:353 {source="MONDO:equivalentTo", source="DOID:0110277", source="OMIM:253700"}
xref: UMLS:C0410173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:353", source="OMIM:253700"}
is_a: MONDO:0015152 {source="DOID:0110277", source="MONDO:Redundant", source="MONDOLEX:0009677", source="OMIM:253700", source="Orphanet:353"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016143 {source="MONDOLEX:0009677", source="Orphanet:353"} ! qualitative or quantitative defects of gamma-sarcoglycan
is_a: MONDO:0016334 {source="Orphanet:353"} ! neuromuscular disease with dilated cardiomyopathy
property_value: exactMatch DOID:0110277
property_value: exactMatch http://identifiers.org/mesh/C535900
property_value: exactMatch http://identifiers.org/omim/253700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410173
property_value: exactMatch Orphanet:353

[Term]
id: MONDO:0009678
name: Fukuyama congenital muscular dystrophy
def: "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." [Orphanet:272]
subset: ordo_disease {source="Orphanet:272"}
synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [Orphanet:272]
synonym: "FCMD" EXACT [Orphanet:272]
synonym: "Fukuyama congenital muscular dystrophy" EXACT [OMIM:253800, Orphanet:272]
synonym: "MDDGA4" RELATED [MONDO:Lexical, OMIM:253800]
synonym: "muscular dystrophy-dystroglycanopathy (Congenital with Brain and eye anomalies) type A, 4" EXACT [NCIT:C126741]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" RELATED [MONDO:Lexical, OMIM:253800]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4" RELATED [OMIM:253800]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Fktn-related" RELATED [OMIM:253800]
xref: DOID:0050559 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:272/attributed", source="ORDO:272/ntbt", source="Orphanet:272"}
xref: NCIT:C126741 {source="MONDO:equivalentTo"}
xref: OMIM:253800 {source="ORDO:272/ntbt", source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272"}
xref: Orphanet:272 {source="MONDO:equivalentTo", source="DOID:0050559", source="OMIM:253800"}
xref: SCTID:111502003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0410174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:272/e", source="Orphanet:272", source="OMIM:253800"}
is_a: MONDO:0000171 {source="OMIM:253800"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="OMIM:253800", source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch DOID:0050559
property_value: exactMatch http://identifiers.org/omim/253800
property_value: exactMatch http://identifiers.org/snomedct/111502003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410174
property_value: exactMatch NCIT:C126741
property_value: exactMatch Orphanet:272

[Term]
id: MONDO:0009679
name: arthrogryposis due to muscular dystrophy
subset: gard_rare {source="GARD:0000779"}
subset: ordo_disease {source="Orphanet:1155"}
synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:0110631]
synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900]
xref: DOID:0110631 {source="MONDO:equivalentTo"}
xref: GARD:0000779 {source="MONDO:equivalentTo"}
xref: ICD10:M62.8 {source="Orphanet:1155", source="ORDO:1155/attributed", source="ORDO:1155/ntbt", source="DOID:0110631"}
xref: MESH:C564985 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:253900 {source="ORDO:1155/e", source="Orphanet:1155", source="MONDO:equivalentTo", source="DOID:0110631"}
xref: Orphanet:1155 {source="OMIM:253900", source="MONDO:equivalentTo", source="DOID:0110631"}
xref: UMLS:C1850865 {source="OMIM:253900", source="Orphanet:1155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:1155"} ! arthrogryposis multiplex congenita
is_a: MONDO:0019950 {source="DOID:0110631", source="MONDOLEX:0009679", source="Orphanet:1155"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0110631
property_value: exactMatch http://identifiers.org/mesh/C564985
property_value: exactMatch http://identifiers.org/omim/253900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850865
property_value: exactMatch Orphanet:1155
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy xsd:anyURI {source="GARD:0000779"}

[Term]
id: MONDO:0009680
name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
def: "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." [Orphanet:1875]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1875"}
synonym: "Bassoe syndrome" EXACT [Orphanet:1875]
synonym: "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract" RELATED [GARD:0000835]
synonym: "familial congenital muscular dystrophy with gonadal dysgenesis" RELATED [GARD:0003842]
synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadism" RELATED [GARD:0003842]
synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000]
xref: GARD:0000835 {source="MONDO:equivalentTo"}
xref: GARD:0003842 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="ORDO:1875/e"}
xref: Orphanet:1875 {source="MONDO:equivalentTo", source="OMIM:254000"}
xref: UMLS:C1850864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1875", source="OMIM:254000", source="ORDO:1875/e", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2931578 {source="MONDO:equivalentTo", source="Orphanet:1875", source="ORDO:1875/e", source="GARD:0000835", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019950 {source="MONDOLEX:0009680", source="Orphanet:1875"} ! congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/254000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931578
property_value: exactMatch Orphanet:1875

[Term]
id: MONDO:0009681
name: Ullrich congenital muscular dystrophy 1
synonym: "muscular dystrophy, Scleroatonic" RELATED [OMIM:254090]
synonym: "UCMD1" RELATED [MONDO:Lexical, OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy" RELATED [OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy 1; UCMD1" RELATED [OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:254090]
synonym: "Ullrich disease" RELATED [OMIM:254090]
synonym: "Ullrich Scleroatonic muscular dystrophy" RELATED [OMIM:254090]
xref: OMIM:254090 {source="Orphanet:75840", source="MONDO:equivalentTo"}
xref: UMLS:CN033863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000355 {source="DC-OMIM:254090", source="MONDOLEX:0009681", source="OMIM:254090"} ! Ullrich congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/254090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033863

[Term]
id: MONDO:0009682
name: muscular dystrophy, congenital, with rapid progression
synonym: "muscular dystrophy, congenital, with rapid progression" EXACT [OMIM:254100]
xref: MESH:C564983 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254100 {source="MONDO:equivalentTo"}
xref: UMLS:C1850840 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254100"}
is_a: MONDO:0019950 ! congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C564983
property_value: exactMatch http://identifiers.org/omim/254100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850840

[Term]
id: MONDO:0009683
name: autosomal recessive limb-girdle muscular dystrophy type 2H
def: "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." [Orphanet:1878]
subset: ordo_disease {source="Orphanet:1878"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern]
synonym: "LGMD2H" EXACT [DOID:0110282, MONDO:Lexical, OMIM:254110, Orphanet:1878]
synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [DOID:0110282, Orphanet:1878]
synonym: "limb-girdle muscular dystrophy type 2H" RELATED [GARD:0003844]
synonym: "muscular dystrophy Hutterite type" EXACT [DOID:0110282]
synonym: "muscular dystrophy limb-girdle type 2H" RELATED [GARD:0003844]
synonym: "muscular dystrophy, Hutterite type" RELATED [OMIM:254110]
synonym: "muscular dystrophy, limb-girdle, type 2H" RELATED [MONDO:Lexical, OMIM:254110]
synonym: "muscular dystrophy, limb-girdle, type 2H; LGMD2H" RELATED [OMIM:254110]
synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878]
synonym: "sarcotubular myopathy" EXACT [DOID:0110282]
synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110282 {source="MONDO:equivalentTo"}
xref: GARD:0003844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:1878/inclusion", source="ORDO:1878/ntbt", source="DOID:0110282", source="Orphanet:1878"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535897 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254110 {source="DOID:0110282", source="MONDO:equivalentTo", source="ORDO:1878/e", source="Orphanet:1878"}
xref: Orphanet:1878 {source="DOID:0110282", source="MONDO:equivalentTo", source="OMIM:254110"}
xref: SCTID:43226001 {source="MONDO:kboom-pr-0.92/0.83/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0270968 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254110", source="Orphanet:1878"}
is_a: MONDO:0015152 {source="DOID:0110282", source="MONDO:Redundant", source="MONDOLEX:0009683", source="OMIM:254110", source="Orphanet:1878"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016153 {source="Orphanet:1878"} ! qualitative or quantitative defects of TRIM32
property_value: exactMatch DOID:0110282
property_value: exactMatch http://identifiers.org/mesh/C535897
property_value: exactMatch http://identifiers.org/omim/254110
property_value: exactMatch http://identifiers.org/snomedct/43226001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270968
property_value: exactMatch Orphanet:1878

[Term]
id: MONDO:0009684
name: muscular hypertonia, lethal
synonym: "muscular hypertonia, lethal" EXACT [OMIM:254120]
xref: MESH:C564982 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254120 {source="MONDO:equivalentTo"}
xref: UMLS:C1850827 {source="OMIM:254120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564982
property_value: exactMatch http://identifiers.org/omim/254120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850827

[Term]
id: MONDO:0009685
name: Miyoshi myopathy
def: "Miyoshi myopathy (MM) is a distal myopathy (see this term), characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." [Orphanet:45448]
comment: Editor note: consider splitting out type 1
subset: gard_rare {source="GARD:0009676"}
subset: ordo_disease {source="Orphanet:45448"}
subset: prototype_pattern
synonym: "Miyoshi distal myopathy" RELATED [GARD:0009676]
synonym: "Miyoshi muscular dystrophy" EXACT [DOID:0070198]
synonym: "Miyoshi muscular dystrophy 1" RELATED [MONDO:Lexical, OMIM:254130]
synonym: "Miyoshi muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:254130]
synonym: "MM" RELATED [GARD:0009676]
synonym: "MMD1" RELATED [MONDO:Lexical, OMIM:254130]
synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676]
xref: DOID:0070198 {source="MONDO:equivalentTo"}
xref: GARD:0009676 {source="DOID:0070198", source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:45448", source="ORDO:45448/attributed", source="ORDO:45448/ntbt"}
xref: MESH:C537480 {source="ORDO:45448/e", source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118846 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
xref: OMIMPS:254130 {source="DOID:0070198", source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ORDO:45448 {source="DOID:0070198"}
xref: Orphanet:45448 {source="OMIM:254130", source="MONDO:equivalentTo"}
is_a: MONDO:0016109 {source="Orphanet:45448"} ! autosomal recessive distal myopathy
is_a: MONDO:0016145 {source="Orphanet:45448"} ! qualitative or quantitative defects of dysferlin
property_value: exactMatch DOID:0070198
property_value: exactMatch http://identifiers.org/mesh/C537480
property_value: exactMatch NCIT:C118846
property_value: exactMatch Orphanet:45448
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy xsd:anyURI {source="GARD:0009676"}

[Term]
id: MONDO:0009686
name: musk, inability to smell
synonym: "musk, inability to smell" EXACT [OMIM:254150]
xref: MESH:C564980 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254150 {source="MONDO:equivalentTo"}
xref: UMLS:C1850807 {source="OMIM:254150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564980
property_value: exactMatch http://identifiers.org/omim/254150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850807

[Term]
id: MONDO:0009687
name: myasthenia, congenital, refractory to acetylcholinesterase inhibitors
synonym: "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" EXACT [OMIM:254190]
xref: MESH:C564979 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254190 {source="MONDO:equivalentTo"}
xref: UMLS:C1850806 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254190"}
is_a: MONDO:0018940 {source="MESH:C564979"} ! congenital myasthenic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564979
property_value: exactMatch http://identifiers.org/omim/254190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850806

[Term]
id: MONDO:0009688
name: myasthenia gravis
def: "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." [Orphanet:589]
subset: gard_rare {source="GARD:0007122"}
subset: ordo_disease {source="Orphanet:589"}
synonym: "acquired myasthenia" EXACT [Orphanet:589]
synonym: "autoimmune myasthenia gravis" EXACT [Orphanet:589]
synonym: "MG" RELATED [MONDO:Lexical, OMIM:254200]
synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200]
synonym: "myasthenia gravis; MG" RELATED [OMIM:254200]
xref: COHD:76685 {source="MONDO:equivalentTo"}
xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"}
xref: EFO:0004991 {source="MONDO:equivalentTo"}
xref: GARD:0007122 {source="MONDO:equivalentTo"}
xref: ICD10:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="ORDO:589/e"}
xref: ICD10:G70.00 {source="DOID:437"}
xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:358.00 {source="DOID:437", source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10028417 {source="Orphanet:589", source="ORDO:589/e"}
xref: MESH:D009157 {source="EFO:0004991", source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:589/e"}
xref: NCIT:C60989 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:254200 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="ORDO:589/e"}
xref: Orphanet:589 {source="MONDO:equivalentTo", source="OMIM:254200"}
xref: SCTID:91637004 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0026896 {source="DOID:437", source="Orphanet:589", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C60989", source="OMIM:254200", source="ORDO:589/e"}
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0018743 {source="Orphanet:589"} ! immune-mediated acquired neuromuscular junction disease
is_a: MONDO:0021016 ! channelopathy
is_a: MONDO:0044977 ! disease of receptor activity
is_a: MONDO:0044980 ! disease of signal transduction
property_value: closeMatch http://identifiers.org/snomedct/155092009
property_value: closeMatch http://identifiers.org/snomedct/193208002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1260409
property_value: exactMatch DOID:437
property_value: exactMatch http://identifiers.org/meddra/10028417
property_value: exactMatch http://identifiers.org/mesh/D009157
property_value: exactMatch http://identifiers.org/omim/254200
property_value: exactMatch http://identifiers.org/snomedct/91637004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026896
property_value: exactMatch NCIT:C60989
property_value: exactMatch Orphanet:589
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis xsd:anyURI {source="GARD:0007122"}

[Term]
id: MONDO:0009689
name: congenital myasthenic syndrome 6
def: "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." [NCIT:C132292]
subset: gard_rare
synonym: "CHAT congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS Ia2" EXACT [DOID:0110671]
synonym: "Cms Ia2" RELATED [OMIM:254210]
synonym: "CMS Ia2, formerly" RELATED [MESH:C535759]
synonym: "Cms Ia2, formerly" RELATED [OMIM:254210]
synonym: "CMS w/episodic apnea" RELATED [GARD:0009689]
synonym: "CMS-ea" RELATED [GARD:0009689]
synonym: "CMS1A" RELATED [GARD:0009689]
synonym: "CMS1A2" EXACT [DOID:0110671]
synonym: "CMS1A2, formerly" RELATED [MESH:C535759]
synonym: "CMS6" EXACT [DOID:0110671]
synonym: "CMSEA" EXACT [DOID:0110671]
synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [DOID:0110671]
synonym: "congenital myasthenic syndrome caused by mutation in CHAT" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 1a" RELATED [GARD:0009689, MESH:C535759]
synonym: "congenital myasthenic syndrome type 6" EXACT [DOID:0110671, MONDORULE:1]
synonym: "congenital myasthenic syndrome type Ia" RELATED [MESH:C535759]
synonym: "congenital myasthenic syndrome type Ia2" EXACT [DOID:0110671, OMIM:254210]
synonym: "congenital myasthenic syndrome type Ia2, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "congenital myasthenic syndrome with episodic apnea" RELATED [GARD:0009689]
synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [DOID:0110671]
synonym: "familial infantile myasthenia" EXACT [DOID:0110671]
synonym: "familial infantile myasthenia gravis 2" EXACT [DOID:0110671]
synonym: "FIM" EXACT [DOID:0110671, GARD:0009689]
synonym: "FIM, formerly" RELATED [MESH:C535759]
synonym: "FIMG2" EXACT [DOID:0110671]
synonym: "FIMG2 (formerly)" RELATED [GARD:0009689]
synonym: "FIMG2, formerly" RELATED [MESH:C535759]
synonym: "myasthenia familial infantile" RELATED [GARD:0009689, MESH:C535759]
synonym: "myasthenia gravis familial infantile 2 (formerly)" RELATED [GARD:0009689]
synonym: "myasthenia gravis, familial infantile, 2" RELATED [OMIM:254210]
synonym: "myasthenia gravis, familial infantile, 2, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenia, familial infantile" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenia, familial infantile, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenic syndrome congenital associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759]
synonym: "myasthenic syndrome, congenital, 6, presynaptic" RELATED [MESH:C535759, MONDO:Lexical, OMIM:254210]
synonym: "myasthenic syndrome, congenital, 6, presynaptic; CMS6" RELATED [OMIM:254210]
synonym: "myasthenic syndrome, congenital, associated with episodic apnea" RELATED [MESH:C535759]
synonym: "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759, OMIM:254210]
synonym: "presynaptic congenital myasthenic syndrome 6" EXACT [NCIT:C132292]
xref: DOID:0110671 {source="MONDO:equivalentTo"}
xref: GARD:0009689 {source="MONDO:equivalentTo"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535759 {source="MONDO:equivalentTo"}
xref: NCIT:C132292 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.23"}
xref: OMIM:254210 {source="MONDO:equivalentTo", source="DOID:0110671", source="GARD:0009689"}
xref: SCTID:230670003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0393929 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C132292", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254210", source="GARD:0009689"}
is_a: MONDO:0009688 {source="MESH:C535759", source="linkedlifedata", source="linkedlifedata/inferred"} ! myasthenia gravis
is_a: MONDO:0020345 {source="MONDOLEX:0009689", source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110671
property_value: exactMatch http://identifiers.org/mesh/C535759
property_value: exactMatch http://identifiers.org/omim/254210
property_value: exactMatch http://identifiers.org/snomedct/230670003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393929
property_value: exactMatch NCIT:C132292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea xsd:anyURI {source="GARD:0009689"}

[Term]
id: MONDO:0009690
name: congenital myasthenic syndrome 10
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS Ib" EXACT [DOID:0110668]
synonym: "Cms Ib" RELATED [OMIM:254300]
synonym: "Cms Ib, formerly" RELATED [OMIM:254300]
synonym: "CMS10" EXACT [DOID:0110668, MONDO:Lexical, OMIM:254300]
synonym: "CMS1B" EXACT [DOID:0110668]
synonym: "congenital myasthenic syndrome caused by mutation in DOK7" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 10" EXACT [DOID:0110668, MONDORULE:2]
synonym: "congenital myasthenic syndrome type IB" EXACT [DOID:0110668, OMIM:254300]
synonym: "congenital myasthenic syndrome type IB, formerly" RELATED [OMIM:254300]
synonym: "DOK7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial limb-girdle myasthenia" EXACT [DOID:0110668]
synonym: "LGM" EXACT [DOID:0110668]
synonym: "myasthenia, limb-girdle, familial" RELATED [OMIM:254300]
synonym: "myasthenia, limb-girdle, familial, formerly" RELATED [OMIM:254300]
synonym: "myasthenic myopathy" RELATED [OMIM:254300]
synonym: "myasthenic myopathy, formerly" RELATED [OMIM:254300]
synonym: "myasthenic syndrome, congenital, 10" RELATED [MONDO:Lexical, OMIM:254300]
synonym: "myasthenic syndrome, congenital, 10; CMS10" RELATED [OMIM:254300]
synonym: "myasthenic syndrome, congenital, type 10" EXACT [MONDORULE:2, OMIM:254300]
xref: DOID:0110668 {source="MONDO:equivalentTo"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:254300 {source="DOID:0110668", source="MONDO:equivalentTo"}
xref: SCTID:230687001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.45"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850792
property_value: exactMatch DOID:0110668
property_value: exactMatch http://identifiers.org/omim/254300
property_value: exactMatch http://identifiers.org/snomedct/230687001

[Term]
id: MONDO:0009691
name: mycosis fungoides
def: "Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." [Orphanet:2584]
subset: gard_rare {source="GARD:0003863"}
subset: ordo_disease {source="Orphanet:2584"}
synonym: "Alibert-Bazin syndrome" RELATED [GARD:0003863]
synonym: "classic mycosis fungoides" RELATED [Orphanet:2584]
synonym: "CTCL/ mycosis fungoides" EXACT [NCIT:C3246]
synonym: "cutaneous T-cell lymphoma/mycosis fungoides" EXACT [NCIT:C3246]
synonym: "granuloma fungoides" RELATED [GARD:0003863]
synonym: "MF" EXACT [DOID:8691, NCIT:C3246]
synonym: "mycosis fungoides" EXACT [DOID:8691, MTH:U002093, OMIM:254400]
synonym: "mycosis fungoides (morphologic abnormality)" EXACT [DOID:8691]
synonym: "mycosis fungoides lymphoma" EXACT [CSP2005:2004-7126, DOID:8691]
synonym: "mycosis fungoides NOS (morphologic abnormality)" EXACT [DOID:8691]
synonym: "mycosis fungoides of unspecified site" EXACT [DOID:8691]
synonym: "mycosis fungoides, Alibert-Bazin type" EXACT [Orphanet:2584]
synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [DOID:8691]
xref: COHD:4040380 {source="MONDO:equivalentTo"}
xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"}
xref: EFO:1001051 {source="MONDO:equivalentTo"}
xref: GARD:0003863 {source="MONDO:equivalentTo"}
xref: ICD10:C84.0 {source="Orphanet:2584", source="MONDO:equivalentTo", source="DOID:8691", source="ORDO:2584/ntbt"}
xref: ICD10:C84.00 {source="DOID:8691"}
xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"}
xref: ICDO:9700/3 {source="NCIT:C3246"}
xref: MedDRA:10028483 {source="EFO:1001051"}
xref: MESH:D009182 {source="MONDO:equivalentTo", source="DOID:8691", source="MONDO:ontobio", source="EFO:1001051"}
xref: NCIT:C3246 {source="MONDO:equivalentTo", source="DOID:8691", source="exact-label-match", source="EFO:1001051"}
xref: OMIM:254400 {source="Orphanet:2584", source="ORDO:2584/e", source="MONDO:equivalentTo", source="DOID:8691"}
xref: ONCOTREE:MYCF {source="MONDO:equivalentTo"}
xref: Orphanet:2584 {source="MONDO:equivalentTo", source="OMIM:254400"}
xref: SCTID:118618005 {source="MONDO:equivalentTo", source="DOID:8691", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0026948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:8691", source="NCIT:C3246", source="OMIM:254400"}
is_a: MONDO:0000607 {source="DOID:8691", source="EFO:1001051", source="MESH:D009182", source="NCIT:C3246"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0015821 {source="Orphanet:2584"} ! mycosis fungoides and variants
property_value: closeMatch http://identifiers.org/meddra/10028483
property_value: closeMatch http://identifiers.org/snomedct/188618003
property_value: closeMatch http://identifiers.org/snomedct/188628007
property_value: closeMatch http://identifiers.org/snomedct/190003004
property_value: closeMatch http://identifiers.org/snomedct/190004005
property_value: closeMatch http://identifiers.org/snomedct/90120004
property_value: exactMatch DOID:8691
property_value: exactMatch http://identifiers.org/mesh/D009182
property_value: exactMatch http://identifiers.org/omim/254400
property_value: exactMatch http://identifiers.org/snomedct/118618005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026948
property_value: exactMatch NCIT:C3246
property_value: exactMatch Orphanet:2584
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides xsd:anyURI {source="GARD:0003863"}

[Term]
id: MONDO:0009692
name: primary myelofibrosis
def: "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." [Orphanet:824]
subset: ordo_disease {source="Orphanet:824"}
synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, Orphanet:824]
synonym: "aleukemic myelosis" EXACT [DOID:4971, MTHICD9_2006:205.8]
synonym: "AMM" EXACT [NCIT:C2862]
synonym: "bone marrow fibrosis" EXACT [DOID:4971, NCIT:C36212]
synonym: "chronic idiopathic myelofibrosis" EXACT [NCIT:C2862]
synonym: "CIMF" EXACT [NCIT:C2862]
synonym: "idiopathic bone marrow fibrosis" EXACT [NCIT:C2862]
synonym: "idiopathic myelofibrosis" EXACT [Orphanet:824]
synonym: "megakaryocytic myelosclerosis" EXACT [DOID:4971]
synonym: "myelofibrosis" RELATED [OMIM:254450]
synonym: "myelofibrosis with myeloid metaplasia" EXACT [OMIM:254450, Orphanet:824]
synonym: "myeloid metaplasia" RELATED [GARD:0008618]
synonym: "myelosclerosis" EXACT [CSP2005:2004-0936, DOID:4971]
synonym: "myelosclerosis with myeloid metaplasia" EXACT [NCIT:C2862]
synonym: "osteomyelofibrosis" EXACT [Orphanet:824]
synonym: "primary myelofibrosis" EXACT [DOID:4971]
xref: COHD:133169 {source="MONDO:equivalentTo"}
xref: DOID:4971 {source="MONDO:equivalentTo"}
xref: EFO:0002430 {source="MONDO:equivalentTo"}
xref: GARD:0008618 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D47.4 {source="DOID:4971", source="Orphanet:824", source="ORDO:824/ntbt"}
xref: ICD10:D75.81 {source="DOID:4971"}
xref: ICD9:238.76 {source="DOID:4971"}
xref: ICD9:289.83 {source="DOID:4971"}
xref: ICDO:9961/3 {source="NCIT:C2862"}
xref: MESH:D055728 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C2862 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"}
xref: OMIM:254450 {source="ORDO:824/e", source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824"}
xref: ONCOTREE:PMF {source="MONDO:equivalentTo"}
xref: Orphanet:824 {source="OMIM:254450", source="MONDO:equivalentTo"}
xref: UMLS:C0001815 {source="DOID:4971", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:824", source="NCIT:C2862"}
xref: UMLS:C0948968 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2355576 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015610 {source="Orphanet:824"} ! acquired aplastic anemia
is_a: MONDO:0020076 {source="EFO:0002430", source="NCIT:C2862", source="ONCOTREE:PMF", source="Orphanet:824"} ! myeloproliferative neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128843003
property_value: closeMatch http://identifiers.org/snomedct/154841009
property_value: closeMatch http://identifiers.org/snomedct/188773009
property_value: closeMatch http://identifiers.org/snomedct/22265001
property_value: closeMatch http://identifiers.org/snomedct/267572005
property_value: closeMatch http://identifiers.org/snomedct/307651005
property_value: closeMatch http://identifiers.org/snomedct/52967002
property_value: closeMatch http://identifiers.org/snomedct/78956007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026987
property_value: exactMatch DOID:4971
property_value: exactMatch http://identifiers.org/mesh/D055728
property_value: exactMatch http://identifiers.org/omim/254450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2355576
property_value: exactMatch NCIT:C2862
property_value: exactMatch Orphanet:824

[Term]
id: MONDO:0009693
name: plasma cell myeloma
def: "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" [NCIT:C3242]
subset: ordo_disease {source="Orphanet:29073"}
synonym: "Al amyloidosis" RELATED [OMIM:254500]
synonym: "amyloidosis, systemic" RELATED [OMIM:254500]
synonym: "Kahler disease" EXACT [NCIT:C3242]
synonym: "Kahler's disease" EXACT [Orphanet:29073]
synonym: "medullary plasmacytoma" EXACT [Orphanet:29073]
synonym: "multiple myeloma" EXACT [NCIT:C3242]
synonym: "multiple myeloma/plasma cell myeloma" EXACT [NCIT:C3242]
synonym: "myeloid neoplasm of plasma cell" EXACT [MONDO:design_pattern]
synonym: "myeloma" EXACT [NCIT:C3242]
synonym: "myeloma - multiple" RELATED [GARD:0007108]
synonym: "myeloma, multiple" RELATED [OMIM:254500]
synonym: "myeloma, NOS" RELATED EXCLUDE [NCIT:C3242]
synonym: "myeloma, plasma cell, malignant" EXACT [NCIT:C3242]
synonym: "myelomatosis" EXACT [NCIT:C3242, Orphanet:29073]
synonym: "plasma cell myeloid neoplasm" EXACT [MONDO:patterns/location]
synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073]
xref: COHD:437233 {source="MONDO:equivalentTo"}
xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"}
xref: EFO:0001378 {source="DOID:9538", source="MONDO:equivalentTo"}
xref: GARD:0007108 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"}
xref: ICD10:C90.00 {source="DOID:9538"}
xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"}
xref: ICDO:9732/3 {source="NCIT:C3242"}
xref: MedDRA:10028228 {source="Orphanet:29073", source="ORDO:29073/e"}
xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378", source="MONDO:ontobio", source="ORDO:29073/e"}
xref: NCIT:C3242 {source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378"}
xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"}
xref: ONCOTREE:PCM {source="MONDO:equivalentTo"}
xref: Orphanet:29073 {source="MONDO:equivalentTo", source="OMIM:254500"}
xref: UMLS:C0026764 {source="Orphanet:29073", source="NCIT:C3242", source="DOID:9538", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254500", source="ORDO:29073/e"}
is_a: MONDO:0004959 {source="EFO:0001378", source="MESH:D009101", source="NCIT:C3242", source="Orphanet:29073"} ! plasma cell neoplasm
is_a: MONDO:0005170 {source="DOID:9538", source="MONDO:Entailed", source="MONDO:Redundant"} ! myeloid neoplasm
is_a: MONDO:0016180 {source="Orphanet:29073"} ! hematological disease associated with an acquired peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/109989006
property_value: closeMatch http://identifiers.org/snomedct/154585004
property_value: closeMatch http://identifiers.org/snomedct/55921005
property_value: closeMatch http://identifiers.org/snomedct/94705007
property_value: exactMatch DOID:9538
property_value: exactMatch http://identifiers.org/meddra/10028228
property_value: exactMatch http://identifiers.org/mesh/D009101
property_value: exactMatch http://identifiers.org/omim/254500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026764
property_value: exactMatch NCIT:C3242
property_value: exactMatch Orphanet:29073

[Term]
id: MONDO:0009694
name: myeloperoxidase deficiency
subset: gard_rare {source="GARD:0003868"}
subset: ordo_disease {source="Orphanet:2587"}
synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587]
synonym: "MPOD" RELATED [MONDO:Lexical, OMIM:254600]
synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600]
synonym: "myeloperoxidase deficiency; MPOD" RELATED [OMIM:254600]
xref: GARD:0003868 {source="MONDO:equivalentTo"}
xref: ICD10:E80.3 {source="Orphanet:2587", source="ORDO:2587/attributed", source="ORDO:2587/ntbt"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562864 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254600 {source="ORDO:2587/e", source="Orphanet:2587", source="MONDO:equivalentTo"}
xref: Orphanet:2587 {source="MONDO:equivalentTo", source="OMIM:254600"}
xref: SCTID:234433009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0398595 {source="ORDO:2587/e", source="NCBI:mim2gene_medline", source="Orphanet:2587", source="MONDO:equivalentTo", source="OMIM:254600"}
is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect
is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment
property_value: exactMatch http://identifiers.org/mesh/C562864
property_value: exactMatch http://identifiers.org/omim/254600
property_value: exactMatch http://identifiers.org/snomedct/234433009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398595
property_value: exactMatch Orphanet:2587
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency xsd:anyURI {source="GARD:0003868"}

[Term]
id: MONDO:0009695
name: myeloproliferative disease, autosomal recessive
synonym: "myeloproliferative disease, autosomal recessive" EXACT [OMIM:254700]
xref: MESH:C564977 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254700 {source="MONDO:equivalentTo"}
xref: UMLS:C1850779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254700"}
is_a: MONDO:0020076 {source="MONDO:cjm"} ! myeloproliferative neoplasm
property_value: exactMatch http://identifiers.org/mesh/C564977
property_value: exactMatch http://identifiers.org/omim/254700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850779

[Term]
id: MONDO:0009696
name: juvenile myoclonic epilepsy
def: "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." [Orphanet:307]
subset: gard_rare {source="GARD:0006808"}
subset: ordo_disease {source="Orphanet:307"}
subset: predisposition
synonym: "EJM" RELATED [MONDO:Lexical, OMIM:254770]
synonym: "epilepsy, myoclonic juvenile" RELATED [MONDO:Lexical, OMIM:254770]
synonym: "epilepsy, myoclonic juvenile; EJM" RELATED [OMIM:254770]
synonym: "Janz syndrome" NARROW [DOID:4890]
synonym: "Janz syndrome" RELATED [OMIM:254770]
synonym: "JME" EXACT [Orphanet:307]
synonym: "juvenile myoclonus epilepsy" EXACT [Orphanet:307]
synonym: "myoclonic epilepsy, juvenile" RELATED [OMIM:254770]
synonym: "myoclonic epilepsy, juvenile, 1" RELATED [GARD:0006808]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" RELATED [OMIM:254770]
synonym: "Petit Mal, impulsive" RELATED [OMIM:254770]
xref: DOID:4890 {source="MONDO:equivalentTo"}
xref: EFO:0006572 {source="MONDO:equivalentTo"}
xref: GARD:0006808 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="Orphanet:307", source="ORDO:307/attributed", source="ORDO:307/ntbt"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071082 {source="ORDO:307/e", source="Orphanet:307"}
xref: MESH:D020190 {source="ORDO:307/e", source="MONDO:equivalentTo", source="Orphanet:307", source="MONDO:ontobio", source="DOID:4890"}
xref: NCIT:C84796 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4890"}
xref: OMIMPS:254770 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="MONDO:equivalentTo", source="OMIM:254770"}
xref: SCTID:6204001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4890"}
xref: UMLS:C0270853 {source="ORDO:307/e", source="MONDO:equivalentTo", source="OMIM:254770", source="Orphanet:307", source="DOID:4890", source="NCIT:C84796"}
is_a: MONDO:0000414 ! childhood electroclinical syndrome
is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome
is_a: MONDO:0017654 {source="Orphanet:307"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: closeMatch http://identifiers.org/omim/606904
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850778
property_value: closeMatch Orphanet:862
property_value: exactMatch DOID:4890
property_value: exactMatch http://identifiers.org/meddra/10071082
property_value: exactMatch http://identifiers.org/mesh/D020190
property_value: exactMatch http://identifiers.org/omim/254770
property_value: exactMatch http://identifiers.org/snomedct/6204001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270853
property_value: exactMatch NCIT:C84796
property_value: exactMatch Orphanet:307
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy xsd:anyURI {source="GARD:0006808"}

[Term]
id: MONDO:0009697
name: Lafora disease
def: "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." [Orphanet:501]
subset: gard_rare {source="GARD:0008214"}
subset: ordo_disease {source="Orphanet:501"}
synonym: "epilepsy progressive myoclonic 2" RELATED [GARD:0008214]
synonym: "epilepsy, progressive myoclonic, 2A" RELATED [OMIM:254780]
synonym: "epilepsy, progressive myoclonic, 2B" RELATED [OMIM:254780]
synonym: "EPM2" EXACT [Orphanet:501]
synonym: "Epm2" RELATED [OMIM:254780]
synonym: "Lafora body disease" RELATED [OMIM:254780]
synonym: "Lafora body disorder" RELATED [GARD:0008214]
synonym: "Lafora disease" EXACT [OMIM:254780]
synonym: "Lafora progressive myoclonic epilepsy" EXACT [DOID:3534]
synonym: "Lafora's disease" EXACT [CSP2005:0485-7984, DOID:3534]
synonym: "Melf" RELATED [OMIM:254780]
synonym: "myoclonic epilepsy of Lafora" EXACT [DOID:3534, OMIM:254780]
synonym: "PME type 2" EXACT [Orphanet:501]
synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501]
synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501]
xref: DOID:3534 {source="MONDO:equivalentTo"}
xref: GARD:0008214 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="Orphanet:501", source="ORDO:501/attributed", source="ORDO:501/ntbt"}
xref: MedDRA:10054030 {source="Orphanet:501", source="ORDO:501/e"}
xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="ORDO:501/e"}
xref: NCIT:C84804 {source="MONDO:equivalentTo", source="DOID:3534", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:254780 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="ORDO:501/e"}
xref: Orphanet:501 {source="OMIM:254780", source="MONDO:equivalentTo"}
xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751783 {source="Orphanet:501", source="OMIM:254780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3534", source="NCIT:C84804", source="ORDO:501/e"}
is_a: MONDO:0017655 {source="Orphanet:501"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0020074 {source="DC-OMIM:254780", source="DOID:3534", source="MESH:D020192", source="OMIM:254780", source="Orphanet:501", source="linkedlifedata"} ! progressive myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850764
property_value: exactMatch DOID:3534
property_value: exactMatch http://identifiers.org/meddra/10054030
property_value: exactMatch http://identifiers.org/mesh/D020192
property_value: exactMatch http://identifiers.org/omim/254780
property_value: exactMatch http://identifiers.org/snomedct/230425004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751783
property_value: exactMatch NCIT:C84804
property_value: exactMatch Orphanet:501
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8214/lafora-disease xsd:anyURI {source="GARD:0008214"}

[Term]
id: MONDO:0009698
name: Unverricht-Lundborg syndrome
def: "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." [Orphanet:308]
subset: ordo_malformation_syndrome {source="Orphanet:308"}
synonym: "Baltic myoclonic epilepsy" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonic type 1" RELATED [GARD:0003876]
synonym: "epilepsy, progressive myoclonic, 1" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonic, 1A" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonus 1" RELATED [GARD:0003876]
synonym: "EPM1" RELATED [GARD:0003876]
synonym: "myoclonic epilepsy of Unverricht and Lundborg" RELATED [OMIM:254800]
synonym: "myoclonus progressive epilepsy of Unverricht and Lundborg" RELATED [GARD:0003876]
synonym: "PME type 1" EXACT [Orphanet:308]
synonym: "progressive myoclonic epilepsy" RELATED [OMIM:254800]
synonym: "progressive myoclonic epilepsy type 1" EXACT [Orphanet:308]
synonym: "progressive myoclonus epilepsy Baltic myoclonic epilepsy" RELATED [GARD:0003876]
synonym: "progressive myoclonus epilepsy type 1" EXACT [Orphanet:308]
synonym: "ULD" EXACT [Orphanet:308]
synonym: "Uld" RELATED [OMIM:254800]
synonym: "Unverricht - Lundborg disease" EXACT [DOID:3535]
synonym: "Unverricht's disease" EXACT [CSP2005:0485-7984, DOID:3535]
synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535]
xref: DOID:3535 {source="MONDO:equivalentTo"}
xref: GARD:0003876 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.3 {source="ORDO:308/attributed", source="ORDO:308/ntbt", source="Orphanet:308"}
xref: MedDRA:10054895 {source="ORDO:308/e", source="Orphanet:308"}
xref: MESH:D020194 {source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308"}
xref: OMIM:254800 {source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308"}
xref: Orphanet:308 {source="MONDO:equivalentTo", source="OMIM:254800"}
xref: SCTID:230423006 {source="DOID:3535", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.09"}
xref: UMLS:C0751785 {source="NCBI:mim2gene_medline", source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="OMIM:254800"}
is_a: MONDO:0017655 {source="Orphanet:308"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308", source="linkedlifedata"} ! progressive myoclonic epilepsy
property_value: closeMatch http://identifiers.org/snomedct/192844008
property_value: closeMatch http://identifiers.org/snomedct/192847001
property_value: closeMatch http://identifiers.org/snomedct/230424000
property_value: closeMatch http://identifiers.org/snomedct/89480000
property_value: exactMatch DOID:3535
property_value: exactMatch http://identifiers.org/meddra/10054895
property_value: exactMatch http://identifiers.org/mesh/D020194
property_value: exactMatch http://identifiers.org/omim/254800
property_value: exactMatch http://identifiers.org/snomedct/230423006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751785
property_value: exactMatch Orphanet:308

[Term]
id: MONDO:0009699
name: action myoclonus-renal failure syndrome
def: "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." [Orphanet:163696]
subset: ordo_disease {source="Orphanet:163696"}
synonym: "action myoclonus-renal failure syndrome" EXACT [OMIM:254900]
synonym: "AMRF" EXACT [Orphanet:163696]
synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure" RELATED [MONDO:Lexical, OMIM:254900]
synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure; EPM4" RELATED [OMIM:254900]
synonym: "EPM4" EXACT [MONDO:Lexical, OMIM:254900, Orphanet:163696]
synonym: "myoclonus-nephropathy syndrome" EXACT [Orphanet:163696]
synonym: "myoclonus-nephropathy syndrome" RELATED [OMIM:254900]
synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696]
xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="ORDO:163696/e"}
xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"}
xref: SCTID:764453009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:163696"} ! primary glomerular disease
is_a: MONDO:0020074 {source="DC-OMIM:254900", source="OMIM:254900"} ! progressive myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751779
property_value: exactMatch http://identifiers.org/omim/254900
property_value: exactMatch http://identifiers.org/snomedct/764453009
property_value: exactMatch Orphanet:163696

[Term]
id: MONDO:0009700
name: Carey-Fineman-Ziter syndrome
def: "Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." [Orphanet:1358]
subset: gard_rare {source="GARD:0003889"}
subset: ordo_malformation_syndrome {source="Orphanet:1358"}
synonym: "Carey Fineman Ziter syndrome" RELATED [GARD:0003889]
synonym: "Carey-Fineman-Ziter syndrome" EXACT [OMIM:254940, Orphanet:1358]
synonym: "Carey-Fineman-Ziter syndrome; CFZS" RELATED [OMIM:254940]
synonym: "CFZ syndrome" RELATED [OMIM:254940]
synonym: "CFZS" RELATED [GARD:0003889]
synonym: "congenital nonprogressive myopathy with Moebius and Robin sequences" RELATED [GARD:0003889]
synonym: "Moebius sequence, Robin complex, and hypotonia" RELATED [GARD:0003889]
synonym: "myopathy, congenital nonprogressive with Moebius and Robin sequences" RELATED [GARD:0003889]
synonym: "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence" RELATED [OMIM:254940]
synonym: "myopathy-Moebius-Robin syndrome" EXACT [Orphanet:1358]
xref: DOID:0080194 {source="MONDO:equivalentTo"}
xref: GARD:0003889 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1358/attributed", source="ORDO:1358/ntbt", source="Orphanet:1358"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254940 {source="MONDO:equivalentTo", source="Orphanet:1358", source="ORDO:1358/e"}
xref: Orphanet:1358 {source="MONDO:equivalentTo", source="OMIM:254940"}
xref: SCTID:429753001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
xref: UMLS:C1850746 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1358", source="OMIM:254940"}
is_a: MONDO:0015335 {source="Orphanet:1358"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:1358"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0080194
property_value: exactMatch http://identifiers.org/mesh/C536102
property_value: exactMatch http://identifiers.org/omim/254940
property_value: exactMatch http://identifiers.org/snomedct/429753001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850746
property_value: exactMatch Orphanet:1358
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome xsd:anyURI {source="GARD:0003889"}

[Term]
id: MONDO:0009701
name: myopathy, granulovacuolar lobular, with electrical myotonia
synonym: "myopathy, granulovacuolar lobular, with electrical myotonia" EXACT [OMIM:254950]
xref: MESH:C564974 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254950 {source="MONDO:equivalentTo"}
xref: UMLS:C1850745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254950"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564974
property_value: exactMatch http://identifiers.org/omim/254950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850745

[Term]
id: MONDO:0009702
name: myopathy due to malate-aspartate shuttle defect
synonym: "myopathy due to malate-aspartate shuttle defect" EXACT [OMIM:254960]
xref: MESH:C564973 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:254960 {source="MONDO:equivalentTo"}
xref: UMLS:C1850744 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254960"}
is_a: MONDO:0003847 {source="MESH:C564973/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564973
property_value: exactMatch http://identifiers.org/omim/254960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850744

[Term]
id: MONDO:0009703
name: myopathy with abnormal lipid metabolism
synonym: "lipid storage myopathy" RELATED [OMIM:255100]
synonym: "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100]
synonym: "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency; LSMFLAD" RELATED [OMIM:255100]
synonym: "LSMFLAD" RELATED [OMIM:255100]
synonym: "myopathy with abnormal lipid metabolism" EXACT [OMIM:255100]
xref: OMIM:255100 {source="MONDO:equivalentTo"}
is_a: MONDO:0016117 ! muscular lipidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310822
property_value: exactMatch http://identifiers.org/omim/255100

[Term]
id: MONDO:0009704
name: carnitine palmitoyl transferase II deficiency, myopathic form
def: "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." [Orphanet:228302]
subset: ordo_clinical_subtype {source="Orphanet:228302"}
synonym: "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" EXACT [Orphanet:228302]
synonym: "Carnitine palmitoyl transferase deficiency type 2, myopathic form" EXACT [Orphanet:228302]
synonym: "Carnitine palmitoyl transferase II deficiency, adult-onset form" EXACT [Orphanet:228302]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, adult-onset" RELATED [OMIM:255110]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic" RELATED [OMIM:255110]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced" RELATED [OMIM:255110]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset" RELATED [OMIM:255110]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced" RELATED [OMIM:255110]
synonym: "CPT 2 deficiency, myopathic" RELATED [OMIM:255110]
synonym: "Cpt2 deficiency, late-onset" RELATED [OMIM:255110]
synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302]
synonym: "CPT2, myopathic form" EXACT [Orphanet:228302]
synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302]
synonym: "CPTII, myopathic form" EXACT [Orphanet:228302]
xref: ICD10:E71.3 {source="ORDO:228302/attributed", source="ORDO:228302/ntbt", source="Orphanet:228302"}
xref: MESH:C563461 {source="MONDO:equivalentTo"}
xref: OMIM:255110 {source="MONDO:equivalentTo", source="Orphanet:228302", source="ORDO:228302/e"}
xref: Orphanet:228302 {source="OMIM:255110", source="MONDO:equivalentTo"}
xref: UMLS:C1833508 {source="MEDGEN:kboom-pr98-c99", source="OMIM:255110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228302"}
is_a: MONDO:0015515 {source="DC-OMIM:255110", source="Orphanet:228302"} ! carnitine palmitoyltransferase II deficiency
property_value: exactMatch http://identifiers.org/mesh/C563461
property_value: exactMatch http://identifiers.org/omim/255110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833508
property_value: exactMatch Orphanet:228302

[Term]
id: MONDO:0009705
name: carnitine palmitoyl transferase 1A deficiency
def: "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." [Orphanet:156]
comment: Editor note: consider adding sibling for CPT-1B
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:156"}
synonym: "Carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120]
synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT [DOID:0090129]
synonym: "Carnitine palmitoyl transferase IA deficiency" EXACT [Orphanet:156]
synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129]
synonym: "Carnitine Palmitoyltransferase 1 deficiency" RELATED [OMIM:255120]
synonym: "Carnitine Palmitoyltransferase 1A deficiency" RELATED [OMIM:255120]
synonym: "Carnitine palmitoyltransferase 1A deficiency" RELATED [GARD:0001120]
synonym: "carnitine palmitoyltransferase I deficiency" EXACT [OMIM:255120]
synonym: "CPT 1 deficiency" RELATED [OMIM:255120]
synonym: "CPT deficiency, hepatic, type 1" RELATED [OMIM:255120]
synonym: "CPT I deficiency" EXACT [DOID:0090129]
synonym: "CPT1A deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "CPT1A disorder of carnitine cycle and carnitine transport" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" EXACT [MONDO:design_pattern]
synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" RELATED [GARD:0001120]
synonym: "hepatic CPT deficiency type I" EXACT [DOID:0090129]
synonym: "hepatic CPT1" RELATED [GARD:0001120]
synonym: "L-CPT 1 deficiency" RELATED [GARD:0001120]
synonym: "L-CPT1 deficiency" EXACT [DOID:0090129, GARD:0001120, Orphanet:156]
synonym: "L-CPTI deficiency" EXACT [GARD:0001120, Orphanet:156]
xref: DOID:0090129 {source="MONDO:equivalentTo"}
xref: GARD:0001120 {source="MONDO:equivalentTo"}
xref: HGNC:2328 {source="GARD:0001120"}
xref: ICD10:E71.3 {source="ORDO:156/ntbt", source="ORDO:156/inclusion", source="DOID:0090129", source="Orphanet:156"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535588 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98871 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:255120 {source="MONDO:equivalentTo", source="ORDO:156/e", source="DOID:0090129", source="Orphanet:156"}
xref: Orphanet:156 {source="OMIM:255120", source="MONDO:equivalentTo", source="DOID:0090129", source="GARD:0001120"}
xref: SCTID:238001003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1829703 {source="MEDGEN:kboom-pr98-c99", source="OMIM:255120", source="MONDO:equivalentTo", source="NCIT:C98871", source="GARD:0001120", source="Orphanet:156"}
is_a: MONDO:0017716 {source="MONDO:Redundant", source="Orphanet:156"} ! disorder of carnitine cycle and carnitine transport
is_a: MONDO:0037858 ! inherited fatty acid metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342789
property_value: exactMatch DOID:0090129
property_value: exactMatch http://identifiers.org/mesh/C535588
property_value: exactMatch http://identifiers.org/omim/255120
property_value: exactMatch http://identifiers.org/snomedct/238001003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1829703
property_value: exactMatch NCIT:C98871
property_value: exactMatch Orphanet:156
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency xsd:anyURI {source="GARD:0001120"}

[Term]
id: MONDO:0009706
name: hereditary myopathy with lactic acidosis due to ISCU deficiency
def: "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." [Orphanet:43115]
subset: ordo_disease {source="Orphanet:43115"}
synonym: "aconitase deficiency" EXACT [Orphanet:43115]
synonym: "HML" RELATED [MONDO:Lexical, OMIM:255125]
synonym: "iron-sulfur cluster deficiency myopathy" EXACT [Orphanet:43115]
synonym: "ISCU myopathy" EXACT [Orphanet:43115]
synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125]
synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125]
synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115]
synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125]
synonym: "myopathy with lactic acidosis, hereditary; HML" RELATED [OMIM:255125]
xref: ICD10:G71.3 {source="Orphanet:43115", source="ORDO:43115/attributed", source="ORDO:43115/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564972 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source="ORDO:43115/e"}
xref: Orphanet:43115 {source="MONDO:equivalentTo", source="OMIM:255125"}
xref: SCTID:699268002 {source="MONDO:kboom-pr-0.71/0.41/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C1850718 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:43115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255125"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
is_a: MONDO:0016804 {source="Orphanet:43115"} ! exercise intolerance with lactic acidosis
is_a: MONDO:0020123 {source="Orphanet:43115"} ! metabolic myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564972
property_value: exactMatch http://identifiers.org/omim/255125
property_value: exactMatch http://identifiers.org/snomedct/699268002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850718
property_value: exactMatch Orphanet:43115

[Term]
id: MONDO:0009707
name: myopathy with giant abnormal mitochondria
synonym: "myopathy with giant abnormal mitochondria" EXACT [OMIM:255140]
xref: MESH:C564971 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255140 {source="MONDO:equivalentTo"}
xref: UMLS:C1850717 {source="OMIM:255140", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564971
property_value: exactMatch http://identifiers.org/omim/255140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850717

[Term]
id: MONDO:0009708
name: myopathy, myosin storage, autosomal recessive
synonym: "MSMB" RELATED [MONDO:Lexical, OMIM:255160]
synonym: "myopathy, hyaline body, autosomal recessive" RELATED [OMIM:255160]
synonym: "myopathy, myosin storage, autosomal recessive" EXACT [MONDO:Lexical, OMIM:255160]
synonym: "myopathy, myosin storage, autosomal recessive; MSMB" RELATED [OMIM:255160]
xref: MESH:C564970 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255160 {source="MONDO:equivalentTo"}
xref: UMLS:C1850709 {source="OMIM:255160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018889 {source="ORDO:53698/btnt"} ! hyaline body myopathy
property_value: exactMatch http://identifiers.org/mesh/C564970
property_value: exactMatch http://identifiers.org/omim/255160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850709

[Term]
id: MONDO:0009709
name: myopathy, centronuclear, 2
def: "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern]
synonym: "CNM2" RELATED [MONDO:Lexical, OMIM:255200]
synonym: "myopathy, centronuclear, 2" EXACT [MONDO:Lexical, OMIM:255200]
synonym: "myopathy, centronuclear, 2; CNM2" RELATED [OMIM:255200]
synonym: "myopathy, centronuclear, autosomal recessive" RELATED [OMIM:255200]
synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1, OMIM:255200]
synonym: "myotubular myopathy, autosomal recessive" RELATED [OMIM:255200]
xref: MESH:C562934 {source="MONDO:equivalentTo"}
xref: OMIM:255200 {source="MONDO:equivalentTo"}
is_a: MONDO:0015705 {source="ORDO:169186/btnt"} ! autosomal recessive centronuclear myopathy
property_value: exactMatch http://identifiers.org/mesh/C562934
property_value: exactMatch http://identifiers.org/omim/255200

[Term]
id: MONDO:0009710
name: myotonia congenita
def: "Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres." [Orphanet:614]
subset: ordo_disease {source="Orphanet:614"}
synonym: "batten-Turner congenital myopathy" RELATED [OMIM:255300]
synonym: "congenital myotonia, autosomal dominant form" EXACT [DOID:2106]
synonym: "myopathy, congenital" RELATED [OMIM:255300]
synonym: "myotonia congenita" EXACT [Orphanet:614]
synonym: "Thomsen and Becker disease" RELATED [Orphanet:614]
synonym: "Thomsen disease" EXACT [DOID:2106]
synonym: "Thomsen's disease" EXACT [CSP2005:1849-6776, DOID:2106]
xref: DOID:2106 {source="MONDO:equivalentTo"}
xref: GARD:0012301 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.1 {source="Orphanet:614", source="ORDO:614/inclusion", source="ORDO:614/ntbt"}
xref: ICD10:G71.12 {source="MONDO:equivalentTo"}
xref: ICD9:359.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:2106"}
xref: MedDRA:10028655 {source="ORDO:614/e", source="Orphanet:614"}
xref: MedDRA:10043461 {source="ORDO:614/e", source="Orphanet:614"}
xref: MESH:D009224 {source="MONDO:equivalentTo", source="DOID:2106"}
xref: NCIT:C84912 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2106"}
xref: OMIM:255300 {source="MONDO:equivalentTo"}
xref: Orphanet:614 {source="MONDO:equivalentTo", source="DOID:2106"}
xref: SCTID:57938005 {source="MONDO:kboom-pr-0.94/0.76/1.73", source="MONDO:equivalentTo"}
xref: UMLS:C0027127 {source="ORDO:614/e", source="Orphanet:614", source="NCIT:C84912", source="MONDO:equivalentTo", source="DOID:2106", source="OMIM:255300"}
is_a: MONDO:0016121 {source="Orphanet:614"} ! congenital myotonia
is_a: MONDO:0019119 {source="Orphanet:614"} ! muscular channelopathy
is_a: MONDO:0019952 {source="DC-OMIM:255300"} ! congenital myopathy
property_value: exactMatch DOID:2106
property_value: exactMatch http://identifiers.org/meddra/10028655
property_value: exactMatch http://identifiers.org/meddra/10043461
property_value: exactMatch http://identifiers.org/mesh/D009224
property_value: exactMatch http://identifiers.org/omim/255300
property_value: exactMatch http://identifiers.org/snomedct/57938005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936781
property_value: exactMatch NCIT:C84912
property_value: exactMatch Orphanet:614

[Term]
id: MONDO:0009711
name: congenital fiber-type disproportion myopathy
def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046]
subset: ordo_disease {source="Orphanet:2020"}
synonym: "CFTD" RELATED [MONDO:Lexical, OMIM:255310]
synonym: "CFTDM" EXACT [Orphanet:2020]
synonym: "congenital fiber type disproportion" RELATED [GARD:0006161]
synonym: "congenital Fiber-type disproportion" EXACT [NCIT:C120046]
synonym: "congenital Fiber-type disproportion" RELATED [NCIT:C120046]
synonym: "fiber-type disproportion myopathy, congenital" RELATED [OMIM:255310]
synonym: "myopathy, congenital with fiber-type disproportion" RELATED [GARD:0006161]
synonym: "myopathy, congenital, with fiber-type disproportion" RELATED [MONDO:Lexical, OMIM:255310]
synonym: "myopathy, congenital, with fiber-type disproportion; CFTD" RELATED [OMIM:255310]
xref: GARD:0006161 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:2020/inclusion", source="ORDO:2020/ntbt", source="Orphanet:2020"}
xref: NCIT:C120046 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07"}
xref: OMIM:255310 {source="MONDO:equivalentTo", source="ORDO:2020/e", source="Orphanet:2020"}
xref: Orphanet:2020 {source="MONDO:equivalentTo", source="OMIM:255310"}
xref: UMLS:C0546264 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255310", source="NCIT:C120046", source="ORDO:2020/e", source="Orphanet:2020"}
is_a: MONDO:0000865 ! congenital fiber-type disproportion
is_a: MONDO:0002921 {source="OMIM:255310"} ! congenital structural myopathy
is_a: MONDO:0016193 {source="Orphanet:2020"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016197 {source="Orphanet:2020"} ! qualitative or quantitative defects of selenoprotein N1
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
is_a: MONDO:0100100 ! SELENON-related myopathy
is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
property_value: exactMatch http://identifiers.org/omim/255310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546264
property_value: exactMatch NCIT:C120046
property_value: exactMatch Orphanet:2020

[Term]
id: MONDO:0009712
name: congenital multicore myopathy with external ophthalmoplegia
def: "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." [NCIT:C150608]
subset: ordo_clinical_subtype {source="Orphanet:98905"}
synonym: "minicore myopathy" RELATED [OMIM:255320]
synonym: "minicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320]
synonym: "minicore myopathy, antenatal onset, with arthrogryposis" EXACT [OMIM:255320]
synonym: "multicore myopathy" RELATED [OMIM:255320]
synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:0010316]
synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320]
synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320]
xref: GARD:0010316 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:98905/attributed", source="ORDO:98905/ntbt", source="Orphanet:98905"}
xref: NCIT:C150608 {source="MONDO:equivalentTo"}
xref: OMIM:255320 {source="MONDO:equivalentTo", source="ORDO:98905/e", source="Orphanet:98905"}
xref: Orphanet:98905 {source="MONDO:equivalentTo", source="OMIM:255320"}
xref: UMLS:C1850674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255320", source="Orphanet:98905"}
is_a: MONDO:0018948 {source="Orphanet:98905"} ! multiminicore myopathy
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
property_value: exactMatch http://identifiers.org/omim/255320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850674
property_value: exactMatch NCIT:C150608
property_value: exactMatch Orphanet:98905

[Term]
id: MONDO:0009713
name: MYP18
synonym: "myopia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:255500]
synonym: "myopia 18, autosomal recessive; MYP18" RELATED [OMIM:255500]
synonym: "MYP18" EXACT [MONDO:Lexical, OMIM:255500]
xref: MESH:C567606 {source="MONDO:equivalentTo"}
xref: OMIM:255500 {source="MONDO:equivalentTo"}
xref: UMLS:C2749509 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255500"}
is_a: MONDO:0001384 {source="DC-OMIM:255500", source="MESH:C567606", source="OMIM:255500"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567606
property_value: exactMatch http://identifiers.org/omim/255500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749509

[Term]
id: MONDO:0009714
name: myosclerosis
def: "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." [Orphanet:289380]
subset: ordo_disease {source="Orphanet:289380"}
synonym: "congenital myosclerosis, LC6wenthal type" EXACT [Orphanet:289380]
synonym: "congenital myosclerosis, Löwenthal type" EXACT [Orphanet:289380]
synonym: "myopathy, myosclerotic" RELATED [OMIM:255600]
synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600]
synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600]
xref: ICD10:G71.8 {source="ORDO:289380/attributed", source="ORDO:289380/ntbt", source="Orphanet:289380"}
xref: MedDRA:10064584 {source="ORDO:289380/e", source="Orphanet:289380"}
xref: MESH:C564968 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255600 {source="MONDO:equivalentTo", source="ORDO:289380/e", source="Orphanet:289380"}
xref: Orphanet:289380 {source="MONDO:equivalentTo", source="OMIM:255600"}
xref: SCTID:763895001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016111 {source="Orphanet:289380"} ! non-dystrophic myopathy with collagen 6 anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850671
property_value: exactMatch http://identifiers.org/meddra/10064584
property_value: exactMatch http://identifiers.org/mesh/C564968
property_value: exactMatch http://identifiers.org/omim/255600
property_value: exactMatch http://identifiers.org/snomedct/763895001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1611706
property_value: exactMatch Orphanet:289380

[Term]
id: MONDO:0009715
name: myotonia congenita, autosomal recessive
def: "Autosomal recessive form of myotonia congenita." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern]
synonym: "Becker disease" RELATED [OMIM:255700]
synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700]
synonym: "myotonia, generalized" RELATED [OMIM:255700]
xref: OMIM:255700 {source="MONDO:equivalentTo"}
xref: UMLS:C0751360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255700"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0009710 {source="DC-OMIM:255700", source="MONDO:Redundant", source="MONDOLEX:0009715"} ! myotonia congenita
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/255700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751360

[Term]
id: MONDO:0009716
name: Richieri Costa-da Silva syndrome
subset: gard_rare {source="GARD:0004709"}
subset: ordo_malformation_syndrome {source="Orphanet:3101"}
synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED [OMIM:255710]
synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101]
synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709]
xref: GARD:0004709 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3101", source="ORDO:3101/attributed", source="ORDO:3101/ntbt"}
xref: MESH:C535675 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo"}
xref: OMIM:255710 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo"}
xref: Orphanet:3101 {source="MONDO:equivalentTo", source="OMIM:255710"}
xref: UMLS:C2930978 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016761 {source="Orphanet:3101"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3101"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850654
property_value: exactMatch http://identifiers.org/mesh/C535675
property_value: exactMatch http://identifiers.org/omim/255710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930978
property_value: exactMatch Orphanet:3101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome xsd:anyURI {source="GARD:0004709"}

[Term]
id: MONDO:0009717
name: Schwartz-Jampel syndrome
def: "Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities." [Orphanet:800]
comment: Editor note: consider splitting out type 1
subset: ordo_disease {source="Orphanet:800"}
subset: prototype_pattern
synonym: "Aberfeld syndrome" EXACT [DOID:0090005, Orphanet:800]
synonym: "burton skeletal dysplasia" EXACT [DOID:0090005, Orphanet:800]
synonym: "burton syndrome" EXACT [DOID:0090005, Orphanet:800]
synonym: "Catel-Hempel syndrome" EXACT [DOID:0090005, Orphanet:800]
synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [DOID:0090005]
synonym: "Chondrodystrophic myotonia" RELATED [OMIM:255800]
synonym: "dysostosis enchondralis metaepiphysaria, Catel-Hempel type" EXACT [Orphanet:800]
synonym: "myotonic chondrodystrophy" EXACT [DOID:0090005, Orphanet:800]
synonym: "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities" RELATED [GARD:0000250]
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" RELATED [OMIM:255800]
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [DOID:0090005, Orphanet:800]
synonym: "Osteochondromuscular dystrophy" EXACT [Orphanet:800]
synonym: "osteochondromuscular dystrophy" EXACT [DOID:0090005]
synonym: "Schwartz Jampel Aberfeld syndrome" RELATED [GARD:0000250]
synonym: "Schwartz Jampel syndrome" RELATED [GARD:0000250]
synonym: "Schwartz-Jampel syndrome" EXACT [OMIM:255800]
synonym: "Schwartz-Jampel syndrome 1" RELATED [DOID:0090005]
synonym: "Schwartz-Jampel syndrome type 1" EXACT [DOID:0090005, MONDORULE:1, Orphanet:800]
synonym: "Schwartz-Jampel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:255800]
synonym: "Schwartz-Jampel syndrome, type 1; SJS1" RELATED [OMIM:255800]
synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800]
synonym: "Sja syndrome" RELATED [OMIM:255800]
synonym: "SJS" EXACT [Orphanet:800]
synonym: "SJS1" EXACT [MONDO:Lexical, OMIM:255800, Orphanet:800]
xref: DOID:0090005 {source="MONDO:equivalentTo"}
xref: GARD:0000250 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.1 {source="Orphanet:800", source="DOID:0090005", source="ORDO:800/attributed", source="ORDO:800/ntbt"}
xref: ICD10:Q78.8 {source="Orphanet:800", source="ORDO:800/ntbt", source="ORDO:800/index"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.81"}
xref: OMIM:255800 {source="ORDO:800/e", source="Orphanet:800", source="MONDO:equivalentTo", source="DOID:0090005"}
xref: Orphanet:800 {source="MONDO:equivalentTo", source="DOID:0090005", source="OMIM:255800"}
xref: SCTID:29145002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0036391 {source="ORDO:800/e", source="NCBI:mim2gene_medline", source="Orphanet:800", source="MONDO:equivalentTo", source="OMIM:255800", source="NCIT:C35008"}
is_a: MONDO:0006025 {source="DOID:0090005", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016106 {source="Orphanet:800"} ! progressive muscular dystrophy
is_a: MONDO:0016121 {source="Orphanet:800"} ! congenital myotonia
is_a: MONDO:0016151 {source="Orphanet:800"} ! qualitative or quantitative defects of perlecan
is_a: MONDO:0016761 {source="Orphanet:800"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019689 {source="Orphanet:800"} ! perlecan-related bone disorder
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020208 {source="Orphanet:800"} ! syndromic myopia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0090005
property_value: exactMatch http://identifiers.org/omim/255800
property_value: exactMatch http://identifiers.org/snomedct/29145002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036391
property_value: exactMatch NCIT:C35008
property_value: exactMatch Orphanet:800

[Term]
id: MONDO:0009718
name: myxedema
def: "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." [NCIT:C34834]
comment: Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism.
synonym: "myxedema" EXACT [OMIM:255900]
xref: DOID:11634 {source="EFO:1001055", source="MONDO:equivalentTo"}
xref: EFO:1001055 {source="MONDO:equivalentTo"}
xref: ICD10:E03.9 {source="DOID:11634"}
xref: MedDRA:10028663 {source="EFO:1001055"}
xref: MESH:D009230 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo", source="NONDO:finding", source="MONDO:ontobio"}
xref: NCIT:C34834 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"}
xref: OMIM:255900 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"}
xref: SCTID:43153006 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0027145 {source="DOID:11634", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34834", source="OMIM:255900"}
is_a: MONDO:0005420 {source="DOID:11634", source="EFO:1001055", source="MESH:D009230", source="NCIT:C34834", source="linkedlifedata"} ! hypothyroidism
property_value: closeMatch http://identifiers.org/meddra/10028663
property_value: closeMatch http://identifiers.org/snomedct/154660000
property_value: closeMatch http://identifiers.org/snomedct/190274003
property_value: closeMatch http://identifiers.org/snomedct/267465007
property_value: exactMatch DOID:11634
property_value: exactMatch http://identifiers.org/mesh/D009230
property_value: exactMatch http://identifiers.org/omim/255900
property_value: exactMatch http://identifiers.org/snomedct/43153006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027145
property_value: exactMatch NCIT:C34834

[Term]
id: MONDO:0009719
name: familial atrial myxoma
subset: gard_rare {source="GARD:0000139"}
subset: ordo_disease {source="Orphanet:615"}
synonym: "atrial Myxoma, familial" RELATED [OMIM:255960]
synonym: "intracardiac myxoma" RELATED [GARD:0000139]
synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960]
xref: GARD:0000139 {source="MONDO:equivalentTo"}
xref: ICD10:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="ORDO:615/attributed", source="ORDO:615/ntbt"}
xref: MESH:C538262 {source="ORDO:615/e", source="MONDO:equivalentTo", source="Orphanet:615", source="MONDO:ontobio"}
xref: OMIM:255960 {source="ORDO:615/e", source="MONDO:equivalentTo", source="Orphanet:615"}
xref: Orphanet:615 {source="MONDO:equivalentTo", source="OMIM:255960"}
xref: SCTID:233855002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850635 {source="ORDO:615/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:615", source="OMIM:255960"}
is_a: MONDO:0017129 {source="Orphanet:615"} ! inherited cardiac tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931787
property_value: exactMatch http://identifiers.org/mesh/C538262
property_value: exactMatch http://identifiers.org/omim/255960
property_value: exactMatch http://identifiers.org/snomedct/233855002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850635
property_value: exactMatch Orphanet:615
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial xsd:anyURI {source="GARD:0000139"}

[Term]
id: MONDO:0009720
name: Keipert syndrome
def: "Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662]
subset: ordo_malformation_syndrome {source="Orphanet:2662"}
synonym: "Keipert syndrome" EXACT [OMIM:255980]
synonym: "Keipert syndrome; KPTS" EXACT [OMIM:301026]
synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662]
synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026]
xref: GARD:0000267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2662", source="ORDO:2662/attributed", source="ORDO:2662/ntbt"}
xref: MESH:C538337 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255980 {source="ORDO:2662/e", source="Orphanet:2662", source="MONDO:equivalentTo"}
xref: OMIM:301026 {source="MONDO:equivalentTo"}
xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"}
xref: SCTID:763774001 {source="MONDO:equivalentTo"}
xref: UMLS:C1850627 {source="ORDO:2662/e", source="Orphanet:2662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0043008 {source="Orphanet:2662"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538337
property_value: exactMatch http://identifiers.org/omim/255980
property_value: exactMatch http://identifiers.org/omim/301026
property_value: exactMatch http://identifiers.org/snomedct/763774001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850627
property_value: exactMatch Orphanet:2662

[Term]
id: MONDO:0009721
name: Nathalie syndrome
def: "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." [Orphanet:2663]
subset: gard_rare {source="GARD:0003929"}
subset: ordo_malformation_syndrome {source="Orphanet:2663"}
synonym: "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" RELATED [GARD:0003929]
synonym: "deafness-cataract-skeletal anomalies syndrome" EXACT [Orphanet:2663]
synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663]
synonym: "Nathalie syndrome" EXACT [OMIM:255990]
synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663]
xref: GARD:0003929 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2663", source="ORDO:2663/attributed", source="ORDO:2663/ntbt"}
xref: MESH:C538342 {source="Orphanet:2663", source="ORDO:2663/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:255990 {source="Orphanet:2663", source="ORDO:2663/e", source="MONDO:equivalentTo"}
xref: Orphanet:2663 {source="OMIM:255990", source="MONDO:equivalentTo"}
xref: SCTID:716170005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1850626 {source="Orphanet:2663", source="ORDO:2663/e", source="OMIM:255990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:2663"} ! syndromic developmental defect of the eye
is_a: MONDO:0020225 {source="Orphanet:2663"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C538342
property_value: exactMatch http://identifiers.org/omim/255990
property_value: exactMatch http://identifiers.org/snomedct/716170005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850626
property_value: exactMatch Orphanet:2663
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome xsd:anyURI {source="GARD:0003929"}

[Term]
id: MONDO:0009722
name: Bailey-Bloch congenital myopathy
def: "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." [Orphanet:168572]
subset: ordo_malformation_syndrome {source="Orphanet:168572"}
synonym: "congenital myopathy - cleft palate - malignant hyperthermia" RELATED [GARD:0008432]
synonym: "congenital myopathy cleft palate and malignant hyperthermia" RELATED [GARD:0008432]
synonym: "congenital myopathy-cleft palate-malignant hyperthermia syndrome" EXACT [Orphanet:168572]
synonym: "myopathy, congenital, with cleft palate and malignant hyperthermia" RELATED [OMIM:255995]
synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical, OMIM:255995]
synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995]
synonym: "Native American myopathy; NAM" RELATED DEPRECATED [OMIM:255995]
synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/]
xref: DOID:0060346 {source="MONDO:equivalentTo"}
xref: GARD:0008432 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:168572/attributed", source="ORDO:168572/ntbt", source="Orphanet:168572"}
xref: MESH:C538343 {source="MONDO:equivalentTo", source="DOID:0060346", source="MONDO:ontobio", source="Orphanet:168572", source="ORDO:168572/e"}
xref: OMIM:255995 {source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572", source="ORDO:168572/e"}
xref: Orphanet:168572 {source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995"}
xref: SCTID:723439002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850625 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995", source="Orphanet:168572", source="ORDO:168572/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015335 {source="Orphanet:168572"} ! orofacial clefting syndrome
is_a: MONDO:0018753 {source="Orphanet:168572"} ! rare disease with malignant hyperthermia
is_a: MONDO:0019952 {source="Orphanet:168572"} ! congenital myopathy
property_value: exactMatch DOID:0060346
property_value: exactMatch http://identifiers.org/mesh/C538343
property_value: exactMatch http://identifiers.org/omim/255995
property_value: exactMatch http://identifiers.org/snomedct/723439002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850625
property_value: exactMatch Orphanet:168572
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1377 xsd:string

[Term]
id: MONDO:0009723
name: Leigh syndrome
def: "Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." [Orphanet:506]
subset: ordo_group_of_disorders {source="Orphanet:506"}
synonym: "infantile necrotizing encephalomyelopathy" EXACT [DOID:3652, MTHICD9_2006:330.8]
synonym: "infantile subacute necrotizing encephalopathy" EXACT [Orphanet:506]
synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [DOID:3652]
synonym: "Leigh disease" EXACT [Orphanet:506]
synonym: "Leigh syndrome" EXACT [MONDO:Lexical, OMIM:256000] {comment="DOID:3652"}
synonym: "Leigh syndrome due to mitochondrial Complex 1 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 2 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 3 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 4 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 5 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome; LS" EXACT [OMIM:256000]
synonym: "Leigh's disease" EXACT [NCIT:C84814]
synonym: "Leigh's necrotizing encephalopathy" RELATED [GARD:0006877]
synonym: "LS" EXACT [MONDO:Lexical, OMIM:256000]
synonym: "necrotizing encephalopathy, infantile Subacute, of Leigh" RELATED [GARD:0006877, OMIM:256000]
synonym: "SNE" RELATED [GARD:0006877]
synonym: "subacute necrotizing encephalomyelopathy" RELATED [CSP2005:1254-7727, DOID:3652]
synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877]
xref: DOID:3652 {source="MONDO:equivalentTo"}
xref: GARD:0006877 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G31.8 {source="ORDO:506/ntbt", source="Orphanet:506", source="ORDO:506/inclusion"}
xref: ICD10:G31.82 {source="DOID:3652"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062950 {source="ORDO:506/e", source="Orphanet:506"}
xref: MESH:D007888 {source="DOID:3652", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"}
xref: NCIT:C84814 {source="DOID:3652", source="MONDO:equivalentTo"}
xref: OMIM:256000 {source="DOID:3652", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"}
xref: Orphanet:506 {source="OMIM:256000", source="MONDO:equivalentTo", comment="DOID:3652"}
xref: SCTID:29570005 {source="DOID:3652", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:C0023264 {source="DOID:3652", source="NCIT:C84814", source="NCBI:mim2gene_medline", source="OMIM:256000", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"}
is_a: MONDO:0016403 {source="Orphanet:506"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016578 {source="Orphanet:506"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0019058 {source="Orphanet:506"} ! neurometabolic disease
is_a: MONDO:0020244 {source="Orphanet:506"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020253 {source="Orphanet:506"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020257 {source="Orphanet:506"} ! supranuclear oculomotor palsy
is_a: MONDO:0020265 {source="Orphanet:506"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838951
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850597
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850598
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850599
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850600
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931891
property_value: exactMatch DOID:3652
property_value: exactMatch http://identifiers.org/meddra/10062950
property_value: exactMatch http://identifiers.org/mesh/D007888
property_value: exactMatch http://identifiers.org/omim/256000
property_value: exactMatch http://identifiers.org/snomedct/29570005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023264
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751267
property_value: exactMatch NCIT:C84814
property_value: exactMatch Orphanet:506

[Term]
id: MONDO:0009724
name: nail-patella-like renal disease
def: "Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." [Orphanet:2613]
subset: ordo_disease {source="Orphanet:2613"}
synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [OMIM:256020]
synonym: "nail patella like renal disease" RELATED [GARD:0000321]
synonym: "nail-patella-like renal disease" EXACT [OMIM:256020]
synonym: "Salcedo syndrome" EXACT [Orphanet:2613]
xref: GARD:0000321 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537228 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256020 {source="MONDO:equivalentTo", source="ORDO:2613/e", source="Orphanet:2613"}
xref: Orphanet:2613 {source="OMIM:256020", source="MONDO:equivalentTo"}
xref: SCTID:236527004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C0403548 {source="MEDGEN:kboom-pr97-c99", source="OMIM:256020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2613/e", source="Orphanet:2613"}
is_a: MONDO:0015163 {source="Orphanet:2613"} ! primary glomerular disease
property_value: exactMatch http://identifiers.org/mesh/C537228
property_value: exactMatch http://identifiers.org/omim/256020
property_value: exactMatch http://identifiers.org/snomedct/236527004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403548
property_value: exactMatch Orphanet:2613

[Term]
id: MONDO:0009725
name: nemaline myopathy 2
def: "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." [NCIT:C118784]
synonym: "NEB nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM2" EXACT [DOID:0110928, MONDO:Lexical, OMIM:256030]
synonym: "nemaline myopathy 2" EXACT [MONDO:Lexical, OMIM:256030]
synonym: "nemaline myopathy 2, autosomal recessive" EXACT [DOID:0110928]
synonym: "nemaline myopathy 2; NEM2" RELATED [OMIM:256030]
synonym: "nemaline myopathy caused by mutation in NEB" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 2" EXACT [DOID:0110928, MONDORULE:1, OMIM:256030]
xref: DOID:0110928 {source="MONDO:equivalentTo"}
xref: MESH:C538349 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118784 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:256030 {source="MONDO:equivalentTo", source="DOID:0110928"}
xref: UMLS:C1850569 {source="OMIM:256030", source="NCIT:C118784", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN187052 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
property_value: exactMatch DOID:0110928
property_value: exactMatch http://identifiers.org/mesh/C538349
property_value: exactMatch http://identifiers.org/omim/256030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN187052
property_value: exactMatch NCIT:C118784

[Term]
id: MONDO:0009726
name: proteosome-associated autoinflammatory syndrome
subset: gard_rare {source="GARD:0010988"}
subset: ordo_clinical_subtype {source="Orphanet:325004", source="Orphanet:324999", source="Orphanet:2615"}
subset: ordo_disease {source="Orphanet:324977"}
synonym: "ALDD" RELATED [MONDO:Lexical, OMIM:256040]
synonym: "ALDD syndrome" EXACT [Orphanet:324977]
synonym: "amyotrophy fat tissue anomaly" RELATED [GARD:0003916]
synonym: "amyotrophy-fat tissue anomaly syndrome" EXACT [Orphanet:2615]
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [MONDO:Lexical, OMIM:256040]
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome; ALDD" RELATED [OMIM:256040]
synonym: "autoinflammation-lipodystrophy-dermatosis syndrome" EXACT [Orphanet:324977]
synonym: "CANDLE syndrome" EXACT [GARD:0010811, MONDO:0017960]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" RELATED [GARD:0010811]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [OMIM:256040]
synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811, Orphanet:325004]
synonym: "JMP syndrome" EXACT [MONDO:0017959]
synonym: "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" RELATED [GARD:0010988]
synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" RELATED [OMIM:256040]
synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553]
synonym: "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" EXACT [Orphanet:324999]
synonym: "Nakajo Nishimura syndrome" EXACT [GARD:0003916]
synonym: "Nakajo syndrome" EXACT [GARD:0003917]
synonym: "Nakajo-Nishimura syndrome" EXACT [MONDO:0016849, OMIM:256040]
synonym: "NNS" EXACT [Orphanet:2615]
synonym: "nodular erythema digital changes" RELATED [GARD:0003917]
synonym: "PRAAS" EXACT [Orphanet:324977]
synonym: "proteasome disability syndrome" EXACT [Orphanet:324977]
synonym: "proteasome-associated autoinflammatory syndrome" EXACT [Orphanet:324977]
synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [Orphanet:2615]
xref: DOID:0050553 {source="MONDO:equivalentTo"}
xref: GARD:0003916 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared"}
xref: GARD:0003917 {source="MONDO:equivalentTo"}
xref: GARD:0010811 {source="MONDO:obsoleteEquivalent"}
xref: GARD:0010988 {source="MONDO:obsoleteEquivalent"}
xref: ICD10:L98.8 {source="ORDO:2615/attributed", source="ORDO:2615/ntbt", source="Orphanet:2615"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538334 {source="MONDO:equivalentTo"}
xref: OMIMPS:256040 {source="MONDO:equivalentTo"}
xref: Orphanet:2615 {source="OMIM:256040", source="MONDO:equivalentTo"}
xref: Orphanet:324977 {source="OMIM:256040", source="MONDO:equivalentTo"}
xref: Orphanet:324999 {source="OMIM:256040", source="MONDO:equivalentTo"}
xref: Orphanet:325004 {source="OMIM:256040", source="MONDO:obsoleteEquivalent", source="GARD:0010811"}
xref: SCTID:702449004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.85"}
xref: UMLS:CN202195 {source="MONDO:equivalentTo"}
xref: UMLS:CN204109 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 {source="DOID:0050553", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017369 {source="Orphanet:325004"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:324977"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0018782 {source="Orphanet:324977"} ! type 1 interferonopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850568
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278560
property_value: closeMatch Orphanet:1953
property_value: exactMatch DOID:0050553
property_value: exactMatch http://identifiers.org/mesh/C538334
property_value: exactMatch http://identifiers.org/snomedct/702449004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204109
property_value: exactMatch Orphanet:2615
property_value: exactMatch Orphanet:324977
property_value: exactMatch Orphanet:324999
property_value: exactMatch Orphanet:325004
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature xsd:anyURI {source="GARD:0010811"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome xsd:anyURI {source="GARD:0010988"}

[Term]
id: MONDO:0009727
name: atelosteogenesis type II
def: "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." [Orphanet:56304]
subset: ordo_malformation_syndrome {source="Orphanet:56304"}
synonym: "AO2" EXACT [MONDO:Lexical, OMIM:256050, Orphanet:56304]
synonym: "AOII" EXACT [Orphanet:56304]
synonym: "Aoii" RELATED [OMIM:256050]
synonym: "atelosteogenesis II" RELATED [GARD:0008329]
synonym: "atelosteogenesis type 2" EXACT [Orphanet:56304]
synonym: "atelosteogenesis, type 2" RELATED [OMIM:256050]
synonym: "atelosteogenesis, type II" RELATED [MONDO:Lexical, OMIM:256050]
synonym: "atelosteogenesis, type II; AO2" RELATED [OMIM:256050]
synonym: "De 50A Chapelle dysplasia" RELATED [OMIM:256050]
synonym: "De la Chapelle dysplasia" EXACT [Orphanet:56304]
synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050]
synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304]
xref: GARD:0008329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.5 {source="Orphanet:56304", source="MONDO:directSiblingOf", source="ORDO:56304/attributed", source="ORDO:56304/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:56304/e"}
xref: OMIM:256050 {source="Orphanet:56304", source="MONDO:equivalentTo", source="ORDO:56304/e"}
xref: Orphanet:56304 {source="MONDO:equivalentTo", source="OMIM:256050"}
xref: SCTID:254055004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850554 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:56304", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256050"}
xref: UMLS:C1850555 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:56304", source="MONDO:equivalentTo", source="OMIM:256050"}
is_a: MONDO:0000389 {source="DC-OMIM:256050", source="OMIM:256050", source="linkedlifedata"} ! atelosteogenesis
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56304", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:56304"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015322 {source="Orphanet:56304"} ! Pierre Robin syndrome associated with bone disease
is_a: MONDO:0019688 {source="Orphanet:56304"} ! sulfation-related bone disorder
is_a: MONDO:0019697 {source="Orphanet:56304"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535395
property_value: exactMatch http://identifiers.org/omim/256050
property_value: exactMatch http://identifiers.org/snomedct/254055004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432203
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850555
property_value: exactMatch Orphanet:56304

[Term]
id: MONDO:0009728
name: nephronophthisis 1
def: "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." [NCIT:C74998]
subset: ordo_clinical_subtype {source="Orphanet:93592"}
synonym: "familial juvenile nephronophthisis" EXACT [NCIT:C74998]
synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998]
synonym: "juvenile nephronophthisis 1" EXACT [DOID:0111112]
synonym: "nephronophthisis (disease) caused by mutation in NPHP1" EXACT []
synonym: "nephronophthisis 1" EXACT [MONDO:Lexical, OMIM:256100]
synonym: "nephronophthisis 1; NPHP1" RELATED [OMIM:256100]
synonym: "nephronophthisis type 1" EXACT [DOID:0111112, MONDORULE:1, OMIM:256100]
synonym: "nephronophthisis, familial juvenile" RELATED [OMIM:256100]
synonym: "NPH1" EXACT [DOID:0111112]
synonym: "Nph1" RELATED [OMIM:256100]
synonym: "NPHP1" EXACT [DOID:0111112, MONDO:Lexical, OMIM:256100]
synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111112 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.5 {source="Orphanet:93592", source="ORDO:93592/attributed", source="ORDO:93592/ntbt"}
xref: MESH:C537699 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C74998 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: OMIM:256100 {source="MONDO:equivalentTo", source="DOID:0111112"}
xref: Orphanet:93592 {source="MONDO:equivalentTo"}
xref: SCTID:444830001 {source="MONDO:equivalentTo"}
xref: UMLS:C1855681 {source="NCIT:C74998", source="Orphanet:93592", source="OMIM:256100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205459 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="NCIT:C74998"} ! syndromic disease
is_a: MONDO:0019005 {source="DC-OMIM:256100", source="DOID:0111112", source="MONDO:Redundant", source="OMIM:256100", source="Orphanet:93592"} ! nephronophthisis (disease)
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
property_value: exactMatch DOID:0111112
property_value: exactMatch http://identifiers.org/mesh/C537699
property_value: exactMatch http://identifiers.org/omim/256100
property_value: exactMatch http://identifiers.org/snomedct/444830001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205459
property_value: exactMatch NCIT:C74998
property_value: exactMatch Orphanet:93592

[Term]
id: MONDO:0009729
name: nephropathy - deafness - hyperparathyroidism syndrome
def: "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." [Orphanet:2668]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2668"}
synonym: "Edwards Patton Dilly syndrome" RELATED [GARD:0003940]
synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668]
synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940]
synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120]
xref: GARD:0003940 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2668/attributed", source="ORDO:2668/ntbt", source="Orphanet:2668"}
xref: MESH:C536401 {source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668", source="MONDO:ontobio"}
xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668"}
xref: Orphanet:2668 {source="GARD:0003940", source="OMIM:256120", source="MONDO:equivalentTo"}
xref: SCTID:724093004 {source="MONDO:equivalentTo"}
xref: UMLS:C1850553 {source="GARD:0003940", source="OMIM:256120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019589 {source="Orphanet:2668"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C536401
property_value: exactMatch http://identifiers.org/omim/256120
property_value: exactMatch http://identifiers.org/snomedct/724093004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850553
property_value: exactMatch Orphanet:2668
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism xsd:anyURI {source="GARD:0003940"}

[Term]
id: MONDO:0009730
name: obsolete nephrosialidosis
is_obsolete: true
replaced_by: MONDO:0009738

[Term]
id: MONDO:0009731
name: nephrosis-deafness-urinary tract-digital malformations syndrome
def: "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." [Orphanet:2669]
subset: ordo_malformation_syndrome {source="Orphanet:2669"}
synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669]
synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943]
synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200]
xref: GARD:0003943 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2669/attributed", source="ORDO:2669/ntbt", source="Orphanet:2669"}
xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="ORDO:2669/e", source="MONDO:ontobio"}
xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="ORDO:2669/e"}
xref: Orphanet:2669 {source="MONDO:equivalentTo", source="OMIM:256200"}
xref: UMLS:C1850552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256200", source="Orphanet:2669", source="ORDO:2669/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015620 {source="Orphanet:2669"} ! syndromic urogenital tract malformation
is_a: MONDO:0019589 {source="Orphanet:2669"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2669"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2669"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536402
property_value: exactMatch http://identifiers.org/omim/256200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850552
property_value: exactMatch Orphanet:2669

[Term]
id: MONDO:0009732
name: congenital nephrotic syndrome, Finnish type
def: "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." [Orphanet:839]
subset: clingen
subset: gard_rare {source="GARD:0001500"}
subset: ordo_disease {source="Orphanet:839"}
synonym: "CnF" RELATED [GARD:0001500]
synonym: "congenital nephrotic syndrome - Finnish type" EXACT [NCIT:C122795]
synonym: "congenital nephrotic syndrome 1" RELATED [GARD:0001500]
synonym: "congenital nephrotic syndrome Finnish type" RELATED [GARD:0001500]
synonym: "Finnish congenital nephrosis" EXACT [OMIM:256300, Orphanet:839]
synonym: "nephrosis 1, congenital, Finnish type" RELATED [GARD:0001500]
synonym: "nephrosis, congenital" RELATED [GARD:0001500]
synonym: "nephrotic syndrome - NPHS1 associated" EXACT [NCIT:C122795]
synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300]
synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300]
synonym: "nephrotic syndrome, type 1; NPHS1" RELATED [OMIM:256300]
synonym: "NPHS1" RELATED [MONDO:Lexical, OMIM:256300]
xref: GARD:0001500 {source="MONDO:equivalentTo"}
xref: ICD10:N04.8 {source="ORDO:839/attributed", source="ORDO:839/ntbt", source="Orphanet:839"}
xref: MedDRA:10060740 {source="ORDO:839/e", source="Orphanet:839"}
xref: NCIT:C122795 {source="MONDO:equivalentTo"}
xref: OMIM:256300 {source="MONDO:equivalentTo", source="ORDO:839/e", source="Orphanet:839"}
xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"}
xref: SCTID:197601003 {source="MONDO:equivalentTo"}
xref: UMLS:C0403399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256300", source="ORDO:839/e", source="NCIT:C122795", source="Orphanet:839"}
is_a: MONDO:0002350 {source="MONDOLEX:0009732", source="OMIM:256300", source="linkedlifedata"} ! familial nephrotic syndrome
is_a: MONDO:0019987 {source="Orphanet:839"} ! congenital and infantile nephrotic syndrome
property_value: exactMatch http://identifiers.org/meddra/10060740
property_value: exactMatch http://identifiers.org/mesh/C535761
property_value: exactMatch http://identifiers.org/omim/256300
property_value: exactMatch http://identifiers.org/snomedct/197601003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403399
property_value: exactMatch NCIT:C122795
property_value: exactMatch Orphanet:839
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type xsd:anyURI {source="GARD:0001500"}

[Term]
id: MONDO:0009733
name: nephrotic syndrome, type 4
def: "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." [NCIT:C121198]
subset: clingen
synonym: "congenital nephrotic syndrome - diffuse mesangial sclerosis" EXACT [NCIT:C121198]
synonym: "diffuse isolated mesangial sclerosis" RELATED [GARD:0003547]
synonym: "diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "DMS" RELATED [GARD:0003547]
synonym: "familial mesangial sclerosis" RELATED [GARD:0003547]
synonym: "isolated diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "mesangial sclerosis, diffuse" RELATED [GARD:0003547]
synonym: "nephrotic syndrome caused by mutation in WT1" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, early onset with diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "nephrotic syndrome, type 4" EXACT [MONDO:Lexical, OMIM:256370]
synonym: "nephrotic syndrome, type 4; NPHS4" RELATED [OMIM:256370]
synonym: "NPHS4" RELATED [MONDO:Lexical, OMIM:256370]
synonym: "WT1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0003547 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C121198 {source="MONDO:equivalentTo"}
xref: OMIM:256370 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="NCIT:C121198", source="OMIM:256370"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268747
property_value: exactMatch http://identifiers.org/omim/256370
property_value: exactMatch NCIT:C121198

[Term]
id: MONDO:0009734
name: hyperinsulinemic hypoglycemia, familial, 1
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCC8 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HHF1" RELATED [MONDO:Lexical, OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [MONDO:cjm]
synonym: "hyperinsulinemic hypoglycemia, familial, 1" EXACT [MONDO:Lexical, OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia, familial, 1; HHF1" RELATED [OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia, familial, type 1" EXACT [MONDORULE:1, OMIM:256450]
synonym: "hyperinsulinism, congenital" RELATED [OMIM:256450]
synonym: "hyperinsulinism, familial, with pancreatic Nesidioblastosis" RELATED [OMIM:256450]
synonym: "hypoglycemia, hyperinsulinemic, of infancy" RELATED [OMIM:256450]
synonym: "Nesidioblastosis of pancreas" RELATED [OMIM:256450]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:256450]
xref: DOID:0070219 {source="MONDO:equivalentTo"}
xref: OMIM:256450 {source="MONDO:equivalentTo"}
xref: SCTID:360339005 {source="MONDO:kboom-pr-0.72/0.41/0.16", source="MONDO:equivalentTo"}
is_a: MONDO:0005803 {source="DC-OMIM:256450", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931832
property_value: exactMatch DOID:0070219
property_value: exactMatch http://identifiers.org/omim/256450
property_value: exactMatch http://identifiers.org/snomedct/360339005

[Term]
id: MONDO:0009735
name: Netherton syndrome
def: "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." [Orphanet:634]
subset: gard_rare {source="GARD:0007182"}
subset: ordo_disease {source="Orphanet:634"}
synonym: "bamboo hair syndrome" EXACT [Orphanet:634]
synonym: "Comel-Netherton syndrome" RELATED [OMIM:256500]
synonym: "CoMèl-Netherton syndrome" EXACT [Orphanet:634]
synonym: "Comèl-Netherton syndrome" EXACT [Orphanet:634]
synonym: "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" RELATED [OMIM:256500]
synonym: "neth" RELATED [MONDO:Lexical, OMIM:256500]
synonym: "Netherton disease" RELATED [OMIM:256500]
synonym: "Netherton syndrome" EXACT [MONDO:Lexical, OMIM:256500]
synonym: "Netherton syndrome; neth" RELATED [OMIM:256500]
synonym: "NS" EXACT [Orphanet:634]
synonym: "Ns" RELATED [OMIM:256500]
xref: DOID:0050474 {source="MONDO:equivalentTo"}
xref: GARD:0007182 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.8 {source="Orphanet:634", source="ORDO:634/attributed", source="ORDO:634/ntbt"}
xref: MedDRA:10062909 {source="ORDO:634/e", source="Orphanet:634"}
xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84922 {source="DOID:0050474", source="MONDO:kboom-pr-0.89/0.78/0.06", source="MONDO:equivalentTo"}
xref: OMIM:256500 {source="DOID:0050474", source="ORDO:634/e", source="Orphanet:634", source="MONDO:equivalentTo"}
xref: Orphanet:634 {source="MONDO:equivalentTo", source="OMIM:256500"}
xref: SCTID:312514006 {source="DOID:0050474", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.38"}
is_a: MONDO:0017265 ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017271 {source="Orphanet:634"} ! autosomal ichthyosis syndrome with prominent hair abnormalities
is_a: MONDO:0018037 {source="Orphanet:634"} ! hyper-IgE syndrome
is_a: MONDO:0020269 ! syndromic ichthyosis associated with ocular features
relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:634"} ! obsolete eyebrow/eyelashes structural anomaly
property_value: closeMatch http://identifiers.org/snomedct/205555008
property_value: closeMatch http://identifiers.org/snomedct/239058007
property_value: closeMatch http://identifiers.org/snomedct/254127001
property_value: closeMatch http://identifiers.org/snomedct/34638006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265962
property_value: exactMatch DOID:0050474
property_value: exactMatch http://identifiers.org/meddra/10062909
property_value: exactMatch http://identifiers.org/mesh/D056770
property_value: exactMatch http://identifiers.org/omim/256500
property_value: exactMatch http://identifiers.org/snomedct/312514006
property_value: exactMatch NCIT:C84922
property_value: exactMatch Orphanet:634
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome xsd:anyURI {source="GARD:0007182"}

[Term]
id: MONDO:0009736
name: Neu-Laxova syndrome 1
def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [Orphanet:2671]
synonym: "Neu-Laxova syndrome" RELATED [OMIM:256520]
synonym: "Neu-Laxova syndrome 1" EXACT [MONDO:Lexical, OMIM:256520]
synonym: "Neu-Laxova syndrome 1; NLS1" RELATED [OMIM:256520]
synonym: "Neu-Laxova syndrome caused by mutation in PHGDH" EXACT [MONDO:design_pattern]
synonym: "Neu-Laxova syndrome type 1" EXACT [DOID:0080076, MONDORULE:1, OMIM:256520]
synonym: "NLS1" RELATED [MONDO:Lexical, OMIM:256520]
synonym: "PHGDH Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080076 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2671"}
xref: OMIM:256520 {source="Orphanet:2671", source="DOID:0080076", source="MONDO:equivalentTo"}
xref: UMLS:CN032230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000179 {source="DC-OMIM:256520", source="MONDO:Redundant", source="OMIM:256520"} ! Neu-Laxova syndrome
property_value: exactMatch DOID:0080076
property_value: exactMatch http://identifiers.org/omim/256520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032230

[Term]
id: MONDO:0009737
name: galactosialidosis
def: "Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." [Orphanet:351]
subset: gard_rare {source="GARD:0003953"}
subset: ordo_disease {source="Orphanet:351"}
synonym: "cathepsin A deficiency" RELATED [OMIM:256540]
synonym: "cathepsin A deficiency of" RELATED [GARD:0003953]
synonym: "galactosialidosis" EXACT [MONDO:Lexical, OMIM:256540]
synonym: "galactosialidosis; GSL" RELATED [OMIM:256540]
synonym: "Goldberg syndrome" EXACT [OMIM:256540, Orphanet:351]
synonym: "GSL" RELATED [MONDO:Lexical, OMIM:256540]
synonym: "lysosomal protective Protein deficiency" RELATED [OMIM:256540]
synonym: "lysosomal protective protein deficiency of" RELATED [GARD:0003953]
synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [Orphanet:351]
synonym: "neuraminidase deficiency with beta-galactosidase deficiency" RELATED [OMIM:256540]
synonym: "neuraminidase/Beta-galactosidase expression" RELATED [OMIM:256540]
synonym: "PPCA deficiency" RELATED [OMIM:256540]
synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540]
xref: GARD:0003953 {source="MONDO:equivalentTo"}
xref: ICD10:E77.1 {source="ORDO:351/attributed", source="ORDO:351/ntbt", source="Orphanet:351"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536411 {source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351", source="MONDO:ontobio"}
xref: NCIT:C129928 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:256540 {source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351"}
xref: Orphanet:351 {source="OMIM:256540", source="MONDO:equivalentTo"}
xref: SCTID:35691006 {source="MONDO:kboom-pr-1.00/0.79/8.44", source="MONDO:equivalentTo"}
xref: UMLS:C0268233 {source="OMIM:256540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351", source="NCIT:C129928"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019058 {source="Orphanet:351"} ! neurometabolic disease
is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis
is_a: MONDO:0019706 {source="Orphanet:351"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020244 {source="Orphanet:351"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020279 {source="Orphanet:351"} ! metabolic disease with corneal opacity
is_a: MONDO:0020282 {source="Orphanet:351"} ! metabolic disease with macular cherry-red spot
property_value: exactMatch http://identifiers.org/mesh/C536411
property_value: exactMatch http://identifiers.org/omim/256540
property_value: exactMatch http://identifiers.org/snomedct/35691006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268233
property_value: exactMatch NCIT:C129928
property_value: exactMatch Orphanet:351
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis xsd:anyURI {source="GARD:0003953"}

[Term]
id: MONDO:0009738
name: sialidosis type 2
def: "Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." [Orphanet:87876]
comment: See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 {source="MONDO:cjm"}
subset: ordo_disease {source="Orphanet:87876"}
synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550]
synonym: "dysmorphic sialidosis" EXACT []
synonym: "dysmorphic sialidosis with renal involvement" EXACT []
synonym: "glycoprotein neuraminidase deficiency" RELATED [OMIM:256550]
synonym: "glycoproteinosis" RELATED [DOID:3343]
synonym: "infantile dysmorphic sialidosis" EXACT [Orphanet:87876]
synonym: "lipomucopolysaccharidosis" RELATED [OMIM:256550]
synonym: "ML 1" RELATED [OMIM:256550]
synonym: "ML1" RELATED [GARD:0007183]
synonym: "mucolipidosis 1" RELATED [OMIM:256550]
synonym: "mucolipidosis I" EXACT [NCIT:C125596]
synonym: "mucolipidosis type 1" RELATED [GARD:0007183]
synonym: "mucolipidosis type I" EXACT [DOID:3343]
synonym: "myoclonus--cherry Red spot syndrome" RELATED [OMIM:256550]
synonym: "nephrosialidosis" EXACT [MONDO:0009730, OMIM:256150]
synonym: "NEU 1 deficiency" RELATED [GARD:0007183]
synonym: "Neu deficiency" RELATED [OMIM:256550]
synonym: "Neu1 deficiency" RELATED [OMIM:256550]
synonym: "NEU1 sialidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Neug deficiency" RELATED [OMIM:256550]
synonym: "neuraminidase 1 deficiency" RELATED [OMIM:256550]
synonym: "neuraminidase deficiency" RELATED [OMIM:256550]
synonym: "sialidase deficiency" RELATED [OMIM:256550]
synonym: "sialidosis" BROAD [DOID:3343]
synonym: "sialidosis caused by mutation in NEU1" EXACT [MONDO:design_pattern]
synonym: "sialidosis type II" EXACT [NCIT:C125596]
synonym: "sialidosis, type 1" RELATED [OMIM:256550]
synonym: "sialidosis, type 2" EXACT [OMIM:256550]
synonym: "sialidosis, type II" RELATED [GARD:0007183]
xref: DOID:3343 {source="MONDO:equivalentTo"}
xref: GARD:0007183 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E77.1 {source="DOID:3343", source="Orphanet:87876", source="ORDO:87876/attributed", source="ORDO:87876/ntbt"}
xref: MESH:C562606 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125596 {source="MONDO:equivalentTo"}
xref: OMIM:256150 {source="MONDO:obsoleteEquivalent", source="Orphanet:87876", source="ORDO:87876/btnt"}
xref: OMIM:256550 {source="ORDO:87876/e", source="DOID:3343", source="Orphanet:87876", source="MONDO:equivalentTo"}
xref: Orphanet:87876 {source="OMIM:256150", source="OMIM:256550", source="MONDO:equivalentTo"}
xref: SCTID:52186006 {source="MONDO:equivalentTo"}
xref: SCTID:81896006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.24"}
xref: UMLS:C0268232 {source="OMIM:256150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C3888317 {source="Orphanet:87876", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN206285 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:87876"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015919 {source="Orphanet:87876"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0017734 {source="MONDO:Redundant", source="Orphanet:87876", source="linkedlifedata"} ! sialidosis
is_a: MONDO:0019706 {source="Orphanet:87876"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0019743 {source="Orphanet:87876"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020280 {source="Orphanet:87876"} ! metabolic disease with cataract
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: disease_has_feature MONDO:0002331 {source="MONDO:0009730"} ! nephrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268226
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268228
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850510
property_value: exactMatch DOID:3343
property_value: exactMatch http://identifiers.org/mesh/C562606
property_value: exactMatch http://identifiers.org/omim/256150
property_value: exactMatch http://identifiers.org/omim/256550
property_value: exactMatch http://identifiers.org/snomedct/52186006
property_value: exactMatch http://identifiers.org/snomedct/81896006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206285
property_value: exactMatch NCIT:C125596
property_value: exactMatch Orphanet:87876

[Term]
id: MONDO:0009739
name: infantile neuroaxonal dystrophy
def: "Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." [Orphanet:35069]
comment: Editor note: check PLA2G6
subset: gard_rare
subset: ordo_disease {source="Orphanet:35069"}
synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [Orphanet:2174]
synonym: "inaD" EXACT [Orphanet:35069]
synonym: "INAD1" RELATED [Orphanet:35069]
synonym: "infantile neuroaxonal dystrophy" EXACT [Orphanet:35069]
synonym: "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy" RELATED [GARD:0003957]
synonym: "KARAK syndrome, included" RELATED [GARD:0003957]
synonym: "phospholipase A2-associated neurodegeneration" EXACT [Orphanet:35069]
synonym: "plan" EXACT [Orphanet:35069]
synonym: "Seitelberger disease" EXACT DEPRECATED [Orphanet:35069]
xref: GARD:0003957 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G23.0 {source="ORDO:35069/attributed", source="ORDO:35069/ntbt", source="Orphanet:35069"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536071 {source="MONDO:equivalentTo"}
xref: NCIT:C84927 {source="MONDO:equivalentTo"}
xref: Orphanet:35069 {source="MONDO:equivalentTo", source="OMIM:256600"}
xref: SCTID:52713000 {source="MONDO:kboom-pr-1.00/0.78/6.95", source="MONDO:equivalentTo"}
is_a: MONDO:0017998 {source="Orphanet:35069"} ! PLA2G6-associated neurodegeneration
is_a: MONDO:0020127 {source="Orphanet:35069"} ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931102
property_value: closeMatch Orphanet:2174
property_value: exactMatch http://identifiers.org/mesh/C536071
property_value: exactMatch http://identifiers.org/omim/256600
property_value: exactMatch http://identifiers.org/snomedct/52713000
property_value: exactMatch NCIT:C84927
property_value: exactMatch Orphanet:35069

[Term]
id: MONDO:0009740
name: neurofaciodigitorenal syndrome
def: "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." [Orphanet:2673]
subset: gard_rare {source="GARD:0003964"}
subset: ordo_malformation_syndrome {source="Orphanet:2673"}
synonym: "Freire Maia-Pinheiro-Opitz syndrome" EXACT [Orphanet:2673]
synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964]
synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690]
synonym: "Nfdr syndrome" RELATED [OMIM:256690]
xref: GARD:0003964 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2673", source="ORDO:2673/attributed", source="ORDO:2673/ntbt"}
xref: MESH:C537388 {source="ORDO:2673/e", source="Orphanet:2673", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256690 {source="ORDO:2673/e", source="Orphanet:2673", source="MONDO:equivalentTo"}
xref: Orphanet:2673 {source="OMIM:256690", source="MONDO:equivalentTo"}
xref: SCTID:725908007 {source="MONDO:equivalentTo"}
xref: UMLS:C0796088 {source="OMIM:256690", source="ORDO:2673/e", source="Orphanet:2673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2673", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2673"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019721 {source="Orphanet:2673"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C537388
property_value: exactMatch http://identifiers.org/omim/256690
property_value: exactMatch http://identifiers.org/snomedct/725908007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796088
property_value: exactMatch Orphanet:2673
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome xsd:anyURI {source="GARD:0003964"}

[Term]
id: MONDO:0009741
name: neuroblastoma, susceptibility to
subset: predisposition
synonym: "neuroblastoma, susceptibility to" EXACT [OMIM:256700]
synonym: "neuroblastoma, susceptibility to, 1" RELATED [OMIM:256700]
synonym: "susceptibility to neuroblastoma" RELATED [OMIM:256700]
xref: OMIM:256700 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma
relationship: predisposes_towards MONDO:0005072 ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749484
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749485
property_value: exactMatch http://identifiers.org/omim/256700

[Term]
id: MONDO:0009742
name: neuroectodermal melanolysosomal disease
def: "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." [Orphanet:33445]
subset: ordo_malformation_syndrome {source="Orphanet:33445"}
synonym: "ELEJALDE disease" RELATED [OMIM:256710]
synonym: "Elejalde disease" EXACT [Orphanet:33445]
synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710]
xref: ICD10:L81.4 {source="Orphanet:33445", source="ORDO:33445/attributed", source="ORDO:33445/ntbt"}
xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:33445/e"}
xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="ORDO:33445/e"}
xref: Orphanet:33445 {source="MONDO:equivalentTo", source="OMIM:256710"}
xref: SCTID:724091002 {source="MONDO:equivalentTo"}
xref: UMLS:C1860157 {source="Orphanet:33445", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:256710", source="ORDO:33445/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015331 {source="Orphanet:33445"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015651 {source="Orphanet:33445"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0019289 {source="Orphanet:33445"} ! hyperpigmentation of the skin
is_a: MONDO:0019716 {source="Orphanet:33445"} ! overgrowth syndrome
is_a: MONDO:0020276 {source="Orphanet:33445"} ! pigmentation disorder with eye involvement, excluding albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850466
property_value: exactMatch http://identifiers.org/mesh/C536203
property_value: exactMatch http://identifiers.org/omim/256710
property_value: exactMatch http://identifiers.org/snomedct/724091002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860157
property_value: exactMatch Orphanet:33445

[Term]
id: MONDO:0009743
name: neurologic disease, infantile multisystem, with osseous fragility
synonym: "neurologic disease, infantile multisystem, with osseous fragility" EXACT [OMIM:256720]
xref: MESH:C564954 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256720 {source="MONDO:equivalentTo"}
xref: UMLS:C1850465 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256720"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564954
property_value: exactMatch http://identifiers.org/omim/256720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850465

[Term]
id: MONDO:0009744
name: neuronal ceroid lipofuscinosis 1
def: "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85861]
subset: gard_rare {source="GARD:0001219"}
subset: ordo_etiological_subtype {source="Orphanet:228329"}
synonym: "adult CLN (type of CLN1)" RELATED [GARD:0001219]
synonym: "ceroid lipofuscinosis neuronal 1" RELATED [GARD:0001219]
synonym: "ceroid lipofuscinosis, neuronal, 1" RELATED [MONDO:Lexical, OMIM:256730]
synonym: "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" RELATED [OMIM:256730]
synonym: "ceroid lipofuscinosis, neuronal, 1; CLN1" RELATED [OMIM:256730]
synonym: "ceroid lipofuscinosis, neuronal, type 1" EXACT [MONDORULE:1, OMIM:256730]
synonym: "classic late infantile CLN (type of CLN1)" RELATED [GARD:0001219]
synonym: "CLN1" EXACT [DOID:0110721, MONDO:Lexical, OMIM:256730]
synonym: "CLN1 disease" RELATED [Orphanet:228329]
synonym: "CLN1 variable age at onset" RELATED [GARD:0001219]
synonym: "infantile CLN (type of CLN1)" RELATED [GARD:0001219]
synonym: "infantile neuronal ceroid lipofuscinosis" EXACT [NCIT:C85861]
synonym: "juvenile CLN (type of CLN1)" RELATED [GARD:0001219]
synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [DOID:0110721]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in PPT1" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [DOID:0110721, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, infantile" RELATED [OMIM:256730]
synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Santavuori disease" RELATED [OMIM:256730]
synonym: "Santavuori-Haltia disease" RELATED [OMIM:256730]
xref: DOID:0110721 {source="MONDO:equivalentTo"}
xref: GARD:0001219 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="DOID:0110721", source="MONDO:subClassOf", source="Orphanet:228329", source="ORDO:228329/attributed", source="ORDO:228329/ntbt"}
xref: NCIT:C85861 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: OMIM:256730 {source="DOID:0110721", source="ORDO:228329/e", source="Orphanet:228329", source="MONDO:equivalentTo"}
xref: Orphanet:228329 {source="DOID:0110721", source="MONDO:equivalentTo", source="OMIM:256730"}
is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228329"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="ORDO:79262/btnt", source="Orphanet:228329"} ! adult neuronal ceroid lipofuscinosis
is_a: MONDO:0019261 {source="MONDOLEX:0009744", source="ORDO:79263/btnt", source="Orphanet:228329"} ! infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228329"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850451
property_value: exactMatch DOID:0110721
property_value: exactMatch http://identifiers.org/omim/256730
property_value: exactMatch NCIT:C85861
property_value: exactMatch Orphanet:228329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 xsd:anyURI {source="GARD:0001219"}

[Term]
id: MONDO:0009745
name: neuronal ceroid lipofuscinosis 5
def: "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes ( mutations ) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5]
subset: gard_rare {source="GARD:0001223"}
subset: ordo_etiological_subtype {source="Orphanet:228360"}
synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical, OMIM:256731]
synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [OMIM:256731]
synonym: "ceroid lipofuscinosis, neuronal, 5; CLN5" RELATED [OMIM:256731]
synonym: "ceroid lipofuscinosis, neuronal, type 5" EXACT [MONDORULE:1, OMIM:256731]
synonym: "CLN5" EXACT [DOID:0110728, MONDO:Lexical, OMIM:256731]
synonym: "CLN5 disease" RELATED [Orphanet:228360]
synonym: "CLN5 disease, adult" RELATED [GARD:0001223]
synonym: "CLN5 disease, juvenile" RELATED [GARD:0001223]
synonym: "CLN5 disease, late infantile (subtype)" RELATED [GARD:0001223]
synonym: "CLN5 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Finnish Vlincl" RELATED [OMIM:256731]
synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [DOID:0110728]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN5" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223]
synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731]
xref: DOID:0110728 {source="MONDO:equivalentTo"}
xref: GARD:0001223 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:228360/attributed", source="ORDO:228360/ntbt", source="Orphanet:228360", source="DOID:0110728"}
xref: MESH:C575534 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="ORDO:228360/e", source="DOID:0110728"}
xref: Orphanet:228360 {source="MONDO:equivalentTo", source="OMIM:256731", source="DOID:0110728"}
is_a: MONDO:0015674 {source="MONDOLEX:0009745", source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850442
property_value: exactMatch DOID:0110728
property_value: exactMatch http://identifiers.org/mesh/C575534
property_value: exactMatch http://identifiers.org/omim/256731
property_value: exactMatch Orphanet:228360
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 xsd:anyURI {source="GARD:0001223"}

[Term]
id: MONDO:0009746
name: hereditary sensory and autonomic neuropathy type 4
def: "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." [Orphanet:642]
subset: ordo_disease {source="Orphanet:642"}
synonym: "CIP-anhidrosis syndrome" EXACT [Orphanet:642]
synonym: "CIPA" RELATED [MONDO:Lexical, OMIM:256800]
synonym: "congenital insensitivity to pain with anhidrosis" EXACT [NCIT:C118633]
synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [Orphanet:642]
synonym: "familial dysautonomia, type 2" RELATED [OMIM:256800]
synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [OMIM:256800]
synonym: "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [Orphanet:642]
synonym: "hereditary sensory neuropathy type 4" RELATED [DOID:0070146]
synonym: "hereditary sensory neuropathy type IV" EXACT [DOID:0070146]
synonym: "HSAN 4" RELATED [OMIM:256800]
synonym: "HSAN IV" RELATED [GARD:0003006]
synonym: "HSAN4" EXACT [Orphanet:642]
synonym: "HSNAN4" RELATED [GARD:0003006]
synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:0070146, MONDO:Lexical, OMIM:256800]
synonym: "insensitivity to pain, congenital, with anhidrosis; CIPA" RELATED [OMIM:256800]
synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800]
synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070146 {source="MONDO:equivalentTo"}
xref: GARD:0003006 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:3006 {source="DOID:0070146"}
xref: ICD10:G60.8 {source="Orphanet:642", source="ORDO:642/attributed", source="ORDO:642/ntbt"}
xref: NCIT:C118633 {source="DOID:0070146", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="ORDO:642/e"}
xref: Orphanet:642 {source="DOID:0070146", source="MONDO:equivalentTo", source="OMIM:256800"}
xref: PMID:14272277 {source="DOID:0070146"}
xref: PMID:8696348 {source="DOID:0070146"}
xref: SCTID:62985007 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="DOID:0070146", source="MONDO:equivalentTo"}
xref: UMLS:C0020074 {source="Orphanet:642", source="DOID:0070146", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118633", source="ORDO:642/e", source="OMIM:256800"}
is_a: MONDO:0015366 {source="Orphanet:642"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070146
property_value: exactMatch http://identifiers.org/omim/256800
property_value: exactMatch http://identifiers.org/snomedct/62985007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020074
property_value: exactMatch NCIT:C118633
property_value: exactMatch Orphanet:642

[Term]
id: MONDO:0009747
name: Navajo neurohepatopathy
subset: ordo_disease {source="Orphanet:255229"}
synonym: "mitochondrial DNA depletion syndrome 6" RELATED [DOID:0080125, GARD:0003972]
synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" RELATED [MONDO:Lexical, OMIM:256810]
synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type); MTDPS6" RELATED [OMIM:256810]
synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" RELATED [GARD:0003972]
synonym: "MTDPS6" RELATED [MONDO:Lexical, OMIM:256810]
synonym: "Navajo familial neurogenic arthropathy" RELATED [OMIM:256810]
synonym: "Navajo neurohepatopathy" EXACT [OMIM:256810]
synonym: "Navajo neuropathy" EXACT [OMIM:256810, Orphanet:255229]
synonym: "NN" RELATED [GARD:0003972]
xref: DOID:0080125 {source="MONDO:equivalentTo"}
xref: GARD:0003972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C538344 {source="MONDO:equivalentTo"}
xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="ORDO:255229/e"}
xref: Orphanet:255229 {source="MONDO:equivalentTo", source="OMIM:256810"}
is_a: MONDO:0016808 {source="Orphanet:255229"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850407
property_value: exactMatch DOID:0080125
property_value: exactMatch http://identifiers.org/mesh/C538344
property_value: exactMatch http://identifiers.org/omim/256810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850406
property_value: exactMatch Orphanet:255229

[Term]
id: MONDO:0009748
name: hereditary sensory and autonomic neuropathy with spastic paraplegia
def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." [Orphanet:139578]
subset: ordo_disease {source="Orphanet:139578"}
synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578]
synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840]
xref: ICD10:G60.8 {source="Orphanet:139578", source="ORDO:139578/attributed", source="ORDO:139578/ntbt"}
xref: MESH:C564948 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256840 {source="Orphanet:139578", source="ORDO:139578/e", source="MONDO:equivalentTo"}
xref: Orphanet:139578 {source="MONDO:equivalentTo", source="OMIM:256840"}
xref: SCTID:717827000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850395 {source="Orphanet:139578", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256840"}
xref: UMLS:C4303565 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:139578"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015366 {source="Orphanet:139578"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564948
property_value: exactMatch http://identifiers.org/omim/256840
property_value: exactMatch http://identifiers.org/snomedct/717827000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303565
property_value: exactMatch Orphanet:139578

[Term]
id: MONDO:0009749
name: giant axonal neuropathy 1
def: "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." [Orphanet:643]
subset: ordo_disease {source="Orphanet:643"}
synonym: "gan" EXACT [OMIM:256850, Orphanet:643]
synonym: "GAN giant axonal neuropathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "gan giant axonal neuropathy" EXACT [MONDO:design_pattern]
synonym: "GAN1" RELATED [MONDO:Lexical, OMIM:256850]
synonym: "giant axonal neuropathy 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:256850]
synonym: "giant axonal neuropathy 1, autosomal recessive; GAN1" RELATED [OMIM:256850]
synonym: "giant axonal neuropathy caused by mutation in GAN" EXACT []
synonym: "giant axonal neuropathy caused by mutation in gan" EXACT [MONDO:design_pattern]
synonym: "giant axonal neuropathy type 1" EXACT [DOID:0090068, MONDORULE:1]
synonym: "neuropathy, giant axonal" RELATED [GARD:0006500]
xref: DOID:0090068 {source="MONDO:equivalentTo"}
xref: GARD:0006500 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.8 {source="Orphanet:643", source="ORDO:643/attributed", source="ORDO:643/ntbt"}
xref: OMIM:256850 {source="Orphanet:643", source="MONDO:equivalentTo", source="DOID:0090068", source="ORDO:643/e"}
xref: Orphanet:643 {source="MONDO:equivalentTo", source="OMIM:256850", source="DOID:0090068"}
is_a: MONDO:0000128 {source="DC-OMIM:256850", source="MONDO:Redundant", source="MONDOLEX:0009749", source="OMIM:256850"} ! giant axonal neuropathy
is_a: MONDO:0020127 {source="Orphanet:643"} ! genetic peripheral neuropathy
property_value: exactMatch DOID:0090068
property_value: exactMatch http://identifiers.org/omim/256850
property_value: exactMatch Orphanet:643

[Term]
id: MONDO:0009750
name: neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
synonym: "Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive" RELATED [OMIM:256855]
synonym: "HMSN with excessive myelin Outfolding, autosomal recessive" RELATED [OMIM:256855]
synonym: "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" EXACT [OMIM:256855]
xref: MESH:C564947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256855 {source="MONDO:equivalentTo"}
xref: UMLS:C1850385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256855"}
is_a: MONDO:0003847 {source="MESH:C564947/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564947
property_value: exactMatch http://identifiers.org/omim/256855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850385

[Term]
id: MONDO:0009751
name: neuropathy, hereditary sensory, atypical
def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." [DOID:0070160]
synonym: "atypical hereditary sensory neuropathy" RELATED [DOID:0070160]
synonym: "neuropathy, hereditary sensory, atypical" EXACT [OMIM:256860]
xref: DOID:0070160 {source="MONDO:equivalentTo"}
xref: MESH:C564946 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256860 {source="MONDO:equivalentTo", source="DOID:0070160"}
xref: UMLS:C1850384 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256860"}
is_a: MONDO:0015364 {source="DC-OMIM:256860", source="DOID:0070160", source="MONDOLEX:0009751"} ! hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070160
property_value: exactMatch http://identifiers.org/mesh/C564946
property_value: exactMatch http://identifiers.org/omim/256860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850384

[Term]
id: MONDO:0009752
name: neuropathy, painful
synonym: "neuropathy, painful" EXACT [OMIM:256870]
xref: MESH:C564945 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:256870 {source="MONDO:equivalentTo"}
xref: UMLS:C1850383 {source="OMIM:256870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564945
property_value: exactMatch http://identifiers.org/omim/256870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850383

[Term]
id: MONDO:0009753
name: obsolete neurovisceral storage disease with Curvilinear bodies
comment: https://github.com/monarch-initiative/hpo-annotation-data/issues/260
synonym: "neurovisceral storage disease with Curvilinear bodies" EXACT [OMIM:257000]
xref: MESH:C564944 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257000 {source="MONDO:equivalentTo"}
xref: UMLS:C1850382 {source="OMIM:257000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C564944/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564944
property_value: exactMatch http://identifiers.org/omim/257000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850382
is_obsolete: true

[Term]
id: MONDO:0009754
name: neutropenia, lethal congenital, with eosinophilia
subset: gard_rare {source="GARD:0006107"}
synonym: "lethal congenital neutropenia with eosinophilia" RELATED [GARD:0006107]
synonym: "neutropenia lethal congenital with eosinophilia" RELATED [GARD:0006107]
synonym: "neutropenia, lethal congenital, with eosinophilia" EXACT [OMIM:257100]
xref: GARD:0006107 {source="MONDO:equivalentTo"}
xref: MESH:C564943 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257100 {source="MONDO:equivalentTo"}
xref: UMLS:C1850381 {source="NCBI:mim2gene_medline", source="OMIM:257100", source="MONDO:equivalentTo"}
is_a: MONDO:0008742 {source="ORDO:486/btnt"} ! autosomal dominant severe congenital neutropenia
property_value: exactMatch http://identifiers.org/mesh/C564943
property_value: exactMatch http://identifiers.org/omim/257100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850381
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia xsd:anyURI {source="GARD:0006107"}

[Term]
id: MONDO:0009755
name: neutrophil actin dysfunction
def: "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." [NCIT:C3694]
synonym: "Atypical Nevus" EXACT [NCIT:C3694]
synonym: "Clark Nevus" EXACT [NCIT:C3694]
synonym: "Clark's Nevus" EXACT [NCIT:C3694]
synonym: "dysplastic nevi" EXACT [NCIT:C3694]
synonym: "dysplastic Nevus" EXACT [NCIT:C3694]
synonym: "dysplastic nevus" EXACT [NCIT:C3694]
synonym: "lentiginous Nevus" EXACT [NCIT:C3694]
synonym: "NAD" RELATED [MONDO:Lexical, OMIM:257150]
synonym: "neutrophil actin dysfunction" EXACT [MONDO:Lexical, OMIM:257150]
synonym: "neutrophil actin dysfunction; NAD" RELATED [OMIM:257150]
synonym: "Nevus with architectural disorder" EXACT [NCIT:C3694]
synonym: "Nevus with architectural disorder and cytologic atypia of melanocytes" EXACT [NCIT:C3694]
xref: MESH:C564942 {source="MONDO:equivalentTo"}
xref: NCIT:C3694 {source="MONDO:equivalentTo"}
xref: OMIM:257150 {source="MONDO:equivalentTo"}
xref: UMLS:C1850380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257150"}
is_a: MONDO:0005073 {source="NCIT:C3694"} ! melanocytic nevus
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/mesh/C564942
property_value: exactMatch http://identifiers.org/omim/257150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850380
property_value: exactMatch NCIT:C3694

[Term]
id: MONDO:0009756
name: Niemann-Pick disease type A
def: "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." [Orphanet:77292]
subset: ordo_disease {source="Orphanet:77292"}
synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [OMIM:257200]
synonym: "Niemann-PICK disease, type A" RELATED [OMIM:257200]
synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200]
synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200]
xref: DOID:0070111 {source="MONDO:equivalentTo"}
xref: GARD:0007206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="DOID:0070111", source="ORDO:77292/ntbt", source="Orphanet:77292", source="ORDO:77292/inclusion"}
xref: MESH:D052536 {source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"}
xref: NCIT:C126561 {source="MONDO:kboom-pr-1.00/0.78/7.21", source="MONDO:equivalentTo"}
xref: OMIM:257200 {source="DOID:0070111", source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"}
xref: Orphanet:77292 {source="OMIM:257200", source="MONDO:equivalentTo"}
xref: SCTID:52165006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268242 {source="NCIT:C126561", source="OMIM:257200", source="NCBI:mim2gene_medline", source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"}
is_a: MONDO:0001982 {source="DC-OMIM:257200", source="DOID:0070111", source="MESH:D052536", source="NCIT:C126561", source="Orphanet:77292"} ! Niemann-Pick disease
is_a: MONDO:0018299 {source="Orphanet:77292"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019058 {source="Orphanet:77292"} ! neurometabolic disease
is_a: MONDO:0020282 {source="Orphanet:77292"} ! metabolic disease with macular cherry-red spot
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675646
property_value: exactMatch DOID:0070111
property_value: exactMatch http://identifiers.org/mesh/D052536
property_value: exactMatch http://identifiers.org/omim/257200
property_value: exactMatch http://identifiers.org/snomedct/52165006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268242
property_value: exactMatch NCIT:C126561
property_value: exactMatch Orphanet:77292

[Term]
id: MONDO:0009757
name: Niemann-Pick disease, type C1
def: "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." [NCIT:C126864]
synonym: "neurovisceral storage disease with vertical supranuclear ophthalmoplegia" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease type C1" RELATED [DOID:0070113, GARD:0007207]
synonym: "Niemann-Pick disease with cholesterol esterification block" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease without sphingomyelinase deficiency" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, chronic neuronopathic form" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, nova Scotian type" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, subacute juvenile form" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, type C" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, type C1" EXACT [MONDO:Lexical, OMIM:257220]
synonym: "Niemann-PICK disease, type C1; NPC1" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, type D" RELATED [OMIM:257220]
synonym: "NPC1" RELATED [MONDO:Lexical, OMIM:257220]
synonym: "type C1 Niemann-Pick disease" EXACT [NCIT:C126864]
xref: DOID:0070113 {source="MONDO:equivalentTo"}
xref: GARD:0007207 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E75.2 {source="DOID:0070113"}
xref: NCIT:C126864 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: OMIM:257220 {source="DOID:0070113", source="MONDO:equivalentTo"}
xref: SCTID:18927009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.46/0.21"}
xref: UMLS:C3179455 {source="OMIM:257220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126864"}
is_a: MONDO:0018982 {source="MONDOLEX:0009757"} ! Niemann-Pick disease type C
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268247
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850363
property_value: exactMatch DOID:0070113
property_value: exactMatch http://identifiers.org/omim/257220
property_value: exactMatch http://identifiers.org/snomedct/18927009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3179455
property_value: exactMatch NCIT:C126864

[Term]
id: MONDO:0009758
name: congenital stationary night blindness 1B
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [DOID:0110865]
synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [DOID:0110865]
synonym: "congenital stationary night blindness caused by mutation in GRM6" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1B" EXACT [DOID:0110865, MONDORULE:4]
synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:257270]
synonym: "CSNB1B" EXACT [DOID:0110865, MONDO:Lexical, OMIM:257270]
synonym: "GRM6 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [OMIM:257270]
synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical, OMIM:257270]
synonym: "night blindness, congenital stationary, type 1B; CSNB1B" RELATED [OMIM:257270]
xref: DOID:0110865 {source="MONDO:equivalentTo"}
xref: OMIM:257270 {source="DOID:0110865", source="MONDO:equivalentTo"}
xref: UMLS:C1850362 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257270"}
is_a: MONDO:0016293 {source="DC-OMIM:257270", source="DOID:0110865", source="MONDO:Redundant", source="MONDOLEX:0009758", source="OMIM:257270"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110865
property_value: exactMatch http://identifiers.org/omim/257270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850362

[Term]
id: MONDO:0009759
name: mosaic variegated aneuploidy syndrome 1
def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BUB1B mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mosaic variegated aneuploidy syndrome 1" EXACT [MONDO:Lexical, OMIM:257300]
synonym: "MOSAIC variegated aneuploidy syndrome 1; MVA1" RELATED [OMIM:257300]
synonym: "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" EXACT [MONDO:design_pattern]
synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1, OMIM:257300]
synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [DOID:0080141, MONDORULE:1]
synonym: "MVA syndrome" RELATED [OMIM:257300]
synonym: "MVA1" RELATED [MONDO:Lexical, OMIM:257300]
xref: DOID:0080141 {source="MONDO:equivalentTo"}
xref: OMIM:257300 {source="DOID:0080141", source="MONDO:equivalentTo", source="Orphanet:1052"}
xref: UMLS:CN031748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000141 {source="DC-OMIM:257300", source="MONDO:Redundant", source="OMIM:257300"} ! mosaic variegated aneuploidy syndrome
property_value: exactMatch DOID:0080141
property_value: exactMatch http://identifiers.org/omim/257300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031748

[Term]
id: MONDO:0009760
name: Norman-Roberts syndrome
def: "Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." [Orphanet:89844]
subset: ordo_clinical_subtype {source="Orphanet:89844"}
synonym: "LIS2" RELATED [MONDO:Lexical, OMIM:257320]
synonym: "lissencephaly 2" EXACT [DOID:0060902, MONDO:Lexical, OMIM:257320]
synonym: "lissencephaly 2; LIS2" RELATED [OMIM:257320]
synonym: "lissencephaly syndrome Norman-Roberts type" RELATED [GARD:0003277]
synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [DOID:0060902, OMIM:257320]
synonym: "lissencephaly type 2" EXACT [MONDORULE:1, OMIM:257320]
synonym: "Microlissencephaly type A" EXACT [Orphanet:89844]
synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277]
synonym: "Norman-Roberts syndrome" EXACT [OMIM:257320]
xref: DOID:0060902 {source="MONDO:equivalentTo"}
xref: GARD:0003277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="Orphanet:89844", source="ORDO:89844/attributed", source="ORDO:89844/ntbt", source="DOID:0060902"}
xref: OMIM:257320 {source="ORDO:89844/e", source="Orphanet:89844", source="MONDO:equivalentTo", source="DOID:0060902"}
xref: Orphanet:89844 {source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"}
xref: SCTID:717977003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.46/0.22"}
xref: UMLS:C0796089 {source="ORDO:89844/e", source="Orphanet:89844", source="NCBI:mim2gene_medline", source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"}
is_a: MONDO:0015204 {source="MONDOLEX:0009760", source="Orphanet:89844"} ! microlissencephaly
is_a: MONDO:0018722 {source="Orphanet:89844"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:89844"} ! syndromic lymphedema
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch DOID:0060902
property_value: exactMatch http://identifiers.org/mesh/C537848
property_value: exactMatch http://identifiers.org/omim/257320
property_value: exactMatch http://identifiers.org/snomedct/717977003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796089
property_value: exactMatch Orphanet:89844

[Term]
id: MONDO:0009761
name: cystic hygroma
def: "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." [NCIT:C3724]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:79486"}
synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724]
synonym: "cystic hygroma, fetal" RELATED [OMIM:257350]
synonym: "cystic lymphangioma" EXACT [GARD:0006234, NCIT:C3724]
synonym: "hygroma" EXACT [NCIT:C3724]
synonym: "macrocystic lymphatic malformation" RELATED [GARD:0006234]
synonym: "nuchal bleb, familial" RELATED [OMIM:257350]
xref: DOID:3081 {source="MONDO:equivalentTo", source="EFO:1000888"}
xref: EFO:1000888 {source="MONDO:equivalentTo"}
xref: GARD:0006234 {source="MONDO:equivalentTo"}
xref: ICD10:D18.1 {source="ORDO:79486/ntbt", source="Orphanet:79486"}
xref: ICDO:9173/0 {source="NCIT:C3724"}
xref: MedDRA:10058949 {source="EFO:1000888"}
xref: MESH:D018191 {source="MONDO:equivalentTo", source="DOID:3081", source="EFO:1000888"}
xref: NCIT:C3724 {source="kboom:pr0.78-conf7.23", source="MONDO:equivalentTo", source="DOID:3081"}
xref: OMIM:257350 {source="MONDO:equivalentTo", source="ORDO:79486/e", source="Orphanet:79486", source="GARD:0006234"}
xref: Orphanet:79486 {source="OMIM:257350", source="MONDO:equivalentTo"}
xref: SCTID:399882002 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo", source="DOID:3081"}
is_a: MONDO:0018720 {source="Orphanet:79486"} ! common cystic lymphatic malformation
property_value: closeMatch http://identifiers.org/meddra/10058949
property_value: closeMatch http://identifiers.org/snomedct/40225001
property_value: closeMatch http://identifiers.org/snomedct/423984004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206620
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0948242
property_value: closeMatch Orphanet:137923
property_value: exactMatch DOID:3081
property_value: exactMatch http://identifiers.org/mesh/D018191
property_value: exactMatch http://identifiers.org/omim/257350
property_value: exactMatch http://identifiers.org/snomedct/399882002
property_value: exactMatch NCIT:C3724
property_value: exactMatch Orphanet:79486

[Term]
id: MONDO:0009762
name: nystagmus, congenital, autosomal recessive
synonym: "Nystagmus, congenital motor, autosomal recessive" RELATED [GARD:0009609]
synonym: "nystagmus, congenital, autosomal recessive" EXACT [OMIM:257400]
xref: GARD:0009609 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564938 {source="MONDO:equivalentTo"}
xref: OMIM:257400 {source="MONDO:equivalentTo"}
xref: UMLS:C3151571 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257400"}
is_a: MONDO:0005712 {source="DC-OMIM:257400", source="OMIM:257400"} ! congenital nystagmus
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C564938
property_value: exactMatch http://identifiers.org/omim/257400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151571

[Term]
id: MONDO:0009763
name: obesity-hypoventilation syndrome
def: "hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." [MESH:D010845]
synonym: "obesity-hypoventilation syndrome" EXACT [OMIM:257500]
synonym: "Pickwickian syndrome" RELATED [OMIM:257500]
xref: ICD9:786.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010845 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257500 {source="MONDO:equivalentTo"}
xref: SCTID:190966007 {source="MONDO:kboom-pr-0.99/0.73/5.15", source="MONDO:equivalentTo"}
xref: UMLS:C0031880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257500"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/D010845
property_value: exactMatch http://identifiers.org/omim/257500
property_value: exactMatch http://identifiers.org/snomedct/190966007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031880

[Term]
id: MONDO:0009764
name: ocular motor apraxia, Cogan type
def: "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." [Orphanet:1125]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1125"}
synonym: "Cogan syndrome type 2" RELATED []
synonym: "Cogan's syndrome type 2" RELATED [GARD:0000016]
synonym: "COMA" RELATED [GARD:0000016]
synonym: "congenital oculomotor apraxia" RELATED [GARD:0000016]
synonym: "ocular motor apraxia" RELATED [OMIM:257550]
synonym: "oculomotor apraxia Cogan type" RELATED [GARD:0000016]
synonym: "oculomotor apraxia, Cogan type" EXACT [OMIM:257550, Orphanet:1125]
synonym: "saccade initiation failure congenital" RELATED [GARD:0000016]
synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550]
xref: GARD:0000016 {source="MONDO:equivalentTo"}
xref: ICD10:H51.8 {source="ORDO:1125/index", source="Orphanet:1125", source="ORDO:1125/ntbt"}
xref: MESH:C537423 {source="Orphanet:1125", source="ORDO:1125/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257550 {source="Orphanet:1125", source="ORDO:1125/e", source="MONDO:equivalentTo", source="GARD:0000016"}
xref: Orphanet:1125 {source="OMIM:257550", source="MONDO:equivalentTo", source="GARD:0000016"}
xref: SCTID:405809000 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
is_a: MONDO:0020258 {source="Orphanet:1125"} ! oculomotor apraxia or related oculomotor disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271270
property_value: exactMatch http://identifiers.org/mesh/C537423
property_value: exactMatch http://identifiers.org/omim/257550
property_value: exactMatch http://identifiers.org/snomedct/405809000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543874
property_value: exactMatch Orphanet:1125

[Term]
id: MONDO:0009765
name: ocular myopathy with curare sensitivity
synonym: "ocular myopathy with curare sensitivity" EXACT [OMIM:257600]
xref: MESH:C564937 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257600 {source="MONDO:equivalentTo"}
xref: UMLS:C1850341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257600"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564937
property_value: exactMatch http://identifiers.org/omim/257600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850341

[Term]
id: MONDO:0009766
name: oculocerebral hypopigmentation syndrome of Preus
synonym: "oculocerebral hypopigmentation syndrome of Preus" EXACT [OMIM:257790]
synonym: "oculocerebral hypopigmentation syndrome type Preus" RELATED [GARD:0004034]
xref: GARD:0004034 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:257790 {source="MONDO:equivalentTo"}
xref: SCTID:716174001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.85"}
xref: UMLS:C2931646 {source="OMIM:257790", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850340
property_value: closeMatch Orphanet:2720
property_value: exactMatch http://identifiers.org/omim/257790
property_value: exactMatch http://identifiers.org/snomedct/716174001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931646

[Term]
id: MONDO:0009767
name: oculocerebral hypopigmentation syndrome, Cross type
def: "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." [Orphanet:2719]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2719"}
synonym: "Cross syndrome" EXACT [GARD:0000105, OMIM:257800, Orphanet:2719]
synonym: "hypopigmentation oculocerebral syndrome Cross type" RELATED [GARD:0000105]
synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800]
synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105]
synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800]
xref: GARD:0000105 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="ORDO:2719/inclusion", source="ORDO:2719/ntbt", source="Orphanet:2719"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:257800 {source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719", source="ORDO:2719/e"}
xref: Orphanet:2719 {source="GARD:0000105", source="MONDO:equivalentTo", source="OMIM:257800"}
xref: SCTID:17827007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015336 {source="Orphanet:2719"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017305 {source="Orphanet:2719"} ! syndromic oculocutaneous albinism
property_value: exactMatch http://identifiers.org/omim/257800
property_value: exactMatch http://identifiers.org/snomedct/17827007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268496
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936910
property_value: exactMatch Orphanet:2719

[Term]
id: MONDO:0009768
name: oculodentodigital dysplasia, autosomal recessive
def: "Autosomal recessive form of oculodentodigital dysplasia." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive oculodentodigital dysplasia" EXACT [MONDO:design_pattern]
synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:257850]
synonym: "oculodentoosseous dysplasia recessive" RELATED [GARD:0004045]
synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850]
synonym: "ODDD, autosomal recessive" RELATED [OMIM:257850]
synonym: "ODOD recessive" RELATED [GARD:0004045]
synonym: "ODOD, autosomal recessive" RELATED [OMIM:257850]
xref: GARD:0004045 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567605 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257850 {source="MONDO:equivalentTo"}
xref: UMLS:C2749477 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257850"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0008111 {source="MONDO:Redundant", source="ORDO:2710/btnt"} ! oculodentodigital dysplasia
property_value: exactMatch http://identifiers.org/mesh/C567605
property_value: exactMatch http://identifiers.org/omim/257850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749477

[Term]
id: MONDO:0009769
name: oculo-palato-cerebral syndrome
def: "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." [Orphanet:2714]
subset: ordo_malformation_syndrome {source="Orphanet:2714"}
synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714]
synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910]
synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910]
synonym: "OPC dwarfism" RELATED [OMIM:257910]
xref: ICD10:Q87.1 {source="ORDO:2714/attributed", source="ORDO:2714/ntbt", source="Orphanet:2714"}
xref: MESH:C564935 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257910 {source="MONDO:equivalentTo", source="ORDO:2714/e", source="Orphanet:2714"}
xref: Orphanet:2714 {source="MONDO:equivalentTo", source="OMIM:257910"}
xref: SCTID:722055008 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
xref: UMLS:C1850338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257910", source="Orphanet:2714"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2714", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2714"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2714"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C564935
property_value: exactMatch http://identifiers.org/omim/257910
property_value: exactMatch http://identifiers.org/snomedct/722055008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850338
property_value: exactMatch Orphanet:2714

[Term]
id: MONDO:0009770
name: 3MC syndrome 1
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920]
synonym: "3MC syndrome 1; 3MC1" RELATED [OMIM:257920]
synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1]
synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1, OMIM:257920]
synonym: "3MC1" RELATED [MONDO:Lexical, OMIM:257920]
synonym: "craniosynostosis with 51D anomalies" RELATED [OMIM:257920]
synonym: "MASP1 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Michels syndrome" RELATED [OMIM:257920]
synonym: "Michels syndrome, formerly" RELATED [OMIM:257920]
synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920]
xref: DOID:0060575 {source="MONDO:equivalentTo"}
xref: EFO:1001978 {source="MONDO:equivalentTo"}
xref: OMIM:257920 {source="DOID:0060575", source="MONDO:equivalentTo"}
xref: Orphanet:2506 {source="MONDO:obsoleteEquivalent", source="OMIM:257920"}
xref: UMLS:C0796059 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257920"}
is_a: MONDO:0017398 {source="DC-OMIM:257920", source="DOID:0060575", source="EFO:1001978", source="MONDO:Redundant", source="OMIM:257920"} ! 3MC syndrome
property_value: exactMatch DOID:0060575
property_value: exactMatch http://identifiers.org/omim/257920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796059
property_value: exactMatch Orphanet:2506

[Term]
id: MONDO:0009771
name: oculotrichodysplasia
def: "Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2718]
subset: ordo_malformation_syndrome {source="Orphanet:2718"}
synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718]
synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960]
synonym: "oculotrichodysplasia; OTD" RELATED [OMIM:257960]
synonym: "OTD" RELATED [MONDO:Lexical, OMIM:257960]
xref: MESH:C564934 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257960 {source="MONDO:equivalentTo", source="ORDO:2718/e", source="Orphanet:2718"}
xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"}
xref: SCTID:722062004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1850332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257960", source="Orphanet:2718"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:2718", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020240 {source="Orphanet:2718"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C564934
property_value: exactMatch http://identifiers.org/omim/257960
property_value: exactMatch http://identifiers.org/snomedct/722062004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850332
property_value: exactMatch Orphanet:2718

[Term]
id: MONDO:0009772
name: oculorenocerebellar syndrome
subset: gard_rare {source="GARD:0004050"}
subset: ordo_malformation_syndrome
synonym: "absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" RELATED [GARD:0004050]
synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970]
synonym: "ORC syndrome" RELATED [OMIM:257970]
xref: GARD:0004050 {source="MONDO:equivalentTo"}
xref: MESH:C537739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:257970 {source="MONDO:equivalentTo", source="Orphanet:2715"}
xref: Orphanet:2715 {source="OMIM:257970", source="MONDO:equivalentTo"}
xref: UMLS:C1850331 {source="OMIM:257970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2715"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015163 {source="Orphanet:2715"} ! primary glomerular disease
is_a: MONDO:0020253 {source="Orphanet:2715"} ! syndrome with a symptomatic strabismus
property_value: exactMatch http://identifiers.org/mesh/C537739
property_value: exactMatch http://identifiers.org/omim/257970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850331
property_value: exactMatch Orphanet:2715
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome xsd:anyURI {source="GARD:0004050"}

[Term]
id: MONDO:0009773
name: odonto-onycho-dermal dysplasia
def: "Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." [Orphanet:2721]
subset: ordo_disease {source="Orphanet:2721"}
synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980]
synonym: "odontoonychodermal dysplasia; OODD" RELATED [OMIM:257980]
synonym: "OODD" EXACT [MONDO:Lexical, OMIM:257980, Orphanet:2721]
xref: GARD:0004054 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="ORDO:2721/attributed", source="ORDO:2721/ntbt", source="Orphanet:2721"}
xref: MESH:C537742 {source="ORDO:2721/e", source="MONDO:equivalentTo", source="Orphanet:2721"}
xref: OMIM:257980 {source="ORDO:2721/e", source="MONDO:equivalentTo", source="Orphanet:2721"}
xref: Orphanet:2721 {source="OMIM:257980", source="MONDO:equivalentTo"}
xref: SCTID:403762003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0796093 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:257980", source="MONDO:equivalentTo", source="Orphanet:2721"}
is_a: MONDO:0015336 {source="Orphanet:2721"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017671 {source="Orphanet:2721"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537742
property_value: exactMatch http://identifiers.org/omim/257980
property_value: exactMatch http://identifiers.org/snomedct/403762003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275074
property_value: exactMatch Orphanet:2721

[Term]
id: MONDO:0009774
name: cloacal exstrophy (disease)
def: "Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." [Orphanet:93929]
subset: ordo_clinical_subtype {source="Orphanet:93929"}
synonym: "cloacal exstrophy" EXACT [MONDO:ambiguous]
synonym: "cloacal exstrophy sequence" RELATED [GARD:0004080]
synonym: "OEIS complex" EXACT [OMIM:258040, Orphanet:93929]
synonym: "OEIS syndrome" EXACT [NCIT:C99142]
synonym: "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" RELATED [GARD:0004080]
synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" RELATED [GARD:0004080]
synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex" RELATED [GARD:0004080]
synonym: "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" EXACT [Orphanet:93929]
synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:258040]
xref: DOID:0080175 {source="MONDO:equivalentTo"}
xref: GARD:0004080 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0010475 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.1 {source="Orphanet:93929", source="ORDO:93929/attributed", source="ORDO:93929/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067424 {source="Orphanet:93929", source="ORDO:93929/e"}
xref: MESH:C537748 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99142 {source="MONDO:equivalentTo"}
xref: OMIM:258040 {source="Orphanet:93929", source="MONDO:equivalentTo", source="ORDO:93929/e"}
xref: Orphanet:93929 {source="MONDO:equivalentTo", source="OMIM:258040"}
xref: SCTID:20815007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.48"}
xref: UMLS:C1850321 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:93929", source="NCIT:C99142", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258040"}
is_a: MONDO:0015216 ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015246 {source="Orphanet:93929"} ! syndromic anorectal malformation
is_a: MONDO:0015620 ! syndromic urogenital tract malformation
is_a: MONDO:0017919 {source="DOID:0080175", source="Orphanet:93929"} ! bladder exstrophy-epispadias-cloacal exstrophy complex
is_a: MONDO:0019721 ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345217
property_value: exactMatch DOID:0080175
property_value: exactMatch http://identifiers.org/meddra/10067424
property_value: exactMatch http://identifiers.org/mesh/C537748
property_value: exactMatch http://identifiers.org/omim/258040
property_value: exactMatch http://identifiers.org/snomedct/20815007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850321
property_value: exactMatch NCIT:C99142
property_value: exactMatch Orphanet:93929

[Term]
id: MONDO:0009775
name: Oguchi disease-1
def: "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness Oguchi type 1" EXACT [DOID:0110712]
synonym: "CSNBO1" EXACT [DOID:0110712]
synonym: "night blindness, congenital stationary, Oguchi type 1" RELATED [OMIM:258100]
synonym: "Oguchi disease 1" RELATED [OMIM:258100]
synonym: "Oguchi disease caused by mutation in SAG" EXACT [MONDO:design_pattern]
synonym: "Oguchi disease type 1" EXACT [MONDORULE:1, OMIM:258100]
synonym: "SAG Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110712 {source="MONDO:equivalentTo"}
xref: OMIM:258100 {source="DOID:0110712", source="MONDO:equivalentTo"}
is_a: MONDO:0019152 ! Oguchi disease
relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110712"} ! hereditary night blindness
property_value: exactMatch DOID:0110712
property_value: exactMatch http://identifiers.org/omim/258100

[Term]
id: MONDO:0009776
name: spermatogenic failure 1
synonym: "Oligochiasmatic infertility" RELATED [OMIM:258150]
synonym: "Oligosynaptic infertility" RELATED [OMIM:258150]
synonym: "spermatogenic failure 1" RELATED [MONDO:Lexical, OMIM:258150]
synonym: "spermatogenic failure 1; SPGF1" RELATED [OMIM:258150]
synonym: "SPGF1" EXACT [MONDO:Lexical, OMIM:258150]
xref: DOID:0070188 {source="MONDO:equivalentTo"}
xref: MESH:C562902 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258150 {source="MONDO:equivalentTo"}
xref: Orphanet:217034 {source="MONDO:obsoleteEquivalent", source="OMIM:258150"}
xref: SCTID:236803007 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:C0403810 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258150"}
is_a: MONDO:0004983 {source="DC-OMIM:258150", source="OMIM:258150"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070188
property_value: exactMatch http://identifiers.org/mesh/C562902
property_value: exactMatch http://identifiers.org/omim/258150
property_value: exactMatch http://identifiers.org/snomedct/236803007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403810
property_value: exactMatch Orphanet:217034

[Term]
id: MONDO:0009777
name: Oliver syndrome
def: "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." [Orphanet:2920]
subset: gard_rare {source="GARD:0004069"}
subset: ordo_malformation_syndrome {source="Orphanet:2920"}
synonym: "Oliver syndrome" EXACT [OMIM:258200]
synonym: "postaxial polydactyly and mental retardation" RELATED [OMIM:258200]
synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920]
xref: GARD:0004069 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:2920/attributed", source="ORDO:2920/ntbt", source="Orphanet:2920"}
xref: MESH:C564931 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="ORDO:2920/e"}
xref: Orphanet:2920 {source="OMIM:258200", source="MONDO:equivalentTo"}
xref: SCTID:721017000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1850320 {source="NCBI:mim2gene_medline", source="OMIM:258200", source="MONDO:equivalentTo", source="Orphanet:2920"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2920", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2920"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017434 {source="Orphanet:2920"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564931
property_value: exactMatch http://identifiers.org/omim/258200
property_value: exactMatch http://identifiers.org/snomedct/721017000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850320
property_value: exactMatch Orphanet:2920
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome xsd:anyURI {source="GARD:0004069"}

[Term]
id: MONDO:0009778
name: olivopontocerebellar atrophy II, autosomal recessive
synonym: "olivopontocerebellar atrophy II, autosomal recessive" EXACT [OMIM:258300]
synonym: "OPCA II, Fickler-Winkler type" RELATED [OMIM:258300]
xref: MESH:C564930 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258300 {source="MONDO:equivalentTo"}
xref: UMLS:C1850319 {source="OMIM:258300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564930/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564930
property_value: exactMatch http://identifiers.org/omim/258300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850319

[Term]
id: MONDO:0009779
name: autosomal recessive omodysplasia
def: "Autosomal recessive form of omodysplasia." [MONDO:patterns/autosomal_recessive]
subset: ordo_clinical_subtype {source="Orphanet:93329"}
synonym: "micromelic dysplasia congenita with dislocation of radius" RELATED [GARD:0004076]
synonym: "micromelic dysplasia, congenital, with dislocation of radius" RELATED [OMIM:258315]
synonym: "micromelic dysplasia-dislocation of radius syndrome" EXACT [Orphanet:93329]
synonym: "OMOD1" RELATED [MONDO:Lexical, OMIM:258315]
synonym: "omodysplasia 1" RELATED [MONDO:Lexical, OMIM:258315]
synonym: "omodysplasia 1; OMOD1" RELATED [OMIM:258315]
synonym: "omodysplasia autosomal recessive" RELATED [GARD:0004076]
synonym: "omodysplasia generalized form" RELATED [GARD:0004076]
synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315]
synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315]
synonym: "omodysplasia, generalized form" RELATED [OMIM:258315]
xref: GARD:0004076 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:93329/attributed", source="ORDO:93329/ntbt", source="Orphanet:93329"}
xref: OMIM:258315 {source="MONDO:equivalentTo", source="ORDO:93329/e", source="Orphanet:93329"}
xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"}
xref: SCTID:725166005 {source="MONDO:equivalentTo"}
xref: UMLS:C1850318 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258315", source="Orphanet:93329", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017136 {source="DC-OMIM:258315", source="MONDO:Redundant", source="Orphanet:93329"} ! omodysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936816
property_value: exactMatch http://identifiers.org/omim/258315
property_value: exactMatch http://identifiers.org/snomedct/725166005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850318
property_value: exactMatch Orphanet:93329

[Term]
id: MONDO:0009780
name: lethal omphalocele-cleft palate syndrome
def: "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." [Orphanet:2736]
subset: gard_rare {source="GARD:0004079"}
subset: ordo_malformation_syndrome {source="Orphanet:2736"}
synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [OMIM:258320]
synonym: "Czeizel syndrome" EXACT [Orphanet:2736]
synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079]
synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320]
xref: GARD:0004079 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2736/attributed", source="ORDO:2736/ntbt", source="Orphanet:2736"}
xref: MESH:C537747 {source="MONDO:equivalentTo", source="ORDO:2736/e", source="MONDO:ontobio", source="Orphanet:2736"}
xref: OMIM:258320 {source="MONDO:equivalentTo", source="ORDO:2736/e", source="Orphanet:2736"}
xref: Orphanet:2736 {source="OMIM:258320", source="MONDO:equivalentTo"}
xref: SCTID:719408007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.72/4.81"}
xref: UMLS:C1850317 {source="OMIM:258320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2736/e", source="Orphanet:2736"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2736", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2736"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:2736"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015335 {source="Orphanet:2736"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C537747
property_value: exactMatch http://identifiers.org/omim/258320
property_value: exactMatch http://identifiers.org/snomedct/719408007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850317
property_value: exactMatch Orphanet:2736
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal xsd:anyURI {source="GARD:0004079"}

[Term]
id: MONDO:0009781
name: Onychotrichodysplasia and neutropenia
subset: gard_rare {source="GARD:0010161"}
synonym: "onycho-tricho-dysplasia-neutropenia syndrome" EXACT [Orphanet:2739]
synonym: "Onychotrichodysplasia and neutropenia" EXACT [OMIM:258360]
xref: GARD:0010161 {source="MONDO:equivalentTo"}
xref: MESH:C537752 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258360 {source="MONDO:equivalentTo"}
xref: Orphanet:2739 {source="MONDO:equivalentTo", source="OMIM:258360"}
xref: UMLS:C1850316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258360"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537752
property_value: exactMatch http://identifiers.org/omim/258360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850316
property_value: exactMatch Orphanet:2739
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia xsd:anyURI {source="GARD:0010161"}

[Term]
id: MONDO:0009782
name: ophthalmoplegia totalis with ptosis and miosis
synonym: "ophthalmoplegia totalis with ptosis and miosis" EXACT [OMIM:258400]
xref: MESH:C564927 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258400 {source="MONDO:equivalentTo"}
xref: UMLS:C1850314 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564927
property_value: exactMatch http://identifiers.org/omim/258400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850314

[Term]
id: MONDO:0009783
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arPEO" RELATED [GARD:0001191]
synonym: "autosomal recessive progressive external ophthalmoplegia" RELATED [GARD:0001191]
synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern]
synonym: "cerebellar ataxia infantile with progressive external ophthalmoplegia" RELATED [GARD:0001191]
synonym: "PEOB1" RELATED [MONDO:Lexical, OMIM:258450]
synonym: "POLG autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with cerebellar ataxia infantile" RELATED [GARD:0001191]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:258450]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; PEOB1" RELATED [OMIM:258450]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:258450]
synonym: "progressive external ophthalmoplegia, autosomal recessive 1" RELATED [OMIM:258450]
xref: GARD:0001191 {source="MONDO:equivalentTo"}
xref: OMIM:258450 {source="MONDO:equivalentTo", source="GARD:0001191"}
xref: UMLS:C4225153 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="DC-OMIM:258450", source="MONDOLEX:0009783", source="OMIM:258450"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016810 {source="MONDO:Redundant", source="MONDOLEX:0009783", source="ORDO:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850303
property_value: exactMatch http://identifiers.org/omim/258450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225153
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1 xsd:anyURI {source="GARD:0001191"}

[Term]
id: MONDO:0009784
name: ophthalmoplegic neuromuscular disorder with abnormal mitochondria
synonym: "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" EXACT [OMIM:258470]
xref: MESH:C564925 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258470 {source="MONDO:equivalentTo"}
xref: UMLS:C1850302 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258470"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564925
property_value: exactMatch http://identifiers.org/omim/258470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850302

[Term]
id: MONDO:0009785
name: opsismodysplasia
def: "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." [Orphanet:2746]
subset: gard_rare {source="GARD:0004098"}
subset: ordo_disease {source="Orphanet:2746"}
synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480]
synonym: "OPSISMODYSPLASIA; OPSMD" RELATED [OMIM:258480]
synonym: "OPSMD" RELATED [MONDO:Lexical, OMIM:258480]
xref: GARD:0004098 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:2746/attributed", source="ORDO:2746/ntbt", source="Orphanet:2746"}
xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e", source="MONDO:ontobio"}
xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e"}
xref: Orphanet:2746 {source="MONDO:equivalentTo", source="OMIM:258480"}
xref: SCTID:254068007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e", source="OMIM:258480"}
is_a: MONDO:0019694 {source="Orphanet:2746"} ! spondylodysplastic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537122
property_value: exactMatch http://identifiers.org/omim/258480
property_value: exactMatch http://identifiers.org/snomedct/254068007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432219
property_value: exactMatch Orphanet:2746
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia xsd:anyURI {source="GARD:0004098"}

[Term]
id: MONDO:0009786
name: optic atrophy 6
synonym: "OPA6" EXACT [MONDO:Lexical, OMIM:258500]
synonym: "optic atrophy 6" RELATED [MONDO:Lexical, OMIM:258500]
synonym: "optic atrophy 6; OPA6" RELATED [OMIM:258500]
synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [OMIM:258500]
xref: GARD:0010200 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537127 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258500 {source="MONDO:equivalentTo"}
xref: Orphanet:99012 {source="MONDO:obsoleteEquivalent", source="OMIM:258500"}
is_a: MONDO:0014753 {source="ORDO:98676/btnt"} ! autosomal recessive optic atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850281
property_value: exactMatch http://identifiers.org/mesh/C537127
property_value: exactMatch http://identifiers.org/omim/258500
property_value: exactMatch Orphanet:99012

[Term]
id: MONDO:0009787
name: 3-methylglutaconic aciduria type 3
def: "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." [Orphanet:67047]
subset: ordo_disease {source="Orphanet:67047"}
synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663]
synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type III" EXACT [DOID:0110004]
synonym: "3-methylglutaconic aciduria, type 3" RELATED [OMIM:258501]
synonym: "3-methylglutaconic aciduria, type III" RELATED [MONDO:Lexical, OMIM:258501]
synonym: "3-methylglutaconic aciduria, type III; MGCA3" RELATED [OMIM:258501]
synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [DOID:0110004, Orphanet:67047]
synonym: "autosomal recessive optic atrophy type 3" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Costeff optic atrophy syndrome" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Costeff syndrome" EXACT [DOID:0110004, OMIM:258501, Orphanet:67047]
synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Iraqi Jewish optic atrophy plus" RELATED [GARD:0005663]
synonym: "Iraqi-Jewish 'optic atrophy plus'" RELATED [OMIM:258501]
synonym: "Iraqi-Jewish optic atrophy plus" EXACT [DOID:0110004]
synonym: "MGA type III" RELATED [GARD:0005663]
synonym: "MGA, type 3" RELATED [OMIM:258501]
synonym: "MGA3" EXACT [DOID:0110004, Orphanet:67047]
synonym: "MGCA3" RELATED [MONDO:Lexical, OMIM:258501]
synonym: "OPA3 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OPA3 defect" BROAD [GARD:0005663]
synonym: "OPA3, autosomal recessive" RELATED [OMIM:258501]
synonym: "optic atrophy 3, autosomal recessive" RELATED [OMIM:258501]
synonym: "optic atrophy infantile with chorea and spastic paraplegia" RELATED [GARD:0005663]
synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501]
synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501]
xref: DOID:0110004 {source="MONDO:equivalentTo"}
xref: GARD:0005663 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:67047/attributed", source="ORDO:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"}
xref: MESH:C535311 {source="MONDO:equivalentTo", source="ORDO:67047/e", source="MONDO:ontobio", source="Orphanet:67047"}
xref: OMIM:258501 {source="MONDO:equivalentTo", source="ORDO:67047/e", source="DOID:0110004", source="Orphanet:67047"}
xref: Orphanet:67047 {source="MONDO:equivalentTo", source="OMIM:258501", source="DOID:0110004"}
xref: SCTID:297232009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0574084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258501", source="ORDO:67047/e", source="Orphanet:67047"}
is_a: MONDO:0017359 {source="DC-OMIM:258501", source="DOID:0110004", source="MONDO:Redundant", source="OMIM:258501", source="Orphanet:67047", source="linkedlifedata"} ! 3-methylglutaconic aciduria
is_a: MONDO:0018609 {source="Orphanet:67047"} ! syndromic hereditary optic neuropathy
property_value: exactMatch DOID:0110004
property_value: exactMatch http://identifiers.org/mesh/C535311
property_value: exactMatch http://identifiers.org/omim/258501
property_value: exactMatch http://identifiers.org/snomedct/297232009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574084
property_value: exactMatch Orphanet:67047

[Term]
id: MONDO:0009788
name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" EXACT [OMIM:258650]
xref: OMIM:258650 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_shares_features_of MONDO:0010699 ! Charcot-Marie-Tooth disease X-linked recessive 5
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850270
property_value: exactMatch http://identifiers.org/omim/258650

[Term]
id: MONDO:0009789
name: nonarteritic anterior ischemic optic neuropathy, susceptibility to
subset: predisposition
synonym: "Naion, susceptibility to" RELATED [OMIM:258660]
synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" EXACT [OMIM:258660]
synonym: "optic neuropathy, anterior ischemic, susceptibility to" RELATED [OMIM:258660]
synonym: "susceptibility to nonarteritic anterior ischemic optic neuropathy" RELATED [OMIM:258660]
xref: OMIM:258660 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:258660"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000499 ! non-arteritic anterior ischemic optic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847711
property_value: exactMatch http://identifiers.org/omim/258660

[Term]
id: MONDO:0009790
name: Opticocochleodentate degeneration
synonym: "Opticocochleodentate degeneration" EXACT [OMIM:258700]
xref: ICD9:333.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258700 {source="MONDO:equivalentTo"}
xref: SCTID:77553008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0520711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258700"}
is_a: MONDO:0003847 {source="MESH:C563002/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563002
property_value: exactMatch http://identifiers.org/omim/258700
property_value: exactMatch http://identifiers.org/snomedct/77553008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520711

[Term]
id: MONDO:0009791
name: oral sensibility, disturbance of
subset: gard_rare
subset: other_hierarchy
synonym: "disturbance of oral sensitivity" RELATED [GARD:0009476]
synonym: "impairment of oral perception" RELATED [GARD:0009476]
synonym: "oral sensibility, disturbance of" EXACT [OMIM:258800]
xref: GARD:0009476 {source="MONDO:equivalentTo"}
xref: OMIM:258800 {source="MONDO:equivalentTo", source="GARD:0009476"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850269
property_value: exactMatch http://identifiers.org/omim/258800
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception xsd:anyURI {source="GARD:0009476"}

[Term]
id: MONDO:0009792
name: ichthyosis-oral and digital anomalies syndrome
def: "Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2272]
subset: ordo_malformation_syndrome {source="Orphanet:2272"}
synonym: "Clayton Smith-Donnai syndrome" EXACT [Orphanet:2272]
synonym: "ichthyosis tapered fingers midline groove up" RELATED [GARD:0002960]
synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840]
synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960]
xref: GARD:0002960 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536272 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258840 {source="MONDO:equivalentTo", source="Orphanet:2272", source="ORDO:2272/e"}
xref: Orphanet:2272 {source="MONDO:equivalentTo", source="OMIM:258840"}
xref: UMLS:C1850268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258840", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2272", source="ORDO:2272/e"}
is_a: MONDO:0015331 {source="Orphanet:2272"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0017274 {source="Orphanet:2272"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2272"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536272
property_value: exactMatch http://identifiers.org/omim/258840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850268
property_value: exactMatch Orphanet:2272

[Term]
id: MONDO:0009793
name: orofaciodigital syndrome III
def: "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." [Orphanet:2752]
subset: gard_rare {source="GARD:0010518"}
subset: ordo_malformation_syndrome {source="Orphanet:2752"}
synonym: "OFD syndrome 3" RELATED [GARD:0010518]
synonym: "OFD3" EXACT [MONDO:Lexical, OMIM:258850, Orphanet:2752]
synonym: "Ofds 3" RELATED [OMIM:258850]
synonym: "oral facial digital syndrome 3" RELATED [GARD:0010518]
synonym: "oral facial digital syndrome type 3" RELATED [GARD:0010518]
synonym: "oral-facial-digital syndrome type 3" EXACT [Orphanet:2752]
synonym: "oral-Facial-digital syndrome, type 3" RELATED [OMIM:258850]
synonym: "orofaciodigital syndrome 3" RELATED [GARD:0010518]
synonym: "orofaciodigital syndrome III" EXACT [MONDO:Lexical, OMIM:258850]
synonym: "orofaciodigital syndrome III; OFD3" RELATED [OMIM:258850]
synonym: "orofaciodigital syndrome type 3" RELATED [Orphanet:2752]
synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3]
synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752]
xref: DOID:0060373 {source="MONDO:equivalentTo"}
xref: GARD:0010518 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2752", source="ORDO:2752/attributed", source="ORDO:2752/ntbt"}
xref: MESH:C557817 {source="DOID:0060373", source="MONDO:equivalentTo"}
xref: OMIM:258850 {source="DOID:0060373", source="ORDO:2752/e", source="Orphanet:2752", source="MONDO:equivalentTo"}
xref: Orphanet:2752 {source="DOID:0060373", source="OMIM:258850", source="MONDO:equivalentTo"}
xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2752"} ! syndromic intellectual disability
is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0019589 {source="Orphanet:2752"} ! syndromic genetic deafness
property_value: exactMatch DOID:0060373
property_value: exactMatch http://identifiers.org/mesh/C557817
property_value: exactMatch http://identifiers.org/omim/258850
property_value: exactMatch http://identifiers.org/snomedct/239030004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406726
property_value: exactMatch Orphanet:2752
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 xsd:anyURI {source="GARD:0010518"}

[Term]
id: MONDO:0009794
name: orofaciodigital syndrome IV
def: "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." [Orphanet:2753]
subset: gard_rare {source="GARD:0000816"}
subset: ordo_malformation_syndrome {source="Orphanet:2753"}
synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, Orphanet:2753]
synonym: "Mohr-Majewski syndrome" EXACT [OMIM:258860, Orphanet:2753]
synonym: "OFD syndrome 4" RELATED [GARD:0000816]
synonym: "Ofd syndrome with tibial defects" RELATED [OMIM:258860]
synonym: "Ofd syndrome, Baraitser-Burn type" RELATED [OMIM:258860]
synonym: "OFD4" EXACT [DOID:0060374, MONDO:Lexical, OMIM:258860, Orphanet:2753]
synonym: "Ofds 4" RELATED [OMIM:258860]
synonym: "oral facial digital syndrome 4" RELATED [GARD:0000816]
synonym: "oral facial digital syndrome type 4" RELATED [GARD:0000816]
synonym: "oral-facial-digital syndrome type 4" EXACT [Orphanet:2753]
synonym: "oral-Facial-digital syndrome, type 4" RELATED [OMIM:258860]
synonym: "orofaciodigital syndrome 4" RELATED [GARD:0000816]
synonym: "orofaciodigital syndrome IV" EXACT [MONDO:Lexical, OMIM:258860]
synonym: "orofaciodigital syndrome IV; OFD4" RELATED [OMIM:258860]
synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, OMIM:258860]
synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3]
synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816]
xref: DOID:0060374 {source="MONDO:equivalentTo"}
xref: GARD:0000816 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2753", source="ORDO:2753/attributed", source="ORDO:2753/ntbt"}
xref: MESH:C537133 {source="DOID:0060374", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="ORDO:2753/e", source="MONDO:equivalentTo"}
xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"}
xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"}
xref: UMLS:C0406727 {source="DOID:0060374", source="Orphanet:2753", source="NCBI:mim2gene_medline", source="OMIM:258860", source="ORDO:2753/e", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2753"} ! syndromic intellectual disability
is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation
is_a: MONDO:0019589 {source="Orphanet:2753"} ! syndromic genetic deafness
is_a: MONDO:0019691 {source="Orphanet:2753"} ! short rib dysplasia
property_value: exactMatch DOID:0060374
property_value: exactMatch http://identifiers.org/mesh/C537133
property_value: exactMatch http://identifiers.org/omim/258860
property_value: exactMatch http://identifiers.org/snomedct/239031000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406727
property_value: exactMatch Orphanet:2753
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 xsd:anyURI {source="GARD:0000816"}

[Term]
id: MONDO:0009795
name: orofaciodigital syndrome IX
def: "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)." [Orphanet:141007]
subset: gard_rare {source="GARD:0010520"}
subset: ordo_malformation_syndrome {source="Orphanet:141007"}
synonym: "OFD syndrome 9" RELATED [GARD:0010520]
synonym: "OFD9" EXACT [DOID:0060382, MONDO:Lexical, OMIM:258865, Orphanet:141007]
synonym: "Ofds 9" RELATED [OMIM:258865]
synonym: "oral facial digital syndrome 9" RELATED [GARD:0010520]
synonym: "oral facial digital syndrome type 9" RELATED [GARD:0010520]
synonym: "oral-facial-digital syndrome type 9" EXACT [Orphanet:141007]
synonym: "oral-Facial-digital syndrome with retinal abnormalities" RELATED [OMIM:258865]
synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [Orphanet:141007]
synonym: "oral-Facial-digital syndrome, type 9" RELATED [OMIM:258865]
synonym: "orofaciodigital syndrome 9" RELATED [GARD:0010520]
synonym: "orofaciodigital syndrome IX" EXACT [MONDO:Lexical, OMIM:258865]
synonym: "orofaciodigital syndrome IX; OFD9" RELATED [OMIM:258865]
synonym: "orofaciodigital syndrome type 9" RELATED [Orphanet:141007]
synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3]
synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007]
xref: DOID:0060382 {source="MONDO:equivalentTo"}
xref: GARD:0010520 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:141007/attributed", source="ORDO:141007/ntbt", source="Orphanet:141007"}
xref: MESH:C557818 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060382"}
xref: OMIM:258865 {source="MONDO:equivalentTo", source="Orphanet:141007", source="ORDO:141007/e", source="DOID:0060382"}
xref: Orphanet:141007 {source="MONDO:equivalentTo", source="OMIM:258865", source="DOID:0060382"}
xref: SCTID:718680001 {source="MONDO:kboom-pr-1.00/0.79/8.00", source="MONDO:equivalentTo"}
xref: UMLS:C0796102 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258865", source="Orphanet:141007", source="ORDO:141007/e", source="DOID:0060382"}
is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="Orphanet:141007", source="linkedlifedata"} ! orofaciodigital syndrome
property_value: exactMatch DOID:0060382
property_value: exactMatch http://identifiers.org/mesh/C557818
property_value: exactMatch http://identifiers.org/omim/258865
property_value: exactMatch http://identifiers.org/snomedct/718680001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796102
property_value: exactMatch Orphanet:141007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 xsd:anyURI {source="GARD:0010520"}

[Term]
id: MONDO:0009796
name: ornithine aminotransferase deficiency
def: "Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract." [Orphanet:414]
subset: gard_rare
subset: ordo_disease {source="Orphanet:414"}
synonym: "Fuchs atrophia gyrata chorioideae et retinae" RELATED [GARD:0006556]
synonym: "Fuchs gyrate atrophy" RELATED [MESH:C538071]
synonym: "Fuchs gyrate atrophy of the choroid and retina" RELATED [MESH:C538071]
synonym: "GACR" RELATED [MONDO:Lexical, OMIM:258870]
synonym: "Girate atrophy of the retina" RELATED [GARD:0006556]
synonym: "gyrate atrophy" EXACT [GARD:0006556, https://github.com/monarch-initiative/mondo/issues/724, OMIM:258870]
synonym: "gyrate atrophy of choroid and retina" RELATED [MONDO:Lexical, OMIM:258870]
synonym: "gyrate atrophy of choroid and retina; GACR" RELATED [OMIM:258870]
synonym: "gyrate atrophy of the choroid and/or retina" EXACT [DOID:1415]
synonym: "gyrate atrophy of the retina" EXACT [CSP2005:1849-9719, DOID:1415]
synonym: "hoga" EXACT [Orphanet:414]
synonym: "hyperornithinemia" EXACT [Orphanet:414]
synonym: "hyperornithinemia with gyrate atrophy of choroid and retina" RELATED [GARD:0006556, OMIM:258870]
synonym: "hyperornithinemia-gyrate atrophy of choroid and retina syndrome" EXACT [GARD:0006556, Orphanet:414]
synonym: "OAT deficiency" RELATED [GARD:0006556]
synonym: "Oat deficiency" RELATED [OMIM:258870]
synonym: "OKT deficiency" RELATED [GARD:0006556]
synonym: "Okt deficiency" RELATED [OMIM:258870]
synonym: "ornithine aminotransferase deficiency" EXACT [GARD:0006556, OMIM:258870, Orphanet:414]
synonym: "ornithine Keto acid aminotransferase deficiency" RELATED [OMIM:258870]
synonym: "ornithine ketoacid aminotransferase deficiency" RELATED [GARD:0006556]
synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [OMIM:258870]
synonym: "Ornithinemia" RELATED [GARD:0007272]
synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415]
xref: DOID:1415 {source="MONDO:equivalentTo"}
xref: GARD:0006556 {source="MONDO:equivalentTo"}
xref: GARD:0007272 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E72.4 {source="Orphanet:414", source="ORDO:414/attributed", source="ORDO:414/ntbt"}
xref: MESH:C538071 {source="MONDO:equivalentTo"}
xref: MESH:D015799 {source="MONDO:equivalentTo", source="DOID:1415", source="MONDO:ontobio"}
xref: NCIT:C84744 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1415"}
xref: OMIM:258870 {source="GARD:0006556", source="ORDO:414/e", source="Orphanet:414", source="MONDO:equivalentTo", source="DOID:1415"}
xref: Orphanet:414 {source="GARD:0006556", source="OMIM:258870", source="MONDO:equivalentTo"}
xref: UMLS:C0018425 {source="NCIT:C84744", source="Orphanet:414", source="MONDO:equivalentTo", source="DOID:1415"}
is_a: MONDO:0001898 {source="DOID:1415", source="MESH:D015799"} ! optic choroid disease
is_a: MONDO:0016133 {source="Orphanet:414"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017356 {source="Orphanet:414"} ! inborn disorder of ornithine metabolism
is_a: MONDO:0020241 {source="Orphanet:414"} ! unclassified familial retinal dystrophy
is_a: MONDO:0020280 {source="Orphanet:414"} ! metabolic disease with cataract
is_a: MONDO:0020281 {source="Orphanet:414"} ! metabolic disease with pigmentary retinitis
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/314466003
property_value: closeMatch http://identifiers.org/snomedct/314467007
property_value: closeMatch http://identifiers.org/snomedct/367536002
property_value: closeMatch http://identifiers.org/snomedct/87126009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1417917
property_value: exactMatch DOID:1415
property_value: exactMatch http://identifiers.org/mesh/C537132
property_value: exactMatch http://identifiers.org/mesh/C538071
property_value: exactMatch http://identifiers.org/mesh/D015799
property_value: exactMatch http://identifiers.org/omim/258870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0599035
property_value: exactMatch NCIT:C84744
property_value: exactMatch Orphanet:414
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina xsd:anyURI {source="GARD:0006556"}

[Term]
id: MONDO:0009797
name: orotic aciduria
def: "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." []
subset: ordo_disease {source="Orphanet:30"}
synonym: "hereditary orotic aciduria" RELATED [Orphanet:30]
synonym: "OPRT and ODC deficiency" RELATED [OMIM:258900]
synonym: "orotate phosphoribosyltransferase and OMP decarboxylase deficiency" RELATED [GARD:0005429]
synonym: "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900]
synonym: "orotic aciduria" EXACT [OMIM:258900]
synonym: "orotic aciduria 1" RELATED [OMIM:258900]
synonym: "orotic aciduria II (formerly)" RELATED [GARD:0005429]
synonym: "orotic aciduria type 1" RELATED [GARD:0005429]
synonym: "orotic aciduria without megaloblastic Anemia" RELATED [OMIM:258900]
synonym: "oroticaciduria" EXACT [Orphanet:30]
synonym: "oroticaciduria 1" RELATED [GARD:0005429]
synonym: "orotidylic decarboxylase deficiency" EXACT [Orphanet:30]
synonym: "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900]
synonym: "Ump synthase deficiency" RELATED [OMIM:258900]
synonym: "UMP synthtase deficiency" RELATED [GARD:0005429]
synonym: "UMPS" RELATED [GARD:0005429]
synonym: "Umps deficiency" RELATED [OMIM:258900]
synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900]
synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30]
xref: DOID:0050833 {source="MONDO:equivalentTo"}
xref: GARD:0005429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E79.8 {source="ORDO:30/index", source="ORDO:30/ntbt", source="Orphanet:30"}
xref: MedDRA:10052621 {source="Orphanet:30", source="ORDO:30/e"}
xref: NCIT:C98944 {source="MONDO:equivalentTo"}
xref: OMIM:258900 {source="MONDO:equivalentTo", source="DOID:0050833", source="Orphanet:30", source="ORDO:30/e"}
xref: Orphanet:30 {source="MONDO:equivalentTo", source="OMIM:258900"}
xref: SCTID:47641009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.74/1.55"}
is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0020112 {source="Orphanet:30"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268128
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278622
property_value: exactMatch DOID:0050833
property_value: exactMatch http://identifiers.org/meddra/10052621
property_value: exactMatch http://identifiers.org/mesh/C537136
property_value: exactMatch http://identifiers.org/omim/258900
property_value: exactMatch http://identifiers.org/snomedct/47641009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220987
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268130
property_value: exactMatch NCIT:C98944
property_value: exactMatch Orphanet:30

[Term]
id: MONDO:0009798
name: intellectual disability-cataracts-calcified pinnae-myopathy syndrome
def: "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." [Orphanet:3042]
subset: ordo_malformation_syndrome {source="Orphanet:3042"}
synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [OMIM:259050]
synonym: "primrose syndrome" EXACT [OMIM:259050, Orphanet:3042]
synonym: "primrose syndrome; PRIMS" RELATED [OMIM:259050]
synonym: "PRIMS" RELATED [OMIM:259050]
xref: GARD:0004488 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3042", source="ORDO:3042/attributed", source="ORDO:3042/ntbt"}
xref: MESH:C536420 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259050 {source="MONDO:equivalentTo", source="Orphanet:3042", source="ORDO:3042/e"}
xref: Orphanet:3042 {source="MONDO:equivalentTo", source="OMIM:259050"}
xref: SCTID:726709001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796121 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3042", source="OMIM:259050"}
is_a: MONDO:0000508 {source="Orphanet:3042"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536420
property_value: exactMatch http://identifiers.org/omim/259050
property_value: exactMatch http://identifiers.org/snomedct/726709001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796121
property_value: exactMatch Orphanet:3042

[Term]
id: MONDO:0009799
name: pachydermoperiostosis
subset: ordo_malformation_syndrome {source="Orphanet:2796"}
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:259100]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:259100]
synonym: "PDP" EXACT [Orphanet:2796]
synonym: "PHOAR1" RELATED [MONDO:Lexical, OMIM:259100]
synonym: "Touraine Solente Gole syndrome" RELATED [GARD:0007299]
synonym: "Touraine-Solente-Gole syndrome" EXACT [Orphanet:2796]
xref: GARD:0007299 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M89.4 {source="Orphanet:2796", source="ORDO:2796/ntbt", source="ORDO:2796/inclusion"}
xref: MedDRA:10051686 {source="ORDO:2796/e", source="Orphanet:2796"}
xref: Orphanet:2796 {source="OMIM:259100", source="MONDO:equivalentTo"}
xref: SCTID:88220006 {source="MONDO:equivalentTo"}
xref: UMLS:CN202658 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016620 {source="DC-OMIM:259100", source="MONDOLEX:0009799", source="OMIM:259100", source="Orphanet:2796"} ! primary hypertrophic osteoarthropathy
is_a: MONDO:0018798 {source="Orphanet:2796"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:2796"} ! dermis disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678439
property_value: exactMatch http://identifiers.org/meddra/10051686
property_value: exactMatch http://identifiers.org/snomedct/88220006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202658
property_value: exactMatch Orphanet:2796

[Term]
id: MONDO:0009800
name: Blount disease, adolescent
synonym: "Blount disease, adolescent" EXACT [OMIM:259200]
synonym: "Osteochondrosis deformans tibiae, adolescent" RELATED [OMIM:259200]
synonym: "tibia vara, adolescent" RELATED [OMIM:259200]
xref: OMIM:259200 {source="MONDO:equivalentTo"}
xref: UMLS:C3151572 {source="OMIM:259200", source="MONDO:equivalentTo"}
is_a: MONDO:0017194 {source="ORDO:2768/btnt"} ! Blount disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220757
property_value: exactMatch http://identifiers.org/omim/259200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151572

[Term]
id: MONDO:0009801
name: familial osteodysplasia, Anderson type
def: "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:2769]
subset: gard_rare {source="GARD:0004136"}
subset: ordo_malformation_syndrome {source="Orphanet:2769"}
synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136]
synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250]
xref: GARD:0004136 {source="MONDO:equivalentTo"}
xref: MESH:C564923 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259250 {source="MONDO:equivalentTo", source="ORDO:2769/e", source="Orphanet:2769"}
xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"}
xref: UMLS:C1850186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2769", source="OMIM:259250"}
is_a: MONDO:0019710 {source="Orphanet:2769"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch http://identifiers.org/mesh/C564923
property_value: exactMatch http://identifiers.org/omim/259250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850186
property_value: exactMatch Orphanet:2769
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type xsd:anyURI {source="GARD:0004136"}

[Term]
id: MONDO:0009802
name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
subset: gard_rare {source="GARD:0008662"}
synonym: "Danks Mayne Kozlowski precocious osteodysplasty" RELATED [GARD:0008662]
synonym: "osteodysplasty precocious of Danks Mayne and Kozlowski" RELATED [GARD:0008662]
synonym: "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski" EXACT [OMIM:259270]
xref: GARD:0008662 {source="MONDO:equivalentTo"}
xref: MESH:C564922 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259270 {source="MONDO:equivalentTo"}
xref: UMLS:C1850185 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:259270"}
is_a: MONDO:0003847 {source="MESH:C564922/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564922
property_value: exactMatch http://identifiers.org/omim/259270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850185
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski xsd:anyURI {source="GARD:0008662"}

[Term]
id: MONDO:0009803
name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
def: "or a few hours after birth. The mode of inheritance appears to be autosomal recessive." [Orphanet:2772]
subset: ordo_malformation_syndrome {source="Orphanet:2772"}
synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410]
xref: ICD10:Q78.0 {source="Orphanet:2772", source="ORDO:2772/attributed", source="ORDO:2772/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C537558 {source="ORDO:2772/e", source="Orphanet:2772", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259410 {source="ORDO:2772/e", source="Orphanet:2772", source="MONDO:equivalentTo"}
xref: Orphanet:2772 {source="OMIM:259410", source="MONDO:equivalentTo"}
xref: UMLS:C1850184 {source="ORDO:2772/e", source="Orphanet:2772", source="NCBI:mim2gene_medline", source="OMIM:259410", source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:2772"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C537558
property_value: exactMatch http://identifiers.org/omim/259410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850184
property_value: exactMatch Orphanet:2772

[Term]
id: MONDO:0009804
name: osteogenesis imperfecta type 3
def: "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." [Orphanet:216812]
subset: ordo_clinical_subtype {source="Orphanet:216812"}
synonym: "OI type 3" EXACT [Orphanet:216812]
synonym: "OI type III" RELATED [GARD:0008695]
synonym: "OI, type 3" RELATED [OMIM:259420]
synonym: "OI3" EXACT [DOID:0110339]
synonym: "Oi3" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta type III" EXACT [DOID:0110339]
synonym: "osteogenesis imperfecta, progressively deforming with normal sclerae" RELATED [GARD:0008695]
synonym: "osteogenesis imperfecta, progressively deforming, with normal sclerae" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta, type 3" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta, type III" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta, type III; OI3" RELATED [OMIM:259420]
synonym: "progressive deforming osteogenesis imperfecta" EXACT [Orphanet:216812]
synonym: "progressively deforming OI" RELATED [GARD:0008695]
synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [DOID:0110339]
synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812]
xref: DOID:0110339 {source="MONDO:equivalentTo"}
xref: GARD:0008695 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110339", source="Orphanet:216812", source="ORDO:216812/attributed", source="ORDO:216812/ntbt"}
xref: MESH:C536044 {source="ORDO:216812/e", source="Orphanet:216812", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:259420 {source="ORDO:216812/e", source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo"}
xref: Orphanet:216812 {source="OMIM:259420", source="MONDO:equivalentTo"}
xref: SCTID:385483009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268362 {source="OMIM:259420", source="ORDO:216812/e", source="NCBI:mim2gene_medline", source="Orphanet:216812", source="MONDO:equivalentTo", source="NCIT:C99002"}
is_a: MONDO:0015669 {source="Orphanet:216812"} ! rare disease with dentinogenesis imperfecta
is_a: MONDO:0019019 {source="DC-OMIM:259420", source="DOID:0110339", source="MESH:C536044", source="NCIT:C99002", source="OMIM:259420", source="Orphanet:216812", source="linkedlifedata"} ! osteogenesis imperfecta
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0110339
property_value: exactMatch http://identifiers.org/mesh/C536044
property_value: exactMatch http://identifiers.org/omim/259420
property_value: exactMatch http://identifiers.org/snomedct/385483009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268362
property_value: exactMatch NCIT:C99002
property_value: exactMatch Orphanet:216812

[Term]
id: MONDO:0009805
name: osteogenesis imperfecta type 9
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI 9" RELATED [GARD:0010619]
synonym: "OI type IX" RELATED [GARD:0010619]
synonym: "OI, type 9" RELATED [OMIM:259440]
synonym: "OI9" EXACT [DOID:0110349, MONDO:Lexical, OMIM:259440]
synonym: "osteogenesis imperfecta caused by mutation in PPIB" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen" RELATED [GARD:0010619]
synonym: "osteogenesis imperfecta type IX" EXACT [DOID:0110349]
synonym: "osteogenesis imperfecta, type 9" RELATED [OMIM:259440]
synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical, OMIM:259440]
synonym: "osteogenesis imperfecta, type IX; OI9" RELATED [OMIM:259440]
synonym: "PPIB osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110349 {source="MONDO:equivalentTo"}
xref: GARD:0010619 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110349"}
xref: MESH:C564921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259440 {source="DOID:0110349", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:259440", source="DOID:0110349", source="MESH:C564921", source="MONDO:Redundant", source="OMIM:259440"} ! osteogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850169
property_value: exactMatch DOID:0110349
property_value: exactMatch http://identifiers.org/mesh/C564921
property_value: exactMatch http://identifiers.org/omim/259440

[Term]
id: MONDO:0009806
name: Bruck syndrome 1
def: "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arthrogryposis-like disorder" EXACT [OMIM:259450]
synonym: "BRKS1" RELATED [MONDO:Lexical, OMIM:259450]
synonym: "Bruck syndrome 1" EXACT [MONDO:Lexical, OMIM:259450]
synonym: "Bruck syndrome 1; BRKS1" RELATED [OMIM:259450]
synonym: "Bruck syndrome caused by mutation in FKBP10" EXACT [MONDO:design_pattern]
synonym: "Bruck syndrome type 1" EXACT [MONDORULE:1, OMIM:259450]
synonym: "FKBP10 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Kuskokwim disease" RELATED [OMIM:259450]
xref: GARD:0001029 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:259450 {source="MONDO:equivalentTo"}
xref: UMLS:C1850168 {source="OMIM:259450", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017195 {source="DC-OMIM:259450", source="MONDO:Redundant", source="MONDOLEX:0009806"} ! Bruck syndrome
property_value: exactMatch http://identifiers.org/omim/259450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850168

[Term]
id: MONDO:0009807
name: osteosarcoma (disease)
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C9145]
synonym: "bone tissue neoplasm" BROAD [DOID:3347]
synonym: "osteogenic sarcoma" EXACT [DOID:3347, NCIT:C9145, OMIM:259500, Orphanet:668]
synonym: "osteoid sarcoma" EXACT [CSP2005:2019-1578, DOID:3347, MONDO:patterns/location]
synonym: "osteosarcoma" EXACT [MONDO:ambiguous, NCIT:C9145]
synonym: "osteosarcoma, malignant" EXACT [NCIT:C9145]
synonym: "sarcoma of osteoid" EXACT [MONDO:patterns/sarcoma]
synonym: "skeletal sarcoma" EXACT EXCLUDE [DOID:3347]
xref: DOID:3347 {source="MONDO:equivalentTo", source="EFO:0000637"}
xref: EFO:0000637 {source="MONDO:equivalentTo"}
xref: HP:0002669 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9180/3 {source="NCIT:C9145"}
xref: NCIT:C9145 {source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"}
xref: ONCOTREE:OS {source="MONDO:equivalentTo"}
is_a: MONDO:0005089 {source="DOID:3347", source="EFO:0000637", source="MONDO:Entailed", source="NCIT:C9145"} ! sarcoma
property_value: closeMatch http://identifiers.org/mesh/D018213
property_value: closeMatch http://identifiers.org/snomedct/189878003
property_value: closeMatch http://identifiers.org/snomedct/21708004
property_value: closeMatch http://identifiers.org/snomedct/408387006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206639
property_value: exactMatch DOID:3347
property_value: exactMatch NCIT:C9145

[Term]
id: MONDO:0009808
name: osteoid osteoma (disease)
def: "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." [NCIT:P378]
synonym: "osteoid osteoma" EXACT [MONDO:ambiguous, NCIT:C3297, OMIM:259550]
xref: HP:0030433 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICDO:9191/0 {source="NCIT:C3297"}
xref: MESH:D010017 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3297 {source="MONDO:equivalentTo"}
xref: OMIM:259550 {source="MONDO:equivalentTo"}
xref: SCTID:302859004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.45"}
xref: UMLS:C0029441 {source="OMIM:259550", source="NCIT:C3297", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="NCIT:C3297", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone benign neoplasm
is_a: MONDO:0045052 {source="NCIT:C3297"} ! benign osteogenic neoplasm
property_value: exactMatch http://identifiers.org/mesh/D010017
property_value: exactMatch http://identifiers.org/omim/259550
property_value: exactMatch http://identifiers.org/snomedct/302859004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029441
property_value: exactMatch NCIT:C3297

[Term]
id: MONDO:0009809
name: multicentric osteolysis, nodulosis, and arthropathy
def: "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." [NCIT:C123437]
synonym: "Al-Aqeel Sewairi syndrome" RELATED [OMIM:259600]
synonym: "mona" RELATED [MONDO:Lexical, OMIM:259600]
synonym: "multicentric osteolysis, nodulosis, and arthropathy" EXACT [MONDO:Lexical, OMIM:259600]
synonym: "multicentric osteolysis, nodulosis, and arthropathy; mona" RELATED [OMIM:259600]
synonym: "NAO syndrome" RELATED [OMIM:259600]
synonym: "nodulosis-arthropathy-osteolysis syndrome" RELATED [OMIM:259600]
synonym: "osteolysis, hereditary multicentric" RELATED [OMIM:259600]
synonym: "Torg syndrome" RELATED [OMIM:259600]
synonym: "Torg-Winchester syndrome" RELATED [OMIM:259600]
synonym: "Torg-Winchester syndrome, formerly" RELATED [OMIM:259600]
xref: NCIT:C123437 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:259600 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0009809", source="NCIT:C123437"} ! syndromic disease
is_a: MONDO:0018104 {source="ORDO:3460/btnt"} ! Torg-Winchester syndrome
is_a: MONDO:0019410 {source="ORDO:85196/btnt"} ! nodulosis-arthropathy-osteolysis syndrome
property_value: exactMatch http://identifiers.org/omim/259600
property_value: exactMatch NCIT:C123437

[Term]
id: MONDO:0009810
name: autosomal recessive distal osteolysis syndrome
def: "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." [Orphanet:2776]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2776"}
synonym: "distal osteolysis-short stature-intellectual disability syndrome" EXACT [Orphanet:2776]
synonym: "osteolysis syndrome recessive" RELATED [GARD:0004144]
synonym: "osteolysis syndrome, recessive" RELATED [OMIM:259610]
synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED [OMIM:259610]
synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED [GARD:0004144]
synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776]
xref: GARD:0004144 {source="MONDO:equivalentTo"}
xref: GARD:0004299 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C536052 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259610 {source="ORDO:2776/e", source="MONDO:equivalentTo", source="Orphanet:2776", source="GARD:0004144"}
xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"}
xref: SCTID:715487005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850143 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:259610", source="MEDGEN:kboom-pr92-c96", source="GARD:0004144"}
xref: UMLS:C4275111 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0019707 {source="Orphanet:2776"} ! primary osteolysis
property_value: exactMatch http://identifiers.org/mesh/C536052
property_value: exactMatch http://identifiers.org/omim/259610
property_value: exactMatch http://identifiers.org/snomedct/715487005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275111
property_value: exactMatch Orphanet:2776

[Term]
id: MONDO:0009811
name: osteoma of middle ear
synonym: "osteoma of middle ear" EXACT [OMIM:259650]
xref: MESH:C564917 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259650 {source="MONDO:equivalentTo"}
xref: UMLS:C1850142 {source="OMIM:259650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564917
property_value: exactMatch http://identifiers.org/omim/259650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850142

[Term]
id: MONDO:0009812
name: osteomalacia, sclerosing, with cerebral calcification
synonym: "osteomalacia, sclerosing, with cerebral calcification" EXACT [OMIM:259660]
xref: MESH:C564916 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259660 {source="MONDO:equivalentTo"}
xref: UMLS:C1850141 {source="OMIM:259660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564916
property_value: exactMatch http://identifiers.org/omim/259660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850141

[Term]
id: MONDO:0009813
name: chronic recurrent multifocal osteomyelitis (disease)
def: "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." [Orphanet:324964]
subset: ordo_disease {source="Orphanet:324964"}
synonym: "chronic multifocal osteomyelitis" EXACT [DOID:0060645]
synonym: "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" RELATED [Orphanet:324964]
synonym: "chronic recurrent multifocal osteomyelitis" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:259680]
synonym: "chronic recurrent multifocal osteomyelitis; CRMO" RELATED [OMIM:259680]
synonym: "CMO" RELATED [GARD:0006108]
synonym: "CNO/CRMO" EXACT [Orphanet:324964]
synonym: "CRMO" EXACT [DOID:0060645, MONDO:Lexical, OMIM:259680, Orphanet:324964]
synonym: "multifocal osteomyelitis, chronic" RELATED [GARD:0006108]
synonym: "NBO" EXACT [NCIT:C119042]
synonym: "non-bacterial osteomyelitis" EXACT [NCIT:C119042]
synonym: "osteomyelitis, chronic multifocal" RELATED [OMIM:259680]
xref: DOID:0060645 {source="MONDO:equivalentTo"}
xref: GARD:0006108 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0002754 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M86.3 {source="ORDO:324964/e", source="Orphanet:324964", source="DOID:0060645"}
xref: MESH:C535456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119042 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:259680 {source="ORDO:324964/e", source="Orphanet:324964", source="MONDO:equivalentTo"}
xref: Orphanet:324964 {source="MONDO:equivalentTo", source="DOID:0060645", source="OMIM:259680"}
xref: SCTID:240151005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0410422 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:324964", source="MONDO:equivalentTo", source="NCIT:C119042", source="OMIM:259680"}
is_a: MONDO:0005246 {source="DOID:0060645", source="MESH:C535456", source="NCIT:C119042", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteomyelitis (disease)
is_a: MONDO:0017370 {source="Orphanet:324964"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:324964"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch DOID:0060645
property_value: exactMatch http://identifiers.org/mesh/C535456
property_value: exactMatch http://identifiers.org/omim/259680
property_value: exactMatch http://identifiers.org/snomedct/240151005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410422
property_value: exactMatch NCIT:C119042
property_value: exactMatch Orphanet:324964

[Term]
id: MONDO:0009814
name: osteopenia-intellectual disability-sparse hair syndrome
def: "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." [Orphanet:2324]
subset: ordo_malformation_syndrome {source="Orphanet:2324"}
synonym: "Kaler Garrity Stern syndrome" RELATED [GARD:0000354]
synonym: "Kaler-Garrity-Stern syndrome" EXACT [Orphanet:2324]
synonym: "osteopenia and sparse hair" RELATED [OMIM:259690]
synonym: "osteopenia mental retardation sparse hair" RELATED [GARD:0000354]
xref: GARD:0000354 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537706 {source="Orphanet:2324", source="ORDO:2324/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259690 {source="Orphanet:2324", source="ORDO:2324/e", source="MONDO:equivalentTo"}
xref: Orphanet:2324 {source="MONDO:equivalentTo", source="OMIM:259690"}
xref: SCTID:732954002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850140 {source="Orphanet:2324", source="NCBI:mim2gene_medline", source="ORDO:2324/e", source="MONDO:equivalentTo", source="OMIM:259690"}
is_a: MONDO:0000508 {source="Orphanet:2324"} ! syndromic intellectual disability
is_a: MONDO:0019704 {source="Orphanet:2324"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C537706
property_value: exactMatch http://identifiers.org/omim/259690
property_value: exactMatch http://identifiers.org/snomedct/732954002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850140
property_value: exactMatch Orphanet:2324

[Term]
id: MONDO:0009815
name: autosomal recessive osteopetrosis 1
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0002579"}
synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700]
synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942]
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in TCIRG1" EXACT []
synonym: "autosomal recessive osteopetrosis type 1" EXACT [DOID:0110942, MONDORULE:1]
synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942]
synonym: "marble bones autosomal recessive" RELATED [GARD:0002579]
synonym: "marble bones, autosomal recessive" RELATED [OMIM:259700]
synonym: "OPTB1" EXACT [DOID:0110942, MONDO:Lexical, OMIM:259700]
synonym: "osteopetrosis autosomal recessive 1" RELATED [GARD:0002579]
synonym: "osteopetrosis infantile malignant 1" RELATED [GARD:0002579]
synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:259700]
synonym: "osteopetrosis, autosomal recessive 1; OPTB1" RELATED [OMIM:259700]
synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:259700]
synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700]
synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "TCIRG1 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110942 {source="MONDO:equivalentTo"}
xref: GARD:0002579 {source="MONDO:equivalentTo"}
xref: MESH:C564915 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"}
is_a: MONDO:0019026 {source="MONDO:Redundant", source="MONDOLEX:0009815", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850127
property_value: exactMatch DOID:0110942
property_value: exactMatch http://identifiers.org/mesh/C564915
property_value: exactMatch http://identifiers.org/omim/259700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 xsd:anyURI {source="GARD:0002579"}

[Term]
id: MONDO:0009816
name: autosomal recessive osteopetrosis 2
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0004157"}
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in TNFSF11" EXACT []
synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1]
synonym: "mild autosomal recessive form osteopetrosis" EXACT [DOID:0110943]
synonym: "OPTB2" EXACT [DOID:0110943, MONDO:Lexical, OMIM:259710]
synonym: "osteoclast-poor osteopetrosis" EXACT [DOID:0110943]
synonym: "osteopetrosis autosomal recessive 2" RELATED [GARD:0004157]
synonym: "osteopetrosis osteoclast-poor" RELATED [GARD:0004157]
synonym: "osteopetrosis, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:259710]
synonym: "osteopetrosis, autosomal recessive 2; OPTB2" RELATED [OMIM:259710]
synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:259710]
synonym: "osteopetrosis, mild autosomal recessive form" RELATED [OMIM:259710]
synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710]
synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "TNFSF11 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110943 {source="MONDO:equivalentTo"}
xref: GARD:0004157 {source="MONDO:equivalentTo"}
xref: MESH:C536059 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"}
is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850126
property_value: exactMatch DOID:0110943
property_value: exactMatch http://identifiers.org/mesh/C536059
property_value: exactMatch http://identifiers.org/omim/259710
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 xsd:anyURI {source="GARD:0004157"}

[Term]
id: MONDO:0009817
name: autosomal recessive osteopetrosis 5
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0004153"}
synonym: "autosomal recessive osteopetrosis type 5" EXACT [DOID:0110939, MONDORULE:1]
synonym: "infantile malignant osteopetrosis 3" EXACT [DOID:0110939]
synonym: "OPTB5" EXACT [DOID:0110939, MONDO:Lexical, OMIM:259720]
synonym: "osteopetrosis (disease) caused by mutation in OSTM1" EXACT []
synonym: "osteopetrosis autosomal recessive 5" RELATED [GARD:0004153]
synonym: "osteopetrosis infantile malignant 3" RELATED [GARD:0004153]
synonym: "osteopetrosis, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:259720]
synonym: "osteopetrosis, autosomal recessive 5; OPTB5" RELATED [OMIM:259720]
synonym: "osteopetrosis, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:259720]
synonym: "osteopetrosis, infantile malignant 3" RELATED [OMIM:259720]
synonym: "OSTM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110939 {source="MONDO:equivalentTo"}
xref: GARD:0004153 {source="MONDO:equivalentTo"}
xref: MESH:C566883 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259720 {source="MONDO:equivalentTo", source="DOID:0110939"}
is_a: MONDO:0010866 ! infantile osteopetrosis with neuroaxonal dysplasia
is_a: MONDO:0019026 ! autosomal recessive osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968603
property_value: exactMatch DOID:0110939
property_value: exactMatch http://identifiers.org/mesh/C566883
property_value: exactMatch http://identifiers.org/omim/259720
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5 xsd:anyURI {source="GARD:0004153"}

[Term]
id: MONDO:0009818
name: autosomal recessive osteopetrosis 3
def: "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." [Orphanet:2785]
subset: gard_rare {source="GARD:0004154"}
subset: ordo_disease {source="Orphanet:2785"}
synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [DOID:0110941]
synonym: "autosomal recessive osteopetrosis type 3" EXACT [DOID:0110941, MONDORULE:1]
synonym: "Autosomal Recessive osteopetrosis, type 3" EXACT [NCIT:C118438]
synonym: "CA2 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "carbonic anhydrase 2 deficiency" EXACT [Orphanet:2785]
synonym: "carbonic anhydrase II deficiency" EXACT [DOID:0110941]
synonym: "Guibaud Vainsel syndrome" RELATED [GARD:0004154]
synonym: "Guibaud-Vainsel syndrome" EXACT [DOID:0110941, Orphanet:2785]
synonym: "marble brain disease" EXACT [DOID:0110941, Orphanet:2785]
synonym: "mixed renal tubular acidosis" EXACT [Orphanet:2785]
synonym: "mixed RTA" EXACT [Orphanet:2785]
synonym: "OPTB3" EXACT [DOID:0110941, MONDO:Lexical, OMIM:259730]
synonym: "osteopetrosis (disease) caused by mutation in CA2" EXACT []
synonym: "osteopetrosis autosomal recessive 3" RELATED [GARD:0004154]
synonym: "osteopetrosis with renal tubular acidosis" EXACT [DOID:0110941, OMIM:259730]
synonym: "osteopetrosis, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:259730]
synonym: "osteopetrosis, autosomal recessive 3; OPTB3" RELATED [OMIM:259730]
synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:259730]
synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785]
xref: DOID:0110941 {source="MONDO:equivalentTo"}
xref: GARD:0004154 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.2 {source="Orphanet:2785", source="ORDO:2785/attributed", source="ORDO:2785/ntbt"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536058 {source="ORDO:2785/e", source="Orphanet:2785", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118438 {source="MONDO:equivalentTo"}
xref: OMIM:259730 {source="DOID:0110941", source="ORDO:2785/e", source="Orphanet:2785", source="MONDO:equivalentTo"}
xref: Orphanet:2785 {source="OMIM:259730", source="MONDO:equivalentTo"}
xref: SCTID:254122007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017828 {source="Orphanet:2785"} ! primary renal tubular acidosis
is_a: MONDO:0019026 ! autosomal recessive osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345407
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849435
property_value: exactMatch DOID:0110941
property_value: exactMatch http://identifiers.org/mesh/C536058
property_value: exactMatch http://identifiers.org/omim/259730
property_value: exactMatch http://identifiers.org/snomedct/254122007
property_value: exactMatch NCIT:C118438
property_value: exactMatch Orphanet:2785
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 xsd:anyURI {source="GARD:0004154"}

[Term]
id: MONDO:0009819
name: obsolete idiopathic juvenile osteoporosis
is_obsolete: true
replaced_by: MONDO:0019409

[Term]
id: MONDO:0009820
name: osteoporosis-pseudoglioma syndrome
def: "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." [Orphanet:2788]
subset: gard_rare {source="GARD:0004160"}
subset: ordo_disease {source="Orphanet:2788"}
synonym: "ocular form of osteogenesis imperfecta" EXACT [DOID:0060849, Orphanet:2788]
synonym: "OPPG" EXACT [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788]
synonym: "Ops" RELATED [OMIM:259770]
synonym: "osteogenesis imperfecta ocular form" RELATED [GARD:0004160]
synonym: "osteogenesis imperfecta, ocular form" RELATED [OMIM:259770]
synonym: "osteoporosis pseudoglioma syndrome" RELATED [GARD:0004160]
synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770]
synonym: "osteoporosis-pseudoglioma syndrome; OPPG" RELATED [OMIM:259770]
synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160]
xref: DOID:0060849 {source="MONDO:equivalentTo"}
xref: GARD:0004160 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:2788/attributed", source="ORDO:2788/ntbt", source="Orphanet:2788", source="DOID:0060849"}
xref: MedDRA:10052452 {source="Orphanet:2788", source="ORDO:2788/e"}
xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="MONDO:ontobio", source="DOID:0060849"}
xref: NCIT:C130998 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46"}
xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="DOID:0060849"}
xref: Orphanet:2788 {source="OMIM:259770", source="MONDO:equivalentTo", source="DOID:0060849"}
xref: UMLS:C0432252 {source="OMIM:259770", source="NCIT:C130998", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="DOID:0060849"}
is_a: MONDO:0000508 {source="Orphanet:2788"} ! syndromic intellectual disability
is_a: MONDO:0006025 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019704 {source="Orphanet:2788"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0020247 {source="Orphanet:2788"} ! congenital vitreoretinal dysplasia
property_value: exactMatch DOID:0060849
property_value: exactMatch http://identifiers.org/meddra/10052452
property_value: exactMatch http://identifiers.org/mesh/C536063
property_value: exactMatch http://identifiers.org/omim/259770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432252
property_value: exactMatch NCIT:C130998
property_value: exactMatch Orphanet:2788
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome xsd:anyURI {source="GARD:0004160"}

[Term]
id: MONDO:0009821
name: lethal osteosclerotic bone dysplasia
def: "Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." [Orphanet:1832]
subset: ordo_malformation_syndrome {source="Orphanet:1832"}
synonym: "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" RELATED [GARD:0000282]
synonym: "osteosclerotic bone dysplasia, lethal" RELATED [OMIM:259775]
synonym: "RAINE syndrome" RELATED [MONDO:Lexical, OMIM:259775]
synonym: "Raine syndrome" EXACT [Orphanet:1832]
synonym: "RAINE syndrome; RNS" RELATED [OMIM:259775]
synonym: "RNS" RELATED [MONDO:Lexical, OMIM:259775]
xref: GARD:0000282 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.2 {source="ORDO:1832/attributed", source="ORDO:1832/ntbt", source="Orphanet:1832"}
xref: MESH:C535282 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259775 {source="MONDO:equivalentTo", source="ORDO:1832/e", source="Orphanet:1832"}
xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"}
xref: UMLS:C1850106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1832/e", source="OMIM:259775", source="Orphanet:1832", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019702 {source="Orphanet:1832"} ! neonatal osteosclerotic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535282
property_value: exactMatch http://identifiers.org/omim/259775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850106
property_value: exactMatch Orphanet:1832

[Term]
id: MONDO:0009822
name: otoonychoperoneal syndrome
subset: gard_rare {source="GARD:0004170"}
subset: ordo_malformation_syndrome {source="Orphanet:2793"}
synonym: "oto-onycho-peroneal syndrome" RELATED [GARD:0004170]
synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780]
xref: GARD:0004170 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="Orphanet:2793", source="ORDO:2793/attributed", source="ORDO:2793/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564912 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:259780 {source="Orphanet:2793", source="ORDO:2793/e", source="MONDO:equivalentTo"}
xref: Orphanet:2793 {source="OMIM:259780", source="MONDO:equivalentTo"}
xref: SCTID:441944007 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="MONDO:equivalentTo"}
xref: UMLS:C1850105 {source="Orphanet:2793", source="OMIM:259780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2793"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019285 {source="Orphanet:2793"} ! syndromic nail anomaly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2793"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564912
property_value: exactMatch http://identifiers.org/omim/259780
property_value: exactMatch http://identifiers.org/snomedct/441944007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2711794
property_value: exactMatch Orphanet:2793
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome xsd:anyURI {source="GARD:0004170"}

[Term]
id: MONDO:0009823
name: primary hyperoxaluria type 1
def: "Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." [Orphanet:93598]
subset: gard_rare {source="GARD:0002835"}
subset: ordo_clinical_subtype {source="Orphanet:93598"}
synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900]
synonym: "glycolic aciduria" EXACT [OMIM:259900, Orphanet:93598]
synonym: "hepatic AGT deficiency" RELATED [OMIM:259900]
synonym: "HP1" RELATED [MONDO:Lexical, OMIM:259900]
synonym: "hyperoxaluria, primary, type 1" RELATED [OMIM:259900]
synonym: "hyperoxaluria, primary, type I" RELATED [MONDO:Lexical, OMIM:259900]
synonym: "hyperoxaluria, primary, type I; HP1" RELATED [OMIM:259900]
synonym: "Oxalosis 1" RELATED [OMIM:259900]
synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" RELATED [GARD:0002835]
synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [Orphanet:93598]
synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [OMIM:259900]
synonym: "primary hyperoxaluria caused by mutation in AGXT" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type I" EXACT [NCIT:C123212]
synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835]
synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900]
xref: GARD:0002835 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="Orphanet:93598", source="ORDO:93598/attributed", source="ORDO:93598/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536414 {source="ORDO:93598/e", source="MONDO:equivalentTo", source="Orphanet:93598", source="MONDO:ontobio"}
xref: NCIT:C123212 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: OMIM:259900 {source="ORDO:93598/e", source="MONDO:equivalentTo", source="Orphanet:93598"}
xref: Orphanet:93598 {source="MONDO:equivalentTo", source="OMIM:259900"}
xref: SCTID:65520001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: UMLS:C0268164 {source="ORDO:93598/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93598", source="NCIT:C123212", source="OMIM:259900"}
is_a: MONDO:0002474 {source="DC-OMIM:259900", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598", source="linkedlifedata"} ! primary hyperoxaluria
is_a: MONDO:0017753 {source="Orphanet:93598"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
property_value: exactMatch http://identifiers.org/mesh/C536414
property_value: exactMatch http://identifiers.org/omim/259900
property_value: exactMatch http://identifiers.org/snomedct/65520001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268164
property_value: exactMatch NCIT:C123212
property_value: exactMatch Orphanet:93598
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 xsd:anyURI {source="GARD:0002835"}

[Term]
id: MONDO:0009824
name: primary hyperoxaluria type 2
def: "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." [Orphanet:93599]
subset: gard_rare {source="GARD:0002836"}
subset: ordo_clinical_subtype {source="Orphanet:93599"}
synonym: "D-glycerate dehydrogenase deficiency" EXACT [OMIM:260000, Orphanet:93599]
synonym: "glyceric aciduria" RELATED [OMIM:260000]
synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [OMIM:260000]
synonym: "GRHPR primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HP2" RELATED [MONDO:Lexical, OMIM:260000]
synonym: "hyperoxaluria, primary, type 2" RELATED [OMIM:260000]
synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical, OMIM:260000]
synonym: "hyperoxaluria, primary, type II; HP2" RELATED [OMIM:260000]
synonym: "L-glyceric aciduria" EXACT [Orphanet:93599]
synonym: "Oxalosis 2" RELATED [OMIM:260000]
synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213]
xref: GARD:0002836 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="ORDO:93599/attributed", source="ORDO:93599/ntbt", source="Orphanet:93599"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536415 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123213 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: OMIM:260000 {source="ORDO:93599/e", source="MONDO:equivalentTo", source="Orphanet:93599"}
xref: Orphanet:93599 {source="MONDO:equivalentTo", source="OMIM:260000"}
xref: SCTID:40951006 {source="MONDO:kboom-pr-1.00/0.81/11.53", source="MONDO:equivalentTo"}
xref: UMLS:C0268165 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93599", source="OMIM:260000", source="NCIT:C123213"}
is_a: MONDO:0002474 {source="DC-OMIM:260000", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599", source="linkedlifedata"} ! primary hyperoxaluria
property_value: exactMatch http://identifiers.org/mesh/C536415
property_value: exactMatch http://identifiers.org/omim/260000
property_value: exactMatch http://identifiers.org/snomedct/40951006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268165
property_value: exactMatch NCIT:C123213
property_value: exactMatch Orphanet:93599
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 xsd:anyURI {source="GARD:0002836"}

[Term]
id: MONDO:0009825
name: 5-oxoprolinase deficiency (disease)
def: "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." [Orphanet:33572]
subset: ordo_disease {source="Orphanet:33572"}
synonym: "5-alpha-oxoprolinase deficiency" RELATED [GARD:0005681]
synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005]
synonym: "5-oxoprolinase deficiency; OPLAHD" RELATED [OMIM:260005]
synonym: "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder" EXACT []
synonym: "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "OPLAHD" RELATED [MONDO:Lexical, OMIM:260005]
synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [OMIM:260005]
synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572]
synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:0005681 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0040142 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E72.8 {source="ORDO:33572/attributed", source="ORDO:33572/ntbt", source="Orphanet:33572"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535322 {source="MONDO:equivalentTo", source="ORDO:33572/e", source="MONDO:ontobio", source="Orphanet:33572"}
xref: OMIM:260005 {source="MONDO:equivalentTo", source="ORDO:33572/e", source="Orphanet:33572"}
xref: Orphanet:33572 {source="OMIM:260005", source="MONDO:equivalentTo"}
xref: SCTID:26132002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268525 {source="OMIM:260005", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:33572/e", source="Orphanet:33572"}
is_a: MONDO:0019241 {source="Orphanet:33572", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C535322
property_value: exactMatch http://identifiers.org/omim/260005
property_value: exactMatch http://identifiers.org/snomedct/26132002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268525
property_value: exactMatch Orphanet:33572

[Term]
id: MONDO:0009826
name: PA polymorphism of alpha-2-globulin
synonym: "Alpha-2-globulin polymorphism Pa" RELATED [OMIM:260100]
synonym: "PA polymorphism of alpha-2-globulin" EXACT [OMIM:260100]
xref: OMIM:260100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850104
property_value: exactMatch http://identifiers.org/omim/260100

[Term]
id: MONDO:0009827
name: pachyonychia congenita, autosomal recessive
comment: Editor note: we currently classify PC as AD
subset: speculative
synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130]
xref: MESH:C538094 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260130 {source="MONDO:equivalentTo"}
xref: UMLS:C1850103 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260130"}
is_a: MONDO:0016471 {source="MESH:C538094", source="OMIM:260130", source="ORDO:2309/btnt"} ! pachyonychia congenita
relationship: disease_shares_features_of MONDO:0016471 {source="MONDO:Phenocopy", source="OMIM:260130"} ! pachyonychia congenita
property_value: exactMatch http://identifiers.org/mesh/C538094
property_value: exactMatch http://identifiers.org/omim/260130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850103

[Term]
id: MONDO:0009828
name: palant cleft palate syndrome
subset: gard_rare {source="GARD:0004198"}
synonym: "Palant cleft palate syndrome" EXACT [OMIM:260150]
synonym: "unusual facies, cleft palate, mental retardation, and limb abnormalities" RELATED [GARD:0004198]
xref: GARD:0004198 {source="MONDO:equivalentTo"}
xref: MESH:C538102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260150 {source="MONDO:equivalentTo"}
xref: UMLS:C1850102 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260150"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538102
property_value: exactMatch http://identifiers.org/omim/260150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome xsd:anyURI {source="GARD:0004198"}

[Term]
id: MONDO:0009829
name: pallidal degeneration, progressive, with retinitis pigmentosa
synonym: "pallidal degeneration, progressive, with retinitis pigmentosa" EXACT [OMIM:260200]
xref: MESH:C564910 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260200 {source="MONDO:equivalentTo"}
xref: UMLS:C1850101 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260200"}
is_a: MONDO:0003847 {source="MESH:C564910/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564910
property_value: exactMatch http://identifiers.org/omim/260200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850101

[Term]
id: MONDO:0009830
name: parkinsonian-pyramidal syndrome
def: "A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3." [DOID:0060372, PMID:22315721]
subset: ordo_disease {source="Orphanet:171695"}
synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [DOID:0060372]
synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [DOID:0060372, MONDORULE:2]
synonym: "autosomal recessive early-onset Parkinson's disease 15" RELATED [DOID:0060372]
synonym: "pallido-pyramidal disease" RELATED [GARD:0009175]
synonym: "pallido-pyramidal syndrome" RELATED [OMIM:260300]
synonym: "Pallidopyramidal syndrome" EXACT [OMIM:260300, Orphanet:171695]
synonym: "pallidopyramidal syndrome" EXACT [DOID:0060372]
synonym: "PARK15" RELATED [MONDO:Lexical, OMIM:260300]
synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:260300]
synonym: "Parkinson disease 15, autosomal recessive early-onset; PARK15" RELATED [OMIM:260300]
synonym: "parkinsonian-pyramidal syndrome" EXACT [DOID:0060372, OMIM:260300]
xref: DOID:0060372 {source="MONDO:equivalentTo"}
xref: GARD:0009175 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G20 {source="ORDO:171695/attributed", source="ORDO:171695/ntbt", source="Orphanet:171695"}
xref: MESH:C538104 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="ORDO:171695/e", source="DOID:0060372"}
xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"}
xref: UMLS:C1850100 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171695", source="OMIM:260300"}
is_a: MONDO:0017279 {source="DOID:0060372", source="MONDOLEX:0009830"} ! young-onset Parkinson disease
property_value: exactMatch DOID:0060372
property_value: exactMatch http://identifiers.org/mesh/C538104
property_value: exactMatch http://identifiers.org/omim/260300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850100
property_value: exactMatch Orphanet:171695

[Term]
id: MONDO:0009831
name: malignant pancreatic neoplasm
def: "A malignant neoplasm involving the pancreas." [MONDO:DesignPattern]
synonym: "Ca body of pancreas" EXACT [DOID:1793]
synonym: "Ca head of pancreas" EXACT [DOID:1793]
synonym: "Ca tail of pancreas" EXACT [DOID:1793]
synonym: "cancer of pancreas" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of body of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of head of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of pancreas" EXACT [MONDO:patterns/cancer, NCIT:C9005]
synonym: "malignant neoplasm of tail of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of the pancreas" EXACT [NCIT:C9005]
synonym: "malignant pancreas neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pancreatic neoplasm" EXACT [NCIT:C9005]
synonym: "pancreas cancer" EXACT [MONDO:patterns/location]
synonym: "pancreas neoplasm" EXACT [DOID:1793]
synonym: "pancreatic cancer" EXACT [MONDO:DesignPattern]
synonym: "pancreatic neoplasm" EXACT EXCLUDE [DOID:1793]
synonym: "pancreatic tumor" EXACT EXCLUDE [DOID:1793]
xref: DOID:1793 {source="MONDO:equivalentTo"}
xref: EFO:1000359 {source="MONDO:equivalentTo"}
xref: ICD10:C25.9 {source="MONDO:ICD_NOS"}
xref: ICD9:157.0 {source="DOID:1793"}
xref: ICD9:157.1 {source="DOID:1793"}
xref: ICD9:157.2 {source="DOID:1793"}
xref: ICD9:157.8 {source="DOID:1793"}
xref: KEGG:05212 {source="DOID:1793", source="MONDO:equivalentTo"}
xref: NCIT:C9005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002516 {source="MONDO:Redundant", source="NCIT:C9005"} ! digestive system cancer
is_a: MONDO:0021040 {source="EFO:1000359", source="MONDO:Redundant", source="NCIT:C9005"} ! pancreatic neoplasm
relationship: disease_has_feature MONDO:0006515 {source="Wikidata"} ! acute pancreatitis
property_value: closeMatch http://identifiers.org/snomedct/154476001
property_value: closeMatch http://identifiers.org/snomedct/154477005
property_value: closeMatch http://identifiers.org/snomedct/154478000
property_value: closeMatch http://identifiers.org/snomedct/187791002
property_value: closeMatch http://identifiers.org/snomedct/187792009
property_value: closeMatch http://identifiers.org/snomedct/187796007
property_value: closeMatch http://identifiers.org/snomedct/269553001
property_value: closeMatch http://identifiers.org/snomedct/269554007
property_value: closeMatch http://identifiers.org/snomedct/269555008
property_value: closeMatch http://identifiers.org/snomedct/363419009
property_value: closeMatch http://identifiers.org/snomedct/93715005
property_value: closeMatch http://identifiers.org/snomedct/93823001
property_value: closeMatch http://identifiers.org/snomedct/94082003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030297
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153458
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153459
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153460
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153463
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346647
property_value: exactMatch DOID:1793
property_value: exactMatch NCIT:C9005

[Term]
id: MONDO:0009832
name: pancreatic agenesis
def: "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." [Orphanet:2805]
subset: ordo_morphological_anomaly {source="Orphanet:2805"}
subset: prototype_pattern
synonym: "congenital pancreatic agenesis" EXACT [Orphanet:2805]
synonym: "PAGEN1" RELATED [MONDO:Lexical, OMIM:260370]
synonym: "pancreatic agenesis 1" RELATED [MONDO:Lexical, OMIM:260370]
synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370]
synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805]
synonym: "partial pancreatic agenesis" EXACT [DOID:0050877]
xref: DOID:0050877 {source="MONDO:equivalentTo"}
xref: ICD10:Q45.0 {source="Orphanet:2805", source="ORDO:2805/attributed", source="ORDO:2805/ntbt"}
xref: MESH:C564908 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:260370 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2805 {source="MONDO:equivalentTo", source="OMIM:260370"}
xref: SCTID:719044008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850096 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015213 {source="Orphanet:2805"} ! non-syndromic visceral malformation
property_value: exactMatch DOID:0050877
property_value: exactMatch http://identifiers.org/mesh/C564908
property_value: exactMatch http://identifiers.org/snomedct/719044008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850096
property_value: exactMatch Orphanet:2805

[Term]
id: MONDO:0009833
name: Shwachman-Diamond syndrome
alt_id: MONDO:0000843
def: "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." [Orphanet:811]
subset: gard_rare {source="GARD:0004863"}
subset: ordo_disease {source="Orphanet:811"}
synonym: "congenital lipomatosis of pancreas" RELATED [GARD:0004863]
synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400]
synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [DOID:0060479, Orphanet:811]
synonym: "Schwachman-Diamond syndrome" EXACT [OMIMPS:260400]
synonym: "Schwachmann-Diamond syndrome" EXACT [NCIT:C61235]
synonym: "SDS" EXACT [MONDO:Lexical, OMIM:260400, Orphanet:811]
synonym: "Shwachman syndrome" EXACT [DOID:0060479, Orphanet:811]
synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [DOID:0060479, Orphanet:811]
synonym: "Shwachman-Diamond syndrome" EXACT [MONDO:Lexical, OMIM:260400]
synonym: "Shwachman-Diamond syndrome; SDS" RELATED [OMIM:260400]
synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023]
xref: DOID:0060479 {source="MONDO:equivalentTo"}
xref: DOID:0080023 {source="MONDO:equivalentTo"}
xref: GARD:0004863 {source="MONDO:equivalentTo"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="Orphanet:811", source="DOID:0060479", source="ORDO:811/inclusion", source="ORDO:811/ntbt"}
xref: MedDRA:10067940 {source="ORDO:811/e", source="Orphanet:811"}
xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C61235 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:260400 {source="MONDO:equivalentTo"}
xref: Orphanet:811 {source="MONDO:equivalentTo", source="OMIM:260400"}
xref: SCTID:89454001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/859"} ! syndromic disease
is_a: MONDO:0006025 {source="https://en.wikipedia.org/wiki/Shwachman%E2%80%93Diamond_syndrome#Genetics"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0000841 {source="DOID:0080023"} ! obsolete metaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:811"} ! inherited aplastic anemia
relationship: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:811", source="indirect"} ! pancreas disease
relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:811"} ! polymalformative genetic syndrome with increased risk of developing cancer
relationship: excluded_subClassOf MONDO:0015978 {source="Orphanet:811"} ! functional neutrophil defect
relationship: excluded_subClassOf MONDO:0019693 {source="Orphanet:811"} ! multiple metaphyseal dysplasia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272170
property_value: exactMatch DOID:0060479
property_value: exactMatch DOID:0080023
property_value: exactMatch http://identifiers.org/meddra/10067940
property_value: exactMatch http://identifiers.org/mesh/C537330
property_value: exactMatch http://identifiers.org/snomedct/89454001
property_value: exactMatch NCIT:C61235
property_value: exactMatch Orphanet:811
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome xsd:anyURI {source="GARD:0004863"}

[Term]
id: MONDO:0009834
name: obsolete pancreatic insufficiency, combined exocrine
is_obsolete: true
replaced_by: MONDO:0009479

[Term]
id: MONDO:0009835
name: subacute sclerosing panencephalitis
def: "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." [Orphanet:2806]
subset: gard_rare {source="GARD:0007708"}
subset: ordo_disease {source="Orphanet:2806"}
synonym: "Dawson disease" RELATED [GARD:0007708]
synonym: "Dawson encephalitis" RELATED [GARD:0007708]
synonym: "Dawson's encephalitis" EXACT [Orphanet:2806]
synonym: "Immunosuppressive measles encephalitis" EXACT [DOID:8970]
synonym: "panencephalitis, SUBACUTE sclerosing" RELATED [OMIM:260470]
synonym: "SSPE" EXACT [Orphanet:2806]
synonym: "Subacute inclusion body encephalitis" EXACT [Orphanet:2806]
synonym: "Subacute sclerosing leukoencephalitis" RELATED [Orphanet:2806]
synonym: "subacute sclerosing leukoencephalopathy" EXACT [CSP2005:2042-2360, DOID:8970]
synonym: "Subacute sclerosing panencephalitis" EXACT [DOID:8970, MTH:NOCODE, Orphanet:2806]
synonym: "subacute sclerosing panencephalitis" EXACT [OMIM:260470]
synonym: "Subacute sclerosing panencephalitis (disorder) [ambiguous]" EXACT [DOID:8970]
synonym: "Van Bogaert disease" EXACT [Orphanet:2806]
synonym: "Van Bogaert encephalitis" EXACT [Orphanet:2806]
synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970, MTHICD9_2006:046.2]
xref: COHD:373408 {source="MONDO:equivalentTo"}
xref: DOID:8970 {source="EFO:0007502", source="MONDO:equivalentTo"}
xref: EFO:0007502 {source="MONDO:equivalentTo"}
xref: GARD:0007708 {source="MONDO:equivalentTo"}
xref: ICD10:A81.1 {source="MONDO:equivalentTo", source="DOID:8970", source="ORDO:2806/ntbt", source="Orphanet:2806"}
xref: ICD9:046.2 {source="DOID:8970"}
xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:8970"}
xref: NCIT:C85171 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:8970"}
xref: OMIM:260470 {source="MONDO:equivalentTo", source="DOID:8970", source="ORDO:2806/e", source="Orphanet:2806"}
xref: Orphanet:2806 {source="MONDO:equivalentTo", source="OMIM:260470"}
xref: UMLS:C0038522 {source="NCBI:mim2gene_medline", source="NCIT:C85171", source="MONDO:equivalentTo", source="OMIM:260470", source="DOID:8970", source="Orphanet:2806"}
is_a: MONDO:0004619 ! measles
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C85171"} ! viral encephalitis
is_a: MONDO:0015659 {source="Orphanet:2806"} ! infectious disease with epilepsy
is_a: MONDO:0020069 {source="Orphanet:2806"} ! chronic encephalitis
property_value: closeMatch http://identifiers.org/snomedct/186484007
property_value: closeMatch http://identifiers.org/snomedct/192685000
property_value: closeMatch http://identifiers.org/snomedct/359686005
property_value: closeMatch http://identifiers.org/snomedct/416154000
property_value: closeMatch http://identifiers.org/snomedct/84196008
property_value: exactMatch DOID:8970
property_value: exactMatch http://identifiers.org/mesh/D013344
property_value: exactMatch http://identifiers.org/omim/260470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038522
property_value: exactMatch NCIT:C85171
property_value: exactMatch Orphanet:2806
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis xsd:anyURI {source="GARD:0007708"}

[Term]
id: MONDO:0009836
name: pancreatitis, sclerosing cholangitis, and sicca complex
synonym: "pancreatitis, sclerosing cholangitis, and sicca complex" EXACT [OMIM:260480]
xref: MESH:C564906 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260480 {source="MONDO:equivalentTo"}
xref: UMLS:C1850080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260480"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564906
property_value: exactMatch http://identifiers.org/omim/260480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850080

[Term]
id: MONDO:0009837
name: choroid plexus papilloma
def: "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." [Orphanet:2807]
subset: ordo_disease {source="Orphanet:2807"}
synonym: "childhood choroid plexus papilloma" NARROW [DOID:2626]
synonym: "childhood papilloma of choroid plexus" NARROW [DOID:2626]
synonym: "choroid plexus carcinoma" RELATED [OMIM:260500]
synonym: "choroid plexus papilloma" EXACT [MONDO:patterns/location, NCIT:C3698, OMIM:260500, Orphanet:2807]
synonym: "choroid plexus papilloma NOS (morphologic abnormality)" NARROW [DOID:2626]
synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [DOID:2626]
synonym: "CPP" RELATED [MONDO:Lexical, OMIM:260500, Orphanet:2807]
synonym: "papilloma of choroid plexus" RELATED [MONDO:Lexical, NCIT:C3698, OMIM:260500]
synonym: "papilloma of choroid plexus; CPP" RELATED [OMIM:260500]
synonym: "papilloma of the choroid plexus" EXACT [DOID:2626, NCIT:C3698]
synonym: "papilloma, choroid plexus, benign" RELATED [NCIT:C3698]
synonym: "pediatric papilloma of choroid plexus" NARROW [DOID:2626, NCIT:C5800]
xref: DOID:2626 {source="MONDO:equivalentTo"}
xref: EFO:1000177 {source="MONDO:equivalentTo"}
xref: GARD:0004214 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D33.0 {source="ORDO:2807/ntbt", source="Orphanet:2807"}
xref: ICDO:9390/0 {source="NCIT:C3698"}
xref: MedDRA:10008777 {source="Orphanet:2807", source="ORDO:2807/e"}
xref: MESH:D020288 {source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807", source="ORDO:2807/e"}
xref: NCIT:C3698 {source="MONDO:equivalentTo", source="DOID:2626"}
xref: OMIM:260500 {source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807", source="ORDO:2807/e"}
xref: ONCOTREE:CPP {source="MONDO:equivalentTo"}
xref: Orphanet:2807 {source="OMIM:260500", source="MONDO:equivalentTo"}
xref: SCTID:425868004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C0205770 {source="OMIM:260500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2626", source="NCIT:C3698", source="Orphanet:2807", source="ORDO:2807/e"}
is_a: MONDO:0002363 {source="DOID:2626", source="MONDO:Redundant", source="NCIT:C3698"} ! papilloma
is_a: MONDO:0044764 {source="MONDO:Redundant", source="NCIT:C3698", source="linkedlifedata"} ! benign choroid plexus neoplasm
relationship: has_modifier MONDO:0024491 {source="NCIT:C3698"} ! tumor grade 1, general grading system
property_value: closeMatch http://identifiers.org/snomedct/18021007
property_value: closeMatch http://identifiers.org/snomedct/189911002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332963
property_value: closeMatch NCIT:C5800
property_value: exactMatch DOID:2626
property_value: exactMatch http://identifiers.org/meddra/10008777
property_value: exactMatch http://identifiers.org/mesh/D020288
property_value: exactMatch http://identifiers.org/omim/260500
property_value: exactMatch http://identifiers.org/snomedct/425868004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205770
property_value: exactMatch NCIT:C3698
property_value: exactMatch Orphanet:2807

[Term]
id: MONDO:0009838
name: Parana hard-skin syndrome
def: "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." [NCIT:C126559]
subset: ordo_disease {source="Orphanet:2812"}
synonym: "hard skin syndrome Parana type" EXACT [NCIT:C126559]
synonym: "hard skin syndrome, Parana type" EXACT [Orphanet:2812]
synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812]
synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812]
synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530]
xref: GARD:0002598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L91.8 {source="ORDO:2812/attributed", source="ORDO:2812/ntbt", source="Orphanet:2812"}
xref: MESH:C564905 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126559 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:260530 {source="MONDO:equivalentTo", source="Orphanet:2812", source="ORDO:2812/e"}
xref: Orphanet:2812 {source="MONDO:equivalentTo", source="OMIM:260530"}
xref: UMLS:C1850079 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2812", source="OMIM:260530", source="NCIT:C126559"}
is_a: MONDO:0002254 {source="MONDOLEX:0009838", source="NCIT:C126559"} ! syndromic disease
is_a: MONDO:0019299 {source="Orphanet:2812"} ! unclassified genetic skin disorder
property_value: exactMatch http://identifiers.org/mesh/C564905
property_value: exactMatch http://identifiers.org/omim/260530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850079
property_value: exactMatch NCIT:C126559
property_value: exactMatch Orphanet:2812

[Term]
id: MONDO:0009839
name: progressive supranuclear palsy-parkinsonism syndrome
def: "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." [Orphanet:240085]
subset: ordo_clinical_subtype {source="Orphanet:240085"}
synonym: "atypical PSP" RELATED [GARD:0004507]
synonym: "Parkinson-dementia syndrome" RELATED [OMIM:260540]
synonym: "progressive supranuclear palsy atypical" RELATED [GARD:0004507]
synonym: "PSP-p" EXACT [Orphanet:240085]
synonym: "PSP-parkinsonism" EXACT [Orphanet:240085]
synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540]
synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540]
xref: GARD:0004507 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G23.1 {source="Orphanet:240085", source="ORDO:240085/attributed", source="ORDO:240085/ntbt"}
xref: MESH:C537240 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260540 {source="Orphanet:240085", source="ORDO:240085/e", source="MONDO:equivalentTo"}
xref: Orphanet:240085 {source="MONDO:equivalentTo", source="OMIM:260540"}
xref: UMLS:CN201680 {source="MONDO:equivalentTo"}
is_a: MONDO:0020488 {source="Orphanet:240085"} ! atypical progressive supranuclear palsy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850076
property_value: exactMatch http://identifiers.org/mesh/C537240
property_value: exactMatch http://identifiers.org/omim/260540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201680
property_value: exactMatch Orphanet:240085

[Term]
id: MONDO:0009840
name: Partington-Anderson syndrome
synonym: "Partington-Anderson syndrome" EXACT [OMIM:260555]
xref: MESH:C536299 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260555 {source="MONDO:equivalentTo"}
xref: Orphanet:2829 {source="OMIM:260555", source="MONDO:equivalentTo"}
xref: UMLS:C1850075 {source="OMIM:260555", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN202825 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536299
property_value: exactMatch http://identifiers.org/omim/260555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202825
property_value: exactMatch Orphanet:2829

[Term]
id: MONDO:0009841
name: PEHO syndrome
def: "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." [Orphanet:2836]
subset: gard_rare {source="GARD:0004264"}
subset: ordo_disease {source="Orphanet:2836"}
synonym: "infantile Cerebellooptic atrophy" RELATED [OMIM:260565]
synonym: "peho" RELATED [OMIM:260565]
synonym: "peho syndrome" EXACT [OMIM:260565]
synonym: "peho syndrome; peho" RELATED [OMIM:260565]
synonym: "peho-like syndrome" RELATED [OMIM:260565]
synonym: "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" EXACT [Orphanet:2836]
synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [OMIM:260565]
synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836]
xref: GARD:0004264 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="ORDO:2836/attributed", source="ORDO:2836/ntbt", source="Orphanet:2836"}
xref: MESH:C536317 {source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e"}
xref: OMIM:260565 {source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e"}
xref: Orphanet:2836 {source="MONDO:equivalentTo", source="OMIM:260565"}
xref: UMLS:C1850055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e", source="OMIM:260565"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015650 {source="Orphanet:2836"} ! epilepsy syndrome
is_a: MONDO:0018609 {source="Orphanet:2836"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="Orphanet:2836"} ! syndromic lymphedema
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:2836"} ! inherited neurodegenerative disorder
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850056
property_value: exactMatch http://identifiers.org/mesh/C536317
property_value: exactMatch http://identifiers.org/omim/260565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850055
property_value: exactMatch Orphanet:2836
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome xsd:anyURI {source="GARD:0004264"}

[Term]
id: MONDO:0009842
name: Pelger-Huet-like anomaly and episodic fever with abdominal pain
synonym: "Pelger-Huet-like anomaly and episodic fever with abdominal pain" EXACT [OMIM:260570]
xref: MESH:C564899 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260570 {source="MONDO:equivalentTo"}
xref: UMLS:C1850054 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260570"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564899
property_value: exactMatch http://identifiers.org/omim/260570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850054

[Term]
id: MONDO:0009843
name: hypomyelinating leukodystrophy 3
def: "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0004266"}
subset: ordo_clinical_subtype {source="Orphanet:280293"}
synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD3" EXACT [DOID:0060790, MONDO:Lexical, OMIM:260600]
synonym: "hypomyelinating leukodystrophy type 3" EXACT [DOID:0060790, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in AIMP1" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating 3" RELATED [GARD:0004266]
synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical, OMIM:260600]
synonym: "leukodystrophy, hypomyelinating, 3; HLD3" RELATED [OMIM:260600]
synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1, OMIM:260600]
synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790]
synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266]
xref: DOID:0060790 {source="MONDO:equivalentTo"}
xref: GARD:0004266 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:280293", source="ORDO:280293/attributed", source="ORDO:280293/ntbt", source="DOID:0060790"}
xref: MESH:C536319 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260600 {source="ORDO:280293/e", source="Orphanet:280293", source="MONDO:equivalentTo", source="DOID:0060790"}
xref: Orphanet:280293 {source="OMIM:260600", source="MONDO:equivalentTo", source="DOID:0060790"}
xref: UMLS:C1850053 {source="OMIM:260600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017226 {source="Orphanet:280293"} ! Pelizaeus-Merzbacher-like disease
property_value: exactMatch DOID:0060790
property_value: exactMatch http://identifiers.org/mesh/C536319
property_value: exactMatch http://identifiers.org/omim/260600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850053
property_value: exactMatch Orphanet:280293
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 xsd:anyURI {source="GARD:0004266"}

[Term]
id: MONDO:0009844
name: pellagra-like syndrome
subset: gard_rare {source="GARD:0004267"}
synonym: "pellagra like syndrome" RELATED [GARD:0004267]
synonym: "pellagra-like rash with neurologic manifestations" RELATED [GARD:0004267]
synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [Orphanet:2837]
synonym: "pellagra-like syndrome" EXACT [OMIM:260650]
xref: GARD:0004267 {source="MONDO:equivalentTo"}
xref: MESH:C538352 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260650 {source="MONDO:equivalentTo"}
xref: Orphanet:2837 {source="MONDO:equivalentTo", source="OMIM:260650"}
xref: UMLS:C1850052 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260650"}
is_a: MONDO:0003847 {source="Orphanet:2837/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538352
property_value: exactMatch http://identifiers.org/omim/260650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850052
property_value: exactMatch Orphanet:2837
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome xsd:anyURI {source="GARD:0004267"}

[Term]
id: MONDO:0009845
name: pelviscapular dysplasia
def: "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." [Orphanet:93333]
subset: ordo_malformation_syndrome {source="Orphanet:93333"}
synonym: "COUSIN syndrome" RELATED [OMIM:260660]
synonym: "Cousin syndrome" EXACT [Orphanet:93333]
synonym: "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" RELATED [GARD:0001555]
synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [OMIM:260660]
synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333]
synonym: "pelviscapular dysplasia" EXACT [OMIM:260660]
xref: GARD:0001555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.5 {source="Orphanet:93333", source="ORDO:93333/attributed", source="ORDO:93333/ntbt"}
xref: MESH:C535550 {source="ORDO:93333/e", source="Orphanet:93333", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260660 {source="ORDO:93333/e", source="Orphanet:93333", source="MONDO:equivalentTo"}
xref: Orphanet:93333 {source="MONDO:equivalentTo", source="OMIM:260660"}
xref: SCTID:719299009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1850040 {source="ORDO:93333/e", source="Orphanet:93333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260660"}
is_a: MONDO:0017432 {source="Orphanet:93333"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:93333", source="Orphanet:93333/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535550
property_value: exactMatch http://identifiers.org/omim/260660
property_value: exactMatch http://identifiers.org/snomedct/719299009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850040
property_value: exactMatch Orphanet:93333

[Term]
id: MONDO:0009846
name: pentosuria
def: "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." [Orphanet:2843]
subset: gard_rare {source="GARD:0000418"}
subset: mostly_harmless {source="PMID:29884839"}
subset: ordo_disease {source="Orphanet:2843"}
synonym: "essential pentosuria" EXACT [Orphanet:2843]
synonym: "L-xylulose reductase deficiency" RELATED [OMIM:260800]
synonym: "L-Xylulosuria" RELATED [OMIM:260800]
synonym: "pentosuria" EXACT [MONDO:Lexical, OMIM:260800]
synonym: "pentosuria; PNTSU" RELATED [OMIM:260800]
synonym: "PNTSU" RELATED [MONDO:Lexical, OMIM:260800]
synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843]
xref: GARD:0000418 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="ORDO:2843/ntbt", source="Orphanet:2843", source="ORDO:2843/inclusion"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064170 {source="Orphanet:2843", source="ORDO:2843/e"}
xref: MESH:C536652 {source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e", source="MONDO:ontobio"}
xref: OMIM:260800 {source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e"}
xref: Orphanet:2843 {source="OMIM:260800", source="MONDO:equivalentTo"}
xref: SCTID:190764000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46"}
xref: UMLS:C0268162 {source="OMIM:260800", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e"}
is_a: MONDO:0018605 {source="Orphanet:2843"} ! disorders of pentose/polyol metabolism
property_value: exactMatch http://identifiers.org/meddra/10064170
property_value: exactMatch http://identifiers.org/mesh/C536652
property_value: exactMatch http://identifiers.org/omim/260800
property_value: exactMatch http://identifiers.org/snomedct/190764000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268162
property_value: exactMatch Orphanet:2843
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/418/pentosuria xsd:anyURI {source="GARD:0000418"}

[Term]
id: MONDO:0009847
name: pericardial effusion, chronic
def: "Chronic form of pericardial effusion (disease)." [MONDO:patterns/chronic]
synonym: "cholesterol pericarditis" RELATED [OMIM:260900]
synonym: "chronic pericardial effusion (disease)" EXACT []
synonym: "pericardial effusion (disease), chronic" EXACT [MONDO:patterns/chronic]
synonym: "pericardial effusion, chronic" EXACT [OMIM:260900]
xref: MESH:C564895 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260900 {source="MONDO:equivalentTo"}
xref: UMLS:C1850039 {source="NCBI:mim2gene_medline", source="OMIM:260900", source="MONDO:equivalentTo"}
is_a: MONDO:0001370 ! pericardial effusion (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564895
property_value: exactMatch http://identifiers.org/omim/260900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850039

[Term]
id: MONDO:0009848
name: dissecting cellulitis of the scalp
def: "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." [Orphanet:345]
subset: gard_rare {source="GARD:0001883"}
subset: ordo_disease {source="Orphanet:345"}
synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910]
synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [OMIM:260910]
xref: GARD:0001883 {source="MONDO:equivalentTo"}
xref: ICD10:L08.8 {source="Orphanet:345", source="ORDO:345/ntbt"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056961 {source="Orphanet:345", source="ORDO:345/e"}
xref: MESH:C562486 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260910 {source="Orphanet:345", source="MONDO:equivalentTo", source="ORDO:345/e"}
xref: Orphanet:345 {source="OMIM:260910", source="MONDO:equivalentTo"}
xref: SCTID:77333008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0263506 {source="OMIM:260910", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019296 {source="Orphanet:345"} ! subcutaneous tissue disease
property_value: exactMatch http://identifiers.org/meddra/10056961
property_value: exactMatch http://identifiers.org/mesh/C562486
property_value: exactMatch http://identifiers.org/omim/260910
property_value: exactMatch http://identifiers.org/snomedct/77333008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263506
property_value: exactMatch Orphanet:345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp xsd:anyURI {source="GARD:0001883"}

[Term]
id: MONDO:0009849
name: hyperimmunoglobulinemia D with periodic fever
def: "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." [Orphanet:343]
subset: ordo_disease {source="Orphanet:343"}
synonym: "HIDS" EXACT [MONDO:Lexical, OMIM:260920, Orphanet:343]
synonym: "hyper IgD syndrome" RELATED [GARD:0002788]
synonym: "hyper-IgD syndrome" EXACT [MONDO:Lexical, OMIM:260920, Orphanet:343]
synonym: "hyper-IgD syndrome; HIDS" RELATED [OMIM:260920]
synonym: "hyperimmunoglobinemia D with recurrent fever" EXACT [Orphanet:343]
synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" RELATED [OMIM:260920]
synonym: "hyperimmunoglobulinemia D syndrome" EXACT [Orphanet:343]
synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343]
synonym: "periodic fever Dutch type" RELATED [GARD:0002788]
synonym: "periodic fever, Dutch type" RELATED [OMIM:260920]
xref: GARD:0002788 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E85.0 {source="ORDO:343/attributed", source="ORDO:343/ntbt", source="Orphanet:343"}
xref: OMIM:260920 {source="MONDO:equivalentTo", source="ORDO:343/e", source="Orphanet:343"}
xref: Orphanet:343 {source="OMIM:260920", source="MONDO:equivalentTo"}
xref: UMLS:C0398691 {source="OMIM:260920", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94", source="Orphanet:343"}
is_a: MONDO:0017369 {source="Orphanet:343"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017708 {source="Orphanet:343"} ! mevalonate kinase deficiency
property_value: exactMatch http://identifiers.org/omim/260920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398691
property_value: exactMatch Orphanet:343

[Term]
id: MONDO:0009850
name: periodontitis, chronic, adult
synonym: "periodontitis, adult" BROAD [OMIM:260950]
synonym: "periodontitis, chronic" BROAD [OMIM:260950]
xref: OMIM:260950 {source="MONDO:equivalentTo"}
xref: SCTID:74797001 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C0266929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260950"}
is_a: MONDO:0005593 {source="MONDOLEX:0009850"} ! chronic periodontitis
is_a: MONDO:0019183 ! inherited odontologic disease
property_value: exactMatch http://identifiers.org/omim/260950
property_value: exactMatch http://identifiers.org/snomedct/74797001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266929

[Term]
id: MONDO:0009851
name: peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
synonym: "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" EXACT [OMIM:260970]
xref: MESH:C564894 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:260970 {source="MONDO:equivalentTo"}
xref: UMLS:C1850022 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260970"}
is_a: MONDO:0003847 {source="MESH:C564894/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564894
property_value: exactMatch http://identifiers.org/omim/260970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850022

[Term]
id: MONDO:0009852
name: congenital intrinsic factor deficiency
def: "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." [Orphanet:332]
subset: ordo_disease {source="Orphanet:332"}
synonym: "congenital pernicious anemia" EXACT [Orphanet:332]
synonym: "congenital pernicious anemia due to defect of intrinsic factor" RELATED [GARD:0003024]
synonym: "gastric intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "hereditary intrinsic factor deficiency" EXACT [DOID:0050734]
synonym: "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "IFD" EXACT [MONDO:Lexical, OMIM:261000, Orphanet:332]
synonym: "intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "intrinsic factor deficiency" RELATED [MONDO:Lexical, OMIM:261000]
synonym: "intrinsic factor deficiency; IFD" RELATED [OMIM:261000]
synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024]
synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000]
xref: DOID:0050734 {source="MONDO:equivalentTo"}
xref: GARD:0003024 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D51.0 {source="ORDO:332/attributed", source="ORDO:332/ntbt", source="Orphanet:332"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10070440 {source="ORDO:332/e", source="Orphanet:332"}
xref: MESH:C563242 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261000 {source="MONDO:equivalentTo", source="DOID:0050734", source="ORDO:332/e", source="Orphanet:332"}
xref: Orphanet:332 {source="MONDO:equivalentTo", source="OMIM:261000"}
xref: SCTID:34925000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.46/0.15"}
is_a: MONDO:0019220 {source="Orphanet:332"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0020109 {source="Orphanet:332"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1394891
property_value: exactMatch DOID:0050734
property_value: exactMatch http://identifiers.org/meddra/10070440
property_value: exactMatch http://identifiers.org/mesh/C563242
property_value: exactMatch http://identifiers.org/omim/261000
property_value: exactMatch http://identifiers.org/snomedct/34925000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340957
property_value: exactMatch Orphanet:332

[Term]
id: MONDO:0009853
name: Imerslund-Grasbeck syndrome
def: "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." [Orphanet:35858]
subset: ordo_disease {source="Orphanet:35858"}
synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006]
synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100]
synonym: "familial megaloblastic anemia" EXACT [Orphanet:35858]
synonym: "Gräsbeck-Imerslund disease" RELATED [Orphanet:35858]
synonym: "Imerslund-Grasbeck syndrome" EXACT [OMIM:261100]
synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677]
synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677]
synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858]
xref: GARD:0007006 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D51.1 {source="Orphanet:35858", source="ORDO:35858/attributed", source="ORDO:35858/ntbt"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:261100 {source="ORDO:35858/e", source="Orphanet:35858", source="MONDO:equivalentTo"}
xref: Orphanet:35858 {source="MONDO:equivalentTo", source="OMIM:261100"}
xref: SCTID:360495000 {source="MONDO:kboom-pr-0.92/0.83/0.15", source="MONDO:equivalentTo"}
is_a: MONDO:0015179 {source="Orphanet:35858"} ! intestinal disease due to vitamin absorption anomaly
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0019220 {source="Orphanet:35858"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0019743 {source="Orphanet:35858"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020109 {source="Orphanet:35858"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306856
property_value: exactMatch http://identifiers.org/snomedct/360495000
property_value: exactMatch Orphanet:35858

[Term]
id: MONDO:0009854
name: peroneus tertius muscle, absence of
synonym: "peroneus tertius muscle, absence of" EXACT [OMIM:261400]
xref: OMIM:261400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850001
property_value: exactMatch http://identifiers.org/omim/261400

[Term]
id: MONDO:0009855
name: d-bifunctional protein deficiency
def: "D-bifunctional protein deficiency (DBP deficiency)is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." [https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency]
subset: gard_rare {source="GARD:0004539"}
subset: ordo_disease {source="Orphanet:300"}
synonym: "17-Beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [OMIM:261515]
synonym: "17-BETA-hydroxysteroid dehydrogenase IV deficiency" RELATED [GARD:0004539]
synonym: "bifunctional enzyme deficiency" RELATED [GARD:0004539]
synonym: "D-bifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "d-bifunctional protein deficiency" EXACT [OMIM:261515]
synonym: "DBP deficiency" RELATED [OMIM:261515]
synonym: "multifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "Pbfe deficiency" RELATED [OMIM:261515]
synonym: "peroxisomal bifunctional enzyme deficiency" RELATED [OMIM:261515]
synonym: "peroxisomal multifunctional enzyme (MFE2) deficiency" EXACT [NCIT:C119676]
synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676]
xref: DOID:0090031 {source="MONDO:equivalentTo"}
xref: GARD:0004539 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="DOID:0090031", source="ORDO:300/attributed", source="ORDO:300/ntbt", source="Orphanet:300"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C119676 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:261515 {source="DOID:0090031", source="MONDO:equivalentTo", source="ORDO:300/e", source="Orphanet:300"}
xref: Orphanet:300 {source="OMIM:261515", source="DOID:0090031", source="MONDO:equivalentTo"}
xref: SCTID:238068007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.88"}
xref: UMLS:C0342870 {source="OMIM:261515", source="NCBI:mim2gene_medline", source="NCIT:C119676", source="MONDO:equivalentTo", source="ORDO:300/e", source="Orphanet:300"}
xref: UMLS:C1533628 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN203333 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019233 {source="Orphanet:300"} ! peroxisomal beta-oxidation disorder
property_value: exactMatch DOID:0090031
property_value: exactMatch http://identifiers.org/mesh/C536663
property_value: exactMatch http://identifiers.org/omim/261515
property_value: exactMatch http://identifiers.org/snomedct/238068007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203333
property_value: exactMatch NCIT:C119676
property_value: exactMatch Orphanet:300
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency xsd:anyURI {source="GARD:0004539"}

[Term]
id: MONDO:0009856
name: Peters plus syndrome
def: "Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." [Orphanet:709]
subset: gard_rare {source="GARD:0008422"}
subset: ordo_malformation_syndrome {source="Orphanet:709"}
synonym: "Krause-Kivlin syndrome" EXACT [DOID:0080201, OMIM:261540, Orphanet:709]
synonym: "Krause-van Schooneveld-Kivlin syndrome" EXACT [Orphanet:709]
synonym: "Peters anomaly with short limb dwarfism" EXACT [Orphanet:709]
synonym: "Peters anomaly with short-limb dwarfism" RELATED [OMIM:261540]
synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [DOID:0080201]
synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540]
xref: DOID:0070312 {source="MONDO:equivalentTo"}
xref: DOID:0080201 {source="MONDO:equivalentTo"}
xref: GARD:0008422 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.4 {source="ORDO:709/attributed", source="ORDO:709/ntbt", source="Orphanet:709"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537617 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123436 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.02"}
xref: OMIM:261540 {source="MONDO:equivalentTo", source="DOID:0070312", source="ORDO:709/e", source="Orphanet:709"}
xref: Orphanet:709 {source="MONDO:equivalentTo", source="OMIM:261540"}
xref: SCTID:449817000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796012 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261540", source="NCIT:C123436", source="Orphanet:709"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:709"} ! syndromic developmental defect of the eye
is_a: MONDO:0017747 {source="Orphanet:709"} ! disorder of fucoglycosan synthesis
is_a: MONDO:0018286 {source="Orphanet:709"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018290 {source="Orphanet:709"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0020222 {source="Orphanet:709"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0070312
property_value: exactMatch DOID:0080201
property_value: exactMatch http://identifiers.org/mesh/C537617
property_value: exactMatch http://identifiers.org/omim/261540
property_value: exactMatch http://identifiers.org/snomedct/449817000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796012
property_value: exactMatch NCIT:C123436
property_value: exactMatch Orphanet:709
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome xsd:anyURI {source="GARD:0008422"}

[Term]
id: MONDO:0009857
name: persistent Mullerian duct syndrome
def: "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." [Orphanet:2856]
subset: gard_rare {source="GARD:0008435"}
subset: ordo_malformation_syndrome {source="Orphanet:2856"}
synonym: "female genital ducts in otherwise normal Male" RELATED [OMIM:261550]
synonym: "female genital ducts in otherwise normal male" RELATED [GARD:0008435]
synonym: "hernia uteri inguinale" RELATED [OMIM:261550]
synonym: "persistent Muellerian duct syndrome" EXACT [DOID:0050791]
synonym: "persistent Mullerian derivatives" EXACT [Orphanet:2856]
synonym: "persistent mullerian duct syndrome, types 1 and 2" RELATED [GARD:0008435]
synonym: "persistent MULLERIAN duct syndrome, types I and II" RELATED [MONDO:Lexical, OMIM:261550]
synonym: "persistent MULLERIAN duct syndrome, types I and II; PMDS" RELATED [OMIM:261550]
synonym: "persistent Müllerian derivatives" EXACT [Orphanet:2856]
synonym: "persistent Müllerian duct syndrome" RELATED [Orphanet:2856]
synonym: "persistent oviduct syndrome" RELATED [OMIM:261550]
synonym: "PMDS" EXACT [MONDO:Lexical, OMIM:261550, Orphanet:2856]
synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550]
xref: DOID:0050791 {source="MONDO:equivalentTo"}
xref: GARD:0008435 {source="MONDO:equivalentTo"}
xref: ICD10:Q55.8 {source="ORDO:2856/attributed", source="ORDO:2856/ntbt", source="Orphanet:2856"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="MONDO:ontobio", source="DOID:0050791"}
xref: NCIT:C120188 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050791"}
xref: OMIM:261550 {source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="DOID:0050791"}
xref: Orphanet:2856 {source="MONDO:equivalentTo", source="OMIM:261550"}
xref: SCTID:702358005 {source="MONDO:kboom-pr-1.00/0.79/8.02", source="MONDO:equivalentTo", source="DOID:0050791"}
xref: UMLS:C1849930 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="NCIT:C120188", source="OMIM:261550", source="DOID:0050791"}
is_a: MONDO:0005518 {source="DOID:0050791"} ! pseudohermaphroditism
is_a: MONDO:0017969 {source="Orphanet:2856"} ! 46,XY disorder of sex development of endocrine origin
is_a: MONDO:0018396 {source="Orphanet:2856"} ! rare male fertility disorder with obstructive azoospermia
is_a: MONDO:0018409 {source="Orphanet:2856"} ! rare genetic disorder with obstructive azoospermia
property_value: exactMatch DOID:0050791
property_value: exactMatch http://identifiers.org/mesh/C536665
property_value: exactMatch http://identifiers.org/omim/261550
property_value: exactMatch http://identifiers.org/snomedct/702358005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849930
property_value: exactMatch NCIT:C120188
property_value: exactMatch Orphanet:2856
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome xsd:anyURI {source="GARD:0008435"}

[Term]
id: MONDO:0009858
name: Pfeiffer-Palm-Teller syndrome
def: "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." [Orphanet:2871]
subset: gard_rare {source="GARD:0004305"}
subset: ordo_malformation_syndrome {source="Orphanet:2871"}
synonym: "Pfeiffer Palm Teller syndrome" RELATED [GARD:0004305]
synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560]
synonym: "PPT syndrome" RELATED [OMIM:261560]
synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305]
synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560]
xref: GARD:0004305 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:2871", source="ORDO:2871/attributed", source="ORDO:2871/ntbt"}
xref: MESH:C537889 {source="ORDO:2871/e", source="Orphanet:2871", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261560 {source="ORDO:2871/e", source="Orphanet:2871", source="MONDO:equivalentTo"}
xref: Orphanet:2871 {source="MONDO:equivalentTo", source="OMIM:261560"}
xref: SCTID:726672000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849929 {source="ORDO:2871/e", source="Orphanet:2871", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261560"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2871", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2871"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537889
property_value: exactMatch http://identifiers.org/omim/261560
property_value: exactMatch http://identifiers.org/snomedct/726672000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849929
property_value: exactMatch Orphanet:2871
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome xsd:anyURI {source="GARD:0004305"}

[Term]
id: MONDO:0009859
name: PHAVER syndrome
def: "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." [Orphanet:2876]
subset: gard_rare {source="GARD:0004465"}
subset: ordo_malformation_syndrome {source="Orphanet:2876"}
synonym: "PHAVER syndrome" EXACT [OMIM:261575]
synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876]
synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465]
xref: GARD:0004465 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2876/attributed", source="ORDO:2876/ntbt", source="Orphanet:2876"}
xref: MESH:C538357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="ORDO:2876/e"}
xref: Orphanet:2876 {source="MONDO:equivalentTo", source="OMIM:261575"}
xref: SCTID:723453002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2876", source="OMIM:261575"}
is_a: MONDO:0043008 {source="Orphanet:2876"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538357
property_value: exactMatch http://identifiers.org/omim/261575
property_value: exactMatch http://identifiers.org/snomedct/723453002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849928
property_value: exactMatch Orphanet:2876
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome xsd:anyURI {source="GARD:0004465"}

[Term]
id: MONDO:0009860
name: phenformin 4-hydroxylation
synonym: "phenformin 4-hydroxylation" EXACT [OMIM:261590]
xref: OMIM:261590 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849927
property_value: exactMatch http://identifiers.org/omim/261590

[Term]
id: MONDO:0009861
name: phenylketonuria
def: "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." [Orphanet:716]
subset: clingen
subset: ordo_disease {source="Orphanet:716"}
synonym: "classical phenylketonuria" EXACT []
synonym: "Folling disease" RELATED [OMIM:261600]
synonym: "Folling's disease" EXACT [DOID:9281]
synonym: "folling's syndrome" RELATED []
synonym: "Følling's disease" EXACT [DOID:9281]
synonym: "HPA, non-PKU mild" RELATED [OMIM:261600]
synonym: "hyperphenylalaninemia, non-PKU mild" RELATED [OMIM:261600]
synonym: "imbecilitus phenylpyruvica" RELATED []
synonym: "maternal phenylketonuria" EXACT EXCLUDE [DOID:9281]
synonym: "oligophrenia Phenylpyruvica" RELATED [OMIM:261600]
synonym: "oligophrenia phenylpyruvica" RELATED []
synonym: "PAH deficiency" EXACT [Orphanet:716]
synonym: "Pah deficiency" RELATED [OMIM:261600]
synonym: "pah deficiency" RELATED []
synonym: "phenylalanine hydroxylase deficiency" EXACT [OMIM:261600, Orphanet:716]
synonym: "phenylalaninemia" EXACT [CSP2005:1849-1177, DOID:9281]
synonym: "phenylketonuria" EXACT [MONDO:Lexical, OMIM:261600]
synonym: "phenylketonuria, maternal" RELATED [OMIM:261600]
synonym: "phenylketonuria; PKU" RELATED [OMIM:261600]
synonym: "phenylpyruvic oligophrenia" RELATED []
synonym: "PKU" EXACT [DOID:9281, MONDO:Lexical, MTHICD9_2006:270.1, OMIM:261600, Orphanet:716]
xref: DOID:9281 {source="MONDO:equivalentTo"}
xref: GARD:0007383 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.0 {source="ORDO:716/attributed", source="ORDO:716/ntbt", source="Orphanet:716"}
xref: ICD10:E70.1 {source="ORDO:716/attributed", source="ORDO:716/ntbt", source="Orphanet:716"}
xref: ICD9:270.1 {source="DOID:9281"}
xref: MedDRA:10034872 {source="ORDO:716/e", source="Orphanet:716"}
xref: MESH:D010661 {source="DOID:9281", source="ORDO:716/e", source="MONDO:equivalentTo", source="Orphanet:716"}
xref: NCIT:C81315 {source="MONDO:kboom-pr-0.91/0.77/0.63", source="DOID:9281", source="MONDO:equivalentTo"}
xref: OMIM:261600 {source="DOID:9281", source="ORDO:716/e", source="MONDO:equivalentTo", source="Orphanet:716"}
xref: Orphanet:716 {source="OMIM:261600", source="MONDO:equivalentTo"}
xref: SCTID:7573000 {source="MONDO:equivalentTo"}
xref: UMLS:C0031485 {source="DOID:9281", source="ORDO:716/e", source="NCBI:mim2gene_medline", source="NCIT:C81315", source="MONDO:equivalentTo", source="Orphanet:716"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0016399 {source="Orphanet:716"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0017306 {source="Orphanet:716", source="linkedlifedata/inferred"} ! disorder of phenylalanine metabolism
is_a: MONDO:0019058 {source="Orphanet:716"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: closeMatch http://identifiers.org/mesh/D017042
property_value: closeMatch http://identifiers.org/snomedct/154735006
property_value: closeMatch http://identifiers.org/snomedct/190687004
property_value: closeMatch http://identifiers.org/snomedct/297225000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678416
property_value: exactMatch DOID:9281
property_value: exactMatch http://identifiers.org/meddra/10034872
property_value: exactMatch http://identifiers.org/mesh/D010661
property_value: exactMatch http://identifiers.org/omim/261600
property_value: exactMatch http://identifiers.org/snomedct/7573000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031485
property_value: exactMatch NCIT:C81315
property_value: exactMatch Orphanet:716

[Term]
id: MONDO:0009862
name: dihydropteridine reductase deficiency
def: "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." [Orphanet:226]
subset: gard_rare {source="GARD:0004319"}
subset: ordo_clinical_subtype {source="Orphanet:226"}
synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern]
synonym: "DHPR deficiency" RELATED [OMIM:261630]
synonym: "dihydropteridine reductase deficiency" EXACT [OMIM:261630]
synonym: "disorder of 6,7-dihydropteridine reductase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of 6,7-dihydropteridine reductase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "HPABH4C" RELATED [MONDO:Lexical, OMIM:261630]
synonym: "hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [Orphanet:226]
synonym: "hyperphenylalaninemia, BH-4-deficient, C" RELATED [GARD:0004319]
synonym: "hyperphenylalaninemia, BH4-deficient C" EXACT [NCIT:C138173]
synonym: "hyperphenylalaninemia, BH4-deficient, C" RELATED [MONDO:Lexical, OMIM:261630]
synonym: "hyperphenylalaninemia, BH4-deficient, C; HPABH4C" RELATED [OMIM:261630]
synonym: "hyperphenylalaninemia, Bh4-deficient, type C" EXACT [MONDORULE:1, OMIM:261630]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency" RELATED [OMIM:261630]
synonym: "phenylketonuria type 2" EXACT [Orphanet:226]
synonym: "PKU type 2" EXACT [Orphanet:226]
synonym: "Qdpr deficiency" RELATED [OMIM:261630]
synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630]
xref: GARD:0004319 {source="MONDO:equivalentTo"}
xref: ICD10:E70.1 {source="Orphanet:226", source="ORDO:226/attributed", source="ORDO:226/ntbt"}
xref: NCIT:C138173 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="ORDO:226/e"}
xref: Orphanet:226 {source="MONDO:equivalentTo", source="OMIM:261630"}
xref: SCTID:58256000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016543 {source="DC-OMIM:261630", source="MONDOLEX:0009862", source="Orphanet:226", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045014 ! tetrahydrobiopterin metabolic process disease
property_value: exactMatch http://identifiers.org/mesh/C537896
property_value: exactMatch http://identifiers.org/omim/261630
property_value: exactMatch http://identifiers.org/snomedct/58256000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936906
property_value: exactMatch NCIT:C138173
property_value: exactMatch Orphanet:226
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency xsd:anyURI {source="GARD:0004319"}

[Term]
id: MONDO:0009863
name: BH4-deficient hyperphenylalaninemia A
def: "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." [NCIT:C138171]
subset: ordo_clinical_subtype {source="Orphanet:13"}
synonym: "6-pyruvoyl tetrahydropterin synthase deficiency" EXACT [NCIT:C138171]
synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106]
synonym: "Bh4-deficient hyperphenylalaninemia type A" EXACT [DOID:0090106, MONDORULE:1]
synonym: "HPABH4A" EXACT [DOID:0090106, MONDO:Lexical, OMIM:261640]
synonym: "hyperphenylalanemia, BH4-deficient, A" RELATED [GARD:0005682]
synonym: "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency" RELATED [GARD:0005682]
synonym: "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [DOID:0090106, Orphanet:13]
synonym: "hyperphenylalaninemia, BH4-deficient A" EXACT [NCIT:C138171]
synonym: "hyperphenylalaninemia, BH4-deficient, A" RELATED [MESH:C535325, MONDO:Lexical, OMIM:261640]
synonym: "hyperphenylalaninemia, BH4-deficient, A; HPABH4A" RELATED [OMIM:261640]
synonym: "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" RELATED [OMIM:261640]
synonym: "hyperphenylalaninemia, BH4-deficient, type A" RELATED [MESH:C535325]
synonym: "hyperphenylalaninemia, Bh4-deficient, type a" EXACT [MONDORULE:1, OMIM:261640]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency" RELATED [MESH:C535325, OMIM:261640]
synonym: "PTS deficiency" EXACT [DOID:0090106, MESH:C535325, OMIM:261640]
synonym: "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" RELATED [MESH:C535325]
synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [DOID:0090106]
xref: DOID:0090106 {source="MONDO:equivalentTo"}
xref: GARD:0005682 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:5682 {source="DOID:0090106"}
xref: ICD10:E70.1 {source="Orphanet:13", source="ORDO:13/attributed", source="ORDO:13/ntbt", source="DOID:0090106"}
xref: MESH:C535325 {source="ORDO:13/e", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106"}
xref: NCIT:C138171 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:261640 {source="ORDO:13/e", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="MEDIC:C535325"}
xref: Orphanet:13 {source="MONDO:equivalentTo", source="DOID:0090106", source="OMIM:261640"}
xref: SCTID:237914002 {source="MONDO:equivalentTo"}
xref: UMLS:C0878676 {source="ORDO:13/e", source="NCBI:mim2gene_medline", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="MEDGEN:kboom-pr92-c96", source="OMIM:261640"}
is_a: MONDO:0016543 {source="DC-OMIM:261640", source="MONDOLEX:0009863", source="Orphanet:13"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678415
property_value: exactMatch DOID:0090106
property_value: exactMatch http://identifiers.org/mesh/C535325
property_value: exactMatch http://identifiers.org/omim/261640
property_value: exactMatch http://identifiers.org/snomedct/237914002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878676
property_value: exactMatch NCIT:C138171
property_value: exactMatch Orphanet:13

[Term]
id: MONDO:0009864
name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial
synonym: "PCK2 deficiency" RELATED [OMIM:261650]
synonym: "PCKDM" RELATED [OMIM:261650]
synonym: "PEPCK 2 deficiency" RELATED [GARD:0004279]
synonym: "PEPCK2" RELATED [GARD:0004279]
synonym: "PEPCK2 deficiency" RELATED [OMIM:261650]
synonym: "phosphoenolpyruvate carboxykinase 2 deficiency" RELATED [GARD:0004279]
synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" EXACT [OMIM:261650]
synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial; PCKDM" RELATED [OMIM:261650]
xref: GARD:0004279 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564890 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261650 {source="MONDO:equivalentTo"}
xref: Orphanet:79317 {source="MONDO:obsoleteEquivalent", source="OMIM:261650"}
xref: UMLS:C1849821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261650"}
is_a: MONDO:0017320 {source="ORDO:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency
property_value: exactMatch http://identifiers.org/mesh/C564890
property_value: exactMatch http://identifiers.org/omim/261650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849821
property_value: exactMatch Orphanet:79317

[Term]
id: MONDO:0009865
name: glycogen storage disease due to phosphoglycerate mutase deficiency
def: "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." [NCIT:C131647]
subset: ordo_disease {source="Orphanet:97234"}
synonym: "glycogen storage disease 10" RELATED [OMIM:261670]
synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2, OMIM:261670]
synonym: "glycogen storage disease X" RELATED [MONDO:Lexical, OMIM:261670]
synonym: "glycogen storage disease X; GSD10" RELATED [OMIM:261670]
synonym: "glycogenosis due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "GSD 10" RELATED [OMIM:261670]
synonym: "GSD due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "GSD type 10" EXACT [Orphanet:97234]
synonym: "GSD10" RELATED [MONDO:Lexical, OMIM:261670]
synonym: "GSDX" RELATED [GARD:0009964]
synonym: "muscle phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "myopathy due to Phosphoglycerate mutase deficiency" RELATED [OMIM:261670]
synonym: "myopathy due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "PGAM deficiency" RELATED [GARD:0009964]
synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PGAMM deficiency" RELATED [OMIM:261670]
synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964]
synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670]
xref: GARD:0009964 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:97234", source="ORDO:97234/attributed", source="ORDO:97234/ntbt"}
xref: MESH:C536176 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131647 {source="MONDO:equivalentTo"}
xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source="ORDO:97234/e"}
xref: Orphanet:97234 {source="MONDO:equivalentTo", source="OMIM:261670"}
xref: SCTID:61772003 {source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="Orphanet:97234"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:97234"} ! muscular glycogenosis
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268149
property_value: exactMatch http://identifiers.org/mesh/C536176
property_value: exactMatch http://identifiers.org/omim/261670
property_value: exactMatch http://identifiers.org/snomedct/61772003
property_value: exactMatch NCIT:C131647
property_value: exactMatch Orphanet:97234

[Term]
id: MONDO:0009866
name: phosphoenolpyruvate carboxykinase deficiency, cytosolic
def: "PEPCK1 deficiency is a rare inborn error of metabolism disorder , characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis , the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood ( lactic acidosis ), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme , the other being the mitochondrial ( PEPCK2 )." [GARD:0004278]
subset: gard_rare
synonym: "PCK1 deficiency, cytosolic" RELATED [OMIM:261680]
synonym: "PCKDC" RELATED [OMIM:261680]
synonym: "PEP carboxykinase deficiency" RELATED [GARD:0004278]
synonym: "PEPCK 1 deficiency" RELATED [GARD:0004278]
synonym: "PEPCK deficiency, cytosolic" RELATED [OMIM:261680]
synonym: "PEPCK1 deficiency" RELATED []
synonym: "phosphoenolpyruvate carboxykinase deficiency" RELATED [GARD:0004278]
synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic" EXACT [OMIM:261680]
synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic; PCKDC" RELATED [OMIM:261680]
synonym: "phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" RELATED [GARD:0004278]
synonym: "phosphoenolpyruvate carboxylase deficiency" RELATED [GARD:0004278]
synonym: "phosphopyruvate carboxylase deficiency" RELATED [GARD:0004278]
xref: GARD:0004278 {source="MONDO:equivalentTo"}
xref: OMIM:261680 {source="GARD:0004278", source="MONDO:equivalentTo"}
xref: Orphanet:79316 {source="MONDO:obsoleteEquivalent", source="OMIM:261680"}
is_a: MONDO:0017320 {source="ORDO:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849814
property_value: exactMatch http://identifiers.org/omim/261680
property_value: exactMatch Orphanet:79316

[Term]
id: MONDO:0009867
name: lethal congenital glycogen storage disease of heart
def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:439854"}
synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [Orphanet:439854]
synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854]
synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [DOID:0090101, Orphanet:439854]
synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [DOID:0090101]
synonym: "glycogen storage disease caused by mutation in PRKAG2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease of heart" RELATED [OMIM:261740]
synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:261740]
synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:261740]
synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090101 {source="MONDO:equivalentTo"}
xref: GARD:0010728 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0+ {source="DOID:0090101", source="ORDO:439854/attributed", source="ORDO:439854/ntbt", source="Orphanet:439854"}
xref: ICD10:G73.6* {source="DOID:0090101", source="ORDO:439854/attributed", source="ORDO:439854/ntbt", source="Orphanet:439854"}
xref: MESH:C564888 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261740 {source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854", source="ORDO:439854/e"}
xref: Orphanet:439854 {source="MONDO:equivalentTo", source="DOID:0090101"}
xref: UMLS:C1849813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:261740", source="Orphanet:439854"}
is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="Orphanet:439854"} ! glycogen storage disease
is_a: MONDO:0010946 ! hypertrophic cardiomyopathy 6
is_a: MONDO:0016325 {source="Orphanet:439854"} ! glycogen storage disease with hypertrophic cardiomyopathy
property_value: exactMatch DOID:0090101
property_value: exactMatch http://identifiers.org/mesh/C564888
property_value: exactMatch http://identifiers.org/omim/261740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849813
property_value: exactMatch Orphanet:439854

[Term]
id: MONDO:0009868
name: glycogen storage disease IXb
def: "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." [Orphanet:79240]
subset: ordo_disease {source="Orphanet:79240"}
synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240]
synonym: "glycogen storage disease IXb" EXACT [MONDO:Lexical, OMIM:261750]
synonym: "glycogen storage disease IXb; GSD9B" RELATED [OMIM:261750]
synonym: "glycogen storage disease type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogen storage disease type IXb" EXACT [DOID:0111041, MONDORULE:5, OMIM:261750, Orphanet:79240]
synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogenosis of liver and muscle, autosomal recessive" RELATED [OMIM:261750]
synonym: "glycogenosis type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogenosis type IXb" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD IXb" EXACT [DOID:0111041, https://www.ncbi.nlm.nih.gov/books/NBK55061/, OMIM:261750]
synonym: "GSD type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD type IXb" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD9B" EXACT [DOID:0111041, MONDO:Lexical, OMIM:261750]
synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750]
xref: DOID:0111041 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="DOID:0111041", source="ORDO:79240/attributed", source="ORDO:79240/ntbt", source="Orphanet:79240"}
xref: MESH:C563008 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261750 {source="ORDO:79240/e", source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"}
xref: Orphanet:79240 {source="DOID:0111041", source="MONDO:equivalentTo", source="OMIM:261750"}
xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="Orphanet:79240", source="OMIM:261750"}
is_a: MONDO:0016118 {source="Orphanet:79240"} ! muscular glycogenosis
is_a: MONDO:0018251 {source="DOID:0111041", source="MONDOLEX:0009868", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to phosphorylase kinase deficiency
is_a: MONDO:0020127 ! genetic peripheral neuropathy
disjoint_from: MONDO:0020693 ! glycogen storage disease due to liver phosphorylase kinase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849812
property_value: exactMatch DOID:0111041
property_value: exactMatch http://identifiers.org/mesh/C563008
property_value: exactMatch http://identifiers.org/omim/261750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0543514
property_value: exactMatch Orphanet:79240

[Term]
id: MONDO:0009869
name: isolated Pierre-Robin syndrome
def: "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." [Orphanet:718]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:718"}
synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855, OMIM:261800]
synonym: "isolated Pierre Robin sequence" EXACT [Orphanet:718]
synonym: "isolated Pierre Robin syndrome" RELATED [Orphanet:718]
synonym: "Pierre Robin sequence" RELATED [MESH:D010855, OMIM:261800]
synonym: "Pierre Robin syndrome" RELATED [MONDO:Lexical, OMIM:261800]
synonym: "Pierre Robin syndrome skeletal dysplasia polydactyly" RELATED [GARD:0004354]
synonym: "Pierre Robin syndrome; PRBNS" RELATED [OMIM:261800]
synonym: "Pierre Robin's sequence" RELATED [MESH:D010855]
synonym: "Pierre Robins sequence" RELATED [MESH:D010855]
synonym: "Pierre-Robin syndrome" RELATED [MESH:D010855]
synonym: "PRBNS" RELATED [MESH:D010855, MONDO:Lexical, OMIM:261800]
synonym: "Robin sequence" RELATED [MESH:D010855]
synonym: "Robin syndrome, Pierre" RELATED [MESH:D010855]
synonym: "sequence, Pierre Robin" RELATED [MESH:D010855]
synonym: "sequence, Pierre Robin's" RELATED [MESH:D010855]
synonym: "sequence, Robin" RELATED [MESH:D010855]
synonym: "syndrome, Pierre Robin" RELATED [MESH:D010855]
synonym: "syndrome, Pierre-Robin" RELATED [MESH:D010855]
xref: GARD:0004347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0004354 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:718/ntbt", source="Orphanet:718", source="ORDO:718/inclusion"}
xref: MESH:D010855 {source="MONDO:equivalentTo"}
xref: NCIT:C85010 {source="MONDO:equivalentTo"}
xref: OMIM:261800 {source="MONDO:equivalentTo", source="ORDO:718/e", source="Orphanet:718"}
xref: Orphanet:718 {source="OMIM:261800", source="MONDO:equivalentTo"}
xref: SCTID:4602007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:718"} ! syndromic developmental defect of the eye
is_a: MONDO:0015319 ! rare disease with Pierre Robin syndrome
is_a: MONDO:0020222 {source="Orphanet:718"} ! rare disease with glaucoma as a major feature
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85010"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031900
property_value: exactMatch http://identifiers.org/mesh/D010855
property_value: exactMatch http://identifiers.org/omim/261800
property_value: exactMatch http://identifiers.org/snomedct/4602007
property_value: exactMatch NCIT:C85010
property_value: exactMatch Orphanet:718

[Term]
id: MONDO:0009870
name: pili torti (disease)
def: "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." [Orphanet:2889]
subset: ordo_disease {source="Orphanet:2889"}
synonym: "coarse, dry, lusterless hair which breaks off easily" RELATED [GARD:0004361]
synonym: "pili torti" EXACT [MONDO:ambiguous]
synonym: "pili torti, early-onset" RELATED [OMIM:261900]
synonym: "pili torti, Ronchese type" RELATED [OMIM:261900]
synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889]
xref: GARD:0004361 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0003777 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q84.1 {source="ORDO:2889/attributed", source="ORDO:2889/ntbt", source="Orphanet:2889"}
xref: MESH:C562485 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="ORDO:2889/e"}
xref: Orphanet:2889 {source="OMIM:261900", source="MONDO:equivalentTo"}
xref: SCTID:17170005 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0019281 {source="Orphanet:2889"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C562485
property_value: exactMatch http://identifiers.org/omim/261900
property_value: exactMatch http://identifiers.org/snomedct/17170005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263491
property_value: exactMatch Orphanet:2889

[Term]
id: MONDO:0009871
name: pili torti-developmental delay-neurological abnormalities syndrome
def: "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." [Orphanet:2891]
subset: ordo_malformation_syndrome {source="Orphanet:2891"}
synonym: "pili torti and developmental delay" RELATED [OMIM:261990]
synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362]
xref: GARD:0004362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2891/e"}
xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="ORDO:2891/e"}
xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"}
xref: UMLS:C1849811 {source="Orphanet:2891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261990", source="ORDO:2891/e"}
is_a: MONDO:0019282 {source="Orphanet:2891"} ! syndromic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C537398
property_value: exactMatch http://identifiers.org/omim/261990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849811
property_value: exactMatch Orphanet:2891

[Term]
id: MONDO:0009872
name: Bjornstad syndrome
def: "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." [https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome]
subset: gard_rare {source="GARD:0000022"}
subset: ordo_disease {source="Orphanet:123"}
synonym: "Bjornstad syndrome" EXACT [MONDO:Lexical, OMIM:262000]
synonym: "Bjornstad syndrome; BJS" RELATED [OMIM:262000]
synonym: "BJS" RELATED [MONDO:Lexical, OMIM:262000]
synonym: "BJörnstad syndrome" RELATED [Orphanet:123]
synonym: "deafness and pili torti, Bjornstad type" RELATED [GARD:0000022]
synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [Orphanet:123]
synonym: "pili torti and nerve deafness" RELATED [OMIM:262000]
synonym: "pili torti-sensorineural hearing loss" RELATED [GARD:0000022]
synonym: "PTD" RELATED [OMIM:262000]
synonym: "PTND" RELATED [GARD:0000022]
xref: DOID:0050677 {source="MONDO:equivalentTo"}
xref: EFO:0002779 {source="MONDO:equivalentTo"}
xref: GARD:0000022 {source="MONDO:equivalentTo"}
xref: MESH:C537633 {source="MONDO:equivalentTo", source="ORDO:123/e", source="MONDO:ontobio", source="Orphanet:123"}
xref: OMIM:262000 {source="MONDO:equivalentTo", source="DOID:0050677", source="ORDO:123/e", source="Orphanet:123"}
xref: Orphanet:123 {source="MONDO:equivalentTo", source="OMIM:262000"}
xref: UMLS:C0266006 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262000", source="ORDO:123/e", source="Orphanet:123"}
is_a: MONDO:0006025 {source="DOID:0050677", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017718 {source="Orphanet:123"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
is_a: MONDO:0019281 {source="Orphanet:123"} ! isolated genetic hair shaft abnormality
property_value: exactMatch DOID:0050677
property_value: exactMatch http://identifiers.org/mesh/C537633
property_value: exactMatch http://identifiers.org/omim/262000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266006
property_value: exactMatch Orphanet:123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome xsd:anyURI {source="GARD:0000022"}

[Term]
id: MONDO:0009873
name: pilodental dysplasia-refractive errors syndrome
def: "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." [Orphanet:2892]
subset: ordo_malformation_syndrome {source="Orphanet:2892"}
synonym: "Euhidrotic ectodermal dysplasia" EXACT [Orphanet:2892]
synonym: "Kopysc-Barczyk-Krol syndrome" EXACT [Orphanet:2892]
synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020]
synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020]
xref: GARD:0000277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535763 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262020 {source="Orphanet:2892", source="ORDO:2892/e", source="MONDO:equivalentTo"}
xref: Orphanet:2892 {source="MONDO:equivalentTo", source="OMIM:262020"}
xref: UMLS:C1849805 {source="Orphanet:2892", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262020", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:2892"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C535763", source="MONDOLEX:0009873", source="Orphanet:2892"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535763
property_value: exactMatch http://identifiers.org/omim/262020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849805
property_value: exactMatch Orphanet:2892

[Term]
id: MONDO:0009874
name: Rabson-Mendenhall syndrome
def: "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms)." [Orphanet:769]
subset: gard_rare {source="GARD:0000226"}
subset: ordo_malformation_syndrome {source="Orphanet:769"}
synonym: "Mendenhall syndrome" RELATED [OMIM:262190]
synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190]
synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190]
xref: GARD:0000226 {source="MONDO:equivalentTo"}
xref: ICD10:E13 {source="Orphanet:769", source="ORDO:769/attributed", source="ORDO:769/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C131000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:262190 {source="ORDO:769/e", source="MONDO:equivalentTo", source="Orphanet:769"}
xref: Orphanet:769 {source="OMIM:262190", source="MONDO:equivalentTo"}
xref: SCTID:33559001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0271695 {source="OMIM:262190", source="ORDO:769/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:769", source="NCIT:C131000"}
is_a: MONDO:0002254 {source="MONDOLEX:0009874", source="NCIT:C131000"} ! syndromic disease
is_a: MONDO:0015885 {source="Orphanet:769"} ! rare insulin-resistance syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019280 {source="Orphanet:769"} ! hypertrichosis (disease)
property_value: exactMatch http://identifiers.org/mesh/D056731
property_value: exactMatch http://identifiers.org/omim/262190
property_value: exactMatch http://identifiers.org/snomedct/33559001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271695
property_value: exactMatch NCIT:C131000
property_value: exactMatch Orphanet:769
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome xsd:anyURI {source="GARD:0000226"}

[Term]
id: MONDO:0009875
name: achromatopsia 3
def: "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACHM1" EXACT [DOID:0110008]
synonym: "ACHM1 (formerly)" RELATED [GARD:0009650]
synonym: "ACHM1, formerly" RELATED [OMIM:262300]
synonym: "ACHM3" EXACT [DOID:0110008, MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia 3" EXACT [MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia 3; ACHM3" RELATED [OMIM:262300]
synonym: "achromatopsia caused by mutation in CNGB3" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 3" EXACT [DOID:0110008, MONDORULE:1, OMIM:262300]
synonym: "achromatopsia with myopia" RELATED [OMIM:262300]
synonym: "CNGB3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pingelapese blindness" EXACT EXCLUDE [DOID:0110008]
synonym: "RMCH1" EXACT [DOID:0110008]
synonym: "RMCH1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromacy 1" EXACT [DOID:0110008]
synonym: "Rod monochromacy 1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromacy 1, formerly" RELATED [OMIM:262300]
synonym: "rod monochromatism 1" EXACT [DOID:0110008, OMIM:262300]
synonym: "Rod monochromatism 1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromatism 1, formerly" RELATED [OMIM:262300]
synonym: "total colorblindness with myopia" RELATED [OMIM:262300]
xref: DOID:0110008 {source="MONDO:equivalentTo"}
xref: GARD:0009650 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:262300 {source="DOID:0110008", source="MONDO:equivalentTo"}
xref: UMLS:C1849792 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262300"}
is_a: MONDO:0018852 {source="DC-OMIM:262300", source="DOID:0110008", source="MONDO:Redundant", source="MONDOLEX:0009875"} ! achromatopsia
property_value: exactMatch DOID:0110008
property_value: exactMatch http://identifiers.org/omim/262300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849792

[Term]
id: MONDO:0009876
name: isolated growth hormone deficiency type IA
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3." [DOID:0060873, PMID:16060904, PMID:8288694]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:231662"}
synonym: "autosomal recessive isolated growth hormone deficiency" EXACT [DOID:0060873]
synonym: "congenital IGHD" RELATED [GARD:0007399]
synonym: "congenital IGHD type IA" EXACT [Orphanet:231662]
synonym: "congenital isolated GH deficiency" RELATED [GARD:0007399]
synonym: "congenital isolated GH deficiency type IA" EXACT [Orphanet:231662]
synonym: "congenital isolated growth hormone deficiency" RELATED [GARD:0007399]
synonym: "congenital isolated growth hormone deficiency type IA" EXACT [Orphanet:231662]
synonym: "Growth hormone deficiency, isolated autosomal recessive" RELATED [GARD:0007399]
synonym: "Growth hormone deficiency, isolated, autosomal recessive" RELATED [OMIM:262400]
synonym: "IGHD 1A" RELATED [OMIM:262400]
synonym: "IGHD IA" EXACT [DOID:0060873]
synonym: "IGHD1A" RELATED [GARD:0007399, MONDO:Lexical, OMIM:262400]
synonym: "ILLIG type growth hormone deficiency" RELATED [GARD:0007399]
synonym: "Illig-type Growth hormone deficiency" RELATED [OMIM:262400]
synonym: "Illig-type growth hormone deficiency" EXACT [DOID:0060873]
synonym: "isolated growth hormone deficiency type 1A" RELATED [GARD:0007399]
synonym: "isolated growth hormone deficiency type IA" EXACT [GARD:0007399]
synonym: "isolated Growth hormone deficiency, type 1A" RELATED [OMIM:262400]
synonym: "isolated growth hormone deficiency, type IA" RELATED [MONDO:Lexical, OMIM:262400]
synonym: "isolated growth hormone deficiency, type IA; IGHD1A" RELATED [OMIM:262400]
synonym: "non-acquired isolated growth hormone deficiency" RELATED [GARD:0007399]
synonym: "pituitary dwarfism 1" RELATED [GARD:0007399, OMIM:262400]
synonym: "pituitary dwarfism I" EXACT [DOID:0060873]
synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400]
synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400]
xref: DOID:0060873 {source="MONDO:equivalentTo"}
xref: GARD:0007399 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="DOID:0060873", source="Orphanet:231662", source="ORDO:231662/attributed", source="ORDO:231662/ntbt"}
xref: ICD9:259.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537404 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262400 {source="ORDO:231662/e", source="DOID:0060873", source="Orphanet:231662", source="MONDO:equivalentTo", source="GARD:0007399"}
xref: Orphanet:231662 {source="DOID:0060873", source="MONDO:equivalentTo", source="GARD:0007399", source="OMIM:262400"}
xref: SCTID:237837007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342573
property_value: exactMatch DOID:0060873
property_value: exactMatch http://identifiers.org/mesh/C537404
property_value: exactMatch http://identifiers.org/omim/262400
property_value: exactMatch http://identifiers.org/snomedct/237837007
property_value: exactMatch Orphanet:231662
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a xsd:anyURI {source="GARD:0007399"}

[Term]
id: MONDO:0009877
name: Laron syndrome
def: "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." [Orphanet:633]
subset: ordo_disease {source="Orphanet:633"}
synonym: "complete growth hormone insensitivity" EXACT [Orphanet:633]
synonym: "GH receptor deficiency" EXACT [Orphanet:633]
synonym: "growth hormone insensitivity syndrome" RELATED [OMIM:262500]
synonym: "Growth hormone receptor deficiency" EXACT [OMIM:262500, Orphanet:633]
synonym: "Laron dwarfism" RELATED [GARD:0006859]
synonym: "Laron syndrome" EXACT [OMIM:262500]
synonym: "Laron type pituitary dwarfism I" RELATED [GARD:0006859]
synonym: "Laron-type dwarfism" EXACT [Orphanet:633]
synonym: "Laron-type isolated somatotropin defect" EXACT [DOID:9521]
synonym: "pituitary dwarfism 2" RELATED [OMIM:262500]
synonym: "pituitary dwarfism II" RELATED [GARD:0006859]
synonym: "primary GH insensitivity" EXACT [Orphanet:633]
synonym: "primary GH resistance" EXACT [Orphanet:633]
synonym: "primary growth hormone insensitivity" EXACT [Orphanet:633]
synonym: "primary growth hormone resistance" EXACT [Orphanet:633]
synonym: "short stature due to growth hormone resistance" EXACT [Orphanet:633]
xref: DOID:9521 {source="MONDO:equivalentTo"}
xref: GARD:0006859 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E34.3 {source="Orphanet:633", source="ORDO:633/attributed", source="ORDO:633/ntbt", source="DOID:9521"}
xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="ORDO:633/e", source="DOID:9521"}
xref: NCIT:C130994 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.24"}
xref: OMIM:262500 {source="Orphanet:633", source="MONDO:equivalentTo", source="ORDO:633/e", source="DOID:9521"}
xref: Orphanet:633 {source="MONDO:equivalentTo", source="OMIM:262500"}
xref: SCTID:38196001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:9521"}
is_a: MONDO:0006025 {source="DOID:9521", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015892 {source="MONDOLEX:0009877", source="Orphanet:633"} ! growth hormone insensitivity syndrome
property_value: exactMatch DOID:9521
property_value: exactMatch http://identifiers.org/mesh/D046150
property_value: exactMatch http://identifiers.org/omim/262500
property_value: exactMatch http://identifiers.org/snomedct/38196001
property_value: exactMatch NCIT:C130994
property_value: exactMatch Orphanet:633

[Term]
id: MONDO:0009878
name: pituitary hormone deficiency, combined, 2
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ateliotic dwarfism with hypogonadism" RELATED [OMIM:262600]
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1" EXACT [MONDO:design_pattern]
synonym: "CPHD2" RELATED [MONDO:Lexical, OMIM:262600]
synonym: "Hanhart dwarfism" RELATED [OMIM:262600]
synonym: "panhypopituitarism" RELATED [OMIM:262600]
synonym: "pituitary dwarfism 3" RELATED [OMIM:262600]
synonym: "pituitary hormone deficiency, combined, 2" EXACT [MONDO:Lexical, OMIM:262600]
synonym: "pituitary hormone deficiency, combined, 2; CPHD2" RELATED [OMIM:262600]
synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1, OMIM:262600]
synonym: "PROP1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:262600 {source="MONDO:equivalentTo"}
xref: UMLS:C0878683 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262600"}
is_a: MONDO:0019591 {source="ORDO:90695/btnt"} ! panhypopituitarism
property_value: exactMatch http://identifiers.org/omim/262600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878683

[Term]
id: MONDO:0009879
name: short stature due to growth hormone qualitative anomaly
def: "gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." [Orphanet:629]
subset: ordo_clinical_subtype {source="Orphanet:629"}
synonym: "Biodefective Growth hormone" RELATED [OMIM:262650]
synonym: "KOWARSKI syndrome" RELATED [OMIM:262650]
synonym: "Kowarski syndrome" EXACT [Orphanet:629]
synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650]
xref: GARD:0000408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="ORDO:629/attributed", source="ORDO:629/ntbt", source="Orphanet:629"}
xref: MESH:C537505 {source="MONDO:equivalentTo"}
xref: OMIM:262650 {source="MONDO:equivalentTo", source="ORDO:629/e", source="Orphanet:629"}
xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"}
xref: UMLS:C1849779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:629", source="MEDGEN:kboom-pr92-c96", source="OMIM:262650"}
is_a: MONDO:0000050 {source="Orphanet:629"} ! isolated congenital growth hormone deficiency
property_value: exactMatch http://identifiers.org/mesh/C537505
property_value: exactMatch http://identifiers.org/omim/262650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849779
property_value: exactMatch Orphanet:629

[Term]
id: MONDO:0009880
name: short stature-pituitary and cerebellar defects-small sella turcica syndrome
def: "gene (1q25)." [Orphanet:85442]
subset: ordo_disease {source="Orphanet:85442"}
synonym: "CPHD4" RELATED [MONDO:Lexical, OMIM:262700]
synonym: "pituitary hormone deficiency, combined 4" RELATED [GARD:0010604]
synonym: "pituitary hormone deficiency, combined with or without cerebellar defects" RELATED [GARD:0010604]
synonym: "pituitary hormone deficiency, combined, 4" RELATED [MONDO:Lexical, OMIM:262700]
synonym: "pituitary hormone deficiency, combined, 4; CPHD4" RELATED [OMIM:262700]
synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1, OMIM:262700]
synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [OMIM:262700]
synonym: "short stature, pituitary and cerebellar defects and small sella turcica" RELATED [GARD:0010604]
synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700]
xref: GARD:0010604 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C567492 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="ORDO:85442/e"}
xref: Orphanet:85442 {source="OMIM:262700", source="MONDO:equivalentTo"}
xref: UMLS:C2678408 {source="OMIM:262700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="MONDOLEX:0009880", source="OMIM:262700"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0019827 {source="Orphanet:85442"} ! disease associated with non-acquired combined pituitary hormone deficiency
property_value: exactMatch http://identifiers.org/mesh/C567492
property_value: exactMatch http://identifiers.org/omim/262700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678408
property_value: exactMatch Orphanet:85442

[Term]
id: MONDO:0009881
name: pituitary dwarfism with large sella turcica
subset: gard_rare {source="GARD:0010607"}
synonym: "pituitary dwarfism with large sella turcica" EXACT [OMIM:262710]
xref: GARD:0010607 {source="MONDO:equivalentTo"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262710 {source="MONDO:equivalentTo"}
xref: SCTID:27270004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.74"}
xref: UMLS:C0271575 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262710"}
is_a: MONDO:0003847 {source="MESH:C562705/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562705
property_value: exactMatch http://identifiers.org/omim/262710
property_value: exactMatch http://identifiers.org/snomedct/27270004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271575
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica xsd:anyURI {source="GARD:0010607"}

[Term]
id: MONDO:0009882
name: plasma clot retraction factor, deficiency of
synonym: "plasma clot retraction factor, deficiency of" EXACT [OMIM:262800]
xref: MESH:C564885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262800 {source="MONDO:equivalentTo"}
xref: UMLS:C1849778 {source="OMIM:262800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564885
property_value: exactMatch http://identifiers.org/omim/262800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849778

[Term]
id: MONDO:0009883
name: alpha-2-plasmin inhibitor deficiency
def: "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." [Orphanet:79]
subset: ordo_disease {source="Orphanet:79"}
synonym: "alpha-2-plasmin inhibitor deficiency" EXACT [OMIM:262850]
synonym: "anti-plasmin deficiency, congenital" RELATED [GARD:0000731]
synonym: "antiplasmin deficiency" RELATED [OMIM:262850]
synonym: "antiplasmin deficiency, congenital" RELATED [GARD:0000731]
synonym: "antiplasmin defiency" EXACT [DOID:0060601]
synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79]
synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601]
synonym: "plasmin inhibitor deficiency" RELATED [OMIM:262850]
xref: DOID:0060601 {source="MONDO:equivalentTo"}
xref: GARD:0000731 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D68.8 {source="Orphanet:79", source="DOID:0060601", source="ORDO:79/attributed", source="ORDO:79/ntbt"}
xref: MESH:C537777 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262850 {source="ORDO:79/e", source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601"}
xref: Orphanet:79 {source="MONDO:equivalentTo", source="DOID:0060601", source="OMIM:262850"}
xref: SCTID:716746003 {source="MONDO:equivalentTo"}
xref: UMLS:C2752081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262850"}
is_a: MONDO:0019039 {source="Orphanet:79"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch DOID:0060601
property_value: exactMatch http://identifiers.org/mesh/C537777
property_value: exactMatch http://identifiers.org/omim/262850
property_value: exactMatch http://identifiers.org/snomedct/716746003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752081
property_value: exactMatch Orphanet:79

[Term]
id: MONDO:0009884
name: platelet prostacyclin receptor defect
synonym: "platelet prostacyclin receptor defect" EXACT [OMIM:262875]
synonym: "Vienna-Hietzing defect" RELATED [OMIM:262875]
xref: MESH:C564884 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262875 {source="MONDO:equivalentTo"}
xref: UMLS:C1849774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262875"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564884
property_value: exactMatch http://identifiers.org/omim/262875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849774

[Term]
id: MONDO:0009885
name: Scott syndrome
def: "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." [Orphanet:806]
subset: gard_rare {source="GARD:0004777"}
subset: ordo_disease {source="Orphanet:806"}
synonym: "BDPLT7" EXACT [DOID:0111052]
synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [DOID:0111052]
synonym: "bleeding Abnormality due to deficiency of Platelet binding of Factor 10" RELATED [OMIM:262890]
synonym: "bleeding disorder, Platelet-type, 7" RELATED [OMIM:262890]
synonym: "familial prothrombin consumption inhibitor" EXACT [DOID:0111052]
synonym: "familial prothrombin conversion defect" EXACT [DOID:0111052]
synonym: "Platelet factor X receptor deficiency" RELATED [GARD:0004777]
synonym: "platelet-type bleeding disorder 7" EXACT [DOID:0111052]
synonym: "prothrombin consumption deficiency" EXACT [DOID:0111052, OMIM:262890]
synonym: "prothrombin consumption inhibitor, familial" RELATED [OMIM:262890]
synonym: "prothrombin conversion defect, familial" RELATED [OMIM:262890]
synonym: "Scott syndrome" EXACT [MONDO:Lexical, OMIM:262890]
synonym: "Scott syndrome; SCTS" RELATED [OMIM:262890]
synonym: "SCTS" EXACT [DOID:0111052, MONDO:Lexical, OMIM:262890]
xref: DOID:0111052 {source="MONDO:equivalentTo"}
xref: GARD:0004777 {source="MONDO:equivalentTo"}
xref: ICD10:D69.8 {source="ORDO:806/attributed", source="ORDO:806/ntbt", source="DOID:0111052", source="Orphanet:806"}
xref: MESH:C563120 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262890 {source="DOID:0111052", source="MONDO:equivalentTo", source="ORDO:806/e", source="Orphanet:806"}
xref: Orphanet:806 {source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890"}
xref: SCTID:128098009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0796149 {source="NCBI:mim2gene_medline", source="DOID:0111052", source="MONDO:equivalentTo", source="ORDO:806/e", source="OMIM:262890", source="Orphanet:806"}
is_a: MONDO:0017142 {source="Orphanet:806"} ! hemorrhagic disorder due to a qualitative platelet defect
property_value: exactMatch DOID:0111052
property_value: exactMatch http://identifiers.org/mesh/C563120
property_value: exactMatch http://identifiers.org/omim/262890
property_value: exactMatch http://identifiers.org/snomedct/128098009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796149
property_value: exactMatch Orphanet:806
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome xsd:anyURI {source="GARD:0004777"}

[Term]
id: MONDO:0009886
name: pleoconial myopathy with salt craving
subset: gard_rare {source="GARD:0010318"}
synonym: "pleoconial myopathy with salt craving" EXACT [OMIM:262900]
xref: GARD:0010318 {source="MONDO:equivalentTo"}
xref: MESH:C564883 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:262900 {source="MONDO:equivalentTo"}
xref: UMLS:C1849773 {source="OMIM:262900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564883
property_value: exactMatch http://identifiers.org/omim/262900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849773
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving xsd:anyURI {source="GARD:0010318"}

[Term]
id: MONDO:0009887
name: desquamative interstitial pneumonia
def: "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." [NCIT:P378]
subset: ordo_disease {source="Orphanet:98852"}
synonym: "desquamative interstitial pneumonia" EXACT [MONDO:0020335]
synonym: "DIP" RELATED [MONDO:Lexical, OMIM:263000]
synonym: "familial desquamative interstitial pneumonitis" EXACT [DOID:0050158]
synonym: "ILD, desquamative" RELATED [OMIM:263000]
synonym: "interstitial lung disease, desquamative" RELATED [OMIM:263000]
synonym: "interstitial pneumonitis, desquamative, familial" RELATED [MONDO:Lexical, OMIM:263000]
synonym: "interstitial pneumonitis, desquamative, familial; DIP" RELATED [OMIM:263000]
synonym: "pneumonia, desquamative interstitial, familial" RELATED [OMIM:263000]
synonym: "pneumonitis, desquamative interstitial, familial" RELATED [OMIM:263000]
synonym: "RBILD" EXACT [DOID:0050158]
synonym: "respiratory bronchiolitis interstitial lung disease" EXACT [NCIT:C35288]
synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [DOID:0050158]
xref: COHD:4045227 {source="MONDO:equivalentTo"}
xref: DOID:0050158 {source="MONDO:equivalentTo"}
xref: ICD10:J84.1 {source="Orphanet:98852", source="ORDO:98852/ntbt"}
xref: ICD10:J84.115 {source="DOID:0050158"}
xref: ICD10:J84.117 {source="DOID:0050158"}
xref: ICD9:516.34 {source="DOID:0050158"}
xref: ICD9:516.37 {source="DOID:0050158"}
xref: MESH:C562470 {source="DOID:0050158", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35288 {source="DOID:0050158", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:263000 {source="DOID:0050158", source="MONDO:equivalentTo", source="ORDO:98852/btnt"}
xref: Orphanet:98852 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:263000"}
xref: SCTID:8549006 {source="DOID:0050158", source="MONDO:equivalentTo"}
xref: UMLS:C0238378 {source="Orphanet:98852", source="DOID:0050158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35288", source="OMIM:263000", source="ORDO:98852/e"}
is_a: MONDO:0002429 {source="DOID:0050158", source="NCIT:C35288", source="Orphanet:98852", source="linkedlifedata"} ! idiopathic interstitial pneumonia
property_value: exactMatch DOID:0050158
property_value: exactMatch http://identifiers.org/mesh/C562470
property_value: exactMatch http://identifiers.org/omim/263000
property_value: exactMatch http://identifiers.org/snomedct/8549006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238378
property_value: exactMatch NCIT:C35288
property_value: exactMatch Orphanet:98852

[Term]
id: MONDO:0009888
name: polycystic kidney, cataract, and congenital blindness
synonym: "polycystic kidney, cataract, and congenital blindness" EXACT [OMIM:263100]
xref: MESH:C564882 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263100 {source="MONDO:equivalentTo"}
xref: UMLS:C1849771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263100"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564882
property_value: exactMatch http://identifiers.org/omim/263100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849771

[Term]
id: MONDO:0009889
name: autosomal recessive polycystic kidney disease
def: "Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." [Orphanet:731]
subset: ordo_disease {source="Orphanet:731"}
synonym: "AR-PKD" EXACT [Orphanet:731]
synonym: "ARPKD" EXACT [DOID:0110861, MONDO:Lexical]
synonym: "autosomal recessive polycystic kidney" EXACT [NCIT:C84579]
synonym: "PKHD1" RELATED [DOID:0110861]
synonym: "polycystic kidney and hepatic disease 1" NARROW [DOID:0110861]
synonym: "polycystic kidney disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "polycystic kidney disease, autosomal recessive" RELATED [MONDO:Lexical, OMIM:263200]
synonym: "polycystic kidney disease, autosomal recessive; ARPKD" RELATED [OMIM:263200]
synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579]
synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861]
xref: DOID:0110861 {source="MONDO:equivalentTo"}
xref: GARD:0008378 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q61.1 {source="Orphanet:731", source="ORDO:731/specific", source="DOID:0110861", source="ORDO:731/e"}
xref: ICD9:753.14 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10036047 {source="Orphanet:731", source="ORDO:731/e"}
xref: NCIT:C84579 {source="MONDO:kboom-pr-0.93/0.86/0.09", source="MONDO:equivalentTo"}
xref: Orphanet:731 {source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861"}
xref: SCTID:28770003 {source="MONDO:kboom-pr-0.72/0.42/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0085548 {source="NCIT:C84579", source="Orphanet:731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861", source="ORDO:731/e"}
is_a: MONDO:0006025 {source="DOID:0110861", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018396 {source="Orphanet:731"} ! rare male fertility disorder with obstructive azoospermia
is_a: MONDO:0018409 {source="Orphanet:731"} ! rare genetic disorder with obstructive azoospermia
is_a: MONDO:0019741 {source="Orphanet:731"} ! familial cystic renal disease
is_a: MONDO:0020642 {source="NCIT:C84579"} ! polycystic kidney disease
property_value: closeMatch http://identifiers.org/mesh/D016891
property_value: exactMatch DOID:0110861
property_value: exactMatch http://identifiers.org/meddra/10036047
property_value: exactMatch http://identifiers.org/mesh/D017044
property_value: exactMatch http://identifiers.org/omim/263200
property_value: exactMatch http://identifiers.org/snomedct/28770003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085548
property_value: exactMatch NCIT:C84579
property_value: exactMatch Orphanet:731

[Term]
id: MONDO:0009890
name: Gillessen-Kaesbach-Nishimura syndrome
synonym: "GIKANIS" RELATED [OMIM:263210]
synonym: "Gillessen-Kaesbach-Nishimura syndrome; GIKANIS" RELATED [OMIM:263210]
synonym: "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210]
synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210]
xref: MESH:C564881 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263210 {source="MONDO:equivalentTo"}
xref: UMLS:C1849762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263210"}
is_a: MONDO:0012117 ! ALG9-CDG
property_value: exactMatch http://identifiers.org/mesh/C564881
property_value: exactMatch http://identifiers.org/omim/263210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849762

[Term]
id: MONDO:0009891
name: acquired polycythemia vera
def: "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." [Orphanet:729]
subset: ordo_disease {source="Orphanet:729"}
synonym: "acquired primary erythrocytosis" EXACT [Orphanet:729]
synonym: "Osler-Vaquez disease" EXACT [Orphanet:729]
synonym: "Osler-Vaquez syndrome" EXACT [DOID:8997]
synonym: "polycythaemia rubra vera" EXACT [DOID:8997]
synonym: "polycythemia rubra vera" EXACT [NCIT:C3336, OMIM:263300, Orphanet:729]
synonym: "polycythemia vera" EXACT [MONDO:Lexical, NCIT:C3336, OMIM:263300]
synonym: "polycythemia vera; PV" RELATED [OMIM:263300]
synonym: "primary polycythemia" RELATED [GARD:0007422]
synonym: "proliferative polycythaemia" EXACT [DOID:8997]
synonym: "PRV" RELATED [GARD:0007422]
synonym: "PV" EXACT [MONDO:Lexical, OMIM:263300, Orphanet:729]
synonym: "Vaquez disease" EXACT [Orphanet:729]
xref: COHD:135214 {source="MONDO:equivalentTo"}
xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"}
xref: EFO:0002429 {source="MONDO:equivalentTo"}
xref: GARD:0007422 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D45 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729"}
xref: ICD9:238.4 {source="DOID:8997", source="EFO:0002429"}
xref: ICDO:9950/3 {source="NCIT:C3336"}
xref: MedDRA:10036057 {source="ORDO:729/e", source="Orphanet:729"}
xref: MESH:D011087 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"}
xref: NCIT:C3336 {source="DOID:8997", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0002429"}
xref: OMIM:263300 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"}
xref: ONCOTREE:PV {source="MONDO:equivalentTo"}
xref: Orphanet:729 {source="MONDO:equivalentTo", source="OMIM:263300"}
xref: UMLS:C0032463 {source="DOID:8997", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:729/e", source="NCIT:C3336", source="OMIM:263300", source="Orphanet:729"}
is_a: MONDO:0005571 {source="DOID:8997", source="EFO:0002429", source="NCIT:C3336", source="Orphanet:729"} ! polycythemia (disease)
is_a: MONDO:0020703 {source="NCIT:C3336"} ! erythroid neoplasm
property_value: closeMatch http://identifiers.org/snomedct/109992005
property_value: closeMatch http://identifiers.org/snomedct/128841001
property_value: closeMatch http://identifiers.org/snomedct/134182002
property_value: closeMatch http://identifiers.org/snomedct/154644004
property_value: closeMatch http://identifiers.org/snomedct/269652000
property_value: closeMatch http://identifiers.org/snomedct/278190000
property_value: closeMatch http://identifiers.org/snomedct/31569001
property_value: exactMatch DOID:8997
property_value: exactMatch http://identifiers.org/meddra/10036057
property_value: exactMatch http://identifiers.org/mesh/D011087
property_value: exactMatch http://identifiers.org/omim/263300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032463
property_value: exactMatch NCIT:C3336
property_value: exactMatch Orphanet:729

[Term]
id: MONDO:0009892
name: Chuvash polycythemia
def: "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." [Orphanet:238557]
subset: ordo_disease {source="Orphanet:238557"}
synonym: "autosomal recessive benign erythrocytosis" EXACT [DOID:0060474]
synonym: "Chuvash erythrocytosis" RELATED [Orphanet:238557]
synonym: "Chuvash erythromatosis" EXACT [DOID:0060474]
synonym: "Chuvash polycythemia" EXACT [Orphanet:238557]
synonym: "Chuvash type polycythemia" EXACT [DOID:0060474]
synonym: "ECYT2" RELATED [MONDO:Lexical, OMIM:263400]
synonym: "erythrocytosis, autosomal recessive benign" RELATED [OMIM:263400]
synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:263400]
synonym: "erythrocytosis, familial, 2; ECYT2" RELATED [OMIM:263400]
synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:263400]
synonym: "familial erythrocytosis 2" EXACT [DOID:0060474]
synonym: "familial polycythemia caused by mutation in VHL" EXACT [MONDO:design_pattern]
synonym: "polycythemia, Chuvash type" RELATED [OMIM:263400]
synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400]
synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557]
xref: DOID:0060474 {source="MONDO:equivalentTo"}
xref: ICD10:D75.1 {source="DOID:0060474", source="Orphanet:238557", source="ORDO:238557/attributed", source="ORDO:238557/ntbt"}
xref: MESH:C563918 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263400 {source="ORDO:238557/e", source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo"}
xref: Orphanet:238557 {source="DOID:0060474", source="MONDO:equivalentTo", source="OMIM:263400"}
xref: UMLS:C1837915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263400"}
is_a: MONDO:0001115 {source="DC-OMIM:263400", source="DOID:0060474", source="MONDO:Redundant", source="MONDOLEX:0009892", source="OMIM:263400"} ! familial polycythemia
is_a: MONDO:0016540 {source="Orphanet:238557"} ! congenital secondary polycythemia
property_value: exactMatch DOID:0060474
property_value: exactMatch http://identifiers.org/mesh/C563918
property_value: exactMatch http://identifiers.org/omim/263400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837915
property_value: exactMatch Orphanet:238557

[Term]
id: MONDO:0009893
name: polydactyly, postaxial, type A5
synonym: "PAPA5" RELATED [MONDO:Lexical, OMIM:263450]
synonym: "polydactyly, postaxial, type A5" EXACT [MONDO:Lexical, OMIM:263450]
synonym: "polydactyly, postaxial, type A5; PAPA5" RELATED [OMIM:263450]
xref: OMIM:263450 {source="MONDO:equivalentTo"}
xref: UMLS:C3550661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263450"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/omim/263450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550661

[Term]
id: MONDO:0009894
name: short-rib thoracic dysplasia 6 with or without polydactyly
def: "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." [NCIT:C122654]
synonym: "Majewski syndrome" EXACT [DOID:0110092, OMIM:263520]
synonym: "polydactyly with neonatal chondrodystrophy type II" EXACT [NCIT:C122654]
synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [OMIM:263520]
synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [DOID:0110092]
synonym: "short rib-polydactyly syndrome type II" EXACT [NCIT:C122654]
synonym: "short rib-polydactyly syndrome type IIA" EXACT [DOID:0110092]
synonym: "short rib-polydactyly syndrome, type 2" RELATED [OMIM:263520]
synonym: "short rib-polydactyly syndrome, type 2A" RELATED [OMIM:263520]
synonym: "short-rib thoracic dysplasia 6 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:263520]
synonym: "short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6" RELATED [OMIM:263520]
synonym: "Srps, type 2" RELATED [OMIM:263520]
synonym: "SRPS2A" EXACT [DOID:0110092]
synonym: "SRTD6" EXACT [DOID:0110092, MONDO:Lexical, OMIM:263520]
xref: DOID:0110092 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110092"}
xref: NCIT:C122654 {source="MONDO:kboom-pr-0.93/0.86/0.07", source="MONDO:equivalentTo"}
xref: OMIM:263520 {source="DOID:0110092", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110092", source="OMIM:263520"} ! Jeune syndrome
is_a: MONDO:0019662 {source="ORDO:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024507
property_value: exactMatch DOID:0110092
property_value: exactMatch http://identifiers.org/omim/263520
property_value: exactMatch NCIT:C122654

[Term]
id: MONDO:0009895
name: postaxial polydactyly-dental and vertebral anomalies syndrome
def: "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." [Orphanet:2916]
subset: ordo_malformation_syndrome {source="Orphanet:2916"}
synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540]
xref: ICD10:Q87.2 {source="ORDO:2916/attributed", source="ORDO:2916/ntbt", source="Orphanet:2916"}
xref: MESH:C564880 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263540 {source="MONDO:equivalentTo", source="ORDO:2916/e", source="Orphanet:2916"}
xref: Orphanet:2916 {source="MONDO:equivalentTo", source="OMIM:263540"}
xref: UMLS:C1849732 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263540", source="Orphanet:2916"}
is_a: MONDO:0015336 {source="Orphanet:2916"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C564880
property_value: exactMatch http://identifiers.org/omim/263540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849732
property_value: exactMatch Orphanet:2916

[Term]
id: MONDO:0009896
name: polymyoclonus, infantile
synonym: "polymyoclonus, infantile" EXACT [OMIM:263550]
xref: MESH:C535524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263550 {source="MONDO:equivalentTo"}
xref: UMLS:C1849731 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263550"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535524
property_value: exactMatch http://identifiers.org/omim/263550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849731

[Term]
id: MONDO:0009897
name: adult polyglucosan body disease
def: "adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." [Orphanet:206583]
subset: gard_rare {source="GARD:0000108"}
subset: ordo_clinical_subtype {source="Orphanet:206583"}
synonym: "APBD" EXACT [Orphanet:206583]
synonym: "APBN" RELATED [MONDO:Lexical, OMIM:263570]
synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108]
synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570]
synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570]
synonym: "polyglucosan body neuropathy, adult form; APBN" RELATED [OMIM:263570]
xref: GARD:0000108 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:206583/attributed", source="ORDO:206583/ntbt", source="Orphanet:206583"}
xref: MESH:C564878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263570 {source="MONDO:equivalentTo", source="ORDO:206583/e", source="Orphanet:206583"}
xref: Orphanet:206583 {source="MONDO:equivalentTo", source="OMIM:263570"}
xref: SCTID:721099001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0009292 {source="Orphanet:206583"} ! glycogen storage disease due to glycogen branching enzyme deficiency
is_a: MONDO:0016133 {source="Orphanet:206583"} ! rare hereditary metabolic disease with peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849722
property_value: exactMatch http://identifiers.org/mesh/C564878
property_value: exactMatch http://identifiers.org/omim/263570
property_value: exactMatch http://identifiers.org/snomedct/721099001
property_value: exactMatch Orphanet:206583
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult xsd:anyURI {source="GARD:0000108"}

[Term]
id: MONDO:0009898
name: polysaccharide, storage of unusual
synonym: "polysaccharide, storage of unusual" EXACT [OMIM:263600]
xref: MESH:C564877 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564877/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849721
property_value: exactMatch http://identifiers.org/mesh/C564877
property_value: exactMatch http://identifiers.org/omim/263600

[Term]
id: MONDO:0009899
name: polyhydramnios, chronic idiopathic
synonym: "Lactogen receptor defect of chorion" RELATED [OMIM:263610]
synonym: "polyhydramnios, chronic idiopathic" EXACT [OMIM:263610]
xref: MESH:C564876 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263610 {source="MONDO:equivalentTo"}
xref: UMLS:C1849720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263610"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564876
property_value: exactMatch http://identifiers.org/omim/263610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849720

[Term]
id: MONDO:0009900
name: polysyndactyly-cardiac malformation syndrome
def: "facial dysmorphism, hepatic cysts)." [Orphanet:2934]
subset: ordo_malformation_syndrome {source="Orphanet:2934"}
synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934]
synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428]
synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630]
xref: GARD:0004428 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2934/attributed", source="ORDO:2934/ntbt", source="Orphanet:2934"}
xref: MESH:C564875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263630 {source="MONDO:equivalentTo", source="ORDO:2934/e", source="Orphanet:2934"}
xref: Orphanet:2934 {source="MONDO:equivalentTo", source="OMIM:263630"}
xref: SCTID:724066002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263630", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2934"}
is_a: MONDO:0043008 {source="Orphanet:2934"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564875
property_value: exactMatch http://identifiers.org/omim/263630
property_value: exactMatch http://identifiers.org/snomedct/724066002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849719
property_value: exactMatch Orphanet:2934

[Term]
id: MONDO:0009901
name: Bartsocas-Papas syndrome
def: "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." [Orphanet:1234]
subset: ordo_malformation_syndrome {source="Orphanet:1234"}
synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [Orphanet:1234]
synonym: "Bartsocas Papas syndrome" RELATED [GARD:0004436]
synonym: "Bartsocas-Papas syndrome" EXACT [OMIM:263650]
synonym: "BPS" RELATED [GARD:0004436]
synonym: "lethal popliteal pterygium syndrome" EXACT [Orphanet:1234]
synonym: "multiple pterygium syndrome, Aslan type" RELATED [OMIM:263650]
synonym: "popliteal pterygium syndrome lethal type" RELATED [GARD:0004436]
synonym: "popliteal pterygium syndrome, Bartsocas-Papas type" RELATED [GARD:0004436]
synonym: "popliteal pterygium syndrome, lethal type" RELATED [OMIM:263650]
synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436]
synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650]
xref: GARD:0004436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:1234", source="ORDO:1234/attributed", source="ORDO:1234/ntbt"}
xref: MESH:C564874 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263650 {source="ORDO:1234/e", source="Orphanet:1234", source="MONDO:equivalentTo"}
xref: Orphanet:1234 {source="MONDO:equivalentTo", source="OMIM:263650"}
xref: SCTID:722376008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1849718 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:1234", source="MONDO:equivalentTo", source="OMIM:263650"}
is_a: MONDO:0017435 {source="DC-OMIM:263650", source="Orphanet:1234", source="linkedlifedata"} ! popliteal pterygium syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019287 {source="Orphanet:1234", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:1234"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564874
property_value: exactMatch http://identifiers.org/omim/263650
property_value: exactMatch http://identifiers.org/snomedct/722376008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849718
property_value: exactMatch Orphanet:1234

[Term]
id: MONDO:0009902
name: cutaneous porphyria
def: "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." [Orphanet:79277]
subset: ordo_disease {source="Orphanet:79277"}
synonym: "CEP" EXACT [Orphanet:79277]
synonym: "Cep" RELATED [OMIM:263700]
synonym: "congenital erythropoietic porphyria" RELATED [Orphanet:79277]
synonym: "congenital porphyria" RELATED [GARD:0004446]
synonym: "erythropoietic porphyria" EXACT [DOID:13271]
synonym: "Gunther disease" RELATED [OMIM:263700]
synonym: "Günther disease" EXACT [Orphanet:79277]
synonym: "porphyria, congenital erythropoietic" RELATED [OMIM:263700]
synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [OMIM:263700]
synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446]
synonym: "Uros deficiency" RELATED [OMIM:263700]
xref: DOID:13271 {source="MONDO:equivalentTo"}
xref: GARD:0004446 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E80.0 {source="ORDO:79277/inclusion", source="ORDO:79277/ntbt", source="DOID:13271", source="Orphanet:79277"}
xref: MESH:D017092 {source="DOID:13271", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84697 {source="DOID:13271", source="MONDO:equivalentTo"}
xref: OMIM:263700 {source="DOID:13271", source="MONDO:equivalentTo", source="ORDO:79277/e", source="Orphanet:79277"}
xref: Orphanet:79277 {source="MONDO:equivalentTo", source="OMIM:263700"}
xref: SCTID:67312003 {source="DOID:13271", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.74/0.38"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="MONDOLEX:0009902", source="NCIT:C84697", source="Orphanet:79277"} ! inherited porphyria
is_a: MONDO:0020104 {source="Orphanet:79277"} ! rare constitutional hemolytic anemia due to an enzyme disorder
property_value: closeMatch http://identifiers.org/snomedct/190913009
property_value: closeMatch http://identifiers.org/snomedct/22935002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162530
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2718078
property_value: exactMatch DOID:13271
property_value: exactMatch http://identifiers.org/mesh/D017092
property_value: exactMatch http://identifiers.org/omim/263700
property_value: exactMatch http://identifiers.org/snomedct/67312003
property_value: exactMatch NCIT:C84697
property_value: exactMatch Orphanet:79277

[Term]
id: MONDO:0009903
name: postaxial acrofacial dysostosis
def: "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." [Orphanet:246]
subset: ordo_malformation_syndrome {source="Orphanet:246"}
synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [Orphanet:246]
synonym: "Genee-Wiedemann acrofacial dysostosis" RELATED [GARD:0008410]
synonym: "Genee-Wiedemann syndrome" RELATED [OMIM:263750]
synonym: "GWAFD" RELATED [GARD:0008410]
synonym: "Mandibulfacial dysostosis with postaxial limb anomalies" EXACT [Orphanet:246]
synonym: "Miller syndrome" EXACT [OMIM:263750, Orphanet:246]
synonym: "POADS" EXACT [MONDO:Lexical, OMIM:263750, Orphanet:246]
synonym: "POADS syndrome" RELATED [GARD:0008410]
synonym: "postaxial acrodysostosis" EXACT [Orphanet:246]
synonym: "postaxial acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:263750]
synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:0008410]
synonym: "postaxial acrofacial dysostosis; POADS" RELATED [OMIM:263750]
synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410]
xref: GARD:0008410 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.4 {source="Orphanet:246", source="ORDO:246/attributed", source="ORDO:246/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537680 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="ORDO:246/e"}
xref: Orphanet:246 {source="MONDO:equivalentTo", source="OMIM:263750"}
xref: SCTID:66038001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265257 {source="Orphanet:246", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263750"}
is_a: MONDO:0015218 {source="Orphanet:246"} ! syndromic developmental defect of the eye
is_a: MONDO:0015334 {source="Orphanet:246"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015501 {source="Orphanet:246"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018237 {source="Orphanet:246"} ! acrofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020157 {source="Orphanet:246"} ! syndromic palpebral coloboma
is_a: MONDO:0020162 {source="Orphanet:246"} ! secondary ectropion
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:246"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537680
property_value: exactMatch http://identifiers.org/omim/263750
property_value: exactMatch http://identifiers.org/snomedct/66038001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265257
property_value: exactMatch Orphanet:246

[Term]
id: MONDO:0009904
name: Gitelman syndrome
def: "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." [Orphanet:358]
subset: gard_rare {source="GARD:0008547"}
subset: ordo_disease {source="Orphanet:358"}
synonym: "familial hypokalemia-hypomagnesemia" RELATED [GARD:0008547]
synonym: "Gitelman syndrome" EXACT [OMIM:263800]
synonym: "Gitelman syndrome; GTLMNS" RELATED [OMIM:263800]
synonym: "Gitelman's syndrome" RELATED [GARD:0008547]
synonym: "GTLMNS" RELATED [OMIM:263800]
synonym: "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" EXACT [DOID:0050450, OMIM:263800]
synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800]
synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358]
xref: DOID:0050450 {source="MONDO:equivalentTo"}
xref: GARD:0008547 {source="MONDO:equivalentTo"}
xref: ICD10:N15.8 {source="Orphanet:358", source="ORDO:358/attributed", source="ORDO:358/ntbt"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062906 {source="Orphanet:358", source="ORDO:358/e"}
xref: MESH:D053579 {source="Orphanet:358", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0050450", source="ORDO:358/e"}
xref: NCIT:C84730 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050450"}
xref: OMIM:263800 {source="Orphanet:358", source="MONDO:equivalentTo", source="DOID:0050450", source="ORDO:358/e"}
xref: Orphanet:358 {source="OMIM:263800", source="MONDO:equivalentTo"}
xref: SCTID:707756004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.48", source="DOID:0050450"}
xref: UMLS:C0268450 {source="OMIM:263800", source="Orphanet:358", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050450", source="ORDO:358/e", source="NCIT:C84730"}
is_a: MONDO:0002254 {source="MONDOLEX:0009904", source="NCIT:C84730"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:0050450", source="MESH:D053579"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:358"} ! inherited renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/3188003
property_value: exactMatch DOID:0050450
property_value: exactMatch http://identifiers.org/meddra/10062906
property_value: exactMatch http://identifiers.org/mesh/D053579
property_value: exactMatch http://identifiers.org/omim/263800
property_value: exactMatch http://identifiers.org/snomedct/707756004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268450
property_value: exactMatch NCIT:C84730
property_value: exactMatch Orphanet:358
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome xsd:anyURI {source="GARD:0008547"}

[Term]
id: MONDO:0009905
name: urban-Rogers-Meyer syndrome
def: "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." [Orphanet:3409]
subset: ordo_malformation_syndrome {source="Orphanet:3409"}
synonym: "intellectual disability-short stature-hand contractures-genital anomalies syndrome" EXACT [Orphanet:3409]
synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264010]
synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409]
synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010]
xref: GARD:0005426 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3409/attributed", source="ORDO:3409/ntbt", source="Orphanet:3409"}
xref: MESH:C538276 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264010 {source="MONDO:equivalentTo", source="ORDO:3409/e", source="Orphanet:3409"}
xref: Orphanet:3409 {source="MONDO:equivalentTo", source="OMIM:264010"}
xref: SCTID:716334004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0796189 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264010", source="Orphanet:3409"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3409", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538276
property_value: exactMatch http://identifiers.org/omim/264010
property_value: exactMatch http://identifiers.org/snomedct/716334004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796189
property_value: exactMatch Orphanet:3409

[Term]
id: MONDO:0009906
name: prenatal bowing
synonym: "prenatal bowing" EXACT [OMIM:264050]
xref: MESH:C564873 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264050 {source="MONDO:equivalentTo"}
is_a: MONDO:0008882 {source="ORDO:2292/btnt"} ! congenital bowing of long bones
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849701
property_value: exactMatch http://identifiers.org/mesh/C564873
property_value: exactMatch http://identifiers.org/omim/264050

[Term]
id: MONDO:0009907
name: Prepapillary vascular loops
synonym: "Prepapillary vascular loops" EXACT [OMIM:264060]
synonym: "preretinal vascular loops" RELATED [OMIM:264060]
xref: MESH:C563287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264060 {source="MONDO:equivalentTo"}
xref: SCTID:424728002 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1828066
property_value: exactMatch http://identifiers.org/mesh/C563287
property_value: exactMatch http://identifiers.org/omim/264060
property_value: exactMatch http://identifiers.org/snomedct/424728002

[Term]
id: MONDO:0009908
name: dehydratase deficiency
def: "Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner." [Orphanet:1578]
subset: ordo_clinical_subtype {source="Orphanet:1578"}
synonym: "CADH deficiency" EXACT [OMIM:264070, Orphanet:1578]
synonym: "HPABH4D" RELATED [MONDO:Lexical, OMIM:264070]
synonym: "hyperphenylalaninemia due to dehydratase deficiency" EXACT [Orphanet:1578]
synonym: "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [Orphanet:1578]
synonym: "hyperphenylalaninemia with primapterinuria" EXACT [OMIM:264070, Orphanet:1578]
synonym: "hyperphenylalaninemia, BH4-deficient, D" RELATED [MONDO:Lexical, OMIM:264070]
synonym: "hyperphenylalaninemia, BH4-deficient, D; HPABH4D" RELATED [OMIM:264070]
synonym: "hyperphenylalaninemia, Bh4-deficient, type D" EXACT [MONDORULE:1, OMIM:264070]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency" RELATED [OMIM:264070]
synonym: "PCBD deficiency" EXACT [OMIM:264070, Orphanet:1578]
synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578]
synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843]
xref: GARD:0002843 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.1 {source="ORDO:1578/attributed", source="ORDO:1578/ntbt", source="Orphanet:1578"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538382 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264070 {source="MONDO:equivalentTo", source="Orphanet:1578", source="ORDO:1578/e"}
xref: Orphanet:1578 {source="OMIM:264070", source="MONDO:equivalentTo"}
xref: SCTID:124646004 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0016543 {source="DC-OMIM:264070", source="MONDOLEX:0009908", source="Orphanet:1578"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849700
property_value: exactMatch http://identifiers.org/mesh/C538382
property_value: exactMatch http://identifiers.org/omim/264070
property_value: exactMatch http://identifiers.org/snomedct/124646004
property_value: exactMatch Orphanet:1578

[Term]
id: MONDO:0009909
name: progesterone resistance
synonym: "progesterone resistance" EXACT [OMIM:264080]
synonym: "pseudocorpus luteum insufficiency" RELATED [OMIM:264080]
xref: MESH:C564871 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264080 {source="MONDO:equivalentTo"}
xref: UMLS:C1849699 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264080"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564871
property_value: exactMatch http://identifiers.org/omim/264080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849699

[Term]
id: MONDO:0009910
name: Wiedemann-Rautenstrauch syndrome
def: "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." [Orphanet:3455]
subset: ordo_malformation_syndrome {source="Orphanet:3455"}
synonym: "neonatal progeroid syndrome" EXACT [Orphanet:3455]
synonym: "progeroid syndrome neonatal" RELATED [GARD:0000330]
synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090]
synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330]
synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090]
xref: GARD:0000330 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E34.8 {source="Orphanet:3455", source="ORDO:3455/attributed", source="ORDO:3455/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536423 {source="Orphanet:3455", source="ORDO:3455/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C121565 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:264090 {source="Orphanet:3455", source="ORDO:3455/e", source="MONDO:equivalentTo"}
xref: Orphanet:3455 {source="MONDO:equivalentTo", source="OMIM:264090"}
xref: SCTID:238874008 {source="MONDO:kboom-pr-1.00/0.79/7.65", source="MONDO:equivalentTo"}
xref: UMLS:C0406586 {source="Orphanet:3455", source="ORDO:3455/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C121565", source="OMIM:264090"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3455", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3455"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:3455"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020087 {source="Orphanet:3455"} ! genetic lipodystrophy
is_a: MONDO:0020162 {source="Orphanet:3455"} ! secondary ectropion
is_a: MONDO:0020732 {source="OMIMPS"} ! progeria
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536423
property_value: exactMatch http://identifiers.org/omim/264090
property_value: exactMatch http://identifiers.org/snomedct/238874008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406586
property_value: exactMatch NCIT:C121565
property_value: exactMatch Orphanet:3455

[Term]
id: MONDO:0009911
name: prolactin deficiency, isolated
synonym: "prolactin deficiency, isolated" EXACT [OMIM:264110]
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264110 {source="MONDO:equivalentTo"}
xref: SCTID:67873006 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C562708"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271586
property_value: exactMatch http://identifiers.org/mesh/C562708
property_value: exactMatch http://identifiers.org/omim/264110
property_value: exactMatch http://identifiers.org/snomedct/67873006

[Term]
id: MONDO:0009912
name: prolactin deficiency with obesity and enlarged testes
synonym: "PRL deficiency with obesity and enlarged testes" RELATED [OMIM:264120]
synonym: "prolactin deficiency with obesity and enlarged testes" EXACT [OMIM:264120]
xref: MESH:C564870 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264120 {source="MONDO:equivalentTo"}
xref: UMLS:C1849698 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264120"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564870
property_value: exactMatch http://identifiers.org/omim/264120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849698

[Term]
id: MONDO:0009913
name: prune belly syndrome with pulmonic stenosis, mental retardation, and deafness
synonym: "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" EXACT [OMIM:264140]
xref: MESH:C562894 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264140 {source="MONDO:equivalentTo"}
xref: SCTID:236529001 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C0403551 {source="NCBI:mim2gene_medline", source="OMIM:264140", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562894
property_value: exactMatch http://identifiers.org/omim/264140
property_value: exactMatch http://identifiers.org/snomedct/236529001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403551

[Term]
id: MONDO:0009914
name: pseudodiastrophic dysplasia
def: "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." [Orphanet:85174]
subset: gard_rare {source="GARD:0009463"}
subset: ordo_malformation_syndrome {source="Orphanet:85174"}
synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463]
synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180]
xref: GARD:0009463 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:85174/attributed", source="ORDO:85174/ntbt", source="Orphanet:85174"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535826 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:85174/e", source="Orphanet:85174"}
xref: OMIM:264180 {source="MONDO:equivalentTo", source="ORDO:85174/e", source="Orphanet:85174"}
xref: Orphanet:85174 {source="OMIM:264180", source="MONDO:equivalentTo"}
xref: SCTID:254058002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432206 {source="OMIM:264180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85174/e", source="Orphanet:85174"}
is_a: MONDO:0015332 {source="Orphanet:85174"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0019700 {source="Orphanet:85174"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C535826
property_value: exactMatch http://identifiers.org/omim/264180
property_value: exactMatch http://identifiers.org/snomedct/254058002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432206
property_value: exactMatch Orphanet:85174
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia xsd:anyURI {source="GARD:0009463"}

[Term]
id: MONDO:0009915
name: 46,XX disorder of sex development-skeletal anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2975"}
synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975]
synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270]
xref: ICD10:Q56.2 {source="ORDO:2975/attributed", source="ORDO:2975/ntbt", source="Orphanet:2975"}
xref: MESH:C564869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="ORDO:2975/e"}
xref: Orphanet:2975 {source="OMIM:264270", source="MONDO:equivalentTo"}
xref: UMLS:C1849696 {source="OMIM:264270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2975", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017965 {source="Orphanet:2975"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:2975"} ! syndrome with disorder of sex development of gynecological interest
property_value: exactMatch http://identifiers.org/mesh/C564869
property_value: exactMatch http://identifiers.org/omim/264270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849696
property_value: exactMatch Orphanet:2975

[Term]
id: MONDO:0009916
name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
def: "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [NCIT:C120203]
subset: ordo_disease {source="Orphanet:752"}
synonym: "17 alpha ketosteroid reductase deficiency of testis" RELATED [GARD:0005659]
synonym: "17 alpha KSR deficiency" RELATED [GARD:0005659]
synonym: "17 Beta HSD3 deficiency" EXACT [NCIT:C120203]
synonym: "17 beta HSD3 deficiency" EXACT [NCIT:C120203]
synonym: "17 beta hydroxysteroid dehydrogenase III deficiency" RELATED [GARD:0005659]
synonym: "17-Beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [OMIM:264300]
synonym: "17-beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [GARD:0005659]
synonym: "17-BETA hydroxysteroid dehydrogenase III deficiency" RELATED [OMIM:264300]
synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752]
synonym: "17-ketoreductase deficiency" EXACT [Orphanet:752]
synonym: "17-ketosteroid reductase deficiency of testis" RELATED [OMIM:264300]
synonym: "17-ketosteroidreductase deficiency" EXACT [Orphanet:752]
synonym: "17-KSR deficiency" RELATED [OMIM:264300]
synonym: "Male pseudoherma-phroditism with gynecomastia" RELATED [GARD:0005659]
synonym: "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752]
synonym: "neutral 17 beta hydroxysteroid oxidoreductase deficiency" RELATED [GARD:0005659]
synonym: "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency" RELATED [OMIM:264300]
synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300]
synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300]
synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300]
xref: GARD:0005659 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E29.1 {source="Orphanet:752", source="ORDO:752/attributed", source="ORDO:752/ntbt"}
xref: MESH:C537805 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:C564868 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C120203 {source="MONDO:equivalentTo"}
xref: OMIM:264300 {source="Orphanet:752", source="MONDO:equivalentTo", source="ORDO:752/e"}
xref: Orphanet:752 {source="MONDO:equivalentTo", source="OMIM:264300"}
xref: SCTID:50658006 {source="MONDO:kboom-pr-1.00/0.79/8.32", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0018388 {source="Orphanet:752"} ! rare male infertility due to testicular endocrine disorder
is_a: MONDO:0018406 ! rare male infertility due to adrenal disorder of genetic origin
is_a: MONDO:0018412 {source="MONDO:Entailed", source="Orphanet:752"} ! rare female infertility due to adrenal disorder of genetic origin
is_a: MONDO:0019596 {source="Orphanet:752"} ! 46,XY disorder of sex development due to testicular steroidogenesis defect
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849695
property_value: exactMatch http://identifiers.org/mesh/C537805
property_value: exactMatch http://identifiers.org/mesh/C564868
property_value: exactMatch http://identifiers.org/omim/264300
property_value: exactMatch http://identifiers.org/snomedct/50658006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268296
property_value: exactMatch NCIT:C120203
property_value: exactMatch Orphanet:752

[Term]
id: MONDO:0009917
name: autosomal recessive pseudohypoaldosteronism type 1
def: "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." [Orphanet:171876]
subset: gard_rare {source="GARD:0004552"}
subset: ordo_clinical_subtype {source="Orphanet:171876"}
synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854]
synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876]
synonym: "generalized PHA1" RELATED [GARD:0004552]
synonym: "generalized pseudohypoaldosteronism type 1" RELATED [GARD:0004552]
synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350]
synonym: "PHA1B" EXACT [DOID:0060854, MONDO:Lexical, OMIM:264350]
synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350]
synonym: "pseudohypoaldosteronism, type I, autosomal recessive; PHA1B" RELATED [OMIM:264350]
xref: DOID:0060854 {source="MONDO:equivalentTo"}
xref: GARD:0004552 {source="MONDO:equivalentTo"}
xref: ICD10:N25.8 {source="DOID:0060854", source="ORDO:171876/attributed", source="ORDO:171876/ntbt", source="Orphanet:171876"}
xref: OMIM:264350 {source="MONDO:equivalentTo", source="DOID:0060854", source="ORDO:171876/e", source="Orphanet:171876"}
xref: Orphanet:171876 {source="OMIM:264350", source="MONDO:equivalentTo", source="DOID:0060854"}
is_a: MONDO:0019161 {source="MONDOLEX:0009917", source="Orphanet:171876"} ! pseudohypoaldosteronism type 1
property_value: exactMatch DOID:0060854
property_value: exactMatch http://identifiers.org/omim/264350
property_value: exactMatch Orphanet:171876
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 xsd:anyURI {source="GARD:0004552"}

[Term]
id: MONDO:0009918
name: fundus dystrophy, pseudoinflammatory, recessive form
synonym: "fundus dystrophy, pseudoinflammatory recessive form" RELATED [GARD:0009633]
synonym: "fundus dystrophy, pseudoinflammatory, recessive form" EXACT [OMIM:264420]
synonym: "PFD Lavia type" RELATED [GARD:0009633]
synonym: "Pfd, Finnish type" RELATED [OMIM:264420]
synonym: "Pfd, Lavia type" RELATED [OMIM:264420]
synonym: "pseudoinflammatory fundus dystrophy" RELATED [GARD:0009633]
xref: GARD:0009633 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535828 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264420 {source="MONDO:equivalentTo"}
xref: UMLS:C1849694 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264420"}
is_a: MONDO:0007640 {source="ORDO:59181/btnt"} ! Sorsby's fundus dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535828
property_value: exactMatch http://identifiers.org/omim/264420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849694

[Term]
id: MONDO:0009919
name: peroxisomal acyl-CoA oxidase deficiency
def: "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [Orphanet:2971]
subset: ordo_disease {source="Orphanet:2971"}
synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT [OMIM:264470]
synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [DOID:0050797]
synonym: "pseudo-NALD" EXACT [Orphanet:2971]
synonym: "pseudo-neonatal adrenoleukodystrophy" EXACT [Orphanet:2971]
synonym: "Pseudoadrenoleukodystrophy" EXACT [Orphanet:2971]
synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470]
synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470]
xref: DOID:0050797 {source="MONDO:equivalentTo"}
xref: GARD:0004543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="Orphanet:2971", source="ORDO:2971/attributed", source="ORDO:2971/ntbt"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536662 {source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264470 {source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="MONDO:equivalentTo"}
xref: Orphanet:2971 {source="OMIM:264470", source="MONDO:equivalentTo"}
xref: SCTID:238069004 {source="MONDO:equivalentTo"}
xref: UMLS:C1849678 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="NCBI:mim2gene_medline", source="OMIM:264470", source="MONDO:equivalentTo"}
is_a: MONDO:0016398 {source="Orphanet:2971"} ! peroxisomal disease with epilepsy
is_a: MONDO:0019233 {source="Orphanet:2971"} ! peroxisomal beta-oxidation disorder
property_value: exactMatch DOID:0050797
property_value: exactMatch http://identifiers.org/mesh/C536662
property_value: exactMatch http://identifiers.org/omim/264470
property_value: exactMatch http://identifiers.org/snomedct/238069004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849678
property_value: exactMatch Orphanet:2971

[Term]
id: MONDO:0009920
name: Acrootoocular syndrome
def: "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." [Orphanet:2980]
subset: ordo_malformation_syndrome {source="Orphanet:2980"}
synonym: "acrootoocular syndrome" EXACT [OMIM:264475]
synonym: "Aoo syndrome" RELATED [OMIM:264475]
synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475]
synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980]
xref: ICD10:Q87.0 {source="Orphanet:2980", source="ORDO:2980/attributed", source="ORDO:2980/ntbt"}
xref: MESH:C564866 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264475 {source="Orphanet:2980", source="ORDO:2980/e", source="MONDO:equivalentTo"}
xref: Orphanet:2980 {source="MONDO:equivalentTo", source="OMIM:264475"}
xref: SCTID:720410001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.54"}
xref: UMLS:C1849661 {source="Orphanet:2980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264475"}
is_a: MONDO:0015218 {source="Orphanet:2980"} ! syndromic developmental defect of the eye
is_a: MONDO:0020169 {source="Orphanet:2980"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/C564866
property_value: exactMatch http://identifiers.org/omim/264475
property_value: exactMatch http://identifiers.org/snomedct/720410001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849661
property_value: exactMatch Orphanet:2980

[Term]
id: MONDO:0009921
name: holoprosencephaly-postaxial polydactyly syndrome
def: "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." [Orphanet:2166]
subset: ordo_malformation_syndrome {source="Orphanet:2166"}
synonym: "holoprosencephaly polydactyly syndrome" RELATED [GARD:0000344]
synonym: "holoprosencephaly-polydactyly syndrome" RELATED [OMIM:264480]
synonym: "pseudo trisomy 13 syndrome" RELATED [GARD:0000344]
synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166]
synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480]
synonym: "Young-Maders syndrome" RELATED [GARD:0000344]
xref: GARD:0000344 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2166", source="ORDO:2166/attributed", source="ORDO:2166/ntbt"}
xref: MESH:C535829 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125418 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.21"}
xref: OMIM:264480 {source="Orphanet:2166", source="ORDO:2166/e", source="MONDO:equivalentTo"}
xref: Orphanet:2166 {source="OMIM:264480", source="MONDO:equivalentTo"}
xref: SCTID:716091000 {source="MONDO:kboom-pr-1.00/0.76/6.40", source="MONDO:equivalentTo"}
xref: UMLS:C1849649 {source="Orphanet:2166", source="ORDO:2166/e", source="OMIM:264480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C125418"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2166", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2166"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535829
property_value: exactMatch http://identifiers.org/omim/264480
property_value: exactMatch http://identifiers.org/snomedct/716091000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849649
property_value: exactMatch NCIT:C125418
property_value: exactMatch Orphanet:2166

[Term]
id: MONDO:0009922
name: Pseudouridinuria and mental defect
synonym: "Pseudouridinuria and mental defect" EXACT [OMIM:264500]
xref: MESH:C564864 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:264500 {source="MONDO:equivalentTo"}
xref: UMLS:C1849648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264500"}
is_a: MONDO:0003847 {source="MESH:C564864/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564864
property_value: exactMatch http://identifiers.org/omim/264500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849648

[Term]
id: MONDO:0009923
name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
def: "46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis." [Orphanet:753]
subset: ordo_disease {source="Orphanet:753"}
synonym: "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" EXACT [NCIT:C98699]
synonym: "46,XY DSD due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753]
synonym: "5 Alpha steroid reductase 2 deficiency" EXACT [NCIT:C98699]
synonym: "5-alpha reductase deficiency" RELATED [GARD:0005680]
synonym: "familial incomplete Male pseudohermaphroditism, type 2" RELATED [OMIM:264600]
synonym: "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753]
synonym: "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency" RELATED [OMIM:264600]
synonym: "micropenis" RELATED [OMIM:264600]
synonym: "PPSH" RELATED [MONDO:Lexical, OMIM:264600]
synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753]
synonym: "pseudovaginal perineoscrotal hypospadias; PPSH" RELATED [OMIM:264600]
synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753]
xref: GARD:0005680 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q56.1 {source="Orphanet:753", source="ORDO:753/attributed", source="ORDO:753/ntbt"}
xref: MedDRA:10000029 {source="Orphanet:753", source="ORDO:753/e"}
xref: MESH:C535830 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98699 {source="MONDO:kboom-pr-1.00/0.91/26.23", source="MONDO:equivalentTo"}
xref: OMIM:264600 {source="Orphanet:753", source="MONDO:equivalentTo", source="ORDO:753/e"}
xref: Orphanet:753 {source="MONDO:equivalentTo", source="OMIM:264600"}
xref: SCTID:57514000 {source="MONDO:kboom-pr-1.00/0.79/7.43", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98699"} ! inherited lipid metabolism disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018388 {source="Orphanet:753"} ! rare male infertility due to testicular endocrine disorder
is_a: MONDO:0020041 {source="Orphanet:753"} ! 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
is_a: MONDO:0021124 ! female infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268297
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3669122
property_value: exactMatch http://identifiers.org/meddra/10000029
property_value: exactMatch http://identifiers.org/mesh/C535830
property_value: exactMatch http://identifiers.org/omim/264600
property_value: exactMatch http://identifiers.org/snomedct/57514000
property_value: exactMatch NCIT:C98699
property_value: exactMatch Orphanet:753

[Term]
id: MONDO:0009924
name: vitamin D-dependent rickets, type 1
def: "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." [Orphanet:289157]
subset: ordo_disease {source="Orphanet:289157"}
synonym: "1 Alpha-hydroxylase deficiency" EXACT [NCIT:C131073]
synonym: "1-alpha-hydroxylase deficiency" EXACT [Orphanet:289157]
synonym: "hypocalcemic vitamin D-dependent rickets" EXACT [Orphanet:289157]
synonym: "PDDRI" EXACT [Orphanet:289157]
synonym: "pseudo vitamin-D deficient rickets" EXACT [NCIT:C131073]
synonym: "pseudovitamin D-deficient rickets" EXACT [Orphanet:289157]
synonym: "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" EXACT [NCIT:C131073]
synonym: "VDDI" EXACT [Orphanet:289157]
synonym: "VDDR-I" EXACT [Orphanet:289157]
synonym: "VDDR1" EXACT [NCIT:C131073]
synonym: "vitamin D 1 Alpha-Hydroxylase deficiency" EXACT [NCIT:C131073]
synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700]
synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157]
synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157]
synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073]
xref: ICD10:E55.0 {source="Orphanet:289157", source="ORDO:289157/attributed", source="ORDO:289157/ntbt"}
xref: MESH:C562688 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131073 {source="MONDO:equivalentTo"}
xref: Orphanet:289157 {source="MONDO:equivalentTo", source="OMIM:264700"}
xref: SCTID:67049004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.64"}
is_a: MONDO:0017323 {source="Orphanet:289157"} ! hypocalcemic rickets
is_a: MONDO:0024299 {source="MONDO:cjm", source="MONDOLEX:0009924", source="linkedlifedata"} ! vitamin D-dependent rickets
property_value: exactMatch http://identifiers.org/mesh/C562688
property_value: exactMatch http://identifiers.org/snomedct/67049004
property_value: exactMatch NCIT:C131073
property_value: exactMatch Orphanet:289157

[Term]
id: MONDO:0009925
name: autosomal recessive inherited pseudoxanthoma elasticum
def: "An autosomal recessive form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
subset: gard_rare {source="GARD:0009643"}
subset: ordo_disease {source="Orphanet:758"}
synonym: "AR inherited pseudoxanthoma elasticum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6601-2165]
synonym: "Gronblad Strandberg syndrome" RELATED [GARD:0009643]
synonym: "Gronblad-Strandberg syndrome" EXACT [DOID:2738, OMIM:264800]
synonym: "Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:758]
synonym: "pseudoxanthoma elasticum" RELATED [MONDO:Lexical, OMIM:264800]
synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:264800]
synonym: "pseudoxanthoma elasticum; PXE" RELATED [OMIM:264800]
synonym: "PXE" EXACT [MONDO:Lexical, OMIM:264800, Orphanet:758]
synonym: "PXE, modifier of severity of" RELATED [OMIM:264800]
xref: DOID:2738 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:758/index", source="Orphanet:758", source="ORDO:758/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037150 {source="ORDO:758/e", source="Orphanet:758"}
xref: MESH:D011561 {source="ORDO:758/e", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738"}
xref: NCIT:C85036 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2738"}
xref: OMIM:264800 {source="ORDO:758/e", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738"}
xref: Orphanet:758 {source="MONDO:equivalentTo", source="DOID:2738", source="OMIM:264800"}
xref: SCTID:402782006 {source="MONDO:equivalentTo"}
xref: SCTID:72744008 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0033847 {source="ORDO:758/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="NCIT:C85036", source="OMIM:264800"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 {source="DOID:2738", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015331 {source="Orphanet:758"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015332 {source="Orphanet:758"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015512 {source="Orphanet:758"} ! genetic hypertension
is_a: MONDO:0015953 {source="Orphanet:758"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0016340 {source="Orphanet:758"} ! familial restrictive cardiomyopathy
is_a: MONDO:0019292 {source="Orphanet:758", source="Orphanet:758/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0020272 {source="Orphanet:758"} ! connective tissue disease with eye involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum
intersection_of: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0024308 {source="MONDO:Redundant", source="linkedlifedata"} ! pseudoxanthoma elasticum (inherited or acquired)
property_value: closeMatch http://identifiers.org/snomedct/157017000
property_value: closeMatch http://identifiers.org/snomedct/205574000
property_value: closeMatch http://identifiers.org/snomedct/268355000
property_value: closeMatch http://identifiers.org/snomedct/7109007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0376359
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279392
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279393
property_value: exactMatch DOID:2738
property_value: exactMatch http://identifiers.org/meddra/10037150
property_value: exactMatch http://identifiers.org/mesh/D011561
property_value: exactMatch http://identifiers.org/omim/264800
property_value: exactMatch http://identifiers.org/snomedct/402782006
property_value: exactMatch http://identifiers.org/snomedct/72744008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033847
property_value: exactMatch NCIT:C85036
property_value: exactMatch Orphanet:758
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:anyURI {source="GARD:0009643"}

[Term]
id: MONDO:0009926
name: autosomal recessive multiple pterygium syndrome
def: "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." [NCIT:C101039]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2990"}
synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111]
synonym: "autosomal recessive non-lethal multiple pterygium syndrome" EXACT [Orphanet:2990]
synonym: "Escobar syndrome" EXACT [Orphanet:2990]
synonym: "Escobar variant multiple pterygium syndrome" EXACT [GARD:0007111, Orphanet:2990]
synonym: "EVMPS" EXACT [GARD:0007111, MONDO:Lexical, OMIM:265000, Orphanet:2990]
synonym: "multiple pterygium syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "multiple pterygium syndrome Escobar type" RELATED [GARD:0007111]
synonym: "multiple pterygium syndrome nonlethal type" RELATED [GARD:0007111]
synonym: "multiple pterygium syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "multiple pterygium syndrome, ESCOBAR variant" RELATED [MONDO:Lexical, OMIM:265000]
synonym: "multiple pterygium syndrome, ESCOBAR variant; EVMPS" RELATED [OMIM:265000]
synonym: "multiple pterygium syndrome, Nonlethal type" RELATED [OMIM:265000]
synonym: "pterygium colli syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "pterygium Universale" RELATED [OMIM:265000]
synonym: "pterygium universale" RELATED [GARD:0007111]
xref: GARD:0007111 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="Orphanet:2990", source="ORDO:2990/attributed", source="ORDO:2990/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C101039 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="GARD:0007111", source="ORDO:2990/e"}
xref: Orphanet:2990 {source="MONDO:equivalentTo", source="OMIM:265000", source="GARD:0007111"}
xref: SCTID:80773006 {source="MONDO:kboom-pr-0.90/0.76/0.54", source="MONDO:equivalentTo"}
xref: UMLS:CN203342 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017415 {source="DC-OMIM:265000", source="MONDO:Redundant", source="Orphanet:2990"} ! multiple pterygium syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2990"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/omim/265000
property_value: exactMatch http://identifiers.org/snomedct/80773006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203342
property_value: exactMatch NCIT:C101039
property_value: exactMatch Orphanet:2990
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type xsd:anyURI {source="GARD:0007111"}

[Term]
id: MONDO:0009927
name: 3MC syndrome 2
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3MC syndrome 2" EXACT [MONDO:Lexical, OMIM:265050]
synonym: "3MC syndrome 2; 3MC2" RELATED [OMIM:265050]
synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1]
synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1, OMIM:265050]
synonym: "3MC2" RELATED [MONDO:Lexical, OMIM:265050]
synonym: "Carnevale syndrome" RELATED [OMIM:265050]
synonym: "Carnevale syndrome, formerly" RELATED [OMIM:265050]
synonym: "COLEC11 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oculo-skeletal-abdominal syndrome" RELATED [OMIM:265050]
synonym: "Osa syndrome" RELATED [OMIM:265050]
synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050]
xref: DOID:0060576 {source="MONDO:equivalentTo"}
xref: EFO:1001977 {source="MONDO:equivalentTo"}
xref: MESH:C535586 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265050 {source="DOID:0060576", source="MONDO:equivalentTo"}
xref: Orphanet:2998 {source="OMIM:265050", source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0017398 {source="DC-OMIM:265050", source="DOID:0060576", source="EFO:1001977", source="MONDO:Redundant", source="OMIM:265050"} ! 3MC syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796279
property_value: exactMatch DOID:0060576
property_value: exactMatch http://identifiers.org/mesh/C535586
property_value: exactMatch http://identifiers.org/omim/265050
property_value: exactMatch Orphanet:2998

[Term]
id: MONDO:0009928
name: pulmonary alveolar microlithiasis
def: "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis , respiratory failure, or cor pulmonale . The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis]
subset: gard_rare {source="GARD:0011894"}
subset: ordo_disease {source="Orphanet:60025"}
synonym: "pulmonary alveolar microlithiasis" EXACT [OMIM:265100]
xref: COHD:437906 {source="MONDO:equivalentTo"}
xref: DOID:12117 {source="MONDO:equivalentTo"}
xref: GARD:0011894 {source="MONDO:equivalentTo"}
xref: ICD10:J84.0 {source="Orphanet:60025", source="ORDO:60025/inclusion", source="ORDO:60025/ntbt"}
xref: ICD10:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"}
xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10037315 {source="ORDO:60025/e", source="Orphanet:60025"}
xref: MESH:C562405 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265100 {source="DOID:12117", source="ORDO:60025/e", source="Orphanet:60025", source="MONDO:equivalentTo"}
xref: Orphanet:60025 {source="MONDO:equivalentTo", source="OMIM:265100"}
xref: SCTID:87153008 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155912 {source="DOID:12117", source="ORDO:60025/e", source="Orphanet:60025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265100"}
is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/196160008
property_value: exactMatch DOID:12117
property_value: exactMatch http://identifiers.org/meddra/10037315
property_value: exactMatch http://identifiers.org/mesh/C562405
property_value: exactMatch http://identifiers.org/omim/265100
property_value: exactMatch http://identifiers.org/snomedct/87153008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155912
property_value: exactMatch Orphanet:60025
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis xsd:anyURI {source="GARD:0011894"}

[Term]
id: MONDO:0009929
name: neonatal acute respiratory distress due to SP-B deficiency
subset: gard_rare
subset: ordo_disease {source="Orphanet:217563"}
synonym: "interstitial lung disease due to surfactant Protein B deficiency" RELATED [OMIM:265120]
synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [OMIM:265120]
synonym: "neonatal acute respiratory distress due to surfactant protein B deficiency" EXACT [Orphanet:217563]
synonym: "pulmonary alveolar proteinosis, congenital, 1" RELATED [OMIM:265120]
synonym: "pulmonary surfactant protein B, deficiency of" RELATED [GARD:0004595]
synonym: "SMDP1" RELATED [MONDO:Lexical, OMIM:265120]
synonym: "surfactant metabolism dysfunction, pulmonary, 1" RELATED [MONDO:Lexical, OMIM:265120]
synonym: "surfactant metabolism dysfunction, pulmonary, 1; SMDP1" RELATED [OMIM:265120]
synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120]
xref: GARD:0004595 {source="MONDO:equivalentTo"}
xref: ICD10:P28.0 {source="ORDO:217563/ntbt", source="ORDO:217563/index", source="Orphanet:217563"}
xref: MESH:C566882 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265120 {source="MONDO:equivalentTo", source="ORDO:217563/e", source="Orphanet:217563"}
xref: Orphanet:217563 {source="OMIM:265120", source="MONDO:equivalentTo"}
xref: UMLS:C1968602 {source="OMIM:265120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015052 {source="Orphanet:217563"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
property_value: exactMatch http://identifiers.org/mesh/C566882
property_value: exactMatch http://identifiers.org/omim/265120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968602
property_value: exactMatch Orphanet:217563

[Term]
id: MONDO:0009930
name: pulmonary arteriovenous malformation (disease)
def: "Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." [Orphanet:2038]
subset: ordo_morphological_anomaly {source="Orphanet:2038"}
synonym: "arteriovenous fistula of pulmonary vessels" EXACT [NCIT:C99029]
synonym: "PAVM" EXACT [Orphanet:2038]
synonym: "pulmonar arteriovenous aneurysm" RELATED [GARD:0004584]
synonym: "pulmonary arterio-veinous fistula" RELATED [GARD:0004584]
synonym: "pulmonary arteriovenous fistula" EXACT [NCIT:C99029]
synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140]
synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous]
synonym: "pulmonary AV fistula" EXACT [NCIT:C99029]
xref: COHD:4119302 {source="MONDO:equivalentTo"}
xref: GARD:0004584 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0006548 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q25.7 {source="Orphanet:2038", source="ORDO:2038/ntbt"}
xref: MedDRA:10037332 {source="Orphanet:2038", source="ORDO:2038/e"}
xref: MESH:C562404 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99029 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:265140 {source="Orphanet:2038", source="ORDO:2038/e", source="MONDO:equivalentTo"}
xref: Orphanet:2038 {source="OMIM:265140", source="MONDO:equivalentTo"}
xref: SCTID:303070000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: UMLS:C0155675 {source="MEDGEN:kboom-pr98-c99", source="OMIM:265140", source="Orphanet:2038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99029"}
is_a: MONDO:0001256 {source="Orphanet:2038"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015221 {source="Orphanet:2038"} ! non-syndromic respiratory or mediastinal malformation
property_value: exactMatch http://identifiers.org/meddra/10037332
property_value: exactMatch http://identifiers.org/mesh/C562404
property_value: exactMatch http://identifiers.org/omim/265140
property_value: exactMatch http://identifiers.org/snomedct/303070000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155675
property_value: exactMatch NCIT:C99029
property_value: exactMatch Orphanet:2038

[Term]
id: MONDO:0009931
name: pulmonary atresia-intact ventricular septum syndrome
def: "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." [Orphanet:1208]
subset: ordo_morphological_anomaly {source="Orphanet:1208"}
synonym: "pulmonary atresia with intact ventricular septum" RELATED [OMIM:265150]
synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [NCIT:C99032]
xref: GARD:0004600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q22.6 {source="MONDO:subClassOf", source="ORDO:1208/ntbt", source="Orphanet:1208"}
xref: MESH:C562832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99032 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.72"}
xref: OMIM:265150 {source="MONDO:equivalentTo", source="Orphanet:1208", source="ORDO:1208/e"}
xref: Orphanet:1208 {source="OMIM:265150", source="MONDO:equivalentTo"}
xref: SCTID:253590009 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo"}
xref: UMLS:C0344975 {source="OMIM:265150", source="NCIT:C99032", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1208", source="ORDO:1208/e"}
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0020287 {source="Orphanet:1208"} ! pulmonary artery or pulmonary branch anomaly
is_a: MONDO:0020291 {source="Orphanet:1208"} ! hypoplastic right heart syndrome
property_value: exactMatch http://identifiers.org/mesh/C562832
property_value: exactMatch http://identifiers.org/omim/265150
property_value: exactMatch http://identifiers.org/snomedct/253590009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344975
property_value: exactMatch NCIT:C99032
property_value: exactMatch Orphanet:1208

[Term]
id: MONDO:0009932
name: pulmonary bullae causing pneumothorax
synonym: "pulmonary bullae causing pneumothorax" EXACT [OMIM:265200]
xref: MESH:C564863 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265200 {source="MONDO:equivalentTo"}
xref: UMLS:C1849566 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564863
property_value: exactMatch http://identifiers.org/omim/265200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849566

[Term]
id: MONDO:0009933
name: congenital pulmonary lymphangiectasia
def: "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." [Orphanet:2414]
subset: gard_rare {source="GARD:0009900"}
subset: ordo_disease {source="Orphanet:2414"}
synonym: "congenital pulmonary lymphangiectasis" EXACT [NCIT:C99034]
synonym: "CPL" RELATED [MONDO:Lexical, OMIM:265300]
synonym: "lymphangiectasia pulmonary congenital" RELATED [GARD:0009900]
synonym: "lymphangiectasia, pulmonary, congenital" RELATED [MONDO:Lexical, OMIM:265300]
synonym: "lymphangiectasia, pulmonary, congenital; CPL" RELATED [OMIM:265300]
synonym: "lymphangiomatosis pulmonary" RELATED [GARD:0009900]
synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300]
synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300]
synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414]
xref: GARD:0009900 {source="MONDO:equivalentTo"}
xref: ICD10:Q33.8 {source="ORDO:2414/attributed", source="ORDO:2414/ntbt", source="Orphanet:2414"}
xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="ORDO:2414/e", source="MONDO:ontobio"}
xref: NCIT:C99034 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:265300 {source="MONDO:equivalentTo", source="Orphanet:2414", source="ORDO:2414/e"}
xref: Orphanet:2414 {source="MONDO:equivalentTo", source="OMIM:265300"}
xref: SCTID:45142002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99034", source="Orphanet:2414", source="ORDO:2414/e", source="OMIM:265300"}
is_a: MONDO:0006840 {source="MESH:C537727", source="NCIT:C99034"} ! lymphangiectasis
is_a: MONDO:0015221 {source="Orphanet:2414"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2414"} ! respiratory malformation
is_a: MONDO:0017017 {source="Orphanet:2414"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
is_a: MONDO:0018722 {source="Orphanet:2414"} ! primary lymphedema with associated anomalies
property_value: exactMatch http://identifiers.org/mesh/C537727
property_value: exactMatch http://identifiers.org/omim/265300
property_value: exactMatch http://identifiers.org/snomedct/45142002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849554
property_value: exactMatch NCIT:C99034
property_value: exactMatch Orphanet:2414
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia xsd:anyURI {source="GARD:0009900"}

[Term]
id: MONDO:0009934
name: congenital alveolar capillary dysplasia
def: "Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." [Orphanet:210122]
comment: Editor note: MESH and NCIT split this, see NCIT:C98809
subset: gard_rare
subset: ordo_disease {source="Orphanet:210122"}
synonym: "ACDMPV" EXACT [MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122]
synonym: "alveolar capillary dysplasia" EXACT [NCIT:C98809]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [GARD:0008644, MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies" RELATED [OMIM:265380]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" RELATED [MESH:C536590]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins; ACDMPV" RELATED [OMIM:265380]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary vessels" EXACT [Orphanet:210122]
synonym: "alveolar capillary dysplasia with pulmonary venous misalignment" RELATED [GARD:0008644]
synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C536590]
synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [DOID:13042]
synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GARD:0008644]
synonym: "fetal circulation" EXACT [DOID:13042]
synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM_2006:747.83]
synonym: "persistent fetal circulation syndrome" EXACT EXCLUDE [DOID:13042]
synonym: "persistent fetal circulation syndrome" RELATED [DOID:13042]
synonym: "persistent pulmonary hypertension of the newborn" RELATED [CSP2005:0723-5955, CSP2005:2595-6954, DOID:13042]
synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644]
xref: COHD:197970 {source="MONDO:equivalentTo"}
xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"}
xref: EFO:1001103 {source="MONDO:equivalentTo"}
xref: GARD:0008644 {source="MONDO:equivalentTo"}
xref: ICD10:P29.3 {source="DOID:13042", source="EFO:1001103", source="MONDO:equivalentTo"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:747.83 {source="DOID:13042"}
xref: MedDRA:10054726 {source="EFO:1001103"}
xref: MESH:C536590 {source="MONDO:equivalentTo"}
xref: MESH:D010547 {source="DOID:13042", source="EFO:1001103", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98809 {source="MONDO:equivalentTo"}
xref: OMIM:265380 {source="ORDO:210122/e", source="Orphanet:210122", source="DOID:13042", source="MONDO:equivalentTo", source="GARD:0008644"}
xref: Orphanet:210122 {source="OMIM:265380", source="MONDO:equivalentTo", source="GARD:0008644"}
xref: SCTID:447275002 {source="MONDO:equivalentTo", source="GARD:0008644"}
xref: UMLS:C0031190 {source="OMIM:265380", source="NCBI:mim2gene_medline", source="DOID:13042", source="MONDO:equivalentTo"}
is_a: MONDO:0017017 {source="Orphanet:210122"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
is_a: MONDO:0020295 {source="MONDO:cjm", source="linkedlifedata"} ! congenital pulmonary veins anomaly
property_value: closeMatch http://identifiers.org/meddra/10054726
property_value: closeMatch http://identifiers.org/snomedct/204507004
property_value: closeMatch http://identifiers.org/snomedct/206597007
property_value: closeMatch http://identifiers.org/snomedct/35604006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677362
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2960310
property_value: exactMatch DOID:13042
property_value: exactMatch http://identifiers.org/mesh/C536590
property_value: exactMatch http://identifiers.org/mesh/D010547
property_value: exactMatch http://identifiers.org/omim/265380
property_value: exactMatch http://identifiers.org/snomedct/447275002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031190
property_value: exactMatch NCIT:C98809
property_value: exactMatch Orphanet:210122
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia xsd:anyURI {source="GARD:0008644"}

[Term]
id: MONDO:0009935
name: pulmonary hypertension, primary, autosomal recessive
synonym: "pulmonary hypertension, primary, autosomal recessive" EXACT [OMIM:265400]
xref: MESH:C564862 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265400 {source="MONDO:equivalentTo"}
xref: UMLS:C1849552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265400"}
is_a: MONDO:0008347 {source="ORDO:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: exactMatch http://identifiers.org/mesh/C564862
property_value: exactMatch http://identifiers.org/omim/265400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849552

[Term]
id: MONDO:0009936
name: familial primary pulmonary hypoplasia
def: "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." [Orphanet:2257]
subset: ordo_malformation_syndrome {source="Orphanet:2257"}
synonym: "lung agenesis" RELATED [OMIM:265430]
synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257]
synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430]
xref: ICD10:Q33.6 {source="Orphanet:2257", source="ORDO:2257/attributed", source="ORDO:2257/ntbt"}
xref: ICD9:748.5 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:265430 {source="ORDO:2257/e", source="Orphanet:2257", source="MONDO:equivalentTo"}
xref: Orphanet:2257 {source="MONDO:equivalentTo", source="OMIM:265430"}
xref: SCTID:277656005 {source="MONDO:kboom-pr-0.67/0.31/0.14", source="MONDO:equivalentTo"}
xref: UMLS:CN226916 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015221 {source="Orphanet:2257"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2257"} ! respiratory malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0456891
property_value: exactMatch http://identifiers.org/omim/265430
property_value: exactMatch http://identifiers.org/snomedct/277656005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226916
property_value: exactMatch Orphanet:2257

[Term]
id: MONDO:0009937
name: pulmonary venoocclusive disease
def: "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." [NCIT:P378]
subset: gard_rare {source="GARD:0010153"}
subset: ordo_disease {source="Orphanet:31837"}
subset: prototype_pattern
synonym: "obstructive disease of the pulmonary veins" RELATED [GARD:0010153]
synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453]
synonym: "PVOD" EXACT [OMIM:265450]
xref: DOID:5453 {source="MONDO:equivalentTo"}
xref: GARD:0010153 {source="MONDO:equivalentTo"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037458 {source="ORDO:31837/e", source="Orphanet:31837"}
xref: MESH:D011668 {source="DOID:5453", source="MONDO:equivalentTo", source="ORDO:31837/e", source="MONDO:ontobio", source="Orphanet:31837"}
xref: NCIT:C85039 {source="DOID:5453", source="MONDO:equivalentTo"}
xref: OMIMPS:265450 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:31837 {source="OMIM:265450", source="MONDO:equivalentTo"}
xref: SCTID:89420002 {source="DOID:5453", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0034091 {source="DOID:5453", source="OMIM:265450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:31837/e", source="Orphanet:31837"}
is_a: MONDO:0018554 {source="Orphanet:31837"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
property_value: exactMatch DOID:5453
property_value: exactMatch http://identifiers.org/meddra/10037458
property_value: exactMatch http://identifiers.org/mesh/D011668
property_value: exactMatch http://identifiers.org/snomedct/89420002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034091
property_value: exactMatch NCIT:C85039
property_value: exactMatch Orphanet:31837
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease xsd:anyURI {source="GARD:0010153"}

[Term]
id: MONDO:0009938
name: pulmonic stenosis (disease)
synonym: "pulmonary stenosis" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pulmonic stenosis" EXACT [MONDO:ambiguous, OMIM:265500]
synonym: "valvular pulmonic stenosis" RELATED [GARD:0010071]
xref: GARD:0010071 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0001642 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIM:265500 {source="MONDO:equivalentTo"}
xref: UMLS:C1956257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265500"}
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0017865 {source="ORDO:3189/btnt"} ! congenital pulmonary valve stenosis
property_value: exactMatch http://identifiers.org/omim/265500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956257

[Term]
id: MONDO:0009939
name: pulmonic stenosis and congenital nephrosis
synonym: "pulmonic stenosis and congenital nephrosis" EXACT [OMIM:265600]
xref: MESH:C562895 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265600 {source="MONDO:equivalentTo"}
xref: SCTID:236530006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0403552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265600"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562895
property_value: exactMatch http://identifiers.org/omim/265600
property_value: exactMatch http://identifiers.org/snomedct/236530006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403552

[Term]
id: MONDO:0009940
name: pycnodysostosis
def: "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." [https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis]
subset: gard_rare {source="GARD:0004611"}
subset: ordo_disease {source="Orphanet:763"}
synonym: "PKND" RELATED [GARD:0004611]
synonym: "Pycd" RELATED [OMIM:265800]
synonym: "pycnodysostosis" EXACT [OMIM:265800]
synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763]
xref: DOID:0080038 {source="MONDO:equivalentTo"}
xref: GARD:0004611 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:763", source="ORDO:763/attributed", source="ORDO:763/ntbt"}
xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:763/e"}
xref: NCIT:C131187 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:265800 {source="Orphanet:763", source="MONDO:equivalentTo", source="ORDO:763/e"}
xref: Orphanet:763 {source="MONDO:equivalentTo", source="OMIM:265800"}
xref: SCTID:89647000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0238402 {source="Orphanet:763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131187", source="ORDO:763/e", source="OMIM:265800"}
is_a: MONDO:0002561 {source="MESH:D058631", source="Orphanet:763"} ! lysosomal storage disease
is_a: MONDO:0005516 {source="DOID:0080038", source="MESH:D058631"} ! osteochondrodysplasia
is_a: MONDO:0017198 {source="Orphanet:763", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteopetrosis (disease)
property_value: exactMatch DOID:0080038
property_value: exactMatch http://identifiers.org/mesh/D058631
property_value: exactMatch http://identifiers.org/omim/265800
property_value: exactMatch http://identifiers.org/snomedct/89647000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238402
property_value: exactMatch NCIT:C131187
property_value: exactMatch Orphanet:763
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis xsd:anyURI {source="GARD:0004611"}

[Term]
id: MONDO:0009941
name: Pygmy
synonym: "Pygmy" EXACT [OMIM:265850]
synonym: "Pygmy, African" RELATED [OMIM:265850]
xref: OMIM:265850 {source="MONDO:equivalentTo"}
xref: UMLS:C1849524 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265850"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/265850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849524

[Term]
id: MONDO:0009942
name: pyknoachondrogenesis
def: "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." [Orphanet:3003]
subset: gard_rare {source="GARD:0004610"}
subset: ordo_malformation_syndrome {source="Orphanet:3003"}
synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610]
synonym: "camera syndrome" EXACT [Orphanet:3003]
synonym: "pyknoachondrogenesis" EXACT [OMIM:265880]
xref: GARD:0004610 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:3003", source="ORDO:3003/attributed", source="ORDO:3003/ntbt"}
xref: MESH:C536251 {source="ORDO:3003/e", source="Orphanet:3003", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265880 {source="ORDO:3003/e", source="Orphanet:3003", source="MONDO:equivalentTo"}
xref: Orphanet:3003 {source="MONDO:equivalentTo", source="OMIM:265880"}
xref: SCTID:719258003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1849523 {source="ORDO:3003/e", source="Orphanet:3003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265880"}
is_a: MONDO:0019718 {source="Orphanet:3003"} ! lethal chondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C536251
property_value: exactMatch http://identifiers.org/omim/265880
property_value: exactMatch http://identifiers.org/snomedct/719258003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849523
property_value: exactMatch Orphanet:3003
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis xsd:anyURI {source="GARD:0004610"}

[Term]
id: MONDO:0009943
name: Pyle disease
def: "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." [Orphanet:3005]
subset: ordo_disease {source="Orphanet:3005"}
synonym: "Bakwin-Krida syndrome" EXACT [DOID:0080019, https://en.wikipedia.org/wiki/Metaphyseal_dysplasia]
synonym: "chondrodysplasia calcificans metaphysealis" EXACT [OMIM:215050]
synonym: "metaphyseal dysplasia" EXACT [MONDO:0000841]
synonym: "metaphyseal dysplasia" RELATED [OMIM:265900]
synonym: "metaphyseal dysplasia Pyle type" RELATED [GARD:0004612]
synonym: "metaphyseal dysplasia, Pyle type" EXACT [Orphanet:3005]
synonym: "Pyl" RELATED [OMIM:265900]
synonym: "Pyle disease" EXACT [OMIM:265900]
synonym: "Pyle disease; Pyl" RELATED [OMIM:265900]
synonym: "Pyle's disease" EXACT [DOID:0080019, https://en.wikipedia.org/wiki/Metaphyseal_dysplasia]
synonym: "Pyle's syndrome" EXACT [https://en.wikipedia.org/wiki/Metaphyseal_dysplasia]
synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, https://en.wikipedia.org/wiki/Metaphyseal_dysplasia]
xref: DOID:0080019 {source="MONDO:equivalentTo"}
xref: GARD:0004612 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.5 {source="Orphanet:3005", source="ORDO:3005/ntbt", source="ORDO:3005/inclusion"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536252 {source="ORDO:3005/e", source="Orphanet:3005", source="MONDO:equivalentTo"}
xref: OMIM:265900 {source="ORDO:3005/e", source="Orphanet:3005", source="MONDO:equivalentTo"}
xref: Orphanet:3005 {source="MONDO:equivalentTo", source="OMIM:265900"}
xref: SCTID:27837003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.45/0.16"}
is_a: MONDO:0005516 {source="DOID:0080019"} ! osteochondrodysplasia
is_a: MONDO:0019703 {source="Orphanet:3005"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265294
property_value: exactMatch DOID:0080019
property_value: exactMatch http://identifiers.org/mesh/C536252
property_value: exactMatch http://identifiers.org/omim/265900
property_value: exactMatch http://identifiers.org/snomedct/27837003
property_value: exactMatch Orphanet:3005

[Term]
id: MONDO:0009944
name: pyloric atresia
synonym: "pyloric atresia" EXACT [OMIM:265950]
xref: ICD9:750.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562561 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:265950 {source="MONDO:equivalentTo"}
xref: SCTID:27729002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266159
property_value: exactMatch http://identifiers.org/mesh/C562561
property_value: exactMatch http://identifiers.org/omim/265950
property_value: exactMatch http://identifiers.org/snomedct/27729002

[Term]
id: MONDO:0009945
name: pyridoxine-dependent epilepsy
def: "Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." [Orphanet:3006]
subset: gard_rare {source="GARD:0009298"}
subset: ordo_disease {source="Orphanet:3006"}
synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100]
synonym: "antiquitin deficiency" EXACT [Orphanet:3006]
synonym: "EPD" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent; Epd" RELATED [OMIM:266100]
synonym: "pyridoxine dependency" RELATED [GARD:0009298]
synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100]
synonym: "pyridoxine-dependent epilepsy" EXACT [OMIM:266100]
synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006]
xref: GARD:0009298 {source="MONDO:equivalentTo"}
xref: ICD10:G40.8 {source="ORDO:3006/specific", source="Orphanet:3006", source="ORDO:3006/e"}
xref: MESH:C536254 {source="Orphanet:3006", source="ORDO:3006/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3006 {source="MONDO:equivalentTo", source="OMIM:266100"}
xref: SCTID:734434007 {source="MONDO:equivalentTo"}
xref: UMLS:C1849508 {source="Orphanet:3006", source="NCBI:mim2gene_medline", source="ORDO:3006/e", source="MONDO:equivalentTo", source="OMIM:266100", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN203406 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016404 {source="Orphanet:3006"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0019058 {source="Orphanet:3006"} ! neurometabolic disease
is_a: MONDO:0019237 {source="Orphanet:3006"} ! inborn disorder of pyridoxine metabolism
is_a: MONDO:0100033 {comment="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C536254
property_value: exactMatch http://identifiers.org/snomedct/734434007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203406
property_value: exactMatch Orphanet:3006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy xsd:anyURI {source="GARD:0009298"}

[Term]
id: MONDO:0009946
name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
def: "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." [Orphanet:35120]
subset: ordo_disease {source="Orphanet:35120"}
synonym: "hemolytic Anemia due to P5N deficiency" RELATED [OMIM:266120]
synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [OMIM:266120]
synonym: "P5N deficiency" EXACT [OMIM:266120, Orphanet:35120]
synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [OMIM:266120]
synonym: "UMPH1 deficiency" EXACT [Orphanet:35120]
synonym: "Umph1 deficiency" RELATED [OMIM:266120]
synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120]
synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120]
xref: ICD10:D55.3 {source="ORDO:35120/attributed", source="ORDO:35120/ntbt", source="Orphanet:35120"}
xref: MESH:C564859 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266120 {source="MONDO:equivalentTo", source="ORDO:35120/e", source="Orphanet:35120"}
xref: Orphanet:35120 {source="OMIM:266120", source="MONDO:equivalentTo"}
xref: UMLS:C1849507 {source="NCBI:mim2gene_medline", source="OMIM:266120", source="MONDO:equivalentTo", source="Orphanet:35120", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0019238 {source="Orphanet:35120"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0020107 {source="Orphanet:35120"} ! hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C564859
property_value: exactMatch http://identifiers.org/omim/266120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849507
property_value: exactMatch Orphanet:35120

[Term]
id: MONDO:0009947
name: glutathione synthetase deficiency with 5-oxoprolinuria
subset: ordo_clinical_subtype {source="Orphanet:289846"}
synonym: "5-oxoprolinuria" RELATED [OMIM:266130]
synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130]
synonym: "glutathione synthetase deficiency; GSSD" RELATED [OMIM:266130]
synonym: "GSSD" RELATED [MONDO:Lexical, OMIM:266130]
synonym: "pyroglutamic aciduria" RELATED [OMIM:266130]
xref: ICD10:D55.1 {source="ORDO:289846/attributed", source="ORDO:289846/ntbt", source="Orphanet:289846"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="ORDO:289846/e"}
xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"}
xref: SCTID:39112005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37"}
is_a: MONDO:0017909 {source="Orphanet:289846"} ! inherited glutathione synthetase deficiency
property_value: exactMatch http://identifiers.org/omim/266130
property_value: exactMatch http://identifiers.org/snomedct/39112005
property_value: exactMatch Orphanet:289846

[Term]
id: MONDO:0009948
name: pyropoikilocytosis, hereditary
def: "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." [NCIT:C98943]
subset: gard_rare {source="GARD:0004619"}
synonym: "hereditary pyropoikilocytosis" RELATED [GARD:0004619]
synonym: "HPP" RELATED [MONDO:Lexical, OMIM:266140]
synonym: "pyropoikilocytosis hereditary" RELATED [GARD:0004619]
synonym: "pyropoikilocytosis, hereditary" EXACT [MONDO:Lexical, OMIM:266140]
synonym: "pyropoikilocytosis, hereditary; HPP" RELATED [OMIM:266140]
xref: GARD:0004619 {source="MONDO:equivalentTo"}
xref: ICD9:790.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563004 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98943 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: OMIM:266140 {source="MONDO:equivalentTo"}
xref: Orphanet:98867 {source="OMIM:266140", source="MONDO:obsoleteEquivalent"}
xref: SCTID:9434008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.41/0.83"}
is_a: MONDO:0003847 {source="MESH:C563004/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520739
property_value: exactMatch http://identifiers.org/mesh/C563004
property_value: exactMatch http://identifiers.org/omim/266140
property_value: exactMatch http://identifiers.org/snomedct/9434008
property_value: exactMatch NCIT:C98943
property_value: exactMatch Orphanet:98867
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary xsd:anyURI {source="GARD:0004619"}

[Term]
id: MONDO:0009949
name: pyruvate carboxylase deficiency disease
def: "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." [Orphanet:3008]
subset: ordo_disease {source="Orphanet:3008"}
synonym: "ataxia with lactic acidosis 2" RELATED [OMIM:266150]
synonym: "ataxia with lactic acidosis type 2" EXACT [Orphanet:3008]
synonym: "ataxia with lactic acidosis type II" EXACT [Orphanet:3008]
synonym: "deficiency of pyruvic carboxylase" EXACT [DOID:3651]
synonym: "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" EXACT [Orphanet:3008]
synonym: "Leigh syndrome due to PC deficiency" EXACT [Orphanet:3008]
synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT [OMIM:266150, Orphanet:3008]
synonym: "Pc deficiency" RELATED [OMIM:266150]
synonym: "pyruvate carboxylase deficiency" RELATED [OMIM:266150]
xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"}
xref: EFO:1001142 {source="MONDO:equivalentTo"}
xref: GARD:0007512 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.4 {source="DOID:3651", source="ORDO:3008/ntbt", source="Orphanet:3008", source="ORDO:3008/inclusion"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"}
xref: NCIT:C85040 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:266150 {source="DOID:3651", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"}
xref: Orphanet:3008 {source="OMIM:266150", source="MONDO:equivalentTo"}
xref: SCTID:87694001 {source="DOID:3651", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46"}
xref: UMLS:C0034341 {source="OMIM:266150", source="DOID:3651", source="NCIT:C85040", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"}
xref: UMLS:C2931141 {source="OMIM:266150", source="MONDO:equivalentTo", source="Orphanet:3008", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN203409 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019225 {source="Orphanet:3008"} ! gluconeogenesis disorder
property_value: closeMatch http://identifiers.org/snomedct/124716008
property_value: exactMatch DOID:3651
property_value: exactMatch http://identifiers.org/mesh/D015324
property_value: exactMatch http://identifiers.org/omim/266150
property_value: exactMatch http://identifiers.org/snomedct/87694001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931141
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203409
property_value: exactMatch NCIT:C85040
property_value: exactMatch Orphanet:3008

[Term]
id: MONDO:0009950
name: pyruvate kinase deficiency of red cells
def: "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." [Orphanet:766]
subset: ordo_disease {source="Orphanet:766"}
synonym: "hemolytic Anemia due to pyruvate Kinase deficiency" EXACT [NCIT:C99037]
synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077]
synonym: "PK deficiency" EXACT [DOID:0111077]
synonym: "Pk deficiency" RELATED [OMIM:266200]
synonym: "pyruvate kinase deficiency" RELATED [GARD:0007514]
synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [DOID:0111077, OMIM:266200]
synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766]
synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200]
xref: DOID:0111077 {source="MONDO:equivalentTo"}
xref: GARD:0007514 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D55.2 {source="Orphanet:766", source="ORDO:766/inclusion", source="ORDO:766/ntbt"}
xref: MESH:C564858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99037 {source="MONDO:equivalentTo"}
xref: OMIM:266200 {source="ORDO:766/e", source="Orphanet:766", source="MONDO:equivalentTo", source="DOID:0111077"}
xref: Orphanet:766 {source="MONDO:equivalentTo", source="OMIM:266200", source="DOID:0111077"}
xref: SCTID:124331002 {source="MONDO:equivalentTo"}
xref: UMLS:C0340968 {source="Orphanet:766", source="MONDO:equivalentTo", source="OMIM:266200"}
is_a: MONDO:0006506 {source="DOID:0111077", source="MESH:C564858"} ! congenital nonspherocytic hemolytic anemia
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0020106 {source="Orphanet:766"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849472
property_value: exactMatch DOID:0111077
property_value: exactMatch http://identifiers.org/mesh/C564858
property_value: exactMatch http://identifiers.org/omim/266200
property_value: exactMatch http://identifiers.org/snomedct/124331002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340968
property_value: exactMatch NCIT:C99037
property_value: exactMatch Orphanet:766

[Term]
id: MONDO:0009951
name: radiculoneuropathy, fatal neonatal
synonym: "Radiculoneuropathy, fatal neonatal" EXACT [OMIM:266250]
xref: MESH:C564857 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266250 {source="MONDO:equivalentTo"}
xref: UMLS:C1849471 {source="OMIM:266250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564857
property_value: exactMatch http://identifiers.org/omim/266250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849471

[Term]
id: MONDO:0009952
name: radioulnar synostosis-developmental delay-hypotonia syndrome
def: "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." [Orphanet:3270]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3270"}
synonym: "der Kaloustian mcintosh silver syndrome" RELATED []
synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270]
synonym: "radioulnar synostosis with developmental delay and hypotonia syndrome" EXACT []
synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED [OMIM:266255]
synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED [GARD:0001810]
xref: GARD:0001810 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3270/attributed", source="ORDO:3270/ntbt", source="Orphanet:3270"}
xref: MESH:C538217 {source="MONDO:equivalentTo"}
xref: MESH:C564856 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266255 {source="GARD:0001810", source="MONDO:equivalentTo", source="ORDO:3270/e", source="Orphanet:3270"}
xref: Orphanet:3270 {source="MONDO:equivalentTo", source="OMIM:266255"}
xref: SCTID:721883006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3270", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0001411 {source="MESH:C538217", source="MESH:C564856"} ! synostosis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005287 {source="MESH:C538217", source="MESH:C564856"} ! developmental disability
is_a: MONDO:0015159 {source="Orphanet:3270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017985 {source="linkedlifedata"} ! congenital radioulnar synostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019715 {source="Orphanet:3270"} ! syndrome with synostosis or other joint formation defect
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849470
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931776
property_value: exactMatch http://identifiers.org/mesh/C538217
property_value: exactMatch http://identifiers.org/mesh/C564856
property_value: exactMatch http://identifiers.org/omim/266255
property_value: exactMatch http://identifiers.org/snomedct/721883006
property_value: exactMatch Orphanet:3270
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome xsd:anyURI {source="GARD:0001810"}

[Term]
id: MONDO:0009953
name: leukocyte adhesion deficiency type II
def: "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." [Orphanet:99843]
subset: ordo_clinical_subtype {source="Orphanet:99843"}
synonym: "CDG 2C" RELATED [GARD:0004634]
synonym: "CDG IIc" EXACT [DOID:0070255]
synonym: "CDG syndrome type IIc" EXACT [Orphanet:99843]
synonym: "CDG-IIc" EXACT [Orphanet:99843]
synonym: "CDG2C" EXACT [DOID:0070255, Orphanet:99843]
synonym: "CDG2C" RELATED [MONDO:Lexical, OMIM:266265]
synonym: "CDGIIc" EXACT [DOID:0070255]
synonym: "congenital disorder of glycosylation type IIC" RELATED [GARD:0004634]
synonym: "congenital disorder of glycosylation, type IIc" RELATED [MONDO:Lexical, OMIM:266265]
synonym: "congenital disorder of glycosylation, type IIc; CDG2C" RELATED [OMIM:266265]
synonym: "lad-II" EXACT [Orphanet:99843]
synonym: "lad-type II" EXACT [NCIT:C4690]
synonym: "LAD2" EXACT [DOID:0070255, GARD:0004634]
synonym: "leukocyte adhesion deficiency type 2" EXACT [NCIT:C4690]
synonym: "leukocyte adhesion deficiency, type 2" RELATED [OMIM:266265]
synonym: "leukocyte adhesion deficiency, type II" EXACT [DOID:0070255]
synonym: "Rambam-Hasharon syndrome" EXACT [DOID:0070255, OMIM:266265, Orphanet:99843]
synonym: "RHS" EXACT [DOID:0070255]
synonym: "sialyl-Lewis X defect" EXACT [NCIT:C4690]
synonym: "SLC35C1-CDG" EXACT [Orphanet:99843]
synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634]
xref: DOID:0070255 {source="MONDO:equivalentTo"}
xref: GARD:0004634 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:4634 {source="DOID:0070255"}
xref: ICD10:D84.8 {source="Orphanet:99843", source="ORDO:99843/attributed", source="ORDO:99843/ntbt"}
xref: MESH:C535755 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4690 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: OMIM:266265 {source="ORDO:99843/e", source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo"}
xref: ORDO:99843 {source="DOID:0070255"}
xref: Orphanet:99843 {source="MONDO:equivalentTo", source="OMIM:266265"}
xref: SCTID:234583001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C0398739 {source="NCIT:C4690", source="MEDGEN:kboom-pr98-c99", source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo", source="OMIM:266265"}
is_a: MONDO:0005501 {source="DC-OMIM:266265", source="DOID:0070255", source="MONDOLEX:0009953", source="OMIM:266265"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017570 {source="NCIT:C4690", source="Orphanet:99843", source="linkedlifedata"} ! leukocyte adhesion deficiency
is_a: MONDO:0017749 {source="Orphanet:99843"} ! disorder of multiple glycosylation
is_a: MONDO:0018286 {source="Orphanet:99843"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="MONDO:Entailed", source="Orphanet:99843"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796132
property_value: exactMatch DOID:0070255
property_value: exactMatch http://identifiers.org/mesh/C535755
property_value: exactMatch http://identifiers.org/omim/266265
property_value: exactMatch http://identifiers.org/snomedct/234583001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398739
property_value: exactMatch NCIT:C4690
property_value: exactMatch Orphanet:99843

[Term]
id: MONDO:0009954
name: Ramon syndrome
subset: gard_rare {source="GARD:0007523"}
subset: ordo_malformation_syndrome {source="Orphanet:3019"}
synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [OMIM:266270]
synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXACT [Orphanet:3019]
synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523]
synonym: "Ramon syndrome" EXACT [OMIM:266270]
xref: GARD:0007523 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3019/attributed", source="ORDO:3019/ntbt", source="Orphanet:3019"}
xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e", source="MONDO:ontobio"}
xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e"}
xref: Orphanet:3019 {source="OMIM:266270", source="MONDO:equivalentTo"}
xref: UMLS:C0796133 {source="OMIM:266270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:3019"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019708 {source="Orphanet:3019"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C535285
property_value: exactMatch http://identifiers.org/omim/266270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796133
property_value: exactMatch Orphanet:3019
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome xsd:anyURI {source="GARD:0007523"}

[Term]
id: MONDO:0009955
name: rapadilino syndrome
def: "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." [Orphanet:3021]
subset: gard_rare {source="GARD:0004637"}
subset: ordo_malformation_syndrome {source="Orphanet:3021"}
synonym: "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" RELATED [GARD:0004637]
synonym: "radial and patellar aplasia" RELATED [GARD:0004637]
synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637]
synonym: "rapadilino syndrome" EXACT [OMIM:266280]
xref: DOID:0050774 {source="MONDO:equivalentTo"}
xref: GARD:0004637 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:3021/attributed", source="ORDO:3021/ntbt", source="Orphanet:3021"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535288 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3021/e", source="Orphanet:3021"}
xref: OMIM:266280 {source="DOID:0050774", source="MONDO:equivalentTo", source="ORDO:3021/e", source="Orphanet:3021"}
xref: Orphanet:3021 {source="MONDO:equivalentTo", source="OMIM:266280"}
xref: SCTID:702413000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1849453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3021/e", source="OMIM:266280", source="Orphanet:3021"}
is_a: MONDO:0006025 {source="DOID:0050774", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015335 {source="Orphanet:3021"} ! orofacial clefting syndrome
is_a: MONDO:0017432 {source="Orphanet:3021"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:3021", source="Orphanet:3021/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3021"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0050774
property_value: exactMatch http://identifiers.org/mesh/C535288
property_value: exactMatch http://identifiers.org/omim/266280
property_value: exactMatch http://identifiers.org/snomedct/702413000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849453
property_value: exactMatch Orphanet:3021
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome xsd:anyURI {source="GARD:0004637"}

[Term]
id: MONDO:0009956
name: red skin pigment anomaly of new guinea
subset: gard_rare {source="GARD:0009757"}
synonym: "red skin pigment anomaly of new guinea" EXACT [OMIM:266350]
synonym: "Red skin pigment, New Guinea type" RELATED [GARD:0009757]
xref: GARD:0009757 {source="MONDO:equivalentTo"}
xref: MESH:C535515 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266350 {source="MONDO:equivalentTo"}
xref: UMLS:C1849451 {source="OMIM:266350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535515
property_value: exactMatch http://identifiers.org/omim/266350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849451
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea xsd:anyURI {source="GARD:0009757"}

[Term]
id: MONDO:0009957
name: Reese retinal dysplasia
subset: gard_rare {source="GARD:0010566"}
synonym: "Reese retinal dysplasia" EXACT [OMIM:266400]
xref: GARD:0010566 {source="MONDO:equivalentTo"}
xref: MESH:C564854 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266400 {source="MONDO:equivalentTo"}
xref: UMLS:C1849450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:266400"}
is_a: MONDO:0003847 {source="MESH:C564854/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564854
property_value: exactMatch http://identifiers.org/omim/266400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849450
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia xsd:anyURI {source="GARD:0010566"}

[Term]
id: MONDO:0009958
name: adult Refsum disease
def: "Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." [Orphanet:773]
comment: Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500
subset: gard_rare {source="GARD:0005691"}
subset: ordo_disease {source="Orphanet:773"}
synonym: "classic Refsum disease" EXACT [Orphanet:773]
synonym: "disorder of cornification 11 (phytanic acid type)" RELATED [GARD:0005691]
synonym: "doc 11 (phytanic acid type)" RELATED [GARD:0005691]
synonym: "hereditary motor and sensory neuropathy 4" RELATED [OMIM:266500]
synonym: "hereditary motor and sensory neuropathy type 4" EXACT [Orphanet:773]
synonym: "hereditary sensory and motor neuropathy type 4" RELATED [GARD:0005691]
synonym: "Heredopathia atactica polyneuritiformis" EXACT [DOID:10582, MTHICD9_2006:356.3, OMIM:266500, Orphanet:773]
synonym: "HMSN 4" EXACT [OMIM:266500, Orphanet:773]
synonym: "HMSN type IV" EXACT [CSP2005:2042-7949, DOID:10582]
synonym: "HSMN IV" EXACT [DOID:10582]
synonym: "hypertrophic neuropathy of Refsum" RELATED [GARD:0005691]
synonym: "phytanic acid oxidase deficiency" RELATED [OMIM:266500]
synonym: "phytanic-CoA hydroxylase deficiency" EXACT [Orphanet:773]
synonym: "Refsum disease" EXACT [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24, Orphanet:773]
synonym: "Refsum disease, adult, 1" RELATED [OMIM:266500]
synonym: "Refsum disease, classic" RELATED [OMIM:266500]
synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM_2006:356.3]
xref: COHD:4101333 {source="MONDO:equivalentTo"}
xref: DOID:10582 {source="MONDO:equivalentTo"}
xref: GARD:0005691 {source="MONDO:equivalentTo"}
xref: ICD10:G60.1 {source="ORDO:773/specific", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:356.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10582"}
xref: MedDRA:10038275 {source="ORDO:773/e", source="Orphanet:773"}
xref: MESH:D012035 {source="MONDO:equivalentTo", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"}
xref: OMIM:266500 {source="MONDO:equivalentTo", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"}
xref: Orphanet:773 {source="MONDO:equivalentTo", source="OMIM:266500"}
xref: SCTID:25362006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.88/21.61", source="DOID:10582"}
is_a: MONDO:0016133 {source="Orphanet:773"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017265 ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017272 {source="Orphanet:773"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0017753 {source="Orphanet:773"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
is_a: MONDO:0019046 {source="Orphanet:773", source="https://rarediseases.org/rare-diseases/leukodystrophy/", source="linkedlifedata"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:773"} ! neurometabolic disease
is_a: MONDO:0020044 {source="Orphanet:773"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0020228 {source="Orphanet:773"} ! cataract associated with a metabolic disease
is_a: MONDO:0020269 {source="Orphanet:773"} ! syndromic ichthyosis associated with ocular features
is_a: MONDO:0020281 {source="Orphanet:773"} ! metabolic disease with pigmentary retinitis
disjoint_from: MONDO:0019174 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24", source="https://omim.org/entry/266500"} ! infantile Refsum disease
property_value: broadMatch NCIT:C85043
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749345
property_value: exactMatch DOID:10582
property_value: exactMatch http://identifiers.org/meddra/10038275
property_value: exactMatch http://identifiers.org/mesh/D012035
property_value: exactMatch http://identifiers.org/omim/266500
property_value: exactMatch http://identifiers.org/snomedct/25362006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034960
property_value: exactMatch Orphanet:773
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5691/refsum-disease xsd:anyURI {source="GARD:0005691"}

[Term]
id: MONDO:0009959
name: peroxisome biogenesis disorder type 3B
def: "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." [NCIT:P378]
synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444]
synonym: "infantile Refsum disease" RELATED [DOID:0050444]
synonym: "PBD3B" RELATED [MONDO:Lexical, OMIM:266510]
synonym: "peroxisome biogenesis disorder 3B" RELATED [MONDO:Lexical, OMIM:266510]
synonym: "peroxisome biogenesis disorder 3B; PBD3B" RELATED [OMIM:266510]
synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4, OMIM:266510]
xref: DOID:0050444 {source="MONDO:equivalentTo"}
xref: ICD10:G60.1 {source="DOID:0050444"}
xref: OMIM:266510 {source="DOID:0050444", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3550693
property_value: exactMatch DOID:0050444
property_value: exactMatch http://identifiers.org/omim/266510

[Term]
id: MONDO:0009960
name: inflammatory bowel disease 1
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Crohn disease" RELATED [OMIM:266600]
synonym: "Crohn disease-associated Growth failure, susceptibility to" RELATED [OMIM:266600]
synonym: "IBD1" EXACT [DOID:0110892, MONDO:Lexical, OMIM:266600]
synonym: "inflammatory bowel disease (Crohn disease) 1" RELATED [OMIM:266600]
synonym: "inflammatory bowel disease (Crohn disease) 1; IBD1" RELATED [OMIM:266600]
synonym: "inflammatory bowel disease 1" EXACT [MONDO:Lexical, OMIM:266600]
synonym: "inflammatory bowel disease 1; IBD1" RELATED [OMIM:266600]
synonym: "inflammatory bowel disease caused by mutation in NOD2" EXACT []
synonym: "inflammatory bowel disease type 1" EXACT [DOID:0110892, MONDORULE:1, OMIM:266600]
synonym: "NOD2 inflammatory bowel disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "pediatric ulcerative colitis" RELATED [GARD:0009857]
synonym: "regional enteritis" RELATED [OMIM:266600]
synonym: "ulcerative colitis" RELATED [OMIM:266600]
synonym: "ulcerative colitis, pediatric" RELATED [GARD:0009857]
xref: DOID:0110892 {source="MONDO:equivalentTo"}
xref: GARD:0009857 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:555.9 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:266600 {source="MONDO:equivalentTo", source="DOID:0110892"}
xref: SCTID:34000006 {source="MONDO:kboom-pr-0.77/0.45/0.48", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DOID:0110892", source="MONDO:Redundant", source="OMIM:266600", source="linkedlifedata"} ! inflammatory bowel disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010346
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0678202
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675113
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110892
property_value: exactMatch http://identifiers.org/omim/266600
property_value: exactMatch http://identifiers.org/snomedct/34000006

[Term]
id: MONDO:0009961
name: renal and mullerian duct hypoplasia
synonym: "renal and mullerian duct hypoplasia" EXACT [OMIM:266810]
xref: MESH:C564853 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266810 {source="MONDO:equivalentTo"}
xref: UMLS:C1849439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:266810"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564853
property_value: exactMatch http://identifiers.org/omim/266810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849439

[Term]
id: MONDO:0009962
name: Senior-Loken syndrome 1
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "juvenile nephronophthisis with Leber amaurosis" RELATED [OMIM:266900]
synonym: "Loken-Senior syndrome" RELATED [OMIM:266900]
synonym: "NPHP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal dysplasia and retinal aplasia" RELATED [OMIM:266900]
synonym: "renal-retinal syndrome" RELATED [OMIM:266900]
synonym: "Senior-Loken syndrome" RELATED [OMIM:266900]
synonym: "Senior-Loken syndrome 1" EXACT [MONDO:Lexical, OMIM:266900]
synonym: "SENIOR-Loken syndrome 1; SLSN1" RELATED [OMIM:266900]
synonym: "Senior-Loken syndrome caused by mutation in NPHP1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 1" EXACT [MONDORULE:1, OMIM:266900]
synonym: "SLSN1" RELATED [MONDO:Lexical, OMIM:266900]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:266900 {source="MONDO:equivalentTo"}
xref: SCTID:236531005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.09"}
is_a: MONDO:0017842 {source="DC-OMIM:266900", source="MONDO:Redundant", source="OMIM:266900"} ! Senior-Loken syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403553
property_value: exactMatch http://identifiers.org/omim/266900
property_value: exactMatch http://identifiers.org/snomedct/236531005

[Term]
id: MONDO:0009963
name: Ulbright-Hodes syndrome
def: "Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." [Orphanet:3404]
subset: ordo_malformation_syndrome {source="Orphanet:3404"}
synonym: "renal dysplasia limb defects syndrome" RELATED [GARD:0005394]
synonym: "renal dysplasia, mesomelia, and radiohumeral fusion" RELATED [GARD:0005394]
synonym: "renal dysplasia-limb defects syndrome" EXACT [OMIM:266910, Orphanet:3404]
synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphanet:3404]
synonym: "RL syndrome" RELATED [OMIM:266910]
synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394]
xref: GARD:0005394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3404/attributed", source="ORDO:3404/ntbt", source="Orphanet:3404"}
xref: MESH:C537754 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="ORDO:3404/e"}
xref: Orphanet:3404 {source="MONDO:equivalentTo", source="OMIM:266910"}
xref: SCTID:719840003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C1849438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3404", source="OMIM:266910"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3404", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3404"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019721 {source="Orphanet:3404"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C537754
property_value: exactMatch http://identifiers.org/omim/266910
property_value: exactMatch http://identifiers.org/snomedct/719840003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849438
property_value: exactMatch Orphanet:3404

[Term]
id: MONDO:0009964
name: short-rib thoracic dysplasia 9 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." [DOID:0110097, PMID:22503633]
subset: ordo_disease {source="Orphanet:140969"}
synonym: "Conorenal syndrome" EXACT [OMIM:266920, Orphanet:140969]
synonym: "Mainzer Saldino syndrome" EXACT [GARD:0008600]
synonym: "Mainzer-Saldino syndrome" EXACT [OMIM:266920]
synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [DOID:0110097]
synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" RELATED [OMIM:266920]
synonym: "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome" EXACT [Orphanet:140969]
synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373]
synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:266920]
synonym: "short-rib thoracic dysplasia 9 with or without polydactyly; SRTD9" EXACT [OMIM:266920]
synonym: "SRTD9" EXACT [DOID:0110097, MONDO:Lexical, OMIM:266920]
xref: DOID:0110097 {source="MONDO:equivalentTo"}
xref: GARD:0008600 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.5 {source="Orphanet:140969", source="DOID:0110097", source="ORDO:140969/attributed", source="ORDO:140969/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:266920 {source="Orphanet:140969", source="MONDO:equivalentTo", source="DOID:0110097", source="ORDO:140969/btnt"}
xref: Orphanet:140969 {source="MONDO:equivalentTo", source="OMIM:266920"}
xref: SCTID:254092004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.35/0.08"}
is_a: MONDO:0018770 {source="DOID:0110097", source="MONDO:Redundant", source="OMIM:266920", source="indirect"} ! Jeune syndrome
is_a: MONDO:0019695 {source="Orphanet:140969"} ! acromelic dysplasia
is_a: MONDO:0019741 {source="Orphanet:140969"} ! familial cystic renal disease
is_a: MONDO:0020240 {source="Orphanet:140969"} ! syndromic retinitis pigmentosa
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110097
property_value: exactMatch http://identifiers.org/mesh/C535463
property_value: exactMatch http://identifiers.org/omim/266920
property_value: exactMatch http://identifiers.org/snomedct/254092004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849437
property_value: exactMatch Orphanet:140969

[Term]
id: MONDO:0009965
name: Perlman syndrome
def: "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." [Orphanet:2849]
subset: gard_rare {source="GARD:0003936"}
subset: ordo_malformation_syndrome {source="Orphanet:2849"}
synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [DOID:0060476]
synonym: "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" RELATED [GARD:0003936]
synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [DOID:0060476]
synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [OMIM:267000]
synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" EXACT [Orphanet:2849]
synonym: "Perlman syndrome" EXACT [MONDO:Lexical, OMIM:267000]
synonym: "Perlman syndrome; PRLMNS" RELATED [OMIM:267000]
synonym: "PRLMNS" RELATED [MONDO:Lexical, OMIM:267000]
synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476]
synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000]
xref: DOID:0060476 {source="MONDO:equivalentTo"}
xref: GARD:0003936 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="DOID:0060476", source="Orphanet:2849", source="ORDO:2849/attributed", source="ORDO:2849/ntbt"}
xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C103144 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:267000 {source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849", source="ORDO:2849/e"}
xref: Orphanet:2849 {source="DOID:0060476", source="OMIM:267000", source="MONDO:equivalentTo"}
xref: SCTID:722231005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0796113 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C103144", source="NCBI:mim2gene_medline", source="OMIM:267000", source="MONDO:equivalentTo", source="Orphanet:2849"}
is_a: MONDO:0002254 {source="DOID:0060476", source="MONDO:Redundant", source="NCIT:C103144", source="indirect"} ! syndromic disease
is_a: MONDO:0015945 {source="Orphanet:2849"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017891 {source="Orphanet:2849"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome
property_value: exactMatch DOID:0060476
property_value: exactMatch http://identifiers.org/mesh/C536399
property_value: exactMatch http://identifiers.org/omim/267000
property_value: exactMatch http://identifiers.org/snomedct/722231005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796113
property_value: exactMatch NCIT:C103144
property_value: exactMatch Orphanet:2849
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome xsd:anyURI {source="GARD:0003936"}

[Term]
id: MONDO:0009966
name: NPHP3-related Meckel-like syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3032"}
synonym: "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia" RELATED [GARD:0004665]
synonym: "Goldston syndrome" EXACT [Orphanet:3032]
synonym: "Meckel syndrome 7" RELATED [GARD:0004665]
synonym: "Meckel syndrome type 7" EXACT [Orphanet:3032]
synonym: "Meckel syndrome, type 7" RELATED [MONDO:Lexical, OMIM:267010]
synonym: "Meckel syndrome, type 7; MKS7" RELATED [OMIM:267010]
synonym: "Meckel-Gruber syndrome, type 7" EXACT [DOID:0070121]
synonym: "Meckel-like syndrome type 1" EXACT [Orphanet:3032]
synonym: "MKS7" EXACT [DOID:0070121, MONDO:Lexical, OMIM:267010]
synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665]
synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OMIM:267010]
synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032]
xref: DOID:0070121 {source="MONDO:equivalentTo"}
xref: GARD:0004665 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="ORDO:3032/attributed", source="ORDO:3032/ntbt", source="Orphanet:3032"}
xref: MESH:C537756 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo", source="ORDO:3032/e", source="Orphanet:3032"}
xref: Orphanet:3032 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo"}
xref: PMID:18371931 {source="DOID:0070121"}
xref: UMLS:C2673885 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:3032/e", source="Orphanet:3032"}
is_a: MONDO:0017121 {source="Orphanet:3032"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0018921 {source="DC-OMIM:267010", source="DOID:0070121", source="OMIM:267010"} ! Meckel syndrome
property_value: exactMatch DOID:0070121
property_value: exactMatch http://identifiers.org/mesh/C537756
property_value: exactMatch http://identifiers.org/omim/267010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673885
property_value: exactMatch Orphanet:3032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia xsd:anyURI {source="GARD:0004665"}

[Term]
id: MONDO:0009967
name: renal tubular acidosis 3
synonym: "bicarbonate-wasting RTA" RELATED [GARD:0004670]
synonym: "renal tubular acidosis III" RELATED [OMIM:267200]
synonym: "renal tubular acidosis type 3" EXACT [MONDORULE:1, OMIM:267200]
synonym: "renal tubular acidosis, distal, type 3" RELATED [GARD:0004670]
synonym: "RTA, bicarbonate-wasting type" RELATED [OMIM:267200]
synonym: "RTA, dislocation type" RELATED [OMIM:267200]
xref: GARD:0004670 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537759 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267200 {source="MONDO:equivalentTo"}
is_a: MONDO:0001909 {source="DC-OMIM:267200", source="MESH:C537759", source="MONDOLEX:0009967"} ! renal tubular acidosis
is_a: MONDO:0009818 {source="MONDOLEX:0009967", source="ORDO:2785/btnt"} ! autosomal recessive osteopetrosis 3
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849435
property_value: exactMatch http://identifiers.org/mesh/C537759
property_value: exactMatch http://identifiers.org/omim/267200

[Term]
id: MONDO:0009968
name: renal tubular acidosis, distal, with progressive nerve deafness
synonym: "AR dRTA with hearing loss" RELATED [GARD:0004666]
synonym: "AR dRTA wth deafness" RELATED [GARD:0004666]
synonym: "autosomal recessive distal renal tubular acidosis with deafness" RELATED [GARD:0004666]
synonym: "autosomal recessive distal renal tubular acidosis with hearing loss" RELATED [GARD:0004666]
synonym: "distal renal tubular acidosis co-occurrent with sensorineural deafness" EXACT []
synonym: "renal tubular acidosis progressive nerve deafness" RELATED [GARD:0004666]
synonym: "renal tubular acidosis type 1b" RELATED [GARD:0004666]
synonym: "renal tubular acidosis with deafness" RELATED [GARD:0004666]
synonym: "renal tubular acidosis with progressive nerve deafness" RELATED [OMIM:267300]
synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" RELATED [OMIM:267300]
synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [OMIM:267300]
synonym: "RTA with progressive nerve deafness" RELATED [OMIM:267300]
xref: GARD:0004666 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:389.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562897 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267300 {source="MONDO:equivalentTo"}
xref: Orphanet:93611 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:236532003 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo"}
xref: SCTID:722468005 {source="MONDO:equivalentTo"}
xref: UMLS:C0403554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267300"}
xref: UMLS:C4302514 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0018440 {source="MONDOLEX:0009968", source="ORDO:402041/btnt"} ! autosomal recessive distal renal tubular acidosis
property_value: exactMatch http://identifiers.org/mesh/C562897
property_value: exactMatch http://identifiers.org/omim/267300
property_value: exactMatch http://identifiers.org/snomedct/236532003
property_value: exactMatch http://identifiers.org/snomedct/722468005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302514
property_value: exactMatch Orphanet:93611

[Term]
id: MONDO:0009969
name: renal-genital-middle ear anomalies
subset: gard_rare {source="GARD:0004664"}
subset: ordo_malformation_syndrome {source="Orphanet:1092"}
synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664]
synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400]
xref: GARD:0004664 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1092/attributed", source="ORDO:1092/ntbt", source="Orphanet:1092"}
xref: MESH:C564849 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267400 {source="MONDO:equivalentTo", source="ORDO:1092/e", source="Orphanet:1092"}
xref: Orphanet:1092 {source="MONDO:equivalentTo", source="OMIM:267400"}
xref: UMLS:C1849432 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267400", source="Orphanet:1092"}
is_a: MONDO:0015161 {source="Orphanet:1092"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019721 {source="Orphanet:1092"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C564849
property_value: exactMatch http://identifiers.org/omim/267400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849432
property_value: exactMatch Orphanet:1092
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies xsd:anyURI {source="GARD:0004664"}

[Term]
id: MONDO:0009970
name: renal tubular dysgenesis of genetic origin
def: "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_etiological_subtype {source="Orphanet:97369"}
synonym: "genetic renal tubular dysgenesis" EXACT [MONDO:patterns/genetic]
synonym: "primitive renal tubule syndrome" RELATED [OMIM:267430]
synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430]
synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430]
synonym: "renal tubular dysgenesis; RTD" RELATED [OMIM:267430]
synonym: "RTD" RELATED [MONDO:Lexical, OMIM:267430]
xref: ICD10:Q63.8 {source="Orphanet:97369", source="ORDO:97369/attributed", source="ORDO:97369/ntbt"}
xref: OMIM:267430 {source="ORDO:97369/e", source="Orphanet:97369", source="MONDO:equivalentTo"}
xref: Orphanet:97369 {source="OMIM:267430", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97369"} ! renal tubular dysgenesis
intersection_of: MONDO:0017609 ! renal tubular dysgenesis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678367
property_value: exactMatch http://identifiers.org/omim/267430
property_value: exactMatch Orphanet:97369

[Term]
id: MONDO:0009971
name: newborn respiratory distress syndrome
def: "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." [Orphanet:70587]
subset: gard_rare
subset: ordo_disease {source="Orphanet:70587"}
synonym: "HMD - hyaline membrane disease" EXACT [DOID:12716]
synonym: "hyaline Membrane disease" RELATED [OMIM:267450]
synonym: "hyaline membrane disease" EXACT [CSP2005:0726-3340, DOID:12716, Orphanet:70587]
synonym: "hyaline Membrane disease, formerly" RELATED [OMIM:267450]
synonym: "infant acute respiratory distress syndrome" EXACT [Orphanet:70587]
synonym: "infant acute respiratory distress syndrome" RELATED [Orphanet:70587]
synonym: "infant ARDS" EXACT [Orphanet:70587]
synonym: "infant respiratory distress syndrome" EXACT [Orphanet:70587]
synonym: "infantile respiratory distress syndrome" RELATED [GARD:0000112]
synonym: "IRDS" RELATED [GARD:0000112]
synonym: "neonatal respiratory distress" EXACT [NCIT:C27560]
synonym: "neonatal respiratory distress syndrome" EXACT [DOID:12716, GARD:0000112, NCIT:C27560, Orphanet:70587]
synonym: "newborns (RDS), respiratory distress syndrome Of" EXACT [NCIT:C27560]
synonym: "NRDS" RELATED [GARD:0000112]
synonym: "pulmonary hyaline membrane disease" EXACT [DOID:12716, MTHICD9_2006:769]
synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [DOID:12716]
synonym: "RDS" BROAD [NCIT:C27560]
synonym: "RDS - infants" RELATED [GARD:0000112]
synonym: "RDS Of newborns" EXACT [NCIT:C27560]
synonym: "RDS of prematurity" RELATED [OMIM:267450]
synonym: "RDS, respiratory distress syndrome Of newborns" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome" BROAD [NCIT:C27560]
synonym: "respiratory distress syndrome in premature infants" RELATED [OMIM:267450]
synonym: "respiratory distress syndrome in the newborn" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome of newborn" EXACT [DOID:12716]
synonym: "respiratory distress syndrome Of newborns" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome Of newborns (RDS)" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112]
synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [NCIT:C27560]
xref: DOID:12716 {source="MONDO:equivalentTo", source="EFO:1000644"}
xref: EFO:1000644 {source="MONDO:equivalentTo"}
xref: GARD:0000112 {source="MONDO:equivalentTo"}
xref: ICD10:P22.0 {source="ORDO:70587/e", source="Orphanet:70587", source="DOID:12716"}
xref: ICD9:769 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27560 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:267450 {source="ORDO:70587/e", source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="EFO:1000644"}
xref: Orphanet:70587 {source="OMIM:267450", source="MONDO:equivalentTo"}
xref: SCTID:46775006 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo", source="DOID:12716"}
xref: UMLS:C0020192 {source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:C0035220 {source="NCIT:C27560", source="MONDO:equivalentTo", source="Orphanet:70587", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C1968593 {source="OMIM:267450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017016 {source="Orphanet:70587"} ! primary interstitial lung disease specific to childhood due to alveolar structure disorder
is_a: MONDO:0100131 ! pediatric acute respiratory distress syndrome
relationship: excluded_subClassOf MONDO:0001208 {source="DOID:12716"} ! acute respiratory failure
property_value: closeMatch http://identifiers.org/mesh/D006819
property_value: closeMatch http://identifiers.org/snomedct/206281003
property_value: closeMatch http://identifiers.org/snomedct/26168007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0852283
property_value: exactMatch DOID:12716
property_value: exactMatch http://identifiers.org/omim/267450
property_value: exactMatch http://identifiers.org/snomedct/46775006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968593
property_value: exactMatch NCIT:C27560
property_value: exactMatch Orphanet:70587

[Term]
id: MONDO:0009972
name: respiratory underresponsiveness to hypoxia and hypercapnia
synonym: "respiratory underresponsiveness to hypoxia and hypercapnia" EXACT [OMIM:267480]
xref: MESH:C564848 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267480 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849430
property_value: exactMatch http://identifiers.org/mesh/C564848
property_value: exactMatch http://identifiers.org/omim/267480

[Term]
id: MONDO:0009973
name: reticular dysgenesis
def: "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." [Orphanet:33355]
subset: gard_rare {source="GARD:0008625"}
subset: ordo_disease {source="Orphanet:33355"}
synonym: "AK2 deficiency" EXACT [Orphanet:33355]
synonym: "aleukocytosis" RELATED [DOID:0060020, OMIM:267500]
synonym: "congenital Aleukia" RELATED [OMIM:267500]
synonym: "congenital aleukocytosis" EXACT [Orphanet:33355]
synonym: "De Vaal disease" EXACT [DOID:0060020, OMIM:267500, Orphanet:33355]
synonym: "DeVaal disease" RELATED [GARD:0008625]
synonym: "generalized hematopoietic hypoplasia" EXACT [Orphanet:33355]
synonym: "hematopoietic hypoplasia, generalized" RELATED [OMIM:267500]
synonym: "RD" RELATED [GARD:0008625]
synonym: "reticular Dysgenesia" RELATED [OMIM:267500]
synonym: "reticular dysgenesis" EXACT [OMIM:267500]
synonym: "SCID with leukopenia" EXACT [Orphanet:33355]
synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355]
xref: DOID:0060020 {source="MONDO:equivalentTo"}
xref: GARD:0008625 {source="MONDO:equivalentTo"}
xref: ICD10:D81.0 {source="ORDO:33355/specific", source="ORDO:33355/e", source="Orphanet:33355"}
xref: MESH:C538361 {source="MONDO:equivalentTo", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"}
xref: NCIT:C27070 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060020"}
xref: OMIM:267500 {source="MONDO:equivalentTo", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"}
xref: Orphanet:33355 {source="MONDO:equivalentTo", source="OMIM:267500"}
xref: SCTID:111584000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.75/2.51", source="DOID:0060020"}
xref: UMLS:C0272167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267500", source="NCIT:C27070", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"}
is_a: MONDO:0017855 {source="Orphanet:33355"} ! T-B- severe combined immunodeficiency
property_value: exactMatch DOID:0060020
property_value: exactMatch http://identifiers.org/mesh/C538361
property_value: exactMatch http://identifiers.org/omim/267500
property_value: exactMatch http://identifiers.org/snomedct/111584000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282908
property_value: exactMatch NCIT:C27070
property_value: exactMatch Orphanet:33355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis xsd:anyURI {source="GARD:0008625"}

[Term]
id: MONDO:0009974
name: familial hemophagocytic lymphohistiocytosis type 1
def: "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth." [Orphanet:540]
comment: Editor note: type 1 split out
subset: ordo_disease {source="Orphanet:540"}
subset: prototype_pattern
synonym: "Erythrophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700]
synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [NCIT:C61276]
synonym: "familial hemophagocytic lymphohistiocytosis" RELATED [NCIT:C61276]
synonym: "familial hemophagocytic lymphohistiocytosis 1" RELATED [DOID:0110921]
synonym: "familial hemophagocytic lymphohistiocytosis type 1" EXACT [DOID:0110921, MONDORULE:1]
synonym: "familial HLH" EXACT [Orphanet:540]
synonym: "FHL1" EXACT [DOID:0110921, MONDO:Lexical, OMIM:267700]
synonym: "hemophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700]
synonym: "hemophagocytic lymphohistiocytosis, familial, 1" RELATED [MONDO:Lexical, OMIM:267700]
synonym: "hemophagocytic lymphohistiocytosis, familial, 1; FHL1" RELATED [OMIM:267700]
synonym: "hemophagocytic reticulosis, familial" RELATED [OMIM:267700]
synonym: "HLH1" EXACT [DOID:0110921]
synonym: "Hlh1" RELATED [OMIM:267700]
synonym: "HPLH1" EXACT [DOID:0110921]
synonym: "Hplh1" RELATED [OMIM:267700]
synonym: "reticulosis, familial histiocytic" RELATED [OMIM:267700]
xref: DOID:0110921 {source="MONDO:equivalentTo"}
xref: ICD10:D76.1 {source="ORDO:540/attributed", source="ORDO:540/ntbt", source="Orphanet:540"}
xref: MedDRA:10070904 {source="ORDO:540/e", source="Orphanet:540"}
xref: NCIT:C61276 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: OMIM:267700 {source="DOID:0110921", source="MONDO:equivalentTo", source="ORDO:540/e", source="Orphanet:540"}
xref: Orphanet:540 {source="MONDO:equivalentTo", source="OMIM:267700"}
xref: UMLS:C0272199 {source="MONDO:equivalentTo", source="OMIM:267700", source="ORDO:540/e", source="Orphanet:540", source="NCIT:C61276"}
xref: UMLS:CN034020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN205265 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015144 {source="Orphanet:540"} ! brain inflammatory disease
is_a: MONDO:0015541 {source="MONDO:Entailed", source="MONDOLEX:0009974", source="OMIM:267700", source="Orphanet:540"} ! genetic hemophagocytic lymphohistiocytosis
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0110921
property_value: exactMatch http://identifiers.org/meddra/10070904
property_value: exactMatch http://identifiers.org/omim/267700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205265
property_value: exactMatch NCIT:C61276
property_value: exactMatch Orphanet:540

[Term]
id: MONDO:0009975
name: reticulum cell sarcoma
def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." [NCIT:C27824]
comment: Editor note: check this
subset: ordo_disease {source="Orphanet:86900"}
synonym: "histiocytic lymphoma" EXACT [CSP2005:2004-7036, DOID:8538]
synonym: "interdigitating cell sarcoma" EXACT [Orphanet:86900]
synonym: "large-cell Lymphomas" EXACT [DOID:8538, MTH:NOCODE]
synonym: "reticular cell sarcoma" EXACT [MONDO:patterns/location]
synonym: "reticulosarcoma" EXACT [DOID:8538, NCIT:C27824]
synonym: "Reticulum cell sarcoma" EXACT [Orphanet:86900]
synonym: "reticulum cell sarcoma" EXACT [OMIM:267730]
synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"}
xref: EFO:0005287 {source="MONDO:equivalentTo"}
xref: ICD10:C96.4 {source="ORDO:86900/ntbt", source="Orphanet:86900"}
xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"}
xref: ICD9:200.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:200.7 {source="DOID:8538"}
xref: MedDRA:10038804 {source="ORDO:86900/e", source="Orphanet:86900"}
xref: NCIT:C27824 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"}
xref: OMIM:267730 {source="DOID:8538", source="ORDO:86900/e", source="MONDO:equivalentTo", source="Orphanet:86900"}
xref: Orphanet:86900 {source="MONDO:equivalentTo", source="OMIM:267730"}
xref: SCTID:373168002 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287", source="MONDO:kboom-pr-0.84/0.45/1.29"}
is_a: MONDO:0000612 {source="DOID:8538"} ! lymphatic system cancer
is_a: MONDO:0005089 {source="EFO:0005287"} ! sarcoma
is_a: MONDO:0020082 {source="Orphanet:86900"} ! dendritic cell tumor
property_value: closeMatch http://identifiers.org/snomedct/118604003
property_value: closeMatch http://identifiers.org/snomedct/154579006
property_value: closeMatch http://identifiers.org/snomedct/188488003
property_value: closeMatch http://identifiers.org/snomedct/188497004
property_value: closeMatch http://identifiers.org/snomedct/189982000
property_value: closeMatch http://identifiers.org/snomedct/189983005
property_value: closeMatch http://identifiers.org/snomedct/189986002
property_value: closeMatch http://identifiers.org/snomedct/190012002
property_value: closeMatch http://identifiers.org/snomedct/40152000
property_value: exactMatch DOID:8538
property_value: exactMatch http://identifiers.org/meddra/10038804
property_value: exactMatch http://identifiers.org/mesh/D054739
property_value: exactMatch http://identifiers.org/omim/267730
property_value: exactMatch http://identifiers.org/snomedct/373168002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260326
property_value: exactMatch NCIT:C27824
property_value: exactMatch Orphanet:86900

[Term]
id: MONDO:0009976
name: retinal degeneration and epilepsy
synonym: "retinal degeneration and epilepsy" EXACT [OMIM:267740]
xref: MESH:C564847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267740 {source="MONDO:equivalentTo"}
xref: UMLS:C1849416 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267740"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564847
property_value: exactMatch http://identifiers.org/omim/267740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849416

[Term]
id: MONDO:0009977
name: Knobloch syndrome
def: "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." [Orphanet:1571]
subset: gard_rare {source="GARD:0000380"}
subset: ordo_malformation_syndrome {source="Orphanet:1571"}
synonym: "Kno" RELATED [OMIM:267750]
synonym: "KNO1" RELATED [MONDO:Lexical, OMIM:267750]
synonym: "KNOBLOCH syndrome 1" RELATED [MONDO:Lexical, OMIM:267750]
synonym: "KNOBLOCH syndrome 1; KNO1" RELATED [OMIM:267750]
synonym: "Knobloch syndrome type 1" EXACT [MONDORULE:1, OMIM:267750]
synonym: "Knobloch-Layer syndrome" EXACT [Orphanet:1571]
synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380]
synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750]
synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571]
xref: GARD:0000380 {source="MONDO:equivalentTo"}
xref: ICD10:Q15.8 {source="Orphanet:1571", source="ORDO:1571/attributed", source="ORDO:1571/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1571/e"}
xref: OMIM:267750 {source="Orphanet:1571", source="MONDO:equivalentTo", source="ORDO:1571/e"}
xref: Orphanet:1571 {source="MONDO:equivalentTo", source="OMIM:267750"}
xref: SCTID:703542000 {source="MONDO:kboom-pr-1.00/0.80/9.05", source="MONDO:equivalentTo"}
xref: UMLS:C1849409 {source="Orphanet:1571", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267750", source="ORDO:1571/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:1571"} ! syndromic developmental defect of the eye
is_a: MONDO:0020248 {source="Orphanet:1571", source="linkedlifedata"} ! vitreoretinal degeneration
property_value: exactMatch http://identifiers.org/mesh/C537209
property_value: exactMatch http://identifiers.org/omim/267750
property_value: exactMatch http://identifiers.org/snomedct/703542000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849409
property_value: exactMatch Orphanet:1571
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome xsd:anyURI {source="GARD:0000380"}

[Term]
id: MONDO:0009978
name: retinal degeneration-nanophthalmos-glaucoma syndrome
def: "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." [Orphanet:1574]
subset: ordo_malformation_syndrome {source="Orphanet:1574"}
synonym: "MacKay Shek Carr syndrome" RELATED [GARD:0000395]
synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574]
synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760]
synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395]
xref: GARD:0000395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H35.5 {source="Orphanet:1574", source="ORDO:1574/attributed", source="ORDO:1574/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C538364 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267760 {source="Orphanet:1574", source="ORDO:1574/e", source="MONDO:equivalentTo"}
xref: Orphanet:1574 {source="OMIM:267760", source="MONDO:equivalentTo"}
xref: SCTID:723503006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931831 {source="Orphanet:1574", source="OMIM:267760", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:1574"} ! inherited retinal dystrophy
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1574"} ! non-syndromic developmental defect of the eye
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849408
property_value: exactMatch http://identifiers.org/mesh/C538364
property_value: exactMatch http://identifiers.org/omim/267760
property_value: exactMatch http://identifiers.org/snomedct/723503006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931831
property_value: exactMatch Orphanet:1574

[Term]
id: MONDO:0009979
name: reticular dystrophy of the retinal pigment epithelium
def: "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium (see this term), of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." [Orphanet:99002]
subset: ordo_disease {source="Orphanet:99002"}
synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [OMIM:267800]
xref: ICD10:H35.5 {source="ORDO:99002/attributed", source="ORDO:99002/ntbt", source="MONDO:relatedTo", source="Orphanet:99002"}
xref: MESH:C564844 {source="MONDO:equivalentTo"}
xref: OMIM:267800 {source="MONDO:equivalentTo", source="ORDO:99002/e", source="Orphanet:99002"}
xref: Orphanet:99002 {source="MONDO:equivalentTo", source="OMIM:267800"}
is_a: MONDO:0018973 {source="Orphanet:99002"} ! patterned dystrophy of the retinal pigment epithelium
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849407
property_value: exactMatch http://identifiers.org/mesh/C564844
property_value: exactMatch http://identifiers.org/omim/267800
property_value: exactMatch Orphanet:99002

[Term]
id: MONDO:0009980
name: retinal telangiectasia and hypogammaglobulinemia
synonym: "Frenkel Russe syndrome" RELATED [GARD:0002383]
synonym: "retinal telangiectasia and hypogammaglobulinemia" EXACT [OMIM:267900]
synonym: "retinal telangiectasia associated with hypogammaglobulinemia" RELATED [GARD:0002383]
xref: GARD:0002383 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535638 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:267900 {source="MONDO:equivalentTo"}
xref: UMLS:C2930961 {source="MONDO:equivalentTo", source="OMIM:267900"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849406
property_value: exactMatch http://identifiers.org/mesh/C535638
property_value: exactMatch http://identifiers.org/omim/267900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930961

[Term]
id: MONDO:0009981
name: obsolete retinitis pigmentosa type 1
is_obsolete: true
replaced_by: MONDO:0008377

[Term]
id: MONDO:0009982
name: retinitis pigmentosa inversa with deafness
synonym: "retinitis pigmentosa inversa with deafness" EXACT [OMIM:268010]
xref: MESH:C564842 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268010 {source="MONDO:equivalentTo"}
xref: UMLS:C1849405 {source="OMIM:268010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564842/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564842
property_value: exactMatch http://identifiers.org/omim/268010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849405

[Term]
id: MONDO:0009983
name: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
def: "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." [Orphanet:3085]
subset: ordo_malformation_syndrome {source="Orphanet:3085"}
synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED [OMIM:268020]
synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" RELATED [OMIM:268020]
synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" EXACT [Orphanet:3085]
synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085]
synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085]
xref: GARD:0004683 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3085/attributed", source="ORDO:3085/ntbt", source="Orphanet:3085"}
xref: MESH:C564841 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268020 {source="MONDO:equivalentTo", source="ORDO:3085/e", source="Orphanet:3085"}
xref: Orphanet:3085 {source="OMIM:268020", source="MONDO:equivalentTo"}
xref: UMLS:C1849401 {source="OMIM:268020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3085"}
is_a: MONDO:0019589 {source="Orphanet:3085"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:3085"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C564841
property_value: exactMatch http://identifiers.org/omim/268020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849401
property_value: exactMatch Orphanet:3085

[Term]
id: MONDO:0009984
name: late-adult onset retinitis pigmentosa
def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." [DOID:0110421, PMID:1424244]
synonym: "retinitis pigmentosa, 'Senile'" RELATED [OMIM:268025]
synonym: "retinitis pigmentosa, late-ADULT onset" RELATED [OMIM:268025]
synonym: "senile retinitis pigmentosa" EXACT [DOID:0110421]
xref: DOID:0110421 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110421"}
xref: MESH:C564840 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268025 {source="MONDO:equivalentTo", source="DOID:0110421"}
xref: UMLS:C1849400 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268025"}
is_a: MONDO:0019200 {source="DC-OMIM:268025", source="DOID:0110421", source="MESH:C564840"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110421
property_value: exactMatch http://identifiers.org/mesh/C564840
property_value: exactMatch http://identifiers.org/omim/268025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849400

[Term]
id: MONDO:0009985
name: retinohepatoendocrinologic syndrome
def: "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." [Orphanet:3087]
subset: gard_rare {source="GARD:0004685"}
subset: ordo_malformation_syndrome {source="Orphanet:3087"}
synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040]
synonym: "rhe syndrome" RELATED [OMIM:268040]
xref: GARD:0004685 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3087/attributed", source="ORDO:3087/ntbt", source="Orphanet:3087"}
xref: MESH:C564839 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268040 {source="MONDO:equivalentTo", source="ORDO:3087/e", source="Orphanet:3087"}
xref: Orphanet:3087 {source="MONDO:equivalentTo", source="OMIM:268040"}
xref: SCTID:724000006 {source="MONDO:equivalentTo"}
xref: UMLS:C1849399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268040", source="Orphanet:3087"}
is_a: MONDO:0015126 {source="Orphanet:3087"} ! polyendocrinopathy
property_value: exactMatch http://identifiers.org/mesh/C564839
property_value: exactMatch http://identifiers.org/omim/268040
property_value: exactMatch http://identifiers.org/snomedct/724000006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849399
property_value: exactMatch Orphanet:3087
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome xsd:anyURI {source="GARD:0004685"}

[Term]
id: MONDO:0009986
name: retinopathy, pigmentary, and mental retardation
synonym: "Mirhosseini-Holmes-Walton syndrome" RELATED [OMIM:268050]
synonym: "retinal pigmentary degeneration, microcephaly, and severe mental retardation" RELATED [GARD:0004688]
synonym: "retinopathy pigmentary mental retardation" RELATED [GARD:0004688]
synonym: "retinopathy, pigmentary, and mental retardation" EXACT [OMIM:268050]
xref: GARD:0004688 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538367 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268050 {source="MONDO:equivalentTo"}
xref: Orphanet:3084 {source="MONDO:equivalentTo", source="OMIM:268050"}
is_a: MONDO:0003847 {source="MESH:C538367/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796072
property_value: exactMatch http://identifiers.org/mesh/C538367
property_value: exactMatch http://identifiers.org/omim/268050
property_value: exactMatch Orphanet:3084

[Term]
id: MONDO:0009987
name: autosomal recessive pericentral pigmentary retinopathy
def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." [DOID:0110422, PMID:3189470]
synonym: "retinitis pigmentosa, pericentral" RELATED [OMIM:268060]
synonym: "retinopathy, pericentral pigmentary, autosomal recessive" RELATED [OMIM:268060]
xref: DOID:0110422 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110422"}
xref: MESH:C564838 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268060 {source="MONDO:equivalentTo", source="DOID:0110422"}
xref: UMLS:C1849398 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268060"}
is_a: MONDO:0019200 {source="DOID:0110422", source="MESH:C564838"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110422
property_value: exactMatch http://identifiers.org/mesh/C564838
property_value: exactMatch http://identifiers.org/omim/268060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849398

[Term]
id: MONDO:0009988
name: retinoschisis of fovea
subset: gard_rare {source="GARD:0009143"}
synonym: "familial foveal retinoschisis" RELATED [GARD:0009143]
synonym: "foveal retinoschisis" RELATED [GARD:0009143]
synonym: "retinoschisis of fovea" EXACT [OMIM:268080]
xref: GARD:0009143 {source="MONDO:equivalentTo"}
xref: MESH:C538369 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268080 {source="MONDO:equivalentTo"}
xref: UMLS:C1849397 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268080"}
is_a: MONDO:0004579 {source="DC-OMIM:268080", source="MESH:C538369"} ! retinoschisis
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C538369
property_value: exactMatch http://identifiers.org/omim/268080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea xsd:anyURI {source="GARD:0009143"}

[Term]
id: MONDO:0009989
name: enhanced S-cone syndrome
def: "Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." [Orphanet:53540]
subset: ordo_disease {source="Orphanet:53540"}
synonym: "enhanced S-cone syndrome" EXACT [MONDO:Lexical, OMIM:268100, Orphanet:53540]
synonym: "enhanced S-cone syndrome; ESCS" RELATED [OMIM:268100]
synonym: "ESCS" RELATED [MONDO:Lexical, OMIM:268100]
synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100]
synonym: "Goldmann-Favre syndrome" RELATED [OMIM:268100]
synonym: "retinoschisis with early hemeralopia" RELATED [OMIM:268100]
synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540]
xref: DOID:0090059 {source="MONDO:equivalentTo"}
xref: GARD:0010781 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:53540/attributed", source="ORDO:53540/ntbt", source="Orphanet:53540"}
xref: MESH:C564835 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268100 {source="MONDO:equivalentTo", source="DOID:0090059", source="ORDO:53540/e", source="Orphanet:53540"}
xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"}
xref: SCTID:232065000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C1849394 {source="NCBI:mim2gene_medline", source="OMIM:268100", source="MONDO:equivalentTo", source="Orphanet:53540"}
is_a: MONDO:0020244 {source="Orphanet:53540"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration
property_value: exactMatch DOID:0090059
property_value: exactMatch http://identifiers.org/mesh/C564835
property_value: exactMatch http://identifiers.org/omim/268100
property_value: exactMatch http://identifiers.org/snomedct/232065000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849394
property_value: exactMatch Orphanet:53540

[Term]
id: MONDO:0009990
name: Revesz syndrome
def: "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." [Orphanet:3088]
subset: gard_rare {source="GARD:0004695"}
subset: ordo_malformation_syndrome {source="Orphanet:3088"}
synonym: "DKCA5" EXACT [DOID:0070026]
synonym: "dyskeratosis congenita with bilateral exudative retinopathy" EXACT [Orphanet:3088]
synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [DOID:0070026, OMIM:268130]
synonym: "exudative retinopathy with bone marrow failure" EXACT [DOID:0070026, OMIM:268130]
synonym: "retinopathy-anemia-central nervous system anomalies syndrome" EXACT [Orphanet:3088]
synonym: "Revesz syndrome" EXACT [OMIM:268130]
synonym: "Revesz-DeBuse syndrome" EXACT [Orphanet:3088]
xref: DOID:0070026 {source="MONDO:equivalentTo"}
xref: GARD:0004695 {source="MONDO:equivalentTo"}
xref: MESH:C538371 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C152064 {source="MONDO:equivalentTo"}
xref: OMIM:268130 {source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088", source="ORDO:3088/e"}
xref: Orphanet:3088 {source="OMIM:268130", source="MONDO:equivalentTo"}
xref: SCTID:723512008 {source="MONDO:equivalentTo"}
xref: UMLS:C1327916 {source="OMIM:268130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3088"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015780 {source="DC-OMIM:268130", source="DOID:0070026", source="OMIM:268130"} ! dyskeratosis congenita
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! inherited retinal dystrophy
property_value: exactMatch DOID:0070026
property_value: exactMatch http://identifiers.org/mesh/C538371
property_value: exactMatch http://identifiers.org/omim/268130
property_value: exactMatch http://identifiers.org/snomedct/723512008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327916
property_value: exactMatch NCIT:C152064
property_value: exactMatch Orphanet:3088
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome xsd:anyURI {source="GARD:0004695"}

[Term]
id: MONDO:0009991
name: obsolete Rh deficiency syndrome
is_obsolete: true
replaced_by: MONDO:0019107

[Term]
id: MONDO:0009992
name: myoglobinuria, acute recurrent, autosomal recessive
synonym: "myoglobinuria, acute recurrent, autosomal recessive" EXACT [OMIM:268200]
synonym: "myoglobinuria, familial paroxysmal paralytic" RELATED [OMIM:268200]
synonym: "rhabdomyolysis, acute recurrent" RELATED [OMIM:268200]
xref: MESH:C564832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268200 {source="MONDO:equivalentTo"}
xref: UMLS:C1849386 {source="OMIM:268200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000866 {source="DC-OMIM:268200", source="MESH:C564832"} ! myoglobinuria
is_a: MONDO:0020504 {source="ORDO:99845/btnt"} ! genetic recurrent myoglobinuria
property_value: exactMatch http://identifiers.org/mesh/C564832
property_value: exactMatch http://identifiers.org/omim/268200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849386

[Term]
id: MONDO:0009993
name: embryonal rhabdomyosarcoma (disease)
def: "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:99757"}
synonym: "botryoid rhabdomyosarcoma (type of ERMS)" RELATED [GARD:0004702]
synonym: "embryonal rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C8971]
synonym: "ERMS" EXACT [NCIT:C8971]
synonym: "rhabdomyosarcoma 1" RELATED [OMIM:268210]
synonym: "rhabdomyosarcoma chromosomal region" RELATED [OMIM:268210]
synonym: "rhabdomyosarcoma embryonal" RELATED [GARD:0004702]
synonym: "rhabdomyosarcoma, embryonal, 1" RELATED [MONDO:Lexical, OMIM:268210]
synonym: "rhabdomyosarcoma, embryonal, 1; RMSE1" RELATED [OMIM:268210]
synonym: "rhabdomyosarcoma, embryonal, type 1" EXACT [MONDORULE:1, OMIM:268210]
synonym: "RMSE1" RELATED [MONDO:Lexical, OMIM:268210]
synonym: "spindle cell rhabdomyosarcomas (type of ERMS)" RELATED [GARD:0004702]
xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"}
xref: EFO:0000437 {source="MONDO:equivalentTo"}
xref: GARD:0004702 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0006743 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="Orphanet:99757", source="ORDO:99757/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8910/3 {source="NCIT:C8971"}
xref: MedDRA:10065868 {source="ORDO:99757/e", source="Orphanet:99757"}
xref: NCIT:C8971 {source="DOID:3246", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11", source="EFO:0000437"}
xref: OMIM:268210 {source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"}
xref: ONCOTREE:ERMS {source="MONDO:equivalentTo"}
xref: Orphanet:99757 {source="DOID:3246", source="OMIM:268210", source="MONDO:equivalentTo"}
xref: SCTID:404051002 {source="DOID:3246", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000437"}
xref: UMLS:C0206656 {source="NCIT:C8971", source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo"}
is_a: MONDO:0005212 {source="DC-OMIM:268210", source="DOID:3246", source="EFO:0000437", source="NCIT:C8971", source="ONCOTREE:ERMS", source="Orphanet:99757", source="linkedlifedata"} ! rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/omim/180295
property_value: closeMatch http://identifiers.org/snomedct/14269005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849385
property_value: exactMatch DOID:3246
property_value: exactMatch http://identifiers.org/meddra/10065868
property_value: exactMatch http://identifiers.org/mesh/D018233
property_value: exactMatch http://identifiers.org/omim/268210
property_value: exactMatch http://identifiers.org/snomedct/404051002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206656
property_value: exactMatch NCIT:C8971
property_value: exactMatch Orphanet:99757

[Term]
id: MONDO:0009994
name: alveolar rhabdomyosarcoma (disease)
def: "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:99756"}
synonym: "alveolar childhood rhabdomyosarcoma" EXACT [DOID:4051]
synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, MONDO:ambiguous, NCIT:C3749]
synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:4051]
synonym: "arms" EXACT [NCIT:C3749]
synonym: "monomorphous round cell rhabdomyosarcoma" EXACT [NCIT:C3749]
synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [DOID:4051, NCIT:C7958]
synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical, OMIM:268220]
synonym: "rhabdomyosarcoma 2; RMS2" RELATED [OMIM:268220]
synonym: "rhabdomyosarcoma alveolar" RELATED [GARD:0004701]
synonym: "rhabdomyosarcoma type 2" EXACT [MONDORULE:1, OMIM:268220]
synonym: "rhabdomyosarcoma, alveolar" RELATED [OMIM:268220]
synonym: "RMS2" RELATED [MONDO:Lexical, OMIM:268220]
xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"}
xref: EFO:0000248 {source="MONDO:equivalentTo"}
xref: GARD:0004701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0006779 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="Orphanet:99756", source="ORDO:99756/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8920/3 {source="NCIT:C3749"}
xref: MedDRA:10065867 {source="ORDO:99756/e", source="Orphanet:99756"}
xref: MESH:D018232 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="MONDO:ontobio"}
xref: NCIT:C3749 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"}
xref: OMIM:268220 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"}
xref: ONCOTREE:ARMS {source="MONDO:equivalentTo"}
xref: Orphanet:99756 {source="OMIM:268220", source="MONDO:equivalentTo"}
xref: SCTID:404053004 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206655 {source="NCIT:C3749", source="ORDO:99756/e", source="OMIM:268220", source="NCBI:mim2gene_medline", source="Orphanet:99756", source="MONDO:equivalentTo", source="DOID:4051"}
is_a: MONDO:0005212 {source="DC-OMIM:268220", source="DOID:4051", source="EFO:0000248", source="MESH:D018232", source="NCIT:C3749", source="ONCOTREE:ARMS", source="Orphanet:99756", source="linkedlifedata"} ! rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/63449009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279613
property_value: closeMatch NCIT:C7958
property_value: exactMatch DOID:4051
property_value: exactMatch http://identifiers.org/meddra/10065867
property_value: exactMatch http://identifiers.org/mesh/D018232
property_value: exactMatch http://identifiers.org/omim/268220
property_value: exactMatch http://identifiers.org/snomedct/404053004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206655
property_value: exactMatch NCIT:C3749
property_value: exactMatch Orphanet:99756

[Term]
id: MONDO:0009995
name: obsolete rheumatic fever-related antigen
synonym: "rheumatic fever, acute, susceptibility to" RELATED [OMIM:268240]
synonym: "rheumatic fever-related antigen" EXACT [OMIM:268240]
xref: OMIM:268240 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849383
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849384
property_value: exactMatch http://identifiers.org/omim/268240
is_obsolete: true
consider: MONDO:0017767 {source="ORDO:3099/btnt"}

[Term]
id: MONDO:0009996
name: rhizomelic syndrome, Urbach type
def: "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." [Orphanet:3098]
subset: ordo_malformation_syndrome {source="Orphanet:3098"}
synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705]
synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250]
synonym: "rhizomelic syndrome" RELATED [OMIM:268250]
xref: GARD:0004705 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:3098/attributed", source="ORDO:3098/ntbt", source="Orphanet:3098"}
xref: MESH:C537611 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3098/e", source="Orphanet:3098"}
xref: OMIM:268250 {source="MONDO:equivalentTo", source="ORDO:3098/e", source="Orphanet:3098"}
xref: Orphanet:3098 {source="OMIM:268250", source="MONDO:equivalentTo"}
xref: UMLS:C1849382 {source="OMIM:268250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3098/e", source="Orphanet:3098"}
is_a: MONDO:0019697 {source="Orphanet:3098"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537611
property_value: exactMatch http://identifiers.org/omim/268250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849382
property_value: exactMatch Orphanet:3098

[Term]
id: MONDO:0009997
name: Roberts syndrome
def: "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." [Orphanet:3103]
subset: ordo_malformation_syndrome {source="Orphanet:3103"}
synonym: "Appelt-Gerken-Lenz syndrome" RELATED [GARD:0007387]
synonym: "long bone deficiencies associated with cleft LIP-palate" EXACT [DOID:5325]
synonym: "long bone deficiencies associated with cleft Lip-palate" RELATED [OMIM:268300]
synonym: "pseudothalidomide syndrome" EXACT [Orphanet:3103]
synonym: "RBS" RELATED [MONDO:Lexical, OMIM:268300]
synonym: "Roberts syndrome" EXACT [MONDO:Lexical, OMIM:268300]
synonym: "Roberts syndrome/SC phocomelia" RELATED [GARD:0007387]
synonym: "ROBERTS syndrome; RBS" RELATED [OMIM:268300]
synonym: "Roberts tetraphocomelia syndrome" RELATED [GARD:0007387]
synonym: "Roberts-SC phocomelia syndrome" EXACT [Orphanet:3103]
synonym: "SC phocomelia" EXACT [Orphanet:3103]
synonym: "SC phocomelia syndrome (mild variant of Roberts syndrome)" RELATED [GARD:0007387]
synonym: "SC pseudothalidomide syndrome" EXACT [Orphanet:3103]
synonym: "Tetraphocomelia-cleft palate syndrome" RELATED [GARD:0007387]
xref: DOID:5325 {source="MONDO:equivalentTo"}
xref: GARD:0007387 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="Orphanet:3103", source="ORDO:3103/attributed", source="ORDO:3103/ntbt"}
xref: MESH:C535687 {source="Orphanet:3103", source="ORDO:3103/e", source="DOID:5325", source="MONDO:equivalentTo"}
xref: NCIT:C126326 {source="MONDO:kboom-pr-0.92/0.78/0.76", source="MONDO:equivalentTo"}
xref: OMIM:268300 {source="Orphanet:3103", source="ORDO:3103/e", source="DOID:5325", source="MONDO:equivalentTo"}
xref: Orphanet:3103 {source="MONDO:equivalentTo", source="OMIM:268300"}
xref: SCTID:48718006 {source="MONDO:kboom-pr-0.93/0.74/1.39", source="DOID:5325", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:5325", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015335 {source="Orphanet:3103"} ! orofacial clefting syndrome
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017432 {source="Orphanet:3103"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:3103", source="Orphanet:3103/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020232 {source="Orphanet:3103"} ! musculoskeletal disease with cataract
property_value: exactMatch DOID:5325
property_value: exactMatch http://identifiers.org/mesh/C535687
property_value: exactMatch http://identifiers.org/omim/268300
property_value: exactMatch http://identifiers.org/snomedct/48718006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392475
property_value: exactMatch NCIT:C126326
property_value: exactMatch Orphanet:3103

[Term]
id: MONDO:0009998
name: Richieri Costa-Pereira syndrome
def: "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." [Orphanet:3102]
subset: gard_rare {source="GARD:0004718"}
subset: ordo_malformation_syndrome {source="Orphanet:3102"}
synonym: "Richieri Costa Pereira syndrome" RELATED [GARD:0004718]
synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" RELATED [GARD:0004718]
synonym: "Richieri-Costa-Pereira syndrome" RELATED [OMIM:268305]
synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [OMIM:268305]
synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" RELATED [GARD:0004718]
synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102]
synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102]
xref: GARD:0004718 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3102", source="ORDO:3102/attributed", source="ORDO:3102/ntbt"}
xref: MESH:C535677 {source="ORDO:3102/e", source="Orphanet:3102", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268305 {source="ORDO:3102/e", source="Orphanet:3102", source="MONDO:equivalentTo"}
xref: Orphanet:3102 {source="MONDO:equivalentTo", source="OMIM:268305"}
xref: SCTID:723998001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849348 {source="ORDO:3102/e", source="Orphanet:3102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268305"}
is_a: MONDO:0015335 {source="Orphanet:3102"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3102"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535677
property_value: exactMatch http://identifiers.org/omim/268305
property_value: exactMatch http://identifiers.org/snomedct/723998001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849348
property_value: exactMatch Orphanet:3102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome xsd:anyURI {source="GARD:0004718"}

[Term]
id: MONDO:0009999
name: autosomal recessive Robinow syndrome
def: "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." [Orphanet:1507]
subset: ordo_clinical_subtype {source="Orphanet:1507"}
synonym: "costovertebral segmentation defect with mesomelia" RELATED [OMIM:268310]
synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [OMIM:268310]
synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [DOID:0060764, Orphanet:1507]
synonym: "COVESDEM syndrome" EXACT [DOID:0060764, Orphanet:1507]
synonym: "Covesdem syndrome" RELATED [OMIM:268310]
synonym: "Covesdem syndrome, formerly" RELATED [OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" RELATED [OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive; RRS" RELATED [OMIM:268310]
synonym: "RRS" EXACT [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507]
xref: DOID:0060764 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:0060764", source="Orphanet:1507", source="ORDO:1507/attributed", source="ORDO:1507/ntbt"}
xref: MESH:C535863 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1507", source="ORDO:1507/e"}
xref: OMIM:268310 {source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507", source="ORDO:1507/e"}
xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"}
xref: UMLS:C1849334 {source="OMIM:268310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1507", source="ORDO:1507/e"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151609
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151610
property_value: exactMatch DOID:0060764
property_value: exactMatch http://identifiers.org/mesh/C535863
property_value: exactMatch http://identifiers.org/omim/268310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849334
property_value: exactMatch Orphanet:1507

[Term]
id: MONDO:0010000
name: rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
synonym: "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" EXACT [OMIM:268315]
xref: MESH:C564829 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268315 {source="MONDO:equivalentTo"}
xref: UMLS:C1849333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268315"}
is_a: MONDO:0003847 {source="MESH:C564829/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564829
property_value: exactMatch http://identifiers.org/omim/268315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849333

[Term]
id: MONDO:0010001
name: ectodermal dysplasia-blindness syndrome
def: "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." [Orphanet:1806]
subset: ordo_malformation_syndrome {source="Orphanet:1806"}
synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [OMIM:268320]
synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293]
synonym: "RODRIGUES blindness" RELATED [OMIM:268320]
xref: GARD:0000293 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1806/attributed", source="ORDO:1806/ntbt", source="Orphanet:1806"}
xref: MESH:C535865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268320 {source="MONDO:equivalentTo", source="Orphanet:1806", source="ORDO:1806/e"}
xref: Orphanet:1806 {source="OMIM:268320", source="MONDO:equivalentTo"}
xref: UMLS:C1849332 {source="NCBI:mim2gene_medline", source="OMIM:268320", source="MONDO:equivalentTo", source="Orphanet:1806"}
is_a: MONDO:0019287 {source="MONDOLEX:0010001", source="Orphanet:1806"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020277 {source="Orphanet:1806"} ! ectodermal malformation syndrome associated with ocular features
property_value: exactMatch http://identifiers.org/mesh/C535865
property_value: exactMatch http://identifiers.org/omim/268320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849332
property_value: exactMatch Orphanet:1806

[Term]
id: MONDO:0010002
name: Rothmund-Thomson syndrome
def: "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." [Orphanet:2909]
comment: Editor note: check whether properties apply to both 1 and 2, or just type 2
subset: ordo_disease {source="Orphanet:2909"}
synonym: "congenital poikiloderma" EXACT [DOID:2732, MTHICD9_2006:757.33]
synonym: "poikiloderma atrophicans and cataract" RELATED [OMIM:268400]
synonym: "poikiloderma congenitale" RELATED [GARD:0004392]
synonym: "poikiloderma of Rothmund-Thomson" EXACT [Orphanet:2909]
synonym: "Rothmund-Thomson syndrome" EXACT [MONDO:Lexical, OMIM:268400]
synonym: "Rothmund-Thomson syndrome; RTS" RELATED [OMIM:268400]
synonym: "RTS" EXACT [DOID:2732, NCIT:C3335, Orphanet:2909]
synonym: "RTS" RELATED [MONDO:Lexical, OMIM:268400]
xref: DOID:2732 {source="MONDO:equivalentTo"}
xref: GARD:0004392 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:2909", source="DOID:2732", source="ORDO:2909/ntbt", source="ORDO:2909/index"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011038 {source="ORDO:2909/e", source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3335 {source="DOID:2732", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.32"}
xref: OMIMPS:268400 {source="MONDO:equivalentTo"}
xref: Orphanet:2909 {source="MONDO:equivalentTo", source="OMIM:268400"}
xref: SCTID:69093006 {source="MONDO:kboom-pr-0.95/0.83/1.15", source="DOID:2732", source="MONDO:equivalentTo"}
xref: UMLS:C0032339 {source="ORDO:2909/e", source="Orphanet:2909", source="NCBI:mim2gene_medline", source="DOID:2732", source="MONDO:equivalentTo", source="OMIM:268400", source="NCIT:C3335"}
is_a: MONDO:0015333 {source="Orphanet:2909"} ! progeroid syndrome
is_a: MONDO:0015356 {source="NCIT:C3335", source="linkedlifedata"} ! hereditary neoplastic syndrome
is_a: MONDO:0015951 {source="Orphanet:2909", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0016382 {source="Orphanet:2909"} ! hereditary poikiloderma
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019304 {source="Orphanet:2909"} ! rare photodermatosis
is_a: MONDO:0020233 {source="Orphanet:2909"} ! dentocutaneous disease with cataract
is_a: MONDO:0020277 {source="Orphanet:2909"} ! ectodermal malformation syndrome associated with ocular features
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: closeMatch http://identifiers.org/snomedct/205565002
property_value: closeMatch http://identifiers.org/snomedct/205572001
property_value: exactMatch DOID:2732
property_value: exactMatch http://identifiers.org/mesh/D011038
property_value: exactMatch http://identifiers.org/snomedct/69093006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032339
property_value: exactMatch NCIT:C3335
property_value: exactMatch Orphanet:2909

[Term]
id: MONDO:0010003
name: Rowley-Rosenberg syndrome
subset: gard_rare {source="GARD:0008556"}
synonym: "Growth retardation, pulmonary hypertension, and amino aciduria" RELATED [OMIM:268500]
synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" RELATED [GARD:0008556]
synonym: "Rowley-Rosenberg syndrome" EXACT [OMIM:268500]
xref: GARD:0008556 {source="MONDO:equivalentTo"}
xref: MESH:C535874 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:268500 {source="MONDO:equivalentTo"}
xref: SCTID:53783003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268426 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268500"}
is_a: MONDO:0003847 {source="MESH:C535874/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535874
property_value: exactMatch http://identifiers.org/omim/268500
property_value: exactMatch http://identifiers.org/snomedct/53783003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome xsd:anyURI {source="GARD:0008556"}

[Term]
id: MONDO:0010004
name: EEC syndrome
def: "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." [Orphanet:1896]
subset: gard_rare {source="GARD:0002076"}
subset: ordo_malformation_syndrome {source="Orphanet:1896"}
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [DOID:0060782]
synonym: "ectrodactyly-cleft lip/palate syndrome" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" EXACT [Orphanet:1896]
synonym: "ectrodactyly-ectodermal dysplasia-cleft syndrome" EXACT [NCIT:C148261]
synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [DOID:0060782]
synonym: "RUDIGER syndrome" RELATED [OMIM:268650]
synonym: "Rudiger syndrome 1" EXACT [DOID:0060782]
synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782]
xref: DC:0000689 {source="MONDO:equivalentTo"}
xref: DOID:0060782 {source="MONDO:equivalentTo"}
xref: GARD:0002076 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="DOID:0060782", source="ORDO:1896/attributed", source="ORDO:1896/ntbt", source="Orphanet:1896"}
xref: NCIT:C148261 {source="MONDO:equivalentTo"}
xref: OMIM:268650 {source="MONDO:equivalentTo"}
xref: Orphanet:1896 {source="DOID:0060782", source="MONDO:equivalentTo"}
xref: SCTID:39788007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0406704 {source="DOID:0060782", source="ORDO:1896/e", source="NCBI:mim2gene_medline", source="OMIM:268650", source="MONDO:equivalentTo", source="Orphanet:1896", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN776907 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 {source="DOID:0060782", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015501 {source="Orphanet:1896"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0017432 {source="Orphanet:1896"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1896", source="Orphanet:1896/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019721 {source="Orphanet:1896"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020160 {source="Orphanet:1896"} ! secondary entropion
is_a: MONDO:0020197 {source="Orphanet:1896"} ! EEC syndrome and related syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851841
property_value: closeMatch Orphanet:3118
property_value: exactMatch DOID:0060782
property_value: exactMatch http://identifiers.org/omim/268650
property_value: exactMatch http://identifiers.org/snomedct/39788007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776907
property_value: exactMatch NCIT:C148261
property_value: exactMatch Orphanet:1896
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome xsd:anyURI {source="GARD:0002076"}

[Term]
id: MONDO:0010005
name: saccharopinuria
def: "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." [Orphanet:3124]
subset: ordo_disease {source="Orphanet:3124"}
synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:268700]
synonym: "hyperlysinemia type II" EXACT [Orphanet:3124]
synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700]
synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124]
synonym: "saccharopinuria" EXACT [OMIM:268700]
xref: GARD:0000314 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.3 {source="MONDO:subClassOf", source="Orphanet:3124", source="ORDO:3124/attributed", source="ORDO:3124/ntbt"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537218 {source="ORDO:3124/e", source="Orphanet:3124", source="MONDO:equivalentTo"}
xref: OMIM:268700 {source="ORDO:3124/e", source="Orphanet:3124", source="MONDO:equivalentTo"}
xref: Orphanet:3124 {source="MONDO:equivalentTo", source="OMIM:268700"}
xref: SCTID:111397004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.17"}
xref: UMLS:C0268556 {source="ORDO:3124/e", source="Orphanet:3124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268700"}
is_a: MONDO:0017351 {source="Orphanet:3124"} ! inborn disorder of lysine and hydroxylysine metabolism
property_value: exactMatch http://identifiers.org/mesh/C537218
property_value: exactMatch http://identifiers.org/omim/268700
property_value: exactMatch http://identifiers.org/snomedct/111397004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936921
property_value: exactMatch Orphanet:3124

[Term]
id: MONDO:0010006
name: Sandhoff disease
def: "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration." [Orphanet:796]
subset: gard_rare
subset: ordo_disease {source="Orphanet:796"}
synonym: "Beta-hexosaminidase-beta-subunit deficiency" RELATED [GARD:0007604]
synonym: "GM2 gangliosidosis 0 variant" EXACT [Orphanet:796]
synonym: "GM2 gangliosidosis, 0 variant" RELATED [GARD:0002521]
synonym: "GM2 gangliosidosis, type 2" RELATED [GARD:0007604]
synonym: "GM2-gangliosidosis, type 2" RELATED [OMIM:268800]
synonym: "hexosaminidase A and B deficiency disease" RELATED [GARD:0007604]
synonym: "Hexosaminidases A and B deficiency" EXACT [Orphanet:796]
synonym: "Hexosaminidases a and B deficiency" RELATED [OMIM:268800]
synonym: "Sandhoff disease" EXACT [OMIM:268800]
synonym: "Sandhoff disease, adult type" RELATED [OMIM:268800]
synonym: "Sandhoff disease, infantile type" RELATED [OMIM:268800]
synonym: "Sandhoff disease, juvenile type" RELATED [OMIM:268800]
synonym: "Sandhoff Jatzkewitz disease" EXACT [CSP2005:1849-8747, DOID:3323]
synonym: "Sandhoff-Jatzkewitz-Pilz disease" RELATED [GARD:0007604]
synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604]
xref: DOID:3323 {source="MONDO:equivalentTo"}
xref: GARD:0002521 {source="MONDO:equivalentTo"}
xref: GARD:0007604 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="Orphanet:796", source="ORDO:796/inclusion", source="ORDO:796/ntbt"}
xref: ICD10:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"}
xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="ORDO:796/e"}
xref: NCIT:C85052 {source="DOID:3323", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:268800 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="ORDO:796/e"}
xref: Orphanet:796 {source="MONDO:equivalentTo", source="OMIM:268800"}
xref: SCTID:23849003 {source="DOID:3323", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0036161 {source="Orphanet:796", source="DOID:3323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85052", source="OMIM:268800", source="ORDO:796/e"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016133 {source="Orphanet:796"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017720 {source="DOID:3323", source="ICD10:E75.01", source="MESH:D012497", source="MONDOLEX:0010006", source="Orphanet:796", source="linkedlifedata"} ! GM2 gangliosidosis
is_a: MONDO:0020143 {source="Orphanet:796"} ! cerebral lipidosis with dementia
is_a: MONDO:0020282 {source="Orphanet:796"} ! metabolic disease with macular cherry-red spot
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849320
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849321
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849322
property_value: exactMatch DOID:3323
property_value: exactMatch http://identifiers.org/mesh/D012497
property_value: exactMatch http://identifiers.org/omim/268800
property_value: exactMatch http://identifiers.org/snomedct/23849003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036161
property_value: exactMatch NCIT:C85052
property_value: exactMatch Orphanet:796

[Term]
id: MONDO:0010007
name: microbrachycephaly-ptosis-cleft lip syndrome
def: "Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." [Orphanet:2511]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2511"}
synonym: "microbrachycephaly ptosis cleft lip" RELATED [GARD:0003596]
synonym: "Richieri Costa-Guion Almeida-Ramos syndrome" EXACT [Orphanet:2511]
synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [OMIM:268850]
synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850]
synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850]
xref: GARD:0003596 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2511", source="ORDO:2511/attributed", source="ORDO:2511/ntbt"}
xref: OMIM:268850 {source="Orphanet:2511", source="ORDO:2511/e", source="MONDO:equivalentTo"}
xref: Orphanet:2511 {source="GARD:0003596", source="MONDO:equivalentTo", source="OMIM:268850"}
xref: UMLS:C0796142 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268850"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2511", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="MONDOLEX:0010007", source="Orphanet:2511"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2511"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/omim/268850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796142
property_value: exactMatch Orphanet:2511
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip xsd:anyURI {source="GARD:0003596"}

[Term]
id: MONDO:0010008
name: sarcosinemia
def: "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." [Orphanet:3129]
subset: gard_rare {source="GARD:0000158"}
subset: ordo_disease {source="Orphanet:3129"}
synonym: "hypersarcosinemia" RELATED [OMIM:268900]
synonym: "SARCOS" RELATED [MONDO:Lexical, OMIM:268900]
synonym: "sarcosine dehydrogenase complex deficiency" RELATED [OMIM:268900, Orphanet:3129]
synonym: "sarcosinemia" EXACT [MONDO:Lexical, OMIM:268900]
synonym: "sarcosinemia; SARCOS" RELATED [OMIM:268900]
synonym: "SARD deficiency" RELATED [OMIM:268900]
synonym: "SARDH deficiency" RELATED [OMIM:268900]
xref: GARD:0000158 {source="MONDO:equivalentTo"}
xref: ICD10:E72.5 {source="ORDO:3129/ntbt", source="Orphanet:3129", source="ORDO:3129/inclusion"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059299 {source="Orphanet:3129", source="ORDO:3129/e"}
xref: MESH:C537236 {source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e", source="MONDO:ontobio"}
xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e"}
xref: Orphanet:3129 {source="MONDO:equivalentTo", source="OMIM:268900"}
xref: SCTID:64852002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.87"}
xref: UMLS:C0268563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e", source="OMIM:268900"}
is_a: MONDO:0019239 {source="Orphanet:3129"} ! inborn disorder of serine family metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045020 ! glycine metabolism disease
property_value: exactMatch http://identifiers.org/meddra/10059299
property_value: exactMatch http://identifiers.org/mesh/C537236
property_value: exactMatch http://identifiers.org/omim/268900
property_value: exactMatch http://identifiers.org/snomedct/64852002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268563
property_value: exactMatch Orphanet:3129
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/158/sarcosinemia xsd:anyURI {source="GARD:0000158"}

[Term]
id: MONDO:0010009
name: SC phocomelia syndrome
def: "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome." [NCIT:C4681]
synonym: "hypomelia hypotrichosis Facial hemangioma syndrome" EXACT [DOID:0050536]
synonym: "phocomelia-pseudothalidomide syndrome" EXACT [NCIT:C4681]
synonym: "pseudothalidomide syndrome" EXACT [NCIT:C4681]
synonym: "Roberts-SC phocomelia syndrome" EXACT [NCIT:C4681]
synonym: "Roberts-SC phocomelia syndrome" RELATED [NCIT:C4681]
synonym: "SC phocomelia syndrome" EXACT [OMIM:269000]
synonym: "SC pseudothalidomide syndrome" EXACT EXCLUDE [DOID:0050536]
xref: DOID:0050536 {source="MONDO:equivalentTo"}
xref: NCIT:C4681 {source="MONDO:kboom-pr-0.91/0.77/0.76", source="MONDO:equivalentTo"}
xref: OMIM:269000 {source="MONDO:equivalentTo", source="DOID:0050536"}
is_a: MONDO:0009997 {source="ORDO:3103/btnt"} ! Roberts syndrome
is_a: MONDO:0015356 {source="NCIT:C4681"} ! hereditary neoplastic syndrome
property_value: exactMatch DOID:0050536
property_value: exactMatch http://identifiers.org/omim/269000
property_value: exactMatch NCIT:C4681

[Term]
id: MONDO:0010010
name: Schinzel-Giedion syndrome
def: "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." [Orphanet:798]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:798"}
synonym: "Schinzel Giedion midface-retraction syndrome" RELATED [GARD:0000117]
synonym: "Schinzel Giedion syndrome" RELATED [GARD:0000117]
synonym: "Schinzel-Giedion midface retraction syndrome" RELATED [OMIM:269150]
synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [NCIT:C129308]
synonym: "Schinzel-Giedion syndrome" EXACT [GARD:0000117]
synonym: "SGS" EXACT [Orphanet:798]
synonym: "Sgs" RELATED [OMIM:269150]
xref: GARD:0000117 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:798", source="ORDO:798/attributed", source="ORDO:798/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063540 {source="Orphanet:798", source="ORDO:798/e"}
xref: MESH:C536632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129308 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: OMIM:269150 {source="Orphanet:798", source="MONDO:equivalentTo", source="GARD:0000117", source="ORDO:798/e"}
xref: Orphanet:798 {source="MONDO:equivalentTo", source="GARD:0000117", source="OMIM:269150"}
xref: SCTID:18899000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265227 {source="Orphanet:798", source="MONDO:equivalentTo", source="NCIT:C129308", source="ORDO:798/e", source="OMIM:269150"}
is_a: MONDO:0015945 {source="Orphanet:798"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019287 {source="Orphanet:798", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019721 {source="Orphanet:798"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:798"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849294
property_value: exactMatch http://identifiers.org/meddra/10063540
property_value: exactMatch http://identifiers.org/mesh/C536632
property_value: exactMatch http://identifiers.org/omim/269150
property_value: exactMatch http://identifiers.org/snomedct/18899000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265227
property_value: exactMatch NCIT:C129308
property_value: exactMatch Orphanet:798

[Term]
id: MONDO:0010011
name: schizencephaly
def: "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." [Orphanet:799]
subset: gard_rare
subset: ordo_disease {source="Orphanet:799"}
synonym: "schizencephaly" EXACT [OMIM:269160]
xref: GARD:0000166 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.6 {source="Orphanet:799", source="ORDO:799/inclusion", source="ORDO:799/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C99056 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:269160 {source="ORDO:799/e", source="Orphanet:799", source="GARD:0000166", source="MONDO:equivalentTo"}
xref: Orphanet:799 {source="GARD:0000166", source="MONDO:equivalentTo", source="OMIM:269160"}
xref: SCTID:253159001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0015655 {source="Orphanet:799"} ! cerebral malformation with epilepsy
is_a: MONDO:0017103 {source="Orphanet:799"} ! encephaloclastic disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266484
property_value: exactMatch http://identifiers.org/omim/269160
property_value: exactMatch http://identifiers.org/snomedct/253159001
property_value: exactMatch NCIT:C99056
property_value: exactMatch Orphanet:799

[Term]
id: MONDO:0010012
name: autoimmune polyendocrinopathy type 2
def: "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." [NCIT:C129728]
subset: ordo_disease {source="Orphanet:3143"}
synonym: "APS 2" RELATED [OMIM:269200]
synonym: "APS type 2" EXACT [Orphanet:3143]
synonym: "APS2" EXACT [MONDO:Lexical, OMIM:269200, Orphanet:3143]
synonym: "autoimmune polyendocrine syndrome type 2" EXACT [MONDO:0000272, Orphanet:3143]
synonym: "autoimmune polyendocrine syndrome, type II" RELATED [MONDO:Lexical, OMIM:269200]
synonym: "autoimmune polyendocrine syndrome, type II; APS2" RELATED [OMIM:269200]
synonym: "autoimmune polyglandular syndrome type 2" EXACT [Orphanet:3143]
synonym: "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome" EXACT [Orphanet:3143]
synonym: "diabetes mellitus, Addison disease, myxedema" RELATED [OMIM:269200]
synonym: "diabetes mellitus, Addison's disease, myxedema" RELATED [GARD:0007611]
synonym: "multiple endocrine deficiency syndrome, type 2" RELATED [GARD:0007611]
synonym: "PGA 2" RELATED [OMIM:269200]
synonym: "polyendocrine autoimmune syndrome, type 2" RELATED [OMIM:269200]
synonym: "polyglandular autoimmune syndrome, type 2" RELATED [OMIM:269200]
synonym: "polyglandular deficiency syndrome type 2" RELATED [GARD:0007611]
synonym: "Schmidt syndrome" EXACT [DOID:0050168, OMIM:269200, Orphanet:3143]
synonym: "Schmidt's syndrome" RELATED [GARD:0007611]
xref: DOID:0050168 {source="MONDO:equivalentTo"}
xref: GARD:0007611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E31.0 {source="MONDO:subClassOf", source="ORDO:3143/specific", source="Orphanet:3143", source="ORDO:3143/e"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129728 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:269200 {source="MONDO:equivalentTo", source="Orphanet:3143", source="ORDO:3143/e"}
xref: Orphanet:3143 {source="OMIM:269200", source="MONDO:equivalentTo"}
xref: SCTID:83728000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.43/0.15"}
is_a: MONDO:0017278 {source="DC-OMIM:269200", source="DOID:0050168", source="MONDOLEX:0010012", source="NCIT:C129728", source="Orphanet:3143", source="linkedlifedata"} ! autoimmune polyendocrinopathy
relationship: excluded_subClassOf MONDO:0015130 {source="Orphanet:3143"} ! acquired chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0019851 {source="Orphanet:3143"} ! acquired primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085860
property_value: exactMatch DOID:0050168
property_value: exactMatch http://identifiers.org/omim/269200
property_value: exactMatch http://identifiers.org/snomedct/83728000
property_value: exactMatch NCIT:C129728
property_value: exactMatch Orphanet:3143

[Term]
id: MONDO:0010013
name: schneckenbecken dysplasia
def: "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." [Orphanet:3144]
subset: gard_rare {source="GARD:0000169"}
subset: ordo_malformation_syndrome {source="Orphanet:3144"}
synonym: "chondrodysplasia lethal neonatal with snail like pelvis" RELATED [GARD:0000169]
synonym: "chondrodysplasia with snail-like pelvis" EXACT [Orphanet:3144]
synonym: "chondrodysplasia, lethal neonatal, with snail-like pelvis" RELATED [OMIM:269250]
synonym: "schneckenbecken dysplasia" EXACT [OMIM:269250]
synonym: "schneckenbecken dysplasia; SHNKND" RELATED [OMIM:269250]
synonym: "SHNKND" RELATED [OMIM:269250]
synonym: "SLC35D1-CDG" EXACT [Orphanet:3144]
xref: DOID:0050775 {source="MONDO:equivalentTo"}
xref: GARD:0000169 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:3144", source="ORDO:3144/attributed", source="ORDO:3144/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3144/e"}
xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="ORDO:3144/e"}
xref: Orphanet:3144 {source="MONDO:equivalentTo", source="OMIM:269250"}
xref: SCTID:254049009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0432194 {source="Orphanet:3144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:269250", source="ORDO:3144/e"}
is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0017744 {source="Orphanet:3144"} ! disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
is_a: MONDO:0018292 {source="Orphanet:3144"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019694 {source="Orphanet:3144"} ! spondylodysplastic dysplasia
property_value: exactMatch DOID:0050775
property_value: exactMatch http://identifiers.org/mesh/C536637
property_value: exactMatch http://identifiers.org/omim/269250
property_value: exactMatch http://identifiers.org/snomedct/254049009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432194
property_value: exactMatch Orphanet:3144
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia xsd:anyURI {source="GARD:0000169"}

[Term]
id: MONDO:0010014
name: craniometadiaphyseal dysplasia, wormian bone type
def: "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." [Orphanet:85184]
comment: OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. {source="OMIM:269300"}
subset: ordo_malformation_syndrome {source="Orphanet:85184"}
synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300]
synonym: "CRANIOMETADIAPHYSEAL dysplasia; CRMDD" RELATED [OMIM:269300]
synonym: "CRMDD" RELATED [MONDO:Lexical, OMIM:269300]
synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300]
xref: ICD10:Q78.8 {source="ORDO:85184/attributed", source="ORDO:85184/ntbt", source="Orphanet:85184"}
xref: OMIM:269300 {source="MONDO:equivalentTo", source="ORDO:85184/e", source="Orphanet:85184"}
xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"}
xref: SCTID:278833002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019703 {source="Orphanet:85184"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265292
property_value: exactMatch http://identifiers.org/omim/269300
property_value: exactMatch http://identifiers.org/snomedct/278833002
property_value: exactMatch Orphanet:85184

[Term]
id: MONDO:0010015
name: anterior segment dysgenesis 7
alt_id: MONDO:0000817
def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:289499"}
synonym: "anterior segment dysgenesis 7; ASGD7" RELATED [OMIM:269400]
synonym: "anterior segment dysgenesis caused by mutation in PXDN" EXACT [MONDO:design_pattern]
synonym: "ASGD7" RELATED [OMIM:269400]
synonym: "CCMCO" EXACT [Orphanet:289499]
synonym: "congenital cataract microcornea with corneal opacity" RELATED [Orphanet:289499]
synonym: "COPOA" RELATED [MONDO:Lexical, OMIM:269400]
synonym: "corneal opacification and other ocular anomalies" RELATED [DOID:0060648]
synonym: "corneal opacification with Other ocular anomalies" RELATED [OMIM:269400]
synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical, OMIM:269400]
synonym: "corneal opacification with other ocular anomalies; COPOA" RELATED [OMIM:269400]
synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400]
synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648]
xref: DOID:0060648 {source="MONDO:equivalentTo"}
xref: OMIM:269400 {source="Orphanet:289499", source="ORDO:289499/e", source="MONDO:equivalentTo"}
xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"}
xref: UMLS:C3151617 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:269400"}
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0019503 {source="DC-OMIM:269400", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis
is_a: MONDO:0019629 {source="DOID:0060648"} ! sclerocornea (disease)
is_a: MONDO:0020225 {source="Orphanet:289499"} ! syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853235
property_value: exactMatch DOID:0060648
property_value: exactMatch http://identifiers.org/omim/269400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151617
property_value: exactMatch Orphanet:289499

[Term]
id: MONDO:0010016
name: sclerosteosis 1
def: "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." [MONDO:design_pattern]
synonym: "cortical hyperostosis with syndactyly" RELATED [OMIM:269500]
synonym: "sclerosteosis 1" EXACT [MONDO:Lexical, OMIM:269500]
synonym: "sclerosteosis 1; SOST1" RELATED [OMIM:269500]
synonym: "sclerosteosis caused by mutation in SOST" EXACT [MONDO:design_pattern]
synonym: "sclerosteosis type 1" EXACT [DOID:0060756, MONDORULE:1, OMIM:269500]
synonym: "SOST" RELATED [OMIM:269500]
synonym: "SOST sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SOST1" EXACT [DOID:0060756, MONDO:Lexical, OMIM:269500]
xref: DOID:0060756 {source="MONDO:equivalentTo"}
xref: ICD10:M85.2 {source="DOID:0060756"}
xref: OMIM:269500 {source="MONDO:equivalentTo", source="DOID:0060756"}
xref: UMLS:CN032489 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017838 {source="DC-OMIM:269500", source="DOID:0060756", source="MONDO:Redundant", source="MONDOLEX:0010016", source="OMIM:269500"} ! sclerosteosis
property_value: exactMatch DOID:0060756
property_value: exactMatch http://identifiers.org/omim/269500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032489

[Term]
id: MONDO:0010017
name: sea-blue histiocyte syndrome
def: "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." [NCIT:P378]
subset: clingen
subset: ordo_disease {source="Orphanet:158029"}
synonym: "histiocytosis, Sea-blue" RELATED [OMIM:269600]
synonym: "inherited Lipemic splenomegaly" RELATED [GARD:0008241]
synonym: "SEA-blue histiocyte disease" RELATED [OMIM:269600]
synonym: "sea-blue histiocytosis" RELATED [OMIM:269600]
xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"}
xref: EFO:1001170 {source="MONDO:equivalentTo"}
xref: GARD:0008241 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D76.3 {source="Orphanet:158029", source="ORDO:158029/attributed", source="ORDO:158029/ntbt"}
xref: MESH:D012618 {source="DOID:4423", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001170"}
xref: NCIT:C85062 {source="DOID:4423", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001170"}
xref: OMIM:269600 {source="Orphanet:158029", source="DOID:4423", source="ORDO:158029/e", source="MONDO:equivalentTo"}
xref: Orphanet:158029 {source="MONDO:equivalentTo", source="OMIM:269600"}
xref: SCTID:37821003 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170", source="MONDO:kboom-pr-1.00/0.91/28.64"}
xref: UMLS:C0036489 {source="NCIT:C85062", source="Orphanet:158029", source="DOID:4423", source="NCBI:mim2gene_medline", source="ORDO:158029/e", source="MONDO:equivalentTo", source="OMIM:269600"}
is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis
relationship: disease_has_feature MONDO:0005509 {source="EFO:1001170"} ! histiocytoma
property_value: exactMatch DOID:4423
property_value: exactMatch http://identifiers.org/mesh/D012618
property_value: exactMatch http://identifiers.org/omim/269600
property_value: exactMatch http://identifiers.org/snomedct/37821003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036489
property_value: exactMatch NCIT:C85062
property_value: exactMatch Orphanet:158029

[Term]
id: MONDO:0010018
name: second metatarsal-metacarpal syndrome
synonym: "second metatarsal-metacarpal syndrome" EXACT [OMIM:269630]
xref: MESH:C564824 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269630 {source="MONDO:equivalentTo"}
xref: UMLS:C1849259 {source="OMIM:269630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564824
property_value: exactMatch http://identifiers.org/omim/269630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849259

[Term]
id: MONDO:0010019
name: secretory component deficiency
synonym: "IgA deficiency, secretory" RELATED [OMIM:269650]
synonym: "secretory component deficiency" EXACT [OMIM:269650]
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269650 {source="MONDO:equivalentTo"}
xref: SCTID:234554004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
xref: UMLS:C0398709 {source="OMIM:269650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001341 {source="MESH:C562869"} ! selective IgA deficiency disease
property_value: closeMatch Orphanet:69127
property_value: exactMatch http://identifiers.org/mesh/C562869
property_value: exactMatch http://identifiers.org/omim/269650
property_value: exactMatch http://identifiers.org/snomedct/234554004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398709

[Term]
id: MONDO:0010020
name: congenital generalized lipodystrophy type 2
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010212"}
synonym: "Berardinelli Seip congenital lipodystrophy type 2" RELATED [GARD:0010212]
synonym: "Berardinelli syndrome" RELATED [OMIM:269700]
synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [DOID:0111136]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 2" RELATED [OMIM:269700]
synonym: "Berardinelli-Seip syndrome" EXACT [DOID:0111136]
synonym: "Brunzell syndrome BSCL2-related" EXACT [DOID:0111136]
synonym: "Brunzell syndrome, BSCL2-related" RELATED [OMIM:269700]
synonym: "BSCL2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "BSCL2-related Brunzell syndrome" RELATED [GARD:0010212]
synonym: "CGL2" EXACT [DOID:0111136, MONDO:Lexical, OMIM:269700]
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2" EXACT []
synonym: "congenital lipoatrophic diabetes" EXACT [DOID:0111136]
synonym: "lipoatrophic diabetes, congenital" RELATED [OMIM:269700]
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 2" RELATED [OMIM:269700]
synonym: "lipodystrophy, congenital generalized, type 2" RELATED [MONDO:Lexical, OMIM:269700]
synonym: "lipodystrophy, congenital generalized, type 2; CGL2" RELATED [OMIM:269700]
synonym: "lipodystrophy, total, and acromegaloid gigantism" RELATED [OMIM:269700]
synonym: "Seip syndrome" RELATED [OMIM:269700]
synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [DOID:0111136]
xref: DOID:0111136 {source="MONDO:equivalentTo"}
xref: GARD:0010212 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="DOID:0111136"}
xref: OMIM:269700 {source="MONDO:equivalentTo", source="DOID:0111136"}
is_a: MONDO:0006536 {source="DC-OMIM:269700", source="DOID:0111136", source="MONDO:Redundant", source="MONDOLEX:0010020", source="OMIM:269700"} ! congenital generalized lipodystrophy (disease)
is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720863
property_value: exactMatch DOID:0111136
property_value: exactMatch http://identifiers.org/omim/269700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2 xsd:anyURI {source="GARD:0010212"}

[Term]
id: MONDO:0010021
name: seizures, benign familial neonatal, autosomal recessive
synonym: "autosomal dominant form of benign neonatal seizures" RELATED [GARD:0001519]
synonym: "Bfns, autosomal recessive" RELATED [OMIM:269720]
synonym: "convulsions benign familial neonatal dominant form" RELATED [GARD:0001519]
synonym: "convulsions, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720]
synonym: "epilepsy, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720]
synonym: "seizures, benign familial neonatal, autosomal recessive" EXACT [OMIM:269720]
xref: GARD:0001519 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564823 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269720 {source="MONDO:equivalentTo"}
xref: UMLS:C1849250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:269720"}
is_a: MONDO:0016027 {source="DC-OMIM:269720"} ! benign neonatal seizures
property_value: exactMatch http://identifiers.org/mesh/C564823
property_value: exactMatch http://identifiers.org/omim/269720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849250

[Term]
id: MONDO:0010022
name: senile plaque formation
synonym: "senile plaque formation" EXACT [OMIM:269800]
xref: OMIM:269800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849249
property_value: exactMatch http://identifiers.org/omim/269800

[Term]
id: MONDO:0010023
name: combined immunodeficiency due to ZAP70 deficiency
def: "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." [Orphanet:911]
subset: ordo_disease {source="Orphanet:911"}
synonym: "IMD48" RELATED [OMIM:269840]
synonym: "immunodeficiency 48" RELATED [OMIM:269840]
synonym: "immunodeficiency 48; IMD48" RELATED [OMIM:269840]
synonym: "selective T-cell defect" RELATED [MONDO:Lexical, OMIM:269840]
synonym: "selective T-cell defect; STCD" RELATED [OMIM:269840]
synonym: "severe combined immunodeficiency due to ZAP70 deficiency" RELATED [GARD:0000387]
synonym: "STCD" RELATED [MONDO:Lexical, OMIM:269840]
synonym: "ZAP-70 deficiency" RELATED [GARD:0000387]
synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911]
xref: GARD:0000387 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D81.8 {source="Orphanet:911", source="ORDO:911/attributed", source="ORDO:911/ntbt"}
xref: MESH:C536722 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269840 {source="ORDO:911/e", source="Orphanet:911", source="MONDO:equivalentTo"}
xref: Orphanet:911 {source="MONDO:equivalentTo", source="OMIM:269840"}
xref: SCTID:716378008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018814 {source="Orphanet:911"} ! non-severe combined immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849236
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931299
property_value: exactMatch http://identifiers.org/mesh/C536722
property_value: exactMatch http://identifiers.org/omim/269840
property_value: exactMatch http://identifiers.org/snomedct/716378008
property_value: exactMatch Orphanet:911

[Term]
id: MONDO:0010024
name: Beemer-Langer syndrome
def: "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." [Orphanet:93268]
subset: ordo_malformation_syndrome {source="Orphanet:93268"}
synonym: "Beemer Langer syndrome" RELATED [GARD:0004832]
synonym: "Beemer-Langer syndrome" EXACT [OMIM:269860]
synonym: "short rib polydactyly syndrome Beemer-Langer type" RELATED [GARD:0004832]
synonym: "short rib syndrome, Beemer type" RELATED [OMIM:269860]
synonym: "short rib-polydactyly syndrome Beemer type" RELATED [GARD:0004832]
synonym: "short rib-polydactyly syndrome type 4" EXACT [Orphanet:93268]
synonym: "short rib-polydactyly syndrome type IV" RELATED [GARD:0004832]
synonym: "short rib-polydactyly syndrome, Beemer-Langer type" RELATED [Orphanet:93268]
synonym: "short rib-polydactyly syndrome, type 4" RELATED [OMIM:269860]
synonym: "short-rib thoracic dysplasia 12" RELATED [MONDO:Lexical, OMIM:269860]
synonym: "short-rib thoracic dysplasia 12; SRTD12" RELATED [OMIM:269860]
synonym: "Srps 4" RELATED [OMIM:269860]
synonym: "SRPS type 4" RELATED [GARD:0004832]
synonym: "SRTD12" RELATED [MONDO:Lexical, OMIM:269860]
synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249]
xref: DOID:9249 {source="MONDO:equivalentTo"}
xref: GARD:0004832 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.2 {source="Orphanet:93268", source="ORDO:93268/attributed", source="ORDO:93268/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537599 {source="DOID:9249", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269860 {source="DOID:9249", source="ORDO:93268/e", source="MONDO:equivalentTo", source="Orphanet:93268"}
xref: Orphanet:93268 {source="OMIM:269860", source="MONDO:equivalentTo"}
xref: SCTID:254052001 {source="DOID:9249", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432198 {source="DOID:9249", source="NCBI:mim2gene_medline", source="OMIM:269860", source="MONDO:equivalentTo", source="Orphanet:93268"}
is_a: MONDO:0018770 {source="OMIM:269860"} ! Jeune syndrome
property_value: exactMatch DOID:9249
property_value: exactMatch http://identifiers.org/mesh/C537599
property_value: exactMatch http://identifiers.org/omim/269860
property_value: exactMatch http://identifiers.org/snomedct/254052001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432198
property_value: exactMatch Orphanet:93268

[Term]
id: MONDO:0010025
name: short stature-obesity syndrome
synonym: "short stature-obesity syndrome" EXACT [MONDO:Lexical, OMIM:269870]
synonym: "short stature-obesity syndrome; SSOS" RELATED [OMIM:269870]
synonym: "SSOS" RELATED [MONDO:Lexical, OMIM:269870]
xref: MESH:C564821 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:269870 {source="MONDO:equivalentTo"}
xref: UMLS:C1849235 {source="OMIM:269870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564821/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564821
property_value: exactMatch http://identifiers.org/omim/269870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849235

[Term]
id: MONDO:0010026
name: SHORT syndrome
def: "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." [Orphanet:3163]
subset: ordo_malformation_syndrome {source="Orphanet:3163"}
synonym: "Aarskog-Ose-Pande syndrome" EXACT [Orphanet:3163]
synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [OMIM:269880]
synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [Orphanet:3163]
synonym: "partial lipodystrophy with Rieger anomaly and short stature" RELATED [GARD:0007633]
synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [Orphanet:3163]
synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay" RELATED [GARD:0007633]
synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" RELATED [OMIM:269880]
synonym: "short syndrome" EXACT [OMIM:269880]
xref: GARD:0007633 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:3163", source="ORDO:3163/attributed", source="ORDO:3163/ntbt"}
xref: MESH:C537327 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3163", source="ORDO:3163/e"}
xref: OMIM:269880 {source="MONDO:equivalentTo", source="Orphanet:3163", source="ORDO:3163/e"}
xref: Orphanet:3163 {source="OMIM:269880", source="MONDO:equivalentTo"}
xref: UMLS:C0878684 {source="OMIM:269880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3163", source="ORDO:3163/e"}
is_a: MONDO:0015218 {source="Orphanet:3163"} ! syndromic developmental defect of the eye
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015329 {source="Orphanet:3163"} ! malformation syndrome with short stature
is_a: MONDO:0015333 {source="Orphanet:3163"} ! progeroid syndrome
is_a: MONDO:0015885 {source="Orphanet:3163"} ! rare insulin-resistance syndrome
is_a: MONDO:0020087 {source="Orphanet:3163"} ! genetic lipodystrophy
is_a: MONDO:0020210 {source="Orphanet:3163"} ! syndromic hyperopia
is_a: MONDO:0020222 {source="Orphanet:3163"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:3163"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3163"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537327
property_value: exactMatch http://identifiers.org/omim/269880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878684
property_value: exactMatch Orphanet:3163

[Term]
id: MONDO:0010027
name: free sialic acid storage disease, infantile form
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:309324"}
synonym: "infantile free sialic acid storage disease" RELATED [GARD:0000175]
synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical, OMIM:269920]
synonym: "infantile sialic acid storage disease; ISSD" RELATED [OMIM:269920]
synonym: "infantile sialic acid storage disorder" RELATED [GARD:0000175]
synonym: "ISSD" EXACT [GARD:0000175, MONDO:Lexical, OMIM:269920, Orphanet:309324]
synonym: "N-acetylneuraminic acid storage disease" RELATED [OMIM:269920]
synonym: "Nana storage disease" RELATED [OMIM:269920]
synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920]
xref: GARD:0000175 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="ORDO:309324/attributed", source="ORDO:309324/ntbt", source="Orphanet:309324"}
xref: MedDRA:10067532 {source="Orphanet:309324", source="ORDO:309324/e"}
xref: OMIM:269920 {source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324", source="ORDO:309324/e"}
xref: Orphanet:309324 {source="MONDO:equivalentTo", source="OMIM:269920"}
xref: SCTID:34566007 {source="MONDO:equivalentTo"}
is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease
is_a: MONDO:0019706 {source="Orphanet:309324", source="Orphanet:309324/inferred"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1096902
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930923
property_value: exactMatch http://identifiers.org/meddra/10067532
property_value: exactMatch http://identifiers.org/omim/269920
property_value: exactMatch http://identifiers.org/snomedct/34566007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1963905
property_value: exactMatch Orphanet:309324

[Term]
id: MONDO:0010028
name: sialuria
def: "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." [Orphanet:3166]
subset: ordo_disease {source="Orphanet:3166"}
synonym: "sialuria" EXACT [OMIM:269921]
synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166]
xref: DOID:3659 {source="MONDO:equivalentTo"}
xref: GARD:0004865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:3166", source="ORDO:3166/attributed", source="ORDO:3166/ntbt"}
xref: ICD9:796.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067529 {source="Orphanet:3166", source="ORDO:3166/e"}
xref: OMIM:269921 {source="Orphanet:3166", source="MONDO:equivalentTo", source="DOID:3659", source="ORDO:3166/e"}
xref: Orphanet:3166 {source="MONDO:equivalentTo", source="OMIM:269921"}
xref: SCTID:238051008 {source="MONDO:equivalentTo", source="DOID:3659", source="MONDO:kboom-pr-0.89/0.76/0.20"}
is_a: MONDO:0017736 {source="Orphanet:3166", source="linkedlifedata"} ! disorder of sialic acid metabolism
is_a: MONDO:0019366 ! free sialic acid storage disease
property_value: closeMatch http://identifiers.org/mesh/D029461
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342853
property_value: exactMatch DOID:3659
property_value: exactMatch http://identifiers.org/meddra/10067529
property_value: exactMatch http://identifiers.org/mesh/C537332
property_value: exactMatch http://identifiers.org/omim/269921
property_value: exactMatch http://identifiers.org/snomedct/238051008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931471
property_value: exactMatch Orphanet:3166

[Term]
id: MONDO:0010029
name: situs inversus
def: "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." [NCIT:P378]
subset: ordo_morphological_anomaly {source="Orphanet:101063"}
synonym: "complete situs inversus" EXACT [Orphanet:101063]
synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063]
synonym: "complete transposition" EXACT EXCLUDE [DOID:758]
synonym: "complete transposition (morphologic abnormality)" EXACT [DOID:758]
synonym: "heterotaxy, visceral, 5, autosomal" RELATED [MONDO:Lexical, OMIM:270100]
synonym: "heterotaxy, visceral, 5, autosomal; HTX5" RELATED [OMIM:270100]
synonym: "HTX5" RELATED [MONDO:Lexical, OMIM:270100]
synonym: "laterality sequence" EXACT [DOID:758]
synonym: "situs ambiguus" EXACT [NCIT:C87121]
synonym: "situs inversus" EXACT [Orphanet:101063]
synonym: "situs inversus totalis" EXACT [MONDO:ambiguous]
synonym: "situs inversus totalis (disease)" EXACT [MONDO:0015098]
synonym: "situs inversus viscerum" RELATED [OMIM:270100]
synonym: "SIV" RELATED [GARD:0004883]
xref: COHD:193306 {source="MONDO:equivalentTo"}
xref: DOID:758 {source="MONDO:equivalentTo"}
xref: GARD:0004883 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0001696 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q89.3 {source="ORDO:101063/inclusion", source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063", source="ORDO:101063/ntbt"}
xref: ICD9:759.3 {source="DOID:758"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012857 {source="DOID:758", source="MONDO:equivalentTo"}
xref: NCIT:C87121 {source="DOID:758", source="MONDO:kboom-pr-0.95/0.80/1.59", source="MONDO:equivalentTo"}
xref: OMIM:270100 {source="DOID:758", source="MONDO:equivalentTo"}
xref: Orphanet:101063 {source="MONDO:equivalentTo"}
xref: SCTID:24614000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0017131 {source="Orphanet:101063"} ! genetic cardiac anomaly
is_a: MONDO:0018677 {source="DC-OMIM:270100", source="DOID:758", source="MONDOLEX:0010029", source="OMIM:270100", source="Orphanet:101063"} ! visceral heterotaxy
property_value: closeMatch http://identifiers.org/snomedct/157025003
property_value: closeMatch http://identifiers.org/snomedct/157033002
property_value: closeMatch http://identifiers.org/snomedct/205765000
property_value: closeMatch http://identifiers.org/snomedct/205770007
property_value: closeMatch http://identifiers.org/snomedct/254257004
property_value: closeMatch http://identifiers.org/snomedct/268359006
property_value: closeMatch http://identifiers.org/snomedct/27317008
property_value: closeMatch http://identifiers.org/snomedct/43876007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037221
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495537
property_value: exactMatch DOID:758
property_value: exactMatch http://identifiers.org/mesh/D012857
property_value: exactMatch http://identifiers.org/omim/270100
property_value: exactMatch http://identifiers.org/snomedct/24614000
property_value: exactMatch NCIT:C87121
property_value: exactMatch Orphanet:101063

[Term]
id: MONDO:0010030
name: Sjogren syndrome
def: "an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" [https://rarediseases.info.nih.gov/diseases/10252/sjogren-syndrome]
comment: Editor note: check for differences with Mik PMID:10845583
subset: ordo_disease
synonym: "primary Sjogren-Gougerot syndrome" EXACT [Orphanet:289390]
synonym: "primary Sjögren syndrome" RELATED [Orphanet:289390]
synonym: "primary Sjögren-Gougerot syndrome" EXACT [Orphanet:289390]
synonym: "sicca syndrome" EXACT [DOID:12894, ICD9CM_2006:710.2, OMIM:270150]
synonym: "Sjogren syndrome" EXACT [DOID:12894, OMIM:270150]
synonym: "Sjogren's syndrome" RELATED [DOID:12894]
synonym: "Sjögren syndrome" EXACT [NCIT:C26883]
synonym: "syndrome, Sjogren's" EXACT [NCIT:C26883]
synonym: "xerodermosteosis" EXACT [CSP2005:0729-8405, DOID:12894]
xref: DOID:12894 {source="MONDO:equivalentTo", source="EFO:0000699"}
xref: EFO:0000699 {source="MONDO:equivalentTo"}
xref: GARD:0010252 {source="MONDO:equivalentTo"}
xref: ICD10:M35.0 {source="DOID:12894"}
xref: ICD10:M35.00 {source="DOID:12894"}
xref: ICD9:710.2 {source="MONDO:equivalentTo", source="EFO:0000699", source="i2s", source="DOID:12894"}
xref: MESH:D012859 {source="MONDO:equivalentTo", source="EFO:0000699", source="MONDO:ontobio", source="DOID:12894"}
xref: NCIT:C26883 {source="MONDO:kboom-pr-0.89/0.78/0.06", source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"}
xref: OMIM:270150 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"}
xref: Orphanet:289390 {source="MONDO:equivalentTo"}
xref: SCTID:83901003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63", source="DOID:12894"}
is_a: MONDO:0000586 ! autoimmune disease of exocrine system
is_a: MONDO:0001142 {source="MESH:D012859/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! salivary gland disease
is_a: MONDO:0002254 {source="MONDOLEX:0010030", source="NCIT:C26883"} ! syndromic disease
is_a: MONDO:0015939 {source="Orphanet:289390"} ! systemic autoimmune disease
is_a: MONDO:0024625 ! disorder of lacrimal gland
relationship: disease_shares_features_of MONDO:0019191 {source="PMID:10845583"} ! IgG4-related dacryoadenitis and sialadenitis
property_value: closeMatch http://identifiers.org/snomedct/156455009
property_value: closeMatch http://identifiers.org/snomedct/201444003
property_value: closeMatch http://identifiers.org/snomedct/267875002
property_value: closeMatch http://identifiers.org/snomedct/268050000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086981
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527336
property_value: closeMatch NCIT:C70647
property_value: closeMatch Orphanet:378
property_value: exactMatch DOID:12894
property_value: exactMatch http://identifiers.org/mesh/D012859
property_value: exactMatch http://identifiers.org/omim/270150
property_value: exactMatch http://identifiers.org/snomedct/83901003
property_value: exactMatch NCIT:C26883
property_value: exactMatch Orphanet:289390

[Term]
id: MONDO:0010031
name: Sjogren-Larsson syndrome
def: "SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." [Orphanet:816]
subset: gard_rare {source="GARD:0007654"}
subset: ordo_disease {source="Orphanet:816"}
synonym: "FADH deficiency" RELATED [GARD:0007654]
synonym: "FALDH deficiency" RELATED [OMIM:270200]
synonym: "FAO deficiency" RELATED [GARD:0007654]
synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [Orphanet:816]
synonym: "fatty alcohol:NAD+ oxidoreductase deficiency" RELATED [OMIM:270200]
synonym: "fatty aldehyde dehydrogenase deficiency" RELATED [OMIM:270200]
synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" RELATED [OMIM:270200]
synonym: "Sjogren Larsson syndrome" EXACT [CSP2005:0726-9470, CSP2005:1840-2225, CSP2005:2057-3666, DOID:14501]
synonym: "Sjogren-Larsson syndrome" EXACT [MONDO:Lexical, OMIM:270200]
synonym: "Sjogren-Larsson syndrome; SLS" RELATED [OMIM:270200]
synonym: "Sjogren-Larsson's syndrome" EXACT [DOID:14501]
synonym: "Sjögren-Larsson syndrome" RELATED [GARD:0007654]
synonym: "SLS" RELATED [MONDO:Lexical, OMIM:270200]
xref: DOID:14501 {source="MONDO:equivalentTo"}
xref: EFO:0007031 {source="MONDO:equivalentTo"}
xref: GARD:0007654 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:816/index", source="ORDO:816/e", source="Orphanet:816"}
xref: MedDRA:10048676 {source="ORDO:816/e", source="Orphanet:816"}
xref: MESH:D016111 {source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="MONDO:ontobio", source="DOID:14501"}
xref: NCIT:C85070 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14501"}
xref: OMIM:270200 {source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="DOID:14501"}
xref: Orphanet:816 {source="MONDO:equivalentTo", source="OMIM:270200"}
xref: SCTID:111303009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.39", source="DOID:14501"}
xref: UMLS:C0037231 {source="NCIT:C85070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="DOID:14501", source="OMIM:270200"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017265 ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017272 {source="Orphanet:816"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0018118 {source="Orphanet:816"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019046 {source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:816"} ! neurometabolic disease
is_a: MONDO:0020244 {source="Orphanet:816"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020269 {source="Orphanet:816"} ! syndromic ichthyosis associated with ocular features
is_a: MONDO:0020280 {source="Orphanet:816"} ! metabolic disease with cataract
is_a: MONDO:0020281 {source="Orphanet:816"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://identifiers.org/snomedct/205549003
property_value: exactMatch DOID:14501
property_value: exactMatch http://identifiers.org/meddra/10048676
property_value: exactMatch http://identifiers.org/mesh/D016111
property_value: exactMatch http://identifiers.org/omim/270200
property_value: exactMatch http://identifiers.org/snomedct/111303009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037231
property_value: exactMatch NCIT:C85070
property_value: exactMatch Orphanet:816
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome xsd:anyURI {source="GARD:0007654"}

[Term]
id: MONDO:0010032
name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement
synonym: "ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement" RELATED [OMIM:270220]
synonym: "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" EXACT [OMIM:270220]
synonym: "Sjogren-Larsson-like syndrome" RELATED [GARD:0004885]
xref: GARD:0004885 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536668 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270220 {source="MONDO:equivalentTo"}
xref: UMLS:C1849195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270220"}
is_a: MONDO:0003847 {source="MESH:C536668/inferred"} ! Mendelian disease
relationship: disease_shares_features_of MONDO:0010031 ! Sjogren-Larsson syndrome
property_value: exactMatch http://identifiers.org/mesh/C536668
property_value: exactMatch http://identifiers.org/omim/270220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849195

[Term]
id: MONDO:0010033
name: generalized peeling skin syndrome
def: "Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." [Orphanet:263543]
subset: ordo_disease {source="Orphanet:263543"}
synonym: "generalized deciduous skin" EXACT [Orphanet:263543]
synonym: "generalized PSS" EXACT [Orphanet:263543]
synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300]
synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300]
synonym: "PSS1" RELATED [MONDO:Lexical, OMIM:270300]
xref: GARD:0012862 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q80.8 {source="ORDO:263543/attributed", source="ORDO:263543/ntbt", source="Orphanet:263543"}
xref: Orphanet:263543 {source="MONDO:equivalentTo", source="OMIM:270300"}
xref: SCTID:718749004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4305156 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202304 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019347 {source="DC-OMIM:270300", source="OMIM:270300", source="Orphanet:263543"} ! peeling skin syndrome
property_value: exactMatch http://identifiers.org/snomedct/718749004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202304
property_value: exactMatch Orphanet:263543

[Term]
id: MONDO:0010034
name: anosmia for butyl mercaptan
comment: Editor note: consider obsoleting and replacing with OBA trait
synonym: "skunk N-butyl mercaptan, inability to smell" RELATED [OMIM:270350]
synonym: "skunk N-BUTYLMERCAPTAN, inability to smell" RELATED [OMIM:270350]
xref: OMIM:270350 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849192
property_value: exactMatch http://identifiers.org/omim/270350

[Term]
id: MONDO:0010035
name: Smith-Lemli-Opitz syndrome
def: "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." [Orphanet:818]
subset: gard_rare {source="GARD:0005683"}
subset: ordo_malformation_syndrome {source="Orphanet:818"}
synonym: "7-dehydrocholesterol reductase deficiency" EXACT [Orphanet:818]
synonym: "lethal acrodysgenital syndrome" RELATED [OMIM:270400]
synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobar lung" RELATED [OMIM:270400]
synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" RELATED [GARD:0005683]
synonym: "RSH syndrome" EXACT [OMIM:270400, Orphanet:818]
synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [DOID:14692, OMIM:270400]
synonym: "SLO syndrome" EXACT [OMIM:270400]
synonym: "SLOS" EXACT [MONDO:Lexical, OMIM:270400, Orphanet:818]
synonym: "Smith Lemli Opitz syndrome" RELATED [GARD:0005683]
synonym: "Smith-Lemli-Opitz syndrome" EXACT [MONDO:Lexical, OMIM:270400]
synonym: "Smith-Lemli-Opitz syndrome; SLOS" EXACT [OMIM:270400]
synonym: "Smith-Opitz-inborn syndrome" EXACT [CSP2005:5002-0023, DOID:14692]
xref: DOID:14692 {source="MONDO:equivalentTo"}
xref: GARD:0005683 {source="MONDO:equivalentTo"}
xref: ICD10:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:818/ntbt", source="Orphanet:818", source="ORDO:818/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D019082 {source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818", source="MONDO:ontobio"}
xref: NCIT:C85071 {source="DOID:14692", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:270400 {source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818"}
xref: Orphanet:818 {source="OMIM:270400", source="MONDO:equivalentTo"}
xref: SCTID:43929004 {source="DOID:14692", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0175694 {source="OMIM:270400", source="NCIT:C85071", source="NCBI:mim2gene_medline", source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:818"} ! syndromic developmental defect of the eye
is_a: MONDO:0015329 {source="Orphanet:818"} ! malformation syndrome with short stature
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0015919 {source="Orphanet:818"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017434 {source="Orphanet:818"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0017971 {source="Orphanet:818"} ! 46,XY disorder of sex development due to a cholesterol synthesis defect
is_a: MONDO:0018236 ! dysostosis with limb and face anomalies as a major feature
is_a: MONDO:0019721 {source="Orphanet:818"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020165 {source="Orphanet:818"} ! syndromic epicanthus
is_a: MONDO:0020169 {source="Orphanet:818"} ! rare disorder with ptosis
is_a: MONDO:0020234 {source="Orphanet:818"} ! craniofacial anomaly with cataract
is_a: MONDO:0020280 {source="Orphanet:818"} ! metabolic disease with cataract
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045017 ! cholesterol biosynthetic process disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282644
property_value: exactMatch DOID:14692
property_value: exactMatch http://identifiers.org/mesh/D019082
property_value: exactMatch http://identifiers.org/omim/270400
property_value: exactMatch http://identifiers.org/snomedct/43929004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713347
property_value: exactMatch NCIT:C85071
property_value: exactMatch Orphanet:818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome xsd:anyURI {source="GARD:0005683"}

[Term]
id: MONDO:0010036
name: congenital secretory sodium diarrhea 3
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [DOID:0060781]
synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [DOID:0060781]
synonym: "congenital secretory sodium diarrhea type 3" EXACT [DOID:0060781, MONDORULE:1]
synonym: "DIAR3" RELATED [MONDO:Lexical, OMIM:270420]
synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [OMIM:270420]
synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical, OMIM:270420]
synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies; DIAR3" RELATED [OMIM:270420]
synonym: "secretory diarrhea caused by mutation in SPINT2" EXACT [MONDO:design_pattern]
synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420]
synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060781 {source="MONDO:equivalentTo"}
xref: ICD10:P78.3 {source="DOID:0060781"}
xref: OMIM:270420 {source="DOID:0060781", source="MONDO:equivalentTo"}
is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea
is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267663
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678346
property_value: exactMatch DOID:0060781
property_value: exactMatch http://identifiers.org/omim/270420

[Term]
id: MONDO:0010037
name: sodium-potassium-ATPase activity of red cell
synonym: "sodium pump sites, number of" RELATED [OMIM:270425]
synonym: "sodium-potassium-ATPase activity of red cell" EXACT [OMIM:270425]
xref: OMIM:270425 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849169
property_value: exactMatch http://identifiers.org/omim/270425

[Term]
id: MONDO:0010038
name: growth delay due to insulin-like growth factor I resistance
def: "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." [Orphanet:73273]
subset: gard_rare
subset: ordo_disease {source="Orphanet:73273"}
synonym: "IGF-1 resistance" RELATED [GARD:0010609]
synonym: "IGF-I resistance" RELATED [OMIM:270450]
synonym: "IGF1RES" RELATED [OMIM:270450]
synonym: "insulin-like growth factor 1 resistance to" RELATED [GARD:0010609]
synonym: "insulin-like growth factor I, resistance to" RELATED [OMIM:270450]
synonym: "insulin-like Growth Factor I, resistance to, due to increased binding Protein" RELATED [OMIM:270450]
synonym: "insulin-like growth factor I, resistance to; IGF1RES" RELATED [OMIM:270450]
synonym: "resistance to IGF-1" EXACT [Orphanet:73273]
synonym: "Somatomedin end-organ insensitivity to" RELATED [GARD:0010609]
synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450]
synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609]
synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450]
xref: GARD:0010609 {source="MONDO:equivalentTo"}
xref: ICD10:E34.3 {source="ORDO:73273/attributed", source="ORDO:73273/ntbt", source="Orphanet:73273"}
xref: OMIM:270450 {source="GARD:0010609", source="MONDO:equivalentTo", source="ORDO:73273/e", source="Orphanet:73273"}
xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source="OMIM:270450"}
xref: SCTID:715625007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1849157 {source="GARD:0010609", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270450", source="Orphanet:73273"}
is_a: MONDO:0015892 {source="Orphanet:73273"} ! growth hormone insensitivity syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849158
property_value: exactMatch http://identifiers.org/omim/270450
property_value: exactMatch http://identifiers.org/snomedct/715625007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849157
property_value: exactMatch Orphanet:73273
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to xsd:anyURI {source="GARD:0010609"}

[Term]
id: MONDO:0010039
name: congenital heart defect-round face-developmental delay syndrome
def: "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." [Orphanet:1355]
subset: ordo_malformation_syndrome {source="Orphanet:1355"}
synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460]
synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355]
xref: GARD:0004905 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1355", source="ORDO:1355/attributed", source="ORDO:1355/ntbt"}
xref: MESH:C536680 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270460 {source="ORDO:1355/e", source="Orphanet:1355", source="MONDO:equivalentTo"}
xref: Orphanet:1355 {source="MONDO:equivalentTo", source="OMIM:270460"}
xref: SCTID:715987000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0796162 {source="ORDO:1355/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:1355", source="MONDO:equivalentTo", source="OMIM:270460"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1355", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536680
property_value: exactMatch http://identifiers.org/omim/270460
property_value: exactMatch http://identifiers.org/snomedct/715987000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796162
property_value: exactMatch Orphanet:1355

[Term]
id: MONDO:0010040
name: ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" EXACT [OMIM:270500]
xref: OMIM:270500 {source="MONDO:equivalentTo"}
xref: UMLS:C3151619 {source="OMIM:270500", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/270500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151619

[Term]
id: MONDO:0010041
name: Charlevoix-Saguenay spastic ataxia
def: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." [Orphanet:98]
subset: ordo_disease {source="Orphanet:98"}
synonym: "ARSACS" EXACT [Orphanet:98]
synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [OMIM:270550]
synonym: "autosomal recessive spastic ataxia type 6" EXACT [Orphanet:98]
synonym: "Charlevoix-Saguenay spastic ataxia" EXACT [OMIM:270550]
synonym: "sacs" RELATED [MONDO:Lexical, OMIM:270550]
synonym: "spastic ataxia 6, autosomal recessive" RELATED [OMIM:270550]
synonym: "spastic ataxia Charlevoix-Saguenay type" RELATED [GARD:0004910]
synonym: "spastic ataxia of Charlevoix-Saguenay" RELATED [GARD:0004910]
synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM:270550]
synonym: "spastic ataxia, Charlevoix-Saguenay type; sacs" RELATED [OMIM:270550]
synonym: "SPAX6" EXACT [Orphanet:98]
xref: DOID:0050946 {source="MONDO:equivalentTo"}
xref: GARD:0004910 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:98", source="ORDO:98/attributed", source="ORDO:98/ntbt"}
xref: MESH:C536787 {source="Orphanet:98", source="ORDO:98/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270550 {source="Orphanet:98", source="ORDO:98/e", source="MONDO:equivalentTo", source="DOID:0050946"}
xref: Orphanet:98 {source="MONDO:equivalentTo", source="OMIM:270550"}
xref: SCTID:702445005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.08"}
xref: UMLS:C1849140 {source="Orphanet:98", source="ORDO:98/e", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270550"}
is_a: MONDO:0017847 {source="MONDO:Redundant", source="MONDOLEX:0010041", source="Orphanet:98"} ! autosomal recessive spastic ataxia
property_value: exactMatch DOID:0050946
property_value: exactMatch http://identifiers.org/mesh/C536787
property_value: exactMatch http://identifiers.org/omim/270550
property_value: exactMatch http://identifiers.org/snomedct/702445005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849140
property_value: exactMatch Orphanet:98

[Term]
id: MONDO:0010042
name: spastic diplegia and mental retardation
synonym: "hereditary spastic diplegia with mental retardation" RELATED [GARD:0004911]
synonym: "spastic diplegia and mental retardation" EXACT [OMIM:270600]
synonym: "spastic diplegia infantile type" RELATED [GARD:0004911]
synonym: "spastic diplegia, infantile type" RELATED [OMIM:270600]
xref: GARD:0004911 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537481 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270600 {source="MONDO:equivalentTo"}
xref: UMLS:C1849139 {source="OMIM:270600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C537481/inferred"} ! Mendelian disease
property_value: closeMatch Orphanet:1680
property_value: exactMatch http://identifiers.org/mesh/C537481
property_value: exactMatch http://identifiers.org/omim/270600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849139

[Term]
id: MONDO:0010043
name: hereditary spastic paraplegia 17
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:100998"}
synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770]
synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770]
synonym: "BSCL2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dHMN5B" EXACT [DOID:0110770]
synonym: "distal hereditary motor neuropathy type 5B" EXACT [DOID:0110770]
synonym: "hereditary spastic paraplegia caused by mutation in BSCL2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 17" EXACT [DOID:0110770, MONDORULE:2]
synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770]
synonym: "Silver syndrome" EXACT [DOID:0110770, Orphanet:100998]
synonym: "spastic paraplegia 17" RELATED [GARD:0004219]
synonym: "spastic paraplegia 17, autosomal dominant" RELATED [MONDO:Lexical, OMIM:270685]
synonym: "spastic paraplegia 17, autosomal dominant; SPG17" RELATED [OMIM:270685]
synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [DOID:0110770, OMIM:270685]
synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, Orphanet:100998]
synonym: "SPG17" EXACT [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998]
xref: DOID:0110770 {source="MONDO:equivalentTo"}
xref: GARD:0004219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100998/attributed", source="ORDO:100998/ntbt", source="Orphanet:100998", source="DOID:0110770"}
xref: MESH:C536644 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="ORDO:100998/e", source="DOID:0110770"}
xref: Orphanet:100998 {source="MONDO:equivalentTo", source="DOID:0110770", source="OMIM:270685"}
xref: UMLS:C2931276 {source="MONDO:equivalentTo", source="Orphanet:100998", source="MEDGEN:kboom-pr92-c96", source="OMIM:270685"}
xref: UMLS:CN074197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015087 {source="Orphanet:100998"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0015362 {source="Orphanet:100998"} ! autosomal dominant distal hereditary motor neuropathy
property_value: exactMatch DOID:0110770
property_value: exactMatch http://identifiers.org/mesh/C536644
property_value: exactMatch http://identifiers.org/omim/270685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074197
property_value: exactMatch Orphanet:100998

[Term]
id: MONDO:0010044
name: hereditary spastic paraplegia 15
def: "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." [Orphanet:100996]
subset: ordo_disease {source="Orphanet:100996"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768]
synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768]
synonym: "hereditary spastic paraparesis type 15" EXACT [DOID:0110768, Orphanet:100996]
synonym: "hereditary spastic paraplegia type 15" EXACT [DOID:0110768, MONDORULE:2]
synonym: "Kjellin syndrome" EXACT [DOID:0110768, OMIM:270700, Orphanet:100996]
synonym: "recessive spastic paraplegia with retinal degeneration" RELATED [GARD:0009581]
synonym: "spastic paraplegia 15" RELATED [GARD:0009581]
synonym: "spastic paraplegia 15, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270700]
synonym: "spastic paraplegia 15, autosomal recessive; SPG15" RELATED [OMIM:270700]
synonym: "spastic paraplegia and retinal Degeneration" RELATED [OMIM:270700]
synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768]
synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, Orphanet:100996]
synonym: "SPG15" EXACT [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996]
synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110768 {source="MONDO:equivalentTo"}
xref: GARD:0009581 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100996/attributed", source="ORDO:100996/ntbt", source="DOID:0110768", source="Orphanet:100996"}
xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e", source="MONDO:ontobio"}
xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e"}
xref: Orphanet:100996 {source="OMIM:270700", source="DOID:0110768", source="MONDO:equivalentTo"}
xref: SCTID:709417000 {source="MONDO:kboom-pr-1.00/0.76/8.40", source="MONDO:equivalentTo"}
xref: UMLS:C1849128 {source="OMIM:270700", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:100996"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110768
property_value: exactMatch http://identifiers.org/mesh/C536642
property_value: exactMatch http://identifiers.org/omim/270700
property_value: exactMatch http://identifiers.org/snomedct/709417000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849128
property_value: exactMatch Orphanet:100996

[Term]
id: MONDO:0010045
name: paraplegia-brachydactyly-cone-shaped epiphysis syndrome
def: "This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." [Orphanet:2823]
subset: ordo_malformation_syndrome {source="Orphanet:2823"}
synonym: "Fitzsimmons syndrome" RELATED [OMIM:270710]
synonym: "FITZSIMMONS-Guilbert syndrome" RELATED [OMIM:270710]
synonym: "Fitzsimmons-Guilbert syndrome" EXACT [Orphanet:2823]
synonym: "moved to 270550, 190350, and 616944" RELATED [OMIM:270710]
synonym: "spastic paraplegia associated with brachydactyly type E" RELATED [OMIM:270710]
xref: GARD:0002343 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G82.1 {source="ORDO:2823/attributed", source="ORDO:2823/ntbt", source="Orphanet:2823"}
xref: MESH:C537938 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270710 {source="MONDO:equivalentTo", source="Orphanet:2823", source="ORDO:2823/e"}
xref: Orphanet:2823 {source="OMIM:270710", source="MONDO:equivalentTo"}
xref: UMLS:C0795942 {source="OMIM:270710", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2823", source="ORDO:2823/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019066 {source="Orphanet:2823"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C537938
property_value: exactMatch http://identifiers.org/omim/270710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795942
property_value: exactMatch Orphanet:2823

[Term]
id: MONDO:0010046
name: hereditary spastic paraplegia 23
def: "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." [Orphanet:101003]
subset: ordo_disease {source="Orphanet:101003"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003]
synonym: "DSTYK autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 23" EXACT [DOID:0110774, MONDORULE:2]
synonym: "Lison syndrome" EXACT [DOID:0110774, Orphanet:101003]
synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" RELATED [OMIM:270750]
synonym: "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [DOID:0110774, Orphanet:101003]
synonym: "spastic paraplegia 23" EXACT [DOID:0110774]
synonym: "spastic paraplegia 23" RELATED [MONDO:Lexical, OMIM:270750]
synonym: "spastic paraplegia 23; SPG23" RELATED [OMIM:270750]
synonym: "spastic paraplegia and pigmentary abnormalities" RELATED [GARD:0000336]
synonym: "spastic paraplegia vitiligo premature graying and characteristic facies" RELATED [GARD:0000336]
synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [DOID:0110774, OMIM:270750]
synonym: "SPG 23" RELATED [GARD:0000336]
synonym: "SPG23" EXACT [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003]
xref: DOID:0110774 {source="MONDO:equivalentTo"}
xref: GARD:0000336 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:101003", source="ORDO:101003/attributed", source="ORDO:101003/ntbt", source="DOID:0110774"}
xref: MESH:C536859 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270750 {source="Orphanet:101003", source="ORDO:101003/e", source="MONDO:equivalentTo", source="DOID:0110774"}
xref: Orphanet:101003 {source="MONDO:equivalentTo", source="DOID:0110774", source="OMIM:270750"}
xref: SCTID:726608002 {source="MONDO:equivalentTo"}
xref: UMLS:C0796019 {source="Orphanet:101003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:270750"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:101003"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110774
property_value: exactMatch http://identifiers.org/mesh/C536859
property_value: exactMatch http://identifiers.org/omim/270750
property_value: exactMatch http://identifiers.org/snomedct/726608002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796019
property_value: exactMatch Orphanet:101003

[Term]
id: MONDO:0010047
name: hereditary spastic paraplegia 5A
def: "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." [Orphanet:100986]
comment: OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. {source="OMIM:270800"}
subset: ordo_disease {source="Orphanet:100986"}
synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926]
synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810]
synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810]
synonym: "CYP7B1 pure or complex autosomal recessive spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 5A" EXACT [DOID:0110810, MONDORULE:4]
synonym: "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" EXACT [MONDO:design_pattern]
synonym: "spastic paraplegia 5A" RELATED [GARD:0004926]
synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270800]
synonym: "spastic paraplegia 5A, autosomal recessive; SPG5A" RELATED [OMIM:270800]
synonym: "spastic paraplegia type 5A" RELATED [GARD:0004926]
synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800]
synonym: "SPG5A" EXACT [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986]
xref: DOID:0110810 {source="MONDO:equivalentTo"}
xref: GARD:0004926 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110810", source="ORDO:100986/attributed", source="ORDO:100986/ntbt", source="Orphanet:100986"}
xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="ORDO:100986/e", source="Orphanet:100986"}
xref: Orphanet:100986 {source="DOID:0110810", source="OMIM:270800", source="MONDO:equivalentTo"}
xref: SCTID:763373005 {source="MONDO:equivalentTo"}
xref: UMLS:C1849115 {source="NCBI:mim2gene_medline", source="OMIM:270800", source="MONDO:equivalentTo", source="Orphanet:100986", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C2931357 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017915 {source="MONDO:Redundant", source="Orphanet:100986"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0110810
property_value: exactMatch http://identifiers.org/mesh/C536871
property_value: exactMatch http://identifiers.org/omim/270800
property_value: exactMatch http://identifiers.org/snomedct/763373005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931357
property_value: exactMatch Orphanet:100986

[Term]
id: MONDO:0010048
name: spastic paraplegia with myoclonic epilepsy
synonym: "spastic paraplegia with myoclonic epilepsy" EXACT [OMIM:270805]
xref: MESH:C564810 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270805 {source="MONDO:equivalentTo"}
xref: UMLS:C1849114 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270805"}
is_a: MONDO:0003847 {source="MESH:C564810/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564810
property_value: exactMatch http://identifiers.org/omim/270805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849114

[Term]
id: MONDO:0010049
name: spastic paraplegia-glaucoma-intellectual disability syndrome
def: "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." [Orphanet:2818]
subset: ordo_disease {source="Orphanet:2818"}
synonym: "spastic paresis glaucoma mental retardation" RELATED [GARD:0004931]
synonym: "spastic paresis, glaucoma, and mental retardation" RELATED [OMIM:270850]
xref: GARD:0004931 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C564809 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270850 {source="MONDO:equivalentTo", source="Orphanet:2818", source="ORDO:2818/e"}
xref: Orphanet:2818 {source="MONDO:equivalentTo", source="OMIM:270850"}
xref: UMLS:C1849113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270850", source="Orphanet:2818"}
is_a: MONDO:0000508 {source="Orphanet:2818"} ! syndromic intellectual disability
is_a: MONDO:0015089 {source="Orphanet:2818"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://identifiers.org/mesh/C564809
property_value: exactMatch http://identifiers.org/omim/270850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849113
property_value: exactMatch Orphanet:2818

[Term]
id: MONDO:0010050
name: spastic pseudosclerosis
synonym: "Corticopallidodegeneration" RELATED [OMIM:270900]
synonym: "disseminated encephalomyelopathy" RELATED [OMIM:270900]
synonym: "spastic pseudosclerosis" EXACT [OMIM:270900]
xref: MESH:C563024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270900 {source="MONDO:equivalentTo"}
xref: UMLS:C0599464 {source="OMIM:270900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563024
property_value: exactMatch http://identifiers.org/omim/270900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0599464

[Term]
id: MONDO:0010051
name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
def: "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." [Orphanet:3011]
subset: ordo_disease {source="Orphanet:3011"}
synonym: "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss" RELATED [GARD:0004932]
synonym: "spastic quadriplegia retinitis pigmentosa mental retardation" RELATED [GARD:0004932]
synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED [OMIM:270950]
synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011]
xref: GARD:0004932 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564808 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270950 {source="MONDO:equivalentTo", source="Orphanet:3011", source="ORDO:3011/e"}
xref: Orphanet:3011 {source="OMIM:270950", source="MONDO:equivalentTo"}
xref: UMLS:C1849112 {source="OMIM:270950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3011"}
is_a: MONDO:0000508 {source="Orphanet:3011"} ! syndromic intellectual disability
is_a: MONDO:0020240 {source="Orphanet:3011"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C564808
property_value: exactMatch http://identifiers.org/omim/270950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849112
property_value: exactMatch Orphanet:3011

[Term]
id: MONDO:0010052
name: spermatogenic failure 4
def: "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "arrest of spermatogenesis" RELATED [GARD:0008530]
synonym: "azoospermia caused by mutation in SYCP3" EXACT [MONDO:design_pattern]
synonym: "azoospermia due to Perturbations of meiosis" RELATED [OMIM:270960]
synonym: "azoospermia with maturation arrest" RELATED [OMIM:270960]
synonym: "pregnancy loss, recurrent, 4" RELATED [OMIM:270960]
synonym: "pregnancy loss, recurrent, susceptibility to, 4" RELATED [OMIM:270960]
synonym: "spermatogenesis arrest" RELATED [OMIM:270960]
synonym: "spermatogenic failure 4" EXACT [MONDO:Lexical, OMIM:270960]
synonym: "spermatogenic failure 4; SPGF4" RELATED [OMIM:270960]
synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1, OMIM:270960]
synonym: "SPGF4" RELATED [MONDO:Lexical, OMIM:270960]
synonym: "SYCP3 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070176 {source="MONDO:equivalentTo"}
xref: GARD:0008530 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270960 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:270960", source="MESH:C536875", source="MONDO:Redundant", source="OMIM:270960"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0232981
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279437
property_value: exactMatch DOID:0070176
property_value: exactMatch http://identifiers.org/mesh/C536875
property_value: exactMatch http://identifiers.org/omim/270960

[Term]
id: MONDO:0010053
name: hereditary spherocytosis type 3
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 3" EXACT [DOID:0110918]
synonym: "hereditary spherocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern]
synonym: "HS3" EXACT [DOID:0110918]
synonym: "SPH3" EXACT [DOID:0110918, MONDO:Lexical, OMIM:270970]
synonym: "spherocytosis, hereditary, 3" RELATED [OMIM:270970]
synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical, OMIM:270970]
synonym: "spherocytosis, type 3; SPH3" RELATED [OMIM:270970]
synonym: "SPTA1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110918 {source="MONDO:equivalentTo"}
xref: MESH:C567489 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:270970 {source="MONDO:equivalentTo", source="DOID:0110918"}
xref: UMLS:C2678338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270970"}
is_a: MONDO:0019350 {source="DOID:0110918", source="MESH:C567489", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
property_value: exactMatch DOID:0110918
property_value: exactMatch http://identifiers.org/mesh/C567489
property_value: exactMatch http://identifiers.org/omim/270970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678338

[Term]
id: MONDO:0010054
name: spinal muscular atrophy with mental retardation
synonym: "spinal muscular atrophy with mental retardation" EXACT [OMIM:271109]
xref: MESH:C564807 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271109 {source="MONDO:equivalentTo"}
xref: UMLS:C1849109 {source="OMIM:271109", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564807
property_value: exactMatch http://identifiers.org/omim/271109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849109

[Term]
id: MONDO:0010055
name: spinal muscular atrophy with microcephaly and mental subnormality
synonym: "spinal muscular atrophy with microcephaly and mental subnormality" EXACT [OMIM:271110]
xref: MESH:C564806 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271110 {source="MONDO:equivalentTo"}
xref: UMLS:C1849108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271110"}
is_a: MONDO:0003847 {source="MESH:C564806/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564806
property_value: exactMatch http://identifiers.org/omim/271110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849108

[Term]
id: MONDO:0010056
name: adult spinal muscular atrophy
def: "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83420]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:83420"}
synonym: "adult-onset spinal muscular atrophy" RELATED [GARD:0000564]
synonym: "proximal spinal muscular atrophy type 4" RELATED [Orphanet:83420]
synonym: "SMA 4" RELATED [GARD:0000564]
synonym: "SMA type 4" EXACT [Orphanet:83420]
synonym: "SMA type IV" EXACT [Orphanet:83420]
synonym: "SMA-IV" EXACT [Orphanet:83420]
synonym: "SMA4" EXACT [Orphanet:83420]
synonym: "SMA4" RELATED [MONDO:Lexical, OMIM:271150]
synonym: "spinal muscular atrophy 4" RELATED [GARD:0000564]
synonym: "spinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "spinal muscular atrophy type 4" RELATED [GARD:0000564]
synonym: "spinal muscular atrophy, adult form" EXACT [DOID:0050529, GARD:0000564, OMIM:271150, Orphanet:83420]
synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" RELATED [GARD:0000564, OMIM:271150]
synonym: "spinal muscular atrophy, type 4" RELATED [OMIM:271150]
synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, OMIM:271150]
synonym: "spinal muscular atrophy, type IV; SMA4" RELATED [OMIM:271150]
xref: DOID:0050529 {source="MONDO:equivalentTo"}
xref: GARD:0000564 {source="MONDO:equivalentTo"}
xref: ICD10:G12.1 {source="Orphanet:83420", source="ORDO:83420/inclusion", source="ORDO:83420/ntbt"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:271150 {source="ORDO:83420/e", source="Orphanet:83420", source="MONDO:equivalentTo", source="DOID:0050529"}
xref: Orphanet:83420 {source="MONDO:equivalentTo", source="OMIM:271150"}
xref: SCTID:85505000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0009669 {source="DOID:0050529", source="MONDOLEX:0010056"} ! Werdnig-Hoffmann disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838230
property_value: exactMatch DOID:0050529
property_value: exactMatch http://identifiers.org/omim/271150
property_value: exactMatch http://identifiers.org/snomedct/85505000
property_value: exactMatch Orphanet:83420

[Term]
id: MONDO:0010057
name: spinal muscular atrophy, Ryukyuan type
subset: gard_rare {source="GARD:0009646"}
synonym: "Ryukyuan muscular atrophy" RELATED [GARD:0009646]
synonym: "spinal muscular atrophy Ryukyuan type" RELATED [GARD:0009646]
synonym: "spinal muscular atrophy, Ryukyuan type" EXACT [OMIM:271200]
xref: GARD:0009646 {source="MONDO:equivalentTo"}
xref: MESH:C536881 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271200 {source="MONDO:equivalentTo"}
xref: UMLS:C1849102 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271200"}
is_a: MONDO:0001516 {source="DC-OMIM:271200", source="MESH:C536881"} ! spinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C536881
property_value: exactMatch http://identifiers.org/omim/271200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type xsd:anyURI {source="GARD:0009646"}

[Term]
id: MONDO:0010058
name: spinal muscular atrophy, scapuloperoneal
comment: Editor note: consider merge
synonym: "spinal muscular atrophy, scapuloperoneal" EXACT [OMIM:271220]
xref: OMIM:271220 {source="MONDO:equivalentTo"}
xref: UMLS:CN074295 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="DC-OMIM:271220"} ! spinal muscular atrophy
is_a: MONDO:0008408 ! scapuloperoneal spinal muscular atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751335
property_value: exactMatch http://identifiers.org/omim/271220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074295

[Term]
id: MONDO:0010059
name: obsolete spinal muscular atrophy, type I, with congenital bone fractures
comment: OMIM merged these records.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0014806

[Term]
id: MONDO:0010060
name: infantile onset spinocerebellar ataxia
def: "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." [Orphanet:1186]
comment: Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5
subset: ordo_disease {source="Orphanet:1186"}
synonym: "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" EXACT []
synonym: "IOSCA" EXACT [Orphanet:1186]
synonym: "mitochondrial DNA depletion syndrome 7" RELATED [DOID:0080126]
synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" RELATED [MONDO:Lexical, OMIM:271245]
synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7" RELATED [OMIM:271245]
synonym: "mitochondrial DNA depletion syndrome type 7" EXACT [DOID:0080126, MONDORULE:1]
synonym: "MTDPS7" RELATED [MONDO:Lexical, OMIM:271245]
synonym: "OHAHA syndrome" EXACT [DOID:0050556]
synonym: "Ohaha syndrome" EXACT [OMIM:271245, Orphanet:1186]
synonym: "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" RELATED [GARD:0004062]
synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" RELATED [GARD:0004062]
synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" RELATED [OMIM:271245]
synonym: "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" EXACT [Orphanet:1186]
synonym: "SCA8 (formerly)" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia 8" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia 8, formerly" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia infantile with sensory neuropathy" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia, infantile, with sensory neuropathy" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia, infantile-onset" RELATED [OMIM:271245]
synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0050556 {source="MONDO:equivalentTo"}
xref: DOID:0080126 {source="MONDO:equivalentTo"}
xref: GARD:0004062 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:1186", source="ORDO:1186/attributed", source="ORDO:1186/ntbt"}
xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="ORDO:1186/e"}
xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="ORDO:1186/e"}
xref: Orphanet:1186 {source="MONDO:equivalentTo", source="OMIM:271245"}
xref: SCTID:724227000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849096 {source="Orphanet:1186", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1186/e", source="OMIM:271245"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016808 {source="Orphanet:1186"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
is_a: MONDO:0020046 {source="Orphanet:1186"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050556
property_value: exactMatch DOID:0080126
property_value: exactMatch http://identifiers.org/mesh/C535523
property_value: exactMatch http://identifiers.org/omim/271245
property_value: exactMatch http://identifiers.org/snomedct/724227000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849096
property_value: exactMatch Orphanet:1186

[Term]
id: MONDO:0010061
name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome
subset: ordo_disease {source="Orphanet:95433"}
synonym: "autosomal recessive cerebellar ataxia - blindness - deafness" RELATED [GARD:0009971]
synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [Orphanet:95433]
synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" RELATED [Orphanet:95433]
synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [Orphanet:95433]
synonym: "SCABD" EXACT [Orphanet:95433]
synonym: "SCAR3" EXACT [MONDO:Lexical, OMIM:271250, Orphanet:95433]
synonym: "spinocerebellar ataxia autosomal recessive 3" RELATED [GARD:0009971]
synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:271250]
synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250]
synonym: "spinocerebellar ataxia, autosomal recessive 3; SCAR3" RELATED [OMIM:271250]
xref: GARD:0009971 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:95433", source="ORDO:95433/attributed", source="ORDO:95433/ntbt"}
xref: MESH:C537309 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271250 {source="ORDO:95433/e", source="Orphanet:95433", source="MONDO:equivalentTo"}
xref: Orphanet:95433 {source="MONDO:equivalentTo", source="OMIM:271250"}
xref: UMLS:C1849094 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:95433", source="MONDO:equivalentTo", source="OMIM:271250"}
is_a: MONDO:0020047 {source="Orphanet:95433"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C537309
property_value: exactMatch http://identifiers.org/omim/271250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849094
property_value: exactMatch Orphanet:95433

[Term]
id: MONDO:0010062
name: spinocerebellar ataxia-dysmorphism syndrome
def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." [Orphanet:1185]
subset: ordo_disease {source="Orphanet:1185"}
synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270]
xref: GARD:0004958 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:1185/attributed", source="ORDO:1185/ntbt", source="Orphanet:1185"}
xref: MESH:C564802 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271270 {source="MONDO:equivalentTo", source="Orphanet:1185", source="ORDO:1185/e"}
xref: Orphanet:1185 {source="MONDO:equivalentTo", source="OMIM:271270"}
xref: UMLS:C1849088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271270", source="Orphanet:1185"}
is_a: MONDO:0000557 {source="Orphanet:1185"} ! hereditary ataxia
property_value: exactMatch http://identifiers.org/mesh/C564802
property_value: exactMatch http://identifiers.org/omim/271270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849088
property_value: exactMatch Orphanet:1185

[Term]
id: MONDO:0010063
name: corneal-cerebellar syndrome
def: "Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement." [Orphanet:3177]
subset: ordo_malformation_syndrome {source="Orphanet:3177"}
synonym: "corneal cerebellar syndrome" RELATED [GARD:0001525]
synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [OMIM:271310]
synonym: "corneal-cerebellar syndrome" EXACT [OMIM:271310]
synonym: "Der Kaloustian Jarudi Khoury syndrome" RELATED [GARD:0001525]
synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [Orphanet:3177]
synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:271310]
synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525]
synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177]
xref: GARD:0001525 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:3177", source="ORDO:3177/attributed", source="ORDO:3177/ntbt"}
xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3177/e"}
xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="ORDO:3177/e"}
xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"}
xref: SCTID:720750004 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1849087 {source="Orphanet:3177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271310", source="ORDO:3177/e"}
is_a: MONDO:0000557 {source="Orphanet:3177"} ! hereditary ataxia
is_a: MONDO:0004884 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye degenerative disease
is_a: MONDO:0020215 {source="Orphanet:3177"} ! syndromic corneal dystrophy
is_a: MONDO:0022687 ! cerebellar degeneration
property_value: exactMatch http://identifiers.org/mesh/C535472
property_value: exactMatch http://identifiers.org/omim/271310
property_value: exactMatch http://identifiers.org/snomedct/720750004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849087
property_value: exactMatch Orphanet:3177

[Term]
id: MONDO:0010064
name: spastic ataxia-corneal dystrophy syndrome
def: "Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." [Orphanet:2572]
subset: ordo_disease {source="Orphanet:2572"}
synonym: "Bedouin spastic ataxia syndrome" EXACT [OMIM:271320, Orphanet:2572]
synonym: "Mousa Al din Al Nassar syndrome" RELATED [GARD:0003795]
synonym: "Mousa-Al Din-Al Nassar syndrome" EXACT [Orphanet:2572]
synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs" RELATED [GARD:0003795]
synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572]
synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320]
xref: GARD:0003795 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:2572", source="ORDO:2572/attributed", source="ORDO:2572/ntbt"}
xref: MESH:C536989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="ORDO:2572/e"}
xref: Orphanet:2572 {source="MONDO:equivalentTo", source="OMIM:271320"}
xref: SCTID:715465001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1849085 {source="Orphanet:2572", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271320", source="ORDO:2572/e"}
is_a: MONDO:0017847 {source="Orphanet:2572"} ! autosomal recessive spastic ataxia
is_a: MONDO:0020215 {source="Orphanet:2572"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C536989
property_value: exactMatch http://identifiers.org/omim/271320
property_value: exactMatch http://identifiers.org/snomedct/715465001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849085
property_value: exactMatch Orphanet:2572

[Term]
id: MONDO:0010065
name: spinocerebellar degeneration with slow eye movements
comment: Editor note: check this
synonym: "SDSEM" RELATED [MONDO:Lexical, OMIM:271322]
synonym: "spinocerebellar degeneration with slow eye movements" EXACT [MONDO:Lexical, OMIM:271322]
synonym: "spinocerebellar degeneration with slow eye movements; SDSEM" RELATED [OMIM:271322]
xref: OMIM:271322 {source="MONDO:equivalentTo"}
is_a: MONDO:0008458 ! spinocerebellar ataxia type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931904
property_value: exactMatch http://identifiers.org/omim/271322

[Term]
id: MONDO:0010066
name: familial isolated congenital asplenia
def: "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." [Orphanet:101351]
subset: ordo_morphological_anomaly {source="Orphanet:101351"}
synonym: "asplenia, familial" RELATED [OMIM:271400]
synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400]
synonym: "asplenia, isolated congenital; ICAS" RELATED [OMIM:271400]
synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400]
synonym: "ICAS" RELATED [MONDO:Lexical, OMIM:271400]
synonym: "splenic hypoplasia" RELATED [OMIM:271400]
xref: ICD10:Q89.0 {source="ORDO:101351/attributed", source="ORDO:101351/ntbt", source="Orphanet:101351"}
xref: MESH:C563028 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271400 {source="MONDO:equivalentTo", source="Orphanet:101351", source="ORDO:101351/e"}
xref: Orphanet:101351 {source="MONDO:equivalentTo", source="OMIM:271400"}
xref: SCTID:726708009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015213 {source="Orphanet:101351"} ! non-syndromic visceral malformation
is_a: MONDO:0018033 {source="Orphanet:101351"} ! other immunodeficiency syndromes due to defects in innate immunity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0685889
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849084
property_value: exactMatch http://identifiers.org/mesh/C563028
property_value: exactMatch http://identifiers.org/omim/271400
property_value: exactMatch http://identifiers.org/snomedct/726708009
property_value: exactMatch Orphanet:101351

[Term]
id: MONDO:0010067
name: splenoportal vascular anomalies
synonym: "splenoportal vascular anomalies" EXACT [OMIM:271500]
xref: MESH:C562761 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271500 {source="MONDO:equivalentTo"}
xref: SCTID:234131004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340826
property_value: exactMatch http://identifiers.org/mesh/C562761
property_value: exactMatch http://identifiers.org/omim/271500
property_value: exactMatch http://identifiers.org/snomedct/234131004

[Term]
id: MONDO:0010068
name: spondyloepimetaphyseal dysplasia, sponastrime type
def: "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." [NCIT:P378]
subset: gard_rare {source="GARD:0004970"}
subset: ordo_disease {source="Orphanet:93357"}
synonym: "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" RELATED [GARD:0004970]
synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [OMIM:271510]
synonym: "Sponastrime dysplasia" RELATED [OMIM:271510]
synonym: "sponastrime dysplasia" EXACT [DOID:5684]
synonym: "spondylar and nasal alterations with striated metaphyses" RELATED [OMIM:271510]
synonym: "spondylar and nasal alterations-striated metaphyses syndrome" EXACT [DOID:5684, NCIT:C3034]
synonym: "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357]
synonym: "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357]
synonym: "spondyloepimetaphyseal dysplasia Sponastrime type" RELATED [GARD:0004970]
synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93357]
synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510]
xref: DOID:5684 {source="MONDO:equivalentTo"}
xref: GARD:0004970 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93357/attributed", source="ORDO:93357/ntbt", source="Orphanet:93357"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535786 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129031 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:271510 {source="DOID:5684", source="ORDO:93357/e", source="MONDO:equivalentTo", source="Orphanet:93357"}
xref: Orphanet:93357 {source="MONDO:equivalentTo", source="OMIM:271510"}
xref: SCTID:389161008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016761 {source="DC-OMIM:271510", source="DOID:5684", source="Orphanet:93357", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0920349
property_value: closeMatch NCIT:C92206
property_value: exactMatch DOID:5684
property_value: exactMatch http://identifiers.org/mesh/C535786
property_value: exactMatch http://identifiers.org/omim/271510
property_value: exactMatch http://identifiers.org/snomedct/389161008
property_value: exactMatch NCIT:C129031
property_value: exactMatch Orphanet:93357
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type xsd:anyURI {source="GARD:0004970"}

[Term]
id: MONDO:0010069
name: spondylocostal dysostosis-anal and genitourinary malformations syndrome
def: "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." [Orphanet:94095]
subset: ordo_malformation_syndrome {source="Orphanet:94095"}
synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520, Orphanet:94095]
synonym: "CMn syndrome" RELATED [OMIM:271520]
synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [OMIM:271520]
synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [Orphanet:94095]
xref: ICD10:Q87.8 {source="ORDO:94095/attributed", source="ORDO:94095/ntbt", source="Orphanet:94095"}
xref: MESH:C564799 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271520 {source="MONDO:equivalentTo", source="ORDO:94095/e", source="Orphanet:94095"}
xref: Orphanet:94095 {source="MONDO:equivalentTo", source="OMIM:271520"}
xref: UMLS:C1849069 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:94095", source="OMIM:271520"}
is_a: MONDO:0000508 {source="Orphanet:94095"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015246 {source="Orphanet:94095"} ! syndromic anorectal malformation
is_a: MONDO:0015620 {source="Orphanet:94095"} ! syndromic urogenital tract malformation
is_a: MONDO:0015846 {source="Orphanet:94095"} ! syndromic uterovaginal malformation
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019711 {source="Orphanet:94095"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/mesh/C564799
property_value: exactMatch http://identifiers.org/omim/271520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849069
property_value: exactMatch Orphanet:94095

[Term]
id: MONDO:0010070
name: BCYM1A
synonym: "BCYM1A" EXACT [MONDO:Lexical, OMIM:271530]
synonym: "brachyolmia type 1, Hobaek type" RELATED [MONDO:Lexical, OMIM:271530]
synonym: "brachyolmia type 1, Hobaek type; BCYM1A" RELATED [OMIM:271530]
synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530]
synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530]
xref: MESH:C537099 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271530 {source="MONDO:equivalentTo"}
xref: Orphanet:93301 {source="MONDO:obsoleteEquivalent", source="OMIM:271530"}
xref: UMLS:C1849055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271530"}
is_a: MONDO:0018662 {source="ORDO:448242/btnt"} ! autosomal recessive brachyolmia
property_value: exactMatch http://identifiers.org/mesh/C537099
property_value: exactMatch http://identifiers.org/omim/271530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849055
property_value: exactMatch Orphanet:93301

[Term]
id: MONDO:0010071
name: spondyloenchondrodysplasia
def: "Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis." [Orphanet:1855]
subset: gard_rare {source="GARD:0004978"}
subset: ordo_malformation_syndrome {source="Orphanet:1855"}
synonym: "moved to 607944" RELATED [OMIM:271550]
synonym: "SEM" RELATED [GARD:0004978]
synonym: "SPENCD" EXACT [Orphanet:1855]
synonym: "SPENCD" RELATED [MONDO:Lexical, OMIM:271550]
synonym: "spondyloenchondrodysplasia" EXACT [MONDO:Lexical, OMIM:271550]
synonym: "spondyloenchondrodysplasia; SPENCD" RELATED [OMIM:271550]
synonym: "spondyloenchondromatosis" EXACT [OMIM:271550, Orphanet:1855]
synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855]
xref: EFO:0002326 {source="MONDO:equivalentTo"}
xref: GARD:0004978 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:1855/attributed", source="ORDO:1855/ntbt", source="Orphanet:1855"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535782 {source="MONDO:equivalentTo", source="Orphanet:1855", source="ORDO:1855/e", source="MONDO:ontobio"}
xref: OMIM:271550 {source="MONDO:equivalentTo", source="Orphanet:1855", source="ORDO:1855/e"}
xref: Orphanet:1855 {source="MONDO:equivalentTo", source="OMIM:271550"}
xref: SCTID:254079002 {source="MONDO:kboom-pr-0.88/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0432222 {source="MONDO:equivalentTo", source="Orphanet:1855", source="ORDO:1855/e", source="OMIM:271550"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015709 {source="Orphanet:1855"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0016763 {source="MONDOLEX:0010071", source="Orphanet:1855"} ! spondylometaphyseal dysplasia
is_a: MONDO:0018782 {source="Orphanet:1855"} ! type 1 interferonopathy
property_value: exactMatch http://identifiers.org/mesh/C535782
property_value: exactMatch http://identifiers.org/omim/271550
property_value: exactMatch http://identifiers.org/snomedct/254079002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432222
property_value: exactMatch Orphanet:1855
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia xsd:anyURI {source="GARD:0004978"}

[Term]
id: MONDO:0010072
name: spondyloepiphyseal dysplasia tarda, autosomal recessive
def: "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [MONDO:design_pattern]
synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:271600]
xref: MESH:C564797 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271600 {source="MONDO:equivalentTo"}
xref: UMLS:C1849054 {source="OMIM:271600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0007738 {source="DC-OMIM:271600"} ! spondyloepiphyseal dysplasia with congenital joint dislocations
is_a: MONDO:0019667 {source="MONDO:Redundant", source="ORDO:93284/btnt"} ! spondyloepiphyseal dysplasia tarda
property_value: exactMatch http://identifiers.org/mesh/C564797
property_value: exactMatch http://identifiers.org/omim/271600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849054

[Term]
id: MONDO:0010073
name: spondyloepiphyseal dysplasia tarda, Kohn type
def: "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." [Orphanet:163665]
subset: ordo_disease {source="Orphanet:163665"}
synonym: "Sedt with mental retardation" RELATED [OMIM:271620]
synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED [OMIM:271620]
xref: ICD10:Q77.7 {source="ORDO:163665/attributed", source="ORDO:163665/ntbt", source="Orphanet:163665"}
xref: MESH:C564796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="ORDO:163665/e"}
xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"}
xref: SCTID:719202006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C1849053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163665", source="OMIM:271620"}
is_a: MONDO:0000508 {source="Orphanet:163665"} ! syndromic intellectual disability
is_a: MONDO:0019667 {source="Orphanet:163665"} ! spondyloepiphyseal dysplasia tarda
property_value: exactMatch http://identifiers.org/mesh/C564796
property_value: exactMatch http://identifiers.org/omim/271620
property_value: exactMatch http://identifiers.org/snomedct/719202006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849053
property_value: exactMatch Orphanet:163665

[Term]
id: MONDO:0010074
name: BCYM1B
synonym: "BCYM1B" EXACT [MONDO:Lexical, OMIM:271630]
synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630]
synonym: "brachyolmia type 1, Toledo type; BCYM1B" RELATED [OMIM:271630]
synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630]
synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630]
synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630]
xref: MESH:C535787 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271630 {source="MONDO:equivalentTo"}
xref: Orphanet:93303 {source="MONDO:obsoleteEquivalent", source="OMIM:271630"}
xref: UMLS:C1849048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271630"}
is_a: MONDO:0018662 {source="ORDO:448242/btnt"} ! autosomal recessive brachyolmia
property_value: exactMatch http://identifiers.org/mesh/C535787
property_value: exactMatch http://identifiers.org/omim/271630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849048
property_value: exactMatch Orphanet:93303

[Term]
id: MONDO:0010075
name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
def: "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEMDJL" RELATED [OMIM:271640]
synonym: "SEMDJL1" RELATED [MONDO:Lexical, OMIM:271640]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" EXACT [MONDO:design_pattern]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [MONDO:Lexical, OMIM:271640]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures; SEMDJL1" RELATED [OMIM:271640]
xref: OMIM:271640 {source="MONDO:equivalentTo"}
is_a: MONDO:0019675 {source="DC-OMIM:271640", source="MONDO:Redundant"} ! spondyloepimetaphyseal dysplasia with joint laxity
property_value: exactMatch http://identifiers.org/omim/271640

[Term]
id: MONDO:0010076
name: spondyloepimetaphyseal dysplasia, Irapa type
def: "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." [Orphanet:93351]
subset: ordo_disease {source="Orphanet:93351"}
synonym: "SEMD, Irapa type" EXACT [Orphanet:93351]
synonym: "SEMDIT" RELATED [MONDO:Lexical, OMIM:271650]
synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650]
synonym: "spondyloepimetaphyseal dysplasia, Irapa type; SEMDIT" RELATED [OMIM:271650]
xref: ICD10:Q77.7 {source="Orphanet:93351", source="ORDO:93351/attributed", source="ORDO:93351/ntbt"}
xref: MESH:C562958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="ORDO:93351/e"}
xref: Orphanet:93351 {source="MONDO:equivalentTo", source="OMIM:271650"}
xref: SCTID:717330004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C0432213 {source="Orphanet:93351", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271650"}
is_a: MONDO:0016761 {source="DC-OMIM:271650", source="Orphanet:93351", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C562958
property_value: exactMatch http://identifiers.org/omim/271650
property_value: exactMatch http://identifiers.org/snomedct/717330004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432213
property_value: exactMatch Orphanet:93351

[Term]
id: MONDO:0010077
name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
def: "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." [Orphanet:93358]
subset: ordo_disease {source="Orphanet:93358"}
synonym: "Smed short limb-abnormal calcification type" RELATED [GARD:0010616]
synonym: "SMED short limb-hand type" RELATED [GARD:0010616]
synonym: "SMED type 2" RELATED [GARD:0010616]
synonym: "Smed, short limb-abnormal calcification type" RELATED [OMIM:271665]
synonym: "Smed, short limb-hand type" RELATED [OMIM:271665]
synonym: "Smed, type 2" RELATED [OMIM:271665]
synonym: "Smed-SL" RELATED [OMIM:271665]
synonym: "Smed-SL/Ac" RELATED [OMIM:271665]
synonym: "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia short limb-abnormal calcification type" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665]
synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665]
xref: GARD:0010616 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:93358/attributed", source="ORDO:93358/ntbt", source="Orphanet:93358"}
xref: MESH:C564794 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271665 {source="ORDO:93358/e", source="MONDO:equivalentTo", source="Orphanet:93358"}
xref: Orphanet:93358 {source="OMIM:271665", source="MONDO:equivalentTo"}
xref: UMLS:C1849011 {source="OMIM:271665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93358"}
is_a: MONDO:0016761 {source="Orphanet:93358"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C564794
property_value: exactMatch http://identifiers.org/omim/271665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849011
property_value: exactMatch Orphanet:93358

[Term]
id: MONDO:0010078
name: spondyloperipheral dysplasia-short ulna syndrome
def: "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." [NCIT:C135088]
subset: ordo_disease {source="Orphanet:1856"}
synonym: "spondyloperipheral dysplasia" RELATED [OMIM:271700]
synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700]
xref: GARD:0004994 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:1856/attributed", source="ORDO:1856/ntbt", source="Orphanet:1856"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535799 {source="MONDO:equivalentTo", source="ORDO:1856/e", source="MONDO:ontobio", source="Orphanet:1856"}
xref: NCIT:C135088 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/8.38"}
xref: OMIM:271700 {source="MONDO:equivalentTo", source="ORDO:1856/e", source="Orphanet:1856"}
xref: Orphanet:1856 {source="OMIM:271700", source="MONDO:equivalentTo"}
xref: SCTID:702339001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/7.39"}
xref: UMLS:C0796173 {source="OMIM:271700", source="NCIT:C135088", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1856/e", source="Orphanet:1856"}
is_a: MONDO:0016761 {source="Orphanet:1856"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:1856"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch http://identifiers.org/mesh/C535799
property_value: exactMatch http://identifiers.org/omim/271700
property_value: exactMatch http://identifiers.org/snomedct/702339001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796173
property_value: exactMatch NCIT:C135088
property_value: exactMatch Orphanet:1856

[Term]
id: MONDO:0010079
name: Canavan disease
def: "Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." [Orphanet:141]
subset: gard_rare {source="GARD:0005984"}
subset: ordo_disease {source="Orphanet:141"}
synonym: "ACY2 deficiency" EXACT [Orphanet:141]
synonym: "Acy2 deficiency" RELATED [OMIM:271900]
synonym: "aminoacylase 2 deficiency" EXACT [Orphanet:141]
synonym: "Asp deficiency" RELATED [OMIM:271900]
synonym: "Aspa deficiency" RELATED [OMIM:271900]
synonym: "aspartoacylase deficiency" EXACT [OMIM:271900, Orphanet:141]
synonym: "Canavan disease" EXACT [OMIM:271900]
synonym: "Canavan-VAN Bogaert-Bertrand disease" EXACT [DOID:3613]
synonym: "Canavan-Van Bogaert-Bertrand disease" RELATED [OMIM:271900]
synonym: "spongy Degeneration of central nervous system" RELATED [OMIM:271900]
synonym: "spongy degeneration of central nervous system" EXACT [DOID:3613]
synonym: "spongy degeneration of the brain" EXACT [Orphanet:141]
synonym: "spongy degeneration of the central nervous system" RELATED [GARD:0005984]
synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984]
xref: DOID:3613 {source="MONDO:equivalentTo"}
xref: GARD:0005984 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:141/index", source="ORDO:141/ntbt", source="Orphanet:141"}
xref: MedDRA:10067608 {source="ORDO:141/e", source="Orphanet:141"}
xref: MESH:D017825 {source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"}
xref: NCIT:C84611 {source="MONDO:equivalentTo", source="DOID:3613", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:271900 {source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"}
xref: Orphanet:141 {source="OMIM:271900", source="MONDO:equivalentTo"}
xref: SCTID:80544005 {source="MONDO:equivalentTo", source="DOID:3613", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206307 {source="NCIT:C84611", source="NCBI:mim2gene_medline", source="OMIM:271900", source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"}
is_a: MONDO:0016399 {source="Orphanet:141"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0017686 {source="Orphanet:141"} ! inborn aminoacylase deficiency
is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet:141"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:141"} ! neurometabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3542499
property_value: exactMatch DOID:3613
property_value: exactMatch http://identifiers.org/meddra/10067608
property_value: exactMatch http://identifiers.org/mesh/D017825
property_value: exactMatch http://identifiers.org/omim/271900
property_value: exactMatch http://identifiers.org/snomedct/80544005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206307
property_value: exactMatch NCIT:C84611
property_value: exactMatch Orphanet:141
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5984/canavan-disease xsd:anyURI {source="GARD:0005984"}

[Term]
id: MONDO:0010080
name: familial infantile bilateral striatal necrosis
def: "Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225154]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:225154"}
synonym: "bilateral striatal Necrosis, infantile" RELATED [OMIM:271930]
synonym: "familial bilateral striatal necrosis" RELATED [GARD:0010665]
synonym: "familial IBSN" EXACT [Orphanet:225154]
synonym: "familial infantile striatonigral degeneration" EXACT [Orphanet:225154]
synonym: "familial infantile striatonigral necrosis" EXACT [Orphanet:225154]
synonym: "FBSN" RELATED [GARD:0010665]
synonym: "hereditary infantile bilateral striatal necrosis" EXACT [MONDO:patterns/hereditary]
synonym: "infantile bilateral striatal necrosis" RELATED [OMIM:271930]
synonym: "SNDI" RELATED [MONDO:Lexical, OMIM:271930]
synonym: "striatal degeneration, familial" RELATED [OMIM:271930]
synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930]
synonym: "striatonigral degeneration, infantile; SNDI" RELATED [OMIM:271930]
xref: GARD:0010665 {source="MONDO:equivalentTo"}
xref: ICD10:G23.2 {source="MONDO:subClassOf", source="Orphanet:225154", source="ORDO:225154/attributed", source="ORDO:225154/ntbt"}
xref: OMIM:271930 {source="MONDO:equivalentTo", source="Orphanet:225154", source="ORDO:225154/e"}
xref: Orphanet:225154 {source="OMIM:271930", source="MONDO:equivalentTo"}
xref: UMLS:CN201303 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease
is_a: MONDO:0003122 {source="OMIM:271930"} ! striatonigral degeneration
is_a: MONDO:0015518 {source="MONDO:Redundant", source="Orphanet:225154"} ! infantile bilateral striatal necrosis
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
intersection_of: MONDO:0015518 ! infantile bilateral striatal necrosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/omim/271930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201303
property_value: exactMatch Orphanet:225154
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis xsd:anyURI {source="GARD:0010665"}

[Term]
id: MONDO:0010081
name: subaortic stenosis, membranous
synonym: "subaortic stenosis, membranous" EXACT [OMIM:271950]
xref: MESH:C564793 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271950 {source="MONDO:equivalentTo"}
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0020392 {source="ORDO:99051/btnt"} ! discrete fixed membranous subaortic stenosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848979
property_value: exactMatch http://identifiers.org/mesh/C564793
property_value: exactMatch http://identifiers.org/omim/271950

[Term]
id: MONDO:0010082
name: subaortic stenosis-short stature syndrome
subset: gard_rare {source="GARD:0000405"}
subset: ordo_malformation_syndrome {source="Orphanet:3191"}
synonym: "Onat syndrome" EXACT [OMIM:271960, Orphanet:3191]
synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405]
synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960]
xref: GARD:0000405 {source="MONDO:equivalentTo"}
xref: MESH:C537749 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271960 {source="MONDO:equivalentTo", source="ORDO:3191/e", source="Orphanet:3191"}
xref: Orphanet:3191 {source="MONDO:equivalentTo", source="OMIM:271960"}
xref: UMLS:C0795947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3191", source="MEDGEN:kboom-pr92-c96", source="OMIM:271960"}
is_a: MONDO:0020215 {source="Orphanet:3191"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537749
property_value: exactMatch http://identifiers.org/omim/271960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795947
property_value: exactMatch Orphanet:3191
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome xsd:anyURI {source="GARD:0000405"}

[Term]
id: MONDO:0010083
name: succinic semialdehyde dehydrogenase deficiency
def: "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." [Orphanet:22]
subset: gard_rare {source="GARD:0007695"}
subset: ordo_disease {source="Orphanet:22"}
synonym: "4-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22]
synonym: "GABA metabolic defect" RELATED [OMIM:271980]
synonym: "gamma-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22]
synonym: "gamma-hydroxybutyricaciduria" RELATED [GARD:0007695]
synonym: "SSADH" EXACT [DOID:0060175]
synonym: "SSADH deficiency" EXACT [Orphanet:22]
synonym: "Ssadh deficiency" RELATED [OMIM:271980]
synonym: "SSADHD" RELATED [MONDO:Lexical, OMIM:271980]
synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:271980]
synonym: "succinic semialdehyde dehydrogenase deficiency; SSADHD" RELATED [OMIM:271980]
xref: DOID:0060175 {source="MONDO:equivalentTo"}
xref: GARD:0007695 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="Orphanet:22", source="ORDO:22/attributed", source="ORDO:22/ntbt"}
xref: MESH:C535803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:271980 {source="ORDO:22/e", source="Orphanet:22", source="MONDO:equivalentTo"}
xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"}
xref: SCTID:49748000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.51"}
xref: UMLS:C0268631 {source="Orphanet:22", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271980"}
is_a: MONDO:0000698 {source="DOID:0060175"} ! gamma-amino butyric acid metabolism disorder
is_a: MONDO:0016404 {source="Orphanet:22"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0019058 {source="Orphanet:22"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0060175
property_value: exactMatch http://identifiers.org/mesh/C535803
property_value: exactMatch http://identifiers.org/omim/271980
property_value: exactMatch http://identifiers.org/snomedct/49748000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268631
property_value: exactMatch Orphanet:22
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency xsd:anyURI {source="GARD:0007695"}

[Term]
id: MONDO:0010084
name: sucrosuria, hiatus hernia and mental retardation
synonym: "sucrosuria, hiatus hernia and mental retardation" EXACT [OMIM:272000]
xref: MESH:C564792 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272000 {source="MONDO:equivalentTo"}
xref: UMLS:C1848963 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272000"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564792
property_value: exactMatch http://identifiers.org/omim/272000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848963

[Term]
id: MONDO:0010085
name: Schilder disease
def: "Schilder's disease is a progressive demyelinating disorder of the central nervous system." [Orphanet:59298]
subset: ordo_disease {source="Orphanet:59298"}
synonym: "Myelinoclastic diffuse sclerosis" EXACT [Orphanet:59298]
synonym: "Schilder disease" EXACT [OMIM:272100]
synonym: "Schilder's disease" EXACT [Orphanet:59298]
synonym: "SUDANOPHILIC cerebral sclerosis" RELATED [OMIM:272100]
xref: ICD10:G37.0 {source="ORDO:59298/e", source="Orphanet:59298"}
xref: ICD9:341.1 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:272100 {source="MONDO:equivalentTo", source="ORDO:59298/e", source="Orphanet:59298"}
xref: Orphanet:59298 {source="MONDO:equivalentTo", source="OMIM:272100"}
xref: SCTID:49692006 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0007795 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:59298", source="OMIM:272100"}
is_a: MONDO:0016428 {source="Orphanet:59298"} ! multiple sclerosis variant
property_value: exactMatch http://identifiers.org/omim/272100
property_value: exactMatch http://identifiers.org/snomedct/49692006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007795
property_value: exactMatch Orphanet:59298

[Term]
id: MONDO:0010086
name: sudden infant death syndrome
def: "Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." [https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome]
subset: gard_rare {source="GARD:0007711"}
synonym: "cot death" EXACT [DOID:9007]
synonym: "cot death (context-dependent category)" EXACT [DOID:9007]
synonym: "crib death" EXACT [NCIT:C85173]
synonym: "Crib death (context-dependent category)" EXACT [DOID:9007]
synonym: "SIDS" EXACT [CSP2005:0635-4620, DOID:9007]
synonym: "Sids" RELATED [OMIM:272120]
synonym: "sudden death of nonspecific cause in infancy" EXACT [DOID:9007, MTHICD9_2006:798.0]
synonym: "sudden infant death syndrome" EXACT [OMIM:272120]
synonym: "sudden infant death syndrome (context-dependent category)" EXACT [DOID:9007]
synonym: "sudden infant death syndrome (finding)" EXACT [DOID:9007]
synonym: "sudden infant death syndrome NOS (context-dependent category)" EXACT [DOID:9007]
xref: COHD:435937 {source="MONDO:equivalentTo"}
xref: DOID:9007 {source="EFO:0005303", source="MONDO:equivalentTo"}
xref: EFO:0005303 {source="MONDO:equivalentTo"}
xref: GARD:0007711 {source="MONDO:equivalentTo"}
xref: ICD10:R95 {source="MONDO:equivalentTo"}
xref: ICD9:798.0 {source="DOID:9007", source="EFO:0005303"}
xref: MedDRA:10042439 {source="EFO:0005303"}
xref: MESH:D013398 {source="DOID:9007", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85173 {source="DOID:9007", source="EFO:0005303", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:272120 {source="DOID:9007", source="EFO:0005303", source="MONDO:equivalentTo"}
xref: SCTID:51178009 {source="DOID:9007", source="EFO:0005303", source="MONDO:equivalentTo"}
xref: UMLS:C0038644 {source="DOID:9007", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85173", source="OMIM:272120"}
is_a: MONDO:0002254 {source="DOID:9007", source="MONDOLEX:0010086", source="NCIT:C85173"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/meddra/10042439
property_value: closeMatch http://identifiers.org/snomedct/158718001
property_value: closeMatch http://identifiers.org/snomedct/207534005
property_value: closeMatch http://identifiers.org/snomedct/207535006
property_value: closeMatch http://identifiers.org/snomedct/207536007
property_value: closeMatch http://identifiers.org/snomedct/207538008
property_value: closeMatch http://identifiers.org/snomedct/207671002
property_value: exactMatch DOID:9007
property_value: exactMatch http://identifiers.org/mesh/D013398
property_value: exactMatch http://identifiers.org/omim/272120
property_value: exactMatch http://identifiers.org/snomedct/51178009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038644
property_value: exactMatch NCIT:C85173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome xsd:anyURI {source="GARD:0007711"}

[Term]
id: MONDO:0010087
name: Sugarman brachydactyly
def: "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." [Orphanet:498602]
subset: gard_rare {source="GARD:0005058"}
subset: ordo_morphological_anomaly
synonym: "brachydactyly of the hands and feet with duplication of the first toes" RELATED [GARD:0005058]
synonym: "brachydactyly with Major proximal phalangeal shortening" RELATED [OMIM:272150]
synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [DOID:0110979]
synonym: "Sugarman brachydactyly" EXACT [OMIM:272150]
synonym: "Sugarman-Hager-Kulik syndrome" EXACT [Orphanet:498602]
xref: DOID:0110979 {source="MONDO:equivalentTo"}
xref: GARD:0005058 {source="MONDO:equivalentTo"}
xref: OMIM:272150 {source="MONDO:equivalentTo", source="Orphanet:498602", source="DOID:0110979"}
xref: Orphanet:498602 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="MONDO:cjm", source="Orphanet:498602/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848962
property_value: exactMatch DOID:0110979
property_value: exactMatch http://identifiers.org/omim/272150
property_value: exactMatch Orphanet:498602
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly xsd:anyURI {source="GARD:0005058"}

[Term]
id: MONDO:0010088
name: mucosulfatidosis
def: "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." [Orphanet:585]
subset: ordo_disease {source="Orphanet:585"}
synonym: "juvenile sulfatidosis" RELATED [GARD:0005061]
synonym: "juvenile sulfatidosis, Austin type" EXACT [Orphanet:585]
synonym: "MSD" EXACT [MONDO:Lexical, OMIM:272200, Orphanet:585]
synonym: "mucosulfatidosis" EXACT [OMIM:272200, Orphanet:585]
synonym: "multiple sulfatase deficiency" RELATED [MONDO:Lexical, OMIM:272200]
synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441]
synonym: "multiple sulfatase deficiency; MSD" RELATED [OMIM:272200]
synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061]
synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200]
xref: DOID:0050441 {source="MONDO:equivalentTo"}
xref: GARD:0005061 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:585/attributed", source="ORDO:585/ntbt", source="Orphanet:585"}
xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:272200 {source="DOID:0050441", source="MONDO:equivalentTo", source="ORDO:585/e", source="Orphanet:585"}
xref: Orphanet:585 {source="MONDO:equivalentTo", source="OMIM:272200"}
xref: SCTID:54898003 {source="DOID:0050441", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.61"}
xref: UMLS:C0268263 {source="DOID:0050441", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84908", source="ORDO:585/e", source="OMIM:272200", source="Orphanet:585"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017273 {source="Orphanet:585"} ! autosomal ichthyosis syndrome with fatal disease course
is_a: MONDO:0018299 {source="Orphanet:585"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019058 {source="Orphanet:585"} ! neurometabolic disease
is_a: MONDO:0019706 {source="Orphanet:585"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://identifiers.org/snomedct/254076009
property_value: exactMatch DOID:0050441
property_value: exactMatch http://identifiers.org/mesh/D052517
property_value: exactMatch http://identifiers.org/omim/272200
property_value: exactMatch http://identifiers.org/snomedct/54898003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720864
property_value: exactMatch NCIT:C84908
property_value: exactMatch Orphanet:585

[Term]
id: MONDO:0010089
name: isolated sulfite oxidase deficiency
subset: ordo_clinical_subtype {source="Orphanet:99731"}
synonym: "ISOD" EXACT [Orphanet:99731]
synonym: "sulfite oxidase deficiency" EXACT [OMIM:272300]
synonym: "sulfite oxidase deficiency, isolated" EXACT [OMIM:272300]
synonym: "sulfite oxidase deficiency, isolated; ISOD" EXACT [OMIM:272300]
synonym: "Sulfocysteinuria" EXACT [Orphanet:99731]
synonym: "sulfocysteinuria" EXACT [OMIM:272300]
xref: GARD:0005062 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E72.1 {source="Orphanet:99731", source="ORDO:99731/attributed", source="ORDO:99731/ntbt"}
xref: MESH:C538141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="ORDO:99731/e"}
xref: Orphanet:99731 {source="MONDO:equivalentTo", source="OMIM:272300"}
xref: SCTID:367368009 {source="MONDO:kboom-pr-0.75/0.46/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0019358 {source="Orphanet:99731"} ! encephalopathy due to sulfite oxidase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268624
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931746
property_value: exactMatch http://identifiers.org/mesh/C538141
property_value: exactMatch http://identifiers.org/omim/272300
property_value: exactMatch http://identifiers.org/snomedct/367368009
property_value: exactMatch Orphanet:99731

[Term]
id: MONDO:0010090
name: Summitt syndrome
def: "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." [Orphanet:3210]
subset: gard_rare {source="GARD:0000127"}
subset: ordo_malformation_syndrome {source="Orphanet:3210"}
synonym: "recessive acrocephalosyndactyly with normal intelligence" RELATED [GARD:0000127]
synonym: "Summitt syndrome" EXACT [OMIM:272350]
synonym: "Summitt's acrocephalosyndactyly" RELATED [GARD:0000127]
xref: GARD:0000127 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="ORDO:3210/attributed", source="ORDO:3210/ntbt"}
xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3210/e"}
xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="ORDO:3210/e"}
xref: Orphanet:3210 {source="MONDO:equivalentTo", source="OMIM:272350"}
xref: SCTID:733606001 {source="MONDO:equivalentTo"}
xref: UMLS:C1802405 {source="Orphanet:3210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272350", source="ORDO:3210/e"}
is_a: MONDO:0015338 {source="Orphanet:3210", source="Orphanet:3210/inferred"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C538142
property_value: exactMatch http://identifiers.org/omim/272350
property_value: exactMatch http://identifiers.org/snomedct/733606001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1802405
property_value: exactMatch Orphanet:3210
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome xsd:anyURI {source="GARD:0000127"}

[Term]
id: MONDO:0010091
name: Crisponi syndrome
def: "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." [Orphanet:1545]
subset: ordo_malformation_syndrome {source="Orphanet:1545"}
synonym: "CISS1" RELATED [MONDO:Lexical, OMIM:272430]
synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical, OMIM:272430]
synonym: "cold-induced sweating syndrome 1; CISS1" RELATED [OMIM:272430]
synonym: "cold-induced sweating syndrome type 1" EXACT [MONDORULE:1, OMIM:272430]
synonym: "Crisponi syndrome" EXACT [OMIM:272430]
synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [OMIM:272430]
synonym: "CRISPONI/cold-induced sweating syndrome 1; CISS1" RELATED [OMIM:272430]
synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [OMIM:272430]
synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430]
xref: GARD:0001611 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G90.8 {source="ORDO:1545/attributed", source="ORDO:1545/ntbt", source="Orphanet:1545"}
xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="ORDO:1545/e"}
xref: OMIM:272430 {source="MONDO:equivalentTo"}
xref: Orphanet:1545 {source="MONDO:equivalentTo"}
xref: SCTID:725097006 {source="MONDO:equivalentTo"}
is_a: MONDO:0015526 {source="DC-OMIM:272430", source="OMIM:272430"} ! cold-induced sweating syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848947
property_value: exactMatch http://identifiers.org/mesh/C536214
property_value: exactMatch http://identifiers.org/omim/272430
property_value: exactMatch http://identifiers.org/omim/601378
property_value: exactMatch http://identifiers.org/snomedct/725097006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832409
property_value: exactMatch Orphanet:1545

[Term]
id: MONDO:0010092
name: Filippi syndrome
def: "Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." [Orphanet:3255]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3255"}
synonym: "Filippi syndrome" EXACT [MONDO:Lexical, OMIM:272440]
synonym: "FILIPPI syndrome; FLPIS" RELATED [OMIM:272440]
synonym: "FLPIS" RELATED [MONDO:Lexical, OMIM:272440]
synonym: "Scott craniodigital syndrome with mental retardation" RELATED [OMIM:272440]
synonym: "syndactyly type I with microcephaly and mental retardation" RELATED [GARD:0000062]
synonym: "syndactyly, type I, with microcephaly and mental retardation" RELATED [OMIM:272440]
synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [Orphanet:3255]
synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED [GARD:0000062]
xref: GARD:0000062 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3255", source="ORDO:3255/attributed", source="ORDO:3255/ntbt"}
xref: MESH:C538152 {source="Orphanet:3255", source="ORDO:3255/e", source="MONDO:equivalentTo"}
xref: OMIM:272440 {source="Orphanet:3255", source="ORDO:3255/e", source="MONDO:equivalentTo", source="GARD:0000062"}
xref: Orphanet:3255 {source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"}
xref: SCTID:720954000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0795940 {source="Orphanet:3255", source="ORDO:3255/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3255", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3255"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017434 {source="Orphanet:3255"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C538152
property_value: exactMatch http://identifiers.org/omim/272440
property_value: exactMatch http://identifiers.org/snomedct/720954000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795940
property_value: exactMatch Orphanet:3255

[Term]
id: MONDO:0010093
name: syndesmodysplasic dwarfism
synonym: "syndesmodysplasic dwarfism" EXACT [OMIM:272450]
xref: MESH:C537869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272450 {source="MONDO:equivalentTo"}
xref: Orphanet:2654 {source="MONDO:equivalentTo", source="OMIM:272450"}
xref: UMLS:C2931647 {source="MONDO:equivalentTo", source="OMIM:272450"}
is_a: MONDO:0003847 {source="MESH:C537869/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848946
property_value: exactMatch http://identifiers.org/mesh/C537869
property_value: exactMatch http://identifiers.org/omim/272450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931647
property_value: exactMatch Orphanet:2654

[Term]
id: MONDO:0010094
name: spondylocarpotarsal synostosis syndrome
def: "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." [Orphanet:3275]
subset: gard_rare {source="GARD:0004974"}
subset: ordo_malformation_syndrome {source="Orphanet:3275"}
synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [DOID:0090116]
synonym: "congenital synspondylism" EXACT [DOID:0090116]
synonym: "scoliosis, congenital with unilateral unsegmented bar" RELATED [GARD:0004974]
synonym: "scoliosis, congenital, with unilateral unsegmented Bar" RELATED [OMIM:272460]
synonym: "SCT" EXACT [DOID:0090116]
synonym: "SCT" RELATED [MONDO:Lexical, OMIM:272460]
synonym: "spondylocarpotarsal syndrome" EXACT [DOID:0090116, OMIM:272460]
synonym: "spondylocarpotarsal synostosis" EXACT [DOID:0090116]
synonym: "spondylocarpotarsal synostosis syndrome" EXACT [MONDO:Lexical, OMIM:272460]
synonym: "spondylocarpotarsal synostosis syndrome; SCT" RELATED [OMIM:272460]
synonym: "Synspondylism" EXACT [Orphanet:3275]
synonym: "Synspondylism congenital" RELATED [GARD:0004974]
synonym: "Synspondylism, congenital" RELATED [OMIM:272460]
synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:272460]
xref: DOID:0090116 {source="MONDO:equivalentTo"}
xref: GARD:0004974 {source="MONDO:equivalentTo"}
xref: GARD:4974 {source="DOID:0090116"}
xref: ICD10:Q76.4 {source="DOID:0090116", source="ORDO:3275/attributed", source="ORDO:3275/ntbt", source="Orphanet:3275"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535780 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272460 {source="MONDO:equivalentTo", source="DOID:0090116", source="Orphanet:3275", source="ORDO:3275/e"}
xref: Orphanet:3275 {source="MONDO:equivalentTo", source="OMIM:272460", source="DOID:0090116"}
xref: SCTID:702351004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1848934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272460", source="Orphanet:3275"}
is_a: MONDO:0019690 {source="Orphanet:3275"} ! filamin-related bone disorder
is_a: MONDO:0019694 {source="Orphanet:3275"} ! spondylodysplastic dysplasia
property_value: exactMatch DOID:0090116
property_value: exactMatch http://identifiers.org/mesh/C535780
property_value: exactMatch http://identifiers.org/omim/272460
property_value: exactMatch http://identifiers.org/snomedct/702351004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848934
property_value: exactMatch Orphanet:3275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome xsd:anyURI {source="GARD:0004974"}

[Term]
id: MONDO:0010095
name: ataxia-tapetoretinal degeneration syndrome
subset: ordo_disease {source="Orphanet:1178"}
synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600]
xref: MESH:C564788 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272600 {source="Orphanet:1178", source="ORDO:1178/e", source="MONDO:equivalentTo"}
xref: Orphanet:1178 {source="OMIM:272600", source="MONDO:equivalentTo"}
xref: UMLS:C1848932 {source="OMIM:272600", source="Orphanet:1178", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:1178"} ! hereditary ataxia
property_value: exactMatch http://identifiers.org/mesh/C564788
property_value: exactMatch http://identifiers.org/omim/272600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848932
property_value: exactMatch Orphanet:1178

[Term]
id: MONDO:0010096
name: tardive dyskinesia (disease)
synonym: "tardive dyskinesia" EXACT [MONDO:ambiguous, OMIM:272620]
xref: HP:0040141 {source="MONDO:otherHierarchy", source="ontobio"}
xref: OMIM:272620 {source="MONDO:equivalentTo"}
xref: SCTID:102449007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0686347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272620"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/272620
property_value: exactMatch http://identifiers.org/snomedct/102449007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686347

[Term]
id: MONDO:0010097
name: Tatsumi factor deficiency
synonym: "Tatsumi factor deficiency" EXACT [OMIM:272650]
xref: MESH:C564787 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272650 {source="MONDO:equivalentTo"}
xref: UMLS:C1848931 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272650"}
is_a: MONDO:0002242 {source="MESH:C564787"} ! coagulation protein disease
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C564787
property_value: exactMatch http://identifiers.org/omim/272650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848931

[Term]
id: MONDO:0010098
name: taurodontism (disease)
def: "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." [Orphanet:3289]
subset: ordo_morphological_anomaly {source="Orphanet:3289"}
synonym: "Bull teeth" RELATED [GARD:0005119]
synonym: "large pulp chambers in the molars" RELATED [GARD:0005119]
synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700]
xref: GARD:0005119 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0000679 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K00.2 {source="Orphanet:3289", source="ORDO:3289/inclusion", source="ORDO:3289/ntbt"}
xref: MESH:C536946 {source="ORDO:3289/e", source="Orphanet:3289", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272700 {source="ORDO:3289/e", source="Orphanet:3289", source="MONDO:equivalentTo"}
xref: Orphanet:3289 {source="OMIM:272700", source="MONDO:equivalentTo"}
xref: SCTID:51744007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0266039 {source="OMIM:272700", source="ORDO:3289/e", source="MEDGEN:kboom-pr97-c99", source="Orphanet:3289", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:3289"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:3289"} ! rare genetic odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/mesh/C536946
property_value: exactMatch http://identifiers.org/omim/272700
property_value: exactMatch http://identifiers.org/snomedct/51744007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266039
property_value: exactMatch Orphanet:3289

[Term]
id: MONDO:0010099
name: Tay-Sachs disease AB variant
def: "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." [Orphanet:309246]
subset: ordo_disease {source="Orphanet:309246"}
synonym: "Ab variant GM2-gangliosidosis" RELATED [OMIM:272750]
synonym: "GM2 activator deficiency" RELATED [OMIM:272750]
synonym: "GM2 gangliosidosis, AB variant" RELATED [Orphanet:309246]
synonym: "GM2-gangliosidosis, AB variant" RELATED [OMIM:272750]
synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:309246]
synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750]
synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795]
xref: DOID:4795 {source="MONDO:equivalentTo"}
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309246/attributed", source="ORDO:309246/ntbt", source="Orphanet:309246"}
xref: MESH:D049290 {source="DOID:4795", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C133084 {source="MONDO:kboom-pr-1.00/0.79/8.42", source="MONDO:equivalentTo"}
xref: OMIM:272750 {source="DOID:4795", source="MONDO:equivalentTo", source="ORDO:309246/e", source="Orphanet:309246"}
xref: Orphanet:309246 {source="MONDO:equivalentTo", source="OMIM:272750"}
xref: SCTID:71253000 {source="DOID:4795", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268275 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C133084", source="DOID:4795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:309246", source="OMIM:272750"}
is_a: MONDO:0017720 {source="DOID:4795", source="MESH:D049290", source="MONDOLEX:0010099", source="Orphanet:309246", source="linkedlifedata", source="linkedlifedata/inferred"} ! GM2 gangliosidosis
property_value: exactMatch DOID:4795
property_value: exactMatch http://identifiers.org/mesh/D049290
property_value: exactMatch http://identifiers.org/omim/272750
property_value: exactMatch http://identifiers.org/snomedct/71253000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268275
property_value: exactMatch NCIT:C133084
property_value: exactMatch Orphanet:309246

[Term]
id: MONDO:0010100
name: Tay-Sachs disease
def: "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." [Orphanet:845]
subset: gard_rare {source="GARD:0007737"}
subset: ordo_disease {source="Orphanet:845"}
synonym: "B variant GM2 gangliosidosis" RELATED [GARD:0007737]
synonym: "B variant GM2-gangliosidosis" RELATED [OMIM:272800]
synonym: "disease, Tay-Sachs" EXACT [DOID:3320, MTHICD9_2006:330.1]
synonym: "gangliosidosis GM2 , type 1" RELATED [GARD:0007737]
synonym: "GM2 gangliosidosis, B, B1 variant" EXACT [Orphanet:845]
synonym: "GM2 gangliosidosis, type 1" RELATED [GARD:0007737]
synonym: "GM2-gangliosidosis, adult chronic type" RELATED [OMIM:272800]
synonym: "GM2-gangliosidosis, type 1" RELATED [OMIM:272800]
synonym: "GM2-gangliosidosis, variant B1" RELATED [OMIM:272800]
synonym: "hexa deficiency" RELATED [OMIM:272800]
synonym: "hexosaminidase A deficiency" EXACT [CSP2005:1849-8690, DOID:3320, Orphanet:845]
synonym: "hexosaminidase a deficiency" RELATED [OMIM:272800]
synonym: "hexosaminidase a deficiency, adult type" RELATED [OMIM:272800]
synonym: "hexosaminidase alpha-subunit deficiency (variant B)" RELATED [GARD:0007737]
synonym: "sphingolipidosis, Tay-Sachs" RELATED [GARD:0007737]
synonym: "Tay-Sachs disease" EXACT [MONDO:Lexical, OMIM:272800]
synonym: "Tay-Sachs disease, juvenile" RELATED [OMIM:272800]
synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [OMIM:272800]
synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800]
synonym: "TAY-Sachs disease; TSD" RELATED [OMIM:272800]
synonym: "TSD" RELATED [MONDO:Lexical, OMIM:272800]
xref: DOID:3320 {source="MONDO:equivalentTo"}
xref: GARD:0007737 {source="MONDO:equivalentTo"}
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="Orphanet:845", source="ORDO:845/inclusion", source="ORDO:845/ntbt"}
xref: ICD10:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"}
xref: MedDRA:10043147 {source="ORDO:845/e", source="Orphanet:845"}
xref: MESH:D013661 {source="DOID:3320", source="ORDO:845/e", source="Orphanet:845", source="MONDO:equivalentTo"}
xref: NCIT:C85184 {source="DOID:3320", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:272800 {source="DOID:3320", source="ORDO:845/e", source="Orphanet:845", source="MONDO:equivalentTo"}
xref: Orphanet:845 {source="OMIM:272800", source="MONDO:equivalentTo"}
xref: SCTID:111385000 {source="DOID:3320", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0039373 {source="DOID:3320", source="OMIM:272800", source="ORDO:845/e", source="Orphanet:845", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85184"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016133 {source="Orphanet:845"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017720 {source="DOID:3320", source="ICD10:E75.02", source="MESH:D013661", source="MONDOLEX:0010100", source="Orphanet:845", source="linkedlifedata"} ! GM2 gangliosidosis
is_a: MONDO:0020143 {source="Orphanet:845"} ! cerebral lipidosis with dementia
is_a: MONDO:0020282 {source="Orphanet:845"} ! metabolic disease with macular cherry-red spot
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848913
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848915
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848916
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848917
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749283
property_value: exactMatch DOID:3320
property_value: exactMatch http://identifiers.org/meddra/10043147
property_value: exactMatch http://identifiers.org/mesh/D013661
property_value: exactMatch http://identifiers.org/omim/272800
property_value: exactMatch http://identifiers.org/snomedct/111385000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848922
property_value: exactMatch NCIT:C85184
property_value: exactMatch Orphanet:845
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease xsd:anyURI {source="GARD:0007737"}

[Term]
id: MONDO:0010101
name: Teebi-Shaltout syndrome
def: "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." [Orphanet:3291]
subset: gard_rare {source="GARD:0005125"}
subset: ordo_malformation_syndrome {source="Orphanet:3291"}
synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [OMIM:272950]
synonym: "TBSH" RELATED [OMIM:272950]
synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125]
synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950]
synonym: "Teebi-Shaltout syndrome; TBSH" RELATED [OMIM:272950]
xref: GARD:0005125 {source="MONDO:equivalentTo"}
xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e", source="MONDO:ontobio"}
xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e"}
xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"}
xref: UMLS:C1848912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e", source="OMIM:272950"}
is_a: MONDO:0019287 {source="Orphanet:3291"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019710 {source="Orphanet:3291"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch http://identifiers.org/mesh/C536950
property_value: exactMatch http://identifiers.org/omim/272950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848912
property_value: exactMatch Orphanet:3291
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome xsd:anyURI {source="GARD:0005125"}

[Term]
id: MONDO:0010102
name: taurodontia-absent teeth-sparse hair syndrome
def: "This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." [Orphanet:2731]
subset: gard_rare {source="GARD:0005118"}
subset: ordo_malformation_syndrome {source="Orphanet:2731"}
synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980]
synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118]
synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [OMIM:272980]
xref: GARD:0005118 {source="MONDO:equivalentTo"}
xref: MESH:C536945 {source="Orphanet:2731", source="ORDO:2731/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:272980 {source="Orphanet:2731", source="ORDO:2731/e", source="MONDO:equivalentTo"}
xref: Orphanet:2731 {source="MONDO:equivalentTo", source="OMIM:272980"}
xref: UMLS:C1848909 {source="Orphanet:2731", source="NCBI:mim2gene_medline", source="ORDO:2731/e", source="MONDO:equivalentTo", source="OMIM:272980"}
is_a: MONDO:0015336 {source="Orphanet:2731"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C536945", source="Orphanet:2731"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536945
property_value: exactMatch http://identifiers.org/omim/272980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848909
property_value: exactMatch Orphanet:2731
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome xsd:anyURI {source="GARD:0005118"}

[Term]
id: MONDO:0010103
name: teeth, fused
synonym: "teeth, fused" EXACT [OMIM:273000]
xref: OMIM:273000 {source="MONDO:equivalentTo"}
xref: SCTID:1744008 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016873
property_value: exactMatch http://identifiers.org/omim/273000
property_value: exactMatch http://identifiers.org/snomedct/1744008

[Term]
id: MONDO:0010104
name: non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
def: "and deformed ears." [Orphanet:2972]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2972"}
synonym: "multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005027]
synonym: "multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005127]
synonym: "non erupted teeth with maxillary hypoplasia and genu valgum" RELATED [GARD:0005027]
synonym: "Stoelinga de Koomen Davis syndrome" RELATED [GARD:0005027]
synonym: "Stoelinga-de Koomen-Davis syndrome" EXACT [Orphanet:2972]
synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATED [GARD:0005127]
synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050]
xref: GARD:0005027 {source="MONDO:equivalentTo"}
xref: GARD:0005127 {source="MONDO:equivalentTo"}
xref: OMIM:273050 {source="GARD:0005027", source="ORDO:2972/e", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo"}
xref: Orphanet:2972 {source="OMIM:273050", source="MONDO:equivalentTo"}
xref: SCTID:723442008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848903 {source="ORDO:2972/e", source="GARD:0005127", source="NCBI:mim2gene_medline", source="OMIM:273050", source="Orphanet:2972", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015336 {source="Orphanet:2972"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C536952
property_value: exactMatch http://identifiers.org/mesh/C537496
property_value: exactMatch http://identifiers.org/omim/273050
property_value: exactMatch http://identifiers.org/snomedct/723442008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931509
property_value: exactMatch Orphanet:2972

[Term]
id: MONDO:0010105
name: teratoma, pineal
synonym: "teratoma, pineal" EXACT [OMIM:273120]
xref: MESH:C537401 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273120 {source="MONDO:equivalentTo"}
xref: UMLS:C1848902 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273120"}
is_a: MONDO:0004015 ! pineal region teratoma
property_value: exactMatch http://identifiers.org/mesh/C537401
property_value: exactMatch http://identifiers.org/omim/273120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848902

[Term]
id: MONDO:0010106
name: testes, rudimentary
synonym: "testes, rudimentary" EXACT [OMIM:273150]
xref: OMIM:273150 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848901
property_value: exactMatch http://identifiers.org/omim/273150

[Term]
id: MONDO:0010107
name: testicular regression syndrome
def: "Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." [Orphanet:983]
subset: ordo_morphological_anomaly {source="Orphanet:983"}
synonym: "anorchia, familial" RELATED [OMIM:273250]
synonym: "embryonic testicular regression syndrome" EXACT [Orphanet:983]
synonym: "ETRS" EXACT [Orphanet:983]
synonym: "testicular regression syndrome" EXACT [MONDO:Lexical, OMIM:273250]
synonym: "testicular regression syndrome; TRS" RELATED [OMIM:273250]
synonym: "testicular regression, embryonic" RELATED [OMIM:273250]
synonym: "TRS" EXACT [MONDO:Lexical, OMIM:273250, Orphanet:983]
synonym: "vanishing testes syndrome" EXACT [Orphanet:983]
synonym: "vanishing testis syndrome" EXACT [Orphanet:983]
synonym: "XY gonadal agenesis syndrome" RELATED [OMIM:273250]
xref: ICD10:Q55.0 {source="Orphanet:983", source="ORDO:983/specific", source="ORDO:983/e"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10002641 {source="Orphanet:983", source="ORDO:983/e"}
xref: MESH:C537770 {source="Orphanet:983", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:983/e"}
xref: OMIM:273250 {source="Orphanet:983", source="MONDO:equivalentTo", source="ORDO:983/e"}
xref: Orphanet:983 {source="MONDO:equivalentTo", source="OMIM:273250"}
xref: SCTID:53599007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0266427 {source="Orphanet:983", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273250", source="ORDO:983/e"}
is_a: MONDO:0017966 {source="Orphanet:983"} ! 46,XY disorder of gonadal development
is_a: MONDO:0020090 {source="Orphanet:983"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/meddra/10002641
property_value: exactMatch http://identifiers.org/mesh/C537770
property_value: exactMatch http://identifiers.org/omim/273250
property_value: exactMatch http://identifiers.org/snomedct/53599007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0405582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261504
property_value: exactMatch Orphanet:983

[Term]
id: MONDO:0010108
name: testicular germ cell tumor
def: "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C8591]
subset: ordo_group_of_disorders {source="Orphanet:363504"}
synonym: "embryonal cell carcinoma" RELATED [OMIM:273300]
synonym: "endodermal sinus tumor" RELATED [OMIM:273300]
synonym: "germ cell neoplasm of testis" EXACT [NCIT:C8591]
synonym: "germ cell neoplasm of the testis" EXACT [NCIT:C8591]
synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591]
synonym: "germ cell tumor of the testis" EXACT [NCIT:C8591]
synonym: "Male germ cell tumor" RELATED [OMIM:273300]
synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300]
synonym: "seminoma" RELATED [OMIM:273300]
synonym: "spermatocytic seminoma" RELATED [OMIM:273300]
synonym: "teratoma, testicular" RELATED [OMIM:273300]
synonym: "testicular germ cell cancer" RELATED [DOID:5557]
synonym: "testicular germ cell neoplasm" EXACT [DOID:5557, NCIT:C8591]
synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591]
synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504]
synonym: "testicular germ cell tumor; TGCT" RELATED [OMIM:273300]
synonym: "testis germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "TGCT" EXACT [NCIT:C8591]
synonym: "TGCT" RELATED [MONDO:Lexical, OMIM:273300]
xref: DOID:5557 {source="MONDO:equivalentTo"}
xref: EFO:1000566 {source="MONDO:equivalentTo"}
xref: GARD:0013047 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C62.1 {source="ORDO:363504/ntbt", source="Orphanet:363504"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563236 {source="DOID:5557", source="MONDO:equivalentTo"}
xref: NCIT:C8591 {source="DesignPattern", source="DOID:5557", source="MONDO:equivalentTo"}
xref: OMIM:273300 {source="DOID:5557", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:1000566", source="Orphanet:363504", source="ORDO:363504/e"}
xref: Orphanet:363504 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:273300"}
xref: SCTID:713577007 {source="DesignPattern", source="DOID:5557", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.83/6.36"}
xref: UMLS:C1336708 {source="DOID:5557", source="MONDO:equivalentTo", source="Orphanet:363504", source="NCIT:C8591", source="OMIM:273300"}
is_a: MONDO:0018191 {source="Orphanet:363504"} ! tumor of testis and paratestis
is_a: MONDO:0018202 {source="Orphanet:363504"} ! gonadal germ cell tumor
is_a: MONDO:0021348 {source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591", source="linkedlifedata"} ! neoplasm of testis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036631
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153594
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3463918
property_value: closeMatch Orphanet:3636504
property_value: exactMatch DOID:5557
property_value: exactMatch http://identifiers.org/mesh/C563236
property_value: exactMatch http://identifiers.org/omim/273300
property_value: exactMatch http://identifiers.org/snomedct/713577007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336708
property_value: exactMatch NCIT:C8591
property_value: exactMatch Orphanet:363504

[Term]
id: MONDO:0010109
name: tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
subset: gard_rare {source="GARD:0005146"}
synonym: "Madokoro Ohdo Sonoda syndrome" RELATED [GARD:0003348]
synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" RELATED [GARD:0003348]
synonym: "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" EXACT [OMIM:273390]
xref: GARD:0003348 {source="MONDO:equivalentTo"}
xref: GARD:0005146 {source="MONDO:equivalentTo"}
xref: MESH:C536496 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273390 {source="GARD:0003348", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C536496/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749282
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931214
property_value: exactMatch http://identifiers.org/mesh/C536496
property_value: exactMatch http://identifiers.org/omim/273390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome xsd:anyURI {source="GARD:0003348"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities xsd:anyURI {source="GARD:0005146"}

[Term]
id: MONDO:0010110
name: tetraamelia-multiple malformations syndrome
def: "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." [Orphanet:3301]
comment: TODO split OMIM out
subset: ordo_malformation_syndrome {source="Orphanet:3301"}
synonym: "TETAMS" RELATED [MONDO:Lexical, OMIM:273395]
synonym: "Tetraamelia multiple malformations X-linked" RELATED [GARD:0000386]
synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMIM:273395]
synonym: "TETRAAMELIA syndrome, autosomal recessive; TETAMS" RELATED [OMIM:273395]
synonym: "Zimmer phocomelia" EXACT [Orphanet:3301]
synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386]
xref: GARD:0000386 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3301", source="ORDO:3301/attributed", source="ORDO:3301/ntbt"}
xref: MESH:C536500 {source="Orphanet:3301", source="ORDO:3301/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3301 {source="MONDO:equivalentTo", source="OMIM:273395"}
xref: SCTID:716249009 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
xref: UMLS:C2931218 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:3301", source="ORDO:3301/e", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:3301"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:3301", source="Orphanet:3301/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3301"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749279
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931216
property_value: exactMatch http://identifiers.org/mesh/C536500
property_value: exactMatch http://identifiers.org/omim/273395
property_value: exactMatch http://identifiers.org/snomedct/716249009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931218
property_value: exactMatch Orphanet:3301

[Term]
id: MONDO:0010111
name: odontotrichomelic syndrome
def: "Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." [Orphanet:2723]
subset: ordo_malformation_syndrome {source="Orphanet:2723"}
synonym: "Freire-Maia syndrome" EXACT [Orphanet:2723]
synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400]
synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" RELATED [OMIM:273400]
xref: OMIM:273400 {source="MONDO:equivalentTo", source="ORDO:2723/e", source="Orphanet:2723"}
xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"}
xref: SCTID:239028001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN074199 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009263 ! gapo syndrome
is_a: MONDO:0015335 {source="Orphanet:2723"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/273400
property_value: exactMatch http://identifiers.org/snomedct/239028001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074199
property_value: exactMatch Orphanet:2723

[Term]
id: MONDO:0010112
name: thalamic degeneration, symmetric infantile
subset: gard_rare {source="GARD:0005160"}
synonym: "symmetric infantile thalamic degeneration" RELATED [GARD:0005160]
synonym: "symmetrical thalamic degeneration in infants" RELATED [GARD:0005160]
synonym: "thalamic degeneration, symmetric infantile" EXACT [OMIM:273490]
xref: GARD:0005160 {source="MONDO:equivalentTo"}
xref: MESH:C536504 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273490 {source="MONDO:equivalentTo"}
xref: Orphanet:3311 {source="OMIM:273490", source="MONDO:equivalentTo"}
xref: UMLS:C2931220 {source="OMIM:273490", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848867
property_value: exactMatch http://identifiers.org/mesh/C536504
property_value: exactMatch http://identifiers.org/omim/273490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931220
property_value: exactMatch Orphanet:3311
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile xsd:anyURI {source="GARD:0005160"}

[Term]
id: MONDO:0010113
name: thalidomide susceptibility
subset: predisposition
synonym: "thalidomide susceptibility" EXACT [OMIM:273600]
xref: OMIM:273600 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848866
property_value: exactMatch http://identifiers.org/omim/273600

[Term]
id: MONDO:0010114
name: thanatophoric dysplasia, Glasgow variant
synonym: "neonatally lethal short-limb skeletal dysplasia, Glasgow type" RELATED [OMIM:273680]
synonym: "thanatophoric dysplasia, Glasgow variant" EXACT [OMIM:273680]
xref: MESH:C536506 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273680 {source="MONDO:equivalentTo"}
xref: Orphanet:93275 {source="MONDO:equivalentTo", source="OMIM:273680"}
xref: UMLS:C1848865 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273680"}
is_a: MONDO:0017042 {source="DC-OMIM:273680", source="MESH:C536506"} ! thanatophoric dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536506
property_value: exactMatch http://identifiers.org/omim/273680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848865
property_value: exactMatch Orphanet:93275

[Term]
id: MONDO:0010115
name: thoracic dysplasia-hydrocephalus syndrome
subset: gard_rare {source="GARD:0005180"}
subset: ordo_malformation_syndrome {source="Orphanet:1861"}
synonym: "thoracic dysplasia hydrocephalus syndrome" RELATED [GARD:0005180]
synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730]
xref: GARD:0005180 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1861", source="ORDO:1861/ntbt"}
xref: MESH:C564774 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273730 {source="ORDO:1861/e", source="Orphanet:1861", source="MONDO:equivalentTo"}
xref: Orphanet:1861 {source="MONDO:equivalentTo", source="OMIM:273730"}
xref: UMLS:C1848864 {source="NCBI:mim2gene_medline", source="Orphanet:1861", source="MONDO:equivalentTo", source="OMIM:273730"}
is_a: MONDO:0015929 {source="Orphanet:1861"} ! thoracic malformation
property_value: exactMatch http://identifiers.org/mesh/C564774
property_value: exactMatch http://identifiers.org/omim/273730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848864
property_value: exactMatch Orphanet:1861
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome xsd:anyURI {source="GARD:0005180"}

[Term]
id: MONDO:0010116
name: thoracomelic dysplasia
subset: ordo_disease {source="Orphanet:1803"}
synonym: "'thoraco-limb' dysplasia" RELATED [OMIM:273740]
synonym: "Rivera-Perez-Salas syndrome" EXACT [Orphanet:1803]
synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612]
synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803]
synonym: "thoracomelic dysplasia" EXACT [OMIM:273740]
xref: GARD:0010612 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.2 {source="ORDO:1803/attributed", source="ORDO:1803/ntbt", source="Orphanet:1803"}
xref: MESH:C564773 {source="MONDO:equivalentTo"}
xref: OMIM:273740 {source="MONDO:equivalentTo", source="ORDO:1803/e", source="Orphanet:1803"}
xref: Orphanet:1803 {source="MONDO:equivalentTo", source="OMIM:273740"}
xref: UMLS:C1848863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273740", source="Orphanet:1803"}
is_a: MONDO:0015929 {source="Orphanet:1803"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:1803"} ! short rib dysplasia
property_value: exactMatch http://identifiers.org/mesh/C564773
property_value: exactMatch http://identifiers.org/omim/273740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931227
property_value: exactMatch Orphanet:1803

[Term]
id: MONDO:0010117
name: three M syndrome 1
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3-M syndrome caused by mutation in CUL7" EXACT []
synonym: "3-M syndrome caused by mutation in Cul7" EXACT [MONDO:design_pattern]
synonym: "3M syndrome" RELATED [OMIM:273750]
synonym: "3M1" RELATED [MONDO:Lexical, OMIM:273750]
synonym: "CUL7 3-M syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Cul7 3-M syndrome" EXACT [MONDO:design_pattern]
synonym: "Dolichospondylic dysplasia" RELATED [OMIM:273750]
synonym: "gloomy face syndrome" RELATED [OMIM:273750]
synonym: "Le Merrer syndrome" RELATED [OMIM:273750]
synonym: "three M syndrome 1" EXACT [MONDO:Lexical, OMIM:273750]
synonym: "three M syndrome 1; 3M1" RELATED [OMIM:273750]
synonym: "three M syndrome type 1" EXACT [MONDORULE:1, OMIM:273750]
synonym: "Yakut short stature syndrome" RELATED [OMIM:273750]
xref: OMIM:273750 {source="MONDO:equivalentTo"}
is_a: MONDO:0007477 {source="DC-OMIM:273750", source="MONDO:Redundant", source="OMIM:273750"} ! 3-M syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678312
property_value: exactMatch http://identifiers.org/omim/273750

[Term]
id: MONDO:0010118
name: Threoninemia
synonym: "hyperthreoninemia" RELATED [OMIM:273770]
synonym: "Threoninemia" EXACT [OMIM:273770]
xref: OMIM:273770 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848861
property_value: exactMatch http://identifiers.org/omim/273770

[Term]
id: MONDO:0010119
name: Glanzmann's thrombasthenia
def: "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." [Orphanet:849]
subset: ordo_disease {source="Orphanet:849"}
synonym: "BDPLT2" EXACT [DOID:2219]
synonym: "bleeding disorder, Platelet-type, 2" RELATED [OMIM:273800]
synonym: "deficiency of glycoprotein complex IIb-IIIa" EXACT [DOID:2219]
synonym: "deficiency of GP 2B 3A complex" RELATED [GARD:0002478]
synonym: "deficiency of GP IIb-IIIa complex" EXACT [DOID:2219]
synonym: "deficiency of platelet fibrinogen receptor" EXACT [DOID:2219]
synonym: "Diacyclothrombopathia 2B 3A" RELATED [GARD:0002478]
synonym: "Glanzmann thrombasthenia" EXACT [DOID:2219, MONDO:Lexical, OMIM:273800]
synonym: "Glanzmann thrombasthenia type A" RELATED [GARD:0002478]
synonym: "Glanzmann thrombasthenia; GT" RELATED [OMIM:273800]
synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [OMIM:273800]
synonym: "glycoprotein IIb/IIIa defect" EXACT [DOID:2219]
synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [OMIM:273800]
synonym: "GT" RELATED [MONDO:Lexical, OMIM:273800]
synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [OMIM:273800]
synonym: "Platelet glycoprotein 2B 3A deficiency" RELATED [GARD:0002478]
synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [OMIM:273800]
synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219]
synonym: "platelet-type bleeding disorder 2" EXACT [DOID:2219]
synonym: "thrombasthenia" EXACT [NCIT:C61249]
synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800]
synonym: "Thrombocytasthenia" EXACT [DOID:2219, MTHICD9_2006:287.1]
xref: DOID:2219 {source="MONDO:equivalentTo"}
xref: GARD:0002478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.1 {source="ORDO:849/ntbt", source="Orphanet:849", source="DOID:2219", source="ORDO:849/inclusion"}
xref: MESH:D013915 {source="MONDO:equivalentTo", source="DOID:2219", source="MONDO:ontobio"}
xref: NCIT:C61249 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2219"}
xref: OMIM:273800 {source="MONDO:equivalentTo", source="ORDO:849/e", source="Orphanet:849", source="DOID:2219"}
xref: Orphanet:849 {source="OMIM:273800", source="MONDO:equivalentTo", source="DOID:2219"}
xref: SCTID:32942005 {source="MONDO:equivalentTo", source="DOID:2219", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017142 {source="Orphanet:849"} ! hemorrhagic disorder due to a qualitative platelet defect
property_value: closeMatch http://identifiers.org/snomedct/191310008
property_value: closeMatch http://identifiers.org/snomedct/30577005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040015
property_value: exactMatch DOID:2219
property_value: exactMatch http://identifiers.org/mesh/D013915
property_value: exactMatch http://identifiers.org/omim/273800
property_value: exactMatch http://identifiers.org/snomedct/32942005
property_value: exactMatch NCIT:C61249
property_value: exactMatch Orphanet:849

[Term]
id: MONDO:0010120
name: THC3
synonym: "THC3" EXACT [MONDO:Lexical, OMIM:273900]
synonym: "thrombocytopenia 3" RELATED [MONDO:Lexical, OMIM:273900]
synonym: "thrombocytopenia 3; THC3" RELATED [OMIM:273900]
synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [OMIM:273900]
xref: MESH:C567487 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:273900 {source="MONDO:equivalentTo"}
xref: UMLS:C2678311 {source="OMIM:273900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets
property_value: exactMatch http://identifiers.org/mesh/C567487
property_value: exactMatch http://identifiers.org/omim/273900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678311

[Term]
id: MONDO:0010121
name: thrombocytopenia-absent radius syndrome
def: "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." [Orphanet:3320]
subset: ordo_malformation_syndrome {source="Orphanet:3320"}
synonym: "absent radii and thrombocytopenia" RELATED [GARD:0005116]
synonym: "chromosome 1q21.1 deletion syndrome" EXACT EXCLUDE [DOID:14699]
synonym: "chromosome 1Q21.1 deletion syndrome, 200-Kb" RELATED [OMIM:274000]
synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [NCIT:C99038]
synonym: "TAR" RELATED [MONDO:Lexical, OMIM:274000]
synonym: "TAR syndrome" EXACT [Orphanet:3320]
synonym: "Tar syndrome" RELATED [OMIM:274000]
synonym: "thrombocytopenia absent radii" RELATED [GARD:0005116]
synonym: "thrombocytopenia absent radius syndrome" RELATED [GARD:0005116]
synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699, MTHICD9_2006:287.33]
synonym: "thrombocytopenia-absent radius syndrome" EXACT [MONDO:Lexical, OMIM:274000]
synonym: "thrombocytopenia-absent radius syndrome; TAR" RELATED [OMIM:274000]
xref: DOID:14699 {source="MONDO:equivalentTo"}
xref: GARD:0005116 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="Orphanet:3320", source="ORDO:3320/inclusion", source="ORDO:3320/ntbt", source="DOID:14699"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071719 {source="Orphanet:3320", source="ORDO:3320/e"}
xref: NCIT:C99038 {source="MONDO:equivalentTo", source="DOID:14699", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source="ORDO:3320/e", source="DOID:14699"}
xref: Orphanet:3320 {source="MONDO:equivalentTo", source="OMIM:274000"}
xref: SCTID:85589009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.91", source="DOID:14699"}
xref: UMLS:C0175703 {source="Orphanet:3320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274000", source="NCIT:C99038", source="ORDO:3320/e", source="DOID:14699"}
is_a: MONDO:0000761 {source="DOID:14699"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0017432 {source="Orphanet:3320"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:3320", source="Orphanet:3320/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018795 {source="Orphanet:3320"} ! syndromic constitutional thrombocytopenia
property_value: closeMatch http://identifiers.org/mesh/C536940
property_value: exactMatch DOID:14699
property_value: exactMatch http://identifiers.org/meddra/10071719
property_value: exactMatch http://identifiers.org/omim/274000
property_value: exactMatch http://identifiers.org/snomedct/85589009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175703
property_value: exactMatch NCIT:C99038
property_value: exactMatch Orphanet:3320

[Term]
id: MONDO:0010122
name: congenital thrombotic thrombocytopenic purpura
def: "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93583]
subset: ordo_clinical_subtype {source="Orphanet:93583"}
synonym: "congenital ADAMTS-13 deficiency" EXACT [Orphanet:93583]
synonym: "congenital ADAMTS13 deficiency" EXACT [NCIT:C131657]
synonym: "congenital TTP" EXACT [Orphanet:93583]
synonym: "familial TTP" EXACT [Orphanet:93583]
synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/hereditary]
synonym: "Microangiopathic hemolytic Anemia" RELATED [OMIM:274150]
synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [OMIM:274150]
synonym: "Schulman-Upshaw syndrome" RELATED [OMIM:274150]
synonym: "thrombotic microangiopathy, familial" RELATED [OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, congenital" RELATED [MONDO:Lexical, OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, congenital; TTP" RELATED [OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, familial" RELATED [OMIM:274150]
synonym: "TTP" RELATED [MONDO:Lexical, OMIM:274150]
synonym: "TTP, congenital" RELATED [GARD:0009430]
synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150]
synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583]
synonym: "USS" RELATED [GARD:0009430]
xref: GARD:0009430 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M31.3 {source="MONDO:relatedTo", source="Orphanet:93583", source="ORDO:93583/attributed", source="ORDO:93583/ntbt"}
xref: ICD9:287.33 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C131657 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.80/1.81"}
xref: OMIM:274150 {source="Orphanet:93583", source="MONDO:equivalentTo", source="ORDO:93583/e"}
xref: Orphanet:93583 {source="OMIM:274150", source="MONDO:equivalentTo"}
xref: SCTID:373420004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.64/0.80"}
is_a: MONDO:0000009 ! inherited bleeding disorder, platelet-type
is_a: MONDO:0018896 {source="MONDO:Redundant", source="MONDOLEX:0010122", source="NCIT:C131657", source="Orphanet:93583", source="linkedlifedata"} ! thrombotic thrombocytopenic purpura
is_a: MONDO:0021181 {source="MONDO:Entailed", source="Orphanet:93583", source="indirect"} ! inherited blood coagulation disorder
intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1268935
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1956258
property_value: exactMatch http://identifiers.org/omim/274150
property_value: exactMatch http://identifiers.org/snomedct/373420004
property_value: exactMatch NCIT:C131657
property_value: exactMatch Orphanet:93583

[Term]
id: MONDO:0010123
name: absent thumb-short stature-immunodeficiency syndrome
def: "Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951]
subset: ordo_malformation_syndrome {source="Orphanet:2951"}
synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190]
xref: ICD10:D82.8 {source="Orphanet:2951", source="ORDO:2951/attributed", source="ORDO:2951/ntbt"}
xref: MESH:C564770 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274190 {source="Orphanet:2951", source="ORDO:2951/e", source="MONDO:equivalentTo"}
xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:equivalentTo"}
xref: UMLS:C1848818 {source="OMIM:274190", source="Orphanet:2951", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018035 {source="Orphanet:2951"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C564770
property_value: exactMatch http://identifiers.org/omim/274190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848818
property_value: exactMatch Orphanet:2951

[Term]
id: MONDO:0010124
name: thumb, distal hyperextensibility of
synonym: "thumb, distal hyperextensibility of" EXACT [OMIM:274200]
xref: OMIM:274200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848817
property_value: exactMatch http://identifiers.org/omim/274200

[Term]
id: MONDO:0010125
name: upper limb defect-eye and ear abnormalities syndrome
def: "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." [Orphanet:2489]
subset: ordo_malformation_syndrome {source="Orphanet:2489"}
synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205]
xref: ICD10:Q87.8 {source="Orphanet:2489", source="ORDO:2489/attributed", source="ORDO:2489/ntbt"}
xref: MESH:C564769 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274205 {source="Orphanet:2489", source="ORDO:2489/e", source="MONDO:equivalentTo"}
xref: Orphanet:2489 {source="MONDO:equivalentTo", source="OMIM:274205"}
xref: UMLS:C1848816 {source="Orphanet:2489", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274205"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2489", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2489"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564769
property_value: exactMatch http://identifiers.org/omim/274205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848816
property_value: exactMatch Orphanet:2489

[Term]
id: MONDO:0010126
name: thymic aplasia with fetal death
synonym: "thymic aplasia with fetal death" EXACT [OMIM:274210]
xref: MESH:C564768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274210 {source="MONDO:equivalentTo"}
xref: UMLS:C1848815 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274210"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564768
property_value: exactMatch http://identifiers.org/omim/274210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848815

[Term]
id: MONDO:0010127
name: thymoma, familial
def: "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary thymoma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "thymic neoplasia" RELATED [OMIM:274230]
synonym: "thymoma, familial" EXACT [OMIM:274230]
xref: MESH:C564767 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274230 {source="MONDO:equivalentTo"}
xref: UMLS:C1848814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274230"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006456 {source="MONDO:Redundant", source="MONDOLEX:0010127", source="ORDO:99867/btnt"} ! thymoma (disease)
intersection_of: MONDO:0006456 ! thymoma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C564767
property_value: exactMatch http://identifiers.org/omim/274230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848814

[Term]
id: MONDO:0010128
name: thyrocerebrorenal syndrome
def: "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." [Orphanet:3327]
subset: ordo_malformation_syndrome {source="Orphanet:3327"}
synonym: "cutler-Bass-Romshe syndrome" EXACT [Orphanet:3327]
synonym: "Thyrocerebral-retinal syndrome" RELATED [GARD:0005203]
synonym: "THYROCEREBRORETINAL syndrome" RELATED [OMIM:274240]
xref: GARD:0005203 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536908 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="ORDO:3327/e"}
xref: Orphanet:3327 {source="MONDO:equivalentTo", source="OMIM:274240"}
xref: SCTID:733096007 {source="MONDO:equivalentTo"}
xref: UMLS:C1848813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3327", source="OMIM:274240", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4518579 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0019721 {source="Orphanet:3327"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C536908
property_value: exactMatch http://identifiers.org/omim/274240
property_value: exactMatch http://identifiers.org/snomedct/733096007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518579
property_value: exactMatch Orphanet:3327

[Term]
id: MONDO:0010129
name: thymic-renal-anal-lung dysplasia
def: "This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." [Orphanet:3326]
subset: gard_rare {source="GARD:0005202"}
subset: ordo_malformation_syndrome {source="Orphanet:3326"}
synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202]
synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265]
xref: GARD:0005202 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3326/attributed", source="ORDO:3326/ntbt", source="Orphanet:3326"}
xref: MESH:C536907 {source="ORDO:3326/e", source="MONDO:equivalentTo", source="Orphanet:3326", source="MONDO:ontobio"}
xref: OMIM:274265 {source="ORDO:3326/e", source="MONDO:equivalentTo", source="Orphanet:3326"}
xref: Orphanet:3326 {source="MONDO:equivalentTo", source="OMIM:274265"}
xref: SCTID:723555007 {source="MONDO:equivalentTo"}
xref: UMLS:C1848812 {source="ORDO:3326/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3326", source="OMIM:274265"}
is_a: MONDO:0019721 {source="Orphanet:3326"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="Orphanet:3326"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536907
property_value: exactMatch http://identifiers.org/omim/274265
property_value: exactMatch http://identifiers.org/snomedct/723555007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848812
property_value: exactMatch Orphanet:3326
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia xsd:anyURI {source="GARD:0005202"}

[Term]
id: MONDO:0010130
name: dihydropyrimidine dehydrogenase deficiency
def: "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly , increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency]
subset: gard_rare {source="GARD:0000019"}
subset: ordo_disease {source="Orphanet:1675"}
synonym: "5-fluorouracil toxicity" RELATED [OMIM:274270]
synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [OMIM:274270]
synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, NCIT:C3964]
synonym: "DPD deficiency" RELATED [OMIM:274270]
synonym: "Dpyd deficiency" RELATED [OMIM:274270]
synonym: "DYPD deficiency" EXACT [NCIT:C84672]
synonym: "familial pyrimidinaemia" EXACT [DOID:14218]
synonym: "familial pyrimidinemia" EXACT [Orphanet:1675]
synonym: "hereditary thymine-uraciluria" RELATED [GARD:0000019]
synonym: "pyrimidinemia, familial" RELATED [OMIM:274270]
synonym: "thymine-uracilurea" EXACT [DOID:14218]
synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270]
xref: DOID:14218 {source="MONDO:equivalentTo"}
xref: GARD:0000019 {source="MONDO:equivalentTo"}
xref: ICD10:E79.8 {source="Orphanet:1675", source="ORDO:1675/attributed", source="ORDO:1675/ntbt"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10052622 {source="Orphanet:1675", source="ORDO:1675/e"}
xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo"}
xref: NCIT:C84672 {source="DOID:14218", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: OMIM:274270 {source="DOID:14218", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo"}
xref: Orphanet:1675 {source="OMIM:274270", source="MONDO:equivalentTo"}
xref: SCTID:77365006 {source="DOID:14218", source="MONDO:kboom-pr-1.00/0.79/7.96", source="MONDO:equivalentTo"}
xref: UMLS:C1959620 {source="DOID:14218", source="OMIM:274270", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo", source="NCIT:C84672"}
is_a: MONDO:0018385 ! osteochondrosis of genetic origin
is_a: MONDO:0019238 {source="Orphanet:1675"} ! inborn disorder of pyrimidine metabolism
property_value: closeMatch http://identifiers.org/snomedct/238016000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0274576
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2720286
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495551
property_value: closeMatch NCIT:C3964
property_value: exactMatch DOID:14218
property_value: exactMatch http://identifiers.org/meddra/10052622
property_value: exactMatch http://identifiers.org/mesh/D054067
property_value: exactMatch http://identifiers.org/omim/274270
property_value: exactMatch http://identifiers.org/snomedct/77365006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959620
property_value: exactMatch NCIT:C84672
property_value: exactMatch Orphanet:1675
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency xsd:anyURI {source="GARD:0000019"}

[Term]
id: MONDO:0010131
name: thyroid hormone resistance, generalized, autosomal recessive
def: "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." [NCIT:C85191]
subset: gard_rare
synonym: "GRTH" RELATED [GARD:0000301, MONDO:Lexical, OMIM:274300]
synonym: "Gthr" RELATED [OMIM:274300]
synonym: "Refetoff syndrome" RELATED [GARD:0000301, OMIM:274300]
synonym: "THRB" RELATED [GARD:0000301]
synonym: "thyroid hormone receptor BETA" RELATED [GARD:0000301]
synonym: "thyroid hormone Resistance" EXACT [NCIT:C85191]
synonym: "thyroid hormone Resistance syndrome" EXACT [NCIT:C85191]
synonym: "thyroid hormone Resistance syndrome" RELATED [NCIT:C85191]
synonym: "thyroid hormone resistance, generalized, autosomal recessive" EXACT [MONDO:Lexical, OMIM:274300]
synonym: "thyroid hormone resistance, generalized, autosomal recessive; GRTH" RELATED [OMIM:274300]
synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:274300]
xref: GARD:0000301 {source="MONDO:equivalentTo"}
xref: HGNC:11799 {source="GARD:0000301"}
xref: NCIT:C85191 {source="NCIT-text-definition", source="MONDO:equivalentTo"}
xref: OMIM:274300 {source="MONDO:equivalentTo"}
is_a: MONDO:0009043 {source="MONDOLEX:0010131", source="ORDO:3221/btnt"} ! generalized resistance to thyroid hormone
is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:3221-moved-down"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242604
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2940786
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489796
property_value: exactMatch http://identifiers.org/omim/274300
property_value: exactMatch NCIT:C85191

[Term]
id: MONDO:0010132
name: familial thyroid dyshormonogenesis
def: "Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." [Orphanet:95716]
subset: ordo_disease {source="Orphanet:95716"}
synonym: "dyshormonogenesis" BROAD [NCIT:C121751]
synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716]
xref: ICD10:E03.0 {source="ORDO:95716/attributed", source="ORDO:95716/ntbt", source="Orphanet:95716"}
xref: ICD10:E03.1 {source="ORDO:95716/attributed", source="ORDO:95716/ntbt", source="Orphanet:95716"}
xref: MESH:C564766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C121751 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"}
xref: SCTID:718183003 {source="MONDO:equivalentTo"}
xref: UMLS:C1848805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274400"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0019856 {source="Orphanet:95716"} ! primary congenital hypothyroidism without thyroid developmental anomaly
property_value: exactMatch http://identifiers.org/mesh/C564766
property_value: exactMatch http://identifiers.org/snomedct/718183003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848805
property_value: exactMatch NCIT:C121751
property_value: exactMatch Orphanet:95716

[Term]
id: MONDO:0010133
name: thyroid dyshormonogenesis 2A
def: "thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." [NCIT:C121750]
synonym: "familial thyroid dyshormonogenesis caused by mutation in TPO" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2A" EXACT [OMIM:274500]
synonym: "iodide peroxidase deficiency" RELATED [OMIM:274500]
synonym: "TDH2A" EXACT [MONDO:Lexical, OMIM:274500]
synonym: "thyroid dyshormonogenesis 2A" EXACT [MONDO:Lexical, OMIM:274500]
synonym: "thyroid dyshormonogenesis 2A; TDH2A" EXACT [OMIM:274500]
synonym: "thyroid dyshormonogenesis type 2A" EXACT [MONDORULE:4, OMIM:274500]
synonym: "thyroid hormonogenesis, genetic defect in, 2A" EXACT [OMIM:274500]
synonym: "thyroid peroxidase deficiency" RELATED [OMIM:274500]
synonym: "TPO familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C121750 {source="MONDO:equivalentTo"}
xref: OMIM:274500 {source="MONDO:equivalentTo"}
xref: SCTID:124204003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.47"}
xref: UMLS:C1291299 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274500"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/mesh/C563206
property_value: exactMatch http://identifiers.org/omim/274500
property_value: exactMatch http://identifiers.org/snomedct/124204003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291299
property_value: exactMatch NCIT:C121750

[Term]
id: MONDO:0010134
name: Pendred syndrome
def: "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." [Orphanet:705]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:705"}
synonym: "autosomal recessive sensorineural hearing impairment and goiter" RELATED [GARD:0004271]
synonym: "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT [DOID:0060744]
synonym: "deafness with goiter" EXACT [DOID:0060744, OMIM:274600]
synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [DOID:0060744]
synonym: "goiter-deafness syndrome" EXACT [DOID:0060744, OMIM:274600, Orphanet:705]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2B" EXACT [OMIM:274600]
synonym: "PDS" RELATED [MONDO:Lexical, OMIM:274600]
synonym: "Pendred syndrome" EXACT [MONDO:Lexical, OMIM:274600]
synonym: "Pendred syndrome; PDS" RELATED [OMIM:274600]
synonym: "TDH2B" EXACT [DOID:0060744]
synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600]
synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600]
xref: DOID:0060744 {source="MONDO:equivalentTo"}
xref: GARD:0004271 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E07.1 {source="ORDO:705/ntbt", source="DOID:0060744", source="Orphanet:705", source="ORDO:705/inclusion"}
xref: MESH:C536648 {source="ORDO:705/e", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="MONDO:ontobio"}
xref: NCIT:C121745 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:274600 {source="ORDO:705/e", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705"}
xref: Orphanet:705 {source="MONDO:equivalentTo", source="DOID:0060744", source="OMIM:274600"}
xref: SCTID:70348004 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
xref: UMLS:C0271829 {source="NCIT:C121745", source="ORDO:705/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="OMIM:274600"}
is_a: MONDO:0006025 {source="DOID:0060744", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015778 {source="MONDO:Redundant", source="Orphanet:705"} ! syndromic hypothyroidism
is_a: MONDO:0019589 {source="Orphanet:705"} ! syndromic genetic deafness
property_value: exactMatch DOID:0060744
property_value: exactMatch http://identifiers.org/mesh/C536648
property_value: exactMatch http://identifiers.org/omim/274600
property_value: exactMatch http://identifiers.org/snomedct/70348004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271829
property_value: exactMatch NCIT:C121745
property_value: exactMatch Orphanet:705

[Term]
id: MONDO:0010135
name: thyroid dyshormonogenesis 3
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial thyroid dyshormonogenesis caused by mutation in TG" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 3" EXACT [OMIM:274700]
synonym: "TDH3" EXACT [MONDO:Lexical, OMIM:274700]
synonym: "TG familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyroid dyshormonogenesis 3" EXACT [MONDO:Lexical, OMIM:274700]
synonym: "thyroid dyshormonogenesis 3; TDH3" EXACT [OMIM:274700]
synonym: "thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1, OMIM:274700]
synonym: "thyroid hormonogenesis, genetic defect in, 3" EXACT [OMIM:274700]
xref: MESH:C562769 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274700 {source="MONDO:equivalentTo"}
xref: SCTID:23536000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0342194 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274700"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/mesh/C562769
property_value: exactMatch http://identifiers.org/omim/274700
property_value: exactMatch http://identifiers.org/snomedct/23536000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342194

[Term]
id: MONDO:0010136
name: thyroid dyshormonogenesis 4
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "deiodinase deficiency" RELATED [OMIM:274800]
synonym: "familial thyroid dyshormonogenesis caused by mutation in IYD" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 4" EXACT [OMIM:274800]
synonym: "iodotyrosine dehalogenase deficiency" RELATED [OMIM:274800]
synonym: "IYD familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TDH4" EXACT [MONDO:Lexical, OMIM:274800]
synonym: "thyroid dyshormonogenesis 4" EXACT [MONDO:Lexical, OMIM:274800]
synonym: "thyroid dyshormonogenesis 4; TDH4" EXACT [OMIM:274800]
synonym: "thyroid dyshormonogenesis type 4" EXACT [MONDORULE:1, OMIM:274800]
synonym: "thyroid hormonogenesis, genetic defect in, 4" EXACT [OMIM:274800]
xref: MESH:C562770 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274800 {source="MONDO:equivalentTo"}
xref: SCTID:17885001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.74"}
xref: UMLS:C0342195 {source="OMIM:274800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/mesh/C562770
property_value: exactMatch http://identifiers.org/omim/274800
property_value: exactMatch http://identifiers.org/snomedct/17885001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342195

[Term]
id: MONDO:0010137
name: thyroid dyshormonogenesis 5
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DUOXA2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOXA2" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 5" EXACT [OMIM:274900]
synonym: "TDH5" EXACT [MONDO:Lexical, OMIM:274900]
synonym: "thyroid dyshormonogenesis 5" EXACT [MONDO:Lexical, OMIM:274900]
synonym: "thyroid dyshormonogenesis 5; TDH5" EXACT [OMIM:274900]
synonym: "thyroid dyshormonogenesis type 5" EXACT [MONDORULE:1, OMIM:274900]
synonym: "thyroid hormonogenesis, genetic defect in, 5" EXACT [OMIM:274900]
xref: MESH:C562771 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:274900 {source="MONDO:equivalentTo"}
xref: SCTID:63127008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0342196 {source="OMIM:274900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/mesh/C562771
property_value: exactMatch http://identifiers.org/omim/274900
property_value: exactMatch http://identifiers.org/snomedct/63127008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342196

[Term]
id: MONDO:0010138
name: thyrotoxicosis
def: "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." [NCIT:P378]
comment: Editor note: TODO separate out predisposition
subset: predisposition
synonym: "Graves disease, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:275000]
synonym: "Graves disease, susceptibility to, 1; GRD1" RELATED [OMIM:275000]
synonym: "Grd" RELATED [OMIM:275000]
synonym: "GRD1" RELATED [MONDO:Lexical, OMIM:275000]
synonym: "hyperthyroidism, autoimmune" RELATED [OMIM:275000]
synonym: "thyrotoxicosis" EXACT [OMIM:275000]
xref: COHD:138387 {source="MONDO:equivalentTo"}
xref: DOID:7997 {source="MONDO:equivalentTo"}
xref: EFO:0009190 {source="MONDO:equivalentTo"}
xref: ICD10:E05.9 {source="DOID:7997"}
xref: ICD9:242 {source="DOID:7997"}
xref: ICD9:242.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:242.90 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013971 {source="DOID:7997", source="MONDO:equivalentTo"}
xref: NCIT:C61469 {source="DOID:7997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:275000 {source="DOID:7997", source="MONDO:equivalentTo"}
xref: SCTID:90739004 {source="DOID:7997", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.34"}
xref: UMLS:C0040156 {source="DOID:7997", source="NCIT:C61469", source="MONDO:equivalentTo", source="OMIM:275000"}
is_a: MONDO:0005364 {source="DC-OMIM:275000", source="MONDOLEX:0010138"} ! Graves disease
property_value: closeMatch http://identifiers.org/snomedct/154655004
property_value: closeMatch http://identifiers.org/snomedct/154659005
property_value: closeMatch http://identifiers.org/snomedct/190239004
property_value: closeMatch http://identifiers.org/snomedct/190267008
property_value: closeMatch http://identifiers.org/snomedct/267373004
property_value: closeMatch http://identifiers.org/snomedct/267464006
property_value: closeMatch http://identifiers.org/snomedct/286909009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018213
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848795
property_value: exactMatch DOID:7997
property_value: exactMatch http://identifiers.org/mesh/D013971
property_value: exactMatch http://identifiers.org/omim/275000
property_value: exactMatch http://identifiers.org/snomedct/90739004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040156
property_value: exactMatch NCIT:C61469

[Term]
id: MONDO:0010139
name: isolated thyroid-stimulating hormone deficiency
def: "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." [Orphanet:90674]
subset: ordo_disease {source="Orphanet:90674"}
synonym: "CHNG4" EXACT [DOID:0070123, MONDO:Lexical, OMIM:275100]
synonym: "congenital nongoitrous hypothryoidism 4" RELATED [DOID:0070123]
synonym: "congenital nongoitrous hypothyroidism 4" RELATED [DOID:0070123]
synonym: "hypothyroidism, congenital, nongoitrous, 4" RELATED [MONDO:Lexical, OMIM:275100]
synonym: "hypothyroidism, congenital, nongoitrous, 4; CHNG4" RELATED [OMIM:275100]
synonym: "hypothyroidism, congenital, nongoitrous, type 4" EXACT [MONDORULE:1, OMIM:275100]
synonym: "isolated thyrotropin deficiency" EXACT [DOID:0070123, Orphanet:90674]
synonym: "isolated TSH deficiency" EXACT [Orphanet:90674]
synonym: "pituitary cretinism" RELATED DEPRECATED [OMIM:275100]
synonym: "thyroid-stimulating hormone deficiency" RELATED [OMIM:275100]
synonym: "thyroid-stimulating hormone, deficiency of" RELATED [GARD:0010129]
synonym: "thyrotropin deficiency, isolated" RELATED [OMIM:275100]
synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100]
synonym: "TSH deficiency" RELATED [OMIM:275100]
xref: DOID:0070123 {source="MONDO:equivalentTo"}
xref: GARD:0010129 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E03.1 {source="DOID:0070123", source="ORDO:90674/attributed", source="ORDO:90674/ntbt", source="Orphanet:90674"}
xref: OMIM:275100 {source="ORDO:90674/e", source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674"}
xref: Orphanet:90674 {source="MONDO:equivalentTo", source="OMIM:275100"}
xref: UMLS:C0271789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275100", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4082174 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000045 {source="DC-OMIM:275100", source="OMIM:275100"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0016410 {source="Orphanet:90674"} ! central congenital hypothyroidism
is_a: MONDO:0019824 {source="Orphanet:90674"} ! non-acquired pituitary hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848794
property_value: exactMatch DOID:0070123
property_value: exactMatch http://identifiers.org/omim/275100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082174
property_value: exactMatch Orphanet:90674

[Term]
id: MONDO:0010140
name: isolated thyrotropin-releasing hormone deficiency
def: "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." [NCIT:C121741]
subset: ordo_disease {source="Orphanet:238670"}
synonym: "hypothalamic hypothyroidism" RELATED [OMIM:275120]
synonym: "isolated prothyroliberin deficiency" EXACT [Orphanet:238670]
synonym: "isolated protirelin deficiency" EXACT [Orphanet:238670]
synonym: "isolated thyroliberin deficiency" EXACT [Orphanet:238670]
synonym: "isolated thyrotropin-releasing factor deficiency" EXACT [Orphanet:238670]
synonym: "isolated TRF deficiency" EXACT [Orphanet:238670]
synonym: "isolated TRH deficiency" EXACT [Orphanet:238670]
synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670]
synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741]
synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120]
synonym: "TRH deficiency" RELATED [OMIM:275120]
xref: ICD10:E03.1 {source="ORDO:238670/attributed", source="ORDO:238670/ntbt", source="Orphanet:238670"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C121741 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
xref: OMIM:275120 {source="MONDO:equivalentTo", source="ORDO:238670/e", source="Orphanet:238670"}
xref: Orphanet:238670 {source="MONDO:equivalentTo", source="OMIM:275120"}
xref: SCTID:10736002 {source="MONDO:kboom-pr-0.91/0.82/0.15", source="MONDO:equivalentTo"}
is_a: MONDO:0016410 {source="NCIT:C121741", source="Orphanet:238670"} ! central congenital hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220998
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1421143
property_value: exactMatch http://identifiers.org/omim/275120
property_value: exactMatch http://identifiers.org/snomedct/10736002
property_value: exactMatch NCIT:C121741
property_value: exactMatch Orphanet:238670

[Term]
id: MONDO:0010141
name: tiglic acidemia
subset: gard_rare {source="GARD:0009958"}
synonym: "disorder of isoleucine metabolism" RELATED [GARD:0009958]
synonym: "tiglic acidemia" EXACT [OMIM:275190]
xref: GARD:0009958 {source="MONDO:equivalentTo"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275190 {source="MONDO:equivalentTo"}
xref: SCTID:444755001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
xref: UMLS:C1848793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275190"}
is_a: MONDO:0003847 {source="MESH:C536921/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536921
property_value: exactMatch http://identifiers.org/omim/275190
property_value: exactMatch http://identifiers.org/snomedct/444755001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848793
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia xsd:anyURI {source="GARD:0009958"}

[Term]
id: MONDO:0010142
name: hypothyroidism due to TSH receptor mutations
def: "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." [Orphanet:90673]
subset: ordo_disease {source="Orphanet:90673"}
synonym: "CHNG1" EXACT [DOID:0070126, MONDO:Lexical, OMIM:275200]
synonym: "congenital nongoitrous hypothryoidism 1" RELATED [DOID:0070126]
synonym: "congenital nongoitrous hypothyroidism 1" RELATED [DOID:0070126]
synonym: "hypothyroidism due to unresponsiveness to thyrotropin" RELATED [OMIM:275200]
synonym: "hypothyroidism, congenital, due to TSH resistance" RELATED [OMIM:275200]
synonym: "hypothyroidism, congenital, nongoitrous, 1" RELATED [MONDO:Lexical, OMIM:275200]
synonym: "hypothyroidism, congenital, nongoitrous, 1; CHNG1" RELATED [OMIM:275200]
synonym: "hypothyroidism, congenital, nongoitrous, type 1" EXACT [MONDORULE:1, OMIM:275200]
synonym: "hypothyroidism, Nonautoimmune" RELATED [OMIM:275200]
synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200]
synonym: "thyrotropin resistance" RELATED [OMIM:275200]
synonym: "TSH resistance" EXACT [DOID:0070126]
xref: DOID:0070126 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="DOID:0070126", source="ORDO:90673/attributed", source="ORDO:90673/ntbt", source="Orphanet:90673"}
xref: OMIM:275200 {source="ORDO:90673/e", source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673"}
xref: Orphanet:90673 {source="MONDO:equivalentTo", source="OMIM:275200"}
xref: UMLS:C3493776 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275200"}
xref: UMLS:CN206435 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000045 {source="DC-OMIM:275200", source="OMIM:275200"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0019856 {source="Orphanet:90673"} ! primary congenital hypothyroidism without thyroid developmental anomaly
property_value: exactMatch DOID:0070126
property_value: exactMatch http://identifiers.org/omim/275200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3493776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206435
property_value: exactMatch Orphanet:90673

[Term]
id: MONDO:0010143
name: lethal restrictive dermopathy
def: "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities." [Orphanet:1662]
subset: ordo_disease {source="Orphanet:1662"}
synonym: "fetal hypokinesia sequence due to restrictive dermopathy" RELATED [OMIM:275210]
synonym: "hyperkeratosis-contracture syndrome" EXACT [DOID:0060762, OMIM:275210, Orphanet:1662]
synonym: "lethal restrictive dermopathy" EXACT [DOID:0060762, Orphanet:1662]
synonym: "restrictive dermopathy" RELATED [Orphanet:1662]
synonym: "restrictive dermopathy, lethal" RELATED [OMIM:275210]
synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662]
synonym: "tight skin contracture syndrome, lethal" RELATED [OMIM:275210]
xref: DOID:0060762 {source="MONDO:equivalentTo"}
xref: GARD:0001516 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:1662", source="DOID:0060762", source="ORDO:1662/attributed", source="ORDO:1662/ntbt"}
xref: MESH:C536920 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275210 {source="Orphanet:1662", source="ORDO:1662/e", source="DOID:0060762", source="MONDO:equivalentTo"}
xref: Orphanet:1662 {source="DOID:0060762", source="MONDO:equivalentTo", source="OMIM:275210"}
xref: SCTID:400128006 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C0406585 {source="Orphanet:1662", source="MEDGEN:kboom-pr97-c99", source="ORDO:1662/e", source="DOID:0060762", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275210"}
is_a: MONDO:0015331 {source="Orphanet:1662"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1662"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060762
property_value: exactMatch http://identifiers.org/mesh/C536920
property_value: exactMatch http://identifiers.org/omim/275210
property_value: exactMatch http://identifiers.org/snomedct/400128006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406585
property_value: exactMatch Orphanet:1662

[Term]
id: MONDO:0010144
name: tibial hemimelia
def: "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." [Orphanet:93322]
subset: ordo_morphological_anomaly {source="Orphanet:93322"}
synonym: "absence of tibia" RELATED [GARD:0008707]
synonym: "bilateral absence of the tibia" RELATED [GARD:0008707]
synonym: "congenital absence of tibia" EXACT [Orphanet:93322]
synonym: "congenital aplasia and dysplasia of the tibia with intact fibula" EXACT [Orphanet:93322]
synonym: "congenital longitudinal deficiency of the tibia" EXACT [Orphanet:93322]
synonym: "Thm" RELATED [OMIM:275220]
synonym: "tibia, absence of" RELATED [OMIM:275220]
synonym: "tibial hemimelia" EXACT [OMIM:275220]
synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322]
xref: GARD:0008707 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q72.5 {source="ORDO:93322/specific", source="ORDO:93322/e", source="Orphanet:93322"}
xref: MESH:C535563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275220 {source="ORDO:93322/e", source="Orphanet:93322", source="MONDO:equivalentTo"}
xref: Orphanet:93322 {source="MONDO:equivalentTo", source="OMIM:275220"}
xref: SCTID:79177001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016240 {source="Orphanet:93322"} ! hemimelia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265633
property_value: exactMatch http://identifiers.org/mesh/C535563
property_value: exactMatch http://identifiers.org/omim/275220
property_value: exactMatch http://identifiers.org/snomedct/79177001
property_value: exactMatch Orphanet:93322

[Term]
id: MONDO:0010145
name: tibia, absence of, with congenital deafness
synonym: "tibia, absence of, with congenital deafness" EXACT [OMIM:275230]
xref: MESH:C564764 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275230 {source="MONDO:equivalentTo"}
xref: UMLS:C1848758 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275230"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564764
property_value: exactMatch http://identifiers.org/omim/275230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848758

[Term]
id: MONDO:0010146
name: Kerion celsi
def: "fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." [Orphanet:499]
subset: gard_rare {source="GARD:0003109"}
subset: ordo_disease {source="Orphanet:499"}
synonym: "susceptibility to Tinea imbricata" RELATED [GARD:0003109]
synonym: "Tinea capitis profunda" RELATED [GARD:0003109]
synonym: "TINEA imbricata, susceptibility to" RELATED [OMIM:275240]
synonym: "trichophytia profunda barbae" RELATED [GARD:0003109]
synonym: "trichophytia profunda capitis" RELATED [GARD:0003109]
synonym: "Trichophyton infection" RELATED [GARD:0003109]
xref: GARD:0003109 {source="MONDO:equivalentTo"}
xref: ICD10:B35.0 {source="Orphanet:499", source="ORDO:499/ntbt"}
xref: OMIM:275240 {source="MONDO:equivalentTo"}
xref: Orphanet:499 {source="MONDO:equivalentTo"}
xref: SCTID:19087001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.19"}
xref: UMLS:C0276742 {source="Orphanet:499", source="OMIM:275240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:499/e"}
is_a: MONDO:0019546 {source="Orphanet:499"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/mesh/C536165
property_value: exactMatch http://identifiers.org/omim/275240
property_value: exactMatch http://identifiers.org/snomedct/19087001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276742
property_value: exactMatch Orphanet:499
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi xsd:anyURI {source="GARD:0003109"}

[Term]
id: MONDO:0010147
name: tongue, pigmented fungiform papillae of
synonym: "tongue, pigmented fungiform papillae of" EXACT [OMIM:275250]
xref: OMIM:275250 {source="MONDO:equivalentTo"}
xref: UMLS:C1848756 {source="NCBI:mim2gene_medline", source="OMIM:275250", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/275250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848756

[Term]
id: MONDO:0010148
name: Mounier-Kuhn syndrome
def: "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." [Orphanet:3347]
subset: ordo_clinical_syndrome {source="Orphanet:3347"}
synonym: "congenital tracheobronchomegaly" EXACT [Orphanet:3347]
synonym: "idiopathic tracheobronchomegaly" EXACT [Orphanet:3347]
synonym: "Mounier Kuhn syndrome" RELATED [GARD:0003793]
synonym: "Mounier-Kuhn syndrome" EXACT [NCIT:C85196]
synonym: "Mounier-Kühn syndrome" RELATED [Orphanet:3347]
synonym: "tracheobronchomegaly" EXACT [OMIM:275300, Orphanet:3347]
xref: GARD:0003793 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:0005234 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:J98.0 {source="Orphanet:3347", source="ORDO:3347/ntbt"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044316 {source="Orphanet:3347", source="ORDO:3347/e"}
xref: MESH:D014137 {source="Orphanet:3347", source="ORDO:3347/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85196 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:275300 {source="Orphanet:3347", source="ORDO:3347/e", source="MONDO:equivalentTo"}
xref: Orphanet:3347 {source="MONDO:equivalentTo", source="OMIM:275300"}
xref: SCTID:57451009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0040587 {source="Orphanet:3347", source="NCBI:mim2gene_medline", source="ORDO:3347/e", source="MONDO:equivalentTo", source="NCIT:C85196", source="OMIM:275300"}
xref: UMLS:C2713583 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:3347", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:3347"} ! respiratory system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020000"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10044316
property_value: exactMatch http://identifiers.org/mesh/D014137
property_value: exactMatch http://identifiers.org/omim/275300
property_value: exactMatch http://identifiers.org/snomedct/57451009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713583
property_value: exactMatch NCIT:C85196
property_value: exactMatch Orphanet:3347

[Term]
id: MONDO:0010149
name: transcobalamin II deficiency
def: "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." [Orphanet:859]
subset: ordo_disease {source="Orphanet:859"}
synonym: "inherited deficiency of transcobalamin" EXACT [Orphanet:859]
synonym: "TC 2 deficiency" RELATED [OMIM:275350]
synonym: "TCN2 deficiency" EXACT [DOID:0050818]
synonym: "Tcn2 deficiency" RELATED [OMIM:275350]
synonym: "transcobalamin 2 deficiency" RELATED [OMIM:275350]
synonym: "transcobalamin deficiency" RELATED [Orphanet:859]
synonym: "transcobalamin II deficiency" EXACT [OMIM:275350, Orphanet:859]
xref: DOID:0050818 {source="MONDO:equivalentTo"}
xref: GARD:0012338 {source="MONDO:equivalentTo"}
xref: ICD10:D51.2 {source="MONDO:equivalentTo", source="ORDO:859/attributed", source="ORDO:859/ntbt", source="Orphanet:859"}
xref: NCIT:C142806 {source="MONDO:equivalentTo"}
xref: OMIM:275350 {source="ORDO:859/e", source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818"}
xref: Orphanet:859 {source="OMIM:275350", source="MONDO:equivalentTo"}
xref: SCTID:237934001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342701 {source="ORDO:859/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:859"}
is_a: MONDO:0018035 {source="Orphanet:859"} ! syndrome with combined immunodeficiency
is_a: MONDO:0019220 {source="Orphanet:859"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0020109 {source="Orphanet:859"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1420653
property_value: exactMatch DOID:0050818
property_value: exactMatch http://identifiers.org/omim/275350
property_value: exactMatch http://identifiers.org/snomedct/237934001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342701
property_value: exactMatch NCIT:C142806
property_value: exactMatch Orphanet:859

[Term]
id: MONDO:0010150
name: head and neck squamous cell carcinoma
def: "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." [NCIT:C34447]
subset: ordo_disease {source="Orphanet:67037"}
synonym: "carcinoma of the head and neck" NARROW [DOID:5520, NCIT:C35850]
synonym: "craniocervical region squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "head and neck squamous cell carcinoma" EXACT [NCIT:C34447, Orphanet:67037]
synonym: "head and neck squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C34447]
synonym: "HNSCC" EXACT [MONDO:Lexical, OMIM:275355, Orphanet:67037]
synonym: "SCCHN" EXACT [NCIT:C34447]
synonym: "squamous cell carcinoma of head and neck" EXACT [NCIT:C34447]
synonym: "squamous cell carcinoma of the head and neck" EXACT [DOID:5520, NCIT:C34447]
synonym: "squamous cell carcinoma, head and neck" RELATED [MONDO:Lexical, OMIM:275355]
synonym: "squamous cell carcinoma, head and neck; HNSCC" RELATED [OMIM:275355]
synonym: "squamous cell carcinomas of head and neck" EXACT [DOID:5520]
xref: DOID:5520 {source="MONDO:equivalentTo", source="EFO:0000181"}
xref: EFO:0000181 {source="MONDO:equivalentTo"}
xref: MedDRA:10060121 {source="ORDO:67037/e", source="Orphanet:67037"}
xref: MESH:C535575 {source="DOID:5520", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:67037/e", source="Orphanet:67037"}
xref: NCIT:C34447 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181"}
xref: OMIM:275355 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181", source="ORDO:67037/e", source="Orphanet:67037"}
xref: ONCOTREE:HNSC {source="MONDO:equivalentTo"}
xref: Orphanet:67037 {source="MONDO:equivalentTo", source="OMIM:275355"}
xref: SCTID:716659002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1168401 {source="DOID:5520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275355", source="NCIT:C34447", source="ORDO:67037/e", source="Orphanet:67037"}
is_a: MONDO:0002038 {source="DOID:5520", source="MONDO:Redundant", source="MONDOLEX:0010150", source="NCIT:C34447"} ! head and neck carcinoma
is_a: MONDO:0005096 {source="DOID:5520", source="EFO:0000181", source="MESH:C535575", source="MONDO:Redundant", source="MONDOLEX:0010150", source="NCIT:C34447", source="linkedlifedata"} ! squamous cell carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0017371"} ! rare
property_value: exactMatch DOID:5520
property_value: exactMatch http://identifiers.org/meddra/10060121
property_value: exactMatch http://identifiers.org/mesh/C535575
property_value: exactMatch http://identifiers.org/omim/275355
property_value: exactMatch http://identifiers.org/snomedct/716659002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168401
property_value: exactMatch NCIT:C34447
property_value: exactMatch Orphanet:67037

[Term]
id: MONDO:0010151
name: tricarboxylic acid cycle, defect of
synonym: "tricarboxylic acid cycle, defect of" EXACT [OMIM:275370]
xref: MESH:C564762 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275370 {source="MONDO:equivalentTo"}
xref: UMLS:C1848746 {source="OMIM:275370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016790 ! tricarboxylic acid cycle disorder
property_value: exactMatch http://identifiers.org/mesh/C564762
property_value: exactMatch http://identifiers.org/omim/275370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848746

[Term]
id: MONDO:0010152
name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome
def: "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." [Orphanet:3363]
subset: ordo_malformation_syndrome {source="Orphanet:3363"}
synonym: "eyelashes, long with intellectual disability" RELATED [GARD:0005266]
synonym: "eyelashes, long, with mental retardation" RELATED [OMIM:275400]
synonym: "long eyelashes-intellectual disability syndrome" EXACT [Orphanet:3363]
synonym: "Oliver McFarlane syndrome" RELATED [GARD:0005266]
synonym: "Oliver-McFarlane syndrome" EXACT [MONDO:Lexical, OMIM:275400, Orphanet:3363]
synonym: "Oliver-McFarlane syndrome; OMCS" RELATED [OMIM:275400]
synonym: "OMCS" RELATED [MONDO:Lexical, OMIM:275400]
synonym: "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina" RELATED [GARD:0005266]
synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED [OMIM:275400]
xref: GARD:0005266 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536554 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275400 {source="MONDO:equivalentTo", source="Orphanet:3363", source="ORDO:3363/e"}
xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"}
xref: SCTID:719944006 {source="MONDO:equivalentTo"}
xref: UMLS:C1848745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275400", source="Orphanet:3363"}
is_a: MONDO:0019287 {source="Orphanet:3363"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536554
property_value: exactMatch http://identifiers.org/omim/275400
property_value: exactMatch http://identifiers.org/snomedct/719944006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848745
property_value: exactMatch Orphanet:3363

[Term]
id: MONDO:0010153
name: trichoodontoonychial dysplasia
def: "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." [Orphanet:3355]
subset: gard_rare {source="GARD:0005267"}
subset: ordo_malformation_syndrome {source="Orphanet:3355"}
synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275450]
synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355]
xref: GARD:0005267 {source="MONDO:equivalentTo"}
xref: MESH:C564760 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275450 {source="ORDO:3355/e", source="Orphanet:3355", source="MONDO:equivalentTo"}
xref: Orphanet:3355 {source="MONDO:equivalentTo", source="OMIM:275450"}
xref: SCTID:766813000 {source="MONDO:equivalentTo"}
xref: UMLS:C3502453 {source="Orphanet:3355", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:3355"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C564760", source="Orphanet:3355"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848744
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279457
property_value: exactMatch http://identifiers.org/mesh/C564760
property_value: exactMatch http://identifiers.org/omim/275450
property_value: exactMatch http://identifiers.org/snomedct/766813000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502453
property_value: exactMatch Orphanet:3355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia xsd:anyURI {source="GARD:0005267"}

[Term]
id: MONDO:0010154
name: trigonocephaly-bifid nose-acral anomalies syndrome
def: "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." [Orphanet:3368]
subset: ordo_malformation_syndrome {source="Orphanet:3368"}
synonym: "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia" RELATED [GARD:0005126]
synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [OMIM:275595]
synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126]
xref: GARD:0005126 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: GARD:0005277 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:3368", source="ORDO:3368/attributed", source="ORDO:3368/ntbt"}
xref: MESH:C564759 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275595 {source="ORDO:3368/e", source="Orphanet:3368", source="MONDO:equivalentTo"}
xref: Orphanet:3368 {source="MONDO:equivalentTo", source="OMIM:275595"}
xref: UMLS:C1848743 {source="NCBI:mim2gene_medline", source="Orphanet:3368", source="MONDO:equivalentTo", source="OMIM:275595"}
is_a: MONDO:0043008 {source="Orphanet:3368"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564759
property_value: exactMatch http://identifiers.org/omim/275595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848743
property_value: exactMatch Orphanet:3368

[Term]
id: MONDO:0010155
name: Dorfman-Chanarin disease
subset: ordo_disease {source="Orphanet:98907"}
synonym: "CDS" RELATED [MONDO:Lexical, OMIM:275630]
synonym: "Chanarin-Dorfman disease" RELATED [OMIM:275630]
synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729]
synonym: "Chanarin-Dorfman syndrome" RELATED [MONDO:Lexical, OMIM:275630]
synonym: "Chanarin-Dorfman syndrome; CDS" RELATED [OMIM:275630]
synonym: "DCs" RELATED [GARD:0003979]
synonym: "disorder of cornification 12 (neutral lipid storage type)" RELATED [GARD:0003979]
synonym: "Dorfman Chanarin syndrome" RELATED [GARD:0003979]
synonym: "Dorfman-Chanarin syndrome" RELATED [OMIM:275630]
synonym: "ichthyosiform erythroderma with leukocyte vacuolation" RELATED [OMIM:275630]
synonym: "ichthyotic neutral Lipid storage disease" RELATED [OMIM:275630]
synonym: "neutral Lipid storage disease with ichthyosis" RELATED [OMIM:275630]
synonym: "neutral lipid storage disease with ichthyosis" EXACT [Orphanet:98907]
synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979]
synonym: "NLSDI" EXACT [Orphanet:98907]
synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630]
xref: GARD:0003979 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.5 {source="ORDO:98907/attributed", source="ORDO:98907/ntbt", source="Orphanet:98907"}
xref: OMIM:275630 {source="MONDO:equivalentTo", source="ORDO:98907/e", source="Orphanet:98907", source="DOID:0050729"}
xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"}
xref: SCTID:19604005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015611 {source="MONDOLEX:0010155", source="Orphanet:98907"} ! neutral lipid storage disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017274 {source="Orphanet:98907"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0020269 {source="Orphanet:98907"} ! syndromic ichthyosis associated with ocular features
property_value: exactMatch http://identifiers.org/omim/275630
property_value: exactMatch http://identifiers.org/snomedct/19604005
property_value: exactMatch Orphanet:98907

[Term]
id: MONDO:0010156
name: Troyer syndrome
def: "gene (13q13.1), which encodes the protein spartin." [Orphanet:101000]
subset: gard_rare {source="GARD:0005372"}
subset: ordo_disease {source="Orphanet:101000"}
synonym: "autosomal recessive spastic paraplegia 20" EXACT [DOID:0050886]
synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [DOID:0050886]
synonym: "autosomal recessive spastic paraplegia type 20" EXACT [DOID:0050886]
synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [DOID:0050886]
synonym: "childhood-onset spastic paraparesis-distal muscle wasting syndrome" EXACT [Orphanet:101000]
synonym: "Cross-McKusick syndrome" RELATED [GARD:0005372]
synonym: "hereditary spastic paraplegia 20" EXACT [DOID:0050886]
synonym: "spastic paraparesis, childhood-onset, with distal muscle wasting" RELATED [OMIM:275900]
synonym: "spastic paraplegia 20" RELATED [GARD:0005372]
synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [DOID:0050886]
synonym: "spastic paraplegia 20, autosomal recessive" RELATED [GARD:0005372, MONDO:Lexical, OMIM:275900]
synonym: "spastic paraplegia 20, autosomal recessive; SPG20" RELATED [OMIM:275900]
synonym: "spastic paraplegia type 20" EXACT [DOID:0050886]
synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [OMIM:275900]
synonym: "SPG20" EXACT [DOID:0050886, MONDO:Lexical, OMIM:275900, Orphanet:101000]
synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000]
xref: DOID:0050886 {source="MONDO:equivalentTo"}
xref: GARD:0005372 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:101000", source="DOID:0050886", source="ORDO:101000/attributed", source="ORDO:101000/ntbt"}
xref: ICD9:335.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:275900 {source="Orphanet:101000", source="MONDO:equivalentTo", source="DOID:0050886", source="ORDO:101000/e"}
xref: Orphanet:101000 {source="OMIM:275900", source="MONDO:equivalentTo", source="DOID:0050886"}
xref: SCTID:230264003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0393559 {source="OMIM:275900", source="Orphanet:101000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:101000"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0050886
property_value: exactMatch http://identifiers.org/mesh/C536858
property_value: exactMatch http://identifiers.org/omim/275900
property_value: exactMatch http://identifiers.org/snomedct/230264003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393559
property_value: exactMatch Orphanet:101000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome xsd:anyURI {source="GARD:0005372"}

[Term]
id: MONDO:0010157
name: Tryptophanuria with dwarfism
subset: gard_rare {source="GARD:0004268"}
synonym: "Tryptophanuria with dwarfism" EXACT [OMIM:276100]
xref: GARD:0004268 {source="MONDO:equivalentTo"}
xref: ICD9:259.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562658 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276100 {source="MONDO:equivalentTo"}
xref: SCTID:12045002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0268473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276100"}
is_a: MONDO:0003847 {source="MESH:C562658/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562658
property_value: exactMatch http://identifiers.org/omim/276100
property_value: exactMatch http://identifiers.org/snomedct/12045002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268473
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism xsd:anyURI {source="GARD:0004268"}

[Term]
id: MONDO:0010158
name: T-substance anomaly
synonym: "T-substance anomaly" EXACT [OMIM:276200]
xref: OMIM:276200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848724
property_value: exactMatch http://identifiers.org/omim/276200

[Term]
id: MONDO:0010159
name: constitutional mismatch repair deficiency syndrome
def: "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." [NCIT:P378]
subset: ordo_disease {source="Orphanet:252202"}
synonym: "brain tumor-polyposis syndrome" RELATED [GARD:0000420]
synonym: "brain tumor-polyposis syndrome 1" RELATED [OMIM:276300]
synonym: "Btp1 syndrome" RELATED [OMIM:276300]
synonym: "childhood cancer syndrome" RELATED [OMIM:276300]
synonym: "CMMR-D" EXACT [NCIT:C130202]
synonym: "CMMR-D syndrome" EXACT [Orphanet:252202]
synonym: "CNS tumors with familial polyposis of the colon" RELATED [GARD:0000420]
synonym: "constitutional MIS-match repair deficiency syndrome" EXACT [NCIT:C130202]
synonym: "constitutional mismatch repair deficiency syndrome" EXACT [NCIT:C130202, OMIM:276300]
synonym: "glioma-polyposis syndrome" RELATED [GARD:0000420]
synonym: "malignant tumors of the central nervous system associated with familial polyposis of the colon" RELATED [GARD:0000420]
synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical, OMIM:276300]
synonym: "mismatch repair cancer syndrome; MMRCS" RELATED [OMIM:276300]
synonym: "mismatch repair deficiency" RELATED [OMIM:276300]
synonym: "MMR deficiency" RELATED [OMIM:276300]
synonym: "MMRCS" RELATED [MONDO:Lexical, OMIM:276300]
synonym: "Turcot syndrome" RELATED [OMIM:276300]
xref: GARD:0000420 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536928 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C130202 {source="MONDO:equivalentTo", source="kboom:pr0.78-conf2.39"}
xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="ORDO:252202/e"}
xref: Orphanet:252202 {source="MONDO:equivalentTo", source="OMIM:276300"}
xref: SCTID:61665008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.58"}
xref: UMLS:C0265325 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276300"}
xref: UMLS:C4321324 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016756 {source="Orphanet:252202"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021190 {source="https://github.com/monarch-initiative/mondo/issues/1583"} ! DNA repair disease
relationship: excluded_subClassOf MONDO:0018040 {source="Orphanet:252202", source="https://github.com/monarch-initiative/mondo/issues/1583"} ! immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
property_value: closeMatch Orphanet:99817
property_value: exactMatch http://identifiers.org/mesh/C536928
property_value: exactMatch http://identifiers.org/omim/276300
property_value: exactMatch http://identifiers.org/snomedct/61665008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4321324
property_value: exactMatch NCIT:C130202
property_value: exactMatch Orphanet:252202

[Term]
id: MONDO:0010160
name: tyrosinemia type II
def: "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." [Orphanet:28378]
subset: gard_rare {source="GARD:0003105"}
subset: ordo_disease {source="Orphanet:28378"}
synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [OMIM:276600]
synonym: "keratosis palmoplantaris-corneal dystrophy syndrome" EXACT [Orphanet:28378]
synonym: "oculocutaneous tyrosinemia" EXACT [DOID:0050725, Orphanet:28378]
synonym: "Oregon type tyrosinemia" RELATED [OMIM:276600]
synonym: "Richner Hanhart syndrome" RELATED [GARD:0003105]
synonym: "Richner-Hanhart syndrome" EXACT [DOID:0050725, OMIM:276600, Orphanet:28378]
synonym: "Tat deficiency" RELATED [OMIM:276600]
synonym: "tyrosine aminotransferase deficiency" RELATED [OMIM:276600]
synonym: "tyrosine transaminase deficiency" RELATED [OMIM:276600]
synonym: "tyrosinemia due to TAT deficiency" EXACT [Orphanet:28378]
synonym: "tyrosinemia due to tyrosine aminotransferase deficiency" EXACT [Orphanet:28378]
synonym: "tyrosinemia type 2" RELATED [GARD:0003105]
synonym: "tyrosinemia type II" EXACT [Orphanet:28378]
synonym: "tyrosinemia, type 2" RELATED [OMIM:276600]
synonym: "tyrosinemia, type II" RELATED [MONDO:Lexical, OMIM:276600]
synonym: "tyrosinemia, type II; TYRSN2" RELATED [OMIM:276600]
synonym: "Tyrosinosis oculocutaneous type" RELATED [GARD:0003105]
synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600]
synonym: "TYRSN2" RELATED [MONDO:Lexical, OMIM:276600]
xref: DOID:0050725 {source="MONDO:equivalentTo"}
xref: GARD:0003105 {source="MONDO:equivalentTo"}
xref: ICD10:E70.2 {source="ORDO:28378/ntbt", source="Orphanet:28378", source="ORDO:28378/inclusion"}
xref: MedDRA:10069463 {source="ORDO:28378/e", source="Orphanet:28378"}
xref: NCIT:C129032 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:276600 {source="MONDO:equivalentTo", source="ORDO:28378/e", source="DOID:0050725", source="Orphanet:28378"}
xref: Orphanet:28378 {source="MONDO:equivalentTo", source="OMIM:276600"}
xref: SCTID:4887000 {source="MONDO:equivalentTo"}
is_a: MONDO:0004741 {source="DC-OMIM:276600", source="DOID:0050725", source="NCIT:C129032", source="OMIM:276600"} ! tyrosinemia
is_a: MONDO:0020097 {source="Orphanet:28378"} ! autosomal recessive disease with focal palmoplantar keratoderma as a major feature
is_a: MONDO:0020269 {source="Orphanet:28378"} ! syndromic ichthyosis associated with ocular features
is_a: MONDO:0020279 {source="Orphanet:28378"} ! metabolic disease with corneal opacity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268487
property_value: exactMatch DOID:0050725
property_value: exactMatch http://identifiers.org/meddra/10069463
property_value: exactMatch http://identifiers.org/omim/276600
property_value: exactMatch http://identifiers.org/snomedct/4887000
property_value: exactMatch NCIT:C129032
property_value: exactMatch Orphanet:28378
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 xsd:anyURI {source="GARD:0003105"}

[Term]
id: MONDO:0010161
name: tyrosinemia type I
def: "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." [Orphanet:882]
subset: gard_rare {source="GARD:0002658"}
subset: ordo_disease {source="Orphanet:882"}
synonym: "FAH deficiency" EXACT [Orphanet:882]
synonym: "Fah deficiency" RELATED [OMIM:276700]
synonym: "fumarylacetoacetase deficiency" EXACT [OMIM:276700, Orphanet:882]
synonym: "fumarylacetoacetate hydrolase deficiency" EXACT [Orphanet:882]
synonym: "hepatorenal tyrosinemia" EXACT [DOID:0050726, OMIM:276700, Orphanet:882]
synonym: "type I tyrosinemia" EXACT [NCIT:C98641]
synonym: "tyrosinemia type 1" RELATED [GARD:0002658]
synonym: "tyrosinemia type I" EXACT [Orphanet:882]
synonym: "tyrosinemia, type 1" RELATED [OMIM:276700]
synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700]
synonym: "tyrosinemia, type I; TYRSN1" RELATED [OMIM:276700]
synonym: "TYRSN1" RELATED [MONDO:Lexical, OMIM:276700]
xref: DOID:0050726 {source="MONDO:equivalentTo"}
xref: GARD:0002658 {source="MONDO:equivalentTo"}
xref: ICD10:E70.2 {source="ORDO:882/ntbt", source="ORDO:882/inclusion", source="Orphanet:882"}
xref: MedDRA:10069462 {source="ORDO:882/e", source="Orphanet:882"}
xref: NCIT:C98641 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:276700 {source="MONDO:equivalentTo", source="DOID:0050726", source="ORDO:882/e", source="Orphanet:882"}
xref: Orphanet:882 {source="MONDO:equivalentTo", source="OMIM:276700"}
xref: SCTID:410056006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:882/e", source="NCIT:C98641", source="Orphanet:882"}
is_a: MONDO:0004741 {source="DC-OMIM:276700", source="DOID:0050726", source="NCIT:C98641", source="OMIM:276700"} ! tyrosinemia
is_a: MONDO:0015945 {source="Orphanet:882"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016133 {source="Orphanet:882"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0019743 {source="Orphanet:882"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414525
property_value: exactMatch DOID:0050726
property_value: exactMatch http://identifiers.org/meddra/10069462
property_value: exactMatch http://identifiers.org/omim/276700
property_value: exactMatch http://identifiers.org/snomedct/410056006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268490
property_value: exactMatch NCIT:C98641
property_value: exactMatch Orphanet:882
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 xsd:anyURI {source="GARD:0002658"}

[Term]
id: MONDO:0010162
name: tyrosinemia type III
def: "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." [Orphanet:69723]
subset: gard_rare {source="GARD:0010332"}
subset: ordo_disease {source="Orphanet:69723"}
synonym: "4-alpha hydroxyphenylpyruvate dioxygenase deficiency" RELATED [GARD:0010332]
synonym: "4-alpha hydroxyphenylpyruvic acid oxidase deficiency" RELATED [GARD:0010332]
synonym: "4-Hydroxyphenylpyruvate dioxygenase deficiency" RELATED [OMIM:276710]
synonym: "4-Hydroxyphenylpyruvic acid oxidase deficiency" RELATED [OMIM:276710]
synonym: "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia due to HPD deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia type 3" RELATED [GARD:0010332]
synonym: "tyrosinemia type III" EXACT [Orphanet:69723]
synonym: "tyrosinemia, type 3" RELATED [OMIM:276710]
synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710]
synonym: "tyrosinemia, type III; TYRSN3" RELATED [OMIM:276710]
synonym: "TYRSN3" RELATED [MONDO:Lexical, OMIM:276710]
xref: DOID:0050727 {source="MONDO:equivalentTo"}
xref: GARD:0010332 {source="MONDO:equivalentTo"}
xref: ICD10:E70.2 {source="Orphanet:69723", source="ORDO:69723/attributed", source="ORDO:69723/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069461 {source="Orphanet:69723", source="ORDO:69723/e"}
xref: OMIM:276710 {source="Orphanet:69723", source="MONDO:equivalentTo", source="DOID:0050727", source="ORDO:69723/e"}
xref: Orphanet:69723 {source="MONDO:equivalentTo", source="OMIM:276710"}
xref: SCTID:415764005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/1.95"}
xref: UMLS:C0268623 {source="Orphanet:69723", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276710", source="ORDO:69723/e"}
is_a: MONDO:0004741 {source="DC-OMIM:276710", source="DOID:0050727", source="OMIM:276710"} ! tyrosinemia
property_value: exactMatch DOID:0050727
property_value: exactMatch http://identifiers.org/meddra/10069461
property_value: exactMatch http://identifiers.org/omim/276710
property_value: exactMatch http://identifiers.org/snomedct/415764005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268623
property_value: exactMatch Orphanet:69723
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 xsd:anyURI {source="GARD:0010332"}

[Term]
id: MONDO:0010163
name: Tyrosinosis
synonym: "Tyrosinosis" EXACT [OMIM:276800]
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562659 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276800 {source="MONDO:equivalentTo"}
xref: SCTID:57414003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34"}
xref: UMLS:C0268484 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276800"}
is_a: MONDO:0003847 {source="MESH:C562659/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562659
property_value: exactMatch http://identifiers.org/omim/276800
property_value: exactMatch http://identifiers.org/snomedct/57414003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268484

[Term]
id: MONDO:0010164
name: phocomelia, Schinzel type
def: "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." [Orphanet:2879]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2879"}
synonym: "AARRS" RELATED [GARD:0009212]
synonym: "absence of ulna and fibula with severe limb deficiency" RELATED [GARD:0009212]
synonym: "Al Awadi Teebi Farag syndrome" RELATED [GARD:0005124]
synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [Orphanet:2879]
synonym: "Al-Awadi-Raas-Rothschild syndrome" RELATED [GARD:0009212]
synonym: "Al-Awadi/Raas-Rothschild syndrome" RELATED [OMIM:276820]
synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" RELATED [GARD:0009212]
synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [Orphanet:2879]
synonym: "congenital absence of ulna and fibula" EXACT [Orphanet:2879]
synonym: "limb/pelvis-hypoplasia/aplasia syndrome" RELATED [OMIM:276820]
synonym: "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" RELATED [GARD:0005124]
synonym: "Schinzel phocomelia syndrome" RELATED [OMIM:276820]
synonym: "severe limb deficit" EXACT [Orphanet:2879]
synonym: "Teebi Naguib Al Awadi syndrome" RELATED [GARD:0005124]
synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD:0009212]
synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820]
xref: GARD:0005124 {source="MONDO:equivalentTo"}
xref: GARD:0009212 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="ORDO:2879/attributed", source="ORDO:2879/ntbt", source="Orphanet:2879"}
xref: MESH:C535612 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276820 {source="MONDO:equivalentTo", source="ORDO:2879/e", source="Orphanet:2879", source="GARD:0005124"}
xref: Orphanet:2879 {source="MONDO:equivalentTo", source="OMIM:276820"}
xref: SCTID:715522000 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:2879"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2879", source="Orphanet:2879/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848651
property_value: exactMatch http://identifiers.org/mesh/C535612
property_value: exactMatch http://identifiers.org/omim/276820
property_value: exactMatch http://identifiers.org/snomedct/715522000
property_value: exactMatch Orphanet:2879

[Term]
id: MONDO:0010165
name: ulna hypoplasia-intellectual disability syndrome
def: "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." [Orphanet:2249]
subset: ordo_malformation_syndrome {source="Orphanet:2249"}
synonym: "bilateral ulnar hypoplasia and mental retardation" RELATED [GARD:0005398]
synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" RELATED [GARD:0005398]
synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" RELATED [OMIM:276821]
synonym: "ulna hypoplasia with mental retardation" RELATED [GARD:0005398]
synonym: "ulnar hypoplasia with mental retardation" RELATED [OMIM:276821]
xref: GARD:0005398 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="ORDO:2249/attributed", source="ORDO:2249/ntbt", source="Orphanet:2249"}
xref: MESH:C564757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276821 {source="MONDO:equivalentTo", source="Orphanet:2249", source="ORDO:2249/e"}
xref: Orphanet:2249 {source="MONDO:equivalentTo", source="OMIM:276821"}
xref: UMLS:C1848650 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2249", source="OMIM:276821"}
xref: UMLS:C2931370 {source="MONDO:equivalentTo", source="Orphanet:2249", source="ORDO:2249/e"}
is_a: MONDO:0017432 {source="Orphanet:2249"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2249", source="Orphanet:2249/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536934
property_value: exactMatch http://identifiers.org/mesh/C564757
property_value: exactMatch http://identifiers.org/omim/276821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931370
property_value: exactMatch Orphanet:2249

[Term]
id: MONDO:0010166
name: ulnar agenesis and endocardial fibroelastosis
synonym: "ulnar agenesis and endocardial fibroelastosis" EXACT [OMIM:276822]
xref: MESH:C564756 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276822 {source="MONDO:equivalentTo"}
xref: UMLS:C1848649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276822"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564756
property_value: exactMatch http://identifiers.org/omim/276822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848649

[Term]
id: MONDO:0010167
name: urocanic aciduria (disease)
def: "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." [Orphanet:210128]
subset: ordo_disease {source="Orphanet:210128"}
synonym: "encephalopathy due to urocanase deficiency" EXACT [Orphanet:210128]
synonym: "urocanase deficiency" RELATED [MONDO:Lexical, OMIM:276880]
synonym: "urocanase deficiency; UROCD" RELATED [OMIM:276880]
synonym: "urocanic aciduria" EXACT [MONDO:ambiguous]
synonym: "UROCD" RELATED [MONDO:Lexical, OMIM:276880]
xref: GARD:0008539 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0012237 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E70.8 {source="ORDO:210128/attributed", source="ORDO:210128/ntbt", source="Orphanet:210128"}
xref: MESH:C536479 {source="MONDO:equivalentTo"}
xref: OMIM:276880 {source="MONDO:equivalentTo", source="ORDO:210128/e", source="Orphanet:210128"}
xref: Orphanet:210128 {source="MONDO:equivalentTo", source="OMIM:276880"}
xref: SCTID:60952007 {source="MONDO:kboom-pr-1.00/0.80/9.15", source="MONDO:equivalentTo"}
xref: UMLS:C0268514 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276880", source="Orphanet:210128"}
is_a: MONDO:0019058 {source="Orphanet:210128"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019228 {source="Orphanet:210128"} ! inborn disorder of histidine metabolism
property_value: exactMatch http://identifiers.org/mesh/C536479
property_value: exactMatch http://identifiers.org/omim/276880
property_value: exactMatch http://identifiers.org/snomedct/60952007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268514
property_value: exactMatch Orphanet:210128

[Term]
id: MONDO:0010168
name: Usher syndrome type 1
def: "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." [NCIT:C126327]
subset: clingen
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:231169"}
synonym: "retinitis pigmentosa and congenital deafness" RELATED [OMIM:276900]
synonym: "US1" EXACT [DOID:0110826, OMIM:276900]
synonym: "USH1" EXACT [DOID:0110826, MONDO:Lexical, OMIM:276900, Orphanet:231169]
synonym: "USH1A" RELATED [GARD:0005435]
synonym: "Usher syndrome, type 1" RELATED [GARD:0005435, OMIM:276900]
synonym: "Usher syndrome, type 1A" RELATED [GARD:0005435]
synonym: "Usher syndrome, type 1B" RELATED [OMIM:276900]
synonym: "USHER syndrome, type I" RELATED [MONDO:Lexical, OMIM:276900]
synonym: "Usher syndrome, type I, French variety" RELATED [OMIM:276900]
synonym: "Usher syndrome, type I, French variety, formerly" RELATED [OMIM:276900]
synonym: "USHER syndrome, type I; USH1" RELATED [OMIM:276900]
synonym: "Usher syndrome, type Ia" RELATED [OMIM:276900]
synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900]
xref: DOID:0110826 {source="MONDO:equivalentTo"}
xref: GARD:0005435 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0005436 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="ORDO:231169/attributed", source="ORDO:231169/ntbt", source="Orphanet:231169"}
xref: NCIT:C126327 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:276900 {source="GARD:0005436", source="DOID:0110826", source="MONDO:equivalentTo", source="ORDO:231169/btnt", source="Orphanet:231169"}
xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"}
xref: SCTID:232057003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019501 {source="DC-OMIM:276900", source="DOID:0110826", source="NCIT:C126327", source="OMIM:276900", source="Orphanet:231169"} ! Usher syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1568247
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848638
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848639
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848640
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931206
property_value: exactMatch DOID:0110826
property_value: exactMatch http://identifiers.org/omim/276900
property_value: exactMatch http://identifiers.org/snomedct/232057003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339533
property_value: exactMatch NCIT:C126327
property_value: exactMatch Orphanet:231169

[Term]
id: MONDO:0010169
name: Usher syndrome type 2A
def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "US2" RELATED [GARD:0005440]
synonym: "USH2A" EXACT [DOID:0110838, MONDO:Lexical, OMIM:276901]
synonym: "USH2A Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Usher syndrome caused by mutation in USH2A" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type IIA" EXACT [DOID:0110838]
synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901]
synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901]
synonym: "USHER syndrome, type IIA; USH2A" RELATED [OMIM:276901]
xref: DOID:0110838 {source="MONDO:equivalentTo"}
xref: GARD:0005440 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110838"}
xref: MESH:C536490 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:276901 {source="MONDO:equivalentTo", source="DOID:0110838"}
xref: UMLS:C1848634 {source="OMIM:276901", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016484 {source="DOID:0110838", source="MONDOLEX:0010169"} ! Usher syndrome type 2
property_value: exactMatch DOID:0110838
property_value: exactMatch http://identifiers.org/mesh/C536490
property_value: exactMatch http://identifiers.org/omim/276901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848634

[Term]
id: MONDO:0010170
name: Usher syndrome type 3A
def: "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CLRN1 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH3A" EXACT [DOID:0110841, MONDO:Lexical, OMIM:276902]
synonym: "Usher syndrome caused by mutation in CLRN1" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type IIIA" EXACT [DOID:0110841]
synonym: "Usher syndrome, type 3" RELATED [OMIM:276902]
synonym: "Usher syndrome, type 3A" RELATED [OMIM:276902]
synonym: "USHER syndrome, type IIIA" RELATED [MONDO:Lexical, OMIM:276902]
synonym: "USHER syndrome, type IIIA; USH3A" RELATED [OMIM:276902]
xref: DOID:0110841 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110841", source="MONDO:relatedTo"}
xref: OMIM:276902 {source="DOID:0110841", source="MONDO:equivalentTo"}
is_a: MONDO:0016485 {source="DOID:0110841", source="MONDOLEX:0010170"} ! Usher syndrome type 3
property_value: exactMatch DOID:0110841
property_value: exactMatch http://identifiers.org/omim/276902

[Term]
id: MONDO:0010171
name: Usher syndrome type 1C
def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." [OMIM:276904]
subset: gard_rare {source="GARD:0005437"}
synonym: "USH1C" EXACT [DOID:0110830, MONDO:Lexical, OMIM:276904]
synonym: "Usher syndrome type I Acadian variety" EXACT [DOID:0110830]
synonym: "Usher syndrome type IC" EXACT [DOID:0110830]
synonym: "Usher syndrome, Acadian variety" RELATED [GARD:0005437]
synonym: "Usher syndrome, type 1C" RELATED [GARD:0005437]
synonym: "Usher syndrome, type I, Acadian variety" RELATED [OMIM:276904]
synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical, OMIM:276904]
synonym: "USHER syndrome, type IC; USH1C" RELATED [OMIM:276904]
xref: DOID:0110830 {source="MONDO:equivalentTo"}
xref: GARD:0005437 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110830", source="MONDO:relatedTo"}
xref: OMIM:276904 {source="DOID:0110830", source="MONDO:equivalentTo"}
xref: UMLS:C1848604 {source="OMIM:276904", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010168 {source="DOID:0110830", source="MONDOLEX:0010171"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110830
property_value: exactMatch http://identifiers.org/omim/276904
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848604
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c xsd:anyURI {source="GARD:0005437"}

[Term]
id: MONDO:0010172
name: VACTERL with hydrocephalus
def: "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." [Orphanet:3412]
subset: ordo_malformation_syndrome {source="Orphanet:3412"}
synonym: "Sujansky-Leonard syndrome" EXACT [Orphanet:3412]
synonym: "VACTERL association with hydrocephalus" RELATED [OMIM:276950]
synonym: "VACTERL association with hydrocephaly" RELATED [GARD:0000272]
synonym: "VACTERL hydrocephaly" RELATED [GARD:0000272]
synonym: "VACTERL-H" RELATED [OMIM:276950]
synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950]
synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950]
synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272]
xref: GARD:0000272 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3412", source="ORDO:3412/attributed", source="ORDO:3412/ntbt"}
xref: OMIM:276950 {source="ORDO:3412/e", source="Orphanet:3412", source="MONDO:equivalentTo"}
xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"}
xref: UMLS:C1848599 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276950", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3412"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015246 {source="Orphanet:3412", source="indirect"} ! syndromic anorectal malformation
is_a: MONDO:0020119 {source="Orphanet:3412"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: disease_shares_features_of MONDO:0008642 ! VACTERL/vater association
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848600
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749240
property_value: exactMatch http://identifiers.org/omim/276950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848599
property_value: exactMatch Orphanet:3412

[Term]
id: MONDO:0010173
name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1
def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." [Orphanet:247775]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:247775"}
synonym: "congenital absence of the uterus and vagina (CAUV)" RELATED [GARD:0007100]
synonym: "congenital absence of uterus and vagina" EXACT [GARD:0007100, OMIM:277000, Orphanet:247775]
synonym: "genital renal ear syndrome" RELATED [GARD:0007100]
synonym: "Mayer-Rokitansky-KUSTER-Hauser syndrome" RELATED [OMIM:277000]
synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)" RELATED [GARD:0007100]
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 1" RELATED [Orphanet:247775]
synonym: "Mrk anomaly" RELATED [OMIM:277000]
synonym: "MRKH anomaly" RELATED [OMIM:277000]
synonym: "MRKH syndrome" RELATED [GARD:0007100, OMIM:277000]
synonym: "MRKH syndrome type 1" EXACT [Orphanet:247775]
synonym: "Mullerian aplasia/dysgenesis" RELATED [OMIM:277000]
synonym: "Mullerian dysgenesis" RELATED [GARD:0007100]
synonym: "Müllerian agenesis" RELATED [GARD:0007100]
synonym: "Rokitansky sequence" EXACT [Orphanet:247775]
synonym: "Rokitansky syndrome" RELATED [GARD:0007100]
synonym: "urogenital adysplasia" RELATED [OMIM:277000]
synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000]
synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000]
xref: GARD:0007100 {source="MONDO:equivalentTo"}
xref: ICD10:Q51.8 {source="Orphanet:247775", source="ORDO:247775/attributed", source="ORDO:247775/ntbt"}
xref: ICD9:752.49 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:277000 {source="ORDO:247775/e", source="Orphanet:247775", source="MONDO:equivalentTo", source="GARD:0007100"}
xref: Orphanet:247775 {source="OMIM:277000", source="MONDO:equivalentTo"}
xref: SCTID:8793008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0017771 {source="Orphanet:247775"} ! Mayer-Rokitansky-Kuster-Hauser syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431648
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1698581
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674045
property_value: exactMatch http://identifiers.org/omim/277000
property_value: exactMatch http://identifiers.org/snomedct/8793008
property_value: exactMatch Orphanet:247775
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia xsd:anyURI {source="GARD:0007100"}

[Term]
id: MONDO:0010174
name: Valinemia
def: "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive . In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." [https://rarediseases.info.nih.gov/diseases/7845/valinemia]
subset: gard_rare {source="GARD:0007845"}
synonym: "hypervalinemia" RELATED [OMIM:277100]
synonym: "valine transaminase deficiency" RELATED [OMIM:277100]
synonym: "Valinemia" EXACT [OMIM:277100]
xref: GARD:0007845 {source="MONDO:equivalentTo"}
xref: MESH:C536524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277100 {source="MONDO:equivalentTo"}
xref: SCTID:47719001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0268573 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277100"}
is_a: MONDO:0003847 {source="MESH:C536524/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536524
property_value: exactMatch http://identifiers.org/omim/277100
property_value: exactMatch http://identifiers.org/snomedct/47719001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268573
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7845/valinemia xsd:anyURI {source="GARD:0007845"}

[Term]
id: MONDO:0010175
name: van Bogaert-Hozay syndrome
subset: gard_rare {source="GARD:0008415"}
synonym: "A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects" RELATED [GARD:0008415]
synonym: "acro-osteolysis-facial dysplasia syndrome" RELATED [GARD:0008415]
synonym: "Hozay's syndrome" RELATED [GARD:0008415]
synonym: "Hozay’s syndrome" RELATED [GARD:0008415]
synonym: "van Bogaert-Hozay syndrome" EXACT [OMIM:277150]
xref: GARD:0008415 {source="MONDO:equivalentTo"}
xref: MESH:C536526 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277150 {source="MONDO:equivalentTo"}
xref: UMLS:C1848598 {source="OMIM:277150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536526
property_value: exactMatch http://identifiers.org/omim/277150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848598
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome xsd:anyURI {source="GARD:0008415"}

[Term]
id: MONDO:0010176
name: orofaciodigital syndrome type 6
def: "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." [Orphanet:2754]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2754"}
synonym: "Joubert syndrome with oral-facial-digital syndrome" EXACT [Orphanet:2754]
synonym: "Joubert syndrome with orofaciodigital defect" EXACT [GARD:0004412]
synonym: "OFD6" EXACT [DOID:0060376, Orphanet:2754]
synonym: "Ofds 6" RELATED [OMIM:277170]
synonym: "oral-facial-digital syndrome type 6" EXACT [Orphanet:2754]
synonym: "oral-Facial-digital syndrome, type 6" RELATED [OMIM:277170]
synonym: "orofaciodigital syndrome 6" RELATED [OMIM:277170]
synonym: "orofaciodigital syndrome type 6" EXACT [MONDORULE:1, OMIM:277170, Orphanet:2754]
synonym: "orofaciodigital syndrome VI" EXACT [DOID:0060376]
synonym: "orofaciodigital syndrome VI" RELATED [MONDO:Lexical, OMIM:277170]
synonym: "orofaciodigital syndrome VI; OFD6" RELATED [OMIM:277170]
synonym: "polydactyly - cleft lip/palate - psychomotor retardation" RELATED [GARD:0004412]
synonym: "polydactyly cleft lip palate psychomotor retardation" RELATED [GARD:0004412]
synonym: "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" RELATED [OMIM:277170]
synonym: "polydactyly-cleft lip/palate-psychomotor retardation syndrome" EXACT [Orphanet:2754]
synonym: "Varadi syndrome" EXACT [DOID:0060376, OMIM:277170]
synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, OMIM:277170]
synonym: "Váradi syndrome" RELATED [GARD:0004412]
synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412]
xref: DOID:0060376 {source="MONDO:equivalentTo"}
xref: GARD:0004412 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:2754/attributed", source="ORDO:2754/ntbt", source="Orphanet:2754"}
xref: MESH:C536531 {source="DOID:0060376", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C124841 {source="MONDO:kboom-pr-1.00/0.91/29.39", source="MONDO:equivalentTo"}
xref: OMIM:277170 {source="DOID:0060376", source="ORDO:2754/e", source="MONDO:equivalentTo", source="Orphanet:2754"}
xref: Orphanet:2754 {source="DOID:0060376", source="GARD:0004412", source="MONDO:equivalentTo", source="OMIM:277170"}
xref: SCTID:721873007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2745997 {source="DOID:0060376", source="ORDO:2754/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2754", source="NCIT:C124841", source="OMIM:277170"}
is_a: MONDO:0000508 {source="Orphanet:2754"} ! syndromic intellectual disability
is_a: MONDO:0013824 ! Joubert syndrome 17
is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="Orphanet:2754", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0017118 {source="MONDO:Redundant", source="Orphanet:2754", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019589 {source="Orphanet:2754"} ! syndromic genetic deafness
property_value: exactMatch DOID:0060376
property_value: exactMatch http://identifiers.org/mesh/C536531
property_value: exactMatch http://identifiers.org/omim/277170
property_value: exactMatch http://identifiers.org/snomedct/721873007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745997
property_value: exactMatch NCIT:C124841
property_value: exactMatch Orphanet:2754
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation xsd:anyURI {source="GARD:0004412"}

[Term]
id: MONDO:0010177
name: retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
def: "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage." [Orphanet:3018]
subset: ordo_malformation_syndrome {source="Orphanet:3018"}
synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a" RELATED [GARD:0004635]
synonym: "Rambaud-Gallian syndrome" EXACT [Orphanet:3018]
synonym: "Rambaud-Gallian-Touchard syndrome" EXACT [Orphanet:3018]
synonym: "vascular hyalinosis" RELATED [OMIM:277175]
xref: GARD:0004635 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E78.8 {source="ORDO:3018/ntbt", source="Orphanet:3018"}
xref: MESH:C564750 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277175 {source="ORDO:3018/e", source="MONDO:equivalentTo", source="Orphanet:3018"}
xref: Orphanet:3018 {source="OMIM:277175", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:3018"} ! systemic disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848590
property_value: exactMatch http://identifiers.org/mesh/C535283
property_value: exactMatch http://identifiers.org/mesh/C564750
property_value: exactMatch http://identifiers.org/omim/277175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930864
property_value: exactMatch Orphanet:3018

[Term]
id: MONDO:0010178
name: congenital bilateral aplasia of vas deferens from CFTR mutation
def: "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." [NCIT:C129303]
synonym: "CAVD" RELATED [OMIM:277180]
synonym: "CBAVD" RELATED [MONDO:Lexical, OMIM:277180]
synonym: "congenital bilateral aplasia of the vas deferens" EXACT [NCIT:C129303]
synonym: "vas deferens, congenital bilateral aplasia of" EXACT [MONDO:Lexical, OMIM:277180]
synonym: "vas deferens, congenital bilateral aplasia of; CBAVD" RELATED [OMIM:277180]
xref: NCIT:C129303 {source="MONDO:equivalentTo"}
xref: OMIM:277180 {source="MONDO:equivalentTo"}
is_a: MONDO:0018801 {source="OMIM:277180", source="ORDO:48/btnt"} ! congenital bilateral absence of vas deferens
property_value: exactMatch http://identifiers.org/omim/277180
property_value: exactMatch NCIT:C129303

[Term]
id: MONDO:0010179
name: isolated right ventricular hypoplasia
def: "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." [Orphanet:439]
subset: ordo_morphological_anomaly {source="Orphanet:439"}
synonym: "hypoplasia of the right ventricle" RELATED [GARD:0004721]
synonym: "Irvh" RELATED [OMIM:277200]
synonym: "isolated hypoplasia of the right ventricle" RELATED [GARD:0004721]
synonym: "right ventricle hypoplasia" RELATED [GARD:0004721]
synonym: "right ventricular hypoplasia" RELATED [GARD:0004721]
synonym: "right ventricular hypoplasia, isolated" RELATED [OMIM:277200]
xref: GARD:0004721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q22.6 {source="MONDO:subClassOf", source="Orphanet:439", source="ORDO:439/ntbt"}
xref: MESH:C535682 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277200 {source="ORDO:439/e", source="MONDO:equivalentTo", source="Orphanet:439"}
xref: Orphanet:439 {source="MONDO:equivalentTo", source="OMIM:277200"}
xref: SCTID:718135001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1848587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277200", source="Orphanet:439"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
is_a: MONDO:0020291 {source="Orphanet:439"} ! hypoplastic right heart syndrome
property_value: exactMatch http://identifiers.org/mesh/C535682
property_value: exactMatch http://identifiers.org/omim/277200
property_value: exactMatch http://identifiers.org/snomedct/718135001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848587
property_value: exactMatch Orphanet:439

[Term]
id: MONDO:0010180
name: autosomal recessive spondylocostal dysostosis
def: "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." [Orphanet:2311]
subset: ordo_malformation_syndrome {source="Orphanet:2311"}
synonym: "costovertebral dysplasia" RELATED [OMIM:277300]
synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311]
synonym: "SCDO1" RELATED [MONDO:Lexical, OMIM:277300]
synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300]
synonym: "spondylocostal dysostosis 1, autosomal recessive; SCDO1" RELATED [OMIM:277300]
synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:Q76.8 {source="Orphanet:2311", source="ORDO:2311/attributed", source="ORDO:2311/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535781 {source="Orphanet:2311", source="ORDO:2311/e", source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="MONDO:equivalentTo", source="OMIM:277300"}
xref: SCTID:61367005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:CN032975 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000359 {source="DC-OMIM:277300", source="MONDO:Redundant", source="MONDOLEX:0010180", source="OMIM:277300"} ! spondylocostal dysostosis
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017747 {source="Orphanet:2311"} ! disorder of fucoglycosan synthesis
is_a: MONDO:0018292 {source="Orphanet:2311"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019711 {source="Orphanet:2311"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/mesh/C535781
property_value: exactMatch http://identifiers.org/mesh/C537565
property_value: exactMatch http://identifiers.org/omim/277300
property_value: exactMatch http://identifiers.org/snomedct/61367005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032975
property_value: exactMatch Orphanet:2311

[Term]
id: MONDO:0010181
name: oculogastrointestinal muscular dystrophy
def: "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." [Orphanet:1876]
subset: ordo_disease {source="Orphanet:1876"}
synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496]
synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320]
synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320]
synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496]
synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320]
synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876]
xref: GARD:0005496 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:relatedTo", source="ORDO:1876/attributed", source="ORDO:1876/ntbt", source="Orphanet:1876"}
xref: OMIM:277320 {source="MONDO:equivalentTo", source="ORDO:1876/e", source="Orphanet:1876"}
xref: Orphanet:1876 {source="MONDO:equivalentTo", source="OMIM:277320"}
xref: SCTID:722060007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020169 {source="Orphanet:1876"} ! rare disorder with ptosis
is_a: MONDO:0021189 {source="Orphanet:1876"} ! intestinal motility disease
property_value: exactMatch http://identifiers.org/mesh/C536350
property_value: exactMatch http://identifiers.org/omim/277320
property_value: exactMatch http://identifiers.org/snomedct/722060007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848586
property_value: exactMatch Orphanet:1876

[Term]
id: MONDO:0010182
name: hypercarotenemia and vitamin A deficiency, autosomal recessive
synonym: "hypercarotenemia and vitamin A deficiency, autosomal recessive" EXACT [OMIM:277350]
xref: MESH:C567486 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277350 {source="MONDO:equivalentTo"}
xref: UMLS:C2678266 {source="OMIM:277350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007272 {source="ORDO:199285/btnt"} ! hereditary hypercarotenemia and vitamin A deficiency
property_value: exactMatch http://identifiers.org/mesh/C567486
property_value: exactMatch http://identifiers.org/omim/277350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678266

[Term]
id: MONDO:0010183
name: methylmalonic aciduria and homocystinuria type cblF
def: "cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." [Orphanet:79284]
comment: Editor note: TODO - relevant annotation from GO
subset: ordo_clinical_subtype {source="Orphanet:79284"}
synonym: "cblF defect" EXACT [Orphanet:79284]
synonym: "cblF methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin F defect" EXACT [Orphanet:79284]
synonym: "cobalamin F deficiency" EXACT [DOID:0050717]
synonym: "cobalamin F disease" RELATED [OMIM:277380]
synonym: "cobalamin locus f variant" RELATED []
synonym: "cobalamin, defect in lysosomal release of" RELATED [OMIM:277380]
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF" EXACT [Orphanet:79284]
synonym: "inherited methylmalonic acidemia and homocystinuria" EXACT []
synonym: "lysosomal membrane cobalamin transporter deficiency" EXACT [Orphanet:79284]
synonym: "MAHCF" RELATED [OMIM:277380]
synonym: "methylmalonic acidemia and homocystinuria, cblF type" RELATED [OMIM:277380]
synonym: "methylmalonic acidemia with homocystinuria type cblF" RELATED [Orphanet:79284]
synonym: "methylmalonic aciduria and homocystinuria, cblF type" RELATED [OMIM:277380]
synonym: "methylmalonic aciduria and homocystinuria, cblF type; MAHCF" RELATED [OMIM:277380]
synonym: "methylmalonic aciduria due to vitamin B12-release defect" RELATED [OMIM:277380]
synonym: "methylmalonic aciduria with homocystinuria, type cblF" EXACT [Orphanet:79284]
synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380]
synonym: "vitamin B12 storage disease" RELATED [OMIM:277380]
xref: DOID:0050717 {source="MONDO:equivalentTo"}
xref: GARD:0003584 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="ORDO:79284/attributed", source="ORDO:79284/ntbt", source="Orphanet:79284"}
xref: MESH:C564747 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277380 {source="ORDO:79284/e", source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717"}
xref: Orphanet:79284 {source="OMIM:277380", source="MONDO:equivalentTo"}
xref: SCTID:80887004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016826 {source="DC-OMIM:277380", source="MONDOLEX:0010183", source="Orphanet:79284"} ! methylmalonic acidemia with homocystinuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848578
property_value: exactMatch DOID:0050717
property_value: exactMatch http://identifiers.org/mesh/C564747
property_value: exactMatch http://identifiers.org/omim/277380
property_value: exactMatch http://identifiers.org/snomedct/80887004
property_value: exactMatch Orphanet:79284

[Term]
id: MONDO:0010184
name: methylmalonic aciduria and homocystinuria type cblC
def: "cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." [Orphanet:79282]
subset: ordo_clinical_subtype {source="Orphanet:79282"}
synonym: "cblC" RELATED [GARD:0012128]
synonym: "cblC - cobalamin locus c" RELATED []
synonym: "cblC defect" EXACT [Orphanet:79282]
synonym: "cblC methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin C defect" EXACT [Orphanet:79282]
synonym: "cobalamin C deficiency" EXACT [DOID:0050715]
synonym: "cobalamin c disease" EXACT []
synonym: "cobalamin locus c variant" RELATED []
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" EXACT [Orphanet:79282]
synonym: "MAHCC" RELATED [OMIM:277400]
synonym: "methylmalonic acidemia and homocystinuria cblC" RELATED [GARD:0012128]
synonym: "methylmalonic acidemia and homocystinuria, cblC type" RELATED [OMIM:277400]
synonym: "methylmalonic acidemia with homocystinuria type cblC" RELATED [GARD:0012128]
synonym: "methylmalonic acidemia with homocystinuria, type cblC" RELATED [Orphanet:79282]
synonym: "methylmalonic aciduria and homocystinuria cblC" RELATED [GARD:0012128]
synonym: "methylmalonic aciduria and homocystinuria, cblC type" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria and homocystinuria, cblC type, digenic" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria and homocystinuria, cblC type; MAHCC" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet:79282]
synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400]
xref: DOID:0050715 {source="MONDO:equivalentTo"}
xref: GARD:0012128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="Orphanet:79282", source="ORDO:79282/attributed", source="ORDO:79282/ntbt"}
xref: NCIT:C142174 {source="MONDO:equivalentTo"}
xref: OMIM:277400 {source="ORDO:79282/e", source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715"}
xref: Orphanet:79282 {source="MONDO:equivalentTo", source="OMIM:277400"}
xref: SCTID:74653006 {source="MONDO:equivalentTo"}
xref: UMLS:CN205878 {source="MONDO:equivalentTo"}
is_a: MONDO:0016133 {source="Orphanet:79282"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016826 {source="DC-OMIM:277400", source="MONDOLEX:0010184", source="Orphanet:79282"} ! methylmalonic acidemia with homocystinuria
is_a: MONDO:0020281 {source="Orphanet:79282"} ! metabolic disease with pigmentary retinitis
property_value: exactMatch DOID:0050715
property_value: exactMatch http://identifiers.org/omim/277400
property_value: exactMatch http://identifiers.org/snomedct/74653006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205878
property_value: exactMatch NCIT:C142174
property_value: exactMatch Orphanet:79282

[Term]
id: MONDO:0010185
name: methylmalonic aciduria and homocystinuria type cblD
def: "type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." [Orphanet:79283]
subset: ordo_clinical_subtype {source="Orphanet:79283"}
synonym: "cblD - cobalamin locus d" RELATED []
synonym: "cblD defect" EXACT [Orphanet:79283]
synonym: "cblD methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin D defect" EXACT [Orphanet:79283]
synonym: "cobalamin D deficiency" EXACT [DOID:0050716]
synonym: "cobalamin d disease" EXACT []
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD" EXACT [Orphanet:79283]
synonym: "homocystinuria, cblD type, variant 1" RELATED [OMIM:277410]
synonym: "homocystinuria, cblD type, variant 1, included" RELATED [GARD:0003582]
synonym: "m0e.321 cobalamin locus d variant" RELATED []
synonym: "MAHCD" RELATED [OMIM:277410]
synonym: "Mehtylmalonic acidemia with homocystinuria cbI d" RELATED [GARD:0003582]
synonym: "methylmalonic acidemia and homocystinuria, cblD type" RELATED [OMIM:277410]
synonym: "methylmalonic acidemia with homocystinuria type cblD" RELATED [GARD:0003582]
synonym: "methylmalonic acidemia with homocystinuria, type cblD" RELATED [Orphanet:79283]
synonym: "methylmalonic acidemia, Cblh type" RELATED [OMIM:277410]
synonym: "methylmalonic acidemia, Cblh type, formerly" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria and homocystinuria, cblD type" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria and homocystinuria, cblD type; MAHCD" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria with homocystinuria, type cblD" EXACT [Orphanet:79283]
synonym: "methylmalonic aciduria, cblD type, variant 2" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria, cblD type, variant 2, included" RELATED [GARD:0003582]
synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410]
xref: DOID:0050716 {source="MONDO:equivalentTo"}
xref: GARD:0003582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="ORDO:79283/attributed", source="ORDO:79283/ntbt", source="Orphanet:79283"}
xref: MESH:C564743 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277410 {source="ORDO:79283/e", source="MONDO:equivalentTo", source="Orphanet:79283", source="DOID:0050716"}
xref: Orphanet:79283 {source="MONDO:equivalentTo", source="OMIM:277410"}
xref: SCTID:31220004 {source="MONDO:equivalentTo"}
xref: UMLS:CN205879 {source="MONDO:equivalentTo"}
is_a: MONDO:0016826 {source="DC-OMIM:277410", source="MONDOLEX:0010185", source="Orphanet:79283"} ! methylmalonic acidemia with homocystinuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848552
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848553
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848554
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678262
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678263
property_value: exactMatch DOID:0050716
property_value: exactMatch http://identifiers.org/mesh/C564743
property_value: exactMatch http://identifiers.org/omim/277410
property_value: exactMatch http://identifiers.org/snomedct/31220004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205879
property_value: exactMatch Orphanet:79283

[Term]
id: MONDO:0010186
name: vitamin D-dependent rickets, type 2A
def: "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." [NCIT:C131075]
synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [OMIM:277440]
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" EXACT [NCIT:C131075]
synonym: "hypocalcemic vitamin D-resistant rickets" RELATED [OMIM:277440]
synonym: "Pddr 2A" RELATED [OMIM:277440]
synonym: "Pseudovitamin D-deficiency, type 2A" RELATED [OMIM:277440]
synonym: "rickets, hereditary vitamin D-resistant" RELATED [OMIM:277440]
synonym: "rickets-alopecia syndrome" RELATED [OMIM:277440]
synonym: "VDDR2A" RELATED [MONDO:Lexical, OMIM:277440]
synonym: "VDR vitamin D-dependent rickets, type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "vitamin D dependent rickets 2a" EXACT [NCIT:C131075]
synonym: "vitamin D receptor deficiency rickets" EXACT [NCIT:C131075]
synonym: "vitamin d-dependent rickets type ii with alopecia" EXACT [MONDO:cjm]
synonym: "vitamin D-dependent rickets, type 2 caused by mutation in VDR" EXACT [MONDO:design_pattern]
synonym: "vitamin D-dependent rickets, type 2A" EXACT [MONDO:Lexical, OMIM:277440]
synonym: "vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [OMIM:277440]
synonym: "vitamin D-dependent rickets, type 2A; VDDR2A" RELATED [OMIM:277440]
synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" RELATED [OMIM:277440]
xref: NCIT:C131075 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.88"}
xref: OMIM:277440 {source="MONDO:equivalentTo"}
xref: SCTID:237894002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0342646 {source="OMIM:277440", source="MONDO:equivalentTo", source="NCIT:C131075"}
is_a: MONDO:0019642 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0010186", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268690
property_value: exactMatch http://identifiers.org/omim/277440
property_value: exactMatch http://identifiers.org/snomedct/237894002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342646
property_value: exactMatch NCIT:C131075

[Term]
id: MONDO:0010187
name: vitamin K-dependent clotting factors, combined deficiency of, type 1
def: "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." [Orphanet:98434]
subset: ordo_disease {source="Orphanet:98434"}
subset: prototype_pattern
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern]
synonym: "factors II, VII, IX, and X, combined deficiency of" RELATED [OMIM:277450]
synonym: "familial multiple coagulation Factor deficiency 3" RELATED [OMIM:277450]
synonym: "FMFD 3" RELATED [OMIM:277450]
synonym: "GGCX congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [OMIM:277450]
synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [Orphanet:98434]
synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [Orphanet:98434]
synonym: "multiple coagulation Factor deficiency 3" RELATED [OMIM:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1" RELATED [OMIM:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" EXACT [MONDORULE:1, OMIM:277450]
synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450]
synonym: "Vkcfd" RELATED [OMIM:277450]
synonym: "VKCFD1" RELATED [MONDO:Lexical, OMIM:277450]
xref: ICD10:D68.2 {source="Orphanet:98434", source="ORDO:98434/attributed", source="ORDO:98434/ntbt"}
xref: MESH:C564741 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="ORDO:98434/e"}
xref: Orphanet:98434 {source="OMIM:277450", source="MONDO:equivalentTo"}
xref: SCTID:724356003 {source="MONDO:equivalentTo"}
xref: UMLS:C1848534 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:98434", source="NCBI:mim2gene_medline", source="OMIM:277450", source="MONDO:equivalentTo"}
is_a: MONDO:0015722 {source="DC-OMIM:277450", source="MONDO:Redundant", source="OMIM:277450"} ! congenital vitamin K-dependent coagulation factors deficiency
is_a: MONDO:0017760 {source="Orphanet:98434"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0021181 {source="MESH:C564741", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C564741
property_value: exactMatch http://identifiers.org/omim/277450
property_value: exactMatch http://identifiers.org/snomedct/724356003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848534
property_value: exactMatch Orphanet:98434

[Term]
id: MONDO:0010188
name: familial isolated deficiency of vitamin E
def: "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." [Orphanet:96]
subset: ordo_disease {source="Orphanet:96"}
synonym: "ataxia with isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96]
synonym: "ataxia with vitamin E deficiency" RELATED [Orphanet:96]
synonym: "ataxia, Friedreich-like, with selective vitamin E deficiency" RELATED [OMIM:277460]
synonym: "AVED" EXACT [Orphanet:96]
synonym: "familial isolated deficiency of vitamin type E" EXACT [DOID:0090028, MONDORULE:1]
synonym: "familial isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96]
synonym: "Friedreich-like ataxia" EXACT [Orphanet:96]
synonym: "Friedreich-like ataxia" RELATED [OMIM:277460]
synonym: "Friedreich-like ataxia with selective vitamin E deficiency" RELATED [GARD:0008595]
synonym: "isolated vitamin E deficiency" EXACT [Orphanet:96]
synonym: "VED" RELATED [MONDO:Lexical, OMIM:277460]
synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460]
synonym: "vitamin E, familial isolated deficiency OF; VED" RELATED [OMIM:277460]
xref: DOID:0090028 {source="MONDO:equivalentTo"}
xref: GARD:0008595 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="DOID:0090028", source="ORDO:96/attributed", source="ORDO:96/ntbt", source="Orphanet:96"}
xref: ICD9:269.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10047631 {source="Orphanet:96", source="ORDO:96/e"}
xref: MESH:C535393 {source="MONDO:equivalentTo", source="DOID:0090028", source="MONDO:ontobio", source="Orphanet:96", source="ORDO:96/e"}
xref: OMIM:277460 {source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96", source="ORDO:96/e"}
xref: Orphanet:96 {source="OMIM:277460", source="MONDO:equivalentTo", source="DOID:0090028"}
xref: SCTID:702442008 {source="MONDO:kboom-pr-1.00/0.79/8.34", source="MONDO:equivalentTo"}
is_a: MONDO:0005528 {source="DOID:0090028"} ! inborn vitamin metabolic disorder
is_a: MONDO:0016133 {source="Orphanet:96"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017760 {source="Orphanet:96"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0019058 {source="Orphanet:96"} ! neurometabolic disease
is_a: MONDO:0020044 {source="Orphanet:96"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0020281 {source="Orphanet:96"} ! metabolic disease with pigmentary retinitis
property_value: exactMatch DOID:0090028
property_value: exactMatch http://identifiers.org/meddra/10047631
property_value: exactMatch http://identifiers.org/mesh/C535393
property_value: exactMatch http://identifiers.org/omim/277460
property_value: exactMatch http://identifiers.org/snomedct/702442008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848533
property_value: exactMatch Orphanet:96

[Term]
id: MONDO:0010189
name: vitiligo, progressive, with mental retardation and urethral duplication
synonym: "vitiligo, progressive, with mental retardation and urethral duplication" EXACT [OMIM:277465]
xref: MESH:C564739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277465 {source="MONDO:equivalentTo"}
xref: UMLS:C1848532 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277465"}
is_a: MONDO:0003847 {source="MESH:C564739/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564739
property_value: exactMatch http://identifiers.org/omim/277465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848532

[Term]
id: MONDO:0010190
name: pontocerebellar hypoplasia type 2A
def: "Any pontocerebellar hypoplasia type 2 in which the cause of the disease is a mutation in the TSEN54 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "microcephaly pontocerebellar hypoplasia dyskinesia" RELATED [GARD:0003631]
synonym: "Pch2" RELATED [OMIM:277470]
synonym: "PCH2A" RELATED [MONDO:Lexical, OMIM:277470]
synonym: "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54" EXACT [MONDO:design_pattern]
synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" RELATED [OMIM:277470]
synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical, OMIM:277470]
synonym: "pontocerebellar hypoplasia, type 2A; PCH2A" RELATED [OMIM:277470]
synonym: "TSEN54 pontocerebellar hypoplasia type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Volendam neurodegenerative disease" RELATED [OMIM:277470]
xref: DOID:0060267 {source="MONDO:equivalentTo"}
xref: GARD:0003631 {source="MONDO:equivalentTo"}
xref: MESH:C564738 {source="DOID:0060267", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277470 {source="GARD:0003631", source="DOID:0060267", source="MONDO:equivalentTo"}
is_a: MONDO:0016759 {source="MONDO:Redundant", source="MONDOLEX:0010190", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848526
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931528
property_value: exactMatch DOID:0060267
property_value: exactMatch http://identifiers.org/mesh/C564738
property_value: exactMatch http://identifiers.org/omim/277470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia xsd:anyURI {source="GARD:0003631"}

[Term]
id: MONDO:0010191
name: von Willebrand disease 3
def: "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD (see this term) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." [Orphanet:166096]
subset: ordo_clinical_subtype {source="Orphanet:166096"}
synonym: "von Willebrand disease type 3" EXACT [DOID:0111054]
synonym: "von Willebrand disease type III" EXACT [DOID:0111054]
synonym: "VON WILLEBRAND disease, type 3" RELATED [MONDO:Lexical, OMIM:277480]
synonym: "Von Willebrand disease, type 3" RELATED [OMIM:277480]
synonym: "VON WILLEBRAND disease, type 3; VWD3" RELATED [OMIM:277480]
synonym: "von Willebrand's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 3" EXACT [DOID:0111054, MONDORULE:1]
synonym: "VWD type 3" EXACT [DOID:0111054]
synonym: "VWD, type 3" RELATED [OMIM:277480]
synonym: "VWD3" EXACT [DOID:0111054, MONDO:Lexical, OMIM:277480]
xref: DOID:0111054 {source="MONDO:equivalentTo"}
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="DOID:0111054", source="ORDO:166096/attributed", source="ORDO:166096/ntbt", source="Orphanet:166096"}
xref: MESH:D056729 {source="MONDO:equivalentTo", source="DOID:0111054", source="MONDO:ontobio", source="ORDO:166096/e", source="Orphanet:166096"}
xref: NCIT:C85213 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.99"}
xref: OMIM:277480 {source="MONDO:equivalentTo", source="DOID:0111054", source="ORDO:166096/e", source="Orphanet:166096"}
xref: Orphanet:166096 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054"}
xref: SCTID:128108002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1264041 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054", source="NCIT:C85213", source="ORDO:166096/e", source="Orphanet:166096"}
is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="MONDOLEX:0010191", source="NCIT:C85213", source="Orphanet:166096", source="linkedlifedata"} ! hereditary von Willebrand disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848525
property_value: exactMatch DOID:0111054
property_value: exactMatch http://identifiers.org/mesh/D056729
property_value: exactMatch http://identifiers.org/omim/277480
property_value: exactMatch http://identifiers.org/snomedct/128108002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264041
property_value: exactMatch NCIT:C85213
property_value: exactMatch Orphanet:166096

[Term]
id: MONDO:0010192
name: Waardenburg syndrome type 4A
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
synonym: "EDNRB Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Shah-Waardenburg syndrome" RELATED [OMIM:277580]
synonym: "Waardenburg syndrome caused by mutation in EDNRB" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type IVA" EXACT [DOID:0110953]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT [DOID:0110953]
synonym: "Waardenburg syndrome with Hirschsprung disease, type 4A" RELATED [OMIM:277580]
synonym: "Waardenburg syndrome, type 4A" RELATED [MONDO:Lexical, OMIM:277580]
synonym: "Waardenburg syndrome, type 4A; WS4A" RELATED [OMIM:277580]
synonym: "Waardenburg-Shah syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, OMIM:277580]
synonym: "Ws4" RELATED [OMIM:277580]
synonym: "WS4A" EXACT [DOID:0110953, MONDO:Lexical, OMIM:277580]
xref: DOID:0110953 {source="MONDO:equivalentTo"}
xref: OMIM:277580 {source="DOID:0110953", source="MONDO:equivalentTo"}
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848519
property_value: exactMatch DOID:0110953
property_value: exactMatch http://identifiers.org/omim/277580

[Term]
id: MONDO:0010193
name: Weaver syndrome
def: "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." [Orphanet:3447]
subset: ordo_malformation_syndrome {source="Orphanet:3447"}
synonym: "camptodactyly - overgrowth - unusual facies" RELATED [GARD:0007878]
synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [Orphanet:3447]
synonym: "EZH2 related overgrowth" RELATED [GARD:0007878]
synonym: "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED [GTR:AN0102080]
synonym: "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" RELATED [GARD:0007878]
synonym: "Weaver like syndrome" RELATED [GARD:0007878]
synonym: "Weaver Smith syndrome" RELATED [GARD:0007878]
synonym: "Weaver syndrome" EXACT [MONDO:Lexical, OMIM:277590]
synonym: "WEAVER syndrome; WVS" RELATED [OMIM:277590]
synonym: "Weaver Williams syndrome" RELATED [GTR:AN0102079]
synonym: "WEAVER-like syndrome" EXACT [DOID:14731]
synonym: "Weaver-like syndrome" RELATED [OMIM:277590]
synonym: "Weaver-Smith syndrome" RELATED [OMIM:277590]
synonym: "Weaver-Williams syndrome" EXACT EXCLUDE [DOID:14731]
synonym: "WVS" RELATED [MONDO:Lexical, OMIM:277590]
xref: DOID:14731 {source="MONDO:equivalentTo"}
xref: GARD:0007878 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GTR:AN0102079 {source="UMLS:CN036342"}
xref: GTR:AN0102080 {source="UMLS:CN036342"}
xref: ICD10:Q87.3 {source="ORDO:3447/ntbt", source="Orphanet:3447", source="ORDO:3447/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536687 {source="ORDO:3447/e", source="MONDO:equivalentTo", source="Orphanet:3447"}
xref: NCIT:C125599 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:277590 {source="ORDO:3447/e", source="MONDO:equivalentTo", source="Orphanet:3447", source="DOID:14731"}
xref: Orphanet:3447 {source="OMIM:277590", source="MONDO:equivalentTo"}
xref: SCTID:63119004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265210 {source="OMIM:277590", source="ORDO:3447/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3447", source="NCIT:C125599"}
xref: UMLS:CN036342 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3447", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3447"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019716 {source="Orphanet:3447"} ! overgrowth syndrome
property_value: closeMatch http://identifiers.org/mesh/C562443
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220765
property_value: exactMatch DOID:14731
property_value: exactMatch http://identifiers.org/mesh/C536687
property_value: exactMatch http://identifiers.org/omim/277590
property_value: exactMatch http://identifiers.org/snomedct/63119004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036342
property_value: exactMatch NCIT:C125599
property_value: exactMatch Orphanet:3447

[Term]
id: MONDO:0010194
name: Weill-Marchesani syndrome 1
def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADAMTS10 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:277600]
synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:277600]
synonym: "Weill-Marchesani syndrome 1" EXACT [MONDO:Lexical, OMIM:277600]
synonym: "Weill-Marchesani syndrome 1; WMS1" RELATED [OMIM:277600]
synonym: "Weill-Marchesani syndrome caused by mutation in ADAMTS10" EXACT [MONDO:design_pattern]
synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1, OMIM:277600]
synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [OMIM:277600]
synonym: "WMS1" RELATED [MONDO:Lexical, OMIM:277600]
xref: OMIM:277600 {source="MONDO:equivalentTo"}
is_a: MONDO:0018096 {source="DC-OMIM:277600", source="MONDO:Redundant", source="OMIM:277600"} ! Weill-Marchesani syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869114
property_value: exactMatch http://identifiers.org/omim/277600

[Term]
id: MONDO:0010195
name: Weissenbacher-Zweymuller syndrome
def: "Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts." [Orphanet:3450]
subset: ordo_malformation_syndrome {source="Orphanet:3450"}
synonym: "heterozygous OSMED" EXACT [Orphanet:3450]
synonym: "heterozygous otospondylomegaepiphyseal dysplasia" EXACT [Orphanet:3450]
synonym: "moved to 184840" RELATED [OMIM:277610]
synonym: "Piere-Robin syndrome" EXACT [DOID:4258]
synonym: "Pierre Robin malformation" EXACT [DOID:4258]
synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia" RELATED [OMIM:277610]
synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450]
synonym: "Weissenbacher- Zweymuller syndrome" RELATED [Orphanet:3450]
synonym: "Weissenbacher-Zweymuller syndrome" EXACT [MONDO:Lexical, OMIM:277610]
synonym: "Weissenbacher-Zweymuller syndrome; WZS" RELATED [OMIM:277610]
synonym: "Weissenbacher-Zweymüller syndrome" RELATED [GARD:0004351]
synonym: "WZS" RELATED [MONDO:Lexical, OMIM:277610]
xref: DOID:4258 {source="MONDO:equivalentTo"}
xref: GARD:0004351 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:3450/attributed", source="ORDO:3450/ntbt", source="Orphanet:3450"}
xref: MESH:C535776 {source="MONDO:equivalentTo"}
xref: OMIM:277610 {source="MONDO:equivalentTo", source="ORDO:3450/e", source="Orphanet:3450"}
xref: Orphanet:3450 {source="MONDO:equivalentTo", source="OMIM:277610"}
xref: SCTID:699313003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0015335 {source="Orphanet:3450"} ! orofacial clefting syndrome
is_a: MONDO:0016761 {source="Orphanet:3450"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019687 {source="Orphanet:3450"} ! type 11 collagen-related bone disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3450"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/156908005
property_value: closeMatch http://identifiers.org/snomedct/268313009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848488
property_value: exactMatch DOID:4258
property_value: exactMatch http://identifiers.org/mesh/C535776
property_value: exactMatch http://identifiers.org/omim/277610
property_value: exactMatch http://identifiers.org/snomedct/699313003
property_value: exactMatch Orphanet:3450

[Term]
id: MONDO:0010196
name: Werner syndrome
def: "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." [Orphanet:902]
subset: ordo_disease {source="Orphanet:902"}
synonym: "adult premature ageing syndrome" EXACT [DOID:5688]
synonym: "adult progeria" EXACT [CSP2005:1849-9804, DOID:5688, Orphanet:902]
synonym: "Werner syndrome" EXACT [MONDO:Lexical, OMIM:277700]
synonym: "Werner syndrome; WRN" RELATED [OMIM:277700]
synonym: "Werner's syndrome" EXACT [DOID:5688]
synonym: "WRN" RELATED [MONDO:Lexical, OMIM:277700]
synonym: "WS" EXACT [DOID:5688, NCIT:C3447, Orphanet:902]
xref: DOID:5688 {source="MONDO:equivalentTo"}
xref: GARD:0007885 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E34.8 {source="ORDO:902/index", source="ORDO:902/ntbt", source="Orphanet:902"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049429 {source="ORDO:902/e", source="Orphanet:902"}
xref: MESH:D014898 {source="DOID:5688", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902", source="MONDO:ontobio"}
xref: NCIT:C3447 {source="DOID:5688", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.78/0.98"}
xref: OMIM:277700 {source="DOID:5688", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902"}
xref: Orphanet:902 {source="DOID:5688", source="MONDO:equivalentTo", source="OMIM:277700"}
xref: SCTID:51626007 {source="DOID:5688", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0043119 {source="DOID:5688", source="NCBI:mim2gene_medline", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902", source="NCIT:C3447", source="OMIM:277700"}
is_a: MONDO:0006025 {source="DOID:5688", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015331 {source="Orphanet:902"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:902"} ! progeroid syndrome
is_a: MONDO:0015945 {source="Orphanet:902"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016382 {source="Orphanet:902"} ! hereditary poikiloderma
is_a: MONDO:0020277 {source="Orphanet:902"} ! ectodermal malformation syndrome associated with ocular features
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/190590004
property_value: closeMatch http://identifiers.org/snomedct/190592007
property_value: exactMatch DOID:5688
property_value: exactMatch http://identifiers.org/meddra/10049429
property_value: exactMatch http://identifiers.org/mesh/D014898
property_value: exactMatch http://identifiers.org/omim/277700
property_value: exactMatch http://identifiers.org/snomedct/51626007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043119
property_value: exactMatch NCIT:C3447
property_value: exactMatch Orphanet:902

[Term]
id: MONDO:0010197
name: whistling face syndrome, recessive form
subset: gard_rare {source="GARD:0010024"}
synonym: "whistling face syndrome, recessive form" EXACT [OMIM:277720]
xref: GARD:0010024 {source="MONDO:equivalentTo"}
xref: MESH:C536699 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277720 {source="MONDO:equivalentTo"}
xref: UMLS:C1848470 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277720"}
is_a: MONDO:0008675 {source="MONDOLEX:0010197", source="ORDO:2053/btnt"} ! freeman-Sheldon syndrome
property_value: exactMatch http://identifiers.org/mesh/C536699
property_value: exactMatch http://identifiers.org/omim/277720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form xsd:anyURI {source="GARD:0010024"}

[Term]
id: MONDO:0010198
name: Wernicke-Korsakoff syndrome
def: "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome . The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS , infections), bariatric surgery , transplants, or the effects of chemotherapy . Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine . Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." [https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome]
comment: Editor note: todo check
subset: gard_rare {source="GARD:0006843"}
synonym: "alcohol-induced encephalopathy" RELATED [OMIM:277730]
synonym: "Korsakoff syndrome" EXACT [DOID:10915]
synonym: "Korsakoff's psychosis" EXACT [DOID:10915]
synonym: "Korsakoff's syndrome" EXACT [CSP2005:2042-6017, DOID:10915]
synonym: "Korsakov psychosis" EXACT [DOID:10915]
synonym: "Korsakov's psychosis" EXACT [DOID:10915]
synonym: "transketolase defect" RELATED [OMIM:277730]
synonym: "Wernicke encephalopathy" EXACT [NCIT:C35764]
synonym: "Wernicke-Korsakoff syndrome" EXACT [OMIM:277730]
xref: DOID:10915 {source="EFO:1001242", source="MONDO:equivalentTo"}
xref: EFO:1001242 {source="MONDO:equivalentTo"}
xref: GARD:0006843 {source="MONDO:equivalentTo"}
xref: MedDRA:10047913 {source="EFO:1001242"}
xref: MESH:C538669 {source="MONDO:equivalentTo"}
xref: NCIT:C35764 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915", source="MONDO:kboom-pr-0.93/0.84/0.45"}
xref: OMIM:277730 {source="MONDO:equivalentTo", source="DOID:10915"}
xref: SCTID:69482004 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915", source="MONDO:kboom-pr-0.89/0.75/0.29"}
is_a: MONDO:0002254 {source="MONDOLEX:0010198", source="NCIT:C35764"} ! syndromic disease
is_a: MONDO:0006873 {source="DOID:10915", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: closeMatch http://identifiers.org/meddra/10047913
property_value: closeMatch http://identifiers.org/mesh/D020915
property_value: closeMatch http://identifiers.org/snomedct/154854002
property_value: closeMatch http://identifiers.org/snomedct/191470004
property_value: closeMatch http://identifiers.org/snomedct/191472007
property_value: closeMatch http://identifiers.org/snomedct/268745002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349464
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931918
property_value: closeMatch NCIT:C84803
property_value: closeMatch Orphanet:97354
property_value: exactMatch DOID:10915
property_value: exactMatch http://identifiers.org/mesh/C538669
property_value: exactMatch http://identifiers.org/omim/277730
property_value: exactMatch http://identifiers.org/snomedct/69482004
property_value: exactMatch NCIT:C35764
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome xsd:anyURI {source="GARD:0006843"}

[Term]
id: MONDO:0010199
name: white forelock with malformations
def: "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." [Orphanet:2475]
subset: gard_rare {source="GARD:0010081"}
subset: ordo_malformation_syndrome {source="Orphanet:2475"}
synonym: "white forelock with malformations" EXACT [OMIM:277740]
xref: GARD:0010081 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2475", source="ORDO:2475/attributed", source="ORDO:2475/ntbt"}
xref: MESH:C536700 {source="ORDO:2475/e", source="Orphanet:2475", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277740 {source="ORDO:2475/e", source="Orphanet:2475", source="MONDO:equivalentTo"}
xref: Orphanet:2475 {source="MONDO:equivalentTo", source="OMIM:277740"}
xref: SCTID:763619009 {source="MONDO:equivalentTo"}
xref: UMLS:C1848463 {source="ORDO:2475/e", source="Orphanet:2475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277740"}
is_a: MONDO:0015506 {source="Orphanet:2475"} ! rare syndrome with cardiac malformations
is_a: MONDO:0043008 {source="Orphanet:2475"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536700
property_value: exactMatch http://identifiers.org/omim/277740
property_value: exactMatch http://identifiers.org/snomedct/763619009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848463
property_value: exactMatch Orphanet:2475
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations xsd:anyURI {source="GARD:0010081"}

[Term]
id: MONDO:0010200
name: Wilson disease
def: "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." [Orphanet:905]
subset: clingen
subset: gard_rare {source="GARD:0007893"}
subset: ordo_disease {source="Orphanet:905"}
synonym: "cerebral pseudosclerosis" EXACT [DOID:893]
synonym: "hepatolenticular Degeneration" RELATED [OMIM:277900]
synonym: "hepatolenticular degeneration" EXACT [DOID:893, Orphanet:905]
synonym: "WD" RELATED [GARD:0007893]
synonym: "Westphal pseudosclerosis" EXACT [CSP2005:1849-4349, DOID:893]
synonym: "Westphal-Strumpell syndrome" EXACT [DOID:893]
synonym: "Wilson disease" EXACT [OMIM:277900]
synonym: "Wilson's disease" EXACT [DOID:893]
synonym: "Wnd" RELATED [OMIM:277900]
xref: DOID:893 {source="MONDO:equivalentTo"}
xref: GARD:0007893 {source="MONDO:equivalentTo"}
xref: ICD10:E83.0 {source="ORDO:905/ntbt", source="Orphanet:905", source="ORDO:905/inclusion"}
xref: ICD10:E83.01 {source="DOID:893"}
xref: MedDRA:10019819 {source="ORDO:905/e", source="Orphanet:905"}
xref: MESH:D006527 {source="MONDO:equivalentTo", source="ORDO:905/e", source="MONDO:ontobio", source="Orphanet:905", source="DOID:893"}
xref: NCIT:C84756 {source="MONDO:equivalentTo", source="DOID:893", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:277900 {source="MONDO:equivalentTo", source="ORDO:905/e", source="Orphanet:905", source="DOID:893"}
xref: Orphanet:905 {source="MONDO:equivalentTo", source="OMIM:277900"}
xref: SCTID:88518009 {source="MONDO:equivalentTo", source="DOID:893"}
xref: UMLS:C0019202 {source="NCIT:C84756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:905/e", source="Orphanet:905", source="DOID:893", source="OMIM:277900"}
is_a: MONDO:0004689 {source="DOID:893", source="MESH:D006527"} ! inborn metal metabolism disorder
is_a: MONDO:0016133 {source="Orphanet:905"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016400 {source="Orphanet:905"} ! metal transport or utilization disorder with epilepsy
is_a: MONDO:0017762 {source="Orphanet:905"} ! disorder of copper metabolism
is_a: MONDO:0018265 {source="Orphanet:905"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0019058 {source="Orphanet:905"} ! neurometabolic disease
is_a: MONDO:0019743 {source="Orphanet:905"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020016 {source="Orphanet:905"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0020257 {source="Orphanet:905"} ! supranuclear oculomotor palsy
is_a: MONDO:0020279 {source="Orphanet:905"} ! metabolic disease with corneal opacity
is_a: MONDO:0020280 {source="Orphanet:905"} ! metabolic disease with cataract
property_value: closeMatch http://identifiers.org/snomedct/154751003
property_value: closeMatch http://identifiers.org/snomedct/190823004
property_value: closeMatch http://identifiers.org/snomedct/191710006
property_value: closeMatch http://identifiers.org/snomedct/192640001
property_value: closeMatch http://identifiers.org/snomedct/267504005
property_value: exactMatch DOID:893
property_value: exactMatch http://identifiers.org/meddra/10019819
property_value: exactMatch http://identifiers.org/mesh/D006527
property_value: exactMatch http://identifiers.org/omim/277900
property_value: exactMatch http://identifiers.org/snomedct/88518009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019202
property_value: exactMatch NCIT:C84756
property_value: exactMatch Orphanet:905
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7893/wilson-disease xsd:anyURI {source="GARD:0007893"}

[Term]
id: MONDO:0010201
name: Winchester syndrome
comment: Editor note: check relationship to parent
synonym: "Al-Qeel Sewairi syndrome" RELATED [GARD:0007894]
synonym: "multicentric osteolysis, nodulosis and arthropathy" RELATED [GARD:0007894]
synonym: "noa syndrome" RELATED [GARD:0007894]
synonym: "nodulosis arthropathy osteolysis syndrome" RELATED [GARD:0007894]
synonym: "Torg Winchester syndrome" RELATED [GARD:0007894]
synonym: "Winchester syndrome" EXACT [MONDO:Lexical, OMIM:277950]
synonym: "Winchester syndrome; WNCHRS" RELATED [OMIM:277950]
synonym: "Winchester-Grossman syndrome" RELATED [GARD:0007894]
synonym: "WNCHRS" RELATED [MONDO:Lexical, OMIM:277950]
xref: GARD:0007894 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:277950 {source="MONDO:equivalentTo"}
xref: SCTID:254151006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:CN204453 {source="MONDO:equivalentTo"}
is_a: MONDO:0018104 {source="ORDO:3460/btnt"} ! Torg-Winchester syndrome
is_a: MONDO:0019410 {source="ORDO:85196/btnt"} ! nodulosis-arthropathy-osteolysis syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432289
property_value: exactMatch http://identifiers.org/omim/277950
property_value: exactMatch http://identifiers.org/snomedct/254151006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204453

[Term]
id: MONDO:0010202
name: obsolete Wiskott-Aldrich syndrome
is_obsolete: true
replaced_by: MONDO:0010518

[Term]
id: MONDO:0010203
name: intellectual disability, Wolff type
def: "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." [Orphanet:3080]
subset: ordo_malformation_syndrome {source="Orphanet:3080"}
synonym: "WOLFF mental retardation syndrome" RELATED [OMIM:277990]
synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080]
xref: ICD10:Q87.0 {source="ORDO:3080/attributed", source="ORDO:3080/ntbt", source="Orphanet:3080"}
xref: MESH:C537448 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="ORDO:3080/e"}
xref: Orphanet:3080 {source="OMIM:277990", source="MONDO:equivalentTo"}
xref: UMLS:C1848439 {source="OMIM:277990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3080", source="ORDO:3080/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3080", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537448
property_value: exactMatch http://identifiers.org/omim/277990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848439
property_value: exactMatch Orphanet:3080

[Term]
id: MONDO:0010204
name: lysosomal acid lipase deficiency
def: "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." [Orphanet:275761]
subset: ordo_disease {source="Orphanet:275761"}
synonym: "cholesterol ester hydrolase deficiency" RELATED [OMIM:278000]
synonym: "cholesteryl ester storage disease" RELATED [OMIM:278000]
synonym: "LAL deficiency" EXACT [OMIM:278000, Orphanet:275761]
synonym: "lipa deficiency" RELATED [OMIM:278000]
synonym: "lysosomal acid lipase deficiency" EXACT [OMIM:278000]
synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217]
synonym: "Wolman disease" RELATED [OMIM:278000]
xref: DOID:0080217 {source="MONDO:equivalentTo"}
xref: GARD:0012097 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.5 {source="Orphanet:275761", source="ORDO:275761/attributed", source="ORDO:275761/ntbt"}
xref: MESH:C531854 {source="MONDO:equivalentTo"}
xref: OMIM:278000 {source="ORDO:275761/e", source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217"}
xref: Orphanet:275761 {source="OMIM:278000", source="MONDO:equivalentTo"}
xref: SCTID:715923003 {source="MONDO:kboom-pr-0.90/0.75/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0015905 {source="Orphanet:275761"} ! syndromic dyslipidemia
is_a: MONDO:0019245 {source="DOID:0080217", source="MESH:C531854/inferred", source="Orphanet:275761"} ! lysosomal lipid storage disorder
relationship: excluded_subClassOf MONDO:0019148 {source="MESH:C531854"} ! Wolman disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1416865
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936797
property_value: exactMatch DOID:0080217
property_value: exactMatch http://identifiers.org/mesh/C531854
property_value: exactMatch http://identifiers.org/omim/278000
property_value: exactMatch http://identifiers.org/snomedct/715923003
property_value: exactMatch Orphanet:275761

[Term]
id: MONDO:0010205
name: Wolman disease with hypolipoproteinemia and acanthocytosis
synonym: "Wolman disease with hypolipoproteinemia and acanthocytosis" EXACT [OMIM:278100]
xref: MESH:C564736 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:278100 {source="MONDO:equivalentTo"}
xref: UMLS:C1848436 {source="OMIM:278100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019148 {source="MESH:C564736", source="MONDO:cjm", source="MONDOLEX:0010205"} ! Wolman disease
property_value: exactMatch http://identifiers.org/mesh/C564736
property_value: exactMatch http://identifiers.org/omim/278100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848436

[Term]
id: MONDO:0010206
name: hypotrichosis 8
def: "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis 8" EXACT [MONDO:Lexical, OMIM:278150]
synonym: "hypotrichosis 8; HYPT8" RELATED [OMIM:278150]
synonym: "hypotrichosis caused by mutation in LPAR6" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 8" EXACT [DOID:0110705, MONDORULE:1, OMIM:278150]
synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [DOID:0110705, OMIM:278150]
synonym: "HYPT8" EXACT [DOID:0110705]
synonym: "HYPT8" RELATED [MONDO:Lexical, OMIM:278150]
synonym: "LAH3" EXACT [DOID:0110705]
synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150]
xref: DOID:0110705 {source="MONDO:equivalentTo"}
xref: MESH:C566950 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:278150 {source="DOID:0110705", source="MONDO:equivalentTo"}
xref: UMLS:C3279470 {source="OMIM:278150", source="MONDO:equivalentTo"}
is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
is_a: MONDO:0021034 ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848435
property_value: exactMatch DOID:0110705
property_value: exactMatch http://identifiers.org/mesh/C566950
property_value: exactMatch http://identifiers.org/omim/278150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279470

[Term]
id: MONDO:0010207
name: woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1409"}
synonym: "Salamon syndrome" EXACT [OMIM:278200, Orphanet:1409]
synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELATED [GARD:0005594]
synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200]
synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409]
xref: GARD:0005594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536746 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1409/e", source="Orphanet:1409"}
xref: OMIM:278200 {source="MONDO:equivalentTo", source="ORDO:1409/e", source="Orphanet:1409"}
xref: Orphanet:1409 {source="MONDO:equivalentTo", source="OMIM:278200"}
xref: SCTID:239023005 {source="MONDO:kboom-pr-1.00/0.75/7.09", source="MONDO:equivalentTo"}
is_a: MONDO:0018558 {source="Orphanet:1409"} ! syndrome with woolly hair
property_value: exactMatch http://identifiers.org/mesh/C536746
property_value: exactMatch http://identifiers.org/omim/278200
property_value: exactMatch http://identifiers.org/snomedct/239023005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406718
property_value: exactMatch Orphanet:1409

[Term]
id: MONDO:0010208
name: wrinkly skin syndrome
def: "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." [Orphanet:2834]
subset: ordo_clinical_subtype {source="Orphanet:2834"}
synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834]
synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250]
synonym: "wrinkly skin syndrome; WSS" RELATED [OMIM:278250]
synonym: "WSS" EXACT [MONDO:Lexical, OMIM:278250, Orphanet:2834]
xref: GARD:0000273 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="ORDO:2834/attributed", source="ORDO:2834/ntbt", source="Orphanet:2834"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e", source="MONDO:ontobio"}
xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e"}
xref: Orphanet:2834 {source="OMIM:278250", source="MONDO:equivalentTo"}
xref: SCTID:238875009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406587 {source="OMIM:278250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e"}
is_a: MONDO:0018163 {source="Orphanet:2834"} ! autosomal recessive cutis laxa type 2A
property_value: exactMatch http://identifiers.org/mesh/C536750
property_value: exactMatch http://identifiers.org/omim/278250
property_value: exactMatch http://identifiers.org/snomedct/238875009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406587
property_value: exactMatch Orphanet:2834

[Term]
id: MONDO:0010209
name: xanthinuria type I
def: "Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." [Orphanet:93601]
subset: ordo_etiological_subtype {source="Orphanet:93601"}
synonym: "hereditary xanthinuria, type I" RELATED []
synonym: "isolated xanthine oxidase deficiency" EXACT []
synonym: "type 1 xanthinuria" RELATED [GARD:0005621]
synonym: "XAN1" EXACT [MESH:C562584]
synonym: "xanthine dehydrogenase deficiency" EXACT [MESH:C562584]
synonym: "xanthine oxidase deficiency" EXACT [MESH:C562584]
synonym: "xanthine oxidoreductase deficiency" RELATED [Orphanet:93601]
synonym: "xanthinuria type 1" RELATED [GARD:0005621]
synonym: "xanthinuria, type 1" RELATED [OMIM:278300]
synonym: "xanthinuria, type I" RELATED [OMIM:278300]
synonym: "xanthinuria, type I; XAN1" RELATED [OMIM:278300]
synonym: "XDH deficiency" EXACT [MESH:C562584, OMIM:278300, Orphanet:93601]
synonym: "XO deficiency" RELATED [Orphanet:93601]
synonym: "XOR deficiency" RELATED [Orphanet:93601]
xref: GARD:0005621 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E79.8 {source="ORDO:93601/attributed", source="ORDO:93601/ntbt", source="Orphanet:93601"}
xref: MESH:C562584 {source="MONDO:equivalentTo"}
xref: OMIM:278300 {source="MONDO:equivalentTo", source="ORDO:93601/e", source="Orphanet:93601"}
xref: Orphanet:93601 {source="MONDO:equivalentTo", source="OMIM:278300"}
xref: SCTID:72682008 {source="MONDO:equivalentTo"}
is_a: MONDO:0018106 {source="MONDO:Redundant", source="MONDOLEX:0010209", source="Orphanet:93601", source="linkedlifedata"} ! hereditary xanthinuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268118
property_value: exactMatch http://identifiers.org/mesh/C562584
property_value: exactMatch http://identifiers.org/omim/278300
property_value: exactMatch http://identifiers.org/snomedct/72682008
property_value: exactMatch Orphanet:93601

[Term]
id: MONDO:0010210
name: xeroderma pigmentosum group A
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843, OMIM:278700]
synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843]
synonym: "xeroderma pigmentosum group type A" EXACT [DOID:0110843, MONDORULE:1]
synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical, OMIM:278700]
synonym: "xeroderma pigmentosum, complementation group A; XPA" RELATED [OMIM:278700]
synonym: "xeroderma pigmentosum, complementation group type a" EXACT [MONDORULE:1, OMIM:278700]
synonym: "xeroderma pigmentosum, type 1" RELATED [GARD:0005624]
synonym: "XP group A" EXACT [DOID:0110843]
synonym: "XP, group A" RELATED [OMIM:278700]
synonym: "XP-A" EXACT [NCIT:C3965]
synonym: "XP1" EXACT [DOID:0110843]
synonym: "XPA" EXACT [DOID:0110843, MONDO:Lexical, OMIM:278700]
synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110843 {source="MONDO:equivalentTo"}
xref: GARD:0005624 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110843"}
xref: NCIT:C3965 {source="MONDO:kboom-pr-1.00/0.90/23.65", source="MONDO:equivalentTo"}
xref: OMIM:278700 {source="DOID:0110843", source="MONDO:equivalentTo"}
xref: Orphanet:276249 {source="MONDO:obsoleteEquivalent", source="OMIM:278700"}
xref: SCTID:43477006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.68"}
xref: UMLS:C0268135 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3965"}
is_a: MONDO:0019600 {source="DC-OMIM:278700", source="DOID:0110843", source="MONDO:Redundant", source="NCIT:C3965", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1337030
property_value: exactMatch DOID:0110843
property_value: exactMatch http://identifiers.org/omim/278700
property_value: exactMatch http://identifiers.org/snomedct/43477006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268135
property_value: exactMatch NCIT:C3965
property_value: exactMatch Orphanet:276249

[Term]
id: MONDO:0010211
name: xeroderma pigmentosum group C
def: "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." [NCIT:C114770]
subset: gard_rare
synonym: "xeroderma pigmentosum 3" RELATED [OMIM:278720]
synonym: "xeroderma pigmentosum group type C" EXACT [DOID:0110844, MONDORULE:1]
synonym: "xeroderma pigmentosum III" EXACT [DOID:0110844]
synonym: "xeroderma pigmentosum, complementation group C" RELATED [MONDO:Lexical, OMIM:278720]
synonym: "xeroderma pigmentosum, complementation group C; XPC" RELATED [OMIM:278720]
synonym: "xeroderma pigmentosum, complementation group type C" EXACT [MONDORULE:1, OMIM:278720]
synonym: "xeroderma pigmentosum, type 3" RELATED [GARD:0005626]
synonym: "XP group C" EXACT [DOID:0110844]
synonym: "XP, Group C" RELATED [OMIM:278720]
synonym: "XP-C" EXACT [NCIT:C114770]
synonym: "XP3" EXACT [DOID:0110844]
synonym: "XPC" EXACT [DOID:0110844, MONDO:Lexical, OMIM:278720]
synonym: "XPCC" EXACT [DOID:0110844, OMIM:278720]
xref: DOID:0110844 {source="MONDO:equivalentTo"}
xref: GARD:0005626 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110844"}
xref: MESH:C567886 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C114770 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo"}
xref: OMIM:278720 {source="DOID:0110844", source="MONDO:equivalentTo"}
xref: Orphanet:276255 {source="MONDO:obsoleteEquivalent", source="OMIM:278720"}
xref: SCTID:25784009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.68"}
xref: UMLS:C2752147 {source="NCBI:mim2gene_medline", source="NCIT:C114770", source="MONDO:equivalentTo", source="OMIM:278720"}
is_a: MONDO:0019600 {source="DC-OMIM:278720", source="DOID:0110844", source="MESH:C567886", source="NCIT:C114770", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: exactMatch DOID:0110844
property_value: exactMatch http://identifiers.org/mesh/C567886
property_value: exactMatch http://identifiers.org/omim/278720
property_value: exactMatch http://identifiers.org/snomedct/25784009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752147
property_value: exactMatch NCIT:C114770
property_value: exactMatch Orphanet:276255

[Term]
id: MONDO:0010212
name: xeroderma pigmentosum group D
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730]
synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group type D" EXACT [DOID:0110845, MONDORULE:1]
synonym: "xeroderma pigmentosum IV" EXACT [DOID:0110845]
synonym: "xeroderma pigmentosum VIII" EXACT [DOID:0110845]
synonym: "xeroderma pigmentosum, complementation group D" RELATED [MONDO:Lexical, OMIM:278730]
synonym: "xeroderma pigmentosum, complementation group D; XPD" RELATED [OMIM:278730]
synonym: "xeroderma pigmentosum, complementation group type D" EXACT [MONDORULE:1, OMIM:278730]
synonym: "XP group D" EXACT [DOID:0110845]
synonym: "XP group H" EXACT [DOID:0110845]
synonym: "XP, Group D" RELATED [OMIM:278730]
synonym: "XP, Group H" RELATED [OMIM:278730]
synonym: "XP, Group H, formerly" RELATED [OMIM:278730]
synonym: "XP-D" EXACT [NCIT:C3967]
synonym: "XP4" EXACT [DOID:0110845]
synonym: "XP4 xeroderma pigmentosum VIII" RELATED [OMIM:278730]
synonym: "XP4 xeroderma pigmentosum VIII, formerly" RELATED [OMIM:278730]
synonym: "XP8" EXACT [DOID:0110845]
synonym: "XPD" EXACT [DOID:0110845, MONDO:Lexical, OMIM:278730]
synonym: "XPDC" EXACT [DOID:0110845]
synonym: "XPH" EXACT [DOID:0110845]
xref: DOID:0110845 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110845"}
xref: MESH:C562591 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3967 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/23.59"}
xref: OMIM:278730 {source="DOID:0110845", source="MONDO:equivalentTo"}
xref: Orphanet:276258 {source="MONDO:obsoleteEquivalent", source="OMIM:278730"}
xref: SCTID:68637004 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"}
is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278730", source="DOID:0110845", source="MESH:C562591", source="MONDO:Redundant", source="NCIT:C3967", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268138
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848412
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848413
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848414
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848415
property_value: exactMatch DOID:0110845
property_value: exactMatch http://identifiers.org/mesh/C562591
property_value: exactMatch http://identifiers.org/omim/278730
property_value: exactMatch http://identifiers.org/snomedct/68637004
property_value: exactMatch NCIT:C3967
property_value: exactMatch Orphanet:276258

[Term]
id: MONDO:0010213
name: xeroderma pigmentosum group E
def: "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." [NCIT:C114771]
subset: gard_rare
synonym: "xeroderma pigmentosum 5" RELATED [OMIM:278740]
synonym: "xeroderma pigmentosum group type E" EXACT [DOID:0110846, MONDORULE:1]
synonym: "xeroderma pigmentosum V" EXACT [DOID:0110846]
synonym: "xeroderma pigmentosum, complementation group E" RELATED [OMIM:278740]
synonym: "xeroderma pigmentosum, complementation group type E" EXACT [MONDORULE:1, OMIM:278740]
synonym: "xeroderma pigmentosum, type 5" RELATED [GARD:0005627]
synonym: "XP group E" EXACT [DOID:0110846]
synonym: "XP, Group E" RELATED [OMIM:278740]
synonym: "XP-E" EXACT [NCIT:C114771]
synonym: "XP5" EXACT [DOID:0110846]
synonym: "XPE" EXACT [DOID:0110846]
synonym: "XPe" RELATED [OMIM:278740]
xref: DOID:0110846 {source="MONDO:equivalentTo"}
xref: GARD:0005627 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110846"}
xref: MESH:C564732 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C114771 {source="MONDO:kboom-pr-1.00/0.90/23.65", source="MONDO:equivalentTo"}
xref: OMIM:278740 {source="DOID:0110846", source="MONDO:equivalentTo"}
xref: Orphanet:276261 {source="MONDO:obsoleteEquivalent", source="OMIM:278740"}
xref: SCTID:56048001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.68"}
xref: UMLS:C1848411 {source="NCIT:C114771", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278740"}
is_a: MONDO:0019600 {source="DC-OMIM:278740", source="DOID:0110846", source="MESH:C564732", source="NCIT:C114771", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: exactMatch DOID:0110846
property_value: exactMatch http://identifiers.org/mesh/C564732
property_value: exactMatch http://identifiers.org/omim/278740
property_value: exactMatch http://identifiers.org/snomedct/56048001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848411
property_value: exactMatch NCIT:C114771
property_value: exactMatch Orphanet:276261

[Term]
id: MONDO:0010214
name: xeroderma pigmentosum variant type
def: "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." [Orphanet:90342]
subset: gard_rare {source="GARD:0005630"}
subset: ordo_disease {source="Orphanet:90342"}
synonym: "photosensitivity with defective DNA synthesis" EXACT [DOID:0110847, OMIM:278750]
synonym: "xeroderma pigmentosum variant" RELATED [Orphanet:90342]
synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [DOID:0110847]
synonym: "xeroderma pigmentosum with normal DNA repair rates" RELATED [OMIM:278750]
synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:278750]
synonym: "xeroderma pigmentosum, variant type; XPV" RELATED [OMIM:278750]
synonym: "XPV" EXACT [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342]
xref: DOID:0110847 {source="MONDO:equivalentTo"}
xref: GARD:0005630 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110847", source="Orphanet:90342", source="ORDO:90342/attributed", source="ORDO:90342/ntbt"}
xref: MESH:C536766 {source="ORDO:90342/e", source="MONDO:equivalentTo", source="Orphanet:90342", source="MONDO:ontobio"}
xref: NCIT:C141367 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:278750 {source="ORDO:90342/e", source="MONDO:equivalentTo", source="DOID:0110847", source="Orphanet:90342"}
xref: Orphanet:90342 {source="MONDO:equivalentTo", source="OMIM:278750"}
xref: UMLS:C1848410 {source="MEDGEN:kboom-pr98-c99", source="ORDO:90342/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278750", source="Orphanet:90342"}
is_a: MONDO:0019600 {source="DC-OMIM:278750", source="DOID:0110847", source="MESH:C536766", source="NCIT:C141367", source="Orphanet:90342"} ! xeroderma pigmentosum
property_value: exactMatch DOID:0110847
property_value: exactMatch http://identifiers.org/mesh/C536766
property_value: exactMatch http://identifiers.org/omim/278750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848410
property_value: exactMatch NCIT:C141367
property_value: exactMatch Orphanet:90342
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type xsd:anyURI {source="GARD:0005630"}

[Term]
id: MONDO:0010215
name: xeroderma pigmentosum group F
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760]
synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group type F" EXACT [DOID:0110848, MONDORULE:1]
synonym: "xeroderma pigmentosum VI" EXACT [DOID:0110848]
synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical, OMIM:278760]
synonym: "xeroderma pigmentosum, complementation group F; XPF" RELATED [OMIM:278760]
synonym: "xeroderma pigmentosum, complementation group type F" EXACT [MONDORULE:1, OMIM:278760]
synonym: "xeroderma pigmentosum, type 6" RELATED [GARD:0005628]
synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" RELATED [OMIM:278760]
synonym: "XP group F" EXACT [DOID:0110848, OMIM:278760]
synonym: "XP, group F" EXACT [OMIM:278760]
synonym: "XP-F" EXACT [NCIT:C3968]
synonym: "XP6" EXACT [DOID:0110848]
synonym: "XPF" EXACT [DOID:0110848, MONDO:Lexical, OMIM:278760]
xref: DOID:0110848 {source="MONDO:equivalentTo"}
xref: GARD:0005628 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110848"}
xref: MESH:C562592 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3968 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/23.59"}
xref: OMIM:278760 {source="DOID:0110848", source="MONDO:equivalentTo"}
xref: Orphanet:276264 {source="MONDO:obsoleteEquivalent", source="OMIM:278760"}
xref: SCTID:42530008 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"}
is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278760", source="DOID:0110848", source="MESH:C562592", source="MONDO:Redundant", source="NCIT:C3968", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268140
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806565
property_value: exactMatch DOID:0110848
property_value: exactMatch http://identifiers.org/mesh/C562592
property_value: exactMatch http://identifiers.org/omim/278760
property_value: exactMatch http://identifiers.org/snomedct/42530008
property_value: exactMatch NCIT:C3968
property_value: exactMatch Orphanet:276264

[Term]
id: MONDO:0010216
name: xeroderma pigmentosum group G
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." [MONDO:patterns/disease_series_by_gene]
comment: placement based on OMIM phenotypic series 214150. {source="OMIM:278780"}
synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780]
synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum complementation group G" RELATED [GARD:0005629]
synonym: "xeroderma pigmentosum group type G" EXACT [DOID:0110849, MONDORULE:1]
synonym: "xeroderma pigmentosum type 7" RELATED [GARD:0005629]
synonym: "xeroderma pigmentosum VII" EXACT [DOID:0110849]
synonym: "xeroderma pigmentosum, complementation group G" RELATED [MONDO:Lexical, OMIM:278780]
synonym: "xeroderma pigmentosum, complementation group G; XPG" RELATED [OMIM:278780]
synonym: "xeroderma pigmentosum, complementation group type G" EXACT [MONDORULE:1, OMIM:278780]
synonym: "xeroderma pigmentosum, type G/Cockayne syndrome" RELATED [OMIM:278780]
synonym: "XP group G" EXACT [DOID:0110849]
synonym: "XP, Group G" RELATED [OMIM:278780]
synonym: "XP-G" EXACT [NCIT:C3969]
synonym: "XP7" EXACT [DOID:0110849]
synonym: "XPG" EXACT [DOID:0110849, MONDO:Lexical, OMIM:278780]
xref: DOID:0110849 {source="MONDO:equivalentTo"}
xref: GARD:0005629 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110849"}
xref: MESH:C562593 {source="MONDO:equivalentTo"}
xref: NCIT:C3969 {source="MONDO:kboom-pr-1.00/0.90/23.56", source="MONDO:equivalentTo"}
xref: OMIM:278780 {source="MONDO:equivalentTo", source="DOID:0110849"}
xref: Orphanet:276267 {source="OMIM:278780", source="MONDO:obsoleteEquivalent"}
xref: SCTID:36454001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.18"}
xref: UMLS:C0268141 {source="NCIT:C3969", source="OMIM:278780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008926 {source="DC-OMIM:278780"} ! COFS syndrome
is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MESH:C562593", source="MONDO:Redundant", source="NCIT:C3969", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968561
property_value: exactMatch DOID:0110849
property_value: exactMatch http://identifiers.org/mesh/C562593
property_value: exactMatch http://identifiers.org/omim/278780
property_value: exactMatch http://identifiers.org/snomedct/36454001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268141
property_value: exactMatch NCIT:C3969
property_value: exactMatch Orphanet:276267

[Term]
id: MONDO:0010217
name: de Sanctis-Cacchione syndrome
def: "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." [NCIT:C84666]
subset: gard_rare {source="GARD:0008276"}
synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800]
synonym: "xerodermic idiocy" RELATED [GARD:0008276]
xref: GARD:0008276 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535992 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84666 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:278800 {source="MONDO:equivalentTo"}
xref: Orphanet:1569 {source="MONDO:equivalentTo", source="OMIM:278800"}
xref: SCTID:414673004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265201 {source="NCIT:C84666", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278800"}
xref: UMLS:CN199649 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0010217", source="NCIT:C84666"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C535992/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535992
property_value: exactMatch http://identifiers.org/omim/278800
property_value: exactMatch http://identifiers.org/snomedct/414673004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199649
property_value: exactMatch NCIT:C84666
property_value: exactMatch Orphanet:1569
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome xsd:anyURI {source="GARD:0008276"}

[Term]
id: MONDO:0010218
name: 46,XX sex reversal 2
synonym: "46,XX sex reversal 2" EXACT [MONDO:Lexical, OMIM:278850]
synonym: "46,XX SEX reversal 2; SRXX2" RELATED [OMIM:278850]
synonym: "46,XX Sex reversal type 2" EXACT [MONDORULE:1, OMIM:278850]
synonym: "chromosome 17Q24 Duplication syndrome" RELATED [OMIM:278850]
synonym: "SRXX2" RELATED [MONDO:Lexical, OMIM:278850]
xref: OMIM:278850 {source="MONDO:equivalentTo"}
xref: UMLS:C2749215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278850"}
is_a: MONDO:0010766 {source="MONDOLEX:0010218", source="ORDO:393/btnt"} ! 46,XX testicular disorder of sex development
property_value: exactMatch http://identifiers.org/omim/278850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749215

[Term]
id: MONDO:0010219
name: xylosidase deficiency
synonym: "xylosidase deficiency" EXACT [OMIM:278900]
xref: MESH:C564730 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:278900 {source="MONDO:equivalentTo"}
xref: UMLS:C1848407 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278900"}
is_a: MONDO:0003847 {source="MESH:C564730/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564730
property_value: exactMatch http://identifiers.org/omim/278900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848407

[Term]
id: MONDO:0010220
name: Young syndrome
def: "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." [Orphanet:3471]
subset: gard_rare {source="GARD:0000341"}
subset: ordo_disease {source="Orphanet:3471"}
synonym: "azoospermia obstructive and chronic sinopulmonary infections" RELATED [GARD:0000341]
synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [OMIM:279000]
synonym: "azoospermia-sinopulmonary infections syndrome" EXACT [Orphanet:3471]
synonym: "Barry Perkins Young syndrome" RELATED [GARD:0000341]
synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000]
synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000]
synonym: "young syndrome" EXACT [OMIM:279000]
xref: GARD:0000341 {source="MONDO:equivalentTo"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:3471", source="ORDO:3471/attributed", source="ORDO:3471/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063689 {source="Orphanet:3471", source="ORDO:3471/e"}
xref: MESH:C536718 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3471", source="ORDO:3471/e"}
xref: OMIM:279000 {source="MONDO:equivalentTo", source="Orphanet:3471", source="ORDO:3471/e"}
xref: Orphanet:3471 {source="OMIM:279000", source="MONDO:equivalentTo"}
xref: SCTID:233666007 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo"}
xref: UMLS:C0340037 {source="OMIM:279000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3471", source="ORDO:3471/e"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:3471"} ! respiratory system disease
is_a: MONDO:0018396 {source="Orphanet:3471"} ! rare male fertility disorder with obstructive azoospermia
is_a: MONDO:0018409 {source="Orphanet:3471"} ! rare genetic disorder with obstructive azoospermia
property_value: exactMatch http://identifiers.org/meddra/10063689
property_value: exactMatch http://identifiers.org/mesh/C536718
property_value: exactMatch http://identifiers.org/omim/279000
property_value: exactMatch http://identifiers.org/snomedct/233666007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340037
property_value: exactMatch Orphanet:3471
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/341/young-syndrome xsd:anyURI {source="GARD:0000341"}

[Term]
id: MONDO:0010221
name: CHIME syndrome
def: "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." [Orphanet:3474]
subset: ordo_malformation_syndrome {source="Orphanet:3474"}
synonym: "CHIME" RELATED [MONDO:Lexical, OMIM:280000]
synonym: "CHIME syndrome" EXACT [OMIM:280000]
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" RELATED [MONDO:Lexical, OMIM:280000]
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; CHIME" RELATED [OMIM:280000]
synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [Orphanet:3474]
synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [Orphanet:3474]
synonym: "glycosylphosphatidylinositol biosynthesis defect 5" RELATED [OMIM:280000]
synonym: "neuroectodermal dysplasia, CHIME type" EXACT [Orphanet:3474]
synonym: "neuroectodermal syndrome, Zunich type" EXACT [Orphanet:3474]
synonym: "PIGL-CDG" EXACT [Orphanet:3474]
synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000]
synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474]
xref: GARD:0000310 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3474", source="ORDO:3474/attributed", source="ORDO:3474/ntbt"}
xref: MESH:C536729 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="ORDO:3474/e"}
xref: Orphanet:3474 {source="MONDO:equivalentTo", source="OMIM:280000"}
xref: SCTID:720639008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.23"}
xref: UMLS:C1848392 {source="Orphanet:3474", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:280000"}
is_a: MONDO:0015159 {source="Orphanet:3474"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3474"} ! syndromic developmental defect of the eye
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:3474"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018286 {source="Orphanet:3474"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:3474"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018290 {source="Orphanet:3474"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0018293 {source="Orphanet:3474"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0018295 {source="Orphanet:3474"} ! congenital disorder of glycosylation with deafness as a major feature
is_a: MONDO:0019287 {source="MESH:C536729/inferred", source="MONDOLEX:0010221", source="Orphanet:3474", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020149 {source="Orphanet:3474"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536729
property_value: exactMatch http://identifiers.org/omim/280000
property_value: exactMatch http://identifiers.org/snomedct/720639008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848392
property_value: exactMatch Orphanet:3474

[Term]
id: MONDO:0010222
name: X-linked Opitz G/BBB syndrome
def: "X-linked form of Opitz G/BBB syndrome." [MONDO:patterns/x_linked]
subset: ordo_etiological_subtype {source="Orphanet:306597"}
synonym: "GBBB1" RELATED [MONDO:Lexical, OMIM:300000]
synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:300000]
synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:300000]
synonym: "Opitz Bbbg syndrome, type 1" RELATED [OMIM:300000]
synonym: "Opitz G/BBB syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "Opitz GBBB syndrome, type 1" RELATED [OMIM:300000]
synonym: "Opitz GBBB syndrome, type I" RELATED [MONDO:Lexical, OMIM:300000]
synonym: "Opitz GBBB syndrome, type I; GBBB1" RELATED [OMIM:300000]
synonym: "Opitz GBBB syndrome, X-linked" RELATED [OMIM:300000]
synonym: "Opitz syndrome" RELATED [OMIM:300000]
synonym: "Opitz syndrome, X-linked" RELATED [OMIM:300000]
synonym: "Opitz-G syndrome, type 1" RELATED [OMIM:300000]
synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:300000]
synonym: "X-linked Opitz BBB/G syndrome" EXACT [Orphanet:306597]
synonym: "X-linked Opitz syndrome" EXACT [Orphanet:306597]
synonym: "XLOS" EXACT [Orphanet:306597]
xref: ICD10:Q87.8 {source="ORDO:306597/attributed", source="ORDO:306597/ntbt", source="Orphanet:306597"}
xref: OMIM:300000 {source="MONDO:equivalentTo", source="ORDO:306597/e", source="Orphanet:306597"}
xref: Orphanet:306597 {source="OMIM:300000", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0017138 {source="DC-OMIM:300000", source="MONDO:Redundant", source="MONDOLEX:0010222", source="OMIM:300000", source="Orphanet:306597"} ! Opitz G/BBB syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175696
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936904
property_value: exactMatch http://identifiers.org/omim/300000
property_value: exactMatch Orphanet:306597

[Term]
id: MONDO:0010223
name: ichthyosis, X-linked, without steroid sulfatase deficiency
synonym: "ichthyosis, X-linked, without steroid sulfatase deficiency" EXACT [OMIM:300001]
xref: MESH:C564729 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300001 {source="MONDO:equivalentTo"}
xref: UMLS:C1848387 {source="OMIM:300001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010622 {source="ORDO:461/btnt"} ! recessive X-linked ichthyosis
property_value: exactMatch http://identifiers.org/mesh/C564729
property_value: exactMatch http://identifiers.org/omim/300001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848387

[Term]
id: MONDO:0010224
name: corpus callosum agenesis-abnormal genitalia syndrome
def: "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." [Orphanet:2508]
subset: ordo_malformation_syndrome {source="Orphanet:2508"}
synonym: "ACC with abnormal genitalia" RELATED [OMIM:300004]
synonym: "ACC-abnormal genitalia syndrome" EXACT [Orphanet:2508]
synonym: "corpus callosum, agenesis of, with abnormal genitalia" RELATED [OMIM:300004]
synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [Orphanet:2508]
synonym: "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum" RELATED [GARD:0004528]
synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528]
synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508]
synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508]
xref: GARD:0004528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2508", source="ORDO:2508/attributed", source="ORDO:2508/ntbt"}
xref: MESH:C563110 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300004 {source="MONDO:equivalentTo", source="Orphanet:2508", source="ORDO:2508/e"}
xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"}
xref: SCTID:763797003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300004", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018496 {source="Orphanet:2508"} ! ARX-related encephalopathy-brain malformation spectrum
property_value: exactMatch http://identifiers.org/mesh/C563110
property_value: exactMatch http://identifiers.org/omim/300004
property_value: exactMatch http://identifiers.org/snomedct/763797003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796124
property_value: exactMatch Orphanet:2508

[Term]
id: MONDO:0010225
name: Dent disease type 1
def: "Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." [Orphanet:93622]
subset: ordo_clinical_subtype {source="Orphanet:93622"}
synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DENT disease 1" RELATED [OMIM:300009]
synonym: "Dent disease caused by mutation in CLCN5" EXACT [MONDO:design_pattern]
synonym: "Dent disease type 1" EXACT [MONDORULE:1, OMIM:300009]
synonym: "nephrolithiasis 2" RELATED [OMIM:300009]
synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622]
synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009]
synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009]
xref: ICD10:N25.8 {source="ORDO:93622/attributed", source="ORDO:93622/ntbt", source="Orphanet:93622"}
xref: OMIM:300009 {source="ORDO:93622/e", source="MONDO:equivalentTo", source="Orphanet:93622"}
xref: Orphanet:93622 {source="MONDO:equivalentTo", source="OMIM:300009"}
xref: SCTID:717789008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4305530 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206679 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015612 {source="DC-OMIM:300009", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622", source="linkedlifedata"} ! Dent disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403720
property_value: exactMatch http://identifiers.org/mesh/C538212
property_value: exactMatch http://identifiers.org/omim/300009
property_value: exactMatch http://identifiers.org/snomedct/717789008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206679
property_value: exactMatch Orphanet:93622

[Term]
id: MONDO:0010226
name: 46,XY sex reversal 2
synonym: "46,XY sex reversal 2" EXACT [MONDO:Lexical, OMIM:300018]
synonym: "46,XY SEX reversal 2; SRXY2" RELATED [OMIM:300018]
synonym: "46,XY Sex reversal type 2" EXACT [MONDORULE:1, OMIM:300018]
synonym: "46,XY Sex reversal, Dax1-related" RELATED [OMIM:300018]
synonym: "dosage-sensitive Sex reversal" RELATED [OMIM:300018]
synonym: "SRXY2" RELATED [MONDO:Lexical, OMIM:300018]
xref: MESH:C535601 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300018 {source="MONDO:equivalentTo"}
xref: UMLS:C1848296 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300018"}
is_a: MONDO:0010765 {source="MONDOLEX:0010226", source="OMIM:300018", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/mesh/C535601
property_value: exactMatch http://identifiers.org/omim/300018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848296

[Term]
id: MONDO:0010227
name: retinitis pigmentosa 3
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Choroidoretinal Degeneration with retinal reflex in heterozygous Women" RELATED [OMIM:300029]
synonym: "cone-rod Degeneration, X-linked" RELATED [OMIM:300029]
synonym: "retinitis pigmentosa 15" RELATED [OMIM:300029]
synonym: "retinitis pigmentosa 3" EXACT [MONDO:Lexical, OMIM:300029]
synonym: "retinitis pigmentosa 3; RP3" RELATED [OMIM:300029]
synonym: "retinitis pigmentosa caused by mutation in RPGR" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 3" EXACT [DOID:0110414, MONDORULE:1, OMIM:300029]
synonym: "RP3" EXACT [DOID:0110414, MONDO:Lexical, OMIM:300029]
synonym: "RPGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110414 {source="MONDO:equivalentTo"}
xref: GARD:0010381 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110414", source="MONDO:relatedTo"}
xref: MESH:C564520 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300029 {source="DOID:0110414", source="MONDO:equivalentTo"}
xref: UMLS:C1845667 {source="MONDO:equivalentTo", source="OMIM:300029"}
is_a: MONDO:0019200 {source="DC-OMIM:300029", source="DOID:0110414", source="MESH:C564520", source="MONDO:Redundant", source="OMIM:300029"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848295
property_value: exactMatch DOID:0110414
property_value: exactMatch http://identifiers.org/mesh/C564520
property_value: exactMatch http://identifiers.org/omim/300029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845667

[Term]
id: MONDO:0010228
name: DFNX3
subset: gard_rare
synonym: "deafness X-linked, DFN3" RELATED [GARD:0001707]
synonym: "deafness, X-linked 3" RELATED [MONDO:Lexical, OMIM:300030]
synonym: "deafness, X-linked 3; DFNX3" RELATED [OMIM:300030]
synonym: "deafness, X-linked 4, congenital sensorineural" RELATED [OMIM:300030]
synonym: "DFNX3" EXACT [MONDO:Lexical, OMIM:300030]
xref: GARD:0001707 {source="MONDO:equivalentTo"}
xref: MESH:C564727 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300030 {source="MONDO:equivalentTo"}
is_a: MONDO:0019586 {source="DC-OMIM:300030", source="OMIM:300030"} ! X-linked nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848294
property_value: exactMatch http://identifiers.org/mesh/C564727
property_value: exactMatch http://identifiers.org/omim/300030

[Term]
id: MONDO:0010229
name: alopecia, congenital
def: "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." [NCIT:C35790]
synonym: "alopecia, congenital" EXACT [MONDO:Lexical, OMIM:300042]
synonym: "alopecia, congenital; ALPC" RELATED [OMIM:300042]
synonym: "ALPC" RELATED [MONDO:Lexical, OMIM:300042]
synonym: "congenital alopecia" EXACT [NCIT:C35790]
xref: MESH:C535981 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35790 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: OMIM:300042 {source="MONDO:equivalentTo"}
xref: SCTID:2965006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
is_a: MONDO:0000005 {source="OMIM:300042"} ! alopecia, isolated
is_a: MONDO:0019080 {source="ORDO:700/btnt"} ! alopecia totalis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265992
property_value: exactMatch http://identifiers.org/mesh/C535981
property_value: exactMatch http://identifiers.org/omim/300042
property_value: exactMatch http://identifiers.org/snomedct/2965006
property_value: exactMatch NCIT:C35790

[Term]
id: MONDO:0010230
name: MRX23
synonym: "mental retardation, X-linked 23" RELATED [MONDO:Lexical, OMIM:300046]
synonym: "mental retardation, X-linked 23; MRX23" RELATED [OMIM:300046]
synonym: "MRX23" EXACT [MONDO:Lexical, OMIM:300046]
xref: MESH:C563144 {source="MONDO:equivalentTo"}
xref: OMIM:300046 {source="MONDO:equivalentTo"}
xref: UMLS:C0796229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300046"}
is_a: MONDO:0019181 {source="DC-OMIM:300046", source="OMIM:300046"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563144
property_value: exactMatch http://identifiers.org/omim/300046
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796229

[Term]
id: MONDO:0010231
name: MRX20
synonym: "mental retardation, X-linked 20" RELATED [MONDO:Lexical, OMIM:300047]
synonym: "mental retardation, X-linked 20; MRX20" RELATED [OMIM:300047]
synonym: "MRX20" EXACT [MONDO:Lexical, OMIM:300047]
xref: MESH:C563142 {source="MONDO:equivalentTo"}
xref: OMIM:300047 {source="MONDO:equivalentTo"}
xref: UMLS:C0796226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300047"}
is_a: MONDO:0019181 {source="DC-OMIM:300047", source="OMIM:300047"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563142
property_value: exactMatch http://identifiers.org/omim/300047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796226

[Term]
id: MONDO:0010232
name: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
def: "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene , other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome . There is no specific treatment but several medications and procedures may be used to treat the symptoms." [https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked]
subset: gard_rare {source="GARD:0003017"}
synonym: "CIIP" RELATED [GARD:0003017]
synonym: "CIIP X-linked" RELATED [GARD:0003017]
synonym: "Ciip, X-linked" RELATED [OMIM:300048]
synonym: "CIIPX" RELATED [GARD:0003017]
synonym: "congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:300048]
synonym: "congenital short bowel syndrome, X-linked" RELATED [OMIM:300048]
synonym: "intestinal pseudoobstruction neuronal chronic idiopathic X-linked" RELATED [GARD:0003017]
synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement" RELATED [OMIM:300048]
synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" EXACT [OMIM:300048]
synonym: "Ipox" RELATED [OMIM:300048]
xref: GARD:0003017 {source="MONDO:equivalentTo"}
xref: MESH:C535532 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300048 {source="MONDO:equivalentTo"}
is_a: MONDO:0014097 {source="ORDO:2301/btnt"} ! congenital short bowel syndrome
is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848221
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2746068
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806579
property_value: exactMatch http://identifiers.org/mesh/C535532
property_value: exactMatch http://identifiers.org/omim/300048
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked xsd:anyURI {source="GARD:0003017"}

[Term]
id: MONDO:0010233
name: heterotopia, periventricular, X-linked dominant
synonym: "bilateral periventricular nodular heterotopia" RELATED [GARD:0007371]
synonym: "BPNH" RELATED [GARD:0007371]
synonym: "heterotopia familial nodular" RELATED [GARD:0007371]
synonym: "heterotopia periventricular X-linked dominant" RELATED [GARD:0007371]
synonym: "heterotopia, familial nodular" RELATED [OMIM:300049]
synonym: "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" RELATED [OMIM:300049]
synonym: "heterotopia, periventricular, Ehlers-Danlos variant" EXACT [OMIM:300049]
synonym: "heterotopia, periventricular, X-linked dominant" EXACT [OMIM:300049]
synonym: "NHBP" RELATED [GARD:0007371]
synonym: "nodular heterotopia bilateral periventricular" RELATED [GARD:0007371]
synonym: "nodular heterotopia, bilateral periventricular" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 1" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 1; PVNH1" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 4" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 4, formerly" RELATED [OMIM:300049]
synonym: "PVNH1" RELATED [GARD:0007371, OMIM:300049]
synonym: "X-linked periventricular heterotopia" RELATED [GARD:0007371]
xref: GARD:0007371 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:300049 {source="MONDO:equivalentTo"}
xref: SCTID:448227009 {source="MONDO:equivalentTo"}
is_a: MONDO:0020341 {source="DC-OMIM:300049", source="MONDOLEX:0010233"} ! periventricular nodular heterotopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848213
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848214
property_value: exactMatch http://identifiers.org/omim/300049
property_value: exactMatch http://identifiers.org/snomedct/448227009

[Term]
id: MONDO:0010234
name: obsolete body length, mouse, human homolog
synonym: "body length, mouse, HUMAN homolog" RELATED [OMIM:300054]
property_value: closeMatch http://identifiers.org/omim/300054
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848212
is_obsolete: true

[Term]
id: MONDO:0010235
name: X-linked intellectual disability-psychosis-macroorchidism syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3077"}
synonym: "intellectual deficit, X-linked - psychosis - macroorchidism" RELATED [GARD:0003506]
synonym: "Lindsay-Burn syndrome" EXACT [DOID:0060827, Orphanet:3077]
synonym: "mental retardation psychosis macroorchidism" RELATED [GARD:0003506]
synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT [DOID:0060827]
synonym: "mental retardation, X-linked 16" RELATED [OMIM:300055]
synonym: "mental retardation, X-linked 79" RELATED [OMIM:300055]
synonym: "mental retardation, X-linked, syndromic 13" EXACT [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055]
synonym: "mental retardation, X-linked, syndromic 13; MRXS13" RELATED [OMIM:300055]
synonym: "mental retardation, X-linked, syndromic type 13" EXACT [MONDORULE:2, OMIM:300055]
synonym: "mental retardation, X-linked, with spasticity" RELATED [OMIM:300055]
synonym: "MRXS13" EXACT [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055]
synonym: "PPM-X" EXACT [DOID:0060827, Orphanet:3077]
synonym: "PPM-X syndrome" RELATED [GARD:0003506]
synonym: "X-linked mental retardation 79" EXACT [DOID:0060827]
synonym: "X-linked mental retardation with spasticity" EXACT [DOID:0060827]
xref: DOID:0060827 {source="MONDO:equivalentTo"}
xref: GARD:0003506 {source="MONDO:equivalentTo"}
xref: ICD10:F71.1 {source="ORDO:3077/attributed", source="ORDO:3077/ntbt", source="Orphanet:3077", source="DOID:0060827"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:300055 {source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827", source="ORDO:3077/e"}
xref: Orphanet:3077 {source="OMIM:300055", source="MONDO:equivalentTo", source="GARD:0003506", source="DOID:0060827"}
xref: SCTID:702356009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0020119 {source="DC-OMIM:300055", source="DOID:0060827", source="OMIM:300055", source="Orphanet:3077"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796222
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848211
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968550
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968551
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968552
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3713418
property_value: exactMatch DOID:0060827
property_value: exactMatch http://identifiers.org/omim/300055
property_value: exactMatch http://identifiers.org/snomedct/702356009
property_value: exactMatch Orphanet:3077
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome xsd:anyURI {source="GARD:0003506"}

[Term]
id: MONDO:0010236
name: MRX14
synonym: "mental retardation, X-linked 14" RELATED [MONDO:Lexical, OMIM:300062]
synonym: "mental retardation, X-linked 14; MRX14" RELATED [OMIM:300062]
synonym: "mental retardation, X-linked nonspecific, type 14" RELATED [GARD:0008557]
synonym: "MRX14" EXACT [MONDO:Lexical, OMIM:300062]
xref: GARD:0008557 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537454 {source="MONDO:equivalentTo"}
xref: OMIM:300062 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300062", source="OMIM:300062"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796220
property_value: exactMatch http://identifiers.org/mesh/C537454
property_value: exactMatch http://identifiers.org/omim/300062

[Term]
id: MONDO:0010237
name: X-linked intellectual disability-plagiocephaly syndrome
def: "X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." [Orphanet:2898]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2898"}
synonym: "Hyde Forster McCarthy Berry syndrome" RELATED [GARD:0002765]
synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898]
synonym: "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED [GARD:0004377]
synonym: "mental retardation, X-linked Hyde-Forster type" RELATED [GARD:0004377]
synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED [OMIM:300064]
synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED [OMIM:300064]
synonym: "plagiocephaly and X-linked mental retardation" RELATED [GARD:0004377]
xref: GARD:0002765 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0004377 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:2898/attributed", source="ORDO:2898/ntbt", source="Orphanet:2898"}
xref: MESH:C537512 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="ORDO:2898/e"}
xref: Orphanet:2898 {source="OMIM:300064", source="MONDO:equivalentTo"}
xref: SCTID:719812008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931516 {source="OMIM:300064", source="MONDO:equivalentTo", source="Orphanet:2898", source="ORDO:2898/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2898"} ! syndromic craniosynostosis
is_a: MONDO:0020119 {source="Orphanet:2898"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848205
property_value: exactMatch http://identifiers.org/mesh/C537512
property_value: exactMatch http://identifiers.org/omim/300064
property_value: exactMatch http://identifiers.org/snomedct/719812008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931516
property_value: exactMatch Orphanet:2898

[Term]
id: MONDO:0010238
name: deafness, X-linked 4
def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "deafness, nonsyndromic sensorineural progressive 6" RELATED [OMIM:300066]
synonym: "deafness, X-linked 4" EXACT [MONDO:Lexical, OMIM:300066]
synonym: "deafness, X-linked 4; DFNX4" RELATED [OMIM:300066]
synonym: "deafness, X-linked 6, progressive" RELATED [OMIM:300066]
synonym: "deafness, X-linked type 4" EXACT [MONDORULE:1, OMIM:300066]
synonym: "DFNX4" RELATED [MONDO:Lexical, OMIM:300066]
synonym: "SMPX X-linked nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked nonsyndromic deafness caused by mutation in SMPX" EXACT [MONDO:design_pattern]
xref: MESH:C564723 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300066 {source="MONDO:equivalentTo"}
xref: UMLS:C1848204 {source="NCBI:mim2gene_medline", source="OMIM:300066", source="MONDO:equivalentTo"}
is_a: MONDO:0019586 {source="DC-OMIM:300066", source="MONDO:Redundant", source="OMIM:300066"} ! X-linked nonsyndromic deafness
property_value: exactMatch http://identifiers.org/mesh/C564723
property_value: exactMatch http://identifiers.org/omim/300066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848204

[Term]
id: MONDO:0010239
name: lissencephaly type 1 due to doublecortin gene mutation
def: "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients." [Orphanet:2148]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2148"}
synonym: "Dc syndrome" RELATED [OMIM:300067]
synonym: "Double cortex syndrome" RELATED [OMIM:300067]
synonym: "lissencephaly and agenesis of corpus callosum" RELATED [GARD:0006914, OMIM:300067]
synonym: "lissencephaly X-linked" RELATED [GARD:0006914]
synonym: "lissencephaly, X-linked, 1" RELATED [MONDO:Lexical, OMIM:300067]
synonym: "lissencephaly, X-linked, 1; LISX1" RELATED [OMIM:300067]
synonym: "lissencephaly, X-linked, type 1" EXACT [MONDORULE:1, OMIM:300067]
synonym: "LISX" RELATED [GARD:0006914]
synonym: "LISX1" RELATED [MONDO:Lexical, OMIM:300067]
synonym: "subcortical band heterotopia, X-linked" RELATED [OMIM:300067]
synonym: "subcortical laminar heterotopia, X-linked" RELATED [OMIM:300067]
synonym: "subcortical laminar heterotopia, X-linked," RELATED [GARD:0006914]
synonym: "X-linked lissencephaly" RELATED [GARD:0006914]
synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148]
synonym: "XLIS" RELATED [GARD:0006914]
synonym: "Xlis" RELATED [OMIM:300067]
xref: GARD:0006914 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:2148", source="ORDO:2148/attributed", source="ORDO:2148/ntbt"}
xref: OMIM:300067 {source="Orphanet:2148", source="ORDO:2148/e", source="GARD:0006914", source="MONDO:equivalentTo"}
xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"}
xref: SCTID:715780008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1848199 {source="OMIM:300067", source="Orphanet:2148", source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4275012 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015146 {source="MONDOLEX:0010239", source="Orphanet:2148"} ! classic lissencephaly
is_a: MONDO:0020119 {source="Orphanet:2148"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020491 {source="MONDOLEX:0010239"} ! subcortical band heterotopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848070
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848200
property_value: exactMatch http://identifiers.org/omim/300067
property_value: exactMatch http://identifiers.org/snomedct/715780008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275012
property_value: exactMatch Orphanet:2148
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked xsd:anyURI {source="GARD:0006914"}

[Term]
id: MONDO:0010240
name: obsolete androgen insensitivity syndrome
is_obsolete: true
replaced_by: MONDO:0019154

[Term]
id: MONDO:0010241
name: congenital stationary night blindness 2A
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CACNA1F congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 2A X-linked" EXACT [DOID:0110871]
synonym: "congenital stationary night blindness caused by mutation in CACNA1F" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 2A" EXACT [DOID:0110871, MONDORULE:4]
synonym: "CSNB, incomplete, X-linked" EXACT [OMIM:300071]
synonym: "CSNB2A" RELATED [MONDO:Lexical, OMIM:300071]
synonym: "night blindness, congenital stationary, type 2" RELATED [OMIM:300071]
synonym: "night blindness, congenital stationary, type 2A" RELATED [MONDO:Lexical, OMIM:300071]
synonym: "night blindness, congenital stationary, type 2A; CSNB2A" RELATED [OMIM:300071]
xref: DOID:0110871 {source="MONDO:equivalentTo"}
xref: OMIM:300071 {source="MONDO:equivalentTo", source="DOID:0110871"}
xref: UMLS:C1848172 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300071"}
is_a: MONDO:0044749 {source="MONDO:cjm"} ! X-linked congenital stationary night blindness
property_value: exactMatch DOID:0110871
property_value: exactMatch http://identifiers.org/omim/300071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848172

[Term]
id: MONDO:0010242
name: fetal akinesia syndrome, X-linked
subset: gard_rare {source="GARD:0002293"}
synonym: "fetal akinesia syndrome X-linked" RELATED [GARD:0002293]
synonym: "fetal akinesia syndrome, X-linked" EXACT [OMIM:300073]
synonym: "polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures" RELATED [GARD:0002293]
synonym: "X-linked form of fetal akinesia syndrome" RELATED [GARD:0002293]
xref: GARD:0002293 {source="MONDO:equivalentTo"}
xref: MESH:C537921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300073 {source="MONDO:equivalentTo"}
xref: UMLS:C1848171 {source="OMIM:300073", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008824 {source="ORDO:994/btnt"} ! fetal akinesia deformation sequence
property_value: exactMatch http://identifiers.org/mesh/C537921
property_value: exactMatch http://identifiers.org/omim/300073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848171
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked xsd:anyURI {source="GARD:0002293"}

[Term]
id: MONDO:0010243
name: X-linked immunoneurologic disorder
def: "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." [Orphanet:2571]
subset: ordo_disease {source="Orphanet:2571"}
synonym: "immunoneurologic disorder, X-linked" EXACT [OMIM:300076]
synonym: "neonatal death immune deficiency" EXACT [GARD:0000274]
synonym: "Woods Black Norbury syndrome" EXACT [GARD:0000274]
synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571]
synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274]
xref: GARD:0000274 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D82.8 {source="ORDO:2571/attributed", source="ORDO:2571/ntbt", source="Orphanet:2571"}
xref: MESH:C536743 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300076 {source="MONDO:equivalentTo", source="Orphanet:2571", source="ORDO:2571/e"}
xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"}
xref: SCTID:719827008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1848144 {source="OMIM:300076", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2571", source="ORDO:2571/e"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0018038 {source="Orphanet:2571"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
property_value: exactMatch http://identifiers.org/mesh/C536743
property_value: exactMatch http://identifiers.org/omim/300076
property_value: exactMatch http://identifiers.org/snomedct/719827008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848144
property_value: exactMatch Orphanet:2571

[Term]
id: MONDO:0010244
name: CGF1
synonym: "CGF1" EXACT [MONDO:Lexical, OMIM:300082]
synonym: "cognitive function 1, social" EXACT [MONDO:Lexical, OMIM:300082]
synonym: "cognitive function 1, social; CGF1" EXACT [OMIM:300082]
synonym: "social cognition" EXACT [OMIM:300082]
xref: OMIM:300082 {source="MONDO:equivalentTo"}
xref: UMLS:C1848140 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300082"}
is_a: MONDO:0003847 {source="OMIM:300082/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/300082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848140

[Term]
id: MONDO:0010245
name: X-linked cone-rod dystrophy 2
subset: gard_rare {source="GARD:0001462"}
synonym: "COD2" EXACT [DOID:0111006, OMIM:300085]
synonym: "cone dystrophy 2, X-linked" EXACT [OMIM:300085]
synonym: "cone dystrophy X-linked 2" EXACT [GARD:0001462]
synonym: "cone-rod dystrophy X-linked 2" EXACT [GARD:0001462]
synonym: "cone-rod dystrophy, X-linked, 2" EXACT [MONDO:Lexical, OMIM:300085]
synonym: "cone-rod dystrophy, X-linked, 2; CORDX2" EXACT [OMIM:300085]
synonym: "CORDX2" EXACT [DOID:0111006, MONDO:Lexical, OMIM:300085]
synonym: "X-linked cone dystrophy 2" EXACT [DOID:0111006]
synonym: "X-linked cone-rod dystrophy type 2" EXACT [DOID:0111006, MONDORULE:1]
xref: DOID:0111006 {source="MONDO:equivalentTo"}
xref: GARD:0001462 {source="MONDO:equivalentTo"}
xref: MESH:C564717 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300085 {source="DOID:0111006", source="MONDO:equivalentTo"}
is_a: MONDO:0021155 ! X-linked cone-rod dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848139
property_value: exactMatch DOID:0111006
property_value: exactMatch http://identifiers.org/mesh/C564717
property_value: exactMatch http://identifiers.org/omim/300085
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2 xsd:anyURI {source="GARD:0001462"}

[Term]
id: MONDO:0010246
name: early infantile epileptic encephalopathy 9
def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039]
subset: ordo_disease {source="Orphanet:101039"}
synonym: "early infantile epileptic encephalopathy caused by mutation in PCDH19" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy type 9" EXACT [DOID:0060848, MONDORULE:1]
synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [DOID:0060848]
synonym: "EFMR" EXACT [DOID:0060848, Orphanet:101039]
synonym: "EIEE9" EXACT [DOID:0060848, MONDO:Lexical, OMIM:300088]
synonym: "epilepsy and mental retardation limited to females" RELATED [GARD:0010806]
synonym: "epilepsy, female restricted, with mental retardation" RELATED [GARD:0010806]
synonym: "epilepsy, female-restricted, with mental retardation" RELATED [OMIM:300088]
synonym: "epileptic encephalopathy, early infantile, 9" EXACT [MONDO:Lexical, OMIM:300088]
synonym: "epileptic encephalopathy, early infantile, 9; EIEE9" EXACT [OMIM:300088]
synonym: "epileptic encephalopathy, early infantile, type 9" EXACT [MONDORULE:1, OMIM:300088]
synonym: "familial epilepsy and mental retardation limited to females" EXACT [Orphanet:101039]
synonym: "female restricted epilepsy with intellectual deficit" RELATED [GARD:0010806]
synonym: "female restricted epilepsy with intellectual disability" RELATED [Orphanet:101039]
synonym: "female restricted epilepsy with mental retardation" EXACT [DOID:0060848]
synonym: "Juberg Hellman syndrome" EXACT [DOID:0060848]
synonym: "Juberg-Hellman syndrome" EXACT [OMIM:300088, Orphanet:101039]
synonym: "PCDH19 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PCDH19-related female-limited epilepsy" RELATED [GARD:0010806]
synonym: "PCDH19-related FLE" RELATED [GARD:0010806]
synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:0010806]
xref: DOID:0060848 {source="MONDO:equivalentTo"}
xref: GARD:0010806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C564715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300088 {source="ORDO:101039/e", source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848"}
xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"}
xref: UMLS:C1848137 {source="NCBI:mim2gene_medline", source="OMIM:300088", source="MONDO:equivalentTo", source="Orphanet:101039", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016021 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome
property_value: exactMatch DOID:0060848
property_value: exactMatch http://identifiers.org/mesh/C564715
property_value: exactMatch http://identifiers.org/omim/300088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848137
property_value: exactMatch Orphanet:101039

[Term]
id: MONDO:0010247
name: X-linked cerebral adrenoleukodystrophy
def: "X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." [Orphanet:139396]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:139396"}
synonym: "Addison disease and cerebral sclerosis" RELATED [OMIM:300100]
synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical, OMIM:300100]
synonym: "adrenoleukodystrophy childhood cerebral form" RELATED [GARD:0009412]
synonym: "adrenoleukodystrophy X-linked cerebral form" RELATED [GARD:0009412]
synonym: "adrenoleukodystrophy; ALD" RELATED [OMIM:300100]
synonym: "adrenomyeloneuropathy" RELATED [OMIM:300100]
synonym: "ALD" RELATED [MONDO:Lexical, OMIM:300100]
synonym: "ALD childhood cerebral form" RELATED [GARD:0009412]
synonym: "bronze Schilder disease" RELATED [OMIM:300100]
synonym: "childhood cerebral ALD" RELATED [GARD:0009412]
synonym: "childhood-onset cerebral X-linked adrenoleukodystrophy" RELATED [GARD:0009412]
synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100]
synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100]
xref: GARD:0009412 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="ORDO:139396/attributed", source="ORDO:139396/ntbt", source="Orphanet:139396"}
xref: OMIM:300100 {source="ORDO:139396/ntbt", source="MONDO:equivalentTo", source="Orphanet:139396", source="GARD:0009412"}
xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"}
xref: UMLS:CN036464 {source="MONDO:equivalentTo"}
xref: UMLS:CN199389 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015920 {source="Orphanet:139396"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0018544 {source="MONDOLEX:0010247", source="Orphanet:139396"} ! X-linked adrenoleukodystrophy
property_value: exactMatch http://identifiers.org/omim/300100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036464
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199389
property_value: exactMatch Orphanet:139396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy xsd:anyURI {source="GARD:0009412"}

[Term]
id: MONDO:0010248
name: X-linked spondyloepimetaphyseal dysplasia
def: "X-linked form of spondyloepimetaphyseal dysplasia." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:0004979"}
subset: ordo_disease {source="Orphanet:93349"}
synonym: "SEMD X-linked" RELATED [GARD:0004979]
synonym: "SEMD, X-linked" RELATED [OMIM:300106]
synonym: "SEMDX" RELATED [GARD:0004979]
synonym: "spondylo-epimetaphyseal dysplasia" RELATED [GARD:0004979]
synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979]
synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106]
synonym: "spondyloepimetaphyseal dysplasia, X-linked; SEMDX" RELATED [OMIM:300106]
xref: GARD:0004979 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93349/attributed", source="ORDO:93349/ntbt", source="Orphanet:93349"}
xref: MESH:C564714 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300106 {source="MONDO:equivalentTo", source="ORDO:93349/e", source="Orphanet:93349"}
xref: Orphanet:93349 {source="MONDO:equivalentTo", source="OMIM:300106"}
xref: UMLS:C1848097 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300106", source="Orphanet:93349"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0016761 {source="DC-OMIM:300106", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:93349"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C564714
property_value: exactMatch http://identifiers.org/omim/300106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848097
property_value: exactMatch Orphanet:93349
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked xsd:anyURI {source="GARD:0004979"}

[Term]
id: MONDO:0010249
name: obsolete X-linked B cell surface antigen, mouse, homolog-like 1
is_obsolete: true

[Term]
id: MONDO:0010250
name: MRX49
synonym: "mental retardation, X-linked 15" RELATED [OMIM:300114]
synonym: "mental retardation, X-linked 49" RELATED [MONDO:Lexical, OMIM:300114]
synonym: "mental retardation, X-linked 49; MRX49" RELATED [OMIM:300114]
synonym: "MRX49" EXACT [MONDO:Lexical, OMIM:300114]
xref: OMIM:300114 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300114", source="OMIM:300114"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1417292
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887959
property_value: exactMatch http://identifiers.org/omim/300114

[Term]
id: MONDO:0010251
name: MRX50
synonym: "mental retardation, X-linked 50" RELATED [MONDO:Lexical, OMIM:300115]
synonym: "mental retardation, X-linked 50; MRX50" RELATED [OMIM:300115]
synonym: "MRX50" EXACT [MONDO:Lexical, OMIM:300115]
xref: MESH:C564713 {source="MONDO:equivalentTo"}
xref: OMIM:300115 {source="MONDO:equivalentTo"}
xref: UMLS:C1848087 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300115"}
is_a: MONDO:0019181 {source="DC-OMIM:300115", source="OMIM:300115"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564713
property_value: exactMatch http://identifiers.org/omim/300115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848087

[Term]
id: MONDO:0010252
name: intellectual disability, X-linked, with panhypopituitarism
synonym: "mental retardation, X-linked, with isolated Growth hormone deficiency" RELATED [OMIM:300123]
synonym: "mental retardation, X-linked, with panhypopituitarism" RELATED [OMIM:300123]
xref: OMIM:300123 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic disease
is_a: MONDO:0010712 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! panhypopituitarism, X-linked
relationship: excluded_subClassOf MONDO:0001071 ! intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678223
property_value: exactMatch http://identifiers.org/omim/300123

[Term]
id: MONDO:0010253
name: migraine, familial typical, susceptibility to, 2
subset: predisposition
synonym: "Mfts" RELATED [OMIM:300125]
synonym: "Mgr2" RELATED [OMIM:300125]
synonym: "migraine with or without aura, susceptibility to, 2" RELATED [OMIM:300125]
synonym: "migraine, familial typical, susceptibility to, 2" EXACT [OMIM:300125]
synonym: "migraine, familial typical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300125]
xref: OMIM:300125 {source="MONDO:equivalentTo"}
is_a: MONDO:0000700 ! familial hemiplegic migraine
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848066
property_value: exactMatch http://identifiers.org/omim/300125

[Term]
id: MONDO:0010254
name: obsolete hematopoietic stem cell kinetics, control of
synonym: "hematopoietic stem cell kinetics, control of" EXACT [OMIM:300129]
xref: OMIM:300129 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848046
property_value: exactMatch http://identifiers.org/omim/300129
is_obsolete: true

[Term]
id: MONDO:0010255
name: diabetes mellitus, insulin-dependent, X-linked, susceptibility to
subset: predisposition
synonym: "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" EXACT [OMIM:300136]
synonym: "Iddmx" RELATED [OMIM:300136]
synonym: "insulin-dependent diabetes mellitus, X-linked, susceptibility to" RELATED [OMIM:300136]
xref: OMIM:300136 {source="MONDO:equivalentTo"}
xref: UMLS:C1848042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300136"}
is_a: MONDO:0005147 {source="DC-OMIM:300136", source="MONDOLEX:0010255", source="OMIM:300136"} ! type 1 diabetes mellitus
property_value: exactMatch http://identifiers.org/omim/300136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848042

[Term]
id: MONDO:0010256
name: intellectual disability, X-linked 21
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 21" RELATED [MONDO:Lexical, OMIM:300143]
synonym: "mental retardation, X-linked 21; MRX21" RELATED [OMIM:300143]
synonym: "mental retardation, X-linked 34" RELATED [OMIM:300143]
synonym: "mental retardation, X-linked type 21" EXACT [MONDORULE:2, OMIM:300143]
synonym: "MRX21" RELATED [MONDO:Lexical, OMIM:300143]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern]
xref: OMIM:300143 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300143", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796227
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796241
property_value: exactMatch http://identifiers.org/omim/300143

[Term]
id: MONDO:0010257
name: HPCX1
synonym: "HPCX1" EXACT [MONDO:Lexical, OMIM:300147]
synonym: "prostate cancer susceptibility, X-linked" RELATED [OMIM:300147]
synonym: "prostate cancer, hereditary, X-linked 1" RELATED [MONDO:Lexical, OMIM:300147]
synonym: "prostate cancer, hereditary, X-linked 1; HPCX1" RELATED [OMIM:300147]
xref: OMIM:300147 {source="MONDO:equivalentTo"}
xref: UMLS:C1846279 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300147"}
is_a: MONDO:0023122 {source="MONDOLEX:0010257"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/omim/300147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846279

[Term]
id: MONDO:0010258
name: MEHMO syndrome
def: "MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." [Orphanet:85282]
subset: ordo_malformation_syndrome {source="Orphanet:85282"}
synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" RELATED [GARD:0009178]
synonym: "MEHMO" RELATED [MONDO:Lexical, OMIM:300148]
synonym: "MEHMO syndrome; MEHMO" RELATED [OMIM:300148]
synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [DOID:0060801, MONDO:Lexical, OMIM:300148]
synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO" RELATED [OMIM:300148]
synonym: "mental retardation, X-linked, syndromic 20" RELATED [OMIM:300148]
synonym: "mental retardation, X-linked, syndromic 25" RELATED [OMIM:300148]
synonym: "MRXS20" EXACT [DOID:0060801]
synonym: "MRXS25" EXACT [DOID:0060801]
synonym: "syndromic X-linked mental retardation 20" EXACT [DOID:0060801]
synonym: "syndromic X-linked mental retardation 25" EXACT [DOID:0060801]
synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [DOID:0060801, Orphanet:85282]
synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178]
xref: DOID:0060801 {source="MONDO:equivalentTo"}
xref: GARD:0009178 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85282/attributed", source="ORDO:85282/ntbt", source="Orphanet:85282", source="DOID:0060801"}
xref: MESH:C537451 {source="MONDO:equivalentTo", source="ORDO:85282/e", source="Orphanet:85282", source="DOID:0060801", source="MONDO:ontobio"}
xref: OMIM:300148 {source="MONDO:equivalentTo", source="ORDO:85282/e", source="Orphanet:85282", source="DOID:0060801"}
xref: Orphanet:85282 {source="MONDO:equivalentTo", source="OMIM:300148", source="DOID:0060801"}
xref: SCTID:722037004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1846278 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300148", source="Orphanet:85282"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016565 {source="Orphanet:85282"} ! syndromic genetic obesity
is_a: MONDO:0020119 {source="DC-OMIM:300148", source="DOID:0060801", source="OMIM:300148", source="Orphanet:85282"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016402 {source="Orphanet:85282"} ! mitochondrial disease with epilepsy
relationship: excluded_subClassOf MONDO:0016403 {source="Orphanet:85282"} ! mitochondrial disease with peripheral neuropathy
property_value: exactMatch DOID:0060801
property_value: exactMatch http://identifiers.org/mesh/C537451
property_value: exactMatch http://identifiers.org/omim/300148
property_value: exactMatch http://identifiers.org/snomedct/722037004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931496
property_value: exactMatch Orphanet:85282

[Term]
id: MONDO:0010259
name: retinitis pigmentosa 24
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27." [DOID:0110416, PMID:10690843]
subset: gard_rare {source="GARD:0010389"}
synonym: "retinitis pigmentosa 24" EXACT [MONDO:Lexical, OMIM:300155]
synonym: "retinitis pigmentosa 24; RP24" RELATED [OMIM:300155]
synonym: "retinitis pigmentosa type 24" EXACT [DOID:0110416, MONDORULE:2]
synonym: "RP 24" RELATED [GARD:0010389]
synonym: "RP24" EXACT [DOID:0110416, MONDO:Lexical, OMIM:300155]
xref: DOID:0110416 {source="MONDO:equivalentTo"}
xref: GARD:0010389 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110416"}
xref: OMIM:300155 {source="DOID:0110416", source="MONDO:equivalentTo"}
xref: UMLS:C3887982 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:300155", source="DOID:0110416", source="OMIM:300155"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1419611
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846277
property_value: exactMatch DOID:0110416
property_value: exactMatch http://identifiers.org/omim/300155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887982
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 xsd:anyURI {source="GARD:0010389"}

[Term]
id: MONDO:0010260
name: ACLLX
synonym: "ACLLX" EXACT [MONDO:Lexical, OMIM:300158]
synonym: "arthrogryposis, congenital, LOWER limb, X-linked" RELATED [MONDO:Lexical, OMIM:300158]
synonym: "arthrogryposis, congenital, LOWER limb, X-linked; ACLLX" RELATED [OMIM:300158]
synonym: "arthrogryposis, X-linked, type V" RELATED [OMIM:300158]
synonym: "arthrogryposis, X-linked, type V, formerly" RELATED [OMIM:300158]
xref: MESH:C564574 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300158 {source="MONDO:equivalentTo"}
xref: UMLS:C1846273 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300158"}
is_a: MONDO:0003847 {source="MESH:C564574/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564574
property_value: exactMatch http://identifiers.org/omim/300158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846273

[Term]
id: MONDO:0010261
name: microphthalmia, syndromic 2
synonym: "Anop2" RELATED [OMIM:300166]
synonym: "Anop2, formerly" RELATED [OMIM:300166]
synonym: "Maa2" RELATED [OMIM:300166]
synonym: "Maa2, formerly" RELATED [OMIM:300166]
synonym: "MCOPS2" RELATED [MONDO:Lexical, OMIM:300166]
synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" RELATED [OMIM:300166]
synonym: "microphthalmia, syndromic 2" EXACT [MONDO:Lexical, OMIM:300166]
synonym: "microphthalmia, syndromic 2; MCOPS2" RELATED [OMIM:300166]
synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1, OMIM:300166]
synonym: "oculofaciocardiodental syndrome" RELATED [OMIM:300166]
synonym: "Ofcd syndrome" RELATED [OMIM:300166]
xref: OMIM:300166 {source="MONDO:equivalentTo"}
is_a: MONDO:0016073 {source="DC-OMIM:300166", source="MONDOLEX:0010261", source="OMIM:300166"} ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/omim/300166

[Term]
id: MONDO:0010262
name: hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
synonym: "hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response" RELATED [GARD:0009601]
synonym: "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" EXACT [OMIM:300184]
xref: GARD:0009601 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537159 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300184 {source="MONDO:equivalentTo"}
xref: UMLS:C1970936 {source="OMIM:300184", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537159
property_value: exactMatch http://identifiers.org/omim/300184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970936

[Term]
id: MONDO:0010263
name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
subset: ordo_disease {source="Orphanet:86818"}
synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED [OMIM:300194]
synonym: "AMME complex" EXACT [OMIM:300194, Orphanet:86818]
synonym: "AMME syndrome" EXACT [Orphanet:86818]
synonym: "ATS-MR" EXACT [Orphanet:86818]
synonym: "Ats-Mr" RELATED [OMIM:300194]
synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194]
xref: ICD10:Q87.8 {source="ORDO:86818/attributed", source="ORDO:86818/ntbt", source="Orphanet:86818"}
xref: MESH:C564570 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300194 {source="MONDO:equivalentTo", source="ORDO:86818/e", source="Orphanet:86818"}
xref: Orphanet:86818 {source="OMIM:300194", source="MONDO:equivalentTo"}
xref: SCTID:720982007 {source="MONDO:kboom-pr-0.99/0.73/5.07", source="MONDO:equivalentTo"}
xref: UMLS:C1846242 {source="OMIM:300194", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86818"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0015159 {source="Orphanet:86818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017007 {source="Orphanet:86818"} ! partial deletion of the long arm of chromosome X
is_a: MONDO:0020119 {source="Orphanet:86818"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564570
property_value: exactMatch http://identifiers.org/omim/300194
property_value: exactMatch http://identifiers.org/snomedct/720982007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846242
property_value: exactMatch Orphanet:86818

[Term]
id: MONDO:0010264
name: X-linked adrenal hypoplasia congenita
def: "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." [NCIT:C123725]
subset: ordo_disease {source="Orphanet:95702"}
synonym: "Addison disease, X-linked" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia congenita" EXACT [NCIT:C123725]
synonym: "adrenal hypoplasia, congenital" RELATED [MONDO:Lexical, OMIM:300200]
synonym: "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia, congenital, with precocious puberty" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia, congenital; AHC" RELATED [OMIM:300200]
synonym: "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism" RELATED [OMIM:300200]
synonym: "AHC" BROAD [MONDO:Lexical, OMIM:300200]
synonym: "AHC with HHG" RELATED [OMIM:300200]
synonym: "AHC with isolated gonadotropin deficiency" RELATED [OMIM:300200]
synonym: "congenital adrenal hypoplasia" EXACT [DOID:0080156]
synonym: "cytomegalic adrenocortical hypoplasia" RELATED [OMIM:300200]
synonym: "cytomegalic congenital adrenal hypoplasia" RELATED [Orphanet:95702]
synonym: "mineralocorticoid deficiency, isolated" RELATED [OMIM:300200]
synonym: "X-linked AHC" RELATED [GARD:0000555]
synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702]
xref: DOID:0080156 {source="MONDO:equivalentTo"}
xref: GARD:0000555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E27.1 {source="ORDO:95702/attributed", source="ORDO:95702/ntbt", source="Orphanet:95702"}
xref: NCIT:C123725 {source="MONDO:kboom-pr-0.94/0.80/1.26", source="MONDO:equivalentTo"}
xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="ORDO:95702/e", source="Orphanet:95702"}
xref: Orphanet:95702 {source="MONDO:equivalentTo", source="OMIM:300200"}
xref: SCTID:93235007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342482 {source="NCIT:C123725", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95702"}
is_a: MONDO:0000004 {source="DC-OMIM:300200", source="DOID:0080156", source="MONDO:Redundant", source="linkedlifedata"} ! adrenocortical insufficiency
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0015129 {source="Orphanet:95702", source="Orphanet:95702/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015891 {source="Orphanet:95702"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0016241 {source="MONDOLEX:0010264", source="NCIT:C123725"} ! alternating hemiplegia of childhood
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220766
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846220
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749175
property_value: exactMatch DOID:0080156
property_value: exactMatch http://identifiers.org/omim/300200
property_value: exactMatch http://identifiers.org/snomedct/93235007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342482
property_value: exactMatch NCIT:C123725
property_value: exactMatch Orphanet:95702

[Term]
id: MONDO:0010265
name: Simpson-Golabi-Behmel syndrome type 2
def: "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." [Orphanet:79022]
subset: ordo_malformation_syndrome {source="Orphanet:79022"}
synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [Orphanet:79022]
synonym: "OFD1 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGBS2" EXACT [Orphanet:79022]
synonym: "Sgbs2" RELATED [OMIM:300209]
synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209]
synonym: "Simpson-Golabi-Behmel syndrome, type 2; SGBS2" RELATED [OMIM:300209]
xref: DOID:0080342 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="ORDO:79022/attributed", source="ORDO:79022/ntbt", source="Orphanet:79022"}
xref: MESH:C564567 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300209 {source="DOID:0080342", source="MONDO:equivalentTo", source="ORDO:79022/e", source="Orphanet:79022"}
xref: Orphanet:79022 {source="MONDO:equivalentTo", source="OMIM:300209"}
xref: UMLS:C1846175 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79022", source="OMIM:300209"}
is_a: MONDO:0010731 {source="DC-OMIM:300209", source="MONDO:Redundant"} ! Simpson-Golabi-Behmel syndrome
property_value: exactMatch DOID:0080342
property_value: exactMatch http://identifiers.org/mesh/C564567
property_value: exactMatch http://identifiers.org/omim/300209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846175
property_value: exactMatch Orphanet:79022

[Term]
id: MONDO:0010266
name: intellectual disability, X-linked 58
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 58" RELATED [MONDO:Lexical, OMIM:300210]
synonym: "mental retardation, X-linked 58; MRX58" RELATED [OMIM:300210]
synonym: "mental retardation, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210]
synonym: "MRX58" RELATED [MONDO:Lexical, OMIM:300210]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern]
synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564566 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300210 {source="MONDO:equivalentTo"}
xref: UMLS:C1846174 {source="OMIM:300210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300210", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564566
property_value: exactMatch http://identifiers.org/omim/300210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846174

[Term]
id: MONDO:0010267
name: EMWX
synonym: "EMWX" EXACT [MONDO:Lexical, OMIM:300211]
synonym: "episodic muscle weakness, X-linked" RELATED [MONDO:Lexical, OMIM:300211]
synonym: "episodic muscle weakness, X-linked; EMWX" RELATED [OMIM:300211]
xref: MESH:C564565 {source="MONDO:equivalentTo"}
xref: OMIM:300211 {source="MONDO:equivalentTo"}
xref: UMLS:C1846173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300211"}
is_a: MONDO:0003847 {source="MESH:C564565/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564565
property_value: exactMatch http://identifiers.org/omim/300211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846173

[Term]
id: MONDO:0010268
name: X-linked lissencephaly with abnormal genitalia
def: "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene ( ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome; see this term), autistic features and nonsyndromicintellectual deficit." [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia]
subset: gard_rare {source="GARD:0012491"}
subset: ordo_malformation_syndrome {source="Orphanet:452"}
synonym: "hydranencephaly and abnormal genitalia" RELATED [OMIM:300215]
synonym: "hydranencephaly with abnormal genitalia" RELATED [GARD:0012491]
synonym: "lissencephaly, X-linked 2" RELATED [GARD:0012491]
synonym: "lissencephaly, X-linked, 2" RELATED [MONDO:Lexical, OMIM:300215]
synonym: "lissencephaly, X-linked, 2; LISX2" RELATED [OMIM:300215]
synonym: "lissencephaly, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300215]
synonym: "lissencephaly, X-linked, with ambiguous genitalia" RELATED [OMIM:300215]
synonym: "LISX2" RELATED [MONDO:Lexical, OMIM:300215]
synonym: "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies" RELATED [GARD:0012491]
synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [Orphanet:452]
synonym: "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" EXACT [Orphanet:452]
synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [Orphanet:452]
synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [Orphanet:452]
synonym: "XLAG syndrome" RELATED [GARD:0012491]
synonym: "Xlisg" RELATED [OMIM:300215]
xref: GARD:0012491 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:452/attributed", source="ORDO:452/ntbt", source="Orphanet:452"}
xref: MESH:C564563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300215 {source="MONDO:equivalentTo", source="ORDO:452/e", source="Orphanet:452"}
xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"}
xref: SCTID:717632002 {source="MONDO:kboom-pr-1.00/0.80/9.28", source="MONDO:equivalentTo"}
is_a: MONDO:0015147 {source="Orphanet:452"} ! other syndrome with lissencephaly as a major feature
is_a: MONDO:0018496 {source="Orphanet:452"} ! ARX-related encephalopathy-brain malformation spectrum
is_a: MONDO:0020042 {source="Orphanet:452"} ! syndrome with 46,XY disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846171
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846172
property_value: exactMatch http://identifiers.org/mesh/C564563
property_value: exactMatch http://identifiers.org/omim/300215
property_value: exactMatch http://identifiers.org/snomedct/717632002
property_value: exactMatch Orphanet:452
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia xsd:anyURI {source="GARD:0012491"}

[Term]
id: MONDO:0010269
name: Coats disease
def: "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." [Orphanet:190]
subset: gard_rare {source="GARD:0006121"}
subset: ordo_disease {source="Orphanet:190"}
synonym: "Coats disease" EXACT [OMIM:300216]
synonym: "Coats' disease" EXACT [DOID:7765]
synonym: "Coats' syndrome" EXACT [DOID:7765]
synonym: "congenital retinal telangiectasia" EXACT [Orphanet:190]
synonym: "exudative retinopathy" EXACT [DOID:7765, ICD9CM_2006:362.12]
synonym: "Leber miliary aneurysm" EXACT [Orphanet:190]
synonym: "retinal telangiectasis" RELATED [OMIM:300216]
xref: COHD:373756 {source="MONDO:equivalentTo"}
xref: DOID:7765 {source="MONDO:equivalentTo"}
xref: GARD:0006121 {source="MONDO:equivalentTo"}
xref: ICD10:H35.0 {source="Orphanet:190", source="ORDO:190/inclusion", source="ORDO:190/ntbt"}
xref: ICD10:H35.02 {source="DOID:7765"}
xref: ICD10:H35.07 {source="DOID:7765"}
xref: ICD9:362.12 {source="DOID:7765"}
xref: MedDRA:10015901 {source="ORDO:190/e", source="Orphanet:190"}
xref: MESH:D058456 {source="ORDO:190/e", source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300216 {source="ORDO:190/e", source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo"}
xref: Orphanet:190 {source="MONDO:equivalentTo", source="OMIM:300216"}
xref: SCTID:360455002 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="DOID:7765", source="MONDO:equivalentTo"}
xref: UMLS:C0154832 {source="ORDO:190/e", source="DOID:7765", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:190", source="MONDO:equivalentTo", source="OMIM:300216"}
is_a: MONDO:0004348 {source="DOID:7765", source="linkedlifedata"} ! retinal telangiectasia
is_a: MONDO:0015953 {source="Orphanet:190"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0020221 {source="Orphanet:190"} ! secondary glaucoma due to a proliferation and differentiation anomaly
is_a: MONDO:0020247 {source="Orphanet:190"} ! congenital vitreoretinal dysplasia
property_value: closeMatch http://identifiers.org/snomedct/193359003
property_value: closeMatch http://identifiers.org/snomedct/193360008
property_value: closeMatch http://identifiers.org/snomedct/25506007
property_value: exactMatch DOID:7765
property_value: exactMatch http://identifiers.org/meddra/10015901
property_value: exactMatch http://identifiers.org/mesh/D058456
property_value: exactMatch http://identifiers.org/omim/300216
property_value: exactMatch http://identifiers.org/snomedct/360455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154832
property_value: exactMatch Orphanet:190
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6121/coats-disease xsd:anyURI {source="GARD:0006121"}

[Term]
id: MONDO:0010270
name: syndromic X-linked intellectual disability 7
def: "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." [Orphanet:85274]
subset: ordo_malformation_syndrome {source="Orphanet:85274"}
synonym: "Ahmad X-linked mental retardation syndrome" RELATED [OMIM:300218]
synonym: "mental retardation X-linked syndromic 7" RELATED [GARD:0009156]
synonym: "mental retardation, obesity, hypogonadism, and tapering fingers" RELATED [GARD:0009156]
synonym: "mental retardation, X-linked syndromic 7" EXACT [DOID:0060808]
synonym: "mental retardation, X-linked, syndromic 7" RELATED [MONDO:Lexical, OMIM:300218]
synonym: "mental retardation, X-linked, syndromic 7; MRXS7" RELATED [OMIM:300218]
synonym: "MRXS7" EXACT [DOID:0060808, MONDO:Lexical, OMIM:300218, Orphanet:85274]
synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808, MONDORULE:1, Orphanet:85274]
synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274]
xref: DOID:0060808 {source="MONDO:equivalentTo"}
xref: GARD:0009156 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="DOID:0060808", source="ORDO:85274/attributed", source="ORDO:85274/ntbt", source="Orphanet:85274"}
xref: MESH:C537449 {source="DOID:0060808", source="MONDO:equivalentTo", source="ORDO:85274/e", source="MONDO:ontobio", source="Orphanet:85274"}
xref: OMIM:300218 {source="DOID:0060808", source="MONDO:equivalentTo", source="ORDO:85274/e", source="Orphanet:85274"}
xref: Orphanet:85274 {source="DOID:0060808", source="MONDO:equivalentTo", source="OMIM:300218"}
xref: SCTID:719160009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1846170 {source="DOID:0060808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85274/e", source="MEDGEN:kboom-pr92-c96", source="OMIM:300218", source="Orphanet:85274"}
xref: UMLS:C4304916 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85274"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300218", source="DOID:0060808", source="OMIM:300218", source="Orphanet:85274"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060808
property_value: exactMatch http://identifiers.org/mesh/C537449
property_value: exactMatch http://identifiers.org/omim/300218
property_value: exactMatch http://identifiers.org/snomedct/719160009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304916
property_value: exactMatch Orphanet:85274

[Term]
id: MONDO:0010271
name: X-linked myotubular myopathy-abnormal genitalia syndrome
def: "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." [Orphanet:456328]
subset: ordo_disease {source="Orphanet:456328"}
synonym: "myotubular myopathy with abnormal genital development" RELATED [OMIM:300219]
synonym: "Xq28 contiguous gene deletion syndrome" EXACT [Orphanet:456328]
xref: MESH:C564561 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300219 {source="ORDO:456328/e", source="MONDO:equivalentTo", source="Orphanet:456328"}
xref: Orphanet:456328 {source="MONDO:equivalentTo"}
xref: UMLS:C1846169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300219"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0010683 {source="MONDOLEX:0010271", source="OWLReasoner:2017"} ! X-linked centronuclear myopathy
is_a: MONDO:0017007 {source="Orphanet:456328"} ! partial deletion of the long arm of chromosome X
is_a: MONDO:0020042 {source="Orphanet:456328"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C564561
property_value: exactMatch http://identifiers.org/omim/300219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846169
property_value: exactMatch Orphanet:456328

[Term]
id: MONDO:0010272
name: syndromic X-linked intellectual disability type 10
def: "HSD10 disease, atypical type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Manifestations may be variable and may be characterized by intellectual disability, choreoathetosis and/or behavior disorders (aggressiveness, agitation, hallucinations, automutilation), as well as pre- and postnatal growth retardation, microcephaly and/or speech impairment. Severe ketoacidosis and elevated urinary excretion of isoleucine metabolites are reported." [Orphanet:85295]
subset: ordo_clinical_subtype {source="Orphanet:85295"}
synonym: "Chorioathetosis with mental retardation and abnormal behavior" RELATED [OMIM:300220]
synonym: "HSD10 deficiency, atypical type" EXACT [DOID:0060810, Orphanet:85295]
synonym: "HSD10 disease, atypical type" EXACT [DOID:0060810]
synonym: "mental retardation with Chorioathetosis and abnormal behavior" RELATED [OMIM:300220]
synonym: "mental retardation, X-linked syndromic 10" EXACT [DOID:0060810]
synonym: "mental retardation, X-linked, syndromic 10" RELATED [MONDO:Lexical, OMIM:300220]
synonym: "mental retardation, X-linked, syndromic 10; MRXS10" RELATED [OMIM:300220]
synonym: "mental retardation, X-linked, syndromic type 10" EXACT [MONDORULE:2, OMIM:300220]
synonym: "moved to 300438" RELATED [OMIM:300220]
synonym: "MRXS10" EXACT [DOID:0060810, MONDO:Lexical, OMIM:300220]
synonym: "syndromic X-linked intellectual disability type 10" EXACT [Orphanet:85295]
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT [DOID:0060810, Orphanet:85295]
xref: DOID:0060810 {source="MONDO:equivalentTo"}
xref: ICD10:G25.5 {source="ORDO:85295/attributed", source="ORDO:85295/ntbt", source="DOID:0060810", source="Orphanet:85295"}
xref: MESH:C564560 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300220 {source="MONDO:equivalentTo", source="DOID:0060810", source="ORDO:85295/e"}
xref: Orphanet:85295 {source="OMIM:300220", source="MONDO:equivalentTo", source="DOID:0060810"}
xref: UMLS:C1846168 {source="NCBI:mim2gene_medline", source="OMIM:300220", source="MONDO:equivalentTo"}
is_a: MONDO:0010327 {source="Orphanet:85295"} ! HSD10 disease
property_value: exactMatch DOID:0060810
property_value: exactMatch http://identifiers.org/mesh/C564560
property_value: exactMatch http://identifiers.org/omim/300220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846168
property_value: exactMatch Orphanet:85295

[Term]
id: MONDO:0010273
name: lymphoma, Hodgkin, X-linked pseudoautosomal
synonym: "Hodgkin disease, X-linked Pseudoautosomal" RELATED [OMIM:300221]
synonym: "lymphoma, Hodgkin, X-linked pseudoautosomal" EXACT [OMIM:300221]
xref: GARD:0009899 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300221 {source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0010273", source="ORDO:391/btnt"} ! classic Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846167
property_value: exactMatch http://identifiers.org/mesh/C538326
property_value: exactMatch http://identifiers.org/omim/300221

[Term]
id: MONDO:0010274
name: TGCT1
synonym: "testicular germ cell tumor 1" RELATED [MONDO:Lexical, OMIM:300228]
synonym: "testicular germ cell tumor 1; TGCT1" RELATED [OMIM:300228]
synonym: "TGCT1" EXACT [MONDO:Lexical, OMIM:300228]
xref: MESH:C564559 {source="MONDO:equivalentTo"}
xref: OMIM:300228 {source="MONDO:equivalentTo"}
xref: UMLS:C1846164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300228"}
is_a: MONDO:0010108 {source="MONDOLEX:0010274"} ! testicular germ cell tumor
property_value: exactMatch http://identifiers.org/mesh/C564559
property_value: exactMatch http://identifiers.org/omim/300228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846164

[Term]
id: MONDO:0010275
name: spondyloepimetaphyseal dysplasia, Bieganski type
def: "Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy." [Orphanet:168448]
subset: ordo_disease {source="Orphanet:168448", source="Orphanet:83629"}
synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660]
synonym: "leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD" RELATED [OMIM:300660]
synonym: "LKMCD" RELATED [MONDO:Lexical, OMIM:300660]
synonym: "SEMD X-linked with mental deterioration" RELATED [GARD:0004891]
synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232]
synonym: "spondyloepimetaphyseal dysplasia x-linked with mental deterioration" RELATED [GARD:0004891]
synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232]
xref: GARD:0004891 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.4 {source="ORDO:83629/attributed", source="ORDO:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"}
xref: ICD10:Q77.7 {source="ORDO:168448/attributed", source="ORDO:168448/ntbt", source="Orphanet:168448"}
xref: MESH:C536671 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:C567065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="ORDO:168448/e"}
xref: OMIM:300660 {source="MONDO:equivalentTo", source="ORDO:83629/e", source="Orphanet:83629"}
xref: Orphanet:168448 {source="OMIM:300232", source="MONDO:equivalentTo"}
xref: Orphanet:83629 {source="MONDO:obsoleteEquivalent", source="OMIM:300660"}
xref: UMLS:C1846148 {source="OMIM:300232", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:168448"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536671
property_value: exactMatch http://identifiers.org/mesh/C567065
property_value: exactMatch http://identifiers.org/omim/300232
property_value: exactMatch http://identifiers.org/omim/300660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846148
property_value: exactMatch Orphanet:168448
property_value: exactMatch Orphanet:83629

[Term]
id: MONDO:0010276
name: radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
synonym: "radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE" RELATED [OMIM:300233]
xref: MESH:C564557 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300233 {source="MONDO:equivalentTo"}
xref: UMLS:C1846147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300233"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564557
property_value: exactMatch http://identifiers.org/omim/300233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846147

[Term]
id: MONDO:0010277
name: syndromic X-linked intellectual disability Shashi type
def: "X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome." [Orphanet:85286]
subset: ordo_malformation_syndrome {source="Orphanet:85286"}
synonym: "mental retardation X-linked Shashi type" RELATED [GARD:0004119]
synonym: "mental retardation X-linked syndromic 11" RELATED [GARD:0004119]
synonym: "mental retardation, X-linked, Shashi type" RELATED [OMIM:300238]
synonym: "mental retardation, X-linked, syndromic 11" RELATED [MONDO:Lexical, OMIM:300238]
synonym: "mental retardation, X-linked, syndromic 11, Shashi type" EXACT [DOID:0060826]
synonym: "mental retardation, X-linked, syndromic 11; MRXS11" RELATED [OMIM:300238]
synonym: "MRXS11" EXACT [DOID:0060826, MONDO:Lexical, OMIM:300238]
synonym: "Shashi X-linked mental retardation syndrome" EXACT [DOID:0060826, OMIM:300238]
synonym: "SMRXS" EXACT [DOID:0060826]
synonym: "syndromic X-linked intellectual disability type 11" EXACT [DOID:0060826, Orphanet:85286]
synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286]
synonym: "X-linked mental retardation Shashi type" EXACT [DOID:0060826]
xref: DOID:0060826 {source="MONDO:equivalentTo"}
xref: GARD:0004119 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="DOID:0060826", source="ORDO:85286/attributed", source="ORDO:85286/ntbt", source="Orphanet:85286"}
xref: MESH:C537135 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300238 {source="MONDO:equivalentTo", source="DOID:0060826", source="ORDO:85286/e", source="Orphanet:85286"}
xref: Orphanet:85286 {source="MONDO:equivalentTo", source="OMIM:300238", source="DOID:0060826"}
xref: SCTID:718900002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1846145 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300238"}
xref: UMLS:C4305085 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85286"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300238", source="DOID:0060826", source="OMIM:300238", source="Orphanet:85286"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060826
property_value: exactMatch http://identifiers.org/mesh/C537135
property_value: exactMatch http://identifiers.org/omim/300238
property_value: exactMatch http://identifiers.org/snomedct/718900002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305085
property_value: exactMatch Orphanet:85286

[Term]
id: MONDO:0010278
name: Christianson syndrome
def: "Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." [Orphanet:85278]
subset: gard_rare {source="GARD:0010572"}
subset: ordo_malformation_syndrome {source="Orphanet:85278"}
synonym: "Angelman-like syndrome x-linked" RELATED [GARD:0010572]
synonym: "Angelman-like syndrome, X-linked" RELATED [OMIM:300243]
synonym: "intellectual disability microcephaly epilepsy and ataxia syndrome" RELATED [GARD:0010572]
synonym: "intellectual disability x-linked syndromic Christianson type" RELATED [GARD:0010572]
synonym: "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT [DOID:0060825, OMIM:300243]
synonym: "mental retardation, X-linked syndromic, Christianson type" EXACT [DOID:0060825]
synonym: "mental retardation, X-linked, syndromic, Christianson type" RELATED [MONDO:Lexical, OMIM:300243]
synonym: "mental retardation, X-linked, syndromic, Christianson type; MRXSCH" RELATED [OMIM:300243]
synonym: "MRXS Christianson" RELATED [GARD:0010572]
synonym: "MRXSCH" EXACT [DOID:0060825, MONDO:Lexical, OMIM:300243]
synonym: "X-linked Angelman-like syndrome" EXACT [DOID:0060825, Orphanet:85278]
synonym: "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy" RELATED [GARD:0010572]
synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825, Orphanet:85278]
synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278]
xref: DOID:0060825 {source="MONDO:equivalentTo"}
xref: GARD:0010572 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85278", source="DOID:0060825", source="ORDO:85278/attributed", source="ORDO:85278/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567484 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300243 {source="Orphanet:85278", source="MONDO:equivalentTo", source="DOID:0060825", source="ORDO:85278/e"}
xref: Orphanet:85278 {source="OMIM:300243", source="MONDO:equivalentTo", source="DOID:0060825"}
xref: SCTID:702354007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2678194 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:85278", source="OMIM:300243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:85278"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015655 {source="Orphanet:85278"} ! cerebral malformation with epilepsy
is_a: MONDO:0016612 {source="Orphanet:85278"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="DC-OMIM:300243", source="DOID:0060825", source="OMIM:300243", source="Orphanet:85278"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060825
property_value: exactMatch http://identifiers.org/mesh/C537450
property_value: exactMatch http://identifiers.org/mesh/C567484
property_value: exactMatch http://identifiers.org/omim/300243
property_value: exactMatch http://identifiers.org/snomedct/702354007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678194
property_value: exactMatch Orphanet:85278
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome xsd:anyURI {source="GARD:0010572"}

[Term]
id: MONDO:0010279
name: terminal osseous dysplasia-pigmentary defects syndrome
def: "Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." [Orphanet:88630]
subset: ordo_malformation_syndrome {source="Orphanet:88630"}
synonym: "Odpd" RELATED [OMIM:300244]
synonym: "Odpf syndrome" RELATED [OMIM:300244]
synonym: "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula" RELATED [OMIM:300244]
synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical, OMIM:300244]
synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:300244]
synonym: "terminal osseous dysplasia; TOD" RELATED [OMIM:300244]
synonym: "TOD" RELATED [MONDO:Lexical, OMIM:300244]
xref: ICD10:Q87.2 {source="ORDO:88630/attributed", source="ORDO:88630/ntbt", source="Orphanet:88630"}
xref: MESH:C564554 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300244 {source="MONDO:equivalentTo", source="ORDO:88630/e", source="Orphanet:88630"}
xref: Orphanet:88630 {source="MONDO:equivalentTo", source="OMIM:300244"}
xref: UMLS:C1846129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300244", source="Orphanet:88630"}
is_a: MONDO:0019289 {source="Orphanet:88630"} ! hyperpigmentation of the skin
is_a: MONDO:0019690 {source="Orphanet:88630"} ! filamin-related bone disorder
is_a: MONDO:0019695 {source="Orphanet:88630"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C564554
property_value: exactMatch http://identifiers.org/omim/300244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846129
property_value: exactMatch Orphanet:88630

[Term]
id: MONDO:0010280
name: ptosis, hereditary congenital 2
synonym: "Ptos2" RELATED [OMIM:300245]
synonym: "ptosis, hereditary congenital 2" EXACT [OMIM:300245]
synonym: "ptosis, hereditary congenital type 2" EXACT [MONDORULE:1, OMIM:300245]
synonym: "ptosis, X-linked" RELATED [OMIM:300245]
xref: MESH:C564553 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300245 {source="MONDO:equivalentTo"}
xref: UMLS:C1846128 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300245"}
is_a: MONDO:0008340 {source="ORDO:91411/btnt"} ! congenital ptosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C564553
property_value: exactMatch http://identifiers.org/omim/300245
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846128

[Term]
id: MONDO:0010281
name: Danon disease
def: "Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." [Orphanet:34587]
subset: gard_rare {source="GARD:0009730"}
subset: ordo_disease {source="Orphanet:34587"}
synonym: "ANTOPOL disease" EXACT [DOID:0050437]
synonym: "Antopol disease" RELATED [OMIM:300257]
synonym: "Danon disease" EXACT [OMIM:300257, Orphanet:34587]
synonym: "glycogen storage cardiomyopathy" RELATED [GARD:0009730]
synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [Orphanet:34587]
synonym: "glycogen storage disease IIb" RELATED [OMIM:300257]
synonym: "glycogen storage disease limited to the heart" RELATED [GARD:0009730]
synonym: "glycogen storage disease type 2b (formerly)" RELATED [GARD:0009730]
synonym: "glycogen storage disease type IIb" EXACT [NCIT:C84735]
synonym: "glycogenosis due to LAMP-2 deficiency" EXACT [Orphanet:34587]
synonym: "GSD due to LAMP-2 deficiency" EXACT [Orphanet:34587]
synonym: "GSD IIb" RELATED [OMIM:300257]
synonym: "GSD IIb, formerly" RELATED [OMIM:300257]
synonym: "GSD2B (formerly)" RELATED [GARD:0009730]
synonym: "LAMP2 lysosomal glycogen storage disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "lysosomal glycogen storage disease caused by mutation in LAMP2" EXACT []
synonym: "lysosomal glycogen storage disease with normal acid maltase activity" EXACT [Orphanet:34587]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [OMIM:300257]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency (formerly)" RELATED [GARD:0009730]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency, formerly" RELATED [OMIM:300257]
synonym: "pseudoglycogenosis 2" RELATED [OMIM:300257]
synonym: "pseudoglycogenosis II" EXACT [DOID:0050437]
synonym: "vacuolar cardiomyopathy and myopathy X-linked" RELATED [GARD:0009730]
synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [OMIM:300257]
synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730]
xref: DOID:0050437 {source="MONDO:equivalentTo"}
xref: EFO:1001333 {source="MONDO:equivalentTo"}
xref: GARD:0009730 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:34587/attributed", source="ORDO:34587/ntbt", source="Orphanet:34587"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437", source="MONDO:ontobio"}
xref: NCIT:C84735 {source="MONDO:equivalentTo", source="DOID:0050437"}
xref: OMIM:300257 {source="MONDO:equivalentTo", source="DOID:0050437", source="ORDO:34587/e", source="Orphanet:34587"}
xref: Orphanet:34587 {source="MONDO:equivalentTo", source="OMIM:300257"}
xref: SCTID:419097006 {source="MONDO:equivalentTo", source="DOID:0050437", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0878677 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050437", source="OMIM:300257", source="Orphanet:34587"}
is_a: MONDO:0002412 {source="MESH:D052120", source="NCIT:C84735/inferred", source="Orphanet:34587", source="linkedlifedata"} ! glycogen storage disease
is_a: MONDO:0015920 {source="Orphanet:34587"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016118 {source="Orphanet:34587"} ! muscular glycogenosis
is_a: MONDO:0016325 {source="Orphanet:34587"} ! glycogen storage disease with hypertrophic cardiomyopathy
is_a: MONDO:0016326 ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0017738 {source="Orphanet:34587"} ! lysosomal glycogen storage disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
relationship: excluded_subClassOf MONDO:0009290 {source="NCIT:C84735"} ! glycogen storage disease II
property_value: exactMatch DOID:0050437
property_value: exactMatch http://identifiers.org/mesh/D052120
property_value: exactMatch http://identifiers.org/omim/300257
property_value: exactMatch http://identifiers.org/snomedct/419097006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878677
property_value: exactMatch NCIT:C84735
property_value: exactMatch Orphanet:34587
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9730/danon-disease xsd:anyURI {source="GARD:0009730"}

[Term]
id: MONDO:0010282
name: mycobacterium tuberculosis, susceptibility to, X-linked
subset: predisposition
synonym: "MTBSX" RELATED [OMIM:300259]
synonym: "mycobacterium tuberculosis, susceptibility to, X-linked" EXACT [OMIM:300259]
xref: OMIM:300259 {source="MONDO:equivalentTo"}
is_a: MONDO:0000070 {source="DC-OMIM:300259", source="MONDOLEX:0010282"} ! mycobacterium tuberculosis, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866629
property_value: exactMatch http://identifiers.org/omim/300259

[Term]
id: MONDO:0010283
name: syndromic X-linked intellectual disability Lubs type
def: "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." [Orphanet:1762]
subset: ordo_malformation_syndrome {source="Orphanet:1762"}
synonym: "distal duplication Xq" EXACT [Orphanet:1762]
synonym: "Lubs X-linked mental retardation syndrome" EXACT [DOID:0060799]
synonym: "Lubs X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:300260]
synonym: "Lubs X-linked mental retardation syndrome (formerly)" RELATED [GARD:0009781]
synonym: "Lubs X-linked mental retardation syndrome; MRXSL" RELATED [OMIM:300260]
synonym: "MECP2 Duplication syndrome" RELATED [OMIM:300260]
synonym: "MECP2 duplication syndrome" EXACT [DOID:0060799]
synonym: "mental retardation, X-linked, Lubs type (formerly)" RELATED [GARD:0009781]
synonym: "mental retardation, X-linked, syndromic, Lubs type" EXACT [DOID:0060799]
synonym: "mental retardation, X-linked, with recurrent respiratory infections" EXACT [DOID:0060799, OMIM:300260]
synonym: "MRXSL" EXACT [DOID:0060799, MONDO:Lexical, OMIM:300260]
synonym: "telomeric duplication Xq" EXACT [Orphanet:1762]
synonym: "trisomy Xq28" RELATED [Orphanet:1762]
synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [DOID:0060799]
synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781]
xref: DOID:0060799 {source="MONDO:equivalentTo"}
xref: GARD:0009781 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="DOID:0060799"}
xref: ICD10:Q99.8 {source="Orphanet:1762", source="ORDO:1762/attributed", source="ORDO:1762/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537723 {source="ORDO:1762/e", source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="MONDO:ontobio"}
xref: NCIT:C126747 {source="MONDO:kboom-pr-1.00/0.91/26.48", source="MONDO:equivalentTo"}
xref: OMIM:300260 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799"}
xref: Orphanet:1762 {source="MONDO:equivalentTo"}
xref: SCTID:702816000 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C1846058 {source="OMIM:300260", source="ORDO:1762/e", source="NCBI:mim2gene_medline", source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="NCIT:C126747"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1762"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017010 {source="MONDOLEX:0010283", source="Orphanet:1762"} ! partial duplication of the long arm of chromosome X
is_a: MONDO:0020119 {source="DC-OMIM:300260", source="DOID:0060799", source="OMIM:300260", source="Orphanet:1762"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714043
property_value: closeMatch Orphanet:85281
property_value: exactMatch DOID:0060799
property_value: exactMatch http://identifiers.org/mesh/C537723
property_value: exactMatch http://identifiers.org/omim/300260
property_value: exactMatch http://identifiers.org/snomedct/702816000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846058
property_value: exactMatch NCIT:C126747
property_value: exactMatch Orphanet:1762

[Term]
id: MONDO:0010284
name: Armfield syndrome
def: "X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." [Orphanet:85276]
subset: ordo_malformation_syndrome {source="Orphanet:85276"}
synonym: "Armfield syndrome" EXACT [Orphanet:85276]
synonym: "Armfield X-linked mental retardation syndrome" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261]
synonym: "Armfield X-linked mental retardation syndrome; MRXSA" RELATED [OMIM:300261]
synonym: "mental retardation syndrome, X-linked, Armfield type" EXACT [DOID:0050764]
synonym: "mental retardation, X-linked, syndromic, Armfield type" RELATED [OMIM:300261]
synonym: "MRXSA" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261]
synonym: "syndromic X-linked mental retardation Armfield type" EXACT [DOID:0050764]
synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764]
xref: DOID:0050764 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="ORDO:85276/attributed", source="ORDO:85276/ntbt"}
xref: MESH:C564551 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="ORDO:85276/e"}
xref: Orphanet:85276 {source="OMIM:300261", source="DOID:0050764", source="MONDO:equivalentTo"}
xref: SCTID:719017003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C1846057 {source="OMIM:300261", source="Orphanet:85276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85276"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300261", source="DOID:0050764", source="OMIM:300261", source="Orphanet:85276"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0050764
property_value: exactMatch http://identifiers.org/mesh/C564551
property_value: exactMatch http://identifiers.org/omim/300261
property_value: exactMatch http://identifiers.org/snomedct/719017003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846057
property_value: exactMatch Orphanet:85276

[Term]
id: MONDO:0010285
name: syndromic X-linked intellectual disability Abidi type
def: "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." [Orphanet:85273]
subset: ordo_malformation_syndrome {source="Orphanet:85273"}
synonym: "ABIDI X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:300262]
synonym: "ABIDI X-linked mental retardation syndrome; MRXSAB" RELATED [OMIM:300262]
synonym: "intellectual disability X-linked Abidi type" RELATED [GARD:0009157]
synonym: "mental retardation, X-linked syndromic, Abidi type" EXACT [DOID:0060818]
synonym: "mental retardation, X-linked, syndromic, Abidi type" RELATED [OMIM:300262]
synonym: "MRXSAB" EXACT [DOID:0060818, MONDO:Lexical, OMIM:300262]
synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" RELATED [GARD:0009157]
synonym: "syndromic X-linked mental retardation Abidi type" EXACT [DOID:0060818]
synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273]
xref: DOID:0060818 {source="MONDO:equivalentTo"}
xref: GARD:0009157 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85273/attributed", source="ORDO:85273/ntbt", source="DOID:0060818", source="Orphanet:85273"}
xref: MESH:C535556 {source="DOID:0060818", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"}
xref: OMIM:300262 {source="DOID:0060818", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"}
xref: Orphanet:85273 {source="DOID:0060818", source="OMIM:300262", source="MONDO:equivalentTo"}
xref: UMLS:C1846056 {source="DOID:0060818", source="OMIM:300262", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85273"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300262", source="DOID:0060818", source="OMIM:300262", source="Orphanet:85273"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060818
property_value: exactMatch http://identifiers.org/mesh/C535556
property_value: exactMatch http://identifiers.org/omim/300262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846056
property_value: exactMatch Orphanet:85273

[Term]
id: MONDO:0010286
name: syndromic X-linked intellectual disability Siderius type
subset: ordo_malformation_syndrome {source="Orphanet:85287"}
synonym: "intellectual deficit X-linked Siderius type" RELATED [GARD:0009704]
synonym: "mental retardation syndrome, X-linked, Siderius type" EXACT [DOID:0060812]
synonym: "mental retardation X-linked Siderius type" RELATED [GARD:0009704]
synonym: "mental retardation, X-linked, syndromic, Siderius type" RELATED [OMIM:300263]
synonym: "MRXSSD" EXACT [DOID:0060812]
synonym: "MRXSSD" RELATED [MONDO:Lexical, OMIM:300263]
synonym: "Siderius Hamel syndrome" RELATED [GARD:0009704]
synonym: "Siderius X-linked mental retardation syndrome" EXACT [DOID:0060812, MONDO:Lexical, OMIM:300263]
synonym: "Siderius X-linked mental retardation syndrome; MRXSSD" RELATED [OMIM:300263]
synonym: "Siderius-Hamel syndrome" EXACT [DOID:0060812, OMIM:300263]
synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:85287]
synonym: "X-linked mental retardation Hamel type" RELATED [GARD:0009704]
xref: DOID:0060812 {source="MONDO:equivalentTo"}
xref: GARD:0009704 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:85287", source="DOID:0060812", source="ORDO:85287/attributed", source="ORDO:85287/ntbt"}
xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="DOID:0060812", source="MONDO:ontobio", source="ORDO:85287/e"}
xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="DOID:0060812", source="ORDO:85287/e"}
xref: Orphanet:85287 {source="OMIM:300263", source="MONDO:equivalentTo", source="DOID:0060812"}
xref: UMLS:C1846055 {source="Orphanet:85287", source="OMIM:300263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060812", source="ORDO:85287/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85287"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300263", source="DOID:0060812", source="OMIM:300263", source="Orphanet:85287"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060812
property_value: exactMatch http://identifiers.org/mesh/C537333
property_value: exactMatch http://identifiers.org/omim/300263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846055
property_value: exactMatch Orphanet:85287

[Term]
id: MONDO:0010287
name: hereditary spastic paraplegia 16
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2." [DOID:0110769, PMID:9254866]
subset: ordo_disease {source="Orphanet:100997"}
synonym: "hereditary spastic paraplegia type 16" EXACT [DOID:0110769, MONDORULE:2]
synonym: "spastic paraplegia 16" RELATED [GARD:0009585]
synonym: "spastic paraplegia 16, X-linked" RELATED [MONDO:Lexical, OMIM:300266]
synonym: "spastic paraplegia 16, X-linked; SPG16" RELATED [OMIM:300266]
synonym: "SPG16" EXACT [DOID:0110769, MONDO:Lexical, OMIM:300266, Orphanet:100997]
synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769]
synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769]
xref: DOID:0110769 {source="MONDO:equivalentTo"}
xref: GARD:0009585 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110769", source="ORDO:100997/attributed", source="ORDO:100997/ntbt", source="Orphanet:100997"}
xref: MESH:C536643 {source="MONDO:equivalentTo", source="ORDO:100997/e", source="Orphanet:100997", source="MONDO:ontobio"}
xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="ORDO:100997/e", source="Orphanet:100997"}
xref: Orphanet:100997 {source="DOID:0110769", source="MONDO:equivalentTo", source="OMIM:300266"}
xref: UMLS:C1846046 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100997/e", source="OMIM:300266", source="Orphanet:100997"}
is_a: MONDO:0017916 {source="Orphanet:100997"} ! pure or complex X-linked spastic paraplegia
property_value: exactMatch DOID:0110769
property_value: exactMatch http://identifiers.org/mesh/C536643
property_value: exactMatch http://identifiers.org/omim/300266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846046
property_value: exactMatch Orphanet:100997

[Term]
id: MONDO:0010288
name: adrenomyodystrophy
def: "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." [Orphanet:977]
subset: ordo_disease {source="Orphanet:977"}
synonym: "adrenomyodystrophy" EXACT [OMIM:300270]
xref: GARD:0000562 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C538051 {source="ORDO:977/e", source="Orphanet:977", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300270 {source="ORDO:977/e", source="Orphanet:977", source="MONDO:equivalentTo"}
xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"}
xref: SCTID:763311001 {source="MONDO:equivalentTo"}
xref: UMLS:C1846044 {source="ORDO:977/e", source="Orphanet:977", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300270"}
is_a: MONDO:0015129 {source="Orphanet:977", source="Orphanet:977/inferred"} ! chronic primary adrenal insufficiency
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C538051
property_value: exactMatch http://identifiers.org/omim/300270
property_value: exactMatch http://identifiers.org/snomedct/763311001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846044
property_value: exactMatch Orphanet:977

[Term]
id: MONDO:0010289
name: intellectual disability, X-linked 72
synonym: "mental retardation, X-linked 72" RELATED [MONDO:Lexical, OMIM:300271]
synonym: "mental retardation, X-linked 72; MRX72" RELATED [OMIM:300271]
synonym: "mental retardation, X-linked type 72" EXACT [MONDORULE:2, OMIM:300271]
synonym: "MRX72" RELATED [MONDO:Lexical, OMIM:300271]
xref: MESH:C564547 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300271 {source="MONDO:equivalentTo"}
xref: UMLS:C1846038 {source="OMIM:300271", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300271", source="OMIM:300271"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564547
property_value: exactMatch http://identifiers.org/omim/300271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846038

[Term]
id: MONDO:0010290
name: MNG2
synonym: "goiter, multinodular 2" RELATED [MONDO:Lexical, OMIM:300273]
synonym: "goiter, multinodular 2; MNG2" RELATED [OMIM:300273]
synonym: "MNG2" EXACT [MONDO:Lexical, OMIM:300273]
xref: MESH:C564546 {source="MONDO:equivalentTo"}
xref: OMIM:300273 {source="MONDO:equivalentTo"}
xref: UMLS:C1846033 {source="OMIM:300273", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007681 ! familial multinodular goiter
property_value: exactMatch http://identifiers.org/mesh/C564546
property_value: exactMatch http://identifiers.org/omim/300273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846033

[Term]
id: MONDO:0010291
name: obsolete androgen insensitivity syndrome due to coactivator deficiency
synonym: "androgen insensitivity syndrome due to coactivator deficiency" RELATED [OMIM:300274]
property_value: closeMatch http://identifiers.org/mesh/C564545
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846032
is_obsolete: true
replaced_by: MONDO:0019154

[Term]
id: MONDO:0010292
name: Uruguay Faciocardiomusculoskeletal syndrome
synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" RELATED [OMIM:300280]
synonym: "Fcms" RELATED [OMIM:300280]
synonym: "FCMSU" RELATED [OMIM:300280]
synonym: "Uruguay Faciocardiomusculoskeletal syndrome" EXACT [OMIM:300280]
synonym: "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome; FCMSU" RELATED [OMIM:300280]
xref: MESH:C564544 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300280 {source="MONDO:equivalentTo"}
xref: UMLS:C1846010 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300280"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564544
property_value: exactMatch http://identifiers.org/omim/300280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846010

[Term]
id: MONDO:0010293
name: hypohidrotic ectodermal dysplasia with immunodeficiency
subset: ordo_clinical_subtype {source="Orphanet:98813"}
synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844]
synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813]
synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291]
synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291]
synonym: "EDA-ID" EXACT [OMIM:300291, Orphanet:98813]
synonym: "HED-ID" EXACT [OMIM:300291, Orphanet:98813]
synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291]
synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844]
synonym: "Xhm-Ed" RELATED [OMIM:300291]
xref: GARD:0009936 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D82.8 {source="ORDO:98813/attributed", source="ORDO:98813/ntbt", source="Orphanet:98813"}
xref: NCIT:C118844 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIMPS:300291 {source="MONDO:equivalentTo"}
xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"}
xref: SCTID:703525006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C1846006 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98813", source="NCIT:C118844", source="OMIM:300291"}
is_a: MONDO:0016535 {source="MONDOLEX:0010293", source="Orphanet:98813", source="linkedlifedata"} ! hypohidrotic ectodermal dysplasia
is_a: MONDO:0018035 {source="Orphanet:98813"} ! syndrome with combined immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846008
property_value: exactMatch http://identifiers.org/snomedct/703525006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846006
property_value: exactMatch NCIT:C118844
property_value: exactMatch Orphanet:98813

[Term]
id: MONDO:0010294
name: X-linked severe congenital neutropenia
def: "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." [https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked]
subset: gard_rare {source="GARD:0003981"}
subset: ordo_disease {source="Orphanet:86788"}
synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300299]
synonym: "neutropenia, severe congenital, X-linked; SCNX" RELATED [OMIM:300299]
synonym: "SCNX" RELATED [MONDO:Lexical, OMIM:300299]
synonym: "severe congenital neutropenia X-linked" RELATED [GARD:0003981]
synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "Xln" RELATED [OMIM:300299]
xref: GARD:0003981 {source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="Orphanet:86788", source="ORDO:86788/attributed", source="ORDO:86788/ntbt"}
xref: MESH:C564539 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300299 {source="ORDO:86788/e", source="Orphanet:86788", source="MONDO:equivalentTo"}
xref: Orphanet:86788 {source="MONDO:equivalentTo", source="OMIM:300299"}
xref: SCTID:718882006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1845987 {source="Orphanet:86788", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300299"}
is_a: MONDO:0000425 {source="MESH:C564539", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! X-linked disease
is_a: MONDO:0018542 {source="DC-OMIM:300299", source="MONDO:Redundant", source="MONDOLEX:0010294", source="OMIM:300299", source="Orphanet:86788", source="linkedlifedata"} ! severe congenital neutropenia
property_value: exactMatch http://identifiers.org/mesh/C564539
property_value: exactMatch http://identifiers.org/omim/300299
property_value: exactMatch http://identifiers.org/snomedct/718882006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845987
property_value: exactMatch Orphanet:86788
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked xsd:anyURI {source="GARD:0003981"}

[Term]
id: MONDO:0010295
name: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
def: "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." [Orphanet:69088]
subset: ordo_disease {source="Orphanet:69088"}
synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301]
synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID" RELATED [OMIM:300301]
synonym: "ol-EDA-ID" EXACT [Orphanet:69088]
synonym: "OLEDAID" RELATED [MONDO:Lexical, OMIM:300301]
xref: ICD10:Q78.2 {source="ORDO:69088/attributed", source="ORDO:69088/ntbt", source="Orphanet:69088"}
xref: MESH:C564538 {source="MONDO:equivalentTo"}
xref: OMIM:300301 {source="MONDO:equivalentTo", source="ORDO:69088/e", source="Orphanet:69088"}
xref: Orphanet:69088 {source="MONDO:equivalentTo", source="OMIM:300301"}
xref: SCTID:720986005 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0017198 {source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata"} ! osteopetrosis (disease)
is_a: MONDO:0018035 {source="Orphanet:69088"} ! syndrome with combined immunodeficiency
is_a: MONDO:0018722 {source="Orphanet:69088"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019287 {source="MESH:C564538", source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:69088"} ! syndromic lymphedema
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845919
property_value: exactMatch http://identifiers.org/mesh/C564538
property_value: exactMatch http://identifiers.org/omim/300301
property_value: exactMatch http://identifiers.org/snomedct/720986005
property_value: exactMatch Orphanet:69088

[Term]
id: MONDO:0010296
name: AGMX2
synonym: "agammaglobulinemia X-linked type 2" RELATED [GARD:0010007]
synonym: "agammaglobulinemia, X-linked, type 2" RELATED [MONDO:Lexical, OMIM:300310]
synonym: "agammaglobulinemia, X-linked, type 2; AGMX2" RELATED [OMIM:300310]
synonym: "AGMX2" EXACT [MONDO:Lexical, OMIM:300310]
synonym: "XLA2" RELATED [OMIM:300310]
xref: GARD:0010007 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538057 {source="MONDO:equivalentTo"}
xref: OMIM:300310 {source="MONDO:equivalentTo"}
xref: UMLS:C1845903 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300310"}
is_a: MONDO:0010421 {source="ORDO:47/btnt"} ! Bruton-type agammaglobulinemia
property_value: exactMatch http://identifiers.org/mesh/C538057
property_value: exactMatch http://identifiers.org/omim/300310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845903

[Term]
id: MONDO:0010297
name: FG syndrome 2
def: "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009923"}
synonym: "FG syndrome 2" EXACT [MONDO:Lexical, OMIM:300321]
synonym: "FG syndrome 2; FGS2" RELATED [OMIM:300321]
synonym: "FG syndrome caused by mutation in FLNA" EXACT [MONDO:design_pattern]
synonym: "FG syndrome type 2" EXACT [MONDORULE:1, OMIM:300321]
synonym: "FGS2" RELATED [GARD:0009923, MONDO:Lexical, OMIM:300321]
synonym: "FLNA FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0009923 {source="MONDO:equivalentTo"}
xref: OMIM:300321 {source="GARD:0009923", source="MONDO:equivalentTo"}
xref: UMLS:C1845902 {source="GARD:0009923", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300321"}
is_a: MONDO:0002010 {source="DC-OMIM:300321", source="MONDO:Redundant", source="MONDOLEX:0010297"} ! FG syndrome
property_value: exactMatch http://identifiers.org/omim/300321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845902
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2 xsd:anyURI {source="GARD:0009923"}

[Term]
id: MONDO:0010298
name: Lesch-Nyhan syndrome
def: "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." [Orphanet:510]
subset: ordo_disease {source="Orphanet:510"}
synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919]
synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919]
synonym: "HG-PRT deficiency" EXACT [DOID:1919, MTHICD9_2006:277.2]
synonym: "HPRT complete deficiency" EXACT [Orphanet:510]
synonym: "HPRT deficiency" RELATED [OMIM:300322]
synonym: "HPRT deficiency grade IV" EXACT [Orphanet:510]
synonym: "HPRT deficiency, complete" RELATED [OMIM:300322]
synonym: "HPRT deficiency, neurologic variant" RELATED [OMIM:300322]
synonym: "Hprt1 deficiency" RELATED [OMIM:300322]
synonym: "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" RELATED [GARD:0007226]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [OMIM:300322]
synonym: "hypoxanthine guanine phosphoribosyltransferase complete deficiency" EXACT [Orphanet:510]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" BROAD [CSP2005:1849-8105, DOID:1919]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" EXACT [Orphanet:510]
synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT EXCLUDE [DOID:1919]
synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" BROAD [DOID:1919]
synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" EXACT [DOID:1919]
synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" RELATED [DOID:1919]
synonym: "Lesch - Nyhan syndrome" EXACT [DOID:1919]
synonym: "Lesch Nyhan disease" RELATED [GARD:0007226]
synonym: "Lesch Nyhan syndrome" RELATED [GARD:0007226]
synonym: "Lesch-Nyhan syndrome" EXACT [MONDO:Lexical, OMIM:300322]
synonym: "Lesch-Nyhan syndrome, neurologic variant" RELATED [OMIM:300322]
synonym: "Lesch-Nyhan syndrome; LNS" RELATED [OMIM:300322]
synonym: "LNS" RELATED [MONDO:Lexical, OMIM:300322]
synonym: "X-linked hyperuricemia" EXACT [DOID:1919]
synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919]
xref: DOID:1919 {source="MONDO:equivalentTo"}
xref: GARD:0007226 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/specific", source="ORDO:510/e"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10057589 {source="Orphanet:510", source="ORDO:510/e"}
xref: MESH:D007926 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/e"}
xref: NCIT:C61255 {source="DOID:1919", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:300322 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/e"}
xref: Orphanet:510 {source="MONDO:equivalentTo", source="OMIM:300322"}
xref: SCTID:10406007 {source="DOID:1919", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.72/0.06"}
xref: UMLS:C0023374 {source="Orphanet:510", source="DOID:1919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300322", source="NCIT:C61255", source="ORDO:510/e"}
xref: UMLS:CN205196 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016088 {source="Orphanet:510", source="linkedlifedata"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency
property_value: closeMatch http://identifiers.org/snomedct/190917005
property_value: closeMatch http://identifiers.org/snomedct/190918000
property_value: closeMatch http://identifiers.org/snomedct/190921003
property_value: closeMatch http://identifiers.org/snomedct/267451005
property_value: closeMatch http://identifiers.org/snomedct/68655008
property_value: closeMatch http://identifiers.org/snomedct/90924007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845892
property_value: exactMatch DOID:1919
property_value: exactMatch http://identifiers.org/meddra/10057589
property_value: exactMatch http://identifiers.org/mesh/D007926
property_value: exactMatch http://identifiers.org/omim/300322
property_value: exactMatch http://identifiers.org/snomedct/10406007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205196
property_value: exactMatch NCIT:C61255
property_value: exactMatch Orphanet:510

[Term]
id: MONDO:0010299
name: hypoxanthine guanine phosphoribosyltransferase partial deficiency
def: "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." [Orphanet:79233]
subset: ordo_disease {source="Orphanet:79233"}
synonym: "gout, HPRT-related" RELATED [OMIM:300323]
synonym: "HPRT deficiency, grade I" EXACT [Orphanet:79233]
synonym: "HPRT deficiency, partial" RELATED [OMIM:300323]
synonym: "HPRT partial deficiency" EXACT [Orphanet:79233]
synonym: "HPRT-related gout" EXACT [Orphanet:79233]
synonym: "HPRT-related hyperuricemia" EXACT [Orphanet:79233]
synonym: "Hprt1 deficiency, partial" RELATED [OMIM:300323]
synonym: "HPRT1 partial deficiency" EXACT [Orphanet:79233]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" RELATED [OMIM:300323]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [Orphanet:79233]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [Orphanet:79233]
synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323]
synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233]
xref: ICD10:E79.8 {source="ORDO:79233/attributed", source="ORDO:79233/ntbt", source="Orphanet:79233"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562583 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300323 {source="MONDO:equivalentTo", source="ORDO:79233/e", source="Orphanet:79233"}
xref: Orphanet:79233 {source="MONDO:equivalentTo", source="OMIM:300323"}
xref: SCTID:238007004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0268117 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300323", source="Orphanet:79233"}
is_a: MONDO:0016088 {source="Orphanet:79233", source="linkedlifedata"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency
property_value: exactMatch http://identifiers.org/mesh/C562583
property_value: exactMatch http://identifiers.org/omim/300323
property_value: exactMatch http://identifiers.org/snomedct/238007004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268117
property_value: exactMatch Orphanet:79233

[Term]
id: MONDO:0010300
name: MRX53
synonym: "mental retardation, X-linked 53" RELATED [MONDO:Lexical, OMIM:300324]
synonym: "mental retardation, X-linked 53; MRX53" RELATED [OMIM:300324]
synonym: "MRX53" EXACT [MONDO:Lexical, OMIM:300324]
xref: MESH:C564533 {source="MONDO:equivalentTo"}
xref: OMIM:300324 {source="MONDO:equivalentTo"}
xref: UMLS:C1845889 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300324"}
is_a: MONDO:0019181 {source="DC-OMIM:300324", source="OMIM:300324"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564533
property_value: exactMatch http://identifiers.org/omim/300324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845889

[Term]
id: MONDO:0010301
name: THCYTX
synonym: "THCYTX" EXACT [MONDO:Lexical, OMIM:300331]
synonym: "thrombocythemia, X-linked" RELATED [MONDO:Lexical, OMIM:300331]
synonym: "thrombocythemia, X-linked; THCYTX" RELATED [OMIM:300331]
synonym: "thrombocytosis, X-linked" RELATED [OMIM:300331]
xref: OMIM:300331 {source="MONDO:equivalentTo"}
xref: UMLS:C1845888 {source="OMIM:300331", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019111 {source="MONDOLEX:0010301", source="OMIM:300331", source="ORDO:71493/btnt"} ! familial thrombocytosis
property_value: exactMatch http://identifiers.org/omim/300331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845888

[Term]
id: MONDO:0010302
name: Ito hypomelanosis
def: "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." [Orphanet:435]
subset: ordo_disease {source="Orphanet:435"}
synonym: "hi syndrome" EXACT [Orphanet:435]
synonym: "HMI" RELATED [MONDO:Lexical, OMIM:300337]
synonym: "hypomelanosis of Ito" EXACT [MONDO:Lexical, OMIM:300337, Orphanet:435]
synonym: "hypomelanosis of Ito; HMI" RELATED [OMIM:300337]
synonym: "Incontinentia pigmenti achromians" RELATED [OMIM:300337]
synonym: "Incontinentia pigmenti type 1" EXACT [Orphanet:435]
synonym: "Incontinentia pigmenti type 1 (formerly)" RELATED [GARD:0002992]
synonym: "Incontinentia pigmenti, type I" RELATED [OMIM:300337]
synonym: "Incontinentia pigmenti, type I, formerly" RELATED [OMIM:300337]
synonym: "IPA" RELATED [GARD:0002992]
synonym: "Ito" RELATED [GARD:0002992]
synonym: "Ito hypomelanosis" EXACT [OMIM:300337]
synonym: "pigmentary mosaicism, Ito type" EXACT [Orphanet:435]
xref: DOID:3156 {source="MONDO:equivalentTo"}
xref: GARD:0002992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:435", source="ORDO:435/attributed", source="ORDO:435/ntbt"}
xref: OMIM:300337 {source="Orphanet:435", source="MONDO:equivalentTo", source="ORDO:435/e"}
xref: Orphanet:435 {source="MONDO:equivalentTo", source="OMIM:300337"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015651 {source="Orphanet:435"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="Orphanet:435"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019290 {source="OMIM:300337", source="Orphanet:435"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0020276 {source="Orphanet:435"} ! pigmentation disorder with eye involvement, excluding albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415618
property_value: exactMatch DOID:3156
property_value: exactMatch http://identifiers.org/omim/300337
property_value: exactMatch Orphanet:435

[Term]
id: MONDO:0010303
name: colobomatous microphthalmia
def: "Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." [Orphanet:98938]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:98938"}
synonym: "MAC" EXACT [Orphanet:98938]
synonym: "MCOPCB1" RELATED [MONDO:Lexical, OMIM:300345]
synonym: "microphthalmia associated with colobomatous cyst" RELATED [GARD:0003644]
synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938]
synonym: "microphthalmia, isolated, with coloboma 1" RELATED [MONDO:Lexical, OMIM:300345]
synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938]
synonym: "microphthalmos bilateral, colobomatous orbital cyst" RELATED [GARD:0003644, MESH:C537463]
xref: GARD:0003644 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.2 {source="ORDO:98938/attributed", source="ORDO:98938/ntbt", source="Orphanet:98938"}
xref: MESH:C537463 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="MONDO:equivalentTo", source="OMIM:300345"}
xref: UMLS:CN228419 {source="MONDO:equivalentTo"}
is_a: MONDO:0000170 {source="MONDOLEX:0010303", source="OMIM:300345"} ! microphthalmia, isolated, with coloboma
is_a: MONDO:0001476 {source="MESH:C537463", source="MONDO:Redundant"} ! coloboma
is_a: MONDO:0016764 {source="Orphanet:98938"} ! isolated anophthalmia-microphthalmia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931501
property_value: exactMatch http://identifiers.org/mesh/C537463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228419
property_value: exactMatch Orphanet:98938
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst xsd:anyURI {source="GARD:0003644"}

[Term]
id: MONDO:0010304
name: Graves disease, susceptibility to, X-linked 1
subset: predisposition
synonym: "Graves disease, susceptibility to, X-linked 1" EXACT [OMIM:300351]
synonym: "Graves disease, susceptibility to, X-linked 2" RELATED [OMIM:300351]
synonym: "Graves disease, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300351]
synonym: "Grdx1" RELATED [OMIM:300351]
xref: OMIM:300351 {source="MONDO:equivalentTo"}
is_a: MONDO:0005364 {source="DC-OMIM:300351", source="MONDOLEX:0010304", source="OMIM:300351"} ! Graves disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678151
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678152
property_value: exactMatch http://identifiers.org/omim/300351

[Term]
id: MONDO:0010305
name: creatine transporter deficiency
def: "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." [Orphanet:52503]
subset: ordo_disease {source="Orphanet:52503"}
synonym: "CCDS1" RELATED [MONDO:Lexical, OMIM:300352]
synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, OMIM:300352]
synonym: "cerebral creatine deficiency syndrome 1; CCDS1" RELATED [OMIM:300352]
synonym: "cerebral creatine deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:300352]
synonym: "creatine deficiency syndrome, X-linked" RELATED [OMIM:300352]
synonym: "creatine deficiency, X-linked" RELATED [GARD:0001608]
synonym: "creatine transporter defect" RELATED [OMIM:300352]
synonym: "creatine transporter deficiency" EXACT [Orphanet:52503]
synonym: "mental retardation , X-linked with seizures, short stature and midface hypoplasia" RELATED [GARD:0001608]
synonym: "mental retardation , X-linked, with creatine transport deficiency" RELATED [GARD:0001608]
synonym: "mental retardation, X-linked, with creatine Transport deficiency" RELATED [OMIM:300352]
synonym: "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" RELATED [OMIM:300352]
synonym: "SLC6A8 deficiency" EXACT [DOID:0050800, Orphanet:52503]
synonym: "X-linked creatine deficiency" RELATED [GARD:0001608]
synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608]
synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503]
xref: DOID:0050800 {source="MONDO:equivalentTo"}
xref: GARD:0001608 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="ORDO:52503/attributed", source="ORDO:52503/ntbt", source="Orphanet:52503"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535598 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125665 {source="MONDO:equivalentTo"}
xref: OMIM:300352 {source="ORDO:52503/e", source="MONDO:equivalentTo", source="Orphanet:52503", source="DOID:0050800"}
xref: Orphanet:52503 {source="OMIM:300352", source="MONDO:equivalentTo"}
xref: SCTID:698290008 {source="MONDO:kboom-pr-1.00/0.79/8.44", source="MONDO:equivalentTo"}
is_a: MONDO:0000456 {source="DOID:0050800", source="OMIM:300352", source="Orphanet:52503"} ! cerebral creatine deficiency syndrome
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:52503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015920 {source="Orphanet:52503"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845862
property_value: exactMatch DOID:0050800
property_value: exactMatch http://identifiers.org/mesh/C535598
property_value: exactMatch http://identifiers.org/omim/300352
property_value: exactMatch http://identifiers.org/snomedct/698290008
property_value: exactMatch NCIT:C125665
property_value: exactMatch Orphanet:52503

[Term]
id: MONDO:0010306
name: X-linked intellectual disability, Cabezas type
def: "X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome." [Orphanet:85293]
comment: OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. {source="OMIM:300354"}
subset: ordo_malformation_syndrome {source="Orphanet:85293"}
synonym: "Cabezas syndrome" EXACT [Orphanet:85293]
synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT [DOID:0060822]
synonym: "Cabezas type of X-linked syndromic intellectual disability" RELATED [GARD:0013244]
synonym: "Cul4B-related X-linked intellectual disability" RELATED [GARD:0013244]
synonym: "intellectual disability, X-linked, syndromic 15" RELATED [GARD:0013244]
synonym: "mental retardation, X-linked, syndromic 15" RELATED [OMIM:300354]
synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT [DOID:0060822]
synonym: "mental retardation, X-linked, syndromic, Cabezas type" RELATED [MONDO:Lexical, OMIM:300354]
synonym: "mental retardation, X-linked, syndromic, Cabezas type; MRXSC" RELATED [OMIM:300354]
synonym: "mental retardation, X-linked, with short stature" EXACT [OMIM:300354]
synonym: "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED [OMIM:300354]
synonym: "MRSS" EXACT [DOID:0060822]
synonym: "MRXS15" EXACT [DOID:0060822]
synonym: "MRXSC" EXACT [DOID:0060822, MONDO:Lexical, OMIM:300354]
synonym: "syndromic X-linked intellectual disability Cabezas type" EXACT [MONDO:0000826]
synonym: "X-linked mental retardation with short stature" EXACT [DOID:0060822]
synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT [DOID:0060822]
xref: DOID:0060822 {source="MONDO:equivalentTo"}
xref: GARD:0013244 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85293/attributed", source="ORDO:85293/ntbt", source="DOID:0060822", source="Orphanet:85293"}
xref: OMIM:300354 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="DOID:0060822", source="ORDO:85293/e", source="Orphanet:85293"}
xref: Orphanet:85293 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:300354", source="DOID:0060822"}
xref: SCTID:719811001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C1845845 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1845861 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300354", source="MEDGEN:kboom-pr92-c94", source="Orphanet:85293"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300354", source="DOID:0060822", source="OMIM:300354", source="Orphanet:85293"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060822
property_value: exactMatch http://identifiers.org/omim/300354
property_value: exactMatch http://identifiers.org/snomedct/719811001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845861
property_value: exactMatch Orphanet:85293

[Term]
id: MONDO:0010307
name: MRX73
synonym: "mental retardation, X-linked 73" RELATED [MONDO:Lexical, OMIM:300355]
synonym: "mental retardation, X-linked 73; MRX73" RELATED [OMIM:300355]
synonym: "MRX73" EXACT [MONDO:Lexical, OMIM:300355]
xref: MESH:C564528 {source="MONDO:equivalentTo"}
xref: OMIM:300355 {source="MONDO:equivalentTo"}
xref: UMLS:C1845860 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300355"}
is_a: MONDO:0019181 {source="DC-OMIM:300355", source="OMIM:300355"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564528
property_value: exactMatch http://identifiers.org/omim/300355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845860

[Term]
id: MONDO:0010308
name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia
def: "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." [NCIT:C136653]
synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" EXACT [MONDO:Lexical, OMIM:300367]
synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia; XLTDA" RELATED [OMIM:300367]
synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" EXACT [NCIT:C136653]
synonym: "XLTDA" RELATED [MONDO:Lexical, OMIM:300367]
xref: NCIT:C136653 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.76"}
xref: OMIM:300367 {source="MONDO:equivalentTo"}
xref: UMLS:C3550789 {source="MONDO:equivalentTo", source="OMIM:300367"}
is_a: MONDO:0002049 {source="DC-OMIM:300367", source="OMIM:300367"} ! thrombocytopenia
is_a: MONDO:0003847 {source="OMIM:300367/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845837
property_value: exactMatch http://identifiers.org/omim/300367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550789
property_value: exactMatch NCIT:C136653

[Term]
id: MONDO:0010309
name: MRX42
synonym: "mental retardation, X-linked 42" RELATED [MONDO:Lexical, OMIM:300372]
synonym: "mental retardation, X-linked 42; MRX42" RELATED [OMIM:300372]
synonym: "MRX42" EXACT [MONDO:Lexical, OMIM:300372]
xref: MESH:C564524 {source="MONDO:equivalentTo"}
xref: OMIM:300372 {source="MONDO:equivalentTo"}
xref: UMLS:C1845810 {source="OMIM:300372", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300372", source="OMIM:300372"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564524
property_value: exactMatch http://identifiers.org/omim/300372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845810

[Term]
id: MONDO:0010310
name: osteopathia striata with cranial sclerosis
def: "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." [Orphanet:2780]
subset: ordo_malformation_syndrome {source="Orphanet:2780"}
synonym: "hyperostosis generalisata with striations" EXACT [DOID:0060886, OMIM:300373, Orphanet:2780]
synonym: "OSCS" RELATED [MONDO:Lexical, OMIM:300373]
synonym: "osteopathia striata - cranial sclerosis" RELATED [GARD:0004148]
synonym: "osteopathia striata cranial sclerosis" RELATED [GARD:0004148]
synonym: "osteopathia striata with cranial sclerosis" EXACT [MONDO:Lexical, OMIM:300373]
synonym: "osteopathia striata with cranial sclerosis; OSCS" RELATED [OMIM:300373]
synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [Orphanet:2780]
synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780]
xref: DOID:0060886 {source="MONDO:equivalentTo"}
xref: EFO:0005834 {source="MONDO:equivalentTo"}
xref: GARD:0004148 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="DOID:0060886", source="ORDO:2780/attributed", source="ORDO:2780/ntbt", source="Orphanet:2780"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536053 {source="DOID:0060886", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2780", source="ORDO:2780/e"}
xref: OMIM:300373 {source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780", source="ORDO:2780/e"}
xref: Orphanet:2780 {source="OMIM:300373", source="DOID:0060886", source="MONDO:equivalentTo"}
xref: SCTID:254129003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432268 {source="OMIM:300373", source="NCBI:mim2gene_medline", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780", source="ORDO:2780/e"}
is_a: MONDO:0017198 {source="Orphanet:2780"} ! osteopetrosis (disease)
property_value: exactMatch DOID:0060886
property_value: exactMatch http://identifiers.org/mesh/C536053
property_value: exactMatch http://identifiers.org/omim/300373
property_value: exactMatch http://identifiers.org/snomedct/254129003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432268
property_value: exactMatch Orphanet:2780

[Term]
id: MONDO:0010311
name: Becker muscular dystrophy
def: "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98895]
subset: gard_rare {source="GARD:0005900"}
subset: ordo_disease {source="Orphanet:98895"}
synonym: "Becker dystrophinopathy" EXACT [Orphanet:98895]
synonym: "Becker muscular dystrophy" EXACT [OMIM:300376]
synonym: "Becker's muscular dystrophy" RELATED [GARD:0005900]
synonym: "benign congenital myopathy" EXACT [DOID:9883]
synonym: "benign pseudohypertrophic muscular dystrophy" EXACT [DOID:9883]
synonym: "BMD" EXACT [Orphanet:98895]
synonym: "BMD" RELATED [MONDO:Lexical, OMIM:300376]
synonym: "muscular dystrophy pseudohypertrophic progressive, Becker type" RELATED [GARD:0005900]
synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, OMIM:300376]
synonym: "muscular dystrophy, Becker type; BMD" RELATED [OMIM:300376]
synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376]
xref: DOID:9883 {source="MONDO:equivalentTo"}
xref: GARD:0005900 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98895", source="ORDO:98895/inclusion", source="ORDO:98895/ntbt"}
xref: MedDRA:10059117 {source="Orphanet:98895", source="ORDO:98895/e"}
xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"}
xref: NCIT:C84587 {source="MONDO:equivalentTo"}
xref: OMIM:300376 {source="Orphanet:98895", source="MONDO:equivalentTo", source="DOID:9883", source="ORDO:98895/e"}
xref: Orphanet:98895 {source="MONDO:equivalentTo", source="OMIM:300376"}
xref: SCTID:387732009 {source="MONDO:equivalentTo"}
xref: UMLS:C0699741 {source="MONDO:equivalentTo", source="DOID:9883", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3490459 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010542 ! dilated cardiomyopathy 3B
is_a: MONDO:0016899 {source="Orphanet:98895"} ! Duchenne and Becker muscular dystrophy
property_value: closeMatch http://identifiers.org/snomedct/111501005
property_value: closeMatch http://identifiers.org/snomedct/193222002
property_value: exactMatch DOID:9883
property_value: exactMatch http://identifiers.org/meddra/10059117
property_value: exactMatch http://identifiers.org/mesh/C570377
property_value: exactMatch http://identifiers.org/omim/300376
property_value: exactMatch http://identifiers.org/snomedct/387732009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3490459
property_value: exactMatch NCIT:C84587
property_value: exactMatch Orphanet:98895
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy xsd:anyURI {source="GARD:0005900"}

[Term]
id: MONDO:0010312
name: radial ray deficiency, X-linked
synonym: "radial ray deficiency, X-linked" EXACT [OMIM:300378]
synonym: "Rrdx" RELATED [OMIM:300378]
xref: MESH:C564523 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300378 {source="MONDO:equivalentTo"}
xref: UMLS:C1845717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300378"}
is_a: MONDO:0003847 {source="MESH:C564523/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564523
property_value: exactMatch http://identifiers.org/omim/300378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845717

[Term]
id: MONDO:0010313
name: intellectual disability, X-linked 63
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACSL4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ACSL4-related intellectual disability" RELATED [GARD:0005613]
synonym: "mental retardation, X-linked 63" RELATED [MONDO:Lexical, OMIM:300387]
synonym: "mental retardation, X-linked 63; MRX63" RELATED [OMIM:300387]
synonym: "mental retardation, X-linked 68" RELATED [OMIM:300387]
synonym: "mental retardation, X-linked type 63" EXACT [MONDORULE:2, OMIM:300387]
synonym: "MRX63" RELATED [MONDO:Lexical, OMIM:300387]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" EXACT [MONDO:design_pattern]
xref: GARD:0005613 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564522 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300387 {source="MONDO:equivalentTo"}
xref: UMLS:C1845672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300387"}
is_a: MONDO:0019181 {source="DC-OMIM:300387", source="MONDO:Redundant", source="OMIM:300387"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564522
property_value: exactMatch http://identifiers.org/omim/300387
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845672

[Term]
id: MONDO:0010314
name: BPPX
synonym: "BPP" RELATED [OMIM:300388]
synonym: "BPPX" EXACT [MONDO:Lexical, OMIM:300388]
synonym: "perisylvian syndrome, congenital bilateral" RELATED [OMIM:300388]
synonym: "PMGX" RELATED [OMIM:300388]
synonym: "polymicrogyria, bilateral perisylvian, X-linked" RELATED [MONDO:Lexical, OMIM:300388]
synonym: "polymicrogyria, bilateral perisylvian, X-linked; BPPX" RELATED [OMIM:300388]
xref: OMIM:300388 {source="MONDO:equivalentTo"}
xref: SCTID:438583008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845668
property_value: exactMatch http://identifiers.org/omim/300388
property_value: exactMatch http://identifiers.org/snomedct/438583008

[Term]
id: MONDO:0010315
name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
def: "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:276]
subset: ordo_disease {source="Orphanet:276"}
synonym: "immunodeficiency 4" RELATED [OMIM:300400]
synonym: "SCID, X-linked" RELATED [OMIM:300400]
synonym: "SCID-X1" EXACT [DOID:0060013]
synonym: "SCIDX" RELATED [OMIM:300400]
synonym: "SCIDX1" EXACT [MONDO:Lexical, OMIM:300400, Orphanet:276]
synonym: "severe combined immunodeficiency T- B+ due to gamma chain deficiency" RELATED [GARD:0005618]
synonym: "severe combined immunodeficiency T- B+, X-linked" RELATED [GARD:0005618]
synonym: "severe combined immunodeficiency, X-linked" RELATED [MONDO:Lexical, OMIM:300400]
synonym: "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:300400]
synonym: "severe combined immunodeficiency, X-linked; SCIDX1" RELATED [OMIM:300400]
synonym: "T-B+ SCID due to gamma chain deficiency" EXACT [Orphanet:276]
synonym: "T-B+ severe combined immunodeficiency due to gamma chain deficiency" EXACT [Orphanet:276]
synonym: "T-B+ severe combined immunodeficiency, X-linked" EXACT [Orphanet:276]
synonym: "thymic epithelial hypoplasia" EXACT [DOID:0060013]
synonym: "X-linked SCID" RELATED [GARD:0005618]
synonym: "X-linked severe combined immunodeficiency" EXACT [DOID:0060013, NCIT:C4682]
synonym: "X-SCID" RELATED [GARD:0005618]
synonym: "XSCID" EXACT [DOID:0060013]
xref: DOID:0060013 {source="EFO:0005555", source="MONDO:equivalentTo"}
xref: EFO:0005555 {source="MONDO:equivalentTo"}
xref: GARD:0005618 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D81.2 {source="ORDO:276/attributed", source="ORDO:276/ntbt", source="Orphanet:276"}
xref: NCIT:C4682 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:300400 {source="DOID:0060013", source="MONDO:equivalentTo", source="ORDO:276/e", source="Orphanet:276"}
xref: Orphanet:276 {source="MONDO:equivalentTo", source="OMIM:300400"}
xref: SCTID:203592006 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0044200 {source="MONDOLEX:0010315", source="Orphanet:276"} ! T-B+ severe combined immunodeficiency
property_value: closeMatch http://identifiers.org/mesh/D053632
property_value: closeMatch http://identifiers.org/snomedct/234569003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1279481
property_value: exactMatch DOID:0060013
property_value: exactMatch http://identifiers.org/omim/300400
property_value: exactMatch http://identifiers.org/snomedct/203592006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931540
property_value: exactMatch NCIT:C4682
property_value: exactMatch Orphanet:276

[Term]
id: MONDO:0010316
name: FG syndrome 3
subset: gard_rare {source="GARD:0009924"}
synonym: "FG syndrome 3" EXACT [MONDO:Lexical, OMIM:300406]
synonym: "FG syndrome 3; FGS3" RELATED [OMIM:300406]
synonym: "FGS3" RELATED [GARD:0009924, MONDO:Lexical, OMIM:300406]
xref: GARD:0009924 {source="MONDO:equivalentTo"}
xref: OMIM:300406 {source="GARD:0009924", source="MONDO:equivalentTo"}
xref: UMLS:C1845567 {source="GARD:0009924", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300406"}
is_a: MONDO:0002010 {source="DC-OMIM:300406", source="MONDOLEX:0010316"} ! FG syndrome
property_value: exactMatch http://identifiers.org/omim/300406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845567
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3 xsd:anyURI {source="GARD:0009924"}

[Term]
id: MONDO:0010317
name: intellectual disability, X-linked, with or without seizures, arx-related
synonym: "arx-related intellectual disability" RELATED [GARD:0005614]
synonym: "mental retardation, X-linked 29" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 32" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 33" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 38" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 43" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 54" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 76" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 87" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked, with or without seizures, arx-related" RELATED [MONDO:Lexical, OMIM:300419]
synonym: "mental retardation, X-linked, with or without seizures, arx-RELATED; MRXARX" RELATED [OMIM:300419]
synonym: "MRXARX" RELATED [MONDO:Lexical, OMIM:300419]
xref: GARD:0005614 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563150 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300419 {source="MONDO:equivalentTo"}
xref: UMLS:C0796244 {source="OMIM:300419", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300419", source="OMIM:300419"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563150
property_value: exactMatch http://identifiers.org/omim/300419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796244

[Term]
id: MONDO:0010318
name: FG syndrome 4
def: "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009925"}
synonym: "CASK FG syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "cask FG syndrome" EXACT [MONDO:design_pattern]
synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422]
synonym: "FG syndrome 4; FGS4" RELATED [OMIM:300422]
synonym: "FG syndrome caused by mutation in CASK" EXACT []
synonym: "FG syndrome caused by mutation in cask" EXACT [MONDO:design_pattern]
synonym: "FG syndrome type 4" EXACT [MONDORULE:1, OMIM:300422]
synonym: "FGS4" RELATED [GARD:0009925, MONDO:Lexical, OMIM:300422]
synonym: "mental retardation, X-linked, with or without Nystagmus" RELATED [OMIM:300422]
synonym: "X-linked intellectual disability with or without nystagmus" RELATED [GARD:0009925]
xref: GARD:0009925 {source="MONDO:equivalentTo"}
xref: OMIM:300422 {source="GARD:0009925", source="MONDO:equivalentTo"}
xref: UMLS:CN033933 {source="MONDO:equivalentTo"}
is_a: MONDO:0002010 {source="DC-OMIM:300422", source="MONDO:Redundant", source="MONDOLEX:0010318"} ! FG syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845546
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275356
property_value: exactMatch http://identifiers.org/omim/300422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033933
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus xsd:anyURI {source="GARD:0009925"}

[Term]
id: MONDO:0010319
name: syndromic X-linked intellectual disability Hedera type
def: "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." [Orphanet:93952]
subset: ordo_disease {source="Orphanet:93952"}
synonym: "mental retardation, X-linked, syndromic, Hedera type" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423]
synonym: "mental retardation, X-linked, syndromic, Hedera type; MRXSH" RELATED [OMIM:300423]
synonym: "mental retardation, X-linked, with epilepsy" RELATED [OMIM:300423]
synonym: "MRXE" EXACT [DOID:0060806]
synonym: "MRXSH" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423, Orphanet:93952]
synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952]
synonym: "X-linked mental retardation with epilepsy" EXACT [DOID:0060806]
xref: DOID:0060806 {source="MONDO:equivalentTo"}
xref: MESH:C564516 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300423 {source="ORDO:93952/e", source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806"}
xref: Orphanet:93952 {source="MONDO:equivalentTo", source="OMIM:300423", source="DOID:0060806"}
xref: UMLS:C1845543 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300423"}
is_a: MONDO:0016160 {source="Orphanet:93952"} ! X-linked intellectual disability-epilepsy syndrome
is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder
property_value: exactMatch DOID:0060806
property_value: exactMatch http://identifiers.org/mesh/C564516
property_value: exactMatch http://identifiers.org/omim/300423
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845543
property_value: exactMatch Orphanet:93952

[Term]
id: MONDO:0010320
name: retinitis pigmentosa 23
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010391"}
synonym: "OFD1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 23" EXACT [MONDO:Lexical, OMIM:300424]
synonym: "retinitis pigmentosa 23; RP23" RELATED [OMIM:300424]
synonym: "retinitis pigmentosa caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 23" EXACT [DOID:0110412, MONDORULE:2, OMIM:300424]
synonym: "RP 23" RELATED [GARD:0010391]
synonym: "RP23" EXACT [DOID:0110412, MONDO:Lexical, OMIM:300424]
xref: DOID:0110412 {source="MONDO:equivalentTo"}
xref: GARD:0010391 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110412", source="MONDO:relatedTo"}
xref: OMIM:300424 {source="DOID:0110412", source="MONDO:equivalentTo"}
xref: UMLS:C1419610 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:300424"}
is_a: MONDO:0019200 {source="DC-OMIM:300424", source="DOID:0110412", source="MONDO:Redundant", source="OMIM:300424"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845542
property_value: exactMatch DOID:0110412
property_value: exactMatch http://identifiers.org/omim/300424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1419610
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23 xsd:anyURI {source="GARD:0010391"}

[Term]
id: MONDO:0010321
name: autism, susceptibility to, X-linked 1
subset: predisposition
synonym: "autism, susceptibility to, X-linked 1" EXACT [MONDO:Lexical, OMIM:300425]
synonym: "autism, susceptibility to, X-linked 1; AUTSX1" RELATED [OMIM:300425]
synonym: "autism, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300425]
synonym: "AUTSX1" RELATED [MONDO:Lexical, OMIM:300425]
synonym: "susceptibility to X-linked autism 1" RELATED [OMIM:300425]
xref: OMIM:300425 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300425"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845540
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/300425

[Term]
id: MONDO:0010322
name: MRX2
synonym: "mental retardation, X-linked 2" RELATED [MONDO:Lexical, OMIM:300428]
synonym: "mental retardation, X-linked 2; MRX2" RELATED [OMIM:300428]
synonym: "MRX2" EXACT [MONDO:Lexical, OMIM:300428]
xref: MESH:C563135 {source="MONDO:equivalentTo"}
xref: OMIM:300428 {source="MONDO:equivalentTo"}
xref: UMLS:C0796207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300428"}
is_a: MONDO:0019181 {source="DC-OMIM:300428", source="OMIM:300428"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563135
property_value: exactMatch http://identifiers.org/omim/300428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796207

[Term]
id: MONDO:0010323
name: Atkin-Flaitz syndrome
def: "Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." [Orphanet:1193]
subset: ordo_malformation_syndrome {source="Orphanet:1193"}
synonym: "Atkin syndrome" RELATED [OMIM:300431]
synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431]
synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193]
xref: GARD:0003537 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1193/attributed", source="ORDO:1193/ntbt", source="Orphanet:1193"}
xref: OMIM:300431 {source="MONDO:equivalentTo", source="ORDO:1193/e", source="Orphanet:1193"}
xref: Orphanet:1193 {source="MONDO:equivalentTo", source="OMIM:300431"}
xref: SCTID:718577005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:1193"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/300431
property_value: exactMatch http://identifiers.org/snomedct/718577005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796206
property_value: exactMatch Orphanet:1193

[Term]
id: MONDO:0010324
name: MRX81
synonym: "mental retardation, X-linked 81" RELATED [MONDO:Lexical, OMIM:300433]
synonym: "mental retardation, X-linked 81; MRX81" RELATED [OMIM:300433]
synonym: "MRX81" EXACT [MONDO:Lexical, OMIM:300433]
xref: MESH:C564515 {source="MONDO:equivalentTo"}
xref: OMIM:300433 {source="MONDO:equivalentTo"}
xref: UMLS:C1845531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300433"}
is_a: MONDO:0019181 {source="DC-OMIM:300433", source="OMIM:300433"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564515
property_value: exactMatch http://identifiers.org/omim/300433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845531

[Term]
id: MONDO:0010325
name: X-linked intellectual disability, Stocco dos Santos type
subset: ordo_malformation_syndrome {source="Orphanet:85288"}
synonym: "mental retardation, Stocco dos Santos type" RELATED [GARD:0001133]
synonym: "mental retardation, X-linked, Stocco Dos Santos type" RELATED [OMIM:300434]
synonym: "Sdsx" RELATED [OMIM:300434]
synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133]
synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED [OMIM:300434]
synonym: "Stocco DOS Santos X-linked mental retardation syndrome; SDSX" RELATED [OMIM:300434]
xref: GARD:0001133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:85288", source="ORDO:85288/attributed", source="ORDO:85288/ntbt"}
xref: MESH:C537495 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="ORDO:85288/e"}
xref: Orphanet:85288 {source="MONDO:equivalentTo", source="OMIM:300434"}
xref: SCTID:718910006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C1845530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300434"}
is_a: MONDO:0020119 {source="OMIM:300434", source="Orphanet:85288"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537495
property_value: exactMatch http://identifiers.org/omim/300434
property_value: exactMatch http://identifiers.org/snomedct/718910006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845530
property_value: exactMatch Orphanet:85288

[Term]
id: MONDO:0010326
name: intellectual disability, X-linked 46
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARHGEF6 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 46" RELATED [MONDO:Lexical, OMIM:300436]
synonym: "mental retardation, X-linked 46; MRX46" RELATED [OMIM:300436]
synonym: "mental retardation, X-linked type 46" EXACT [MONDORULE:2, OMIM:300436]
synonym: "MRX46" RELATED [MONDO:Lexical, OMIM:300436]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6" EXACT [MONDO:design_pattern]
xref: MESH:C564513 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300436 {source="MONDO:equivalentTo"}
xref: UMLS:C1845526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300436"}
is_a: MONDO:0019181 {source="DC-OMIM:300436", source="MONDO:Redundant", source="OMIM:300436"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564513
property_value: exactMatch http://identifiers.org/omim/300436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845526

[Term]
id: MONDO:0010327
name: HSD10 disease
def: "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." [Orphanet:391417]
subset: ordo_disease {source="Orphanet:391417"}
synonym: "17 beta-hydroxysteroid dehydrogenase type 10 deficiency" RELATED [GARD:0010716]
synonym: "17-Beta-hydroxysteroid dehydrogenase 10 deficiency" RELATED [OMIM:300438]
synonym: "17-BETA-hydroxysteroid dehydrogenase X deficiency" RELATED [OMIM:300438]
synonym: "2-methyl-3-hydroxybutyric aciduria" EXACT [Orphanet:391417]
synonym: "2-Methyl-3-hydroxybutyryl-Coa dehydrogenase deficiency" RELATED [OMIM:300438]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" EXACT [Orphanet:391417]
synonym: "2M3HBA" RELATED [GARD:0010716]
synonym: "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" RELATED [GARD:0010716]
synonym: "3-hydroxyacyl-Coa dehydrogenase 2 deficiency" RELATED [OMIM:300438]
synonym: "3H2MBD deficiency" RELATED [GARD:0010716]
synonym: "HSD10 deficiency" EXACT [OMIM:300438, Orphanet:391417]
synonym: "HSD10 mitochondrial disease" RELATED [OMIM:300438]
synonym: "HSD10 mitochondrial disease; HSD10MD" RELATED [OMIM:300438]
synonym: "HSD10MD" RELATED [OMIM:300438]
synonym: "Hsd17B10 deficiency" RELATED [OMIM:300438]
synonym: "hydroxyacyl-CoA dehydrogenase II deficiency" RELATED [GARD:0010716]
synonym: "MHBD deficiency" EXACT [Orphanet:391417]
synonym: "Mhbd deficiency" RELATED [OMIM:300438]
xref: GARD:0010716 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:391417", source="ORDO:391417/attributed", source="ORDO:391417/ntbt"}
xref: MESH:C536080 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300438 {source="Orphanet:391417", source="ORDO:391417/e", source="MONDO:equivalentTo"}
xref: Orphanet:391417 {source="MONDO:equivalentTo", source="OMIM:300438"}
xref: SCTID:791000124107 {source="MONDO:equivalentTo"}
xref: UMLS:CN204973 {source="MONDO:equivalentTo"}
is_a: MONDO:0015920 ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019213 {source="Orphanet:391417"} ! cerebral organic aciduria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845517
property_value: exactMatch http://identifiers.org/mesh/C536080
property_value: exactMatch http://identifiers.org/omim/300438
property_value: exactMatch http://identifiers.org/snomedct/791000124107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204973
property_value: exactMatch Orphanet:391417

[Term]
id: MONDO:0010328
name: alpha-thalassemia-myelodysplastic syndrome
def: "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." [Orphanet:231401]
subset: ordo_disease {source="Orphanet:231401"}
synonym: "acquired HbH disease" EXACT [Orphanet:231401]
synonym: "acquired hemoglobin H disease" EXACT [Orphanet:231401]
synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMIM:300448]
synonym: "ALPHA-thalassemia myelodysplasia syndrome; ATMDS" RELATED [OMIM:300448]
synonym: "ATMDS" EXACT [MONDO:Lexical, OMIM:300448, Orphanet:231401]
synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448]
xref: ICD10:D46.7 {source="ORDO:231401/attributed", source="ORDO:231401/ntbt", source="Orphanet:231401"}
xref: ICD10:D56.0 {source="MONDO:relatedTo", source="ORDO:231401/attributed", source="ORDO:231401/ntbt", source="Orphanet:231401"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563023 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source="ORDO:231401/e"}
xref: Orphanet:231401 {source="MONDO:equivalentTo", source="OMIM:300448"}
xref: SCTID:307343001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0585216 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:231401", source="OMIM:300448"}
is_a: MONDO:0016513 {source="Orphanet:231401"} ! alpha-thalassemia-related diseases
relationship: excluded_subClassOf MONDO:0021141 {notes="acquired through somatic mutations"} ! acquired
property_value: exactMatch http://identifiers.org/mesh/C563023
property_value: exactMatch http://identifiers.org/omim/300448
property_value: exactMatch http://identifiers.org/snomedct/307343001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585216
property_value: exactMatch Orphanet:231401

[Term]
id: MONDO:0010329
name: MRX77
synonym: "mental retardation, X-linked 77" RELATED [MONDO:Lexical, OMIM:300454]
synonym: "mental retardation, X-linked 77; MRX77" RELATED [OMIM:300454]
synonym: "MRX77" EXACT [MONDO:Lexical, OMIM:300454]
xref: MESH:C564511 {source="MONDO:equivalentTo"}
xref: OMIM:300454 {source="MONDO:equivalentTo"}
xref: UMLS:C1845499 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300454"}
is_a: MONDO:0019181 {source="DC-OMIM:300454", source="OMIM:300454"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564511
property_value: exactMatch http://identifiers.org/omim/300454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845499

[Term]
id: MONDO:0010330
name: primary ciliary dyskinesia-retinitis pigmentosa syndrome
def: "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." [Orphanet:247522]
subset: ordo_disease {source="Orphanet:247522"}
synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455]
xref: MESH:C567595 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300455 {source="ORDO:247522/e", source="Orphanet:247522", source="MONDO:equivalentTo"}
xref: Orphanet:247522 {source="MONDO:equivalentTo", source="OMIM:300455"}
xref: UMLS:C2749137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300455"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:247522"} ! respiratory system disease
is_a: MONDO:0020240 {source="Orphanet:247522"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C567595
property_value: exactMatch http://identifiers.org/omim/300455
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749137
property_value: exactMatch Orphanet:247522

[Term]
id: MONDO:0010331
name: coronary heart disease, susceptibility to, 3
subset: predisposition
synonym: "Chds3" RELATED [OMIM:300464]
synonym: "coronary heart disease, susceptibility to, 3" EXACT [OMIM:300464]
synonym: "coronary heart disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:300464]
xref: OMIM:300464 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDOLEX:0010331"} ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845454
property_value: exactMatch http://identifiers.org/omim/300464

[Term]
id: MONDO:0010332
name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
def: ", mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." [Orphanet:85280]
subset: ordo_malformation_syndrome {source="Orphanet:85280"}
synonym: "cubitus valgus with mental retardation and unusual facies" RELATED [OMIM:300471]
xref: ICD10:Q87.8 {source="ORDO:85280/attributed", source="ORDO:85280/ntbt", source="Orphanet:85280"}
xref: MESH:C564510 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300471 {source="MONDO:equivalentTo", source="ORDO:85280/e", source="Orphanet:85280"}
xref: Orphanet:85280 {source="OMIM:300471", source="MONDO:equivalentTo"}
xref: UMLS:C1845450 {source="OMIM:300471", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85280"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85280"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564510
property_value: exactMatch http://identifiers.org/omim/300471
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845450
property_value: exactMatch Orphanet:85280

[Term]
id: MONDO:0010333
name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
def: "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." [Orphanet:52055]
subset: ordo_malformation_syndrome {source="Orphanet:52055"}
synonym: "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome" RELATED [GARD:0012486]
synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT [DOID:0060816]
synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" RELATED [OMIM:300472]
synonym: "Graham-Cox syndrome" EXACT [DOID:0060816, Orphanet:52055]
synonym: "mental retardation, X-linked, syndromic 28" EXACT [DOID:0060816, OMIM:300472]
synonym: "MRXS28" EXACT [DOID:0060816]
xref: DOID:0060816 {source="MONDO:equivalentTo"}
xref: GARD:0012486 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:52055/attributed", source="ORDO:52055/ntbt", source="Orphanet:52055", source="DOID:0060816"}
xref: MESH:C564509 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300472 {source="MONDO:equivalentTo", source="ORDO:52055/e", source="Orphanet:52055", source="DOID:0060816"}
xref: Orphanet:52055 {source="OMIM:300472", source="MONDO:equivalentTo", source="DOID:0060816"}
xref: SCTID:722282008 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:52055"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:52055"} ! syndromic developmental defect of the eye
is_a: MONDO:0017122 {source="Orphanet:52055"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0020119 {source="DC-OMIM:300472", source="DOID:0060816", source="OMIM:300472", source="Orphanet:52055"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020149 {source="Orphanet:52055"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845446
property_value: exactMatch DOID:0060816
property_value: exactMatch http://identifiers.org/mesh/C564509
property_value: exactMatch http://identifiers.org/omim/300472
property_value: exactMatch http://identifiers.org/snomedct/722282008
property_value: exactMatch Orphanet:52055

[Term]
id: MONDO:0010334
name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
def: "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." [Orphanet:369939]
subset: ordo_malformation_syndrome {source="Orphanet:369939"}
synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475]
synonym: "DDCH" RELATED [MONDO:Lexical, OMIM:300475]
synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475]
synonym: "deafness, dystonia, and cerebral hypomyelination; DDCH" RELATED [OMIM:300475]
xref: ICD10:Q87.8 {source="ORDO:369939/attributed", source="ORDO:369939/ntbt", source="Orphanet:369939"}
xref: MESH:C564508 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300475 {source="MONDO:equivalentTo", source="Orphanet:369939", source="ORDO:369939/e"}
xref: Orphanet:369939 {source="MONDO:equivalentTo", source="OMIM:300475"}
xref: UMLS:CN204816 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:369939"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:300475"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0018265 {source="Orphanet:369939"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0019589 {source="Orphanet:369939"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845408
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806634
property_value: exactMatch http://identifiers.org/mesh/C564508
property_value: exactMatch http://identifiers.org/omim/300475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204816
property_value: exactMatch Orphanet:369939

[Term]
id: MONDO:0010335
name: X-linked cone-rod dystrophy 3
subset: gard_rare {source="GARD:0010654"}
synonym: "cone-rod dystrophy X-linked 3" RELATED [GARD:0010654]
synonym: "cone-rod dystrophy, X-linked, 3" RELATED [MONDO:Lexical, OMIM:300476]
synonym: "cone-rod dystrophy, X-linked, 3; CORDX3" RELATED [OMIM:300476]
synonym: "cone-rod dystrophy, X-linked, type 3" EXACT [MONDORULE:1, OMIM:300476]
synonym: "CORDX3" EXACT [DOID:0111007, MONDO:Lexical, OMIM:300476]
synonym: "X-linked cone-rod dystrophy type 3" EXACT [DOID:0111007, MONDORULE:1]
xref: DOID:0111007 {source="MONDO:equivalentTo"}
xref: GARD:0010654 {source="MONDO:equivalentTo"}
xref: MESH:C564507 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300476 {source="DOID:0111007", source="MONDO:equivalentTo"}
is_a: MONDO:0021155 ! X-linked cone-rod dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845407
property_value: exactMatch DOID:0111007
property_value: exactMatch http://identifiers.org/mesh/C564507
property_value: exactMatch http://identifiers.org/omim/300476
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3 xsd:anyURI {source="GARD:0010654"}

[Term]
id: MONDO:0010336
name: orofaciodigital syndrome VIII
def: "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." [Orphanet:2755]
subset: ordo_malformation_syndrome {source="Orphanet:2755"}
synonym: "Edwards syndrome" EXACT EXCLUDE [DOID:0060378]
synonym: "OFD syndrome 8" RELATED [GARD:0004060]
synonym: "OFD8" EXACT [DOID:0060378, MONDO:Lexical, OMIM:300484, Orphanet:2755]
synonym: "Ofds 8" RELATED [OMIM:300484]
synonym: "oral facial digital syndrome 8" RELATED [GARD:0004060]
synonym: "oral facial digital syndrome type 8" RELATED [GARD:0004060]
synonym: "oral-facial-digital syndrome type 8" EXACT [Orphanet:2755]
synonym: "oral-Facial-digital syndrome with hypoplastic Epiglottis" RELATED [OMIM:300484]
synonym: "oral-facial-digital syndrome, Edwards type" EXACT [Orphanet:2755]
synonym: "oral-Facial-digital syndrome, type 8" RELATED [OMIM:300484]
synonym: "orofaciodigital syndrome 8" RELATED [GARD:0004060]
synonym: "orofaciodigital syndrome type 8" RELATED [Orphanet:2755]
synonym: "orofaciodigital syndrome type VIII" EXACT [DOID:0060378, MONDORULE:3]
synonym: "orofaciodigital syndrome VIII" EXACT [MONDO:Lexical, OMIM:300484]
synonym: "orofaciodigital syndrome VIII; OFD8" RELATED [OMIM:300484]
synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755]
xref: DOID:0060378 {source="MONDO:equivalentTo"}
xref: GARD:0004060 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2755/attributed", source="ORDO:2755/ntbt", source="Orphanet:2755"}
xref: MESH:C557820 {source="DOID:0060378", source="MONDO:equivalentTo"}
xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="ORDO:2755/e"}
xref: Orphanet:2755 {source="DOID:0060378", source="OMIM:300484", source="MONDO:equivalentTo"}
xref: SCTID:722106001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.67/0.30/0.18"}
is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="Orphanet:2755", source="linkedlifedata"} ! orofaciodigital syndrome
is_a: MONDO:0019589 {source="Orphanet:2755"} ! syndromic genetic deafness
property_value: exactMatch DOID:0060378
property_value: exactMatch http://identifiers.org/mesh/C557820
property_value: exactMatch http://identifiers.org/omim/300484
property_value: exactMatch http://identifiers.org/snomedct/722106001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796101
property_value: exactMatch Orphanet:2755

[Term]
id: MONDO:0010337
name: X-linked intellectual disability-cerebellar hypoplasia syndrome
def: "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." [Orphanet:137831]
subset: gard_rare
subset: ordo_disease {source="Orphanet:137831"}
synonym: "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0013093]
synonym: "mental retardation x-linked 60 (formerly)" RELATED [GARD:0009947]
synonym: "mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0009947]
synonym: "mental retardation, X-linked 60" RELATED [OMIM:300486]
synonym: "mental retardation, X-linked 60, formerly" RELATED [OMIM:300486]
synonym: "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [OMIM:300486]
synonym: "MRX60 (formerly)" RELATED [GARD:0009947]
synonym: "Oligophrenin-1 syndrome" EXACT [Orphanet:137831]
synonym: "OPHN1 deficiency" RELATED [GARD:0013093]
synonym: "OPHN1 syndrome" EXACT [Orphanet:137831]
synonym: "OPHN1 XLMR" RELATED [GARD:0013093]
synonym: "OPHN1 XLMR, X-linked intellectual disability" RELATED [GARD:0013093]
synonym: "OPHN1- related XLID" RELATED [GARD:0013093]
synonym: "X-linked intellectual Deficit with cerebellar Hypoplasia" RELATED [GARD:0013093]
xref: DOID:0080311 {source="MONDO:equivalentTo"}
xref: GARD:0009947 {source="MONDO:equivalentTo"}
xref: GARD:0013093 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="Orphanet:137831", source="ORDO:137831/attributed", source="ORDO:137831/ntbt"}
xref: MESH:C537456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300486 {source="Orphanet:137831", source="ORDO:137831/e", source="GARD:0009947", source="MONDO:equivalentTo"}
xref: Orphanet:137831 {source="MONDO:equivalentTo", source="OMIM:300486"}
xref: SCTID:719136005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
is_a: MONDO:0017118 {source="Orphanet:137831"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020119 {source="Orphanet:137831"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845366
property_value: exactMatch DOID:0080311
property_value: exactMatch http://identifiers.org/mesh/C537456
property_value: exactMatch http://identifiers.org/omim/300486
property_value: exactMatch http://identifiers.org/snomedct/719136005
property_value: exactMatch Orphanet:137831
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance xsd:anyURI {source="GARD:0009947"}

[Term]
id: MONDO:0010338
name: X-linked distal spinal muscular atrophy type 3
def: "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." [Orphanet:139557]
subset: ordo_disease {source="Orphanet:139557"}
synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557]
synonym: "DSMAX" EXACT [Orphanet:139557]
synonym: "Dsmax" RELATED [OMIM:300489]
synonym: "SMAX3" EXACT [MONDO:Lexical, OMIM:300489, Orphanet:139557]
synonym: "spinal muscular atrophy caused by mutation in ATP7A" EXACT [MONDO:design_pattern]
synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical, OMIM:300489]
synonym: "spinal muscular atrophy, distal, X-linked 3; SMAX3" RELATED [OMIM:300489]
synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [OMIM:300489]
synonym: "spinal muscular atrophy, distal, X-linked type 3" EXACT [MONDORULE:1, OMIM:300489]
synonym: "X-linked dHMN type 3" EXACT [Orphanet:139557]
synonym: "X-linked dHMN3" EXACT [Orphanet:139557]
synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:139557]
synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557]
synonym: "X-linked dSMA3" EXACT [Orphanet:139557]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:139557", source="ORDO:139557/attributed", source="ORDO:139557/ntbt"}
xref: MESH:C564506 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300489 {source="ORDO:139557/e", source="Orphanet:139557", source="MONDO:equivalentTo"}
xref: Orphanet:139557 {source="MONDO:equivalentTo", source="OMIM:300489"}
xref: SCTID:766764008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845359 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:139557", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300489"}
is_a: MONDO:0001516 {source="DC-OMIM:300489", source="MESH:C564506", source="MONDO:Redundant"} ! spinal muscular atrophy
is_a: MONDO:0018451 {source="MONDOLEX:0010338", source="Orphanet:139557"} ! X-linked distal hereditary motor neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564506
property_value: exactMatch http://identifiers.org/omim/300489
property_value: exactMatch http://identifiers.org/snomedct/766764008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845359
property_value: exactMatch Orphanet:139557

[Term]
id: MONDO:0010339
name: X-linked epilepsy-learning disabilities-behavior disorders syndrome
def: "X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." [Orphanet:85294]
subset: ordo_disease {source="Orphanet:85294"}
synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491]
xref: ICD10:Q87.8 {source="ORDO:85294/attributed", source="ORDO:85294/ntbt", source="Orphanet:85294"}
xref: MESH:C564505 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300491 {source="MONDO:equivalentTo", source="ORDO:85294/e", source="Orphanet:85294"}
xref: Orphanet:85294 {source="OMIM:300491", source="MONDO:equivalentTo"}
xref: UMLS:C1845343 {source="OMIM:300491", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85294"}
is_a: MONDO:0015653 {source="Orphanet:85294"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="Orphanet:85294"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564505
property_value: exactMatch http://identifiers.org/omim/300491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845343
property_value: exactMatch Orphanet:85294

[Term]
id: MONDO:0010340
name: Asperger syndrome, X-linked, susceptibility to, 1
subset: predisposition
synonym: "Asperger syndrome, X-linked, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:300494]
synonym: "ASPERGER syndrome, X-linked, susceptibility to, 1; ASPGX1" RELATED [OMIM:300494]
synonym: "Asperger syndrome, X-linked, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:300494]
synonym: "ASPGX1" RELATED [MONDO:Lexical, OMIM:300494]
synonym: "susceptibility to X-linked asperger syndrome 1" RELATED [OMIM:300494]
xref: OMIM:300494 {source="MONDO:equivalentTo"}
xref: UMLS:C1845341 {source="OMIM:300494", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300494"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005259 ! Asperger syndrome
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/300494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845341

[Term]
id: MONDO:0010341
name: autism, susceptibility to, X-linked 2
def: "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." [MESH:D038901]
subset: predisposition
synonym: "autism, susceptibility to, X-linked 2" EXACT [MONDO:Lexical, OMIM:300495]
synonym: "autism, susceptibility to, X-linked 2; AUTSX2" RELATED [OMIM:300495]
synonym: "autism, susceptibility to, X-linked type 2" EXACT [MONDORULE:1, OMIM:300495]
synonym: "AUTSX2" RELATED [MONDO:Lexical, OMIM:300495]
synonym: "mental retardation, X-linked" RELATED [OMIM:300495]
synonym: "susceptibility to X-linked autism 2" RELATED [OMIM:300495]
xref: MESH:D038901 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300495 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300495"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1136249
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845539
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/mesh/D038901
property_value: exactMatch http://identifiers.org/omim/300495

[Term]
id: MONDO:0010342
name: autism, susceptibility to, X-linked 3
subset: predisposition
synonym: "autism, susceptibility to, X-linked 3" EXACT [MONDO:Lexical, OMIM:300496]
synonym: "autism, susceptibility to, X-linked 3; AUTSX3" RELATED [OMIM:300496]
synonym: "autism, susceptibility to, X-linked type 3" EXACT [MONDORULE:1, OMIM:300496]
synonym: "AUTSX3" RELATED [MONDO:Lexical, OMIM:300496]
synonym: "susceptibility to X-linked autism 3" RELATED [OMIM:300496]
xref: OMIM:300496 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300496"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845336
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/300496

[Term]
id: MONDO:0010343
name: Asperger syndrome, X-linked, susceptibility to, 2
subset: predisposition
synonym: "Asperger syndrome, X-linked, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:300497]
synonym: "ASPERGER syndrome, X-linked, susceptibility to, 2; ASPGX2" RELATED [OMIM:300497]
synonym: "Asperger syndrome, X-linked, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300497]
synonym: "ASPGX2" RELATED [MONDO:Lexical, OMIM:300497]
synonym: "susceptibility to X-linked asperger syndrome 2" RELATED [OMIM:300497]
xref: OMIM:300497 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005259 ! Asperger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845334
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/300497

[Term]
id: MONDO:0010344
name: intellectual disability, X-linked 45
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 45" RELATED [MONDO:Lexical, OMIM:300498]
synonym: "mental retardation, X-linked 45; MRX45" RELATED [OMIM:300498]
synonym: "mental retardation, X-linked type 45" EXACT [MONDORULE:2, OMIM:300498]
synonym: "MRX45" RELATED [MONDO:Lexical, OMIM:300498]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF81" EXACT [MONDO:design_pattern]
synonym: "ZNF81 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564503 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300498 {source="MONDO:equivalentTo"}
xref: UMLS:C1845333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300498"}
is_a: MONDO:0019181 {source="DC-OMIM:300498", source="MONDO:Redundant", source="OMIM:300498"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564503
property_value: exactMatch http://identifiers.org/omim/300498
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845333

[Term]
id: MONDO:0010345
name: obsolete ocular albinism
is_obsolete: true
replaced_by: MONDO:0017304

[Term]
id: MONDO:0010346
name: MRX52
synonym: "mental retardation, X-linked 52" RELATED [MONDO:Lexical, OMIM:300504]
synonym: "mental retardation, X-linked 52; MRX52" RELATED [OMIM:300504]
synonym: "MRX52" EXACT [MONDO:Lexical, OMIM:300504]
xref: MESH:C564502 {source="MONDO:equivalentTo"}
xref: OMIM:300504 {source="MONDO:equivalentTo"}
xref: UMLS:C1845298 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300504"}
is_a: MONDO:0019181 {source="DC-OMIM:300504", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564502
property_value: exactMatch http://identifiers.org/omim/300504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845298

[Term]
id: MONDO:0010347
name: MRX84
synonym: "mental retardation, X-linked 84" RELATED [MONDO:Lexical, OMIM:300505]
synonym: "mental retardation, X-linked 84; MRX84" RELATED [OMIM:300505]
synonym: "MRX84" EXACT [MONDO:Lexical, OMIM:300505]
xref: MESH:C564501 {source="MONDO:equivalentTo"}
xref: OMIM:300505 {source="MONDO:equivalentTo"}
xref: UMLS:C1845297 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300505"}
is_a: MONDO:0019181 {source="DC-OMIM:300505", source="OMIM:300505"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564501
property_value: exactMatch http://identifiers.org/omim/300505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845297

[Term]
id: MONDO:0010348
name: dyslexia, susceptibility to, 9
subset: predisposition
synonym: "dyslexia, susceptibility to, 9" RELATED [OMIM:300509]
synonym: "dyslexia, susceptibility to, 9; DYX9" RELATED [OMIM:300509]
synonym: "DYX9" EXACT [MONDO:Lexical, OMIM:300509]
xref: OMIM:300509 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:300509"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845296
property_value: exactMatch http://identifiers.org/omim/300509

[Term]
id: MONDO:0010349
name: ovarian dysgenesis 2
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMP15 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ODG2" RELATED [MONDO:Lexical, OMIM:300510]
synonym: "ovarian dysgenesis 2" EXACT [MONDO:Lexical, OMIM:300510]
synonym: "ovarian dysgenesis 2; ODG2" RELATED [OMIM:300510]
synonym: "ovarian dysgenesis type 2" EXACT [MONDORULE:1, OMIM:300510]
synonym: "ovarian dysgenesis, hypergonadotropic, X-linked" RELATED [OMIM:300510]
synonym: "ovarian failure, hypergonadotropic, due to ovarian dysgenesis" RELATED [OMIM:300510]
synonym: "premature ovarian failure 4" RELATED [OMIM:300510]
synonym: "primary ovarian failure caused by mutation in BMP15" EXACT [MONDO:design_pattern]
xref: MESH:C564499 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300510 {source="MONDO:equivalentTo"}
xref: UMLS:C1845294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300510"}
is_a: MONDO:0009299 {source="MONDOLEX:0010349", source="OMIM:300510", source="ORDO:243/btnt"} ! 46 XX gonadal dysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845295
property_value: exactMatch http://identifiers.org/mesh/C564499
property_value: exactMatch http://identifiers.org/omim/300510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845294

[Term]
id: MONDO:0010350
name: premature ovarian failure 2A
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DIAPH2 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF2A" RELATED [MONDO:Lexical, OMIM:300511]
synonym: "premature ovarian failure 2A" EXACT [MONDO:Lexical, OMIM:300511]
synonym: "premature ovarian failure 2A; POF2A" RELATED [OMIM:300511]
synonym: "premature ovarian failure type 2A" EXACT [MONDORULE:4, OMIM:300511]
synonym: "primary ovarian failure caused by mutation in DIAPH2" EXACT [MONDO:design_pattern]
xref: MESH:C564498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300511 {source="MONDO:equivalentTo"}
xref: UMLS:C1845293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300511"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C564498
property_value: exactMatch http://identifiers.org/omim/300511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845293

[Term]
id: MONDO:0010351
name: Fanconi anemia complementation group b
def: "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." [NCIT:C125703]
synonym: "FA2" EXACT [DOID:0111098]
synonym: "FACB" EXACT [DOID:0111098]
synonym: "facb" RELATED [OMIM:300514]
synonym: "FANCB" EXACT [DOID:0111098, MONDO:Lexical, OMIM:300514]
synonym: "Fanconi anemia complementation group type B" EXACT [DOID:0111098, MONDORULE:1]
synonym: "Fanconi anemia, complementation group B" RELATED [MONDO:Lexical, OMIM:300514]
synonym: "Fanconi anemia, complementation group B; FANCB" RELATED [OMIM:300514]
synonym: "Fanconi Anemia, complementation group type B" EXACT [MONDORULE:1, OMIM:300514]
synonym: "Fanconi pancytopenia type 2" EXACT [DOID:0111098]
synonym: "Fanconi pancytopenia, type 2" RELATED [OMIM:300514]
xref: DOID:0111098 {source="MONDO:equivalentTo"}
xref: MESH:C564497 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125703 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:300514 {source="MONDO:equivalentTo", source="DOID:0111098"}
xref: UMLS:C1845292 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300514", source="NCIT:C125703"}
is_a: MONDO:0019391 {source="DC-OMIM:300514", source="DOID:0111098", source="MESH:C564497", source="NCIT:C125703", source="OMIM:300514"} ! Fanconi anemia
property_value: exactMatch DOID:0111098
property_value: exactMatch http://identifiers.org/mesh/C564497
property_value: exactMatch http://identifiers.org/omim/300514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845292
property_value: exactMatch NCIT:C125703

[Term]
id: MONDO:0010352
name: MRX82
synonym: "mental retardation, X-linked 82" RELATED [MONDO:Lexical, OMIM:300518]
synonym: "mental retardation, X-linked 82; MRX82" RELATED [OMIM:300518]
synonym: "MRX82" EXACT [MONDO:Lexical, OMIM:300518]
xref: MESH:C564496 {source="MONDO:equivalentTo"}
xref: OMIM:300518 {source="MONDO:equivalentTo"}
xref: UMLS:C1845286 {source="OMIM:300518", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300518", source="OMIM:300518"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564496
property_value: exactMatch http://identifiers.org/omim/300518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845286

[Term]
id: MONDO:0010353
name: deafness-intellectual disability, Martin-Probst type syndrome
def: "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome." [Orphanet:85321]
subset: ordo_malformation_syndrome {source="Orphanet:85321"}
synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [Orphanet:85321]
synonym: "Martin-Probst deafness-mental retardation syndrome" RELATED [OMIM:300519]
synonym: "Martin-Probst syndrome" EXACT [DOID:0060830, Orphanet:85321]
synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical, OMIM:300519]
synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT [DOID:0060830]
synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type; MRXSMP" RELATED [OMIM:300519]
synonym: "MRXSMP" RELATED [MONDO:Lexical, OMIM:300519]
synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321]
xref: DOID:0060830 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85321", source="DOID:0060830", source="ORDO:85321/attributed", source="ORDO:85321/ntbt"}
xref: MESH:C564495 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="DOID:0060830", source="ORDO:85321/e"}
xref: Orphanet:85321 {source="OMIM:300519", source="MONDO:equivalentTo", source="DOID:0060830"}
xref: SCTID:721087008 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:85321"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:85321"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="DC-OMIM:300519", source="DOID:0060830", source="OMIM:300519", source="Orphanet:85321"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020768 ! X-linked deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845285
property_value: exactMatch DOID:0060830
property_value: exactMatch http://identifiers.org/mesh/C564495
property_value: exactMatch http://identifiers.org/omim/300519
property_value: exactMatch http://identifiers.org/snomedct/721087008
property_value: exactMatch Orphanet:85321

[Term]
id: MONDO:0010354
name: Allan-Herndon-Dudley syndrome
def: "Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." [Orphanet:59]
subset: gard_rare {source="GARD:0005617"}
subset: ordo_clinical_subtype {source="Orphanet:59"}
synonym: "AHDS" EXACT [MONDO:Lexical, OMIM:300523, Orphanet:59]
synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631]
synonym: "Allan-Herndon syndrome" RELATED [OMIM:300523]
synonym: "Allan-Herndon-Dudley syndrome" EXACT [MONDO:Lexical, OMIM:300523]
synonym: "ALLAN-Herndon-DUDLEY syndrome; AHDS" RELATED [OMIM:300523]
synonym: "intellectual disability and muscular atrophy" RELATED [GARD:0005617]
synonym: "MCT8 deficiency" EXACT [Orphanet:59]
synonym: "MCT8-specific thyroid hormone cell Membrane transporter deficiency" EXACT [NCIT:C118843]
synonym: "mental retardation and muscular atrophy" RELATED [OMIM:300523]
synonym: "mental retardation, X-linked, with hypotonia" RELATED [OMIM:300523]
synonym: "monocarboxylate transporter 8 deficiency" EXACT [OMIM:300523, Orphanet:59]
synonym: "monocarboxylate transporter-8 deficiency" RELATED [GARD:0005617]
synonym: "T3 resisitence" RELATED [GARD:0005617]
synonym: "T3 resistance" RELATED [OMIM:300523]
synonym: "triiodothyronine resistance" RELATED [OMIM:300523]
synonym: "triiodothyronine resistence" RELATED [GARD:0005617]
synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617]
synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59]
xref: DOID:0050631 {source="MONDO:equivalentTo"}
xref: GARD:0005617 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="ORDO:59/attributed", source="ORDO:59/ntbt"}
xref: ICD10:G31.8 {source="Orphanet:59"}
xref: MESH:C537047 {source="ORDO:59/e", source="MONDO:equivalentTo", source="Orphanet:59", source="MONDO:ontobio"}
xref: NCIT:C118843 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:300523 {source="ORDO:59/e", source="DOID:0050631", source="MONDO:equivalentTo", source="Orphanet:59"}
xref: Orphanet:59 {source="MONDO:equivalentTo", source="OMIM:300523"}
xref: SCTID:702327009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0795889 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118843", source="Orphanet:59", source="OMIM:300523"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015150 ! complex hereditary spastic paraplegia
is_a: MONDO:0015778 ! syndromic hypothyroidism
is_a: MONDO:0016412 {source="Orphanet:59"} ! peripheral hypothyroidism
is_a: MONDO:0017226 {source="Orphanet:59"} ! Pelizaeus-Merzbacher-like disease
is_a: MONDO:0017916 {source="Orphanet:59"} ! pure or complex X-linked spastic paraplegia
is_a: MONDO:0020119 {source="Orphanet:59"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0050631
property_value: exactMatch http://identifiers.org/mesh/C537047
property_value: exactMatch http://identifiers.org/omim/300523
property_value: exactMatch http://identifiers.org/snomedct/702327009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795889
property_value: exactMatch NCIT:C118843
property_value: exactMatch Orphanet:59
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome xsd:anyURI {source="GARD:0005617"}

[Term]
id: MONDO:0010355
name: syndromic X-linked intellectual disability Claes-Jensen type
subset: ordo_malformation_syndrome {source="Orphanet:85279"}
synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534]
synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ" RELATED [OMIM:300534]
synonym: "mental retardation, X-linked, syndromic, JARID1C-related" RELATED [OMIM:300534]
synonym: "MRXSCJ" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534]
synonym: "MRXSJ" EXACT [DOID:0060809]
synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [DOID:0060809]
synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT [DOID:0060809]
xref: DOID:0060809 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85279", source="DOID:0060809", source="ORDO:85279/attributed", source="ORDO:85279/ntbt"}
xref: MESH:C564494 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300534 {source="ORDO:85279/e", source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo"}
xref: Orphanet:85279 {source="DOID:0060809", source="MONDO:equivalentTo", source="OMIM:300534"}
xref: SCTID:719161008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1845243 {source="Orphanet:85279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:300534"}
xref: UMLS:C4304915 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300534", source="DOID:0060809", source="OMIM:300534", source="Orphanet:85279"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:85279"} ! monogenic epilepsy
property_value: exactMatch DOID:0060809
property_value: exactMatch http://identifiers.org/mesh/C564494
property_value: exactMatch http://identifiers.org/omim/300534
property_value: exactMatch http://identifiers.org/snomedct/719161008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304915
property_value: exactMatch Orphanet:85279

[Term]
id: MONDO:0010356
name: nephrogenic syndrome of inappropriate antidiuresis
def: "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." [Orphanet:93606]
subset: ordo_disease {source="Orphanet:93606"}
synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539]
synonym: "nephrogenic syndrome of inappropriate antidiuresis; NSIAD" RELATED [OMIM:300539]
synonym: "NSIAD" EXACT [MONDO:Lexical, OMIM:300539, Orphanet:93606]
xref: ICD10:E22.2 {source="ORDO:93606/attributed", source="ORDO:93606/ntbt", source="Orphanet:93606"}
xref: MESH:C564491 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300539 {source="MONDO:equivalentTo", source="ORDO:93606/e", source="Orphanet:93606"}
xref: Orphanet:93606 {source="MONDO:equivalentTo", source="OMIM:300539"}
xref: SCTID:723440000 {source="MONDO:equivalentTo"}
xref: UMLS:C1845202 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300539", source="Orphanet:93606"}
is_a: MONDO:0015962 {source="Orphanet:93606"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:93606"} ! rare renal tubular disease
property_value: exactMatch http://identifiers.org/mesh/C564491
property_value: exactMatch http://identifiers.org/omim/300539
property_value: exactMatch http://identifiers.org/snomedct/723440000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845202
property_value: exactMatch Orphanet:93606

[Term]
id: MONDO:0010357
name: MRX78
synonym: "mental retardation, X-linked 78" RELATED [MONDO:Lexical, OMIM:300551]
synonym: "mental retardation, X-linked 78; MRX78" RELATED [OMIM:300551]
synonym: "moved to 309530" RELATED [OMIM:300551]
synonym: "MRX78" EXACT [MONDO:Lexical, OMIM:300551]
xref: MESH:C564489 {source="MONDO:equivalentTo"}
xref: OMIM:300551 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300551"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845181
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931498
property_value: exactMatch http://identifiers.org/mesh/C564489
property_value: exactMatch http://identifiers.org/omim/300551

[Term]
id: MONDO:0010358
name: hypophosphatemic rickets, X-linked recessive
def: "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations
synonym: "CLCN5 X-linked hypophosphatemic rickets" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemic rickets, X-linked recessive" EXACT [OMIM:300554]
synonym: "X-linked hypophosphatemic rickets caused by mutation in CLCN5" EXACT []
xref: DOID:0080353 {source="MONDO:equivalentTo"}
xref: OMIM:300554 {source="DOID:0080353", source="MONDO:equivalentTo"}
is_a: MONDO:0020605 ! X-linked recessive disease
is_a: MONDO:0020720 ! X-linked hypophosphatemic rickets (recessive or dominant)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845168
property_value: exactMatch DOID:0080353
property_value: exactMatch http://identifiers.org/omim/300554

[Term]
id: MONDO:0010359
name: Dent disease type 2
def: "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." [Orphanet:93623]
subset: ordo_clinical_subtype {source="Orphanet:93623"}
synonym: "DENT disease 2" RELATED [OMIM:300555]
synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern]
synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555]
synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623]
synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:N25.8 {source="ORDO:93623/attributed", source="ORDO:93623/ntbt", source="Orphanet:93623"}
xref: OMIM:300555 {source="MONDO:equivalentTo", source="ORDO:93623/e", source="Orphanet:93623"}
xref: Orphanet:93623 {source="MONDO:equivalentTo", source="OMIM:300555"}
xref: SCTID:717790004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1845167 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300555", source="Orphanet:93623"}
xref: UMLS:C4305529 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015612 {source="DC-OMIM:300555", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623", source="linkedlifedata"} ! Dent disease
property_value: exactMatch http://identifiers.org/omim/300555
property_value: exactMatch http://identifiers.org/snomedct/717790004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305529
property_value: exactMatch Orphanet:93623

[Term]
id: MONDO:0010360
name: PARK12
synonym: "PARK12" EXACT [MONDO:Lexical, OMIM:300557]
synonym: "Parkinson disease 12" RELATED [MONDO:Lexical, OMIM:300557]
synonym: "Parkinson disease 12; PARK12" RELATED [OMIM:300557]
synonym: "Parkinson disease, X-linked" RELATED [OMIM:300557]
xref: MESH:C564486 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300557 {source="MONDO:equivalentTo"}
xref: UMLS:C1845165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300557"}
is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C564486
property_value: exactMatch http://identifiers.org/omim/300557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845165

[Term]
id: MONDO:0010361
name: intellectual disability, X-linked 30
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 30" RELATED [MONDO:Lexical, OMIM:300558]
synonym: "mental retardation, X-linked 30; MRX30" RELATED [OMIM:300558]
synonym: "mental retardation, X-linked 47" RELATED [OMIM:300558]
synonym: "mental retardation, X-linked type 30" EXACT [MONDORULE:2, OMIM:300558]
synonym: "MRX30" RELATED [MONDO:Lexical, OMIM:300558]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in PAK3" EXACT [MONDO:design_pattern]
synonym: "PAK3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300558 {source="MONDO:equivalentTo"}
xref: UMLS:C0796237 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300558"}
is_a: MONDO:0019181 {source="DC-OMIM:300558", source="MONDO:Redundant", source="OMIM:300558"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796249
property_value: exactMatch http://identifiers.org/omim/300558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796237

[Term]
id: MONDO:0010362
name: glycogen storage disease IXd
def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
subset: gard_rare
subset: ordo_disease {source="Orphanet:715"}
synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "glycogen storage disease type 9E" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogen storage disease type IXd" EXACT [DOID:0111040, MONDORULE:5, Orphanet:715]
synonym: "glycogen storage disease type IXe" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogen storage disease, type IXd" RELATED [MONDO:Lexical, OMIM:300559]
synonym: "glycogen storage disease, type IXd; GSD9D" RELATED [OMIM:300559]
synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type 9D" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type 9E" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type IXd" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type IXe" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715]
synonym: "GSD IXd" EXACT [DOID:0111040]
synonym: "GSD type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "GSD type 9E" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD type IXd" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "GSD type IXe" EXACT EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD Vb" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Nomenclature]
synonym: "GSD9D" EXACT [DOID:0111040, MONDO:Lexical, OMIM:300559]
synonym: "muscle glycogenosis, X-linked" RELATED [OMIM:300559]
synonym: "muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, OMIM:300559]
synonym: "muscular phosphorylase kinase deficiency" RELATED [GARD:0003858]
synonym: "PHKA1 glycogen storage disease" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "X-linked muscke glycogenosis" EXACT EXCLUDE [DOID:0111040]
xref: DOID:0111040 {source="MONDO:equivalentTo"}
xref: GARD:0003858 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:715/attributed", source="ORDO:715/ntbt", source="Orphanet:715", source="DOID:0111040"}
xref: MESH:C564485 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300559 {source="ORDO:715/e", source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"}
xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source="GARD:0003858", source="OMIM:300559"}
is_a: MONDO:0016118 {source="Orphanet:715"} ! muscular glycogenosis
is_a: MONDO:0018251 {source="DOID:0111040", source="MONDOLEX:0010362", source="Orphanet:715"} ! glycogen storage disease due to phosphorylase kinase deficiency
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845151
property_value: exactMatch DOID:0111040
property_value: exactMatch http://identifiers.org/mesh/C564485
property_value: exactMatch http://identifiers.org/omim/300559
property_value: exactMatch Orphanet:715
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency xsd:anyURI {source="GARD:0003858"}

[Term]
id: MONDO:0010363
name: intellectual disability, X-linked 91
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 91" RELATED [MONDO:Lexical, OMIM:300577]
synonym: "mental retardation, X-linked 91; MRX91" RELATED [OMIM:300577]
synonym: "mental retardation, X-linked type 91" EXACT [MONDORULE:2, OMIM:300577]
synonym: "MRX91" RELATED [MONDO:Lexical, OMIM:300577]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15" EXACT [MONDO:design_pattern]
synonym: "ZDHHC15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564482 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300577 {source="MONDO:equivalentTo"}
xref: UMLS:C1845142 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300577"}
is_a: MONDO:0019181 {source="DC-OMIM:300577", source="MONDO:Redundant", source="OMIM:300577"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564482
property_value: exactMatch http://identifiers.org/omim/300577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845142

[Term]
id: MONDO:0010364
name: X-linked intellectual disability-retinitis pigmentosa syndrome
def: "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." [Orphanet:85332]
subset: ordo_disease {source="Orphanet:85332"}
synonym: "Aldred syndrome" EXACT [Orphanet:85332]
synonym: "chromosome Xp11.3 deletion syndrome" RELATED [OMIM:300578]
synonym: "mental retardation, X-linked, with retinitis pigmentosa" RELATED [OMIM:300578]
synonym: "nonspecific mental retardation associated with retinitis pigmentosa" RELATED [GARD:0008360]
synonym: "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" EXACT [Orphanet:85332]
synonym: "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" EXACT [Orphanet:85332]
synonym: "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" EXACT [Orphanet:85332]
synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" RELATED [GARD:0008360]
xref: GARD:0008360 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="ORDO:85332/attributed", source="ORDO:85332/ntbt"}
xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="ORDO:85332/e"}
xref: Orphanet:85332 {source="MONDO:equivalentTo", source="OMIM:300578"}
xref: SCTID:719808002 {source="MONDO:kboom-pr-1.00/0.75/6.82", source="MONDO:equivalentTo"}
xref: UMLS:C0795873 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:85332", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:300578"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017004 {source="Orphanet:85332"} ! partial monosomy of the short arm of chromosome X
is_a: MONDO:0020119 {source="Orphanet:85332"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845136
property_value: exactMatch http://identifiers.org/omim/300578
property_value: exactMatch http://identifiers.org/snomedct/719808002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795873
property_value: exactMatch Orphanet:85332

[Term]
id: MONDO:0010365
name: CFTDX
synonym: "CFTDX" EXACT [MONDO:Lexical, OMIM:300580]
synonym: "myopathy, congenital, with fiber-type disproportion, X-linked" RELATED [MONDO:Lexical, OMIM:300580]
synonym: "myopathy, congenital, with fiber-type disproportion, X-linked; CFTDX" RELATED [OMIM:300580]
xref: MESH:C567594 {source="MONDO:equivalentTo"}
xref: OMIM:300580 {source="MONDO:equivalentTo"}
xref: UMLS:C2749128 {source="OMIM:300580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009711 {source="MONDOLEX:0010365", source="ORDO:2020/btnt"} ! congenital fiber-type disproportion myopathy
property_value: exactMatch http://identifiers.org/mesh/C567594
property_value: exactMatch http://identifiers.org/omim/300580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749128

[Term]
id: MONDO:0010366
name: FG syndrome 5
synonym: "FG syndrome 5" EXACT [MONDO:Lexical, OMIM:300581]
synonym: "FG syndrome 5; FGS5" RELATED [OMIM:300581]
synonym: "FGS5" RELATED [MONDO:Lexical, OMIM:300581]
xref: MESH:C564480 {source="MONDO:equivalentTo"}
xref: OMIM:300581 {source="MONDO:equivalentTo"}
xref: UMLS:C1845119 {source="OMIM:300581", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002010 {source="DC-OMIM:300581", source="MONDOLEX:0010366"} ! FG syndrome
property_value: exactMatch http://identifiers.org/mesh/C564480
property_value: exactMatch http://identifiers.org/omim/300581
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845119

[Term]
id: MONDO:0010367
name: SHOX-related short stature
def: "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." [Orphanet:314795]
subset: ordo_disease {source="Orphanet:314795"}
synonym: "ISS" RELATED [MONDO:Lexical, OMIM:300582]
synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582]
synonym: "short stature, idiopathic, X-linked; ISS" RELATED [OMIM:300582]
xref: EFO:0008989 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:314795/attributed", source="ORDO:314795/ntbt", source="Orphanet:314795"}
xref: MESH:C564479 {source="MONDO:equivalentTo"}
xref: OMIM:300582 {source="MONDO:equivalentTo", source="Orphanet:314795", source="ORDO:314795/e"}
xref: Orphanet:314795 {source="OMIM:300582", source="MONDO:equivalentTo"}
xref: SCTID:763868006 {source="MONDO:equivalentTo"}
is_a: MONDO:0019697 {source="Orphanet:314795"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845118
property_value: exactMatch http://identifiers.org/mesh/C564479
property_value: exactMatch http://identifiers.org/omim/300582
property_value: exactMatch http://identifiers.org/snomedct/763868006
property_value: exactMatch Orphanet:314795

[Term]
id: MONDO:0010368
name: immunodeficiency without anhidrotic ectodermal dysplasia
subset: gard_rare {source="GARD:0009917"}
synonym: "immunodeficiency without anhidrotic ectodermal dysplasia" EXACT [OMIM:300584]
synonym: "immunodeficiency, isolated" RELATED [OMIM:300584]
synonym: "immunodeficiency, Pure" RELATED [OMIM:300584]
xref: GARD:0009917 {source="MONDO:equivalentTo"}
xref: MESH:C536289 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300584 {source="MONDO:equivalentTo"}
xref: UMLS:C1845117 {source="OMIM:300584", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:300584", source="MESH:C536289"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/mesh/C536289
property_value: exactMatch http://identifiers.org/omim/300584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845117
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia xsd:anyURI {source="GARD:0009917"}

[Term]
id: MONDO:0010369
name: NYS5
synonym: "NYS5" EXACT [MONDO:Lexical, OMIM:300589]
synonym: "NYSTAGMUS 5, congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300589]
synonym: "NYSTAGMUS 5, congenital, X-linked; NYS5" RELATED [OMIM:300589]
xref: OMIM:300589 {source="MONDO:equivalentTo"}
xref: UMLS:C1845116 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300589"}
is_a: MONDO:0005712 {source="DC-OMIM:300589", source="OMIM:300589"} ! congenital nystagmus
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/omim/300589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845116

[Term]
id: MONDO:0010370
name: Cornelia de Lange syndrome 2
def: "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." [NCIT:C75485]
synonym: "Cdls, X-linked" RELATED [OMIM:300590]
synonym: "CDLS2" RELATED [MONDO:Lexical, OMIM:300590]
synonym: "Cornelia de Lange syndrome 2" EXACT [MONDO:Lexical, OMIM:300590]
synonym: "Cornelia DE Lange syndrome 2; CDLS2" RELATED [OMIM:300590]
synonym: "Cornelia de Lange syndrome caused by mutation in SMC1A" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 2" EXACT [MONDORULE:1, OMIM:300590]
synonym: "Cornelia De Lange syndrome, X-linked" RELATED [OMIM:300590]
synonym: "SMC1A Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked Cornelia De Lange syndrome" EXACT [NCIT:C75485]
xref: NCIT:C75485 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: OMIM:300590 {source="MONDO:equivalentTo"}
xref: UMLS:C1802395 {source="OMIM:300590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75485"}
is_a: MONDO:0016033 {source="DC-OMIM:300590", source="MONDO:Redundant", source="NCIT:C75485", source="OMIM:300590"} ! Cornelia de Lange syndrome
property_value: exactMatch http://identifiers.org/omim/300590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1802395
property_value: exactMatch NCIT:C75485

[Term]
id: MONDO:0010371
name: Aland island eye disease
def: "Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." [Orphanet:178333]
subset: ordo_disease {source="Orphanet:178333"}
synonym: "AIED" EXACT [Orphanet:178333]
synonym: "AIED" RELATED [MONDO:Lexical, OMIM:300600]
synonym: "Aland island eye disease" EXACT [MONDO:Lexical, OMIM:300600]
synonym: "ALAND ISLAND eye disease; AIED" RELATED [OMIM:300600]
synonym: "Forsius Eriksson type ocular albinism" RELATED [GARD:0010574]
synonym: "Forsius-Eriksson syndrome" EXACT [DOID:0050630, Orphanet:178333]
synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630]
synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:178333]
synonym: "Åland Islands eye disease" RELATED [Orphanet:178333]
xref: DOID:0050630 {source="MONDO:equivalentTo"}
xref: GARD:0010574 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="Orphanet:178333", source="ORDO:178333/attributed", source="ORDO:178333/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C562664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="ORDO:178333/e", source="MONDO:equivalentTo"}
xref: Orphanet:178333 {source="MONDO:equivalentTo", source="OMIM:300600"}
xref: SCTID:266455006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268505 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:178333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300600"}
is_a: MONDO:0019118 {source="Orphanet:178333"} ! inherited retinal dystrophy
property_value: exactMatch DOID:0050630
property_value: exactMatch http://identifiers.org/mesh/C562664
property_value: exactMatch http://identifiers.org/omim/300600
property_value: exactMatch http://identifiers.org/snomedct/266455006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268505
property_value: exactMatch Orphanet:178333

[Term]
id: MONDO:0010372
name: Clark-Baraitser syndrome
subset: gard_rare {source="GARD:0009994"}
synonym: "Baraitser syndrome" RELATED [OMIM:300602]
synonym: "Clark-Baraitser syndrome" EXACT [OMIM:300602]
synonym: "mental retardation, tall stature, obesity, macrocephaly and typical facial features" RELATED [GARD:0009994]
xref: GARD:0009994 {source="MONDO:equivalentTo"}
xref: MESH:C536208 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300602 {source="MONDO:equivalentTo"}
xref: UMLS:C2931130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300602"}
is_a: MONDO:0003847 {source="MESH:C536208/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536208
property_value: exactMatch http://identifiers.org/omim/300602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931130
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome xsd:anyURI {source="GARD:0009994"}

[Term]
id: MONDO:0010373
name: premature ovarian failure 2B
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "POF1B primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF2B" RELATED [MONDO:Lexical, OMIM:300604]
synonym: "premature ovarian failure 2B" EXACT [MONDO:Lexical, OMIM:300604]
synonym: "premature ovarian failure 2B; POF2B" RELATED [OMIM:300604]
synonym: "premature ovarian failure type 2B" EXACT [MONDORULE:4, OMIM:300604]
synonym: "primary ovarian failure caused by mutation in POF1B" EXACT [MONDO:design_pattern]
xref: MESH:C564476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300604 {source="MONDO:equivalentTo"}
xref: UMLS:C1845105 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300604"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C564476
property_value: exactMatch http://identifiers.org/omim/300604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845105

[Term]
id: MONDO:0010374
name: retinitis pigmentosa 34
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28." [DOID:0110417, PMID:16740911]
subset: gard_rare {source="GARD:0010390"}
synonym: "retinitis pigmentosa 34" EXACT [MONDO:Lexical, OMIM:300605]
synonym: "retinitis pigmentosa 34; RP34" RELATED [OMIM:300605]
synonym: "retinitis pigmentosa type 34" EXACT [DOID:0110417, MONDORULE:2]
synonym: "RP 34" RELATED [GARD:0010390]
synonym: "RP34" EXACT [DOID:0110417, MONDO:Lexical, OMIM:300605]
xref: DOID:0110417 {source="MONDO:equivalentTo"}
xref: GARD:0010390 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110417"}
xref: MESH:C564475 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300605 {source="DOID:0110417", source="MONDO:equivalentTo"}
xref: UMLS:C1845104 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300605"}
is_a: MONDO:0019200 {source="DC-OMIM:300605", source="DOID:0110417", source="MESH:C564475", source="OMIM:300605"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110417
property_value: exactMatch http://identifiers.org/mesh/C564475
property_value: exactMatch http://identifiers.org/omim/300605
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845104
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34 xsd:anyURI {source="GARD:0010390"}

[Term]
id: MONDO:0010375
name: hyperekplexia-epilepsy syndrome
subset: ordo_disease {source="Orphanet:163985"}
synonym: "early infantile epileptic encephalopathy 8" RELATED [DOID:0080215]
synonym: "EIEE8" RELATED [MONDO:Lexical, OMIM:300607]
synonym: "epileptic encephalopathy, early infantile, 8" RELATED [MONDO:Lexical, OMIM:300607]
synonym: "epileptic encephalopathy, early infantile, 8; EIEE8" RELATED [OMIM:300607]
synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, OMIM:300607]
synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607]
xref: DOID:0080215 {source="MONDO:equivalentTo"}
xref: ICD10:G25.8 {source="ORDO:163985/attributed", source="ORDO:163985/ntbt", source="Orphanet:163985"}
xref: MESH:C564474 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300607 {source="MONDO:equivalentTo", source="DOID:0080215", source="ORDO:163985/e", source="Orphanet:163985"}
xref: Orphanet:163985 {source="OMIM:300607", source="MONDO:equivalentTo"}
xref: UMLS:C1845102 {source="OMIM:300607", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163985"}
is_a: MONDO:0015920 ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016021 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016160 {source="Orphanet:163985"} ! X-linked intellectual disability-epilepsy syndrome
is_a: MONDO:0021022 ! hereditary hyperekplexia
property_value: exactMatch DOID:0080215
property_value: exactMatch http://identifiers.org/mesh/C564474
property_value: exactMatch http://identifiers.org/omim/300607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845102
property_value: exactMatch Orphanet:163985

[Term]
id: MONDO:0010376
name: Brooks-Wisniewski-brown syndrome
def: "X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures." [Orphanet:3056]
subset: gard_rare {source="GARD:0005610"}
subset: ordo_disease {source="Orphanet:3056"}
synonym: "Brooks Wisniewski Brown syndrome" RELATED [GARD:0005610]
synonym: "Brooks-Wisniewski-brown syndrome" EXACT [OMIM:300612]
synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" RELATED [OMIM:300612]
synonym: "X-linked intellectual disability, Brooks type" EXACT [DOID:0060829]
synonym: "X-linked mental retardation Brooks type" RELATED [GARD:0005610]
xref: DOID:0060829 {source="MONDO:equivalentTo"}
xref: GARD:0005610 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060829", source="Orphanet:3056", source="ORDO:3056/attributed", source="ORDO:3056/ntbt"}
xref: MESH:C563154 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300612 {source="DOID:0060829", source="Orphanet:3056", source="MONDO:equivalentTo", source="ORDO:3056/e"}
xref: Orphanet:3056 {source="DOID:0060829", source="MONDO:equivalentTo", source="OMIM:300612"}
xref: SCTID:725912001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300612"}
is_a: MONDO:0020119 {source="DOID:0060829", source="OMIM:300612", source="Orphanet:3056"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060829
property_value: exactMatch http://identifiers.org/mesh/C563154
property_value: exactMatch http://identifiers.org/omim/300612
property_value: exactMatch http://identifiers.org/snomedct/725912001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796272
property_value: exactMatch Orphanet:3056
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5610/brooks-wisniewski-brown-syndrome xsd:anyURI {source="GARD:0005610"}

[Term]
id: MONDO:0010377
name: MYP13
synonym: "myopia 13, X-linked" RELATED [MONDO:Lexical, OMIM:300613]
synonym: "myopia 13, X-linked; MYP13" RELATED [OMIM:300613]
synonym: "MYP13" EXACT [MONDO:Lexical, OMIM:300613]
xref: MESH:C564473 {source="MONDO:equivalentTo"}
xref: OMIM:300613 {source="MONDO:equivalentTo"}
xref: UMLS:C1845096 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300613"}
is_a: MONDO:0001384 {source="DC-OMIM:300613", source="MESH:C564473", source="OMIM:300613"} ! myopia (disease)
is_a: MONDO:0003847 {source="MESH:C564473/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564473
property_value: exactMatch http://identifiers.org/omim/300613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845096

[Term]
id: MONDO:0010378
name: X-linked hereditary sensory and autonomic neuropathy with deafness
def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." [Orphanet:139583]
subset: gard_rare {source="GARD:0012731"}
subset: ordo_disease {source="Orphanet:139583"}
synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [OMIM:300614]
synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical, OMIM:300614]
synonym: "deafness, X-linked 5; DFNX5" RELATED [OMIM:300614]
synonym: "DFNX5" RELATED [MONDO:Lexical, OMIM:300614]
synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [Orphanet:139583]
synonym: "X-linked HSAN with deafness" EXACT [Orphanet:139583]
xref: GARD:0012731 {source="MONDO:equivalentTo"}
xref: ICD10:G60.8 {source="ORDO:139583/attributed", source="ORDO:139583/ntbt", source="Orphanet:139583"}
xref: MESH:C564472 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300614 {source="MONDO:equivalentTo", source="Orphanet:139583", source="ORDO:139583/e"}
xref: Orphanet:139583 {source="MONDO:equivalentTo", source="OMIM:300614"}
xref: SCTID:719838008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1845095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300614"}
xref: UMLS:C4304400 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015364 {source="MONDOLEX:0010378", source="Orphanet:139583"} ! hereditary sensory and autonomic neuropathy
is_a: MONDO:0019586 {source="DC-OMIM:300614", source="OMIM:300614"} ! X-linked nonsyndromic deafness
is_a: MONDO:0021944 {source="OMIM:300614"} ! auditory neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564472
property_value: exactMatch http://identifiers.org/omim/300614
property_value: exactMatch http://identifiers.org/snomedct/719838008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304400
property_value: exactMatch Orphanet:139583
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness xsd:anyURI {source="GARD:0012731"}

[Term]
id: MONDO:0010379
name: Brunner syndrome
def: "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." [Orphanet:3057]
subset: ordo_disease {source="Orphanet:3057"}
synonym: "antisocial behavior, susceptibility to" RELATED [OMIM:300615]
synonym: "BRNRS" RELATED [OMIM:300615]
synonym: "Brunner syndrome" EXACT [OMIM:300615, Orphanet:3057]
synonym: "Brunner syndrome; BRNRS" RELATED [OMIM:300615]
synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693]
xref: DOID:0060693 {source="MONDO:equivalentTo"}
xref: GARD:0003531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="ORDO:3057/attributed", source="ORDO:3057/ntbt"}
xref: MESH:C563156 {source="DOID:0060693", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="ORDO:3057/e", source="MONDO:equivalentTo"}
xref: Orphanet:3057 {source="DOID:0060693", source="MONDO:equivalentTo", source="OMIM:300615"}
xref: SCTID:718210003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796275 {source="Orphanet:3057", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300615"}
is_a: MONDO:0004736 {source="DOID:0060693"} ! inherited amino acid metabolic disorder
is_a: MONDO:0015920 {source="Orphanet:3057"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019219 {source="Orphanet:3057"} ! inborn disorder of neurotransmitter metabolism and transport
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch DOID:0060693
property_value: exactMatch http://identifiers.org/mesh/C563156
property_value: exactMatch http://identifiers.org/omim/300615
property_value: exactMatch http://identifiers.org/snomedct/718210003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796275
property_value: exactMatch Orphanet:3057

[Term]
id: MONDO:0010380
name: cataract, ataxia, short stature, and mental retardation
synonym: "Casm syndrome" RELATED [OMIM:300619]
synonym: "cataract, ataxia, short stature, and mental retardation" EXACT [OMIM:300619]
synonym: "cataracts, ataxia, short stature, and mental retardation" RELATED [GARD:0010222]
xref: GARD:0010222 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535345 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300619 {source="MONDO:equivalentTo"}
xref: UMLS:C1845094 {source="OMIM:300619", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535345
property_value: exactMatch http://identifiers.org/omim/300619
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845094

[Term]
id: MONDO:0010381
name: Tn polyagglutination syndrome
synonym: "galactosyltransferase deficiency" RELATED [OMIM:300622]
synonym: "Tn polyagglutination syndrome" EXACT [MONDO:Lexical, OMIM:300622]
synonym: "Tn polyagglutination syndrome; TNPS" RELATED [OMIM:300622]
synonym: "TNPS" RELATED [MONDO:Lexical, OMIM:300622]
xref: MESH:C562719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300622 {source="MONDO:equivalentTo"}
xref: UMLS:C0272137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300622"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562719
property_value: exactMatch http://identifiers.org/omim/300622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272137

[Term]
id: MONDO:0010382
name: fragile X-associated tremor/ataxia syndrome
def: "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." [Orphanet:93256]
subset: ordo_malformation_syndrome {source="Orphanet:93256"}
synonym: "fragile 10 tremor/ataxia syndrome" RELATED [OMIM:300623]
synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical, OMIM:300623]
synonym: "fragile X tremor/ataxia syndrome; FXTAS" RELATED [OMIM:300623]
synonym: "FXTAS" RELATED [MONDO:Lexical, OMIM:300623]
synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256]
xref: DOID:0050879 {source="MONDO:equivalentTo"}
xref: ICD10:G11.2 {source="Orphanet:93256", source="ORDO:93256/attributed", source="ORDO:93256/ntbt"}
xref: MESH:C564105 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126566 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.92"}
xref: OMIM:300623 {source="ORDO:93256/e", source="Orphanet:93256", source="MONDO:equivalentTo", source="DOID:0050879"}
xref: Orphanet:93256 {source="MONDO:equivalentTo", source="OMIM:300623"}
xref: SCTID:448045004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C1839780 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:93256", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126566", source="OMIM:300623"}
is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia
property_value: exactMatch DOID:0050879
property_value: exactMatch http://identifiers.org/mesh/C564105
property_value: exactMatch http://identifiers.org/omim/300623
property_value: exactMatch http://identifiers.org/snomedct/448045004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164069
property_value: exactMatch NCIT:C126566
property_value: exactMatch Orphanet:93256

[Term]
id: MONDO:0010383
name: fragile X syndrome
def: "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." [NCIT:P378]
subset: ordo_malformation_syndrome {source="Orphanet:908"}
synonym: "fra(X) syndrome" RELATED [GARD:0006464]
synonym: "fragile 10 mental retardation syndrome" RELATED [OMIM:300624]
synonym: "fragile 10 premature ovarian failure" RELATED [OMIM:300624]
synonym: "fragile 10 syndrome" RELATED [OMIM:300624]
synonym: "fragile X mental retardation syndrome" EXACT [DOID:14261, OMIM:300624]
synonym: "fragile X syndrome; FXS" RELATED [OMIM:300624]
synonym: "FraX syndrome" EXACT [Orphanet:908]
synonym: "FRAXA syndrome" EXACT [Orphanet:908]
synonym: "FXS" EXACT [Orphanet:908]
synonym: "marker 10 syndrome" RELATED [OMIM:300624]
synonym: "marker X syndrome" EXACT [DOID:14261]
synonym: "Martin-Bell syndrome" EXACT [DOID:14261, OMIM:300624, Orphanet:908]
synonym: "mental retardation, X-linked, associated with Marxq28" RELATED [OMIM:300624]
synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [OMIM:300624]
synonym: "X-linked mental retardation and macroorchidism" RELATED [OMIM:300624]
xref: COHD:436803 {source="MONDO:equivalentTo"}
xref: DOID:14261 {source="MONDO:equivalentTo"}
xref: GARD:0006464 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q99.2 {source="DOID:14261", source="ORDO:908/specific", source="ORDO:908/e", source="Orphanet:908"}
xref: ICD9:759.83 {source="DOID:14261", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10017324 {source="ORDO:908/e", source="Orphanet:908"}
xref: MESH:D005600 {source="DOID:14261", source="MONDO:equivalentTo", source="ORDO:908/e", source="Orphanet:908"}
xref: NCIT:C84717 {source="DOID:14261", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:300624 {source="ORDO:908/ntbt", source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908"}
xref: Orphanet:908 {source="MONDO:equivalentTo", source="OMIM:300624"}
xref: SCTID:613003 {source="DOID:14261", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0016667 {source="DOID:14261", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84717", source="ORDO:908/e", source="Orphanet:908", source="OMIM:300624"}
is_a: MONDO:0015159 {source="Orphanet:908"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:908"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016565 {source="Orphanet:908"} ! syndromic genetic obesity
is_a: MONDO:0017656 {source="Orphanet:908", source="indirect"} ! motor stereotypies
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="DC-OMIM:300624", source="Orphanet:908"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020253 {source="Orphanet:908"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/390007001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749127
property_value: exactMatch DOID:14261
property_value: exactMatch http://identifiers.org/meddra/10017324
property_value: exactMatch http://identifiers.org/mesh/D005600
property_value: exactMatch http://identifiers.org/omim/300624
property_value: exactMatch http://identifiers.org/snomedct/613003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751156
property_value: exactMatch NCIT:C84717
property_value: exactMatch Orphanet:908

[Term]
id: MONDO:0010384
name: hypospadias 1, X-linked
synonym: "hypospadias 1, X-linked" EXACT [MONDO:Lexical, OMIM:300633]
synonym: "hypospadias 1, X-linked; HYSP1" RELATED [OMIM:300633]
synonym: "HYSP1" RELATED [MONDO:Lexical, OMIM:300633]
xref: MESH:C567482 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300633 {source="MONDO:equivalentTo"}
xref: UMLS:C2678098 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300633"}
is_a: MONDO:0005345 {source="DC-OMIM:300633", source="MESH:C567482", source="OMIM:300633"} ! hypospadias (disease)
property_value: exactMatch http://identifiers.org/mesh/C567482
property_value: exactMatch http://identifiers.org/omim/300633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678098

[Term]
id: MONDO:0010385
name: X-linked lymphoproliferative disease due to XIAP deficiency
def: "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2." [NCIT:C126295]
subset: gard_rare {source="GARD:0010916"}
subset: ordo_disease
synonym: "lymphoproliferative syndrome, X-linked, 2" RELATED [GARD:0010916, MONDO:Lexical, OMIM:300635]
synonym: "lymphoproliferative syndrome, X-linked, 2; XLP2" RELATED [OMIM:300635]
synonym: "lymphoproliferative syndrome, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300635]
synonym: "X-linked lymphoproliferative syndrome type 2" EXACT [DOID:0060706, MONDORULE:1]
synonym: "XIAP deficiency" EXACT [DOID:0060706]
synonym: "Xiap deficiency" RELATED [OMIM:300635]
synonym: "XIAP deficiency/XLPs" EXACT [NCIT:C126295]
synonym: "XIAP-related lymphoproliferative disease, X-linked" RELATED [GARD:0010916]
synonym: "XLP2" EXACT [DOID:0060706, MONDO:Lexical, OMIM:300635]
xref: DOID:0060706 {source="MONDO:equivalentTo"}
xref: GARD:0010916 {source="MONDO:equivalentTo"}
xref: ICD10:D82.3 {source="DOID:0060706"}
xref: MESH:C564469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126295 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:300635 {source="Orphanet:538934", source="MONDO:equivalentTo", source="DOID:0060706"}
xref: Orphanet:538934 {source="MONDO:equivalentTo"}
xref: UMLS:C1845076 {source="NCIT:C126295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300635"}
is_a: MONDO:0010627 {source="MESH:C564469", source="MONDO:Redundant", source="MONDOLEX:0010385", source="ORDO:2442/btnt", source="Orphanet:538934"} ! X-linked lymphoproliferative syndrome
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch DOID:0060706
property_value: exactMatch http://identifiers.org/mesh/C564469
property_value: exactMatch http://identifiers.org/omim/300635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845076
property_value: exactMatch NCIT:C126295
property_value: exactMatch Orphanet:538934
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 xsd:anyURI {source="GARD:0010916"}

[Term]
id: MONDO:0010386
name: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
def: "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:319612"}
subset: predisposition
synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [OMIM:300636]
synonym: "familial X-linked 1 atypical mycobacteriosis" RELATED [GARD:0012915]
synonym: "IKBKG X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IMD33" RELATED [MONDO:Lexical, OMIM:300636]
synonym: "immunodeficiency 33" RELATED [MONDO:Lexical, OMIM:300636]
synonym: "immunodeficiency 33, Mycobacteriosis, X-linked" RELATED [OMIM:300636]
synonym: "immunodeficiency 33; IMD33" RELATED [OMIM:300636]
synonym: "immunodeficiency type 33" EXACT [MONDORULE:2, OMIM:300636]
synonym: "NEMO deficiency syndrome" RELATED [GARD:0012915]
synonym: "NF-kappa B essential modulator deficiency" RELATED [GARD:0012915]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG" EXACT []
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [Orphanet:319612]
synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [Orphanet:319612]
synonym: "X-linked MSMD due to NEMO deficiency" EXACT [Orphanet:319612]
xref: GARD:0012915 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D84.8 {source="ORDO:319612/attributed", source="ORDO:319612/ntbt", source="Orphanet:319612"}
xref: MESH:C567070 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300636 {source="MONDO:equivalentTo", source="ORDO:319612/e", source="Orphanet:319612"}
xref: Orphanet:319612 {source="MONDO:equivalentTo", source="OMIM:300636"}
xref: UMLS:C1970879 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300636"}
is_a: MONDO:0017905 {source="MONDOLEX:0010386", source="Orphanet:319612"} ! X-linked mendelian susceptibility to mycobacterial diseases
property_value: exactMatch http://identifiers.org/mesh/C567070
property_value: exactMatch http://identifiers.org/omim/300636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970879
property_value: exactMatch Orphanet:319612

[Term]
id: MONDO:0010387
name: invasive pneumococcal disease, recurrent isolated, 2
def: "Any invasive pneumococcal disease, recurrent isolated in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IKBKG invasive pneumococcal disease, recurrent isolated" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG" EXACT [MONDO:design_pattern]
synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical, OMIM:300640]
synonym: "invasive pneumococcal disease, recurrent isolated, 2; IPD2" RELATED [OMIM:300640]
synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1, OMIM:300640]
synonym: "IPD2" RELATED [MONDO:Lexical, OMIM:300640]
xref: MESH:C564468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300640 {source="MONDO:equivalentTo"}
xref: UMLS:C1845073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300640"}
is_a: MONDO:0000049 {source="DC-OMIM:300640", source="MONDO:Redundant", source="OMIM:300640"} ! invasive pneumococcal disease, recurrent isolated
property_value: exactMatch http://identifiers.org/mesh/C564468
property_value: exactMatch http://identifiers.org/omim/300640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845073

[Term]
id: MONDO:0010388
name: rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked
synonym: "RESDX" RELATED [MONDO:Lexical, OMIM:300643]
synonym: "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" EXACT [MONDO:Lexical, OMIM:300643]
synonym: "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked; RESDX" RELATED [OMIM:300643]
xref: MESH:C564467 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300643 {source="MONDO:equivalentTo"}
xref: UMLS:C1845070 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300643"}
is_a: MONDO:0015587 {source="ORDO:163721/btnt"} ! rolandic epilepsy-speech dyspraxia syndrome
property_value: exactMatch http://identifiers.org/mesh/C564467
property_value: exactMatch http://identifiers.org/omim/300643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845070

[Term]
id: MONDO:0010389
name: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
def: "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:319623"}
subset: predisposition
synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [OMIM:300645]
synonym: "CYBB X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IMD34" RELATED [MONDO:Lexical, OMIM:300645]
synonym: "immunodeficiency 34" RELATED [MONDO:Lexical, OMIM:300645]
synonym: "immunodeficiency 34, Mycobacteriosis, X-linked" RELATED [OMIM:300645]
synonym: "immunodeficiency 34; IMD34" RELATED [OMIM:300645]
synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT []
synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623]
xref: ICD10:D84.8 {source="ORDO:319623/attributed", source="ORDO:319623/ntbt", source="Orphanet:319623"}
xref: MESH:C567068 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300645 {source="MONDO:equivalentTo", source="ORDO:319623/e", source="Orphanet:319623"}
xref: Orphanet:319623 {source="MONDO:equivalentTo", source="OMIM:300645"}
xref: UMLS:C1970859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300645"}
is_a: MONDO:0017905 {source="MONDOLEX:0010389", source="Orphanet:319623"} ! X-linked mendelian susceptibility to mycobacterial diseases
property_value: exactMatch http://identifiers.org/mesh/C567068
property_value: exactMatch http://identifiers.org/omim/300645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970859
property_value: exactMatch Orphanet:319623

[Term]
id: MONDO:0010390
name: ocular albinism with late-onset sensorineural deafness
def: "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." [Orphanet:1000]
subset: ordo_disease {source="Orphanet:1000"}
synonym: "albinism ocular late onset sensorineural deafness" RELATED [GARD:0000592]
synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical, OMIM:300650]
synonym: "albinism, ocular, with late-onset sensorineural deafness; OASD" RELATED [OMIM:300650]
synonym: "deafness and ocular albinism" RELATED [OMIM:300650]
synonym: "OASD" RELATED [MONDO:Lexical, OMIM:300650]
synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650]
xref: GARD:0000592 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:1000", source="ORDO:1000/attributed", source="ORDO:1000/ntbt"}
xref: OMIM:300650 {source="Orphanet:1000", source="ORDO:1000/e", source="MONDO:equivalentTo"}
xref: Orphanet:1000 {source="OMIM:300650", source="MONDO:equivalentTo"}
xref: SCTID:722054007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1845069 {source="Orphanet:1000", source="ORDO:1000/e", source="OMIM:300650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017304 {source="Orphanet:1000", source="linkedlifedata"} ! ocular albinism (disease)
is_a: MONDO:0019589 {source="Orphanet:1000"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C537043
property_value: exactMatch http://identifiers.org/omim/300650
property_value: exactMatch http://identifiers.org/snomedct/722054007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845069
property_value: exactMatch Orphanet:1000

[Term]
id: MONDO:0010391
name: angioma serpiginosum, X-linked
synonym: "angioma serpiginosum, X-linked" EXACT [OMIM:300652]
xref: GARD:0010188 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:300652 {source="MONDO:equivalentTo"}
is_a: MONDO:0019803 {source="DC-OMIM:300652"} ! angioma serpiginosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263637
property_value: exactMatch http://identifiers.org/omim/300652

[Term]
id: MONDO:0010392
name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency
def: "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." [Orphanet:713]
subset: ordo_disease {source="Orphanet:713"}
synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern]
synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713]
synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713]
synonym: "PGK deficiency" RELATED [GARD:0007389]
synonym: "Pgk1 deficiency" RELATED [OMIM:300653]
synonym: "PGK1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653]
synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389]
xref: GARD:0007389 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:713", source="ORDO:713/attributed", source="ORDO:713/ntbt"}
xref: MESH:C567067 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126738 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/7.15"}
xref: OMIM:300653 {source="ORDO:713/e", source="Orphanet:713", source="MONDO:equivalentTo"}
xref: Orphanet:713 {source="MONDO:equivalentTo", source="OMIM:300653"}
xref: UMLS:C1970848 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:713", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300653", source="NCIT:C126738"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:713"} ! glycogen storage disease
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0015920 {source="Orphanet:713"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016118 {source="Orphanet:713"} ! muscular glycogenosis
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0020106 {source="Orphanet:713"} ! hemolytic anemia due to a disorder of glycolytic enzymes
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C567067
property_value: exactMatch http://identifiers.org/omim/300653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970848
property_value: exactMatch NCIT:C126738
property_value: exactMatch Orphanet:713

[Term]
id: MONDO:0010393
name: intellectual disability, X-linked 93
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRWD3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 93" RELATED [MONDO:Lexical, OMIM:300659]
synonym: "mental retardation, X-linked 93; MRX93" RELATED [OMIM:300659]
synonym: "mental retardation, X-linked type 93" EXACT [MONDORULE:2, OMIM:300659]
synonym: "mental retardation, X-linked, with macrocephaly" RELATED [OMIM:300659]
synonym: "MRX93" RELATED [MONDO:Lexical, OMIM:300659]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" EXACT [MONDO:design_pattern]
xref: MESH:C567066 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300659 {source="MONDO:equivalentTo"}
xref: UMLS:C1970841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300659"}
is_a: MONDO:0019181 {source="DC-OMIM:300659", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567066
property_value: exactMatch http://identifiers.org/omim/300659
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970841

[Term]
id: MONDO:0010394
name: obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
is_obsolete: true
replaced_by: MONDO:0010275

[Term]
id: MONDO:0010395
name: phosphoribosylpyrophosphate synthetase superactivity
def: "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms)." [Orphanet:3222]
subset: ordo_disease {source="Orphanet:3222"}
synonym: "gout, PRPS-related" RELATED [OMIM:300661]
synonym: "phosphoribosylpyrophosphate synthetase superactivity" EXACT [OMIM:300661]
synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222]
synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222]
xref: ICD10:E79.8 {source="Orphanet:3222", source="ORDO:3222/attributed", source="ORDO:3222/ntbt"}
xref: MESH:C567064 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300661 {source="Orphanet:3222", source="ORDO:3222/e", source="MONDO:equivalentTo"}
xref: Orphanet:3222 {source="OMIM:300661", source="MONDO:equivalentTo"}
xref: SCTID:723454008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970827 {source="Orphanet:3222", source="MEDGEN:kboom-pr98-c99", source="OMIM:300661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015920 {source="Orphanet:3222"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019236 {source="Orphanet:3222"} ! inborn disorder of purine metabolism
is_a: MONDO:0019743 {source="Orphanet:3222"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C567064
property_value: exactMatch http://identifiers.org/omim/300661
property_value: exactMatch http://identifiers.org/snomedct/723454008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970827
property_value: exactMatch Orphanet:3222

[Term]
id: MONDO:0010396
name: epileptic encephalopathy, early infantile, 2
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease
synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in CDKL5" EXACT [MONDO:design_pattern]
synonym: "EIEE2" RELATED [MONDO:Lexical, OMIM:300672]
synonym: "epileptic encephalopathy, early infantile, 2" EXACT [MONDO:Lexical, OMIM:300672]
synonym: "epileptic encephalopathy, early infantile, 2; EIEE2" RELATED [OMIM:300672]
synonym: "epileptic encephalopathy, early infantile, type 2" EXACT [MONDORULE:1, OMIM:300672]
synonym: "infantile spasm syndrome, X-linked 2" RELATED [OMIM:300672]
xref: ICD10:G40.4 {source="Orphanet:505652"}
xref: MESH:C564064 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300672 {source="MONDO:equivalentTo", source="Orphanet:505652"}
xref: Orphanet:505652 {source="MONDO:equivalentTo"}
xref: UMLS:C1839333 {source="OMIM:300672", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017746 {source="ORDO:3095/btnt"} ! atypical Rett syndrome
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
is_a: MONDO:0100039 ! CDKL5 disorder
property_value: exactMatch http://identifiers.org/mesh/C564064
property_value: exactMatch http://identifiers.org/omim/300672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839333
property_value: exactMatch Orphanet:505652

[Term]
id: MONDO:0010397
name: severe neonatal-onset encephalopathy with microcephaly
def: "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." [NCIT:C132293]
subset: ordo_disease {source="Orphanet:209370"}
synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM:300673]
synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370]
synonym: "severe Neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293]
xref: ICD10:Q02 {source="Orphanet:209370", source="ORDO:209370/attributed", source="ORDO:209370/ntbt"}
xref: MESH:C566878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132293 {source="MONDO:equivalentTo"}
xref: OMIM:300673 {source="Orphanet:209370", source="ORDO:209370/e", source="MONDO:equivalentTo"}
xref: Orphanet:209370 {source="MONDO:equivalentTo", source="OMIM:300673"}
xref: UMLS:C1968556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300673"}
is_a: MONDO:0015653 {source="Orphanet:209370"} ! monogenic epilepsy
is_a: MONDO:0020070 {source="Orphanet:209370"} ! neonatal epilepsy syndrome
property_value: exactMatch http://identifiers.org/mesh/C566878
property_value: exactMatch http://identifiers.org/omim/300673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968556
property_value: exactMatch NCIT:C132293
property_value: exactMatch Orphanet:209370

[Term]
id: MONDO:0010398
name: syndromic X-linked intellectual disability 14
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked, syndromic 14" EXACT [DOID:0060821, MONDO:Lexical, OMIM:300676]
synonym: "mental retardation, X-linked, syndromic 14; MRXS14" RELATED [OMIM:300676]
synonym: "mental retardation, X-linked, syndromic type 14" EXACT [MONDORULE:2, OMIM:300676]
synonym: "MRXS14" RELATED [MONDO:Lexical, OMIM:300676]
synonym: "syndromic X-linked intellectual disability type 14" EXACT [DOID:0060821, MONDORULE:2]
synonym: "UPF3B X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in UPF3B" EXACT [MONDO:design_pattern]
xref: DOID:0060821 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060821"}
xref: MESH:C567063 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300676 {source="MONDO:equivalentTo", source="DOID:0060821"}
xref: UMLS:C1970822 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300676"}
is_a: MONDO:0020119 {source="DOID:0060821", source="MONDO:Redundant", source="OMIM:300676", source="indirect"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://identifiers.org/mesh/C537923
property_value: exactMatch DOID:0060821
property_value: exactMatch http://identifiers.org/mesh/C567063
property_value: exactMatch http://identifiers.org/omim/300676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970822

[Term]
id: MONDO:0010399
name: chromosome Xp21 deletion syndrome
subset: ordo_disease {source="Orphanet:261476"}
synonym: "chromosome Xp21 deletion syndrome" EXACT [OMIM:300679]
synonym: "Complex Glycerol kinase deficiency" RELATED [OMIM:300679]
synonym: "complex glycerol kinase deficiency" EXACT [DOID:0060427]
synonym: "Del(X)(p21)" EXACT [Orphanet:261476]
synonym: "Glycerol kinase deficiency-contiguous gene syndrome" EXACT [Orphanet:261476]
synonym: "monosomy Xp21" EXACT [DOID:0060427]
synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476]
synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476]
xref: DOID:0060427 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="ORDO:261476/attributed", source="ORDO:261476/ntbt", source="Orphanet:261476", source="DOID:0060427"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:300679 {source="MONDO:equivalentTo", source="ORDO:261476/e", source="Orphanet:261476", source="DOID:0060427"}
xref: Orphanet:261476 {source="MONDO:equivalentTo", source="DOID:0060427", source="OMIM:300679"}
xref: SCTID:297257004 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0795887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300679"}
is_a: MONDO:0000761 {source="DC-OMIM:300679", source="DOID:0060427"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0010613 {source="Orphanet:261476"} ! inborn glycerol kinase deficiency
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017004 {source="Orphanet:261476"} ! partial monosomy of the short arm of chromosome X
property_value: exactMatch DOID:0060427
property_value: exactMatch http://identifiers.org/omim/300679
property_value: exactMatch http://identifiers.org/snomedct/297257004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795887
property_value: exactMatch Orphanet:261476

[Term]
id: MONDO:0010400
name: X-linked scapuloperoneal muscular dystrophy
def: "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." [Orphanet:431272]
subset: ordo_disease {source="Orphanet:431272"}
synonym: "scapuloperoneal myopathy, FHL1-related" RELATED [OMIM:300695]
synonym: "scapuloperoneal myopathy, X-linked dominant" RELATED [MONDO:Lexical, OMIM:300695]
synonym: "scapuloperoneal myopathy, X-linked dominant; SPM" RELATED [OMIM:300695]
synonym: "SPM" RELATED [MONDO:Lexical, OMIM:300695]
synonym: "X-linked scapuloperoneal syndrome" EXACT [Orphanet:431272]
synonym: "X-linked SPMD" EXACT [Orphanet:431272]
xref: GARD:0007608 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:431272", source="ORDO:431272/attributed", source="ORDO:431272/ntbt"}
xref: OMIM:300695 {source="MONDO:equivalentTo", source="Orphanet:431272", source="ORDO:431272/e"}
xref: Orphanet:431272 {source="MONDO:equivalentTo"}
xref: UMLS:C2678061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300695"}
is_a: MONDO:0000727 {source="DC-OMIM:300695"} ! scapuloperoneal myopathy
is_a: MONDO:0018549 {source="Orphanet:431272"} ! late-onset scapuloperoneal muscular dystrophy with hyaline bodies
property_value: exactMatch http://identifiers.org/omim/300695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678061
property_value: exactMatch Orphanet:431272

[Term]
id: MONDO:0010401
name: X-linked myopathy with postural muscle atrophy
def: "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." [Orphanet:178461]
subset: ordo_disease {source="Orphanet:178461"}
synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [OMIM:300696]
synonym: "myopathy, X-linked, with postural muscle atrophy" RELATED [MONDO:Lexical, OMIM:300696]
synonym: "myopathy, X-linked, with postural muscle atrophy; XMPMA" RELATED [OMIM:300696]
synonym: "XMPMA" EXACT [MONDO:Lexical, OMIM:300696, Orphanet:178461]
xref: DOID:0070251 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:178461/attributed", source="ORDO:178461/ntbt", source="Orphanet:178461"}
xref: OMIM:300696 {source="MONDO:equivalentTo", source="Orphanet:178461", source="ORDO:178461/e"}
xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"}
xref: UMLS:C2678055 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300696", source="Orphanet:178461"}
is_a: MONDO:0016830 {source="DC-OMIM:300696", source="OMIM:300696"} ! Emery-Dreifuss muscular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749106
property_value: exactMatch DOID:0070251
property_value: exactMatch http://identifiers.org/omim/300696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678055
property_value: exactMatch Orphanet:178461

[Term]
id: MONDO:0010402
name: syndromic X-linked intellectual disability 94
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25." [DOID:0060823, PMID:17989220, PMID:19449417, PMID:24721225]
synonym: "mental retardation, X-linked 94" EXACT [DOID:0060823, OMIM:300699]
synonym: "mental retardation, X-linked, syndromic 29" RELATED [OMIM:300699]
synonym: "mental retardation, X-linked, syndromic, Wu type" RELATED [MONDO:Lexical, OMIM:300699]
synonym: "mental retardation, X-linked, syndromic, Wu type; MRXSW" RELATED [OMIM:300699]
synonym: "MRX94" EXACT [DOID:0060823]
synonym: "MRXS29" EXACT [DOID:0060823]
synonym: "MRXSW" RELATED [MONDO:Lexical, OMIM:300699]
synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [DOID:0060823]
synonym: "syndromic X-linked intellectual disability type 94" EXACT [DOID:0060823, MONDORULE:2]
synonym: "syndromic X-linked mental retardation 29" EXACT [DOID:0060823]
synonym: "syndromic X-linked mental retardation Wu type" EXACT [DOID:0060823]
xref: DOID:0060823 {source="MONDO:equivalentTo"}
xref: ICD10:F72 {source="DOID:0060823"}
xref: MESH:C567479 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300699 {source="MONDO:equivalentTo", source="DOID:0060823"}
xref: UMLS:C2678051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300699"}
is_a: MONDO:0018222 ! X-linked intellectual disability due to GRIA3 anomalies
property_value: exactMatch DOID:0060823
property_value: exactMatch http://identifiers.org/mesh/C567479
property_value: exactMatch http://identifiers.org/omim/300699
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678051

[Term]
id: MONDO:0010403
name: albinism-deafness syndrome
def: "Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." [Orphanet:998]
comment: Editor note: check whether precisely identicial to Woolf syndrome
subset: gard_rare {source="GARD:0000589"}
subset: ordo_malformation_syndrome {source="Orphanet:998"}
synonym: "ADFN" RELATED [MONDO:Lexical, OMIM:300700]
synonym: "albinism deafness syndrome" RELATED [GARD:0000589]
synonym: "albinism-deafness syndrome" EXACT [MONDO:Lexical, OMIM:300700]
synonym: "albinism-deafness syndrome; ADFN" RELATED [OMIM:300700]
synonym: "Alds" RELATED [OMIM:300700]
synonym: "Woolf syndrome" RELATED [https://en.wikipedia.org/wiki/Albinism-deafness_syndrome]
synonym: "Woolf's syndrome" EXACT [https://en.wikipedia.org/wiki/Albinism-deafness_syndrome]
synonym: "Ziprkowski–Margolis syndrome" EXACT [https://en.wikipedia.org/wiki/Albinism-deafness_syndrome]
xref: GARD:0000589 {source="MONDO:equivalentTo"}
xref: ICD10:H90.5 {source="Orphanet:998", source="ORDO:998/attributed", source="ORDO:998/ntbt"}
xref: MESH:C537042 {source="ORDO:998/e", source="Orphanet:998", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300700 {source="ORDO:998/e", source="Orphanet:998", source="MONDO:equivalentTo"}
xref: Orphanet:998 {source="MONDO:equivalentTo", source="OMIM:300700"}
xref: SCTID:722285005 {source="MONDO:equivalentTo"}
xref: SCTID:74320008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019290 {source="MESH:C537042/inferred", source="Orphanet:998"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0019589 {source="Orphanet:998"} ! syndromic genetic deafness
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043209 {source="MESH:C537042", source="MONDO:cjm", source="linkedlifedata"} ! albinism
property_value: exactMatch http://identifiers.org/mesh/C537042
property_value: exactMatch http://identifiers.org/omim/300700
property_value: exactMatch http://identifiers.org/snomedct/722285005
property_value: exactMatch http://identifiers.org/snomedct/74320008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845068
property_value: exactMatch Orphanet:998
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome xsd:anyURI {source="GARD:0000589"}

[Term]
id: MONDO:0010404
name: X-linked non progressive cerebellar ataxia
def: "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." [Orphanet:314978]
subset: ordo_disease {source="Orphanet:314978"}
synonym: "SCAX5" EXACT [MONDO:Lexical, OMIM:300703, Orphanet:314978]
synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703]
synonym: "spinocerebellar ataxia, X-linked 5; SCAX5" RELATED [OMIM:300703]
synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978]
xref: ICD10:G11.0 {source="ORDO:314978/attributed", source="ORDO:314978/ntbt", source="Orphanet:314978"}
xref: MESH:C567478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300703 {source="ORDO:314978/e", source="MONDO:equivalentTo", source="Orphanet:314978"}
xref: Orphanet:314978 {source="MONDO:equivalentTo", source="OMIM:300703"}
xref: SCTID:766818009 {source="MONDO:equivalentTo"}
xref: UMLS:C2678048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300703"}
is_a: MONDO:0016612 {source="MONDOLEX:0010404", source="Orphanet:314978"} ! X-linked cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C567478
property_value: exactMatch http://identifiers.org/omim/300703
property_value: exactMatch http://identifiers.org/snomedct/766818009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678048
property_value: exactMatch Orphanet:314978

[Term]
id: MONDO:0010405
name: HPCX2
synonym: "HPCX2" EXACT [MONDO:Lexical, OMIM:300704]
synonym: "prostate cancer, hereditary, X-linked 2" RELATED [MONDO:Lexical, OMIM:300704]
synonym: "prostate cancer, hereditary, X-linked 2; HPCX2" RELATED [OMIM:300704]
xref: MESH:C567477 {source="MONDO:equivalentTo"}
xref: OMIM:300704 {source="MONDO:equivalentTo"}
xref: UMLS:C2678047 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300704"}
is_a: MONDO:0023122 {source="MONDOLEX:0010405"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567477
property_value: exactMatch http://identifiers.org/omim/300704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678047

[Term]
id: MONDO:0010406
name: chromosome Xp11.22 duplication syndrome
synonym: "chromosome Xp11.22 duplication syndrome" EXACT [OMIM:300705]
synonym: "mental retardation, X-linked 17" RELATED [OMIM:300705]
synonym: "mental retardation, X-linked 31" RELATED [OMIM:300705]
xref: OMIM:300705 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300705", source="OMIM:300705"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796223
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796238
property_value: exactMatch http://identifiers.org/omim/300705

[Term]
id: MONDO:0010407
name: syndromic X-linked intellectual disability Turner type
def: "X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." [Orphanet:85328]
subset: ordo_malformation_syndrome {source="Orphanet:85328"}
synonym: "Brooks-Wisniewski-Brown Syndrome" RELATED [OMIM:309590]
synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590]
synonym: "mental retardation and macrocephaly syndrome" EXACT [DOID:0060811, OMIM:300706]
synonym: "mental retardation and macrocephaly syndrome" RELATED [OMIM:309590]
synonym: "mental retardation, X-linked syndromic, Turner type" EXACT [DOID:0060811]
synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED [OMIM:309590]
synonym: "mental retardation, X-linked, syndromic, Turner type" RELATED [MONDO:Lexical, OMIM:300706]
synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:300706, OMIM:309590]
synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309590]
synonym: "MRXST" EXACT [DOID:0060811, MONDO:Lexical, OMIM:300706]
synonym: "X-linked intellectual disability, Turner type" RELATED [Orphanet:85328]
xref: DOID:0060811 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:85328/attributed", source="ORDO:85328/ntbt", source="DOID:0060811", source="Orphanet:85328"}
xref: MESH:C567476 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="ORDO:85328/e", source="DOID:0060811", source="Orphanet:85328"}
xref: OMIM:309590 {source="MONDO:equivalentTo"}
xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentTo", source="OMIM:309590", source="DOID:0060811"}
xref: UMLS:C2678046 {source="OMIM:300706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309590", source="Orphanet:85328"}
is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="OMIM:300706", source="OMIM:309590", source="Orphanet:85328"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060811
property_value: exactMatch http://identifiers.org/mesh/C567476
property_value: exactMatch http://identifiers.org/omim/300706
property_value: exactMatch http://identifiers.org/omim/309590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678046
property_value: exactMatch Orphanet:85328

[Term]
id: MONDO:0010408
name: syndactyly-telecanthus-anogenital and renal malformations syndrome
def: "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." [Orphanet:140952]
subset: ordo_malformation_syndrome {source="Orphanet:140952"}
synonym: "STAR" RELATED [MONDO:Lexical, OMIM:300707]
synonym: "STAR syndrome" EXACT [Orphanet:140952]
synonym: "Star syndrome" RELATED [OMIM:300707]
synonym: "syndactyly with renal and anogenital malformations" RELATED [OMIM:300707]
synonym: "syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295]
synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707]
synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations; STAR" RELATED [OMIM:300707]
synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295]
xref: GARD:0010295 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:140952/attributed", source="ORDO:140952/ntbt", source="Orphanet:140952"}
xref: MESH:C567475 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300707 {source="MONDO:equivalentTo", source="Orphanet:140952", source="ORDO:140952/e"}
xref: Orphanet:140952 {source="OMIM:300707", source="MONDO:equivalentTo"}
xref: SCTID:723581006 {source="MONDO:equivalentTo"}
xref: UMLS:C2678045 {source="OMIM:300707", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:140952"}
is_a: MONDO:0015246 {source="Orphanet:140952"} ! syndromic anorectal malformation
is_a: MONDO:0017434 {source="Orphanet:140952"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:140952"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567475
property_value: exactMatch http://identifiers.org/omim/300707
property_value: exactMatch http://identifiers.org/snomedct/723581006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678045
property_value: exactMatch Orphanet:140952

[Term]
id: MONDO:0010409
name: syndromic X-linked intellectual disability Shrimpton type
def: "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome." [Orphanet:85324]
subset: ordo_malformation_syndrome {source="Orphanet:85324"}
synonym: "mental retardation, X-linked, syndromic 9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709]
synonym: "mental retardation, X-linked, syndromic 9; MRXS9" RELATED [OMIM:300709]
synonym: "MRXS9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324]
synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324]
xref: DOID:0060813 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85324", source="DOID:0060813", source="ORDO:85324/attributed", source="ORDO:85324/ntbt"}
xref: MESH:C567474 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300709 {source="ORDO:85324/e", source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813"}
xref: Orphanet:85324 {source="OMIM:300709", source="MONDO:equivalentTo", source="DOID:0060813"}
xref: UMLS:C2678039 {source="NCBI:mim2gene_medline", source="OMIM:300709", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:300709", source="DOID:0060813", source="OMIM:300709", source="Orphanet:85324"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060813
property_value: exactMatch http://identifiers.org/mesh/C567474
property_value: exactMatch http://identifiers.org/omim/300709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678039
property_value: exactMatch Orphanet:85324

[Term]
id: MONDO:0010410
name: AGA2
synonym: "AGA2" EXACT [MONDO:Lexical, OMIM:300710]
synonym: "alopecia, androgenetic, 2" RELATED [MONDO:Lexical, OMIM:300710]
synonym: "alopecia, androgenetic, 2; AGA2" RELATED [OMIM:300710]
xref: MESH:C567473 {source="MONDO:equivalentTo"}
xref: OMIM:300710 {source="MONDO:equivalentTo"}
xref: UMLS:C2678038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300710"}
is_a: MONDO:0000005 {source="DC-OMIM:300710", source="OMIM:300710"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia
property_value: exactMatch http://identifiers.org/mesh/C567473
property_value: exactMatch http://identifiers.org/omim/300710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678038

[Term]
id: MONDO:0010411
name: IHPS4
synonym: "IHPS4" EXACT [MONDO:Lexical, OMIM:300711]
synonym: "pyloric stenosis, infantile hypertrophic, 4" RELATED [MONDO:Lexical, OMIM:300711]
synonym: "pyloric stenosis, infantile hypertrophic, 4; IHPS4" RELATED [OMIM:300711]
xref: MESH:C567472 {source="MONDO:equivalentTo"}
xref: OMIM:300711 {source="MONDO:equivalentTo"}
xref: UMLS:C2678037 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300711"}
is_a: MONDO:0001560 {source="DC-OMIM:300711", source="MESH:C567472", source="MONDOLEX:0010411", source="OMIM:300711"} ! hypertrophic pyloric stenosis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567472
property_value: exactMatch http://identifiers.org/omim/300711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678037

[Term]
id: MONDO:0010412
name: X-linked intellectual disability-craniofacioskeletal syndrome
def: "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." [Orphanet:163979]
subset: ordo_disease {source="Orphanet:163979"}
synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712]
xref: ICD10:Q87.8 {source="ORDO:163979/attributed", source="ORDO:163979/ntbt", source="Orphanet:163979"}
xref: MESH:C567471 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300712 {source="MONDO:equivalentTo", source="Orphanet:163979", source="ORDO:163979/e"}
xref: Orphanet:163979 {source="MONDO:equivalentTo", source="OMIM:300712"}
xref: UMLS:C2678036 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300712"}
is_a: MONDO:0020119 {source="Orphanet:163979"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567471
property_value: exactMatch http://identifiers.org/omim/300712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678036
property_value: exactMatch Orphanet:163979

[Term]
id: MONDO:0010413
name: MRX95
synonym: "mental retardation, X-linked 95" RELATED [MONDO:Lexical, OMIM:300716]
synonym: "mental retardation, X-linked 95; MRX95" RELATED [OMIM:300716]
synonym: "MRX95" EXACT [MONDO:Lexical, OMIM:300716]
xref: MESH:C567470 {source="MONDO:equivalentTo"}
xref: OMIM:300716 {source="MONDO:equivalentTo"}
xref: UMLS:C2678034 {source="OMIM:300716", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300716", source="OMIM:300716"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567470
property_value: exactMatch http://identifiers.org/omim/300716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678034

[Term]
id: MONDO:0010414
name: myopathy, reducing body, X-linked, early-onset, severe
synonym: "myopathy, reducing body, X-linked, early-onset, severe" EXACT [OMIM:300717]
synonym: "RBMX1A" RELATED [OMIM:300717]
synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" RELATED [OMIM:300717]
synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; RBMX1A" RELATED [OMIM:300717]
xref: MESH:C567469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300717 {source="MONDO:equivalentTo"}
xref: UMLS:C2678027 {source="OMIM:300717", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019948 {source="ORDO:97239/btnt"} ! reducing body myopathy
property_value: exactMatch http://identifiers.org/mesh/C567469
property_value: exactMatch http://identifiers.org/omim/300717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678027

[Term]
id: MONDO:0010415
name: myopathy, reducing body, X-linked, childhood-onset
synonym: "myopathy, reducing body, X-linked, childhood-onset" EXACT [OMIM:300718]
synonym: "RBMX1B" RELATED [OMIM:300718]
synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset" RELATED [OMIM:300718]
synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset; RBMX1B" RELATED [OMIM:300718]
xref: MESH:C567468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300718 {source="MONDO:equivalentTo"}
xref: UMLS:C2678015 {source="OMIM:300718", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019948 {source="ORDO:97239/btnt"} ! reducing body myopathy
property_value: exactMatch http://identifiers.org/mesh/C567468
property_value: exactMatch http://identifiers.org/omim/300718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678015

[Term]
id: MONDO:0010416
name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities
synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" EXACT [OMIM:300719]
xref: MESH:C567467 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300719 {source="MONDO:equivalentTo"}
xref: UMLS:C2678011 {source="OMIM:300719", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C567467/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567467
property_value: exactMatch http://identifiers.org/omim/300719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678011

[Term]
id: MONDO:0010417
name: syndromic X-linked intellectual disability Najm type
def: "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." [Orphanet:163937]
subset: ordo_disease {source="Orphanet:163937"}
synonym: "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" RELATED [GARD:0012669]
synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical, OMIM:300749]
synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT [DOID:0060807]
synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH" RELATED [OMIM:300749]
synonym: "mental retardation, X-linked, syndromic, Najm type" RELATED [OMIM:300749]
synonym: "MICPCH" EXACT [DOID:0060807, MONDO:Lexical, OMIM:300749, Orphanet:163937]
synonym: "Micpch syndrome" RELATED [OMIM:300749]
synonym: "microcephaly with pontine and cerebellar hypoplasia" RELATED [GARD:0012669]
synonym: "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia" RELATED [GARD:0012669]
synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937]
synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937]
xref: DOID:0060807 {source="MONDO:equivalentTo"}
xref: GARD:0012669 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="Orphanet:163937", source="DOID:0060807", source="ORDO:163937/attributed", source="ORDO:163937/ntbt"}
xref: MESH:C567466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="ORDO:163937/e", source="MONDO:equivalentTo"}
xref: Orphanet:163937 {source="DOID:0060807", source="OMIM:300749", source="MONDO:equivalentTo"}
xref: UMLS:C2677903 {source="Orphanet:163937", source="OMIM:300749", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017118 {source="Orphanet:163937"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020119 {source="DC-OMIM:300749", source="DOID:0060807", source="OMIM:300749", source="Orphanet:163937"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060807
property_value: exactMatch http://identifiers.org/mesh/C567466
property_value: exactMatch http://identifiers.org/omim/300749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677903
property_value: exactMatch Orphanet:163937

[Term]
id: MONDO:0010418
name: hereditary spastic paraplegia 34
def: "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." [Orphanet:171607]
subset: ordo_disease {source="Orphanet:171607"}
synonym: "hereditary spastic paraplegia type 34" EXACT [DOID:0110785, MONDORULE:2]
synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical, OMIM:300750]
synonym: "spastic paraplegia 34, X-linked; SPG34" RELATED [OMIM:300750]
synonym: "SPG34" EXACT [DOID:0110785, MONDO:Lexical, OMIM:300750, Orphanet:171607]
synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785]
synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785]
xref: DOID:0110785 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:171607", source="ORDO:171607/attributed", source="ORDO:171607/ntbt", source="DOID:0110785"}
xref: MESH:C567465 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300750 {source="ORDO:171607/e", source="Orphanet:171607", source="MONDO:equivalentTo", source="DOID:0110785"}
xref: Orphanet:171607 {source="MONDO:equivalentTo", source="OMIM:300750", source="DOID:0110785"}
xref: SCTID:763370008 {source="MONDO:equivalentTo"}
xref: UMLS:C2677897 {source="MEDGEN:kboom-pr98-c99", source="ORDO:171607/e", source="NCBI:mim2gene_medline", source="Orphanet:171607", source="MONDO:equivalentTo", source="OMIM:300750"}
is_a: MONDO:0017912 {source="Orphanet:171607"} ! X-linked pure spastic paraplegia
property_value: exactMatch DOID:0110785
property_value: exactMatch http://identifiers.org/mesh/C567465
property_value: exactMatch http://identifiers.org/omim/300750
property_value: exactMatch http://identifiers.org/snomedct/763370008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677897
property_value: exactMatch Orphanet:171607

[Term]
id: MONDO:0010419
name: X-linked sideroblastic anemia
def: "X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." [Orphanet:75563]
subset: ordo_disease {source="Orphanet:75563"}
synonym: "anemia hereditary sideroblastic" RELATED [GARD:0009456]
synonym: "anemia sex-linked hypochromic sideroblastic" RELATED [GARD:0009456]
synonym: "anemia, hereditary sideroblastic" RELATED [OMIM:300751]
synonym: "anemia, hypochromic" RELATED [OMIM:300751]
synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751]
synonym: "anemia, sideroblastic, X-linked; XLSA" RELATED [OMIM:300751]
synonym: "ANH1" RELATED [GARD:0009456]
synonym: "erythroid 5-aminolevulinate synthase deficiency" RELATED [GARD:0009456]
synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751]
synonym: "SIDBA1" RELATED [OMIM:300751]
synonym: "sideroblastic anemia X-linked" RELATED [GARD:0009456]
synonym: "sideroblastic anemia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X chromosome-linked sideroblastic anemia" RELATED [GARD:0009456]
synonym: "XLSA" EXACT [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563]
xref: DOID:0060063 {source="MONDO:equivalentTo"}
xref: GARD:0009456 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D64.0 {source="Orphanet:75563", source="ORDO:75563/attributed", source="ORDO:75563/ntbt"}
xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="ORDO:75563/e"}
xref: Orphanet:75563 {source="MONDO:equivalentTo", source="OMIM:300751"}
xref: SCTID:62677000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.43/0.63"}
is_a: MONDO:0000425 {source="MESH:C536761", source="MONDO:Entailed", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0017754 {source="Orphanet:75563", source="linkedlifedata"} ! inborn disorder of porphyrin metabolism
is_a: MONDO:0020099 {source="Orphanet:75563"} ! constitutional sideroblastic anemia
property_value: exactMatch DOID:0060063
property_value: exactMatch http://identifiers.org/mesh/C536761
property_value: exactMatch http://identifiers.org/snomedct/62677000
property_value: exactMatch Orphanet:75563

[Term]
id: MONDO:0010420
name: X-linked erythropoietic protoporphyria
def: "X-linked form of erythropoietic protoporphyria." [MONDO:patterns/x_linked]
subset: ordo_disease {source="Orphanet:443197"}
synonym: "Erythrohepatic protoporphyria, X-linked" RELATED [OMIM:300752]
synonym: "erythropoietic protoporphyria, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "protoporphyria, erythropoietic, X-linked" RELATED [MONDO:Lexical, OMIM:300752]
synonym: "protoporphyria, erythropoietic, X-linked dominant" RELATED [OMIM:300752]
synonym: "protoporphyria, erythropoietic, X-linked; XLEPP" RELATED [OMIM:300752]
synonym: "X-linked dominant erythropoietic protoporphyria" EXACT [Orphanet:443197]
synonym: "X-linked dominant protoporphyria" EXACT [Orphanet:443197]
synonym: "XLDPP" EXACT [Orphanet:443197]
synonym: "XLEPP" RELATED [MONDO:Lexical, OMIM:300752]
synonym: "XLP" EXACT [Orphanet:443197]
synonym: "XLPP" EXACT [Orphanet:443197]
xref: GARD:0010915 {source="MONDO:equivalentTo"}
xref: ICD10:E80.0 {source="ORDO:443197/attributed", source="ORDO:443197/ntbt", source="Orphanet:443197"}
xref: MESH:C567464 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300752 {source="MONDO:equivalentTo", source="ORDO:443197/e", source="Orphanet:443197"}
xref: Orphanet:443197 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0001676 {source="DC-OMIM:300752", source="MESH:C567464", source="MONDO:Redundant", source="OMIM:300752"} ! erythropoietic protoporphyria
is_a: MONDO:0019142 ! inherited porphyria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677889
property_value: exactMatch http://identifiers.org/mesh/C567464
property_value: exactMatch http://identifiers.org/omim/300752
property_value: exactMatch Orphanet:443197

[Term]
id: MONDO:0010421
name: Bruton-type agammaglobulinemia
def: "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." [Orphanet:47]
subset: ordo_clinical_subtype {source="Orphanet:47"}
synonym: "agammaglobulinemia, Bruton tyrosine kinase" RELATED [GARD:0001033]
synonym: "agammaglobulinemia, BTK" RELATED [GARD:0001033]
synonym: "agammaglobulinemia, X-linked" RELATED [MONDO:Lexical, OMIM:300755]
synonym: "agammaglobulinemia, X-linked, type 1" RELATED [OMIM:300755]
synonym: "agammaglobulinemia, X-linked; XLA" RELATED [OMIM:300755]
synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [DOID:14179]
synonym: "Bruton type agammaglobulinemia" EXACT [Orphanet:47]
synonym: "Bruton's agammaglobulinaemia" EXACT [DOID:14179]
synonym: "Bruton's agammaglobulinemia" RELATED [GARD:0001033]
synonym: "Bruton's Sex-linked agammaglobulinemia" EXACT [DOID:14179, NCIT:C3822]
synonym: "Bruton's type agammaglobulinemia" EXACT [DOID:14179, MTHICD9_2006:279.04]
synonym: "Bruton's X-linked agammaglobulinemia" EXACT [NCIT:C3822]
synonym: "Bruton-type agammaglobulinemia" EXACT [OMIM:300755]
synonym: "BTK deficiency" EXACT [DOID:14179]
synonym: "BTK-deficiency" EXACT [Orphanet:47]
synonym: "hypogammaglobulinemia, X-linked" RELATED [OMIM:300755]
synonym: "immunodeficiency 1" RELATED [OMIM:300755]
synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822]
synonym: "XLA" RELATED [MONDO:Lexical, OMIM:300755]
xref: DOID:14179 {source="MONDO:equivalentTo"}
xref: GARD:0001033 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D80.0 {source="Orphanet:47", source="ORDO:47/ntbt", source="ORDO:47/inclusion"}
xref: MedDRA:10060360 {source="Orphanet:47", source="ORDO:47/e"}
xref: MESH:C537409 {source="Orphanet:47", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179"}
xref: NCIT:C3822 {source="MONDO:equivalentTo", source="DOID:14179", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:300755 {source="Orphanet:47", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179"}
xref: Orphanet:47 {source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755"}
xref: SCTID:65880007 {source="MONDO:equivalentTo", source="DOID:14179"}
xref: UMLS:C0221026 {source="Orphanet:47", source="NCBI:mim2gene_medline", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755", source="NCIT:C3822"}
is_a: MONDO:0016462 {source="Orphanet:47"} ! isolated agammaglobulinemia
property_value: closeMatch http://identifiers.org/snomedct/116133005
property_value: closeMatch http://identifiers.org/snomedct/190983003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241932
property_value: exactMatch DOID:14179
property_value: exactMatch http://identifiers.org/meddra/10060360
property_value: exactMatch http://identifiers.org/mesh/C537409
property_value: exactMatch http://identifiers.org/omim/300755
property_value: exactMatch http://identifiers.org/snomedct/65880007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221026
property_value: exactMatch NCIT:C3822
property_value: exactMatch Orphanet:47

[Term]
id: MONDO:0010422
name: Alzheimer disease 16
def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." [DOID:0110036, PMID:19136949]
synonym: "AD16" EXACT [DOID:0110036, MONDO:Lexical, OMIM:300756]
synonym: "Alzheimer disease 16" EXACT [MONDO:Lexical, OMIM:300756]
synonym: "Alzheimer disease 16; AD16" RELATED [OMIM:300756]
synonym: "Alzheimer's disease 16" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 16" EXACT [DOID:0110036, MONDORULE:2]
xref: DOID:0110036 {source="MONDO:equivalentTo"}
xref: MESH:C567463 {source="MONDO:equivalentTo"}
xref: OMIM:300756 {source="MONDO:equivalentTo", source="DOID:0110036"}
xref: UMLS:C2677888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300756"}
is_a: MONDO:0004975 {source="DC-OMIM:300756", source="DOID:0110036", source="MESH:C567463", source="MONDOLEX:0010422"} ! Alzheimer disease
property_value: exactMatch DOID:0110036
property_value: exactMatch http://identifiers.org/mesh/C567463
property_value: exactMatch http://identifiers.org/omim/300756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677888

[Term]
id: MONDO:0010423
name: hypospadias 2, X-linked
synonym: "hypospadias 2, X-linked" EXACT [MONDO:Lexical, OMIM:300758]
synonym: "hypospadias 2, X-linked; HYSP2" RELATED [OMIM:300758]
synonym: "HYSP2" RELATED [MONDO:Lexical, OMIM:300758]
xref: MESH:C567462 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300758 {source="MONDO:equivalentTo"}
xref: UMLS:C2677879 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300758"}
is_a: MONDO:0005345 {source="DC-OMIM:300758", source="MESH:C567462", source="OMIM:300758"} ! hypospadias (disease)
property_value: exactMatch http://identifiers.org/mesh/C567462
property_value: exactMatch http://identifiers.org/omim/300758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677879

[Term]
id: MONDO:0010424
name: surfactant metabolism dysfunction, pulmonary, 4
synonym: "Csf2Ra deficiency" RELATED [OMIM:300770]
synonym: "Pap due to Csf2Ra deficiency" RELATED [OMIM:300770]
synonym: "pulmonary alveolar proteinosis, congenital, 4" RELATED [OMIM:300770]
synonym: "SMDP4" RELATED [MONDO:Lexical, OMIM:300770]
synonym: "surfactant metabolism dysfunction, pulmonary, 4" EXACT [MONDO:Lexical, OMIM:300770]
synonym: "surfactant metabolism dysfunction, pulmonary, 4; SMDP4" RELATED [OMIM:300770]
synonym: "surfactant metabolism dysfunction, pulmonary, type 4" EXACT [MONDORULE:1, OMIM:300770]
xref: MESH:C567461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300770 {source="MONDO:equivalentTo"}
xref: UMLS:C2677877 {source="NCBI:mim2gene_medline", source="OMIM:300770", source="MONDO:equivalentTo"}
is_a: MONDO:0012580 {source="MONDOLEX:0010424", source="OMIM:300770", source="ORDO:264675/btnt"} ! hereditary pulmonary alveolar proteinosis
property_value: exactMatch http://identifiers.org/mesh/C567461
property_value: exactMatch http://identifiers.org/omim/300770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677877

[Term]
id: MONDO:0010425
name: Lisch epithelial corneal dystrophy
def: "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." [Orphanet:98955]
subset: ordo_disease {source="Orphanet:98955"}
synonym: "band-shaped and whorled microcystic" EXACT [DOID:0060450]
synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [OMIM:300778]
synonym: "band-shaped and whorled microcystic dystrophy of the corneal epithelium" EXACT [Orphanet:98955]
synonym: "corneal dystrophy, Lisch epithelial" RELATED [MONDO:Lexical, OMIM:300778]
synonym: "corneal dystrophy, Lisch epithelial; LECD" RELATED [OMIM:300778]
synonym: "LECD" EXACT [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955]
synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778]
xref: DOID:0060450 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="ORDO:98955/attributed", source="ORDO:98955/ntbt"}
xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300778 {source="DOID:0060450", source="ORDO:98955/e", source="MONDO:equivalentTo", source="Orphanet:98955"}
xref: Orphanet:98955 {source="DOID:0060450", source="MONDO:equivalentTo", source="OMIM:300778"}
xref: SCTID:724175002 {source="MONDO:equivalentTo"}
xref: UMLS:C2749050 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98955", source="OMIM:300778"}
is_a: MONDO:0000763 {source="DOID:0060450"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98955"} ! superficial corneal dystrophy
property_value: exactMatch DOID:0060450
property_value: exactMatch http://identifiers.org/mesh/C567588
property_value: exactMatch http://identifiers.org/omim/300778
property_value: exactMatch http://identifiers.org/snomedct/724175002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749050
property_value: exactMatch Orphanet:98955

[Term]
id: MONDO:0010426
name: X-linked endothelial corneal dystrophy
def: "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." [Orphanet:293621]
subset: ordo_disease {source="Orphanet:293621"}
synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical, OMIM:300779]
synonym: "corneal dystrophy, endothelial, X-linked; XECD" RELATED [OMIM:300779]
synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779]
synonym: "XECD" EXACT [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621]
xref: DOID:0060446 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="ORDO:293621/attributed", source="ORDO:293621/ntbt", source="DOID:0060446", source="Orphanet:293621"}
xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300779 {source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621", source="ORDO:293621/e"}
xref: Orphanet:293621 {source="DOID:0060446", source="MONDO:equivalentTo", source="OMIM:300779"}
xref: SCTID:718579008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2749049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:293621", source="OMIM:300779"}
is_a: MONDO:0000766 {source="DOID:0060446", source="linkedlifedata"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:293621", source="linkedlifedata", source="linkedlifedata/inferred"} ! posterior corneal dystrophy
property_value: exactMatch DOID:0060446
property_value: exactMatch http://identifiers.org/mesh/C567587
property_value: exactMatch http://identifiers.org/omim/300779
property_value: exactMatch http://identifiers.org/snomedct/718579008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749049
property_value: exactMatch Orphanet:293621

[Term]
id: MONDO:0010427
name: syndromic X-linked intellectual disability Raymond type
def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1." [DOID:0060824, PMID:17436253, PMID:19377476]
synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT [DOID:0060824]
synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical, OMIM:300799]
synonym: "mental retardation, X-linked, syndromic, Raymond type; MRXSR" RELATED [OMIM:300799]
synonym: "MRXSR" EXACT [DOID:0060824, MONDO:Lexical, OMIM:300799]
xref: DOID:0060824 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060824"}
xref: OMIM:300799 {source="MONDO:equivalentTo", source="DOID:0060824"}
xref: UMLS:C3275406 {source="MONDO:equivalentTo", source="OMIM:300799"}
is_a: MONDO:0020119 {source="DC-OMIM:300799", source="DOID:0060824", source="OMIM:300799"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749033
property_value: closeMatch Orphanet:163953
property_value: exactMatch DOID:0060824
property_value: exactMatch http://identifiers.org/omim/300799
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275406

[Term]
id: MONDO:0010428
name: chromosome Xp11.23-p11.22 duplication syndrome
def: "recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." [Orphanet:217377]
subset: ordo_malformation_syndrome {source="Orphanet:217377"}
synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [OMIM:300801]
synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [DOID:0060461]
synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377]
xref: DOID:0060461 {source="MONDO:equivalentTo"}
xref: GARD:0012766 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q99.8 {source="DOID:0060461", source="Orphanet:217377", source="ORDO:217377/attributed", source="ORDO:217377/ntbt"}
xref: MESH:C567585 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300801 {source="DOID:0060461", source="MONDO:equivalentTo", source="Orphanet:217377", source="ORDO:217377/e"}
xref: Orphanet:217377 {source="DOID:0060461", source="MONDO:equivalentTo", source="OMIM:300801"}
xref: SCTID:721881008 {source="MONDO:kboom-pr-1.00/0.80/9.07", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217377", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DC-OMIM:300801", source="DOID:0060461"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:217377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:217377"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0017009 {source="Orphanet:217377"} ! partial duplication of the short arm of chromosome X
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749022
property_value: exactMatch DOID:0060461
property_value: exactMatch http://identifiers.org/mesh/C567585
property_value: exactMatch http://identifiers.org/omim/300801
property_value: exactMatch http://identifiers.org/snomedct/721881008
property_value: exactMatch Orphanet:217377

[Term]
id: MONDO:0010429
name: intellectual disability, X-linked 96
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 96" RELATED [MONDO:Lexical, OMIM:300802]
synonym: "mental retardation, X-linked 96; MRX96" RELATED [OMIM:300802]
synonym: "mental retardation, X-linked type 96" EXACT [MONDORULE:2, OMIM:300802]
synonym: "MRX96" RELATED [MONDO:Lexical, OMIM:300802]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in SYP" EXACT [MONDO:design_pattern]
synonym: "SYP non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300802 {source="MONDO:equivalentTo"}
xref: UMLS:C3275408 {source="MONDO:equivalentTo", source="OMIM:300802"}
is_a: MONDO:0019181 {source="DC-OMIM:300802", source="MONDO:Redundant", source="OMIM:300802"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749021
property_value: exactMatch http://identifiers.org/omim/300802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275408

[Term]
id: MONDO:0010430
name: intellectual disability, X-linked 97
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 65" RELATED [OMIM:300803]
synonym: "mental retardation, X-linked 97" RELATED [MONDO:Lexical, OMIM:300803]
synonym: "mental retardation, X-linked 97; MRX97" RELATED [OMIM:300803]
synonym: "mental retardation, X-linked type 97" EXACT [MONDORULE:2, OMIM:300803]
synonym: "MRX97" RELATED [MONDO:Lexical, OMIM:300803]
synonym: "Mrxz" RELATED [OMIM:300803]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" EXACT [MONDO:design_pattern]
synonym: "ZNF711 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567583 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300803 {source="MONDO:equivalentTo"}
xref: UMLS:C2749020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300803"}
is_a: MONDO:0019181 {source="DC-OMIM:300803", source="MONDO:Redundant", source="OMIM:300803"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567583
property_value: exactMatch http://identifiers.org/omim/300803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749020

[Term]
id: MONDO:0010431
name: Joubert syndrome 10
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS10" EXACT [DOID:0110981, MONDO:Lexical, OMIM:300804]
synonym: "Joubert syndrome 10" EXACT [MONDO:Lexical, OMIM:300804]
synonym: "Joubert syndrome 10; JBTS10" RELATED [OMIM:300804]
synonym: "Joubert syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 10" EXACT [DOID:0110981, MONDORULE:2, OMIM:300804]
synonym: "OFD1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110981 {source="MONDO:equivalentTo"}
xref: MESH:C567582 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300804 {source="MONDO:equivalentTo", source="DOID:0110981"}
xref: UMLS:C2749019 {source="OMIM:300804", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0110981", source="MONDO:Redundant", source="OMIM:300804", source="indirect"} ! Joubert syndrome
property_value: exactMatch DOID:0110981
property_value: exactMatch http://identifiers.org/mesh/C567582
property_value: exactMatch http://identifiers.org/omim/300804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749019

[Term]
id: MONDO:0010432
name: thrombophilia, X-linked, due to factor 9 defect
def: "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)." [https://orcid.org/0000-0003-4062-6158, OMIM:300807]
synonym: "deep Venous thrombosis, protection against" RELATED [OMIM:300807]
synonym: "THPH8" RELATED [MONDO:Lexical, OMIM:300807]
synonym: "thrombophilia, X-linked, due to factor IX defect" EXACT [https://orcid.org/0000-0003-4062-6158, MONDO:Lexical, OMIM:300807]
synonym: "thrombophilia, X-linked, due to factor IX defect; THPH8" RELATED [OMIM:300807]
xref: MESH:C567581 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300807 {source="MONDO:equivalentTo"}
xref: UMLS:C2749016 {source="OMIM:300807", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002305 {source="DC-OMIM:300807", source="MESH:C567581", source="OMIM:300807"} ! thrombophilia
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275410
property_value: exactMatch http://identifiers.org/mesh/C567581
property_value: exactMatch http://identifiers.org/omim/300807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749016

[Term]
id: MONDO:0010433
name: systemic lupus erythematosus, susceptibility to, 15
subset: predisposition
synonym: "SLEB15" EXACT [MONDO:Lexical, OMIM:300809]
synonym: "systemic lupus erythematosus, susceptibility to, 15" EXACT [MONDO:Lexical, OMIM:300809]
synonym: "systemic lupus erythematosus, susceptibility to, 15; SLEB15" EXACT [OMIM:300809]
xref: OMIM:300809 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749008
property_value: exactMatch http://identifiers.org/omim/300809

[Term]
id: MONDO:0010434
name: synovial sarcoma (disease)
def: "Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." [Orphanet:3273]
subset: ordo_disease {source="Orphanet:3273"}
synonym: "sarcoma, synovial" RELATED [OMIM:300813]
synonym: "sarcoma, synovial, malignant" EXACT [NCIT:C3400]
synonym: "SS" BROAD [NCIT:C3400]
synonym: "synovial sarcoma" EXACT [MONDO:ambiguous, NCIT:C3400]
synonym: "synovial sarcoma, NOS" RELATED EXCLUDE [NCIT:C3400]
synonym: "synovial sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C3400]
synonym: "Synovialosarcoma" EXACT [Orphanet:3273]
xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"}
xref: EFO:0001376 {source="MONDO:equivalentTo"}
xref: GARD:0007721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0012570 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="Orphanet:3273", source="ORDO:3273/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9040/3 {source="NCIT:C3400"}
xref: MedDRA:10042863 {source="Orphanet:3273", source="ORDO:3273/e"}
xref: MESH:D013584 {source="EFO:0001376", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5485"}
xref: NCIT:C3400 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"}
xref: OMIM:300813 {source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485"}
xref: ONCOTREE:SYNS {source="MONDO:equivalentTo"}
xref: Orphanet:3273 {source="MONDO:equivalentTo", source="OMIM:300813"}
xref: SCTID:302851001 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0039101 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3400", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485", source="OMIM:300813"}
is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273", source="linkedlifedata"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002403 {source="DOID:5485", source="synovial sarcomas are not necessarily of synovial origin"} ! synovium cancer
property_value: closeMatch http://identifiers.org/snomedct/63211008
property_value: exactMatch DOID:5485
property_value: exactMatch http://identifiers.org/meddra/10042863
property_value: exactMatch http://identifiers.org/mesh/D013584
property_value: exactMatch http://identifiers.org/omim/300813
property_value: exactMatch http://identifiers.org/snomedct/302851001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039101
property_value: exactMatch NCIT:C3400
property_value: exactMatch Orphanet:3273

[Term]
id: MONDO:0010435
name: nystagmus 6, congenital, X-linked
synonym: "NYS6" RELATED [MONDO:Lexical, OMIM:300814]
synonym: "nystagmus 6, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:300814]
synonym: "NYSTAGMUS 6, congenital, X-linked; NYS6" RELATED [OMIM:300814]
xref: OMIM:300814 {source="MONDO:equivalentTo"}
xref: UMLS:C3151752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300814"}
is_a: MONDO:0005712 {source="DC-OMIM:300814", source="OMIM:300814"} ! congenital nystagmus
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/omim/300814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151752

[Term]
id: MONDO:0010436
name: chromosome Xq28 duplication syndrome
synonym: "chromosome Xq28 duplication syndrome" EXACT [OMIM:300815]
xref: MESH:C567580 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300815 {source="MONDO:equivalentTo"}
xref: UMLS:C2749007 {source="OMIM:300815", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DC-OMIM:300815"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0010283 {source="ORDO:1762/btnt"} ! syndromic X-linked intellectual disability Lubs type
property_value: exactMatch http://identifiers.org/mesh/C567580
property_value: exactMatch http://identifiers.org/omim/300815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749007

[Term]
id: MONDO:0010437
name: severe X-linked mitochondrial encephalomyopathy
def: "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." [Orphanet:238329]
subset: ordo_disease {source="Orphanet:238329"}
synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical, OMIM:300816]
synonym: "combined oxidative phosphorylation deficiency 6; COXPD6" RELATED [OMIM:300816]
synonym: "combined oxidative phosphorylation deficiency type 6" EXACT [MONDORULE:1, OMIM:300816]
synonym: "COXPD6" RELATED [MONDO:Lexical, OMIM:300816]
synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816]
synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329]
synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329]
xref: ICD10:G31.8 {source="Orphanet:238329", source="ORDO:238329/attributed", source="ORDO:238329/ntbt"}
xref: OMIM:300816 {source="Orphanet:238329", source="ORDO:238329/e", source="MONDO:equivalentTo"}
xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"}
xref: SCTID:722212004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3151753 {source="OMIM:300816", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4302745 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:300816", source="OMIM:300816"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:238329"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:238329"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/300816
property_value: exactMatch http://identifiers.org/snomedct/722212004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151753
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302745
property_value: exactMatch Orphanet:238329

[Term]
id: MONDO:0010438
name: paroxysmal nocturnal hemoglobinuria 1
def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "paroxysmal nocturnal hemoglobinuria 1" EXACT [MONDO:Lexical, OMIM:300818]
synonym: "paroxysmal nocturnal hemoglobinuria 1; PNH1" RELATED [OMIM:300818]
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA" EXACT []
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA" EXACT [MONDO:design_pattern]
synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1, OMIM:300818]
synonym: "PIGA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "pIgA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern]
synonym: "PNH1" RELATED [MONDO:Lexical, OMIM:300818]
xref: OMIM:300818 {source="MONDO:equivalentTo"}
xref: UMLS:C3806670 {source="OMIM:300818", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018641 {source="DC-OMIM:300818", source="MONDO:Redundant", source="MONDOLEX:0010438", source="OMIM:300818"} ! paroxysmal nocturnal hemoglobinuria
property_value: exactMatch http://identifiers.org/omim/300818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806670

[Term]
id: MONDO:0010439
name: cardiomyopathy, fatal fetal, due to myocardial calcification
subset: gard_rare {source="GARD:0008311"}
synonym: "cardiomyopathy, fatal fetal, due to myocardial calcification" EXACT [OMIM:300829]
synonym: "myocardial calcifications resulting in intrauterine fetal death" RELATED [GARD:0008311]
xref: GARD:0008311 {source="MONDO:equivalentTo"}
xref: MESH:C543241 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300829 {source="MONDO:equivalentTo"}
xref: UMLS:C1853577 {source="OMIM:300829", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/omim/606163
property_value: exactMatch http://identifiers.org/mesh/C543241
property_value: exactMatch http://identifiers.org/omim/300829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853577
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification xsd:anyURI {source="GARD:0008311"}

[Term]
id: MONDO:0010440
name: autism, susceptibility to, X-linked 4
subset: gard_rare {source="GARD:0003775"}
subset: predisposition
synonym: "autism, susceptibility to, X-linked 4" EXACT [MONDO:Lexical, OMIM:300830]
synonym: "autism, susceptibility to, X-linked 4; AUTSX4" RELATED [OMIM:300830]
synonym: "autism, susceptibility to, X-linked type 4" EXACT [MONDORULE:1, OMIM:300830]
synonym: "AUTSX4" RELATED [MONDO:Lexical, OMIM:300830]
synonym: "chromosome Xp22 deletion syndrome" RELATED [OMIM:300830]
synonym: "susceptibility to autism, X-linked" RELATED [GARD:0003775]
synonym: "susceptibility to X-linked autism 4" RELATED [OMIM:300830]
synonym: "X-linked susceptibility to autism-4" RELATED [GARD:0003775]
xref: GARD:0003775 {source="MONDO:equivalentTo"}
xref: OMIM:300830 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300830"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795888
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931311
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/300830
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4 xsd:anyURI {source="GARD:0003775"}

[Term]
id: MONDO:0010441
name: CK syndrome
subset: ordo_malformation_syndrome {source="Orphanet:251383"}
synonym: "CK syndrome" EXACT [OMIM:300831]
synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED [OMIM:300831]
synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383]
xref: OMIM:300831 {source="ORDO:251383/e", source="Orphanet:251383", source="MONDO:equivalentTo"}
xref: Orphanet:251383 {source="MONDO:equivalentTo", source="OMIM:300831"}
xref: UMLS:C3151781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300831"}
is_a: MONDO:0000508 {source="Orphanet:251383", source="Orphanet:251383/inferred"} ! syndromic intellectual disability
is_a: MONDO:0017120 {source="Orphanet:251383"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/omim/300831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151781
property_value: exactMatch Orphanet:251383

[Term]
id: MONDO:0010442
name: 46,XX sex reversal 3
synonym: "46,XX sex reversal 3" EXACT [MONDO:Lexical, OMIM:300833]
synonym: "46,XX SEX reversal 3; SRXX3" RELATED [OMIM:300833]
synonym: "46,XX Sex reversal type 3" EXACT [MONDORULE:1, OMIM:300833]
synonym: "46,XX Sex reversal, Sox3-related" RELATED [OMIM:300833]
synonym: "chromosome Xq26 deletion syndrome" RELATED [OMIM:300833]
synonym: "chromosome Xq26 Duplication syndrome" RELATED [OMIM:300833]
synonym: "SRXX3" RELATED [MONDO:Lexical, OMIM:300833]
xref: OMIM:300833 {source="MONDO:equivalentTo"}
xref: UMLS:C3151782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300833"}
is_a: MONDO:0010766 {source="MONDOLEX:0010442", source="ORDO:393/btnt"} ! 46,XX testicular disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151783
property_value: exactMatch http://identifiers.org/omim/300833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151782

[Term]
id: MONDO:0010443
name: macular degeneration, X-linked atrophic
synonym: "macular degeneration, X-linked atrophic" EXACT [OMIM:300834]
xref: OMIM:300834 {source="MONDO:equivalentTo"}
xref: UMLS:C3151784 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300834"}
is_a: MONDO:0015993 ! cone-rod dystrophy
property_value: exactMatch http://identifiers.org/omim/300834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151784

[Term]
id: MONDO:0010444
name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
subset: ordo_disease {source="Orphanet:363727"}
synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835]
synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities; XLANP" RELATED [OMIM:300835]
synonym: "XLANP" RELATED [MONDO:Lexical, OMIM:300835]
xref: ICD10:D64.4 {source="MONDO:subClassOf", source="ORDO:363727/attributed", source="ORDO:363727/ntbt", source="Orphanet:363727"}
xref: OMIM:300835 {source="MONDO:equivalentTo", source="ORDO:363727/e", source="Orphanet:363727"}
xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"}
is_a: MONDO:0016361 {source="Orphanet:363727"} ! isolated hereditary giant platelet disorder
is_a: MONDO:0019403 {source="Orphanet:363727"} ! congenital dyserythropoietic anemia
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151785
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3550856
property_value: exactMatch http://identifiers.org/omim/300835
property_value: exactMatch Orphanet:363727

[Term]
id: MONDO:0010445
name: obsolete McLeod syndrome
is_obsolete: true
replaced_by: MONDO:0018945

[Term]
id: MONDO:0010446
name: X-linked cone dysfunction syndrome with myopia
def: "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." [Orphanet:90001]
subset: ordo_disease {source="Orphanet:90001"}
synonym: "bed" RELATED [MONDO:Lexical, OMIM:300843]
synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843]
synonym: "Bornholm eye disease" EXACT [Orphanet:90001]
synonym: "BORNHOLM eye disease; bed" RELATED [OMIM:300843]
synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843]
xref: ICD10:H53.8 {source="Orphanet:90001", source="ORDO:90001/attributed", source="ORDO:90001/ntbt"}
xref: MESH:C564092 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300843 {source="ORDO:90001/e", source="MONDO:equivalentTo", source="Orphanet:90001"}
xref: Orphanet:90001 {source="MONDO:equivalentTo", source="OMIM:300843"}
xref: SCTID:718718009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3159311 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90001", source="OMIM:300843"}
is_a: MONDO:0020208 {source="Orphanet:90001"} ! syndromic myopia
property_value: exactMatch http://identifiers.org/mesh/C564092
property_value: exactMatch http://identifiers.org/omim/300843
property_value: exactMatch http://identifiers.org/snomedct/718718009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3159311
property_value: exactMatch Orphanet:90001

[Term]
id: MONDO:0010447
name: intellectual disability, X-linked 19
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 19" RELATED [MONDO:Lexical, OMIM:300844]
synonym: "mental retardation, X-linked 19; MRX19" RELATED [OMIM:300844]
synonym: "mental retardation, X-linked type 19" EXACT [MONDORULE:2, OMIM:300844]
synonym: "MRX19" RELATED [MONDO:Lexical, OMIM:300844]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" EXACT [MONDO:design_pattern]
synonym: "RPS6KA3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300844 {source="MONDO:equivalentTo"}
xref: UMLS:C0796225 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300844"}
is_a: MONDO:0019181 {source="DC-OMIM:300844", source="MONDO:Redundant", source="OMIM:300844"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563141
property_value: exactMatch http://identifiers.org/omim/300844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796225

[Term]
id: MONDO:0010448
name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
def: "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." [Orphanet:280679]
subset: ordo_disease {source="Orphanet:280679"}
synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845]
synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845]
synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; MYMY4" RELATED [OMIM:300845]
synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679]
synonym: "MYMY4" RELATED [MONDO:Lexical, OMIM:300845]
synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845]
xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="ORDO:280679/e"}
xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"}
xref: UMLS:C3151857 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300845"}
is_a: MONDO:0016820 {source="DC-OMIM:300845", source="OMIM:300845"} ! Moyamoya disease
is_a: MONDO:0018792 {source="Orphanet:280679"} ! Moyamoya syndrome
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:280679"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/300845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151857
property_value: exactMatch Orphanet:280679

[Term]
id: MONDO:0010449
name: autism, susceptibility to, X-linked 5
subset: predisposition
synonym: "autism, susceptibility to, X-linked 5" EXACT [MONDO:Lexical, OMIM:300847]
synonym: "autism, susceptibility to, X-linked 5; AUTSX5" RELATED [OMIM:300847]
synonym: "autism, susceptibility to, X-linked type 5" EXACT [MONDORULE:1, OMIM:300847]
synonym: "AUTSX5" RELATED [MONDO:Lexical, OMIM:300847]
synonym: "susceptibility to X-linked autism 5" RELATED [OMIM:300847]
xref: OMIM:300847 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275438
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/300847

[Term]
id: MONDO:0010450
name: MRX89
synonym: "mental retardation, X-linked 89" RELATED [MONDO:Lexical, OMIM:300848]
synonym: "mental retardation, X-linked 89; MRX89" RELATED [OMIM:300848]
synonym: "MRX89" EXACT [MONDO:Lexical, OMIM:300848]
xref: MESH:C564036 {source="MONDO:equivalentTo"}
xref: OMIM:300848 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300848", source="OMIM:300848"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839082
property_value: exactMatch http://identifiers.org/mesh/C564036
property_value: exactMatch http://identifiers.org/omim/300848

[Term]
id: MONDO:0010451
name: intellectual disability, X-linked 41
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDI1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 41" RELATED [MONDO:Lexical, OMIM:300849]
synonym: "mental retardation, X-linked 41; MRX41" RELATED [OMIM:300849]
synonym: "mental retardation, X-linked 48" RELATED [OMIM:300849]
synonym: "mental retardation, X-linked type 41" EXACT [MONDORULE:2, OMIM:300849]
synonym: "MRX41" RELATED [MONDO:Lexical, OMIM:300849]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in GDI1" EXACT [MONDO:design_pattern]
xref: OMIM:300849 {source="MONDO:equivalentTo"}
xref: UMLS:C3887939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300849", source="MONDO:Redundant", source="OMIM:300849"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415038
property_value: exactMatch http://identifiers.org/omim/300849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887939

[Term]
id: MONDO:0010452
name: intellectual disability, X-linked 90
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DLG3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 90" RELATED [MONDO:Lexical, OMIM:300850]
synonym: "mental retardation, X-linked 90; MRX90" RELATED [OMIM:300850]
synonym: "mental retardation, X-linked type 90" EXACT [MONDORULE:2, OMIM:300850]
synonym: "MRX90" RELATED [MONDO:Lexical, OMIM:300850]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in DLG3" EXACT [MONDO:design_pattern]
xref: OMIM:300850 {source="MONDO:equivalentTo"}
xref: UMLS:C3275443 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300850"}
is_a: MONDO:0019181 {source="DC-OMIM:300850", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275443

[Term]
id: MONDO:0010453
name: MRX92
synonym: "mental retardation, X-linked 92" RELATED [MONDO:Lexical, OMIM:300851]
synonym: "mental retardation, X-linked 92; MRX92" RELATED [OMIM:300851]
synonym: "MRX92" EXACT [MONDO:Lexical, OMIM:300851]
xref: MESH:C564483 {source="MONDO:equivalentTo"}
xref: OMIM:300851 {source="MONDO:equivalentTo"}
xref: UMLS:C1845144 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300851"}
is_a: MONDO:0019181 {source="DC-OMIM:300851", source="OMIM:300851"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564483
property_value: exactMatch http://identifiers.org/omim/300851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845144

[Term]
id: MONDO:0010454
name: MRX88
synonym: "mental retardation, X-linked 88" RELATED [MONDO:Lexical, OMIM:300852]
synonym: "mental retardation, X-linked 88; MRX88" RELATED [OMIM:300852]
synonym: "MRX88" EXACT [MONDO:Lexical, OMIM:300852]
xref: OMIM:300852 {source="MONDO:equivalentTo"}
xref: UMLS:C3275444 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300852"}
is_a: MONDO:0019181 {source="DC-OMIM:300852", source="OMIM:300852"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275444

[Term]
id: MONDO:0010455
name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
def: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." [Orphanet:317476]
subset: ordo_disease {source="Orphanet:317476"}
synonym: "Cid due to MAGT1 deficiency" EXACT [Orphanet:317476]
synonym: "combined immunodeficiency due to MAGT1 deficiency" EXACT [Orphanet:317476]
synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" RELATED [MONDO:Lexical, OMIM:300853]
synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia; XMEN" RELATED [OMIM:300853]
synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" RELATED [DOID:0080319]
synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" RELATED [GARD:0010907]
synonym: "XMEN" EXACT [MONDO:Lexical, OMIM:300853, Orphanet:317476]
xref: DOID:0080319 {source="MONDO:equivalentTo"}
xref: GARD:0010907 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D81.8 {source="ORDO:317476/attributed", source="ORDO:317476/ntbt", source="Orphanet:317476"}
xref: OMIM:300853 {source="MONDO:equivalentTo", source="ORDO:317476/e", source="Orphanet:317476"}
xref: Orphanet:317476 {source="MONDO:equivalentTo", source="OMIM:300853"}
xref: SCTID:711481001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3275445 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300853"}
is_a: MONDO:0018814 {source="Orphanet:317476"} ! non-severe combined immunodeficiency
property_value: exactMatch DOID:0080319
property_value: exactMatch http://identifiers.org/omim/300853
property_value: exactMatch http://identifiers.org/snomedct/711481001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275445
property_value: exactMatch Orphanet:317476

[Term]
id: MONDO:0010456
name: renal cell carcinoma, Xp11-associated
synonym: "RCCX1" RELATED [MONDO:Lexical, OMIM:300854]
synonym: "renal cell carcinoma, Xp11-associated" EXACT [MONDO:Lexical, OMIM:300854]
synonym: "renal cell carcinoma, Xp11-associated; RCCX1" RELATED [OMIM:300854]
xref: OMIM:300854 {source="MONDO:equivalentTo"}
xref: UMLS:C3275446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300854"}
is_a: MONDO:0017886 {source="ORDO:319308/btnt"} ! MIT family translocation renal cell carcinoma
property_value: exactMatch http://identifiers.org/omim/300854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275446

[Term]
id: MONDO:0010457
name: Ogden syndrome
def: "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." [Orphanet:276432]
comment: Editor note: check GARD
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:276432"}
synonym: "Acetyl-CoA:arylamine n-acetyltransferase" RELATED [GARD:0000188]
synonym: "arylamine n-acetyltransferase 1" RELATED [GARD:0000188]
synonym: "N acetyltransferase 1 deficiency" RELATED [GARD:0000188]
synonym: "N acetyltransferase deficiency" RELATED [GARD:0000188]
synonym: "N-alpha-acetyltransferase" EXACT [DOID:0050781]
synonym: "N-terminal acetyltransferase deficiency" EXACT [DOID:0050781, OMIM:300855]
synonym: "NAT1 deficiency" RELATED [GARD:0000188]
synonym: "Ogden syndrome" EXACT [MONDO:Lexical, OMIM:300855, Orphanet:276432]
synonym: "Ogden syndrome; OGDNS" RELATED [OMIM:300855]
synonym: "OGDNS" EXACT [DOID:0050781, MONDO:Lexical, OMIM:300855]
synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432]
synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781]
xref: DOID:0050781 {source="MONDO:equivalentTo"}
xref: GARD:0000188 {source="MONDO:equivalentTo"}
xref: HGNC:7645 {source="GARD:0000188"}
xref: MESH:C536107 {source="MONDO:equivalentTo"}
xref: OMIM:300855 {source="DOID:0050781", source="ORDO:276432/e", source="Orphanet:276432", source="MONDO:equivalentTo"}
xref: Orphanet:276432 {source="MONDO:equivalentTo", source="OMIM:300855"}
xref: UMLS:C3275447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300855"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015333 {source="Orphanet:276432"} ! progeroid syndrome
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931113
property_value: exactMatch DOID:0050781
property_value: exactMatch http://identifiers.org/mesh/C536107
property_value: exactMatch http://identifiers.org/omim/300855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275447
property_value: exactMatch Orphanet:276432

[Term]
id: MONDO:0010458
name: hypospadias 4, X-linked
synonym: "hypospadias 4, X-linked, susceptibility to" RELATED [MONDO:Lexical, OMIM:300856]
synonym: "hypospadias 4, X-linked, susceptibility to; HYSP4" RELATED [OMIM:300856]
synonym: "HYSP4" RELATED [MONDO:Lexical, OMIM:300856]
xref: OMIM:300856 {source="MONDO:equivalentTo"}
is_a: MONDO:0005345 {source="DC-OMIM:300856", source="OMIM:300856"} ! hypospadias (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275458
property_value: exactMatch http://identifiers.org/omim/300856

[Term]
id: MONDO:0010459
name: amyotrophic lateral sclerosis type 15
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS15" EXACT [DOID:0060206, MONDO:Lexical, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia; ALS15" RELATED [OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206, OMIM:300857]
synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MONDO:design_pattern]
synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060206 {source="MONDO:equivalentTo"}
xref: OMIM:300857 {source="MONDO:equivalentTo", source="DOID:0060206"}
xref: UMLS:C3275459 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300857"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060206
property_value: exactMatch http://identifiers.org/omim/300857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275459

[Term]
id: MONDO:0010460
name: syndromic X-linked intellectual disability 17
def: "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." [Orphanet:289483]
subset: ordo_disease {source="Orphanet:289483"}
synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [DOID:0060803]
synonym: "mental retardation, X-linked, syndromic 17" EXACT [DOID:0060803, MONDO:Lexical, OMIM:300858]
synonym: "mental retardation, X-linked, syndromic 17; MRXS17" RELATED [OMIM:300858]
synonym: "mental retardation, X-linked, with alacrima and achalasia" RELATED [OMIM:300858]
synonym: "MRXS17" RELATED [MONDO:Lexical, OMIM:300858]
synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:0060803, MONDORULE:2]
synonym: "X-linked mental retardation with alacrima and achalasia" EXACT [DOID:0060803]
xref: DOID:0060803 {source="MONDO:equivalentTo"}
xref: OMIM:300858 {source="MONDO:equivalentTo", source="ORDO:289483/e", source="DOID:0060803", source="Orphanet:289483"}
xref: Orphanet:289483 {source="MONDO:equivalentTo", source="DOID:0060803", source="OMIM:300858"}
xref: UMLS:C3275460 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300858"}
is_a: MONDO:0020119 {source="DC-OMIM:300858", source="DOID:0060803", source="OMIM:300858"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020194 {source="Orphanet:289483"} ! congenital alacrima
property_value: exactMatch DOID:0060803
property_value: exactMatch http://identifiers.org/omim/300858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275460
property_value: exactMatch Orphanet:289483

[Term]
id: MONDO:0010461
name: syndromic X-linked intellectual disability Nascimento type
def: "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." [Orphanet:163956]
subset: ordo_disease {source="Orphanet:163956"}
synonym: "mental retardation, X-linked syndromic, Nascimento-type" EXACT [DOID:0060820]
synonym: "mental retardation, X-linked, syndromic 30" RELATED [OMIM:300860]
synonym: "mental retardation, X-linked, syndromic, Nascimento type" RELATED [MONDO:Lexical, OMIM:300860]
synonym: "mental retardation, X-linked, syndromic, Nascimento type; MRXSN" RELATED [OMIM:300860]
synonym: "MRXSN" RELATED [MONDO:Lexical, OMIM:300860]
synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956]
synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956]
xref: DOID:0060820 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060820", source="ORDO:163956/attributed", source="ORDO:163956/ntbt", source="Orphanet:163956"}
xref: OMIM:300860 {source="DOID:0060820", source="MONDO:equivalentTo", source="ORDO:163956/e", source="Orphanet:163956"}
xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", source="OMIM:300860"}
xref: UMLS:C3275464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300860"}
is_a: MONDO:0020119 {source="DC-OMIM:300860", source="DOID:0060820", source="OMIM:300860", source="Orphanet:163956"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060820
property_value: exactMatch http://identifiers.org/omim/300860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275464
property_value: exactMatch Orphanet:163956

[Term]
id: MONDO:0010462
name: syndromic X-linked intellectual disability Chudley-Schwartz type
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23." [DOID:0060819, PMID:10398239]
synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type" EXACT [DOID:0060819, MONDO:Lexical, OMIM:300861]
synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS" RELATED [OMIM:300861]
synonym: "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED [OMIM:300861]
synonym: "MRXSCS" EXACT [DOID:0060819, MONDO:Lexical, OMIM:300861]
synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT [DOID:0060819]
xref: DOID:0060819 {source="MONDO:equivalentTo"}
xref: OMIM:300861 {source="DOID:0060819", source="MONDO:equivalentTo"}
xref: UMLS:C3275471 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300861"}
is_a: MONDO:0020119 {source="DC-OMIM:300861", source="DOID:0060819", source="OMIM:300861"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060819
property_value: exactMatch http://identifiers.org/omim/300861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275471

[Term]
id: MONDO:0010463
name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
def: "X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." [Orphanet:163966]
subset: ordo_disease {source="Orphanet:163966"}
synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863]
synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966]
xref: ICD10:Q87.8 {source="Orphanet:163966", source="ORDO:163966/attributed", source="ORDO:163966/ntbt"}
xref: OMIM:300863 {source="MONDO:equivalentTo", source="Orphanet:163966", source="ORDO:163966/e"}
xref: Orphanet:163966 {source="MONDO:equivalentTo", source="OMIM:300863"}
xref: SCTID:719837003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C3275476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300863"}
is_a: MONDO:0020119 {source="Orphanet:163966"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300863
property_value: exactMatch http://identifiers.org/snomedct/719837003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275476
property_value: exactMatch Orphanet:163966

[Term]
id: MONDO:0010464
name: X-linked cerebral-cerebellar-coloboma syndrome syndrome
def: "X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." [Orphanet:163961]
subset: ordo_disease {source="Orphanet:163961"}
synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864]
synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961]
synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961]
xref: ICD10:Q87.8 {source="ORDO:163961/attributed", source="ORDO:163961/ntbt", source="Orphanet:163961"}
xref: OMIM:300864 {source="MONDO:equivalentTo", source="ORDO:163961/e", source="Orphanet:163961"}
xref: Orphanet:163961 {source="MONDO:equivalentTo", source="OMIM:300864"}
xref: UMLS:C3275487 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300864"}
is_a: MONDO:0017118 {source="Orphanet:163961"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020119 {source="Orphanet:163961"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275487
property_value: exactMatch Orphanet:163961

[Term]
id: MONDO:0010465
name: Kabuki syndrome 2
synonym: "KABUK2" RELATED [MONDO:Lexical, OMIM:300867]
synonym: "Kabuki syndrome 2" EXACT [MONDO:Lexical, OMIM:300867]
synonym: "KABUKI syndrome 2; KABUK2" RELATED [OMIM:300867]
synonym: "Kabuki syndrome type 2" EXACT [MONDORULE:1, OMIM:300867]
xref: OMIM:300867 {source="MONDO:equivalentTo"}
xref: UMLS:C3275495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300867"}
is_a: MONDO:0016512 {source="DC-OMIM:300867", source="OMIM:300867"} ! Kabuki syndrome
property_value: exactMatch http://identifiers.org/omim/300867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275495

[Term]
id: MONDO:0010466
name: multiple congenital anomalies-hypotonia-seizures syndrome 2
def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." [MONDO:design_pattern]
subset: ordo_malformation_syndrome {source="Orphanet:300496"}
synonym: "epileptic encephalopathy, early infantile, 20" RELATED [OMIM:300868]
synonym: "glycosylphosphatidylinositol biosynthesis defect 4" RELATED [OMIM:300868]
synonym: "MCAHS type 2" EXACT [Orphanet:300496]
synonym: "MCAHS2" RELATED [MONDO:Lexical, OMIM:300868]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT [MONDO:Lexical, OMIM:300868]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2; MCAHS2" RELATED [OMIM:300868]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [DOID:0080139, MONDORULE:1, OMIM:300868]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT []
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pIgA" EXACT [MONDO:design_pattern]
synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "pIgA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern]
xref: DOID:0080139 {source="MONDO:equivalentTo"}
xref: GARD:0012777 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:300496", source="ORDO:300496/attributed", source="ORDO:300496/ntbt"}
xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="DOID:0080139", source="ORDO:300496/e"}
xref: Orphanet:300496 {source="MONDO:equivalentTo", source="OMIM:300868"}
xref: UMLS:C3275508 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300868"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:300496"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016021 {source="DC-OMIM:300868", source="OMIM:300868"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0017748 {source="Orphanet:300496"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018287 {source="MONDO:Redundant", source="Orphanet:300496"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:300496"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080139
property_value: exactMatch http://identifiers.org/omim/300868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275508
property_value: exactMatch Orphanet:300496

[Term]
id: MONDO:0010467
name: Xq27.3q28 duplication syndrome
def: "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." [Orphanet:261483]
subset: ordo_malformation_syndrome {source="Orphanet:261483"}
synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [OMIM:300869]
synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483]
synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483]
synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483]
synonym: "Xq27.3-q28 microduplication syndrome" EXACT [Orphanet:261483]
xref: ICD10:Q99.8 {source="Orphanet:261483", source="ORDO:261483/attributed", source="ORDO:261483/ntbt"}
xref: OMIM:300869 {source="ORDO:261483/e", source="Orphanet:261483", source="MONDO:equivalentTo"}
xref: Orphanet:261483 {source="MONDO:equivalentTo", source="OMIM:300869"}
xref: UMLS:C3275521 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300869"}
is_a: MONDO:0000762 {source="DC-OMIM:300869"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 {source="MONDOLEX:0010467", source="Orphanet:261483"} ! partial duplication of the long arm of chromosome X
property_value: exactMatch http://identifiers.org/omim/300869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275521
property_value: exactMatch Orphanet:261483

[Term]
id: MONDO:0010468
name: ANIB5
synonym: "aneurysm, intracranial BERRY, 5" RELATED [MONDO:Lexical, OMIM:300870]
synonym: "aneurysm, intracranial BERRY, 5; ANIB5" RELATED [OMIM:300870]
synonym: "ANIB5" EXACT [MONDO:Lexical, OMIM:300870]
xref: MESH:C563670 {source="MONDO:equivalentTo"}
xref: OMIM:300870 {source="MONDO:equivalentTo"}
xref: UMLS:C1835857 {source="OMIM:300870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016483 {source="DC-OMIM:300870", source="OMIM:300870"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C563670
property_value: exactMatch http://identifiers.org/omim/300870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835857

[Term]
id: MONDO:0010469
name: epsilon-trimethyllysine hydroxylase deficiency
subset: predisposition
synonym: "autism, susceptibility to, X-linked 6" RELATED [OMIM:300872]
synonym: "autism, susceptibility to, X-linked 6; AUTSX6" RELATED [OMIM:300872]
synonym: "AUTSX6" RELATED [OMIM:300872]
synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT [MONDO:Lexical, OMIM:300872]
synonym: "EPSILON-trimethyllysine HYDROXYLASE deficiency; TMLHED" RELATED [OMIM:300872]
synonym: "susceptibility to X-linked autism 6" RELATED [OMIM:300872]
synonym: "TMLHED" RELATED [MONDO:Lexical, OMIM:300872]
xref: OMIM:300872 {source="MONDO:equivalentTo"}
xref: UMLS:C3550875 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300872"}
is_a: MONDO:0020573 {source="OMIM:300872"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/300872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550875

[Term]
id: MONDO:0010470
name: Baratela-Scott syndrome
synonym: "Baratela-Scott syndrome" EXACT [OMIM:300881]
xref: OMIM:300881 {source="MONDO:equivalentTo"}
xref: UMLS:C3550876 {source="OMIM:300881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015426 {source="ORDO:1425/btnt"} ! Desbuquois dysplasia
property_value: exactMatch http://identifiers.org/omim/300881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550876

[Term]
id: MONDO:0010471
name: Cornelia de Lange syndrome 5
synonym: "CDLS5" RELATED [MONDO:Lexical, OMIM:300882]
synonym: "Cornelia de Lange syndrome 5" EXACT [MONDO:Lexical, OMIM:300882]
synonym: "Cornelia DE Lange syndrome 5; CDLS5" RELATED [OMIM:300882]
synonym: "Cornelia De Lange syndrome type 5" EXACT [MONDORULE:1, OMIM:300882]
xref: OMIM:300882 {source="MONDO:equivalentTo"}
xref: UMLS:C3550903 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300882"}
is_a: MONDO:0016033 {source="DC-OMIM:300882", source="OMIM:300882"} ! Cornelia de Lange syndrome
property_value: exactMatch http://identifiers.org/omim/300882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550903

[Term]
id: MONDO:0010472
name: ALG13-CDG
subset: ordo_disease {source="Orphanet:324422"}
synonym: "CDG Is" RELATED [OMIM:300884]
synonym: "CDG syndrome type Is" EXACT [Orphanet:324422]
synonym: "CDG-Is" EXACT [Orphanet:324422]
synonym: "CDG1S" EXACT [MONDO:Lexical, OMIM:300884, Orphanet:324422]
synonym: "congenital disorder of glycosylation type 1s" EXACT [Orphanet:324422]
synonym: "congenital disorder of glycosylation type Is" EXACT [Orphanet:324422]
synonym: "congenital disorder of glycosylation, type Is" RELATED [MONDO:Lexical, OMIM:300884]
synonym: "congenital disorder of glycosylation, type Is; CDG1S" RELATED [OMIM:300884]
synonym: "EIEE36" RELATED [OMIM:300884]
synonym: "epileptic encephalopathy, early infantile, 36" RELATED [OMIM:300884]
synonym: "epileptic encephalopathy, early infantile, 36; EIEE36" RELATED [OMIM:300884]
xref: GARD:0012401 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:324422", source="ORDO:324422/attributed", source="ORDO:324422/ntbt"}
xref: OMIM:300884 {source="Orphanet:324422", source="MONDO:equivalentTo", source="ORDO:324422/nd"}
xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"}
xref: SCTID:733451007 {source="MONDO:equivalentTo"}
xref: UMLS:C3550904 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300884"}
is_a: MONDO:0005500 {source="DC-OMIM:300884", source="MONDOLEX:0010472"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation
is_a: MONDO:0018287 {source="Orphanet:324422"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:324422"} ! congenital disorder of glycosylation with hepatic involvement
property_value: exactMatch http://identifiers.org/omim/300884
property_value: exactMatch http://identifiers.org/snomedct/733451007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550904
property_value: exactMatch Orphanet:324422

[Term]
id: MONDO:0010473
name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28." [DOID:0060828, PMID:22814392]
subset: ordo_disease {source="Orphanet:324410"}
synonym: "mental retardation, X-linked, syndromic 32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886]
synonym: "mental retardation, X-linked, syndromic 32; MRXS32" RELATED [OMIM:300886]
synonym: "mental retardation, X-linked, syndromic type 32" EXACT [MONDORULE:2, OMIM:300886]
synonym: "MRXS32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886]
xref: DOID:0060828 {source="MONDO:equivalentTo"}
xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="DOID:0060828", source="ORDO:324410/e"}
xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"}
xref: UMLS:C3550913 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300886"}
is_a: MONDO:0015110 {source="Orphanet:324410"} ! genetic cardiac rhythm disease
is_a: MONDO:0020119 {source="DC-OMIM:300886", source="DOID:0060828", source="OMIM:300886", source="Orphanet:324410"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060828
property_value: exactMatch http://identifiers.org/omim/300886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550913
property_value: exactMatch Orphanet:324410

[Term]
id: MONDO:0010474
name: linear skin defects with multiple congenital anomalies 2
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [OMIM:300887]
synonym: "COX7B microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [MONDO:Lexical, OMIM:300887]
synonym: "linear skin defects with multiple congenital anomalies 2; LSDMCA2" RELATED [OMIM:300887]
synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [MONDORULE:1, OMIM:300887]
synonym: "LSDMCA2" RELATED [MONDO:Lexical, OMIM:300887]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" EXACT [MONDO:design_pattern]
xref: OMIM:300887 {source="MONDO:equivalentTo"}
xref: UMLS:C3550921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300887"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="MONDOLEX:0010474", source="OMIM:300887", source="ORDO:2556/btnt"} ! microphthalmia with linear skin defects syndrome
property_value: exactMatch http://identifiers.org/omim/300887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550921

[Term]
id: MONDO:0010475
name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
def: "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." [NCIT:C130989]
subset: ordo_disease {source="Orphanet:329235"}
synonym: "central hypothyroidism and testicular enlargement" EXACT [DOID:0111140]
synonym: "CHTE" EXACT [DOID:0111140, MONDO:Lexical, OMIM:300888]
synonym: "hypothyroidism Central and testicular enlargement" EXACT [NCIT:C130989]
synonym: "hypothyroidism, central, and testicular enlargement" RELATED [MONDO:Lexical, OMIM:300888]
synonym: "hypothyroidism, central, and testicular enlargement; CHTE" RELATED [OMIM:300888]
synonym: "IGSF1 deficiency syndrome" EXACT [Orphanet:329235]
synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C130989]
synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235]
synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140]
xref: DOID:0111140 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="ORDO:329235/attributed", source="ORDO:329235/ntbt", source="DOID:0111140", source="Orphanet:329235"}
xref: NCIT:C130989 {source="MONDO:equivalentTo"}
xref: OMIM:300888 {source="DOID:0111140", source="MONDO:equivalentTo", source="ORDO:329235/e", source="Orphanet:329235"}
xref: Orphanet:329235 {source="DOID:0111140", source="MONDO:equivalentTo", source="OMIM:300888"}
xref: UMLS:C3550963 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300888"}
is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease
is_a: MONDO:0015778 ! syndromic hypothyroidism
is_a: MONDO:0016410 {source="Orphanet:329235"} ! central congenital hypothyroidism
property_value: exactMatch DOID:0111140
property_value: exactMatch http://identifiers.org/omim/300888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550963
property_value: exactMatch NCIT:C130989
property_value: exactMatch Orphanet:329235

[Term]
id: MONDO:0010476
name: neurodegeneration with brain iron accumulation 5
def: "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." [Orphanet:329284]
subset: ordo_disease {source="Orphanet:329284"}
synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, OMIM:300894]
synonym: "BPAN" EXACT [DOID:0110739, Orphanet:329284]
synonym: "NBIA5" EXACT [DOID:0110739, MONDO:Lexical, OMIM:300894, Orphanet:329284]
synonym: "neurodegeneration with brain iron accululation 5" RELATED [GARD:0012570]
synonym: "neurodegeneration with brain iron accumulation 5" EXACT [MONDO:Lexical, OMIM:300894]
synonym: "neurodegeneration with brain iron accumulation 5; NBIA5" RELATED [OMIM:300894]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in WDR45" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [DOID:0110739, MONDORULE:1, OMIM:300894, Orphanet:329284]
synonym: "SENDA" EXACT [DOID:0110739, Orphanet:329284]
synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [Orphanet:329284]
synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739]
synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [OMIM:300894]
synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110739 {source="MONDO:equivalentTo"}
xref: GARD:0012570 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="ORDO:329284/attributed", source="ORDO:329284/ntbt", source="Orphanet:329284", source="DOID:0110739"}
xref: OMIM:300894 {source="ORDO:329284/e", source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739"}
xref: Orphanet:329284 {source="MONDO:equivalentTo", source="OMIM:300894", source="DOID:0110739"}
xref: SCTID:732959007 {source="MONDO:equivalentTo"}
xref: UMLS:C3550973 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300894"}
xref: UMLS:CN168656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018307 {source="DC-OMIM:300894", source="DOID:0110739", source="MONDO:Redundant", source="OMIM:300894", source="Orphanet:329284"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch DOID:0110739
property_value: exactMatch http://identifiers.org/omim/300894
property_value: exactMatch http://identifiers.org/snomedct/732959007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3550973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN168656
property_value: exactMatch Orphanet:329284

[Term]
id: MONDO:0010477
name: blepharophimosis - intellectual disability syndrome, MKB type
def: "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." [https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type]
subset: ordo_malformation_syndrome {source="Orphanet:293707"}
synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [Orphanet:293707]
synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED [OMIM:300895]
synonym: "BMRS, Maat-Kievit-Brunner type" EXACT [Orphanet:293707]
synonym: "BMRS, MKB type" EXACT [Orphanet:293707]
synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:300895]
synonym: "Ohdo syndrome, X-linked; OHDOX" RELATED [OMIM:300895]
synonym: "OHDOX" RELATED [MONDO:Lexical, OMIM:300895]
synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:300895 {source="ORDO:293707/e", source="Orphanet:293707", source="MONDO:equivalentTo"}
xref: Orphanet:293707 {source="MONDO:equivalentTo", source="OMIM:300895"}
xref: SCTID:699297004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.07"}
xref: UMLS:C3698541 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300895"}
is_a: MONDO:0000734 {source="DC-OMIM:300895"} ! Ohdo syndrome and variants
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0100000 ! MED12-related intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/300895
property_value: exactMatch http://identifiers.org/snomedct/699297004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3698541
property_value: exactMatch Orphanet:293707

[Term]
id: MONDO:0010478
name: SLC35A2-CDG
def: "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." [Orphanet:356961]
subset: gard_rare {source="GARD:0012403"}
subset: ordo_disease {source="Orphanet:356961"}
subset: ordo_inheritance_inconsistent
synonym: "CDG IIm" RELATED [OMIM:300896]
synonym: "CDG syndrome type IIm" EXACT [Orphanet:356961]
synonym: "CDG-IIm" EXACT [Orphanet:356961]
synonym: "CDG2M" EXACT [MONDO:Lexical, OMIM:300896, Orphanet:356961]
synonym: "congenital disorder of glycosylation type 2m" EXACT [Orphanet:356961]
synonym: "congenital disorder of glycosylation type IIm" EXACT [Orphanet:356961]
synonym: "congenital disorder of glycosylation, type IIm" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896]
synonym: "congenital disorder of glycosylation, type IIm; CDG2M" RELATED [OMIM:300896]
synonym: "EIEE22" RELATED [GARD:0012403, MONDO:Lexical]
synonym: "epileptic encephalopathy, early infantile, 22" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896]
synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0012403]
xref: DOID:0070265 {source="MONDO:equivalentTo"}
xref: GARD:0012403 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="Orphanet:356961", source="ORDO:356961/attributed", source="ORDO:356961/ntbt"}
xref: OMIM:300896 {source="ORDO:356961/e", source="Orphanet:356961", source="MONDO:equivalentTo"}
xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"}
xref: UMLS:C3806688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300896"}
is_a: MONDO:0005501 {source="DC-OMIM:300896", source="MONDOLEX:0010478", source="OMIM:300896"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017120 {source="Orphanet:356961"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0017749 {source="Orphanet:356961"} ! disorder of multiple glycosylation
is_a: MONDO:0018287 {source="MONDO:Redundant", source="Orphanet:356961"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:356961"} ! congenital disorder of glycosylation with developmental anomaly
property_value: exactMatch DOID:0070265
property_value: exactMatch http://identifiers.org/omim/300896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806688
property_value: exactMatch Orphanet:356961
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg xsd:anyURI {source="GARD:0012403"}

[Term]
id: MONDO:0010479
name: Charcot-Marie-Tooth disease X-linked dominant 6
def: "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." [Orphanet:352675]
comment: Editor note: check CMT6X synonym, this implies it is a subtype of CMT6
subset: ordo_disease {source="Orphanet:352675"}
synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [DOID:0110207, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical, OMIM:300905]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6; CMTX6" RELATED [OMIM:300905]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 6" EXACT [MONDORULE:1, OMIM:300905]
synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 6" EXACT [DOID:0110207]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6" RELATED [OMIM:300905]
synonym: "CMT6X" RELATED [DOID:0110207, Orphanet:352675]
synonym: "CMTX6" EXACT [DOID:0110207, MONDO:Lexical, OMIM:300905, Orphanet:352675]
synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207]
xref: DOID:0110207 {source="MONDO:equivalentTo"}
xref: GARD:0012445 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="DOID:0110207", source="ORDO:352675/attributed", source="ORDO:352675/ntbt", source="Orphanet:352675"}
xref: OMIM:300905 {source="ORDO:352675/e", source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675"}
xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"}
xref: SCTID:763347000 {source="MONDO:equivalentTo"}
xref: UMLS:C3806702 {source="OMIM:300905", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018994 {source="DOID:0110207", source="MONDOLEX:0010479", source="Orphanet:352675"} ! Charcot-Marie-Tooth disease type X
property_value: exactMatch DOID:0110207
property_value: exactMatch http://identifiers.org/omim/300905
property_value: exactMatch http://identifiers.org/snomedct/763347000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806702
property_value: exactMatch Orphanet:352675

[Term]
id: MONDO:0010480
name: anemia, nonspherocytic hemolytic, due to G6PD deficiency
synonym: "anemia, nonspherocytic hemolytic, due to G6PD deficiency" EXACT [OMIM:300908]
xref: MESH:C567533 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300908 {source="MONDO:equivalentTo"}
xref: UMLS:C2720289 {source="OMIM:300908", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000105 {source="DC-OMIM:300908"} ! anemia, nonspherocytic hemolytic
property_value: closeMatch Orphanet:362
property_value: exactMatch http://identifiers.org/mesh/C567533
property_value: exactMatch http://identifiers.org/omim/300908
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2720289

[Term]
id: MONDO:0010481
name: angioedema
def: "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." [MESH:D000799]
synonym: "angioedemas" EXACT [MESH:D000799]
synonym: "angioneurotic edema" EXACT [MESH:D000799]
synonym: "angioneurotic edema" NARROW [DOID:1558]
synonym: "angioneurotic Edemas" EXACT [MESH:D000799]
synonym: "angioneurotic oedema" RELATED [DOID:1558]
synonym: "edema, angioneurotic" EXACT [MESH:D000799]
synonym: "edema, Quincke's" EXACT [MESH:D000799]
synonym: "Edemas, angioneurotic" EXACT [MESH:D000799]
synonym: "giant urticaria" EXACT [CSP2005:1849-1576, DOID:1558, MESH:D000799]
synonym: "giant Urticarias" EXACT [MESH:D000799]
synonym: "Quincke edema" EXACT [MESH:D000799]
synonym: "Quincke's edema" EXACT [DOID:1558, MESH:D000799]
synonym: "Quinckes edema" EXACT [MESH:D000799]
synonym: "urticaria, giant" EXACT [MESH:D000799]
synonym: "Urticarias, giant" EXACT [MESH:D000799]
xref: COHD:432791 {source="MONDO:equivalentTo"}
xref: CSP:2716-7007 {source="DOID:1558"}
xref: DOID:1558 {source="EFO:0005532", source="MONDO:equivalentTo"}
xref: EFO:0005532 {source="MONDO:equivalentTo"}
xref: HP:0100665 {source="MONDO:otherHierarchy"}
xref: ICD10:T78.3 {source="DOID:1558"}
xref: ICD9:995.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000799 {source="EFO:0005532", source="MONDO:equivalentTo", source="DOID:1558"}
xref: SCTID:400075008 {source="MONDO:kboom-pr-0.73/0.44/0.08", source="MONDO:equivalentTo", source="DOID:1558"}
is_a: MONDO:0005492 {source="MESH:D000799", source="MONDO:Redundant", source="linkedlifedata"} ! urticaria (disease)
is_a: MONDO:0019293 {source="MESH:D000799/inferred", source="OWLReasoner:2017"} ! skin vascular disease
property_value: closeMatch http://identifiers.org/snomedct/157756002
property_value: closeMatch http://identifiers.org/snomedct/269433002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002994
property_value: exactMatch DOID:1558
property_value: exactMatch http://identifiers.org/mesh/D000799
property_value: exactMatch http://identifiers.org/snomedct/400075008
property_value: exactMatch NCIT:C112175

[Term]
id: MONDO:0010482
name: X-linked parkinsonism-spasticity syndrome
def: "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." [Orphanet:363654]
subset: ordo_disease {source="Orphanet:363654"}
synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911]
synonym: "PARKINSONISM with spasticity, X-linked; XPDS" RELATED [OMIM:300911]
synonym: "XPDS" EXACT [MONDO:Lexical, OMIM:300911, Orphanet:363654]
xref: ICD10:G20 {source="ORDO:363654/attributed", source="ORDO:363654/ntbt", source="Orphanet:363654"}
xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="ORDO:363654/e"}
xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"}
xref: UMLS:C3806722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300911"}
is_a: MONDO:0017661 {source="Orphanet:363654"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder
property_value: exactMatch http://identifiers.org/omim/300911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806722
property_value: exactMatch Orphanet:363654

[Term]
id: MONDO:0010483
name: X-linked intellectual disability, Cantagrel type
def: "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." [Orphanet:85277]
subset: ordo_malformation_syndrome {source="Orphanet:85277"}
synonym: "mental retardation, X-linked 98" RELATED [MONDO:Lexical, OMIM:300912]
synonym: "mental retardation, X-linked 98; MRX98" RELATED [OMIM:300912]
synonym: "mental retardation, X-linked type 98" EXACT [MONDORULE:2, OMIM:300912]
synonym: "MRX98" RELATED [MONDO:Lexical, OMIM:300912]
xref: ICD10:Q87.8 {source="Orphanet:85277", source="ORDO:85277/attributed", source="ORDO:85277/ntbt"}
xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="ORDO:85277/e"}
xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"}
xref: SCTID:719016007 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C3806730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300912"}
is_a: MONDO:0020119 {source="Orphanet:85277"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300912
property_value: exactMatch http://identifiers.org/snomedct/719016007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806730
property_value: exactMatch Orphanet:85277

[Term]
id: MONDO:0010484
name: deafness, X-linked 6
def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "COL4A6 X-linked nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, X-linked 6" EXACT [MONDO:Lexical, OMIM:300914]
synonym: "deafness, X-linked 6; DFNX6" RELATED [OMIM:300914]
synonym: "deafness, X-linked type 6" EXACT [MONDORULE:1, OMIM:300914]
synonym: "DFNX6" RELATED [MONDO:Lexical, OMIM:300914]
synonym: "X-linked nonsyndromic deafness caused by mutation in COL4A6" EXACT [MONDO:design_pattern]
xref: OMIM:300914 {source="MONDO:equivalentTo"}
xref: UMLS:C3806737 {source="OMIM:300914", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019586 {source="DC-OMIM:300914", source="MONDO:Redundant", source="OMIM:300914"} ! X-linked nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/300914
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806737

[Term]
id: MONDO:0010485
name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
def: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." [Orphanet:431140]
subset: ordo_malformation_syndrome {source="Orphanet:431140"}
synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" RELATED [OMIM:300915]
synonym: "Maine microphthalmos" RELATED [OMIM:300915]
synonym: "MCOPS13" RELATED [MONDO:Lexical, OMIM:300915]
synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical, OMIM:300915]
synonym: "microphthalmia, syndromic 13; MCOPS13" RELATED [OMIM:300915]
synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2, OMIM:300915]
synonym: "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" EXACT [Orphanet:431140]
xref: ICD10:Q87.0 {source="Orphanet:431140", source="ORDO:431140/attributed", source="ORDO:431140/ntbt"}
xref: OMIM:300915 {source="MONDO:equivalentTo", source="Orphanet:431140", source="ORDO:431140/e"}
xref: Orphanet:431140 {source="OMIM:300915", source="MONDO:equivalentTo"}
xref: UMLS:C3806742 {source="OMIM:300915", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0015159 {source="Orphanet:431140"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:431140"} ! malformation syndrome with short stature
is_a: MONDO:0016073 {source="DC-OMIM:300915", source="MONDOLEX:0010485", source="OMIM:300915", source="Orphanet:431140"} ! syndromic microphthalmia
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/300915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806742
property_value: exactMatch Orphanet:431140

[Term]
id: MONDO:0010486
name: palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
synonym: "Olmsted syndrome, X-linked" RELATED [OMIM:300918]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" EXACT [OMIM:300918]
xref: OMIM:300918 {source="MONDO:equivalentTo"}
xref: UMLS:C3806745 {source="NCBI:mim2gene_medline", source="OMIM:300918", source="MONDO:equivalentTo"}
is_a: MONDO:0019014 {source="ORDO:659/btnt"} ! mutilating palmoplantar keratoderma with periorificial keratotic plaques
property_value: exactMatch http://identifiers.org/omim/300918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806745

[Term]
id: MONDO:0010487
name: intellectual disability, X-linked 99
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 99" RELATED [MONDO:Lexical, OMIM:300919]
synonym: "mental retardation, X-linked 99; MRX99" RELATED [OMIM:300919]
synonym: "mental retardation, X-linked type 99" EXACT [MONDORULE:2, OMIM:300919]
synonym: "MRX99" RELATED [MONDO:Lexical, OMIM:300919]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern]
synonym: "USP9X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300919 {source="MONDO:equivalentTo"}
xref: UMLS:C3806746 {source="OMIM:300919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300919", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806746

[Term]
id: MONDO:0010488
name: intellectual disability, X-linked 100
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KIF4A non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 100" RELATED [MONDO:Lexical, OMIM:300923]
synonym: "mental retardation, X-linked 100; MRX100" RELATED [OMIM:300923]
synonym: "mental retardation, X-linked type 100" EXACT [MONDORULE:2, OMIM:300923]
synonym: "MRX100" RELATED [MONDO:Lexical, OMIM:300923]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in KIF4A" EXACT [MONDO:design_pattern]
xref: OMIM:300923 {source="MONDO:equivalentTo"}
xref: UMLS:C3890167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300923", source="MONDO:Redundant", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890167

[Term]
id: MONDO:0010489
name: intellectual disability, X-linked 101
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 101" RELATED [MONDO:Lexical, OMIM:300928]
synonym: "mental retardation, X-linked 101; MRX101" RELATED [OMIM:300928]
synonym: "mental retardation, X-linked type 101" EXACT [MONDORULE:2, OMIM:300928]
synonym: "MID2 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MRX101" RELATED [MONDO:Lexical, OMIM:300928]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in MID2" EXACT [MONDO:design_pattern]
xref: OMIM:300928 {source="MONDO:equivalentTo"}
xref: UMLS:C3890168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300928", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890168

[Term]
id: MONDO:0010490
name: SSR4-CDG
def: "(Xq28)." [Orphanet:370927]
subset: ordo_disease {source="Orphanet:370927"}
synonym: "carbohydrate deficient glycoprotein syndrome type Iy" EXACT [Orphanet:370927]
synonym: "CDG 1Y" RELATED [OMIM:300934]
synonym: "CDG Iy" RELATED [GARD:0012405]
synonym: "CDG syndrome type Iy" EXACT [Orphanet:370927]
synonym: "CDG-Iy" EXACT [Orphanet:370927]
synonym: "CDG1Y" EXACT [MONDO:Lexical, OMIM:300934, Orphanet:370927]
synonym: "CDGIy" RELATED [GARD:0012405]
synonym: "congenital disorder of glycosylation type 1y" EXACT [Orphanet:370927]
synonym: "congenital disorder of glycosylation type Iy" EXACT [Orphanet:370927]
synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical, OMIM:300934]
synonym: "congenital disorder of glycosylation, type Iy; CDG1Y" RELATED [OMIM:300934]
xref: DOID:0070257 {source="MONDO:equivalentTo"}
xref: GARD:0012405 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:370927", source="ORDO:370927/attributed", source="ORDO:370927/ntbt"}
xref: OMIM:300934 {source="ORDO:370927/e", source="Orphanet:370927", source="MONDO:equivalentTo"}
xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"}
xref: SCTID:733115009 {source="MONDO:equivalentTo"}
xref: UMLS:C4012395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005500 {source="DC-OMIM:300934", source="MONDOLEX:0010490"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015159 {source="Orphanet:370927"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017740 {source="Orphanet:370927"} ! disorder of protein N-glycosylation
is_a: MONDO:0018287 {source="Orphanet:370927"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0070257
property_value: exactMatch http://identifiers.org/omim/300934
property_value: exactMatch http://identifiers.org/snomedct/733115009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012395
property_value: exactMatch Orphanet:370927

[Term]
id: MONDO:0010491
name: X-linked acrogigantism due to Xq26 microduplication
subset: ordo_etiological_subtype {source="Orphanet:448372"}
synonym: "chromosome Xq26 microduplication syndrome" RELATED [OMIM:300942]
synonym: "chromosome Xq26.3 DUPLICATION syndrome" RELATED [OMIM:300942]
synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [Orphanet:448372]
synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [Orphanet:448372]
synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [Orphanet:448372]
synonym: "X-linked acrogigantism" RELATED [OMIM:300942]
xref: ICD10:E22.0 {source="ORDO:448372/attributed", source="ORDO:448372/ntbt", source="Orphanet:448372"}
xref: OMIM:300942 {source="MONDO:equivalentTo", source="ORDO:448372/e", source="Orphanet:448372"}
xref: Orphanet:448372 {source="MONDO:equivalentTo"}
xref: SCTID:768472004 {source="MONDO:equivalentTo"}
xref: UMLS:C3891556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN237731 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0000762 {source="DC-OMIM:300942"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017009 {source="Orphanet:448372"} ! partial duplication of the short arm of chromosome X
is_a: MONDO:0017581 {source="Orphanet:448372"} ! familial infantile gigantism
property_value: exactMatch http://identifiers.org/omim/300942
property_value: exactMatch http://identifiers.org/snomedct/768472004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3891556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237731
property_value: exactMatch Orphanet:448372

[Term]
id: MONDO:0010492
name: pituitary adenoma, growth hormone-secreting, 2
def: "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acromegaly due to pituitary adenoma 2" RELATED [OMIM:300943]
synonym: "acromegaly, X-linked" RELATED [OMIM:300943]
synonym: "GPR101 pituitary gland adenoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PAGH2" RELATED [MONDO:Lexical, OMIM:300943]
synonym: "PITA2" RELATED [OMIM:300943]
synonym: "pituitary adenoma 2, Growth hormone-secreting" RELATED [OMIM:300943]
synonym: "pituitary adenoma 2, growth hormone-secreting; PITA2" RELATED [OMIM:300943]
synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical, OMIM:300943]
synonym: "pituitary adenoma, growth hormone-secreting, 2; PAGH2" RELATED [OMIM:300943]
synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1, OMIM:300943]
synonym: "pituitary gland adenoma caused by mutation in GPR101" EXACT [MONDO:design_pattern]
xref: OMIM:300943 {source="MONDO:equivalentTo"}
xref: UMLS:C4012409 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019933 {source="ORDO:963/btnt"} ! acromegaly
property_value: exactMatch http://identifiers.org/omim/300943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012409

[Term]
id: MONDO:0010493
name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA14" RELATED [MONDO:Lexical, OMIM:300946]
synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:300946]
synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; DBA14" RELATED [OMIM:300946]
synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:design_pattern]
synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300946 {source="MONDO:equivalentTo"}
xref: UMLS:C4225422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:300946", source="MONDO:Redundant", source="MONDOLEX:0010493", source="OMIM:300946"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/300946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225422

[Term]
id: MONDO:0010494
name: linear skin defects with multiple congenital anomalies 3
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "linear skin defects with cardiomyopathy and Other congenital anomalies" RELATED [OMIM:300952]
synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [MONDO:Lexical, OMIM:300952]
synonym: "linear skin defects with multiple congenital anomalies 3; LSDMCA3" RELATED [OMIM:300952]
synonym: "linear skin defects with multiple congenital anomalies type 3" EXACT [MONDORULE:1, OMIM:300952]
synonym: "LSDMCA3" RELATED [MONDO:Lexical, OMIM:300952]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" EXACT [MONDO:design_pattern]
synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300952 {source="MONDO:equivalentTo"}
xref: UMLS:C4225421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="MONDOLEX:0010494", source="OMIM:300952", source="ORDO:2556/btnt"} ! microphthalmia with linear skin defects syndrome
property_value: exactMatch http://identifiers.org/omim/300952
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225421

[Term]
id: MONDO:0010495
name: trichothiodystrophy 5, nonphotosensitive
def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" EXACT [MONDO:design_pattern]
synonym: "RNF113A nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "trichothiodystrophy 5, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:300953]
synonym: "trichothiodystrophy 5, nonphotosensitive; TTD5" RELATED [OMIM:300953]
synonym: "TTD5" RELATED [MONDO:Lexical, OMIM:300953]
xref: OMIM:300953 {source="MONDO:equivalentTo"}
xref: UMLS:C4225420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009317 {source="MONDO:Redundant"} ! nonphotosensitive trichothiodystrophy
property_value: exactMatch http://identifiers.org/omim/300953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225420

[Term]
id: MONDO:0010496
name: X-linked intellectual disability-short stature-overweight syndrome
def: "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted." [Orphanet:457240]
subset: ordo_malformation_syndrome {source="Orphanet:457240"}
synonym: "mental retardation, X-linked 12" RELATED [MONDO:Lexical, OMIM:300957]
synonym: "mental retardation, X-linked 12; MRX12" RELATED [OMIM:300957]
synonym: "mental retardation, X-linked 35" RELATED [OMIM:300957]
synonym: "mental retardation, X-linked type 12" EXACT [MONDORULE:2, OMIM:300957]
synonym: "MRX12" RELATED [MONDO:Lexical, OMIM:300957]
xref: OMIM:300957 {source="MONDO:equivalentTo", source="ORDO:457240/e", source="Orphanet:457240"}
xref: Orphanet:457240 {source="MONDO:equivalentTo"}
xref: UMLS:C0796218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:457240"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:457240"} ! malformation syndrome with short stature
is_a: MONDO:0020119 {source="Orphanet:457240"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/300957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796218
property_value: exactMatch Orphanet:457240

[Term]
id: MONDO:0010497
name: intellectual disability, X-linked 102
def: "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." [NCIT:C129931]
synonym: "DDX3X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DDX3X-related intellectual disability" RELATED [GARD:0012715]
synonym: "mental retardation, X-linked 102" RELATED [MONDO:Lexical, OMIM:300958]
synonym: "mental retardation, X-linked 102; MRX102" RELATED [OMIM:300958]
synonym: "mental retardation, X-linked type 102" EXACT [MONDORULE:2, OMIM:300958]
synonym: "MRX102" RELATED [MONDO:Lexical, OMIM:300958]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" EXACT [MONDO:design_pattern]
xref: GARD:0012715 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C129931 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:300958 {source="MONDO:equivalentTo"}
xref: UMLS:C4085582 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300958", source="MONDO:Redundant", source="OMIM:300958"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085582
property_value: exactMatch NCIT:C129931

[Term]
id: MONDO:0010498
name: MEND syndrome
subset: ordo_malformation_syndrome {source="Orphanet:401973"}
synonym: "Male EBP disorder with neurologic defects" RELATED [OMIM:300960]
synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973]
synonym: "MEND" RELATED [MONDO:Lexical, OMIM:300960]
synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960]
synonym: "MEND syndrome; MEND" RELATED [OMIM:300960]
xref: ICD10:Q87.8 {source="Orphanet:401973", source="ORDO:401973/attributed", source="ORDO:401973/ntbt"}
xref: OMIM:300960 {source="ORDO:401973/e", source="Orphanet:401973", source="MONDO:equivalentTo"}
xref: Orphanet:401973 {source="MONDO:equivalentTo", source="OMIM:300960"}
xref: UMLS:C4085243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:401973"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019240 {source="Orphanet:401973"} ! sterol biosynthesis disorder
property_value: exactMatch http://identifiers.org/omim/300960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085243
property_value: exactMatch Orphanet:401973

[Term]
id: MONDO:0010499
name: Ritscher-Schinzel syndrome 2
def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC22 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ritscher-Schinzel syndrome 2" EXACT [OMIM:300963]
synonym: "Ritscher-Schinzel syndrome 2; RTSC2" RELATED [OMIM:300963]
synonym: "Ritscher-Schinzel syndrome caused by mutation in CCDC22" EXACT [MONDO:design_pattern]
synonym: "Ritscher-Schinzel syndrome type 2" EXACT [DOID:0060572, MONDORULE:1, OMIM:300963]
synonym: "RTSC2" EXACT [OMIM:300963]
xref: DOID:0060572 {source="MONDO:equivalentTo"}
xref: OMIM:300963 {source="DOID:0060572", source="MONDO:equivalentTo"}
xref: UMLS:C4225419 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019078 {source="DC-OMIM:300963", source="DOID:0060572", source="MONDO:Redundant", source="OMIM:300963"} ! Ritscher-Schinzel syndrome
property_value: exactMatch DOID:0060572
property_value: exactMatch http://identifiers.org/omim/300963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225419

[Term]
id: MONDO:0010500
name: intellectual disability, X-linked, syndromic 33
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked, syndromic 33" EXACT [OMIM:300966]
synonym: "mental retardation, X-linked, syndromic 33; MRXS33" RELATED [OMIM:300966]
synonym: "mental retardation, X-linked, syndromic type 33" EXACT [MONDORULE:2, OMIM:300966]
synonym: "MRXS33" EXACT [OMIM:300966]
synonym: "TAF1 X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in TAF1" EXACT [MONDO:design_pattern]
xref: OMIM:300966 {source="MONDO:equivalentTo"}
xref: UMLS:C4225418 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:300966", source="MONDO:Redundant", source="OMIM:300966"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300966
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225418

[Term]
id: MONDO:0010501
name: syndromic X-linked intellectual disability 34
def: "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." [Orphanet:466791]
subset: ordo_malformation_syndrome {source="Orphanet:466791"}
synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [DOID:0060817, ORDO:466791]
synonym: "mental retardation, X-linked, syndromic 34" EXACT [DOID:0060817, OMIM:300967]
synonym: "mental retardation, X-linked, syndromic 34; MRXS34" RELATED [OMIM:300967]
synonym: "mental retardation, X-linked, syndromic type 34" EXACT [MONDORULE:2, OMIM:300967]
synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED [OMIM:300967]
synonym: "MRXS34" EXACT [DOID:0060817, OMIM:300967]
synonym: "MRXSML" EXACT [DOID:0060817]
synonym: "NONO X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "syndromic X-linked intellectual disability type 34" EXACT [DOID:0060817, MONDORULE:2]
synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT [DOID:0060817]
synonym: "X-linked syndromic intellectual disability caused by mutation in NONO" EXACT [MONDO:design_pattern]
xref: DOID:0060817 {source="MONDO:equivalentTo"}
xref: OMIM:300967 {source="MONDO:equivalentTo", source="Orphanet:466791", source="DOID:0060817"}
xref: Orphanet:466791 {source="MONDO:equivalentTo", source="DOID:0060817"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:466791"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300967", source="DOID:0060817", source="MONDO:Redundant", source="OMIM:300967", source="Orphanet:466791"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225417
property_value: exactMatch DOID:0060817
property_value: exactMatch http://identifiers.org/omim/300967
property_value: exactMatch Orphanet:466791

[Term]
id: MONDO:0010502
name: intellectual disability, X-linked 99, syndromic, female-restricted
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." [MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F" EXACT [MONDOLEX:0010502]
synonym: "mental retardation, X-linked 99, syndromic, female-restricted" EXACT [OMIM:300968]
synonym: "mental retardation, X-linked 99, syndromic, female-restricted; MRXS99F" RELATED [OMIM:300968]
synonym: "MRXS99F" EXACT ABBREVIATION [MONDOLEX:0010502, OMIM:300968]
synonym: "USP9X X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern]
xref: OMIM:300968 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:300968", source="MONDO:Redundant"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225416
property_value: exactMatch http://identifiers.org/omim/300968

[Term]
id: MONDO:0010503
name: Bartter disease type 5
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BARTS5" EXACT [DOID:0110147, OMIM:300971]
synonym: "Bartter syndrome caused by mutation in MAGED2" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [DOID:0110147, OMIM:300971]
synonym: "Bartter syndrome, type 5, antenatal, transient; BARTS5" RELATED [OMIM:300971]
synonym: "MAGED2 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110147 {source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="DOID:0110147"}
xref: OMIM:300971 {source="MONDO:equivalentTo", source="DOID:0110147"}
xref: UMLS:C4310820 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="MONDOLEX:0010503", source="OMIM:300971"} ! Bartter syndrome
property_value: exactMatch DOID:0110147
property_value: exactMatch http://identifiers.org/omim/300971
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310820

[Term]
id: MONDO:0010504
name: immunodeficiency 47
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP6AP1 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD47" EXACT ABBREVIATION [MONDOLEX:0010504, OMIM:300972]
synonym: "immunodeficiency 47" EXACT [OMIM:300972]
synonym: "immunodeficiency 47; IMD47" EXACT [MONDOLEX:0010504]
synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [OMIM:300972]
synonym: "immunodeficiency type 47" EXACT [MONDORULE:2, OMIM:300972]
synonym: "primary immunodeficiency disease caused by mutation in ATP6AP1" EXACT [MONDO:design_pattern]
xref: OMIM:300972 {source="MONDO:equivalentTo"}
xref: UMLS:C4310819 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:300972", source="MONDO:Redundant"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/300972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310819

[Term]
id: MONDO:0010505
name: intellectual disability-balding-patella luxation-acromicria syndrome
def: "Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." [Orphanet:3041]
subset: ordo_malformation_syndrome {source="Orphanet:3041"}
synonym: "early balding, patella luxation, acromicria and hypogonadism" RELATED [GARD:0000257]
synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [OMIM:300977]
synonym: "moved to 300977" RELATED [OMIM:181515]
synonym: "Scholte syndrome" EXACT [OMIM:300977]
synonym: "SCHOLTE syndrome; SHLTS" RELATED [OMIM:300977]
synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041]
synonym: "SHLTS" EXACT [OMIM:300977]
xref: GARD:0000257 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3041/attributed", source="ORDO:3041/ntbt", source="Orphanet:3041"}
xref: MESH:C536638 {source="MONDO:equivalentTo"}
xref: OMIM:181515 {source="MONDO:equivalentTo", source="MONDO:Obsolete"}
xref: OMIM:300977 {source="MONDO:equivalentTo", source="ORDO:3041/e", source="Orphanet:3041"}
xref: Orphanet:3041 {source="MONDO:equivalentTo"}
xref: SCTID:722002002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1866985 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3041/e", source="Orphanet:3041"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3041", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3041"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019695 {source="Orphanet:3041"} ! acromelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C536638
property_value: exactMatch http://identifiers.org/omim/181515
property_value: exactMatch http://identifiers.org/omim/300977
property_value: exactMatch http://identifiers.org/snomedct/722002002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866985
property_value: exactMatch Orphanet:3041

[Term]
id: MONDO:0010506
name: intellectual disability, X-linked 61
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 61; MRX61" EXACT [MONDOLEX:0010506]
synonym: "mental retardation, X-linked 61" EXACT [OMIM:300978]
synonym: "mental retardation, X-linked 61; MRX61" RELATED [OMIM:300978]
synonym: "mental retardation, X-linked type 61" EXACT [MONDORULE:2, OMIM:300978]
synonym: "MRX61" EXACT ABBREVIATION [MONDOLEX:0010506, OMIM:300978]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in RLIM" EXACT [MONDO:design_pattern]
synonym: "RLIM non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300978 {source="MONDO:equivalentTo"}
xref: UMLS:C4283894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300978", source="MONDO:Redundant", source="OMIM:300978"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300978
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4283894

[Term]
id: MONDO:0010507
name: Xq25 microduplication syndrome
subset: ordo_malformation_syndrome
synonym: "Xq25 triplication syndrome" RELATED [OMIM:300979]
xref: OMIM:300979 {source="Orphanet:521258", source="MONDO:equivalentTo"}
xref: Orphanet:521258 {source="MONDO:equivalentTo"}
xref: UMLS:C4311049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DC-OMIM:300979"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:521258"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017010 {source="Orphanet:521258"} ! partial duplication of the long arm of chromosome X
is_a: MONDO:0020119 {source="Orphanet:521258"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/300979
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4311049
property_value: exactMatch Orphanet:521258

[Term]
id: MONDO:0010508
name: intellectual disability, X-linked 103
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 103; MRX103" EXACT [MONDOLEX:0010508]
synonym: "KLHL15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 103" EXACT [OMIM:300982]
synonym: "mental retardation, X-linked 103; MRX103" RELATED [OMIM:300982]
synonym: "mental retardation, X-linked type 103" EXACT [MONDORULE:2, OMIM:300982]
synonym: "MRX103" EXACT ABBREVIATION [MONDOLEX:0010508, OMIM:300982]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in KLHL15" EXACT [MONDO:design_pattern]
xref: OMIM:300982 {source="MONDO:equivalentTo"}
xref: UMLS:C4310818 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300982", source="MONDO:Redundant", source="OMIM:300982"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310818

[Term]
id: MONDO:0010509
name: intellectual disability, X-linked 104
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FRMPD4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 104; MRX104" EXACT [MONDOLEX:0010509]
synonym: "mental retardation, X-linked 104" EXACT [OMIM:300983]
synonym: "mental retardation, X-linked 104; MRX104" RELATED [OMIM:300983]
synonym: "mental retardation, X-linked type 104" EXACT [MONDORULE:2, OMIM:300983]
synonym: "MRX104" EXACT ABBREVIATION [MONDOLEX:0010509, OMIM:300983]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" EXACT [MONDO:design_pattern]
xref: OMIM:300983 {source="MONDO:equivalentTo"}
xref: UMLS:C4310817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300983", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310817

[Term]
id: MONDO:0010510
name: intellectual disability, X-linked 105
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." [MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 105; MRX105" EXACT [MONDOLEX:0010510]
synonym: "mental retardation, X-linked 105" EXACT [OMIM:300984]
synonym: "mental retardation, X-linked 105; MRX105" RELATED [OMIM:300984]
synonym: "mental retardation, X-linked type 105" EXACT [MONDORULE:2, OMIM:300984]
synonym: "MRX105" EXACT ABBREVIATION [MONDOLEX:0010510, OMIM:300984]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP27X" EXACT [MONDO:design_pattern]
synonym: "USP27X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:300984 {source="MONDO:equivalentTo"}
xref: UMLS:C4310816 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:300984", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/300984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310816

[Term]
id: MONDO:0010511
name: vas deferens, congenital bilateral aplasia of, X-linked
synonym: "CBAVDX" EXACT ABBREVIATION [MONDOLEX:0010511, OMIM:300985]
synonym: "vas deferens, congenital bilateral aplasia of, X-linked" EXACT [OMIM:300985]
synonym: "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" EXACT [MONDOLEX:0010511]
xref: OMIM:300985 {source="MONDO:equivalentTo"}
xref: UMLS:C4310815 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018801 {source="OMIM:300985", source="ORDO:48/btnt"} ! congenital bilateral absence of vas deferens
property_value: exactMatch http://identifiers.org/omim/300985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310815

[Term]
id: MONDO:0010512
name: intellectual disability, X-linked, syndromic, bain type
synonym: "intellectual disability, X-linked, syndromic, bain type; MRXSB" EXACT [MONDOLEX:0010512]
synonym: "mental retardation, X-linked, syndromic, bain type" EXACT [OMIM:300986]
synonym: "mental retardation, X-linked, syndromic, bain type; MRXSB" RELATED [OMIM:300986]
synonym: "MRXSB" EXACT ABBREVIATION [MONDOLEX:0010512, OMIM:300986]
xref: OMIM:300986 {source="MONDO:equivalentTo"}
xref: UMLS:C4310814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:300986"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300986
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310814

[Term]
id: MONDO:0010513
name: intellectual disability, X-linked, syndromic, Borck type
synonym: "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK" EXACT [MONDOLEX:0010513]
synonym: "mental retardation, X-linked, syndromic, Borck type" EXACT [OMIM:300987]
synonym: "moved to 300148" RELATED [OMIM:300987]
synonym: "MRXSBRK" EXACT ABBREVIATION [MONDOLEX:0010513, OMIM:300987]
xref: OMIM:300987 {source="MONDO:equivalentTo"}
xref: UMLS:C4310813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:300987"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/300987
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310813

[Term]
id: MONDO:0010514
name: combined immunodeficiency due to moesin deficiency
subset: ordo_disease
synonym: "Cid due to Moesin deficiency" EXACT [Orphanet:504530]
synonym: "IMD50" EXACT [OMIM:300988]
synonym: "immunodeficiency 50" EXACT [OMIM:300988]
synonym: "immunodeficiency 50, X-linked recessive" RELATED [OMIM:300988]
synonym: "immunodeficiency 50; IMD50" RELATED [OMIM:300988]
synonym: "immunodeficiency type 50" EXACT [MONDORULE:2, OMIM:300988]
synonym: "MSN-related combined immunodeficiency" EXACT [Orphanet:504530]
synonym: "X-linked Moesin-associated immunodeficiency" EXACT [Orphanet:504530]
xref: OMIM:300988 {source="MONDO:equivalentTo", source="Orphanet:504530"}
xref: Orphanet:504530 {source="MONDO:equivalentTo"}
xref: UMLS:C4310812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:504530"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/300988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310812
property_value: exactMatch Orphanet:504530

[Term]
id: MONDO:0010515
name: Meester-Loeys syndrome
synonym: "Meester-Loeys syndrome" EXACT [OMIM:300989]
synonym: "Meester-Loeys syndrome; MRLS" EXACT [MONDOLEX:0010515]
synonym: "MRLS" EXACT ABBREVIATION [MONDOLEX:0010515]
synonym: "MRLS" RELATED [OMIM:300989]
xref: OMIM:300989 {source="MONDO:equivalentTo"}
xref: UMLS:C4310811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/300989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310811

[Term]
id: MONDO:0010516
name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
synonym: "MFHIEN" EXACT ABBREVIATION [MONDOLEX:0010516, OMIM:300990]
synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" EXACT [OMIM:300990]
synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN" EXACT [MONDOLEX:0010516]
xref: OMIM:300990 {source="MONDO:equivalentTo"}
xref: UMLS:C4310810 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010263 ! Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
property_value: exactMatch http://identifiers.org/omim/300990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310810

[Term]
id: MONDO:0010517
name: ciliary dyskinesia, primary, 36, X-linked
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD36" EXACT ABBREVIATION [MONDOLEX:0010517, OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, X-linked" EXACT [OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, X-linked; CILD36" EXACT [MONDOLEX:0010517]
synonym: "PIH1D3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia caused by mutation in PIH1D3" EXACT [MONDO:design_pattern]
xref: OMIM:300991 {source="MONDO:equivalentTo"}
xref: UMLS:C4478372 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN240511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:300991", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/300991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4478372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240511

[Term]
id: MONDO:0010518
name: Wiskott-Aldrich syndrome
def: "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." [Orphanet:906]
subset: gard_rare {source="GARD:0007895"}
subset: ordo_disease {source="Orphanet:906"}
synonym: "Aldrich syndrome" RELATED [OMIM:301000]
synonym: "eczema thrombocytopenia immunodeficiency syndrome" RELATED [GARD:0007895]
synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT [OMIM:301000, Orphanet:906]
synonym: "Imd 2" RELATED [GARD:0007895]
synonym: "immunodeficiency 2" RELATED [OMIM:301000]
synonym: "was" EXACT [MONDO:Lexical, OMIM:301000, Orphanet:906]
synonym: "Wiskott Aldrich syndrome" RELATED [GARD:0007895]
synonym: "Wiskott syndrome" EXACT [CSP2005:1849-0285, DOID:9169]
synonym: "Wiskott-Aldrich syndrome" EXACT [MONDO:Lexical, OMIM:301000]
synonym: "Wiskott-Aldrich syndrome 1" RELATED [OMIM:301000]
synonym: "Wiskott-Aldrich syndrome; was" RELATED [OMIM:301000]
xref: COHD:440982 {source="MONDO:equivalentTo"}
xref: DOID:9169 {source="MONDO:equivalentTo"}
xref: GARD:0007895 {source="MONDO:equivalentTo"}
xref: ICD10:D82.0 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="ORDO:906/specific", source="DOID:9169"}
xref: ICD9:279.12 {source="DOID:9169"}
xref: MedDRA:10047992 {source="ORDO:906/e", source="Orphanet:906"}
xref: MESH:D014923 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="MONDO:ontobio", source="DOID:9169"}
xref: NCIT:C3448 {source="MONDO:equivalentTo", source="DOID:9169"}
xref: OMIM:301000 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="DOID:9169"}
xref: Orphanet:906 {source="OMIM:301000", source="MONDO:equivalentTo", source="OMIM:277970"}
xref: SCTID:36070007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:9169"}
xref: UMLS:C0043194 {source="OMIM:301000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277970", source="ORDO:906/e", source="Orphanet:906", source="NCIT:C3448", source="DOID:9169"}
is_a: MONDO:0000425 {source="DOID:9169", source="MESH:D014923"} ! X-linked disease
is_a: MONDO:0015131 {source="NCIT:C3448"} ! congenital combined immunodeficiency
is_a: MONDO:0015945 {source="Orphanet:906"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018035 {source="Orphanet:906"} ! syndrome with combined immunodeficiency
is_a: MONDO:0019305 {source="Orphanet:906"} ! immune deficiency with skin involvement
is_a: MONDO:0020118 {source="Orphanet:906"} ! dense granule disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:9169
property_value: exactMatch http://identifiers.org/meddra/10047992
property_value: exactMatch http://identifiers.org/mesh/D014923
property_value: exactMatch http://identifiers.org/omim/301000
property_value: exactMatch http://identifiers.org/snomedct/36070007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043194
property_value: exactMatch NCIT:C3448
property_value: exactMatch Orphanet:906
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome xsd:anyURI {source="GARD:0007895"}

[Term]
id: MONDO:0010519
name: alpha thalassemia-X-linked intellectual disability syndrome
def: "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." [Orphanet:847]
comment: Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases.
subset: do_inheritance_inconsistent
subset: gard_rare {source="GARD:0005864"}
subset: ordo_disease {source="Orphanet:847"}
synonym: "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked" RELATED [GARD:0005864]
synonym: "Alpha thalassemia X-linked mental retardation syndrome" EXACT [NCIT:C118631]
synonym: "Alpha thalassemia/mental retardation syndrome X-linked" EXACT [NCIT:C118631]
synonym: "Alpha-thalassemia x-linked intellectual disability syndrome" RELATED [GARD:0005864]
synonym: "Alpha-thalassemia-X-linked intellectual disability syndrome" RELATED [Orphanet:847]
synonym: "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT [DOID:0110030]
synonym: "Alpha-thalassemia/mental retardation syndrome, Nondeletion type" RELATED [OMIM:301040]
synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:301040]
synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked; ATRX" RELATED [OMIM:301040]
synonym: "ATR, Nondeletion type" RELATED [OMIM:301040]
synonym: "ATR, nondeletion type" EXACT [DOID:0110030]
synonym: "ATR-X syndrome" EXACT [DOID:0110030, OMIM:301040, Orphanet:847]
synonym: "ATRX" RELATED [MONDO:Lexical, OMIM:301040]
synonym: "ATRX syndrome" RELATED [GARD:0005864]
synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864]
xref: DOID:0110030 {source="MONDO:equivalentTo"}
xref: GARD:0005864 {source="MONDO:equivalentTo"}
xref: ICD10:D56.0 {source="MONDO:relatedTo", source="ORDO:847/attributed", source="ORDO:847/ntbt", source="Orphanet:847", source="DOID:0110030"}
xref: MESH:C538258 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118631 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.72/4.40"}
xref: OMIM:301040 {source="ORDO:847/e", source="MONDO:equivalentTo", source="Orphanet:847", source="DOID:0110030"}
xref: Orphanet:847 {source="MONDO:equivalentTo", source="DOID:0110030", source="OMIM:301040"}
xref: SCTID:715342005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C1845055 {source="NCBI:mim2gene_medline", source="NCIT:C118631", source="ORDO:847/e", source="MONDO:equivalentTo", source="Orphanet:847", source="OMIM:301040"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0016513 {source="Orphanet:847"} ! alpha-thalassemia-related diseases
is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome
is_a: MONDO:0017978 {source="Orphanet:847"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0019050 ! inherited hemoglobinopathy
is_a: MONDO:0020042 {source="Orphanet:847"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch DOID:0110030
property_value: exactMatch http://identifiers.org/mesh/C538258
property_value: exactMatch http://identifiers.org/omim/301040
property_value: exactMatch http://identifiers.org/snomedct/715342005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845055
property_value: exactMatch NCIT:C118631
property_value: exactMatch Orphanet:847
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome xsd:anyURI {source="GARD:0005864"}

[Term]
id: MONDO:0010520
name: X-linked Alport syndrome
def: "X-linked form of Alport syndrome." [MONDO:patterns/x_linked]
subset: ordo_etiological_subtype {source="Orphanet:88917"}
synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:301050]
synonym: "Alport syndrome, X-linked; ATS" RELATED [OMIM:301050]
synonym: "ATS" RELATED [DOID:0110034, MONDO:Lexical, OMIM:301050]
synonym: "congenital hereditary hematuria" RELATED [GARD:0005785]
synonym: "hemorrhagic familial nephritis" RELATED [GARD:0005785]
synonym: "hemorrhagic hereditary nephritis" RELATED [GARD:0005785]
synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034]
synonym: "nephropathy and deafness, X-linked" RELATED [OMIM:301050]
xref: DOID:0110034 {source="MONDO:equivalentTo"}
xref: GARD:0005785 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:88917/attributed", source="ORDO:88917/ntbt", source="Orphanet:88917"}
xref: MedDRA:10001843 {source="ORDO:88917/e", source="Orphanet:88917"}
xref: OMIM:301050 {source="MONDO:equivalentTo", source="ORDO:88917/e", source="Orphanet:88917", source="DOID:0110034"}
xref: Orphanet:88917 {source="MONDO:equivalentTo", source="DOID:0110034", source="OMIM:301050"}
xref: SCTID:717768004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="Orphanet:88917"} ! Alport syndrome
is_a: MONDO:0020768 ! X-linked deafness
property_value: exactMatch DOID:0110034
property_value: exactMatch http://identifiers.org/meddra/10001843
property_value: exactMatch http://identifiers.org/omim/301050
property_value: exactMatch http://identifiers.org/snomedct/717768004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567742
property_value: exactMatch Orphanet:88917

[Term]
id: MONDO:0010521
name: amelogenesis imperfecta type 1E
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note:
subset: gard_rare
synonym: "AI1E" RELATED [MONDO:Lexical, OMIM:301200]
synonym: "AIH1" EXACT [DOID:0110058, GARD:0009943]
synonym: "amelogenesis imperfecta caused by mutation in AMELX" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [DOID:0110058]
synonym: "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1" RELATED [GARD:0009943]
synonym: "amelogenesis imperfecta type IE" EXACT [DOID:0110058]
synonym: "amelogenesis imperfecta X-linked 1" RELATED [GARD:0009943]
synonym: "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, type 1E" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, type IE" RELATED [MONDO:Lexical, OMIM:301200]
synonym: "amelogenesis imperfecta, type IE; AI1E" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, X-linked 1" RELATED [OMIM:301200]
synonym: "AMELX amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "enamel hypoplasia X-linked" RELATED [GARD:0009943]
synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301200]
synonym: "X-linked amelogenesis imperfecta 1" EXACT [DOID:0110058]
synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT [DOID:0110058]
synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110058]
xref: DOID:0110058 {source="MONDO:equivalentTo"}
xref: GARD:0009943 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110058"}
xref: OMIM:301200 {source="GARD:0009943", source="MONDO:equivalentTo", source="DOID:0110058"}
is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845052
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845053
property_value: exactMatch DOID:0110058
property_value: exactMatch http://identifiers.org/omim/301200
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1 xsd:anyURI {source="GARD:0009943"}

[Term]
id: MONDO:0010522
name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." [DOID:0110059, PMID:1358807]
synonym: "AIH3" EXACT [DOID:0110059]
synonym: "AIH3 ( formerly)" RELATED [GARD:0009944]
synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT DEPRECATED [DOID:0110059]
synonym: "amelogenesis imperfecta 3, hypoplastic type" RELATED DEPRECATED [OMIM:301201]
synonym: "amelogenesis imperfecta 3, hypoplastic type (formerly)" RELATED [GARD:0009944]
synonym: "amelogenesis imperfecta 3, hypoplastic type, formerly" RELATED DEPRECATED [OMIM:301201]
synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [DOID:0110059]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" RELATED [OMIM:301201]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2" EXACT [MONDORULE:1, OMIM:301201]
synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301201]
synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" EXACT [DOID:0110059, MONDORULE:1]
synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110059]
xref: DOID:0110059 {source="MONDO:equivalentTo"}
xref: GARD:0009944 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K00.5 {source="DOID:0110059"}
xref: OMIM:301201 {source="MONDO:equivalentTo", source="DOID:0110059"}
xref: UMLS:C1845051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301201"}
is_a: MONDO:0019507 {source="DOID:0110059", source="MONDO:Redundant", source="OMIM:301201", source="indirect"} ! amelogenesis imperfecta
property_value: exactMatch DOID:0110059
property_value: exactMatch http://identifiers.org/omim/301201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845051

[Term]
id: MONDO:0010523
name: X-linked reticulate pigmentary disorder
def: "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." [Orphanet:85453]
subset: ordo_disease {source="Orphanet:85453"}
synonym: "amyloidosis, familial cutaneous" RELATED [OMIM:301220]
synonym: "familial cutaneous amyloidosis" EXACT [Orphanet:85453]
synonym: "Partington disease" EXACT [Orphanet:85453]
synonym: "PDR" EXACT [Orphanet:85453]
synonym: "PDR" RELATED [MONDO:Lexical, OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations" RELATED [MONDO:Lexical, OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked" RELATED [OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked; PDR" RELATED [OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations; PDR" RELATED [OMIM:301220]
synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453]
synonym: "XLPDR" EXACT [Orphanet:85453]
xref: ICD10:E85.0+ {source="Orphanet:85453", source="ORDO:85453/attributed", source="ORDO:85453/ntbt"}
xref: ICD10:L99.0* {source="Orphanet:85453", source="ORDO:85453/attributed", source="ORDO:85453/ntbt"}
xref: MESH:C564461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301220 {source="Orphanet:85453", source="MONDO:equivalentTo", source="ORDO:85453/e"}
xref: Orphanet:85453 {source="OMIM:301220", source="MONDO:equivalentTo"}
xref: SCTID:717224002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.80/0.43/0.91"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015710 {source="Orphanet:85453"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0015938 {source="Orphanet:85453"} ! systemic disease
is_a: MONDO:0018782 {source="Orphanet:85453"} ! type 1 interferonopathy
is_a: MONDO:0020215 {source="Orphanet:85453"} ! syndromic corneal dystrophy
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796250
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845050
property_value: exactMatch http://identifiers.org/mesh/C564461
property_value: exactMatch http://identifiers.org/omim/301220
property_value: exactMatch http://identifiers.org/snomedct/717224002
property_value: exactMatch Orphanet:85453

[Term]
id: MONDO:0010524
name: X-linked sideroblastic anemia with ataxia
def: "X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." [Orphanet:2802]
subset: ordo_disease {source="Orphanet:2802"}
synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554]
synonym: "anemia, Sex-linked hypochromic Siderobla" RELATED [MESH:C536358]
synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical, OMIM:301310]
synonym: "anemia, sideroblastic, and spinocerebellar ataxia; ASAT" RELATED [OMIM:301310]
synonym: "ASAT" EXACT [DOID:0060064, MESH:C536358, MONDO:Lexical, OMIM:301310]
synonym: "Pagon Bird Detter syndrome" RELATED [MESH:C536358]
synonym: "Pagon-Bird-Detter syndrome" EXACT [Orphanet:2802]
synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [MESH:C536358, MONDO:0000609]
synonym: "X-linked sideroblastic Anemia and ataxia" RELATED [MESH:C536358]
synonym: "X-linked sideroblastic anemia and ataxia" EXACT [DOID:0050554]
synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [Orphanet:2802]
synonym: "X-linked sideroblastic anemia with ataxia" EXACT [Orphanet:2802]
synonym: "X-linked sideroblastic anemia with spinocerebellar ataxia" EXACT []
synonym: "XLSA-A" EXACT [Orphanet:2802]
synonym: "Xlsa-A" RELATED [MESH:C536358]
xref: DOID:0050554 {source="MONDO:equivalentTo"}
xref: DOID:0060064 {source="MONDO:equivalentTo"}
xref: GARD:0000668 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D64.0 {source="ORDO:2802/attributed", source="ORDO:2802/ntbt", source="Orphanet:2802"}
xref: MESH:C536358 {source="MONDO:equivalentTo"}
xref: OMIM:301310 {source="DOID:0050554", source="MONDO:equivalentTo", source="ORDO:2802/e", source="Orphanet:2802"}
xref: Orphanet:2802 {source="OMIM:301310", source="MONDO:equivalentTo"}
xref: SCTID:719816006 {source="MONDO:equivalentTo"}
xref: UMLS:C1845028 {source="OMIM:301310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2802/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2802"}
xref: UMLS:C4304338 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0010419 {source="MONDO:Redundant"} ! X-linked sideroblastic anemia
is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia
is_a: MONDO:0016803 {source="Orphanet:2802"} ! unspecified inborn mitochondrial disorder
property_value: exactMatch DOID:0050554
property_value: exactMatch DOID:0060064
property_value: exactMatch http://identifiers.org/mesh/C536358
property_value: exactMatch http://identifiers.org/omim/301310
property_value: exactMatch http://identifiers.org/snomedct/719816006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304338
property_value: exactMatch Orphanet:2802

[Term]
id: MONDO:0010525
name: neural tube defects, X-linked
subset: gard_rare
synonym: "anencephaly and spina bifida X-linked" RELATED [GARD:0000669]
synonym: "neural tube defects, X-linked" EXACT [OMIM:301410]
synonym: "spina bifida, X-linked" RELATED [OMIM:301410]
synonym: "X-linked anencephaly/spina bifida" RELATED [GARD:0000669]
xref: GARD:0000669 {source="MONDO:equivalentTo"}
xref: MESH:C536359 {source="MONDO:equivalentTo"}
xref: OMIM:301410 {source="MONDO:equivalentTo", source="GARD:0000669"}
xref: UMLS:C1845026 {source="MONDO:equivalentTo", source="OMIM:301410"}
is_a: MONDO:0019351 {source="ORDO:823/btnt"} ! isolated spina bifida
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845027
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931178
property_value: exactMatch http://identifiers.org/mesh/C536359
property_value: exactMatch http://identifiers.org/omim/301410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845026
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked xsd:anyURI {source="GARD:0000669"}

[Term]
id: MONDO:0010526
name: Fabry disease
def: "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." [Orphanet:324]
subset: clingen
subset: ordo_disease {source="Orphanet:324"}
synonym: "alpha galactosidase deficiency" EXACT [CSP2005:1849-9034, DOID:14499]
synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, Orphanet:324]
synonym: "Anderson-Fabry disease" EXACT [OMIM:301500, Orphanet:324]
synonym: "angiokeratoma corporis diffusum" EXACT [DOID:14499, NCIT:C27528, OMIM:301500, Orphanet:324]
synonym: "angiokeratoma, diffuse" RELATED [GARD:0006400]
synonym: "ceramide trihexosidase deficiency" RELATED [OMIM:301500]
synonym: "deficiency of melibiase" EXACT [DOID:14499]
synonym: "diffuse angiokeratoma" EXACT [Orphanet:324]
synonym: "Fabry disease" EXACT [OMIM:301500]
synonym: "Fabry disease, Cardiac variant" RELATED [OMIM:301500]
synonym: "Fabry's disease" EXACT [DOID:14499, MTHICD9_2006:272.7]
synonym: "Fd" EXACT [Orphanet:324]
synonym: "Gla deficiency" RELATED [OMIM:301500]
synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500]
xref: DOID:14499 {source="MONDO:equivalentTo"}
xref: GARD:0006400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:324", source="ORDO:324/inclusion", source="ORDO:324/ntbt"}
xref: ICD10:E75.21 {source="DOID:14499"}
xref: MedDRA:10016016 {source="Orphanet:324", source="ORDO:324/e"}
xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="DOID:14499", source="ORDO:324/e"}
xref: NCIT:C84701 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14499"}
xref: OMIM:301500 {source="Orphanet:324", source="MONDO:equivalentTo", source="DOID:14499", source="ORDO:324/e"}
xref: Orphanet:324 {source="MONDO:equivalentTo", source="OMIM:301500"}
xref: SCTID:16652001 {source="MONDO:equivalentTo", source="DOID:14499"}
xref: UMLS:C0002986 {source="Orphanet:324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301500", source="DOID:14499", source="ORDO:324/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015327 {source="Orphanet:324"} ! developmental anomaly of metabolic origin
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016133 {source="Orphanet:324"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016326 {source="Orphanet:324"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0016341 {source="Orphanet:324"} ! lysosomal disease with restrictive cardiomyopathy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018299 {source="Orphanet:324"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019293 {source="Orphanet:324"} ! skin vascular disease
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="Orphanet:324"} ! syndromic lymphedema
is_a: MONDO:0019743 {source="Orphanet:324"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020228 {source="Orphanet:324"} ! cataract associated with a metabolic disease
is_a: MONDO:0020279 {source="Orphanet:324"} ! metabolic disease with corneal opacity
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043218 ! neurovascular disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124464003
property_value: closeMatch http://identifiers.org/snomedct/190792005
property_value: closeMatch http://identifiers.org/snomedct/190796008
property_value: closeMatch http://identifiers.org/snomedct/236536000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970820
property_value: exactMatch DOID:14499
property_value: exactMatch http://identifiers.org/meddra/10016016
property_value: exactMatch http://identifiers.org/mesh/D000795
property_value: exactMatch http://identifiers.org/omim/301500
property_value: exactMatch http://identifiers.org/snomedct/16652001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002986
property_value: exactMatch NCIT:C27528
property_value: exactMatch NCIT:C84701
property_value: exactMatch Orphanet:324

[Term]
id: MONDO:0010527
name: microphthalmia-ankyloblepharon-intellectual disability syndrome
def: "Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait." [Orphanet:85275]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:85275"}
synonym: "Anop1" RELATED [OMIM:301590]
synonym: "Anop1, formerly" RELATED [OMIM:301590]
synonym: "MCOPS4" EXACT [GARD:0005066, MONDO:Lexical, OMIM:301590, Orphanet:85275]
synonym: "microphthalmia syndromic 4" RELATED [GARD:0005066]
synonym: "microphthalmia with ankyloblepharon and mental retardation" RELATED [GARD:0005066, OMIM:301590]
synonym: "microphthalmia, syndromic 4" RELATED [MONDO:Lexical, OMIM:301590]
synonym: "microphthalmia, syndromic 4; MCOPS4" RELATED [OMIM:301590]
synonym: "syndromic microphthalmia type 4" EXACT [GARD:0005066, Orphanet:85275]
xref: GARD:0005066 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.2 {source="ORDO:85275/attributed", source="ORDO:85275/ntbt", source="Orphanet:85275"}
xref: MESH:C564457 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301590 {source="MONDO:equivalentTo", source="GARD:0005066", source="ORDO:85275/e", source="Orphanet:85275"}
xref: Orphanet:85275 {source="MONDO:equivalentTo", source="GARD:0005066", source="OMIM:301590"}
xref: SCTID:717222003 {source="MONDO:kboom-pr-1.00/0.80/9.26", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85275"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="DC-OMIM:301590", source="MONDOLEX:0010527", source="OMIM:301590", source="Orphanet:85275"} ! syndromic microphthalmia
is_a: MONDO:0020119 {source="Orphanet:85275"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844948
property_value: exactMatch http://identifiers.org/mesh/C564457
property_value: exactMatch http://identifiers.org/omim/301590
property_value: exactMatch http://identifiers.org/snomedct/717222003
property_value: exactMatch Orphanet:85275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 xsd:anyURI {source="GARD:0005066"}

[Term]
id: MONDO:0010528
name: anosmia (disease)
def: "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." [MESH:D000857]
synonym: "anosmia" EXACT [MONDO:ambiguous, OMIM:301700]
xref: HP:0000458 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D000857 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003126
property_value: exactMatch http://identifiers.org/mesh/D000857
property_value: exactMatch http://identifiers.org/omim/301700

[Term]
id: MONDO:0010529
name: X-linked spinocerebellar ataxia type 3
def: "X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." [Orphanet:85297]
subset: gard_rare {source="GARD:0009981"}
subset: ordo_malformation_syndrome {source="Orphanet:85297"}
synonym: "ataxia-deafness syndrome X-linked" RELATED [GARD:0009981]
synonym: "ataxia-deafness syndrome, X-linked" RELATED [OMIM:301790]
synonym: "SCAX3" EXACT [Orphanet:85297]
synonym: "Scax3" RELATED [OMIM:301790]
synonym: "spinocerebellar ataxia X-linked type 3" RELATED [GARD:0009981]
synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790]
synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790]
synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297]
xref: GARD:0009981 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:85297/attributed", source="ORDO:85297/ntbt", source="Orphanet:85297"}
xref: MESH:C537315 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:85297/e", source="Orphanet:85297"}
xref: OMIM:301790 {source="MONDO:equivalentTo", source="ORDO:85297/e", source="Orphanet:85297"}
xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"}
xref: SCTID:719817002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1844936 {source="OMIM:301790", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85297/e", source="Orphanet:85297"}
is_a: MONDO:0016612 {source="MONDOLEX:0010529", source="Orphanet:85297"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="Orphanet:85297"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537315
property_value: exactMatch http://identifiers.org/omim/301790
property_value: exactMatch http://identifiers.org/snomedct/719817002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844936
property_value: exactMatch Orphanet:85297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 xsd:anyURI {source="GARD:0009981"}

[Term]
id: MONDO:0010530
name: obsolete anus, imperforate
is_obsolete: true
replaced_by: MONDO:0001046

[Term]
id: MONDO:0010531
name: contractures-ectodermal dysplasia-cleft lip/palate syndrome
def: "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." [Orphanet:1484]
subset: ordo_malformation_syndrome {source="Orphanet:1484"}
synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [OMIM:301815]
synonym: "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment" RELATED [GARD:0001515]
synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001515]
synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515]
synonym: "Ladda-Zonana-Ramer syndrome" EXACT [Orphanet:1484]
xref: GARD:0001515 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1484", source="ORDO:1484/attributed", source="ORDO:1484/ntbt"}
xref: OMIM:301815 {source="Orphanet:1484", source="ORDO:1484/e", source="MONDO:equivalentTo"}
xref: Orphanet:1484 {source="MONDO:equivalentTo", source="OMIM:301815"}
xref: SCTID:720746006 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1484"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015335 {source="Orphanet:1484"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="MONDOLEX:0010531", source="Orphanet:1484", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C535465
property_value: exactMatch http://identifiers.org/mesh/C538135
property_value: exactMatch http://identifiers.org/omim/301815
property_value: exactMatch http://identifiers.org/snomedct/720746006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931745
property_value: exactMatch Orphanet:1484

[Term]
id: MONDO:0010532
name: infantile-onset X-linked spinal muscular atrophy
def: "and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." [Orphanet:1145]
subset: ordo_disease {source="Orphanet:1145"}
synonym: "AMC, distal, X-linked" RELATED [OMIM:301830]
synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [OMIM:301830]
synonym: "arthrogryposis, X-linked, type 1" RELATED [OMIM:301830]
synonym: "SMAX2" EXACT [MONDO:Lexical, OMIM:301830, Orphanet:1145]
synonym: "spinal muscular atrophy with arthrogryposis" EXACT [Orphanet:1145]
synonym: "spinal muscular atrophy, infantile X-linked" RELATED [OMIM:301830]
synonym: "spinal muscular atrophy, X-linked 2" RELATED [MONDO:Lexical, OMIM:301830]
synonym: "spinal muscular atrophy, X-linked 2; SMAX2" RELATED [OMIM:301830]
synonym: "spinal muscular atrophy, X-linked lethal infantile" RELATED [OMIM:301830]
synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301830]
synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145]
synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145]
xref: GARD:0008521 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.1 {source="Orphanet:1145", source="ORDO:1145/attributed", source="ORDO:1145/ntbt"}
xref: MESH:C535380 {source="Orphanet:1145", source="ORDO:1145/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301830 {source="Orphanet:1145", source="ORDO:1145/e", source="MONDO:equivalentTo"}
xref: Orphanet:1145 {source="MONDO:equivalentTo", source="OMIM:301830"}
xref: SCTID:719836007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1844934 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1145", source="ORDO:1145/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301830"}
is_a: MONDO:0001516 {source="DC-OMIM:301830", source="linkedlifedata"} ! spinal muscular atrophy
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita
property_value: exactMatch http://identifiers.org/mesh/C535380
property_value: exactMatch http://identifiers.org/omim/301830
property_value: exactMatch http://identifiers.org/snomedct/719836007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844934
property_value: exactMatch Orphanet:1145

[Term]
id: MONDO:0010533
name: Arts syndrome
def: "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." [Orphanet:1187]
subset: clingen
subset: gard_rare {source="GARD:0008756"}
subset: ordo_disease {source="Orphanet:1187"}
synonym: "Arts" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835]
synonym: "Arts syndrome" EXACT [MONDO:Lexical, OMIM:301835, Orphanet:1187]
synonym: "Arts syndrome; Arts" RELATED [OMIM:301835]
synonym: "ataxia, fatal X-linked, with deafness and loss of vision" RELATED [OMIM:301835]
synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [DOID:0050647]
synonym: "lethal ataxia with deafness and optic atrophy" EXACT [DOID:0050647]
synonym: "lethal ataxia-deafness-optic atrophy" RELATED [GARD:0008756]
synonym: "mental retardation, X-linked, syndromic 18" RELATED [OMIM:301835]
synonym: "mental retardation, X-linked, syndromic, Arts type" RELATED [OMIM:301835]
synonym: "MRXS18" EXACT [DOID:0050647]
synonym: "MRXSARTS" EXACT [DOID:0050647]
synonym: "syndromic X-linked mental retardation 18" EXACT [DOID:0050647]
synonym: "syndromic X-linked mental retardation Arts type" EXACT [DOID:0050647]
synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756]
xref: DOID:0050647 {source="MONDO:equivalentTo"}
xref: GARD:0008756 {source="MONDO:equivalentTo"}
xref: ICD10:E79.8 {source="Orphanet:1187", source="DOID:0050647", source="ORDO:1187/attributed", source="ORDO:1187/ntbt"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535388 {source="Orphanet:1187", source="ORDO:1187/e", source="MONDO:equivalentTo", source="DOID:0050647", source="MONDO:ontobio"}
xref: OMIM:301835 {source="Orphanet:1187", source="ORDO:1187/e", source="MONDO:equivalentTo", source="DOID:0050647"}
xref: Orphanet:1187 {source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"}
xref: SCTID:702441001 {source="MONDO:kboom-pr-1.00/0.79/7.96", source="MONDO:equivalentTo"}
xref: UMLS:C0796028 {source="Orphanet:1187", source="ORDO:1187/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016612 {source="Orphanet:1187"} ! X-linked cerebellar ataxia
is_a: MONDO:0019236 {source="Orphanet:1187"} ! inborn disorder of purine metabolism
is_a: MONDO:0019589 {source="Orphanet:1187"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="DC-OMIM:301835", source="DOID:0050647", source="OMIM:301835", source="Orphanet:1187"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020768 ! X-linked deafness
property_value: exactMatch DOID:0050647
property_value: exactMatch http://identifiers.org/mesh/C535388
property_value: exactMatch http://identifiers.org/omim/301835
property_value: exactMatch http://identifiers.org/snomedct/702441001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796028
property_value: exactMatch Orphanet:1187
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome xsd:anyURI {source="GARD:0008756"}

[Term]
id: MONDO:0010534
name: X-linked spinocerebellar ataxia type 4
def: "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." [Orphanet:85292]
subset: gard_rare {source="GARD:0009980"}
subset: ordo_disease {source="Orphanet:85292"}
synonym: "ataxia-dementia syndrome X-linked" RELATED [GARD:0009980]
synonym: "ataxia-dementia syndrome, X-linked" RELATED [OMIM:301840]
synonym: "SCAX4" EXACT [Orphanet:85292]
synonym: "Scax4" RELATED [OMIM:301840]
synonym: "spinocerebellar ataxia X-linked type 4" RELATED [GARD:0009980]
synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840]
synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840]
synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292]
xref: GARD:0009980 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:85292/attributed", source="ORDO:85292/ntbt", source="Orphanet:85292"}
xref: MESH:C537316 {source="MONDO:equivalentTo", source="ORDO:85292/e", source="MONDO:ontobio", source="Orphanet:85292"}
xref: OMIM:301840 {source="MONDO:equivalentTo", source="ORDO:85292/e", source="Orphanet:85292"}
xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"}
xref: SCTID:719818007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1844933 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301840", source="ORDO:85292/e", source="Orphanet:85292"}
is_a: MONDO:0016612 {source="MONDOLEX:0010534", source="Orphanet:85292"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="Orphanet:85292"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537316
property_value: exactMatch http://identifiers.org/omim/301840
property_value: exactMatch http://identifiers.org/snomedct/719818007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844933
property_value: exactMatch Orphanet:85292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 xsd:anyURI {source="GARD:0009980"}

[Term]
id: MONDO:0010535
name: Bazex-Dupre-Christol syndrome
def: "Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas." [Orphanet:113]
subset: ordo_disease {source="Orphanet:113"}
synonym: "Bazex syndrome" RELATED [MONDO:Lexical, OMIM:301845]
synonym: "Bazex syndrome; BZX" RELATED [OMIM:301845]
synonym: "Bazex-Dupre-Christol syndrome" EXACT [OMIM:301845]
synonym: "Bazex-Dupré-Christol syndrome" RELATED [Orphanet:113]
synonym: "BDCS" EXACT [Orphanet:113]
synonym: "BZX" RELATED [MONDO:Lexical, OMIM:301845]
synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, Orphanet:113]
synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838]
synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838]
xref: GARD:0000838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L98.8 {source="ORDO:113/attributed", source="ORDO:113/ntbt", source="Orphanet:113"}
xref: OMIM:301845 {source="MONDO:equivalentTo", source="ORDO:113/e", source="Orphanet:113"}
xref: Orphanet:113 {source="MONDO:equivalentTo", source="OMIM:301845"}
xref: SCTID:254820002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015331 {source="Orphanet:113"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015950 {source="Orphanet:113", source="indirect"} ! inherited skin tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020175 {source="Orphanet:113"} ! malignant tumor of palpebral epidermis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:113"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020188 {source="Orphanet:113"} ! obsolete congenital absence of the eyebrow/eyelashes
property_value: exactMatch http://identifiers.org/mesh/C537663
property_value: exactMatch http://identifiers.org/omim/301845
property_value: exactMatch http://identifiers.org/snomedct/254820002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346104
property_value: exactMatch Orphanet:113

[Term]
id: MONDO:0010536
name: tubulin, beta
synonym: "tubulin, beta" EXACT [OMIM:301850]
xref: OMIM:301850 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005290
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887557
property_value: exactMatch http://identifiers.org/omim/301850

[Term]
id: MONDO:0010537
name: Borjeson-Forssman-Lehmann syndrome
def: "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." [Orphanet:127]
subset: gard_rare {source="GARD:0000936"}
subset: ordo_malformation_syndrome {source="Orphanet:127"}
synonym: "BFLS" EXACT [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127]
synonym: "BORJ" EXACT [DOID:0050681]
synonym: "Borjeson syndrome" EXACT [DOID:0050681, OMIM:301900]
synonym: "Borjeson-Forssman-Lehmann syndrome" EXACT [MONDO:Lexical, OMIM:301900]
synonym: "Borjeson-FORSSMAN-Lehmann syndrome; BFLS" RELATED [OMIM:301900]
synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [DOID:0050681]
synonym: "intellectual disability-epilepsy-endocrine disorders syndrome" EXACT [Orphanet:127]
synonym: "mental deficiency, epilepsy and endocrine disorders" RELATED [GARD:0000936]
synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT [DOID:0050681]
synonym: "mental retardation, epilepsy, and endocrine disorders" RELATED [OMIM:301900]
synonym: "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED [OMIM:301900]
synonym: "MRXSBFL" EXACT [DOID:0050681]
synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT [DOID:0050681]
xref: DOID:0050681 {source="MONDO:equivalentTo"}
xref: GARD:0000936 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:127", source="ORDO:127/attributed", source="ORDO:127/ntbt", source="DOID:0050681"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0050681", source="ORDO:127/e"}
xref: OMIM:301900 {source="Orphanet:127", source="MONDO:equivalentTo", source="DOID:0050681", source="ORDO:127/e"}
xref: Orphanet:127 {source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681"}
xref: SCTID:21634003 {source="MONDO:equivalentTo", source="DOID:0050681", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265339 {source="Orphanet:127", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681", source="ORDO:127/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:127"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:127"} ! syndromic genetic obesity
is_a: MONDO:0020119 {source="DC-OMIM:301900", source="DOID:0050681", source="OMIM:301900", source="Orphanet:127"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020169 {source="Orphanet:127"} ! rare disorder with ptosis
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:127"} ! monogenic epilepsy
property_value: exactMatch DOID:0050681
property_value: exactMatch http://identifiers.org/mesh/C536575
property_value: exactMatch http://identifiers.org/omim/301900
property_value: exactMatch http://identifiers.org/snomedct/21634003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265339
property_value: exactMatch Orphanet:127
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome xsd:anyURI {source="GARD:0000936"}

[Term]
id: MONDO:0010538
name: Mononen-Karnes-Senac syndrome
def: "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." [Orphanet:2565]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2565"}
synonym: "brachydactyly Mononen type" RELATED [GARD:0004886]
synonym: "brachydactyly, Mononen type" RELATED [OMIM:301940]
synonym: "Mononen Karnes Senac syndrome" RELATED [GARD:0004886]
synonym: "Mononen type brachydactyly" EXACT [DOID:0110973]
synonym: "short and abducted thumbs and great toes" EXACT [DOID:0110973]
synonym: "skeletal dysplasia brachydactyly" RELATED [GARD:0004886]
synonym: "skeletal dysplasia-brachydactyly syndrome" EXACT [Orphanet:2565]
synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886]
synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940]
xref: DOID:0110973 {source="MONDO:equivalentTo"}
xref: GARD:0004886 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="DOID:0110973", source="Orphanet:2565", source="ORDO:2565/attributed", source="ORDO:2565/ntbt"}
xref: MESH:C535914 {source="DOID:0110973", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo"}
xref: Orphanet:2565 {source="DOID:0110973", source="GARD:0004886", source="MONDO:equivalentTo", source="OMIM:301940"}
xref: SCTID:733095006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931060 {source="DOID:0110973", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:2565", source="Orphanet:2565/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844919
property_value: exactMatch DOID:0110973
property_value: exactMatch http://identifiers.org/mesh/C535914
property_value: exactMatch http://identifiers.org/omim/301940
property_value: exactMatch http://identifiers.org/snomedct/733095006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931060
property_value: exactMatch Orphanet:2565
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type xsd:anyURI {source="GARD:0004886"}

[Term]
id: MONDO:0010539
name: X-linked mandibulofacial dysostosis
def: "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." [Orphanet:1131]
subset: ordo_malformation_syndrome {source="Orphanet:1131"}
synonym: "branchial arch syndrome X-linked" RELATED [GARD:0001002]
synonym: "branchial arch syndrome, X-linked" RELATED [OMIM:301950]
synonym: "mandibulofacial dysostosis Toriello type" RELATED [GARD:0001002]
synonym: "mandibulofacial dysostosis, Toriello type" EXACT [OMIM:301950, Orphanet:1131]
synonym: "mandibulofacial dysostosis, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "MFD Toriello type" RELATED [GARD:0001002]
synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131]
synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131]
xref: GARD:0001002 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.4 {source="Orphanet:1131", source="ORDO:1131/attributed", source="ORDO:1131/ntbt"}
xref: MESH:C537102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="ORDO:1131/e"}
xref: Orphanet:1131 {source="MONDO:equivalentTo", source="OMIM:301950"}
xref: SCTID:719813003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1844918 {source="Orphanet:1131", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301950"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1131"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:1131"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015483 {source="MESH:C537102", source="MONDO:Redundant", source="OWLReasoner:2017"} ! mandibulofacial dysostosis
is_a: MONDO:0018237 {source="Orphanet:1131"} ! acrofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020119 {source="Orphanet:1131"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537102
property_value: exactMatch http://identifiers.org/omim/301950
property_value: exactMatch http://identifiers.org/snomedct/719813003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844918
property_value: exactMatch Orphanet:1131

[Term]
id: MONDO:0010540
name: bullous dystrophy, macular type
def: "Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." [Orphanet:1867]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1867"}
synonym: "bullous dystrophy hereditary macular type" RELATED [GARD:0001038]
synonym: "bullous dystrophy, hereditary macular type" RELATED [OMIM:302000]
synonym: "EBM" RELATED [GARD:0001038]
synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038]
synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000]
xref: GARD:0001038 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.8 {source="ORDO:1867/attributed", source="ORDO:1867/ntbt", source="Orphanet:1867"}
xref: MESH:C563065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302000 {source="GARD:0001038", source="MONDO:equivalentTo", source="ORDO:1867/e", source="Orphanet:1867"}
xref: Orphanet:1867 {source="OMIM:302000", source="GARD:0001038", source="MONDO:equivalentTo"}
xref: UMLS:C0795974 {source="OMIM:302000", source="GARD:0001038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1867"}
is_a: MONDO:0019274 {source="Orphanet:1867"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:1867"} ! other genetic epidermal disease
is_a: MONDO:0020119 {source="Orphanet:1867"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C563065
property_value: exactMatch http://identifiers.org/omim/302000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795974
property_value: exactMatch Orphanet:1867
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type xsd:anyURI {source="GARD:0001038"}

[Term]
id: MONDO:0010541
name: X-linked calvarial hyperostosis
subset: ordo_disease {source="Orphanet:391327"}
synonym: "calvarial hyperostosis" RELATED [OMIM:302030]
synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058]
xref: GARD:0001058 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:M85.2 {source="ORDO:391327/attributed", source="ORDO:391327/ntbt", source="Orphanet:391327"}
xref: MESH:C537963 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302030 {source="MONDO:equivalentTo", source="Orphanet:391327", source="ORDO:391327/e"}
xref: Orphanet:391327 {source="MONDO:equivalentTo", source="OMIM:302030"}
is_a: MONDO:0019703 {source="Orphanet:391327"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863351
property_value: exactMatch http://identifiers.org/mesh/C537963
property_value: exactMatch http://identifiers.org/omim/302030
property_value: exactMatch Orphanet:391327

[Term]
id: MONDO:0010542
name: dilated cardiomyopathy 3B
def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical, OMIM:302045]
synonym: "cardiomyopathy, dilated, 3B; CMD3B" RELATED [OMIM:302045]
synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045]
synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045]
synonym: "CMD3B" EXACT [DOID:0110461, MONDO:Lexical, OMIM:302045]
synonym: "dilated cardiomyopathy caused by mutation in DMD" EXACT [MONDO:design_pattern]
synonym: "dilated cardiomyopathy type 3B" EXACT [DOID:0110461, MONDORULE:4]
synonym: "DMD dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DMD-related dilated cardiomyopathy" RELATED [DOID:0060561]
synonym: "X-linked dilated cardiomyopathy" RELATED [DOID:0110461]
xref: DOID:0060561 {source="MONDO:equivalentTo"}
xref: DOID:0110461 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110461"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580047 {source="DOID:0060561", source="MONDO:equivalentTo"}
xref: OMIM:302045 {source="MONDO:equivalentTo", source="DOID:0110461"}
xref: SCTID:702424003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3668940 {source="OMIM:302045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0060561
property_value: exactMatch DOID:0110461
property_value: exactMatch http://identifiers.org/mesh/C580047
property_value: exactMatch http://identifiers.org/omim/302045
property_value: exactMatch http://identifiers.org/snomedct/702424003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3668940

[Term]
id: MONDO:0010543
name: Barth syndrome
def: "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." [Orphanet:111]
subset: gard_rare {source="GARD:0005890"}
subset: ordo_disease {source="Orphanet:111"}
synonym: "3-methylglutaconic aciduria type 2" EXACT [Orphanet:111]
synonym: "3-methylglutaconic aciduria type II" RELATED [GARD:0005890]
synonym: "3-Methylglutaconic aciduria, type 2" RELATED [OMIM:302060]
synonym: "3-Methylglutaconicaciduria type 2" EXACT [DOID:0050476]
synonym: "3-Methylglutaconicaciduria type II" EXACT [DOID:0050476]
synonym: "Barth syndrome" EXACT [MONDO:Lexical, OMIM:302060]
synonym: "BARTH syndrome; BTHS" RELATED [OMIM:302060]
synonym: "BTHS" EXACT [MONDO:Lexical, OMIM:302060, Orphanet:111]
synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [Orphanet:111]
synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [Orphanet:111]
synonym: "MGA type 2" EXACT [DOID:0050476]
synonym: "MGA type II" EXACT [DOID:0050476]
synonym: "Mga, type 2" RELATED [OMIM:302060]
synonym: "MGA2" EXACT [Orphanet:111]
synonym: "TAZ defect" RELATED [GARD:0005890]
synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111]
xref: DOID:0050476 {source="MONDO:equivalentTo"}
xref: GARD:0005890 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:111/attributed", source="ORDO:111/ntbt", source="Orphanet:111"}
xref: ICD10:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"}
xref: MESH:D056889 {source="DOID:0050476", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:111/e", source="Orphanet:111"}
xref: NCIT:C84585 {source="DOID:0050476", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:302060 {source="DOID:0050476", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111"}
xref: Orphanet:111 {source="MONDO:equivalentTo", source="OMIM:302060"}
xref: SCTID:297231002 {source="DOID:0050476", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0574083 {source="DOID:0050476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111", source="NCIT:C84585", source="OMIM:302060"}
is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016335 {source="Orphanet:111"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0017359 {source="DC-OMIM:302060", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111", source="linkedlifedata"} ! 3-methylglutaconic aciduria
is_a: MONDO:0018032 {source="Orphanet:111"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0018120 {source="Orphanet:111"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
property_value: exactMatch DOID:0050476
property_value: exactMatch http://identifiers.org/mesh/D056889
property_value: exactMatch http://identifiers.org/omim/302060
property_value: exactMatch http://identifiers.org/snomedct/297231002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574083
property_value: exactMatch NCIT:C84585
property_value: exactMatch Orphanet:111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome xsd:anyURI {source="GARD:0005890"}

[Term]
id: MONDO:0010544
name: cataract 40
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 40" EXACT [MONDO:Lexical, OMIM:302200]
synonym: "cataract 40 with or without microcornea" EXACT [DOID:0110272, OMIM:302200]
synonym: "cataract 40 X-linked" EXACT [DOID:0110272]
synonym: "cataract 40, X-linked" RELATED [GARD:0008278]
synonym: "cataract 40; CTRCT40" RELATED [OMIM:302200]
synonym: "cataract congenital X-linked" RELATED [GARD:0008278]
synonym: "cataract type 40" EXACT [DOID:0110272, MONDORULE:2, OMIM:302200]
synonym: "cataract, congenital total, with posterior sutural opacities in heterozygotes" RELATED [OMIM:302200]
synonym: "cataract, congenital, with microcornea or slight microphthalmia" RELATED [GARD:0008278]
synonym: "cataract, congenital, X-linked" RELATED [OMIM:302200]
synonym: "CTRCT40" EXACT [DOID:0110272, MONDO:Lexical, OMIM:302200]
synonym: "early-onset non-syndromic cataract caused by mutation in NHS" EXACT [MONDO:design_pattern]
synonym: "NHS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110272 {source="MONDO:equivalentTo"}
xref: GARD:0008278 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110272"}
xref: MESH:C535338 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302200 {source="MONDO:equivalentTo", source="DOID:0110272"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752078
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930878
property_value: exactMatch DOID:0110272
property_value: exactMatch http://identifiers.org/mesh/C535338
property_value: exactMatch http://identifiers.org/omim/302200

[Term]
id: MONDO:0010545
name: Nance-Horan syndrome
def: "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." [Orphanet:627]
subset: gard_rare {source="GARD:0007161"}
subset: ordo_malformation_syndrome {source="Orphanet:627"}
synonym: "cataract dental syndrome" RELATED [GARD:0007161]
synonym: "cataract X-linked with Hutchinsonian teeth" RELATED [GARD:0007161]
synonym: "cataract, X-linked, with Hutchinsonian teeth" RELATED [OMIM:302350]
synonym: "cataract-dental syndrome" RELATED [OMIM:302350]
synonym: "Mesiodens cataract syndrome" RELATED [GARD:0007161]
synonym: "Mesiodens-cataract syndrome" RELATED [OMIM:302350]
synonym: "Nance-Horan syndrome" EXACT [MONDO:Lexical, OMIM:302350]
synonym: "Nance-Horan syndrome; NHS" RELATED [OMIM:302350]
synonym: "NHS" RELATED [MONDO:Lexical, OMIM:302350]
xref: DOID:0060599 {source="MONDO:equivalentTo"}
xref: GARD:0007161 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:627/attributed", source="ORDO:627/ntbt", source="Orphanet:627", source="DOID:0060599"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538336 {source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="MONDO:ontobio"}
xref: OMIM:302350 {source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599"}
xref: Orphanet:627 {source="OMIM:302350", source="MONDO:equivalentTo", source="DOID:0060599"}
xref: SCTID:445257004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0796085 {source="OMIM:302350", source="NCBI:mim2gene_medline", source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599"}
is_a: MONDO:0015336 {source="Orphanet:627"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020119 {source="Orphanet:627"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020233 {source="Orphanet:627"} ! dentocutaneous disease with cataract
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:627"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060599
property_value: exactMatch http://identifiers.org/mesh/C538336
property_value: exactMatch http://identifiers.org/omim/302350
property_value: exactMatch http://identifiers.org/snomedct/445257004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796085
property_value: exactMatch Orphanet:627
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome xsd:anyURI {source="GARD:0007161"}

[Term]
id: MONDO:0010546
name: central incisors, absence of
synonym: "central incisors, absence of" EXACT [OMIM:302400]
xref: OMIM:302400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844886
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/omim/302400

[Term]
id: MONDO:0010547
name: X-linked progressive cerebellar ataxia
subset: ordo_disease {source="Orphanet:1175"}
synonym: "olivopontocerebellar atrophy, X-linked" RELATED [OMIM:302500]
synonym: "OPCA, X-linked" RELATED [OMIM:302500]
synonym: "SCAX1" RELATED [MONDO:Lexical, OMIM:302500]
synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:302500]
synonym: "spinocerebellar ataxia, X-linked 1; SCAX1" RELATED [OMIM:302500]
synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500]
xref: ICD10:G11.1 {source="Orphanet:1175", source="ORDO:1175/attributed", source="ORDO:1175/ntbt"}
xref: MESH:C563134 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="ORDO:1175/e"}
xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"}
xref: UMLS:C0796205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302500"}
is_a: MONDO:0016612 {source="MONDOLEX:0010547", source="Orphanet:1175"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="Orphanet:1175"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563134
property_value: exactMatch http://identifiers.org/omim/302500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796205
property_value: exactMatch Orphanet:1175

[Term]
id: MONDO:0010548
name: spinocerebellar ataxia, X-linked 2
synonym: "cerebellar ataxia with extrapyramidal involvement early-onset" RELATED [GARD:0009978]
synonym: "cerebellar ataxia with extrapyramidal involvement, early-onset" RELATED [OMIM:302600]
synonym: "Scax2" RELATED [OMIM:302600]
synonym: "spinocerebellar ataxia X-linked type 2" RELATED [GARD:0009978]
synonym: "spinocerebellar ataxia, X-linked 2" EXACT [OMIM:302600]
synonym: "spinocerebellar ataxia, X-linked type 2" EXACT [MONDORULE:1, OMIM:302600]
xref: GARD:0009978 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537314 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302600 {source="MONDO:equivalentTo"}
xref: UMLS:C1844885 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302600"}
is_a: MONDO:0016612 {source="MONDO:cjm", source="MONDOLEX:0010548"} ! X-linked cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C537314
property_value: exactMatch http://identifiers.org/omim/302600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844885

[Term]
id: MONDO:0010549
name: Charcot-Marie-Tooth disease X-linked dominant 1
def: "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." [NCIT:C129068]
subset: ordo_disease {source="Orphanet:101075"}
synonym: "Charcot Marie Tooth disease X-linked 1" EXACT [GARD:0001258]
synonym: "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [DOID:0110209, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1" EXACT [MONDO:Lexical, OMIM:302800]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1; CMTX1" EXACT [OMIM:302800]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 1" EXACT [MONDORULE:1, OMIM:302800]
synonym: "Charcot-Marie-Tooth disease, X-linked, 1" EXACT [GARD:0001258]
synonym: "Charcot-Marie-Tooth neuropathy X type 1" EXACT [NCIT:C129068]
synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [DOID:0110209]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked, 1" EXACT [OMIM:302800]
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" RELATED [OMIM:302800]
synonym: "CMT1X" RELATED [DOID:0110209, Orphanet:101075]
synonym: "CMT2" BROAD [OMIM:302800]
synonym: "CMT2, formerly" BROAD [OMIM:302800]
synonym: "CMTX" BROAD [OMIM:302800]
synonym: "CMTX 1" EXACT [GARD:0001258]
synonym: "CMTX1" EXACT [DOID:0110209, MONDO:Lexical, OMIM:302800, Orphanet:101075]
synonym: "GJB1 Charcot-Marie-Tooth disease type X" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [OMIM:302800]
synonym: "HMSN, X-linked" BROAD [OMIM:302800]
synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209]
xref: DOID:0110209 {source="MONDO:equivalentTo"}
xref: GARD:0001258 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="DOID:0110209", source="ORDO:101075/attributed", source="ORDO:101075/ntbt", source="Orphanet:101075"}
xref: NCIT:C129068 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:302800 {source="MONDO:equivalentTo", source="DOID:0110209", source="ORDO:101075/e", source="Orphanet:101075"}
xref: Orphanet:101075 {source="MONDO:equivalentTo", source="DOID:0110209", source="OMIM:302800"}
xref: SCTID:763455008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393808 {source="NCIT:C129068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302800", source="ORDO:101075/e", source="Orphanet:101075"}
is_a: MONDO:0018994 {source="DOID:0110209", source="MONDO:Redundant", source="MONDOLEX:0010549", source="Orphanet:101075"} ! Charcot-Marie-Tooth disease type X
property_value: exactMatch DOID:0110209
property_value: exactMatch http://identifiers.org/mesh/C535919
property_value: exactMatch http://identifiers.org/omim/302800
property_value: exactMatch http://identifiers.org/snomedct/763455008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393808
property_value: exactMatch NCIT:C129068
property_value: exactMatch Orphanet:101075

[Term]
id: MONDO:0010550
name: Charcot-Marie-Tooth disease X-linked recessive 2
def: "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." [Orphanet:101076]
subset: ordo_disease {source="Orphanet:101076"}
synonym: "Charcot Marie Tooth disease X-linked recessive 2" EXACT [GARD:0001243]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [DOID:0110208, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 2" EXACT [MONDO:Lexical, OMIM:302801]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 2; CMTX2" EXACT [OMIM:302801]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 2" EXACT [DOID:0110208]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" EXACT [OMIM:302801]
synonym: "CMTX 2" EXACT [GARD:0001243]
synonym: "CMTX2" EXACT [DOID:0110208, MONDO:Lexical, OMIM:302801, Orphanet:101076]
synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208]
xref: DOID:0110208 {source="MONDO:equivalentTo"}
xref: GARD:0001243 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="DOID:0110208", source="ORDO:101076/attributed", source="ORDO:101076/ntbt", source="Orphanet:101076"}
xref: MESH:C535302 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302801 {source="DOID:0110208", source="MONDO:equivalentTo", source="Orphanet:101076", source="ORDO:101076/e"}
xref: Orphanet:101076 {source="DOID:0110208", source="MONDO:equivalentTo", source="OMIM:302801"}
xref: SCTID:763457000 {source="MONDO:equivalentTo"}
xref: UMLS:C1844873 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302801", source="Orphanet:101076"}
is_a: MONDO:0018994 {source="DOID:0110208", source="MONDOLEX:0010550", source="Orphanet:101076"} ! Charcot-Marie-Tooth disease type X
property_value: exactMatch DOID:0110208
property_value: exactMatch http://identifiers.org/mesh/C535302
property_value: exactMatch http://identifiers.org/omim/302801
property_value: exactMatch http://identifiers.org/snomedct/763457000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844873
property_value: exactMatch Orphanet:101076

[Term]
id: MONDO:0010551
name: Charcot-Marie-Tooth disease X-linked recessive 3
def: "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." [Orphanet:101077]
subset: ordo_disease {source="Orphanet:101077"}
synonym: "Charcot Marie Tooth disease X-linked recessive 3" EXACT [GARD:0001244]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [DOID:0110211, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 3" EXACT [MONDO:Lexical, OMIM:302802]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 3; CMTX3" EXACT [OMIM:302802]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 3" EXACT [DOID:0110211]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3" EXACT [OMIM:302802]
synonym: "CMT3X" EXACT [DOID:0110211, Orphanet:101077]
synonym: "CMTX 3" EXACT [GARD:0001244]
synonym: "CMTX3" EXACT [DOID:0110211, MONDO:Lexical, OMIM:302802, Orphanet:101077]
synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211]
xref: DOID:0110211 {source="MONDO:equivalentTo"}
xref: GARD:0001244 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:101077", source="DOID:0110211", source="ORDO:101077/attributed", source="ORDO:101077/ntbt"}
xref: MESH:C535303 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="DOID:0110211", source="ORDO:101077/e"}
xref: Orphanet:101077 {source="MONDO:equivalentTo", source="DOID:0110211", source="OMIM:302802"}
xref: SCTID:763458005 {source="MONDO:equivalentTo"}
xref: UMLS:C1844865 {source="Orphanet:101077", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302802"}
is_a: MONDO:0018994 {source="DOID:0110211", source="MONDOLEX:0010551", source="Orphanet:101077"} ! Charcot-Marie-Tooth disease type X
property_value: exactMatch DOID:0110211
property_value: exactMatch http://identifiers.org/mesh/C535303
property_value: exactMatch http://identifiers.org/omim/302802
property_value: exactMatch http://identifiers.org/snomedct/763458005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844865
property_value: exactMatch Orphanet:101077

[Term]
id: MONDO:0010552
name: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" EXACT [OMIM:302803]
xref: MESH:C538077 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302803 {source="MONDO:equivalentTo"}
xref: UMLS:C1844864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302803"}
is_a: MONDO:0003847 {source="MESH:C538077/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538077
property_value: exactMatch http://identifiers.org/omim/302803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844864

[Term]
id: MONDO:0010553
name: Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" EXACT [OMIM:302900]
xref: MESH:C564446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302900 {source="MONDO:equivalentTo"}
xref: UMLS:C1844863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302900"}
is_a: MONDO:0003847 {source="MESH:C564446/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564446
property_value: exactMatch http://identifiers.org/omim/302900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844863

[Term]
id: MONDO:0010554
name: Abruzzo-Erickson syndrome
def: "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma (see this term), hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis (see this term)." [Orphanet:921]
subset: gard_rare {source="GARD:0000360"}
subset: ordo_malformation_syndrome {source="Orphanet:921"}
synonym: "ABERS" EXACT [MONDO:Lexical, OMIM:302905]
synonym: "Abruzzo-Erickson syndrome" EXACT [MONDO:Lexical, OMIM:302905]
synonym: "Abruzzo-Erickson syndrome; ABERS" RELATED [OMIM:302905]
synonym: "CHARGE like syndrome X-linked" RELATED [GARD:0000360]
synonym: "CHARGE-like syndrome" EXACT [Orphanet:921]
synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905]
synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921]
xref: GARD:0000360 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:921", source="ORDO:921/attributed", source="ORDO:921/ntbt"}
xref: MESH:C535559 {source="ORDO:921/e", source="Orphanet:921", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:302905 {source="ORDO:921/e", source="Orphanet:921", source="MONDO:equivalentTo"}
xref: Orphanet:921 {source="OMIM:302905", source="MONDO:equivalentTo"}
xref: SCTID:718574003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.03"}
xref: UMLS:C1844862 {source="ORDO:921/e", source="OMIM:302905", source="NCBI:mim2gene_medline", source="Orphanet:921", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:921"} ! orofacial clefting syndrome
is_a: MONDO:0015620 {source="Orphanet:921"} ! syndromic urogenital tract malformation
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:921"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535559
property_value: exactMatch http://identifiers.org/omim/302905
property_value: exactMatch http://identifiers.org/snomedct/718574003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844862
property_value: exactMatch Orphanet:921
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome xsd:anyURI {source="GARD:0000360"}

[Term]
id: MONDO:0010555
name: X-linked chondrodysplasia punctata 1
def: "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." [Orphanet:79345]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:79345"}
subset: prototype_pattern
synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "arse X-linked chondrodysplasia punctata" EXACT [MONDO:design_pattern]
synonym: "arylsulfatase E deficiency" RELATED [GARD:0001296]
synonym: "brachytelephalangic chondrodysplasia punctata" EXACT [Orphanet:79345]
synonym: "CDPX1" RELATED [GARD:0001296, MONDO:Lexical, OMIM:302950]
synonym: "chondrodysplasia punctata 1 X-linked recessive" RELATED [GARD:0001296]
synonym: "chondrodysplasia punctata 1, X-linked recessive" RELATED [MONDO:Lexical, OMIM:302950]
synonym: "chondrodysplasia punctata 1, X-linked recessive; CDPX1" RELATED [OMIM:302950]
synonym: "chondrodysplasia punctata brachytelephalangic" RELATED [GARD:0001296]
synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [OMIM:302950]
synonym: "chondrodysplasia punctata, brachytelephalangic" RELATED [GARD:0001296]
synonym: "CPXR" RELATED [GARD:0001296]
synonym: "Cpxr" RELATED [OMIM:302950]
synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT []
synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern]
xref: GARD:0001296 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:79345/attributed", source="ORDO:79345/ntbt", source="Orphanet:79345"}
xref: OMIM:302950 {source="MONDO:equivalentTo", source="ORDO:79345/e", source="GARD:0001296", source="Orphanet:79345"}
xref: Orphanet:79345 {source="MONDO:equivalentTo", source="OMIM:302950", source="GARD:0001296"}
xref: UMLS:C1844853 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302950", source="ORDO:79345/e", source="Orphanet:79345"}
xref: UMLS:C3669395 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punctata
is_a: MONDO:0019602 {source="Orphanet:79345"} ! other inborn metabolic disease
property_value: exactMatch http://identifiers.org/mesh/C535941
property_value: exactMatch http://identifiers.org/omim/302950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844853
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3669395
property_value: exactMatch Orphanet:79345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive xsd:anyURI {source="GARD:0001296"}

[Term]
id: MONDO:0010556
name: X-linked chondrodysplasia punctata
def: "X-linked form of chondrodysplasia punctata." [MONDO:patterns/x_linked]
subset: gard_rare
subset: ordo_disease {source="Orphanet:35173"}
subset: prototype_pattern
synonym: "chondrodysplasia punctata, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "chondrodysplasia punctata, X-linked dominant" RELATED [GARD:0006189]
synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292, Orphanet:35173]
synonym: "CPXD" EXACT [GARD:0006189, Orphanet:35173]
synonym: "X-linked dominant chondrodysplasia punctata" RELATED [Orphanet:35173]
xref: DOID:0060292 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:35173/attributed", source="ORDO:35173/ntbt", source="Orphanet:35173", source="DOID:0060292"}
xref: UMLS:C0263627 {source="ORDO:35173/e", source="MONDO:equivalentTo", source="Orphanet:35173"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019240 {source="Orphanet:35173"} ! sterol biosynthesis disorder
is_a: MONDO:0020232 {source="Orphanet:35173"} ! musculoskeletal disease with cataract
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/mesh/C002806
property_value: exactMatch DOID:0060292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263627

[Term]
id: MONDO:0010557
name: choroideremia
def: "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." [Orphanet:180]
subset: gard_rare {source="GARD:0006061"}
subset: ordo_disease {source="Orphanet:180"}
synonym: "CHM" EXACT [MONDO:Lexical, OMIM:303100, Orphanet:180]
synonym: "choroidal sclerosis" RELATED [OMIM:303100]
synonym: "choroideremia" EXACT [MONDO:Lexical, OMIM:303100]
synonym: "choroideremia; CHM" RELATED [OMIM:303100]
synonym: "progressive choroidal atrophy" EXACT [DOID:9821, NCIT:C34469]
synonym: "progressive tapetochoroidal dystrophy" RELATED [GARD:0006061]
synonym: "Tapetochoroidal dystrophy" EXACT [Orphanet:180]
synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100]
synonym: "TCD" RELATED [GARD:0006061]
xref: DOID:9821 {source="MONDO:equivalentTo"}
xref: GARD:0006061 {source="MONDO:equivalentTo"}
xref: ICD10:H31.2 {source="Orphanet:180", source="ORDO:180/inclusion", source="ORDO:180/ntbt"}
xref: ICD10:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"}
xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008791 {source="ORDO:180/e", source="Orphanet:180"}
xref: MESH:D015794 {source="DOID:9821", source="ORDO:180/e", source="Orphanet:180", source="MONDO:equivalentTo"}
xref: NCIT:C34469 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:303100 {source="DOID:9821", source="ORDO:180/e", source="Orphanet:180", source="MONDO:equivalentTo"}
xref: Orphanet:180 {source="OMIM:303100", source="MONDO:equivalentTo"}
xref: SCTID:75241009 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0008525 {source="DOID:9821", source="OMIM:303100", source="ORDO:180/e", source="Orphanet:180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34469"}
is_a: MONDO:0000425 {source="MESH:D015794", source="MONDO:Redundant", source="linkedlifedata"} ! X-linked disease
is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic choroid disease
is_a: MONDO:0020241 {source="Orphanet:180"} ! unclassified familial retinal dystrophy
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344297
property_value: exactMatch DOID:9821
property_value: exactMatch http://identifiers.org/meddra/10008791
property_value: exactMatch http://identifiers.org/mesh/D015794
property_value: exactMatch http://identifiers.org/omim/303100
property_value: exactMatch http://identifiers.org/snomedct/75241009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008525
property_value: exactMatch NCIT:C34469
property_value: exactMatch Orphanet:180
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6061/choroideremia xsd:anyURI {source="GARD:0006061"}

[Term]
id: MONDO:0010558
name: choroideremia-deafness-obesity syndrome
def: "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." [Orphanet:1435]
subset: ordo_malformation_syndrome {source="Orphanet:1435"}
synonym: "Ayazi syndrome" EXACT [Orphanet:1435]
synonym: "choroideremia deafness obesity" RELATED [GARD:0000369]
synonym: "choroideremia, deafness, and mental retardation" RELATED [OMIM:303110]
synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369]
synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110]
xref: GARD:0000369 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1435/attributed", source="ORDO:1435/ntbt", source="Orphanet:1435"}
xref: MESH:C537793 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="ORDO:1435/e"}
xref: Orphanet:1435 {source="OMIM:303110", source="MONDO:equivalentTo"}
xref: SCTID:717761005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.37"}
xref: UMLS:C1844836 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1435"}
is_a: MONDO:0016565 {source="Orphanet:1435"} ! syndromic genetic obesity
is_a: MONDO:0019589 {source="Orphanet:1435"} ! syndromic genetic deafness
is_a: MONDO:0020241 {source="Orphanet:1435"} ! unclassified familial retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551019
property_value: exactMatch http://identifiers.org/mesh/C537793
property_value: exactMatch http://identifiers.org/omim/303110
property_value: exactMatch http://identifiers.org/snomedct/717761005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844836
property_value: exactMatch Orphanet:1435

[Term]
id: MONDO:0010559
name: MASA syndrome
def: "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." [Orphanet:2466]
subset: ordo_clinical_subtype {source="Orphanet:2466"}
synonym: "adducted thumb with mental retardation" RELATED [OMIM:303350]
synonym: "Clasped thumb and mental retardation" RELATED [OMIM:303350]
synonym: "crash syndrome" EXACT [DOID:0060246]
synonym: "Gareis-Mason syndrome" EXACT [DOID:0060246, OMIM:303350]
synonym: "hereditary spastic paraplegia 1" EXACT [DOID:0060246]
synonym: "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome" EXACT [Orphanet:2466]
synonym: "L1 syndrome" EXACT EXCLUDE [DOID:0060246]
synonym: "MASA syndrome" EXACT [OMIM:303350]
synonym: "mental retardation aphasia shuffling Gait adducted thumbs (MASA)" RELATED [GARD:0006986]
synonym: "mental retardation, aphasia, shuffling Gait, and adducted thumbs" RELATED [OMIM:303350]
synonym: "spastic paraplegia 1" RELATED [GARD:0006986]
synonym: "spastic paraplegia 1, X-linked" RELATED [OMIM:303350]
synonym: "spastic paraplegia, X-linked" EXACT [NCIT:C129930]
synonym: "SPG1" EXACT EXCLUDE [DOID:0060246]
synonym: "thumb congenital clasped with mental retardation" RELATED [GARD:0006986]
synonym: "thumb, congenital Clasped, with mental retardation" RELATED [OMIM:303350]
synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [DOID:0060246]
synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246]
synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246]
xref: DOID:0060246 {source="MONDO:equivalentTo"}
xref: GARD:0006986 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0060246", source="Orphanet:2466", source="ORDO:2466/attributed", source="ORDO:2466/ntbt"}
xref: NCIT:C129930 {source="MONDO:kboom-pr-0.90/0.76/0.43", source="MONDO:equivalentTo"}
xref: OMIM:303350 {source="ORDO:2466/e", source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo"}
xref: Orphanet:2466 {source="DOID:0060246", source="MONDO:equivalentTo", source="OMIM:303350"}
xref: SCTID:716996008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.69/0.23"}
xref: UMLS:C0795953 {source="ORDO:2466/e", source="DOID:0060246", source="NCBI:mim2gene_medline", source="Orphanet:2466", source="MONDO:equivalentTo", source="NCIT:C129930", source="OMIM:303350"}
is_a: MONDO:0017140 {source="Orphanet:2466", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
is_a: MONDO:0020339 {source="Orphanet:2466"} ! X-linked complex spastic paraplegia
property_value: exactMatch DOID:0060246
property_value: exactMatch http://identifiers.org/mesh/C536029
property_value: exactMatch http://identifiers.org/omim/303350
property_value: exactMatch http://identifiers.org/snomedct/716996008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795953
property_value: exactMatch NCIT:C129930
property_value: exactMatch Orphanet:2466

[Term]
id: MONDO:0010560
name: cleft palate with or without ankyloglossia, X-linked
subset: gard_rare
synonym: "cleft palate with or without ankyloglossia, X-linked" EXACT [MESH:C536426, MONDO:Lexical, OMIM:303400]
synonym: "cleft palate with or without ankyloglossia, X-linked; CPX" RELATED [OMIM:303400]
synonym: "cleft palate X-linked" RELATED [GARD:0001394]
synonym: "cleft palate, X-linked" RELATED [MESH:C536426]
synonym: "CPX" RELATED [GARD:0001394, MESH:C536426, MONDO:Lexical, OMIM:303400]
synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426]
xref: GARD:0001394 {source="MONDO:equivalentTo"}
xref: MESH:C536426 {source="MONDO:equivalentTo"}
xref: OMIM:303400 {source="MONDO:equivalentTo", source="GARD:0001394"}
is_a: MONDO:0016064 {source="DC-OMIM:303400", source="MESH:C536426"} ! cleft palate
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844830
property_value: exactMatch http://identifiers.org/mesh/C536426
property_value: exactMatch http://identifiers.org/omim/303400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked xsd:anyURI {source="GARD:0001394"}

[Term]
id: MONDO:0010561
name: Coffin-Lowry syndrome
def: "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." [Orphanet:192]
subset: gard_rare {source="GARD:0006123"}
subset: ordo_malformation_syndrome {source="Orphanet:192"}
synonym: "CLS" EXACT [MONDO:Lexical, OMIM:303600, Orphanet:192]
synonym: "Coffin syndrome" RELATED [GARD:0006123]
synonym: "Coffin syndrome 1" RELATED [GARD:0008589]
synonym: "Coffin-Lowry syndrome" EXACT [MONDO:Lexical, OMIM:303600]
synonym: "COFFIN-Lowry syndrome; CLS" RELATED [OMIM:303600]
synonym: "dwarfism, lean spastic type" RELATED [GARD:0008589, MESH:C536435]
synonym: "lean spastic dwarfism" RELATED [GARD:0008589, MESH:C536435]
synonym: "mental retardation with osteocartilaginous abnormalities" RELATED [GARD:0006123]
xref: DOID:3783 {source="MONDO:equivalentTo"}
xref: GARD:0006123 {source="MONDO:equivalentTo"}
xref: GARD:0008589 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:192", source="ORDO:192/attributed", source="ORDO:192/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536435 {source="MONDO:equivalentTo"}
xref: MESH:D038921 {source="ORDO:192/e", source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="MONDO:ontobio"}
xref: NCIT:C84643 {source="DOID:3783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.85/1.45"}
xref: OMIM:303600 {source="ORDO:192/e", source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192"}
xref: Orphanet:192 {source="MONDO:equivalentTo", source="OMIM:303600"}
xref: SCTID:15182000 {source="DOID:3783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265252 {source="ORDO:192/e", source="DOID:3783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:303600", source="Orphanet:192", source="NCIT:C84643"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005027 {source="MESH:C536435", source="MONDO:Redundant"} ! epilepsy
is_a: MONDO:0005392 {source="MESH:C536435"} ! scoliosis
is_a: MONDO:0016565 {source="Orphanet:192"} ! syndromic genetic obesity
is_a: MONDO:0020119 {source="Orphanet:192"} ! X-linked syndromic intellectual disability
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536435", source="MESH:D038921/inferred", source="MONDO:Redundant", source="indirect"} ! intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795900
property_value: exactMatch DOID:3783
property_value: exactMatch http://identifiers.org/mesh/C536435
property_value: exactMatch http://identifiers.org/mesh/D038921
property_value: exactMatch http://identifiers.org/omim/303600
property_value: exactMatch http://identifiers.org/snomedct/15182000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265252
property_value: exactMatch NCIT:C84643
property_value: exactMatch Orphanet:192
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome xsd:anyURI {source="GARD:0006123"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 xsd:anyURI {source="GARD:0008589"}

[Term]
id: MONDO:0010562
name: colonic atresia (disease)
def: "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." [Orphanet:1198]
subset: ordo_morphological_anomaly {source="Orphanet:1198"}
synonym: "atresia of colon" EXACT [NCIT:C101024]
synonym: "colon atresia" EXACT [NCIT:C101024]
synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650]
synonym: "congenital atresia of colon" EXACT [NCIT:C101024]
xref: GARD:0001446 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0010448 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q42.9 {source="Orphanet:1198", source="ORDO:1198/attributed", source="ORDO:1198/ntbt"}
xref: MESH:C562562 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C101024 {source="MONDO:equivalentTo"}
xref: OMIM:303650 {source="Orphanet:1198", source="ORDO:1198/e", source="MONDO:equivalentTo"}
xref: Orphanet:1198 {source="OMIM:303650", source="MONDO:equivalentTo"}
xref: SCTID:37054000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37"}
is_a: MONDO:0015211 {source="Orphanet:1198"} ! non-syndromic intestinal malformation
property_value: exactMatch http://identifiers.org/mesh/C562562
property_value: exactMatch http://identifiers.org/omim/303650
property_value: exactMatch http://identifiers.org/snomedct/37054000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266190
property_value: exactMatch NCIT:C101024
property_value: exactMatch Orphanet:1198

[Term]
id: MONDO:0010563
name: blue cone monochromacy
def: "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." [Orphanet:16]
subset: gard_rare
subset: ordo_disease {source="Orphanet:16"}
synonym: "achromatopsia incomplete X-linked" RELATED [GARD:0000917]
synonym: "atypical X-linked achromatopsia" EXACT [Orphanet:16]
synonym: "BCM" RELATED [GARD:0000917, MONDO:Lexical, OMIM:303700]
synonym: "blue cone monochromacy" EXACT [MONDO:Lexical, OMIM:303700, Orphanet:16]
synonym: "blue cone monochromacy; BCM" RELATED [OMIM:303700]
synonym: "blue cone monochromatism" EXACT [MONDO:0015563, OMIM:303700]
synonym: "CBBM" RELATED [GARD:0000917]
synonym: "color blindness blue mono cone monochromatic type" RELATED [GARD:0000917]
synonym: "color blindness, blue monocone monochromatic type" EXACT [Orphanet:16]
synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [OMIM:303700]
synonym: "cone dystrophy 5, X-linked" RELATED [OMIM:303700]
synonym: "incomplete achromatopsia X-linked" RELATED [GARD:0000917]
synonym: "S cone monochromacy" EXACT [Orphanet:16]
synonym: "S cone monochromatism" EXACT [Orphanet:16]
synonym: "X-chromosome-linked achromatopsia" RELATED [GARD:0000917]
synonym: "X-linked achromatopsia incomplete" RELATED [GARD:0000917]
synonym: "X-linked incomplete achromatopsia" EXACT [Orphanet:16]
xref: DOID:0050679 {source="MONDO:equivalentTo"}
xref: GARD:0000917 {source="MONDO:equivalentTo"}
xref: ICD10:H53.5 {source="ORDO:16/ntbt", source="Orphanet:16", source="ORDO:16/inclusion"}
xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="ORDO:16/e"}
xref: OMIM:303700 {source="GARD:0000917", source="MONDO:equivalentTo", source="Orphanet:16", source="ORDO:16/e"}
xref: Orphanet:16 {source="GARD:0000917", source="MONDO:equivalentTo", source="OMIM:303700"}
xref: SCTID:24704003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.03"}
xref: UMLS:CN036572 {source="MONDO:equivalentTo"}
is_a: MONDO:0018852 {source="DOID:0050679", source="MONDOLEX:0010563"} ! achromatopsia
is_a: MONDO:0020605 ! X-linked recessive disease
is_a: MONDO:0021155 ! X-linked cone-rod dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415024
property_value: exactMatch DOID:0050679
property_value: exactMatch http://identifiers.org/mesh/C536238
property_value: exactMatch http://identifiers.org/mesh/C538165
property_value: exactMatch http://identifiers.org/omim/303700
property_value: exactMatch http://identifiers.org/snomedct/24704003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931753
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036572
property_value: exactMatch Orphanet:16
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism xsd:anyURI {source="GARD:0000917"}

[Term]
id: MONDO:0010564
name: red-green color blindness
def: "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." [EFO:0005581]
synonym: "CBD" RELATED [MONDO:Lexical, OMIM:303800]
synonym: "colorblindness, partial, DEUTAN series" RELATED [MONDO:Lexical, OMIM:303800]
synonym: "colorblindness, partial, DEUTAN series; CBD" RELATED [OMIM:303800]
synonym: "Deutan colorblindness" RELATED [OMIM:303800]
synonym: "Deutan defect" EXACT [DOID:13909, ICD9CM_2006:368.52]
synonym: "Deuteranomaly" RELATED [OMIM:303800]
synonym: "deuteranopia" EXACT [DOID:13909, MTHICD9_2006:368.52, OMIM:303800]
synonym: "Green colorblindness" RELATED [OMIM:303800]
synonym: "reduced red-green discrimination" EXACT [DOID:13909]
xref: DOID:13909 {source="MONDO:equivalentTo", source="EFO:0005581"}
xref: EFO:0005581 {source="MONDO:equivalentTo"}
xref: ICD10:H53.53 {source="MONDO:equivalentTo", source="DOID:13909"}
xref: ICD9:368.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13909", source="EFO:0005581"}
xref: OMIM:303800 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"}
xref: SCTID:77479002 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155016 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:303800", source="DOID:13909"}
is_a: MONDO:0000014 {source="DC-OMIM:303800"} ! colorblindness, partial
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://identifiers.org/snomedct/246674000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415024
property_value: closeMatch Orphanet:319698
property_value: exactMatch DOID:13909
property_value: exactMatch http://identifiers.org/omim/303800
property_value: exactMatch http://identifiers.org/snomedct/77479002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155016

[Term]
id: MONDO:0010565
name: red color blindness
def: "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." [EFO:0005580]
synonym: "CBP" RELATED [MONDO:Lexical, OMIM:303900]
synonym: "colorblindness, partial, protan series" RELATED [MONDO:Lexical, OMIM:303900]
synonym: "colorblindness, partial, protan series; CBP" RELATED [OMIM:303900]
synonym: "protan defect" EXACT [DOID:13910, ICD9CM_2006:368.51]
synonym: "protanomaly" RELATED [OMIM:303900]
synonym: "protanopia" EXACT [DOID:13910, MTHICD9_2006:368.51, OMIM:303900]
synonym: "red colorblindness" RELATED [OMIM:303900]
xref: DOID:13910 {source="MONDO:equivalentTo", source="EFO:0005580"}
xref: EFO:0005580 {source="MONDO:equivalentTo"}
xref: ICD10:H53.54 {source="DOID:13910", source="MONDO:equivalentTo"}
xref: ICD9:368.51 {source="DOID:13910", source="MONDO:equivalentTo", source="i2s", source="EFO:0005580"}
xref: OMIM:303900 {source="DOID:13910", source="MONDO:equivalentTo"}
xref: SCTID:51445007 {source="DOID:13910", source="MONDO:equivalentTo", source="EFO:0005580", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001703 {source="MONDO:cjm"} ! color vision disorder
is_a: MONDO:0005328 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred", source="OWLReasoner:2017", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155015
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1419325
property_value: closeMatch Orphanet:319691
property_value: exactMatch DOID:13910
property_value: exactMatch http://identifiers.org/omim/303900
property_value: exactMatch http://identifiers.org/snomedct/51445007

[Term]
id: MONDO:0010566
name: X-linked cone-rod dystrophy 1
subset: gard_rare {source="GARD:0010652"}
synonym: "COD1" EXACT [DOID:0111008]
synonym: "cone dystrophy 1, X-linked" RELATED [OMIM:304020]
synonym: "cone dystrophy X-linked 1" RELATED [GARD:0010652]
synonym: "cone-rod dystrophy X-linked 1" RELATED [GARD:0010652]
synonym: "cone-rod dystrophy, X-linked, 1" RELATED [MONDO:Lexical, OMIM:304020]
synonym: "cone-rod dystrophy, X-linked, 1; CORDX1" RELATED [OMIM:304020]
synonym: "cone-rod dystrophy, X-linked, type 1" EXACT [MONDORULE:1, OMIM:304020]
synonym: "CORDX1" EXACT [DOID:0111008, MONDO:Lexical, OMIM:304020]
synonym: "X-linked cone dystrophy 1" EXACT [DOID:0111008]
synonym: "X-linked cone-rod dystrophy type 1" EXACT [DOID:0111008, MONDORULE:1]
xref: DOID:0111008 {source="MONDO:equivalentTo"}
xref: GARD:0010652 {source="MONDO:equivalentTo"}
xref: MESH:C564438 {source="MONDO:equivalentTo"}
xref: OMIM:304020 {source="DOID:0111008", source="MONDO:equivalentTo"}
is_a: MONDO:0021155 ! X-linked cone-rod dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844776
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844777
property_value: exactMatch DOID:0111008
property_value: exactMatch http://identifiers.org/mesh/C564438
property_value: exactMatch http://identifiers.org/omim/304020
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1 xsd:anyURI {source="GARD:0010652"}

[Term]
id: MONDO:0010567
name: cone dystrophy, X-linked, with tapetal-like sheen
subset: gard_rare {source="GARD:0010119"}
synonym: "cone dystrophy X-linked with tapetal-like sheen" RELATED [GARD:0010119]
synonym: "cone dystrophy, X-linked, with tapetal-like sheen" EXACT [OMIM:304030]
synonym: "X-linked recessive cone dystrophy with tapetal-like sheen" RELATED [GARD:0010119]
xref: GARD:0010119 {source="MONDO:equivalentTo"}
xref: MESH:C535975 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304030 {source="MONDO:equivalentTo"}
xref: UMLS:C1844775 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:304030"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0000455 ! cone dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535975
property_value: exactMatch http://identifiers.org/omim/304030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844775
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen xsd:anyURI {source="GARD:0010119"}

[Term]
id: MONDO:0010568
name: Aicardi syndrome
def: "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." [Orphanet:50]
subset: gard_rare {source="GARD:0005764"}
subset: ordo_disease {source="Orphanet:50"}
synonym: "agenesis of corpus callosum with chorioretinal abnormality" EXACT [Orphanet:50]
synonym: "AIC" RELATED [MONDO:Lexical, OMIM:304050]
synonym: "Aicardi syndrome" EXACT [MONDO:Lexical, OMIM:304050]
synonym: "Aicardi syndrome; AIC" RELATED [OMIM:304050]
synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orphanet:50]
synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED [OMIM:304050]
xref: DOID:8461 {source="MONDO:equivalentTo"}
xref: GARD:0005764 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.0 {source="Orphanet:50", source="ORDO:50/attributed", source="ORDO:50/ntbt"}
xref: MedDRA:10054935 {source="Orphanet:50", source="ORDO:50/e"}
xref: MESH:D058540 {source="MONDO:equivalentTo", source="DOID:8461", source="MONDO:ontobio", source="Orphanet:50", source="ORDO:50/e"}
xref: NCIT:C35256 {source="MONDO:kboom-pr-1.00/0.85/15.87", source="MONDO:equivalentTo", source="DOID:8461"}
xref: OMIM:304050 {source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"}
xref: Orphanet:50 {source="MONDO:equivalentTo", source="OMIM:304050", source="DOID:8461"}
xref: SCTID:80651009 {source="MONDO:equivalentTo", source="DOID:8461", source="MONDO:kboom-pr-1.00/0.74/6.35"}
xref: UMLS:C0175713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35256", source="OMIM:304050", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"}
is_a: MONDO:0015655 {source="Orphanet:50"} ! cerebral malformation with epilepsy
is_a: MONDO:0015945 {source="Orphanet:50"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017122 {source="Orphanet:50"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0020262 {source="Orphanet:50"} ! nervous system anomaly with eye involvement
relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:50"} ! syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:8461
property_value: exactMatch http://identifiers.org/meddra/10054935
property_value: exactMatch http://identifiers.org/mesh/D058540
property_value: exactMatch http://identifiers.org/omim/304050
property_value: exactMatch http://identifiers.org/snomedct/80651009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175713
property_value: exactMatch NCIT:C35256
property_value: exactMatch Orphanet:50
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome xsd:anyURI {source="GARD:0005764"}

[Term]
id: MONDO:0010569
name: X-linked complicated corpus callosum dysgenesis
def: "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." [Orphanet:1497]
subset: ordo_clinical_subtype {source="Orphanet:1497"}
synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [OMIM:304100]
synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526]
synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526]
synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526]
xref: GARD:0012526 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.8 {source="Orphanet:1497", source="ORDO:1497/attributed", source="ORDO:1497/ntbt"}
xref: MESH:C564115 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304100 {source="Orphanet:1497", source="ORDO:1497/e", source="MONDO:equivalentTo"}
xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"}
xref: UMLS:C1839909 {source="OMIM:304100", source="Orphanet:1497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017140 {source="Orphanet:1497", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
property_value: exactMatch http://identifiers.org/mesh/C564115
property_value: exactMatch http://identifiers.org/omim/304100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839909
property_value: exactMatch Orphanet:1497

[Term]
id: MONDO:0010570
name: craniofrontonasal syndrome
def: "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." [Orphanet:1520]
subset: ordo_malformation_syndrome {source="Orphanet:1520"}
synonym: "CFND" EXACT [Orphanet:1520]
synonym: "CFNS" EXACT [MONDO:Lexical, OMIM:304110, Orphanet:1520]
synonym: "craniofrontonasal dysostosis" RELATED [OMIM:304110]
synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110]
synonym: "craniofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:304110, Orphanet:1520]
synonym: "craniofrontonasal syndrome; CFNS" RELATED [OMIM:304110]
xref: DOID:14737 {source="MONDO:equivalentTo"}
xref: GARD:0001578 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:1520", source="ORDO:1520/attributed", source="ORDO:1520/ntbt"}
xref: MESH:C536456 {source="DOID:14737", source="ORDO:1520/e", source="Orphanet:1520", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304110 {source="DOID:14737", source="ORDO:1520/e", source="Orphanet:1520", source="MONDO:equivalentTo"}
xref: Orphanet:1520 {source="OMIM:304110", source="MONDO:equivalentTo"}
xref: SCTID:715421009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0220767 {source="OMIM:304110", source="DOID:14737", source="MEDGEN:kboom-pr98-c99", source="ORDO:1520/e", source="NCBI:mim2gene_medline", source="Orphanet:1520", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016643 {source="Orphanet:1520"} ! frontonasal dysplasia
is_a: MONDO:0018237 {source="Orphanet:1520"} ! acrofacial dysostosis
is_a: MONDO:0020119 {source="Orphanet:1520"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
property_value: exactMatch DOID:14737
property_value: exactMatch http://identifiers.org/mesh/C536456
property_value: exactMatch http://identifiers.org/omim/304110
property_value: exactMatch http://identifiers.org/snomedct/715421009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220767
property_value: exactMatch Orphanet:1520

[Term]
id: MONDO:0010571
name: otopalatodigital syndrome type 2
def: "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder (see this term), and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." [Orphanet:90652]
subset: ordo_clinical_subtype {source="Orphanet:90652"}
synonym: "Andre syndrome" RELATED [GARD:0005802]
synonym: "cranio-oro-digital syndrome" RELATED [GARD:0005802]
synonym: "cranioorodigital syndrome" RELATED [OMIM:304120]
synonym: "faciopalatoosseous syndrome" RELATED [OMIM:304120]
synonym: "FPO" RELATED [GARD:0005802]
synonym: "OPD 2 syndrome" EXACT [OMIM:304120]
synonym: "OPD II syndrome" EXACT [Orphanet:90652]
synonym: "OPD syndrome 2" EXACT [OMIM:304120, Orphanet:90652]
synonym: "OPD2" RELATED [MONDO:Lexical, OMIM:304120]
synonym: "oto-palato-digital syndrome type 2" RELATED [GARD:0005802]
synonym: "otopalatodigital syndrome, type 2" RELATED [OMIM:304120]
synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:304120]
synonym: "otopalatodigital syndrome, type II; OPD2" RELATED [OMIM:304120]
xref: GARD:0005802 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:90652/attributed", source="ORDO:90652/ntbt", source="Orphanet:90652"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538089 {source="ORDO:90652/e", source="MONDO:equivalentTo", source="Orphanet:90652", source="MONDO:ontobio"}
xref: OMIM:304120 {source="ORDO:90652/e", source="MONDO:equivalentTo", source="Orphanet:90652"}
xref: Orphanet:90652 {source="MONDO:equivalentTo", source="OMIM:304120"}
xref: SCTID:42432003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0019027 {source="Orphanet:90652"} ! otopalatodigital syndrome
property_value: exactMatch http://identifiers.org/mesh/C538089
property_value: exactMatch http://identifiers.org/omim/304120
property_value: exactMatch http://identifiers.org/snomedct/42432003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844696
property_value: exactMatch Orphanet:90652

[Term]
id: MONDO:0010572
name: occipital horn syndrome
def: "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." [Orphanet:198]
subset: ordo_disease {source="Orphanet:198"}
synonym: "cutis laxa X-linked" RELATED [GARD:0004017]
synonym: "cutis laxa, X-linked" RELATED [OMIM:304150]
synonym: "cutis laxa, X-linked, formerly" RELATED [OMIM:304150]
synonym: "EDS IX" EXACT [Orphanet:198]
synonym: "EDS IX" RELATED [OMIM:304150]
synonym: "EDS IX (formerly)" RELATED [GARD:0004017]
synonym: "EDS IX, formerly" RELATED [OMIM:304150]
synonym: "EDS9" RELATED [OMIM:304150]
synonym: "EDS9, formerly" RELATED [OMIM:304150]
synonym: "Ehlers-Danlos syndrome type 9" EXACT [Orphanet:198]
synonym: "Ehlers-Danlos syndrome type IX" EXACT [Orphanet:198]
synonym: "Ehlers-Danlos syndrome, occipital horn type" RELATED [OMIM:304150]
synonym: "Ehlers-Danlos syndrome, occipital horn type (formerly)" RELATED [GARD:0004017]
synonym: "Ehlers-Danlos syndrome, occipital horn type, formerly" RELATED [OMIM:304150]
synonym: "occipital horn syndrome" EXACT [MONDO:Lexical, OMIM:304150]
synonym: "occipital horn syndrome; OHS" RELATED [OMIM:304150]
synonym: "OHS" RELATED [MONDO:Lexical, OMIM:304150]
synonym: "X-linked cutis laxa" EXACT [Orphanet:198]
xref: GARD:0004017 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.0 {source="ORDO:198/attributed", source="ORDO:198/ntbt", source="Orphanet:198"}
xref: MESH:C537860 {source="MONDO:equivalentTo", source="ORDO:198/e", source="MONDO:ontobio", source="Orphanet:198"}
xref: OMIM:304150 {source="MONDO:equivalentTo", source="ORDO:198/e", source="Orphanet:198"}
xref: Orphanet:198 {source="MONDO:equivalentTo", source="OMIM:304150"}
xref: SCTID:59399004 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016175 {source="MESH:C537860", source="Orphanet:198", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutis laxa
is_a: MONDO:0017762 {source="Orphanet:198", source="linkedlifedata"} ! disorder of copper metabolism
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:198"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1096660
property_value: exactMatch http://identifiers.org/mesh/C537860
property_value: exactMatch http://identifiers.org/omim/304150
property_value: exactMatch http://identifiers.org/snomedct/59399004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268353
property_value: exactMatch Orphanet:198

[Term]
id: MONDO:0010573
name: cutis verticis gyrata, thyroid aplasia, and mental retardation
synonym: "Akesson syndrome" RELATED [GARD:0000578]
synonym: "cutis verticis gyrata, thyroaplasia and mental deficiency syndrome" RELATED [GARD:0000578]
synonym: "cutis verticis gyrata, thyroid aplasia, and mental retardation" EXACT [OMIM:304200]
synonym: "cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome" EXACT [Orphanet:79482]
synonym: "cutis verticis gyrata-thyroid aplasia-mental retardation syndrome" RELATED [GARD:0000578]
xref: GARD:0000578 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535610 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304200 {source="MONDO:equivalentTo"}
xref: Orphanet:79482 {source="OMIM:304200", source="MONDO:equivalentTo"}
xref: UMLS:CN237776 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795848
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844682
property_value: exactMatch http://identifiers.org/mesh/C535610
property_value: exactMatch http://identifiers.org/omim/304200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237776
property_value: exactMatch Orphanet:79482

[Term]
id: MONDO:0010574
name: syndromic X-linked intellectual disability 5
def: "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." [Orphanet:1568]
comment: Editor note: check relationship to friend syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1568"}
synonym: "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" RELATED [GARD:0008520]
synonym: "fried syndrome" RELATED [DOID:0060800]
synonym: "mental retardation X-linked syndromic 5" RELATED [GARD:0008520]
synonym: "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED [GARD:0008520]
synonym: "mental retardation, X-linked 59" RELATED [OMIM:304340]
synonym: "mental retardation, X-linked syndromic 5" EXACT [DOID:0060800]
synonym: "mental retardation, X-linked, syndromic 21" RELATED [OMIM:304340]
synonym: "mental retardation, X-linked, syndromic 5" RELATED [OMIM:304340]
synonym: "mental retardation, X-linked, syndromic, fried type" RELATED [OMIM:304340]
synonym: "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED [OMIM:304340]
synonym: "MRX59" EXACT [DOID:0060800]
synonym: "MRXS21" EXACT [DOID:0060800]
synonym: "MRXS5" RELATED [GARD:0008520]
synonym: "PETTIGREW syndrome" RELATED [MONDO:Lexical, OMIM:304340]
synonym: "Pettigrew syndrome" EXACT [DOID:0060800]
synonym: "PETTIGREW syndrome; PGS" RELATED [OMIM:304340]
synonym: "PGS" RELATED [MONDO:Lexical, OMIM:304340]
synonym: "syndromic X-linked intellectual disability type 5" EXACT [DOID:0060800, MONDORULE:1]
synonym: "syndromic X-linked mental retardation 21" EXACT [DOID:0060800]
synonym: "syndromic X-linked mental retardation fried type" EXACT [DOID:0060800]
synonym: "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures" RELATED [GARD:0008520]
synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800]
synonym: "X-linked mental retardation 59" EXACT [DOID:0060800]
synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800]
xref: DOID:0060800 {source="MONDO:equivalentTo"}
xref: GARD:0008520 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q23.8 {source="ORDO:1568/attributed", source="ORDO:1568/ntbt", source="Orphanet:1568"}
xref: ICD10:Q87.8 {source="DOID:0060800"}
xref: NCIT:C124839 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:304340 {source="ORDO:1568/ntbt", source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568"}
xref: Orphanet:1568 {source="MONDO:equivalentTo", source="DOID:0060800", source="OMIM:304340"}
xref: SCTID:719139003 {source="MONDO:kboom-pr-0.93/0.77/1.09", source="MONDO:equivalentTo"}
xref: UMLS:C0796254 {source="NCIT:C124839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1568/e", source="DOID:0060800", source="Orphanet:1568", source="OMIM:304340"}
is_a: MONDO:0017121 {source="Orphanet:1568"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0020119 {source="DC-OMIM:304340", source="DOID:0060800", source="OMIM:304340", source="Orphanet:1568"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060800
property_value: exactMatch http://identifiers.org/omim/304340
property_value: exactMatch http://identifiers.org/snomedct/719139003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796254
property_value: exactMatch NCIT:C124839
property_value: exactMatch Orphanet:1568

[Term]
id: MONDO:0010575
name: deafness-hypogonadism syndrome
def: "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior." [Orphanet:90646]
subset: gard_rare {source="GARD:0001691"}
subset: ordo_malformation_syndrome {source="Orphanet:90646"}
synonym: "deafness hypogonadism syndrome" RELATED [GARD:0001691]
synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350]
synonym: "deafness-hypogonadism syndrome; DHS" RELATED [OMIM:304350]
synonym: "DHS" RELATED [MONDO:Lexical, OMIM:304350]
xref: GARD:0001691 {source="MONDO:equivalentTo"}
xref: MESH:C564435 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304350 {source="MONDO:equivalentTo", source="ORDO:90646/e", source="Orphanet:90646"}
xref: Orphanet:90646 {source="MONDO:equivalentTo", source="OMIM:304350"}
is_a: MONDO:0019589 {source="Orphanet:90646"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844680
property_value: exactMatch http://identifiers.org/mesh/C564435
property_value: exactMatch http://identifiers.org/omim/304350
property_value: exactMatch Orphanet:90646
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome xsd:anyURI {source="GARD:0001691"}

[Term]
id: MONDO:0010576
name: X-linked mixed deafness with perilymphatic gusher
def: "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." [Orphanet:383]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:383"}
synonym: "central hearing loss" BROAD [DOID:10003, ICD9CM_2006:389.14]
synonym: "conductive deafness with stapes fixation" EXACT [Orphanet:383]
synonym: "deafness 3 conductive with stapes fixation" RELATED [GARD:0004504]
synonym: "deafness 3, conductive, with stapes fixation" RELATED [OMIM:304400]
synonym: "deafness conductive with stapes fixation" RELATED [GARD:0004504]
synonym: "deafness mixed with perilymphatic gusher" RELATED [GARD:0004504]
synonym: "deafness mixed with perilymphatic gusher, X-linked" EXACT [GARD:0001694]
synonym: "deafness, conductive, with stapes fixation" RELATED [OMIM:304400]
synonym: "deafness, mixed, with perilymphatic gusher" RELATED [OMIM:304400]
synonym: "deafness, X-linked 2" RELATED [MONDO:Lexical, OMIM:304400]
synonym: "deafness, X-linked 2; DFNX2" RELATED [OMIM:304400]
synonym: "deafness, X-linked type 2" EXACT [MONDORULE:1, OMIM:304400]
synonym: "DFN 3 nonsyndromic hearing loss and deafness" RELATED [GARD:0004504]
synonym: "DFN3" RELATED [GARD:0004504]
synonym: "DFNX2" EXACT [MONDO:Lexical, OMIM:304400, Orphanet:383]
synonym: "gusher syndrome" RELATED [GARD:0004504]
synonym: "high frequency deafness" BROAD [DOID:10003]
synonym: "high frequency hearing loss" BROAD [DOID:10003, NCIT:C34663]
synonym: "high-frequency hearing loss" BROAD [DOID:10003]
synonym: "Nance deafness" EXACT [OMIM:304400, Orphanet:383]
synonym: "perceptive deafness" BROAD [DOID:10003]
synonym: "perceptive hearing loss" BROAD [DOID:10003]
synonym: "perceptive hearing loss or deafness" BROAD [DOID:10003, MTHICD9_2006:389.1]
synonym: "perilymphatic gusher-deafness syndrome" RELATED [OMIM:304400]
synonym: "sensorineural deafness" BROAD [DOID:10003, NCIT:C26739]
synonym: "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear" RELATED [OMIM:304400]
synonym: "sensorineural hearing loss" BROAD [MONDO:ambiguous]
synonym: "sensory hearing loss" BROAD [DOID:10003, ICD9CM_2006:389.11]
synonym: "X-linked deafness type 2" EXACT [Orphanet:383]
synonym: "X-linked mixed conductive and neurosensory deafness" EXACT [Orphanet:383]
synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [Orphanet:383]
synonym: "X-linked mixed conductive and sensorineural deafness" EXACT [Orphanet:383]
synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [Orphanet:383]
synonym: "X-linked stapes gusher syndrome" EXACT [Orphanet:383]
xref: DOID:10003 {source="EFO:1001176", source="MONDO:equivalentTo", source="todo check"}
xref: EFO:1001176 {source="MONDO:equivalentTo"}
xref: GARD:0001694 {source="MONDO:equivalentTo"}
xref: GARD:0004504 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H90.5 {source="DOID:10003"}
xref: ICD10:H90.8 {source="ORDO:383/attributed", source="ORDO:383/ntbt", source="Orphanet:383"}
xref: ICD10:H91.9 {source="DOID:10003"}
xref: ICD9:389.1 {source="EFO:1001176", source="DOID:10003"}
xref: ICD9:389.10 {source="DOID:10003"}
xref: ICD9:389.14 {source="DOID:10003"}
xref: MedDRA:10040016 {source="EFO:1001176"}
xref: OMIM:304400 {source="MONDO:equivalentTo", source="ORDO:383/e", source="Orphanet:383", source="DOID:10003"}
xref: Orphanet:383 {source="OMIM:304400", source="MONDO:equivalentTo"}
xref: UMLS:C1844678 {source="NCBI:mim2gene_medline", source="OMIM:304400", source="MONDO:equivalentTo", source="Orphanet:383", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002467 {source="DOID:10003"} ! inner ear disease
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019586 {source="DC-OMIM:304400", source="OMIM:304400"} ! X-linked nonsyndromic deafness
property_value: closeMatch http://identifiers.org/meddra/10040016
property_value: closeMatch http://identifiers.org/mesh/D006313
property_value: closeMatch http://identifiers.org/mesh/D006316
property_value: closeMatch http://identifiers.org/snomedct/155256000
property_value: closeMatch http://identifiers.org/snomedct/194421002
property_value: closeMatch http://identifiers.org/snomedct/194427003
property_value: closeMatch http://identifiers.org/snomedct/232326009
property_value: closeMatch http://identifiers.org/snomedct/267770004
property_value: closeMatch http://identifiers.org/snomedct/48758008
property_value: closeMatch http://identifiers.org/snomedct/68467004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018776
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018780
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018784
property_value: closeMatch NCIT:C34663
property_value: exactMatch DOID:10003
property_value: exactMatch http://identifiers.org/omim/304400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844678
property_value: exactMatch Orphanet:383
property_value: narrowMatch http://identifiers.org/mesh/D006319

[Term]
id: MONDO:0010577
name: deafness, X-linked 1
synonym: "deafness, X-linked 1" EXACT [MONDO:Lexical, OMIM:304500]
synonym: "deafness, X-linked 1; DFNX1" RELATED [OMIM:304500]
synonym: "deafness, X-linked 2, sensorineural congenital" RELATED [OMIM:304500]
synonym: "deafness, X-linked type 1" EXACT [MONDORULE:1, OMIM:304500]
synonym: "DFNX1" RELATED [MONDO:Lexical, OMIM:304500]
xref: MESH:C564433 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304500 {source="MONDO:equivalentTo"}
xref: UMLS:C1844677 {source="OMIM:304500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019586 {source="DC-OMIM:304500", source="OMIM:304500"} ! X-linked nonsyndromic deafness
property_value: exactMatch http://identifiers.org/mesh/C564433
property_value: exactMatch http://identifiers.org/omim/304500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844677

[Term]
id: MONDO:0010578
name: deafness dystonia syndrome
def: "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." [Orphanet:52368]
subset: clingen
subset: ordo_disease {source="Orphanet:52368"}
synonym: "DDON syndrome" EXACT [Orphanet:52368]
synonym: "DDP" RELATED [GARD:0008331]
synonym: "deafness - dystonia - optic neuronopathy syndrome" RELATED [GARD:0008331]
synonym: "deafness dystonia optic atrophy syndrome" EXACT [DOID:0050757]
synonym: "deafness dystonia optic neuronopathy syndrome" EXACT [DOID:0050757]
synonym: "deafness dystonia optic neuronopathy syndrome (DDON)" EXACT [DOID:0050757]
synonym: "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" RELATED [OMIM:304700]
synonym: "deafness-Dystonia-optic atrophy syndrome" RELATED [OMIM:304700]
synonym: "deafness-dystonia-optic neuronopathy (DDON) syndrome" RELATED [GARD:0008331]
synonym: "deafness-dystonia-optic neuronopathy syndrome" EXACT [Orphanet:52368]
synonym: "dystonia deafness syndrome" EXACT [DOID:0050757]
synonym: "dystonia-deafness syndrome" RELATED [OMIM:304700]
synonym: "MOHR-Tranebjaerg syndrome" RELATED [MONDO:Lexical, OMIM:304700]
synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757]
synonym: "MOHR-Tranebjaerg syndrome; MTS" RELATED [OMIM:304700]
synonym: "MTS" RELATED [MONDO:Lexical, OMIM:304700]
xref: DOID:0050757 {source="MONDO:equivalentTo"}
xref: GARD:0008331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="Orphanet:52368", source="ORDO:52368/attributed", source="ORDO:52368/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535808 {source="ORDO:52368/e", source="Orphanet:52368", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:304700 {source="ORDO:52368/e", source="Orphanet:52368", source="MONDO:equivalentTo", source="DOID:0050757"}
xref: Orphanet:52368 {source="MONDO:equivalentTo", source="OMIM:304700"}
xref: SCTID:702423009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0796074 {source="ORDO:52368/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:52368", source="MONDO:equivalentTo", source="OMIM:304700"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016802 {source="Orphanet:52368"} ! mitochondrial protein import disorder
is_a: MONDO:0018609 {source="Orphanet:52368"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019589 {source="Orphanet:52368"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="Orphanet:52368"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020265 {source="Orphanet:52368"} ! mitochondrial disease with eye involvement
is_a: MONDO:0020768 ! X-linked deafness
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:52368", source="indirect"} ! inherited neurodegenerative disorder
property_value: exactMatch DOID:0050757
property_value: exactMatch http://identifiers.org/mesh/C535808
property_value: exactMatch http://identifiers.org/omim/304700
property_value: exactMatch http://identifiers.org/snomedct/702423009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796074
property_value: exactMatch Orphanet:52368

[Term]
id: MONDO:0010579
name: X-linked corneal dermoid
def: "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." [Orphanet:1661]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1661"}
synonym: "bilateral corneal dermoids" RELATED [MESH:C535376]
synonym: "CND" RELATED [GARD:0002580, MESH:C535376, MONDO:Lexical, OMIM:304730]
synonym: "corneal dermoids and short stature" RELATED [MESH:C535376]
synonym: "corneal dystrophy epithelial-short stature syndrome" EXACT [Orphanet:1661]
synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730]
synonym: "dermoids of cornea; CND" RELATED [OMIM:304730]
synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376]
synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661]
xref: GARD:0002580 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.4 {source="Orphanet:1661", source="ORDO:1661/attributed", source="ORDO:1661/ntbt"}
xref: MESH:C535376 {source="MONDO:equivalentTo"}
xref: OMIM:304730 {source="ORDO:1661/e", source="Orphanet:1661", source="MONDO:equivalentTo", source="GARD:0002580"}
xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"}
xref: SCTID:715426004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1844671 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:1661", source="NCBI:mim2gene_medline", source="OMIM:304730", source="MONDO:equivalentTo", source="GARD:0002580"}
is_a: MONDO:0020215 {source="Orphanet:1661"} ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535376
property_value: exactMatch http://identifiers.org/omim/304730
property_value: exactMatch http://identifiers.org/snomedct/715426004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844671
property_value: exactMatch Orphanet:1661
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea xsd:anyURI {source="GARD:0002580"}

[Term]
id: MONDO:0010580
name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
def: "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." [Orphanet:37042]
subset: ordo_disease {source="Orphanet:37042"}
synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042]
synonym: "autoimmunity-immunodeficiency syndrome x-linked" RELATED [GARD:0001850]
synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110]
synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110]
synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110]
synonym: "DMSD" EXACT [DOID:0090110]
synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [OMIM:304790]
synonym: "IDDM secretory diarrhea syndrome" RELATED [GARD:0001850]
synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110]
synonym: "Iddm-secretory diarrhea syndrome" RELATED [OMIM:304790]
synonym: "immune dysfunction and diarrhea syndrome" EXACT [NCIT:C131009]
synonym: "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" EXACT [NCIT:C131009]
synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110]
synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [OMIM:304790]
synonym: "Immunodysregulation, polyendocrinopathy and enteropathy X-linked" RELATED [GARD:0001850]
synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked" RELATED [MONDO:Lexical, OMIM:304790]
synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110]
synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; IPEX" RELATED [OMIM:304790]
synonym: "IPEX" EXACT [DOID:0090110, MONDO:Lexical, OMIM:304790, Orphanet:37042]
synonym: "IPEX syndrome" RELATED [GARD:0001850]
synonym: "islets of Langerhans, absence of" RELATED [OMIM:304790]
synonym: "polyendocrinopathy, immune dysfunction and diarrhea x-linked" RELATED [GARD:0001850]
synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [OMIM:304790]
synonym: "X linked polyendocrinopathy" EXACT [NCIT:C131009]
synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:0090110, OMIM:304790]
synonym: "XLAAD" EXACT [DOID:0090110]
synonym: "XPID" EXACT [DOID:0090110]
xref: DOID:0090110 {source="MONDO:equivalentTo"}
xref: GARD:0001850 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:1850 {source="DOID:0090110"}
xref: ICD10:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="ORDO:37042/attributed", source="ORDO:37042/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:250.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580192 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131009 {source="MONDO:kboom-pr-1.00/0.84/14.86", source="MONDO:equivalentTo"}
xref: OMIM:304790 {source="ORDO:37042/e", source="DOID:0090110", source="MONDO:equivalentTo", source="Orphanet:37042"}
xref: Orphanet:37042 {source="DOID:0090110", source="MONDO:equivalentTo", source="OMIM:304790"}
xref: SCTID:237618001 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
is_a: MONDO:0015709 {source="Orphanet:37042"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0017278 ! autoimmune polyendocrinopathy
is_a: MONDO:0019126 {source="Orphanet:37042"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:37042"} ! autoimmune enteropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342288
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844663
property_value: exactMatch DOID:0090110
property_value: exactMatch http://identifiers.org/mesh/C580192
property_value: exactMatch http://identifiers.org/omim/304790
property_value: exactMatch http://identifiers.org/snomedct/237618001
property_value: exactMatch NCIT:C131009
property_value: exactMatch Orphanet:37042

[Term]
id: MONDO:0010581
name: diabetes insipidus, nephrogenic, X-linked
synonym: "diabetes insipidus, nephrogenic, type 1" RELATED [OMIM:304800]
synonym: "diabetes insipidus, nephrogenic, X-linked" EXACT [OMIM:304800]
synonym: "Ndi" RELATED [OMIM:304800]
xref: OMIM:304800 {source="MONDO:equivalentTo"}
xref: UMLS:C1563705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:304800"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0016383 {source="ORDO:223/btnt"} ! nephrogenic diabetes insipidus
property_value: exactMatch http://identifiers.org/omim/304800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563705

[Term]
id: MONDO:0010582
name: diabetes insipidus, neurohypophyseal type
synonym: "diabetes insipidus, neurohypophyseal type" EXACT [OMIM:304900]
xref: OMIM:304900 {source="MONDO:equivalentTo"}
xref: UMLS:CN074293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007450 {source="MONDOLEX:0010582", source="ORDO:30925/btnt"} ! neurohypophyseal diabetes insipidus
property_value: exactMatch http://identifiers.org/omim/304900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074293

[Term]
id: MONDO:0010583
name: Dyggve-Melchior-Clausen syndrome, X-linked
def: "X-linked form of Dyggve-Melchior-Clausen disease." [MONDO:patterns/x_linked]
synonym: "Dyggve-Melchior-Clausen disease, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "Dyggve-Melchior-Clausen syndrome, X-linked" EXACT [OMIM:304950]
synonym: "X-linked Dyggve-Melchior-Clausen disease" EXACT [MONDO:design_pattern]
xref: OMIM:304950 {source="MONDO:equivalentTo"}
xref: UMLS:C1844654 {source="NCBI:mim2gene_medline", source="OMIM:304950", source="MONDO:equivalentTo"}
is_a: MONDO:0009130 {source="MONDO:Redundant", source="MONDOLEX:0010583", source="ORDO:239/btnt"} ! Dyggve-Melchior-Clausen disease
is_a: MONDO:0010248 ! X-linked spondyloepimetaphyseal dysplasia
property_value: exactMatch http://identifiers.org/omim/304950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844654

[Term]
id: MONDO:0010584
name: dyskeratosis congenita, X-linked
def: "X-linked form of dyskeratosis congenita." [MONDO:patterns/x_linked]
synonym: "cerebellar hypoplasia with pancytopenia" RELATED [OMIM:305000]
synonym: "DKCX" EXACT [DOID:0070025]
synonym: "DKCX" RELATED [GARD:0002007, MONDO:Lexical, OMIM:305000]
synonym: "dyskeratosis congenita X-linked" RELATED [GARD:0002007]
synonym: "dyskeratosis congenita, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:305000]
synonym: "dyskeratosis congenita, X-linked; DKCX" RELATED [OMIM:305000]
synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [OMIM:305000]
synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352]
synonym: "Hoyeraal-Hreidarsson syndrome" RELATED [OMIM:305000]
synonym: "X-linked dyskeratosis congenita" EXACT []
synonym: "X-linked dyskeratosis congenita" RELATED [DOID:0070025, GARD:0002007]
synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000]
xref: DOID:0070025 {source="MONDO:equivalentTo"}
xref: GARD:0002007 {source="MONDO:equivalentTo"}
xref: NCIT:C126352 {source="MONDO:equivalentTo"}
xref: OMIM:305000 {source="DOID:0070025", source="MONDO:equivalentTo"}
xref: SCTID:708536001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0100152 {source="https://clinicalgenome.org/affiliation/40006/"} ! DKC1-related disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1148551
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806774
property_value: exactMatch DOID:0070025
property_value: exactMatch http://identifiers.org/omim/305000
property_value: exactMatch http://identifiers.org/snomedct/708536001
property_value: exactMatch NCIT:C126352

[Term]
id: MONDO:0010585
name: X-linked hypohidrotic ectodermal dysplasia
def: "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." [MESH:D053358]
subset: ordo_etiological_subtype {source="Orphanet:181"}
synonym: "anhidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427]
synonym: "Christ-Siemens-Touraine syndrome" EXACT [Orphanet:181]
synonym: "CST syndrome" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia 1" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" RELATED [MONDO:Lexical, OMIM:305100]
synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked; XHED" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia, anhidrotic, X-linked" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia, hypohidrotic, 1" RELATED [OMIM:305100]
synonym: "Eda1" RELATED [OMIM:305100]
synonym: "hypohidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427]
synonym: "hypohidrotic ectodermal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [Orphanet:181]
synonym: "XHED" EXACT [MONDO:Lexical, OMIM:305100, Orphanet:181]
synonym: "Xlhed" RELATED [OMIM:305100]
xref: GARD:0010427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.4 {source="Orphanet:181", source="ORDO:181/attributed", source="ORDO:181/ntbt"}
xref: OMIM:305100 {source="ORDO:181/e", source="MONDO:equivalentTo", source="Orphanet:181"}
xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0016535 {source="MONDO:Redundant", source="MONDOLEX:0010585", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia
property_value: exactMatch http://identifiers.org/mesh/D053358
property_value: exactMatch http://identifiers.org/omim/305100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162359
property_value: exactMatch Orphanet:181

[Term]
id: MONDO:0010586
name: X-linked Ehlers-Danlos syndrome
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." [Orphanet:75497]
subset: ordo_disease {source="Orphanet:75497"}
synonym: "EDS 5" RELATED [OMIM:305200]
synonym: "EDS V" EXACT [Orphanet:75497]
synonym: "EDS5" RELATED [OMIM:305200]
synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497]
synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200]
synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200]
synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75497", source="ORDO:75497/attributed", source="ORDO:75497/ntbt"}
xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:75497/e"}
xref: NCIT:C141423 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: OMIM:305200 {source="Orphanet:75497", source="MONDO:equivalentObsolete", source="ORDO:75497/e"}
xref: Orphanet:75497 {source="OMIM:305200", source="MONDO:equivalentTo"}
xref: SCTID:67202007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:C0268341 {source="OMIM:305200", source="Orphanet:75497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:75497/e"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0020066 {source="DC-OMIM:305200", source="MESH:C536197", source="MONDO:Redundant", source="MONDOLEX:0010586", source="NCIT:C141423", source="Orphanet:75497", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C536197
property_value: exactMatch http://identifiers.org/omim/305200
property_value: exactMatch http://identifiers.org/snomedct/67202007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268341
property_value: exactMatch NCIT:C141423
property_value: exactMatch Orphanet:75497

[Term]
id: MONDO:0010587
name: epidermodysplasia verruciformis, X-linked
def: "X-linked form of epidermodysplasia verruciformis." [MONDO:patterns/x_linked]
synonym: "EDV2" RELATED [MONDO:Lexical, OMIM:305350]
synonym: "EDVX" RELATED [OMIM:305350]
synonym: "epidermodysplasia verruciformis, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "epidermodysplasia verruciformis, X-linked; EDVX" RELATED [MONDO:Lexical, OMIM:305350]
synonym: "epidermodysplasia verruciformis, X-linked; EDVX; EDV2" RELATED [OMIM:305350]
synonym: "X-linked epidermodysplasia verruciformis" EXACT [MONDO:design_pattern]
xref: MESH:C564430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305350 {source="MONDO:equivalentTo"}
xref: UMLS:C1844589 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305350"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0009176 {source="MESH:C564430", source="MONDO:Redundant", source="ORDO:302/btnt"} ! epidermodysplasia verruciformis
property_value: exactMatch http://identifiers.org/mesh/C564430
property_value: exactMatch http://identifiers.org/omim/305350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844589

[Term]
id: MONDO:0010588
name: exudative vitreoretinopathy 2, X-linked
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EVR2" RELATED [MONDO:Lexical, OMIM:305390]
synonym: "Evrx" RELATED [OMIM:305390]
synonym: "exudative vitreoretinopathy 2, X-linked" EXACT [MONDO:Lexical, OMIM:305390]
synonym: "exudative vitreoretinopathy 2, X-linked; EVR2" RELATED [OMIM:305390]
synonym: "exudative vitreoretinopathy caused by mutation in NDP" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy, familial, 2" RELATED [OMIM:305390]
synonym: "Fevr, X-linked" RELATED [OMIM:305390]
synonym: "NDP exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564428 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305390 {source="MONDO:equivalentTo"}
xref: UMLS:C1844579 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305390"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0019516 {source="DC-OMIM:305390", source="MONDO:Redundant", source="OMIM:305390"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/mesh/C564428
property_value: exactMatch http://identifiers.org/omim/305390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844579

[Term]
id: MONDO:0010589
name: Aarskog-Scott syndrome, X-linked
def: "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." [Orphanet:915]
synonym: "Aarskog disease" BROAD [MESH:C535331]
synonym: "Aarskog Scott syndrome" RELATED [GARD:0004775]
synonym: "Aarskog syndrome" BROAD [Orphanet:915]
synonym: "Aarskog syndrome, X-linked" EXACT [OMIM:305400]
synonym: "Aarskog-like syndrome" BROAD [MESH:C535331]
synonym: "Aarskog-Scott syndrome" BROAD [MESH:C535331, MONDO:Lexical, OMIM:305400]
synonym: "Aarskog-Scott syndrome; AAS" BROAD [OMIM:305400]
synonym: "AAS" BROAD [MESH:C535331, MONDO:Lexical, OMIM:305400]
synonym: "facio-digito-genital dysplasia" BROAD [MESH:C535331]
synonym: "faciodigitogenital syndrome" BROAD [MESH:C535331, OMIM:305400, Orphanet:915]
synonym: "faciodigitogenital syndrome, recessive" BROAD [MESH:C535331]
synonym: "faciogenital dysplasia" BROAD [MESH:C535331, OMIM:305400, Orphanet:915]
synonym: "faciogenital dysplasia with attention Deficit-hyperactivity disorder" RELATED [OMIM:305400]
synonym: "FGD" BROAD [NCIT:C129720]
synonym: "FGDY" BROAD [MESH:C535331]
synonym: "mental retardation, X-linked, syndromic 16" NARROW [OMIM:305400]
synonym: "mental retardation, X-linked, syndromic 16, included" NARROW [MESH:C535331]
synonym: "MRXS16, included" NARROW [MESH:C535331]
synonym: "Scott Aarskog syndrome" BROAD [MESH:C535331]
xref: GARD:0004775 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:915"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067148 {source="Orphanet:915"}
xref: MESH:C535331 {source="MONDO:equivalentTo"}
xref: NCIT:C129720 {source="MONDO:kboom-pr-0.93/0.83/0.36", source="MONDO:equivalentTo"}
xref: OMIM:305400 {source="MONDO:equivalentTo", source="Orphanet:915"}
xref: Orphanet:915 {source="MONDO:equivalentTo"}
xref: SCTID:14921002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.69/2.89"}
is_a: MONDO:0000425 {source="MESH:C535331", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:915"} ! syndromic lymphedema
is_a: MONDO:0021005 ! faciodigitogenital syndrome
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:915"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:915"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:305400", source="Orphanet:915"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844569
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275558
property_value: exactMatch http://identifiers.org/mesh/C535331
property_value: exactMatch http://identifiers.org/omim/305400
property_value: exactMatch http://identifiers.org/snomedct/14921002
property_value: exactMatch NCIT:C129720
property_value: exactMatch Orphanet:915

[Term]
id: MONDO:0010590
name: FG syndrome 1
def: "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FG syndrome" RELATED [OMIM:305450]
synonym: "FG syndrome 1" EXACT [OMIM:305450]
synonym: "FG syndrome caused by mutation in MED12" EXACT [MONDO:design_pattern]
synonym: "FG syndrome type 1" RELATED [Orphanet:93932]
synonym: "Keller syndrome" RELATED [OMIM:305450]
synonym: "MED12 FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [OMIM:305450]
synonym: "OKS" RELATED [MONDO:Lexical, OMIM:305450]
synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical, OMIM:305450]
synonym: "Opitz-Kaveggia syndrome; OKS" RELATED [OMIM:305450]
xref: OMIM:305450 {source="MONDO:equivalentTo"}
xref: Orphanet:93932 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0002010 {source="DC-OMIM:305450", source="MONDO:Redundant", source="MONDOLEX:0010590"} ! FG syndrome
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:93932"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015246 {source="Orphanet:93932"} ! syndromic anorectal malformation
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/305450
property_value: exactMatch Orphanet:93932

[Term]
id: MONDO:0010591
name: fingerprint body myopathy
def: "Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." [Orphanet:97232]
subset: gard_rare {source="GARD:0012720"}
subset: ordo_disease {source="Orphanet:97232"}
synonym: "fingerprint body myopathy" EXACT [OMIM:305550]
xref: GARD:0012720 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:97232/attributed", source="ORDO:97232/ntbt", source="Orphanet:97232"}
xref: MESH:C564425 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305550 {source="MONDO:equivalentTo", source="ORDO:97232/e", source="Orphanet:97232"}
xref: Orphanet:97232 {source="MONDO:equivalentTo", source="OMIM:305550"}
xref: UMLS:C1844560 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305550", source="Orphanet:97232"}
is_a: MONDO:0019952 {source="Orphanet:97232"} ! congenital myopathy
property_value: exactMatch http://identifiers.org/mesh/C564425
property_value: exactMatch http://identifiers.org/omim/305550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844560
property_value: exactMatch Orphanet:97232
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy xsd:anyURI {source="GARD:0012720"}

[Term]
id: MONDO:0010592
name: focal dermal hypoplasia
def: "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." [Orphanet:2092]
subset: ordo_malformation_syndrome {source="Orphanet:2092"}
synonym: "DHOF" RELATED [GARD:0006457]
synonym: "FDH" RELATED [MONDO:Lexical, OMIM:305600]
synonym: "focal dermal hypoplasia" EXACT [MONDO:Lexical, OMIM:305600]
synonym: "focal dermal hypoplasia; FDH" RELATED [OMIM:305600]
synonym: "Fodh" RELATED [OMIM:305600]
synonym: "Goltz Gorlin syndrome" RELATED [GARD:0006457]
synonym: "Goltz syndrome" EXACT [CSP2005:0726-8244, DOID:2120, OMIM:305600, Orphanet:2092]
synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092]
xref: DOID:2120 {source="MONDO:equivalentTo"}
xref: GARD:0006457 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="ORDO:2092/ntbt", source="ORDO:2092/index", source="Orphanet:2092"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"}
xref: NCIT:C84715 {source="MONDO:kboom-pr-0.96/0.86/1.16", source="DOID:2120", source="MONDO:equivalentTo"}
xref: OMIM:305600 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"}
xref: Orphanet:2092 {source="OMIM:305600", source="MONDO:equivalentTo"}
xref: SCTID:205573006 {source="DOID:2120", source="MONDO:kboom-pr-0.92/0.83/0.19", source="MONDO:equivalentTo"}
xref: UMLS:C0016395 {source="DOID:2120", source="NCIT:C84715", source="OMIM:305600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"}
is_a: MONDO:0015218 {source="Orphanet:2092"} ! syndromic developmental defect of the eye
is_a: MONDO:0019287 {source="MESH:D005489", source="Orphanet:2092"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019294 {source="Orphanet:2092"} ! mixed dermis disorder
is_a: MONDO:0020063 {source="Orphanet:2092"} ! malformation syndrome with hamartosis
is_a: MONDO:0020119 {source="Orphanet:2092"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020237 {source="Orphanet:2092"} ! lens shape anomaly
is_a: MONDO:0020272 {source="Orphanet:2092"} ! connective tissue disease with eye involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2092"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/snomedct/2298005
property_value: exactMatch DOID:2120
property_value: exactMatch http://identifiers.org/mesh/D005489
property_value: exactMatch http://identifiers.org/omim/305600
property_value: exactMatch http://identifiers.org/snomedct/205573006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016395
property_value: exactMatch NCIT:C84715
property_value: exactMatch Orphanet:2092

[Term]
id: MONDO:0010593
name: obsolete Frontometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0015942

[Term]
id: MONDO:0010594
name: inherited genitourinary tract anomalies (disease)
synonym: "genitourinary tract anomalies" EXACT [MONDO:ambiguous, OMIM:305690]
xref: HP:0000119 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C564424 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305690 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0021145 ! disease of genitourinary system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844502
property_value: exactMatch http://identifiers.org/mesh/C564424
property_value: exactMatch http://identifiers.org/omim/305690

[Term]
id: MONDO:0010595
name: Sertoli cell-only syndrome
def: "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility . In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome . Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome , especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy , and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy . Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome]
comment: Editor note: consider moving OMIMPS from azoospermia to here
subset: gard_rare {source="GARD:0008406"}
synonym: "DEL CASTILLO syndrome" EXACT [DOID:0050457]
synonym: "Del Castillo syndrome" RELATED [OMIM:305700]
synonym: "Germinal cell aplasia" EXACT [DOID:0050457, OMIM:305700]
synonym: "Sertoli cell-only syndrome" EXACT [OMIM:305700]
xref: DOID:0050457 {source="MONDO:equivalentTo"}
xref: EFO:1001422 {source="MONDO:equivalentTo"}
xref: GARD:0008406 {source="MONDO:equivalentTo"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D054331 {source="MONDO:equivalentTo", source="DOID:0050457", source="MONDO:ontobio"}
xref: SCTID:73465006 {source="MONDO:equivalentTo", source="DOID:0050457", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0004983 {source="DC-OMIM:305700", source="OMIM:305700"} ! azoospermia
is_a: MONDO:0018393 ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384583
property_value: exactMatch DOID:0050457
property_value: exactMatch http://identifiers.org/mesh/D054331
property_value: exactMatch http://identifiers.org/snomedct/73465006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome xsd:anyURI {source="GARD:0008406"}

[Term]
id: MONDO:0010596
name: membranoproliferative glomerulonephritis, X-linked
synonym: "membranoproliferative glomerulonephritis, X-linked" EXACT [OMIM:305800]
synonym: "Mesangiocapillary glomerulonephritis, X-linked" RELATED [OMIM:305800]
xref: MESH:C564423 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305800 {source="MONDO:equivalentTo"}
xref: UMLS:C1844501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305800"}
is_a: MONDO:0018904 {source="MONDOLEX:0010596", source="ORDO:54370/btnt"} ! primary membranoproliferative glomerulonephritis
property_value: exactMatch http://identifiers.org/mesh/C564423
property_value: exactMatch http://identifiers.org/omim/305800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844501

[Term]
id: MONDO:0010597
name: glutamyl ribose-5-phosphate storage disease
synonym: "ADP-ribose Protein hydrolase deficiency" RELATED [OMIM:305920]
synonym: "glutamyl ribose-5-phosphate storage disease" EXACT [OMIM:305920]
xref: MESH:C564422 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:305920 {source="MONDO:equivalentTo"}
xref: UMLS:C1844440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305920"}
is_a: MONDO:0003847 {source="MESH:C564422/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564422
property_value: exactMatch http://identifiers.org/omim/305920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844440

[Term]
id: MONDO:0010598
name: glycogen storage disease IXa
def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene." [MONDO:design_pattern]
synonym: "glycogen storage disease caused by mutation in PHKA2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease IXa1" RELATED [MONDO:Lexical, OMIM:306000]
synonym: "glycogen storage disease IXa1; GSD9A1" RELATED [OMIM:306000]
synonym: "glycogen storage disease IXa2" RELATED [OMIM:306000]
synonym: "glycogen storage disease type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5]
synonym: "glycogen storage disease VIII" RELATED [OMIM:306000]
synonym: "glycogen storage disease VIII, formerly" RELATED [OMIM:306000]
synonym: "glycogenosis type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogenosis type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD IXa2" RELATED [OMIM:306000]
synonym: "GSD type 9A" EXACT [DOID:0111042]
synonym: "GSD type IXa" EXACT [DOID:0111042]
synonym: "GSD VIII" RELATED [OMIM:306000]
synonym: "GSD VIII, formerly" RELATED [OMIM:306000]
synonym: "GSD9A" EXACT [DOID:0111042]
synonym: "GSD9A1" RELATED [MONDO:Lexical, OMIM:306000]
synonym: "liver glycogenosis, X-linked, type 1" RELATED [OMIM:306000]
synonym: "liver glycogenosis, X-linked, type 2" RELATED [OMIM:306000]
synonym: "PHKA2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKA2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
xref: DOID:0111042 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="DOID:0111042"}
xref: MESH:C564421 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306000 {source="MONDO:equivalentTo", source="DOID:0111042", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"}
is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1418533
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844412
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748941
property_value: exactMatch DOID:0111042
property_value: exactMatch http://identifiers.org/mesh/C564421
property_value: exactMatch http://identifiers.org/omim/306000

[Term]
id: MONDO:0010599
name: granulomas, congenital cerebral
subset: gard_rare {source="GARD:0008368"}
synonym: "congenital cerebral granulomas" RELATED [GARD:0008368]
synonym: "granulomas, congenital cerebral" EXACT [OMIM:306300]
xref: GARD:0008368 {source="MONDO:equivalentTo"}
xref: MESH:C537294 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306300 {source="MONDO:equivalentTo"}
xref: UMLS:C1844406 {source="OMIM:306300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537294
property_value: exactMatch http://identifiers.org/omim/306300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral xsd:anyURI {source="GARD:0008368"}

[Term]
id: MONDO:0010600
name: granulomatous disease, chronic, X-linked
synonym: "CDGX" RELATED [OMIM:306400]
synonym: "CGD" RELATED [MONDO:Lexical, OMIM:306400]
synonym: "chronic granulomatous disease, atypical" RELATED [OMIM:306400]
synonym: "chronic granulomatous disease, X-linked" RELATED [OMIM:306400]
synonym: "cytochrome B-negative granulomatous disease, chronic, X-linked" RELATED [OMIM:306400]
synonym: "cytochrome B-positive granulomatous disease, chronic, X-linked" RELATED [OMIM:306400]
synonym: "granulomatous disease, chronic, X-linked" EXACT [MONDO:Lexical, OMIM:306400]
synonym: "granulomatous disease, chronic, X-linked, variant" RELATED [OMIM:306400]
synonym: "granulomatous disease, chronic, X-linked; CDGX" RELATED [OMIM:306400]
synonym: "granulomatous disease, chronic, X-linked; CGD" RELATED [OMIM:306400]
xref: DOID:0070195 {source="MONDO:equivalentTo"}
xref: OMIM:306400 {source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="DC-OMIM:306400", source="OMIM:306400"} ! chronic granulomatous disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844376
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844379
property_value: exactMatch DOID:0070195
property_value: exactMatch http://identifiers.org/omim/306400

[Term]
id: MONDO:0010601
name: gynecomastia, familial
def: "An instance of gynecomastia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: check OMIM
synonym: "gynecomastia, familial" EXACT [OMIM:306500]
synonym: "hereditary gynecomastia" EXACT [MONDO:patterns/hereditary]
synonym: "moved to 312300" RELATED [OMIM:306500]
xref: MESH:C564416 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306500 {source="MONDO:equivalentTo"}
xref: UMLS:C1844375 {source="OMIM:306500", source="MONDO:equivalentTo"}
is_a: MONDO:0001571 {source="MESH:C564416", source="MONDO:Entailed"} ! gynecomastia
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0001571 ! gynecomastia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C564416
property_value: exactMatch http://identifiers.org/omim/306500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844375

[Term]
id: MONDO:0010602
name: hemophilia A
def: "Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." [Orphanet:98878]
subset: ordo_disease {source="Orphanet:98878"}
synonym: "autosomal hemophilia a" RELATED [OMIM:134500]
synonym: "classic hemophilia" RELATED [GARD:0006591]
synonym: "classical hemophilia" RELATED [GARD:0006591]
synonym: "congenital factor VIII disorder" EXACT [DOID:12134, ICD9CM_2006:286.0]
synonym: "factor 8 deficiency" RELATED [GARD:0006591, OMIM:134500]
synonym: "factor VIII deficiency" EXACT [MONDO:0007596, Orphanet:98878]
synonym: "Haemophilia A" RELATED [GARD:0006591]
synonym: "hem A" RELATED [GARD:0006591]
synonym: "HEMA" RELATED [MONDO:Lexical, OMIM:306700]
synonym: "hemophilia A" EXACT [DOID:12134, MONDO:Lexical, OMIM:306700]
synonym: "hemophilia A, congenital" RELATED [GARD:0006591]
synonym: "hemophilia A; HEMA" RELATED [OMIM:306700]
synonym: "hemophilia type A" EXACT [MONDORULE:1, Orphanet:98878]
synonym: "hemophilia type a" EXACT [MONDORULE:1, OMIM:306700]
synonym: "hemophilia, classic" RELATED [OMIM:306700]
synonym: "hereditary Factor VIII deficiency" EXACT [NCIT:C27146]
synonym: "hereditary Factor VIII deficiency disease" EXACT [NCIT:C27146]
synonym: "Subhemophilia" EXACT [DOID:12134, MTHICD9_2006:286.0]
xref: DOID:12134 {source="MONDO:equivalentTo", source="EFO:0007267"}
xref: EFO:0007267 {source="MONDO:equivalentTo"}
xref: GARD:0006591 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D66 {source="ORDO:98878/e", source="ORDO:98878/specific", source="Orphanet:98878", source="DOID:12134"}
xref: ICD9:286.0 {source="DOID:12134"}
xref: MedDRA:10016080 {source="ORDO:98878/e", source="Orphanet:98878"}
xref: MESH:D006467 {source="ORDO:98878/e", source="MONDO:equivalentTo", source="Orphanet:98878", source="DOID:12134", source="EFO:0007267"}
xref: NCIT:C27146 {source="MONDO:kboom-pr-0.91/0.68/1.32", source="MONDO:equivalentTo", source="DOID:12134"}
xref: OMIM:134500 {source="MONDO:equivalentTo", source="DOID:12134"}
xref: OMIM:306700 {source="ORDO:98878/e", source="MONDO:equivalentTo", source="Orphanet:98878"}
xref: Orphanet:98878 {source="OMIM:306700", source="MONDO:equivalentTo"}
xref: SCTID:234440005 {source="MONDO:kboom-pr-0.88/0.75/0.11", source="MONDO:equivalentTo"}
xref: UMLS:C0019069 {source="ORDO:98878/e", source="NCBI:mim2gene_medline", source="NCIT:C27146", source="MONDO:equivalentTo", source="Orphanet:98878", source="OMIM:134500", source="DOID:12134"}
xref: UMLS:CN239112 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 {source="DOID:12134"} ! X-linked disease
is_a: MONDO:0002243 {source="MESH:D006467"} ! hemorrhagic disease
is_a: MONDO:0018660 {source="EFO:0007267", source="NCIT:C27146", source="Orphanet:98878"} ! hemophilia
is_a: MONDO:0021181 {source="MESH:D006467", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/28293008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1366370
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3494187
property_value: exactMatch DOID:12134
property_value: exactMatch http://identifiers.org/meddra/10016080
property_value: exactMatch http://identifiers.org/mesh/D006467
property_value: exactMatch http://identifiers.org/omim/134500
property_value: exactMatch http://identifiers.org/omim/306700
property_value: exactMatch http://identifiers.org/snomedct/234440005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239112
property_value: exactMatch NCIT:C27146
property_value: exactMatch Orphanet:98878

[Term]
id: MONDO:0010603
name: hemophilia A with vascular abnormality
synonym: "hemophilia A with vascular abnormality" EXACT [OMIM:306800]
xref: MESH:C564415 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306800 {source="MONDO:equivalentTo"}
xref: UMLS:C1844137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:306800"}
is_a: MONDO:0010602 {source="MESH:C564415", source="MONDO:cjm", source="MONDOLEX:0010603"} ! hemophilia A
property_value: exactMatch http://identifiers.org/mesh/C564415
property_value: exactMatch http://identifiers.org/omim/306800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844137

[Term]
id: MONDO:0010604
name: hemophilia B
def: "Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." [Orphanet:98879]
subset: gard_rare {source="GARD:0008732"}
subset: ordo_disease {source="Orphanet:98879"}
synonym: "Christmas disease" EXACT [OMIM:306900, Orphanet:98879]
synonym: "congenital factor IX deficiency" EXACT [DOID:12259]
synonym: "congenital factor IX disorder" EXACT [DOID:12259, ICD9CM_2006:286.1]
synonym: "deficiency, functional factor IX" EXACT [DOID:12259, MTHICD9_2006:286.1]
synonym: "F9 deficiency" RELATED [OMIM:306900]
synonym: "factor 9 deficiency" RELATED [OMIM:306900]
synonym: "factor IX deficiency" EXACT [CSP2005:0438-3499, DOID:12259, Orphanet:98879]
synonym: "hem B" RELATED [GARD:0008732]
synonym: "HEMB" RELATED [MONDO:Lexical, OMIM:306900]
synonym: "hemophilia B" EXACT [MONDO:Lexical, OMIM:306900]
synonym: "hemophilia B Leyden" RELATED [OMIM:306900]
synonym: "hemophilia B(M)" RELATED [OMIM:306900]
synonym: "hemophilia B; HEMB" RELATED [OMIM:306900]
synonym: "hemophilia type B" EXACT [DOID:12259, MONDORULE:1, OMIM:306900, Orphanet:98879]
synonym: "hereditary Factor IX deficiency" EXACT [NCIT:C26721]
synonym: "hereditary Factor IX deficiency disease" EXACT [NCIT:C26721]
synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900]
xref: DOID:12259 {source="MONDO:equivalentTo"}
xref: EFO:0009154 {source="MONDO:equivalentTo"}
xref: GARD:0008732 {source="MONDO:equivalentTo"}
xref: ICD10:D67 {source="ORDO:98879/specific", source="DOID:12259", source="ORDO:98879/e", source="Orphanet:98879"}
xref: ICD9:286.1 {source="DOID:12259", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10016077 {source="ORDO:98879/e", source="Orphanet:98879"}
xref: MESH:D002836 {source="DOID:12259", source="ORDO:98879/e", source="MONDO:equivalentTo", source="Orphanet:98879", source="MONDO:ontobio"}
xref: NCIT:C26721 {source="DOID:12259", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:306900 {source="DOID:12259", source="ORDO:98879/e", source="MONDO:equivalentTo", source="Orphanet:98879"}
xref: Orphanet:98879 {source="MONDO:equivalentTo", source="OMIM:306900"}
xref: SCTID:41788008 {source="DOID:12259", source="MONDO:kboom-pr-1.00/0.80/9.15", source="MONDO:equivalentTo"}
xref: UMLS:C0008533 {source="DOID:12259", source="NCBI:mim2gene_medline", source="ORDO:98879/e", source="MONDO:equivalentTo", source="OMIM:306900", source="Orphanet:98879", source="NCIT:C26721"}
is_a: MONDO:0002243 {source="MESH:D002836"} ! hemorrhagic disease
is_a: MONDO:0018660 {source="NCIT:C26721", source="Orphanet:98879", source="linkedlifedata"} ! hemophilia
property_value: closeMatch http://identifiers.org/snomedct/154817006
property_value: closeMatch http://identifiers.org/snomedct/234443007
property_value: exactMatch DOID:12259
property_value: exactMatch http://identifiers.org/meddra/10016077
property_value: exactMatch http://identifiers.org/mesh/D002836
property_value: exactMatch http://identifiers.org/omim/306900
property_value: exactMatch http://identifiers.org/snomedct/41788008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008533
property_value: exactMatch NCIT:C26721
property_value: exactMatch Orphanet:98879
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b xsd:anyURI {source="GARD:0008732"}

[Term]
id: MONDO:0010605
name: hemopoietic proliferation
synonym: "hemopoietic proliferation" EXACT [OMIM:306930]
xref: OMIM:306930 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844026
property_value: exactMatch http://identifiers.org/omim/306930

[Term]
id: MONDO:0010606
name: hernia, anterior diaphragmatic
synonym: "hernia, anterior diaphragmatic" EXACT [OMIM:306950]
xref: MESH:C564413 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306950 {source="MONDO:equivalentTo"}
is_a: MONDO:0005711 {source="ORDO:2140/btnt"} ! congenital diaphragmatic hernia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844025
property_value: exactMatch http://identifiers.org/mesh/C564413
property_value: exactMatch http://identifiers.org/omim/306950

[Term]
id: MONDO:0010607
name: heterotaxy, visceral, 1, X-linked
def: "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion , and is usually seen in males. Physical features include heart abnormalities such as dextrocardia , transposition of great vessels , ventricular septal defect , patent ductus arteriosus , pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele , urological anomalies, widely spaced eyes (hypertelorism), cleft palate , and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia ." [https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1]
subset: gard_rare {source="GARD:0008591"}
synonym: "congenital heart defects, multiple types, 1, X-linked" RELATED [OMIM:306955]
synonym: "dextrocardia with Other Cardiac malformations" RELATED [OMIM:306955]
synonym: "heterotaxy, visceral, 1, X-linked" EXACT [MONDO:Lexical, OMIM:306955]
synonym: "heterotaxy, visceral, 1, X-linked; HTX1" RELATED [OMIM:306955]
synonym: "heterotaxy, visceral, X-linked" RELATED [GARD:0008591]
synonym: "HTX1" RELATED [MONDO:Lexical, OMIM:306955]
synonym: "laterality, X-linked" RELATED [OMIM:306955]
synonym: "situs inversus, Complex Cardiac defects, and splenic defects, X-linked" RELATED [OMIM:306955]
synonym: "visceral heterotaxy caused by mutation in ZIC3" EXACT [MONDO:design_pattern]
synonym: "X-linked visceral heterotaxy 1" RELATED [GARD:0008591]
synonym: "ZIC3 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009136 {source="MONDO:equivalentTo"}
xref: GARD:0008591 {source="MONDO:equivalentTo"}
xref: MESH:C538116 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306955 {source="MONDO:equivalentTo"}
xref: UMLS:C1844020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:306955"}
is_a: MONDO:0018677 {source="DC-OMIM:306955", source="MONDO:Redundant", source="MONDOLEX:0010607", source="OMIM:306955"} ! visceral heterotaxy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151867
property_value: exactMatch http://identifiers.org/mesh/C538116
property_value: exactMatch http://identifiers.org/omim/306955
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844020
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 xsd:anyURI {source="GARD:0008591"}

[Term]
id: MONDO:0010608
name: Hhhh syndrome
synonym: "hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome" RELATED [OMIM:306960]
synonym: "Hhhh syndrome" EXACT [OMIM:306960]
xref: MESH:C564411 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306960 {source="MONDO:equivalentTo"}
xref: UMLS:C1844019 {source="OMIM:306960", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564411
property_value: exactMatch http://identifiers.org/omim/306960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844019

[Term]
id: MONDO:0010609
name: obsolete Hirschsprung disease with type d brachydactyly
is_obsolete: true
replaced_by: MONDO:0016294

[Term]
id: MONDO:0010610
name: holoprosencephaly-hypokinesia-congenital contractures syndrome
def: "Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." [Orphanet:2570]
subset: ordo_malformation_syndrome {source="Orphanet:2570"}
synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [OMIM:306990]
synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570]
synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570]
xref: GARD:0003788 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.2 {source="MONDO:relatedTo", source="ORDO:2570/ntbt", source="Orphanet:2570"}
xref: MESH:C564409 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:306990 {source="MONDO:equivalentTo", source="ORDO:2570/e", source="Orphanet:2570"}
xref: Orphanet:2570 {source="MONDO:equivalentTo", source="OMIM:306990"}
xref: SCTID:716169009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0017120 {source="Orphanet:2570"} ! other syndrome with a central nervous system malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844016
property_value: exactMatch http://identifiers.org/mesh/C564409
property_value: exactMatch http://identifiers.org/omim/306990
property_value: exactMatch http://identifiers.org/snomedct/716169009
property_value: exactMatch Orphanet:2570

[Term]
id: MONDO:0010611
name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
def: "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." [https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius, https://www.ncbi.nlm.nih.gov/books/NBK1484/, MONDO:cjm, Orphanet:2182]
subset: ordo_clinical_subtype {source="Orphanet:2182"}
synonym: "aqueductal stenosis, X-linked" RELATED [OMIM:307000]
synonym: "Bickers-Adams syndrome" EXACT [Orphanet:2182]
synonym: "HSAS" EXACT [MONDO:Lexical, OMIM:307000, Orphanet:2182]
synonym: "HSAS1" RELATED [OMIM:307000]
synonym: "HYCX" RELATED [GARD:0000434]
synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" RELATED [MONDO:Lexical, OMIM:307000]
synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius; HSAS" RELATED [OMIM:307000]
synonym: "hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [Orphanet:2182]
synonym: "hydrocephalus, X-linked" RELATED [OMIM:307000]
synonym: "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:307000]
synonym: "X-linked acqueductal stenosis" EXACT [Orphanet:2182]
synonym: "X-linked HSAS" EXACT [Orphanet:2182]
synonym: "X-linked hydrocephalus" EXACT [Orphanet:2182]
synonym: "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" EXACT [Orphanet:2182]
synonym: "XLAS" RELATED [GARD:0000434]
xref: GARD:0000434 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q03.0 {source="ORDO:2182/inclusion", source="ORDO:2182/ntbt", source="Orphanet:2182"}
xref: OMIM:307000 {source="MONDO:equivalentTo", source="Orphanet:2182", source="ORDO:2182/e"}
xref: Orphanet:2182 {source="MONDO:equivalentTo", source="OMIM:307000"}
xref: SCTID:71779008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0017140 {source="Orphanet:2182", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844006
property_value: exactMatch http://identifiers.org/omim/307000
property_value: exactMatch http://identifiers.org/snomedct/71779008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265216
property_value: exactMatch Orphanet:2182

[Term]
id: MONDO:0010612
name: hydrocephaly-cerebellar agenesis syndrome
def: "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." [Orphanet:1397]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1397"}
synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200]
synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010]
synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397]
xref: GARD:0001200 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:1397", source="ORDO:1397/attributed", source="ORDO:1397/ntbt"}
xref: MESH:C564407 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:307010 {source="ORDO:1397/e", source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo"}
xref: Orphanet:1397 {source="GARD:0001200", source="MONDO:equivalentTo", source="OMIM:307010"}
xref: UMLS:C1844005 {source="Orphanet:1397", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:307010"}
is_a: MONDO:0020119 {source="Orphanet:1397"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564407
property_value: exactMatch http://identifiers.org/omim/307010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844005
property_value: exactMatch Orphanet:1397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly xsd:anyURI {source="GARD:0001200"}

[Term]
id: MONDO:0010613
name: inborn glycerol kinase deficiency
def: "An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:308993"}
synonym: "GK deficiency" RELATED [OMIM:307030]
synonym: "GK1 deficiency" RELATED [OMIM:307030]
synonym: "GKD" RELATED [MONDO:Lexical, OMIM:307030]
synonym: "glycerol kinase deficiency" EXACT [MONDO:0017702, MONDO:Lexical, OMIM:307030]
synonym: "glycerol kinase deficiency; GKD" RELATED [OMIM:307030]
synonym: "hyperglycerolemia" RELATED [OMIM:307030]
synonym: "inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycerol kinase activity disorder" EXACT []
synonym: "rare inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glycerol kinase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0060363 {source="MONDO:equivalentTo"}
xref: OMIM:307030 {source="DOID:0060363", source="MONDO:equivalentTo"}
xref: Orphanet:308993 {source="MONDO:equivalentTo"}
xref: SCTID:124322002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019227 {source="Orphanet:308993"} ! inborn disorder of glycerol metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/297256008
property_value: exactMatch DOID:0060363
property_value: exactMatch http://identifiers.org/omim/307030
property_value: exactMatch http://identifiers.org/snomedct/124322002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268418
property_value: exactMatch Orphanet:308993

[Term]
id: MONDO:0010614
name: X-linked congenital generalized hypertrichosis
def: "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." [Orphanet:79495]
subset: gard_rare {source="GARD:0002863"}
subset: ordo_clinical_subtype {source="Orphanet:79495"}
synonym: "Cgh" RELATED [OMIM:307150]
synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150]
synonym: "chromosome Xq27.1 interchromosomal insertion syndrome" RELATED [GARD:0002863]
synonym: "congenital generalized hypertrichosis, Macias-Flores type" EXACT [Orphanet:79495]
synonym: "hCG" RELATED [OMIM:307150]
synonym: "HTC2" RELATED [MONDO:Lexical, OMIM:307150]
synonym: "hypertrichosis congenital generalized X-linked" RELATED [GARD:0002863]
synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:307150]
synonym: "hypertrichosis, congenital generalized; HTC2" RELATED [OMIM:307150]
synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495]
synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863]
xref: GARD:0002863 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.2 {source="ORDO:79495/attributed", source="ORDO:79495/ntbt", source="Orphanet:79495"}
xref: MESH:C538388 {source="MONDO:equivalentTo", source="ORDO:79495/e", source="Orphanet:79495"}
xref: OMIM:307150 {source="MONDO:equivalentTo", source="ORDO:79495/e", source="Orphanet:79495"}
xref: Orphanet:79495 {source="MONDO:equivalentTo", source="OMIM:307150"}
is_a: MONDO:0016381 {source="Orphanet:79495"} ! hypertrichosis lanuginosa congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855900
property_value: exactMatch http://identifiers.org/mesh/C538388
property_value: exactMatch http://identifiers.org/omim/307150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931836
property_value: exactMatch Orphanet:79495
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis xsd:anyURI {source="GARD:0002863"}

[Term]
id: MONDO:0010615
name: isolated growth hormone deficiency type III
subset: gard_rare {source="GARD:0003921"}
subset: ordo_clinical_subtype {source="Orphanet:231692"}
synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200]
synonym: "congenital IGHD type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "congenital isolated GH deficiency type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "congenital isolated growth hormone deficiency type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "Fleisher syndrome" EXACT [DOID:0060875, OMIM:307200]
synonym: "Growth hormone deficiency with hypogammaglobulinemia" RELATED [OMIM:307200]
synonym: "growth hormone deficiency with hypogammaglobulinemia" EXACT [DOID:0060875]
synonym: "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200]
synonym: "IGHD 3" RELATED [OMIM:307200]
synonym: "IGHD III" EXACT [DOID:0060875]
synonym: "IGHD3" RELATED [MONDO:Lexical, OMIM:307200]
synonym: "isolated growth hormone deficiency type 3" RELATED [GARD:0003921]
synonym: "isolated growth hormone deficiency, type 3" RELATED [OMIM:307200]
synonym: "isolated growth hormone deficiency, type III" RELATED [MONDO:Lexical, OMIM:307200]
synonym: "isolated growth hormone deficiency, type III; IGHD3" RELATED [OMIM:307200]
synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875]
synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875]
synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692]
synonym: "X-linked isolated growth hormone deficiency" EXACT [DOID:0060875, Orphanet:231692]
xref: DOID:0060875 {source="MONDO:equivalentTo"}
xref: GARD:0003921 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="Orphanet:231692", source="DOID:0060875", source="ORDO:231692/attributed", source="ORDO:231692/ntbt"}
xref: MESH:C537149 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:307200 {source="Orphanet:231692", source="DOID:0060875", source="MONDO:equivalentTo", source="ORDO:231692/btnt"}
xref: Orphanet:231692 {source="DOID:0060875", source="MONDO:equivalentTo", source="OMIM:307200"}
xref: SCTID:234533006 {source="MONDO:kboom-pr-0.73/0.44/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271576
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0472813
property_value: exactMatch DOID:0060875
property_value: exactMatch http://identifiers.org/mesh/C537149
property_value: exactMatch http://identifiers.org/omim/307200
property_value: exactMatch http://identifiers.org/snomedct/234533006
property_value: exactMatch Orphanet:231692
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 xsd:anyURI {source="GARD:0003921"}

[Term]
id: MONDO:0010616
name: obsolete hypogonadism, male
is_obsolete: true
replaced_by: MONDO:0009421

[Term]
id: MONDO:0010617
name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
def: "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." [Orphanet:2234]
subset: ordo_malformation_syndrome {source="Orphanet:2234"}
synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED [OMIM:307500]
synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234]
xref: ICD10:Q87.8 {source="Orphanet:2234", source="ORDO:2234/attributed", source="ORDO:2234/ntbt"}
xref: MESH:C564406 {source="MONDO:equivalentTo"}
xref: OMIM:307500 {source="Orphanet:2234", source="ORDO:2234/e", source="MONDO:equivalentTo"}
xref: Orphanet:2234 {source="OMIM:307500", source="MONDO:equivalentTo"}
xref: SCTID:722459008 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2234", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2234"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843994
property_value: exactMatch http://identifiers.org/mesh/C564406
property_value: exactMatch http://identifiers.org/omim/307500
property_value: exactMatch http://identifiers.org/snomedct/722459008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931285
property_value: exactMatch Orphanet:2234

[Term]
id: MONDO:0010618
name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland
def: "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." [NCIT:C131079]
subset: ordo_clinical_subtype {source="Orphanet:2239"}
synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700]
synonym: "hypoparathyroidism, X-linked; HYPX" RELATED [OMIM:307700]
synonym: "HYPX" RELATED [MONDO:Lexical, OMIM:307700]
synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700]
synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079]
xref: ICD10:E20.8 {source="ORDO:2239/attributed", source="ORDO:2239/ntbt", source="Orphanet:2239"}
xref: MESH:C563238 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131079 {source="MONDO:equivalentTo"}
xref: OMIM:307700 {source="MONDO:equivalentTo", source="ORDO:2239/e", source="Orphanet:2239"}
xref: Orphanet:2239 {source="OMIM:307700", source="MONDO:equivalentTo"}
xref: UMLS:CN201292 {source="MONDO:equivalentTo"}
is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342344
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1386942
property_value: exactMatch http://identifiers.org/mesh/C563238
property_value: exactMatch http://identifiers.org/omim/307700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201292
property_value: exactMatch NCIT:C131079
property_value: exactMatch Orphanet:2239

[Term]
id: MONDO:0010619
name: X-linked dominant hypophosphatemic rickets
def: "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." [Orphanet:89936]
subset: ordo_disease {source="Orphanet:89936"}
synonym: "hereditary hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "HPDR" RELATED [GARD:0012943]
synonym: "HYP" RELATED [OMIM:307800]
synonym: "hypophophatemia, X-linked" RELATED [GARD:0012943]
synonym: "hypophophatemic vitamin D-resistant rickets" RELATED [GARD:0012943]
synonym: "hypophosphatemia, vitamin D-resistant rickets" EXACT [DOID:0050445]
synonym: "hypophosphatemia, X-linked" RELATED [OMIM:307800]
synonym: "hypophosphatemic rickets X-linked dominant" EXACT [DOID:0050445]
synonym: "hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hypophosphatemic rickets, X-linked dominant" RELATED [MONDO:Lexical, OMIM:307800]
synonym: "hypophosphatemic rickets, X-linked dominant; XLHR" RELATED [OMIM:307800]
synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [OMIM:307800]
synonym: "rickets, vitamin D-resistant" EXACT [DOID:0050445]
synonym: "vitamin D-resistant rickets, X-linked" EXACT [DOID:0050445, OMIM:307800]
synonym: "X-linked hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "X-linked hypophosphatemia" EXACT [DOID:0050445]
synonym: "X-linked hypophosphatemic rickets" EXACT [Orphanet:89936]
synonym: "XLH" EXACT [Orphanet:89936]
synonym: "XLHR" RELATED [MONDO:Lexical, OMIM:307800]
xref: DOID:0050445 {source="MONDO:equivalentTo"}
xref: GARD:0012943 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:89936/attributed", source="ORDO:89936/ntbt", source="Orphanet:89936"}
xref: ICD10:E83.31 {source="DOID:0050445"}
xref: MESH:D053098 {source="DOID:0050445", source="MONDO:equivalentTo"}
xref: NCIT:C123265 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: OMIM:307800 {source="DOID:0050445", source="ORDO:89936/e", source="MONDO:equivalentTo", source="Orphanet:89936"}
xref: Orphanet:89936 {source="OMIM:307800", source="MONDO:equivalentTo"}
xref: SCTID:82236004 {source="MONDO:kboom-pr-1.00/0.79/7.67", source="MONDO:equivalentTo"}
is_a: MONDO:0020604 ! X-linked dominant disease
is_a: MONDO:0020720 ! X-linked hypophosphatemic rickets (recessive or dominant)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0733682
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845168
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3536984
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3540852
property_value: closeMatch NCIT:C85234
property_value: exactMatch DOID:0050445
property_value: exactMatch http://identifiers.org/mesh/D053098
property_value: exactMatch http://identifiers.org/omim/307800
property_value: exactMatch http://identifiers.org/snomedct/82236004
property_value: exactMatch NCIT:C123265
property_value: exactMatch Orphanet:89936

[Term]
id: MONDO:0010620
name: hypouricemia, familial renal, due to tubular hypersecretion
synonym: "hypouricemia, familial renal, due to tubular hypersecretion" EXACT [OMIM:307830]
xref: MESH:C564405 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:307830 {source="MONDO:equivalentTo"}
xref: UMLS:C1843972 {source="OMIM:307830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009071 {source="ORDO:94088/btnt"} ! hereditary renal hypouricemia
property_value: exactMatch http://identifiers.org/mesh/C564405
property_value: exactMatch http://identifiers.org/omim/307830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843972

[Term]
id: MONDO:0010621
name: CHILD syndrome
def: "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." [Orphanet:139]
subset: gard_rare {source="GARD:0006039"}
subset: ordo_disease {source="Orphanet:139"}
synonym: "child nevus" EXACT [Orphanet:139]
synonym: "child syndrome" EXACT [OMIM:308050]
synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" RELATED [OMIM:308050]
synonym: "congenital hemidysplasia with ichthyosiform nevus and limb defects" RELATED [GARD:0006039]
synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [Orphanet:139]
synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050]
synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039]
xref: GARD:0006039 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:139", source="ORDO:139/attributed", source="ORDO:139/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562515 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:308050 {source="ORDO:139/e", source="Orphanet:139", source="MONDO:equivalentTo"}
xref: Orphanet:139 {source="MONDO:equivalentTo", source="OMIM:308050"}
xref: SCTID:17608003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.81"}
xref: UMLS:C0265267 {source="ORDO:139/e", source="Orphanet:139", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308050"}
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005073 {source="Orphanet:139"} ! melanocytic nevus
is_a: MONDO:0010556 ! X-linked chondrodysplasia punctata
is_a: MONDO:0015331 {source="Orphanet:139"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:139"} ! X-linked ichthyosis syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021454 ! benign neoplasm of eye
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:139"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C562515
property_value: exactMatch http://identifiers.org/omim/308050
property_value: exactMatch http://identifiers.org/snomedct/17608003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265267
property_value: exactMatch Orphanet:139
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6039/child-syndrome xsd:anyURI {source="GARD:0006039"}

[Term]
id: MONDO:0010622
name: recessive X-linked ichthyosis
def: "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." [Orphanet:461]
subset: ordo_disease {source="Orphanet:461"}
synonym: "ichthyosis (disease), X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "ichthyosis, X-linked" RELATED [MONDO:Lexical, OMIM:308100]
synonym: "ichthyosis, X-linked, complicated" RELATED [OMIM:308100]
synonym: "ichthyosis, X-linked; XLI" RELATED [OMIM:308100]
synonym: "placental steroid sulfatase deficiency" RELATED [OMIM:308100]
synonym: "RXLI" EXACT [Orphanet:461]
synonym: "SSDD" RELATED [GARD:0007904]
synonym: "steroid sulfatase deficiency" EXACT [OMIM:308100, Orphanet:461]
synonym: "steroid sulfatase deficiency disease" RELATED [OMIM:308100]
synonym: "STS deficiency" RELATED [OMIM:308100]
synonym: "X linked ichthyosis" RELATED [GARD:0007904]
synonym: "X-linked ichthyosis" EXACT [Orphanet:461]
synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [DOID:1700]
synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [DOID:1700]
synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700]
synonym: "XLI" EXACT [MONDO:Lexical, OMIM:308100, Orphanet:461]
xref: DOID:1700 {source="MONDO:equivalentTo"}
xref: GARD:0007904 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q80.1 {source="DOID:1700", source="ORDO:461/e", source="Orphanet:461", source="ORDO:461/specific"}
xref: MedDRA:10048063 {source="ORDO:461/e", source="Orphanet:461"}
xref: NCIT:C84779 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1700"}
xref: OMIM:308100 {source="MONDO:equivalentTo", source="DOID:1700", source="ORDO:461/e", source="Orphanet:461"}
xref: Orphanet:461 {source="MONDO:equivalentTo", source="OMIM:308100"}
xref: SCTID:3944006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.05"}
xref: UMLS:C0079588 {source="NCIT:C84779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:1700", source="ORDO:461/e", source="Orphanet:461", source="OMIM:308100"}
is_a: MONDO:0015947 {source="MONDO:Redundant", source="Orphanet:461-generalized-by-cjm", source="Orphanet:461/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! inherited ichthyosis
is_a: MONDO:0019256 ! sterol metabolism disorder
is_a: MONDO:0020605 ! X-linked recessive disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/205552006
property_value: closeMatch http://identifiers.org/snomedct/254160003
property_value: closeMatch http://identifiers.org/snomedct/402771003
property_value: closeMatch http://identifiers.org/snomedct/72523005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677713
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2720163
property_value: exactMatch DOID:1700
property_value: exactMatch http://identifiers.org/meddra/10048063
property_value: exactMatch http://identifiers.org/mesh/D016114
property_value: exactMatch http://identifiers.org/omim/308100
property_value: exactMatch http://identifiers.org/snomedct/3944006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717836
property_value: exactMatch NCIT:C84779
property_value: exactMatch Orphanet:461

[Term]
id: MONDO:0010623
name: ichthyosis and male hypogonadism
synonym: "ichthyosis and male hypogonadism" EXACT [OMIM:308200]
synonym: "Ichthyosis-male hypogonadism syndrome" EXACT [Orphanet:431]
synonym: "rud syndrome" RELATED [OMIM:308200]
synonym: "Ruds" RELATED [OMIM:308200]
xref: GARD:0009612 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:308200 {source="MONDO:equivalentTo"}
xref: Orphanet:431 {source="MONDO:equivalentTo", source="OMIM:308200"}
xref: SCTID:2355008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.52"}
xref: UMLS:C1839989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308200"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270709
property_value: exactMatch http://identifiers.org/omim/308200
property_value: exactMatch http://identifiers.org/snomedct/2355008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839989
property_value: exactMatch Orphanet:431

[Term]
id: MONDO:0010624
name: IFAP/BRESHECK syndrome
def: "Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder initially characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth. Affected individuals may also display intellectual disability, developmental delay, hypotonia, brain malformations, and/or other features of the allelic BRESEK/BRESHECK syndrome. Evidence suggests that these presentations may represent ends of the same phenotypic spectrum." [PMID:21600032, PMID:22105905, PMID:23316014]
subset: ordo_disease {source="Orphanet:2273"}
synonym: "ichthyosis follicularis atrichia photophobia syndrome" RELATED [GARD:0002952]
synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" RELATED [OMIM:308205]
synonym: "ichthyosis follicularis-alopecia-photophobia syndrome" EXACT [https://clinicalgenome.org/affiliation/40006/, https://github.com/monarch-initiative/mondo/issues/1144]
synonym: "ichthyosis follicularis-atrichia-photophobia syndrome" EXACT [Orphanet:2273]
synonym: "IFAP syndrome" EXACT [Orphanet:2273]
synonym: "IFAP syndrome with or without BRESHECK syndrome" RELATED [OMIM:308205]
xref: GARD:0002952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536085 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2273/e", source="Orphanet:2273"}
xref: OMIM:308205 {source="MONDO:equivalentTo", source="ORDO:2273/e", source="Orphanet:2273"}
xref: Orphanet:2273 {source="OMIM:308205", source="MONDO:equivalentTo"}
xref: UMLS:C1839988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:2273/e", source="Orphanet:2273"}
is_a: MONDO:0015331 {source="Orphanet:2273"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0017269 {source="Orphanet:2273"} ! X-linked ichthyosis syndrome
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:2273"} ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275579
property_value: exactMatch http://identifiers.org/mesh/C536085
property_value: exactMatch http://identifiers.org/omim/308205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839988
property_value: exactMatch Orphanet:2273

[Term]
id: MONDO:0010625
name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
synonym: "Gpl115 deficiency" RELATED [OMIM:308220]
synonym: "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein" EXACT [OMIM:308220]
xref: MESH:C564120 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:308220 {source="MONDO:equivalentTo"}
xref: UMLS:C1839982 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308220"}
is_a: MONDO:0003778 {source="DC-OMIM:308220", source="MESH:C564120"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/mesh/C564120
property_value: exactMatch http://identifiers.org/omim/308220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839982

[Term]
id: MONDO:0010626
name: X-linked hyper-IgM syndrome
def: "Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." [https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_1]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:101088"}
synonym: "CD40 ligand deficiency" RELATED [NCIT:C61244]
synonym: "HIGM" RELATED [GARD:0000073]
synonym: "HIGM1" EXACT [GARD:0000073, MONDO:Lexical, OMIM:308230, Orphanet:101088]
synonym: "HIGMX-1" EXACT [DOID:0060022]
synonym: "hyper IgM immunodeficiency, x-linked" RELATED [GARD:0000073]
synonym: "hyper IgM syndrome" RELATED [GARD:0000073]
synonym: "hyper IgM syndrome 1" RELATED [GARD:0000073]
synonym: "hyper-IgM immunodeficiency, X-linked" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome 1" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome due to CD40 ligand deficiency" EXACT [Orphanet:101088]
synonym: "hyper-IgM syndrome due to CD40L deficiency" EXACT [Orphanet:101088]
synonym: "hyper-IgM syndrome type 1" EXACT [Orphanet:101088]
synonym: "hyper-IgM syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hyperimmunoglobulin M syndrome" EXACT [DOID:6620]
synonym: "IHIS" RELATED [GARD:0000073]
synonym: "immunodeficiency 3" RELATED [OMIM:308230]
synonym: "immunodeficiency with hyper IgM type 1" RELATED [GARD:0000073]
synonym: "immunodeficiency with hyper-IgM, type 1" RELATED [MONDO:Lexical, OMIM:308230]
synonym: "immunodeficiency with hyper-IgM, type 1; HIGM1" RELATED [OMIM:308230]
synonym: "X-linked hyper IgM syndrome" RELATED [GARD:0000073]
synonym: "X-linked hyper-IgM syndrome" EXACT [DOID:0060022]
synonym: "XHIGM" EXACT [Orphanet:101088]
synonym: "XHIM" RELATED [GARD:0000073]
xref: DOID:0060022 {source="MONDO:equivalentTo"}
xref: DOID:6620 {source="MONDO:equivalentTo"}
xref: GARD:0000073 {source="MONDO:equivalentTo"}
xref: ICD10:D80.5 {source="Orphanet:101088", source="ORDO:101088/attributed", source="ORDO:101088/ntbt"}
xref: NCIT:C61244 {source="MONDO:equivalentTo"}
xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="GARD:0000073", source="ORDO:101088/e"}
xref: Orphanet:101088 {source="MONDO:equivalentTo", source="OMIM:308230", source="GARD:0000073"}
xref: SCTID:403835002 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:C0398689 {source="Orphanet:101088", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308230"}
xref: Wikidata:Q3508611 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0015975 {source="Orphanet:101088"} ! hyper-IgM syndrome with susceptibility to opportunistic infections
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2348037
property_value: exactMatch DOID:0060022
property_value: exactMatch DOID:6620
property_value: exactMatch http://identifiers.org/omim/308230
property_value: exactMatch http://identifiers.org/snomedct/403835002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398689
property_value: exactMatch NCIT:C61244
property_value: exactMatch Orphanet:101088
property_value: pathogenesis "This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG." xsd:string {source="https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_1"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 xsd:anyURI {source="GARD:0000073"}

[Term]
id: MONDO:0010627
name: X-linked lymphoproliferative syndrome
def: "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." [Orphanet:2442]
comment: Editor note: two OMIMPS
subset: gard_rare
subset: ordo_disease {source="Orphanet:2442"}
subset: prototype_pattern
synonym: "Duncan disease" EXACT [Orphanet:2442]
synonym: "lymphoproliferative syndrome X-linked 1" RELATED [GARD:0007906]
synonym: "lymphoproliferative syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [GARD:0007906, MONDO:Lexical, OMIM:308240]
synonym: "lymphoproliferative syndrome, X-linked, type 1" EXACT [MONDORULE:1, OMIM:308240]
synonym: "Purtilo syndrome" EXACT [Orphanet:2442]
synonym: "SH2D1A-related lymphoproliferative disease, X-linked" RELATED [GARD:0007906]
synonym: "X-linked lymphoproliferative disease" RELATED [Orphanet:2442]
synonym: "X-linked lymphoproliferative syndrome" EXACT [NCIT:C61246]
synonym: "X-linked lymphoproliferative syndrome 1" RELATED [DOID:0060705]
synonym: "X-linked lymphoproliferative syndrome type 1" EXACT [DOID:0060705, MONDORULE:1]
synonym: "XLP" EXACT [Orphanet:2442]
synonym: "XLP1" EXACT [DOID:0060705]
xref: DOID:0060705 {source="MONDO:equivalentTo"}
xref: GARD:0007906 {source="MONDO:equivalentTo"}
xref: ICD10:D82.3 {source="ORDO:2442/e", source="Orphanet:2442", source="ORDO:2442/specific", source="DOID:0060705"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068348 {source="ORDO:2442/e", source="Orphanet:2442"}
xref: NCIT:C61246 {source="MONDO:equivalentTo"}
xref: Orphanet:2442 {source="MONDO:equivalentTo", source="GARD:0007906", source="OMIM:308240"}
xref: SCTID:77121009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0549463 {source="ORDO:2442/e", source="Orphanet:2442", source="MONDO:equivalentTo", source="OMIM:308240", source="NCIT:C61246"}
is_a: MONDO:0000425 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! X-linked disease
is_a: MONDO:0015541 {source="Orphanet:2442"} ! genetic hemophagocytic lymphohistiocytosis
is_a: MONDO:0016537 {source="DC-OMIM:308240", source="DOID:0060705", source="MONDO:Redundant", source="Orphanet:2442"} ! lymphoproliferative syndrome
is_a: MONDO:0021094 {source="NCIT:C61246", source="linkedlifedata", source="linkedlifedata/inferred"} ! immunodeficiency disease
property_value: exactMatch DOID:0060705
property_value: exactMatch http://identifiers.org/meddra/10068348
property_value: exactMatch http://identifiers.org/snomedct/77121009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549463
property_value: exactMatch NCIT:C61246
property_value: exactMatch Orphanet:2442
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 xsd:anyURI {source="GARD:0007906"}

[Term]
id: MONDO:0010628
name: immunoglobulin M, level of
synonym: "immunoglobulin M, level of" EXACT [OMIM:308250]
xref: OMIM:308250 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839966
property_value: exactMatch http://identifiers.org/omim/308250

[Term]
id: MONDO:0010629
name: impacted teeth, multiple
synonym: "impacted teeth, multiple" EXACT [OMIM:308280]
xref: OMIM:308280 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839965
property_value: exactMatch http://identifiers.org/omim/308280

[Term]
id: MONDO:0010630
name: imprinting gene related to retinoblastoma
synonym: "imprinting gene related to retinoblastoma" EXACT [OMIM:308290]
xref: OMIM:308290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839964
property_value: exactMatch http://identifiers.org/omim/308290

[Term]
id: MONDO:0010631
name: incontinentia pigmenti
def: "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." [Orphanet:464]
subset: ordo_malformation_syndrome {source="Orphanet:464"}
synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464]
synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464]
synonym: "incontinentia pigmenti" EXACT [MONDO:Lexical, OMIM:308300]
synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305]
synonym: "Incontinentia pigmenti type 2 (formerly)" RELATED [GARD:0006778]
synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [OMIM:308300]
synonym: "Incontinentia pigmenti, type II" RELATED [OMIM:308300]
synonym: "Incontinentia pigmenti, type II, formerly" RELATED [OMIM:308300]
synonym: "incontinentia pigmenti; IP" RELATED [OMIM:308300]
synonym: "IP" RELATED [MONDO:Lexical, OMIM:308300]
synonym: "IP2 (formerly)" RELATED [GARD:0006778]
xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"}
xref: EFO:1000672 {source="MONDO:equivalentTo"}
xref: GARD:0006778 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.3 {source="DOID:12305", source="ORDO:464/e", source="ORDO:464/specific", source="Orphanet:464"}
xref: MESH:D007184 {source="DOID:12305", source="MONDO:equivalentTo", source="ORDO:464/e", source="Orphanet:464"}
xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"}
xref: OMIM:308300 {source="DOID:12305", source="MONDO:equivalentTo", source="ORDO:464/e", source="Orphanet:464"}
xref: Orphanet:464 {source="MONDO:equivalentTo", source="OMIM:308300"}
xref: SCTID:367520004 {source="DOID:12305", source="MONDO:equivalentTo"}
xref: UMLS:C0021171 {source="DOID:12305", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:464"}
xref: Wikipedia:Incongenita_pigmenti {source="EFO:1000672"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015651 {source="Orphanet:464"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019287 {source="Orphanet:464"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019288 ! skin pigmentation disease
is_a: MONDO:0020014 {source="Orphanet:464"} ! rare disease with odontological manifestation
is_a: MONDO:0020233 {source="Orphanet:464"} ! dentocutaneous disease with cataract
is_a: MONDO:0020247 {source="Orphanet:464"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0020276 {source="Orphanet:464"} ! pigmentation disorder with eye involvement, excluding albinism
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020174 {source="Orphanet:464"} ! precancerous lesion of palpebral epidermis
property_value: closeMatch http://identifiers.org/snomedct/205567005
property_value: closeMatch http://identifiers.org/snomedct/806001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930820
property_value: exactMatch DOID:12305
property_value: exactMatch http://identifiers.org/mesh/D007184
property_value: exactMatch http://identifiers.org/omim/308300
property_value: exactMatch http://identifiers.org/snomedct/367520004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021171
property_value: exactMatch NCIT:C84787
property_value: exactMatch Orphanet:464

[Term]
id: MONDO:0010632
name: epileptic encephalopathy, early infantile, 1
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "arx early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy caused by mutation in ARX" EXACT []
synonym: "early infantile epileptic encephalopathy caused by mutation in arx" EXACT [MONDO:design_pattern]
synonym: "EIEE1" RELATED [MONDO:Lexical, OMIM:308350]
synonym: "epileptic encephalopathy, early infantile, 1" EXACT [MONDO:Lexical, OMIM:308350]
synonym: "epileptic encephalopathy, early infantile, 1; EIEE1" RELATED [OMIM:308350]
synonym: "epileptic encephalopathy, early infantile, type 1" EXACT [MONDORULE:1, OMIM:308350]
synonym: "infantile epileptic-dyskinetic encephalopathy" RELATED [OMIM:308350]
synonym: "infantile spasm syndrome, X-linked 1" RELATED [OMIM:308350]
synonym: "Ohtahara syndrome, X-linked" RELATED [OMIM:308350]
synonym: "West syndrome, X-linked" RELATED [OMIM:308350]
synonym: "XMESID" RELATED [OMIM:308350]
xref: OMIM:308350 {source="MONDO:equivalentTo"}
xref: UMLS:C3463992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308350"}
is_a: MONDO:0016021 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/308350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463992

[Term]
id: MONDO:0010633
name: iris hypoplasia with glaucoma
subset: gard_rare
synonym: "IHG" RELATED [GARD:0009171, MESH:C535538, MONDO:Lexical, OMIM:308500]
synonym: "iris hypoplasia and glaucoma" RELATED [GARD:0009171]
synonym: "iris hypoplasia with glaucoma" EXACT [MESH:C535538, MONDO:Lexical, OMIM:308500]
synonym: "iris hypoplasia with glaucoma; IHG" RELATED [OMIM:308500]
xref: GARD:0009171 {source="MONDO:equivalentTo"}
xref: MESH:C535538 {source="MONDO:equivalentTo"}
xref: OMIM:308500 {source="GARD:0009171", source="MONDO:equivalentTo"}
xref: UMLS:C1839928 {source="OMIM:308500", source="GARD:0009171", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005283 {source="MESH:C535538"} ! retinal disease
is_a: MONDO:0018174 ! hereditary glaucoma
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C535538
property_value: exactMatch http://identifiers.org/omim/308500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839928
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma xsd:anyURI {source="GARD:0009171"}

[Term]
id: MONDO:0010634
name: jaundice, familial obstructive, of infancy
synonym: "jaundice, familial obstructive, of infancy" EXACT [OMIM:308600]
xref: MESH:C564118 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:308600 {source="MONDO:equivalentTo"}
xref: UMLS:C1839927 {source="OMIM:308600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564118
property_value: exactMatch http://identifiers.org/omim/308600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839927

[Term]
id: MONDO:0010635
name: hypogonadotropic hypogonadism 1 with or without anosmia
def: "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." [NCIT:C75480]
subset: gard_rare
synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "anosmic hypogonadism" RELATED [OMIM:308700]
synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700]
synonym: "dysplasia olfactogenitalis of de Morsier" EXACT [DOID:0090094]
synonym: "HH1" RELATED [MONDO:Lexical, OMIM:308700]
synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT [MONDO:Lexical, OMIM:308700]
synonym: "hypogonadotropic hypogonadism 1 with or without anosmia; HH1" RELATED [OMIM:308700]
synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [OMIM:308700]
synonym: "hypogonadotropic hypogonadism caused by mutation in ANOS1" EXACT [MONDO:design_pattern]
synonym: "KAL1" RELATED [GARD:0003071]
synonym: "Kallmann syndrome 1" RELATED [OMIM:308700]
synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071]
synonym: "Kallmann syndrome, X-linked" RELATED [GARD:0003071]
synonym: "KMS" RELATED [OMIM:308700]
xref: DOID:0090094 {source="MONDO:equivalentTo"}
xref: GARD:0003071 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090094"}
xref: NCIT:C75480 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.80/0.44/0.91"}
xref: OMIM:308700 {source="MONDO:equivalentTo", source="GARD:0003071", source="DOID:0090094"}
xref: UMLS:C1563719 {source="OMIM:308700", source="NCBI:mim2gene_medline", source="NCIT:C75480", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="MONDOLEX:0010635", source="NCIT:C75480", source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090094
property_value: exactMatch http://identifiers.org/omim/308700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1563719
property_value: exactMatch NCIT:C75480

[Term]
id: MONDO:0010636
name: Kallmann syndrome with spastic paraplegia
synonym: "Kallmann syndrome with spastic paraplegia" EXACT [OMIM:308750]
synonym: "spastic paraplegia-Kallmann syndrome" RELATED [OMIM:308750]
xref: MESH:C536873 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:308750 {source="MONDO:equivalentTo"}
xref: UMLS:C1839911 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308750"}
is_a: MONDO:0003847 {source="MESH:C536873/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536873
property_value: exactMatch http://identifiers.org/omim/308750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839911

[Term]
id: MONDO:0010637
name: keratosis follicularis spinulosa decalvans, X-linked
synonym: "keratosis follicularis spinulosa decalvans" RELATED [MESH:C536159]
synonym: "keratosis follicularis Spinulosa decalvans cum Ophiasi" RELATED [OMIM:308800]
synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" RELATED [MESH:C536159]
synonym: "keratosis follicularis spinulosa decalvans, X-linked" EXACT [MONDO:Lexical, OMIM:308800]
synonym: "keratosis follicularis SPINULOSA decalvans, X-linked; KFSDX" RELATED [OMIM:308800]
synonym: "KFSDX" RELATED [MONDO:Lexical, OMIM:308800]
synonym: "Kfsdx" RELATED [MESH:C536159]
xref: MESH:C536159 {source="MONDO:equivalentTo"}
xref: OMIM:308800 {source="MONDO:equivalentTo"}
xref: UMLS:C3887525 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000136 {source="DC-OMIM:308800", source="MONDOLEX:0010637"} ! keratosis follicularis spinulosa decalvans
property_value: exactMatch http://identifiers.org/mesh/C536159
property_value: exactMatch http://identifiers.org/omim/308800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887525

[Term]
id: MONDO:0010638
name: keratosis follicularis-dwarfism-cerebral atrophy syndrome
def: "Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." [Orphanet:2339]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2339"}
synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099]
synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099]
synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830]
xref: GARD:0003099 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:2339/attributed", source="ORDO:2339/ntbt", source="Orphanet:2339"}
xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e", source="MONDO:ontobio"}
xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e", source="GARD:0003099"}
xref: Orphanet:2339 {source="OMIM:308830", source="MONDO:equivalentTo", source="GARD:0003099"}
xref: UMLS:C1839910 {source="OMIM:308830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e", source="GARD:0003099"}
is_a: MONDO:0019274 {source="Orphanet:2339"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:2339"} ! other genetic epidermal disease
is_a: MONDO:0020119 {source="Orphanet:2339"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C536158
property_value: exactMatch http://identifiers.org/omim/308830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839910
property_value: exactMatch Orphanet:2339
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy xsd:anyURI {source="GARD:0003099"}

[Term]
id: MONDO:0010639
name: laryngeal abductor paralysis-intellectual disability syndrome
def: "Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." [Orphanet:2375]
comment: X linked version based on information from Joanna. {source="OMIM:308850"}
subset: ordo_malformation_syndrome {source="Orphanet:2375"}
synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850]
synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375]
synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850]
xref: ICD10:J38.0 {source="Orphanet:2375", source="ORDO:2375/attributed", source="ORDO:2375/ntbt"}
xref: OMIM:308850 {source="Orphanet:2375", source="ORDO:2375/e", source="MONDO:equivalentTo"}
xref: Orphanet:2375 {source="MONDO:equivalentTo", source="OMIM:308850"}
xref: SCTID:724178000 {source="MONDO:equivalentTo"}
xref: UMLS:CN201604 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0020119 {source="Orphanet:2375"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/308850
property_value: exactMatch http://identifiers.org/snomedct/724178000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201604
property_value: exactMatch Orphanet:2375

[Term]
id: MONDO:0010640
name: Leber optic atrophy, susceptibility to
subset: predisposition
synonym: "Leber hereditary optic neuropathy, modifier of" RELATED [OMIM:308905]
synonym: "Leber optic atrophy, susceptibility to" EXACT [OMIM:308905]
synonym: "Lhon, modifier of" RELATED [OMIM:308905]
synonym: "Loas" RELATED [OMIM:308905]
xref: OMIM:308905 {source="MONDO:equivalentTo"}
is_a: MONDO:0010788 {source="MONDOLEX:0010640", source="ORDO:104/btnt"} ! Leber hereditary optic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839891
property_value: exactMatch http://identifiers.org/omim/308905

[Term]
id: MONDO:0010641
name: X-linked diffuse leiomyomatosis-Alport syndrome
def: "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families." [Orphanet:1018]
subset: ordo_disease {source="Orphanet:1018"}
synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940]
synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432]
synonym: "ATS-DL" RELATED [GARD:0002432]
synonym: "chromosome Xq22.3 centromeric deletion syndrome" RELATED [OMIM:308940]
synonym: "diffuse leiomyomatosis in Alport syndrome" RELATED [GARD:0002432]
synonym: "DL-ATS" RELATED [MONDO:Lexical, OMIM:308940]
synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, OMIM:308940]
synonym: "leiomyomatosis, diffuse, with Alport syndrome; DL-ATS" RELATED [OMIM:308940]
synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940]
synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018]
xref: GARD:0002432 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1018/attributed", source="ORDO:1018/ntbt", source="Orphanet:1018"}
xref: MESH:C537113 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:308940 {source="MONDO:equivalentTo", source="ORDO:1018/e", source="Orphanet:1018"}
xref: Orphanet:1018 {source="OMIM:308940", source="MONDO:equivalentTo"}
is_a: MONDO:0017007 {source="Orphanet:1018"} ! partial deletion of the long arm of chromosome X
is_a: MONDO:0019723 {source="Orphanet:1018"} ! disease of glomerular basement membrane
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839884
property_value: exactMatch http://identifiers.org/mesh/C537113
property_value: exactMatch http://identifiers.org/omim/308940
property_value: exactMatch Orphanet:1018

[Term]
id: MONDO:0010642
name: Lesch-Nyhan phenotype with normal HGPRT
synonym: "Lesch-Nyhan phenotype with normal HGPRT" EXACT [OMIM:308950]
xref: OMIM:308950 {source="MONDO:equivalentTo"}
is_a: MONDO:0010298 ! Lesch-Nyhan syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839883
property_value: exactMatch http://identifiers.org/omim/308950

[Term]
id: MONDO:0010643
name: acute leukemia (disease)
def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300]
synonym: "acute leukemia" EXACT [MONDO:ambiguous, NCIT:C9300]
synonym: "leukemia, acute, X-linked" RELATED [OMIM:308960]
synonym: "stem cell leukaemia" EXACT [DOID:12603]
synonym: "stem cell leukemia" EXACT [DOID:12603, NCIT:C9298]
synonym: "stem cell leukemia (disease)" EXACT [MONDO:patterns/location]
xref: COHD:138708 {source="MONDO:equivalentTo"}
xref: DOID:12603 {source="MONDO:equivalentTo"}
xref: EFO:1000068 {source="MONDO:equivalentTo"}
xref: HP:0002488 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C95.0 {source="DOID:12603"}
xref: ICD10:C95.00 {source="DOID:12603"}
xref: ICD9:208.0 {source="DOID:12603"}
xref: ICD9:208.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9801/3 {source="NCIT:C9300"}
xref: MESH:C564112 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9300 {source="DOID:12603", source="MONDO:equivalentTo", source="EFO:1000068"}
xref: OMIM:308960 {source="DOID:12603", source="MONDO:equivalentTo"}
xref: SCTID:91855006 {source="DOID:12603", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.23"}
is_a: MONDO:0005059 {source="DOID:12603", source="EFO:1000068", source="MESH:C564112", source="MONDO:Entailed", source="NCIT:C9300", source="linkedlifedata"} ! leukemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/154599000
property_value: closeMatch http://identifiers.org/snomedct/188763007
property_value: closeMatch http://identifiers.org/snomedct/24072005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085669
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1378511
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839882
property_value: exactMatch DOID:12603
property_value: exactMatch http://identifiers.org/mesh/C564112
property_value: exactMatch http://identifiers.org/omim/308960
property_value: exactMatch http://identifiers.org/snomedct/91855006
property_value: exactMatch NCIT:C9300

[Term]
id: MONDO:0010644
name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations
synonym: "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" EXACT [OMIM:308990]
xref: OMIM:308990 {source="MONDO:equivalentTo"}
xref: UMLS:C1839874 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308990"}
is_a: MONDO:0003634 {source="MONDO:cjm"} ! proteinuria
property_value: exactMatch http://identifiers.org/omim/308990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839874

[Term]
id: MONDO:0010645
name: oculocerebrorenal syndrome
def: "oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534]
subset: ordo_malformation_syndrome {source="Orphanet:534"}
synonym: "Lowe disease" EXACT [Orphanet:534]
synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534]
synonym: "Lowe oculocerebrorenal syndrome" EXACT [DOID:1056]
synonym: "Lowe oculocerebrorenal syndrome" RELATED [MONDO:Lexical, OMIM:309000]
synonym: "Lowe oculocerebrorenal syndrome; OCRL" RELATED [OMIM:309000]
synonym: "Lowe syndrome" EXACT [DOID:1056, OMIM:309000, Orphanet:534]
synonym: "OCR" EXACT [Orphanet:534]
synonym: "OCRL" EXACT [MONDO:Lexical, OMIM:309000, Orphanet:534]
synonym: "Ocrl1" RELATED [OMIM:309000]
synonym: "oculo-cerebro-renal dystrophy" EXACT [Orphanet:534]
synonym: "oculo-cerebro-renal syndrome" EXACT [Orphanet:534]
synonym: "oculocerebrorenal dystrophy" EXACT [Orphanet:534]
synonym: "oculocerebrorenal syndrome of Lowe" EXACT [CSP2005:1849-1861, DOID:1056]
synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [Orphanet:534]
synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000]
xref: DOID:1056 {source="MONDO:equivalentTo"}
xref: GARD:0003295 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.0 {source="Orphanet:534", source="ORDO:534/inclusion", source="ORDO:534/ntbt"}
xref: ICD10:E72.03 {source="DOID:1056"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051707 {source="Orphanet:534", source="ORDO:534/e"}
xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:534/e"}
xref: NCIT:C84940 {source="DOID:1056", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="ORDO:534/e"}
xref: Orphanet:534 {source="MONDO:equivalentTo", source="OMIM:309000"}
xref: SCTID:79385002 {source="DOID:1056", source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: UMLS:C0028860 {source="DOID:1056", source="Orphanet:534", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309000", source="NCIT:C84940", source="ORDO:534/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:534"} ! syndromic developmental defect of the eye
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015920 {source="Orphanet:534"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019216 {source="Orphanet:534", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport
is_a: MONDO:0019744 {source="Orphanet:534"} ! rare renal tubular disease
is_a: MONDO:0020222 {source="Orphanet:534"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020230 {source="Orphanet:534"} ! renal disease with cataract
is_a: MONDO:0020280 {source="Orphanet:534"} ! metabolic disease with cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713392
property_value: exactMatch DOID:1056
property_value: exactMatch http://identifiers.org/meddra/10051707
property_value: exactMatch http://identifiers.org/mesh/D009800
property_value: exactMatch http://identifiers.org/omim/309000
property_value: exactMatch http://identifiers.org/snomedct/79385002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028860
property_value: exactMatch NCIT:C84940
property_value: exactMatch Orphanet:534

[Term]
id: MONDO:0010646
name: macular dystrophy, X-linked
synonym: "macular dystrophy, X-linked" EXACT [OMIM:309100]
xref: MESH:C564110 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309100 {source="MONDO:equivalentTo"}
xref: UMLS:C1839842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309100"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0020242 ! genetic macular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C564110
property_value: exactMatch http://identifiers.org/omim/309100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839842

[Term]
id: MONDO:0010647
name: spermatogenic failure, X-linked, 2
def: "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in TEX11" EXACT [MONDO:design_pattern]
synonym: "Male infertility from defect in meiosis" RELATED [OMIM:309120]
synonym: "spermatogenic failure, X-linked, 2" EXACT [MONDO:Lexical, OMIM:309120]
synonym: "spermatogenic failure, X-linked, 2; SPGFX2" RELATED [OMIM:309120]
synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1, OMIM:309120]
synonym: "SPGFX2" RELATED [MONDO:Lexical, OMIM:309120]
synonym: "TEX11 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070185 {source="MONDO:equivalentTo"}
xref: OMIM:309120 {source="MONDO:equivalentTo"}
xref: UMLS:C1839841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309120"}
is_a: MONDO:0004983 {source="DC-OMIM:309120", source="MONDO:Redundant", source="OMIM:309120"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070185
property_value: exactMatch http://identifiers.org/omim/309120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839841

[Term]
id: MONDO:0010648
name: major affective disorder 2
synonym: "bipolar affective disorder" RELATED [OMIM:309200]
synonym: "MAFD2" EXACT [MONDO:Lexical, OMIM:309200]
synonym: "major affective disorder 2" RELATED [OMIM:309200]
synonym: "MAJOR affective disorder 2; MAFD2" RELATED [OMIM:309200]
synonym: "manic-depressive illness" RELATED [OMIM:309200]
synonym: "manic-depressive psychosis, X-linked" RELATED [OMIM:309200]
xref: DOID:0080221 {source="MONDO:equivalentTo"}
xref: MESH:C564108 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309200 {source="DOID:0080221", source="MONDO:equivalentTo"}
is_a: MONDO:0000693 {source="DOID:0080221"} ! bipolar II disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839839
property_value: exactMatch DOID:0080221
property_value: exactMatch http://identifiers.org/mesh/C564108
property_value: exactMatch http://identifiers.org/omim/309200

[Term]
id: MONDO:0010649
name: isolated congenital megalocornea
def: "12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." [Orphanet:91489]
subset: ordo_morphological_anomaly {source="Orphanet:91489"}
synonym: "congenital anterior megalophthalmia" EXACT [Orphanet:91489]
synonym: "megalocornea" RELATED [MONDO:Lexical, OMIM:309300]
synonym: "megalocornea; MGC1" RELATED [OMIM:309300]
synonym: "MGC1" RELATED [MONDO:Lexical, OMIM:309300]
synonym: "Mgcn" RELATED [OMIM:309300]
xref: GARD:0012648 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q15.8 {source="ORDO:91489/attributed", source="ORDO:91489/ntbt", source="Orphanet:91489"}
xref: OMIM:309300 {source="MONDO:equivalentTo", source="ORDO:91489/e", source="Orphanet:91489"}
xref: Orphanet:91489 {source="MONDO:equivalentTo", source="OMIM:309300"}
xref: SCTID:734026006 {source="MONDO:equivalentTo"}
is_a: MONDO:0009576 {source="DC-OMIM:309300"} ! megalocornea (disease)
is_a: MONDO:0020219 {source="Orphanet:91489"} ! corneogoniodysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344530
property_value: exactMatch http://identifiers.org/omim/309300
property_value: exactMatch http://identifiers.org/snomedct/734026006
property_value: exactMatch Orphanet:91489

[Term]
id: MONDO:0010650
name: Melnick-Needles syndrome
def: "Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." [Orphanet:2484]
subset: gard_rare {source="GARD:0007011"}
subset: ordo_malformation_syndrome {source="Orphanet:2484"}
synonym: "Melnick-Needles osteodysplasty" EXACT [OMIM:309350, Orphanet:2484]
synonym: "Melnick-Needles syndrome" EXACT [MONDO:Lexical, OMIM:309350]
synonym: "MELNICK-NEEDLES syndrome; MNS" RELATED [OMIM:309350]
synonym: "MNS" RELATED [MONDO:Lexical, OMIM:309350]
synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350]
xref: GARD:0007011 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:2484", source="ORDO:2484/attributed", source="ORDO:2484/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10060908 {source="Orphanet:2484", source="ORDO:2484/e"}
xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source="ORDO:2484/e"}
xref: Orphanet:2484 {source="MONDO:equivalentTo", source="OMIM:309350"}
xref: SCTID:13449007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0025237 {source="Orphanet:2484", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309350", source="ORDO:2484/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:2484"} ! syndromic developmental defect of the eye
is_a: MONDO:0018233 {source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder
is_a: MONDO:0020119 {source="Orphanet:2484"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020222 {source="Orphanet:2484"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2484"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/meddra/10060908
property_value: exactMatch http://identifiers.org/omim/309350
property_value: exactMatch http://identifiers.org/snomedct/13449007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025237
property_value: exactMatch Orphanet:2484
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome xsd:anyURI {source="GARD:0007011"}

[Term]
id: MONDO:0010651
name: Menkes disease
def: "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." [Orphanet:565]
subset: gard_rare {source="GARD:0001521"}
subset: ordo_disease {source="Orphanet:565"}
synonym: "copper transport disease" BROAD [DOID:1838, OMIM:309400]
synonym: "kinky hair disease" EXACT [Orphanet:565]
synonym: "kinky hair syndrome" EXACT [Orphanet:565]
synonym: "MD" EXACT [Orphanet:565]
synonym: "Menkea syndrome" RELATED [GARD:0001521]
synonym: "Menkes disease" EXACT [OMIM:309400]
synonym: "Menkes kinky hair syndrome" EXACT [NCIT:C75486]
synonym: "Menkes kinky-hair syndrome" EXACT [DOID:1838]
synonym: "Menkes syndrome" EXACT [Orphanet:565]
synonym: "Mk" EXACT [OMIM:309400, Orphanet:565]
synonym: "MNK" EXACT [Orphanet:565]
synonym: "steely hair disease" EXACT [OMIM:309400, Orphanet:565]
synonym: "steely hair syndrome" EXACT [CSP2005:1849-5365, DOID:1838, Orphanet:565]
synonym: "Trichopoliodystrophy" EXACT [Orphanet:565]
synonym: "X-linked copper deficiency" EXACT [Orphanet:565]
xref: DOID:1838 {source="MONDO:equivalentTo"}
xref: GARD:0001521 {source="MONDO:equivalentTo"}
xref: ICD10:E83.0 {source="Orphanet:565", source="ORDO:565/inclusion", source="ORDO:565/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027294 {source="Orphanet:565", source="ORDO:565/e"}
xref: MESH:D007706 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1838"}
xref: NCIT:C75486 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1838"}
xref: OMIM:309400 {source="Orphanet:565", source="MONDO:equivalentTo", source="ORDO:565/e", source="DOID:1838"}
xref: Orphanet:565 {source="MONDO:equivalentTo", source="OMIM:309400"}
xref: SCTID:59178007 {source="MONDO:equivalentTo", source="DOID:1838", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022716 {source="Orphanet:565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75486", source="ORDO:565/e", source="DOID:1838", source="OMIM:309400"}
is_a: MONDO:0004689 {source="DOID:1838", source="MESH:D007706"} ! inborn metal metabolism disorder
is_a: MONDO:0015920 {source="Orphanet:565"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016400 {source="Orphanet:565"} ! metal transport or utilization disorder with epilepsy
is_a: MONDO:0017762 {source="Orphanet:565", source="linkedlifedata"} ! disorder of copper metabolism
is_a: MONDO:0019282 {source="Orphanet:565"} ! syndromic hair shaft abnormality
relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:565"} ! obsolete eyebrow/eyelashes structural anomaly
property_value: exactMatch DOID:1838
property_value: exactMatch http://identifiers.org/meddra/10027294
property_value: exactMatch http://identifiers.org/mesh/D007706
property_value: exactMatch http://identifiers.org/omim/309400
property_value: exactMatch http://identifiers.org/snomedct/59178007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022716
property_value: exactMatch NCIT:C75486
property_value: exactMatch Orphanet:565
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1521/menkes-disease xsd:anyURI {source="GARD:0001521"}

[Term]
id: MONDO:0010652
name: X-linked intellectual disability-seizures-psoriasis syndrome
def: "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." [Orphanet:3052]
subset: ordo_disease {source="Orphanet:3052"}
synonym: "mental retardation and psoriasis" RELATED [OMIM:309480]
synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" RELATED [GARD:0005238]
synonym: "Tranebjaerg Svejgaard syndrome" RELATED [GARD:0005238]
synonym: "Tranebjaerg-Svejgaard syndrome" EXACT [Orphanet:3052]
synonym: "X-linked intellectual disability - seizures - psoriasis" RELATED [GARD:0005238]
synonym: "X-linked mental retardation associated with psoriasis" RELATED [GARD:0005238]
xref: GARD:0005238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3052/attributed", source="ORDO:3052/ntbt", source="Orphanet:3052"}
xref: MESH:C536978 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309480 {source="MONDO:equivalentTo", source="ORDO:3052/e", source="Orphanet:3052"}
xref: Orphanet:3052 {source="MONDO:equivalentTo", source="OMIM:309480"}
xref: SCTID:719810000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0020119 {source="Orphanet:3052"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839801
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931381
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275610
property_value: exactMatch http://identifiers.org/mesh/C536978
property_value: exactMatch http://identifiers.org/omim/309480
property_value: exactMatch http://identifiers.org/snomedct/719810000
property_value: exactMatch Orphanet:3052

[Term]
id: MONDO:0010653
name: Renpenning syndrome
def: "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." [Orphanet:3242]
subset: ordo_malformation_syndrome {source="Orphanet:3242"}
synonym: "Golabi-Ito-Hall syndrome" EXACT [DOID:0060179, OMIM:309500]
synonym: "mental retardation, X-linked 55" RELATED [OMIM:309500]
synonym: "mental retardation, X-linked Renpenning type" RELATED [GARD:0009509]
synonym: "mental retardation, X-linked, Renpenning type" RELATED [OMIM:309500]
synonym: "mental retardation, X-linked, syndromic 3" RELATED [OMIM:309500]
synonym: "mental retardation, X-linked, syndromic 8" RELATED [OMIM:309500]
synonym: "mental retardation, X-linked, with spastic diplegia" RELATED [OMIM:309500]
synonym: "MRXS3" RELATED [GARD:0009509]
synonym: "MRXS8" RELATED [GARD:0009509]
synonym: "Renpenning syndrome 1" RELATED [MONDO:Lexical, OMIM:309500]
synonym: "Renpenning syndrome 1; RENS1" RELATED [OMIM:309500]
synonym: "Renpenning syndrome type 1" EXACT [MONDORULE:1, OMIM:309500]
synonym: "RENS1" RELATED [MONDO:Lexical, OMIM:309500]
synonym: "Sutherland-Haan syndrome" RELATED [GARD:0009509]
synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT [DOID:0060179, OMIM:309500]
synonym: "syndromic X-linked mental retardation 8" EXACT [DOID:0060179]
synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [DOID:0060179, Orphanet:3242]
synonym: "X-linked intellectual disability, Renpenning type" EXACT [DOID:0060179, Orphanet:3242]
synonym: "X-linked mental retardation Renpenning type" EXACT [DOID:0060179]
synonym: "X-linked mental retardation syndromic 3" RELATED [GARD:0009509]
synonym: "X-linked mental retardation with spastic diplegia" EXACT [DOID:0060179]
xref: DOID:0060179 {source="MONDO:equivalentTo"}
xref: GARD:0009509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.5 {source="DOID:0060179", source="ORDO:3242/attributed", source="ORDO:3242/ntbt", source="Orphanet:3242"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537761 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309500 {source="DOID:0060179", source="MONDO:equivalentTo", source="Orphanet:3242", source="ORDO:3242/e"}
xref: Orphanet:3242 {source="OMIM:309500", source="DOID:0060179", source="MONDO:equivalentTo"}
xref: SCTID:699669001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.14"}
xref: UMLS:C0796135 {source="OMIM:309500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3242"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015246 {source="Orphanet:3242"} ! syndromic anorectal malformation
is_a: MONDO:0020119 {source="DC-OMIM:309500", source="DOID:0060179", source="OMIM:309500", source="Orphanet:3242"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060179
property_value: exactMatch http://identifiers.org/mesh/C537761
property_value: exactMatch http://identifiers.org/omim/309500
property_value: exactMatch http://identifiers.org/snomedct/699669001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796135
property_value: exactMatch Orphanet:3242

[Term]
id: MONDO:0010654
name: Partington syndrome
def: "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." [GARD:0004235]
subset: ordo_malformation_syndrome {source="Orphanet:94083"}
synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235]
synonym: "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" RELATED [GARD:0004235]
synonym: "intellectual disability-dystonic movements-ataxia-seizures syndrome" RELATED [GARD:0004235]
synonym: "mental retardation, X-linked 36" RELATED [OMIM:309510]
synonym: "mental retardation, X-linked, syndromic 1" RELATED [OMIM:309510]
synonym: "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" RELATED [OMIM:309510]
synonym: "MRXS1" RELATED [GARD:0004235]
synonym: "Partington syndrome" EXACT [OMIM:309510]
synonym: "Partington X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:309510]
synonym: "Partington X-linked mental retardation syndrome; PRTS" RELATED [OMIM:309510]
synonym: "Partington-Mulley syndrome" EXACT [Orphanet:94083]
synonym: "PRTS" RELATED [MONDO:Lexical, OMIM:309510]
synonym: "X-linked intellectual disability-dystonia-dysarthria syndrome" EXACT [Orphanet:94083]
synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744]
xref: DOID:14744 {source="MONDO:equivalentTo"}
xref: GARD:0004235 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:309510 {source="MONDO:equivalentTo", source="ORDO:94083/e", source="Orphanet:94083", source="DOID:14744"}
xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"}
is_a: MONDO:0015921 {source="Orphanet:94083"} ! ARX-related epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="DC-OMIM:309510", source="DOID:14744", source="OMIM:309510", source="Orphanet:94083"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://identifiers.org/mesh/C562446
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220775
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796250
property_value: exactMatch DOID:14744
property_value: exactMatch http://identifiers.org/omim/309510
property_value: exactMatch Orphanet:94083

[Term]
id: MONDO:0010655
name: X-linked intellectual disability with marfanoid habitus
def: "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." [Orphanet:776]
subset: ordo_malformation_syndrome {source="Orphanet:776"}
synonym: "Lujan syndrome" EXACT [Orphanet:776]
synonym: "LUJAN-Fryns syndrome" RELATED [OMIM:309520]
synonym: "Lujan-Fryns syndrome" EXACT [Orphanet:776]
synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307]
synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED [OMIM:309520]
xref: GARD:0003307 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:776", source="ORDO:776/attributed", source="ORDO:776/ntbt"}
xref: MESH:C537724 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="ORDO:776/e"}
xref: Orphanet:776 {source="MONDO:equivalentTo", source="OMIM:309520"}
xref: SCTID:422437002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:776"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C537724
property_value: exactMatch http://identifiers.org/omim/309520
property_value: exactMatch http://identifiers.org/snomedct/422437002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796022
property_value: exactMatch Orphanet:776

[Term]
id: MONDO:0010656
name: intellectual disability, X-linked 1
def: "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." [NCIT:C133729]
synonym: "IQSEC2" RELATED [GARD:0013221]
synonym: "IQSEC2-related epilepsy" RELATED [GARD:0013221]
synonym: "IQSEC2-related intellectual disability" RELATED [GARD:0013221]
synonym: "mental retardation, X-linked 1" RELATED [MONDO:Lexical, OMIM:309530]
synonym: "mental retardation, X-linked 18" RELATED [OMIM:309530]
synonym: "mental retardation, X-linked 1; MRX1" RELATED [OMIM:309530]
synonym: "mental retardation, X-linked type 1" EXACT [MONDORULE:1, OMIM:309530]
synonym: "MRX" RELATED [OMIM:309530]
synonym: "MRX1" RELATED [MONDO:Lexical, OMIM:309530]
synonym: "X-linked intellectual disability 1" RELATED [GARD:0013221]
synonym: "X-linked intellectual disability 1/78" RELATED [GARD:0013221]
synonym: "X-linked intellectual disability 78" RELATED [GARD:0013221]
xref: GARD:0013221 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567906 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C133729 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:309530 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:309530", source="OMIM:309530"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1417263
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931498
property_value: exactMatch http://identifiers.org/mesh/C567906
property_value: exactMatch http://identifiers.org/omim/309530
property_value: exactMatch NCIT:C133729

[Term]
id: MONDO:0010657
name: methylmalonic acidemia with homocystinuria, type cblX
subset: ordo_clinical_subtype {source="Orphanet:369962"}
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [Orphanet:369962]
synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137]
synonym: "mental retardation, X-linked 3" RELATED [OMIM:309541]
synonym: "methylmalonic acidemia and homocysteinemia type cblX" RELATED [GARD:0013137]
synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:309541]
synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962]
xref: GARD:0013137 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.1 {source="Orphanet:369962", source="ORDO:369962/attributed", source="ORDO:369962/ntbt"}
xref: MESH:C563136 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309541 {source="Orphanet:369962", source="ORDO:369962/e", source="MONDO:equivalentTo"}
xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"}
xref: UMLS:C0796208 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309541"}
is_a: MONDO:0016826 {source="MONDOLEX:0010657", source="Orphanet:369962"} ! methylmalonic acidemia with homocystinuria
is_a: MONDO:0019181 {source="DC-OMIM:309541", source="OMIM:309541"} ! non-syndromic X-linked intellectual disability
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C563136
property_value: exactMatch http://identifiers.org/omim/309541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796208
property_value: exactMatch Orphanet:369962

[Term]
id: MONDO:0010658
name: syndromic X-linked intellectual disability 12
def: "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome." [Orphanet:85290]
subset: ordo_malformation_syndrome {source="Orphanet:85290"}
synonym: "mental retardation, X-linked, syndromic 12" EXACT [DOID:0060804, MONDO:Lexical, OMIM:309545]
synonym: "mental retardation, X-linked, syndromic 12; MRXS12" RELATED [OMIM:309545]
synonym: "MRXS12" RELATED [MONDO:Lexical, OMIM:309545]
synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2]
synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804]
xref: DOID:0060804 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:85290/attributed", source="ORDO:85290/ntbt", source="Orphanet:85290", source="DOID:0060804"}
xref: MESH:C564106 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309545 {source="ORDO:85290/e", source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804"}
xref: Orphanet:85290 {source="OMIM:309545", source="MONDO:equivalentTo", source="DOID:0060804"}
xref: SCTID:719009006 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1839792 {source="OMIM:309545", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:309545", source="DOID:0060804", source="OMIM:309545", source="Orphanet:85290"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060804
property_value: exactMatch http://identifiers.org/mesh/C564106
property_value: exactMatch http://identifiers.org/omim/309545
property_value: exactMatch http://identifiers.org/snomedct/719009006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839792
property_value: exactMatch Orphanet:85290

[Term]
id: MONDO:0010659
name: FRAXE intellectual disability
def: "FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." [Orphanet:100973]
subset: gard_rare
subset: ordo_disease {source="Orphanet:100973"}
synonym: "fragile site, folic acid type" RELATED [GARD:0002378]
synonym: "fragile XE syndrome" RELATED [GARD:0002378]
synonym: "FRAXE mental retardation syndrome" RELATED [OMIM:309548]
synonym: "FRAXE syndrome" RELATED [GARD:0002378]
synonym: "intellectual disability associated with fragile site FRAXE" EXACT [Orphanet:100973]
synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELATED [OMIM:309548]
synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED [GARD:0002378]
xref: GARD:0002378 {source="MONDO:equivalentTo"}
xref: OMIM:309548 {source="GARD:0002378", source="ORDO:100973/e", source="MONDO:equivalentTo", source="Orphanet:100973"}
xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"}
xref: SCTID:716709002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
xref: UMLS:C0751157 {source="NCBI:mim2gene_medline", source="OMIM:309548", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DC-OMIM:309548", source="Orphanet:100973"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/309548
property_value: exactMatch http://identifiers.org/snomedct/716709002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751157
property_value: exactMatch Orphanet:100973
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome xsd:anyURI {source="GARD:0002378"}

[Term]
id: MONDO:0010660
name: intellectual disability, X-linked 9
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FTSJ1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 44" RELATED [OMIM:309549]
synonym: "mental retardation, X-linked 9" RELATED [MONDO:Lexical, OMIM:309549]
synonym: "mental retardation, X-linked 9; MRX9" RELATED [OMIM:309549]
synonym: "mental retardation, X-linked type 9" EXACT [MONDORULE:1, OMIM:309549]
synonym: "MRX9" RELATED [MONDO:Lexical, OMIM:309549]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" EXACT [MONDO:design_pattern]
xref: MESH:C563137 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309549 {source="MONDO:equivalentTo"}
xref: UMLS:C0796215 {source="OMIM:309549", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DC-OMIM:309549", source="MONDO:Redundant", source="OMIM:309549"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563137
property_value: exactMatch http://identifiers.org/omim/309549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796215

[Term]
id: MONDO:0010661
name: severe X-linked intellectual disability, Gustavson type
def: "Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." [Orphanet:3078]
subset: ordo_malformation_syndrome {source="Orphanet:3078"}
synonym: "gust" RELATED [GARD:0005611]
synonym: "Gustavson syndrome" RELATED [OMIM:309555]
synonym: "mental retardation with optic atrophy, deafness, and seizures" RELATED [OMIM:309555]
synonym: "mental retardation X-linked severe Gustavson type" RELATED [GARD:0005611]
synonym: "X-linked mental retardation Gustavson type" RELATED [GARD:0005611]
xref: GARD:0005611 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:F72.9 {source="Orphanet:3078", source="ORDO:3078/attributed", source="ORDO:3078/ntbt"}
xref: MESH:C536759 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="ORDO:3078/e"}
xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"}
xref: SCTID:722213009 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C0795965 {source="OMIM:309555", source="Orphanet:3078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018609 {source="Orphanet:3078"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0020119 {source="Orphanet:3078"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536759
property_value: exactMatch http://identifiers.org/omim/309555
property_value: exactMatch http://identifiers.org/snomedct/722213009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795965
property_value: exactMatch Orphanet:3078

[Term]
id: MONDO:0010662
name: paraplegia-intellectual disability-hyperkeratosis syndrome
def: "Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." [Orphanet:2824]
subset: ordo_malformation_syndrome {source="Orphanet:2824"}
synonym: "Fitzsimmons-McLachlan-Gilbert syndrome" EXACT [Orphanet:2824]
synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [OMIM:309560]
xref: GARD:0002344 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G82.1 {source="ORDO:2824/attributed", source="ORDO:2824/ntbt", source="Orphanet:2824"}
xref: MESH:C537058 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309560 {source="MONDO:equivalentTo", source="ORDO:2824/e", source="Orphanet:2824"}
xref: Orphanet:2824 {source="MONDO:equivalentTo", source="OMIM:309560"}
xref: UMLS:C2745996 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2824/e", source="OMIM:309560", source="Orphanet:2824"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2824"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:2824"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537058
property_value: exactMatch http://identifiers.org/omim/309560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2745996
property_value: exactMatch Orphanet:2824

[Term]
id: MONDO:0010663
name: X-linked intellectual disability-hypotonic face syndrome
def: "Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." [Orphanet:73220]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:73220"}
synonym: "Carpenter-Waziri syndrome" RELATED [OMIM:309580]
synonym: "Chudley-Lowry syndrome" RELATED [OMIM:309580]
synonym: "Holmes-Gang syndrome" RELATED [OMIM:309580]
synonym: "JMS" RELATED [GARD:0000081]
synonym: "Juberg Marsidi syndrome" NARROW [GARD:0000081]
synonym: "Juberg-Marsidi mental retardation syndrome" NARROW [GARD:0000081]
synonym: "Juberg-Marsidi syndrome" NARROW [OMIM:309580]
synonym: "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1" RELATED [MONDO:Lexical, OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1; MRXHF1" RELATED [OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, type 1" EXACT [MONDORULE:1, OMIM:309580]
synonym: "mental Retradation, X-linked with Growth delay, deafness, Microgenitalism" RELATED [GARD:0000081]
synonym: "MRXHF1" RELATED [MONDO:Lexical, OMIM:309580]
synonym: "sfms" RELATED [OMIM:309580]
synonym: "Smith-Fineman-Myers syndrome 1" RELATED [OMIM:309580]
synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED [GARD:0000081]
synonym: "XLMR-hypotonic facies syndrome" RELATED [OMIM:309580]
xref: GARD:0000081 {source="MONDO:equivalentTo"}
xref: OMIM:309580 {source="Orphanet:73220", source="MONDO:equivalentTo", source="GARD:0000081", source="ORDO:73220/e"}
xref: Orphanet:73220 {source="MONDO:equivalentTo", source="OMIM:309580"}
xref: UMLS:CN205653 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016980 {source="Orphanet:73220"} ! ATR-X-related syndrome
property_value: exactMatch http://identifiers.org/omim/309580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205653
property_value: exactMatch Orphanet:73220

[Term]
id: MONDO:0010664
name: syndromic X-linked intellectual disability Snyder type
def: "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." [Orphanet:3063]
subset: ordo_disease {source="Orphanet:3063"}
synonym: "mental retardation, X-linked, Snyder-Robinson type" EXACT [DOID:0060802]
synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type" RELATED [MONDO:Lexical, OMIM:309583]
synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type; MRXSSR" RELATED [OMIM:309583]
synonym: "MRXSSR" RELATED [MONDO:Lexical, OMIM:309583]
synonym: "Snyder-Robinson mental retardation syndrome" EXACT [DOID:0060802, OMIM:309583]
synonym: "Snyder-Robinson syndrome" EXACT [DOID:0060802, Orphanet:3063]
synonym: "spermine synthase deficiency" EXACT [DOID:0060802]
synonym: "SRS" EXACT [DOID:0060802]
synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063]
synonym: "X-linked mental retardation Snyder-Robinson type" RELATED [GARD:0005615]
xref: DOID:0060802 {source="MONDO:equivalentTo"}
xref: GARD:0005615 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3063/attributed", source="ORDO:3063/ntbt", source="DOID:0060802", source="Orphanet:3063"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536678 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309583 {source="MONDO:equivalentTo", source="DOID:0060802", source="ORDO:3063/e", source="Orphanet:3063"}
xref: Orphanet:3063 {source="MONDO:equivalentTo", source="DOID:0060802", source="OMIM:309583"}
xref: SCTID:702416008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0796160 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309583", source="Orphanet:3063"}
is_a: MONDO:0020119 {source="DC-OMIM:309583", source="DOID:0060802", source="OMIM:309583", source="Orphanet:3063"} ! X-linked syndromic intellectual disability
property_value: exactMatch DOID:0060802
property_value: exactMatch http://identifiers.org/mesh/C536678
property_value: exactMatch http://identifiers.org/omim/309583
property_value: exactMatch http://identifiers.org/snomedct/702416008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796160
property_value: exactMatch Orphanet:3063

[Term]
id: MONDO:0010665
name: Wilson-Turner syndrome
def: "Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." [Orphanet:3459]
subset: gard_rare {source="GARD:0005579"}
subset: ordo_malformation_syndrome {source="Orphanet:3459"}
synonym: "mental retardation, X-linked, syndromic 6" EXACT [DOID:0060814]
synonym: "mental retardation, X-linked, syndromic 6 (formerly)" RELATED [GARD:0005579]
synonym: "mental retardation, X-linked, with gynecomastia and obesity" EXACT [DOID:0060814, OMIM:309585]
synonym: "mental retardation, X-linked, with gynecomastia and obesity (formerly)" RELATED [GARD:0005579]
synonym: "MRXS6" EXACT [DOID:0060814]
synonym: "Wilson Turner mental retardation syndrome (formerly)" RELATED [GARD:0005579]
synonym: "Wilson-TURNER X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:309585]
synonym: "Wilson-TURNER X-linked mental retardation syndrome; WTS" RELATED [OMIM:309585]
synonym: "WTS" EXACT [DOID:0060814, MONDO:Lexical, OMIM:309585, Orphanet:3459]
synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GARD:0005579]
synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459]
xref: DOID:0060814 {source="MONDO:equivalentTo"}
xref: GARD:0005579 {source="MONDO:equivalentTo"}
xref: MESH:C536708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="ORDO:3459/e", source="DOID:0060814"}
xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"}
xref: SCTID:719834005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016565 {source="Orphanet:3459"} ! syndromic genetic obesity
is_a: MONDO:0020119 {source="DC-OMIM:309585", source="DOID:0060814", source="OMIM:309585", source="Orphanet:3459"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839736
property_value: exactMatch DOID:0060814
property_value: exactMatch http://identifiers.org/mesh/C536708
property_value: exactMatch http://identifiers.org/omim/309585
property_value: exactMatch http://identifiers.org/snomedct/719834005
property_value: exactMatch Orphanet:3459
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome xsd:anyURI {source="GARD:0005579"}

[Term]
id: MONDO:0010666
name: Miles-Carpenter syndrome
def: "X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches." [Orphanet:85283]
subset: ordo_malformation_syndrome {source="Orphanet:85283"}
synonym: "MCS" EXACT [DOID:0060815, MONDO:Lexical, OMIM:309605]
synonym: "mental retardation, X-linked, syndromic 4" EXACT [DOID:0060815, OMIM:309605]
synonym: "mental retardation, X-linked, with congenital contractures and Low fingertip arches" RELATED [OMIM:309605]
synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT [DOID:0060815]
synonym: "Miles-CARPENTER X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:309605]
synonym: "Miles-CARPENTER X-linked mental retardation syndrome; MCS" RELATED [OMIM:309605]
synonym: "moved to 314580" RELATED [OMIM:309605]
synonym: "MRXS4" EXACT [DOID:0060815]
synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815]
xref: DOID:0060815 {source="MONDO:equivalentTo"}
xref: GARD:0009984 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85283/attributed", source="ORDO:85283/ntbt", source="DOID:0060815", source="Orphanet:85283"}
xref: MESH:C537472 {source="MONDO:equivalentTo", source="ORDO:85283/e", source="MONDO:ontobio", source="DOID:0060815", source="Orphanet:85283"}
xref: OMIM:309605 {source="MONDO:equivalentTo", source="ORDO:85283/e", source="DOID:0060815"}
xref: Orphanet:85283 {source="MONDO:equivalentTo", source="OMIM:309605", source="DOID:0060815"}
xref: SCTID:719012009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85283"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:309605", source="DOID:0060815", source="Orphanet:85283"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060815
property_value: exactMatch http://identifiers.org/mesh/C537472
property_value: exactMatch http://identifiers.org/omim/309605
property_value: exactMatch http://identifiers.org/snomedct/719012009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839735
property_value: exactMatch Orphanet:85283

[Term]
id: MONDO:0010667
name: Prieto syndrome
def: "This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." [Orphanet:2958]
subset: ordo_malformation_syndrome {source="Orphanet:2958"}
synonym: "mental retardation, X-linked, syndromic 2" RELATED [OMIM:309610]
synonym: "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" RELATED [OMIM:309610]
synonym: "MRXS2" RELATED [GARD:0004482]
synonym: "Prieto X-linked mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:309610]
synonym: "Prieto X-linked mental retardation syndrome; PRS" RELATED [OMIM:309610]
synonym: "Prieto-Badia-Mulas syndrome" EXACT [DOID:0060805, Orphanet:2958]
synonym: "PRS" RELATED [MONDO:Lexical, OMIM:309610]
synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805]
xref: DOID:0060805 {source="MONDO:equivalentTo"}
xref: GARD:0004482 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535274 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C18058 {source="MONDO:equivalentTo"}
xref: OMIM:309610 {source="MONDO:equivalentTo", source="ORDO:2958/e", source="Orphanet:2958", source="DOID:0060805"}
xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source="DOID:0060805"}
xref: SCTID:719140001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
is_a: MONDO:0020119 {source="DC-OMIM:309610", source="DOID:0060805", source="OMIM:309610", source="Orphanet:2958"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839730
property_value: exactMatch DOID:0060805
property_value: exactMatch http://identifiers.org/mesh/C535274
property_value: exactMatch http://identifiers.org/omim/309610
property_value: exactMatch http://identifiers.org/snomedct/719140001
property_value: exactMatch NCIT:C18058
property_value: exactMatch Orphanet:2958

[Term]
id: MONDO:0010668
name: skeletal dysplasia-intellectual disability syndrome
def: "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." [Orphanet:1436]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1436"}
synonym: "Christian syndrome" EXACT [GARD:0003520, OMIM:309620, Orphanet:1436]
synonym: "mental retardation skeletal dysplasia abducens palsy" RELATED [GARD:0003520]
synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED [MONDO:Lexical, OMIM:309620]
synonym: "mental retardation, skeletal dysplasia, and abducens palsy; MRSD" RELATED [OMIM:309620]
synonym: "MRSD" RELATED [MONDO:Lexical, OMIM:309620]
synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436]
xref: GARD:0003520 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:1436/attributed", source="ORDO:1436/ntbt", source="Orphanet:1436"}
xref: MESH:C564101 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="ORDO:1436/e", source="Orphanet:1436"}
xref: Orphanet:1436 {source="GARD:0003520", source="MONDO:equivalentTo", source="OMIM:309620"}
xref: SCTID:722478008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.31"}
xref: UMLS:C1839729 {source="GARD:0003520", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309620"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015246 {source="Orphanet:1436"} ! syndromic anorectal malformation
is_a: MONDO:0019694 {source="Orphanet:1436"} ! spondylodysplastic dysplasia
is_a: MONDO:0020119 {source="Orphanet:1436"} ! X-linked syndromic intellectual disability
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C564101
property_value: exactMatch http://identifiers.org/omim/309620
property_value: exactMatch http://identifiers.org/snomedct/722478008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839729
property_value: exactMatch Orphanet:1436
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy xsd:anyURI {source="GARD:0003520"}

[Term]
id: MONDO:0010669
name: syndactyly type 8
def: "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." [Orphanet:2498]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:2498"}
synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498]
synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical, OMIM:309630]
synonym: "metacarpal 4-5 fusion; MF4" RELATED [OMIM:309630]
synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559]
synonym: "MF4" RELATED [MONDO:Lexical, OMIM:309630]
synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern]
xref: GARD:0003559 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.0 {source="Orphanet:2498", source="ORDO:2498/attributed", source="ORDO:2498/ntbt"}
xref: MESH:C564100 {source="MONDO:equivalentTo"}
xref: OMIM:309630 {source="Orphanet:2498", source="ORDO:2498/e", source="GARD:0003559", source="MONDO:equivalentTo"}
xref: Orphanet:2498 {source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"}
xref: SCTID:715442006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.82"}
xref: UMLS:C1839728 {source="Orphanet:2498", source="NCBI:mim2gene_medline", source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"}
is_a: MONDO:0019530 {source="MONDO:Redundant", source="Orphanet:2498"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/mesh/C564100
property_value: exactMatch http://identifiers.org/omim/309630
property_value: exactMatch http://identifiers.org/snomedct/715442006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839728
property_value: exactMatch Orphanet:2498
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion xsd:anyURI {source="GARD:0003559"}

[Term]
id: MONDO:0010670
name: X-linked intellectual disability-spastic quadriparesis syndrome
subset: ordo_disease {source="Orphanet:163982"}
synonym: "mental retardation with spastic paraplegia" RELATED [OMIM:309640]
xref: MESH:C564099 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="ORDO:163982/e"}
xref: Orphanet:163982 {source="MONDO:equivalentTo", source="OMIM:309640"}
xref: UMLS:C1839727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309640"}
is_a: MONDO:0020119 {source="Orphanet:163982"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564099
property_value: exactMatch http://identifiers.org/omim/309640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839727
property_value: exactMatch Orphanet:163982

[Term]
id: MONDO:0010671
name: microphthalmia, syndromic 1
synonym: "Lenz dysplasia" RELATED [OMIM:309800]
synonym: "Lenz microphthalmia syndrome" RELATED [OMIM:309800]
synonym: "Maa" RELATED [OMIM:309800]
synonym: "Maa, formerly" RELATED [OMIM:309800]
synonym: "MCOPS1" RELATED [MONDO:Lexical, OMIM:309800]
synonym: "microphthalmia, syndromic 1" EXACT [MONDO:Lexical, OMIM:309800]
synonym: "microphthalmia, syndromic 1; MCOPS1" RELATED [OMIM:309800]
synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1, OMIM:309800]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537464 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309800 {source="MONDO:equivalentTo"}
xref: SCTID:438504004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.57"}
is_a: MONDO:0018924 {source="MONDOLEX:0010671", source="ORDO:568/btnt"} ! microphthalmia, Lenz type
property_value: exactMatch http://identifiers.org/mesh/C537464
property_value: exactMatch http://identifiers.org/omim/309800
property_value: exactMatch http://identifiers.org/snomedct/438504004

[Term]
id: MONDO:0010672
name: microphthalmia with linear skin defects syndrome
def: "Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes ( microphthalmia ) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome]
comment: Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. {source="DC"}
subset: gard_rare {source="GARD:0003659"}
subset: ordo_malformation_syndrome {source="Orphanet:2556"}
synonym: "linear skin defects with multiple congenital anomalies" EXACT [OMIMPS:309801]
synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical, OMIM:309801]
synonym: "linear skin defects with multiple congenital anomalies type 1" EXACT [MONDORULE:1, OMIM:309801]
synonym: "LSDMCA1" RELATED [MONDO:Lexical, OMIM:309801]
synonym: "MCOPS7" EXACT [Orphanet:2556]
synonym: "microphthalmia dermal aplasia and sclerocornea syndrome" RELATED [GARD:0003659]
synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [Orphanet:2556]
synonym: "Micropthalmia syndromic 7" RELATED [GARD:0003659]
synonym: "MIDAS syndrome" EXACT [Orphanet:2556]
synonym: "MLS syndrome" EXACT [Orphanet:2556]
synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556]
xref: DC:0000705 {source="MONDO:equivalentTo"}
xref: GARD:0003659 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.2 {source="ORDO:2556/attributed", source="ORDO:2556/ntbt", source="Orphanet:2556"}
xref: MESH:C537466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:309801 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:309801", source="MONDO:equivalentTo"}
xref: SCTID:721879006 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015246 {source="Orphanet:2556"} ! syndromic anorectal malformation
is_a: MONDO:0015331 {source="Orphanet:2556"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0016073 {source="DC-OMIM:309801", source="MONDOLEX:0010672", source="Orphanet:2556"} ! syndromic microphthalmia
is_a: MONDO:0019294 {source="Orphanet:2556"} ! mixed dermis disorder
is_a: MONDO:0020119 {source="Orphanet:2556"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020222 {source="Orphanet:2556"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C537466
property_value: exactMatch http://identifiers.org/snomedct/721879006
property_value: exactMatch Orphanet:2556
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome xsd:anyURI {source="GARD:0003659"}

[Term]
id: MONDO:0010673
name: modifier, X-linked, for Neurofunctional defects
synonym: "modifier, X-linked, for Neurofunctional defects" EXACT [OMIM:309840]
synonym: "Tourette syndrome, modifier of" RELATED [OMIM:309840]
xref: MESH:C564098 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309840 {source="MONDO:equivalentTo"}
xref: UMLS:C1839708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309840"}
is_a: MONDO:0003847 {source="MESH:C564098/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564098
property_value: exactMatch http://identifiers.org/omim/309840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839708

[Term]
id: MONDO:0010674
name: mucopolysaccharidosis type 2
def: "Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." [Orphanet:580]
subset: ordo_disease {source="Orphanet:580"}
synonym: "attenuated MPS (subtype; formerly known as mild MPS II)" RELATED [GARD:0006675]
synonym: "deficiency of iduronate-2-sulphatase" EXACT [DOID:12799]
synonym: "Hunter syndrome" EXACT [DOID:12799, Orphanet:580]
synonym: "Hunter's syndrome" EXACT [DOID:12799]
synonym: "I2S deficiency" RELATED [GARD:0006675]
synonym: "Ids deficiency" RELATED [OMIM:309900]
synonym: "iduronate 2-sulfatase deficiency" EXACT [OMIM:309900, Orphanet:580]
synonym: "MPS 2" RELATED [OMIM:309900]
synonym: "MPS II" RELATED [GARD:0006675]
synonym: "MPS II - Hunter syndrome" EXACT [DOID:12799]
synonym: "MPS2" EXACT [MONDO:Lexical, OMIM:309900, Orphanet:580]
synonym: "MPSII" EXACT [Orphanet:580]
synonym: "mucopolysaccharidosis II" RELATED [DOID:12799]
synonym: "mucopolysaccharidosis type II" EXACT [DOID:12799, MONDORULE:3, Orphanet:580]
synonym: "mucopolysaccharidosis, MPS-II" EXACT [DOID:12799]
synonym: "mucopolysaccharidosis, type 2" RELATED [OMIM:309900]
synonym: "mucopolysaccharidosis, type II" RELATED [MONDO:Lexical, OMIM:309900]
synonym: "mucopolysaccharidosis, type II; MPS2" RELATED [OMIM:309900]
synonym: "severe MPS II" RELATED [GARD:0006675]
synonym: "Sids deficiency" RELATED [OMIM:309900]
synonym: "sulfoiduronate sulfatase deficiency" RELATED [OMIM:309900]
xref: DOID:12799 {source="MONDO:equivalentTo"}
xref: GARD:0006675 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580", source="ORDO:580/specific"}
xref: MedDRA:10056889 {source="ORDO:580/e", source="Orphanet:580"}
xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580", source="MONDO:ontobio"}
xref: NCIT:C61260 {source="DOID:12799", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:309900 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580"}
xref: Orphanet:580 {source="OMIM:309900", source="MONDO:equivalentTo"}
xref: SCTID:70737009 {source="DOID:12799", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.09"}
xref: UMLS:C0026705 {source="DOID:12799", source="NCBI:mim2gene_medline", source="OMIM:309900", source="MONDO:equivalentTo", source="NCIT:C61260", source="ORDO:580/e", source="Orphanet:580"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015920 {source="Orphanet:580"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016326 {source="Orphanet:580"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0019302 {source="Orphanet:580"} ! mucopolysaccharidosis with skin involvement
is_a: MONDO:0019706 {source="Orphanet:580"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020169 {source="Orphanet:580"} ! rare disorder with ptosis
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/190936000
property_value: closeMatch http://identifiers.org/snomedct/61413000
property_value: exactMatch DOID:12799
property_value: exactMatch http://identifiers.org/meddra/10056889
property_value: exactMatch http://identifiers.org/mesh/D016532
property_value: exactMatch http://identifiers.org/omim/309900
property_value: exactMatch http://identifiers.org/snomedct/70737009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2718304
property_value: exactMatch NCIT:C61260
property_value: exactMatch Orphanet:580

[Term]
id: MONDO:0010675
name: muscular dystrophy, cardiac type
synonym: "muscular dystrophy, cardiac type" EXACT [OMIM:309930]
xref: MESH:C563247 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309930 {source="MONDO:equivalentTo"}
xref: UMLS:C1442927 {source="OMIM:309930", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020121 {source="DC-OMIM:309930", source="MESH:C563247"} ! muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563247
property_value: exactMatch http://identifiers.org/omim/309930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1442927

[Term]
id: MONDO:0010676
name: muscular dystrophy, Hemizygous lethal type
synonym: "muscular dystrophy, Hemizygous lethal type" EXACT [OMIM:309950]
xref: MESH:C564097 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:309950 {source="MONDO:equivalentTo"}
xref: UMLS:C1839671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309950"}
is_a: MONDO:0020121 {source="DC-OMIM:309950", source="MESH:C564097/inferred"} ! muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C564097
property_value: exactMatch http://identifiers.org/omim/309950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839671

[Term]
id: MONDO:0010677
name: muscular dystrophy, Mabry type
synonym: "muscular dystrophy, Mabry type" EXACT [OMIM:310000]
xref: MESH:C564096 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:310000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839670 {source="OMIM:310000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020121 {source="DC-OMIM:310000", source="MESH:C564096"} ! muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C564096
property_value: exactMatch http://identifiers.org/omim/310000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839670

[Term]
id: MONDO:0010678
name: muscular dystrophy, progressive Pectorodorsal
synonym: "muscular dystrophy, progressive Pectorodorsal" EXACT [OMIM:310095]
synonym: "muscular dystrophy, progressive, involving shoulder girdle and back" RELATED [OMIM:310095]
xref: MESH:C564095 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:310095 {source="MONDO:equivalentTo"}
xref: UMLS:C1839669 {source="OMIM:310095", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020121 {source="DC-OMIM:310095", source="MESH:C564095"} ! muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C564095
property_value: exactMatch http://identifiers.org/omim/310095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839669

[Term]
id: MONDO:0010679
name: Duchenne muscular dystrophy
def: "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98896]
subset: gard_rare {source="GARD:0006291"}
subset: ordo_disease {source="Orphanet:98896"}
synonym: "DMD" EXACT [MONDO:Lexical, OMIM:310200, Orphanet:98896]
synonym: "Duchenne muscular dystrophy" EXACT [OMIM:310200]
synonym: "muscular dystrophy, Duchenne" EXACT [DOID:11723, MTHICD9_2006:359.1]
synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical, OMIM:310200]
synonym: "muscular dystrophy, Duchenne type; DMD" RELATED [OMIM:310200]
synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [OMIM:310200]
synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896]
xref: DOID:11723 {source="MONDO:equivalentTo"}
xref: GARD:0006291 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98896", source="ORDO:98896/inclusion", source="ORDO:98896/ntbt"}
xref: MedDRA:10013801 {source="Orphanet:98896", source="ORDO:98896/e"}
xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="ORDO:98896/e"}
xref: NCIT:C75482 {source="DOID:11723", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:310200 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="ORDO:98896/e"}
xref: Orphanet:98896 {source="MONDO:equivalentTo", source="OMIM:310200"}
xref: SCTID:76670001 {source="DOID:11723", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0013264 {source="DOID:11723", source="Orphanet:98896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310200", source="NCIT:C75482", source="ORDO:98896/e"}
is_a: MONDO:0010542 ! dilated cardiomyopathy 3B
is_a: MONDO:0016899 {source="Orphanet:98896"} ! Duchenne and Becker muscular dystrophy
is_a: MONDO:0020259 {source="Orphanet:98896"} ! myopathy with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/129619006
property_value: closeMatch http://identifiers.org/snomedct/155095006
property_value: closeMatch http://identifiers.org/snomedct/267712004
property_value: exactMatch DOID:11723
property_value: exactMatch http://identifiers.org/meddra/10013801
property_value: exactMatch http://identifiers.org/mesh/D020388
property_value: exactMatch http://identifiers.org/omim/310200
property_value: exactMatch http://identifiers.org/snomedct/76670001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013264
property_value: exactMatch NCIT:C75482
property_value: exactMatch Orphanet:98896
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy xsd:anyURI {source="GARD:0006291"}

[Term]
id: MONDO:0010680
name: X-linked Emery-Dreifuss muscular dystrophy
def: "X-linked form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/x_linked]
subset: ordo_etiological_subtype {source="Orphanet:98863"}
synonym: "EDMD1" EXACT [DOID:0070246, MONDO:Lexical, OMIM:310300, Orphanet:98863]
synonym: "EMD1" EXACT [DOID:0070246]
synonym: "Emerinopathy" EXACT [Orphanet:98863]
synonym: "EMERY-Dreifuss muscular dystrophy 1, X-linked" RELATED [MONDO:Lexical, OMIM:310300]
synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [DOID:0070246]
synonym: "EMERY-Dreifuss muscular dystrophy 1, X-linked; EDMD1" RELATED [OMIM:310300]
synonym: "Emery-Dreifuss muscular dystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "Humeroperoneal neuromuscular disease" RELATED [OMIM:310300]
synonym: "humeroperoneal neuromuscular disease" EXACT [DOID:0070246]
synonym: "Humeroperoneal neuromuscular disease, formerly" RELATED [OMIM:310300]
synonym: "muscular dystrophy, tardive Emery-Dreifuss type, with contractures" RELATED [GARD:0002102]
synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" EXACT [DOID:0070246]
synonym: "scapuloperoneal syndrome, X-linked" EXACT [DOID:0070246, OMIM:310300]
synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [OMIM:310300]
xref: DOID:0070246 {source="MONDO:equivalentTo"}
xref: GARD:0002102 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98863", source="ORDO:98863/attributed", source="ORDO:98863/ntbt"}
xref: OMIM:310300 {source="Orphanet:98863", source="MONDO:equivalentTo", source="DOID:0070246", source="ORDO:98863/e"}
xref: Orphanet:98863 {source="MONDO:equivalentTo", source="OMIM:310300"}
xref: UMLS:C0751337 {source="Orphanet:98863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310300", source="ORDO:98863/e"}
xref: UMLS:CN069573 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0016196 {source="Orphanet:98863"} ! qualitative or quantitative defects of emerin
is_a: MONDO:0016830 {source="DOID:0070246", source="MONDO:Redundant", source="OMIM:310300", source="Orphanet:98863", source="indirect"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931858
property_value: exactMatch DOID:0070246
property_value: exactMatch http://identifiers.org/omim/310300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069573
property_value: exactMatch Orphanet:98863

[Term]
id: MONDO:0010681
name: myelolymphatic insufficiency
synonym: "Myelolymphatic insufficiency" EXACT [OMIM:310350]
synonym: "Pelger-like anomaly with leukopenia and susceptibility to infections" RELATED [OMIM:310350]
xref: OMIM:310350 {source="MONDO:equivalentTo"}
xref: UMLS:C1839650 {source="OMIM:310350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/310350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839650

[Term]
id: MONDO:0010682
name: myoclonic epilepsy, progressive, X-linked
comment: TODO check
synonym: "myoclonic epilepsy, progressive" EXACT [OMIM:310370]
xref: OMIM:310370 {source="MONDO:equivalentTo"}
is_a: MONDO:0000414 ! childhood electroclinical syndrome
is_a: MONDO:0009698 {source="ORDO:308/btnt"} ! Unverricht-Lundborg syndrome
is_a: MONDO:0016022 {source="DC-OMIM:310370"} ! early myoclonic encephalopathy
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch http://identifiers.org/omim/310370

[Term]
id: MONDO:0010683
name: X-linked centronuclear myopathy
def: "X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:596]
subset: ordo_disease {source="Orphanet:596"}
synonym: "centronuclear myopathy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "CNMX" RELATED [MONDO:Lexical, OMIM:310400]
synonym: "MTM" EXACT [NCIT:C118781]
synonym: "myopathy, centronuclear, X-linked" RELATED [MONDO:Lexical, OMIM:310400]
synonym: "myopathy, centronuclear, X-linked; CNMX" RELATED [OMIM:310400]
synonym: "myotubular myopathy 1" RELATED [OMIM:310400]
synonym: "myotubular myopathy, X-linked" RELATED [OMIM:310400]
synonym: "X-linked myotubular myopathy" EXACT [Orphanet:596]
synonym: "XLCNM" EXACT [Orphanet:596]
synonym: "XLMTM" EXACT [Orphanet:596]
xref: GARD:0011925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:596/ntbt", source="ORDO:596/inclusion", source="Orphanet:596"}
xref: NCIT:C118781 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:310400 {source="MONDO:equivalentTo", source="ORDO:596/e", source="Orphanet:596"}
xref: Orphanet:596 {source="MONDO:equivalentTo", source="OMIM:310400"}
xref: SCTID:46804001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.67"}
xref: UMLS:C0410203 {source="NCIT:C118781", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310400", source="ORDO:596/e", source="Orphanet:596"}
is_a: MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400"} ! congenital structural myopathy
is_a: MONDO:0016154 {source="Orphanet:596"} ! qualitative or quantitative defects of myotubularin
is_a: MONDO:0018947 {source="DC-OMIM:310400", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596", source="linkedlifedata"} ! centronuclear myopathy
is_a: MONDO:0020119 {source="Orphanet:596"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C538647
property_value: exactMatch http://identifiers.org/omim/310400
property_value: exactMatch http://identifiers.org/snomedct/46804001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410203
property_value: exactMatch NCIT:C118781
property_value: exactMatch Orphanet:596

[Term]
id: MONDO:0010684
name: X-linked myopathy with excessive autophagy
def: "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings." [Orphanet:25980]
subset: gard_rare {source="GARD:0003892"}
subset: ordo_disease {source="Orphanet:25980"}
synonym: "MEAX" RELATED [MONDO:Lexical, OMIM:310440]
synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical, OMIM:310440]
synonym: "myopathy, X-linked, with excessive autophagy; MEAX" RELATED [OMIM:310440]
synonym: "vacuolar myopathy" EXACT [Orphanet:25980]
synonym: "XMEA" EXACT [DOID:0050760, OMIM:310440, Orphanet:25980]
xref: DOID:0050760 {source="MONDO:obsoleteEquivalent"}
xref: GARD:0003892 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="ORDO:25980/attributed", source="ORDO:25980/ntbt", source="Orphanet:25980"}
xref: MESH:C536522 {source="MONDO:equivalentTo"}
xref: OMIM:310440 {source="MONDO:equivalentTo", source="ORDO:25980/e", source="Orphanet:25980"}
xref: Orphanet:25980 {source="OMIM:310440", source="MONDO:equivalentTo"}
xref: SCTID:719815005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1839615 {source="OMIM:310440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:25980"}
xref: UMLS:C2931230 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:25980"}
is_a: MONDO:0016106 {source="Orphanet:25980"} ! progressive muscular dystrophy
is_a: MONDO:0016112 {source="Orphanet:25980"} ! inclusion myopathy
property_value: exactMatch DOID:0050760
property_value: exactMatch http://identifiers.org/mesh/C536522
property_value: exactMatch http://identifiers.org/omim/310440
property_value: exactMatch http://identifiers.org/snomedct/719815005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931230
property_value: exactMatch Orphanet:25980
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy xsd:anyURI {source="GARD:0003892"}

[Term]
id: MONDO:0010685
name: MYP1
synonym: "myopia 1, X-linked" RELATED [MONDO:Lexical, OMIM:310460]
synonym: "myopia 1, X-linked; MYP1" RELATED [OMIM:310460]
synonym: "MYP1" EXACT [MONDO:Lexical, OMIM:310460]
xref: MESH:C564091 {source="MONDO:equivalentTo"}
xref: OMIM:310460 {source="MONDO:equivalentTo"}
xref: UMLS:C1839612 {source="OMIM:310460", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:310460", source="MESH:C564091", source="OMIM:310460"} ! myopia (disease)
is_a: MONDO:0003847 {source="MESH:C564091/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564091
property_value: exactMatch http://identifiers.org/omim/310460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839612

[Term]
id: MONDO:0010686
name: N syndrome
def: "N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity." [Orphanet:2608]
subset: gard_rare {source="GARD:0003902"}
subset: ordo_malformation_syndrome {source="Orphanet:2608"}
synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902]
synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465]
synonym: "N syndrome; NSX" RELATED [OMIM:310465]
synonym: "NSX" EXACT [DOID:0050769, MONDO:Lexical, OMIM:310465]
xref: DOID:0050769 {source="MONDO:equivalentTo"}
xref: GARD:0003902 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2608/attributed", source="ORDO:2608/ntbt", source="Orphanet:2608"}
xref: MESH:C536108 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2608/e", source="Orphanet:2608"}
xref: OMIM:310465 {source="MONDO:equivalentTo", source="DOID:0050769", source="ORDO:2608/e", source="Orphanet:2608"}
xref: Orphanet:2608 {source="MONDO:equivalentTo", source="OMIM:310465", source="DOID:0050769"}
xref: SCTID:723410002 {source="MONDO:equivalentTo"}
xref: UMLS:C2936859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2608/e", source="Orphanet:2608"}
is_a: MONDO:0015159 {source="Orphanet:2608"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015356 {source="Orphanet:2608"} ! hereditary neoplastic syndrome
is_a: MONDO:0019589 {source="Orphanet:2608"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1417859
property_value: exactMatch DOID:0050769
property_value: exactMatch http://identifiers.org/mesh/C536108
property_value: exactMatch http://identifiers.org/omim/310465
property_value: exactMatch http://identifiers.org/snomedct/723410002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936859
property_value: exactMatch Orphanet:2608
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3902/n-syndrome xsd:anyURI {source="GARD:0003902"}

[Term]
id: MONDO:0010687
name: nephrolithiasis, X-linked recessive, with renal failure
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations
synonym: "nephrolithiasis 1" RELATED [OMIM:310468]
synonym: "nephrolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468]
synonym: "nephrolithiasis, X-linked recessive, with renal failure" EXACT [MONDO:Lexical, OMIM:310468]
synonym: "nephrolithiasis, X-linked recessive, with renal failure; XRN" RELATED [OMIM:310468]
synonym: "urolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468]
synonym: "XRN" RELATED [MONDO:Lexical, OMIM:310468]
xref: MESH:C562901 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:310468 {source="MONDO:equivalentTo"}
xref: SCTID:236713006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0008171 {source="MESH:C562901", source="MONDO:cjm"} ! nephrolithiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403720
property_value: exactMatch http://identifiers.org/mesh/C562901
property_value: exactMatch http://identifiers.org/omim/310468
property_value: exactMatch http://identifiers.org/snomedct/236713006

[Term]
id: MONDO:0010688
name: hereditary sensory neuropathy X-linked
def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." [DOID:0070159]
synonym: "neuropathy, hereditary sensory, X-linked" RELATED [OMIM:310470]
xref: DOID:0070159 {source="MONDO:equivalentTo"}
xref: MESH:C564090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:310470 {source="DOID:0070159", source="MONDO:equivalentTo"}
xref: UMLS:C1839602 {source="OMIM:310470", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015364 {source="DC-OMIM:310470", source="DOID:0070159", source="MESH:C564090", source="MONDOLEX:0010688"} ! hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070159
property_value: exactMatch http://identifiers.org/mesh/C564090
property_value: exactMatch http://identifiers.org/omim/310470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839602

[Term]
id: MONDO:0010689
name: Charcot-Marie-Tooth disease X-linked recessive 4
def: "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." [Orphanet:101078]
subset: ordo_disease {source="Orphanet:101078"}
synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT [DOID:0110212]
synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT [DOID:0110212, OMIM:310490]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 4" EXACT [DOID:0110212, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 4" EXACT [OMIM:310490]
synonym: "CMT4X" EXACT [DOID:0110212, Orphanet:101078]
synonym: "CMTX 4" EXACT [GARD:0001240]
synonym: "CMTX4" EXACT [DOID:0110212, Orphanet:101078]
synonym: "cowchock syndrome" EXACT [DOID:0110212, MONDO:Lexical, OMIM:310490, Orphanet:101078]
synonym: "cowchock syndrome; COWCK" EXACT [OMIM:310490]
synonym: "COWCK" EXACT [DOID:0110212, MONDO:Lexical, OMIM:310490]
synonym: "NADMR" EXACT [DOID:0110212, OMIM:310490]
synonym: "NAMSD" EXACT [DOID:0110212]
synonym: "neuropathy, axonal motor-sensory with deafness and mental retardation" RELATED [GARD:0001240]
synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED [OMIM:310490]
synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212]
xref: DOID:0110212 {source="MONDO:equivalentTo"}
xref: GARD:0001240 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:101078", source="ORDO:101078/attributed", source="ORDO:101078/ntbt", source="DOID:0110212"}
xref: OMIM:310490 {source="Orphanet:101078", source="ORDO:101078/e", source="MONDO:equivalentTo", source="DOID:0110212"}
xref: Orphanet:101078 {source="OMIM:310490", source="MONDO:equivalentTo", source="DOID:0110212"}
xref: SCTID:763400005 {source="MONDO:equivalentTo"}
is_a: MONDO:0018994 {source="DOID:0110212", source="MONDOLEX:0010689", source="Orphanet:101078"} ! Charcot-Marie-Tooth disease type X
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795910
property_value: exactMatch DOID:0110212
property_value: exactMatch http://identifiers.org/omim/310490
property_value: exactMatch http://identifiers.org/snomedct/763400005
property_value: exactMatch Orphanet:101078

[Term]
id: MONDO:0010690
name: congenital stationary night blindness 1A
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "complete CSNB X-linked" EXACT [DOID:0110870]
synonym: "congenital stationary night blindness 1A X-linked" EXACT [DOID:0110870]
synonym: "congenital stationary night blindness caused by mutation in NYX" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1A" EXACT [DOID:0110870, MONDORULE:4]
synonym: "congenital stationary night blindness with myopia" EXACT [DOID:0110870]
synonym: "CSNB, complete, X-linked" RELATED [OMIM:310500]
synonym: "CSNB1A" EXACT [DOID:0110870, MONDO:Lexical, OMIM:310500]
synonym: "hemeralopia-myopia" EXACT [DOID:0110870, OMIM:310500]
synonym: "myopia-night blindness" EXACT [DOID:0110870, OMIM:310500]
synonym: "NBMI" EXACT [DOID:0110870]
synonym: "night blindness, congenital stationary, type 1A" EXACT [MONDO:Lexical, OMIM:310500]
synonym: "night blindness, congenital stationary, type 1A; CSNB1A" EXACT [OMIM:310500]
synonym: "night blindness, congenital stationary, with myopia" RELATED [OMIM:310500]
synonym: "nyctalopia" RELATED [OMIM:310500]
synonym: "NYX congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110870 {source="MONDO:equivalentTo"}
xref: OMIM:310500 {source="MONDO:equivalentTo", source="DOID:0110870"}
is_a: MONDO:0044749 {source="MONDO:cjm"} ! X-linked congenital stationary night blindness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839601
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495587
property_value: exactMatch DOID:0110870
property_value: exactMatch http://identifiers.org/omim/310500

[Term]
id: MONDO:0010691
name: Norrie disease
def: "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." [Orphanet:649]
subset: gard_rare {source="GARD:0007224"}
subset: ordo_malformation_syndrome {source="Orphanet:649"}
synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224]
synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649]
synonym: "Episkopi blindness" EXACT [DOID:0060844, OMIM:310600, Orphanet:649]
synonym: "fetal iritis syndrome" RELATED [GARD:0007224]
synonym: "ND" RELATED [MONDO:Lexical, OMIM:310600]
synonym: "NDP" RELATED [GARD:0007224]
synonym: "Norrie disease" EXACT [MONDO:Lexical, OMIM:310600]
synonym: "Norrie disease; nd" RELATED [OMIM:310600]
synonym: "Norrie syndrome" RELATED [GARD:0007224]
synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, Orphanet:649]
synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224]
synonym: "pseudoglioma" RELATED [GARD:0007224]
xref: DOID:0060844 {source="MONDO:equivalentTo"}
xref: GARD:0007224 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:649/attributed", source="ORDO:649/ntbt", source="Orphanet:649", source="DOID:0060844"}
xref: ICD9:743.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069760 {source="ORDO:649/e", source="Orphanet:649"}
xref: MESH:C537849 {source="ORDO:649/e", source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="MONDO:ontobio"}
xref: NCIT:C118634 {source="MONDO:equivalentTo"}
xref: OMIM:310600 {source="ORDO:649/e", source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844"}
xref: Orphanet:649 {source="MONDO:equivalentTo", source="DOID:0060844", source="OMIM:310600"}
xref: SCTID:15228007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015218 {source="Orphanet:649"} ! syndromic developmental defect of the eye
is_a: MONDO:0019589 {source="Orphanet:649"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="Orphanet:649"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020225 {source="Orphanet:649"} ! syndromic cataract
is_a: MONDO:0020247 {source="Orphanet:649"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0020768 ! X-linked deafness
property_value: exactMatch DOID:0060844
property_value: exactMatch http://identifiers.org/meddra/10069760
property_value: exactMatch http://identifiers.org/mesh/C537849
property_value: exactMatch http://identifiers.org/omim/310600
property_value: exactMatch http://identifiers.org/snomedct/15228007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266526
property_value: exactMatch NCIT:C118634
property_value: exactMatch Orphanet:649
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7224/norrie-disease xsd:anyURI {source="GARD:0007224"}

[Term]
id: MONDO:0010692
name: nuclear ribonucleic acid
synonym: "nRNA" RELATED [MONDO:Lexical, OMIM:310650]
synonym: "nuclear ribonucleic acid" EXACT [MONDO:Lexical, OMIM:310650]
synonym: "nuclear ribonucleic acid; nRNA" RELATED [OMIM:310650]
xref: OMIM:310650 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839581
property_value: exactMatch http://identifiers.org/omim/310650

[Term]
id: MONDO:0010693
name: nystagmus 1, congenital, X-linked
def: "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0002969"}
synonym: "congenital nystagmus caused by mutation in FRMD7" EXACT [MONDO:design_pattern]
synonym: "FRMD7 congenital nystagmus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NYS1" RELATED [MONDO:Lexical, OMIM:310700]
synonym: "Nystagmus 1, congenital, X- linked" RELATED [GARD:0002969]
synonym: "nystagmus 1, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:310700]
synonym: "NYSTAGMUS 1, congenital, X-linked; NYS1" RELATED [OMIM:310700]
synonym: "Nystagmus 1, infantile, X-linked" RELATED [OMIM:310700]
synonym: "Nystagmus, congenital motor, 1" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile idiopathic" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile idiopathic, formerly" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile periodic alternating, X-linked" RELATED [OMIM:310700]
synonym: "Xlpan" RELATED [OMIM:310700]
xref: GARD:0002969 {source="MONDO:equivalentTo"}
xref: OMIM:310700 {source="MONDO:equivalentTo"}
xref: UMLS:C1839580 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310700"}
is_a: MONDO:0005712 {source="DC-OMIM:310700", source="MONDO:Redundant", source="OMIM:310700"} ! congenital nystagmus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151880
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/omim/310700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839580
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked xsd:anyURI {source="GARD:0002969"}

[Term]
id: MONDO:0010694
name: nystagmus, myoclonic
subset: gard_rare {source="GARD:0009605"}
synonym: "myoclonic nystagmus" RELATED [GARD:0009605]
synonym: "nystagmus, myoclonic" EXACT [OMIM:310800]
xref: GARD:0009605 {source="MONDO:equivalentTo"}
xref: MESH:C564088 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:310800 {source="MONDO:equivalentTo"}
xref: UMLS:C1839579 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310800"}
is_a: MONDO:0005712 {source="DC-OMIM:310800", source="MONDO:cjm"} ! congenital nystagmus
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C564088
property_value: exactMatch http://identifiers.org/omim/310800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839579
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic xsd:anyURI {source="GARD:0009605"}

[Term]
id: MONDO:0010695
name: occipital hair, white lock of
synonym: "occipital hair, white lock of" EXACT [OMIM:310900]
xref: OMIM:310900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839578
property_value: exactMatch http://identifiers.org/omim/310900

[Term]
id: MONDO:0010696
name: omphalocele, X-linked
synonym: "omphalocele, X-linked" EXACT [OMIM:310980]
xref: OMIM:310980 {source="MONDO:equivalentTo"}
xref: UMLS:C3275625 {source="MONDO:equivalentTo", source="OMIM:310980"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019015 {source="DC-OMIM:310980"} ! omphalocele (disease)
property_value: exactMatch http://identifiers.org/omim/310980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275625

[Term]
id: MONDO:0010697
name: OPEM
synonym: "myopia-ophthalmoplegia syndrome" RELATED [OMIM:311000]
synonym: "OPEM" EXACT [MONDO:Lexical, OMIM:311000]
synonym: "ophthalmoplegia, external, and myopia" RELATED [MONDO:Lexical, OMIM:311000]
synonym: "ophthalmoplegia, external, and myopia; OPEM" RELATED [OMIM:311000]
xref: MESH:C564087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839577 {source="NCBI:mim2gene_medline", source="OMIM:311000", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564087/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564087
property_value: exactMatch http://identifiers.org/omim/311000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839577

[Term]
id: MONDO:0010698
name: optic atrophy 2
def: "Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." [Orphanet:98890]
subset: ordo_disease {source="Orphanet:98890"}
synonym: "non-Leber type optic atrophy with early-onset" EXACT [Orphanet:98890]
synonym: "OPA2" EXACT [MONDO:Lexical, OMIM:311050, Orphanet:98890]
synonym: "optic atrophy 2" RELATED [MONDO:Lexical, OMIM:311050]
synonym: "optic atrophy 2; OPA2" RELATED [OMIM:311050]
synonym: "optic atrophy type 2" EXACT [Orphanet:98890]
synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050]
synonym: "optic atrophy, X-linked" RELATED [OMIM:311050]
xref: GARD:0010199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="ORDO:98890/attributed", source="ORDO:98890/ntbt", source="Orphanet:98890"}
xref: MESH:C537125 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311050 {source="MONDO:equivalentTo", source="ORDO:98890/e", source="Orphanet:98890"}
xref: Orphanet:98890 {source="MONDO:equivalentTo", source="OMIM:311050"}
xref: SCTID:721200000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1839576 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98890", source="OMIM:311050"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0018609 {source="Orphanet:98890"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0020119 {source="Orphanet:98890"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043878 ! hereditary optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C537125
property_value: exactMatch http://identifiers.org/omim/311050
property_value: exactMatch http://identifiers.org/snomedct/721200000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839576
property_value: exactMatch Orphanet:98890

[Term]
id: MONDO:0010699
name: Charcot-Marie-Tooth disease X-linked recessive 5
def: "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." [Orphanet:99014]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:99014"}
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [DOID:0110210, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5" EXACT [MONDO:Lexical, OMIM:311070]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5" EXACT [OMIM:311070]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, type 5" EXACT [MONDORULE:1, OMIM:311070]
synonym: "Charcot-Marie-Tooth neuropathy X type 5" EXACT [GARD:0000114]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT [DOID:0110210]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" EXACT [OMIM:311070]
synonym: "CMT5X" EXACT [DOID:0110210, Orphanet:99014]
synonym: "CMTX5" EXACT [DOID:0110210, Orphanet:99014]
synonym: "familial opticoacoustic nerve degeneration and polyneuropathy" EXACT [GARD:0000114]
synonym: "optic atrophy, polyneuropathy, and deafness" EXACT [DOID:0110210, GARD:0000114, OMIM:311070]
synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [GARD:0000114]
synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM:311070]
synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210]
xref: DOID:0110210 {source="MONDO:equivalentTo"}
xref: GARD:0000114 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110210", source="ORDO:99014/attributed", source="ORDO:99014/ntbt", source="Orphanet:99014"}
xref: OMIM:311070 {source="GARD:0000114", source="MONDO:equivalentTo", source="DOID:0110210", source="ORDO:99014/e", source="Orphanet:99014"}
xref: Orphanet:99014 {source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070", source="DOID:0110210"}
xref: SCTID:763460007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839566 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311070", source="Orphanet:99014"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018609 {source="Orphanet:99014"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0018994 {source="DOID:0110210", source="MONDOLEX:0010699", source="Orphanet:99014"} ! Charcot-Marie-Tooth disease type X
is_a: MONDO:0019236 {source="Orphanet:99014"} ! inborn disorder of purine metabolism
property_value: exactMatch DOID:0110210
property_value: exactMatch http://identifiers.org/omim/311070
property_value: exactMatch http://identifiers.org/snomedct/763460007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839566
property_value: exactMatch Orphanet:99014

[Term]
id: MONDO:0010700
name: optic atrophy--spastic paraplegia syndrome
synonym: "optic atrophy--spastic paraplegia syndrome" EXACT [OMIM:311100]
xref: MESH:C564084 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311100 {source="MONDO:equivalentTo"}
xref: UMLS:C1839565 {source="OMIM:311100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564084/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564084
property_value: exactMatch http://identifiers.org/omim/311100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839565

[Term]
id: MONDO:0010701
name: obsolete opticoacoustic nerve atrophy with dementia
is_obsolete: true
replaced_by: MONDO:0010578

[Term]
id: MONDO:0010702
name: orofaciodigital syndrome I
def: "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." [Orphanet:2750]
subset: ordo_malformation_syndrome {source="Orphanet:2750"}
synonym: "OFD syndrome 1" EXACT [GARD:0004121]
synonym: "OFD1" EXACT [MONDO:Lexical, OMIM:311200, Orphanet:2750]
synonym: "OFDI" EXACT [Orphanet:2750]
synonym: "OFDS 1" EXACT [OMIM:311200]
synonym: "OFDSI" EXACT [Orphanet:2750]
synonym: "oral facial digital syndrome 1" EXACT [GARD:0004121]
synonym: "oral facial digital syndrome type 1" EXACT [GARD:0004121]
synonym: "oral-facial-digital syndrome 1" EXACT [GARD:0004121]
synonym: "oral-facial-digital syndrome type 1" EXACT [Orphanet:2750]
synonym: "oral-facial-digital syndrome, type 1" EXACT [OMIM:311200]
synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316]
synonym: "orofaciodigital syndrome I" EXACT [MONDO:Lexical, OMIM:311200]
synonym: "orofaciodigital syndrome I; OFD1" EXACT [OMIM:311200]
synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200]
synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1]
synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200]
synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750]
synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121]
synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750]
xref: DOID:0060316 {source="MONDO:equivalentTo"}
xref: GARD:0004121 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2750", source="DOID:0060316", source="ORDO:2750/attributed", source="ORDO:2750/ntbt"}
xref: NCIT:C75481 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.52"}
xref: OMIM:311200 {source="ORDO:2750/e", source="Orphanet:2750", source="MONDO:equivalentTo", source="DOID:0060316"}
xref: Orphanet:2750 {source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"}
xref: SCTID:763833006 {source="MONDO:equivalentTo"}
xref: UMLS:C1510460 {source="ORDO:2750/e", source="Orphanet:2750", source="NCIT:C75481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"}
xref: UMLS:C2698658 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="DC-OMIM:311200", source="DOID:0060316", source="Orphanet:2750"} ! orofaciodigital syndrome
is_a: MONDO:0019287 {source="Orphanet:2750"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 {source="Orphanet:2750"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2750"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0019741 ! familial cystic renal disease
is_a: MONDO:0020119 {source="Orphanet:2750"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020642 ! polycystic kidney disease
is_a: MONDO:0020768 ! X-linked deafness
is_a: MONDO:0021029 {source="OWLReasoner:2017", source="Orphanet:2750"} ! genetic sebaceous gland anomaly
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
property_value: closeMatch http://identifiers.org/snomedct/239029009
property_value: closeMatch http://identifiers.org/snomedct/403773005
property_value: exactMatch DOID:0060316
property_value: exactMatch http://identifiers.org/omim/311200
property_value: exactMatch http://identifiers.org/snomedct/763833006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2698658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931426
property_value: exactMatch NCIT:C75481
property_value: exactMatch Orphanet:2750

[Term]
id: MONDO:0010703
name: ornithine carbamoyltransferase deficiency
def: "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." [Orphanet:664]
subset: clingen
subset: ordo_disease {source="Orphanet:664"}
synonym: "deficiency of citrulline phosphorylase" EXACT [DOID:9271]
synonym: "OCT deficiency" EXACT [Orphanet:664]
synonym: "ornithine carbamoyltransferase deficiency" EXACT [OMIM:311250, Orphanet:664]
synonym: "ornithine carbamoyltransferase deficiency disease" EXACT [NCIT:C84957]
synonym: "ornithine transcarbamylase deficiency" EXACT [CSP2005:1849-9662, DOID:9271]
synonym: "ornithine transcarbamylase deficiency, hyperammonemia due to" RELATED [OMIM:311250]
synonym: "OTC deficiency" EXACT [OMIM:311250, Orphanet:664]
synonym: "OTCD" EXACT [GARD:0008391]
synonym: "valproate sensitivity" RELATED [OMIM:311250]
xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"}
xref: EFO:0007409 {source="MONDO:equivalentTo"}
xref: GARD:0008391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.4 {source="Orphanet:664", source="ORDO:664/inclusion", source="DOID:9271", source="ORDO:664/ntbt"}
xref: MedDRA:10052450 {source="Orphanet:664", source="ORDO:664/e"}
xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="EFO:0007409", source="MONDO:ontobio", source="ORDO:664/e"}
xref: NCIT:C84957 {source="MONDO:equivalentTo", source="DOID:9271", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:311250 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="ORDO:664/e"}
xref: Orphanet:664 {source="OMIM:311250", source="MONDO:equivalentTo"}
xref: SCTID:80908008 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:9271"}
xref: UMLS:C0268542 {source="OMIM:311250", source="Orphanet:664", source="NCIT:C84957", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:9271", source="ORDO:664/e"}
is_a: MONDO:0015920 {source="Orphanet:664"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019217 {source="Orphanet:664"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://identifiers.org/snomedct/124249000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839530
property_value: exactMatch DOID:9271
property_value: exactMatch http://identifiers.org/meddra/10052450
property_value: exactMatch http://identifiers.org/mesh/D020163
property_value: exactMatch http://identifiers.org/omim/311250
property_value: exactMatch http://identifiers.org/snomedct/80908008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268542
property_value: exactMatch NCIT:C84957
property_value: exactMatch Orphanet:664

[Term]
id: MONDO:0010704
name: otopalatodigital syndrome type 1
def: "Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder (see this term), and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." [Orphanet:90650]
subset: ordo_clinical_subtype {source="Orphanet:90650"}
synonym: "frontootopalatodigital osteodysplasia" RELATED [OMIM:311300]
synonym: "OPD 1 syndrome" EXACT [OMIM:311300]
synonym: "OPD I syndrome" EXACT [Orphanet:90650]
synonym: "OPD syndrome" RELATED [GARD:0005121]
synonym: "OPD syndrome 1" EXACT [OMIM:311300, Orphanet:90650]
synonym: "OPD1" EXACT [MONDO:Lexical, OMIM:311300]
synonym: "oto-palato-digital syndrome type 1" EXACT [GARD:0005121]
synonym: "otopalatodigital spectrum disorder" RELATED [OMIM:311300]
synonym: "otopalatodigital syndrome, type 1" EXACT [OMIM:311300]
synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical, OMIM:311300]
synonym: "otopalatodigital syndrome, type I; OPD1" EXACT [OMIM:311300]
synonym: "Taybi syndrome" EXACT [Orphanet:90650]
xref: GARD:0005121 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:90650", source="ORDO:90650/attributed", source="ORDO:90650/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C118845 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:311300 {source="ORDO:90650/e", source="MONDO:equivalentTo", source="Orphanet:90650"}
xref: Orphanet:90650 {source="MONDO:equivalentTo", source="OMIM:311300"}
xref: SCTID:54036001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0019027 {source="Orphanet:90650"} ! otopalatodigital syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265251
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748919
property_value: exactMatch http://identifiers.org/omim/311300
property_value: exactMatch http://identifiers.org/snomedct/54036001
property_value: exactMatch NCIT:C118845
property_value: exactMatch Orphanet:90650

[Term]
id: MONDO:0010705
name: ouabain resistance
synonym: "ouabain resistance" EXACT [MONDO:Lexical, OMIM:311350]
synonym: "ouabain resistance; OUBR" RELATED [OMIM:311350]
synonym: "OUBR" RELATED [MONDO:Lexical, OMIM:311350]
xref: OMIM:311350 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839502
property_value: exactMatch http://identifiers.org/omim/311350

[Term]
id: MONDO:0010706
name: premature ovarian failure 1
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial premature ovarian failure" RELATED [GARD:0004480]
synonym: "FMR1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FMR1-related premature ovarian failure" RELATED [GARD:0004480]
synonym: "FMR1-related primary ovarian insufficiency" RELATED [GARD:0004480]
synonym: "fragile X-associated primary ovarian insufficiency" RELATED [GARD:0004480]
synonym: "hypergonadotropic ovarian failure, X-linked" RELATED [OMIM:311360]
synonym: "idiopathic familial premature ovarian failure" RELATED [GARD:0004480]
synonym: "ovarian failure, premature" BROAD [OMIM:311360]
synonym: "Pof1" RELATED [MONDO:Lexical, OMIM:311360]
synonym: "premature ovarian failure 1" EXACT [MONDO:Lexical, OMIM:311360]
synonym: "premature ovarian failure 1; Pof1" RELATED [OMIM:311360]
synonym: "premature ovarian failure type 1" EXACT [MONDORULE:1, OMIM:311360]
synonym: "premature ovarian failure, X-linked" RELATED [OMIM:311360]
synonym: "primary ovarian failure caused by mutation in FMR1" EXACT [MONDO:design_pattern]
xref: GARD:0004480 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:256.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:311360 {source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749126
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3494522
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/omim/311360

[Term]
id: MONDO:0010707
name: Paine syndrome
subset: gard_rare {source="GARD:0009780"}
synonym: "microcephaly with spastic diplegia" RELATED [OMIM:311400]
synonym: "Paine syndrome" EXACT [OMIM:311400]
synonym: "Seemanova syndrome 1" RELATED [OMIM:311400]
xref: GARD:0009780 {source="MONDO:equivalentTo"}
xref: MESH:C538101 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311400 {source="MONDO:equivalentTo"}
xref: UMLS:C1412041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311400"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538101
property_value: exactMatch http://identifiers.org/omim/311400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1412041
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome xsd:anyURI {source="GARD:0009780"}

[Term]
id: MONDO:0010708
name: Pallister-W syndrome
def: "W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." [Orphanet:2804]
subset: ordo_malformation_syndrome {source="Orphanet:2804"}
synonym: "median cleft upper lip, mental retardation and pugilistic facies" RELATED [GARD:0000358]
synonym: "Pallister W syndrome" RELATED [OMIM:311450]
synonym: "Pallister-W syndrome" EXACT [Orphanet:2804]
synonym: "W syndrome" EXACT [OMIM:311450]
xref: GARD:0000358 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2804/attributed", source="ORDO:2804/ntbt", source="Orphanet:2804"}
xref: MESH:C538106 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311450 {source="MONDO:equivalentTo", source="ORDO:2804/e", source="Orphanet:2804"}
xref: Orphanet:2804 {source="OMIM:311450", source="MONDO:equivalentTo"}
xref: SCTID:719020006 {source="MONDO:kboom-pr-1.00/0.79/8.55", source="MONDO:equivalentTo"}
xref: UMLS:C0796110 {source="OMIM:311450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2804/e", source="Orphanet:2804"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2804"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2804"} ! orofacial clefting syndrome
is_a: MONDO:0015650 {source="Orphanet:2804"} ! epilepsy syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020119 {source="Orphanet:2804"} ! X-linked syndromic intellectual disability
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C538106
property_value: exactMatch http://identifiers.org/omim/311450
property_value: exactMatch http://identifiers.org/snomedct/719020006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796110
property_value: exactMatch Orphanet:2804

[Term]
id: MONDO:0010709
name: early-onset parkinsonism-intellectual disability syndrome
def: "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." [Orphanet:2379]
subset: ordo_disease {source="Orphanet:2379"}
synonym: "basal ganglia disorder with mental retardation" RELATED [GARD:0003203]
synonym: "basal ganglion disorder with mental retardation" RELATED [OMIM:311510]
synonym: "BGMR" RELATED [GARD:0003203]
synonym: "Laxova Brown hogan syndrome" RELATED [GARD:0003203]
synonym: "Laxova-Opitz syndrome" EXACT [Orphanet:2379]
synonym: "Parkinsonism, early onset with mental retardation" RELATED [GARD:0003203]
synonym: "Parkinsonism, early-onset, with mental retardation" RELATED [OMIM:311510]
synonym: "WAISMAN syndrome" RELATED [MONDO:Lexical, OMIM:311510]
synonym: "Waisman syndrome" EXACT [Orphanet:2379]
synonym: "WAISMAN syndrome; WSMN" RELATED [OMIM:311510]
synonym: "WSMN" RELATED [MONDO:Lexical, OMIM:311510]
synonym: "Wsn" RELATED [OMIM:311510]
synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED [GARD:0003203]
xref: GARD:0003203 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G20 {source="Orphanet:2379", source="ORDO:2379/attributed", source="ORDO:2379/ntbt"}
xref: MESH:C537179 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:311510 {source="Orphanet:2379", source="ORDO:2379/e", source="MONDO:equivalentTo"}
xref: Orphanet:2379 {source="MONDO:equivalentTo", source="OMIM:311510"}
xref: SCTID:716107009 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="MONDO:equivalentTo"}
xref: UMLS:C0796195 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:2379", source="NCBI:mim2gene_medline", source="ORDO:2379/e", source="MONDO:equivalentTo", source="OMIM:311510"}
is_a: MONDO:0017661 {source="Orphanet:2379"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0020119 {source="Orphanet:2379"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537179
property_value: exactMatch http://identifiers.org/omim/311510
property_value: exactMatch http://identifiers.org/snomedct/716107009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796195
property_value: exactMatch Orphanet:2379

[Term]
id: MONDO:0010710
name: Pierre Robin syndrome-faciodigital anomaly syndrome
def: "This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." [Orphanet:2888]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2888"}
synonym: "Chitayat Meunier Hodgkinson syndrome" RELATED [GARD:0001274]
synonym: "Chitayat-Meunier-Hodgkinson syndrome" EXACT [Orphanet:2888]
synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [OMIM:311895]
synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2888]
synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274]
synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926]
xref: GARD:0001274 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2888/attributed", source="ORDO:2888/ntbt", source="Orphanet:2888"}
xref: MESH:C535926 {source="MONDO:equivalentTo"}
xref: OMIM:311895 {source="MONDO:equivalentTo", source="ORDO:2888/e", source="Orphanet:2888", source="GARD:0001274"}
xref: Orphanet:2888 {source="MONDO:equivalentTo", source="OMIM:311895", source="GARD:0001274"}
xref: SCTID:723461007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931064 {source="MONDO:equivalentTo", source="ORDO:2888/e", source="Orphanet:2888", source="GARD:0001274"}
is_a: MONDO:0015335 {source="Orphanet:2888"} ! orofacial clefting syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839464
property_value: exactMatch http://identifiers.org/mesh/C535926
property_value: exactMatch http://identifiers.org/omim/311895
property_value: exactMatch http://identifiers.org/snomedct/723461007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931064
property_value: exactMatch Orphanet:2888
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome xsd:anyURI {source="GARD:0001274"}

[Term]
id: MONDO:0010711
name: tarp syndrome
def: "TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." [Orphanet:2886]
subset: gard_rare {source="GARD:0010089"}
subset: ordo_malformation_syndrome {source="Orphanet:2886"}
synonym: "Pierre Robin sequence - congenital heart defect - talipes" RELATED [GARD:0010089]
synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886]
synonym: "Pierre Robin syndrome - congenital heart defect - talipes" RELATED [GARD:0010089]
synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" RELATED [OMIM:311900]
synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886]
synonym: "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava" RELATED [GARD:0010089]
synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" RELATED [OMIM:311900]
synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [Orphanet:2886]
synonym: "tarp syndrome" EXACT [MONDO:Lexical, OMIM:311900]
synonym: "tarp syndrome; TARPS" RELATED [OMIM:311900]
synonym: "TARPS" RELATED [MONDO:Lexical, OMIM:311900]
xref: GARD:0010089 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2886/attributed", source="ORDO:2886/ntbt", source="Orphanet:2886"}
xref: MESH:C536942 {source="ORDO:2886/e", source="MONDO:equivalentTo", source="Orphanet:2886", source="MONDO:ontobio"}
xref: OMIM:311900 {source="ORDO:2886/e", source="MONDO:equivalentTo", source="Orphanet:2886"}
xref: Orphanet:2886 {source="MONDO:equivalentTo", source="OMIM:311900"}
xref: SCTID:725911008 {source="MONDO:equivalentTo"}
xref: UMLS:C1839463 {source="MEDGEN:kboom-pr98-c99", source="ORDO:2886/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2886", source="OMIM:311900"}
is_a: MONDO:0015319 {source="Orphanet:2886"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0015506 {source="Orphanet:2886"} ! rare syndrome with cardiac malformations
is_a: MONDO:0018187 {source="Orphanet:2886"} ! genetic syndromic Pierre Robin syndrome
property_value: exactMatch http://identifiers.org/mesh/C536942
property_value: exactMatch http://identifiers.org/omim/311900
property_value: exactMatch http://identifiers.org/snomedct/725911008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839463
property_value: exactMatch Orphanet:2886
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome xsd:anyURI {source="GARD:0010089"}

[Term]
id: MONDO:0010712
name: panhypopituitarism, X-linked
subset: gard_rare {source="GARD:0006737"}
synonym: "panhypopituitarism X-linked" RELATED [GARD:0006737]
synonym: "panhypopituitarism, X-linked" EXACT [MONDO:Lexical, OMIM:312000]
synonym: "panhypopituitarism, X-linked; PHPX" RELATED [OMIM:312000]
synonym: "PHPX" RELATED [MONDO:Lexical, OMIM:312000]
synonym: "pituitary dwarfism IV" RELATED [OMIM:312000]
synonym: "pituitary dwarfism IV (formerly)" RELATED [GARD:0006737]
synonym: "pituitary dwarfism IV, formerly" RELATED [OMIM:312000]
xref: GARD:0006737 {source="MONDO:equivalentTo"}
xref: MESH:C538613 {source="MONDO:equivalentTo"}
xref: OMIM:312000 {source="MONDO:equivalentTo"}
xref: SCTID:237683004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019591 {source="ORDO:90695/btnt", source="linkedlifedata"} ! panhypopituitarism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342376
property_value: exactMatch http://identifiers.org/mesh/C538613
property_value: exactMatch http://identifiers.org/omim/312000
property_value: exactMatch http://identifiers.org/snomedct/237683004
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked xsd:anyURI {source="GARD:0006737"}

[Term]
id: MONDO:0010713
name: properdin deficiency
def: "Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." [Orphanet:2966]
subset: ordo_disease {source="Orphanet:2966"}
synonym: "CFPD" RELATED [MONDO:Lexical, OMIM:312060]
synonym: "complement Factor properdin deficiency" RELATED [OMIM:312060]
synonym: "PFD" RELATED [GARD:0009913]
synonym: "properdin deficiency, type 1" RELATED [OMIM:312060]
synonym: "properdin deficiency, type 2" RELATED [OMIM:312060]
synonym: "properdin deficiency, type 3" RELATED [OMIM:312060]
synonym: "properdin deficiency, X-linked" RELATED [MONDO:Lexical, OMIM:312060]
synonym: "properdin deficiency, X-linked; CFPD" RELATED [OMIM:312060]
synonym: "properdin P Factor deficiency" RELATED [OMIM:312060]
xref: GARD:0004513 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0009913 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D84.1 {source="ORDO:2966/attributed", source="ORDO:2966/ntbt", source="Orphanet:2966"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="ORDO:2966/e"}
xref: OMIM:312060 {source="MONDO:equivalentTo", source="Orphanet:2966", source="ORDO:2966/e"}
xref: Orphanet:2966 {source="MONDO:equivalentTo", source="OMIM:312060"}
xref: SCTID:81166004 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0018727 {source="Orphanet:2966"} ! immunodeficiency due to a complement regulatory deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839454
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839455
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839456
property_value: exactMatch http://identifiers.org/mesh/C537241
property_value: exactMatch http://identifiers.org/omim/312060
property_value: exactMatch http://identifiers.org/snomedct/81166004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398762
property_value: exactMatch Orphanet:2966

[Term]
id: MONDO:0010714
name: Pelizaeus-Merzbacher disease
def: "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." [Orphanet:702]
subset: gard_rare {source="GARD:0004265"}
subset: ordo_disease {source="Orphanet:702"}
synonym: "diffuse familial brain sclerosis" EXACT [DOID:3210, Orphanet:702]
synonym: "HLD1" EXACT [DOID:3210]
synonym: "hypomyelinating leukodystrophy 1" EXACT [DOID:3210]
synonym: "leukodystrophy, hypomyelinating, 1" RELATED [OMIM:312080]
synonym: "leukodystrophy, sudanophilic" EXACT [DOID:3210, MTHICD9_2006:330.0]
synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [CSP2005:1849-5479, DOID:3210]
synonym: "Pelizaeus Merzbacher disease" RELATED [GARD:0004265]
synonym: "Pelizaeus-Merzbacher brain sclerosis" EXACT [DOID:3210, Orphanet:702]
synonym: "Pelizaeus-Merzbacher disease" EXACT [MONDO:Lexical, OMIM:312080]
synonym: "Pelizaeus-Merzbacher disease; PMD" RELATED [OMIM:312080]
synonym: "PMD" EXACT [DOID:3210, MONDO:Lexical, OMIM:312080, Orphanet:702]
synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphanet:702]
synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210]
xref: DOID:3210 {source="MONDO:equivalentTo"}
xref: GARD:0004265 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="DOID:3210", source="Orphanet:702", source="ORDO:702/ntbt", source="ORDO:702/index"}
xref: MedDRA:10067610 {source="ORDO:702/e", source="Orphanet:702"}
xref: MESH:D020371 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75487 {source="DOID:3210", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:312080 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="MONDO:equivalentTo"}
xref: Orphanet:702 {source="DOID:3210", source="MONDO:equivalentTo", source="OMIM:312080"}
xref: SCTID:64855000 {source="DOID:3210", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0205711 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75487", source="OMIM:312080"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0018609 {source="Orphanet:702"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy
is_a: MONDO:0020119 {source="Orphanet:702"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020261 {source="Orphanet:702"} ! neurological disease with abnormal eye movements
property_value: exactMatch DOID:3210
property_value: exactMatch http://identifiers.org/meddra/10067610
property_value: exactMatch http://identifiers.org/mesh/D020371
property_value: exactMatch http://identifiers.org/omim/312080
property_value: exactMatch http://identifiers.org/snomedct/64855000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205711
property_value: exactMatch NCIT:C75487
property_value: exactMatch Orphanet:702
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease xsd:anyURI {source="GARD:0004265"}

[Term]
id: MONDO:0010715
name: pseudohermaphroditism, incomplete male, type 1
synonym: "moved to 312300" RELATED [OMIM:312100]
synonym: "pseudohermaphroditism, incomplete MALE, type I" RELATED [OMIM:312100]
xref: MESH:C538435 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312100 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538435/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839441
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931847
property_value: exactMatch http://identifiers.org/mesh/C538435
property_value: exactMatch http://identifiers.org/omim/312100

[Term]
id: MONDO:0010716
name: X-linked lethal multiple pterygium syndrome
def: "X-linked form of lethal multiple pterygium syndrome." [MONDO:patterns/x_linked]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:79447"}
synonym: "lethal multiple pterygium syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "multiple pterygium syndrome X-linked" RELATED [GARD:0004573]
synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150]
synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573]
synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150]
xref: GARD:0004573 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="Orphanet:79447", source="ORDO:79447/attributed", source="ORDO:79447/ntbt"}
xref: MESH:C564072 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="GARD:0004573", source="ORDO:79447/e"}
xref: Orphanet:79447 {source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"}
xref: SCTID:763462004 {source="MONDO:equivalentTo"}
xref: UMLS:C1839440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0009668 ! lethal multiple pterygium syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564072
property_value: exactMatch http://identifiers.org/omim/312150
property_value: exactMatch http://identifiers.org/snomedct/763462004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839440
property_value: exactMatch Orphanet:79447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked xsd:anyURI {source="GARD:0004573"}

[Term]
id: MONDO:0010717
name: pyruvate dehydrogenase E1-alpha deficiency
def: "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." [Orphanet:79243]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:79243"}
synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620, OMIM:312170]
synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [OMIM:312170]
synonym: "ataxia, intermittent, with pyruvate dehydrogenase deficiency" RELATED [OMIM:312170]
synonym: "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency" RELATED [GARD:0004620]
synonym: "lactic acidemia, thiamine-responsive" RELATED [OMIM:312170]
synonym: "PDH deficiency" RELATED [OMIM:312170]
synonym: "PDHAD" EXACT [MONDO:Lexical, OMIM:312170, Orphanet:79243]
synonym: "pyruvate decarboxylase deficiency" EXACT [Orphanet:79243]
synonym: "pyruvate dehydrogenase Complex deficiency" RELATED [OMIM:312170]
synonym: "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" EXACT [Orphanet:79243]
synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT [MONDO:Lexical, OMIM:312170]
synonym: "pyruvate dehydrogenase E1-ALPHA deficiency; PDHAD" RELATED [OMIM:312170]
xref: GARD:0004620 {source="MONDO:equivalentTo"}
xref: ICD10:E74.4 {source="ORDO:79243/attributed", source="ORDO:79243/ntbt", source="Orphanet:79243"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:312170 {source="GARD:0004620", source="MONDO:equivalentTo", source="ORDO:79243/e", source="Orphanet:79243"}
xref: Orphanet:79243 {source="MONDO:equivalentTo", source="OMIM:312170"}
xref: SCTID:124593001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.28/0.06"}
is_a: MONDO:0019169 {source="DC-OMIM:312170", source="OMIM:312170", source="Orphanet:79243"} ! pyruvate dehydrogenase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839413
property_value: closeMatch Orphanet:100977
property_value: exactMatch http://identifiers.org/omim/312170
property_value: exactMatch http://identifiers.org/snomedct/124593001
property_value: exactMatch Orphanet:79243

[Term]
id: MONDO:0010718
name: absent radius-anogenital anomalies syndrome
def: "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." [Orphanet:3016]
subset: ordo_malformation_syndrome {source="Orphanet:3016"}
synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190]
synonym: "radial aplasia, X-linked" RELATED [OMIM:312190]
synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633]
xref: GARD:0004633 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535281 {source="ORDO:3016/e", source="Orphanet:3016", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312190 {source="ORDO:3016/e", source="Orphanet:3016", source="MONDO:equivalentTo"}
xref: Orphanet:3016 {source="MONDO:equivalentTo", source="OMIM:312190"}
xref: UMLS:C1839410 {source="ORDO:3016/e", source="NCBI:mim2gene_medline", source="Orphanet:3016", source="MONDO:equivalentTo", source="OMIM:312190"}
is_a: MONDO:0017432 {source="Orphanet:3016"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:3016", source="Orphanet:3016/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535281
property_value: exactMatch http://identifiers.org/omim/312190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839410
property_value: exactMatch Orphanet:3016

[Term]
id: MONDO:0010719
name: radiation sensitivity of natural killer activity
synonym: "radiation sensitivity of natural killer activity" EXACT [OMIM:312210]
synonym: "X-Ray Nk sensitivity" RELATED [OMIM:312210]
xref: MESH:C564066 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312210 {source="MONDO:equivalentTo"}
xref: UMLS:C1839408 {source="NCBI:mim2gene_medline", source="OMIM:312210", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564066/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564066
property_value: exactMatch http://identifiers.org/omim/312210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839408

[Term]
id: MONDO:0010720
name: partial androgen insensitivity syndrome
def: "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." [Orphanet:90797]
subset: gard_rare {source="GARD:0005692"}
subset: ordo_disease {source="Orphanet:90797"}
synonym: "androgen insensitivity syndrome, partial" RELATED [GARD:0005692, GTR:AN0098649]
synonym: "androgen insensitivity, partial" RELATED [MONDO:Lexical, OMIM:312300]
synonym: "androgen insensitivity, partial, with or without breast cancer" RELATED [OMIM:312300]
synonym: "androgen insensitivity, partial; pais" RELATED [OMIM:312300]
synonym: "androgen resistance syndrome, partial" RELATED [GARD:0005692, GTR:AN0098650]
synonym: "familial incomplete Male pseudohermaphroditism, type 1" RELATED [OMIM:312300]
synonym: "incomplete male pseudohermaphroditism" RELATED [GTR:AN0098651]
synonym: "pais" EXACT [GTR:AN0098652, MONDO:Lexical, OMIM:312300, Orphanet:90797]
synonym: "partial androgen resistance syndrome" EXACT [Orphanet:90797]
synonym: "Reifenstein syndrome" RELATED [OMIM:312300]
synonym: "Reifenstein syndrome, partial" RELATED [GARD:0005692, GTR:AN0098654]
synonym: "type I familial incomplete male pseudohermaphroditism" RELATED [GTR:AN0098655]
xref: GARD:0005692 {source="MONDO:equivalentTo"}
xref: GTR:AN0098649 {source="UMLS:CN035075"}
xref: GTR:AN0098650 {source="UMLS:CN035075"}
xref: GTR:AN0098651 {source="UMLS:CN035075"}
xref: GTR:AN0098652 {source="UMLS:CN035075"}
xref: GTR:AN0098654 {source="UMLS:CN035075"}
xref: GTR:AN0098655 {source="UMLS:CN035075"}
xref: ICD10:E34.5 {source="ORDO:90797/attributed", source="ORDO:90797/ntbt", source="Orphanet:90797"}
xref: ICD10:E34.52 {source="MONDO:equivalentTo"}
xref: NCIT:C120192 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:307300 {source="MONDO:equivalentObsolete"}
xref: OMIM:312300 {source="MONDO:equivalentTo", source="ORDO:90797/e", source="Orphanet:90797"}
xref: Orphanet:90797 {source="MONDO:equivalentTo", source="OMIM:312300"}
xref: SCTID:122811000119101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:CN035075 {source="MONDO:equivalentTo"}
is_a: MONDO:0019154 {source="NCIT:C120192", source="Orphanet:90797", source="linkedlifedata"} ! androgen insensitivity syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268301
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0860159
property_value: exactMatch http://identifiers.org/omim/307300
property_value: exactMatch http://identifiers.org/omim/312300
property_value: exactMatch http://identifiers.org/snomedct/122811000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035075
property_value: exactMatch NCIT:C120192
property_value: exactMatch Orphanet:90797
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0005692"}

[Term]
id: MONDO:0010721
name: reticuloendotheliosis, X-linked
synonym: "reticuloendotheliosis" RELATED [GARD:0007559]
synonym: "reticuloendotheliosis, X-linked" EXACT [OMIM:312500]
xref: GARD:0007559 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538362 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312500 {source="MONDO:equivalentTo"}
xref: UMLS:C0035288 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312500"}
is_a: MONDO:0003847 {source="MESH:C538362/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538362
property_value: exactMatch http://identifiers.org/omim/312500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035288

[Term]
id: MONDO:0010722
name: X-linked retinal dysplasia
subset: gard_rare {source="GARD:0004680"}
subset: ordo_disease {source="Orphanet:1852"}
synonym: "PRD" RELATED [MONDO:Lexical, OMIM:312550]
synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680]
synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550]
synonym: "retinal dysplasia, primary; PRD" RELATED [OMIM:312550]
xref: GARD:0004680 {source="MONDO:equivalentTo"}
xref: ICD10:Q14.1 {source="ORDO:1852/attributed", source="ORDO:1852/ntbt", source="Orphanet:1852"}
xref: OMIM:312550 {source="ORDO:1852/e", source="MONDO:equivalentTo", source="Orphanet:1852"}
xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"}
xref: SCTID:715240000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275241 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:1852"} ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1418874
property_value: exactMatch http://identifiers.org/omim/312550
property_value: exactMatch http://identifiers.org/snomedct/715240000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275241
property_value: exactMatch Orphanet:1852
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked xsd:anyURI {source="GARD:0004680"}

[Term]
id: MONDO:0010723
name: retinitis pigmentosa 2
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 2" EXACT [MONDO:Lexical, OMIM:312600]
synonym: "retinitis pigmentosa 2; RP2" RELATED [OMIM:312600]
synonym: "retinitis pigmentosa caused by mutation in RP2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 2" EXACT [DOID:0110415, MONDORULE:1, OMIM:312600]
synonym: "RP2" EXACT [DOID:0110415, MONDO:Lexical, OMIM:312600]
synonym: "RP2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110415 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110415", source="MONDO:relatedTo"}
xref: MESH:C567523 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312600 {source="DOID:0110415", source="MONDO:equivalentTo"}
xref: UMLS:C2681923 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312600"}
is_a: MONDO:0019200 {source="DC-OMIM:312600", source="DOID:0110415", source="MESH:C567523", source="MONDO:Redundant", source="OMIM:312600"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110415
property_value: exactMatch http://identifiers.org/mesh/C567523
property_value: exactMatch http://identifiers.org/omim/312600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2681923

[Term]
id: MONDO:0010724
name: obsolete RP6
is_obsolete: true
replaced_by: MONDO:0000910

[Term]
id: MONDO:0010725
name: X-linked retinoschisis
def: "X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." [Orphanet:792]
subset: ordo_malformation_syndrome {source="Orphanet:792"}
synonym: "juvenile retinoschisis" RELATED [GARD:0004690]
synonym: "juvenile X-linked retinoschisis" EXACT [NCIT:C75483]
synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical, OMIM:312700]
synonym: "retinoschisis 1, X-linked, juvenile; RS1" RELATED [OMIM:312700]
synonym: "retinoschisis juvenile X chromosome-linked" RELATED [GARD:0004690]
synonym: "retinoschisis X-linked" RELATED [GARD:0004690]
synonym: "retinoschisis, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "RS" RELATED [OMIM:312700]
synonym: "RS1" RELATED [MONDO:Lexical, OMIM:312700]
synonym: "X-linked juvenile retinoschisis" EXACT [DOID:0060763, Orphanet:792]
synonym: "X-linked juvenile retinoschisis 1" RELATED [DOID:0060763]
synonym: "X-linked juvenile retinoschisis type 1" EXACT [DOID:0060763, MONDORULE:1]
synonym: "X-linked retinoschisis" EXACT [DOID:0060763]
synonym: "XJR" RELATED [GARD:0004690]
synonym: "XLRS" EXACT [DOID:0060763, Orphanet:792]
synonym: "XLRS1" RELATED [OMIM:312700]
xref: DOID:0060763 {source="MONDO:equivalentTo"}
xref: GARD:0004690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q14.1 {source="ORDO:792/attributed", source="ORDO:792/ntbt", source="DOID:0060763", source="Orphanet:792"}
xref: NCIT:C75483 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.46"}
xref: OMIM:312700 {source="DOID:0060763", source="MONDO:equivalentTo", source="ORDO:792/e", source="Orphanet:792"}
xref: Orphanet:792 {source="DOID:0060763", source="MONDO:equivalentTo", source="OMIM:312700"}
xref: SCTID:86923008 {source="MONDO:kboom-pr-1.00/0.80/9.16", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004579 {source="DC-OMIM:312700", source="DOID:0060763", source="MONDO:Redundant", source="linkedlifedata"} ! retinoschisis
is_a: MONDO:0015217 {source="Orphanet:792"} ! non-syndromic developmental defect of the eye
is_a: MONDO:0020244 {source="Orphanet:792"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020248 {source="Orphanet:792"} ! vitreoretinal degeneration
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271091
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714753
property_value: exactMatch DOID:0060763
property_value: exactMatch http://identifiers.org/omim/312700
property_value: exactMatch http://identifiers.org/snomedct/86923008
property_value: exactMatch NCIT:C75483
property_value: exactMatch Orphanet:792

[Term]
id: MONDO:0010726
name: Rett syndrome
def: "Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system." [Orphanet:778]
subset: ordo_disease {source="Orphanet:778"}
synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [OMIM:312750]
synonym: "cerebroatrophic hyperammonemia" EXACT [CSP2005:4001-0114, DOID:1206]
synonym: "Rett syndrome" EXACT [MONDO:Lexical, OMIM:312750]
synonym: "Rett syndrome, atypical" RELATED [OMIM:312750]
synonym: "Rett syndrome, preserved speech variant" RELATED [OMIM:312750]
synonym: "Rett syndrome, Zappella variant" RELATED [OMIM:312750]
synonym: "Rett syndrome; RTT" RELATED [OMIM:312750]
synonym: "Rett's disorder" EXACT [DOID:1206]
synonym: "Rts" RELATED [OMIM:312750]
synonym: "RTT" RELATED [MONDO:Lexical, OMIM:312750]
xref: DOID:1206 {source="MONDO:equivalentTo"}
xref: GARD:0005696 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:F84.2 {source="ORDO:778/e", source="ORDO:778/specific", source="Orphanet:778", source="DOID:1206"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10039000 {source="ORDO:778/e", source="Orphanet:778"}
xref: MESH:D015518 {source="ORDO:778/e", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206"}
xref: NCIT:C75488 {source="MONDO:kboom-pr-0.90/0.78/0.32", source="MONDO:equivalentTo", source="DOID:1206"}
xref: OMIM:312750 {source="ORDO:778/e", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206"}
xref: Orphanet:778 {source="OMIM:312750", source="MONDO:equivalentTo"}
xref: SCTID:68618008 {source="MONDO:equivalentTo", source="DOID:1206", source="MONDO:kboom-pr-0.92/0.83/0.13"}
xref: UMLS:C0035372 {source="ORDO:778/e", source="OMIM:312750", source="NCBI:mim2gene_medline", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="NCIT:C75488"}
is_a: MONDO:0000594 {source="Orphanet:778"} ! pervasive developmental disorder
is_a: MONDO:0017656 {source="Orphanet:778", source="indirect"} ! motor stereotypies
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="Orphanet:778"} ! X-linked syndromic intellectual disability
is_a: MONDO:0100148 ! X-linked complex neurodevelopmental disorder
relationship: disease_has_feature MONDO:0005260 {source="NCIT:C88412"} ! autism (disease)
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:778"} ! monogenic epilepsy
property_value: closeMatch http://identifiers.org/snomedct/192583003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839332
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677682
property_value: exactMatch DOID:1206
property_value: exactMatch http://identifiers.org/meddra/10039000
property_value: exactMatch http://identifiers.org/mesh/D015518
property_value: exactMatch http://identifiers.org/omim/312750
property_value: exactMatch http://identifiers.org/snomedct/68618008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035372
property_value: exactMatch NCIT:C75488
property_value: exactMatch Orphanet:778

[Term]
id: MONDO:0010727
name: Russell-silver syndrome, X-linked
synonym: "Partington syndrome" RELATED [OMIM:312780]
synonym: "Russell-silver syndrome, X-linked" EXACT [OMIM:312780]
synonym: "Russell-Silver-like syndrome with skin pigmentation" RELATED [OMIM:312780]
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:312780 {source="MONDO:equivalentTo"}
xref: SCTID:702412005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.06"}
is_a: MONDO:0008394 {source="ORDO:813/btnt"} ! Silver-Russell syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220775
property_value: exactMatch http://identifiers.org/omim/312780
property_value: exactMatch http://identifiers.org/snomedct/702412005

[Term]
id: MONDO:0010728
name: scarf syndrome
def: "SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." [Orphanet:3134]
subset: ordo_malformation_syndrome {source="Orphanet:3134"}
synonym: "scarf syndrome" EXACT [OMIM:312830]
synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830]
xref: GARD:0000247 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:3134", source="ORDO:3134/attributed", source="ORDO:3134/ntbt"}
xref: MESH:C536625 {source="Orphanet:3134", source="ORDO:3134/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312830 {source="Orphanet:3134", source="ORDO:3134/e", source="MONDO:equivalentTo"}
xref: Orphanet:3134 {source="MONDO:equivalentTo", source="OMIM:312830"}
xref: SCTID:734173003 {source="MONDO:equivalentTo"}
xref: UMLS:C1839321 {source="Orphanet:3134", source="ORDO:3134/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312830"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3134"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:3134"} ! syndromic craniosynostosis
is_a: MONDO:0016175 {source="MESH:C536625", source="Orphanet:3134"} ! cutis laxa
is_a: MONDO:0020119 {source="Orphanet:3134"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536625
property_value: exactMatch http://identifiers.org/omim/312830
property_value: exactMatch http://identifiers.org/snomedct/734173003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839321
property_value: exactMatch Orphanet:3134

[Term]
id: MONDO:0010729
name: X-linked intellectual disability, Schimke type
def: "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." [Orphanet:85285]
subset: ordo_malformation_syndrome {source="Orphanet:85285"}
synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" RELATED [GARD:0009288]
synonym: "choreoathetosis with mental retardation X- linked" RELATED [GARD:0009288]
synonym: "choreoathetosis with mental retardation, X-linked" RELATED [OMIM:312840]
synonym: "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" RELATED [GARD:0009288]
synonym: "Schimke X-linked mental retardation syndrome" RELATED [OMIM:312840]
xref: GARD:0009288 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:85285/attributed", source="ORDO:85285/ntbt", source="Orphanet:85285"}
xref: MESH:C536630 {source="MONDO:equivalentTo", source="ORDO:85285/e", source="MONDO:ontobio", source="Orphanet:85285"}
xref: OMIM:312840 {source="MONDO:equivalentTo", source="ORDO:85285/e", source="Orphanet:85285"}
xref: Orphanet:85285 {source="MONDO:equivalentTo", source="OMIM:312840"}
xref: SCTID:719010001 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1839320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312840", source="ORDO:85285/e", source="Orphanet:85285"}
is_a: MONDO:0020119 {source="Orphanet:85285"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536630
property_value: exactMatch http://identifiers.org/omim/312840
property_value: exactMatch http://identifiers.org/snomedct/719010001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839320
property_value: exactMatch Orphanet:85285

[Term]
id: MONDO:0010730
name: combined immunodeficiency, X-linked
synonym: "CIDX" RELATED [MONDO:Lexical, OMIM:312863]
synonym: "combined immunodeficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312863]
synonym: "combined immunodeficiency, X-linked; CIDX" RELATED [OMIM:312863]
synonym: "immunodeficiency 6" RELATED [OMIM:312863]
synonym: "Xcid" RELATED [OMIM:312863]
xref: OMIM:312863 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="DC-OMIM:312863", source="MONDOLEX:0010730"} ! congenital combined immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1279481
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1706416
property_value: exactMatch http://identifiers.org/omim/312863

[Term]
id: MONDO:0010731
name: Simpson-Golabi-Behmel syndrome
def: "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." [Orphanet:373]
subset: gard_rare {source="GARD:0007649"}
subset: ordo_malformation_syndrome {source="Orphanet:373"}
synonym: "DGSX" EXACT [Orphanet:373]
synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870]
synonym: "Golabi-Rosen syndrome" EXACT [DOID:0060248, Orphanet:373]
synonym: "Sara Angers syndrome" EXACT [DOID:0060248]
synonym: "SDYS" EXACT [Orphanet:373]
synonym: "SGB syndrome" EXACT [DOID:0060248]
synonym: "SGBS" EXACT [Orphanet:373]
synonym: "Sgbs" RELATED [OMIM:312870]
synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373]
xref: GARD:0007649 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="ORDO:373/attributed", source="ORDO:373/ntbt", source="Orphanet:373"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537340 {source="DOID:0060248", source="MONDO:equivalentTo", source="ORDO:373/e", source="Orphanet:373", source="MONDO:ontobio"}
xref: NCIT:C131002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: Orphanet:373 {source="OMIM:312870", source="DOID:0060248", source="MONDO:equivalentTo"}
xref: SCTID:439143004 {source="DOID:0060248", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:373"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:373"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015496 {source="Orphanet:373"} ! macroglossia
is_a: MONDO:0015501 {source="Orphanet:373"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015880 {source="Orphanet:373"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0015945 {source="Orphanet:373"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019716 {source="Orphanet:373"} ! overgrowth syndrome
is_a: MONDO:0019721 {source="Orphanet:373"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020119 {source="Orphanet:373"} ! X-linked syndromic intellectual disability
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796154
property_value: closeMatch NCIT:C118787
property_value: exactMatch http://identifiers.org/mesh/C537340
property_value: exactMatch http://identifiers.org/omim/312870
property_value: exactMatch http://identifiers.org/snomedct/439143004
property_value: exactMatch NCIT:C131002
property_value: exactMatch Orphanet:373
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome xsd:anyURI {source="GARD:0007649"}

[Term]
id: MONDO:0010732
name: spastic paraparesis-deafness syndrome
def: "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." [Orphanet:2815]
subset: ordo_malformation_syndrome {source="Orphanet:2815"}
synonym: "familial spastic paraparesis and deafness" RELATED [GARD:0005555]
synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555]
synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910]
synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815]
xref: GARD:0005555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="ORDO:2815/attributed", source="ORDO:2815/ntbt", source="MONDO:relatedTo", source="Orphanet:2815"}
xref: MESH:C536692 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:312910 {source="MONDO:equivalentTo", source="ORDO:2815/e", source="Orphanet:2815"}
xref: Orphanet:2815 {source="MONDO:equivalentTo", source="OMIM:312910"}
xref: SCTID:715504003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
xref: UMLS:C2931291 {source="MONDO:equivalentTo", source="OMIM:312910", source="ORDO:2815/e", source="Orphanet:2815"}
is_a: MONDO:0019589 {source="Orphanet:2815"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839267
property_value: exactMatch http://identifiers.org/mesh/C536692
property_value: exactMatch http://identifiers.org/omim/312910
property_value: exactMatch http://identifiers.org/snomedct/715504003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931291
property_value: exactMatch Orphanet:2815

[Term]
id: MONDO:0010733
name: hereditary spastic paraplegia 2
def: "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." [Orphanet:99015]
subset: ordo_disease {source="Orphanet:99015"}
synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1]
synonym: "PLP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic gait type 2" EXACT [Orphanet:99015]
synonym: "spastic paraparesis type 2" EXACT [Orphanet:99015]
synonym: "spastic paraplegia 2" RELATED [GARD:0004923]
synonym: "spastic paraplegia 2, X-linked" RELATED [MONDO:Lexical, OMIM:312920]
synonym: "spastic paraplegia 2, X-linked; SPG2" RELATED [OMIM:312920]
synonym: "spastic paraplegia type 2" EXACT [DOID:0110773]
synonym: "SPG2" EXACT [DOID:0110773, MONDO:Lexical, OMIM:312920, Orphanet:99015]
synonym: "Sppx2" RELATED [OMIM:312920]
synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773]
synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015]
xref: DOID:0110773 {source="MONDO:equivalentTo"}
xref: GARD:0004923 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:99015", source="DOID:0110773", source="ORDO:99015/attributed", source="ORDO:99015/ntbt"}
xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="ORDO:99015/e", source="DOID:0110773"}
xref: Orphanet:99015 {source="MONDO:equivalentTo", source="OMIM:312920", source="DOID:0110773"}
xref: SCTID:723622007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839264 {source="Orphanet:99015", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312920", source="ORDO:99015/e"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015150 ! complex hereditary spastic paraplegia
is_a: MONDO:0017916 {source="Orphanet:99015"} ! pure or complex X-linked spastic paraplegia
is_a: MONDO:0018609 {source="Orphanet:99015"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy
property_value: exactMatch DOID:0110773
property_value: exactMatch http://identifiers.org/mesh/C536857
property_value: exactMatch http://identifiers.org/omim/312920
property_value: exactMatch http://identifiers.org/snomedct/723622007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839264
property_value: exactMatch Orphanet:99015

[Term]
id: MONDO:0010734
name: spatial visualization, aptitude for
synonym: "spatial visualization, aptitude for" EXACT [OMIM:313000]
synonym: "Turner syndrome-associated Neurocognitive phenotype" RELATED [OMIM:313000]
synonym: "visuospatial/perceptual abilities" RELATED [OMIM:313000]
xref: MESH:C564058 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:313000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839262 {source="OMIM:313000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564058/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839263
property_value: exactMatch http://identifiers.org/mesh/C564058
property_value: exactMatch http://identifiers.org/omim/313000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839262

[Term]
id: MONDO:0010735
name: Kennedy disease
def: "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." [Orphanet:481]
subset: ordo_disease {source="Orphanet:481"}
synonym: "bulbospinal muscular atrophy, X-linked" RELATED [OMIM:313200]
synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [OMIM:313200]
synonym: "Kennedy disease" EXACT [DOID:0060161, OMIM:313200]
synonym: "Kennedy spinal and bulbar muscular atrophy" RELATED [OMIM:313200]
synonym: "Kennedy's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "SBMA" EXACT [DOID:0060161, Orphanet:481]
synonym: "SMAX1" EXACT [MONDO:Lexical, OMIM:313200, Orphanet:481]
synonym: "spinal and bulbar muscular atrophy" RELATED [OMIM:313200]
synonym: "spinal and bulbar muscular atrophy, X-linked 1" RELATED [MONDO:Lexical, OMIM:313200]
synonym: "spinal and bulbar muscular atrophy, X-linked 1; SMAX1" RELATED [OMIM:313200]
synonym: "spinal and bulbar muscular atrophy, X-linked type 1" EXACT [MONDORULE:1, OMIM:313200]
synonym: "spinal bulbar muscular atrophy" EXACT [DOID:0060161]
synonym: "spinobulbar muscular atrophy" EXACT [DOID:0060161]
synonym: "X-linked BSMA" EXACT [Orphanet:481]
synonym: "X-linked bulbo-spinal atrophy" EXACT [DOID:0060161]
synonym: "X-linked bulbospinal amyotrophy" EXACT [Orphanet:481]
synonym: "X-linked bulbospinal muscular atrophy" EXACT [Orphanet:481]
synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [DOID:0060161, Orphanet:481]
xref: DOID:0060161 {source="MONDO:equivalentTo"}
xref: GARD:0006818 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:481/attributed", source="ORDO:481/ntbt", source="Orphanet:481"}
xref: MedDRA:10068600 {source="ORDO:481/e", source="Orphanet:481"}
xref: NCIT:C85233 {source="MONDO:equivalentTo", source="DOID:0060161", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:313200 {source="MONDO:equivalentTo", source="ORDO:481/e", source="Orphanet:481", source="DOID:0060161"}
xref: Orphanet:481 {source="OMIM:313200", source="MONDO:equivalentTo"}
xref: UMLS:C1839259 {source="NCBI:mim2gene_medline", source="OMIM:313200", source="MONDO:equivalentTo", source="ORDO:481/e", source="Orphanet:481", source="NCIT:C85233", source="DOID:0060161"}
is_a: MONDO:0016115 {source="Orphanet:481"} ! bulbospinal muscular atrophy of adulthood
is_a: MONDO:0018388 {source="Orphanet:481"} ! rare male infertility due to testicular endocrine disorder
property_value: closeMatch http://identifiers.org/mesh/D055534
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931395
property_value: exactMatch DOID:0060161
property_value: exactMatch http://identifiers.org/meddra/10068600
property_value: exactMatch http://identifiers.org/omim/313200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839259
property_value: exactMatch NCIT:C85233
property_value: exactMatch Orphanet:481

[Term]
id: MONDO:0010736
name: split hand-foot malformation 2
def: "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26." [DOID:0090027, PMID:15617554]
subset: gard_rare
synonym: "SHFD2" RELATED [GARD:0004968]
synonym: "SHFM2" EXACT [DOID:0090027, GARD:0004968, MONDO:Lexical, OMIM:313350]
synonym: "SHSF2" RELATED [GARD:0004968, OMIM:313350]
synonym: "split hand foot anomaly - X-linked" RELATED [GARD:0004968]
synonym: "split hand foot deformity 2" RELATED [GARD:0004968]
synonym: "split hand-foot malformation type 2" EXACT [DOID:0090027, MONDORULE:1]
synonym: "split hand/foot malformation X-linked" RELATED [GARD:0004968]
synonym: "split-hand/foot deformity 2" RELATED [OMIM:313350]
synonym: "split-hand/foot malformation 2" RELATED [MONDO:Lexical, OMIM:313350]
synonym: "split-hand/foot malformation 2; SHFM2" RELATED [OMIM:313350]
synonym: "split-hand/split-foot anomaly, X-linked" RELATED [OMIM:313350]
xref: DOID:0090027 {source="MONDO:equivalentTo"}
xref: GARD:0004968 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090027"}
xref: MESH:C564056 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:313350 {source="MONDO:equivalentTo", source="DOID:0090027", source="GARD:0004968"}
is_a: MONDO:0016576 {source="DOID:0090027", source="OMIM:313350"} ! split hand-foot malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839258
property_value: exactMatch DOID:0090027
property_value: exactMatch http://identifiers.org/mesh/C564056
property_value: exactMatch http://identifiers.org/omim/313350

[Term]
id: MONDO:0010737
name: spondyloepiphyseal dysplasia tarda, X-linked
def: "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis , especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis , and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." [https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked]
subset: gard_rare {source="GARD:0004985"}
synonym: "SED" RELATED [GARD:0004985]
synonym: "Sed tarda, X-linked" RELATED [OMIM:313400]
synonym: "SEDT" RELATED [MONDO:Lexical, OMIM:313400]
synonym: "spondyloepiphyseal dysplasia tarda X-linked" RELATED [GARD:0004985]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked" EXACT [MONDO:Lexical, OMIM:313400]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" RELATED [OMIM:313400]
synonym: "spondyloepiphyseal dysplasia, late" RELATED [OMIM:313400]
synonym: "X linked spondyloepiphyseal dysplasia tarda" RELATED [GARD:0004985]
synonym: "X-linked spondyloepiphyseal dysplasia" RELATED [GARD:0004985]
xref: GARD:0004985 {source="MONDO:equivalentTo"}
xref: OMIM:313400 {source="MONDO:equivalentTo"}
is_a: MONDO:0010248 ! X-linked spondyloepimetaphyseal dysplasia
is_a: MONDO:0019667 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia tarda
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220776
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3541456
property_value: exactMatch http://identifiers.org/omim/313400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked xsd:anyURI {source="GARD:0004985"}

[Term]
id: MONDO:0010738
name: spondylometaphyseal dysplasia, Golden type
def: "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." [Orphanet:168544]
subset: ordo_disease {source="Orphanet:168544"}
synonym: "spondylometaphyseal dysplasia Richmond type" RELATED [GARD:0008343]
synonym: "spondylometaphyseal dysplasia X-linked" RELATED [GARD:0008343]
synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420]
synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420]
synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544]
xref: GARD:0008343 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:168544", source="ORDO:168544/attributed", source="ORDO:168544/ntbt"}
xref: MESH:C563124 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:313420 {source="ORDO:168544/e", source="Orphanet:168544", source="MONDO:equivalentTo"}
xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"}
xref: UMLS:C0796172 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:313420", source="Orphanet:168544", source="MONDO:equivalentTo"}
is_a: MONDO:0016763 {source="DC-OMIM:313420", source="MONDOLEX:0010738", source="Orphanet:168544"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C563124
property_value: exactMatch http://identifiers.org/omim/313420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796172
property_value: exactMatch Orphanet:168544

[Term]
id: MONDO:0010739
name: Taqi polymorphism
synonym: "TAQ1" RELATED [MONDO:Lexical, OMIM:313480]
synonym: "Taqi polymorphism" EXACT [MONDO:Lexical, OMIM:313480]
synonym: "TaqI polymorphism; TAQ1" RELATED [OMIM:313480]
xref: OMIM:313480 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839238
property_value: exactMatch http://identifiers.org/omim/313480

[Term]
id: MONDO:0010740
name: taurodontism, microdontia, and dens invaginatus
subset: gard_rare {source="GARD:0010068"}
synonym: "taurodontism, microdontia, and dens invaginatus" EXACT [OMIM:313490]
xref: GARD:0010068 {source="MONDO:equivalentTo"}
xref: MESH:C536947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:313490 {source="MONDO:equivalentTo"}
xref: UMLS:C1839235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:313490"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536947
property_value: exactMatch http://identifiers.org/omim/313490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus xsd:anyURI {source="GARD:0010068"}

[Term]
id: MONDO:0010741
name: tooth agenesis, selective, X-linked, 1
def: "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EDA tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [OMIM:313500]
synonym: "STHAGX1" RELATED [MONDO:Lexical, OMIM:313500]
synonym: "tooth agenesis caused by mutation in EDA" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, X-linked, 1" EXACT [MONDO:Lexical, OMIM:313500]
synonym: "tooth agenesis, selective, X-linked, 1; STHAGX1" RELATED [OMIM:313500]
synonym: "tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1, OMIM:313500]
xref: MESH:C567060 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:313500 {source="MONDO:equivalentTo"}
xref: UMLS:C1970757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:313500"}
is_a: MONDO:0005486 {source="DC-OMIM:313500", source="MONDO:Redundant", source="OMIM:313500"} ! tooth agenesis
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/mesh/C567060
property_value: exactMatch http://identifiers.org/omim/313500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970757

[Term]
id: MONDO:0010742
name: pentalogy of Cantrell
def: "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." [Orphanet:1335]
subset: gard_rare {source="GARD:0007359"}
subset: ordo_malformation_syndrome {source="Orphanet:1335"}
synonym: "Cantrell deformity" EXACT [Orphanet:1335]
synonym: "Cantrell Haller Ravitsch syndrome" RELATED [GARD:0007359]
synonym: "Cantrell pentalogy" RELATED [GARD:0007359]
synonym: "Cantrell syndrome" EXACT [Orphanet:1335]
synonym: "Midline defects, X-linked" RELATED [OMIM:313850]
synonym: "pentalogy of Cantrell" EXACT [OMIM:313850]
synonym: "Tas" RELATED [OMIM:313850]
synonym: "THAS" RELATED [MONDO:Lexical, OMIM:313850]
synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335]
synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850]
synonym: "thoracoabdominal syndrome; THAS" RELATED [OMIM:313850]
xref: GARD:0007359 {source="MONDO:equivalentTo"}
xref: ICD10:Q89.7 {source="ORDO:1335/attributed", source="ORDO:1335/ntbt", source="Orphanet:1335"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058502 {source="ORDO:1335/e", source="MONDO:equivalentTo", source="Orphanet:1335"}
xref: NCIT:C99011 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:313850 {source="ORDO:1335/e", source="MONDO:equivalentTo", source="Orphanet:1335"}
xref: Orphanet:1335 {source="OMIM:313850", source="MONDO:equivalentTo"}
xref: SCTID:281587000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0559483 {source="OMIM:313850", source="ORDO:1335/e", source="MONDO:equivalentTo", source="NCIT:C99011", source="Orphanet:1335"}
is_a: MONDO:0015216 {source="Orphanet:1335"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015880 {source="Orphanet:1335"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0043008 {source="Orphanet:1335"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839172
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839173
property_value: exactMatch http://identifiers.org/mesh/D058502
property_value: exactMatch http://identifiers.org/omim/313850
property_value: exactMatch http://identifiers.org/snomedct/281587000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559483
property_value: exactMatch NCIT:C99011
property_value: exactMatch Orphanet:1335
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell xsd:anyURI {source="GARD:0007359"}

[Term]
id: MONDO:0010743
name: X-linked thrombocytopenia with normal platelets
subset: ordo_etiological_subtype {source="Orphanet:852"}
synonym: "THC" RELATED [OMIM:313900]
synonym: "THC1" RELATED [MONDO:Lexical, OMIM:313900]
synonym: "thrombocytopenia 1" RELATED [MONDO:Lexical, OMIM:313900]
synonym: "thrombocytopenia 1; THC1" RELATED [OMIM:313900]
synonym: "thrombocytopenia type 1" EXACT [MONDORULE:1, OMIM:313900]
synonym: "thrombocytopenia, X-linked" RELATED [OMIM:313900]
synonym: "thrombocytopenia, X-linked, 1" RELATED [OMIM:313900]
synonym: "thrombocytopenia, X-linked, intermittent" RELATED [OMIM:313900]
synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176]
synonym: "XLT" RELATED [GARD:0005176]
xref: GARD:0005176 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.4 {source="Orphanet:852", source="ORDO:852/attributed", source="ORDO:852/ntbt"}
xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="ORDO:852/e"}
xref: Orphanet:852 {source="MONDO:equivalentTo", source="OMIM:313900"}
xref: UMLS:C1839163 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:313900"}
is_a: MONDO:0017057 {source="Orphanet:852"} ! hereditary thrombocytopenia with normal platelets
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839164
property_value: exactMatch http://identifiers.org/omim/313900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839163
property_value: exactMatch Orphanet:852

[Term]
id: MONDO:0010744
name: thrombocytopenia with elevated serum IgA and renal disease
synonym: "thrombocytopenia with elevated serum IgA and renal disease" EXACT [OMIM:314000]
xref: GARD:0010576 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564051 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839162 {source="OMIM:314000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564051
property_value: exactMatch http://identifiers.org/omim/314000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839162

[Term]
id: MONDO:0010745
name: beta-thalassemia-X-linked thrombocytopenia syndrome
def: "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." [Orphanet:231393]
subset: ordo_disease {source="Orphanet:231393"}
synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical, OMIM:314050]
synonym: "thrombocytopenia with BETA-thalassemia, X-linked; XLTT" RELATED [OMIM:314050]
synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis" RELATED [OMIM:314050]
synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941]
synonym: "XLTT" EXACT [MONDO:Lexical, OMIM:314050, Orphanet:231393]
xref: ICD10:D69.4 {source="ORDO:231393/attributed", source="ORDO:231393/ntbt", source="Orphanet:231393"}
xref: MESH:C564050 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C134941 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:314050 {source="MONDO:equivalentTo", source="Orphanet:231393", source="ORDO:231393/e"}
xref: Orphanet:231393 {source="MONDO:equivalentTo", source="OMIM:314050"}
xref: SCTID:718196002 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1839161 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C134941", source="OMIM:314050"}
is_a: MONDO:0016492 {source="Orphanet:231393"} ! beta-thalassemia with other manifestations
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
property_value: exactMatch http://identifiers.org/mesh/C564050
property_value: exactMatch http://identifiers.org/omim/314050
property_value: exactMatch http://identifiers.org/snomedct/718196002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839161
property_value: exactMatch NCIT:C134941
property_value: exactMatch Orphanet:231393

[Term]
id: MONDO:0010746
name: thumbs, congenital Clasped
synonym: "adducted thumbs syndrome" RELATED [OMIM:314100]
synonym: "Clasped thumbs, congenital" RELATED [GARD:0010277]
synonym: "thumbs, congenital Clasped" EXACT [OMIM:314100]
xref: GARD:0010277 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:314100 {source="MONDO:equivalentTo"}
xref: UMLS:CN074234 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431886
property_value: exactMatch http://identifiers.org/omim/314100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074234

[Term]
id: MONDO:0010747
name: X-linked dystonia-parkinsonism
def: "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." [Orphanet:53351]
subset: ordo_disease {source="Orphanet:53351"}
synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical, OMIM:314250]
synonym: "dystonia 3, torsion, X-linked; DYT3" RELATED [OMIM:314250]
synonym: "dystonia-Parkinsonism, X-linked" RELATED [OMIM:314250]
synonym: "DYT-TAF1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT3" EXACT [MONDO:Lexical, OMIM:314250, Orphanet:53351]
synonym: "Lubag" EXACT [Orphanet:53351]
synonym: "Lubag syndrome" EXACT [Orphanet:53351]
synonym: "torsion dystonia-Parkinsonism, Filipino type" RELATED [OMIM:314250]
synonym: "X-linked dystonia Parkinsonism" EXACT [NCIT:C126330]
synonym: "X-linked dystonia-Parkinsonism syndrome" RELATED [GARD:0010533]
synonym: "X-linked dystonia-parkinsonism/Lubag" RELATED [GARD:0010533]
synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533]
synonym: "XDP" EXACT [Orphanet:53351]
xref: DOID:0090057 {source="MONDO:equivalentTo"}
xref: GARD:0010533 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="ORDO:53351/attributed", source="ORDO:53351/ntbt", source="DOID:0090057", source="Orphanet:53351"}
xref: MESH:C564048 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126330 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: OMIM:314250 {source="MONDO:equivalentTo", source="DOID:0090057", source="ORDO:53351/e", source="Orphanet:53351"}
xref: Orphanet:53351 {source="MONDO:equivalentTo", source="DOID:0090057", source="OMIM:314250"}
xref: SCTID:698279003 {source="MONDO:kboom-pr-0.72/0.43/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C1839130 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C126330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:53351", source="OMIM:314250"}
is_a: MONDO:0000477 {source="DOID:0090057"} ! focal dystonia
is_a: MONDO:0017661 {source="Orphanet:53351"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0018329 {source="Orphanet:53351"} ! persistent combined dystonia
property_value: exactMatch DOID:0090057
property_value: exactMatch http://identifiers.org/mesh/C564048
property_value: exactMatch http://identifiers.org/omim/314250
property_value: exactMatch http://identifiers.org/snomedct/698279003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839130
property_value: exactMatch NCIT:C126330
property_value: exactMatch Orphanet:53351

[Term]
id: MONDO:0010748
name: torticollis-keloids-cryptorchidism-renal dysplasia syndrome
def: "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." [Orphanet:3341]
subset: ordo_malformation_syndrome {source="Orphanet:3341"}
synonym: "Goeminne syndrome" RELATED [OMIM:314300]
synonym: "Tkc" RELATED [OMIM:314300]
synonym: "TKCR" RELATED [MONDO:Lexical, OMIM:314300]
synonym: "Tkcr syndrome" RELATED [OMIM:314300]
synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230]
synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300]
synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia; TKCR" RELATED [OMIM:314300]
xref: GARD:0005230 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3341/attributed", source="ORDO:3341/ntbt", source="Orphanet:3341"}
xref: MESH:C536970 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3341", source="ORDO:3341/e"}
xref: OMIM:314300 {source="MONDO:equivalentTo", source="Orphanet:3341", source="ORDO:3341/e"}
xref: Orphanet:3341 {source="OMIM:314300", source="MONDO:equivalentTo"}
xref: UMLS:C1839129 {source="NCBI:mim2gene_medline", source="OMIM:314300", source="MONDO:equivalentTo", source="Orphanet:3341", source="ORDO:3341/e"}
is_a: MONDO:0015620 {source="Orphanet:3341"} ! syndromic urogenital tract malformation
property_value: exactMatch http://identifiers.org/mesh/C536970
property_value: exactMatch http://identifiers.org/omim/314300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839129
property_value: exactMatch Orphanet:3341

[Term]
id: MONDO:0010749
name: trigonocephaly-short stature-developmental delay syndrome
def: "Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." [Orphanet:3369]
subset: ordo_malformation_syndrome {source="Orphanet:3369"}
synonym: "Say Meyer syndrome" RELATED [GARD:0000243]
synonym: "Say-Meyer syndrome" EXACT [Orphanet:3369]
synonym: "trigonocephaly with short stature and developmental delay" RELATED [OMIM:314320]
synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243]
synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243]
xref: GARD:0000243 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:3369", source="ORDO:3369/attributed", source="ORDO:3369/ntbt"}
xref: MESH:C536620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314320 {source="Orphanet:3369", source="ORDO:3369/e", source="MONDO:equivalentTo"}
xref: Orphanet:3369 {source="OMIM:314320", source="MONDO:equivalentTo"}
xref: SCTID:733066002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3369"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:3369"} ! syndromic craniosynostosis
is_a: MONDO:0020119 {source="Orphanet:3369"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839125
property_value: exactMatch http://identifiers.org/mesh/C536620
property_value: exactMatch http://identifiers.org/omim/314320
property_value: exactMatch http://identifiers.org/snomedct/733066002
property_value: exactMatch Orphanet:3369

[Term]
id: MONDO:0010750
name: ulnar hypoplasia-split foot syndrome
def: "Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." [Orphanet:1122]
subset: ordo_malformation_syndrome {source="Orphanet:1122"}
synonym: "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet" RELATED [GARD:0005400]
synonym: "familial ulnar aplasia and lobster claw syndrome" RELATED [GARD:0005400]
synonym: "severe ulnar aplasia and lobster claw feet" RELATED [GARD:0005400]
synonym: "ulnar hypoplasia lobster claw deformity of feet" RELATED [GARD:0005400]
synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [OMIM:314360]
synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orphanet:1122]
synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400]
synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122]
xref: GARD:0005400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q73.8 {source="Orphanet:1122", source="ORDO:1122/attributed", source="ORDO:1122/ntbt"}
xref: MESH:C536936 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314360 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO:equivalentTo"}
xref: Orphanet:1122 {source="MONDO:equivalentTo", source="OMIM:314360"}
xref: UMLS:C1839123 {source="ORDO:1122/e", source="Orphanet:1122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:314360"}
is_a: MONDO:0017433 {source="Orphanet:1122"} ! dysostosis with combined reduction defects of upper and lower limbs
property_value: exactMatch http://identifiers.org/mesh/C536936
property_value: exactMatch http://identifiers.org/omim/314360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839123
property_value: exactMatch Orphanet:1122

[Term]
id: MONDO:0010751
name: unique green phenomenon
synonym: "unique green phenomenon" EXACT [OMIM:314380]
xref: OMIM:314380 {source="MONDO:equivalentTo"}
xref: UMLS:C1839116 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314380"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/314380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839116

[Term]
id: MONDO:0010752
name: VACTERL association, X-linked, with or without hydrocephalus
synonym: "VACTERL association with hydrocephaly, X-linked" RELATED [GARD:0008498]
synonym: "VACTERL association, X-linked, with or without hydrocephalus" EXACT [MONDO:Lexical, OMIM:314390]
synonym: "VACTERL association, X-linked, with or without hydrocephalus; VACTERLX" RELATED [OMIM:314390]
synonym: "VACTERL-H, X-linked" RELATED [OMIM:314390]
synonym: "VACTERLX" RELATED [MONDO:Lexical, OMIM:314390]
synonym: "X-linked VACTERL-H syndrome" RELATED [GARD:0008498]
xref: GARD:0008498 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:314390 {source="MONDO:equivalentTo"}
xref: UMLS:C2931228 {source="MONDO:equivalentTo", source="OMIM:314390"}
is_a: MONDO:0008642 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! VACTERL/vater association
is_a: MONDO:0010172 {source="MONDOLEX:0010752", source="ORDO:3412/btnt"} ! VACTERL with hydrocephalus
is_a: MONDO:0043008 ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839115
property_value: exactMatch http://identifiers.org/omim/314390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931228

[Term]
id: MONDO:0010753
name: cardiac valvular dysplasia, X-linked
subset: gard_rare {source="GARD:0001096"}
synonym: "cardiac valvular dysplasia, X-linked" EXACT [MONDO:Lexical, OMIM:314400]
synonym: "CARDIAC valvular dysplasia, X-linked; CVD1" RELATED [OMIM:314400]
synonym: "CVD1" RELATED [MONDO:Lexical, OMIM:314400]
synonym: "myxomatous valvular dystrophy, X-linked" RELATED [OMIM:314400]
synonym: "valvular heart disease, congenital" RELATED [OMIM:314400]
synonym: "XMVD" RELATED [GARD:0001096]
xref: GARD:0001096 {source="MONDO:equivalentTo"}
xref: MESH:C535576 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314400 {source="MONDO:equivalentTo"}
is_a: MONDO:0015989 {source="ORDO:1864/btnt"} ! congenital valvular dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0262436
property_value: exactMatch http://identifiers.org/mesh/C535576
property_value: exactMatch http://identifiers.org/omim/314400
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked xsd:anyURI {source="GARD:0001096"}

[Term]
id: MONDO:0010754
name: van den Bosch syndrome
def: "Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." [Orphanet:3417]
subset: gard_rare {source="GARD:0005453"}
subset: ordo_malformation_syndrome {source="Orphanet:3417"}
synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" RELATED [GARD:0005453]
synonym: "van den Bosch syndrome" EXACT [OMIM:314500]
xref: GARD:0005453 {source="MONDO:equivalentTo"}
xref: MESH:C563129 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="ORDO:3417/e"}
xref: Orphanet:3417 {source="MONDO:equivalentTo", source="OMIM:314500"}
xref: SCTID:733110004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314500", source="Orphanet:3417"}
is_a: MONDO:0019271 {source="Orphanet:3417"} ! acrokeratoderma
is_a: MONDO:0020119 {source="Orphanet:3417"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C563129
property_value: exactMatch http://identifiers.org/omim/314500
property_value: exactMatch http://identifiers.org/snomedct/733110004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796192
property_value: exactMatch Orphanet:3417
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome xsd:anyURI {source="GARD:0005453"}

[Term]
id: MONDO:0010755
name: vesicoureteral reflux, X-linked
synonym: "vesicoureteral reflux, X-linked" EXACT [MONDO:Lexical, OMIM:314550]
synonym: "vesicoureteral reflux, X-linked; VURX" RELATED [OMIM:314550]
synonym: "VURX" RELATED [MONDO:Lexical, OMIM:314550]
xref: MESH:C564042 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314550 {source="MONDO:equivalentTo"}
xref: UMLS:C1839114 {source="OMIM:314550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017329 ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/mesh/C564042
property_value: exactMatch http://identifiers.org/omim/314550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839114

[Term]
id: MONDO:0010756
name: Von Willebrand disease, X-linked form
synonym: "Von Willebrand disease, X-linked" RELATED [MONDO:cjm]
synonym: "Von Willebrand disease, X-linked form" EXACT [OMIM:314560]
xref: MESH:C564041 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314560 {source="MONDO:equivalentTo"}
xref: UMLS:C1839113 {source="OMIM:314560", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019565 {source="DC-OMIM:314560", source="MESH:C564041", source="MONDOLEX:0010756"} ! hereditary von Willebrand disease
property_value: exactMatch http://identifiers.org/mesh/C564041
property_value: exactMatch http://identifiers.org/omim/314560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839113

[Term]
id: MONDO:0010757
name: widow's peak syndrome
synonym: "widow's peak syndrome" EXACT [OMIM:314570]
synonym: "widow's peak, ptosis, and skeletal anomalies" RELATED [OMIM:314570]
xref: MESH:C564040 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314570 {source="MONDO:equivalentTo"}
xref: UMLS:C1839112 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314570"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564040
property_value: exactMatch http://identifiers.org/omim/314570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839112

[Term]
id: MONDO:0010758
name: intellectual disability-developmental delay-contractures syndrome
def: "Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability." [Orphanet:3454]
subset: ordo_malformation_syndrome {source="Orphanet:3454"}
synonym: "apraxia, oculomotor, with congenital contractures and muscle atrophy" RELATED [OMIM:314580]
synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" RELATED [OMIM:314580]
synonym: "foot contractures-muscle atrophy-oculomotor apraxia syndrome" EXACT [Orphanet:3454]
synonym: "Wieacker syndrome" BROAD [OMIM:314580]
synonym: "Wieacker Wolff syndrome" BROAD [GARD:0007890]
synonym: "Wieacker-Wolff syndrome" BROAD [Orphanet:3454]
synonym: "Wieacker-Wolff syndrome" BROAD [MONDO:Lexical, OMIM:314580]
synonym: "Wieacker-Wolff syndrome, X-linked" EXACT [MONDO:cjm]
synonym: "Wieacker-Wolff syndrome; WRWF" BROAD [OMIM:314580]
synonym: "WRWF" BROAD [OMIM:314580]
synonym: "WRWF" RELATED [MONDO:Lexical, OMIM:314580]
synonym: "WRWFXLR" EXACT [MONDO:cjm]
xref: GARD:0007890 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.8 {source="Orphanet:3454", source="ORDO:3454/attributed", source="ORDO:3454/ntbt"}
xref: MESH:C536703 {source="ORDO:3454/e", source="Orphanet:3454", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:314580 {source="ORDO:3454/e", source="Orphanet:3454", source="MONDO:equivalentTo"}
xref: Orphanet:3454 {source="MONDO:equivalentTo", source="OMIM:314580"}
xref: SCTID:722456001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0025445 ! Wieacker-Wolff syndrome (spectrum)
property_value: exactMatch http://identifiers.org/mesh/C536703
property_value: exactMatch http://identifiers.org/omim/314580
property_value: exactMatch http://identifiers.org/snomedct/722456001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796200
property_value: exactMatch Orphanet:3454

[Term]
id: MONDO:0010759
name: Wildervanck syndrome
def: "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness." [Orphanet:3456]
subset: gard_rare {source="GARD:0005569"}
subset: ordo_malformation_syndrome {source="Orphanet:3456"}
synonym: "cervico-oculo-acoustic dysplasia" RELATED [GARD:0005569]
synonym: "cervico-oculo-acoustic syndrome" RELATED [GARD:0005569]
synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456]
synonym: "COA syndrome" RELATED [GARD:0005569]
synonym: "Wildervanck syndrome" EXACT [OMIM:314600]
xref: GARD:0005569 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3456", source="ORDO:3456/attributed", source="ORDO:3456/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069402 {source="ORDO:3456/e", source="Orphanet:3456"}
xref: OMIM:314600 {source="ORDO:3456/e", source="Orphanet:3456", source="MONDO:equivalentTo"}
xref: Orphanet:3456 {source="MONDO:equivalentTo", source="OMIM:314600"}
xref: SCTID:79665007 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: UMLS:C0265239 {source="ORDO:3456/e", source="NCBI:mim2gene_medline", source="Orphanet:3456", source="MONDO:equivalentTo", source="OMIM:314600"}
is_a: MONDO:0015334 {source="Orphanet:3456"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0019711 {source="Orphanet:3456"} ! dysostosis with predominant vertebral and costal involvement
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/meddra/10069402
property_value: exactMatch http://identifiers.org/mesh/C536706
property_value: exactMatch http://identifiers.org/omim/314600
property_value: exactMatch http://identifiers.org/snomedct/79665007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265239
property_value: exactMatch Orphanet:3456
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome xsd:anyURI {source="GARD:0005569"}

[Term]
id: MONDO:0010760
name: XH antigen
synonym: "XH antigen" EXACT [OMIM:314800]
xref: OMIM:314800 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0604085
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887689
property_value: exactMatch http://identifiers.org/omim/314800

[Term]
id: MONDO:0010761
name: retinitis pigmentosa Y-linked
def: "Y-linked form of retinitis pigmentosa." [MONDO:patterns/y_linked]
synonym: "retinitis pigmentosa, Y-linked" EXACT [MONDO:Lexical, MONDO:patterns/y_linked, OMIM:400004]
synonym: "retinitis pigmentosa, Y-linked; RPY" RELATED [OMIM:400004]
synonym: "RPY" EXACT [DOID:0110418, MONDO:Lexical, OMIM:400004]
synonym: "Y-linked retinitis pigmentosa" EXACT [MONDO:design_pattern]
xref: DOID:0110418 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110418"}
xref: MESH:C564035 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:400004 {source="MONDO:equivalentTo", source="DOID:0110418"}
xref: UMLS:C1839079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:400004"}
is_a: MONDO:0000428 ! Y-linked disease
is_a: MONDO:0019200 {source="DC-OMIM:400004", source="DOID:0110418", source="MESH:C564035", source="MONDO:Redundant", source="OMIM:400004"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110418
property_value: exactMatch http://identifiers.org/mesh/C564035
property_value: exactMatch http://identifiers.org/omim/400004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839079

[Term]
id: MONDO:0010762
name: lymphoma, Hodgkin, Y-linked pseudoautosomal
synonym: "Hodgkin disease, Y-linked Pseudoautosomal" RELATED [OMIM:400021]
synonym: "lymphoma, Hodgkin, Y-linked pseudoautosomal" EXACT [OMIM:400021]
xref: MESH:C564034 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:400021 {source="MONDO:equivalentTo"}
xref: UMLS:C1839076 {source="OMIM:400021", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0010762", source="ORDO:391/btnt"} ! classic Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/mesh/C564034
property_value: exactMatch http://identifiers.org/omim/400021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839076

[Term]
id: MONDO:0010763
name: spermatogenic failure, Y-linked, 1
synonym: "hypospermatogenesis" RELATED [OMIM:400042]
synonym: "incomplete Sertoli cell-only syndrome" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, type 1" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, type 2" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, Y-linked" RELATED [OMIM:400042]
synonym: "spermatogenic failure, Y-linked, 1" EXACT [MONDO:Lexical, OMIM:400042]
synonym: "spermatogenic failure, Y-linked, 1; SPGFY1" RELATED [OMIM:400042]
synonym: "spermatogenic failure, Y-linked, type 1" EXACT [MONDORULE:1, OMIM:400042]
synonym: "SPGFY1" RELATED [MONDO:Lexical, OMIM:400042]
xref: DOID:0070186 {source="MONDO:equivalentTo"}
xref: OMIM:400042 {source="MONDO:equivalentTo"}
is_a: MONDO:0010595 {source="MONDOLEX:0010763"} ! Sertoli cell-only syndrome
is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839073
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839074
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839075
property_value: exactMatch DOID:0070186
property_value: exactMatch http://identifiers.org/omim/400042

[Term]
id: MONDO:0010764
name: deafness, Y-linked 1
synonym: "deafness, Y-linked 1" EXACT [MONDO:Lexical, OMIM:400043]
synonym: "deafness, Y-linked 1; DFNY1" EXACT [OMIM:400043]
synonym: "DFNY1" EXACT [MONDO:Lexical, OMIM:400043]
xref: OMIM:400043 {source="MONDO:equivalentTo"}
xref: UMLS:C3888076 {source="MONDO:equivalentTo"}
is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1824927
property_value: exactMatch http://identifiers.org/omim/400043
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888076

[Term]
id: MONDO:0010765
name: 46,XY complete gonadal dysgenesis
def: "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." [Orphanet:242]
subset: ordo_malformation_syndrome {source="Orphanet:242"}
subset: prototype_pattern
synonym: "46 XY gonadal dysgenesis" EXACT [MONDO:0001968]
synonym: "46, XY CGD" EXACT [GARD:0005068]
synonym: "46, XY complete gonadal dysgenesis" EXACT [GARD:0005068]
synonym: "46, XY pure gonadal dysgenesis" EXACT [GARD:0005068]
synonym: "46,XY CGD" EXACT [Orphanet:242]
synonym: "46,XY gonadal dysgenesis" EXACT [NCIT:C120198]
synonym: "46,XY pure gonadal dysgenesis" EXACT [Orphanet:242]
synonym: "46,XY SEX reversal" EXACT [DOID:14448]
synonym: "gonadal dysgenesis, XY female type" RELATED [GARD:0005068]
synonym: "pure gonadal dysgenesis 46,XY" EXACT [DOID:14448]
synonym: "sex-reversing locus on X" RELATED [OMIM:400044]
synonym: "sex-reversing locus on X, formerly" RELATED [OMIM:400044]
synonym: "Swyer syndrome" EXACT [DOID:14448, Orphanet:242]
synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044]
xref: DOID:14448 {source="MONDO:equivalentTo"}
xref: GARD:0005068 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q99.1 {source="ORDO:242/inclusion", source="ORDO:242/e", source="Orphanet:242"}
xref: MESH:D006061 {source="DOID:14448", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C120198 {source="MONDO:kboom-pr-0.89/0.76/0.12", source="DOID:14448", source="MONDO:equivalentTo"}
xref: OMIMPS:400044 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:400044", source="MONDO:equivalentTo"}
xref: SCTID:95218005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0018054 {source="MEDGEN:kboom-pr97-c98", source="DOID:14448", source="MONDO:equivalentTo", source="NCIT:C120198", source="Orphanet:242"}
xref: UMLS:C2936694 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:242/e", source="Orphanet:242"}
is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis
is_a: MONDO:0016329 {source="Orphanet:242"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0017966 {source="Orphanet:242"} ! 46,XY disorder of gonadal development
is_a: MONDO:0020038 {source="Orphanet:242"} ! gonadal dysgenesis of gynecological interest
relationship: excluded_subClassOf MONDO:0019520 {source="Orphanet:242"} ! syndromic lymphedema
property_value: exactMatch DOID:14448
property_value: exactMatch http://identifiers.org/mesh/D006061
property_value: exactMatch http://identifiers.org/snomedct/95218005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936694
property_value: exactMatch NCIT:C120198
property_value: exactMatch Orphanet:242
property_value: narrowMatch http://identifiers.org/mesh/C567574
property_value: narrowMatch http://identifiers.org/mesh/C567575

[Term]
id: MONDO:0010766
name: 46,XX testicular disorder of sex development
def: "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." [Orphanet:393]
subset: ordo_malformation_syndrome {source="Orphanet:393"}
synonym: "46, XX gonadal sex reversal" RELATED [GARD:0000399]
synonym: "46,XX gonadal dysgenesis, complete, Sry-positive" RELATED [OMIM:400045]
synonym: "46,XX SEX reversal 1" RELATED [MONDO:Lexical, OMIM:400045]
synonym: "46,XX SEX reversal 1; SRXX1" RELATED [OMIM:400045]
synonym: "46,XX Sex reversal type 1" EXACT [MONDORULE:1, OMIM:400045]
synonym: "46,XX Sex reversal, Sry-positive" RELATED [OMIM:400045]
synonym: "46,XX testicular differences of Sex development" EXACT [NCIT:C127170]
synonym: "46,XX testicular disorder of sex development" EXACT [OMIM:400045]
synonym: "46,XX testicular disorders of Sex development" EXACT [NCIT:C127170]
synonym: "46,XX testicular DSD" EXACT [Orphanet:393]
synonym: "46,XX true hermaphroditism, Sry-positive" RELATED [OMIM:400045]
synonym: "De la Chapelle syndrome" EXACT [Orphanet:393]
synonym: "ovotesticular disorder of Sex development" RELATED [OMIM:400045]
synonym: "ovotesticular DSD" RELATED [OMIM:400045]
synonym: "SRXX1" RELATED [MONDO:Lexical, OMIM:400045]
synonym: "XX male syndrome" RELATED [GARD:0000399]
synonym: "XX Male, Sry-positive" RELATED [OMIM:400045]
synonym: "XX sex reversal" RELATED [GARD:0000399]
synonym: "XX, male syndrome" EXACT [Orphanet:393]
xref: GARD:0000399 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q99.1 {source="ORDO:393/attributed", source="ORDO:393/ntbt", source="Orphanet:393"}
xref: MESH:D058531 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393", source="MONDO:ontobio"}
xref: NCIT:C127170 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.33"}
xref: OMIM:400045 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393"}
xref: Orphanet:393 {source="OMIM:400045", source="MONDO:equivalentTo"}
xref: UMLS:C2936419 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393", source="NCIT:C127170"}
xref: UMLS:CN205000 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009299 {source="DC-OMIM:400045", source="MONDOLEX:0010766", source="OMIM:400045"} ! 46 XX gonadal dysgenesis
is_a: MONDO:0020090 {source="Orphanet:393"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/mesh/D058531
property_value: exactMatch http://identifiers.org/omim/400045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205000
property_value: exactMatch NCIT:C127170
property_value: exactMatch Orphanet:393

[Term]
id: MONDO:0010767
name: spermatogenic failure, Y-linked, 2
synonym: "Azf regions" RELATED [OMIM:415000]
synonym: "azoospermia Factor regions" RELATED [OMIM:415000]
synonym: "azoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "oligospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "oligozoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic arrest, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic failure, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic failure, Y-linked, 2" EXACT [MONDO:Lexical, OMIM:415000]
synonym: "spermatogenic failure, Y-linked, 2; SPGFY2" RELATED [OMIM:415000]
synonym: "spermatogenic failure, Y-linked, type 2" EXACT [MONDORULE:1, OMIM:415000]
synonym: "SPGFY2" RELATED [MONDO:Lexical, OMIM:415000]
xref: DOID:0070187 {source="MONDO:equivalentTo"}
xref: MESH:C564030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:415000 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:415000", source="OMIM:415000"} ! azoospermia
is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839071
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839072
property_value: exactMatch DOID:0070187
property_value: exactMatch http://identifiers.org/mesh/C564030
property_value: exactMatch http://identifiers.org/omim/415000

[Term]
id: MONDO:0010768
name: gonadoblastoma
def: "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." [NCIT:C3754]
subset: ordo_disease {source="Orphanet:206484"}
synonym: "gonad blastoma" EXACT [MONDO:patterns/location]
synonym: "gonadoblastoma" EXACT [NCIT:C3754]
xref: DOID:3301 {source="MONDO:equivalentTo"}
xref: ICD10:D39.1 {source="ORDO:206484/ntbt", source="Orphanet:206484"}
xref: ICDO:9073/1 {source="NCIT:C3754"}
xref: MESH:D018238 {source="DOID:3301", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3754 {source="DOID:3301", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:OGBL {source="MONDO:equivalentTo"}
xref: UMLS:C0206661 {source="DOID:3301", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:424500", source="NCIT:C3754"}
is_a: MONDO:0002149 ! reproductive system cancer
is_a: MONDO:0002259 {source="DOID:3301", source="MESH:D018238/inferred", source="MONDO:Redundant", source="NCIT:C3754/inferred", source="OWLReasoner:2017"} ! gonadal disease
is_a: MONDO:0002478 {source="NCIT:C3754"} ! mixed germ cell-sex cord-stromal tumor
is_a: MONDO:0005565 {source="DOID:3301", source="MONDO:Entailed", source="MONDO:Redundant"} ! blastoma
is_a: MONDO:0005853 ! malignant mixed neoplasm
property_value: closeMatch http://identifiers.org/snomedct/74751003
property_value: exactMatch DOID:3301
property_value: exactMatch http://identifiers.org/mesh/D018238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206661
property_value: exactMatch NCIT:C3754

[Term]
id: MONDO:0010769
name: hairy ears, Y-linked
synonym: "hairy ears, Y-linked" EXACT [OMIM:425500]
synonym: "hypertrichosis pinnae auris, Y-linked" RELATED [OMIM:425500]
xref: MESH:C564029 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:425500 {source="MONDO:equivalentTo"}
xref: UMLS:C1839070 {source="OMIM:425500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564029/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564029
property_value: exactMatch http://identifiers.org/omim/425500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839070

[Term]
id: MONDO:0010770
name: ubiquitin-activating enzyme, Y-linked
synonym: "Ube1Y" RELATED [OMIM:489000]
synonym: "ubiquitin-activating enzyme, Y-linked" EXACT [OMIM:489000]
xref: OMIM:489000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839046
property_value: exactMatch http://identifiers.org/omim/489000

[Term]
id: MONDO:0010771
name: histiocytoid cardiomyopathy
def: "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." [Orphanet:137675]
subset: gard_rare
subset: ordo_disease {source="Orphanet:137675"}
synonym: "Arachnocytosis of the myocardium" EXACT [NCIT:C45745]
synonym: "cardiomyopathy, focal Lipid" RELATED [OMIM:500000]
synonym: "cardiomyopathy, infantile histiocytoid" RELATED [OMIM:500000]
synonym: "cardiomyopathy, infantile xanthomatous" RELATED [OMIM:500000]
synonym: "cardiomyopathy, oncocytic" RELATED [OMIM:500000]
synonym: "congenital cardiomyopathy" EXACT [NCIT:C45745]
synonym: "foamy myocardial transformation of infancy" EXACT [Orphanet:137675]
synonym: "focal lipid cardiomyopathy" RELATED [GARD:0009511]
synonym: "histiocytoid cardiomyopathy" EXACT [GARD:0009511]
synonym: "infantile cardiomyopathy with histiocytoid change" EXACT [Orphanet:137675]
synonym: "infantile histiocytoid cardiomyopathy" RELATED [GARD:0009511]
synonym: "infantile xanthomatous cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675]
synonym: "isolated Cardiac lipidosis" EXACT [NCIT:C45745]
synonym: "myocardial hamartoma" EXACT [NCIT:C45745]
synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675]
synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745]
xref: DOID:0080198 {source="MONDO:equivalentTo"}
xref: GARD:0009511 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="Orphanet:137675", source="ORDO:137675/attributed", source="ORDO:137675/ntbt"}
xref: MESH:C535584 {source="Orphanet:137675", source="ORDO:137675/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C45745 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:500000 {source="Orphanet:137675", source="ORDO:137675/e", source="DOID:0080198", source="MONDO:equivalentTo", source="GARD:0009511"}
xref: Orphanet:137675 {source="OMIM:500000", source="MONDO:equivalentTo", source="GARD:0009511"}
xref: UMLS:C1708371 {source="Orphanet:137675", source="ORDO:137675/e", source="OMIM:500000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0009511", source="NCIT:C45745"}
xref: UMLS:CN239812 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015110 {source="Orphanet:137675"} ! genetic cardiac rhythm disease
is_a: MONDO:0016335 {source="Orphanet:137675"} ! mitochondrial disease with dilated cardiomyopathy
property_value: exactMatch DOID:0080198
property_value: exactMatch http://identifiers.org/mesh/C535584
property_value: exactMatch http://identifiers.org/omim/500000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239812
property_value: exactMatch NCIT:C45745
property_value: exactMatch Orphanet:137675
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy xsd:anyURI {source="GARD:0009511"}

[Term]
id: MONDO:0010772
name: Leber optic atrophy and dystonia
synonym: "dystonia familial, with visual failure and striatal lucencies" RELATED [GARD:0008476]
synonym: "dystonia, familial, with visual failure and striatal lucencies" RELATED [MESH:C536024, OMIM:500001]
synonym: "LDYT" RELATED [GARD:0008476]
synonym: "Leber Hereditary optic neuropathy with dystonia" RELATED [MESH:C536024]
synonym: "Leber hereditary optic neuropathy with dystonia" RELATED [OMIM:500001]
synonym: "Leber optic atrophy and dystonia" EXACT [OMIM:500001]
synonym: "Leber's hereditary optic neuropathy with dystonia" RELATED [GARD:0008476]
synonym: "LHON and dystonia" RELATED [GARD:0008476]
synonym: "Marsden syndrome" RELATED [OMIM:500001]
xref: GARD:0008476 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536024 {source="MONDO:equivalentTo"}
xref: OMIM:500001 {source="MONDO:equivalentTo"}
xref: UMLS:C1839040 {source="OMIM:500001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010788 {source="MESH:C536024"} ! Leber hereditary optic neuropathy
is_a: MONDO:0020478 {source="ORDO:99718/btnt"} ! Leber plus disease
property_value: exactMatch http://identifiers.org/mesh/C536024
property_value: exactMatch http://identifiers.org/omim/500001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839040

[Term]
id: MONDO:0010773
name: myopathy and diabetes mellitus
subset: ordo_disease {source="Orphanet:2596"}
synonym: "mitochondrial myopathy with diabetes" RELATED [OMIM:500002]
synonym: "mitochondrial myopathy, lipid type" RELATED [OMIM:500002]
xref: GARD:0003881 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.3 {source="Orphanet:2596", source="ORDO:2596/attributed", source="ORDO:2596/ntbt"}
xref: MESH:C564026 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:500002 {source="ORDO:2596/e", source="Orphanet:2596", source="MONDO:equivalentTo"}
xref: Orphanet:2596 {source="OMIM:500002", source="MONDO:equivalentTo"}
xref: UMLS:C1839028 {source="Orphanet:2596", source="NCBI:mim2gene_medline", source="OMIM:500002", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
is_a: MONDO:0015888 {source="Orphanet:2596"} ! other rare diabetes mellitus
is_a: MONDO:0016117 {source="Orphanet:2596"} ! muscular lipidosis
is_a: MONDO:0016794 {source="Orphanet:2596"} ! maternally-inherited mitochondrial myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564026
property_value: exactMatch http://identifiers.org/omim/500002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839028
property_value: exactMatch Orphanet:2596

[Term]
id: MONDO:0010774
name: striatonigral degeneration, infantile, mitochondrial
synonym: "bilateral striatal Necrosis, infantile, mitochondrial" RELATED [OMIM:500003]
synonym: "infantile bilateral striatal Necrosis, mitochondrial" RELATED [OMIM:500003]
synonym: "striatonigral degeneration, infantile, mitochondrial" EXACT [OMIM:500003]
xref: MESH:C564025 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:500003 {source="MONDO:equivalentTo"}
xref: UMLS:C1839022 {source="OMIM:500003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010080 {source="MONDOLEX:0010774", source="ORDO:225154/btnt"} ! familial infantile bilateral striatal necrosis
property_value: exactMatch http://identifiers.org/mesh/C564025
property_value: exactMatch http://identifiers.org/omim/500003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839022

[Term]
id: MONDO:0010775
name: retinitis pigmentosa-deafness syndrome
def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome." [DOID:0110829, PMID:10090882]
comment: Editor note: check relationship to Usher 3 from ORDO
synonym: "retinitis pigmentosa 21" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 21, formerly" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 8" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 8, formerly" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa-deafness syndrome" EXACT [OMIM:500004]
synonym: "RP21, formerly" RELATED [GARD:0004684]
synonym: "RP8, formerly" RELATED [GARD:0004684]
xref: DOID:0110829 {source="MONDO:equivalentTo"}
xref: GARD:0004684 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110829"}
xref: OMIM:500004 {source="MONDO:equivalentTo", source="DOID:0110829"}
xref: SCTID:57838006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29"}
xref: UMLS:CN033130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019501 {source="DOID:0110829"} ! Usher syndrome
relationship: disease_shares_features_of MONDO:0016485 ! Usher syndrome type 3
property_value: exactMatch DOID:0110829
property_value: exactMatch http://identifiers.org/omim/500004
property_value: exactMatch http://identifiers.org/snomedct/57838006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN033130

[Term]
id: MONDO:0010776
name: hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
synonym: "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" EXACT [OMIM:500005]
xref: MESH:C564024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:500005 {source="MONDO:equivalentTo"}
xref: UMLS:C1839021 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:500005"}
is_a: MONDO:0003847 {source="MESH:C564024/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564024
property_value: exactMatch http://identifiers.org/omim/500005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839021

[Term]
id: MONDO:0010777
name: cardiomyopathy, infantile hypertrophic
xref: OMIM:500006 {source="MONDO:equivalentTo"}
xref: UMLS:C2748884 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/500006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748884

[Term]
id: MONDO:0010778
name: cyclic vomiting syndrome
def: "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." [PMID:22634989, PMID:25332060]
synonym: "CVS" RELATED [MONDO:Lexical, OMIM:500007]
synonym: "Cvs-plus" RELATED [OMIM:500007]
synonym: "cyclic vomiting syndrome" EXACT [MONDO:Lexical, OMIM:500007]
synonym: "cyclic vomiting syndrome with neuromuscular disease" RELATED [OMIM:500007]
synonym: "cyclic vomiting syndrome-plus" RELATED [OMIM:500007]
synonym: "cyclic vomiting syndrome; CVS" RELATED [OMIM:500007]
xref: GARD:0006230 {source="MONDO:equivalentTo"}
xref: OMIM:500007 {source="MONDO:equivalentTo"}
is_a: MONDO:0100070 {source="PMID:22634989"} ! neuroendocrine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152164
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838991
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838992
property_value: exactMatch http://identifiers.org/omim/500007

[Term]
id: MONDO:0010779
name: mitochondrial non-syndromic sensorineural deafness
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:90641"}
synonym: "deafness, isolated, due to mitochondrial transmission" EXACT [GARD:0001709]
synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [OMIM:500008]
synonym: "isolated mitochondrial neurosensory deafness" EXACT [Orphanet:90641]
synonym: "isolated mitochondrial sensorineural deafness" EXACT [Orphanet:90641]
synonym: "mitochondrial non-syndromic neurosensory deafness" EXACT [Orphanet:90641]
xref: GARD:0001709 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="ORDO:90641/attributed", source="ORDO:90641/ntbt", source="Orphanet:90641"}
xref: OMIM:500008 {source="ORDO:90641/e", source="MONDO:equivalentTo", source="Orphanet:90641"}
xref: Orphanet:90641 {source="MONDO:equivalentTo", source="OMIM:500008"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016297 {source="Orphanet:90641"} ! prelingual non-syndromic genetic deafness
is_a: MONDO:0016298 {source="Orphanet:90641"} ! postlingual non-syndromic genetic deafness
is_a: MONDO:0016793 {source="Orphanet:90641"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857332
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151897
property_value: exactMatch http://identifiers.org/omim/500008
property_value: exactMatch Orphanet:90641

[Term]
id: MONDO:0010780
name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency
subset: ordo_disease {source="Orphanet:254864"}
synonym: "benign COX deficiency" EXACT [Orphanet:254864]
synonym: "Cox deficiency myopathy, infantile, transient" RELATED [OMIM:500009]
synonym: "infantile reversible cytochrome C oxidase deficiency myopathy" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy with reversible complex IV deficiency" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy with reversible COX deficiency" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy, infantile, transient" RELATED [MONDO:Lexical, OMIM:500009]
synonym: "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency" RELATED [OMIM:500009]
synonym: "mitochondrial myopathy, infantile, transient; MMIT" RELATED [OMIM:500009]
synonym: "MMIT" RELATED [MONDO:Lexical, OMIM:500009]
synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009]
synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864]
synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864]
xref: ICD10:G71.3 {source="ORDO:254864/attributed", source="ORDO:254864/ntbt", source="Orphanet:254864"}
xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="ORDO:254864/e"}
xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"}
xref: UMLS:C3151898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:500009"}
is_a: MONDO:0009637 {source="DC-OMIM:500009"} ! inborn mitochondrial myopathy
is_a: MONDO:0016794 {source="Orphanet:254864"} ! maternally-inherited mitochondrial myopathy
property_value: exactMatch http://identifiers.org/omim/500009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151898
property_value: exactMatch Orphanet:254864

[Term]
id: MONDO:0010781
name: ataxia and polyneuropathy, adult-onset
xref: MESH:C564020 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:500010 {source="MONDO:equivalentTo"}
xref: UMLS:C1838916 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564020
property_value: exactMatch http://identifiers.org/omim/500010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838916

[Term]
id: MONDO:0010782
name: myopathy, lactic acidosis, and sideroblastic anemia 3
synonym: "MLASA3" RELATED [MONDO:Lexical, OMIM:500011]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [MONDO:Lexical, OMIM:500011]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3; MLASA3" RELATED [OMIM:500011]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1, OMIM:500011]
xref: OMIM:500011 {source="MONDO:equivalentTo"}
xref: UMLS:C4225415 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000863 {source="MONDOLEX:0010782", source="ORDO:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia
property_value: exactMatch http://identifiers.org/omim/500011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225415

[Term]
id: MONDO:0010783
name: Alzheimer disease, susceptibility to, mitochondrial
subset: predisposition
synonym: "Alzheimer disease, susceptibility to, mitochondrial" EXACT [OMIM:502500]
xref: OMIM:502500 {source="MONDO:equivalentTo"}
is_a: MONDO:0004975 {source="DC-OMIM:502500", source="MONDOLEX:0010783"} ! Alzheimer disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838990
property_value: exactMatch http://identifiers.org/omim/502500

[Term]
id: MONDO:0010784
name: chloramphenicol toxicity
synonym: "anemia, chloramphenicol-induced" RELATED [OMIM:515000]
synonym: "chloramphenicol resistance" RELATED [OMIM:515000]
synonym: "chloramphenicol toxicity" EXACT [OMIM:515000]
xref: OMIM:515000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008170
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838989
property_value: exactMatch http://identifiers.org/omim/515000

[Term]
id: MONDO:0010785
name: maternally-inherited diabetes and deafness
def: "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." [Orphanet:225]
subset: gard_rare {source="GARD:0004003"}
subset: ordo_disease {source="Orphanet:225"}
synonym: "Ballinger Wallace syndrome" RELATED [GARD:0004003]
synonym: "Ballinger-Wallace syndrome" RELATED [OMIM:520000]
synonym: "diabetes and deafness, maternally inherited" RELATED [GARD:0004003, MONDO:Lexical, OMIM:520000]
synonym: "diabetes and deafness, maternally inherited; MIDD" RELATED [OMIM:520000]
synonym: "diabetes mellitus type II with deafness" RELATED [GARD:0004003]
synonym: "diabetes mellitus, type II, with deafness" RELATED [OMIM:520000]
synonym: "diabetes-deafness syndrome, maternally Transmitted" RELATED [OMIM:520000]
synonym: "maternally inherited diabetes and deafness" RELATED [GARD:0004003]
synonym: "MIDD" EXACT [MONDO:Lexical, OMIM:520000, Orphanet:225]
synonym: "mitochondrial diabetes" EXACT [Orphanet:225]
synonym: "Niddm with deafness" RELATED [OMIM:520000]
synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000]
xref: GARD:0004003 {source="MONDO:equivalentTo"}
xref: ICD10:E13.8 {source="Orphanet:225", source="ORDO:225/attributed", source="ORDO:225/ntbt"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:225/e"}
xref: NCIT:C131859 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.13"}
xref: OMIM:520000 {source="Orphanet:225", source="MONDO:equivalentTo", source="ORDO:225/e"}
xref: Orphanet:225 {source="OMIM:520000", source="MONDO:equivalentTo"}
xref: SCTID:237619009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.49"}
xref: UMLS:C0342289 {source="Orphanet:225", source="MEDGEN:kboom-pr96-c98", source="NCBI:mim2gene_medline", source="OMIM:520000", source="MONDO:equivalentTo", source="ORDO:225/e"}
xref: UMLS:C4330695 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0015888 {source="Orphanet:225"} ! other rare diabetes mellitus
is_a: MONDO:0016793 {source="Orphanet:225"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0019589 {source="Orphanet:225"} ! syndromic genetic deafness
is_a: MONDO:0020265 {source="Orphanet:225"} ! mitochondrial disease with eye involvement
property_value: exactMatch http://identifiers.org/mesh/C536246
property_value: exactMatch http://identifiers.org/omim/520000
property_value: exactMatch http://identifiers.org/snomedct/237619009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330695
property_value: exactMatch NCIT:C131859
property_value: exactMatch Orphanet:225
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness xsd:anyURI {source="GARD:0004003"}

[Term]
id: MONDO:0010786
name: chronic diarrhea with villous atrophy
def: "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." [Orphanet:1670]
subset: ordo_disease {source="Orphanet:1670"}
synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100]
xref: ICD10:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="ORDO:1670/attributed", source="ORDO:1670/ntbt"}
xref: MESH:C564019 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="ORDO:1670/e"}
xref: Orphanet:1670 {source="OMIM:520100", source="MONDO:equivalentTo"}
xref: UMLS:C1838912 {source="Orphanet:1670", source="OMIM:520100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0016792 {source="Orphanet:1670"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
is_a: MONDO:0019126 {source="Orphanet:1670"} ! intractable diarrhea of infancy
property_value: exactMatch http://identifiers.org/mesh/C564019
property_value: exactMatch http://identifiers.org/omim/520100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838912
property_value: exactMatch Orphanet:1670

[Term]
id: MONDO:0010787
name: Kearns-Sayre syndrome
def: "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." [Orphanet:480]
subset: gard_rare {source="GARD:0006817"}
subset: ordo_disease {source="Orphanet:480"}
synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000]
synonym: "CPEO with myopathy" RELATED [OMIM:530000]
synonym: "CPEO with ragged red fibers" RELATED [GARD:0006817]
synonym: "CPEO with ragged-Red fibers" RELATED [OMIM:530000]
synonym: "Kearns-Sayre syndrome" EXACT [MONDO:Lexical, OMIM:530000]
synonym: "Kearns-Sayre syndrome; KSS" RELATED [OMIM:530000]
synonym: "KSS" RELATED [MONDO:Lexical, OMIM:530000]
synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000]
synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000]
synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817]
synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000]
synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817]
synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [OMIM:530000]
synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000]
xref: COHD:81539 {source="MONDO:equivalentTo"}
xref: DOID:12934 {source="MONDO:equivalentTo"}
xref: GARD:0006817 {source="MONDO:equivalentTo"}
xref: ICD10:H49.8 {source="ORDO:480/ntbt", source="Orphanet:480", source="ORDO:480/inclusion"}
xref: ICD10:H49.81 {source="DOID:12934"}
xref: MedDRA:10048804 {source="ORDO:480/e", source="Orphanet:480"}
xref: MESH:D007625 {source="ORDO:480/e", source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480"}
xref: NCIT:C84798 {source="DOID:12934", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:530000 {source="ORDO:480/e", source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480"}
xref: Orphanet:480 {source="OMIM:530000", source="MONDO:equivalentTo"}
xref: SCTID:25792000 {source="DOID:12934", source="MONDO:equivalentTo"}
xref: UMLS:C0022541 {source="NCIT:C84798", source="OMIM:530000", source="ORDO:480/e", source="DOID:12934", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:480"}
is_a: MONDO:0005181 {source="DOID:12934", source="MESH:D007625"} ! progressive external ophthalmoplegia
is_a: MONDO:0015895 {source="Orphanet:480"} ! syndrome with hypoparathyroidism
is_a: MONDO:0016335 {source="Orphanet:480"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0016402 {source="Orphanet:480"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:480"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016792 {source="Orphanet:480"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
is_a: MONDO:0019058 {source="Orphanet:480"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:480"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:480"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020253 {source="Orphanet:480"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020259 ! myopathy with eye involvement
is_a: MONDO:0020265 {source="Orphanet:480"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/51464001
property_value: closeMatch http://identifiers.org/snomedct/77835008
property_value: exactMatch DOID:12934
property_value: exactMatch http://identifiers.org/meddra/10048804
property_value: exactMatch http://identifiers.org/mesh/D007625
property_value: exactMatch http://identifiers.org/omim/530000
property_value: exactMatch http://identifiers.org/snomedct/25792000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022541
property_value: exactMatch NCIT:C84798
property_value: exactMatch Orphanet:480
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome xsd:anyURI {source="GARD:0006817"}

[Term]
id: MONDO:0010788
name: Leber hereditary optic neuropathy
def: "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." [Orphanet:104]
subset: ordo_disease {source="Orphanet:104"}
synonym: "Leber Hereditary optic atrophy" EXACT [NCIT:C84808]
synonym: "Leber hereditary optic neuropathy" EXACT [OMIM:535000]
synonym: "Leber optic atrophy" EXACT [OMIM:535000, Orphanet:104]
synonym: "Leber's hereditary optic neuropathy" EXACT [CSP2005:2042-6601, CSP2005:5000-0048, DOID:705]
synonym: "Leber's optic atrophy" EXACT [DOID:705]
synonym: "Leber’s disease" RELATED [GARD:0006870]
synonym: "LHON" EXACT [Orphanet:104]
synonym: "optic atrophy, Leber type" RELATED [GARD:0006870]
xref: DOID:705 {source="MONDO:equivalentTo"}
xref: GARD:0006870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="Orphanet:104", source="ORDO:104/attributed", source="ORDO:104/ntbt"}
xref: ICD10:H47.22 {source="DOID:705"}
xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"}
xref: NCIT:C84808 {source="DOID:705", source="MONDO:equivalentTo"}
xref: OMIM:535000 {source="Orphanet:104", source="DOID:705", source="MONDO:equivalentTo", source="ORDO:104/e"}
xref: Orphanet:104 {source="OMIM:535000", source="MONDO:equivalentTo"}
xref: SCTID:58610003 {source="DOID:705", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0917796 {source="Orphanet:104", source="OMIM:535000", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="DOID:705", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016327 {source="Orphanet:104"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016335 {source="Orphanet:104"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0016793 {source="Orphanet:104"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0020249 {source="Orphanet:104"} ! hereditary optic neuropathy
is_a: MONDO:0020265 {source="Orphanet:104"} ! mitochondrial disease with eye involvement
is_a: MONDO:0043878 {source="MESH:D029242", source="NCIT:C84808", source="linkedlifedata"} ! hereditary optic atrophy
property_value: closeMatch http://identifiers.org/snomedct/194045006
property_value: closeMatch http://identifiers.org/snomedct/230510002
property_value: exactMatch DOID:705
property_value: exactMatch http://identifiers.org/mesh/D029242
property_value: exactMatch http://identifiers.org/omim/535000
property_value: exactMatch http://identifiers.org/snomedct/58610003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917796
property_value: exactMatch NCIT:C84808
property_value: exactMatch Orphanet:104

[Term]
id: MONDO:0010789
name: MELAS syndrome
def: "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." [Orphanet:550]
subset: ordo_disease {source="Orphanet:550"}
synonym: "MELAS" RELATED [MONDO:Lexical, OMIM:540000]
synonym: "MELAS syndrome" EXACT [OMIM:540000]
synonym: "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes" RELATED [GARD:0007009]
synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke" EXACT [NCIT:C84885]
synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550]
synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550]
synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" EXACT [DOID:3687, MONDO:Lexical, OMIM:540000]
synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; MELAS" RELATED [OMIM:540000]
xref: DOID:3687 {source="MONDO:equivalentTo"}
xref: GARD:0007009 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.41 {source="DOID:3687", source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:550/attributed", source="ORDO:550/ntbt", source="Orphanet:550"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053872 {source="ORDO:550/e", source="Orphanet:550"}
xref: MESH:D017241 {source="DOID:3687", source="MONDO:equivalentTo", source="ORDO:550/e", source="MONDO:ontobio", source="Orphanet:550"}
xref: NCIT:C84885 {source="DOID:3687", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:540000 {source="DOID:3687", source="MONDO:equivalentTo", source="ORDO:550/e", source="Orphanet:550"}
xref: Orphanet:550 {source="MONDO:equivalentTo", source="OMIM:540000"}
xref: SCTID:39925003 {source="DOID:3687", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.46"}
xref: UMLS:C0162671 {source="DOID:3687", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:540000", source="ORDO:550/e", source="Orphanet:550", source="NCIT:C84885"}
is_a: MONDO:0004675 {source="DOID:3687", source="MESH:D017241"} ! mitochondrial encephalomyopathy
is_a: MONDO:0016327 {source="Orphanet:550"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016335 {source="Orphanet:550"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0016402 {source="Orphanet:550"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:550"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016793 {source="Orphanet:550"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0019058 {source="Orphanet:550"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:550"} ! syndromic genetic deafness
is_a: MONDO:0020265 {source="Orphanet:550"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/240097009
property_value: exactMatch DOID:3687
property_value: exactMatch http://identifiers.org/meddra/10053872
property_value: exactMatch http://identifiers.org/mesh/D017241
property_value: exactMatch http://identifiers.org/omim/540000
property_value: exactMatch http://identifiers.org/snomedct/39925003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162671
property_value: exactMatch NCIT:C84885
property_value: exactMatch Orphanet:550

[Term]
id: MONDO:0010790
name: MERRF syndrome
def: "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." [NCIT:P378]
subset: ordo_disease {source="Orphanet:551"}
synonym: "Fukuhara syndrome" EXACT [Orphanet:551]
synonym: "MERRF" RELATED [MONDO:Lexical, OMIM:545000]
synonym: "MERRF syndrome" EXACT [OMIM:545000]
synonym: "myoclonic epilepsy - ragged red fibers" EXACT [DOID:310]
synonym: "myoclonic epilepsy associated with ragged red fibers" RELATED [GARD:0007144]
synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical, OMIM:545000]
synonym: "myoclonic epilepsy associated with ragged-RED fibers; MERRF" RELATED [OMIM:545000]
synonym: "myoclonic epilepsy with ragged red fibers" RELATED [GARD:0007144]
synonym: "myoclonus epilepsy and ragged red fibers" EXACT [DOID:310]
synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT [Orphanet:551]
synonym: "myoclonus with epilepsy and with ragged Red fibers" EXACT [DOID:310]
synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [DOID:310, MTHICD9_2006:277.87]
synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144]
xref: DOID:310 {source="MONDO:equivalentTo"}
xref: GARD:0007144 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.42 {source="MONDO:equivalentTo", source="DOID:310"}
xref: ICD10:G71.3 {source="ORDO:551/attributed", source="ORDO:551/ntbt", source="Orphanet:551"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069825 {source="ORDO:551/e", source="Orphanet:551"}
xref: MESH:D017243 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"}
xref: NCIT:C84889 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.43", source="DOID:310"}
xref: OMIM:545000 {source="MONDO:equivalentTo", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"}
xref: Orphanet:551 {source="OMIM:545000", source="MONDO:equivalentTo"}
xref: SCTID:68448003 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equivalentTo", source="DOID:310"}
xref: UMLS:C0162672 {source="OMIM:545000", source="NCIT:C84889", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"}
is_a: MONDO:0000414 ! childhood electroclinical syndrome
is_a: MONDO:0002254 {source="NCIT:C84889"} ! syndromic disease
is_a: MONDO:0004675 {source="DOID:310", source="MESH:D017243"} ! mitochondrial encephalomyopathy
is_a: MONDO:0016022 {source="DC-OMIM:545000"} ! early myoclonic encephalopathy
is_a: MONDO:0016327 {source="Orphanet:551"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016335 {source="Orphanet:551"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0016402 {source="Orphanet:551"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:551"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016793 {source="Orphanet:551"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0019058 {source="Orphanet:551"} ! neurometabolic disease
is_a: MONDO:0020074 {source="MESH:D017243", source="Orphanet:551"} ! progressive myoclonic epilepsy
is_a: MONDO:0020265 {source="Orphanet:551"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/230426003
property_value: closeMatch http://identifiers.org/snomedct/57254004
property_value: exactMatch DOID:310
property_value: exactMatch http://identifiers.org/meddra/10069825
property_value: exactMatch http://identifiers.org/mesh/D017243
property_value: exactMatch http://identifiers.org/omim/545000
property_value: exactMatch http://identifiers.org/snomedct/68448003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162672
property_value: exactMatch NCIT:C84889
property_value: exactMatch Orphanet:551

[Term]
id: MONDO:0010791
name: myoglobinuria, recurrent
def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes ( MT-CO1 and MT-CO2 ) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." [https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent]
subset: gard_rare {source="GARD:0003879"}
synonym: "myoglobinuria recurrent" RELATED [GARD:0003879]
synonym: "myoglobinuria, recurrent" EXACT [OMIM:550500]
xref: GARD:0003879 {source="MONDO:equivalentTo"}
xref: MESH:C564018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:550500 {source="MONDO:equivalentTo"}
is_a: MONDO:0000866 {source="DC-OMIM:550500", source="MESH:C564018"} ! myoglobinuria
is_a: MONDO:0020504 {source="ORDO:99845/btnt"} ! genetic recurrent myoglobinuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838877
property_value: exactMatch http://identifiers.org/mesh/C564018
property_value: exactMatch http://identifiers.org/omim/550500
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent xsd:anyURI {source="GARD:0003879"}

[Term]
id: MONDO:0010792
name: lethal infantile mitochondrial myopathy
def: "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." [Orphanet:254857]
subset: ordo_disease {source="Orphanet:254857"}
synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857]
synonym: "LIMD" EXACT [Orphanet:254857]
synonym: "LIMM" EXACT [MONDO:Lexical, OMIM:551000, Orphanet:254857]
synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000]
synonym: "mitochondrial myopathy, lethal, infantile; LIMM" RELATED [OMIM:551000]
xref: ICD10:G71.3 {source="ORDO:254857/attributed", source="ORDO:254857/ntbt", source="Orphanet:254857"}
xref: MESH:C564017 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:551000 {source="MONDO:equivalentTo", source="Orphanet:254857", source="ORDO:254857/e"}
xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"}
xref: SCTID:766251006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838876 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:551000", source="Orphanet:254857"}
is_a: MONDO:0009637 {source="DC-OMIM:551000", source="MESH:C564017"} ! inborn mitochondrial myopathy
is_a: MONDO:0016794 {source="Orphanet:254857"} ! maternally-inherited mitochondrial myopathy
property_value: exactMatch http://identifiers.org/mesh/C564017
property_value: exactMatch http://identifiers.org/omim/551000
property_value: exactMatch http://identifiers.org/snomedct/766251006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838876
property_value: exactMatch Orphanet:254857

[Term]
id: MONDO:0010793
name: nephropathy, chronic tubulointerstitial
synonym: "nephropathy, chronic tubulointerstitial" EXACT [OMIM:551200]
xref: MESH:C564016 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:551200 {source="MONDO:equivalentTo"}
xref: UMLS:C1838875 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:551200"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564016
property_value: exactMatch http://identifiers.org/omim/551200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838875

[Term]
id: MONDO:0010794
name: NARP syndrome
def: "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." [Orphanet:644]
subset: ordo_disease {source="Orphanet:644"}
synonym: "NARP" RELATED [GARD:0000262]
synonym: "NARP syndrome" EXACT [OMIM:551500]
synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644]
synonym: "neuropathy ataxia retinitis pigmentosa syndrome" RELATED [GARD:0000262]
synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500]
synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644]
xref: GARD:0000262 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="Orphanet:644", source="ORDO:644/attributed", source="ORDO:644/ntbt"}
xref: MedDRA:10062940 {source="Orphanet:644", source="ORDO:644/e"}
xref: MESH:C537396 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:551500 {source="Orphanet:644", source="MONDO:equivalentTo", source="ORDO:644/e"}
xref: Orphanet:644 {source="MONDO:equivalentTo", source="OMIM:551500"}
xref: UMLS:C1328349 {source="Orphanet:644", source="MONDO:equivalentTo", source="OMIM:551500", source="MEDGEN:kboom-pr92-c96", source="ORDO:644/e"}
is_a: MONDO:0016402 {source="Orphanet:644"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:644"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016793 {source="Orphanet:644"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0019058 {source="Orphanet:644"} ! neurometabolic disease
is_a: MONDO:0020265 {source="Orphanet:644"} ! mitochondrial disease with eye involvement
is_a: MONDO:0020281 {source="Orphanet:644"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838914
property_value: exactMatch http://identifiers.org/meddra/10062940
property_value: exactMatch http://identifiers.org/mesh/C537396
property_value: exactMatch http://identifiers.org/omim/551500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328349
property_value: exactMatch Orphanet:644

[Term]
id: MONDO:0010795
name: oncocytic neoplasm
def: "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" [NCIT:C7072]
synonym: "oncocytic neoplasm" EXACT [NCIT:C7072]
synonym: "oncocytic tumor" EXACT [NCIT:C7072]
synonym: "oncocytoma" EXACT [NCIT:C7072]
synonym: "oncocytoma, benign" EXACT [NCIT:C7072]
xref: NCIT:C7072 {source="MONDO:equivalentTo", source="kboom:pr0.76-conf6.36"}
xref: OMIM:553000 {source="MONDO:equivalentTo"}
xref: UMLS:C1378050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7072"}
is_a: MONDO:0024276 {source="NCIT:C7072"} ! glandular cell neoplasm
property_value: exactMatch http://identifiers.org/omim/553000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1378050
property_value: exactMatch NCIT:C7072

[Term]
id: MONDO:0010796
name: Parkinson disease, mitochondrial
synonym: "Parkinson disease, mitochondrial" EXACT [OMIM:556500]
xref: MESH:C564015 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:556500 {source="MONDO:equivalentTo"}
xref: UMLS:C1838867 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:556500"}
is_a: MONDO:0005180 {source="DC-OMIM:556500", source="MESH:C564015"} ! Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C564015
property_value: exactMatch http://identifiers.org/omim/556500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838867

[Term]
id: MONDO:0010797
name: Pearson syndrome
def: "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." [Orphanet:699]
subset: gard_rare {source="GARD:0007343"}
subset: ordo_disease {source="Orphanet:699"}
synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000]
synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343]
synonym: "Pearson's syndrome" RELATED [GARD:0007343]
synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000]
synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343]
xref: DOID:0060067 {source="MONDO:equivalentTo"}
xref: GARD:0007343 {source="MONDO:equivalentTo"}
xref: ICD10:D64.0 {source="Orphanet:699", source="ORDO:699/attributed", source="ORDO:699/ntbt"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062941 {source="Orphanet:699", source="ORDO:699/e"}
xref: NCIT:C115326 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:557000 {source="DOID:0060067", source="Orphanet:699", source="MONDO:equivalentTo", source="ORDO:699/e"}
xref: Orphanet:699 {source="OMIM:557000", source="MONDO:equivalentTo"}
xref: SCTID:237985009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.14"}
xref: UMLS:C0342784 {source="OMIM:557000", source="MEDGEN:kboom-pr98-c99", source="Orphanet:699", source="MONDO:equivalentTo", source="NCIT:C115326"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0015188 {source="Orphanet:699"} ! metabolic disease with intestinal involvement
is_a: MONDO:0015895 {source="Orphanet:699"} ! syndrome with hypoparathyroidism
is_a: MONDO:0016792 {source="Orphanet:699"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
is_a: MONDO:0018032 {source="Orphanet:699"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0020099 {source="Orphanet:699"} ! constitutional sideroblastic anemia
property_value: exactMatch DOID:0060067
property_value: exactMatch http://identifiers.org/meddra/10062941
property_value: exactMatch http://identifiers.org/omim/557000
property_value: exactMatch http://identifiers.org/snomedct/237985009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342773
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342784
property_value: exactMatch NCIT:C115326
property_value: exactMatch Orphanet:699
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome xsd:anyURI {source="GARD:0007343"}

[Term]
id: MONDO:0010798
name: proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
def: "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." [Orphanet:3390]
subset: ordo_disease {source="Orphanet:3390"}
synonym: "proximal tubulopathy, diabetes mellitus and cerebellar ataxia" RELATED [GARD:0004532]
synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [OMIM:560000]
synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" RELATED [GARD:0004532]
xref: GARD:0004532 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3390/attributed", source="ORDO:3390/ntbt", source="Orphanet:3390"}
xref: MESH:C564014 {source="MONDO:equivalentTo"}
xref: OMIM:560000 {source="MONDO:equivalentTo", source="Orphanet:3390", source="ORDO:3390/e"}
xref: Orphanet:3390 {source="MONDO:equivalentTo", source="OMIM:560000"}
xref: UMLS:C3151959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:560000"}
is_a: MONDO:0016795 {source="Orphanet:3390"} ! mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
is_a: MONDO:0019743 {source="Orphanet:3390"} ! nephropathy secondary to a storage or other metabolic disease
property_value: exactMatch http://identifiers.org/mesh/C564014
property_value: exactMatch http://identifiers.org/omim/560000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151959
property_value: exactMatch Orphanet:3390

[Term]
id: MONDO:0010799
name: aminoglycoside-induced deafness
subset: ordo_etiological_subtype {source="Orphanet:168609"}
subset: predisposition
synonym: "deafness, aminoglycoside-induced" RELATED [OMIM:580000]
synonym: "deafness, streptomycin-induced" RELATED [OMIM:580000]
synonym: "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "streptomycin ototoxicity" RELATED [OMIM:580000]
xref: MESH:C564013 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:580000 {source="MONDO:equivalentTo", source="ORDO:168609/e", source="Orphanet:168609"}
xref: Orphanet:168609 {source="MONDO:equivalentTo", source="OMIM:580000"}
xref: UMLS:C1838854 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:580000"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016298 {source="Orphanet:168609"} ! postlingual non-syndromic genetic deafness
is_a: MONDO:0016793 {source="Orphanet:168609"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: exactMatch http://identifiers.org/mesh/C564013
property_value: exactMatch http://identifiers.org/omim/580000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838854
property_value: exactMatch Orphanet:168609

[Term]
id: MONDO:0010800
name: Wolfram syndrome, mitochondrial form
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" RELATED [OMIM:598500]
synonym: "Didmoad syndrome, mitochondrial form" RELATED [OMIM:598500]
synonym: "Wolfram syndrome, mitochondrial form" EXACT [OMIM:598500]
xref: MESH:C564012 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:598500 {source="MONDO:equivalentTo"}
xref: UMLS:C1838782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:598500"}
is_a: MONDO:0018105 {source="DC-OMIM:598500"} ! Wolfram syndrome
property_value: exactMatch http://identifiers.org/mesh/C564012
property_value: exactMatch http://identifiers.org/omim/598500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838782

[Term]
id: MONDO:0010801
name: spondylocamptodactyly syndrome
def: "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." [Orphanet:3180]
subset: ordo_malformation_syndrome {source="Orphanet:3180"}
synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000]
synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972]
synonym: "spondylocamptodactyly" RELATED [OMIM:600000]
xref: GARD:0004972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="ORDO:3180/attributed", source="ORDO:3180/ntbt", source="Orphanet:3180"}
xref: MESH:C535779 {source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180", source="MONDO:ontobio"}
xref: OMIM:600000 {source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180"}
xref: Orphanet:3180 {source="OMIM:600000", source="MONDO:equivalentTo"}
xref: SCTID:716231009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1838781 {source="OMIM:600000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180"}
xref: UMLS:C4274762 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019694 {source="Orphanet:3180"} ! spondylodysplastic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535779
property_value: exactMatch http://identifiers.org/omim/600000
property_value: exactMatch http://identifiers.org/snomedct/716231009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274762
property_value: exactMatch Orphanet:3180

[Term]
id: MONDO:0010802
name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
def: "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." [Orphanet:2255]
subset: ordo_disease {source="Orphanet:2255"}
synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" RELATED [GARD:0000347]
synonym: "HDCA" RELATED [MONDO:Lexical, OMIM:600001]
synonym: "heart defects, congenital, and other congenital anomalies" RELATED [MONDO:Lexical, OMIM:600001]
synonym: "heart defects, congenital, and other congenital anomalies; HDCA" RELATED [OMIM:600001]
synonym: "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease" RELATED [GARD:0000347]
synonym: "pancreatic agenesis and congenital heart defects" RELATED [OMIM:600001]
synonym: "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" RELATED [OMIM:600001]
synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347]
synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255]
xref: GARD:0000347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2255", source="ORDO:2255/attributed", source="ORDO:2255/ntbt"}
xref: MESH:C564011 {source="MONDO:equivalentTo"}
xref: OMIM:600001 {source="ORDO:2255/e", source="Orphanet:2255", source="MONDO:equivalentTo"}
xref: Orphanet:2255 {source="OMIM:600001", source="MONDO:equivalentTo"}
xref: SCTID:722206009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0015888 {source="Orphanet:2255"} ! other rare diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838780
property_value: exactMatch http://identifiers.org/mesh/C564011
property_value: exactMatch http://identifiers.org/omim/600001
property_value: exactMatch http://identifiers.org/snomedct/722206009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931296
property_value: exactMatch Orphanet:2255

[Term]
id: MONDO:0010803
name: Eiken syndrome
def: "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." [Orphanet:79106]
subset: ordo_malformation_syndrome {source="Orphanet:79106"}
synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002]
synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002]
synonym: "Eiken syndrome" EXACT [OMIM:600002]
xref: MESH:C564010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="ORDO:79106/e"}
xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"}
xref: SCTID:720863002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1838779 {source="Orphanet:79106", source="OMIM:600002", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019692 {source="Orphanet:79106"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
is_a: MONDO:0019705 {source="Orphanet:79106"} ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch http://identifiers.org/mesh/C564010
property_value: exactMatch http://identifiers.org/omim/600002
property_value: exactMatch http://identifiers.org/snomedct/720863002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838779
property_value: exactMatch Orphanet:79106

[Term]
id: MONDO:0010804
name: obsolete BRCATA
synonym: "BRCATA" EXACT [MONDO:Lexical, OMIM:600048]
synonym: "breast cancer, 11-22 translocation-associated" RELATED [MONDO:Lexical, OMIM:600048]
synonym: "breast cancer, 11-22 translocation-associated; BRCATA" RELATED [OMIM:600048]
synonym: "moved to 114480" RELATED [OMIM:600048]
xref: OMIM:600048 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332441
property_value: exactMatch http://identifiers.org/omim/600048
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1698 xsd:string
is_obsolete: true
consider: MONDO:0016419

[Term]
id: MONDO:0010805
name: bladder exstrophy (disease)
def: "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." [Orphanet:93930]
subset: ordo_clinical_subtype {source="Orphanet:93930"}
synonym: "bladder exstrophy" EXACT [MONDO:ambiguous]
synonym: "bladder exstrophy and epispadias Complex" RELATED [OMIM:600057]
synonym: "classic exstrophy of the bladder" EXACT [Orphanet:93930]
synonym: "ectopia vesicae" EXACT [NCIT:C123207]
synonym: "exstrophy of bladder" RELATED [OMIM:600057]
synonym: "exstrophy of the bladder" RELATED [GARD:0006398]
xref: DOID:0080174 {source="MONDO:equivalentTo"}
xref: GARD:0006398 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0002836 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.1 {source="DOID:0080174", source="ORDO:93930/specific", source="ORDO:93930/e", source="Orphanet:93930"}
xref: ICD9:753.5 {source="DOID:0080174", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C123207 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:600057 {source="DOID:0080174", source="MONDO:equivalentTo", source="ORDO:93930/ntbt", source="Orphanet:93930"}
xref: Orphanet:93930 {source="DOID:0080174", source="OMIM:600057", source="MONDO:equivalentTo"}
xref: SCTID:61758007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/7.68"}
xref: UMLS:C0005689 {source="OMIM:600057", source="ORDO:93930/e", source="MONDO:equivalentTo", source="Orphanet:93930", source="NCIT:C123207"}
is_a: MONDO:0017919 {source="DOID:0080174", source="Orphanet:93930"} ! bladder exstrophy-epispadias-cloacal exstrophy complex
property_value: exactMatch DOID:0080174
property_value: exactMatch http://identifiers.org/mesh/D001746
property_value: exactMatch http://identifiers.org/omim/600057
property_value: exactMatch http://identifiers.org/snomedct/61758007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005689
property_value: exactMatch NCIT:C123207
property_value: exactMatch Orphanet:93930

[Term]
id: MONDO:0010806
name: retinitis pigmentosa 13
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010388"}
synonym: "PRPF8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 13" EXACT [MONDO:Lexical, OMIM:600059]
synonym: "retinitis pigmentosa 13; RP13" RELATED [OMIM:600059]
synonym: "retinitis pigmentosa caused by mutation in PRPF8" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 13" EXACT [DOID:0110403, MONDORULE:2, OMIM:600059]
synonym: "RP 13" RELATED [GARD:0010388]
synonym: "RP13" EXACT [DOID:0110403, MONDO:Lexical, OMIM:600059]
xref: DOID:0110403 {source="MONDO:equivalentTo"}
xref: GARD:0010388 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110403", source="MONDO:relatedTo"}
xref: MESH:C564008 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600059 {source="DOID:0110403", source="MONDO:equivalentTo"}
xref: UMLS:C1838702 {source="OMIM:600059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:600059", source="DOID:0110403", source="MESH:C564008", source="MONDO:Redundant", source="OMIM:600059"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110403
property_value: exactMatch http://identifiers.org/mesh/C564008
property_value: exactMatch http://identifiers.org/omim/600059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838702
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13 xsd:anyURI {source="GARD:0010388"}

[Term]
id: MONDO:0010807
name: autosomal recessive nonsyndromic deafness 2
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 2" EXACT [DOID:0110477]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 2" EXACT [DOID:0110477, MONDORULE:1]
synonym: "deafness, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:600060]
synonym: "deafness, autosomal recessive 2; DFNB2" RELATED [OMIM:600060]
synonym: "deafness, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:600060]
synonym: "DFNB2" EXACT [DOID:0110477, MONDO:Lexical, OMIM:600060]
synonym: "MYO7A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [OMIM:600060]
xref: DOID:0110477 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110477"}
xref: MESH:C564007 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600060 {source="MONDO:equivalentTo", source="DOID:0110477"}
xref: UMLS:C1838701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600060"}
is_a: MONDO:0019588 {source="DC-OMIM:600060", source="DOID:0110477", source="MONDO:Redundant", source="OMIM:600060"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110477
property_value: exactMatch http://identifiers.org/mesh/C564007
property_value: exactMatch http://identifiers.org/omim/600060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838701

[Term]
id: MONDO:0010808
name: fatal familial insomnia
def: "Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." [Orphanet:466]
subset: gard_rare {source="GARD:0006429"}
subset: ordo_disease {source="Orphanet:466"}
synonym: "familial fatal insomnia" RELATED [GARD:0006429]
synonym: "fatal familial insomnia" EXACT [MONDO:Lexical, OMIM:600072]
synonym: "fatal familial INSOMNIA; FFI" RELATED [OMIM:600072]
synonym: "FFI" RELATED [MONDO:Lexical, OMIM:600072]
synonym: "Insomnia familial fatal" RELATED [GARD:0006429]
synonym: "Insomnia, fatal familial" RELATED [OMIM:600072]
xref: DOID:0050433 {source="MONDO:equivalentTo"}
xref: GARD:0006429 {source="MONDO:equivalentTo"}
xref: ICD10:A81.8 {source="Orphanet:466", source="ORDO:466/attributed", source="ORDO:466/ntbt"}
xref: ICD10:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"}
xref: ICD9:046.72 {source="DOID:0050433"}
xref: MedDRA:10072077 {source="Orphanet:466", source="ORDO:466/e"}
xref: MESH:D034062 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:466/e"}
xref: NCIT:C84711 {source="DOID:0050433", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:600072 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="ORDO:466/e"}
xref: Orphanet:466 {source="MONDO:equivalentTo", source="OMIM:600072"}
xref: SCTID:83157008 {source="DOID:0050433", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206042 {source="NCIT:C84711", source="Orphanet:466", source="DOID:0050433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:466/e", source="OMIM:600072"}
is_a: MONDO:0013600 {source="MESH:D034062", source="NCIT:C84711", source="linkedlifedata"} ! insomnia (disease)
is_a: MONDO:0017234 {source="Orphanet:466"} ! inherited prion disease
property_value: exactMatch DOID:0050433
property_value: exactMatch http://identifiers.org/meddra/10072077
property_value: exactMatch http://identifiers.org/mesh/D034062
property_value: exactMatch http://identifiers.org/omim/600072
property_value: exactMatch http://identifiers.org/snomedct/83157008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206042
property_value: exactMatch NCIT:C84711
property_value: exactMatch Orphanet:466
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia xsd:anyURI {source="GARD:0006429"}

[Term]
id: MONDO:0010809
name: familial chronic myelocytic leukemia-like syndrome
def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." [DOID:0060761, PMID:8086739]
subset: gard_rare {source="GARD:0010141"}
synonym: "CML-like syndrome, familial" RELATED [OMIM:600080]
synonym: "familial CML-like syndrome" EXACT [DOID:0060761]
synonym: "myelocytic leukemia-like syndrome, familial, chronic" RELATED [OMIM:600080]
xref: DOID:0060761 {source="MONDO:equivalentTo"}
xref: GARD:0010141 {source="MONDO:equivalentTo"}
xref: MESH:C536093 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600080 {source="DOID:0060761", source="MONDO:equivalentTo"}
xref: UMLS:C1838670 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600080"}
is_a: MONDO:0011996 {source="DOID:0060761", source="MONDOLEX:0010809"} ! chronic myelogenous leukemia, BCR-ABL1 positive
property_value: exactMatch DOID:0060761
property_value: exactMatch http://identifiers.org/mesh/C536093
property_value: exactMatch http://identifiers.org/omim/600080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838670
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic xsd:anyURI {source="GARD:0010141"}

[Term]
id: MONDO:0010810
name: vitamin D hydroxylation-deficient rickets, type 1B
def: "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." [NCIT:C131074]
synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:600081]
synonym: "CYP2R1 vitamin D-dependent rickets, type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [OMIM:600081]
synonym: "VDDR1B" RELATED [MONDO:Lexical, OMIM:600081]
synonym: "Vitam D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074]
synonym: "vitamin D 25-Hydroxylase deficiency" EXACT [NCIT:C131074]
synonym: "vitamin D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074]
synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [MONDO:Lexical, OMIM:600081]
synonym: "vitamin D hydroxylation-deficient rickets, type 1B; VDDR1B" RELATED [OMIM:600081]
synonym: "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" EXACT [MONDO:design_pattern]
synonym: "vitamin D-dependent rickets, type 1B" RELATED [OMIM:600081]
xref: MESH:C564005 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131074 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
xref: OMIM:600081 {source="MONDO:equivalentTo"}
xref: UMLS:C1838657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131074", source="OMIM:600081"}
is_a: MONDO:0009924 {source="MONDO:Redundant", source="MONDOLEX:0010810", source="ORDO:289157/btnt"} ! vitamin D-dependent rickets, type 1
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045012 ! steroid metabolism disease
property_value: exactMatch http://identifiers.org/mesh/C564005
property_value: exactMatch http://identifiers.org/omim/600081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838657
property_value: exactMatch NCIT:C131074

[Term]
id: MONDO:0010811
name: benign prostatic hyperplasia (disease)
alt_id: MONDO:0001201
def: "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." [NCIT:C2897]
synonym: "benign hyperplasia of prostate" EXACT [NCIT:C2897]
synonym: "benign hyperplasia of the prostate" EXACT [NCIT:C2897]
synonym: "benign prostate hyperplasia" EXACT [NCIT:C2897]
synonym: "benign prostatic hyperplasia" EXACT [MONDO:ambiguous]
synonym: "benign prostatic hyperplasia - BPH" EXACT [NCIT:C2897]
synonym: "benign prostatic Hypertrophy" EXACT [NCIT:C2897]
synonym: "benign prostatic hypertrophy" EXACT [NCIT:C2897]
synonym: "BPH" RELATED [MONDO:Lexical, OMIM:600082]
synonym: "prostate hypertrophy" BROAD []
synonym: "prostatic hyperplasia, benign" RELATED [MONDO:Lexical, OMIM:600082]
synonym: "prostatic hyperplasia, benign; BPH" RELATED [OMIM:600082]
synonym: "prostatic hypertrophy" BROAD []
xref: COHD:198803 {source="MONDO:equivalentTo"}
xref: DOID:11132 {source="EFO:0000284", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: EFO:0000284 {source="MONDO:equivalentTo"}
xref: HP:0008711 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:600 {source="EFO:0000284"}
xref: ICD9:600.0 {source="EFO:0000284"}
xref: ICD9:600.20 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011470 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: NCIT:C2897 {source="EFO:0000284", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:600082 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: SCTID:266569009 {source="EFO:0000284", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.74/1.57"}
xref: UMLS:C1704272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600082"}
is_a: MONDO:0003105 {source="DOID:11132", source="MESH:D011470", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostate disease
is_a: MONDO:0005043 {source="EFO:0000284", source="MONDO:Redundant", source="NCIT:C2897"} ! hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005001
property_value: exactMatch DOID:11132
property_value: exactMatch http://identifiers.org/mesh/D011470
property_value: exactMatch http://identifiers.org/omim/600082
property_value: exactMatch http://identifiers.org/snomedct/266569009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704272
property_value: exactMatch NCIT:C2897

[Term]
id: MONDO:0010812
name: macrocytosis, familial
synonym: "macrocytosis, familial" EXACT [OMIM:600084]
xref: MESH:C564004 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600084 {source="MONDO:equivalentTo"}
xref: UMLS:C1838656 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600084"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564004
property_value: exactMatch http://identifiers.org/omim/600084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838656

[Term]
id: MONDO:0010813
name: pancreatic beta cell agenesis with neonatal diabetes mellitus
synonym: "pancreatic beta cell agenesis with neonatal diabetes mellitus" EXACT [OMIM:600089]
xref: MESH:C538111 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600089 {source="MONDO:equivalentTo"}
xref: Orphanet:28455 {source="OMIM:600089", source="MONDO:equivalentTo"}
xref: UMLS:C1838655 {source="OMIM:600089", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="Orphanet:28455/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538111
property_value: exactMatch http://identifiers.org/omim/600089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838655
property_value: exactMatch Orphanet:28455

[Term]
id: MONDO:0010814
name: chondrodysplasia-pseudohermaphroditism syndrome
def: "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." [Orphanet:1422]
subset: ordo_malformation_syndrome {source="Orphanet:1422"}
synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644]
synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422]
synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422]
xref: DOID:0060644 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:1422", source="DOID:0060644", source="ORDO:1422/attributed", source="ORDO:1422/ntbt"}
xref: MESH:C536123 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600092 {source="Orphanet:1422", source="ORDO:1422/e", source="DOID:0060644", source="MONDO:equivalentTo"}
xref: Orphanet:1422 {source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"}
xref: SCTID:720851007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1838654 {source="Orphanet:1422", source="NCBI:mim2gene_medline", source="ORDO:1422/e", source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"}
is_a: MONDO:0002254 {source="DOID:0060644", source="MONDOLEX:0010814"} ! syndromic disease
is_a: MONDO:0017978 {source="Orphanet:1422"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0018232 {source="Orphanet:1422"} ! primary bone dysplasia with micromelia
is_a: MONDO:0020042 {source="Orphanet:1422"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch DOID:0060644
property_value: exactMatch http://identifiers.org/mesh/C536123
property_value: exactMatch http://identifiers.org/omim/600092
property_value: exactMatch http://identifiers.org/snomedct/720851007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838654
property_value: exactMatch Orphanet:1422

[Term]
id: MONDO:0010815
name: spondyloepiphyseal dysplasia tarda with characteristic facies
synonym: "spondyloepiphyseal dysplasia tarda with characteristic facies" EXACT [OMIM:600093]
xref: MESH:C564003 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600093 {source="MONDO:equivalentTo"}
xref: UMLS:C1838653 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600093"}
is_a: MONDO:0019667 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia tarda
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C564003
property_value: exactMatch http://identifiers.org/omim/600093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838653

[Term]
id: MONDO:0010816
name: Qazi Markouizos syndrome
def: "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." [Orphanet:3010]
subset: gard_rare {source="GARD:0000371"}
subset: ordo_disease {source="Orphanet:3010"}
synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT [DOID:0050740]
synonym: "Dysharmonic skeletal maturation muscular fibre disproportion" RELATED [GARD:0000371]
synonym: "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome" EXACT [Orphanet:3010]
synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" RELATED [GARD:0000371]
synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096]
synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371]
synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740]
xref: DOID:0050740 {source="MONDO:equivalentTo"}
xref: GARD:0000371 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3010/attributed", source="ORDO:3010/ntbt", source="Orphanet:3010"}
xref: MESH:C536259 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3010/e", source="Orphanet:3010"}
xref: OMIM:600096 {source="DOID:0050740", source="MONDO:equivalentTo", source="ORDO:3010/e", source="Orphanet:3010"}
xref: Orphanet:3010 {source="MONDO:equivalentTo", source="OMIM:600096"}
xref: SCTID:721887007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
xref: UMLS:C2931142 {source="MONDO:equivalentTo", source="ORDO:3010/e", source="OMIM:600096", source="Orphanet:3010"}
is_a: MONDO:0000508 {source="Orphanet:3010"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838651
property_value: exactMatch DOID:0050740
property_value: exactMatch http://identifiers.org/mesh/C536259
property_value: exactMatch http://identifiers.org/omim/600096
property_value: exactMatch http://identifiers.org/snomedct/721887007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931142
property_value: exactMatch Orphanet:3010
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome xsd:anyURI {source="GARD:0000371"}

[Term]
id: MONDO:0010817
name: autosomal dominant nonsyndromic deafness 2A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 2A" EXACT [DOID:0110558]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 2A" EXACT [DOID:0110558, MONDORULE:4]
synonym: "deafness, autosomal dominant 2A" RELATED [MONDO:Lexical, OMIM:600101]
synonym: "deafness, autosomal dominant 2A; DFNA2A" RELATED [OMIM:600101]
synonym: "deafness, autosomal dominant type 2A" EXACT [MONDORULE:4, OMIM:600101]
synonym: "DFNA2A" EXACT [DOID:0110558, MONDO:Lexical, OMIM:600101]
synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110558 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110558"}
xref: MESH:C567441 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600101 {source="DOID:0110558", source="MONDO:equivalentTo"}
xref: UMLS:C2677637 {source="OMIM:600101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:600101", source="DOID:0110558", source="MONDO:Redundant", source="OMIM:600101"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110558
property_value: exactMatch http://identifiers.org/mesh/C567441
property_value: exactMatch http://identifiers.org/omim/600101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677637

[Term]
id: MONDO:0010818
name: retinitis pigmentosa 12
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010376"}
synonym: "CRB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 12" EXACT [MONDO:Lexical, OMIM:600105]
synonym: "retinitis pigmentosa 12; RP12" RELATED [OMIM:600105]
synonym: "retinitis pigmentosa caused by mutation in CRB1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 12" EXACT [DOID:0110358, MONDORULE:2, OMIM:600105]
synonym: "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" RELATED [OMIM:600105]
synonym: "RP 12" RELATED [GARD:0010376]
synonym: "RP with or without Pprpe" RELATED [OMIM:600105]
synonym: "RP with or without preserved Paraarteriole retinal pigment epithelium" RELATED [OMIM:600105]
synonym: "RP12" EXACT [DOID:0110358, MONDO:Lexical, OMIM:600105]
xref: DOID:0110358 {source="MONDO:equivalentTo"}
xref: GARD:0010376 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110358", source="MONDO:relatedTo"}
xref: MESH:C563999 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600105 {source="DOID:0110358", source="MONDO:equivalentTo"}
xref: UMLS:C1838647 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600105"}
is_a: MONDO:0019200 {source="DC-OMIM:600105", source="DOID:0110358", source="MESH:C563999", source="MONDO:Redundant", source="OMIM:600105"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110358
property_value: exactMatch http://identifiers.org/mesh/C563999
property_value: exactMatch http://identifiers.org/omim/600105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838647
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12 xsd:anyURI {source="GARD:0010376"}

[Term]
id: MONDO:0010819
name: Stargardt disease 3
synonym: "macular dystrophy with flecks, type 3" RELATED [OMIM:600110]
synonym: "Stargardt disease 3" EXACT [MONDO:Lexical, OMIM:600110]
synonym: "Stargardt disease 3; STGD3" RELATED [OMIM:600110]
synonym: "Stargardt disease type 3" EXACT [MONDORULE:1, OMIM:600110]
synonym: "Stargardt-like macular dystrophy, autosomal dominant" RELATED [OMIM:600110]
synonym: "STGD3" RELATED [MONDO:Lexical, OMIM:600110]
xref: MESH:C535805 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600110 {source="MONDO:equivalentTo"}
xref: UMLS:C1838644 {source="OMIM:600110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019353 {source="DC-OMIM:600110"} ! Stargardt disease
property_value: exactMatch http://identifiers.org/mesh/C535805
property_value: exactMatch http://identifiers.org/omim/600110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838644

[Term]
id: MONDO:0010820
name: autosomal recessive juvenile Parkinson disease 2
def: "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." [MESH:D020734]
synonym: "autosomal recessive juvenile Parkinson disease" RELATED [GARD:0009642]
synonym: "autosomal recessive juvenile Parkinson disease type 2" EXACT [DOID:0060368, MONDORULE:1]
synonym: "autosomal recessive juvenile Parkinson's disease 2" RELATED [DOID:0060368]
synonym: "JP" RELATED [GARD:0009642]
synonym: "juvenile parkinsonism" RELATED [GARD:0009642]
synonym: "PARK2" RELATED [MONDO:Lexical, OMIM:600116]
synonym: "Parkinson disease 2" RELATED [GARD:0009642]
synonym: "Parkinson disease 2, autosomal recessive juvenile" RELATED [MONDO:Lexical, OMIM:600116]
synonym: "Parkinson disease 2, autosomal recessive juvenile; PARK2" RELATED [OMIM:600116]
synonym: "Parkinson disease autosomal recessive, early onset" RELATED [GARD:0009642]
synonym: "Parkinson disease, juvenile, autosomal recessive" RELATED [OMIM:600116]
synonym: "Parkinsonism, early onset, with diurnal fluctuation" RELATED [GARD:0009642]
synonym: "Parkinsonism, early-onset, with diurnal fluctuation" RELATED [OMIM:600116]
synonym: "PDJ" RELATED [GARD:0009642]
synonym: "PRKN young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in PRKN" EXACT [MONDO:design_pattern]
xref: DOID:0060368 {source="MONDO:equivalentTo"}
xref: GARD:0009642 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600116 {source="MONDO:equivalentTo", source="DOID:0060368"}
xref: UMLS:C1868675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600116"}
is_a: MONDO:0017279 {source="MONDO:Redundant", source="ORDO:2828/btnt"} ! young-onset Parkinson disease
property_value: exactMatch DOID:0060368
property_value: exactMatch http://identifiers.org/omim/600116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868675

[Term]
id: MONDO:0010821
name: familial developmental dysphasia
def: "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." [Orphanet:1799]
subset: gard_rare
subset: ordo_clinical_syndrome {source="Orphanet:1799"}
synonym: "Billard-Toutain-Maheut syndrome" EXACT [Orphanet:1799]
synonym: "developmental dysphasia familial" RELATED [GARD:0001823]
synonym: "developmental language disorder" RELATED [GARD:0001823]
synonym: "dysphasia, familial developmental" RELATED [OMIM:600117]
synonym: "FOXP2-associated dysphasia" EXACT [Orphanet:1799]
synonym: "specific language impairment" RELATED [GARD:0001823]
xref: GARD:0001823 {source="MONDO:equivalentTo"}
xref: ICD10:F80.1 {source="MONDO:relatedTo", source="ORDO:1799/ntbt", source="Orphanet:1799"}
xref: MESH:C563997 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600117 {source="MONDO:equivalentTo", source="ORDO:1799/e", source="Orphanet:1799"}
xref: Orphanet:1799 {source="MONDO:equivalentTo", source="GARD:0001823", source="OMIM:600117"}
xref: SCTID:721220004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1838630 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0001823", source="OMIM:600117", source="Orphanet:1799"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0010821"} ! syndromic disease
is_a: MONDO:0016226 {source="Orphanet:1799"} ! specific language disorder
property_value: exactMatch http://identifiers.org/mesh/C563997
property_value: exactMatch http://identifiers.org/omim/600117
property_value: exactMatch http://identifiers.org/snomedct/721220004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838630
property_value: exactMatch Orphanet:1799
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial xsd:anyURI {source="GARD:0001823"}

[Term]
id: MONDO:0010822
name: Warburg micro syndrome 1
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "micro syndrome" RELATED [OMIM:600118]
synonym: "micro syndrome 1" EXACT [DOID:0110716]
synonym: "RAB3GAP1 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM1" EXACT [DOID:0110716, MONDO:Lexical, OMIM:600118]
synonym: "Warburg micro syndrome 1" EXACT [MONDO:Lexical, OMIM:600118]
synonym: "WARBURG micro syndrome 1; WARBM1" RELATED [OMIM:600118]
synonym: "Warburg micro syndrome caused by mutation in RAB3GAP1" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 1" EXACT [DOID:0110716, MONDORULE:1, OMIM:600118]
xref: DOID:0110716 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0110716"}
xref: OMIM:600118 {source="DOID:0110716", source="MONDO:equivalentTo"}
is_a: MONDO:0016649 {source="DC-OMIM:600118", source="DOID:0110716", source="MONDO:Redundant", source="OMIM:600118"} ! Warburg micro syndrome
property_value: exactMatch DOID:0110716
property_value: exactMatch http://identifiers.org/omim/600118

[Term]
id: MONDO:0010823
name: rhizomelic chondrodysplasia punctata type 3
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009682"}
subset: ordo_etiological_subtype {source="Orphanet:309803"}
synonym: "Agps deficiency" EXACT [DOID:0110853]
synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Alkyglycerone-phosphate synthase deficiency" RELATED [GARD:0009682]
synonym: "alkyldihydroxyacetonephosphate synthase deficiency" EXACT [DOID:0110853, OMIM:600121]
synonym: "alkylglycerone-phosphate synthase deficiency" EXACT [DOID:0110853, OMIM:600121]
synonym: "RCDP3" RELATED [MONDO:Lexical, OMIM:600121]
synonym: "Rcdp3" EXACT [DOID:0110853]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121]
synonym: "rhizomelic chondrodysplasia punctata, type 3; RCDP3" RELATED [OMIM:600121]
xref: DOID:0110853 {source="MONDO:equivalentTo"}
xref: GARD:0009682 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="DOID:0110853", source="MONDO:subClassOf", source="Orphanet:309803", source="ORDO:309803/attributed", source="ORDO:309803/ntbt"}
xref: MESH:C537608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="ORDO:309803/e", source="MONDO:equivalentTo"}
xref: Orphanet:309803 {source="DOID:0110853", source="OMIM:600121", source="MONDO:equivalentTo"}
xref: UMLS:C1838612 {source="OMIM:600121", source="Orphanet:309803", source="ORDO:309803/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015776 {source="DC-OMIM:600121", source="DOID:0110853", source="MESH:C537608", source="MONDO:Redundant", source="MONDOLEX:0010823", source="OMIM:600121", source="Orphanet:309803"} ! rhizomelic chondrodysplasia punctata
property_value: exactMatch DOID:0110853
property_value: exactMatch http://identifiers.org/mesh/C537608
property_value: exactMatch http://identifiers.org/omim/600121
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838612
property_value: exactMatch Orphanet:309803
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 xsd:anyURI {source="GARD:0009682"}

[Term]
id: MONDO:0010824
name: disorder of sex development-intellectual disability syndrome
def: "Verloes-Gillerot-Fryns syndrome is a rare association of malformations." [Orphanet:2983]
subset: ordo_disease {source="Orphanet:2983"}
synonym: "disorder of sex development intellectual disability" RELATED [GARD:0004550]
synonym: "Male pseudohermaphroditism intellectual disability syndrome, Verloes type" RELATED [GARD:0004550]
synonym: "male pseudohermaphroditism/mental retardation syndrome, Verloes type" RELATED [OMIM:600122]
synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [Orphanet:2983]
synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550]
synonym: "Verloes syndrome" RELATED [OMIM:600122]
synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983]
xref: GARD:0004550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q56.3 {source="Orphanet:2983", source="ORDO:2983/attributed", source="ORDO:2983/ntbt"}
xref: MESH:C535693 {source="MONDO:equivalentTo"}
xref: OMIM:600122 {source="ORDO:2983/e", source="Orphanet:2983", source="MONDO:equivalentTo"}
xref: Orphanet:2983 {source="OMIM:600122", source="MONDO:equivalentTo"}
xref: SCTID:719450007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0000508 {source="Orphanet:2983"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017978 {source="Orphanet:2983"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:2983"} ! syndrome with 46,XY disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838611
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931233
property_value: exactMatch http://identifiers.org/mesh/C535693
property_value: exactMatch http://identifiers.org/omim/600122
property_value: exactMatch http://identifiers.org/snomedct/719450007
property_value: exactMatch Orphanet:2983

[Term]
id: MONDO:0010825
name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome
def: "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." [Orphanet:1352]
subset: ordo_malformation_syndrome {source="Orphanet:1352"}
synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123]
synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352]
xref: ICD10:Q87.8 {source="Orphanet:1352", source="ORDO:1352/attributed", source="ORDO:1352/ntbt"}
xref: MESH:C563994 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600123 {source="Orphanet:1352", source="ORDO:1352/e", source="MONDO:equivalentTo"}
xref: Orphanet:1352 {source="OMIM:600123", source="MONDO:equivalentTo"}
xref: UMLS:C1838606 {source="Orphanet:1352", source="OMIM:600123", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015218 {source="Orphanet:1352"} ! syndromic developmental defect of the eye
is_a: MONDO:0015506 {source="Orphanet:1352"} ! rare syndrome with cardiac malformations
is_a: MONDO:0020169 {source="Orphanet:1352"} ! rare disorder with ptosis
is_a: MONDO:0043008 {source="Orphanet:1352"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563994
property_value: exactMatch http://identifiers.org/omim/600123
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838606
property_value: exactMatch Orphanet:1352

[Term]
id: MONDO:0010826
name: childhood absence epilepsy
def: "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." [Orphanet:64280]
subset: ordo_disease {source="Orphanet:64280"}
subset: predisposition
synonym: "absence seizure" RELATED [DOID:1825]
synonym: "petit mal seizure" RELATED [CSP2005:0485-7316, DOID:1825]
synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280]
xref: DOID:1825 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="ORDO:64280/ntbt", source="Orphanet:64280", source="ORDO:64280/inclusion"}
xref: ICD10:G40.A {source="DOID:1825"}
xref: OMIMPS:600131 {source="MONDO:equivalentTo"}
xref: Orphanet:64280 {source="OMIM:600131", source="MONDO:equivalentTo"}
xref: SCTID:50866000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:1825"}
is_a: MONDO:0000414 {source="DOID:1825"} ! childhood electroclinical syndrome
is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: closeMatch http://identifiers.org/mesh/D004832
property_value: closeMatch http://identifiers.org/snomedct/140805008
property_value: closeMatch http://identifiers.org/snomedct/155037000
property_value: closeMatch http://identifiers.org/snomedct/163596002
property_value: closeMatch http://identifiers.org/snomedct/16757004
property_value: closeMatch http://identifiers.org/snomedct/192980007
property_value: closeMatch http://identifiers.org/snomedct/192983009
property_value: closeMatch http://identifiers.org/snomedct/432241000124101
property_value: closeMatch http://identifiers.org/snomedct/79631006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014553
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838604
property_value: closeMatch NCIT:C3023
property_value: exactMatch DOID:1825
property_value: exactMatch http://identifiers.org/snomedct/50866000
property_value: exactMatch NCIT:C50436
property_value: exactMatch Orphanet:64280

[Term]
id: MONDO:0010827
name: retinitis pigmentosa 14
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010385"}
synonym: "retinitis pigmentosa 14" EXACT [MONDO:Lexical, OMIM:600132]
synonym: "retinitis pigmentosa 14; RP14" RELATED [OMIM:600132]
synonym: "retinitis pigmentosa caused by mutation in TULP1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 14" EXACT [DOID:0110381, MONDORULE:2, OMIM:600132]
synonym: "RP 14" RELATED [GARD:0010385]
synonym: "RP14" EXACT [DOID:0110381, MONDO:Lexical, OMIM:600132]
synonym: "TULP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110381 {source="MONDO:equivalentTo"}
xref: GARD:0010385 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110381"}
xref: OMIM:600132 {source="DOID:0110381", source="MONDO:equivalentTo"}
xref: UMLS:C1838603 {source="OMIM:600132", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:600132", source="DOID:0110381", source="MONDO:Redundant", source="OMIM:600132"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110381
property_value: exactMatch http://identifiers.org/omim/600132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838603
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14 xsd:anyURI {source="GARD:0010385"}

[Term]
id: MONDO:0010828
name: retinitis pigmentosa 11
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010383"}
synonym: "PRPF31 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 11" EXACT [MONDO:Lexical, OMIM:600138]
synonym: "retinitis pigmentosa 11; RP11" RELATED [OMIM:600138]
synonym: "retinitis pigmentosa caused by mutation in PRPF31" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 11" EXACT [DOID:0110408, MONDORULE:2, OMIM:600138]
synonym: "RP 11" RELATED [GARD:0010383]
synonym: "RP11" EXACT [DOID:0110408, MONDO:Lexical, OMIM:600138]
xref: DOID:0110408 {source="MONDO:equivalentTo"}
xref: GARD:0010383 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110408"}
xref: MESH:C563991 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600138 {source="DOID:0110408", source="MONDO:equivalentTo"}
xref: UMLS:C1838601 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600138"}
is_a: MONDO:0019200 {source="DC-OMIM:600138", source="DOID:0110408", source="MESH:C563991", source="MONDO:Redundant", source="OMIM:600138"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110408
property_value: exactMatch http://identifiers.org/mesh/C563991
property_value: exactMatch http://identifiers.org/omim/600138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838601
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11 xsd:anyURI {source="GARD:0010383"}

[Term]
id: MONDO:0010829
name: CARASIL
def: "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." [Orphanet:199354]
subset: ordo_disease {source="Orphanet:199354"}
synonym: "CARASIL" EXACT [MONDO:Lexical, OMIM:600142]
synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142]
synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy; CARASIL" RELATED [OMIM:600142]
synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [Orphanet:199354]
synonym: "cerebrovascular disease with thin skin, alopecia, and disc disease" RELATED [OMIM:600142]
synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354]
synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142]
xref: GARD:0010424 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:F01.1 {source="Orphanet:199354", source="ORDO:199354/attributed", source="ORDO:199354/ntbt"}
xref: MESH:C563990 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600142 {source="Orphanet:199354", source="ORDO:199354/e", source="MONDO:equivalentTo"}
xref: Orphanet:199354 {source="OMIM:600142", source="MONDO:equivalentTo"}
xref: SCTID:703219008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1838577 {source="OMIM:600142", source="Orphanet:199354", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018831 {source="Orphanet:199354"} ! HTRA1-related cerebral small vessel disease
property_value: exactMatch http://identifiers.org/mesh/C563990
property_value: exactMatch http://identifiers.org/omim/600142
property_value: exactMatch http://identifiers.org/snomedct/703219008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838577
property_value: exactMatch Orphanet:199354

[Term]
id: MONDO:0010830
name: neuronal ceroid lipofuscinosis 8
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:228354"}
synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical, OMIM:600143]
synonym: "ceroid lipofuscinosis, neuronal, 8; CLN8" RELATED [OMIM:600143]
synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:600143]
synonym: "CLN8" EXACT [DOID:0110723]
synonym: "CLN8" RELATED [MONDO:Lexical, OMIM:600143]
synonym: "CLN8 disease" RELATED [Orphanet:228354]
synonym: "CLN8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1]
xref: DOID:0110723 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:228354/attributed", source="ORDO:228354/ntbt", source="DOID:0110723", source="Orphanet:228354"}
xref: OMIM:600143 {source="DOID:0110723", source="MONDO:equivalentTo", source="ORDO:228354/e", source="Orphanet:228354"}
xref: Orphanet:228354 {source="OMIM:600143", source="DOID:0110723", source="MONDO:equivalentTo"}
xref: SCTID:703526007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228354"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838570
property_value: exactMatch DOID:0110723
property_value: exactMatch http://identifiers.org/omim/600143
property_value: exactMatch http://identifiers.org/snomedct/703526007
property_value: exactMatch Orphanet:228354

[Term]
id: MONDO:0010831
name: familial caudal dysgenesis
def: "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." [Orphanet:1768]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1768"}
synonym: "caudal dysgenesis familial type" RELATED [GARD:0000215]
synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751, OMIM:600145]
synonym: "caudal regression" EXACT [NCIT:C99054]
synonym: "caudal regression syndrome" RELATED [OMIM:600145]
synonym: "familial caudal dysgenesis" EXACT [GARD:0004751]
synonym: "Rudd-Klimek syndrome" EXACT [GARD:0000215, GARD:0004751, Orphanet:1768]
synonym: "sacral agenesis" RELATED [OMIM:600145]
synonym: "sacral defect with anterior meningocele" RELATED [OMIM:600145]
synonym: "SDAM" RELATED [GARD:0004751]
synonym: "Sdam" RELATED [OMIM:600145]
synonym: "sirenomelia" RELATED [OMIM:600145]
xref: GARD:0000215 {source="MONDO:equivalentTo"}
xref: GARD:0004751 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1768/attributed", source="ORDO:1768/ntbt", source="Orphanet:1768"}
xref: NCIT:C99054 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.47/0.46"}
xref: OMIM:600145 {source="GARD:0004751", source="MONDO:equivalentTo"}
xref: Orphanet:1768 {source="GARD:0004751", source="OMIM:600145", source="GARD:0000215", source="MONDO:equivalentTo"}
xref: SCTID:722493007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
is_a: MONDO:0017120 {source="Orphanet:1768"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0018639 {source="Orphanet:1768"} ! caudal regression-sirenomelia spectrum
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:1768", source="Orphanet:1768/inferred"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838569
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931053
property_value: exactMatch http://identifiers.org/omim/600145
property_value: exactMatch http://identifiers.org/snomedct/722493007
property_value: exactMatch NCIT:C99054
property_value: exactMatch Orphanet:1768

[Term]
id: MONDO:0010832
name: Bardet-Biedl syndrome 3
subset: gard_rare {source="GARD:0000822"}
synonym: "Bardet-Biedl syndrome 3" EXACT [MONDO:Lexical, OMIM:600151]
synonym: "Bardet-Biedl syndrome 3; BBS3" RELATED [OMIM:600151]
synonym: "Bardet-Biedl syndrome type 3" EXACT [DOID:0110125, MONDORULE:1, OMIM:600151]
synonym: "BBS3" EXACT [DOID:0110125, MONDO:Lexical, OMIM:600151]
xref: DOID:0110125 {source="MONDO:equivalentTo"}
xref: GARD:0000822 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110125"}
xref: MESH:C537911 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600151 {source="MONDO:equivalentTo", source="DOID:0110125"}
xref: UMLS:C1859564 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:600151", source="DOID:0110125", source="MESH:C537911", source="OMIM:600151"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110125
property_value: exactMatch http://identifiers.org/mesh/C537911
property_value: exactMatch http://identifiers.org/omim/600151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859564
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 xsd:anyURI {source="GARD:0000822"}

[Term]
id: MONDO:0010833
name: Hirschsprung disease, susceptibility to, 2
def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EDNRB Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in EDNRB" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease type 2" RELATED [GARD:0002698]
synonym: "Hirschsprung disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:600155]
synonym: "Hirschsprung disease, susceptibility to, 2; HSCR2" RELATED [OMIM:600155]
synonym: "Hirschsprung disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:600155]
synonym: "HSCR2" RELATED [MONDO:Lexical, OMIM:600155]
synonym: "susceptibility to Hirschsprung disease 2" RELATED [OMIM:600155]
xref: GARD:0002698 {source="MONDO:equivalentTo"}
xref: OMIM:600155 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018309 {source="DC-OMIM:600155", source="MONDO:Redundant", source="MONDOLEX:0010833", source="OMIM:600155"} ! Hirschsprung disease
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838564
property_value: exactMatch http://identifiers.org/omim/600155
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2 xsd:anyURI {source="GARD:0002698"}

[Term]
id: MONDO:0010834
name: HSCR5
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:600156]
synonym: "Hirschsprung disease, susceptibility to, 5; HSCR5" RELATED [OMIM:600156]
synonym: "HSCR5" EXACT [MONDO:Lexical, OMIM:600156]
xref: OMIM:600156 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970723
property_value: exactMatch http://identifiers.org/omim/600156

[Term]
id: MONDO:0010835
name: pterygium colli-intellectual disability-digital anomalies syndrome
def: "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." [Orphanet:2988]
subset: ordo_malformation_syndrome {source="Orphanet:2988"}
synonym: "khalifa-Graham syndrome" EXACT [Orphanet:2988]
synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED [OMIM:600159]
synonym: "pterygium colli mental retardation digital anomalies" RELATED [GARD:0004568]
xref: GARD:0004568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2988/attributed", source="ORDO:2988/ntbt", source="Orphanet:2988"}
xref: MESH:C535831 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="ORDO:2988/e"}
xref: Orphanet:2988 {source="MONDO:equivalentTo", source="OMIM:600159"}
xref: SCTID:719256004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C1838562 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600159", source="Orphanet:2988", source="ORDO:2988/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2988", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2988"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535831
property_value: exactMatch http://identifiers.org/omim/600159
property_value: exactMatch http://identifiers.org/snomedct/719256004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838562
property_value: exactMatch Orphanet:2988

[Term]
id: MONDO:0010836
name: NNO1
synonym: "microphthalmos, simple, autosomal dominant" RELATED [OMIM:600165]
synonym: "Nanophthalmia 1" RELATED [OMIM:600165]
synonym: "nanophthalmos 1" RELATED [MONDO:Lexical, OMIM:600165]
synonym: "nanophthalmos 1; NNO1" RELATED [OMIM:600165]
synonym: "nanophthalmos with high hyperopia and angle-closure glaucoma" RELATED [OMIM:600165]
synonym: "nanophthalmos, autosomal dominant" RELATED [OMIM:600165]
synonym: "NNO1" EXACT [MONDO:Lexical, OMIM:600165]
xref: MESH:C563983 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600165 {source="MONDO:equivalentTo"}
xref: UMLS:C1838502 {source="OMIM:600165", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005514 {source="DC-OMIM:600165"} ! nanophthalmia
property_value: exactMatch http://identifiers.org/mesh/C563983
property_value: exactMatch http://identifiers.org/omim/600165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838502

[Term]
id: MONDO:0010837
name: primary hyperparathyroidism (disease)
def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." [NCIT:P378]
comment: Editor note: check relationship to parent and familiar form
synonym: "familial benign hypercalcemia" EXACT EXCLUDE [DOID:11202]
synonym: "familial primary hyperparathyroidism" EXACT EXCLUDE [DOID:11202]
synonym: "primary hyperparathyroidism" EXACT [MONDO:ambiguous, NCIT:C48280]
xref: COHD:136934 {source="MONDO:equivalentTo"}
xref: DOID:11202 {source="MONDO:equivalentTo"}
xref: EFO:0008519 {source="MONDO:equivalentTo"}
xref: GARD:0008612 {source="MONDO:equivalentTo"}
xref: HP:0008200 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E21.0 {source="DOID:11202"}
xref: ICD9:252.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:11202"}
xref: MESH:D049950 {source="MONDO:equivalentTo", source="DOID:11202"}
xref: NCIT:C48280 {source="MONDO:equivalentTo", source="DOID:11202", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:36348003 {source="MONDO:kboom-pr-0.88/0.75/0.13", source="MONDO:equivalentTo", source="DOID:11202"}
is_a: MONDO:0001741 {source="DOID:11202", source="EFO:0008519", source="MESH:D049950", source="MONDO:Redundant", source="NCIT:C48280", source="linkedlifedata"} ! hyperparathyroidism
property_value: closeMatch http://identifiers.org/snomedct/190452007
property_value: closeMatch http://identifiers.org/snomedct/237653008
property_value: closeMatch http://identifiers.org/snomedct/54920000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271846
property_value: exactMatch DOID:11202
property_value: exactMatch http://identifiers.org/mesh/D049950
property_value: exactMatch http://identifiers.org/snomedct/36348003
property_value: exactMatch NCIT:C48280

[Term]
id: MONDO:0010838
name: gonadal agenesis
def: "A congenital disorder characterized by the complete absence of gonadal tissue." [NCIT:C27228]
comment: See https://github.com/obophenotype/human-phenotype-ontology/issues/3571
synonym: "gonadal agenesis" EXACT [OMIM:600171]
xref: NCIT:C27228 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:600171 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949331
property_value: exactMatch http://identifiers.org/omim/600171
property_value: exactMatch NCIT:C27228

[Term]
id: MONDO:0010839
name: autosomal dominant congenital benign spinal muscular atrophy
def: "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." [Orphanet:1216]
subset: ordo_disease {source="Orphanet:1216"}
synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [Orphanet:1216]
synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [Orphanet:1216]
synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [Orphanet:1216]
synonym: "HMN8" RELATED [MONDO:Lexical, OMIM:600175]
synonym: "neuronopathy, distal hereditary motor, type 8" RELATED [OMIM:600175]
synonym: "neuronopathy, distal hereditary motor, type VIII" RELATED [MONDO:Lexical, OMIM:600175]
synonym: "neuronopathy, distal hereditary motor, type VIII; HMN8" RELATED [OMIM:600175]
synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175]
synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175]
synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:1216/attributed", source="ORDO:1216/ntbt", source="Orphanet:1216"}
xref: MESH:C563981 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600175 {source="MONDO:equivalentTo", source="ORDO:1216/e", source="Orphanet:1216"}
xref: Orphanet:1216 {source="OMIM:600175", source="MONDO:equivalentTo"}
xref: SCTID:763067000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838492 {source="OMIM:600175", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="DC-OMIM:600175", source="MESH:C563981"} ! spinal muscular atrophy
is_a: MONDO:0015362 {source="Orphanet:1216"} ! autosomal dominant distal hereditary motor neuropathy
property_value: exactMatch http://identifiers.org/mesh/C563981
property_value: exactMatch http://identifiers.org/omim/600175
property_value: exactMatch http://identifiers.org/snomedct/763067000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838492
property_value: exactMatch Orphanet:1216

[Term]
id: MONDO:0010840
name: pachygyria-intellectual disability-epilepsy syndrome
def: "Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." [Orphanet:2798]
subset: ordo_malformation_syndrome {source="Orphanet:2798"}
synonym: "Kuzniecky syndrome" EXACT [Orphanet:2798]
synonym: "pachygyria with mental retardation and seizures" RELATED [OMIM:600176]
synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED [OMIM:600176]
synonym: "pachygyria, mental retardation and epilepsy" RELATED [GARD:0000409]
xref: GARD:0000409 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.4 {source="ORDO:2798/attributed", source="ORDO:2798/ntbt", source="Orphanet:2798"}
xref: MESH:C538091 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600176 {source="ORDO:2798/e", source="MONDO:equivalentTo", source="Orphanet:2798"}
xref: Orphanet:2798 {source="OMIM:600176", source="MONDO:equivalentTo"}
xref: SCTID:763861000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838491 {source="OMIM:600176", source="ORDO:2798/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2798", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:2798"} ! syndromic intellectual disability
is_a: MONDO:0015655 {source="Orphanet:2798"} ! cerebral malformation with epilepsy
property_value: exactMatch http://identifiers.org/mesh/C538091
property_value: exactMatch http://identifiers.org/omim/600176
property_value: exactMatch http://identifiers.org/snomedct/763861000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838491
property_value: exactMatch Orphanet:2798

[Term]
id: MONDO:0010841
name: Waardenburg syndrome type 2B
subset: gard_rare {source="GARD:0005522"}
synonym: "Waardenburg syndrome type IIB" EXACT [DOID:0110947]
synonym: "Waardenburg syndrome, type 2B" RELATED [MONDO:Lexical, OMIM:600193]
synonym: "Waardenburg syndrome, type 2B; WS2B" RELATED [OMIM:600193]
synonym: "WS2B" EXACT [DOID:0110947, MONDO:Lexical, OMIM:600193]
xref: DOID:0110947 {source="MONDO:equivalentTo"}
xref: GARD:0005522 {source="MONDO:equivalentTo"}
xref: MESH:C536465 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600193 {source="DOID:0110947", source="MONDO:equivalentTo"}
xref: UMLS:C1838447 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600193"}
is_a: MONDO:0019517 {source="MONDO:cjm", source="MONDOLEX:0010841"} ! Waardenburg syndrome type 2
property_value: exactMatch DOID:0110947
property_value: exactMatch http://identifiers.org/mesh/C536465
property_value: exactMatch http://identifiers.org/omim/600193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b xsd:anyURI {source="GARD:0005522"}

[Term]
id: MONDO:0010842
name: multiple cutaneous and mucosal venous malformations
def: "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." [Orphanet:2451]
subset: ordo_malformation_syndrome {source="Orphanet:2451"}
synonym: "cutaneous and mucosal venous malformation" EXACT [Orphanet:2451]
synonym: "mucocutaneous venous malformations" RELATED [Orphanet:2451]
synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:Lexical, OMIM:600195]
synonym: "VENOUS malformations, multiple cutaneous and mucosal; VMCM" RELATED [OMIM:600195]
synonym: "VMCM" EXACT [MONDO:Lexical, OMIM:600195, Orphanet:2451]
synonym: "Vmcm1" RELATED [OMIM:600195]
xref: DOID:0050792 {source="MONDO:equivalentTo"}
xref: ICD10:Q27.8 {source="Orphanet:2451", source="ORDO:2451/attributed", source="ORDO:2451/ntbt"}
xref: MESH:C563977 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="ORDO:2451/e"}
xref: Orphanet:2451 {source="MONDO:equivalentTo", source="OMIM:600195"}
xref: SCTID:699301008 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0050792", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0018730 {source="MONDO:Redundant", source="Orphanet:2451"} ! rare genetic venous malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838437
property_value: exactMatch DOID:0050792
property_value: exactMatch http://identifiers.org/mesh/C563977
property_value: exactMatch http://identifiers.org/omim/600195
property_value: exactMatch http://identifiers.org/snomedct/699301008
property_value: exactMatch Orphanet:2451

[Term]
id: MONDO:0010843
name: dyslexia, susceptibility to, 2
subset: predisposition
synonym: "dyslexia, susceptibility to, 2" RELATED [OMIM:600202]
synonym: "dyslexia, susceptibility to, 2; DYX2" RELATED [OMIM:600202]
synonym: "DYX2" EXACT [MONDO:Lexical, OMIM:600202]
synonym: "reading disability, specific, 2" RELATED [OMIM:600202]
xref: OMIM:600202 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:600202"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838436
property_value: exactMatch http://identifiers.org/omim/600202

[Term]
id: MONDO:0010844
name: epiphyseal dysplasia, multiple, 2
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009791"}
synonym: "COL9A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM2" RELATED [MONDO:Lexical, OMIM:600204]
synonym: "epiphyseal dysplasia multiple 2" RELATED [GARD:0009791]
synonym: "epiphyseal dysplasia, multiple, 2" EXACT [MONDO:Lexical, OMIM:600204]
synonym: "epiphyseal dysplasia, multiple, 2; EDM2" RELATED [OMIM:600204]
synonym: "epiphyseal dysplasia, multiple, type 2" EXACT [MONDORULE:1, OMIM:600204]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2" EXACT []
synonym: "multiple epiphyseal dysplasia 2" RELATED [GARD:0009791]
xref: DOID:0070298 {source="MONDO:equivalentTo"}
xref: GARD:0009791 {source="MONDO:equivalentTo"}
xref: MESH:C535502 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600204 {source="MONDO:equivalentTo"}
xref: UMLS:C1838429 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600204"}
is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
property_value: exactMatch DOID:0070298
property_value: exactMatch http://identifiers.org/mesh/C535502
property_value: exactMatch http://identifiers.org/omim/600204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838429
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2 xsd:anyURI {source="GARD:0009791"}

[Term]
id: MONDO:0010845
name: obsolete macrothrombocytopenia and progressive sensorineural deafness
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0010846
name: EXT3
subset: gard_rare
synonym: "exostoses, multiple, type 3" RELATED [GARD:0002206]
synonym: "exostoses, multiple, type III" RELATED [MONDO:Lexical, OMIM:600209]
synonym: "exostoses, multiple, type III; EXT3" RELATED [OMIM:600209]
synonym: "EXT3" EXACT [MONDO:Lexical, OMIM:600209]
xref: GARD:0002206 {source="MONDO:equivalentTo"}
xref: MESH:C563975 {source="MONDO:equivalentTo"}
xref: OMIM:600209 {source="MONDO:equivalentTo"}
xref: UMLS:C1838420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600209"}
is_a: MONDO:0005508 {source="DC-OMIM:600209"} ! hereditary multiple osteochondromas
property_value: exactMatch http://identifiers.org/mesh/C563975
property_value: exactMatch http://identifiers.org/omim/600209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838420

[Term]
id: MONDO:0010847
name: spinocerebellar ataxia type 4
def: "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." [Orphanet:98765]
subset: ordo_disease {source="Orphanet:98765"}
synonym: "SCA4" EXACT [MONDO:Lexical, OMIM:600223, Orphanet:98765]
synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical, OMIM:600223]
synonym: "spinocerebellar ataxia 4; SCA4" RELATED [OMIM:600223]
synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" RELATED [GARD:0009970]
synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223]
xref: DOID:0050957 {source="MONDO:equivalentTo"}
xref: GARD:0009970 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98765", source="ORDO:98765/attributed", source="ORDO:98765/ntbt"}
xref: OMIM:600223 {source="ORDO:98765/e", source="Orphanet:98765", source="MONDO:equivalentTo"}
xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"}
xref: SCTID:715755008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752122 {source="ORDO:98765/e", source="Orphanet:98765", source="NCBI:mim2gene_medline", source="OMIM:600223", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98765"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050957
property_value: exactMatch http://identifiers.org/omim/600223
property_value: exactMatch http://identifiers.org/snomedct/715755008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752122
property_value: exactMatch Orphanet:98765

[Term]
id: MONDO:0010848
name: spinocerebellar ataxia type 5
def: "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." [Orphanet:98766]
subset: ordo_disease {source="Orphanet:98766"}
synonym: "SCA5" EXACT [MONDO:Lexical, OMIM:600224, Orphanet:98766]
synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224]
synonym: "spinocerebellar ataxia 5; SCA5" RELATED [OMIM:600224]
synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224]
xref: DOID:0050882 {source="MONDO:equivalentTo"}
xref: GARD:0004953 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98766", source="ORDO:98766/attributed", source="ORDO:98766/ntbt"}
xref: OMIM:600224 {source="ORDO:98766/e", source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo"}
xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"}
xref: SCTID:719302009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0752123 {source="OMIM:600224", source="NCBI:mim2gene_medline", source="Orphanet:98766", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="Orphanet:98766"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050882
property_value: exactMatch http://identifiers.org/omim/600224
property_value: exactMatch http://identifiers.org/snomedct/719302009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752123
property_value: exactMatch Orphanet:98766

[Term]
id: MONDO:0010849
name: palmoplantar keratoderma, Bothnian type
synonym: "palmoplantar keratoderma, Bothnian type" EXACT [MONDO:Lexical, OMIM:600231]
synonym: "palmoplantar keratoderma, Bothnian type; PPKB" RELATED [OMIM:600231]
synonym: "PPKB" RELATED [MONDO:Lexical, OMIM:600231]
xref: GARD:0001862 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600231 {source="MONDO:equivalentTo"}
is_a: MONDO:0006588 {source="DC-OMIM:600231"} ! nonepidermolytic palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838359
property_value: exactMatch http://identifiers.org/omim/600231

[Term]
id: MONDO:0010850
name: Tessier number 4 facial cleft
subset: ordo_morphological_anomaly {source="Orphanet:141258"}
synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251]
synonym: "facial clefting, oblique, 1; OBLFC1" RELATED [OMIM:600251]
synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251]
synonym: "OBLFC1" RELATED [MONDO:Lexical, OMIM:600251]
synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251]
xref: ICD10:Q18.8 {source="ORDO:141258/attributed", source="ORDO:141258/ntbt", source="Orphanet:141258"}
xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="ORDO:141258/e"}
xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"}
is_a: MONDO:0015415 {source="MONDOLEX:0010850", source="Orphanet:141258"} ! oblique facial cleft
is_a: MONDO:0015824 ! oculomaxillofacial dysostosis
property_value: exactMatch http://identifiers.org/omim/600251
property_value: exactMatch Orphanet:141258

[Term]
id: MONDO:0010851
name: Lowry-MacLean syndrome
def: "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." [Orphanet:2409]
subset: ordo_malformation_syndrome {source="Orphanet:2409"}
synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300]
synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252]
synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED [GARD:0003300]
xref: GARD:0003300 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2409", source="ORDO:2409/attributed", source="ORDO:2409/ntbt"}
xref: MESH:C537037 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2409", source="ORDO:2409/e"}
xref: OMIM:600252 {source="MONDO:equivalentTo", source="Orphanet:2409", source="ORDO:2409/e"}
xref: Orphanet:2409 {source="OMIM:600252", source="MONDO:equivalentTo"}
xref: SCTID:721974000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0796020 {source="OMIM:600252", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2409", source="ORDO:2409/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2409", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:2409"} ! syndromic developmental defect of the eye
is_a: MONDO:0015338 {source="Orphanet:2409"} ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020222 {source="Orphanet:2409"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537037
property_value: exactMatch http://identifiers.org/omim/600252
property_value: exactMatch http://identifiers.org/snomedct/721974000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796020
property_value: exactMatch Orphanet:2409

[Term]
id: MONDO:0010852
name: chromosome 8Q12.1-q21.2 deletion syndrome
synonym: "bor-Duane hydrocephalus contiguous Gene syndrome" RELATED [OMIM:600257]
synonym: "Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome" RELATED [GARD:0010002]
synonym: "chromosome 8Q12.1-q21.2 deletion syndrome" EXACT [OMIM:600257]
xref: GARD:0010002 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536574 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600257 {source="MONDO:equivalentTo"}
xref: UMLS:C1838346 {source="OMIM:600257", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:600257"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch http://identifiers.org/mesh/C536574
property_value: exactMatch http://identifiers.org/omim/600257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838346

[Term]
id: MONDO:0010853
name: Helicobacter pylori infection, susceptibility to
subset: predisposition
synonym: "Helicobacter pylori infection, susceptibility to" EXACT [OMIM:600263]
xref: OMIM:600263 {source="MONDO:equivalentTo"}
xref: UMLS:C1838332 {source="OMIM:600263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/600263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838332

[Term]
id: MONDO:0010854
name: Toriello-Lacassie-Droste syndrome
def: "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." [Orphanet:3339]
subset: ordo_malformation_syndrome {source="Orphanet:3339"}
synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [OMIM:600268]
synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [Orphanet:3339]
synonym: "oculo-ectodermal syndrome" RELATED [GARD:0010366]
synonym: "oculoectodermal syndrome" EXACT [MONDO:Lexical, OMIM:600268, Orphanet:3339]
synonym: "oculoectodermal syndrome; oes" RELATED [OMIM:600268]
synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268]
synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366]
xref: GARD:0010366 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C563969 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600268 {source="MONDO:equivalentTo", source="ORDO:3339/e", source="Orphanet:3339"}
xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"}
xref: SCTID:723554006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838329 {source="OMIM:600268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3339", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019287 {source="MESH:C563969", source="Orphanet:3339"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C563969
property_value: exactMatch http://identifiers.org/omim/600268
property_value: exactMatch http://identifiers.org/snomedct/723554006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838329
property_value: exactMatch Orphanet:3339

[Term]
id: MONDO:0010855
name: short tarsus-absence of lower eyelashes syndrome
def: "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." [Orphanet:2832]
subset: ordo_malformation_syndrome {source="Orphanet:2832"}
synonym: "Lopes Gorlin syndrome" RELATED [GARD:0000296]
synonym: "Lopes-Gorlin syndrome" EXACT [Orphanet:2832]
synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296]
synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269]
synonym: "short tarsus with absence of LOWER eyelashes; stale" RELATED [OMIM:600269]
synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269]
xref: GARD:0000296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.2 {source="ORDO:2832/attributed", source="ORDO:2832/ntbt", source="Orphanet:2832"}
xref: MESH:C537036 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="ORDO:2832/e"}
xref: Orphanet:2832 {source="MONDO:equivalentTo", source="OMIM:600269"}
xref: SCTID:721075001 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C1838328 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2832", source="OMIM:600269"}
is_a: MONDO:0043008 {source="Orphanet:2832"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537036
property_value: exactMatch http://identifiers.org/omim/600269
property_value: exactMatch http://identifiers.org/snomedct/721075001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838328
property_value: exactMatch Orphanet:2832

[Term]
id: MONDO:0010856
name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
def: "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." [Orphanet:88924]
subset: ordo_disease {source="Orphanet:88924"}
synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [OMIM:600273]
synonym: "PKDTS" RELATED [MONDO:Lexical, OMIM:600273]
synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" RELATED [MONDO:Lexical, OMIM:600273]
synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis; PKDTS" RELATED [OMIM:600273]
synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED [GARD:0009481]
synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481]
synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924]
xref: GARD:0009481 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536328 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600273 {source="ORDO:88924/e", source="MONDO:equivalentTo", source="Orphanet:88924"}
xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"}
xref: SCTID:765331004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838327 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88924", source="MEDGEN:kboom-pr92-c96", source="OMIM:600273"}
is_a: MONDO:0016894 {source="Orphanet:88924"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019741 {source="Orphanet:88924", source="Orphanet:88924/inferred"} ! familial cystic renal disease
property_value: exactMatch http://identifiers.org/mesh/C536328
property_value: exactMatch http://identifiers.org/omim/600273
property_value: exactMatch http://identifiers.org/snomedct/765331004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838327
property_value: exactMatch Orphanet:88924

[Term]
id: MONDO:0010857
name: semantic dementia
def: "Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." [Orphanet:100069]
subset: ordo_disease {source="Orphanet:100069"}
synonym: "dementia, frontotemporal, with Parkinsonism" RELATED [OMIM:600274]
synonym: "disinhibition-dementia-Parkinsonism-amyotrophy Complex" RELATED [OMIM:600274]
synonym: "frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:600274]
synonym: "frontotemporal dementia with Parkinsonism" RELATED [OMIM:600274]
synonym: "frontotemporal dementia; FTD" RELATED [OMIM:600274]
synonym: "frontotemporal lobar Degeneration with Tau inclusions" RELATED [OMIM:600274]
synonym: "frontotemporal lobe dementia" RELATED [OMIM:600274]
synonym: "FTD" RELATED [MONDO:Lexical, OMIM:600274]
synonym: "Ftdp17" RELATED [OMIM:600274]
synonym: "Ftld with Tau inclusions" RELATED [OMIM:600274]
synonym: "multiple system tauopathy with presenile dementia" RELATED [OMIM:600274]
synonym: "Pallidopontonigral Degeneration" RELATED [OMIM:600274]
synonym: "Pick Complex" RELATED [OMIM:600274]
synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069]
synonym: "semantic variant PPA" EXACT [Orphanet:100069]
synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274]
xref: GARD:0010792 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G31.0 {source="Orphanet:100069", source="ORDO:100069/attributed", source="ORDO:100069/ntbt"}
xref: OMIM:600274 {source="Orphanet:100069", source="MONDO:equivalentTo"}
xref: Orphanet:100069 {source="MONDO:equivalentTo"}
is_a: MONDO:0015059 ! progressive non-fluent aphasia
is_a: MONDO:0017160 ! behavioral variant of frontotemporal dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838313
property_value: exactMatch http://identifiers.org/omim/600274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338462
property_value: exactMatch Orphanet:100069

[Term]
id: MONDO:0010858
name: macrocephaly-spastic paraplegia-dysmorphism syndrome
def: "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." [Orphanet:2429]
subset: ordo_malformation_syndrome {source="Orphanet:2429"}
synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429]
synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302]
xref: ICD10:Q87.8 {source="ORDO:2429/attributed", source="ORDO:2429/ntbt", source="Orphanet:2429"}
xref: MESH:C563963 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600302 {source="MONDO:equivalentTo", source="Orphanet:2429", source="ORDO:2429/e"}
xref: Orphanet:2429 {source="MONDO:equivalentTo", source="OMIM:600302"}
xref: SCTID:716108004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1838281 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600302", source="Orphanet:2429"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2429", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015150 ! complex hereditary spastic paraplegia
is_a: MONDO:0015159 {source="Orphanet:2429"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017915 {source="Orphanet:2429"} ! pure or complex autosomal recessive spastic paraplegia
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C563963
property_value: exactMatch http://identifiers.org/omim/600302
property_value: exactMatch http://identifiers.org/snomedct/716108004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838281
property_value: exactMatch Orphanet:2429

[Term]
id: MONDO:0010859
name: atrioventricular septal defect 3
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrioventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:600309]
synonym: "atrioventricular septal defect 3; AVSD3" RELATED [OMIM:600309]
synonym: "atrioventricular septal defect caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:600309]
synonym: "AVSD3" RELATED [MONDO:Lexical, OMIM:600309]
synonym: "GJA1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:600309 {source="MONDO:equivalentTo"}
xref: UMLS:C3275750 {source="MONDO:equivalentTo", source="OMIM:600309"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020290 {source="DC-OMIM:600309", source="MONDO:Redundant", source="MONDOLEX:0010859", source="OMIM:600309"} ! atrioventricular septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344783
property_value: exactMatch http://identifiers.org/omim/600309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275750

[Term]
id: MONDO:0010860
name: autosomal recessive nonsyndromic deafness 3
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT [DOID:0110488]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 3" EXACT [DOID:0110488, MONDORULE:1]
synonym: "deafness, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:600316]
synonym: "deafness, autosomal recessive 3; DFNB3" RELATED [OMIM:600316]
synonym: "deafness, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:600316]
synonym: "DFNB3" EXACT [DOID:0110488, MONDO:Lexical, OMIM:600316]
synonym: "MYO15A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic recessive deafness 3" RELATED [OMIM:600316]
synonym: "NRSD3" EXACT [DOID:0110488]
xref: DOID:0110488 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110488"}
xref: MESH:C563961 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600316 {source="MONDO:equivalentTo", source="DOID:0110488"}
xref: UMLS:C1838263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600316"}
is_a: MONDO:0019588 {source="DC-OMIM:600316", source="DOID:0110488", source="MONDO:Redundant", source="OMIM:600316"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110488
property_value: exactMatch http://identifiers.org/mesh/C563961
property_value: exactMatch http://identifiers.org/omim/600316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838263

[Term]
id: MONDO:0010861
name: type 1 diabetes mellitus 3
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26." [DOID:0110742, PMID:7842018]
synonym: "diabetes mellitus, insulin-dependent, 3" RELATED [MONDO:Lexical, OMIM:600318]
synonym: "diabetes mellitus, insulin-dependent, 3; IDDM3" RELATED [OMIM:600318]
synonym: "IDDM3" EXACT [DOID:0110742, MONDO:Lexical, OMIM:600318]
synonym: "insulin-dependent diabetes mellitus 3" EXACT [DOID:0110742, OMIM:600318]
xref: DOID:0110742 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110742"}
xref: MESH:C563960 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600318 {source="DOID:0110742", source="MONDO:equivalentTo"}
xref: UMLS:C1838262 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600318"}
is_a: MONDO:0005147 {source="DC-OMIM:600318", source="DOID:0110742", source="MESH:C563960", source="MONDOLEX:0010861"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110742
property_value: exactMatch http://identifiers.org/mesh/C563960
property_value: exactMatch http://identifiers.org/omim/600318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838262

[Term]
id: MONDO:0010862
name: type 1 diabetes mellitus 4
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13." [DOID:0110743, PMID:9683605]
synonym: "diabetes mellitus, insulin-dependent, 4" RELATED [MONDO:Lexical, OMIM:600319]
synonym: "diabetes mellitus, insulin-dependent, 4; IDDM4" RELATED [OMIM:600319]
synonym: "IDDM4" EXACT [DOID:0110743, MONDO:Lexical, OMIM:600319]
synonym: "insulin-dependent diabetes mellitus 4" EXACT [DOID:0110743, OMIM:600319]
xref: DOID:0110743 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110743"}
xref: MESH:C563959 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600319 {source="DOID:0110743", source="MONDO:equivalentTo"}
xref: UMLS:C1838261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600319"}
is_a: MONDO:0005147 {source="DC-OMIM:600319", source="DOID:0110743", source="MESH:C563959", source="MONDOLEX:0010862"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110743
property_value: exactMatch http://identifiers.org/mesh/C563959
property_value: exactMatch http://identifiers.org/omim/600319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838261

[Term]
id: MONDO:0010863
name: type 1 diabetes mellitus 5
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 5" RELATED [MONDO:Lexical, OMIM:600320]
synonym: "diabetes mellitus, insulin-dependent, 5; IDDM5" RELATED [OMIM:600320]
synonym: "diabetes mellitus, insulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:600320]
synonym: "IDDM5" EXACT [DOID:0110744, MONDO:Lexical, OMIM:600320]
synonym: "insulin-dependent diabetes mellitus 5" EXACT [DOID:0110744, OMIM:600320]
synonym: "SUMO4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 1 diabetes mellitus caused by mutation in SUMO4" EXACT [MONDO:design_pattern]
xref: DOID:0110744 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110744"}
xref: MESH:C563958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600320 {source="DOID:0110744", source="MONDO:equivalentTo"}
xref: UMLS:C1838260 {source="OMIM:600320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:600320", source="DOID:0110744", source="MESH:C563958", source="MONDO:Redundant", source="MONDOLEX:0010863"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110744
property_value: exactMatch http://identifiers.org/mesh/C563958
property_value: exactMatch http://identifiers.org/omim/600320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838260

[Term]
id: MONDO:0010864
name: type 1 diabetes mellitus 7
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31." [DOID:0110746, PMID:7704030]
synonym: "diabetes mellitus, insulin-dependent, 7" RELATED [MONDO:Lexical, OMIM:600321]
synonym: "diabetes mellitus, insulin-dependent, 7; IDDM7" RELATED [OMIM:600321]
synonym: "IDDM7" EXACT [DOID:0110746, MONDO:Lexical, OMIM:600321]
synonym: "insulin-dependent diabetes mellitus 7" EXACT [DOID:0110746, OMIM:600321]
xref: DOID:0110746 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110746"}
xref: MESH:C563957 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600321 {source="DOID:0110746", source="MONDO:equivalentTo"}
xref: UMLS:C1838259 {source="OMIM:600321", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:600321", source="DOID:0110746", source="MESH:C563957", source="MONDOLEX:0010864"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110746
property_value: exactMatch http://identifiers.org/mesh/C563957
property_value: exactMatch http://identifiers.org/omim/600321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838259

[Term]
id: MONDO:0010865
name: pseudoaminopterin syndrome
def: "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." [Orphanet:221120]
subset: gard_rare {source="GARD:0004544"}
subset: ordo_malformation_syndrome {source="Orphanet:221120"}
synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical, OMIM:600325]
synonym: "aminopterin syndrome sine aminopterin; ASSA" RELATED [OMIM:600325]
synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120]
synonym: "ASSA" EXACT [MONDO:Lexical, OMIM:600325, Orphanet:221120]
synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325]
xref: GARD:0004544 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="ORDO:221120/attributed", source="ORDO:221120/ntbt"}
xref: MESH:C535823 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="ORDO:221120/e"}
xref: Orphanet:221120 {source="MONDO:equivalentTo", source="OMIM:600325"}
xref: SCTID:715867000 {source="MONDO:kboom-pr-1.00/0.79/8.11", source="MONDO:equivalentTo"}
xref: UMLS:C0795939 {source="Orphanet:221120", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600325"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221120", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:221120"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:221120"} ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C535823
property_value: exactMatch http://identifiers.org/omim/600325
property_value: exactMatch http://identifiers.org/snomedct/715867000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795939
property_value: exactMatch Orphanet:221120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome xsd:anyURI {source="GARD:0004544"}

[Term]
id: MONDO:0010866
name: infantile osteopetrosis with neuroaxonal dysplasia
def: "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." [Orphanet:85179]
subset: ordo_malformation_syndrome {source="Orphanet:85179"}
synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329]
xref: GARD:0010082 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.2 {source="Orphanet:85179", source="ORDO:85179/attributed", source="ORDO:85179/ntbt"}
xref: MESH:C536055 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="ORDO:85179/e"}
xref: Orphanet:85179 {source="MONDO:equivalentTo", source="OMIM:600329"}
xref: SCTID:724226009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838258 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:85179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600329"}
is_a: MONDO:0017198 {source="MONDOLEX:0010866", source="Orphanet:85179"} ! osteopetrosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C536055
property_value: exactMatch http://identifiers.org/omim/600329
property_value: exactMatch http://identifiers.org/snomedct/724226009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838258
property_value: exactMatch Orphanet:85179

[Term]
id: MONDO:0010867
name: PARC syndrome
def: "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." [Orphanet:2825]
subset: gard_rare {source="GARD:0004223"}
subset: ordo_malformation_syndrome {source="Orphanet:2825"}
synonym: "PARC syndrome" EXACT [OMIM:600331]
synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331]
synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825]
xref: GARD:0004223 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2825/attributed", source="ORDO:2825/ntbt", source="Orphanet:2825"}
xref: MESH:C537174 {source="MONDO:equivalentTo", source="Orphanet:2825", source="MONDO:ontobio", source="ORDO:2825/e"}
xref: OMIM:600331 {source="MONDO:equivalentTo", source="Orphanet:2825", source="ORDO:2825/e"}
xref: Orphanet:2825 {source="OMIM:600331", source="MONDO:equivalentTo"}
xref: UMLS:C1838256 {source="OMIM:600331", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2825", source="MEDGEN:kboom-pr92-c96", source="ORDO:2825/e"}
is_a: MONDO:0015335 {source="Orphanet:2825"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2825"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537174
property_value: exactMatch http://identifiers.org/omim/600331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838256
property_value: exactMatch Orphanet:2825
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome xsd:anyURI {source="GARD:0004223"}

[Term]
id: MONDO:0010868
name: rippling muscle disease 1
synonym: "rippling muscle disease 1" RELATED [MONDO:Lexical, OMIM:600332]
synonym: "rippling muscle disease 1; RMD1" RELATED [OMIM:600332]
synonym: "rippling muscle disease, 1" RELATED [GARD:0009165]
synonym: "RMD1" EXACT [MONDO:Lexical, OMIM:600332]
xref: DOID:0070308 {source="MONDO:equivalentTo"}
xref: GARD:0009165 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600332 {source="MONDO:equivalentTo"}
is_a: MONDO:0020704 {source="MONDO:cjm"} ! inherited rippling muscle disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838254
property_value: exactMatch DOID:0070308
property_value: exactMatch http://identifiers.org/omim/600332

[Term]
id: MONDO:0010869
name: motor neuron disease with dementia and ophthalmoplegia
synonym: "motor neuron disease with dementia and ophthalmoplegia" EXACT [OMIM:600333]
xref: MESH:C563954 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600333 {source="MONDO:equivalentTo"}
xref: UMLS:C1838253 {source="NCBI:mim2gene_medline", source="OMIM:600333", source="MONDO:equivalentTo"}
is_a: MONDO:0024257 ! hereditary motor neuron disease
relationship: disease_has_feature MONDO:0001627 {source="MESH:C563954"} ! dementia (disease)
relationship: disease_has_feature MONDO:0003425 {source="MESH:C563954"} ! ophthalmoplegia
property_value: exactMatch http://identifiers.org/mesh/C563954
property_value: exactMatch http://identifiers.org/omim/600333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838253

[Term]
id: MONDO:0010870
name: tibial muscular dystrophy
def: "Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." [Orphanet:609]
subset: ordo_disease {source="Orphanet:609"}
synonym: "distal myopathy, Udd type" EXACT [Orphanet:609]
synonym: "distal titinopathy" EXACT [DOID:0111078, Orphanet:609]
synonym: "Finnish tibial muscular dystrophy" EXACT [DOID:0111078, Orphanet:609]
synonym: "tardive tibial muscular dystrophy" EXACT [DOID:0111078, OMIM:600334]
synonym: "tibial muscular dystrophy, tardive" RELATED [OMIM:600334]
synonym: "tibial muscular dystrophy, tardive; TMD" RELATED [OMIM:600334]
synonym: "TMD" EXACT [DOID:0111078, Orphanet:609]
synonym: "Tmd" RELATED [OMIM:600334]
synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609]
synonym: "Udd type distal myopathy" EXACT [DOID:0111078]
xref: DOID:0111078 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:609/attributed", source="ORDO:609/ntbt", source="DOID:0111078", source="Orphanet:609"}
xref: OMIM:600334 {source="MONDO:equivalentTo", source="ORDO:609/e", source="DOID:0111078", source="Orphanet:609"}
xref: Orphanet:609 {source="OMIM:600334", source="MONDO:equivalentTo", source="DOID:0111078"}
xref: SCTID:698846009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1450052 {source="MONDO:equivalentTo", source="Orphanet:609"}
xref: UMLS:C1838244 {source="MEDGEN:kboom-pr97-c98", source="OMIM:600334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:609/e", source="DOID:0111078", source="Orphanet:609"}
is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy
is_a: MONDO:0016191 {source="Orphanet:609"} ! qualitative or quantitative defects of titin
property_value: exactMatch DOID:0111078
property_value: exactMatch http://identifiers.org/mesh/C536815
property_value: exactMatch http://identifiers.org/omim/600334
property_value: exactMatch http://identifiers.org/snomedct/698846009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1450052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838244
property_value: exactMatch Orphanet:609

[Term]
id: MONDO:0010871
name: succinic acidemia
synonym: "succinic acidemia" EXACT [OMIM:600335]
xref: MESH:C563952 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600335 {source="MONDO:equivalentTo"}
xref: Orphanet:936 {source="MONDO:equivalentObsolete", source="OMIM:600335"}
xref: UMLS:C1838243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600335"}
is_a: MONDO:0003847 {source="MESH:C563952/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563952
property_value: exactMatch http://identifiers.org/omim/600335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838243
property_value: exactMatch Orphanet:936

[Term]
id: MONDO:0010872
name: PDDP
synonym: "parotid salivary glands, polycystic dysgenetic disease OF" RELATED [MONDO:Lexical, OMIM:600343]
synonym: "parotid salivary glands, polycystic dysgenetic disease OF; PDDP" RELATED [OMIM:600343]
synonym: "PDDP" EXACT [MONDO:Lexical, OMIM:600343]
xref: OMIM:600343 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MONDOLEX:0010872"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838240
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551133
property_value: exactMatch http://identifiers.org/omim/600343

[Term]
id: MONDO:0010873
name: band heterotopia of brain
comment: Editor check: TODO
synonym: "band heterotopia of brain" EXACT [OMIM:600348]
synonym: "band heterotopia; BH" RELATED [OMIM:600348]
synonym: "BH" RELATED [OMIM:600348]
xref: MESH:C563950 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600348 {source="MONDO:equivalentTo"}
xref: UMLS:C1838239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600348"}
is_a: MONDO:0020491 {source="MONDOLEX:0010873", source="ORDO:99796/btnt"} ! subcortical band heterotopia
property_value: exactMatch http://identifiers.org/mesh/C563950
property_value: exactMatch http://identifiers.org/omim/600348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838239

[Term]
id: MONDO:0010874
name: enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
synonym: "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency" EXACT [OMIM:600351]
xref: MESH:C563949 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600351 {source="MONDO:equivalentTo"}
xref: UMLS:C1838238 {source="OMIM:600351", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563949
property_value: exactMatch http://identifiers.org/omim/600351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838238

[Term]
id: MONDO:0010875
name: pachydermodactyly, familial
synonym: "pachydermodactyly, familial" EXACT [OMIM:600356]
xref: MESH:C563947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600356 {source="MONDO:equivalentTo"}
xref: UMLS:C1838218 {source="OMIM:600356", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563947
property_value: exactMatch http://identifiers.org/omim/600356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838218

[Term]
id: MONDO:0010876
name: recessive aplasia cutis congenita of limbs
def: "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC; see this term) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa (see this term). The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." [Orphanet:1115]
subset: gard_rare {source="GARD:0000754"}
subset: ordo_disease {source="Orphanet:1115"}
synonym: "aplasia cutis congenita of limbs recessive" RELATED [GARD:0000754]
synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:600360]
synonym: "congenital absence of skin on the upper or lower limbs" RELATED [GARD:0000754]
synonym: "recessive aplasia cutis congenita of the limbs" RELATED [GARD:0000754]
xref: GARD:0000754 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.8 {source="ORDO:1115/attributed", source="ORDO:1115/ntbt", source="Orphanet:1115"}
xref: MESH:C536840 {source="ORDO:1115/e", source="MONDO:equivalentTo", source="Orphanet:1115", source="MONDO:ontobio"}
xref: OMIM:600360 {source="ORDO:1115/e", source="MONDO:equivalentTo", source="Orphanet:1115"}
xref: Orphanet:1115 {source="MONDO:equivalentTo", source="OMIM:600360"}
xref: SCTID:723500009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838206 {source="ORDO:1115/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1115"}
is_a: MONDO:0019294 {source="Orphanet:1115"} ! mixed dermis disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275756
property_value: exactMatch http://identifiers.org/mesh/C536840
property_value: exactMatch http://identifiers.org/omim/600360
property_value: exactMatch http://identifiers.org/snomedct/723500009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838206
property_value: exactMatch Orphanet:1115
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive xsd:anyURI {source="GARD:0000754"}

[Term]
id: MONDO:0010877
name: Charcot-Marie-Tooth disease type 5
def: "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." [Orphanet:64751]
subset: ordo_disease {source="Orphanet:64751"}
synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
synonym: "Charcot-Marie-Tooth disease-pyramidal features syndrome" EXACT [Orphanet:64751]
synonym: "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
synonym: "CMT with pyramidal features" RELATED [OMIM:600361]
synonym: "hereditary motor and sensory neuropathy 5" RELATED [GARD:0009208, OMIM:600361]
synonym: "hereditary motor and sensory neuropathy type 5" EXACT [MONDORULE:1, OMIM:600361]
synonym: "hereditary motor and sensory neuropathy V" RELATED [OMIM:600361]
synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [DOID:0080067]
synonym: "HMSN 5" EXACT [OMIM:600361, Orphanet:64751]
synonym: "HMSN5" RELATED [OMIM:600361]
synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
xref: DOID:0080067 {source="MONDO:equivalentTo"}
xref: GARD:0009208 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:64751", source="ORDO:64751/attributed", source="ORDO:64751/ntbt"}
xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="ORDO:64751/e"}
xref: Orphanet:64751 {source="MONDO:equivalentTo", source="OMIM:600361"}
xref: SCTID:76043009 {source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
xref: UMLS:CN074211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002316 {source="DC-OMIM:600361", source="MONDOLEX:0010877", source="linkedlifedata"} ! motor peripheral neuropathy
is_a: MONDO:0015360 {source="Orphanet:64751"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
is_a: MONDO:0019064 {source="linkedlifedata"} ! hereditary spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751602
property_value: exactMatch DOID:0080067
property_value: exactMatch http://identifiers.org/omim/600361
property_value: exactMatch http://identifiers.org/snomedct/76043009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074211
property_value: exactMatch Orphanet:64751

[Term]
id: MONDO:0010878
name: hereditary spastic paraplegia 6
def: "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." [Orphanet:100988]
subset: ordo_disease {source="Orphanet:100988"}
synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811, Orphanet:100988]
synonym: "autosomal dominant spastic paraplegia 6" EXACT [DOID:0110811]
synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811]
synonym: "familial spastic paraplegia autosomal dominant 3" RELATED [GARD:0004928]
synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [OMIM:600363]
synonym: "FSP3" EXACT [DOID:0110811]
synonym: "hereditary spastic paraplegia caused by mutation in NIPA1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 6" EXACT [DOID:0110811, MONDORULE:1]
synonym: "NIPA1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 6" RELATED [GARD:0004928]
synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363]
synonym: "spastic paraplegia 6, autosomal dominant; SPG6" RELATED [OMIM:600363]
synonym: "SPG6" EXACT [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988]
xref: DOID:0110811 {source="MONDO:equivalentTo"}
xref: GARD:0004928 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110811", source="ORDO:100988/attributed", source="ORDO:100988/ntbt", source="Orphanet:100988"}
xref: MESH:C536866 {source="MONDO:equivalentTo", source="ORDO:100988/e", source="MONDO:ontobio", source="Orphanet:100988"}
xref: OMIM:600363 {source="DOID:0110811", source="MONDO:equivalentTo", source="ORDO:100988/e", source="Orphanet:100988"}
xref: Orphanet:100988 {source="OMIM:600363", source="DOID:0110811", source="MONDO:equivalentTo"}
xref: SCTID:732949006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838192 {source="OMIM:600363", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100988/e", source="Orphanet:100988"}
xref: UMLS:C4518537 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017914 {source="Orphanet:100988"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110811
property_value: exactMatch http://identifiers.org/mesh/C536866
property_value: exactMatch http://identifiers.org/omim/600363
property_value: exactMatch http://identifiers.org/snomedct/732949006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518537
property_value: exactMatch Orphanet:100988

[Term]
id: MONDO:0010879
name: CODAS syndrome
def: "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." [Orphanet:1458]
subset: gard_rare {source="GARD:0001418"}
subset: ordo_malformation_syndrome {source="Orphanet:1458"}
synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [OMIM:600373]
synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" RELATED [GARD:0001418]
synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" RELATED [GARD:0001418]
synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458]
synonym: "CODAS syndrome" EXACT [OMIM:600373]
xref: GARD:0001418 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1458/attributed", source="ORDO:1458/ntbt", source="Orphanet:1458"}
xref: MESH:C536434 {source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458", source="MONDO:ontobio"}
xref: NCIT:C126744 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:600373 {source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458"}
xref: Orphanet:1458 {source="OMIM:600373", source="MONDO:equivalentTo"}
xref: SCTID:717772000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
xref: UMLS:C1838180 {source="OMIM:600373", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458", source="NCIT:C126744"}
is_a: MONDO:0002254 {source="MONDOLEX:0010879", source="NCIT:C126744"} ! syndromic disease
is_a: MONDO:0016761 {source="Orphanet:1458"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:1458"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536434
property_value: exactMatch http://identifiers.org/omim/600373
property_value: exactMatch http://identifiers.org/snomedct/717772000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838180
property_value: exactMatch NCIT:C126744
property_value: exactMatch Orphanet:1458
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome xsd:anyURI {source="GARD:0001418"}

[Term]
id: MONDO:0010880
name: telangiectasia, hereditary hemorrhagic, type 2
def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009901"}
synonym: "ACVRL1 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1" EXACT [MONDO:design_pattern]
synonym: "hereditary hemorrhagic telangiectasia type 2" RELATED [GARD:0009901]
synonym: "HHT2" RELATED [MONDO:Lexical, OMIM:600376]
synonym: "ORW2" RELATED [GARD:0009901]
synonym: "Osler Weber Rendu syndrome type 2" RELATED [GARD:0009901]
synonym: "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related" RELATED [OMIM:600376]
synonym: "telangiectasia hereditary hemorrhagic type 2" RELATED [GARD:0009901]
synonym: "telangiectasia, hereditary hemorrhagic, type 2" EXACT [MONDO:Lexical, OMIM:600376]
synonym: "telangiectasia, hereditary hemorrhagic, type 2; HHT2" RELATED [OMIM:600376]
xref: GARD:0009901 {source="MONDO:equivalentTo"}
xref: OMIM:600376 {source="MONDO:equivalentTo"}
is_a: MONDO:0019180 {source="DC-OMIM:600376", source="MONDO:Redundant", source="MONDOLEX:0010880", source="OMIM:600376"} ! hereditary hemorrhagic telangiectasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838163
property_value: exactMatch http://identifiers.org/omim/600376
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2 xsd:anyURI {source="GARD:0009901"}

[Term]
id: MONDO:0010881
name: mesomelia-synostoses syndrome
def: "Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." [Orphanet:2496]
subset: gard_rare {source="GARD:0004302"}
subset: ordo_malformation_syndrome {source="Orphanet:2496"}
synonym: "8q13 microdeletion syndrome" EXACT [Orphanet:2496]
synonym: "chromosome 8Q13 deletion syndrome" RELATED [OMIM:600383]
synonym: "Del(8)q(13)" EXACT [Orphanet:2496]
synonym: "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis" RELATED [GARD:0004302]
synonym: "mesomelia synostoses" RELATED [GARD:0004302]
synonym: "mesomelia-synostoses syndrome" EXACT [OMIM:600383]
synonym: "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type" EXACT [Orphanet:2496]
synonym: "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type" EXACT [OMIM:600383, Orphanet:2496]
synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383]
synonym: "monosomy 8q13" EXACT [Orphanet:2496]
synonym: "Verloes-David syndrome" EXACT [Orphanet:2496]
xref: GARD:0004302 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="Orphanet:2496", source="ORDO:2496/attributed", source="ORDO:2496/ntbt"}
xref: MESH:C537348 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600383 {source="Orphanet:2496", source="ORDO:2496/e", source="MONDO:equivalentTo"}
xref: Orphanet:2496 {source="MONDO:equivalentTo", source="OMIM:600383"}
xref: SCTID:724147004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838162 {source="Orphanet:2496", source="ORDO:2496/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:600383"}
is_a: MONDO:0016907 {source="MONDOLEX:0010881", source="Orphanet:2496"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0019696 {source="Orphanet:2496"} ! acromesomelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C537348
property_value: exactMatch http://identifiers.org/omim/600383
property_value: exactMatch http://identifiers.org/snomedct/724147004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838162
property_value: exactMatch Orphanet:2496
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome xsd:anyURI {source="GARD:0004302"}

[Term]
id: MONDO:0010882
name: aphalangy-syndactyly-microcephaly syndrome
def: "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." [Orphanet:1113]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1113"}
synonym: "Aphalangia partial with syndactyly and duplication of metatarsal IV" RELATED [GARD:0000748]
synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [OMIM:600384]
synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384]
synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384]
xref: GARD:0000748 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:1113", source="ORDO:1113/attributed", source="ORDO:1113/ntbt"}
xref: MESH:C563942 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600384 {source="ORDO:1113/e", source="Orphanet:1113", source="MONDO:equivalentTo", source="GARD:0000748"}
xref: Orphanet:1113 {source="OMIM:600384", source="MONDO:equivalentTo"}
xref: UMLS:C1838161 {source="OMIM:600384", source="NCBI:mim2gene_medline", source="Orphanet:1113", source="MONDO:equivalentTo", source="GARD:0000748"}
is_a: MONDO:0017432 {source="Orphanet:1113"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:1113"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C563942
property_value: exactMatch http://identifiers.org/omim/600384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838161
property_value: exactMatch Orphanet:1113
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv xsd:anyURI {source="GARD:0000748"}

[Term]
id: MONDO:0010883
name: pectus excavatum-macrocephaly-dysplastic nails syndrome
def: "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." [Orphanet:2835]
subset: ordo_malformation_syndrome {source="Orphanet:2835"}
synonym: "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" RELATED [GARD:0000374]
synonym: "pectus excavatum, macrocephaly and dysplastic nails" RELATED [GARD:0000374]
synonym: "pectus excavatum, macrocephaly, short stature, and dysplastic nails" RELATED [OMIM:600399]
synonym: "Zori Stalker Williams syndrome" RELATED [GARD:0000374]
synonym: "Zori-Stalker-Williams syndrome" EXACT [Orphanet:2835]
xref: GARD:0000374 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600399 {source="MONDO:equivalentTo", source="ORDO:2835/e", source="Orphanet:2835"}
xref: Orphanet:2835 {source="OMIM:600399", source="MONDO:equivalentTo"}
xref: SCTID:763863002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931302 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2835"}
is_a: MONDO:0019285 {source="Orphanet:2835"} ! syndromic nail anomaly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2835"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838160
property_value: exactMatch http://identifiers.org/mesh/C536728
property_value: exactMatch http://identifiers.org/omim/600399
property_value: exactMatch http://identifiers.org/snomedct/763863002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931302
property_value: exactMatch Orphanet:2835

[Term]
id: MONDO:0010884
name: muscular dystrophy, scapulohumeral
synonym: "muscular dystrophy, scapulohumeral" EXACT [OMIM:600416]
xref: MESH:C562932 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600416 {source="MONDO:equivalentTo"}
xref: SCTID:240074006 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C0410192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600416"}
is_a: MONDO:0001347 {source="MESH:C562932", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C562932
property_value: exactMatch http://identifiers.org/omim/600416
property_value: exactMatch http://identifiers.org/snomedct/240074006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410192

[Term]
id: MONDO:0010885
name: angiokeratoma corporis diffusum with arteriovenous fistulas
synonym: "angiokeratoma corporis diffusum with arteriovenous fistulas" EXACT [OMIM:600419]
xref: MESH:C563940 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600419 {source="MONDO:equivalentTo"}
xref: UMLS:C1838141 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600419"}
is_a: MONDO:0003847 {source="MESH:C563940/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563940
property_value: exactMatch http://identifiers.org/omim/600419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838141

[Term]
id: MONDO:0010886
name: 2q37 microdeletion syndrome
def: "Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." [Orphanet:1001]
subset: ordo_malformation_syndrome {source="Orphanet:1001"}
synonym: "2q37 deletion syndrome" RELATED [GARD:0010202]
synonym: "Albright hereditary osteodystrophy type 3" EXACT [Orphanet:1001]
synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [Orphanet:1001]
synonym: "Albright hereditary osteodystrophy-like syndrome" RELATED [OMIM:600430]
synonym: "BDMR" EXACT [NCIT:C129021]
synonym: "brachydactyly mental retardation syndrome" EXACT [NCIT:C129021]
synonym: "brachydactyly-intellectual disability syndrome" EXACT [Orphanet:1001]
synonym: "brachydactyly-mental retardation syndrome" RELATED [OMIM:600430]
synonym: "chromosome 2q37 deletion syndrome" RELATED [OMIM:600430]
synonym: "Del(2)(q37)" EXACT [Orphanet:1001]
synonym: "deletion 2q37" EXACT [Orphanet:1001]
synonym: "deletion 2q37-qter" EXACT [Orphanet:1001]
synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001]
xref: GARD:0010202 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:1001", source="ORDO:1001/attributed", source="ORDO:1001/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538317 {source="ORDO:1001/e", source="Orphanet:1001", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129021 {source="MONDO:kboom-pr-1.00/0.78/7.20", source="MONDO:equivalentTo"}
xref: OMIM:600430 {source="ORDO:1001/e", source="Orphanet:1001", source="MONDO:equivalentTo"}
xref: Orphanet:1001 {source="OMIM:600430", source="MONDO:equivalentTo"}
xref: SCTID:702357000 {source="MONDO:kboom-pr-1.00/0.79/8.35", source="MONDO:equivalentTo"}
xref: UMLS:C2931817 {source="ORDO:1001/e", source="OMIM:600430", source="Orphanet:1001", source="MONDO:equivalentTo", source="NCIT:C129021"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016901 {source="MONDOLEX:0010886", source="Orphanet:1001"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0019066 {source="Orphanet:1001", source="Orphanet:1001/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838126
property_value: exactMatch http://identifiers.org/mesh/C538317
property_value: exactMatch http://identifiers.org/omim/600430
property_value: exactMatch http://identifiers.org/snomedct/702357000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931817
property_value: exactMatch NCIT:C129021
property_value: exactMatch Orphanet:1001

[Term]
id: MONDO:0010887
name: isolated anterior cervical hypertrichosis
def: "Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood." [Orphanet:3387]
subset: gard_rare {source="GARD:0008438"}
subset: ordo_disease {source="Orphanet:3387"}
synonym: "anterior cervical hypertrichosis" RELATED [GARD:0008438]
synonym: "hairy throat" RELATED [GARD:0008438]
synonym: "hairy throat syndrome" EXACT [Orphanet:3387]
synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457]
synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438]
synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387]
xref: GARD:0008438 {source="MONDO:equivalentTo"}
xref: ICD10:L68.2 {source="Orphanet:3387", source="ORDO:3387/attributed", source="ORDO:3387/ntbt"}
xref: MESH:C538390 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600457 {source="Orphanet:3387", source="ORDO:3387/e", source="MONDO:equivalentTo"}
xref: Orphanet:3387 {source="MONDO:equivalentTo", source="OMIM:600457"}
xref: SCTID:717963001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1838123 {source="Orphanet:3387", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600457"}
is_a: MONDO:0019280 {source="DC-OMIM:600457", source="MESH:C538390", source="Orphanet:3387", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C538390
property_value: exactMatch http://identifiers.org/omim/600457
property_value: exactMatch http://identifiers.org/snomedct/717963001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838123
property_value: exactMatch Orphanet:3387
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis xsd:anyURI {source="GARD:0008438"}

[Term]
id: MONDO:0010888
name: endometriosis of uterus
def: "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." [NCIT:C6996]
comment: Editor note: NCIT does not classify as a subtype of endometriosis
synonym: "adenomyosis" EXACT [NCIT:C6996, OMIM:600458]
synonym: "adenomyosis of the uterus" EXACT [NCIT:C6996]
synonym: "adenomyosis of uterus" EXACT [NCIT:C6996]
synonym: "endometriosis (disease) of myometrium" EXACT []
synonym: "endometriosis interna" EXACT [DOID:288]
synonym: "endometriosis of myometrium" EXACT [DOID:288]
synonym: "endometriosis, myometrium" EXACT [DOID:288, MTHICD9_2006:617.0]
synonym: "myometrium endometriosis (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine adenomyosis" EXACT [DOID:288, NCIT:C6996]
synonym: "uterine corpus adenomyosis" EXACT [NCIT:C6996]
synonym: "uterus corpus adenomyosis" EXACT [NCIT:C6996]
xref: COHD:200461 {source="MONDO:equivalentTo"}
xref: DOID:288 {source="MONDO:equivalentTo"}
xref: EFO:1001757 {source="MONDO:equivalentTo"}
xref: GARD:0008156 {source="MONDO:equivalentTo"}
xref: ICD10:N80.0 {source="MONDO:equivalentTo", source="DOID:288"}
xref: ICD9:617.0 {source="DOID:288"}
xref: MESH:D062788 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:288"}
xref: NCIT:C6996 {source="MONDO:equivalentTo", source="DOID:288"}
xref: OMIM:600458 {source="MONDO:equivalentTo", source="DOID:288"}
xref: SCTID:237115002 {source="MONDO:kboom-pr-0.90/0.76/0.43", source="MONDO:equivalentTo", source="DOID:288"}
xref: UMLS:C0341858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C6996", source="OMIM:600458", source="DOID:288"}
is_a: MONDO:0005133 {source="DOID:288", source="ICD10:N80.0", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/155988000
property_value: closeMatch http://identifiers.org/snomedct/198246007
property_value: closeMatch http://identifiers.org/snomedct/198247003
property_value: closeMatch http://identifiers.org/snomedct/198248008
property_value: closeMatch http://identifiers.org/snomedct/198249000
property_value: closeMatch http://identifiers.org/snomedct/76376003
property_value: exactMatch DOID:288
property_value: exactMatch http://identifiers.org/mesh/D062788
property_value: exactMatch http://identifiers.org/omim/600458
property_value: exactMatch http://identifiers.org/snomedct/237115002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341858
property_value: exactMatch NCIT:C6996

[Term]
id: MONDO:0010889
name: arterial dissection-lentiginosis syndrome
def: "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." [Orphanet:1682]
subset: ordo_malformation_syndrome {source="Orphanet:1682"}
synonym: "arterial dissection with lentiginosis" RELATED [OMIM:600459]
xref: ICD10:Q87.8 {source="Orphanet:1682", source="ORDO:1682/ntbt"}
xref: MESH:C563937 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600459 {source="Orphanet:1682", source="ORDO:1682/e", source="MONDO:equivalentTo"}
xref: Orphanet:1682 {source="MONDO:equivalentTo", source="OMIM:600459"}
xref: UMLS:C1838122 {source="Orphanet:1682", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600459"}
is_a: MONDO:0024471 {source="Orphanet:1682"} ! non-inflammatory vasculopathy
property_value: exactMatch http://identifiers.org/mesh/C563937
property_value: exactMatch http://identifiers.org/omim/600459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838122
property_value: exactMatch Orphanet:1682

[Term]
id: MONDO:0010890
name: acrocardiofacial syndrome
def: "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." [Orphanet:2008]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2008"}
synonym: "ACFS" EXACT [Orphanet:2008]
synonym: "acrocardiofacial syndrome" EXACT [OMIM:600460]
synonym: "CCGE" RELATED [OMIM:600460]
synonym: "CCGE syndrome" EXACT [Orphanet:2008]
synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460]
synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008]
xref: GARD:0001167 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2008/attributed", source="ORDO:2008/ntbt", source="Orphanet:2008"}
xref: MESH:C563936 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600460 {source="MONDO:equivalentTo", source="ORDO:2008/e", source="Orphanet:2008"}
xref: Orphanet:2008 {source="MONDO:equivalentTo", source="OMIM:600460"}
xref: UMLS:C1838121 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2008", source="MEDGEN:kboom-pr92-c96", source="OMIM:600460"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2008", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2008"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2008"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C563936
property_value: exactMatch http://identifiers.org/omim/600460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838121
property_value: exactMatch Orphanet:2008

[Term]
id: MONDO:0010891
name: lethal hemolytic anemia-genital anomalies syndrome
def: "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." [Orphanet:1046]
subset: ordo_malformation_syndrome {source="Orphanet:1046"}
synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642]
synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461]
synonym: "water-West syndrome" EXACT [Orphanet:1046]
xref: GARD:0002642 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D58.8 {source="Orphanet:1046", source="ORDO:1046/attributed", source="ORDO:1046/ntbt"}
xref: MESH:C563935 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600461 {source="Orphanet:1046", source="ORDO:1046/e", source="MONDO:equivalentTo"}
xref: Orphanet:1046 {source="OMIM:600461", source="MONDO:equivalentTo"}
xref: UMLS:C1838120 {source="OMIM:600461", source="Orphanet:1046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0003664 {source="Orphanet:1046"} ! hemolytic anemia
is_a: MONDO:0015620 {source="Orphanet:1046"} ! syndromic urogenital tract malformation
property_value: exactMatch http://identifiers.org/mesh/C563935
property_value: exactMatch http://identifiers.org/omim/600461
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838120
property_value: exactMatch Orphanet:1046

[Term]
id: MONDO:0010892
name: obsolete mitochondrial myopathy and sideroblastic anemia
is_obsolete: true
replaced_by: MONDO:0000863

[Term]
id: MONDO:0010893
name: malignant hyperthermia, susceptibility to, 4
subset: gard_rare
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 4" RELATED [GARD:0003366, MESH:C535697]
synonym: "malignant hyperthermia susceptibility type 4" RELATED [GARD:0003366]
synonym: "malignant hyperthermia, susceptibility to, 4" EXACT [MESH:C535697, OMIM:600467]
synonym: "malignant hyperthermia, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:600467]
synonym: "MHS4" RELATED [GARD:0003366, MESH:C535697]
synonym: "Mhs4" RELATED [OMIM:600467]
xref: GARD:0003366 {source="MONDO:equivalentTo"}
xref: MESH:C535697 {source="MONDO:equivalentTo"}
xref: OMIM:600467 {source="GARD:0003366", source="MONDO:equivalentTo"}
is_a: MONDO:0018493 {source="DC-OMIM:600467", source="MESH:C535697", source="MONDOLEX:0010893", source="OMIM:600467"} ! malignant hyperthermia of anesthesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838102
property_value: exactMatch http://identifiers.org/mesh/C535697
property_value: exactMatch http://identifiers.org/omim/600467
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 xsd:anyURI {source="GARD:0003366"}

[Term]
id: MONDO:0010894
name: maturity-onset diabetes of the young type 3
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." [NCIT:C129742]
subset: gard_rare {source="GARD:0010658"}
synonym: "diabetes mellitus MODY type 3" RELATED [GARD:0010658]
synonym: "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" EXACT [NCIT:C129742]
synonym: "HNF1A maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HNF1A-associated monogenic diabetes" EXACT [NCIT:C129742]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A" EXACT []
synonym: "maturity-onset diabetes of the young, type 3" RELATED [MONDO:Lexical, OMIM:600496]
synonym: "maturity-onset diabetes of the young, type 3; MODY3" RELATED [OMIM:600496]
synonym: "MODY hepatocyte nuclear factor-1-alpha related" RELATED [GARD:0010658]
synonym: "MODY type 3" EXACT [DOID:0111102, GARD:0010658]
synonym: "MODY, type 3" RELATED [OMIM:600496]
synonym: "MODY3" EXACT [DOID:0111102, MONDO:Lexical, OMIM:600496]
synonym: "type 3 maturity-onset diabetes of the young" RELATED [GARD:0010658]
xref: DOID:0111102 {source="MONDO:equivalentTo"}
xref: GARD:0010658 {source="MONDO:equivalentTo"}
xref: MESH:C563933 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129742 {source="MONDO:equivalentTo"}
xref: OMIM:600496 {source="MONDO:equivalentTo", source="DOID:0111102"}
xref: SCTID:609570008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C1838100 {source="MEDGEN:kboom-pr98-c99", source="OMIM:600496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:600496", source="DOID:0111102", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111102
property_value: exactMatch http://identifiers.org/mesh/C563933
property_value: exactMatch http://identifiers.org/omim/600496
property_value: exactMatch http://identifiers.org/snomedct/609570008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838100
property_value: exactMatch NCIT:C129742
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 xsd:anyURI {source="GARD:0010658"}

[Term]
id: MONDO:0010895
name: ABCD syndrome
def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." [DOID:0050600, http://en.wikipedia.org/wiki/ABCD_syndrome, http://omim.org/entry/600501]
synonym: "ABCD syndrome" EXACT [MONDO:Lexical, OMIM:600501]
synonym: "ABCD syndrome; ABCDS" RELATED [OMIM:600501]
synonym: "ABCDS" RELATED [MONDO:Lexical, OMIM:600501]
synonym: "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" RELATED [OMIM:600501]
synonym: "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [DOID:0050600]
xref: DOID:0050600 {source="MONDO:equivalentTo"}
xref: MESH:C535334 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600501 {source="MONDO:equivalentTo", source="DOID:0050600"}
xref: Orphanet:918 {source="MONDO:equivalentTo", source="OMIM:600501"}
xref: UMLS:C1838099 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600501"}
xref: UMLS:CN206498 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050600", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0050600
property_value: exactMatch http://identifiers.org/mesh/C535334
property_value: exactMatch http://identifiers.org/omim/600501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206498
property_value: exactMatch Orphanet:918

[Term]
id: MONDO:0010896
name: pigment dispersion syndrome
def: "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye ( aqueous humor ). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." [https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome]
subset: gard_rare {source="GARD:0004356"}
synonym: "glaucoma, pigment-dispersion type" RELATED [OMIM:600510]
synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical, OMIM:600510]
synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680]
synonym: "glaucoma-RELATED pigment dispersion syndrome; GPDS1" RELATED [OMIM:600510]
synonym: "GPDS1" RELATED [MONDO:Lexical, OMIM:600510]
synonym: "pigment dispersion syndrome" EXACT [OMIM:600510]
synonym: "pigment-dispersion syndrome" RELATED [GARD:0004356]
synonym: "pigment-dispersion type glaucoma" EXACT [DOID:0060680]
xref: DOID:0060680 {source="MONDO:equivalentTo"}
xref: GARD:0004356 {source="MONDO:equivalentTo"}
xref: MESH:C563184 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060680"}
xref: OMIM:600510 {source="MONDO:equivalentTo", source="DOID:0060680"}
xref: SCTID:392133001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1271398 {source="MEDGEN:kboom-pr97-c99", source="OMIM:600510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005328 {source="DOID:0060680", source="MESH:C563184/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch Orphanet:26823
property_value: exactMatch DOID:0060680
property_value: exactMatch http://identifiers.org/mesh/C563184
property_value: exactMatch http://identifiers.org/omim/600510
property_value: exactMatch http://identifiers.org/snomedct/392133001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1271398
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome xsd:anyURI {source="GARD:0004356"}

[Term]
id: MONDO:0010897
name: SCZD3
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23." [DOID:0070079]
synonym: "schizophrenia 3" RELATED [MONDO:Lexical, OMIM:600511]
synonym: "schizophrenia 3 with or without an affective disorder" RELATED [OMIM:600511]
synonym: "schizophrenia 3; SCZD3" RELATED [OMIM:600511]
synonym: "schizophrenia susceptibility locus, chromosome 6-related" RELATED [OMIM:600511]
synonym: "SCZD3" EXACT [DOID:0070079, MONDO:Lexical, OMIM:600511]
xref: DOID:0070079 {source="MONDO:equivalentTo"}
xref: OMIM:600511 {source="DOID:0070079", source="MONDO:equivalentTo"}
xref: UMLS:C1838069 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600511"}
is_a: MONDO:0005090 {source="DC-OMIM:600511", source="DOID:0070079"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070079
property_value: exactMatch http://identifiers.org/omim/600511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838069

[Term]
id: MONDO:0010898
name: Autosomal dominant epilepsy with auditory features
def: "An autosomal dominant condition that is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." [https://github.com/monarch-initiative/mondo/issues/1134, NCIT:C141441]
comment: Editor note: split out generic type
subset: ordo_disease {source="Orphanet:101046"}
synonym: "ADEAF" EXACT [Orphanet:101046]
synonym: "ADLTE" EXACT [Orphanet:101046]
synonym: "ADPEAF" EXACT [Orphanet:101046]
synonym: "autosomal dominant epilepsy with auditory features" RELATED [Orphanet:101046]
synonym: "autosomal dominant lateral temporal lobe epilepsy" EXACT [Orphanet:101046]
synonym: "autosomal dominant partial epilepsy with auditory features" RELATED [GARD:0002257]
synonym: "epilepsy, familial temporal lobe 1" EXACT [NCIT:C141441]
synonym: "epilepsy, familial temporal lobe, 1" RELATED [MONDO:Lexical, OMIM:600512]
synonym: "epilepsy, familial temporal lobe, 1; ETL1" RELATED [OMIM:600512]
synonym: "epilepsy, familial temporal lobe, type 1" EXACT [MONDORULE:1, OMIM:600512]
synonym: "epilepsy, lateral temporal lobe, autosomal dominant" RELATED [OMIM:600512]
synonym: "epilepsy, partial, with auditory features" RELATED [OMIM:600512]
synonym: "ETL1" EXACT [DOID:0060748, MONDO:Lexical, OMIM:600512]
synonym: "familial temporal lobe epilepsy 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1134]
synonym: "familial temporal lobe epilepsy type 1" EXACT [DOID:0060748, MONDORULE:1]
synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046]
synonym: "partial epilepsy with auditory features" EXACT [DOID:0060748, Orphanet:101046]
xref: DOID:0060748 {source="MONDO:equivalentTo"}
xref: GARD:0002257 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537297 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C141441 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:600512 {source="ORDO:101046/e", source="Orphanet:101046", source="MONDO:equivalentTo", source="DOID:0060748"}
xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"}
xref: UMLS:C1838062 {source="Orphanet:101046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600512", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0005115 {source="DC-OMIM:600512", source="DOID:0060748", source="OMIM:600512"} ! temporal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:101046"} ! familial partial epilepsy
property_value: exactMatch DOID:0060748
property_value: exactMatch http://identifiers.org/mesh/C537297
property_value: exactMatch http://identifiers.org/omim/600512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838062
property_value: exactMatch NCIT:C141441
property_value: exactMatch Orphanet:101046

[Term]
id: MONDO:0010899
name: autosomal dominant nocturnal frontal lobe epilepsy 1
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [DOID:0060682, MONDORULE:1]
synonym: "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ENFL1" EXACT [DOID:0060682, MONDO:Lexical, OMIM:600513]
synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical, OMIM:600513]
synonym: "epilepsy, nocturnal frontal lobe, 1; ENFL1" RELATED [OMIM:600513]
synonym: "epilepsy, nocturnal frontal lobe, type 1" EXACT [MONDORULE:1, OMIM:600513]
synonym: "nocturnal frontal lobe epilepsy 1" EXACT [DOID:0060682]
xref: DOID:0060682 {source="MONDO:equivalentTo"}
xref: MESH:C563930 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600513 {source="DOID:0060682", source="MONDO:equivalentTo"}
xref: UMLS:C1838049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600513"}
is_a: MONDO:0000030 {source="DC-OMIM:600513", source="OMIM:600513"} ! epilepsy, nocturnal frontal lobe
is_a: MONDO:0020300 {source="DOID:0060682", source="MONDO:Redundant", source="MONDOLEX:0010899"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: exactMatch DOID:0060682
property_value: exactMatch http://identifiers.org/mesh/C563930
property_value: exactMatch http://identifiers.org/omim/600513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838049

[Term]
id: MONDO:0010900
name: intrauterine growth retardation with increased mitomycin c sensitivity
subset: gard_rare {source="GARD:0005593"}
synonym: "intrauterine growth retardation with increased mitomycin c sensitivity" EXACT [OMIM:600546]
xref: GARD:0005593 {source="MONDO:equivalentTo"}
xref: MESH:C536744 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600546 {source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="ORDO:808/btnt"} ! Seckel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833615
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931307
property_value: exactMatch http://identifiers.org/mesh/C536744
property_value: exactMatch http://identifiers.org/omim/600546
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity xsd:anyURI {source="GARD:0005593"}

[Term]
id: MONDO:0010901
name: HEC syndrome
def: "HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed." [Orphanet:2119]
comment: Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy
subset: gard_rare {source="GARD:0002620"}
subset: ordo_malformation_syndrome {source="Orphanet:2119"}
synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" RELATED [GARD:0002620]
synonym: "HEC syndrome" EXACT [OMIM:600559]
synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [OMIM:600559]
synonym: "hydrocephalus-endocardial fibroelastosis-cataract syndrome" EXACT [Orphanet:2119]
xref: GARD:0002620 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2119/attributed", source="ORDO:2119/ntbt", source="Orphanet:2119"}
xref: MESH:C535855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600559 {source="MONDO:equivalentTo", source="Orphanet:2119", source="ORDO:2119/e"}
xref: Orphanet:2119 {source="MONDO:equivalentTo", source="OMIM:600559"}
xref: SCTID:721015008 {source="MONDO:kboom-pr-1.00/0.74/6.19", source="MONDO:equivalentTo"}
xref: UMLS:C1833607 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2119", source="OMIM:600559"}
is_a: MONDO:0002254 {source="MONDOLEX:0010901"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535855
property_value: exactMatch http://identifiers.org/omim/600559
property_value: exactMatch http://identifiers.org/snomedct/721015008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833607
property_value: exactMatch Orphanet:2119
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome xsd:anyURI {source="GARD:0002620"}

[Term]
id: MONDO:0010902
name: spondyloepiphyseal dysplasia, Reardon type
def: "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." [Orphanet:163662]
subset: ordo_disease {source="Orphanet:163662"}
synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561]
xref: ICD10:Q77.7 {source="ORDO:163662/attributed", source="ORDO:163662/ntbt", source="Orphanet:163662"}
xref: MESH:C563472 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600561 {source="ORDO:163662/e", source="MONDO:equivalentTo", source="Orphanet:163662"}
xref: Orphanet:163662 {source="OMIM:600561", source="MONDO:equivalentTo"}
xref: SCTID:718764004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C1833603 {source="OMIM:600561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163662"}
is_a: MONDO:0016761 {source="Orphanet:163662"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C563472
property_value: exactMatch http://identifiers.org/omim/600561
property_value: exactMatch http://identifiers.org/snomedct/718764004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833603
property_value: exactMatch Orphanet:163662

[Term]
id: MONDO:0010903
name: craniosynostosis, Adelaide type
synonym: "craniosynostosis, Adelaide type" EXACT [MONDO:Lexical, OMIM:600593]
synonym: "craniosynostosis, Adelaide type; CRSA" RELATED [OMIM:600593]
synonym: "CRSA" RELATED [MONDO:Lexical, OMIM:600593]
xref: MESH:C563471 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600593 {source="MONDO:equivalentTo"}
xref: UMLS:C1833578 {source="OMIM:600593", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="DC-OMIM:600593", source="MESH:C563471", source="MONDOLEX:0010903"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C563471
property_value: exactMatch http://identifiers.org/omim/600593
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833578

[Term]
id: MONDO:0010904
name: setting-Sun phenomenon, familial benign
synonym: "setting-Sun phenomenon, familial benign" EXACT [OMIM:600598]
xref: MESH:C563470 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600598 {source="MONDO:equivalentTo"}
xref: UMLS:C1833577 {source="OMIM:600598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563470
property_value: exactMatch http://identifiers.org/omim/600598
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833577

[Term]
id: MONDO:0010905
name: cone-rod dystrophy 1
subset: gard_rare {source="GARD:0010651"}
synonym: "cone-rod dystrophy 1" EXACT [MONDO:Lexical, OMIM:600624]
synonym: "cone-rod dystrophy 1; CORD1" RELATED [OMIM:600624]
synonym: "cone-rod dystrophy type 1" EXACT [DOID:0111009, MONDORULE:1]
synonym: "CORD1" EXACT [DOID:0111009, MONDO:Lexical, OMIM:600624]
synonym: "CRD1" EXACT [DOID:0111009]
synonym: "Crd1" RELATED [OMIM:600624]
xref: DOID:0111009 {source="MONDO:equivalentTo"}
xref: GARD:0010651 {source="MONDO:equivalentTo"}
xref: MESH:C563469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600624 {source="DOID:0111009", source="MONDO:equivalentTo"}
xref: UMLS:C1833564 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600624"}
is_a: MONDO:0015993 {source="DC-OMIM:600624", source="DOID:0111009"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111009
property_value: exactMatch http://identifiers.org/mesh/C563469
property_value: exactMatch http://identifiers.org/omim/600624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833564
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1 xsd:anyURI {source="GARD:0010651"}

[Term]
id: MONDO:0010906
name: orofacial cleft 11
def: "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMP4 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625]
synonym: "cleft Lip, congenital Healed" RELATED [OMIM:600625]
synonym: "congenital Healed cleft lip" RELATED [OMIM:600625]
synonym: "OFC11" RELATED [MONDO:Lexical, OMIM:600625]
synonym: "orofacial cleft 11" EXACT [MONDO:Lexical, OMIM:600625]
synonym: "orofacial cleft 11; OFC11" RELATED [OMIM:600625]
synonym: "orofacial cleft caused by mutation in BMP4" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 11" EXACT [MONDORULE:2, OMIM:600625]
xref: OMIM:600625 {source="MONDO:equivalentTo"}
xref: UMLS:C2677434 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600625"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:600625"} ! orofacial cleft
is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833563
property_value: exactMatch http://identifiers.org/omim/600625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677434

[Term]
id: MONDO:0010907
name: familial hypertryptophanemia
def: "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." [Orphanet:2224]
subset: gard_rare {source="GARD:0002871"}
subset: ordo_disease {source="Orphanet:2224"}
synonym: "hypertryptophanemia" BROAD []
synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627]
synonym: "hypertryptophanemia; HYPTRP" RELATED [OMIM:600627]
synonym: "HYPTRP" RELATED [OMIM:600627]
xref: GARD:0002871 {source="MONDO:equivalentTo"}
xref: ICD10:E70.8 {source="Orphanet:2224", source="ORDO:2224/attributed", source="ORDO:2224/ntbt"}
xref: MESH:C538393 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"}
xref: OMIM:600627 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"}
xref: Orphanet:2224 {source="MONDO:equivalentTo", source="OMIM:600627"}
xref: SCTID:721838005 {source="MONDO:equivalentTo"}
xref: UMLS:C1833562 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600627"}
xref: UMLS:C2931837 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"}
is_a: MONDO:0017350 {source="Orphanet:2224", source="linkedlifedata/inferred"} ! inborn disorder of tryptophan metabolism
property_value: exactMatch http://identifiers.org/mesh/C538393
property_value: exactMatch http://identifiers.org/omim/600627
property_value: exactMatch http://identifiers.org/snomedct/721838005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931837
property_value: exactMatch Orphanet:2224
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia xsd:anyURI {source="GARD:0002871"}

[Term]
id: MONDO:0010908
name: loose anagen syndrome
def: "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." [Orphanet:168]
subset: ordo_disease {source="Orphanet:168"}
synonym: "loose anagen hair syndrome" RELATED [OMIM:600628]
xref: GARD:0003287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L65.1 {source="ORDO:168/attributed", source="ORDO:168/ntbt", source="Orphanet:168"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058247 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:168/e", source="Orphanet:168"}
xref: OMIM:600628 {source="MONDO:equivalentTo", source="ORDO:168/e", source="Orphanet:168"}
xref: Orphanet:168 {source="MONDO:equivalentTo", source="OMIM:600628"}
xref: SCTID:238735005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.58"}
xref: UMLS:C0406468 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600628", source="ORDO:168/e", source="Orphanet:168"}
is_a: MONDO:0004907 {source="MESH:D058247", source="Orphanet:168"} ! alopecia
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/mesh/D058247
property_value: exactMatch http://identifiers.org/omim/600628
property_value: exactMatch http://identifiers.org/snomedct/238735005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406468
property_value: exactMatch Orphanet:168

[Term]
id: MONDO:0010909
name: UV-sensitive syndrome 1
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERCC6 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, OMIM:600630]
synonym: "UV-sensitive syndrome 1; UVSS1" RELATED [OMIM:600630]
synonym: "UV-sensitive syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1, OMIM:600630]
synonym: "UVSS1" RELATED [MONDO:Lexical, OMIM:600630]
xref: OMIM:600630 {source="MONDO:equivalentTo"}
xref: UMLS:C3551173 {source="OMIM:600630", source="MONDO:equivalentTo"}
is_a: MONDO:0015797 {source="DC-OMIM:600630", source="MONDO:Redundant", source="OMIM:600630"} ! UV-sensitive syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833561
property_value: exactMatch http://identifiers.org/omim/600630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3551173

[Term]
id: MONDO:0010910
name: ENUR1
def: "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." []
synonym: "Bedwetting" RELATED [OMIM:600631]
synonym: "ENUR1" EXACT [MONDO:Lexical, OMIM:600631]
synonym: "enuresis, nocturnal, 1" RELATED [MONDO:Lexical, OMIM:600631]
synonym: "enuresis, nocturnal, 1; ENUR1" RELATED [OMIM:600631]
xref: OMIM:600631 {source="MONDO:equivalentTo"}
is_a: MONDO:0000022 {source="DC-OMIM:600631", source="MONDOLEX:0010910"} ! nocturnal enuresis
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270327
property_value: exactMatch http://identifiers.org/omim/600631

[Term]
id: MONDO:0010911
name: prolactin-producing pituitary gland adenoma
def: "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." [Orphanet:2965]
subset: ordo_disease {source="Orphanet:2965"}
synonym: "familial prolactinoma" EXACT [DOID:5394]
synonym: "Forbes-Albright syndrome (formerly)" RELATED [GARD:0004508]
synonym: "lactotrope adenoma" EXACT [NCIT:C3342]
synonym: "lactotroph adenoma" EXACT [NCIT:C3342, Orphanet:2965]
synonym: "lactotroph cell adenoma" EXACT [NCIT:C3342]
synonym: "pituitary adenoma, prolactin-secreting" EXACT [DOID:5394, OMIM:600634]
synonym: "pituitary gland prolactinoma" EXACT [NCIT:C3342]
synonym: "pituitary lactotrophic adenoma" EXACT [Orphanet:2965]
synonym: "pituitary prolactinoma" EXACT [NCIT:C3342]
synonym: "PRL producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "PRL-secreting pituitary adenoma" EXACT [Orphanet:2965]
synonym: "PRLoma" EXACT [Orphanet:2965]
synonym: "prolactin producing adenoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin producing pituitary adenoma" EXACT [NCIT:C3342]
synonym: "prolactin producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin secreting pituitary adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin-producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin-secreting pituitary adenoma" EXACT [Orphanet:2965]
synonym: "prolactinoma" EXACT [NCIT:C3342]
synonym: "prolactinoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactinoma of pituitary gland" EXACT [DOID:5394, NCIT:C3342]
synonym: "prolactinoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactinoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactinoma, familial" RELATED [OMIM:600634]
xref: DOID:5394 {source="MONDO:equivalentTo"}
xref: EFO:1000496 {source="MONDO:equivalentTo"}
xref: GARD:0004508 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"}
xref: ICD10:E22.1 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"}
xref: ICDO:8271/0 {source="NCIT:C3342"}
xref: MedDRA:10036832 {source="ORDO:2965/e", source="Orphanet:2965"}
xref: MESH:D015175 {source="MONDO:equivalentTo", source="ORDO:2965/e", source="Orphanet:2965", source="MONDO:ontobio", source="DOID:5394"}
xref: NCIT:C3342 {source="EFO:1000496", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5394"}
xref: OMIM:600634 {source="EFO:1000496", source="MONDO:equivalentTo", source="DOID:5394"}
xref: Orphanet:2965 {source="MONDO:equivalentTo"}
xref: SCTID:134209002 {source="MONDO:kboom-pr-1.00/0.80/8.91", source="MONDO:equivalentTo", source="DOID:5394"}
xref: UMLS:C0033375 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2965/e", source="NCIT:C3342", source="OMIM:600634", source="Orphanet:2965", source="DOID:5394"}
is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor
is_a: MONDO:0017824 {source="ORDO:314777/btnt"} ! familial isolated pituitary adenoma
is_a: MONDO:0018405 ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0018411 ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0021148 ! female reproductive system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/34337008
property_value: closeMatch http://identifiers.org/snomedct/367098005
property_value: exactMatch DOID:5394
property_value: exactMatch http://identifiers.org/meddra/10036832
property_value: exactMatch http://identifiers.org/mesh/D015175
property_value: exactMatch http://identifiers.org/omim/600634
property_value: exactMatch http://identifiers.org/snomedct/134209002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033375
property_value: exactMatch NCIT:C3342
property_value: exactMatch Orphanet:2965

[Term]
id: MONDO:0010912
name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CFEOM3A" RELATED [MONDO:Lexical, OMIM:600638]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" EXACT [MONDO:design_pattern]
synonym: "Feom3 locus" RELATED [OMIM:600638]
synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" EXACT [MONDO:Lexical, OMIM:600638]
synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A" RELATED [OMIM:600638]
synonym: "TUBB3 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567572 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600638 {source="MONDO:equivalentTo"}
xref: UMLS:C2748801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600638"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:600638", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles
property_value: exactMatch http://identifiers.org/mesh/C567572
property_value: exactMatch http://identifiers.org/omim/600638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748801

[Term]
id: MONDO:0010913
name: Caroli disease
def: "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." [Orphanet:53035]
subset: gard_rare {source="GARD:0006002"}
subset: ordo_malformation_syndrome {source="Orphanet:53035"}
synonym: "Caroli disease isolated" RELATED [GARD:0006002]
synonym: "CAROLI disease, isolated" RELATED [OMIM:600643]
synonym: "congenital polycystic dilatation of intrahepatic bile ducts" RELATED [GARD:0006002]
synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006002]
xref: DOID:0050876 {source="MONDO:equivalentTo"}
xref: EFO:1001286 {source="MONDO:equivalentTo"}
xref: GARD:0006002 {source="MONDO:equivalentTo"}
xref: ICD10:Q44.6 {source="Orphanet:53035", source="ORDO:53035/attributed", source="ORDO:53035/ntbt"}
xref: MedDRA:10013003 {source="Orphanet:53035", source="ORDO:53035/e"}
xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="ORDO:53035/e"}
xref: NCIT:C84619 {source="DOID:0050876", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:600643 {source="Orphanet:53035", source="MONDO:equivalentTo", source="ORDO:53035/e"}
xref: Orphanet:53035 {source="MONDO:equivalentTo", source="OMIM:600643"}
xref: SCTID:717232005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0162510 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="NCIT:C84619", source="ORDO:53035/e"}
xref: UMLS:C1833541 {source="Orphanet:53035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600643", source="ORDO:53035/e"}
is_a: MONDO:0006322 {source="NCIT:C84619"} ! non-neoplastic bile duct disorder
is_a: MONDO:0015213 {source="Orphanet:53035"} ! non-syndromic visceral malformation
is_a: MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:53035"} ! genetic biliary tract disease
property_value: closeMatch http://identifiers.org/snomedct/111331000
property_value: exactMatch DOID:0050876
property_value: exactMatch http://identifiers.org/meddra/10013003
property_value: exactMatch http://identifiers.org/mesh/C531647
property_value: exactMatch http://identifiers.org/mesh/D016767
property_value: exactMatch http://identifiers.org/omim/600643
property_value: exactMatch http://identifiers.org/snomedct/717232005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833541
property_value: exactMatch NCIT:C84619
property_value: exactMatch Orphanet:53035
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6002/caroli-disease xsd:anyURI {source="GARD:0006002"}

[Term]
id: MONDO:0010914
name: carnitine palmitoyl transferase II deficiency, severe infantile form
def: "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." [Orphanet:228305]
subset: ordo_clinical_subtype {source="Orphanet:228305"}
synonym: "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" EXACT [Orphanet:228305]
synonym: "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia" RELATED [OMIM:600649]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" RELATED [OMIM:600649]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, infantile" RELATED [OMIM:600649]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile" RELATED [OMIM:600649]
synonym: "CPT 2 deficiency, hepatic" RELATED [OMIM:600649]
synonym: "Cpt2 deficiency, infantile" RELATED [OMIM:600649]
synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305]
synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "CPTII, severe infantile form" EXACT [Orphanet:228305]
xref: ICD10:E71.3 {source="Orphanet:228305", source="ORDO:228305/attributed", source="ORDO:228305/ntbt"}
xref: MESH:C563462 {source="MONDO:equivalentTo"}
xref: OMIM:600649 {source="ORDO:228305/e", source="Orphanet:228305", source="MONDO:equivalentTo"}
xref: Orphanet:228305 {source="MONDO:equivalentTo", source="OMIM:600649"}
xref: UMLS:C1833511 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:228305", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600649"}
is_a: MONDO:0015515 {source="DC-OMIM:600649", source="Orphanet:228305"} ! carnitine palmitoyltransferase II deficiency
property_value: exactMatch http://identifiers.org/mesh/C563462
property_value: exactMatch http://identifiers.org/omim/600649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833511
property_value: exactMatch Orphanet:228305

[Term]
id: MONDO:0010915
name: autosomal dominant nonsyndromic deafness 4A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 4A" EXACT [DOID:0110573]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 4A" EXACT [DOID:0110573, MONDORULE:4]
synonym: "deafness, autosomal dominant 4" RELATED [OMIM:600652]
synonym: "deafness, autosomal dominant 4A" RELATED [MONDO:Lexical, OMIM:600652]
synonym: "deafness, autosomal dominant 4A; DFNA4A" RELATED [OMIM:600652]
synonym: "deafness, autosomal dominant type 4A" EXACT [MONDORULE:4, OMIM:600652]
synonym: "DFNA4A" EXACT [DOID:0110573, MONDO:Lexical, OMIM:600652]
synonym: "MYH14 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110573 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110573"}
xref: MESH:C563460 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600652 {source="MONDO:equivalentTo", source="DOID:0110573"}
xref: UMLS:C1833503 {source="NCBI:mim2gene_medline", source="OMIM:600652", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:600652", source="DOID:0110573", source="MONDO:Redundant", source="OMIM:600652"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110573
property_value: exactMatch http://identifiers.org/mesh/C563460
property_value: exactMatch http://identifiers.org/omim/600652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833503

[Term]
id: MONDO:0010916
name: polycystic kidney disease 3 with or without polycystic liver disease
def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Apkd3" EXACT [DOID:0110860]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern]
synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PKD3" EXACT [MONDO:Lexical, OMIM:600666]
synonym: "Pkd3" EXACT [DOID:0110860]
synonym: "polycystic kidney disease 3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease 3 with or without polycystic liver disease; PKD3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:600666]
synonym: "polycystic kidney disease 3, autosomal dominant; PKD3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease type 3" EXACT [DOID:0110860, MONDORULE:1]
synonym: "polycystic kidney disease, adult, type 3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease, adult, type III" EXACT [DOID:0110860]
synonym: "polycystic kidney disease, type 3" EXACT [OMIM:600666]
xref: DOID:0110860 {source="MONDO:equivalentTo"}
xref: OMIM:600666 {source="MONDO:equivalentTo", source="DOID:0110860"}
xref: UMLS:C3887964 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004691 {source="DC-OMIM:600666", source="DOID:0110860", source="MONDO:Redundant", source="OMIM:600666"} ! autosomal dominant polycystic kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1418603
property_value: exactMatch DOID:0110860
property_value: exactMatch http://identifiers.org/omim/600666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887964

[Term]
id: MONDO:0010917
name: CCAL1
synonym: "CCAL1" EXACT [MONDO:Lexical, OMIM:600668]
synonym: "chondrocalcinosis 1" RELATED [MONDO:Lexical, OMIM:600668]
synonym: "chondrocalcinosis 1; CCAL1" RELATED [OMIM:600668]
synonym: "chondrocalcinosis with early-onset osteoarthritis" RELATED [OMIM:600668]
xref: GARD:0006048 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535938 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600668 {source="MONDO:equivalentTo"}
is_a: MONDO:0007319 {source="ORDO:1416/btnt"} ! familial calcium pyrophosphate deposition
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833499
property_value: exactMatch http://identifiers.org/mesh/C535938
property_value: exactMatch http://identifiers.org/omim/600668

[Term]
id: MONDO:0010918
name: EIG1
subset: predisposition
synonym: "EIG" EXACT [MONDO:Lexical, OMIM:600669]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 1" RELATED [OMIM:600669]
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562694 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600669 {source="MONDO:equivalentTo"}
xref: SCTID:36803009 {source="MONDO:kboom-pr-1.00/0.79/7.87", source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="linkedlifedata"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270850
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748799
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748800
property_value: exactMatch http://identifiers.org/mesh/C562694
property_value: exactMatch http://identifiers.org/omim/600669
property_value: exactMatch http://identifiers.org/snomedct/36803009

[Term]
id: MONDO:0010919
name: varicella, severe recurrent
synonym: "varicella, severe recurrent" EXACT [OMIM:600670]
xref: MESH:C563458 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600670 {source="MONDO:equivalentTo"}
xref: UMLS:C1833487 {source="OMIM:600670", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563458
property_value: exactMatch http://identifiers.org/omim/600670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833487

[Term]
id: MONDO:0010920
name: microtia
def: "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal." [Orphanet:83463]
subset: ordo_morphological_anomaly {source="Orphanet:83463"}
synonym: "M-A" RELATED [GARD:0000431]
synonym: "microtia-anotia" RELATED [OMIM:600674]
xref: COHD:378849 {source="MONDO:equivalentTo"}
xref: GARD:0000431 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="ORDO:83463/specific", source="ORDO:83463/e"}
xref: ICD9:744.23 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10027555 {source="Orphanet:83463", source="ORDO:83463/e"}
xref: OMIM:600674 {source="Orphanet:83463", source="MONDO:equivalentTo", source="ORDO:83463/e"}
xref: Orphanet:83463 {source="OMIM:600674", source="MONDO:equivalentTo"}
xref: SCTID:35045004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015502 {source="Orphanet:83463"} ! pinnae and external auditory canal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152423
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833486
property_value: exactMatch http://identifiers.org/meddra/10027555
property_value: exactMatch http://identifiers.org/mesh/C537772
property_value: exactMatch http://identifiers.org/omim/600674
property_value: exactMatch http://identifiers.org/snomedct/35045004
property_value: exactMatch Orphanet:83463

[Term]
id: MONDO:0010921
name: nasal dermoid cyst
def: "A dermoid cyst that involves the nose." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:141103"}
synonym: "dermoid cysts, familial frontonasal" RELATED [OMIM:600679]
synonym: "nasal dermoid sinus cyst" EXACT [Orphanet:141103]
xref: ICD10:Q18.8 {source="ORDO:141103/ntbt", source="Orphanet:141103"}
xref: MESH:C563455 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600679 {source="MONDO:equivalentTo", source="ORDO:141103/e", source="Orphanet:141103"}
xref: Orphanet:141103 {source="MONDO:equivalentTo", source="OMIM:600679"}
xref: UMLS:C1833473 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600679", source="Orphanet:141103"}
is_a: MONDO:0002436 ! nasal disorder
is_a: MONDO:0015380 ! facial dermoid cyst
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/mesh/C563455
property_value: exactMatch http://identifiers.org/omim/600679
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833473
property_value: exactMatch Orphanet:141103

[Term]
id: MONDO:0010922
name: Satoyoshi syndrome
def: "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates ( malabsorption ). People affected by Satoyoshi syndrome may also have loss of hair on the head and body ( alopecia universalis ), short stature , and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle ( amenorrhea ). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease . Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system ." [https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome]
subset: gard_rare {source="GARD:0000160"}
subset: ordo_disease {source="Orphanet:3130"}
synonym: "Komuragaeri disease" EXACT [OMIM:600705, Orphanet:3130]
synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" RELATED [GARD:0000160]
synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705]
synonym: "Satoyoshi syndrome" EXACT [OMIM:600705]
xref: GARD:0000160 {source="MONDO:equivalentTo"}
xref: MedDRA:10070579 {source="Orphanet:3130", source="ORDO:3130/e"}
xref: MESH:C536616 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3130", source="ORDO:3130/e"}
xref: OMIM:600705 {source="MONDO:equivalentTo", source="Orphanet:3130", source="ORDO:3130/e"}
xref: Orphanet:3130 {source="MONDO:equivalentTo", source="OMIM:600705"}
xref: SCTID:763630007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:600705", source="Orphanet:3130", source="ORDO:3130/e"}
is_a: MONDO:0000588 ! autoimmune disease of gastrointestinal tract
is_a: MONDO:0005020 {source="Orphanet:3130"} ! intestinal disease
is_a: MONDO:0015939 {source="Orphanet:3130"} ! systemic autoimmune disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019852 {source="Orphanet:3130"} ! inherited primary ovarian failure
is_a: MONDO:0021034 ! genetic alopecia
is_a: MONDO:0044338 ! autoimmune primary ovarian failure
property_value: exactMatch http://identifiers.org/meddra/10070579
property_value: exactMatch http://identifiers.org/mesh/C536616
property_value: exactMatch http://identifiers.org/omim/600705
property_value: exactMatch http://identifiers.org/snomedct/763630007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833454
property_value: exactMatch Orphanet:3130
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome xsd:anyURI {source="GARD:0000160"}

[Term]
id: MONDO:0010923
name: proximal myopathy with focal depletion of mitochondria
subset: ordo_disease
synonym: "proximal myopathy with focal depletion of mitochondria" EXACT [OMIM:600706]
xref: MESH:C563453 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600706 {source="MONDO:equivalentTo", source="Orphanet:521305"}
xref: Orphanet:521305 {source="MONDO:equivalentTo"}
xref: UMLS:C1833453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600706"}
is_a: MONDO:0016110 {source="Orphanet:521305"} ! non-dystrophic myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C563453
property_value: exactMatch http://identifiers.org/omim/600706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833453
property_value: exactMatch Orphanet:521305

[Term]
id: MONDO:0010924
name: D-2-hydroxyglutaric aciduria
def: "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." [Orphanet:79315]
subset: ordo_disease {source="Orphanet:79315"}
subset: prototype_pattern
synonym: "D-2-HGA" EXACT [Orphanet:79315]
synonym: "D-2-hydroxyglutaric acidemia" EXACT [Orphanet:79315]
synonym: "D-2-hydroxyglutaric aciduria 1" RELATED [MONDO:Lexical, OMIM:600721]
synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1, OMIM:600721]
synonym: "D2HA" RELATED [GARD:0005661]
synonym: "D2HGA" RELATED [MONDO:Lexical, OMIM:600721]
xref: DOID:0050575 {source="MONDO:equivalentTo"}
xref: GARD:0005661 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E72.8 {source="Orphanet:79315", source="ORDO:79315/attributed", source="ORDO:79315/ntbt"}
xref: OMIMPS:600721 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"}
xref: SCTID:237960000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN233040 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016001 {source="DOID:0050575", source="Orphanet:79315", source="linkedlifedata"} ! 2-hydroxyglutaric aciduria
property_value: exactMatch DOID:0050575
property_value: exactMatch http://identifiers.org/snomedct/237960000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN233040
property_value: exactMatch Orphanet:79315

[Term]
id: MONDO:0010925
name: velo-facial-skeletal syndrome
def: "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." [Orphanet:3424]
subset: ordo_malformation_syndrome {source="Orphanet:3424"}
synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736]
xref: GARD:0005469 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:3424", source="ORDO:3424/attributed", source="ORDO:3424/ntbt"}
xref: MESH:C536536 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600736 {source="Orphanet:3424", source="ORDO:3424/e", source="MONDO:equivalentTo"}
xref: Orphanet:3424 {source="MONDO:equivalentTo", source="OMIM:600736"}
xref: SCTID:763616002 {source="MONDO:equivalentTo"}
xref: UMLS:C1833380 {source="Orphanet:3424", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600736"}
is_a: MONDO:0015335 {source="Orphanet:3424"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3424"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536536
property_value: exactMatch http://identifiers.org/omim/600736
property_value: exactMatch http://identifiers.org/snomedct/763616002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833380
property_value: exactMatch Orphanet:3424

[Term]
id: MONDO:0010926
name: familial hypocalciuric hypercalcemia 3
def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:101050"}
synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878]
synonym: "familial benign hypercalcemia, type 3" RELATED [OMIM:600740]
synonym: "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" EXACT [MONDO:design_pattern]
synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1]
synonym: "FBH3" RELATED [GARD:0002878]
synonym: "FBHOk" RELATED [GARD:0002878]
synonym: "FHH type 3" EXACT [DOID:0060702, Orphanet:101050]
synonym: "HHC3" EXACT [DOID:0060702, MONDO:Lexical, OMIM:600740]
synonym: "hypercalcemia, familial benign, Oklahoma type" RELATED [OMIM:600740]
synonym: "hypercalcemia, familial benign, type 3" RELATED [OMIM:600740]
synonym: "hypocalciuric hypercalcemia type III" EXACT [DOID:0060702]
synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, OMIM:600740]
synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740]
synonym: "hypocalciuric hypercalcemia, familial, type III; HHC3" RELATED [OMIM:600740]
xref: DOID:0060702 {source="MONDO:equivalentTo"}
xref: GARD:0002878 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.5 {source="ORDO:101050/attributed", source="ORDO:101050/ntbt", source="Orphanet:101050", source="DOID:0060702"}
xref: MESH:C537147 {source="MONDO:equivalentTo", source="Orphanet:101050", source="MONDO:ontobio", source="ORDO:101050/e"}
xref: OMIM:600740 {source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702", source="ORDO:101050/e"}
xref: Orphanet:101050 {source="OMIM:600740", source="MONDO:equivalentTo", source="DOID:0060702"}
xref: UMLS:C1833372 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:600740", source="MONDO:equivalentTo", source="Orphanet:101050", source="ORDO:101050/e"}
is_a: MONDO:0018458 {source="DC-OMIM:600740", source="DOID:0060702", source="MONDO:Redundant", source="MONDOLEX:0010926", source="OMIM:600740", source="Orphanet:101050"} ! familial hypocalciuric hypercalcemia
property_value: exactMatch DOID:0060702
property_value: exactMatch http://identifiers.org/mesh/C537147
property_value: exactMatch http://identifiers.org/omim/600740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833372
property_value: exactMatch Orphanet:101050

[Term]
id: MONDO:0010927
name: orofacial cleft 3
synonym: "cleft lip with or without cleft palate, nonsyndromic, 3" RELATED [OMIM:600757]
synonym: "OFC3" EXACT [MONDO:Lexical, OMIM:600757]
synonym: "orofacial cleft 3" EXACT [MONDO:Lexical, OMIM:600757]
synonym: "orofacial cleft 3; OFC3" RELATED [OMIM:600757]
xref: MESH:C563448 {source="MONDO:equivalentTo"}
xref: OMIM:600757 {source="MONDO:equivalentTo"}
xref: UMLS:C1833369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600757"}
is_a: MONDO:0007336 ! isolated cleft palate
is_a: MONDO:0016043 ! isolated cleft lip
property_value: exactMatch http://identifiers.org/mesh/C563448
property_value: exactMatch http://identifiers.org/omim/600757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833369

[Term]
id: MONDO:0010928
name: dwarfism, familial, with muscle spasms
subset: gard_rare {source="GARD:0010610"}
synonym: "dwarfism familial with muscle spasms" RELATED [GARD:0010610]
synonym: "dwarfism, familial, with muscle spasms" EXACT [OMIM:600771]
synonym: "familial dwarfism and painful muscle spasms" RELATED [GARD:0010610]
xref: GARD:0010610 {source="MONDO:equivalentTo"}
xref: MESH:C563447 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600771 {source="MONDO:equivalentTo"}
xref: UMLS:C1833341 {source="OMIM:600771", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563447/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563447
property_value: exactMatch http://identifiers.org/omim/600771
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833341
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms xsd:anyURI {source="GARD:0010610"}

[Term]
id: MONDO:0010929
name: craniosynostosis 4
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis 4" EXACT [MONDO:Lexical, OMIM:600775]
synonym: "craniosynostosis 4; CRS4" RELATED [OMIM:600775]
synonym: "craniosynostosis caused by mutation in ERF" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 4" EXACT [MONDORULE:1, OMIM:600775]
synonym: "CRS4" RELATED [MONDO:Lexical, OMIM:600775]
synonym: "ERF craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:600775 {source="MONDO:equivalentTo"}
xref: UMLS:C3806917 {source="MONDO:equivalentTo", source="OMIM:600775"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MONDO:Redundant", source="MONDOLEX:0010929", source="OMIM:600775"} ! craniosynostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833340
property_value: exactMatch http://identifiers.org/omim/600775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806917

[Term]
id: MONDO:0010930
name: anophthalmia plus syndrome
def: "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." [Orphanet:1104]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1104"}
synonym: "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder" RELATED [GARD:0000719]
synonym: "anophthalmia-plus syndrome" RELATED [OMIM:600776]
synonym: "Fryns anophthalmia syndrome" RELATED [GARD:0000719]
synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104]
synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719]
synonym: "microphthalmia with facial clefting" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104]
xref: GARD:0000719 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1104/attributed", source="ORDO:1104/ntbt", source="Orphanet:1104"}
xref: MESH:C537767 {source="ORDO:1104/e", source="MONDO:equivalentTo", source="Orphanet:1104", source="MONDO:ontobio"}
xref: OMIM:600776 {source="GARD:0000719", source="ORDO:1104/e", source="MONDO:equivalentTo", source="Orphanet:1104"}
xref: Orphanet:1104 {source="GARD:0000719", source="MONDO:equivalentTo", source="OMIM:600776"}
xref: SCTID:720496006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1833339 {source="GARD:0000719", source="ORDO:1104/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600776", source="Orphanet:1104"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="https://github.com/monarch-initiative/mondo/issues/140"} ! syndromic disease
is_a: MONDO:0043008 {source="Orphanet:1104"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537767
property_value: exactMatch http://identifiers.org/omim/600776
property_value: exactMatch http://identifiers.org/snomedct/720496006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833339
property_value: exactMatch Orphanet:1104
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome xsd:anyURI {source="GARD:0000719"}

[Term]
id: MONDO:0010931
name: vitamin D-dependent rickets, type 2B
def: "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." [NCIT:C131076, PMID:17071612]
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia" EXACT [NCIT:C131076]
synonym: "VDDR2B" RELATED [MONDO:Lexical, OMIM:600785]
synonym: "vitamin D dependent rickets 2b" EXACT [NCIT:C131076]
synonym: "vitamin D receptor signaling defect rickets" EXACT [NCIT:C131076]
synonym: "vitamin D resistant rickets" EXACT [NCIT:C131076]
synonym: "vitamin D-dependent rickets type II without alopecia" EXACT [MONDO:cjm]
synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical, OMIM:600785]
synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor; VDDR2B" RELATED [OMIM:600785]
xref: NCIT:C131076 {source="MONDO:equivalentTo"}
xref: OMIM:600785 {source="MONDO:equivalentTo"}
xref: SCTID:237895001 {source="MONDO:equivalentTo"}
xref: UMLS:C2748783 {source="OMIM:600785", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019642 {source="MONDOLEX:0010931", source="ORDO:93160/btnt", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2
property_value: exactMatch http://identifiers.org/omim/600785
property_value: exactMatch http://identifiers.org/snomedct/237895001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748783
property_value: exactMatch NCIT:C131076

[Term]
id: MONDO:0010932
name: progressive bifocal chorioretinal atrophy
def: "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." [Orphanet:75373]
subset: gard_rare {source="GARD:0010123"}
subset: ordo_disease {source="Orphanet:75373"}
synonym: "chorioretinal atrophy, progressive bifocal" RELATED [OMIM:600790]
synonym: "CRAPB" EXACT [Orphanet:75373]
synonym: "Crapb" RELATED [OMIM:600790]
synonym: "PBCRA" EXACT [Orphanet:75373]
synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790]
xref: GARD:0010123 {source="MONDO:equivalentTo"}
xref: MESH:C535356 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:75373/e", source="Orphanet:75373"}
xref: OMIM:600790 {source="MONDO:equivalentTo", source="ORDO:75373/e", source="Orphanet:75373"}
xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"}
xref: SCTID:719266007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:75373/e", source="Orphanet:75373", source="OMIM:600790"}
is_a: MONDO:0019118 {source="Orphanet:75373", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C535356
property_value: exactMatch http://identifiers.org/omim/600790
property_value: exactMatch http://identifiers.org/snomedct/719266007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833321
property_value: exactMatch Orphanet:75373
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy xsd:anyURI {source="GARD:0010123"}

[Term]
id: MONDO:0010933
name: autosomal recessive nonsyndromic deafness 4
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22." [DOID:0110498, PMID:9500541]
synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" EXACT [DOID:0110498]
synonym: "autosomal recessive nonsyndromic deafness type 4" EXACT [DOID:0110498, MONDORULE:1]
synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" RELATED [MONDO:Lexical, OMIM:600791]
synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DFNB4" RELATED [OMIM:600791]
synonym: "DFNB4" EXACT [DOID:0110498, MONDO:Lexical, OMIM:600791]
synonym: "dilated vestibular aqueduct" RELATED [OMIM:600791]
synonym: "neurosensory nonsyndromic recessive deafness 4" RELATED [OMIM:600791]
xref: DOID:0110498 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110498"}
xref: MESH:C566366 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600791 {source="MONDO:equivalentTo", source="DOID:0110498"}
is_a: MONDO:0019588 {source="DC-OMIM:600791", source="DOID:0110498", source="MONDO:Redundant", source="OMIM:600791"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863752
property_value: exactMatch DOID:0110498
property_value: exactMatch http://identifiers.org/mesh/C566366
property_value: exactMatch http://identifiers.org/omim/600791

[Term]
id: MONDO:0010934
name: obsolete DFNB5
is_obsolete: true
replaced_by: MONDO:0000912

[Term]
id: MONDO:0010935
name: neuronopathy, distal hereditary motor, type 5A
synonym: "dHMN 5A" RELATED [OMIM:600794]
synonym: "HMN 5A" RELATED [OMIM:600794]
synonym: "HMN5A" RELATED [MONDO:Lexical, OMIM:600794]
synonym: "neuronopathy, distal hereditary motor, type 5" RELATED [OMIM:600794]
synonym: "neuronopathy, distal hereditary motor, type VA" RELATED [MONDO:Lexical, OMIM:600794]
synonym: "neuronopathy, distal hereditary motor, type VA; HMN5A" RELATED [OMIM:600794]
synonym: "neuropathy, distal hereditary motor, type 5A" RELATED [OMIM:600794]
synonym: "spinal muscular atrophy, distal, type 5" RELATED [OMIM:600794]
synonym: "spinal muscular atrophy, distal, type 5A" RELATED [OMIM:600794]
synonym: "spinal muscular atrophy, distal, with upper limb predominance" RELATED [OMIM:600794]
xref: OMIM:600794 {source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:600794"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015353 {source="ORDO:139536/btnt"} ! distal hereditary motor neuropathy type 5
property_value: exactMatch http://identifiers.org/omim/600794

[Term]
id: MONDO:0010936
name: frontotemporal dementia, chromosome 3-linked
synonym: "dementia, familial nonspecific" RELATED [OMIM:600795]
synonym: "Dmt1" RELATED [OMIM:600795]
synonym: "frontotemporal dementia, chromosome 3-linked" EXACT [MONDO:Lexical, OMIM:600795]
synonym: "frontotemporal dementia, chromosome 3-linked; FTD3" RELATED [OMIM:600795]
synonym: "FTD3" RELATED [MONDO:Lexical, OMIM:600795]
xref: ICD9:331.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C579991 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600795 {source="MONDO:equivalentTo"}
xref: SCTID:702393003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C1833296 {source="NCBI:mim2gene_medline", source="OMIM:600795", source="MONDO:equivalentTo"}
is_a: MONDO:0017160 {source="ORDO:275864/btnt"} ! behavioral variant of frontotemporal dementia
property_value: exactMatch http://identifiers.org/mesh/C579991
property_value: exactMatch http://identifiers.org/omim/600795
property_value: exactMatch http://identifiers.org/snomedct/702393003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833296

[Term]
id: MONDO:0010937
name: isoproterenol-mediated vasodilatation
synonym: "isoproterenol-mediated vasodilatation" EXACT [OMIM:600801]
xref: OMIM:600801 {source="MONDO:equivalentTo"}
xref: UMLS:C1833276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600801"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/600801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833276

[Term]
id: MONDO:0010938
name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
def: "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:35078]
subset: ordo_disease {source="Orphanet:35078"}
synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:600802]
synonym: "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency" RELATED []
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" RELATED [OMIM:600802]
synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078]
synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT []
xref: ICD10:D81.2 {source="ORDO:35078/attributed", source="ORDO:35078/ntbt", source="Orphanet:35078"}
xref: MESH:C563440 {source="MONDO:equivalentTo"}
xref: OMIM:600802 {source="MONDO:equivalentTo", source="ORDO:35078/e", source="Orphanet:35078"}
xref: Orphanet:35078 {source="MONDO:equivalentTo", source="OMIM:600802"}
xref: SCTID:718107000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600802"}
xref: UMLS:C4273742 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="MONDOLEX:0010938", source="Orphanet:35078"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C563440
property_value: exactMatch http://identifiers.org/omim/600802
property_value: exactMatch http://identifiers.org/snomedct/718107000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833275
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273742
property_value: exactMatch Orphanet:35078

[Term]
id: MONDO:0010939
name: low phospholipid associated cholelithiasis
def: "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." [Orphanet:69663]
subset: ordo_disease {source="Orphanet:69663"}
synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [Orphanet:69663]
synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [Orphanet:69663]
synonym: "cholelithiasis, Low phospholipid-associated" RELATED [OMIM:600803]
synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803]
synonym: "gallbladder disease 1; GBD1" RELATED [OMIM:600803]
synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803]
synonym: "GBD1" RELATED [MONDO:Lexical, OMIM:600803]
synonym: "LPAC" EXACT [Orphanet:69663]
xref: MedDRA:10068936 {source="ORDO:69663/e", source="Orphanet:69663"}
xref: OMIM:600803 {source="MONDO:equivalentTo", source="ORDO:69663/e", source="Orphanet:69663"}
xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"}
xref: SCTID:715577009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.20"}
xref: UMLS:C2609268 {source="MONDO:equivalentTo", source="ORDO:69663/e", source="OMIM:600803", source="Orphanet:69663"}
is_a: MONDO:0002155 {source="OMIM:600803"} ! cholecystitis
is_a: MONDO:0015509 {source="Orphanet:69663"} ! genetic biliary tract disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008325
property_value: exactMatch http://identifiers.org/meddra/10068936
property_value: exactMatch http://identifiers.org/omim/600803
property_value: exactMatch http://identifiers.org/snomedct/715577009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609268
property_value: exactMatch Orphanet:69663

[Term]
id: MONDO:0010940
name: inherited susceptibility to asthma
subset: predisposition
synonym: "asthma, bronchial" RELATED [OMIM:600807]
synonym: "asthma, diminished response to Antileukotriene treatment 1N" RELATED [OMIM:600807]
synonym: "asthma, protection against" RELATED [OMIM:600807]
synonym: "asthma, susceptibility to" RELATED [OMIM:600807]
synonym: "asthma-related traits, susceptibility to" RELATED [OMIM:600807]
xref: OMIM:600807 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0004979 ! asthma
relationship: predisposes_towards MONDO:0004979 ! asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833269
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833270
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869116
property_value: exactMatch http://identifiers.org/omim/600807

[Term]
id: MONDO:0010941
name: nocturnal enuresis, 2
def: "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred." []
synonym: "ENUR2" RELATED [MONDO:Lexical, OMIM:600808]
synonym: "enuresis, nocturnal, 2" RELATED [MONDO:Lexical, OMIM:600808]
synonym: "enuresis, nocturnal, 2; ENUR2" RELATED [OMIM:600808]
xref: MESH:C563439 {source="MONDO:equivalentTo"}
xref: OMIM:600808 {source="MONDO:equivalentTo"}
xref: UMLS:C1833268 {source="OMIM:600808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000022 {source="DC-OMIM:600808", source="MONDOLEX:0010941"} ! nocturnal enuresis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563439
property_value: exactMatch http://identifiers.org/omim/600808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833268

[Term]
id: MONDO:0010942
name: obsolete eukaryotic translation elongation factor 1 alpha-1-like 14
synonym: "EEF1A1L14" RELATED [MONDO:Lexical, OMIM:600841]
synonym: "eukaryotic translation elongation factor 1 ALPHA-1-like 14" RELATED [MONDO:Lexical, OMIM:600841]
synonym: "eukaryotic translation elongation factor 1 ALPHA-1-like 14; EEF1A1L14" RELATED [OMIM:600841]
synonym: "eukaryotic translation elongation Factor 1 Alpha-1-like type 14" EXACT [MONDORULE:2, OMIM:600841]
synonym: "prostatic carcinoma tumor-inducing Gene 1" RELATED [OMIM:600841]
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833249
is_obsolete: true
consider: OMIM:600841

[Term]
id: MONDO:0010943
name: schizophrenia 4
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21." [DOID:0070080]
synonym: "schizophrenia 4" EXACT [MONDO:Lexical, OMIM:600850]
synonym: "schizophrenia 4; SCZD4" RELATED [OMIM:600850]
synonym: "schizophrenia susceptibility locus, chromosome 22Q11-related" RELATED [OMIM:600850]
synonym: "schizophrenia type 4" EXACT [MONDORULE:1, OMIM:600850]
synonym: "SCZD4" EXACT [DOID:0070080, MONDO:Lexical, OMIM:600850]
xref: DOID:0070080 {source="MONDO:equivalentTo"}
xref: OMIM:600850 {source="MONDO:equivalentTo", source="DOID:0070080"}
xref: UMLS:C1833247 {source="NCBI:mim2gene_medline", source="OMIM:600850", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:600850", source="DOID:0070080", source="MONDO:Redundant"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070080
property_value: exactMatch http://identifiers.org/omim/600850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833247

[Term]
id: MONDO:0010944
name: mitochondrial import-stimulating factor
synonym: "mitochondrial import-stimulating factor" EXACT [OMIM:600851]
synonym: "MSF" RELATED [OMIM:600851]
xref: OMIM:600851 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833246
property_value: exactMatch http://identifiers.org/omim/600851

[Term]
id: MONDO:0010945
name: retinitis pigmentosa 17
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010387"}
synonym: "CA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 17" EXACT [MONDO:Lexical, OMIM:600852]
synonym: "retinitis pigmentosa 17; RP17" RELATED [OMIM:600852]
synonym: "retinitis pigmentosa caused by mutation in CA4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 17" EXACT [DOID:0110404, MONDORULE:2, OMIM:600852]
synonym: "RP 17" RELATED [GARD:0010387]
synonym: "RP17" EXACT [DOID:0110404, MONDO:Lexical, OMIM:600852]
xref: DOID:0110404 {source="MONDO:equivalentTo"}
xref: GARD:0010387 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110404", source="MONDO:relatedTo"}
xref: MESH:C563437 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600852 {source="DOID:0110404", source="MONDO:equivalentTo"}
xref: UMLS:C1833245 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600852"}
is_a: MONDO:0019200 {source="DC-OMIM:600852", source="DOID:0110404", source="MESH:C563437", source="MONDO:Redundant", source="OMIM:600852"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110404
property_value: exactMatch http://identifiers.org/mesh/C563437
property_value: exactMatch http://identifiers.org/omim/600852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833245
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17 xsd:anyURI {source="GARD:0010387"}

[Term]
id: MONDO:0010946
name: hypertrophic cardiomyopathy 6
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial hypertrophic 6" EXACT [DOID:0110312]
synonym: "cardiomyopathy, familial hypertrophic, 6" RELATED [MONDO:Lexical, OMIM:600858]
synonym: "cardiomyopathy, familial hypertrophic, 6; CMH6" RELATED [OMIM:600858]
synonym: "cardiomyopathy, familial hypertrophic, type 6" EXACT [MONDORULE:1, OMIM:600858]
synonym: "CMH6" EXACT [DOID:0110312, MONDO:Lexical, OMIM:600858]
synonym: "hypertrophic cardiomyopathy caused by mutation in PRKAG2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 6" EXACT [DOID:0110312, MONDORULE:1]
synonym: "PRKAG2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110312 {source="MONDO:equivalentTo"}
xref: MESH:C563436 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600858 {source="MONDO:equivalentTo", source="DOID:0110312"}
xref: UMLS:C1833236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600858"}
is_a: MONDO:0024573 {source="MESH:C563436", source="MONDOLEX:0010946", source="OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110312
property_value: exactMatch http://identifiers.org/mesh/C563436
property_value: exactMatch http://identifiers.org/omim/600858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833236

[Term]
id: MONDO:0010947
name: Budd-Chiari syndrome
def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." [Orphanet:131]
subset: gard_rare {source="GARD:0005968"}
subset: ordo_disease {source="Orphanet:131"}
synonym: "BDCHS" RELATED [MONDO:Lexical, OMIM:600880]
synonym: "Budd-Chiari syndrome" EXACT [MONDO:Lexical, OMIM:600880]
synonym: "Budd-Chiari syndrome; BDCHS" RELATED [OMIM:600880]
synonym: "membranous obstruction of Inferior vena cava" RELATED [OMIM:600880]
synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:0005968]
xref: COHD:196715 {source="MONDO:equivalentTo"}
xref: GARD:0005968 {source="MONDO:equivalentTo"}
xref: ICD10:I82.0 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"}
xref: ICD9:453.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10006537 {source="ORDO:131/e", source="Orphanet:131"}
xref: MESH:D006502 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"}
xref: OMIM:600880 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"}
xref: Orphanet:131 {source="OMIM:600880", source="MONDO:equivalentTo"}
xref: SCTID:82385007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.12"}
xref: UMLS:C0856761 {source="OMIM:600880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"}
is_a: MONDO:0002405 ! hepatic vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019154
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546323
property_value: exactMatch http://identifiers.org/meddra/10006537
property_value: exactMatch http://identifiers.org/mesh/D006502
property_value: exactMatch http://identifiers.org/omim/600880
property_value: exactMatch http://identifiers.org/snomedct/82385007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856761
property_value: exactMatch Orphanet:131
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome xsd:anyURI {source="GARD:0005968"}

[Term]
id: MONDO:0010948
name: cataract 10 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 10, multiple types" RELATED [MONDO:Lexical, OMIM:600881]
synonym: "cataract 10, multiple types; CTRCT10" RELATED [OMIM:600881]
synonym: "cataract, congenital zonular, with sutural opacities" RELATED [OMIM:600881]
synonym: "CCZS" NARROW [DOID:0110258]
synonym: "congenital zonular cataract with sutural opacities" NARROW [DOID:0110258]
synonym: "CRYBA1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT10" EXACT [DOID:0110258, MONDO:Lexical, OMIM:600881]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA1" EXACT [MONDO:design_pattern]
xref: DOID:0110258 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110258"}
xref: MESH:C563435 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600881 {source="DOID:0110258", source="MONDO:equivalentTo"}
xref: UMLS:C1833229 {source="OMIM:600881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110258
property_value: exactMatch http://identifiers.org/mesh/C563435
property_value: exactMatch http://identifiers.org/omim/600881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833229

[Term]
id: MONDO:0010949
name: Charcot-Marie-Tooth disease type 2B
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." [Orphanet:99936]
subset: gard_rare {source="GARD:0009192"}
subset: ordo_disease {source="Orphanet:99936"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159]
synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [OMIM:600882]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical, OMIM:600882]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B; CMT2B" RELATED [OMIM:600882]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B" RELATED [GARD:0009192]
synonym: "Charcot-Marie-Tooth neuropathy type 2B" EXACT [DOID:0110159]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B" RELATED [OMIM:600882]
synonym: "CMT 2B" RELATED [GARD:0009192]
synonym: "CMT2B" EXACT [DOID:0110159, MONDO:Lexical, OMIM:600882, Orphanet:99936]
synonym: "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" RELATED [GARD:0009192]
synonym: "hereditary motor and sensory neuropathy 2B" RELATED [OMIM:600882]
synonym: "hereditary motor and sensory nueropathy IIB" EXACT [DOID:0110159]
synonym: "HMSN IIB" EXACT [DOID:0110159]
synonym: "HMSN2B" EXACT [DOID:0110159]
synonym: "HMSN2B" RELATED [OMIM:600882]
synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192]
synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110159 {source="MONDO:equivalentTo"}
xref: GARD:0009192 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110159", source="ORDO:99936/attributed", source="ORDO:99936/ntbt", source="Orphanet:99936"}
xref: MESH:C537989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600882 {source="DOID:0110159", source="ORDO:99936/e", source="MONDO:equivalentTo", source="Orphanet:99936"}
xref: Orphanet:99936 {source="DOID:0110159", source="OMIM:600882", source="MONDO:equivalentTo"}
xref: SCTID:717008005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833219 {source="MEDGEN:kboom-pr98-c99", source="OMIM:600882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99936"}
is_a: MONDO:0018993 {source="DOID:0110159", source="MONDO:Redundant", source="Orphanet:99936"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110159
property_value: exactMatch http://identifiers.org/mesh/C537989
property_value: exactMatch http://identifiers.org/omim/600882
property_value: exactMatch http://identifiers.org/snomedct/717008005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833219
property_value: exactMatch Orphanet:99936
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b xsd:anyURI {source="GARD:0009192"}

[Term]
id: MONDO:0010950
name: type 1 diabetes mellitus 8
def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27." [DOID:0110747, PMID:7573053]
synonym: "diabetes mellitus, insulin-dependent, 8" RELATED [MONDO:Lexical, OMIM:600883]
synonym: "diabetes mellitus, insulin-dependent, 8; IDDM8" RELATED [OMIM:600883]
synonym: "IDDM8" EXACT [DOID:0110747, MONDO:Lexical, OMIM:600883]
synonym: "insulin-dependent diabetes mellitus 8" EXACT [DOID:0110747, OMIM:600883]
xref: DOID:0110747 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110747"}
xref: MESH:C563433 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600883 {source="DOID:0110747", source="MONDO:equivalentTo"}
xref: UMLS:C1833218 {source="NCBI:mim2gene_medline", source="OMIM:600883", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:600883", source="DOID:0110747", source="MESH:C563433", source="MONDOLEX:0010950"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110747
property_value: exactMatch http://identifiers.org/mesh/C563433
property_value: exactMatch http://identifiers.org/omim/600883
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833218

[Term]
id: MONDO:0010951
name: dilated cardiomyopathy 1B
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13." [DOID:0110443, PMID:7573045]
synonym: "cardiomyopathy, dilated, 1B" RELATED [MONDO:Lexical, OMIM:600884]
synonym: "cardiomyopathy, dilated, 1B; CMD1B" RELATED [OMIM:600884]
synonym: "cardiomyopathy, familial dilated" RELATED [OMIM:600884]
synonym: "cardiomyopathy, familial dilated, 1" RELATED [OMIM:600884]
synonym: "CMD1B" EXACT EXCLUDE [DOID:0110443]
synonym: "CMD1B" RELATED [MONDO:Lexical, OMIM:600884]
synonym: "dilated cardiomyopathy type 1B" EXACT [DOID:0110443, MONDORULE:4]
xref: DOID:0110443 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110443"}
xref: OMIM:600884 {source="MONDO:equivalentTo", source="DOID:0110443"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868673
property_value: exactMatch DOID:0110443
property_value: exactMatch http://identifiers.org/omim/600884

[Term]
id: MONDO:0010952
name: hereditary hyperferritinemia with congenital cataracts
def: "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." [Orphanet:163]
subset: ordo_disease {source="Orphanet:163"}
synonym: "Bonneau-Beaumont syndrome" EXACT [Orphanet:163]
synonym: "cataract-hyperferritinemia syndrome" RELATED [GARD:0002806]
synonym: "hereditary hyperferritinemia cataract syndrome" RELATED [GARD:0002806]
synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [Orphanet:163]
synonym: "HHCS" EXACT [Orphanet:163]
synonym: "HRFTC" RELATED [OMIM:600886]
synonym: "hyperferritinemia cataract syndrome" RELATED [GARD:0002806]
synonym: "hyperferritinemia with or without cataract" RELATED [OMIM:600886]
synonym: "hyperferritinemia with or without cataract; HRFTC" RELATED [OMIM:600886]
synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMIM:600886]
synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886]
xref: GARD:0002806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H26.0 {source="ORDO:163/attributed", source="ORDO:163/ntbt", source="Orphanet:163"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:366.44 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538137 {source="MONDO:equivalentTo", source="ORDO:163/e", source="MONDO:ontobio", source="Orphanet:163"}
xref: OMIM:600886 {source="MONDO:equivalentTo", source="ORDO:163/e", source="Orphanet:163"}
xref: Orphanet:163 {source="MONDO:equivalentTo", source="OMIM:600886"}
xref: SCTID:702398007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.09"}
xref: UMLS:C1833213 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600886", source="ORDO:163/e", source="Orphanet:163"}
is_a: MONDO:0020225 {source="Orphanet:163"} ! syndromic cataract
is_a: MONDO:0020280 {source="Orphanet:163"} ! metabolic disease with cataract
property_value: exactMatch http://identifiers.org/mesh/C538137
property_value: exactMatch http://identifiers.org/omim/600886
property_value: exactMatch http://identifiers.org/snomedct/702398007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833213
property_value: exactMatch Orphanet:163

[Term]
id: MONDO:0010953
name: Fanconi anemia complementation group E
def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." [NCIT:C125709]
synonym: "face" EXACT [DOID:0111084, OMIM:600901]
synonym: "FANCE" EXACT [DOID:0111084, MONDO:Lexical, OMIM:600901]
synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1]
synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical, OMIM:600901]
synonym: "Fanconi anemia, complementation group E; FANCE" RELATED [OMIM:600901]
synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1, OMIM:600901]
xref: DOID:0111084 {source="MONDO:equivalentTo"}
xref: NCIT:C125709 {source="MONDO:equivalentTo"}
xref: OMIM:600901 {source="MONDO:equivalentTo", source="DOID:0111084"}
xref: UMLS:C3160739 {source="NCBI:mim2gene_medline", source="NCIT:C125709", source="MONDO:equivalentTo", source="OMIM:600901"}
is_a: MONDO:0019391 {source="DC-OMIM:600901", source="DOID:0111084", source="MONDO:Redundant", source="NCIT:C125709", source="OMIM:600901"} ! Fanconi anemia
property_value: exactMatch DOID:0111084
property_value: exactMatch http://identifiers.org/omim/600901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160739
property_value: exactMatch NCIT:C125709

[Term]
id: MONDO:0010954
name: Wiskott-Aldrich syndrome, autosomal dominant form
synonym: "Wiskott-Aldrich syndrome, autosomal dominant form" EXACT [OMIM:600903]
xref: MESH:C563431 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600903 {source="MONDO:equivalentTo"}
xref: UMLS:C1833170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600903"}
is_a: MONDO:0010518 {source="MESH:C563431", source="ORDO:906/btnt"} ! Wiskott-Aldrich syndrome
property_value: exactMatch http://identifiers.org/mesh/C563431
property_value: exactMatch http://identifiers.org/omim/600903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833170

[Term]
id: MONDO:0010955
name: ectodermal dysplasia with intellectual disability and syndactyly
subset: clingen
synonym: "ectodermal dysplasia mental retardation syndactyly" RELATED [GARD:0002052]
synonym: "ectodermal dysplasia with mental retardation and syndactyly" EXACT [OMIM:600906]
xref: GARD:0002052 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600906 {source="MONDO:equivalentTo"}
xref: UMLS:C1833169 {source="OMIM:600906", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538018/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538018
property_value: exactMatch http://identifiers.org/omim/600906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833169

[Term]
id: MONDO:0010956
name: enamel hypoplasia, cataracts, and aqueductal stenosis
synonym: "enamel hypoplasia, capsular cataracts, and ductal stenosis" RELATED [GARD:0004801]
synonym: "enamel hypoplasia, cataracts, and aqueductal stenosis" EXACT [OMIM:600907]
synonym: "Seow Najjar syndrome" RELATED [GARD:0004801]
xref: GARD:0004801 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600907 {source="MONDO:equivalentTo"}
xref: UMLS:C1833163 {source="OMIM:600907", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563430
property_value: exactMatch http://identifiers.org/omim/600907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833163

[Term]
id: MONDO:0010957
name: agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
synonym: "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations" EXACT [OMIM:600908]
synonym: "KENNERKNECHT syndrome" RELATED [OMIM:600908]
synonym: "Kennerknecht syndrome" RELATED [OMIM:600908]
xref: OMIM:600908 {source="MONDO:equivalentTo"}
xref: UMLS:C1833162 {source="OMIM:600908", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/600908
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833162

[Term]
id: MONDO:0010958
name: cardiac arrhythmia, ankyrin-b-related
synonym: "ankyrin-B syndrome" RELATED [OMIM:600919]
synonym: "cardiac arrhythmia, ankyrin-b-related" EXACT [OMIM:600919]
synonym: "long QT syndrome 4" RELATED [OMIM:600919]
synonym: "LQT4" RELATED [GARD:0010432]
xref: GARD:0010432 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600919 {source="MONDO:equivalentTo"}
xref: SCTID:764457005 {source="MONDO:equivalentTo"}
xref: UMLS:C1970119 {source="OMIM:600919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:600919", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833154
property_value: exactMatch http://identifiers.org/omim/600919
property_value: exactMatch http://identifiers.org/snomedct/764457005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970119

[Term]
id: MONDO:0010959
name: van den Ende-Gupta syndrome
def: "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." [Orphanet:2460]
subset: ordo_malformation_syndrome {source="Orphanet:2460"}
synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [OMIM:600920]
synonym: "Marden Walker like syndrome" RELATED [GARD:0003382]
synonym: "Marden Walker like syndrome without psychomotor retardation" RELATED [GARD:0003382]
synonym: "Marden-Walker-like syndrome" EXACT [Orphanet:2460]
synonym: "Marden-Walker-like syndrome without psychomotor retardation" RELATED [OMIM:600920]
synonym: "Van den Ende Gupta syndrome" RELATED [GARD:0003382]
synonym: "van den Ende-Gupta syndrome" EXACT [MONDO:Lexical, OMIM:600920]
synonym: "VAN DEN Ende-Gupta syndrome; VDEGS" RELATED [OMIM:600920]
synonym: "VDEGS" EXACT [MONDO:Lexical, OMIM:600920, Orphanet:2460]
xref: GARD:0003382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:2460/attributed", source="ORDO:2460/ntbt", source="Orphanet:2460"}
xref: MESH:C535909 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600920 {source="MONDO:equivalentTo", source="ORDO:2460/e", source="Orphanet:2460"}
xref: Orphanet:2460 {source="MONDO:equivalentTo", source="OMIM:600920"}
xref: SCTID:719845008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1833136 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600920", source="Orphanet:2460"}
is_a: MONDO:0015168 {source="Orphanet:2460"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015501 {source="Orphanet:2460"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2460"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535909
property_value: exactMatch http://identifiers.org/omim/600920
property_value: exactMatch http://identifiers.org/snomedct/719845008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833136
property_value: exactMatch Orphanet:2460

[Term]
id: MONDO:0010960
name: protocadherin 3
synonym: "Pcdh3" RELATED [OMIM:600931]
synonym: "protocadherin 3" EXACT [OMIM:600931]
synonym: "protocadherin type 3" EXACT [MONDORULE:1, OMIM:600931]
xref: OMIM:600931 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833117
property_value: exactMatch http://identifiers.org/omim/600931

[Term]
id: MONDO:0010961
name: obesity due to prohormone convertase i deficiency
def: "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." [Orphanet:71528]
subset: ordo_disease {source="Orphanet:71528"}
synonym: "obesity and endocrinopathy due to impaired processing of Prohormones" RELATED [OMIM:600955]
synonym: "PCI deficiency" EXACT [Orphanet:71528]
synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955]
xref: ICD10:E66.8 {source="ORDO:71528/attributed", source="ORDO:71528/ntbt", source="Orphanet:71528"}
xref: MESH:C563423 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600955 {source="MONDO:equivalentTo", source="ORDO:71528/e", source="Orphanet:71528"}
xref: Orphanet:71528 {source="MONDO:equivalentTo", source="OMIM:600955"}
xref: SCTID:722053001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1833053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600955"}
xref: UMLS:C4302878 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015825 {source="Orphanet:71528"} ! obesity due to congenital leptin resistance
is_a: MONDO:0015891 {source="Orphanet:71528"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism
property_value: exactMatch http://identifiers.org/mesh/C563423
property_value: exactMatch http://identifiers.org/omim/600955
property_value: exactMatch http://identifiers.org/snomedct/722053001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302878
property_value: exactMatch Orphanet:71528

[Term]
id: MONDO:0010962
name: diffuse nonepidermolytic palmoplantar keratoderma
subset: ordo_disease
synonym: "diffuse NEPPK" RELATED [GARD:0005186]
synonym: "diffuse nonepidermolytic palmoplantar keratoderma" RELATED [GARD:0005186]
synonym: "keratoderma, nonepidermolytic palmoplantar" RELATED [OMIM:600962]
synonym: "krt1-related diffuse nonepidermolytic keratoderma" EXACT [Orphanet:530838]
synonym: "NEPPK" RELATED [MONDO:Lexical, OMIM:600962]
synonym: "nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:600962]
synonym: "palmoplantar keratoderma, nonepidermolytic" EXACT [MONDO:Lexical, OMIM:600962]
synonym: "palmoplantar keratoderma, nonepidermolytic; NEPPK" RELATED [OMIM:600962]
synonym: "PPK diffusa circumscripta" RELATED [GARD:0005186]
synonym: "PPKNE" RELATED [OMIM:600962]
synonym: "Thost-Unna disease" RELATED [GARD:0005186, PMID:7531539]
synonym: "Thost-Unna palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539]
synonym: "tylosis" RELATED [OMIM:600962]
synonym: "Unna-Thost palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539]
xref: GARD:0005186 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600962 {source="MONDO:equivalentTo", source="Orphanet:530838"}
xref: Orphanet:496 {source="MONDO:obsoleteEquivalent", source="OMIM:600962"}
xref: Orphanet:530838 {source="MONDO:equivalentTo"}
is_a: MONDO:0006588 {source="DC-OMIM:600962"} ! nonepidermolytic palmoplantar keratoderma
is_a: MONDO:0020093 {source="Orphanet:530838"} ! autosomal dominant isolated diffuse palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833030
property_value: exactMatch http://identifiers.org/omim/600962
property_value: exactMatch Orphanet:496
property_value: exactMatch Orphanet:530838

[Term]
id: MONDO:0010963
name: autosomal dominant nonsyndromic deafness 6
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 14" EXACT [DOID:0110584]
synonym: "autosomal dominant deafness 38" EXACT [DOID:0110584]
synonym: "autosomal dominant deafness 6" EXACT [DOID:0110584]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in WFS1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 6" EXACT [DOID:0110584, MONDORULE:1]
synonym: "deafness, autosomal dominant 14" RELATED [OMIM:600965]
synonym: "deafness, autosomal dominant 38" RELATED [OMIM:600965]
synonym: "deafness, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:600965]
synonym: "deafness, autosomal dominant 6; DFNA6" RELATED [OMIM:600965]
synonym: "deafness, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:600965]
synonym: "DFNA14" EXACT [DOID:0110584]
synonym: "DFNA38" EXACT [DOID:0110584]
synonym: "DFNA6" EXACT [DOID:0110584, MONDO:Lexical, OMIM:600965]
synonym: "WFS1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110584 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110584"}
xref: MESH:C563421 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600965 {source="MONDO:equivalentTo", source="DOID:0110584"}
xref: UMLS:C1833021 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600965"}
is_a: MONDO:0019587 {source="DC-OMIM:600965", source="DOID:0110584", source="MONDO:Redundant", source="OMIM:600965"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110584
property_value: exactMatch http://identifiers.org/mesh/C563421
property_value: exactMatch http://identifiers.org/omim/600965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833021

[Term]
id: MONDO:0010964
name: epiphyseal dysplasia, multiple, 3
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009792"}
synonym: "COL9A3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM3" RELATED [MONDO:Lexical, OMIM:600969]
synonym: "epiphyseal dysplasia multiple 3" RELATED [GARD:0009792]
synonym: "epiphyseal dysplasia, multiple, 3" EXACT [MONDO:Lexical, OMIM:600969]
synonym: "epiphyseal dysplasia, multiple, 3, with myopathy" RELATED [OMIM:600969]
synonym: "epiphyseal dysplasia, multiple, 3; EDM3" RELATED [OMIM:600969]
synonym: "epiphyseal dysplasia, multiple, type 3" EXACT [MONDORULE:1, OMIM:600969]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3" EXACT []
synonym: "multiple epiphyseal dysplasia 3" RELATED [GARD:0009792]
xref: DOID:0070304 {source="MONDO:equivalentTo"}
xref: GARD:0009792 {source="MONDO:equivalentTo"}
xref: MESH:C535503 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600969 {source="MONDO:equivalentTo"}
xref: UMLS:C1832998 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600969"}
is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152083
property_value: exactMatch DOID:0070304
property_value: exactMatch http://identifiers.org/mesh/C535503
property_value: exactMatch http://identifiers.org/omim/600969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832998
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3 xsd:anyURI {source="GARD:0009792"}

[Term]
id: MONDO:0010965
name: autosomal recessive nonsyndromic deafness 6
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 6" EXACT [DOID:0110512]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 6" EXACT [DOID:0110512, MONDORULE:1]
synonym: "deafness, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:600971]
synonym: "deafness, autosomal recessive 6; DFNB6" RELATED [OMIM:600971]
synonym: "deafness, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:600971]
synonym: "DFNB6" EXACT [DOID:0110512, MONDO:Lexical, OMIM:600971]
synonym: "neurosensory nonsyndromic recessive deafness 6" RELATED [OMIM:600971]
synonym: "TMIE autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110512 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110512"}
xref: MESH:C563418 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600971 {source="DOID:0110512", source="MONDO:equivalentTo"}
xref: UMLS:C1832992 {source="NCBI:mim2gene_medline", source="OMIM:600971", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:600971", source="DOID:0110512", source="MONDO:Redundant", source="OMIM:600971"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110512
property_value: exactMatch http://identifiers.org/mesh/C563418
property_value: exactMatch http://identifiers.org/omim/600971
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832992

[Term]
id: MONDO:0010966
name: achondrogenesis type IB
def: "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." [Orphanet:93298]
subset: ordo_clinical_subtype {source="Orphanet:93298"}
synonym: "ACG1B" RELATED [MONDO:Lexical, OMIM:600972]
synonym: "achondrogenesis Fraccaro type" EXACT [DOID:0080055]
synonym: "achondrogenesis type 1B" RELATED [Orphanet:93298]
synonym: "achondrogenesis, Fraccaro type" RELATED [OMIM:600972]
synonym: "achondrogenesis, Parenti-Fraccaro type" EXACT [Orphanet:93298]
synonym: "achondrogenesis, type 1B" RELATED [OMIM:600972]
synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972]
synonym: "achondrogenesis, type IB; ACG1B" RELATED [OMIM:600972]
synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460]
xref: DOID:0080055 {source="MONDO:equivalentTo"}
xref: GARD:0000460 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93298", source="ORDO:93298/attributed", source="ORDO:93298/ntbt"}
xref: OMIM:600972 {source="ORDO:93298/e", source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo"}
xref: Orphanet:93298 {source="OMIM:600972", source="MONDO:equivalentTo"}
is_a: MONDO:0019648 {source="DC-OMIM:600972", source="DOID:0080055", source="OMIM:600972", source="Orphanet:93298"} ! achondrogenesis
is_a: MONDO:0019688 {source="Orphanet:93298"} ! sulfation-related bone disorder
relationship: disease_has_feature MONDO:0000746 ! obsolete inguinal hernia
property_value: exactMatch DOID:0080055
property_value: exactMatch http://identifiers.org/mesh/C536016
property_value: exactMatch http://identifiers.org/omim/600972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265274
property_value: exactMatch Orphanet:93298

[Term]
id: MONDO:0010967
name: autosomal recessive nonsyndromic deafness 7
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 7" EXACT [DOID:0110520]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 7" EXACT [DOID:0110520, MONDORULE:1]
synonym: "deafness, autosomal recessive 11" RELATED [OMIM:600974]
synonym: "deafness, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:600974]
synonym: "deafness, autosomal recessive 7; DFNB7" RELATED [OMIM:600974]
synonym: "deafness, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:600974]
synonym: "DFNB11" EXACT [DOID:0110520]
synonym: "DFNB7" EXACT [DOID:0110520, MONDO:Lexical, OMIM:600974]
synonym: "TMC1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110520 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110520"}
xref: MESH:C563417 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600974 {source="MONDO:equivalentTo", source="DOID:0110520"}
xref: UMLS:C1832978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600974"}
is_a: MONDO:0019588 {source="DC-OMIM:600974", source="DOID:0110520", source="MONDO:Redundant", source="OMIM:600974"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110520
property_value: exactMatch http://identifiers.org/mesh/C563417
property_value: exactMatch http://identifiers.org/omim/600974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832978

[Term]
id: MONDO:0010968
name: GLC3B
subset: gard_rare
synonym: "glaucoma 3 primary infantile B" RELATED [GARD:0002490]
synonym: "glaucoma 3, primary infantile, B" RELATED [MONDO:Lexical, OMIM:600975]
synonym: "glaucoma 3, primary infantile, B; GLC3B" RELATED [OMIM:600975]
synonym: "glaucoma primary congenita type 3B" RELATED [GARD:0002490]
synonym: "glaucoma, primary congenital, type B" RELATED [OMIM:600975]
synonym: "GLC3 type B" RELATED [GARD:0002490]
synonym: "Glc3, type B" RELATED [OMIM:600975]
synonym: "GLC3B" EXACT [GARD:0002490, MONDO:Lexical, OMIM:600975]
synonym: "primary congenital glaucoma" RELATED [GARD:0002490]
synonym: "primary congenital glaucoma type 3B" RELATED [GARD:0002490]
xref: GARD:0002490 {source="MONDO:equivalentTo"}
xref: MESH:C536824 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600975 {source="MONDO:equivalentTo", source="GARD:0002490"}
xref: UMLS:C1832977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600975"}
is_a: MONDO:0020366 {source="ORDO:98976/btnt"} ! congenital glaucoma
property_value: exactMatch http://identifiers.org/mesh/C536824
property_value: exactMatch http://identifiers.org/omim/600975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832977
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b xsd:anyURI {source="GARD:0002490"}

[Term]
id: MONDO:0010969
name: cone-rod dystrophy 5
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010655"}
synonym: "cone-rod dystrophy 5" EXACT [MONDO:Lexical, OMIM:600977]
synonym: "cone-rod dystrophy 5; CORD5" RELATED [OMIM:600977]
synonym: "cone-rod dystrophy caused by mutation in PITPNM3" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 5" EXACT [DOID:0111010, MONDORULE:1, OMIM:600977]
synonym: "CORD5" EXACT [DOID:0111010, MONDO:Lexical, OMIM:600977]
synonym: "PITPNM3 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111010 {source="MONDO:equivalentTo"}
xref: GARD:0010655 {source="MONDO:equivalentTo"}
xref: MESH:C563415 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600977 {source="MONDO:equivalentTo", source="DOID:0111010"}
xref: UMLS:C1832976 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600977"}
is_a: MONDO:0015993 {source="DC-OMIM:600977", source="DOID:0111010", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111010
property_value: exactMatch http://identifiers.org/mesh/C563415
property_value: exactMatch http://identifiers.org/omim/600977
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832976
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5 xsd:anyURI {source="GARD:0010655"}

[Term]
id: MONDO:0010970
name: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
synonym: "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT [OMIM:600987]
synonym: "cleft palate, Cardiac defects, and mental retardation" RELATED [OMIM:600987]
synonym: "cleft palate, CARDIAC defects, and mental retardation; CPCMR" RELATED [OMIM:600987]
synonym: "CPCMR" RELATED [OMIM:600987]
xref: MESH:C563414 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600987 {source="MONDO:equivalentTo"}
xref: UMLS:C1832950 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600987"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563414
property_value: exactMatch http://identifiers.org/omim/600987
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832950

[Term]
id: MONDO:0010971
name: infundibulopelvic stenosis-multicystic kidney syndrome
def: "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." [Orphanet:1849]
subset: ordo_malformation_syndrome {source="Orphanet:1849"}
synonym: "infundibulopelvic dysgenesis" RELATED [OMIM:600989]
xref: GARD:0003005 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535528 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600989 {source="MONDO:equivalentTo", source="ORDO:1849/e", source="Orphanet:1849"}
xref: Orphanet:1849 {source="MONDO:equivalentTo", source="OMIM:600989"}
xref: SCTID:725905005 {source="MONDO:equivalentTo"}
xref: UMLS:C1832949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600989", source="Orphanet:1849"}
is_a: MONDO:0019721 {source="Orphanet:1849"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C535528
property_value: exactMatch http://identifiers.org/omim/600989
property_value: exactMatch http://identifiers.org/snomedct/725905005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832949
property_value: exactMatch Orphanet:1849

[Term]
id: MONDO:0010972
name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
def: "This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." [Orphanet:2180]
subset: ordo_malformation_syndrome {source="Orphanet:2180"}
synonym: "Ferlini-Ragno-Calzolari syndrome" EXACT [Orphanet:2180]
synonym: "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" RELATED [GARD:0005518]
synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GARD:0005518]
synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991]
synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180]
xref: GARD:0005518 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2180/attributed", source="ORDO:2180/ntbt", source="Orphanet:2180"}
xref: MESH:C536461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="ORDO:2180/e"}
xref: Orphanet:2180 {source="OMIM:600991", source="MONDO:equivalentTo"}
xref: SCTID:721229003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0043007 {source="Orphanet:2180"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832948
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551260
property_value: exactMatch http://identifiers.org/mesh/C536461
property_value: exactMatch http://identifiers.org/omim/600991
property_value: exactMatch http://identifiers.org/snomedct/721229003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931197
property_value: exactMatch Orphanet:2180

[Term]
id: MONDO:0010973
name: autosomal dominant nonsyndromic deafness 5
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 5" EXACT [DOID:0110575]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 5" EXACT [DOID:0110575, MONDORULE:1]
synonym: "deafness, autosomal dominant 5" RELATED [MONDO:Lexical, OMIM:600994]
synonym: "deafness, autosomal dominant 5; DFNA5" RELATED [OMIM:600994]
synonym: "deafness, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:600994]
synonym: "DFNA5" EXACT [DOID:0110575, MONDO:Lexical, OMIM:600994]
synonym: "GSDME autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110575 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110575"}
xref: MESH:C563410 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600994 {source="MONDO:equivalentTo", source="DOID:0110575"}
xref: UMLS:C1832932 {source="OMIM:600994", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:600994", source="DOID:0110575", source="MONDO:Redundant", source="OMIM:600994"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110575
property_value: exactMatch http://identifiers.org/mesh/C563410
property_value: exactMatch http://identifiers.org/omim/600994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832932

[Term]
id: MONDO:0010974
name: nephrotic syndrome, type 2
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in NPHS2" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, idiopathic, steroid-resistant" RELATED [GARD:0003946]
synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [OMIM:600995]
synonym: "nephrotic syndrome, type 2" EXACT [MONDO:Lexical, OMIM:600995]
synonym: "nephrotic syndrome, type 2; NPHS2" RELATED [OMIM:600995]
synonym: "NPHS2" RELATED [MONDO:Lexical, OMIM:600995]
synonym: "NPHS2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SRN1" RELATED [GARD:0003946]
xref: GARD:0003946 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:600995 {source="MONDO:equivalentTo"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/600995

[Term]
id: MONDO:0010975
name: arrhythmogenic right ventricular dysplasia 2
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT [DOID:0110071, OMIM:600996]
synonym: "arrhythmogenic right ventricular dysplasia type 2" EXACT [DOID:0110071, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 2" RELATED [MONDO:Lexical, OMIM:600996]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 2; ARVD2" RELATED [OMIM:600996]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT [MONDORULE:1, OMIM:600996]
synonym: "ARVC2" EXACT [DOID:0110071]
synonym: "ARVD2" EXACT [DOID:0110071, MONDO:Lexical, OMIM:600996]
synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT [DOID:0110071]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" EXACT [MONDO:design_pattern]
synonym: "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110071 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110071"}
xref: MESH:C563409 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:600996 {source="DOID:0110071", source="MONDO:equivalentTo"}
xref: UMLS:C1832931 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600996"}
is_a: MONDO:0016342 {source="MONDO:Redundant", source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110071
property_value: exactMatch http://identifiers.org/mesh/C563409
property_value: exactMatch http://identifiers.org/omim/600996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832931

[Term]
id: MONDO:0010976
name: KRT14-related epidermolysis bullosa simplex
def: "KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." [Orphanet:89838]
subset: ordo_disease {source="Orphanet:89838"}
synonym: "EBS, autosomal recessive K14" EXACT [Orphanet:89838]
synonym: "EBS-AR KRT14" EXACT [Orphanet:89838]
synonym: "EBSB1" RELATED [MONDO:Lexical, OMIM:601001]
synonym: "epidermolysis bullosa simplex, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:601001]
synonym: "epidermolysis bullosa simplex, autosomal recessive 1; EBSB1" RELATED [OMIM:601001]
synonym: "epidermolysis bullosa simplex, autosomal recessive K14" RELATED [Orphanet:89838]
synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:601001]
synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838]
synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:89838/attributed", source="ORDO:89838/ntbt", source="Orphanet:89838"}
xref: MESH:C563408 {source="MONDO:equivalentTo"}
xref: OMIM:601001 {source="ORDO:89838/e", source="MONDO:equivalentTo", source="Orphanet:89838"}
xref: Orphanet:89838 {source="OMIM:601001", source="MONDO:equivalentTo"}
is_a: MONDO:0015551 {source="Orphanet:89838"} ! basal epidermolysis bullosa simplex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832926
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3715082
property_value: exactMatch http://identifiers.org/mesh/C563408
property_value: exactMatch http://identifiers.org/omim/601001
property_value: exactMatch Orphanet:89838

[Term]
id: MONDO:0010977
name: Brody myopathy
def: "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." [https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy]
subset: gard_rare {source="GARD:0009158"}
subset: ordo_disease {source="Orphanet:53347"}
synonym: "Brody disease" RELATED [GARD:0009158]
synonym: "Brody myopathy" EXACT [OMIM:601003]
synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158]
xref: DOID:0050692 {source="MONDO:equivalentTo"}
xref: GARD:0009158 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="Orphanet:53347", source="ORDO:53347/attributed", source="ORDO:53347/ntbt"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536607 {source="ORDO:53347/e", source="Orphanet:53347", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601003 {source="ORDO:53347/e", source="Orphanet:53347", source="MONDO:equivalentTo", source="DOID:0050692"}
xref: Orphanet:53347 {source="OMIM:601003", source="MONDO:equivalentTo"}
xref: SCTID:703530005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1832918 {source="ORDO:53347/e", source="OMIM:601003", source="NCBI:mim2gene_medline", source="Orphanet:53347", source="MONDO:equivalentTo"}
is_a: MONDO:0016110 {source="Orphanet:53347"} ! non-dystrophic myopathy
is_a: MONDO:0016199 {source="Orphanet:53347"} ! qualitative or quantitative defects of protein SERCA1
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0050692
property_value: exactMatch http://identifiers.org/mesh/C536607
property_value: exactMatch http://identifiers.org/omim/601003
property_value: exactMatch http://identifiers.org/snomedct/703530005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832918
property_value: exactMatch Orphanet:53347
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy xsd:anyURI {source="GARD:0009158"}

[Term]
id: MONDO:0010978
name: portal vein, cavernous transformation of
synonym: "portal vein, cavernous transformation of" EXACT [OMIM:601004]
xref: MESH:C563407 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601004 {source="MONDO:equivalentTo"}
xref: UMLS:C1832917 {source="NCBI:mim2gene_medline", source="OMIM:601004", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563407
property_value: exactMatch http://identifiers.org/omim/601004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832917

[Term]
id: MONDO:0010979
name: Timothy syndrome
def: "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." [Orphanet:65283]
subset: gard_rare {source="GARD:0009294"}
subset: ordo_clinical_subtype {source="Orphanet:65283"}
synonym: "long QT syndrome 8" RELATED [OMIM:601005]
synonym: "long QT syndrome type 8" EXACT [Orphanet:65283]
synonym: "long QT syndrome with syndactyly" RELATED [OMIM:601005]
synonym: "long QT syndrome-syndactyly syndrome" EXACT [Orphanet:65283]
synonym: "LQT8" EXACT [Orphanet:65283]
synonym: "Timothy syndrome" EXACT [MONDO:Lexical, OMIM:601005]
synonym: "TIMOTHY syndrome; TS" RELATED [OMIM:601005]
synonym: "TS" RELATED [MONDO:Lexical, OMIM:601005]
xref: DOID:0060173 {source="MONDO:equivalentTo"}
xref: GARD:0009294 {source="MONDO:equivalentTo"}
xref: ICD10:G72.3 {source="DOID:0060173"}
xref: ICD10:I45.8 {source="ORDO:65283/attributed", source="ORDO:65283/ntbt", source="Orphanet:65283"}
xref: MESH:C536962 {source="MONDO:equivalentTo", source="ORDO:65283/e", source="MONDO:ontobio", source="Orphanet:65283"}
xref: NCIT:C142894 {source="MONDO:equivalentTo"}
xref: OMIM:601005 {source="MONDO:equivalentTo", source="ORDO:65283/e", source="Orphanet:65283", source="DOID:0060173"}
xref: Orphanet:65283 {source="OMIM:601005", source="MONDO:equivalentTo", source="DOID:0060173"}
xref: UMLS:C1832916 {source="OMIM:601005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:65283/e", source="Orphanet:65283"}
is_a: MONDO:0000426 {source="DOID:0060173", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019171 {source="MONDO:Redundant", source="OMIM:601005", source="Orphanet:65283"} ! familial long QT syndrome
relationship: disease_has_feature MONDO:0000190 {source="Wikidata"} ! ventricular fibrillation (disease)
relationship: disease_has_feature MONDO:0000992 {source="Wikidata"} ! heart conduction disease
property_value: exactMatch DOID:0060173
property_value: exactMatch http://identifiers.org/mesh/C536962
property_value: exactMatch http://identifiers.org/omim/601005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832916
property_value: exactMatch NCIT:C142894
property_value: exactMatch Orphanet:65283
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome xsd:anyURI {source="GARD:0009294"}

[Term]
id: MONDO:0010980
name: midline malformations, multiple, with limb abnormalities and hypopituitarism
synonym: "Dincsoy syndrome" RELATED [OMIM:601016]
synonym: "Dincsoy-Salih-Patel syndrome" EXACT [Orphanet:1678]
synonym: "midline malformations, multiple, with limb abnormalities and hypopituitarism" EXACT [OMIM:601016]
xref: MESH:C536177 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601016 {source="MONDO:equivalentTo"}
xref: Orphanet:1678 {source="OMIM:601016", source="MONDO:equivalentTo"}
xref: UMLS:C1832874 {source="OMIM:601016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536177
property_value: exactMatch http://identifiers.org/omim/601016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832874
property_value: exactMatch Orphanet:1678

[Term]
id: MONDO:0010981
name: absent tibia-polydactyly-arachnoid cyst syndrome
def: "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." [Orphanet:3328]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3328"}
synonym: "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210]
synonym: "Holmes Collins syndrome" RELATED [GARD:0005210]
synonym: "Holmes-Collins syndrome" EXACT [Orphanet:3328]
synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210]
synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027]
synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210]
xref: GARD:0005210 {source="MONDO:equivalentTo"}
xref: MESH:C563403 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601027 {source="MONDO:equivalentTo", source="ORDO:3328/e", source="Orphanet:3328", source="GARD:0005210"}
xref: Orphanet:3328 {source="OMIM:601027", source="MONDO:equivalentTo", source="GARD:0005210"}
xref: SCTID:733068001 {source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:3328"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:3328"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3328"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832859
property_value: exactMatch http://identifiers.org/mesh/C536918
property_value: exactMatch http://identifiers.org/mesh/C563403
property_value: exactMatch http://identifiers.org/omim/601027
property_value: exactMatch http://identifiers.org/snomedct/733068001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931368
property_value: exactMatch Orphanet:3328
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst xsd:anyURI {source="GARD:0005210"}

[Term]
id: MONDO:0010982
name: ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
synonym: "ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin" RELATED [OMIM:601039]
xref: GARD:0002957 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563402 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601039 {source="MONDO:equivalentTo"}
xref: UMLS:C1832858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601039"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563402
property_value: exactMatch http://identifiers.org/omim/601039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832858

[Term]
id: MONDO:0010983
name: dystonia 9
def: "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." [DOID:0090044]
subset: ordo_disease {source="Orphanet:53583"}
synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [OMIM:601042]
synonym: "choreoathetosis/spasticity, episodic" RELATED [OMIM:601042]
synonym: "Cse choreoathetosis, paroxysmal, with episodic ataxia" RELATED [OMIM:601042]
synonym: "dystonia 9" EXACT [MONDO:Lexical, OMIM:601042]
synonym: "dystonia 9; DYT9" RELATED [OMIM:601042]
synonym: "dystonia type 9" EXACT [DOID:0090044, MONDORULE:1, OMIM:601042]
synonym: "DYT9" EXACT [MONDO:Lexical, OMIM:601042, Orphanet:53583]
synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583]
synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583]
xref: DOID:0090044 {source="MONDO:equivalentTo"}
xref: ICD10:G24.8 {source="ORDO:53583/attributed", source="ORDO:53583/ntbt", source="DOID:0090044", source="Orphanet:53583"}
xref: MESH:C563401 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601042 {source="DOID:0090044", source="MONDO:equivalentTo", source="ORDO:53583/e", source="Orphanet:53583"}
xref: Orphanet:53583 {source="DOID:0090044", source="MONDO:equivalentTo", source="OMIM:601042"}
xref: SCTID:715564000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.37"}
xref: UMLS:C1832855 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601042", source="Orphanet:53583"}
is_a: MONDO:0016058 {source="Orphanet:53583", source="linkedlifedata"} ! paroxysmal dystonia
property_value: exactMatch DOID:0090044
property_value: exactMatch http://identifiers.org/mesh/C563401
property_value: exactMatch http://identifiers.org/omim/601042
property_value: exactMatch http://identifiers.org/snomedct/715564000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832855
property_value: exactMatch Orphanet:53583

[Term]
id: MONDO:0010984
name: Usher syndrome type 1D
def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." [OMIM:601067]
subset: gard_rare {source="GARD:0005438"}
synonym: "USH1D" EXACT [DOID:0110831, MONDO:Lexical, OMIM:601067]
synonym: "Ush1D/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067]
synonym: "Usher syndrome type 1D" EXACT []
synonym: "Usher syndrome type ID" EXACT [DOID:0110831]
synonym: "Usher syndrome, type 1D" RELATED [GARD:0005438]
synonym: "USHER syndrome, type ID" RELATED [MONDO:Lexical, OMIM:601067]
synonym: "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067]
synonym: "USHER syndrome, type ID; USH1D" RELATED [OMIM:601067]
xref: DOID:0110831 {source="MONDO:equivalentTo"}
xref: GARD:0005438 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110831", source="MONDO:relatedTo"}
xref: OMIM:601067 {source="DOID:0110831", source="MONDO:equivalentTo"}
is_a: MONDO:0010168 {source="DOID:0110831", source="MONDOLEX:0010984"} ! Usher syndrome type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832845
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152102
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275872
property_value: exactMatch DOID:0110831
property_value: exactMatch http://identifiers.org/omim/601067
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d xsd:anyURI {source="GARD:0005438"}

[Term]
id: MONDO:0010985
name: FAME1
synonym: "benign adult familial myoclonic epilepsy 1" RELATED [OMIM:601068]
synonym: "cortical myoclonic tremor with epilepsy, familial, 1" RELATED [OMIM:601068]
synonym: "epilepsy, familial ADULT myoclonic, 1" RELATED [MONDO:Lexical, OMIM:601068]
synonym: "epilepsy, familial ADULT myoclonic, 1; FAME1" RELATED [OMIM:601068]
synonym: "FAME1" EXACT [MONDO:Lexical, OMIM:601068]
xref: MESH:C563399 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601068 {source="MONDO:equivalentTo"}
xref: UMLS:C1832841 {source="OMIM:601068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="DC-OMIM:601068", source="OMIM:601068"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0019448 ! benign adult familial myoclonic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C563399
property_value: exactMatch http://identifiers.org/omim/601068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832841

[Term]
id: MONDO:0010986
name: autosomal recessive nonsyndromic deafness 9
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "auditory neuropathy, autosomal recessive, 1" RELATED [OMIM:601071]
synonym: "auditory neuropathy, nonsyndromic recessive" RELATED [OMIM:601071]
synonym: "autosomal recessive deafness 9" EXACT [DOID:0110535]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 9" EXACT [DOID:0110535, MONDORULE:1]
synonym: "deafness, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:601071]
synonym: "deafness, autosomal recessive 9; DFNB9" RELATED [OMIM:601071]
synonym: "deafness, autosomal recessive type 9" EXACT [MONDORULE:1, OMIM:601071]
synonym: "DFNB9" EXACT [DOID:0110535, MONDO:Lexical, OMIM:601071]
synonym: "neurosensory nonsyndromic recessive deafness 9" EXACT [DOID:0110535, OMIM:601071]
synonym: "NRSD9" EXACT [DOID:0110535]
synonym: "OTOF autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110535 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110535"}
xref: OMIM:601071 {source="DOID:0110535", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:601071", source="DOID:0110535", source="MONDO:Redundant", source="OMIM:601071"} ! autosomal recessive nonsyndromic deafness
is_a: MONDO:0021944 {source="OMIM:601071"} ! auditory neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832828
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832830
property_value: exactMatch DOID:0110535
property_value: exactMatch http://identifiers.org/omim/601071

[Term]
id: MONDO:0010987
name: autosomal recessive nonsyndromic deafness 8
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22." [DOID:0110527, PMID:11137999]
synonym: "autosomal recessive deafness 10" EXACT [DOID:0110527]
synonym: "autosomal recessive deafness 8" EXACT [DOID:0110527]
synonym: "autosomal recessive nonsyndromic deafness type 8" EXACT [DOID:0110527, MONDORULE:1]
synonym: "childhood-onset neurosensory autosomal recessive deafness 8" EXACT [DOID:0110527]
synonym: "deafness, autosomal recessive 10" RELATED [OMIM:601072]
synonym: "deafness, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:601072]
synonym: "deafness, autosomal recessive 8; DFNB8" RELATED [OMIM:601072]
synonym: "deafness, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:601072]
synonym: "deafness, childhood-onset neurosensory, autosomal recessive 8" RELATED [OMIM:601072]
synonym: "DFNB10" EXACT [DOID:0110527]
synonym: "DFNB8" EXACT [DOID:0110527, MONDO:Lexical, OMIM:601072]
synonym: "neurosensory nonsyndromic recessive deafness 8" EXACT [DOID:0110527, OMIM:601072]
synonym: "NRSD8" EXACT [DOID:0110527]
xref: DOID:0110527 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110527"}
xref: OMIM:601072 {source="DOID:0110527", source="MONDO:equivalentTo"}
xref: UMLS:C1832827 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601072"}
is_a: MONDO:0019588 {source="DC-OMIM:601072", source="DOID:0110527", source="OMIM:601072"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110527
property_value: exactMatch http://identifiers.org/omim/601072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832827

[Term]
id: MONDO:0010988
name: aplasia cutis-myopia syndrome
def: "Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." [Orphanet:1117]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1117"}
synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [OMIM:601075]
synonym: "aplasia cutis myopia" EXACT [MONDO:0021910]
synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117]
xref: GARD:0000756 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.8 {source="ORDO:1117/attributed", source="ORDO:1117/ntbt", source="Orphanet:1117"}
xref: MESH:C563394 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601075 {source="MONDO:equivalentTo", source="ORDO:1117/e", source="Orphanet:1117"}
xref: Orphanet:1117 {source="MONDO:equivalentTo", source="OMIM:601075"}
xref: SCTID:720499004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.78"}
is_a: MONDO:0007145 {source="GARD:0000756", source="MONDO:0021910"} ! aplasia cutis congenita (disease)
is_a: MONDO:0015331 {source="Orphanet:1117"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0020208 {source="Orphanet:1117"} ! syndromic myopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832826
property_value: exactMatch http://identifiers.org/mesh/C563394
property_value: exactMatch http://identifiers.org/omim/601075
property_value: exactMatch http://identifiers.org/snomedct/720499004
property_value: exactMatch Orphanet:1117
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia xsd:anyURI {source="GARD:0000756"}

[Term]
id: MONDO:0010989
name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." [Orphanet:2578]
subset: ordo_clinical_subtype {source="Orphanet:2578"}
synonym: "atypical MRKH syndrome" EXACT [Orphanet:2578]
synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [OMIM:601076]
synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2" RELATED [OMIM:601076]
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 2" EXACT [Orphanet:2578]
synonym: "MRKH syndrome type 2" EXACT [Orphanet:2578]
synonym: "MRKH, type 2" RELATED [OMIM:601076]
synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" RELATED [MONDO:Lexical, OMIM:601076]
synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS" RELATED [OMIM:601076]
synonym: "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578]
synonym: "MURCS" RELATED [MONDO:Lexical, OMIM:601076]
synonym: "MURCS association" EXACT [Orphanet:2578]
synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578]
xref: GARD:0005513 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2578/attributed", source="ORDO:2578/ntbt", source="Orphanet:2578"}
xref: OMIM:601076 {source="ORDO:2578/e", source="MONDO:equivalentTo", source="Orphanet:2578"}
xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"}
xref: SCTID:717705004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:2578"} ! syndromic anorectal malformation
is_a: MONDO:0017771 {source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/omim/601076
property_value: exactMatch http://identifiers.org/snomedct/717705004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832817
property_value: exactMatch Orphanet:2578

[Term]
id: MONDO:0010990
name: Cd4/CD8 T-cell ratio
synonym: "Cd4/CD8 T-cell ratio" EXACT [OMIM:601083]
xref: OMIM:601083 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832816
property_value: exactMatch http://identifiers.org/omim/601083

[Term]
id: MONDO:0010991
name: laterality defects, autosomal dominant
synonym: "laterality defects dominant" RELATED [GARD:0003198]
synonym: "laterality defects, autosomal dominant" EXACT [OMIM:601086]
xref: GARD:0003198 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563391 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601086 {source="MONDO:equivalentTo"}
xref: UMLS:C1832813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601086"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="ORDO:450/btnt"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/mesh/C563391
property_value: exactMatch http://identifiers.org/omim/601086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832813

[Term]
id: MONDO:0010992
name: Ayme-Gripp syndrome
subset: ordo_malformation_syndrome {source="Orphanet:477668"}
synonym: "AYGRP" RELATED [MONDO:Lexical, OMIM:601088]
synonym: "Ayme-Gripp syndrome" EXACT [MONDO:Lexical, OMIM:601088]
synonym: "AYME-Gripp syndrome; AYGRP" RELATED [OMIM:601088]
synonym: "Aymé-Gripp syndrome" RELATED [Orphanet:477668]
synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" RELATED [OMIM:601088]
xref: EFO:0009020 {source="MONDO:equivalentTo"}
xref: MESH:C563390 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601088 {source="MONDO:equivalentTo", source="Orphanet:477668"}
xref: Orphanet:477668 {source="MONDO:equivalentTo"}
xref: UMLS:C1832812 {source="OMIM:601088", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477668", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:477668"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:477668"} ! syndromic genetic deafness
is_a: MONDO:0020225 {source="Orphanet:477668"} ! syndromic cataract
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C563390
property_value: exactMatch http://identifiers.org/omim/601088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832812
property_value: exactMatch Orphanet:477668

[Term]
id: MONDO:0010993
name: Harrod syndrome
def: "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." [Orphanet:2115]
subset: ordo_malformation_syndrome {source="Orphanet:2115"}
synonym: "cranio-facio-digito-genital syndrome" EXACT [Orphanet:2115]
synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601]
synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601]
synonym: "Harrod syndrome" EXACT [OMIM:601095]
xref: GARD:0002601 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2115", source="ORDO:2115/attributed", source="ORDO:2115/ntbt"}
xref: MESH:C535635 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601095 {source="Orphanet:2115", source="ORDO:2115/e", source="MONDO:equivalentTo"}
xref: Orphanet:2115 {source="MONDO:equivalentTo", source="OMIM:601095"}
xref: SCTID:716089008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
xref: UMLS:C0795970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601095"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2115", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2115"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535635
property_value: exactMatch http://identifiers.org/omim/601095
property_value: exactMatch http://identifiers.org/snomedct/716089008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795970
property_value: exactMatch Orphanet:2115

[Term]
id: MONDO:0010994
name: micromelic dwarfism, Fryns type
subset: ordo_disease {source="Orphanet:2641"}
synonym: "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" RELATED [OMIM:601096]
synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects" RELATED [GARD:0003642]
synonym: "SEMD, micromelic" RELATED [OMIM:601096]
synonym: "spondyloepimetaphyseal dysplasia micromelic" RELATED [GARD:0003642]
synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [OMIM:601096]
xref: GARD:0003642 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:2641", source="ORDO:2641/attributed", source="ORDO:2641/ntbt"}
xref: MESH:C537556 {source="Orphanet:2641", source="ORDO:2641/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601096 {source="Orphanet:2641", source="ORDO:2641/e", source="MONDO:equivalentTo"}
xref: Orphanet:2641 {source="MONDO:equivalentTo", source="OMIM:601096"}
xref: SCTID:715479009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C1832800 {source="Orphanet:2641", source="ORDO:2641/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601096"}
is_a: MONDO:0016761 {source="DC-OMIM:601096", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0016763 {source="Orphanet:2641"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537556
property_value: exactMatch http://identifiers.org/omim/601096
property_value: exactMatch http://identifiers.org/snomedct/715479009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832800
property_value: exactMatch Orphanet:2641

[Term]
id: MONDO:0010995
name: Charcot-Marie-Tooth disease type 1C
def: "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0001247"}
subset: ordo_disease {source="Orphanet:101083"}
synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical, OMIM:601098]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C; CMT1C" RELATED [OMIM:601098]
synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [DOID:0110151]
synonym: "Charcot-Marie-Tooth neuropathy, type 1C" RELATED [OMIM:601098]
synonym: "CMT 1C" RELATED [GARD:0001247]
synonym: "CMT slow nerve conduction type C" EXACT [DOID:0110151]
synonym: "CMT, slow nerve conduction type C" RELATED [OMIM:601098]
synonym: "CMT1C" EXACT [DOID:0110151, MONDO:Lexical, OMIM:601098, Orphanet:101083]
synonym: "HMSN 1C" RELATED [OMIM:601098]
synonym: "HMSN IC" EXACT [DOID:0110151]
synonym: "HMSN1C" EXACT [DOID:0110151]
synonym: "LITAF Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151]
synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098]
xref: DOID:0110151 {source="MONDO:equivalentTo"}
xref: GARD:0001247 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:101083/attributed", source="ORDO:101083/ntbt", source="DOID:0110151", source="Orphanet:101083"}
xref: MESH:C537984 {source="MONDO:equivalentTo", source="Orphanet:101083", source="MONDO:ontobio", source="ORDO:101083/e"}
xref: OMIM:601098 {source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083", source="ORDO:101083/e"}
xref: Orphanet:101083 {source="MONDO:equivalentTo", source="DOID:0110151", source="OMIM:601098"}
xref: UMLS:C0270913 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101083", source="ORDO:101083/e", source="OMIM:601098"}
is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Redundant", source="Orphanet:101083"} ! Charcot-Marie-Tooth disease type 1
property_value: exactMatch DOID:0110151
property_value: exactMatch http://identifiers.org/mesh/C537984
property_value: exactMatch http://identifiers.org/omim/601098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270913
property_value: exactMatch Orphanet:101083
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c xsd:anyURI {source="GARD:0001247"}

[Term]
id: MONDO:0010996
name: hereditary hemorrhagic telangiectasia type 3
subset: gard_rare
synonym: "HHT3" RELATED [GARD:0009902, MONDO:Lexical, OMIM:601101]
synonym: "ORW3" RELATED [GARD:0009902]
synonym: "Osler Weber Rendu syndrome type 3" RELATED [GARD:0009902]
synonym: "telangiectasia hereditary hemorrhagic type 3" RELATED [GARD:0009902]
synonym: "telangiectasia, hereditary hemorrhagic, type 3" RELATED [MONDO:Lexical, OMIM:601101]
synonym: "telangiectasia, hereditary hemorrhagic, type 3; HHT3" RELATED [OMIM:601101]
xref: GARD:0009902 {source="MONDO:equivalentTo"}
xref: MESH:C537140 {source="MONDO:equivalentTo"}
xref: OMIM:601101 {source="GARD:0009902", source="MONDO:equivalentTo"}
is_a: MONDO:0019180 {source="DC-OMIM:601101", source="MESH:C537140", source="MONDOLEX:0010996", source="OMIM:601101"} ! hereditary hemorrhagic telangiectasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832774
property_value: exactMatch http://identifiers.org/mesh/C537140
property_value: exactMatch http://identifiers.org/omim/601101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 xsd:anyURI {source="GARD:0009902"}

[Term]
id: MONDO:0010997
name: classic progressive supranuclear palsy syndrome
def: "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." [Orphanet:240071]
subset: ordo_clinical_subtype {source="Orphanet:240071"}
synonym: "classic PSP syndrome" EXACT [Orphanet:240071]
synonym: "PSNP1" RELATED [MONDO:Lexical, OMIM:601104]
synonym: "Psp" RELATED [OMIM:601104]
synonym: "Richardson syndrome" EXACT [Orphanet:240071]
synonym: "Steele-Richardson-Olszewski disease" EXACT [Orphanet:240071]
synonym: "Steele-Richardson-Olszewski syndrome" RELATED [OMIM:601104]
synonym: "supranuclear palsy, progressive, 1" RELATED [MONDO:Lexical, OMIM:601104]
synonym: "supranuclear palsy, progressive, 1; PSNP1" RELATED [OMIM:601104]
synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104]
xref: ICD10:G23.1 {source="ORDO:240071/inclusion", source="ORDO:240071/ntbt", source="Orphanet:240071"}
xref: OMIM:601104 {source="MONDO:equivalentTo", source="ORDO:240071/e", source="Orphanet:240071"}
xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"}
xref: UMLS:CN201679 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019037 {source="DC-OMIM:601104", source="MONDOLEX:0010997", source="Orphanet:240071"} ! progressive supranuclear palsy
property_value: exactMatch http://identifiers.org/omim/601104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201679
property_value: exactMatch Orphanet:240071

[Term]
id: MONDO:0010998
name: ALG3-CDG
def: "(3q27.3)." [Orphanet:79321]
subset: ordo_disease {source="Orphanet:79321"}
synonym: "ALG3-CDG (CDG-Id)" RELATED [GARD:0009827]
synonym: "carbohydrate deficient glycoprotein syndrome type Id" EXACT [Orphanet:79321]
synonym: "carbohydrate-deficient glycoprotein syndrome type IV (formerly)" RELATED [GARD:0009827]
synonym: "carbohydrate-deficient glycoprotein syndrome, type IV" RELATED [OMIM:601110]
synonym: "carbohydrate-deficient glycoprotein syndrome, type IV, formerly" RELATED [OMIM:601110]
synonym: "CDG 1D" RELATED [GARD:0009827]
synonym: "CDG Id" RELATED [OMIM:601110]
synonym: "CDG syndrome type Id" EXACT [Orphanet:79321]
synonym: "CDG-Id" EXACT [Orphanet:79321]
synonym: "CDG1D" EXACT [MONDO:Lexical, OMIM:601110, Orphanet:79321]
synonym: "CDGId" EXACT [NCIT:C126870]
synonym: "Cdgs, type IV" RELATED [OMIM:601110]
synonym: "Cdgs, type IV, formerly" RELATED [OMIM:601110]
synonym: "CDGS4 (formerly)" RELATED [GARD:0009827]
synonym: "congenital disorder of glycosylation type 1d" EXACT [Orphanet:79321]
synonym: "congenital disorder of glycosylation type Id" EXACT [Orphanet:79321]
synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, OMIM:601110]
synonym: "congenital disorder of glycosylation, type Id; CDG1D" RELATED [OMIM:601110]
synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321]
xref: GARD:0009827 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79321/attributed", source="ORDO:79321/ntbt", source="Orphanet:79321"}
xref: MESH:C535742 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126870 {source="MONDO:kboom-pr-1.00/0.91/29.28", source="MONDO:equivalentTo"}
xref: OMIM:601110 {source="MONDO:equivalentTo", source="ORDO:79321/e", source="Orphanet:79321"}
xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"}
xref: SCTID:720976009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
xref: UMLS:C1832736 {source="OMIM:601110", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="NCIT:C126870", source="MONDO:equivalentTo", source="Orphanet:79321"}
is_a: MONDO:0005500 {source="DC-OMIM:601110", source="MONDOLEX:0010998"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79321"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:79321"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535742
property_value: exactMatch http://identifiers.org/omim/601110
property_value: exactMatch http://identifiers.org/snomedct/720976009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832736
property_value: exactMatch NCIT:C126870
property_value: exactMatch Orphanet:79321

[Term]
id: MONDO:0010999
name: fallot complex-intellectual disability-growth delay syndrome
def: "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." [Orphanet:3304]
subset: ordo_malformation_syndrome {source="Orphanet:3304"}
synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893]
synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304]
synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127]
xref: GARD:0000893 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:3304/attributed", source="ORDO:3304/ntbt", source="Orphanet:3304"}
xref: MESH:C536608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601127 {source="ORDO:3304/e", source="MONDO:equivalentTo", source="Orphanet:3304"}
xref: Orphanet:3304 {source="MONDO:equivalentTo", source="OMIM:601127"}
xref: SCTID:723336008 {source="MONDO:equivalentTo"}
xref: UMLS:C1832735 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601127", source="Orphanet:3304", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3304", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3304"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536608
property_value: exactMatch http://identifiers.org/omim/601127
property_value: exactMatch http://identifiers.org/snomedct/723336008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832735
property_value: exactMatch Orphanet:3304

[Term]
id: MONDO:0011000
name: guanylate cyclase 2E
synonym: "GC-E" RELATED [OMIM:601138]
synonym: "guanylate cyclase 2E" EXACT [MONDO:Lexical, OMIM:601138]
synonym: "guanylate cyclase 2E, pseudogene" RELATED [OMIM:601138]
synonym: "guanylate cyclase 2E, pseudogene; GUCY2EP" RELATED [OMIM:601138]
synonym: "guanylate cyclase 2E; GUCY2E" RELATED [OMIM:601138]
synonym: "guanylate cyclase type 2E" EXACT [MONDORULE:4, OMIM:601138]
synonym: "guanylyl cyclase, Membrane, type E" RELATED [OMIM:601138]
synonym: "Gucy2D, mouse, homolog of" RELATED [OMIM:601138]
synonym: "GUCY2E" RELATED [MONDO:Lexical, OMIM:601138]
synonym: "GUCY2EP" RELATED [OMIM:601138]
xref: OMIM:601138 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415365
property_value: exactMatch http://identifiers.org/omim/601138

[Term]
id: MONDO:0011001
name: Brugada syndrome 1
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA1" EXACT [DOID:0110218, MONDO:Lexical, OMIM:601144]
synonym: "Brugada syndrome 1" EXACT [MONDO:Lexical, OMIM:601144]
synonym: "Brugada syndrome 1; BRGDA1" RELATED [OMIM:601144]
synonym: "Brugada syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 1" EXACT [DOID:0110218, MONDORULE:1, OMIM:601144]
synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:601144]
synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" RELATED [OMIM:601144]
synonym: "SCN5A Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sudden unexplained nocturnal death syndrome" RELATED [OMIM:601144]
xref: DOID:0110218 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110218"}
xref: OMIM:601144 {source="DOID:0110218", source="MONDO:equivalentTo"}
xref: UMLS:CN029323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015263 {source="DC-OMIM:601144", source="DOID:0110218", source="MONDO:Redundant", source="OMIM:601144"} ! Brugada syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748542
property_value: exactMatch DOID:0110218
property_value: exactMatch http://identifiers.org/omim/601144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029323

[Term]
id: MONDO:0011002
name: neuropathy, hereditary motor and sensory, type 6A
def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Charcot-Marie-Tooth disease, type 6" BROAD [OMIM:601152]
synonym: "Charcot-Marie-Tooth disease, type 6A" EXACT [OMIM:601152]
synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" EXACT [MONDO:design_pattern]
synonym: "HMSN 6A" RELATED [OMIM:601152]
synonym: "HMSN6A" RELATED [MONDO:Lexical, OMIM:601152]
synonym: "MFN2 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary motor and sensory, type 6" BROAD [OMIM:601152]
synonym: "neuropathy, hereditary motor and sensory, type VIA" EXACT [MONDO:Lexical, OMIM:601152]
synonym: "neuropathy, hereditary motor and sensory, type VIA; HMSN6A" EXACT [OMIM:601152]
synonym: "peripheral neuropathy and optic atrophy" BROAD [OMIM:601152]
xref: OMIM:601152 {source="MONDO:equivalentTo"}
is_a: MONDO:0002316 {source="DC-OMIM:601152"} ! motor peripheral neuropathy
is_a: MONDO:0019551 {source="MONDO:Redundant"} ! hereditary motor and sensory neuropathy type 6
property_value: exactMatch http://identifiers.org/omim/601152

[Term]
id: MONDO:0011003
name: dilated cardiomyopathy 1E
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1E" RELATED [MONDO:Lexical, OMIM:601154]
synonym: "cardiomyopathy, dilated, 1E; CMD1E" RELATED [OMIM:601154]
synonym: "cardiomyopathy, dilated, type 1E" EXACT [MONDORULE:4, OMIM:601154]
synonym: "cardiomyopathy, dilated, with conduction defect 2" RELATED [OMIM:601154]
synonym: "cardiomyopathy, dilated, with conduction disorder and arrhythmia" RELATED [OMIM:601154]
synonym: "CDCD2" EXACT [DOID:0110433]
synonym: "CMD1E" EXACT [DOID:0110433, MONDO:Lexical, OMIM:601154]
synonym: "dilated cardiomyopathy type 1E" EXACT [DOID:0110433, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [DOID:0110433]
synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT [DOID:0110433]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "SCN5A familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110433 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110433"}
xref: MESH:C563384 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601154 {source="MONDO:equivalentTo", source="DOID:0110433"}
xref: UMLS:C1832680 {source="OMIM:601154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110433
property_value: exactMatch http://identifiers.org/mesh/C563384
property_value: exactMatch http://identifiers.org/omim/601154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832680

[Term]
id: MONDO:0011004
name: lissencephaly type 3-metacarpal bone dysplasia syndrome
def: "This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms)." [Orphanet:86822]
subset: ordo_malformation_syndrome {source="Orphanet:86822"}
synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160]
synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160]
xref: ICD10:Q04.3 {source="Orphanet:86822", source="ORDO:86822/attributed", source="ORDO:86822/ntbt"}
xref: MESH:C563383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601160 {source="ORDO:86822/e", source="MONDO:equivalentTo", source="Orphanet:86822"}
xref: Orphanet:86822 {source="MONDO:equivalentTo", source="OMIM:601160"}
xref: SCTID:718720007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C1832678 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601160"}
is_a: MONDO:0015148 {source="MONDOLEX:0011004", source="Orphanet:86822"} ! lissencephaly type 3
property_value: exactMatch http://identifiers.org/mesh/C563383
property_value: exactMatch http://identifiers.org/omim/601160
property_value: exactMatch http://identifiers.org/snomedct/718720007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832678
property_value: exactMatch Orphanet:86822

[Term]
id: MONDO:0011005
name: trisomy 18-like syndrome
synonym: "trisomy 18-like syndrome" EXACT [OMIM:601161]
xref: MESH:C563382 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601161 {source="MONDO:equivalentTo"}
xref: UMLS:C1832677 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601161"}
is_a: MONDO:0003847 {source="MESH:C563382/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563382
property_value: exactMatch http://identifiers.org/omim/601161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832677

[Term]
id: MONDO:0011006
name: hereditary spastic paraplegia 9A
subset: ordo_clinical_subtype {source="Orphanet:447753"}
synonym: "AD-SPG9A" EXACT [DOID:0110824, Orphanet:447753]
synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [DOID:0110824]
synonym: "autosomal dominant spastic paraplegia 9A" EXACT [DOID:0110824]
synonym: "cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [DOID:0110824]
synonym: "cataracts with motor neuronopathy, short stature and skeletal abnormalities" EXACT [DOID:0110824]
synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" RELATED [OMIM:601162]
synonym: "hereditary spastic paraplegia type 9A" EXACT [DOID:0110824, MONDORULE:4]
synonym: "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux" EXACT [DOID:0110824]
synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162]
synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162]
synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT EXCLUDE [DOID:0110824]
synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical, OMIM:601162]
synonym: "spastic paraplegia 9A, autosomal dominant; SPG9A" RELATED [OMIM:601162]
synonym: "SPG9A" EXACT [DOID:0110824, MONDO:Lexical, OMIM:601162]
xref: DOID:0110824 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:447753", source="DOID:0110824", source="ORDO:447753/attributed", source="ORDO:447753/ntbt"}
xref: MESH:C536868 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601162 {source="Orphanet:447753", source="DOID:0110824", source="MONDO:equivalentTo", source="ORDO:447753/e"}
xref: Orphanet:447753 {source="DOID:0110824", source="MONDO:equivalentTo"}
xref: UMLS:CN237701 {source="MONDO:equivalentTo"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015091 {source="Orphanet:447753"} ! autosomal dominant spastic paraplegia type 9
is_a: MONDO:0020225 {source="Orphanet:447753"} ! syndromic cataract
property_value: exactMatch DOID:0110824
property_value: exactMatch http://identifiers.org/mesh/C536868
property_value: exactMatch http://identifiers.org/omim/601162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237701
property_value: exactMatch Orphanet:447753

[Term]
id: MONDO:0011007
name: diaphragmatic defect-limb deficiency-skull defect syndrome
def: "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." [GARD:0002397]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2141"}
synonym: "diaphragmatic defect limb deficiency skull defect" RELATED [GARD:0002397]
synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [OMIM:601163]
synonym: "froster syndrome" RELATED [OMIM:601163]
synonym: "froster-Huch syndrome" EXACT [Orphanet:2141]
xref: GARD:0002397 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2141/attributed", source="ORDO:2141/ntbt", source="Orphanet:2141"}
xref: MESH:C563380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601163 {source="GARD:0002397", source="MONDO:equivalentTo", source="ORDO:2141/e", source="Orphanet:2141"}
xref: Orphanet:2141 {source="GARD:0002397", source="MONDO:equivalentTo", source="OMIM:601163"}
xref: SCTID:721095007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0015216 {source="Orphanet:2141"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015880 {source="Orphanet:2141"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0043008 {source="Orphanet:2141"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832668
property_value: exactMatch http://identifiers.org/mesh/C563380
property_value: exactMatch http://identifiers.org/omim/601163
property_value: exactMatch http://identifiers.org/snomedct/721095007
property_value: exactMatch Orphanet:2141
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome xsd:anyURI {source="GARD:0002397"}

[Term]
id: MONDO:0011008
name: cleft lip/palate-intestinal malrotation-cardiopathy syndrome
def: "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." [Orphanet:2001]
subset: ordo_malformation_syndrome {source="Orphanet:2001"}
synonym: "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [GARD:0003430]
synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [OMIM:601165]
synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430]
synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001]
xref: GARD:0003430 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2001", source="ORDO:2001/attributed", source="ORDO:2001/ntbt"}
xref: MESH:C538160 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601165 {source="Orphanet:2001", source="ORDO:2001/e", source="MONDO:equivalentTo"}
xref: Orphanet:2001 {source="OMIM:601165", source="MONDO:equivalentTo"}
xref: SCTID:719456001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931750 {source="Orphanet:2001", source="OMIM:601165", source="ORDO:2001/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:2001"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2001"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832666
property_value: exactMatch http://identifiers.org/mesh/C538160
property_value: exactMatch http://identifiers.org/omim/601165
property_value: exactMatch http://identifiers.org/snomedct/719456001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931750
property_value: exactMatch Orphanet:2001

[Term]
id: MONDO:0011009
name: muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
synonym: "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" EXACT [OMIM:601170]
xref: MESH:C563378 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601170 {source="MONDO:equivalentTo"}
xref: UMLS:C1832665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601170"}
is_a: MONDO:0003847 {source="MESH:C563378/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563378
property_value: exactMatch http://identifiers.org/omim/601170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832665

[Term]
id: MONDO:0011010
name: Matthew-Wood syndrome
def: "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." [Orphanet:2470]
subset: ordo_malformation_syndrome {source="Orphanet:2470"}
synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [OMIM:601186]
synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [Orphanet:2470]
synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" RELATED [OMIM:601186]
synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" RELATED [GARD:0000713]
synonym: "Matthew Wood syndrome" RELATED [GARD:0000713]
synonym: "Matthew-Wood syndrome" EXACT [OMIM:601186]
synonym: "MCOPS9" EXACT [DOID:0050819, MONDO:Lexical, OMIM:601186, Orphanet:2470]
synonym: "microphthalmia syndromic 9" RELATED [GARD:0000713]
synonym: "microphthalmia syndromic type 9" EXACT [DOID:0050819]
synonym: "microphthalmia, isolated, with coloboma 8" RELATED [OMIM:601186]
synonym: "microphthalmia, syndromic 9" RELATED [MONDO:Lexical, OMIM:601186]
synonym: "microphthalmia, syndromic 9; MCOPS9" RELATED [OMIM:601186]
synonym: "microphthalmia, syndromic type 9" EXACT [MONDORULE:1, OMIM:601186]
synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" RELATED [GARD:0000713]
synonym: "pulmonary agenesis, microphthalmia, and diaphragmatic defect" RELATED [OMIM:601186]
synonym: "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect" RELATED [OMIM:601186]
synonym: "spear syndrome" RELATED [OMIM:601186]
synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470]
xref: DOID:0050819 {source="MONDO:equivalentTo"}
xref: GARD:0000713 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q11.2 {source="Orphanet:2470", source="ORDO:2470/attributed", source="ORDO:2470/ntbt"}
xref: MESH:C537768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601186 {source="DOID:0050819", source="MONDO:equivalentTo", source="Orphanet:2470", source="ORDO:2470/e"}
xref: Orphanet:2470 {source="MONDO:equivalentTo", source="OMIM:601186"}
xref: SCTID:722458000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.77"}
xref: UMLS:C1832661 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2470", source="ORDO:2470/e", source="OMIM:601186"}
is_a: MONDO:0015216 {source="Orphanet:2470"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:2470"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015880 {source="Orphanet:2470"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0015929 {source="Orphanet:2470"} ! thoracic malformation
is_a: MONDO:0015930 {source="Orphanet:2470"} ! respiratory malformation
is_a: MONDO:0016073 {source="MONDOLEX:0011010", source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia
is_a: MONDO:0043008 {source="Orphanet:2470"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2470"} ! non-syndromic respiratory or mediastinal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3540845
property_value: exactMatch DOID:0050819
property_value: exactMatch http://identifiers.org/mesh/C537768
property_value: exactMatch http://identifiers.org/omim/601186
property_value: exactMatch http://identifiers.org/snomedct/722458000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832661
property_value: exactMatch Orphanet:2470

[Term]
id: MONDO:0011011
name: skeletal dysplasia-epilepsy-short stature syndrome
def: "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." [Orphanet:1858]
subset: ordo_malformation_syndrome {source="Orphanet:1858"}
synonym: "GURRIERI syndrome" RELATED [OMIM:601187]
synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858]
synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350]
xref: GARD:0000350 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.5 {source="ORDO:1858/attributed", source="ORDO:1858/ntbt", source="Orphanet:1858"}
xref: MESH:C537625 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601187 {source="MONDO:equivalentTo", source="ORDO:1858/e", source="Orphanet:1858"}
xref: Orphanet:1858 {source="OMIM:601187", source="MONDO:equivalentTo"}
xref: SCTID:715428003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0796046 {source="OMIM:601187", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1858"}
is_a: MONDO:0000508 {source="Orphanet:1858"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019066 {source="Orphanet:1858", source="Orphanet:1858/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C537625
property_value: exactMatch http://identifiers.org/omim/601187
property_value: exactMatch http://identifiers.org/snomedct/715428003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796046
property_value: exactMatch Orphanet:1858

[Term]
id: MONDO:0011012
name: African iron overload
def: "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." [Orphanet:139507]
subset: ordo_disease {source="Orphanet:139507"}
synonym: "African iron overload" EXACT [OMIM:601195]
synonym: "Bantu siderosis" EXACT [DOID:0111033, OMIM:601195, Orphanet:139507]
synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495]
synonym: "iron overload in Africa" EXACT [DOID:0111033]
synonym: "iron overload in Africa" RELATED [OMIM:601195]
xref: DOID:0111033 {source="MONDO:equivalentTo"}
xref: GARD:0008495 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="ORDO:139507/attributed", source="ORDO:139507/ntbt", source="Orphanet:139507", source="DOID:0111033"}
xref: MESH:C537904 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="ORDO:139507/e", source="DOID:0111033"}
xref: Orphanet:139507 {source="MONDO:equivalentTo", source="DOID:0111033", source="OMIM:601195"}
xref: SCTID:66576001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.99"}
is_a: MONDO:0006507 {source="DOID:0111033", source="MONDO:Redundant", source="OMIM:601195", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268063
property_value: exactMatch DOID:0111033
property_value: exactMatch http://identifiers.org/mesh/C537904
property_value: exactMatch http://identifiers.org/omim/601195
property_value: exactMatch http://identifiers.org/snomedct/66576001
property_value: exactMatch Orphanet:139507

[Term]
id: MONDO:0011013
name: autosomal dominant hypocalcemia 1
def: "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant hypocalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hypocalcemia type 1" EXACT [DOID:0090107, MONDORULE:1]
synonym: "CASR autosomal dominant hypocalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypercalciuric hypocalcemia" RELATED [OMIM:601198]
synonym: "HYPOC1" EXACT [DOID:0090107, MONDO:Lexical, OMIM:601198]
synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:601198]
synonym: "hypocalcemia, autosomal dominant 1, with Bartter syndrome" RELATED [OMIM:601198]
synonym: "hypocalcemia, autosomal dominant 1; HYPOC1" RELATED [OMIM:601198]
synonym: "hypocalcemia, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:601198]
synonym: "hypocalcemia, familial" RELATED [OMIM:601198]
xref: DOID:0090107 {source="MONDO:equivalentTo"}
xref: OMIM:601198 {source="MONDO:equivalentTo", source="DOID:0090107"}
is_a: MONDO:0018543 {source="DOID:0090107", source="MONDO:Redundant", source="OMIM:601198"} ! autosomal dominant hypocalcemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342345
property_value: exactMatch DOID:0090107
property_value: exactMatch http://identifiers.org/omim/601198

[Term]
id: MONDO:0011014
name: pleuropulmonary blastoma
def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." [NCIT:C5669]
subset: clingen
subset: ordo_disease {source="Orphanet:64742"}
synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern]
synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric pulmonary blastoma" RELATED [MONDO:patterns/childhood]
synonym: "pleuropulmonary blastoma" EXACT [MONDO:Lexical, NCIT:C5669, OMIM:601200]
synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769]
synonym: "pleuropulmonary blastoma; PPB" RELATED [OMIM:601200]
synonym: "PPB" RELATED [MONDO:Lexical, OMIM:601200]
synonym: "PPB familial tumor and dysplasia syndrome" RELATED [OMIM:601200]
synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669]
xref: DOID:4769 {source="MONDO:equivalentTo"}
xref: EFO:0009052 {source="MONDO:equivalentTo"}
xref: GARD:0008757 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C34.1 {source="Orphanet:64742", source="ORDO:64742/btnt"}
xref: ICD10:C34.2 {source="Orphanet:64742", source="ORDO:64742/btnt"}
xref: ICD10:C34.3 {source="Orphanet:64742", source="ORDO:64742/btnt"}
xref: ICD10:C34.9 {source="Orphanet:64742", source="ORDO:64742/btnt"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8973/3 {source="NCIT:C5669"}
xref: MESH:C537516 {source="ORDO:64742/e", source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="MONDO:ontobio"}
xref: NCIT:C5669 {source="MONDO:equivalentTo", source="DOID:4769", source="exact-label-match"}
xref: OMIM:601200 {source="ORDO:64742/e", source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769"}
xref: ONCOTREE:PPB {source="MONDO:equivalentTo"}
xref: Orphanet:64742 {source="OMIM:601200", source="MONDO:equivalentTo"}
xref: SCTID:707670009 {source="MONDO:equivalentTo", source="DOID:4769", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1266144 {source="ORDO:64742/e", source="Orphanet:64742", source="OMIM:601200", source="MONDO:equivalentTo", source="DOID:4769", source="NCIT:C5669"}
xref: UMLS:CN072455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005933 {source="DOID:4769", source="MESH:C537516", source="MONDO:Redundant", source="MONDOLEX:0011014"} ! pulmonary blastoma
is_a: MONDO:0006517 ! childhood malignant neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128763002
property_value: exactMatch DOID:4769
property_value: exactMatch http://identifiers.org/mesh/C537516
property_value: exactMatch http://identifiers.org/omim/601200
property_value: exactMatch http://identifiers.org/snomedct/707670009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072455
property_value: exactMatch NCIT:C5669
property_value: exactMatch Orphanet:64742

[Term]
id: MONDO:0011015
name: cataract 24
def: "A cataract that has_material_basis_in variation in the region 17p13." [DOID:0110257, PMID:8852669]
synonym: "anterior polar cataract 2" NARROW [DOID:0110257]
synonym: "anterior polar cataract 24" NARROW [DOID:0110257]
synonym: "cataract 24" EXACT [MONDO:Lexical, OMIM:601202]
synonym: "cataract 24, anterior polar" RELATED [OMIM:601202]
synonym: "cataract 24; CTRCT24" RELATED [OMIM:601202]
synonym: "cataract type 24" EXACT [DOID:0110257, MONDORULE:2]
synonym: "cataract, anterior polar, 2" RELATED [OMIM:601202]
synonym: "CTAA2" NARROW [DOID:0110257]
synonym: "CTRCT24" EXACT [DOID:0110257, MONDO:Lexical, OMIM:601202]
xref: DOID:0110257 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110257"}
xref: MESH:C537774 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601202 {source="MONDO:equivalentTo", source="DOID:0110257"}
xref: UMLS:C1832609 {source="NCBI:mim2gene_medline", source="OMIM:601202", source="MONDO:equivalentTo"}
is_a: MONDO:0020373 {source="ORDO:98988/btnt"} ! early-onset anterior polar cataract
property_value: exactMatch DOID:0110257
property_value: exactMatch http://identifiers.org/mesh/C537774
property_value: exactMatch http://identifiers.org/omim/601202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832609

[Term]
id: MONDO:0011016
name: type 1 diabetes mellitus 11
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31." [DOID:0110750, PMID:8617492]
synonym: "diabetes mellitus, insulin-dependent, 11" RELATED [MONDO:Lexical, OMIM:601208]
synonym: "diabetes mellitus, insulin-dependent, 11; IDDM11" RELATED [OMIM:601208]
synonym: "IDDM11" EXACT [DOID:0110750, MONDO:Lexical, OMIM:601208]
synonym: "insulin-dependent diabetes mellitus 11" EXACT [DOID:0110750, OMIM:601208]
xref: DOID:0110750 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110750"}
xref: MESH:C563371 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601208 {source="MONDO:equivalentTo", source="DOID:0110750"}
xref: UMLS:C1832605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601208"}
is_a: MONDO:0005147 {source="DC-OMIM:601208", source="DOID:0110750", source="MESH:C563371", source="MONDOLEX:0011016"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110750
property_value: exactMatch http://identifiers.org/mesh/C563371
property_value: exactMatch http://identifiers.org/omim/601208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832605

[Term]
id: MONDO:0011017
name: Naxos disease
def: "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." [Orphanet:34217]
subset: gard_rare {source="GARD:0009795"}
subset: ordo_disease {source="Orphanet:34217"}
synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214]
synonym: "keratoderma with woolly hair type I" EXACT [Orphanet:34217]
synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" RELATED [GARD:0009795]
synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [OMIM:601214]
synonym: "keratosis palmoplantaris with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "KWWH type I" EXACT [Orphanet:34217]
synonym: "Mal De Naxos" RELATED [OMIM:601214]
synonym: "Naxos disease" EXACT [MONDO:Lexical, OMIM:601214]
synonym: "NAXOS disease; NXD" RELATED [OMIM:601214]
synonym: "NXD" RELATED [MONDO:Lexical, OMIM:601214]
synonym: "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" RELATED [OMIM:601214]
synonym: "palmoplantar keratoderma with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795]
synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214]
xref: GARD:0009795 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:34217", source="ORDO:34217/attributed", source="ORDO:34217/ntbt"}
xref: MESH:C538346 {source="ORDO:34217/e", source="Orphanet:34217", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601214 {source="ORDO:34217/e", source="Orphanet:34217", source="MONDO:equivalentTo"}
xref: Orphanet:34217 {source="OMIM:601214", source="MONDO:equivalentTo"}
xref: SCTID:715535009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832600 {source="ORDO:34217/e", source="Orphanet:34217", source="OMIM:601214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005217 ! familial cardiomyopathy
is_a: MONDO:0016587 {source="MESH:C538346", source="Orphanet:34217", source="linkedlifedata"} ! arrhythmogenic right ventricular cardiomyopathy
is_a: MONDO:0017671 {source="Orphanet:34217"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0018558 {source="Orphanet:34217"} ! syndrome with woolly hair
is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
property_value: exactMatch http://identifiers.org/mesh/C538346
property_value: exactMatch http://identifiers.org/omim/601214
property_value: exactMatch http://identifiers.org/snomedct/715535009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832600
property_value: exactMatch Orphanet:34217
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9795/naxos-disease xsd:anyURI {source="GARD:0009795"}

[Term]
id: MONDO:0011018
name: brachyolmia-amelogenesis imperfecta syndrome
def: "Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition." [Orphanet:2899]
subset: ordo_malformation_syndrome {source="Orphanet:2899"}
synonym: "amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478]
synonym: "DASS" EXACT [DOID:0090143]
synonym: "DASS" RELATED [MONDO:Lexical, OMIM:601216]
synonym: "dental anomalies and short stature" EXACT [DOID:0090143]
synonym: "dental anomalies and short stature" RELATED [MONDO:Lexical, OMIM:601216]
synonym: "dental anomalies and short stature; DASS" RELATED [OMIM:601216]
synonym: "platyspondyly with amelogenesis imperfecta" EXACT [DOID:0090143, OMIM:601216]
synonym: "platyspondyly-amelogenesis imperfecta syndrome" EXACT [Orphanet:2899]
synonym: "selective tooth agenesis 5" EXACT [DOID:0090143]
synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478]
synonym: "STHAG6" EXACT [DOID:0090143]
synonym: "tooth agenesis, selective, 6" EXACT [OMIM:601216]
synonym: "tooth agenesis, selective, 6, formerly" RELATED [OMIM:601216]
synonym: "Verloes Bourguignon syndrome" RELATED [GARD:0005478]
synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899]
xref: DOID:0090143 {source="MONDO:equivalentTo"}
xref: GARD:0005478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:5478 {source="DOID:0090143"}
xref: ICD10:Q76.3 {source="DOID:0090143", source="ORDO:2899/attributed", source="ORDO:2899/ntbt", source="Orphanet:2899"}
xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="ORDO:2899/e", source="Orphanet:2899"}
xref: Orphanet:2899 {source="DOID:0090143", source="MONDO:equivalentTo", source="OMIM:601216"}
xref: SCTID:716195006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0015336 {source="Orphanet:2899"} ! malformation syndrome with odontal and/or periodontal component
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832594
property_value: exactMatch DOID:0090143
property_value: exactMatch http://identifiers.org/omim/601216
property_value: exactMatch http://identifiers.org/snomedct/716195006
property_value: exactMatch Orphanet:2899

[Term]
id: MONDO:0011019
name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." [Orphanet:1014]
subset: ordo_disease {source="Orphanet:1014"}
synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [OMIM:601217]
synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014]
xref: MESH:C563370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601217 {source="ORDO:1014/e", source="Orphanet:1014", source="MONDO:equivalentTo"}
xref: Orphanet:1014 {source="MONDO:equivalentTo", source="OMIM:601217"}
xref: SCTID:720981000 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="MESH:C563370", source="Orphanet:1014", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832593
property_value: exactMatch http://identifiers.org/mesh/C563370
property_value: exactMatch http://identifiers.org/omim/601217
property_value: exactMatch http://identifiers.org/snomedct/720981000
property_value: exactMatch Orphanet:1014

[Term]
id: MONDO:0011020
name: osteoporosis-oculocutaneous hypopigmentation syndrome
def: "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." [Orphanet:2786]
subset: gard_rare {source="GARD:0000404"}
subset: ordo_malformation_syndrome {source="Orphanet:2786"}
synonym: "Hernández-Fragoso syndrome" EXACT [Orphanet:2786]
synonym: "OOCH" RELATED [MONDO:Lexical, OMIM:601220]
synonym: "OOCH syndrome" RELATED [GARD:0000404]
synonym: "OOCHS" EXACT [Orphanet:2786]
synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical, OMIM:601220]
synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome; OOCH" RELATED [OMIM:601220]
synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404]
xref: GARD:0000404 {source="MONDO:equivalentTo"}
xref: MESH:C536062 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601220 {source="Orphanet:2786", source="ORDO:2786/e", source="MONDO:equivalentTo"}
xref: Orphanet:2786 {source="OMIM:601220", source="MONDO:equivalentTo"}
xref: SCTID:722113001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832592 {source="OMIM:601220", source="Orphanet:2786", source="NCBI:mim2gene_medline", source="ORDO:2786/e", source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:2786"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/mesh/C536062
property_value: exactMatch http://identifiers.org/omim/601220
property_value: exactMatch http://identifiers.org/snomedct/722113001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832592
property_value: exactMatch Orphanet:2786
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome xsd:anyURI {source="GARD:0000404"}

[Term]
id: MONDO:0011021
name: neuronal intestinal dysplasia, type b
synonym: "neuronal intestinal dysplasia, type b" EXACT [OMIM:601223]
synonym: "nid B" RELATED [OMIM:601223]
xref: OMIM:601223 {source="MONDO:equivalentTo"}
xref: UMLS:C1832589 {source="OMIM:601223", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000858 {source="DC-OMIM:601223"} ! neuronal intestinal dysplasia
is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction
property_value: exactMatch http://identifiers.org/omim/601223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832589

[Term]
id: MONDO:0011022
name: Potocki-Shaffer syndrome
def: "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." [Orphanet:52022]
subset: ordo_malformation_syndrome {source="Orphanet:52022"}
synonym: "11p11.2 deletion" EXACT [Orphanet:52022]
synonym: "chromosome 11P11.2 deletion syndrome" RELATED [OMIM:601224]
synonym: "Defect11 syndrome" RELATED [OMIM:601224]
synonym: "deletion of chromosome 11p11.2" RELATED [GARD:0009762]
synonym: "Potocki-Shaffer syndrome" EXACT [OMIM:601224]
synonym: "proximal 11P deletion syndrome" RELATED [OMIM:601224]
synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022]
synonym: "PSS" RELATED [OMIM:601224]
xref: GARD:0009762 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:52022/attributed", source="ORDO:52022/ntbt", source="Orphanet:52022"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538356 {source="MONDO:equivalentTo", source="ORDO:52022/e", source="Orphanet:52022"}
xref: NCIT:C75456 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:601224 {source="MONDO:equivalentTo", source="ORDO:52022/e", source="Orphanet:52022"}
xref: Orphanet:52022 {source="OMIM:601224", source="MONDO:equivalentTo"}
xref: SCTID:702346005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832588 {source="NCBI:mim2gene_medline", source="OMIM:601224", source="MONDO:equivalentTo", source="NCIT:C75456", source="ORDO:52022/e", source="Orphanet:52022"}
is_a: MONDO:0016893 {source="Orphanet:52022"} ! partial deletion of the short arm of chromosome 11
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:52022"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C538356
property_value: exactMatch http://identifiers.org/omim/601224
property_value: exactMatch http://identifiers.org/snomedct/702346005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832588
property_value: exactMatch NCIT:C75456
property_value: exactMatch Orphanet:52022

[Term]
id: MONDO:0011023
name: hereditary mixed polyposis syndrome
def: "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." [Orphanet:157794]
subset: ordo_disease {source="Orphanet:157794"}
synonym: "HMPS" EXACT [Orphanet:157794]
xref: ICD10:D12.6 {source="Orphanet:157794", source="ORDO:157794/attributed", source="ORDO:157794/ntbt"}
xref: MESH:C563365 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:157794 {source="MONDO:equivalentTo"}
xref: UMLS:CN240759 {source="MONDO:equivalentTo"}
is_a: MONDO:0015185 {source="Orphanet:157794"} ! intestinal polyposis syndrome
is_a: MONDO:0018188 {source="Orphanet:157794"} ! genetic intestinal polyposis
property_value: exactMatch http://identifiers.org/mesh/C563365
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240759
property_value: exactMatch Orphanet:157794

[Term]
id: MONDO:0011024
name: dermatitis herpetiformis, familial
def: "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone ." [GARD:0001917]
subset: gard_rare
synonym: "Brocq-Duhring disease" RELATED [GARD:0001917]
synonym: "dermatitis herpetiformis, familial" EXACT [OMIM:601230]
synonym: "DH" RELATED [GARD:0001917, OMIM:601230]
synonym: "Duhring Brocq disease" RELATED [GARD:0001917]
synonym: "Duhring's disease" RELATED [GARD:0001917]
synonym: "hereditary dermatitis herpetiformis" EXACT [MONDO:patterns/hereditary]
xref: GARD:0001917 {source="MONDO:equivalentTo"}
xref: MESH:C538218 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601230 {source="MONDO:equivalentTo", source="GARD:0001917"}
xref: UMLS:C1832586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601230"}
is_a: MONDO:0015614 {source="MESH:C538218", source="MONDO:Redundant", source="ORDO:1656/btnt"} ! dermatitis herpetiformis
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0015614 ! dermatitis herpetiformis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C538218
property_value: exactMatch http://identifiers.org/omim/601230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832586
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis xsd:anyURI {source="GARD:0001917"}

[Term]
id: MONDO:0011025
name: Cayman type cerebellar ataxia
def: "Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." [Orphanet:94122]
subset: ordo_disease {source="Orphanet:94122"}
synonym: "ATCAY" RELATED [MONDO:Lexical, OMIM:601238]
synonym: "Cayman ataxia" EXACT [Orphanet:94122]
synonym: "Cayman cerebellar ataxia" EXACT [DOID:0060694]
synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238]
synonym: "cerebellar ataxia, CAYMAN type; ATCAY" RELATED [OMIM:601238]
xref: DOID:0060694 {source="MONDO:equivalentTo"}
xref: ICD10:G11.0 {source="DOID:0060694", source="Orphanet:94122", source="ORDO:94122/attributed", source="ORDO:94122/ntbt"}
xref: MESH:C563363 {source="DOID:0060694", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="ORDO:94122/e"}
xref: Orphanet:94122 {source="DOID:0060694", source="MONDO:equivalentTo", source="OMIM:601238"}
xref: SCTID:717332007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
xref: UMLS:C1832585 {source="Orphanet:94122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601238"}
is_a: MONDO:0020043 {source="Orphanet:94122"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch DOID:0060694
property_value: exactMatch http://identifiers.org/mesh/C563363
property_value: exactMatch http://identifiers.org/omim/601238
property_value: exactMatch http://identifiers.org/snomedct/717332007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832585
property_value: exactMatch Orphanet:94122

[Term]
id: MONDO:0011026
name: autosomal recessive congenital ichthyosis 4A
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI4A" EXACT [DOID:0060712, MONDO:Lexical, OMIM:601277]
synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [DOID:0060712, MONDORULE:4]
synonym: "ichthyosis congenita 2B" RELATED [OMIM:601277]
synonym: "ichthyosis congenita IIB" EXACT [DOID:0060712]
synonym: "ichthyosis lamellar 2" RELATED [GARD:0009733]
synonym: "ichthyosis, congenital, autosomal recessive 4A" RELATED [MONDO:Lexical, OMIM:601277]
synonym: "ichthyosis, congenital, autosomal recessive 4A; ARCI4A" RELATED [OMIM:601277]
synonym: "ichthyosis, congenital, autosomal recessive type 4A" EXACT [MONDORULE:4, OMIM:601277]
synonym: "ichthyosis, lamellar, 2" RELATED [OMIM:601277]
synonym: "ichthyosis, lamellar, 2, formerly" RELATED [OMIM:601277]
synonym: "ICR2B" EXACT [DOID:0060712]
synonym: "lamellar ichthyosis 2" EXACT [DOID:0060712]
synonym: "lamellar ichthyosis, type 2" RELATED [GARD:0009733]
synonym: "LI2" RELATED [GARD:0009733]
xref: DOID:0060712 {source="MONDO:equivalentTo"}
xref: GARD:0009733 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q80.2 {source="DOID:0060712"}
xref: MESH:C537264 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="MESH:C537264", source="ORDO:313/btnt"} ! lamellar ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832550
property_value: exactMatch DOID:0060712
property_value: exactMatch http://identifiers.org/mesh/C537264
property_value: exactMatch http://identifiers.org/omim/601277

[Term]
id: MONDO:0011027
name: diabetes mellitus, noninsulin-dependent, 1
synonym: "diabetes mellitus, noninsulin-dependent, 1" EXACT [MONDO:Lexical, OMIM:601283]
synonym: "diabetes mellitus, noninsulin-dependent, 1; NIDDM1" RELATED [OMIM:601283]
synonym: "diabetes mellitus, noninsulin-dependent, type 1" EXACT [MONDORULE:1, OMIM:601283]
synonym: "NIDDM1" RELATED [MONDO:Lexical, OMIM:601283]
synonym: "noninsulin-dependent diabetes mellitus 1" RELATED [OMIM:601283]
xref: MESH:C563359 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601283 {source="MONDO:equivalentTo"}
xref: UMLS:C1832544 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601283"}
is_a: MONDO:0005148 {source="DC-OMIM:601283", source="MESH:C563359", source="MONDOLEX:0011027"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C563359
property_value: exactMatch http://identifiers.org/omim/601283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832544

[Term]
id: MONDO:0011028
name: autosomal recessive limb-girdle muscular dystrophy type 2F
def: "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." [Orphanet:219]
subset: gard_rare
subset: ordo_disease {source="Orphanet:219"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern]
synonym: "delta-sarcoglycanopathy" EXACT [DOID:0110280, Orphanet:219]
synonym: "LGMD2F" EXACT [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, OMIM:601287, Orphanet:219]
synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [DOID:0110280, Orphanet:219]
synonym: "limb-girdle muscular dystrophy type 2F" RELATED [GARD:0008573]
synonym: "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" RELATED [GARD:0008573, MESH:C535896]
synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287]
synonym: "muscular dystrophy, limb-girdle, type 2F; LGMD2F" RELATED [OMIM:601287]
synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110280 {source="MONDO:equivalentTo"}
xref: GARD:0008573 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110280", source="Orphanet:219", source="ORDO:219/ntbt", source="ORDO:219/inclusion"}
xref: MESH:C535896 {source="MONDO:equivalentTo"}
xref: OMIM:601287 {source="ORDO:219/e", source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573"}
xref: Orphanet:219 {source="OMIM:601287", source="DOID:0110280", source="MONDO:equivalentTo", source="GARD:0008573"}
xref: SCTID:718177001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0015152 {source="DOID:0110280", source="MONDO:Redundant", source="MONDOLEX:0011028", source="OMIM:601287", source="Orphanet:219"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016144 {source="MONDOLEX:0011028", source="Orphanet:219"} ! qualitative or quantitative defects of delta-sarcoglycan
is_a: MONDO:0016334 {source="Orphanet:219"} ! neuromuscular disease with dilated cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832525
property_value: exactMatch DOID:0110280
property_value: exactMatch http://identifiers.org/mesh/C535896
property_value: exactMatch http://identifiers.org/omim/601287
property_value: exactMatch http://identifiers.org/snomedct/718177001
property_value: exactMatch Orphanet:219
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f xsd:anyURI {source="GARD:0008573"}

[Term]
id: MONDO:0011029
name: myeloid tumor suppressor
synonym: "myeloid leukemia-related locus" RELATED [OMIM:601308]
synonym: "myeloid tumor suppressor" EXACT [OMIM:601308]
xref: OMIM:601308 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832510
property_value: exactMatch http://identifiers.org/omim/601308

[Term]
id: MONDO:0011030
name: epithelial basolateral chloride conductance regulator, rabbit, homolog of
synonym: "Ebcr" RELATED [OMIM:601315]
synonym: "epithelial basolateral chloride conductance regulator, rabbit, homolog of" EXACT [OMIM:601315]
xref: OMIM:601315 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832477
property_value: exactMatch http://identifiers.org/omim/601315

[Term]
id: MONDO:0011031
name: autosomal dominant nonsyndromic deafness 10
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 10" EXACT [DOID:0110542]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 10" EXACT [DOID:0110542, MONDORULE:2]
synonym: "deafness, autosomal dominant 10" RELATED [MONDO:Lexical, OMIM:601316]
synonym: "deafness, autosomal dominant 10; DFNA10" RELATED [OMIM:601316]
synonym: "deafness, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:601316]
synonym: "DFNA10" EXACT [DOID:0110542, MONDO:Lexical, OMIM:601316]
synonym: "EYA4 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110542 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110542"}
xref: MESH:C563354 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601316 {source="MONDO:equivalentTo", source="DOID:0110542"}
xref: UMLS:C1832476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601316"}
is_a: MONDO:0019587 {source="DC-OMIM:601316", source="DOID:0110542", source="MONDO:Redundant", source="OMIM:601316"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110542
property_value: exactMatch http://identifiers.org/mesh/C563354
property_value: exactMatch http://identifiers.org/omim/601316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832476

[Term]
id: MONDO:0011032
name: autosomal dominant nonsyndromic deafness 11
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 11" EXACT [DOID:0110543]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 11" EXACT [DOID:0110543, MONDORULE:2]
synonym: "deafness, autosomal dominant 11" RELATED [MONDO:Lexical, OMIM:601317]
synonym: "deafness, autosomal dominant 11; DFNA11" RELATED [OMIM:601317]
synonym: "deafness, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:601317]
synonym: "DFNA11" EXACT [DOID:0110543, MONDO:Lexical, OMIM:601317]
synonym: "MYO7A autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110543 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110543"}
xref: MESH:C563353 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601317 {source="MONDO:equivalentTo", source="DOID:0110543"}
xref: UMLS:C1832475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601317"}
is_a: MONDO:0019587 {source="DC-OMIM:601317", source="DOID:0110543", source="MONDO:Redundant", source="OMIM:601317"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110543
property_value: exactMatch http://identifiers.org/mesh/C563353
property_value: exactMatch http://identifiers.org/omim/601317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832475

[Term]
id: MONDO:0011033
name: type 1 diabetes mellitus 13
def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34." [DOID:0110752, PMID:8650584]
synonym: "diabetes mellitus, insulin-dependent, 13" RELATED [MONDO:Lexical, OMIM:601318]
synonym: "diabetes mellitus, insulin-dependent, 13; IDDM13" RELATED [OMIM:601318]
synonym: "IDDM13" EXACT [DOID:0110752, MONDO:Lexical, OMIM:601318]
synonym: "insulin-dependent diabetes mellitus 13" EXACT [DOID:0110752, OMIM:601318]
xref: DOID:0110752 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110752"}
xref: MESH:C563352 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601318 {source="MONDO:equivalentTo", source="DOID:0110752"}
xref: UMLS:C1832474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601318"}
is_a: MONDO:0005147 {source="DC-OMIM:601318", source="DOID:0110752", source="MESH:C563352", source="MONDOLEX:0011033"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110752
property_value: exactMatch http://identifiers.org/mesh/C563352
property_value: exactMatch http://identifiers.org/omim/601318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832474

[Term]
id: MONDO:0011034
name: odontomicronychial dysplasia
def: "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." [Orphanet:1811]
subset: gard_rare {source="GARD:0004053"}
subset: ordo_malformation_syndrome {source="Orphanet:1811"}
synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319]
synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053]
synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319]
xref: GARD:0004053 {source="MONDO:equivalentTo"}
xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e", source="MONDO:ontobio"}
xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e"}
xref: Orphanet:1811 {source="MONDO:equivalentTo", source="OMIM:601319"}
xref: UMLS:C1832473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e", source="OMIM:601319"}
is_a: MONDO:0015336 {source="Orphanet:1811"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019285 {source="Orphanet:1811"} ! syndromic nail anomaly
property_value: exactMatch http://identifiers.org/mesh/C537741
property_value: exactMatch http://identifiers.org/omim/601319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832473
property_value: exactMatch Orphanet:1811
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia xsd:anyURI {source="GARD:0004053"}

[Term]
id: MONDO:0011035
name: neurofibromatosis-Noonan syndrome
def: "Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1; see this term) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS; see this term), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638]
subset: gard_rare {source="GARD:0000372"}
subset: ordo_malformation_syndrome {source="Orphanet:638"}
synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638]
synonym: "neurofibromatosis with Noonan phenotype" RELATED [OMIM:601321]
synonym: "neurofibromatosis-Noonan syndrome" EXACT [MONDO:Lexical, OMIM:601321]
synonym: "neurofibromatosis-Noonan syndrome; NFNS" RELATED [OMIM:601321]
synonym: "NFNS" EXACT [MONDO:Lexical, OMIM:601321, Orphanet:638]
synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372]
synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321]
xref: GARD:0000372 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:638/attributed", source="ORDO:638/ntbt", source="Orphanet:638"}
xref: MESH:C537393 {source="ORDO:638/e", source="MONDO:equivalentTo", source="Orphanet:638", source="MONDO:ontobio"}
xref: OMIM:601321 {source="ORDO:638/e", source="MONDO:equivalentTo", source="Orphanet:638"}
xref: Orphanet:638 {source="OMIM:601321", source="MONDO:equivalentTo"}
xref: SCTID:715344006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.70"}
is_a: MONDO:0019289 {source="Orphanet:638"} ! hyperpigmentation of the skin
is_a: MONDO:0020063 {source="Orphanet:638"} ! malformation syndrome with hamartosis
is_a: MONDO:0021060 {source="MONDO:cjm", source="Orphanet:textdef"} ! RASopathy
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:638"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/mesh/C537393
property_value: exactMatch http://identifiers.org/mesh/D009456
property_value: exactMatch http://identifiers.org/omim/601321
property_value: exactMatch http://identifiers.org/snomedct/715344006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931482
property_value: exactMatch Orphanet:638
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome xsd:anyURI {source="GARD:0000372"}

[Term]
id: MONDO:0011036
name: porencephaly-cerebellar hypoplasia-internal malformations syndrome
def: "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." [Orphanet:2941]
subset: ordo_malformation_syndrome {source="Orphanet:2941"}
synonym: "Bonnemann Meinecke syndrome" RELATED [GARD:0004437]
synonym: "Bonnemann-Meinecke syndrome" EXACT [Orphanet:2941]
synonym: "porencephaly cerebellar hypoplasia internal malformations" RELATED [GARD:0004437]
synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [OMIM:601322]
xref: GARD:0004437 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2941/ntbt", source="Orphanet:2941"}
xref: MESH:C536336 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601322 {source="ORDO:2941/e", source="MONDO:equivalentTo", source="Orphanet:2941"}
xref: Orphanet:2941 {source="OMIM:601322", source="MONDO:equivalentTo"}
xref: SCTID:763821001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832472 {source="OMIM:601322", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2941", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017118 {source="Orphanet:2941"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C536336
property_value: exactMatch http://identifiers.org/omim/601322
property_value: exactMatch http://identifiers.org/snomedct/763821001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832472
property_value: exactMatch Orphanet:2941

[Term]
id: MONDO:0011037
name: renal dysplasia, cystic, susceptibility to
subset: predisposition
synonym: "CYSRD" RELATED [MONDO:Lexical, OMIM:601331]
synonym: "diffuse cystic renal dysplasia" RELATED [GARD:0004658]
synonym: "renal dysplasia diffuse cystic" RELATED [GARD:0004658]
synonym: "renal dysplasia, cystic, susceptibility to" EXACT [MONDO:Lexical, OMIM:601331]
synonym: "renal dysplasia, cystic, susceptibility to; CYSRD" RELATED [OMIM:601331]
xref: GARD:0004658 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537755 {source="MONDO:equivalentTo"}
xref: OMIM:601331 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832471
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275898
property_value: exactMatch http://identifiers.org/mesh/C537755
property_value: exactMatch http://identifiers.org/omim/601331

[Term]
id: MONDO:0011038
name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
def: "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." [Orphanet:1171]
subset: ordo_disease {source="Orphanet:1171"}
synonym: "CAPOS" RELATED [MONDO:Lexical, OMIM:601338]
synonym: "CAPOS syndrome" EXACT [Orphanet:1171]
synonym: "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" RELATED [GARD:0001188]
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" RELATED [GARD:0001188]
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338]
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; CAPOS" RELATED [OMIM:601338]
xref: GARD:0001188 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535351 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601338 {source="MONDO:equivalentTo", source="ORDO:1171/e", source="Orphanet:1171"}
xref: Orphanet:1171 {source="MONDO:equivalentTo", source="OMIM:601338"}
xref: SCTID:720634003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome
is_a: MONDO:0018609 {source="MONDO:Redundant", source="Orphanet:1171"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019589 {source="Orphanet:1171"} ! syndromic genetic deafness
is_a: MONDO:0019792 {source="Orphanet:1171"} ! autosomal dominant cerebellar ataxia type I
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch http://identifiers.org/mesh/C535351
property_value: exactMatch http://identifiers.org/omim/601338
property_value: exactMatch http://identifiers.org/snomedct/720634003
property_value: exactMatch Orphanet:1171

[Term]
id: MONDO:0011039
name: atrophia maculosa varioliformis cutis, familial
synonym: "AMVC" RELATED [MONDO:Lexical, OMIM:601341]
synonym: "atrophia maculosa varioliformis cutis, familial" EXACT [MONDO:Lexical, OMIM:601341]
synonym: "atrophia MACULOSA VARIOLIFORMIS cutis, familial; AMVC" RELATED [OMIM:601341]
synonym: "varioliform macular atrophy of the skin" RELATED [OMIM:601341]
xref: MESH:C563349 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601341 {source="MONDO:equivalentTo"}
xref: UMLS:C1832465 {source="OMIM:601341", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563349/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563349
property_value: exactMatch http://identifiers.org/omim/601341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832465

[Term]
id: MONDO:0011040
name: spinal dysplasia, Anhalt type
synonym: "spinal dysplasia, Anhalt type" EXACT [OMIM:601344]
xref: MESH:C563348 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601344 {source="MONDO:equivalentTo"}
xref: UMLS:C1832464 {source="OMIM:601344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563348/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563348
property_value: exactMatch http://identifiers.org/omim/601344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832464

[Term]
id: MONDO:0011041
name: ectodermal dysplasia with natal teeth, Turnpenny type
def: "Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." [Orphanet:69083]
subset: gard_rare {source="GARD:0010526"}
subset: ordo_malformation_syndrome {source="Orphanet:69083"}
synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:0010526]
synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345]
synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345]
xref: GARD:0010526 {source="MONDO:equivalentTo"}
xref: MESH:C563347 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601345 {source="ORDO:69083/e", source="Orphanet:69083", source="MONDO:equivalentTo"}
xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"}
xref: SCTID:715576000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.87"}
xref: UMLS:C1832444 {source="NCBI:mim2gene_medline", source="OMIM:601345", source="Orphanet:69083", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:69083"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C563347", source="MONDOLEX:0011041", source="Orphanet:69083", source="linkedlifedata"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C563347
property_value: exactMatch http://identifiers.org/omim/601345
property_value: exactMatch http://identifiers.org/snomedct/715576000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832444
property_value: exactMatch Orphanet:69083
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type xsd:anyURI {source="GARD:0010526"}

[Term]
id: MONDO:0011042
name: Martinez-Frias syndrome
synonym: "Martinez-Frias syndrome" EXACT [OMIM:601346]
synonym: "Martínez-Frías syndrome" RELATED [Orphanet:137862]
synonym: "pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula" RELATED [OMIM:601346]
xref: OMIM:601346 {source="MONDO:equivalentTo"}
xref: Orphanet:137862 {source="OMIM:601346", source="MONDO:equivalentTo"}
xref: UMLS:C1832443 {source="OMIM:601346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN199270 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/601346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199270
property_value: exactMatch Orphanet:137862

[Term]
id: MONDO:0011043
name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
synonym: "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" EXACT [OMIM:601347]
xref: MESH:C563345 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601347 {source="MONDO:equivalentTo"}
xref: UMLS:C1832442 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601347"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563345
property_value: exactMatch http://identifiers.org/omim/601347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832442

[Term]
id: MONDO:0011044
name: ectrodactyly of lower limbs, congenital heart defect, and micrognathia
synonym: "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" EXACT [OMIM:601348]
xref: MESH:C563344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601348 {source="MONDO:equivalentTo"}
xref: UMLS:C1832441 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601348"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563344
property_value: exactMatch http://identifiers.org/omim/601348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832441

[Term]
id: MONDO:0011045
name: MMEP syndrome
def: "; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." [Orphanet:3434]
subset: ordo_malformation_syndrome {source="Orphanet:3434"}
synonym: "MCOPS8" EXACT [MONDO:Lexical, OMIM:601349, Orphanet:3434]
synonym: "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism" RELATED [GARD:0003693]
synonym: "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism" RELATED [OMIM:601349]
synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [Orphanet:3434]
synonym: "microphthalmia syndromic 8" RELATED [GARD:0003693]
synonym: "microphthalmia, syndromic 8" RELATED [MONDO:Lexical, OMIM:601349]
synonym: "microphthalmia, syndromic 8; MCOPS8" RELATED [OMIM:601349]
synonym: "MMEP" RELATED [GARD:0003693]
synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434]
synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693]
synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434]
xref: GARD:0003693 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3434", source="ORDO:3434/attributed", source="ORDO:3434/ntbt"}
xref: MESH:C537686 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601349 {source="ORDO:3434/e", source="Orphanet:3434", source="MONDO:equivalentTo"}
xref: Orphanet:3434 {source="MONDO:equivalentTo", source="OMIM:601349"}
xref: SCTID:715533002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.68"}
xref: UMLS:C1832440 {source="NCBI:mim2gene_medline", source="Orphanet:3434", source="MONDO:equivalentTo", source="OMIM:601349", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4275099 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3434", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="DC-OMIM:601349", source="MONDOLEX:0011045", source="OMIM:601349", source="Orphanet:3434"} ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C537686
property_value: exactMatch http://identifiers.org/omim/601349
property_value: exactMatch http://identifiers.org/snomedct/715533002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275099
property_value: exactMatch Orphanet:3434

[Term]
id: MONDO:0011046
name: short stature, Brussels type
def: "This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." [Orphanet:2867]
subset: ordo_malformation_syndrome {source="Orphanet:2867"}
synonym: "familial short stature with facial dysmorphism and osteochondrodysplastic lesions" RELATED [GARD:0004838]
synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838]
synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867]
synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350]
xref: GARD:0004838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:2867/attributed", source="ORDO:2867/ntbt", source="Orphanet:2867"}
xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e", source="MONDO:ontobio"}
xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e"}
xref: Orphanet:2867 {source="MONDO:equivalentTo", source="OMIM:601350"}
xref: SCTID:719213009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C1832439 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e", source="OMIM:601350"}
is_a: MONDO:0019708 {source="Orphanet:2867"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/mesh/C537121
property_value: exactMatch http://identifiers.org/omim/601350
property_value: exactMatch http://identifiers.org/snomedct/719213009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832439
property_value: exactMatch Orphanet:2867

[Term]
id: MONDO:0011047
name: deafness-epiphyseal dysplasia-short stature syndrome
def: "This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." [Orphanet:3218]
subset: ordo_malformation_syndrome {source="Orphanet:3218"}
synonym: "chitty-Hall-Baraitser syndrome" EXACT [Orphanet:3218]
synonym: "deafness, epiphyseal dysplasia, short stature" RELATED [GARD:0001688]
synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmental delay" RELATED [GARD:0001688]
synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351]
xref: GARD:0001688 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535928 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601351 {source="MONDO:equivalentTo", source="ORDO:3218/e", source="Orphanet:3218"}
xref: Orphanet:3218 {source="MONDO:equivalentTo", source="OMIM:601351"}
xref: SCTID:716238003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C1832438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3218", source="OMIM:601351"}
is_a: MONDO:0019589 {source="Orphanet:3218"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535928
property_value: exactMatch http://identifiers.org/omim/601351
property_value: exactMatch http://identifiers.org/snomedct/716238003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832438
property_value: exactMatch Orphanet:3218

[Term]
id: MONDO:0011048
name: epilepsy-microcephaly-skeletal dysplasia syndrome
def: "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." [Orphanet:1948]
subset: ordo_malformation_syndrome {source="Orphanet:1948"}
synonym: "Battaglia-Neri syndrome" EXACT [Orphanet:1948]
synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836]
synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352]
xref: GARD:0000836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:1948/attributed", source="ORDO:1948/ntbt", source="Orphanet:1948"}
xref: OMIM:601352 {source="MONDO:equivalentTo", source="ORDO:1948/e", source="Orphanet:1948"}
xref: Orphanet:1948 {source="OMIM:601352", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1948", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1948"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832437
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931579
property_value: exactMatch http://identifiers.org/mesh/C537662
property_value: exactMatch http://identifiers.org/omim/601352
property_value: exactMatch Orphanet:1948

[Term]
id: MONDO:0011049
name: fine-Lubinsky syndrome
def: "Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." [Orphanet:1272]
subset: gard_rare {source="GARD:0000958"}
subset: ordo_malformation_syndrome {source="Orphanet:1272"}
synonym: "brachycephaly, deafness, cataract and mental retardation" RELATED [GARD:0000958]
synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED [OMIM:601353]
synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272]
synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353]
xref: GARD:0000958 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1272/attributed", source="ORDO:1272/ntbt", source="Orphanet:1272"}
xref: MESH:C537933 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1272/e", source="Orphanet:1272"}
xref: OMIM:601353 {source="MONDO:equivalentTo", source="ORDO:1272/e", source="Orphanet:1272"}
xref: Orphanet:1272 {source="OMIM:601353", source="MONDO:equivalentTo"}
xref: SCTID:720955004 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0795941 {source="OMIM:601353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1272/e", source="Orphanet:1272"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1272", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1272"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020225 {source="Orphanet:1272"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C537933
property_value: exactMatch http://identifiers.org/omim/601353
property_value: exactMatch http://identifiers.org/snomedct/720955004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795941
property_value: exactMatch Orphanet:1272
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome xsd:anyURI {source="GARD:0000958"}

[Term]
id: MONDO:0011050
name: microcephaly-cardiac defect-lung malsegmentation syndrome
def: "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." [Orphanet:2516]
subset: ordo_malformation_syndrome {source="Orphanet:2516"}
synonym: "Ellis Yale Winter syndrome" RELATED [GARD:0002098]
synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516]
synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098]
synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355]
xref: GARD:0002098 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:2516/attributed", source="ORDO:2516/ntbt", source="Orphanet:2516"}
xref: MESH:C563341 {source="MONDO:equivalentTo"}
xref: OMIM:601355 {source="MONDO:equivalentTo", source="ORDO:2516/e", source="Orphanet:2516"}
xref: Orphanet:2516 {source="OMIM:601355", source="MONDO:equivalentTo"}
xref: SCTID:719379001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0015506 {source="Orphanet:2516"} ! rare syndrome with cardiac malformations
is_a: MONDO:0043008 {source="Orphanet:2516"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832436
property_value: exactMatch http://identifiers.org/mesh/C563341
property_value: exactMatch http://identifiers.org/omim/601355
property_value: exactMatch http://identifiers.org/snomedct/719379001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931129
property_value: exactMatch Orphanet:2516

[Term]
id: MONDO:0011051
name: lethal short-limb skeletal dysplasia, Al Gazali type
subset: gard_rare {source="GARD:0004827"}
synonym: "lethal neonatal short limb dwarfism" RELATED [GARD:0004827]
synonym: "lethal short limb skeletal dysplasia Al Gazali type" RELATED [GARD:0004827]
synonym: "lethal short-limb skeletal dysplasia, Al Gazali type" EXACT [OMIM:601356]
xref: GARD:0004827 {source="MONDO:equivalentTo"}
xref: MESH:C537598 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601356 {source="MONDO:equivalentTo"}
xref: UMLS:C1832435 {source="NCBI:mim2gene_medline", source="OMIM:601356", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C537598/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537598
property_value: exactMatch http://identifiers.org/omim/601356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832435
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type xsd:anyURI {source="GARD:0004827"}

[Term]
id: MONDO:0011052
name: amelia cleft lip palate hydrocephalus iris coloboma
subset: gard_rare
synonym: "ACLH" RELATED [MONDO:Lexical, OMIM:601357]
synonym: "amelia cleft lip palate hydrocephalus iris coloboma" EXACT [MONDO:0022434]
synonym: "bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele" RELATED [GARD:0000388]
synonym: "brachial AMELIA, cleft LIP, and holoprosencephaly" RELATED [MONDO:Lexical, OMIM:601357]
synonym: "brachial AMELIA, cleft LIP, and holoprosencephaly; ACLH" RELATED [OMIM:601357]
synonym: "brachial amelia, forebrain defects and facial clefts" RELATED [GARD:0000388]
synonym: "brachial amelia, forebrain defects, and Facial clefts" RELATED [OMIM:601357]
xref: GARD:0000388 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: GARD:0000641 {source="MONDO:equivalentTo"}
xref: MESH:C536713 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601357 {source="MONDO:equivalentTo"}
xref: UMLS:C1832434 {source="OMIM:601357", source="GARD:0000641", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536713
property_value: exactMatch http://identifiers.org/omim/601357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832434
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma xsd:anyURI {source="GARD:0000641"}

[Term]
id: MONDO:0011053
name: intellectual disability-sparse hair-brachydactyly syndrome
def: "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." [Orphanet:3051]
subset: ordo_malformation_syndrome {source="Orphanet:3051"}
synonym: "NBs" RELATED [OMIM:601358]
synonym: "NCBRS" RELATED [MONDO:Lexical, OMIM:601358]
synonym: "NICOLAIDES-Baraitser syndrome" RELATED [MONDO:Lexical, OMIM:601358]
synonym: "Nicolaides-Baraitser syndrome" EXACT [Orphanet:3051]
synonym: "NICOLAIDES-Baraitser syndrome; NCBRS" RELATED [OMIM:601358]
synonym: "sparse hair and mental retardation" RELATED [OMIM:601358]
xref: GARD:0000270 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536116 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601358 {source="MONDO:equivalentTo", source="Orphanet:3051", source="ORDO:3051/e"}
xref: Orphanet:3051 {source="MONDO:equivalentTo", source="OMIM:601358"}
xref: SCTID:401046009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1303073 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601358", source="Orphanet:3051"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3051", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536116
property_value: exactMatch http://identifiers.org/omim/601358
property_value: exactMatch http://identifiers.org/snomedct/401046009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1303073
property_value: exactMatch Orphanet:3051

[Term]
id: MONDO:0011054
name: autosomal recessive amelia
def: "Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents." [Orphanet:1027]
subset: ordo_malformation_syndrome {source="Orphanet:1027"}
synonym: "amelia, autosomal recessive" RELATED [OMIM:601360]
xref: ICD10:Q73.0 {source="ORDO:1027/attributed", source="ORDO:1027/ntbt", source="Orphanet:1027"}
xref: MESH:C563338 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601360 {source="ORDO:1027/e", source="MONDO:equivalentTo", source="Orphanet:1027"}
xref: Orphanet:1027 {source="MONDO:equivalentTo", source="OMIM:601360"}
xref: SCTID:726735000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832432 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1027", source="OMIM:601360"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017432 {source="Orphanet:1027"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1027", source="Orphanet:1027/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C563338
property_value: exactMatch http://identifiers.org/omim/601360
property_value: exactMatch http://identifiers.org/snomedct/726735000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832432
property_value: exactMatch Orphanet:1027

[Term]
id: MONDO:0011055
name: distal monosomy 10p
def: "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." [Orphanet:1580]
subset: ordo_malformation_syndrome {source="Orphanet:1580"}
synonym: "10p deletion" RELATED [GARD:0001323]
synonym: "10p monosomy" RELATED [GARD:0001323]
synonym: "10p13-p14 Deletion syndrome" EXACT [NCIT:C130982]
synonym: "chromosome 10p deletion" RELATED [GARD:0001323]
synonym: "deletion 10p" RELATED [GARD:0001323]
synonym: "Dgs2" RELATED [OMIM:601362]
synonym: "DiGeorge syndrome type 2" EXACT [NCIT:C130982]
synonym: "DiGeorge syndrome/velocardiofacial syndrome complex 2" RELATED [OMIM:601362]
synonym: "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" EXACT [MONDORULE:1, OMIM:601362]
synonym: "distal 10p deletion" EXACT [Orphanet:1580]
synonym: "distal monosomy type 10p" EXACT [MONDORULE:4, Orphanet:1580]
synonym: "monosomy 10p" RELATED [GARD:0001323]
synonym: "monosomy 10pter" EXACT [Orphanet:1580]
synonym: "partial monosomy 10p" RELATED [GARD:0001323]
synonym: "telomeric deletion 10p" EXACT [Orphanet:1580]
xref: GARD:0001323 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="ORDO:1580/attributed", source="ORDO:1580/ntbt", source="Orphanet:1580"}
xref: MESH:C563337 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C130982 {source="MONDO:equivalentTo"}
xref: OMIM:601362 {source="MONDO:equivalentTo", source="ORDO:1580/e", source="Orphanet:1580"}
xref: Orphanet:1580 {source="MONDO:equivalentTo", source="OMIM:601362"}
xref: SCTID:719686003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832431 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601362", source="Orphanet:1580"}
xref: UMLS:C4304502 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016892 {source="Orphanet:1580"} ! partial deletion of the short arm of chromosome 10
property_value: exactMatch http://identifiers.org/mesh/C563337
property_value: exactMatch http://identifiers.org/omim/601362
property_value: exactMatch http://identifiers.org/snomedct/719686003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304502
property_value: exactMatch NCIT:C130982
property_value: exactMatch Orphanet:1580

[Term]
id: MONDO:0011056
name: Wilms tumor 4
synonym: "familial Wilms tumor 1" RELATED [OMIM:601363]
synonym: "Wilms tumor 4" EXACT [OMIM:601363]
synonym: "Wilms tumor 4; WT4" RELATED [OMIM:601363]
synonym: "Wilms tumor type 4" EXACT [MONDORULE:1, OMIM:601363]
synonym: "WT4" RELATED [OMIM:601363]
xref: MESH:C563336 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601363 {source="MONDO:equivalentTo"}
xref: UMLS:C1832426 {source="OMIM:601363", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:601363", source="MONDOLEX:0011056"} ! kidney Wilms tumor
property_value: exactMatch http://identifiers.org/mesh/C563336
property_value: exactMatch http://identifiers.org/omim/601363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832426

[Term]
id: MONDO:0011057
name: cerebrovascular disorder
def: "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." [NCIT:C2938]
synonym: "cerebral infarction" NARROW [OMIM:601367]
synonym: "cerebrovascular accident" NARROW [DOID:6713]
synonym: "cerebrovascular disease" EXACT [NCIT:C2938]
synonym: "cerebrovascular disorder" EXACT [DOID:6713, NCIT:C2938]
synonym: "CVA" NARROW [DOID:6713]
synonym: "CVA (cerebral vascular accident)" NARROW [CSP2005:0617-5539, DOID:6713]
synonym: "stroke" NARROW [DOID:6713]
xref: DOID:6713 {source="EFO:0003763", source="MONDO:equivalentTo"}
xref: EFO:0003763 {source="MONDO:equivalentTo"}
xref: ICD10:I60-I69 {source="DOID:6713"}
xref: ICD10:I60.I69 {source="MONDO:equivalentTo"}
xref: ICD10:I63.9 {source="DOID:6713"}
xref: ICD10:I67.9 {source="DOID:6713"}
xref: ICD9:430-438.99 {source="EFO:0003763", source="DOID:6713"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:437.9 {source="MONDO:equivalentTo", source="DOID:6713", source="i2s"}
xref: MESH:D002561 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: NCIT:C2938 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: SCTID:62914000 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: UMLS:C0007820 {source="NCIT:C2938", source="MONDO:equivalentTo", source="DOID:6713"}
is_a: MONDO:0005560 {source="DOID:6713", source="MESH:D002561", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! brain disease
is_a: MONDO:0020676 ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
relationship: excluded_subClassOf MONDO:0000473 {source="DOID:6713"} ! arterial disorder
property_value: closeMatch http://identifiers.org/snomedct/155388006
property_value: closeMatch http://identifiers.org/snomedct/155405006
property_value: closeMatch http://identifiers.org/snomedct/155412002
property_value: closeMatch http://identifiers.org/snomedct/195208004
property_value: closeMatch http://identifiers.org/snomedct/195249004
property_value: closeMatch http://identifiers.org/snomedct/195595007
property_value: closeMatch http://identifiers.org/snomedct/266312006
property_value: closeMatch http://identifiers.org/snomedct/266315008
property_value: closeMatch http://identifiers.org/snomedct/270883006
property_value: closeMatch http://identifiers.org/snomedct/313267000
property_value: closeMatch http://identifiers.org/snomedct/82797006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038454
property_value: exactMatch DOID:6713
property_value: exactMatch http://identifiers.org/mesh/D002561
property_value: exactMatch http://identifiers.org/snomedct/62914000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007820
property_value: exactMatch NCIT:C2938

[Term]
id: MONDO:0011058
name: autosomal dominant nonsyndromic deafness 9
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 9" EXACT [DOID:0110593]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 9" EXACT [DOID:0110593, MONDORULE:1]
synonym: "COCH autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 9" RELATED [MONDO:Lexical, OMIM:601369]
synonym: "deafness, autosomal dominant 9; DFNA9" RELATED [OMIM:601369]
synonym: "deafness, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:601369]
synonym: "DFNA9" EXACT [DOID:0110593, MONDO:Lexical, OMIM:601369]
xref: DOID:0110593 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110593"}
xref: MESH:C563335 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601369 {source="MONDO:equivalentTo", source="DOID:0110593"}
xref: UMLS:C1832425 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601369"}
is_a: MONDO:0019587 {source="DC-OMIM:601369", source="DOID:0110593", source="MONDO:Redundant", source="OMIM:601369"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110593
property_value: exactMatch http://identifiers.org/mesh/C563335
property_value: exactMatch http://identifiers.org/omim/601369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832425

[Term]
id: MONDO:0011059
name: holoprosencephaly-craniosynostosis syndrome
def: "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." [Orphanet:2163]
subset: ordo_malformation_syndrome {source="Orphanet:2163"}
synonym: "camera Lituania Cohen syndrome" RELATED [GARD:0002454]
synonym: "Camero-Lituania-Cohen syndrome" EXACT [Orphanet:2163]
synonym: "Genoa syndrome" EXACT [OMIM:601370, Orphanet:2163]
synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454]
synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370]
synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454]
xref: GARD:0002454 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.2 {source="MONDO:relatedTo", source="ORDO:2163/attributed", source="ORDO:2163/ntbt", source="Orphanet:2163"}
xref: MESH:C537684 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601370 {source="MONDO:equivalentTo", source="ORDO:2163/e", source="Orphanet:2163"}
xref: Orphanet:2163 {source="MONDO:equivalentTo", source="OMIM:601370"}
xref: SCTID:715434005 {source="MONDO:kboom-pr-1.00/0.74/6.07", source="MONDO:equivalentTo"}
xref: UMLS:C1832424 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2163/e", source="OMIM:601370", source="Orphanet:2163"}
is_a: MONDO:0015338 {source="Orphanet:2163"} ! syndromic craniosynostosis
is_a: MONDO:0017120 {source="Orphanet:2163"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C537684
property_value: exactMatch http://identifiers.org/omim/601370
property_value: exactMatch http://identifiers.org/snomedct/715434005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832424
property_value: exactMatch Orphanet:2163

[Term]
id: MONDO:0011060
name: early-onset non-syndromic cataract
def: "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." [Orphanet:91492]
comment: Not in the OMIM series. {source="OMIM:601371"}
subset: ordo_disease {source="Orphanet:91492"}
synonym: "cataract, age-related nuclear" RELATED [OMIM:601371]
synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371]
xref: ICD10:Q12.0 {source="Orphanet:91492", source="ORDO:91492/specific", source="ORDO:91492/e"}
xref: OMIM:601371 {source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="MONDO:equivalentTo", source="OMIM:601371"}
xref: UMLS:C1832423 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601371"}
is_a: MONDO:0005129 {source="Orphanet:91492", source="Orphanet:91492/inferred"} ! cataract (disease)
is_a: MONDO:0015217 {source="Orphanet:91492"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/omim/601371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832423
property_value: exactMatch Orphanet:91492

[Term]
id: MONDO:0011061
name: chorea, remitting, with nystagmus and cataract
synonym: "chorea, remitting with nystagmus and cataracts" RELATED [GARD:0009606]
synonym: "chorea, remitting, with nystagmus and cataract" EXACT [OMIM:601372]
synonym: "familial remitting chorea, nystagmus and cataracts" RELATED [GARD:0009606]
xref: GARD:0009606 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535355 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601372 {source="MONDO:equivalentTo"}
xref: UMLS:C1832422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601372"}
is_a: MONDO:0001595 {source="DC-OMIM:601372"} ! choreatic disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C535355
property_value: exactMatch http://identifiers.org/omim/601372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832422

[Term]
id: MONDO:0011062
name: aprosencephaly cerebellar dysgenesis
subset: ordo_malformation_syndrome {source="Orphanet:1126"}
synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374]
xref: ICD10:Q04.3 {source="ORDO:1126/attributed", source="ORDO:1126/ntbt", source="Orphanet:1126"}
xref: MESH:C563331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601374 {source="ORDO:1126/e", source="MONDO:equivalentTo", source="Orphanet:1126"}
xref: Orphanet:1126 {source="OMIM:601374", source="MONDO:equivalentTo"}
xref: UMLS:C1832412 {source="OMIM:601374", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1126"}
is_a: MONDO:0017090 {source="Orphanet:1126"} ! midline cerebral malformation
property_value: exactMatch http://identifiers.org/mesh/C563331
property_value: exactMatch http://identifiers.org/omim/601374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832412
property_value: exactMatch Orphanet:1126

[Term]
id: MONDO:0011063
name: hidrotic ectodermal dysplasia, Christianson-Fourie type
def: "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." [Orphanet:1808]
subset: gard_rare {source="GARD:0002682"}
subset: ordo_malformation_syndrome {source="Orphanet:1808"}
synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808]
synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375]
xref: GARD:0002682 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:1808", source="ORDO:1808/attributed", source="ORDO:1808/ntbt"}
xref: MESH:C536180 {source="Orphanet:1808", source="ORDO:1808/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601375 {source="Orphanet:1808", source="ORDO:1808/e", source="MONDO:equivalentTo"}
xref: Orphanet:1808 {source="OMIM:601375", source="MONDO:equivalentTo"}
xref: UMLS:C1832411 {source="OMIM:601375", source="Orphanet:1808", source="ORDO:1808/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019287 {source="MESH:C536180", source="MONDOLEX:0011063", source="Orphanet:1808"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536180
property_value: exactMatch http://identifiers.org/omim/601375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832411
property_value: exactMatch Orphanet:1808
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type xsd:anyURI {source="GARD:0002682"}

[Term]
id: MONDO:0011064
name: lethal chondrodysplasia, Seller type
subset: gard_rare {source="GARD:0003226"}
subset: ordo_malformation_syndrome {source="Orphanet:1421"}
synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376]
synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226]
xref: GARD:0003226 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:1421", source="ORDO:1421/attributed", source="ORDO:1421/ntbt"}
xref: MESH:C563330 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601376 {source="ORDO:1421/e", source="Orphanet:1421", source="MONDO:equivalentTo"}
xref: Orphanet:1421 {source="OMIM:601376", source="MONDO:equivalentTo"}
xref: UMLS:C1832410 {source="OMIM:601376", source="NCBI:mim2gene_medline", source="Orphanet:1421", source="MONDO:equivalentTo"}
is_a: MONDO:0019718 {source="Orphanet:1421"} ! lethal chondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C563330
property_value: exactMatch http://identifiers.org/omim/601376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832410
property_value: exactMatch Orphanet:1421
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type xsd:anyURI {source="GARD:0003226"}

[Term]
id: MONDO:0011065
name: Hunter-McAlpine craniosynostosis
def: "Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." [Orphanet:97340]
subset: ordo_malformation_syndrome {source="Orphanet:97340"}
synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" RELATED [GARD:0002754]
synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379]
synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754]
xref: GARD:0002754 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:97340/attributed", source="ORDO:97340/ntbt", source="Orphanet:97340"}
xref: MESH:C536072 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:97340/e", source="Orphanet:97340"}
xref: OMIM:601379 {source="MONDO:equivalentTo", source="ORDO:97340/e", source="Orphanet:97340"}
xref: Orphanet:97340 {source="OMIM:601379", source="MONDO:equivalentTo"}
xref: SCTID:721227001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.78"}
xref: UMLS:C1832408 {source="OMIM:601379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:97340/e", source="Orphanet:97340"}
is_a: MONDO:0015338 {source="Orphanet:97340"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C536072
property_value: exactMatch http://identifiers.org/omim/601379
property_value: exactMatch http://identifiers.org/snomedct/721227001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832408
property_value: exactMatch Orphanet:97340

[Term]
id: MONDO:0011066
name: Charcot-Marie-Tooth disease type 4B1
def: "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." [Orphanet:99955]
subset: gard_rare {source="GARD:0001253"}
subset: ordo_disease {source="Orphanet:99955"}
synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191]
synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [OMIM:601382]
synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [OMIM:601382]
synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical, OMIM:601382]
synonym: "Charcot-Marie-Tooth disease, type 4B1; CMT4B1" RELATED [OMIM:601382]
synonym: "Charcot-Marie-Tooth neuropathy type 4B1" EXACT [DOID:0110191]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [OMIM:601382]
synonym: "CMT 4B" RELATED [GARD:0001253]
synonym: "CMT 4B1" RELATED [GARD:0001253]
synonym: "CMT4B1" EXACT [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955]
synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110191 {source="MONDO:equivalentTo"}
xref: GARD:0001253 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99955", source="DOID:0110191", source="ORDO:99955/attributed", source="ORDO:99955/ntbt"}
xref: MESH:C535420 {source="ORDO:99955/e", source="Orphanet:99955", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601382 {source="ORDO:99955/e", source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo"}
xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"}
xref: SCTID:715803003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832399 {source="ORDO:99955/e", source="Orphanet:99955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601382"}
is_a: MONDO:0018995 {source="DOID:0110191", source="MONDO:Redundant", source="Orphanet:99955", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110191
property_value: exactMatch http://identifiers.org/mesh/C535420
property_value: exactMatch http://identifiers.org/omim/601382
property_value: exactMatch http://identifiers.org/snomedct/715803003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832399
property_value: exactMatch Orphanet:99955
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 xsd:anyURI {source="GARD:0001253"}

[Term]
id: MONDO:0011067
name: autosomal recessive nonsyndromic deafness 12
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22." [DOID:0110467, PMID:11090341]
synonym: "autosomal recessive deafness 12" EXACT [DOID:0110467]
synonym: "autosomal recessive nonsyndromic deafness type 12" EXACT [DOID:0110467, MONDORULE:2]
synonym: "deafness, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:601386]
synonym: "deafness, autosomal recessive 12; DFNB12" RELATED [OMIM:601386]
synonym: "deafness, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:601386]
synonym: "DFNB12" EXACT [DOID:0110467, MONDO:Lexical, OMIM:601386]
xref: DOID:0110467 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110467"}
xref: MESH:C563327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601386 {source="DOID:0110467", source="MONDO:equivalentTo"}
xref: UMLS:C1832394 {source="OMIM:601386", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:601386", source="DOID:0110467", source="MONDO:Redundant", source="OMIM:601386"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110467
property_value: exactMatch http://identifiers.org/mesh/C563327
property_value: exactMatch http://identifiers.org/omim/601386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832394

[Term]
id: MONDO:0011068
name: type 1 diabetes mellitus 12
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CTLA4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 12" RELATED [MONDO:Lexical, OMIM:601388]
synonym: "diabetes mellitus, insulin-dependent, 12; IDDM12" RELATED [OMIM:601388]
synonym: "diabetes mellitus, insulin-dependent, type 12" EXACT [MONDORULE:2, OMIM:601388]
synonym: "IDDM12" EXACT [DOID:0110751, MONDO:Lexical, OMIM:601388]
synonym: "insulin-dependent diabetes mellitus 12" EXACT [DOID:0110751, OMIM:601388]
synonym: "type 1 diabetes mellitus caused by mutation in CTLA4" EXACT [MONDO:design_pattern]
xref: DOID:0110751 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110751"}
xref: MESH:C563326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601388 {source="MONDO:equivalentTo", source="DOID:0110751"}
xref: UMLS:C1832392 {source="OMIM:601388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:601388", source="DOID:0110751", source="MESH:C563326", source="MONDO:Redundant", source="MONDOLEX:0011068"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110751
property_value: exactMatch http://identifiers.org/mesh/C563326
property_value: exactMatch http://identifiers.org/omim/601388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832392

[Term]
id: MONDO:0011069
name: cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
subset: gard_rare {source="GARD:0001227"}
synonym: "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" EXACT [OMIM:601389]
synonym: "cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction" RELATED [GARD:0001227]
synonym: "Frydman Cohen Ashkenazi syndrome" RELATED [GARD:0001227]
xref: GARD:0001227 {source="MONDO:equivalentTo"}
xref: MESH:C538072 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601389 {source="MONDO:equivalentTo"}
xref: UMLS:C1832391 {source="NCBI:mim2gene_medline", source="OMIM:601389", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538072
property_value: exactMatch http://identifiers.org/omim/601389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832391
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction xsd:anyURI {source="GARD:0001227"}

[Term]
id: MONDO:0011070
name: van Maldergem syndrome 1
def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cerebrofacioarticular syndrome" RELATED [OMIM:601390]
synonym: "DCHS1 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "van Maldergem syndrome 1" EXACT [MONDO:Lexical, OMIM:601390]
synonym: "VAN Maldergem syndrome 1; VMLDS1" RELATED [OMIM:601390]
synonym: "van Maldergem syndrome caused by mutation in DCHS1" EXACT [MONDO:design_pattern]
synonym: "Van Maldergem syndrome type 1" EXACT [MONDORULE:1, OMIM:601390]
synonym: "VMLDS1" RELATED [MONDO:Lexical, OMIM:601390]
xref: OMIM:601390 {source="MONDO:equivalentTo"}
is_a: MONDO:0017813 {source="DC-OMIM:601390", source="MONDO:Redundant", source="OMIM:601390"} ! van Maldergem syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832390
property_value: exactMatch http://identifiers.org/omim/601390

[Term]
id: MONDO:0011071
name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
def: "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." [https://clinicalgenome.org/affiliation/50034/, PMID:28600339]
subset: ordo_disease {source="Orphanet:71290"}
synonym: "asprin-like platelet disorder" RELATED EXCLUDE [GARD:0010352]
synonym: "familial platelet disorder with associated myeloid malignancy" EXACT EXCLUDE [Orphanet:71290]
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT EXCLUDE [Orphanet:71290]
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED EXCLUDE [GARD:0010352]
synonym: "FPD/AML syndrome" EXACT EXCLUDE [Orphanet:71290]
synonym: "FPDMM" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399]
synonym: "FPS/AML syndrome" EXACT EXCLUDE [Orphanet:71290]
synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy; FPDMM" RELATED EXCLUDE [OMIM:601399]
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399]
xref: GARD:0010352 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.4 {source="ORDO:71290/attributed", source="ORDO:71290/ntbt", source="Orphanet:71290"}
xref: MESH:C563324 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"}
xref: SCTID:725034002 {source="MONDO:equivalentTo"}
xref: UMLS:C1832388 {source="OMIM:601399", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:71290", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015356 {source="Orphanet:71290"} ! hereditary neoplastic syndrome
is_a: MONDO:0018796 {source="Orphanet:71290"} ! isolated constitutional thrombocytopenia
is_a: MONDO:0020118 {source="Orphanet:71290"} ! dense granule disease
property_value: exactMatch http://identifiers.org/mesh/C563324
property_value: exactMatch http://identifiers.org/snomedct/725034002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832388
property_value: exactMatch Orphanet:71290

[Term]
id: MONDO:0011072
name: NIDDM2
synonym: "diabetes mellitus, noninsulin-dependent, 2" RELATED [MONDO:Lexical, OMIM:601407]
synonym: "diabetes mellitus, noninsulin-dependent, 2; NIDDM2" RELATED [OMIM:601407]
synonym: "NIDDM2" EXACT [MONDO:Lexical, OMIM:601407]
synonym: "noninsulin-dependent diabetes mellitus 2" RELATED [OMIM:601407]
xref: MESH:C563323 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601407 {source="MONDO:equivalentTo"}
xref: UMLS:C1832387 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601407"}
is_a: MONDO:0005148 {source="DC-OMIM:601407", source="MESH:C563323", source="MONDOLEX:0011072"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C563323
property_value: exactMatch http://identifiers.org/omim/601407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832387

[Term]
id: MONDO:0011073
name: diabetes mellitus, transient neonatal, 1
synonym: "diabetes mellitus, transient neonatal, 1" EXACT [OMIM:601410]
synonym: "diabetes mellitus, transient neonatal, type 1" EXACT [MONDORULE:1, OMIM:601410]
synonym: "Dmtn" RELATED [OMIM:601410]
synonym: "Tndm" RELATED [OMIM:601410]
synonym: "Tndm1" RELATED [OMIM:601410]
xref: MESH:C563322 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601410 {source="MONDO:equivalentTo"}
xref: SCTID:609579009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.47"}
is_a: MONDO:0020525 {source="DC-OMIM:601410", source="MONDOLEX:0011073", source="linkedlifedata"} ! transient neonatal diabetes mellitus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832386
property_value: exactMatch http://identifiers.org/mesh/C563322
property_value: exactMatch http://identifiers.org/omim/601410
property_value: exactMatch http://identifiers.org/snomedct/609579009

[Term]
id: MONDO:0011074
name: autosomal dominant nonsyndromic deafness 7
def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23." [DOID:0110591, PMID:8842739]
synonym: "autosomal dominant deafness 7" EXACT [DOID:0110591]
synonym: "autosomal dominant nonsyndromic deafness type 7" EXACT [DOID:0110591, MONDORULE:1]
synonym: "deafness, autosomal dominant 7" RELATED [MONDO:Lexical, OMIM:601412]
synonym: "deafness, autosomal dominant 7; DFNA7" RELATED [OMIM:601412]
synonym: "DFNA7" EXACT [DOID:0110591, MONDO:Lexical, OMIM:601412]
xref: DOID:0110591 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110591"}
xref: MESH:C563321 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601412 {source="MONDO:equivalentTo", source="DOID:0110591"}
xref: UMLS:C1832379 {source="OMIM:601412", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:601412", source="DOID:0110591", source="OMIM:601412"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110591
property_value: exactMatch http://identifiers.org/mesh/C563321
property_value: exactMatch http://identifiers.org/omim/601412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832379

[Term]
id: MONDO:0011075
name: retinitis pigmentosa 18
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010392"}
synonym: "PRPF3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 18" EXACT [MONDO:Lexical, OMIM:601414]
synonym: "retinitis pigmentosa 18; RP18" RELATED [OMIM:601414]
synonym: "retinitis pigmentosa caused by mutation in PRPF3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 18" EXACT [DOID:0110356, MONDORULE:2, OMIM:601414]
synonym: "RP 18" RELATED [GARD:0010392]
synonym: "RP18" EXACT [DOID:0110356, MONDO:Lexical, OMIM:601414]
xref: DOID:0110356 {source="MONDO:equivalentTo"}
xref: GARD:0010392 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110356"}
xref: MESH:C563320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601414 {source="MONDO:equivalentTo", source="DOID:0110356"}
xref: UMLS:C1832378 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601414"}
is_a: MONDO:0019200 {source="DC-OMIM:601414", source="DOID:0110356", source="MESH:C563320", source="MONDO:Redundant", source="OMIM:601414"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110356
property_value: exactMatch http://identifiers.org/mesh/C563320
property_value: exactMatch http://identifiers.org/omim/601414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832378
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18 xsd:anyURI {source="GARD:0010392"}

[Term]
id: MONDO:0011076
name: myofibrillar myopathy 1
def: "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." [Orphanet:98909]
subset: ordo_disease {source="Orphanet:98909"}
synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 7, formerly" RELATED [OMIM:601419]
synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" RELATED [OMIM:601419]
synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly" RELATED [OMIM:601419]
synonym: "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" RELATED [OMIM:601419]
synonym: "CMD1F and LGMD1D" RELATED DEPRECATED [OMIM:601419]
synonym: "CMD1F and LGMD1D, formerly" RELATED [OMIM:601419]
synonym: "DES myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "desmin-related myofibrillar myopathy" EXACT [Orphanet:98909]
synonym: "desmin-related myopathy" RELATED [OMIM:601419]
synonym: "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419]
synonym: "desminopathy" EXACT [DOID:0080092]
synonym: "desminopathy, primary" RELATED [OMIM:601419]
synonym: "IBM1" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Hereditary_inclusion_body_myopathy]
synonym: "inclusion body myopathy 1, autosomal dominant" RELATED [OMIM:601419]
synonym: "inclusion body myopathy 1, autosomal dominant, formerly" RELATED [OMIM:601419]
synonym: "MFM1" RELATED [MONDO:Lexical, OMIM:601419]
synonym: "myofibrillar myopathy (disease) caused by mutation in DES" EXACT []
synonym: "myofibrillar myopathy type 1" EXACT [DOID:0080092, MONDORULE:1]
synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419]
synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical, OMIM:601419]
synonym: "myopathy, myofibrillar, 1; MFM1" RELATED [OMIM:601419]
synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419]
synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419]
xref: DOID:0080092 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="ORDO:98909/attributed", source="ORDO:98909/ntbt", source="Orphanet:98909"}
xref: OMIM:601419 {source="MONDO:equivalentTo", source="DOID:0080092", source="ORDO:98909/e", source="Orphanet:98909"}
xref: Orphanet:98909 {source="MONDO:equivalentTo", source="OMIM:601419"}
xref: UMLS:C1832370 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601419", source="Orphanet:98909", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016108 {source="Orphanet:98909"} ! autosomal dominant distal myopathy
is_a: MONDO:0016112 {source="Orphanet:98909"} ! inclusion myopathy
is_a: MONDO:0016187 {source="Orphanet:98909"} ! qualitative or quantitative defects of desmin
is_a: MONDO:0016334 {source="Orphanet:98909"} ! neuromuscular disease with dilated cardiomyopathy
is_a: MONDO:0016340 {source="Orphanet:98909"} ! familial restrictive cardiomyopathy
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:601419", source="Orphanet:98909"} ! myofibrillar myopathy (disease)
property_value: exactMatch DOID:0080092
property_value: exactMatch http://identifiers.org/omim/601419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832370
property_value: exactMatch Orphanet:98909

[Term]
id: MONDO:0011077
name: microcephaly, corpus callosum dysgenesis, and cleft lip/palate
subset: gard_rare {source="GARD:0003614"}
synonym: "corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation" RELATED [GARD:0003614]
synonym: "microcephaly, corpus callosum dysgenesis and cleft lip-palate" RELATED [GARD:0003614]
synonym: "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" EXACT [OMIM:601420]
synonym: "microcephaly, facial clefting, and preaxial polydactyly" RELATED [GARD:0003614]
xref: GARD:0003614 {source="MONDO:equivalentTo"}
xref: MESH:C537547 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601420 {source="MONDO:equivalentTo"}
xref: UMLS:C1832369 {source="OMIM:601420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537547
property_value: exactMatch http://identifiers.org/omim/601420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832369
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate xsd:anyURI {source="GARD:0003614"}

[Term]
id: MONDO:0011078
name: anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
synonym: "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" EXACT [OMIM:601427]
synonym: "Jung Wolff back Stahl syndrome" RELATED [GARD:0003062]
xref: GARD:0003062 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537694 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601427 {source="MONDO:equivalentTo"}
xref: UMLS:C1832362 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601427"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch Orphanet:2321
property_value: exactMatch http://identifiers.org/mesh/C537694
property_value: exactMatch http://identifiers.org/omim/601427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832362

[Term]
id: MONDO:0011079
name: rhizomelic dysplasia, Patterson-Lowry type
def: "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." [Orphanet:2831]
subset: gard_rare {source="GARD:0004703"}
subset: ordo_malformation_syndrome {source="Orphanet:2831"}
synonym: "Patterson Lowry syndrome" RELATED [GARD:0004703]
synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703]
synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703]
synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438]
xref: GARD:0004703 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:2831/attributed", source="ORDO:2831/ntbt", source="Orphanet:2831"}
xref: MESH:C537609 {source="ORDO:2831/e", source="MONDO:equivalentTo", source="Orphanet:2831", source="MONDO:ontobio"}
xref: OMIM:601438 {source="ORDO:2831/e", source="MONDO:equivalentTo", source="Orphanet:2831"}
xref: Orphanet:2831 {source="MONDO:equivalentTo", source="OMIM:601438"}
xref: SCTID:715505002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C1832359 {source="ORDO:2831/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2831", source="OMIM:601438"}
is_a: MONDO:0019697 {source="Orphanet:2831"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537609
property_value: exactMatch http://identifiers.org/omim/601438
property_value: exactMatch http://identifiers.org/snomedct/715505002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832359
property_value: exactMatch Orphanet:2831
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type xsd:anyURI {source="GARD:0004703"}

[Term]
id: MONDO:0011080
name: progressive deafness with stapes fixation
def: "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." [Orphanet:3235]
subset: gard_rare {source="GARD:0005170"}
subset: ordo_malformation_syndrome {source="Orphanet:3235"}
synonym: "deafness, progressive, with stapes fixation" RELATED [OMIM:601449]
synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235]
synonym: "Thies Reis syndrome" RELATED [GARD:0005170]
synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235]
xref: GARD:0005170 {source="MONDO:equivalentTo"}
xref: ICD10:H74.3 {source="Orphanet:3235", source="ORDO:3235/attributed", source="ORDO:3235/ntbt"}
xref: MESH:C563316 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601449 {source="Orphanet:3235", source="ORDO:3235/e", source="MONDO:equivalentTo"}
xref: Orphanet:3235 {source="MONDO:equivalentTo", source="OMIM:601449"}
xref: SCTID:715529009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1832354 {source="Orphanet:3235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601449"}
is_a: MONDO:0019589 {source="Orphanet:3235"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C563316
property_value: exactMatch http://identifiers.org/omim/601449
property_value: exactMatch http://identifiers.org/snomedct/715529009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844678
property_value: exactMatch Orphanet:3235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation xsd:anyURI {source="GARD:0005170"}

[Term]
id: MONDO:0011081
name: dislocation of the hip-dysmorphism syndrome
def: "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." [Orphanet:2412]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2412"}
synonym: "Collins Pope syndrome" RELATED [GARD:0001428]
synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412]
synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450]
synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428]
synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450]
xref: GARD:0001428 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:2412", source="ORDO:2412/attributed", source="ORDO:2412/ntbt"}
xref: MESH:C563315 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601450 {source="Orphanet:2412", source="ORDO:2412/e", source="MONDO:equivalentTo"}
xref: Orphanet:2412 {source="MONDO:equivalentTo", source="GARD:0001428", source="OMIM:601450"}
xref: SCTID:763755009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601450"}
is_a: MONDO:0043008 {source="Orphanet:2412"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563315
property_value: exactMatch http://identifiers.org/omim/601450
property_value: exactMatch http://identifiers.org/snomedct/763755009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832353
property_value: exactMatch Orphanet:2412
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome xsd:anyURI {source="GARD:0001428"}

[Term]
id: MONDO:0011082
name: oculoauriculofrontonasal syndrome
subset: gard_rare {source="GARD:0004031"}
subset: ordo_malformation_syndrome {source="Orphanet:398156"}
synonym: "OAFNS" EXACT [MONDO:Lexical, OMIM:601452, Orphanet:398156]
synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452]
synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452]
synonym: "OCULOAURICULOFRONTONASAL syndrome; OAFNS" RELATED [OMIM:601452]
xref: GARD:0004031 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:398156", source="ORDO:398156/attributed", source="ORDO:398156/ntbt"}
xref: MESH:C537865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601452 {source="ORDO:398156/e", source="Orphanet:398156", source="MONDO:equivalentTo"}
xref: Orphanet:398156 {source="OMIM:601452", source="MONDO:equivalentTo"}
xref: UMLS:C1832352 {source="OMIM:601452", source="Orphanet:398156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016643 {source="Orphanet:398156"} ! frontonasal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537865
property_value: exactMatch http://identifiers.org/omim/601452
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832352
property_value: exactMatch Orphanet:398156
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome xsd:anyURI {source="GARD:0004031"}

[Term]
id: MONDO:0011083
name: trichodental syndrome
def: "Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." [Orphanet:3351]
subset: gard_rare {source="GARD:0000265"}
subset: ordo_malformation_syndrome {source="Orphanet:3351"}
synonym: "kersey syndrome" EXACT [Orphanet:3351]
synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265]
synonym: "Tricho-dental syndrome" RELATED [GARD:0000265]
synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453]
xref: GARD:0000265 {source="MONDO:equivalentTo"}
xref: MESH:C536551 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3351/e", source="Orphanet:3351"}
xref: OMIM:601453 {source="MONDO:equivalentTo", source="ORDO:3351/e", source="Orphanet:3351"}
xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"}
xref: SCTID:277810000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406724 {source="OMIM:601453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3351/e", source="Orphanet:3351"}
is_a: MONDO:0015336 {source="Orphanet:3351"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019282 {source="Orphanet:3351"} ! syndromic hair shaft abnormality
is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536551
property_value: exactMatch http://identifiers.org/omim/601453
property_value: exactMatch http://identifiers.org/snomedct/277810000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406724
property_value: exactMatch Orphanet:3351
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome xsd:anyURI {source="GARD:0000265"}

[Term]
id: MONDO:0011084
name: PSORS3
synonym: "psoriasis 3, susceptibility to" RELATED [MONDO:Lexical, OMIM:601454]
synonym: "psoriasis 3, susceptibility to; PSORS3" RELATED [OMIM:601454]
synonym: "PSORS3" EXACT [MONDO:Lexical, OMIM:601454]
xref: OMIM:601454 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:601454", source="OMIM:601454"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832345
property_value: exactMatch http://identifiers.org/omim/601454

[Term]
id: MONDO:0011085
name: Charcot-Marie-Tooth disease type 4D
def: "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." [Orphanet:99950]
subset: gard_rare {source="GARD:0003973"}
subset: ordo_disease {source="Orphanet:99950"}
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [OMIM:601455]
synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical, OMIM:601455]
synonym: "Charcot-Marie-Tooth disease, type 4D; CMT4D" RELATED [OMIM:601455]
synonym: "Charcot-Marie-Tooth neuropathy type 4D" EXACT [DOID:0110186]
synonym: "Charcot-Marie-Tooth neuropathy, type 4D" RELATED [OMIM:601455]
synonym: "CMT4D" EXACT [DOID:0110186, MONDO:Lexical, OMIM:601455, Orphanet:99950]
synonym: "hereditary motor ABD sensory neuropathy Lom type" EXACT [DOID:0110186]
synonym: "hereditary motor and sensory neuropathy, Lom type" EXACT [Orphanet:99950]
synonym: "HMSN Lom type" EXACT [DOID:0110186]
synonym: "HMSN, Lom type" EXACT [Orphanet:99950]
synonym: "HMSN-Lom" EXACT [DOID:0110186, Orphanet:99950]
synonym: "HMSN4D" EXACT [DOID:0110186]
synonym: "HMSN4D" RELATED [OMIM:601455]
synonym: "HMSNL" EXACT [DOID:0110186]
synonym: "NDRG1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455]
synonym: "NMSL" RELATED [GARD:0003973]
xref: DOID:0110186 {source="MONDO:equivalentTo"}
xref: GARD:0003973 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99950", source="DOID:0110186", source="ORDO:99950/attributed", source="ORDO:99950/ntbt"}
xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99950/e"}
xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="DOID:0110186", source="ORDO:99950/e"}
xref: Orphanet:99950 {source="OMIM:601455", source="MONDO:equivalentTo", source="DOID:0110186"}
xref: SCTID:715798007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832334 {source="Orphanet:99950", source="NCBI:mim2gene_medline", source="OMIM:601455", source="MONDO:equivalentTo", source="ORDO:99950/e"}
is_a: MONDO:0018995 {source="DOID:0110186", source="MONDO:Redundant", source="Orphanet:99950", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110186
property_value: exactMatch http://identifiers.org/mesh/C535716
property_value: exactMatch http://identifiers.org/omim/601455
property_value: exactMatch http://identifiers.org/snomedct/715798007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832334
property_value: exactMatch Orphanet:99950
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d xsd:anyURI {source="GARD:0003973"}

[Term]
id: MONDO:0011086
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
def: "Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." [Orphanet:331206]
subset: ordo_disease {source="Orphanet:331206"}
synonym: "SCID due to complete RAG1-2 deficiency" EXACT [DOID:0090013]
synonym: "SCID due to complete RAG1/2 deficiency" EXACT [Orphanet:331206]
synonym: "SCID, AR, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339]
synonym: "SCID, T cell-negative, B cell-negative, NK cell-positive" RELATED [OMIM:601457]
synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [DOID:0090013]
synonym: "severe combined immunodeficiency due to complete RAG1/2 deficiency" RELATED [Orphanet:331206]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" EXACT [OMIM:601457]
synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339]
xref: DOID:0090013 {source="MONDO:equivalentTo"}
xref: GARD:0010339 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D81.1 {source="ORDO:331206/attributed", source="ORDO:331206/ntbt", source="DOID:0090013", source="Orphanet:331206"}
xref: MESH:C563311 {source="MONDO:equivalentTo"}
xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="ORDO:331206/e"}
xref: Orphanet:331206 {source="MONDO:equivalentTo", source="DOID:0090013", source="OMIM:601457"}
xref: UMLS:C1832322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601457", source="Orphanet:331206", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017855 {source="Orphanet:331206"} ! T-B- severe combined immunodeficiency
property_value: exactMatch DOID:0090013
property_value: exactMatch http://identifiers.org/mesh/C563311
property_value: exactMatch http://identifiers.org/omim/601457
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832322
property_value: exactMatch Orphanet:331206

[Term]
id: MONDO:0011087
name: inflammatory bowel disease 2
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1." [DOID:0110900, PMID:8841195]
synonym: "IBD2" EXACT [DOID:0110900, MONDO:Lexical, OMIM:601458]
synonym: "inflammatory bowel disease 2" EXACT [MONDO:Lexical, OMIM:601458]
synonym: "inflammatory bowel disease 2; IBD2" RELATED [OMIM:601458]
synonym: "inflammatory bowel disease type 2" EXACT [DOID:0110900, MONDORULE:1]
xref: DOID:0110900 {source="MONDO:equivalentTo"}
xref: MESH:C563310 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601458 {source="DOID:0110900", source="MONDO:equivalentTo"}
xref: UMLS:C1832321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601458"}
is_a: MONDO:0005265 {source="DC-OMIM:601458", source="DOID:0110900", source="MESH:C563310", source="OMIM:601458"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110900
property_value: exactMatch http://identifiers.org/mesh/C563310
property_value: exactMatch http://identifiers.org/omim/601458
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832321

[Term]
id: MONDO:0011088
name: congenital myasthenic syndrome 1A
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHRNA1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS IIa" EXACT [DOID:0110663]
synonym: "Cms IIa" RELATED [OMIM:601462]
synonym: "Cms IIa, formerly" RELATED [OMIM:601462]
synonym: "CMS1A" EXACT [DOID:0110663]
synonym: "CMS1A" RELATED [MONDO:Lexical, OMIM:601462]
synonym: "CMS2A" RELATED EXCLUDE [DOID:0110663]
synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [DOID:0110663]
synonym: "congenital myasthenic syndrome caused by mutation in CHRNA1" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 1A" EXACT [DOID:0110663, MONDORULE:4]
synonym: "congenital myasthenic syndrome type IIa" EXACT [DOID:0110663]
synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexical, OMIM:601462]
synonym: "myasthenic syndrome, congenital, 1A, slow-channel; CMS1A" RELATED [OMIM:601462]
synonym: "myasthenic syndrome, congenital, type IIa" RELATED [OMIM:601462]
synonym: "myasthenic syndrome, congenital, type IIa, formerly" RELATED [OMIM:601462]
xref: DOID:0110663 {source="MONDO:equivalentTo"}
xref: OMIM:601462 {source="MONDO:equivalentTo", source="DOID:0110663"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751885
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931107
property_value: exactMatch DOID:0110663
property_value: exactMatch http://identifiers.org/omim/601462

[Term]
id: MONDO:0011089
name: patent ductus venosus
subset: gard_rare {source="GARD:0010483"}
synonym: "patent ductus venosus" EXACT [MONDO:Lexical, OMIM:601466]
synonym: "patent ductus venosus; PDV" RELATED [OMIM:601466]
synonym: "PDV" RELATED [MONDO:Lexical, OMIM:601466]
synonym: "portosystemic Venous shunt, congenital" RELATED [OMIM:601466]
synonym: "PSVS" RELATED [GARD:0010483]
xref: GARD:0010483 {source="MONDO:equivalentTo"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562830 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601466 {source="MONDO:equivalentTo"}
xref: SCTID:253330006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344688
property_value: exactMatch http://identifiers.org/mesh/C562830
property_value: exactMatch http://identifiers.org/omim/601466
property_value: exactMatch http://identifiers.org/snomedct/253330006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus xsd:anyURI {source="GARD:0010483"}

[Term]
id: MONDO:0011090
name: isolated hereditary congenital facial paralysis
def: "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." [Orphanet:306527]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:306527"}
synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471]
synonym: "facial paresis hereditary congenital" RELATED [GARD:0008583]
synonym: "facial paresis, hereditary congenital" RELATED [OMIMPS:601471]
synonym: "HCFP" BROAD []
synonym: "hereditary congenital facial paresis" RELATED [GARD:0008583]
synonym: "MBS2 (formerly)" RELATED [GARD:0008583]
synonym: "Mobius syndrome 2 (formerly)" RELATED [GARD:0008583]
synonym: "Moebius syndrome 2 (formerly)" RELATED [GARD:0008583]
xref: GARD:0008583 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:306527", source="ORDO:306527/attributed", source="ORDO:306527/ntbt"}
xref: MESH:C563309 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:601471 {source="MONDO:equivalentTo"}
xref: Orphanet:306527 {source="MONDO:equivalentTo", source="OMIM:601471"}
xref: SCTID:733091002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518577 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015499 {source="Orphanet:306527"} ! paralytic facial malformation
is_a: MONDO:0020132 {source="Orphanet:306527"} ! cranial nerve and nuclear aplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C563309
property_value: exactMatch http://identifiers.org/snomedct/733091002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518577
property_value: exactMatch Orphanet:306527
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis xsd:anyURI {source="GARD:0008583"}

[Term]
id: MONDO:0011091
name: Charcot-Marie-Tooth disease type 2D
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." [Orphanet:99938]
subset: gard_rare {source="GARD:0001251"}
subset: ordo_disease {source="Orphanet:99938"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164]
synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251]
synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [DOID:0110164]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical, OMIM:601472]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2D; CMT2D" RELATED [OMIM:601472]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [OMIM:601472]
synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [DOID:0110164]
synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [OMIM:601472]
synonym: "CMT 2D" RELATED [GARD:0001251]
synonym: "CMT2D" EXACT [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938]
synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110164 {source="MONDO:equivalentTo"}
xref: GARD:0001251 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99938/attributed", source="ORDO:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"}
xref: MESH:C537993 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122659 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:601472 {source="MONDO:equivalentTo", source="ORDO:99938/e", source="DOID:0110164", source="Orphanet:99938"}
xref: Orphanet:99938 {source="MONDO:equivalentTo", source="DOID:0110164", source="OMIM:601472"}
xref: SCTID:717011006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1832274 {source="NCIT:C122659", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99938", source="OMIM:601472"}
xref: UMLS:C4274109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110164", source="MONDO:Redundant", source="Orphanet:99938"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110164
property_value: exactMatch http://identifiers.org/mesh/C537993
property_value: exactMatch http://identifiers.org/omim/601472
property_value: exactMatch http://identifiers.org/snomedct/717011006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274109
property_value: exactMatch NCIT:C122659
property_value: exactMatch Orphanet:99938
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d xsd:anyURI {source="GARD:0001251"}

[Term]
id: MONDO:0011092
name: ribbing disease
def: "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate . Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." [https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease]
subset: gard_rare {source="GARD:0008494"}
synonym: "diaphyseal sclerosis, multiple" RELATED [OMIM:601477]
synonym: "hereditary multiple diaphyseal sclerosis" RELATED [GARD:0008494]
synonym: "multiple diaphyseal sclerosis" RELATED [GARD:0008494]
synonym: "ribbing disease" EXACT [OMIM:601477]
xref: GARD:0008494 {source="MONDO:equivalentTo"}
xref: MESH:C537613 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601477 {source="MONDO:equivalentTo"}
xref: UMLS:C1832273 {source="NCBI:mim2gene_medline", source="OMIM:601477", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C537613/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537613
property_value: exactMatch http://identifiers.org/omim/601477
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832273
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease xsd:anyURI {source="GARD:0008494"}

[Term]
id: MONDO:0011093
name: mucopolysaccharidosis type 9
def: "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." [NCIT:C129073]
subset: ordo_disease {source="Orphanet:67041"}
synonym: "hyaluronidase deficiency" RELATED [OMIM:601492]
synonym: "MPS 9" RELATED [OMIM:601492]
synonym: "MPS9" EXACT [MONDO:Lexical, OMIM:601492, Orphanet:67041]
synonym: "MPSIX" EXACT [Orphanet:67041]
synonym: "mucopolysaccharidosis IX" RELATED [DOID:0050809]
synonym: "mucopolysaccharidosis type 9" EXACT [Orphanet:67041]
synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orphanet:67041]
synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492]
synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492]
synonym: "mucopolysaccharidosis, type IX; MPS9" RELATED [OMIM:601492]
xref: DOID:0050809 {source="MONDO:equivalentTo"}
xref: ICD10:E76.2 {source="ORDO:67041/attributed", source="ORDO:67041/ntbt", source="Orphanet:67041"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563209 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129073 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:601492 {source="DOID:0050809", source="ORDO:67041/e", source="MONDO:equivalentTo", source="Orphanet:67041"}
xref: Orphanet:67041 {source="MONDO:equivalentTo", source="OMIM:601492"}
xref: SCTID:124473006 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C1291490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:67041", source="OMIM:601492", source="NCIT:C129073"}
is_a: MONDO:0019249 {source="DC-OMIM:601492", source="DOID:0050809", source="MESH:C563209", source="MONDO:Redundant", source="NCIT:C129073", source="OMIM:601492", source="Orphanet:67041"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:67041"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0050809
property_value: exactMatch http://identifiers.org/mesh/C563209
property_value: exactMatch http://identifiers.org/omim/601492
property_value: exactMatch http://identifiers.org/snomedct/124473006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291490
property_value: exactMatch NCIT:C129073
property_value: exactMatch Orphanet:67041

[Term]
id: MONDO:0011094
name: dilated cardiomyopathy 1C
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2." [DOID:0110423, PMID:14662268]
synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:601493]
synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction; CMD1C" RELATED [OMIM:601493]
synonym: "cardiomyopathy, familial hypertrophic, 24" RELATED [OMIM:601493]
synonym: "CMD1C" RELATED [MONDO:Lexical, OMIM:601493]
synonym: "CMDC1" EXACT [DOID:0110423]
synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [DOID:0110423]
synonym: "dilated cardiomyopathy type 1C" EXACT [DOID:0110423, MONDORULE:4]
synonym: "left ventricular noncompaction 3" RELATED [OMIM:601493]
xref: DOID:0110423 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110423"}
xref: MESH:C563307 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601493 {source="DOID:0110423", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:601493", source="MONDOLEX:0011094", source="OMIM:601493"} ! left ventricular noncompaction (disease)
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832244
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853863
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152137
property_value: exactMatch DOID:0110423
property_value: exactMatch http://identifiers.org/mesh/C563307
property_value: exactMatch http://identifiers.org/omim/601493

[Term]
id: MONDO:0011095
name: dilated cardiomyopathy 1D
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1D" RELATED [MONDO:Lexical, OMIM:601494]
synonym: "cardiomyopathy, dilated, 1D; CMD1D" RELATED [OMIM:601494]
synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4, OMIM:601494]
synonym: "CMD1D" EXACT [DOID:0110426, MONDO:Lexical, OMIM:601494]
synonym: "dilated cardiomyopathy type 1D" EXACT [DOID:0110426, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 6" RELATED [OMIM:601494]
synonym: "TNNT2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110426 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110426"}
xref: MESH:C563306 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601494 {source="DOID:0110426", source="MONDO:equivalentTo"}
xref: UMLS:C1832243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601494"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:601494", source="MONDOLEX:0011095", source="OMIM:601494"} ! left ventricular noncompaction (disease)
property_value: exactMatch DOID:0110426
property_value: exactMatch http://identifiers.org/mesh/C563306
property_value: exactMatch http://identifiers.org/omim/601494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832243

[Term]
id: MONDO:0011096
name: autosomal agammaglobulinemia
def: "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." [Orphanet:33110]
subset: ordo_clinical_subtype {source="Orphanet:33110"}
synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495]
synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110]
synonym: "AGM" EXACT [MONDO:cjm]
xref: GARD:0009640 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D80.0 {source="ORDO:33110/inclusion", source="ORDO:33110/ntbt", source="Orphanet:33110"}
xref: MESH:C538056 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:33110 {source="OMIM:601495", source="MONDO:equivalentTo"}
xref: UMLS:C1832241 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:33110"}
is_a: MONDO:0016462 {source="Orphanet:33110"} ! isolated agammaglobulinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152144
property_value: exactMatch http://identifiers.org/mesh/C538056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832241
property_value: exactMatch Orphanet:33110

[Term]
id: MONDO:0011097
name: Axenfeld-Rieger syndrome type 2
def: "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14." [DOID:0110121, PMID:8751862]
synonym: "Axenfeld-Rieger syndrome, type 2" RELATED [MONDO:Lexical, OMIM:601499]
synonym: "Axenfeld-Rieger syndrome, type 2; RIEG2" RELATED [OMIM:601499]
synonym: "RIEG2" EXACT [DOID:0110121, MONDO:Lexical, OMIM:601499]
synonym: "Rieger syndrome type 2" EXACT [DOID:0110121]
synonym: "Rieger syndrome, type 2" RELATED [OMIM:601499]
xref: DOID:0110121 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="DOID:0110121"}
xref: MESH:C535680 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601499 {source="MONDO:equivalentTo", source="DOID:0110121"}
xref: UMLS:C1832229 {source="NCBI:mim2gene_medline", source="OMIM:601499", source="MONDO:equivalentTo"}
is_a: MONDO:0019187 {source="DC-OMIM:601499", source="DOID:0110121", source="MONDOLEX:0011097", source="OMIM:601499"} ! Axenfeld-Rieger syndrome
property_value: exactMatch DOID:0110121
property_value: exactMatch http://identifiers.org/mesh/C535680
property_value: exactMatch http://identifiers.org/omim/601499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832229

[Term]
id: MONDO:0011098
name: prostate cancer, hereditary, 1
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in RNASEL" EXACT [MONDO:design_pattern]
synonym: "HPC1" RELATED [MONDO:Lexical, OMIM:601518]
synonym: "Prca1" RELATED [OMIM:601518]
synonym: "prostate cancer, hereditary, 1" EXACT [MONDO:Lexical, OMIM:601518]
synonym: "prostate cancer, hereditary, 1; HPC1" RELATED [OMIM:601518]
synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1, OMIM:601518]
synonym: "RNASEL familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:601518 {source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDO:Redundant", source="MONDOLEX:0011098"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/omim/601518

[Term]
id: MONDO:0011099
name: human HOXA1 syndromes
def: "Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." [Orphanet:69739]
subset: ordo_disease {source="Orphanet:69739"}
synonym: "ABDS" RELATED [MONDO:Lexical, OMIM:601536]
synonym: "ABSD" EXACT [Orphanet:69739]
synonym: "Athabascan brainstem dysgenesis syndrome" EXACT [Orphanet:69739]
synonym: "Athabaskan brainstem dysgenesis" RELATED [GARD:0008333]
synonym: "Athabaskan brainstem dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:601536]
synonym: "Athabaskan brainstem dysgenesis syndrome; ABDS" RELATED [OMIM:601536]
synonym: "Bosley Salih Alorainy syndrome" RELATED [GARD:0008333]
synonym: "Bosley-Salih-Alorainy syndrome" RELATED [OMIM:601536]
synonym: "BSAS" RELATED [GARD:0008333]
synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333]
synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739]
xref: DOID:0050682 {source="MONDO:equivalentTo"}
xref: GARD:0008333 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:601536 {source="DOID:0050682", source="ORDO:69739/e", source="MONDO:equivalentTo", source="Orphanet:69739"}
xref: Orphanet:69739 {source="MONDO:equivalentTo", source="OMIM:601536"}
xref: SCTID:720518006 {source="MONDO:equivalentTo"}
xref: UMLS:C1832215 {source="MEDGEN:kboom-pr97-c98", source="ORDO:69739/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69739", source="OMIM:601536"}
is_a: MONDO:0006025 {source="DOID:0050682", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0019589 {source="Orphanet:69739"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832216
property_value: exactMatch DOID:0050682
property_value: exactMatch http://identifiers.org/mesh/C535397
property_value: exactMatch http://identifiers.org/omim/601536
property_value: exactMatch http://identifiers.org/snomedct/720518006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832215
property_value: exactMatch Orphanet:69739
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1377 xsd:string

[Term]
id: MONDO:0011100
name: microcephaly, retinitis pigmentosa, and sutural cataract
synonym: "microcephaly, retinitis pigmentosa, and sutural cataract" EXACT [OMIM:601537]
xref: MESH:C563296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601537 {source="MONDO:equivalentTo"}
xref: UMLS:C1832214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601537"}
is_a: MONDO:0003847 {source="MESH:C563296/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563296
property_value: exactMatch http://identifiers.org/omim/601537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832214

[Term]
id: MONDO:0011101
name: peroxisome biogenesis disorder 1B
synonym: "adrenoleukodystrophy, autosomal neonatal" RELATED [OMIM:601539]
synonym: "infantile phytanic acid storage disease" RELATED [OMIM:601539]
synonym: "PBD1B" RELATED [MONDO:Lexical, OMIM:601539]
synonym: "peroxisome biogenesis disorder (NALD/Ird)" RELATED [OMIM:601539]
synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" RELATED [OMIM:601539]
synonym: "peroxisome biogenesis disorder 1B" EXACT [MONDO:Lexical, OMIM:601539]
synonym: "peroxisome biogenesis disorder 1B; PBD1B" RELATED [OMIM:601539]
synonym: "peroxisome biogenesis disorder type 1B" EXACT [MONDORULE:4, OMIM:601539]
synonym: "Refsum disease, infantile" RELATED [OMIM:601539]
xref: OMIM:601539 {source="MONDO:equivalentTo"}
xref: UMLS:CN168921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:601539", source="MONDOLEX:0011101", source="ORDO-Gene"} ! Zellweger syndrome
property_value: exactMatch http://identifiers.org/omim/601539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN168921

[Term]
id: MONDO:0011102
name: autosomal dominant nonsyndromic deafness 12
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 12" EXACT [DOID:0110544]
synonym: "autosomal dominant deafness 8" EXACT [DOID:0110544]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TECTA" EXACT []
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in tecta" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 12" EXACT [DOID:0110544, MONDORULE:2]
synonym: "deafness, autosomal dominant 12" RELATED [MONDO:Lexical, OMIM:601543]
synonym: "deafness, autosomal dominant 12; DFNA12" RELATED [OMIM:601543]
synonym: "deafness, autosomal dominant 8" RELATED [OMIM:601543]
synonym: "deafness, autosomal dominant type 12" EXACT [MONDORULE:2, OMIM:601543]
synonym: "DFNA12" EXACT [DOID:0110544, MONDO:Lexical, OMIM:601543]
synonym: "DFNA8" EXACT [DOID:0110544]
synonym: "TECTA autosomal dominant nonsyndromic deafness" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "tecta autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern]
xref: DOID:0110544 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110544"}
xref: MESH:C563295 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601543 {source="DOID:0110544", source="MONDO:equivalentTo"}
xref: UMLS:C1832187 {source="NCBI:mim2gene_medline", source="OMIM:601543", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:601543", source="DOID:0110544", source="MONDO:Redundant", source="OMIM:601543"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110544
property_value: exactMatch http://identifiers.org/mesh/C563295
property_value: exactMatch http://identifiers.org/omim/601543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832187

[Term]
id: MONDO:0011103
name: autosomal dominant nonsyndromic deafness 3A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: consider adding grouping for 3A/3B
synonym: "autosomal dominant deafness 3A" EXACT [DOID:0110564]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 3A" EXACT [DOID:0110564, MONDORULE:4]
synonym: "deafness, autosomal dominant 3A" RELATED [MONDO:Lexical, OMIM:601544]
synonym: "deafness, autosomal dominant 3A; DFNA3A" RELATED [OMIM:601544]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 3" RELATED [GARD:0009933]
synonym: "deafness, autosomal dominant type 3A" EXACT [MONDORULE:4, OMIM:601544]
synonym: "DFNA3" RELATED [GARD:0009933]
synonym: "DFNA3A" EXACT [DOID:0110564, MONDO:Lexical, OMIM:601544]
synonym: "GJB2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic dominant deafness 1" RELATED [GARD:0009933]
synonym: "NSRD1" RELATED [GARD:0009933]
xref: DOID:0110564 {source="MONDO:equivalentTo"}
xref: GARD:0009933 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110564"}
xref: MESH:C567277 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601544 {source="MONDO:equivalentTo", source="DOID:0110564"}
xref: UMLS:C2675750 {source="OMIM:601544", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:601544", source="DOID:0110564", source="MONDO:Redundant", source="OMIM:601544"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110564
property_value: exactMatch http://identifiers.org/mesh/C567277
property_value: exactMatch http://identifiers.org/omim/601544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675750

[Term]
id: MONDO:0011104
name: cataract 3 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract (disease) caused by mutation in CRYBB2" EXACT []
synonym: "cataract 3 multiple types with or without microcornea" EXACT [DOID:0110269]
synonym: "cataract 3, multiple types" RELATED [MONDO:Lexical, OMIM:601547]
synonym: "cataract 3, multiple types, with or without microcornea" RELATED [OMIM:601547]
synonym: "cataract 3, multiple types; CTRCT3" RELATED [OMIM:601547]
synonym: "cataract, congenital, cerulean type, 2" RELATED [OMIM:601547]
synonym: "CCA2" NARROW [DOID:0110269]
synonym: "congenital cerulean type cataract 2" NARROW [DOID:0110269]
synonym: "CRYBB2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT3" EXACT [DOID:0110269, MONDO:Lexical, OMIM:601547]
xref: DOID:0110269 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110269"}
xref: MESH:C563294 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601547 {source="DOID:0110269", source="MONDO:equivalentTo"}
xref: UMLS:C1832175 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601547"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110269", source="MESH:C563294", source="MONDO:Redundant", source="OMIM:601547"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome
property_value: exactMatch DOID:0110269
property_value: exactMatch http://identifiers.org/mesh/C563294
property_value: exactMatch http://identifiers.org/omim/601547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832175

[Term]
id: MONDO:0011105
name: alacrima, congenital, autosomal recessive
synonym: "alacrima, congenital, autosomal recessive" EXACT [OMIM:601549]
xref: OMIM:601549 {source="MONDO:equivalentTo"}
xref: UMLS:C4012597 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019627 {source="ORDO:91416/btnt"} ! isolated congenital alacrima
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344505
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863199
property_value: exactMatch http://identifiers.org/omim/601549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4012597

[Term]
id: MONDO:0011106
name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
def: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." [Orphanet:412022]
subset: ordo_malformation_syndrome {source="Orphanet:412022"}
synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552]
synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552]
synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB" RELATED [OMIM:601552]
synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" EXACT [Orphanet:412022]
synonym: "FDLAB" RELATED [MONDO:Lexical, OMIM:601552]
synonym: "FDLAB syndrome" EXACT [Orphanet:412022]
synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022]
xref: ICD10:Q87.0 {source="Orphanet:412022", source="ORDO:412022/attributed", source="ORDO:412022/ntbt"}
xref: MESH:C563293 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601552 {source="MONDO:equivalentTo", source="Orphanet:412022", source="ORDO:412022/e"}
xref: Orphanet:412022 {source="OMIM:601552", source="MONDO:equivalentTo"}
xref: UMLS:C1832167 {source="OMIM:601552", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:412022"}
is_a: MONDO:0015218 {source="Orphanet:412022"} ! syndromic developmental defect of the eye
is_a: MONDO:0020236 {source="Orphanet:412022"} ! lens position anomaly
property_value: exactMatch http://identifiers.org/mesh/C563293
property_value: exactMatch http://identifiers.org/omim/601552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832167
property_value: exactMatch Orphanet:412022

[Term]
id: MONDO:0011107
name: congenital hypotrichosis with juvenile macular dystrophy
def: "Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." [Orphanet:1573]
subset: ordo_malformation_syndrome {source="Orphanet:1573"}
synonym: "HJMD" EXACT [MONDO:Lexical, OMIM:601553, Orphanet:1573]
synonym: "Hjmd" EXACT [DOID:0110711]
synonym: "hypotrichosis with cone-rod dystrophy" EXACT [DOID:0110711]
synonym: "hypotrichosis with cone-rod dystrophy" RELATED [OMIM:601553]
synonym: "hypotrichosis with juvenile macular degeneration" RELATED [Orphanet:1573]
synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [Orphanet:1573]
synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [MONDO:Lexical, OMIM:601553]
synonym: "hypotrichosis, congenital, with juvenile macular dystrophy; HJMD" RELATED [OMIM:601553]
synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066]
synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066]
xref: DOID:0110711 {source="MONDO:equivalentTo"}
xref: GARD:0003066 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q84.0 {source="Orphanet:1573", source="ORDO:1573/attributed", source="ORDO:1573/ntbt"}
xref: MESH:C537698 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601553 {source="ORDO:1573/e", source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo"}
xref: Orphanet:1573 {source="OMIM:601553", source="MONDO:equivalentTo"}
xref: UMLS:C1832162 {source="ORDO:1573/e", source="OMIM:601553", source="Orphanet:1573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0003037 {source="DOID:0110711", source="MESH:C537698"} ! hypotrichosis
is_a: MONDO:0019287 {source="Orphanet:1573"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020244 {source="Orphanet:1573"} ! unclassified primitive or secondary maculopathy
property_value: exactMatch DOID:0110711
property_value: exactMatch http://identifiers.org/mesh/C537698
property_value: exactMatch http://identifiers.org/omim/601553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832162
property_value: exactMatch Orphanet:1573

[Term]
id: MONDO:0011108
name: Stüve-Wiedemann syndrome
def: "Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." [Orphanet:3206]
subset: ordo_malformation_syndrome {source="Orphanet:3206"}
synonym: "neonatal Schwartz-Jampel syndrome" EXACT [Orphanet:3206]
synonym: "neonatal Schwartz-Jampel syndrome type 2" RELATED [GARD:0005045]
synonym: "Schwartz-Jampel syndrome neonatal" RELATED [GARD:0005045]
synonym: "Schwartz-Jampel syndrome type 2" EXACT [Orphanet:3206]
synonym: "Schwartz-Jampel syndrome, neonatal" RELATED [OMIM:601559]
synonym: "Schwartz-Jampel syndrome, type 2" RELATED [OMIM:601559]
synonym: "SJS2" EXACT [Orphanet:3206]
synonym: "STUVE-Wiedemann syndrome" RELATED [OMIM:601559]
synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" RELATED [OMIM:601559]
synonym: "Stws" RELATED [OMIM:601559]
synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206]
synonym: "Stüve-Wiedemann syndrome" EXACT [Orphanet:3206]
synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206]
xref: GARD:0005045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.8 {source="ORDO:3206/attributed", source="ORDO:3206/ntbt", source="Orphanet:3206"}
xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e", source="MONDO:ontobio"}
xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e"}
xref: Orphanet:3206 {source="MONDO:equivalentTo", source="OMIM:601559"}
xref: SCTID:254097005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432240 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e", source="MEDGEN:kboom-pr95-c96"}
xref: UMLS:C0796176 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e", source="OMIM:601559", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019698 {source="Orphanet:3206"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537502
property_value: exactMatch http://identifiers.org/omim/601559
property_value: exactMatch http://identifiers.org/snomedct/254097005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796176
property_value: exactMatch Orphanet:3206

[Term]
id: MONDO:0011109
name: multiple epiphyseal dysplasia, Lowry type
def: "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." [Orphanet:166016]
subset: ordo_disease {source="Orphanet:166016"}
synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560]
synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560]
synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016]
xref: ICD10:Q78.8 {source="ORDO:166016/attributed", source="ORDO:166016/ntbt", source="Orphanet:166016"}
xref: MESH:C563291 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601560 {source="ORDO:166016/e", source="MONDO:equivalentTo", source="Orphanet:166016"}
xref: Orphanet:166016 {source="MONDO:equivalentTo", source="OMIM:601560"}
xref: SCTID:768935003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832112 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166016", source="MEDGEN:kboom-pr92-c96", source="OMIM:601560"}
is_a: MONDO:0016648 {source="Orphanet:166016"} ! multiple epiphyseal dysplasia (disease)
property_value: exactMatch http://identifiers.org/mesh/C563291
property_value: exactMatch http://identifiers.org/omim/601560
property_value: exactMatch http://identifiers.org/snomedct/768935003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832112
property_value: exactMatch Orphanet:166016

[Term]
id: MONDO:0011110
name: dyssegmental dysplasia-glaucoma syndrome
def: "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." [Orphanet:1804]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1804"}
synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025]
synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561]
xref: GARD:0002025 {source="MONDO:equivalentTo"}
xref: MESH:C563290 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601561 {source="MONDO:equivalentTo", source="Orphanet:1804", source="ORDO:1804/e"}
xref: Orphanet:1804 {source="OMIM:601561", source="GARD:0002025", source="MONDO:equivalentTo"}
xref: UMLS:C1832111 {source="OMIM:601561", source="GARD:0002025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1804"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0011110"} ! syndromic disease
is_a: MONDO:0020222 {source="Orphanet:1804"} ! rare disease with glaucoma as a major feature
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1804"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C563290
property_value: exactMatch http://identifiers.org/omim/601561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832111
property_value: exactMatch Orphanet:1804
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma xsd:anyURI {source="GARD:0002025"}

[Term]
id: MONDO:0011111
name: horns in sheep
synonym: "Ho" RELATED [OMIM:601563]
synonym: "horns in sheep" RELATED [OMIM:601563]
xref: OMIM:601563 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832110
property_value: exactMatch http://identifiers.org/omim/601563

[Term]
id: MONDO:0011112
name: Wilms tumor 5
def: "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "bilateral radial aplasia with Wilms tumor" RELATED [GARD:0005578]
synonym: "Wilms tumor 5" EXACT [MONDO:Lexical, OMIM:601583]
synonym: "Wilms tumor 5; WT5" RELATED [OMIM:601583]
synonym: "Wilms tumor and radial bilateral aplasia" RELATED [GARD:0005578]
synonym: "Wilms tumor type 5" EXACT [MONDORULE:1, OMIM:601583]
synonym: "Wilms tumor, susceptibility to" RELATED [OMIM:601583]
synonym: "WT5" RELATED [MONDO:Lexical, OMIM:601583]
xref: GARD:0005578 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536707 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601583 {source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:601583", source="MONDOLEX:0011112"} ! kidney Wilms tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832099
property_value: exactMatch http://identifiers.org/mesh/C536707
property_value: exactMatch http://identifiers.org/omim/601583

[Term]
id: MONDO:0011113
name: Charcot-Marie-Tooth disease type 4C
def: "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." [Orphanet:99949]
subset: gard_rare {source="GARD:0009201"}
subset: ordo_disease {source="Orphanet:99949"}
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183]
synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [OMIM:601596]
synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical, OMIM:601596]
synonym: "Charcot-Marie-Tooth disease, type 4C; CMT4C" RELATED [OMIM:601596]
synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [DOID:0110183]
synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [OMIM:601596]
synonym: "CMT 4C" RELATED [GARD:0009201]
synonym: "CMT4C" EXACT [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949]
synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110183 {source="MONDO:equivalentTo"}
xref: GARD:0009201 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99949/attributed", source="ORDO:99949/ntbt", source="DOID:0110183", source="Orphanet:99949"}
xref: MESH:C535423 {source="MONDO:equivalentTo", source="ORDO:99949/e", source="MONDO:ontobio", source="Orphanet:99949"}
xref: NCIT:C129864 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:601596 {source="DOID:0110183", source="MONDO:equivalentTo", source="ORDO:99949/e", source="Orphanet:99949"}
xref: Orphanet:99949 {source="OMIM:601596", source="DOID:0110183", source="MONDO:equivalentTo"}
xref: SCTID:715797002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1866636 {source="OMIM:601596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99949/e", source="NCIT:C129864", source="Orphanet:99949"}
is_a: MONDO:0018995 {source="DOID:0110183", source="MONDO:Redundant", source="Orphanet:99949", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110183
property_value: exactMatch http://identifiers.org/mesh/C535423
property_value: exactMatch http://identifiers.org/omim/601596
property_value: exactMatch http://identifiers.org/snomedct/715797002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866636
property_value: exactMatch NCIT:C129864
property_value: exactMatch Orphanet:99949
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c xsd:anyURI {source="GARD:0009201"}

[Term]
id: MONDO:0011114
name: familial multiple trichoepithelioma
subset: ordo_clinical_subtype {source="Orphanet:867"}
synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606]
synonym: "epithelioma adenoides cysticum" RELATED [GARD:0010867]
synonym: "epithelioma Adenoides Cysticum of Brooke" RELATED [OMIM:601606]
synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606]
synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867]
synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867]
synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867]
xref: GARD:0010867 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D23.3 {source="Orphanet:867", source="ORDO:867/attributed", source="ORDO:867/ntbt"}
xref: Orphanet:867 {source="MONDO:equivalentTo", source="OMIM:601606"}
xref: SCTID:403825008 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="MONDO:equivalentTo"}
xref: UMLS:C1275122 {source="ORDO:867/e", source="Orphanet:867", source="MONDO:equivalentTo"}
is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome
property_value: exactMatch http://identifiers.org/mesh/C536552
property_value: exactMatch http://identifiers.org/snomedct/403825008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275122
property_value: exactMatch Orphanet:867

[Term]
id: MONDO:0011115
name: spastic paraplegia and Evans syndrome
synonym: "spastic paraplegia and Evans syndrome" EXACT [OMIM:601608]
xref: MESH:C566652 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601608 {source="MONDO:equivalentTo"}
xref: UMLS:C1866619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601608"}
is_a: MONDO:0003847 {source="MESH:C566652/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566652
property_value: exactMatch http://identifiers.org/omim/601608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866619

[Term]
id: MONDO:0011116
name: lung agenesis-heart defect-thumb anomalies syndrome
def: "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." [Orphanet:1120]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1120"}
synonym: "LACHT" RELATED [MONDO:Lexical, OMIM:601612]
synonym: "lung agenesis heart defect thumb anomalies" RELATED [GARD:0003378, MESH:C535708]
synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome" RELATED [MONDO:Lexical, OMIM:601612]
synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome; LACHT" RELATED [OMIM:601612]
synonym: "Manouvrier syndrome" RELATED [GARD:0003378]
synonym: "Mardini-Nyhan association" RELATED [OMIM:601612]
synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120]
synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708]
xref: GARD:0003378 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1120", source="ORDO:1120/attributed", source="ORDO:1120/ntbt"}
xref: MESH:C535708 {source="MONDO:equivalentTo"}
xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="ORDO:1120/e"}
xref: Orphanet:1120 {source="GARD:0003378", source="MONDO:equivalentTo", source="OMIM:601612"}
xref: SCTID:721976003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0015222 {source="Orphanet:1120"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:1120"} ! respiratory malformation
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1120"} ! non-syndromic respiratory or mediastinal malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930988
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275954
property_value: exactMatch http://identifiers.org/mesh/C535708
property_value: exactMatch http://identifiers.org/omim/601612
property_value: exactMatch http://identifiers.org/snomedct/721976003
property_value: exactMatch Orphanet:1120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome xsd:anyURI {source="GARD:0003378"}

[Term]
id: MONDO:0011117
name: iris pigment epithelium anomalies
synonym: "cysts of iris pigment epithelium" RELATED [OMIM:601616]
synonym: "iris pigment epithelium anomalies" EXACT [OMIM:601616]
synonym: "ruffles and cysts of iris pigment epithelium" RELATED [OMIM:601616]
xref: MESH:C566651 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601616 {source="MONDO:equivalentTo"}
xref: UMLS:C1866608 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601616"}
is_a: MONDO:0003847 {source="MESH:C566651/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566651
property_value: exactMatch http://identifiers.org/omim/601616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866608

[Term]
id: MONDO:0011118
name: bilineal acute myeloid leukemia
def: "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" [NCIT:C6923]
subset: ordo_disease {source="Orphanet:98836"}
synonym: "acute bilineal leukemia" EXACT [NCIT:C6923]
synonym: "bilineal acute leukemia" RELATED [Orphanet:98836]
xref: ICD10:C95.0 {source="ORDO:98836/ntbt", source="Orphanet:98836"}
xref: NCIT:C6923 {source="MONDO:equivalentTo"}
xref: Orphanet:98836 {source="MONDO:equivalentTo"}
xref: UMLS:C0349680 {source="ORDO:98836/e", source="MONDO:equivalentTo", source="Orphanet:98836", source="NCIT:C6923"}
is_a: MONDO:0019460 {source="NCIT:C6923/inferred", source="NCIT:C82179", source="Orphanet:98836"} ! acute leukemia of ambiguous lineage
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349680
property_value: exactMatch NCIT:C6923
property_value: exactMatch Orphanet:98836

[Term]
id: MONDO:0011119
name: iridogoniodysgenesis
comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2
subset: ordo_group_of_disorders {source="Orphanet:98634"}
synonym: "IRID" EXACT [MONDO:cjm]
xref: DOID:0050786 {source="https://github.com/monarch-initiative/mondo/issues/203", source="MONDO:equivalentTo"}
xref: Orphanet:98634 {source="MONDO:equivalentTo"}
is_a: MONDO:0019503 {source="MONDO:cjm"} ! anterior segment dysgenesis
is_a: MONDO:0020217 {source="Orphanet:98634"} ! secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
property_value: exactMatch DOID:0050786
property_value: exactMatch Orphanet:98634

[Term]
id: MONDO:0011120
name: neural tube defects, folate-sensitive
synonym: "neural tube defects, folate-sensitive" EXACT [MONDO:Lexical, OMIM:601634]
synonym: "neural tube defects, folate-sensitive; NTDFS" RELATED [OMIM:601634]
synonym: "NTD, folate-sensitive" RELATED [OMIM:601634]
synonym: "NTDFS" RELATED [MONDO:Lexical, OMIM:601634]
synonym: "spina bifida, folate-sensitive" RELATED [OMIM:601634]
xref: OMIM:601634 {source="MONDO:equivalentTo"}
xref: UMLS:C1866558 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601634"}
is_a: MONDO:0019351 {source="ORDO:823/btnt"} ! isolated spina bifida
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866559
property_value: exactMatch http://identifiers.org/omim/601634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866558

[Term]
id: MONDO:0011121
name: paragangliomas 2
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010544"}
synonym: "glomus tumors, familial, 2" RELATED [OMIM:601650]
synonym: "paraganglioma caused by mutation in SDHAF2" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 2" EXACT [MONDO:Lexical, OMIM:601650]
synonym: "paragangliomas 2; PGL2" RELATED [OMIM:601650]
synonym: "paragangliomas type 2" EXACT [MONDORULE:1, OMIM:601650]
synonym: "PGL2" RELATED [MONDO:Lexical, OMIM:601650]
synonym: "SDHAF2 paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)" RELATED [GARD:0010544]
xref: GARD:0010544 {source="MONDO:equivalentTo"}
xref: MESH:C566646 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601650 {source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="DC-OMIM:601650", source="MESH:C566646", source="MONDO:Redundant", source="OMIM:601650"} ! paraganglioma
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002367 ! kidney cancer
is_a: MONDO:0002817 ! adrenal gland cancer
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021089 ! peripheral nervous system cancer
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866552
property_value: exactMatch http://identifiers.org/mesh/C566646
property_value: exactMatch http://identifiers.org/omim/601650
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 xsd:anyURI {source="GARD:0010544"}

[Term]
id: MONDO:0011122
name: obesity disorder
def: "A disorder involving an excessive amount of body fat." [https://www.ama-assn.org/sites/default/files/media-browser/public/about-ama/councils/Council%20Reports/council-on-science-public-health/a13csaph3.pdf, https://www.mayoclinic.org/diseases-conditions/obesity/symptoms-causes/syc-20375742]
comment: Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes
synonym: "leanness" RELATED EXCLUDE [OMIM:601665]
synonym: "obesity" EXACT [MONDO:ambiguous, OMIM:601665]
synonym: "obesity disease" EXACT []
xref: COHD:433736 {source="MONDO:equivalentTo"}
xref: DOID:9970 {source="MONDO:equivalentTo", source="EFO:0001073"}
xref: EFO:0001073 {source="MONDO:equivalentTo", source="DOID:9970"}
xref: HP:0001513 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E66.9 {source="DOID:9970"}
xref: ICD9:278.0 {source="MONDO:equivalentTo", source="i2s", source="EFO:0001073"}
xref: ICD9:278.00 {source="MONDO:equivalentTo", source="i2s", source="DOID:9970", source="EFO:0001073"}
xref: NCIT:C3283 {source="MONDO:kboom-pr-1.00/0.83/11.72", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9970", source="EFO:0001073"}
xref: NIFSTD:nlx_dys_20090302 {source="EFO:0001073"}
xref: SCTID:414916001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9970", source="EFO:0001073"}
xref: UMLS:C0028754 {source="MEDGEN:kboom-pr98-c99", source="OMIM:601665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:9970"}
is_a: MONDO:0003916 {source="DOID:9970"} ! overnutrition
property_value: closeMatch http://identifiers.org/mesh/D009765
property_value: closeMatch http://identifiers.org/snomedct/154776002
property_value: closeMatch http://identifiers.org/snomedct/190963004
property_value: closeMatch http://identifiers.org/snomedct/414915002
property_value: closeMatch http://identifiers.org/snomedct/5476005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039870
property_value: exactMatch DOID:9970
property_value: exactMatch http://identifiers.org/snomedct/414916001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028754
property_value: exactMatch NCIT:C3283

[Term]
id: MONDO:0011123
name: type 1 diabetes mellitus 15
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21." [DOID:0110753, PMID:8981961]
synonym: "diabetes mellitus, insulin-dependent, 15" RELATED [MONDO:Lexical, OMIM:601666]
synonym: "diabetes mellitus, insulin-dependent, 15; IDDM15" RELATED [OMIM:601666]
synonym: "IDDM15" EXACT [DOID:0110753, MONDO:Lexical, OMIM:601666]
synonym: "insulin-dependent diabetes mellitus 15" EXACT [DOID:0110753, OMIM:601666]
xref: DOID:0110753 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110753"}
xref: MESH:C566645 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601666 {source="DOID:0110753", source="MONDO:equivalentTo"}
xref: UMLS:C1866519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601666"}
is_a: MONDO:0005147 {source="DC-OMIM:601666", source="DOID:0110753", source="MESH:C566645", source="MONDOLEX:0011123"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110753
property_value: exactMatch http://identifiers.org/mesh/C566645
property_value: exactMatch http://identifiers.org/omim/601666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866519

[Term]
id: MONDO:0011124
name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
def: "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." [Orphanet:168451]
subset: ordo_disease {source="Orphanet:168451"}
synonym: "SEMDAD" RELATED [MONDO:Lexical, OMIM:601668]
synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668]
synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition; SEMDAD" RELATED [OMIM:601668]
xref: ICD10:Q77.7 {source="ORDO:168451/attributed", source="ORDO:168451/ntbt", source="Orphanet:168451"}
xref: MESH:C566644 {source="MONDO:equivalentTo"}
xref: OMIM:601668 {source="MONDO:equivalentTo", source="Orphanet:168451", source="ORDO:168451/e"}
xref: Orphanet:168451 {source="MONDO:equivalentTo", source="OMIM:601668"}
xref: UMLS:C1866507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601668", source="Orphanet:168451"}
is_a: MONDO:0016761 {source="Orphanet:168451"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C566644
property_value: exactMatch http://identifiers.org/omim/601668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866507
property_value: exactMatch Orphanet:168451

[Term]
id: MONDO:0011125
name: trichothiodystrophy 1, photosensitive
synonym: "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation" RELATED [OMIM:601675]
synonym: "PIBIDS syndrome" RELATED [OMIM:601675]
synonym: "Tay syndrome" RELATED [OMIM:601675]
synonym: "trichothiodystrophy 1, photosensitive" EXACT [MONDO:Lexical, OMIM:601675]
synonym: "trichothiodystrophy 1, photosensitive; TTD1" RELATED [OMIM:601675]
synonym: "trichothiodystrophy with congenital ichthyosis" RELATED [OMIM:601675]
synonym: "trichothiodystrophy, photosensitive" RELATED [OMIM:601675]
synonym: "TTD1" RELATED [MONDO:Lexical, OMIM:601675]
xref: OMIM:601675 {source="MONDO:equivalentTo"}
xref: Orphanet:670 {source="MONDO:obsoleteEquivalent", source="OMIM:601675"}
is_a: MONDO:0002470 {source="DC-OMIM:601675", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866504
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866505
property_value: exactMatch http://identifiers.org/omim/601675
property_value: exactMatch Orphanet:670

[Term]
id: MONDO:0011126
name: acute insulin response
synonym: "acute insulin response" EXACT [OMIM:601676]
synonym: "Air" RELATED [OMIM:601676]
xref: COHD:19103572 {source="MONDO:equivalentTo"}
xref: OMIM:601676 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866503
property_value: exactMatch http://identifiers.org/omim/601676

[Term]
id: MONDO:0011127
name: Bartter disease type 1
def: "Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome" [Orphanet:93604]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:93604"}
synonym: "antenatal Bartter syndrome" RELATED [Orphanet:93604]
synonym: "antenatal Bartter syndrome type 1" RELATED [GARD:0000830]
synonym: "BARTS1" EXACT [DOID:0110142]
synonym: "Bartter syndrome antenatal type 1" RELATED [GARD:0000830]
synonym: "Bartter syndrome caused by mutation in SLC12A1" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 1" EXACT [DOID:0110142]
synonym: "Bartter syndrome type 1 antenatal" EXACT [DOID:0110142]
synonym: "Bartter syndrome, antenatal, type 1" RELATED [OMIM:601678]
synonym: "Bartter syndrome, furosemide type" EXACT [Orphanet:93604]
synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [Orphanet:93604]
synonym: "Bartter syndrome, type 1, antenatal" RELATED [OMIM:601678]
synonym: "Bartter syndrome, type 1, antenatal; BARTS1" RELATED [OMIM:601678]
synonym: "hyperprostaglandin E syndrome" EXACT [Orphanet:93604]
synonym: "hyperprostaglandin E syndrome 1" EXACT [DOID:0110142]
synonym: "hyperprostaglandin E syndrome 1" RELATED [GARD:0000830, OMIM:601678]
synonym: "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT [DOID:0110142]
synonym: "hypokalemic alkalosis with hypercalciuria 1, antenatal" RELATED [OMIM:601678]
synonym: "hypokalemic alkalosis with hypercalciuria antenatal 1" RELATED [GARD:0000830]
synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM:601678]
synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110142 {source="MONDO:equivalentTo"}
xref: GARD:0000830 {source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="ORDO:93604/attributed", source="ORDO:93604/ntbt", source="DOID:0110142", source="Orphanet:93604"}
xref: MESH:C537652 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601678 {source="MONDO:equivalentTo", source="GARD:0000830", source="ORDO:93604/e", source="DOID:0110142", source="Orphanet:93604"}
xref: Orphanet:93604 {source="MONDO:equivalentTo", source="OMIM:601678"}
xref: SCTID:700107006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="MONDOLEX:0011127", source="OMIM:601678", source="Orphanet:93604", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866495
property_value: exactMatch DOID:0110142
property_value: exactMatch http://identifiers.org/mesh/C537652
property_value: exactMatch http://identifiers.org/omim/601678
property_value: exactMatch http://identifiers.org/snomedct/700107006
property_value: exactMatch Orphanet:93604

[Term]
id: MONDO:0011128
name: Sheldon-hall syndrome
def: "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." [Orphanet:1147]
subset: ordo_malformation_syndrome {source="Orphanet:1147"}
synonym: "arthrogryposis multiplex congenita distal type 2B" RELATED [GARD:0009909]
synonym: "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" RELATED [GARD:0009909]
synonym: "arthrogryposis multiplex congenita, distal, type 2B" RELATED [OMIM:601680]
synonym: "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" RELATED [OMIM:601680]
synonym: "arthrogryposis, distal, type 2B" RELATED [MONDO:Lexical, OMIM:601680]
synonym: "arthrogryposis, distal, type 2B; DA2B" RELATED [OMIM:601680]
synonym: "DA2B" RELATED [MONDO:Lexical, OMIM:601680]
synonym: "distal arthrogryposis type 2B" EXACT [Orphanet:1147]
synonym: "Freeman Sheldon syndrome, variant" RELATED [GARD:0009909]
synonym: "Freeman Sheldon variant" RELATED [GARD:0009909]
synonym: "Freeman-Sheldon syndrome variant" EXACT [Orphanet:1147]
synonym: "Sheldon-Hall syndrome" EXACT [OMIM:601680]
xref: GARD:0009909 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q68.8 {source="Orphanet:1147", source="ORDO:1147/attributed", source="ORDO:1147/ntbt"}
xref: OMIM:601680 {source="Orphanet:1147", source="ORDO:1147/e", source="MONDO:equivalentTo"}
xref: Orphanet:1147 {source="MONDO:equivalentTo", source="OMIM:601680"}
xref: UMLS:C1834523 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1147", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601680"}
is_a: MONDO:0019942 {source="Orphanet:1147"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/omim/601680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834523
property_value: exactMatch Orphanet:1147

[Term]
id: MONDO:0011129
name: glaucoma type 1C
subset: gard_rare
synonym: "glaucoma 1, primary open angle, C" RELATED [MONDO:Lexical, OMIM:601682]
synonym: "glaucoma 1, primary open angle, C; GLC1C" RELATED [OMIM:601682]
synonym: "GLC1C" RELATED [MONDO:Lexical, OMIM:601682]
xref: GARD:0002484 {source="MONDO:equivalentTo"}
xref: OMIM:601682 {source="MONDO:equivalentTo"}
xref: UMLS:C1866483 {source="OMIM:601682", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="OMIM:601682"} ! open-angle glaucoma
is_a: MONDO:0020366 ! congenital glaucoma
property_value: exactMatch http://identifiers.org/omim/601682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866483
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c xsd:anyURI {source="GARD:0002484"}

[Term]
id: MONDO:0011130
name: sebaceous gland hyperplasia, familial presenile
subset: gard_rare {source="GARD:0010031"}
synonym: "sebaceous gland hyperplasia, familial presenile" EXACT [OMIM:601700]
xref: GARD:0010031 {source="MONDO:equivalentTo"}
xref: MESH:C537530 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601700 {source="MONDO:equivalentTo"}
xref: UMLS:C1866428 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537530
property_value: exactMatch http://identifiers.org/omim/601700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866428
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile xsd:anyURI {source="GARD:0010031"}

[Term]
id: MONDO:0011131
name: tricho-oculo-dermo-vertebral syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3354"}
synonym: "Alves syndrome" RELATED [OMIM:601701]
synonym: "Alves-dos Santos-Castelo syndrome" EXACT [Orphanet:3354]
synonym: "arthrogryposis and ectodermal dysplasia" RELATED [OMIM:601701]
synonym: "ectodermal dysplasia - cataracts - kyphoscoliosis" RELATED [GARD:0001553]
synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [Orphanet:3354]
synonym: "Todv syndrome" RELATED [OMIM:601701]
synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701]
xref: GARD:0001553 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537441 {source="MONDO:equivalentTo"}
xref: OMIM:601701 {source="Orphanet:3354", source="ORDO:3354/e", source="MONDO:equivalentTo"}
xref: Orphanet:3354 {source="MONDO:equivalentTo", source="OMIM:601701"}
is_a: MONDO:0019287 {source="MESH:C537441", source="MONDOLEX:0011131", source="Orphanet:3354"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866427
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931256
property_value: exactMatch http://identifiers.org/mesh/C537441
property_value: exactMatch http://identifiers.org/omim/601701
property_value: exactMatch Orphanet:3354

[Term]
id: MONDO:0011132
name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." [DOID:0060769, https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, PMID:10206641, PMID:8911612]
subset: gard_rare {source="GARD:0004358"}
subset: ordo_disease {source="Orphanet:169095"}
synonym: "alopecia immunodeficiency" EXACT []
synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769]
synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" RELATED [GARD:0004358]
synonym: "FOXN1 deficiency" EXACT [Orphanet:169095]
synonym: "Pignata Guarino syndrome" RELATED [GARD:0004358]
synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [DOID:0060769, Orphanet:169095]
synonym: "T-cell immunodeficiency, congenital alopecia and nail dystrophy" RELATED [GARD:0004358]
synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [OMIM:601705]
synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095]
xref: DOID:0060769 {source="MONDO:equivalentTo"}
xref: GARD:0004358 {source="MONDO:equivalentTo"}
xref: ICD10:D82.8 {source="ORDO:169095/attributed", source="ORDO:169095/ntbt", source="DOID:0060769", source="Orphanet:169095"}
xref: MESH:C536781 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601705 {source="MONDO:equivalentTo", source="ORDO:169095/e", source="DOID:0060769", source="Orphanet:169095"}
xref: Orphanet:169095 {source="MONDO:equivalentTo", source="DOID:0060769", source="OMIM:601705"}
xref: SCTID:720345008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.69"}
xref: UMLS:C1866426 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601705"}
is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease)
is_a: MONDO:0018035 {source="Orphanet:169095"} ! syndrome with combined immunodeficiency
property_value: exactMatch DOID:0060769
property_value: exactMatch http://identifiers.org/mesh/C536781
property_value: exactMatch http://identifiers.org/omim/601705
property_value: exactMatch http://identifiers.org/snomedct/720345008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866426
property_value: exactMatch Orphanet:169095
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy xsd:anyURI {source="GARD:0004358"}

[Term]
id: MONDO:0011133
name: deaf blind hypopigmentation syndrome, Yemenite type
def: "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." [Orphanet:3214]
subset: ordo_malformation_syndrome {source="Orphanet:3214"}
synonym: "Warburg Thomsen syndrome" RELATED [GARD:0005535]
synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214]
synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535]
synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214]
xref: GARD:0005535 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536771 {source="ORDO:3214/e", source="Orphanet:3214", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601706 {source="ORDO:3214/e", source="Orphanet:3214", source="MONDO:equivalentTo"}
xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"}
xref: SCTID:721084001 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C1866425 {source="ORDO:3214/e", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="Orphanet:3214", source="MONDO:equivalentTo", source="OMIM:601706"}
is_a: MONDO:0019290 {source="MESH:C536771", source="Orphanet:3214"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0019589 {source="Orphanet:3214"} ! syndromic genetic deafness
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C536771
property_value: exactMatch http://identifiers.org/omim/601706
property_value: exactMatch http://identifiers.org/snomedct/721084001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866425
property_value: exactMatch Orphanet:3214

[Term]
id: MONDO:0011134
name: curry-Jones syndrome
def: "Curry-Jones syndrome is a form of syndromic craniosynostosis (see this term), characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma (see this term) have been reported." [Orphanet:1553]
subset: gard_rare {source="GARD:0005584"}
subset: ordo_malformation_syndrome {source="Orphanet:1553"}
synonym: "corpus callosum agenesis polysyndactyly" RELATED [GARD:0005584]
synonym: "corpus callosum agenesis-polysyndactyly syndrome" EXACT [Orphanet:1553]
synonym: "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" RELATED [OMIM:601707]
synonym: "CRJS" RELATED [OMIM:601707]
synonym: "curry Jones syndrome" RELATED [GARD:0005584]
synonym: "curry-Jones syndrome" EXACT [OMIM:601707]
synonym: "curry-JONES syndrome; CRJS" RELATED [OMIM:601707]
xref: GARD:0005584 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1553", source="ORDO:1553/attributed", source="ORDO:1553/ntbt"}
xref: MESH:C536735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601707 {source="ORDO:1553/e", source="Orphanet:1553", source="MONDO:equivalentTo"}
xref: Orphanet:1553 {source="MONDO:equivalentTo", source="OMIM:601707"}
xref: SCTID:720819006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0795915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601707"}
is_a: MONDO:0015338 {source="Orphanet:1553"} ! syndromic craniosynostosis
is_a: MONDO:0017122 ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1553"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C536735
property_value: exactMatch http://identifiers.org/omim/601707
property_value: exactMatch http://identifiers.org/snomedct/720819006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795915
property_value: exactMatch Orphanet:1553
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome xsd:anyURI {source="GARD:0005584"}

[Term]
id: MONDO:0011135
name: superior transverse scapular ligament, calcification of, familial
synonym: "superior transverse scapular ligament, calcification of, familial" EXACT [OMIM:601708]
xref: MESH:C566638 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601708 {source="MONDO:equivalentTo"}
xref: UMLS:C1866424 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601708"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566638
property_value: exactMatch http://identifiers.org/omim/601708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866424

[Term]
id: MONDO:0011136
name: Quebec platelet disorder
def: "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." [Orphanet:220436]
subset: gard_rare {source="GARD:0008345"}
subset: ordo_disease {source="Orphanet:220436"}
synonym: "BDPLT5" EXACT [DOID:0111050]
synonym: "bleeding disorder, platelet-type, 5" RELATED [OMIM:601709]
synonym: "factor 5 Quebec" RELATED [OMIM:601709]
synonym: "factor V Quebec" EXACT [DOID:0111050, Orphanet:220436]
synonym: "platelet-type bleeding disorder 5" EXACT [DOID:0111050]
synonym: "QPD" RELATED [MONDO:Lexical, OMIM:601709]
synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709]
synonym: "Quebec platelet disorder; QPD" RELATED [OMIM:601709]
xref: DOID:0111050 {source="MONDO:equivalentTo"}
xref: GARD:0008345 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="ORDO:220436/attributed", source="ORDO:220436/ntbt", source="DOID:0111050", source="Orphanet:220436"}
xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e", source="MONDO:ontobio"}
xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e"}
xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"}
xref: UMLS:C1866423 {source="OMIM:601709", source="MEDGEN:kboom-pr98-c99", source="DOID:0111050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e"}
is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease
property_value: exactMatch DOID:0111050
property_value: exactMatch http://identifiers.org/mesh/C536260
property_value: exactMatch http://identifiers.org/omim/601709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866423
property_value: exactMatch Orphanet:220436
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder xsd:anyURI {source="GARD:0008345"}

[Term]
id: MONDO:0011137
name: retinitis pigmentosa 19
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010398"}
synonym: "ABCA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 19" EXACT [MONDO:Lexical, OMIM:601718]
synonym: "retinitis pigmentosa 19; RP19" RELATED [OMIM:601718]
synonym: "retinitis pigmentosa caused by mutation in ABCA4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 19" EXACT [DOID:0110354, MONDORULE:2, OMIM:601718]
synonym: "RP 19" RELATED [GARD:0010398]
synonym: "RP19" EXACT [DOID:0110354, MONDO:Lexical, OMIM:601718]
xref: DOID:0110354 {source="MONDO:equivalentTo"}
xref: GARD:0010398 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110354"}
xref: MESH:C566637 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601718 {source="MONDO:equivalentTo", source="DOID:0110354"}
xref: UMLS:C1866422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601718"}
is_a: MONDO:0019200 {source="DC-OMIM:601718", source="DOID:0110354", source="MESH:C566637", source="MONDO:Redundant", source="OMIM:601718"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110354
property_value: exactMatch http://identifiers.org/mesh/C566637
property_value: exactMatch http://identifiers.org/omim/601718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866422
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19 xsd:anyURI {source="GARD:0010398"}

[Term]
id: MONDO:0011138
name: systemic lupus erythematosus, susceptibility to, 1
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "SLEB1" EXACT [MONDO:Lexical, OMIM:601744]
synonym: "susceptibility to systemic lupus erythematosus 1" EXACT [OMIM:601744]
synonym: "systemic lupus erythematosus (disease) caused by mutation in TLR5" EXACT []
synonym: "systemic lupus erythematosus, resistance to, 1" EXACT [OMIM:601744]
synonym: "systemic lupus erythematosus, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:601744]
synonym: "systemic lupus erythematosus, susceptibility to, 1; SLEB1" EXACT [OMIM:601744]
synonym: "systemic lupus erythematosus, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:601744]
synonym: "TLR5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:601744 {source="MONDO:equivalentTo"}
is_a: MONDO:0007915 {source="DC-OMIM:601744", source="MONDO:Redundant", source="MONDOLEX:0011138"} ! systemic lupus erythematosus (disease)
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020573 ! inherited disease susceptibility
is_a: MONDO:0021181 ! inherited blood coagulation disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864265
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866373
property_value: exactMatch http://identifiers.org/omim/601744

[Term]
id: MONDO:0011139
name: preaxial hallucal polydactyly
synonym: "preaxial hallucal polydactyly" EXACT [OMIM:601759]
xref: MESH:C566632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601759 {source="MONDO:equivalentTo"}
xref: UMLS:C1866339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601759"}
is_a: MONDO:0016018 {source="ORDO:1926/btnt"} ! diabetic embryopathy
property_value: exactMatch http://identifiers.org/mesh/C566632
property_value: exactMatch http://identifiers.org/omim/601759
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866339

[Term]
id: MONDO:0011140
name: benign familial neonatal-infantile seizures
def: "Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant." [Orphanet:140927]
subset: gard_rare
subset: ordo_disease {source="Orphanet:140927"}
synonym: "benign familial infantile convulsions" RELATED [GARD:0001518]
synonym: "benign neonatal-infantile epilepsy" EXACT [Orphanet:140927]
synonym: "BFIS1" RELATED [MONDO:Lexical, OMIM:601764]
synonym: "BFNIS" EXACT [GARD:0001518, Orphanet:140927]
synonym: "convulsions benign familial neonatal" RELATED [GARD:0001518]
synonym: "convulsions, benign familial infantile, 1" RELATED [OMIM:601764]
synonym: "epilepsy, benign neonatal-infantile" RELATED [GARD:0001518]
synonym: "seizures, benign familial infantile, 1" RELATED [MONDO:Lexical, OMIM:601764]
synonym: "seizures, benign familial infantile, 1; BFIS1" RELATED [OMIM:601764]
xref: GARD:0001518 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="Orphanet:140927", source="ORDO:140927/attributed", source="ORDO:140927/ntbt"}
xref: MedDRA:10067866 {source="Orphanet:140927", source="ORDO:140927/e"}
xref: Orphanet:140927 {source="MONDO:equivalentTo", source="GARD:0001518"}
is_a: MONDO:0017615 {source="OMIM:601764"} ! benign familial infantile epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866328
property_value: exactMatch http://identifiers.org/meddra/10067866
property_value: exactMatch Orphanet:140927

[Term]
id: MONDO:0011141
name: folate level in erythrocytes
synonym: "folate level in erythrocytes" RELATED [OMIM:601775]
xref: OMIM:601775 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866295
property_value: exactMatch http://identifiers.org/omim/601775

[Term]
id: MONDO:0011142
name: Ehlers-Danlos syndrome, musculocontractural type
def: "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." [Orphanet:2953]
subset: ordo_disease {source="Orphanet:2953"}
synonym: "adducted thumb clubfoot syndrome" RELATED [GARD:0008486]
synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608, OMIM:601776]
synonym: "adducted thumb-club foot syndrome" RELATED [GARD:0000545]
synonym: "adducted thumb-clubfoot syndrome" EXACT [MESH:C000600608, OMIM:601776, Orphanet:2953]
synonym: "adducted thumbs Dundar type" RELATED [MESH:C000600608]
synonym: "adducted thumbs-arthrogryposis syndrome, Dundar type" EXACT [Orphanet:2953]
synonym: "arthrogryposis, distal, with peculiar facies and hydronephrosis" RELATED [MESH:C000600608, OMIM:601776]
synonym: "ATCS" EXACT [MESH:C000600608, Orphanet:2953]
synonym: "autosomal recessive adducted thumb-club foot syndrome" RELATED [GARD:0008486]
synonym: "CHST14-related EDS" EXACT [Orphanet:2953]
synonym: "CHST14-related Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
synonym: "D4ST1-deficient EDS" EXACT [Orphanet:2953]
synonym: "D4ST1-deficient Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
synonym: "Dundar syndrome" RELATED [MESH:C000600608, OMIM:601776]
synonym: "EDS, arthrogryposic type" EXACT [Orphanet:2953]
synonym: "EDS, Kosho type" EXACT [Orphanet:2953]
synonym: "EDS, musculocontractural type" EXACT [Orphanet:2953]
synonym: "EDS6B, formerly" RELATED [MESH:C000600608]
synonym: "EDSMC" RELATED [MESH:C000600608]
synonym: "EDSmc" RELATED [OMIM:601776]
synonym: "EDSMC1" RELATED [MESH:C000600608, MONDO:Lexical, OMIM:601776]
synonym: "Ehlers-Danlos syndrome, arthrogryposic type" EXACT [Orphanet:2953]
synonym: "Ehlers-Danlos syndrome, Kosho type" EXACT [Orphanet:2953]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 1" RELATED [MONDO:Lexical, OMIM:601776]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 1; EDSMC1" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [MESH:C000600608]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type VIB, formerly" RELATED [MESH:C000600608]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776]
synonym: "MCEDS" EXACT [Orphanet:2953]
synonym: "musculocontractural EDS" RELATED [GARD:0008486]
synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
xref: GARD:0000545 {source="MONDO:equivalentTo"}
xref: GARD:0008486 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:2953/attributed", source="ORDO:2953/ntbt", source="Orphanet:2953"}
xref: MESH:C000600608 {source="MONDO:equivalentTo"}
xref: Orphanet:2953 {source="MONDO:equivalentTo"}
xref: SCTID:720860004 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017742 {source="Orphanet:2953"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018284 {source="Orphanet:2953"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018290 {source="Orphanet:2953"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0018293 {source="Orphanet:2953"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0018294 {source="Orphanet:2953"} ! congenital disorder of glycosylation with nephropathy as a major feature
is_a: MONDO:0019942 {source="Orphanet:2953"} ! distal arthrogryposis
is_a: MONDO:0020066 {source="DC-OMIM:601776", source="MESH:C000600608", source="MONDOLEX:0011142", source="OMIM:601776", source="Orphanet:2953", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866294
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931780
property_value: exactMatch http://identifiers.org/mesh/C000600608
property_value: exactMatch http://identifiers.org/omim/601776
property_value: exactMatch http://identifiers.org/snomedct/720860004
property_value: exactMatch Orphanet:2953
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type xsd:anyURI {source="GARD:0000545"}

[Term]
id: MONDO:0011143
name: cone-rod dystrophy 6
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 6" EXACT [MONDO:Lexical, OMIM:601777]
synonym: "cone-rod dystrophy 6; CORD6" RELATED [OMIM:601777]
synonym: "cone-rod dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 6" EXACT [DOID:0111011, MONDORULE:1, OMIM:601777]
synonym: "CORD6" EXACT [DOID:0111011, MONDO:Lexical, OMIM:601777]
synonym: "GUCY2D cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCD2" EXACT [DOID:0111011, OMIM:601251, OMIM:601777]
synonym: "retinal cone dystrophy 2" EXACT [DOID:0111011, OMIM:601777]
xref: DOID:0111011 {source="MONDO:equivalentTo"}
xref: GARD:0010656 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C538363 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601777 {source="MONDO:equivalentTo", source="DOID:0111011"}
xref: UMLS:C1866293 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601777"}
is_a: MONDO:0015993 {source="DC-OMIM:601777", source="DOID:0111011", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111011
property_value: exactMatch http://identifiers.org/mesh/C538363
property_value: exactMatch http://identifiers.org/omim/601777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866293

[Term]
id: MONDO:0011144
name: neuronal ceroid lipofuscinosis 6
def: "Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes ( mutations ) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6]
subset: clingen
subset: gard_rare {source="GARD:0001224"}
subset: ordo_etiological_subtype {source="Orphanet:228363"}
synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical, OMIM:601780]
synonym: "ceroid lipofuscinosis, neuronal, 6, variable Age at onset" RELATED [OMIM:601780]
synonym: "ceroid lipofuscinosis, neuronal, 6; CLN6" RELATED [OMIM:601780]
synonym: "ceroid lipofuscinosis, neuronal, type 6" EXACT [MONDORULE:1, OMIM:601780]
synonym: "CLN6" EXACT [DOID:0110729, MONDO:Lexical, OMIM:601780]
synonym: "CLN6 disease" RELATED [Orphanet:228363]
synonym: "CLN6 disease, adult Kufs type A (subtype)" RELATED [GARD:0001224]
synonym: "CLN6 disease, late infantile (subtype)" RELATED [GARD:0001224]
synonym: "CLN6 late infantile neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [DOID:0110729]
synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [DOID:0110729, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" RELATED [GARD:0001224]
synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" RELATED [OMIM:601780]
xref: DOID:0110729 {source="MONDO:equivalentTo"}
xref: GARD:0001224 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:228363/attributed", source="ORDO:228363/ntbt", source="DOID:0110729", source="Orphanet:228363"}
xref: MESH:C566627 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601780 {source="MONDO:equivalentTo", source="DOID:0110729", source="ORDO:228363/e", source="Orphanet:228363"}
xref: Orphanet:228363 {source="MONDO:equivalentTo", source="DOID:0110729", source="OMIM:601780"}
is_a: MONDO:0008768 ! neuronal ceroid lipofuscinosis 4A
is_a: MONDO:0015674 {source="MONDO:Redundant", source="ORDO:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866282
property_value: exactMatch DOID:0110729
property_value: exactMatch http://identifiers.org/mesh/C566627
property_value: exactMatch http://identifiers.org/omim/601780
property_value: exactMatch Orphanet:228363
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 xsd:anyURI {source="GARD:0001224"}

[Term]
id: MONDO:0011145
name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
subset: ordo_disease {source="Orphanet:363741"}
synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED [OMIM:601794]
xref: ICD10:Q87.8 {source="ORDO:363741/attributed", source="ORDO:363741/ntbt", source="Orphanet:363741"}
xref: MESH:C566623 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601794 {source="ORDO:363741/e", source="MONDO:equivalentTo", source="Orphanet:363741"}
xref: Orphanet:363741 {source="OMIM:601794", source="MONDO:equivalentTo"}
xref: UMLS:C1866256 {source="OMIM:601794", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363741"}
is_a: MONDO:0015159 {source="Orphanet:363741"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="Orphanet:363741"} ! syndromic microphthalmia
is_a: MONDO:0016565 {source="Orphanet:363741"} ! syndromic genetic obesity
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C566623
property_value: exactMatch http://identifiers.org/omim/601794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866256
property_value: exactMatch Orphanet:363741

[Term]
id: MONDO:0011146
name: tetrasomy 12p
def: "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." [Orphanet:884]
subset: ordo_malformation_syndrome {source="Orphanet:884"}
synonym: "chromosome 12, Isochromosome 12p syndrome" RELATED [GARD:0008421]
synonym: "Hexasomy 12P, Mosaic" RELATED [OMIM:601803]
synonym: "Isochromosome 12p mosaicism" EXACT [Orphanet:884]
synonym: "Isochromosome 12P syndrome" RELATED [OMIM:601803]
synonym: "Isochromosome 12p syndrome" EXACT [Orphanet:884]
synonym: "Killian syndrome" RELATED [GARD:0008421]
synonym: "Killian Teschler-Nicola syndrome" RELATED [GARD:0008421]
synonym: "Pallister Killian syndrome" RELATED [GARD:0008421]
synonym: "Pallister mosaic syndrome" RELATED [GARD:0008421]
synonym: "Pallister-Killian mosaic syndrome" RELATED [GARD:0008421]
synonym: "Pallister-Killian syndrome" EXACT [MONDO:Lexical, OMIM:601803, Orphanet:884]
synonym: "Pallister-Killian syndrome; PKS" RELATED [OMIM:601803]
synonym: "PKS" RELATED [MONDO:Lexical, OMIM:601803]
synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421]
synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803]
synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884]
xref: GARD:0008421 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q99.8 {source="Orphanet:884", source="ORDO:884/attributed", source="ORDO:884/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538105 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75458 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.51"}
xref: OMIM:601803 {source="Orphanet:884", source="MONDO:equivalentTo", source="ORDO:884/e"}
xref: Orphanet:884 {source="MONDO:equivalentTo", source="OMIM:601803"}
xref: SCTID:9527009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265449 {source="Orphanet:884", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601803", source="ORDO:884/e", source="NCIT:C75458"}
is_a: MONDO:0015216 {source="Orphanet:884"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015246 {source="Orphanet:884"} ! syndromic anorectal malformation
is_a: MONDO:0015652 {source="Orphanet:884", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0015880 {source="Orphanet:884"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0016933 {source="Orphanet:884"} ! partial trisomy/tetrasomy of the short arm of chromosome 12
is_a: MONDO:0019717 {source="Orphanet:884"} ! chromosomal disease with overgrowth
is_a: MONDO:0030502 ! tetrasomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748628
property_value: exactMatch http://identifiers.org/mesh/C538105
property_value: exactMatch http://identifiers.org/omim/601803
property_value: exactMatch http://identifiers.org/snomedct/9527009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265449
property_value: exactMatch NCIT:C75458
property_value: exactMatch Orphanet:884

[Term]
id: MONDO:0011147
name: chromosome 18q deletion syndrome
def: "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." [NCIT:C84522]
subset: ordo_malformation_syndrome {source="Orphanet:1600"}
synonym: "18q deletion syndrome" EXACT [NCIT:C84522]
synonym: "18Q syndrome" EXACT [NCIT:C84522]
synonym: "18Q- syndrome" RELATED [OMIM:601808]
synonym: "18q- syndrome" EXACT [DOID:0060407, Orphanet:1600]
synonym: "18q-syndrome" EXACT [NCIT:C84522]
synonym: "chromosome 18q deletion syndrome" EXACT [OMIM:601808]
synonym: "chromosome 18Q- syndrome" RELATED [OMIM:601808]
synonym: "deletion 18q" EXACT [DOID:0060407, Orphanet:1600]
synonym: "deletion 18q syndrome" EXACT [NCIT:C84522]
synonym: "monosomy 18q" EXACT [DOID:0060407]
synonym: "monosomy 18q syndrome" RELATED [GARD:0010866]
synonym: "monosomy type 18q" EXACT [MONDORULE:4, Orphanet:1600]
synonym: "proximal 18q deletion" RELATED [GARD:0010866]
synonym: "proximal 18q deletion syndrome" RELATED [GARD:0010866]
synonym: "proximal 18q-" RELATED [GARD:0010866]
synonym: "proximal chromosome 18q deletion syndrome" RELATED [GARD:0010866]
xref: DOID:0060407 {source="MONDO:equivalentTo"}
xref: GARD:0010866 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="ORDO:1600/attributed", source="ORDO:1600/ntbt", source="Orphanet:1600", source="DOID:0060407"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536580 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060407"}
xref: NCIT:C84522 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.83"}
xref: OMIM:601808 {source="MONDO:equivalentTo", source="Orphanet:1600", source="ORDO:1600/e", source="DOID:0060407"}
xref: Orphanet:1600 {source="OMIM:601808", source="MONDO:equivalentTo", source="DOID:0060407"}
xref: SCTID:270889005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.70"}
xref: UMLS:C0432443 {source="OMIM:601808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1600", source="ORDO:1600/e", source="NCIT:C84522"}
is_a: MONDO:0000761 {source="DC-OMIM:601808", source="DOID:0060407"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84522", source="indirect"} ! syndromic disease
is_a: MONDO:0015501 {source="Orphanet:1600"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016916 {source="MONDOLEX:0011147", source="Orphanet:1600"} ! partial deletion of the long arm of chromosome 18
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020226 ! chromosomal anomaly with cataract
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1600"} ! chromosomal anomaly with cataract
property_value: exactMatch DOID:0060407
property_value: exactMatch http://identifiers.org/mesh/C536580
property_value: exactMatch http://identifiers.org/omim/601808
property_value: exactMatch http://identifiers.org/snomedct/270889005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931249
property_value: exactMatch NCIT:C84522
property_value: exactMatch Orphanet:1600

[Term]
id: MONDO:0011148
name: Spondylospinal thoracic dysostosis
def: "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." [https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis]
subset: gard_rare {source="GARD:0010571"}
synonym: "spondylospinal thoracic dysostosis" EXACT [OMIM:601809]
xref: GARD:0010571 {source="MONDO:equivalentTo"}
xref: MESH:C566622 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601809 {source="MONDO:equivalentTo"}
xref: UMLS:C1866184 {source="OMIM:601809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566622/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566622
property_value: exactMatch http://identifiers.org/omim/601809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866184
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis xsd:anyURI {source="GARD:0010571"}

[Term]
id: MONDO:0011149
name: premature aging syndrome, Okamoto type
synonym: "premature aging Okamoto type" RELATED [GARD:0004478]
synonym: "premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" RELATED [GARD:0004478]
synonym: "premature aging syndrome, Okamoto type" EXACT [OMIM:601811]
xref: GARD:0004478 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566621 {source="MONDO:equivalentTo"}
xref: OMIM:601811 {source="MONDO:equivalentTo"}
xref: UMLS:C1866183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601811"}
is_a: MONDO:0019303 ! premature aging syndrome
property_value: exactMatch http://identifiers.org/mesh/C566621
property_value: exactMatch http://identifiers.org/omim/601811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866183

[Term]
id: MONDO:0011150
name: acroosteolysis-keloid-like lesions-premature aging syndrome
subset: gard_rare
subset: ordo_disease {source="Orphanet:363665"}
synonym: "PENTT" RELATED [MONDO:Lexical, OMIM:601812]
synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276]
synonym: "premature aging syndrome Penttinen type" RELATED [GARD:0004276]
synonym: "premature aging syndrome, Penttinen type" EXACT [GARD:0004498, MONDO:Lexical, OMIM:601812, Orphanet:363665]
synonym: "premature aging syndrome, Penttinen type; PENTT" RELATED [OMIM:601812]
synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" RELATED [GARD:0004276]
synonym: "progeroid syndrome, Penttinen type" RELATED [GARD:0004498]
xref: GARD:0004276 {source="MONDO:equivalentTo"}
xref: GARD:0004498 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="ORDO:363665/attributed", source="ORDO:363665/ntbt", source="Orphanet:363665"}
xref: MESH:C536653 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="ORDO:363665/e", source="GARD:0004276"}
xref: Orphanet:363665 {source="MONDO:equivalentTo", source="OMIM:601812"}
xref: UMLS:C1866182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363665", source="OMIM:601812", source="MEDGEN:kboom-pr92-c96", source="GARD:0004276"}
is_a: MONDO:0015333 {source="Orphanet:363665"} ! progeroid syndrome
property_value: exactMatch http://identifiers.org/mesh/C536653
property_value: exactMatch http://identifiers.org/omim/601812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866182
property_value: exactMatch Orphanet:363665

[Term]
id: MONDO:0011151
name: exudative vitreoretinopathy 4
synonym: "EVR4" RELATED [MONDO:Lexical, OMIM:601813]
synonym: "exudative vitreoretinopathy 4" EXACT [MONDO:Lexical, OMIM:601813]
synonym: "exudative vitreoretinopathy 4; EVR4" RELATED [OMIM:601813]
synonym: "exudative vitreoretinopathy type 4" EXACT [MONDORULE:1, OMIM:601813]
xref: MESH:C566619 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601813 {source="MONDO:equivalentTo"}
xref: UMLS:C1866176 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601813"}
is_a: MONDO:0019516 {source="DC-OMIM:601813", source="OMIM:601813"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/mesh/C566619
property_value: exactMatch http://identifiers.org/omim/601813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866176

[Term]
id: MONDO:0011152
name: PHGDH deficiency
def: "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" [Orphanet:79351]
subset: ordo_disease {source="Orphanet:79351"}
synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [Orphanet:79351]
synonym: "PHGDH deficiency" EXACT [OMIM:601815]
synonym: "PHGDHD" RELATED [MONDO:Lexical, OMIM:601815]
synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815]
synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency; PHGDHD" RELATED [OMIM:601815]
xref: DOID:0050722 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="ORDO:79351/attributed", source="ORDO:79351/ntbt", source="Orphanet:79351"}
xref: MESH:C566618 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="ORDO:79351/e", source="Orphanet:79351"}
xref: Orphanet:79351 {source="MONDO:equivalentTo", source="OMIM:601815"}
xref: UMLS:C1866174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:601815"}
is_a: MONDO:0000508 {source="Orphanet:79351"} ! syndromic intellectual disability
is_a: MONDO:0018491 {source="Orphanet:79351"} ! 3-phosphoglycerate dehydrogenase deficiency
property_value: exactMatch DOID:0050722
property_value: exactMatch http://identifiers.org/mesh/C566618
property_value: exactMatch http://identifiers.org/omim/601815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866174
property_value: exactMatch Orphanet:79351

[Term]
id: MONDO:0011153
name: hyperinsulinemic hypoglycemia, familial, 2
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "HHF2" RELATED [GARD:0009927, MONDO:Lexical, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [MONDO:cjm]
synonym: "hyperinsulinemic hypoglycemia familial 2" RELATED [GARD:0009927]
synonym: "hyperinsulinemic hypoglycemia, familial, 2" EXACT [MONDO:Lexical, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia, familial, 2; HHF2" RELATED [OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia, familial, type 2" EXACT [MONDORULE:1, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia, persistent" RELATED [OMIM:601820]
synonym: "hyperinsulinism, congenital" RELATED [OMIM:601820]
synonym: "hyperinsulinism, familial" RELATED [OMIM:601820]
synonym: "hyperinsulinism, neonatal" RELATED [OMIM:601820]
synonym: "KCNJ11 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Nesidioblastosis" RELATED [OMIM:601820]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:601820]
xref: DOID:0070218 {source="MONDO:equivalentTo"}
xref: GARD:0009927 {source="MONDO:equivalentTo"}
xref: OMIM:601820 {source="MONDO:equivalentTo", source="GARD:0009927"}
xref: UMLS:C2931833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009927", source="OMIM:601820"}
is_a: MONDO:0005803 {source="DC-OMIM:601820", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0019010 ! congenital isolated hyperinsulinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027773
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931832
property_value: exactMatch DOID:0070218
property_value: exactMatch http://identifiers.org/omim/601820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931833
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 xsd:anyURI {source="GARD:0009927"}

[Term]
id: MONDO:0011154
name: acrofacial dysostosis, Palagonia type
def: "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome (see this term), although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." [Orphanet:1787]
subset: ordo_malformation_syndrome {source="Orphanet:1787"}
synonym: "acrofacial dysostosis Palagonia type" RELATED [GARD:0000499]
synonym: "acrofacial dysostosis, Palagonia type" EXACT [OMIM:601829]
synonym: "acrofacial dysostosis, Patagonia type" EXACT MISSPELLING [DOID:0060385]
synonym: "AFD- Palagonia type" RELATED [GARD:0000499]
synonym: "PAFD" RELATED [GARD:0000499]
synonym: "Palagonia form of AFD" RELATED [GARD:0000499]
synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185]
xref: DOID:0060385 {source="MONDO:equivalentTo"}
xref: GARD:0000499 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.4 {source="ORDO:1787/attributed", source="ORDO:1787/ntbt", source="Orphanet:1787"}
xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e", source="MONDO:ontobio"}
xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e"}
xref: Orphanet:1787 {source="DOID:0060385", source="MONDO:equivalentTo", source="OMIM:601829"}
xref: SCTID:720429007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.39/0.89"}
xref: UMLS:C1866168 {source="DOID:0060385", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e", source="OMIM:601829"}
is_a: MONDO:0015334 {source="Orphanet:1787"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="DC-OMIM:601829", source="DOID:0060385", source="Orphanet:1787"} ! acrofacial dysostosis
property_value: exactMatch DOID:0060385
property_value: exactMatch http://identifiers.org/mesh/C538185
property_value: exactMatch http://identifiers.org/omim/601829
property_value: exactMatch http://identifiers.org/snomedct/720429007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866168
property_value: exactMatch Orphanet:1787

[Term]
id: MONDO:0011155
name: vacuolar Neuromyopathy
synonym: "muscular dystrophy, autosomal dominant, with rimmed vacuoles" RELATED [OMIM:601846]
synonym: "vacuolar Neuromyopathy" EXACT [OMIM:601846]
xref: MESH:C566617 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601846 {source="MONDO:equivalentTo"}
xref: UMLS:C1866139 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601846"}
is_a: MONDO:0003847 {source="MESH:C566617/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566617
property_value: exactMatch http://identifiers.org/omim/601846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866139

[Term]
id: MONDO:0011156
name: progressive familial intrahepatic cholestasis type 2
def: "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." [Orphanet:79304]
subset: gard_rare {source="GARD:0001288"}
subset: ordo_clinical_subtype {source="Orphanet:79304"}
synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BSEP deficiency" EXACT [Orphanet:79304]
synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:601847]
synonym: "cholestasis, progressive familial intrahepatic, 2; PFIC2" RELATED [OMIM:601847]
synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:601847]
synonym: "PFIC2" EXACT [MONDO:Lexical, OMIM:601847, Orphanet:79304]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" EXACT [MONDO:design_pattern]
synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288]
xref: DOID:0070222 {source="MONDO:equivalentTo"}
xref: GARD:0001288 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="Orphanet:79304", source="ORDO:79304/attributed", source="ORDO:79304/ntbt"}
xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="ORDO:79304/e"}
xref: Orphanet:79304 {source="MONDO:equivalentTo", source="OMIM:601847"}
xref: UMLS:CN205889 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2
is_a: MONDO:0015762 {source="MONDO:Redundant", source="MONDOLEX:0011156", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489789
property_value: exactMatch DOID:0070222
property_value: exactMatch http://identifiers.org/omim/601847
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205889
property_value: exactMatch Orphanet:79304
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 xsd:anyURI {source="GARD:0001288"}

[Term]
id: MONDO:0011157
name: Gomez-Lopez-Hernandez syndrome
def: "Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported." [Orphanet:1532]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1532"}
synonym: "Cerebellotrigeminal dermal dysplasia" RELATED [GARD:0000229]
synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [OMIM:601853]
synonym: "Cerebellotrigeminal-dermal dysplasia" RELATED [GARD:0000229]
synonym: "Cerebellotrigeminal-dermal dysplasia syndrome" EXACT [GARD:0000229, Orphanet:1532]
synonym: "craniosynostosis-alopecia-brain defect syndrome" EXACT [GARD:0000229, Orphanet:1532]
synonym: "GLHS" RELATED [MONDO:Lexical, OMIM:601853]
synonym: "Gomez Lopez Hernandez syndrome" RELATED [GARD:0000229]
synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853]
synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome; GLHS" RELATED [OMIM:601853]
synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229]
synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532]
xref: GARD:0000229 {source="MONDO:equivalentTo"}
xref: ICD10:Q07.8 {source="Orphanet:1532", source="ORDO:1532/attributed", source="ORDO:1532/ntbt"}
xref: MESH:C537285 {source="MONDO:equivalentTo"}
xref: OMIM:601853 {source="Orphanet:1532", source="ORDO:1532/e", source="MONDO:equivalentTo", source="GARD:0000229"}
xref: Orphanet:1532 {source="MONDO:equivalentTo", source="OMIM:601853", source="GARD:0000229"}
xref: SCTID:722451006 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1532"} ! syndromic intellectual disability
is_a: MONDO:0017118 {source="Orphanet:1532"} ! syndrome with a cerebellar malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795959
property_value: exactMatch http://identifiers.org/mesh/C537285
property_value: exactMatch http://identifiers.org/omim/601853
property_value: exactMatch http://identifiers.org/snomedct/722451006
property_value: exactMatch Orphanet:1532
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome xsd:anyURI {source="GARD:0000229"}

[Term]
id: MONDO:0011158
name: autoimmune lymphoproliferative syndrome type 1
synonym: "ALPS" RELATED [MONDO:Lexical, OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome" RELATED [MONDO:Lexical, OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type 1A" NARROW [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type 1B" NARROW [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal dominant" RELATED [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal recessive" RELATED [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome; ALPS" RELATED [OMIM:601859]
synonym: "Canale-Smith syndrome" RELATED [OMIM:601859]
xref: ICD9:279.41 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:601859 {source="MONDO:equivalentTo"}
xref: SCTID:702444009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0017979 {source="DC-OMIM:601859", source="MONDOLEX:0011158"} ! autoimmune lymphoproliferative syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866119
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866120
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866121
property_value: exactMatch http://identifiers.org/omim/601859
property_value: exactMatch http://identifiers.org/snomedct/702444009

[Term]
id: MONDO:0011159
name: autosomal dominant nonsyndromic deafness 13
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 13" EXACT [DOID:0110545]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 13" EXACT [DOID:0110545, MONDORULE:2]
synonym: "COL11A2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 13" RELATED [MONDO:Lexical, OMIM:601868]
synonym: "deafness, autosomal dominant 13; DFNA13" RELATED [OMIM:601868]
synonym: "deafness, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:601868]
synonym: "DFNA13" EXACT [DOID:0110545, MONDO:Lexical, OMIM:601868]
xref: DOID:0110545 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110545"}
xref: MESH:C566612 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601868 {source="DOID:0110545", source="MONDO:equivalentTo"}
xref: UMLS:C1866095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601868"}
is_a: MONDO:0019587 {source="DC-OMIM:601868", source="DOID:0110545", source="MONDO:Redundant", source="OMIM:601868"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110545
property_value: exactMatch http://identifiers.org/mesh/C566612
property_value: exactMatch http://identifiers.org/omim/601868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866095

[Term]
id: MONDO:0011160
name: autosomal recessive nonsyndromic deafness 15
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 15" EXACT [DOID:0110470]
synonym: "autosomal recessive deafness 72" EXACT [DOID:0110470]
synonym: "autosomal recessive deafness 95" EXACT [DOID:0110470]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 15" EXACT [DOID:0110470, MONDORULE:2]
synonym: "deafness, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:601869]
synonym: "deafness, autosomal recessive 15; DFNB15" RELATED [OMIM:601869]
synonym: "deafness, autosomal recessive 72" RELATED [OMIM:601869]
synonym: "deafness, autosomal recessive 95" RELATED [OMIM:601869]
synonym: "deafness, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:601869]
synonym: "DFNB15" EXACT [DOID:0110470, MONDO:Lexical, OMIM:601869]
synonym: "DFNB72" EXACT [DOID:0110470]
synonym: "DFNB95" EXACT [DOID:0110470]
synonym: "GIPC3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110470 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110470"}
xref: MESH:C566611 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601869 {source="MONDO:equivalentTo", source="DOID:0110470"}
xref: UMLS:C1866094 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601869"}
is_a: MONDO:0019588 {source="DC-OMIM:601869", source="DOID:0110470", source="MONDO:Redundant", source="OMIM:601869"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110470
property_value: exactMatch http://identifiers.org/mesh/C566611
property_value: exactMatch http://identifiers.org/omim/601869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866094

[Term]
id: MONDO:0011161
name: sperm-specific antigen 1
synonym: "fertilization antigen 1" RELATED [OMIM:601876]
synonym: "sperm-specific antigen 1" EXACT [MONDO:Lexical, OMIM:601876]
synonym: "sperm-specific antigen 1; SSFA1" RELATED [OMIM:601876]
synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1, OMIM:601876]
synonym: "SSFA1" RELATED [MONDO:Lexical, OMIM:601876]
xref: OMIM:601876 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1420425
property_value: exactMatch http://identifiers.org/omim/601876

[Term]
id: MONDO:0011162
name: cataract 14 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAE3" NARROW [DOID:0110253]
synonym: "Cae3" RELATED [OMIM:601885]
synonym: "cataract 14, multiple types" RELATED [MONDO:Lexical, OMIM:601885]
synonym: "cataract 14, multiple types; CTRCT14" RELATED [OMIM:601885]
synonym: "cataract, zonular pulverulent 3" RELATED [OMIM:601885]
synonym: "CTRCT14" EXACT [DOID:0110253, MONDO:Lexical, OMIM:601885]
synonym: "CZP3" NARROW [DOID:0110253]
synonym: "early-onset non-syndromic cataract caused by mutation in GJA3" EXACT [MONDO:design_pattern]
synonym: "GJA3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "zonular pulverulent cataract 3" NARROW [DOID:0110253]
xref: DOID:0110253 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110253"}
xref: MESH:C566608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601885 {source="MONDO:equivalentTo", source="DOID:0110253"}
xref: UMLS:C1866078 {source="OMIM:601885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110253
property_value: exactMatch http://identifiers.org/mesh/C566608
property_value: exactMatch http://identifiers.org/omim/601885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866078

[Term]
id: MONDO:0011163
name: malignant hyperthermia, susceptibility to, 5
def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
subset: predisposition
synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698]
synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern]
synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367]
synonym: "malignant hyperthermia, susceptibility to, 5" EXACT [MESH:C535698, OMIM:601887]
synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:601887]
synonym: "MHS5" RELATED [GARD:0003367, MESH:C535698]
synonym: "Mhs5" RELATED [OMIM:601887]
synonym: "susceptibility to malignant hyperthermia 5" RELATED [OMIM:601887]
xref: GARD:0003367 {source="MONDO:equivalentTo"}
xref: MESH:C535698 {source="MONDO:equivalentTo"}
xref: OMIM:601887 {source="GARD:0003367", source="MONDO:equivalentTo"}
is_a: MONDO:0018493 {source="DC-OMIM:601887", source="MESH:C535698", source="MONDO:Redundant", source="MONDOLEX:0011163", source="OMIM:601887"} ! malignant hyperthermia of anesthesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866077
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930984
property_value: exactMatch http://identifiers.org/mesh/C535698
property_value: exactMatch http://identifiers.org/omim/601887
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 xsd:anyURI {source="GARD:0003367"}

[Term]
id: MONDO:0011164
name: malignant hyperthermia, susceptibility to, 6
subset: gard_rare
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 6" RELATED [GARD:0003368, MESH:C535699]
synonym: "malignant hyperthermia susceptibility type 6" RELATED [GARD:0003368]
synonym: "malignant hyperthermia, susceptibility to, 6" EXACT [MESH:C535699, OMIM:601888]
synonym: "malignant hyperthermia, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:601888]
synonym: "MHS6" RELATED [GARD:0003368, MESH:C535699]
synonym: "Mhs6" RELATED [OMIM:601888]
xref: GARD:0003368 {source="MONDO:equivalentTo"}
xref: MESH:C535699 {source="MONDO:equivalentTo"}
xref: OMIM:601888 {source="GARD:0003368", source="MONDO:equivalentTo"}
is_a: MONDO:0018493 {source="DC-OMIM:601888", source="MESH:C535699", source="MONDOLEX:0011164", source="OMIM:601888"} ! malignant hyperthermia of anesthesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866076
property_value: exactMatch http://identifiers.org/mesh/C535699
property_value: exactMatch http://identifiers.org/omim/601888
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 xsd:anyURI {source="GARD:0003368"}

[Term]
id: MONDO:0011165
name: glomerulopathy with fibronectin deposits 2
def: "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "fibronectin glomerulopathy" RELATED [OMIM:601894]
synonym: "fibronectin glomerulopathy caused by mutation in FN1" EXACT [MONDO:design_pattern]
synonym: "FN1 fibronectin glomerulopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GFND2" RELATED [MONDO:Lexical, OMIM:601894]
synonym: "glomerular nephritis familial with fibronectin deposits" RELATED [GARD:0009914]
synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [OMIM:601894]
synonym: "glomerulopathy with fibronectin deposits 2" EXACT [MONDO:Lexical, OMIM:601894]
synonym: "glomerulopathy with fibronectin deposits 2; GFND2" RELATED [OMIM:601894]
synonym: "glomerulopathy with fibronectin deposits type 2" EXACT [MONDORULE:1, OMIM:601894]
xref: GARD:0009914 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:601894 {source="MONDO:equivalentTo"}
xref: SCTID:722759007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0007671 {source="MONDO:Redundant", source="OMIM:601894", source="ORDO:84090/btnt"} ! fibronectin glomerulopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866075
property_value: exactMatch http://identifiers.org/omim/601894
property_value: exactMatch http://identifiers.org/snomedct/722759007

[Term]
id: MONDO:0011166
name: lymphedema-atrial septal defects-facial changes syndrome
def: "Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." [Orphanet:86915]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:86915"}
synonym: "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539]
synonym: "Irons Bhan syndrome" RELATED [GARD:0000284]
synonym: "Irons-Bhan syndrome" EXACT [Orphanet:86915]
synonym: "Irons-Bianchi syndrome" EXACT [OMIM:601927, Orphanet:86915]
synonym: "lymphedema, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539]
synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927]
synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927]
xref: GARD:0000284 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:86915/attributed", source="ORDO:86915/ntbt", source="Orphanet:86915"}
xref: MESH:C535539 {source="MONDO:equivalentTo"}
xref: MESH:C567398 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601927 {source="MONDO:equivalentTo", source="ORDO:86915/e", source="Orphanet:86915", source="GARD:0000284"}
xref: Orphanet:86915 {source="MONDO:equivalentTo", source="OMIM:601927"}
xref: SCTID:721978002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0018722 {source="Orphanet:86915"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019520 {source="Orphanet:86915"} ! syndromic lymphedema
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677167
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930926
property_value: exactMatch http://identifiers.org/mesh/C535539
property_value: exactMatch http://identifiers.org/mesh/C567398
property_value: exactMatch http://identifiers.org/omim/601927
property_value: exactMatch http://identifiers.org/snomedct/721978002
property_value: exactMatch Orphanet:86915
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome xsd:anyURI {source="GARD:0000284"}

[Term]
id: MONDO:0011167
name: type 1 diabetes mellitus 6
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21." [DOID:0110745, PMID:9215667]
subset: predisposition
synonym: "autoimmune thyroid disease, susceptibility to, 5" RELATED [OMIM:601941]
synonym: "diabetes mellitus, insulin-dependent, 6" RELATED [MONDO:Lexical, OMIM:601941]
synonym: "diabetes mellitus, insulin-dependent, 6; IDDM6" RELATED [OMIM:601941]
synonym: "IDDM6" EXACT [DOID:0110745, MONDO:Lexical, OMIM:601941]
synonym: "insulin-dependent diabetes mellitus 6" EXACT [DOID:0110745, OMIM:601941]
xref: DOID:0110745 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110745"}
xref: MESH:C566603 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601941 {source="DOID:0110745", source="MONDO:equivalentTo"}
xref: UMLS:C1866041 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601941"}
is_a: MONDO:0005147 {source="DC-OMIM:601941", source="DOID:0110745", source="MESH:C566603", source="MONDOLEX:0011167"} ! type 1 diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748621
property_value: exactMatch DOID:0110745
property_value: exactMatch http://identifiers.org/mesh/C566603
property_value: exactMatch http://identifiers.org/omim/601941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866041

[Term]
id: MONDO:0011168
name: type 1 diabetes mellitus 10
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 10" RELATED [MONDO:Lexical, OMIM:601942]
synonym: "diabetes mellitus, insulin-dependent, 10; IDDM10" RELATED [OMIM:601942]
synonym: "diabetes mellitus, insulin-dependent, type 10" EXACT [MONDORULE:2, OMIM:601942]
synonym: "IDDM10" EXACT [DOID:0110749, MONDO:Lexical, OMIM:601942]
synonym: "IL2RA type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "insulin-dependent diabetes mellitus 10" EXACT [DOID:0110749, OMIM:601942]
synonym: "type 1 diabetes mellitus caused by mutation in IL2RA" EXACT [MONDO:design_pattern]
xref: DOID:0110749 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110749"}
xref: MESH:C566602 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601942 {source="DOID:0110749", source="MONDO:equivalentTo"}
xref: UMLS:C1866040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601942"}
is_a: MONDO:0005147 {source="DC-OMIM:601942", source="DOID:0110749", source="MESH:C566602", source="MONDO:Redundant", source="MONDOLEX:0011168"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110749
property_value: exactMatch http://identifiers.org/mesh/C566602
property_value: exactMatch http://identifiers.org/omim/601942
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866040

[Term]
id: MONDO:0011169
name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
def: "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." [Orphanet:281201]
subset: ordo_disease {source="Orphanet:281201"}
synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [OMIM:601952]
synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK" RELATED [OMIM:601952]
synonym: "KLICK" RELATED [OMIM:601952]
synonym: "KLICK syndrome" EXACT [Orphanet:281201]
synonym: "Klick syndrome" RELATED [OMIM:601952]
xref: ICD10:Q82.8 {source="ORDO:281201/attributed", source="ORDO:281201/ntbt", source="Orphanet:281201"}
xref: MESH:C566600 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601952 {source="MONDO:equivalentTo", source="ORDO:281201/e", source="Orphanet:281201"}
xref: Orphanet:281201 {source="MONDO:equivalentTo", source="OMIM:601952"}
xref: SCTID:763775000 {source="MONDO:equivalentTo"}
xref: UMLS:C1866029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601952", source="MEDGEN:kboom-pr92-c96", source="Orphanet:281201"}
is_a: MONDO:0017262 {source="Orphanet:281201"} ! inherited non-syndromic ichthyosis
is_a: MONDO:0017670 {source="Orphanet:281201"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma
is_a: MONDO:0020093 ! autosomal dominant isolated diffuse palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/mesh/C566600
property_value: exactMatch http://identifiers.org/omim/601952
property_value: exactMatch http://identifiers.org/snomedct/763775000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866029
property_value: exactMatch Orphanet:281201

[Term]
id: MONDO:0011170
name: autosomal recessive limb-girdle muscular dystrophy type 2G
def: "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." [Orphanet:34514]
subset: ordo_disease {source="Orphanet:34514"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" EXACT [MONDO:design_pattern]
synonym: "LGMD2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954, Orphanet:34514]
synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [DOID:0110281, Orphanet:34514]
synonym: "limb-girdle muscular dystrophy, type 2G" RELATED [GARD:0010471]
synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954]
synonym: "muscular dystrophy, limb-girdle, type 2G; LGMD2G" RELATED [OMIM:601954]
synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern]
xref: DOID:0110281 {source="MONDO:equivalentTo"}
xref: GARD:0010471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:34514", source="ORDO:34514/inclusion", source="DOID:0110281", source="ORDO:34514/ntbt"}
xref: MESH:C566599 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601954 {source="ORDO:34514/e", source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281"}
xref: Orphanet:34514 {source="MONDO:equivalentTo", source="DOID:0110281", source="OMIM:601954"}
xref: SCTID:720522001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0015152 {source="DOID:0110281", source="MONDO:Redundant", source="MONDOLEX:0011170", source="OMIM:601954", source="Orphanet:34514"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016192 {source="Orphanet:34514"} ! qualitative or quantitative defects of telethonin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866008
property_value: exactMatch DOID:0110281
property_value: exactMatch http://identifiers.org/mesh/C566599
property_value: exactMatch http://identifiers.org/omim/601954
property_value: exactMatch http://identifiers.org/snomedct/720522001
property_value: exactMatch Orphanet:34514

[Term]
id: MONDO:0011171
name: odonto-tricho-ungual-digito-palmar syndrome
def: "Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." [Orphanet:69082]
subset: ordo_malformation_syndrome {source="Orphanet:69082"}
synonym: "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" EXACT [Orphanet:69082]
synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957]
synonym: "OTUDP syndrome" EXACT [Orphanet:69082]
synonym: "Otudp syndrome" RELATED [OMIM:601957]
xref: MESH:C566598 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601957 {source="ORDO:69082/e", source="Orphanet:69082", source="MONDO:equivalentTo"}
xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"}
xref: SCTID:722063009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1865998 {source="Orphanet:69082", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601957"}
is_a: MONDO:0015336 {source="Orphanet:69082"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C566598", source="Orphanet:69082", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C566598
property_value: exactMatch http://identifiers.org/omim/601957
property_value: exactMatch http://identifiers.org/snomedct/722063009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865998
property_value: exactMatch Orphanet:69082

[Term]
id: MONDO:0011172
name: otofacioosseous-gonadal syndrome
synonym: "otofacioosseous-gonadal syndrome" EXACT [OMIM:601976]
xref: MESH:C566597 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601976 {source="MONDO:equivalentTo"}
xref: UMLS:C1865988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601976"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566597
property_value: exactMatch http://identifiers.org/omim/601976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865988

[Term]
id: MONDO:0011173
name: thrombocythemia 2
def: "Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential thrombocythemia caused by mutation in MPL" EXACT [MONDO:design_pattern]
synonym: "MPL essential thrombocythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THCYT2" RELATED [MONDO:Lexical, OMIM:601977]
synonym: "thrombocythemia 2" EXACT [MONDO:Lexical, OMIM:601977]
synonym: "thrombocythemia 2; THCYT2" RELATED [OMIM:601977]
synonym: "thrombocythemia type 2" EXACT [MONDORULE:1, OMIM:601977]
xref: OMIM:601977 {source="MONDO:equivalentTo"}
xref: UMLS:C3275998 {source="MONDO:equivalentTo", source="OMIM:601977"}
is_a: MONDO:0002249 {source="DC-OMIM:601977"} ! thrombocytosis disease
is_a: MONDO:0005029 {source="MONDO:Redundant"} ! essential thrombocythemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865987
property_value: exactMatch http://identifiers.org/omim/601977
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3275998

[Term]
id: MONDO:0011174
name: hyperzincemia with functional zinc depletion
synonym: "hyperzincemia with functional zinc depletion" EXACT [OMIM:601979]
xref: MESH:C566595 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:601979 {source="MONDO:equivalentTo"}
xref: UMLS:C1865986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601979"}
is_a: MONDO:0003847 {source="MESH:C566595/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566595
property_value: exactMatch http://identifiers.org/omim/601979
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865986

[Term]
id: MONDO:0011175
name: FRDA2
synonym: "FRDA2" EXACT [MONDO:Lexical, OMIM:601992]
synonym: "Friedreich ataxia 2" RELATED [MONDO:Lexical, OMIM:601992]
synonym: "Friedreich ataxia 2; FRDA2" RELATED [OMIM:601992]
xref: MESH:C566594 {source="MONDO:equivalentTo"}
xref: OMIM:601992 {source="MONDO:equivalentTo"}
xref: UMLS:C1865981 {source="OMIM:601992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009245 {source="MESH:C566594", source="ORDO:95/btnt"} ! Friedreich ataxia
property_value: exactMatch http://identifiers.org/mesh/C566594
property_value: exactMatch http://identifiers.org/omim/601992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865981

[Term]
id: MONDO:0011176
name: intestinal hypomagnesemia 1
def: "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." [Orphanet:30924]
subset: ordo_disease {source="Orphanet:30924"}
synonym: "familial primary hypomagnesemia caused by mutation in TRPM6" EXACT []
synonym: "Homg" RELATED [OMIM:602014]
synonym: "HOMG1" EXACT [DOID:0060883, MONDO:Lexical, OMIM:602014, Orphanet:30924]
synonym: "HSH" EXACT [Orphanet:30924]
synonym: "hypomagnesemia 1, intestinal" RELATED [MONDO:Lexical, OMIM:602014]
synonym: "hypomagnesemia 1, intestinal; HOMG1" RELATED [OMIM:602014]
synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [DOID:0060883, Orphanet:30924]
synonym: "hypomagnesemia intestinal type 1" EXACT [DOID:0060883, Orphanet:30924]
synonym: "hypomagnesemia with secondary hypocalcemia" RELATED [OMIM:602014]
synonym: "hypomagnesemia, intestinal, with secondary hypocalcemia" RELATED [OMIM:602014]
synonym: "hypomagnesemic tetany" EXACT [DOID:0060883, OMIM:602014]
synonym: "intestinal hypomagnesemia type 1" EXACT [DOID:0060883, MONDORULE:1]
synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924]
synonym: "PHSH" EXACT [Orphanet:30924]
synonym: "primary hypomagnesemia caused by mutation in TRPM6" EXACT [MONDO:design_pattern]
synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883]
synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060883 {source="MONDO:equivalentTo"}
xref: GARD:0013072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E83.4 {source="DOID:0060883", source="ORDO:30924/attributed", source="ORDO:30924/ntbt", source="Orphanet:30924"}
xref: MESH:C566593 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602014 {source="DOID:0060883", source="MONDO:equivalentTo", source="ORDO:30924/e", source="Orphanet:30924"}
xref: Orphanet:30924 {source="OMIM:602014", source="DOID:0060883", source="MONDO:equivalentTo"}
xref: SCTID:190856003 {source="MONDO:kboom-pr-0.91/0.75/0.91", source="MONDO:equivalentTo"}
xref: UMLS:C1865974 {source="OMIM:602014", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:30924"}
is_a: MONDO:0017626 {source="Orphanet:30924"} ! familial primary hypomagnesemia with normocalcuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0269941
property_value: exactMatch DOID:0060883
property_value: exactMatch http://identifiers.org/mesh/C566593
property_value: exactMatch http://identifiers.org/omim/602014
property_value: exactMatch http://identifiers.org/snomedct/190856003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865974
property_value: exactMatch Orphanet:30924

[Term]
id: MONDO:0011177
name: ectodermal dysplasia 4, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "ECTD4" RELATED [MONDO:Lexical, OMIM:602032]
synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [MONDO:Lexical, OMIM:602032]
synonym: "ectodermal dysplasia 4, hair/nail type; ECTD4" RELATED [OMIM:602032]
synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [OMIM:602032]
synonym: "KRT85 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pili torti onychodysplasia" RELATED [GARD:0004364]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT85" EXACT [MONDO:design_pattern]
synonym: "twisted hair with nail dysplasias" RELATED [GARD:0004364]
xref: GARD:0004364 {source="MONDO:equivalentTo"}
xref: MESH:C566592 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602032 {source="MONDO:equivalentTo", source="GARD:0004364"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865951
property_value: exactMatch http://identifiers.org/mesh/C566592
property_value: exactMatch http://identifiers.org/omim/602032

[Term]
id: MONDO:0011178
name: infantile convulsions and choreoathetosis
def: "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." [Orphanet:31709]
subset: ordo_disease {source="Orphanet:31709"}
synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical, OMIM:602066]
synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis; ICCA" RELATED [OMIM:602066]
synonym: "convulsions, infantile, with paroxysmal choreoathetosis, familial" RELATED [GARD:0008553]
synonym: "ICCA" RELATED [MONDO:Lexical, OMIM:602066]
synonym: "ICCA syndrome" EXACT [Orphanet:31709]
synonym: "Icca syndrome" RELATED [OMIM:602066]
synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATED [OMIM:602066]
synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Orphanet:31709]
synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066]
synonym: "PKD/IC" EXACT [NCIT:C126650]
xref: GARD:0008553 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.4 {source="ORDO:31709/attributed", source="ORDO:31709/ntbt", source="Orphanet:31709"}
xref: MESH:C535522 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126650 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.21"}
xref: OMIM:602066 {source="MONDO:equivalentTo", source="ORDO:31709/e", source="Orphanet:31709"}
xref: Orphanet:31709 {source="MONDO:equivalentTo", source="OMIM:602066"}
xref: SCTID:715534008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1865926 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="NCIT:C126650", source="MONDO:equivalentTo", source="OMIM:602066", source="Orphanet:31709"}
is_a: MONDO:0002254 {source="MONDOLEX:0011178", source="NCIT:C126650"} ! syndromic disease
is_a: MONDO:0015427 {source="Orphanet:31709", source="linkedlifedata", source="linkedlifedata/inferred"} ! paroxysmal dyskinesia
is_a: MONDO:0015642 {source="Orphanet:31709"} ! benign partial infantile seizures
property_value: exactMatch http://identifiers.org/mesh/C535522
property_value: exactMatch http://identifiers.org/omim/602066
property_value: exactMatch http://identifiers.org/snomedct/715534008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865926
property_value: exactMatch NCIT:C126650
property_value: exactMatch Orphanet:31709

[Term]
id: MONDO:0011179
name: leishmaniasis, tegumentary, susceptibility to
subset: predisposition
synonym: "leishmaniasis, tegumentary, susceptibility to" EXACT [OMIM:602068]
xref: OMIM:602068 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748501
property_value: exactMatch http://identifiers.org/omim/602068

[Term]
id: MONDO:0011180
name: broad terminal phalanges, familial
synonym: "broad terminal phalanges, familial" EXACT [OMIM:602071]
xref: MESH:C566588 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602071 {source="MONDO:equivalentTo"}
xref: UMLS:C1865923 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602071"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566588
property_value: exactMatch http://identifiers.org/omim/602071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865923

[Term]
id: MONDO:0011181
name: fibrosis of extraocular muscles, congenital, 2
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CFEOM2" RELATED [MONDO:Lexical, OMIM:602078]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A" EXACT [MONDO:design_pattern]
synonym: "Feom2 locus" RELATED [OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, 2" EXACT [MONDO:Lexical, OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, 2; CFEOM2" RELATED [OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELATED [OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1, OMIM:602078]
synonym: "PHOX2A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566587 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602078 {source="MONDO:equivalentTo"}
xref: UMLS:C1865915 {source="OMIM:602078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:602078", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles
property_value: exactMatch http://identifiers.org/mesh/C566587
property_value: exactMatch http://identifiers.org/omim/602078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865915

[Term]
id: MONDO:0011182
name: trimethylaminuria (disease)
synonym: "fish malodor syndrome" RELATED [GARD:0006447]
synonym: "fish odor syndrome" RELATED [GARD:0006447]
synonym: "fish-odor syndrome" RELATED [OMIM:602079]
synonym: "stale fish syndrome" RELATED [GARD:0006447]
synonym: "TMAU" RELATED [MONDO:Lexical, OMIM:602079]
synonym: "TMAuria" RELATED [GARD:0006447]
synonym: "trimethylaminuria" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:602079]
synonym: "trimethylaminuria; TMAU" RELATED [OMIM:602079]
xref: GARD:0006447 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0003614 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C536561 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602079 {source="MONDO:equivalentTo"}
xref: SCTID:237959005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0342739 {source="OMIM:602079", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C536561/inferred"} ! Mendelian disease
property_value: closeMatch Orphanet:35056
property_value: exactMatch http://identifiers.org/mesh/C536561
property_value: exactMatch http://identifiers.org/omim/602079
property_value: exactMatch http://identifiers.org/snomedct/237959005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342739

[Term]
id: MONDO:0011183
name: Paget disease of bone 2, early-onset
synonym: "Paget disease of bone 2, early-onset" EXACT [MONDO:Lexical, OMIM:602080]
synonym: "Paget disease of bone 2, early-onset; PDB2" RELATED [OMIM:602080]
synonym: "PDB2" RELATED [MONDO:Lexical, OMIM:602080]
xref: OMIM:602080 {source="MONDO:equivalentTo"}
xref: UMLS:C4085251 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005382 {source="DC-OMIM:602080", source="OMIM:602080"} ! bone Paget disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4016837
property_value: closeMatch Orphanet:280110
property_value: exactMatch http://identifiers.org/omim/602080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085251

[Term]
id: MONDO:0011184
name: childhood apraxia of speech
subset: ordo_disease {source="Orphanet:209908"}
synonym: "articulatory apraxia" RELATED [GARD:0012889]
synonym: "CAS" EXACT [Orphanet:209908]
synonym: "childhood apraxia of speech" EXACT [OMIM:602081]
synonym: "das" RELATED [GARD:0012889]
synonym: "developmental apraxia of speech" RELATED [GARD:0012889]
synonym: "developmental verbal apraxia" RELATED [GARD:0012889]
synonym: "developmental verbal dyspraxia" EXACT [OMIM:602081, Orphanet:209908]
synonym: "SPCH1" RELATED [MONDO:Lexical, OMIM:602081]
synonym: "speech and language disorder with orofacial dyspraxia" EXACT [OMIM:602081, Orphanet:209908]
synonym: "speech-language disorder 1" RELATED [MONDO:Lexical, OMIM:602081]
synonym: "speech-language disorder 1; SPCH1" RELATED [OMIM:602081]
synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orphanet:209908]
synonym: "speech-language disorder-1" RELATED [GARD:0012889]
xref: GARD:0012889 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:315.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:602081 {source="MONDO:equivalentTo", source="ORDO:209908/e", source="Orphanet:209908"}
xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"}
xref: SCTID:229703009 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="MONDO:equivalentTo"}
is_a: MONDO:0016226 {source="Orphanet:209908"} ! specific language disorder
is_a: MONDO:0019117 {source="Orphanet:209908"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750927
property_value: exactMatch http://identifiers.org/omim/602081
property_value: exactMatch http://identifiers.org/snomedct/229703009
property_value: exactMatch Orphanet:209908

[Term]
id: MONDO:0011185
name: Thiel-Behnke corneal dystrophy
def: "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." [Orphanet:98960]
subset: gard_rare
subset: ordo_disease {source="Orphanet:98960"}
synonym: "anterior limiting membrane dystrophy type 2" EXACT [Orphanet:98960]
synonym: "anterior limiting membrane dystrophy type II" EXACT [DOID:0060455, Orphanet:98960]
synonym: "CDB2" RELATED [GARD:0009275]
synonym: "CDTB" RELATED [GARD:0009275, MONDO:Lexical, OMIM:602082]
synonym: "corneal dystrophy honeycomb shaped" RELATED [GARD:0009275]
synonym: "corneal dystrophy honeycomb-shaped" EXACT [DOID:0060455]
synonym: "corneal dystrophy of Bowman layer type 2" EXACT [Orphanet:98960]
synonym: "corneal dystrophy of Bowman layer type II" EXACT [DOID:0060455, Orphanet:98960]
synonym: "corneal dystrophy of Bowman Layer, type 2" RELATED [OMIM:602082]
synonym: "corneal dystrophy of the Bowman layer type 2" RELATED [GARD:0009275]
synonym: "corneal dystrophy Thiel Behnke type" RELATED [GARD:0009275]
synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [OMIM:602082]
synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical, OMIM:602082]
synonym: "corneal dystrophy, Thiel-Behnke type; CDTB" RELATED [OMIM:602082]
synonym: "curly fiber corneal dystrophy" EXACT [Orphanet:98960]
synonym: "honeycomb corneal dystrophy" EXACT [Orphanet:98960]
synonym: "TBCD" EXACT [DOID:0060455, GARD:0009275, Orphanet:98960]
synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275]
synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082]
synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960]
xref: DOID:0060455 {source="MONDO:equivalentTo"}
xref: GARD:0009275 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:98960", source="ORDO:98960/attributed", source="ORDO:98960/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:98960/e"}
xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="GARD:0009275", source="ORDO:98960/e"}
xref: Orphanet:98960 {source="DOID:0060455", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275"}
xref: SCTID:417065002 {source="DOID:0060455", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1562894 {source="Orphanet:98960", source="DOID:0060455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275", source="ORDO:98960/e"}
is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy
property_value: exactMatch DOID:0060455
property_value: exactMatch http://identifiers.org/mesh/C535942
property_value: exactMatch http://identifiers.org/omim/602082
property_value: exactMatch http://identifiers.org/snomedct/417065002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562894
property_value: exactMatch Orphanet:98960
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type xsd:anyURI {source="GARD:0009275"}

[Term]
id: MONDO:0011186
name: Usher syndrome type 1F
def: "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." [OMIM:602083]
subset: gard_rare {source="GARD:0010043"}
synonym: "USH1F" EXACT [DOID:0110832, MONDO:Lexical, OMIM:602083]
synonym: "Usher syndrome type IF" EXACT [DOID:0110832]
synonym: "Usher syndrome, type 1F" RELATED [GARD:0010043]
synonym: "USHER syndrome, type IF" RELATED [MONDO:Lexical, OMIM:602083]
synonym: "USHER syndrome, type IF; USH1F" RELATED [OMIM:602083]
xref: DOID:0110832 {source="MONDO:equivalentTo"}
xref: GARD:0010043 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110832", source="MONDO:relatedTo"}
xref: OMIM:602083 {source="DOID:0110832", source="MONDO:equivalentTo"}
xref: UMLS:C1865885 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602083"}
is_a: MONDO:0010168 {source="DOID:0110832", source="MONDOLEX:0011186"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110832
property_value: exactMatch http://identifiers.org/omim/602083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865885
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f xsd:anyURI {source="GARD:0010043"}

[Term]
id: MONDO:0011187
name: polydactyly, postaxial, type A2
synonym: "PAPA2" RELATED [MONDO:Lexical, OMIM:602085]
synonym: "polydactyly, postaxial, type A2" EXACT [MONDO:Lexical, OMIM:602085]
synonym: "polydactyly, postaxial, type A2; PAPA2" RELATED [OMIM:602085]
synonym: "postaxial polydactyly, type A2" RELATED [OMIM:602085]
xref: MESH:C566585 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602085 {source="MONDO:equivalentTo"}
xref: UMLS:C1865883 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602085"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/mesh/C566585
property_value: exactMatch http://identifiers.org/omim/602085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865883

[Term]
id: MONDO:0011188
name: arrhythmogenic right ventricular dysplasia 3
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." [DOID:0110072, PMID:8824801]
synonym: "arrhythmogenic right ventricular cardiomyopathy 3" EXACT [DOID:0110072, OMIM:602086]
synonym: "arrhythmogenic right ventricular dysplasia type 3" EXACT [DOID:0110072, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 3" RELATED [MONDO:Lexical, OMIM:602086]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 3; ARVD3" RELATED [OMIM:602086]
synonym: "ARVC3" EXACT [DOID:0110072]
synonym: "ARVD3" EXACT [DOID:0110072, MONDO:Lexical, OMIM:602086]
synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [DOID:0110072]
xref: DOID:0110072 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110072"}
xref: MESH:C566584 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602086 {source="MONDO:equivalentTo", source="DOID:0110072"}
xref: UMLS:C1865882 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602086"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110072
property_value: exactMatch http://identifiers.org/mesh/C566584
property_value: exactMatch http://identifiers.org/omim/602086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865882

[Term]
id: MONDO:0011189
name: arrhythmogenic right ventricular dysplasia 4
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." [DOID:0110073, PMID:9344647]
synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [DOID:0110073, OMIM:602087]
synonym: "arrhythmogenic right ventricular dysplasia type 4" EXACT [DOID:0110073, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 4" RELATED [MONDO:Lexical, OMIM:602087]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 4; ARVD4" RELATED [OMIM:602087]
synonym: "ARVC4" EXACT [DOID:0110073]
synonym: "ARVD4" EXACT [DOID:0110073, MONDO:Lexical, OMIM:602087]
synonym: "fanilial arrhythmogenic right ventricular dysplasia 4" EXACT [DOID:0110073]
xref: DOID:0110073 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110073"}
xref: MESH:C566583 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602087 {source="DOID:0110073", source="MONDO:equivalentTo"}
xref: UMLS:C1865881 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602087"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110073
property_value: exactMatch http://identifiers.org/mesh/C566583
property_value: exactMatch http://identifiers.org/omim/602087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865881

[Term]
id: MONDO:0011190
name: nephronophthisis 2
def: "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "infantile nephronophthisis 2" EXACT [DOID:0111113]
synonym: "INVS nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in INVS" EXACT []
synonym: "nephronophthisis 2" EXACT [MONDO:Lexical, OMIM:602088]
synonym: "nephronophthisis 2; NPHP2" RELATED [OMIM:602088]
synonym: "nephronophthisis type 2" EXACT [DOID:0111113, MONDORULE:1, OMIM:602088]
synonym: "NPH2" EXACT [DOID:0111113]
synonym: "Nph2" RELATED [OMIM:602088]
synonym: "NPHP2" EXACT [DOID:0111113, MONDO:Lexical, OMIM:602088]
xref: DOID:0111113 {source="MONDO:equivalentTo"}
xref: MESH:C566582 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602088 {source="MONDO:equivalentTo", source="DOID:0111113"}
xref: UMLS:C1865872 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602088"}
is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111113
property_value: exactMatch http://identifiers.org/mesh/C566582
property_value: exactMatch http://identifiers.org/omim/602088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865872

[Term]
id: MONDO:0011191
name: capillary infantile hemangioma
comment: Editor note: consider merging or making class explicitly for inherited forms. Note also Orphanet equiv is obsolete
synonym: "HCI" RELATED [OMIM:602089]
synonym: "hemangioma, capillary infantile" RELATED [OMIM:602089]
synonym: "hemangioma, hereditary capillary" NARROW [OMIM:602089]
xref: MESH:C535860 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602089 {source="MONDO:equivalentTo"}
xref: Orphanet:91415 {source="OMIM:602089", source="MONDO:equivalentTo", source="MONDO:Obsolete"}
xref: UMLS:C1865871 {source="OMIM:602089", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="MESH:C535860/inferred", source="MONDO:cjm"} ! hemangioma
property_value: exactMatch http://identifiers.org/mesh/C535860
property_value: exactMatch http://identifiers.org/omim/602089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865871
property_value: exactMatch Orphanet:91415

[Term]
id: MONDO:0011192
name: autosomal recessive nonsyndromic deafness 18A
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 18A" EXACT [DOID:0110473]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in USH1C" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 18A" EXACT [DOID:0110473, MONDORULE:4]
synonym: "deafness, autosomal recessive 18" RELATED [OMIM:602092]
synonym: "deafness, autosomal recessive 18A" RELATED [MONDO:Lexical, OMIM:602092]
synonym: "deafness, autosomal recessive 18A; DFNB18A" RELATED [OMIM:602092]
synonym: "deafness, autosomal recessive type 18A" EXACT [MONDORULE:4, OMIM:602092]
synonym: "DFNB18A" EXACT [DOID:0110473, MONDO:Lexical, OMIM:602092]
synonym: "USH1C autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110473 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110473"}
xref: MESH:C566580 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602092 {source="MONDO:equivalentTo", source="DOID:0110473"}
xref: UMLS:C1865870 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602092"}
is_a: MONDO:0019588 {source="DC-OMIM:602092", source="DOID:0110473", source="MONDO:Redundant", source="OMIM:602092"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110473
property_value: exactMatch http://identifiers.org/mesh/C566580
property_value: exactMatch http://identifiers.org/omim/602092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865870

[Term]
id: MONDO:0011193
name: cone dystrophy 3
def: "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COD3" RELATED [MONDO:Lexical, OMIM:602093]
synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093]
synonym: "cone dystrophy 3; COD3" RELATED [OMIM:602093]
synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern]
synonym: "cone dystrophy type 3" EXACT [MONDORULE:1, OMIM:602093]
synonym: "cone-rod dystrophy 14" RELATED [OMIM:602093]
synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal cone dystrophy" RELATED [OMIM:602093]
xref: DOID:0080314 {source="MONDO:equivalentTo"}
xref: OMIM:602093 {source="MONDO:equivalentTo", source="DOID:0080314"}
xref: UMLS:C1865869 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0080314", source="OMIM:602093"}
is_a: MONDO:0000455 {source="DC-OMIM:602093", source="MONDO:Redundant"} ! cone dystrophy
is_a: MONDO:0015993 {source="DOID:0080314"} ! cone-rod dystrophy
property_value: closeMatch http://identifiers.org/mesh/C566579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838190
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677463
property_value: exactMatch DOID:0080314
property_value: exactMatch http://identifiers.org/omim/602093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865869

[Term]
id: MONDO:0011194
name: Alzheimer disease 5
synonym: "AD5" EXACT [DOID:0110037]
synonym: "Ad5" RELATED [OMIM:602096]
synonym: "Alzheimer disease 5" EXACT [DOID:0110037, OMIM:602096]
synonym: "Alzheimer disease type 5" EXACT [MONDORULE:1, OMIM:602096]
synonym: "Alzheimer disease, familial 5" EXACT [DOID:0110037]
synonym: "Alzheimer disease, familial, 5" RELATED [OMIM:602096]
synonym: "Alzheimer's disease 5" RELATED [DOID:0110037]
synonym: "Alzheimer's disease type 5" EXACT [DOID:0110037, MONDORULE:1]
xref: DOID:0110037 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110037"}
xref: MESH:C566578 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602096 {source="MONDO:equivalentTo"}
xref: UMLS:C1865868 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602096"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110037
property_value: exactMatch http://identifiers.org/mesh/C566578
property_value: exactMatch http://identifiers.org/omim/602096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865868

[Term]
id: MONDO:0011195
name: Usher syndrome type 1E
def: "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." [OMIM:602097]
subset: gard_rare {source="GARD:0005439"}
synonym: "USH1E" EXACT [DOID:0110833, MONDO:Lexical, OMIM:602097]
synonym: "Usher syndrome type IE" EXACT [DOID:0110833]
synonym: "Usher syndrome, type 1E" RELATED [GARD:0005439]
synonym: "USHER syndrome, type IE" RELATED [MONDO:Lexical, OMIM:602097]
synonym: "USHER syndrome, type IE; USH1E" RELATED [OMIM:602097]
xref: DOID:0110833 {source="MONDO:equivalentTo"}
xref: GARD:0005439 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110833", source="MONDO:relatedTo"}
xref: OMIM:602097 {source="DOID:0110833", source="MONDO:equivalentTo"}
xref: UMLS:C1865865 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602097"}
is_a: MONDO:0010168 {source="DOID:0110833", source="MONDOLEX:0011195"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110833
property_value: exactMatch http://identifiers.org/omim/602097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865865
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e xsd:anyURI {source="GARD:0005439"}

[Term]
id: MONDO:0011196
name: amyotrophic lateral sclerosis type 5
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010503"}
synonym: "ALS5" EXACT [DOID:0060197, MONDO:Lexical, OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197, OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical, OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5, juvenile; ALS5" RELATED [OMIM:602099]
synonym: "amyotrophic lateral sclerosis caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "SPG11 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060197 {source="MONDO:equivalentTo"}
xref: GARD:0010503 {source="MONDO:equivalentTo"}
xref: MESH:C566576 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602099 {source="DOID:0060197", source="MONDO:equivalentTo"}
xref: UMLS:C1865864 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602099"}
is_a: MONDO:0017593 {source="ORDO:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060197
property_value: exactMatch http://identifiers.org/mesh/C566576
property_value: exactMatch http://identifiers.org/omim/602099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865864
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5 xsd:anyURI {source="GARD:0010503"}

[Term]
id: MONDO:0011197
name: hereditary thermosensitive neuropathy
def: "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." [Orphanet:84093]
subset: ordo_disease {source="Orphanet:84093"}
synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107]
xref: ICD10:G60.0 {source="ORDO:84093/attributed", source="ORDO:84093/ntbt", source="Orphanet:84093"}
xref: MESH:C566575 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602107 {source="MONDO:equivalentTo", source="ORDO:84093/e", source="Orphanet:84093"}
xref: Orphanet:84093 {source="MONDO:equivalentTo", source="OMIM:602107"}
xref: SCTID:715645004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1865856 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602107", source="Orphanet:84093"}
is_a: MONDO:0015359 {source="Orphanet:84093"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/mesh/C566575
property_value: exactMatch http://identifiers.org/omim/602107
property_value: exactMatch http://identifiers.org/snomedct/715645004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865856
property_value: exactMatch Orphanet:84093

[Term]
id: MONDO:0011198
name: spondyloepimetaphyseal dysplasia, Missouri type
def: "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." [Orphanet:93356]
subset: gard_rare {source="GARD:0010618"}
subset: ordo_disease {source="Orphanet:93356"}
synonym: "metaphyseal anadysplasia 1" RELATED [OMIM:602111]
synonym: "Missouri type of spondyloepimetaphyseal dysplasia" RELATED [GARD:0010618]
synonym: "SEMD Missouri type" RELATED [GARD:0010618]
synonym: "SEMD type 2" EXACT [Orphanet:93356]
synonym: "SEMD, Missouri type" EXACT [OMIM:602111, Orphanet:93356]
synonym: "spondyloepimetaphyseal dysplasia Missouri type" RELATED [GARD:0010618]
synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356]
synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111]
xref: DOID:0080030 {source="MONDO:equivalentTo"}
xref: GARD:0010618 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:93356", source="ORDO:93356/attributed", source="ORDO:93356/ntbt"}
xref: OMIM:602111 {source="DOID:0080030", source="ORDO:93356/e", source="MONDO:equivalentTo", source="Orphanet:93356"}
xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"}
xref: SCTID:719171005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.89"}
is_a: MONDO:0016761 {source="DC-OMIM:602111", source="DOID:0080030", source="Orphanet:93356", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865832
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748495
property_value: exactMatch DOID:0080030
property_value: exactMatch http://identifiers.org/omim/602111
property_value: exactMatch http://identifiers.org/snomedct/719171005
property_value: exactMatch Orphanet:93356
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type xsd:anyURI {source="GARD:0010618"}

[Term]
id: MONDO:0011199
name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease
synonym: "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" EXACT [OMIM:602114]
xref: MESH:C566573 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602114 {source="MONDO:equivalentTo"}
xref: UMLS:C1865831 {source="OMIM:602114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013433 {source="ORDO:171/btnt"} ! primary sclerosing cholangitis
property_value: exactMatch http://identifiers.org/mesh/C566573
property_value: exactMatch http://identifiers.org/omim/602114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865831

[Term]
id: MONDO:0011200
name: torsion dystonia 7
def: "A focal dystonia characterized by predomiantly cervical dystonia that has_material_basis_in variation in the chromosome region 18p." [DOID:0090040]
synonym: "cervical dystonia, primary" RELATED [OMIM:602124]
synonym: "dystonia 7, torsion" RELATED [MONDO:Lexical, OMIM:602124]
synonym: "dystonia 7, torsion; DYT7" RELATED [OMIM:602124]
synonym: "DYT7" RELATED [MONDO:Lexical, OMIM:602124]
synonym: "torsion dystonia type 7" EXACT [DOID:0090040, MONDORULE:1]
synonym: "torsion dystonia, focal adult-onset" RELATED [OMIM:602124]
xref: DOID:0090040 {source="MONDO:equivalentTo"}
xref: MESH:C566572 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602124 {source="DOID:0090040", source="MONDO:equivalentTo"}
xref: Orphanet:93963 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0000477 {source="DOID:0090040"} ! focal dystonia
is_a: MONDO:0044807 ! inherited dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865818
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865819
property_value: exactMatch DOID:0090040
property_value: exactMatch http://identifiers.org/mesh/C566572
property_value: exactMatch http://identifiers.org/omim/602124
property_value: exactMatch Orphanet:93963

[Term]
id: MONDO:0011201
name: ETM2
synonym: "ETM2" EXACT [MONDO:Lexical, OMIM:602134]
synonym: "tremor hereditary essential, 2" RELATED [GARD:0009500]
synonym: "tremor, hereditary essential, 2" RELATED [MONDO:Lexical, OMIM:602134]
synonym: "tremor, hereditary essential, 2; ETM2" RELATED [OMIM:602134]
xref: GARD:0009500 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536546 {source="MONDO:equivalentTo"}
xref: OMIM:602134 {source="MONDO:equivalentTo"}
is_a: MONDO:0003233 {source="DC-OMIM:602134", source="OMIM:602134"} ! essential tremor
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865810
property_value: closeMatch Orphanet:862
property_value: exactMatch http://identifiers.org/mesh/C536546
property_value: exactMatch http://identifiers.org/omim/602134

[Term]
id: MONDO:0011202
name: RHYNS syndrome
def: "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." [Orphanet:140976]
subset: ordo_disease {source="Orphanet:140976"}
synonym: "retinitis pigmentosa syndrome" RELATED [OMIM:602152]
synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [OMIM:602152]
synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976]
synonym: "RHYNS syndrome" EXACT [OMIM:602152]
xref: GARD:0009681 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C537612 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:140976", source="ORDO:140976/e"}
xref: OMIM:602152 {source="MONDO:equivalentTo", source="Orphanet:140976", source="ORDO:140976/e"}
xref: Orphanet:140976 {source="MONDO:equivalentTo", source="OMIM:602152"}
xref: SCTID:723999009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865794 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602152", source="Orphanet:140976", source="ORDO:140976/e"}
is_a: MONDO:0015962 {source="Orphanet:140976"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:140976"} ! rare renal tubular disease
is_a: MONDO:0020240 {source="Orphanet:140976"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C537612
property_value: exactMatch http://identifiers.org/omim/602152
property_value: exactMatch http://identifiers.org/snomedct/723999009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865794
property_value: exactMatch Orphanet:140976

[Term]
id: MONDO:0011203
name: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
subset: gard_rare {source="GARD:0010090"}
synonym: "campomelic dysplasia, mild" RELATED [OMIM:602196]
synonym: "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" EXACT [OMIM:602196]
synonym: "skeletal dysplasia related to campomelic dysplasia" RELATED [OMIM:602196]
xref: GARD:0010090 {source="MONDO:equivalentTo"}
xref: MESH:C535775 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602196 {source="MONDO:equivalentTo"}
xref: UMLS:C1865783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602196"}
is_a: MONDO:0002254 ! syndromic disease
relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C535775", source="ORDO:140/btnt"} ! campomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535775
property_value: exactMatch http://identifiers.org/omim/602196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865783
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies xsd:anyURI {source="GARD:0010090"}

[Term]
id: MONDO:0011204
name: cerebellar degeneration-related autoantigen 3
synonym: "Cdr3" RELATED [OMIM:602197]
synonym: "cerebellar degeneration-related autoantigen 3" EXACT [OMIM:602197]
synonym: "cerebellar Degeneration-related autoantigen type 3" EXACT [MONDORULE:1, OMIM:602197]
xref: OMIM:602197 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865782
property_value: exactMatch http://identifiers.org/omim/602197

[Term]
id: MONDO:0011205
name: medium chain 3-ketoacyl-Coa thiolase deficiency
subset: gard_rare {source="GARD:0010329"}
synonym: "Mckat deficiency" RELATED [OMIM:602199]
synonym: "medium chain 3-ketoacyl-Coa thiolase deficiency" EXACT [OMIM:602199]
synonym: "medium-chain 3-ketoacyl-coa thiolase deficiency" RELATED [GARD:0010329]
xref: GARD:0010329 {source="MONDO:equivalentTo"}
xref: MESH:C566566 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602199 {source="MONDO:equivalentTo"}
xref: UMLS:C1865781 {source="OMIM:602199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566566/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566566
property_value: exactMatch http://identifiers.org/omim/602199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865781
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency xsd:anyURI {source="GARD:0010329"}

[Term]
id: MONDO:0011206
name: ventriculomegaly with defects of the radius and kidney
synonym: "ventriculomegaly with defects of the radius and kidney" EXACT [OMIM:602200]
xref: MESH:C566565 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602200 {source="MONDO:equivalentTo"}
xref: UMLS:C1865780 {source="OMIM:602200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566565
property_value: exactMatch http://identifiers.org/omim/602200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865780

[Term]
id: MONDO:0011207
name: xanthomatosis, susceptibility to
subset: predisposition
synonym: "xanthomatosis, susceptibility to" EXACT [OMIM:602247]
xref: OMIM:602247 {source="MONDO:equivalentTo"}
xref: UMLS:C1865704 {source="NCBI:mim2gene_medline", source="OMIM:602247", source="MONDO:equivalentTo"}
is_a: MONDO:0018328 {source="ORDO:391665/btnt"} ! homozygous familial hypercholesterolemia
property_value: exactMatch http://identifiers.org/omim/602247
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865704

[Term]
id: MONDO:0011208
name: malignant atrophic papulosis
def: "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." [Orphanet:679]
subset: ordo_disease {source="Orphanet:679"}
synonym: "atrophic papulosis, malignant" RELATED [GARD:0006249]
synonym: "Degos disease" EXACT [OMIM:602248, Orphanet:679]
synonym: "Degos syndrome" RELATED [GARD:0006249]
synonym: "Degos's malignant atrophic papulosis" RELATED [GARD:0006249]
synonym: "Kohlmeier-Degos disease" EXACT [GARD:0006249, Orphanet:679]
synonym: "Kohlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679]
synonym: "Köhlmeier-Degos disease" EXACT [Orphanet:679]
synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679]
synonym: "malignant atrophic papulosis" EXACT [OMIM:602248]
synonym: "papulosis atrophican maligna" EXACT [Orphanet:679]
synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248]
xref: GARD:0006249 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I77.8 {source="Orphanet:679", source="ORDO:679/ntbt", source="ORDO:679/index"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064281 {source="ORDO:679/e", source="Orphanet:679"}
xref: MESH:D054853 {source="ORDO:679/e", source="Orphanet:679", source="MONDO:equivalentTo"}
xref: NCIT:C84835 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:602248 {source="ORDO:679/e", source="Orphanet:679", source="MONDO:equivalentTo"}
xref: Orphanet:679 {source="OMIM:602248", source="MONDO:equivalentTo"}
xref: SCTID:400171002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0221011 {source="ORDO:679/e", source="OMIM:602248", source="NCBI:mim2gene_medline", source="NCIT:C84835", source="Orphanet:679", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:679"} ! systemic disease
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:679"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019293 {source="MESH:D054853", source="Orphanet:679"} ! skin vascular disease
is_a: MONDO:0024255 ! genetic skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015948"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10064281
property_value: exactMatch http://identifiers.org/mesh/D054853
property_value: exactMatch http://identifiers.org/omim/602248
property_value: exactMatch http://identifiers.org/snomedct/400171002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221011
property_value: exactMatch NCIT:C84835
property_value: exactMatch Orphanet:679

[Term]
id: MONDO:0011209
name: progeroid facial appearance with hand anomalies
synonym: "progeroid facial appearance with hand anomalies" EXACT [OMIM:602249]
xref: MESH:C566563 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602249 {source="MONDO:equivalentTo"}
xref: UMLS:C1865699 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602249"}
is_a: MONDO:0003847 {source="MESH:C566563/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566563
property_value: exactMatch http://identifiers.org/omim/602249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865699

[Term]
id: MONDO:0011210
name: mitochondrial intermembrane space protein Tim12, yeast, homolog of
synonym: "mitochondrial intermembrane space protein Tim12, yeast, homolog of" EXACT [OMIM:602252]
xref: OMIM:602252 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865698
property_value: exactMatch http://identifiers.org/omim/602252

[Term]
id: MONDO:0011211
name: axial spondylometaphyseal dysplasia
def: "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia]
subset: gard_rare {source="GARD:0008720"}
subset: ordo_disease {source="Orphanet:168549"}
synonym: "axial SmD" RELATED [OMIM:602271]
synonym: "SmD axial" RELATED [GARD:0008720]
synonym: "SmD, axial" RELATED [OMIM:602271]
synonym: "SMDAX" RELATED [OMIM:602271]
synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720]
synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271]
synonym: "spondylometaphyseal dysplasia, axial; SMDAX" RELATED [OMIM:602271]
xref: GARD:0008720 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:168549/attributed", source="ORDO:168549/ntbt", source="Orphanet:168549"}
xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e", source="MONDO:ontobio"}
xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e"}
xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"}
xref: UMLS:C1865695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e", source="OMIM:602271"}
is_a: MONDO:0016763 {source="DC-OMIM:602271", source="MONDOLEX:0011211", source="Orphanet:168549"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535795
property_value: exactMatch http://identifiers.org/omim/602271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865695
property_value: exactMatch Orphanet:168549
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia xsd:anyURI {source="GARD:0008720"}

[Term]
id: MONDO:0011212
name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth
synonym: "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" EXACT [OMIM:602340]
xref: MESH:C566560 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602340 {source="MONDO:equivalentTo"}
xref: UMLS:C1865645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602340"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566560
property_value: exactMatch http://identifiers.org/omim/602340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865645

[Term]
id: MONDO:0011213
name: Pierpont syndrome
def: "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." [Orphanet:487825]
subset: ordo_malformation_syndrome
synonym: "Pierpont syndrome" EXACT [OMIM:602342]
synonym: "PIERPONT syndrome; PRPTS" RELATED [OMIM:602342]
synonym: "plantar lipomatosis, unusual facies, and developmental delay" RELATED [OMIM:602342]
synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:487825]
synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [Orphanet:487825]
synonym: "PRPTS" RELATED [OMIM:602342]
xref: MESH:C566559 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602342 {source="MONDO:equivalentTo", source="Orphanet:487825"}
xref: Orphanet:487825 {source="MONDO:equivalentTo"}
xref: UMLS:C1865644 {source="OMIM:602342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487825", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:487825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019296 {source="Orphanet:487825"} ! subcutaneous tissue disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C566559
property_value: exactMatch http://identifiers.org/omim/602342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865644
property_value: exactMatch Orphanet:487825

[Term]
id: MONDO:0011214
name: progressive familial intrahepatic cholestasis type 3
def: "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." [Orphanet:79305]
subset: gard_rare {source="GARD:0001289"}
subset: ordo_clinical_subtype {source="Orphanet:79305"}
synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical, OMIM:602347]
synonym: "cholestasis, progressive familial intrahepatic, 3; PFIC3" RELATED [OMIM:602347]
synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1, OMIM:602347]
synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [OMIM:602347]
synonym: "Mdr3 deficiency" RELATED [OMIM:602347]
synonym: "PFIC3" EXACT [MONDO:Lexical, OMIM:602347, Orphanet:79305]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern]
synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289]
xref: DOID:0070223 {source="MONDO:equivalentTo"}
xref: GARD:0001289 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="Orphanet:79305", source="ORDO:79305/attributed", source="ORDO:79305/ntbt"}
xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79305/e"}
xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="ORDO:79305/e"}
xref: Orphanet:79305 {source="OMIM:602347", source="MONDO:equivalentTo"}
xref: UMLS:C1865643 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79305", source="OMIM:602347", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79305/e"}
is_a: MONDO:0015762 {source="MONDO:Redundant", source="MONDOLEX:0011214", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch DOID:0070223
property_value: exactMatch http://identifiers.org/mesh/C535935
property_value: exactMatch http://identifiers.org/omim/602347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865643
property_value: exactMatch Orphanet:79305
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 xsd:anyURI {source="GARD:0001289"}

[Term]
id: MONDO:0011215
name: osteocraniostenosis
def: "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." [Orphanet:2763]
subset: ordo_malformation_syndrome {source="Orphanet:2763"}
synonym: "GCLEB" RELATED [MONDO:Lexical, OMIM:602361]
synonym: "gracile bone dysplasia" EXACT [MONDO:Lexical, OMIM:602361, Orphanet:2763]
synonym: "gracile bone dysplasia; GCLEB" RELATED [OMIM:602361]
synonym: "Habrodysplasia" RELATED [OMIM:602361]
synonym: "Osteocraniosplenic syndrome" EXACT [OMIM:602361, Orphanet:2763]
synonym: "osteocraniostenosis" EXACT [OMIM:602361]
synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396]
synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361]
xref: GARD:0003396 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:relatedTo", source="Orphanet:2763", source="ORDO:2763/attributed", source="ORDO:2763/ntbt"}
xref: MESH:C537291 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602361 {source="ORDO:2763/e", source="Orphanet:2763", source="MONDO:equivalentTo"}
xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"}
xref: SCTID:722109008 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"}
xref: UMLS:C1865639 {source="MEDGEN:kboom-pr98-c99", source="ORDO:2763/e", source="NCBI:mim2gene_medline", source="Orphanet:2763", source="MONDO:equivalentTo", source="OMIM:602361"}
is_a: MONDO:0019699 {source="Orphanet:2763"} ! slender bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537291
property_value: exactMatch http://identifiers.org/omim/602361
property_value: exactMatch http://identifiers.org/snomedct/722109008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865639
property_value: exactMatch Orphanet:2763

[Term]
id: MONDO:0011216
name: hemochromatosis type 2A
def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hemochromatosis type 2 caused by mutation in HJV" EXACT [MONDO:design_pattern]
synonym: "hemochromatosis, juvenile" RELATED [OMIM:602390]
synonym: "hemochromatosis, type 2" RELATED [OMIM:602390]
synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical, OMIM:602390]
synonym: "hemochromatosis, type 2A; HFE2A" RELATED [OMIM:602390]
synonym: "HFE2A" EXACT [DOID:0111027, MONDO:Lexical, OMIM:602390]
synonym: "HJV hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111027 {source="MONDO:equivalentTo"}
xref: OMIM:602390 {source="MONDO:equivalentTo", source="DOID:0111027"}
is_a: MONDO:0019257 {source="DOID:0111027", source="MONDO:Redundant", source="MONDOLEX:0011216"} ! hemochromatosis type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268060
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865614
property_value: exactMatch DOID:0111027
property_value: exactMatch http://identifiers.org/omim/602390

[Term]
id: MONDO:0011217
name: desmosterolosis
def: "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." [Orphanet:35107]
subset: gard_rare {source="GARD:0010283"}
subset: ordo_disease {source="Orphanet:35107"}
synonym: "desmosterolosis" EXACT [OMIM:602398]
xref: GARD:0010283 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:35107", source="ORDO:35107/attributed", source="ORDO:35107/ntbt"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566555 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="ORDO:35107/e"}
xref: Orphanet:35107 {source="OMIM:602398", source="MONDO:equivalentTo"}
xref: SCTID:709490002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1865596 {source="OMIM:602398", source="Orphanet:35107", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019702 {source="Orphanet:35107"} ! neonatal osteosclerotic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0045017 ! cholesterol biosynthetic process disease
property_value: exactMatch http://identifiers.org/mesh/C566555
property_value: exactMatch http://identifiers.org/omim/602398
property_value: exactMatch http://identifiers.org/snomedct/709490002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865596
property_value: exactMatch Orphanet:35107
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis xsd:anyURI {source="GARD:0010283"}

[Term]
id: MONDO:0011218
name: autosomal recessive congenital ichthyosis 11
subset: ordo_disease {source="Orphanet:91132"}
synonym: "ARCI11" RELATED [MONDO:Lexical, OMIM:602400]
synonym: "ARIH" RELATED [GARD:0010116]
synonym: "autosomal recessive congenital ichthyosis type 11" EXACT [DOID:0060720, MONDORULE:2]
synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [DOID:0060720]
synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [DOID:0060720, OMIM:602400]
synonym: "ichthyosis with hypotrichosis, autosomal recessive" RELATED [OMIM:602400]
synonym: "ichthyosis, congenital, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:602400]
synonym: "ichthyosis, congenital, autosomal recessive 11; ARCI11" RELATED [OMIM:602400]
synonym: "ichthyosis, congenital, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:602400]
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720]
synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "IHS" EXACT [DOID:0060720, Orphanet:91132]
xref: DOID:0060720 {source="MONDO:equivalentTo"}
xref: GARD:0010116 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q80.8 {source="Orphanet:91132", source="DOID:0060720", source="ORDO:91132/attributed", source="ORDO:91132/ntbt"}
xref: MESH:C536273 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602400 {source="ORDO:91132/e", source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720"}
xref: Orphanet:91132 {source="OMIM:602400", source="MONDO:equivalentTo"}
xref: UMLS:C1835851 {source="OMIM:602400", source="Orphanet:91132", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017265 {source="DC-OMIM:602400", source="DOID:0060720", source="OMIM:602400"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017271 {source="Orphanet:91132"} ! autosomal ichthyosis syndrome with prominent hair abnormalities
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:91132"} ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865595
property_value: exactMatch DOID:0060720
property_value: exactMatch http://identifiers.org/mesh/C536273
property_value: exactMatch http://identifiers.org/omim/602400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835851
property_value: exactMatch Orphanet:91132

[Term]
id: MONDO:0011219
name: Fried's tooth and nail syndrome
subset: ordo_malformation_syndrome {source="Orphanet:99672"}
synonym: "ECTD8" RELATED [MONDO:Lexical, OMIM:602401]
synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401]
synonym: "ectodermal dysplasia 8, hair/tooth/nail type; ECTD8" RELATED [OMIM:602401]
xref: OMIM:602401 {source="MONDO:equivalentTo", source="ORDO:99672/e", source="Orphanet:99672"}
xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"}
xref: SCTID:239020008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406715 {source="MONDO:equivalentTo", source="ORDO:99672/e", source="Orphanet:99672"}
is_a: MONDO:0019287 {source="MONDOLEX:0011219", source="OMIM:602401", source="Orphanet:99672", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865594
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551424
property_value: exactMatch http://identifiers.org/omim/602401
property_value: exactMatch http://identifiers.org/snomedct/239020008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406715
property_value: exactMatch Orphanet:99672

[Term]
id: MONDO:0011220
name: PARK3
synonym: "autosomal dominant Parkinson disease" RELATED [GARD:0008578]
synonym: "PARK3" EXACT [MONDO:Lexical, OMIM:602404]
synonym: "Parkinson disease 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:602404]
synonym: "Parkinson disease 3, autosomal dominant Lewy body" RELATED [OMIM:602404]
synonym: "Parkinson disease 3, autosomal dominant; PARK3" RELATED [OMIM:602404]
synonym: "Parkinson disease type 3" RELATED [GARD:0008578]
xref: GARD:0008578 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566552 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602404 {source="MONDO:equivalentTo"}
xref: UMLS:C1865581 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602404"}
is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C566552
property_value: exactMatch http://identifiers.org/omim/602404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865581

[Term]
id: MONDO:0011221
name: Weyers ulnar ray/oligodactyly syndrome
subset: gard_rare {source="GARD:0010178"}
synonym: "Weyers ulnar ray/oligodactyly syndrome" EXACT [OMIM:602418]
xref: GARD:0010178 {source="MONDO:equivalentTo"}
xref: MESH:C536696 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602418 {source="MONDO:equivalentTo"}
xref: UMLS:C1865566 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602418"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536696
property_value: exactMatch http://identifiers.org/omim/602418
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865566
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome xsd:anyURI {source="GARD:0010178"}

[Term]
id: MONDO:0011222
name: GLC1D
synonym: "glaucoma 1, open angle, D" RELATED [MONDO:Lexical, OMIM:602429]
synonym: "glaucoma 1, open angle, D; GLC1D" RELATED [OMIM:602429]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:602429]
synonym: "GLC1D" EXACT [MONDO:Lexical, OMIM:602429]
xref: MESH:C566551 {source="MONDO:equivalentTo"}
xref: OMIM:602429 {source="MONDO:equivalentTo"}
xref: UMLS:C1865427 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602429"}
is_a: MONDO:0005338 {source="MESH:C566551"} ! open-angle glaucoma
is_a: MONDO:0020366 ! congenital glaucoma
property_value: exactMatch http://identifiers.org/mesh/C566551
property_value: exactMatch http://identifiers.org/omim/602429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865427

[Term]
id: MONDO:0011223
name: amyotrophic lateral sclerosis type 4
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010502"}
subset: ordo_disease {source="Orphanet:357043"}
synonym: "ALS 4" EXACT [DOID:0060196, OMIM:602433]
synonym: "ALS4" EXACT [MONDO:Lexical, OMIM:602433, Orphanet:357043]
synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433]
synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433]
synonym: "amyotrophic lateral sclerosis 4, juvenile; ALS4" RELATED [OMIM:602433]
synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern]
synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043]
synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433]
synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043]
synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433]
synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060196 {source="MONDO:equivalentTo"}
xref: GARD:0010502 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:357043/attributed", source="ORDO:357043/ntbt", source="Orphanet:357043", source="DOID:0060196"}
xref: MESH:C566550 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602433 {source="MONDO:equivalentTo", source="ORDO:357043/e", source="Orphanet:357043", source="DOID:0060196"}
xref: Orphanet:357043 {source="OMIM:602433", source="MONDO:equivalentTo", source="DOID:0060196"}
xref: UMLS:C1865409 {source="OMIM:602433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:357043"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060196
property_value: exactMatch http://identifiers.org/mesh/C566550
property_value: exactMatch http://identifiers.org/omim/602433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865409
property_value: exactMatch Orphanet:357043
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 xsd:anyURI {source="GARD:0010502"}

[Term]
id: MONDO:0011224
name: monomelic amyotrophy
def: "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." [Orphanet:65684]
subset: gard_rare {source="GARD:0009697"}
subset: ordo_disease {source="Orphanet:65684"}
synonym: "amyotrophy, monomelic" RELATED [OMIM:602440]
synonym: "benign focal amyotrophy" EXACT [Orphanet:65684]
synonym: "Hirayama disease" EXACT [OMIM:602440, Orphanet:65684]
synonym: "JMADUE" EXACT [Orphanet:65684]
synonym: "juvenile muscular atrophy of distal upper extremity" EXACT [Orphanet:65684]
synonym: "juvenile muscular atrophy of the distal upper limb" EXACT [Orphanet:65684]
synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697]
synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440]
xref: EFO:1001989 {source="MONDO:equivalentTo"}
xref: GARD:0009697 {source="MONDO:equivalentTo"}
xref: ICD10:G12.8 {source="ORDO:65684/ntbt", source="Orphanet:65684"}
xref: MedDRA:10069681 {source="ORDO:65684/e", source="Orphanet:65684"}
xref: MESH:C538253 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:65684/e", source="Orphanet:65684"}
xref: OMIM:602440 {source="MONDO:equivalentTo", source="ORDO:65684/e", source="Orphanet:65684"}
xref: Orphanet:65684 {source="MONDO:equivalentTo", source="OMIM:602440"}
xref: UMLS:C1865384 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:65684/e", source="OMIM:602440", source="Orphanet:65684"}
is_a: MONDO:0020129 {source="Orphanet:65684"} ! acquired motor neuron disease
property_value: exactMatch http://identifiers.org/meddra/10069681
property_value: exactMatch http://identifiers.org/mesh/C538253
property_value: exactMatch http://identifiers.org/omim/602440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865384
property_value: exactMatch Orphanet:65684
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy xsd:anyURI {source="GARD:0009697"}

[Term]
id: MONDO:0011225
name: severe combined immunodeficiency due to DCLRE1C deficiency
def: "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." [Orphanet:275]
subset: gard_rare {source="GARD:0009987"}
subset: ordo_disease {source="Orphanet:275"}
synonym: "artemis deficiency" RELATED [DOID:0060006]
synonym: "Athabaskan Severe combined immunodeficiency" RELATED [OMIM:602450]
synonym: "DCLRE1C severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RS-SCID" RELATED [OMIM:602450]
synonym: "SCID due to ARTEMIS deficiency" EXACT [Orphanet:275]
synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012]
synonym: "SCID due to DCLRE1C deficiency" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, Athabascan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, Athabaskan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" EXACT []
synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [Orphanet:275]
synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570]
synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT [DOID:0090012]
synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency, Athabascan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "severe combined immunodeficiency, Athabaskan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450]
xref: DOID:0060006 {source="MONDO:equivalentTo"}
xref: DOID:0090012 {source="MONDO:equivalentTo"}
xref: GARD:0009987 {source="MONDO:equivalentTo"}
xref: ICD10:D81.1 {source="ORDO:275/attributed", source="ORDO:275/ntbt", source="DOID:0090012", source="Orphanet:275"}
xref: OMIM:602450 {source="MONDO:cjm", source="ORDO:275/ntbt", source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275"}
xref: Orphanet:275 {source="DOID:0090012", source="MONDO:equivalentTo", source="OMIM:602450"}
xref: SCTID:715982006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.75/2.66"}
is_a: MONDO:0017855 {source="Orphanet:275"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021190 ! DNA repair disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865370
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865371
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865372
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865373
property_value: closeMatch Orphanet:231053
property_value: exactMatch DOID:0060006
property_value: exactMatch DOID:0090012
property_value: exactMatch http://identifiers.org/omim/602450
property_value: exactMatch http://identifiers.org/snomedct/715982006
property_value: exactMatch Orphanet:275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation xsd:anyURI {source="GARD:0009987"}

[Term]
id: MONDO:0011226
name: autosomal dominant nonsyndromic deafness 15
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 15" EXACT [DOID:0110546]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 15" EXACT [DOID:0110546, MONDORULE:2]
synonym: "deafness, autosomal dominant 15" RELATED [MONDO:Lexical, OMIM:602459]
synonym: "deafness, autosomal dominant 15; DFNA15" RELATED [OMIM:602459]
synonym: "deafness, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:602459]
synonym: "DFNA15" EXACT [DOID:0110546, MONDO:Lexical, OMIM:602459]
synonym: "POU4F3 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110546 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110546"}
xref: MESH:C566545 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602459 {source="DOID:0110546", source="MONDO:equivalentTo"}
xref: UMLS:C1865366 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602459"}
is_a: MONDO:0019587 {source="DC-OMIM:602459", source="DOID:0110546", source="MONDO:Redundant", source="OMIM:602459"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110546
property_value: exactMatch http://identifiers.org/mesh/C566545
property_value: exactMatch http://identifiers.org/omim/602459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865366

[Term]
id: MONDO:0011227
name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:397623"}
synonym: "SAMS" RELATED [MONDO:Lexical, OMIM:602471]
synonym: "SAMS syndrome" EXACT [Orphanet:397623]
synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471]
synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities; SAMS" RELATED [OMIM:602471]
xref: ICD10:Q87.1 {source="ORDO:397623/attributed", source="ORDO:397623/ntbt", source="Orphanet:397623"}
xref: MESH:C566544 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602471 {source="MONDO:equivalentTo", source="ORDO:397623/e", source="Orphanet:397623"}
xref: Orphanet:397623 {source="MONDO:equivalentTo", source="OMIM:602471"}
xref: SCTID:417081007 {source="MONDO:equivalentTo"}
xref: UMLS:C1865361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:397623", source="MEDGEN:kboom-pr92-c96", source="OMIM:602471"}
is_a: MONDO:0015329 {source="Orphanet:397623"} ! malformation syndrome with short stature
is_a: MONDO:0015502 {source="Orphanet:397623"} ! pinnae and external auditory canal anomaly
is_a: MONDO:0019589 {source="Orphanet:397623"} ! syndromic genetic deafness
is_a: MONDO:0019697 {source="Orphanet:397623"} ! mesomelic and rhizo-mesomelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:397623"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C566544
property_value: exactMatch http://identifiers.org/omim/602471
property_value: exactMatch http://identifiers.org/snomedct/417081007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865361
property_value: exactMatch Orphanet:397623

[Term]
id: MONDO:0011228
name: creases, infra-auricular cutaneous, with tall stature and advanced bone age
synonym: "creases, infra-auricular cutaneous, with tall stature and advanced bone age" EXACT [OMIM:602472]
xref: MESH:C566543 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602472 {source="MONDO:equivalentTo"}
xref: UMLS:C1865360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602472"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566543
property_value: exactMatch http://identifiers.org/omim/602472
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865360

[Term]
id: MONDO:0011229
name: ethylmalonic encephalopathy
def: "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." [Orphanet:51188]
subset: gard_rare {source="GARD:0002198"}
subset: ordo_disease {source="Orphanet:51188"}
synonym: "EE" RELATED [MONDO:Lexical, OMIM:602473]
synonym: "eme" RELATED [GARD:0002198]
synonym: "encephalopathy, ethylmalonic" RELATED [GARD:0002198, MONDO:Lexical, OMIM:602473]
synonym: "encephalopathy, ethylmalonic; EE" RELATED [OMIM:602473]
synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198]
synonym: "EPEMA syndrome" RELATED [GARD:0002198]
synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198]
xref: DOID:0060640 {source="MONDO:equivalentTo"}
xref: GARD:0002198 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="ORDO:51188/attributed", source="ORDO:51188/ntbt"}
xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:51188/e"}
xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="ORDO:51188/e"}
xref: Orphanet:51188 {source="DOID:0060640", source="MONDO:equivalentTo", source="OMIM:602473"}
xref: SCTID:723307008 {source="MONDO:equivalentTo"}
xref: UMLS:C1865349 {source="Orphanet:51188", source="DOID:0060640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602473", source="ORDO:51188/e"}
is_a: MONDO:0016803 {source="Orphanet:51188"} ! unspecified inborn mitochondrial disorder
property_value: exactMatch DOID:0060640
property_value: exactMatch http://identifiers.org/mesh/C535737
property_value: exactMatch http://identifiers.org/omim/602473
property_value: exactMatch http://identifiers.org/snomedct/723307008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865349
property_value: exactMatch Orphanet:51188
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy xsd:anyURI {source="GARD:0002198"}

[Term]
id: MONDO:0011230
name: ossification of the posterior longitudinal ligament of the spine
def: "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." [NCIT:P378]
synonym: "OPLL" EXACT [DOID:0060887, MONDO:Lexical, OMIM:602475]
synonym: "ossification of Posterior longitudinal ligament" EXACT [NCIT:C84975]
synonym: "ossification of the POSTERIOR longitudinal ligament of spine" RELATED [MONDO:Lexical, OMIM:602475]
synonym: "ossification of the POSTERIOR longitudinal ligament of spine; OPLL" RELATED [OMIM:602475]
xref: DOID:0060887 {source="MONDO:equivalentTo"}
xref: EFO:0005895 {source="MONDO:equivalentTo"}
xref: GARD:0009699 {source="MONDO:equivalentTo"}
xref: MESH:C537143 {source="EFO:0005895", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84975 {source="EFO:0005895", source="MONDO:equivalentTo"}
xref: OMIM:602475 {source="EFO:0005895", source="MONDO:equivalentTo", source="DOID:0060887"}
xref: SCTID:90448008 {source="EFO:0005895", source="MONDO:equivalentTo"}
xref: UMLS:C1865343 {source="OMIM:602475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 {source="EFO:0005895"} ! skeletal system disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0060887
property_value: exactMatch http://identifiers.org/mesh/C537143
property_value: exactMatch http://identifiers.org/omim/602475
property_value: exactMatch http://identifiers.org/snomedct/90448008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865343
property_value: exactMatch NCIT:C84975

[Term]
id: MONDO:0011231
name: FEB2
synonym: "convulsions, familial febrile, 2" RELATED [OMIM:602477]
synonym: "FEB2" EXACT [MONDO:Lexical, OMIM:602477]
synonym: "febrile seizures, familial, 2" RELATED [MONDO:Lexical, OMIM:602477]
synonym: "febrile seizures, familial, 2; FEB2" RELATED [OMIM:602477]
xref: MESH:C566541 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602477 {source="MONDO:equivalentTo"}
xref: UMLS:C1865342 {source="OMIM:602477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000032 {source="DC-OMIM:602477", source="OMIM:602477"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C566541
property_value: exactMatch http://identifiers.org/omim/602477
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865342

[Term]
id: MONDO:0011232
name: migraine, familial hemiplegic, 2
def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP1A2 familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial hemiplegic migraine type 2" RELATED [GARD:0010095]
synonym: "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2" EXACT [MONDO:design_pattern]
synonym: "FHM2" RELATED [MONDO:Lexical, OMIM:602481]
synonym: "hemiplegic migraine, familial type 2" RELATED [GARD:0010095]
synonym: "Mhp2" RELATED [OMIM:602481]
synonym: "migraine, familial basilar" RELATED [OMIM:602481]
synonym: "migraine, familial hemiplegic, 2" EXACT [MONDO:Lexical, OMIM:602481]
synonym: "migraine, familial hemiplegic, 2; FHM2" RELATED [OMIM:602481]
synonym: "migraine, familial hemiplegic, type 2" EXACT [MONDORULE:1, OMIM:602481]
xref: GARD:0010095 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:602481 {source="MONDO:equivalentTo"}
xref: UMLS:C1865322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602481"}
is_a: MONDO:0018925 {source="MONDO:Redundant", source="ORDO:569/btnt"} ! familial or sporadic hemiplegic migraine
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865323
property_value: exactMatch http://identifiers.org/omim/602481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865322

[Term]
id: MONDO:0011233
name: Axenfeld-Rieger syndrome type 3
def: "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: check relationship to MONDO:0007138
synonym: "anterior chamber Cleavage syndrome" RELATED [OMIM:602482]
synonym: "anterior chamber cleavage syndrome" EXACT [DOID:0110122]
synonym: "anterior segment mesenchymal dysgenesis" RELATED [DOID:0110122, OMIM:602482]
synonym: "Axenfeld anomaly" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [DOID:0110122]
synonym: "Axenfeld-Rieger syndrome caused by mutation in FOXC1" EXACT [MONDO:design_pattern]
synonym: "Axenfeld-Rieger syndrome, type 3" RELATED [MONDO:Lexical, OMIM:602482]
synonym: "Axenfeld-Rieger syndrome, type 3; RIEG3" RELATED [OMIM:602482]
synonym: "FOXC1 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RIEG3" EXACT [DOID:0110122, MONDO:Lexical, OMIM:602482]
synonym: "Rieger anomaly" RELATED [OMIM:602482]
synonym: "Rieger syndrome type 3" EXACT [DOID:0110122]
synonym: "Rieger syndrome, type 3" RELATED [OMIM:602482]
xref: DOID:0110122 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="DOID:0110122"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:602482 {source="MONDO:equivalentTo", source="DOID:0110122"}
xref: SCTID:22155002 {source="MONDO:kboom-pr-0.90/0.76/0.54", source="MONDO:equivalentTo"}
is_a: MONDO:0019187 {source="DC-OMIM:602482", source="DOID:0110122", source="MONDO:Redundant", source="MONDOLEX:0011233", source="OMIM:602482"} ! Axenfeld-Rieger syndrome
is_a: MONDO:0024456 ! anterior segment dysgenesis 3
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678503
property_value: exactMatch DOID:0110122
property_value: exactMatch http://identifiers.org/omim/602482
property_value: exactMatch http://identifiers.org/snomedct/22155002

[Term]
id: MONDO:0011234
name: auriculocondylar syndrome 1
def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCND1" RELATED [MONDO:Lexical, OMIM:602483]
synonym: "Auriculocondylar syndrome 1" EXACT [MONDO:Lexical, OMIM:602483]
synonym: "AURICULOCONDYLAR syndrome 1; ARCND1" RELATED [OMIM:602483]
synonym: "auriculocondylar syndrome caused by mutation in GNAI3" EXACT [MONDO:design_pattern]
synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1, OMIM:602483]
synonym: "GNAI3 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "question Mark ears syndrome" RELATED [OMIM:602483]
xref: OMIM:602483 {source="MONDO:equivalentTo"}
is_a: MONDO:0000107 {source="DC-OMIM:602483", source="MONDO:Redundant", source="OMIM:602483"} ! auriculocondylar syndrome
property_value: exactMatch http://identifiers.org/omim/602483

[Term]
id: MONDO:0011235
name: pelvic dysplasia-arthrogryposis of lower limbs syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2840"}
synonym: "pelvic dysplasia arthrogryposis of lower limbs" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with arthrogryposis of lower limbs" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484]
synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840]
xref: GARD:0004269 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:602484 {source="ORDO:2840/e", source="Orphanet:2840", source="MONDO:equivalentTo"}
xref: Orphanet:2840 {source="MONDO:equivalentTo", source="OMIM:602484"}
xref: UMLS:C1865294 {source="ORDO:2840/e", source="NCBI:mim2gene_medline", source="Orphanet:2840", source="MONDO:equivalentTo", source="OMIM:602484", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019711 {source="Orphanet:2840"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/mesh/C535292
property_value: exactMatch http://identifiers.org/mesh/C535548
property_value: exactMatch http://identifiers.org/omim/602484
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930869
property_value: exactMatch Orphanet:2840

[Term]
id: MONDO:0011236
name: hyperinsulinism due to glucokinase deficiency
def: "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." [Orphanet:79299]
subset: gard_rare
subset: ordo_disease {source="Orphanet:79299"}
synonym: "HHF3" RELATED [GARD:0009930, MONDO:Lexical, OMIM:602485]
synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [Orphanet:79299]
synonym: "hyperinsulinemic hypoglycemia familial 3" RELATED [GARD:0009930]
synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical, OMIM:602485]
synonym: "hyperinsulinemic hypoglycemia, familial, 3; HHF3" RELATED [OMIM:602485]
synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, OMIM:602485]
xref: DOID:0070216 {source="MONDO:equivalentTo"}
xref: GARD:0002818 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0009930 {source="MONDO:equivalentTo"}
xref: ICD10:E16.1 {source="ORDO:79299/attributed", source="ORDO:79299/ntbt", source="Orphanet:79299"}
xref: MESH:C538374 {source="MONDO:equivalentTo"}
xref: OMIM:602485 {source="MONDO:equivalentTo", source="ORDO:79299/e", source="Orphanet:79299", source="GARD:0009930"}
xref: Orphanet:79299 {source="OMIM:602485", source="MONDO:equivalentTo"}
xref: SCTID:717182006 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"}
is_a: MONDO:0005803 {source="DC-OMIM:602485"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0015624 {source="Orphanet:79299"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0017688 {source="Orphanet:79299"} ! disorder of glycolysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865290
property_value: exactMatch DOID:0070216
property_value: exactMatch http://identifiers.org/mesh/C538374
property_value: exactMatch http://identifiers.org/omim/602485
property_value: exactMatch http://identifiers.org/snomedct/717182006
property_value: exactMatch Orphanet:79299
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 xsd:anyURI {source="GARD:0009930"}

[Term]
id: MONDO:0011237
name: hyperlipidemia, combined, 1
def: "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial combined hyperlipidemia caused by mutation in USF1" EXACT [MONDO:design_pattern]
synonym: "hyperlipidemia, combined, 1" EXACT [OMIM:602491]
synonym: "hyperlipidemia, combined, type 1" EXACT [MONDORULE:1, OMIM:602491]
synonym: "hyperlipidemia, familial combined, 1" RELATED [OMIM:602491]
synonym: "hyplip1" RELATED [OMIM:602491]
synonym: "USF1 familial combined hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566535 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602491 {source="MONDO:equivalentTo"}
xref: UMLS:C1865289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602491"}
is_a: MONDO:0001807 {source="DC-OMIM:602491", source="MESH:C566535", source="MONDO:Redundant"} ! familial combined hyperlipidemia
property_value: exactMatch http://identifiers.org/mesh/C566535
property_value: exactMatch http://identifiers.org/omim/602491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865289

[Term]
id: MONDO:0011238
name: chondrodysplasia punctata, brachytelephalangic, autosomal
synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [OMIM:602497]
synonym: "chondrodysplasia punctata, brachytelephalangic, autosomal" EXACT [OMIM:602497]
xref: OMIM:602497 {source="MONDO:equivalentTo"}
is_a: MONDO:0007321 {source="MONDO:cjm"} ! autosomal dominant chondrodysplasia punctata
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865288
property_value: exactMatch http://identifiers.org/omim/602497

[Term]
id: MONDO:0011239
name: colobomatous macrophthalmia-microcornea syndrome
subset: ordo_disease {source="Orphanet:468672"}
synonym: "MACOM" RELATED [MONDO:Lexical, OMIM:602499]
synonym: "MACOM syndrome" EXACT [Orphanet:468672]
synonym: "macrophthalmia, colobomatous, with microcornea" RELATED [MONDO:Lexical, OMIM:602499]
synonym: "macrophthalmia, colobomatous, with microcornea; MACOM" RELATED [OMIM:602499]
xref: MESH:C566533 {source="MONDO:equivalentTo"}
xref: OMIM:602499 {source="MONDO:equivalentTo", source="Orphanet:468672"}
xref: Orphanet:468672 {source="MONDO:equivalentTo"}
xref: UMLS:C1865286 {source="OMIM:602499", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020146 {source="Orphanet:468672"} ! major induction processes eye anomaly
property_value: exactMatch http://identifiers.org/mesh/C566533
property_value: exactMatch http://identifiers.org/omim/602499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865286
property_value: exactMatch Orphanet:468672

[Term]
id: MONDO:0011240
name: megalencephaly-capillary malformation-polymicrogyria syndrome
def: "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." [Orphanet:60040]
subset: ordo_malformation_syndrome {source="Orphanet:60040"}
synonym: "M-CM" RELATED [GARD:0006950]
synonym: "M-CMTC" RELATED [GARD:0006950]
synonym: "macrocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
synonym: "macrocephaly-capillary malformation" RELATED [OMIM:602501]
synonym: "macrocephaly-capillary malformation syndrome" EXACT [Orphanet:60040]
synonym: "macrocephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501]
synonym: "macrocephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040]
synonym: "MCAP" EXACT [MONDO:Lexical, OMIM:602501, Orphanet:60040]
synonym: "MCM" EXACT [Orphanet:60040]
synonym: "MCMTC" EXACT [Orphanet:60040]
synonym: "megalencephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
synonym: "megalencephaly-capillary malformation syndrome" EXACT [OMIM:602501, Orphanet:60040]
synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [MONDO:Lexical, OMIM:602501]
synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome; MCAP" RELATED [OMIM:602501]
synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501]
synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040]
synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
xref: GARD:0006950 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.3 {source="ORDO:60040/attributed", source="ORDO:60040/ntbt", source="Orphanet:60040"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536142 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602501 {source="MONDO:equivalentTo", source="ORDO:60040/e", source="Orphanet:60040"}
xref: Orphanet:60040 {source="OMIM:602501", source="MONDO:equivalentTo"}
xref: SCTID:703370002 {source="MONDO:kboom-pr-0.92/0.83/0.18", source="MONDO:equivalentTo"}
xref: UMLS:C1865285 {source="OMIM:602501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:60040"}
is_a: MONDO:0015945 {source="Orphanet:60040"} ! polymalformative genetic syndrome with increased risk of developing cancer
relationship: disease_has_feature MONDO:0016231 ! capillary malformation
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:60040"} ! rare capillary malformation with associated anomalies
relationship: excluded_subClassOf MONDO:0019293 {source="MESH:C536142", source="Orphanet:60040"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:60040"} ! overgrowth syndrome
property_value: exactMatch http://identifiers.org/mesh/C536142
property_value: exactMatch http://identifiers.org/omim/602501
property_value: exactMatch http://identifiers.org/snomedct/703370002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865285
property_value: exactMatch Orphanet:60040

[Term]
id: MONDO:0011241
name: pseudoacromegaly with severe insulin resistance
synonym: "pseudoacromegaly with severe insulin resistance" EXACT [OMIM:602511]
xref: MESH:C566531 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602511 {source="MONDO:equivalentTo"}
xref: UMLS:C1865284 {source="NCBI:mim2gene_medline", source="OMIM:602511", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566531
property_value: exactMatch http://identifiers.org/omim/602511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865284

[Term]
id: MONDO:0011242
name: Bartter disease type 4a
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BARTS4A" EXACT [DOID:0110145]
synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 4a" EXACT [DOID:0110145]
synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "Bartter syndrome, type 4A" RELATED [OMIM:602522]
synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness; BARTS4A" RELATED [OMIM:602522]
synonym: "BSND" EXACT [DOID:0110145]
synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145]
synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522]
xref: DOID:0110145 {source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="DOID:0110145"}
xref: OMIM:602522 {source="MONDO:equivalentTo", source="DOID:0110145"}
xref: SCTID:717791000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1865270 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:602522", source="MONDO:equivalentTo"}
is_a: MONDO:0019524 {source="MONDOLEX:0011242", source="Orphanet:xref", source="linkedlifedata"} ! infantile Bartter syndrome with sensorineural deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748440
property_value: exactMatch DOID:0110145
property_value: exactMatch http://identifiers.org/omim/602522
property_value: exactMatch http://identifiers.org/snomedct/717791000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865270

[Term]
id: MONDO:0011243
name: grange syndrome
def: "Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." [Orphanet:79094]
subset: ordo_malformation_syndrome {source="Orphanet:79094"}
synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [OMIM:602531]
synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094]
synonym: "grange syndrome; GRNG" RELATED [OMIM:602531]
synonym: "GRNG" RELATED [OMIM:602531]
synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094]
xref: ICD10:Q87.8 {source="Orphanet:79094", source="ORDO:79094/attributed", source="ORDO:79094/ntbt"}
xref: MESH:C566529 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602531 {source="ORDO:79094/e", source="Orphanet:79094", source="MONDO:equivalentTo"}
xref: Orphanet:79094 {source="OMIM:602531", source="MONDO:equivalentTo"}
xref: SCTID:717824007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
xref: UMLS:C1865267 {source="MEDGEN:kboom-pr97-c99", source="OMIM:602531", source="Orphanet:79094", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015332 {source="Orphanet:79094"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0043008 {source="Orphanet:79094"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C566529
property_value: exactMatch http://identifiers.org/omim/602531
property_value: exactMatch http://identifiers.org/snomedct/717824007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865267
property_value: exactMatch Orphanet:79094

[Term]
id: MONDO:0011244
name: Marshall-Smith syndrome
def: "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." [Orphanet:561]
subset: gard_rare {source="GARD:0006985"}
subset: ordo_malformation_syndrome {source="Orphanet:561"}
synonym: "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" EXACT [Orphanet:561]
synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535]
synonym: "Marshall-SMITH syndrome; MRSHSS" RELATED [OMIM:602535]
synonym: "MRSHSS" RELATED [MONDO:Lexical, OMIM:602535]
xref: DOID:0050858 {source="MONDO:equivalentTo"}
xref: GARD:0006985 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.3 {source="ORDO:561/attributed", source="ORDO:561/ntbt", source="Orphanet:561"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536026 {source="MONDO:equivalentTo", source="ORDO:561/e", source="MONDO:ontobio", source="Orphanet:561"}
xref: OMIM:602535 {source="MONDO:equivalentTo", source="ORDO:561/e", source="DOID:0050858", source="Orphanet:561"}
xref: Orphanet:561 {source="MONDO:equivalentTo", source="OMIM:602535", source="DOID:0050858"}
xref: SCTID:73284007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602535", source="ORDO:561/e", source="Orphanet:561"}
is_a: MONDO:0019716 {source="Orphanet:561"} ! overgrowth syndrome
is_a: MONDO:0043007 {source="Orphanet:561"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0050858
property_value: exactMatch http://identifiers.org/mesh/C536026
property_value: exactMatch http://identifiers.org/omim/602535
property_value: exactMatch http://identifiers.org/snomedct/73284007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265211
property_value: exactMatch Orphanet:561
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome xsd:anyURI {source="GARD:0006985"}

[Term]
id: MONDO:0011245
name: ichthyosis, hystrix-like, with deafness
synonym: "Hid syndrome" RELATED [OMIM:602540]
synonym: "ichthyosis, hystrix-like, with deafness" EXACT [OMIM:602540]
xref: MESH:C566528 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602540 {source="MONDO:equivalentTo"}
xref: UMLS:C1865234 {source="OMIM:602540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018781 {source="ORDO:477/btnt"} ! KID syndrome
property_value: exactMatch http://identifiers.org/mesh/C566528
property_value: exactMatch http://identifiers.org/omim/602540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865234

[Term]
id: MONDO:0011246
name: megaconial type congenital muscular dystrophy
subset: gard_rare {source="GARD:0010317"}
subset: ordo_disease {source="Orphanet:280671"}
synonym: "congenital megaconial myopathy" EXACT [DOID:0110632, Orphanet:280671]
synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632]
synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [DOID:0110632, Orphanet:280671]
synonym: "MDCMC" RELATED [MONDO:Lexical, OMIM:602541]
synonym: "megaconial congenital muscular dystrophy" EXACT [DOID:0110632, Orphanet:280671]
synonym: "megaconial congénital muscular dystrophy" RELATED [GARD:0010317]
synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical, OMIM:602541]
synonym: "muscular dystrophy, congenital, megaconial type; MDCMC" RELATED [OMIM:602541]
synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541]
xref: DOID:0110632 {source="MONDO:equivalentTo"}
xref: GARD:0010317 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="DOID:0110632", source="ORDO:280671/attributed", source="ORDO:280671/ntbt", source="Orphanet:280671"}
xref: MESH:C566527 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="ORDO:280671/e", source="Orphanet:280671"}
xref: Orphanet:280671 {source="OMIM:602541", source="DOID:0110632", source="MONDO:equivalentTo"}
xref: UMLS:C1865233 {source="OMIM:602541", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280671", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018120 {source="Orphanet:280671"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
is_a: MONDO:0019950 {source="DOID:0110632", source="MONDOLEX:0011246", source="Orphanet:280671"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0110632
property_value: exactMatch http://identifiers.org/mesh/C566527
property_value: exactMatch http://identifiers.org/omim/602541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865233
property_value: exactMatch Orphanet:280671
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type xsd:anyURI {source="GARD:0010317"}

[Term]
id: MONDO:0011247
name: jejunal atresia with renal adysplasia
subset: gard_rare {source="GARD:0009985"}
synonym: "jejunal atresia with renal adysplasia" EXACT [OMIM:602551]
xref: GARD:0009985 {source="MONDO:equivalentTo"}
xref: MESH:C537567 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602551 {source="MONDO:equivalentTo"}
xref: UMLS:C1865209 {source="OMIM:602551", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537567
property_value: exactMatch http://identifiers.org/omim/602551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865209
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia xsd:anyURI {source="GARD:0009985"}

[Term]
id: MONDO:0011248
name: distal monosomy 13q
def: "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." [Orphanet:1590]
subset: ordo_malformation_syndrome {source="Orphanet:1590"}
synonym: "13q32 deletion" EXACT [Orphanet:1590]
synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [OMIM:602553]
synonym: "deletion 13q32" EXACT [Orphanet:1590]
synonym: "distal 13q deletion" EXACT [Orphanet:1590]
synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590]
synonym: "monosomy 13q32" EXACT [Orphanet:1590]
synonym: "telomeric deletion13q" EXACT [Orphanet:1590]
xref: ICD10:Q93.5 {source="Orphanet:1590", source="ORDO:1590/attributed", source="ORDO:1590/ntbt"}
xref: MESH:C566526 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602553 {source="MONDO:equivalentTo", source="Orphanet:1590", source="ORDO:1590/e"}
xref: Orphanet:1590 {source="OMIM:602553", source="MONDO:equivalentTo"}
xref: SCTID:763527007 {source="MONDO:equivalentTo"}
xref: UMLS:C1865208 {source="MEDGEN:kboom-pr98-c99", source="OMIM:602553", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1590"}
is_a: MONDO:0015246 {source="Orphanet:1590"} ! syndromic anorectal malformation
is_a: MONDO:0016911 {source="Orphanet:1590"} ! partial deletion of the long arm of chromosome 13
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1590"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/mesh/C566526
property_value: exactMatch http://identifiers.org/omim/602553
property_value: exactMatch http://identifiers.org/snomedct/763527007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930913
property_value: exactMatch Orphanet:1590

[Term]
id: MONDO:0011249
name: torsion dystonia with onset in infancy
def: "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." [DOID:0090058]
synonym: "torsion dystonia with onset in infancy" EXACT [OMIM:602554]
synonym: "torsion dystonia with onset in infancy" RELATED [OMIM:602554]
xref: DOID:0090058 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="DOID:0090058"}
xref: MESH:C536969 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602554 {source="DOID:0090058", source="MONDO:equivalentTo"}
xref: UMLS:C1865205 {source="OMIM:602554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007492 {source="ORDO:256/btnt"} ! early-onset generalized limb-onset dystonia
property_value: exactMatch DOID:0090058
property_value: exactMatch http://identifiers.org/mesh/C536969
property_value: exactMatch http://identifiers.org/omim/602554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865205

[Term]
id: MONDO:0011250
name: microcephaly, macrotia, and mental retardation
synonym: "microcephaly, macrotia, and mental retardation" EXACT [OMIM:602555]
xref: MESH:C566525 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602555 {source="MONDO:equivalentTo"}
xref: UMLS:C1865204 {source="NCBI:mim2gene_medline", source="OMIM:602555", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566525
property_value: exactMatch http://identifiers.org/omim/602555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865204

[Term]
id: MONDO:0011251
name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly
synonym: "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" EXACT [OMIM:602556]
xref: MESH:C566524 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602556 {source="MONDO:equivalentTo"}
xref: UMLS:C1865203 {source="OMIM:602556", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566524
property_value: exactMatch http://identifiers.org/omim/602556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865203

[Term]
id: MONDO:0011252
name: spondyloepimetaphyseal dysplasia, Shohat type
def: "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." [Orphanet:93352]
subset: gard_rare {source="GARD:0004980"}
subset: ordo_disease {source="Orphanet:93352"}
synonym: "SEMD Shohat type" RELATED [GARD:0004980]
synonym: "SEMD, Shohat type" EXACT [OMIM:602557, Orphanet:93352]
synonym: "SEMDSH" RELATED [OMIM:602557]
synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980]
synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557]
synonym: "spondyloepimetaphyseal dysplasia, Shohat type; SEMDSH" RELATED [OMIM:602557]
xref: GARD:0004980 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:93352", source="ORDO:93352/attributed", source="ORDO:93352/ntbt"}
xref: MESH:C566523 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="ORDO:93352/e"}
xref: Orphanet:93352 {source="MONDO:equivalentTo", source="OMIM:602557"}
xref: SCTID:719201004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C1865185 {source="Orphanet:93352", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602557"}
is_a: MONDO:0016761 {source="DC-OMIM:602557", source="Orphanet:93352", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C566523
property_value: exactMatch http://identifiers.org/omim/602557
property_value: exactMatch http://identifiers.org/snomedct/719201004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865185
property_value: exactMatch Orphanet:93352
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type xsd:anyURI {source="GARD:0004980"}

[Term]
id: MONDO:0011253
name: craniomicromelic syndrome
def: "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." [Orphanet:1524]
subset: gard_rare {source="GARD:0001583"}
subset: ordo_malformation_syndrome {source="Orphanet:1524"}
synonym: "craniomicromelic syndrome" EXACT [OMIM:602558]
xref: GARD:0001583 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1524/attributed", source="ORDO:1524/ntbt", source="Orphanet:1524"}
xref: MESH:C566522 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602558 {source="MONDO:equivalentTo", source="ORDO:1524/e", source="Orphanet:1524"}
xref: Orphanet:1524 {source="MONDO:equivalentTo", source="OMIM:602558"}
xref: SCTID:725098001 {source="MONDO:equivalentTo"}
xref: UMLS:C1865184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602558", source="Orphanet:1524"}
is_a: MONDO:0015338 {source="Orphanet:1524"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C566522
property_value: exactMatch http://identifiers.org/omim/602558
property_value: exactMatch http://identifiers.org/snomedct/725098001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865184
property_value: exactMatch Orphanet:1524
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome xsd:anyURI {source="GARD:0001583"}

[Term]
id: MONDO:0011254
name: brachydactyly, intraventricular septal defect, and deafness
synonym: "brachydactyly, intraventricular septal defect, and deafness" EXACT [OMIM:602561]
xref: MESH:C566521 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602561 {source="MONDO:equivalentTo"}
xref: UMLS:C1865182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602561"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566521
property_value: exactMatch http://identifiers.org/omim/602561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865182

[Term]
id: MONDO:0011255
name: mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
subset: ordo_disease {source="Orphanet:357158"}
synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OMIM:602562]
synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158]
synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562]
synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562]
xref: ICD10:Q87.0 {source="Orphanet:357158", source="ORDO:357158/attributed", source="ORDO:357158/ntbt"}
xref: MESH:C566520 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602562 {source="Orphanet:357158", source="ORDO:357158/e", source="MONDO:equivalentTo"}
xref: Orphanet:357158 {source="OMIM:602562", source="MONDO:equivalentTo"}
xref: UMLS:C1865181 {source="Orphanet:357158", source="OMIM:602562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015334 {source="Orphanet:357158"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015483 {source="Orphanet:357158"} ! mandibulofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019710 {source="Orphanet:357158", source="Orphanet:357158/inferred"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch http://identifiers.org/mesh/C566520
property_value: exactMatch http://identifiers.org/omim/602562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865181
property_value: exactMatch Orphanet:357158

[Term]
id: MONDO:0011256
name: emphysema, congenital, with deafness, penoscrotal web, and mental retardation
synonym: "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" EXACT [OMIM:602564]
xref: MESH:C566519 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602564 {source="MONDO:equivalentTo"}
xref: UMLS:C1865180 {source="OMIM:602564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566519
property_value: exactMatch http://identifiers.org/omim/602564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865180

[Term]
id: MONDO:0011257
name: MPI-CDG
def: "(15q24.1)." [Orphanet:79319]
subset: ordo_disease {source="Orphanet:79319"}
synonym: "carbohydrate deficient glycoprotein syndrome type IB" EXACT [Orphanet:79319]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" RELATED [GARD:0009830]
synonym: "CDG 1B" RELATED [GARD:0009830]
synonym: "CDG gastrointestinal type" RELATED [GARD:0009830]
synonym: "CDG Ib" RELATED [OMIM:602579]
synonym: "CDG syndrome type IB" EXACT [Orphanet:79319]
synonym: "CDG, gastrointestinal type" RELATED [OMIM:602579]
synonym: "CDG-Ib" EXACT [Orphanet:79319]
synonym: "CDG1B" EXACT [MONDO:Lexical, OMIM:602579, Orphanet:79319]
synonym: "congenital disorder of glycosylation type 1b" EXACT [Orphanet:79319]
synonym: "congenital disorder of glycosylation type IB" EXACT [Orphanet:79319]
synonym: "congenital disorder of glycosylation, type IB" RELATED [MONDO:Lexical, OMIM:602579]
synonym: "congenital disorder of glycosylation, type IB; CDG1B" RELATED [OMIM:602579]
synonym: "Mannosephosphate isomerase deficiency" RELATED [OMIM:602579]
synonym: "Mpi deficiency" RELATED [OMIM:602579]
synonym: "MPI-CDG (CDG-Ib)" RELATED [GARD:0009830]
synonym: "phosphomannose isomerase deficiency" EXACT [Orphanet:79319]
synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" RELATED [OMIM:602579]
synonym: "Saguenay Lac Saint Jean syndrome" RELATED [GARD:0009830]
synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [OMIM:602579]
synonym: "SLSJ syndrome" RELATED [GARD:0009830]
synonym: "Slsj syndrome" RELATED [OMIM:602579]
xref: GARD:0009830 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79319", source="ORDO:79319/attributed", source="ORDO:79319/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535740 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602579 {source="ORDO:79319/e", source="Orphanet:79319", source="MONDO:equivalentTo"}
xref: Orphanet:79319 {source="MONDO:equivalentTo", source="OMIM:602579"}
xref: SCTID:124668009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0005500 {source="DC-OMIM:602579", source="MONDOLEX:0011257"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation
is_a: MONDO:0018288 {source="Orphanet:79319"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018291 {source="Orphanet:79319"} ! congenital disorder of glycosylation with intestinal involvement
is_a: MONDO:0018722 {source="Orphanet:79319"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="Orphanet:79319"} ! syndromic lymphedema
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865145
property_value: exactMatch http://identifiers.org/mesh/C535740
property_value: exactMatch http://identifiers.org/omim/602579
property_value: exactMatch http://identifiers.org/snomedct/124668009
property_value: exactMatch Orphanet:79319

[Term]
id: MONDO:0011258
name: branchiootic syndrome 1
def: "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "anterior segment anomalies with or without cataract" RELATED [OMIM:602588]
synonym: "bo syndrome 1" RELATED [OMIM:602588]
synonym: "BOS1" RELATED [MONDO:Lexical, OMIM:602588]
synonym: "branchiootic dysplasia" RELATED [OMIM:602588]
synonym: "branchiootic syndrome 1" EXACT [MONDO:Lexical, OMIM:602588]
synonym: "branchiootic syndrome 1; BOS1" RELATED [OMIM:602588]
synonym: "branchiootic syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern]
synonym: "branchiootic syndrome type 1" EXACT [MONDORULE:1, OMIM:602588]
synonym: "EYA1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:602588 {source="MONDO:equivalentTo"}
xref: UMLS:C1865143 {source="NCBI:mim2gene_medline", source="OMIM:602588", source="MONDO:equivalentTo"}
is_a: MONDO:0018878 {source="DC-OMIM:602588", source="MONDO:Redundant"} ! branchiootic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551443
property_value: exactMatch http://identifiers.org/omim/602588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865143

[Term]
id: MONDO:0011259
name: retinitis pigmentosa 22
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1." [DOID:0110400, PMID:9545639]
subset: gard_rare {source="GARD:0010393"}
synonym: "retinitis pigmentosa 22" EXACT [MONDO:Lexical, OMIM:602594]
synonym: "retinitis pigmentosa 22; RP22" RELATED [OMIM:602594]
synonym: "retinitis pigmentosa type 22" EXACT [DOID:0110400, MONDORULE:2]
synonym: "RP 22" RELATED [GARD:0010393]
synonym: "RP22" EXACT [DOID:0110400, MONDO:Lexical, OMIM:602594]
xref: DOID:0110400 {source="MONDO:equivalentTo"}
xref: GARD:0010393 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110400"}
xref: OMIM:602594 {source="MONDO:equivalentTo", source="DOID:0110400"}
xref: UMLS:C3887981 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:602594", source="DOID:0110400", source="OMIM:602594"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1419609
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865140
property_value: exactMatch DOID:0110400
property_value: exactMatch http://identifiers.org/omim/602594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887981
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22 xsd:anyURI {source="GARD:0010393"}

[Term]
id: MONDO:0011260
name: pancreatic lymphoma, familial
def: "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: predisposition
synonym: "hereditary pancreas lymphoma" EXACT [MONDO:patterns/hereditary]
synonym: "pancreatic lymphoma, familial" EXACT [OMIM:602596]
xref: MESH:C566516 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602596 {source="MONDO:equivalentTo"}
xref: UMLS:C1865139 {source="OMIM:602596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002114 ! pancreas lymphoma
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0002114 ! pancreas lymphoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C566516
property_value: exactMatch http://identifiers.org/omim/602596
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865139

[Term]
id: MONDO:0011261
name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit." [Orphanet:163649]
subset: n_of_one {source="OMIM:602611"}
subset: ordo_disease {source="Orphanet:163649"}
synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT [OMIM:602611]
synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649]
xref: ICD10:Q77.7 {source="ORDO:163649/attributed", source="ORDO:163649/ntbt", source="Orphanet:163649"}
xref: MESH:C566515 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602611 {source="MONDO:equivalentTo", source="Orphanet:163649", source="ORDO:163649/e"}
xref: Orphanet:163649 {source="OMIM:602611", source="MONDO:equivalentTo"}
xref: SCTID:718766002 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:163649"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015335 {source="Orphanet:163649"} ! orofacial clefting syndrome
is_a: MONDO:0016761 {source="Orphanet:163649"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865134
property_value: exactMatch http://identifiers.org/mesh/C566515
property_value: exactMatch http://identifiers.org/omim/602611
property_value: exactMatch http://identifiers.org/snomedct/718766002
property_value: exactMatch Orphanet:163649

[Term]
id: MONDO:0011262
name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
def: "Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." [Orphanet:1323]
comment: Editor note: check ORDO
subset: gard_rare
subset: ordo_malformation_syndrome
synonym: "camptodactyly, joint contractures, facial skeletal defects" RELATED [GARD:0000216]
synonym: "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" EXACT [GARD:0000216, OMIM:602612]
synonym: "Rozin hertz Goodman syndrome" RELATED [GARD:0000216]
xref: GARD:0000216 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1323"}
xref: MESH:C535876 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602612 {source="Orphanet:1323", source="MONDO:equivalentTo", source="GARD:0000216"}
xref: Orphanet:1323 {source="MONDO:equivalentTo", source="OMIM:602612", source="GARD:0000216"}
xref: SCTID:715986009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865133 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602612"}
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0020169 {source="Orphanet:1323"} ! rare disorder with ptosis
is_a: MONDO:0043008 {source="Orphanet:1323"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931051
property_value: exactMatch http://identifiers.org/mesh/C535876
property_value: exactMatch http://identifiers.org/omim/602612
property_value: exactMatch http://identifiers.org/snomedct/715986009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865133
property_value: exactMatch Orphanet:1323

[Term]
id: MONDO:0011263
name: skeletal dysplasia and progressive central nervous system degeneration, lethal
synonym: "skeletal dysplasia and progressive central nervous system degeneration, lethal" EXACT [OMIM:602613]
xref: MESH:C566514 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602613 {source="MONDO:equivalentTo"}
xref: UMLS:C1865117 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602613"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566514
property_value: exactMatch http://identifiers.org/omim/602613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865117

[Term]
id: MONDO:0011264
name: torsion dystonia 6
def: "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." [Orphanet:98806]
subset: ordo_disease {source="Orphanet:98806"}
synonym: "adolescent-onset dystonia of mixed type" RELATED [GARD:0009630]
synonym: "dystonia 6" RELATED [GARD:0009630]
synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical, OMIM:602629]
synonym: "dystonia 6, torsion; DYT6" RELATED [OMIM:602629]
synonym: "DYT-THAP1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm]
synonym: "DYT6" EXACT [MONDO:Lexical, OMIM:602629, Orphanet:98806]
synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806]
synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern]
synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806]
synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806]
synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630]
synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1]
synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629]
xref: DOID:0090039 {source="MONDO:equivalentTo"}
xref: GARD:0009630 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="ORDO:98806/attributed", source="ORDO:98806/ntbt", source="Orphanet:98806", source="DOID:0090039"}
xref: MESH:C538003 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602629 {source="MONDO:equivalentTo", source="ORDO:98806/e", source="Orphanet:98806", source="DOID:0090039"}
xref: Orphanet:98806 {source="MONDO:equivalentTo", source="DOID:0090039", source="OMIM:602629"}
xref: SCTID:702448007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.71"}
xref: UMLS:C1414216 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98806", source="OMIM:602629"}
is_a: MONDO:0018303 {source="MONDO:Redundant", source="Orphanet:98806"} ! generalized isolated dystonia
property_value: exactMatch DOID:0090039
property_value: exactMatch http://identifiers.org/mesh/C538003
property_value: exactMatch http://identifiers.org/omim/602629
property_value: exactMatch http://identifiers.org/snomedct/702448007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1414216
property_value: exactMatch Orphanet:98806

[Term]
id: MONDO:0011265
name: STHAG2
synonym: "hypodontia/oligodontia 2" RELATED [OMIM:602639]
synonym: "STHAG2" EXACT [MONDO:Lexical, OMIM:602639]
synonym: "tooth agenesis, selective, 2" RELATED [MONDO:Lexical, OMIM:602639]
synonym: "tooth agenesis, selective, 2; STHAG2" RELATED [OMIM:602639]
xref: MESH:C566513 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602639 {source="MONDO:equivalentTo"}
xref: UMLS:C1865092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602639"}
is_a: MONDO:0005486 {source="DC-OMIM:602639", source="OMIM:602639"} ! tooth agenesis
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/mesh/C566513
property_value: exactMatch http://identifiers.org/omim/602639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865092

[Term]
id: MONDO:0011266
name: myotonic dystrophy type 2
def: "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." [Orphanet:606]
subset: gard_rare {source="GARD:0009728"}
subset: ordo_disease {source="Orphanet:606"}
synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DM2" RELATED [MONDO:Lexical, OMIM:602668]
synonym: "dystrophia myotonica 2" RELATED [OMIM:602668]
synonym: "dystrophia myotonica type 2" RELATED [GARD:0009728]
synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical, OMIM:602668]
synonym: "myotonic dystrophy 2; DM2" RELATED [OMIM:602668]
synonym: "myotonic dystrophy caused by mutation in CNBP" EXACT [MONDO:design_pattern]
synonym: "myotonic dystrophy type 2" EXACT [MONDORULE:1, OMIM:602668, Orphanet:606]
synonym: "myotonic myopathy, proximal" RELATED [OMIM:602668]
synonym: "PROMM" RELATED [GARD:0009728]
synonym: "proximal myotonic dystrophy" EXACT [Orphanet:606]
synonym: "proximal myotonic myopathy" EXACT [DOID:0050759]
synonym: "ricker disease" EXACT [Orphanet:606]
synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606]
xref: DOID:0050759 {source="MONDO:equivalentTo"}
xref: GARD:0009728 {source="MONDO:equivalentTo"}
xref: ICD10:G71.1 {source="ORDO:606/attributed", source="ORDO:606/ntbt", source="Orphanet:606", source="DOID:0050759"}
xref: ICD10:G71.19 {source="DOID:0050759"}
xref: ICD9:359.2 {source="DOID:0050759"}
xref: NCIT:C84680 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:602668 {source="ORDO:606/e", source="MONDO:equivalentTo", source="Orphanet:606", source="DOID:0050759"}
xref: Orphanet:606 {source="MONDO:equivalentTo", source="OMIM:602668"}
is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="MONDO:Redundant", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy
is_a: MONDO:0020169 {source="Orphanet:606"} ! rare disorder with ptosis
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: closeMatch http://identifiers.org/snomedct/155096007
property_value: closeMatch http://identifiers.org/snomedct/193237003
property_value: closeMatch http://identifiers.org/snomedct/193240003
property_value: closeMatch http://identifiers.org/snomedct/267713009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931689
property_value: closeMatch NCIT:C84913
property_value: exactMatch DOID:0050759
property_value: exactMatch http://identifiers.org/mesh/D020967
property_value: exactMatch http://identifiers.org/omim/602668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752354
property_value: exactMatch NCIT:C84680
property_value: exactMatch Orphanet:606
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 xsd:anyURI {source="GARD:0009728"}

[Term]
id: MONDO:0011267
name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration
synonym: "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration" RELATED [OMIM:602685]
synonym: "Mrst" RELATED [OMIM:602685]
xref: MESH:C566429 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602685 {source="MONDO:equivalentTo"}
xref: UMLS:C1864549 {source="OMIM:602685", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566429/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566429
property_value: exactMatch http://identifiers.org/omim/602685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864549

[Term]
id: MONDO:0011268
name: renal tubular acidosis, distal, autosomal recessive
synonym: "classical distal renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "classical distal RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "renal tubular acidosis, autosomal recessive with preserved hearing" RELATED [GARD:0004669]
synonym: "renal tubular acidosis, autosomal recessive, with preserved hearing" RELATED [OMIM:602722]
synonym: "renal tubular acidosis, distal, autosomal recessive" EXACT [MONDO:Lexical, OMIM:602722]
synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss" RELATED [OMIM:602722]
synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included" RELATED [GARD:0004669]
synonym: "renal tubular acidosis, distal, autosomal recessive; RTADR" RELATED [OMIM:602722]
synonym: "RTA, distal, autosomal recessive" RELATED [OMIM:602722]
synonym: "RTADR" RELATED [MONDO:Lexical, OMIM:602722]
synonym: "type 1 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "type 1 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
xref: GARD:0004669 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:602722 {source="MONDO:equivalentTo"}
is_a: MONDO:0001909 {source="DC-OMIM:602722", source="MONDOLEX:0011268"} ! renal tubular acidosis
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018440 {source="ORDO:402041/btnt"} ! autosomal recessive distal renal tubular acidosis
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864499
property_value: exactMatch http://identifiers.org/omim/602722

[Term]
id: MONDO:0011269
name: psoriasis 2
def: "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CARD14 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "psoriasis 2" EXACT [MONDO:Lexical, OMIM:602723]
synonym: "psoriasis 2; PSORS2" RELATED [OMIM:602723]
synonym: "psoriasis caused by mutation in CARD14" EXACT [MONDO:design_pattern]
synonym: "psoriasis type 2" EXACT [MONDORULE:1, OMIM:602723]
synonym: "PSORS2" RELATED [MONDO:Lexical, OMIM:602723]
xref: OMIM:602723 {source="MONDO:equivalentTo"}
xref: UMLS:C1864497 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602723"}
is_a: MONDO:0005083 {source="DC-OMIM:602723", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/omim/602723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864497

[Term]
id: MONDO:0011270
name: prostate cancer, hereditary, 8
synonym: "HPC8" RELATED [OMIM:602759]
synonym: "predisposing for prostate cancer" RELATED [OMIM:602759]
synonym: "prostate cancer, hereditary, 8" EXACT [OMIM:602759]
synonym: "prostate cancer, hereditary, type 8" EXACT [MONDORULE:1, OMIM:602759]
xref: MESH:C566426 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602759 {source="MONDO:equivalentTo"}
xref: UMLS:C1864472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602759"}
is_a: MONDO:0023122 {source="MONDOLEX:0011270"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C566426
property_value: exactMatch http://identifiers.org/omim/602759
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864472

[Term]
id: MONDO:0011271
name: rigid spine muscular dystrophy 1
def: "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." [NCIT:C126691]
synonym: "classic MmD" EXACT [DOID:0110633]
synonym: "classic multiminicore disease" EXACT [DOID:0110633]
synonym: "classic multiminicore myopathy" EXACT [DOID:0110633]
synonym: "congenital merosin-positive muscular dystrophy with early spine rigidity" EXACT [DOID:0110633]
synonym: "desmin-related myopathy with Mallory bodies" EXACT [DOID:0110633]
synonym: "desmin-related myopathy with Mallory bodies" RELATED [OMIM:602771]
synonym: "desmin-related myopathy with Mallory body-like inclusions" EXACT EXCLUDE [DOID:0110633]
synonym: "early-onset desmin-related myopathy" EXACT EXCLUDE [DOID:0110633]
synonym: "Eichsfeld type congenital muscular dystrophy" EXACT [DOID:0110633]
synonym: "MDRS1" EXACT [DOID:0110633]
synonym: "minicore myopathy, Severe classic form" RELATED [OMIM:602771]
synonym: "multicore myopathy, Severe classic form" RELATED [OMIM:602771]
synonym: "multiminicore disease, Severe classic form" RELATED [OMIM:602771]
synonym: "muscular dystrophy, congenital, Eichsfeld type" RELATED [OMIM:602771]
synonym: "muscular dystrophy, congenital, merosin-positive, with early spine rigidity" RELATED [OMIM:602771]
synonym: "myopathy, Sepn1-related" RELATED [OMIM:602771]
synonym: "rigid spine muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:602771]
synonym: "rigid spine muscular dystrophy 1; RSMD1" RELATED [OMIM:602771]
synonym: "rigid spine muscular dystrophy type 1" EXACT [DOID:0110633, MONDORULE:1, OMIM:602771]
synonym: "rigid spine syndrome" EXACT [DOID:0110633, OMIM:602771]
synonym: "rigid spine syndrome caused by mutation in SELENON" EXACT [MONDO:design_pattern]
synonym: "RSMD1" EXACT [DOID:0110633, MONDO:Lexical, OMIM:602771]
synonym: "RSS" EXACT [DOID:0110633]
synonym: "SELENON rigid spine syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEPN1-related myopathy" EXACT [DOID:0110633]
synonym: "severe classic form minicore myopathy" EXACT [DOID:0110633]
synonym: "severe classic form multicore myopathy" EXACT [DOID:0110633]
synonym: "severe classic form multiminicore disease" EXACT [DOID:0110633]
xref: DOID:0110633 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="DOID:0110633"}
xref: ICD10:G71.8 {source="DOID:0110633"}
xref: NCIT:C126691 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.79/0.38"}
xref: OMIM:602771 {source="DOID:0110633", source="MONDO:equivalentTo"}
xref: SCTID:240063002 {source="MONDO:equivalentTo"}
xref: UMLS:C0410180 {source="NCIT:C126691", source="OMIM:602771", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018948 {source="ORDO:598/btnt"} ! multiminicore myopathy
is_a: MONDO:0019951 {source="MONDO:Redundant", source="MONDOLEX:0011271"} ! rigid spine syndrome
is_a: MONDO:0100100 ! SELENON-related myopathy
property_value: exactMatch DOID:0110633
property_value: exactMatch http://identifiers.org/omim/602771
property_value: exactMatch http://identifiers.org/snomedct/240063002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410180
property_value: exactMatch NCIT:C126691

[Term]
id: MONDO:0011272
name: retinitis pigmentosa 25
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010384"}
synonym: "EYS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 25" EXACT [MONDO:Lexical, OMIM:602772]
synonym: "retinitis pigmentosa 25; RP25" RELATED [OMIM:602772]
synonym: "retinitis pigmentosa caused by mutation in EYS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 25" EXACT [DOID:0110384, MONDORULE:2, OMIM:602772]
synonym: "RP 25" RELATED [GARD:0010384]
synonym: "RP25" EXACT [DOID:0110384, MONDO:Lexical, OMIM:602772]
xref: DOID:0110384 {source="MONDO:equivalentTo"}
xref: GARD:0010384 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110384"}
xref: MESH:C566425 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602772 {source="MONDO:equivalentTo", source="DOID:0110384"}
xref: UMLS:C1864446 {source="OMIM:602772", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:602772", source="DOID:0110384", source="MESH:C566425", source="MONDO:Redundant", source="OMIM:602772"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110384
property_value: exactMatch http://identifiers.org/mesh/C566425
property_value: exactMatch http://identifiers.org/omim/602772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864446
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25 xsd:anyURI {source="GARD:0010384"}

[Term]
id: MONDO:0011273
name: H syndrome
def: "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." [Orphanet:168569]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:168569"}
synonym: "Asrar Facharzt Haque syndrome" EXACT [MONDO:0021937]
synonym: "Faisalabad histiocytosis" RELATED [OMIM:602782]
synonym: "H syndrome" EXACT [OMIM:602782]
synonym: "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness" RELATED [OMIM:602782]
synonym: "histiocytosis with Joint contractures and sensorineural deafness" RELATED [OMIM:602782]
synonym: "histiocytosis-lymphadenopathy plus syndrome" RELATED [OMIM:602782]
synonym: "HJCD" RELATED [GARD:0010239]
synonym: "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" RELATED [OMIM:602782]
synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" RELATED [OMIM:602782]
synonym: "Rosai-Dorfman disease, familial" RELATED [OMIM:602782]
synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782]
synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239]
xref: GARD:0000581 {source="MONDO:equivalentTo"}
xref: GARD:0010239 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D76.3 {source="ORDO:168569/attributed", source="ORDO:168569/ntbt", source="Orphanet:168569"}
xref: MESH:C535391 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C538322 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="ORDO:168569/e"}
xref: Orphanet:168569 {source="OMIM:602782", source="MONDO:equivalentTo"}
xref: SCTID:711159002 {source="MONDO:kboom-pr-1.00/0.78/6.60", source="MONDO:equivalentTo"}
xref: UMLS:C1864445 {source="OMIM:602782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C2930890 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000581"}
is_a: MONDO:0002977 ! autoimmune disease of the nervous system
is_a: MONDO:0004382 {source="MESH:C535391", source="MESH:C535391/inferred"} ! laryngeal disease
is_a: MONDO:0005147 {source="Orphanet:168569"} ! type 1 diabetes mellitus
is_a: MONDO:0006412 {source="MESH:C535391"} ! sinus histiocytosis with massive lymphadenopathy
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019289 {source="Orphanet:168569"} ! hyperpigmentation of the skin
is_a: MONDO:0019589 {source="Orphanet:168569"} ! syndromic genetic deafness
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C535391
property_value: exactMatch http://identifiers.org/mesh/C538322
property_value: exactMatch http://identifiers.org/omim/602782
property_value: exactMatch http://identifiers.org/snomedct/711159002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930890
property_value: exactMatch Orphanet:168569
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome xsd:anyURI {source="GARD:0000581"}

[Term]
id: MONDO:0011274
name: Muenke syndrome
def: "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." [Orphanet:53271]
subset: gard_rare {source="GARD:0007097"}
subset: ordo_malformation_syndrome {source="Orphanet:53271"}
synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703]
synonym: "MNKES" RELATED [MONDO:Lexical, OMIM:602849]
synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [OMIM:602849]
synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849]
synonym: "Muenke syndrome; MNKES" RELATED [OMIM:602849]
synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097]
xref: DOID:0060703 {source="MONDO:equivalentTo"}
xref: GARD:0007097 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:53271/attributed", source="ORDO:53271/ntbt", source="DOID:0060703", source="Orphanet:53271"}
xref: MESH:C537369 {source="MONDO:equivalentTo", source="ORDO:53271/e", source="DOID:0060703", source="MONDO:ontobio", source="Orphanet:53271"}
xref: NCIT:C84904 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:602849 {source="MONDO:equivalentTo", source="ORDO:53271/e", source="DOID:0060703", source="Orphanet:53271"}
xref: Orphanet:53271 {source="MONDO:equivalentTo", source="DOID:0060703", source="OMIM:602849"}
xref: SCTID:440350001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1864436 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84904", source="ORDO:53271/e", source="DOID:0060703", source="Orphanet:53271", source="OMIM:602849"}
is_a: MONDO:0015338 {source="Orphanet:53271"} ! syndromic craniosynostosis
property_value: exactMatch DOID:0060703
property_value: exactMatch http://identifiers.org/mesh/C537369
property_value: exactMatch http://identifiers.org/omim/602849
property_value: exactMatch http://identifiers.org/snomedct/440350001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864436
property_value: exactMatch NCIT:C84904
property_value: exactMatch Orphanet:53271
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome xsd:anyURI {source="GARD:0007097"}

[Term]
id: MONDO:0011275
name: acromesomelic dysplasia, Maroteaux type
def: "120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms)." [Orphanet:40]
subset: gard_rare {source="GARD:0000507"}
subset: ordo_malformation_syndrome {source="Orphanet:40"}
synonym: "acromesomelic dwarfism Maroteux type" RELATED [GARD:0000507]
synonym: "acromesomelic dysplasia Maroteaux type" RELATED [GARD:0000507]
synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [MONDO:Lexical, OMIM:602875]
synonym: "acromesomelic dysplasia, Maroteaux type; AMDM" RELATED [OMIM:602875]
synonym: "AMDM" RELATED [MONDO:Lexical, OMIM:602875]
synonym: "St. Helena dysplasia" RELATED [OMIM:602875]
xref: DOID:0080050 {source="MONDO:equivalentTo"}
xref: GARD:0000507 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:40/attributed", source="ORDO:40/ntbt", source="Orphanet:40"}
xref: MESH:C535661 {source="MONDO:equivalentTo", source="ORDO:40/e", source="Orphanet:40"}
xref: OMIM:602875 {source="MONDO:equivalentTo", source="ORDO:40/e", source="DOID:0080050", source="Orphanet:40"}
xref: Orphanet:40 {source="OMIM:602875", source="MONDO:equivalentTo"}
xref: SCTID:718559000 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0019696 ! acromesomelic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930970
property_value: exactMatch DOID:0080050
property_value: exactMatch http://identifiers.org/mesh/C535661
property_value: exactMatch http://identifiers.org/omim/602875
property_value: exactMatch http://identifiers.org/snomedct/718559000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864356
property_value: exactMatch Orphanet:40
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type xsd:anyURI {source="GARD:0000507"}

[Term]
id: MONDO:0011276
name: orofacial cleft 2
synonym: "cleft lip with or without cleft palate, nonsyndromic, 2" RELATED [OMIM:602966]
synonym: "OFC2" EXACT [MONDO:Lexical, OMIM:602966]
synonym: "orofacial cleft 2" EXACT [MONDO:Lexical, OMIM:602966]
synonym: "orofacial cleft 2; OFC2" RELATED [OMIM:602966]
xref: MESH:C566419 {source="MONDO:equivalentTo"}
xref: OMIM:602966 {source="MONDO:equivalentTo"}
xref: UMLS:C1864323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602966"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:602966"} ! orofacial cleft
property_value: exactMatch http://identifiers.org/mesh/C566419
property_value: exactMatch http://identifiers.org/omim/602966
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864323

[Term]
id: MONDO:0011277
name: obsolete leukoregulin
synonym: "leukoregulin" EXACT [OMIM:602994]
xref: OMIM:602994 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864303
property_value: exactMatch http://identifiers.org/omim/602994
is_obsolete: true

[Term]
id: MONDO:0011278
name: bile duct cysts
synonym: "bile duct cysts" EXACT [OMIM:603003]
synonym: "choledochal cysts" RELATED [OMIM:603003]
synonym: "choledochocele" RELATED [OMIM:603003]
xref: GARD:0009229 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:603003 {source="MONDO:equivalentTo"}
xref: SCTID:397868007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.03"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008340
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1257797
property_value: exactMatch http://identifiers.org/omim/603003
property_value: exactMatch http://identifiers.org/snomedct/397868007

[Term]
id: MONDO:0011279
name: autosomal recessive nonsyndromic deafness 17
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31." [DOID:0110472, PMID:15293785]
synonym: "autosomal recessive deafness 17" EXACT [DOID:0110472]
synonym: "autosomal recessive nonsyndromic deafness type 17" EXACT [DOID:0110472, MONDORULE:2]
synonym: "deafness, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:603010]
synonym: "deafness, autosomal recessive 17; DFNB17" RELATED [OMIM:603010]
synonym: "DFNB17" EXACT [DOID:0110472, MONDO:Lexical, OMIM:603010]
xref: DOID:0110472 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110472"}
xref: MESH:C566418 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603010 {source="MONDO:equivalentTo", source="DOID:0110472"}
xref: UMLS:C1864276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603010"}
is_a: MONDO:0019588 {source="DC-OMIM:603010", source="DOID:0110472", source="OMIM:603010"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110472
property_value: exactMatch http://identifiers.org/mesh/C566418
property_value: exactMatch http://identifiers.org/omim/603010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864276

[Term]
id: MONDO:0011280
name: SCZD6
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21." [DOID:0070082]
synonym: "schizophrenia 6" RELATED [MONDO:Lexical, OMIM:603013]
synonym: "schizophrenia 6; SCZD6" RELATED [OMIM:603013]
synonym: "schizophrenia susceptibility locus, chromosome 8P-related" RELATED [OMIM:603013]
synonym: "SCZD6" EXACT [DOID:0070082, MONDO:Lexical, OMIM:603013]
xref: DOID:0070082 {source="MONDO:equivalentTo"}
xref: OMIM:603013 {source="MONDO:equivalentTo", source="DOID:0070082"}
xref: UMLS:C1864275 {source="OMIM:603013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:603013", source="DOID:0070082"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070082
property_value: exactMatch http://identifiers.org/omim/603013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864275

[Term]
id: MONDO:0011281
name: congenital myasthenic syndrome 5
def: "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." [NCIT:C129304]
synonym: "CMS Ic" EXACT [DOID:0110667]
synonym: "Cms Ic" RELATED [OMIM:603034]
synonym: "Cms Ic, formerly" RELATED [OMIM:603034]
synonym: "CMS5" EXACT [DOID:0110667]
synonym: "CMS5" RELATED [MONDO:Lexical, OMIM:603034]
synonym: "COLQ congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital myasthenic syndrome caused by mutation in COLQ" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome Engel type" EXACT [DOID:0110667]
synonym: "congenital myasthenic syndrome type 5" EXACT [DOID:0110667, MONDORULE:1]
synonym: "congenital myasthenic syndrome type Ic" EXACT [DOID:0110667, OMIM:603034]
synonym: "congenital myasthenic syndrome type Ic, formerly" RELATED [OMIM:603034]
synonym: "EAD" EXACT [DOID:0110667]
synonym: "end plate acetylcholinesterase deficiency" EXACT [DOID:0110667]
synonym: "endplate acetylcholinesterase deficiency" RELATED [OMIM:603034]
synonym: "Engel congenital myasthenic syndrome" EXACT [DOID:0110667, OMIM:603034]
synonym: "myasthenic syndrome, congenital, 5" RELATED [MONDO:Lexical, OMIM:603034]
synonym: "myasthenic syndrome, congenital, 5; CMS5" RELATED [OMIM:603034]
synonym: "myasthenic syndrome, congenital, Engel type" RELATED [OMIM:603034]
synonym: "myasthenic syndrome, congenital, type 5" EXACT [MONDORULE:1, OMIM:603034]
xref: DOID:0110667 {source="MONDO:equivalentTo"}
xref: MESH:C566415 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129304 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:603034 {source="DOID:0110667", source="MONDO:equivalentTo"}
xref: UMLS:C1864233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129304", source="OMIM:603034"}
is_a: MONDO:0020346 {source="ORDO:98915/btnt"} ! synaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110667
property_value: exactMatch http://identifiers.org/mesh/C566415
property_value: exactMatch http://identifiers.org/omim/603034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864233
property_value: exactMatch NCIT:C129304

[Term]
id: MONDO:0011282
name: tumor suppressor gene on chromosome 11
synonym: "Nonsmall cell lung cancer suppressor" RELATED [OMIM:603040]
synonym: "Tsg11" RELATED [OMIM:603040]
synonym: "tumor suppressor gene on chromosome 11" EXACT [OMIM:603040]
synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2, OMIM:603040]
xref: OMIM:603040 {source="MONDO:equivalentTo"}
xref: UMLS:C1864232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603040"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/603040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864232

[Term]
id: MONDO:0011283
name: mitochondrial DNA depletion syndrome 1
synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" RELATED [MONDO:Lexical, OMIM:603041]
synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type); MTDPS1" RELATED [OMIM:603041]
synonym: "mitochondrial DNA depletion syndrome type 1" EXACT [DOID:0080119, MONDORULE:1]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related" RELATED [OMIM:603041]
synonym: "Mngie, tymp-related" RELATED [OMIM:603041]
synonym: "MTDPS1" RELATED [MONDO:Lexical, OMIM:603041]
synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [OMIM:603041]
synonym: "Polip syndrome" RELATED [OMIM:603041]
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" RELATED [OMIM:603041]
xref: DOID:0080119 {source="MONDO:equivalentTo"}
xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"}
is_a: MONDO:0018158 {source="DC-OMIM:603041", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0872218
property_value: exactMatch DOID:0080119
property_value: exactMatch http://identifiers.org/omim/603041

[Term]
id: MONDO:0011284
name: astigmatism (disease)
def: "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" [MESH:D001251]
synonym: "astigmatism" EXACT [MONDO:ambiguous, OMIM:603047]
xref: COHD:378424 {source="MONDO:equivalentTo"}
xref: CSP:1116-1831 {source="DOID:11782"}
xref: DOID:11782 {source="MONDO:equivalentTo"}
xref: HP:0000483 {source="MONDO:otherHierarchy", source="ontobio", source="DOID:11782"}
xref: ICD10:H52.2 {source="DOID:11782"}
xref: ICD10:H52.20 {source="DOID:11782"}
xref: ICD9:367.2 {source="DOID:11782"}
xref: ICD9:367.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:11782"}
xref: MESH:D001251 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:11782"}
xref: OMIM:603047 {source="MONDO:equivalentTo", source="DOID:11782"}
xref: SCTID:82649003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11782"}
xref: UMLS:C0004106 {source="OMIM:603047", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:11782"}
is_a: MONDO:0004892 {source="DOID:11782", source="MESH:D001251", source="linkedlifedata"} ! refractive error
property_value: closeMatch http://identifiers.org/snomedct/155134009
property_value: closeMatch http://identifiers.org/snomedct/193626006
property_value: closeMatch http://identifiers.org/snomedct/193627002
property_value: exactMatch DOID:11782
property_value: exactMatch http://identifiers.org/mesh/D001251
property_value: exactMatch http://identifiers.org/omim/603047
property_value: exactMatch http://identifiers.org/snomedct/82649003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004106

[Term]
id: MONDO:0011285
name: age related macular degeneration 1
def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." [DOID:0110014, PMID:14570714, PMID:9715689]
synonym: "age related macular degeneration type 1" EXACT [DOID:0110014, MONDORULE:1]
synonym: "age related maculopathy 1" EXACT [DOID:0110014]
synonym: "ARMD1" EXACT [DOID:0110014, MONDO:Lexical, OMIM:603075]
synonym: "macular degeneration, age-related, 1" RELATED [MONDO:Lexical, OMIM:603075]
synonym: "macular degeneration, age-related, 1; ARMD1" RELATED [OMIM:603075]
synonym: "macular Degeneration, age-related, type 1" EXACT [MONDORULE:1, OMIM:603075]
synonym: "maculopathy, age-related, 1" RELATED [OMIM:603075]
xref: DOID:0110014 {source="MONDO:equivalentTo"}
xref: MESH:C566411 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603075 {source="MONDO:equivalentTo", source="DOID:0110014"}
xref: UMLS:C1864205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603075"}
is_a: MONDO:0005150 {source="DC-OMIM:603075", source="DOID:0110014", source="OMIM:603075"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110014
property_value: exactMatch http://identifiers.org/mesh/C566411
property_value: exactMatch http://identifiers.org/omim/603075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864205

[Term]
id: MONDO:0011286
name: autosomal recessive nonsyndromic deafness 13
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36." [DOID:0110468, PMID:9781028]
synonym: "autosomal recessive deafness 13" EXACT [DOID:0110468]
synonym: "autosomal recessive nonsyndromic deafness type 13" EXACT [DOID:0110468, MONDORULE:2]
synonym: "deafness, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:603098]
synonym: "deafness, autosomal recessive 13; DFNB13" RELATED [OMIM:603098]
synonym: "DFNB13" EXACT [DOID:0110468, MONDO:Lexical, OMIM:603098]
xref: DOID:0110468 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110468"}
xref: MESH:C566410 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603098 {source="DOID:0110468", source="MONDO:equivalentTo"}
xref: UMLS:C1864199 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603098"}
is_a: MONDO:0019588 {source="DC-OMIM:603098", source="DOID:0110468", source="OMIM:603098"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110468
property_value: exactMatch http://identifiers.org/mesh/C566410
property_value: exactMatch http://identifiers.org/omim/603098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864199

[Term]
id: MONDO:0011287
name: craniosynostosis-anal anomalies-porokeratosis syndrome
def: "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." [Orphanet:85199]
subset: ordo_malformation_syndrome {source="Orphanet:85199"}
synonym: "CAP syndrome" EXACT [Orphanet:85199]
synonym: "Cap syndrome" RELATED [OMIM:603116]
synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199]
synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506]
synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116]
xref: GARD:0009506 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="Orphanet:85199", source="ORDO:85199/attributed", source="ORDO:85199/ntbt"}
xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:85199/e"}
xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="ORDO:85199/e"}
xref: Orphanet:85199 {source="OMIM:603116", source="MONDO:equivalentTo"}
xref: SCTID:720812002 {source="MONDO:kboom-pr-1.00/0.75/7.41", source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:85199"} ! syndromic craniosynostosis
is_a: MONDO:0019709 {source="Orphanet:85199"} ! cleidocranial dysplasia and isolated cranial ossification defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864186
property_value: exactMatch http://identifiers.org/mesh/C536789
property_value: exactMatch http://identifiers.org/omim/603116
property_value: exactMatch http://identifiers.org/snomedct/720812002
property_value: exactMatch Orphanet:85199

[Term]
id: MONDO:0011288
name: spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal
synonym: "spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal" RELATED [OMIM:603117]
xref: MESH:C566409 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603117 {source="MONDO:equivalentTo"}
xref: UMLS:C1864185 {source="OMIM:603117", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566409/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566409
property_value: exactMatch http://identifiers.org/omim/603117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864185

[Term]
id: MONDO:0011289
name: apraxia of eyelid opening
synonym: "apraxia of eyelid opening" EXACT [OMIM:603119]
xref: OMIM:603119 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864184
property_value: exactMatch http://identifiers.org/omim/603119

[Term]
id: MONDO:0011290
name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" EXACT [OMIM:603133]
xref: MESH:C566408 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603133 {source="MONDO:equivalentTo"}
xref: UMLS:C1864183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603133"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566408
property_value: exactMatch http://identifiers.org/omim/603133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864183

[Term]
id: MONDO:0011291
name: congenital disorder of glycosylation type 1C
def: "(1p31.3)." [Orphanet:79320]
subset: ordo_disease {source="Orphanet:79320"}
synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ALG6-CDG" RELATED [Orphanet:79320]
synonym: "ALG6-CDG (CDG-Ic)" RELATED [GARD:0009829]
synonym: "carbohydrate deficient glycoprotein syndrome type Ic" EXACT [Orphanet:79320]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1C" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V (formerly)" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V, formerly" RELATED [OMIM:603147]
synonym: "CDG 1C" RELATED [GARD:0009829]
synonym: "CDG Ic" RELATED [OMIM:603147]
synonym: "CDG syndrome type Ic" EXACT [Orphanet:79320]
synonym: "CDG-Ic" EXACT [Orphanet:79320]
synonym: "CDG1C" EXACT [MONDO:Lexical, OMIM:603147, Orphanet:79320]
synonym: "CDGIc" EXACT [NCIT:C126869]
synonym: "CDGS5 (formerly)" RELATED [GARD:0009829]
synonym: "congenital disorder of glycosylation caused by mutation in ALG6" EXACT [MONDO:design_pattern]
synonym: "congenital disorder of glycosylation type 1c" EXACT [Orphanet:79320]
synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320]
synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147]
synonym: "congenital disorder of glycosylation, type Ic; CDG1C" RELATED [OMIM:603147]
synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320]
xref: GARD:0009829 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79320/attributed", source="ORDO:79320/ntbt", source="Orphanet:79320"}
xref: MESH:C535741 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126869 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.33"}
xref: OMIM:603147 {source="MONDO:equivalentTo", source="ORDO:79320/e", source="Orphanet:79320"}
xref: Orphanet:79320 {source="OMIM:603147", source="MONDO:equivalentTo"}
xref: SCTID:709412006 {source="MONDO:equivalentTo"}
xref: UMLS:C2930997 {source="OMIM:603147", source="MONDO:equivalentTo", source="Orphanet:79320", source="NCIT:C126869"}
is_a: MONDO:0005500 {source="DC-OMIM:603147", source="MONDOLEX:0011291"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation
is_a: MONDO:0018287 {source="Orphanet:79320"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018291 {source="Orphanet:79320"} ! congenital disorder of glycosylation with intestinal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864178
property_value: exactMatch http://identifiers.org/mesh/C535741
property_value: exactMatch http://identifiers.org/omim/603147
property_value: exactMatch http://identifiers.org/snomedct/709412006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930997
property_value: exactMatch NCIT:C126869
property_value: exactMatch Orphanet:79320

[Term]
id: MONDO:0011292
name: dermatitis, atopic
synonym: "Atod" RELATED [OMIM:603165]
synonym: "dermatitis, atopic" EXACT [OMIM:603165]
synonym: "dermatitis, Atopic, 1" RELATED [OMIM:603165]
synonym: "eczema, Atopic" RELATED [OMIM:603165]
xref: COHD:133834 {source="MONDO:equivalentTo"}
xref: OMIM:603165 {source="MONDO:equivalentTo"}
is_a: MONDO:0004980 {source="DC-OMIM:603165", source="OMIM:603165"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011615
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864155
property_value: exactMatch http://identifiers.org/omim/603165

[Term]
id: MONDO:0011293
name: Homocysteinemia
subset: gard_rare {source="GARD:0008230"}
synonym: "Homocysteinemia" EXACT [OMIM:603174]
synonym: "hyperhomocysteinemia" RELATED [OMIM:603174]
xref: GARD:0008230 {source="MONDO:equivalentTo"}
xref: OMIM:603174 {source="MONDO:equivalentTo"}
xref: UMLS:C3495426 {source="MONDO:equivalentTo", source="OMIM:603174"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864154
property_value: exactMatch http://identifiers.org/omim/603174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia xsd:anyURI {source="GARD:0008230"}

[Term]
id: MONDO:0011294
name: SCZD5
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26." [DOID:0070081]
synonym: "schizophrenia 5" RELATED [MONDO:Lexical, OMIM:603175]
synonym: "schizophrenia 5 with or without an affective disorder" RELATED [OMIM:603175]
synonym: "schizophrenia 5; SCZD5" RELATED [OMIM:603175]
synonym: "schizophrenia susceptibility locus, chromosome 6Q-related" RELATED [OMIM:603175]
synonym: "SCZD5" EXACT [DOID:0070081, MONDO:Lexical, OMIM:603175]
xref: DOID:0070081 {source="MONDO:equivalentTo"}
xref: OMIM:603175 {source="MONDO:equivalentTo", source="DOID:0070081"}
xref: UMLS:C1864153 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603175"}
is_a: MONDO:0005090 {source="DC-OMIM:603175", source="DOID:0070081"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070081
property_value: exactMatch http://identifiers.org/omim/603175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864153

[Term]
id: MONDO:0011295
name: SCZD7
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32." [DOID:0070083]
synonym: "schizophrenia 7" RELATED [MONDO:Lexical, OMIM:603176]
synonym: "schizophrenia 7 with or without an affective disorder" RELATED [OMIM:603176]
synonym: "schizophrenia 7; SCZD7" RELATED [OMIM:603176]
synonym: "schizophrenia susceptibility locus, chromosome 13Q-related" RELATED [OMIM:603176]
synonym: "SCZD7" EXACT [DOID:0070083, MONDO:Lexical, OMIM:603176]
xref: DOID:0070083 {source="MONDO:equivalentTo"}
xref: OMIM:603176 {source="MONDO:equivalentTo", source="DOID:0070083"}
is_a: MONDO:0005090 {source="DC-OMIM:603176", source="DOID:0070083"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864152
property_value: exactMatch DOID:0070083
property_value: exactMatch http://identifiers.org/omim/603176

[Term]
id: MONDO:0011296
name: Meckel syndrome, type 2
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0008743"}
synonym: "Meckel syndrome 2" RELATED [DOID:0070116]
synonym: "Meckel syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type 2" RELATED [GARD:0008743]
synonym: "Meckel syndrome, type 2" EXACT [MONDO:Lexical, OMIM:603194]
synonym: "Meckel syndrome, type 2; MKS2" RELATED [OMIM:603194]
synonym: "Meckel-Gruber syndrome, type 2" EXACT [DOID:0070116, OMIM:603194]
synonym: "MKS2" EXACT [DOID:0070116, MONDO:Lexical, OMIM:603194]
synonym: "TMEM216 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070116 {source="MONDO:equivalentTo"}
xref: GARD:0008743 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070116"}
xref: MESH:C536131 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603194 {source="MONDO:equivalentTo", source="DOID:0070116"}
xref: UMLS:C1864148 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603194"}
is_a: MONDO:0018921 {source="DC-OMIM:603194", source="DOID:0070116", source="MONDO:Redundant", source="OMIM:603194"} ! Meckel syndrome
property_value: exactMatch DOID:0070116
property_value: exactMatch http://identifiers.org/mesh/C536131
property_value: exactMatch http://identifiers.org/omim/603194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864148
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 xsd:anyURI {source="GARD:0008743"}

[Term]
id: MONDO:0011297
name: autosomal dominant nocturnal frontal lobe epilepsy 2
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24." [DOID:0060683, PMID:9758605]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 2" EXACT [DOID:0060683, MONDORULE:1]
synonym: "ENFL2" EXACT [DOID:0060683, MONDO:Lexical, OMIM:603204]
synonym: "epilepsy, nocturnal frontal lobe, 2" RELATED [MONDO:Lexical, OMIM:603204]
synonym: "epilepsy, nocturnal frontal lobe, 2; ENFL2" RELATED [OMIM:603204]
synonym: "nocturnal frontal lobe epilepsy 2" EXACT [DOID:0060683]
xref: DOID:0060683 {source="MONDO:equivalentTo"}
xref: MESH:C566400 {source="MONDO:equivalentTo"}
xref: OMIM:603204 {source="DOID:0060683", source="MONDO:equivalentTo"}
xref: UMLS:C1864125 {source="NCBI:mim2gene_medline", source="OMIM:603204", source="MONDO:equivalentTo"}
is_a: MONDO:0000030 {source="DC-OMIM:603204", source="OMIM:603204"} ! epilepsy, nocturnal frontal lobe
is_a: MONDO:0020300 {source="DOID:0060683", source="MONDOLEX:0011297"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: exactMatch DOID:0060683
property_value: exactMatch http://identifiers.org/mesh/C566400
property_value: exactMatch http://identifiers.org/omim/603204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864125

[Term]
id: MONDO:0011298
name: SCZD8
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p." [DOID:0070084]
synonym: "schizophrenia 8" RELATED [MONDO:Lexical, OMIM:603206]
synonym: "schizophrenia 8 with or without an affective disorder" RELATED [OMIM:603206]
synonym: "schizophrenia 8; SCZD8" RELATED [OMIM:603206]
synonym: "schizophrenia susceptibility locus, chromosome 18-related" RELATED [OMIM:603206]
synonym: "SCZD8" EXACT [DOID:0070084, MONDO:Lexical, OMIM:603206]
xref: DOID:0070084 {source="MONDO:equivalentTo"}
xref: OMIM:603206 {source="MONDO:equivalentTo", source="DOID:0070084"}
xref: UMLS:C1864124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603206"}
is_a: MONDO:0005090 {source="DC-OMIM:603206", source="DOID:0070084"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070084
property_value: exactMatch http://identifiers.org/omim/603206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864124

[Term]
id: MONDO:0011299
name: Huntington disease-like 1
def: "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:157941"}
synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [DOID:0090103]
synonym: "early-onset prion disease with prominent psychiatric features" EXACT [DOID:0090103, Orphanet:157941]
synonym: "HDL1" EXACT [DOID:0090103, MONDO:Lexical, OMIM:603218, Orphanet:157941]
synonym: "HLN1" EXACT [DOID:0090103]
synonym: "Huntington disease-like 1" EXACT [MONDO:Lexical, OMIM:603218]
synonym: "Huntington disease-like 1; HDL1" RELATED [OMIM:603218]
synonym: "Huntington disease-like type 1" EXACT [DOID:0090103, MONDORULE:1, OMIM:603218, Orphanet:157941]
synonym: "Huntington's disease-like 1" RELATED [DOID:0090103]
synonym: "Huntington-like neurodegenerative disorder 1" EXACT [DOID:0090103]
synonym: "Huntington-like neurodegenerative disorder 1" RELATED [OMIM:603218]
synonym: "Huntington-like neurodegenerative disorder, autosomal dominant" RELATED [OMIM:603218]
synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXACT [MONDO:design_pattern]
synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218]
synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090103 {source="MONDO:equivalentTo"}
xref: ICD10:G10 {source="Orphanet:157941", source="ORDO:157941/attributed", source="ORDO:157941/ntbt", source="DOID:0090103"}
xref: MESH:C566398 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603218 {source="Orphanet:157941", source="ORDO:157941/e", source="MONDO:equivalentTo", source="DOID:0090103"}
xref: Orphanet:157941 {source="MONDO:equivalentTo", source="OMIM:603218", source="DOID:0090103"}
xref: UMLS:C1864112 {source="Orphanet:157941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603218", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000167 {source="DC-OMIM:603218"} ! Huntington disease and related disorders
is_a: MONDO:0017234 {source="Orphanet:157941"} ! inherited prion disease
is_a: MONDO:0017646 {source="MONDO:Redundant", source="Orphanet:157941"} ! neurodegenerative disease with chorea
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch DOID:0090103
property_value: exactMatch http://identifiers.org/mesh/C566398
property_value: exactMatch http://identifiers.org/omim/603218
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864112
property_value: exactMatch Orphanet:157941

[Term]
id: MONDO:0011300
name: MYP3
synonym: "myopia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603221]
synonym: "myopia 3, autosomal dominant; MYP3" RELATED [OMIM:603221]
synonym: "MYP3" EXACT [MONDO:Lexical, OMIM:603221]
xref: MESH:C566397 {source="MONDO:equivalentTo"}
xref: OMIM:603221 {source="MONDO:equivalentTo"}
xref: UMLS:C1864111 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603221"}
is_a: MONDO:0001384 {source="DC-OMIM:603221", source="MESH:C566397", source="OMIM:603221"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566397
property_value: exactMatch http://identifiers.org/omim/603221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864111

[Term]
id: MONDO:0011301
name: pseudohypoparathyroidism type 1B
def: "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." [Orphanet:94089]
subset: gard_rare {source="GARD:0010680"}
subset: ordo_disease {source="Orphanet:94089"}
synonym: "Php 1B" RELATED [OMIM:603233]
synonym: "PHP1B" RELATED [MONDO:Lexical, OMIM:603233]
synonym: "pseudohypoparathyroidism type IB" RELATED [DOID:0080222]
synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233]
synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233]
synonym: "pseudohypoparathyroidism, type IB; PHP1B" RELATED [OMIM:603233]
xref: DOID:0080222 {source="MONDO:equivalentTo"}
xref: GARD:0010680 {source="MONDO:equivalentTo"}
xref: ICD10:E20.1 {source="MONDO:subClassOf", source="Orphanet:94089", source="ORDO:94089/attributed", source="ORDO:94089/ntbt"}
xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:94089/e"}
xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="ORDO:94089/e"}
xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"}
xref: UMLS:C2932715 {source="Orphanet:94089", source="MONDO:equivalentTo", source="ORDO:94089/e"}
is_a: MONDO:0018700 {source="Orphanet:94089"} ! pseudohypoparathyroidism without Albright hereditary osteodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864100
property_value: exactMatch DOID:0080222
property_value: exactMatch http://identifiers.org/mesh/C548075
property_value: exactMatch http://identifiers.org/omim/603233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932715
property_value: exactMatch Orphanet:94089
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b xsd:anyURI {source="GARD:0010680"}

[Term]
id: MONDO:0011302
name: type 1 diabetes mellitus 17
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25." [DOID:0110754, PMID:9788970]
synonym: "diabetes mellitus, insulin-dependent, 17" RELATED [MONDO:Lexical, OMIM:603266]
synonym: "diabetes mellitus, insulin-dependent, 17; IDDM17" RELATED [OMIM:603266]
synonym: "IDDM17" EXACT [DOID:0110754, MONDO:Lexical, OMIM:603266]
synonym: "insulin-dependent diabetes mellitus 17" EXACT [DOID:0110754, OMIM:603266]
xref: DOID:0110754 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110754"}
xref: MESH:C566395 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603266 {source="DOID:0110754", source="MONDO:equivalentTo"}
xref: UMLS:C1864068 {source="OMIM:603266", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:603266", source="DOID:0110754", source="MESH:C566395", source="MONDOLEX:0011302"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110754
property_value: exactMatch http://identifiers.org/mesh/C566395
property_value: exactMatch http://identifiers.org/omim/603266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864068

[Term]
id: MONDO:0011303
name: focal segmental glomerulosclerosis 1
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_histopathological_subtype {source="Orphanet:93213"}
synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213]
synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [Orphanet:93213]
synonym: "focal segmental glomerulosclerosis 1" EXACT [MONDO:Lexical, OMIM:603278]
synonym: "focal segmental glomerulosclerosis 1; FSGS1" RELATED [OMIM:603278]
synonym: "focal segmental glomerulosclerosis caused by mutation in ACTN4" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDORULE:1, OMIM:603278]
synonym: "FSGS1" EXACT [DOID:0111128, MONDO:Lexical, OMIM:603278]
synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278]
xref: DOID:0111128 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="ORDO:93213/attributed", source="ORDO:93213/ntbt"}
xref: MESH:C538457 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603278 {source="DOID:0111128", source="MONDO:equivalentTo", source="Orphanet:93213"}
xref: Orphanet:93213 {source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="DC-OMIM:603278", source="DOID:0111128", source="MESH:C538457", source="MONDO:Redundant", source="MONDOLEX:0011303", source="OMIM:603278"} ! focal segmental glomerulosclerosis
is_a: MONDO:0019006 {source="MONDOLEX:0011303", source="Orphanet:93213"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017668
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0333497
property_value: exactMatch DOID:0111128
property_value: exactMatch http://identifiers.org/mesh/C538457
property_value: exactMatch http://identifiers.org/omim/603278
property_value: exactMatch Orphanet:93213

[Term]
id: MONDO:0011304
name: cerebral cavernous malformation 2
def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCM2" EXACT [DOID:0060670, MONDO:Lexical, OMIM:603284]
synonym: "CCM2 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cerebral cavernous malformation type 2" EXACT [DOID:0060670, MONDORULE:1]
synonym: "cerebral cavernous malformations 2" RELATED [MONDO:Lexical, OMIM:603284]
synonym: "cerebral cavernous malformations 2; CCM2" RELATED [OMIM:603284]
synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1, OMIM:603284]
synonym: "familial cerebral cavernous malformation caused by mutation in CCM2" EXACT [MONDO:design_pattern]
xref: DOID:0060670 {source="MONDO:equivalentTo"}
xref: ICD10:Q28.3 {source="DOID:0060670"}
xref: MESH:C566394 {source="MONDO:equivalentTo"}
xref: OMIM:603284 {source="DOID:0060670", source="MONDO:equivalentTo"}
xref: UMLS:C1864041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603284"}
is_a: MONDO:0007291 {source="MONDO:Redundant", source="MONDOLEX:0011304", source="ORDO:221061/btnt"} ! familial cerebral cavernous malformation
property_value: exactMatch DOID:0060670
property_value: exactMatch http://identifiers.org/mesh/C566394
property_value: exactMatch http://identifiers.org/omim/603284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864041

[Term]
id: MONDO:0011305
name: cerebral cavernous malformation 3
alt_id: MONDO:0000821
def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCM3" EXACT [DOID:0060671, MONDO:Lexical, OMIM:603285]
synonym: "cerebral cavernous malformation type 3" EXACT [DOID:0060671, MONDORULE:1]
synonym: "cerebral cavernous malformations 3" EXACT [MONDO:Lexical, OMIM:603285]
synonym: "cerebral cavernous malformations 3; CCM3" RELATED [OMIM:603285]
synonym: "cerebral cavernous malformations type 3" EXACT [MONDORULE:1, OMIM:603285]
synonym: "familial cerebral cavernous malformation caused by mutation in PDCD10" EXACT [MONDO:design_pattern]
synonym: "PDCD10 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060671 {source="MONDO:equivalentTo"}
xref: ICD10:Q28.3 {source="DOID:0060671"}
xref: MESH:C566393 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603285 {source="MONDO:equivalentTo"}
xref: UMLS:C1864040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603285"}
is_a: MONDO:0007291 {source="MONDO:Redundant", source="MONDOLEX:0000821", source="MONDOLEX:0011305", source="ORDO:221061/btnt"} ! familial cerebral cavernous malformation
property_value: exactMatch DOID:0060671
property_value: exactMatch http://identifiers.org/mesh/C566393
property_value: exactMatch http://identifiers.org/omim/603285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864040

[Term]
id: MONDO:0011306
name: muscular dystrophy, congenital, with cerebellar atrophy
synonym: "muscular dystrophy, congenital, with cerebellar atrophy" EXACT [OMIM:603323]
xref: MESH:C566392 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603323 {source="MONDO:equivalentTo"}
xref: UMLS:C1864028 {source="OMIM:603323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566392/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566392
property_value: exactMatch http://identifiers.org/omim/603323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864028

[Term]
id: MONDO:0011307
name: SCZD2
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21." [DOID:0070078]
synonym: "schizophrenia 2" RELATED [MONDO:Lexical, OMIM:603342]
synonym: "schizophrenia 2; SCZD2" RELATED [OMIM:603342]
synonym: "schizophrenia susceptibility locus, chromosome 11Q-related" RELATED [OMIM:603342]
synonym: "SCZD2" EXACT [DOID:0070078, MONDO:Lexical, OMIM:603342]
xref: DOID:0070078 {source="MONDO:equivalentTo"}
xref: OMIM:603342 {source="DOID:0070078", source="MONDO:equivalentTo"}
xref: UMLS:C1864010 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603342"}
is_a: MONDO:0005090 {source="DC-OMIM:603342", source="DOID:0070078"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070078
property_value: exactMatch http://identifiers.org/omim/603342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864010

[Term]
id: MONDO:0011308
name: gracile syndrome
def: "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." [Orphanet:53693]
subset: gard_rare
subset: ordo_disease {source="Orphanet:53693"}
synonym: "Fellman disease" EXACT [Orphanet:53693]
synonym: "Fellman syndrome" RELATED [GARD:0000001, OMIM:603358]
synonym: "Finnish lactic acidosis with hepatic hemosiderosis" RELATED [GARD:0000001]
synonym: "Finnish lethal neonatal metabolic syndrome" RELATED [GARD:0000001, OMIM:603358]
synonym: "FLNMS" RELATED [GARD:0000001]
synonym: "gracile syndrome" EXACT [OMIM:603358]
synonym: "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693]
synonym: "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693]
synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" RELATED [OMIM:603358]
synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death" RELATED [GARD:0000001]
synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358]
xref: GARD:0000001 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:53693/attributed", source="ORDO:53693/ntbt", source="Orphanet:53693"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537934 {source="MONDO:equivalentTo", source="ORDO:53693/e", source="MONDO:ontobio", source="Orphanet:53693"}
xref: OMIM:603358 {source="GARD:0000001", source="MONDO:equivalentTo", source="ORDO:53693/e", source="Orphanet:53693"}
xref: Orphanet:53693 {source="GARD:0000001", source="OMIM:603358", source="MONDO:equivalentTo"}
xref: SCTID:703388005 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
xref: UMLS:C1864002 {source="GARD:0000001", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:603358", source="MONDO:equivalentTo", source="ORDO:53693/e", source="Orphanet:53693"}
is_a: MONDO:0017718 {source="Orphanet:53693"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: exactMatch http://identifiers.org/mesh/C537934
property_value: exactMatch http://identifiers.org/omim/603358
property_value: exactMatch http://identifiers.org/snomedct/703388005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864002
property_value: exactMatch Orphanet:53693

[Term]
id: MONDO:0011309
name: familial gestational hyperthyroidism
subset: ordo_disease {source="Orphanet:99819"}
synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373]
xref: ICD10:E05.8 {source="ORDO:99819/attributed", source="ORDO:99819/ntbt", source="Orphanet:99819"}
xref: ICD9:242.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:648.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566384 {source="MONDO:equivalentTo", source="ORDO:99819/e", source="MONDO:ontobio", source="Orphanet:99819"}
xref: OMIM:603373 {source="MONDO:equivalentTo", source="ORDO:99819/e", source="Orphanet:99819"}
xref: Orphanet:99819 {source="MONDO:equivalentTo", source="OMIM:603373"}
xref: SCTID:703309000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1863959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99819/e", source="OMIM:603373", source="Orphanet:99819"}
is_a: MONDO:0004425 {source="Orphanet:99819"} ! hyperthyroidism
is_a: MONDO:0015512 {source="Orphanet:99819"} ! genetic hypertension
is_a: MONDO:0024664 ! hypertension, pregnancy-induced
property_value: exactMatch http://identifiers.org/mesh/C566384
property_value: exactMatch http://identifiers.org/omim/603373
property_value: exactMatch http://identifiers.org/snomedct/703309000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863959
property_value: exactMatch Orphanet:99819

[Term]
id: MONDO:0011310
name: long chain fatty acids, defect in transport of
synonym: "long chain fatty acids, defect in TRANSPORT OF" RELATED [OMIM:603376]
xref: OMIM:603376 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863958
property_value: exactMatch http://identifiers.org/omim/603376

[Term]
id: MONDO:0011311
name: glaucoma 1, open angle, f
synonym: "glaucoma 1, open angle, f" EXACT [MONDO:Lexical, OMIM:603383]
synonym: "glaucoma 1, open angle, F; GLC1F" RELATED [OMIM:603383]
synonym: "glaucoma 1, open angle, type F" EXACT [MONDORULE:1, OMIM:603383]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:603383]
synonym: "GLC1F" RELATED [MONDO:Lexical, OMIM:603383]
xref: MESH:C566383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603383 {source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="MESH:C566383"} ! open-angle glaucoma
is_a: MONDO:0020366 ! congenital glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863926
property_value: exactMatch http://identifiers.org/mesh/C566383
property_value: exactMatch http://identifiers.org/omim/603383

[Term]
id: MONDO:0011312
name: thyroid carcinoma, nonmedullary, with or without cell oxyphilia
subset: gard_rare {source="GARD:0008488"}
synonym: "nonmedullary thyroid carcinoma, with or without cell oxyphilia" RELATED [GARD:0008488]
synonym: "TCO" RELATED [OMIM:603386]
synonym: "TCO 1" RELATED [GARD:0008488]
synonym: "TCO1" RELATED [OMIM:603386]
synonym: "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" EXACT [OMIM:603386]
xref: GARD:0008488 {source="MONDO:equivalentTo"}
xref: MESH:C537842 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603386 {source="MONDO:equivalentTo"}
xref: UMLS:C1863925 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603386"}
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: exactMatch http://identifiers.org/mesh/C537842
property_value: exactMatch http://identifiers.org/omim/603386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863925
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia xsd:anyURI {source="GARD:0008488"}

[Term]
id: MONDO:0011313
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meg-PMG-Megacc syndrome" RELATED [OMIM:603387]
synonym: "megalencephaly, mega corpus callosum, and complete lack of motor development" RELATED [OMIM:603387]
synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED [OMIM:603387]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" EXACT [MONDO:Lexical, OMIM:603387]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1" RELATED [OMIM:603387]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" EXACT [MONDORULE:1, OMIM:603387]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" EXACT [MONDO:design_pattern]
synonym: "MPPH1" RELATED [MONDO:Lexical, OMIM:603387]
synonym: "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566381 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603387 {source="MONDO:equivalentTo"}
is_a: MONDO:0019375 {source="DC-OMIM:603387", source="MONDO:Redundant", source="MONDOLEX:0011313", source="OMIM:603387"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863924
property_value: exactMatch http://identifiers.org/mesh/C566381
property_value: exactMatch http://identifiers.org/omim/603387

[Term]
id: MONDO:0011314
name: Graves disease, susceptibility to, 2
subset: predisposition
synonym: "Graves disease, susceptibility to, 2" EXACT [OMIM:603388]
synonym: "Graves disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:603388]
synonym: "Grd2" RELATED [OMIM:603388]
xref: OMIM:603388 {source="MONDO:equivalentTo"}
is_a: MONDO:0005364 {source="DC-OMIM:603388", source="MONDOLEX:0011314"} ! Graves disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863923
property_value: exactMatch http://identifiers.org/omim/603388

[Term]
id: MONDO:0011315
name: Osebold skeletal dysplasia/osteolysis syndrome
synonym: "Osebold skeletal dysplasia/osteolysis syndrome" EXACT [OMIM:603389]
xref: MESH:C566380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603389 {source="MONDO:equivalentTo"}
xref: UMLS:C1863922 {source="OMIM:603389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566380/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566380
property_value: exactMatch http://identifiers.org/omim/603389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863922

[Term]
id: MONDO:0011316
name: osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
synonym: "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" EXACT [OMIM:603393]
xref: MESH:C566378 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603393 {source="MONDO:equivalentTo"}
xref: UMLS:C1863920 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603393"}
is_a: MONDO:0003847 {source="MESH:C566378/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566378
property_value: exactMatch http://identifiers.org/omim/603393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863920

[Term]
id: MONDO:0011317
name: microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects
synonym: "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects" EXACT [OMIM:603394]
xref: MESH:C566377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603394 {source="MONDO:equivalentTo"}
xref: UMLS:C1863919 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603394"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566377
property_value: exactMatch http://identifiers.org/omim/603394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863919

[Term]
id: MONDO:0011318
name: Tonoki syndrome
subset: gard_rare {source="GARD:0010219"}
synonym: "short stature, brachydactyly, nail dysplasia and mental retardation" RELATED [GARD:0010219]
synonym: "Tonoki syndrome" EXACT [OMIM:603396]
xref: GARD:0010219 {source="MONDO:equivalentTo"}
xref: MESH:C536967 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603396 {source="MONDO:equivalentTo"}
xref: UMLS:C1863918 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603396"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536967
property_value: exactMatch http://identifiers.org/omim/603396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863918
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome xsd:anyURI {source="GARD:0010219"}

[Term]
id: MONDO:0011319
name: activator of liver function 1
synonym: "activator of liver function 1" EXACT [MONDO:Lexical, OMIM:603416]
synonym: "activator of liver function 1; ALFN1" RELATED [OMIM:603416]
synonym: "activator of liver function type 1" EXACT [MONDORULE:1, OMIM:603416]
synonym: "ALFN1" RELATED [MONDO:Lexical, OMIM:603416]
synonym: "Half1" RELATED [OMIM:603416]
synonym: "ribosomal Protein L21 pseudogene 1" RELATED [OMIM:603416]
synonym: "ribosomal PROTEIN L21 pseudogene 1; RPL21P1" RELATED [OMIM:603416]
synonym: "RPL21P1" RELATED [OMIM:603416]
xref: OMIM:603416 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863884
property_value: exactMatch http://identifiers.org/omim/603416

[Term]
id: MONDO:0011320
name: radioulnar synostosis-microcephaly-scoliosis syndrome
def: "Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." [Orphanet:3268]
subset: ordo_malformation_syndrome {source="Orphanet:3268"}
synonym: "GiuffrC)-Tsukahara syndrome" EXACT [Orphanet:3268]
synonym: "Giuffre-Tsukahara syndrome" RELATED [OMIM:603438]
synonym: "Giuffré-Tsukahara syndrome" EXACT [Orphanet:3268]
synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" RELATED [OMIM:603438]
synonym: "Tsukahara syndrome" EXACT [Orphanet:3268]
synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED [GARD:0000394]
xref: GARD:0000394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:603438 {source="Orphanet:3268", source="ORDO:3268/e", source="MONDO:equivalentTo"}
xref: Orphanet:3268 {source="MONDO:equivalentTo", source="OMIM:603438"}
xref: UMLS:C1863881 {source="Orphanet:3268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603438", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019715 {source="Orphanet:3268"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/omim/603438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863881
property_value: exactMatch Orphanet:3268

[Term]
id: MONDO:0011321
name: expansile bone lesions
synonym: "expansile bone lesions" EXACT [OMIM:603439]
xref: MESH:C566375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603439 {source="MONDO:equivalentTo"}
xref: UMLS:C1863880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603439"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566375
property_value: exactMatch http://identifiers.org/omim/603439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863880

[Term]
id: MONDO:0011322
name: Oroacral syndrome, Verloes-Koulischer type
synonym: "Oroacral syndrome, Verloes-Koulischer type" EXACT [OMIM:603446]
xref: MESH:C566374 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603446 {source="MONDO:equivalentTo"}
xref: UMLS:C1863879 {source="NCBI:mim2gene_medline", source="OMIM:603446", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566374
property_value: exactMatch http://identifiers.org/omim/603446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863879

[Term]
id: MONDO:0011323
name: arhinia, choanal atresia, and microphthalmia
synonym: "arhinia, choanal atresia, and microphthalmia" EXACT [OMIM:603457]
synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" RELATED [OMIM:603457]
synonym: "BAMS" RELATED [OMIM:603457]
synonym: "Bosma arhinia microphthalmia syndrome" RELATED [OMIM:603457]
synonym: "BOSMA arhinia microphthalmia syndrome; BAMS" RELATED [OMIM:603457]
xref: MESH:C537429 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603457 {source="MONDO:equivalentTo"}
xref: SCTID:720511000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863878
property_value: exactMatch http://identifiers.org/mesh/C537429
property_value: exactMatch http://identifiers.org/omim/603457
property_value: exactMatch http://identifiers.org/snomedct/720511000

[Term]
id: MONDO:0011324
name: hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" RELATED [OMIM:603463]
synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788]
synonym: "moved to 211380" RELATED [OMIM:603463]
xref: MESH:C566373 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603463 {source="MONDO:equivalentTo"}
xref: Orphanet:157788 {source="MONDO:equivalentTo", source="OMIM:603463"}
xref: UMLS:C1863870 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603463"}
is_a: MONDO:0003847 {source="Orphanet:157788/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566373
property_value: exactMatch http://identifiers.org/omim/603463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863870
property_value: exactMatch Orphanet:157788

[Term]
id: MONDO:0011325
name: Fanconi anemia complementation group f
def: "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." [NCIT:C125707]
synonym: "FANCF" EXACT [DOID:0111088, MONDO:Lexical, OMIM:603467]
synonym: "Fanconi anemia complementation group type F" EXACT [DOID:0111088, MONDORULE:1]
synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical, OMIM:603467]
synonym: "Fanconi anemia, complementation group F; FANCF" RELATED [OMIM:603467]
synonym: "Fanconi Anemia, complementation group type F" EXACT [MONDORULE:1, OMIM:603467]
xref: DOID:0111088 {source="MONDO:equivalentTo"}
xref: EFO:0009045 {source="MONDO:equivalentTo"}
xref: NCIT:C125707 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:603467 {source="MONDO:equivalentTo", source="DOID:0111088"}
is_a: MONDO:0019391 {source="DC-OMIM:603467", source="DOID:0111088", source="EFO:0009045", source="NCIT:C125707", source="OMIM:603467"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414532
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3469526
property_value: exactMatch DOID:0111088
property_value: exactMatch http://identifiers.org/omim/603467
property_value: exactMatch NCIT:C125707

[Term]
id: MONDO:0011326
name: citrullinemia, type II, adult-onset
def: "adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." [GARD:0010215]
comment: TODO - merge into parent
subset: gard_rare
synonym: "adult-onset citrullinemia type 2" RELATED [GARD:0010215]
synonym: "adult-onset citrullinemia type II" RELATED [GARD:0010215]
synonym: "citrin deficiency" RELATED [GARD:0010215, OMIM:603471]
synonym: "citrullinemia type 2" RELATED [GARD:0010215]
synonym: "citrullinemia type II" RELATED [GARD:0010215]
synonym: "citrullinemia, type II, adult-onset" EXACT [MONDO:Lexical, OMIM:603471]
synonym: "citrullinemia, type II, ADULT-onset; CTLN2" RELATED [OMIM:603471]
synonym: "CTLN2" RELATED [GARD:0010215, MONDO:Lexical, OMIM:603471]
xref: GARD:0010215 {source="MONDO:equivalentTo"}
xref: OMIM:603471 {source="MONDO:equivalentTo", source="GARD:0010215"}
is_a: MONDO:0016603 {source="MONDOLEX:0011326"} ! citrullinemia type II
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863844
property_value: exactMatch http://identifiers.org/omim/603471
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii xsd:anyURI {source="GARD:0010215"}

[Term]
id: MONDO:0011327
name: neuronal intranuclear inclusion disease
def: "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." [Orphanet:2289]
subset: gard_rare {source="GARD:0003971"}
subset: ordo_disease {source="Orphanet:2289"}
synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971]
synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472]
synonym: "Niid" RELATED [OMIM:603472]
xref: GARD:0003971 {source="MONDO:equivalentTo"}
xref: ICD10:G31.0 {source="Orphanet:2289", source="ORDO:2289/attributed", source="ORDO:2289/ntbt"}
xref: MESH:C537395 {source="Orphanet:2289", source="ORDO:2289/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122655 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:603472 {source="Orphanet:2289", source="ORDO:2289/e", source="MONDO:equivalentTo"}
xref: Orphanet:2289 {source="MONDO:equivalentTo", source="OMIM:603472"}
xref: SCTID:715437003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1863843 {source="Orphanet:2289", source="ORDO:2289/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122655", source="OMIM:603472"}
is_a: MONDO:0015547 ! genetic dementia
is_a: MONDO:0017662 {source="Orphanet:2289"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0024237 {source="Orphanet:2289"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C537395
property_value: exactMatch http://identifiers.org/omim/603472
property_value: exactMatch http://identifiers.org/snomedct/715437003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863843
property_value: exactMatch NCIT:C122655
property_value: exactMatch Orphanet:2289
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease xsd:anyURI {source="GARD:0003971"}

[Term]
id: MONDO:0011328
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1E
is_obsolete: true
replaced_by: MONDO:0018098

[Term]
id: MONDO:0011329
name: cerebral palsy, spastic quadriplegic, 1
def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "cerebral palsy spastic quadriplegic" RELATED [GARD:0010447]
synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:603513]
synonym: "cerebral palsy, spastic quadriplegic, 1; CPSQ1" RELATED [OMIM:603513]
synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513]
synonym: "CPSQ1" RELATED [MONDO:Lexical, OMIM:603513]
synonym: "GAD1 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic quadriplegia caused by mutation in GAD1" EXACT [MONDO:design_pattern]
synonym: "spastic quadriplegia cerebral palsy" RELATED [GARD:0010447]
synonym: "spastic quadriplegic cerebral palsy" RELATED [GARD:0010447]
synonym: "spastic tetraplegia cerebral palsy" RELATED [GARD:0010447]
xref: GARD:0010447 {source="MONDO:equivalentTo"}
xref: MESH:C567853 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603513 {source="MONDO:equivalentTo", source="GARD:0010447"}
xref: UMLS:C2751938 {source="OMIM:603513", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016215 {source="DC-OMIM:603513", source="MONDO:Redundant", source="OMIM:603513"} ! spastic quadriplegia
property_value: exactMatch http://identifiers.org/mesh/C567853
property_value: exactMatch http://identifiers.org/omim/603513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751938
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic xsd:anyURI {source="GARD:0010447"}

[Term]
id: MONDO:0011330
name: spinocerebellar ataxia type 10
def: "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." [Orphanet:98761]
subset: ordo_disease {source="Orphanet:98761"}
synonym: "SCA10" EXACT [MONDO:Lexical, OMIM:603516, Orphanet:98761]
synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516]
synonym: "spinocerebellar ataxia 10; SCA10" RELATED [OMIM:603516]
synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516]
xref: DOID:0050960 {source="MONDO:equivalentTo"}
xref: GARD:0010474 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="ORDO:98761/attributed", source="ORDO:98761/ntbt", source="Orphanet:98761"}
xref: MESH:C566874 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603516 {source="DOID:0050960", source="MONDO:equivalentTo", source="ORDO:98761/e", source="Orphanet:98761"}
xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"}
xref: SCTID:715754007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1963674 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603516", source="Orphanet:98761"}
xref: UMLS:C4275023 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019794 {source="Orphanet:98761"} ! autosomal dominant cerebellar ataxia type IV
property_value: exactMatch DOID:0050960
property_value: exactMatch http://identifiers.org/mesh/C566874
property_value: exactMatch http://identifiers.org/omim/603516
property_value: exactMatch http://identifiers.org/snomedct/715754007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1963674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275023
property_value: exactMatch Orphanet:98761

[Term]
id: MONDO:0011331
name: congenital chylothorax
def: "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis (see these terms), mediastinal neuroblastoma and other congenital malformations." [Orphanet:264688]
subset: gard_rare {source="GARD:0010156"}
subset: ordo_disease {source="Orphanet:264688"}
synonym: "chylothorax, congenital" RELATED [OMIM:603523]
synonym: "hydrothorax, congenital" RELATED [OMIM:603523]
xref: DOID:0060646 {source="MONDO:equivalentTo"}
xref: GARD:0010156 {source="MONDO:equivalentTo"}
xref: ICD10:I89.8 {source="ORDO:264688/ntbt", source="Orphanet:264688"}
xref: ICD9:511.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535461 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603523 {source="MONDO:equivalentTo", source="ORDO:264688/e", source="DOID:0060646", source="Orphanet:264688"}
xref: Orphanet:264688 {source="OMIM:603523", source="MONDO:equivalentTo", source="DOID:0060646"}
xref: SCTID:233646003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0340014 {source="NCBI:mim2gene_medline", source="OMIM:603523", source="MONDO:equivalentTo", source="ORDO:264688/e", source="Orphanet:264688"}
is_a: MONDO:0002037 {source="DOID:0060646", source="MESH:C535461/inferred"} ! pleural disease
is_a: MONDO:0017017 {source="Orphanet:264688"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
property_value: exactMatch DOID:0060646
property_value: exactMatch http://identifiers.org/mesh/C535461
property_value: exactMatch http://identifiers.org/omim/603523
property_value: exactMatch http://identifiers.org/snomedct/233646003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340014
property_value: exactMatch Orphanet:264688
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital xsd:anyURI {source="GARD:0010156"}

[Term]
id: MONDO:0011332
name: Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
synonym: "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" EXACT [OMIM:603529]
xref: OMIM:603529 {source="MONDO:equivalentTo"}
xref: UMLS:C3807235 {source="MONDO:equivalentTo", source="OMIM:603529"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863768
property_value: exactMatch http://identifiers.org/omim/603529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3807235

[Term]
id: MONDO:0011333
name: light fixation seizure syndrome
synonym: "Lfss" RELATED [OMIM:603530]
synonym: "light fixation seizure syndrome" EXACT [OMIM:603530]
synonym: "M syndrome" RELATED [OMIM:603530]
xref: MESH:C566367 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603530 {source="MONDO:equivalentTo"}
xref: UMLS:C1863767 {source="OMIM:603530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566367/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566367
property_value: exactMatch http://identifiers.org/omim/603530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863767

[Term]
id: MONDO:0011334
name: limb-mammary syndrome
def: "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." [Orphanet:69085]
subset: ordo_malformation_syndrome {source="Orphanet:69085"}
synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543]
synonym: "limb-mammary syndrome; LMS" RELATED [OMIM:603543]
synonym: "LMS" EXACT [Orphanet:69085]
synonym: "LMS" RELATED [MONDO:Lexical, OMIM:603543]
synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051]
xref: GARD:0010051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535903 {source="ORDO:69085/e", source="MONDO:equivalentTo", source="Orphanet:69085", source="MONDO:ontobio"}
xref: OMIM:603543 {source="ORDO:69085/e", source="MONDO:equivalentTo", source="Orphanet:69085"}
xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"}
xref: SCTID:721972001 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0015853 {source="Orphanet:69085"} ! deficient breast volume or number
is_a: MONDO:0017432 {source="Orphanet:69085"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:69085", source="Orphanet:69085/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0020197 {source="Orphanet:69085"} ! EEC syndrome and related syndrome
property_value: exactMatch http://identifiers.org/mesh/C535903
property_value: exactMatch http://identifiers.org/omim/603543
property_value: exactMatch http://identifiers.org/snomedct/721972001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863753
property_value: exactMatch Orphanet:69085

[Term]
id: MONDO:0011335
name: spondyloepimetaphyseal dysplasia with multiple dislocations
def: "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." [NCIT:C125419]
subset: gard_rare {source="GARD:0009866"}
subset: ordo_disease {source="Orphanet:93360"}
synonym: "SEMD-MD" EXACT [Orphanet:93360]
synonym: "SEMDJL2" EXACT [MONDO:Lexical, OMIM:603546, Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" RELATED [MONDO:Lexical, OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 2" EXACT [Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2; SEMDJL2" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2; SEMDJL2" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" RELATED [GARD:0009866]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" RELATED [GARD:0009866]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [OMIM:603546, Orphanet:93360]
xref: GARD:0009866 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93360/attributed", source="ORDO:93360/ntbt", source="Orphanet:93360"}
xref: MESH:C535784 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:93360/e", source="Orphanet:93360"}
xref: NCIT:C125419 {source="MONDO:equivalentTo"}
xref: OMIM:603546 {source="MONDO:equivalentTo", source="ORDO:93360/e", source="Orphanet:93360"}
xref: Orphanet:93360 {source="OMIM:603546", source="MONDO:equivalentTo"}
xref: SCTID:766820007 {source="MONDO:equivalentTo"}
xref: UMLS:C1863732 {source="MEDGEN:kboom-pr97-c98", source="OMIM:603546", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93360/e", source="Orphanet:93360"}
is_a: MONDO:0019675 {source="DC-OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity
property_value: exactMatch http://identifiers.org/mesh/C535784
property_value: exactMatch http://identifiers.org/omim/603546
property_value: exactMatch http://identifiers.org/snomedct/766820007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863732
property_value: exactMatch NCIT:C125419
property_value: exactMatch Orphanet:93360
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations xsd:anyURI {source="GARD:0009866"}

[Term]
id: MONDO:0011336
name: familial hemophagocytic lymphohistiocytosis 4
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009929"}
synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [DOID:0110924, MONDORULE:1]
synonym: "FHL4" EXACT [DOID:0110924, MONDO:Lexical, OMIM:603552]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 4" RELATED [MONDO:Lexical, OMIM:603552]
synonym: "hemophagocytic lymphohistiocytosis, familial, 4; FHL4" RELATED [OMIM:603552]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:603552]
synonym: "HLH4" EXACT [DOID:0110924]
synonym: "Hlh4" RELATED [OMIM:603552]
synonym: "HPLH4" EXACT [DOID:0110924]
synonym: "Hplh4" RELATED [OMIM:603552]
synonym: "STX11 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110924 {source="MONDO:equivalentTo"}
xref: GARD:0009929 {source="MONDO:equivalentTo"}
xref: MESH:C537252 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603552 {source="MONDO:equivalentTo", source="DOID:0110924"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0011336", source="OMIM:603552"} ! genetic hemophagocytic lymphohistiocytosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863728
property_value: exactMatch DOID:0110924
property_value: exactMatch http://identifiers.org/mesh/C537252
property_value: exactMatch http://identifiers.org/omim/603552
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 xsd:anyURI {source="GARD:0009929"}

[Term]
id: MONDO:0011337
name: familial hemophagocytic lymphohistiocytosis 2
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009922"}
synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [DOID:0110922, MONDORULE:1]
synonym: "FHL2" EXACT [DOID:0110922, MONDO:Lexical, OMIM:603553]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:603553]
synonym: "hemophagocytic lymphohistiocytosis, familial, 2; FHL2" RELATED [OMIM:603553]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:603553]
synonym: "HLH2" EXACT [DOID:0110922]
synonym: "Hlh2" RELATED [OMIM:603553]
synonym: "HPLH2" EXACT [DOID:0110922]
synonym: "Hplh2" RELATED [OMIM:603553]
synonym: "PRF1 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110922 {source="MONDO:equivalentTo"}
xref: GARD:0009922 {source="MONDO:equivalentTo"}
xref: MESH:C537250 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603553 {source="DOID:0110922", source="MONDO:equivalentTo"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0011337", source="OMIM:603553"} ! genetic hemophagocytic lymphohistiocytosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863727
property_value: exactMatch DOID:0110922
property_value: exactMatch http://identifiers.org/mesh/C537250
property_value: exactMatch http://identifiers.org/omim/603553
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2 xsd:anyURI {source="GARD:0009922"}

[Term]
id: MONDO:0011338
name: Omenn syndrome
def: "Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." [Orphanet:39041]
subset: gard_rare {source="GARD:0008198"}
subset: ordo_disease {source="Orphanet:39041"}
synonym: "combined immunodeficiency with hypereosinophilia" EXACT [DOID:0060010, Orphanet:39041]
synonym: "Omenn syndrome" EXACT [OMIM:603554]
synonym: "reticuloendotheliosis familial with eosinophilia" RELATED [GARD:0008198]
synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:603554]
synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554]
xref: DOID:0060010 {source="MONDO:equivalentTo"}
xref: GARD:0008198 {source="MONDO:equivalentTo"}
xref: ICD10:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="ORDO:39041/attributed", source="ORDO:39041/ntbt"}
xref: MedDRA:10069097 {source="ORDO:39041/e", source="Orphanet:39041"}
xref: NCIT:C61240 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:603554 {source="DOID:0060010", source="ORDO:39041/e", source="Orphanet:39041", source="MONDO:equivalentTo"}
xref: Orphanet:39041 {source="OMIM:603554", source="MONDO:equivalentTo"}
xref: SCTID:722067005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.37"}
xref: UMLS:C1801959 {source="OMIM:603554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61240"}
is_a: MONDO:0015974 {source="DOID:0060010", source="MONDO:Redundant", source="MONDOLEX:0011338", source="NCIT:C61240", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease)
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:39041", source="https://github.com/monarch-initiative/mondo-build/issues/108"} ! non-severe combined immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700553
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931884
property_value: exactMatch DOID:0060010
property_value: exactMatch http://identifiers.org/meddra/10069097
property_value: exactMatch http://identifiers.org/omim/603554
property_value: exactMatch http://identifiers.org/snomedct/722067005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1801959
property_value: exactMatch NCIT:C61240
property_value: exactMatch Orphanet:39041
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome xsd:anyURI {source="GARD:0008198"}

[Term]
id: MONDO:0011339
name: hereditary spastic paraplegia 8
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:100989"}
synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823]
synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823]
synonym: "hereditary spastic paraplegia caused by mutation in WASHC5" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 8" EXACT [DOID:0110823, MONDORULE:1]
synonym: "spastic paraplegia 8" RELATED [GARD:0009591]
synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603563]
synonym: "spastic paraplegia 8, autosomal dominant; SPG8" RELATED [OMIM:603563]
synonym: "SPG8" EXACT [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989]
synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110823 {source="MONDO:equivalentTo"}
xref: GARD:0009591 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100989/attributed", source="ORDO:100989/ntbt", source="DOID:0110823", source="Orphanet:100989"}
xref: MESH:C580458 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603563 {source="DOID:0110823", source="MONDO:equivalentTo", source="Orphanet:100989", source="ORDO:100989/e"}
xref: Orphanet:100989 {source="OMIM:603563", source="DOID:0110823", source="MONDO:equivalentTo"}
xref: UMLS:C1863704 {source="OMIM:603563", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100989", source="ORDO:100989/e"}
is_a: MONDO:0015088 {source="Orphanet:100989"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110823
property_value: exactMatch http://identifiers.org/mesh/C536867
property_value: exactMatch http://identifiers.org/mesh/C580458
property_value: exactMatch http://identifiers.org/omim/603563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863704
property_value: exactMatch Orphanet:100989

[Term]
id: MONDO:0011340
name: congenital tracheal stenosis
subset: gard_rare {source="GARD:0012008"}
subset: ordo_morphological_anomaly {source="Orphanet:141127"}
synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569]
xref: GARD:0012008 {source="MONDO:equivalentTo"}
xref: ICD10:Q32.1 {source="ORDO:141127/inclusion", source="ORDO:141127/ntbt", source="Orphanet:141127"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566362 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1839"}
xref: OMIM:603569 {source="MONDO:equivalentTo", source="ORDO:141127/e", source="Orphanet:141127"}
xref: Orphanet:141127 {source="MONDO:equivalentTo", source="OMIM:603569"}
xref: SCTID:9660004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
is_a: MONDO:0015505 {source="Orphanet:141127"} ! tracheal anomaly
is_a: MONDO:0018562 {source="Orphanet:141127", source="Orphanet:141127/inferred"} ! genetic otorhinolaryngological malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863703
property_value: exactMatch http://identifiers.org/mesh/C566362
property_value: exactMatch http://identifiers.org/omim/603569
property_value: exactMatch http://identifiers.org/snomedct/9660004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265767
property_value: exactMatch Orphanet:141127
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis xsd:anyURI {source="GARD:0012008"}

[Term]
id: MONDO:0011341
name: microcephaly, facial abnormalities, micromelia, and mental retardation
synonym: "microcephaly, facial abnormalities, micromelia, and mental retardation" EXACT [OMIM:603572]
xref: MESH:C566361 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603572 {source="MONDO:equivalentTo"}
xref: UMLS:C1863702 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603572"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566361
property_value: exactMatch http://identifiers.org/omim/603572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863702

[Term]
id: MONDO:0011342
name: SLC35A1-CDG
def: "SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." [Orphanet:238459]
subset: ordo_disease {source="Orphanet:238459"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [Orphanet:238459]
synonym: "CDG IIf" RELATED [OMIM:603585]
synonym: "CDG syndrome type IIf" EXACT [Orphanet:238459]
synonym: "CDG-IIf" EXACT [Orphanet:238459]
synonym: "CDG2F" EXACT [MONDO:Lexical, OMIM:603585, Orphanet:238459]
synonym: "CMP-sialic acid transporter deficiency" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation type 2f" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation type IIf" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical, OMIM:603585]
synonym: "congenital disorder of glycosylation, type IIf; CDG2F" RELATED [OMIM:603585]
synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409]
xref: DOID:0070258 {source="MONDO:equivalentTo"}
xref: GARD:0012409 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:238459", source="ORDO:238459/attributed", source="ORDO:238459/ntbt"}
xref: MESH:C567040 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603585 {source="Orphanet:238459", source="ORDO:238459/e", source="MONDO:equivalentTo"}
xref: Orphanet:238459 {source="OMIM:603585", source="MONDO:equivalentTo"}
xref: SCTID:723624008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970344 {source="OMIM:603585", source="MEDGEN:kboom-pr98-c99", source="Orphanet:238459", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:603585", source="MONDOLEX:0011342", source="OMIM:603585"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation
is_a: MONDO:0018286 {source="Orphanet:238459"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:238459"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018294 {source="Orphanet:238459"} ! congenital disorder of glycosylation with nephropathy as a major feature
property_value: exactMatch DOID:0070258
property_value: exactMatch http://identifiers.org/mesh/C567040
property_value: exactMatch http://identifiers.org/omim/603585
property_value: exactMatch http://identifiers.org/snomedct/723624008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970344
property_value: exactMatch Orphanet:238459

[Term]
id: MONDO:0011343
name: follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts
synonym: "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" EXACT [OMIM:603587]
xref: MESH:C566360 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603587 {source="MONDO:equivalentTo"}
xref: UMLS:C1863692 {source="OMIM:603587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566360/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566360
property_value: exactMatch http://identifiers.org/omim/603587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863692

[Term]
id: MONDO:0011344
name: parotitis, juvenile recurrent
synonym: "parotitis, juvenile recurrent" EXACT [OMIM:603588]
xref: MESH:C566359 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603588 {source="MONDO:equivalentTo"}
xref: UMLS:C1863691 {source="OMIM:603588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566359
property_value: exactMatch http://identifiers.org/omim/603588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863691

[Term]
id: MONDO:0011345
name: facial dysmorphism, selective tooth agenesis, and choroid calcification
synonym: "facial dysmorphism, selective tooth agenesis, and choroid calcification" EXACT [OMIM:603589]
xref: MESH:C567039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603589 {source="MONDO:equivalentTo"}
xref: UMLS:C1970343 {source="NCBI:mim2gene_medline", source="OMIM:603589", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567039
property_value: exactMatch http://identifiers.org/omim/603589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970343

[Term]
id: MONDO:0011346
name: xanthinuria type II
def: "Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." [Orphanet:93602]
subset: gard_rare {source="GARD:0005620"}
subset: ordo_etiological_subtype {source="Orphanet:93602"}
synonym: "type 2 xanthinuria" RELATED [GARD:0005620]
synonym: "type II xanthinuria" RELATED [GARD:0005620]
synonym: "XAN2" EXACT [MESH:C566358]
synonym: "xanthine dehydrogenase and aldehyde oxidase combined deficiency of" RELATED [GARD:0005620]
synonym: "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" EXACT [MESH:C566358, OMIM:603592]
synonym: "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" EXACT [Orphanet:93602]
synonym: "xanthinuria type 2" RELATED [GARD:0005620]
synonym: "xanthinuria, type 2" RELATED [OMIM:603592]
synonym: "xanthinuria, type II" RELATED [OMIM:603592]
synonym: "xanthinuria, type II; XAN2" RELATED [OMIM:603592]
synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602]
xref: GARD:0005620 {source="MONDO:equivalentTo"}
xref: ICD10:E79.8 {source="ORDO:93602/attributed", source="ORDO:93602/ntbt", source="Orphanet:93602"}
xref: MESH:C566358 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603592 {source="MONDO:equivalentTo", source="ORDO:93602/e", source="Orphanet:93602"}
xref: Orphanet:93602 {source="MONDO:equivalentTo", source="OMIM:603592"}
xref: UMLS:C1863688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:93602", source="OMIM:603592"}
is_a: MONDO:0018106 {source="MONDO:Redundant", source="Orphanet:93602"} ! hereditary xanthinuria
property_value: exactMatch http://identifiers.org/mesh/C566358
property_value: exactMatch http://identifiers.org/omim/603592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863688
property_value: exactMatch Orphanet:93602
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 xsd:anyURI {source="GARD:0005620"}

[Term]
id: MONDO:0011347
name: craniosynostosis with ectopia lentis
synonym: "craniosynostosis with ectopia lentis" EXACT [OMIM:603595]
xref: MESH:C566357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603595 {source="MONDO:equivalentTo"}
xref: UMLS:C1863678 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603595"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C566357", source="MONDOLEX:0011347"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C566357
property_value: exactMatch http://identifiers.org/omim/603595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863678

[Term]
id: MONDO:0011348
name: non-syndromic polydactyly
def: "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." [MESH:D017689]
comment: Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: ordo_group_of_disorders {source="Orphanet:2913"}
synonym: "Extra digits" RELATED [GARD:0004410]
synonym: "isolated polydactyly" RELATED [MONDO:DesignPattern]
synonym: "isolated polydactyly (disease)" EXACT []
synonym: "nonsyndromic polydactyly" EXACT [MONDO:DesignPattern]
synonym: "nonsyndromic polydactyly (disease)" EXACT [MONDO:patterns/isolated]
synonym: "polydactylia" RELATED [GARD:0004410]
synonym: "supernumerary digits" RELATED [GARD:0004410]
xref: GARD:0004410 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q69.0 {source="ORDO:2913/btnt", source="ORDO:2913/specific"}
xref: ICD10:Q69.1 {source="ORDO:2913/btnt", source="ORDO:2913/specific"}
xref: ICD10:Q69.2 {source="ORDO:2913/btnt", source="ORDO:2913/specific"}
xref: ICD10:Q69.9 {source="ORDO:2913/btnt", source="ORDO:2913/specific"}
xref: MedDRA:10036063 {source="ORDO:2913/e"}
xref: Orphanet:2913 {source="OMIM:603596", source="MONDO:equivalentTo"}
is_a: MONDO:0019714 {source="Orphanet:2913"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy
is_a: MONDO:0021003 {source="MONDO:Redundant", source="MONDO:cjm"} ! polydactyly (disease)
intersection_of: MONDO:0021003 ! polydactyly (disease)
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/meddra/10036063
property_value: exactMatch http://identifiers.org/mesh/D017689
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152427
property_value: exactMatch Orphanet:2913

[Term]
id: MONDO:0011349
name: osteoma of cranial vault, familial
synonym: "osteoma of cranial vault, familial" EXACT [OMIM:603600]
xref: MESH:C566356 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603600 {source="MONDO:equivalentTo"}
xref: UMLS:C1863677 {source="NCBI:mim2gene_medline", source="OMIM:603600", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566356
property_value: exactMatch http://identifiers.org/omim/603600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863677

[Term]
id: MONDO:0011350
name: autosomal dominant nonsyndromic deafness 17
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 17" EXACT [DOID:0110548]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 17" EXACT [DOID:0110548, MONDORULE:2]
synonym: "Cochleosaccular Degeneration" RELATED [OMIM:603622]
synonym: "deafness, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:603622]
synonym: "deafness, autosomal dominant 17; DFNA17" RELATED [OMIM:603622]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" RELATED [GARD:0009726]
synonym: "deafness, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:603622]
synonym: "DFNA17" EXACT [DOID:0110548, MONDO:Lexical, OMIM:603622]
synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" RELATED [GARD:0009726]
synonym: "MYH9 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonsyndromic hereditary deafness DFNA17" RELATED [GARD:0009726]
xref: DOID:0110548 {source="MONDO:equivalentTo"}
xref: GARD:0009726 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110548"}
xref: OMIM:603622 {source="DOID:0110548", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:603622", source="DOID:0110548", source="MONDO:Redundant", source="OMIM:603622"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863659
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863660
property_value: exactMatch DOID:0110548
property_value: exactMatch http://identifiers.org/omim/603622

[Term]
id: MONDO:0011351
name: autosomal recessive nonsyndromic deafness 21
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 21" EXACT [DOID:0110479]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" EXACT []
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in tecta" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 21" EXACT [DOID:0110479, MONDORULE:2]
synonym: "deafness, autosomal recessive 21" RELATED [MONDO:Lexical, OMIM:603629]
synonym: "deafness, autosomal recessive 21; DFNB21" RELATED [OMIM:603629]
synonym: "deafness, autosomal recessive type 21" EXACT [MONDORULE:2, OMIM:603629]
synonym: "DFNB21" EXACT [DOID:0110479, MONDO:Lexical, OMIM:603629]
synonym: "TECTA autosomal recessive nonsyndromic deafness" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "tecta autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern]
xref: DOID:0110479 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110479"}
xref: MESH:C566353 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603629 {source="DOID:0110479", source="MONDO:equivalentTo"}
xref: UMLS:C1863655 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603629"}
is_a: MONDO:0019588 {source="DC-OMIM:603629", source="DOID:0110479", source="MONDO:Redundant", source="OMIM:603629"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110479
property_value: exactMatch http://identifiers.org/mesh/C566353
property_value: exactMatch http://identifiers.org/omim/603629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863655

[Term]
id: MONDO:0011352
name: neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
synonym: "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" EXACT [OMIM:603641]
xref: MESH:C566352 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603641 {source="MONDO:equivalentTo"}
xref: UMLS:C1863649 {source="OMIM:603641", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566352
property_value: exactMatch http://identifiers.org/omim/603641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863649

[Term]
id: MONDO:0011353
name: atrial septal defect, secundum, with various cardiac and Noncardiac defects
synonym: "atrial septal defect, secundum, with various cardiac and Noncardiac defects" EXACT [OMIM:603642]
xref: MESH:C566351 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603642 {source="MONDO:equivalentTo"}
xref: UMLS:C1863648 {source="OMIM:603642", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566351
property_value: exactMatch http://identifiers.org/omim/603642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863648

[Term]
id: MONDO:0011354
name: situs inversus totalis with cystic dysplasia of kidneys and pancreas
subset: gard_rare {source="GARD:0008567"}
synonym: "situs inversus totalis with cystic dysplasia of kidneys and pancreas" EXACT [OMIM:603643]
synonym: "situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs ,severe intrauterine growth retardation, and oligohydramnios" RELATED [GARD:0008567]
xref: GARD:0008567 {source="MONDO:equivalentTo"}
xref: MESH:C536666 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603643 {source="MONDO:equivalentTo"}
xref: UMLS:C1863647 {source="OMIM:603643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010029 {source="MESH:C536666", source="MONDO:cjm", source="MONDOLEX:0011354"} ! situs inversus
property_value: exactMatch http://identifiers.org/mesh/C536666
property_value: exactMatch http://identifiers.org/omim/603643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863647
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas xsd:anyURI {source="GARD:0008567"}

[Term]
id: MONDO:0011355
name: cone-rod dystrophy 7
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 7" EXACT [MONDO:Lexical, OMIM:603649]
synonym: "cone-rod dystrophy 7; CORD7" RELATED [OMIM:603649]
synonym: "cone-rod dystrophy caused by mutation in RIMS1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 7" EXACT [DOID:0111012, MONDORULE:1, OMIM:603649]
synonym: "CORD7" EXACT [DOID:0111012, MONDO:Lexical, OMIM:603649]
synonym: "RIMS1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111012 {source="MONDO:equivalentTo"}
xref: MESH:C566350 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603649 {source="MONDO:equivalentTo", source="DOID:0111012"}
xref: UMLS:C1863634 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603649"}
is_a: MONDO:0015993 {source="DC-OMIM:603649", source="DOID:0111012", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111012
property_value: exactMatch http://identifiers.org/mesh/C566350
property_value: exactMatch http://identifiers.org/omim/603649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863634

[Term]
id: MONDO:0011356
name: exostosis, Dupuytren subungual
subset: gard_rare {source="GARD:0008280"}
synonym: "Dupuytren subungual exostosis" RELATED [GARD:0008280]
synonym: "exostosis, Dupuytren subungual" EXACT [OMIM:603656]
synonym: "subungual exostoses" RELATED [GARD:0008280]
xref: GARD:0008280 {source="MONDO:equivalentTo"}
xref: MESH:C535723 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603656 {source="MONDO:equivalentTo"}
xref: UMLS:C1863622 {source="OMIM:603656", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535723
property_value: exactMatch http://identifiers.org/omim/603656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863622
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis xsd:anyURI {source="GARD:0008280"}

[Term]
id: MONDO:0011357
name: eccrine syringofibroadenomatosis with eyelid abnormalities
synonym: "eccrine syringofibroadenomatosis with eyelid abnormalities" EXACT [OMIM:603669]
xref: MESH:C566347 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603669 {source="MONDO:equivalentTo"}
xref: UMLS:C1863618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603669"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0024246 ! syringofibroadenoma
property_value: exactMatch http://identifiers.org/mesh/C566347
property_value: exactMatch http://identifiers.org/omim/603669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863618

[Term]
id: MONDO:0011358
name: blue nevi, familial multiple
synonym: "blue nevi, familial multiple" EXACT [OMIM:603670]
xref: MESH:C566346 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603670 {source="MONDO:equivalentTo"}
xref: UMLS:C1863617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603670"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0006680 ! blue nevus
property_value: exactMatch http://identifiers.org/mesh/C566346
property_value: exactMatch http://identifiers.org/omim/603670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863617

[Term]
id: MONDO:0011359
name: acromelic frontonasal dysostosis
def: "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." [Orphanet:1827]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1827"}
synonym: "acromelic frontonasal dysostosis" EXACT [MONDO:Lexical, OMIM:603671, Orphanet:1827]
synonym: "acromelic frontonasal dysostosis; AFND" RELATED [OMIM:603671]
synonym: "acromelic frontonasal dysplasia" RELATED [Orphanet:1827]
synonym: "AFND" EXACT [Orphanet:1827]
synonym: "AFND" RELATED [MONDO:Lexical, OMIM:603671]
synonym: "frontonasal dysplasia acromelic" RELATED [GARD:0002393]
synonym: "Toriello syndrome" EXACT [Orphanet:1827]
xref: DOID:0060342 {source="MONDO:equivalentTo"}
xref: GARD:0002393 {source="MONDO:equivalentTo"}
xref: GARD:0005539 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q75.8 {source="ORDO:1827/attributed", source="ORDO:1827/ntbt", source="Orphanet:1827"}
xref: MESH:C566345 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603671 {source="DOID:0060342", source="MONDO:equivalentTo", source="ORDO:1827/e", source="Orphanet:1827"}
xref: Orphanet:1827 {source="MONDO:equivalentTo", source="OMIM:603671"}
xref: SCTID:715427008 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"}
xref: UMLS:C1863616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603671"}
is_a: MONDO:0016643 {source="Orphanet:1827"} ! frontonasal dysplasia
is_a: MONDO:0018237 {source="Orphanet:1827"} ! acrofacial dysostosis
property_value: exactMatch DOID:0060342
property_value: exactMatch http://identifiers.org/mesh/C535657
property_value: exactMatch http://identifiers.org/mesh/C566345
property_value: exactMatch http://identifiers.org/omim/603671
property_value: exactMatch http://identifiers.org/snomedct/715427008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863616
property_value: exactMatch Orphanet:1827
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic xsd:anyURI {source="GARD:0002393"}

[Term]
id: MONDO:0011360
name: autosomal recessive nonsyndromic deafness 14
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31." [DOID:0110469, PMID:9887371]
synonym: "autosomal recessive deafness 14" EXACT [DOID:0110469]
synonym: "autosomal recessive nonsyndromic deafness type 14" EXACT [DOID:0110469, MONDORULE:2]
synonym: "deafness, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:603678]
synonym: "deafness, autosomal recessive 14; DFNB14" RELATED [OMIM:603678]
synonym: "DFNB14" EXACT [DOID:0110469, MONDO:Lexical, OMIM:603678]
xref: DOID:0110469 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110469"}
xref: MESH:C566344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603678 {source="DOID:0110469", source="MONDO:equivalentTo"}
xref: UMLS:C1863613 {source="OMIM:603678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:603678", source="DOID:0110469", source="OMIM:603678"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110469
property_value: exactMatch http://identifiers.org/mesh/C566344
property_value: exactMatch http://identifiers.org/omim/603678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863613

[Term]
id: MONDO:0011361
name: prostate cancer/brain cancer susceptibility
subset: predisposition
synonym: "Capb" RELATED [OMIM:603688]
synonym: "Pcbc" RELATED [OMIM:603688]
synonym: "prostate cancer/brain cancer susceptibility" EXACT [OMIM:603688]
xref: OMIM:603688 {source="MONDO:equivalentTo"}
is_a: MONDO:0008315 {source="MONDOLEX:0011361", source="ORDO:1331/btnt"} ! prostate cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863600
property_value: exactMatch http://identifiers.org/omim/603688

[Term]
id: MONDO:0011362
name: hereditary proximal myopathy with early respiratory failure
subset: gard_rare {source="GARD:0012591"}
subset: ordo_disease {source="Orphanet:178464"}
synonym: "ADMERF" EXACT [Orphanet:178464]
synonym: "Edstrom myopathy" RELATED [OMIM:603689]
synonym: "Edström myopathy" EXACT [Orphanet:178464]
synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [Orphanet:178464]
synonym: "hereditary myopathy with early respiratory failure" RELATED [MONDO:Lexical, OMIM:603689]
synonym: "hereditary myopathy with early respiratory failure; HMERF" RELATED [OMIM:603689]
synonym: "HIBM-ERF" EXACT [Orphanet:178464]
synonym: "HMERF" EXACT [MONDO:Lexical, OMIM:603689, Orphanet:178464]
synonym: "HMERF-ERF" RELATED [GARD:0012591]
synonym: "myofibrillar myopathy with early respiratory failure" EXACT [Orphanet:178464]
synonym: "myopathy, proximal, with early respiratory muscle involvement" RELATED [OMIM:603689]
xref: GARD:0012591 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:178464", source="ORDO:178464/attributed", source="ORDO:178464/ntbt"}
xref: MESH:C566343 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603689 {source="ORDO:178464/e", source="Orphanet:178464", source="MONDO:equivalentTo"}
xref: Orphanet:178464 {source="OMIM:603689", source="MONDO:equivalentTo"}
xref: SCTID:702373006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C1863599 {source="Orphanet:178464", source="OMIM:603689", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016106 {source="Orphanet:178464"} ! progressive muscular dystrophy
is_a: MONDO:0016112 {source="Orphanet:178464"} ! inclusion myopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
property_value: exactMatch http://identifiers.org/mesh/C566343
property_value: exactMatch http://identifiers.org/omim/603689
property_value: exactMatch http://identifiers.org/snomedct/702373006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863599
property_value: exactMatch Orphanet:178464
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure xsd:anyURI {source="GARD:0012591"}

[Term]
id: MONDO:0011363
name: diabetes mellitus, noninsulin-dependent, 3
synonym: "diabetes mellitus, noninsulin-dependent, 3" EXACT [OMIM:603694]
synonym: "diabetes mellitus, noninsulin-dependent, type 3" EXACT [MONDORULE:1, OMIM:603694]
synonym: "NIDDM3" RELATED [OMIM:603694]
synonym: "noninsulin-dependent diabetes mellitus 3" RELATED [OMIM:603694]
xref: MESH:C566342 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603694 {source="MONDO:equivalentTo"}
xref: UMLS:C1863594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603694"}
is_a: MONDO:0005148 {source="DC-OMIM:603694", source="MESH:C566342", source="MONDOLEX:0011363"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C566342
property_value: exactMatch http://identifiers.org/omim/603694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863594

[Term]
id: MONDO:0011364
name: autosomal recessive nonsyndromic deafness 16
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 16" EXACT [DOID:0110471]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 16" EXACT [DOID:0110471, MONDORULE:2]
synonym: "deafness, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:603720]
synonym: "deafness, autosomal recessive 16; DFNB16" RELATED [OMIM:603720]
synonym: "deafness, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:603720]
synonym: "DFNB16" EXACT [DOID:0110471, MONDO:Lexical, OMIM:603720]
synonym: "STRC autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110471 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110471"}
xref: MESH:C566339 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603720 {source="MONDO:equivalentTo", source="DOID:0110471"}
xref: UMLS:C1863561 {source="OMIM:603720", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:603720", source="DOID:0110471", source="MONDO:Redundant", source="OMIM:603720"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110471
property_value: exactMatch http://identifiers.org/mesh/C566339
property_value: exactMatch http://identifiers.org/omim/603720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863561

[Term]
id: MONDO:0011365
name: blepharophimosis - intellectual disability syndrome, SBBYS type
def: "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." [Orphanet:3047]
subset: ordo_malformation_syndrome {source="Orphanet:3047"}
synonym: "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:3047]
synonym: "Ohdo syndrome, SBBYS variant" EXACT [DOID:0060290]
synonym: "Ohdo syndrome, SBBYS variant" RELATED [MONDO:Lexical, OMIM:603736]
synonym: "Ohdo syndrome, SBBYS variant; SBBYSS" RELATED [OMIM:603736]
synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [DOID:0060290, OMIM:603736, Orphanet:3047]
synonym: "SBBYSS" EXACT [DOID:0060290, MONDO:Lexical, OMIM:603736, Orphanet:3047]
synonym: "Young-Simpson syndrome" RELATED [OMIM:603736]
xref: DOID:0060290 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3047", source="ORDO:3047/attributed", source="ORDO:3047/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536717 {source="MONDO:equivalentTo", source="DOID:0060290", source="MONDO:ontobio"}
xref: OMIM:603736 {source="ORDO:3047/e", source="Orphanet:3047", source="MONDO:equivalentTo", source="DOID:0060290"}
xref: Orphanet:3047 {source="MONDO:equivalentTo", source="OMIM:603736", source="DOID:0060290"}
xref: SCTID:699298009 {source="MONDO:equivalentTo", source="DOID:0060290", source="MONDO:kboom-pr-1.00/0.77/6.27"}
is_a: MONDO:0000734 {source="DC-OMIM:603736", source="DOID:0060290"} ! Ohdo syndrome and variants
is_a: MONDO:0015778 {source="Orphanet:3047"} ! syndromic hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863557
property_value: exactMatch DOID:0060290
property_value: exactMatch http://identifiers.org/mesh/C536717
property_value: exactMatch http://identifiers.org/omim/603736
property_value: exactMatch http://identifiers.org/snomedct/699298009
property_value: exactMatch Orphanet:3047

[Term]
id: MONDO:0011366
name: ovarian germ cell tumor
def: "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." [NCIT:C3873]
comment: Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor'
synonym: "germ cell neoplasm of ovary" EXACT [DOID:2156, NCIT:C3873]
synonym: "germ cell neoplasm of the ovary" EXACT [NCIT:C3873]
synonym: "germ cell tumor of ovary" EXACT [NCIT:C3873]
synonym: "germ cell tumor of the ovary" EXACT [NCIT:C3873]
synonym: "ovarian germ cell cancer" RELATED [OMIM:603737]
synonym: "ovarian germ cell neoplasm" EXACT [NCIT:C3873]
synonym: "ovarian germ cell tumor" EXACT [DOID:2156, NCIT:C3873]
synonym: "ovary germ cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:2156 {source="MONDO:equivalentTo"}
xref: EFO:1000419 {source="MONDO:equivalentTo"}
xref: GARD:0009330 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3873 {source="EFO:1000419", source="DOID:2156", source="MONDO:equivalentTo"}
xref: OMIM:603737 {source="DOID:2156", source="MONDO:equivalentTo"}
xref: ONCOTREE:OGCT {source="MONDO:equivalentTo"}
xref: SCTID:237059008 {source="DOID:2156", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238324 {source="DOID:2156", source="MONDO:equivalentTo", source="NCIT:C3873"}
is_a: MONDO:0005040 {source="EFO:1000419", source="MONDO:Redundant", source="MONDOLEX:0011366", source="NCIT:C3873"} ! germ cell tumor
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C3873", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian neoplasm
property_value: exactMatch DOID:2156
property_value: exactMatch http://identifiers.org/omim/603737
property_value: exactMatch http://identifiers.org/snomedct/237059008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238324
property_value: exactMatch NCIT:C3873

[Term]
id: MONDO:0011367
name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
def: "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." [https://orcid.org/0000-0001-5208-3432, PMID:22440536]
subset: gard_rare {source="GARD:0010076"}
synonym: "acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia" RELATED [GARD:0010076]
synonym: "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" EXACT [OMIM:603740]
xref: GARD:0010076 {source="MONDO:equivalentTo"}
xref: MESH:C538181 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603740 {source="MONDO:equivalentTo"}
xref: UMLS:C1863556 {source="OMIM:603740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538181/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538181
property_value: exactMatch http://identifiers.org/omim/603740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863556
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia xsd:anyURI {source="GARD:0010076"}

[Term]
id: MONDO:0011368
name: papillary thyroid Microcarcinoma
def: "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." [NCIT:P378]
synonym: "papillary Microcarcinoma of the thyroid" EXACT [NCIT:C46004]
synonym: "papillary Microcarcinoma of the thyroid gland" EXACT [NCIT:C46004]
synonym: "papillary thyroid gland Microcarcinoma" EXACT [NCIT:C46004]
synonym: "papillary thyroid Microcarcinoma" EXACT [OMIM:603744]
synonym: "thyroid gland papillary Microcarcinoma" EXACT [NCIT:C46004]
xref: ICDO:8341/3 {source="NCIT:C46004"}
xref: MESH:C563277 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C46004 {source="MONDO:equivalentTo"}
xref: OMIM:603744 {source="MONDO:equivalentTo"}
xref: UMLS:C1709457 {source="OMIM:603744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C46004"}
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: exactMatch http://identifiers.org/mesh/C563277
property_value: exactMatch http://identifiers.org/omim/603744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709457
property_value: exactMatch NCIT:C46004

[Term]
id: MONDO:0011369
name: hypercholesterolemia, autosomal dominant, 3
def: "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "familial hypercholesterolemia caused by mutation in PCSK9" EXACT [MONDO:design_pattern]
synonym: "Fh3" RELATED [OMIM:603776]
synonym: "HCHOLA3" RELATED [MONDO:Lexical, OMIM:603776]
synonym: "hypercholesterolemia, autosomal dominant, 3" EXACT [MONDO:Lexical, OMIM:603776]
synonym: "hypercholesterolemia, autosomal dominant, 3; HCHOLA3" RELATED [OMIM:603776]
synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1, OMIM:603776]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [OMIM:603776]
synonym: "PCSK9 familial hypercholesterolemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566337 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603776 {source="MONDO:equivalentTo"}
xref: UMLS:C1863551 {source="NCBI:mim2gene_medline", source="OMIM:603776", source="MONDO:equivalentTo"}
is_a: MONDO:0005439 {source="DC-OMIM:603776", source="MONDO:Redundant"} ! familial hypercholesterolemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276239
property_value: closeMatch Orphanet:406
property_value: exactMatch http://identifiers.org/mesh/C566337
property_value: exactMatch http://identifiers.org/omim/603776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863551

[Term]
id: MONDO:0011370
name: Stargardt disease 4
def: "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PROM1 Stargardt disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Stargardt disease 4" EXACT [MONDO:Lexical, OMIM:603786]
synonym: "Stargardt disease 4; STGD4" RELATED [OMIM:603786]
synonym: "Stargardt disease caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "Stargardt disease type 4" EXACT [MONDORULE:1, OMIM:603786]
synonym: "STGD4" RELATED [MONDO:Lexical, OMIM:603786]
xref: MESH:C535521 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603786 {source="MONDO:equivalentTo"}
xref: UMLS:C1863534 {source="OMIM:603786", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019353 {source="DC-OMIM:603786", source="MONDO:Redundant"} ! Stargardt disease
property_value: exactMatch http://identifiers.org/mesh/C535521
property_value: exactMatch http://identifiers.org/omim/603786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863534

[Term]
id: MONDO:0011371
name: hydroa vacciniforme, familial
def: "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0010079"}
synonym: "familial hydroa vacciniforme" RELATED [GARD:0010079]
synonym: "hereditary hydroa vacciniforme" EXACT [MONDO:patterns/hereditary]
synonym: "hydroa vacciniforme, familial" EXACT [OMIM:603794]
xref: GARD:0010079 {source="MONDO:equivalentTo"}
xref: MESH:C536077 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603794 {source="MONDO:equivalentTo"}
xref: UMLS:C1863533 {source="OMIM:603794", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018024 {source="MESH:C536077", source="MONDO:Redundant", source="OWLReasoner:2017"} ! hydroa vacciniforme
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0018024 ! hydroa vacciniforme
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C536077
property_value: exactMatch http://identifiers.org/omim/603794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863533
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial xsd:anyURI {source="GARD:0010079"}

[Term]
id: MONDO:0011372
name: microcephaly with simplified gyral pattern
synonym: "microcephaly with simplified gyral pattern" EXACT [OMIM:603802]
xref: MESH:C566332 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603802 {source="MONDO:equivalentTo"}
xref: UMLS:C1863516 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603802"}
is_a: MONDO:0016660 {source="ORDO:2512/btnt"} ! autosomal recessive primary microcephaly
property_value: exactMatch http://identifiers.org/mesh/C566332
property_value: exactMatch http://identifiers.org/omim/603802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863516

[Term]
id: MONDO:0011373
name: urinary tract infections, recurrent, susceptibility to
subset: predisposition
synonym: "urinary tract infections, recurrent, susceptibility to" EXACT [OMIM:603806]
xref: OMIM:603806 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863514
property_value: exactMatch http://identifiers.org/omim/603806

[Term]
id: MONDO:0011374
name: hypercholesterolemia, familial, 4
def: "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." [NCIT:C128114]
synonym: "ARH" EXACT [DOID:0090105, MONDO:Lexical, OMIM:603813]
synonym: "ARH1" NARROW [DOID:0090105]
synonym: "ARH2" NARROW [DOID:0090105]
synonym: "autosomal recessive hypercholesterolemia 1" NARROW [DOID:0090105]
synonym: "autosomal recessive hypercholesterolemia 2" NARROW [DOID:0090105]
synonym: "familial autosomal recessive hypercholesterolemia" EXACT [DOID:0090105]
synonym: "FHCB1" RELATED [DOID:0090105, OMIM:603813]
synonym: "FHCB1, formerly" RELATED [OMIM:603813]
synonym: "FHCB2" RELATED [DOID:0090105, OMIM:603813]
synonym: "FHCB2, formerly" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive" RELATED [MONDO:Lexical, OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 1" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 1, formerly" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 2" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 2, formerly" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive; ARH" RELATED [OMIM:603813]
xref: DOID:0090105 {source="MONDO:equivalentTo"}
xref: ICD10:E78.0 {source="DOID:0090105"}
xref: MESH:C566331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128114 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:603813 {source="MONDO:equivalentTo", source="DOID:0090105"}
xref: UMLS:C1863512 {source="NCIT:C128114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603813"}
is_a: MONDO:0018328 {source="ORDO:391665/btnt"} ! homozygous familial hypercholesterolemia
property_value: exactMatch DOID:0090105
property_value: exactMatch http://identifiers.org/mesh/C566331
property_value: exactMatch http://identifiers.org/omim/603813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863512
property_value: exactMatch NCIT:C128114

[Term]
id: MONDO:0011375
name: brittle bone disorder
synonym: "brittle bone disorder" EXACT [OMIM:603828]
xref: MESH:C565842 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603828 {source="MONDO:equivalentTo"}
xref: UMLS:C1859069 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603828"}
is_a: MONDO:0019019 ! osteogenesis imperfecta
property_value: exactMatch http://identifiers.org/mesh/C565842
property_value: exactMatch http://identifiers.org/omim/603828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859069

[Term]
id: MONDO:0011376
name: idiopathic ventricular fibrillation, non Brugada type
subset: ordo_disease {source="Orphanet:228140"}
synonym: "familial paroxysmal ventricular fibrillation, non Brugada type" EXACT [Orphanet:228140]
synonym: "idiopathic ventricular fibrillation" RELATED [GARD:0004227]
synonym: "IVF" RELATED [GARD:0004227]
synonym: "Ivf" RELATED [OMIM:603829]
synonym: "paroxysmal familial ventricular fibrillation" RELATED [GARD:0004227]
synonym: "paroxysmal ventricular fibrillation" RELATED [GARD:0004227]
synonym: "ventricular fibrillation during myocardial infarction, susceptibility to" RELATED [OMIM:603829]
synonym: "ventricular fibrillation, paroxysmal familial" RELATED [GARD:0004227]
synonym: "ventricular fibrillation, paroxysmal familial, 1" RELATED [MONDO:Lexical, OMIM:603829]
synonym: "ventricular fibrillation, paroxysmal familial, 1; VF1" RELATED [OMIM:603829]
synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1, OMIM:603829]
synonym: "VF1" RELATED [MONDO:Lexical, OMIM:603829]
xref: GARD:0004227 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I49.0 {source="ORDO:228140/attributed", source="ORDO:228140/ntbt", source="Orphanet:228140"}
xref: MESH:C567851 {source="MONDO:equivalentTo"}
xref: OMIM:603829 {source="MONDO:equivalentTo", source="Orphanet:228140", source="ORDO:228140/e"}
xref: Orphanet:228140 {source="MONDO:equivalentTo", source="OMIM:603829"}
xref: SCTID:233915000 {source="MONDO:equivalentTo"}
xref: UMLS:C2751898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603829"}
is_a: MONDO:0000190 {source="DC-OMIM:603829", source="MESH:C567851"} ! ventricular fibrillation (disease)
is_a: MONDO:0015110 {source="Orphanet:228140"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/mesh/C567851
property_value: exactMatch http://identifiers.org/omim/603829
property_value: exactMatch http://identifiers.org/snomedct/233915000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751898
property_value: exactMatch Orphanet:228140

[Term]
id: MONDO:0011377
name: long QT syndrome 3
def: "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137959]
subset: gard_rare {source="GARD:0003286"}
synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:603830]
synonym: "long QT syndrome 3" EXACT [MONDO:Lexical, OMIM:603830]
synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830]
synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:603830]
synonym: "long QT syndrome 3; LQT3" RELATED [OMIM:603830]
synonym: "long QT syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830]
synonym: "LQT3" EXACT [DOID:0110646, MONDO:Lexical, OMIM:603830]
synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110646 {source="MONDO:equivalentTo"}
xref: GARD:0003286 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110646"}
xref: MESH:C565840 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C137959 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:603830 {source="DOID:0110646", source="MONDO:equivalentTo"}
xref: UMLS:C1859062 {source="OMIM:603830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C2931401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:603830", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838527
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276240
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276241
property_value: exactMatch DOID:0110646
property_value: exactMatch http://identifiers.org/mesh/C565840
property_value: exactMatch http://identifiers.org/omim/603830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931401
property_value: exactMatch NCIT:C137959
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 xsd:anyURI {source="GARD:0003286"}

[Term]
id: MONDO:0011378
name: obsolete CFM1
comment: This is a gene, not a disease.
synonym: "CFM1" EXACT [MONDO:Lexical, OMIM:603855]
synonym: "cystic fibrosis, modifier of, 1" RELATED [MONDO:Lexical, OMIM:603855]
synonym: "cystic fibrosis, modifier of, 1; CFM1" RELATED [OMIM:603855]
synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED [OMIM:603855]
xref: OMIM:603855 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859047
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276246
property_value: exactMatch http://identifiers.org/omim/603855
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1861 xsd:string
is_obsolete: true

[Term]
id: MONDO:0011379
name: medullary cystic kidney disease 2
def: "An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein." [NCIT:P378]
synonym: "MCKD2" RELATED [MONDO:Lexical, OMIM:603860]
synonym: "medullary cystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:603860]
synonym: "medullary cystic kidney disease 2, autosomal dominant" RELATED [OMIM:603860]
synonym: "medullary cystic kidney disease 2; MCKD2" RELATED [OMIM:603860]
synonym: "medullary cystic kidney disease type 2" EXACT [MONDORULE:1, OMIM:603860]
synonym: "medullary cystic kidney disease type II" EXACT [NCIT:C123172]
xref: EFO:0008618 {source="MONDO:equivalentTo"}
xref: NCIT:C123172 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: OMIM:603860 {source="MONDO:equivalentTo"}
xref: SCTID:445503007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4054550 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C123172", source="MONDO:equivalentTo"}
is_a: MONDO:0008264 {source="ORDO:34149/btnt"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859040
property_value: exactMatch http://identifiers.org/omim/603860
property_value: exactMatch http://identifiers.org/snomedct/445503007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054550
property_value: exactMatch NCIT:C123172

[Term]
id: MONDO:0011380
name: leukoencephalopathy with vanishing white matter
def: "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." [Orphanet:135]
subset: ordo_disease {source="Orphanet:135"}
synonym: "CACH" EXACT [DOID:0060868]
synonym: "CACH syndrome" RELATED [Orphanet:135]
synonym: "CACH/VWM" RELATED [GARD:0000231]
synonym: "CACH/VWM syndrome" RELATED [GARD:0000231]
synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [DOID:0060868]
synonym: "childhood ataxia with central nervous system hypomyelination/vanishing white matter" RELATED [GARD:0000231]
synonym: "childhood ataxia with central nervous system hypomyelinization" RELATED [OMIM:603896]
synonym: "childhood ataxia with diffuse central nervous system hypomyelination" EXACT [Orphanet:135]
synonym: "CLE" EXACT EXCLUDE [DOID:0060868]
synonym: "Cree leukoencehalopathy" RELATED [GARD:0000231]
synonym: "Cree leukoencephalopathy" EXACT [DOID:0060868, OMIM:603896]
synonym: "leukoencephalopathy with vanishing white matter" EXACT [MONDO:Lexical, OMIM:603896, Orphanet:135]
synonym: "leukoencephalopathy with vanishing WHITE matter; VWM" RELATED [OMIM:603896]
synonym: "myelinosis centralis diffusa" EXACT [Orphanet:135]
synonym: "ovarioleukodystrophy" RELATED [OMIM:603896]
synonym: "vanishing white matter disease" RELATED [GARD:0000231]
synonym: "vanishing White matter leukodystrophy" RELATED [OMIM:603896]
synonym: "vanishing white matter leukodystrophy" EXACT [DOID:0060868]
synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [OMIM:603896]
synonym: "VWM" RELATED [MONDO:Lexical, OMIM:603896]
xref: DOID:0060868 {source="MONDO:equivalentTo"}
xref: GARD:0000231 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="DOID:0060868", source="ORDO:135/attributed", source="ORDO:135/ntbt", source="Orphanet:135"}
xref: NCIT:C122664 {source="MONDO:kboom-pr-0.96/0.86/1.06", source="MONDO:equivalentTo"}
xref: OMIM:603896 {source="MONDO:equivalentTo", source="DOID:0060868", source="ORDO:135/e", source="Orphanet:135"}
xref: Orphanet:135 {source="OMIM:603896", source="MONDO:equivalentTo", source="DOID:0060868"}
xref: SCTID:447351004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858991 {source="OMIM:603896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122664", source="ORDO:135/e", source="Orphanet:135"}
xref: UMLS:CN199219 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="DOID:0060868", source="Orphanet:135"} ! leukodystrophy
property_value: exactMatch DOID:0060868
property_value: exactMatch http://identifiers.org/mesh/C537420
property_value: exactMatch http://identifiers.org/omim/603896
property_value: exactMatch http://identifiers.org/snomedct/447351004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199219
property_value: exactMatch NCIT:C122664
property_value: exactMatch Orphanet:135

[Term]
id: MONDO:0011381
name: dominant beta-thalassemia
def: "Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia." [Orphanet:231226]
subset: ordo_clinical_subtype {source="Orphanet:231226"}
synonym: "BETA-thalassemia, dominant inclusion body type" RELATED [OMIM:603902]
synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902]
synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226]
xref: ICD10:D56.1 {source="ORDO:231226/attributed", source="ORDO:231226/ntbt", source="Orphanet:231226"}
xref: MESH:C565834 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603902 {source="MONDO:equivalentTo", source="ORDO:231226/e", source="Orphanet:231226"}
xref: Orphanet:231226 {source="MONDO:equivalentTo", source="OMIM:603902"}
xref: SCTID:716682000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1858990 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603902", source="Orphanet:231226"}
xref: UMLS:C4274391 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019402 {source="DC-OMIM:603902", source="MESH:C565834", source="Orphanet:231226", source="linkedlifedata"} ! beta thalassemia
property_value: exactMatch http://identifiers.org/mesh/C565834
property_value: exactMatch http://identifiers.org/omim/603902
property_value: exactMatch http://identifiers.org/snomedct/716682000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274391
property_value: exactMatch Orphanet:231226

[Term]
id: MONDO:0011382
name: sickle cell anemia
def: "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." [Orphanet:232]
subset: ordo_disease {source="Orphanet:232"}
synonym: "drepanocytosis" EXACT [DOID:10923]
synonym: "Hb SC disease" EXACT [DOID:10923]
synonym: "Hb-S/Hb-C disease" EXACT [DOID:10923, MTHICD9_2006:282.63]
synonym: "Hb-SS disease without crisis" EXACT [DOID:10923]
synonym: "HbS disease" RELATED [GARD:0008614]
synonym: "Hemoglobin S disease" RELATED [GARD:0008614]
synonym: "Hemoglobin S disease without crisis" EXACT [DOID:10923]
synonym: "hemoglobin SC disease" EXACT [DOID:10923]
synonym: "sickle cell anemia" EXACT [OMIM:603903]
synonym: "sickle cell disease" EXACT [Orphanet:232]
synonym: "sickle-cell/Hb-C disease without crisis" EXACT [DOID:10923, ICD9CM_2006:282.63]
synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383]
xref: DOID:10923 {source="MONDO:equivalentTo"}
xref: EFO:1001797 {source="MONDO:equivalentTo"}
xref: GARD:0008614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D57 {source="DOID:10923"}
xref: ICD10:D57.0 {source="ORDO:232/btnt", source="ORDO:232/specific", source="Orphanet:232"}
xref: ICD10:D57.1 {source="ORDO:232/btnt", source="DOID:10923", source="ORDO:232/specific", source="Orphanet:232"}
xref: ICD10:D57.2 {source="ORDO:232/btnt", source="DOID:10923", source="ORDO:232/specific", source="Orphanet:232"}
xref: ICD10:D57.20 {source="DOID:10923"}
xref: ICD9:282.6 {source="DOID:10923"}
xref: ICD9:282.60 {source="DOID:10923"}
xref: ICD9:282.63 {source="DOID:10923"}
xref: MedDRA:10040641 {source="ORDO:232/e", source="Orphanet:232"}
xref: MESH:D000755 {source="MONDO:equivalentTo", source="DOID:10923", source="ORDO:232/e", source="Orphanet:232"}
xref: NCIT:C34383 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:10923"}
xref: OMIM:603903 {source="MONDO:equivalentTo", source="DOID:10923", source="ORDO:232/e", source="Orphanet:232"}
xref: Orphanet:232 {source="MONDO:equivalentTo", source="OMIM:603903"}
xref: UMLS:C0002895 {source="NCIT:C34383", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:10923", source="OMIM:603903", source="ORDO:232/e", source="Orphanet:232"}
is_a: MONDO:0006025 {source="DOID:10923", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015890 {source="Orphanet:232"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0017146 {source="EFO:1001797", source="Orphanet:232"} ! sickle cell disease and related diseases
is_a: MONDO:0018377 {source="Orphanet:232"} ! rare hereditary disease with avascular necrosis
is_a: MONDO:0018792 {source="Orphanet:232"} ! Moyamoya syndrome
is_a: MONDO:0019747 {source="Orphanet:232"} ! hematological disorder with renal involvement
property_value: closeMatch http://identifiers.org/mesh/D006450
property_value: closeMatch http://identifiers.org/snomedct/127040003
property_value: closeMatch http://identifiers.org/snomedct/154798006
property_value: closeMatch http://identifiers.org/snomedct/191194009
property_value: closeMatch http://identifiers.org/snomedct/191195005
property_value: closeMatch http://identifiers.org/snomedct/191199004
property_value: closeMatch http://identifiers.org/snomedct/276267006
property_value: closeMatch http://identifiers.org/snomedct/35434009
property_value: closeMatch http://identifiers.org/snomedct/417357006
property_value: closeMatch http://identifiers.org/snomedct/80046004
property_value: closeMatch NCIT:C34676
property_value: exactMatch DOID:10923
property_value: exactMatch http://identifiers.org/meddra/10040641
property_value: exactMatch http://identifiers.org/mesh/D000755
property_value: exactMatch http://identifiers.org/omim/603903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002895
property_value: exactMatch NCIT:C34383
property_value: exactMatch Orphanet:232

[Term]
id: MONDO:0011383
name: autoimmune lymphoproliferative syndrome type 2A
def: "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39576]
synonym: "ALPS-CASP10" EXACT [NCIT:C39576]
synonym: "ALPS2A" EXACT [DOID:0110115, MONDO:Lexical, OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [DOID:0110115]
synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome, type IIA; ALPS2A" RELATED [OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [NCIT:C39576]
synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 2 ALPS" EXACT [NCIT:C39576]
synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576]
xref: DOID:0110115 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="DOID:0110115"}
xref: MESH:C565833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C39576 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: OMIM:603909 {source="DOID:0110115", source="MONDO:equivalentTo"}
xref: UMLS:C1519709 {source="NCIT:C39576", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:C1858968 {source="OMIM:603909", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017979 {source="DC-OMIM:603909", source="DOID:0110115", source="MESH:C565833", source="MONDO:Redundant", source="MONDOLEX:0011383", source="NCIT:C39576"} ! autoimmune lymphoproliferative syndrome
property_value: exactMatch DOID:0110115
property_value: exactMatch http://identifiers.org/mesh/C565833
property_value: exactMatch http://identifiers.org/omim/603909
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858968
property_value: exactMatch NCIT:C39576

[Term]
id: MONDO:0011384
name: hypertension, essential, susceptibility to, 1
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 1" EXACT [OMIM:603918]
synonym: "hypertension, essential, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603918]
synonym: "Hyt1" RELATED [OMIM:603918]
xref: OMIM:603918 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0011384", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858967
property_value: exactMatch http://identifiers.org/omim/603918

[Term]
id: MONDO:0011385
name: intervertebral disc degenerative disorder
def: "Any disease of a degenerative nature that affects the intervertebral disc." [NCIT:C26983]
synonym: "cervical disc degenerative disease" NARROW [DOID:90, NCIT:C27156]
synonym: "degenerative disc disease" EXACT [DOID:90]
synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern]
synonym: "IDD" RELATED [MONDO:Lexical, OMIM:603932]
synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983]
synonym: "intervertebral disc degeneration" EXACT [DOID:90]
synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983]
synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983]
synonym: "intervertebral disc disease" EXACT [MONDO:Lexical, OMIM:603932]
synonym: "intervertebral disc disease; IDD" EXACT [OMIM:603932]
synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lumbar disc degeneration" NARROW [DOID:90]
synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983]
synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983]
synonym: "vertebral disc disease" EXACT [DOID:90]
xref: COHD:80816 {source="MONDO:equivalentTo"}
xref: DOID:90 {source="EFO:0004994", source="MONDO:equivalentTo"}
xref: ICD9:722.6 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D055959 {source="MONDO:equivalentTo"}
xref: NCIT:C26983 {source="MONDO:equivalentTo"}
xref: SCTID:77547008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.92"}
xref: UMLS:C0158266 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0024236 ! degenerative disorder
is_a: MONDO:0037847 ! vertebral joint disease
relationship: excluded_subClassOf MONDO:0000834 {source="DOID:90"} ! bone deterioration disease
property_value: closeMatch http://identifiers.org/snomedct/156633005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221775
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675551
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676840
property_value: exactMatch DOID:90
property_value: exactMatch http://identifiers.org/mesh/D055959
property_value: exactMatch http://identifiers.org/snomedct/77547008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158266
property_value: exactMatch NCIT:C26983

[Term]
id: MONDO:0011386
name: microvascular complications of diabetes, susceptibility to, 1
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, protection against" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility to, 1; MVCD1" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603933]
synonym: "MVCD1" RELATED [MONDO:Lexical, OMIM:603933]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "neuropathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "VEGFA microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:603933 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:603933", source="MONDO:Redundant", source="OMIM:603933"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676832
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676833
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676834
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676835
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676836
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676837
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676838
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676839
property_value: exactMatch http://identifiers.org/omim/603933

[Term]
id: MONDO:0011387
name: PSORS4
synonym: "psoriasis 4, susceptibility to" RELATED [MONDO:Lexical, OMIM:603935]
synonym: "psoriasis 4, susceptibility to; PSORS4" RELATED [OMIM:603935]
synonym: "PSORS4" EXACT [MONDO:Lexical, OMIM:603935]
xref: OMIM:603935 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:603935", source="OMIM:603935"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858958
property_value: exactMatch http://identifiers.org/omim/603935

[Term]
id: MONDO:0011388
name: obsolete cervical cancer
synonym: "cervical cancer" RELATED [OMIM:603956]
is_obsolete: true

[Term]
id: MONDO:0011389
name: autosomal dominant nonsyndromic deafness 16
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3." [DOID:0110547, PMID:10364526]
synonym: "autosomal dominant deafness 16" EXACT [DOID:0110547]
synonym: "autosomal dominant nonsyndromic deafness type 16" EXACT [DOID:0110547, MONDORULE:2]
synonym: "deafness, autosomal dominant 16" RELATED [MONDO:Lexical, OMIM:603964]
synonym: "deafness, autosomal dominant 16; DFNA16" RELATED [OMIM:603964]
synonym: "DFNA16" EXACT [DOID:0110547, MONDO:Lexical, OMIM:603964]
xref: DOID:0110547 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110547"}
xref: MESH:C565832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603964 {source="DOID:0110547", source="MONDO:equivalentTo"}
xref: UMLS:C1858916 {source="OMIM:603964", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:603964", source="DOID:0110547", source="OMIM:603964"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110547
property_value: exactMatch http://identifiers.org/mesh/C565832
property_value: exactMatch http://identifiers.org/omim/603964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858916

[Term]
id: MONDO:0011390
name: focal segmental glomerulosclerosis 2
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 2" EXACT [MONDO:Lexical, OMIM:603965]
synonym: "focal segmental glomerulosclerosis 2; FSGS2" RELATED [OMIM:603965]
synonym: "focal segmental glomerulosclerosis caused by mutation in TRPC6" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 2" EXACT [DOID:0111129, MONDORULE:1, OMIM:603965]
synonym: "FSGS2" EXACT [DOID:0111129, MONDO:Lexical, OMIM:603965]
synonym: "glomerulosclerosis, focal segmental, 2" RELATED [OMIM:603965]
synonym: "TRPC6 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111129 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111129"}
xref: MESH:C565831 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603965 {source="DOID:0111129", source="MONDO:equivalentTo"}
xref: UMLS:C1858915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603965"}
is_a: MONDO:0005363 {source="DC-OMIM:603965", source="DOID:0111129", source="MESH:C565831", source="MONDO:Redundant", source="MONDOLEX:0011390", source="OMIM:603965"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111129
property_value: exactMatch http://identifiers.org/mesh/C565831
property_value: exactMatch http://identifiers.org/omim/603965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858915

[Term]
id: MONDO:0011391
name: megalencephalic leukoencephalopathy with subcortical cysts
def: "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." [Orphanet:2478]
subset: gard_rare {source="GARD:0003445"}
subset: ordo_disease {source="Orphanet:2478"}
synonym: "megalencephalic leukodystrophy" EXACT [Orphanet:2478]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical, OMIM:604004]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 1" EXACT [MONDORULE:1, OMIM:604004]
synonym: "megalencephaly-cystic leukodystrophy" RELATED [GARD:0003445]
synonym: "megalencephaly-cystic leukodystrophy syndrome" EXACT [Orphanet:2478]
synonym: "MLC" EXACT [Orphanet:2478]
synonym: "MLC1" RELATED [MONDO:Lexical, OMIM:604004]
synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [Orphanet:2478]
synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478]
xref: DOID:0080315 {source="MONDO:equivalentTo"}
xref: GARD:0003445 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:2478", source="ORDO:2478/attributed", source="ORDO:2478/ntbt"}
xref: MESH:C536141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"}
xref: SCTID:703536004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN176898 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000137 {source="DC-OMIM:604004", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic
is_a: MONDO:0019046 {source="Orphanet:2478"} ! leukodystrophy
property_value: exactMatch DOID:0080315
property_value: exactMatch http://identifiers.org/mesh/C536141
property_value: exactMatch http://identifiers.org/snomedct/703536004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN176898
property_value: exactMatch Orphanet:2478
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts xsd:anyURI {source="GARD:0003445"}

[Term]
id: MONDO:0011392
name: autosomal recessive nonsyndromic deafness 20
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter." [DOID:0110478, PMID:10196710]
synonym: "autosomal recessive deafness 20" EXACT [DOID:0110478]
synonym: "autosomal recessive nonsyndromic deafness type 20" EXACT [DOID:0110478, MONDORULE:2]
synonym: "deafness, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:604060]
synonym: "deafness, autosomal recessive 20; DFNB20" RELATED [OMIM:604060]
synonym: "DFNB20" EXACT [DOID:0110478, MONDO:Lexical, OMIM:604060]
xref: DOID:0110478 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110478"}
xref: MESH:C565828 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604060 {source="DOID:0110478", source="MONDO:equivalentTo"}
xref: UMLS:C1858840 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604060"}
is_a: MONDO:0019588 {source="DC-OMIM:604060", source="DOID:0110478", source="OMIM:604060"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110478
property_value: exactMatch http://identifiers.org/mesh/C565828
property_value: exactMatch http://identifiers.org/omim/604060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858840

[Term]
id: MONDO:0011393
name: apolipoprotein A-I deficiency
def: "Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." [Orphanet:425]
subset: ordo_disease {source="Orphanet:425"}
synonym: "apoA-I deficiency" EXACT [Orphanet:425]
synonym: "familial apoA-I deficiency" EXACT [Orphanet:425]
synonym: "familial HDL deficiency" RELATED [OMIM:604091]
synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425]
synonym: "FHA" RELATED [GARD:0002872]
synonym: "FHD" RELATED [GARD:0002872]
synonym: "HDL cholesterol, Low serum" RELATED [OMIM:604091]
synonym: "HDLD" RELATED [GARD:0002872]
synonym: "high density lipoprotein deficiency" RELATED [OMIM:604091]
synonym: "hypoalphalipoproteinemia, familial" RELATED [OMIM:604091]
synonym: "hypoalphalipoproteinemia, primary" RELATED [OMIM:604091]
xref: GARD:0002872 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.6 {source="Orphanet:425", source="ORDO:425/attributed", source="ORDO:425/ntbt"}
xref: MedDRA:10065133 {source="ORDO:425/e", source="Orphanet:425"}
xref: OMIM:604091 {source="ORDO:425/e", source="Orphanet:425", source="MONDO:equivalentTo"}
xref: Orphanet:425 {source="OMIM:604091", source="MONDO:equivalentTo"}
is_a: MONDO:0017773 {source="Orphanet:425"} ! hypoalphalipoproteinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931838
property_value: exactMatch http://identifiers.org/meddra/10065133
property_value: exactMatch http://identifiers.org/omim/604091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704429
property_value: exactMatch Orphanet:425

[Term]
id: MONDO:0011394
name: obsolete keratosis pilaris atrophicans
is_obsolete: true
replaced_by: MONDO:0018855

[Term]
id: MONDO:0011395
name: cone-rod dystrophy 3
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010653"}
synonym: "ABCA4 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 3" EXACT [MONDO:Lexical, OMIM:604116]
synonym: "cone-rod dystrophy 3; CORD3" RELATED [OMIM:604116]
synonym: "cone-rod dystrophy caused by mutation in ABCA4" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 3" EXACT [DOID:0111013, MONDORULE:1, OMIM:604116]
synonym: "CORD3" EXACT [DOID:0111013, MONDO:Lexical, OMIM:604116]
xref: DOID:0111013 {source="MONDO:equivalentTo"}
xref: GARD:0010653 {source="MONDO:equivalentTo"}
xref: MESH:C565827 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604116 {source="MONDO:equivalentTo", source="DOID:0111013"}
xref: UMLS:C1858806 {source="MEDGEN:kboom-pr98-c99", source="OMIM:604116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:604116", source="DOID:0111013", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111013
property_value: exactMatch http://identifiers.org/mesh/C565827
property_value: exactMatch http://identifiers.org/omim/604116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858806
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3 xsd:anyURI {source="GARD:0010653"}

[Term]
id: MONDO:0011396
name: keratoderma hereditarium mutilans with ichthyosis
def: "Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma (see this term), characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis (see this term) and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." [Orphanet:79395]
subset: ordo_disease {source="Orphanet:79395"}
synonym: "Camisa disease" EXACT [Orphanet:79395]
synonym: "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome" EXACT [Orphanet:79395]
synonym: "Loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395]
synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117]
synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395]
synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117]
xref: ICD10:Q82.8 {source="ORDO:79395/attributed", source="ORDO:79395/ntbt", source="Orphanet:79395"}
xref: MESH:C565826 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604117 {source="MONDO:equivalentTo", source="ORDO:79395/e", source="Orphanet:79395"}
xref: Orphanet:79395 {source="OMIM:604117", source="MONDO:equivalentTo"}
xref: SCTID:717183001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.88"}
xref: UMLS:C1858805 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:604117", source="MONDO:equivalentTo", source="Orphanet:79395"}
is_a: MONDO:0017262 {source="Orphanet:79395"} ! inherited non-syndromic ichthyosis
is_a: MONDO:0017670 {source="Orphanet:79395"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma
is_a: MONDO:0020093 ! autosomal dominant isolated diffuse palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/mesh/C565826
property_value: exactMatch http://identifiers.org/omim/604117
property_value: exactMatch http://identifiers.org/snomedct/717183001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858805
property_value: exactMatch Orphanet:79395

[Term]
id: MONDO:0011397
name: autosomal dominant cerebellar ataxia, deafness and narcolepsy
def: "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." [Orphanet:314404]
subset: gard_rare {source="GARD:0012372"}
subset: ordo_disease {source="Orphanet:314404"}
synonym: "ADCA-DN" RELATED [GARD:0012372]
synonym: "ADCA-DN syndrome" EXACT [Orphanet:314404]
synonym: "ADCADN" RELATED [MONDO:Lexical, OMIM:604121]
synonym: "autosomal dominant cerebellar ataxia, deafness, and narcolepsy" RELATED [GARD:0012372]
synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" RELATED [GARD:0012372]
synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121]
synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN" RELATED [OMIM:604121]
xref: DOID:0050968 {source="MONDO:equivalentTo"}
xref: GARD:0012372 {source="MONDO:equivalentTo"}
xref: OMIM:604121 {source="ORDO:314404/e", source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968"}
xref: Orphanet:314404 {source="MONDO:equivalentTo", source="OMIM:604121"}
xref: UMLS:CN203753 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003406 {source="Orphanet:314404"} ! sleep-wake disorder
is_a: MONDO:0019589 {source="Orphanet:314404"} ! syndromic genetic deafness
is_a: MONDO:0019792 {source="Orphanet:314404"} ! autosomal dominant cerebellar ataxia type I
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858804
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807295
property_value: exactMatch DOID:0050968
property_value: exactMatch http://identifiers.org/omim/604121
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203753
property_value: exactMatch Orphanet:314404
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy xsd:anyURI {source="GARD:0012372"}

[Term]
id: MONDO:0011398
name: dystrophic epidermolysis bullosa pruriginosa
def: "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." [Orphanet:89843]
subset: ordo_disease {source="Orphanet:89843"}
synonym: "DEB, pruriginosa" EXACT [Orphanet:89843]
synonym: "Deb, pruriginosa" RELATED [OMIM:604129]
synonym: "DEB-Pr" EXACT [Orphanet:89843]
synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129]
synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129]
synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843]
xref: ICD10:Q81.2 {source="Orphanet:89843", source="ORDO:89843/attributed", source="ORDO:89843/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563192 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604129 {source="Orphanet:89843", source="MONDO:equivalentTo", source="ORDO:89843/e"}
xref: Orphanet:89843 {source="OMIM:604129", source="MONDO:equivalentTo"}
xref: SCTID:403810008 {source="MONDO:kboom-pr-1.00/0.77/7.51", source="MONDO:equivalentTo"}
xref: UMLS:C1275114 {source="Orphanet:89843", source="OMIM:604129", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017608 {source="Orphanet:89843"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://identifiers.org/mesh/C563192
property_value: exactMatch http://identifiers.org/omim/604129
property_value: exactMatch http://identifiers.org/snomedct/403810008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275114
property_value: exactMatch Orphanet:89843

[Term]
id: MONDO:0011399
name: alpha thalassemia
def: "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." [Orphanet:846]
subset: ordo_disease {source="Orphanet:846"}
synonym: "A-thalassemia" RELATED [GARD:0000621]
synonym: "Alpha thalassaemia" EXACT [DOID:1099]
synonym: "alpha-thalassemia" EXACT [DOID:1099]
xref: COHD:4287844 {source="MONDO:equivalentTo"}
xref: DOID:1099 {source="MONDO:equivalentTo"}
xref: GARD:0000621 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D56.0 {source="ORDO:846/e", source="DOID:1099", source="ORDO:846/specific", source="MONDO:equivalentTo", source="Orphanet:846"}
xref: ICD9:282.43 {source="DOID:1099"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043390 {source="ORDO:846/e", source="Orphanet:846"}
xref: MESH:D017085 {source="ORDO:846/e", source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846"}
xref: NCIT:C34368 {source="DOID:1099", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:604131 {source="ORDO:846/e", source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846"}
xref: Orphanet:846 {source="MONDO:equivalentTo", source="OMIM:604131"}
xref: SCTID:68913001 {source="DOID:1099", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.41"}
xref: UMLS:C0002312 {source="ORDO:846/e", source="DOID:1099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:846", source="NCIT:C34368", source="OMIM:604131"}
is_a: MONDO:0000984 {source="DOID:1099", source="ICD10:D56.0", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred", source="linkedlifedata"} ! thalassemia
is_a: MONDO:0017144 {source="Orphanet:846"} ! alpha-thalassemia and related diseases
is_a: MONDO:0019747 {source="Orphanet:846"} ! hematological disorder with renal involvement
property_value: closeMatch http://identifiers.org/snomedct/191186002
property_value: exactMatch DOID:1099
property_value: exactMatch http://identifiers.org/meddra/10043390
property_value: exactMatch http://identifiers.org/mesh/D017085
property_value: exactMatch http://identifiers.org/omim/604131
property_value: exactMatch http://identifiers.org/snomedct/68913001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456873
property_value: exactMatch NCIT:C34368
property_value: exactMatch Orphanet:846

[Term]
id: MONDO:0011400
name: dilated cardiomyopathy 1G
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1G" RELATED [MONDO:Lexical, OMIM:604145]
synonym: "cardiomyopathy, dilated, 1G; CMD1G" RELATED [OMIM:604145]
synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4, OMIM:604145]
synonym: "CMD1G" EXACT [DOID:0110430, MONDO:Lexical, OMIM:604145]
synonym: "dilated cardiomyopathy type 1G" EXACT [DOID:0110430, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "TTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110430 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110430"}
xref: MESH:C565824 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604145 {source="MONDO:equivalentTo", source="DOID:0110430"}
xref: UMLS:C1858763 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604145"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110430
property_value: exactMatch http://identifiers.org/mesh/C565824
property_value: exactMatch http://identifiers.org/omim/604145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858763

[Term]
id: MONDO:0011401
name: Alzheimer disease without neurofibrillary tangles
synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [OMIM:604154]
synonym: "Alzheimer's disease without neurofibrillary tangles" RELATED [GARD:0007190]
xref: GARD:0007190 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536599 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604154 {source="MONDO:equivalentTo"}
xref: UMLS:C1858751 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604154"}
is_a: MONDO:0004975 {source="DC-OMIM:604154", source="MESH:C536599", source="MONDOLEX:0011401"} ! Alzheimer disease
property_value: exactMatch http://identifiers.org/mesh/C536599
property_value: exactMatch http://identifiers.org/omim/604154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858751

[Term]
id: MONDO:0011402
name: congenital cataracts-facial dysmorphism-neuropathy syndrome
def: "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." [Orphanet:48431]
subset: ordo_malformation_syndrome {source="Orphanet:48431"}
synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168]
synonym: "CCFDN" EXACT [MONDO:Lexical, OMIM:604168, Orphanet:48431]
synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168]
synonym: "congenital cataracts, facial dysmorphism, and neuropathy; CCFDN" RELATED [OMIM:604168]
xref: ICD10:Q87.8 {source="ORDO:48431/attributed", source="ORDO:48431/ntbt", source="Orphanet:48431"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565822 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604168 {source="MONDO:equivalentTo", source="ORDO:48431/e", source="Orphanet:48431"}
xref: Orphanet:48431 {source="OMIM:604168", source="MONDO:equivalentTo"}
xref: SCTID:702433001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C1858726 {source="OMIM:604168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:48431"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:48431", source="Orphanet:485405", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000941 ! eyelid degenerative disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:48431", source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:48431"} ! syndromic developmental defect of the eye
is_a: MONDO:0015361 {source="Orphanet:48431"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0016136 {source="Orphanet:48431"} ! cerebellar ataxia with peripheral neuropathy
is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020046 {source="Orphanet:48431"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0020165 {source="Orphanet:48431"} ! syndromic epicanthus
is_a: MONDO:0020229 {source="Orphanet:48431"} ! cerebral disease with cataract
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C565822
property_value: exactMatch http://identifiers.org/omim/604168
property_value: exactMatch http://identifiers.org/snomedct/702433001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858726
property_value: exactMatch Orphanet:48431

[Term]
id: MONDO:0011403
name: left ventricular noncompaction 1
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DTNA left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "left ventricular noncompaction 1" EXACT [MONDO:Lexical, OMIM:604169]
synonym: "left ventricular noncompaction 1 with or without congenital heart defects" RELATED [OMIM:604169]
synonym: "left ventricular noncompaction 1; LVNC1" RELATED [OMIM:604169]
synonym: "left ventricular noncompaction caused by mutation in DTNA" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 1" EXACT [MONDORULE:1, OMIM:604169]
synonym: "LVNC1" RELATED [MONDO:Lexical, OMIM:604169]
xref: OMIM:604169 {source="MONDO:equivalentTo"}
xref: UMLS:C1858725 {source="OMIM:604169", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018901 {source="DC-OMIM:604169", source="MONDO:Redundant", source="MONDOLEX:0011403", source="OMIM:604169"} ! left ventricular noncompaction (disease)
property_value: exactMatch http://identifiers.org/omim/604169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858725

[Term]
id: MONDO:0011404
name: Caronte
comment: Editor note: TODO check
synonym: "Car" RELATED [OMIM:604172]
synonym: "Caronte" EXACT [OMIM:604172]
xref: OMIM:604172 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858724
property_value: exactMatch http://identifiers.org/omim/604172

[Term]
id: MONDO:0011405
name: poikiloderma with neutropenia
def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." [DOID:0060551, PMID:20734427]
subset: ordo_disease {source="Orphanet:221046"}
synonym: "Clericuzio type poikiloderma with neutropenia" RELATED [GARD:0004085]
synonym: "PN" RELATED [MONDO:Lexical, OMIM:604173]
synonym: "poikiloderma with neutropenia" EXACT [MONDO:Lexical, OMIM:604173]
synonym: "poikiloderma with neutropenia Clericuzio type" RELATED [GARD:0004085]
synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046]
synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173]
synonym: "poikiloderma with neutropenia; PN" RELATED [OMIM:604173]
xref: DOID:0060551 {source="MONDO:equivalentTo"}
xref: GARD:0004085 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="ORDO:221046/attributed", source="ORDO:221046/ntbt"}
xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="ORDO:221046/e", source="MONDO:equivalentTo"}
xref: Orphanet:221046 {source="DOID:0060551", source="MONDO:equivalentTo", source="OMIM:604173"}
is_a: MONDO:0016382 {source="Orphanet:221046"} ! hereditary poikiloderma
is_a: MONDO:0018032 {source="Orphanet:221046"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0024255 ! genetic skin disease
relationship: disease_has_feature MONDO:0001475 {source="Wikidata"} ! neutropenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858723
property_value: exactMatch DOID:0060551
property_value: exactMatch http://identifiers.org/omim/604173
property_value: exactMatch Orphanet:221046

[Term]
id: MONDO:0011406
name: cholesteatoma, congenital
synonym: "cholesteatoma, congenital" EXACT [OMIM:604183]
xref: MESH:C562858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604183 {source="MONDO:equivalentTo"}
xref: SCTID:232262007 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0395886
property_value: exactMatch http://identifiers.org/mesh/C562858
property_value: exactMatch http://identifiers.org/omim/604183
property_value: exactMatch http://identifiers.org/snomedct/232262007

[Term]
id: MONDO:0011407
name: facial paresis, hereditary congenital, 2
synonym: "facial paresis, hereditary congenital, 2" EXACT [MONDO:Lexical, OMIM:604185]
synonym: "facial paresis, hereditary congenital, 2; HCFP2" RELATED [OMIM:604185]
synonym: "HCFP2" RELATED [MONDO:Lexical, OMIM:604185]
synonym: "Mobius syndrome 3" RELATED [OMIM:604185]
synonym: "Mobius syndrome 3, formerly" RELATED [OMIM:604185]
synonym: "Moebius syndrome 3" RELATED [OMIM:604185]
synonym: "Moebius syndrome 3, formerly" RELATED [OMIM:604185]
xref: OMIM:604185 {source="MONDO:equivalentTo"}
xref: UMLS:C1858717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604185"}
is_a: MONDO:0017627 {source="ORDO:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome
property_value: exactMatch http://identifiers.org/omim/604185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858717

[Term]
id: MONDO:0011408
name: hereditary spastic paraplegia 10
def: "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." [Orphanet:100991]
subset: ordo_disease {source="Orphanet:100991"}
synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590]
synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763]
synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763]
synonym: "hereditary spastic paraplegia caused by mutation in KIF5A" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 10" EXACT [DOID:0110763, MONDORULE:2]
synonym: "KIF5A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 10" RELATED [GARD:0009590]
synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [OMIM:604187]
synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187]
synonym: "spastic paraplegia 10, autosomal dominant; SPG10" RELATED [OMIM:604187]
synonym: "SPG10" EXACT [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991]
xref: DOID:0110763 {source="MONDO:equivalentTo"}
xref: GARD:0009590 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:100991", source="ORDO:100991/attributed", source="ORDO:100991/ntbt", source="DOID:0110763"}
xref: MESH:C537482 {source="ORDO:100991/e", source="Orphanet:100991", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604187 {source="ORDO:100991/e", source="Orphanet:100991", source="MONDO:equivalentTo", source="DOID:0110763"}
xref: Orphanet:100991 {source="MONDO:equivalentTo", source="OMIM:604187", source="DOID:0110763"}
xref: SCTID:732948003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858712 {source="ORDO:100991/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100991", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604187"}
xref: UMLS:C4518536 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017914 {source="Orphanet:100991"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110763
property_value: exactMatch http://identifiers.org/mesh/C537482
property_value: exactMatch http://identifiers.org/omim/604187
property_value: exactMatch http://identifiers.org/snomedct/732948003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518536
property_value: exactMatch Orphanet:100991

[Term]
id: MONDO:0011409
name: hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection
subset: predisposition
synonym: "hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection" RELATED [OMIM:604201]
synonym: "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" EXACT [OMIM:604201]
synonym: "Sm2" RELATED [OMIM:604201]
xref: OMIM:604201 {source="MONDO:equivalentTo"}
is_a: MONDO:0000093 {source="DC-OMIM:604201"} ! Schistosoma mansoni infection, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858709
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751781
property_value: exactMatch http://identifiers.org/omim/604201

[Term]
id: MONDO:0011410
name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly
synonym: "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" EXACT [OMIM:604211]
xref: MESH:C565817 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604211 {source="MONDO:equivalentTo"}
xref: UMLS:C1858696 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604211"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565817
property_value: exactMatch http://identifiers.org/omim/604211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858696

[Term]
id: MONDO:0011411
name: Chudley-McCullough syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:314597"}
synonym: "Chudley-McCullough syndrome" EXACT [MONDO:Lexical, OMIM:604213]
synonym: "Chudley-McCullough syndrome; CMCS" RELATED [OMIM:604213]
synonym: "CMCS" RELATED [MONDO:Lexical, OMIM:604213]
synonym: "deafness, autosomal recessive 82" RELATED [OMIM:604213]
synonym: "deafness, autosomal recessive 82, formerly" RELATED [OMIM:604213]
synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" RELATED [GARD:0000086]
synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213]
xref: GARD:0000086 {source="MONDO:equivalentTo"}
xref: MESH:C535459 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604213 {source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597", source="ORDO:314597/e"}
xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"}
xref: UMLS:C1858695 {source="OMIM:604213", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597", source="ORDO:314597/e"}
is_a: MONDO:0017120 {source="Orphanet:314597"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019589 {source="Orphanet:314597"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535459
property_value: exactMatch http://identifiers.org/omim/604213
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858695
property_value: exactMatch Orphanet:314597

[Term]
id: MONDO:0011412
name: familial encephalopathy with neuroserpin inclusion bodies
subset: gard_rare {source="GARD:0010037"}
subset: ordo_disease {source="Orphanet:85110"}
synonym: "encephalopathy, familial, with Collins bodies" RELATED [OMIM:604218]
synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical, OMIM:604218]
synonym: "encephalopathy, familial, with neuroserpin inclusion bodies; FENIB" RELATED [OMIM:604218]
synonym: "FENIB" EXACT [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110]
xref: DOID:0050831 {source="MONDO:equivalentTo"}
xref: GARD:0010037 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="ORDO:85110/attributed", source="ORDO:85110/ntbt", source="Orphanet:85110"}
xref: ICD9:348.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536841 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:85110/e", source="Orphanet:85110"}
xref: OMIM:604218 {source="MONDO:equivalentTo", source="DOID:0050831", source="ORDO:85110/e", source="Orphanet:85110"}
xref: Orphanet:85110 {source="MONDO:equivalentTo", source="OMIM:604218"}
xref: SCTID:702421006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1858680 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604218", source="ORDO:85110/e", source="Orphanet:85110"}
is_a: MONDO:0020074 {source="Orphanet:85110"} ! progressive myoclonic epilepsy
property_value: exactMatch DOID:0050831
property_value: exactMatch http://identifiers.org/mesh/C536841
property_value: exactMatch http://identifiers.org/omim/604218
property_value: exactMatch http://identifiers.org/snomedct/702421006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858680
property_value: exactMatch Orphanet:85110
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies xsd:anyURI {source="GARD:0010037"}

[Term]
id: MONDO:0011413
name: cataract 9 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 1" NARROW [DOID:0110266]
synonym: "cataract (disease) caused by mutation in CRYAA" EXACT []
synonym: "cataract 9 multiple types with or without microcornea" EXACT [DOID:0110266]
synonym: "cataract 9, multiple types" RELATED [MONDO:Lexical, OMIM:604219]
synonym: "cataract 9, multiple types, with or without microcornea" RELATED [OMIM:604219]
synonym: "cataract 9, multiple types; CTRCT9" RELATED [OMIM:604219]
synonym: "cataract, autosomal dominant" RELATED [OMIM:604219]
synonym: "cataract, autosomal recessive congenital 1" RELATED [OMIM:604219]
synonym: "CATC1" NARROW [DOID:0110266]
synonym: "CRYAA cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT9" EXACT [DOID:0110266, MONDO:Lexical, OMIM:604219]
xref: DOID:0110266 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110266"}
xref: OMIM:604219 {source="MONDO:equivalentTo", source="DOID:0110266"}
xref: UMLS:C1858679 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604219"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110266", source="MONDO:Redundant", source="OMIM:604219"} ! cataract (disease)
relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome
property_value: exactMatch DOID:0110266
property_value: exactMatch http://identifiers.org/omim/604219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858679

[Term]
id: MONDO:0011414
name: Peters anomaly (disease)
def: "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." [Orphanet:708]
subset: ordo_morphological_anomaly {source="Orphanet:708"}
synonym: "anterior segment dysgenesis 5" RELATED [OMIM:604229]
synonym: "anterior segment dysgenesis 5; ASGD5" RELATED [OMIM:604229]
synonym: "ASGD5" RELATED [OMIM:604229]
synonym: "Peters anomaly" EXACT [MONDO:ambiguous]
synonym: "Peters anomaly" RELATED [OMIM:604229]
synonym: "Peters congenital glaucoma" EXACT [Orphanet:708]
xref: DOID:0060673 {source="MONDO:equivalentTo"}
xref: GARD:0007377 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0000659 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q13.4 {source="DOID:0060673", source="ORDO:708/ntbt", source="Orphanet:708", source="ORDO:708/inclusion"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059202 {source="ORDO:708/e", source="Orphanet:708"}
xref: MESH:C537884 {source="DOID:0060673", source="MONDO:equivalentTo", source="ORDO:708/e", source="Orphanet:708", source="MONDO:ontobio"}
xref: OMIM:604229 {source="DOID:0060673", source="MONDO:equivalentTo", source="ORDO:708/e", source="Orphanet:708"}
xref: Orphanet:708 {source="DOID:0060673", source="MONDO:equivalentTo", source="OMIM:604229"}
xref: SCTID:204153003 {source="MONDO:kboom-pr-1.00/0.79/8.57", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:0060673", source="MESH:C537884/inferred"} ! corneal disease
is_a: MONDO:0019503 {source="DC-OMIM:604229", source="OMIM:604229"} ! anterior segment dysgenesis
is_a: MONDO:0020220 {source="Orphanet:708"} ! corneoiridogoniodysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344559
property_value: exactMatch DOID:0060673
property_value: exactMatch http://identifiers.org/meddra/10059202
property_value: exactMatch http://identifiers.org/mesh/C537884
property_value: exactMatch http://identifiers.org/omim/604229
property_value: exactMatch http://identifiers.org/snomedct/204153003
property_value: exactMatch Orphanet:708

[Term]
id: MONDO:0011415
name: Leber congenital amaurosis 3
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009661"}
synonym: "amaurosis congenita of Leber, type 3" RELATED [GARD:0009661]
synonym: "LCA3" EXACT [DOID:0110331, MONDO:Lexical, OMIM:604232]
synonym: "Leber congenital amaurosis 3" EXACT [MONDO:Lexical, OMIM:604232]
synonym: "Leber congenital amaurosis 3; LCA3" RELATED [OMIM:604232]
synonym: "Leber congenital amaurosis caused by mutation in SPATA7" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 3" EXACT [DOID:0110331, MONDORULE:1, OMIM:604232]
synonym: "retinitis pigmentosa, juvenile, Spata7-related" RELATED [OMIM:604232]
synonym: "SPATA7 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110331 {source="MONDO:equivalentTo"}
xref: GARD:0009661 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110331"}
xref: MESH:C565814 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604232 {source="MONDO:equivalentTo", source="DOID:0110331"}
is_a: MONDO:0018998 {source="DC-OMIM:604232", source="DOID:0110331", source="MESH:C565814", source="MONDO:Redundant", source="OMIM:604232"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858677
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751780
property_value: exactMatch DOID:0110331
property_value: exactMatch http://identifiers.org/mesh/C565814
property_value: exactMatch http://identifiers.org/omim/604232
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3 xsd:anyURI {source="GARD:0009661"}

[Term]
id: MONDO:0011416
name: generalized epilepsy with febrile seizures plus, type 1
synonym: "Gefs+, type 1" RELATED [OMIM:604233]
synonym: "GEFSP1" RELATED [MONDO:Lexical, OMIM:604233]
synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [MONDO:Lexical, OMIM:604233]
synonym: "generalized epilepsy with febrile seizures plus, type 1; GEFSP1" RELATED [OMIM:604233]
xref: MESH:C565809 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604233 {source="MONDO:equivalentTo"}
xref: UMLS:C1858672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604233"}
is_a: MONDO:0018214 {source="DC-OMIM:604233", source="OMIM:604233"} ! generalized epilepsy with febrile seizures plus
property_value: exactMatch http://identifiers.org/mesh/C565809
property_value: exactMatch http://identifiers.org/omim/604233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858672

[Term]
id: MONDO:0011417
name: hemochromatosis type 3
def: "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:225123]
subset: gard_rare {source="GARD:0010093"}
subset: ordo_disease {source="Orphanet:225123"}
synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030]
synonym: "hemochromatosis due to defect in transferrin receptor 2" RELATED [OMIM:604250]
synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical, OMIM:604250]
synonym: "hemochromatosis, type 3; HFE3" RELATED [OMIM:604250]
synonym: "hereditary hemochromatosis caused by mutation in TFR2" EXACT [MONDO:design_pattern]
synonym: "HFE3" EXACT [DOID:0111030, MONDO:Lexical, OMIM:604250]
synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123]
xref: DOID:0111030 {source="MONDO:equivalentTo"}
xref: GARD:0010093 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="DOID:0111030", source="ORDO:225123/attributed", source="ORDO:225123/ntbt", source="Orphanet:225123"}
xref: MESH:C537248 {source="DOID:0111030", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:225123", source="ORDO:225123/e"}
xref: OMIM:604250 {source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123", source="ORDO:225123/e"}
xref: Orphanet:225123 {source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250"}
xref: SCTID:719974003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1858664 {source="NCBI:mim2gene_medline", source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250", source="Orphanet:225123", source="ORDO:225123/e"}
is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="Orphanet:225123", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0016363"} ! rare
property_value: exactMatch DOID:0111030
property_value: exactMatch http://identifiers.org/mesh/C537248
property_value: exactMatch http://identifiers.org/omim/604250
property_value: exactMatch http://identifiers.org/snomedct/719974003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858664
property_value: exactMatch Orphanet:225123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 xsd:anyURI {source="GARD:0010093"}

[Term]
id: MONDO:0011418
name: dyslexia, susceptibility to, 3
subset: predisposition
synonym: "dyslexia, susceptibility to, 3" RELATED [OMIM:604254]
synonym: "dyslexia, susceptibility to, 3; DYX3" RELATED [OMIM:604254]
synonym: "DYX3" EXACT [MONDO:Lexical, OMIM:604254]
xref: OMIM:604254 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:604254"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858662
property_value: exactMatch http://identifiers.org/omim/604254

[Term]
id: MONDO:0011419
name: camera-Marugo-Cohen syndrome
subset: gard_rare {source="GARD:0008413"}
synonym: "camera Marugo Cohen syndrome" RELATED [GARD:0008413]
synonym: "camera-Marugo-Cohen syndrome" EXACT [OMIM:604257]
synonym: "obesity, mental retardation, body asymmetry, and muscle weakness" RELATED [GARD:0008413]
xref: GARD:0008413 {source="MONDO:equivalentTo"}
xref: MESH:C537964 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604257 {source="MONDO:equivalentTo"}
xref: UMLS:C1858661 {source="OMIM:604257", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537964
property_value: exactMatch http://identifiers.org/omim/604257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858661
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome xsd:anyURI {source="GARD:0008413"}

[Term]
id: MONDO:0011420
name: short stature due to partial GHR deficiency
def: "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." [Orphanet:314802]
subset: ordo_disease {source="Orphanet:314802"}
synonym: "GHIP" RELATED [MESH:C565805, MONDO:Lexical, OMIM:604271]
synonym: "Growth hormone deficiency, isolated, partial" RELATED [MESH:C565805]
synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Lexical, OMIM:604271]
synonym: "growth hormone insensitivity, partial; GHIP" RELATED [OMIM:604271]
synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805]
synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271]
synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802]
xref: ICD10:E34.3 {source="ORDO:314802/attributed", source="ORDO:314802/ntbt", source="Orphanet:314802"}
xref: MESH:C565805 {source="MONDO:equivalentTo"}
xref: OMIM:604271 {source="ORDO:314802/e", source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802"}
xref: Orphanet:314802 {source="MONDO:equivalentTo", source="OMIM:604271"}
is_a: MONDO:0006909 {source="MESH:C565805"} ! pituitary dwarfism
is_a: MONDO:0015892 {source="Orphanet:314802"} ! growth hormone insensitivity syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858656
property_value: exactMatch http://identifiers.org/mesh/C565805
property_value: exactMatch http://identifiers.org/omim/604271
property_value: exactMatch Orphanet:314802

[Term]
id: MONDO:0011421
name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
subset: prototype_pattern
synonym: "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Complex 5 mitochondrial respiratory chain deficiency" RELATED [GARD:0001459]
synonym: "MC5DN1" EXACT [DOID:0050768, MONDO:Lexical, OMIM:604273]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATED [OMIM:604273]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" RELATED [OMIM:604273]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT [MONDO:Lexical, OMIM:604273]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1" RELATED [OMIM:604273]
synonym: "mitochondrial complex V deficiency" BROAD [GARD:0001459]
synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern]
xref: DOID:0050768 {source="MONDO:equivalentTo"}
xref: GARD:0001459 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="DOID:0050768"}
xref: OMIM:604273 {source="MONDO:equivalentTo", source="DOID:0050768"}
xref: UMLS:C3276276 {source="MONDO:equivalentTo", source="OMIM:604273"}
is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency
is_a: MONDO:0014471 {source="DOID:0050768", source="MONDOLEX:0011421", source="ORDO:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700431
property_value: exactMatch DOID:0050768
property_value: exactMatch http://identifiers.org/omim/604273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276276
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency xsd:anyURI {source="GARD:0001459"}

[Term]
id: MONDO:0011422
name: autosomal recessive proximal renal tubular acidosis
def: "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." [Orphanet:93607]
subset: ordo_clinical_subtype {source="Orphanet:93607"}
synonym: "AR pRTA" EXACT [Orphanet:93607]
synonym: "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" EXACT [Orphanet:93607]
synonym: "proximal renal tubular acidosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED [OMIM:604278]
synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278]
xref: MESH:C567038 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604278 {source="MONDO:equivalentTo", source="ORDO:93607/e", source="Orphanet:93607"}
xref: Orphanet:93607 {source="OMIM:604278", source="MONDO:equivalentTo"}
xref: UMLS:C1970309 {source="OMIM:604278", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:93607"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0008369 {source="MONDO:Redundant", source="MONDOLEX:0011422", source="Orphanet:93607"} ! proximal renal tubular acidosis
property_value: exactMatch http://identifiers.org/mesh/C567038
property_value: exactMatch http://identifiers.org/omim/604278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970309
property_value: exactMatch Orphanet:93607

[Term]
id: MONDO:0011423
name: autosomal recessive limb-girdle muscular dystrophy type 2E
def: "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." [Orphanet:119]
subset: gard_rare
subset: ordo_disease {source="Orphanet:119"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern]
synonym: "Beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851]
synonym: "beta-sarcoglycanopathy" BROAD [DOID:0110279, Orphanet:119]
synonym: "LGMD2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286, Orphanet:119]
synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [DOID:0110279, Orphanet:119]
synonym: "limb-girdle muscular dystrophy type 2E" RELATED [GARD:0003851]
synonym: "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" RELATED [GARD:0003851]
synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286]
synonym: "muscular dystrophy, limb-girdle, type 2E; LGMD2E" RELATED [OMIM:604286]
synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110279 {source="MONDO:equivalentTo"}
xref: GARD:0000870 {source="MONDO:subClassOf"}
xref: GARD:0003851 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:119", source="ORDO:119/inclusion", source="ORDO:119/ntbt", source="DOID:0110279"}
xref: OMIM:604286 {source="ORDO:119/e", source="Orphanet:119", source="MONDO:equivalentTo", source="DOID:0110279"}
xref: Orphanet:119 {source="MONDO:equivalentTo", source="OMIM:604286", source="DOID:0110279"}
xref: SCTID:718850008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0015152 {source="DOID:0110279", source="MONDO:Redundant", source="MONDOLEX:0011423", source="OMIM:604286", source="Orphanet:119"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016142 {source="MONDOLEX:0011423", source="Orphanet:119"} ! qualitative or quantitative defects of beta-sarcoglycan
is_a: MONDO:0016334 {source="Orphanet:119"} ! neuromuscular disease with dilated cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858593
property_value: exactMatch DOID:0110279
property_value: exactMatch http://identifiers.org/omim/604286
property_value: exactMatch http://identifiers.org/snomedct/718850008
property_value: exactMatch Orphanet:119

[Term]
id: MONDO:0011424
name: Carney triad
def: "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." [Orphanet:139411]
subset: gard_rare {source="GARD:0010924"}
subset: ordo_disease {source="Orphanet:139411"}
synonym: "Carney triad" EXACT [OMIM:604287]
synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287]
xref: GARD:0010924 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="ORDO:139411/attributed", source="ORDO:139411/ntbt", source="Orphanet:139411"}
xref: MESH:C565803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94833 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:604287 {source="MONDO:equivalentTo", source="Orphanet:139411", source="ORDO:139411/e"}
xref: Orphanet:139411 {source="MONDO:equivalentTo", source="OMIM:604287"}
xref: SCTID:733492003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858592 {source="NCIT:C94833", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139411", source="OMIM:604287"}
is_a: MONDO:0015079 {source="Orphanet:139411"} ! multiple polyglandular tumor
is_a: MONDO:0021058 {source="NCIT:C94833"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0000550 ! extra-adrenal sympathetic paraganglioma
relationship: disease_has_feature MONDO:0011719 ! gastrointestinal stromal tumor
relationship: disease_has_feature MONDO:0021117 ! lung neoplasm
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C565803
property_value: exactMatch http://identifiers.org/omim/604287
property_value: exactMatch http://identifiers.org/snomedct/733492003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858592
property_value: exactMatch NCIT:C94833
property_value: exactMatch Orphanet:139411
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10924/carney-triad xsd:anyURI {source="GARD:0010924"}

[Term]
id: MONDO:0011425
name: dilated cardiomyopathy 1H
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22." [DOID:0110429, PMID:10486326]
synonym: "cardiomyopathy, dilated, 1H" RELATED [MONDO:Lexical, OMIM:604288]
synonym: "cardiomyopathy, dilated, 1H; CMD1H" RELATED [OMIM:604288]
synonym: "cardiomyopathy, dilated, with conduction defect" RELATED [OMIM:604288]
synonym: "CMD1H" EXACT [DOID:0110429, MONDO:Lexical, OMIM:604288]
synonym: "dilated cardiomyopathy type 1H" EXACT [DOID:0110429, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect" EXACT [DOID:0110429]
xref: DOID:0110429 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110429"}
xref: MESH:C536277 {source="MONDO:equivalentTo"}
xref: OMIM:604288 {source="MONDO:equivalentTo", source="DOID:0110429"}
xref: UMLS:C1858591 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604288"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110429
property_value: exactMatch http://identifiers.org/mesh/C536277
property_value: exactMatch http://identifiers.org/omim/604288
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858591

[Term]
id: MONDO:0011426
name: aceruloplasminemia
def: "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." [Orphanet:48818]
subset: gard_rare {source="GARD:0009499"}
subset: ordo_disease {source="Orphanet:48818"}
synonym: "aceruloplasminemia" EXACT [OMIM:604290]
synonym: "ceruloplasmin deficiency" RELATED [OMIM:604290]
synonym: "familial apoceruloplasmin deficiency" RELATED [GARD:0009499]
synonym: "hemosiderosis, systemic, due to aceruloplasminemia" RELATED [OMIM:604290]
synonym: "hereditary ceruloplasmin deficiency" EXACT [Orphanet:48818]
synonym: "hypoceruloplasminemia" RELATED [OMIM:604290]
synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499]
xref: DOID:0050711 {source="MONDO:equivalentTo"}
xref: GARD:0009499 {source="MONDO:equivalentTo"}
xref: ICD10:G23.0 {source="ORDO:48818/attributed", source="ORDO:48818/ntbt", source="Orphanet:48818"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:604290 {source="ORDO:48818/e", source="DOID:0050711", source="MONDO:equivalentTo", source="Orphanet:48818"}
xref: Orphanet:48818 {source="MONDO:equivalentTo", source="OMIM:604290"}
xref: SCTID:124224004 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017763 {source="Orphanet:48818"} ! disorder of iron metabolism and transport
is_a: MONDO:0018307 {source="Orphanet:48818"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! inherited retinal dystrophy
is_a: MONDO:0020098 {source="Orphanet:48818"} ! constitutional anemia due to iron metabolism disorder
is_a: MONDO:0020281 {source="Orphanet:48818"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878682
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858583
property_value: exactMatch DOID:0050711
property_value: exactMatch http://identifiers.org/mesh/C536004
property_value: exactMatch http://identifiers.org/omim/604290
property_value: exactMatch http://identifiers.org/snomedct/124224004
property_value: exactMatch Orphanet:48818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia xsd:anyURI {source="GARD:0009499"}

[Term]
id: MONDO:0011427
name: Ascaris lumbricoides infection, susceptibility to
subset: predisposition
synonym: "ascariasis, susceptibility to" RELATED [OMIM:604291]
synonym: "Ascaris lumbricoides infection, susceptibility to" EXACT [OMIM:604291]
xref: OMIM:604291 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858580
property_value: exactMatch http://identifiers.org/omim/604291

[Term]
id: MONDO:0011428
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
def: "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3" EXACT [DOID:0060783, MONDORULE:1]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" RELATED [MONDO:Lexical, OMIM:604292]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3; EEC3" RELATED [OMIM:604292]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1, OMIM:604292]
synonym: "EEC syndrome 3" EXACT [DOID:0060783, OMIM:604292]
synonym: "EEC syndrome caused by mutation in TP63" EXACT [MONDO:design_pattern]
synonym: "EEC3" EXACT [DOID:0060783, MONDO:Lexical, OMIM:604292]
synonym: "TP63 EEC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060783 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="DOID:0060783"}
xref: MESH:C565799 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604292 {source="DOID:0060783", source="MONDO:equivalentTo"}
is_a: MONDO:0010004 {source="DC-OMIM:604292", source="DOID:0060783", source="MONDO:Redundant"} ! EEC syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858562
property_value: exactMatch DOID:0060783
property_value: exactMatch http://identifiers.org/mesh/C565799
property_value: exactMatch http://identifiers.org/omim/604292

[Term]
id: MONDO:0011429
name: juvenile idiopathic arthritis
def: "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." [Orphanet:92]
subset: ordo_group_of_disorders {source="Orphanet:92"}
synonym: "acute juvenile rheumatoid arthritis" NARROW [DOID:676]
synonym: "JIA" EXACT [NCIT:C114357]
synonym: "juvenile chronic arthritis" RELATED [Orphanet:92]
synonym: "juvenile chronic polyarthritis" RELATED [DOID:676]
synonym: "Juvenile idiopathic arthritis" EXACT [NCIT:C114357]
synonym: "juvenile idiopathic arthritis" EXACT [DOID:676]
synonym: "juvenile rheumatoid arthritis" EXACT DEPRECATED [Orphanet:92]
synonym: "monarticular juvenile rheumatoid arthritis" NARROW [DOID:676]
synonym: "pauciarticular juvenile arthritis" NARROW [DOID:676]
synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [DOID:676]
synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302]
synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302]
xref: COHD:75622 {source="MONDO:equivalentTo"}
xref: DOID:676 {source="MONDO:equivalentTo"}
xref: ICD10:M08.0 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD10:M08.1 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD10:M08.2 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD10:M08.3 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD10:M08.4 {source="ORDO:92/btnt", source="DOID:676", source="MONDO:relatedTo", source="Orphanet:92"}
xref: ICD10:M08.40 {source="DOID:676"}
xref: ICD10:M08.8 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD10:M08.9 {source="ORDO:92/btnt", source="Orphanet:92"}
xref: ICD9:714.3 {source="DOID:676"}
xref: ICD9:714.31 {source="DOID:676"}
xref: ICD9:714.32 {source="DOID:676", source="MONDO:relatedTo"}
xref: ICD9:714.33 {source="DOID:676"}
xref: MedDRA:10059177 {source="Orphanet:92", source="ORDO:92/e"}
xref: MESH:D001171 {source="DOID:676", source="MONDO:equivalentTo", source="Orphanet:92", source="ORDO:92/e"}
xref: NCIT:C114357 {source="MONDO:equivalentTo"}
xref: OMIM:604302 {source="DOID:676", source="MONDO:equivalentTo"}
xref: Orphanet:92 {source="DOID:676", source="MONDO:equivalentTo"}
xref: SCTID:410502007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.66"}
is_a: MONDO:0005578 {source="DOID:676/inferred", source="MESH:D001171", source="NCIT:C114357", source="linkedlifedata/inferred"} ! arthritis
relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:92"} ! secondary interstitial lung disease specific to childhood associated with a connective tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/201798003
property_value: closeMatch http://identifiers.org/snomedct/201799006
property_value: closeMatch http://identifiers.org/snomedct/201803007
property_value: closeMatch http://identifiers.org/snomedct/201809006
property_value: closeMatch http://identifiers.org/snomedct/7441009
property_value: closeMatch http://identifiers.org/snomedct/75822003
property_value: closeMatch http://identifiers.org/snomedct/83793004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157916
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157917
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157918
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409667
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858558
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495559
property_value: closeMatch NCIT:C61279
property_value: exactMatch DOID:676
property_value: exactMatch http://identifiers.org/meddra/10059177
property_value: exactMatch http://identifiers.org/mesh/D001171
property_value: exactMatch http://identifiers.org/omim/604302
property_value: exactMatch http://identifiers.org/snomedct/410502007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1444838
property_value: exactMatch NCIT:C114357
property_value: exactMatch Orphanet:92

[Term]
id: MONDO:0011430
name: pulverulent cataract
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33." [DOID:0110235, PMID:10521291]
subset: ordo_clinical_subtype {source="Orphanet:98984"}
synonym: "cataract 2 multiple types" RELATED [DOID:0110235]
synonym: "cataract 2 multiple types with or without microcornea" EXACT [DOID:0110235]
synonym: "cataract 2, multiple types" RELATED [MONDO:Lexical, OMIM:604307]
synonym: "cataract 2, multiple types, with or without microcornea" RELATED [OMIM:604307]
synonym: "cataract 2, multiple types; CTRCT2" RELATED [OMIM:604307]
synonym: "cataract, Coppock-like" RELATED [OMIM:604307]
synonym: "Coppock-like cataract" EXACT [Orphanet:98984]
synonym: "CTRCT2" EXACT [DOID:0110235, MONDO:Lexical, OMIM:604307]
synonym: "dusty cataract" EXACT [Orphanet:98984]
synonym: "pulverulent cataract" EXACT [Orphanet:98984]
xref: DOID:0110235 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="Orphanet:98984", source="ORDO:98984/attributed", source="ORDO:98984/ntbt", source="DOID:0110235"}
xref: MESH:C565133 {source="MONDO:equivalentTo"}
xref: OMIM:604307 {source="MONDO:equivalentTo", source="DOID:0110235"}
xref: Orphanet:98984 {source="MONDO:equivalentTo", source="OMIM:604307"}
xref: Orphanet:98986 {source="MONDO:obsoleteEquivalent", source="OMIM:604307"}
xref: UMLS:C1833118 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:98984", source="MONDO:equivalentTo"}
xref: UMLS:C1852438 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:98984", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604307"}
xref: UMLS:CN207240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110235
property_value: exactMatch http://identifiers.org/mesh/C565133
property_value: exactMatch http://identifiers.org/omim/604307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207240
property_value: exactMatch Orphanet:98984
property_value: exactMatch Orphanet:98986

[Term]
id: MONDO:0011431
name: MASS syndrome
def: "MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse , nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome . Treatment is based on the individuals symptoms." [https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome]
subset: gard_rare {source="GARD:0008489"}
synonym: "MASS phenotype" EXACT [OMIM:604308]
synonym: "MASS syndrome" EXACT [OMIM:604308]
synonym: "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" RELATED [GARD:0008489]
synonym: "OCTD" RELATED [GARD:0008489]
synonym: "overlap connective tissue disease" RELATED [OMIM:604308]
xref: GARD:0008489 {source="MONDO:equivalentTo"}
xref: MESH:C536030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604308 {source="MONDO:equivalentTo"}
xref: Orphanet:99715 {source="MONDO:obsoleteEquivalent", source="OMIM:604308"}
xref: UMLS:C1858556 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604308"}
is_a: MONDO:0016663 ! overlapping connective tissue disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
property_value: exactMatch http://identifiers.org/mesh/C536030
property_value: exactMatch http://identifiers.org/omim/604308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858556
property_value: exactMatch Orphanet:99715
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome xsd:anyURI {source="GARD:0008489"}

[Term]
id: MONDO:0011432
name: blepharophimosis - intellectual disability syndrome, Verloes type
subset: ordo_malformation_syndrome {source="Orphanet:293725"}
synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED [OMIM:604314]
synonym: "blepharophimosis-intellectual disability syndrome type V" EXACT [Orphanet:293725]
synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED [OMIM:604314]
synonym: "BMRS type V" EXACT [Orphanet:293725]
synonym: "BMRS, Verloes type" EXACT [Orphanet:293725]
xref: MESH:C565797 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="ORDO:293725/e"}
xref: Orphanet:293725 {source="OMIM:604314", source="MONDO:equivalentTo"}
xref: UMLS:C1858538 {source="Orphanet:293725", source="MEDGEN:kboom-pr98-c99", source="OMIM:604314", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017393 {source="Orphanet:293725"} ! blepharophimosis - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C565797
property_value: exactMatch http://identifiers.org/omim/604314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858538
property_value: exactMatch Orphanet:293725

[Term]
id: MONDO:0011433
name: anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome
synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" EXACT [OMIM:604315]
xref: MESH:C565796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604315 {source="MONDO:equivalentTo"}
xref: UMLS:C1858537 {source="NCBI:mim2gene_medline", source="OMIM:604315", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565796
property_value: exactMatch http://identifiers.org/omim/604315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858537

[Term]
id: MONDO:0011434
name: PSORS5
synonym: "psoriasis 5, susceptibility to" RELATED [MONDO:Lexical, OMIM:604316]
synonym: "psoriasis 5, susceptibility to; PSORS5" RELATED [OMIM:604316]
synonym: "PSORS5" EXACT [MONDO:Lexical, OMIM:604316]
xref: OMIM:604316 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:604316", source="OMIM:604316"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858536
property_value: exactMatch http://identifiers.org/omim/604316

[Term]
id: MONDO:0011435
name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations
synonym: "MCPH2" RELATED [MONDO:Lexical, OMIM:604317]
synonym: "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" EXACT [MONDO:Lexical, OMIM:604317]
synonym: "microcephaly 2, primary, autosomal recessive, with or without cortical malformations; MCPH2" RELATED [OMIM:604317]
xref: DOID:0070293 {source="MONDO:equivalentTo"}
xref: MESH:C565794 {source="MONDO:equivalentTo"}
xref: OMIM:604317 {source="MONDO:equivalentTo"}
xref: UMLS:C1858535 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604317"}
is_a: MONDO:0016660 {source="DC-OMIM:604317", source="OMIM:604317"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070293
property_value: exactMatch http://identifiers.org/mesh/C565794
property_value: exactMatch http://identifiers.org/omim/604317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858535

[Term]
id: MONDO:0011436
name: autosomal recessive distal spinal muscular atrophy 1
def: "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." [Orphanet:98920]
subset: ordo_disease {source="Orphanet:98920"}
synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [DOID:0111064, MONDORULE:1, Orphanet:98920]
synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [DOID:0111064, Orphanet:98920]
synonym: "dHMN6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "diaphragmatic spinal muscular atrophy" EXACT [DOID:0111064, Orphanet:98920]
synonym: "distal hereditary motor neuropathy type 6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "distal-HMN type 6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "DSMA1" EXACT [DOID:0111064, MONDO:Lexical, OMIM:604320]
synonym: "dSMA1" EXACT [Orphanet:98920]
synonym: "HMN 6" RELATED [OMIM:604320]
synonym: "HMN VI" RELATED [GARD:0008592]
synonym: "Hmn6" RELATED [OMIM:604320]
synonym: "IGHMBP2 spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [OMIM:604320]
synonym: "neuronopathy, distal hereditary motor, type VI" RELATED [GARD:0008592]
synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [OMIM:604320]
synonym: "severe infantile axonal neuropathy with respiratory failure" RELATED [OMIM:604320]
synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [DOID:0111064, Orphanet:98920]
synonym: "SIANRF" EXACT [DOID:0111064, Orphanet:98920]
synonym: "SMARD1" EXACT [DOID:0111064, Orphanet:98920]
synonym: "spinal muscular atrophy caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern]
synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [OMIM:604320]
synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064]
synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:604320]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 1; DSMA1" RELATED [OMIM:604320]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320]
xref: DOID:0111064 {source="MONDO:equivalentTo"}
xref: GARD:0008592 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:98920", source="DOID:0111064", source="ORDO:98920/attributed", source="ORDO:98920/ntbt"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536880 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604320 {source="ORDO:98920/e", source="Orphanet:98920", source="MONDO:equivalentTo", source="DOID:0111064"}
xref: Orphanet:98920 {source="MONDO:equivalentTo", source="DOID:0111064", source="OMIM:604320"}
xref: SCTID:711483003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1858517 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:98920", source="MONDO:equivalentTo", source="OMIM:604320"}
is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="MONDOLEX:0011436", source="Orphanet:98920"} ! autosomal recessive distal hereditary motor neuropathy
property_value: exactMatch DOID:0111064
property_value: exactMatch http://identifiers.org/mesh/C536880
property_value: exactMatch http://identifiers.org/omim/604320
property_value: exactMatch http://identifiers.org/snomedct/711483003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858517
property_value: exactMatch Orphanet:98920

[Term]
id: MONDO:0011437
name: microcephaly 4, primary, autosomal recessive
synonym: "MCPH4" RELATED [MONDO:Lexical, OMIM:604321]
synonym: "microcephaly 4, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604321]
synonym: "microcephaly 4, primary, autosomal recessive; MCPH4" RELATED [OMIM:604321]
xref: DOID:0070291 {source="MONDO:equivalentTo"}
xref: MESH:C565792 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604321 {source="MONDO:equivalentTo"}
xref: UMLS:C1858516 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604321"}
is_a: MONDO:0016660 {source="DC-OMIM:604321", source="OMIM:604321"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070291
property_value: exactMatch http://identifiers.org/mesh/C565792
property_value: exactMatch http://identifiers.org/omim/604321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858516

[Term]
id: MONDO:0011438
name: acne (disease)
def: "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." [NCIT:P378]
synonym: "acne" EXACT [MONDO:ambiguous]
synonym: "acne varioliformis" EXACT [DOID:6543, ICD9CM_2006:706.0]
synonym: "acne vulgaris" EXACT [DOID:6543]
synonym: "acne, ADULT" RELATED [OMIM:604324]
synonym: "frontalis acne" EXACT [DOID:6543]
xref: COHD:138826 {source="MONDO:equivalentTo"}
xref: DOID:6543 {source="EFO:0003894", source="MONDO:equivalentTo"}
xref: EFO:0003894 {source="MONDO:equivalentTo"}
xref: HP:0001061 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L70 {source="DOID:6543"}
xref: ICD10:L70.2 {source="DOID:6543"}
xref: ICD10:L70.9 {source="DOID:6543"}
xref: ICD9:706.0 {source="DOID:6543"}
xref: MTH:217 {source="DOID:6543"}
xref: NCIT:C27195 {source="DOID:6543", source="EFO:0003894", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:604324 {source="DOID:6543", source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="NCIT:C27195"} ! dermatitis
is_a: MONDO:0006501 {source="EFO:0003894"} ! inflammatory skin disease
is_a: MONDO:0006607 {source="DOID:6543"} ! sebaceous gland disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/mesh/D000152
property_value: closeMatch http://identifiers.org/snomedct/11381005
property_value: closeMatch http://identifiers.org/snomedct/201210008
property_value: closeMatch http://identifiers.org/snomedct/201211007
property_value: closeMatch http://identifiers.org/snomedct/201212000
property_value: closeMatch http://identifiers.org/snomedct/201229002
property_value: closeMatch http://identifiers.org/snomedct/201408008
property_value: closeMatch http://identifiers.org/snomedct/23894009
property_value: closeMatch http://identifiers.org/snomedct/267815009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152249
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0702166
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858506
property_value: exactMatch DOID:6543
property_value: exactMatch http://identifiers.org/omim/604324
property_value: exactMatch NCIT:C27195

[Term]
id: MONDO:0011439
name: spinocerebellar ataxia type 12
def: "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." [Orphanet:98762]
subset: ordo_disease {source="Orphanet:98762"}
synonym: "SCA12" EXACT [MONDO:Lexical, OMIM:604326, Orphanet:98762]
synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326]
synonym: "spinocerebellar ataxia 12; SCA12" RELATED [OMIM:604326]
synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326]
xref: DOID:0050962 {source="MONDO:equivalentTo"}
xref: GARD:0010476 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98762", source="ORDO:98762/attributed", source="ORDO:98762/ntbt"}
xref: MESH:C565790 {source="MONDO:equivalentTo"}
xref: NCIT:C154316 {source="MONDO:equivalentTo"}
xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="ORDO:98762/e"}
xref: Orphanet:98762 {source="OMIM:604326", source="MONDO:equivalentTo"}
xref: SCTID:719208005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1858501 {source="Orphanet:98762", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:604326", source="MONDO:equivalentTo"}
xref: UMLS:C4304885 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98762"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050962
property_value: exactMatch http://identifiers.org/mesh/C565790
property_value: exactMatch http://identifiers.org/omim/604326
property_value: exactMatch http://identifiers.org/snomedct/719208005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304885
property_value: exactMatch NCIT:C154316
property_value: exactMatch Orphanet:98762

[Term]
id: MONDO:0011440
name: hypertension, essential, susceptibility to, 2
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 2" EXACT [OMIM:604329]
synonym: "hypertension, essential, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:604329]
synonym: "Hyt2" RELATED [OMIM:604329]
xref: OMIM:604329 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0011440", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858497
property_value: exactMatch http://identifiers.org/omim/604329

[Term]
id: MONDO:0011441
name: complex regional pain syndrome type 1
def: "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." [Orphanet:99995]
subset: ordo_clinical_subtype {source="Orphanet:99995"}
synonym: "Algodystrophy" EXACT [Orphanet:99995]
synonym: "Complex regional pain syndrome I" EXACT [NCIT:C85042]
synonym: "complex regional pain syndrome type 1" EXACT [Orphanet:99995]
synonym: "CRPS I" EXACT [NCIT:C85042]
synonym: "CRPS1" EXACT [MONDO:cjm]
synonym: "reflex neurovascular dystrophy" EXACT [NCIT:C85042]
synonym: "reflex sympathetic dystrophy" EXACT [OMIM:604335, Orphanet:99995]
synonym: "reflex sympathetic dystrophy syndrome" EXACT [NCIT:C85042]
synonym: "RND" EXACT [NCIT:C85042]
synonym: "RSDS" EXACT [NCIT:C85042]
xref: DOID:1811 {source="EFO:1001147", source="MONDO:equivalentTo"}
xref: EFO:1001147 {source="MONDO:equivalentTo"}
xref: ICD10:G90.5 {source="DOID:1811"}
xref: ICD10:M89.0 {source="Orphanet:99995", source="DOID:1811", source="ORDO:99995/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:337.2 {source="EFO:1001147", source="DOID:1811"}
xref: ICD9:337.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:1811"}
xref: ICD9:337.21 {source="DOID:1811"}
xref: ICD9:337.29 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:733.7 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10038249 {source="EFO:1001147"}
xref: MedDRA:10064334 {source="Orphanet:99995", source="ORDO:99995/e"}
xref: MESH:D012019 {source="EFO:1001147", source="MONDO:equivalentTo", source="DOID:1811", source="MONDO:ontobio"}
xref: NCIT:C85042 {source="MONDO:equivalentTo", source="DOID:1811"}
xref: OMIM:604335 {source="Orphanet:99995", source="MONDO:equivalentTo", source="DOID:1811", source="ORDO:99995/e"}
xref: Orphanet:99995 {source="OMIM:604335", source="MONDO:equivalentTo"}
xref: SCTID:50642008 {source="MONDO:kboom-pr-0.74/0.45/0.17", source="MONDO:equivalentTo", source="DOID:1811"}
xref: UMLS:C0034931 {source="Orphanet:99995", source="OMIM:604335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85042", source="DOID:1811"}
is_a: MONDO:0002254 {source="MONDOLEX:0011441", source="NCIT:C85042"} ! syndromic disease
is_a: MONDO:0019369 {source="DOID:1811", source="MESH:D012019", source="Orphanet:99995", source="linkedlifedata"} ! complex regional pain syndrome
property_value: closeMatch http://identifiers.org/meddra/10038249
property_value: closeMatch http://identifiers.org/snomedct/128079007
property_value: closeMatch http://identifiers.org/snomedct/156849009
property_value: closeMatch http://identifiers.org/snomedct/15743005
property_value: closeMatch http://identifiers.org/snomedct/192921009
property_value: closeMatch http://identifiers.org/snomedct/203490000
property_value: closeMatch http://identifiers.org/snomedct/203492008
property_value: closeMatch http://identifiers.org/snomedct/2103002
property_value: closeMatch http://identifiers.org/snomedct/393605009
property_value: closeMatch http://identifiers.org/snomedct/403604006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527353
property_value: exactMatch DOID:1811
property_value: exactMatch http://identifiers.org/meddra/10064334
property_value: exactMatch http://identifiers.org/mesh/D012019
property_value: exactMatch http://identifiers.org/omim/604335
property_value: exactMatch http://identifiers.org/snomedct/50642008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034931
property_value: exactMatch NCIT:C85042
property_value: exactMatch Orphanet:99995

[Term]
id: MONDO:0011442
name: advanced sleep phase syndrome 1
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "advanced sleep phase syndrome caused by mutation in PER2" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 1" EXACT [DOID:0110011, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:604348]
synonym: "advanced sleep phase syndrome, familial, 1; FASPS1" RELATED [OMIM:604348]
synonym: "advanced sleep phase syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:604348]
synonym: "familial advanced sleep phase syndrome 1" EXACT [DOID:0110011]
synonym: "FASPS1" EXACT [DOID:0110011, MONDO:Lexical, OMIM:604348]
synonym: "PER2 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110011 {source="MONDO:equivalentTo"}
xref: OMIM:604348 {source="MONDO:equivalentTo", source="DOID:0110011"}
xref: UMLS:C3807327 {source="NCBI:mim2gene_medline", source="OMIM:604348", source="MONDO:equivalentTo"}
is_a: MONDO:0015609 {source="DC-OMIM:604348", source="DOID:0110011", source="MONDO:Redundant", source="OMIM:604348"} ! advanced sleep phase syndrome
property_value: exactMatch DOID:0110011
property_value: exactMatch http://identifiers.org/omim/604348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3807327

[Term]
id: MONDO:0011443
name: febrile seizures, familial, 4
def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADGRV1 febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "convulsions, familial febrile, 4" RELATED [OMIM:604352]
synonym: "FEB4" RELATED [MONDO:Lexical, OMIM:604352]
synonym: "febrile seizures, familial caused by mutation in ADGRV1" EXACT [MONDO:design_pattern]
synonym: "febrile seizures, familial, 4" EXACT [MONDO:Lexical, OMIM:604352]
synonym: "febrile seizures, familial, 4; FEB4" RELATED [OMIM:604352]
synonym: "febrile seizures, familial, type 4" EXACT [MONDORULE:1, OMIM:604352]
xref: MESH:C565788 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604352 {source="MONDO:equivalentTo"}
xref: UMLS:C1858493 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604352"}
is_a: MONDO:0000032 {source="DC-OMIM:604352", source="MONDO:Redundant", source="OMIM:604352"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C565788
property_value: exactMatch http://identifiers.org/omim/604352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858493

[Term]
id: MONDO:0011444
name: Duane retraction syndrome 2
def: "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "CHN1 Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Duane retraction syndrome 2" EXACT [GARD:0009966, MONDO:Lexical, OMIM:604356]
synonym: "Duane retraction syndrome 2; DURS2" RELATED [OMIM:604356]
synonym: "Duane retraction syndrome caused by mutation in CHN1" EXACT [MONDO:design_pattern]
synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1, OMIM:604356]
synonym: "Duane syndrome type 2" RELATED [GARD:0009966]
synonym: "DURS2" RELATED [GARD:0009966, MONDO:Lexical, OMIM:604356]
xref: GARD:0009966 {source="MONDO:equivalentTo"}
xref: OMIM:604356 {source="GARD:0009966", source="MONDO:equivalentTo"}
xref: SCTID:128083007 {source="MONDO:equivalentTo"}
is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:604356", source="ORDO:233/btnt", source="linkedlifedata"} ! Duane retraction syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751083
property_value: exactMatch http://identifiers.org/omim/604356
property_value: exactMatch http://identifiers.org/snomedct/128083007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2 xsd:anyURI {source="GARD:0009966"}

[Term]
id: MONDO:0011445
name: hereditary spastic paraplegia 11
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:2822"}
synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [DOID:0110764]
synonym: "hereditary spastic paraplegia caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia mental impairment and thin corpus callosum" RELATED [GARD:0004919]
synonym: "hereditary spastic paraplegia type 11" EXACT [DOID:0110764, MONDORULE:2]
synonym: "HSP-TCC" EXACT [DOID:0110764, OMIM:604360]
synonym: "Nakamura Osame syndrome" RELATED [GARD:0004919]
synonym: "Nakamura-Osame syndrome" EXACT [DOID:0110764, Orphanet:2822]
synonym: "spastic paraplegia - intellectual deficit - thin corpus callosum" RELATED [GARD:0004919]
synonym: "spastic paraplegia 11" RELATED [GARD:0004919]
synonym: "spastic paraplegia 11, autosomal recessive" RELATED [MONDO:Lexical, OMIM:604360]
synonym: "spastic paraplegia 11, autosomal recessive; SPG11" RELATED [OMIM:604360]
synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum" RELATED [OMIM:604360]
synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [OMIM:604360]
synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [DOID:0110764, Orphanet:2822]
synonym: "SPG11" EXACT [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822]
synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110764 {source="MONDO:equivalentTo"}
xref: GARD:0004919 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110764", source="ORDO:2822/attributed", source="ORDO:2822/ntbt", source="Orphanet:2822"}
xref: NCIT:C148317 {source="MONDO:equivalentTo"}
xref: OMIM:604360 {source="DOID:0110764", source="MONDO:equivalentTo", source="ORDO:2822/e", source="Orphanet:2822"}
xref: Orphanet:2822 {source="DOID:0110764", source="MONDO:equivalentTo", source="OMIM:604360"}
xref: SCTID:715491000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000508 {source="Orphanet:2822"} ! syndromic intellectual disability
is_a: MONDO:0015150 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! complex hereditary spastic paraplegia
is_a: MONDO:0017915 {source="Orphanet:2822"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0110764
property_value: exactMatch http://identifiers.org/mesh/C537483
property_value: exactMatch http://identifiers.org/mesh/C538335
property_value: exactMatch http://identifiers.org/omim/604360
property_value: exactMatch http://identifiers.org/snomedct/715491000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931821
property_value: exactMatch NCIT:C148317
property_value: exactMatch Orphanet:2822

[Term]
id: MONDO:0011446
name: myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
synonym: "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" EXACT [OMIM:604363]
xref: MESH:C565786 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604363 {source="MONDO:equivalentTo"}
xref: UMLS:C1858478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604363"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565786
property_value: exactMatch http://identifiers.org/omim/604363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858478

[Term]
id: MONDO:0011447
name: obsolete epilepsy, familial focal, with variable foci
is_obsolete: true
replaced_by: MONDO:0000215

[Term]
id: MONDO:0011448
name: PPARG-related familial partial lipodystrophy
subset: ordo_disease {source="Orphanet:79083"}
synonym: "familial partial lipodystrophy associated with PPARG mutations" RELATED [GARD:0012600]
synonym: "familial partial lipodystrophy type 3" EXACT [Orphanet:79083]
synonym: "FPLD3" EXACT [MONDO:Lexical, OMIM:604367, Orphanet:79083]
synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELATED [OMIM:604367]
synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM:604367]
synonym: "lipodystrophy, familial partial, type 3; FPLD3" RELATED [OMIM:604367]
synonym: "PPARG-related FPLD" EXACT [Orphanet:79083]
xref: DOID:0070204 {source="MONDO:equivalentTo"}
xref: GARD:0012600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="Orphanet:79083", source="ORDO:79083/attributed", source="ORDO:79083/ntbt"}
xref: OMIM:604367 {source="ORDO:79083/e", source="Orphanet:79083", source="MONDO:equivalentTo"}
xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"}
is_a: MONDO:0020088 {source="DC-OMIM:604367", source="MONDOLEX:0011448", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720861
property_value: exactMatch DOID:0070204
property_value: exactMatch http://identifiers.org/omim/604367
property_value: exactMatch Orphanet:79083

[Term]
id: MONDO:0011449
name: Salla disease
def: "Salla disease is the mildest form of the free sialic acid storage disorders , which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone ( hypotonia ) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." [https://rarediseases.info.nih.gov/diseases/4754/salla-disease]
subset: gard_rare {source="GARD:0004754"}
subset: ordo_clinical_subtype {source="Orphanet:309334"}
synonym: "Salla disease" EXACT [MONDO:Lexical, OMIM:604369]
synonym: "Salla disease; SD" RELATED [OMIM:604369]
synonym: "SD" RELATED [MONDO:Lexical, OMIM:604369]
synonym: "sialic acid storage disease" EXACT [NCIT:C85067]
synonym: "sialuria, Finnish type" RELATED [OMIM:604369]
xref: GARD:0004754 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="ORDO:309334/attributed", source="ORDO:309334/ntbt", source="Orphanet:309334"}
xref: MedDRA:10067531 {source="ORDO:309334/e", source="Orphanet:309334"}
xref: NCIT:C85067 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: OMIM:604369 {source="MONDO:equivalentTo", source="ORDO:309334/e", source="Orphanet:309334"}
xref: Orphanet:309334 {source="OMIM:604369", source="MONDO:equivalentTo"}
xref: SCTID:87074006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1096903 {source="OMIM:604369", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:309334"}
is_a: MONDO:0019366 {source="Orphanet:309334"} ! free sialic acid storage disease
is_a: MONDO:0044975 ! disease of transporter activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342853
property_value: exactMatch http://identifiers.org/meddra/10067531
property_value: exactMatch http://identifiers.org/omim/604369
property_value: exactMatch http://identifiers.org/snomedct/87074006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096903
property_value: exactMatch NCIT:C85067
property_value: exactMatch Orphanet:309334
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4754/salla-disease xsd:anyURI {source="GARD:0004754"}

[Term]
id: MONDO:0011450
name: breast-ovarian cancer, familial, susceptibility to, 1
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370]
synonym: "breast-ovarian cancer, familial, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:604370]
synonym: "breast-ovarian cancer, familial, susceptibility to, 1; BROVCA1" RELATED [OMIM:604370]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:604370]
synonym: "BROVCA1" RELATED [MONDO:Lexical, OMIM:604370]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370]
synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370]
xref: OMIM:604370 {source="MONDO:equivalentTo"}
is_a: MONDO:0003582 {source="DC-OMIM:604370", source="MONDO:Redundant", source="OMIM:604370", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676676
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676677
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676678
property_value: exactMatch http://identifiers.org/omim/604370

[Term]
id: MONDO:0011451
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" EXACT [MONDO:Lexical, OMIM:604377]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; CEMCOX1" RELATED [OMIM:604377]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1, OMIM:604377]
synonym: "CEMCOX1" RELATED [MONDO:Lexical, OMIM:604377]
synonym: "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" RELATED [OMIM:604377]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" EXACT [MONDO:design_pattern]
synonym: "SCO2 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:604377 {source="MONDO:equivalentTo"}
is_a: MONDO:0015487 {source="DC-OMIM:604377", source="MONDO:Redundant", source="MONDOLEX:0011451"} ! fatal infantile encephalocardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858424
property_value: exactMatch http://identifiers.org/omim/604377

[Term]
id: MONDO:0011452
name: hypotrichosis 7
def: "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "alopecia universalis congenita, Mari type" RELATED [GARD:0008178]
synonym: "hypotrichosis 7" EXACT [MONDO:Lexical, OMIM:604379]
synonym: "hypotrichosis 7; HYPT7" RELATED [OMIM:604379]
synonym: "hypotrichosis caused by mutation in LIPH" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 7" EXACT [DOID:0110704, MONDORULE:1, OMIM:604379]
synonym: "hypotrichosis, autosomal recessive" RELATED [OMIM:604379]
synonym: "hypotrichosis, localized, autosomal recessive 2" EXACT [DOID:0110704, OMIM:604379]
synonym: "hypotrichosis, total, Mari type" RELATED [OMIM:604379]
synonym: "HYPT7" EXACT [DOID:0110704, MONDO:Lexical, OMIM:604379]
synonym: "Lah2" EXACT [DOID:0110704]
synonym: "LIPH hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Mari type alopecia universalis congenita" RELATED [GARD:0008178]
synonym: "total hypotrichosis, Mari type" RELATED [GARD:0008178]
synonym: "total Mari type hypotrichosis," EXACT [DOID:0110704]
synonym: "Wh/Ht" RELATED [OMIM:604379]
synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [OMIM:604379]
xref: DOID:0110704 {source="MONDO:equivalentTo"}
xref: EFO:0009163 {source="MONDO:equivalentTo"}
xref: GARD:0008178 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536973 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604379 {source="MONDO:equivalentTo", source="DOID:0110704"}
is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
is_a: MONDO:0021034 ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836672
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3148823
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3148824
property_value: exactMatch DOID:0110704
property_value: exactMatch http://identifiers.org/mesh/C536973
property_value: exactMatch http://identifiers.org/omim/604379

[Term]
id: MONDO:0011453
name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
synonym: "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" EXACT [OMIM:604380]
xref: MESH:C565783 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604380 {source="MONDO:equivalentTo"}
xref: UMLS:C1858422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604380"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565783
property_value: exactMatch http://identifiers.org/omim/604380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858422

[Term]
id: MONDO:0011454
name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
def: "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." [Orphanet:228190]
subset: ordo_malformation_syndrome {source="Orphanet:228190"}
synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190]
synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381]
xref: ICD10:Q87.2 {source="Orphanet:228190", source="ORDO:228190/attributed", source="ORDO:228190/ntbt"}
xref: MESH:C565782 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604381 {source="ORDO:228190/e", source="Orphanet:228190", source="MONDO:equivalentTo"}
xref: Orphanet:228190 {source="MONDO:equivalentTo", source="OMIM:604381"}
xref: UMLS:C1858420 {source="Orphanet:228190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604381", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015506 {source="Orphanet:228190"} ! rare syndrome with cardiac malformations
is_a: MONDO:0016432 {source="Orphanet:228190"} ! heart-hand syndrome
property_value: exactMatch http://identifiers.org/mesh/C565782
property_value: exactMatch http://identifiers.org/omim/604381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858420
property_value: exactMatch Orphanet:228190

[Term]
id: MONDO:0011455
name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia
synonym: "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" EXACT [OMIM:604382]
xref: MESH:C565781 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604382 {source="MONDO:equivalentTo"}
xref: UMLS:C1858419 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604382"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565781
property_value: exactMatch http://identifiers.org/omim/604382
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858419

[Term]
id: MONDO:0011456
name: nephronophthisis 3
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in NPHP3" EXACT []
synonym: "nephronophthisis 3" EXACT [MONDO:Lexical, OMIM:604387]
synonym: "nephronophthisis 3; NPHP3" RELATED [OMIM:604387]
synonym: "nephronophthisis type 3" EXACT [DOID:0111114, MONDORULE:1, OMIM:604387]
synonym: "NPH3" EXACT [DOID:0111114]
synonym: "Nph3" RELATED [OMIM:604387]
synonym: "NPHP3" EXACT [DOID:0111114, MONDO:Lexical, OMIM:604387]
synonym: "NPHP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111114 {source="MONDO:equivalentTo"}
xref: MESH:C565780 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604387 {source="MONDO:equivalentTo", source="DOID:0111114"}
xref: UMLS:C1858392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604387"}
is_a: MONDO:0019005 {source="DC-OMIM:604387", source="DOID:0111114", source="MONDO:Redundant", source="OMIM:604387"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111114
property_value: exactMatch http://identifiers.org/mesh/C565780
property_value: exactMatch http://identifiers.org/omim/604387
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858392

[Term]
id: MONDO:0011457
name: ataxia - telangiectasia-like disorder
def: "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." [NCIT:C132224]
subset: ordo_disease {source="Orphanet:251347"}
subset: prototype_pattern
synonym: "ataxia - telangiectasia-like disorder" EXACT [Orphanet:251347]
synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical, OMIM:604391]
synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:604391]
synonym: "ATLD" EXACT [Orphanet:251347]
synonym: "ATLD1" RELATED [MONDO:Lexical, OMIM:604391]
xref: DC:0000668 {source="MONDO:equivalentTo"}
xref: ICD10:G11.3 {source="ORDO:251347/attributed", source="ORDO:251347/ntbt", source="Orphanet:251347"}
xref: ICD9:334.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565779 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132224 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:604391 {source="MONDO:equivalentTo", source="DC:0000668"}
xref: Orphanet:251347 {source="MONDO:equivalentTo", source="OMIM:604391"}
xref: SCTID:700058006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN239583 {source="MONDO:equivalentTo"}
is_a: MONDO:0015945 {source="Orphanet:251347"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016756 {source="Orphanet:251347"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019293 {source="Orphanet:251347"} ! skin vascular disease
is_a: MONDO:0020045 {source="Orphanet:251347"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/mesh/C565779
property_value: exactMatch http://identifiers.org/snomedct/700058006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239583
property_value: exactMatch NCIT:C132224
property_value: exactMatch Orphanet:251347

[Term]
id: MONDO:0011458
name: Leber congenital amaurosis 4
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009662"}
synonym: "AIPL1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amaurosis congenita of Leber, type 4" RELATED [GARD:0009662]
synonym: "cone-rod dystrophy, Aipl1-related" RELATED [OMIM:604393]
synonym: "LCA4" EXACT [DOID:0110332, MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis 4" EXACT [MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis 4; LCA4" RELATED [OMIM:604393]
synonym: "Leber congenital amaurosis caused by mutation in AIPL1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 4" EXACT [DOID:0110332, MONDORULE:1, OMIM:604393]
synonym: "retinitis pigmentosa, juvenile, Aipl1-related" RELATED [OMIM:604393]
xref: DOID:0110332 {source="MONDO:equivalentTo"}
xref: GARD:0009662 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110332"}
xref: MESH:C565778 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604393 {source="MONDO:equivalentTo", source="DOID:0110332"}
xref: UMLS:C1858386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604393"}
is_a: MONDO:0015993 ! cone-rod dystrophy
is_a: MONDO:0018998 {source="DC-OMIM:604393", source="DOID:0110332", source="MESH:C565778", source="MONDO:Redundant", source="OMIM:604393"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751763
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751764
property_value: exactMatch DOID:0110332
property_value: exactMatch http://identifiers.org/mesh/C565778
property_value: exactMatch http://identifiers.org/omim/604393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858386
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 xsd:anyURI {source="GARD:0009662"}

[Term]
id: MONDO:0011459
name: arrhythmogenic right ventricular dysplasia 5
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [DOID:0110074, OMIM:604400]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [DOID:0110074, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical, OMIM:604400]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 5; ARVD5" RELATED [OMIM:604400]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [MONDORULE:1, OMIM:604400]
synonym: "ARVC5" EXACT [DOID:0110074]
synonym: "ARVD5" EXACT [DOID:0110074, MONDO:Lexical, OMIM:604400]
synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [DOID:0110074]
synonym: "TMEM43 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110074 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110074"}
xref: MESH:C565776 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604400 {source="MONDO:equivalentTo", source="DOID:0110074"}
xref: UMLS:C1858379 {source="OMIM:604400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110074
property_value: exactMatch http://identifiers.org/mesh/C565776
property_value: exactMatch http://identifiers.org/omim/604400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858379

[Term]
id: MONDO:0011460
name: arrhythmogenic right ventricular dysplasia 6
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." [DOID:0110075, PMID:10631146]
synonym: "arrhythmogenic right ventricular cardiomyopathy 6" EXACT [DOID:0110075, OMIM:604401]
synonym: "arrhythmogenic right ventricular dysplasia type 6" EXACT [DOID:0110075, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 6" RELATED [MONDO:Lexical, OMIM:604401]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 6; ARVD6" RELATED [OMIM:604401]
synonym: "ARVC6" EXACT [DOID:0110075]
synonym: "ARVD6" EXACT [DOID:0110075, MONDO:Lexical, OMIM:604401]
synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [DOID:0110075]
xref: DOID:0110075 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110075"}
xref: MESH:C565775 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604401 {source="MONDO:equivalentTo", source="DOID:0110075"}
xref: UMLS:C1858378 {source="OMIM:604401", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110075
property_value: exactMatch http://identifiers.org/mesh/C565775
property_value: exactMatch http://identifiers.org/omim/604401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858378

[Term]
id: MONDO:0011461
name: generalized epilepsy with febrile seizures plus, type 2
def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "febrile seizures, familial caused by mutation in SCN1A" EXACT [MONDO:design_pattern]
synonym: "febrile seizures, familial, 3A" RELATED [OMIM:604403]
synonym: "Gefs+, type 2" RELATED [OMIM:604403]
synonym: "GEFSP2" RELATED [MONDO:Lexical, OMIM:604403]
synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [MONDO:Lexical, OMIM:604403]
synonym: "generalized epilepsy with febrile seizures plus, type 2; GEFSP2" RELATED [OMIM:604403]
synonym: "SCN1A febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565810 {source="MONDO:equivalentTo"}
xref: OMIM:604403 {source="MONDO:equivalentTo"}
xref: UMLS:C1858673 {source="NCBI:mim2gene_medline", source="OMIM:604403", source="MONDO:equivalentTo"}
is_a: MONDO:0000032 {source="DC-OMIM:604403", source="MONDO:Redundant", source="OMIM:604403"} ! febrile seizures, familial
is_a: MONDO:0018214 {source="DC-OMIM:604403", source="OMIM:604403"} ! generalized epilepsy with febrile seizures plus
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751756
property_value: exactMatch http://identifiers.org/mesh/C565810
property_value: exactMatch http://identifiers.org/omim/604403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858673

[Term]
id: MONDO:0011462
name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome
def: "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." [Orphanet:69126]
subset: ordo_disease {source="Orphanet:69126"}
synonym: "familial recurrent arthritis" EXACT [OMIM:604416, Orphanet:69126]
synonym: "fra" EXACT [Orphanet:69126]
synonym: "papa" EXACT [NCIT:C119055]
synonym: "papa syndrome" EXACT [OMIM:604416, Orphanet:69126]
synonym: "Papas" RELATED [GARD:0009176]
synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" RELATED [GARD:0009176]
synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELATED [GARD:0009176]
synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416]
xref: GARD:0009176 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C536253 {source="MONDO:equivalentTo", source="ORDO:69126/e", source="MONDO:ontobio", source="Orphanet:69126"}
xref: NCIT:C119055 {source="MONDO:equivalentTo"}
xref: OMIM:604416 {source="MONDO:equivalentTo", source="ORDO:69126/e", source="Orphanet:69126"}
xref: Orphanet:69126 {source="MONDO:equivalentTo", source="OMIM:604416"}
xref: SCTID:724015007 {source="MONDO:equivalentTo"}
xref: UMLS:C1858361 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604416", source="Orphanet:69126"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017369 {source="Orphanet:69126"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:69126"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:69126"} ! pyogenic autoinflammatory syndrome
is_a: MONDO:0019299 {source="Orphanet:69126"} ! unclassified genetic skin disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C536253
property_value: exactMatch http://identifiers.org/omim/604416
property_value: exactMatch http://identifiers.org/snomedct/724015007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858361
property_value: exactMatch NCIT:C119055
property_value: exactMatch Orphanet:69126

[Term]
id: MONDO:0011463
name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
def: "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." [Orphanet:538096]
subset: ordo_disease
synonym: "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" EXACT [OMIM:604431]
xref: MESH:C565773 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604431 {source="Orphanet:538096", source="MONDO:equivalentTo"}
xref: Orphanet:538096 {source="MONDO:equivalentTo"}
xref: UMLS:C1858353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604431"}
is_a: MONDO:0019601 {source="Orphanet:538096"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/mesh/C565773
property_value: exactMatch http://identifiers.org/omim/604431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858353
property_value: exactMatch Orphanet:538096

[Term]
id: MONDO:0011464
name: spinocerebellar ataxia type 11
def: "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." [Orphanet:98767]
subset: ordo_disease {source="Orphanet:98767"}
synonym: "SCA11" EXACT [MONDO:Lexical, OMIM:604432, Orphanet:98767]
synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432]
synonym: "spinocerebellar ataxia 11; SCA11" RELATED [OMIM:604432]
synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432]
xref: DOID:0050961 {source="MONDO:equivalentTo"}
xref: GARD:0010475 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:98767", source="ORDO:98767/attributed", source="ORDO:98767/ntbt"}
xref: MESH:C565772 {source="MONDO:equivalentTo"}
xref: OMIM:604432 {source="ORDO:98767/e", source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo"}
xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"}
xref: SCTID:719207000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1858351 {source="OMIM:604432", source="MEDGEN:kboom-pr98-c99", source="Orphanet:98767", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="Orphanet:98767"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050961
property_value: exactMatch http://identifiers.org/mesh/C565772
property_value: exactMatch http://identifiers.org/omim/604432
property_value: exactMatch http://identifiers.org/snomedct/719207000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304886
property_value: exactMatch Orphanet:98767

[Term]
id: MONDO:0011465
name: infundibulocystic basal cell carcinoma
subset: gard_rare {source="GARD:0009788"}
synonym: "basal cell carcinoma with follicular differentiation" RELATED [OMIM:604451]
synonym: "basal cell carcinoma, infundibulocystic" RELATED [OMIM:604451]
synonym: "skin infundibulocystic basal cell carcinoma" EXACT [DOID:4279]
xref: DOID:4279 {source="MONDO:equivalentTo"}
xref: GARD:0009788 {source="MONDO:equivalentTo"}
xref: MESH:C537655 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27540 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:604451 {source="DOID:4279", source="MONDO:equivalentTo"}
xref: UMLS:C1304297 {source="NCIT:C27540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604451"}
is_a: MONDO:0005341 {source="DC-OMIM:604451", source="DOID:4279", source="MONDOLEX:0011465", source="NCIT:C27540"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch DOID:4279
property_value: exactMatch http://identifiers.org/mesh/C537655
property_value: exactMatch http://identifiers.org/omim/604451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304297
property_value: exactMatch NCIT:C27540
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic xsd:anyURI {source="GARD:0009788"}

[Term]
id: MONDO:0011466
name: distal myopathy, Welander type
def: "Welander distal myopathy (WDM) is a distal myopathy (see this term), characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." [Orphanet:603]
subset: ordo_disease {source="Orphanet:603"}
synonym: "distal myopathy, Swedish type" RELATED [GARD:0005552]
synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [OMIM:604454]
synonym: "myopathy, distal, Swedish" RELATED [OMIM:604454]
synonym: "WDM" EXACT [MONDO:Lexical, OMIM:604454, Orphanet:603]
synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454]
synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552]
synonym: "Welander distal myopathy; WDM" RELATED [OMIM:604454]
xref: GARD:0005552 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:603", source="ORDO:603/attributed", source="ORDO:603/ntbt"}
xref: OMIM:604454 {source="ORDO:603/e", source="Orphanet:603", source="MONDO:equivalentTo"}
xref: Orphanet:603 {source="OMIM:604454", source="MONDO:equivalentTo"}
xref: UMLS:CN205368 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:603"} ! autosomal dominant distal myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221054
property_value: exactMatch http://identifiers.org/mesh/C536690
property_value: exactMatch http://identifiers.org/omim/604454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205368
property_value: exactMatch Orphanet:603

[Term]
id: MONDO:0011467
name: obsolete human herpesvirus type 6, integrated
synonym: "human herpesvirus type 6, integrated" EXACT [OMIM:604474]
xref: MESH:C565771 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: OMIM:604474 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1858340 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604474"}
property_value: exactMatch http://identifiers.org/mesh/C565771
property_value: exactMatch http://identifiers.org/omim/604474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858340
is_obsolete: true

[Term]
id: MONDO:0011468
name: hereditary motor and sensory neuropathy, Okinawa type
def: "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." [Orphanet:90117]
subset: ordo_disease {source="Orphanet:90117"}
synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [OMIM:604484, Orphanet:90117]
synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [OMIM:604484]
synonym: "HMSNO" RELATED [MONDO:Lexical, OMIM:604484]
synonym: "HMSNP" EXACT [Orphanet:90117]
synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484]
synonym: "neuropathy, hereditary motor and sensory, Okinawa type; HMSNO" RELATED [OMIM:604484]
xref: GARD:0010131 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:90117/inclusion", source="ORDO:90117/ntbt", source="Orphanet:90117"}
xref: MESH:C535717 {source="MONDO:equivalentTo", source="ORDO:90117/e", source="Orphanet:90117"}
xref: OMIM:604484 {source="MONDO:equivalentTo", source="ORDO:90117/e", source="Orphanet:90117"}
xref: Orphanet:90117 {source="MONDO:equivalentTo", source="OMIM:604484"}
is_a: MONDO:0002316 {source="DC-OMIM:604484", source="MONDOLEX:0011468"} ! motor peripheral neuropathy
is_a: MONDO:0015360 {source="Orphanet:90117"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/mesh/C535717
property_value: exactMatch http://identifiers.org/omim/604484
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858338
property_value: exactMatch Orphanet:90117

[Term]
id: MONDO:0011469
name: congenital amegakaryocytic thrombocytopenia
def: "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." [Orphanet:3319]
subset: gard_rare {source="GARD:0000640"}
subset: ordo_disease {source="Orphanet:3319"}
synonym: "amegakaryocytic thrombocytopenia, congenital" RELATED [MONDO:Lexical, OMIM:604498]
synonym: "amegakaryocytic thrombocytopenia, congenital; CAMT" RELATED [OMIM:604498]
synonym: "CAMT" EXACT [DOID:0090118, MONDO:Lexical, OMIM:604498, Orphanet:3319]
synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:0090118, Orphanet:3319]
synonym: "thrombocytopenia congenital amegakaryocytic" RELATED [GARD:0000640]
xref: DOID:0090118 {source="MONDO:equivalentTo"}
xref: GARD:0000640 {source="MONDO:equivalentTo"}
xref: GARD:640 {source="DOID:0090118"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="ORDO:3319/attributed", source="ORDO:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"}
xref: MESH:C535982 {source="MONDO:equivalentTo", source="ORDO:3319/e", source="MONDO:ontobio", source="Orphanet:3319", source="DOID:0090118"}
xref: NCIT:C115207 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:604498 {source="MONDO:equivalentTo", source="ORDO:3319/e", source="Orphanet:3319", source="DOID:0090118"}
xref: Orphanet:3319 {source="OMIM:604498", source="MONDO:equivalentTo", source="DOID:0090118"}
xref: SCTID:716336002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1327915 {source="OMIM:604498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3319/e", source="Orphanet:3319", source="DOID:0090118", source="NCIT:C115207"}
is_a: MONDO:0001713 {source="Orphanet:3319"} ! inherited aplastic anemia
is_a: MONDO:0018796 {source="Orphanet:3319"} ! isolated constitutional thrombocytopenia
property_value: exactMatch DOID:0090118
property_value: exactMatch http://identifiers.org/mesh/C535982
property_value: exactMatch http://identifiers.org/omim/604498
property_value: exactMatch http://identifiers.org/snomedct/716336002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1327915
property_value: exactMatch NCIT:C115207
property_value: exactMatch Orphanet:3319
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia xsd:anyURI {source="GARD:0000640"}

[Term]
id: MONDO:0011470
name: hyperlipidemia, combined, 2
synonym: "hyperlipidemia, combined, 2" EXACT [OMIM:604499]
synonym: "hyperlipidemia, combined, type 2" EXACT [MONDORULE:1, OMIM:604499]
synonym: "hyperlipidemia, familial combined, 2" RELATED [OMIM:604499]
synonym: "hyplip2" RELATED [OMIM:604499]
xref: MESH:C565766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604499 {source="MONDO:equivalentTo"}
xref: UMLS:C1858308 {source="OMIM:604499", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001807 {source="DC-OMIM:604499", source="MESH:C565766"} ! familial combined hyperlipidemia
property_value: exactMatch http://identifiers.org/mesh/C565766
property_value: exactMatch http://identifiers.org/omim/604499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858308

[Term]
id: MONDO:0011471
name: inflammatory bowel disease 3
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3." [DOID:0110891, PMID:10577918]
synonym: "IBD3" EXACT [DOID:0110891, MONDO:Lexical, OMIM:604519]
synonym: "inflammatory bowel disease 3" EXACT [MONDO:Lexical, OMIM:604519]
synonym: "inflammatory bowel disease 3; IBD3" RELATED [OMIM:604519]
synonym: "inflammatory bowel disease type 3" EXACT [DOID:0110891, MONDORULE:1]
xref: DOID:0110891 {source="MONDO:equivalentTo"}
xref: MESH:C565764 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604519 {source="MONDO:equivalentTo", source="DOID:0110891"}
xref: UMLS:C1858303 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604519"}
is_a: MONDO:0005265 {source="DC-OMIM:604519", source="DOID:0110891", source="MESH:C565764", source="OMIM:604519"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110891
property_value: exactMatch http://identifiers.org/mesh/C565764
property_value: exactMatch http://identifiers.org/omim/604519
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858303

[Term]
id: MONDO:0011472
name: epidermolysis bullosa simplex due to plakophilin deficiency
def: "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." [Orphanet:158668]
subset: ordo_disease {source="Orphanet:158668"}
synonym: "ectodermal dysplasia - skin fragility syndrome" RELATED [GARD:0009705]
synonym: "ectodermal dysplasia skin fragility syndrome" RELATED [GARD:0009705]
synonym: "ectodermal dysplasia-skin fragility syndrome" EXACT [Orphanet:158668]
synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536]
synonym: "McGrath syndrome" EXACT [Orphanet:158668]
synonym: "Mcgrath syndrome" RELATED [OMIM:604536]
xref: GARD:0009705 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:158668/attributed", source="ORDO:158668/ntbt", source="Orphanet:158668"}
xref: MESH:C536183 {source="ORDO:158668/e", source="MONDO:equivalentTo", source="Orphanet:158668", source="MONDO:ontobio"}
xref: OMIM:604536 {source="ORDO:158668/e", source="MONDO:equivalentTo", source="Orphanet:158668"}
xref: Orphanet:158668 {source="OMIM:604536", source="MONDO:equivalentTo"}
xref: SCTID:716699004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1858302 {source="OMIM:604536", source="ORDO:158668/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:158668"}
is_a: MONDO:0015550 {source="Orphanet:158668"} ! suprabasal epidermolysis bullosa simplex
is_a: MONDO:0016997 {source="Orphanet:158668"} ! hereditary epidermolysis bullosa associated with ocular features
is_a: MONDO:0019287 {source="MESH:C536183", source="MONDOLEX:0011472", source="Orphanet:158668"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536183
property_value: exactMatch http://identifiers.org/omim/604536
property_value: exactMatch http://identifiers.org/snomedct/716699004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858302
property_value: exactMatch Orphanet:158668

[Term]
id: MONDO:0011473
name: Leber congenital amaurosis 5
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009983"}
synonym: "amaurosis congenita of Leber, type 5" RELATED [GARD:0009983]
synonym: "LCA5" EXACT [DOID:0110215, MONDO:Lexical, OMIM:604537]
synonym: "LCA5 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Leber congenital amaurosis 5" EXACT [MONDO:Lexical, OMIM:604537]
synonym: "Leber congenital amaurosis 5; LCA5" RELATED [OMIM:604537]
synonym: "Leber congenital amaurosis caused by mutation in LCA5" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 5" EXACT [DOID:0110215, MONDORULE:1, OMIM:604537]
xref: DOID:0110215 {source="MONDO:equivalentTo"}
xref: GARD:0009983 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110215", source="MONDO:relatedTo"}
xref: MESH:C536602 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604537 {source="DOID:0110215", source="MONDO:equivalentTo"}
xref: UMLS:C1858301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604537"}
is_a: MONDO:0018998 {source="DC-OMIM:604537", source="DOID:0110215", source="MESH:C536602", source="MONDO:Redundant", source="OMIM:604537"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110215
property_value: exactMatch http://identifiers.org/mesh/C536602
property_value: exactMatch http://identifiers.org/omim/604537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858301
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5 xsd:anyURI {source="GARD:0009983"}

[Term]
id: MONDO:0011474
name: progressive familial heart block type IB
def: "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "heart block progressive familial type 1B" RELATED [GARD:0002610]
synonym: "PFHB1B" EXACT [DOID:0111076, MONDO:Lexical, OMIM:604559]
synonym: "Pfhbib" RELATED [OMIM:604559]
synonym: "progressive familial heart block caused by mutation in TRPM4" EXACT [MONDO:design_pattern]
synonym: "progressive familial heart block type 1B" RELATED [GARD:0002610]
synonym: "progressive familial heart block, type 1B" RELATED [OMIM:604559]
synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical, OMIM:604559]
synonym: "progressive familial heart block, type IB; PFHB1B" RELATED [OMIM:604559]
synonym: "TRPM4 progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111076 {source="MONDO:equivalentTo"}
xref: GARD:0002610 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567037 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604559 {source="MONDO:equivalentTo", source="DOID:0111076"}
xref: SCTID:698250005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019490 {source="DC-OMIM:604559", source="DOID:0111076", source="MONDO:Redundant", source="OMIM:604559", source="linkedlifedata"} ! progressive familial heart block
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970298
property_value: exactMatch DOID:0111076
property_value: exactMatch http://identifiers.org/mesh/C567037
property_value: exactMatch http://identifiers.org/omim/604559
property_value: exactMatch http://identifiers.org/snomedct/698250005

[Term]
id: MONDO:0011475
name: Charcot-Marie-Tooth disease type 4B2
def: "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." [Orphanet:99956]
subset: gard_rare {source="GARD:0009200"}
subset: ordo_disease {source="Orphanet:99956"}
synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190]
synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical, OMIM:604563]
synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth disease, type 4B2; CMT4B2" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [DOID:0110190]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563]
synonym: "CMT 4B2" RELATED [GARD:0009200]
synonym: "CMT4B2" EXACT [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956]
synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110190 {source="MONDO:equivalentTo"}
xref: GARD:0009200 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="ORDO:99956/attributed", source="ORDO:99956/ntbt"}
xref: MESH:C535421 {source="ORDO:99956/e", source="MONDO:equivalentTo", source="Orphanet:99956"}
xref: OMIM:604563 {source="DOID:0110190", source="ORDO:99956/e", source="MONDO:equivalentTo", source="Orphanet:99956"}
xref: Orphanet:99956 {source="DOID:0110190", source="MONDO:equivalentTo", source="OMIM:604563"}
xref: SCTID:715800000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1858278 {source="ORDO:99956/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99956", source="OMIM:604563"}
is_a: MONDO:0018995 {source="DOID:0110190", source="MONDO:Redundant", source="Orphanet:99956", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858279
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858280
property_value: exactMatch DOID:0110190
property_value: exactMatch http://identifiers.org/mesh/C535421
property_value: exactMatch http://identifiers.org/omim/604563
property_value: exactMatch http://identifiers.org/snomedct/715800000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858278
property_value: exactMatch Orphanet:99956
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 xsd:anyURI {source="GARD:0009200"}

[Term]
id: MONDO:0011476
name: MHC class I deficiency
def: "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." [Orphanet:34592]
subset: ordo_disease {source="Orphanet:34592"}
synonym: "Bare lymphocyte syndrome type 1" EXACT [Orphanet:34592]
synonym: "bare lymphocyte syndrome type I" EXACT [DOID:0060009]
synonym: "Bare lymphocyte syndrome, type 1" RELATED [OMIM:604571]
synonym: "BARE lymphocyte syndrome, type I" RELATED [OMIM:604571]
synonym: "BLS type 1" RELATED [GARD:0008427]
synonym: "Bls, type 1" RELATED [OMIM:604571]
synonym: "BLS, type I" EXACT [DOID:0060009]
synonym: "BLSI" EXACT [DOID:0060009]
synonym: "HLA Class 1 deficiency" RELATED [OMIM:604571]
synonym: "HLA CLASS I deficiency" EXACT [DOID:0060009]
synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphanet:34592]
synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592]
xref: DOID:0060009 {source="MONDO:equivalentTo"}
xref: GARD:0008427 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D81.6 {source="ORDO:34592/e", source="Orphanet:34592", source="ORDO:34592/specific"}
xref: OMIM:604571 {source="MONDO:equivalentTo", source="ORDO:34592/e", source="Orphanet:34592", source="DOID:0060009"}
xref: Orphanet:34592 {source="MONDO:equivalentTo", source="OMIM:604571"}
xref: SCTID:725136003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858266 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34592", source="OMIM:604571"}
is_a: MONDO:0018814 {source="Orphanet:34592"} ! non-severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:0060009", source="https://github.com/monarch-initiative/mondo-build/issues/108"} ! severe combined immunodeficiency (disease)
property_value: exactMatch DOID:0060009
property_value: exactMatch http://identifiers.org/omim/604571
property_value: exactMatch http://identifiers.org/snomedct/725136003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858266
property_value: exactMatch Orphanet:34592

[Term]
id: MONDO:0011477
name: tooth agenesis, selective, 3
def: "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypodontia/oligodontia 3" RELATED [OMIM:604625]
synonym: "PAX9 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG3" RELATED [MONDO:Lexical, OMIM:604625]
synonym: "tooth agenesis caused by mutation in PAX9" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 3" EXACT [MONDO:Lexical, OMIM:604625]
synonym: "tooth agenesis, selective, 3; STHAG3" RELATED [OMIM:604625]
synonym: "tooth agenesis, selective, type 3" EXACT [MONDORULE:1, OMIM:604625]
xref: MESH:C567036 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604625 {source="MONDO:equivalentTo"}
xref: UMLS:C1970291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604625"}
is_a: MONDO:0005486 {source="DC-OMIM:604625", source="MONDO:Redundant", source="OMIM:604625"} ! tooth agenesis
property_value: closeMatch Orphanet:2227
property_value: exactMatch http://identifiers.org/mesh/C567036
property_value: exactMatch http://identifiers.org/omim/604625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970291

[Term]
id: MONDO:0011478
name: growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
synonym: "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia" EXACT [OMIM:604690]
synonym: "Roca syndrome" RELATED [OMIM:604690]
synonym: "Roca-Weidemann syndrome" RELATED [OMIM:604690]
xref: MESH:C565755 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604690 {source="MONDO:equivalentTo"}
xref: UMLS:C1858182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604690"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565755
property_value: exactMatch http://identifiers.org/omim/604690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858182

[Term]
id: MONDO:0011479
name: postural orthostatic tachycardia syndrome
def: "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart ." [EFO:1000645]
subset: ordo_disease {source="Orphanet:443236"}
synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "irritable heart" EXACT [DOID:0111154]
synonym: "mitral valve prolapse syndrome" EXACT EXCLUDE [DOID:0111154]
synonym: "neurocirculatory asthenia" EXACT [DOID:0111154, OMIM:604715]
synonym: "orhtostatic intolerance" EXACT [DOID:0111154]
synonym: "orthostatic intolerance" RELATED [OMIM:604715]
synonym: "orthostatic intolerance due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "Soldiers heart" RELATED [OMIM:604715]
synonym: "soldiers heart" EXACT [DOID:0111154]
xref: DOID:0111154 {source="MONDO:equivalentTo"}
xref: EFO:1000645 {source="MONDO:equivalentTo"}
xref: ICD10:I95.1 {source="Orphanet:443236", source="ORDO:443236/attributed", source="ORDO:443236/ntbt", source="DOID:0111154"}
xref: OMIM:604715 {source="ORDO:443236/e", source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154"}
xref: Orphanet:443236 {source="MONDO:equivalentTo", source="DOID:0111154"}
xref: SCTID:8074002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.43/0.14"}
is_a: MONDO:0000992 {source="DOID:0111154"} ! heart conduction disease
is_a: MONDO:0015914 {source="Orphanet:443236"} ! primary orthostatic hypotension
is_a: MONDO:0019117 {source="Orphanet:443236", source="Orphanet:443236/inferred"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1535893
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930833
property_value: exactMatch DOID:0111154
property_value: exactMatch http://identifiers.org/omim/604715
property_value: exactMatch http://identifiers.org/snomedct/8074002
property_value: exactMatch Orphanet:443236

[Term]
id: MONDO:0011480
name: autosomal dominant nonsyndromic deafness 20
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTG1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 20" EXACT [DOID:0110550]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 20" EXACT [DOID:0110550, MONDORULE:2]
synonym: "deafness, autosomal dominant 20" RELATED [MONDO:Lexical, OMIM:604717]
synonym: "deafness, autosomal dominant 20; DFNA20" RELATED [OMIM:604717]
synonym: "deafness, autosomal dominant type 20" EXACT [MONDORULE:2, OMIM:604717]
synonym: "DFNA20" EXACT [DOID:0110550, MONDO:Lexical, OMIM:604717]
synonym: "DFNA26" EXACT [DOID:0110550]
synonym: "Dfna26" RELATED [OMIM:604717]
xref: DOID:0110550 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110550"}
xref: MESH:C565754 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604717 {source="MONDO:equivalentTo", source="DOID:0110550"}
xref: UMLS:C1858172 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604717"}
is_a: MONDO:0019587 {source="DC-OMIM:604717", source="DOID:0110550", source="MONDO:Redundant", source="OMIM:604717"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110550
property_value: exactMatch http://identifiers.org/mesh/C565754
property_value: exactMatch http://identifiers.org/omim/604717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858172

[Term]
id: MONDO:0011481
name: craniosynostosis, Boston type
def: "Craniosynostosis, Boston type is a form of syndromic craniosynostosis (see this term), characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." [Orphanet:1541]
subset: ordo_malformation_syndrome {source="Orphanet:1541"}
synonym: "craniosynostosis 2" RELATED [MONDO:Lexical, OMIM:604757]
synonym: "craniosynostosis 2; CRS2" RELATED [OMIM:604757]
synonym: "craniosynostosis Boston type" RELATED [GARD:0005538]
synonym: "craniosynostosis type 2" EXACT [MONDORULE:1, OMIM:604757]
synonym: "craniosynostosis Warman type" RELATED [GARD:0005538]
synonym: "craniosynostosis, Boston-type" RELATED [OMIM:604757]
synonym: "craniosynostosis, Warman type" EXACT [Orphanet:1541]
synonym: "CRS2" RELATED [MONDO:Lexical, OMIM:604757]
synonym: "Warman Mulliken Hayward syndrome" RELATED [GARD:0005538]
synonym: "Warman-Mulliken-Hayward syndrome" EXACT [Orphanet:1541]
xref: GARD:0005538 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.8 {source="Orphanet:1541", source="ORDO:1541/attributed", source="ORDO:1541/ntbt"}
xref: OMIM:604757 {source="Orphanet:1541", source="ORDO:1541/e", source="MONDO:equivalentTo"}
xref: Orphanet:1541 {source="MONDO:equivalentTo", source="OMIM:604757"}
xref: SCTID:720817008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.78"}
is_a: MONDO:0015338 {source="Orphanet:1541"} ! syndromic craniosynostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858160
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931287
property_value: exactMatch http://identifiers.org/omim/604757
property_value: exactMatch http://identifiers.org/snomedct/720817008
property_value: exactMatch Orphanet:1541

[Term]
id: MONDO:0011482
name: dilated cardiomyopathy 1I
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical, OMIM:604765]
synonym: "cardiomyopathy, dilated, 1I; CMD1I" RELATED [OMIM:604765]
synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4, OMIM:604765]
synonym: "CMD1I" EXACT [DOID:0110431, MONDO:Lexical, OMIM:604765]
synonym: "DES familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1I" EXACT [DOID:0110431, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in DES" EXACT [MONDO:design_pattern]
xref: DOID:0110431 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110431"}
xref: MESH:C565752 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604765 {source="MONDO:equivalentTo", source="DOID:0110431"}
xref: UMLS:C1858154 {source="OMIM:604765", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110431
property_value: exactMatch http://identifiers.org/mesh/C565752
property_value: exactMatch http://identifiers.org/omim/604765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858154

[Term]
id: MONDO:0011483
name: polycystic bone disease
subset: gard_rare {source="GARD:0008571"}
synonym: "Pcbd" RELATED [OMIM:604771]
synonym: "polycystic bone disease" EXACT [OMIM:604771]
xref: GARD:0008571 {source="MONDO:equivalentTo"}
xref: MESH:C536324 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604771 {source="MONDO:equivalentTo"}
xref: UMLS:C1858143 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604771"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536324
property_value: exactMatch http://identifiers.org/omim/604771
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858143
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease xsd:anyURI {source="GARD:0008571"}

[Term]
id: MONDO:0011484
name: catecholaminergic polymorphic ventricular tachycardia 1
def: "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." [NCIT:C123414]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [DOID:0060675, MONDORULE:1]
synonym: "CPVT1" RELATED [MONDO:Lexical, OMIM:604772]
synonym: "CVPT1" EXACT [DOID:0060675]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:604772]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; CPVT1" RELATED [OMIM:604772]
synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:604772]
xref: DOID:0060675 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060675"}
xref: NCIT:C123414 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:604772 {source="DOID:0060675", source="MONDO:equivalentTo"}
xref: UMLS:C4053736 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C123414"}
is_a: MONDO:0017990 {source="DC-OMIM:604772", source="DOID:0060675", source="OMIM:604772"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060675
property_value: exactMatch http://identifiers.org/omim/604772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4053736
property_value: exactMatch NCIT:C123414

[Term]
id: MONDO:0011485
name: autosomal recessive congenital ichthyosis 5
def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13." [DOID:0060714, PMID:10712223, PMID:16436457]
subset: gard_rare
synonym: "ARCI5" EXACT [DOID:0060714, MESH:C537265, MONDO:Lexical, OMIM:604777]
synonym: "autosomal recessive congenital ichthyosis type 5" EXACT [DOID:0060714, MONDORULE:1]
synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [DOID:0060714]
synonym: "ichthyosis congenita 3" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis congenita III" RELATED [GARD:0009734, MESH:C537265]
synonym: "ichthyosis lamellar 3" RELATED [MESH:C537265]
synonym: "ichthyosis, congenital, autosomal recessive 5" RELATED [MESH:C537265, MONDO:Lexical, OMIM:604777]
synonym: "ichthyosis, congenital, autosomal recessive 5; ARCI5" RELATED [OMIM:604777]
synonym: "ichthyosis, congenital, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:604777]
synonym: "ichthyosis, lamellar, 3" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis, lamellar, 3, formerly" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive" RELATED [MESH:C537265]
synonym: "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive" RELATED [OMIM:604777]
synonym: "lamellar ichthyosis, type 3" RELATED [GARD:0009734]
synonym: "LI3, formerly" RELATED [MESH:C537265]
synonym: "NNCI" RELATED [MESH:C537265]
synonym: "type 3 lamellar ichthyosis" RELATED [MESH:C537265]
xref: DOID:0060714 {source="MONDO:equivalentTo"}
xref: GARD:0009734 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060714"}
xref: MESH:C537265 {source="MONDO:equivalentTo"}
xref: OMIM:604777 {source="GARD:0009734", source="MONDO:equivalentTo", source="DOID:0060714"}
is_a: MONDO:0017265 {source="OMIM:604777"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="MESH:C537265", source="ORDO:313/btnt"} ! lamellar ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858133
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858142
property_value: exactMatch DOID:0060714
property_value: exactMatch http://identifiers.org/mesh/C537265
property_value: exactMatch http://identifiers.org/omim/604777
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 xsd:anyURI {source="GARD:0009734"}

[Term]
id: MONDO:0011486
name: congenital muscular dystrophy 1B
def: "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." [Orphanet:98893]
subset: ordo_disease {source="Orphanet:98893"}
synonym: "CMD1B" EXACT [DOID:0110634, Orphanet:98893]
synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4]
synonym: "MDC1B" EXACT [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893]
synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801]
synonym: "muscular dystrophy, congenital, 1B; MDC1B" RELATED [OMIM:604801]
xref: DOID:0110634 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="DOID:0110634", source="ORDO:98893/attributed", source="ORDO:98893/ntbt", source="Orphanet:98893"}
xref: MESH:C565748 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604801 {source="DOID:0110634", source="MONDO:equivalentTo", source="ORDO:98893/e", source="Orphanet:98893"}
xref: Orphanet:98893 {source="DOID:0110634", source="MONDO:equivalentTo", source="OMIM:604801"}
xref: SCTID:764944006 {source="MONDO:equivalentTo"}
xref: UMLS:C1858118 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604801", source="Orphanet:98893"}
is_a: MONDO:0019950 {source="DOID:0110634", source="MONDOLEX:0011486", source="Orphanet:98893"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0110634
property_value: exactMatch http://identifiers.org/mesh/C565748
property_value: exactMatch http://identifiers.org/omim/604801
property_value: exactMatch http://identifiers.org/snomedct/764944006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858118
property_value: exactMatch Orphanet:98893

[Term]
id: MONDO:0011487
name: Huntington disease-like 3
def: "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." [Orphanet:157946]
subset: ordo_disease {source="Orphanet:157946"}
synonym: "HDL3" EXACT [MONDO:Lexical, OMIM:604802, Orphanet:157946]
synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802]
synonym: "Huntington disease-like 3; HDL3" RELATED [OMIM:604802]
synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802]
synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946]
xref: ICD10:G10 {source="ORDO:157946/attributed", source="ORDO:157946/ntbt", source="Orphanet:157946"}
xref: MESH:C565747 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604802 {source="MONDO:equivalentTo", source="ORDO:157946/e", source="Orphanet:157946"}
xref: Orphanet:157946 {source="MONDO:equivalentTo", source="OMIM:604802"}
xref: UMLS:C1858114 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604802", source="Orphanet:157946"}
is_a: MONDO:0015548 {source="Orphanet:157946"} ! Huntington disease-like syndrome
is_a: MONDO:0017662 {source="Orphanet:157946"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C565747
property_value: exactMatch http://identifiers.org/omim/604802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858114
property_value: exactMatch Orphanet:157946

[Term]
id: MONDO:0011488
name: microcephaly 3, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2" EXACT [MONDO:design_pattern]
synonym: "CDK5RAP2 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH3" RELATED [MONDO:Lexical, OMIM:604804]
synonym: "microcephaly 3, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604804]
synonym: "microcephaly 3, primary, autosomal recessive; MCPH3" RELATED [OMIM:604804]
xref: DOID:0070286 {source="MONDO:equivalentTo"}
xref: MESH:C565746 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604804 {source="MONDO:equivalentTo"}
xref: UMLS:C1858108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604804"}
is_a: MONDO:0016660 {source="DC-OMIM:604804", source="MONDO:Redundant", source="OMIM:604804"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070286
property_value: exactMatch http://identifiers.org/mesh/C565746
property_value: exactMatch http://identifiers.org/omim/604804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858108

[Term]
id: MONDO:0011489
name: hereditary spastic paraplegia 12
def: "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." [Orphanet:100993]
subset: ordo_disease {source="Orphanet:100993"}
synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765]
synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765]
synonym: "hereditary spastic paraplegia caused by mutation in RTN2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 12" EXACT [DOID:0110765, MONDORULE:2]
synonym: "RTN2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 12" RELATED [GARD:0009586]
synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805]
synonym: "spastic paraplegia 12, autosomal dominant; SPG12" RELATED [OMIM:604805]
synonym: "SPG12" EXACT [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993]
xref: DOID:0110765 {source="MONDO:equivalentTo"}
xref: GARD:0009586 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="DOID:0110765", source="MONDO:subClassOf", source="Orphanet:100993", source="ORDO:100993/attributed", source="ORDO:100993/ntbt"}
xref: MESH:C537484 {source="ORDO:100993/e", source="Orphanet:100993", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604805 {source="DOID:0110765", source="ORDO:100993/e", source="Orphanet:100993", source="MONDO:equivalentTo"}
xref: Orphanet:100993 {source="DOID:0110765", source="MONDO:equivalentTo", source="OMIM:604805"}
xref: SCTID:763374004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858106 {source="MEDGEN:kboom-pr98-c99", source="ORDO:100993/e", source="NCBI:mim2gene_medline", source="Orphanet:100993", source="MONDO:equivalentTo", source="OMIM:604805"}
is_a: MONDO:0015088 {source="Orphanet:100993"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110765
property_value: exactMatch http://identifiers.org/mesh/C537484
property_value: exactMatch http://identifiers.org/omim/604805
property_value: exactMatch http://identifiers.org/snomedct/763374004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858106
property_value: exactMatch Orphanet:100993

[Term]
id: MONDO:0011490
name: diffuse panbronchiolitis
def: "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" [Orphanet:171700]
subset: gard_rare {source="GARD:0008526"}
subset: ordo_disease {source="Orphanet:171700"}
synonym: "DPb" RELATED [OMIM:604809]
synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809]
synonym: "PBLT" RELATED [OMIM:604809]
xref: GARD:0008526 {source="MONDO:equivalentTo"}
xref: ICD10:J44.8 {source="ORDO:171700/ntbt", source="Orphanet:171700"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062952 {source="ORDO:171700/e", source="Orphanet:171700"}
xref: MESH:C536174 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:171700/e", source="Orphanet:171700"}
xref: OMIM:604809 {source="MONDO:equivalentTo", source="ORDO:171700/e", source="Orphanet:171700"}
xref: Orphanet:171700 {source="MONDO:equivalentTo", source="OMIM:604809"}
xref: SCTID:430476004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0878555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:171700/e", source="OMIM:604809", source="Orphanet:171700"}
is_a: MONDO:0001358 ! bronchial disease
is_a: MONDO:0005002 {source="MNDO:cjm"} ! chronic obstructive pulmonary disease
property_value: exactMatch http://identifiers.org/meddra/10062952
property_value: exactMatch http://identifiers.org/mesh/C536174
property_value: exactMatch http://identifiers.org/omim/604809
property_value: exactMatch http://identifiers.org/snomedct/430476004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878555
property_value: exactMatch Orphanet:171700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis xsd:anyURI {source="GARD:0008526"}

[Term]
id: MONDO:0011491
name: EIG7
subset: predisposition
synonym: "EIG7" EXACT [MONDO:Lexical, OMIM:604827]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 7" RELATED [MONDO:Lexical, OMIM:604827]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 7; EIG7" RELATED [OMIM:604827]
synonym: "myoclonic epilepsy, juvenile, 2" RELATED [OMIM:604827]
xref: OMIM:604827 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:604827"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414366
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751729
property_value: exactMatch http://identifiers.org/omim/604827

[Term]
id: MONDO:0011492
name: mandibulofacial dysostosis syndrome, Bauru type
synonym: "mandibulofacial dysostosis syndrome, Bauru type" EXACT [OMIM:604830]
xref: MESH:C565744 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604830 {source="MONDO:equivalentTo"}
xref: UMLS:C1858101 {source="OMIM:604830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565744
property_value: exactMatch http://identifiers.org/omim/604830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858101

[Term]
id: MONDO:0011493
name: Stickler syndrome type 2
def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." [Orphanet:828]
subset: gard_rare {source="GARD:0005020"}
subset: ordo_clinical_subtype {source="Orphanet:90654"}
synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern]
synonym: "Stickler syndrome type II" EXACT [NCIT:C74985]
synonym: "Stickler syndrome, beaded vitreous type" RELATED [OMIM:604841]
synonym: "Stickler syndrome, type 2" RELATED [GARD:0005020]
synonym: "STICKLER syndrome, type II" RELATED [MONDO:Lexical, OMIM:604841]
synonym: "STICKLER syndrome, type II; STL2" RELATED [OMIM:604841]
synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841]
synonym: "STL 2" RELATED [GARD:0005020]
synonym: "STL2" RELATED [MONDO:Lexical, OMIM:604841]
xref: GARD:0005020 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:90654/attributed", source="ORDO:90654/ntbt", source="Orphanet:90654"}
xref: MESH:C537493 {source="MONDO:equivalentTo", source="ORDO:90654/e", source="MONDO:ontobio", source="Orphanet:90654"}
xref: NCIT:C74985 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:604841 {source="MONDO:equivalentTo", source="ORDO:90654/e", source="Orphanet:90654"}
xref: Orphanet:90654 {source="OMIM:604841", source="MONDO:equivalentTo"}
xref: UMLS:C1858084 {source="OMIM:604841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:90654/e", source="Orphanet:90654", source="NCIT:C74985"}
is_a: MONDO:0019354 {source="DC-OMIM:604841", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome
is_a: MONDO:0019687 {source="Orphanet:90654"} ! type 11 collagen-related bone disorder
property_value: exactMatch http://identifiers.org/mesh/C537493
property_value: exactMatch http://identifiers.org/omim/604841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858084
property_value: exactMatch NCIT:C74985
property_value: exactMatch Orphanet:90654
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 xsd:anyURI {source="GARD:0005020"}

[Term]
id: MONDO:0011494
name: hyaluronan metabolism, defect 1N
synonym: "hyaluronan metabolism, defect IN" RELATED [OMIM:604855]
synonym: "hyaluronan metabolism, defect type 1N" EXACT [MONDORULE:4, OMIM:604855]
xref: MESH:C565742 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604855 {source="MONDO:equivalentTo"}
xref: UMLS:C1858083 {source="OMIM:604855", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C565742/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565742
property_value: exactMatch http://identifiers.org/omim/604855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858083

[Term]
id: MONDO:0011495
name: obsolete Langerhans-cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0018310

[Term]
id: MONDO:0011496
name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
def: "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." [Orphanet:93279]
subset: ordo_disease {source="Orphanet:93279"}
synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864]
synonym: "OSCDP" RELATED [MONDO:Lexical, OMIM:604864]
synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864]
synonym: "osteoarthritis with mild chondrodysplasia; OSCDP" RELATED [OMIM:604864]
xref: ICD10:Q77.7 {source="Orphanet:93279", source="ORDO:93279/attributed", source="ORDO:93279/ntbt"}
xref: ICD9:755.63 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565740 {source="MONDO:equivalentTo"}
xref: OMIM:604864 {source="ORDO:93279/e", source="MONDO:equivalentTo", source="Orphanet:93279"}
xref: Orphanet:93279 {source="OMIM:604864", source="MONDO:equivalentTo"}
xref: SCTID:254064009 {source="MONDO:kboom-pr-0.74/0.47/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C1858079 {source="OMIM:604864", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:93279"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:93279"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch http://identifiers.org/mesh/C565740
property_value: exactMatch http://identifiers.org/omim/604864
property_value: exactMatch http://identifiers.org/snomedct/254064009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858079
property_value: exactMatch Orphanet:93279

[Term]
id: MONDO:0011497
name: hereditary North American Indian childhood cirrhosis
def: "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." [Orphanet:168583]
subset: ordo_clinical_subtype {source="Orphanet:168583"}
synonym: "NAIC" RELATED [MONDO:Lexical, OMIM:604901]
synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901]
synonym: "NORTH American Indian childhood cirrhosis; NAIC" RELATED [OMIM:604901]
xref: ICD10:K74.6 {source="ORDO:168583/attributed", source="ORDO:168583/ntbt", source="Orphanet:168583"}
xref: MESH:C565737 {source="MONDO:equivalentTo"}
xref: OMIM:604901 {source="MONDO:equivalentTo", source="Orphanet:168583", source="ORDO:168583/e"}
xref: Orphanet:168583 {source="MONDO:equivalentTo", source="OMIM:604901"}
xref: SCTID:699189004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C1858051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604901", source="Orphanet:168583"}
is_a: MONDO:0015762 {source="Orphanet:168583"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch http://identifiers.org/mesh/C565737
property_value: exactMatch http://identifiers.org/omim/604901
property_value: exactMatch http://identifiers.org/snomedct/699189004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858051
property_value: exactMatch Orphanet:168583

[Term]
id: MONDO:0011498
name: schizophrenia 9
def: "A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2." [DOID:0070085]
synonym: "schizophrenia 9" EXACT [MONDO:Lexical, OMIM:604906]
synonym: "schizophrenia 9 with or without an affective disorder" RELATED [OMIM:604906]
synonym: "schizophrenia 9; SCZD9" RELATED [OMIM:604906]
synonym: "schizophrenia susceptibility locus, chromosome 1Q42-related" RELATED [OMIM:604906]
synonym: "schizophrenia type 9" EXACT [MONDORULE:1, OMIM:604906]
synonym: "SCZD9" EXACT [DOID:0070085, MONDO:Lexical, OMIM:604906]
xref: DOID:0070085 {source="MONDO:equivalentTo"}
xref: OMIM:604906 {source="MONDO:equivalentTo", source="DOID:0070085"}
xref: UMLS:C1858050 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604906"}
is_a: MONDO:0005090 {source="DC-OMIM:604906", source="DOID:0070085"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070085
property_value: exactMatch http://identifiers.org/omim/604906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858050

[Term]
id: MONDO:0011499
name: Okamoto syndrome
def: "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." [Orphanet:2729]
subset: gard_rare {source="GARD:0004064"}
subset: ordo_malformation_syndrome {source="Orphanet:2729"}
synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED [GARD:0004064]
synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED [OMIM:604916]
synonym: "Okamoto syndrome" EXACT [OMIM:604916]
xref: GARD:0004064 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2729/attributed", source="ORDO:2729/ntbt", source="Orphanet:2729"}
xref: MESH:C565736 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604916 {source="MONDO:equivalentTo", source="ORDO:2729/e", source="Orphanet:2729"}
xref: Orphanet:2729 {source="MONDO:equivalentTo", source="OMIM:604916"}
xref: SCTID:722065002 {source="MONDO:kboom-pr-1.00/0.84/13.63", source="MONDO:equivalentTo"}
xref: UMLS:C1858043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604916"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2729", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2729"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C565736
property_value: exactMatch http://identifiers.org/omim/604916
property_value: exactMatch http://identifiers.org/snomedct/722065002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858043
property_value: exactMatch Orphanet:2729
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome xsd:anyURI {source="GARD:0004064"}

[Term]
id: MONDO:0011500
name: Becker nevus syndrome
def: "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis , fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." [https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome]
subset: gard_rare {source="GARD:0003856"}
subset: ordo_disease {source="Orphanet:64755"}
synonym: "Becker nevus syndrome" EXACT [OMIM:604919]
synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856]
synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755]
xref: GARD:0003856 {source="MONDO:equivalentTo"}
xref: ICD10:D22.5 {source="Orphanet:64755", source="ORDO:64755/attributed", source="ORDO:64755/ntbt"}
xref: MESH:C565735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604919 {source="ORDO:64755/e", source="Orphanet:64755", source="MONDO:equivalentTo"}
xref: Orphanet:64755 {source="MONDO:equivalentTo", source="OMIM:604919"}
xref: UMLS:C1858042 {source="Orphanet:64755", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:604919"}
is_a: MONDO:0000383 ! benign reproductive system neoplasm
is_a: MONDO:0000620 ! breast benign neoplasm
is_a: MONDO:0005073 {source="Orphanet:64755"} ! melanocytic nevus
is_a: MONDO:0015853 {source="Orphanet:64755"} ! deficient breast volume or number
is_a: MONDO:0015950 {source="Orphanet:64755", source="indirect"} ! inherited skin tumor
is_a: MONDO:0020063 {source="Orphanet:64755"} ! malformation syndrome with hamartosis
is_a: MONDO:0021148 ! female reproductive system neoplasm
property_value: exactMatch http://identifiers.org/mesh/C565735
property_value: exactMatch http://identifiers.org/omim/604919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858042
property_value: exactMatch Orphanet:64755
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome xsd:anyURI {source="GARD:0003856"}

[Term]
id: MONDO:0011501
name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
def: "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." [Orphanet:166277]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:166277"}
synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED [GARD:0010290]
synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922]
synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277]
xref: GARD:0010290 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:166277", source="ORDO:166277/attributed", source="ORDO:166277/ntbt"}
xref: MESH:C565734 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604922 {source="Orphanet:166277", source="ORDO:166277/e", source="MONDO:equivalentTo", source="GARD:0010290"}
xref: Orphanet:166277 {source="MONDO:equivalentTo", source="OMIM:604922"}
xref: UMLS:C1858032 {source="Orphanet:166277", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604922", source="GARD:0010290", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015877 {source="Orphanet:166277"} ! malformative syndrome with dentinogenesis imperfecta
is_a: MONDO:0019704 {source="Orphanet:166277"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C565734
property_value: exactMatch http://identifiers.org/omim/604922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858032
property_value: exactMatch Orphanet:166277
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta xsd:anyURI {source="GARD:0010290"}

[Term]
id: MONDO:0011502
name: Wolfram syndrome 2
def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CISD2 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WFS2" EXACT [DOID:0110630, MONDO:Lexical, OMIM:604928]
synonym: "Wolfram syndrome 2" EXACT [MONDO:Lexical, OMIM:604928]
synonym: "WOLFRAM syndrome 2; WFS2" RELATED [OMIM:604928]
synonym: "Wolfram syndrome caused by mutation in CISD2" EXACT [MONDO:design_pattern]
synonym: "Wolfram syndrome type 2" EXACT [DOID:0110630, MONDORULE:1, OMIM:604928]
xref: DOID:0110630 {source="MONDO:equivalentTo"}
xref: ICD10:E13.8 {source="DOID:0110630"}
xref: MESH:C565733 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:604928 {source="MONDO:equivalentTo", source="DOID:0110630"}
xref: UMLS:C1858028 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604928"}
is_a: MONDO:0018105 {source="DC-OMIM:604928", source="DOID:0110630", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome
property_value: exactMatch DOID:0110630
property_value: exactMatch http://identifiers.org/mesh/C565733
property_value: exactMatch http://identifiers.org/omim/604928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858028

[Term]
id: MONDO:0011503
name: cortisone reductase deficiency 1
def: "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." [NCIT:C131849]
synonym: "apparent cortisone reductase deficiency" EXACT [PMID:21325058]
synonym: "cortisone reductase deficiency 1" EXACT [MONDO:Lexical, OMIM:604931]
synonym: "cortisone reductase deficiency 1; CORTRD1" RELATED [OMIM:604931]
synonym: "cortisone reductase deficiency caused by mutation in H6PD" EXACT [MONDO:design_pattern]
synonym: "cortisone reductase deficiency type 1" EXACT [DOID:0090141, MONDORULE:1, NCIT:C131849, OMIM:604931]
synonym: "CORTRD1" EXACT [DOID:0090141, MONDO:Lexical, OMIM:604931]
synonym: "H6PD cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hexose-6-phosphate dehydrogenase deficiency" EXACT [NCIT:C131849]
xref: DOID:0090141 {source="MONDO:equivalentTo"}
xref: NCIT:C131849 {source="DOID:0090141", source="MONDO:equivalentTo"}
xref: OMIM:604931 {source="DOID:0090141", source="MONDO:equivalentTo"}
xref: UMLS:C3551716 {source="NCBI:mim2gene_medline", source="OMIM:604931", source="MONDO:equivalentTo"}
is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MONDO:Redundant", source="OMIM:604931", source="ORDO:168588/btnt"} ! cortisone reductase deficiency
property_value: exactMatch DOID:0090141
property_value: exactMatch http://identifiers.org/omim/604931
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3551716
property_value: exactMatch NCIT:C131849

[Term]
id: MONDO:0011504
name: NDE1-related microhydranencephaly
def: "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." [Orphanet:443162]
subset: ordo_malformation_syndrome {source="Orphanet:443162"}
synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013]
synonym: "MHAC" EXACT [MONDO:Lexical, OMIM:605013, Orphanet:443162]
synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013]
synonym: "microhydranencephaly; MHAC" RELATED [OMIM:605013]
xref: GARD:0010216 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q04.8 {source="ORDO:443162/attributed", source="ORDO:443162/ntbt", source="Orphanet:443162"}
xref: MESH:C537555 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605013 {source="MONDO:equivalentTo", source="ORDO:443162/e", source="Orphanet:443162"}
xref: Orphanet:443162 {source="MONDO:equivalentTo"}
xref: UMLS:C1857977 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605013"}
is_a: MONDO:0015660 ! sporadic fetal brain disruption sequence
is_a: MONDO:0017119 {source="Orphanet:443162"} ! syndrome with microcephaly as major feature
property_value: exactMatch http://identifiers.org/mesh/C537555
property_value: exactMatch http://identifiers.org/omim/605013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857977
property_value: exactMatch Orphanet:443162

[Term]
id: MONDO:0011505
name: familial hypobetalipoproteinemia 2
def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ANGPTL3 hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "combined familial hypolipidemia" EXACT [DOID:0111061]
synonym: "familial hypobetalipoproteinemia type 2" EXACT [DOID:0111061, MONDORULE:1]
synonym: "FHBL2" EXACT [DOID:0111061, MONDO:Lexical, OMIM:605019]
synonym: "hypobetalipoproteinemia caused by mutation in ANGPTL3" EXACT [MONDO:design_pattern]
synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical, OMIM:605019]
synonym: "hypobetalipoproteinemia, familial, 2; FHBL2" RELATED [OMIM:605019]
synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1, OMIM:605019]
synonym: "hypolipidemia, familial, combined" RELATED [OMIM:605019]
xref: DOID:0111061 {source="MONDO:equivalentTo"}
xref: MESH:C565732 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605019 {source="DOID:0111061", source="MONDO:equivalentTo"}
xref: UMLS:C1857970 {source="NCBI:mim2gene_medline", source="OMIM:605019", source="MONDO:equivalentTo"}
is_a: MONDO:0017774 {source="DC-OMIM:605019", source="DOID:0111061", source="MESH:C565732", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia
property_value: closeMatch Orphanet:426
property_value: exactMatch DOID:0111061
property_value: exactMatch http://identifiers.org/mesh/C565732
property_value: exactMatch http://identifiers.org/omim/605019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857970

[Term]
id: MONDO:0011506
name: familial infantile myoclonic epilepsy
subset: ordo_disease {source="Orphanet:352582"}
synonym: "Eim" RELATED [OMIM:605021]
synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582]
synonym: "FIME" EXACT [MONDO:Lexical, OMIM:605021, Orphanet:352582]
synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021]
synonym: "myoclonic epilepsy, familial infantile; FIME" RELATED [OMIM:605021]
xref: ICD10:G40.3 {source="Orphanet:352582", source="ORDO:352582/attributed", source="ORDO:352582/ntbt"}
xref: OMIM:605021 {source="Orphanet:352582", source="ORDO:352582/e", source="MONDO:equivalentTo"}
xref: Orphanet:352582 {source="MONDO:equivalentTo", source="OMIM:605021"}
xref: UMLS:C0917800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605021", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015653 {source="Orphanet:352582"} ! monogenic epilepsy
is_a: MONDO:0016022 {source="DC-OMIM:605021"} ! early myoclonic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019486 ! myoclonic epilepsy of infancy
property_value: exactMatch http://identifiers.org/omim/605021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917800
property_value: exactMatch Orphanet:352582

[Term]
id: MONDO:0011507
name: diabetes mellitus, congenital autoimmune
synonym: "diabetes mellitus, congenital autoimmune" EXACT [OMIM:605026]
xref: MESH:C565730 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605026 {source="MONDO:equivalentTo"}
xref: UMLS:C1857958 {source="OMIM:605026", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565730
property_value: exactMatch http://identifiers.org/omim/605026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857958

[Term]
id: MONDO:0011508
name: lymphoma, non-Hodgkin, familial
synonym: "lymphoma, non-Hodgkin, familial" EXACT [OMIM:605027]
synonym: "non-Hodgkin lymphoma" RELATED [OMIM:605027]
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:605027 {source="MONDO:equivalentTo"}
xref: SCTID:118601006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.09"}
is_a: MONDO:0018908 {source="MONDOLEX:0011508", source="ORDO:547/btnt"} ! non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/omim/605027
property_value: exactMatch http://identifiers.org/snomedct/118601006

[Term]
id: MONDO:0011509
name: low density lipoprotein cholesterol, mild elevation of
synonym: "Ldlc, mild elevation of" RELATED [OMIM:605028]
synonym: "low density lipoprotein cholesterol, mild elevation of" EXACT [OMIM:605028]
xref: OMIM:605028 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857956
property_value: exactMatch http://identifiers.org/omim/605028

[Term]
id: MONDO:0011510
name: Bohring-Opitz syndrome
def: "Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." [Orphanet:97297]
subset: gard_rare {source="GARD:0010140"}
subset: ordo_malformation_syndrome {source="Orphanet:97297"}
synonym: "Bohring syndrome" EXACT [OMIM:605039, Orphanet:97297]
synonym: "Bohring-Opitz syndrome" EXACT [MONDO:Lexical, OMIM:605039]
synonym: "BOHRING-Opitz syndrome; BOPS" RELATED [OMIM:605039]
synonym: "BOPS" RELATED [MONDO:Lexical, OMIM:605039]
synonym: "Bos syndrome" EXACT [Orphanet:97297]
synonym: "C-like syndrome" EXACT [Orphanet:97297]
synonym: "C-like syndrome" RELATED [OMIM:605039]
synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297]
synonym: "Opitz trigonocephaly-like syndrome" EXACT [Orphanet:97297]
synonym: "Opitz trigonocephaly-like syndrome" RELATED [OMIM:605039]
xref: GARD:0010140 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:97297/attributed", source="ORDO:97297/ntbt", source="Orphanet:97297"}
xref: MESH:C537419 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131533 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:605039 {source="MONDO:equivalentTo", source="ORDO:97297/e", source="Orphanet:97297"}
xref: Orphanet:97297 {source="OMIM:605039", source="MONDO:equivalentTo"}
xref: SCTID:720565000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
xref: UMLS:C0796232 {source="MEDGEN:kboom-pr98-c99", source="OMIM:605039", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131533", source="Orphanet:97297"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:97297", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:97297"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537419
property_value: exactMatch http://identifiers.org/omim/605039
property_value: exactMatch http://identifiers.org/snomedct/720565000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796232
property_value: exactMatch NCIT:C131533
property_value: exactMatch Orphanet:97297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome xsd:anyURI {source="GARD:0010140"}

[Term]
id: MONDO:0011511
name: clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
synonym: "Chzam" RELATED [OMIM:605040]
synonym: "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" EXACT [OMIM:605040]
xref: MESH:C565729 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605040 {source="MONDO:equivalentTo"}
xref: UMLS:C1857942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605040"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565729
property_value: exactMatch http://identifiers.org/omim/605040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857942

[Term]
id: MONDO:0011512
name: Brooke-Spiegler syndrome
def: "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." [Orphanet:79493]
comment: Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728
subset: ordo_disease {source="Orphanet:79493"}
synonym: "Brooke-Spiegler syndrome" EXACT [MONDO:Lexical, OMIM:605041]
synonym: "Brooke-Spiegler syndrome; BRSS" RELATED [OMIM:605041]
synonym: "BRSS" RELATED [MONDO:Lexical, OMIM:605041]
synonym: "Bss" RELATED [OMIM:605041]
synonym: "CYLD cutaneous syndrome" EXACT [Orphanet:79493]
synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041]
xref: DOID:0050693 {source="MONDO:equivalentTo"}
xref: GARD:0010179 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:605041 {source="DOID:0050693", source="ORDO:79493/e", source="MONDO:equivalentTo", source="Orphanet:79493"}
xref: Orphanet:79493 {source="MONDO:equivalentTo", source="OMIM:605041"}
xref: SCTID:703531009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1857941 {source="ORDO:79493/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605041", source="Orphanet:79493"}
is_a: MONDO:0000426 {source="DOID:0050693", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015950 {source="Orphanet:79493", source="indirect"} ! inherited skin tumor
is_a: MONDO:0020180 {source="Orphanet:79493"} ! palpebral piliary tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79493"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch DOID:0050693
property_value: exactMatch http://identifiers.org/omim/605041
property_value: exactMatch http://identifiers.org/snomedct/703531009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857941
property_value: exactMatch Orphanet:79493

[Term]
id: MONDO:0011513
name: Alzheimer disease, familial early-onset, with Coexisting amyloid and prion pathology
synonym: "Alzheimer disease, familial early-onset, with Coexisting amyloid and prion pathology" EXACT [OMIM:605055]
xref: MESH:C565728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605055 {source="MONDO:equivalentTo"}
xref: UMLS:C1857933 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605055"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch http://identifiers.org/mesh/C565728
property_value: exactMatch http://identifiers.org/omim/605055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857933

[Term]
id: MONDO:0011514
name: tricuspid atresia (disease)
def: "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms)." [Orphanet:1209]
subset: ordo_morphological_anomaly {source="Orphanet:1209"}
synonym: "congenital agenesis of the tricuspid valve" RELATED [GARD:0005274]
synonym: "congenital atresia of tricuspid valve" EXACT [NCIT:C85202]
synonym: "tricuspid atresia" EXACT [MONDO:ambiguous, OMIM:605067]
synonym: "tricuspid valve atresia" EXACT [NCIT:C85202]
xref: DOID:0080169 {source="MONDO:equivalentTo"}
xref: GARD:0005274 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0011662 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q22.4 {source="ORDO:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"}
xref: MedDRA:10049767 {source="ORDO:1209/e", source="Orphanet:1209"}
xref: MESH:D018785 {source="MONDO:equivalentTo", source="ORDO:1209/e", source="MONDO:ontobio", source="Orphanet:1209"}
xref: NCIT:C85202 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:605067 {source="DOID:0080169", source="MONDO:equivalentTo", source="ORDO:1209/e", source="Orphanet:1209"}
xref: Orphanet:1209 {source="MONDO:equivalentTo", source="OMIM:605067"}
xref: SCTID:63042009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.11"}
xref: UMLS:C0243002 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1209/e", source="NCIT:C85202", source="OMIM:605067", source="Orphanet:1209"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease
is_a: MONDO:0020289 {source="Orphanet:1209"} ! congenital tricuspid malformation
property_value: exactMatch DOID:0080169
property_value: exactMatch http://identifiers.org/meddra/10049767
property_value: exactMatch http://identifiers.org/mesh/D018785
property_value: exactMatch http://identifiers.org/omim/605067
property_value: exactMatch http://identifiers.org/snomedct/63042009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243002
property_value: exactMatch NCIT:C85202
property_value: exactMatch Orphanet:1209

[Term]
id: MONDO:0011515
name: obsolete papillary renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0017884

[Term]
id: MONDO:0011516
name: early response to neural induction gene
synonym: "early response to neural induction gene" EXACT [OMIM:605105]
synonym: "Erni" RELATED [OMIM:605105]
xref: OMIM:605105 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854633
property_value: exactMatch http://identifiers.org/omim/605105

[Term]
id: MONDO:0011517
name: pseudohyperaldosteronism type 2
def: "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." [Orphanet:88660]
subset: ordo_disease {source="Orphanet:88660"}
synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [Orphanet:88660]
synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [Orphanet:88660]
synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115]
synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115]
xref: ICD10:I15.1 {source="ORDO:88660/attributed", source="ORDO:88660/ntbt", source="Orphanet:88660"}
xref: MESH:C565359 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605115 {source="MONDO:equivalentTo", source="ORDO:88660/e", source="Orphanet:88660"}
xref: Orphanet:88660 {source="OMIM:605115", source="MONDO:equivalentTo"}
xref: SCTID:766937004 {source="MONDO:equivalentTo"}
xref: UMLS:C1854631 {source="OMIM:605115", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88660"}
is_a: MONDO:0015512 {source="Orphanet:88660"} ! genetic hypertension
is_a: MONDO:0024664 ! hypertension, pregnancy-induced
property_value: exactMatch http://identifiers.org/mesh/C565359
property_value: exactMatch http://identifiers.org/omim/605115
property_value: exactMatch http://identifiers.org/snomedct/766937004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854631
property_value: exactMatch Orphanet:88660

[Term]
id: MONDO:0011518
name: Wiedemann-Steiner syndrome
def: "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." [https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome]
subset: gard_rare {source="GARD:0005565"}
subset: ordo_malformation_syndrome {source="Orphanet:319182"}
synonym: "A syndrome of abnormal facies, short stature, and psychomotor retardation" RELATED [GARD:0005565]
synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [OMIM:605130]
synonym: "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:319182]
synonym: "WDSTS" RELATED [MONDO:Lexical, OMIM:605130]
synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565]
synonym: "Wiedemann-Steiner syndrome" EXACT [MONDO:Lexical, OMIM:605130]
synonym: "Wiedemann-Steiner syndrome; WDSTS" RELATED [OMIM:605130]
xref: GARD:0005565 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:319182", source="ORDO:319182/attributed", source="ORDO:319182/ntbt"}
xref: MESH:C536704 {source="MONDO:equivalentTo"}
xref: OMIM:605130 {source="ORDO:319182/e", source="Orphanet:319182", source="MONDO:equivalentTo"}
xref: Orphanet:319182 {source="MONDO:equivalentTo", source="OMIM:605130"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319182", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:319182"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854630
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931294
property_value: exactMatch http://identifiers.org/mesh/C536704
property_value: exactMatch http://identifiers.org/omim/605130
property_value: exactMatch Orphanet:319182
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome xsd:anyURI {source="GARD:0005565"}

[Term]
id: MONDO:0011519
name: autosomal dominant nonsyndromic deafness 23
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 23" EXACT [DOID:0110553]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 23" EXACT [DOID:0110553, MONDORULE:2]
synonym: "deafness, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:605192]
synonym: "deafness, autosomal dominant 23; DFNA23" RELATED [OMIM:605192]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" RELATED [GARD:0001708]
synonym: "deafness, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:605192]
synonym: "DFNA 23" RELATED [GARD:0001708]
synonym: "DFNA23" EXACT [DOID:0110553, MONDO:Lexical, OMIM:605192]
synonym: "SIX1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110553 {source="MONDO:equivalentTo"}
xref: GARD:0001708 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110553"}
xref: MESH:C565357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605192 {source="MONDO:equivalentTo", source="DOID:0110553"}
xref: UMLS:C1854594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605192"}
is_a: MONDO:0019587 {source="DC-OMIM:605192", source="DOID:0110553", source="MONDO:Redundant", source="OMIM:605192"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110553
property_value: exactMatch http://identifiers.org/mesh/C565357
property_value: exactMatch http://identifiers.org/omim/605192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854594

[Term]
id: MONDO:0011520
name: systemic lupus erythematosus, susceptibility to, 2
subset: predisposition
synonym: "SLEB2" EXACT [MONDO:Lexical, OMIM:605218]
synonym: "susceptibility to systemic lupus erythematosus 2" EXACT [OMIM:605218]
synonym: "systemic lupus erythematosus, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:605218]
synonym: "systemic lupus erythematosus, susceptibility to, 2; SLEB2" EXACT [OMIM:605218]
synonym: "systemic lupus erythematosus, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:605218]
xref: OMIM:605218 {source="MONDO:equivalentTo"}
xref: UMLS:C1854577 {source="OMIM:605218", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:605218"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: exactMatch http://identifiers.org/omim/605218
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854577

[Term]
id: MONDO:0011521
name: inflammatory bowel disease 7
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36." [DOID:0110882, PMID:19122664]
synonym: "IBD7" EXACT [DOID:0110882, MONDO:Lexical, OMIM:605225]
synonym: "inflammatory bowel disease 7" EXACT [MONDO:Lexical, OMIM:605225]
synonym: "inflammatory bowel disease 7; IBD7" EXACT [OMIM:605225]
synonym: "inflammatory bowel disease type 7" EXACT [DOID:0110882, MONDORULE:1]
xref: DOID:0110882 {source="MONDO:equivalentTo"}
xref: MESH:C565353 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605225 {source="MONDO:equivalentTo", source="DOID:0110882"}
xref: UMLS:C1854573 {source="OMIM:605225", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:605225", source="DOID:0110882", source="MESH:C565353", source="OMIM:605225"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110882
property_value: exactMatch http://identifiers.org/mesh/C565353
property_value: exactMatch http://identifiers.org/omim/605225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854573

[Term]
id: MONDO:0011522
name: hereditary spastic paraplegia 14
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28." [DOID:0110767, PMID:10877981]
subset: ordo_disease {source="Orphanet:100995"}
synonym: "autosomal recessive spastic paraplegia 14" EXACT [DOID:0110767]
synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767]
synonym: "hereditary spastic paraplegia type 14" EXACT [DOID:0110767, MONDORULE:2]
synonym: "spastic paraplegia 14" EXACT [GARD:0009589]
synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM:605229]
synonym: "spastic paraplegia 14, autosomal recessive; SPG14" EXACT [OMIM:605229]
synonym: "SPG14" EXACT [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995]
xref: DOID:0110767 {source="MONDO:equivalentTo"}
xref: GARD:0009589 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110767", source="ORDO:100995/attributed", source="ORDO:100995/ntbt", source="Orphanet:100995"}
xref: MESH:C537486 {source="ORDO:100995/e", source="MONDO:equivalentTo", source="Orphanet:100995", source="MONDO:ontobio"}
xref: OMIM:605229 {source="DOID:0110767", source="ORDO:100995/e", source="MONDO:equivalentTo", source="Orphanet:100995"}
xref: Orphanet:100995 {source="DOID:0110767", source="OMIM:605229", source="MONDO:equivalentTo"}
xref: UMLS:C1854568 {source="MEDGEN:kboom-pr98-c99", source="OMIM:605229", source="ORDO:100995/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100995"}
is_a: MONDO:0017915 {source="Orphanet:100995"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0110767
property_value: exactMatch http://identifiers.org/mesh/C537486
property_value: exactMatch http://identifiers.org/omim/605229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854568
property_value: exactMatch Orphanet:100995

[Term]
id: MONDO:0011523
name: Bardet-Biedl syndrome 6
subset: gard_rare {source="GARD:0010205"}
synonym: "Bardet-Biedl syndrome 6" EXACT [MONDO:Lexical, OMIM:605231]
synonym: "Bardet-Biedl syndrome 6; BBS6" EXACT [OMIM:605231]
synonym: "Bardet-Biedl syndrome type 6" EXACT [DOID:0110128, MONDORULE:1, OMIM:605231]
synonym: "BBS6" EXACT [DOID:0110128, MONDO:Lexical, OMIM:605231]
xref: DOID:0110128 {source="MONDO:equivalentTo"}
xref: GARD:0010205 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110128"}
xref: MESH:C565738 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605231 {source="DOID:0110128", source="MONDO:equivalentTo"}
xref: UMLS:C1858054 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:605231", source="DOID:0110128", source="MESH:C565738", source="OMIM:605231"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110128
property_value: exactMatch http://identifiers.org/mesh/C565738
property_value: exactMatch http://identifiers.org/omim/605231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858054
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 xsd:anyURI {source="GARD:0010205"}

[Term]
id: MONDO:0011524
name: Dianzani autoimmune lymphoproliferative disease
def: "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." [Orphanet:275523]
subset: ordo_disease {source="Orphanet:275523"}
synonym: "autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [GARD:0009797]
synonym: "DALD" EXACT [OMIM:605233, Orphanet:275523]
synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233]
synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797]
synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797]
xref: GARD:0009797 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D47.9 {source="ORDO:275523/attributed", source="ORDO:275523/ntbt", source="Orphanet:275523"}
xref: MESH:C535950 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605233 {source="MONDO:equivalentTo", source="ORDO:275523/e", source="Orphanet:275523"}
xref: Orphanet:275523 {source="MONDO:equivalentTo", source="OMIM:605233"}
xref: SCTID:721093000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2931071 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:275523/e", source="Orphanet:275523", source="OMIM:605233"}
is_a: MONDO:0016537 {source="MESH:C535950/inferred", source="Orphanet:275523"} ! lymphoproliferative syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854565
property_value: exactMatch http://identifiers.org/mesh/C535950
property_value: exactMatch http://identifiers.org/omim/605233
property_value: exactMatch http://identifiers.org/snomedct/721093000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931071
property_value: exactMatch Orphanet:275523

[Term]
id: MONDO:0011525
name: Carney complex type 2
synonym: "Carney complex, type 2" EXACT [MONDO:Lexical, OMIM:605244]
synonym: "Carney complex, type 2; CNC2" EXACT [OMIM:605244]
synonym: "Carney Myxoma-endocrine Complex, type 2" EXACT [OMIM:605244]
synonym: "CNC2" EXACT [MONDO:Lexical, OMIM:605244]
xref: OMIM:605244 {source="MONDO:equivalentTo"}
is_a: MONDO:0015285 {source="DC-OMIM:605244"} ! Carney complex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1413542
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854540
property_value: exactMatch http://identifiers.org/omim/605244

[Term]
id: MONDO:0011526
name: obsolete Sebastian syndrome
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0011527
name: Charcot-Marie-Tooth disease type 4E
def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." [Orphanet:99951]
comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"}
subset: gard_rare
subset: ordo_disease {source="Orphanet:99951"}
synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951]
synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195]
synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203]
synonym: "Charcot-Marie-Tooth disease type 4E" EXACT [GARD:0006170]
synonym: "Charcot-Marie-Tooth disease, type 4E" RELATED [OMIM:605253]
synonym: "Charcot-Marie-Tooth neuropathy type 4E" EXACT [DOID:0110195]
synonym: "Charcot-Marie-Tooth neuropathy, type 4E" RELATED [OMIM:605253]
synonym: "CHN" RELATED [MONDO:Lexical, OMIM:605253]
synonym: "CMT 4E" RELATED [GARD:0009203]
synonym: "CMT4E" EXACT [DOID:0110195, GARD:0006170, Orphanet:99951]
synonym: "congenital hypomyelinating neuropathy (CHN)" RELATED [GARD:0009203]
synonym: "congenital hypomyelination neuropathy" RELATED [GARD:0006170]
synonym: "hypomyelination, Severe congenital" RELATED [OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating" RELATED [GARD:0009203]
synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical, OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; CHN" RELATED [OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1" RELATED [OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253]
xref: DOID:0110195 {source="MONDO:equivalentTo"}
xref: GARD:0006170 {source="MONDO:equivalentTo"}
xref: GARD:0009203 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99951", source="DOID:0110195", source="ORDO:99951/attributed", source="ORDO:99951/ntbt"}
xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99951/e"}
xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="ORDO:99951/e"}
xref: Orphanet:99951 {source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="OMIM:605253"}
xref: SCTID:763135001 {source="MONDO:equivalentTo"}
is_a: MONDO:0018995 {source="DOID:0110195", source="Orphanet:99951"} ! Charcot-Marie-Tooth disease type 4
is_a: MONDO:0033352 {source="OMIM:605253"} ! neuropathy, congenital hypomelinating
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393818
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551756
property_value: exactMatch DOID:0110195
property_value: exactMatch http://identifiers.org/mesh/C535301
property_value: exactMatch http://identifiers.org/omim/605253
property_value: exactMatch http://identifiers.org/snomedct/763135001
property_value: exactMatch Orphanet:99951
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy xsd:anyURI {source="GARD:0006170"}

[Term]
id: MONDO:0011528
name: hyper-IgM syndrome type 2
def: "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." [https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_2]
subset: gard_rare {source="GARD:0010578"}
subset: ordo_clinical_subtype {source="Orphanet:101089"}
synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089]
synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758]
synonym: "AICDA hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "aid deficiency" EXACT [DOID:0060758, Orphanet:101089]
synonym: "HIGM2" EXACT [DOID:0060758, MONDO:Lexical, OMIM:605258, Orphanet:101089]
synonym: "hyper IgM syndrome 2" RELATED [GARD:0010578]
synonym: "hyper-IgM syndrome 2" RELATED [OMIM:605258]
synonym: "hyper-IgM syndrome caused by mutation in AICDA" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome type 2" EXACT [DOID:0060758]
synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578]
synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758]
synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258]
synonym: "immunodeficiency with hyper-IgM, type 2; HIGM2" RELATED [OMIM:605258]
xref: DOID:0060758 {source="MONDO:equivalentTo"}
xref: GARD:0010578 {source="MONDO:equivalentTo"}
xref: ICD10:D80.5 {source="Orphanet:101089", source="DOID:0060758", source="ORDO:101089/attributed", source="ORDO:101089/ntbt"}
xref: NCIT:C129074 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:605258 {source="Orphanet:101089", source="ORDO:101089/e", source="MONDO:equivalentTo", source="DOID:0060758"}
xref: Orphanet:101089 {source="OMIM:605258", source="MONDO:equivalentTo", source="DOID:0060758"}
xref: SCTID:403836001 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015976 {source="Orphanet:101089", source="PMID:11007475"} ! hyper-IgM syndrome without susceptibility to opportunistic infections
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720956
property_value: exactMatch DOID:0060758
property_value: exactMatch http://identifiers.org/omim/605258
property_value: exactMatch http://identifiers.org/snomedct/403836001
property_value: exactMatch NCIT:C129074
property_value: exactMatch Orphanet:101089
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 xsd:anyURI {source="GARD:0010578"}

[Term]
id: MONDO:0011529
name: spinocerebellar ataxia type 13
def: "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." [Orphanet:98768]
subset: ordo_disease {source="Orphanet:98768"}
synonym: "autosomal dominant cerebellar ataxia with mental retardation" RELATED [GARD:0009611]
synonym: "cerebellar ataxia, autosomal dominant with mental retardation" RELATED [GARD:0009611]
synonym: "SCA13" EXACT [MONDO:Lexical, OMIM:605259, Orphanet:98768]
synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259]
synonym: "spinocerebellar ataxia 13; SCA13" RELATED [OMIM:605259]
synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259]
xref: DOID:0050963 {source="MONDO:equivalentTo"}
xref: GARD:0009611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98768", source="ORDO:98768/attributed", source="ORDO:98768/ntbt"}
xref: MESH:C537195 {source="ORDO:98768/e", source="MONDO:equivalentTo", source="Orphanet:98768"}
xref: OMIM:605259 {source="ORDO:98768/e", source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768"}
xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"}
xref: SCTID:719209002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1854488 {source="MEDGEN:kboom-pr98-c99", source="ORDO:98768/e", source="OMIM:605259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98768"}
xref: UMLS:C4304884 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98768"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050963
property_value: exactMatch http://identifiers.org/mesh/C537195
property_value: exactMatch http://identifiers.org/omim/605259
property_value: exactMatch http://identifiers.org/snomedct/719209002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304884
property_value: exactMatch Orphanet:98768

[Term]
id: MONDO:0011530
name: mesomelic dysplasia, Savarirayan type
def: "Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." [Orphanet:85170]
subset: gard_rare {source="GARD:0010584"}
subset: ordo_malformation_syndrome {source="Orphanet:85170"}
synonym: "mesomelic dysplasia Savarirayan type" RELATED [GARD:0010584]
synonym: "mesomelic dysplasia with absent fibulas and triangular tibias" EXACT [OMIM:605274, Orphanet:85170]
synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274]
synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584]
synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170]
xref: GARD:0010584 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:85170/attributed", source="ORDO:85170/ntbt", source="Orphanet:85170"}
xref: MESH:C565349 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605274 {source="MONDO:equivalentTo", source="ORDO:85170/e", source="Orphanet:85170"}
xref: Orphanet:85170 {source="MONDO:equivalentTo", source="OMIM:605274"}
xref: SCTID:715652002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C1854470 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85170", source="OMIM:605274"}
is_a: MONDO:0019697 {source="Orphanet:85170"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C565349
property_value: exactMatch http://identifiers.org/omim/605274
property_value: exactMatch http://identifiers.org/snomedct/715652002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854470
property_value: exactMatch Orphanet:85170
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type xsd:anyURI {source="GARD:0010584"}

[Term]
id: MONDO:0011531
name: Noonan syndrome 2
subset: gard_rare {source="GARD:0010698"}
synonym: "autosomal recessive Noonan syndrome" RELATED [GARD:0010698]
synonym: "Noonan syndrome 2" EXACT [MONDO:Lexical, OMIM:605275]
synonym: "Noonan syndrome 2; NS2" RELATED [OMIM:605275]
synonym: "Noonan syndrome autosomal recessive" RELATED [GARD:0010698]
synonym: "Noonan syndrome type 2" EXACT [DOID:0060580, MONDORULE:1, OMIM:605275]
synonym: "Noonan syndrome, autosomal recessive" RELATED [OMIM:605275]
synonym: "NS2" EXACT [DOID:0060580, MONDO:Lexical, OMIM:605275]
xref: DOID:0060580 {source="MONDO:equivalentTo"}
xref: GARD:0010698 {source="MONDO:equivalentTo"}
xref: MESH:C548081 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605275 {source="MONDO:equivalentTo", source="DOID:0060580"}
xref: UMLS:C1854469 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605275"}
is_a: MONDO:0018997 {source="DC-OMIM:605275", source="DOID:0060580", source="MESH:C548081", source="OMIM:605275"} ! Noonan syndrome
property_value: exactMatch DOID:0060580
property_value: exactMatch http://identifiers.org/mesh/C548081
property_value: exactMatch http://identifiers.org/omim/605275
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854469
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 xsd:anyURI {source="GARD:0010698"}

[Term]
id: MONDO:0011532
name: hereditary spastic paraplegia 13
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:100994"}
synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766]
synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994]
synonym: "hereditary spastic paraplegia caused by mutation in HSPD1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 13" EXACT [DOID:0110766, MONDORULE:2]
synonym: "HSPD1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 13" RELATED [GARD:0009616]
synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280]
synonym: "spastic paraplegia 13, autosomal dominant; SPG13" RELATED [OMIM:605280]
synonym: "SPG13" EXACT [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994]
xref: DOID:0110766 {source="MONDO:equivalentTo"}
xref: GARD:0009616 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110766", source="Orphanet:100994", source="ORDO:100994/attributed", source="ORDO:100994/ntbt"}
xref: MESH:C537485 {source="Orphanet:100994", source="ORDO:100994/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="ORDO:100994/e", source="MONDO:equivalentTo"}
xref: Orphanet:100994 {source="DOID:0110766", source="MONDO:equivalentTo", source="OMIM:605280"}
xref: UMLS:C1854467 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:100994", source="NCBI:mim2gene_medline", source="ORDO:100994/e", source="MONDO:equivalentTo", source="OMIM:605280"}
is_a: MONDO:0017914 {source="Orphanet:100994"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110766
property_value: exactMatch http://identifiers.org/mesh/C537485
property_value: exactMatch http://identifiers.org/omim/605280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854467
property_value: exactMatch Orphanet:100994

[Term]
id: MONDO:0011533
name: temtamy preaxial brachydactyly syndrome
def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene." [DOID:0050814, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, PMID:21129728]
subset: gard_rare {source="GARD:0009679"}
subset: ordo_malformation_syndrome {source="Orphanet:363417"}
synonym: "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED [GARD:0009679]
synonym: "preaxial brachydactyly syndrome, TEMTAMY type" EXACT [DOID:0050814]
synonym: "preaxial brachydactyly syndrome, Temtamy type" RELATED [OMIM:605282]
synonym: "temtamy preaxial brachydactyly syndrome" EXACT [MONDO:Lexical, OMIM:605282]
synonym: "TEMTAMY preaxial brachydactyly syndrome; TPBS" RELATED [OMIM:605282]
synonym: "TPBS" RELATED [MONDO:Lexical, OMIM:605282]
xref: DOID:0050814 {source="MONDO:equivalentTo"}
xref: GARD:0009679 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:363417/attributed", source="ORDO:363417/ntbt", source="Orphanet:363417"}
xref: MESH:C536958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605282 {source="MONDO:equivalentTo", source="DOID:0050814", source="ORDO:363417/e", source="Orphanet:363417"}
xref: Orphanet:363417 {source="MONDO:equivalentTo", source="OMIM:605282"}
xref: UMLS:C1854466 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605282", source="Orphanet:363417"}
is_a: MONDO:0006025 {source="DOID:0050814", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015336 {source="Orphanet:363417"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0017742 {source="Orphanet:363417"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:363417"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018292 {source="MONDO:Redundant", source="Orphanet:363417"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0018295 {source="Orphanet:363417"} ! congenital disorder of glycosylation with deafness as a major feature
is_a: MONDO:0019066 {source="Orphanet:363417", source="Orphanet:363417/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0050814
property_value: exactMatch http://identifiers.org/mesh/C536958
property_value: exactMatch http://identifiers.org/omim/605282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854466
property_value: exactMatch Orphanet:363417
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome xsd:anyURI {source="GARD:0009679"}

[Term]
id: MONDO:0011534
name: Charcot-Marie-Tooth disease type 4G
def: "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." [Orphanet:99953]
subset: ordo_disease {source="Orphanet:99953"}
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [OMIM:605285]
synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [OMIM:605285]
synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [DOID:0110196]
synonym: "Charcot-Marie-Tooth neuropathy, type 4G" RELATED [OMIM:605285]
synonym: "CMT4G" EXACT [DOID:0110196, Orphanet:99953]
synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [DOID:0110196]
synonym: "hereditary motor and sensory neuropathy, Russe type" EXACT [OMIM:605285, Orphanet:99953]
synonym: "HK1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HMSNR" EXACT [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953]
synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285]
synonym: "neuropathy, hereditary motor and sensory, Russe type; HMSNR" RELATED [OMIM:605285]
xref: DOID:0110196 {source="MONDO:equivalentTo"}
xref: GARD:0010132 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:99953", source="DOID:0110196", source="ORDO:99953/attributed", source="ORDO:99953/ntbt"}
xref: MESH:C535813 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605285 {source="ORDO:99953/e", source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196"}
xref: Orphanet:99953 {source="MONDO:equivalentTo", source="DOID:0110196", source="OMIM:605285"}
xref: SCTID:715799004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1854449 {source="Orphanet:99953", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605285"}
is_a: MONDO:0002316 {source="DC-OMIM:605285", source="MONDOLEX:0011534", source="linkedlifedata"} ! motor peripheral neuropathy
is_a: MONDO:0018995 {source="DOID:0110196", source="MONDO:Redundant", source="Orphanet:99953", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110196
property_value: exactMatch http://identifiers.org/mesh/C535813
property_value: exactMatch http://identifiers.org/omim/605285
property_value: exactMatch http://identifiers.org/snomedct/715799004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854449
property_value: exactMatch Orphanet:99953

[Term]
id: MONDO:0011535
name: split hand-foot malformation 4
def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SHFM4" EXACT [DOID:0090023, MONDO:Lexical, OMIM:605289]
synonym: "split hand-foot malformation caused by mutation in TP63" EXACT [MONDO:design_pattern]
synonym: "split hand-foot malformation type 4" EXACT [DOID:0090023, MONDORULE:1]
synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical, OMIM:605289]
synonym: "split-hand/foot malformation 4; SHFM4" RELATED [OMIM:605289]
synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1, OMIM:605289]
synonym: "TP63 split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090023 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090023"}
xref: MESH:C565344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605289 {source="DOID:0090023", source="MONDO:equivalentTo"}
is_a: MONDO:0016576 {source="DOID:0090023", source="MONDO:Redundant", source="OMIM:605289"} ! split hand-foot malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854442
property_value: exactMatch DOID:0090023
property_value: exactMatch http://identifiers.org/mesh/C565344
property_value: exactMatch http://identifiers.org/omim/605289

[Term]
id: MONDO:0011536
name: optic atrophy 4
synonym: "OPA4" EXACT [MONDO:Lexical, OMIM:605293]
synonym: "optic atrophy 4" RELATED [MONDO:Lexical, OMIM:605293]
synonym: "optic atrophy 4; OPA4" RELATED [OMIM:605293]
xref: MESH:C565343 {source="MONDO:equivalentTo"}
xref: OMIM:605293 {source="MONDO:equivalentTo"}
xref: UMLS:C1854430 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605293"}
is_a: MONDO:0003608 {source="MESH:C565343/inferred", source="MONDO:Redundant", source="OMIM:605293", source="indirect"} ! optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C565343
property_value: exactMatch http://identifiers.org/omim/605293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854430

[Term]
id: MONDO:0011537
name: macrocephaly-autism syndrome
def: "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23." [DOID:0060867, PMID:15805158, PMID:1719811]
subset: ordo_disease {source="Orphanet:210548"}
synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867]
synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309]
xref: DOID:0060867 {source="MONDO:equivalentTo"}
xref: MESH:C565342 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605309 {source="MONDO:equivalentTo", source="ORDO:210548/e", source="DOID:0060867", source="Orphanet:210548"}
xref: Orphanet:210548 {source="MONDO:equivalentTo", source="OMIM:605309", source="DOID:0060867"}
xref: UMLS:C1854416 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605309", source="MEDGEN:kboom-pr92-c96", source="Orphanet:210548"}
is_a: MONDO:0000426 {source="DOID:0060867", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0017120 {source="Orphanet:210548"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060867
property_value: exactMatch http://identifiers.org/mesh/C565342
property_value: exactMatch http://identifiers.org/omim/605309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854416
property_value: exactMatch Orphanet:210548

[Term]
id: MONDO:0011538
name: frontoocular syndrome
synonym: "frontoocular syndrome" EXACT [OMIM:605321]
xref: MESH:C565340 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605321 {source="MONDO:equivalentTo"}
xref: UMLS:C1854405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605321"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565340
property_value: exactMatch http://identifiers.org/omim/605321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854405

[Term]
id: MONDO:0011539
name: nemaline myopathy 5
def: "Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community." [Orphanet:98902]
subset: ordo_disease {source="Orphanet:98902"}
synonym: "Amish nemaline myopathy" EXACT [DOID:0110936]
synonym: "ANM" EXACT [DOID:0110936]
synonym: "NEM5" EXACT [DOID:0110936, MONDO:Lexical, OMIM:605355]
synonym: "nemaline myopathy 5" EXACT [MONDO:Lexical, OMIM:605355]
synonym: "nemaline myopathy 5, Amish type" EXACT [DOID:0110936]
synonym: "nemaline myopathy 5; NEM5" RELATED [OMIM:605355]
synonym: "nemaline myopathy caused by mutation in TNNT1" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 5" EXACT [DOID:0110936, MONDORULE:1, OMIM:605355]
synonym: "nemaline myopathy, Amish type" RELATED [OMIM:605355]
synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334]
synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110936 {source="MONDO:equivalentTo"}
xref: GARD:0008334 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:98902/attributed", source="ORDO:98902/ntbt", source="Orphanet:98902"}
xref: MESH:C538397 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605355 {source="ORDO:98902/e", source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902"}
xref: Orphanet:98902 {source="MONDO:equivalentTo"}
xref: UMLS:C1854380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:605355"}
is_a: MONDO:0017302 {source="Orphanet:98902"} ! qualitative or quantitative defects of troponin
is_a: MONDO:0018701 {source="Orphanet:98902"} ! congenital nemaline myopathy
is_a: MONDO:0018958 {source="DC-OMIM:605355", source="DOID:0110936", source="MESH:C538397", source="MONDO:Redundant", source="OMIM:605355", source="Orphanet:98902"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0110936
property_value: exactMatch http://identifiers.org/mesh/C538397
property_value: exactMatch http://identifiers.org/omim/605355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854380
property_value: exactMatch Orphanet:98902

[Term]
id: MONDO:0011540
name: spinocerebellar ataxia type 14
def: "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." [Orphanet:98763]
subset: ordo_disease {source="Orphanet:98763"}
synonym: "SCA14" EXACT [MONDO:Lexical, OMIM:605361, Orphanet:98763]
synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361]
synonym: "spinocerebellar ataxia 14; SCA14" RELATED [OMIM:605361]
synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361]
xref: DOID:0050964 {source="MONDO:equivalentTo"}
xref: GARD:0009867 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:98763", source="ORDO:98763/attributed", source="ORDO:98763/ntbt"}
xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="ORDO:98763/e"}
xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="ORDO:98763/e"}
xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"}
xref: SCTID:719210007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1854369 {source="Orphanet:98763", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605361", source="ORDO:98763/e"}
xref: UMLS:C4304883 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98763"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050964
property_value: exactMatch http://identifiers.org/mesh/C537196
property_value: exactMatch http://identifiers.org/omim/605361
property_value: exactMatch http://identifiers.org/snomedct/719210007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304883
property_value: exactMatch Orphanet:98763

[Term]
id: MONDO:0011541
name: dilated cardiomyopathy 1J
def: "Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." [Orphanet:217622]
subset: ordo_disease {source="Orphanet:217622"}
synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [DOID:0110440]
synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical, OMIM:605362]
synonym: "cardiomyopathy, dilated, 1J; CMD1J" RELATED [OMIM:605362]
synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4, OMIM:605362]
synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [OMIM:605362]
synonym: "CMD1J" EXACT [DOID:0110440, MONDO:Lexical, OMIM:605362]
synonym: "dilated cardiomyopathy type 1J" EXACT [DOID:0110440, MONDORULE:4]
synonym: "EYA4 familial dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial dilated cardiomyopathy caused by mutation in EYA4" EXACT [MONDO:design_pattern]
synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440]
synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
xref: DOID:0110440 {source="MONDO:equivalentTo"}
xref: MESH:C565337 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="DOID:0110440", source="ORDO:217622/e"}
xref: Orphanet:217622 {source="MONDO:equivalentTo", source="DOID:0110440", source="OMIM:605362"}
xref: UMLS:C1854368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605362"}
is_a: MONDO:0016337 {source="Orphanet:217622"} ! syndrome associated with dilated cardiomyopathy
property_value: exactMatch DOID:0110440
property_value: exactMatch http://identifiers.org/mesh/C565337
property_value: exactMatch http://identifiers.org/omim/605362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854368
property_value: exactMatch Orphanet:217622

[Term]
id: MONDO:0011542
name: PSORS6
synonym: "psoriasis 6, susceptibility to" RELATED [MONDO:Lexical, OMIM:605364]
synonym: "psoriasis 6, susceptibility to; PSORS6" RELATED [OMIM:605364]
synonym: "PSORS6" EXACT [MONDO:Lexical, OMIM:605364]
xref: OMIM:605364 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:605364", source="OMIM:605364"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854366
property_value: exactMatch http://identifiers.org/omim/605364

[Term]
id: MONDO:0011543
name: obsolete BRCA3
comment: See https://omim.org/entry/114480
synonym: "BRCA3" EXACT [MONDO:Lexical, OMIM:605365]
synonym: "Brcax" RELATED [OMIM:605365]
synonym: "breast cancer 3" RELATED [MONDO:Lexical, OMIM:605365]
synonym: "breast cancer 3; BRCA3" RELATED [OMIM:605365]
synonym: "moved to 114480" RELATED [OMIM:605365]
xref: MESH:C565336 {source="MONDO:equivalentTo"}
xref: OMIM:605365 {source="MONDO:equivalentTo"}
xref: UMLS:C1854365 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605365"}
property_value: exactMatch http://identifiers.org/mesh/C565336
property_value: exactMatch http://identifiers.org/omim/605365
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854365
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1700 xsd:string
is_obsolete: true
consider: MONDO:0016419

[Term]
id: MONDO:0011544
name: paragangliomas 3
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010545"}
synonym: "glomus tumors, familial, 3" RELATED [OMIM:605373]
synonym: "paraganglioma caused by mutation in SDHC" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 3" EXACT [MONDO:Lexical, OMIM:605373]
synonym: "paragangliomas 3; PGL3" RELATED [OMIM:605373]
synonym: "paragangliomas type 3" EXACT [MONDORULE:1, OMIM:605373]
synonym: "PGL3" RELATED [MONDO:Lexical, OMIM:605373]
synonym: "SDHC paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)" RELATED [GARD:0010545]
xref: GARD:0010545 {source="MONDO:equivalentTo"}
xref: OMIM:605373 {source="MONDO:equivalentTo"}
xref: UMLS:C1854336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605373"}
is_a: MONDO:0000448 {source="DC-OMIM:605373", source="MONDO:Redundant", source="OMIM:605373"} ! paraganglioma
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/605373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854336
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3 xsd:anyURI {source="GARD:0010545"}

[Term]
id: MONDO:0011545
name: autosomal dominant nocturnal frontal lobe epilepsy 3
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [DOID:0060684, MONDORULE:1]
synonym: "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ENFL3" EXACT [DOID:0060684, MONDO:Lexical, OMIM:605375]
synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical, OMIM:605375]
synonym: "epilepsy, nocturnal frontal lobe, 3; ENFL3" RELATED [OMIM:605375]
synonym: "epilepsy, nocturnal frontal lobe, type 3" EXACT [MONDORULE:1, OMIM:605375]
synonym: "nocturnal frontal lobe epilepsy 3" EXACT [DOID:0060684]
xref: DOID:0060684 {source="MONDO:equivalentTo"}
xref: MESH:C565334 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605375 {source="DOID:0060684", source="MONDO:equivalentTo"}
xref: UMLS:C1854335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605375"}
is_a: MONDO:0000030 {source="DC-OMIM:605375", source="OMIM:605375"} ! epilepsy, nocturnal frontal lobe
is_a: MONDO:0020300 {source="DOID:0060684", source="MONDO:Redundant", source="MONDOLEX:0011545"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: exactMatch DOID:0060684
property_value: exactMatch http://identifiers.org/mesh/C565334
property_value: exactMatch http://identifiers.org/omim/605375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854335

[Term]
id: MONDO:0011546
name: heterotaxy, visceral, 2, autosomal
synonym: "heterotaxy, visceral, 2, autosomal" EXACT [MONDO:Lexical, OMIM:605376]
synonym: "heterotaxy, visceral, 2, autosomal; HTX2" RELATED [OMIM:605376]
synonym: "Htx" RELATED [OMIM:605376]
synonym: "HTX2" RELATED [MONDO:Lexical, OMIM:605376]
synonym: "transposition of the great arteries, dextro-looped 2; DTGA2" EXACT [OMIM:605376]
xref: OMIM:605376 {source="MONDO:equivalentTo"}
xref: UMLS:C1415817 {source="MONDO:equivalentTo", source="OMIM:605376"}
is_a: MONDO:0000153 {source="DC-OMIM:605376"} ! transposition of the great arteries
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:605376", source="MONDOLEX:0011546", source="OMIM:605376"} ! visceral heterotaxy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854334
property_value: exactMatch http://identifiers.org/omim/605376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1415817

[Term]
id: MONDO:0011547
name: cataract 31 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 31, multiple types" RELATED [MONDO:Lexical, OMIM:605387]
synonym: "cataract 31, multiple types; CTRCT31" RELATED [OMIM:605387]
synonym: "cataract, posterior polar, 3" RELATED [OMIM:605387]
synonym: "CHMP4B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CPP3" NARROW [DOID:0110265]
synonym: "CTPP3" NARROW [DOID:0110265]
synonym: "CTRCT31" EXACT [DOID:0110265, MONDO:Lexical, OMIM:605387]
synonym: "early-onset non-syndromic cataract caused by mutation in CHMP4B" EXACT [MONDO:design_pattern]
synonym: "posterior polar cataract 3" NARROW [DOID:0110265]
xref: DOID:0110265 {source="MONDO:equivalentTo"}
xref: GARD:0010227 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.0 {source="DOID:0110265"}
xref: MESH:C535343 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605387 {source="MONDO:equivalentTo", source="DOID:0110265"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854311
property_value: exactMatch DOID:0110265
property_value: exactMatch http://identifiers.org/mesh/C535343
property_value: exactMatch http://identifiers.org/omim/605387

[Term]
id: MONDO:0011548
name: cerebral palsy, ataxic, autosomal recessive
subset: gard_rare
synonym: "Acp" RELATED [OMIM:605388]
synonym: "ataxic cerebral palsy" RELATED [GARD:0010451, OMIM:605388]
synonym: "cerebral palsy ataxic" RELATED [GARD:0010451]
synonym: "cerebral palsy, ataxic, autosomal recessive" EXACT [OMIM:605388]
xref: GARD:0010451 {source="MONDO:equivalentTo"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:605388 {source="GARD:0010451", source="MONDO:equivalentTo"}
is_a: MONDO:0000397 ! ataxic cerebral palsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3496054
property_value: exactMatch http://identifiers.org/omim/605388
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic xsd:anyURI {source="GARD:0010451"}

[Term]
id: MONDO:0011549
name: hypotrichosis 1
def: "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "APCDD1 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary generalized hypotrichosis simplex" EXACT [DOID:0110698]
synonym: "HHS" BROAD [DOID:0110698]
synonym: "HTS" EXACT [DOID:0110698, OMIM:605389]
synonym: "hypotrichosis 1" EXACT [MONDO:Lexical, OMIM:605389]
synonym: "hypotrichosis 1; HYPT1" RELATED [OMIM:605389]
synonym: "hypotrichosis caused by mutation in APCDD1" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex, generalized, hereditary" RELATED [OMIM:605389]
synonym: "hypotrichosis type 1" EXACT [DOID:0110698, MONDORULE:1, OMIM:605389]
synonym: "HYPT1" EXACT [DOID:0110698, MONDO:Lexical, OMIM:605389]
xref: DOID:0110698 {source="MONDO:equivalentTo"}
xref: OMIM:605389 {source="DOID:0110698", source="MONDO:equivalentTo"}
is_a: MONDO:0018914 ! hypotrichosis simplex
property_value: exactMatch DOID:0110698
property_value: exactMatch http://identifiers.org/omim/605389

[Term]
id: MONDO:0011550
name: fibromatosis, gingival, with hypertrichosis and mental retardation
synonym: "fibromatosis, gingival, with hypertrichosis and mental retardation" EXACT [OMIM:605400]
xref: MESH:C565331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605400 {source="MONDO:equivalentTo"}
xref: UMLS:C1854306 {source="OMIM:605400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565331
property_value: exactMatch http://identifiers.org/omim/605400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854306

[Term]
id: MONDO:0011551
name: TH-deficient dopa-responsive dystonia
def: "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." [Orphanet:101150]
subset: ordo_disease {source="Orphanet:101150"}
synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "autosomal recessive Segawa syndrome" EXACT [Orphanet:101150]
synonym: "DOPA responsive dystonia, autosomal recessive" RELATED [GARD:0001902]
synonym: "Dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "Dopa-responsive dystonia, autosomal recessive" RELATED [OMIM:605407]
synonym: "dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "dystonia, DOPA responsive, autosomal recessive" RELATED [GARD:0001902]
synonym: "dystonia, Dopa-responsive, autosomal recessive" RELATED [OMIM:605407]
synonym: "DYT5b" EXACT [Orphanet:101150]
synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [OMIM:605407]
synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407]
synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150]
xref: GARD:0001902 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="ORDO:101150/attributed", source="ORDO:101150/ntbt", source="Orphanet:101150"}
xref: OMIM:605407 {source="MONDO:equivalentTo", source="ORDO:101150/e", source="Orphanet:101150"}
xref: Orphanet:101150 {source="MONDO:equivalentTo", source="OMIM:605407"}
xref: SCTID:715827001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.65"}
xref: UMLS:C2673535 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:605407", source="Orphanet:101150"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal recessive disease
is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:101150", source="linkedlifedata"} ! dopa-responsive dystonia
is_a: MONDO:0017307 {source="Orphanet:101150"} ! disorder of tyrosine metabolism
is_a: MONDO:0017756 {source="Orphanet:101150"} ! disorder of pterin metabolism
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0100064 {source="https://orcid.org/0000-0002-5655-9589"} ! tyrosine hydroxylase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854299
property_value: exactMatch http://identifiers.org/omim/605407
property_value: exactMatch http://identifiers.org/snomedct/715827001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673535
property_value: exactMatch Orphanet:101150

[Term]
id: MONDO:0011552
name: SCZD10
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15." [DOID:0070086]
synonym: "catatonia, periodic" RELATED [OMIM:605419]
synonym: "schizophrenia 10" RELATED [MONDO:Lexical, OMIM:605419]
synonym: "schizophrenia 10; SCZD10" RELATED [OMIM:605419]
synonym: "schizophrenia susceptibility locus, chromosome 15Q15-related" RELATED [OMIM:605419]
synonym: "SCZD10" EXACT [DOID:0070086, MONDO:Lexical, OMIM:605419]
xref: DOID:0070086 {source="MONDO:equivalentTo"}
xref: MESH:D012560 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605419 {source="DOID:0070086", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:605419", source="DOID:0070086"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543918
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1424914
property_value: exactMatch DOID:0070086
property_value: exactMatch http://identifiers.org/mesh/D012560
property_value: exactMatch http://identifiers.org/omim/605419

[Term]
id: MONDO:0011553
name: autosomal recessive nonsyndromic deafness 26
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31." [DOID:0110484, PMID:11101839]
synonym: "autosomal recessive deafness 26" EXACT [DOID:0110484]
synonym: "autosomal recessive nonsyndromic deafness type 26" EXACT [DOID:0110484, MONDORULE:2]
synonym: "deafness, autosomal recessive 26" RELATED [MONDO:Lexical, OMIM:605428]
synonym: "deafness, autosomal recessive 26; DFNB26" RELATED [OMIM:605428]
synonym: "DFNB26" EXACT [DOID:0110484, MONDO:Lexical, OMIM:605428]
xref: DOID:0110484 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110484"}
xref: MESH:C565329 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605428 {source="MONDO:equivalentTo", source="DOID:0110484"}
xref: UMLS:C1854275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605428"}
is_a: MONDO:0019588 {source="DC-OMIM:605428", source="DOID:0110484", source="OMIM:605428"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110484
property_value: exactMatch http://identifiers.org/mesh/C565329
property_value: exactMatch http://identifiers.org/omim/605428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854275

[Term]
id: MONDO:0011554
name: DFNM1
synonym: "deafness, autosomal recessive 26, modifier of" RELATED [OMIM:605429]
synonym: "deafness, autosomal recessive 26, modifier OF; DFNB26M" RELATED [OMIM:605429]
synonym: "deafness, nonsyndromic, modifier 1" RELATED [MONDO:Lexical, OMIM:605429]
synonym: "deafness, nonsyndromic, modifier 1; DFNM1" RELATED [OMIM:605429]
synonym: "deafness, nonsyndromic, modifier Of, 1" RELATED [OMIM:605429]
synonym: "Dfnb26, modifier of" RELATED [OMIM:605429]
synonym: "Dfnb26, suppressor of" RELATED [OMIM:605429]
synonym: "DFNB26M" RELATED [OMIM:605429]
synonym: "DFNM1" EXACT [MONDO:Lexical, OMIM:605429]
xref: OMIM:605429 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854274
property_value: exactMatch http://identifiers.org/omim/605429

[Term]
id: MONDO:0011555
name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
def: "gene (7p15)." [Orphanet:71289]
subset: ordo_malformation_syndrome {source="Orphanet:71289"}
synonym: "ATRUS syndrome" EXACT [Orphanet:71289]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432]
synonym: "RUSAT" RELATED [MONDO:Lexical, OMIM:605432]
xref: ICD10:Q87.2 {source="Orphanet:71289", source="ORDO:71289/attributed", source="ORDO:71289/ntbt"}
xref: MESH:C565328 {source="MONDO:equivalentTo"}
xref: OMIMPS:605432 {source="MONDO:equivalentTo"}
xref: Orphanet:71289 {source="MONDO:equivalentTo", source="OMIM:605432"}
xref: SCTID:721882001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.06"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0018795 {source="Orphanet:71289"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0019715 {source="Orphanet:71289"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch http://identifiers.org/mesh/C565328
property_value: exactMatch http://identifiers.org/snomedct/721882001
property_value: exactMatch Orphanet:71289

[Term]
id: MONDO:0011556
name: BCC1
subset: predisposition
synonym: "basal cell carcinoma, multiple" RELATED [OMIM:605462]
synonym: "basal cell carcinoma, nonsyndromic" RELATED [OMIM:605462]
synonym: "basal cell carcinoma, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:605462]
synonym: "basal cell carcinoma, susceptibility to, 1; BCC1" RELATED [OMIM:605462]
synonym: "BCC1" EXACT [MONDO:Lexical, OMIM:605462]
synonym: "multiple basal cell carcinoma" RELATED [GARD:0009303]
xref: GARD:0009303 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:605462 {source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DC-OMIM:605462", source="MONDOLEX:0011556"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854245
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751544
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751545
property_value: exactMatch http://identifiers.org/omim/605462

[Term]
id: MONDO:0011557
name: radiation sensitivity/chromosome instability syndrome, autosomal dominant
subset: n_of_one
synonym: "radiation sensitivity/chromosome instability syndrome, autosomal dominant" EXACT [OMIM:605463]
xref: MESH:C565326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605463 {source="MONDO:equivalentTo"}
xref: UMLS:C1854244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605463"}
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C565326
property_value: exactMatch http://identifiers.org/omim/605463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854244

[Term]
id: MONDO:0011558
name: Usher syndrome type 2C
def: "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." [OMIM:605472]
subset: gard_rare {source="GARD:0008497"}
synonym: "USH2C" EXACT [DOID:0110839, MONDO:Lexical, OMIM:605472]
synonym: "Usher syndrome type IIC" EXACT [DOID:0110839]
synonym: "Usher syndrome, type 2C" RELATED [GARD:0008497]
synonym: "Usher syndrome, type IIb" RELATED [OMIM:605472]
synonym: "Usher syndrome, type IIb, formerly" RELATED [OMIM:605472]
synonym: "USHER syndrome, type IIC" RELATED [MONDO:Lexical, OMIM:605472]
synonym: "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic" RELATED [OMIM:605472]
synonym: "USHER syndrome, type IIC; USH2C" RELATED [OMIM:605472]
xref: DOID:0110839 {source="MONDO:equivalentTo"}
xref: GARD:0008497 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110839"}
xref: MESH:C536492 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C153174 {source="MONDO:equivalentTo"}
xref: OMIM:605472 {source="MONDO:equivalentTo", source="DOID:0110839"}
is_a: MONDO:0016484 {source="DOID:0110839", source="MONDOLEX:0011558"} ! Usher syndrome type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854237
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676439
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931213
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3148929
property_value: exactMatch DOID:0110839
property_value: exactMatch http://identifiers.org/mesh/C536492
property_value: exactMatch http://identifiers.org/omim/605472
property_value: exactMatch NCIT:C153174
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c xsd:anyURI {source="GARD:0008497"}

[Term]
id: MONDO:0011559
name: benign recurrent intrahepatic cholestasis type 2
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:99961"}
synonym: "benign recurrent intrahepatic cholestasis 2" RELATED [GARD:0010029]
synonym: "Bric type 2" EXACT [DOID:0070232, Orphanet:99961]
synonym: "BRIC2" EXACT [DOID:0070232, GARD:0010029, MONDO:Lexical, OMIM:605479, Orphanet:99961]
synonym: "cholestasis, benign recurrent intrahepatic 2" RELATED [GARD:0010029]
synonym: "cholestasis, benign recurrent intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:605479]
synonym: "cholestasis, benign recurrent intrahepatic, 2; BRIC2" RELATED [OMIM:605479]
synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:605479]
synonym: "mild ABCB11 deficiency" RELATED [GARD:0010029]
synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029]
xref: DOID:0070232 {source="MONDO:equivalentTo"}
xref: GARD:0010029 {source="MONDO:equivalentTo"}
xref: GARD:10029 {source="DOID:0070232"}
xref: ICD10:K83.1 {source="Orphanet:99961", source="ORDO:99961/attributed", source="ORDO:99961/ntbt"}
xref: MESH:C535934 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605479 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:equivalentTo", source="GARD:0010029", source="ORDO:99961/e"}
xref: ORDO:99961 {source="DOID:0070232"}
xref: Orphanet:99961 {source="OMIM:605479", source="MONDO:equivalentTo"}
is_a: MONDO:0019008 {source="DOID:0070232", source="OMIM:605479", source="Orphanet:99961"} ! benign recurrent intrahepatic cholestasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3489789
property_value: exactMatch DOID:0070232
property_value: exactMatch http://identifiers.org/mesh/C535931
property_value: exactMatch http://identifiers.org/mesh/C535934
property_value: exactMatch http://identifiers.org/omim/605479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2608083
property_value: exactMatch Orphanet:99961
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 xsd:anyURI {source="GARD:0010029"}

[Term]
id: MONDO:0011560
name: systemic lupus erythematosus, susceptibility to, 3
subset: predisposition
synonym: "SLEB3" EXACT [MONDO:Lexical, OMIM:605480]
synonym: "systemic lupus erythematosus, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:605480]
synonym: "systemic lupus erythematosus, susceptibility to, 3; SLEB3" EXACT [OMIM:605480]
xref: OMIM:605480 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854235
property_value: exactMatch http://identifiers.org/omim/605480

[Term]
id: MONDO:0011561
name: Alzheimer disease 6
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." [DOID:0110038, PMID:16385451]
synonym: "AD6" EXACT [DOID:0110038]
synonym: "AD6" RELATED [OMIM:605526]
synonym: "Alzheimer disease 6" EXACT [DOID:0110038, OMIM:605526]
synonym: "Alzheimer disease 6, late onset" EXACT [DOID:0110038]
synonym: "Alzheimer disease 6, late-onset" RELATED [OMIM:605526]
synonym: "Alzheimer disease type 6" EXACT [MONDORULE:1, OMIM:605526]
synonym: "Alzheimer's disease 6" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 6" EXACT [DOID:0110038, MONDORULE:1]
synonym: "plasma Beta-amyloid-42 level quantitative trait locus" RELATED [OMIM:605526]
xref: DOID:0110038 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110038"}
xref: MESH:C565325 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605526 {source="DOID:0110038", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854187
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676409
property_value: exactMatch DOID:0110038
property_value: exactMatch http://identifiers.org/mesh/C565325
property_value: exactMatch http://identifiers.org/omim/605526

[Term]
id: MONDO:0011562
name: autosomal dominant Parkinson disease 4
def: "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22." [DOID:0060895, PMID:14755720, PMID:17251522]
synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [DOID:0060895]
synonym: "autosomal dominant Parkinson disease type 4" EXACT [DOID:0060895, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 4" RELATED [DOID:0060895]
synonym: "PARK4" RELATED [MONDO:Lexical, OMIM:605543]
synonym: "Parkinson disease 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605543]
synonym: "Parkinson disease 4, autosomal dominant Lewy body" RELATED [OMIM:605543]
synonym: "Parkinson disease 4, autosomal dominant; PARK4" RELATED [OMIM:605543]
xref: DOID:0060895 {source="MONDO:equivalentTo"}
xref: ICD10:G20 {source="DOID:0060895"}
xref: MESH:C565324 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605543 {source="DOID:0060895", source="MONDO:equivalentTo"}
xref: UMLS:C1854182 {source="OMIM:605543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="DOID:0060895", source="Orphanet:411602"} ! hereditary late onset Parkinson disease
property_value: exactMatch DOID:0060895
property_value: exactMatch http://identifiers.org/mesh/C565324
property_value: exactMatch http://identifiers.org/omim/605543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854182

[Term]
id: MONDO:0011563
name: GINGF2
synonym: "fibromatosis gingival, hereditary, 2" RELATED [GARD:0002474]
synonym: "fibromatosis, gingival, 2" RELATED [MONDO:Lexical, OMIM:605544]
synonym: "fibromatosis, gingival, 2; GINGF2" RELATED [OMIM:605544]
synonym: "fibromatosis, gingival, hereditary, 2" RELATED [OMIM:605544]
synonym: "GGF2" RELATED [OMIM:605544]
synonym: "GINGF2" EXACT [MONDO:Lexical, OMIM:605544]
synonym: "gingival fibromatosis, 2" RELATED [GARD:0002474]
synonym: "hereditary gingival fibromatosis, 2" RELATED [GARD:0002474]
synonym: "HGF2" RELATED [GARD:0002474]
xref: GARD:0002474 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C565323 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605544 {source="MONDO:equivalentTo"}
is_a: MONDO:0016070 {source="DC-OMIM:605544", source="OMIM:605544"} ! hereditary gingival fibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854181
property_value: exactMatch http://identifiers.org/mesh/C565323
property_value: exactMatch http://identifiers.org/omim/605544

[Term]
id: MONDO:0011564
name: cone-rod dystrophy 8
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24." [DOID:0111014, PMID:11053266]
synonym: "cone-rod dystrophy 8" EXACT [MONDO:Lexical, OMIM:605549]
synonym: "cone-rod dystrophy 8; CORD8" RELATED [OMIM:605549]
synonym: "cone-rod dystrophy type 8" EXACT [DOID:0111014, MONDORULE:1]
synonym: "CORD8" EXACT [DOID:0111014, MONDO:Lexical, OMIM:605549]
xref: DOID:0111014 {source="MONDO:equivalentTo"}
xref: MESH:C565322 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605549 {source="MONDO:equivalentTo", source="DOID:0111014"}
xref: UMLS:C1854180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605549"}
is_a: MONDO:0015993 {source="DC-OMIM:605549", source="DOID:0111014"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111014
property_value: exactMatch http://identifiers.org/mesh/C565322
property_value: exactMatch http://identifiers.org/omim/605549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854180

[Term]
id: MONDO:0011565
name: metabolic syndrome X
synonym: "abdominal obesity metabolic syndrome" RELATED [GARD:0009226]
synonym: "abdominal obesity-metabolic syndrome 1" EXACT [DOID:14221, MONDO:Lexical, OMIM:605552]
synonym: "abdominal obesity-metabolic syndrome 1; AOMS1" RELATED [OMIM:605552]
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 1" RELATED [OMIM:605552]
synonym: "AOMS1" RELATED [MONDO:Lexical, OMIM:605552]
synonym: "dysmetabolic syndrome X" EXACT [CSP2005:5003-0027, DOID:14221]
synonym: "metabolic syndrome 10" RELATED [OMIM:605552]
synonym: "metabolic syndrome type X" EXACT [DOID:14221, MONDORULE:1]
synonym: "metabolic syndrome, protection against" RELATED [OMIM:605552]
xref: COHD:436940 {source="MONDO:equivalentTo"}
xref: DOID:14221 {source="MONDO:equivalentTo"}
xref: GARD:0009226 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E88.81 {source="MONDO:subClassOf", source="DOID:14221"}
xref: ICD9:277.7 {source="MONDO:equivalentTo", source="DOID:14221", source="i2s"}
xref: MESH:D024821 {source="MONDO:equivalentTo", source="DOID:14221", source="MONDO:ontobio"}
xref: OMIM:605552 {source="MONDO:equivalentTo", source="DOID:14221"}
xref: SCTID:237602007 {source="MONDO:equivalentTo", source="DOID:14221", source="MONDO:kboom-pr-0.96/0.76/2.27"}
xref: UMLS:C0524620 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14221", source="OMIM:605552"}
is_a: MONDO:0000816 {source="DC-OMIM:605552", source="DOID:14221", source="OMIM:605552"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0004955 {source="MONDOLEX:0011565"} ! metabolic syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://identifiers.org/snomedct/190394009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854178
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970051
property_value: exactMatch DOID:14221
property_value: exactMatch http://identifiers.org/mesh/D024821
property_value: exactMatch http://identifiers.org/omim/605552
property_value: exactMatch http://identifiers.org/snomedct/237602007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524620

[Term]
id: MONDO:0011566
name: abdominal obesity-metabolic syndrome quantitative trait locus 2
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 2" EXACT [OMIM:605572]
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus type 2" EXACT [MONDORULE:1, OMIM:605572]
synonym: "Aoms2" RELATED [OMIM:605572]
xref: OMIM:605572 {source="MONDO:equivalentTo"}
is_a: MONDO:0000816 {source="DC-OMIM:605572", source="OMIM:605572"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="MONDO:Redundant", source="indirect"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854170
property_value: exactMatch http://identifiers.org/omim/605572

[Term]
id: MONDO:0011567
name: dilated cardiomyopathy 1K
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16." [DOID:0110437, PMID:11085912]
synonym: "cardiomyopathy, dilated, 1K" RELATED [MONDO:Lexical, OMIM:605582]
synonym: "cardiomyopathy, dilated, 1K; CMD1K" RELATED [OMIM:605582]
synonym: "CMD1K" EXACT [DOID:0110437, MONDO:Lexical, OMIM:605582]
synonym: "dilated cardiomyopathy type 1K" EXACT [DOID:0110437, MONDORULE:4]
xref: DOID:0110437 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110437"}
xref: MESH:C565320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605582 {source="DOID:0110437", source="MONDO:equivalentTo"}
xref: UMLS:C1854159 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605582"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110437
property_value: exactMatch http://identifiers.org/mesh/C565320
property_value: exactMatch http://identifiers.org/omim/605582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854159

[Term]
id: MONDO:0011568
name: autosomal dominant nonsyndromic deafness 25
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 25" EXACT [DOID:0110555]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 25" EXACT [DOID:0110555, MONDORULE:2]
synonym: "deafness, autosomal dominant 25" RELATED [MONDO:Lexical, OMIM:605583]
synonym: "deafness, autosomal dominant 25; DFNA25" RELATED [OMIM:605583]
synonym: "deafness, autosomal dominant type 25" EXACT [MONDORULE:2, OMIM:605583]
synonym: "DFNA25" EXACT [DOID:0110555, MONDO:Lexical, OMIM:605583]
synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110555 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110555"}
xref: MESH:C565319 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605583 {source="DOID:0110555", source="MONDO:equivalentTo"}
xref: UMLS:C1854158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605583"}
is_a: MONDO:0019587 {source="DC-OMIM:605583", source="DOID:0110555", source="MONDO:Redundant", source="OMIM:605583"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110555
property_value: exactMatch http://identifiers.org/mesh/C565319
property_value: exactMatch http://identifiers.org/omim/605583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854158

[Term]
id: MONDO:0011569
name: Charcot-Marie-Tooth disease type 2B1
def: "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:98856]
subset: gard_rare {source="GARD:0008548"}
subset: ordo_disease {source="Orphanet:98856"}
synonym: "AR-CMT2B1" EXACT [Orphanet:98856]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156]
synonym: "autosomal recessive axonal CMT4C1" EXACT [DOID:0110156, Orphanet:98856]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156, Orphanet:98856]
synonym: "Charcot Marie Tooth disease type 2B1" RELATED [GARD:0008548]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [DOID:0110156]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical, OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1; CMT2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [DOID:0110156]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [OMIM:605588]
synonym: "CMT 2B1" RELATED [GARD:0008548]
synonym: "CMT2B1" EXACT [DOID:0110156, MONDO:Lexical, OMIM:605588]
synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110156 {source="MONDO:equivalentTo"}
xref: GARD:0008548 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:98856", source="ORDO:98856/attributed", source="ORDO:98856/ntbt", source="DOID:0110156"}
xref: MESH:C537990 {source="ORDO:98856/e", source="MONDO:equivalentTo", source="Orphanet:98856", source="MONDO:ontobio"}
xref: OMIM:605588 {source="ORDO:98856/e", source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156"}
xref: Orphanet:98856 {source="OMIM:605588", source="MONDO:equivalentTo", source="DOID:0110156"}
xref: SCTID:725048002 {source="MONDO:equivalentTo"}
xref: UMLS:C1854154 {source="OMIM:605588", source="MEDGEN:kboom-pr98-c99", source="ORDO:98856/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98856"}
is_a: MONDO:0018993 {source="DOID:0110156", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0011569", source="Orphanet:98856"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch DOID:0110156
property_value: exactMatch http://identifiers.org/mesh/C537990
property_value: exactMatch http://identifiers.org/omim/605588
property_value: exactMatch http://identifiers.org/snomedct/725048002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854154
property_value: exactMatch Orphanet:98856
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 xsd:anyURI {source="GARD:0008548"}

[Term]
id: MONDO:0011570
name: Charcot-Marie-Tooth disease type 2B2
def: "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." [Orphanet:101101]
subset: gard_rare {source="GARD:0001249"}
subset: ordo_disease {source="Orphanet:101101"}
synonym: "AR-CMT2B2" EXACT [DOID:0110179, Orphanet:101101]
synonym: "ARCMT2B" EXACT [DOID:0110179]
synonym: "Arcmt2B" RELATED [OMIM:605589]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT [DOID:0110179, Orphanet:101101]
synonym: "autosomal recessive axonal CMT4C3" EXACT [DOID:0110179, Orphanet:101101]
synonym: "Charcot Marie Tooth disease type 2B2" RELATED [GARD:0001249]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [DOID:0110179]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" RELATED [GARD:0001249]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical, OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2; CMT2B2" RELATED [OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B2" RELATED [OMIM:605589]
synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [DOID:0110179]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [OMIM:605589]
synonym: "CMT 2B2" RELATED [GARD:0001249]
synonym: "CMT2B2" EXACT [DOID:0110179, MONDO:Lexical, OMIM:605589]
synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110179 {source="MONDO:equivalentTo"}
xref: GARD:0001249 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:101101", source="ORDO:101101/attributed", source="ORDO:101101/ntbt", source="DOID:0110179"}
xref: MESH:C537991 {source="ORDO:101101/e", source="Orphanet:101101", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605589 {source="ORDO:101101/e", source="Orphanet:101101", source="MONDO:equivalentTo", source="DOID:0110179"}
xref: Orphanet:101101 {source="OMIM:605589", source="MONDO:equivalentTo", source="DOID:0110179"}
xref: SCTID:719981005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1854150 {source="ORDO:101101/e", source="OMIM:605589", source="Orphanet:101101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110179", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0011570", source="Orphanet:101101"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110179
property_value: exactMatch http://identifiers.org/mesh/C537991
property_value: exactMatch http://identifiers.org/omim/605589
property_value: exactMatch http://identifiers.org/snomedct/719981005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854150
property_value: exactMatch Orphanet:101101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 xsd:anyURI {source="GARD:0001249"}

[Term]
id: MONDO:0011571
name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" EXACT [OMIM:605594]
synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:605594]
synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [OMIM:605594]
synonym: "Dfna39/Dgi1 syndrome" RELATED [OMIM:605594]
synonym: "Dgi1/Dfna39 syndrome" RELATED [OMIM:605594]
xref: MESH:C565316 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605594 {source="MONDO:equivalentTo"}
xref: UMLS:C1854146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605594"}
is_a: MONDO:0007441 {source="MONDOLEX:0011571", source="ORDO:166260/btnt"} ! dentinogenesis imperfecta type 2
property_value: exactMatch http://identifiers.org/mesh/C565316
property_value: exactMatch http://identifiers.org/omim/605594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854146

[Term]
id: MONDO:0011572
name: type 1 diabetes mellitus 18
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1." [DOID:0110755, PMID:11175794]
synonym: "diabetes mellitus, insulin-dependent, 18" RELATED [MONDO:Lexical, OMIM:605598]
synonym: "diabetes mellitus, insulin-dependent, 18; IDDM18" RELATED [OMIM:605598]
synonym: "IDDM18" EXACT [DOID:0110755, MONDO:Lexical, OMIM:605598]
synonym: "insulin-dependent diabetes mellitus 18" EXACT [DOID:0110755, OMIM:605598]
xref: DOID:0110755 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110755"}
xref: MESH:C565315 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605598 {source="DOID:0110755", source="MONDO:equivalentTo"}
xref: UMLS:C1854125 {source="OMIM:605598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:605598", source="DOID:0110755", source="MESH:C565315", source="MONDOLEX:0011572"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110755
property_value: exactMatch http://identifiers.org/mesh/C565315
property_value: exactMatch http://identifiers.org/omim/605598
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854125

[Term]
id: MONDO:0011573
name: PSORS7
synonym: "psoriasis 7, susceptibility to" RELATED [MONDO:Lexical, OMIM:605606]
synonym: "psoriasis 7, susceptibility to; PSORS7" RELATED [OMIM:605606]
synonym: "PSORS7" EXACT [MONDO:Lexical, OMIM:605606]
xref: OMIM:605606 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:605606", source="OMIM:605606"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854124
property_value: exactMatch http://identifiers.org/omim/605606

[Term]
id: MONDO:0011574
name: tetralogy of fallot syndrome, autosomal recessive
synonym: "tetralogy of fallot syndrome, autosomal recessive" EXACT [OMIM:605618]
xref: MESH:C565314 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605618 {source="MONDO:equivalentTo"}
xref: UMLS:C1854119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605618"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565314
property_value: exactMatch http://identifiers.org/omim/605618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854119

[Term]
id: MONDO:0011575
name: cerebrooculonasal syndrome
def: "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." [Orphanet:66625]
subset: gard_rare {source="GARD:0003480"}
subset: ordo_malformation_syndrome {source="Orphanet:66625"}
synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627]
xref: GARD:0003480 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:66625", source="ORDO:66625/attributed", source="ORDO:66625/ntbt"}
xref: MESH:C565313 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605627 {source="ORDO:66625/e", source="Orphanet:66625", source="MONDO:equivalentTo"}
xref: Orphanet:66625 {source="MONDO:equivalentTo", source="OMIM:605627"}
xref: SCTID:720855003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1854108 {source="Orphanet:66625", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605627"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66625", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:66625"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017120 {source="Orphanet:66625"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C565313
property_value: exactMatch http://identifiers.org/omim/605627
property_value: exactMatch http://identifiers.org/snomedct/720855003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854108
property_value: exactMatch Orphanet:66625
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome xsd:anyURI {source="GARD:0003480"}

[Term]
id: MONDO:0011576
name: familial hyperaldosteronism type II
def: "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." [Orphanet:404]
subset: ordo_disease {source="Orphanet:404"}
synonym: "familial adrenal adenoma" EXACT [Orphanet:404]
synonym: "familial hyperaldosteronism type 2" EXACT [Orphanet:404]
synonym: "FH 2" RELATED [OMIM:605635]
synonym: "FH-II" EXACT [Orphanet:404]
synonym: "FH2" EXACT [Orphanet:404]
synonym: "FHII" RELATED [GARD:0002789]
synonym: "HALD2" RELATED [OMIM:605635]
synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635]
synonym: "hyperaldosteronism, familial, type II; HALD2" RELATED [OMIM:605635]
xref: GARD:0002789 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="Orphanet:404", source="ORDO:404/inclusion", source="ORDO:404/ntbt"}
xref: MESH:C565312 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605635 {source="ORDO:404/e", source="Orphanet:404", source="MONDO:equivalentTo"}
xref: Orphanet:404 {source="OMIM:605635", source="MONDO:equivalentTo"}
xref: SCTID:703233008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1854107 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:605635", source="Orphanet:404", source="MONDO:equivalentTo"}
xref: UMLS:C3839212 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015077 {source="Orphanet:404"} ! adrenal/paraganglial tumor
is_a: MONDO:0016525 {source="Orphanet:404", source="linkedlifedata"} ! familial hyperaldosteronism
is_a: MONDO:0036591 ! adrenal cortex neoplasm
property_value: exactMatch http://identifiers.org/mesh/C565312
property_value: exactMatch http://identifiers.org/omim/605635
property_value: exactMatch http://identifiers.org/snomedct/703233008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839212
property_value: exactMatch Orphanet:404

[Term]
id: MONDO:0011577
name: myopathy, proximal, and ophthalmoplegia
synonym: "inclusion body myopathy 3, autosomal dominant" RELATED [OMIM:605637]
synonym: "inclusion body myopathy 3, autosomal dominant, formerly" RELATED [OMIM:605637]
synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [OMIM:605637]
synonym: "myopathy, proximal, and ophthalmoplegia" EXACT [MONDO:Lexical, OMIM:605637]
synonym: "MYOPATHY, proximal, and ophthalmoplegia; MYPOP" RELATED [OMIM:605637]
synonym: "MYPOP" RELATED [MONDO:Lexical, OMIM:605637]
xref: MESH:C565311 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605637 {source="MONDO:equivalentTo"}
xref: UMLS:C1854106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605637"}
is_a: MONDO:0007827 {source="MESH:C565311", source="MONDOLEX:0011577"} ! inclusion body myositis
property_value: exactMatch http://identifiers.org/mesh/C565311
property_value: exactMatch http://identifiers.org/omim/605637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854106

[Term]
id: MONDO:0011578
name: familial papillary thyroid carcinoma with renal papillary neoplasia
def: "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)." [Orphanet:97290]
comment: Editor note: check MONDO:0000201 thyroid cancer, nonmedullary
subset: ordo_disease {source="Orphanet:97290"}
synonym: "Prn1" RELATED [OMIM:605642]
synonym: "ptc-RCC" EXACT [Orphanet:97290]
synonym: "Ptcprn" RELATED [OMIM:605642]
synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642]
xref: ICD10:C64 {source="ORDO:97290/attributed", source="ORDO:97290/ntbt", source="Orphanet:97290"}
xref: ICD10:C73 {source="ORDO:97290/attributed", source="ORDO:97290/ntbt", source="Orphanet:97290"}
xref: MESH:C565310 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605642 {source="ORDO:97290/e", source="MONDO:equivalentTo", source="Orphanet:97290"}
xref: Orphanet:97290 {source="OMIM:605642", source="MONDO:equivalentTo"}
xref: SCTID:717734005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C1854104 {source="OMIM:605642", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97290"}
is_a: MONDO:0005206 ! renal carcinoma
is_a: MONDO:0017891 {source="Orphanet:97290"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0017896 {source="Orphanet:97290"} ! familial nonmedullary thyroid carcinoma
property_value: exactMatch http://identifiers.org/mesh/C565310
property_value: exactMatch http://identifiers.org/omim/605642
property_value: exactMatch http://identifiers.org/snomedct/717734005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854104
property_value: exactMatch Orphanet:97290

[Term]
id: MONDO:0011579
name: late-onset retinal degeneration
def: "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." [Orphanet:67042]
subset: ordo_disease {source="Orphanet:67042"}
synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042]
synonym: "late-onset retinal degeneration" EXACT [MONDO:Lexical, OMIM:605670]
synonym: "late-onset retinal degeneration; LORD" RELATED [OMIM:605670]
synonym: "LORD" EXACT [DOID:0060869, MONDO:Lexical, OMIM:605670, Orphanet:67042]
synonym: "pigmentary retinopathy" RELATED [GARD:0004357]
synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:605670]
xref: DOID:0060869 {source="MONDO:equivalentTo"}
xref: GARD:0004357 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C565309 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605670 {source="MONDO:equivalentTo", source="ORDO:67042/e", source="Orphanet:67042", source="DOID:0060869"}
xref: Orphanet:67042 {source="MONDO:equivalentTo", source="OMIM:605670", source="DOID:0060869"}
xref: SCTID:719431007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1854065 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:67042", source="OMIM:605670"}
is_a: MONDO:0019118 {source="Orphanet:67042", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch DOID:0060869
property_value: exactMatch http://identifiers.org/mesh/C565309
property_value: exactMatch http://identifiers.org/omim/605670
property_value: exactMatch http://identifiers.org/snomedct/719431007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854065
property_value: exactMatch Orphanet:67042

[Term]
id: MONDO:0011580
name: cerebellar ataxia and hypergonadotropic hypogonadism
synonym: "cerebellar ataxia and hypergonadotropic hypogonadism" EXACT [OMIM:605672]
xref: MESH:C565308 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605672 {source="MONDO:equivalentTo"}
xref: UMLS:C1854064 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605672"}
is_a: MONDO:0008935 {source="ORDO:1173/btnt"} ! cerebellar ataxia-hypogonadism syndrome
property_value: exactMatch http://identifiers.org/mesh/C565308
property_value: exactMatch http://identifiers.org/omim/605672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854064

[Term]
id: MONDO:0011581
name: arrhythmogenic cardiomyopathy with woolly hair and keratoderma
def: "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." [https://clinicalgenome.org/affiliation/40003/]
subset: gard_rare {source="GARD:0005595"}
subset: ordo_disease {source="Orphanet:65282"}
synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED [GARD:0005595]
synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma" RELATED [MONDO:Lexical, OMIM:605676]
synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma; DCWHK" RELATED [OMIM:605676]
synonym: "Carvajal syndrome" EXACT [DOID:0090128, Orphanet:65282]
synonym: "DCWHK" EXACT [DOID:0090128, MONDO:Lexical, OMIM:605676]
synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT [https://www.clinicalgenome.org/affiliation/40003/]
synonym: "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy" RELATED [GARD:0005595]
synonym: "keratoderma with woolly hair type II" EXACT [Orphanet:65282]
synonym: "KWWH type II" EXACT [Orphanet:65282]
synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT [DOID:0090128, OMIM:605676]
synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED [GARD:0005595]
synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282]
synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED [GARD:0005595]
synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282]
synonym: "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282]
xref: DOID:0090128 {source="MONDO:equivalentTo"}
xref: GARD:0005595 {source="MONDO:equivalentTo"}
xref: MESH:C535581 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605676 {source="MONDO:equivalentTo", source="ORDO:65282/e", source="Orphanet:65282", source="DOID:0090128"}
xref: Orphanet:65282 {source="OMIM:605676", source="MONDO:equivalentTo"}
xref: SCTID:719835006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C1854063 {source="OMIM:605676", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:65282"}
is_a: MONDO:0016337 {source="Orphanet:65282"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0018558 {source="Orphanet:65282"} ! syndrome with woolly hair
is_a: MONDO:0019287 {source="Orphanet:65282"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020014 {source="Orphanet:65282"} ! rare disease with odontological manifestation
is_a: MONDO:0020097 {source="Orphanet:65282"} ! autosomal recessive disease with focal palmoplantar keratoderma as a major feature
is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
property_value: exactMatch DOID:0090128
property_value: exactMatch http://identifiers.org/mesh/C535581
property_value: exactMatch http://identifiers.org/omim/605676
property_value: exactMatch http://identifiers.org/snomedct/719835006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854063
property_value: exactMatch Orphanet:65282
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma xsd:anyURI {source="GARD:0005595"}

[Term]
id: MONDO:0011582
name: multiple mitochondrial dysfunctions syndrome 1
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:401869"}
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern]
synonym: "Mmds" BROAD [OMIM:605711]
synonym: "MMDS1" RELATED [MONDO:Lexical, OMIM:605711]
synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [MONDO:Lexical, OMIM:605711]
synonym: "multiple mitochondrial dysfunctions syndrome 1; MMDS1" RELATED [OMIM:605711]
synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:0080133, MONDORULE:1, OMIM:605711]
synonym: "NFU1 deficiency" EXACT [Orphanet:401869]
synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080133 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:401869/attributed", source="ORDO:401869/ntbt", source="Orphanet:401869"}
xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="ORDO:401869/e", source="Orphanet:401869"}
xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"}
xref: UMLS:C3276432 {source="OMIM:605711", source="MONDO:equivalentTo"}
xref: UMLS:CN226135 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854052
property_value: exactMatch DOID:0080133
property_value: exactMatch http://identifiers.org/omim/605711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226135
property_value: exactMatch Orphanet:401869

[Term]
id: MONDO:0011583
name: cerebral amyloid angiopathy, APP-related
def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3." [DOID:0070028]
synonym: "amyloidosis, Cerebroarterial, APP-related" EXACT [DOID:0070028]
synonym: "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant" RELATED [DOID:0070028]
synonym: "APP-related cerebral amyloid angiopathy" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related" EXACT [OMIM:605714]
synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" RELATED [DOID:0070028, OMIM:605714]
synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" RELATED [DOID:0070028, OMIM:605714]
synonym: "HCHWAD" EXACT [DOID:0070028]
xref: DOID:0070028 {source="MONDO:equivalentTo"}
xref: OMIM:605714 {source="MONDO:equivalentTo", source="DOID:0070028"}
xref: UMLS:C2751494 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C2751536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605714"}
xref: UMLS:C3888307 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3888308 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C3888309 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005620 {source="DC-OMIM:605714", source="DOID:0070028"} ! cerebral amyloid angiopathy
property_value: exactMatch DOID:0070028
property_value: exactMatch http://identifiers.org/omim/605714
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888309

[Term]
id: MONDO:0011584
name: Fanconi anemia complementation group D1
def: "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." [Orphanet:319462]
subset: ordo_disease {source="Orphanet:319462"}
synonym: "FAD1" EXACT [DOID:0111089]
synonym: "Fad1" RELATED [OMIM:605724]
synonym: "FANCD1" EXACT [DOID:0111089, MONDO:Lexical, OMIM:605724]
synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical, OMIM:605724]
synonym: "Fanconi anemia, complementation group D1; FANCD1" RELATED [OMIM:605724]
synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [Orphanet:319462]
xref: DOID:0111089 {source="MONDO:equivalentTo"}
xref: MESH:C563980 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125705 {source="MONDO:equivalentTo"}
xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="ORDO:319462/e", source="DOID:0111089"}
xref: Orphanet:319462 {source="OMIM:605724", source="MONDO:equivalentTo"}
xref: SCTID:766707003 {source="MONDO:equivalentTo"}
xref: UMLS:C1838457 {source="NCIT:C125705", source="OMIM:605724", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017891 {source="Orphanet:319462"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0019391 {source="DC-OMIM:605724", source="DOID:0111089", source="MESH:C563980", source="NCIT:C125705", source="OMIM:605724"} ! Fanconi anemia
property_value: exactMatch DOID:0111089
property_value: exactMatch http://identifiers.org/mesh/C563980
property_value: exactMatch http://identifiers.org/omim/605724
property_value: exactMatch http://identifiers.org/snomedct/766707003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838457
property_value: exactMatch NCIT:C125705
property_value: exactMatch Orphanet:319462

[Term]
id: MONDO:0011585
name: autosomal recessive distal spinal muscular atrophy 2
def: "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." [Orphanet:139552]
subset: ordo_disease {source="Orphanet:139552"}
synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [DOID:0111065, MONDORULE:1, Orphanet:139552]
synonym: "dHMNJ" EXACT [DOID:0111065, Orphanet:139552]
synonym: "distal hereditary motor neuropathy Jerash type" EXACT [DOID:0111065]
synonym: "distal hereditary motor neuropathy, Jerash type" RELATED [Orphanet:139552]
synonym: "DSMA2" EXACT [DOID:0111065]
synonym: "DSMA2" RELATED [MONDO:Lexical, OMIM:605726]
synonym: "hereditary motor neuropathy, Jerash type" RELATED [GARD:0010133]
synonym: "HMNJ" RELATED [GARD:0010133]
synonym: "MNDJ" RELATED [GARD:0010133]
synonym: "motor neuropathy, distal, Jerash type" RELATED [GARD:0010133]
synonym: "neuronopathy, distal hereditary motor, Jerash type" RELATED [OMIM:605726]
synonym: "neuropathy, distal hereditary motor, Jerash type" RELATED [GARD:0010133, OMIM:605726]
synonym: "spinal muscular atrophy Jerash type" EXACT [DOID:0111065]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:605726]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 2; DSMA2" RELATED [OMIM:605726]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:605726]
synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726]
xref: DOID:0111065 {source="MONDO:equivalentTo"}
xref: GARD:0010133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="DOID:0111065", source="Orphanet:139552", source="ORDO:139552/attributed", source="ORDO:139552/ntbt"}
xref: MESH:C535715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605726 {source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552", source="ORDO:139552/e"}
xref: Orphanet:139552 {source="MONDO:equivalentTo", source="OMIM:605726", source="DOID:0111065"}
xref: SCTID:763533003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="DC-OMIM:605726", source="DOID:0111065", source="MESH:C535715"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="MONDOLEX:0011585", source="Orphanet:139552"} ! autosomal recessive distal hereditary motor neuropathy
property_value: exactMatch DOID:0111065
property_value: exactMatch http://identifiers.org/mesh/C535715
property_value: exactMatch http://identifiers.org/omim/605726
property_value: exactMatch http://identifiers.org/snomedct/763533003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854023
property_value: exactMatch Orphanet:139552

[Term]
id: MONDO:0011586
name: OTSC2
synonym: "otosclerosis 2" RELATED [MONDO:Lexical, OMIM:605727]
synonym: "otosclerosis 2; OTSC2" RELATED [OMIM:605727]
synonym: "OTSC2" EXACT [MONDO:Lexical, OMIM:605727]
xref: MESH:C565302 {source="MONDO:equivalentTo"}
xref: OMIM:605727 {source="MONDO:equivalentTo"}
xref: UMLS:C1854022 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605727"}
is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C565302
property_value: exactMatch http://identifiers.org/omim/605727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854022

[Term]
id: MONDO:0011587
name: cataract 25
def: "A cataract that has_material_basis_in variation in the region 15q21-q22." [DOID:0110254, PMID:11133359]
synonym: "cataract 25" EXACT [MONDO:Lexical, OMIM:605728]
synonym: "cataract 25; CTRCT25" RELATED [OMIM:605728]
synonym: "cataract type 25" EXACT [DOID:0110254, MONDORULE:2]
synonym: "cataract, central pouch-like, with sutural opacities" RELATED [OMIM:605728]
synonym: "cataract, central saccular, with sutural opacities" RELATED [OMIM:605728]
synonym: "CCSSO" EXACT [DOID:0110254]
synonym: "central pouch-like cataract with sutural opacities" EXACT [DOID:0110254]
synonym: "central saccular cataract with sutural opacities" EXACT [DOID:0110254]
synonym: "CTRCT25" EXACT [DOID:0110254, MONDO:Lexical, OMIM:605728]
synonym: "early-onset cataract with Y-shaped suture opacities" EXACT EXCLUDE [DOID:0110254]
xref: DOID:0110254 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110254"}
xref: MESH:C565301 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605728 {source="MONDO:equivalentTo", source="DOID:0110254"}
is_a: MONDO:0020372 {source="ORDO:98985/btnt"} ! early-onset sutural cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854021
property_value: exactMatch DOID:0110254
property_value: exactMatch http://identifiers.org/mesh/C565301
property_value: exactMatch http://identifiers.org/omim/605728

[Term]
id: MONDO:0011588
name: platelet-type bleeding disorder 12
def: "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." [DOID:0111058, PMID:8562397]
synonym: "BDPLT12" EXACT [DOID:0111058, MONDO:Lexical, OMIM:605735]
synonym: "bleeding disorder, platelet-type, 12" RELATED [MONDO:Lexical, OMIM:605735]
synonym: "bleeding disorder, platelet-type, 12; BDPLT12" RELATED [OMIM:605735]
synonym: "PGHS1 deficiency" EXACT [DOID:0111058]
synonym: "platelet COX1 deficiency" EXACT [DOID:0111058]
synonym: "platelet cyclooxygenase 1 deficiency" EXACT [DOID:0111058]
synonym: "platelet prostaglandin-endoperoxide synthase 1 deficiency" EXACT [DOID:0111058]
synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" RELATED [OMIM:605735]
xref: DOID:0111058 {source="MONDO:equivalentTo"}
xref: MESH:C567786 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605735 {source="MONDO:equivalentTo", source="DOID:0111058"}
xref: UMLS:C2751535 {source="OMIM:605735", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="DC-OMIM:605735", source="MONDOLEX:0011588", source="OMIM:605735"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch DOID:0111058
property_value: exactMatch http://identifiers.org/mesh/C567786
property_value: exactMatch http://identifiers.org/omim/605735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751535

[Term]
id: MONDO:0011589
name: MCOPCB2
synonym: "MCOPCB2" EXACT [MONDO:Lexical, OMIM:605738]
synonym: "microphthalmia, colobomatous, isolated 2" RELATED [OMIM:605738]
synonym: "microphthalmia, isolated, with coloboma 2" RELATED [MONDO:Lexical, OMIM:605738]
synonym: "microphthalmia, isolated, with coloboma 2; MCOPCB2" RELATED [OMIM:605738]
xref: MESH:C565300 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605738 {source="MONDO:equivalentTo"}
xref: UMLS:C1854018 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605738"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C565300
property_value: exactMatch http://identifiers.org/omim/605738
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854018

[Term]
id: MONDO:0011590
name: anisomastia
synonym: "anisomastia" EXACT [OMIM:605746]
xref: MESH:C565299 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605746 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854013
property_value: exactMatch http://identifiers.org/mesh/C565299
property_value: exactMatch http://identifiers.org/omim/605746

[Term]
id: MONDO:0011591
name: cataract 26 multiple types
def: "A cataract that has_material_basis_in variation in the region 9q13-q22." [DOID:0110246, PMID:11179024]
synonym: "cataract 26, multiple types" RELATED [MONDO:Lexical, OMIM:605749]
synonym: "cataract 26, multiple types; CTRCT26" RELATED [OMIM:605749]
synonym: "cataract, autosomal recessive, early-onset, pulverulent" RELATED [OMIM:605749]
synonym: "CTRCT26" EXACT [DOID:0110246, MONDO:Lexical, OMIM:605749]
xref: DOID:0110246 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110246"}
xref: MESH:C565298 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605749 {source="MONDO:equivalentTo", source="DOID:0110246"}
xref: UMLS:C1854003 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605749"}
is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110246
property_value: exactMatch http://identifiers.org/mesh/C565298
property_value: exactMatch http://identifiers.org/omim/605749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854003

[Term]
id: MONDO:0011592
name: EVR3
synonym: "EVR3" EXACT [MONDO:Lexical, OMIM:605750]
synonym: "exudative vitreoretinopathy 3" RELATED [MONDO:Lexical, OMIM:605750]
synonym: "exudative vitreoretinopathy 3; EVR3" RELATED [OMIM:605750]
xref: MESH:C565297 {source="MONDO:equivalentTo"}
xref: OMIM:605750 {source="MONDO:equivalentTo"}
xref: UMLS:C1854002 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605750"}
is_a: MONDO:0019516 {source="DC-OMIM:605750", source="OMIM:605750"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/mesh/C565297
property_value: exactMatch http://identifiers.org/omim/605750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854002

[Term]
id: MONDO:0011593
name: seizures, benign familial infantile, 2
synonym: "BFIS2" RELATED [MONDO:Lexical, OMIM:605751]
synonym: "convulsions, benign familial infantile, 2" RELATED [OMIM:605751]
synonym: "seizures, benign familial infantile, 2" EXACT [MONDO:Lexical, OMIM:605751]
synonym: "seizures, benign familial infantile, 2; BFIS2" RELATED [OMIM:605751]
synonym: "seizures, benign familial infantile, type 2" EXACT [MONDORULE:1, OMIM:605751]
xref: MESH:C565296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605751 {source="MONDO:equivalentTo"}
xref: UMLS:C1853995 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605751"}
is_a: MONDO:0017615 {source="DC-OMIM:605751", source="OMIM:605751"} ! benign familial infantile epilepsy
property_value: exactMatch http://identifiers.org/mesh/C565296
property_value: exactMatch http://identifiers.org/omim/605751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853995

[Term]
id: MONDO:0011594
name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis
synonym: "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis" RELATED [OMIM:605756]
synonym: "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" EXACT [OMIM:605756]
xref: OMIM:605756 {source="MONDO:equivalentTo"}
xref: UMLS:C3148970 {source="NCBI:mim2gene_medline", source="OMIM:605756", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/605756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3148970

[Term]
id: MONDO:0011595
name: nonsyndromic congenital nail disorder 7
comment: Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49
subset: ordo_disease {source="Orphanet:79144"}
synonym: "COIF" EXACT [Orphanet:79144]
synonym: "COIF syndrome" EXACT [Orphanet:79144]
synonym: "congenital isolated nail dysplasia" RELATED [GARD:0009761]
synonym: "congenital onychodysplasia of the index fingers" EXACT [Orphanet:79144]
synonym: "Iso-Kikuchi syndrome" EXACT [Orphanet:79144]
synonym: "isolated congenital nail dysplasia" RELATED [GARD:0009761]
synonym: "isolated congenital onychodysplasia" RELATED [Orphanet:79144]
synonym: "nail disorder, nonsyndromic congenital, 7" RELATED [MONDO:Lexical, OMIM:605779]
synonym: "nail disorder, nonsyndromic congenital, 7; NDNC7" RELATED [OMIM:605779]
synonym: "nail dysplasia, isolated congenital" RELATED [GARD:0009761]
synonym: "NDNC7" RELATED [MONDO:Lexical, OMIM:605779]
synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MONDORULE:1]
synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779]
xref: DOID:0080085 {source="MONDO:equivalentTo"}
xref: GARD:0009761 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q84.6 {source="ORDO:79144/attributed", source="ORDO:79144/ntbt", source="Orphanet:79144"}
xref: MESH:C538333 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605779 {source="DOID:0080085", source="MONDO:equivalentTo", source="ORDO:79144/e", source="Orphanet:79144"}
xref: Orphanet:79144 {source="OMIM:605779", source="MONDO:equivalentTo"}
xref: SCTID:403281007 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C1853984 {source="OMIM:605779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79144", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019284 {source="DC-OMIM:605779", source="OMIM:605779", source="Orphanet:79144"} ! inherited isolated nail anomaly
property_value: exactMatch DOID:0080085
property_value: exactMatch http://identifiers.org/mesh/C538333
property_value: exactMatch http://identifiers.org/omim/605779
property_value: exactMatch http://identifiers.org/snomedct/403281007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853984
property_value: exactMatch Orphanet:79144

[Term]
id: MONDO:0011596
name: atopic dermatitis 2
def: "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATOD2" EXACT [DOID:0110098, MONDO:Lexical, OMIM:605803]
synonym: "atopic dermatitis type 2" EXACT [DOID:0110098, MONDORULE:1]
synonym: "atopic eczema caused by mutation in FLG" EXACT [MONDO:design_pattern]
synonym: "dermatitis, ATOPIC, 2" RELATED [MONDO:Lexical, OMIM:605803]
synonym: "dermatitis, ATOPIC, 2; ATOD2" RELATED [OMIM:605803]
synonym: "dermatitis, Atopic, type 2" EXACT [MONDORULE:1, OMIM:605803]
synonym: "FLG atopic eczema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110098 {source="MONDO:equivalentTo"}
xref: MESH:C565293 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605803 {source="MONDO:equivalentTo", source="DOID:0110098"}
xref: UMLS:C1853965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605803"}
is_a: MONDO:0004980 {source="DC-OMIM:605803", source="DOID:0110098", source="MONDO:Redundant", source="MONDOLEX:0011596", source="OMIM:605803"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110098
property_value: exactMatch http://identifiers.org/mesh/C565293
property_value: exactMatch http://identifiers.org/omim/605803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853965

[Term]
id: MONDO:0011597
name: atopic dermatitis 3
def: "An atopic dermatitis associated with variation in the region 20p." [DOID:0110099, PMID:11279517]
synonym: "ATOD3" EXACT [DOID:0110099, MONDO:Lexical, OMIM:605804]
synonym: "atopic dermatitis type 3" EXACT [DOID:0110099, MONDORULE:1]
synonym: "atopic dermatitis with asthma" EXACT [DOID:0110099]
synonym: "dermatitis, ATOPIC, 3" RELATED [MONDO:Lexical, OMIM:605804]
synonym: "dermatitis, ATOPIC, 3; ATOD3" RELATED [OMIM:605804]
synonym: "dermatitis, Atopic, with asthma" RELATED [OMIM:605804]
xref: DOID:0110099 {source="MONDO:equivalentTo"}
xref: MESH:C565292 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605804 {source="MONDO:equivalentTo", source="DOID:0110099"}
xref: UMLS:C1853964 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605804"}
is_a: MONDO:0004980 {source="DC-OMIM:605804", source="DOID:0110099", source="MONDOLEX:0011597", source="OMIM:605804"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110099
property_value: exactMatch http://identifiers.org/mesh/C565292
property_value: exactMatch http://identifiers.org/omim/605804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853964

[Term]
id: MONDO:0011598
name: atopic dermatitis 4
def: "An atopic dermatitis associated with variation in the region 17q25.3." [DOID:0110100, PMID:11279517]
synonym: "ATOD4" EXACT [DOID:0110100, MONDO:Lexical, OMIM:605805]
synonym: "atopic dermatitis type 4" EXACT [DOID:0110100, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 4" RELATED [MONDO:Lexical, OMIM:605805]
synonym: "dermatitis, ATOPIC, 4; ATOD4" RELATED [OMIM:605805]
xref: DOID:0110100 {source="MONDO:equivalentTo"}
xref: MESH:C565291 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605805 {source="MONDO:equivalentTo", source="DOID:0110100"}
xref: UMLS:C1853963 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605805"}
is_a: MONDO:0004980 {source="DC-OMIM:605805", source="DOID:0110100", source="MONDOLEX:0011598", source="OMIM:605805"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110100
property_value: exactMatch http://identifiers.org/mesh/C565291
property_value: exactMatch http://identifiers.org/omim/605805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853963

[Term]
id: MONDO:0011599
name: birdshot chorioretinopathy
def: "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." [Orphanet:179]
subset: gard_rare {source="GARD:0005926"}
subset: ordo_disease {source="Orphanet:179"}
synonym: "birdshot chorioretinitis" EXACT [DOID:0111079, Orphanet:179]
synonym: "birdshot chorioretinopathy" EXACT [OMIM:605808]
synonym: "birdshot retinochoroiditis" EXACT [DOID:0111079, Orphanet:179]
synonym: "birdshot retinochoroidopathy" EXACT [DOID:0111079, Orphanet:179]
synonym: "BSCR" EXACT [DOID:0111079]
synonym: "Bscr" RELATED [OMIM:605808]
synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926]
synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179]
xref: DOID:0111079 {source="MONDO:equivalentTo"}
xref: GARD:0005926 {source="MONDO:equivalentTo"}
xref: ICD10:H30.1 {source="DOID:0111079", source="ORDO:179/ntbt", source="Orphanet:179"}
xref: MESH:C537630 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0111079", source="ORDO:179/e", source="Orphanet:179"}
xref: OMIM:605808 {source="MONDO:equivalentTo", source="DOID:0111079", source="ORDO:179/e", source="Orphanet:179"}
xref: Orphanet:179 {source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808"}
xref: SCTID:231981005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0339402 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
xref: UMLS:C1853959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="DOID:0111079", source="OMIM:605808", source="ORDO:179/e", source="Orphanet:179"}
is_a: MONDO:0019541 {source="Orphanet:179"} ! non-infectious posterior uveitis
property_value: exactMatch DOID:0111079
property_value: exactMatch http://identifiers.org/mesh/C537630
property_value: exactMatch http://identifiers.org/omim/605808
property_value: exactMatch http://identifiers.org/snomedct/231981005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853959
property_value: exactMatch Orphanet:179
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy xsd:anyURI {source="GARD:0005926"}

[Term]
id: MONDO:0011600
name: congenital myasthenic syndrome 4A
def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." [DOID:0110678, PMID:12141316, PMID:25792100, PMID:7531341]
synonym: "CMS Ia1" EXACT [DOID:0110678]
synonym: "Cms Ia1" RELATED [OMIM:605809]
synonym: "Cms Ia1, formerly" RELATED [OMIM:605809]
synonym: "CMS1A1" EXACT [DOID:0110678]
synonym: "CMS4A" EXACT [DOID:0110678, MONDO:Lexical, OMIM:605809]
synonym: "congenital myasthenic syndrome 4A slow-channel" EXACT [DOID:0110678]
synonym: "congenital myasthenic syndrome type 4A" EXACT [DOID:0110678, MONDORULE:4]
synonym: "congenital myasthenic syndrome type Ia1" RELATED [OMIM:605809]
synonym: "congenital myasthenic syndrome type Ia1, formerly" RELATED [OMIM:605809]
synonym: "congenital myasthenic syndrometype Ia1" EXACT [DOID:0110678]
synonym: "myasthenic syndrome, congenital, 4A, slow-channel" RELATED [MONDO:Lexical, OMIM:605809]
synonym: "myasthenic syndrome, congenital, 4A, slow-channel; CMS4A" RELATED [OMIM:605809]
xref: DOID:0110678 {source="MONDO:equivalentTo"}
xref: OMIM:605809 {source="DOID:0110678", source="MONDO:equivalentTo"}
xref: UMLS:C1853949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605809"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110678
property_value: exactMatch http://identifiers.org/omim/605809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853949

[Term]
id: MONDO:0011601
name: neonatal intrahepatic cholestasis due to citrin deficiency
def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." [Orphanet:247598]
subset: ordo_disease {source="Orphanet:247598"}
synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814]
synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814]
synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814]
synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598]
synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214]
synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214]
synonym: "NICCD" EXACT [Orphanet:247598]
xref: GARD:0010214 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.2 {source="Orphanet:247598", source="ORDO:247598/attributed", source="ORDO:247598/ntbt"}
xref: MESH:C536398 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605814 {source="Orphanet:247598", source="ORDO:247598/e", source="MONDO:equivalentTo"}
xref: Orphanet:247598 {source="MONDO:equivalentTo", source="OMIM:605814"}
xref: SCTID:717155003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.94"}
xref: UMLS:C1853942 {source="Orphanet:247598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605814", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4274030 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0016602 {source="Orphanet:247598"} ! citrin deficiency
property_value: exactMatch http://identifiers.org/mesh/C536398
property_value: exactMatch http://identifiers.org/omim/605814
property_value: exactMatch http://identifiers.org/snomedct/717155003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853942
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274030
property_value: exactMatch Orphanet:247598

[Term]
id: MONDO:0011602
name: autosomal recessive nonsyndromic deafness 27
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31." [DOID:0110485, PMID:11175289]
synonym: "autosomal recessive deafness 27" EXACT [DOID:0110485]
synonym: "autosomal recessive nonsyndromic deafness type 27" EXACT [DOID:0110485, MONDORULE:2]
synonym: "deafness, autosomal recessive 27" RELATED [MONDO:Lexical, OMIM:605818]
synonym: "deafness, autosomal recessive 27; DFNB27" RELATED [OMIM:605818]
synonym: "DFNB27" EXACT [DOID:0110485, MONDO:Lexical, OMIM:605818]
xref: DOID:0110485 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110485"}
xref: MESH:C565287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605818 {source="MONDO:equivalentTo", source="DOID:0110485"}
xref: UMLS:C1853941 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605818"}
is_a: MONDO:0019588 {source="DC-OMIM:605818", source="DOID:0110485", source="OMIM:605818"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110485
property_value: exactMatch http://identifiers.org/mesh/C565287
property_value: exactMatch http://identifiers.org/omim/605818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853941

[Term]
id: MONDO:0011603
name: GNE myopathy
def: "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." [Orphanet:602]
subset: ordo_disease {source="Orphanet:602"}
synonym: "distal myopathy with rimmed vacuoles" EXACT [Orphanet:602]
synonym: "distal myopathy, Nonaka type" EXACT [Orphanet:602]
synonym: "DMRV" EXACT [Orphanet:602]
synonym: "hereditary inclusion body myopathy type 2" EXACT [Orphanet:602]
synonym: "HIBM2" EXACT [Orphanet:602]
synonym: "IBM2" EXACT [Orphanet:602]
synonym: "inclusion body myopathy 2, autosomal recessive" RELATED [OMIM:605820]
synonym: "inclusion body myopathy 2, autosomal recessive, formerly" RELATED [OMIM:605820]
synonym: "inclusion body myopathy autosomal recessive" EXACT [OMIM:605820]
synonym: "inclusion body myopathy type 2" EXACT [Orphanet:602]
synonym: "inclusion body myopathy, autosomal recessive" RELATED [GARD:0009493]
synonym: "inclusion body myopathy, hereditary, autosomal recessive" RELATED [OMIM:605820]
synonym: "inclusion body myopathy, quadriceps-sparing" RELATED [GARD:0009493, OMIM:605820]
synonym: "myopathy, distal, with or without rimmed vacuoles" RELATED [OMIM:605820]
synonym: "myopathy, distal, with rimmed vacuoles" RELATED [OMIM:605820]
synonym: "NM" RELATED [MONDO:Lexical, OMIM:605820]
synonym: "Nonaka distal myopathy" RELATED [OMIM:605820]
synonym: "Nonaka myopathy" EXACT [Orphanet:602]
synonym: "Nonaka myopathy" RELATED [MONDO:Lexical, OMIM:605820]
synonym: "Nonaka myopathy; NM" RELATED [OMIM:605820]
synonym: "QSM" RELATED [GARD:0009493]
synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493]
synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602]
synonym: "rimmed vacuole myopathy" RELATED [GARD:0009493]
xref: GARD:0009493 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.8 {source="Orphanet:602", source="ORDO:602/attributed", source="ORDO:602/ntbt"}
xref: OMIM:605820 {source="ORDO:602/e", source="Orphanet:602", source="MONDO:equivalentTo"}
xref: Orphanet:602 {source="OMIM:605820", source="MONDO:equivalentTo"}
xref: SCTID:702382000 {source="MONDO:equivalentTo"}
is_a: MONDO:0007827 {source="MONDOLEX:0011603", source="OMIM:605820/inferred"} ! inclusion body myositis
is_a: MONDO:0016109 {source="Orphanet:602"} ! autosomal recessive distal myopathy
is_a: MONDO:0016112 {source="Orphanet:602"} ! inclusion myopathy
is_a: MONDO:0016200 {source="Orphanet:602"} ! qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
is_a: MONDO:0017749 {source="Orphanet:602"} ! disorder of multiple glycosylation
is_a: MONDO:0018284 {source="Orphanet:602"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018795 {source="Orphanet:602"} ! syndromic constitutional thrombocytopenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833373
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853926
property_value: exactMatch http://identifiers.org/mesh/C536816
property_value: exactMatch http://identifiers.org/omim/605820
property_value: exactMatch http://identifiers.org/snomedct/702382000
property_value: exactMatch Orphanet:602

[Term]
id: MONDO:0011604
name: spondylo-ocular syndrome
def: "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." [Orphanet:85194]
subset: ordo_malformation_syndrome {source="Orphanet:85194"}
synonym: "SOS" RELATED [MONDO:Lexical, OMIM:605822]
synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822]
synonym: "spondyloocular syndrome; SOS" RELATED [OMIM:605822]
xref: ICD10:Q87.5 {source="ORDO:85194/attributed", source="ORDO:85194/ntbt", source="Orphanet:85194"}
xref: OMIM:605822 {source="MONDO:equivalentTo", source="ORDO:85194/e", source="Orphanet:85194"}
xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"}
xref: SCTID:715653007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019704 {source="Orphanet:85194"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0020225 {source="Orphanet:85194"} ! syndromic cataract
is_a: MONDO:0020247 {source="Orphanet:85194"} ! congenital vitreoretinal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853925
property_value: exactMatch http://identifiers.org/omim/605822
property_value: exactMatch http://identifiers.org/snomedct/715653007
property_value: exactMatch Orphanet:85194

[Term]
id: MONDO:0011605
name: generalized basaloid follicular hamartoma syndrome
def: "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." [Orphanet:168632]
subset: ordo_disease {source="Orphanet:168632"}
synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827]
synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant; GBFHS" RELATED [OMIM:605827]
synonym: "GBFHS" RELATED [MONDO:Lexical, OMIM:605827]
xref: ICD10:Q82.5 {source="Orphanet:168632", source="ORDO:168632/attributed", source="ORDO:168632/ntbt"}
xref: MESH:C565284 {source="MONDO:equivalentTo"}
xref: OMIM:605827 {source="ORDO:168632/e", source="Orphanet:168632", source="MONDO:equivalentTo"}
xref: Orphanet:168632 {source="MONDO:equivalentTo", source="OMIM:605827"}
xref: SCTID:766928004 {source="MONDO:equivalentTo"}
xref: UMLS:C1853919 {source="NCBI:mim2gene_medline", source="Orphanet:168632", source="MONDO:equivalentTo", source="OMIM:605827"}
is_a: MONDO:0015950 {source="Orphanet:168632", source="indirect"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:168632"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/mesh/C565284
property_value: exactMatch http://identifiers.org/omim/605827
property_value: exactMatch http://identifiers.org/snomedct/766928004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853919
property_value: exactMatch Orphanet:168632

[Term]
id: MONDO:0011606
name: baby rattle pelvis dysplasia
subset: gard_rare
synonym: "baby rattle pelvic dysplasia" RELATED [GARD:0009289]
synonym: "baby rattle pelvis dysplasia" EXACT [OMIM:605838]
xref: GARD:0009289 {source="MONDO:equivalentTo"}
xref: MESH:C537794 {source="MONDO:equivalentTo"}
xref: MESH:C565282 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605838 {source="MONDO:equivalentTo", source="GARD:0009289"}
xref: UMLS:C1853911 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605838"}
is_a: MONDO:0007037 {source="MESH:C537794"} ! achondroplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931614
property_value: exactMatch http://identifiers.org/mesh/C537794
property_value: exactMatch http://identifiers.org/mesh/C565282
property_value: exactMatch http://identifiers.org/omim/605838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853911
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia xsd:anyURI {source="GARD:0009289"}

[Term]
id: MONDO:0011607
name: narcolepsy 2, susceptibility to
subset: predisposition
synonym: "narcolepsy 2, susceptibility to" RELATED [OMIM:605841]
synonym: "narcolepsy 2, susceptibility to; NRCLP2" RELATED [OMIM:605841]
synonym: "NRCLP2" EXACT [MONDO:Lexical, OMIM:605841]
xref: OMIM:605841 {source="MONDO:equivalentTo"}
xref: UMLS:C1853901 {source="OMIM:605841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016158 {source="DC-OMIM:605841"} ! narcolepsy-cataplexy syndrome
property_value: exactMatch http://identifiers.org/omim/605841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853901

[Term]
id: MONDO:0011608
name: atopic dermatitis 5
def: "An atopic dermatitis associated with variation in the region 13q12-q14." [DOID:0110101, PMID:11069631]
synonym: "ATOD5" EXACT [DOID:0110101, MONDO:Lexical, OMIM:605844]
synonym: "atopic dermatitis type 5" EXACT [DOID:0110101, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 5" RELATED [MONDO:Lexical, OMIM:605844]
synonym: "dermatitis, ATOPIC, 5; ATOD5" RELATED [OMIM:605844]
xref: DOID:0110101 {source="MONDO:equivalentTo"}
xref: MESH:C565280 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605844 {source="MONDO:equivalentTo", source="DOID:0110101"}
xref: UMLS:C1853900 {source="NCBI:mim2gene_medline", source="OMIM:605844", source="MONDO:equivalentTo"}
is_a: MONDO:0004980 {source="DC-OMIM:605844", source="DOID:0110101", source="MONDOLEX:0011608", source="OMIM:605844"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110101
property_value: exactMatch http://identifiers.org/mesh/C565280
property_value: exactMatch http://identifiers.org/omim/605844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853900

[Term]
id: MONDO:0011609
name: atopic dermatitis 6
def: "An atopic dermatitis associated with variation in the region 5q31-q33." [DOID:0110102, PMID:11069631]
synonym: "ATOD6" EXACT [DOID:0110102, MONDO:Lexical, OMIM:605845]
synonym: "atopic dermatitis type 6" EXACT [DOID:0110102, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 6" RELATED [MONDO:Lexical, OMIM:605845]
synonym: "dermatitis, ATOPIC, 6; ATOD6" RELATED [OMIM:605845]
xref: DOID:0110102 {source="MONDO:equivalentTo"}
xref: MESH:C565279 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605845 {source="MONDO:equivalentTo", source="DOID:0110102"}
xref: UMLS:C1853899 {source="OMIM:605845", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004980 {source="DC-OMIM:605845", source="DOID:0110102", source="MONDOLEX:0011609", source="OMIM:605845"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110102
property_value: exactMatch http://identifiers.org/mesh/C565279
property_value: exactMatch http://identifiers.org/omim/605845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853899

[Term]
id: MONDO:0011610
name: dimethylglycine dehydrogenase deficiency
def: "Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." [Orphanet:243343]
subset: n_of_one {source="Orphanet:243343-textdef"}
subset: ordo_disease {source="Orphanet:243343"}
synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern]
synonym: "dimethylglycine dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:605850]
synonym: "dimethylglycine dehydrogenase deficiency; DMGDHD" RELATED [OMIM:605850]
synonym: "disorder of dimethylglycine dehydrogenase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of dimethylglycine dehydrogenase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343]
synonym: "DMGDH deficiency" EXACT [Orphanet:243343]
synonym: "Dmgdh deficiency" RELATED [OMIM:605850]
synonym: "DMGDHD" RELATED [MONDO:Lexical, OMIM:605850]
xref: ICD10:E72.5 {source="Orphanet:243343", source="ORDO:243343/attributed", source="ORDO:243343/ntbt"}
xref: MESH:C565278 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605850 {source="Orphanet:243343", source="ORDO:243343/e", source="MONDO:equivalentTo"}
xref: Orphanet:243343 {source="MONDO:equivalentTo", source="OMIM:605850"}
xref: SCTID:719449007 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:C1853892 {source="Orphanet:243343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605850"}
is_a: MONDO:0019239 {source="Orphanet:243343"} ! inborn disorder of serine family metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C565278
property_value: exactMatch http://identifiers.org/omim/605850
property_value: exactMatch http://identifiers.org/snomedct/719449007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853892
property_value: exactMatch Orphanet:243343

[Term]
id: MONDO:0011611
name: short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting
synonym: "short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT [OMIM:605856]
xref: MESH:C566989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605856 {source="MONDO:equivalentTo"}
xref: UMLS:C1970039 {source="OMIM:605856", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566989/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566989
property_value: exactMatch http://identifiers.org/omim/605856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970039

[Term]
id: MONDO:0011612
name: glycine encephalopathy
def: "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." [Orphanet:407]
subset: gard_rare {source="GARD:0007219"}
subset: ordo_disease {source="Orphanet:407"}
synonym: "GCE" RELATED [MONDO:Lexical, OMIM:605899]
synonym: "glycine encephalopathy" EXACT [MONDO:Lexical, OMIM:605899]
synonym: "GLYCINE encephalopathy; GCE" RELATED [OMIM:605899]
synonym: "Glycine synthase deficiency" RELATED [GARD:0007219]
synonym: "hyperglycinemia nonketotic" RELATED [GARD:0007219]
synonym: "hyperglycinemia, Nonketotic" RELATED [OMIM:605899]
synonym: "hyperglycinemia, transient neonatal" RELATED [OMIM:605899]
synonym: "NKA" EXACT [Orphanet:407]
synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407]
synonym: "nonketotic hyperglycinemia" EXACT [CSP2005:1849-0664, DOID:9268]
xref: DOID:9268 {source="MONDO:equivalentTo"}
xref: GARD:0007219 {source="MONDO:equivalentTo"}
xref: ICD10:E72.5 {source="ORDO:407/ntbt", source="Orphanet:407", source="ORDO:407/inclusion"}
xref: ICD10:E72.51 {source="DOID:9268"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C84937 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9268"}
xref: OMIM:605899 {source="ORDO:407/e", source="MONDO:equivalentTo", source="Orphanet:407", source="DOID:9268"}
xref: Orphanet:407 {source="OMIM:605899", source="MONDO:equivalentTo"}
xref: SCTID:237939006 {source="MONDO:kboom-pr-0.91/0.82/0.07", source="MONDO:equivalentTo", source="DOID:9268"}
xref: UMLS:C0751748 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:605899", source="MONDO:equivalentTo", source="NCIT:C84937", source="Orphanet:407", source="DOID:9268"}
is_a: MONDO:0016399 {source="Orphanet:407"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="MONDO:Redundant", source="Orphanet:407"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019239 {source="MONDO:Redundant", source="Orphanet:407"} ! inborn disorder of serine family metabolism
is_a: MONDO:0045020 ! glycine metabolism disease
property_value: closeMatch http://identifiers.org/mesh/D020158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268560
property_value: exactMatch DOID:9268
property_value: exactMatch http://identifiers.org/omim/605899
property_value: exactMatch http://identifiers.org/snomedct/237939006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751748
property_value: exactMatch NCIT:C84937
property_value: exactMatch Orphanet:407
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy xsd:anyURI {source="GARD:0007219"}

[Term]
id: MONDO:0011613
name: autosomal recessive early-onset Parkinson disease 6
def: "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive early-onset Parkinson disease type 6" EXACT [DOID:0060369, MONDORULE:1]
synonym: "autosomal recessive early-onset Parkinson's disease 6" RELATED [DOID:0060369]
synonym: "early-onset Parkinson disease 6" EXACT [DOID:0060369]
synonym: "PARK6" RELATED [MONDO:Lexical, OMIM:605909]
synonym: "Parkinson disease 6, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:605909]
synonym: "Parkinson disease 6, autosomal recessive early-onset; PARK6" RELATED [OMIM:605909]
synonym: "Parkinson disease 6, early-onset" RELATED [OMIM:605909]
synonym: "Parkinson disease 6, late-onset, susceptibility to" RELATED [OMIM:605909]
synonym: "Parkinson disease caused by mutation in PINK1" EXACT [MONDO:design_pattern]
synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [OMIM:605909]
synonym: "PINK1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060369 {source="MONDO:equivalentTo"}
xref: MESH:C565276 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605909 {source="DOID:0060369", source="MONDO:equivalentTo"}
is_a: MONDO:0017279 {source="DOID:0060369", source="MONDOLEX:0011613"} ! young-onset Parkinson disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853833
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970035
property_value: exactMatch DOID:0060369
property_value: exactMatch http://identifiers.org/mesh/C565276
property_value: exactMatch http://identifiers.org/omim/605909

[Term]
id: MONDO:0011614
name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
def: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." [Orphanet:35701]
subset: gard_rare
subset: ordo_disease {source="Orphanet:35701"}
synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical, OMIM:605911]
synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency; HMGCS2D" RELATED [OMIM:605911]
synonym: "HMG CoA synthetase deficiency" RELATED [GARD:0002712]
synonym: "HMG-CoA synthase deficiency" EXACT [Orphanet:35701]
synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911]
synonym: "HMGCS2D" RELATED [MONDO:Lexical, OMIM:605911]
synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911]
xref: GARD:0002712 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="Orphanet:35701", source="ORDO:35701/attributed", source="ORDO:35701/ntbt"}
xref: MESH:C567784 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="ORDO:35701/e"}
xref: Orphanet:35701 {source="OMIM:605911", source="MONDO:equivalentTo"}
xref: SCTID:725286002 {source="MONDO:equivalentTo"}
xref: UMLS:C2751532 {source="Orphanet:35701", source="OMIM:605911", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017713 {source="Orphanet:35701"} ! disorder of fatty acid oxidation and ketogenesis
property_value: exactMatch http://identifiers.org/mesh/C567784
property_value: exactMatch http://identifiers.org/omim/605911
property_value: exactMatch http://identifiers.org/snomedct/725286002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751532
property_value: exactMatch Orphanet:35701

[Term]
id: MONDO:0011615
name: East Texas bleeding disorder
subset: ordo_disease {source="Orphanet:391320"}
synonym: "Bdet" RELATED [OMIM:605913]
synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913]
xref: ICD10:D68.2 {source="ORDO:391320/attributed", source="ORDO:391320/ntbt", source="Orphanet:391320"}
xref: MESH:C565275 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605913 {source="MONDO:equivalentTo", source="ORDO:391320/e", source="Orphanet:391320"}
xref: Orphanet:391320 {source="MONDO:equivalentTo", source="OMIM:605913"}
xref: UMLS:C1853831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605913", source="Orphanet:391320"}
is_a: MONDO:0019039 {source="Orphanet:391320"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch http://identifiers.org/mesh/C565275
property_value: exactMatch http://identifiers.org/omim/605913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853831
property_value: exactMatch Orphanet:391320

[Term]
id: MONDO:0011616
name: holoprosencephaly 6
def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3." [DOID:0110874, PMID:11343300]
synonym: "holoprosencephaly 6" EXACT [MONDO:Lexical, OMIM:605934]
synonym: "holoprosencephaly 6; HPE6" RELATED [OMIM:605934]
synonym: "holoprosencephaly type 6" EXACT [DOID:0110874, MONDORULE:1]
synonym: "HPE6" EXACT [DOID:0110874, MONDO:Lexical, OMIM:605934]
xref: DOID:0110874 {source="MONDO:equivalentTo"}
xref: MESH:C565274 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605934 {source="DOID:0110874", source="MONDO:equivalentTo"}
xref: UMLS:C1853830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605934"}
is_a: MONDO:0016296 {source="DC-OMIM:605934", source="DOID:0110874", source="MESH:C565274", source="OMIM:605934"} ! holoprosencephaly
property_value: exactMatch DOID:0110874
property_value: exactMatch http://identifiers.org/mesh/C565274
property_value: exactMatch http://identifiers.org/omim/605934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853830

[Term]
id: MONDO:0011617
name: arthropathy, erosive
synonym: "arthropathy, erosive" EXACT [OMIM:605935]
xref: MESH:C565273 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605935 {source="MONDO:equivalentTo"}
xref: UMLS:C1853829 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605935"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565273
property_value: exactMatch http://identifiers.org/omim/605935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853829

[Term]
id: MONDO:0011618
name: liver fibrocystic disease and polydactyly
synonym: "liver fibrocystic disease and polydactyly" EXACT [OMIM:605944]
xref: MESH:C565272 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605944 {source="MONDO:equivalentTo"}
xref: UMLS:C1853827 {source="OMIM:605944", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565272
property_value: exactMatch http://identifiers.org/omim/605944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853827

[Term]
id: MONDO:0011619
name: crumpled helices and small mouth
subset: gard_rare {source="GARD:0010078"}
synonym: "crumpled helices and small mouth" EXACT [OMIM:605945]
synonym: "sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" RELATED [GARD:0010078]
xref: GARD:0010078 {source="MONDO:equivalentTo"}
xref: MESH:C536217 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605945 {source="MONDO:equivalentTo"}
xref: UMLS:C1853826 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605945"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536217
property_value: exactMatch http://identifiers.org/omim/605945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853826
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth xsd:anyURI {source="GARD:0010078"}

[Term]
id: MONDO:0011620
name: metaphyseal dysplasia, Braun-Tinschert type
def: "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." [Orphanet:85188]
subset: ordo_malformation_syndrome {source="Orphanet:85188"}
synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946]
xref: ICD10:Q78.5 {source="Orphanet:85188", source="ORDO:85188/attributed", source="ORDO:85188/ntbt"}
xref: MESH:C565271 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="ORDO:85188/e"}
xref: Orphanet:85188 {source="MONDO:equivalentTo", source="OMIM:605946"}
xref: SCTID:717221005 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C1853825 {source="Orphanet:85188", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605946"}
is_a: MONDO:0019703 {source="Orphanet:85188"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C565271
property_value: exactMatch http://identifiers.org/omim/605946
property_value: exactMatch http://identifiers.org/snomedct/717221005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853825
property_value: exactMatch Orphanet:85188

[Term]
id: MONDO:0011621
name: acropectoral syndrome
def: "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." [Orphanet:85203]
subset: gard_rare {source="GARD:0008485"}
subset: ordo_malformation_syndrome {source="Orphanet:85203"}
synonym: "acro-pectoral syndrome" RELATED [GARD:0008485]
synonym: "acropectoral syndrome" EXACT [MONDO:Lexical, OMIM:605967]
synonym: "acropectoral syndrome; ACRPS" RELATED [OMIM:605967]
synonym: "ACRP syndrome" EXACT [OMIM:605967, Orphanet:85203]
synonym: "ACRPS" RELATED [MONDO:Lexical, OMIM:605967]
synonym: "Dundar Acropectoral syndrome" RELATED [OMIM:605967]
synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD:0008485]
synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967]
synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203]
xref: GARD:0008485 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.0 {source="Orphanet:85203", source="ORDO:85203/attributed", source="ORDO:85203/ntbt"}
xref: MESH:C535664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:605967 {source="ORDO:85203/e", source="Orphanet:85203", source="MONDO:equivalentTo"}
xref: Orphanet:85203 {source="MONDO:equivalentTo", source="OMIM:605967"}
xref: SCTID:720412009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.36"}
xref: UMLS:C1853812 {source="NCBI:mim2gene_medline", source="Orphanet:85203", source="MONDO:equivalentTo", source="OMIM:605967"}
is_a: MONDO:0017434 {source="Orphanet:85203"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/mesh/C535664
property_value: exactMatch http://identifiers.org/omim/605967
property_value: exactMatch http://identifiers.org/snomedct/720412009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853812
property_value: exactMatch Orphanet:85203
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome xsd:anyURI {source="GARD:0008485"}

[Term]
id: MONDO:0011622
name: nephrolithiasis, uric acid, susceptibility to
subset: predisposition
synonym: "nephrolithiasis, uric acid, susceptibility to" EXACT [OMIM:605990]
synonym: "susceptibility to uric acid nephrolithiasis" RELATED [OMIM:605990]
synonym: "UAN" RELATED [OMIM:605990]
synonym: "urolithiasis, uric acid, susceptibility to" RELATED [OMIM:605990]
xref: OMIM:605990 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:605990"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008171 ! nephrolithiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700426
property_value: exactMatch http://identifiers.org/omim/605990

[Term]
id: MONDO:0011623
name: spinocerebellar ataxia, autosomal recessive 1
synonym: "AOA2" RELATED [OMIM:606002]
synonym: "ataxia-ocular apraxia 2" RELATED [OMIM:606002]
synonym: "ataxia-oculomotor apraxia 2" RELATED [OMIM:606002]
synonym: "SCAR1" RELATED [MONDO:Lexical, OMIM:606002]
synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:606002]
synonym: "spinocerebellar ataxia, autosomal recessive 1; SCAR1" RELATED [OMIM:606002]
synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002]
xref: OMIM:606002 {source="MONDO:equivalentTo"}
xref: UMLS:C1853761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606002"}
is_a: MONDO:0018996 {source="ORDO:64753/btnt"} ! spinocerebellar ataxia with axonal neuropathy type 2
property_value: exactMatch http://identifiers.org/omim/606002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853761

[Term]
id: MONDO:0011624
name: transaldolase deficiency
def: "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." [Orphanet:101028]
subset: gard_rare {source="GARD:0010445"}
subset: ordo_disease {source="Orphanet:101028"}
synonym: "Eyaid syndrome" RELATED [OMIM:606003]
synonym: "TALDO deficiency" EXACT [Orphanet:101028]
synonym: "Taldo deficiency" RELATED [OMIM:606003]
synonym: "transaldolase deficiency" EXACT [OMIM:606003]
xref: GARD:0010445 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="ORDO:101028/attributed", source="ORDO:101028/ntbt", source="Orphanet:101028"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563207 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606003 {source="ORDO:101028/e", source="MONDO:equivalentTo", source="Orphanet:101028"}
xref: Orphanet:101028 {source="MONDO:equivalentTo", source="OMIM:606003"}
xref: SCTID:124252008 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1291329 {source="ORDO:101028/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101028", source="OMIM:606003"}
is_a: MONDO:0019231 {source="Orphanet:101028"} ! inborn disorder of pentose phosphate metabolism
property_value: exactMatch http://identifiers.org/mesh/C563207
property_value: exactMatch http://identifiers.org/omim/606003
property_value: exactMatch http://identifiers.org/snomedct/124252008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291329
property_value: exactMatch Orphanet:101028
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency xsd:anyURI {source="GARD:0010445"}

[Term]
id: MONDO:0011625
name: autosomal dominant nonsyndromic deafness 18
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22." [DOID:0110549, PMID:11313754]
synonym: "autosomal dominant deafness 18" EXACT [DOID:0110549]
synonym: "autosomal dominant nonsyndromic deafness type 18" EXACT [DOID:0110549, MONDORULE:2]
synonym: "deafness, autosomal dominant 18" RELATED [MONDO:Lexical, OMIM:606012]
synonym: "deafness, autosomal dominant 18; DFNA18" RELATED [OMIM:606012]
synonym: "DFNA18" EXACT [DOID:0110549, MONDO:Lexical, OMIM:606012]
xref: DOID:0110549 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110549"}
xref: MESH:C565267 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606012 {source="DOID:0110549", source="MONDO:equivalentTo"}
xref: UMLS:C1853760 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606012"}
is_a: MONDO:0019587 {source="DC-OMIM:606012", source="DOID:0110549", source="OMIM:606012"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110549
property_value: exactMatch http://identifiers.org/mesh/C565267
property_value: exactMatch http://identifiers.org/omim/606012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853760

[Term]
id: MONDO:0011626
name: acromegaloid features, overgrowth, cleft palate, and hernia
subset: gard_rare {source="GARD:0010194"}
synonym: "acromegaloid features, overgrowth, cleft palate and hernia" RELATED [GARD:0010194]
synonym: "acromegaloid features, overgrowth, cleft palate, and hernia" EXACT [OMIM:606049]
synonym: "Aoch" RELATED [OMIM:606049]
xref: GARD:0010194 {source="MONDO:equivalentTo"}
xref: MESH:C535656 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606049 {source="MONDO:equivalentTo"}
xref: UMLS:C1853757 {source="OMIM:606049", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535656
property_value: exactMatch http://identifiers.org/omim/606049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853757
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia xsd:anyURI {source="GARD:0010194"}

[Term]
id: MONDO:0011627
name: AUTS5
subset: predisposition
synonym: "autism, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:606053]
synonym: "autism, susceptibility to, 5; AUTS5" RELATED [OMIM:606053]
synonym: "autism-related speech delay" RELATED [OMIM:606053]
synonym: "AUTS5" EXACT [MONDO:Lexical, OMIM:606053]
synonym: "phrase speech delay, autism-related" RELATED [OMIM:606053]
xref: OMIM:606053 {source="MONDO:equivalentTo"}
xref: UMLS:C1853755 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606053"}
is_a: MONDO:0005260 {source="DC-OMIM:606053", source="MONDOLEX:0011627", source="OMIM:606053"} ! autism (disease)
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/606053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853755

[Term]
id: MONDO:0011628
name: propionic acidemia
def: "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." [Orphanet:35]
subset: gard_rare {source="GARD:0000467"}
subset: ordo_disease {source="Orphanet:35"}
synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701]
synonym: "Glycinemia, ketotic" RELATED [OMIM:606054]
synonym: "hyperglycinemia with ketoacidosis and leukopenia" RELATED [OMIM:606054]
synonym: "ketotic glycinemia" EXACT [DOID:14701]
synonym: "ketotic hyperglycinemia" EXACT [DOID:14701, OMIM:606054, Orphanet:35]
synonym: "ketotic II glycinemia" EXACT [DOID:14701]
synonym: "PCC deficiency" RELATED [OMIM:606054]
synonym: "prop" RELATED [GARD:0000467]
synonym: "propionic acidemia" EXACT [OMIM:606054]
synonym: "propionic aciduria" EXACT [DOID:14701, Orphanet:35]
synonym: "Propionicacidemia" RELATED [GARD:0000467]
synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35]
synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054]
xref: DOID:14701 {source="MONDO:equivalentTo"}
xref: GARD:0000467 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="Orphanet:35", source="ORDO:35/ntbt", source="ORDO:35/inclusion"}
xref: ICD10:E71.121 {source="DOID:14701", source="MONDO:equivalentTo"}
xref: MESH:D056693 {source="DOID:14701", source="ORDO:35/e", source="Orphanet:35", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85030 {source="DOID:14701", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:606054 {source="DOID:14701", source="ORDO:35/e", source="Orphanet:35", source="MONDO:equivalentTo"}
xref: Orphanet:35 {source="MONDO:equivalentTo", source="OMIM:606054"}
xref: SCTID:69080001 {source="DOID:14701", source="MONDO:equivalentTo"}
xref: UMLS:C0268579 {source="DOID:14701", source="ORDO:35/e", source="NCBI:mim2gene_medline", source="Orphanet:35", source="MONDO:equivalentTo", source="NCIT:C85030", source="OMIM:606054"}
is_a: MONDO:0019215 {source="Orphanet:35"} ! classic organic aciduria
property_value: closeMatch http://identifiers.org/snomedct/124718009
property_value: closeMatch http://identifiers.org/snomedct/18979005
property_value: closeMatch http://identifiers.org/snomedct/237948001
property_value: closeMatch http://identifiers.org/snomedct/360364008
property_value: closeMatch http://identifiers.org/snomedct/367417005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2717876
property_value: exactMatch DOID:14701
property_value: exactMatch http://identifiers.org/mesh/D056693
property_value: exactMatch http://identifiers.org/omim/606054
property_value: exactMatch http://identifiers.org/snomedct/69080001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311298
property_value: exactMatch NCIT:C85030
property_value: exactMatch Orphanet:35
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia xsd:anyURI {source="GARD:0000467"}

[Term]
id: MONDO:0011629
name: MOGS-CDG
def: "(2p13.1)." [Orphanet:79330]
subset: ordo_disease {source="Orphanet:79330"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330]
synonym: "CDG 2B" RELATED [GARD:0010767]
synonym: "CDG IIb" RELATED [OMIM:606056]
synonym: "CDG syndrome type IIb" EXACT [Orphanet:79330]
synonym: "CDG-IIb" EXACT [Orphanet:79330]
synonym: "CDG2B" EXACT [MONDO:Lexical, OMIM:606056, Orphanet:79330]
synonym: "congenital disorder of glycosylation type 2b" EXACT [Orphanet:79330]
synonym: "congenital disorder of glycosylation type IIb" EXACT [Orphanet:79330]
synonym: "congenital disorder of glycosylation, type IIb" RELATED [MONDO:Lexical, OMIM:606056]
synonym: "congenital disorder of glycosylation, type IIb; CDG2B" RELATED [OMIM:606056]
synonym: "GCS1-CDG" RELATED [GARD:0010767]
synonym: "glucosidase 1 deficiency" EXACT [OMIM:606056, Orphanet:79330]
synonym: "MOGS-CDG (CDG-IIb)" RELATED [GARD:0010767]
xref: DOID:0070254 {source="MONDO:equivalentTo"}
xref: GARD:0010767 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79330/attributed", source="ORDO:79330/ntbt", source="Orphanet:79330"}
xref: MESH:C565264 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606056 {source="MONDO:equivalentTo", source="ORDO:79330/e", source="Orphanet:79330"}
xref: Orphanet:79330 {source="MONDO:equivalentTo", source="OMIM:606056"}
xref: SCTID:725028009 {source="MONDO:equivalentTo"}
xref: UMLS:C1853736 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79330", source="OMIM:606056"}
is_a: MONDO:0005501 {source="DC-OMIM:606056", source="MONDOLEX:0011629", source="OMIM:606056"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017740 {source="Orphanet:79330"} ! disorder of protein N-glycosylation
is_a: MONDO:0018287 {source="Orphanet:79330"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:79330"} ! congenital disorder of glycosylation with hepatic involvement
property_value: exactMatch DOID:0070254
property_value: exactMatch http://identifiers.org/mesh/C565264
property_value: exactMatch http://identifiers.org/omim/606056
property_value: exactMatch http://identifiers.org/snomedct/725028009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853736
property_value: exactMatch Orphanet:79330

[Term]
id: MONDO:0011630
name: retinitis pigmentosa 28
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010394"}
synonym: "FAM161A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 28" EXACT [MONDO:Lexical, OMIM:606068]
synonym: "retinitis pigmentosa 28; RP28" RELATED [OMIM:606068]
synonym: "retinitis pigmentosa caused by mutation in FAM161A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 28" EXACT [DOID:0110365, MONDORULE:2, OMIM:606068]
synonym: "RP 28" RELATED [GARD:0010394]
synonym: "RP28" EXACT [DOID:0110365, MONDO:Lexical, OMIM:606068]
xref: DOID:0110365 {source="MONDO:equivalentTo"}
xref: GARD:0010394 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110365"}
xref: OMIM:606068 {source="MONDO:equivalentTo", source="DOID:0110365"}
xref: UMLS:C1419614 {source="MONDO:equivalentTo", source="OMIM:606068"}
is_a: MONDO:0019200 {source="DC-OMIM:606068", source="DOID:0110365", source="MONDO:Redundant", source="OMIM:606068"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853734
property_value: exactMatch DOID:0110365
property_value: exactMatch http://identifiers.org/omim/606068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1419614
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28 xsd:anyURI {source="GARD:0010394"}

[Term]
id: MONDO:0011631
name: hemochromatosis type 4
def: "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:139491]
subset: gard_rare {source="GARD:0010094"}
subset: ordo_disease {source="Orphanet:139491"}
synonym: "autosomal dominant hereditary hemochromatosis" EXACT [DOID:0111028, Orphanet:139491]
synonym: "ferroportin disease" EXACT [DOID:0111028, Orphanet:139491]
synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028, Orphanet:139491]
synonym: "hemochromatosis due to defect in ferroportin" RELATED [OMIM:606069]
synonym: "hemochromatosis, autosomal dominant" RELATED [OMIM:606069]
synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical, OMIM:606069]
synonym: "hemochromatosis, type 4; HFE4" RELATED [OMIM:606069]
synonym: "hereditary hemochromatosis caused by mutation in SLC40A1" EXACT [MONDO:design_pattern]
synonym: "HFE4" EXACT [DOID:0111028, MONDO:Lexical, OMIM:606069]
synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111028 {source="MONDO:equivalentTo"}
xref: GARD:0010094 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="DOID:0111028", source="ORDO:139491/attributed", source="ORDO:139491/ntbt", source="Orphanet:139491"}
xref: MESH:C537249 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e", source="MONDO:ontobio"}
xref: OMIM:606069 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e"}
xref: Orphanet:139491 {source="DOID:0111028", source="MONDO:equivalentTo", source="OMIM:606069"}
xref: SCTID:719975002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1853733 {source="DOID:0111028", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e", source="OMIM:606069"}
is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="Orphanet:139491", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0016363"} ! rare
property_value: exactMatch DOID:0111028
property_value: exactMatch http://identifiers.org/mesh/C537249
property_value: exactMatch http://identifiers.org/omim/606069
property_value: exactMatch http://identifiers.org/snomedct/719975002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853733
property_value: exactMatch Orphanet:139491
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 xsd:anyURI {source="GARD:0010094"}

[Term]
id: MONDO:0011632
name: amyotrophic lateral sclerosis type 21
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS21" EXACT [DOID:0060212, MONDO:Lexical, OMIM:606070]
synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical, OMIM:606070]
synonym: "amyotrophic lateral sclerosis 21; ALS21" RELATED [OMIM:606070]
synonym: "amyotrophic lateral sclerosis caused by mutation in MATR3" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 21" EXACT [MONDORULE:2, OMIM:606070]
synonym: "MATR3 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, distal, 2" RELATED [OMIM:606070]
synonym: "myopathy, distal, 2, formerly" RELATED [OMIM:606070]
synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" RELATED [OMIM:606070]
synonym: "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" RELATED [OMIM:606070]
xref: DOID:0060212 {source="MONDO:equivalentTo"}
xref: OMIM:606070 {source="DOID:0060212", source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="DC-OMIM:606070", source="DOID:0060212", source="MONDO:Redundant", source="MONDOLEX:0011632", source="OMIM:606070"} ! amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853723
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807521
property_value: exactMatch DOID:0060212
property_value: exactMatch http://identifiers.org/omim/606070

[Term]
id: MONDO:0011633
name: Charcot-Marie-Tooth disease axonal type 2C
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." [Orphanet:99937]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99937"}
synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182]
synonym: "Charcot Marie Tooth disease type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [OMIM:606071]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth neuropathy type 2C" EXACT [DOID:0110182]
synonym: "Charcot-Marie-Tooth neuropathy, type 2C" RELATED [OMIM:606071]
synonym: "CMT 2C" RELATED [GARD:0001250]
synonym: "CMT2C" EXACT [DOID:0110182, Orphanet:99937]
synonym: "hereditary motor and sensory neuropathy 2 C" RELATED [GARD:0001250]
synonym: "hereditary motor and sensory neuropathy type IIc" EXACT [DOID:0110182]
synonym: "hereditary motor and sensory neuropathy, type 2C" RELATED [OMIM:606071]
synonym: "hereditary motor and sensory neuropathy, type IIC" RELATED [MONDO:Lexical, OMIM:606071]
synonym: "hereditary motor and sensory neuropathy, type IIC; HMSN2C" RELATED [OMIM:606071]
synonym: "HMSN 2 C" RELATED [GARD:0001250]
synonym: "HMSN 2C" RELATED [OMIM:606071]
synonym: "HMSN2C" EXACT [DOID:0110182, MONDO:Lexical, OMIM:606071]
synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110182 {source="MONDO:equivalentTo"}
xref: GARD:0001250 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99937/attributed", source="ORDO:99937/ntbt", source="DOID:0110182", source="Orphanet:99937"}
xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="ORDO:99937/e", source="Orphanet:99937", source="GARD:0001250"}
xref: Orphanet:99937 {source="OMIM:606071", source="MONDO:equivalentTo", source="DOID:0110182"}
xref: SCTID:717010007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002316 {source="DC-OMIM:606071", source="MONDOLEX:0011633", source="linkedlifedata"} ! motor peripheral neuropathy
is_a: MONDO:0018993 {source="DOID:0110182", source="MONDO:Redundant", source="Orphanet:99937"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853710
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2079540
property_value: exactMatch DOID:0110182
property_value: exactMatch http://identifiers.org/omim/606071
property_value: exactMatch http://identifiers.org/snomedct/717010007
property_value: exactMatch Orphanet:99937
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c xsd:anyURI {source="GARD:0001250"}

[Term]
id: MONDO:0011634
name: rippling muscle disease
def: "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" [doi:10.1002/mus.10156, MONDO:cjm]
xref: ICD10:G71.8 {source="Orphanet:97238", source="ORDO:97238/attributed", source="ORDO:97238/ntbt"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069417 {source="ORDO:97238/e", source="Orphanet:97238"}
xref: SCTID:709281006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016110 ! non-dystrophic myopathy
property_value: exactMatch http://identifiers.org/meddra/10069417
property_value: exactMatch http://identifiers.org/mesh/C535685
property_value: exactMatch http://identifiers.org/snomedct/709281006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853698
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease xsd:anyURI {source="GARD:0009164"}

[Term]
id: MONDO:0011635
name: MNG3
synonym: "goiter, multinodular 3" RELATED [MONDO:Lexical, OMIM:606082]
synonym: "goiter, multinodular 3; MNG3" RELATED [OMIM:606082]
synonym: "MNG3" EXACT [MONDO:Lexical, OMIM:606082]
xref: MESH:C565260 {source="MONDO:equivalentTo"}
xref: OMIM:606082 {source="MONDO:equivalentTo"}
xref: UMLS:C1853686 {source="OMIM:606082", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007681 ! familial multinodular goiter
property_value: exactMatch http://identifiers.org/mesh/C565260
property_value: exactMatch http://identifiers.org/omim/606082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853686

[Term]
id: MONDO:0011636
name: Diamond-Blackfan anemia 2
subset: gard_rare
synonym: "anemia Diamond-Blackfan 2" RELATED [GARD:0008283]
synonym: "DBA2" RELATED [GARD:0008283, MESH:C536130, MONDO:Lexical, OMIM:606129]
synonym: "Diamond-Blackfan anemia 2" EXACT [MESH:C536130, MONDO:Lexical, OMIM:606129]
synonym: "Diamond-Blackfan anemia 2; DBA2" RELATED [OMIM:606129]
synonym: "Diamond-Blackfan Anemia, 2" RELATED [MESH:C536130]
xref: GARD:0008283 {source="MONDO:equivalentTo"}
xref: MESH:C536130 {source="MONDO:equivalentTo"}
xref: OMIM:606129 {source="MONDO:equivalentTo", source="GARD:0008283"}
xref: UMLS:C1853666 {source="MEDGEN:kboom-pr98-c99", source="OMIM:606129", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0008283"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease
is_a: MONDO:0015253 {source="DC-OMIM:606129", source="MESH:C536130", source="MONDOLEX:0011636", source="OMIM:606129"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C536130
property_value: exactMatch http://identifiers.org/omim/606129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853666
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2 xsd:anyURI {source="GARD:0008283"}

[Term]
id: MONDO:0011637
name: Sener syndrome
subset: gard_rare {source="GARD:0008451"}
synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" RELATED [OMIM:606156]
synonym: "polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" RELATED [GARD:0008451]
synonym: "Sener syndrome" EXACT [OMIM:606156]
xref: GARD:0008451 {source="MONDO:equivalentTo"}
xref: MESH:C537579 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606156 {source="MONDO:equivalentTo"}
xref: UMLS:C1853616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606156"}
is_a: MONDO:0003847 {source="MESH:C537579/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537579
property_value: exactMatch http://identifiers.org/omim/606156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853616
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome xsd:anyURI {source="GARD:0008451"}

[Term]
id: MONDO:0011638
name: neuroferritinopathy
def: "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." [Orphanet:157846]
comment: Editor note: consider relation to basal ganglia
subset: ordo_disease {source="Orphanet:157846"}
synonym: "adult basal ganglia disease" EXACT [DOID:0110737, Orphanet:157846]
synonym: "basal ganglia disease adult-onset" RELATED [GARD:0010686]
synonym: "basal ganglia disease, adult-onset" RELATED [OMIM:606159]
synonym: "ferritin-related neurodegeneration" EXACT [DOID:0110737, Orphanet:157846]
synonym: "hereditary ferritinopathy" EXACT [DOID:0110737, Orphanet:157846]
synonym: "NBIA3" EXACT [DOID:0110737, MONDO:Lexical, OMIM:606159]
synonym: "neurodegeneration with brain iron accumulation 3" RELATED [MONDO:Lexical, OMIM:606159]
synonym: "neurodegeneration with brain iron accumulation 3; NBIA3" RELATED [OMIM:606159]
synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [DOID:0110737, MONDORULE:1, OMIM:606159]
synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159]
synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737]
xref: DOID:0110737 {source="MONDO:equivalentTo"}
xref: GARD:0010686 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="ORDO:157846/attributed", source="ORDO:157846/ntbt", source="DOID:0110737", source="Orphanet:157846"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e", source="MONDO:ontobio"}
xref: OMIM:606159 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e"}
xref: Orphanet:157846 {source="OMIM:606159", source="MONDO:equivalentTo", source="DOID:0110737"}
xref: SCTID:699299001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1853578 {source="OMIM:606159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e"}
is_a: MONDO:0015548 {source="Orphanet:157846"} ! Huntington disease-like syndrome
is_a: MONDO:0017763 {source="Orphanet:157846"} ! disorder of iron metabolism and transport
is_a: MONDO:0018307 {source="DC-OMIM:606159", source="DOID:0110737", source="OMIM:606159", source="Orphanet:157846"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch DOID:0110737
property_value: exactMatch http://identifiers.org/mesh/C548080
property_value: exactMatch http://identifiers.org/omim/606159
property_value: exactMatch http://identifiers.org/snomedct/699299001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853578
property_value: exactMatch Orphanet:157846

[Term]
id: MONDO:0011639
name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series 105650. {source="OMIM:606164"}
synonym: "DBA15" RELATED [MONDO:Lexical, OMIM:606164]
synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:606164]
synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis; DBA15" RELATED [OMIM:606164]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:design_pattern]
synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:606164 {source="MONDO:equivalentTo"}
xref: UMLS:C1853576 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606164"}
xref: UMLS:C4225411 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="MONDO:Redundant", source="MONDOLEX:0011639", source="OMIM:606164"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/606164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225411

[Term]
id: MONDO:0011640
name: genitopatellar syndrome
def: "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." [Orphanet:85201]
subset: gard_rare {source="GARD:0010994"}
subset: ordo_malformation_syndrome {source="Orphanet:85201"}
synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED [OMIM:606170]
synonym: "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" EXACT [Orphanet:85201]
synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170]
synonym: "GENITOPATELLAR syndrome; GTPTS" RELATED [OMIM:606170]
synonym: "GTPTS" RELATED [MONDO:Lexical, OMIM:606170]
xref: GARD:0010994 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:85201", source="ORDO:85201/attributed", source="ORDO:85201/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565255 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606170 {source="Orphanet:85201", source="MONDO:equivalentTo", source="ORDO:85201/e"}
xref: Orphanet:85201 {source="OMIM:606170", source="MONDO:equivalentTo"}
xref: SCTID:702367005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1853566 {source="Orphanet:85201", source="OMIM:606170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85201", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85201"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019712 {source="Orphanet:85201"} ! patellar dysostosis
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C565255
property_value: exactMatch http://identifiers.org/omim/606170
property_value: exactMatch http://identifiers.org/snomedct/702367005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853566
property_value: exactMatch Orphanet:85201
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome xsd:anyURI {source="GARD:0010994"}

[Term]
id: MONDO:0011641
name: baculum, congenital absence of
synonym: "baculum, congenital absence of" EXACT [OMIM:606174]
synonym: "Os penis, congenital absence of" RELATED [OMIM:606174]
xref: OMIM:606174 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853565
property_value: exactMatch http://identifiers.org/omim/606174

[Term]
id: MONDO:0011642
name: carnitine acetyltransferase deficiency
def: "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state." [MONDO:cjm, PMID:28955988]
subset: gard_rare
synonym: "Acetyl-carnitine deficiency" RELATED [GTR:AN0098794]
synonym: "acetyl-carnitine deficiency" RELATED [GARD:0008602]
synonym: "carnitine acetyltransferase deficiency" EXACT [GARD:0008602, OMIM:606175]
synonym: "CrAT" RELATED [GTR:AN0098795, PMID:22560225, PMID:28955988]
xref: GARD:0008602 {source="MONDO:equivalentTo"}
xref: GTR:AN0098794 {source="UMLS:CN035113"}
xref: GTR:AN0098795 {source="UMLS:CN035113"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606175 {source="MONDO:equivalentTo"}
xref: SCTID:124257002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C1443228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606175"}
xref: UMLS:CN035113 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563249/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C563249
property_value: exactMatch http://identifiers.org/omim/606175
property_value: exactMatch http://identifiers.org/snomedct/124257002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035113
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency xsd:anyURI {source="GARD:0008602"}

[Term]
id: MONDO:0011643
name: obsolete permanent neonatal diabetes mellitus
comment: OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1803 xsd:string
is_obsolete: true
replaced_by: MONDO:0100164

[Term]
id: MONDO:0011644
name: pars planitis
def: "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." [NCIT:P378]
synonym: "familial pars planitis (subtype)" RELATED [GARD:0007339]
synonym: "inflammation of pars plana of ciliary body" EXACT []
synonym: "pars plana of ciliary body inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pars plana of ciliary bodyitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pars planitis" EXACT [OMIM:606177]
synonym: "peripheral retinal inflammation" RELATED [GARD:0007339]
synonym: "posterior cyclitis" EXACT [DOID:12731]
xref: COHD:434026 {source="MONDO:equivalentTo"}
xref: DOID:12731 {source="EFO:1001088", source="MONDO:equivalentTo"}
xref: EFO:1001088 {source="MONDO:equivalentTo"}
xref: GARD:0007339 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H30.2 {source="DOID:12731"}
xref: ICD9:363.21 {source="DOID:12731"}
xref: MedDRA:10034052 {source="EFO:1001088"}
xref: MESH:D015868 {source="EFO:1001088", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12731"}
xref: NCIT:C34903 {source="EFO:1001088", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.79/1.23", source="DOID:12731"}
xref: OMIM:606177 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"}
xref: SCTID:314428001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20", source="DOID:12731"}
xref: UMLS:C0030593 {source="NCIT:C34903", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606177", source="DOID:12731"}
is_a: MONDO:0002970 ! ciliary body disease
is_a: MONDO:0004674 {source="DOID:12731"} ! chorioretinitis (disease)
is_a: MONDO:0006806 {source="DOID:12731", source="EFO:1001088", source="MESH:D015868", source="linkedlifedata", source="linkedlifedata/inferred"} ! intermediate uveitis (disease)
property_value: closeMatch http://identifiers.org/meddra/10034052
property_value: closeMatch http://identifiers.org/snomedct/193452008
property_value: closeMatch http://identifiers.org/snomedct/45688009
property_value: exactMatch DOID:12731
property_value: exactMatch http://identifiers.org/mesh/D015868
property_value: exactMatch http://identifiers.org/omim/606177
property_value: exactMatch http://identifiers.org/snomedct/314428001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030593
property_value: exactMatch NCIT:C34903

[Term]
id: MONDO:0011645
name: aneurysmal bone cysts
subset: gard_rare {source="GARD:0008646"}
synonym: "aneurysmal bone cysts" EXACT [OMIM:606179]
xref: GARD:0008646 {source="MONDO:equivalentTo"}
xref: OMIM:606179 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152244
property_value: exactMatch http://identifiers.org/omim/606179
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts xsd:anyURI {source="GARD:0008646"}

[Term]
id: MONDO:0011646
name: laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
synonym: "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" EXACT [OMIM:606183]
xref: MESH:C565252 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606183 {source="MONDO:equivalentTo"}
xref: UMLS:C1853556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606183"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565252
property_value: exactMatch http://identifiers.org/omim/606183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853556

[Term]
id: MONDO:0011647
name: Alzheimer disease 7
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." [DOID:0110039, PMID:11443525]
synonym: "AD7" EXACT [DOID:0110039]
synonym: "Ad7" RELATED [OMIM:606187]
synonym: "Alzheimer disease 7" EXACT [DOID:0110039, OMIM:606187]
synonym: "Alzheimer disease type 7" EXACT [MONDORULE:1, OMIM:606187]
synonym: "Alzheimer disease, familial 7" EXACT [DOID:0110039]
synonym: "Alzheimer disease, familial, 7" RELATED [OMIM:606187]
synonym: "Alzheimer's disease 7" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 7" EXACT [DOID:0110039, MONDORULE:1]
xref: DOID:0110039 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="DOID:0110039", source="MONDO:subClassOf"}
xref: MESH:C565251 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606187 {source="DOID:0110039", source="MONDO:equivalentTo"}
xref: UMLS:C1853555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606187"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110039
property_value: exactMatch http://identifiers.org/mesh/C565251
property_value: exactMatch http://identifiers.org/omim/606187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853555

[Term]
id: MONDO:0011648
name: radiation-induced meningioma
subset: gard_rare {source="GARD:0008491"}
synonym: "meningioma, radiation-induced" RELATED [OMIM:606190]
synonym: "Mnri" RELATED [OMIM:606190]
synonym: "radiation induced meningioma" RELATED [GARD:0008491]
xref: GARD:0008491 {source="MONDO:equivalentTo"}
xref: MESH:C536266 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606190 {source="MONDO:equivalentTo"}
xref: UMLS:C1853554 {source="OMIM:606190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="MESH:C536266", source="MONDO:Redundant", source="MONDOLEX:0011648", source="ORDO:2495/btnt"} ! meningioma (disease)
property_value: exactMatch http://identifiers.org/mesh/C536266
property_value: exactMatch http://identifiers.org/omim/606190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853554
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma xsd:anyURI {source="GARD:0008491"}

[Term]
id: MONDO:0011649
name: AVSD 1
subset: predisposition
synonym: "atrioventricular canal defect" RELATED [OMIM:606215]
synonym: "atrioventricular septal defect" RELATED [MONDO:Lexical, OMIM:606215]
synonym: "atrioventricular septal defect, susceptibility to, 1" RELATED [OMIM:606215]
synonym: "atrioventricular septal defect; AVSD" RELATED [OMIM:606215]
synonym: "AVC defect" RELATED [OMIM:606215]
synonym: "AVSD" RELATED [MONDO:Lexical, OMIM:606215]
synonym: "endocardial cushion defect" RELATED [OMIM:606215]
xref: OMIM:606215 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020290 {source="DC-OMIM:606215", source="MONDOLEX:0011649", source="OMIM:606215"} ! atrioventricular septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1389016
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853513
property_value: exactMatch http://identifiers.org/omim/606215

[Term]
id: MONDO:0011650
name: atrioventricular septal defect, susceptibility to, 2
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "atrioventricular septal defect caused by mutation in CRELD1" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [OMIM:606217]
synonym: "atrioventricular septal defect, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606217]
synonym: "atrioventricular septal defect, susceptibility to, 2; AVSD2" RELATED [OMIM:606217]
synonym: "atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606217]
synonym: "AVSD2" RELATED [MONDO:Lexical, OMIM:606217]
synonym: "CRELD1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to atrioventricular septal defect 2" RELATED [OMIM:606217]
xref: MESH:C565249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606217 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0020290 ! atrioventricular septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853508
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853509
property_value: exactMatch http://identifiers.org/mesh/C565249
property_value: exactMatch http://identifiers.org/omim/606217

[Term]
id: MONDO:0011651
name: intellectual disability, short stature, facial anomalies, and joint dislocations
synonym: "mental retardation, short stature, facial anomalies, and JOINT dislocations" RELATED [OMIM:606220]
xref: MESH:C565248 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606220 {source="MONDO:equivalentTo"}
xref: UMLS:C1853507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606220"}
is_a: MONDO:0003847 {source="MESH:C565248/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565248
property_value: exactMatch http://identifiers.org/omim/606220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853507

[Term]
id: MONDO:0011652
name: Phelan McDermid syndrome
def: "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." [Orphanet:48652]
subset: ordo_malformation_syndrome {source="Orphanet:48652"}
synonym: "22q13 deletion" EXACT [Orphanet:48652]
synonym: "22q13.3 deletion syndrome" RELATED [GARD:0010130]
synonym: "chromosome 22Q13.3 deletion syndrome" RELATED [OMIM:606232]
synonym: "deletion 22q13.3 syndrome" RELATED [GARD:0010130]
synonym: "monosomy 22q13" EXACT []
synonym: "monosomy type 22q13" EXACT [MONDORULE:7, Orphanet:48652]
synonym: "PHELAN-McDermid syndrome" RELATED [MONDO:Lexical, OMIM:606232]
synonym: "Phelan-McDermid syndrome" EXACT [Orphanet:48652]
synonym: "PHELAN-McDermid syndrome; PHMDS" RELATED [OMIM:606232]
synonym: "PHMDS" RELATED [MONDO:Lexical, OMIM:606232]
synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232]
xref: GARD:0010130 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:48652/attributed", source="ORDO:48652/ntbt", source="Orphanet:48652"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536801 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606232 {source="MONDO:equivalentTo", source="ORDO:48652/e", source="Orphanet:48652"}
xref: Orphanet:48652 {source="MONDO:equivalentTo", source="OMIM:606232"}
xref: SCTID:699310000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.70"}
xref: UMLS:C1853490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:48652", source="OMIM:606232"}
is_a: MONDO:0016920 {source="Orphanet:48652"} ! partial deletion of the long arm of chromosome 22
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931332
property_value: exactMatch http://identifiers.org/mesh/C536801
property_value: exactMatch http://identifiers.org/omim/606232
property_value: exactMatch http://identifiers.org/snomedct/699310000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853490
property_value: exactMatch Orphanet:48652

[Term]
id: MONDO:0011653
name: thyroid cancer, nonmedullary, 3
synonym: "NMTC3" EXACT [MONDO:Lexical, OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 1" RELATED [OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 1, formerly" RELATED [OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 3" RELATED [MONDO:Lexical, OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 3; NMTC3" RELATED [OMIM:606240]
xref: OMIM:606240 {source="MONDO:equivalentTo"}
xref: UMLS:C1853488 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606240"}
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: exactMatch http://identifiers.org/omim/606240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853488

[Term]
id: MONDO:0011654
name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism
synonym: "Kondoh syndrome" RELATED [OMIM:606242]
synonym: "mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED [OMIM:606242]
xref: MESH:C565246 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606242 {source="MONDO:equivalentTo"}
xref: UMLS:C1853480 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606242"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565246
property_value: exactMatch http://identifiers.org/omim/606242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853480

[Term]
id: MONDO:0011655
name: alveolar soft part sarcoma (disease)
def: "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." [NCIT:C7943]
subset: ordo_disease {source="Orphanet:163699"}
synonym: "adult alveolar soft Part sarcoma" EXACT [NCIT:C7943]
synonym: "adult alveolar soft part sarcoma" EXACT [DOID:4239]
synonym: "adult alveolar soft-Part sarcoma" EXACT [NCIT:C7943]
synonym: "alveolar soft PART sarcoma" RELATED [MONDO:Lexical, OMIM:606243]
synonym: "alveolar soft Part sarcoma" EXACT [DOID:4239, NCIT:C3750, NCIT:C7943]
synonym: "alveolar soft part sarcoma" EXACT [MONDO:ambiguous, NCIT:C3750]
synonym: "alveolar soft PART sarcoma; ASPS" RELATED [OMIM:606243]
synonym: "alveolar soft tissue sarcoma" RELATED [Orphanet:163699]
synonym: "alveolar soft-part sarcoma" EXACT [Orphanet:163699]
synonym: "alveolar soft-tissue sarcoma" RELATED [Orphanet:163699]
synonym: "ASPS" EXACT [NCIT:C3750, Orphanet:163699]
synonym: "ASPS" RELATED [MONDO:Lexical, OMIM:606243]
synonym: "childhood alveolar soft part sarcoma" NARROW [DOID:4239]
synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092]
xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"}
xref: EFO:0007143 {source="MONDO:equivalentTo"}
xref: GARD:0005654 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0012218 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="ORDO:163699/ntbt", source="Orphanet:163699"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9581/3 {source="NCIT:C3750"}
xref: MedDRA:10001882 {source="ORDO:163699/e", source="Orphanet:163699"}
xref: MESH:D018234 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="MONDO:ontobio", source="Orphanet:163699", source="EFO:0007143"}
xref: NCIT:C3750 {source="DOID:4239", source="MONDO:equivalentTo"}
xref: NCIT:C7943 {source="DOID:4239", source="MONDO:equivalentTo"}
xref: OMIM:606243 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="Orphanet:163699"}
xref: ONCOTREE:ASPS {source="MONDO:equivalentTo"}
xref: Orphanet:163699 {source="MONDO:equivalentTo", source="OMIM:606243"}
xref: SCTID:404056007 {source="DOID:4239", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206657 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C3750", source="ORDO:163699/e", source="Orphanet:163699", source="OMIM:606243"}
xref: UMLS:C0279544 {source="MEDGEN:kboom-pr98-c99", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C7943"}
is_a: MONDO:0018078 {source="MONDOLEX:0011655", source="NCIT:C3750", source="NCIT:C7943/inferred", source="Orphanet:163699"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002847 {source="DOID:4239"} ! skeletal muscle cancer
property_value: closeMatch http://identifiers.org/snomedct/302839003
property_value: closeMatch http://identifiers.org/snomedct/88195001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279985
property_value: closeMatch NCIT:C8092
property_value: exactMatch DOID:4239
property_value: exactMatch http://identifiers.org/meddra/10001882
property_value: exactMatch http://identifiers.org/mesh/D018234
property_value: exactMatch http://identifiers.org/omim/606243
property_value: exactMatch http://identifiers.org/snomedct/404056007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279544
property_value: exactMatch NCIT:C3750
property_value: exactMatch NCIT:C7943
property_value: exactMatch Orphanet:163699

[Term]
id: MONDO:0011656
name: PDB4
synonym: "Paget disease of bone 4" RELATED [MONDO:Lexical, OMIM:606263]
synonym: "Paget disease of bone 4; PDB4" RELATED [OMIM:606263]
synonym: "PDB4" EXACT [MONDO:Lexical, OMIM:606263]
xref: MESH:C565240 {source="MONDO:equivalentTo"}
xref: OMIM:606263 {source="MONDO:equivalentTo"}
xref: UMLS:C1853473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606263"}
is_a: MONDO:0005382 {source="DC-OMIM:606263", source="OMIM:606263"} ! bone Paget disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch Orphanet:280110
property_value: exactMatch http://identifiers.org/mesh/C565240
property_value: exactMatch http://identifiers.org/omim/606263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853473

[Term]
id: MONDO:0011657
name: autosomal dominant nonsyndromic deafness 24
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter." [DOID:0110554, PMID:10739769]
synonym: "autosomal dominant deafness 24" EXACT [DOID:0110554]
synonym: "autosomal dominant nonsyndromic deafness type 24" EXACT [DOID:0110554, MONDORULE:2]
synonym: "deafness, autosomal dominant 24" RELATED [MONDO:Lexical, OMIM:606282]
synonym: "deafness, autosomal dominant 24; DFNA24" RELATED [OMIM:606282]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 24" RELATED [GARD:0009166]
synonym: "DFNA 24" RELATED [GARD:0009166]
synonym: "DFNA24" EXACT [DOID:0110554, MONDO:Lexical, OMIM:606282]
xref: DOID:0110554 {source="MONDO:equivalentTo"}
xref: GARD:0009166 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110554"}
xref: MESH:C565239 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606282 {source="MONDO:equivalentTo", source="DOID:0110554"}
xref: UMLS:C1853451 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606282"}
is_a: MONDO:0019587 {source="DC-OMIM:606282", source="DOID:0110554", source="OMIM:606282"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110554
property_value: exactMatch http://identifiers.org/mesh/C565239
property_value: exactMatch http://identifiers.org/omim/606282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853451

[Term]
id: MONDO:0011658
name: autosomal recessive early-onset Parkinson disease 7
def: "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [DOID:0060370, MONDORULE:1]
synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [DOID:0060370]
synonym: "PARK7" RELATED [MONDO:Lexical, OMIM:606324]
synonym: "PARK7 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:606324]
synonym: "Parkinson disease 7, autosomal recessive early-onset; PARK7" RELATED [OMIM:606324]
synonym: "Parkinson disease caused by mutation in PARK7" EXACT [MONDO:design_pattern]
xref: DOID:0060370 {source="MONDO:equivalentTo"}
xref: MESH:C565238 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606324 {source="MONDO:equivalentTo", source="DOID:0060370"}
xref: UMLS:C1853445 {source="OMIM:606324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017279 {source="DOID:0060370", source="MONDOLEX:0011658"} ! young-onset Parkinson disease
property_value: exactMatch DOID:0060370
property_value: exactMatch http://identifiers.org/mesh/C565238
property_value: exactMatch http://identifiers.org/omim/606324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853445

[Term]
id: MONDO:0011659
name: HTX3
synonym: "heterotaxy, visceral, 3, autosomal" RELATED [MONDO:Lexical, OMIM:606325]
synonym: "heterotaxy, visceral, 3, autosomal; HTX3" RELATED [OMIM:606325]
synonym: "HTX3" EXACT [MONDO:Lexical, OMIM:606325]
xref: MESH:C565237 {source="MONDO:equivalentTo"}
xref: OMIM:606325 {source="MONDO:equivalentTo"}
xref: UMLS:C1853444 {source="OMIM:606325", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:606325", source="MONDOLEX:0011659", source="OMIM:606325"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/mesh/C565237
property_value: exactMatch http://identifiers.org/omim/606325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853444

[Term]
id: MONDO:0011660
name: autosomal dominant nonsyndromic deafness 22
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 22" EXACT [DOID:0110552]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 22" EXACT [DOID:0110552, MONDORULE:2]
synonym: "deafness, autosomal dominant 22" RELATED [MONDO:Lexical, OMIM:606346]
synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" RELATED [OMIM:606346]
synonym: "deafness, autosomal dominant 22; DFNA22" RELATED [OMIM:606346]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" RELATED [GARD:0009167]
synonym: "deafness, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:606346]
synonym: "DFNA 22" RELATED [GARD:0009167]
synonym: "DFNA22" EXACT [DOID:0110552, MONDO:Lexical, OMIM:606346]
synonym: "MYO6 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110552 {source="MONDO:equivalentTo"}
xref: GARD:0009167 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110552"}
xref: MESH:C538197 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606346 {source="MONDO:equivalentTo", source="DOID:0110552"}
is_a: MONDO:0019587 {source="DC-OMIM:606346", source="DOID:0110552", source="MONDO:Redundant", source="OMIM:606346"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853441
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931767
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149009
property_value: exactMatch DOID:0110552
property_value: exactMatch http://identifiers.org/mesh/C538197
property_value: exactMatch http://identifiers.org/omim/606346

[Term]
id: MONDO:0011661
name: inflammatory bowel disease 5
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31." [DOID:0110889, PMID:11586304]
synonym: "IBD5" EXACT [DOID:0110889, MONDO:Lexical, OMIM:606348]
synonym: "inflammatory bowel disease 5" EXACT [MONDO:Lexical, OMIM:606348]
synonym: "inflammatory bowel disease 5; IBD5" RELATED [OMIM:606348]
synonym: "inflammatory bowel disease type 5" EXACT [DOID:0110889, MONDORULE:1]
xref: DOID:0110889 {source="MONDO:equivalentTo"}
xref: MESH:C565234 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606348 {source="DOID:0110889", source="MONDO:equivalentTo"}
xref: UMLS:C1853438 {source="OMIM:606348", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:606348", source="DOID:0110889", source="MESH:C565234", source="OMIM:606348"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110889
property_value: exactMatch http://identifiers.org/mesh/C565234
property_value: exactMatch http://identifiers.org/omim/606348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853438

[Term]
id: MONDO:0011662
name: pathological gambling
def: "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." [NCIT:P378]
synonym: "compulsive gambling" EXACT [DOID:12399]
synonym: "gambling, pathologic" RELATED [OMIM:606349]
synonym: "pathological gambling" EXACT [DOID:12399]
xref: COHD:436959 {source="MONDO:equivalentTo"}
xref: DOID:12399 {source="MONDO:equivalentTo"}
xref: EFO:1001926 {source="MONDO:equivalentTo"}
xref: ICD10:F63.0 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: ICD9:312.31 {source="MONDO:equivalentTo", source="i2s", source="DOID:12399"}
xref: MESH:D005715 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:12399"}
xref: NCIT:C94335 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:12399"}
xref: OMIM:606349 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: SCTID:18085000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12399"}
is_a: MONDO:0001162 {source="DOID:12399", source="NCIT:C94335", source="linkedlifedata"} ! impulse control disorder
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://identifiers.org/snomedct/192501004
property_value: closeMatch http://identifiers.org/snomedct/284524008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030662
property_value: exactMatch DOID:12399
property_value: exactMatch http://identifiers.org/mesh/D005715
property_value: exactMatch http://identifiers.org/omim/606349
property_value: exactMatch http://identifiers.org/snomedct/18085000
property_value: exactMatch NCIT:C94335

[Term]
id: MONDO:0011663
name: juvenile primary lateral sclerosis
def: "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." [Orphanet:247604]
subset: gard_rare {source="GARD:0004485"}
subset: ordo_disease {source="Orphanet:247604"}
synonym: "JPLS" EXACT [Orphanet:247604]
synonym: "juvenile PLS" EXACT [Orphanet:247604]
synonym: "PLS juvenile" RELATED [GARD:0004485]
synonym: "Pls, juvenile" RELATED [OMIM:606353]
synonym: "PLSJ" RELATED [MONDO:Lexical, OMIM:606353]
synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353]
synonym: "primary lateral sclerosis, juvenile; PLSJ" RELATED [OMIM:606353]
xref: GARD:0004485 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:247604/attributed", source="ORDO:247604/ntbt", source="Orphanet:247604"}
xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e", source="MONDO:ontobio"}
xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e"}
xref: Orphanet:247604 {source="MONDO:equivalentTo", source="OMIM:606353"}
xref: SCTID:717964007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1853396 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e", source="OMIM:606353"}
is_a: MONDO:0018155 {source="DC-OMIM:606353", source="linkedlifedata"} ! lateral sclerosis
property_value: exactMatch http://identifiers.org/mesh/C536416
property_value: exactMatch http://identifiers.org/omim/606353
property_value: exactMatch http://identifiers.org/snomedct/717964007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853396
property_value: exactMatch Orphanet:247604
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis xsd:anyURI {source="GARD:0004485"}

[Term]
id: MONDO:0011664
name: immunodeficiency due to CD25 deficiency
subset: ordo_disease {source="Orphanet:169100"}
synonym: "CD25 deficiency" RELATED [OMIM:606367]
synonym: "IL2RA deficiency" RELATED [OMIM:606367]
synonym: "IMD41" RELATED [MONDO:Lexical, OMIM:606367]
synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED [MONDO:Lexical, OMIM:606367]
synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity; IMD41" RELATED [OMIM:606367]
synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367]
synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100]
xref: ICD10:D81.2 {source="ORDO:169100/attributed", source="ORDO:169100/ntbt", source="Orphanet:169100"}
xref: MESH:C565232 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606367 {source="MONDO:equivalentTo", source="Orphanet:169100", source="ORDO:169100/e"}
xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"}
xref: UMLS:C1853392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606367"}
is_a: MONDO:0015709 {source="Orphanet:169100"} ! immunodeficiency syndrome with autoimmunity
property_value: exactMatch http://identifiers.org/mesh/C565232
property_value: exactMatch http://identifiers.org/omim/606367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853392
property_value: exactMatch Orphanet:169100

[Term]
id: MONDO:0011665
name: obsolete Lennox-Gastaut syndrome
is_obsolete: true
replaced_by: MONDO:0016532

[Term]
id: MONDO:0011666
name: obsolete maturity-onset diabetes of the young
is_obsolete: true
replaced_by: MONDO:0018911

[Term]
id: MONDO:0011667
name: maturity-onset diabetes of the young type 4
def: "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." [NCIT:C129746]
subset: gard_rare {source="GARD:0010659"}
synonym: "diabetes mellitus MODY type 4" RELATED [GARD:0010659]
synonym: "maturity onset diabetes of the Young, type 4" EXACT [NCIT:C129746]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" EXACT []
synonym: "maturity-onset diabetes of the young, type 4" RELATED [MONDO:Lexical, OMIM:606392]
synonym: "maturity-onset diabetes of the young, type 4; MODY4" RELATED [OMIM:606392]
synonym: "MODY insulin promoter factor-1 related" RELATED [GARD:0010659]
synonym: "MODY type 4" EXACT [DOID:0111103]
synonym: "MODY, type 4" RELATED [OMIM:606392]
synonym: "MODY4" EXACT [DOID:0111103, MONDO:Lexical, OMIM:606392]
synonym: "PDX1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PDX1-associated monogenic diabetes" EXACT [NCIT:C129746]
synonym: "type 4 maturity-onset diabetes of the young" RELATED [GARD:0010659]
xref: DOID:0111103 {source="MONDO:equivalentTo"}
xref: GARD:0010659 {source="MONDO:equivalentTo"}
xref: MESH:C563451 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129746 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: OMIM:606392 {source="MONDO:equivalentTo", source="DOID:0111103"}
xref: SCTID:609571007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
is_a: MONDO:0018911 {source="DC-OMIM:606392", source="DOID:0111103", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833382
property_value: exactMatch DOID:0111103
property_value: exactMatch http://identifiers.org/mesh/C563451
property_value: exactMatch http://identifiers.org/omim/606392
property_value: exactMatch http://identifiers.org/snomedct/609571007
property_value: exactMatch NCIT:C129746
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 xsd:anyURI {source="GARD:0010659"}

[Term]
id: MONDO:0011668
name: maturity-onset diabetes of the young type 6
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." [NCIT:C129745]
subset: gard_rare {source="GARD:0010660"}
synonym: "diabetes mellitus MODY type 6" RELATED [GARD:0010660]
synonym: "maturity onset diabetes of the Young, type 6" EXACT [NCIT:C129745]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" EXACT []
synonym: "maturity-onset diabetes of the young, type 6" RELATED [MONDO:Lexical, OMIM:606394]
synonym: "maturity-onset diabetes of the young, type 6; MODY6" RELATED [OMIM:606394]
synonym: "MODY NEUROD1 related" RELATED [GARD:0010660]
synonym: "MODY type 6" EXACT [DOID:0111104]
synonym: "MODY, type 6" RELATED [OMIM:606394]
synonym: "MODY6" EXACT [DOID:0111104, MONDO:Lexical, OMIM:606394]
synonym: "NEUROD1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "NEUROD1-associated monogenic diabetes" EXACT [NCIT:C129745]
synonym: "neurogenic differentiation Factor 1-associated monogenic diabetes" EXACT [NCIT:C129745]
synonym: "type 6 maturity-onset diabetes of the young" RELATED [GARD:0010660]
xref: DOID:0111104 {source="MONDO:equivalentTo"}
xref: GARD:0010660 {source="MONDO:equivalentTo"}
xref: MESH:C565231 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129745 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: OMIM:606394 {source="MONDO:equivalentTo", source="DOID:0111104"}
xref: SCTID:609573005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C1853371 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606394", source="NCIT:C129745"}
is_a: MONDO:0018911 {source="DC-OMIM:606394", source="DOID:0111104", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111104
property_value: exactMatch http://identifiers.org/mesh/C565231
property_value: exactMatch http://identifiers.org/omim/606394
property_value: exactMatch http://identifiers.org/snomedct/609573005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853371
property_value: exactMatch NCIT:C129745
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 xsd:anyURI {source="GARD:0010660"}

[Term]
id: MONDO:0011669
name: hypotonia-cystinuria syndrome
def: "Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." [Orphanet:163690]
comment: Editor note: check this. ORDO has type 1 as a superclass
subset: ordo_disease {source="Orphanet:163690"}
synonym: "cystinuria with mitochondrial disease" EXACT [DOID:0060858, OMIM:606407]
synonym: "HCS" EXACT [Orphanet:163690]
synonym: "homozygous 2P16 deletion syndrome" RELATED [OMIM:606407]
synonym: "homozygous 2P16 deletion syndrome, formerly" RELATED [OMIM:606407]
synonym: "homozygous 2P21 deletion syndrome" RELATED [OMIM:606407]
synonym: "hypotonia-cystinuria syndrome" EXACT [OMIM:606407]
xref: DOID:0060858 {source="MONDO:equivalentTo"}
xref: EFO:0007550 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="Orphanet:163690", source="ORDO:163690/attributed", source="ORDO:163690/ntbt", source="DOID:0060858"}
xref: MESH:C564710 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606407 {source="Orphanet:163690", source="ORDO:163690/e", source="MONDO:equivalentTo", source="DOID:0060858"}
xref: Orphanet:163690 {source="MONDO:equivalentTo", source="OMIM:606407", source="DOID:0060858"}
xref: SCTID:721173005 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0060858", source="MONDOLEX:0011669"} ! syndromic disease
is_a: MONDO:0016538 {source="Orphanet:163690", source="todo - check this"} ! hypotonia-cystinuria syndrome type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848030
property_value: exactMatch DOID:0060858
property_value: exactMatch http://identifiers.org/mesh/C564710
property_value: exactMatch http://identifiers.org/omim/606407
property_value: exactMatch http://identifiers.org/snomedct/721173005
property_value: exactMatch Orphanet:163690

[Term]
id: MONDO:0011670
name: Ehlers-Danlos syndrome due to tenascin-X deficiency
subset: ordo_disease {source="Orphanet:230839"}
synonym: "classical-like EDS" RELATED [GARD:0008507]
synonym: "classical-like Ehlers-Danlos syndrome" RELATED [GARD:0008507]
synonym: "clEDS" RELATED [GARD:0008507]
synonym: "EDS due to TNX deficiency" RELATED [MESH:C536193]
synonym: "EDS due to Tnx deficiency" RELATED [OMIM:606408]
synonym: "EDS, classic-like type" EXACT [Orphanet:230839]
synonym: "EDSCLL" RELATED [OMIM:606408]
synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [MESH:C536193, OMIM:606408]
synonym: "Ehlers-Danlos syndrome, classic-like" RELATED [OMIM:606408]
synonym: "Ehlers-Danlos syndrome, classic-like type" EXACT [Orphanet:230839]
synonym: "Ehlers-Danlos syndrome, classic-like; EDSCLL" RELATED [OMIM:606408]
synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MESH:C536193]
synonym: "TNX deficiency" RELATED [MESH:C536193]
synonym: "Tnx deficiency" RELATED [OMIM:606408]
xref: GARD:0008507 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230839", source="ORDO:230839/attributed", source="ORDO:230839/ntbt"}
xref: MESH:C536193 {source="MONDO:equivalentTo"}
xref: OMIM:606408 {source="Orphanet:230839", source="ORDO:230839/e", source="MONDO:equivalentTo"}
xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"}
xref: UMLS:C1848029 {source="Orphanet:230839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606408", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015216 {source="Orphanet:230839"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015669 {source="Orphanet:230839"} ! rare disease with dentinogenesis imperfecta
is_a: MONDO:0015880 {source="Orphanet:230839"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0020066 {source="MESH:C536193", source="MONDOLEX:0011670", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C536193
property_value: exactMatch http://identifiers.org/omim/606408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848029
property_value: exactMatch Orphanet:230839

[Term]
id: MONDO:0011671
name: Huntington disease-like 2
def: "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." [Orphanet:98934]
subset: ordo_disease {source="Orphanet:98934"}
synonym: "HDL2" EXACT [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934]
synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438]
synonym: "Huntington disease-like 2; HDL2" RELATED [OMIM:606438]
synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934]
synonym: "Huntington's disease-like 2" RELATED [DOID:0090104]
xref: DOID:0090104 {source="MONDO:equivalentTo"}
xref: ICD10:G10 {source="ORDO:98934/attributed", source="ORDO:98934/ntbt", source="Orphanet:98934", source="DOID:0090104"}
xref: MESH:C564708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606438 {source="ORDO:98934/e", source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104"}
xref: Orphanet:98934 {source="OMIM:606438", source="MONDO:equivalentTo", source="DOID:0090104"}
xref: SCTID:721228006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847987 {source="NCBI:mim2gene_medline", source="OMIM:606438", source="MONDO:equivalentTo", source="Orphanet:98934"}
is_a: MONDO:0016987 {source="Orphanet:98934"} ! neuroacanthocytosis
property_value: exactMatch DOID:0090104
property_value: exactMatch http://identifiers.org/mesh/C564708
property_value: exactMatch http://identifiers.org/omim/606438
property_value: exactMatch http://identifiers.org/snomedct/721228006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847987
property_value: exactMatch Orphanet:98934

[Term]
id: MONDO:0011672
name: persistent polyclonal B-cell lymphocytosis
def: "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." [Orphanet:300324]
subset: ordo_disease {source="Orphanet:300324"}
synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445]
synonym: "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" EXACT [Orphanet:300324]
synonym: "persistent polyclonal B-cell lymphocytosis; PPBL" RELATED [OMIM:606445]
synonym: "PPBL" EXACT [MONDO:Lexical, OMIM:606445, Orphanet:300324]
xref: ICD10:I72.8 {source="Orphanet:300324", source="ORDO:300324/ntbt"}
xref: MESH:C564707 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606445 {source="ORDO:300324/e", source="Orphanet:300324", source="MONDO:equivalentTo"}
xref: Orphanet:300324 {source="OMIM:606445", source="MONDO:equivalentTo"}
xref: SCTID:763864008 {source="MONDO:equivalentTo"}
xref: UMLS:C1847973 {source="OMIM:606445", source="NCBI:mim2gene_medline", source="Orphanet:300324", source="MONDO:equivalentTo"}
is_a: MONDO:0015757 {source="Orphanet:300324"} ! lymphoid hemopathy
property_value: exactMatch http://identifiers.org/mesh/C564707
property_value: exactMatch http://identifiers.org/omim/606445
property_value: exactMatch http://identifiers.org/snomedct/763864008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847973
property_value: exactMatch Orphanet:300324

[Term]
id: MONDO:0011673
name: autosomal dominant nonsyndromic deafness 30
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26." [DOID:0110560, PMID:11571554]
synonym: "autosomal dominant deafness 30" EXACT [DOID:0110560]
synonym: "autosomal dominant nonsyndromic deafness type 30" EXACT [DOID:0110560, MONDORULE:2]
synonym: "deafness, autosomal dominant 30" RELATED [MONDO:Lexical, OMIM:606451]
synonym: "deafness, autosomal dominant 30; DFNA30" RELATED [OMIM:606451]
synonym: "DFNA30" EXACT [DOID:0110560, MONDO:Lexical, OMIM:606451]
xref: DOID:0110560 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110560"}
xref: MESH:C564706 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606451 {source="MONDO:equivalentTo", source="DOID:0110560"}
xref: UMLS:C1847972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606451"}
is_a: MONDO:0019587 {source="DC-OMIM:606451", source="DOID:0110560", source="OMIM:606451"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110560
property_value: exactMatch http://identifiers.org/mesh/C564706
property_value: exactMatch http://identifiers.org/omim/606451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847972

[Term]
id: MONDO:0011674
name: Charcot-Marie-Tooth disease dominant intermediate b
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." [Orphanet:100044]
subset: ordo_disease {source="Orphanet:100044"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [DOID:0110197, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate B" RELATED [MONDO:Lexical, OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate B; CMTDIB" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type B" EXACT [MONDORULE:1, OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" EXACT [DOID:0110197]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482]
synonym: "CMTDI1" EXACT [DOID:0110197]
synonym: "Cmtdi1" RELATED [OMIM:606482]
synonym: "CMTDIB" EXACT [DOID:0110197, MONDO:Lexical, OMIM:606482, Orphanet:100044]
synonym: "DI-CMTB" EXACT [DOID:0110197]
synonym: "Di-CMTB" RELATED [OMIM:606482]
synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438]
xref: DOID:0110197 {source="MONDO:equivalentTo"}
xref: GARD:0012438 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:100044", source="ORDO:100044/attributed", source="ORDO:100044/ntbt", source="DOID:0110197"}
xref: OMIM:606482 {source="Orphanet:100044", source="ORDO:100044/e", source="MONDO:equivalentTo", source="DOID:0110197"}
xref: Orphanet:100044 {source="MONDO:equivalentTo", source="OMIM:606482", source="DOID:0110197"}
xref: SCTID:765745007 {source="MONDO:equivalentTo"}
xref: UMLS:CN197338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019548 {source="MONDOLEX:0011674", source="Orphanet:100044"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847902
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847903
property_value: exactMatch DOID:0110197
property_value: exactMatch http://identifiers.org/omim/606482
property_value: exactMatch http://identifiers.org/snomedct/765745007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197338
property_value: exactMatch Orphanet:100044

[Term]
id: MONDO:0011675
name: Charcot-Marie-Tooth disease dominant intermediate a
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." [Orphanet:100043]
subset: ordo_disease {source="Orphanet:100043"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type A" EXACT [DOID:0110202, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate A" RELATED [MONDO:Lexical, OMIM:606483]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate A; CMTDIA" RELATED [OMIM:606483]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate A" EXACT [DOID:0110202]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate a" RELATED [OMIM:606483]
synonym: "CMTDIA" EXACT [DOID:0110202, MONDO:Lexical, OMIM:606483, Orphanet:100043]
synonym: "DI-CMTA" EXACT [DOID:0110202]
synonym: "Di-Cmta" RELATED [OMIM:606483]
xref: DOID:0110202 {source="MONDO:equivalentTo"}
xref: GARD:0012437 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:100043", source="ORDO:100043/attributed", source="ORDO:100043/ntbt", source="DOID:0110202"}
xref: MESH:C564702 {source="MONDO:equivalentTo"}
xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="DOID:0110202", source="ORDO:100043/e"}
xref: Orphanet:100043 {source="MONDO:equivalentTo", source="OMIM:606483", source="DOID:0110202"}
xref: SCTID:765744006 {source="MONDO:equivalentTo"}
xref: UMLS:C1847896 {source="Orphanet:100043", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606483"}
is_a: MONDO:0019548 {source="MONDOLEX:0011675", source="Orphanet:100043"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110202
property_value: exactMatch http://identifiers.org/mesh/C564702
property_value: exactMatch http://identifiers.org/omim/606483
property_value: exactMatch http://identifiers.org/snomedct/765744006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847896
property_value: exactMatch Orphanet:100043

[Term]
id: MONDO:0011676
name: PHACE syndrome
def: "PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." [Orphanet:42775]
subset: ordo_malformation_syndrome {source="Orphanet:42775"}
synonym: "aortic aneurysm, giant congenital" RELATED [OMIM:606519]
synonym: "P-CIIS" RELATED [GARD:0008338]
synonym: "pascual-Castroviejo syndrome type 2" EXACT [Orphanet:42775]
synonym: "pascual-Castroviejo type II syndrome" RELATED [GARD:0008338]
synonym: "PHACE association" RELATED [OMIM:606519]
synonym: "Phaces association" RELATED [OMIM:606519]
synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338]
xref: GARD:0008338 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q28.8 {source="Orphanet:42775", source="ORDO:42775/attributed", source="ORDO:42775/ntbt"}
xref: MedDRA:10068032 {source="ORDO:42775/e", source="Orphanet:42775"}
xref: OMIM:606519 {source="ORDO:42775/e", source="Orphanet:42775", source="MONDO:equivalentTo"}
xref: Orphanet:42775 {source="MONDO:equivalentTo", source="OMIM:606519"}
xref: UMLS:C1847874 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:42775", source="MONDO:equivalentTo", source="OMIM:606519"}
is_a: MONDO:0015506 {source="Orphanet:42775"} ! rare syndrome with cardiac malformations
is_a: MONDO:0017118 {source="Orphanet:42775"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:42775"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: disease_has_feature MONDO:0015145 {source="Orphanet:42775"} ! neurovascular malformation
relationship: excluded_subClassOf MONDO:0015145 {source="Orphanet:42775"} ! neurovascular malformation
relationship: excluded_subClassOf MONDO:0018718 {source="Orphanet:42775"} ! vascular tumor with associated anomalies
relationship: excluded_subClassOf MONDO:0018729 {source="MONDO:Redundant", source="Orphanet:42775"} ! genetic vascular tumor
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:42775"} ! Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0020182 {source="Orphanet:42775"} ! palpebral tumor with a vascular malformation
property_value: exactMatch http://identifiers.org/meddra/10068032
property_value: exactMatch http://identifiers.org/omim/606519
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242617
property_value: exactMatch Orphanet:42775

[Term]
id: MONDO:0011677
name: Megarbane syndrome
subset: gard_rare {source="GARD:0009979"}
synonym: "Megarbane syndrome" EXACT [OMIM:606527]
synonym: "short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation" RELATED [GARD:0009979]
xref: GARD:0009979 {source="MONDO:equivalentTo"}
xref: MESH:C536145 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606527 {source="MONDO:equivalentTo"}
xref: UMLS:C1847871 {source="OMIM:606527", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536145
property_value: exactMatch http://identifiers.org/omim/606527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847871
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome xsd:anyURI {source="GARD:0009979"}

[Term]
id: MONDO:0011678
name: homozygous 11P15-p14 deletion syndrome
synonym: "homozygous 11P15-p14 deletion syndrome" EXACT [OMIM:606528]
synonym: "hyperinsulinism, infantile, with enteropathy and deafness" RELATED [OMIM:606528]
xref: MESH:C564701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606528 {source="MONDO:equivalentTo"}
xref: UMLS:C1847866 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606528"}
is_a: MONDO:0000761 {source="DC-OMIM:606528"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch http://identifiers.org/mesh/C564701
property_value: exactMatch http://identifiers.org/omim/606528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847866

[Term]
id: MONDO:0011679
name: craniosynostosis syndrome, autosomal recessive
def: "Autosomal recessive form of craniosynostosis." [MONDO:patterns/autosomal_recessive]
synonym: "autosomal recessive craniosynostosis" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis syndrome, autosomal recessive" EXACT [OMIM:606529]
synonym: "craniosynostosis, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive]
xref: MESH:C564700 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606529 {source="MONDO:equivalentTo"}
xref: UMLS:C1847865 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606529"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564700", source="MONDO:Redundant", source="MONDOLEX:0011679"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C564700
property_value: exactMatch http://identifiers.org/omim/606529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847865

[Term]
id: MONDO:0011680
name: autosomal recessive congenital ichthyosis 3
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI3" EXACT [DOID:0060711, MONDO:Lexical, OMIM:606545]
synonym: "autosomal recessive congenital ichthyosis type 3" EXACT [DOID:0060711, MONDORULE:1]
synonym: "collodion baby, self-healing" RELATED [OMIM:606545]
synonym: "ichthyosis, congenital, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:606545]
synonym: "ichthyosis, congenital, autosomal recessive 3; ARCI3" RELATED [OMIM:606545]
synonym: "ichthyosis, congenital, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:606545]
synonym: "ichthyosis, lamellar, 5" RELATED [OMIM:606545]
synonym: "ichthyosis, lamellar, 5, formerly" RELATED [OMIM:606545]
synonym: "lamellar ichthyosis 5" EXACT [DOID:0060711]
xref: DOID:0060711 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060711"}
xref: OMIM:606545 {source="MONDO:equivalentTo", source="DOID:0060711"}
is_a: MONDO:0017267 {source="ORDO:281122/btnt"} ! self-healing collodion baby
is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis
is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847849
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3539888
property_value: exactMatch DOID:0060711
property_value: exactMatch http://identifiers.org/omim/606545

[Term]
id: MONDO:0011681
name: episodic ataxia type 4
def: "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." [Orphanet:79136]
subset: ordo_disease {source="Orphanet:79136"}
synonym: "ataxia, periodic vestibulocerebellar" RELATED [OMIM:606552]
synonym: "EA4" RELATED [MONDO:Lexical, OMIM:606552]
synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552]
synonym: "episodic ataxia, type 4; EA4" RELATED [OMIM:606552]
synonym: "PATX" EXACT [Orphanet:79136]
synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136]
xref: DOID:0050992 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:79136/attributed", source="ORDO:79136/ntbt", source="Orphanet:79136"}
xref: MESH:C564698 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606552 {source="DOID:0050992", source="MONDO:equivalentTo", source="ORDO:79136/e", source="Orphanet:79136"}
xref: Orphanet:79136 {source="MONDO:equivalentTo", source="OMIM:606552"}
xref: SCTID:718754008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606552", source="Orphanet:79136"}
is_a: MONDO:0016227 {source="DOID:0050992", source="OMIM:606552", source="Orphanet:79136", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050992
property_value: exactMatch http://identifiers.org/mesh/C564698
property_value: exactMatch http://identifiers.org/omim/606552
property_value: exactMatch http://identifiers.org/snomedct/718754008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847843
property_value: exactMatch Orphanet:79136

[Term]
id: MONDO:0011682
name: episodic ataxia type 3
def: "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." [Orphanet:79135]
subset: ordo_disease {source="Orphanet:79135"}
synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [OMIM:606554]
synonym: "EA3" RELATED [MONDO:Lexical, OMIM:606554]
synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554]
synonym: "episodic ataxia, type 3; EA3" RELATED [OMIM:606554]
synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135]
xref: DOID:0050991 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:79135/attributed", source="ORDO:79135/ntbt", source="Orphanet:79135"}
xref: MESH:C564697 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606554 {source="DOID:0050991", source="MONDO:equivalentTo", source="ORDO:79135/e", source="Orphanet:79135"}
xref: Orphanet:79135 {source="MONDO:equivalentTo", source="OMIM:606554"}
xref: SCTID:718755009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79135", source="OMIM:606554"}
is_a: MONDO:0016227 {source="DOID:0050991", source="OMIM:606554", source="Orphanet:79135", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050991
property_value: exactMatch http://identifiers.org/mesh/C564697
property_value: exactMatch http://identifiers.org/omim/606554
property_value: exactMatch http://identifiers.org/snomedct/718755009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847839
property_value: exactMatch Orphanet:79135

[Term]
id: MONDO:0011683
name: oculocutaneous albinism type 4
def: "Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79435]
subset: ordo_disease {source="Orphanet:79435"}
synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574]
synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574]
synonym: "albinism, oculocutaneous, type IV; OCA4" RELATED [OMIM:606574]
synonym: "OCA4" EXACT [DOID:0070098, MONDO:Lexical, OMIM:606574, Orphanet:79435]
synonym: "oculocutaneous albinism caused by mutation in SLC45A2" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098]
synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574]
synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070098 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:79435", source="ORDO:79435/attributed", source="ORDO:79435/ntbt"}
xref: MESH:C564696 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="ORDO:79435/e"}
xref: Orphanet:79435 {source="MONDO:equivalentTo", source="OMIM:606574"}
xref: SCTID:715632003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847836 {source="Orphanet:79435", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606574"}
is_a: MONDO:0018910 {source="DC-OMIM:606574", source="DOID:0070098", source="MESH:C564696", source="MONDO:Redundant", source="OMIM:606574", source="Orphanet:79435", source="linkedlifedata"} ! oculocutaneous albinism
property_value: exactMatch DOID:0070098
property_value: exactMatch http://identifiers.org/mesh/C564696
property_value: exactMatch http://identifiers.org/omim/606574
property_value: exactMatch http://identifiers.org/snomedct/715632003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847836
property_value: exactMatch Orphanet:79435

[Term]
id: MONDO:0011684
name: vitiligo-associated multiple autoimmune disease susceptibility 1
subset: predisposition
synonym: "systemic lupus erythematosus, vitiligo-related" RELATED [OMIM:606579]
synonym: "VAMAS1" RELATED [MONDO:Lexical, OMIM:606579]
synonym: "vitiligo" RELATED [OMIM:606579]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 1" EXACT [MONDO:Lexical, OMIM:606579]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1" RELATED [OMIM:606579]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility type 1" EXACT [MONDORULE:1, OMIM:606579]
xref: OMIM:606579 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="OMIM:606579", source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1847835 {source="OMIM:606579", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DC-OMIM:606579", source="OMIM:606579"} ! autoimmune disease
property_value: closeMatch Orphanet:3435
property_value: exactMatch http://identifiers.org/omim/606579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847835
property_value: exactMatch Orphanet:247871

[Term]
id: MONDO:0011685
name: polysubstance abuse, susceptibility to
subset: predisposition
synonym: "drug addiction, susceptibility to" RELATED [OMIM:606581]
synonym: "polysubstance abuse, susceptibility to" EXACT [MONDO:Lexical, OMIM:606581]
synonym: "polysubstance abuse, susceptibility to; PSAB" RELATED [OMIM:606581]
synonym: "PSAB" RELATED [MONDO:Lexical, OMIM:606581]
xref: OMIM:606581 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847831
property_value: exactMatch http://identifiers.org/omim/606581

[Term]
id: MONDO:0011686
name: DNA ligase IV deficiency
def: "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." [Orphanet:99812]
subset: ordo_disease {source="Orphanet:99812"}
synonym: "DNA ligase IV deficiency" EXACT [Orphanet:99812]
synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593]
synonym: "ligase 4 syndrome" EXACT [Orphanet:99812]
xref: DOID:0060021 {source="MONDO:equivalentTo"}
xref: ICD10:D81.1 {source="Orphanet:99812", source="ORDO:99812/attributed", source="ORDO:99812/ntbt"}
xref: MESH:C564694 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122657 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:606593 {source="DOID:0060021", source="ORDO:99812/e", source="Orphanet:99812", source="MONDO:equivalentTo"}
xref: Orphanet:99812 {source="MONDO:equivalentTo", source="OMIM:606593"}
xref: SCTID:724177005 {source="MONDO:equivalentTo"}
xref: UMLS:C1847827 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:99812", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606593", source="NCIT:C122657"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122657", source="indirect"} ! syndromic disease
is_a: MONDO:0015945 {source="Orphanet:99812"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018814 {source="Orphanet:99812"} ! non-severe combined immunodeficiency
is_a: MONDO:0043008 {source="Orphanet:99812"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060021
property_value: exactMatch http://identifiers.org/mesh/C564694
property_value: exactMatch http://identifiers.org/omim/606593
property_value: exactMatch http://identifiers.org/snomedct/724177005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847827
property_value: exactMatch NCIT:C122657
property_value: exactMatch Orphanet:99812

[Term]
id: MONDO:0011687
name: Charcot-Marie-Tooth disease axonal type 2F
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." [Orphanet:99940]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99940"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163]
synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2F" RELATED [GARD:0009194]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical, OMIM:606595]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2F; CMT2F" RELATED [OMIM:606595]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" RELATED [GARD:0009194, OMIM:606595]
synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [DOID:0110163]
synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [DOID:0110163]
synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194, OMIM:606595]
synonym: "CMT 2F" RELATED [GARD:0009194]
synonym: "CMT2F" EXACT [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940]
synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110163 {source="MONDO:equivalentTo"}
xref: GARD:0009194 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99940", source="DOID:0110163", source="ORDO:99940/attributed", source="ORDO:99940/ntbt"}
xref: MESH:C535413 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="ORDO:99940/e"}
xref: Orphanet:99940 {source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="OMIM:606595"}
xref: SCTID:719510006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1847823 {source="Orphanet:99940", source="MEDGEN:kboom-pr98-c99", source="GARD:0009194", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606595"}
xref: UMLS:C4304675 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110163", source="MONDO:Redundant", source="Orphanet:99940"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110163
property_value: exactMatch http://identifiers.org/mesh/C535413
property_value: exactMatch http://identifiers.org/omim/606595
property_value: exactMatch http://identifiers.org/snomedct/719510006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304675
property_value: exactMatch Orphanet:99940
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f xsd:anyURI {source="GARD:0009194"}

[Term]
id: MONDO:0011688
name: muscular dystrophy-dystroglycanopathy type B5
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." [DOID:0110635, PMID:11592034, PMID:14652796]
synonym: "congenital muscular dystrophy 1C" EXACT [DOID:0110635]
synonym: "FKRP-related congenital muscular dystrophy" EXACT [DOID:0110635]
synonym: "MDC1C" EXACT [DOID:0110635]
synonym: "MDDGB5" EXACT [DOID:0110635, MONDO:Lexical, OMIM:606612]
synonym: "muscular dystrophy, congenital, 1C" RELATED [OMIM:606612]
synonym: "muscular dystrophy, congenital, FKRP-related" RELATED [OMIM:606612]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT [DOID:0110635, MONDO:Lexical, OMIM:606612]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5" RELATED [OMIM:606612]
xref: DOID:0110635 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="DOID:0110635"}
xref: MESH:C564691 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606612 {source="DOID:0110635", source="MONDO:equivalentTo"}
xref: Orphanet:52428 {source="DOID:0110635", source="OMIM:606612", source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1847759 {source="OMIM:606612", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000172 {source="DC-OMIM:606612", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B
property_value: exactMatch DOID:0110635
property_value: exactMatch http://identifiers.org/mesh/C564691
property_value: exactMatch http://identifiers.org/omim/606612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847759
property_value: exactMatch Orphanet:52428

[Term]
id: MONDO:0011689
name: dyslexia, susceptibility to, 6
subset: predisposition
synonym: "dyslexia, susceptibility to, 6" RELATED [OMIM:606616]
synonym: "dyslexia, susceptibility to, 6; DYX6" RELATED [OMIM:606616]
synonym: "DYX6" EXACT [MONDO:Lexical, OMIM:606616]
xref: OMIM:606616 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:606616"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847757
property_value: exactMatch http://identifiers.org/omim/606616

[Term]
id: MONDO:0011690
name: Camurati-Engelmann disease, type 2
def: "Camurati-Engelmann Disease not associated with TGFB1" [https://en.wikipedia.org/wiki/Camurati%E2%80%93Engelmann_disease#Classification, https://github.com/monarch-initiative/mondo/issues/163]
subset: n_of_one
subset: speculative
synonym: "CAEND2" RELATED [OMIM:606631]
synonym: "Camurati Engelmann disease, type 2" RELATED [GARD:0008748]
synonym: "Camurati-Engelmann disease, type 2" EXACT [OMIM:606631]
synonym: "progressive diaphyseal dysplasia with striations of the bones" RELATED [GARD:0008748]
xref: GARD:0008748 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537978 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606631 {source="MONDO:equivalentTo"}
xref: UMLS:C2931683 {source="MONDO:equivalentTo", source="OMIM:606631"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0007542 {source="DC-OMIM:606631", source="MONDO:cjm"} ! Camurati-Engelmann disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847746
property_value: exactMatch http://identifiers.org/mesh/C537978
property_value: exactMatch http://identifiers.org/omim/606631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931683

[Term]
id: MONDO:0011691
name: amyotrophic lateral sclerosis type 3
subset: gard_rare {source="GARD:0010501"}
synonym: "ALS3" RELATED [DOID:0060195, MONDO:Lexical, OMIM:606640]
synonym: "amyotrophic lateral sclerosis 3" EXACT [DOID:0060195, MONDO:Lexical, OMIM:606640]
synonym: "amyotrophic lateral sclerosis 3; ALS3" RELATED [OMIM:606640]
xref: DOID:0060195 {source="MONDO:equivalentTo"}
xref: GARD:0010501 {source="MONDO:equivalentTo"}
xref: MESH:C564688 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606640 {source="MONDO:equivalentTo", source="DOID:0060195"}
is_a: MONDO:0004976 {source="DC-OMIM:606640", source="DOID:0060195", source="MESH:C564688", source="MONDOLEX:0011691", source="OMIM:606640"} ! amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847735
property_value: exactMatch DOID:0060195
property_value: exactMatch http://identifiers.org/mesh/C564688
property_value: exactMatch http://identifiers.org/omim/606640
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3 xsd:anyURI {source="GARD:0010501"}

[Term]
id: MONDO:0011692
name: IBGC2
synonym: "basal ganglia calcification, idiopathic, 2" RELATED [MONDO:Lexical, OMIM:606656]
synonym: "basal ganglia calcification, idiopathic, 2; IBGC2" RELATED [OMIM:606656]
synonym: "IBGC2" EXACT [MONDO:Lexical, OMIM:606656]
xref: MESH:C537657 {source="MONDO:equivalentTo"}
xref: OMIM:606656 {source="MONDO:equivalentTo"}
xref: UMLS:C1847731 {source="OMIM:606656", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:606656", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/mesh/C537657
property_value: exactMatch http://identifiers.org/omim/606656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847731

[Term]
id: MONDO:0011693
name: glaucoma, normal tension, susceptibility to
subset: predisposition
synonym: "glaucoma, normal pressure, susceptibility to" RELATED [OMIM:606657]
synonym: "glaucoma, normal tension, susceptibility to" EXACT [OMIM:606657]
synonym: "NTG" RELATED [OMIM:606657]
xref: OMIM:606657 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:606657"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0006837 ! low tension glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847730
property_value: exactMatch http://identifiers.org/omim/606657

[Term]
id: MONDO:0011694
name: spinocerebellar ataxia type 15/16
def: "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." [Orphanet:98769]
comment: In orphanet, SCA16 is obsoleted in favor of 15/16
subset: ordo_disease {source="Orphanet:98769"}
synonym: "SCA15" RELATED [MONDO:Lexical, OMIM:606658]
synonym: "SCA15/16" EXACT [Orphanet:98769]
synonym: "SCA16 (formerly)" RELATED [GARD:0010477]
synonym: "spinocerebellar ataxia 15" RELATED [MONDO:Lexical, OMIM:606658]
synonym: "spinocerebellar ataxia 15; SCA15" RELATED [OMIM:606658]
synonym: "spinocerebellar ataxia 16" RELATED [OMIM:606658]
synonym: "spinocerebellar ataxia 16 (formerly)" RELATED [GARD:0010477]
synonym: "spinocerebellar ataxia 16, formerly" RELATED [OMIM:606658]
synonym: "spinocerebellar ataxia type 15" EXACT [MONDORULE:2, OMIM:606658]
synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299]
xref: DOID:0050965 {source="MONDO:equivalentTo"}
xref: GARD:0010477 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="ORDO:98769/attributed", source="ORDO:98769/ntbt", source="Orphanet:98769"}
xref: MESH:C564685 {source="MONDO:equivalentTo"}
xref: OMIM:606658 {source="ORDO:98769/e", source="MONDO:equivalentTo", source="DOID:0050965"}
xref: Orphanet:98769 {source="MONDO:equivalentTo"}
xref: SCTID:716724006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1847725 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:606658", source="MONDO:equivalentTo"}
xref: UMLS:C4274322 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98769"} ! autosomal dominant cerebellar ataxia type I
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676005
property_value: exactMatch DOID:0050965
property_value: exactMatch http://identifiers.org/mesh/C564685
property_value: exactMatch http://identifiers.org/omim/606658
property_value: exactMatch http://identifiers.org/snomedct/716724006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274322
property_value: exactMatch Orphanet:98769

[Term]
id: MONDO:0011695
name: melanoma, uveal, susceptibility to, 1
subset: predisposition
synonym: "melanoma, uveal, susceptibility to, 1" EXACT [OMIM:606660]
synonym: "melanoma, uveal, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606660]
synonym: "Uvm1" RELATED [OMIM:606660]
xref: OMIM:606660 {source="MONDO:equivalentTo"}
is_a: MONDO:0006486 {source="DC-OMIM:606660"} ! uveal melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847724
property_value: exactMatch http://identifiers.org/omim/606660

[Term]
id: MONDO:0011696
name: melanoma, uveal, susceptibility to, 2
subset: predisposition
synonym: "melanoma, uveal, susceptibility to, 2" EXACT [OMIM:606661]
synonym: "melanoma, uveal, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606661]
synonym: "Uvm2" RELATED [OMIM:606661]
xref: OMIM:606661 {source="MONDO:equivalentTo"}
is_a: MONDO:0006486 {source="DC-OMIM:606661"} ! uveal melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847723
property_value: exactMatch http://identifiers.org/omim/606661

[Term]
id: MONDO:0011697
name: Waardenburg syndrome type 2C
def: "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23." [DOID:0110951, PMID:11810298, PMID:20127975]
synonym: "Waardenburg syndrome type IIC" EXACT [DOID:0110951]
synonym: "Waardenburg syndrome, type 2C" RELATED [MONDO:Lexical, OMIM:606662]
synonym: "Waardenburg syndrome, type 2C; WS2C" RELATED [OMIM:606662]
synonym: "WS2C" EXACT [DOID:0110951, MONDO:Lexical, OMIM:606662]
xref: DOID:0110951 {source="MONDO:equivalentTo"}
xref: MESH:C564684 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606662 {source="DOID:0110951", source="MONDO:equivalentTo"}
xref: UMLS:C1847722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606662"}
is_a: MONDO:0019517 {source="MONDO:cjm", source="MONDOLEX:0011697"} ! Waardenburg syndrome type 2
property_value: exactMatch DOID:0110951
property_value: exactMatch http://identifiers.org/mesh/C564684
property_value: exactMatch http://identifiers.org/omim/606662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847722

[Term]
id: MONDO:0011698
name: glycine N-methyltransferase deficiency
def: "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene . Inheritance is autosomal recessive . Treatment is not needed in most cases." [https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency]
subset: gard_rare {source="GARD:0010764"}
subset: ordo_disease {source="Orphanet:289891"}
synonym: "Glycine N-methyltransferase deficiency" EXACT [Orphanet:289891]
synonym: "glycine N-methyltransferase deficiency" EXACT [OMIM:606664]
synonym: "GNMT deficiency" EXACT [DOID:0111037, OMIM:606664]
synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037]
synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891]
xref: DOID:0111037 {source="MONDO:equivalentTo"}
xref: GARD:0010764 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:289891/attributed", source="ORDO:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"}
xref: OMIM:606664 {source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037", source="ORDO:289891/e"}
xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"}
xref: SCTID:763720007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606664", source="Orphanet:289891", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000351 {source="DOID:0111037"} ! disorder of methionine catabolism
property_value: exactMatch DOID:0111037
property_value: exactMatch http://identifiers.org/omim/606664
property_value: exactMatch http://identifiers.org/snomedct/763720007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847720
property_value: exactMatch Orphanet:289891
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency xsd:anyURI {source="GARD:0010764"}

[Term]
id: MONDO:0011699
name: inflammatory bowel disease 8
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p." [DOID:0110904, PMID:11752413]
synonym: "IBD8" EXACT [DOID:0110904, MONDO:Lexical, OMIM:606668]
synonym: "inflammatory bowel disease 8" EXACT [MONDO:Lexical, OMIM:606668]
synonym: "inflammatory bowel disease 8; IBD8" RELATED [OMIM:606668]
synonym: "inflammatory bowel disease type 8" EXACT [DOID:0110904, MONDORULE:1]
xref: DOID:0110904 {source="MONDO:equivalentTo"}
xref: MESH:C564682 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606668 {source="MONDO:equivalentTo", source="DOID:0110904"}
xref: UMLS:C1847719 {source="OMIM:606668", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:606668", source="DOID:0110904", source="MESH:C564682", source="OMIM:606668"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110904
property_value: exactMatch http://identifiers.org/mesh/C564682
property_value: exactMatch http://identifiers.org/omim/606668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847719

[Term]
id: MONDO:0011700
name: inflammatory bowel disease 6
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13." [DOID:0110907, PMID:10777714]
synonym: "IBD6" EXACT [DOID:0110907, MONDO:Lexical, OMIM:606674]
synonym: "inflammatory bowel disease 6" EXACT [MONDO:Lexical, OMIM:606674]
synonym: "inflammatory bowel disease 6; IBD6" RELATED [OMIM:606674]
synonym: "inflammatory bowel disease type 6" EXACT [DOID:0110907, MONDORULE:1]
xref: DOID:0110907 {source="MONDO:equivalentTo"}
xref: MESH:C564681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606674 {source="MONDO:equivalentTo", source="DOID:0110907"}
xref: UMLS:C1847692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606674"}
is_a: MONDO:0005265 {source="DC-OMIM:606674", source="DOID:0110907", source="MESH:C564681", source="OMIM:606674"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110907
property_value: exactMatch http://identifiers.org/mesh/C564681
property_value: exactMatch http://identifiers.org/omim/606674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847692

[Term]
id: MONDO:0011701
name: inflammatory bowel disease 4
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12." [DOID:0110903, PMID:10747815]
synonym: "IBD4" EXACT [DOID:0110903, MONDO:Lexical, OMIM:606675]
synonym: "inflammatory bowel disease 4" EXACT [MONDO:Lexical, OMIM:606675]
synonym: "inflammatory bowel disease 4; IBD4" RELATED [OMIM:606675]
synonym: "inflammatory bowel disease type 4" EXACT [DOID:0110903, MONDORULE:1]
xref: DOID:0110903 {source="MONDO:equivalentTo"}
xref: MESH:C564680 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606675 {source="DOID:0110903", source="MONDO:equivalentTo"}
xref: UMLS:C1847691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606675"}
is_a: MONDO:0005265 {source="DC-OMIM:606675", source="DOID:0110903", source="MESH:C564680", source="OMIM:606675"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110903
property_value: exactMatch http://identifiers.org/mesh/C564680
property_value: exactMatch http://identifiers.org/omim/606675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847691

[Term]
id: MONDO:0011702
name: dilated cardiomyopathy 1L
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1L" RELATED [MONDO:Lexical, OMIM:606685]
synonym: "cardiomyopathy, dilated, 1L; CMD1L" RELATED [OMIM:606685]
synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4, OMIM:606685]
synonym: "CMD1L" EXACT [DOID:0110436, MONDO:Lexical, OMIM:606685]
synonym: "dilated cardiomyopathy type 1L" EXACT [DOID:0110436, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SGCD" EXACT [MONDO:design_pattern]
synonym: "SGCD familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110436 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110436"}
xref: MESH:C564679 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606685 {source="DOID:0110436", source="MONDO:equivalentTo"}
xref: UMLS:C1847667 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606685"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110436
property_value: exactMatch http://identifiers.org/mesh/C564679
property_value: exactMatch http://identifiers.org/omim/606685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847667

[Term]
id: MONDO:0011703
name: spongiform encephalopathy with neuropsychiatric features
synonym: "spongiform encephalopathy with neuropsychiatric features" EXACT [OMIM:606688]
xref: MESH:C564678 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606688 {source="MONDO:equivalentTo"}
xref: UMLS:C1847650 {source="OMIM:606688", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017234 ! inherited prion disease
property_value: exactMatch http://identifiers.org/mesh/C564678
property_value: exactMatch http://identifiers.org/omim/606688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847650

[Term]
id: MONDO:0011704
name: GLC1B
synonym: "glaucoma 1, open angle, B" RELATED [MONDO:Lexical, OMIM:606689]
synonym: "glaucoma 1, open angle, B; GLC1B" RELATED [OMIM:606689]
synonym: "GLC1B" EXACT [MONDO:Lexical, OMIM:606689]
xref: OMIM:606689 {source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="OMIM:606689"} ! open-angle glaucoma
is_a: MONDO:0020366 ! congenital glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415091
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847649
property_value: exactMatch http://identifiers.org/omim/606689

[Term]
id: MONDO:0011705
name: lymphangioleiomyomatosis
def: "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." [NCIT:C3725]
subset: gard_rare {source="GARD:0003319"}
subset: ordo_disease {source="Orphanet:538"}
synonym: "LAM" RELATED [MONDO:Lexical, OMIM:606690, Orphanet:538]
synonym: "lung lymphangioleiomyomatosis" NARROW [DOID:3319]
synonym: "lymphangio-myomatosis" RELATED [GARD:0003319]
synonym: "lymphangioleiomyomatosis" EXACT [MONDO:Lexical, NCIT:C3725, OMIM:606690]
synonym: "lymphangioleiomyomatosis; LAM" RELATED [OMIM:606690]
synonym: "lymphangiomyomatosis" EXACT [CSP2005:4009-0064, DOID:3319, NCIT:C3725, OMIM:606690]
synonym: "pulmonary lymphangioleiomyomatosis" NARROW [DOID:3319]
xref: ICD10:J84.81 {source="MONDO:equivalentTo"}
xref: ICDO:9174/1 {source="NCIT:C3725"}
xref: NCIT:C3725 {source="MONDO:kboom-pr-0.88/0.70/0.66", source="MONDO:equivalentTo"}
is_a: MONDO:0006359 {source="NCIT:C3725"} ! neoplasm with perivascular epithelioid cell differentiation
property_value: exactMatch NCIT:C3725
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis xsd:anyURI {source="GARD:0003319"}

[Term]
id: MONDO:0011706
name: Kufor-Rakeb syndrome
def: "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." [Orphanet:306674]
subset: clingen
subset: ordo_disease {source="Orphanet:306674"}
synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [DOID:0060556]
synonym: "autosomal recessive Parkinson disease 9" EXACT [DOID:0060556]
synonym: "ceroid lipofuscinosis, neuronal, 12" RELATED [OMIM:606693]
synonym: "KRPPD" RELATED [GARD:0009174]
synonym: "KRS" RELATED [MONDO:Lexical, OMIM:606693]
synonym: "Kufor-Rakeb syndrome" EXACT [MONDO:Lexical, OMIM:606693]
synonym: "Kufor-Rakeb syndrome; KRS" RELATED [OMIM:606693]
synonym: "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia" RELATED [OMIM:606693]
synonym: "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia" RELATED [GARD:0009174]
synonym: "park 9" RELATED [GARD:0009174]
synonym: "PARK9" EXACT [Orphanet:306674]
synonym: "Parkinson disease 9, autosomal recessive" RELATED [OMIM:606693]
synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMIM:606693]
synonym: "Parkinson disease type 9" RELATED [GARD:0009174]
xref: DOID:0060556 {source="MONDO:equivalentTo"}
xref: GARD:0009174 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="ORDO:306674/attributed", source="ORDO:306674/ntbt", source="Orphanet:306674"}
xref: MESH:C537177 {source="DOID:0060556", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606693 {source="DOID:0060556", source="MONDO:equivalentTo", source="ORDO:306674/e", source="Orphanet:306674"}
xref: Orphanet:306674 {source="DOID:0060556", source="MONDO:equivalentTo", source="OMIM:606693"}
is_a: MONDO:0000828 {source="DOID:0060556"} ! juvenile-onset Parkinson disease
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017661 {source="Orphanet:306674"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0018307 {source="Orphanet:306674"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0020261 {source="Orphanet:306674"} ! neurological disease with abnormal eye movements
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3715048
property_value: exactMatch DOID:0060556
property_value: exactMatch http://identifiers.org/mesh/C537177
property_value: exactMatch http://identifiers.org/omim/606693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847640
property_value: exactMatch Orphanet:306674

[Term]
id: MONDO:0011707
name: familial dyskinesia and facial myokymia
def: "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." [Orphanet:324588]
subset: ordo_disease {source="Orphanet:324588"}
synonym: "ADCY5-related dyskinesia" RELATED [GARD:0012722]
synonym: "dyskinesia, familial, with facial myokymia" RELATED [MONDO:Lexical, OMIM:606703]
synonym: "dyskinesia, familial, with facial myokymia; FDFM" RELATED [OMIM:606703]
synonym: "FDFM" EXACT [MONDO:Lexical, OMIM:606703, Orphanet:324588]
xref: GARD:0012722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G51.4 {source="MONDO:relatedTo", source="Orphanet:324588", source="ORDO:324588/attributed", source="ORDO:324588/ntbt"}
xref: MESH:C564676 {source="MONDO:equivalentTo"}
xref: OMIM:606703 {source="ORDO:324588/e", source="Orphanet:324588", source="MONDO:equivalentTo"}
xref: Orphanet:324588 {source="OMIM:606703", source="MONDO:equivalentTo"}
xref: SCTID:763352005 {source="MONDO:equivalentTo"}
xref: UMLS:C1847627 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:324588", source="OMIM:606703", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017657 {source="Orphanet:324588"} ! rare paroxysmal movement disorder
property_value: exactMatch http://identifiers.org/mesh/C564676
property_value: exactMatch http://identifiers.org/omim/606703
property_value: exactMatch http://identifiers.org/snomedct/763352005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847627
property_value: exactMatch Orphanet:324588

[Term]
id: MONDO:0011708
name: autosomal dominant nonsyndromic deafness 36
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal dominant deafness 36" EXACT [DOID:0110563]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 36" EXACT [DOID:0110563, MONDORULE:2]
synonym: "deafness, autosomal dominant 36" RELATED [MONDO:Lexical, OMIM:606705]
synonym: "deafness, autosomal dominant 36; DFNA36" RELATED [OMIM:606705]
synonym: "deafness, autosomal dominant type 36" EXACT [MONDORULE:2, OMIM:606705]
synonym: "DFNA36" EXACT [DOID:0110563, MONDO:Lexical, OMIM:606705]
synonym: "TMC1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110563 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110563"}
xref: MESH:C564675 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606705 {source="MONDO:equivalentTo", source="DOID:0110563"}
xref: UMLS:C1847626 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606705"}
is_a: MONDO:0019587 {source="DC-OMIM:606705", source="DOID:0110563", source="MONDO:Redundant", source="OMIM:606705"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110563
property_value: exactMatch http://identifiers.org/mesh/C564675
property_value: exactMatch http://identifiers.org/omim/606705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847626

[Term]
id: MONDO:0011709
name: split hand-foot malformation 5
def: "Split-hand/foot malformation mapped to chromosome 2q31." [NCIT:C75002]
synonym: "SHFM5" EXACT [DOID:0090022, MONDO:Lexical, OMIM:606708]
synonym: "split hand-foot malformation type 5" EXACT [DOID:0090022, MONDORULE:1]
synonym: "split-hand/foot malformation 5" RELATED [MONDO:Lexical, OMIM:606708]
synonym: "split-hand/foot malformation 5; SHFM5" RELATED [OMIM:606708]
synonym: "split-hand/foot malformation type 5" EXACT [NCIT:C75002]
xref: DOID:0090022 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.6 {source="DOID:0090022"}
xref: MESH:C564674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:606708 {source="DOID:0090022", source="MONDO:equivalentTo"}
xref: UMLS:C1847622 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75002", source="OMIM:606708"}
is_a: MONDO:0016576 {source="DOID:0090022", source="NCIT:C75002", source="OMIM:606708"} ! split hand-foot malformation
property_value: exactMatch DOID:0090022
property_value: exactMatch http://identifiers.org/mesh/C564674
property_value: exactMatch http://identifiers.org/omim/606708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847622
property_value: exactMatch NCIT:C75002

[Term]
id: MONDO:0011710
name: specific language impairment 1
synonym: "SLI1" EXACT [MONDO:Lexical, OMIM:606711]
synonym: "specific language impairment 1" RELATED [OMIM:606711]
synonym: "specific language impairment 1; SLI1" RELATED [OMIM:606711]
synonym: "specific language impairment quantitative trait locus on chromosome 16" RELATED [OMIM:606711]
xref: OMIM:606711 {source="MONDO:equivalentTo"}
xref: UMLS:C1847614 {source="OMIM:606711", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000724 {source="DC-OMIM:606711", source="OMIM:606711"} ! specific language impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/606711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847614

[Term]
id: MONDO:0011711
name: specific language impairment 2
synonym: "SLI2" EXACT [MONDO:Lexical, OMIM:606712]
synonym: "specific language impairment 2" RELATED [OMIM:606712]
synonym: "specific language impairment 2; SLI2" RELATED [OMIM:606712]
synonym: "specific language impairment quantitative trait locus on chromosome 19" RELATED [OMIM:606712]
xref: OMIM:606712 {source="MONDO:equivalentTo"}
xref: UMLS:C1847605 {source="OMIM:606712", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000724 {source="DC-OMIM:606712", source="OMIM:606712"} ! specific language impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/606712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847605

[Term]
id: MONDO:0011712
name: van der Woude syndrome 2
def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0007846"}
synonym: "GRHL3 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "van der Woude syndrome 2" EXACT [MONDO:Lexical, OMIM:606713]
synonym: "VAN DER Woude syndrome 2; VWS2" RELATED [OMIM:606713]
synonym: "van der Woude syndrome caused by mutation in GRHL3" EXACT [MONDO:design_pattern]
synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1, OMIM:606713]
synonym: "VWS2" RELATED [MONDO:Lexical, OMIM:606713]
xref: GARD:0007846 {source="MONDO:equivalentTo"}
xref: MESH:C536529 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606713 {source="MONDO:equivalentTo"}
xref: UMLS:C1847604 {source="NCBI:mim2gene_medline", source="OMIM:606713", source="MONDO:equivalentTo"}
is_a: MONDO:0019508 {source="DC-OMIM:606713", source="MONDO:Redundant", source="MONDOLEX:0011712"} ! van der Woude syndrome
property_value: exactMatch http://identifiers.org/mesh/C536529
property_value: exactMatch http://identifiers.org/omim/606713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847604
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2 xsd:anyURI {source="GARD:0007846"}

[Term]
id: MONDO:0011713
name: melanoma-pancreatic cancer syndrome
synonym: "familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome" RELATED [OMIM:606719]
synonym: "melanoma-pancreatic cancer syndrome" EXACT [OMIM:606719]
xref: OMIM:606719 {source="MONDO:equivalentTo"}
is_a: MONDO:0018453 {source="ORDO:404560/btnt"} ! familial atypical multiple mole melanoma syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838547
property_value: exactMatch http://identifiers.org/omim/606719

[Term]
id: MONDO:0011714
name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
synonym: "LCCNS" RELATED [MONDO:Lexical, OMIM:606721]
synonym: "lipodystrophy, partial, with congenital cataracts and neurodegeneration" RELATED [OMIM:606721]
synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" EXACT [MONDO:Lexical, OMIM:606721]
synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; LCCNS" RELATED [OMIM:606721]
xref: OMIM:606721 {source="MONDO:equivalentTo"}
xref: UMLS:C3807567 {source="OMIM:606721", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847582
property_value: exactMatch http://identifiers.org/omim/606721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3807567

[Term]
id: MONDO:0011715
name: Seckel syndrome 2
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013]
synonym: "RBBP8 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL2" EXACT [DOID:0070013, MONDO:Lexical, OMIM:606744]
synonym: "Seckel syndrome 2" EXACT [MONDO:Lexical, OMIM:606744]
synonym: "Seckel syndrome 2; SCKL2" RELATED [OMIM:606744]
synonym: "Seckel syndrome caused by mutation in RBBP8" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1, OMIM:606744]
synonym: "Seckel-type dwarfism 2" EXACT [DOID:0070013, OMIM:606744]
xref: DOID:0070013 {source="MONDO:equivalentTo"}
xref: MESH:C537534 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606744 {source="DOID:0070013", source="MONDO:equivalentTo"}
xref: UMLS:C1847572 {source="OMIM:606744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:606744", source="DOID:0070013", source="MONDO:Redundant", source="MONDOLEX:0011715", source="OMIM:606744"} ! Seckel syndrome
property_value: exactMatch DOID:0070013
property_value: exactMatch http://identifiers.org/mesh/C537534
property_value: exactMatch http://identifiers.org/omim/606744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847572

[Term]
id: MONDO:0011716
name: acute hemorrhagic leukoencephalitis
def: "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." [https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis]
subset: gard_rare {source="GARD:0008629"}
synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [DOID:10992]
synonym: "acute hemorrhagic encephalomyelitis" EXACT [DOID:10992]
synonym: "acute hemorrhagic leukoencephalitis" EXACT [OMIM:606752]
synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [DOID:10992]
synonym: "AHL" EXACT [DOID:10992, OMIM:606752]
synonym: "Ahl" RELATED [OMIM:606752]
synonym: "AHLE" RELATED [GARD:0008629]
synonym: "Weston-Hurst syndrome" EXACT [DOID:10992]
xref: DOID:10992 {source="MONDO:equivalentTo", source="EFO:0007132"}
xref: EFO:0007132 {source="MONDO:equivalentTo"}
xref: GARD:0008629 {source="MONDO:equivalentTo"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004684 {source="MONDO:equivalentTo", source="EFO:0007132", source="DOID:10992"}
xref: NCIT:C84535 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:10992"}
xref: OMIM:606752 {source="MONDO:equivalentTo", source="DOID:10992"}
xref: SCTID:72986009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10992"}
xref: UMLS:C0014077 {source="NCIT:C84535", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606752", source="DOID:10992"}
is_a: MONDO:0003337 {source="NCIT:C84535"} ! acute hemorrhagic encephalitis
is_a: MONDO:0019383 {source="DOID:10992", source="MESH:D004684", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute disseminated encephalomyelitis
property_value: exactMatch DOID:10992
property_value: exactMatch http://identifiers.org/mesh/D004684
property_value: exactMatch http://identifiers.org/omim/606752
property_value: exactMatch http://identifiers.org/snomedct/72986009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014077
property_value: exactMatch NCIT:C84535
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis xsd:anyURI {source="GARD:0008629"}

[Term]
id: MONDO:0011717
name: hyperinsulinism-hyperammonemia syndrome
def: "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." [Orphanet:35878]
subset: gard_rare {source="GARD:0009931"}
subset: ordo_disease {source="Orphanet:35878"}
synonym: "GDH hyperinsulinism" EXACT [NCIT:C131832]
synonym: "GLUD1 hyperinsulinism" EXACT [NCIT:C131832]
synonym: "glutamate dehydrogenase 1 hyperinsulinism" EXACT [NCIT:C131832]
synonym: "HA/hi syndrome" RELATED [GARD:0009931]
synonym: "HHF6" RELATED [MONDO:Lexical, OMIM:606762]
synonym: "hi/HA syndrome" EXACT [Orphanet:35878]
synonym: "hyperinsulinemic hypoglycemia familial 6" RELATED [GARD:0009931]
synonym: "hyperinsulinemic hypoglycemia, familial, 6" RELATED [MONDO:Lexical, OMIM:606762]
synonym: "hyperinsulinemic hypoglycemia, familial, 6; HHF6" RELATED [OMIM:606762]
synonym: "hyperinsulinemic hypoglycemia, familial, type 6" EXACT [MONDORULE:1, OMIM:606762]
synonym: "hyperinsulinism hyperammonemia syndrome" RELATED [GARD:0009931]
synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT [OMIM:606762]
synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832]
xref: DOID:0070217 {source="MONDO:equivalentTo"}
xref: GARD:0009931 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="Orphanet:35878", source="ORDO:35878/attributed", source="ORDO:35878/ntbt"}
xref: MESH:C538375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131832 {source="MONDO:equivalentTo"}
xref: OMIM:606762 {source="ORDO:35878/e", source="Orphanet:35878", source="MONDO:equivalentTo"}
xref: Orphanet:35878 {source="MONDO:equivalentTo", source="OMIM:606762"}
xref: UMLS:C1847555 {source="MEDGEN:kboom-pr97-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606762"}
is_a: MONDO:0005803 {source="DC-OMIM:606762"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0015624 {source="Orphanet:35878"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0019217 {source="Orphanet:35878"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: exactMatch DOID:0070217
property_value: exactMatch http://identifiers.org/mesh/C538375
property_value: exactMatch http://identifiers.org/omim/606762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847555
property_value: exactMatch NCIT:C131832
property_value: exactMatch Orphanet:35878
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome xsd:anyURI {source="GARD:0009931"}

[Term]
id: MONDO:0011718
name: primary ciliary dyskinesia 2
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD2" EXACT [DOID:0110626, MONDO:Lexical, OMIM:606763]
synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical, OMIM:606763]
synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [OMIM:606763]
synonym: "ciliary dyskinesia, primary, 2; CILD2" RELATED [OMIM:606763]
synonym: "ciliary dyskinesia, primary, type 2" EXACT [MONDORULE:1, OMIM:606763]
synonym: "DNAAF3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [DOID:0110626]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF3" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 2" EXACT [DOID:0110626, MONDORULE:1]
xref: DOID:0110626 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110626"}
xref: MESH:C535277 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606763 {source="DOID:0110626", source="MONDO:equivalentTo"}
xref: UMLS:C1847554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606763"}
is_a: MONDO:0016575 {source="DC-OMIM:606763", source="DOID:0110626", source="MESH:C535277", source="MESH:C535277/inferred", source="MONDO:Redundant", source="MONDOLEX:0011718", source="OMIM:606763"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110626
property_value: exactMatch http://identifiers.org/mesh/C535277
property_value: exactMatch http://identifiers.org/omim/606763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847554

[Term]
id: MONDO:0011719
name: gastrointestinal stromal tumor
def: "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1 (see these terms)." [Orphanet:44890]
subset: ordo_disease {source="Orphanet:44890"}
synonym: "gant" EXACT [DOID:9253, NCIT:C27940]
synonym: "gastrointestinal stromal neoplasm" EXACT [NCIT:C3868]
synonym: "gastrointestinal stromal sarcoma" EXACT [Orphanet:44890]
synonym: "gastrointestinal stromal tumor" EXACT [MONDO:Lexical, OMIM:606764]
synonym: "gastrointestinal stromal tumor (gist)" EXACT [NCIT:C3868]
synonym: "gastrointestinal stromal tumor; gist" RELATED [OMIM:606764]
synonym: "gastrointestinal stromal tumors" RELATED [GARD:0008598]
synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890]
synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868]
xref: DOID:9253 {source="MONDO:equivalentTo"}
xref: GARD:0008598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C26.9 {source="ORDO:44890/attributed", source="ORDO:44890/ntbt", source="Orphanet:44890"}
xref: ICDO:8936/1 {source="NCIT:C3868"}
xref: MedDRA:10051066 {source="ORDO:44890/e", source="Orphanet:44890"}
xref: MESH:D046152 {source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253", source="MONDO:ontobio"}
xref: NCIT:C3868 {source="MONDO:equivalentTo", source="DOID:9253"}
xref: OMIM:606764 {source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253"}
xref: ONCOTREE:GIST {source="MONDO:equivalentTo"}
xref: Orphanet:44890 {source="OMIM:606764", source="MONDO:equivalentTo"}
xref: SCTID:420120006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15", source="DOID:9253"}
xref: UMLS:C0238198 {source="OMIM:606764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253", source="NCIT:C3868"}
xref: UMLS:C3179349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:44890"}
is_a: MONDO:0017128 {source="Orphanet:44890"} ! inherited digestive tract tumor
is_a: MONDO:0018506 {source="Orphanet:44890"} ! mesenchymal tumor of small intestine
property_value: closeMatch http://identifiers.org/snomedct/128755003
property_value: exactMatch DOID:9253
property_value: exactMatch http://identifiers.org/meddra/10051066
property_value: exactMatch http://identifiers.org/mesh/D046152
property_value: exactMatch http://identifiers.org/omim/606764
property_value: exactMatch http://identifiers.org/snomedct/420120006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3179349
property_value: exactMatch NCIT:C3868
property_value: exactMatch Orphanet:44890

[Term]
id: MONDO:0011720
name: spermatogenic failure 3
def: "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in SLC26A8" EXACT [MONDO:design_pattern]
synonym: "SLC26A8 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 3" EXACT [MONDO:Lexical, OMIM:606766]
synonym: "spermatogenic failure 3; SPGF3" RELATED [OMIM:606766]
synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1, OMIM:606766]
synonym: "SPGF3" RELATED [MONDO:Lexical, OMIM:606766]
xref: DOID:0070168 {source="MONDO:equivalentTo"}
xref: MESH:C564665 {source="MONDO:equivalentTo"}
xref: OMIM:606766 {source="MONDO:equivalentTo"}
xref: UMLS:C1847540 {source="OMIM:606766", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:606766", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! azoospermia
is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder
property_value: exactMatch DOID:0070168
property_value: exactMatch http://identifiers.org/mesh/C564665
property_value: exactMatch http://identifiers.org/omim/606766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847540

[Term]
id: MONDO:0011721
name: distal myopathy with anterior tibial onset
subset: ordo_disease {source="Orphanet:178400"}
synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400]
synonym: "DMAT" RELATED [MONDO:Lexical, OMIM:606768]
synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768]
synonym: "myopathy, distal, with anterior tibial onset; DMAT" RELATED [OMIM:606768]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:178400", source="ORDO:178400/attributed", source="ORDO:178400/ntbt"}
xref: MESH:C564664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606768 {source="ORDO:178400/e", source="Orphanet:178400", source="MONDO:equivalentTo"}
xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"}
xref: UMLS:C1847532 {source="NCBI:mim2gene_medline", source="OMIM:606768", source="Orphanet:178400", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016109 {source="Orphanet:178400"} ! autosomal recessive distal myopathy
is_a: MONDO:0016145 {source="Orphanet:178400"} ! qualitative or quantitative defects of dysferlin
property_value: exactMatch http://identifiers.org/mesh/C564664
property_value: exactMatch http://identifiers.org/omim/606768
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847532
property_value: exactMatch Orphanet:178400

[Term]
id: MONDO:0011722
name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
subset: ordo_disease {source="Orphanet:397973"}
synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [OMIM:606772]
synonym: "MOMES syndrome" EXACT [Orphanet:397973]
synonym: "Momes syndrome" RELATED [OMIM:606772]
xref: ICD10:Q87.8 {source="ORDO:397973/attributed", source="ORDO:397973/ntbt", source="Orphanet:397973"}
xref: MESH:C564660 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606772 {source="ORDO:397973/e", source="MONDO:equivalentTo", source="Orphanet:397973"}
xref: Orphanet:397973 {source="MONDO:equivalentTo", source="OMIM:606772"}
xref: UMLS:C1847522 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:397973", source="MEDGEN:kboom-pr92-c96", source="OMIM:606772"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397973", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:397973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:397973"} ! syndromic genetic obesity
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564660
property_value: exactMatch http://identifiers.org/omim/606772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847522
property_value: exactMatch Orphanet:397973

[Term]
id: MONDO:0011723
name: hemifacial myohyperplasia
def: "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy , strabismus , genitourinary system disorders, intellectual disability , and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system , neuronal abnormalities , chromosomal abnormalities , random events in twinning and fetal development, and vascular or lymphatic abnormalities ." [https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia]
subset: gard_rare {source="GARD:0010084"}
subset: ordo_malformation_syndrome {source="Orphanet:141148"}
synonym: "hemifacial myohyperplasia" EXACT [MONDO:Lexical, OMIM:606773]
synonym: "hemifacial myohyperplasia; HMH" RELATED [OMIM:606773]
synonym: "HMH" RELATED [MONDO:Lexical, OMIM:606773]
synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084]
xref: GARD:0010084 {source="MONDO:equivalentTo"}
xref: ICD10:Q67.4 {source="ORDO:141148/ntbt", source="Orphanet:141148"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="ORDO:141148/e", source="MONDO:ontobio"}
xref: OMIM:606773 {source="MONDO:equivalentTo", source="Orphanet:141148", source="ORDO:141148/e"}
xref: Orphanet:141148 {source="MONDO:equivalentTo", source="OMIM:606773"}
xref: SCTID:699420006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015496 {source="Orphanet:141148"} ! macroglossia
property_value: exactMatch http://identifiers.org/mesh/C535862
property_value: exactMatch http://identifiers.org/omim/606773
property_value: exactMatch http://identifiers.org/snomedct/699420006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847521
property_value: exactMatch Orphanet:141148
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia xsd:anyURI {source="GARD:0010084"}

[Term]
id: MONDO:0011724
name: encephalopathy due to GLUT1 deficiency
def: "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." [Orphanet:71277]
subset: gard_rare
subset: ordo_disease {source="Orphanet:71277"}
synonym: "De Vivo disease" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277]
synonym: "encephalopathy due to GLUT1 deficiency" EXACT [GARD:0009265, MESH:C536830]
synonym: "G1D" RELATED [GARD:0009265]
synonym: "glucose Transport defect, blood-brain barrier" RELATED [OMIM:606777]
synonym: "glucose transport defect, blood-brain barrier" RELATED [GARD:0009265, MESH:C536830]
synonym: "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" RELATED [MESH:C536830]
synonym: "glucose transporter Protein syndrome" RELATED [MESH:C536830]
synonym: "glucose transporter protein syndrome" RELATED [GARD:0009265]
synonym: "glucose transporter type 1 deficiency" EXACT [Orphanet:71277]
synonym: "glucose transporter type 1 deficiency syndrome" RELATED [MESH:C536830]
synonym: "glucose transporter type1 (glut-1) deficiency" RELATED [MESH:C536830]
synonym: "glut-1 deficiency syndrome" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277]
synonym: "GLUT1 deficiency syndrome" RELATED [GARD:0009265]
synonym: "GLUT1 deficiency syndrome 1" RELATED [MESH:C536830, MONDO:Lexical, OMIM:606777]
synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" RELATED [OMIM:606777]
synonym: "GLUT1 deficiency syndrome 1; GLUT1DS1" RELATED [OMIM:606777]
synonym: "GLUT1 deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:606777]
synonym: "GLUT1 DS" RELATED [GARD:0009265]
synonym: "GLUT1-DS" EXACT [Orphanet:71277]
synonym: "GLUT1DS1" RELATED [MESH:C536830, MONDO:Lexical, OMIM:606777]
xref: EFO:0009139 {source="MONDO:equivalentTo"}
xref: GARD:0009265 {source="MONDO:equivalentTo"}
xref: ICD10:G93.4 {source="Orphanet:71277", source="ORDO:71277/attributed", source="ORDO:71277/ntbt"}
xref: MESH:C536830 {source="MONDO:equivalentTo"}
xref: OMIM:606777 {source="ORDO:71277/e", source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265"}
xref: Orphanet:71277 {source="OMIM:606777", source="MONDO:equivalentTo", source="GARD:0009265"}
xref: UMLS:C1847501 {source="OMIM:606777", source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:CN030711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000188 {source="DC-OMIM:606777", source="OMIM:606777"} ! GLUT1 deficiency syndrome
is_a: MONDO:0016406 {source="Orphanet:71277"} ! other metabolic disease with epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149117
property_value: exactMatch http://identifiers.org/mesh/C536830
property_value: exactMatch http://identifiers.org/omim/606777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN030711
property_value: exactMatch Orphanet:71277
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome xsd:anyURI {source="GARD:0009265"}

[Term]
id: MONDO:0011725
name: Crigler-Najjar syndrome type 2
def: "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." [Orphanet:79235]
subset: gard_rare {source="GARD:0008683"}
subset: ordo_clinical_subtype {source="Orphanet:79235"}
synonym: "Arias syndrome" EXACT [Orphanet:79235]
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [Orphanet:79235]
synonym: "bilirubin-UGT deficiency type 2" EXACT [Orphanet:79235]
synonym: "Crigler Najjar syndrome, type 2" RELATED [GARD:0008683]
synonym: "Crigler-Najjar syndrome, type 2" RELATED [OMIM:606785]
synonym: "Crigler-Najjar syndrome, type II" RELATED [OMIM:606785]
synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:79235]
synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785]
synonym: "UGT deficiency type 2" EXACT [Orphanet:79235]
xref: GARD:0008683 {source="MONDO:equivalentTo"}
xref: ICD10:E80.5 {source="MONDO:subClassOf", source="ORDO:79235/attributed", source="ORDO:79235/ntbt", source="Orphanet:79235"}
xref: MedDRA:10011387 {source="ORDO:79235/e", source="Orphanet:79235"}
xref: MESH:C536213 {source="MONDO:equivalentTo", source="ORDO:79235/e", source="MONDO:ontobio", source="Orphanet:79235"}
xref: OMIM:606785 {source="MONDO:equivalentTo", source="ORDO:79235/e", source="Orphanet:79235"}
xref: Orphanet:79235 {source="MONDO:equivalentTo", source="OMIM:606785"}
xref: SCTID:68067009 {source="MONDO:kboom-pr-1.00/0.80/9.27", source="MONDO:equivalentTo"}
xref: UMLS:C2931132 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79235/e", source="OMIM:606785", source="Orphanet:79235"}
is_a: MONDO:0009044 {source="MESH:C536213", source="MONDOLEX:0011725", source="Orphanet:79235", source="linkedlifedata"} ! Crigler-Najjar syndrome
property_value: exactMatch http://identifiers.org/meddra/10011387
property_value: exactMatch http://identifiers.org/mesh/C536213
property_value: exactMatch http://identifiers.org/omim/606785
property_value: exactMatch http://identifiers.org/snomedct/68067009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268311
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931132
property_value: exactMatch Orphanet:79235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 xsd:anyURI {source="GARD:0008683"}

[Term]
id: MONDO:0011726
name: peripheral arterial occlusive disease 1
synonym: "Paod1" RELATED [OMIM:606787]
synonym: "peripheral arterial occlusive disease 1" EXACT [OMIM:606787]
synonym: "peripheral arterial occlusive disease type 1" EXACT [MONDORULE:1, OMIM:606787]
xref: MESH:C564658 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606787 {source="MONDO:equivalentTo"}
xref: UMLS:C1847493 {source="OMIM:606787", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564658
property_value: exactMatch http://identifiers.org/omim/606787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847493

[Term]
id: MONDO:0011727
name: anorexia nervosa, susceptibility to, 1
subset: predisposition
synonym: "AN" RELATED ABBREVIATION [OMIM:606788]
synonym: "anon" RELATED [OMIM:606788]
synonym: "ANON1" EXACT [MONDO:Lexical, OMIM:606788]
synonym: "ANON1" EXACT [OMIM:606788]
synonym: "anorexia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:606788]
synonym: "anorexia nervosa, susceptibility to, 1; ANON1" EXACT [OMIM:606788]
synonym: "anorexia nervosa, susceptibility to; anon" RELATED [OMIM:606788]
xref: OMIM:606788 {source="MONDO:equivalentTo"}
xref: UMLS:CN244557 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847492
property_value: exactMatch http://identifiers.org/omim/606788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244557

[Term]
id: MONDO:0011728
name: blepharospasm
def: "Involuntary twitching of the eyelid." [NCIT:P378]
synonym: "BEB" RELATED [GARD:0005909]
synonym: "benign essential blepharospasm" RELATED [GARD:0005909]
synonym: "blepharospasm, benign essential" RELATED [OMIM:606798]
synonym: "blepharospasm, benign essential, susceptibility to" RELATED [OMIM:606798]
xref: COHD:435802 {source="MONDO:equivalentTo"}
xref: DOID:529 {source="MONDO:equivalentTo"}
xref: GARD:0005909 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G24.5 {source="DOID:529", source="MONDO:equivalentTo"}
xref: ICD9:333.81 {source="DOID:529", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001764 {source="DOID:529", source="MONDO:equivalentTo"}
xref: OMIM:606798 {source="DOID:529", source="MONDO:equivalentTo"}
xref: SCTID:59026006 {source="DOID:529", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0005747 {source="DOID:529", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:529", source="https://en.wikipedia.org/wiki/Dystonia", source="linkedlifedata"} ! focal dystonia
property_value: closeMatch http://identifiers.org/snomedct/155009007
property_value: closeMatch http://identifiers.org/snomedct/267690000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930898
property_value: exactMatch DOID:529
property_value: exactMatch http://identifiers.org/mesh/D001764
property_value: exactMatch http://identifiers.org/omim/606798
property_value: exactMatch http://identifiers.org/snomedct/59026006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005747
property_value: exactMatch NCIT:C118723

[Term]
id: MONDO:0011729
name: stroke, susceptibility to, 1
subset: predisposition
synonym: "Strk1" RELATED [OMIM:606799]
synonym: "stroke, susceptibility to, 1" EXACT [OMIM:606799]
synonym: "stroke, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606799]
xref: OMIM:606799 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847482
property_value: exactMatch http://identifiers.org/omim/606799

[Term]
id: MONDO:0011730
name: fumaric aciduria
def: "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." [Orphanet:24]
subset: ordo_disease {source="Orphanet:24"}
synonym: "FMRD" RELATED [MONDO:Lexical, OMIM:606812]
synonym: "fumarase deficiency" EXACT [MONDO:Lexical, OMIM:606812, Orphanet:24]
synonym: "fumarase deficiency; FMRD" RELATED [OMIM:606812]
synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476]
synonym: "fumaric aciduria" EXACT [OMIM:606812]
xref: GARD:0006476 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.8 {source="Orphanet:24", source="ORDO:24/attributed", source="ORDO:24/ntbt"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538191 {source="ORDO:24/e", source="Orphanet:24", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606812 {source="ORDO:24/e", source="Orphanet:24", source="MONDO:equivalentTo"}
xref: Orphanet:24 {source="OMIM:606812", source="MONDO:equivalentTo"}
xref: SCTID:237983002 {source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C2936826 {source="ORDO:24/e", source="OMIM:606812", source="Orphanet:24", source="MONDO:equivalentTo"}
is_a: MONDO:0016402 {source="Orphanet:24"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:24"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016790 {source="Orphanet:24"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0019058 {source="Orphanet:24"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C538191
property_value: exactMatch http://identifiers.org/omim/606812
property_value: exactMatch http://identifiers.org/snomedct/237983002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936826
property_value: exactMatch Orphanet:24

[Term]
id: MONDO:0011731
name: glucose-galactose malabsorption
def: "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." [Orphanet:35710]
subset: gard_rare {source="GARD:0006521"}
subset: ordo_disease {source="Orphanet:35710"}
synonym: "carbohydrate intolerance of glucose galactose" RELATED [GARD:0006521]
synonym: "Complex carbohydrate intolerance" RELATED [GARD:0006521]
synonym: "GGM" RELATED [MONDO:Lexical, OMIM:606824]
synonym: "glucose galactose malabsorption deficiency" RELATED [GARD:0006521]
synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824]
synonym: "glucose/galactose malabsorption; GGM" RELATED [OMIM:606824]
synonym: "monosaccharide malabsorption" RELATED [OMIM:606824]
synonym: "SGLT1 deficiency" EXACT [Orphanet:35710]
xref: GARD:0006521 {source="MONDO:equivalentTo"}
xref: ICD10:E74.3 {source="Orphanet:35710", source="ORDO:35710/attributed", source="ORDO:35710/ntbt"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066388 {source="Orphanet:35710", source="ORDO:35710/e"}
xref: MESH:C562602 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606824 {source="Orphanet:35710", source="MONDO:equivalentTo", source="ORDO:35710/e"}
xref: Orphanet:35710 {source="OMIM:606824", source="MONDO:equivalentTo"}
xref: SCTID:190749000 {source="MONDO:kboom-pr-0.91/0.82/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0015178 {source="Orphanet:35710"} ! congenital intestinal transport defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0019226 {source="Orphanet:35710"} ! glucose transport disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268186
property_value: exactMatch http://identifiers.org/meddra/10066388
property_value: exactMatch http://identifiers.org/mesh/C562602
property_value: exactMatch http://identifiers.org/omim/606824
property_value: exactMatch http://identifiers.org/snomedct/190749000
property_value: exactMatch Orphanet:35710
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption xsd:anyURI {source="GARD:0006521"}

[Term]
id: MONDO:0011732
name: familial digital arthropathy-brachydactyly
def: "Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." [Orphanet:85169]
subset: ordo_malformation_syndrome {source="Orphanet:85169"}
synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835]
synonym: "digital arthropathy-brachydactyly, familial; FDAB" RELATED [OMIM:606835]
synonym: "FDAB" RELATED [MONDO:Lexical, OMIM:606835]
xref: ICD10:M06.8 {source="Orphanet:85169", source="ORDO:85169/attributed", source="ORDO:85169/ntbt"}
xref: MESH:C564656 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606835 {source="ORDO:85169/e", source="Orphanet:85169", source="MONDO:equivalentTo"}
xref: Orphanet:85169 {source="OMIM:606835", source="MONDO:equivalentTo"}
xref: UMLS:C1847406 {source="Orphanet:85169", source="OMIM:606835", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018240 {source="Orphanet:85169"} ! TRPV4-related bone disorder
is_a: MONDO:0019066 {source="Orphanet:85169", source="Orphanet:85169/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/mesh/C564656
property_value: exactMatch http://identifiers.org/omim/606835
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847406
property_value: exactMatch Orphanet:85169

[Term]
id: MONDO:0011733
name: PSMNSB
synonym: "faciomandibular myoclonus, nocturnal" RELATED [OMIM:606840]
synonym: "nocturnal facio-mandibular myoclonus" RELATED [GARD:0010195]
synonym: "parasomnia, sleep bruxism type" RELATED [MONDO:Lexical, OMIM:606840]
synonym: "parasomnia, sleep bruxism type; PSMNSB" RELATED [OMIM:606840]
synonym: "parasomnia, Sleeptalking type" RELATED [OMIM:606840]
synonym: "PSMNSB" EXACT [MONDO:Lexical, OMIM:606840]
xref: GARD:0010195 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536389 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606840 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847399
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149124
property_value: exactMatch http://identifiers.org/mesh/C536389
property_value: exactMatch http://identifiers.org/omim/606840

[Term]
id: MONDO:0011734
name: Cardioneuromyopathy with hyaline masses and nemaline rods
synonym: "Cardioneuromyopathy with hyaline masses and nemaline rods" EXACT [OMIM:606842]
xref: MESH:C564655 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606842 {source="MONDO:equivalentTo"}
xref: UMLS:C1847387 {source="OMIM:606842", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564655/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564655
property_value: exactMatch http://identifiers.org/omim/606842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847387

[Term]
id: MONDO:0011735
name: hyper-IgM syndrome type 3
def: "a form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." [https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_3]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:101090"}
synonym: "CD40 deficiency" RELATED [DOID:0060023]
synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HIGM3" EXACT [GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090]
synonym: "hyper IgM syndrome 3" RELATED [GARD:0010579]
synonym: "hyper-IgM syndrome 3" RELATED [OMIM:606843]
synonym: "hyper-IgM syndrome caused by mutation in CD40" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [DOID:0060023, Orphanet:101090]
synonym: "immunodeficiency with hyper IgM type 3" RELATED [GARD:0010579]
synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023]
synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM:606843]
synonym: "immunodeficiency with hyper-IgM, type 3; HIGM3" RELATED [OMIM:606843]
synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023]
xref: DOID:0060023 {source="MONDO:equivalentTo"}
xref: GARD:0010579 {source="MONDO:equivalentTo"}
xref: ICD10:D80.5 {source="ORDO:101090/attributed", source="ORDO:101090/ntbt", source="Orphanet:101090"}
xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="ORDO:101090/e", source="GARD:0010579"}
xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"}
is_a: MONDO:0015975 {source="Orphanet:101090"} ! hyper-IgM syndrome with susceptibility to opportunistic infections
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720957
property_value: exactMatch DOID:0060023
property_value: exactMatch http://identifiers.org/omim/606843
property_value: exactMatch Orphanet:101090
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 xsd:anyURI {source="GARD:0010579"}

[Term]
id: MONDO:0011736
name: Cree mental retardation syndrome
synonym: "Cree mental retardation syndrome" EXACT [OMIM:606851]
xref: MESH:C564654 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606851 {source="MONDO:equivalentTo"}
xref: UMLS:C1847361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606851"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564654
property_value: exactMatch http://identifiers.org/omim/606851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847361

[Term]
id: MONDO:0011737
name: PARK10
synonym: "PARK10" EXACT [MONDO:Lexical, OMIM:606852]
synonym: "Parkinson disease 10" RELATED [MONDO:Lexical, OMIM:606852]
synonym: "Parkinson disease 10; PARK10" RELATED [OMIM:606852]
synonym: "Parkinson disease, Age at onset of" RELATED [OMIM:606852]
xref: MESH:C564653 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606852 {source="MONDO:equivalentTo"}
xref: UMLS:C1847360 {source="OMIM:606852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C564653
property_value: exactMatch http://identifiers.org/omim/606852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847360

[Term]
id: MONDO:0011738
name: bilateral frontoparietal polymicrogyria
def: "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." [Orphanet:101070]
subset: gard_rare {source="GARD:0010784"}
subset: ordo_clinical_subtype {source="Orphanet:101070"}
synonym: "BFPP" RELATED [MONDO:Lexical, OMIM:606854]
synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854]
synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854]
synonym: "polymicrogyria, bilateral frontoparietal; BFPP" RELATED [OMIM:606854]
xref: GARD:0010784 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:101070/attributed", source="ORDO:101070/ntbt", source="Orphanet:101070"}
xref: MESH:C564652 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C148367 {source="MONDO:equivalentTo"}
xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="ORDO:101070/e"}
xref: Orphanet:101070 {source="OMIM:606854", source="MONDO:equivalentTo"}
xref: UMLS:C1847352 {source="OMIM:606854", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101070"}
is_a: MONDO:0017091 {source="Orphanet:101070"} ! bilateral polymicrogyria
property_value: exactMatch http://identifiers.org/mesh/C564652
property_value: exactMatch http://identifiers.org/omim/606854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847352
property_value: exactMatch NCIT:C148367
property_value: exactMatch Orphanet:101070
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria xsd:anyURI {source="GARD:0010784"}

[Term]
id: MONDO:0011739
name: pancreatic cancer, susceptibility to, 1
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "familial pancreatic carcinoma caused by mutation in PALLD" EXACT [MONDO:design_pattern]
synonym: "PALLD familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pancreatic cancer, susceptibility to, 1" EXACT [OMIM:606856]
synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606856]
synonym: "Pnca1" RELATED [OMIM:606856]
synonym: "susceptibility to pancreatic cancer 1" RELATED [OMIM:606856]
xref: OMIM:606856 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847351
property_value: exactMatch http://identifiers.org/omim/606856

[Term]
id: MONDO:0011740
name: Carney-Stratakis syndrome
def: "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." [Orphanet:97286]
subset: ordo_disease {source="Orphanet:97286"}
synonym: "Carney dyad" EXACT [Orphanet:97286]
synonym: "Carney-Stratakis dyad" EXACT [Orphanet:97286]
synonym: "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" RELATED [GARD:0010643]
synonym: "Carney-Stratakis syndrome" EXACT [OMIM:606864]
synonym: "gist-paraganglioma dyad" EXACT [Orphanet:97286]
synonym: "paraganglioma and gastric stromal sarcoma" EXACT [OMIM:606864, Orphanet:97286]
synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864]
synonym: "paraganglioma and gist" RELATED [GARD:0010643]
xref: GARD:0010643 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="ORDO:97286/attributed", source="ORDO:97286/ntbt", source="Orphanet:97286"}
xref: MESH:C564650 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94831 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:606864 {source="MONDO:equivalentTo", source="ORDO:97286/e", source="Orphanet:97286"}
xref: Orphanet:97286 {source="OMIM:606864", source="MONDO:equivalentTo"}
xref: SCTID:722377004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1847319 {source="NCIT:C94831", source="OMIM:606864", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97286"}
is_a: MONDO:0015079 {source="Orphanet:97286"} ! multiple polyglandular tumor
is_a: MONDO:0015356 {source="NCIT:C94831", source="linkedlifedata"} ! hereditary neoplastic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564650
property_value: exactMatch http://identifiers.org/omim/606864
property_value: exactMatch http://identifiers.org/snomedct/722377004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847319
property_value: exactMatch NCIT:C94831
property_value: exactMatch Orphanet:97286

[Term]
id: MONDO:0011741
name: HSCR6
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:606874]
synonym: "Hirschsprung disease, susceptibility to, 6; HSCR6" RELATED [OMIM:606874]
synonym: "HSCR6" EXACT [MONDO:Lexical, OMIM:606874]
xref: OMIM:606874 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969837
property_value: exactMatch http://identifiers.org/omim/606874

[Term]
id: MONDO:0011742
name: HSCR7
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 7" RELATED [MONDO:Lexical, OMIM:606875]
synonym: "Hirschsprung disease, susceptibility to, 7; HSCR7" RELATED [OMIM:606875]
synonym: "HSCR7" EXACT [MONDO:Lexical, OMIM:606875]
xref: OMIM:606875 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969836
property_value: exactMatch http://identifiers.org/omim/606875

[Term]
id: MONDO:0011743
name: Alzheimer disease 4
def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." [NCIT:C123413]
synonym: "AD4" EXACT [DOID:0110040]
synonym: "Ad4" RELATED [OMIM:606889]
synonym: "Alzheimer disease 4" EXACT [DOID:0110040, OMIM:606889]
synonym: "Alzheimer disease familial type 4" RELATED [GARD:0009469]
synonym: "Alzheimer disease type 4" EXACT [MONDORULE:1, OMIM:606889]
synonym: "Alzheimer disease, familial, 4" RELATED [OMIM:606889]
synonym: "Alzheimer disease, familial4" EXACT [DOID:0110040]
synonym: "Alzheimer's disease 4" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 4" EXACT [DOID:0110040, MONDORULE:1]
synonym: "familial Alzheimer disease, type 4" EXACT [NCIT:C123413]
synonym: "familial Alzheimer's disease, type 4" EXACT [NCIT:C123413]
xref: DOID:0110040 {source="MONDO:equivalentTo"}
xref: GARD:0009469 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536596 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123413 {source="MONDO:equivalentTo"}
xref: OMIM:606889 {source="DOID:0110040", source="MONDO:equivalentTo"}
xref: UMLS:C1847200 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:606889", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110040
property_value: exactMatch http://identifiers.org/mesh/C536596
property_value: exactMatch http://identifiers.org/omim/606889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847200
property_value: exactMatch NCIT:C123413

[Term]
id: MONDO:0011744
name: primary intraosseous venous malformation
def: "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." [Orphanet:140436]
subset: ordo_disease {source="Orphanet:140436"}
synonym: "hemangioma, intraosseous" RELATED [OMIM:606893]
synonym: "intraosseous hemangioma" EXACT [Orphanet:140436]
synonym: "osseous venous malformation" EXACT [Orphanet:140436]
synonym: "vascular malformation osseous" RELATED [OMIM:606893]
synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893]
xref: ICD10:D18.0 {source="ORDO:140436/attributed", source="ORDO:140436/ntbt", source="Orphanet:140436"}
xref: MESH:C564648 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606893 {source="MONDO:equivalentTo", source="ORDO:140436/e", source="Orphanet:140436"}
xref: Orphanet:140436 {source="MONDO:equivalentTo", source="OMIM:606893"}
xref: SCTID:764100007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:606893", source="Orphanet:140436"}
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0016223 {source="Orphanet:140436"} ! infantile hemangioma of rare localization
is_a: MONDO:0016524 {source="Orphanet:140436"} ! congenital vascular bone syndrome
is_a: MONDO:0024499 ! vascular bone neoplasm
property_value: exactMatch http://identifiers.org/mesh/C564648
property_value: exactMatch http://identifiers.org/omim/606893
property_value: exactMatch http://identifiers.org/snomedct/764100007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847197
property_value: exactMatch Orphanet:140436

[Term]
id: MONDO:0011745
name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery
subset: gard_rare {source="GARD:0009227"}
synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery" RELATED [GARD:0009227]
synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" EXACT [OMIM:606894]
xref: GARD:0009227 {source="MONDO:equivalentTo"}
xref: MESH:C535722 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606894 {source="MONDO:equivalentTo"}
xref: UMLS:C1847196 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606894"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535722
property_value: exactMatch http://identifiers.org/omim/606894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847196
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery xsd:anyURI {source="GARD:0009227"}

[Term]
id: MONDO:0011746
name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
subset: gard_rare {source="GARD:0008554"}
synonym: "distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" RELATED [GARD:0008554]
synonym: "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" EXACT [OMIM:606895]
xref: GARD:0008554 {source="MONDO:equivalentTo"}
xref: MESH:C538148 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606895 {source="MONDO:equivalentTo"}
xref: UMLS:C1847185 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606895"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538148
property_value: exactMatch http://identifiers.org/omim/606895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847185
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch xsd:anyURI {source="GARD:0008554"}

[Term]
id: MONDO:0011747
name: dyslexia, susceptibility to, 5
subset: predisposition
synonym: "dyslexia, susceptibility to, 5" RELATED [OMIM:606896]
synonym: "dyslexia, susceptibility to, 5; DYX5" RELATED [OMIM:606896]
synonym: "DYX5" EXACT [MONDO:Lexical, OMIM:606896]
xref: OMIM:606896 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:606896"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847184
property_value: exactMatch http://identifiers.org/omim/606896

[Term]
id: MONDO:0011748
name: Usher syndrome type 1G
def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." [MONDO:patterns/disease_series_by_gene]
synonym: "USH1G" EXACT [DOID:0110834, MONDO:Lexical, OMIM:606943]
synonym: "USH1G Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Usher syndrome caused by mutation in USH1G" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type Ig" EXACT [DOID:0110834]
synonym: "Usher syndrome, type 1G" RELATED [OMIM:606943]
synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical, OMIM:606943]
synonym: "USHER syndrome, type Ig; USH1G" RELATED [OMIM:606943]
xref: DOID:0110834 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110834"}
xref: MESH:C564643 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606943 {source="DOID:0110834", source="MONDO:equivalentTo"}
xref: UMLS:C1847089 {source="OMIM:606943", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010168 {source="DOID:0110834", source="MONDOLEX:0011748"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110834
property_value: exactMatch http://identifiers.org/mesh/C564643
property_value: exactMatch http://identifiers.org/omim/606943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847089

[Term]
id: MONDO:0011749
name: oculocutaneous albinism type 1B
def: "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." [Orphanet:79434]
subset: gard_rare {source="GARD:0000594"}
subset: ordo_clinical_subtype {source="Orphanet:79434"}
synonym: "albinism, oculocutaneous, type 1B" RELATED [OMIM:606952]
synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [OMIM:606952]
synonym: "albinism, oculocutaneous, type IB" RELATED [MONDO:Lexical, OMIM:606952]
synonym: "albinism, oculocutaneous, type IB; OCA1B" RELATED [OMIM:606952]
synonym: "albinism, Yellow mutant type" EXACT [DOID:0070095, OMIM:606952]
synonym: "Oca1-Ts" RELATED [OMIM:606952]
synonym: "OCA1B" EXACT [DOID:0070095, MONDO:Lexical, OMIM:606952, Orphanet:79434]
synonym: "oculocutaneous albinism type IB" RELATED [DOID:0070095]
synonym: "oculocutaneous albinism, Amish type" EXACT [Orphanet:79434]
synonym: "oculocutaneous albinism, type 1B" RELATED [OMIM:606952]
synonym: "platinum oculocutaneous albinism" EXACT [Orphanet:79434]
synonym: "Yellow albinism" RELATED [OMIM:606952]
synonym: "Yellow mutant albinism" RELATED [GARD:0000594]
synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434]
xref: DOID:0070095 {source="MONDO:equivalentTo"}
xref: GARD:0000594 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:79434/attributed", source="ORDO:79434/ntbt", source="Orphanet:79434"}
xref: MESH:C537729 {source="MONDO:equivalentTo", source="ORDO:79434/e", source="Orphanet:79434"}
xref: OMIM:606952 {source="MONDO:equivalentTo", source="ORDO:79434/e", source="Orphanet:79434", source="DOID:0070095"}
xref: Orphanet:79434 {source="OMIM:606952", source="MONDO:equivalentTo"}
xref: UMLS:C1847024 {source="OMIM:606952", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:79434/e", source="Orphanet:79434"}
is_a: MONDO:0008745 ! oculocutaneous albinism type 1A
property_value: exactMatch DOID:0070095
property_value: exactMatch http://identifiers.org/mesh/C537729
property_value: exactMatch http://identifiers.org/omim/606952
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847024
property_value: exactMatch Orphanet:79434
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b xsd:anyURI {source="GARD:0000594"}

[Term]
id: MONDO:0011750
name: obsolete insulinoma tumor suppressor gene locus
synonym: "insulinoma tumor suppressor gene locus" EXACT [OMIM:606960]
xref: OMIM:606960 {source="MONDO:equivalentObsolete"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847015
property_value: exactMatch http://identifiers.org/omim/606960
is_obsolete: true

[Term]
id: MONDO:0011751
name: COPD, severe early onset
comment: Editor note: consider merging to parent
synonym: "COPD" RELATED [MONDO:Lexical, OMIM:606963]
synonym: "Copd, Severe early-onset" RELATED [OMIM:606963]
synonym: "pulmonary disease, chronic obstructive" RELATED [MONDO:Lexical, OMIM:606963]
synonym: "pulmonary disease, chronic obstructive, rate of decline of lung function 1N" RELATED [OMIM:606963]
synonym: "pulmonary disease, chronic obstructive, Severe early-onset" RELATED [OMIM:606963]
synonym: "pulmonary disease, chronic obstructive; COPD" RELATED [OMIM:606963]
xref: OMIM:606963 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005002 {source="MONDOLEX:0011751"} ! chronic obstructive pulmonary disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847014
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969833
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751329
property_value: exactMatch http://identifiers.org/omim/606963

[Term]
id: MONDO:0011752
name: nephronophthisis 4
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "juvenile nephronophthisis 4" EXACT [DOID:0111115]
synonym: "nephronophthisis (disease) caused by mutation in NPHP4" EXACT []
synonym: "nephronophthisis 4" EXACT [MONDO:Lexical, OMIM:606966]
synonym: "nephronophthisis 4, juvenile" RELATED [OMIM:606966]
synonym: "nephronophthisis 4; NPHP4" RELATED [OMIM:606966]
synonym: "nephronophthisis type 4" EXACT [DOID:0111115, MONDORULE:1, OMIM:606966]
synonym: "NPHP4" EXACT [DOID:0111115, MONDO:Lexical, OMIM:606966]
synonym: "NPHP4 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111115 {source="MONDO:equivalentTo"}
xref: MESH:C564640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606966 {source="MONDO:equivalentTo", source="DOID:0111115"}
xref: SCTID:446989009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1847013 {source="NCBI:mim2gene_medline", source="OMIM:606966", source="MONDO:equivalentTo"}
xref: UMLS:C2959367 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:606966", source="DOID:0111115", source="MONDO:Redundant", source="OMIM:606966"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111115
property_value: exactMatch http://identifiers.org/mesh/C564640
property_value: exactMatch http://identifiers.org/omim/606966
property_value: exactMatch http://identifiers.org/snomedct/446989009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2959367

[Term]
id: MONDO:0011753
name: EIG2
subset: predisposition
synonym: "EIG2" EXACT [MONDO:Lexical, OMIM:606972]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:606972]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 2; EIG2" RELATED [OMIM:606972]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" RELATED [OMIM:606972]
xref: OMIM:606972 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:606972"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846992
property_value: exactMatch http://identifiers.org/omim/606972

[Term]
id: MONDO:0011754
name: familial hyperreninemic hypoaldosteronism type 2
subset: ordo_etiological_subtype {source="Orphanet:99764"}
synonym: "aldosterone synthase deficiency unrelated to CYP11B2" EXACT [Orphanet:99764]
synonym: "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" EXACT [Orphanet:99764]
synonym: "FHHA2" EXACT [Orphanet:99764]
synonym: "Fhha2" RELATED [OMIM:606984]
synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [OMIM:606984]
synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1, OMIM:606984]
xref: ICD10:E27.4 {source="Orphanet:99764", source="ORDO:99764/attributed", source="ORDO:99764/ntbt"}
xref: MESH:C564638 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606984 {source="Orphanet:99764", source="MONDO:equivalentTo", source="ORDO:99764/e"}
xref: Orphanet:99764 {source="OMIM:606984", source="MONDO:equivalentTo"}
xref: UMLS:C1846990 {source="Orphanet:99764", source="OMIM:606984", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018541 {source="Orphanet:99764"} ! familial hypoaldosteronism
property_value: exactMatch http://identifiers.org/mesh/C564638
property_value: exactMatch http://identifiers.org/omim/606984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846990
property_value: exactMatch Orphanet:99764

[Term]
id: MONDO:0011755
name: SLSN3
synonym: "SENIOR-Loken syndrome 3" RELATED [MONDO:Lexical, OMIM:606995]
synonym: "SENIOR-Loken syndrome 3; SLSN3" RELATED [OMIM:606995]
synonym: "SLSN3" EXACT [MONDO:Lexical, OMIM:606995]
xref: MESH:C564637 {source="MONDO:equivalentTo"}
xref: OMIM:606995 {source="MONDO:equivalentTo"}
xref: UMLS:C1846980 {source="OMIM:606995", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017842 {source="DC-OMIM:606995", source="OMIM:606995"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/mesh/C564637
property_value: exactMatch http://identifiers.org/omim/606995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846980

[Term]
id: MONDO:0011756
name: Senior-Loken syndrome 4
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NPHP4 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 4" EXACT [MONDO:Lexical, OMIM:606996]
synonym: "SENIOR-Loken syndrome 4; SLSN4" RELATED [OMIM:606996]
synonym: "Senior-Loken syndrome caused by mutation in NPHP4" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1, OMIM:606996]
synonym: "SLSN4" RELATED [MONDO:Lexical, OMIM:606996]
xref: MESH:C537581 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:606996 {source="MONDO:equivalentTo"}
xref: UMLS:C1846979 {source="OMIM:606996", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017842 {source="DC-OMIM:606996", source="MONDO:Redundant", source="OMIM:606996"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/mesh/C537581
property_value: exactMatch http://identifiers.org/omim/606996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846979

[Term]
id: MONDO:0011757
name: brachydactyly type A1B
synonym: "BDA1B" EXACT [DOID:0110974, MONDO:Lexical, OMIM:607004]
synonym: "brachydactyly, type A1, B" RELATED [MONDO:Lexical, OMIM:607004]
synonym: "brachydactyly, type A1, B; BDA1B" RELATED [OMIM:607004]
xref: DOID:0110974 {source="MONDO:equivalentTo"}
xref: MESH:C564635 {source="MONDO:equivalentTo"}
xref: OMIM:607004 {source="DOID:0110974", source="MONDO:equivalentTo"}
xref: UMLS:C1846949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607004"}
is_a: MONDO:0007215 {source="DOID:0110974"} ! brachydactyly type A1
property_value: exactMatch DOID:0110974
property_value: exactMatch http://identifiers.org/mesh/C564635
property_value: exactMatch http://identifiers.org/omim/607004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846949

[Term]
id: MONDO:0011758
name: Hurler syndrome
def: "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." [Orphanet:93473]
subset: ordo_clinical_subtype {source="Orphanet:93473"}
synonym: "Hurler disease" EXACT [Orphanet:93473]
synonym: "Hurler syndrome" EXACT [OMIM:607014]
synonym: "MPS I H" EXACT [NCIT:C61261]
synonym: "MPS1-H" RELATED [GARD:0012559]
synonym: "MPS1H" EXACT [Orphanet:93473]
synonym: "MPSIH" EXACT [Orphanet:93473]
synonym: "mucopolysaccharidosis IH" RELATED [GARD:0012559]
synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473]
synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473]
xref: GARD:0012559 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E76.0 {source="Orphanet:93473", source="ORDO:93473/attributed", source="ORDO:93473/ntbt"}
xref: NCIT:C61261 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.27"}
xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="ORDO:93473/e"}
xref: Orphanet:93473 {source="MONDO:equivalentTo", source="OMIM:607014"}
is_a: MONDO:0001586 {source="MONDOLEX:0011758", source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease
is_a: MONDO:0016326 {source="Orphanet:93473"} ! lysosomal disease with hypertrophic cardiomyopathy
is_a: MONDO:0016341 {source="Orphanet:93473"} ! lysosomal disease with restrictive cardiomyopathy
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086795
property_value: exactMatch http://identifiers.org/omim/607014
property_value: exactMatch NCIT:C61261
property_value: exactMatch Orphanet:93473

[Term]
id: MONDO:0011759
name: Hurler-Scheie syndrome
def: "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93476]
subset: ordo_clinical_subtype {source="Orphanet:93476"}
synonym: "Hurler-Scheie syndrome" EXACT [OMIM:607015]
synonym: "Hurler–Scheie syndrome" RELATED [GARD:0012560]
synonym: "l-iduronidase deficiency, Scheie type" RELATED []
synonym: "MPS I H-S" EXACT [NCIT:C122782]
synonym: "MPS1-HS" RELATED [GARD:0012560]
synonym: "MPS1H/S" EXACT [Orphanet:93476]
synonym: "MPSIH/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis IH/S" RELATED [GARD:0012560]
synonym: "mucopolysaccharidosis type 1H/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis type I mild form" RELATED []
synonym: "mucopolysaccharidosis type I-S" RELATED []
synonym: "mucopolysaccharidosis type IH/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis type Ih/S" RELATED [OMIM:607015]
synonym: "mucopolysaccharidosis, mps-I-s" EXACT []
synonym: "Scheie disease mps type 1s" RELATED []
synonym: "Scheie's syndrome" RELATED []
xref: GARD:0012560 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E76.0 {source="Orphanet:93476", source="ORDO:93476/attributed", source="ORDO:93476/ntbt"}
xref: MedDRA:10056916 {source="ORDO:93476/e", source="Orphanet:93476"}
xref: NCIT:C122782 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.79/0.27"}
xref: OMIM:607015 {source="ORDO:93476/e", source="Orphanet:93476", source="MONDO:equivalentTo"}
xref: Orphanet:93476 {source="MONDO:equivalentTo", source="OMIM:607015"}
xref: SCTID:73123008 {source="MONDO:equivalentTo"}
xref: UMLS:C0086431 {source="ORDO:93476/e", source="Orphanet:93476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122782", source="OMIM:607015"}
is_a: MONDO:0001586 {source="MONDOLEX:0011759", source="NCIT:C122782", source="Orphanet:93476", source="linkedlifedata"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease
is_a: MONDO:0016326 {source="Orphanet:93476"} ! lysosomal disease with hypertrophic cardiomyopathy
property_value: exactMatch http://identifiers.org/meddra/10056916
property_value: exactMatch http://identifiers.org/omim/607015
property_value: exactMatch http://identifiers.org/snomedct/73123008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086431
property_value: exactMatch NCIT:C122782
property_value: exactMatch Orphanet:93476

[Term]
id: MONDO:0011760
name: Scheie syndrome
def: "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93474]
subset: gard_rare {source="GARD:0012561"}
subset: ordo_clinical_subtype {source="Orphanet:93474"}
synonym: "MPS I S" EXACT [NCIT:C61265]
synonym: "MPS V" RELATED [OMIM:607016]
synonym: "MPS V, formerly" RELATED [OMIM:607016]
synonym: "MPS1-S" RELATED [GARD:0012561]
synonym: "MPS1S" EXACT [Orphanet:93474]
synonym: "MPS5, formerly" RELATED [GARD:0012561]
synonym: "MPSIS" EXACT [Orphanet:93474]
synonym: "mucopolysaccharidosis Is" RELATED [GARD:0012561]
synonym: "mucopolysaccharidosis type 1S" EXACT [DOID:0060222, OMIM:607016, Orphanet:93474]
synonym: "mucopolysaccharidosis type IS" EXACT [DOID:0060222, Orphanet:93474]
synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222, OMIM:607016]
synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016]
synonym: "Scheie syndrome" EXACT [OMIM:607016]
xref: DOID:0060222 {source="MONDO:equivalentTo"}
xref: GARD:0012561 {source="MONDO:equivalentTo"}
xref: ICD10:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="ORDO:93474/attributed", source="ORDO:93474/ntbt"}
xref: NCIT:C61265 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:607016 {source="ORDO:93474/e", source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo"}
xref: Orphanet:93474 {source="DOID:0060222", source="MONDO:equivalentTo", source="OMIM:607016"}
xref: UMLS:C0026708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61265", source="OMIM:607016"}
is_a: MONDO:0001586 {source="MONDOLEX:0011760", source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="MONDOLEX:0011760", source="NCIT:C61265"} ! syndromic disease
property_value: exactMatch DOID:0060222
property_value: exactMatch http://identifiers.org/omim/607016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026708
property_value: exactMatch NCIT:C61265
property_value: exactMatch Orphanet:93474
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome xsd:anyURI {source="GARD:0012561"}

[Term]
id: MONDO:0011761
name: autosomal dominant nonsyndromic deafness 21
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3." [DOID:0110551, PMID:10764236]
synonym: "autosomal dominant deafness 21" EXACT [DOID:0110551]
synonym: "autosomal dominant nonsyndromic deafness type 21" EXACT [DOID:0110551, MONDORULE:2]
synonym: "deafness, autosomal dominant 21" RELATED [MONDO:Lexical, OMIM:607017]
synonym: "deafness, autosomal dominant 21; DFNA21" RELATED [OMIM:607017]
synonym: "DFNA21" EXACT [DOID:0110551, MONDO:Lexical, OMIM:607017]
xref: DOID:0110551 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110551"}
xref: MESH:C564634 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607017 {source="MONDO:equivalentTo", source="DOID:0110551"}
xref: UMLS:C1846922 {source="OMIM:607017", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:607017", source="DOID:0110551", source="OMIM:607017"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110551
property_value: exactMatch http://identifiers.org/mesh/C564634
property_value: exactMatch http://identifiers.org/omim/607017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846922

[Term]
id: MONDO:0011762
name: autosomal recessive nonsyndromic deafness 22
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 22" EXACT [DOID:0110480]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 22" EXACT [DOID:0110480, MONDORULE:2]
synonym: "deafness, autosomal recessive 22" RELATED [MONDO:Lexical, OMIM:607039]
synonym: "deafness, autosomal recessive 22; DFNB22" RELATED [OMIM:607039]
synonym: "deafness, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:607039]
synonym: "DFNB22" EXACT [DOID:0110480, MONDO:Lexical, OMIM:607039]
synonym: "OTOA autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110480 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110480"}
xref: MESH:C564633 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607039 {source="DOID:0110480", source="MONDO:equivalentTo"}
xref: UMLS:C1846896 {source="OMIM:607039", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:607039", source="DOID:0110480", source="MONDO:Redundant", source="OMIM:607039"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110480
property_value: exactMatch http://identifiers.org/mesh/C564633
property_value: exactMatch http://identifiers.org/omim/607039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846896

[Term]
id: MONDO:0011763
name: T-box 24
synonym: "T-box 24" EXACT [OMIM:607044]
synonym: "T-box type 24" EXACT [MONDORULE:2, OMIM:607044]
synonym: "Tbx24" RELATED [OMIM:607044]
xref: OMIM:607044 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846888
property_value: exactMatch http://identifiers.org/omim/607044

[Term]
id: MONDO:0011764
name: autosomal dominant Parkinson disease 8
def: "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Parkinson disease type 8" EXACT [DOID:0060371, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 8" RELATED [DOID:0060371]
synonym: "LRRK2 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK8" RELATED [MONDO:Lexical, OMIM:607060]
synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607060]
synonym: "Parkinson disease 8, autosomal dominant; PARK8" RELATED [OMIM:607060]
synonym: "Parkinson disease caused by mutation in LRRK2" EXACT [MONDO:design_pattern]
xref: DOID:0060371 {source="MONDO:equivalentTo"}
xref: OMIM:607060 {source="MONDO:equivalentTo", source="DOID:0060371"}
xref: UMLS:C1846862 {source="NCBI:mim2gene_medline", source="OMIM:607060", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="DOID:0060371", source="Orphanet:411602"} ! hereditary late onset Parkinson disease
property_value: exactMatch DOID:0060371
property_value: exactMatch http://identifiers.org/omim/607060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846862

[Term]
id: MONDO:0011765
name: multiple epiphyseal dysplasia type 5
def: "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia (see this term) characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." [Orphanet:93311]
subset: ordo_disease {source="Orphanet:93311"}
synonym: "BHMED" EXACT [Orphanet:93311]
synonym: "bilateral hereditary micro-epiphyseal dysplasia" EXACT [Orphanet:93311]
synonym: "EDM5" EXACT [MONDO:Lexical, OMIM:607078, Orphanet:93311]
synonym: "epiphyseal dysplasia multiple 5" RELATED [GARD:0009794]
synonym: "epiphyseal dysplasia, multiple, 5" RELATED [MONDO:Lexical, OMIM:607078]
synonym: "epiphyseal dysplasia, multiple, 5; EDM5" RELATED [OMIM:607078]
synonym: "epiphyseal dysplasia, multiple, type 5" EXACT [MONDORULE:1, OMIM:607078]
synonym: "MATN3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MED5" EXACT [Orphanet:93311]
synonym: "Microepiphyseal dysplasia, bilateral hereditary" RELATED [OMIM:607078]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" EXACT []
synonym: "multiple epiphyseal dysplasia 5" RELATED [GARD:0009794]
synonym: "multiple epiphyseal dysplasia, MATN3 related" RELATED [GARD:0009794]
synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078]
synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311]
xref: DOID:0070299 {source="MONDO:equivalentTo"}
xref: GARD:0009794 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93311", source="ORDO:93311/attributed", source="ORDO:93311/ntbt"}
xref: MESH:C535505 {source="ORDO:93311/e", source="Orphanet:93311", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607078 {source="ORDO:93311/e", source="Orphanet:93311", source="MONDO:equivalentTo"}
xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"}
xref: SCTID:715674008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1846843 {source="MEDGEN:kboom-pr98-c99", source="ORDO:93311/e", source="Orphanet:93311", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607078"}
xref: UMLS:C4275060 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016648 {source="DC-OMIM:607078", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311", source="linkedlifedata"} ! multiple epiphyseal dysplasia (disease)
property_value: exactMatch DOID:0070299
property_value: exactMatch http://identifiers.org/mesh/C535505
property_value: exactMatch http://identifiers.org/omim/607078
property_value: exactMatch http://identifiers.org/snomedct/715674008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275060
property_value: exactMatch Orphanet:93311

[Term]
id: MONDO:0011766
name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
subset: ordo_malformation_syndrome {source="Orphanet:168563"}
synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080]
xref: ICD10:Q56.1 {source="Orphanet:168563", source="ORDO:168563/attributed", source="ORDO:168563/ntbt"}
xref: MESH:C567773 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607080 {source="Orphanet:168563", source="ORDO:168563/e", source="MONDO:equivalentTo"}
xref: Orphanet:168563 {source="OMIM:607080", source="MONDO:equivalentTo"}
xref: UMLS:C2751325 {source="Orphanet:168563", source="OMIM:607080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MESH:C567773", source="MONDOLEX:0011766"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0017978 {source="Orphanet:168563"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:168563"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C567773
property_value: exactMatch http://identifiers.org/omim/607080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751325
property_value: exactMatch Orphanet:168563

[Term]
id: MONDO:0011767
name: autosomal recessive nonsyndromic deafness 31
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 31" EXACT [DOID:0110490]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 31" EXACT [DOID:0110490, MONDORULE:2]
synonym: "deafness, autosomal recessive 31" RELATED [MONDO:Lexical, OMIM:607084]
synonym: "deafness, autosomal recessive 31; DFNB31" RELATED [OMIM:607084]
synonym: "deafness, autosomal recessive type 31" EXACT [MONDORULE:2, OMIM:607084]
synonym: "DFNB31" EXACT [DOID:0110490, MONDO:Lexical, OMIM:607084]
synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084]
synonym: "WHRN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110490 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110490"}
xref: MESH:C564629 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607084 {source="MONDO:equivalentTo", source="DOID:0110490"}
xref: UMLS:C1846839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607084"}
is_a: MONDO:0019588 {source="DC-OMIM:607084", source="DOID:0110490", source="MONDO:Redundant", source="OMIM:607084"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110490
property_value: exactMatch http://identifiers.org/mesh/C564629
property_value: exactMatch http://identifiers.org/omim/607084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846839

[Term]
id: MONDO:0011768
name: myasthenia gravis with thymus hyperplasia
synonym: "Myas1" RELATED [OMIM:607085]
synonym: "myasthenia gravis with thymus hyperplasia" EXACT [OMIM:607085]
xref: MESH:C564628 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607085 {source="MONDO:equivalentTo"}
xref: UMLS:C1846838 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607085"}
is_a: MONDO:0009688 {source="MESH:C564628", source="ORDO:589/btnt"} ! myasthenia gravis
property_value: exactMatch http://identifiers.org/mesh/C564628
property_value: exactMatch http://identifiers.org/omim/607085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846838

[Term]
id: MONDO:0011769
name: obsolete familial aortic dissection
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/408 xsd:string
is_obsolete: true
replaced_by: MONDO:0019625

[Term]
id: MONDO:0011770
name: aortic aneurysm, familial thoracic 2
synonym: "AAT2" RELATED [MONDO:Lexical, OMIM:607087]
synonym: "aortic aneurysm, familial thoracic 2" EXACT [MONDO:Lexical, OMIM:607087]
synonym: "aortic aneurysm, familial thoracic 2; AAT2" RELATED [OMIM:607087]
synonym: "FAA2" RELATED [OMIM:607087]
xref: MESH:C564627 {source="MONDO:equivalentTo"}
xref: OMIM:607087 {source="MONDO:equivalentTo"}
xref: UMLS:C1846837 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607087"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:607087", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/mesh/C564627
property_value: exactMatch http://identifiers.org/omim/607087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846837

[Term]
id: MONDO:0011771
name: distal spinal muscular atrophy type 3
def: "Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." [Orphanet:139547]
subset: ordo_disease {source="Orphanet:139547"}
synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [Orphanet:139547]
synonym: "dHMN3" RELATED [OMIM:607088]
synonym: "dHMN3 and dHMN4" EXACT [Orphanet:139547]
synonym: "dHMN4" RELATED [OMIM:607088]
synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [Orphanet:139547]
synonym: "dSMA3" EXACT [MONDO:Lexical, OMIM:607088, Orphanet:139547]
synonym: "HMN 3" RELATED [OMIM:607088]
synonym: "HMN 4" RELATED [OMIM:607088]
synonym: "neuronopathy, distal hereditary motor, type 3" RELATED [OMIM:607088]
synonym: "neuronopathy, distal hereditary motor, type 4" RELATED [OMIM:607088]
synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 3; dSMA3" RELATED [OMIM:607088]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:139547", source="ORDO:139547/attributed", source="ORDO:139547/ntbt"}
xref: MESH:C564626 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607088 {source="Orphanet:139547", source="ORDO:139547/e", source="MONDO:equivalentTo"}
xref: Orphanet:139547 {source="MONDO:equivalentTo", source="OMIM:607088"}
xref: UMLS:C1846823 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:139547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607088"}
is_a: MONDO:0001516 {source="DC-OMIM:607088", source="MESH:C564626"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="MONDOLEX:0011771", source="Orphanet:139547"} ! autosomal recessive distal hereditary motor neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564626
property_value: exactMatch http://identifiers.org/omim/607088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846823
property_value: exactMatch Orphanet:139547

[Term]
id: MONDO:0011772
name: B4GALT1-CDG
def: "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." [Orphanet:79332]
subset: ordo_disease {source="Orphanet:79332"}
synonym: "B4GALT1-CDG (CDG-IId)" RELATED [GARD:0009841]
synonym: "Beta-1,4-galactosyltransferase deficiency" EXACT [Orphanet:79332]
synonym: "carbohydrate deficient glycoprotein syndrome type IId" EXACT [Orphanet:79332]
synonym: "CDG 2D" RELATED [GARD:0009841]
synonym: "CDG IId" RELATED [OMIM:607091]
synonym: "CDG syndrome type IId" EXACT [Orphanet:79332]
synonym: "CDG-IId" EXACT [Orphanet:79332]
synonym: "CDG2D" EXACT [MONDO:Lexical, OMIM:607091, Orphanet:79332]
synonym: "congenital disorder of glycosylation type 2d" EXACT [Orphanet:79332]
synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332]
synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091]
synonym: "congenital disorder of glycosylation, type IId; CDG2D" RELATED [OMIM:607091]
xref: DOID:0070256 {source="MONDO:equivalentTo"}
xref: GARD:0009841 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79332/attributed", source="ORDO:79332/ntbt", source="Orphanet:79332"}
xref: MESH:C535753 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607091 {source="MONDO:equivalentTo", source="ORDO:79332/e", source="Orphanet:79332"}
xref: Orphanet:79332 {source="OMIM:607091", source="MONDO:equivalentTo"}
xref: SCTID:725587007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931009 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:79332"}
is_a: MONDO:0005501 {source="DC-OMIM:607091", source="MONDOLEX:0011772", source="OMIM:607091"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017121 {source="Orphanet:79332"} ! syndrome with a Dandy-Walker malformation as major feature
is_a: MONDO:0017749 {source="Orphanet:79332"} ! disorder of multiple glycosylation
is_a: MONDO:0018284 {source="Orphanet:79332"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018288 {source="Orphanet:79332"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018292 ! congenital disorder of glycosylation-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846816
property_value: exactMatch DOID:0070256
property_value: exactMatch http://identifiers.org/mesh/C535753
property_value: exactMatch http://identifiers.org/omim/607091
property_value: exactMatch http://identifiers.org/snomedct/725587007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931009
property_value: exactMatch Orphanet:79332

[Term]
id: MONDO:0011773
name: anauxetic dysplasia
def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." [DOID:0050640, https://www.ncbi.nlm.nih.gov/books/NBK84550/]
comment: Editor note: consider distinct subclass for type 1
subset: ordo_disease {source="Orphanet:93347"}
subset: prototype_pattern
synonym: "anauxetic dysplasia" EXACT [OMIM:607095]
synonym: "anauxetic dysplasia 1" RELATED [DOID:0050640]
synonym: "anauxetic dysplasia 1; ANXD1" RELATED [OMIM:607095]
synonym: "anauxetic dysplasia type 1" EXACT [DOID:0050640, MONDORULE:1]
synonym: "ANXD1" RELATED [OMIM:607095]
synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" EXACT [Orphanet:93347]
synonym: "spondyloepimetaphyseal dysplasia, Menger type" EXACT [Orphanet:93347]
synonym: "spondylometaepiphyseal dysplasia anauxetic type" RELATED [GARD:0009657]
synonym: "spondylometaepiphyseal dysplasia Menger type" RELATED [GARD:0009657]
synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640]
xref: DOID:0050640 {source="MONDO:equivalentTo"}
xref: GARD:0009657 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:93347/attributed", source="ORDO:93347/ntbt", source="Orphanet:93347"}
xref: MESH:C538256 {source="ORDO:93347/e", source="MONDO:equivalentTo", source="Orphanet:93347", source="MONDO:ontobio"}
xref: OMIMPS:607095 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:93347 {source="MONDO:equivalentTo", source="OMIM:607095"}
xref: UMLS:C1846796 {source="ORDO:93347/e", source="MONDO:equivalentTo", source="OMIM:607095", source="Orphanet:93347", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:CN029084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="DOID:0050640", source="Orphanet:93347"} ! spondyloepiphyseal dysplasia
property_value: exactMatch DOID:0050640
property_value: exactMatch http://identifiers.org/mesh/C538256
property_value: exactMatch http://identifiers.org/omim/607095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029084
property_value: exactMatch Orphanet:93347

[Term]
id: MONDO:0011774
name: autosomal recessive nonsyndromic deafness 30
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 30" EXACT [DOID:0110489]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 30" EXACT [DOID:0110489, MONDORULE:2]
synonym: "deafness, autosomal recessive 30" RELATED [MONDO:Lexical, OMIM:607101]
synonym: "deafness, autosomal recessive 30; DFNB30" RELATED [OMIM:607101]
synonym: "deafness, autosomal recessive type 30" EXACT [MONDORULE:2, OMIM:607101]
synonym: "DFNB30" EXACT [DOID:0110489, MONDO:Lexical, OMIM:607101]
synonym: "MYO3A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110489 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110489"}
xref: MESH:C564624 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607101 {source="DOID:0110489", source="MONDO:equivalentTo"}
xref: UMLS:C1846784 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607101"}
is_a: MONDO:0019588 {source="DC-OMIM:607101", source="DOID:0110489", source="MONDO:Redundant", source="OMIM:607101"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110489
property_value: exactMatch http://identifiers.org/mesh/C564624
property_value: exactMatch http://identifiers.org/omim/607101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846784

[Term]
id: MONDO:0011775
name: nasopharyngeal carcinoma, susceptibility to, 1
def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "nasopharyngeal cancer" RELATED [OMIM:607107]
synonym: "nasopharyngeal carcinoma" RELATED [OMIM:607107]
synonym: "nasopharyngeal carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "nasopharyngeal carcinoma, susceptibility to, 1" EXACT [OMIM:607107]
synonym: "NPC" RELATED [OMIM:607107]
synonym: "Npca" RELATED [OMIM:607107]
synonym: "TP53 nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:607107 {source="MONDO:equivalentTo"}
xref: UMLS:C1846758 {source="OMIM:607107", source="MONDO:equivalentTo"}
is_a: MONDO:0015459 {source="DC-OMIM:607107", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0011775"} ! nasopharyngeal carcinoma
property_value: exactMatch http://identifiers.org/omim/607107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846758

[Term]
id: MONDO:0011776
name: CINCA syndrome
def: "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." [Orphanet:1451]
subset: ordo_disease {source="Orphanet:1451"}
synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380]
synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [DOID:0090029, OMIM:607115]
synonym: "CINCA" RELATED [MONDO:Lexical, OMIM:607115]
synonym: "CINCA syndrome" EXACT [MONDO:Lexical, OMIM:607115]
synonym: "CINCA syndrome; CINCA" RELATED [OMIM:607115]
synonym: "CINCA/NOMID" EXACT [NCIT:C116380]
synonym: "Cryopyrin-associated periodic syndrome 3" RELATED [OMIM:607115]
synonym: "cryopyrin-associated periodic syndrome 3" EXACT [DOID:0090029]
synonym: "infantile onset multisystem inflammatory disease" RELATED [GARD:0001356]
synonym: "infantile-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451]
synonym: "IOMID" RELATED [GARD:0001356]
synonym: "IOMID syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "multisystem inflammatory disease, neonatal-onset" RELATED [OMIM:607115]
synonym: "neonatal onset multisystem inflammatory disease" RELATED [GARD:0001356]
synonym: "neonatal-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451]
synonym: "NOMID" EXACT [NCIT:C116380]
synonym: "NOMID syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356]
synonym: "Prieur-Griscelli syndrome" EXACT [DOID:0090029, Orphanet:1451]
xref: DOID:0090029 {source="MONDO:equivalentTo"}
xref: GARD:0001356 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E85.0 {source="Orphanet:1451", source="DOID:0090029", source="ORDO:1451/attributed", source="ORDO:1451/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116380 {source="MONDO:kboom-pr-1.00/0.91/25.79", source="MONDO:equivalentTo"}
xref: OMIM:607115 {source="Orphanet:1451", source="ORDO:1451/e", source="MONDO:equivalentTo", source="DOID:0090029"}
xref: Orphanet:1451 {source="MONDO:equivalentTo", source="DOID:0090029", source="OMIM:607115"}
xref: SCTID:239826001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
is_a: MONDO:0016168 {source="Orphanet:1451", source="linkedlifedata"} ! cryopyrin-associated periodic syndrome
is_a: MONDO:0017259 {source="Orphanet:1451"} ! systemic diseases with anterior uveitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409818
property_value: exactMatch DOID:0090029
property_value: exactMatch http://identifiers.org/omim/607115
property_value: exactMatch http://identifiers.org/snomedct/239826001
property_value: exactMatch NCIT:C116380
property_value: exactMatch Orphanet:1451

[Term]
id: MONDO:0011777
name: Alzheimer disease 8
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." [DOID:0110041, PMID:9008509]
synonym: "AD8" EXACT [DOID:0110041]
synonym: "Ad8" RELATED [OMIM:607116]
synonym: "Alzheimer disease 8" EXACT [DOID:0110041, OMIM:607116]
synonym: "Alzheimer disease type 8" EXACT [MONDORULE:1, OMIM:607116]
synonym: "Alzheimer disease, familial 8" EXACT [DOID:0110041]
synonym: "Alzheimer disease, familial, 8" RELATED [OMIM:607116]
synonym: "Alzheimer's disease 8" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 8" EXACT [DOID:0110041, MONDORULE:1]
xref: DOID:0110041 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110041"}
xref: MESH:C564622 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607116 {source="MONDO:equivalentTo", source="DOID:0110041"}
xref: UMLS:C1846735 {source="OMIM:607116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110041
property_value: exactMatch http://identifiers.org/mesh/C564622
property_value: exactMatch http://identifiers.org/omim/607116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846735

[Term]
id: MONDO:0011778
name: multiple epiphyseal dysplasia, Al-Gazali type
def: "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism." [Orphanet:166024]
subset: ordo_disease {source="Orphanet:166024"}
synonym: "AGBK" RELATED [OMIM:607131]
synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131]
synonym: "AL-Gazali-BAKALINOVA syndrome; AGBK" RELATED [OMIM:607131]
synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131]
synonym: "Mmedf" RELATED [OMIM:607131]
synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024]
xref: ICD10:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="ORDO:166024/attributed", source="ORDO:166024/ntbt"}
xref: MESH:C564621 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607131 {source="Orphanet:166024", source="ORDO:166024/e", source="MONDO:equivalentTo"}
xref: Orphanet:166024 {source="MONDO:equivalentTo", source="OMIM:607131"}
xref: SCTID:719688002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0016648 {source="Orphanet:166024", source="linkedlifedata"} ! multiple epiphyseal dysplasia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846722
property_value: exactMatch http://identifiers.org/mesh/C564621
property_value: exactMatch http://identifiers.org/omim/607131
property_value: exactMatch http://identifiers.org/snomedct/719688002
property_value: exactMatch Orphanet:166024

[Term]
id: MONDO:0011779
name: laryngeal atresia, encephalocele, and limb deformities
synonym: "laryngeal atresia, encephalocele, and limb deformities" EXACT [OMIM:607132]
synonym: "Lel" RELATED [OMIM:607132]
xref: MESH:C564620 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607132 {source="MONDO:equivalentTo"}
xref: UMLS:C1846721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607132"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564620
property_value: exactMatch http://identifiers.org/omim/607132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846721

[Term]
id: MONDO:0011780
name: specific language impairment 3
synonym: "SLI3" EXACT [MONDO:Lexical, OMIM:607134]
synonym: "specific language impairment 3" RELATED [OMIM:607134]
synonym: "specific language impairment 3; SLI3" RELATED [OMIM:607134]
synonym: "specific language impairment quantitative trait locus on chromosome 13" RELATED [OMIM:607134]
xref: OMIM:607134 {source="MONDO:equivalentTo"}
xref: UMLS:C1846719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607134"}
is_a: MONDO:0000724 {source="DC-OMIM:607134", source="OMIM:607134"} ! specific language impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/607134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846719

[Term]
id: MONDO:0011781
name: spinocerebellar ataxia type 17
def: "Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." [Orphanet:98759]
subset: ordo_disease {source="Orphanet:98759"}
synonym: "HDL4" EXACT [Orphanet:98759]
synonym: "Huntington disease-like 4" EXACT [Orphanet:98759]
synonym: "Huntington disease-like 4" RELATED [OMIM:607136]
synonym: "SCA 17" RELATED [GARD:0010469]
synonym: "SCA17" EXACT [MONDO:Lexical, OMIM:607136, Orphanet:98759]
synonym: "spinocerebellar ataxia 17" RELATED [MONDO:Lexical, OMIM:607136]
synonym: "spinocerebellar ataxia 17; SCA17" RELATED [OMIM:607136]
synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136]
xref: DOID:0050967 {source="MONDO:equivalentTo"}
xref: GARD:0010469 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:98759/attributed", source="ORDO:98759/ntbt", source="Orphanet:98759"}
xref: MESH:C564616 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607136 {source="ORDO:98759/e", source="MONDO:equivalentTo", source="Orphanet:98759", source="DOID:0050967"}
xref: Orphanet:98759 {source="MONDO:equivalentTo", source="OMIM:607136"}
xref: SCTID:719249005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1846707 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98759", source="OMIM:607136"}
is_a: MONDO:0015548 {source="Orphanet:98759"} ! Huntington disease-like syndrome
is_a: MONDO:0017662 {source="Orphanet:98759"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0019792 {source="Orphanet:98759"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050967
property_value: exactMatch http://identifiers.org/mesh/C564616
property_value: exactMatch http://identifiers.org/omim/607136
property_value: exactMatch http://identifiers.org/snomedct/719249005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846707
property_value: exactMatch Orphanet:98759

[Term]
id: MONDO:0011782
name: angioid streaks
def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793]
synonym: "angioid streaks" EXACT [OMIM:607140]
xref: DOID:13401 {source="EFO:1000805", source="MONDO:equivalentTo"}
xref: EFO:1000805 {source="MONDO:equivalentTo"}
xref: MedDRA:10066191 {source="EFO:1000805"}
xref: MESH:D000793 {source="EFO:1000805", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13401"}
xref: OMIM:607140 {source="MONDO:equivalentTo", source="DOID:13401"}
xref: UMLS:C0002982 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607140", source="DOID:13401"}
is_a: MONDO:0005283 {source="DOID:13401", source="MESH:D000793"} ! retinal disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/meddra/10066191
property_value: exactMatch DOID:13401
property_value: exactMatch http://identifiers.org/mesh/D000793
property_value: exactMatch http://identifiers.org/omim/607140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002982

[Term]
id: MONDO:0011783
name: ALG12-CDG
def: "(22q13.33)." [Orphanet:79324]
subset: ordo_disease {source="Orphanet:79324"}
synonym: "ALG12-CDG (CDG-Ig)" RELATED [GARD:0009833]
synonym: "ALG12-congenital disorder of glycosylation" RELATED [GARD:0009833]
synonym: "carbohydrate deficient glycoprotein syndrome type Ig" EXACT [Orphanet:79324]
synonym: "CDG 1G" RELATED [GARD:0009833]
synonym: "CDG Ig" RELATED [OMIM:607143]
synonym: "CDG syndrome type Ig" EXACT [Orphanet:79324]
synonym: "CDG-Ig" EXACT [Orphanet:79324]
synonym: "CDG1G" EXACT [MONDO:Lexical, OMIM:607143, Orphanet:79324]
synonym: "CDGIg" EXACT [NCIT:C126873]
synonym: "congenital disorder of glycosylation type 1g" EXACT [Orphanet:79324]
synonym: "congenital disorder of glycosylation type Ig" EXACT [Orphanet:79324]
synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, OMIM:607143]
synonym: "congenital disorder of glycosylation, type Ig; CDG1G" RELATED [OMIM:607143]
synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324]
xref: GARD:0009833 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79324/attributed", source="ORDO:79324/ntbt", source="Orphanet:79324"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535745 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126873 {source="MONDO:equivalentTo"}
xref: OMIM:607143 {source="MONDO:equivalentTo", source="ORDO:79324/e", source="Orphanet:79324"}
xref: Orphanet:79324 {source="MONDO:equivalentTo", source="OMIM:607143"}
xref: SCTID:711155008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.96"}
xref: UMLS:C2931001 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:607143", source="Orphanet:79324"}
is_a: MONDO:0005500 {source="DC-OMIM:607143", source="MONDOLEX:0011783"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation
is_a: MONDO:0018284 {source="Orphanet:79324"} ! congenital disorder of glycosylation with neurological involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846695
property_value: exactMatch http://identifiers.org/mesh/C535745
property_value: exactMatch http://identifiers.org/omim/607143
property_value: exactMatch http://identifiers.org/snomedct/711155008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931001
property_value: exactMatch NCIT:C126873
property_value: exactMatch Orphanet:79324

[Term]
id: MONDO:0011784
name: Moyamoya disease 2
def: "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, OMIM:607151]
synonym: "Moyamoya disease 2; MYMY2" RELATED [OMIM:607151]
synonym: "Moyamoya disease caused by mutation in RNF213" EXACT [MONDO:design_pattern]
synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1, OMIM:607151]
synonym: "MYMY2" RELATED [MONDO:Lexical, OMIM:607151]
synonym: "RNF213 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C536992 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607151 {source="MONDO:equivalentTo"}
xref: UMLS:C1846689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607151"}
is_a: MONDO:0016820 {source="DC-OMIM:607151", source="MESH:C536992", source="MONDO:Redundant", source="OMIM:607151"} ! Moyamoya disease
property_value: exactMatch http://identifiers.org/mesh/C536992
property_value: exactMatch http://identifiers.org/omim/607151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846689

[Term]
id: MONDO:0011785
name: hereditary spastic paraplegia 19
def: "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." [Orphanet:100999]
subset: ordo_disease {source="Orphanet:100999"}
synonym: "autosomal dominant spastic paraplegia 19" EXACT [DOID:0110772]
synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772]
synonym: "hereditary spastic paraplegia type 19" EXACT [DOID:0110772, MONDORULE:2]
synonym: "spastic paraplegia 19" RELATED [GARD:0009588]
synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607152]
synonym: "spastic paraplegia 19, autosomal dominant; SPG19" RELATED [OMIM:607152]
synonym: "SPG19" EXACT [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999]
xref: DOID:0110772 {source="MONDO:equivalentTo"}
xref: GARD:0009588 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100999/attributed", source="ORDO:100999/ntbt", source="Orphanet:100999", source="DOID:0110772"}
xref: MESH:C536856 {source="MONDO:equivalentTo", source="ORDO:100999/e", source="MONDO:ontobio", source="Orphanet:100999"}
xref: OMIM:607152 {source="MONDO:equivalentTo", source="ORDO:100999/e", source="Orphanet:100999", source="DOID:0110772"}
xref: Orphanet:100999 {source="MONDO:equivalentTo", source="OMIM:607152", source="DOID:0110772"}
xref: SCTID:763375003 {source="MONDO:equivalentTo"}
xref: UMLS:C1846685 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100999/e", source="OMIM:607152", source="Orphanet:100999"}
is_a: MONDO:0015088 {source="Orphanet:100999"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110772
property_value: exactMatch http://identifiers.org/mesh/C536856
property_value: exactMatch http://identifiers.org/omim/607152
property_value: exactMatch http://identifiers.org/snomedct/763375003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846685
property_value: exactMatch Orphanet:100999

[Term]
id: MONDO:0011786
name: allergic rhinitis
def: "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." [NCIT:C79532]
synonym: "allergic form of rhinitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic rhinitis" EXACT [NCIT:C79532, OMIM:607154]
synonym: "Alrh" RELATED [OMIM:607154]
synonym: "atopic rhinitis" EXACT [DOID:4481]
synonym: "hay fever" EXACT EXCLUDE [DOID:4481]
synonym: "non-seasonal allergic rhinitis" NARROW [DOID:4481]
synonym: "Perenial allergic rhinitis" NARROW [DOID:4481]
synonym: "perennial allergic rhinitis" NARROW [DOID:4481]
synonym: "pollenosis" EXACT [CSP2005:1524-8625, CSP2005:1525-2316, DOID:4481]
synonym: "seasonal allergic rhinitis" NARROW [DOID:4481]
xref: COHD:257007 {source="MONDO:equivalentTo"}
xref: DOID:4481 {source="EFO:0005854", source="MONDO:equivalentTo"}
xref: EFO:0005854 {source="MONDO:equivalentTo"}
xref: HP:0003193 {source="EFO:0005854", source="MONDO:otherHierarchy"}
xref: ICD9:477 {source="EFO:0005854"}
xref: ICD9:477.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:477.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C79532 {source="EFO:0005854", source="MONDO:equivalentTo"}
xref: OMIM:607154 {source="EFO:0005854", source="MONDO:equivalentTo", source="DOID:4481"}
xref: SCTID:61582004 {source="EFO:0005854", source="MONDO:kboom-pr-0.83/0.56/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C2607914 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C79532", source="OMIM:607154"}
is_a: MONDO:0000771 ! allergic respiratory disease
is_a: MONDO:0003014 {source="DOID:4481", source="MONDO:Redundant", source="NCIT:C79532", source="linkedlifedata"} ! rhinitis
property_value: closeMatch http://identifiers.org/snomedct/38103000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002103
property_value: closeMatch NCIT:C34987
property_value: exactMatch DOID:4481
property_value: exactMatch http://identifiers.org/omim/607154
property_value: exactMatch http://identifiers.org/snomedct/61582004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607914
property_value: exactMatch NCIT:C79532

[Term]
id: MONDO:0011787
name: autosomal recessive limb-girdle muscular dystrophy type 2I
def: "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." [Orphanet:34515]
subset: ordo_disease {source="Orphanet:34515"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern]
synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2I" EXACT [DOID:0110299, Orphanet:34515]
synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [DOID:0110299, Orphanet:34515]
synonym: "limb-girdle muscular dystrophy type 2I" RELATED [GARD:0012533]
synonym: "MDDGC5" EXACT [DOID:0110299, MONDO:Lexical, OMIM:607155]
synonym: "muscular dystrophy limb-girdle type 2I" EXACT [DOID:0110299]
synonym: "muscular dystrophy, limb-girdle, type 2I" RELATED [OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [DOID:0110299]
synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" EXACT [NCIT:C126739]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" RELATED [MONDO:Lexical, OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; MDDGC5" RELATED [OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [DOID:0110299]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155]
xref: DOID:0110299 {source="MONDO:equivalentTo"}
xref: GARD:0012533 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:34515", source="ORDO:34515/inclusion", source="ORDO:34515/ntbt", source="DOID:0110299"}
xref: MESH:C564612 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126739 {source="MONDO:equivalentTo"}
xref: OMIM:607155 {source="ORDO:34515/e", source="Orphanet:34515", source="MONDO:equivalentTo", source="DOID:0110299"}
xref: Orphanet:34515 {source="MONDO:equivalentTo", source="OMIM:607155", source="DOID:0110299"}
xref: SCTID:718180000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0015152 {source="DOID:0110299", source="MONDO:Redundant", source="MONDOLEX:0011787", source="OMIM:607155", source="Orphanet:34515"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016156 {source="Orphanet:34515"} ! qualitative or quantitative defects of FKRP
is_a: MONDO:0017745 {source="Orphanet:34515"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018284 {source="Orphanet:34515"} ! congenital disorder of glycosylation with neurological involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846672
property_value: exactMatch DOID:0110299
property_value: exactMatch http://identifiers.org/mesh/C564612
property_value: exactMatch http://identifiers.org/omim/607155
property_value: exactMatch http://identifiers.org/snomedct/718180000
property_value: exactMatch NCIT:C126739
property_value: exactMatch Orphanet:34515

[Term]
id: MONDO:0011788
name: cloverleaf skull-multiple congenital anomalies syndrome
def: "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." [Orphanet:93267]
subset: ordo_malformation_syndrome {source="Orphanet:93267"}
synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161]
xref: ICD10:Q87.8 {source="Orphanet:93267", source="ORDO:93267/attributed", source="ORDO:93267/ntbt"}
xref: MESH:C564611 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607161 {source="ORDO:93267/e", source="Orphanet:93267", source="MONDO:equivalentTo"}
xref: Orphanet:93267 {source="MONDO:equivalentTo", source="OMIM:607161"}
xref: SCTID:717771007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C1846671 {source="Orphanet:93267", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607161"}
is_a: MONDO:0015338 {source="Orphanet:93267"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C564611
property_value: exactMatch http://identifiers.org/omim/607161
property_value: exactMatch http://identifiers.org/snomedct/717771007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846671
property_value: exactMatch Orphanet:93267

[Term]
id: MONDO:0011789
name: familial meningioma
def: "A meningioma that is transmitted from the parents to an offspring." [NCIT:P378]
synonym: "familial meningioma" EXACT [NCIT:C5301]
synonym: "hereditary meningioma" EXACT [NCIT:C5301]
synonym: "hereditary meningioma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "meningioma, familial, susceptibility to" RELATED [OMIM:607174]
synonym: "susceptibility to familial meningioma" RELATED [OMIM:607174]
xref: DOID:4586 {source="MONDO:equivalentTo"}
xref: MESH:C537443 {source="DOID:4586", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C5301 {source="DOID:4586", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:607174 {source="DOID:4586", source="MONDO:equivalentTo"}
xref: UMLS:C1333989 {source="DOID:4586", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C5301"}
is_a: MONDO:0016642 ! meningioma (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 {source="OMIM:607174"} ! inherited disease susceptibility
intersection_of: MONDO:0016642 ! meningioma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3551915
property_value: exactMatch DOID:4586
property_value: exactMatch http://identifiers.org/mesh/C537443
property_value: exactMatch http://identifiers.org/omim/607174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333989
property_value: exactMatch NCIT:C5301

[Term]
id: MONDO:0011790
name: Amish lethal microcephaly
def: "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." [Orphanet:99742]
subset: gard_rare {source="GARD:0008606"}
subset: ordo_malformation_syndrome {source="Orphanet:99742"}
synonym: "Amish lethal microcephaly" EXACT [OMIM:607196]
synonym: "MCPHA" RELATED [MONDO:Lexical, OMIM:607196]
synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196]
synonym: "microcephaly, Amish type; MCPHA" RELATED [OMIM:607196]
synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196]
xref: GARD:0008606 {source="MONDO:equivalentTo"}
xref: ICD10:Q02 {source="Orphanet:99742", source="ORDO:99742/attributed", source="ORDO:99742/ntbt"}
xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99742/e"}
xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="ORDO:99742/e"}
xref: Orphanet:99742 {source="MONDO:equivalentTo", source="OMIM:607196"}
xref: SCTID:702437000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1846648 {source="Orphanet:99742", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607196"}
is_a: MONDO:0000152 {source="DC-OMIM:607196", source="OMIM:607196"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017119 {source="Orphanet:99742"} ! syndrome with microcephaly as major feature
property_value: exactMatch http://identifiers.org/mesh/C538247
property_value: exactMatch http://identifiers.org/omim/607196
property_value: exactMatch http://identifiers.org/snomedct/702437000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846648
property_value: exactMatch Orphanet:99742
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly xsd:anyURI {source="GARD:0008606"}

[Term]
id: MONDO:0011791
name: obsolete deafness, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0019588

[Term]
id: MONDO:0011792
name: thyroid dyshormonogenesis 6
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DUOX2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOX2" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [OMIM:607200]
synonym: "TDH6" RELATED [MONDO:Lexical, OMIM:607200]
synonym: "thyroid dyshormonogenesis 6" EXACT [MONDO:Lexical, OMIM:607200]
synonym: "thyroid dyshormonogenesis 6; TDH6" RELATED [OMIM:607200]
synonym: "thyroid dyshormonogenesis type 6" EXACT [MONDORULE:1, OMIM:607200]
synonym: "thyroid hormonogenesis, genetic defect in, 6" RELATED [OMIM:607200]
xref: MESH:C564608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607200 {source="MONDO:equivalentTo"}
xref: UMLS:C1846632 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607200"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/mesh/C564608
property_value: exactMatch http://identifiers.org/omim/607200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846632

[Term]
id: MONDO:0011793
name: CELIAC5
subset: predisposition
synonym: "celiac disease, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:607202]
synonym: "celiac disease, susceptibility to, 5; CELIAC5" RELATED [OMIM:607202]
synonym: "CELIAC5" EXACT [MONDO:Lexical, OMIM:607202]
synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [OMIM:607202]
synonym: "GSES" RELATED [OMIM:607202]
xref: OMIM:607202 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:607202", source="OMIM:607202"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846631
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/607202

[Term]
id: MONDO:0011794
name: obsolete Dravet syndrome
def: "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." [Orphanet:33069]
comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
subset: ordo_disease {source="Orphanet:33069"}
synonym: "DS" EXACT [Orphanet:33069]
synonym: "EIEE6" RELATED [MONDO:Lexical, OMIM:607208]
synonym: "epileptic encephalopathy, early infantile, 6" RELATED [MONDO:Lexical, OMIM:607208]
synonym: "epileptic encephalopathy, early infantile, 6; EIEE6" RELATED [OMIM:607208]
synonym: "epileptic encephalopathy, early infantile, type 6" RELATED [MONDORULE:1, OMIM:607208]
synonym: "severe myoclonic epilepsy in infancy" EXACT [DOID:0060171]
synonym: "severe myoclonic epilepsy of infancy" EXACT [OMIM:607208, Orphanet:33069]
synonym: "severe myoclonus epilepsy of infancy" EXACT [Orphanet:33069]
synonym: "SMEI" EXACT [DOID:0060171, Orphanet:33069]
xref: ICD10:G40.4 {source="ORDO:33069/attributed", source="ORDO:33069/ntbt", source="Orphanet:33069"}
xref: Orphanet:33069 {source="OMIM:607208", source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:33069
is_obsolete: true
replaced_by: MONDO:0100135

[Term]
id: MONDO:0011795
name: anonychia-microcephaly syndrome
def: "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." [Orphanet:1094]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1094"}
synonym: "anonychia total with microcephaly" RELATED [GARD:0000709]
synonym: "anonychia, total, with microcephaly" RELATED [OMIM:607214]
synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094]
synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709]
synonym: "total anonychia with microcephaly" RELATED [GARD:0000709]
xref: GARD:0000709 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1094/attributed", source="ORDO:1094/ntbt", source="Orphanet:1094"}
xref: OMIM:607214 {source="GARD:0000709", source="MONDO:equivalentTo", source="ORDO:1094/e", source="Orphanet:1094"}
xref: Orphanet:1094 {source="MONDO:equivalentTo", source="OMIM:607214"}
xref: SCTID:720494009 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0043008 {source="Orphanet:1094"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846617
property_value: exactMatch http://identifiers.org/mesh/C536948
property_value: exactMatch http://identifiers.org/omim/607214
property_value: exactMatch http://identifiers.org/snomedct/720494009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931373
property_value: exactMatch Orphanet:1094
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly xsd:anyURI {source="GARD:0000709"}

[Term]
id: MONDO:0011796
name: PEPS
synonym: "epilepsy, partial, with pericentral spikes" RELATED [MONDO:Lexical, OMIM:607221]
synonym: "epilepsy, partial, with pericentral spikes; PEPS" RELATED [OMIM:607221]
synonym: "Epps" RELATED [OMIM:607221]
synonym: "PEPS" EXACT [MONDO:Lexical, OMIM:607221]
xref: MESH:C564605 {source="MONDO:equivalentTo"}
xref: OMIM:607221 {source="MONDO:equivalentTo"}
xref: UMLS:C1846609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607221"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564605
property_value: exactMatch http://identifiers.org/omim/607221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846609

[Term]
id: MONDO:0011797
name: infantile-onset ascending hereditary spastic paralysis
def: "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." [Orphanet:293168]
subset: gard_rare {source="GARD:0004914"}
subset: ordo_disease {source="Orphanet:293168"}
synonym: "IAHSP" EXACT [MONDO:Lexical, OMIM:607225, Orphanet:293168]
synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914]
synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225]
synonym: "spastic paralysis, infantile-onset ascending; IAHSP" RELATED [OMIM:607225]
xref: GARD:0004914 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:293168/attributed", source="ORDO:293168/ntbt", source="Orphanet:293168"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537217 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607225 {source="MONDO:equivalentTo", source="Orphanet:293168", source="ORDO:293168/e"}
xref: Orphanet:293168 {source="MONDO:equivalentTo", source="OMIM:607225"}
xref: SCTID:703543005 {source="MONDO:kboom-pr-1.00/0.79/7.45", source="MONDO:equivalentTo"}
xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="Orphanet:293168", source="ORDO:293168/e", source="OMIM:607225"}
is_a: MONDO:0020128 {source="Orphanet:293168", source="Orphanet:293168/inferred"} ! motor neuron disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846588
property_value: exactMatch http://identifiers.org/mesh/C537217
property_value: exactMatch http://identifiers.org/omim/607225
property_value: exactMatch http://identifiers.org/snomedct/703543005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931441
property_value: exactMatch Orphanet:293168
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis xsd:anyURI {source="GARD:0004914"}

[Term]
id: MONDO:0011798
name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
synonym: "harp syndrome" RELATED [OMIM:607236]
synonym: "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" EXACT [OMIM:607236]
xref: MESH:C564603 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607236 {source="MONDO:equivalentTo"}
xref: Orphanet:157855 {source="MONDO:equivalentTo", source="OMIM:607236"}
xref: UMLS:C1846582 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607236"}
is_a: MONDO:0003847 {source="MESH:C564603/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564603
property_value: exactMatch http://identifiers.org/omim/607236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846582
property_value: exactMatch Orphanet:157855

[Term]
id: MONDO:0011799
name: autosomal recessive nonsyndromic deafness 33
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1." [DOID:0110492, PMID:12080392]
synonym: "autosomal recessive deafness 33" EXACT [DOID:0110492]
synonym: "autosomal recessive nonsyndromic deafness type 33" EXACT [DOID:0110492, MONDORULE:2]
synonym: "deafness, autosomal recessive 33" RELATED [MONDO:Lexical, OMIM:607239]
synonym: "deafness, autosomal recessive 33; DFNB33" RELATED [OMIM:607239]
synonym: "DFNB33" EXACT [DOID:0110492, MONDO:Lexical, OMIM:607239]
xref: DOID:0110492 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110492"}
xref: MESH:C564602 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607239 {source="MONDO:equivalentTo", source="DOID:0110492"}
xref: UMLS:C1846576 {source="OMIM:607239", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:607239", source="DOID:0110492", source="OMIM:607239"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110492
property_value: exactMatch http://identifiers.org/mesh/C564602
property_value: exactMatch http://identifiers.org/omim/607239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846576

[Term]
id: MONDO:0011800
name: GLM4
synonym: "glioma susceptibility 4" RELATED [MONDO:Lexical, OMIM:607248]
synonym: "glioma susceptibility 4; GLM4" RELATED [OMIM:607248]
synonym: "GLM4" EXACT [MONDO:Lexical, OMIM:607248]
xref: OMIM:607248 {source="MONDO:equivalentTo"}
xref: UMLS:C2750944 {source="OMIM:607248", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:607248"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: exactMatch http://identifiers.org/omim/607248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750944

[Term]
id: MONDO:0011801
name: spinocerebellar ataxia type 1 with axonal neuropathy
def: "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." [Orphanet:94124]
subset: ordo_disease {source="Orphanet:94124"}
synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" EXACT [DOID:0090115]
synonym: "SCAN1" EXACT [DOID:0090115, MONDO:Lexical, OMIM:607250, Orphanet:94124]
synonym: "spinocerebellar ataxia autosomal recessive with axonal neuropathy" RELATED [GARD:0010000]
synonym: "spinocerebellar ataxia with axonal neuropathy" RELATED [GARD:0010000]
synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [Orphanet:94124]
synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" RELATED [MONDO:Lexical, OMIM:607250]
synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; SCAN1" RELATED [OMIM:607250]
xref: DOID:0090115 {source="MONDO:equivalentTo"}
xref: GARD:0010000 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:10000 {source="DOID:0090115"}
xref: ICD10:G60.2 {source="Orphanet:94124", source="DOID:0090115", source="ORDO:94124/attributed", source="ORDO:94124/ntbt"}
xref: MESH:C537313 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607250 {source="ORDO:94124/e", source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115"}
xref: Orphanet:94124 {source="MONDO:equivalentTo", source="OMIM:607250", source="DOID:0090115"}
xref: SCTID:765091006 {source="MONDO:equivalentTo"}
xref: UMLS:C1846574 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:94124", source="MONDO:equivalentTo", source="OMIM:607250"}
is_a: MONDO:0020045 {source="Orphanet:94124"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
is_a: MONDO:0020127 {source="Orphanet:94124"} ! genetic peripheral neuropathy
property_value: exactMatch DOID:0090115
property_value: exactMatch http://identifiers.org/mesh/C537313
property_value: exactMatch http://identifiers.org/omim/607250
property_value: exactMatch http://identifiers.org/snomedct/765091006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846574
property_value: exactMatch Orphanet:94124

[Term]
id: MONDO:0011802
name: hypercalciuria, absorptive, 1
synonym: "Hca1" RELATED [OMIM:607258]
synonym: "hypercalciuria, absorptive, 1" EXACT [OMIM:607258]
synonym: "hypercalciuria, absorptive, type 1" EXACT [MONDORULE:1, OMIM:607258]
xref: MESH:C564600 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607258 {source="MONDO:equivalentTo"}
xref: UMLS:C1846573 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607258"}
is_a: MONDO:0016352 {source="ORDO:2197/btnt"} ! idiopathic inherited hypercalciuria
property_value: exactMatch http://identifiers.org/mesh/C564600
property_value: exactMatch http://identifiers.org/omim/607258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846573

[Term]
id: MONDO:0011803
name: hereditary spastic paraplegia 7
def: "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." [Orphanet:99013]
subset: ordo_disease {source="Orphanet:99013"}
synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816]
synonym: "hereditary spastic paraplegia caused by mutation in SPG7" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia paraplegin type" RELATED [GARD:0004927]
synonym: "hereditary spastic paraplegia type 7" EXACT [DOID:0110816, MONDORULE:1]
synonym: "spastic paraplegia 7" RELATED [GARD:0004927]
synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607259]
synonym: "spastic paraplegia 7, autosomal recessive; SPG7" RELATED [OMIM:607259]
synonym: "spastic paraplegia type 7" EXACT [DOID:0110816]
synonym: "SPG7" EXACT [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013]
synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110816 {source="MONDO:equivalentTo"}
xref: GARD:0004927 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:99013/attributed", source="ORDO:99013/ntbt", source="DOID:0110816", source="Orphanet:99013"}
xref: OMIM:607259 {source="MONDO:equivalentTo", source="DOID:0110816", source="ORDO:99013/e", source="Orphanet:99013"}
xref: Orphanet:99013 {source="OMIM:607259", source="MONDO:equivalentTo", source="DOID:0110816"}
xref: SCTID:715776003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1846564 {source="OMIM:607259", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99013"}
xref: UMLS:C3711370 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:99013"}
is_a: MONDO:0000557 {source="Orphanet:99013"} ! hereditary ataxia
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015150 ! complex hereditary spastic paraplegia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0017915 {source="Orphanet:99013"} ! pure or complex autosomal recessive spastic paraplegia
is_a: MONDO:0018157 {source="Orphanet:99013"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0018609 {source="Orphanet:99013"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0022687 ! cerebellar degeneration
property_value: exactMatch DOID:0110816
property_value: exactMatch http://identifiers.org/omim/607259
property_value: exactMatch http://identifiers.org/snomedct/715776003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711370
property_value: exactMatch Orphanet:99013

[Term]
id: MONDO:0011804
name: autoimmune lymphoproliferative syndrome type 2B
def: "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." [Orphanet:275517]
subset: ordo_disease {source="Orphanet:275517"}
synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517]
synonym: "ALPS2B" EXACT [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [OMIM:607271]
synonym: "CASP8 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "caspase 8 deficiency" EXACT [DOID:0110116, OMIM:607271]
synonym: "caspase 8 deficiency syndrome" EXACT [DOID:0110116, Orphanet:275517]
synonym: "caspase eight deficiency state" EXACT [DOID:0110116]
synonym: "caspase-8 deficiency" RELATED [GARD:0009796]
synonym: "CEDS" EXACT [DOID:0110116, Orphanet:275517]
synonym: "Ceds" RELATED [OMIM:607271]
xref: DOID:0110116 {source="MONDO:equivalentTo"}
xref: GARD:0009796 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D47.9 {source="DOID:0110116", source="Orphanet:275517", source="ORDO:275517/attributed", source="ORDO:275517/ntbt"}
xref: OMIM:607271 {source="DOID:0110116", source="MONDO:equivalentTo", source="Orphanet:275517", source="ORDO:275517/e"}
xref: Orphanet:275517 {source="DOID:0110116", source="MONDO:equivalentTo", source="OMIM:607271"}
xref: SCTID:722290008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
is_a: MONDO:0017979 {source="DC-OMIM:607271", source="DOID:0110116", source="MONDO:Redundant", source="MONDOLEX:0011804"} ! autoimmune lymphoproliferative syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846545
property_value: exactMatch DOID:0110116
property_value: exactMatch http://identifiers.org/omim/607271
property_value: exactMatch http://identifiers.org/snomedct/722290008
property_value: exactMatch Orphanet:275517

[Term]
id: MONDO:0011805
name: asthma-related traits, susceptibility to, 1
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AS1" RELATED [OMIM:607277]
synonym: "ASRT1" RELATED [OMIM:607277]
synonym: "asthma-related traits, susceptibility to, 1" EXACT [OMIM:607277]
synonym: "asthma-related traits, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607277]
synonym: "inherited susceptibility to asthma caused by mutation in PTGDR" EXACT [MONDO:design_pattern]
synonym: "PTGDR inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:607277 {source="MONDO:equivalentTo"}
xref: UMLS:C1846534 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607277"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0011805"} ! inherited susceptibility to asthma
property_value: exactMatch http://identifiers.org/omim/607277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846534

[Term]
id: MONDO:0011806
name: osteofibrous dysplasia
def: "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." [NCIT:C53970]
subset: ordo_disease
synonym: "cortical fibrous dysplasia" EXACT [NCIT:C53970]
synonym: "Kempson-Campanacci lesion" EXACT [NCIT:C53970]
synonym: "OFD" EXACT [Orphanet:488265]
synonym: "OSFD" RELATED [OMIM:607278]
synonym: "ossifying fibroma of long bones" EXACT [NCIT:C53970]
synonym: "osteofibrous dysplasia" EXACT [OMIM:607278]
synonym: "osteofibrous dysplasia of bone" EXACT [NCIT:C53970]
synonym: "osteofibrous dysplasia, susceptibility to" RELATED [OMIM:607278]
synonym: "osteofibrous dysplasia, susceptibility to; OSFD" RELATED [OMIM:607278]
xref: MESH:C563276 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C53970 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: OMIM:607278 {source="MONDO:equivalentTo", source="Orphanet:488265"}
xref: Orphanet:488265 {source="MONDO:equivalentTo"}
xref: UMLS:C1709353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C53970", source="OMIM:607278"}
is_a: MONDO:0018230 {source="Orphanet:488265"} ! primary bone dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C563276
property_value: exactMatch http://identifiers.org/omim/607278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709353
property_value: exactMatch NCIT:C53970
property_value: exactMatch Orphanet:488265

[Term]
id: MONDO:0011807
name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1
subset: predisposition
synonym: "SLEH1" EXACT [MONDO:Lexical, OMIM:607279]
synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607279]
synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1; SLEH1" EXACT [OMIM:607279]
synonym: "systemic lupus erythematosus, hemolytic Anemia-related" EXACT [OMIM:607279]
xref: OMIM:607279 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846533
property_value: exactMatch http://identifiers.org/omim/607279

[Term]
id: MONDO:0011808
name: cataract 27
def: "A cataract that has_material_basis_in mutation in the region 2p12." [DOID:0110233, PMID:12091400]
synonym: "cataract 27" EXACT [MONDO:Lexical, OMIM:607304]
synonym: "cataract 27 nuclear progressive" EXACT [DOID:0110233]
synonym: "cataract 27, nuclear progressive" RELATED [OMIM:607304]
synonym: "cataract 27; CTRCT27" RELATED [OMIM:607304]
synonym: "cataract type 27" EXACT [DOID:0110233, MONDORULE:2]
synonym: "Ccnp" RELATED [OMIM:607304]
synonym: "CTRCT27" EXACT [DOID:0110233, MONDO:Lexical, OMIM:607304]
xref: DOID:0110233 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110233"}
xref: MESH:C564596 {source="MONDO:equivalentTo"}
xref: OMIM:607304 {source="MONDO:equivalentTo", source="DOID:0110233"}
xref: UMLS:C1846520 {source="OMIM:607304", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020376 {source="ORDO:98991/btnt", source="PMID:12091400"} ! early-onset nuclear cataract
property_value: exactMatch DOID:0110233
property_value: exactMatch http://identifiers.org/mesh/C564596
property_value: exactMatch http://identifiers.org/omim/607304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846520

[Term]
id: MONDO:0011809
name: obsolete mammographic density
synonym: "mammographic density" EXACT [OMIM:607308]
xref: MESH:C564595 {source="MONDO:obsoleteEquivalent", source="MONDO:ontobio"}
xref: OMIM:607308 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1268717
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846502
property_value: exactMatch http://identifiers.org/mesh/C564595
property_value: exactMatch http://identifiers.org/omim/607308
is_obsolete: true

[Term]
id: MONDO:0011810
name: horizontal gaze palsy with progressive scoliosis
def: "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." [Orphanet:2744]
subset: gard_rare {source="GARD:0012682"}
subset: ordo_disease {source="Orphanet:2744"}
subset: prototype_pattern
synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical, OMIM:607313]
synonym: "gaze palsy, familial horizontal, with progressive scoliosis; HGPPS" RELATED [OMIM:607313]
synonym: "gaze palsy, horizontal, with progressive scoliosis" RELATED [GARD:0012682]
synonym: "HGPPS" EXACT [MONDO:Lexical, OMIM:607313, Orphanet:2744]
synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313]
synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744]
xref: GARD:0012682 {source="MONDO:equivalentTo"}
xref: ICD10:H49.4 {source="MONDO:relatedTo", source="ORDO:2744/attributed", source="ORDO:2744/ntbt", source="Orphanet:2744"}
xref: ICD9:737.43 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564593 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:607313 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2744 {source="MONDO:equivalentTo", source="OMIM:607313"}
xref: SCTID:702381007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1846496 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2744", source="OMIM:607313"}
is_a: MONDO:0017120 {source="Orphanet:2744"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0020253 {source="Orphanet:2744"} ! syndrome with a symptomatic strabismus
property_value: exactMatch http://identifiers.org/mesh/C564593
property_value: exactMatch http://identifiers.org/omim/607313
property_value: exactMatch http://identifiers.org/snomedct/702381007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846496
property_value: exactMatch Orphanet:2744
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis xsd:anyURI {source="GARD:0012682"}

[Term]
id: MONDO:0011811
name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
def: "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." [Orphanet:95434]
subset: ordo_disease {source="Orphanet:95434"}
synonym: "SCAR4" EXACT [MONDO:Lexical, OMIM:607317, Orphanet:95434]
synonym: "SCASI" EXACT [Orphanet:95434]
synonym: "spinocerebellar ataxia 24" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia 24 (formerly)" RELATED [GARD:0004952]
synonym: "spinocerebellar ataxia 24, formerly" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia autosomal recessive 4" RELATED [GARD:0004952]
synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317]
synonym: "spinocerebellar ataxia, autosomal recessive 4; SCAR4" RELATED [OMIM:607317]
xref: GARD:0004952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:95434", source="ORDO:95434/attributed", source="ORDO:95434/ntbt"}
xref: MESH:C537310 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607317 {source="ORDO:95434/e", source="Orphanet:95434", source="MONDO:equivalentTo"}
xref: Orphanet:95434 {source="OMIM:607317", source="MONDO:equivalentTo"}
xref: UMLS:C1846492 {source="MEDGEN:kboom-pr98-c99", source="OMIM:607317", source="Orphanet:95434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020047 {source="Orphanet:95434"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C537310
property_value: exactMatch http://identifiers.org/omim/607317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846492
property_value: exactMatch Orphanet:95434

[Term]
id: MONDO:0011812
name: Duane-radial ray syndrome
def: "related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." [Orphanet:93293]
subset: gard_rare {source="GARD:0009182"}
subset: ordo_malformation_syndrome {source="Orphanet:93293"}
synonym: "acrorenocular syndrome" EXACT [DOID:0060747]
synonym: "acrorenoocular syndrome" RELATED [OMIM:607323]
synonym: "DR syndrome" EXACT [DOID:0060747, OMIM:607323]
synonym: "DRRS" RELATED [MONDO:Lexical, OMIM:607323]
synonym: "Duane anomaly with radial abnormalities and deafness" RELATED [GARD:0009182]
synonym: "Duane anomaly with radial Ray abnormalities and deafness" RELATED [OMIM:607323]
synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [DOID:0060747]
synonym: "Duane-radial ray syndrome" EXACT [MONDO:Lexical, OMIM:607323, Orphanet:93293]
synonym: "Duane-radial RAY syndrome; DRRS" RELATED [OMIM:607323]
synonym: "Okihiro syndrome" EXACT [DOID:0060747, OMIM:607323]
xref: DOID:0060747 {source="MONDO:equivalentTo"}
xref: GARD:0009182 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:93293/attributed", source="ORDO:93293/ntbt", source="DOID:0060747", source="Orphanet:93293"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:607323 {source="MONDO:equivalentTo", source="DOID:0060747", source="ORDO:93293/e", source="Orphanet:93293"}
xref: Orphanet:93293 {source="MONDO:equivalentTo", source="DOID:0060747", source="OMIM:607323"}
xref: SCTID:699867001 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0060747", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015246 {source="Orphanet:93293"} ! syndromic anorectal malformation
is_a: MONDO:0017432 {source="Orphanet:93293"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:93293", source="Orphanet:93293/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0020253 {source="Orphanet:93293"} ! syndrome with a symptomatic strabismus
property_value: exactMatch DOID:0060747
property_value: exactMatch http://identifiers.org/omim/607323
property_value: exactMatch http://identifiers.org/snomedct/699867001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1623209
property_value: exactMatch Orphanet:93293
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome xsd:anyURI {source="GARD:0009182"}

[Term]
id: MONDO:0011813
name: polydactyly, postaxial, type A3
synonym: "Papa3" RELATED [OMIM:607324]
synonym: "polydactyly, postaxial, type A3" EXACT [OMIM:607324]
synonym: "polydactyly, postaxial, type A3; PAPA3" RELATED [OMIM:607324]
synonym: "postaxial polydactyly, type A3" RELATED [OMIM:607324]
xref: MESH:C564590 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607324 {source="MONDO:equivalentTo"}
xref: UMLS:C1846452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607324"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/mesh/C564590
property_value: exactMatch http://identifiers.org/omim/607324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846452

[Term]
id: MONDO:0011814
name: Smith-McCort dysplasia 1
def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DYM Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMC" RELATED [OMIM:607326]
synonym: "Smc1" RELATED [MONDO:Lexical, OMIM:607326]
synonym: "Smith-McCort dysplasia 1" EXACT [MONDO:Lexical, OMIM:607326]
synonym: "SMITH-McCort dysplasia 1; Smc1" RELATED [OMIM:607326]
synonym: "Smith-McCort dysplasia caused by mutation in DYM" EXACT [MONDO:design_pattern]
synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1, OMIM:607326]
xref: OMIM:607326 {source="MONDO:equivalentTo"}
xref: UMLS:C3888088 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015799 {source="DC-OMIM:607326", source="MONDO:Redundant", source="OMIM:607326"} ! Smith-McCort dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846431
property_value: exactMatch http://identifiers.org/omim/607326
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888088

[Term]
id: MONDO:0011815
name: hypertension, essential, susceptibility to, 3
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 3" EXACT [OMIM:607329]
synonym: "hypertension, essential, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607329]
synonym: "Hyt3" RELATED [OMIM:607329]
xref: OMIM:607329 {source="MONDO:equivalentTo"}
xref: UMLS:C1846430 {source="NCBI:mim2gene_medline", source="OMIM:607329", source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0011815", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: exactMatch http://identifiers.org/omim/607329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846430

[Term]
id: MONDO:0011816
name: lathosterolosis
def: "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." [Orphanet:46059]
subset: gard_rare {source="GARD:0009711"}
subset: ordo_disease {source="Orphanet:46059"}
synonym: "lathosterolosis" EXACT [OMIM:607330]
synonym: "Sc5D deficiency" RELATED [OMIM:607330]
synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059]
xref: GARD:0009711 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:46059/attributed", source="ORDO:46059/ntbt", source="Orphanet:46059"}
xref: MESH:C537880 {source="MONDO:equivalentTo", source="ORDO:46059/e", source="MONDO:ontobio", source="Orphanet:46059"}
xref: OMIM:607330 {source="MONDO:equivalentTo", source="ORDO:46059/e", source="Orphanet:46059"}
xref: Orphanet:46059 {source="MONDO:equivalentTo", source="OMIM:607330"}
xref: SCTID:719257008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1846421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:46059/e", source="OMIM:607330", source="Orphanet:46059"}
is_a: MONDO:0045017 ! cholesterol biosynthetic process disease
property_value: exactMatch http://identifiers.org/mesh/C537880
property_value: exactMatch http://identifiers.org/omim/607330
property_value: exactMatch http://identifiers.org/snomedct/719257008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846421
property_value: exactMatch Orphanet:46059
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis xsd:anyURI {source="GARD:0009711"}

[Term]
id: MONDO:0011817
name: coronary heart disease, susceptibility to, 1
def: "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Chds1" RELATED [OMIM:607339]
synonym: "coronary artery disease caused by mutation in CX3CR1" EXACT [MONDO:design_pattern]
synonym: "coronary heart disease, susceptibility to, 1" EXACT [OMIM:607339]
synonym: "coronary heart disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607339]
synonym: "CX3CR1 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:607339 {source="MONDO:equivalentTo"}
xref: UMLS:C1846418 {source="OMIM:607339", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDO:Redundant", source="MONDOLEX:0011817"} ! coronary artery disease
property_value: exactMatch http://identifiers.org/omim/607339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846418

[Term]
id: MONDO:0011818
name: isolated focal cortical dysplasia type II
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:268994"}
synonym: "CDT" RELATED [GARD:0010190]
synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190, OMIM:607341]
synonym: "cortical dysplasia of Taylor with balloon cells" RELATED [OMIM:607341]
synonym: "cortical dysplasia of Taylor without balloon cells" RELATED [OMIM:607341]
synonym: "cortical dysplasia of Taylor, dysplasia only" RELATED [OMIM:607341]
synonym: "cortical dysplasia, Taylor type" EXACT [Orphanet:268994]
synonym: "FCD 2A" RELATED [OMIM:607341]
synonym: "FCD 2B" RELATED [OMIM:607341]
synonym: "FCD type II" EXACT [Orphanet:268994]
synonym: "Fcd2" RELATED [OMIM:607341]
synonym: "FCDT" RELATED [GARD:0010190, MONDO:Lexical, OMIM:607341]
synonym: "FCORD2" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia of Taylor" RELATED [MONDO:Lexical, OMIM:607341]
synonym: "focal cortical dysplasia of Taylor, type 2A" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia of Taylor, type 2B" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia of Taylor; FCDT" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia type 2" RELATED [GARD:0010190]
synonym: "focal cortical dysplasia type II" RELATED [GARD:0010190]
synonym: "focal cortical dysplasia, type 2" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type 2A" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type 2B" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type II; FCORD2" RELATED [OMIM:607341]
synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994]
xref: GARD:0010190 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="Orphanet:268994", source="ORDO:268994/attributed", source="ORDO:268994/ntbt"}
xref: MESH:C537067 {source="MONDO:equivalentTo"}
xref: OMIM:607341 {source="ORDO:268994/e", source="Orphanet:268994", source="MONDO:equivalentTo", source="GARD:0010190"}
xref: Orphanet:268994 {source="MONDO:equivalentTo", source="OMIM:607341"}
is_a: MONDO:0019009 {source="Orphanet:268994"} ! isolated focal cortical dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846385
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846386
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846388
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846389
property_value: closeMatch Orphanet:99964
property_value: exactMatch http://identifiers.org/mesh/C537067
property_value: exactMatch http://identifiers.org/omim/607341
property_value: exactMatch Orphanet:268994
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor xsd:anyURI {source="GARD:0010190"}

[Term]
id: MONDO:0011819
name: spinocerebellar ataxia type 19/22
def: "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." [Orphanet:98772]
subset: ordo_disease {source="Orphanet:98772"}
synonym: "SCA19" RELATED [MONDO:Lexical, OMIM:607346]
synonym: "SCA19/22" EXACT [Orphanet:98772]
synonym: "spinocerebellar ataxia 19" RELATED [MONDO:Lexical, OMIM:607346]
synonym: "spinocerebellar ataxia 19 and 22" RELATED [GARD:0012365]
synonym: "spinocerebellar ataxia 19; SCA19" RELATED [OMIM:607346]
synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346]
synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346]
xref: DOID:0050970 {source="MONDO:equivalentTo"}
xref: GARD:0012365 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G11.2 {source="ORDO:98772/attributed", source="ORDO:98772/ntbt", source="Orphanet:98772"}
xref: MESH:C537198 {source="MONDO:equivalentTo", source="ORDO:98772/e", source="Orphanet:98772"}
xref: MESH:C542540 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607346 {source="DOID:0050970", source="MONDO:equivalentTo", source="ORDO:98772/e", source="Orphanet:98772"}
xref: Orphanet:98772 {source="MONDO:equivalentTo", source="OMIM:607346"}
xref: SCTID:719251009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0019792 {source="Orphanet:98772"} ! autosomal dominant cerebellar ataxia type I
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2746067
property_value: closeMatch Orphanet:101107
property_value: exactMatch DOID:0050970
property_value: exactMatch http://identifiers.org/mesh/C537198
property_value: exactMatch http://identifiers.org/mesh/C542540
property_value: exactMatch http://identifiers.org/omim/607346
property_value: exactMatch http://identifiers.org/snomedct/719251009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846367
property_value: exactMatch Orphanet:98772

[Term]
id: MONDO:0011820
name: scoliosis, isolated, susceptibility to, 2
subset: predisposition
synonym: "IS2" EXACT [MONDO:Lexical, OMIM:607354]
synonym: "scoliosis, isolated, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607354]
synonym: "scoliosis, isolated, susceptibility to, 2; IS2" RELATED [OMIM:607354]
xref: OMIM:607354 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846366
property_value: exactMatch http://identifiers.org/omim/607354

[Term]
id: MONDO:0011821
name: Meckel syndrome, type 3
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0008744"}
synonym: "Meckel syndrome 3" RELATED [DOID:0070117]
synonym: "Meckel syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type 3" RELATED [GARD:0008744]
synonym: "Meckel syndrome, type 3" EXACT [MONDO:Lexical, OMIM:607361]
synonym: "Meckel syndrome, type 3; MKS3" RELATED [OMIM:607361]
synonym: "Meckel-Gruber syndrome, type 3" EXACT [DOID:0070117, OMIM:607361]
synonym: "MKS3" EXACT [DOID:0070117, MONDO:Lexical, OMIM:607361]
synonym: "TMEM67 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070117 {source="MONDO:equivalentTo"}
xref: GARD:0008744 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070117"}
xref: MESH:C536132 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607361 {source="MONDO:equivalentTo", source="DOID:0070117"}
xref: UMLS:C1846357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607361"}
is_a: MONDO:0018921 {source="DC-OMIM:607361", source="DOID:0070117", source="MONDO:Redundant", source="OMIM:607361"} ! Meckel syndrome
property_value: exactMatch DOID:0070117
property_value: exactMatch http://identifiers.org/mesh/C536132
property_value: exactMatch http://identifiers.org/omim/607361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846357
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 xsd:anyURI {source="GARD:0008744"}

[Term]
id: MONDO:0011822
name: Bartter disease type 3
def: "Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:93605]
subset: ordo_clinical_subtype {source="Orphanet:93605"}
synonym: "adult Bartter syndrome" EXACT [Orphanet:93605]
synonym: "BARTS3" EXACT [DOID:0110144]
synonym: "Bartter syndrome classic" RELATED [GARD:0009659]
synonym: "Bartter syndrome type 3" EXACT [DOID:0110144, Orphanet:93605]
synonym: "Bartter syndrome type III" EXACT [Orphanet:93605]
synonym: "Bartter syndrome, classic" RELATED [OMIM:607364]
synonym: "Bartter syndrome, type 3" RELATED [OMIM:607364]
synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364]
synonym: "Bartter syndrome, type 3; BARTS3" RELATED [OMIM:607364]
synonym: "classic Bartter syndrome" EXACT [DOID:0110144]
xref: DOID:0110144 {source="MONDO:equivalentTo"}
xref: GARD:0009659 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E26.8 {source="ORDO:93605/attributed", source="ORDO:93605/ntbt", source="Orphanet:93605", source="DOID:0110144"}
xref: OMIM:607364 {source="MONDO:equivalentTo", source="ORDO:93605/e", source="Orphanet:93605", source="DOID:0110144"}
xref: Orphanet:93605 {source="MONDO:equivalentTo", source="OMIM:607364"}
xref: SCTID:700111000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1846343 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607364", source="Orphanet:93605"}
is_a: MONDO:0015231 {source="DC-OMIM:607364", source="DOID:0110144", source="MONDOLEX:0011822", source="OMIM:607364", source="Orphanet:93605", source="linkedlifedata"} ! Bartter syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846344
property_value: exactMatch DOID:0110144
property_value: exactMatch http://identifiers.org/omim/607364
property_value: exactMatch http://identifiers.org/snomedct/700111000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846343
property_value: exactMatch Orphanet:93605

[Term]
id: MONDO:0011823
name: developmental malformations-deafness-dystonia syndrome
def: "Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome." [Orphanet:79107]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:79107"}
synonym: "DJO" RELATED [MESH:C537704, MONDO:Lexical, OMIM:607371]
synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371]
synonym: "dystonia, juvenile-onset; DJO" RELATED [OMIM:607371]
synonym: "juvenile-onset dystonia" RELATED [GARD:0009818]
xref: GARD:0009818 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:79107", source="ORDO:79107/attributed", source="ORDO:79107/ntbt"}
xref: MESH:C537704 {source="MONDO:equivalentTo"}
xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="ORDO:79107/e"}
xref: Orphanet:79107 {source="MONDO:equivalentTo", source="OMIM:607371"}
xref: UMLS:C1846331 {source="NCBI:mim2gene_medline", source="GARD:0009818", source="MONDO:equivalentTo", source="OMIM:607371"}
is_a: MONDO:0018265 {source="Orphanet:79107"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0019589 {source="Orphanet:79107"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:79107"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537704
property_value: exactMatch http://identifiers.org/omim/607371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846331
property_value: exactMatch Orphanet:79107
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia xsd:anyURI {source="GARD:0009818"}

[Term]
id: MONDO:0011824
name: AUTS8
subset: predisposition
synonym: "autism, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:607373]
synonym: "autism, susceptibility to, 8; AUTS8" RELATED [OMIM:607373]
synonym: "AUTS2" RELATED [OMIM:607373]
synonym: "AUTS2, formerly" RELATED [OMIM:607373]
synonym: "AUTS8" EXACT [MONDO:Lexical, OMIM:607373]
xref: OMIM:607373 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:607373", source="MONDOLEX:0011824", source="OMIM:607373"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969710
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/607373

[Term]
id: MONDO:0011825
name: streptococcus, group A, severity of infection by
synonym: "streptococcus, group A, severity of infection by" EXACT [OMIM:607395]
xref: OMIM:607395 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846298
property_value: exactMatch http://identifiers.org/omim/607395

[Term]
id: MONDO:0011826
name: glucocorticoid deficiency 2
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial glucocorticoid deficiency 2" RELATED [OMIM:607398]
synonym: "familial glucocorticoid deficiency caused by mutation in MRAP" EXACT [MONDO:design_pattern]
synonym: "GCCD2" RELATED [MONDO:Lexical, OMIM:607398]
synonym: "glucocorticoid deficiency 2" EXACT [MONDO:Lexical, OMIM:607398]
synonym: "glucocorticoid deficiency 2; GCCD2" RELATED [OMIM:607398]
synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1, OMIM:607398]
synonym: "MRAP familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:607398 {source="MONDO:equivalentTo"}
xref: UMLS:C1846284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607398"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:607398", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency
property_value: exactMatch http://identifiers.org/omim/607398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846284

[Term]
id: MONDO:0011827
name: patent ductus arteriosus
def: "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." [NCIT:P378]
subset: gard_rare {source="GARD:0007342"}
subset: prototype_pattern
synonym: "ductus arteriosus, patent" RELATED [DOID:13832]
synonym: "patency of the ductus arteriosus" RELATED [GARD:0007342]
synonym: "patent ductus arteriosus familial (type)" RELATED [GARD:0007342]
synonym: "patent ductus botalli" EXACT [DOID:13832, MTHICD9_2006:747.0]
synonym: "PDA" EXACT [NCIT:C84492]
xref: COHD:315922 {source="MONDO:equivalentTo"}
xref: DOID:13832 {source="MONDO:equivalentTo"}
xref: GARD:0007342 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.0 {source="DOID:13832", source="MONDO:equivalentTo"}
xref: ICD9:747.0 {source="DOID:13832", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D004374 {source="DOID:13832", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84492 {source="DOID:13832", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:607411 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:83330001 {source="DOID:13832", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005453 {source="DOID:13832", source="MESH:D004374"} ! congenital heart disease
is_a: MONDO:0018758 {source="ORDO:466729/btnt"} ! familial patent arterial duct
property_value: closeMatch http://identifiers.org/snomedct/156928009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013274
property_value: closeMatch Orphanet:706
property_value: exactMatch DOID:13832
property_value: exactMatch http://identifiers.org/mesh/D004374
property_value: exactMatch http://identifiers.org/snomedct/83330001
property_value: exactMatch NCIT:C84492
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus xsd:anyURI {source="GARD:0007342"}

[Term]
id: MONDO:0011828
name: intellectual disability, autosomal recessive 2
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN" EXACT [MONDO:design_pattern]
synonym: "CRBN autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:607417]
synonym: "mental retardation, autosomal recessive 2; MRT2" RELATED [OMIM:607417]
synonym: "mental retardation, autosomal recessive 2A" RELATED [OMIM:607417]
synonym: "mental retardation, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:607417]
synonym: "MRT2" RELATED [MONDO:Lexical, OMIM:607417]
xref: MESH:C564404 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607417 {source="MONDO:equivalentTo"}
xref: UMLS:C1843942 {source="NCBI:mim2gene_medline", source="OMIM:607417", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:607417", source="MONDO:Redundant", source="OMIM:607417"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564404
property_value: exactMatch http://identifiers.org/omim/607417
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843942

[Term]
id: MONDO:0011829
name: coenzyme Q10 deficiency, primary, 1
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "coenzyme Q deficiency 1" RELATED [OMIM:607426]
synonym: "coenzyme Q10 deficiency caused by mutation in COQ2" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 1" EXACT [MONDO:Lexical, OMIM:607426]
synonym: "coenzyme Q10 deficiency, primary, 1; COQ10D1" RELATED [OMIM:607426]
synonym: "coenzyme Q10 deficiency, primary, type 1" EXACT [MONDORULE:1, OMIM:607426]
synonym: "CoQ deficiency 1" RELATED [OMIM:607426]
synonym: "Coq10 deficiency, primary, 1" RELATED [OMIM:607426]
synonym: "COQ10D1" RELATED [MONDO:Lexical, OMIM:607426]
synonym: "COQ2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ubiquinone deficiency 1" RELATED [OMIM:607426]
xref: DOID:0070238 {source="MONDO:equivalentTo"}
xref: OMIM:607426 {source="MONDO:equivalentTo"}
xref: UMLS:C3551954 {source="OMIM:607426", source="MONDO:equivalentTo"}
is_a: MONDO:0016816 {source="ORDO:255249/btnt"} ! Leigh syndrome with nephrotic syndrome
property_value: exactMatch DOID:0070238
property_value: exactMatch http://identifiers.org/omim/607426
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3551954

[Term]
id: MONDO:0011830
name: lissencephaly due to LIS1 mutation
def: "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." [Orphanet:95232]
subset: ordo_disease {source="Orphanet:95232"}
synonym: "LIS1" RELATED [MONDO:Lexical, OMIM:607432]
synonym: "lissencephaly 1" RELATED [MONDO:Lexical, OMIM:607432]
synonym: "lissencephaly 1; LIS1" RELATED [OMIM:607432]
synonym: "lissencephaly sequence, isolated" RELATED [OMIM:607432]
synonym: "lissencephaly type 1" EXACT [MONDORULE:1, OMIM:607432]
synonym: "lissencephaly, classic" RELATED [OMIM:607432]
synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232]
synonym: "subcortical band heterotopia" RELATED [OMIM:607432]
synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432]
xref: ICD10:Q04.3 {source="Orphanet:95232", source="ORDO:95232/attributed", source="ORDO:95232/ntbt"}
xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="ORDO:95232/e"}
xref: Orphanet:95232 {source="MONDO:equivalentTo", source="OMIM:607432"}
xref: UMLS:CN228917 {source="MONDO:equivalentTo"}
is_a: MONDO:0015146 {source="MONDOLEX:0011830", source="Orphanet:95232"} ! classic lissencephaly
property_value: exactMatch http://identifiers.org/omim/607432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228917
property_value: exactMatch Orphanet:95232

[Term]
id: MONDO:0011831
name: arrhythmogenic right ventricular dysplasia 8
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [DOID:0110076, OMIM:607450]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [DOID:0110076, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical, OMIM:607450]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 8; ARVD8" RELATED [OMIM:607450]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1, OMIM:607450]
synonym: "ARVC8" EXACT [DOID:0110076]
synonym: "ARVD8" EXACT [DOID:0110076, MONDO:Lexical, OMIM:607450]
synonym: "DSP arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [DOID:0110076]
xref: DOID:0110076 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110076"}
xref: MESH:C564400 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607450 {source="MONDO:equivalentTo", source="DOID:0110076"}
xref: UMLS:C1843896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607450"}
is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110076
property_value: exactMatch http://identifiers.org/mesh/C564400
property_value: exactMatch http://identifiers.org/omim/607450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843896

[Term]
id: MONDO:0011832
name: autosomal dominant nonsyndromic deafness 44
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 44" EXACT [DOID:0110569]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 44" EXACT [DOID:0110569, MONDORULE:2]
synonym: "CCDC50 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 44" RELATED [MONDO:Lexical, OMIM:607453]
synonym: "deafness, autosomal dominant 44; DFNA44" RELATED [OMIM:607453]
synonym: "deafness, autosomal dominant type 44" EXACT [MONDORULE:2, OMIM:607453]
synonym: "DFNA44" EXACT [DOID:0110569, MONDO:Lexical, OMIM:607453]
xref: DOID:0110569 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110569"}
xref: MESH:C564399 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607453 {source="DOID:0110569", source="MONDO:equivalentTo"}
xref: UMLS:C1843895 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607453"}
is_a: MONDO:0019587 {source="DC-OMIM:607453", source="DOID:0110569", source="MONDO:Redundant", source="OMIM:607453"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110569
property_value: exactMatch http://identifiers.org/mesh/C564399
property_value: exactMatch http://identifiers.org/omim/607453
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843895

[Term]
id: MONDO:0011833
name: spinocerebellar ataxia type 21
def: "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." [Orphanet:98773]
subset: ordo_disease {source="Orphanet:98773"}
synonym: "SCA21" EXACT [MONDO:Lexical, OMIM:607454, Orphanet:98773]
synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454]
synonym: "spinocerebellar ataxia 21; SCA21" RELATED [OMIM:607454]
synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454]
xref: DOID:0050972 {source="MONDO:equivalentTo"}
xref: GARD:0009999 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="Orphanet:98773", source="ORDO:98773/attributed", source="ORDO:98773/ntbt"}
xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="ORDO:98773/e"}
xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="ORDO:98773/e"}
xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"}
xref: SCTID:718774001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1843891 {source="Orphanet:98773", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607454", source="ORDO:98773/e"}
xref: UMLS:C4305144 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98773"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050972
property_value: exactMatch http://identifiers.org/mesh/C537200
property_value: exactMatch http://identifiers.org/omim/607454
property_value: exactMatch http://identifiers.org/snomedct/718774001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305144
property_value: exactMatch Orphanet:98773

[Term]
id: MONDO:0011834
name: spinocerebellar ataxia type 18
def: "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." [Orphanet:98771]
subset: ordo_disease {source="Orphanet:98771"}
synonym: "SCA18" EXACT [MONDO:Lexical, OMIM:607458, Orphanet:98771]
synonym: "sensorimotor neuropathy with ataxia autosomal dominant" RELATED [GARD:0009976]
synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [OMIM:607458]
synonym: "SMNA" RELATED [GARD:0009976]
synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458]
synonym: "spinocerebellar ataxia 18; SCA18" RELATED [OMIM:607458]
xref: DOID:0050969 {source="MONDO:equivalentTo"}
xref: GARD:0009976 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:98771/attributed", source="ORDO:98771/ntbt", source="Orphanet:98771"}
xref: MESH:C537197 {source="MONDO:equivalentTo", source="ORDO:98771/e", source="MONDO:ontobio", source="Orphanet:98771"}
xref: OMIM:607458 {source="MONDO:equivalentTo", source="ORDO:98771/e", source="DOID:0050969", source="Orphanet:98771"}
xref: Orphanet:98771 {source="OMIM:607458", source="MONDO:equivalentTo"}
xref: SCTID:719250005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1843884 {source="OMIM:607458", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98771/e", source="Orphanet:98771"}
xref: UMLS:C4304848 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98771"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050969
property_value: exactMatch http://identifiers.org/mesh/C537197
property_value: exactMatch http://identifiers.org/omim/607458
property_value: exactMatch http://identifiers.org/snomedct/719250005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843884
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304848
property_value: exactMatch Orphanet:98771

[Term]
id: MONDO:0011835
name: sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
def: "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." [Orphanet:70595]
subset: ordo_disease {source="Orphanet:70595"}
synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [OMIM:607459]
synonym: "epilepsy, progressive myoclonic, with sensory ataxic neuropathy" RELATED [OMIM:607459]
synonym: "SANDO" EXACT [MONDO:Lexical, OMIM:607459, Orphanet:70595]
synonym: "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive" RELATED [OMIM:607459]
synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" RELATED [MONDO:Lexical, OMIM:607459]
synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SANDO" RELATED [OMIM:607459]
synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459]
xref: GARD:0009998 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.3 {source="Orphanet:70595", source="ORDO:70595/attributed", source="ORDO:70595/ntbt"}
xref: OMIM:607459 {source="ORDO:70595/e", source="Orphanet:70595", source="MONDO:equivalentTo"}
xref: Orphanet:70595 {source="OMIM:607459", source="MONDO:equivalentTo"}
xref: UMLS:C1843851 {source="ORDO:70595/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:607459", source="NCBI:mim2gene_medline", source="Orphanet:70595", source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="Orphanet:70595"} ! inborn mitochondrial myopathy
is_a: MONDO:0016402 {source="Orphanet:70595"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:70595"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016798 {source="Orphanet:70595"} ! ataxia neuropathy spectrum
property_value: exactMatch http://identifiers.org/mesh/C537583
property_value: exactMatch http://identifiers.org/omim/607459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843851
property_value: exactMatch Orphanet:70595

[Term]
id: MONDO:0011836
name: thyroid Hurthle cell carcinoma
synonym: "follicular thyroid cancer, Hurthle cell type" RELATED [GARD:0009428]
synonym: "Hurthle cell thyroid cancer" RELATED [GARD:0009428]
synonym: "Hurthle cell thyroid neoplasia" RELATED [OMIM:607464]
synonym: "oncocytic carcinoma of the thyroid" EXACT [DOID:8161, NCIT:C4946]
synonym: "thyroid cancer, follicular, Hurthle cell type" RELATED [GARD:0009428]
synonym: "thyroid cancer, Hurthle cell" RELATED [GARD:0009428]
synonym: "thyroid carcinoma, Hurthle cell" RELATED [OMIM:607464]
xref: DOID:8161 {source="MONDO:equivalentTo"}
xref: GARD:0009428 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536913 {source="DOID:8161", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607464 {source="DOID:8161", source="MONDO:equivalentTo"}
xref: ONCOTREE:THHC {source="MONDO:equivalentTo"}
xref: SCTID:423158009 {source="DOID:8161", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0005034 {source="MONDOLEX:0011836", source="linkedlifedata"} ! thyroid gland follicular carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0749424
property_value: exactMatch DOID:8161
property_value: exactMatch http://identifiers.org/mesh/C536913
property_value: exactMatch http://identifiers.org/omim/607464
property_value: exactMatch http://identifiers.org/snomedct/423158009

[Term]
id: MONDO:0011837
name: vitamin K-dependent clotting factors, combined deficiency of, type 2
def: "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDORULE:1, OMIM:607473]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:607473]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2" RELATED [OMIM:607473]
synonym: "VKCFD2" RELATED [MONDO:Lexical, OMIM:607473]
synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564393 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607473 {source="MONDO:equivalentTo"}
xref: UMLS:C1843832 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607473"}
is_a: MONDO:0015722 {source="MONDO:Redundant", source="OMIM:607473"} ! congenital vitamin K-dependent coagulation factors deficiency
property_value: exactMatch http://identifiers.org/mesh/C564393
property_value: exactMatch http://identifiers.org/omim/607473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843832

[Term]
id: MONDO:0011838
name: Bothnia retinal dystrophy
def: "Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted." [Orphanet:85128]
subset: ordo_disease {source="Orphanet:85128"}
synonym: "Bothnia retinal dystrophy" EXACT [OMIM:607475]
synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475]
synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128]
synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128]
xref: DOID:0050683 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:85128", source="ORDO:85128/attributed", source="ORDO:85128/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C564392 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607475 {source="DOID:0050683", source="ORDO:85128/e", source="MONDO:equivalentTo", source="Orphanet:85128"}
xref: Orphanet:85128 {source="MONDO:equivalentTo", source="OMIM:607475"}
xref: SCTID:715647007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1843816 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85128", source="OMIM:607475"}
is_a: MONDO:0019118 {source="DOID:0050683", source="Orphanet:85128", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch DOID:0050683
property_value: exactMatch http://identifiers.org/mesh/C564392
property_value: exactMatch http://identifiers.org/omim/607475
property_value: exactMatch http://identifiers.org/snomedct/715647007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843816
property_value: exactMatch Orphanet:85128

[Term]
id: MONDO:0011839
name: Newfoundland cone-rod dystrophy
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy caused by mutation in RLBP1" EXACT [MONDO:design_pattern]
synonym: "Newfoundland ROD-cone dystrophy" RELATED [MONDO:Lexical, OMIM:607476]
synonym: "Newfoundland ROD-cone dystrophy; NFRCD" RELATED [OMIM:607476]
synonym: "NFRCD" EXACT [DOID:0111015, MONDO:Lexical, OMIM:607476]
synonym: "RLBP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111015 {source="MONDO:equivalentTo"}
xref: MESH:C564391 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607476 {source="MONDO:equivalentTo", source="DOID:0111015"}
xref: UMLS:C1843815 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607476"}
is_a: MONDO:0015993 {source="DC-OMIM:607476", source="DOID:0111015", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111015
property_value: exactMatch http://identifiers.org/mesh/C564391
property_value: exactMatch http://identifiers.org/omim/607476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843815

[Term]
id: MONDO:0011840
name: dilated cardiomyopathy 1M
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical, OMIM:607482]
synonym: "cardiomyopathy, dilated, 1M; CMD1M" RELATED [OMIM:607482]
synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4, OMIM:607482]
synonym: "CMD1M" EXACT [DOID:0110449, MONDO:Lexical, OMIM:607482]
synonym: "CSRP3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1M" EXACT [DOID:0110449, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern]
xref: DOID:0110449 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110449"}
xref: MESH:C564390 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607482 {source="DOID:0110449", source="MONDO:equivalentTo"}
xref: UMLS:C1843808 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607482"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110449
property_value: exactMatch http://identifiers.org/mesh/C564390
property_value: exactMatch http://identifiers.org/omim/607482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843808

[Term]
id: MONDO:0011841
name: biotin-responsive basal ganglia disease
subset: ordo_disease {source="Orphanet:65284"}
synonym: "basal ganglia disease, biotin-responsive" RELATED [OMIM:607483]
synonym: "BBGD" EXACT [Orphanet:65284]
synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [Orphanet:65284]
synonym: "BTBGD" EXACT [Orphanet:65284]
synonym: "encephalopathy, thiamine-responsive" RELATED [OMIM:607483]
synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" RELATED [MONDO:Lexical, OMIM:607483]
synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); THMD2" RELATED [OMIM:607483]
synonym: "THMD2" RELATED [MONDO:Lexical, OMIM:607483]
xref: DOID:0050659 {source="MONDO:equivalentTo"}
xref: GARD:0010237 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G25.8 {source="ORDO:65284/attributed", source="ORDO:65284/ntbt", source="Orphanet:65284"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537658 {source="MONDO:equivalentTo", source="ORDO:65284/e", source="Orphanet:65284", source="MONDO:ontobio"}
xref: OMIM:607483 {source="ORDO:65284/ntbt", source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659"}
xref: Orphanet:65284 {source="MONDO:equivalentTo", source="OMIM:607483"}
xref: SCTID:703522009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.87"}
xref: UMLS:C1843807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607483", source="ORDO:65284/e", source="Orphanet:65284"}
is_a: MONDO:0000152 {source="DC-OMIM:607483", source="OMIM:607483"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0003996 {source="DOID:0050659", source="MESH:C537658", source="MONDO:Redundant", source="linkedlifedata"} ! basal ganglia disease
is_a: MONDO:0019058 {source="Orphanet:65284"} ! neurometabolic disease
property_value: exactMatch DOID:0050659
property_value: exactMatch http://identifiers.org/mesh/C537658
property_value: exactMatch http://identifiers.org/omim/607483
property_value: exactMatch http://identifiers.org/snomedct/703522009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843807
property_value: exactMatch Orphanet:65284

[Term]
id: MONDO:0011842
name: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31." [DOID:0060672, PMID:16862116, PMID:16983677]
synonym: "aphasia, primary progressive" RELATED [OMIM:607485]
synonym: "dementia, hereditary dysphasic disinhibition" RELATED [OMIM:607485]
synonym: "frontotemporal dementia with Tdp43 inclusions, Grn-related" RELATED [OMIM:607485]
synonym: "frontotemporal dementia, ubiquitin-positive" RELATED [OMIM:607485]
synonym: "frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related" RELATED [OMIM:607485]
synonym: "frontotemporal lobar Degeneration with ubiquitin-positive inclusions" RELATED [OMIM:607485]
synonym: "Ftld-TDP, Grn-related" RELATED [OMIM:607485]
xref: DOID:0060672 {source="MONDO:equivalentTo"}
xref: ICD10:G31.0 {source="DOID:0060672"}
xref: OMIM:607485 {source="DOID:0060672", source="MONDO:equivalentTo"}
is_a: MONDO:0017276 {source="DOID:0060672"} ! frontotemporal dementia
is_a: MONDO:0019806 ! primary progressive aphasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843792
property_value: exactMatch DOID:0060672
property_value: exactMatch http://identifiers.org/omim/607485

[Term]
id: MONDO:0011843
name: hypertrophic cardiomyopathy 25
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 25" EXACT [DOID:0110328]
synonym: "cardiomyopathy, familial hypertrophic, 25" RELATED [MONDO:Lexical, OMIM:607487]
synonym: "cardiomyopathy, familial hypertrophic, 25; CMH25" RELATED [OMIM:607487]
synonym: "cardiomyopathy, familial hypertrophic, type 25" EXACT [MONDORULE:2, OMIM:607487]
synonym: "CMH25" EXACT [DOID:0110328, MONDO:Lexical, OMIM:607487]
synonym: "hypertrophic cardiomyopathy caused by mutation in TCAP" EXACT []
synonym: "hypertrophic cardiomyopathy caused by mutation in Tcap" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 25" EXACT [DOID:0110328, MONDORULE:2]
synonym: "TCAP hypertrophic cardiomyopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tcap hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern]
xref: DOID:0110328 {source="MONDO:equivalentTo"}
xref: MESH:C564388 {source="MONDO:equivalentTo"}
xref: OMIM:607487 {source="DOID:0110328", source="MONDO:equivalentTo"}
xref: UMLS:C1843791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607487"}
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0024573 {source="MONDOLEX:0011843", source="OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110328
property_value: exactMatch http://identifiers.org/mesh/C564388
property_value: exactMatch http://identifiers.org/omim/607487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843791

[Term]
id: MONDO:0011844
name: myoclonic dystonia 15
def: "A myoclonic dystonia characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 18p11." [DOID:0090035]
synonym: "dystonia 15, myoclonic" RELATED [MONDO:Lexical, OMIM:607488]
synonym: "dystonia 15, myoclonic; DYT15" RELATED [OMIM:607488]
synonym: "DYT15" RELATED [MONDO:Lexical, OMIM:607488]
synonym: "myoclonic dystonia type 15" EXACT [DOID:0090035, MONDORULE:2]
xref: DOID:0090035 {source="MONDO:equivalentTo"}
xref: MESH:C538002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607488 {source="MONDO:equivalentTo", source="DOID:0090035"}
xref: Orphanet:210566 {source="MONDO:obsoleteEquivalent", source="DOID:0090035", source="OMIM:607488"}
xref: UMLS:C1843786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607488"}
is_a: MONDO:0000903 {source="DOID:0090035"} ! myoclonus-dystonia syndrome
property_value: exactMatch DOID:0090035
property_value: exactMatch http://identifiers.org/mesh/C538002
property_value: exactMatch http://identifiers.org/omim/607488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843786
property_value: exactMatch Orphanet:210566

[Term]
id: MONDO:0011845
name: migraine with or without aura, susceptibility to, 3
subset: predisposition
synonym: "MGR3" RELATED [OMIM:607498]
synonym: "migraine with or without aura, susceptibility to, 3" EXACT [OMIM:607498]
synonym: "migraine with or without aura, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607498]
xref: OMIM:607498 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:607498", source="OMIM:607498/inferred"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843782
property_value: exactMatch http://identifiers.org/omim/607498

[Term]
id: MONDO:0011846
name: bulimia nervosa, susceptibility to, 1
subset: predisposition
synonym: "BN" RELATED [OMIM:607499]
synonym: "bulimia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607499]
synonym: "bulimia nervosa, susceptibility to, 1; BULN1" RELATED [OMIM:607499]
synonym: "bulimia nervosa, susceptibility to; BULN" RELATED [OMIM:607499]
synonym: "BULN" RELATED [OMIM:607499]
synonym: "BULN1" RELATED [MONDO:Lexical, OMIM:607499]
xref: OMIM:607499 {source="MONDO:equivalentTo"}
xref: UMLS:CN244558 {source="MONDO:equivalentTo"}
is_a: MONDO:0005452 {source="DC-OMIM:607499"} ! bulimia nervosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843776
property_value: exactMatch http://identifiers.org/omim/607499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244558

[Term]
id: MONDO:0011847
name: migraine without aura
def: "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." [NCIT:P378]
subset: predisposition
synonym: "common migraine" EXACT [DOID:12783]
synonym: "MGOA" RELATED [OMIM:607501]
synonym: "MGR4" EXACT [OMIM:607501]
synonym: "migraine without aura, susceptibility to, 4" EXACT [OMIM:607501]
synonym: "migraine without aura, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:607501]
xref: COHD:378735 {source="MONDO:equivalentTo"}
xref: DOID:12783 {source="MONDO:equivalentTo", source="EFO:0005296"}
xref: EFO:0005296 {source="MONDO:equivalentTo"}
xref: HP:0002083 {source="MONDO:otherHierarchy", source="EFO:0005296"}
xref: ICD10:G43.0 {source="DOID:12783"}
xref: ICD10:G43.009 {source="DOID:12783"}
xref: ICD9:346.1 {source="EFO:0005296", source="DOID:12783"}
xref: MESH:D020326 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0005296", source="DOID:12783"}
xref: NCIT:C117004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0005296", source="DOID:12783"}
xref: OMIM:607501 {source="MONDO:equivalentTo", source="DOID:12783"}
xref: SCTID:56097005 {source="MONDO:equivalentTo", source="EFO:0005296", source="DOID:12783", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338480 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C117004", source="MONDO:equivalentTo", source="DOID:12783"}
is_a: MONDO:0005277 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004"} ! migraine disorder
property_value: closeMatch http://identifiers.org/snomedct/193027003
property_value: closeMatch http://identifiers.org/snomedct/193029000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843773
property_value: exactMatch DOID:12783
property_value: exactMatch http://identifiers.org/mesh/D020326
property_value: exactMatch http://identifiers.org/omim/607501
property_value: exactMatch http://identifiers.org/snomedct/56097005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338480
property_value: exactMatch NCIT:C117004

[Term]
id: MONDO:0011848
name: headache associated with sexual activity
synonym: "benign sexual headache" RELATED [OMIM:607504]
synonym: "headache associated with sexual activity" EXACT [MONDO:Lexical, OMIM:607504]
synonym: "headache associated with sexual activity; HSA" RELATED [OMIM:607504]
synonym: "HSA" RELATED [MONDO:Lexical, OMIM:607504]
xref: COHD:374342 {source="MONDO:equivalentTo"}
xref: ICD10:G44.82 {source="MONDO:equivalentTo"}
xref: OMIM:607504 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393754
property_value: exactMatch http://identifiers.org/omim/607504

[Term]
id: MONDO:0011849
name: psoriatic arthritis
def: "Joint inflammation associated with psoriasis." [NCIT:P378]
subset: predisposition
synonym: "arthritis psoriatica" EXACT [DOID:9008]
synonym: "arthropathic psoriasis" EXACT [DOID:9008]
synonym: "psoriatic arthritis, susceptibility to" RELATED [OMIM:607507]
synonym: "psoriatic arthritis, susceptibility to, 1" RELATED [OMIM:607507]
synonym: "psoriatic arthropathy" RELATED [DOID:9008]
synonym: "susceptibility to psoriatic arthritis" RELATED [OMIM:607507]
xref: DOID:9008 {source="MONDO:equivalentTo", source="EFO:0003778"}
xref: EFO:0003778 {source="DOID:9008", source="MONDO:equivalentTo"}
xref: ICD10:L40.5 {source="DOID:9008"}
xref: ICD10:L40.50 {source="DOID:9008"}
xref: ICD9:696.0 {source="DOID:9008"}
xref: MESH:D015535 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778", source="MONDO:ontobio"}
xref: NCIT:C61277 {source="DOID:9008", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:0003778"}
xref: OMIM:607507 {source="MONDO:equivalentTo", source="EFO:0003778"}
xref: SCTID:156370009 {source="DOID:9008", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.62"}
xref: UMLS:C0003872 {source="DOID:9008", source="MONDO:equivalentTo", source="NCIT:C61277"}
is_a: MONDO:0002254 {source="DOID:9008"} ! syndromic disease
is_a: MONDO:0008383 ! rheumatoid arthritis
is_a: MONDO:0020573 {source="OMIM:607507"} ! inherited disease susceptibility
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: disease_has_major_feature MONDO:0005083 ! psoriasis
property_value: closeMatch http://identifiers.org/snomedct/200959009
property_value: closeMatch http://identifiers.org/snomedct/33339001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835223
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843772
property_value: closeMatch Orphanet:40050
property_value: exactMatch DOID:9008
property_value: exactMatch http://identifiers.org/mesh/D015535
property_value: exactMatch http://identifiers.org/omim/607507
property_value: exactMatch http://identifiers.org/snomedct/156370009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003872
property_value: exactMatch NCIT:C61277

[Term]
id: MONDO:0011850
name: migraine with or without aura, susceptibility to, 5
subset: predisposition
synonym: "Mgr5" RELATED [OMIM:607508]
synonym: "migraine with or without aura, susceptibility to, 5" EXACT [OMIM:607508]
synonym: "migraine with or without aura, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:607508]
xref: OMIM:607508 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:607508", source="OMIM:607508/inferred"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843771
property_value: exactMatch http://identifiers.org/omim/607508

[Term]
id: MONDO:0011851
name: migraine with or without aura, susceptibility to, 6
subset: predisposition
synonym: "MGR6" RELATED [OMIM:607516]
synonym: "migraine with or without aura, susceptibility to, 6" EXACT [OMIM:607516]
synonym: "migraine with or without aura, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:607516]
synonym: "migraine, familial hemiplegic, 4" RELATED [OMIM:607516]
xref: MESH:C564385 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607516 {source="MONDO:equivalentTo"}
is_a: MONDO:0000700 ! familial hemiplegic migraine
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843765
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843766
property_value: exactMatch http://identifiers.org/mesh/C564385
property_value: exactMatch http://identifiers.org/omim/607516

[Term]
id: MONDO:0011852
name: nonsyndromic congenital nail disorder 8
def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL7A1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited isolated nail anomaly caused by mutation in COL7A1" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital, 8" RELATED [MONDO:Lexical, OMIM:607523]
synonym: "nail disorder, nonsyndromic congenital, 8; NDNC8" RELATED [OMIM:607523]
synonym: "nail disorder, nonsyndromic congenital, type 8" EXACT [MONDORULE:1, OMIM:607523]
synonym: "NDNC8" RELATED [MONDO:Lexical, OMIM:607523]
synonym: "nonsyndromic congenital nail disorder type 8" EXACT [DOID:0080086, MONDORULE:1]
synonym: "toenail dystrophy, isolated" RELATED [OMIM:607523]
xref: DOID:0080086 {source="MONDO:equivalentTo"}
xref: MESH:C564384 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607523 {source="DOID:0080086", source="MONDO:equivalentTo"}
xref: UMLS:C1843761 {source="OMIM:607523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019284 {source="DC-OMIM:607523", source="MONDO:Redundant", source="OMIM:607523"} ! inherited isolated nail anomaly
property_value: exactMatch DOID:0080086
property_value: exactMatch http://identifiers.org/mesh/C564384
property_value: exactMatch http://identifiers.org/omim/607523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843761

[Term]
id: MONDO:0011853
name: Camptosynpolydactyly, complex
synonym: "camptopolydactyly, disorganization type" RELATED [OMIM:607539]
synonym: "camptosynpolydactyly, complex" EXACT [OMIM:607539]
synonym: "camptosynpolydactyly, complex; CCSPD" RELATED [OMIM:607539]
synonym: "CCSPD" RELATED [OMIM:607539]
xref: MESH:C564383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607539 {source="MONDO:equivalentTo"}
xref: UMLS:C1843758 {source="OMIM:607539", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564383
property_value: exactMatch http://identifiers.org/omim/607539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843758

[Term]
id: MONDO:0011854
name: secretory diarrhea, myopathy, and deafness
synonym: "secretory diarrhea, myopathy, and deafness" EXACT [OMIM:607540]
xref: MESH:C564382 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607540 {source="MONDO:equivalentTo"}
xref: UMLS:C1843757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607540"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564382
property_value: exactMatch http://identifiers.org/omim/607540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843757

[Term]
id: MONDO:0011855
name: granular corneal dystrophy type II
def: "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." [Orphanet:98963]
subset: ordo_disease {source="Orphanet:98963"}
synonym: "ACD" RELATED [OMIM:607541]
synonym: "Avellino corneal dystrophy" EXACT [OMIM:607541, Orphanet:98963]
synonym: "avellino corneal dystrophy" EXACT [DOID:0060444]
synonym: "CDA" RELATED [MONDO:Lexical, OMIM:607541]
synonym: "CGD2" EXACT [DOID:0060444]
synonym: "combined granular-lattice corneal dystrophies" RELATED [GARD:0009278]
synonym: "combined granular-lattice corneal dystrophy" EXACT [DOID:0060444, OMIM:607541]
synonym: "corneal dystrophy Avellino type" RELATED [GARD:0009278]
synonym: "corneal dystrophy, AVELLINO type" RELATED [MONDO:Lexical, OMIM:607541]
synonym: "corneal dystrophy, AVELLINO type; CDA" RELATED [OMIM:607541]
synonym: "GCD2" EXACT [Orphanet:98963]
synonym: "GCDII" EXACT [Orphanet:98963]
synonym: "granular and lattice corneal dystrophies" RELATED [GARD:0009278]
synonym: "granular corneal dystrophy type 2" EXACT [DOID:0060444, Orphanet:98963]
synonym: "granular corneal dystrophy, type 2" RELATED [OMIM:607541]
synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278]
synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963]
xref: DOID:0060444 {source="MONDO:equivalentTo"}
xref: GARD:0009278 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H18.5 {source="Orphanet:98963", source="ORDO:98963/attributed", source="ORDO:98963/ntbt"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535474 {source="ORDO:98963/e", source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607541 {source="ORDO:98963/e", source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo"}
xref: Orphanet:98963 {source="DOID:0060444", source="MONDO:equivalentTo", source="OMIM:607541"}
xref: SCTID:397568004 {source="MONDO:kboom-pr-0.80/0.42/0.91", source="DOID:0060444", source="MONDO:equivalentTo"}
xref: UMLS:C1275685 {source="ORDO:98963/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:98963", source="DOID:0060444", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607541"}
is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020213 {source="Orphanet:98963", source="linkedlifedata"} ! stromal corneal dystrophy
property_value: exactMatch DOID:0060444
property_value: exactMatch http://identifiers.org/mesh/C535474
property_value: exactMatch http://identifiers.org/omim/607541
property_value: exactMatch http://identifiers.org/snomedct/397568004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275685
property_value: exactMatch Orphanet:98963

[Term]
id: MONDO:0011856
name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
subset: ordo_disease {source="Orphanet:168552"}
synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543]
synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719]
synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543]
xref: GARD:0008719 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:168552", source="ORDO:168552/attributed", source="ORDO:168552/ntbt"}
xref: MESH:C535791 {source="Orphanet:168552", source="ORDO:168552/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607543 {source="Orphanet:168552", source="ORDO:168552/e", source="MONDO:equivalentTo"}
xref: Orphanet:168552 {source="MONDO:equivalentTo", source="OMIM:607543"}
xref: UMLS:C1843706 {source="Orphanet:168552", source="ORDO:168552/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607543"}
is_a: MONDO:0016763 {source="MONDOLEX:0011856", source="Orphanet:168552"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535791
property_value: exactMatch http://identifiers.org/omim/607543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843706
property_value: exactMatch Orphanet:168552

[Term]
id: MONDO:0011857
name: atrial fibrillation, familial, 3
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB3" RELATED [MONDO:Lexical, OMIM:607554]
synonym: "atrial fibrillation, familial, 3" EXACT [MONDO:Lexical, OMIM:607554]
synonym: "atrial fibrillation, familial, 3; ATFB3" RELATED [OMIM:607554]
synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1, OMIM:607554]
synonym: "familial atrial fibrillation caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "KCNQ1 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563817 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607554 {source="MONDO:equivalentTo"}
xref: UMLS:C1837014 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607554"}
is_a: MONDO:0018054 {source="DC-OMIM:607554", source="MONDO:Redundant", source="MONDOLEX:0011857", source="OMIM:607554"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C563817
property_value: exactMatch http://identifiers.org/omim/607554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837014

[Term]
id: MONDO:0011858
name: spastic paraplegia, ataxia, and mental retardation
synonym: "Spar" RELATED [OMIM:607565]
synonym: "spastic paraplegia, ataxia, and mental retardation" EXACT [OMIM:607565]
xref: MESH:C564378 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607565 {source="MONDO:equivalentTo"}
xref: UMLS:C1843661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607565"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564378
property_value: exactMatch http://identifiers.org/omim/607565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843661

[Term]
id: MONDO:0011859
name: distal myopathy with early respiratory muscle involvement
def: "Distal myopathy with early respiratory muscle involvement is a mid-life onset distal myopathy characterised by tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified." [Orphanet:34521]
subset: ordo_disease {source="Orphanet:34521"}
synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" RELATED [OMIM:607569]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:34521/attributed", source="ORDO:34521/ntbt", source="Orphanet:34521"}
xref: MESH:C564377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607569 {source="MONDO:equivalentTo", source="ORDO:34521/e", source="Orphanet:34521"}
xref: Orphanet:34521 {source="OMIM:607569", source="MONDO:equivalentTo"}
xref: SCTID:733490006 {source="MONDO:equivalentTo"}
xref: UMLS:C1843633 {source="OMIM:607569", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34521"}
xref: UMLS:C4518808 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:34521"} ! autosomal dominant distal myopathy
property_value: exactMatch http://identifiers.org/mesh/C564377
property_value: exactMatch http://identifiers.org/omim/607569
property_value: exactMatch http://identifiers.org/snomedct/733490006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518808
property_value: exactMatch Orphanet:34521

[Term]
id: MONDO:0011860
name: LPRS2
subset: predisposition
synonym: "leprosy, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:607572]
synonym: "leprosy, susceptibility to, 2; LPRS2" RELATED [OMIM:607572]
synonym: "LPRS2" EXACT [MONDO:Lexical, OMIM:607572]
xref: OMIM:607572 {source="MONDO:equivalentTo"}
xref: UMLS:C1843632 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607572"}
is_a: MONDO:0005124 {source="DC-OMIM:607572"} ! leprosy
property_value: exactMatch http://identifiers.org/omim/607572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843632

[Term]
id: MONDO:0011861
name: breath-holding Spells
synonym: "Bhs" RELATED [OMIM:607578]
synonym: "breath-holding Spells" EXACT [OMIM:607578]
xref: OMIM:607578 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0476287
property_value: exactMatch http://identifiers.org/omim/607578

[Term]
id: MONDO:0011862
name: hereditary spastic paraplegia 24
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14." [DOID:0110775, PMID:12499481]
subset: ordo_disease {source="Orphanet:101004"}
synonym: "autosomal recessive spastic paraplegia 24" EXACT [DOID:0110775]
synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775]
synonym: "hereditary spastic paraplegia type 24" EXACT [DOID:0110775, MONDORULE:2]
synonym: "spastic paraplegia 24" RELATED [GARD:0009296]
synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607584]
synonym: "spastic paraplegia 24, autosomal recessive; SPG24" RELATED [OMIM:607584]
synonym: "SPG24" EXACT [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004]
xref: DOID:0110775 {source="MONDO:equivalentTo"}
xref: GARD:0009296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110775", source="Orphanet:101004", source="ORDO:101004/attributed", source="ORDO:101004/ntbt"}
xref: MESH:C564375 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607584 {source="DOID:0110775", source="ORDO:101004/e", source="Orphanet:101004", source="MONDO:equivalentTo"}
xref: Orphanet:101004 {source="DOID:0110775", source="MONDO:equivalentTo", source="OMIM:607584"}
xref: UMLS:C1843569 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:101004", source="MONDO:equivalentTo", source="OMIM:607584"}
is_a: MONDO:0015089 {source="Orphanet:101004"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110775
property_value: exactMatch http://identifiers.org/mesh/C564375
property_value: exactMatch http://identifiers.org/omim/607584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843569
property_value: exactMatch Orphanet:101004

[Term]
id: MONDO:0011863
name: prostate cancer aggressiveness quantitative trait locus on chromosome 19
synonym: "HPCqtl19" RELATED [OMIM:607592]
synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome 19" EXACT [OMIM:607592]
synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" EXACT [MONDORULE:2, OMIM:607592]
xref: OMIM:607592 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843533
property_value: exactMatch http://identifiers.org/omim/607592

[Term]
id: MONDO:0011864
name: immunodeficiency, common variable, 1
synonym: "antibody deficiency due to Icos defect" RELATED [OMIM:607594]
synonym: "CVID1" RELATED [MONDO:Lexical, OMIM:607594]
synonym: "immunodeficiency, common variable" RELATED [OMIM:607594]
synonym: "immunodeficiency, common variable, 1" EXACT [MONDO:Lexical, OMIM:607594]
synonym: "immunodeficiency, common variable, 1; CVID1" RELATED [OMIM:607594]
synonym: "immunodeficiency, common variable, type 1" EXACT [MONDORULE:1, OMIM:607594]
xref: OMIM:607594 {source="MONDO:equivalentTo"}
xref: UMLS:C3149378 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607594"}
is_a: MONDO:0015517 {source="DC-OMIM:607594", source="MONDOLEX:0011864", source="OMIM:607594"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/607594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3149378

[Term]
id: MONDO:0011865
name: obsolete COL4A1-related familial vascular leukoencephalopathy
def: "A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34." [DOID:0090125]
is_obsolete: true
replaced_by: MONDO:0008289

[Term]
id: MONDO:0011866
name: pontocerebellar hypoplasia type 1A
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" EXACT [MONDO:design_pattern]
synonym: "Pch1" RELATED [OMIM:607596]
synonym: "PCH1A" RELATED [MONDO:Lexical, OMIM:607596]
synonym: "pontocerebellar hypoplasia with anterior horn cell disease" RELATED [OMIM:607596]
synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" RELATED [OMIM:607596]
synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical, OMIM:607596]
synonym: "pontocerebellar hypoplasia, type 1A; PCH1A" RELATED [OMIM:607596]
synonym: "VRK1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060265 {source="MONDO:equivalentTo"}
xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"}
is_a: MONDO:0016396 {source="MONDOLEX:0011866", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1
property_value: exactMatch DOID:0060265
property_value: exactMatch http://identifiers.org/omim/607596

[Term]
id: MONDO:0011867
name: microphthalmia with cyst, bilateral facial clefts, and limb anomalies
synonym: "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" EXACT [OMIM:607597]
xref: MESH:C564370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607597 {source="MONDO:equivalentTo"}
xref: UMLS:C1843492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607597"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564370
property_value: exactMatch http://identifiers.org/omim/607597
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843492

[Term]
id: MONDO:0011868
name: lethal congenital contracture syndrome 2
def: "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." [Orphanet:137776]
subset: gard_rare {source="GARD:0009177"}
subset: ordo_malformation_syndrome {source="Orphanet:137776"}
synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS2" EXACT [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776]
synonym: "lethal congenital contracture syndrome 2" EXACT [MONDO:Lexical, OMIM:607598]
synonym: "lethal congenital contracture syndrome 2; LCCS2" RELATED [OMIM:607598]
synonym: "lethal congenital contracture syndrome caused by mutation in ERBB3" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 2" EXACT [DOID:0060560, MONDORULE:1, OMIM:607598]
synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:0009177]
synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598]
synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776]
xref: DOID:0060560 {source="MONDO:equivalentTo"}
xref: GARD:0009177 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="DOID:0060560", source="Orphanet:137776", source="ORDO:137776/attributed", source="ORDO:137776/ntbt"}
xref: MESH:C564369 {source="DOID:0060560", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="ORDO:137776/e", source="MONDO:equivalentTo"}
xref: Orphanet:137776 {source="MONDO:equivalentTo", source="OMIM:607598"}
xref: SCTID:715419004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1843478 {source="Orphanet:137776", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:607598"}
xref: UMLS:C4275145 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0017436 {source="DC-OMIM:607598", source="DOID:0060560", source="MONDO:Redundant", source="OMIM:607598", source="Orphanet:137776"} ! lethal congenital contracture syndrome
is_a: MONDO:0043008 {source="Orphanet:137776"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060560
property_value: exactMatch http://identifiers.org/mesh/C564369
property_value: exactMatch http://identifiers.org/omim/607598
property_value: exactMatch http://identifiers.org/snomedct/715419004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275145
property_value: exactMatch Orphanet:137776
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 xsd:anyURI {source="GARD:0009177"}

[Term]
id: MONDO:0011869
name: epidermolysis bullosa simplex superficialis
def: "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." [Orphanet:89839]
subset: ordo_disease {source="Orphanet:89839"}
synonym: "EBSS" EXACT [MONDO:Lexical, OMIM:607600, Orphanet:89839]
synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600]
synonym: "epidermolysis bullosa simplex superficialis; EBSS" RELATED [OMIM:607600]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:89839/attributed", source="ORDO:89839/ntbt", source="Orphanet:89839"}
xref: MESH:C564368 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607600 {source="MONDO:equivalentTo", source="ORDO:89839/e", source="Orphanet:89839"}
xref: Orphanet:89839 {source="OMIM:607600", source="MONDO:equivalentTo"}
xref: UMLS:C1843477 {source="OMIM:607600", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:89839"}
is_a: MONDO:0015550 {source="Orphanet:89839"} ! suprabasal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C564368
property_value: exactMatch http://identifiers.org/omim/607600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843477
property_value: exactMatch Orphanet:89839

[Term]
id: MONDO:0011870
name: annular epidermolytic ichthyosis
def: "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." [Orphanet:281139]
subset: ordo_disease {source="Orphanet:281139"}
synonym: "AEI" EXACT [Orphanet:281139]
synonym: "Ciehk" RELATED [OMIM:607602]
synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602]
synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602]
xref: ICD10:Q80.3 {source="ORDO:281139/attributed", source="ORDO:281139/ntbt", source="Orphanet:281139"}
xref: MESH:C564367 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607602 {source="MONDO:equivalentTo", source="ORDO:281139/e", source="Orphanet:281139"}
xref: Orphanet:281139 {source="OMIM:607602", source="MONDO:equivalentTo"}
xref: SCTID:718631006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1843463 {source="OMIM:607602", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020702 ! autosomal dominant epidermolytic ichthyosis
property_value: exactMatch http://identifiers.org/mesh/C564367
property_value: exactMatch http://identifiers.org/omim/607602
property_value: exactMatch http://identifiers.org/snomedct/718631006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843463
property_value: exactMatch Orphanet:281139

[Term]
id: MONDO:0011871
name: Niemann-Pick disease type B
def: "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" [Orphanet:77293]
subset: gard_rare {source="GARD:0010729"}
subset: ordo_disease {source="Orphanet:77293"}
synonym: "Niemann Pick disease type B" RELATED [GARD:0010729]
synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [OMIM:607616]
synonym: "Niemann-PICK disease, type B" RELATED [OMIM:607616]
synonym: "Niemann-Pick disease, type E" RELATED [OMIM:607616]
synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616]
synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866]
xref: DOID:0070112 {source="MONDO:equivalentTo"}
xref: GARD:0010729 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="DOID:0070112", source="ORDO:77293/ntbt", source="Orphanet:77293", source="ORDO:77293/inclusion"}
xref: ICD10:E75.241 {source="MONDO:equivalentTo"}
xref: MESH:D052537 {source="ORDO:77293/e", source="MONDO:equivalentTo", source="Orphanet:77293"}
xref: NCIT:C126866 {source="MONDO:kboom-pr-1.00/0.78/7.33", source="MONDO:equivalentTo"}
xref: OMIM:607616 {source="ORDO:77293/e", source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293"}
xref: Orphanet:77293 {source="OMIM:607616", source="MONDO:equivalentTo"}
xref: SCTID:39390005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.42/0.22"}
xref: UMLS:C0268243 {source="OMIM:607616", source="ORDO:77293/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:77293", source="NCIT:C126866"}
is_a: MONDO:0001982 {source="DC-OMIM:607616", source="DOID:0070112", source="MESH:D052537", source="NCIT:C126866", source="Orphanet:77293", source="linkedlifedata"} ! Niemann-Pick disease
is_a: MONDO:0016133 {source="Orphanet:77293"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017024 {source="Orphanet:77293"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843418
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675644
property_value: exactMatch DOID:0070112
property_value: exactMatch http://identifiers.org/mesh/D052537
property_value: exactMatch http://identifiers.org/omim/607616
property_value: exactMatch http://identifiers.org/snomedct/39390005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268243
property_value: exactMatch NCIT:C126866
property_value: exactMatch Orphanet:77293
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b xsd:anyURI {source="GARD:0010729"}

[Term]
id: MONDO:0011872
name: Griscelli syndrome type 2
def: "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes ( mutations ) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." [https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2]
subset: gard_rare {source="GARD:0004483"}
subset: ordo_clinical_subtype {source="Orphanet:79477"}
synonym: "Griscelli disease type 2" RELATED [Orphanet:79477]
synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [DOID:0060833]
synonym: "Griscelli syndrome, type 2" RELATED [MONDO:Lexical, OMIM:607624]
synonym: "Griscelli syndrome, type 2; GS2" RELATED [OMIM:607624]
synonym: "Griscelli-PruniC)ras syndrome type 2" EXACT [Orphanet:79477]
synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [DOID:0060833]
synonym: "Griscelli-Pruni��ras syndrome type 2" EXACT [DOID:0060833]
synonym: "GS2" EXACT [DOID:0060833, MONDO:Lexical, OMIM:607624]
synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [DOID:0060833, Orphanet:79477]
synonym: "PAID syndrome" EXACT [DOID:0060833]
synonym: "Paid syndrome" RELATED [OMIM:607624]
synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624]
xref: DOID:0060833 {source="MONDO:equivalentTo"}
xref: GARD:0004483 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="ORDO:79477/attributed", source="ORDO:79477/ntbt", source="MONDO:relatedTo", source="DOID:0060833", source="Orphanet:79477"}
xref: MESH:C537302 {source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="MONDO:ontobio", source="Orphanet:79477"}
xref: NCIT:C111814 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:607624 {source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"}
xref: Orphanet:79477 {source="OMIM:607624", source="MONDO:equivalentTo", source="DOID:0060833"}
xref: UMLS:C1868679 {source="NCIT:C111814", source="OMIM:607624", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"}
is_a: MONDO:0018032 {source="Orphanet:79477"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0018042 {source="Orphanet:79477"} ! immunodeficiency syndrome with abnormal pigmentation
is_a: MONDO:0018306 {source="DC-OMIM:607624", source="DOID:0060833", source="MONDO:Redundant", source="OMIM:607624", source="Orphanet:79477"} ! Griscelli syndrome
is_a: MONDO:0019305 {source="Orphanet:79477"} ! immune deficiency with skin involvement
property_value: exactMatch DOID:0060833
property_value: exactMatch http://identifiers.org/mesh/C537302
property_value: exactMatch http://identifiers.org/omim/607624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868679
property_value: exactMatch NCIT:C111814
property_value: exactMatch Orphanet:79477
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 xsd:anyURI {source="GARD:0004483"}

[Term]
id: MONDO:0011873
name: Niemann-Pick disease, type C2
def: "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease , intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes ( mutations ) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2]
subset: gard_rare {source="GARD:0003992"}
synonym: "Niemann-Pick disease type C2" RELATED [GARD:0003992]
synonym: "Niemann-Pick disease, type C2" EXACT [MONDO:Lexical, OMIM:607625]
synonym: "Niemann-PICK disease, type C2; NPC2" RELATED [OMIM:607625]
synonym: "NPC2" EXACT [DOID:0070114, MONDO:Lexical, OMIM:607625]
synonym: "type C2 Niemann-Pick disease" EXACT [NCIT:C126865]
xref: DOID:0070114 {source="MONDO:equivalentTo"}
xref: GARD:0003992 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="DOID:0070114"}
xref: MESH:C536119 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126865 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:607625 {source="MONDO:equivalentTo", source="DOID:0070114"}
xref: UMLS:C1843366 {source="OMIM:607625", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126865"}
is_a: MONDO:0018982 {source="MESH:C536119", source="MONDOLEX:0011873", source="ORDO:646/btnt"} ! Niemann-Pick disease type C
property_value: exactMatch DOID:0070114
property_value: exactMatch http://identifiers.org/mesh/C536119
property_value: exactMatch http://identifiers.org/omim/607625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843366
property_value: exactMatch NCIT:C126865
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2 xsd:anyURI {source="GARD:0003992"}

[Term]
id: MONDO:0011874
name: neonatal ichthyosis-sclerosing cholangitis syndrome
def: "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." [Orphanet:59303]
subset: ordo_disease {source="Orphanet:59303"}
synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [OMIM:607626]
synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ILVASC" RELATED [OMIM:607626]
synonym: "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" EXACT [Orphanet:59303]
synonym: "ichthyosis-sclerosing cholangitis syndrome" RELATED [OMIM:607626]
synonym: "IHSC" EXACT [Orphanet:59303]
synonym: "Ilvasc" RELATED [OMIM:607626]
synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626]
synonym: "NISCH syndrome" EXACT [Orphanet:59303]
synonym: "Nisch syndrome" RELATED [OMIM:607626]
xref: GARD:0010583 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C564365 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607626 {source="MONDO:equivalentTo", source="ORDO:59303/e", source="Orphanet:59303"}
xref: Orphanet:59303 {source="OMIM:607626", source="MONDO:equivalentTo"}
xref: SCTID:724278007 {source="MONDO:equivalentTo"}
xref: UMLS:C1843355 {source="NCBI:mim2gene_medline", source="OMIM:607626", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:59303"}
is_a: MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:59303"} ! genetic biliary tract disease
is_a: MONDO:0017271 {source="Orphanet:59303"} ! autosomal ichthyosis syndrome with prominent hair abnormalities
is_a: MONDO:0018646 {source="MONDOLEX:0011874", source="Orphanet:59303"} ! sclerosing cholangitis (disease)
property_value: exactMatch http://identifiers.org/mesh/C564365
property_value: exactMatch http://identifiers.org/omim/607626
property_value: exactMatch http://identifiers.org/snomedct/724278007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843355
property_value: exactMatch Orphanet:59303

[Term]
id: MONDO:0011875
name: epilepsy, idiopathic generalized, susceptibility to, 11
def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CLCN2 generalised epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG11" RELATED [MONDO:Lexical, OMIM:607628]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:607628]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 11; EIG11" RELATED [OMIM:607628]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:607628]
synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [OMIM:607628]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [OMIM:607628]
synonym: "generalised epilepsy caused by mutation in CLCN2" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [OMIM:607628]
xref: OMIM:607628 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="OMIM:607628"} ! epilepsy, idiopathic generalized
is_a: MONDO:0009696 {source="OMIM:607628"} ! juvenile myoclonic epilepsy
is_a: MONDO:0011876 {source="OMIM:607628"} ! juvenile absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393697
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750893
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750894
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750895
property_value: exactMatch http://identifiers.org/omim/607628

[Term]
id: MONDO:0011876
name: juvenile absence epilepsy
def: "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." [Orphanet:1941]
subset: ordo_disease {source="Orphanet:1941"}
subset: predisposition
synonym: "epilepsy juvenile absence" RELATED [GARD:0002162]
synonym: "epilepsy, juvenile absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:607631]
synonym: "epilepsy, juvenile absence, susceptibility to, 1; EJA1" RELATED [OMIM:607631]
synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607631]
synonym: "JAE" EXACT [Orphanet:1941]
synonym: "susceptibility to juvenile absence epilepsy 1" RELATED [OMIM:607631]
xref: DOID:0060172 {source="MONDO:equivalentTo"}
xref: GARD:0002162 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.3 {source="ORDO:1941/attributed", source="ORDO:1941/ntbt", source="Orphanet:1941"}
xref: NCIT:C129868 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:607631 {source="MONDO:equivalentTo"}
xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"}
xref: SCTID:230413002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4317339 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 {source="OMIM:607631"} ! inherited disease susceptibility
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558", source="indirect"} ! adolescent/adult-onset epilepsy syndrome
relationship: predisposes_towards MONDO:0011876 ! juvenile absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014553
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750892
property_value: exactMatch DOID:0060172
property_value: exactMatch http://identifiers.org/mesh/C535495
property_value: exactMatch http://identifiers.org/snomedct/230413002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317339
property_value: exactMatch NCIT:C129868
property_value: exactMatch Orphanet:1941

[Term]
id: MONDO:0011877
name: autosomal dominant osteopetrosis 1
def: "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." [Orphanet:2783]
subset: ordo_malformation_syndrome {source="Orphanet:2783"}
synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1]
synonym: "LRP5 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "OPTA1" EXACT [DOID:0110937, MONDO:Lexical, OMIM:607634]
synonym: "osteopetrosis (disease) caused by mutation in LRP5" EXACT []
synonym: "osteopetrosis autosomal dominant type 1" RELATED [GARD:0004151]
synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:607634]
synonym: "osteopetrosis, autosomal dominant 1; OPTA1" RELATED [OMIM:607634]
synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607634]
synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634]
xref: DOID:0110937 {source="MONDO:equivalentTo"}
xref: GARD:0004151 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.2 {source="Orphanet:2783", source="DOID:0110937", source="ORDO:2783/inclusion", source="ORDO:2783/ntbt"}
xref: MESH:C536056 {source="ORDO:2783/e", source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="MONDO:ontobio"}
xref: OMIM:607634 {source="ORDO:2783/e", source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937"}
xref: Orphanet:2783 {source="OMIM:607634", source="MONDO:equivalentTo", source="DOID:0110937"}
xref: UMLS:C1843330 {source="OMIM:607634", source="MEDGEN:kboom-pr98-c99", source="Orphanet:2783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020645 ! autosomal dominant osteopetrosis
property_value: exactMatch DOID:0110937
property_value: exactMatch http://identifiers.org/mesh/C536056
property_value: exactMatch http://identifiers.org/omim/607634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931097
property_value: exactMatch Orphanet:2783

[Term]
id: MONDO:0011878
name: Worth syndrome
def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." [DOID:0080037, http://en.wikipedia.org/wiki/Worth_syndrome, http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx, http://www.ncbi.nlm.nih.gov/omim/144750]
synonym: "autosomal dominant endosteal hyperostosis" EXACT [DOID:0080037]
synonym: "autosomal dominant osteosclerosis" EXACT [DOID:0080037]
synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [DOID:0080037]
synonym: "osteosclerosis of the skull and enlarged mandible" RELATED [GARD:0009488]
synonym: "Van Buchem disease type 2" RELATED [GARD:0009488]
synonym: "Van Buchem disease, type 2" RELATED [OMIM:607636]
synonym: "VBCH2" RELATED [OMIM:607636]
synonym: "Worth syndrome" EXACT EXCLUDE [DOID:0080037]
synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:0080037 {source="MONDO:equivalentTo"}
xref: GARD:0009488 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:607636 {source="DOID:0080037", source="MONDO:equivalentTo"}
xref: SCTID:254131007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002185 ! hyperostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843323
property_value: exactMatch DOID:0080037
property_value: exactMatch http://identifiers.org/omim/607636
property_value: exactMatch http://identifiers.org/snomedct/254131007

[Term]
id: MONDO:0011879
name: neuronopathy, distal hereditary motor, type 7B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DCTN1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Dhmn7B" RELATED [OMIM:607641]
synonym: "HMN 7B" RELATED [OMIM:607641]
synonym: "HMN7B" RELATED [MONDO:Lexical, OMIM:607641]
synonym: "Lower motor neuron disease, dynactin type" RELATED [OMIM:607641]
synonym: "neuronopathy, distal hereditary motor caused by mutation in DCTN1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexical, OMIM:607641]
synonym: "neuronopathy, distal hereditary motor, type VIIB; HMN7B" RELATED [OMIM:607641]
synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [OMIM:607641]
synonym: "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B" RELATED [OMIM:607641]
xref: MESH:C564362 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607641 {source="MONDO:equivalentTo"}
xref: UMLS:C1843315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607641"}
is_a: MONDO:0000075 {source="DC-OMIM:607641", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015355 {source="ORDO:139589/btnt"} ! distal hereditary motor neuropathy type 7
property_value: exactMatch http://identifiers.org/mesh/C564362
property_value: exactMatch http://identifiers.org/omim/607641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843315

[Term]
id: MONDO:0011880
name: CANDF3
synonym: "CANDF3" EXACT [MONDO:Lexical, OMIM:607644]
synonym: "candidiasis, familial chronic nail, with Icam1 deficiency" RELATED [OMIM:607644]
synonym: "candidiasis, familial, 3" RELATED [MONDO:Lexical, OMIM:607644]
synonym: "candidiasis, familial, 3; CANDF3" RELATED [OMIM:607644]
synonym: "Fcnc" RELATED [OMIM:607644]
xref: MESH:C564361 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607644 {source="MONDO:equivalentTo"}
xref: UMLS:C1843306 {source="OMIM:607644", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 {source="MONDOLEX:0011880", source="OMIM:607644"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/mesh/C564361
property_value: exactMatch http://identifiers.org/omim/607644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843306

[Term]
id: MONDO:0011881
name: keratosis palmoplantaris striata 3
def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009173"}
synonym: "keratoderma palmoplantar striate form 3" RELATED [GARD:0009173]
synonym: "keratoderma, palmoplantar, striate form 3" RELATED [OMIM:607654]
synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical, OMIM:607654]
synonym: "keratosis palmoplantaris striata III; PPKS3" RELATED [OMIM:607654]
synonym: "keratosis palmoplantaris striata type 3" EXACT [MONDORULE:1, OMIM:607654]
synonym: "KRT1 striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPKS3" RELATED [MONDO:Lexical, OMIM:607654]
synonym: "striate palmoplantar keratoderma 3" RELATED [OMIM:607654]
synonym: "striate palmoplantar keratoderma caused by mutation in KRT1" EXACT [MONDO:design_pattern]
xref: GARD:0009173 {source="MONDO:equivalentTo"}
xref: MESH:C536163 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607654 {source="MONDO:equivalentTo"}
xref: UMLS:C2931123 {source="MONDO:equivalentTo", source="OMIM:607654"}
is_a: MONDO:0018865 {source="MONDO:Redundant", source="ORDO:50942/btnt"} ! striate palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843302
property_value: exactMatch http://identifiers.org/mesh/C536163
property_value: exactMatch http://identifiers.org/omim/607654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 xsd:anyURI {source="GARD:0009173"}

[Term]
id: MONDO:0011882
name: skin fragility-woolly hair-palmoplantar keratoderma syndrome
subset: gard_rare {source="GARD:0005231"}
subset: ordo_disease {source="Orphanet:293165"}
synonym: "SFWHS" RELATED [MONDO:Lexical, OMIM:607655]
synonym: "skin fragility woolly hair syndrome" RELATED [GARD:0005231]
synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655]
synonym: "skin fragility-woolly hair syndrome; SFWHS" RELATED [OMIM:607655]
synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165]
xref: GARD:0005231 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:293165/attributed", source="ORDO:293165/ntbt", source="Orphanet:293165"}
xref: MESH:C564359 {source="MONDO:equivalentTo"}
xref: OMIM:607655 {source="ORDO:293165/e", source="MONDO:equivalentTo", source="Orphanet:293165"}
xref: Orphanet:293165 {source="OMIM:607655", source="MONDO:equivalentTo"}
xref: UMLS:C1843292 {source="OMIM:607655", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017671 {source="Orphanet:293165"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0018558 {source="Orphanet:293165"} ! syndrome with woolly hair
property_value: exactMatch http://identifiers.org/mesh/C564359
property_value: exactMatch http://identifiers.org/omim/607655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843292
property_value: exactMatch Orphanet:293165
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome xsd:anyURI {source="GARD:0005231"}

[Term]
id: MONDO:0011883
name: Curly hair - acral keratoderma - caries syndrome
def: "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." [Orphanet:307766]
subset: gard_rare {source="GARD:0010163"}
subset: ordo_disease {source="Orphanet:307766"}
synonym: "Chac syndrome" EXACT [Orphanet:307766]
synonym: "CHACS" EXACT [Orphanet:307766]
synonym: "Chacs" RELATED [OMIM:607656]
synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656]
xref: GARD:0010163 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:307766/attributed", source="ORDO:307766/ntbt", source="Orphanet:307766"}
xref: MESH:C536220 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607656 {source="MONDO:equivalentTo", source="Orphanet:307766", source="ORDO:307766/e"}
xref: Orphanet:307766 {source="OMIM:607656", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:307766"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:307766"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020094 {source="Orphanet:307766"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536220
property_value: exactMatch http://identifiers.org/omim/607656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843291
property_value: exactMatch Orphanet:307766
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome xsd:anyURI {source="GARD:0010163"}

[Term]
id: MONDO:0011884
name: hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
def: "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." [Orphanet:307936]
subset: ordo_disease {source="Orphanet:307936"}
synonym: "HOPP syndrome" EXACT [Orphanet:307936]
synonym: "Hopp syndrome" RELATED [OMIM:607658]
synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:307936]
synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658]
synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936]
synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936]
xref: ICD10:Q82.8 {source="Orphanet:307936", source="ORDO:307936/attributed", source="ORDO:307936/ntbt"}
xref: MESH:C564357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607658 {source="ORDO:307936/e", source="Orphanet:307936", source="MONDO:equivalentTo"}
xref: Orphanet:307936 {source="OMIM:607658", source="MONDO:equivalentTo"}
xref: SCTID:763658004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843285 {source="OMIM:607658", source="NCBI:mim2gene_medline", source="Orphanet:307936", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:307936"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:307936"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020095 {source="Orphanet:307936"} ! autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/mesh/C564357
property_value: exactMatch http://identifiers.org/omim/607658
property_value: exactMatch http://identifiers.org/snomedct/763658004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843285
property_value: exactMatch Orphanet:307936

[Term]
id: MONDO:0011885
name: tubulointerstitial nephritis and uveitis syndrome
def: "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." [NCIT:P378]
subset: ordo_disease {source="Orphanet:91500"}
synonym: "acute Tubulointerstitial nephritis" RELATED [OMIM:607665]
synonym: "acute tubulointerstitial nephritis and uveitis syndrome" EXACT [Orphanet:91500]
synonym: "Dobrin syndrome" EXACT [Orphanet:91500]
synonym: "TINU" RELATED [MONDO:Lexical, OMIM:607665]
synonym: "TINU syndrome" EXACT [Orphanet:91500]
synonym: "Tubulointerstitial nephritis and uveitis" EXACT [NCIT:C123021]
synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical, OMIM:607665]
synonym: "TUBULOINTERSTITIAL nephritis with uveitis; TINU" RELATED [OMIM:607665]
xref: GARD:0009252 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:N10 {source="MONDO:relatedTo", source="ORDO:91500/ntbt", source="Orphanet:91500"}
xref: MedDRA:10069034 {source="ORDO:91500/e", source="Orphanet:91500"}
xref: MedDRA:10069039 {source="ORDO:91500/e", source="Orphanet:91500"}
xref: NCIT:C123021 {source="MONDO:kboom-pr-0.99/0.72/4.34", source="MONDO:equivalentTo"}
xref: OMIM:607665 {source="MONDO:equivalentTo", source="ORDO:91500/e", source="Orphanet:91500"}
xref: Orphanet:91500 {source="MONDO:equivalentTo", source="OMIM:607665"}
xref: UMLS:C1843273 {source="NCIT:C123021", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91500", source="MEDGEN:kboom-pr95-c98", source="OMIM:607665"}
is_a: MONDO:0002254 {source="MONDOLEX:0011885", source="NCIT:C123021"} ! syndromic disease
is_a: MONDO:0017259 {source="Orphanet:91500"} ! systemic diseases with anterior uveitis
is_a: MONDO:0019744 {source="Orphanet:91500"} ! rare renal tubular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843274
property_value: exactMatch http://identifiers.org/meddra/10069034
property_value: exactMatch http://identifiers.org/meddra/10069039
property_value: exactMatch http://identifiers.org/mesh/C536922
property_value: exactMatch http://identifiers.org/omim/607665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1639520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609298
property_value: exactMatch NCIT:C123021
property_value: exactMatch Orphanet:91500

[Term]
id: MONDO:0011886
name: torsion dystonia 13
def: "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." [Orphanet:98807]
subset: ordo_disease {source="Orphanet:98807"}
synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607671]
synonym: "dystonia 13, torsion, autosomal dominant; DYT13" RELATED [OMIM:607671]
synonym: "DYT13" EXACT [MONDO:Lexical, OMIM:607671, Orphanet:98807]
synonym: "primary dystonia with mixed phenotype" EXACT [Orphanet:98807]
synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807]
synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807]
synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2]
xref: DOID:0090037 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="ORDO:98807/attributed", source="ORDO:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"}
xref: MESH:C564354 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607671 {source="MONDO:equivalentTo", source="ORDO:98807/e", source="DOID:0090037", source="Orphanet:98807"}
xref: Orphanet:98807 {source="MONDO:equivalentTo", source="DOID:0090037", source="OMIM:607671"}
xref: SCTID:719278006 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"}
is_a: MONDO:0015990 {source="Orphanet:98807"} ! focal, segmental or multifocal dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843264
property_value: exactMatch DOID:0090037
property_value: exactMatch http://identifiers.org/mesh/C564354
property_value: exactMatch http://identifiers.org/omim/607671
property_value: exactMatch http://identifiers.org/snomedct/719278006
property_value: exactMatch Orphanet:98807

[Term]
id: MONDO:0011887
name: cataract, congenital, with mental impairment and dentate gyrus atrophy
synonym: "cataract, congenital, with mental impairment and dentate gyrus atrophy" EXACT [OMIM:607674]
xref: MESH:C564353 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607674 {source="MONDO:equivalentTo"}
xref: UMLS:C1843257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607674"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564353
property_value: exactMatch http://identifiers.org/omim/607674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843257

[Term]
id: MONDO:0011888
name: immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
def: "Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." [Orphanet:70592]
subset: ordo_disease {source="Orphanet:70592"}
synonym: "Interleukin receptor-associated kinase deficiency" RELATED [GARD:0010311]
synonym: "IRAK-4 deficiency" RELATED [GARD:0010311]
synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592]
synonym: "Irak4D" RELATED [OMIM:607676]
xref: GARD:0010311 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D84.8 {source="Orphanet:70592", source="ORDO:70592/attributed", source="ORDO:70592/ntbt"}
xref: MESH:C564352 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source="ORDO:70592/e"}
xref: Orphanet:70592 {source="MONDO:equivalentTo", source="OMIM:607676"}
xref: UMLS:C1843256 {source="Orphanet:70592", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:607676"}
is_a: MONDO:0015979 {source="Orphanet:70592"} ! hereditary predisposition to infections
property_value: exactMatch http://identifiers.org/mesh/C564352
property_value: exactMatch http://identifiers.org/omim/607676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843256
property_value: exactMatch Orphanet:70592

[Term]
id: MONDO:0011889
name: Charcot-Marie-Tooth disease type 2I
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." [Orphanet:99942]
subset: gard_rare {source="GARD:0009197"}
subset: ordo_disease {source="Orphanet:99942"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [Orphanet:99942]
synonym: "Charcot Marie Tooth disease type 2I" RELATED [GARD:0009197]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" RELATED [GARD:0009197, MONDO:Lexical, OMIM:607677]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2I; CMT2I" RELATED [OMIM:607677]
synonym: "Charcot-Marie-Tooth neuropathy type 2I" EXACT [DOID:0110158]
synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [OMIM:607677]
synonym: "CMT 2I" RELATED [GARD:0009197]
synonym: "CMT2I" EXACT [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942]
xref: DOID:0110158 {source="MONDO:equivalentTo"}
xref: GARD:0009197 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99942", source="ORDO:99942/attributed", source="ORDO:99942/ntbt", source="DOID:0110158"}
xref: OMIM:607677 {source="ORDO:99942/e", source="Orphanet:99942", source="MONDO:equivalentTo", source="DOID:0110158"}
xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"}
xref: SCTID:717013009 {source="MONDO:equivalentTo"}
xref: UMLS:CN207466 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate d
is_a: MONDO:0018993 {source="DOID:0110158", source="Orphanet:99942"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843251
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888087
property_value: exactMatch DOID:0110158
property_value: exactMatch http://identifiers.org/omim/607677
property_value: exactMatch http://identifiers.org/snomedct/717013009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207466
property_value: exactMatch Orphanet:99942
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i xsd:anyURI {source="GARD:0009197"}

[Term]
id: MONDO:0011890
name: Charcot-Marie-Tooth disease type 1D
def: "gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." [Orphanet:101084]
subset: gard_rare {source="GARD:0009189"}
subset: ordo_disease {source="Orphanet:101084"}
synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical, OMIM:607678]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D; CMT1D" RELATED [OMIM:607678]
synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [DOID:0110150]
synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [OMIM:607678]
synonym: "CMT 1D" RELATED [GARD:0009189]
synonym: "CMT1D" EXACT [DOID:0110150, MONDO:Lexical, OMIM:607678, Orphanet:101084]
synonym: "EGR2 Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary motor and sensory neuropathy 1D" EXACT [DOID:0110150, OMIM:607678]
synonym: "HMSN 1D" RELATED [OMIM:607678]
synonym: "HMSN ID" EXACT [DOID:0110150]
synonym: "HMSN1D" EXACT [DOID:0110150]
synonym: "HMSN1D" RELATED [OMIM:607678]
xref: DOID:0110150 {source="MONDO:equivalentTo"}
xref: GARD:0009189 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:101084/attributed", source="ORDO:101084/ntbt", source="DOID:0110150", source="Orphanet:101084"}
xref: MESH:C537985 {source="MONDO:equivalentTo", source="ORDO:101084/e", source="MONDO:ontobio", source="Orphanet:101084"}
xref: OMIM:607678 {source="DOID:0110150", source="MONDO:equivalentTo", source="ORDO:101084/e", source="Orphanet:101084"}
xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"}
xref: SCTID:719979008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.21"}
xref: UMLS:C1843247 {source="OMIM:607678", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101084/e", source="Orphanet:101084"}
is_a: MONDO:0019011 {source="DOID:0110150", source="MONDO:Redundant", source="Orphanet:101084", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 1
property_value: exactMatch DOID:0110150
property_value: exactMatch http://identifiers.org/mesh/C537985
property_value: exactMatch http://identifiers.org/omim/607678
property_value: exactMatch http://identifiers.org/snomedct/719979008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843247
property_value: exactMatch Orphanet:101084
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d xsd:anyURI {source="GARD:0009189"}

[Term]
id: MONDO:0011891
name: febrile seizures, familial, 8
def: "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." [OMIM:607681]
subset: predisposition
synonym: "childhood absence epilepsy caused by mutation in GABRG2" EXACT [MONDO:design_pattern]
synonym: "ECA2" RELATED [MONDO:Lexical, OMIM:607681]
synonym: "epilepsy, childhood absence, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607681]
synonym: "epilepsy, childhood absence, susceptibility to, 2; ECA2" RELATED [OMIM:607681]
synonym: "epilepsy, childhood absence, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:607681]
synonym: "GABRG2 childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GABRG2 generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Gefs+, type 3" RELATED [OMIM:611277]
synonym: "GEFSP3" RELATED [MONDO:Lexical, OMIM:611277]
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277]
synonym: "generalized epilepsy with febrile seizures plus, type 3; GEFSP3" RELATED [OMIM:611277]
synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681]
xref: MESH:C565811 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607681 {source="MONDO:equivalentTo"}
xref: OMIM:611277 {source="MONDO:equivalentTo"}
xref: UMLS:C1843244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607681"}
xref: UMLS:C1858674 {source="OMIM:611277", source="MONDO:equivalentTo"}
is_a: MONDO:0000032 {source="DC-OMIM:611277", source="OMIM:611277"} ! febrile seizures, familial
is_a: MONDO:0010826 {source="OMIM:PS600131", source="https://github.com/monarch-initiative/mondo/issues/1062"} ! childhood absence epilepsy
is_a: MONDO:0018214 {source="DC-OMIM:611277", source="MONDO:Redundant", source="OMIM:611277"} ! generalized epilepsy with febrile seizures plus
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0010826 ! childhood absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969810
property_value: exactMatch http://identifiers.org/mesh/C565811
property_value: exactMatch http://identifiers.org/omim/607681
property_value: exactMatch http://identifiers.org/omim/611277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858674

[Term]
id: MONDO:0011892
name: epilepsy, idiopathic generalized, susceptibility to, 9
def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNB4 generalised epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG9" RELATED [MONDO:Lexical, OMIM:607682]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:607682]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 9; EIG9" RELATED [OMIM:607682]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:607682]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [OMIM:607682]
synonym: "generalised epilepsy caused by mutation in CACNB4" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [OMIM:607682]
xref: OMIM:607682 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750887
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750888
property_value: exactMatch http://identifiers.org/omim/607682

[Term]
id: MONDO:0011893
name: autosomal dominant nonsyndromic deafness 52
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32." [DOID:0110578, PMID:18312703]
synonym: "autosomal dominant deafness 52" EXACT [DOID:0110578]
synonym: "autosomal dominant nonsyndromic deafness type 52" EXACT [DOID:0110578, MONDORULE:2]
synonym: "deafness, autosomal dominant 42" RELATED [OMIM:607683]
synonym: "deafness, autosomal dominant 52" RELATED [MONDO:Lexical, OMIM:607683]
synonym: "deafness, autosomal dominant 52; DFNA52" RELATED [OMIM:607683]
synonym: "DFNA52" EXACT [DOID:0110578, MONDO:Lexical, OMIM:607683]
xref: DOID:0110578 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110578"}
xref: MESH:C564348 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607683 {source="DOID:0110578", source="MONDO:equivalentTo"}
xref: UMLS:C1843232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607683"}
is_a: MONDO:0019587 {source="DC-OMIM:607683", source="DOID:0110578", source="OMIM:607683"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110578
property_value: exactMatch http://identifiers.org/mesh/C564348
property_value: exactMatch http://identifiers.org/omim/607683
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843232

[Term]
id: MONDO:0011894
name: Charcot-Marie-Tooth disease type 2E
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." [Orphanet:99939]
subset: gard_rare {source="GARD:0009193"}
subset: ordo_disease {source="Orphanet:99939"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165]
synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical, OMIM:607684]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2E; CMT2E" RELATED [OMIM:607684]
synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [DOID:0110165]
synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [OMIM:607684]
synonym: "CMT 2E" RELATED [GARD:0009193]
synonym: "CMT2E" EXACT [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939]
synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110165 {source="MONDO:equivalentTo"}
xref: GARD:0009193 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99939/attributed", source="ORDO:99939/ntbt", source="DOID:0110165", source="Orphanet:99939"}
xref: MESH:C537994 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C134953 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:607684 {source="MONDO:equivalentTo", source="ORDO:99939/e", source="DOID:0110165", source="Orphanet:99939"}
xref: Orphanet:99939 {source="MONDO:equivalentTo", source="DOID:0110165", source="OMIM:607684"}
xref: SCTID:717012004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018993 {source="DOID:0110165", source="MONDO:Redundant", source="Orphanet:99939"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843225
property_value: exactMatch DOID:0110165
property_value: exactMatch http://identifiers.org/mesh/C537994
property_value: exactMatch http://identifiers.org/omim/607684
property_value: exactMatch http://identifiers.org/snomedct/717012004
property_value: exactMatch NCIT:C134953
property_value: exactMatch Orphanet:99939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e xsd:anyURI {source="GARD:0009193"}

[Term]
id: MONDO:0011895
name: idiopathic hypereosinophilic syndrome
subset: ordo_disease {source="Orphanet:3260"}
synonym: "HES" RELATED [MONDO:Lexical, OMIM:607685]
synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685]
synonym: "hypereosinophilic syndrome, idiopathic; HES" RELATED [OMIM:607685]
xref: ICD10:D47.5 {source="ORDO:3260/ntbt", source="Orphanet:3260"}
xref: OMIM:607685 {source="MONDO:equivalentTo", source="Orphanet:3260", source="ORDO:3260/e"}
xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"}
xref: SCTID:423294001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.48"}
xref: UMLS:C0206141 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3260", source="ORDO:3260/e", source="OMIM:607685"}
is_a: MONDO:0015691 {source="MONDOLEX:0011895", source="Orphanet:3260"} ! hypereosinophilic syndrome
property_value: exactMatch http://identifiers.org/omim/607685
property_value: exactMatch http://identifiers.org/snomedct/423294001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206141
property_value: exactMatch Orphanet:3260

[Term]
id: MONDO:0011896
name: Parkinson disease 11, autosomal dominant, susceptibility to
def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "GIGYF2 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in GIGYF2" EXACT [MONDO:design_pattern]
synonym: "PARK11" RELATED [MONDO:Lexical, OMIM:607688]
synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:607688]
synonym: "Parkinson disease 11, autosomal dominant, susceptibility to; PARK11" RELATED [OMIM:607688]
synonym: "susceptibility to autosomal dominant Parkinson disease 11" RELATED [OMIM:607688]
xref: MESH:C564345 {source="MONDO:equivalentTo"}
xref: OMIM:607688 {source="MONDO:equivalentTo"}
xref: UMLS:C1843211 {source="OMIM:607688", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! hereditary late onset Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C564345
property_value: exactMatch http://identifiers.org/omim/607688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843211

[Term]
id: MONDO:0011897
name: leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
def: "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." [Orphanet:137639]
subset: ordo_disease {source="Orphanet:137639"}
synonym: "4H syndrome" RELATED [OMIM:607694]
synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [OMIM:607694]
synonym: "ataxia-delayed dentition-hypomyelination syndrome" EXACT [Orphanet:137639]
synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [DOID:0060794]
synonym: "dentoleukoencephalopathy" EXACT [DOID:0060794]
synonym: "HLD7" EXACT [DOID:0060794, MONDO:Lexical, OMIM:607694]
synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" RELATED [DOID:0060794]
synonym: "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" RELATED [Orphanet:137639]
synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT [DOID:0060794]
synonym: "leukodystrophy with oligodontia" EXACT EXCLUDE [DOID:0060794]
synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:607694]
synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD7" RELATED [OMIM:607694]
synonym: "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism" RELATED [OMIM:607694]
synonym: "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" RELATED [OMIM:607694]
synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [DOID:0060794]
synonym: "tach syndrome" EXACT [DOID:0060794]
synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT EXCLUDE [DOID:0060794]
xref: DOID:0060794 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:137639/attributed", source="ORDO:137639/ntbt", source="Orphanet:137639"}
xref: ICD10:G11.1 {source="DOID:0060794"}
xref: OMIM:607694 {source="DOID:0060794", source="ORDO:137639/ntbt", source="MONDO:equivalentTo", source="Orphanet:137639"}
xref: Orphanet:137639 {source="DOID:0060794", source="MONDO:equivalentTo", source="OMIM:607694"}
xref: SCTID:721846006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.37/0.09"}
is_a: MONDO:0017333 {source="Orphanet:137639"} ! hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843200
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676243
property_value: exactMatch DOID:0060794
property_value: exactMatch http://identifiers.org/omim/607694
property_value: exactMatch http://identifiers.org/snomedct/721846006
property_value: exactMatch Orphanet:137639

[Term]
id: MONDO:0011898
name: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" EXACT [OMIM:607706]
synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [OMIM:607706]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706]
synonym: "CMT2 with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706]
xref: OMIM:607706 {source="MONDO:equivalentTo"}
xref: UMLS:C1843183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607706"}
is_a: MONDO:0012014 ! Charcot-Marie-Tooth disease recessive intermediate a
property_value: exactMatch http://identifiers.org/omim/607706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843183

[Term]
id: MONDO:0011899
name: Noonan syndrome-like disorder with loose anagen hair
def: "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays." [Orphanet:2701]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:2701"}
subset: prototype_pattern
synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT [MONDO:Lexical, OMIM:607721]
synonym: "Noonan syndrome-like disorder with loose anagen hair 1" RELATED [OMIM:607721]
synonym: "Noonan syndrome-like disorder with loose anagen hair 1; NSLH1" RELATED [OMIM:607721]
synonym: "Noonan syndrome-like disorder with loose anagen hair; NSLH" RELATED [OMIM:607721]
synonym: "Noonan-like syndrome with loose anagen hair" RELATED [GARD:0010719]
synonym: "NS/LAH" EXACT [Orphanet:2701]
synonym: "NSLH" RELATED [MONDO:Lexical, OMIM:607721]
synonym: "NSLH1" RELATED [OMIM:607721]
synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701]
xref: GARD:0010719 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="ORDO:2701/attributed", source="ORDO:2701/ntbt", source="Orphanet:2701"}
xref: MESH:C564342 {source="MONDO:equivalentTo"}
xref: OMIMPS:607721 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2701 {source="OMIM:607721", source="MONDO:equivalentTo"}
xref: SCTID:723444009 {source="MONDO:equivalentTo"}
xref: UMLS:C1843181 {source="OMIM:607721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C3501846 {source="MONDO:equivalentTo", source="Orphanet:2701", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010908 ! loose anagen syndrome
is_a: MONDO:0015218 {source="Orphanet:2701"} ! syndromic developmental defect of the eye
is_a: MONDO:0020297 {source="Orphanet:2701"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0021034 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2701"} ! genetic alopecia
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2701"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C564342
property_value: exactMatch http://identifiers.org/omim/607721
property_value: exactMatch http://identifiers.org/snomedct/723444009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501846
property_value: exactMatch Orphanet:2701

[Term]
id: MONDO:0011900
name: POROK4
synonym: "POROK4" EXACT [MONDO:Lexical, OMIM:607728]
synonym: "porokeratosis 4, disseminated superficial actinic type" RELATED [MONDO:Lexical, OMIM:607728]
synonym: "porokeratosis 4, disseminated superficial actinic type; POROK4" RELATED [OMIM:607728]
synonym: "porokeratosis, disseminated superficial actinic, 2" RELATED [OMIM:607728]
xref: OMIM:607728 {source="MONDO:equivalentTo"}
xref: UMLS:C1843180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607728"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: exactMatch http://identifiers.org/omim/607728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843180

[Term]
id: MONDO:0011901
name: Charcot-Marie-Tooth disease axonal type 2H
def: "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." [Orphanet:101102]
comment: Not in the OMIM series. {source="OMIM:607731"}
subset: ordo_disease {source="Orphanet:101102"}
synonym: "AR-CMT2C" EXACT [DOID:0110166, Orphanet:101102]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [DOID:0110166]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [DOID:0110166]
synonym: "autosomal recessive axonal CMT4C2" EXACT [DOID:0110166, Orphanet:101102]
synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [DOID:0110166, Orphanet:101102]
synonym: "Charcot Marie Tooth disease type 2H" RELATED [GARD:0009196]
synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [DOID:0110166]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2H" RELATED [MONDO:Lexical, OMIM:607731]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2H; CMT2H" RELATED [OMIM:607731]
synonym: "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731]
synonym: "CMT 2H" RELATED [GARD:0009196]
synonym: "CMT2H" EXACT [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102]
xref: DOID:0110166 {source="MONDO:equivalentTo"}
xref: GARD:0009196 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:101102", source="ORDO:101102/attributed", source="ORDO:101102/ntbt", source="DOID:0110166"}
xref: MESH:C535415 {source="Orphanet:101102", source="ORDO:101102/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607731 {source="Orphanet:101102", source="ORDO:101102/e", source="MONDO:equivalentTo", source="DOID:0110166"}
xref: Orphanet:101102 {source="MONDO:equivalentTo", source="DOID:0110166", source="OMIM:607731"}
xref: SCTID:720637005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1843173 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:101102", source="ORDO:101102/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607731"}
is_a: MONDO:0018993 {source="DOID:0110166"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0011901", source="Orphanet:101102"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110166
property_value: exactMatch http://identifiers.org/mesh/C535415
property_value: exactMatch http://identifiers.org/omim/607731
property_value: exactMatch http://identifiers.org/snomedct/720637005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843173
property_value: exactMatch Orphanet:101102

[Term]
id: MONDO:0011902
name: Charcot-Marie-Tooth disease type 1F
def: "gene (8p21.2)." [Orphanet:101085]
subset: gard_rare {source="GARD:0009191"}
subset: ordo_disease {source="Orphanet:101085"}
synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical, OMIM:607734]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F; CMT1F" RELATED [OMIM:607734]
synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [DOID:0110149]
synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [OMIM:607734]
synonym: "CMT 1F" RELATED [GARD:0009191]
synonym: "CMT1F" EXACT [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085]
synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110149 {source="MONDO:equivalentTo"}
xref: GARD:0009191 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110149", source="Orphanet:101085", source="ORDO:101085/attributed", source="ORDO:101085/ntbt"}
xref: MESH:C537987 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607734 {source="DOID:0110149", source="MONDO:equivalentTo", source="Orphanet:101085", source="ORDO:101085/e"}
xref: Orphanet:101085 {source="DOID:0110149", source="OMIM:607734", source="MONDO:equivalentTo"}
xref: SCTID:719980006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.21"}
xref: UMLS:C1843164 {source="MEDGEN:kboom-pr98-c99", source="OMIM:607734", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101085"}
is_a: MONDO:0019011 {source="DOID:0110149", source="MONDO:Redundant", source="Orphanet:101085", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 1
property_value: exactMatch DOID:0110149
property_value: exactMatch http://identifiers.org/mesh/C537987
property_value: exactMatch http://identifiers.org/omim/607734
property_value: exactMatch http://identifiers.org/snomedct/719980006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843164
property_value: exactMatch Orphanet:101085
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f xsd:anyURI {source="GARD:0009191"}

[Term]
id: MONDO:0011903
name: Charcot-Marie-Tooth disease type 2J
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." [Orphanet:99943]
subset: gard_rare {source="GARD:0009198"}
subset: ordo_disease {source="Orphanet:99943"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [Orphanet:99943]
synonym: "Charcot Marie Tooth disease type 2J" RELATED [GARD:0009198]
synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [DOID:0110157]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2J" RELATED [GARD:0009198, MONDO:Lexical, OMIM:607736]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2J; CMT2J" RELATED [OMIM:607736]
synonym: "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities" RELATED [OMIM:607736]
synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [DOID:0110157]
synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [OMIM:607736]
synonym: "CMT 2J" RELATED [GARD:0009198]
synonym: "CMT2J" EXACT [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943]
xref: DOID:0110157 {source="MONDO:equivalentTo"}
xref: GARD:0009198 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99943", source="ORDO:99943/attributed", source="ORDO:99943/ntbt", source="DOID:0110157"}
xref: MESH:C535417 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607736 {source="ORDO:99943/e", source="Orphanet:99943", source="MONDO:equivalentTo", source="DOID:0110157"}
xref: Orphanet:99943 {source="OMIM:607736", source="MONDO:equivalentTo", source="DOID:0110157"}
xref: SCTID:717014003 {source="MONDO:equivalentTo"}
is_a: MONDO:0011909 ! Charcot-Marie-Tooth disease dominant intermediate d
is_a: MONDO:0018993 {source="DOID:0110157", source="Orphanet:99943"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843153
property_value: exactMatch DOID:0110157
property_value: exactMatch http://identifiers.org/mesh/C535417
property_value: exactMatch http://identifiers.org/omim/607736
property_value: exactMatch http://identifiers.org/snomedct/717014003
property_value: exactMatch Orphanet:99943
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j xsd:anyURI {source="GARD:0009198"}

[Term]
id: MONDO:0011904
name: seizures, benign familial infantile, 3
def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "benign familial infantile epilepsy caused by mutation in SCN2A" EXACT [MONDO:design_pattern]
synonym: "BFIS3" RELATED [MONDO:Lexical, OMIM:607745]
synonym: "convulsions, benign familial infantile, 3" RELATED [OMIM:607745]
synonym: "SCN2A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607745]
synonym: "seizures, benign familial infantile, 3; BFIS3" RELATED [OMIM:607745]
synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745]
synonym: "seizures, benign familial neonatal-infantile" RELATED [OMIM:607745]
xref: OMIM:607745 {source="MONDO:equivalentTo"}
xref: UMLS:C1843140 {source="OMIM:607745", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017615 {source="DC-OMIM:607745", source="MONDO:Redundant", source="OMIM:607745"} ! benign familial infantile epilepsy
property_value: exactMatch http://identifiers.org/omim/607745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843140

[Term]
id: MONDO:0011905
name: familial hypercholanemia
def: "Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." [Orphanet:238475]
subset: ordo_disease {source="Orphanet:238475"}
synonym: "FHCA" RELATED [MONDO:Lexical, OMIM:607748]
synonym: "hereditary hypercholanemia" EXACT [Orphanet:238475]
synonym: "hypercholanemia, familial" RELATED [MONDO:Lexical, OMIM:607748]
synonym: "hypercholanemia, familial; FHCA" RELATED [OMIM:607748]
xref: MESH:C564336 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607748 {source="MONDO:equivalentTo", source="Orphanet:238475", source="ORDO:238475/e"}
xref: Orphanet:238475 {source="OMIM:607748", source="MONDO:equivalentTo"}
xref: SCTID:723360007 {source="MONDO:equivalentTo"}
xref: UMLS:C1843139 {source="MEDGEN:kboom-pr98-c99", source="OMIM:607748", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:238475"}
is_a: MONDO:0015581 {source="Orphanet:238475"} ! bile acid synthesis defect with cholestasis and malabsorption
property_value: exactMatch http://identifiers.org/mesh/C564336
property_value: exactMatch http://identifiers.org/omim/607748
property_value: exactMatch http://identifiers.org/snomedct/723360007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843139
property_value: exactMatch Orphanet:238475

[Term]
id: MONDO:0011906
name: congenital bile acid synthesis defect 1
def: "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." [Orphanet:79301]
subset: ordo_disease {source="Orphanet:79301"}
synonym: "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of" RELATED [GARD:0009813]
synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [OMIM:607765]
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" EXACT [Orphanet:79301]
synonym: "BASD1" EXACT [Orphanet:79301]
synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical, OMIM:607765]
synonym: "bile acid synthesis defect, congenital, 1; CBAS1" RELATED [OMIM:607765]
synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1, OMIM:607765]
synonym: "CBAS1" EXACT [DOID:0111071, MONDO:Lexical, OMIM:607765]
synonym: "congenital bile acid synthesis defect caused by mutation in HSD3B7" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MONDORULE:1]
synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813]
synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111071 {source="MONDO:equivalentTo"}
xref: GARD:0009813 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K76.8 {source="ORDO:79301/attributed", source="ORDO:79301/ntbt", source="DOID:0111071", source="Orphanet:79301"}
xref: MESH:C535442 {source="DOID:0111071", source="MONDO:equivalentTo", source="ORDO:79301/e", source="Orphanet:79301"}
xref: OMIM:607765 {source="DOID:0111071", source="MONDO:equivalentTo", source="ORDO:79301/e", source="Orphanet:79301"}
xref: Orphanet:79301 {source="OMIM:607765", source="DOID:0111071", source="MONDO:equivalentTo"}
is_a: MONDO:0018841 {source="DC-OMIM:607765", source="DOID:0111071", source="MONDO:Redundant", source="OMIM:607765", source="Orphanet:79301"} ! congenital bile acid synthesis defect
property_value: exactMatch DOID:0111071
property_value: exactMatch http://identifiers.org/mesh/C535442
property_value: exactMatch http://identifiers.org/omim/607765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843116
property_value: exactMatch Orphanet:79301

[Term]
id: MONDO:0011907
name: acrocapitofemoral dysplasia
def: "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." [Orphanet:63446]
subset: gard_rare {source="GARD:0010605"}
subset: ordo_malformation_syndrome {source="Orphanet:63446"}
synonym: "ACFD" RELATED [MONDO:Lexical, OMIM:607778]
synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778]
synonym: "acrocapitofemoral dysplasia; ACFD" RELATED [OMIM:607778]
xref: DOID:0050604 {source="MONDO:equivalentTo"}
xref: GARD:0010605 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:63446", source="ORDO:63446/attributed", source="ORDO:63446/ntbt"}
xref: MESH:C564334 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607778 {source="ORDO:63446/e", source="Orphanet:63446", source="MONDO:equivalentTo", source="DOID:0050604"}
xref: Orphanet:63446 {source="OMIM:607778", source="MONDO:equivalentTo"}
xref: SCTID:720416007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1843096 {source="OMIM:607778", source="Orphanet:63446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0050604"} ! osteochondrodysplasia
is_a: MONDO:0019695 {source="Orphanet:63446"} ! acromelic dysplasia
property_value: exactMatch DOID:0050604
property_value: exactMatch http://identifiers.org/mesh/C564334
property_value: exactMatch http://identifiers.org/omim/607778
property_value: exactMatch http://identifiers.org/snomedct/720416007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843096
property_value: exactMatch Orphanet:63446
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia xsd:anyURI {source="GARD:0010605"}

[Term]
id: MONDO:0011908
name: juvenile myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" [NCIT:C9233]
subset: ordo_disease {source="Orphanet:86834"}
synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C9233]
synonym: "JCML" EXACT [NCIT:C9233]
synonym: "JMML" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834]
synonym: "juvenile chronic myelogenous leukemia" EXACT [NCIT:C9233]
synonym: "juvenile chronic myeloid leukemia" EXACT [NCIT:C9233]
synonym: "juvenile chronic myelomonocytic leukemia" EXACT [Orphanet:86834]
synonym: "juvenile myelomonocytic leukemia" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785]
synonym: "juvenile myelomonocytic leukemia; JMML" RELATED [OMIM:607785]
synonym: "leukemia, chronic myelomonocytic" RELATED [OMIM:607785]
synonym: "leukemia, juvenile myelomonocytic" RELATED [OMIM:607785]
xref: DOID:0050458 {source="MONDO:equivalentTo"}
xref: EFO:1000309 {source="MONDO:equivalentTo"}
xref: GARD:0009884 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C93.3 {source="ORDO:86834/e", source="DOID:0050458", source="Orphanet:86834"}
xref: ICD10:C93.30 {source="DOID:0050458"}
xref: ICDO:9946/3 {source="NCIT:C9233"}
xref: MedDRA:10023249 {source="ORDO:86834/e", source="Orphanet:86834"}
xref: MESH:D054429 {source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"}
xref: NCIT:C9233 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo"}
xref: OMIM:607785 {source="EFO:1000309", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"}
xref: ONCOTREE:JMML {source="MONDO:equivalentTo"}
xref: Orphanet:86834 {source="MONDO:equivalentTo", source="OMIM:607785"}
xref: SCTID:445227008 {source="MONDO:kboom-pr-0.92/0.83/0.16", source="DOID:0050458", source="MONDO:equivalentTo"}
xref: UMLS:C0349639 {source="NCIT:C9233", source="NCBI:mim2gene_medline", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="OMIM:607785"}
is_a: MONDO:0020311 ! chronic myelomonocytic leukemia
property_value: closeMatch http://identifiers.org/snomedct/128832006
property_value: closeMatch http://identifiers.org/snomedct/277587001
property_value: exactMatch DOID:0050458
property_value: exactMatch http://identifiers.org/meddra/10023249
property_value: exactMatch http://identifiers.org/mesh/D054429
property_value: exactMatch http://identifiers.org/omim/607785
property_value: exactMatch http://identifiers.org/snomedct/445227008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349639
property_value: exactMatch NCIT:C9233
property_value: exactMatch Orphanet:86834

[Term]
id: MONDO:0011909
name: Charcot-Marie-Tooth disease dominant intermediate d
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." [Orphanet:100046]
subset: ordo_disease {source="Orphanet:100046"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200]
synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207]
synonym: "Charcot-Marie-Tooth disease caused by mutation in MPZ" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [DOID:0110200, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical, OMIM:607791]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate D; CMTDID" RELATED [OMIM:607791]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type D" EXACT [MONDORULE:1, OMIM:607791]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate D" EXACT [DOID:0110200]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [OMIM:607791]
synonym: "CMTDID" EXACT [DOID:0110200, MONDO:Lexical, OMIM:607791, Orphanet:100046]
synonym: "DI-CMTD" EXACT [DOID:0110200]
synonym: "Di-Cmtd" RELATED [OMIM:607791]
synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207]
xref: DOID:0110200 {source="MONDO:equivalentTo"}
xref: GARD:0009207 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:100046", source="ORDO:100046/attributed", source="ORDO:100046/ntbt", source="DOID:0110200"}
xref: MESH:C564333 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607791 {source="Orphanet:100046", source="ORDO:100046/e", source="MONDO:equivalentTo", source="DOID:0110200"}
xref: Orphanet:100046 {source="MONDO:equivalentTo", source="OMIM:607791", source="DOID:0110200"}
xref: SCTID:765747004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843075 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:100046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607791"}
is_a: MONDO:0019548 {source="MONDOLEX:0011909", source="Orphanet:100046"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110200
property_value: exactMatch http://identifiers.org/mesh/C564333
property_value: exactMatch http://identifiers.org/omim/607791
property_value: exactMatch http://identifiers.org/snomedct/765747004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843075
property_value: exactMatch Orphanet:100046

[Term]
id: MONDO:0011910
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
def: "Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C." [Orphanet:265]
subset: ordo_disease {source="Orphanet:265"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1C" EXACT [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265]
synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT [DOID:0110302, Orphanet:265]
synonym: "limb-girdle muscular dystrophy type 1C" RELATED [GARD:0012527]
synonym: "muscular dystrophy limb-girdle type IC" EXACT [DOID:0110302]
synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED [MONDO:Lexical, OMIM:607801]
synonym: "muscular dystrophy, limb-girdle, type 1C; LGMD1C" RELATED [OMIM:607801]
synonym: "muscular dystrophy, limb-girdle, type IC" RELATED [GARD:0012527]
xref: DOID:0110302 {source="MONDO:equivalentTo"}
xref: GARD:0012527 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:265/inclusion", source="ORDO:265/ntbt", source="DOID:0110302", source="Orphanet:265"}
xref: MESH:C563362 {source="MONDO:equivalentTo"}
xref: NCIT:C148318 {source="MONDO:equivalentTo"}
xref: OMIM:607801 {source="DOID:0110302", source="MONDO:equivalentTo", source="ORDO:265/e", source="Orphanet:265"}
xref: Orphanet:265 {source="DOID:0110302", source="OMIM:607801", source="MONDO:equivalentTo"}
xref: SCTID:719986000 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: UMLS:C1832567 {source="OMIM:607801", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:265"}
property_value: exactMatch DOID:0110302
property_value: exactMatch http://identifiers.org/mesh/C563362
property_value: exactMatch http://identifiers.org/omim/607801
property_value: exactMatch http://identifiers.org/snomedct/719986000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832567
property_value: exactMatch NCIT:C148318
property_value: exactMatch Orphanet:265
is_obsolete: true
replaced_by: MONDO:0019947

[Term]
id: MONDO:0011911
name: craniolenticulosutural dysplasia
def: "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." [Orphanet:50814]
subset: ordo_malformation_syndrome {source="Orphanet:50814"}
synonym: "Boyadjiev-Jabs syndrome" EXACT [OMIM:607812, Orphanet:50814]
synonym: "CLSD" RELATED [MONDO:Lexical, OMIM:607812]
synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307]
synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812]
synonym: "craniolenticulosutural dysplasia; CLSD" RELATED [OMIM:607812]
xref: DOID:0070307 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.8 {source="ORDO:50814/attributed", source="ORDO:50814/ntbt", source="Orphanet:50814"}
xref: MESH:C564332 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607812 {source="MONDO:equivalentTo", source="ORDO:50814/e", source="Orphanet:50814"}
xref: Orphanet:50814 {source="OMIM:607812", source="MONDO:equivalentTo"}
xref: SCTID:725100001 {source="MONDO:equivalentTo"}
xref: UMLS:C1843042 {source="MEDGEN:kboom-pr98-c99", source="OMIM:607812", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:50814"}
is_a: MONDO:0043008 {source="Orphanet:50814"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0070307
property_value: exactMatch http://identifiers.org/mesh/C564332
property_value: exactMatch http://identifiers.org/omim/607812
property_value: exactMatch http://identifiers.org/snomedct/725100001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843042
property_value: exactMatch Orphanet:50814

[Term]
id: MONDO:0011912
name: autosomal recessive nonsyndromic deafness 37
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 37" EXACT [DOID:0110495]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 37" EXACT [DOID:0110495, MONDORULE:2]
synonym: "deafness, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:607821]
synonym: "deafness, autosomal recessive 37; DFNB37" RELATED [OMIM:607821]
synonym: "deafness, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:607821]
synonym: "DFNB37" EXACT [DOID:0110495, MONDO:Lexical, OMIM:607821]
synonym: "MYO6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110495 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110495"}
xref: MESH:C564331 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607821 {source="MONDO:equivalentTo", source="DOID:0110495"}
xref: UMLS:C1843028 {source="OMIM:607821", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:607821", source="DOID:0110495", source="MONDO:Redundant", source="OMIM:607821"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110495
property_value: exactMatch http://identifiers.org/mesh/C564331
property_value: exactMatch http://identifiers.org/omim/607821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843028

[Term]
id: MONDO:0011913
name: Alzheimer disease 3
def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." [NCIT:C123412]
synonym: "AD3" EXACT [DOID:0110042, OMIM:607822]
synonym: "Alzheimer disease 3" EXACT [DOID:0110042, OMIM:607822]
synonym: "Alzheimer disease 3, early onset" EXACT [DOID:0110042]
synonym: "Alzheimer disease 3, early-onset" RELATED [OMIM:607822]
synonym: "Alzheimer disease 3; AD" RELATED [OMIM:607822]
synonym: "Alzheimer disease early onset type 3" RELATED [GARD:0009468]
synonym: "Alzheimer disease familial 3" EXACT [DOID:0110042]
synonym: "Alzheimer disease type 3" EXACT [MONDORULE:1, OMIM:607822]
synonym: "Alzheimer disease, familial, 3" RELATED [OMIM:607822]
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" RELATED [OMIM:607822]
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" RELATED [OMIM:607822]
synonym: "Alzheimer's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 3" EXACT [DOID:0110042, MONDORULE:1]
synonym: "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "familial Alzheimer disease, type 3" EXACT [NCIT:C123412]
synonym: "familial Alzheimer's disease, type 3" EXACT [NCIT:C123412]
synonym: "PSEN1 early-onset autosomal dominant Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110042 {source="MONDO:equivalentTo"}
xref: GARD:0009468 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C123412 {source="MONDO:equivalentTo"}
xref: OMIM:607822 {source="MONDO:equivalentTo", source="DOID:0110042"}
is_a: MONDO:0015140 {source="MONDO:Redundant", source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843013
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843014
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843015
property_value: exactMatch DOID:0110042
property_value: exactMatch http://identifiers.org/omim/607822
property_value: exactMatch NCIT:C123412

[Term]
id: MONDO:0011914
name: hypotrichosis-lymphedema-telangiectasia syndrome
synonym: "HLTS" RELATED [MONDO:Lexical, OMIM:607823]
synonym: "hypotrichosis-lymphedema-telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:607823]
synonym: "hypotrichosis-lymphedema-telangiectasia syndrome; HLTS" RELATED [OMIM:607823]
xref: MESH:C564327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607823 {source="MONDO:equivalentTo"}
xref: UMLS:C1843004 {source="OMIM:607823", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
property_value: exactMatch http://identifiers.org/mesh/C564327
property_value: exactMatch http://identifiers.org/omim/607823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843004

[Term]
id: MONDO:0011915
name: MMVP2
synonym: "mitral valve prolapse 2" RELATED [OMIM:607829]
synonym: "mitral valve prolapse 2; MVP2" RELATED [OMIM:607829]
synonym: "mitral valve prolapse, myxomatous 2" RELATED [MONDO:Lexical, OMIM:607829]
synonym: "mitral valve prolapse, myxomatous 2; MMVP2" RELATED [OMIM:607829]
synonym: "MMVP2" EXACT [MONDO:Lexical, OMIM:607829]
synonym: "MVP2" RELATED [OMIM:607829]
synonym: "myxomatous mitral valve prolapse 2" RELATED [OMIM:607829]
xref: MESH:C564326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607829 {source="MONDO:equivalentTo"}
xref: UMLS:C1843003 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607829"}
is_a: MONDO:0008004 {source="MONDOLEX:0011915", source="ORDO:741/btnt"} ! familial mitral valve prolapse
property_value: exactMatch http://identifiers.org/mesh/C564326
property_value: exactMatch http://identifiers.org/omim/607829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843003

[Term]
id: MONDO:0011916
name: Charcot-Marie-Tooth disease axonal type 2K
def: "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:101097]
subset: ordo_disease {source="Orphanet:101097"}
synonym: "ARCMT2K" EXACT [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [DOID:0110167]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive axonal CMT4C4" EXACT [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [DOID:0110167]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" RELATED [OMIM:607831]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K" RELATED [OMIM:607831]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2K" RELATED [MONDO:Lexical, OMIM:607831]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2K; CMT2K" RELATED [OMIM:607831]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831]
synonym: "CMT2K" RELATED [MONDO:Lexical, OMIM:607831]
xref: DOID:0110167 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110167", source="ORDO:101097/attributed", source="ORDO:101097/ntbt", source="Orphanet:101097"}
xref: OMIM:607831 {source="MONDO:equivalentTo", source="DOID:0110167", source="ORDO:101097/btnt", source="Orphanet:101097"}
xref: Orphanet:101097 {source="OMIM:607831", source="MONDO:equivalentTo", source="DOID:0110167"}
xref: SCTID:725047007 {source="MONDO:equivalentTo"}
xref: UMLS:C1842983 {source="OMIM:607831", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101097"}
is_a: MONDO:0018993 {source="DOID:0110167"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDO:Redundant", source="MONDOLEX:0011916", source="Orphanet:101097"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110167
property_value: exactMatch http://identifiers.org/omim/607831
property_value: exactMatch http://identifiers.org/snomedct/725047007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842983
property_value: exactMatch Orphanet:101097

[Term]
id: MONDO:0011917
name: focal segmental glomerulosclerosis 3, susceptibility to
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CD2AP focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:607832]
synonym: "focal segmental glomerulosclerosis 3, susceptibility to; FSGS3" RELATED [OMIM:607832]
synonym: "focal segmental glomerulosclerosis caused by mutation in CD2AP" EXACT [MONDO:design_pattern]
synonym: "FSGS3" RELATED [MONDO:Lexical, OMIM:607832]
synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [OMIM:607832]
synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [OMIM:607832]
xref: OMIM:607832 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005363 ! focal segmental glomerulosclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842982
property_value: exactMatch http://identifiers.org/omim/607832

[Term]
id: MONDO:0011918
name: anxiety
synonym: "anxiety" EXACT [OMIM:607834]
synonym: "harm avoidance" RELATED [OMIM:607834]
xref: OMIM:607834 {source="MONDO:equivalentTo"}
is_a: MONDO:0005618 ! anxiety disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003467
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0679771
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842981
property_value: exactMatch http://identifiers.org/omim/607834

[Term]
id: MONDO:0011919
name: autoimmune disease, susceptibility to, 1
def: "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AIS1" RELATED [MONDO:Lexical, OMIM:607836]
synonym: "autoimmune disease caused by mutation in FOXD3" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease susceptibility locus, chromosome 1P-related" RELATED [OMIM:607836]
synonym: "autoimmune disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607836]
synonym: "autoimmune disease, susceptibility to, 1; AIS1" RELATED [OMIM:607836]
synonym: "autoimmune disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607836]
synonym: "FOXD3 autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to autoimmune disease 1" RELATED [OMIM:607836]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 2" RELATED [OMIM:607836]
xref: OMIM:607836 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842979
property_value: exactMatch http://identifiers.org/omim/607836

[Term]
id: MONDO:0011920
name: autosomal dominant nonsyndromic deafness 48
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 48" EXACT [DOID:0110571]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 48" EXACT [DOID:0110571, MONDORULE:2]
synonym: "deafness, autosomal dominant 48" RELATED [MONDO:Lexical, OMIM:607841]
synonym: "deafness, autosomal dominant 48; DFNA48" RELATED [OMIM:607841]
synonym: "deafness, autosomal dominant type 48" EXACT [MONDORULE:2, OMIM:607841]
synonym: "DFNA48" EXACT [DOID:0110571, MONDO:Lexical, OMIM:607841]
synonym: "MYO1A autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110571 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110571"}
xref: MESH:C564322 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607841 {source="MONDO:equivalentTo", source="DOID:0110571"}
xref: UMLS:C1842939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607841"}
is_a: MONDO:0019587 {source="DC-OMIM:607841", source="DOID:0110571", source="MONDO:Redundant", source="OMIM:607841"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110571
property_value: exactMatch http://identifiers.org/mesh/C564322
property_value: exactMatch http://identifiers.org/omim/607841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842939

[Term]
id: MONDO:0011921
name: aural atresia, congenital
synonym: "aural atresia, congenital" EXACT [MONDO:Lexical, OMIM:607842]
synonym: "aural atresia, congenital, with hyposmia" RELATED [OMIM:607842]
synonym: "aural atresia, congenital; CAA" RELATED [OMIM:607842]
synonym: "CAA" RELATED [MONDO:Lexical, OMIM:607842]
xref: MESH:C564321 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607842 {source="MONDO:equivalentTo"}
xref: UMLS:C1842937 {source="OMIM:607842", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015385 {source="ORDO:141074/btnt"} ! external auditory canal aplasia/hypoplasia
property_value: exactMatch http://identifiers.org/mesh/C564321
property_value: exactMatch http://identifiers.org/omim/607842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842937

[Term]
id: MONDO:0011922
name: adult idiopathic neutropenia
subset: ordo_disease {source="Orphanet:2688"}
synonym: "neutropenia, nonimmune chronic idiopathic, of adults" RELATED [OMIM:607847]
synonym: "Ni-Cina" RELATED [OMIM:607847]
synonym: "nonimmune chronic idiopathic neutropenia of adults" RELATED [OMIM:607847]
xref: ICD10:D70 {source="MONDO:relatedTo", source="ORDO:2688/ntbt", source="Orphanet:2688"}
xref: MESH:C564320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607847 {source="ORDO:2688/e", source="MONDO:equivalentTo", source="Orphanet:2688"}
xref: Orphanet:2688 {source="OMIM:607847", source="MONDO:equivalentTo"}
xref: UMLS:C1842930 {source="OMIM:607847", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2688"}
is_a: MONDO:0015822 {source="Orphanet:2688"} ! acquired neutropenia
property_value: exactMatch http://identifiers.org/mesh/C564320
property_value: exactMatch http://identifiers.org/omim/607847
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842930
property_value: exactMatch Orphanet:2688

[Term]
id: MONDO:0011923
name: osteoarthritis susceptibility 3
def: "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASPN osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OS3" RELATED [MONDO:Lexical, OMIM:607850]
synonym: "osteoarthritis caused by mutation in ASPN" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of knee/hip" RELATED [OMIM:607850]
synonym: "osteoarthritis susceptibility 3" EXACT [MONDO:Lexical, OMIM:607850]
synonym: "osteoarthritis susceptibility 3; OS3" RELATED [OMIM:607850]
synonym: "osteoarthritis susceptibility type 3" EXACT [MONDORULE:1, OMIM:607850]
xref: OMIM:607850 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005178 ! osteoarthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675609
property_value: exactMatch http://identifiers.org/omim/607850

[Term]
id: MONDO:0011924
name: panic disorder 2
synonym: "Pand2" RELATED [OMIM:607853]
synonym: "panic disorder 2" EXACT [OMIM:607853]
synonym: "panic disorder susceptibility locus, chromosome 9Q-related" RELATED [OMIM:607853]
synonym: "panic disorder type 2" EXACT [MONDORULE:1, OMIM:607853]
xref: OMIM:607853 {source="MONDO:equivalentTo"}
xref: UMLS:C1842922 {source="OMIM:607853", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005383 {source="DC-OMIM:607853", source="MONDOLEX:0011924"} ! panic disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/607853
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842922

[Term]
id: MONDO:0011925
name: congenital merosin-deficient muscular dystrophy 1A
def: "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." [Orphanet:258]
subset: ordo_malformation_syndrome {source="Orphanet:258"}
synonym: "CMD1A" EXACT [DOID:0110636, Orphanet:258]
synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4]
synonym: "congenital muscular dystrophy caused by mutation in LAMA2" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [DOID:0110636, Orphanet:258]
synonym: "congenital muscular dystrophy type 1A" RELATED [Orphanet:258]
synonym: "LAMA2 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LAMA2-related muscular dystrophy" RELATED [GARD:0003843]
synonym: "laminin alpha-2 deficiency" RELATED [GARD:0003843]
synonym: "MDC1A" EXACT [DOID:0110636, MONDO:Lexical, OMIM:607855, Orphanet:258]
synonym: "merosin-deficient congenital muscular dystrophy" RELATED [GARD:0003843]
synonym: "merosin-deficient congenital muscular dystrophy type 1A" EXACT [NCIT:C118783]
synonym: "merosin-negative congenital muscular dystrophy" EXACT [DOID:0110636, Orphanet:258]
synonym: "muscular dystrophy, congenital merosin-deficient" RELATED [OMIM:607855]
synonym: "muscular dystrophy, congenital merosin-deficient, 1A" RELATED [MONDO:Lexical, OMIM:607855]
synonym: "muscular dystrophy, congenital merosin-deficient, 1A; MDC1A" RELATED [OMIM:607855]
synonym: "muscular dystrophy, congenital merosin-deficient, type 1A" EXACT [MONDORULE:4, OMIM:607855]
synonym: "muscular dystrophy, congenital, due to partial LAMA2 deficiency" RELATED [OMIM:607855]
synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:0003843]
xref: DOID:0110636 {source="MONDO:equivalentTo"}
xref: EFO:0009138 {source="MONDO:equivalentTo"}
xref: GARD:0003843 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="Orphanet:258", source="DOID:0110636", source="ORDO:258/attributed", source="ORDO:258/ntbt"}
xref: NCIT:C118783 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="ORDO:258/e"}
xref: Orphanet:258 {source="OMIM:607855", source="DOID:0110636", source="MONDO:equivalentTo"}
xref: SCTID:111503008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C1263858 {source="Orphanet:258", source="NCIT:C118783", source="OMIM:607855", source="DOID:0110636", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:258/e"}
is_a: MONDO:0016149 {source="Orphanet:258"} ! qualitative or quantitative defects of merosin
is_a: MONDO:0019950 {source="DOID:0110636", source="MONDO:Redundant", source="MONDOLEX:0011925", source="Orphanet:258"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842898
property_value: exactMatch DOID:0110636
property_value: exactMatch http://identifiers.org/omim/607855
property_value: exactMatch http://identifiers.org/snomedct/111503008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263858
property_value: exactMatch NCIT:C118783
property_value: exactMatch Orphanet:258

[Term]
id: MONDO:0011926
name: PSORS9
synonym: "psoriasis 9, susceptibility to" RELATED [MONDO:Lexical, OMIM:607857]
synonym: "psoriasis 9, susceptibility to; PSORS9" RELATED [OMIM:607857]
synonym: "PSORS9" EXACT [MONDO:Lexical, OMIM:607857]
xref: OMIM:607857 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:607857", source="OMIM:607857"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842897
property_value: exactMatch http://identifiers.org/omim/607857

[Term]
id: MONDO:0011927
name: tufted angioma (disease)
def: "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." [Orphanet:1063]
subset: ordo_disease {source="Orphanet:1063"}
synonym: "angioblastoma of Nakagawa" EXACT [NCIT:C4487]
synonym: "angioma tufted" RELATED [GARD:0000425]
synonym: "angioma, tufted" RELATED [OMIM:607859]
synonym: "Nakagawa angioblastoma" EXACT [Orphanet:1063]
synonym: "tufted angioma" EXACT [MONDO:ambiguous, NCIT:C4487, OMIM:607859]
synonym: "tufted angioma of skin" EXACT [NCIT:C4487]
synonym: "tufted angioma of the skin" EXACT [NCIT:C4487]
synonym: "tufted hemangioma" EXACT [NCIT:C4487]
synonym: "tufted hemangioma of skin" EXACT [NCIT:C4487]
synonym: "tufted hemangioma of the skin" EXACT [NCIT:C4487]
synonym: "tufted skin angioma" EXACT [NCIT:C4487]
xref: GARD:0000425 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HP:0012329 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D18.0 {source="ORDO:1063/attributed", source="ORDO:1063/ntbt", source="Orphanet:1063"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9161/0 {source="NCIT:C4487"}
xref: MESH:C536924 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1063/e", source="Orphanet:1063"}
xref: NCIT:C4487 {source="MONDO:equivalentTo"}
xref: OMIM:607859 {source="MONDO:equivalentTo", source="ORDO:1063/e", source="Orphanet:1063"}
xref: Orphanet:1063 {source="MONDO:equivalentTo", source="OMIM:607859"}
xref: SCTID:705155008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0346073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4487", source="OMIM:607859", source="ORDO:1063/e", source="Orphanet:1063"}
is_a: MONDO:0003110 {source="MONDOLEX:0011927", source="NCIT:C4487"} ! skin hemangioma
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0018729 {source="Orphanet:1063"} ! genetic vascular tumor
property_value: exactMatch http://identifiers.org/mesh/C536924
property_value: exactMatch http://identifiers.org/omim/607859
property_value: exactMatch http://identifiers.org/snomedct/705155008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346073
property_value: exactMatch NCIT:C4487
property_value: exactMatch Orphanet:1063

[Term]
id: MONDO:0011928
name: caudal duplication
def: "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." [Orphanet:1756]
subset: gard_rare {source="GARD:0001164"}
subset: ordo_malformation_syndrome {source="Orphanet:1756"}
synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864]
synonym: "dipygus" EXACT [Orphanet:1756]
synonym: "split notochord syndrome" EXACT [Orphanet:1756]
xref: GARD:0001164 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1756/attributed", source="ORDO:1756/ntbt", source="Orphanet:1756"}
xref: MESH:C564315 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="ORDO:1756/e"}
xref: Orphanet:1756 {source="OMIM:607864", source="MONDO:equivalentTo"}
xref: SCTID:71464000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1842884 {source="OMIM:607864", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1756", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015246 {source="Orphanet:1756"} ! syndromic anorectal malformation
is_a: MONDO:0017120 {source="Orphanet:1756"} ! other syndrome with a central nervous system malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0544738
property_value: exactMatch http://identifiers.org/mesh/C564315
property_value: exactMatch http://identifiers.org/omim/607864
property_value: exactMatch http://identifiers.org/snomedct/71464000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842884
property_value: exactMatch Orphanet:1756
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication xsd:anyURI {source="GARD:0001164"}

[Term]
id: MONDO:0011929
name: chromosome 1p36 deletion syndrome
def: "1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." [Orphanet:1606]
subset: gard_rare {source="GARD:0006082"}
subset: ordo_malformation_syndrome {source="Orphanet:1606"}
synonym: "1p Telomere Deletion syndrome" EXACT [NCIT:C74983]
synonym: "1p36 deletion syndrome" EXACT [DOID:0060410]
synonym: "chromosome 1p36 deletion syndrome" EXACT [OMIM:607872]
synonym: "Del(1)(p36)" EXACT [Orphanet:1606]
synonym: "deletion 1p36" EXACT [DOID:0060410, Orphanet:1606]
synonym: "deletion 1pter" EXACT [Orphanet:1606]
synonym: "monosomy 1p36" EXACT [DOID:0060410, Orphanet:1606]
synonym: "monosomy 1P36 syndrome" RELATED [OMIM:607872]
synonym: "monosomy 1pter" EXACT [Orphanet:1606]
synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606]
xref: DOID:0060410 {source="MONDO:equivalentTo"}
xref: GARD:0006082 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:1606", source="ORDO:1606/attributed", source="ORDO:1606/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535362 {source="DOID:0060410", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C74983 {source="DOID:0060410", source="MONDO:equivalentTo"}
xref: OMIM:607872 {source="DOID:0060410", source="MONDO:equivalentTo", source="Orphanet:1606", source="ORDO:1606/e"}
xref: Orphanet:1606 {source="DOID:0060410", source="MONDO:equivalentTo", source="OMIM:607872"}
xref: SCTID:699306003 {source="DOID:0060410", source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: UMLS:C1842870 {source="DOID:0060410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607872", source="Orphanet:1606", source="ORDO:1606/e"}
is_a: MONDO:0000761 {source="DC-OMIM:607872", source="DOID:0060410"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015652 {source="Orphanet:1606", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016337 {source="Orphanet:1606"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0016883 {source="MONDOLEX:0011929", source="Orphanet:1606"} ! partial deletion of the short arm of chromosome 1
property_value: exactMatch DOID:0060410
property_value: exactMatch http://identifiers.org/mesh/C535362
property_value: exactMatch http://identifiers.org/omim/607872
property_value: exactMatch http://identifiers.org/snomedct/699306003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842870
property_value: exactMatch NCIT:C74983
property_value: exactMatch Orphanet:1606
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome xsd:anyURI {source="GARD:0006082"}

[Term]
id: MONDO:0011930
name: epilepsy, familial adult myoclonic, 2
def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADRA2B epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "benign adult familial myoclonic epilepsy 2" RELATED [OMIM:607876]
synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [OMIM:607876]
synonym: "cortical myoclonus and epilepsy, autosomal dominant" RELATED [OMIM:607876]
synonym: "epilepsy, familial adult myoclonic caused by mutation in ADRA2B" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial adult myoclonic, 2" EXACT [MONDO:Lexical, OMIM:607876]
synonym: "epilepsy, familial ADULT myoclonic, 2; FAME2" RELATED [OMIM:607876]
synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1, OMIM:607876]
synonym: "FAME2" RELATED [MONDO:Lexical, OMIM:607876]
xref: MESH:C564313 {source="MONDO:equivalentTo"}
xref: OMIM:607876 {source="MONDO:equivalentTo"}
xref: UMLS:C1842852 {source="OMIM:607876", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="DC-OMIM:607876", source="MONDO:Redundant", source="OMIM:607876"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C564313
property_value: exactMatch http://identifiers.org/omim/607876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842852

[Term]
id: MONDO:0011931
name: OVCAS1
subset: predisposition
synonym: "ovarian cancer, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:607893]
synonym: "ovarian cancer, susceptibility to, 1; OVCAS1" RELATED [OMIM:607893]
synonym: "OVCAS1" EXACT [MONDO:Lexical, OMIM:607893]
xref: OMIM:607893 {source="MONDO:equivalentTo"}
is_a: MONDO:0008170 {source="DC-OMIM:607893", source="MONDOLEX:0011931"} ! ovarian cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675601
property_value: exactMatch http://identifiers.org/omim/607893

[Term]
id: MONDO:0011932
name: hypotrichosis 6
def: "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703]
synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Htl" RELATED [OMIM:607903]
synonym: "hypotrichosis 6" EXACT [MONDO:Lexical, OMIM:607903]
synonym: "hypotrichosis 6; HYPT6" RELATED [OMIM:607903]
synonym: "hypotrichosis caused by mutation in DSG4" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 6" EXACT [DOID:0110703, MONDORULE:1, OMIM:607903]
synonym: "hypotrichosis, localized, autosomal recessive" RELATED [OMIM:607903]
synonym: "hypotrichosis, localized, autosomal recessive 1" EXACT [DOID:0110703, OMIM:607903]
synonym: "HYPT6" EXACT [DOID:0110703, MONDO:Lexical, OMIM:607903]
synonym: "Lah1" EXACT [DOID:0110703]
synonym: "monilethrix-like hypotrichosis" EXACT [DOID:0110703]
synonym: "monilethrix-like hypotrichosis" RELATED [OMIM:607903]
xref: DOID:0110703 {source="MONDO:equivalentTo"}
xref: MESH:C564312 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607903 {source="DOID:0110703", source="MONDO:equivalentTo"}
xref: UMLS:C1842839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607903"}
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
property_value: exactMatch DOID:0110703
property_value: exactMatch http://identifiers.org/mesh/C564312
property_value: exactMatch http://identifiers.org/omim/607903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842839

[Term]
id: MONDO:0011933
name: ALG2-CDG
def: "(9q31.1). Transmission is autosomal recessive." [Orphanet:79326]
subset: ordo_disease {source="Orphanet:79326"}
synonym: "ALG2-CDG (CDG-II)" RELATED [GARD:0009836]
synonym: "carbohydrate deficient glycoprotein syndrome type II" EXACT [Orphanet:79326]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1I" RELATED [GARD:0009836]
synonym: "CDG 1I" RELATED [GARD:0009836]
synonym: "CDG II" RELATED [OMIM:607906]
synonym: "CDG syndrome type II" EXACT [Orphanet:79326]
synonym: "CDG-II" EXACT [Orphanet:79326]
synonym: "CDG1I" EXACT [MONDO:Lexical, OMIM:607906, Orphanet:79326]
synonym: "congenital disorder of glycosylation type 1i" EXACT [Orphanet:79326]
synonym: "congenital disorder of glycosylation type II" EXACT [Orphanet:79326]
synonym: "congenital disorder of glycosylation, type II" RELATED [MONDO:Lexical, OMIM:607906]
synonym: "congenital disorder of glycosylation, type II; CDG1I" RELATED [OMIM:607906]
synonym: "mannosyltransferase 2 deficiency" EXACT [Orphanet:79326]
xref: GARD:0009836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79326", source="ORDO:79326/attributed", source="ORDO:79326/ntbt"}
xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="ORDO:79326/e"}
xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"}
is_a: MONDO:0005500 {source="DC-OMIM:607906", source="MONDOLEX:0011933"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79326"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79326"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:79326"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:79326"} ! congenital disorder of glycosylation with hepatic involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842836
property_value: exactMatch http://identifiers.org/omim/607906
property_value: exactMatch Orphanet:79326

[Term]
id: MONDO:0011934
name: dermatofibrosarcoma protuberans
def: "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." [Orphanet:31112]
subset: gard_rare {source="GARD:0009569"}
subset: ordo_disease {source="Orphanet:31112"}
synonym: "dermatofibrosarcoma" EXACT [NCIT:C4683]
synonym: "dermatofibrosarcoma protuberans" EXACT [MONDO:Lexical, OMIM:607907]
synonym: "dermatofibrosarcoma protuberans; DFSP" RELATED [OMIM:607907]
synonym: "DFSP" EXACT [MONDO:Lexical, OMIM:607907, Orphanet:31112]
synonym: "familial dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569]
synonym: "giant cell fibroblastoma" RELATED [OMIM:607907]
synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569]
xref: DOID:3507 {source="MONDO:equivalentTo"}
xref: GARD:0009569 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="Orphanet:31112", source="ORDO:31112/attributed", source="ORDO:31112/ntbt"}
xref: ICDO:8832/3 {source="NCIT:C4683"}
xref: MedDRA:10057070 {source="Orphanet:31112", source="ORDO:31112/e"}
xref: MESH:D018223 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:3507"}
xref: NCIT:C4683 {source="MONDO:equivalentTo"}
xref: OMIM:607907 {source="Orphanet:31112", source="MONDO:equivalentTo", source="ORDO:31112/e"}
xref: ONCOTREE:DFSP {source="MONDO:equivalentTo"}
xref: Orphanet:31112 {source="MONDO:equivalentTo", source="OMIM:607907"}
xref: SCTID:276799004 {source="MONDO:equivalentTo", source="DOID:3507", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0392784 {source="Orphanet:31112", source="NCIT:C4683", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607907", source="ORDO:31112/e"}
is_a: MONDO:0005164 {source="DOID:3507", source="MONDOLEX:0011934", source="linkedlifedata"} ! fibrosarcoma (disease)
is_a: MONDO:0006414 ! skin sarcoma
is_a: MONDO:0015950 {source="Orphanet:31112", source="indirect"} ! inherited skin tumor
is_a: MONDO:0017127 {source="MONDO:Redundant", source="Orphanet:31112"} ! inherited soft tissue tumor
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:31112"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://identifiers.org/snomedct/134160009
property_value: closeMatch http://identifiers.org/snomedct/302844005
property_value: closeMatch http://identifiers.org/snomedct/76594008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206647
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3693482
property_value: exactMatch DOID:3507
property_value: exactMatch http://identifiers.org/meddra/10057070
property_value: exactMatch http://identifiers.org/mesh/C538219
property_value: exactMatch http://identifiers.org/mesh/D018223
property_value: exactMatch http://identifiers.org/omim/607907
property_value: exactMatch http://identifiers.org/snomedct/276799004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392784
property_value: exactMatch NCIT:C4683
property_value: exactMatch Orphanet:31112
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans xsd:anyURI {source="GARD:0009569"}

[Term]
id: MONDO:0011935
name: retinitis pigmentosa 30
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FSCN2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular Degeneration" RELATED [OMIM:607921]
synonym: "retinitis pigmentosa 30" EXACT [MONDO:Lexical, OMIM:607921]
synonym: "retinitis pigmentosa 30; RP30" RELATED [OMIM:607921]
synonym: "retinitis pigmentosa caused by mutation in FSCN2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 30" EXACT [DOID:0110406, MONDORULE:2, OMIM:607921]
synonym: "RP 30" RELATED [GARD:0010401]
synonym: "RP30" EXACT [DOID:0110406, MONDO:Lexical, OMIM:607921]
xref: DOID:0110406 {source="MONDO:equivalentTo"}
xref: GARD:0010401 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110406"}
xref: OMIM:607921 {source="DOID:0110406", source="MONDO:equivalentTo"}
xref: UMLS:C1842816 {source="OMIM:607921", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:607921", source="DOID:0110406", source="MONDO:Redundant", source="OMIM:607921"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110406
property_value: exactMatch http://identifiers.org/omim/607921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842816

[Term]
id: MONDO:0011936
name: microphthalmia with brain and digit anomalies
def: "gene, which has already been shown to play a role in eye development." [Orphanet:139471]
subset: ordo_malformation_syndrome {source="Orphanet:139471"}
synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" RELATED [GARD:0003645]
synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [OMIM:607932]
synonym: "Bakrania-Ragge syndrome" EXACT [Orphanet:139471]
synonym: "MCOPS6" EXACT [MONDO:Lexical, OMIM:607932, Orphanet:139471]
synonym: "microphthalmia and pituitary anomalies" RELATED [OMIM:607932]
synonym: "microphthalmia syndromic 6" RELATED [GARD:0003645]
synonym: "microphthalmia with brain and digit developmental anomalies" RELATED [OMIM:607932]
synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932]
synonym: "microphthalmia, syndromic 6; MCOPS6" RELATED [OMIM:607932]
synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932]
synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471]
xref: GARD:0003645 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q11.2 {source="ORDO:139471/attributed", source="ORDO:139471/ntbt", source="Orphanet:139471"}
xref: MESH:C566440 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="ORDO:139471/e"}
xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"}
xref: SCTID:721878003 {source="MONDO:kboom-pr-1.00/0.80/9.48", source="MONDO:equivalentTo"}
xref: UMLS:C1864689 {source="OMIM:607932", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139471", source="MEDGEN:kboom-pr96-c96"}
xref: UMLS:C4303070 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016073 {source="DC-OMIM:607932", source="MONDOLEX:0011936", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C566440
property_value: exactMatch http://identifiers.org/omim/607932
property_value: exactMatch http://identifiers.org/snomedct/721878003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864689
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303070
property_value: exactMatch Orphanet:139471

[Term]
id: MONDO:0011937
name: peeling skin syndrome 4
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CSTA peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ichthyosis bullosa of Siemens-like" RELATED [OMIM:607936]
synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [OMIM:607936]
synonym: "peeling skin syndrome 4" EXACT [MONDO:Lexical, OMIM:607936]
synonym: "peeling skin syndrome 4; PSS4" RELATED [OMIM:607936]
synonym: "peeling skin syndrome caused by mutation in CSTA" EXACT [MONDO:design_pattern]
synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1, OMIM:607936]
synonym: "PSS4" RELATED [MONDO:Lexical, OMIM:607936]
xref: MESH:C564309 {source="MONDO:equivalentTo"}
xref: OMIM:607936 {source="MONDO:equivalentTo"}
xref: UMLS:C1842797 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607936"}
xref: UMLS:C4225407 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017339 {source="ORDO:289586/btnt"} ! exfoliative ichthyosis
is_a: MONDO:0019347 {source="DC-OMIM:607936", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome
property_value: exactMatch http://identifiers.org/mesh/C564309
property_value: exactMatch http://identifiers.org/omim/607936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842797
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225407

[Term]
id: MONDO:0011938
name: atrial heart septal defect 2
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD2" EXACT [DOID:0110107, MONDO:Lexical, OMIM:607941]
synonym: "atrial heart septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 2" EXACT [DOID:0110107, MONDORULE:1]
synonym: "atrial septal defect 2" EXACT [DOID:0110107, MONDO:Lexical, OMIM:607941]
synonym: "atrial septal defect 2; ASD2" RELATED [OMIM:607941]
synonym: "atrial septal defect type 2" EXACT [MONDORULE:1, OMIM:607941]
synonym: "GATA4 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110107 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110107"}
xref: MESH:C538263 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607941 {source="DOID:0110107", source="MONDO:equivalentTo"}
xref: UMLS:C1842778 {source="OMIM:607941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="DC-OMIM:607941", source="DOID:0110107", source="MESH:C538263", source="MONDO:Redundant", source="MONDOLEX:0011938", source="OMIM:607941"} ! atrial heart septal defect
property_value: exactMatch DOID:0110107
property_value: exactMatch http://identifiers.org/mesh/C538263
property_value: exactMatch http://identifiers.org/omim/607941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842778

[Term]
id: MONDO:0011939
name: Spondyloenchondrodysplasia with immune dysregulation
synonym: "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" RELATED [OMIM:607944]
synonym: "Roifman Immunoskeletal syndrome" RELATED [OMIM:607944]
synonym: "SPENCDI" RELATED [MONDO:Lexical, OMIM:607944]
synonym: "spondyloenchondrodysplasia with immune dysregulation" EXACT [MONDO:Lexical, OMIM:607944]
synonym: "spondyloenchondrodysplasia with immune dysregulation; SPENCDI" RELATED [OMIM:607944]
synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [Orphanet:50816]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564307 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607944 {source="MONDO:equivalentTo"}
xref: Orphanet:50816 {source="OMIM:607944", source="MONDO:equivalentTo"}
xref: SCTID:703523004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1842763 {source="OMIM:607944", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C564307/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564307
property_value: exactMatch http://identifiers.org/omim/607944
property_value: exactMatch http://identifiers.org/snomedct/703523004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842763
property_value: exactMatch Orphanet:50816

[Term]
id: MONDO:0011940
name: mycobacterium tuberculosis, susceptibility to
comment: Editor note: consider merge with parent. This OMIM ID seems to represent the whole series
subset: gard_rare
subset: predisposition
synonym: "Mycobacterium tuberculosis, protection against" RELATED [OMIM:607948]
synonym: "mycobacterium tuberculosis, susceptibility to" EXACT [OMIM:607948]
synonym: "Mycobacterium tuberculosis, susceptibility to infection by" RELATED [GARD:0002456]
xref: GARD:0002456 {source="MONDO:equivalentTo"}
xref: MESH:C536092 {source="MONDO:equivalentTo"}
xref: OMIM:607948 {source="GARD:0002456", source="MONDO:equivalentTo"}
is_a: MONDO:0000070 {source="DC-OMIM:607948", source="MONDOLEX:0011940"} ! mycobacterium tuberculosis, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834752
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969665
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936833
property_value: exactMatch http://identifiers.org/mesh/C536092
property_value: exactMatch http://identifiers.org/omim/607948

[Term]
id: MONDO:0011941
name: mycobacterium tuberculosis, susceptibility to, 1
subset: predisposition
synonym: "MTBS1" RELATED [OMIM:607949]
synonym: "mycobacterium tuberculosis, susceptibility to, 1" EXACT [OMIM:607949]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607949]
xref: OMIM:607949 {source="MONDO:equivalentTo"}
is_a: MONDO:0000070 {source="DC-OMIM:607949", source="MONDOLEX:0011941"} ! mycobacterium tuberculosis, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842762
property_value: exactMatch http://identifiers.org/omim/607949

[Term]
id: MONDO:0011942
name: systemic lupus erythematosus with nephritis, susceptibility to, 1
subset: predisposition
synonym: "SLEN1" EXACT [MONDO:Lexical, OMIM:607965]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607965]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 1; SLEN1" EXACT [OMIM:607965]
xref: OMIM:607965 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842757
property_value: exactMatch http://identifiers.org/omim/607965

[Term]
id: MONDO:0011943
name: systemic lupus erythematosus with nephritis, susceptibility to, 2
subset: predisposition
synonym: "SLEN2" EXACT [MONDO:Lexical, OMIM:607966]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607966]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 2; SLEN2" EXACT [OMIM:607966]
xref: OMIM:607966 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842756
property_value: exactMatch http://identifiers.org/omim/607966

[Term]
id: MONDO:0011944
name: systemic lupus erythematosus with nephritis, susceptibility to, 3
subset: predisposition
synonym: "SLEN3" EXACT [MONDO:Lexical, OMIM:607967]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:607967]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 3; SLEN3" EXACT [OMIM:607967]
xref: OMIM:607967 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842755
property_value: exactMatch http://identifiers.org/omim/607967

[Term]
id: MONDO:0011945
name: Gaucher disease perinatal lethal
def: "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." [Orphanet:85212]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:85212"}
synonym: "fetal Gaucher disease" EXACT [DOID:0110960]
synonym: "Gaucher disease collodion type" EXACT [GARD:0010675]
synonym: "Gaucher disease perinatal lethal" EXACT [GARD:0010675]
synonym: "Gaucher disease, collodion type" EXACT [DOID:0110960, OMIM:608013]
synonym: "Gaucher disease, perinatal lethal" EXACT [OMIM:608013]
synonym: "Gaucher disease, perinatal-lethal form" EXACT [GARD:0010675]
synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212]
xref: DOID:0110960 {source="MONDO:equivalentTo"}
xref: GARD:0010675 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:85212", source="ORDO:85212/attributed", source="ORDO:85212/ntbt", source="DOID:0110960"}
xref: MESH:C564306 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="ORDO:85212/e", source="DOID:0110960"}
xref: Orphanet:85212 {source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013", source="DOID:0110960"}
xref: UMLS:C1842704 {source="Orphanet:85212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017273 {source="Orphanet:85212"} ! autosomal ichthyosis syndrome with fatal disease course
is_a: MONDO:0018150 {source="DC-OMIM:608013", source="DOID:0110960", source="MESH:C564306", source="MONDOLEX:0011945", source="Orphanet:85212"} ! Gaucher disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0110960
property_value: exactMatch http://identifiers.org/mesh/C564306
property_value: exactMatch http://identifiers.org/omim/608013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842704
property_value: exactMatch Orphanet:85212
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal xsd:anyURI {source="GARD:0010675"}

[Term]
id: MONDO:0011946
name: diaphanospondylodysostosis
def: "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." [Orphanet:66637]
subset: ordo_malformation_syndrome {source="Orphanet:66637"}
synonym: "diaphanospondylodysostosis" EXACT [OMIM:608022]
synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022]
xref: ICD10:Q78.8 {source="Orphanet:66637", source="ORDO:66637/attributed", source="ORDO:66637/ntbt"}
xref: MESH:C564305 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608022 {source="ORDO:66637/e", source="MONDO:equivalentTo", source="Orphanet:66637"}
xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"}
xref: SCTID:721094006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1842691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:66637", source="OMIM:608022"}
is_a: MONDO:0019694 {source="Orphanet:66637"} ! spondylodysplastic dysplasia
is_a: MONDO:0019711 {source="Orphanet:66637"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/mesh/C564305
property_value: exactMatch http://identifiers.org/omim/608022
property_value: exactMatch http://identifiers.org/snomedct/721094006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842691
property_value: exactMatch Orphanet:66637

[Term]
id: MONDO:0011947
name: HNP1
synonym: "HNP1" EXACT [MONDO:Lexical, OMIM:608026]
synonym: "hypertensive nephropathy" EXACT [MONDO:Lexical, OMIM:608026]
synonym: "hypertensive nephropathy; HNP1" EXACT [OMIM:608026]
xref: MESH:C563161 {source="MONDO:equivalentTo"}
xref: OMIM:608026 {source="MONDO:equivalentTo"}
xref: UMLS:C0848548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608026"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563161
property_value: exactMatch http://identifiers.org/omim/608026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0848548

[Term]
id: MONDO:0011948
name: pontocerebellar hypoplasia type 3
def: "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." [Orphanet:97249]
subset: gard_rare {source="GARD:0010708"}
subset: ordo_malformation_syndrome {source="Orphanet:97249"}
synonym: "cerebellar atrophy with progressive microcephaly" EXACT [OMIM:608027, Orphanet:97249]
synonym: "clam" EXACT [Orphanet:97249]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO" EXACT [MONDO:design_pattern]
synonym: "PCH with optic atrophy" EXACT [Orphanet:97249]
synonym: "Pch with optic atrophy" RELATED [OMIM:608027]
synonym: "PCH without dyskinesia" EXACT [Orphanet:97249]
synonym: "PCH3" EXACT [MONDO:Lexical, OMIM:608027, Orphanet:97249]
synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027]
synonym: "pontocerebellar hypoplasia, type 3; PCH3" RELATED [OMIM:608027]
xref: DOID:0060272 {source="MONDO:equivalentTo"}
xref: GARD:0010708 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:97249", source="ORDO:97249/attributed", source="ORDO:97249/ntbt"}
xref: MESH:C548072 {source="ORDO:97249/e", source="Orphanet:97249", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060272"}
xref: OMIM:608027 {source="ORDO:97249/e", source="Orphanet:97249", source="MONDO:equivalentTo", source="DOID:0060272"}
xref: Orphanet:97249 {source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"}
xref: SCTID:718609003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.13"}
xref: UMLS:C1842687 {source="MEDGEN:kboom-pr98-c99", source="ORDO:97249/e", source="Orphanet:97249", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"}
is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="MONDO:Redundant", source="OMIM:608027", source="Orphanet:97249", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060272
property_value: exactMatch http://identifiers.org/mesh/C548072
property_value: exactMatch http://identifiers.org/omim/608027
property_value: exactMatch http://identifiers.org/snomedct/718609003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842687
property_value: exactMatch Orphanet:97249
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 xsd:anyURI {source="GARD:0010708"}

[Term]
id: MONDO:0011949
name: Thai symphalangism syndrome
subset: gard_rare {source="GARD:0003557"}
synonym: "Thai symphalangism syndrome" EXACT [OMIM:608028]
xref: GARD:0003557 {source="MONDO:equivalentTo"}
xref: MESH:C564303 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608028 {source="MONDO:equivalentTo"}
xref: UMLS:C1842679 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608028"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564303
property_value: exactMatch http://identifiers.org/omim/608028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome xsd:anyURI {source="GARD:0003557"}

[Term]
id: MONDO:0011950
name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia
subset: ordo_disease {source="Orphanet:284332"}
synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [Orphanet:284332]
synonym: "cerebellar ataxia infantile nonprogressive autosomal recessive" RELATED [GARD:0004954]
synonym: "cerebellar ataxia, infantile nonprogressive, autosomal recessive" RELATED [OMIM:608029]
synonym: "Norwegian infantile onset ataxia" RELATED [OMIM:608029]
synonym: "SCAR6" EXACT [MONDO:Lexical, OMIM:608029, Orphanet:284332]
synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954]
synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029]
synonym: "spinocerebellar ataxia, autosomal recessive 6; SCAR6" RELATED [OMIM:608029]
xref: GARD:0004954 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.0 {source="ORDO:284332/attributed", source="ORDO:284332/ntbt", source="Orphanet:284332"}
xref: MESH:C537312 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608029 {source="ORDO:284332/e", source="MONDO:equivalentTo", source="Orphanet:284332"}
xref: Orphanet:284332 {source="OMIM:608029", source="MONDO:equivalentTo"}
xref: UMLS:C1842676 {source="OMIM:608029", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:284332"}
is_a: MONDO:0015244 {source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C537312
property_value: exactMatch http://identifiers.org/omim/608029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842676
property_value: exactMatch Orphanet:284332

[Term]
id: MONDO:0011951
name: amyotrophic lateral sclerosis type 6
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009874"}
synonym: "ALS6" EXACT [DOID:0060198, MONDO:Lexical, OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia; ALS6" RELATED [OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198, OMIM:608030]
synonym: "amyotrophic lateral sclerosis caused by mutation in FUS" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198, OMIM:608030]
synonym: "FUS amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060198 {source="MONDO:equivalentTo"}
xref: GARD:0009874 {source="MONDO:equivalentTo"}
xref: MESH:C567699 {source="MONDO:equivalentTo"}
xref: OMIM:608030 {source="DOID:0060198", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 ! FTDALS
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842675
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750729
property_value: exactMatch DOID:0060198
property_value: exactMatch http://identifiers.org/mesh/C567699
property_value: exactMatch http://identifiers.org/omim/608030
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6 xsd:anyURI {source="GARD:0009874"}

[Term]
id: MONDO:0011952
name: amyotrophic lateral sclerosis type 7
subset: gard_rare {source="GARD:0010500"}
synonym: "ALS7" EXACT [DOID:0060199, MONDO:Lexical, OMIM:608031]
synonym: "amyotrophic lateral sclerosis 7" EXACT [DOID:0060199, MONDO:Lexical, OMIM:608031]
synonym: "amyotrophic lateral sclerosis 7; ALS7" RELATED [OMIM:608031]
xref: DOID:0060199 {source="MONDO:equivalentTo"}
xref: GARD:0010500 {source="MONDO:equivalentTo"}
xref: MESH:C564300 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608031 {source="DOID:0060199", source="MONDO:equivalentTo"}
xref: UMLS:C1842674 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608031"}
is_a: MONDO:0004976 {source="DC-OMIM:608031", source="DOID:0060199", source="MESH:C564300", source="MONDOLEX:0011952", source="OMIM:608031"} ! amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060199
property_value: exactMatch http://identifiers.org/mesh/C564300
property_value: exactMatch http://identifiers.org/omim/608031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842674
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7 xsd:anyURI {source="GARD:0010500"}

[Term]
id: MONDO:0011953
name: familial acute necrotizing encephalopathy
def: "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen." [Orphanet:88619]
subset: ordo_disease {source="Orphanet:88619"}
subset: predisposition
synonym: "acute necrotizing encephalopathy type 1" RELATED [GARD:0013232]
synonym: "ADANE" EXACT [Orphanet:88619]
synonym: "ANE1" RELATED [GARD:0013232]
synonym: "autosomal dominant acute necrotizing encephalopathy" RELATED [GARD:0013232]
synonym: "encephalopathy, acute necrotizing, susceptibility to" RELATED [OMIM:608033]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608033]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3; IIAE3" RELATED [OMIM:608033]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608033]
synonym: "IIAE3" RELATED [MONDO:Lexical, OMIM:608033]
synonym: "infection-induced acute encephalopathy 3" RELATED [GARD:0013232]
synonym: "Postinfectious acute necrotizing hemorrhagic encephalopathy" RELATED [GARD:0013232]
synonym: "recurrent acute necrotizing encephalopathy" EXACT [Orphanet:88619]
synonym: "susceptibility to acute infection-induced encephalopathy-3" RELATED [GARD:0013232]
synonym: "susceptibility to acute necrotizing encephalopathy" RELATED [GARD:0013232]
synonym: "susceptibility to infection-induced acute encephalopathy 3" RELATED [GARD:0013232]
xref: GARD:0013232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:608033 {source="MONDO:equivalentTo", source="ORDO:88619/e", source="Orphanet:88619"}
xref: Orphanet:88619 {source="MONDO:equivalentTo", source="OMIM:608033"}
xref: SCTID:723359002 {source="MONDO:equivalentTo"}
xref: UMLS:C4509836 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="DC-OMIM:608033", source="MONDOLEX:0011953", source="OMIM:608033"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0019117 {source="Orphanet:88619"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675556
property_value: exactMatch http://identifiers.org/omim/608033
property_value: exactMatch http://identifiers.org/snomedct/723359002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509836
property_value: exactMatch Orphanet:88619

[Term]
id: MONDO:0011954
name: CMM4
subset: predisposition
synonym: "CMM4" EXACT [MONDO:Lexical, OMIM:608035]
synonym: "melanoma, cutaneous malignant, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:608035]
synonym: "melanoma, cutaneous malignant, susceptibility to, 4; CMM4" RELATED [OMIM:608035]
xref: OMIM:608035 {source="MONDO:equivalentTo"}
is_a: MONDO:0024462 {source="OMIM", source="OMIM:608035"} ! familial cutaneous melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842643
property_value: exactMatch http://identifiers.org/omim/608035

[Term]
id: MONDO:0011955
name: diabetes mellitus, noninsulin-dependent, 4
synonym: "diabetes mellitus, noninsulin-dependent, 4" EXACT [OMIM:608036]
synonym: "diabetes mellitus, noninsulin-dependent, type 4" EXACT [MONDORULE:1, OMIM:608036]
synonym: "Niddm4" RELATED [OMIM:608036]
synonym: "noninsulin-dependent diabetes mellitus 4" RELATED [OMIM:608036]
xref: MESH:C564299 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608036 {source="MONDO:equivalentTo"}
xref: UMLS:C1842642 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608036"}
is_a: MONDO:0005148 {source="DC-OMIM:608036", source="MESH:C564299", source="MONDOLEX:0011955"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C564299
property_value: exactMatch http://identifiers.org/omim/608036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842642

[Term]
id: MONDO:0011956
name: AUTS3
subset: predisposition
synonym: "autism, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608049]
synonym: "autism, susceptibility to, 3; AUTS3" RELATED [OMIM:608049]
synonym: "AUTS3" EXACT [MONDO:Lexical, OMIM:608049]
xref: OMIM:608049 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:608049", source="MONDOLEX:0011956", source="OMIM:608049"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842632
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/608049

[Term]
id: MONDO:0011957
name: retinal macular dystrophy type 2
def: "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." [Orphanet:319640]
subset: ordo_disease {source="Orphanet:319640"}
synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051]
synonym: "macular dystrophy, retinal, 2; MCDR2" RELATED [OMIM:608051]
synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051]
synonym: "MCDR2" EXACT [MONDO:Lexical, OMIM:608051, Orphanet:319640]
xref: ICD10:H35.5 {source="ORDO:319640/attributed", source="ORDO:319640/ntbt", source="MONDO:relatedTo", source="Orphanet:319640"}
xref: MESH:C562746 {source="MONDO:equivalentTo"}
xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="ORDO:319640/e"}
xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="Orphanet:319640"} ! genetic macular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339512
property_value: exactMatch http://identifiers.org/mesh/C562746
property_value: exactMatch http://identifiers.org/omim/608051
property_value: exactMatch Orphanet:319640

[Term]
id: MONDO:0011958
name: bile and pancreatic ducts, complete absence of
synonym: "bile and pancreatic ducts, complete absence of" EXACT [OMIM:608063]
xref: MESH:C564298 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608063 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842614
property_value: exactMatch http://identifiers.org/mesh/C564298
property_value: exactMatch http://identifiers.org/omim/608063

[Term]
id: MONDO:0011959
name: sweet syndrome
def: "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." [Orphanet:3243]
subset: ordo_disease {source="Orphanet:3243"}
synonym: "acute febrile neutrophilic dermatosis" EXACT [Orphanet:3243]
synonym: "Afnd" RELATED [OMIM:608068]
synonym: "Gomm button disease" RELATED [GARD:0000521]
synonym: "Gomm-button disease" RELATED [OMIM:608068]
synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068]
synonym: "sweet syndrome" EXACT [OMIM:608068]
xref: GARD:0000521 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:L98.2 {source="Orphanet:3243", source="ORDO:3243/e"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10000748 {source="Orphanet:3243", source="ORDO:3243/e"}
xref: MESH:D016463 {source="Orphanet:3243", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:3243/e"}
xref: NCIT:C85177 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:608068 {source="Orphanet:3243", source="MONDO:equivalentTo", source="ORDO:3243/e"}
xref: Orphanet:3243 {source="MONDO:equivalentTo", source="OMIM:608068"}
xref: SCTID:84625002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0085077 {source="Orphanet:3243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608068", source="NCIT:C85177", source="ORDO:3243/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0011959", source="NCIT:C85177"} ! syndromic disease
is_a: MONDO:0005554 {source="Orphanet:3243"} ! rheumatologic disorder
is_a: MONDO:0019546 {source="Orphanet:3243"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/meddra/10000748
property_value: exactMatch http://identifiers.org/mesh/D016463
property_value: exactMatch http://identifiers.org/omim/608068
property_value: exactMatch http://identifiers.org/snomedct/84625002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085077
property_value: exactMatch NCIT:C85177
property_value: exactMatch Orphanet:3243

[Term]
id: MONDO:0011960
name: schizophrenia 11
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3." [DOID:0070087]
synonym: "schizophrenia 11" EXACT [OMIM:608078]
synonym: "schizophrenia susceptibility locus, chromosome 10Q-related" RELATED [OMIM:608078]
synonym: "schizophrenia type 11" EXACT [MONDORULE:2, OMIM:608078]
synonym: "SCZD11" EXACT [DOID:0070087]
synonym: "Sczd11" RELATED [OMIM:608078]
xref: DOID:0070087 {source="MONDO:equivalentTo"}
xref: OMIM:608078 {source="DOID:0070087", source="MONDO:equivalentTo"}
xref: UMLS:C1842605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608078"}
is_a: MONDO:0005090 {source="DC-OMIM:608078", source="DOID:0070087"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070087
property_value: exactMatch http://identifiers.org/omim/608078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842605

[Term]
id: MONDO:0011961
name: hereditary sensory and autonomic neuropathy type 1B
def: "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." [Orphanet:139564]
subset: ordo_disease {source="Orphanet:139564"}
synonym: "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" EXACT [Orphanet:139564]
synonym: "hereditary sensory and autonomic neuropathy type IB" EXACT [Orphanet:139564]
synonym: "hereditary sensory neuropathy type 1B" RELATED [DOID:0070148]
synonym: "hereditary sensory neuropathy type IB" EXACT [DOID:0070148]
synonym: "HSAN with cough and gastroesophageal reflux" EXACT [DOID:0070148, Orphanet:139564]
synonym: "HSAN1B" EXACT [Orphanet:139564]
synonym: "neuropathy, hereditary sensory and autonomic, type 1B" RELATED [OMIM:608088]
synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux" RELATED [OMIM:608088]
synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088]
xref: DOID:0070148 {source="MONDO:equivalentTo"}
xref: ICD10:G60.8 {source="ORDO:139564/attributed", source="ORDO:139564/ntbt", source="Orphanet:139564"}
xref: MESH:C564296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608088 {source="DOID:0070148", source="MONDO:equivalentTo", source="ORDO:139564/e", source="Orphanet:139564"}
xref: Orphanet:139564 {source="DOID:0070148", source="MONDO:equivalentTo", source="OMIM:608088"}
xref: PMID:12870133 {source="DOID:0070148"}
xref: PMID:16311270 {source="DOID:0070148"}
xref: SCTID:717825008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1842586 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="DOID:0070148", source="MONDO:equivalentTo", source="OMIM:608088", source="Orphanet:139564"}
xref: UMLS:C4303567 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018213 {source="MONDO:cjm", source="linkedlifedata"} ! hereditary sensory and autonomic neuropathy type 1
property_value: exactMatch DOID:0070148
property_value: exactMatch http://identifiers.org/mesh/C564296
property_value: exactMatch http://identifiers.org/omim/608088
property_value: exactMatch http://identifiers.org/snomedct/717825008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303567
property_value: exactMatch Orphanet:139564

[Term]
id: MONDO:0011962
name: endometrial cancer
def: "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." [NCIT:C27815]
synonym: "cancer of endometrium" EXACT [MONDO:patterns/cancer]
synonym: "endometrial Ca" EXACT [DOID:1380]
synonym: "endometrial cancer" EXACT [OMIM:608089]
synonym: "endometrial neoplasm" BROAD [DOID:1380]
synonym: "endometrium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endometrial neoplasm" EXACT [DOID:1380, NCIT:C27815]
synonym: "malignant endometrium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/cancer]
synonym: "neoplasm of endometrium" BROAD [DOID:1380]
synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380]
synonym: "tumor of endometrium" BROAD [DOID:1380, NCIT:C3012]
xref: DOID:1380 {source="MONDO:equivalentTo"}
xref: EFO:0004230 {source="MONDO:equivalentTo", source="DOID:1380"}
xref: GARD:0011981 {source="MONDO:equivalentTo"}
xref: ICD10:C54.1 {source="DOID:1380"}
xref: KEGG:05213 {source="MONDO:equivalentTo", source="DOID:1380"}
xref: NCIT:C27815 {source="MONDO:equivalentTo", source="DOID:1380"}
xref: OMIM:608089 {source="MONDO:equivalentTo", source="DOID:1380"}
is_a: MONDO:0002715 {source="DOID:1380", source="MONDO:Redundant", source="NCIT:C27815/inferred"} ! uterine cancer
is_a: MONDO:0021251 {source="MONDO:Redundant", source="NCIT:C27815"} ! endometrium neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007103
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014170
property_value: exactMatch DOID:1380
property_value: exactMatch http://identifiers.org/omim/608089
property_value: exactMatch NCIT:C27815

[Term]
id: MONDO:0011963
name: Joubert syndrome 2
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010167"}
synonym: "Cerebellooculorenal syndrome 2" RELATED [OMIM:608091]
synonym: "cerebellooculorenal syndrome 2" EXACT [DOID:0110988]
synonym: "CORS2" EXACT [DOID:0110988]
synonym: "JBTS2" EXACT [DOID:0110988, MONDO:Lexical, OMIM:608091]
synonym: "Joubert syndrome 2" EXACT [MONDO:Lexical, OMIM:608091]
synonym: "Joubert syndrome 2; JBTS2" RELATED [OMIM:608091]
synonym: "Joubert syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 2" EXACT [DOID:0110988, MONDORULE:1, OMIM:608091]
synonym: "TMEM216 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110988 {source="MONDO:equivalentTo"}
xref: GARD:0010167 {source="MONDO:equivalentTo"}
xref: MESH:C536294 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608091 {source="DOID:0110988", source="MONDO:equivalentTo"}
xref: UMLS:C1842577 {source="OMIM:608091", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:608091", source="DOID:0110988", source="MONDO:Redundant", source="OMIM:608091"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110988
property_value: exactMatch http://identifiers.org/mesh/C536294
property_value: exactMatch http://identifiers.org/omim/608091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842577
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 xsd:anyURI {source="GARD:0010167"}

[Term]
id: MONDO:0011964
name: DPAGT1-CDG
def: "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." [Orphanet:86309]
subset: ordo_disease {source="Orphanet:86309"}
synonym: "carbohydrate deficient glycoprotein syndrome type Ij" EXACT [Orphanet:86309]
synonym: "CDG 1J" RELATED [GARD:0009837]
synonym: "CDG Ij" RELATED [OMIM:608093]
synonym: "CDG syndrome type Ij" EXACT [Orphanet:86309]
synonym: "CDG-Ij" EXACT [Orphanet:86309]
synonym: "CDG1J" EXACT [MONDO:Lexical, OMIM:608093, Orphanet:86309]
synonym: "CDGIj" EXACT [NCIT:C126874]
synonym: "congenital disorder of glycosylation type 1j" EXACT [Orphanet:86309]
synonym: "congenital disorder of glycosylation type Ij" EXACT [Orphanet:86309]
synonym: "congenital disorder of glycosylation, type Ij" RELATED [MONDO:Lexical, OMIM:608093]
synonym: "congenital disorder of glycosylation, type Ij; CDG1J" RELATED [OMIM:608093]
synonym: "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" EXACT [Orphanet:86309]
synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837]
xref: GARD:0009837 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:86309/attributed", source="ORDO:86309/ntbt", source="Orphanet:86309"}
xref: MESH:C535748 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126874 {source="MONDO:kboom-pr-1.00/0.91/29.28", source="MONDO:equivalentTo"}
xref: OMIM:608093 {source="MONDO:equivalentTo", source="ORDO:86309/e", source="Orphanet:86309"}
xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"}
xref: SCTID:725079003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931004 {source="MEDGEN:kboom-pr98-c99", source="OMIM:608093", source="MONDO:equivalentTo", source="NCIT:C126874", source="Orphanet:86309"}
is_a: MONDO:0005500 {source="DC-OMIM:608093", source="MONDOLEX:0011964"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:86309"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:86309"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842572
property_value: exactMatch http://identifiers.org/mesh/C535748
property_value: exactMatch http://identifiers.org/omim/608093
property_value: exactMatch http://identifiers.org/snomedct/725079003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931004
property_value: exactMatch NCIT:C126874
property_value: exactMatch Orphanet:86309

[Term]
id: MONDO:0011965
name: familial temporal lobe epilepsy 2
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3." [DOID:0060755, PMID:12011300, PMID:15342703]
subset: ordo_disease {source="Orphanet:98819"}
synonym: "epilepsy, familial temporal lobe" RELATED [GARD:0005135]
synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical, OMIM:608096]
synonym: "epilepsy, familial temporal lobe, 2; ETL2" RELATED [OMIM:608096]
synonym: "ETL2" EXACT [DOID:0060755, MONDO:Lexical, OMIM:608096]
synonym: "familial temporal lobe epilepsy" RELATED [Orphanet:98819]
synonym: "familial temporal lobe epilepsy type 2" EXACT [DOID:0060755, MONDORULE:1]
synonym: "Ftle" RELATED [OMIM:608096]
synonym: "temporal epilepsy, familial" RELATED [GARD:0005135]
xref: DOID:0060755 {source="MONDO:equivalentTo"}
xref: GARD:0005135 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.2 {source="ORDO:98819/attributed", source="ORDO:98819/ntbt", source="Orphanet:98819"}
xref: MESH:C536956 {source="MONDO:equivalentTo", source="ORDO:98819/e", source="Orphanet:98819"}
xref: OMIM:608096 {source="MONDO:equivalentTo", source="DOID:0060755", source="ORDO:98819/e", source="Orphanet:98819"}
xref: Orphanet:98819 {source="MONDO:equivalentTo", source="OMIM:608096", source="DOID:0060755"}
is_a: MONDO:0005115 {source="DC-OMIM:608096", source="DOID:0060755", source="MESH:C536956", source="OMIM:608096"} ! temporal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:98819"} ! familial partial epilepsy
property_value: exactMatch DOID:0060755
property_value: exactMatch http://identifiers.org/mesh/C536956
property_value: exactMatch http://identifiers.org/omim/608096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842564
property_value: exactMatch Orphanet:98819

[Term]
id: MONDO:0011966
name: periventricular heterotopia with microcephaly, autosomal recessive
synonym: "ARPHM" RELATED [MONDO:Lexical, OMIM:608097]
synonym: "heterotopia, periventricular, autosomal recessive" RELATED [OMIM:608097]
synonym: "periventricular heterotopia with microcephaly, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608097]
synonym: "periventricular heterotopia with microcephaly, autosomal recessive; ARPHM" RELATED [OMIM:608097]
synonym: "periventricular nodular heterotopia 2" RELATED [OMIM:608097]
xref: MESH:C564292 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608097 {source="MONDO:equivalentTo"}
xref: UMLS:C1842563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608097"}
is_a: MONDO:0020341 {source="DC-OMIM:608097", source="MESH:C564292", source="MONDOLEX:0011966"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/mesh/C564292
property_value: exactMatch http://identifiers.org/omim/608097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842563

[Term]
id: MONDO:0011967
name: heterotopia, periventricular, associated with chromosome 5P anomalies
synonym: "heterotopia, periventricular, associated with chromosome 5P anomalies" EXACT [OMIM:608098]
synonym: "periventricular nodular heterotopia 3" RELATED [OMIM:608098]
xref: MESH:C564291 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608098 {source="MONDO:equivalentTo"}
xref: UMLS:C1842562 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608098"}
is_a: MONDO:0020341 {source="DC-OMIM:608098", source="MESH:C564291", source="MONDOLEX:0011967"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/mesh/C564291
property_value: exactMatch http://identifiers.org/omim/608098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842562

[Term]
id: MONDO:0011968
name: autosomal recessive limb-girdle muscular dystrophy type 2D
def: "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." [Orphanet:62]
subset: ordo_disease {source="Orphanet:62"}
synonym: "Adhalinopathy, primary" RELATED [OMIM:608099]
synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" EXACT [MONDO:design_pattern]
synonym: "DMDA2" EXACT [DOID:0110278]
synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [DOID:0110278]
synonym: "Duchenne-like autosomal recessive muscular dystrophy, type 2" RELATED [OMIM:608099]
synonym: "LGMD2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099, Orphanet:62]
synonym: "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" EXACT [Orphanet:62]
synonym: "limb-girdle muscular dystrophy type 2D" EXACT [NCIT:C142081]
synonym: "limb-girdle muscular dystrophy, type 2D" RELATED [GARD:0000438]
synonym: "muscular dystrophy limb-girdle with alpha-sarcoglycan" RELATED [GARD:0000438]
synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099]
synonym: "muscular dystrophy, limb-girdle, type 2D; LGMD2D" RELATED [OMIM:608099]
synonym: "primary adhalinopathy" EXACT [DOID:0110278]
synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110278 {source="MONDO:equivalentTo"}
xref: GARD:0000438 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:62/inclusion", source="DOID:0110278", source="ORDO:62/ntbt", source="Orphanet:62"}
xref: NCIT:C142081 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:608099 {source="MONDO:equivalentTo", source="ORDO:62/e", source="DOID:0110278", source="Orphanet:62"}
xref: Orphanet:62 {source="MONDO:equivalentTo", source="OMIM:608099", source="DOID:0110278"}
xref: SCTID:715340002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0015152 {source="DOID:0110278", source="MONDO:Redundant", source="MONDOLEX:0011968", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016141 {source="MONDOLEX:0011968", source="Orphanet:62"} ! qualitative or quantitative defects of alpha-sarcoglycan
is_a: MONDO:0016334 {source="Orphanet:62"} ! neuromuscular disease with dilated cardiomyopathy
property_value: exactMatch DOID:0110278
property_value: exactMatch http://identifiers.org/omim/608099
property_value: exactMatch http://identifiers.org/snomedct/715340002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936332
property_value: exactMatch NCIT:C142081
property_value: exactMatch Orphanet:62

[Term]
id: MONDO:0011969
name: ALG8-CDG
def: "(11q14.1), resulting in a block in the initial step of protein glycosylation." [Orphanet:79325]
subset: ordo_disease {source="Orphanet:79325"}
synonym: "ALG8-CDG (CDG-Ih)" RELATED [GARD:0009834]
synonym: "carbohydrate deficient glycoprotein syndrome type Ih" EXACT [Orphanet:79325]
synonym: "CDG 1H" RELATED [GARD:0009834]
synonym: "CDG Ih" RELATED [OMIM:608104]
synonym: "CDG syndrome type Ih" EXACT [Orphanet:79325]
synonym: "CDG-Ih" EXACT [Orphanet:79325]
synonym: "CDG1H" EXACT [MONDO:Lexical, OMIM:608104, Orphanet:79325]
synonym: "congenital disorder of glycosylation type 1h" EXACT [Orphanet:79325]
synonym: "congenital disorder of glycosylation type Ih" EXACT [Orphanet:79325]
synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, OMIM:608104]
synonym: "congenital disorder of glycosylation, type Ih; CDG1H" RELATED [OMIM:608104]
synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325]
xref: GARD:0009834 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79325", source="ORDO:79325/attributed", source="ORDO:79325/ntbt"}
xref: MESH:C535746 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="ORDO:79325/e"}
xref: Orphanet:79325 {source="MONDO:equivalentTo", source="OMIM:608104"}
xref: SCTID:720977000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.83"}
xref: UMLS:C2931002 {source="Orphanet:79325", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:608104"}
is_a: MONDO:0005500 {source="DC-OMIM:608104", source="MONDOLEX:0011969"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79325"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018288 {source="Orphanet:79325"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018291 {source="Orphanet:79325"} ! congenital disorder of glycosylation with intestinal involvement
is_a: MONDO:0018294 {source="Orphanet:79325"} ! congenital disorder of glycosylation with nephropathy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842539
property_value: exactMatch http://identifiers.org/mesh/C535746
property_value: exactMatch http://identifiers.org/omim/608104
property_value: exactMatch http://identifiers.org/snomedct/720977000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931002
property_value: exactMatch Orphanet:79325

[Term]
id: MONDO:0011970
name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
subset: ordo_disease {source="Orphanet:163727"}
synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical, OMIM:608105]
synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp; EPRPDC" RELATED [OMIM:608105]
synonym: "EPRPDC" RELATED [MONDO:Lexical, OMIM:608105]
synonym: "Re-ped-Wc" RELATED [OMIM:608105]
xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="ORDO:163727/e"}
xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="ORDO:163727/e"}
xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"}
xref: UMLS:C1842531 {source="Orphanet:163727", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608105", source="ORDO:163727/e"}
is_a: MONDO:0020072 {source="Orphanet:163727"} ! childhood-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/mesh/C535499
property_value: exactMatch http://identifiers.org/omim/608105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842531
property_value: exactMatch Orphanet:163727

[Term]
id: MONDO:0011971
name: hyper-IgM syndrome type 5
def: "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010581"}
subset: ordo_clinical_subtype {source="Orphanet:101092"}
synonym: "HIGM5" EXACT [DOID:0060759, MONDO:Lexical, OMIM:608106, Orphanet:101092]
synonym: "hyper IgM syndrome 5" RELATED [GARD:0010581]
synonym: "hyper-IgM syndrome 5" EXACT [DOID:0060759, OMIM:608106]
synonym: "hyper-IgM syndrome caused by mutation in UNG" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [DOID:0060759, Orphanet:101092]
synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [DOID:0060759, Orphanet:101092]
synonym: "immunodeficiency with hyper IgM type 5" RELATED [DOID:0060759]
synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106]
synonym: "immunodeficiency with hyper-IgM, type 5; HIGM5" RELATED [OMIM:608106]
synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060759 {source="MONDO:equivalentTo"}
xref: GARD:0010581 {source="MONDO:equivalentTo"}
xref: ICD10:D80.5 {source="ORDO:101092/attributed", source="ORDO:101092/ntbt", source="Orphanet:101092", source="DOID:0060759"}
xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="ORDO:101092/e", source="DOID:0060759"}
xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"}
is_a: MONDO:0015976 {source="Orphanet:101092"} ! hyper-IgM syndrome without susceptibility to opportunistic infections
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720958
property_value: exactMatch DOID:0060759
property_value: exactMatch http://identifiers.org/omim/608106
property_value: exactMatch Orphanet:101092
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 xsd:anyURI {source="GARD:0010581"}

[Term]
id: MONDO:0011972
name: ovarian hyperstimulation syndrome
def: "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." [MESH:D016471]
subset: ordo_disease {source="Orphanet:64739"}
synonym: "OHSS" EXACT [MONDO:Lexical, OMIM:608115, Orphanet:64739]
synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115]
synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115]
synonym: "ovarian hyperstimulation syndrome; OHSS" RELATED [OMIM:608115]
synonym: "secondary Meig's syndrome" EXACT [DOID:5425]
xref: DOID:5425 {source="MONDO:equivalentTo"}
xref: ICD10:N98.1 {source="ORDO:64739/e", source="Orphanet:64739", source="ORDO:64739/specific"}
xref: ICD9:256.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10033266 {source="ORDO:64739/e", source="Orphanet:64739"}
xref: MESH:D016471 {source="DOID:5425", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739", source="MONDO:ontobio"}
xref: OMIM:608115 {source="DOID:5425", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739"}
xref: Orphanet:64739 {source="MONDO:equivalentTo", source="OMIM:608115"}
xref: SCTID:129635004 {source="DOID:5425", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085083 {source="DOID:5425", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739", source="OMIM:608115"}
is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471", source="linkedlifedata"} ! ovarian disease
is_a: MONDO:0015875 {source="Orphanet:64739"} ! rare non-malformative uterine adnexal disease
property_value: exactMatch DOID:5425
property_value: exactMatch http://identifiers.org/meddra/10033266
property_value: exactMatch http://identifiers.org/mesh/D016471
property_value: exactMatch http://identifiers.org/omim/608115
property_value: exactMatch http://identifiers.org/snomedct/129635004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085083
property_value: exactMatch Orphanet:64739

[Term]
id: MONDO:0011973
name: zinc deficiency, transient neonatal
synonym: "TNZD" RELATED [MONDO:Lexical, OMIM:608118]
synonym: "zinc deficiency, neonatal, due to Low breast milk zinc" RELATED [OMIM:608118]
synonym: "zinc deficiency, transient neonatal" EXACT [MONDO:Lexical, OMIM:608118]
synonym: "zinc deficiency, transient neonatal; TNZD" RELATED [OMIM:608118]
synonym: "zinc in breast milk, reduced" RELATED [OMIM:608118]
xref: MESH:C564286 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608118 {source="MONDO:equivalentTo"}
xref: UMLS:C1842486 {source="OMIM:608118", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842485
property_value: exactMatch http://identifiers.org/mesh/C564286
property_value: exactMatch http://identifiers.org/omim/608118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842486

[Term]
id: MONDO:0011974
name: retinitis pigmentosa 7
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." [DOID:0110383, PMID:1749427]
subset: gard_rare {source="GARD:0010386"}
synonym: "Leber congenital amaurosis 18" RELATED [OMIM:608133]
synonym: "retinitis pigmentosa 7" EXACT [MONDO:Lexical, OMIM:608133]
synonym: "retinitis pigmentosa 7, digenic" RELATED [OMIM:608133]
synonym: "retinitis pigmentosa 7; RP7" RELATED [OMIM:608133]
synonym: "retinitis pigmentosa type 7" EXACT [DOID:0110383, MONDORULE:1, OMIM:608133]
synonym: "RP 7" RELATED [GARD:0010386]
synonym: "RP7" EXACT [DOID:0110383, MONDO:Lexical, OMIM:608133]
xref: DOID:0110383 {source="MONDO:equivalentTo"}
xref: GARD:0010386 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110383"}
xref: OMIM:608133 {source="MONDO:equivalentTo", source="DOID:0110383"}
xref: UMLS:C1842475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608133"}
is_a: MONDO:0019200 {source="DC-OMIM:608133", source="DOID:0110383", source="MONDO:Redundant", source="OMIM:608133"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675552
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675553
property_value: exactMatch DOID:0110383
property_value: exactMatch http://identifiers.org/omim/608133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842475
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7 xsd:anyURI {source="GARD:0010386"}

[Term]
id: MONDO:0011975
name: paternal uniparental disomy of chromosome 14
subset: gard_rare {source="GARD:0005409"}
subset: ordo_etiological_subtype {source="Orphanet:96334"}
synonym: "KAGAMI-Ogata syndrome" RELATED [OMIM:608149]
synonym: "paternal uniparental disomy 14" RELATED [GARD:0005409]
synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96334]
synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149]
synonym: "UPD(14)pat" EXACT [Orphanet:96334]
xref: GARD:0005409 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="Orphanet:96334", source="ORDO:96334/attributed", source="ORDO:96334/ntbt"}
xref: MESH:C536471 {source="ORDO:96334/e", source="Orphanet:96334", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608149 {source="MONDO:equivalentTo"}
xref: Orphanet:96334 {source="MONDO:equivalentTo"}
xref: UMLS:C1842466 {source="ORDO:96334/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:96334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608149"}
is_a: MONDO:0016779 {source="Orphanet:96334"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020057 {source="Orphanet:96334"} ! uniparental disomy of paternal origin
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch Orphanet:263049
property_value: exactMatch http://identifiers.org/mesh/C536471
property_value: exactMatch http://identifiers.org/omim/608149
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842466
property_value: exactMatch Orphanet:96334
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 xsd:anyURI {source="GARD:0005409"}

[Term]
id: MONDO:0011976
name: lipodystrophy-intellectual disability-deafness syndrome
def: "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." [Orphanet:50811]
subset: ordo_disease {source="Orphanet:50811"}
synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED [OMIM:608154]
synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811]
xref: ICD10:Q78.8 {source="ORDO:50811/attributed", source="ORDO:50811/ntbt", source="Orphanet:50811"}
xref: MESH:C564283 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608154 {source="MONDO:equivalentTo", source="ORDO:50811/e", source="Orphanet:50811"}
xref: Orphanet:50811 {source="MONDO:equivalentTo", source="OMIM:608154"}
xref: SCTID:721973006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:50811"} ! progeroid syndrome
is_a: MONDO:0019589 {source="Orphanet:50811"} ! syndromic genetic deafness
is_a: MONDO:0019705 {source="Orphanet:50811"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0020087 {source="Orphanet:50811"} ! genetic lipodystrophy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842465
property_value: exactMatch http://identifiers.org/mesh/C564283
property_value: exactMatch http://identifiers.org/omim/608154
property_value: exactMatch http://identifiers.org/snomedct/721973006
property_value: exactMatch Orphanet:50811

[Term]
id: MONDO:0011977
name: 8q22.1 microdeletion syndrome
def: "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." [Orphanet:178303]
subset: ordo_malformation_syndrome {source="Orphanet:178303"}
synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [OMIM:608156]
synonym: "monosomy 8q22.1" EXACT [Orphanet:178303]
synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156]
synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303]
synonym: "NABLUS mask-like facial syndrome; NMLFS" RELATED [OMIM:608156]
synonym: "NMLFS" RELATED [MONDO:Lexical, OMIM:608156]
xref: GARD:0004722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:178303/attributed", source="ORDO:178303/ntbt", source="Orphanet:178303"}
xref: MESH:C536110 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608156 {source="ORDO:178303/e", source="MONDO:equivalentTo", source="Orphanet:178303"}
xref: Orphanet:178303 {source="MONDO:equivalentTo", source="OMIM:608156"}
xref: SCTID:719664004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1842464 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:178303", source="OMIM:608156"}
is_a: MONDO:0016907 {source="MONDOLEX:0011977", source="Orphanet:178303"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:178303"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536110
property_value: exactMatch http://identifiers.org/omim/608156
property_value: exactMatch http://identifiers.org/snomedct/719664004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842464
property_value: exactMatch Orphanet:178303

[Term]
id: MONDO:0011978
name: CoQ-responsive OXPHOS deficiency
subset: n_of_one
synonym: "CoQ-responsive oxidative phosphorylation disorder" EXACT []
synonym: "CoQ-responsive OXPHOS deficiency" EXACT [OMIM:608158]
xref: GARD:0010240 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535470 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608158 {source="MONDO:equivalentTo"}
xref: UMLS:C1842463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608158"}
is_a: MONDO:0006025 ! autosomal recessive disease
relationship: disease_shares_features_of MONDO:0009723 {source="PMID:12948744"} ! Leigh syndrome
property_value: exactMatch http://identifiers.org/mesh/C535470
property_value: exactMatch http://identifiers.org/omim/608158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842463

[Term]
id: MONDO:0011979
name: adult-onset foveomacular vitelliform dystrophy
def: "adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:99000]
subset: ordo_disease {source="Orphanet:99000"}
synonym: "adult-onset foveomacular dystrophy" EXACT [Orphanet:99000]
synonym: "adult-onset foveomacular dystrophy with choroidal neovascularization" EXACT [Orphanet:99000]
synonym: "adult-onset vitelliform macular dystrophy" EXACT [Orphanet:99000]
synonym: "AOFMD" EXACT [Orphanet:99000]
synonym: "AVMD" EXACT [Orphanet:99000]
synonym: "foveomacular dystrophy, adult-onset, with choroidal neovascularization" RELATED [GARD:0010909]
synonym: "foveomacular dystrophy, adult-onset; AOFMD" RELATED [GARD:0010909]
synonym: "Gass disease" EXACT [Orphanet:99000]
synonym: "macular dystrophy, vitelliform, 3" RELATED [MONDO:Lexical, OMIM:608161]
synonym: "macular dystrophy, vitelliform, adult-onset" RELATED [GARD:0010909]
synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1, OMIM:608161]
synonym: "pseudo-Best disease" EXACT [Orphanet:99000]
synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000]
synonym: "VMD3" RELATED [MONDO:Lexical, OMIM:608161]
xref: GARD:0010909 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:99000/attributed", source="ORDO:99000/ntbt", source="Orphanet:99000"}
xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"}
xref: SCTID:232049001 {source="MONDO:equivalentTo"}
xref: UMLS:C1842914 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000390 {source="DC-OMIM:608161", source="OMIM:608161"} ! vitelliform macular dystrophy
property_value: exactMatch http://identifiers.org/snomedct/232049001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842914
property_value: exactMatch Orphanet:99000

[Term]
id: MONDO:0011980
name: autoimmune thyroid disease, susceptibility to, 1
subset: predisposition
synonym: "AITD1" RELATED [OMIM:608173]
synonym: "autoimmune thyroid disease, susceptibility to, 1" EXACT [OMIM:608173]
synonym: "autoimmune thyroid disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608173]
xref: OMIM:608173 {source="MONDO:equivalentTo"}
xref: UMLS:C1842446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608173"}
is_a: MONDO:0000162 {source="DC-OMIM:608173"} ! autoimmune thyroid disease, susceptibility to
property_value: exactMatch http://identifiers.org/omim/608173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842446

[Term]
id: MONDO:0011981
name: autoimmune thyroid disease, susceptibility to, 2
subset: predisposition
synonym: "AITD2" RELATED [OMIM:608174]
synonym: "autoimmune thyroid disease, susceptibility to, 2" EXACT [OMIM:608174]
synonym: "autoimmune thyroid disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608174]
xref: OMIM:608174 {source="MONDO:equivalentTo"}
xref: UMLS:C1842445 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608174"}
is_a: MONDO:0000162 {source="DC-OMIM:608174"} ! autoimmune thyroid disease, susceptibility to
property_value: exactMatch http://identifiers.org/omim/608174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842445

[Term]
id: MONDO:0011982
name: autoimmune thyroid disease, susceptibility to, 3
comment: Editor note: TODO check causative gene; check ORDO synonyms
subset: predisposition
synonym: "AITD3" RELATED [MONDO:Lexical, OMIM:608175]
synonym: "autoimmune thyroid disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608175]
synonym: "autoimmune thyroid disease, susceptibility to, 3; AITD3" RELATED [OMIM:608175]
synonym: "autoimmune thyroid disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608175]
synonym: "TGN" RELATED EXCLUDE [Orphanet:168347]
synonym: "thyroglobulin" RELATED EXCLUDE [Orphanet:168347]
xref: OMIM:608175 {source="MONDO:equivalentTo"}
is_a: MONDO:0000162 {source="DC-OMIM:608175"} ! autoimmune thyroid disease, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842444
property_value: exactMatch http://identifiers.org/omim/608175

[Term]
id: MONDO:0011983
name: autoimmune thyroid disease, susceptibility to, 4
subset: predisposition
synonym: "AITD4" RELATED [OMIM:608176]
synonym: "autoimmune thyroid disease, susceptibility to, 4" EXACT [OMIM:608176]
synonym: "autoimmune thyroid disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608176]
xref: OMIM:608176 {source="MONDO:equivalentTo"}
xref: UMLS:C1842443 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608176"}
is_a: MONDO:0000162 {source="DC-OMIM:608176"} ! autoimmune thyroid disease, susceptibility to
property_value: exactMatch http://identifiers.org/omim/608176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842443

[Term]
id: MONDO:0011984
name: synpolydactyly type 2
def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:295197"}
synonym: "FBLN1 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic synpolydactyly caused by mutation in FBLN1" EXACT [MONDO:design_pattern]
synonym: "SD2, Debeer type" EXACT [Orphanet:295197]
synonym: "SD2b" EXACT [Orphanet:295197]
synonym: "SPD, Debeer type" EXACT [Orphanet:295197]
synonym: "SPD2" EXACT [MONDO:Lexical, OMIM:608180, Orphanet:295197]
synonym: "synpolydactyly 2" RELATED [MONDO:Lexical, OMIM:608180]
synonym: "synpolydactyly 2; SPD2" RELATED [OMIM:608180]
synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180]
synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180]
synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197]
xref: ICD10:Q70.0 {source="Orphanet:295197", source="ORDO:295197/nd", source="ORDO:295197/attributed"}
xref: ICD10:Q70.2 {source="Orphanet:295197", source="ORDO:295197/nd", source="ORDO:295197/attributed"}
xref: MESH:C564278 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608180 {source="Orphanet:295197", source="ORDO:295197/e", source="MONDO:equivalentTo"}
xref: Orphanet:295197 {source="OMIM:608180", source="MONDO:equivalentTo"}
xref: UMLS:C1842422 {source="Orphanet:295197", source="OMIM:608180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000722 {source="DC-OMIM:608180", source="MONDO:Redundant"} ! non-syndromic synpolydactyly
is_a: MONDO:0019683 {source="MONDOLEX:0011984", source="Orphanet:295197"} ! syndactyly type 2
property_value: exactMatch http://identifiers.org/mesh/C564278
property_value: exactMatch http://identifiers.org/omim/608180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842422
property_value: exactMatch Orphanet:295197

[Term]
id: MONDO:0011985
name: hyper-IgM syndrome type 4
def: "a form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." [https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_4]
subset: gard_rare {source="GARD:0010580"}
subset: ordo_clinical_subtype {source="Orphanet:101091"}
synonym: "HIGM4" EXACT [DOID:0060760, MONDO:Lexical, OMIM:608184, Orphanet:101091]
synonym: "hyper IgM syndrome 4" RELATED [GARD:0010580]
synonym: "hyper-IgM syndrome 4" RELATED [OMIM:608184]
synonym: "hyper-IgM syndrome type 4" EXACT [DOID:0060760]
synonym: "immunodeficiency with hyper IgM type 4" RELATED [GARD:0010580]
synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760]
synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184]
synonym: "immunodeficiency with hyper-IgM, type 4; HIGM4" RELATED [OMIM:608184]
xref: DOID:0060760 {source="MONDO:equivalentTo"}
xref: GARD:0010580 {source="MONDO:equivalentTo"}
xref: ICD10:D80.5 {source="DOID:0060760", source="ORDO:101091/attributed", source="ORDO:101091/ntbt", source="Orphanet:101091"}
xref: MESH:C564277 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="ORDO:101091/e", source="Orphanet:101091"}
xref: Orphanet:101091 {source="DOID:0060760", source="MONDO:equivalentTo", source="OMIM:608184"}
xref: UMLS:C1842413 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608184", source="Orphanet:101091"}
is_a: MONDO:0015976 {source="Orphanet:101091"} ! hyper-IgM syndrome without susceptibility to opportunistic infections
property_value: exactMatch DOID:0060760
property_value: exactMatch http://identifiers.org/mesh/C564277
property_value: exactMatch http://identifiers.org/omim/608184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842413
property_value: exactMatch Orphanet:101091
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 xsd:anyURI {source="GARD:0010580"}

[Term]
id: MONDO:0011986
name: tropical pancreatitis
def: "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." [Orphanet:103918]
subset: ordo_disease {source="Orphanet:103918"}
synonym: "TCP" EXACT [OMIM:608189, Orphanet:103918]
synonym: "tropical calcific chronic pancreatitis" EXACT [Orphanet:103918]
synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189]
xref: ICD10:K86.1 {source="ORDO:103918/ntbt", source="Orphanet:103918"}
xref: MESH:C564276 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608189 {source="MONDO:equivalentTo", source="ORDO:103918/e", source="Orphanet:103918"}
xref: Orphanet:103918 {source="MONDO:equivalentTo", source="OMIM:608189"}
xref: SCTID:724540009 {source="MONDO:equivalentTo"}
xref: UMLS:C1842402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="OMIM:608189", source="Orphanet:103918"}
xref: UMLS:C4510860 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008185 ! hereditary chronic pancreatitis
property_value: exactMatch http://identifiers.org/mesh/C564276
property_value: exactMatch http://identifiers.org/omim/608189
property_value: exactMatch http://identifiers.org/snomedct/724540009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510860
property_value: exactMatch Orphanet:103918

[Term]
id: MONDO:0011987
name: cone-rod dystrophy 13
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 13" EXACT [MONDO:Lexical, OMIM:608194]
synonym: "cone-rod dystrophy 13; CORD13" RELATED [OMIM:608194]
synonym: "cone-rod dystrophy caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 13" EXACT [DOID:0111016, MONDORULE:2, OMIM:608194]
synonym: "CORD13" EXACT [DOID:0111016, MONDO:Lexical, OMIM:608194]
synonym: "RPGRIP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111016 {source="MONDO:equivalentTo"}
xref: MESH:C567698 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608194 {source="MONDO:equivalentTo", source="DOID:0111016"}
xref: UMLS:C2750720 {source="OMIM:608194", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:608194", source="DOID:0111016", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111016
property_value: exactMatch http://identifiers.org/mesh/C567698
property_value: exactMatch http://identifiers.org/omim/608194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750720

[Term]
id: MONDO:0011988
name: neutrophil immunodeficiency syndrome
def: "Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." [Orphanet:183707]
subset: ordo_disease {source="Orphanet:183707"}
synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203]
xref: ICD10:D71 {source="Orphanet:183707", source="ORDO:183707/attributed", source="ORDO:183707/ntbt"}
xref: MESH:C564275 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608203 {source="ORDO:183707/e", source="Orphanet:183707", source="MONDO:equivalentTo"}
xref: Orphanet:183707 {source="MONDO:equivalentTo", source="OMIM:608203"}
xref: SCTID:723443003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842398 {source="NCBI:mim2gene_medline", source="Orphanet:183707", source="MONDO:equivalentTo", source="OMIM:608203"}
is_a: MONDO:0015978 {source="Orphanet:183707"} ! functional neutrophil defect
property_value: exactMatch http://identifiers.org/mesh/C564275
property_value: exactMatch http://identifiers.org/omim/608203
property_value: exactMatch http://identifiers.org/snomedct/723443003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842398
property_value: exactMatch Orphanet:183707

[Term]
id: MONDO:0011989
name: leishmaniasis
def: "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." [Orphanet:507]
subset: ordo_disease {source="Orphanet:507"}
synonym: "cutaneous leishmaniasis (subtype)" RELATED [GARD:0006881]
synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065, NCIT:C34936]
synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [DOID:9065]
synonym: "post-kala-azar dermal leishmaniasis" RELATED [DOID:9065]
synonym: "visceral leishmaniasis (subtype)" RELATED [GARD:0006881]
xref: COHD:433407 {source="MONDO:equivalentTo"}
xref: DOID:9065 {source="MONDO:equivalentTo", source="EFO:0005044"}
xref: EFO:0005044 {source="MONDO:equivalentTo"}
xref: GARD:0006881 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B55 {source="MONDO:equivalentTo", source="DOID:9065"}
xref: ICD10:B55.0 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"}
xref: ICD10:B55.1 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"}
xref: ICD10:B55.2 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"}
xref: ICD10:B55.9 {source="ORDO:507/btnt", source="DOID:9065", source="Orphanet:507"}
xref: ICD9:085 {source="DOID:9065", source="EFO:0005044"}
xref: ICD9:085.9 {source="MONDO:equivalentTo", source="DOID:9065", source="i2s"}
xref: MedDRA:10024198 {source="ORDO:507/e", source="Orphanet:507"}
xref: MESH:D007896 {source="ORDO:507/e", source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="MONDO:ontobio", source="EFO:0005044"}
xref: NCIT:C34767 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"}
xref: Orphanet:507 {source="OMIM:608207", source="MONDO:equivalentTo"}
xref: SCTID:80612004 {source="MONDO:kboom-pr-0.84/0.68/0.08", source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"}
xref: UMLS:C0023281 {source="ORDO:507/e", source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="NCIT:C34767"}
is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154377009
property_value: closeMatch http://identifiers.org/snomedct/186811002
property_value: closeMatch http://identifiers.org/snomedct/187511000
property_value: closeMatch http://identifiers.org/snomedct/266206004
property_value: exactMatch DOID:9065
property_value: exactMatch http://identifiers.org/meddra/10024198
property_value: exactMatch http://identifiers.org/mesh/D007896
property_value: exactMatch http://identifiers.org/snomedct/80612004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023281
property_value: exactMatch NCIT:C34767
property_value: exactMatch Orphanet:507

[Term]
id: MONDO:0011990
name: BFNS3
synonym: "BFNS3" EXACT [MONDO:Lexical, OMIM:608217]
synonym: "convulsions, benign familial neonatal, 3" RELATED [OMIM:608217]
synonym: "seizures, benign familial neonatal, 3" RELATED [MONDO:Lexical, OMIM:608217]
synonym: "seizures, benign familial neonatal, 3; BFNS3" RELATED [OMIM:608217]
xref: MESH:C564274 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608217 {source="MONDO:equivalentTo"}
xref: UMLS:C1842382 {source="OMIM:608217", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016027 {source="DC-OMIM:608217", source="OMIM:608217"} ! benign neonatal seizures
property_value: exactMatch http://identifiers.org/mesh/C564274
property_value: exactMatch http://identifiers.org/omim/608217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842382

[Term]
id: MONDO:0011991
name: autosomal recessive nonsyndromic deafness 38
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27." [DOID:0110496, PMID:12890929]
synonym: "autosomal recessive deafness 38" EXACT [DOID:0110496]
synonym: "autosomal recessive nonsyndromic deafness type 38" EXACT [DOID:0110496, MONDORULE:2]
synonym: "deafness, autosomal recessive 38" RELATED [MONDO:Lexical, OMIM:608219]
synonym: "deafness, autosomal recessive 38; DFNB38" RELATED [OMIM:608219]
synonym: "DFNB38" EXACT [DOID:0110496, MONDO:Lexical, OMIM:608219]
xref: DOID:0110496 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110496"}
xref: MESH:C564273 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608219 {source="MONDO:equivalentTo", source="DOID:0110496"}
xref: UMLS:C1842381 {source="OMIM:608219", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:608219", source="DOID:0110496", source="OMIM:608219"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110496
property_value: exactMatch http://identifiers.org/mesh/C564273
property_value: exactMatch http://identifiers.org/omim/608219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842381

[Term]
id: MONDO:0011992
name: hereditary spastic paraplegia 25
def: "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." [Orphanet:101005]
subset: ordo_disease {source="Orphanet:101005"}
synonym: "autosomal recessive spastic paraplegia 25" EXACT [DOID:0110776]
synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776]
synonym: "autosomal recessive spastic paraplegia-disc herniation syndrome" EXACT [Orphanet:101005]
synonym: "Disc herniation with spastic paraplegia, autosomal recessive" RELATED [OMIM:608220]
synonym: "hereditary spastic paraplegia type 25" EXACT [DOID:0110776, MONDORULE:2]
synonym: "spastic paraplegia 25" RELATED [GARD:0009582]
synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608220]
synonym: "spastic paraplegia 25, autosomal recessive; SPG25" RELATED [OMIM:608220]
synonym: "SPG25" EXACT [DOID:0110776, MONDO:Lexical, OMIM:608220, Orphanet:101005]
synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582]
xref: DOID:0110776 {source="MONDO:equivalentTo"}
xref: GARD:0009582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="DOID:0110776", source="MONDO:subClassOf", source="Orphanet:101005", source="ORDO:101005/attributed", source="ORDO:101005/ntbt"}
xref: MESH:C536861 {source="Orphanet:101005", source="ORDO:101005/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="ORDO:101005/e", source="MONDO:equivalentTo"}
xref: Orphanet:101005 {source="DOID:0110776", source="MONDO:equivalentTo", source="OMIM:608220"}
xref: SCTID:732933009 {source="MONDO:equivalentTo"}
xref: UMLS:C2936860 {source="Orphanet:101005", source="NCBI:mim2gene_medline", source="ORDO:101005/e", source="MONDO:equivalentTo", source="OMIM:608220", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4518003 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015089 {source="Orphanet:101005"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110776
property_value: exactMatch http://identifiers.org/mesh/C536861
property_value: exactMatch http://identifiers.org/omim/608220
property_value: exactMatch http://identifiers.org/snomedct/732933009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518003
property_value: exactMatch Orphanet:101005

[Term]
id: MONDO:0011993
name: aspirin resistance
synonym: "aspirin resistance" EXACT [OMIM:608223]
synonym: "aspirin, resistance to Antithrombotic Effect of" RELATED [OMIM:608223]
synonym: "aspirin, resistance to Cardioprotective Effect of" RELATED [OMIM:608223]
xref: OMIM:608223 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842372
property_value: exactMatch http://identifiers.org/omim/608223

[Term]
id: MONDO:0011994
name: autosomal dominant nonsyndromic deafness 41
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 41" EXACT [DOID:0110567]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 41" EXACT [DOID:0110567, MONDORULE:2]
synonym: "deafness, autosomal dominant 41" RELATED [MONDO:Lexical, OMIM:608224]
synonym: "deafness, autosomal dominant 41; DFNA41" RELATED [OMIM:608224]
synonym: "deafness, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:608224]
synonym: "DFNA41" EXACT [DOID:0110567, MONDO:Lexical, OMIM:608224]
synonym: "P2RX2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110567 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110567"}
xref: MESH:C564272 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608224 {source="DOID:0110567", source="MONDO:equivalentTo"}
xref: UMLS:C1842371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608224"}
is_a: MONDO:0019587 {source="DC-OMIM:608224", source="DOID:0110567", source="MONDO:Redundant", source="OMIM:608224"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110567
property_value: exactMatch http://identifiers.org/mesh/C564272
property_value: exactMatch http://identifiers.org/omim/608224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842371

[Term]
id: MONDO:0011995
name: cataract - congenital heart disease - neural tube defect syndrome
def: "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." [Orphanet:314993]
subset: ordo_malformation_syndrome {source="Orphanet:314993"}
synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED [OMIM:608227]
xref: MESH:C564271 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608227 {source="MONDO:equivalentTo", source="Orphanet:314993", source="ORDO:314993/e"}
xref: Orphanet:314993 {source="OMIM:608227", source="MONDO:equivalentTo"}
xref: UMLS:C1842363 {source="OMIM:608227", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:314993"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0020225 {source="Orphanet:314993"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C564271
property_value: exactMatch http://identifiers.org/omim/608227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842363
property_value: exactMatch Orphanet:314993

[Term]
id: MONDO:0011996
name: chronic myelogenous leukemia, BCR-ABL1 positive
def: "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." [NCIT:C3174]
subset: ordo_disease {source="Orphanet:521"}
synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174]
synonym: "chronic granulocytic leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521]
synonym: "chronic myelocytic leukemia" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521]
synonym: "chronic myelogenous leukemia (CML)" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukemias" EXACT [NCIT:C3174]
synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174]
synonym: "CML" EXACT [CSP2005:2004-1700, DOID:8552, NCIT:C3174, Orphanet:521]
synonym: "CML" RELATED [MONDO:Lexical, OMIM:608232]
synonym: "CML - chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174]
synonym: "hematopoeitic - chronic myelocytic leukemia (CML)" EXACT [NCIT:C3174]
synonym: "leukemia, chronic myelogenous" RELATED [OMIM:608232]
synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical, OMIM:608232]
synonym: "leukemia, chronic myeloid, atypical" RELATED [OMIM:608232]
synonym: "leukemia, chronic myeloid; CML" RELATED [OMIM:608232]
synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, MTH:NOCODE]
xref: COHD:134603 {source="MONDO:equivalentTo"}
xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"}
xref: EFO:0000339 {source="MONDO:equivalentTo", source="DOID:8552"}
xref: GARD:0006105 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C92.1 {source="Orphanet:521", source="ORDO:521/e"}
xref: ICD9:205.1 {source="DOID:8552", source="EFO:0000339"}
xref: ICDO:9863/3 {source="NCIT:C3174"}
xref: ICDO:9875/3 {source="NCIT:C3174"}
xref: KEGG:05220 {source="MONDO:equivalentTo", source="DOID:8552"}
xref: MedDRA:10009013 {source="Orphanet:521", source="ORDO:521/e"}
xref: NCIT:C3174 {source="MONDO:equivalentTo", source="DOID:8552"}
xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="DOID:8552", source="ORDO:521/e", source="EFO:0000339"}
xref: ONCOTREE:CML {source="MONDO:equivalentTo"}
xref: Orphanet:521 {source="MONDO:equivalentTo", source="OMIM:608232"}
xref: UMLS:C0023473 {source="Orphanet:521", source="MEDGEN:kboom-pr98-c99", source="NCIT:C3174", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608232", source="DOID:8552", source="ORDO:521/e"}
is_a: MONDO:0004643 {source="DOID:8552", source="MONDO:Entailed", source="MONDOLEX:0011996", source="NCIT:C3174"} ! myeloid leukemia
property_value: closeMatch http://identifiers.org/mesh/D015464
property_value: closeMatch http://identifiers.org/mesh/D015466
property_value: closeMatch http://identifiers.org/snomedct/154592009
property_value: closeMatch http://identifiers.org/snomedct/188735005
property_value: closeMatch http://identifiers.org/snomedct/63364005
property_value: closeMatch http://identifiers.org/snomedct/92817004
property_value: closeMatch http://identifiers.org/snomedct/92818009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292772
property_value: exactMatch DOID:8552
property_value: exactMatch http://identifiers.org/meddra/10009013
property_value: exactMatch http://identifiers.org/omim/608232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023473
property_value: exactMatch NCIT:C3174
property_value: exactMatch Orphanet:521

[Term]
id: MONDO:0011997
name: Hermansky-Pudlak syndrome 2
def: "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." [Orphanet:183678]
subset: gard_rare {source="GARD:0009435"}
subset: ordo_clinical_subtype {source="Orphanet:183678"}
synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435]
synonym: "Hermansky-Pudlak syndrome 2" EXACT [MONDO:Lexical, OMIM:608233]
synonym: "Hermansky-Pudlak syndrome 2; HPS2" RELATED [OMIM:608233]
synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3B1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 2" EXACT [DOID:0060540, MONDORULE:1, OMIM:608233, Orphanet:183678]
synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [Orphanet:183678]
synonym: "HPS2" EXACT [MONDO:Lexical, OMIM:608233, Orphanet:183678]
synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435]
xref: DOID:0060540 {source="MONDO:equivalentTo"}
xref: GARD:0009435 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678", source="ORDO:183678/attributed", source="ORDO:183678/ntbt"}
xref: MESH:C537709 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C150368 {source="MONDO:equivalentTo"}
xref: OMIM:608233 {source="DOID:0060540", source="MONDO:equivalentTo", source="Orphanet:183678", source="ORDO:183678/e"}
xref: Orphanet:183678 {source="MONDO:equivalentTo", source="OMIM:608233"}
xref: UMLS:C1842362 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608233", source="Orphanet:183678"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018032 {source="Orphanet:183678"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0018042 {source="Orphanet:183678"} ! immunodeficiency syndrome with abnormal pigmentation
is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="MONDO:Redundant", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome
is_a: MONDO:0020244 {source="Orphanet:183678"} ! unclassified primitive or secondary maculopathy
property_value: exactMatch DOID:0060540
property_value: exactMatch http://identifiers.org/mesh/C537709
property_value: exactMatch http://identifiers.org/omim/608233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842362
property_value: exactMatch NCIT:C150368
property_value: exactMatch Orphanet:183678
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 xsd:anyURI {source="GARD:0009435"}

[Term]
id: MONDO:0011998
name: autosomal dominant slowed nerve conduction velocity
def: "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." [Orphanet:140481]
subset: ordo_disease {source="Orphanet:140481"}
synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236]
synonym: "slowed nerve conduction velocity, autosomal dominant; SNCV" RELATED [OMIM:608236]
synonym: "SNCV" RELATED [MONDO:Lexical, OMIM:608236]
xref: ICD10:G60.0 {source="Orphanet:140481", source="ORDO:140481/attributed", source="ORDO:140481/ntbt"}
xref: MESH:C564269 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608236 {source="ORDO:140481/e", source="Orphanet:140481", source="MONDO:equivalentTo"}
xref: Orphanet:140481 {source="MONDO:equivalentTo", source="OMIM:608236"}
xref: SCTID:764854006 {source="MONDO:equivalentTo"}
xref: UMLS:C1842357 {source="Orphanet:140481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608236"}
is_a: MONDO:0015359 {source="Orphanet:140481"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/mesh/C564269
property_value: exactMatch http://identifiers.org/omim/608236
property_value: exactMatch http://identifiers.org/snomedct/764854006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842357
property_value: exactMatch Orphanet:140481

[Term]
id: MONDO:0011999
name: OTSC3
synonym: "otosclerosis 3" RELATED [MONDO:Lexical, OMIM:608244]
synonym: "otosclerosis 3; OTSC3" RELATED [OMIM:608244]
synonym: "OTSC3" EXACT [MONDO:Lexical, OMIM:608244]
xref: MESH:C564268 {source="MONDO:equivalentTo"}
xref: OMIM:608244 {source="MONDO:equivalentTo"}
xref: UMLS:C1842353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608244"}
is_a: MONDO:0005349 {source="DC-OMIM:608244", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C564268
property_value: exactMatch http://identifiers.org/omim/608244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842353

[Term]
id: MONDO:0012000
name: specific phobia
def: "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." [NCIT:P378]
synonym: "phobia, simple" RELATED [OMIM:608251]
synonym: "phobia, specific" RELATED [OMIM:608251]
synonym: "simple phobia" EXACT [DOID:599]
xref: DOID:599 {source="MONDO:equivalentTo"}
xref: EFO:1001918 {source="MONDO:equivalentTo"}
xref: ICD10:F40.2 {source="DOID:599"}
xref: ICD9:300.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562465 {source="DOID:599", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35284 {source="DOID:599", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:608251 {source="DOID:599", source="MONDO:equivalentTo"}
xref: SCTID:54587008 {source="DOID:599", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0003699 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="NCIT:C35284", source="linkedlifedata"} ! phobic disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/192396001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236801
property_value: exactMatch DOID:599
property_value: exactMatch http://identifiers.org/mesh/C562465
property_value: exactMatch http://identifiers.org/omim/608251
property_value: exactMatch http://identifiers.org/snomedct/54587008
property_value: exactMatch NCIT:C35284

[Term]
id: MONDO:0012001
name: mandibulofacial dysostosis with ptosis, autosomal dominant
synonym: "mandibulofacial dysostosis with ptosis, autosomal dominant" EXACT [OMIM:608257]
xref: MESH:C564267 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608257 {source="MONDO:equivalentTo"}
xref: UMLS:C1842349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608257"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564267
property_value: exactMatch http://identifiers.org/omim/608257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842349

[Term]
id: MONDO:0012002
name: autosomal recessive nonsyndromic deafness 40
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1." [DOID:0110499, PMID:14512974]
synonym: "autosomal recessive deafness 40" EXACT [DOID:0110499]
synonym: "autosomal recessive nonsyndromic deafness type 40" EXACT [DOID:0110499, MONDORULE:2]
synonym: "deafness, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:608264]
synonym: "deafness, autosomal recessive 40; DFNB40" RELATED [OMIM:608264]
synonym: "DFNB40" EXACT [DOID:0110499, MONDO:Lexical, OMIM:608264]
xref: DOID:0110499 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110499"}
xref: MESH:C564266 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608264 {source="MONDO:equivalentTo", source="DOID:0110499"}
xref: UMLS:C1842345 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608264"}
is_a: MONDO:0019588 {source="DC-OMIM:608264", source="DOID:0110499", source="OMIM:608264"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110499
property_value: exactMatch http://identifiers.org/mesh/C564266
property_value: exactMatch http://identifiers.org/omim/608264
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842345

[Term]
id: MONDO:0012003
name: autosomal recessive nonsyndromic deafness 39
def: "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." [NCIT:C129874]
subset: clingen
synonym: "autosomal recessive deafness 39" EXACT [DOID:0110497]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 39" EXACT [DOID:0110497, MONDORULE:2]
synonym: "deafness, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:608265]
synonym: "deafness, autosomal recessive 39; DFNB39" RELATED [OMIM:608265]
synonym: "deafness, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:608265]
synonym: "DFNB39" EXACT [DOID:0110497, MONDO:Lexical, OMIM:608265]
synonym: "HGF autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110497 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110497"}
xref: MESH:C564265 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129874 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:608265 {source="MONDO:equivalentTo", source="DOID:0110497"}
xref: UMLS:C1842342 {source="NCIT:C129874", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608265"}
is_a: MONDO:0019588 {source="DC-OMIM:608265", source="DOID:0110497", source="MONDO:Redundant", source="OMIM:608265"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110497
property_value: exactMatch http://identifiers.org/mesh/C564265
property_value: exactMatch http://identifiers.org/omim/608265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842342
property_value: exactMatch NCIT:C129874

[Term]
id: MONDO:0012004
name: parathyroid gland carcinoma
def: "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." [Orphanet:143]
subset: ordo_disease {source="Orphanet:143"}
synonym: "adenocarcinoma of parathyroid" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of parathyroid gland" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of the parathyroid" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of the parathyroid gland" EXACT [NCIT:C4906]
synonym: "cancer of parathyroid gland" EXACT [NCIT:C4906]
synonym: "cancer of the parathyroid gland" EXACT [NCIT:C4906]
synonym: "carcinoma of parathyroid" EXACT [NCIT:C4906]
synonym: "carcinoma of parathyroid gland" EXACT [DOID:1540, MONDO:patterns/carcinoma, NCIT:C4906]
synonym: "carcinoma of the parathyroid" EXACT [NCIT:C4906]
synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906]
synonym: "malignant neoplasm of parathyroid gland" EXACT [DOID:1540, ICD9CM_2006:194.1]
synonym: "malignant neoplasm of the parathyroid" EXACT [DOID:1540, NCIT:C9322]
synonym: "malignant tumor of parathyroid gland" EXACT EXCLUDE [DOID:1540]
synonym: "neoplasm of parathyroid gland" EXACT EXCLUDE [DOID:1540]
synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906]
synonym: "parathyroid cancer" EXACT [NCIT:C4906]
synonym: "parathyroid cancer, NOS" RELATED EXCLUDE [NCIT:C4906]
synonym: "parathyroid carcinoma" EXACT [NCIT:C4906, OMIM:608266]
synonym: "parathyroid gland adenocarcinoma" EXACT [DOID:1540, NCIT:C4906]
synonym: "parathyroid gland cancer" EXACT [DOID:1540, NCIT:C4906]
synonym: "parathyroid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C4906]
synonym: "parathyroid gland neoplasm" EXACT [DOID:1540, NCIT:C3313]
synonym: "parathyroid neoplasm" EXACT [CSP2005:2009-6398, DOID:1540]
synonym: "PRTC" RELATED [OMIM:608266]
xref: DOID:1540 {source="MONDO:equivalentTo"}
xref: EFO:1000456 {source="MONDO:equivalentTo"}
xref: GARD:0007329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C75.0 {source="DOID:1540", source="ORDO:143/ntbt", source="Orphanet:143"}
xref: ICD9:194.1 {source="MONDO:subClassOf", source="DOID:1540"}
xref: NCIT:C4906 {source="DesignPattern", source="DOID:1540", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.79", source="EFO:1000456"}
xref: OMIM:608266 {source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456", source="ORDO:143/e", source="Orphanet:143"}
xref: ONCOTREE:PTHC {source="MONDO:equivalentTo"}
xref: Orphanet:143 {source="MONDO:equivalentTo", source="OMIM:608266"}
xref: SCTID:255037004 {source="DOID:1540", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="MONDOLEX:0012004", source="NCIT:C4906"} ! adenocarcinoma
is_a: MONDO:0021311 {source="MONDO:Redundant", source="MONDOLEX:0012004", source="NCIT:C4906", source="ONCOTREE:PTHC", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of parathyroid gland
relationship: has_modifier MONDO:0021136 {source="MONDO:0015076"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D010282
property_value: closeMatch http://identifiers.org/snomedct/93943008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030521
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153653
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0687150
property_value: exactMatch DOID:1540
property_value: exactMatch http://identifiers.org/omim/608266
property_value: exactMatch http://identifiers.org/snomedct/255037004
property_value: exactMatch NCIT:C4906
property_value: exactMatch Orphanet:143

[Term]
id: MONDO:0012005
name: growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
synonym: "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT [OMIM:608278]
xref: MESH:C564264 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608278 {source="MONDO:equivalentTo"}
xref: UMLS:C1842321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608278"}
is_a: MONDO:0003847 {source="MESH:C564264/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564264
property_value: exactMatch http://identifiers.org/omim/608278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842321

[Term]
id: MONDO:0012006
name: craniosynostosis with ocular abnormalities and hallucal defects
synonym: "craniosynostosis with ocular abnormalities and hallucal defects" EXACT [OMIM:608279]
xref: MESH:C564263 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608279 {source="MONDO:equivalentTo"}
xref: UMLS:C1842316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608279"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564263", source="MONDOLEX:0012006"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C564263
property_value: exactMatch http://identifiers.org/omim/608279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842316

[Term]
id: MONDO:0012007
name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
synonym: "anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities" RELATED [OMIM:608281]
synonym: "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" EXACT [OMIM:608281]
xref: MESH:C564262 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608281 {source="MONDO:equivalentTo"}
xref: UMLS:C1842315 {source="NCBI:mim2gene_medline", source="OMIM:608281", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C564262
property_value: exactMatch http://identifiers.org/omim/608281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842315

[Term]
id: MONDO:0012008
name: Lelis syndrome
def: "Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." [Orphanet:140936]
subset: gard_rare {source="GARD:0010367"}
subset: ordo_malformation_syndrome {source="Orphanet:140936"}
synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [OMIM:608290]
synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:140936]
synonym: "Lelis syndrome" EXACT [OMIM:608290]
xref: GARD:0010367 {source="MONDO:equivalentTo"}
xref: MESH:C564261 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608290 {source="Orphanet:140936", source="ORDO:140936/e", source="MONDO:equivalentTo"}
xref: Orphanet:140936 {source="OMIM:608290", source="MONDO:equivalentTo"}
xref: SCTID:719429003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1842307 {source="Orphanet:140936", source="OMIM:608290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MESH:C564261", source="MONDOLEX:0012008", source="Orphanet:140936", source="linkedlifedata"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C564261
property_value: exactMatch http://identifiers.org/omim/608290
property_value: exactMatch http://identifiers.org/snomedct/719429003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842307
property_value: exactMatch Orphanet:140936
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome xsd:anyURI {source="GARD:0010367"}

[Term]
id: MONDO:0012009
name: coronary heart disease, susceptibility to, 2
subset: predisposition
synonym: "Chds2" RELATED [OMIM:608316]
synonym: "coronary heart disease, susceptibility to, 2" EXACT [OMIM:608316]
synonym: "coronary heart disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608316]
xref: OMIM:608316 {source="MONDO:equivalentTo"}
xref: UMLS:C1842260 {source="OMIM:608316", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDOLEX:0012009"} ! coronary artery disease
property_value: exactMatch http://identifiers.org/omim/608316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842260

[Term]
id: MONDO:0012010
name: coronary heart disease, susceptibility to, 4
subset: predisposition
synonym: "Chds4" RELATED [OMIM:608318]
synonym: "coronary heart disease, susceptibility to, 4" EXACT [OMIM:608318]
synonym: "coronary heart disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608318]
xref: OMIM:608318 {source="MONDO:equivalentTo"}
xref: UMLS:C1842258 {source="OMIM:608318", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDOLEX:0012010"} ! coronary artery disease
property_value: exactMatch http://identifiers.org/omim/608318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842258

[Term]
id: MONDO:0012011
name: coronary artery disease, autosomal dominant, 1
def: "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCAD1" RELATED [MONDO:Lexical, OMIM:608320]
synonym: "coronary artery disease caused by mutation in MEF2A" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease with myocardial infarction" RELATED [OMIM:608320]
synonym: "coronary artery disease, autosomal dominant, 1" EXACT [MONDO:Lexical, OMIM:608320]
synonym: "coronary artery disease, autosomal dominant, 1; ADCAD1" RELATED [OMIM:608320]
synonym: "coronary artery disease, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:608320]
synonym: "MEF2A coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564258 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608320 {source="MONDO:equivalentTo"}
xref: UMLS:C1842247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608320"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="DC-OMIM:608320", source="MESH:C564258", source="MONDO:Redundant", source="MONDOLEX:0012011"} ! coronary artery disease
property_value: exactMatch http://identifiers.org/mesh/C564258
property_value: exactMatch http://identifiers.org/omim/608320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842247

[Term]
id: MONDO:0012012
name: Charcot-Marie-Tooth disease dominant intermediate c
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs." [Orphanet:100045]
subset: ordo_disease {source="Orphanet:100045"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199]
synonym: "Charcot-Marie-Tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [DOID:0110199, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical, OMIM:608323]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate C; CMTDIC" RELATED [OMIM:608323]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type C" EXACT [MONDORULE:1, OMIM:608323]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT [DOID:0110199]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [OMIM:608323]
synonym: "CMTDIC" EXACT [DOID:0110199, MONDO:Lexical, OMIM:608323, Orphanet:100045]
synonym: "DI-CMTC" EXACT [DOID:0110199]
synonym: "Di-Cmtc" RELATED [OMIM:608323]
synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439]
xref: DOID:0110199 {source="MONDO:equivalentTo"}
xref: GARD:0012439 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:100045", source="ORDO:100045/attributed", source="ORDO:100045/ntbt", source="DOID:0110199"}
xref: MESH:C564257 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608323 {source="ORDO:100045/e", source="Orphanet:100045", source="MONDO:equivalentTo", source="DOID:0110199"}
xref: Orphanet:100045 {source="MONDO:equivalentTo", source="OMIM:608323", source="DOID:0110199"}
xref: SCTID:765746008 {source="MONDO:equivalentTo"}
xref: UMLS:C1842237 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:100045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608323"}
is_a: MONDO:0019548 {source="MONDOLEX:0012012", source="Orphanet:100045"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110199
property_value: exactMatch http://identifiers.org/mesh/C564257
property_value: exactMatch http://identifiers.org/omim/608323
property_value: exactMatch http://identifiers.org/snomedct/765746008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842237
property_value: exactMatch Orphanet:100045

[Term]
id: MONDO:0012013
name: glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
def: "Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term)." [Orphanet:2084]
subset: ordo_malformation_syndrome {source="Orphanet:2084"}
synonym: "GEMSS" RELATED [GARD:0002452]
synonym: "GEMSS syndrome" EXACT [Orphanet:2084]
synonym: "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome" RELATED [GARD:0002452]
synonym: "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" RELATED [OMIM:608328]
synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:608328]
synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:608328]
synonym: "Weill-Marchesani syndrome 2" RELATED [MONDO:Lexical, OMIM:608328]
synonym: "Weill-Marchesani syndrome 2; WMS2" RELATED [OMIM:608328]
synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328]
synonym: "Weill-Marchesani syndrome, autosomal dominant" RELATED [OMIM:608328]
synonym: "WMS2" RELATED [MONDO:Lexical, OMIM:608328]
xref: GARD:0002452 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:2084/attributed", source="ORDO:2084/ntbt", source="Orphanet:2084"}
xref: OMIM:608328 {source="MONDO:equivalentTo", source="ORDO:2084/e", source="Orphanet:2084"}
xref: Orphanet:2084 {source="OMIM:608328", source="MONDO:equivalentTo"}
xref: SCTID:722450007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.71/0.47"}
is_a: MONDO:0018096 {source="DC-OMIM:608328", source="OMIM:608328"} ! Weill-Marchesani syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869115
property_value: exactMatch http://identifiers.org/omim/608328
property_value: exactMatch http://identifiers.org/snomedct/722450007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931588
property_value: exactMatch Orphanet:2084

[Term]
id: MONDO:0012014
name: Charcot-Marie-Tooth disease recessive intermediate a
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." [Orphanet:217055]
subset: ordo_disease {source="Orphanet:217055"}
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201]
synonym: "Charcot-Marie-Tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [DOID:0110201, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical, OMIM:608340]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate A; CMTRIA" RELATED [OMIM:608340]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type a" EXACT [MONDORULE:1, OMIM:608340]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate, A" RELATED [GARD:0012453]
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [DOID:0110201]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [OMIM:608340]
synonym: "CMTRIA" EXACT [DOID:0110201, MONDO:Lexical, OMIM:608340]
synonym: "GDAP1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type A" EXACT [Orphanet:217055]
synonym: "RI-CMTA" EXACT [DOID:0110201]
synonym: "Ri-Cmta" RELATED [OMIM:608340]
xref: DOID:0110201 {source="MONDO:equivalentTo"}
xref: GARD:0012453 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:217055/attributed", source="ORDO:217055/ntbt", source="Orphanet:217055"}
xref: MESH:C564256 {source="MONDO:equivalentTo"}
xref: OMIM:608340 {source="MONDO:equivalentTo", source="ORDO:217055/e", source="Orphanet:217055", source="DOID:0110201"}
xref: Orphanet:217055 {source="MONDO:equivalentTo", source="OMIM:608340", source="DOID:0110201"}
xref: UMLS:C1842197 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608340", source="Orphanet:217055"}
is_a: MONDO:0017058 {source="MONDOLEX:0012014", source="Orphanet:217055"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110201
property_value: exactMatch http://identifiers.org/mesh/C564256
property_value: exactMatch http://identifiers.org/omim/608340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842197
property_value: exactMatch Orphanet:217055

[Term]
id: MONDO:0012015
name: NYS3
synonym: "NYS3" EXACT [MONDO:Lexical, OMIM:608345]
synonym: "NYSTAGMUS 3, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608345]
synonym: "NYSTAGMUS 3, congenital, autosomal dominant; NYS3" RELATED [OMIM:608345]
xref: GARD:0009600 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537855 {source="MONDO:equivalentTo"}
xref: OMIM:608345 {source="MONDO:equivalentTo"}
xref: UMLS:C1842186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608345"}
is_a: MONDO:0005712 {source="DC-OMIM:608345", source="MESH:C537855", source="OMIM:608345"} ! congenital nystagmus
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/mesh/C537855
property_value: exactMatch http://identifiers.org/omim/608345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842186

[Term]
id: MONDO:0012016
name: capillary malformation-arteriovenous malformation syndrome
def: "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." [Orphanet:137667]
subset: gard_rare {source="GARD:0011904"}
subset: ordo_malformation_syndrome {source="Orphanet:137667"}
synonym: "capillary malformation without arteriovenous malformation" RELATED [OMIM:608354]
synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical, OMIM:608354]
synonym: "capillary malformation-arteriovenous malformation; CMAVM" RELATED [OMIM:608354]
synonym: "CM-AVM" EXACT [Orphanet:137667]
synonym: "CM-AVM syndrome" RELATED [GARD:0011904]
synonym: "CMAVM" RELATED [MONDO:Lexical, OMIM:608354]
xref: GARD:0011904 {source="MONDO:equivalentTo"}
xref: ICD10:Q27.3 {source="Orphanet:137667", source="ORDO:137667/attributed", source="ORDO:137667/ntbt"}
xref: ICD9:747.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564254 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:608354 {source="MONDO:equivalentTo"}
xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"}
xref: SCTID:703533007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016229 {source="Orphanet:137667"} ! genetic vascular anomaly
is_a: MONDO:0016231 {source="Orphanet:137667", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842180
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675370
property_value: exactMatch http://identifiers.org/mesh/C564254
property_value: exactMatch http://identifiers.org/snomedct/703533007
property_value: exactMatch Orphanet:137667
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome xsd:anyURI {source="GARD:0011904"}

[Term]
id: MONDO:0012017
name: Parkes Weber syndrome
def: "Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene , andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb." [https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome]
subset: gard_rare {source="GARD:0009787"}
subset: ordo_clinical_subtype {source="Orphanet:90307"}
synonym: "Parkes Weber syndrome" EXACT [OMIM:608355]
synonym: "PARKES WEBER syndrome; PKWS" RELATED [OMIM:608355]
synonym: "Pkws" RELATED [OMIM:608355]
xref: GARD:0009787 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:90307/attributed", source="ORDO:90307/ntbt", source="Orphanet:90307"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:608355 {source="MONDO:equivalentTo", source="ORDO:90307/e", source="Orphanet:90307"}
xref: Orphanet:90307 {source="MONDO:equivalentTo", source="OMIM:608355"}
xref: SCTID:234143003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN074207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN206396 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007864 {source="Orphanet:90307"} ! angioosteohypertrophic syndrome
property_value: exactMatch http://identifiers.org/omim/608355
property_value: exactMatch http://identifiers.org/snomedct/234143003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206396
property_value: exactMatch Orphanet:90307
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome xsd:anyURI {source="GARD:0009787"}

[Term]
id: MONDO:0012018
name: myopathy, myosin storage, autosomal dominant
synonym: "MSMA" RELATED [MONDO:Lexical, OMIM:608358]
synonym: "myopathy with lysis of type 1 myofibrils" RELATED [OMIM:608358]
synonym: "myopathy, hyaline body, autosomal dominant" RELATED [OMIM:608358]
synonym: "myopathy, myosin storage, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608358]
synonym: "myopathy, myosin storage, autosomal dominant; MSMA" RELATED [OMIM:608358]
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564253 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608358 {source="MONDO:equivalentTo"}
xref: SCTID:699267007 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:C1842160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608358"}
is_a: MONDO:0018889 {source="ORDO:53698/btnt"} ! hyaline body myopathy
property_value: exactMatch http://identifiers.org/mesh/C564253
property_value: exactMatch http://identifiers.org/omim/608358
property_value: exactMatch http://identifiers.org/snomedct/699267007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842160

[Term]
id: MONDO:0012019
name: spondyloepiphyseal dysplasia, Kimberley type
def: "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." [Orphanet:93283]
subset: ordo_disease {source="Orphanet:93283"}
synonym: "Sedk" RELATED [OMIM:608361]
synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361]
synonym: "spondyloepiphyseal dysplasia, Kimberley type; SEDK" RELATED [OMIM:608361]
xref: ICD10:Q77.7 {source="ORDO:93283/attributed", source="ORDO:93283/ntbt", source="Orphanet:93283"}
xref: MESH:C564252 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608361 {source="MONDO:equivalentTo", source="ORDO:93283/e", source="Orphanet:93283"}
xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"}
xref: SCTID:719203001 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:93283"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018239 {source="Orphanet:93283"} ! aggrecan-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842149
property_value: exactMatch http://identifiers.org/mesh/C564252
property_value: exactMatch http://identifiers.org/omim/608361
property_value: exactMatch http://identifiers.org/snomedct/719203001
property_value: exactMatch Orphanet:93283

[Term]
id: MONDO:0012020
name: chromosome 22q11.2 microduplication syndrome
def: "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome." [Orphanet:1727]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1727"}
synonym: "22q11.2 duplication" RELATED [GARD:0010557]
synonym: "22q11.2 duplication syndrome" RELATED [GARD:0010557]
synonym: "22q11.2 microduplication syndrome" EXACT [DOID:0060436, GARD:0010557]
synonym: "chromosome 22q11.2 DUPLICATION syndrome" RELATED [OMIM:608363]
synonym: "chromosome 22q11.2 duplication syndrome" RELATED [GARD:0010557]
synonym: "chromosome 22q11.2 microduplication syndrome" EXACT [OMIM:608363]
synonym: "dup(22)(q11)" EXACT [Orphanet:1727]
synonym: "Duplication 22q11.2" EXACT [Orphanet:1727]
synonym: "duplication 22q11.2" EXACT [DOID:0060436]
synonym: "trisomy 22q11.2" EXACT [DOID:0060436, Orphanet:1727]
xref: DOID:0060436 {source="MONDO:equivalentTo"}
xref: GARD:0010557 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="DOID:0060436", source="Orphanet:1727", source="ORDO:1727/attributed", source="ORDO:1727/ntbt"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567224 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608363 {source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727", source="ORDO:1727/e"}
xref: Orphanet:1727 {source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="DOID:0060436"}
xref: SCTID:699311001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C2675369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="Orphanet:1727"}
is_a: MONDO:0000762 {source="DC-OMIM:608363", source="DOID:0060436"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016972 {source="Orphanet:1727"} ! partial duplication of the long arm of chromosome 22
property_value: exactMatch DOID:0060436
property_value: exactMatch http://identifiers.org/mesh/C567224
property_value: exactMatch http://identifiers.org/omim/608363
property_value: exactMatch http://identifiers.org/snomedct/699311001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675369
property_value: exactMatch Orphanet:1727
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome xsd:anyURI {source="GARD:0010557"}

[Term]
id: MONDO:0012021
name: MYP17
synonym: "myopia 17, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608367]
synonym: "myopia 17, autosomal dominant; MYP17" RELATED [OMIM:608367]
synonym: "myopia 4" RELATED [OMIM:608367]
synonym: "myopia 4, formerly" RELATED [OMIM:608367]
synonym: "MYP17" EXACT [MONDO:Lexical, OMIM:608367]
xref: OMIM:608367 {source="MONDO:equivalentTo"}
xref: UMLS:C3888211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:608367", source="OMIM:608367"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2681855
property_value: exactMatch http://identifiers.org/omim/608367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888211

[Term]
id: MONDO:0012022
name: orofacial cleft 4
synonym: "cleft lip with or without cleft palate, nonsyndromic, 4" RELATED [OMIM:608371]
synonym: "OFC4" EXACT [MONDO:Lexical, OMIM:608371]
synonym: "orofacial cleft 4" EXACT [MONDO:Lexical, OMIM:608371]
synonym: "orofacial cleft 4; OFC4" RELATED [OMIM:608371]
xref: MESH:C564251 {source="MONDO:equivalentTo"}
xref: OMIM:608371 {source="MONDO:equivalentTo"}
xref: UMLS:C1842143 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608371"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608371"} ! orofacial cleft
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/mesh/C564251
property_value: exactMatch http://identifiers.org/omim/608371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842143

[Term]
id: MONDO:0012023
name: autosomal dominant nonsyndromic deafness 49
def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23." [DOID:0110572, PMID:14627674]
synonym: "autosomal dominant deafness 49" EXACT [DOID:0110572]
synonym: "autosomal dominant nonsyndromic deafness type 49" EXACT [DOID:0110572, MONDORULE:2]
synonym: "deafness, autosomal dominant 49" RELATED [MONDO:Lexical, OMIM:608372]
synonym: "deafness, autosomal dominant 49; DFNA49" RELATED [OMIM:608372]
synonym: "DFNA49" EXACT [DOID:0110572, MONDO:Lexical, OMIM:608372]
xref: DOID:0110572 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110572"}
xref: MESH:C564250 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608372 {source="MONDO:equivalentTo", source="DOID:0110572"}
xref: UMLS:C1842136 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608372"}
is_a: MONDO:0019587 {source="DC-OMIM:608372", source="DOID:0110572", source="OMIM:608372"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110572
property_value: exactMatch http://identifiers.org/mesh/C564250
property_value: exactMatch http://identifiers.org/omim/608372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842136

[Term]
id: MONDO:0012024
name: retinitis pigmentosa 26
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010397"}
synonym: "CERKL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 26" EXACT [MONDO:Lexical, OMIM:608380]
synonym: "retinitis pigmentosa 26; RP26" RELATED [OMIM:608380]
synonym: "retinitis pigmentosa caused by mutation in CERKL" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 26" EXACT [DOID:0110368, MONDORULE:2, OMIM:608380]
synonym: "RP 26" RELATED [GARD:0010397]
synonym: "RP26" EXACT [DOID:0110368, MONDO:Lexical, OMIM:608380]
xref: DOID:0110368 {source="MONDO:equivalentTo"}
xref: GARD:0010397 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110368", source="MONDO:relatedTo"}
xref: MESH:C564249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608380 {source="DOID:0110368", source="MONDO:equivalentTo"}
xref: UMLS:C1842127 {source="NCBI:mim2gene_medline", source="OMIM:608380", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:608380", source="DOID:0110368", source="MESH:C564249", source="MONDO:Redundant", source="OMIM:608380"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110368
property_value: exactMatch http://identifiers.org/mesh/C564249
property_value: exactMatch http://identifiers.org/omim/608380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842127
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26 xsd:anyURI {source="GARD:0010397"}

[Term]
id: MONDO:0012025
name: branchiootic syndrome 3
def: "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "bo syndrome 3" RELATED [OMIM:608389]
synonym: "BOS3" RELATED [MONDO:Lexical, OMIM:608389]
synonym: "branchiootic syndrome 3" EXACT [MONDO:Lexical, OMIM:608389]
synonym: "branchiootic syndrome 3; BOS3" RELATED [OMIM:608389]
synonym: "branchiootic syndrome caused by mutation in SIX1" EXACT [MONDO:design_pattern]
synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1, OMIM:608389]
synonym: "SIX1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C564248 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608389 {source="MONDO:equivalentTo"}
xref: UMLS:C1842124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608389"}
is_a: MONDO:0018878 {source="DC-OMIM:608389", source="MONDO:Redundant"} ! branchiootic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564248
property_value: exactMatch http://identifiers.org/omim/608389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842124

[Term]
id: MONDO:0012026
name: obsolete myotonia, potassium-aggravated
is_obsolete: true
replaced_by: MONDO:0018959

[Term]
id: MONDO:0012027
name: AIS2
subset: predisposition
synonym: "AIS2" EXACT [MONDO:Lexical, OMIM:608391]
synonym: "autoimmune disease susceptibility locus, chromosome 7-related" RELATED [OMIM:608391]
synonym: "autoimmune disease, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:608391]
synonym: "autoimmune disease, susceptibility to, 2; AIS2" RELATED [OMIM:608391]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 3" RELATED [OMIM:608391]
xref: OMIM:608391 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DC-OMIM:608391", source="OMIM:608391"} ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842113
property_value: exactMatch http://identifiers.org/omim/608391

[Term]
id: MONDO:0012028
name: AIS3
subset: predisposition
synonym: "AIS3" EXACT [MONDO:Lexical, OMIM:608392]
synonym: "autoimmune disease susceptibility locus, chromosome 8-related" RELATED [OMIM:608392]
synonym: "autoimmune disease, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608392]
synonym: "autoimmune disease, susceptibility to, 3; AIS3" RELATED [OMIM:608392]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 4" RELATED [OMIM:608392]
xref: OMIM:608392 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DC-OMIM:608392", source="OMIM:608392"} ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842112
property_value: exactMatch http://identifiers.org/omim/608392

[Term]
id: MONDO:0012029
name: microcephaly 6, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CENPJ" EXACT [MONDO:design_pattern]
synonym: "CENPJ autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH6" RELATED [MONDO:Lexical, OMIM:608393]
synonym: "microcephaly 6, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608393]
synonym: "microcephaly 6, primary, autosomal recessive; MCPH6" RELATED [OMIM:608393]
xref: DOID:0070290 {source="MONDO:equivalentTo"}
xref: MESH:C564247 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608393 {source="MONDO:equivalentTo"}
xref: UMLS:C1842109 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608393"}
is_a: MONDO:0016660 {source="DC-OMIM:608393", source="MONDO:Redundant", source="OMIM:608393"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070290
property_value: exactMatch http://identifiers.org/mesh/C564247
property_value: exactMatch http://identifiers.org/omim/608393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842109

[Term]
id: MONDO:0012030
name: autosomal dominant nonsyndromic deafness 43
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12." [DOID:0110568, PMID:12676899]
synonym: "autosomal dominant deafness 43" EXACT [DOID:0110568]
synonym: "autosomal dominant nonsyndromic deafness type 43" EXACT [DOID:0110568, MONDORULE:2]
synonym: "deafness, autosomal dominant 43" RELATED [MONDO:Lexical, OMIM:608394]
synonym: "deafness, autosomal dominant 43; DFNA43" RELATED [OMIM:608394]
synonym: "DFNA43" EXACT [DOID:0110568, MONDO:Lexical, OMIM:608394]
xref: DOID:0110568 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110568"}
xref: MESH:C564246 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608394 {source="DOID:0110568", source="MONDO:equivalentTo"}
xref: UMLS:C1842108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608394"}
is_a: MONDO:0019587 {source="DC-OMIM:608394", source="DOID:0110568", source="OMIM:608394"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110568
property_value: exactMatch http://identifiers.org/mesh/C564246
property_value: exactMatch http://identifiers.org/omim/608394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842108

[Term]
id: MONDO:0012031
name: platelet-type bleeding disorder 10
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDPLT10" EXACT [DOID:0111046]
synonym: "bleeding disorder, Platelet-type, 10" RELATED [OMIM:608404]
synonym: "CD36 deficiency" EXACT [DOID:0111046]
synonym: "CD36 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in CD36" EXACT [MONDO:design_pattern]
synonym: "platelet glycoprotein 4 deficiency" RELATED [OMIM:608404]
synonym: "platelet glycoprotein IV deficiency" EXACT [DOID:0111046]
xref: DOID:0111046 {source="MONDO:equivalentTo"}
xref: MESH:C564245 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608404 {source="MONDO:equivalentTo", source="DOID:0111046"}
xref: UMLS:C1842090 {source="OMIM:608404", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="DC-OMIM:608404", source="MONDO:Redundant", source="MONDOLEX:0012031", source="OMIM:608404"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch DOID:0111046
property_value: exactMatch http://identifiers.org/mesh/C564245
property_value: exactMatch http://identifiers.org/omim/608404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842090

[Term]
id: MONDO:0012032
name: Braddock syndrome
def: "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." [Orphanet:52047]
subset: ordo_malformation_syndrome {source="Orphanet:52047"}
synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406]
synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047]
xref: ICD10:Q87.8 {source="Orphanet:52047", source="ORDO:52047/attributed", source="ORDO:52047/ntbt"}
xref: MESH:C564244 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="ORDO:52047/e"}
xref: Orphanet:52047 {source="OMIM:608406", source="MONDO:equivalentTo"}
xref: SCTID:720575002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1842082 {source="OMIM:608406", source="Orphanet:52047", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4303988 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015512 ! genetic hypertension
is_a: MONDO:0017159 {source="Orphanet:52047"} ! syndrome with pulmonary hypertension as a major feature
is_a: MONDO:0043008 {source="Orphanet:52047"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C564244
property_value: exactMatch http://identifiers.org/omim/608406
property_value: exactMatch http://identifiers.org/snomedct/720575002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303988
property_value: exactMatch Orphanet:52047

[Term]
id: MONDO:0012033
name: bradyopsia
def: "Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." [Orphanet:75374]
subset: gard_rare {source="GARD:0012299"}
subset: ordo_disease {source="Orphanet:75374"}
synonym: "bradyopsia" EXACT [OMIM:608415]
synonym: "PERRS" EXACT [MONDO:Lexical, OMIM:608415, Orphanet:75374]
synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374]
synonym: "prolonged electroretinal response suppression; PERRS" RELATED [OMIM:608415]
xref: DOID:0050335 {source="MONDO:equivalentTo"}
xref: GARD:0012299 {source="MONDO:equivalentTo"}
xref: ICD10:H53.8 {source="ORDO:75374/attributed", source="ORDO:75374/ntbt", source="Orphanet:75374"}
xref: ICD9:368.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608415 {source="DOID:0050335", source="MONDO:equivalentTo", source="ORDO:75374/e", source="Orphanet:75374"}
xref: Orphanet:75374 {source="OMIM:608415", source="DOID:0050335", source="MONDO:equivalentTo"}
xref: SCTID:711163009 {source="DOID:0050335", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
is_a: MONDO:0020238 {source="Orphanet:75374"} ! inherited vitreous-retinal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842073
property_value: exactMatch DOID:0050335
property_value: exactMatch http://identifiers.org/mesh/C564243
property_value: exactMatch http://identifiers.org/omim/608415
property_value: exactMatch http://identifiers.org/snomedct/711163009
property_value: exactMatch Orphanet:75374
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12299/bradyopsia xsd:anyURI {source="GARD:0012299"}

[Term]
id: MONDO:0012034
name: autosomal dominant limb-girdle muscular dystrophy type 1F
def: "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." [Orphanet:55595]
subset: ordo_disease {source="Orphanet:55595"}
synonym: "LGMD1F" EXACT [DOID:0110304, MONDO:Lexical, OMIM:608423, Orphanet:55595]
synonym: "limb-girdle muscular dystrophy type 1F" RELATED [GARD:0012530]
synonym: "muscular dystrophy limb-girdle type 1F" EXACT [DOID:0110304]
synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423]
synonym: "muscular dystrophy, limb-girdle, type 1F; LGMD1F" RELATED [OMIM:608423]
xref: DOID:0110304 {source="MONDO:equivalentTo"}
xref: GARD:0012530 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:55595/inclusion", source="ORDO:55595/ntbt", source="DOID:0110304", source="Orphanet:55595"}
xref: MESH:C564242 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608423 {source="DOID:0110304", source="MONDO:equivalentTo", source="ORDO:55595/e", source="Orphanet:55595"}
xref: Orphanet:55595 {source="DOID:0110304", source="MONDO:equivalentTo", source="OMIM:608423"}
xref: SCTID:719989007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0015151 {source="DOID:0110304", source="MONDOLEX:0012034", source="OMIM:608423", source="Orphanet:55595"} ! autosomal dominant limb-girdle muscular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842062
property_value: exactMatch DOID:0110304
property_value: exactMatch http://identifiers.org/mesh/C564242
property_value: exactMatch http://identifiers.org/omim/608423
property_value: exactMatch http://identifiers.org/snomedct/719989007
property_value: exactMatch Orphanet:55595

[Term]
id: MONDO:0012035
name: craniosynostosis-intracranial calcifications syndrome
def: "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis (see this term), characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." [Orphanet:52054]
subset: ordo_malformation_syndrome {source="Orphanet:52054"}
synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432]
synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054]
xref: ICD10:Q87.0 {source="ORDO:52054/attributed", source="ORDO:52054/ntbt", source="Orphanet:52054"}
xref: MESH:C564241 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608432 {source="MONDO:equivalentTo", source="ORDO:52054/e", source="Orphanet:52054"}
xref: Orphanet:52054 {source="MONDO:equivalentTo", source="OMIM:608432"}
xref: SCTID:720816004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C1842058 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608432"}
is_a: MONDO:0015338 {source="Orphanet:52054"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C564241
property_value: exactMatch http://identifiers.org/omim/608432
property_value: exactMatch http://identifiers.org/snomedct/720816004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842058
property_value: exactMatch Orphanet:52054

[Term]
id: MONDO:0012036
name: systemic lupus erythematosus, susceptibility to, 4
subset: predisposition
synonym: "SLEB4" EXACT [MONDO:Lexical, OMIM:608437]
synonym: "systemic lupus erythematosus, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:608437]
synonym: "systemic lupus erythematosus, susceptibility to, 4; SLEB4" EXACT [OMIM:608437]
xref: OMIM:608437 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842057
property_value: exactMatch http://identifiers.org/omim/608437

[Term]
id: MONDO:0012037
name: intellectual disability, autosomal recessive 3
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A" EXACT [MONDO:design_pattern]
synonym: "CC2D1A autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 3" EXACT [MONDO:Lexical, OMIM:608443]
synonym: "mental retardation, autosomal recessive 3; MRT3" EXACT [OMIM:608443]
synonym: "mental retardation, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:608443]
synonym: "MRT3" EXACT [MONDO:Lexical, OMIM:608443]
xref: MESH:C563929 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608443 {source="MONDO:equivalentTo"}
xref: UMLS:C1838023 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608443"}
is_a: MONDO:0019502 {source="DC-OMIM:608443", source="MONDO:Redundant", source="OMIM:608443"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C563929
property_value: exactMatch http://identifiers.org/omim/608443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838023

[Term]
id: MONDO:0012038
name: speech-sound disorder
synonym: "speech-sound disorder" EXACT [OMIM:608445]
synonym: "SSD" RELATED [OMIM:608445]
xref: MESH:C563928 {source="MONDO:equivalentTo"}
xref: OMIM:608445 {source="MONDO:equivalentTo"}
xref: UMLS:C4078288 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838022
property_value: exactMatch http://identifiers.org/mesh/C563928
property_value: exactMatch http://identifiers.org/omim/608445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4078288

[Term]
id: MONDO:0012039
name: myocardial infarction, susceptibility to
subset: predisposition
synonym: "myocardial infarction, protection against" RELATED [OMIM:608446]
synonym: "myocardial infarction, susceptibility to" EXACT [OMIM:608446]
synonym: "myocardial infarction, susceptibility to, 1" RELATED [OMIM:608446]
synonym: "susceptibility to myocardial infarction" RELATED [OMIM:608446]
xref: OMIM:608446 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:608446"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005068 ! myocardial infarction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832662
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838021
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277063
property_value: exactMatch http://identifiers.org/omim/608446

[Term]
id: MONDO:0012040
name: inflammatory bowel disease 9
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26." [DOID:0110886, PMID:12354785]
synonym: "IBD9" EXACT [DOID:0110886, MONDO:Lexical, OMIM:608448]
synonym: "inflammatory bowel disease 9" EXACT [MONDO:Lexical, OMIM:608448]
synonym: "inflammatory bowel disease 9; IBD9" RELATED [OMIM:608448]
synonym: "inflammatory bowel disease type 9" EXACT [DOID:0110886, MONDORULE:1]
xref: DOID:0110886 {source="MONDO:equivalentTo"}
xref: MESH:C563926 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608448 {source="DOID:0110886", source="MONDO:equivalentTo"}
xref: UMLS:C1838019 {source="OMIM:608448", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:608448", source="DOID:0110886", source="MESH:C563926", source="OMIM:608448"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110886
property_value: exactMatch http://identifiers.org/mesh/C563926
property_value: exactMatch http://identifiers.org/omim/608448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838019

[Term]
id: MONDO:0012041
name: MUTYH-related attenuated familial adenomatous polyposis
def: "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." [NCIT:C96520]
subset: clingen
subset: gard_rare {source="GARD:0010805"}
subset: ordo_clinical_subtype {source="Orphanet:247798"}
synonym: "adenomas, multiple colorectal, autosomal recessive" RELATED [OMIM:608456]
synonym: "autosomal recessive familial adenomatous polyposis" RELATED [GARD:0010805]
synonym: "autosomal recessive multiple colorectal adenomas" RELATED [GARD:0010805]
synonym: "colorectal adenomatous polyposis, autosomal recessive" RELATED [OMIM:608456]
synonym: "familial adenomatous polyposis 2" RELATED [OMIM:608456]
synonym: "familial adenomatous polyposis 2; FAP2" RELATED [OMIM:608456]
synonym: "familial adenomatous polyposis, 2" RELATED [MONDO:Lexical, OMIM:608456]
synonym: "familial adenomatous polyposis, 2; FAP2" RELATED [OMIM:608456]
synonym: "familial adenomatous polyposis, type 2" EXACT [MONDORULE:1, OMIM:608456]
synonym: "FAP2" RELATED [MONDO:Lexical, OMIM:608456]
synonym: "MAP" EXACT [NCIT:C96520]
synonym: "MAP syndrome" RELATED [GARD:0010805]
synonym: "MUTYH-associated polyposis" EXACT [NCIT:C96520]
synonym: "MUTYH-related AFAP" EXACT [Orphanet:247798]
synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:247798]
synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798]
synonym: "MYH-associated polyposis" RELATED [GARD:0010805]
xref: GARD:0010805 {source="MONDO:equivalentTo"}
xref: ICD10:D12.6 {source="Orphanet:247798", source="ORDO:247798/attributed", source="ORDO:247798/ntbt"}
xref: MESH:C563924 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C96520 {source="MONDO:equivalentTo"}
xref: OMIM:608456 {source="Orphanet:247798", source="ORDO:247798/e", source="MONDO:equivalentTo"}
xref: Orphanet:247798 {source="MONDO:equivalentTo", source="OMIM:608456"}
xref: UMLS:C1837991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608456"}
is_a: MONDO:0006025 {source="HPO:TAS", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016362 {source="Orphanet:247798"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:608456"} ! classic familial adenomatous polyposis
property_value: exactMatch http://identifiers.org/mesh/C563924
property_value: exactMatch http://identifiers.org/omim/608456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837991
property_value: exactMatch NCIT:C96520
property_value: exactMatch Orphanet:247798
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis xsd:anyURI {source="GARD:0010805"}

[Term]
id: MONDO:0012042
name: HSCR8
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:608462]
synonym: "Hirschsprung disease, susceptibility to, 8; HSCR8" RELATED [OMIM:608462]
synonym: "HSCR8" EXACT [MONDO:Lexical, OMIM:608462]
xref: OMIM:608462 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969482
property_value: exactMatch http://identifiers.org/omim/608462

[Term]
id: MONDO:0012043
name: Reis-Bucklers corneal dystrophy
def: "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." [Orphanet:98961]
subset: ordo_disease {source="Orphanet:98961"}
synonym: "anterior limiting membrane dystrophy type 1" EXACT [Orphanet:98961]
synonym: "anterior limiting membrane dystrophy type I" EXACT [DOID:0060453, Orphanet:98961]
synonym: "atypical granular corneal dystrophy" EXACT [Orphanet:98961]
synonym: "CDB1" RELATED [GARD:0009276]
synonym: "CDRB" RELATED [MONDO:Lexical, OMIM:608470]
synonym: "corneal dystrophy geographic" RELATED [GARD:0009276]
synonym: "corneal dystrophy of Bowman layer type 1" EXACT [Orphanet:98961]
synonym: "corneal dystrophy of Bowman layer type I" EXACT [DOID:0060453, Orphanet:98961]
synonym: "corneal dystrophy of Bowman Layer, type 1" RELATED [OMIM:608470]
synonym: "corneal dystrophy Reis Bucklers type" RELATED [GARD:0009276]
synonym: "corneal dystrophy, geographic" RELATED [OMIM:608470]
synonym: "corneal dystrophy, REIS-Bucklers type" RELATED [MONDO:Lexical, OMIM:608470]
synonym: "corneal dystrophy, REIS-Bucklers type; CDRB" RELATED [OMIM:608470]
synonym: "geographic corneal dystrophy" EXACT [DOID:0060453, Orphanet:98961]
synonym: "granular corneal dystrophy type 3" EXACT [Orphanet:98961]
synonym: "granular corneal dystrophy type III" EXACT [DOID:0060453, Orphanet:98961]
synonym: "granular corneal dystrophy, type 3" RELATED [OMIM:608470]
synonym: "RBCD" EXACT [DOID:0060453, Orphanet:98961]
synonym: "Reis Bucklers corneal dystrophy" RELATED [GARD:0009276]
synonym: "Reis Bucklers dystrophy" RELATED [GARD:0009276]
synonym: "Reis-Bucklers corneal dystrophy" EXACT [OMIM:608470]
synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961]
synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961]
xref: DOID:0060453 {source="MONDO:equivalentTo"}
xref: GARD:0009276 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H18.5 {source="Orphanet:98961", source="ORDO:98961/attributed", source="ORDO:98961/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:98961/e"}
xref: OMIM:608470 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="ORDO:98961/e"}
xref: Orphanet:98961 {source="DOID:0060453", source="MONDO:equivalentTo", source="OMIM:608470"}
xref: SCTID:231930000 {source="DOID:0060453", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0339278 {source="Orphanet:98961", source="DOID:0060453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608470", source="ORDO:98961/e"}
is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy
property_value: exactMatch DOID:0060453
property_value: exactMatch http://identifiers.org/mesh/C535476
property_value: exactMatch http://identifiers.org/omim/608470
property_value: exactMatch http://identifiers.org/snomedct/231930000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339278
property_value: exactMatch Orphanet:98961

[Term]
id: MONDO:0012044
name: corneal dystrophy, lattice type 3A
def: "Lattice corneal dystrophy type 3A is rare condition that affects the cornea . It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes ( mutations ) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically." [GARD:0010320]
subset: gard_rare
synonym: "CDL3A" RELATED [MONDO:Lexical, OMIM:608471]
synonym: "corneal dystrophy, lattice type IIIA" RELATED [MONDO:Lexical, OMIM:608471]
synonym: "corneal dystrophy, lattice type IIIA; CDL3A" RELATED [OMIM:608471]
synonym: "lattice corneal dystrophy type 3A" RELATED [GARD:0010320]
synonym: "lattice corneal dystrophy type III A" RELATED [GARD:0010320]
synonym: "lattice corneal dystrophy, type 3A" RELATED [OMIM:608471]
xref: GARD:0010320 {source="MONDO:equivalentTo"}
xref: MESH:C563923 {source="MONDO:equivalentTo"}
xref: OMIM:608471 {source="GARD:0010320", source="MONDO:equivalentTo"}
xref: UMLS:C1837974 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608471"}
is_a: MONDO:0000764 ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0004686 ! lattice corneal dystrophy (disease)
relationship: excluded_subClassOf MONDO:0007380 {source="ORDO:98964/btnt"} ! lattice corneal dystrophy type I
property_value: exactMatch http://identifiers.org/mesh/C563923
property_value: exactMatch http://identifiers.org/omim/608471
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837974
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a xsd:anyURI {source="GARD:0010320"}

[Term]
id: MONDO:0012045
name: MYP5
synonym: "myopia 5, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608474]
synonym: "myopia 5, autosomal dominant; MYP5" RELATED [OMIM:608474]
synonym: "MYP5" EXACT [MONDO:Lexical, OMIM:608474]
xref: MESH:C563922 {source="MONDO:equivalentTo"}
xref: OMIM:608474 {source="MONDO:equivalentTo"}
xref: UMLS:C1837972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608474"}
is_a: MONDO:0001384 {source="DC-OMIM:608474", source="MESH:C563922", source="OMIM:608474"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563922
property_value: exactMatch http://identifiers.org/omim/608474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837972

[Term]
id: MONDO:0012046
name: congenital corneal opacities, cornea guttata, and corectopia
synonym: "congenital corneal opacities, cornea guttata, and corectopia" EXACT [OMIM:608484]
synonym: "corneal opacities, congenital, with cornea guttata and corectopia" RELATED [OMIM:608484]
xref: MESH:C563921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608484 {source="MONDO:equivalentTo"}
xref: UMLS:C1837970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608484"}
is_a: MONDO:0005349 ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: exactMatch http://identifiers.org/mesh/C563921
property_value: exactMatch http://identifiers.org/omim/608484
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837970

[Term]
id: MONDO:0012047
name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia
synonym: "alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia" RELATED [OMIM:608509]
xref: MESH:C563920 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608509 {source="MONDO:equivalentTo"}
xref: UMLS:C1837946 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608509"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563920
property_value: exactMatch http://identifiers.org/omim/608509
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837946

[Term]
id: MONDO:0012048
name: endogenous depression
def: "Depression which is considered strictly biological." [NCIT:P378]
synonym: "clinical depression" RELATED [CSP2005:2483-6681, DOID:1595]
synonym: "MAJOR depressive disorder" RELATED [MONDO:Lexical, OMIM:608516]
synonym: "MAJOR depressive disorder; MDD" RELATED [OMIM:608516]
synonym: "MDD" RELATED [MONDO:Lexical, OMIM:608516]
synonym: "unipolar depression" RELATED [DOID:1595, OMIM:608516]
xref: DOID:1595 {source="MONDO:equivalentTo"}
xref: NCIT:C34532 {source="DOID:1595", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.12"}
xref: OMIM:608516 {source="DOID:1595", source="MONDO:equivalentTo"}
xref: SCTID:300706003 {source="DOID:1595", source="MONDO:kboom-pr-0.96/0.91/0.12", source="MONDO:equivalentTo"}
is_a: MONDO:0002009 {source="DC-OMIM:608516", source="DOID:1595", source="MONDOLEX:0012048"} ! major depressive disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/154873003
property_value: closeMatch http://identifiers.org/snomedct/191599006
property_value: closeMatch http://identifiers.org/snomedct/231498003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011573
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041696
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085159
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1269683
property_value: exactMatch DOID:1595
property_value: exactMatch http://identifiers.org/omim/608516
property_value: exactMatch http://identifiers.org/snomedct/300706003
property_value: exactMatch NCIT:C34532

[Term]
id: MONDO:0012049
name: orofaciodigital syndrome VII
synonym: "OFD7" EXACT [DOID:0060377, MONDO:Lexical, OMIM:608518]
synonym: "Ofds 7" RELATED [OMIM:608518]
synonym: "oral-Facial-digital syndrome, type 7" RELATED [OMIM:608518]
synonym: "orofaciodigital syndrome 7" RELATED [OMIM:608518]
synonym: "orofaciodigital syndrome type 7" EXACT [MONDORULE:1, OMIM:608518]
synonym: "orofaciodigital syndrome type VII" EXACT [DOID:0060377, MONDORULE:3]
synonym: "orofaciodigital syndrome VII" EXACT [MONDO:Lexical, OMIM:608518]
synonym: "orofaciodigital syndrome VII; OFD7" RELATED [OMIM:608518]
synonym: "Whelan syndrome" EXACT [DOID:0060377, OMIM:608518]
xref: DOID:0060377 {source="MONDO:equivalentTo"}
xref: MESH:C563104 {source="DOID:0060377", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608518 {source="DOID:0060377", source="MONDO:equivalentTo"}
xref: Orphanet:90649 {source="OMIM:608518", source="DOID:0060377", source="MONDO:equivalentTo"}
xref: UMLS:C0796100 {source="OMIM:608518", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN206429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="DC-OMIM:608518", source="DOID:0060377", source="MESH:C563104"} ! orofaciodigital syndrome
property_value: exactMatch DOID:0060377
property_value: exactMatch http://identifiers.org/mesh/C563104
property_value: exactMatch http://identifiers.org/omim/608518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206429
property_value: exactMatch Orphanet:90649

[Term]
id: MONDO:0012050
name: major depressive disorder 1
synonym: "major depressive disorder 1" EXACT [OMIM:608520]
synonym: "major depressive disorder type 1" EXACT [MONDORULE:1, OMIM:608520]
synonym: "MDD1" RELATED [OMIM:608520]
synonym: "unipolar depression 1" RELATED [OMIM:608520]
xref: MESH:C563919 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608520 {source="MONDO:equivalentTo"}
xref: UMLS:C1837929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608520"}
is_a: MONDO:0002009 {source="DC-OMIM:608520", source="MESH:C563919", source="MONDOLEX:0012050"} ! major depressive disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563919
property_value: exactMatch http://identifiers.org/omim/608520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837929

[Term]
id: MONDO:0012051
name: periodontitis, aggressive, 2
synonym: "periodontitis, aggressive, 2" EXACT [OMIM:608526]
synonym: "periodontitis, aggressive, type 2" EXACT [MONDORULE:1, OMIM:608526]
xref: MESH:C566946 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608526 {source="MONDO:equivalentTo"}
xref: UMLS:C1969478 {source="OMIM:608526", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008226 ! aggressive periodontitis
property_value: exactMatch http://identifiers.org/mesh/C566946
property_value: exactMatch http://identifiers.org/omim/608526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969478

[Term]
id: MONDO:0012052
name: ALG1-CDG
def: "(16p13.3)." [Orphanet:79327]
subset: ordo_disease {source="Orphanet:79327"}
synonym: "ALG1-CDG (CDG-Ik)" RELATED [GARD:0009838]
synonym: "carbohydrate deficient glycoprotein syndrome type Ik" EXACT [Orphanet:79327]
synonym: "CDG 1K" RELATED [GARD:0009838]
synonym: "CDG Ik" RELATED [OMIM:608540]
synonym: "CDG syndrome type Ik" EXACT [Orphanet:79327]
synonym: "CDG-Ik" EXACT [Orphanet:79327]
synonym: "CDG1K" EXACT [MONDO:Lexical, OMIM:608540, Orphanet:79327]
synonym: "congenital disorder of glycosylation type 1k" EXACT [Orphanet:79327]
synonym: "congenital disorder of glycosylation type Ik" EXACT [Orphanet:79327]
synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, OMIM:608540]
synonym: "congenital disorder of glycosylation, type Ik; CDG1K" RELATED [OMIM:608540]
synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327]
xref: GARD:0009838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79327", source="ORDO:79327/attributed", source="ORDO:79327/ntbt"}
xref: MESH:C535749 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="ORDO:79327/e"}
xref: Orphanet:79327 {source="MONDO:equivalentTo", source="OMIM:608540"}
xref: SCTID:720941007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
xref: UMLS:C2931005 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79327", source="MONDO:equivalentTo", source="OMIM:608540"}
is_a: MONDO:0005500 {source="DC-OMIM:608540", source="MONDOLEX:0012052"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:79327"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:79327"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837896
property_value: exactMatch http://identifiers.org/mesh/C535749
property_value: exactMatch http://identifiers.org/omim/608540
property_value: exactMatch http://identifiers.org/snomedct/720941007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931005
property_value: exactMatch Orphanet:79327

[Term]
id: MONDO:0012053
name: ANIB2
synonym: "aneurysm, intracranial BERRY, 2" RELATED [MONDO:Lexical, OMIM:608542]
synonym: "aneurysm, intracranial BERRY, 2; ANIB2" RELATED [OMIM:608542]
synonym: "ANIB2" EXACT [MONDO:Lexical, OMIM:608542]
xref: GARD:0010033 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536360 {source="MONDO:equivalentTo"}
xref: OMIM:608542 {source="MONDO:equivalentTo"}
xref: UMLS:C1837894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608542"}
is_a: MONDO:0016483 {source="DC-OMIM:608542", source="OMIM:608542"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C536360
property_value: exactMatch http://identifiers.org/omim/608542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837894

[Term]
id: MONDO:0012054
name: schizophrenia 12
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2." [DOID:0070088]
synonym: "schizophrenia 12" EXACT [OMIM:608543]
synonym: "schizophrenia susceptibility locus, chromosome 1P-related" RELATED [OMIM:608543]
synonym: "schizophrenia type 12" EXACT [MONDORULE:2, OMIM:608543]
synonym: "SCZD12" EXACT [DOID:0070088]
synonym: "Sczd12" RELATED [OMIM:608543]
xref: DOID:0070088 {source="MONDO:equivalentTo"}
xref: OMIM:608543 {source="DOID:0070088", source="MONDO:equivalentTo"}
xref: UMLS:C1837893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608543"}
is_a: MONDO:0005090 {source="DC-OMIM:608543", source="DOID:0070088"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070088
property_value: exactMatch http://identifiers.org/omim/608543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837893

[Term]
id: MONDO:0012055
name: Larsen-like osseous dysplasia-short stature syndrome
def: "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." [Orphanet:2370]
subset: ordo_malformation_syndrome {source="Orphanet:2370"}
synonym: "Larsen-like syndrome" RELATED [OMIM:608545]
synonym: "Lrsl" RELATED [OMIM:608545]
xref: ICD10:Q74.8 {source="ORDO:2370/attributed", source="ORDO:2370/ntbt", source="Orphanet:2370"}
xref: MESH:C563914 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608545 {source="MONDO:equivalentTo", source="ORDO:2370/e", source="Orphanet:2370"}
xref: Orphanet:2370 {source="MONDO:equivalentTo", source="OMIM:608545"}
xref: UMLS:C1837884 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608545"}
is_a: MONDO:0019700 {source="Orphanet:2370"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C563914
property_value: exactMatch http://identifiers.org/omim/608545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837884
property_value: exactMatch Orphanet:2370

[Term]
id: MONDO:0012056
name: Leber congenital amaurosis 9
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009491"}
synonym: "amaurosis congenita of Leber, type 9" RELATED [GARD:0009491]
synonym: "LCA9" EXACT [DOID:0110005, MONDO:Lexical, OMIM:608553]
synonym: "Leber congenital amaurosis 9" EXACT [MONDO:Lexical, OMIM:608553]
synonym: "Leber congenital amaurosis 9; LCA9" RELATED [OMIM:608553]
synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 9" EXACT [DOID:0110005, MONDORULE:1, OMIM:608553]
synonym: "NMNAT1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110005 {source="MONDO:equivalentTo"}
xref: GARD:0009491 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110005", source="MONDO:relatedTo"}
xref: MESH:C536603 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608553 {source="DOID:0110005", source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="DC-OMIM:608553", source="DOID:0110005", source="MESH:C536603", source="MONDO:Redundant", source="OMIM:608553"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837873
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931261
property_value: exactMatch DOID:0110005
property_value: exactMatch http://identifiers.org/mesh/C536603
property_value: exactMatch http://identifiers.org/omim/608553
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9 xsd:anyURI {source="GARD:0009491"}

[Term]
id: MONDO:0012057
name: legionnaire disease, susceptibility to
subset: predisposition
synonym: "Legionella infection" RELATED [GARD:0006876]
synonym: "legionnaire disease, susceptibility to" EXACT [OMIM:608556]
synonym: "legionnaire's disease" RELATED [GARD:0006876]
synonym: "susceptibility to legionnaire disease" RELATED [OMIM:608556]
xref: GARD:0006876 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:608556 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005824 ! Legionnaires' disease
relationship: predisposes_towards MONDO:0005824 ! Legionnaires' disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837872
property_value: exactMatch http://identifiers.org/omim/608556

[Term]
id: MONDO:0012058
name: myocardial infarction, susceptibility to, 2
subset: predisposition
synonym: "Mci2" RELATED [OMIM:608557]
synonym: "myocardial infarction, susceptibility to, 2" EXACT [OMIM:608557]
synonym: "myocardial infarction, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608557]
xref: OMIM:608557 {source="MONDO:equivalentTo"}
xref: UMLS:C1837871 {source="OMIM:608557", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005068 {source="DC-OMIM:608557"} ! myocardial infarction (disease)
property_value: exactMatch http://identifiers.org/omim/608557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837871

[Term]
id: MONDO:0012059
name: polydactyly, postaxial, type A4
synonym: "Papa4" RELATED [OMIM:608562]
synonym: "polydactyly, postaxial, type A4" EXACT [OMIM:608562]
synonym: "postaxial polydactyly, type A4" RELATED [OMIM:608562]
xref: MESH:C563909 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608562 {source="MONDO:equivalentTo"}
xref: UMLS:C1837868 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608562"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/mesh/C563909
property_value: exactMatch http://identifiers.org/omim/608562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837868

[Term]
id: MONDO:0012060
name: autosomal recessive nonsyndromic deafness 35
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 35" EXACT [DOID:0110493]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 35" EXACT [DOID:0110493, MONDORULE:2]
synonym: "deafness, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:608565]
synonym: "deafness, autosomal recessive 35; DFNB35" RELATED [OMIM:608565]
synonym: "deafness, autosomal recessive type 35" EXACT [MONDORULE:2, OMIM:608565]
synonym: "DFNB35" EXACT [DOID:0110493, MONDO:Lexical, OMIM:608565]
synonym: "ESRRB autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110493 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110493"}
xref: MESH:C563908 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608565 {source="MONDO:equivalentTo", source="DOID:0110493"}
xref: UMLS:C1837857 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608565"}
is_a: MONDO:0019588 {source="DC-OMIM:608565", source="DOID:0110493", source="MONDO:Redundant", source="OMIM:608565"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110493
property_value: exactMatch http://identifiers.org/mesh/C563908
property_value: exactMatch http://identifiers.org/omim/608565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837857

[Term]
id: MONDO:0012061
name: familial sick sinus syndrome
def: "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." [Orphanet:166282]
subset: ordo_disease {source="Orphanet:166282"}
synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282]
synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary]
synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567]
synonym: "SSS1" RELATED [MONDO:Lexical, OMIM:608567]
xref: ICD10:I49.5 {source="MONDO:subClassOf", source="Orphanet:166282", source="ORDO:166282/attributed", source="ORDO:166282/ntbt"}
xref: MedDRA:10040639 {source="Orphanet:166282", source="ORDO:166282/e"}
xref: MESH:C563907 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:166282 {source="MONDO:equivalentTo", source="OMIM:608567"}
xref: SCTID:233913007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0001823 {source="DC-OMIM:608567", source="MESH:C563907", source="MONDO:Redundant", source="MONDOLEX:0012061", source="OMIM:608567", source="linkedlifedata"} ! sick sinus syndrome
is_a: MONDO:0015110 {source="Orphanet:166282"} ! genetic cardiac rhythm disease
intersection_of: MONDO:0001823 ! sick sinus syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/meddra/10040639
property_value: exactMatch http://identifiers.org/mesh/C563907
property_value: exactMatch http://identifiers.org/snomedct/233913007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037052
property_value: exactMatch Orphanet:166282

[Term]
id: MONDO:0012062
name: dilated cardiomyopathy 1O
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCC9 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical, OMIM:608569]
synonym: "cardiomyopathy, dilated, 1O; CMD1O" RELATED [OMIM:608569]
synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4, OMIM:608569]
synonym: "cardiomyopathy, dilated, with ventricular tachycardia" RELATED [OMIM:608569]
synonym: "CMD1O" EXACT [DOID:0110451, MONDO:Lexical, OMIM:608569]
synonym: "dilated cardiomyopathy type 1O" EXACT [DOID:0110451, MONDORULE:4]
synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [DOID:0110451]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ABCC9" EXACT [MONDO:design_pattern]
xref: DOID:0110451 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110451"}
xref: MESH:C563906 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608569 {source="MONDO:equivalentTo", source="DOID:0110451"}
xref: UMLS:C1837839 {source="OMIM:608569", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110451
property_value: exactMatch http://identifiers.org/mesh/C563906
property_value: exactMatch http://identifiers.org/omim/608569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837839

[Term]
id: MONDO:0012063
name: ulnar/fibula ray defect-brachydactyly syndrome
def: "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." [Orphanet:52056]
subset: ordo_malformation_syndrome {source="Orphanet:52056"}
synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056]
synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571]
xref: ICD10:Q73.8 {source="Orphanet:52056", source="ORDO:52056/attributed", source="ORDO:52056/ntbt"}
xref: MESH:C563905 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="ORDO:52056/e"}
xref: Orphanet:52056 {source="MONDO:equivalentTo", source="OMIM:608571"}
xref: SCTID:719843001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.39/0.86"}
is_a: MONDO:0019066 {source="Orphanet:52056", source="Orphanet:52056/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837830
property_value: exactMatch http://identifiers.org/mesh/C563905
property_value: exactMatch http://identifiers.org/omim/608571
property_value: exactMatch http://identifiers.org/snomedct/719843001
property_value: exactMatch Orphanet:52056

[Term]
id: MONDO:0012064
name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
def: "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term)." [Orphanet:1200]
subset: gard_rare {source="GARD:0010041"}
subset: ordo_malformation_syndrome {source="Orphanet:1200"}
synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" RELATED [GARD:0010041]
synonym: "BMKS" RELATED [MONDO:Lexical, OMIM:608572]
synonym: "Burn-McKeown syndrome" EXACT [Orphanet:1200]
synonym: "Burn-McKeown syndrome" RELATED [MONDO:Lexical, OMIM:608572]
synonym: "Burn-McKeown syndrome; BMKS" RELATED [OMIM:608572]
synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041]
synonym: "oculootofacial dysplasia" EXACT [OMIM:608572]
xref: GARD:0010041 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1200", source="ORDO:1200/attributed", source="ORDO:1200/ntbt"}
xref: MESH:C563682 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608572 {source="Orphanet:1200", source="ORDO:1200/e", source="MONDO:equivalentTo"}
xref: Orphanet:1200 {source="MONDO:equivalentTo", source="OMIM:608572"}
xref: UMLS:C1835913 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:1200"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:1200", source="Orphanet:1200/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0019589 {source="Orphanet:1200"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1200"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537411
property_value: exactMatch http://identifiers.org/mesh/C563682
property_value: exactMatch http://identifiers.org/omim/608572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837822
property_value: exactMatch Orphanet:1200
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome xsd:anyURI {source="GARD:0010041"}

[Term]
id: MONDO:0012065
name: obsolete Stevens-Johnson syndrome
is_obsolete: true
replaced_by: MONDO:0018229

[Term]
id: MONDO:0012066
name: ATFB1
synonym: "ATFB1" EXACT [MONDO:Lexical, OMIM:608583]
synonym: "atrial fibrillation, autosomal dominant" BROAD [OMIM:608583]
synonym: "atrial fibrillation, familial, 1" RELATED [MONDO:Lexical, OMIM:608583]
synonym: "atrial fibrillation, familial, 1; ATFB1" RELATED [OMIM:608583]
xref: MESH:C538261 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608583 {source="MONDO:equivalentTo"}
xref: UMLS:C1843687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608583"}
is_a: MONDO:0018054 {source="DC-OMIM:608583", source="MONDOLEX:0012066", source="OMIM:608583"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C538261
property_value: exactMatch http://identifiers.org/omim/608583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843687

[Term]
id: MONDO:0012067
name: asthma-related traits, susceptibility to, 2
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT2" RELATED [OMIM:608584]
synonym: "asthma-related traits, susceptibility to, 2" EXACT [OMIM:608584]
synonym: "asthma-related traits, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608584]
synonym: "inherited susceptibility to asthma caused by mutation in NPSR1" EXACT [MONDO:design_pattern]
synonym: "NPSR1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:608584 {source="MONDO:equivalentTo"}
xref: UMLS:C1837811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608584"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012067"} ! inherited susceptibility to asthma
property_value: exactMatch http://identifiers.org/omim/608584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837811

[Term]
id: MONDO:0012068
name: brachial palsy, familial congenital
synonym: "brachial palsy, familial congenital" EXACT [OMIM:608585]
xref: MESH:C563901 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608585 {source="MONDO:equivalentTo"}
xref: UMLS:C1837810 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608585"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563901
property_value: exactMatch http://identifiers.org/omim/608585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837810

[Term]
id: MONDO:0012069
name: KTCN3
synonym: "keratoconus 3" RELATED [MONDO:Lexical, OMIM:608586]
synonym: "keratoconus 3; KTCN3" RELATED [OMIM:608586]
synonym: "KTCN3" EXACT [MONDO:Lexical, OMIM:608586]
xref: MESH:C563900 {source="MONDO:equivalentTo"}
xref: OMIM:608586 {source="MONDO:equivalentTo"}
xref: UMLS:C1837809 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608586"}
is_a: MONDO:0015486 {source="DC-OMIM:608586", source="MESH:C563900", source="OMIM:608586"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/mesh/C563900
property_value: exactMatch http://identifiers.org/omim/608586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837809

[Term]
id: MONDO:0012070
name: autosomal dominant Charcot-Marie-Tooth disease type 2G
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." [Orphanet:99941]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99941"}
synonym: "Charcot Marie Tooth disease type 2G" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease type 2G" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2G" RELATED [GARD:0009195, MONDO:Lexical, OMIM:608591]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2G; CMT2G" RELATED [OMIM:608591]
synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth neuropathy, type 2G" RELATED [OMIM:608591]
synonym: "CMT 2G" RELATED [GARD:0009195]
synonym: "CMT2G" EXACT [MONDO:Lexical, OMIM:608591, Orphanet:99941]
synonym: "moved to 614436" RELATED [OMIM:608591]
xref: GARD:0009195 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99941", source="ORDO:99941/attributed", source="ORDO:99941/ntbt"}
xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentTo", source="ORDO:99941/e"}
xref: Orphanet:99941 {source="GARD:0009195", source="MONDO:equivalentTo", source="OMIM:608591"}
xref: SCTID:719511005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1837805 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99941", source="MONDO:equivalentTo", source="OMIM:608591"}
xref: UMLS:C4304674 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="Orphanet:99941"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch http://identifiers.org/omim/608591
property_value: exactMatch http://identifiers.org/snomedct/719511005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304674
property_value: exactMatch Orphanet:99941
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9195/charcot-marie-tooth-disease-type-2g xsd:anyURI {source="GARD:0009195"}

[Term]
id: MONDO:0012071
name: congenital generalized lipodystrophy type 1
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "AGPAT2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "AGPAT2-related Brunzell syndrome" RELATED [GARD:0000084]
synonym: "Berardinelli-Seip congenital lipodystrophy type 1" RELATED [GARD:0000084]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 1" EXACT [DOID:0111135]
synonym: "Brunzell syndrome AGPAT2-related" EXACT [DOID:0111135]
synonym: "Brunzell syndrome, Agpat2-related" RELATED [OMIM:608594]
synonym: "BSCL1" EXACT [DOID:0111135, GARD:0000084]
synonym: "CGL1" EXACT [DOID:0111135, MONDO:Lexical, OMIM:608594]
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2" EXACT []
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [OMIM:608594]
synonym: "lipodystrophy, congenital generalized, type 1" RELATED [MONDO:Lexical, OMIM:608594]
synonym: "lipodystrophy, congenital generalized, type 1; CGL1" RELATED [OMIM:608594]
xref: DOID:0111135 {source="MONDO:equivalentTo"}
xref: GARD:0000084 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="DOID:0111135"}
xref: OMIM:608594 {source="MONDO:equivalentTo", source="DOID:0111135", source="GARD:0000084"}
is_a: MONDO:0006536 {source="DC-OMIM:608594", source="DOID:0111135", source="MONDO:Redundant", source="MONDOLEX:0012071", source="OMIM:608594"} ! congenital generalized lipodystrophy (disease)
is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720862
property_value: exactMatch DOID:0111135
property_value: exactMatch http://identifiers.org/omim/608594

[Term]
id: MONDO:0012072
name: familial partial lipodystrophy, Kobberling type
def: "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." [Orphanet:79084]
subset: ordo_disease {source="Orphanet:79084"}
synonym: "familial partial lipodystrophy type 1" EXACT [Orphanet:79084]
synonym: "familial partial lipodystrophy type Köbberling" RELATED [GARD:0012598]
synonym: "familial partial lipodystrophy, Köbberling type" RELATED [Orphanet:79084]
synonym: "FPLD1" EXACT [MONDO:Lexical, OMIM:608600, Orphanet:79084]
synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600]
synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600]
synonym: "lipodystrophy, familial partial, type 1; FPLD1" RELATED [OMIM:608600]
xref: DOID:0070207 {source="MONDO:equivalentTo"}
xref: GARD:0012598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="Orphanet:79084", source="ORDO:79084/attributed", source="ORDO:79084/ntbt"}
xref: OMIM:608600 {source="ORDO:79084/e", source="MONDO:equivalentTo", source="Orphanet:79084"}
xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"}
xref: SCTID:725035001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020088 {source="DC-OMIM:608600", source="MONDOLEX:0012072", source="OMIM:608600", source="Orphanet:79084"} ! familial partial lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720859
property_value: exactMatch DOID:0070207
property_value: exactMatch http://identifiers.org/omim/608600
property_value: exactMatch http://identifiers.org/snomedct/725035001
property_value: exactMatch Orphanet:79084

[Term]
id: MONDO:0012073
name: ribose-5-P isomerase deficiency
def: "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." [Orphanet:440706]
subset: ordo_disease {source="Orphanet:440706"}
synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611]
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563212 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608611 {source="MONDO:equivalentTo", source="Orphanet:440706", source="ORDO:440706/e"}
xref: Orphanet:440706 {source="MONDO:equivalentTo"}
xref: SCTID:124667004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C1291609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608611", source="Orphanet:440706"}
is_a: MONDO:0019046 {source="Orphanet:440706"} ! leukodystrophy
is_a: MONDO:0019231 {source="Orphanet:440706"} ! inborn disorder of pentose phosphate metabolism
property_value: exactMatch http://identifiers.org/mesh/C563212
property_value: exactMatch http://identifiers.org/omim/608611
property_value: exactMatch http://identifiers.org/snomedct/124667004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291609
property_value: exactMatch Orphanet:440706

[Term]
id: MONDO:0012074
name: mandibuloacral dysplasia with type B lipodystrophy
subset: gard_rare {source="GARD:0009989"}
subset: ordo_clinical_subtype {source="Orphanet:90154"}
synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [OMIM:608612]
synonym: "MADB" RELATED [MONDO:Lexical, OMIM:608612]
synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612]
synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy; MADB" RELATED [OMIM:608612]
xref: GARD:0009989 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="Orphanet:90154", source="ORDO:90154/attributed", source="ORDO:90154/ntbt"}
xref: MESH:C535706 {source="ORDO:90154/e", source="Orphanet:90154", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608612 {source="ORDO:90154/e", source="Orphanet:90154", source="MONDO:equivalentTo"}
xref: Orphanet:90154 {source="OMIM:608612", source="MONDO:equivalentTo"}
xref: UMLS:C1837756 {source="OMIM:608612", source="ORDO:90154/e", source="Orphanet:90154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016584 {source="DC-OMIM:608612", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch http://identifiers.org/mesh/C535706
property_value: exactMatch http://identifiers.org/omim/608612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837756
property_value: exactMatch Orphanet:90154
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy xsd:anyURI {source="GARD:0009989"}

[Term]
id: MONDO:0012075
name: oligodontia-cancer predisposition syndrome
subset: ordo_disease {source="Orphanet:300576"}
synonym: "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" EXACT [Orphanet:300576]
synonym: "ODCRCS" RELATED [MONDO:Lexical, OMIM:608615]
synonym: "oligodontia-colorectal cancer syndrome" RELATED [MONDO:Lexical, OMIM:608615]
synonym: "oligodontia-colorectal cancer syndrome; ODCRCS" RELATED [OMIM:608615]
synonym: "tooth agenesis-colorectal cancer syndrome" RELATED [OMIM:608615]
xref: MESH:C563898 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608615 {source="Orphanet:300576", source="ORDO:300576/e", source="MONDO:equivalentTo"}
xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"}
xref: UMLS:C1837750 {source="OMIM:608615", source="Orphanet:300576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:300576"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015945 {source="Orphanet:300576"} ! polymalformative genetic syndrome with increased risk of developing cancer
property_value: exactMatch http://identifiers.org/mesh/C563898
property_value: exactMatch http://identifiers.org/omim/608615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837750
property_value: exactMatch Orphanet:300576

[Term]
id: MONDO:0012076
name: midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
synonym: "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" EXACT [OMIM:608624]
xref: MESH:C563896 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608624 {source="MONDO:equivalentTo"}
xref: UMLS:C1837730 {source="OMIM:608624", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563896
property_value: exactMatch http://identifiers.org/omim/608624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837730

[Term]
id: MONDO:0012077
name: amyotrophic lateral sclerosis type 8
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010499"}
synonym: "ALS8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627]
synonym: "amyotrophic lateral sclerosis 8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627]
synonym: "amyotrophic lateral sclerosis 8; ALS8" RELATED [OMIM:608627]
synonym: "amyotrophic lateral sclerosis caused by mutation in VAPB" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 8" EXACT [MONDORULE:1, OMIM:608627]
synonym: "VAPB amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050752 {source="MONDO:equivalentTo"}
xref: GARD:0010499 {source="MONDO:equivalentTo"}
xref: MESH:C563895 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608627 {source="DOID:0050752", source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="DC-OMIM:608627", source="DOID:0050752", source="MESH:C563895", source="MONDO:Redundant", source="MONDOLEX:0012077", source="OMIM:608627"} ! amyotrophic lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837728
property_value: exactMatch DOID:0050752
property_value: exactMatch http://identifiers.org/mesh/C563895
property_value: exactMatch http://identifiers.org/omim/608627
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8 xsd:anyURI {source="GARD:0010499"}

[Term]
id: MONDO:0012078
name: Joubert syndrome 3
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AHI1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS3" EXACT [DOID:0110998]
synonym: "JBTS3" RELATED [MONDO:Lexical, OMIM:608629]
synonym: "Joubert syndrome 3" EXACT [MONDO:Lexical, OMIM:608629]
synonym: "Joubert syndrome 3; JBTS3" RELATED [OMIM:608629]
synonym: "Joubert syndrome caused by mutation in AHI1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 3" EXACT [DOID:0110998, MONDORULE:1, OMIM:608629]
xref: DOID:0110998 {source="MONDO:equivalentTo"}
xref: MESH:C536295 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C148259 {source="MONDO:equivalentTo"}
xref: OMIM:608629 {source="DOID:0110998", source="MONDO:equivalentTo"}
xref: UMLS:C1837713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608629"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:608629", source="DOID:0110998", source="MONDO:Redundant", source="NCIT:C148259", source="OMIM:608629"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110998
property_value: exactMatch http://identifiers.org/mesh/C536295
property_value: exactMatch http://identifiers.org/omim/608629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837713
property_value: exactMatch NCIT:C148259

[Term]
id: MONDO:0012079
name: ASPG2
subset: predisposition
synonym: "ASPERGER syndrome, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:608631]
synonym: "ASPERGER syndrome, susceptibility to, 2; ASPG2" RELATED [OMIM:608631]
synonym: "ASPG2" EXACT [MONDO:Lexical, OMIM:608631]
xref: OMIM:608631 {source="MONDO:equivalentTo"}
xref: UMLS:C1837697 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608631"}
is_a: MONDO:0005259 {source="DC-OMIM:608631", source="OMIM:608631"} ! Asperger syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/608631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837697

[Term]
id: MONDO:0012080
name: neuronopathy, distal hereditary motor, type 2B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HMN 2B" RELATED [OMIM:608634]
synonym: "HMN2B" RELATED [MONDO:Lexical, OMIM:608634]
synonym: "HSPB1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical, OMIM:608634]
synonym: "neuronopathy, distal hereditary motor, type IIB; HMN2B" RELATED [OMIM:608634]
synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [OMIM:608634]
xref: MESH:C567084 {source="MONDO:equivalentTo"}
xref: OMIM:608634 {source="MONDO:equivalentTo"}
xref: UMLS:C2608087 {source="OMIM:608634", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:608634", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2
property_value: exactMatch http://identifiers.org/mesh/C567084
property_value: exactMatch http://identifiers.org/omim/608634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2608087

[Term]
id: MONDO:0012081
name: 15q11q13 microduplication syndrome
def: "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." [Orphanet:238446]
subset: ordo_malformation_syndrome {source="Orphanet:238446"}
subset: predisposition
synonym: "15q11-q13 duplication syndrome" EXACT [Orphanet:238446]
synonym: "15q11-q13 microduplication syndrome" EXACT [Orphanet:238446]
synonym: "15q11q13 duplication syndrome" EXACT [Orphanet:238446]
synonym: "autism, susceptibility to, 4" RELATED [OMIM:608636]
synonym: "chromosome 15q11-q13 DUPLICATION syndrome" RELATED [OMIM:608636]
synonym: "chromosome 15Q11.2 Duplication syndrome" RELATED [OMIM:608636]
synonym: "dup(15)(q11q13)" EXACT [Orphanet:238446]
synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636]
synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446]
synonym: "trisomy 15q11q13" EXACT [Orphanet:238446]
xref: ICD10:Q92.3 {source="Orphanet:238446", source="ORDO:238446/attributed", source="ORDO:238446/ntbt"}
xref: NCIT:C126692 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.19"}
xref: OMIM:608636 {source="Orphanet:238446", source="ORDO:238446/e", source="MONDO:equivalentTo"}
xref: Orphanet:238446 {source="OMIM:608636", source="MONDO:equivalentTo"}
xref: SCTID:719427001 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
xref: UMLS:C2675336 {source="Orphanet:238446", source="NCIT:C126692", source="OMIM:608636", source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304726 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DC-OMIM:608636"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002254 {source="MONDOLEX:0012081", source="NCIT:C126692"} ! syndromic disease
is_a: MONDO:0005260 {source="DC-OMIM:608636", source="MONDOLEX:0012081", source="OMIM:608636"} ! autism (disease)
is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016965 {source="Orphanet:238446"} ! partial duplication of the long arm of chromosome 15
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876176
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807826
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/608636
property_value: exactMatch http://identifiers.org/snomedct/719427001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304726
property_value: exactMatch NCIT:C126692
property_value: exactMatch Orphanet:238446

[Term]
id: MONDO:0012082
name: ASPG1
subset: predisposition
synonym: "ASPERGER syndrome, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:608638]
synonym: "ASPERGER syndrome, susceptibility to, 1; ASPG1" RELATED [OMIM:608638]
synonym: "ASPG1" EXACT [MONDO:Lexical, OMIM:608638]
xref: OMIM:608638 {source="MONDO:equivalentTo"}
xref: UMLS:C1837646 {source="NCBI:mim2gene_medline", source="OMIM:608638", source="MONDO:equivalentTo"}
is_a: MONDO:0005259 {source="DC-OMIM:608638", source="OMIM:608638"} ! Asperger syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/608638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837646

[Term]
id: MONDO:0012083
name: autosomal dominant nonsyndromic deafness 28
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 28" EXACT [DOID:0110557]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 28" EXACT [DOID:0110557, MONDORULE:2]
synonym: "deafness, autosomal dominant 28" RELATED [MONDO:Lexical, OMIM:608641]
synonym: "deafness, autosomal dominant 28; DFNA28" RELATED [OMIM:608641]
synonym: "deafness, autosomal dominant type 28" EXACT [MONDORULE:2, OMIM:608641]
synonym: "DFNA28" EXACT [DOID:0110557, MONDO:Lexical, OMIM:608641]
synonym: "GRHL2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110557 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110557"}
xref: MESH:C563890 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608641 {source="DOID:0110557", source="MONDO:equivalentTo"}
xref: UMLS:C1837640 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608641"}
is_a: MONDO:0019587 {source="DC-OMIM:608641", source="DOID:0110557", source="MONDO:Redundant", source="OMIM:608641"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110557
property_value: exactMatch http://identifiers.org/mesh/C563890
property_value: exactMatch http://identifiers.org/omim/608641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837640

[Term]
id: MONDO:0012084
name: aromatic L-amino acid decarboxylase deficiency
def: "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." [Orphanet:35708]
subset: gard_rare {source="GARD:0000770"}
subset: ordo_disease {source="Orphanet:35708"}
synonym: "AADC deficiency" EXACT [DOID:0090123, Orphanet:35708]
synonym: "Aadc deficiency" RELATED [OMIM:608643]
synonym: "aromatic amino acid decarboxylase deficiency" RELATED [GARD:0000770]
synonym: "aromatic L-amino acid decarboxylase deficiency" EXACT [OMIM:608643]
synonym: "aromatic L-amino-acid decarboxylase deficiency" EXACT [NCIT:C142085]
synonym: "DDC deficiency" RELATED [OMIM:608643]
synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643]
xref: DOID:0090123 {source="MONDO:equivalentTo"}
xref: GARD:0000770 {source="MONDO:equivalentTo"}
xref: GARD:770 {source="DOID:0090123"}
xref: ICD10:G24.8 {source="ORDO:35708/attributed", source="ORDO:35708/ntbt", source="DOID:0090123", source="Orphanet:35708"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537437 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142085 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:608643 {source="MONDO:equivalentTo", source="DOID:0090123", source="ORDO:35708/e", source="Orphanet:35708"}
xref: Orphanet:35708 {source="MONDO:equivalentTo", source="DOID:0090123", source="OMIM:608643"}
xref: SCTID:237922009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.46/0.05"}
is_a: MONDO:0017759 {source="Orphanet:35708", source="linkedlifedata"} ! disorder of catecholamine synthesis
is_a: MONDO:0019058 {source="Orphanet:35708"} ! neurometabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342686
property_value: exactMatch DOID:0090123
property_value: exactMatch http://identifiers.org/mesh/C537437
property_value: exactMatch http://identifiers.org/omim/608643
property_value: exactMatch http://identifiers.org/snomedct/237922009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291564
property_value: exactMatch NCIT:C142085
property_value: exactMatch Orphanet:35708
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency xsd:anyURI {source="GARD:0000770"}

[Term]
id: MONDO:0012085
name: primary ciliary dyskinesia 3
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD3" EXACT [DOID:0110599, MONDO:Lexical, OMIM:608644]
synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical, OMIM:608644]
synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [OMIM:608644]
synonym: "ciliary dyskinesia, primary, 3; CILD3" RELATED [OMIM:608644]
synonym: "ciliary dyskinesia, primary, type 3" EXACT [MONDORULE:1, OMIM:608644]
synonym: "DNAH5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [DOID:0110599]
synonym: "primary ciliary dyskinesia caused by mutation in DNAH5" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 3" EXACT [DOID:0110599, MONDORULE:1]
xref: DOID:0110599 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110599"}
xref: MESH:C535278 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608644 {source="DOID:0110599", source="MONDO:equivalentTo"}
xref: UMLS:C1837618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608644"}
is_a: MONDO:0016575 {source="DC-OMIM:608644", source="DOID:0110599", source="MESH:C535278", source="MESH:C535278/inferred", source="MONDO:Redundant", source="MONDOLEX:0012085", source="OMIM:608644"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110599
property_value: exactMatch http://identifiers.org/mesh/C535278
property_value: exactMatch http://identifiers.org/omim/608644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837618

[Term]
id: MONDO:0012086
name: autosomal dominant nonsyndromic deafness 31
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3." [DOID:0110561, PMID:11559344]
synonym: "autosomal dominant deafness 31" EXACT [DOID:0110561]
synonym: "autosomal dominant nonsyndromic deafness type 31" EXACT [DOID:0110561, MONDORULE:2]
synonym: "deafness, autosomal dominant 31" RELATED [MONDO:Lexical, OMIM:608645]
synonym: "deafness, autosomal dominant 31; DFNA31" RELATED [OMIM:608645]
synonym: "DFNA31" EXACT [DOID:0110561, MONDO:Lexical, OMIM:608645]
xref: DOID:0110561 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110561"}
xref: MESH:C563888 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608645 {source="MONDO:equivalentTo", source="DOID:0110561"}
xref: UMLS:C1837617 {source="OMIM:608645", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:608645", source="DOID:0110561", source="OMIM:608645"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110561
property_value: exactMatch http://identifiers.org/mesh/C563888
property_value: exactMatch http://identifiers.org/omim/608645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837617

[Term]
id: MONDO:0012087
name: primary ciliary dyskinesia 4
def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1." [DOID:0110614, PMID:14985390]
synonym: "CILD4" EXACT [DOID:0110614, MONDO:Lexical, OMIM:608646]
synonym: "ciliary dyskinesia, primary, 4" RELATED [MONDO:Lexical, OMIM:608646]
synonym: "ciliary dyskinesia, primary, 4, with or without situs inversus" RELATED [OMIM:608646]
synonym: "ciliary dyskinesia, primary, 4; CILD4" RELATED [OMIM:608646]
synonym: "primary ciliary dyskinesia 4 with or without situs inversus" EXACT [DOID:0110614]
synonym: "primary ciliary dyskinesia type 4" EXACT [DOID:0110614, MONDORULE:1]
xref: DOID:0110614 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110614"}
xref: MESH:C535279 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608646 {source="DOID:0110614", source="MONDO:equivalentTo"}
xref: UMLS:C1837616 {source="OMIM:608646", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:608646", source="DOID:0110614", source="MESH:C535279", source="MESH:C535279/inferred", source="MONDOLEX:0012087", source="OMIM:608646"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110614
property_value: exactMatch http://identifiers.org/mesh/C535279
property_value: exactMatch http://identifiers.org/omim/608646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837616

[Term]
id: MONDO:0012088
name: primary ciliary dyskinesia 5
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD5" EXACT [DOID:0110617, MONDO:Lexical, OMIM:608647]
synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647]
synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647]
synonym: "ciliary dyskinesia, primary, 5; CILD5" RELATED [OMIM:608647]
synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1, OMIM:608647]
synonym: "HYDIN primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:0110617]
synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1]
xref: DOID:0110617 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110617"}
xref: MESH:C563886 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608647 {source="DOID:0110617", source="MONDO:equivalentTo"}
xref: UMLS:C1837615 {source="OMIM:608647", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:608647", source="DOID:0110617", source="MESH:C563886", source="MONDO:Redundant", source="MONDOLEX:0012088", source="OMIM:608647"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110617
property_value: exactMatch http://identifiers.org/mesh/C563886
property_value: exactMatch http://identifiers.org/omim/608647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837615

[Term]
id: MONDO:0012089
name: ichthyosis prematurity syndrome
def: "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." [Orphanet:88621]
subset: gard_rare {source="GARD:0009886"}
subset: ordo_disease {source="Orphanet:88621"}
synonym: "congenital ichthyosis type 4" EXACT [Orphanet:88621]
synonym: "ichthyosis congenita 4" RELATED [OMIM:608649]
synonym: "ichthyosis congenita IV" RELATED [GARD:0009886]
synonym: "ichthyosis prematurity syndrome" EXACT [MONDO:Lexical, OMIM:608649]
synonym: "ichthyosis prematurity syndrome; IPS" RELATED [OMIM:608649]
synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621]
synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590]
synonym: "IPS" EXACT [MONDO:Lexical, OMIM:608649, Orphanet:88621]
xref: GARD:0009886 {source="MONDO:equivalentTo"}
xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:88621/e"}
xref: NCIT:C62590 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.24"}
xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="ORDO:88621/e"}
xref: Orphanet:88621 {source="OMIM:608649", source="MONDO:equivalentTo"}
xref: SCTID:12381000132107 {source="MONDO:equivalentTo"}
xref: UMLS:C1504431 {source="MONDO:equivalentTo", source="NCIT:C62590", source="MEDGEN:kboom-pr96-c96"}
xref: UMLS:C1837610 {source="Orphanet:88621", source="NCBI:mim2gene_medline", source="OMIM:608649", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:88621/e"}
is_a: MONDO:0017274 {source="Orphanet:88621"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0043905 {source="NCIT:C62590", source="linkedlifedata"} ! pneumonitis
property_value: exactMatch http://identifiers.org/mesh/C536271
property_value: exactMatch http://identifiers.org/omim/608649
property_value: exactMatch http://identifiers.org/snomedct/12381000132107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1504431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837610
property_value: exactMatch NCIT:C62590
property_value: exactMatch Orphanet:88621
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome xsd:anyURI {source="GARD:0009886"}

[Term]
id: MONDO:0012090
name: autosomal dominant nonsyndromic deafness 47
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21." [DOID:0110570, PMID:12634859]
synonym: "autosomal dominant deafness 47" EXACT [DOID:0110570]
synonym: "autosomal dominant nonsyndromic deafness type 47" EXACT [DOID:0110570, MONDORULE:2]
synonym: "deafness, autosomal dominant 47" RELATED [MONDO:Lexical, OMIM:608652]
synonym: "deafness, autosomal dominant 47; DFNA47" RELATED [OMIM:608652]
synonym: "DFNA47" EXACT [DOID:0110570, MONDO:Lexical, OMIM:608652]
xref: DOID:0110570 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110570"}
xref: MESH:C563885 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608652 {source="MONDO:equivalentTo", source="DOID:0110570"}
xref: UMLS:C1837609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608652"}
is_a: MONDO:0019587 {source="DC-OMIM:608652", source="DOID:0110570", source="OMIM:608652"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110570
property_value: exactMatch http://identifiers.org/mesh/C563885
property_value: exactMatch http://identifiers.org/omim/608652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837609

[Term]
id: MONDO:0012091
name: autosomal recessive nonsyndromic deafness 32
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in variation in the chromosome region 1p22.1-p13.3." [DOID:0110491, PMID:12634867]
synonym: "autosomal recessive deafness 32" EXACT [DOID:0110491]
synonym: "autosomal recessive nonsyndromic deafness type 32" EXACT [DOID:0110491, MONDORULE:2]
synonym: "deafness, autosomal recessive 32" RELATED [MONDO:Lexical, OMIM:608653]
synonym: "deafness, autosomal recessive 32; DFNB32" RELATED [OMIM:608653]
synonym: "DFNB32" EXACT [DOID:0110491, MONDO:Lexical, OMIM:608653]
xref: DOID:0110491 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110491"}
xref: MESH:C563884 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608653 {source="DOID:0110491", source="MONDO:equivalentTo"}
xref: UMLS:C1837608 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608653"}
is_a: MONDO:0019588 {source="DC-OMIM:608653", source="DOID:0110491", source="OMIM:608653"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110491
property_value: exactMatch http://identifiers.org/mesh/C563884
property_value: exactMatch http://identifiers.org/omim/608653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837608

[Term]
id: MONDO:0012092
name: hereditary sensory and autonomic neuropathy type 5
def: "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." [Orphanet:64752]
subset: ordo_disease {source="Orphanet:64752"}
synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern]
synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752]
synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, Orphanet:64752]
synonym: "HSAN 5" RELATED [OMIM:608654]
synonym: "HSAN V" RELATED [GARD:0012328]
synonym: "HSAN5" EXACT [DOID:0070145, MONDO:Lexical, OMIM:608654, Orphanet:64752]
synonym: "insensitivity to pain, congenital" RELATED [OMIM:608654]
synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:608654]
synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654]
synonym: "neuropathy, hereditary sensory and autonomic, type V; HSAN5" RELATED [OMIM:608654]
synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070145 {source="MONDO:equivalentTo"}
xref: GARD:0012328 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:12328 {source="DOID:0070145"}
xref: ICD10:G60.8 {source="Orphanet:64752", source="ORDO:64752/attributed", source="ORDO:64752/ntbt"}
xref: OMIM:608654 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:equivalentTo", source="ORDO:64752/e"}
xref: Orphanet:64752 {source="MONDO:equivalentTo", source="OMIM:608654"}
xref: PMID:14976160 {source="DOID:0070145"}
xref: PMID:77656 {source="DOID:0070145"}
xref: SCTID:128206006 {source="DOID:0070145", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.84"}
is_a: MONDO:0015366 {source="MONDO:Redundant", source="Orphanet:64752"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: closeMatch http://identifiers.org/snomedct/403605007
property_value: closeMatch Orphanet:608654
property_value: exactMatch DOID:0070145
property_value: exactMatch http://identifiers.org/mesh/D000699
property_value: exactMatch http://identifiers.org/omim/608654
property_value: exactMatch http://identifiers.org/snomedct/128206006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002768
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020075
property_value: exactMatch Orphanet:64752

[Term]
id: MONDO:0012093
name: prostate cancer, hereditary, 3
synonym: "HPC3" RELATED [OMIM:608656]
synonym: "prostate cancer, hereditary, 3" EXACT [OMIM:608656]
synonym: "prostate cancer, hereditary, type 3" EXACT [MONDORULE:1, OMIM:608656]
xref: MESH:C563883 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608656 {source="MONDO:equivalentTo"}
xref: UMLS:C1837595 {source="OMIM:608656", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDOLEX:0012093"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C563883
property_value: exactMatch http://identifiers.org/omim/608656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837595

[Term]
id: MONDO:0012094
name: prostate cancer, hereditary, 4
synonym: "HPC4" RELATED [OMIM:608658]
synonym: "prostate cancer, hereditary, 4" EXACT [OMIM:608658]
synonym: "prostate cancer, hereditary, on chromosome 7" RELATED [OMIM:608658]
synonym: "prostate cancer, hereditary, type 4" EXACT [MONDORULE:1, OMIM:608658]
xref: MESH:C563882 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608658 {source="MONDO:equivalentTo"}
xref: UMLS:C1837593 {source="OMIM:608658", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDOLEX:0012094"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C563882
property_value: exactMatch http://identifiers.org/omim/608658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837593

[Term]
id: MONDO:0012095
name: intellectual disability-brachydactyly-Pierre Robin syndrome
def: "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." [Orphanet:364577]
subset: ordo_malformation_syndrome {source="Orphanet:364577"}
synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670]
xref: ICD10:Q87.0 {source="ORDO:364577/attributed", source="ORDO:364577/ntbt", source="Orphanet:364577"}
xref: MESH:C563880 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608670 {source="ORDO:364577/e", source="MONDO:equivalentTo", source="Orphanet:364577"}
xref: Orphanet:364577 {source="MONDO:equivalentTo", source="OMIM:608670"}
xref: UMLS:C1837564 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:364577", source="OMIM:608670"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:364577", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:364577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015319 {source="Orphanet:364577"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0018187 {source="Orphanet:364577", source="Orphanet:364577/inferred"} ! genetic syndromic Pierre Robin syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019066 {source="Orphanet:364577", source="Orphanet:364577/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C563880
property_value: exactMatch http://identifiers.org/omim/608670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837564
property_value: exactMatch Orphanet:364577

[Term]
id: MONDO:0012096
name: Charcot-Marie-Tooth disease axonal type 2L
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." [Orphanet:99945]
subset: ordo_disease {source="Orphanet:99945"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2L" RELATED [GARD:0012432]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [OMIM:608673]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical, OMIM:608673]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2L; CMT2L" RELATED [OMIM:608673]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [DOID:0110174]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673]
synonym: "CMT2L" EXACT [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945]
synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110174 {source="MONDO:equivalentTo"}
xref: GARD:0012432 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:99945", source="DOID:0110174", source="ORDO:99945/attributed", source="ORDO:99945/ntbt"}
xref: OMIM:608673 {source="ORDO:99945/e", source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174"}
xref: Orphanet:99945 {source="MONDO:equivalentTo", source="DOID:0110174", source="OMIM:608673"}
xref: SCTID:719513008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1837552 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608673"}
xref: UMLS:C4304673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110174", source="MONDO:Redundant", source="Orphanet:99945"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888087
property_value: exactMatch DOID:0110174
property_value: exactMatch http://identifiers.org/omim/608673
property_value: exactMatch http://identifiers.org/snomedct/719513008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304673
property_value: exactMatch Orphanet:99945

[Term]
id: MONDO:0012097
name: spondylocostal dysostosis 2, autosomal recessive
synonym: "SCDO2" RELATED [MONDO:Lexical, OMIM:608681]
synonym: "spondylocostal dysostosis 2" RELATED [GARD:0009703]
synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608681]
synonym: "spondylocostal dysostosis 2, autosomal recessive; SCDO2" RELATED [OMIM:608681]
xref: GARD:0009703 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:608681 {source="MONDO:equivalentTo"}
xref: UMLS:C1837549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608681"}
is_a: MONDO:0010180 {source="OMIM:608681", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
property_value: exactMatch http://identifiers.org/omim/608681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837549

[Term]
id: MONDO:0012098
name: spinocerebellar ataxia type 20
def: "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." [Orphanet:101110]
subset: ordo_disease {source="Orphanet:101110"}
synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [OMIM:608687]
synonym: "SCA20" EXACT [MONDO:Lexical, OMIM:608687, Orphanet:101110]
synonym: "spinocerebellar ataxia 20" RELATED [MONDO:Lexical, OMIM:608687]
synonym: "spinocerebellar ataxia 20; SCA20" RELATED [OMIM:608687]
synonym: "spinocerebellar ataxia type 20" EXACT [MONDORULE:2, OMIM:608687]
synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687]
synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687]
xref: DOID:0050971 {source="MONDO:equivalentTo"}
xref: GARD:0009997 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:101110", source="ORDO:101110/attributed", source="ORDO:101110/ntbt"}
xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:101110/e"}
xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="ORDO:101110/e"}
xref: Orphanet:101110 {source="MONDO:equivalentTo", source="OMIM:608687"}
xref: SCTID:718771009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1837541 {source="Orphanet:101110", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101110/e", source="OMIM:608687"}
is_a: MONDO:0019792 {source="Orphanet:101110"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050971
property_value: exactMatch http://identifiers.org/mesh/C537199
property_value: exactMatch http://identifiers.org/omim/608687
property_value: exactMatch http://identifiers.org/snomedct/718771009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837541
property_value: exactMatch Orphanet:101110

[Term]
id: MONDO:0012099
name: AICA-ribosiduria
def: "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." [Orphanet:250977]
subset: ordo_disease {source="Orphanet:250977"}
synonym: "5-amino-4-imidazole carboxamide ribosiduria" EXACT [Orphanet:250977]
synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688]
synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688]
synonym: "ATIC deficiency" EXACT [Orphanet:250977]
synonym: "Atic deficiency" RELATED [OMIM:608688]
xref: ICD10:E79.8 {source="ORDO:250977/attributed", source="ORDO:250977/ntbt", source="Orphanet:250977"}
xref: MESH:C563876 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608688 {source="MONDO:equivalentTo", source="ORDO:250977/e", source="Orphanet:250977"}
xref: Orphanet:250977 {source="MONDO:equivalentTo", source="OMIM:608688"}
xref: SCTID:725289009 {source="MONDO:equivalentTo"}
xref: UMLS:C1837530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:608688", source="Orphanet:250977"}
xref: UMLS:C4510943 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:250977"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015919 {source="Orphanet:250977"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0019236 {source="Orphanet:250977"} ! inborn disorder of purine metabolism
is_a: MONDO:0020242 {source="Orphanet:250977"} ! genetic macular dystrophy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C563876
property_value: exactMatch http://identifiers.org/omim/608688
property_value: exactMatch http://identifiers.org/snomedct/725289009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510943
property_value: exactMatch Orphanet:250977

[Term]
id: MONDO:0012100
name: major depressive disorder 2
synonym: "major depressive disorder 2" EXACT [OMIM:608691]
synonym: "major depressive disorder type 2" EXACT [MONDORULE:1, OMIM:608691]
synonym: "MDD2" RELATED [OMIM:608691]
synonym: "unipolar depression 2" RELATED [OMIM:608691]
xref: MESH:C563875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608691 {source="MONDO:equivalentTo"}
xref: UMLS:C1837529 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608691"}
is_a: MONDO:0002009 {source="DC-OMIM:608691", source="MESH:C563875", source="MONDOLEX:0012100"} ! major depressive disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563875
property_value: exactMatch http://identifiers.org/omim/608691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837529

[Term]
id: MONDO:0012101
name: GLC1J
synonym: "glaucoma 1, open angle, J" RELATED [MONDO:Lexical, OMIM:608695]
synonym: "glaucoma 1, open angle, J; GLC1J" RELATED [OMIM:608695]
synonym: "glaucoma, primary open angle, juvenile-onset, 2" RELATED [OMIM:608695]
synonym: "GLC1J" EXACT [MONDO:Lexical, OMIM:608695]
synonym: "JOAG1J" EXACT []
synonym: "JOAG2" EXACT []
xref: MESH:C563874 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608695 {source="MONDO:equivalentTo"}
xref: UMLS:C1837528 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608695"}
is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma
property_value: exactMatch http://identifiers.org/mesh/C563874
property_value: exactMatch http://identifiers.org/omim/608695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837528

[Term]
id: MONDO:0012102
name: GLC1K
synonym: "glaucoma 1, open angle, K" RELATED [MONDO:Lexical, OMIM:608696]
synonym: "glaucoma 1, open angle, K; GLC1K" RELATED [OMIM:608696]
synonym: "glaucoma, primary open angle, juvenile-onset, 3" RELATED [OMIM:608696]
synonym: "GLC1K" EXACT [MONDO:Lexical, OMIM:608696]
synonym: "JOAG1K" EXACT []
xref: MESH:C563873 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608696 {source="MONDO:equivalentTo"}
xref: UMLS:C1837527 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608696"}
is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma
property_value: exactMatch http://identifiers.org/mesh/C563873
property_value: exactMatch http://identifiers.org/omim/608696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837527

[Term]
id: MONDO:0012103
name: spinocerebellar ataxia type 25
def: "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." [Orphanet:101111]
subset: ordo_disease {source="Orphanet:101111"}
synonym: "SCA25" EXACT [MONDO:Lexical, OMIM:608703, Orphanet:101111]
synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703]
synonym: "spinocerebellar ataxia 25; SCA25" RELATED [OMIM:608703]
xref: DOID:0050974 {source="MONDO:equivalentTo"}
xref: GARD:0009996 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:101111", source="ORDO:101111/attributed", source="ORDO:101111/ntbt"}
xref: MESH:C537202 {source="Orphanet:101111", source="ORDO:101111/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608703 {source="Orphanet:101111", source="ORDO:101111/e", source="MONDO:equivalentTo", source="DOID:0050974"}
xref: Orphanet:101111 {source="OMIM:608703", source="MONDO:equivalentTo"}
xref: SCTID:718770005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1837518 {source="Orphanet:101111", source="ORDO:101111/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:608703", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:101111"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050974
property_value: exactMatch http://identifiers.org/mesh/C537202
property_value: exactMatch http://identifiers.org/omim/608703
property_value: exactMatch http://identifiers.org/snomedct/718770005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837518
property_value: exactMatch Orphanet:101111

[Term]
id: MONDO:0012104
name: acquired partial lipodystrophy
def: "Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." [Orphanet:79087]
subset: ordo_disease {source="Orphanet:79087"}
synonym: "acquired partial lipodystrophy" EXACT [MONDO:patterns/acquired]
synonym: "APLD" RELATED [MONDO:Lexical, OMIM:608709]
synonym: "Apld, susceptibility to" RELATED [OMIM:608709]
synonym: "Barraquer-Simons syndrome" EXACT [OMIM:608709, Orphanet:79087]
synonym: "lipodystophy partial progressive" RELATED [GARD:0010509]
synonym: "lipodystrophy cephalothoracic type" RELATED [GARD:0010509]
synonym: "lipodystrophy partial acquired" RELATED [GARD:0010509]
synonym: "lipodystrophy, cephalothoracic type" RELATED [OMIM:608709]
synonym: "lipodystrophy, partial, acquired, susceptibility to" RELATED [MONDO:Lexical, OMIM:608709]
synonym: "lipodystrophy, partial, acquired, susceptibility to; APLD" RELATED [OMIM:608709]
synonym: "lipodystrophy, partial, progressive" RELATED [OMIM:608709]
synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723]
synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087]
synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709]
xref: GARD:0010509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="ORDO:79087/ntbt", source="Orphanet:79087"}
xref: MESH:C562448 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129723 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: OMIM:608709 {source="MONDO:equivalentTo", source="ORDO:79087/e", source="Orphanet:79087"}
xref: Orphanet:79087 {source="MONDO:equivalentTo", source="OMIM:608709"}
xref: SCTID:75659004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.60"}
xref: UMLS:C0220989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79087/e", source="OMIM:608709", source="Orphanet:79087", source="NCIT:C129723"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:79087"} ! progeroid syndrome
is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79087"} ! acquired lipodystrophy
is_a: MONDO:0027767 {source="MONDO:Redundant", source="MONDOLEX:0012104", source="NCIT:C129723"} ! partial lipodystrophy
intersection_of: MONDO:0027767 ! partial lipodystrophy
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch http://identifiers.org/mesh/C562448
property_value: exactMatch http://identifiers.org/omim/608709
property_value: exactMatch http://identifiers.org/snomedct/75659004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220989
property_value: exactMatch NCIT:C129723
property_value: exactMatch Orphanet:79087

[Term]
id: MONDO:0012105
name: granulomatosis with polyangiitis
def: "A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." [Orphanet:900]
subset: ordo_disease {source="Orphanet:900"}
synonym: "ANCA-associated vasculitis" EXACT [PMID:16887845, PMID:28148583]
synonym: "GPA" EXACT [Orphanet:900]
synonym: "granulomatosis - Wegener's" EXACT DEPRECATED [DOID:12132]
synonym: "granulomatosis with polyangiitis" EXACT [OMIM:608710]
synonym: "Midline granulomatosis" RELATED [GARD:0007880]
synonym: "necrotizing respiratory granulomatosis" EXACT [DOID:12132, MTHICD9_2006:446.4]
synonym: "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis" EXACT [NCIT:C123111]
synonym: "Wegener granulomatosis" EXACT DEPRECATED [DOID:12132, OMIM:608710, Orphanet:900]
synonym: "Wegener's granulomatosis" EXACT DEPRECATED [Orphanet:900]
synonym: "Wegener's syndrome" EXACT [DOID:12132]
synonym: "Wg" BROAD DEPRECATED [OMIM:608710]
xref: COHD:313223 {source="MONDO:equivalentTo"}
xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"}
xref: EFO:0005297 {source="MONDO:equivalentTo"}
xref: GARD:0007880 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M31.3 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"}
xref: ICD10:M31.30 {source="DOID:12132"}
xref: ICD9:446.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:12132", source="EFO:0005297"}
xref: MedDRA:10047888 {source="ORDO:900/e", source="Orphanet:900"}
xref: MESH:D014890 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132", source="MONDO:ontobio", source="EFO:0005297"}
xref: NCIT:C123111 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: OMIM:608710 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"}
xref: Orphanet:900 {source="MONDO:equivalentTo", source="OMIM:608710"}
xref: SCTID:195353004 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"}
xref: UMLS:C3495801 {source="MEDGEN:kboom-pr98-c98", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"}
xref: UMLS:C4050407 {source="MONDO:equivalentTo", source="NCIT:C123111", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002462 {source="MONDOLEX:0012105", source="NCIT:C123111", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
is_a: MONDO:0003346 ! central nervous system vasculitis
is_a: MONDO:0005046 {source="MONDO:Entailed"} ! immune system disease
is_a: MONDO:0015492 {source="MESH:D014890", source="Orphanet:900"} ! Anti-neutrophil cytoplasmic antibody-associated vasculitis
is_a: MONDO:0015657 {source="Orphanet:900"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0016177 {source="Orphanet:900"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
is_a: MONDO:0019724 {source="Orphanet:900"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/155445002
property_value: closeMatch http://identifiers.org/snomedct/23782005
property_value: closeMatch http://identifiers.org/snomedct/239934006
property_value: closeMatch http://identifiers.org/snomedct/266323005
property_value: closeMatch http://identifiers.org/snomedct/390001000
property_value: closeMatch NCIT:C3444
property_value: exactMatch DOID:12132
property_value: exactMatch http://identifiers.org/meddra/10047888
property_value: exactMatch http://identifiers.org/mesh/D014890
property_value: exactMatch http://identifiers.org/omim/608710
property_value: exactMatch http://identifiers.org/snomedct/195353004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050407
property_value: exactMatch NCIT:C123111
property_value: exactMatch Orphanet:900

[Term]
id: MONDO:0012106
name: microcephaly 5, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASPM autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in ASPM" EXACT [MONDO:design_pattern]
synonym: "MCPH5" RELATED [MONDO:Lexical, OMIM:608716]
synonym: "microcephaly 5, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608716]
synonym: "microcephaly 5, primary, autosomal recessive; MCPH5" RELATED [OMIM:608716]
xref: DOID:0070280 {source="MONDO:equivalentTo"}
xref: MESH:C563871 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608716 {source="MONDO:equivalentTo"}
xref: UMLS:C1837501 {source="OMIM:608716", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:608716", source="MONDO:Redundant", source="OMIM:608716"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070280
property_value: exactMatch http://identifiers.org/mesh/C563871
property_value: exactMatch http://identifiers.org/omim/608716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837501

[Term]
id: MONDO:0012107
name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
synonym: "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" EXACT [OMIM:608720]
xref: MESH:C563870 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608720 {source="MONDO:equivalentTo"}
xref: UMLS:C1837492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608720"}
is_a: MONDO:0003847 {source="MESH:C563870/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563870
property_value: exactMatch http://identifiers.org/omim/608720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837492

[Term]
id: MONDO:0012108
name: spondyloepimetaphyseal dysplasia, matrilin-3 type
def: "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." [Orphanet:156728]
subset: ordo_disease {source="Orphanet:156728"}
synonym: "SEMD MATN3-related" RELATED [GARD:0010611]
synonym: "SEMD, MATN3-related" EXACT [Orphanet:156728]
synonym: "SEMD, MATN3-related" RELATED [OMIM:608728]
synonym: "SEMD, matrilin-3 type" EXACT [Orphanet:156728]
synonym: "spondyloepimetaphyseal dysplasia matrilin-3 related" RELATED [GARD:0010611]
synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:0010611]
synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728]
xref: GARD:0010611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="Orphanet:156728", source="ORDO:156728/attributed", source="ORDO:156728/ntbt"}
xref: MESH:C563869 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608728 {source="MONDO:equivalentTo", source="Orphanet:156728", source="ORDO:156728/e"}
xref: Orphanet:156728 {source="MONDO:equivalentTo", source="OMIM:608728"}
xref: SCTID:719166003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C1837481 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608728", source="MEDGEN:kboom-pr92-c96", source="Orphanet:156728"}
is_a: MONDO:0016761 {source="DC-OMIM:608728", source="Orphanet:156728", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C563869
property_value: exactMatch http://identifiers.org/omim/608728
property_value: exactMatch http://identifiers.org/snomedct/719166003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837481
property_value: exactMatch Orphanet:156728

[Term]
id: MONDO:0012109
name: hypertension, essential, susceptibility to, 4
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 4" EXACT [OMIM:608742]
synonym: "hypertension, essential, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608742]
synonym: "Hyt4" RELATED [OMIM:608742]
xref: OMIM:608742 {source="MONDO:equivalentTo"}
xref: UMLS:C1837479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608742"}
is_a: MONDO:0007781 {source="MONDOLEX:0012109", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: exactMatch http://identifiers.org/omim/608742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837479

[Term]
id: MONDO:0012110
name: growth delay due to insulin-like growth factor type 1 deficiency
def: "Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." [Orphanet:73272]
subset: ordo_disease {source="Orphanet:73272"}
synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [Orphanet:73272]
synonym: "growth retardation with sensorineural deafness and mental retardation" RELATED [OMIM:608747]
synonym: "IGF-1 deficiency" EXACT [Orphanet:73272]
synonym: "IGF1 deficiency" RELATED [OMIM:608747]
synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747]
synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747]
synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272]
xref: GARD:0010627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E34.3 {source="ORDO:73272/attributed", source="ORDO:73272/ntbt", source="Orphanet:73272"}
xref: MESH:C563867 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608747 {source="MONDO:equivalentTo", source="ORDO:73272/e", source="Orphanet:73272"}
xref: Orphanet:73272 {source="OMIM:608747", source="MONDO:equivalentTo"}
xref: SCTID:724385009 {source="MONDO:equivalentTo"}
xref: UMLS:C1837475 {source="OMIM:608747", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:73272"}
xref: UMLS:C4518327 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0015892 {source="Orphanet:73272"} ! growth hormone insensitivity syndrome
property_value: exactMatch http://identifiers.org/mesh/C563867
property_value: exactMatch http://identifiers.org/omim/608747
property_value: exactMatch http://identifiers.org/snomedct/724385009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518327
property_value: exactMatch Orphanet:73272

[Term]
id: MONDO:0012111
name: hypertrophic cardiomyopathy 8
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [DOID:0110314]
synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [DOID:0110314, MONDO:Lexical, OMIM:608751]
synonym: "cardiomyopathy, familial hypertrophic, 8; CMH8" RELATED [OMIM:608751]
synonym: "cardiomyopathy, familial hypertrophic, type 8" EXACT [MONDORULE:1, OMIM:608751]
synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" RELATED [OMIM:608751]
synonym: "CMH8" RELATED [MONDO:Lexical, OMIM:608751]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYL3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 8" EXACT [DOID:0110314, MONDORULE:1]
synonym: "MYL3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110314 {source="MONDO:equivalentTo"}
xref: MESH:C563866 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608751 {source="DOID:0110314", source="MONDO:equivalentTo"}
xref: UMLS:C1837471 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608751"}
is_a: MONDO:0024573 {source="MESH:C563866", source="MONDOLEX:0012111", source="OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110314
property_value: exactMatch http://identifiers.org/mesh/C563866
property_value: exactMatch http://identifiers.org/omim/608751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837471

[Term]
id: MONDO:0012112
name: hypertrophic cardiomyopathy 10
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial hypertrophic, 10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758]
synonym: "cardiomyopathy, familial hypertrophic, 10; CMH10" RELATED [OMIM:608758]
synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2, OMIM:608758]
synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [OMIM:608758]
synonym: "CMH10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYL2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 10" EXACT [DOID:0110316, MONDORULE:2]
synonym: "MYL2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110316 {source="MONDO:equivalentTo"}
xref: MESH:C563865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608758 {source="DOID:0110316", source="MONDO:equivalentTo"}
xref: UMLS:C1834460 {source="OMIM:608758", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C563865", source="MONDOLEX:0012112", source="OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110316
property_value: exactMatch http://identifiers.org/mesh/C563865
property_value: exactMatch http://identifiers.org/omim/608758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834460

[Term]
id: MONDO:0012113
name: EIG3
subset: predisposition
synonym: "EIG3" EXACT [MONDO:Lexical, OMIM:608762]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608762]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 3; EIG3" RELATED [OMIM:608762]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" RELATED [OMIM:608762]
xref: OMIM:608762 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:608762"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837468
property_value: exactMatch http://identifiers.org/omim/608762

[Term]
id: MONDO:0012114
name: Ehlers-Danlos syndrome, Beasley-Cohen type
subset: n_of_one {xref="PMID:477010"}
synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" RELATED [OMIM:608763]
synonym: "Ehlers-Danlos syndrome, Beasley-Cohen type" EXACT [OMIM:608763]
xref: MESH:C536199 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608763 {source="MONDO:equivalentTo"}
xref: UMLS:C1837462 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608763"}
is_a: MONDO:0020066 {source="DC-OMIM:608763", source="MESH:C536199", source="MONDOLEX:0012114"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/mesh/C536199
property_value: exactMatch http://identifiers.org/omim/608763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837462

[Term]
id: MONDO:0012115
name: scoliosis, isolated, susceptibility to, 3
subset: predisposition
synonym: "IS3" EXACT [MONDO:Lexical, OMIM:608765]
synonym: "scoliosis, isolated, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608765]
synonym: "scoliosis, isolated, susceptibility to, 3; IS3" RELATED [OMIM:608765]
xref: OMIM:608765 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837461
property_value: exactMatch http://identifiers.org/omim/608765

[Term]
id: MONDO:0012116
name: spinocerebellar ataxia type 8
def: "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." [Orphanet:98760]
subset: ordo_disease {source="Orphanet:98760"}
synonym: "SCA8" EXACT [MONDO:Lexical, OMIM:608768, Orphanet:98760]
synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768]
synonym: "spinocerebellar ataxia 8; SCA8" RELATED [OMIM:608768]
synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768]
xref: DOID:0050959 {source="MONDO:equivalentTo"}
xref: GARD:0004956 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="ORDO:98760/attributed", source="ORDO:98760/ntbt", source="Orphanet:98760"}
xref: OMIM:608768 {source="MONDO:equivalentTo", source="ORDO:98760/e", source="DOID:0050959", source="Orphanet:98760"}
xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"}
xref: SCTID:715753001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1837454 {source="MEDGEN:kboom-pr98-c99", source="OMIM:608768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98760/e", source="Orphanet:98760"}
xref: UMLS:C4275024 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98760"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050959
property_value: exactMatch http://identifiers.org/mesh/C537307
property_value: exactMatch http://identifiers.org/omim/608768
property_value: exactMatch http://identifiers.org/snomedct/715753001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275024
property_value: exactMatch Orphanet:98760

[Term]
id: MONDO:0012117
name: ALG9-CDG
def: "(11q23)." [Orphanet:79328]
subset: ordo_disease {source="Orphanet:79328"}
synonym: "ALG9-CDG (CDG-IL)" RELATED [GARD:0009839]
synonym: "carbohydrate deficient glycoprotein syndrome type 1L" EXACT [Orphanet:79328]
synonym: "carbohydrate deficient glycoprotein syndrome type IL" RELATED [GARD:0009839]
synonym: "CDG 1L" RELATED [GARD:0009839]
synonym: "CDG IL" RELATED [OMIM:608776]
synonym: "CDG syndrome type IL" EXACT [Orphanet:79328]
synonym: "CDG-IL" EXACT [Orphanet:79328]
synonym: "CDG1L" EXACT [MONDO:Lexical, OMIM:608776, Orphanet:79328]
synonym: "congenital disorder of glycosylation type 1L" EXACT [Orphanet:79328]
synonym: "congenital disorder of glycosylation type IL" RELATED [GARD:0009839]
synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, OMIM:608776]
synonym: "congenital disorder of glycosylation, type IL; CDG1L" RELATED [OMIM:608776]
synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328]
xref: GARD:0009839 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:79328", source="ORDO:79328/attributed", source="ORDO:79328/ntbt"}
xref: MESH:C535750 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608776 {source="ORDO:79328/e", source="Orphanet:79328", source="MONDO:equivalentTo"}
xref: Orphanet:79328 {source="MONDO:equivalentTo", source="OMIM:608776"}
xref: SCTID:720978005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.79"}
xref: UMLS:C2931006 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79328", source="MONDO:equivalentTo", source="OMIM:608776"}
is_a: MONDO:0005500 {source="DC-OMIM:608776", source="MONDOLEX:0012117"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation
is_a: MONDO:0018287 {source="Orphanet:79328"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:79328"} ! congenital disorder of glycosylation with hepatic involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837438
property_value: exactMatch http://identifiers.org/mesh/C535750
property_value: exactMatch http://identifiers.org/omim/608776
property_value: exactMatch http://identifiers.org/snomedct/720978005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931006
property_value: exactMatch Orphanet:79328

[Term]
id: MONDO:0012118
name: COG7-CDG
def: "COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." [Orphanet:79333]
subset: ordo_disease {source="Orphanet:79333"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333]
synonym: "CDG 2E" RELATED [GARD:0009842]
synonym: "CDG IIe" RELATED [OMIM:608779]
synonym: "CDG syndrome type IIe" EXACT [Orphanet:79333]
synonym: "CDG-IIe" EXACT [Orphanet:79333]
synonym: "CDG2E" EXACT [MONDO:Lexical, OMIM:608779, Orphanet:79333]
synonym: "COG7-CDG (CDG-IIe)" RELATED [GARD:0009842]
synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333]
synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333]
synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779]
synonym: "congenital disorder of glycosylation, type IIe; CDG2E" RELATED [OMIM:608779]
xref: GARD:0009842 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79333/attributed", source="ORDO:79333/ntbt", source="Orphanet:79333"}
xref: MESH:C535754 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608779 {source="MONDO:equivalentTo", source="ORDO:79333/e", source="Orphanet:79333"}
xref: Orphanet:79333 {source="OMIM:608779", source="MONDO:equivalentTo"}
xref: SCTID:717773005 {source="MONDO:kboom-pr-1.00/0.79/7.99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005501 {source="DC-OMIM:608779", source="MONDOLEX:0012118", source="OMIM:608779"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:79333"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018287 {source="Orphanet:79333"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018290 {source="Orphanet:79333"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0018293 {source="Orphanet:79333"} ! congenital disorder of glycosylation with skin involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837437
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931010
property_value: exactMatch http://identifiers.org/mesh/C535754
property_value: exactMatch http://identifiers.org/omim/608779
property_value: exactMatch http://identifiers.org/snomedct/717773005
property_value: exactMatch Orphanet:79333

[Term]
id: MONDO:0012119
name: ASPG3
subset: predisposition
synonym: "ASPERGER syndrome, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608781]
synonym: "ASPERGER syndrome, susceptibility to, 3; ASPG3" RELATED [OMIM:608781]
synonym: "ASPG3" EXACT [MONDO:Lexical, OMIM:608781]
xref: OMIM:608781 {source="MONDO:equivalentTo"}
xref: UMLS:C1837434 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608781"}
is_a: MONDO:0005259 {source="DC-OMIM:608781", source="OMIM:608781"} ! Asperger syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/608781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837434

[Term]
id: MONDO:0012120
name: pyruvate dehydrogenase phosphatase deficiency
def: "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." [Orphanet:79246]
subset: gard_rare {source="GARD:0009888"}
subset: ordo_clinical_subtype {source="Orphanet:79246"}
synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [OMIM:608782]
synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246]
synonym: "PDHPD" RELATED [MONDO:Lexical, OMIM:608782]
synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT [MONDO:Lexical, OMIM:608782]
synonym: "pyruvate dehydrogenase phosphatase deficiency; PDHPD" RELATED [OMIM:608782]
xref: GARD:0009888 {source="MONDO:equivalentTo"}
xref: ICD10:E74.4 {source="ORDO:79246/attributed", source="ORDO:79246/ntbt", source="Orphanet:79246"}
xref: MESH:C536258 {source="MONDO:equivalentTo", source="ORDO:79246/e", source="MONDO:ontobio", source="Orphanet:79246"}
xref: OMIM:608782 {source="MONDO:equivalentTo", source="ORDO:79246/e", source="Orphanet:79246"}
xref: Orphanet:79246 {source="MONDO:equivalentTo", source="OMIM:608782"}
xref: UMLS:C1837429 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79246/e", source="MEDGEN:kboom-pr92-c96", source="OMIM:608782", source="Orphanet:79246"}
is_a: MONDO:0019169 {source="DC-OMIM:608782", source="OMIM:608782", source="Orphanet:79246"} ! pyruvate dehydrogenase deficiency
property_value: exactMatch http://identifiers.org/mesh/C536258
property_value: exactMatch http://identifiers.org/omim/608782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837429
property_value: exactMatch Orphanet:79246
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency xsd:anyURI {source="GARD:0009888"}

[Term]
id: MONDO:0012121
name: OTSC5
synonym: "otosclerosis 5" RELATED [MONDO:Lexical, OMIM:608787]
synonym: "otosclerosis 5; OTSC5" RELATED [OMIM:608787]
synonym: "OTSC5" EXACT [MONDO:Lexical, OMIM:608787]
xref: MESH:C563858 {source="MONDO:equivalentTo"}
xref: OMIM:608787 {source="MONDO:equivalentTo"}
xref: UMLS:C1837422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608787"}
is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C563858
property_value: exactMatch http://identifiers.org/omim/608787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837422

[Term]
id: MONDO:0012122
name: MYMY3
synonym: "Moyamoya disease 3" RELATED [MONDO:Lexical, OMIM:608796]
synonym: "Moyamoya disease 3; MYMY3" RELATED [OMIM:608796]
synonym: "MYMY3" EXACT [MONDO:Lexical, OMIM:608796]
xref: MESH:C536993 {source="MONDO:equivalentTo"}
xref: OMIM:608796 {source="MONDO:equivalentTo"}
xref: UMLS:C1837418 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608796"}
is_a: MONDO:0016820 {source="DC-OMIM:608796", source="MESH:C536993", source="OMIM:608796"} ! Moyamoya disease
property_value: exactMatch http://identifiers.org/mesh/C536993
property_value: exactMatch http://identifiers.org/omim/608796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837418

[Term]
id: MONDO:0012123
name: congenital disorder of glycosylation type 1E
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." [Orphanet:79322]
subset: ordo_disease {source="Orphanet:79322"}
synonym: "carbohydrate deficient glycoprotein syndrome type Ie" EXACT [Orphanet:79322]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1E" RELATED [GARD:0009831]
synonym: "CDG 1E" RELATED [GARD:0009831]
synonym: "CDG Ie" RELATED [OMIM:608799]
synonym: "CDG syndrome type Ie" EXACT [Orphanet:79322]
synonym: "CDG-Ie" EXACT [Orphanet:79322]
synonym: "CDG1E" EXACT [MONDO:Lexical, OMIM:608799, Orphanet:79322]
synonym: "CDGIe" EXACT [NCIT:C126871]
synonym: "congenital disorder of glycosylation caused by mutation in DPM1" EXACT [MONDO:design_pattern]
synonym: "congenital disorder of glycosylation type 1e" EXACT [Orphanet:79322]
synonym: "congenital disorder of glycosylation type Ie" EXACT [Orphanet:79322]
synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical, OMIM:608799]
synonym: "congenital disorder of glycosylation, type Ie; CDG1E" RELATED [OMIM:608799]
synonym: "Dol-P-mannosyltransferase deficiency" EXACT [Orphanet:79322]
synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DPM1-CDG" RELATED [Orphanet:79322]
synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831]
xref: GARD:0009831 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79322/attributed", source="ORDO:79322/ntbt", source="Orphanet:79322"}
xref: MESH:C535743 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126871 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.42"}
xref: OMIM:608799 {source="MONDO:equivalentTo", source="ORDO:79322/e", source="Orphanet:79322"}
xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"}
xref: SCTID:725078006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:608799", source="MONDOLEX:0012123"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation
is_a: MONDO:0018287 {source="Orphanet:79322"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837396
property_value: exactMatch http://identifiers.org/mesh/C535743
property_value: exactMatch http://identifiers.org/omim/608799
property_value: exactMatch http://identifiers.org/snomedct/725078006
property_value: exactMatch NCIT:C126871
property_value: exactMatch Orphanet:79322

[Term]
id: MONDO:0012124
name: sudden infant death-dysgenesis of the testes syndrome
def: "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." [Orphanet:168593]
subset: ordo_malformation_syndrome {source="Orphanet:168593"}
synonym: "SIDDT" EXACT [MONDO:Lexical, OMIM:608800, Orphanet:168593]
synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382]
synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800]
synonym: "sudden infant death with dysgenesis of the testes syndrome; SIDDT" RELATED [OMIM:608800]
xref: GARD:0012382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G90.8 {source="ORDO:168593/attributed", source="ORDO:168593/ntbt", source="Orphanet:168593"}
xref: MESH:C563856 {source="MONDO:equivalentTo"}
xref: OMIM:608800 {source="MONDO:equivalentTo", source="ORDO:168593/e", source="Orphanet:168593"}
xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"}
xref: UMLS:C1837371 {source="OMIM:608800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168593"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disease
is_a: MONDO:0020042 {source="Orphanet:168593"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C563856
property_value: exactMatch http://identifiers.org/omim/608800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837371
property_value: exactMatch Orphanet:168593

[Term]
id: MONDO:0012125
name: hypomyelinating leukodystrophy 2
def: "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:280282"}
synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD2" EXACT [DOID:0060787, MONDO:Lexical, OMIM:608804]
synonym: "hypomyelinating leukodystrophy type 2" EXACT [DOID:0060787, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical, OMIM:608804]
synonym: "leukodystrophy, hypomyelinating, 2; HLD2" RELATED [OMIM:608804]
synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1, OMIM:608804]
synonym: "Pelizaeus-Merzbacher-like disease 1" EXACT [DOID:0060787]
synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:0060787]
synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804]
synonym: "PMLD1" EXACT [DOID:0060787, Orphanet:280282]
xref: DOID:0060787 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:280282", source="DOID:0060787", source="ORDO:280282/attributed", source="ORDO:280282/ntbt"}
xref: MESH:C563855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608804 {source="ORDO:280282/e", source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo"}
xref: Orphanet:280282 {source="OMIM:608804", source="DOID:0060787", source="MONDO:equivalentTo"}
xref: UMLS:C1837355 {source="MEDGEN:kboom-pr98-c99", source="OMIM:608804", source="NCBI:mim2gene_medline", source="Orphanet:280282", source="MONDO:equivalentTo"}
is_a: MONDO:0017226 {source="Orphanet:280282"} ! Pelizaeus-Merzbacher-like disease
property_value: exactMatch DOID:0060787
property_value: exactMatch http://identifiers.org/mesh/C563855
property_value: exactMatch http://identifiers.org/omim/608804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837355
property_value: exactMatch Orphanet:280282

[Term]
id: MONDO:0012126
name: familial avascular necrosis of femoral head
def: "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." [Orphanet:86820]
subset: gard_rare {source="GARD:0010914"}
subset: ordo_disease {source="Orphanet:86820"}
subset: prototype_pattern
synonym: "ANFH" RELATED [MONDO:Lexical, OMIM:608805]
synonym: "ANFH1" RELATED [OMIM:608805]
synonym: "aseptic Necrosis of femoral head" EXACT [NCIT:C35480]
synonym: "aseptic Necrosis of head of femur" EXACT [NCIT:C35480]
synonym: "avascular NECROSIS of femoral head, primary" RELATED [MONDO:Lexical, OMIM:608805]
synonym: "avascular Necrosis of femoral head, primary, 1" RELATED [OMIM:608805]
synonym: "avascular NECROSIS of femoral head, primary, 1; ANFH1" RELATED [OMIM:608805]
synonym: "avascular NECROSIS of femoral head, primary; ANFH" RELATED [OMIM:608805]
synonym: "familial avascular necrosis of the femoral head" RELATED [GARD:0010914]
synonym: "familial osteonecrosis of the femoral head" EXACT [Orphanet:86820]
synonym: "femoral head, aseptic Necrosis of" RELATED [OMIM:608805]
synonym: "femoral head, avascular Necrosis of" RELATED [OMIM:608805]
synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805]
synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805]
synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914]
xref: GARD:0010914 {source="MONDO:equivalentTo"}
xref: ICD10:M87.8 {source="Orphanet:86820", source="ORDO:86820/attributed", source="ORDO:86820/ntbt"}
xref: MESH:D005271 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C35480 {source="MONDO:kboom-pr-0.67/0.31/0.11", source="MONDO:equivalentTo"}
xref: OMIMPS:608805 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:86820 {source="MONDO:equivalentTo", source="OMIM:608805"}
xref: SCTID:715657008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN206226 {source="MONDO:equivalentTo"}
is_a: MONDO:0018379 {source="MONDOLEX:0012126", source="Orphanet:86820"} ! primary avascular necrosis
is_a: MONDO:0018384 {source="MONDO:Redundant", source="Orphanet:86820"} ! avascular necrosis of genetic origin
is_a: MONDO:0019686 {source="Orphanet:86820"} ! type 2 collagen-related bone disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0410480
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524595
property_value: exactMatch http://identifiers.org/mesh/D005271
property_value: exactMatch http://identifiers.org/omim/608805
property_value: exactMatch http://identifiers.org/snomedct/715657008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206226
property_value: exactMatch NCIT:C35480
property_value: exactMatch Orphanet:86820
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head xsd:anyURI {source="GARD:0010914"}

[Term]
id: MONDO:0012127
name: autosomal recessive limb-girdle muscular dystrophy type 2J
def: "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." [Orphanet:140922]
subset: ordo_disease {source="Orphanet:140922"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "LGMD2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807, Orphanet:140922]
synonym: "limb-girdle muscular dystrophy type 2J" RELATED [GARD:0012534]
synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807]
synonym: "muscular dystrophy, limb-girdle, type 2J; LGMD2J" RELATED [OMIM:608807]
synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110283 {source="MONDO:equivalentTo"}
xref: GARD:0012534 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110283", source="ORDO:140922/attributed", source="ORDO:140922/ntbt", source="Orphanet:140922"}
xref: MESH:C563854 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608807 {source="MONDO:equivalentTo", source="DOID:0110283", source="ORDO:140922/e", source="Orphanet:140922"}
xref: Orphanet:140922 {source="MONDO:equivalentTo", source="DOID:0110283", source="OMIM:608807"}
xref: UMLS:C1837342 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608807", source="Orphanet:140922"}
is_a: MONDO:0015152 {source="DOID:0110283", source="MONDO:Redundant", source="MONDOLEX:0012127", source="OMIM:608807", source="Orphanet:140922"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016191 {source="Orphanet:140922"} ! qualitative or quantitative defects of titin
property_value: exactMatch DOID:0110283
property_value: exactMatch http://identifiers.org/mesh/C563854
property_value: exactMatch http://identifiers.org/omim/608807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837342
property_value: exactMatch Orphanet:140922

[Term]
id: MONDO:0012128
name: dextro-looped transposition of the great arteries 1
def: "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "D-TGA" RELATED [OMIM:608808]
synonym: "dextro-looped transposition of the great arteries caused by mutation in MED13L" EXACT [MONDO:design_pattern]
synonym: "dextro-looped transposition of the great arteries type 1" EXACT [DOID:0060771, MONDORULE:1]
synonym: "DTGA1" EXACT [DOID:0060771, MONDO:Lexical, OMIM:608808]
synonym: "MED13L dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "transposition of the great arteries, dextro-looped 1" RELATED [MONDO:Lexical, OMIM:608808]
synonym: "transposition of the great arteries, dextro-looped 1; DTGA1" RELATED [OMIM:608808]
synonym: "transposition of the great arteries, dextro-looped type 1" EXACT [MONDORULE:1, OMIM:608808]
xref: DOID:0060771 {source="MONDO:equivalentTo"}
xref: GARD:0007795 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q20.3 {source="DOID:0060771"}
xref: MESH:C563853 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608808 {source="DOID:0060771", source="MONDO:equivalentTo"}
xref: UMLS:C1837341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608808"}
is_a: MONDO:0019443 {source="DOID:0060771", source="MONDO:Redundant", source="MONDOLEX:0012128", source="OMIM:608808"} ! dextro-looped transposition of the great arteries
property_value: exactMatch DOID:0060771
property_value: exactMatch http://identifiers.org/mesh/C563853
property_value: exactMatch http://identifiers.org/omim/608808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837341

[Term]
id: MONDO:0012129
name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
subset: gard_rare {source="GARD:0010065"}
synonym: "LACH" RELATED [MONDO:Lexical, OMIM:608809]
synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" EXACT [MONDO:Lexical, OMIM:608809]
synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema; LACH" RELATED [OMIM:608809]
xref: GARD:0010065 {source="MONDO:equivalentTo"}
xref: MESH:C563852 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608809 {source="MONDO:equivalentTo"}
xref: UMLS:C1837329 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608809"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563852
property_value: exactMatch http://identifiers.org/omim/608809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema xsd:anyURI {source="GARD:0010065"}

[Term]
id: MONDO:0012130
name: myofibrillar myopathy 2
def: "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:399058"}
synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058]
synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093]
synonym: "autosomal dominant distal myopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
synonym: "CRYAB autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "late-onset distal crystallinopathy" EXACT [Orphanet:399058]
synonym: "MFM2" RELATED [MONDO:Lexical, OMIM:608810]
synonym: "myofibrillar myopathy type 2" EXACT [DOID:0080093, MONDORULE:1]
synonym: "myopathy, desmin-related, associated with mutation in the Cryab Gene" RELATED [OMIM:608810]
synonym: "myopathy, myofibrillar, 2" RELATED [MONDO:Lexical, OMIM:608810]
synonym: "myopathy, myofibrillar, 2; MFM2" RELATED [OMIM:608810]
synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:608810]
synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810]
synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810]
xref: DOID:0080093 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:399058", source="ORDO:399058/attributed", source="ORDO:399058/ntbt"}
xref: MESH:C563848 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608810 {source="ORDO:399058/e", source="Orphanet:399058", source="MONDO:equivalentTo", source="DOID:0080093"}
xref: Orphanet:399058 {source="MONDO:equivalentTo"}
xref: UMLS:C1837317 {source="OMIM:608810", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:399058"} ! autosomal dominant distal myopathy
is_a: MONDO:0020343 {source="Orphanet:399058"} ! alpha-crystallinopathy
property_value: exactMatch DOID:0080093
property_value: exactMatch http://identifiers.org/mesh/C563848
property_value: exactMatch http://identifiers.org/omim/608810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837317
property_value: exactMatch Orphanet:399058

[Term]
id: MONDO:0012131
name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth
subset: gard_rare {source="GARD:0010066"}
synonym: "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" EXACT [OMIM:608811]
synonym: "overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome" EXACT [Orphanet:498485]
xref: GARD:0010066 {source="MONDO:equivalentTo"}
xref: MESH:C537355 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608811 {source="MONDO:equivalentTo"}
xref: Orphanet:498485 {source="MONDO:equivalentTo"}
xref: UMLS:C1837316 {source="OMIM:608811", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C537355/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537355
property_value: exactMatch http://identifiers.org/omim/608811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837316
property_value: exactMatch Orphanet:498485
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth xsd:anyURI {source="GARD:0010066"}

[Term]
id: MONDO:0012132
name: colorectal cancer, susceptibility to, 1
def: "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [OMIM:608812]
synonym: "colorectal cancer caused by mutation in GALNT12" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:608812]
synonym: "colorectal cancer, susceptibility to, 1; CRCS1" RELATED [OMIM:608812]
synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [OMIM:608812]
synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608812]
synonym: "CRCS1" RELATED [MONDO:Lexical, OMIM:608812]
synonym: "GALNT12 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 1" RELATED [OMIM:608812]
xref: OMIM:608812 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837315
property_value: exactMatch http://identifiers.org/omim/608812

[Term]
id: MONDO:0012133
name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities
subset: gard_rare {source="GARD:0010067"}
synonym: "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" EXACT [OMIM:608814]
xref: GARD:0010067 {source="MONDO:equivalentTo"}
xref: MESH:C537879 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608814 {source="MONDO:equivalentTo"}
xref: UMLS:C1837314 {source="NCBI:mim2gene_medline", source="OMIM:608814", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537879
property_value: exactMatch http://identifiers.org/omim/608814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities xsd:anyURI {source="GARD:0010067"}

[Term]
id: MONDO:0012134
name: EJM3
subset: predisposition
synonym: "EJM3" EXACT [MONDO:Lexical, OMIM:608816]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608816]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 3; EJM3" RELATED [OMIM:608816]
xref: OMIM:608816 {source="MONDO:equivalentTo"}
xref: UMLS:C1837308 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608816"}
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/608816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837308

[Term]
id: MONDO:0012135
name: restless legs syndrome, susceptibility to, 2
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 2" RELATED [OMIM:608831]
synonym: "restless legs syndrome, susceptibility to, 2; RLS2" RELATED [OMIM:608831]
synonym: "RLS2" EXACT [MONDO:Lexical, OMIM:608831]
xref: GARD:0009710 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:608831 {source="MONDO:equivalentTo"}
xref: UMLS:C1837285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608831"}
is_a: MONDO:0005391 {source="DC-OMIM:608831", source="MONDOLEX:0012135", source="OMIM:608831"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/608831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837285

[Term]
id: MONDO:0012136
name: carnitine palmitoyl transferase II deficiency, neonatal form
def: "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." [Orphanet:228308]
subset: ordo_clinical_subtype {source="Orphanet:228308"}
synonym: "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" EXACT [Orphanet:228308]
synonym: "Carnitine palmitoyl transferase deficiency type 2, neonatal form" EXACT [Orphanet:228308]
synonym: "Carnitine palmitoyl transferase II deficiency, lethal systemic form" EXACT [Orphanet:228308]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, antenatal" RELATED [OMIM:608836]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, neonatal" RELATED [OMIM:608836]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "CPT 2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "Cpt2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308]
synonym: "CPT2, neonatal form" EXACT [Orphanet:228308]
synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308]
synonym: "CPTII, neonatal form" EXACT [Orphanet:228308]
xref: ICD10:E71.3 {source="Orphanet:228308", source="ORDO:228308/attributed", source="ORDO:228308/ntbt"}
xref: MESH:C563463 {source="MONDO:equivalentTo"}
xref: OMIM:608836 {source="Orphanet:228308", source="ORDO:228308/e", source="MONDO:equivalentTo"}
xref: Orphanet:228308 {source="OMIM:608836", source="MONDO:equivalentTo"}
xref: UMLS:C1833518 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:228308", source="NCBI:mim2gene_medline", source="OMIM:608836", source="MONDO:equivalentTo"}
is_a: MONDO:0015515 {source="DC-OMIM:608836", source="Orphanet:228308"} ! carnitine palmitoyltransferase II deficiency
property_value: exactMatch http://identifiers.org/mesh/C563463
property_value: exactMatch http://identifiers.org/omim/608836
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833518
property_value: exactMatch Orphanet:228308

[Term]
id: MONDO:0012137
name: Carney complex - trismus - pseudocamptodactyly syndrome
def: "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." [Orphanet:319340]
subset: ordo_disease {source="Orphanet:319340"}
synonym: "CARNEY complex variant" RELATED [OMIM:608837]
synonym: "Carney complex variant" EXACT [Orphanet:319340]
xref: ICD10:Q68.8 {source="ORDO:319340/attributed", source="ORDO:319340/ntbt", source="Orphanet:319340"}
xref: OMIM:608837 {source="ORDO:319340/e", source="MONDO:equivalentTo", source="Orphanet:319340"}
xref: Orphanet:319340 {source="OMIM:608837", source="MONDO:equivalentTo"}
is_a: MONDO:0015285 {source="DC-OMIM:608837"} ! Carney complex
is_a: MONDO:0016432 {source="Orphanet:319340"} ! heart-hand syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837245
property_value: exactMatch http://identifiers.org/omim/608837
property_value: exactMatch Orphanet:319340

[Term]
id: MONDO:0012138
name: muscular dystrophy-dystroglycanopathy type B6
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." [DOID:0110637, PMID:12966029, PMID:19067344]
synonym: "congenital muscular dystrophy large-related" EXACT [DOID:0110637]
synonym: "congenital muscular dystrophy type 1D" EXACT [DOID:0110637]
synonym: "MDC1D" EXACT [DOID:0110637]
synonym: "MDDGB6" EXACT [DOID:0110637, MONDO:Lexical, OMIM:608840]
synonym: "muscular dystrophy, congenital, large-related" RELATED [OMIM:608840]
synonym: "muscular dystrophy, congenital, type 1D" RELATED [OMIM:608840]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT [DOID:0110637, MONDO:Lexical, OMIM:608840]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6" RELATED [OMIM:608840]
xref: DOID:0110637 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="DOID:0110637"}
xref: MESH:C563844 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608840 {source="DOID:0110637", source="MONDO:equivalentTo"}
xref: Orphanet:98894 {source="DOID:0110637", source="MONDO:obsoleteEquivalent", source="OMIM:608840"}
xref: UMLS:C1837229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608840"}
is_a: MONDO:0000172 {source="DC-OMIM:608840", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B
property_value: exactMatch DOID:0110637
property_value: exactMatch http://identifiers.org/mesh/C563844
property_value: exactMatch http://identifiers.org/omim/608840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837229
property_value: exactMatch Orphanet:98894

[Term]
id: MONDO:0012139
name: macular dystrophy, retinal, 3
synonym: "macular dystrophy, retinal, 3" EXACT [OMIM:608850]
synonym: "macular dystrophy, retinal, 3; MCDR3" RELATED [OMIM:608850]
synonym: "macular dystrophy, retinal, type 3" EXACT [MONDORULE:1, OMIM:608850]
synonym: "Mcdr3" RELATED [OMIM:608850]
xref: OMIM:608850 {source="MONDO:equivalentTo"}
xref: UMLS:C3888009 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020242 ! genetic macular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1426774
property_value: exactMatch http://identifiers.org/omim/608850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888009

[Term]
id: MONDO:0012140
name: obsolete pulmonary function
synonym: "lung function, accelerated rate of decline In, smoking-related" RELATED [OMIM:608852]
synonym: "Plf" RELATED [OMIM:608852]
synonym: "pulmonary function" RELATED [OMIM:608852]
xref: OMIM:608852 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160731
property_value: exactMatch http://identifiers.org/omim/608852
is_obsolete: true

[Term]
id: MONDO:0012141
name: orofacial cleft 6, susceptibility to
def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864]
synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC6" RELATED [MONDO:Lexical, OMIM:608864]
synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:608864]
synonym: "orofacial cleft 6, susceptibility to; OFC6" RELATED [OMIM:608864]
synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern]
synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864]
xref: OMIM:608864 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000358 ! orofacial cleft
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837213
property_value: exactMatch http://identifiers.org/omim/608864

[Term]
id: MONDO:0012142
name: orofacial cleft 5
def: "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874]
synonym: "MSX1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC5" RELATED [MONDO:Lexical, OMIM:608874]
synonym: "orofacial cleft 5" EXACT [MONDO:Lexical, OMIM:608874]
synonym: "orofacial cleft 5; OFC5" RELATED [OMIM:608874]
synonym: "orofacial cleft caused by mutation in MSX1" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 5" EXACT [MONDORULE:1, OMIM:608874]
xref: MESH:C563843 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608874 {source="MONDO:equivalentTo"}
xref: UMLS:C1837210 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608874"}
is_a: MONDO:0015420 {source="ORDO:141291/btnt"} ! cleft lip and alveolus
is_a: MONDO:0016043 {source="ORDO:199302/btnt"} ! isolated cleft lip
is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate
property_value: exactMatch http://identifiers.org/mesh/C563843
property_value: exactMatch http://identifiers.org/omim/608874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837210

[Term]
id: MONDO:0012143
name: hereditary cryohydrocytosis with reduced stomatin
subset: ordo_disease {source="Orphanet:168577"}
synonym: "ChC type 2" EXACT [Orphanet:168577]
synonym: "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" RELATED [OMIM:608885]
synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" RELATED [OMIM:608885]
synonym: "hereditary cryohydrocytosis type 2" EXACT [Orphanet:168577]
synonym: "sdCHC" EXACT [Orphanet:168577]
synonym: "SDCHCN" RELATED [OMIM:608885]
synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577]
synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885]
synonym: "stomatin-deficient cryohydrocytosis with neurologic defects; SDCHCN" RELATED [OMIM:608885]
xref: ICD10:D58.8 {source="Orphanet:168577", source="ORDO:168577/attributed", source="ORDO:168577/ntbt"}
xref: MESH:C563840 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608885 {source="ORDO:168577/e", source="Orphanet:168577", source="MONDO:equivalentTo"}
xref: Orphanet:168577 {source="MONDO:equivalentTo", source="OMIM:608885"}
xref: UMLS:C1837206 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:168577", source="MONDO:equivalentTo", source="OMIM:608885"}
is_a: MONDO:0000508 {source="Orphanet:168577"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020102 {source="Orphanet:168577"} ! hereditary stomatocytosis
property_value: exactMatch http://identifiers.org/mesh/C563840
property_value: exactMatch http://identifiers.org/omim/608885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837206
property_value: exactMatch Orphanet:168577

[Term]
id: MONDO:0012144
name: Waardenburg syndrome type 2D
def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SNAI2 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in SNAI2" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type IID" EXACT [DOID:0110952]
synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical, OMIM:608890]
synonym: "Waardenburg syndrome, type 2D; WS2D" RELATED [OMIM:608890]
synonym: "WS2D" EXACT [DOID:0110952, MONDO:Lexical, OMIM:608890]
xref: DOID:0110952 {source="MONDO:equivalentTo"}
xref: MESH:C563839 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608890 {source="DOID:0110952", source="MONDO:equivalentTo"}
xref: UMLS:C1837203 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608890"}
is_a: MONDO:0019517 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012144"} ! Waardenburg syndrome type 2
property_value: exactMatch DOID:0110952
property_value: exactMatch http://identifiers.org/mesh/C563839
property_value: exactMatch http://identifiers.org/omim/608890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837203

[Term]
id: MONDO:0012145
name: macular degeneration, age-related, 3
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age-related macular degeneration caused by mutation in FBLN5" EXACT [MONDO:design_pattern]
synonym: "ARMD3" RELATED [MONDO:Lexical, OMIM:608895]
synonym: "FBLN5 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HNARMD" RELATED [OMIM:608895]
synonym: "macular degeneration, age-related, 3" EXACT [MONDO:Lexical, OMIM:608895]
synonym: "macular degeneration, age-related, 3; ARMD3" RELATED [OMIM:608895]
synonym: "macular Degeneration, age-related, type 3" EXACT [MONDORULE:1, OMIM:608895]
synonym: "neuropathy, hereditary, with or without age-related macular Degeneration" RELATED [OMIM:608895]
synonym: "neuropathy, hereditary, with or without age-related macular degeneration; HNARMD" RELATED [OMIM:608895]
xref: MESH:C563838 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608895 {source="MONDO:equivalentTo"}
xref: UMLS:C1837187 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608895"}
is_a: MONDO:0005150 {source="DC-OMIM:608895", source="MONDO:Redundant", source="OMIM:608895"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563838
property_value: exactMatch http://identifiers.org/omim/608895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837187

[Term]
id: MONDO:0012146
name: familial hemophagocytic lymphohistiocytosis 3
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009928"}
synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [DOID:0110923, MONDORULE:1]
synonym: "FHL3" EXACT [DOID:0110923, MONDO:Lexical, OMIM:608898]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 3" RELATED [MONDO:Lexical, OMIM:608898]
synonym: "hemophagocytic lymphohistiocytosis, familial, 3; FHL3" RELATED [OMIM:608898]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:608898]
synonym: "HLH3" EXACT [DOID:0110923]
synonym: "Hlh3" RELATED [OMIM:608898]
synonym: "HPLH3" EXACT [DOID:0110923]
synonym: "Hplh3" RELATED [OMIM:608898]
synonym: "UNC13D genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110923 {source="MONDO:equivalentTo"}
xref: GARD:0009928 {source="MONDO:equivalentTo"}
xref: MESH:C537251 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608898 {source="DOID:0110923", source="MONDO:equivalentTo"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012146", source="OMIM:608898"} ! genetic hemophagocytic lymphohistiocytosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837174
property_value: exactMatch DOID:0110923
property_value: exactMatch http://identifiers.org/mesh/C537251
property_value: exactMatch http://identifiers.org/omim/608898
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3 xsd:anyURI {source="GARD:0009928"}

[Term]
id: MONDO:0012147
name: coronary heart disease, susceptibility to, 5
def: "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Chds5" RELATED [OMIM:608901]
synonym: "coronary artery disease caused by mutation in KALRN" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease, early-onset" RELATED [OMIM:608901]
synonym: "coronary heart disease, susceptibility to, 5" EXACT [OMIM:608901]
synonym: "coronary heart disease, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:608901]
synonym: "KALRN coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to coronary heart disease 5" RELATED [OMIM:608901]
xref: OMIM:608901 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005010 ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837173
property_value: exactMatch http://identifiers.org/omim/608901

[Term]
id: MONDO:0012148
name: obsolete drug metabolism, poor, CYP2D6-related
synonym: "codeine, ultrarapid metabolism of" RELATED [OMIM:608902]
synonym: "debrisoquine, poor metabolism of" RELATED [OMIM:608902]
synonym: "debrisoquine, ultrarapid metabolism of" RELATED [OMIM:608902]
synonym: "drug metabolism, poor, CYP2D6-related" EXACT [OMIM:608902]
synonym: "drug metabolism, ultrarapid, CYP2D6-related" RELATED [OMIM:608902]
synonym: "nortriptyline, poor metabolism of" RELATED [OMIM:608902]
synonym: "sparteine, poor metabolism of" RELATED [OMIM:608902]
xref: EFO:0009161 {source="MONDO:equivalentTo"}
xref: MESH:C563835 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608902 {source="MONDO:equivalentTo"}
xref: UMLS:C1837154 {source="OMIM:608902", source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1827409
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837155
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837156
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837157
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837159
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837160
property_value: exactMatch http://identifiers.org/mesh/C563835
property_value: exactMatch http://identifiers.org/omim/608902
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837154
is_obsolete: true

[Term]
id: MONDO:0012149
name: attention deficit-hyperactivity disorder, susceptibility to, 1
subset: predisposition
synonym: "Adhd1" RELATED [OMIM:608903]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" EXACT [OMIM:608903]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608903]
xref: OMIM:608903 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:608903"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837153
property_value: exactMatch http://identifiers.org/omim/608903

[Term]
id: MONDO:0012150
name: attention deficit-hyperactivity disorder, susceptibility to, 2
subset: predisposition
synonym: "Adhd2" RELATED [OMIM:608904]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" EXACT [OMIM:608904]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608904]
xref: OMIM:608904 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:608904"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837152
property_value: exactMatch http://identifiers.org/omim/608904

[Term]
id: MONDO:0012151
name: attention deficit-hyperactivity disorder, susceptibility to, 3
subset: predisposition
synonym: "Adhd3" RELATED [OMIM:608905]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" EXACT [OMIM:608905]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608905]
xref: OMIM:608905 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:608905"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837151
property_value: exactMatch http://identifiers.org/omim/608905

[Term]
id: MONDO:0012152
name: attention deficit-hyperactivity disorder, susceptibility to, 4
subset: predisposition
synonym: "Adhd4" RELATED [OMIM:608906]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" EXACT [OMIM:608906]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608906]
xref: OMIM:608906 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:608906"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837150
property_value: exactMatch http://identifiers.org/omim/608906

[Term]
id: MONDO:0012153
name: Alzheimer disease 9
synonym: "AD9" EXACT [MONDO:Lexical, OMIM:608907]
synonym: "Alzheimer disease 9" RELATED [MONDO:Lexical, OMIM:608907]
synonym: "Alzheimer disease 9, late-onset" RELATED [OMIM:608907]
synonym: "Alzheimer disease 9, susceptibility to" RELATED [OMIM:608907]
synonym: "Alzheimer disease 9, susceptibility to; AD9" RELATED [OMIM:608907]
synonym: "Alzheimer disease 9; AD9" RELATED [OMIM:608907]
xref: MESH:C563834 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608907 {source="MONDO:equivalentTo"}
xref: UMLS:C1837149 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608907"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015140 ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch http://identifiers.org/mesh/C563834
property_value: exactMatch http://identifiers.org/omim/608907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837149

[Term]
id: MONDO:0012154
name: myopia 6
def: "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009937"}
synonym: "myopia (disease) caused by mutation in SCO2" EXACT []
synonym: "myopia 6" EXACT [MONDO:Lexical, OMIM:608908]
synonym: "myopia 6; MYP6" RELATED [OMIM:608908]
synonym: "myopia type 6" EXACT [MONDORULE:1, OMIM:608908]
synonym: "myopia, susceptibility to" RELATED [GARD:0009937]
synonym: "MYP6" RELATED [MONDO:Lexical, OMIM:608908]
synonym: "SCO2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:0009937 {source="MONDO:equivalentTo"}
xref: MESH:C536105 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608908 {source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:608908", source="MESH:C536105", source="MONDO:Redundant", source="OMIM:608908", source="ORDO:98619/btnt", source="indirect"} ! myopia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0020207"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837148
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2681911
property_value: exactMatch http://identifiers.org/mesh/C536105
property_value: exactMatch http://identifiers.org/omim/608908
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9937/myopia-6 xsd:anyURI {source="GARD:0009937"}

[Term]
id: MONDO:0012155
name: choanal atresia
def: "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." [Orphanet:137914]
subset: ordo_morphological_anomaly {source="Orphanet:137914"}
synonym: "atresia of nares" EXACT [DOID:9574, MTHICD9_2006:748.0]
synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical, OMIM:608911]
synonym: "choanal atresia, POSTERIOR; PCA" RELATED [OMIM:608911]
synonym: "imperforate nares" EXACT [DOID:9574]
synonym: "PCA" RELATED [MONDO:Lexical, OMIM:608911]
synonym: "posterior choanal atresia" EXACT [DOID:9574]
xref: COHD:256810 {source="MONDO:equivalentTo"}
xref: DOID:9574 {source="MONDO:equivalentTo"}
xref: ICD10:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"}
xref: ICD9:748.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9574"}
xref: MedDRA:10008587 {source="Orphanet:137914", source="ORDO:137914/e"}
xref: MESH:D002754 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"}
xref: OMIM:608911 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"}
xref: Orphanet:137914 {source="OMIM:608911", source="MONDO:equivalentTo"}
xref: SCTID:204508009 {source="MONDO:equivalentTo", source="DOID:9574", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002232 {source="DOID:9574", source="linkedlifedata/inferred"} ! nasal cavity disease
is_a: MONDO:0015503 {source="Orphanet:137914"} ! nose and cavum anomaly
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: closeMatch http://identifiers.org/mesh/C562435
property_value: closeMatch http://identifiers.org/snomedct/14988006
property_value: closeMatch http://identifiers.org/snomedct/156934002
property_value: closeMatch http://identifiers.org/snomedct/204509001
property_value: closeMatch http://identifiers.org/snomedct/204514002
property_value: closeMatch http://identifiers.org/snomedct/53458004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220723
property_value: exactMatch DOID:9574
property_value: exactMatch http://identifiers.org/meddra/10008587
property_value: exactMatch http://identifiers.org/mesh/D002754
property_value: exactMatch http://identifiers.org/omim/608911
property_value: exactMatch http://identifiers.org/snomedct/204508009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008297
property_value: exactMatch Orphanet:137914

[Term]
id: MONDO:0012156
name: myasthenic syndrome, congenital, 1B, fast-channel
def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q." [DOID:0110662, PMID:10195214, PMID:15079006, PMID:25792100]
synonym: "CMS1B" EXACT [DOID:0110662]
synonym: "CMS1B" RELATED [MONDO:Lexical, OMIM:608930]
synonym: "congenital myasthenic syndrome 1B" RELATED [DOID:0110662]
synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [DOID:0110662]
synonym: "congenital myasthenic syndrome type 1B" EXACT [DOID:0110662, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 1B, fast-channel" EXACT [MONDO:Lexical, OMIM:608930]
synonym: "myasthenic syndrome, congenital, 1B, FAST-channel; CMS1B" RELATED [OMIM:608930]
xref: DOID:0110662 {source="MONDO:equivalentTo"}
xref: OMIM:608930 {source="MONDO:equivalentTo", source="DOID:0110662"}
xref: UMLS:C1837122 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608930"}
xref: UMLS:C4225405 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011088 ! congenital myasthenic syndrome 1A
property_value: exactMatch DOID:0110662
property_value: exactMatch http://identifiers.org/omim/608930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225405

[Term]
id: MONDO:0012157
name: congenital myasthenic syndrome 4C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110679, PMID:25792100, PMID:8957026]
synonym: "CMS Id" EXACT [DOID:0110679]
synonym: "Cms Id" RELATED [OMIM:608931]
synonym: "Cms Id, formerly" RELATED [OMIM:608931]
synonym: "CMS1D" EXACT [DOID:0110679]
synonym: "CMS4C" EXACT [DOID:0110679, MONDO:Lexical, OMIM:608931]
synonym: "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency" EXACT [DOID:0110679]
synonym: "congenital myasthenic syndrome associated with acetylcholine receptor deficiency" RELATED [GARD:0010108]
synonym: "congenital myasthenic syndrome type 4C" EXACT [DOID:0110679, MONDORULE:4]
synonym: "congenital myasthenic syndrome type Id" EXACT [DOID:0110679]
synonym: "familial infantile myasthenia 1" EXACT [DOID:0110679]
synonym: "FIM1" EXACT [DOID:0110679]
synonym: "myasthenia, familial infantile, 1" RELATED [OMIM:608931]
synonym: "myasthenia, familial infantile, 1, formerly" RELATED [OMIM:608931]
synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:608931]
synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C" RELATED [OMIM:608931]
synonym: "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" RELATED [GARD:0010108]
synonym: "myasthenic syndrome, congenital, type Id" RELATED [OMIM:608931]
xref: DOID:0110679 {source="MONDO:equivalentTo"}
xref: GARD:0010108 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:608931 {source="DOID:0110679", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837091
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837092
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837094
property_value: exactMatch DOID:0110679
property_value: exactMatch http://identifiers.org/omim/608931

[Term]
id: MONDO:0012158
name: KTCN2
synonym: "keratoconus 2" RELATED [MONDO:Lexical, OMIM:608932]
synonym: "keratoconus 2; KTCN2" RELATED [OMIM:608932]
synonym: "KTCN2" EXACT [MONDO:Lexical, OMIM:608932]
xref: MESH:C563827 {source="MONDO:equivalentTo"}
xref: OMIM:608932 {source="MONDO:equivalentTo"}
xref: UMLS:C1837090 {source="OMIM:608932", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DC-OMIM:608932", source="MESH:C563827", source="OMIM:608932"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/mesh/C563827
property_value: exactMatch http://identifiers.org/omim/608932
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837090

[Term]
id: MONDO:0012159
name: LNCR1
synonym: "LNCR1" EXACT [MONDO:Lexical, OMIM:608935]
synonym: "lung cancer susceptibility 1" RELATED [MONDO:Lexical, OMIM:608935]
synonym: "lung cancer susceptibility 1; LNCR1" RELATED [OMIM:608935]
xref: OMIM:608935 {source="MONDO:equivalentTo"}
xref: UMLS:C1837089 {source="NCBI:mim2gene_medline", source="OMIM:608935", source="MONDO:equivalentTo"}
is_a: MONDO:0008903 {source="DC-OMIM:608935", source="MONDOLEX:0012159"} ! lung cancer
property_value: exactMatch http://identifiers.org/omim/608935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837089

[Term]
id: MONDO:0012160
name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
def: "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." [Orphanet:85167]
subset: ordo_disease {source="Orphanet:85167"}
synonym: "SmD-CRD" EXACT [Orphanet:85167]
synonym: "SMDCRD" RELATED [MONDO:Lexical, OMIM:608940]
synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940]
synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy; SMDCRD" RELATED [OMIM:608940]
xref: GARD:0010647 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.8 {source="Orphanet:85167", source="ORDO:85167/attributed", source="ORDO:85167/ntbt"}
xref: MESH:C563825 {source="MONDO:equivalentTo"}
xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="ORDO:85167/e"}
xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"}
xref: UMLS:C1837073 {source="Orphanet:85167", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608940"}
is_a: MONDO:0016763 {source="MONDOLEX:0012160", source="Orphanet:85167"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C563825
property_value: exactMatch http://identifiers.org/omim/608940
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837073
property_value: exactMatch Orphanet:85167

[Term]
id: MONDO:0012161
name: susceptibility to respiratory infections associated with CD8alpha chain mutation
def: "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." [Orphanet:169085]
subset: ordo_disease {source="Orphanet:169085"}
subset: predisposition
synonym: "CD8 deficiency, familial" RELATED [OMIM:608957]
synonym: "familial CD8 deficiency" EXACT [Orphanet:169085]
xref: ICD10:D84.8 {source="ORDO:169085/attributed", source="ORDO:169085/ntbt", source="Orphanet:169085"}
xref: MESH:C563824 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608957 {source="MONDO:equivalentTo", source="Orphanet:169085", source="ORDO:169085/e"}
xref: Orphanet:169085 {source="OMIM:608957", source="MONDO:equivalentTo"}
xref: SCTID:766983005 {source="MONDO:equivalentTo"}
xref: UMLS:C1837065 {source="NCBI:mim2gene_medline", source="OMIM:608957", source="MONDO:equivalentTo", source="Orphanet:169085", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018814 {source="Orphanet:169085"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C563824
property_value: exactMatch http://identifiers.org/omim/608957
property_value: exactMatch http://identifiers.org/snomedct/766983005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837065
property_value: exactMatch Orphanet:169085

[Term]
id: MONDO:0012162
name: patterned macular dystrophy 2
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [DOID:0060864]
synonym: "CTNNA1 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [OMIM:608970]
synonym: "macular dystrophy, patterned, 2" RELATED [OMIM:608970]
synonym: "macular dystrophy, patterned, 2; MDPT2" RELATED [OMIM:608970]
synonym: "macular dystrophy, patterned, type 2" EXACT [MONDORULE:1, OMIM:608970]
synonym: "MDPT2" EXACT [DOID:0060864]
synonym: "patterned macular dystrophy caused by mutation in CTNNA1" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 2" EXACT [DOID:0060864, MONDORULE:1]
xref: DOID:0060864 {source="MONDO:equivalentTo"}
xref: OMIM:608970 {source="DOID:0060864", source="MONDO:equivalentTo"}
xref: UMLS:C1837029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608970"}
is_a: MONDO:0020381 {source="DOID:0060864", source="MONDO:Redundant", source="OMIM:608970"} ! patterned macular dystrophy
property_value: exactMatch DOID:0060864
property_value: exactMatch http://identifiers.org/omim/608970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837029

[Term]
id: MONDO:0012163
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." [DOID:0090014, PMID:9068311, PMID:9843216]
comment: Editor note: check relationship to sibs
synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [DOID:0090014]
synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [DOID:0090014]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:608971]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT [OMIM:608971]
xref: DOID:0090014 {source="MONDO:equivalentTo"}
xref: ICD10:D81.2 {source="DOID:0090014"}
xref: MESH:C563822 {source="MONDO:equivalentTo"}
xref: OMIM:608971 {source="DOID:0090014", source="MONDO:equivalentTo"}
xref: UMLS:C1837028 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608971"}
is_a: MONDO:0015974 {source="DC-OMIM:608971", source="DOID:0090014", source="MESH:C563822", source="MONDOLEX:0012163"} ! severe combined immunodeficiency (disease)
property_value: exactMatch DOID:0090014
property_value: exactMatch http://identifiers.org/mesh/C563822
property_value: exactMatch http://identifiers.org/omim/608971
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837028

[Term]
id: MONDO:0012164
name: Meacham syndrome
def: "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." [Orphanet:3097]
subset: ordo_malformation_syndrome {source="Orphanet:3097"}
synonym: "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" RELATED [GARD:0003432]
synonym: "Meacham syndrome" EXACT [OMIM:608978]
synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432]
synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097]
synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097]
xref: GARD:0003432 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:3097", source="ORDO:3097/attributed", source="ORDO:3097/ntbt"}
xref: OMIM:608978 {source="MONDO:equivalentTo", source="Orphanet:3097", source="ORDO:3097/e"}
xref: Orphanet:3097 {source="OMIM:608978", source="MONDO:equivalentTo"}
xref: SCTID:722461004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1837026 {source="MEDGEN:kboom-pr97-c98", source="OMIM:608978", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3097"}
is_a: MONDO:0015846 {source="Orphanet:3097"} ! syndromic uterovaginal malformation
is_a: MONDO:0017978 {source="Orphanet:3097"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:3097"} ! syndrome with 46,XY disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931752
property_value: exactMatch http://identifiers.org/omim/608978
property_value: exactMatch http://identifiers.org/snomedct/722461004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837026
property_value: exactMatch Orphanet:3097

[Term]
id: MONDO:0012165
name: BNAR syndrome
def: "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)." [Orphanet:217266]
subset: ordo_malformation_syndrome {source="Orphanet:217266"}
synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical, OMIM:608980]
synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266]
synonym: "bifid NOSE with or without anorectal and renal anomalies; BNAR" RELATED [OMIM:608980]
synonym: "BNAR" RELATED [MONDO:Lexical, OMIM:608980]
xref: GARD:0010595 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:217266/attributed", source="ORDO:217266/ntbt", source="Orphanet:217266"}
xref: MESH:C567672 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608980 {source="MONDO:equivalentTo", source="ORDO:217266/e", source="Orphanet:217266"}
xref: Orphanet:217266 {source="MONDO:equivalentTo", source="OMIM:608980"}
xref: SCTID:717940006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2750433 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:608980", source="Orphanet:217266"}
xref: UMLS:C4303547 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0000110 {source="DC-OMIM:608980"} ! bifid nose
is_a: MONDO:0015246 {source="Orphanet:217266"} ! syndromic anorectal malformation
is_a: MONDO:0019721 {source="Orphanet:217266"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="Orphanet:217266"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567672
property_value: exactMatch http://identifiers.org/omim/608980
property_value: exactMatch http://identifiers.org/snomedct/717940006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303547
property_value: exactMatch Orphanet:217266

[Term]
id: MONDO:0012166
name: autosomal dominant sensory ataxia 1
def: "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADSA" EXACT [DOID:0111170]
synonym: "Adsa" RELATED [OMIM:608984]
synonym: "ataxia, sensory, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608984]
synonym: "ataxia, sensory, 1, autosomal dominant; SNAX1" RELATED [OMIM:608984]
synonym: "hereditary ataxia caused by mutation in RNF170" EXACT [MONDO:design_pattern]
synonym: "RNF170 hereditary ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SNAX1" EXACT [DOID:0111170, MONDO:Lexical, OMIM:608984]
xref: DOID:0111170 {source="MONDO:equivalentTo"}
xref: OMIM:608984 {source="DOID:0111170", source="MONDO:equivalentTo"}
xref: UMLS:C1837015 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608984"}
is_a: MONDO:0000557 {source="DOID:0111170", source="MONDO:Redundant"} ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch DOID:0111170
property_value: exactMatch http://identifiers.org/omim/608984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837015

[Term]
id: MONDO:0012167
name: ATFB2
synonym: "ATFB2" EXACT [MONDO:Lexical, OMIM:608988]
synonym: "atrial fibrillation, familial, 2" RELATED [MONDO:Lexical, OMIM:608988]
synonym: "atrial fibrillation, familial, 2; ATFB2" RELATED [OMIM:608988]
xref: MESH:C563903 {source="MONDO:equivalentTo"}
xref: OMIM:608988 {source="MONDO:equivalentTo"}
xref: UMLS:C1837812 {source="OMIM:608988", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:608988", source="MONDOLEX:0012167", source="OMIM:608988"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C563903
property_value: exactMatch http://identifiers.org/omim/608988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837812

[Term]
id: MONDO:0012168
name: dyslexia, susceptibility to, 8
subset: predisposition
synonym: "dyslexia, susceptibility to, 8" RELATED [OMIM:608995]
synonym: "dyslexia, susceptibility to, 8; DYX8" RELATED [OMIM:608995]
synonym: "DYX8" EXACT [MONDO:Lexical, OMIM:608995]
xref: OMIM:608995 {source="MONDO:equivalentTo"}
is_a: MONDO:0005489 {source="DC-OMIM:608995"} ! dyslexia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837009
property_value: exactMatch http://identifiers.org/omim/608995

[Term]
id: MONDO:0012169
name: premature ovarian failure 3
synonym: "Pof3" RELATED [MONDO:Lexical, OMIM:608996]
synonym: "premature ovarian failure 3" EXACT [MONDO:Lexical, OMIM:608996]
synonym: "premature ovarian failure 3; Pof3" RELATED [OMIM:608996]
synonym: "premature ovarian failure type 3" EXACT [MONDORULE:1, OMIM:608996]
xref: MESH:C563816 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:608996 {source="MONDO:equivalentTo"}
xref: UMLS:C1837008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608996"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C563816
property_value: exactMatch http://identifiers.org/omim/608996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1837008

[Term]
id: MONDO:0012170
name: autosomal recessive nonsyndromic deafness 36
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 36" EXACT [DOID:0110494]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 36" EXACT [DOID:0110494, MONDORULE:2]
synonym: "deafness, autosomal dominant, without vestibular involvement" RELATED [OMIM:609006]
synonym: "deafness, autosomal recessive 36, with or without vestibular involvement" RELATED [MONDO:Lexical, OMIM:609006]
synonym: "deafness, autosomal recessive 36, with or without vestibular involvement; DFNB36" RELATED [OMIM:609006]
synonym: "DFNB36" EXACT [DOID:0110494, MONDO:Lexical, OMIM:609006]
synonym: "ESPN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110494 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110494"}
xref: MESH:C563815 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609006 {source="MONDO:equivalentTo", source="DOID:0110494"}
is_a: MONDO:0019588 {source="DC-OMIM:609006", source="DOID:0110494", source="MONDO:Redundant", source="OMIM:609006"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149566
property_value: exactMatch DOID:0110494
property_value: exactMatch http://identifiers.org/mesh/C563815
property_value: exactMatch http://identifiers.org/omim/609006

[Term]
id: MONDO:0012171
name: marfanoid habitus with situs inversus
synonym: "marfanoid habitus with situs inversus" EXACT [OMIM:609008]
xref: MESH:C563814 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609008 {source="MONDO:equivalentTo"}
xref: UMLS:C1836994 {source="OMIM:609008", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563814/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563814
property_value: exactMatch http://identifiers.org/omim/609008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836994

[Term]
id: MONDO:0012172
name: mitochondrial trifunctional protein deficiency
def: "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." [Orphanet:746]
subset: gard_rare {source="GARD:0003684"}
subset: ordo_disease {source="Orphanet:746"}
synonym: "mitochondrial trifunctional protein deficiency" EXACT [MONDO:Lexical, OMIM:609015]
synonym: "mitochondrial trifunctional PROTEIN deficiency; MTPD" RELATED [OMIM:609015]
synonym: "MTPD" RELATED [MONDO:Lexical, OMIM:609015]
synonym: "TFP deficiency" EXACT [Orphanet:746]
synonym: "TFPD" EXACT [Orphanet:746]
synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015]
synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015]
xref: GARD:0003684 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="Orphanet:746", source="ORDO:746/attributed", source="ORDO:746/ntbt"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98991 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:609015 {source="ORDO:746/e", source="Orphanet:746", source="MONDO:equivalentTo"}
xref: Orphanet:746 {source="MONDO:equivalentTo", source="OMIM:609015"}
xref: SCTID:237999008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 {source="Orphanet:746"} ! inborn mitochondrial myopathy
is_a: MONDO:0012173 ! long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
is_a: MONDO:0016327 ! mitochondrial disease with hypertrophic cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969443
property_value: exactMatch http://identifiers.org/mesh/D024741
property_value: exactMatch http://identifiers.org/omim/609015
property_value: exactMatch http://identifiers.org/snomedct/237999008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342786
property_value: exactMatch NCIT:C98991
property_value: exactMatch Orphanet:746
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency xsd:anyURI {source="GARD:0003684"}

[Term]
id: MONDO:0012173
name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
def: "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." [Orphanet:5]
subset: ordo_disease {source="Orphanet:5"}
synonym: "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" RELATED [GARD:0006867]
synonym: "LCHAD deficiency" EXACT [OMIM:609016, Orphanet:5]
synonym: "LCHADD" EXACT [Orphanet:5]
synonym: "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency" RELATED [GARD:0006867]
synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:609016]
synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:5]
synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867]
synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867]
xref: GARD:0006867 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E71.3 {source="Orphanet:5", source="ORDO:5/attributed", source="ORDO:5/ntbt"}
xref: NCIT:C129929 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="ORDO:5/e"}
xref: Orphanet:5 {source="MONDO:equivalentTo", source="OMIM:609016"}
xref: SCTID:726021008 {source="MONDO:equivalentTo"}
xref: UMLS:C3711645 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN074230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN239369 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015895 {source="Orphanet:5"} ! syndrome with hypoparathyroidism
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016133 {source="Orphanet:5"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016328 {source="Orphanet:5"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
is_a: MONDO:0017715 {source="Orphanet:5"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency
is_a: MONDO:0020281 {source="Orphanet:5"} ! metabolic disease with pigmentary retinitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969443
property_value: exactMatch http://identifiers.org/omim/609016
property_value: exactMatch http://identifiers.org/snomedct/726021008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239369
property_value: exactMatch NCIT:C129929
property_value: exactMatch Orphanet:5

[Term]
id: MONDO:0012174
name: peripheral cone dystrophy
synonym: "peripheral cone dystrophy" EXACT [OMIM:609021]
xref: MESH:C563813 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609021 {source="MONDO:equivalentTo"}
xref: UMLS:C1836946 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609021"}
is_a: MONDO:0003847 {source="MESH:C563813/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563813
property_value: exactMatch http://identifiers.org/omim/609021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836946

[Term]
id: MONDO:0012175
name: cataract 28
def: "A cataract that has_material_basis_in variation in the region 6p12-q12." [DOID:0110244, PMID:15452352]
synonym: "age-related cortical cataract 1" EXACT [DOID:0110244]
synonym: "ARCC1" EXACT [DOID:0110244]
synonym: "cataract 28" EXACT [MONDO:Lexical, OMIM:609026]
synonym: "cataract 28; CTRCT28" RELATED [OMIM:609026]
synonym: "cataract type 28" EXACT [DOID:0110244, MONDORULE:2]
synonym: "cataract, age-related cortical, 1" RELATED [OMIM:609026]
synonym: "CTRCT28" EXACT [DOID:0110244, MONDO:Lexical, OMIM:609026]
xref: DOID:0110244 {source="MONDO:equivalentTo"}
xref: MESH:C563812 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609026 {source="MONDO:equivalentTo", source="DOID:0110244"}
xref: UMLS:C1836942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609026"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110244", source="MESH:C563812", source="OMIM:609026"} ! cataract (disease)
property_value: exactMatch DOID:0110244
property_value: exactMatch http://identifiers.org/mesh/C563812
property_value: exactMatch http://identifiers.org/omim/609026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836942

[Term]
id: MONDO:0012176
name: Emanuel syndrome
def: "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." [Orphanet:96170]
subset: gard_rare {source="GARD:0009835"}
subset: ordo_malformation_syndrome {source="Orphanet:96170"}
synonym: "Der(22)t(11;22) syndrome" EXACT [Orphanet:96170]
synonym: "Emanuel syndrome" EXACT [OMIM:609029]
synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170]
synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835]
synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029]
xref: GARD:0009835 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.6 {source="ORDO:96170/attributed", source="ORDO:96170/ntbt", source="Orphanet:96170"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535733 {source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170", source="MONDO:ontobio"}
xref: OMIM:609029 {source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170"}
xref: Orphanet:96170 {source="MONDO:equivalentTo", source="OMIM:609029"}
xref: SCTID:702417004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.98"}
xref: UMLS:C1836929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170", source="OMIM:609029"}
is_a: MONDO:0015216 {source="Orphanet:96170"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015880 {source="Orphanet:96170"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0016998 {source="Orphanet:96170"} ! complex chromosomal rearrangement
property_value: exactMatch http://identifiers.org/mesh/C535733
property_value: exactMatch http://identifiers.org/omim/609029
property_value: exactMatch http://identifiers.org/snomedct/702417004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836929
property_value: exactMatch Orphanet:96170
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome xsd:anyURI {source="GARD:0009835"}

[Term]
id: MONDO:0012177
name: posterior column ataxia-retinitis pigmentosa syndrome
def: "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." [Orphanet:88628]
subset: ordo_disease {source="Orphanet:88628"}
synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" EXACT [Orphanet:88628]
synonym: "AXPC1" RELATED [MONDO:Lexical, OMIM:609033]
synonym: "PCARP" EXACT [Orphanet:88628]
synonym: "Pcarp" RELATED [OMIM:609033]
synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033]
synonym: "POSTERIOR column ataxia with retinitis pigmentosa; AXPC1" RELATED [OMIM:609033]
xref: GARD:0009898 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="ORDO:88628/attributed", source="ORDO:88628/ntbt", source="Orphanet:88628"}
xref: MESH:C536343 {source="ORDO:88628/e", source="MONDO:equivalentTo", source="Orphanet:88628"}
xref: OMIM:609033 {source="ORDO:88628/e", source="MONDO:equivalentTo", source="Orphanet:88628"}
xref: Orphanet:88628 {source="MONDO:equivalentTo", source="OMIM:609033"}
xref: SCTID:724065003 {source="MONDO:equivalentTo"}
xref: UMLS:C1836916 {source="MEDGEN:kboom-pr98-c99", source="ORDO:88628/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609033", source="Orphanet:88628"}
xref: UMLS:C4510304 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020046 {source="Orphanet:88628"} ! autosomal recessive degenerative and progressive cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C536343
property_value: exactMatch http://identifiers.org/omim/609033
property_value: exactMatch http://identifiers.org/snomedct/724065003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510304
property_value: exactMatch Orphanet:88628

[Term]
id: MONDO:0012178
name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature
synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" RELATED [OMIM:609037]
xref: MESH:C563810 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609037 {source="MONDO:equivalentTo"}
xref: UMLS:C1836915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609037"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563810
property_value: exactMatch http://identifiers.org/omim/609037
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836915

[Term]
id: MONDO:0012179
name: narcolepsy 3
synonym: "narcolepsy 3" RELATED [OMIM:609039]
synonym: "narcolepsy 3; NRCLP3" RELATED [OMIM:609039]
synonym: "NRCLP3" EXACT [MONDO:Lexical, OMIM:609039]
xref: OMIM:609039 {source="MONDO:equivalentTo"}
xref: UMLS:C1836907 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609039"}
is_a: MONDO:0016158 {source="DC-OMIM:609039"} ! narcolepsy-cataplexy syndrome
property_value: exactMatch http://identifiers.org/omim/609039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836907

[Term]
id: MONDO:0012180
name: arrhythmogenic right ventricular dysplasia 9
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [DOID:0110077, OMIM:609040]
synonym: "arrhythmogenic right ventricular dysplasia type 9" EXACT [DOID:0110077, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 9" RELATED [MONDO:Lexical, OMIM:609040]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 9; ARVD9" RELATED [OMIM:609040]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 9" EXACT [MONDORULE:1, OMIM:609040]
synonym: "ARVC9" EXACT [DOID:0110077]
synonym: "ARVD9" EXACT [DOID:0110077, MONDO:Lexical, OMIM:609040]
synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [DOID:0110077]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2" EXACT [MONDO:design_pattern]
synonym: "PKP2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110077 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110077"}
xref: MESH:C563808 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609040 {source="MONDO:equivalentTo", source="DOID:0110077"}
xref: UMLS:C1836906 {source="NCBI:mim2gene_medline", source="OMIM:609040", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="MONDO:Redundant", source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110077
property_value: exactMatch http://identifiers.org/mesh/C563808
property_value: exactMatch http://identifiers.org/omim/609040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836906

[Term]
id: MONDO:0012181
name: hereditary spastic paraplegia 27
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1." [DOID:0110778, PMID:15455396]
subset: ordo_disease {source="Orphanet:101007"}
synonym: "autosomal recessive spastic paraplegia 27" EXACT [DOID:0110778]
synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778]
synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE:2]
synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041]
synonym: "spastic paraplegia 27, autosomal recessive; SPG27" RELATED [OMIM:609041]
synonym: "SPG27" EXACT [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007]
xref: DOID:0110778 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110778", source="ORDO:101007/attributed", source="ORDO:101007/ntbt", source="Orphanet:101007"}
xref: MESH:C563807 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="ORDO:101007/e"}
xref: Orphanet:101007 {source="DOID:0110778", source="OMIM:609041", source="MONDO:equivalentTo"}
xref: UMLS:C1836899 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609041", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101007"}
is_a: MONDO:0015089 {source="Orphanet:101007"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110778
property_value: exactMatch http://identifiers.org/mesh/C563807
property_value: exactMatch http://identifiers.org/omim/609041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836899
property_value: exactMatch Orphanet:101007

[Term]
id: MONDO:0012182
name: skeletal dysplasia, rhizomelic, with retinitis pigmentosa
synonym: "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" EXACT [OMIM:609047]
xref: MESH:C563806 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609047 {source="MONDO:equivalentTo"}
xref: UMLS:C1836898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609047"}
is_a: MONDO:0003847 {source="MESH:C563806/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563806
property_value: exactMatch http://identifiers.org/omim/609047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836898

[Term]
id: MONDO:0012183
name: melanoma, cutaneous malignant, susceptibility to, 3
subset: predisposition
synonym: "CMM3" RELATED [MONDO:Lexical, OMIM:609048]
synonym: "melanoma, cutaneous malignant, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609048]
synonym: "melanoma, cutaneous malignant, susceptibility to, 3; CMM3" RELATED [OMIM:609048]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609048]
synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048]
xref: OMIM:609048 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:609048"} ! familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836892
property_value: exactMatch http://identifiers.org/omim/609048

[Term]
id: MONDO:0012184
name: Pierson syndrome
def: "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." [Orphanet:2670]
subset: gard_rare {source="GARD:0009420"}
subset: ordo_malformation_syndrome {source="Orphanet:2670"}
synonym: "microcoria - congenital nephrosis" RELATED [GARD:0009420]
synonym: "microcoria - congenital nephrotic syndrome" RELATED [GARD:0009420]
synonym: "microcoria-congenital nephrosis syndrome" EXACT [DOID:0060852, Orphanet:2670]
synonym: "microcoria-congenital nephrotic syndrome" RELATED [OMIM:609049]
synonym: "Pierson syndrome" EXACT [OMIM:609049]
xref: DOID:0060852 {source="MONDO:equivalentTo"}
xref: GARD:0003945 {source="MONDO:relatedTo"}
xref: GARD:0009420 {source="MONDO:equivalentTo"}
xref: ICD10:N04.8 {source="DOID:0060852", source="ORDO:2670/attributed", source="ORDO:2670/ntbt", source="Orphanet:2670"}
xref: MESH:C537185 {source="MONDO:equivalentTo", source="DOID:0060852", source="MONDO:ontobio", source="Orphanet:2670", source="ORDO:2670/e"}
xref: NCIT:C128145 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:609049 {source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670", source="ORDO:2670/e"}
xref: Orphanet:2670 {source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049"}
xref: SCTID:723449004 {source="MONDO:equivalentTo"}
xref: UMLS:C1836876 {source="NCIT:C128145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049", source="Orphanet:2670", source="ORDO:2670/e"}
is_a: MONDO:0006025 {source="DOID:0060852", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0013621 ! LAMB2-related infantile-onset nephrotic syndrome
property_value: exactMatch DOID:0060852
property_value: exactMatch http://identifiers.org/mesh/C537185
property_value: exactMatch http://identifiers.org/omim/609049
property_value: exactMatch http://identifiers.org/snomedct/723449004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836876
property_value: exactMatch NCIT:C128145
property_value: exactMatch Orphanet:2670
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome xsd:anyURI {source="GARD:0009420"}

[Term]
id: MONDO:0012185
name: spondylometaphyseal dysplasia, A4 type
subset: gard_rare {source="GARD:0000458"}
subset: ordo_disease {source="Orphanet:168555"}
synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458]
synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458]
synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052]
xref: GARD:0000458 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:168555", source="ORDO:168555/attributed", source="ORDO:168555/ntbt"}
xref: MESH:C563803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609052 {source="ORDO:168555/e", source="Orphanet:168555", source="MONDO:equivalentTo"}
xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"}
xref: UMLS:C1836862 {source="OMIM:609052", source="NCBI:mim2gene_medline", source="Orphanet:168555", source="MONDO:equivalentTo"}
is_a: MONDO:0016763 {source="DC-OMIM:609052", source="MONDOLEX:0012185", source="Orphanet:168555"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C563803
property_value: exactMatch http://identifiers.org/omim/609052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836862
property_value: exactMatch Orphanet:168555
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 xsd:anyURI {source="GARD:0000458"}

[Term]
id: MONDO:0012186
name: Fanconi anemia complementation group i
def: "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." [NCIT:C129026]
synonym: "FANCI" EXACT [DOID:0111091, MONDO:Lexical, OMIM:609053]
synonym: "Fanconi anemia complementation group type I" EXACT [DOID:0111091, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053]
synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical, OMIM:609053]
synonym: "Fanconi anemia, complementation group I; FANCI" RELATED [OMIM:609053]
synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1, OMIM:609053]
xref: DOID:0111091 {source="MONDO:equivalentTo"}
xref: MESH:C563802 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129026 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:609053 {source="DOID:0111091", source="MONDO:equivalentTo"}
xref: UMLS:C1836861 {source="NCBI:mim2gene_medline", source="NCIT:C129026", source="MONDO:equivalentTo", source="OMIM:609053"}
is_a: MONDO:0019391 {source="DC-OMIM:609053", source="DOID:0111091", source="MESH:C563802", source="NCIT:C129026", source="OMIM:609053"} ! Fanconi anemia
property_value: exactMatch DOID:0111091
property_value: exactMatch http://identifiers.org/mesh/C563802
property_value: exactMatch http://identifiers.org/omim/609053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836861
property_value: exactMatch NCIT:C129026

[Term]
id: MONDO:0012187
name: Fanconi anemia complementation group j
def: "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." [NCIT:C129027]
synonym: "FANCJ" EXACT [DOID:0111097, MONDO:Lexical, OMIM:609054]
synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MONDORULE:1]
synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054]
synonym: "Fanconi anemia, complementation group J; FANCJ" RELATED [OMIM:609054]
synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1, OMIM:609054]
xref: DOID:0111097 {source="MONDO:equivalentTo"}
xref: MESH:C563801 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129027 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:609054 {source="MONDO:equivalentTo", source="DOID:0111097"}
xref: UMLS:C1836860 {source="NCIT:C129027", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609054"}
is_a: MONDO:0019391 {source="DC-OMIM:609054", source="DOID:0111097", source="MESH:C563801", source="NCIT:C129027", source="OMIM:609054"} ! Fanconi anemia
property_value: exactMatch DOID:0111097
property_value: exactMatch http://identifiers.org/mesh/C563801
property_value: exactMatch http://identifiers.org/omim/609054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836860
property_value: exactMatch NCIT:C129027

[Term]
id: MONDO:0012188
name: neuronal ceroid lipofuscinosis 9
def: "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9]
subset: gard_rare {source="GARD:0006618"}
subset: ordo_etiological_subtype {source="Orphanet:228357"}
synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical, OMIM:609055]
synonym: "ceroid lipofuscinosis, neuronal, 9; CLN9" RELATED [OMIM:609055]
synonym: "CLN 9" RELATED [GARD:0006618]
synonym: "CLN9" EXACT [DOID:0110733, MONDO:Lexical, OMIM:609055]
synonym: "CLN9 disease" RELATED [Orphanet:228357]
synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1]
xref: DOID:0110733 {source="MONDO:equivalentTo"}
xref: GARD:0006618 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="DOID:0110733", source="ORDO:228357/attributed", source="ORDO:228357/ntbt", source="Orphanet:228357"}
xref: MESH:C537953 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609055 {source="DOID:0110733", source="MONDO:equivalentTo", source="Orphanet:228357", source="ORDO:228357/e"}
xref: Orphanet:228357 {source="DOID:0110733", source="MONDO:equivalentTo", source="OMIM:609055"}
is_a: MONDO:0019262 {source="Orphanet:228357"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836841
property_value: exactMatch DOID:0110733
property_value: exactMatch http://identifiers.org/mesh/C537953
property_value: exactMatch http://identifiers.org/omim/609055
property_value: exactMatch Orphanet:228357
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 xsd:anyURI {source="GARD:0006618"}

[Term]
id: MONDO:0012189
name: Amish infantile epilepsy syndrome
subset: ordo_disease {source="Orphanet:171714"}
synonym: "Amish infantile epilepsy syndrome" EXACT [OMIM:609056]
synonym: "epilepsy syndrome, infantile-onset symptomatic" RELATED [OMIM:609056]
synonym: "GM3 synthase deficiency" RELATED [OMIM:609056]
synonym: "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" RELATED [GARD:0012059]
synonym: "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" EXACT [Orphanet:171714]
synonym: "salt and pepper developmental regression syndrome" RELATED [OMIM:609056]
synonym: "salt and pepper developmental regression syndrome; SPDRS" RELATED [OMIM:609056]
synonym: "salt and pepper mental retardation syndrome" RELATED [OMIM:609056]
synonym: "SPDRS" RELATED [OMIM:609056]
xref: GARD:0012059 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:171714", source="ORDO:171714/attributed", source="ORDO:171714/ntbt"}
xref: OMIM:609056 {source="Orphanet:171714", source="MONDO:equivalentTo", source="ORDO:171714/ntbt"}
xref: Orphanet:171714 {source="MONDO:equivalentTo", source="OMIM:609056"}
xref: UMLS:C1836824 {source="Orphanet:171714", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609056"}
is_a: MONDO:0018274 {source="Orphanet:171714"} ! GM3 synthase deficiency
property_value: exactMatch http://identifiers.org/omim/609056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836824
property_value: exactMatch Orphanet:171714

[Term]
id: MONDO:0012190
name: nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome
subset: ordo_disease {source="Orphanet:300333"}
synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057]
synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333]
xref: MESH:C563798 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609057 {source="ORDO:300333/e", source="Orphanet:300333", source="MONDO:equivalentTo"}
xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"}
xref: UMLS:C1836823 {source="Orphanet:300333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:609057"}
is_a: MONDO:0019589 {source="Orphanet:300333"} ! syndromic genetic deafness
is_a: MONDO:0019723 {source="Orphanet:300333"} ! disease of glomerular basement membrane
property_value: exactMatch http://identifiers.org/mesh/C563798
property_value: exactMatch http://identifiers.org/omim/609057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836823
property_value: exactMatch Orphanet:300333

[Term]
id: MONDO:0012191
name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
def: "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." [Orphanet:137681]
subset: ordo_disease {source="Orphanet:137681"}
synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060]
synonym: "combined oxidative phosphorylation deficiency 1; COXPD1" RELATED [OMIM:609060]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1, OMIM:609060]
synonym: "COXPD1" RELATED [MONDO:Lexical, OMIM:609060]
synonym: "GFM1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681]
synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060]
xref: ICD10:E88.8 {source="ORDO:137681/attributed", source="ORDO:137681/ntbt", source="Orphanet:137681"}
xref: MESH:C563797 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C125663 {source="MONDO:equivalentTo"}
xref: OMIM:609060 {source="MONDO:equivalentTo", source="ORDO:137681/e", source="Orphanet:137681"}
xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"}
xref: SCTID:764962002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836797 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137681"}
is_a: MONDO:0000732 {source="DC-OMIM:609060", source="MONDO:Redundant", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:137681"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C563797
property_value: exactMatch http://identifiers.org/omim/609060
property_value: exactMatch http://identifiers.org/snomedct/764962002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836797
property_value: exactMatch NCIT:C125663
property_value: exactMatch Orphanet:137681

[Term]
id: MONDO:0012192
name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
def: "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." [Orphanet:65288]
subset: ordo_malformation_syndrome {source="Orphanet:65288"}
synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [OMIM:609069]
synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069]
synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288]
synonym: "pancreatic and cerebellar agenesis; paca" RELATED [OMIM:609069]
xref: MESH:C563796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609069 {source="MONDO:equivalentTo", source="ORDO:65288/e", source="Orphanet:65288"}
xref: Orphanet:65288 {source="MONDO:equivalentTo", source="OMIM:609069"}
xref: UMLS:C1836780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609069", source="MEDGEN:kboom-pr92-c96", source="Orphanet:65288"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016391 {source="Orphanet:65288"} ! neonatal diabetes mellitus
is_a: MONDO:0017118 {source="Orphanet:65288"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:65288", source="Orphanet:65288/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563796
property_value: exactMatch http://identifiers.org/omim/609069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836780
property_value: exactMatch Orphanet:65288

[Term]
id: MONDO:0012193
name: autosomal dominant limb-girdle muscular dystrophy type 1G
def: "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." [Orphanet:55596]
subset: ordo_disease {source="Orphanet:55596"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern]
synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1G" EXACT [DOID:0110306, MONDO:Lexical, OMIM:609115, Orphanet:55596]
synonym: "limb-girdle muscular dystrophy type 1G" RELATED [GARD:0012531]
synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM:609115]
synonym: "limb-girdle muscular dystrophy, type 1G; LGMD1G" RELATED [OMIM:609115]
synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306]
xref: DOID:0110306 {source="MONDO:equivalentTo"}
xref: GARD:0012531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:55596/attributed", source="ORDO:55596/ntbt", source="DOID:0110306", source="Orphanet:55596"}
xref: MESH:C563794 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609115 {source="DOID:0110306", source="MONDO:equivalentTo", source="ORDO:55596/e", source="Orphanet:55596"}
xref: Orphanet:55596 {source="DOID:0110306", source="MONDO:equivalentTo", source="OMIM:609115"}
xref: SCTID:719990003 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0015151 {source="DOID:0110306", source="MONDO:Redundant", source="MONDOLEX:0012193", source="OMIM:609115", source="Orphanet:55596"} ! autosomal dominant limb-girdle muscular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836765
property_value: exactMatch DOID:0110306
property_value: exactMatch http://identifiers.org/mesh/C563794
property_value: exactMatch http://identifiers.org/omim/609115
property_value: exactMatch http://identifiers.org/snomedct/719990003
property_value: exactMatch Orphanet:55596

[Term]
id: MONDO:0012194
name: ANIB3
synonym: "aneurysm, intracranial BERRY, 3" RELATED [MONDO:Lexical, OMIM:609122]
synonym: "aneurysm, intracranial BERRY, 3; ANIB3" RELATED [OMIM:609122]
synonym: "ANIB3" EXACT [MONDO:Lexical, OMIM:609122]
xref: MESH:C563792 {source="MONDO:equivalentTo"}
xref: OMIM:609122 {source="MONDO:equivalentTo"}
xref: UMLS:C1836757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609122"}
is_a: MONDO:0016483 {source="DC-OMIM:609122", source="OMIM:609122"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C563792
property_value: exactMatch http://identifiers.org/omim/609122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836757

[Term]
id: MONDO:0012195
name: arthrogryposis-severe scoliosis syndrome
def: "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." [Orphanet:65720]
subset: ordo_malformation_syndrome {source="Orphanet:65720"}
synonym: "arthrogryposis with Severe scoliosis" RELATED [OMIM:609128]
synonym: "arthrogryposis, distal, type 2D" RELATED [OMIM:609128]
synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical, OMIM:609128]
synonym: "arthrogryposis, distal, type 4; DA4" RELATED [OMIM:609128]
synonym: "DA4" RELATED [MONDO:Lexical, OMIM:609128]
synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720]
synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720]
xref: ICD10:Q68.8 {source="Orphanet:65720", source="ORDO:65720/attributed", source="ORDO:65720/ntbt"}
xref: MESH:C563791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="ORDO:65720/e"}
xref: Orphanet:65720 {source="MONDO:equivalentTo", source="OMIM:609128"}
xref: SCTID:715575001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1836756 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:65720", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609128"}
is_a: MONDO:0019942 {source="DC-OMIM:609128", source="Orphanet:65720"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C563791
property_value: exactMatch http://identifiers.org/omim/609128
property_value: exactMatch http://identifiers.org/snomedct/715575001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836756
property_value: exactMatch Orphanet:65720

[Term]
id: MONDO:0012196
name: autosomal dominant auditory neuropathy 1
def: "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "auditory neuropathy caused by mutation in DIAPH3" EXACT [MONDO:design_pattern]
synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical, OMIM:609129]
synonym: "auditory neuropathy, autosomal dominant, 1; AUNA1" RELATED [OMIM:609129]
synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:609129]
synonym: "auditory neuropathy, nonsyndromic dominant" RELATED [OMIM:609129]
synonym: "AUNA1" EXACT [DOID:0060690, MONDO:Lexical, OMIM:609129]
synonym: "autosomal dominant auditory neuropathy type 1" EXACT [DOID:0060690, MONDORULE:1]
synonym: "DIAPH3 auditory neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonsyndromic dominant auditory neuropathy" EXACT [DOID:0060690]
synonym: "NSDAN" EXACT [DOID:0060690]
xref: DOID:0060690 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0060690"}
xref: MESH:C563790 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609129 {source="MONDO:equivalentTo", source="DOID:0060690"}
xref: UMLS:C1836743 {source="OMIM:609129", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DOID:0060690"} ! autosomal dominant nonsyndromic deafness
is_a: MONDO:0021944 {source="MONDO:Redundant", source="OMIM:609129"} ! auditory neuropathy
property_value: exactMatch DOID:0060690
property_value: exactMatch http://identifiers.org/mesh/C563790
property_value: exactMatch http://identifiers.org/omim/609129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836743

[Term]
id: MONDO:0012197
name: idiopathic aplastic anemia
def: "Aplastic anemia without a known cause." [NCIT:C61230]
subset: ordo_disease {source="Orphanet:88"}
synonym: "anemia aplastic" RELATED [GARD:0005836]
synonym: "aplastic anemia" RELATED [OMIM:609135]
synonym: "aplastic anemia idiopathic" RELATED [GARD:0005836]
synonym: "aplastic Anemia, susceptibility to" RELATED [OMIM:609135]
synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230]
synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88]
synonym: "secondary aplastic anemia" RELATED [GARD:0005836]
xref: GARD:0005836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D61.0 {source="ORDO:88/e", source="MONDO:relatedTo", source="Orphanet:88"}
xref: ICD10:D61.3 {source="MONDO:equivalentTo"}
xref: MESH:C538494 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo"}
xref: NCIT:C61230 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/1.87"}
xref: OMIM:609135 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo"}
xref: Orphanet:88 {source="MONDO:equivalentTo", source="OMIM:609135"}
xref: SCTID:191256002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.83"}
xref: UMLS:C0348890 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo", source="NCIT:C61230"}
is_a: MONDO:0015610 {source="Orphanet:88"} ! acquired aplastic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002874
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2684859
property_value: exactMatch http://identifiers.org/mesh/C538494
property_value: exactMatch http://identifiers.org/omim/609135
property_value: exactMatch http://identifiers.org/snomedct/191256002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348890
property_value: exactMatch NCIT:C61230
property_value: exactMatch Orphanet:88

[Term]
id: MONDO:0012198
name: PCWH syndrome
def: "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." [Orphanet:163746]
subset: ordo_disease {source="Orphanet:163746"}
synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111]
synonym: "PCWH" EXACT [DOID:0090111, MONDO:Lexical, OMIM:609136, Orphanet:163746]
synonym: "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" EXACT [DOID:0090111, MONDO:Lexical, OMIM:609136]
synonym: "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; PCWH" RELATED [OMIM:609136]
synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [DOID:0090111, Orphanet:163746]
synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" RELATED [Orphanet:163746]
synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136]
synonym: "WS4 plus" EXACT [Orphanet:163746]
xref: DOID:0090111 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="DOID:0090111", source="Orphanet:163746", source="ORDO:163746/attributed", source="ORDO:163746/ntbt"}
xref: MESH:C563789 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609136 {source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746", source="ORDO:163746/e"}
xref: Orphanet:163746 {source="DOID:0090111", source="MONDO:equivalentTo", source="OMIM:609136"}
xref: UMLS:C1836727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:163746", source="OMIM:609136"}
xref: UMLS:CN239463 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0000426 {source="DOID:0090111", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0019046 {source="Orphanet:163746"} ! leukodystrophy
is_a: MONDO:0019290 {source="Orphanet:163746"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0019589 {source="Orphanet:163746"} ! syndromic genetic deafness
is_a: MONDO:0020127 {source="Orphanet:163746"} ! genetic peripheral neuropathy
is_a: MONDO:0020276 {source="Orphanet:163746"} ! pigmentation disorder with eye involvement, excluding albinism
is_a: MONDO:0021189 {source="Orphanet:163746"} ! intestinal motility disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0090111
property_value: exactMatch http://identifiers.org/mesh/C563789
property_value: exactMatch http://identifiers.org/omim/609136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239463
property_value: exactMatch Orphanet:163746

[Term]
id: MONDO:0012199
name: posterior polymorphous corneal dystrophy 2
def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL8A2 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical, OMIM:609140]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 2; PPCD2" RELATED [OMIM:609140]
synonym: "corneal dystrophy, posterior polymorphous, type 2" EXACT [MONDORULE:1, OMIM:609140]
synonym: "posterior polymorphous corneal dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern]
synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [DOID:0110856, MONDORULE:1]
synonym: "PPCD2" RELATED [MONDO:Lexical, OMIM:609140]
synonym: "Ppcd2" EXACT [DOID:0110856]
xref: DOID:0110856 {source="MONDO:equivalentTo"}
xref: ICD10:H18.50 {source="DOID:0110856"}
xref: MESH:C565176 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609140 {source="DOID:0110856", source="MONDO:equivalentTo"}
xref: UMLS:C1852795 {source="OMIM:609140", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020364 {source="DC-OMIM:609140", source="DOID:0110856", source="MONDO:Redundant", source="MONDOLEX:0012199", source="OMIM:609140"} ! posterior polymorphous corneal dystrophy
property_value: exactMatch DOID:0110856
property_value: exactMatch http://identifiers.org/mesh/C565176
property_value: exactMatch http://identifiers.org/omim/609140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852795

[Term]
id: MONDO:0012200
name: posterior polymorphous corneal dystrophy 3
def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical, OMIM:609141]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 3; PPCD3" RELATED [OMIM:609141]
synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1, OMIM:609141]
synonym: "posterior polymorphous corneal dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern]
synonym: "posterior polymorphous corneal dystrophy type 3" EXACT [DOID:0110857, MONDORULE:1]
synonym: "PPCD3" RELATED [MONDO:Lexical, OMIM:609141]
synonym: "Ppcd3" EXACT [DOID:0110857]
synonym: "ZEB1 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110857 {source="MONDO:equivalentTo"}
xref: ICD10:H18.50 {source="DOID:0110857"}
xref: MESH:C563788 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609141 {source="DOID:0110857", source="MONDO:equivalentTo"}
xref: UMLS:C1836724 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609141"}
is_a: MONDO:0020364 {source="DC-OMIM:609141", source="DOID:0110857", source="MONDO:Redundant", source="MONDOLEX:0012200", source="OMIM:609141"} ! posterior polymorphous corneal dystrophy
property_value: exactMatch DOID:0110857
property_value: exactMatch http://identifiers.org/mesh/C563788
property_value: exactMatch http://identifiers.org/omim/609141
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836724

[Term]
id: MONDO:0012201
name: tibia, bowing of, with pseudarthrosis and pectus excavatum
synonym: "moved to 607278" RELATED [OMIM:609143]
synonym: "tibia, bowing of, with pseudarthrosis and pectus excavatum" EXACT [OMIM:609143]
xref: MESH:C563787 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609143 {source="MONDO:equivalentTo"}
xref: UMLS:C1836723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609143"}
is_a: MONDO:0015525 {source="ORDO:157808/btnt"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch http://identifiers.org/mesh/C563787
property_value: exactMatch http://identifiers.org/omim/609143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836723

[Term]
id: MONDO:0012202
name: malaria, mild, susceptibility to
subset: predisposition
synonym: "malaria, mild, susceptibility to" EXACT [OMIM:609148]
synonym: "Mals" RELATED [OMIM:609148]
synonym: "susceptibility to mild malaria" RELATED [OMIM:609148]
xref: OMIM:609148 {source="MONDO:equivalentTo"}
is_a: MONDO:0021024 ! malaria, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836721
property_value: exactMatch http://identifiers.org/omim/609148

[Term]
id: MONDO:0012203
name: familial hyperthyroidism due to mutations in TSH receptor
def: "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." [Orphanet:424]
subset: ordo_disease {source="Orphanet:424"}
synonym: "familial non-immune hyperthyroidism" EXACT [Orphanet:424]
synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [OMIM:609152]
synonym: "hyperthyroidism, NONAUTOIMMUNE" RELATED [OMIM:609152]
synonym: "hyperthyroidism, Nonautoimmune, autosomal dominant" RELATED [OMIM:609152]
synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858]
synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424]
synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152]
xref: GARD:0002858 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E05.8 {source="Orphanet:424", source="ORDO:424/attributed", source="ORDO:424/ntbt"}
xref: MESH:C563786 {source="MONDO:equivalentTo"}
xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="ORDO:424/e"}
xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"}
xref: UMLS:C1836706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609152"}
is_a: MONDO:0004425 {source="Orphanet:424"} ! hyperthyroidism
is_a: MONDO:0015512 {source="Orphanet:424"} ! genetic hypertension
property_value: exactMatch http://identifiers.org/mesh/C563786
property_value: exactMatch http://identifiers.org/omim/609152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836706
property_value: exactMatch Orphanet:424

[Term]
id: MONDO:0012204
name: familial pseudohyperkalemia
def: "potassium levels in samples stored below 37B0C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." [Orphanet:90044]
subset: ordo_disease {source="Orphanet:90044"}
synonym: "cryohydrocytosis, mild" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Chiswick" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia East London" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia, familial, 2, due to RED cell leak" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia, familial, 2, due to RED cell leak; PSHK2" RELATED [OMIM:609153]
synonym: "Pshk2" RELATED [OMIM:609153]
xref: ICD10:D58.8 {source="Orphanet:90044", source="ORDO:90044/attributed", source="ORDO:90044/ntbt"}
xref: MESH:C563785 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609153 {source="ORDO:90044/e", source="Orphanet:90044", source="MONDO:equivalentTo"}
xref: Orphanet:90044 {source="MONDO:equivalentTo", source="OMIM:609153"}
xref: SCTID:717254007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1836705 {source="Orphanet:90044", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609153"}
xref: UMLS:C4273970 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020102 {source="Orphanet:90044", source="linkedlifedata"} ! hereditary stomatocytosis
property_value: exactMatch http://identifiers.org/mesh/C563785
property_value: exactMatch http://identifiers.org/omim/609153
property_value: exactMatch http://identifiers.org/snomedct/717254007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273970
property_value: exactMatch Orphanet:90044

[Term]
id: MONDO:0012205
name: autosomal dominant striatal neurodegeneration type 1
def: "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." [OMIM:609161]
subset: ordo_disease {source="Orphanet:228169"}
synonym: "ADSD" RELATED [MONDO:Lexical, OMIM:609161, Orphanet:228169]
synonym: "ADSD1" EXACT [OMIM:609161]
synonym: "autosomal dominant striatal neurodegeneration" RELATED [Orphanet:228169]
synonym: "PDE8B striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609161]
synonym: "striatal Degeneration, autosomal dominant 1" EXACT [OMIM:609161]
synonym: "striatal degeneration, autosomal dominant 1; ADSD1" EXACT [OMIM:609161]
synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern]
synonym: "striatal degeneration, autosomal dominant; ADSD" RELATED [OMIM:609161]
xref: OMIM:609161 {source="MONDO:equivalentTo", source="ORDO:228169/e", source="Orphanet:228169"}
xref: SCTID:725392005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000211 {source="DC-OMIM:609161", source="MONDO:Redundant", source="OMIM:609161"} ! striatal degeneration, autosomal dominant
is_a: MONDO:0017661 {source="Orphanet:228169"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0017662 ! miscellaneous movement disorder due to genetic neurodegenerative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310808
property_value: exactMatch http://identifiers.org/omim/609161
property_value: exactMatch http://identifiers.org/snomedct/725392005

[Term]
id: MONDO:0012206
name: Czech dysplasia, metatarsal type
def: "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." [Orphanet:137678]
subset: gard_rare {source="GARD:0010220"}
subset: ordo_disease {source="Orphanet:137678"}
synonym: "Czech dysplasia" RELATED [OMIM:609162]
synonym: "Czech dysplasia metatarsal type" RELATED [GARD:0010220]
synonym: "Czech dysplasia, metatarsal type" EXACT [OMIM:609162]
synonym: "pseudorheumatoid dysplasia progressive, with hypoplastic toes" RELATED [GARD:0010220]
synonym: "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" RELATED [OMIM:609162]
synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" RELATED [OMIM:609162]
xref: GARD:0010220 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:137678", source="ORDO:137678/attributed", source="ORDO:137678/ntbt"}
xref: MESH:C535766 {source="ORDO:137678/e", source="Orphanet:137678", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609162 {source="ORDO:137678/e", source="Orphanet:137678", source="MONDO:equivalentTo"}
xref: Orphanet:137678 {source="OMIM:609162", source="MONDO:equivalentTo"}
xref: SCTID:720826006 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:137678"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:137678"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch http://identifiers.org/mesh/C535766
property_value: exactMatch http://identifiers.org/omim/609162
property_value: exactMatch http://identifiers.org/snomedct/720826006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836683
property_value: exactMatch Orphanet:137678
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type xsd:anyURI {source="GARD:0010220"}

[Term]
id: MONDO:0012207
name: umbilicus, familial flat
subset: gard_rare {source="GARD:0009490"}
synonym: "flat umbilicus autosomal dominant" RELATED [GARD:0009490]
synonym: "flat umbilicus familial" RELATED [GARD:0009490]
synonym: "flat umbilicus, autosomal dominant" RELATED [OMIM:609164]
synonym: "umbilicus, familial flat" EXACT [OMIM:609164]
xref: GARD:0009490 {source="MONDO:equivalentTo"}
xref: MESH:C537059 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609164 {source="MONDO:equivalentTo"}
xref: UMLS:C1836682 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609164"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537059
property_value: exactMatch http://identifiers.org/omim/609164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836682
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial xsd:anyURI {source="GARD:0009490"}

[Term]
id: MONDO:0012208
name: congenital reticular ichthyosiform erythroderma
subset: ordo_disease {source="Orphanet:281190"}
synonym: "Aarau disease" RELATED [OMIM:609165]
synonym: "CRIE" EXACT [Orphanet:281190]
synonym: "CRIE" RELATED [MONDO:Lexical, OMIM:609165]
synonym: "erythroderma, ichthyosiform, congenital reticular" RELATED [MONDO:Lexical, OMIM:609165]
synonym: "erythroderma, ichthyosiform, congenital reticular; CRIE" RELATED [OMIM:609165]
synonym: "erythrokeratoderma, reticular" RELATED [OMIM:609165]
synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190]
synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190]
synonym: "IWC" EXACT [Orphanet:281190]
xref: MESH:C563781 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609165 {source="MONDO:equivalentTo", source="Orphanet:281190", source="ORDO:281190/e"}
xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"}
xref: SCTID:703504006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3665704 {source="MONDO:equivalentTo", source="OMIM:609165"}
is_a: MONDO:0017262 {source="Orphanet:281190", source="Orphanet:281190/inferred"} ! inherited non-syndromic ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836681
property_value: exactMatch http://identifiers.org/mesh/C563781
property_value: exactMatch http://identifiers.org/omim/609165
property_value: exactMatch http://identifiers.org/snomedct/703504006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665704
property_value: exactMatch Orphanet:281190

[Term]
id: MONDO:0012209
name: branchiogenic deafness syndrome
def: "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." [Orphanet:50815]
subset: ordo_malformation_syndrome {source="Orphanet:50815"}
synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166]
synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815]
synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815]
xref: ICD10:Q87.0 {source="ORDO:50815/attributed", source="ORDO:50815/ntbt", source="Orphanet:50815"}
xref: MESH:C563780 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609166 {source="MONDO:equivalentTo", source="ORDO:50815/e", source="Orphanet:50815"}
xref: Orphanet:50815 {source="MONDO:equivalentTo", source="OMIM:609166"}
xref: SCTID:717944002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1836673 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609166", source="Orphanet:50815"}
is_a: MONDO:0019589 {source="Orphanet:50815"} ! syndromic genetic deafness
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:50815"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C563780
property_value: exactMatch http://identifiers.org/omim/609166
property_value: exactMatch http://identifiers.org/snomedct/717944002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836673
property_value: exactMatch Orphanet:50815

[Term]
id: MONDO:0012210
name: migraine with aura, susceptibility to, 7
subset: predisposition
synonym: "Mgr7" RELATED [OMIM:609179]
synonym: "migraine with aura, susceptibility to, 7" EXACT [OMIM:609179]
synonym: "migraine with aura, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:609179]
xref: OMIM:609179 {source="MONDO:equivalentTo"}
xref: UMLS:C1836670 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609179"}
is_a: MONDO:0005475 {source="MONDOLEX:0012210"} ! migraine with aura
property_value: exactMatch http://identifiers.org/omim/609179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836670

[Term]
id: MONDO:0012211
name: MPDU1-CDG
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." [Orphanet:79323]
subset: ordo_disease {source="Orphanet:79323"}
synonym: "carbohydrate deficient glycoprotein syndrome type If" EXACT [Orphanet:79323]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1F" RELATED [GARD:0009832]
synonym: "CDG 1F" RELATED [GARD:0009832]
synonym: "CDG If" RELATED [OMIM:609180]
synonym: "CDG syndrome type If" EXACT [Orphanet:79323]
synonym: "CDG-If" EXACT [Orphanet:79323]
synonym: "CDG1F" EXACT [MONDO:Lexical, OMIM:609180, Orphanet:79323]
synonym: "CDGIf" EXACT [NCIT:C126872]
synonym: "congenital disorder of glycosylation type 1f" EXACT [Orphanet:79323]
synonym: "congenital disorder of glycosylation type If" EXACT [Orphanet:79323]
synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, OMIM:609180]
synonym: "congenital disorder of glycosylation, type If; CDG1F" RELATED [OMIM:609180]
synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832]
xref: GARD:0009832 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:79323/attributed", source="ORDO:79323/ntbt", source="Orphanet:79323"}
xref: MESH:C535744 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126872 {source="MONDO:kboom-pr-1.00/0.91/29.28", source="MONDO:equivalentTo"}
xref: OMIM:609180 {source="MONDO:equivalentTo", source="ORDO:79323/e", source="Orphanet:79323"}
xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"}
xref: SCTID:724096007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836669 {source="OMIM:609180", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126872", source="Orphanet:79323"}
is_a: MONDO:0005500 {source="DC-OMIM:609180", source="MONDOLEX:0012211"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation
is_a: MONDO:0018286 {source="Orphanet:79323"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:79323"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018293 {source="Orphanet:79323"} ! congenital disorder of glycosylation with skin involvement
property_value: exactMatch http://identifiers.org/mesh/C535744
property_value: exactMatch http://identifiers.org/omim/609180
property_value: exactMatch http://identifiers.org/snomedct/724096007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836669
property_value: exactMatch NCIT:C126872
property_value: exactMatch Orphanet:79323

[Term]
id: MONDO:0012212
name: Loeys-Dietz syndrome 1
def: "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." [NCIT:C75119]
synonym: "aortic aneurysm, familial thoracic 5" RELATED [OMIM:609192]
synonym: "Furlong syndrome" RELATED [OMIM:609192]
synonym: "LDS1" RELATED [MONDO:Lexical, OMIM:609192]
synonym: "Loeys-Dietz aortic aneurysm syndrome" RELATED [OMIM:609192]
synonym: "Loeys-Dietz syndrome 1" EXACT [MONDO:Lexical, OMIM:609192]
synonym: "Loeys-Dietz syndrome 1; LDS1" RELATED [OMIM:609192]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR1" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, OMIM:609192]
synonym: "TGFBR1 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070235 {source="MONDO:equivalentTo"}
xref: GARD:0009458 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C75119 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:609192 {source="MONDO:equivalentTo"}
xref: Orphanet:97295 {source="OMIM:609192", source="MONDO:obsoleteEquivalent"}
xref: UMLS:C2697933 {source="NCIT:C75119", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018954 {source="DC-OMIM:609192", source="MONDO:Redundant", source="MONDOLEX:0012212", source="NCIT:C75119", source="OMIM:609192"} ! Loeys-Dietz syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836635
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931764
property_value: exactMatch DOID:0070235
property_value: exactMatch http://identifiers.org/omim/609192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2697933
property_value: exactMatch NCIT:C75119
property_value: exactMatch Orphanet:97295

[Term]
id: MONDO:0012213
name: hereditary spastic paraplegia 26
def: "gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." [Orphanet:101006]
subset: ordo_disease {source="Orphanet:101006"}
synonym: "autosomal recessive spastic paraplegia 26" EXACT [DOID:0110777]
synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777]
synonym: "GM2 synthase deficiency" EXACT [DOID:0110777, Orphanet:101006]
synonym: "hereditary spastic paraplegia type 26" EXACT [DOID:0110777, MONDORULE:2]
synonym: "spastic paraplegia 26" RELATED [GARD:0009587]
synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609195]
synonym: "spastic paraplegia 26, autosomal recessive; SPG26" RELATED [OMIM:609195]
synonym: "SPG26" EXACT [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006]
xref: DOID:0110777 {source="MONDO:equivalentTo"}
xref: GARD:0009587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110777", source="ORDO:101006/attributed", source="ORDO:101006/ntbt", source="Orphanet:101006"}
xref: MESH:C536862 {source="ORDO:101006/e", source="MONDO:equivalentTo", source="Orphanet:101006", source="MONDO:ontobio"}
xref: OMIM:609195 {source="DOID:0110777", source="ORDO:101006/e", source="MONDO:equivalentTo", source="Orphanet:101006"}
xref: Orphanet:101006 {source="DOID:0110777", source="OMIM:609195", source="MONDO:equivalentTo"}
xref: SCTID:726607007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836632 {source="OMIM:609195", source="ORDO:101006/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101006", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4511959 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015089 {source="Orphanet:101006"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110777
property_value: exactMatch http://identifiers.org/mesh/C536862
property_value: exactMatch http://identifiers.org/omim/609195
property_value: exactMatch http://identifiers.org/snomedct/726607007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511959
property_value: exactMatch Orphanet:101006

[Term]
id: MONDO:0012214
name: GCCD3
synonym: "familial glucocorticoid deficiency 3" RELATED [OMIM:609197]
synonym: "GCCD3" EXACT [MONDO:Lexical, OMIM:609197]
synonym: "glucocorticoid deficiency 2" RELATED [OMIM:609197]
synonym: "glucocorticoid deficiency 2, formerly" RELATED [OMIM:609197]
synonym: "glucocorticoid deficiency 3" RELATED [MONDO:Lexical, OMIM:609197]
synonym: "glucocorticoid deficiency 3; GCCD3" RELATED [OMIM:609197]
xref: OMIM:609197 {source="MONDO:equivalentTo"}
xref: UMLS:C1836621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609197"}
is_a: MONDO:0008733 {source="OMIM:609197", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency
property_value: exactMatch http://identifiers.org/omim/609197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836621

[Term]
id: MONDO:0012215
name: myofibrillar myopathy 3
def: "Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." [Orphanet:98911]
subset: ordo_disease {source="Orphanet:98911"}
synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern]
synonym: "distal myotilinopathy" RELATED [Orphanet:98911]
synonym: "MFM3" RELATED [MONDO:Lexical, OMIM:609200]
synonym: "myofibrillar myopathy type 3" EXACT [DOID:0080094, MONDORULE:1]
synonym: "myopathy, myofibrillar, 3" RELATED [MONDO:Lexical, OMIM:609200]
synonym: "myopathy, myofibrillar, 3; MFM3" RELATED [OMIM:609200]
synonym: "myopathy, myofibrillar, myotilin-related" RELATED [OMIM:609200]
synonym: "myopathy, myofibrillar, type 3" EXACT [MONDORULE:1, OMIM:609200]
synonym: "MYOT autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myotilinopathy" EXACT [DOID:0080094, OMIM:609200]
xref: DOID:0080094 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="Orphanet:98911", source="ORDO:98911/attributed", source="ORDO:98911/ntbt"}
xref: MESH:C563775 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609200 {source="ORDO:98911/e", source="MONDO:equivalentTo", source="Orphanet:98911", source="DOID:0080094"}
xref: Orphanet:98911 {source="MONDO:equivalentTo", source="OMIM:609200"}
xref: SCTID:765196004 {source="MONDO:equivalentTo"}
xref: UMLS:C1836607 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:609200"}
is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:98911"} ! autosomal dominant distal myopathy
is_a: MONDO:0016201 {source="Orphanet:98911"} ! qualitative or quantitative defects of myotilin
is_a: MONDO:0018943 {source="OMIM:609200", source="Orphanet:98911"} ! myofibrillar myopathy (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714934
property_value: exactMatch DOID:0080094
property_value: exactMatch http://identifiers.org/mesh/C563775
property_value: exactMatch http://identifiers.org/omim/609200
property_value: exactMatch http://identifiers.org/snomedct/765196004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836607
property_value: exactMatch Orphanet:98911

[Term]
id: MONDO:0012216
name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
subset: ordo_disease {source="Orphanet:397618"}
synonym: "FHONDA syndrome" EXACT [Orphanet:397618]
synonym: "foveal hypoplasia 2" RELATED [MONDO:Lexical, OMIM:609218]
synonym: "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism" RELATED [OMIM:609218]
synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" RELATED [OMIM:609218]
synonym: "foveal hypoplasia 2; FVH2" RELATED [OMIM:609218]
synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218]
synonym: "FVH2" RELATED [MONDO:Lexical, OMIM:609218]
xref: ICD10:Q15.8 {source="ORDO:397618/attributed", source="ORDO:397618/ntbt", source="Orphanet:397618"}
xref: MESH:C563774 {source="MONDO:equivalentTo"}
xref: OMIM:609218 {source="MONDO:equivalentTo", source="ORDO:397618/e", source="Orphanet:397618"}
xref: Orphanet:397618 {source="OMIM:609218", source="MONDO:equivalentTo"}
is_a: MONDO:0020238 {source="Orphanet:397618"} ! inherited vitreous-retinal disease
is_a: MONDO:0020249 {source="Orphanet:397618"} ! hereditary optic neuropathy
is_a: MONDO:0044203 {source="OMIM:609218"} ! foveal hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836603
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807873
property_value: exactMatch http://identifiers.org/mesh/C563774
property_value: exactMatch http://identifiers.org/omim/609218
property_value: exactMatch Orphanet:397618

[Term]
id: MONDO:0012217
name: Bruck syndrome 2
def: "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRKS2" RELATED [MONDO:Lexical, OMIM:609220]
synonym: "Bruck syndrome 2" EXACT [MONDO:Lexical, OMIM:609220]
synonym: "Bruck syndrome 2; BRKS2" RELATED [OMIM:609220]
synonym: "Bruck syndrome caused by mutation in PLOD2" EXACT [MONDO:design_pattern]
synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1, OMIM:609220]
synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [OMIM:609220]
synonym: "PLOD2 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010023 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:609220 {source="MONDO:equivalentTo"}
xref: UMLS:C1836602 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609220"}
is_a: MONDO:0017195 {source="DC-OMIM:609220", source="MONDO:Redundant", source="MONDOLEX:0012217"} ! Bruck syndrome
property_value: exactMatch http://identifiers.org/omim/609220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836602

[Term]
id: MONDO:0012218
name: ADDWOC
synonym: "ADDWOC" EXACT [MONDO:Lexical, OMIM:609222]
synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609222]
synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal dominant; ADDWOC" RELATED [OMIM:609222]
xref: MESH:C567185 {source="MONDO:equivalentTo"}
xref: OMIM:609222 {source="MONDO:equivalentTo"}
xref: UMLS:C2674987 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609222"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567185
property_value: exactMatch http://identifiers.org/omim/609222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674987

[Term]
id: MONDO:0012219
name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type" EXACT [OMIM:609223]
xref: MESH:C563772 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609223 {source="MONDO:equivalentTo"}
xref: UMLS:C1836584 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609223"}
is_a: MONDO:0007738 {source="DC-OMIM:609223"} ! spondyloepiphyseal dysplasia with congenital joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C563772
property_value: exactMatch http://identifiers.org/omim/609223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836584

[Term]
id: MONDO:0012220
name: Griscelli syndrome type 3
def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes." [DOID:0060834, PMID:12148598, PMID:12897212]
subset: gard_rare {source="GARD:0009715"}
subset: ordo_clinical_subtype {source="Orphanet:79478"}
synonym: "Griscelli disease type 3" RELATED [Orphanet:79478]
synonym: "Griscelli syndrome, type 3" RELATED [MONDO:Lexical, OMIM:609227]
synonym: "Griscelli syndrome, type 3; GS3" RELATED [OMIM:609227]
synonym: "Griscelli-PruniC)ras syndrome type 3" EXACT [Orphanet:79478]
synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [DOID:0060834]
synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [DOID:0060834]
synonym: "GS3" EXACT [DOID:0060834, MONDO:Lexical, OMIM:609227]
synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715]
xref: DOID:0060834 {source="MONDO:equivalentTo"}
xref: GARD:0009715 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="DOID:0060834", source="ORDO:79478/attributed", source="ORDO:79478/ntbt", source="Orphanet:79478"}
xref: MESH:C537303 {source="MONDO:equivalentTo", source="DOID:0060834", source="MONDO:ontobio", source="ORDO:79478/e", source="Orphanet:79478"}
xref: OMIM:609227 {source="MONDO:equivalentTo", source="DOID:0060834", source="ORDO:79478/e", source="Orphanet:79478"}
xref: Orphanet:79478 {source="MONDO:equivalentTo", source="DOID:0060834", source="OMIM:609227"}
xref: UMLS:C1836573 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060834", source="MEDGEN:kboom-pr92-c96", source="ORDO:79478/e", source="OMIM:609227", source="Orphanet:79478"}
is_a: MONDO:0018306 {source="DC-OMIM:609227", source="DOID:0060834", source="MONDO:Redundant", source="OMIM:609227", source="Orphanet:79478"} ! Griscelli syndrome
property_value: exactMatch DOID:0060834
property_value: exactMatch http://identifiers.org/mesh/C537303
property_value: exactMatch http://identifiers.org/omim/609227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836573
property_value: exactMatch Orphanet:79478
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 xsd:anyURI {source="GARD:0009715"}

[Term]
id: MONDO:0012221
name: alpha-N-acetylgalactosaminidase deficiency type 1
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." [Orphanet:79279]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:79279"}
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [OMIM:609241]
synonym: "alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [GARD:0000116]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 3" RELATED [OMIM:609241]
synonym: "N-acetyl-alpha-D-galactosaminidase deficiency type III" RELATED [GARD:0003903]
synonym: "NAGA deficiency type 1" EXACT [Orphanet:79279]
synonym: "NAGA deficiency, type 1" RELATED [GARD:0000116, OMIM:609241]
synonym: "NAGA deficiency, type 3" RELATED [OMIM:609241]
synonym: "neuroaxonal dystrophy, Schindler type" RELATED [GARD:0000116, OMIM:609241]
synonym: "Schindler disease type 1" EXACT [Orphanet:79279]
synonym: "Schindler disease type I" RELATED [GARD:0000116]
synonym: "Schindler disease, type 1" RELATED [OMIM:609241]
synonym: "Schindler disease, type 3" RELATED [OMIM:609241]
synonym: "Schindler disease, type I" RELATED [OMIM:609241]
xref: GARD:0000116 {source="MONDO:equivalentTo"}
xref: GARD:0003903 {source="MONDO:equivalentTo"}
xref: ICD10:E77.1 {source="ORDO:79279/attributed", source="ORDO:79279/ntbt", source="Orphanet:79279"}
xref: OMIM:609241 {source="GARD:0000116", source="MONDO:equivalentTo", source="ORDO:79279/e", source="GARD:0003903", source="Orphanet:79279"}
xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"}
is_a: MONDO:0017779 {source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836544
property_value: exactMatch http://identifiers.org/omim/609241
property_value: exactMatch Orphanet:79279

[Term]
id: MONDO:0012222
name: alpha-N-acetylgalactosaminidase deficiency type 2
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." [Orphanet:79280]
subset: ordo_clinical_subtype {source="Orphanet:79280"}
synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [Orphanet:79280]
synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" RELATED [GARD:0009161]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, adult-onset" RELATED [OMIM:609242]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 2" RELATED [OMIM:609242]
synonym: "KANZAKI disease" RELATED [OMIM:609242]
synonym: "Kanzaki disease" EXACT [Orphanet:79280]
synonym: "NAGA deficiency type 2" EXACT [Orphanet:79280]
synonym: "Naga deficiency, type 2" RELATED [OMIM:609242]
synonym: "Schindler disease type 2" EXACT [Orphanet:79280]
synonym: "Schindler disease, type 2" RELATED [OMIM:609242]
xref: GARD:0009161 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.1 {source="Orphanet:79280", source="ORDO:79280/attributed", source="ORDO:79280/ntbt"}
xref: OMIM:609242 {source="ORDO:79280/e", source="Orphanet:79280", source="MONDO:equivalentTo"}
xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"}
xref: UMLS:C1836522 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:79280", source="MONDO:equivalentTo", source="OMIM:609242"}
is_a: MONDO:0017779 {source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency
property_value: exactMatch http://identifiers.org/omim/609242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836522
property_value: exactMatch Orphanet:79280

[Term]
id: MONDO:0012223
name: hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate
synonym: "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" EXACT [OMIM:609250]
synonym: "Marie Unna-like scalp hypotrichosis" RELATED [OMIM:609250]
xref: MESH:C563765 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609250 {source="MONDO:equivalentTo"}
xref: UMLS:C1836521 {source="OMIM:609250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563765
property_value: exactMatch http://identifiers.org/omim/609250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836521

[Term]
id: MONDO:0012224
name: FEB6
synonym: "convulsions, familial febrile, 6" RELATED [OMIM:609253]
synonym: "FEB6" EXACT [MONDO:Lexical, OMIM:609253]
synonym: "febrile seizures, familial, 6" RELATED [MONDO:Lexical, OMIM:609253]
synonym: "febrile seizures, familial, 6; FEB6" RELATED [OMIM:609253]
xref: MESH:C563764 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609253 {source="MONDO:equivalentTo"}
xref: UMLS:C1836518 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609253"}
is_a: MONDO:0000032 {source="DC-OMIM:609253", source="OMIM:609253"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C563764
property_value: exactMatch http://identifiers.org/omim/609253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836518

[Term]
id: MONDO:0012225
name: Senior-Loken syndrome 5
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IQCB1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 5" EXACT [MONDO:Lexical, OMIM:609254]
synonym: "SENIOR-Loken syndrome 5; SLSN5" RELATED [OMIM:609254]
synonym: "Senior-Loken syndrome caused by mutation in IQCB1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1, OMIM:609254]
synonym: "SLSN5" RELATED [MONDO:Lexical, OMIM:609254]
xref: MESH:C563763 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609254 {source="MONDO:equivalentTo"}
xref: UMLS:C1836517 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609254"}
is_a: MONDO:0017842 {source="DC-OMIM:609254", source="MONDO:Redundant", source="OMIM:609254"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/mesh/C563763
property_value: exactMatch http://identifiers.org/omim/609254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836517

[Term]
id: MONDO:0012226
name: FEB5
synonym: "convulsions, familial febrile, 5" RELATED [OMIM:609255]
synonym: "FEB5" EXACT [MONDO:Lexical, OMIM:609255]
synonym: "febrile seizures, familial, 5" RELATED [MONDO:Lexical, OMIM:609255]
synonym: "febrile seizures, familial, 5; FEB5" RELATED [OMIM:609255]
xref: MESH:C563762 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609255 {source="MONDO:equivalentTo"}
xref: UMLS:C1836507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609255"}
is_a: MONDO:0000032 {source="DC-OMIM:609255", source="OMIM:609255"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C563762
property_value: exactMatch http://identifiers.org/omim/609255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836507

[Term]
id: MONDO:0012227
name: MYP7
synonym: "myopia 7" RELATED [MONDO:Lexical, OMIM:609256]
synonym: "myopia 7; MYP7" RELATED [OMIM:609256]
synonym: "MYP7" EXACT [MONDO:Lexical, OMIM:609256]
xref: MESH:C563761 {source="MONDO:equivalentTo"}
xref: OMIM:609256 {source="MONDO:equivalentTo"}
xref: UMLS:C1836506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609256"}
is_a: MONDO:0001384 {source="DC-OMIM:609256", source="MESH:C563761", source="OMIM:609256"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563761
property_value: exactMatch http://identifiers.org/omim/609256
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836506

[Term]
id: MONDO:0012228
name: MYP8
synonym: "myopia 8" RELATED [MONDO:Lexical, OMIM:609257]
synonym: "myopia 8; MYP8" RELATED [OMIM:609257]
synonym: "MYP8" EXACT [MONDO:Lexical, OMIM:609257]
xref: MESH:C563760 {source="MONDO:equivalentTo"}
xref: OMIM:609257 {source="MONDO:equivalentTo"}
xref: UMLS:C1836505 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609257"}
is_a: MONDO:0001384 {source="DC-OMIM:609257", source="MESH:C563760", source="OMIM:609257"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563760
property_value: exactMatch http://identifiers.org/omim/609257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836505

[Term]
id: MONDO:0012229
name: MYP9
synonym: "myopia 9" RELATED [MONDO:Lexical, OMIM:609258]
synonym: "myopia 9; MYP9" RELATED [OMIM:609258]
synonym: "MYP9" EXACT [MONDO:Lexical, OMIM:609258]
xref: MESH:C563759 {source="MONDO:equivalentTo"}
xref: OMIM:609258 {source="MONDO:equivalentTo"}
xref: UMLS:C1836504 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609258"}
is_a: MONDO:0001384 {source="DC-OMIM:609258", source="MESH:C563759", source="OMIM:609258"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563759
property_value: exactMatch http://identifiers.org/omim/609258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836504

[Term]
id: MONDO:0012230
name: MYP10
synonym: "myopia 10" RELATED [MONDO:Lexical, OMIM:609259]
synonym: "myopia 10; MYP10" RELATED [OMIM:609259]
synonym: "MYP10" EXACT [MONDO:Lexical, OMIM:609259]
xref: MESH:C563758 {source="MONDO:equivalentTo"}
xref: OMIM:609259 {source="MONDO:equivalentTo"}
xref: UMLS:C1836503 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609259"}
is_a: MONDO:0001384 {source="DC-OMIM:609259", source="MESH:C563758", source="OMIM:609259"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563758
property_value: exactMatch http://identifiers.org/omim/609259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836503

[Term]
id: MONDO:0012231
name: Charcot-Marie-Tooth disease type 2A2
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." [Orphanet:99947]
subset: ordo_disease {source="Orphanet:99947"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2A2A" EXACT [NCIT:C150646]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A; CMT2A2A" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2" RELATED [MONDO:Lexical, OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2; CMT2A2" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A2" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [DOID:0110155]
synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [DOID:0110155]
synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [OMIM:609260]
synonym: "CMT2A2" EXACT [DOID:0110155, MONDO:Lexical, OMIM:609260, Orphanet:99947]
synonym: "CMT2A2A" RELATED [OMIM:609260]
synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155]
synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [OMIM:609260]
synonym: "HMSN IIA2" EXACT [DOID:0110155]
synonym: "HMSN IIa2" RELATED [OMIM:609260]
synonym: "HMSN2A2" EXACT [DOID:0110155]
synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110155 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:99947/attributed", source="ORDO:99947/ntbt", source="Orphanet:99947", source="DOID:0110155"}
xref: MESH:C563757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C150646 {source="MONDO:equivalentTo"}
xref: OMIM:609260 {source="ORDO:99947/e", source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155"}
xref: Orphanet:99947 {source="OMIM:609260", source="MONDO:equivalentTo", source="DOID:0110155"}
xref: SCTID:764850002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836485 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:609260", source="MONDO:equivalentTo", source="Orphanet:99947"}
is_a: MONDO:0018993 {source="DOID:0110155", source="MONDO:Redundant", source="Orphanet:99947"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110155
property_value: exactMatch http://identifiers.org/mesh/C563757
property_value: exactMatch http://identifiers.org/omim/609260
property_value: exactMatch http://identifiers.org/snomedct/764850002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836485
property_value: exactMatch NCIT:C150646
property_value: exactMatch Orphanet:99947

[Term]
id: MONDO:0012232
name: stuttering, familial persistent, 2
synonym: "STUT2" EXACT [MONDO:Lexical, OMIM:609261]
synonym: "stuttering, familial persistent, 2" RELATED [OMIM:609261]
synonym: "stuttering, familial persistent, 2; STUT2" RELATED [OMIM:609261]
xref: MESH:C563756 {source="MONDO:equivalentTo"}
xref: OMIM:609261 {source="MONDO:equivalentTo"}
xref: UMLS:C1836484 {source="OMIM:609261", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000723 {source="DC-OMIM:609261", source="OMIM:609261"} ! stutter disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C563756
property_value: exactMatch http://identifiers.org/omim/609261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836484

[Term]
id: MONDO:0012233
name: Li-Fraumeni syndrome 2
def: "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "CHEK2 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LFS2" RELATED [MONDO:Lexical, OMIM:609265]
synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265]
synonym: "Li-Fraumeni syndrome 2; LFS2" RELATED [OMIM:609265]
synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern]
synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265]
xref: MESH:C563755 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609265 {source="MONDO:equivalentTo"}
xref: UMLS:C1836482 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609265"}
is_a: MONDO:0018875 {source="DC-OMIM:609265", source="MESH:C563755", source="MONDO:Redundant", source="OMIM:609265"} ! Li-Fraumeni syndrome
property_value: exactMatch http://identifiers.org/mesh/C563755
property_value: exactMatch http://identifiers.org/omim/609265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836482

[Term]
id: MONDO:0012234
name: obsolete LFS3
is_obsolete: true
replaced_by: MONDO:0007903

[Term]
id: MONDO:0012235
name: autosomal recessive spinocerebellar ataxia 7
def: "Spinocerebellar ataxia autosomal recessive 7 , also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia . Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties ( dysarthria ), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements . Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7]
subset: gard_rare {source="GARD:0012232"}
subset: ordo_disease {source="Orphanet:284324"}
synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [DOID:0080059, MONDORULE:1, Orphanet:284324]
synonym: "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [GARD:0012232]
synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [Orphanet:284324]
synonym: "SCAR7" EXACT [MONDO:Lexical, OMIM:609270, Orphanet:284324]
synonym: "spinocerebellar ataxia autosomal recessive 7" RELATED [GARD:0012232]
synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:609270]
synonym: "spinocerebellar ataxia, autosomal recessive 7; SCAR7" RELATED [OMIM:609270]
synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270]
xref: DOID:0080059 {source="MONDO:equivalentTo"}
xref: GARD:0012232 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:284324/attributed", source="ORDO:284324/ntbt", source="Orphanet:284324"}
xref: MESH:C563753 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="ORDO:284324/e"}
xref: Orphanet:284324 {source="OMIM:609270", source="MONDO:equivalentTo"}
xref: UMLS:C1836474 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:284324"}
is_a: MONDO:0015244 {source="DOID:0080059", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch DOID:0080059
property_value: exactMatch http://identifiers.org/mesh/C563753
property_value: exactMatch http://identifiers.org/omim/609270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836474
property_value: exactMatch Orphanet:284324
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 xsd:anyURI {source="GARD:0012232"}

[Term]
id: MONDO:0012236
name: KTCN4
synonym: "keratoconus 4" RELATED [MONDO:Lexical, OMIM:609271]
synonym: "keratoconus 4; KTCN4" RELATED [OMIM:609271]
synonym: "KTCN4" EXACT [MONDO:Lexical, OMIM:609271]
xref: MESH:C563752 {source="MONDO:equivalentTo"}
xref: OMIM:609271 {source="MONDO:equivalentTo"}
xref: UMLS:C1836473 {source="NCBI:mim2gene_medline", source="OMIM:609271", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DC-OMIM:609271", source="MESH:C563752", source="OMIM:609271"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/mesh/C563752
property_value: exactMatch http://identifiers.org/omim/609271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836473

[Term]
id: MONDO:0012237
name: nemaline myopathy 6
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM6" RELATED [MONDO:Lexical, OMIM:609273]
synonym: "nemaline myopathy 6" EXACT [MONDO:Lexical, OMIM:609273]
synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935]
synonym: "nemaline myopathy 6; NEM6" RELATED [OMIM:609273]
synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1, OMIM:609273]
xref: DOID:0110935 {source="MONDO:equivalentTo"}
xref: MESH:C538398 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609273 {source="MONDO:equivalentTo", source="DOID:0110935"}
xref: UMLS:C1836472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609273"}
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
property_value: exactMatch DOID:0110935
property_value: exactMatch http://identifiers.org/mesh/C538398
property_value: exactMatch http://identifiers.org/omim/609273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836472

[Term]
id: MONDO:0012238
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEOA2" RELATED [MONDO:Lexical, OMIM:609283]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; PEOA2" RELATED [OMIM:609283]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:609283]
synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283]
synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563750 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609283 {source="MONDO:equivalentTo"}
xref: UMLS:C1836460 {source="OMIM:609283", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008003 {source="MONDOLEX:0012238", source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/mesh/C563750
property_value: exactMatch http://identifiers.org/omim/609283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836460

[Term]
id: MONDO:0012239
name: nemaline myopathy 1
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cap myopathy 1" RELATED [OMIM:609284]
synonym: "Nem1" EXACT [DOID:0110926, MONDO:Lexical, OMIM:609284]
synonym: "nemaline myopathy 1" EXACT [MONDO:Lexical, OMIM:609284]
synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT [DOID:0110926]
synonym: "nemaline myopathy 1; NEM1" RELATED [OMIM:609284]
synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 1" EXACT [DOID:0110926, MONDORULE:1, OMIM:609284]
synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110926 {source="MONDO:equivalentTo"}
xref: MESH:C538348 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609284 {source="MONDO:equivalentTo", source="DOID:0110926"}
xref: UMLS:C1836448 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609284"}
is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0100108 {comment="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714994
property_value: exactMatch DOID:0110926
property_value: exactMatch http://identifiers.org/mesh/C538348
property_value: exactMatch http://identifiers.org/omim/609284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836448

[Term]
id: MONDO:0012240
name: nemaline myopathy 4
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cap myopathy 2" RELATED [OMIM:609285]
synonym: "NEM4" EXACT [DOID:0110932, MONDO:Lexical, OMIM:609285]
synonym: "nemaline myopathy 4" EXACT [MONDO:Lexical, OMIM:609285]
synonym: "nemaline myopathy 4, autosomal dominant" EXACT [DOID:0110932]
synonym: "nemaline myopathy 4; NEM4" RELATED [OMIM:609285]
synonym: "nemaline myopathy caused by mutation in TPM2" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 4" EXACT [DOID:0110932, MONDORULE:1, OMIM:609285]
synonym: "TPM2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110932 {source="MONDO:equivalentTo"}
xref: MESH:C538351 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609285 {source="DOID:0110932", source="MONDO:equivalentTo"}
xref: UMLS:C1836447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609285"}
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807907
property_value: exactMatch DOID:0110932
property_value: exactMatch http://identifiers.org/mesh/C538351
property_value: exactMatch http://identifiers.org/omim/609285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836447

[Term]
id: MONDO:0012241
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEOA3" RELATED [MONDO:Lexical, OMIM:609286]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; PEOA3" RELATED [OMIM:609286]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:609286]
synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286]
synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563747 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609286 {source="MONDO:equivalentTo"}
xref: UMLS:C1836439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609286"}
is_a: MONDO:0008003 {source="MONDOLEX:0012241", source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/mesh/C563747
property_value: exactMatch http://identifiers.org/omim/609286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836439

[Term]
id: MONDO:0012242
name: VVS
synonym: "familial neurocardiogenic syncope" RELATED [GARD:0009502]
synonym: "familial vasovagal syncope" RELATED [GARD:0009502]
synonym: "syncope familial neurocardiogenic" RELATED [GARD:0009502]
synonym: "syncope, familial Neurocardiogenic" RELATED [OMIM:609289]
synonym: "syncope, familial VASOVAGAL" RELATED [MONDO:Lexical, OMIM:609289]
synonym: "syncope, familial VASOVAGAL; VVS" RELATED [OMIM:609289]
synonym: "VVS" EXACT [MONDO:Lexical, OMIM:609289]
xref: GARD:0009502 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536849 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609289 {source="MONDO:equivalentTo"}
xref: UMLS:C1836438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609289"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536849
property_value: exactMatch http://identifiers.org/omim/609289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836438

[Term]
id: MONDO:0012243
name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
synonym: "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" EXACT [OMIM:609296]
synonym: "Bilu syndrome" RELATED [OMIM:609296]
synonym: "Hoffman syndrome" RELATED [OMIM:609296]
xref: MESH:C563745 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609296 {source="MONDO:equivalentTo"}
xref: UMLS:C1836437 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609296"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563745
property_value: exactMatch http://identifiers.org/omim/609296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836437

[Term]
id: MONDO:0012244
name: prostate cancer, hereditary, 5
synonym: "HPC5" RELATED [OMIM:609299]
synonym: "prostate cancer, hereditary, 5" EXACT [OMIM:609299]
synonym: "prostate cancer, hereditary, type 5" EXACT [MONDORULE:1, OMIM:609299]
xref: MESH:C563744 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609299 {source="MONDO:equivalentTo"}
xref: UMLS:C1836436 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609299"}
is_a: MONDO:0023122 {source="MONDOLEX:0012244"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C563744
property_value: exactMatch http://identifiers.org/omim/609299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836436

[Term]
id: MONDO:0012245
name: epileptic encephalopathy, early infantile, 3
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern]
synonym: "EIEE3" RELATED [MONDO:Lexical, OMIM:609304]
synonym: "epileptic encephalopathy, early infantile, 3" EXACT [MONDO:Lexical, OMIM:609304]
synonym: "epileptic encephalopathy, early infantile, 3; EIEE3" RELATED [OMIM:609304]
synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1, OMIM:609304]
synonym: "SLC25A22 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:609304 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/609304

[Term]
id: MONDO:0012246
name: spinocerebellar ataxia type 26
def: "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." [Orphanet:101112]
subset: ordo_disease {source="Orphanet:101112"}
synonym: "SCA26" EXACT [MONDO:Lexical, OMIM:609306, Orphanet:101112]
synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306]
synonym: "spinocerebellar ataxia 26; SCA26" RELATED [OMIM:609306]
synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306]
xref: DOID:0050975 {source="MONDO:equivalentTo"}
xref: GARD:0009995 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:101112", source="ORDO:101112/attributed", source="ORDO:101112/ntbt"}
xref: MESH:C537203 {source="ORDO:101112/e", source="Orphanet:101112", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609306 {source="ORDO:101112/e", source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo"}
xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"}
xref: SCTID:718769009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1836395 {source="OMIM:609306", source="ORDO:101112/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:101112", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="Orphanet:101112"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050975
property_value: exactMatch http://identifiers.org/mesh/C537203
property_value: exactMatch http://identifiers.org/omim/609306
property_value: exactMatch http://identifiers.org/snomedct/718769009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836395
property_value: exactMatch Orphanet:101112

[Term]
id: MONDO:0012247
name: spinocerebellar ataxia type 27
def: "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." [Orphanet:98764]
subset: ordo_disease {source="Orphanet:98764"}
synonym: "cerebellar ataxia autosomal dominant FGF14-related" RELATED [GARD:0009963]
synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [OMIM:609307]
synonym: "SCA27" EXACT [MONDO:Lexical, OMIM:609307, Orphanet:98764]
synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307]
synonym: "spinocerebellar ataxia 27; SCA27" RELATED [OMIM:609307]
synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307]
xref: DOID:0050976 {source="MONDO:equivalentTo"}
xref: GARD:0009963 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:98764", source="ORDO:98764/attributed", source="ORDO:98764/ntbt"}
xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:98764/e"}
xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentTo", source="DOID:0050976", source="ORDO:98764/e"}
xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"}
xref: SCTID:719252002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1836383 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609307", source="Orphanet:98764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98764/e"}
xref: UMLS:C4304846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:98764"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050976
property_value: exactMatch http://identifiers.org/mesh/C537204
property_value: exactMatch http://identifiers.org/omim/609307
property_value: exactMatch http://identifiers.org/snomedct/719252002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836383
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304846
property_value: exactMatch Orphanet:98764

[Term]
id: MONDO:0012248
name: autosomal recessive limb-girdle muscular dystrophy type 2K
def: "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." [Orphanet:86812]
subset: ordo_disease {source="Orphanet:86812"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern]
synonym: "LGMD2K" EXACT [DOID:0110297, Orphanet:86812]
synonym: "limb-girdle muscular dystrophy - intellectual disability" RELATED [GARD:0012535]
synonym: "limb-girdle muscular dystrophy type 2K" RELATED [GARD:0012535]
synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [DOID:0110297, Orphanet:86812]
synonym: "MDDGC1" EXACT [DOID:0110297, MONDO:Lexical, OMIM:609308]
synonym: "muscular dystrophy limb-girdle type 2K" EXACT [DOID:0110297]
synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [OMIM:609308]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [DOID:0110297]
synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1" EXACT [NCIT:C133730]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical, OMIM:609308]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; MDDGC1" RELATED [OMIM:609308]
synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110297 {source="MONDO:equivalentTo"}
xref: EFO:0009145 {source="MONDO:equivalentTo"}
xref: GARD:0012535 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:86812/ntbt", source="Orphanet:86812", source="DOID:0110297", source="ORDO:86812/inclusion"}
xref: NCIT:C133730 {source="MONDO:equivalentTo"}
xref: OMIM:609308 {source="ORDO:86812/e", source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297"}
xref: Orphanet:86812 {source="OMIM:609308", source="MONDO:equivalentTo", source="DOID:0110297"}
xref: SCTID:720523006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0000173 {source="OMIM:609308"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110297", source="MONDO:Redundant", source="MONDOLEX:0012248", source="OMIM:609308", source="Orphanet:86812"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016184 {source="Orphanet:86812"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1
is_a: MONDO:0017745 {source="Orphanet:86812"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:86812"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836373
property_value: exactMatch DOID:0110297
property_value: exactMatch http://identifiers.org/omim/609308
property_value: exactMatch http://identifiers.org/snomedct/720523006
property_value: exactMatch NCIT:C133730
property_value: exactMatch Orphanet:86812

[Term]
id: MONDO:0012249
name: colorectal cancer, hereditary nonpolyposis, type 2
def: "A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage." [NCIT:C6726]
synonym: "COCA2" RELATED [OMIM:609310]
synonym: "colon cancer, familial nonpolyposis, type 2" RELATED [OMIM:609310]
synonym: "colorectal cancer, hereditary nonpolyposis, type 2" EXACT [MONDO:Lexical, OMIM:609310]
synonym: "colorectal cancer, hereditary nonpolyposis, type 2; HNPCC2" RELATED [OMIM:609310]
synonym: "familial non-polyposis colon cancer type 2" EXACT [NCIT:C6726]
synonym: "Hereditary non-polyposis colon cancer type 2" EXACT [NCIT:C6726]
synonym: "Hereditary nonpolyposis colorectal cancer type 2" EXACT [NCIT:C6726]
synonym: "HNPCC2" RELATED [MONDO:Lexical, OMIM:609310]
synonym: "Lynch 2 syndrome" EXACT [NCIT:C6726]
xref: DOID:0070274 {source="MONDO:equivalentTo"}
xref: MESH:D055847 {source="MONDO:equivalentTo"}
xref: NCIT:C6726 {source="MONDO:equivalentTo"}
xref: OMIM:609310 {source="MONDO:equivalentTo"}
is_a: MONDO:0005835 {source="DC-OMIM:609310", source="NCIT:C6726"} ! Lynch syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333991
property_value: exactMatch DOID:0070274
property_value: exactMatch http://identifiers.org/mesh/D055847
property_value: exactMatch http://identifiers.org/omim/609310
property_value: exactMatch NCIT:C6726

[Term]
id: MONDO:0012250
name: Charcot-Marie-Tooth disease type 4H
def: "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" [Orphanet:99954]
subset: gard_rare {source="GARD:0012442"}
subset: ordo_disease {source="Orphanet:99954"}
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [OMIM:609311]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [OMIM:609311]
synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical, OMIM:609311]
synonym: "Charcot-Marie-Tooth disease, type 4H; CMT4H" RELATED [OMIM:609311]
synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [DOID:0110192]
synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311]
synonym: "CMT4H" EXACT [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954]
synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110192 {source="MONDO:equivalentTo"}
xref: GARD:0012442 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110192", source="Orphanet:99954", source="ORDO:99954/attributed", source="ORDO:99954/ntbt"}
xref: MESH:C563740 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609311 {source="ORDO:99954/e", source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo"}
xref: Orphanet:99954 {source="DOID:0110192", source="MONDO:equivalentTo", source="OMIM:609311"}
xref: SCTID:715802008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1836336 {source="NCBI:mim2gene_medline", source="Orphanet:99954", source="MONDO:equivalentTo", source="OMIM:609311"}
is_a: MONDO:0018995 {source="DOID:0110192", source="MONDO:Redundant", source="Orphanet:99954", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110192
property_value: exactMatch http://identifiers.org/mesh/C563740
property_value: exactMatch http://identifiers.org/omim/609311
property_value: exactMatch http://identifiers.org/snomedct/715802008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836336
property_value: exactMatch Orphanet:99954
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h xsd:anyURI {source="GARD:0012442"}

[Term]
id: MONDO:0012251
name: MEDNIK syndrome
def: "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." [Orphanet:171851]
subset: ordo_disease {source="Orphanet:171851"}
synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851]
synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851]
synonym: "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" EXACT [Orphanet:171851]
synonym: "MEDNIK" RELATED [MONDO:Lexical, OMIM:609313]
synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [DOID:0060483]
synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED [MONDO:Lexical, OMIM:609313]
synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK" RELATED [OMIM:609313]
xref: DOID:0060483 {source="MONDO:equivalentTo"}
xref: MESH:C563739 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609313 {source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851", source="ORDO:171851/e"}
xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"}
xref: SCTID:722035007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C1836330 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171851", source="OMIM:609313"}
xref: UMLS:CN229776 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:171851"} ! syndromic intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017272 {source="Orphanet:171851"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0017762 {source="Orphanet:171851"} ! disorder of copper metabolism
is_a: MONDO:0019270 {source="Orphanet:171851", source="linkedlifedata"} ! erythrokeratoderma
is_a: MONDO:0019589 {source="Orphanet:171851"} ! syndromic genetic deafness
property_value: exactMatch DOID:0060483
property_value: exactMatch http://identifiers.org/mesh/C563739
property_value: exactMatch http://identifiers.org/omim/609313
property_value: exactMatch http://identifiers.org/snomedct/722035007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229776
property_value: exactMatch Orphanet:171851

[Term]
id: MONDO:0012252
name: rhabdoid tumor predisposition syndrome 1
def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "At/RT" RELATED [OMIM:609322]
synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322]
synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern]
synonym: "malignant rhabdoid tumor, somatic" RELATED [OMIM:609322]
synonym: "rhabdoid tumor predisposition syndrome 1" EXACT [MONDO:Lexical, OMIM:609322]
synonym: "rhabdoid tumor predisposition syndrome 1; RTPS1" RELATED [OMIM:609322]
synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1, OMIM:609322]
synonym: "RTPS1" RELATED [MONDO:Lexical, OMIM:609322]
synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "teratoid tumor, atypical" RELATED [OMIM:609322]
xref: OMIM:609322 {source="MONDO:equivalentTo"}
is_a: MONDO:0016473 {source="MONDO:Redundant", source="MONDOLEX:0012252", source="OMIM:609322", source="ORDO:231108/btnt"} ! familial rhabdoid tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836326
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836327
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750405
property_value: exactMatch http://identifiers.org/omim/609322

[Term]
id: MONDO:0012253
name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
def: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." [Orphanet:166029]
subset: ordo_disease {source="Orphanet:166029"}
synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324]
xref: ICD10:Q77.3 {source="MONDO:relatedTo", source="ORDO:166029/attributed", source="ORDO:166029/ntbt", source="Orphanet:166029"}
xref: MESH:C563736 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609324 {source="MONDO:equivalentTo", source="ORDO:166029/e", source="Orphanet:166029"}
xref: Orphanet:166029 {source="MONDO:equivalentTo", source="OMIM:609324"}
xref: UMLS:C1836315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166029", source="OMIM:609324"}
is_a: MONDO:0016648 {source="Orphanet:166029"} ! multiple epiphyseal dysplasia (disease)
property_value: exactMatch http://identifiers.org/mesh/C563736
property_value: exactMatch http://identifiers.org/omim/609324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836315
property_value: exactMatch Orphanet:166029

[Term]
id: MONDO:0012254
name: multiple epiphyseal dysplasia, with miniepiphyses
def: "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." [Orphanet:166032]
subset: ordo_disease {source="Orphanet:166032"}
synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325]
xref: ICD10:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="ORDO:166032/attributed", source="ORDO:166032/ntbt"}
xref: MESH:C563735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="ORDO:166032/e"}
xref: Orphanet:166032 {source="MONDO:equivalentTo", source="OMIM:609325"}
xref: UMLS:C1836307 {source="Orphanet:166032", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609325"}
is_a: MONDO:0016648 {source="Orphanet:166032"} ! multiple epiphyseal dysplasia (disease)
property_value: exactMatch http://identifiers.org/mesh/C563735
property_value: exactMatch http://identifiers.org/omim/609325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836307
property_value: exactMatch Orphanet:166032

[Term]
id: MONDO:0012255
name: chromosome 18 pericentric inversion
synonym: "chromosome 18 pericentric inversion" EXACT [OMIM:609334]
xref: MESH:C563734 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609334 {source="MONDO:equivalentTo"}
xref: UMLS:C1836305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609334"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563734
property_value: exactMatch http://identifiers.org/omim/609334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836305

[Term]
id: MONDO:0012256
name: hereditary spastic paraplegia 28
def: "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." [Orphanet:101008]
subset: ordo_disease {source="Orphanet:101008"}
synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779]
synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779]
synonym: "DDHD1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE:2]
synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340]
synonym: "spastic paraplegia 28, autosomal recessive; SPG28" RELATED [OMIM:609340]
synonym: "SPG28" EXACT [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008]
xref: DOID:0110779 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110779", source="ORDO:101008/attributed", source="ORDO:101008/ntbt", source="Orphanet:101008"}
xref: MESH:C563732 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="ORDO:101008/e", source="Orphanet:101008"}
xref: Orphanet:101008 {source="DOID:0110779", source="MONDO:equivalentTo", source="OMIM:609340"}
xref: SCTID:763376002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836295 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609340", source="Orphanet:101008"}
is_a: MONDO:0015090 {source="MONDO:Redundant", source="Orphanet:101008"} ! autosomal recessive pure spastic paraplegia
property_value: exactMatch DOID:0110779
property_value: exactMatch http://identifiers.org/mesh/C563732
property_value: exactMatch http://identifiers.org/omim/609340
property_value: exactMatch http://identifiers.org/snomedct/763376002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836295
property_value: exactMatch Orphanet:101008

[Term]
id: MONDO:0012257
name: Cerebrorenodigital syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1396"}
synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345]
xref: ICD10:Q87.8 {source="Orphanet:1396", source="ORDO:1396/attributed", source="ORDO:1396/ntbt"}
xref: MESH:C563731 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609345 {source="Orphanet:1396", source="ORDO:1396/e", source="MONDO:equivalentTo"}
xref: Orphanet:1396 {source="MONDO:equivalentTo", source="OMIM:609345"}
xref: UMLS:C1836287 {source="Orphanet:1396", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609345"}
is_a: MONDO:0019721 {source="Orphanet:1396"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0019741 {source="Orphanet:1396"} ! familial cystic renal disease
property_value: exactMatch http://identifiers.org/mesh/C563731
property_value: exactMatch http://identifiers.org/omim/609345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836287
property_value: exactMatch Orphanet:1396

[Term]
id: MONDO:0012258
name: epidermolysis bullosa simplex with circinate migratory erythema
def: "Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." [Orphanet:158681]
subset: ordo_disease {source="Orphanet:158681"}
synonym: "EBS-migr" EXACT [Orphanet:158681]
synonym: "epidermolysis bullosa simplex with migratory circinate erythema" RELATED [OMIM:609352]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158681", source="ORDO:158681/attributed", source="ORDO:158681/ntbt"}
xref: MESH:C563730 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609352 {source="MONDO:equivalentTo", source="Orphanet:158681", source="ORDO:158681/e"}
xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"}
xref: SCTID:716700003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1836284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609352", source="Orphanet:158681"}
is_a: MONDO:0015551 {source="Orphanet:158681"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C563730
property_value: exactMatch http://identifiers.org/omim/609352
property_value: exactMatch http://identifiers.org/snomedct/716700003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836284
property_value: exactMatch Orphanet:158681

[Term]
id: MONDO:0012259
name: colloid cysts of third ventricle
def: "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain ( hydrocephalus ) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." [https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle]
subset: gard_rare {source="GARD:0009878"}
synonym: "colloid cysts of third ventricle" EXACT [OMIM:609363]
synonym: "neuroepithelial cysts of third ventricle" RELATED [OMIM:609363]
xref: GARD:0009878 {source="MONDO:equivalentTo"}
xref: MESH:C535966 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609363 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266481
property_value: exactMatch http://identifiers.org/mesh/C535966
property_value: exactMatch http://identifiers.org/omim/609363
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle xsd:anyURI {source="GARD:0009878"}

[Term]
id: MONDO:0012260
name: cataract 35
def: "A cataract that has_material_basis_in variation in the region 19q13." [DOID:0110261, PMID:15671291]
synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [DOID:0110261]
synonym: "cataract 35" EXACT [MONDO:Lexical, OMIM:609376]
synonym: "cataract 35, congenital nuclear" EXACT [DOID:0110261]
synonym: "cataract 35; CTRCT35" RELATED [OMIM:609376]
synonym: "cataract type 35" EXACT [DOID:0110261, MONDORULE:2]
synonym: "cataract, congenital nuclear, autosomal recessive 1" RELATED [OMIM:609376]
synonym: "CATCN1" EXACT [DOID:0110261]
synonym: "CTRCT35" EXACT [DOID:0110261, MONDO:Lexical, OMIM:609376]
xref: DOID:0110261 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110261"}
xref: MESH:C563728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609376 {source="MONDO:equivalentTo", source="DOID:0110261"}
xref: UMLS:C1836272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609376"}
is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract
property_value: exactMatch DOID:0110261
property_value: exactMatch http://identifiers.org/mesh/C563728
property_value: exactMatch http://identifiers.org/omim/609376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836272

[Term]
id: MONDO:0012261
name: AUTS6
subset: predisposition
synonym: "autism, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:609378]
synonym: "autism, susceptibility to, 6; AUTS6" RELATED [OMIM:609378]
synonym: "AUTS6" EXACT [MONDO:Lexical, OMIM:609378]
xref: OMIM:609378 {source="MONDO:equivalentTo"}
xref: UMLS:C1836271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609378"}
is_a: MONDO:0005260 {source="DC-OMIM:609378", source="MONDOLEX:0012261", source="OMIM:609378"} ! autism (disease)
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/609378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836271

[Term]
id: MONDO:0012262
name: CFEOM3C
synonym: "CFEOM3C" EXACT [MONDO:Lexical, OMIM:609384]
synonym: "Feom4 locus" RELATED [OMIM:609384]
synonym: "fibrosis of extraocular muscles, congenital, 3C" RELATED [MONDO:Lexical, OMIM:609384]
synonym: "fibrosis of extraocular muscles, congenital, 3C; CFEOM3C" RELATED [OMIM:609384]
xref: MESH:C567666 {source="MONDO:equivalentTo"}
xref: OMIM:609384 {source="MONDO:equivalentTo"}
xref: UMLS:C2750404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609384"}
is_a: MONDO:0007614 {source="OMIM:609384", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles
property_value: exactMatch http://identifiers.org/mesh/C567666
property_value: exactMatch http://identifiers.org/omim/609384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750404

[Term]
id: MONDO:0012263
name: AIS4
subset: predisposition
synonym: "AIS4" EXACT [MONDO:Lexical, OMIM:609400]
synonym: "autoimmune disease susceptibility locus, chromosome 4-related" RELATED [OMIM:609400]
synonym: "autoimmune disease, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:609400]
synonym: "autoimmune disease, susceptibility to, 4; AIS4" RELATED [OMIM:609400]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 5" RELATED [OMIM:609400]
xref: OMIM:609400 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DC-OMIM:609400", source="OMIM:609400"} ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836258
property_value: exactMatch http://identifiers.org/omim/609400

[Term]
id: MONDO:0012264
name: PEE2
synonym: "PEE2" EXACT [MONDO:Lexical, OMIM:609402]
synonym: "PREECLAMPSIA/eclampsia 2" RELATED [MONDO:Lexical, OMIM:609402]
synonym: "PREECLAMPSIA/eclampsia 2; PEE2" RELATED [OMIM:609402]
xref: OMIM:609402 {source="MONDO:equivalentTo"}
xref: UMLS:C1836257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609402"}
is_a: MONDO:0005081 {source="DC-OMIM:609402", source="MONDOLEX:0012264", source="OMIM:609402"} ! preeclampsia
property_value: exactMatch http://identifiers.org/omim/609402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836257

[Term]
id: MONDO:0012265
name: PEE3
synonym: "PEE3" EXACT [MONDO:Lexical, OMIM:609403]
synonym: "PREECLAMPSIA/eclampsia 3" RELATED [MONDO:Lexical, OMIM:609403]
synonym: "PREECLAMPSIA/eclampsia 3; PEE3" RELATED [OMIM:609403]
xref: OMIM:609403 {source="MONDO:equivalentTo"}
xref: UMLS:C1836256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609403"}
is_a: MONDO:0005081 {source="DC-OMIM:609403", source="MONDOLEX:0012265", source="OMIM:609403"} ! preeclampsia
property_value: exactMatch http://identifiers.org/omim/609403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836256

[Term]
id: MONDO:0012266
name: preeclampsia/eclampsia 4
def: "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEE4" RELATED [MONDO:Lexical, OMIM:609404]
synonym: "preeclampsia caused by mutation in STOX1" EXACT [MONDO:design_pattern]
synonym: "preeclampsia/eclampsia 4" EXACT [MONDO:Lexical, OMIM:609404]
synonym: "PREECLAMPSIA/eclampsia 4; PEE4" RELATED [OMIM:609404]
synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1, OMIM:609404]
synonym: "STOX1 preeclampsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563724 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609404 {source="MONDO:equivalentTo"}
xref: UMLS:C1836255 {source="OMIM:609404", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005081 {source="DC-OMIM:609404", source="MESH:C563724", source="MONDO:Redundant", source="MONDOLEX:0012266", source="OMIM:609404"} ! preeclampsia
property_value: exactMatch http://identifiers.org/mesh/C563724
property_value: exactMatch http://identifiers.org/omim/609404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836255

[Term]
id: MONDO:0012267
name: holoprosencephaly 8
def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13." [DOID:0110879, PMID:15820313]
synonym: "holoprosencephaly 8" EXACT [MONDO:Lexical, OMIM:609408]
synonym: "holoprosencephaly 8; HPE8" RELATED [OMIM:609408]
synonym: "holoprosencephaly type 8" EXACT [DOID:0110879, MONDORULE:1]
synonym: "HPE8" EXACT [DOID:0110879, MONDO:Lexical, OMIM:609408]
xref: DOID:0110879 {source="MONDO:equivalentTo"}
xref: MESH:C563723 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609408 {source="DOID:0110879", source="MONDO:equivalentTo"}
xref: UMLS:C1836254 {source="NCBI:mim2gene_medline", source="OMIM:609408", source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="DC-OMIM:609408", source="DOID:0110879", source="MESH:C563723", source="OMIM:609408"} ! holoprosencephaly
property_value: exactMatch DOID:0110879
property_value: exactMatch http://identifiers.org/mesh/C563723
property_value: exactMatch http://identifiers.org/omim/609408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836254

[Term]
id: MONDO:0012268
name: AIDS
def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." [NCIT:P378]
synonym: "acquired immune deficiency" EXACT [DOID:635, NCIT:C2851]
synonym: "acquired immune deficiency syndrome" RELATED [DOID:635]
synonym: "acquired immunodeficiency disease" EXACT [NCIT:C2851]
synonym: "acquired immunodeficiency syndrome" RELATED [DOID:635]
synonym: "acquired immunodeficiency syndrome, AIDS" EXACT [NCIT:C2851]
synonym: "AIDS" EXACT [DOID:635]
synonym: "AIDS, acquired immunodeficiency syndrome" EXACT [NCIT:C2851]
xref: DOID:635 {source="MONDO:equivalentTo", source="EFO:0000765"}
xref: EFO:0000765 {source="DOID:635", source="MONDO:equivalentTo"}
xref: ICD10:B20 {source="DOID:635"}
xref: MESH:D000163 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765", source="MONDO:ontobio"}
xref: NCIT:C2851 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765", source="MONDO:kboom-pr-1.00/0.90/22.15"}
xref: SCTID:62479008 {source="DOID:635", source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo", source="EFO:0000765"}
is_a: MONDO:0003780 {source="NCIT:C2851"} ! T-cell immunodeficiency
is_a: MONDO:0005109 {source="DOID:635", source="EFO:0000765", source="MESH:D000163", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! HIV infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186705005
property_value: closeMatch http://identifiers.org/snomedct/186715004
property_value: closeMatch http://identifiers.org/snomedct/234644008
property_value: closeMatch http://identifiers.org/snomedct/266201009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001175
property_value: closeMatch Orphanet:319269
property_value: exactMatch DOID:635
property_value: exactMatch http://identifiers.org/mesh/D000163
property_value: exactMatch http://identifiers.org/snomedct/62479008
property_value: exactMatch NCIT:C2851

[Term]
id: MONDO:0012269
name: chromosome 3q29 microdeletion syndrome
def: "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." [Orphanet:65286]
subset: ordo_malformation_syndrome {source="Orphanet:65286"}
synonym: "3q subtelomere deletion syndrome" EXACT [DOID:0060419, Orphanet:65286]
synonym: "3q29 deletion" RELATED [GARD:0011974]
synonym: "3q29 deletion syndrome" RELATED [GARD:0011974]
synonym: "3q29 microdeletion syndrome" EXACT [DOID:0060419]
synonym: "3qter deletion" EXACT [DOID:0060419, Orphanet:65286]
synonym: "chromosome 3q29 deletion syndrome" RELATED [OMIM:609425]
synonym: "Del(3)(q29)" EXACT [Orphanet:65286]
synonym: "microdeletion 3Q29 syndrome" RELATED [OMIM:609425]
synonym: "monosomy 3q29" EXACT [Orphanet:65286]
synonym: "monosomy 3qter" EXACT [Orphanet:65286]
xref: DOID:0060419 {source="MONDO:equivalentTo"}
xref: GARD:0011974 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:65286/attributed", source="ORDO:65286/ntbt", source="Orphanet:65286"}
xref: MESH:C567184 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060419"}
xref: OMIM:609425 {source="MONDO:equivalentTo", source="ORDO:65286/e", source="DOID:0060419", source="Orphanet:65286"}
xref: Orphanet:65286 {source="MONDO:equivalentTo", source="DOID:0060419", source="OMIM:609425"}
xref: SCTID:716456000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C2674949 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:65286", source="OMIM:609425"}
is_a: MONDO:0000761 {source="DC-OMIM:609425", source="DOID:0060419"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016902 {source="Orphanet:65286"} ! partial deletion of the long arm of chromosome 3
property_value: exactMatch DOID:0060419
property_value: exactMatch http://identifiers.org/mesh/C567184
property_value: exactMatch http://identifiers.org/omim/609425
property_value: exactMatch http://identifiers.org/snomedct/716456000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674949
property_value: exactMatch Orphanet:65286

[Term]
id: MONDO:0012270
name: Tukel syndrome
synonym: "Cfeom-U" RELATED [OMIM:609428]
synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" RELATED [GARD:0009814]
synonym: "fibrosis of extraocular muscles, congenital, 4" RELATED [OMIM:609428]
synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies" RELATED [OMIM:609428]
synonym: "Tukel syndrome" EXACT [OMIM:609428]
xref: GARD:0009814 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:609428 {source="MONDO:equivalentTo"}
xref: UMLS:C1836217 {source="OMIM:609428", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007614 {source="OMIM:609428", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles
property_value: exactMatch http://identifiers.org/omim/609428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836217

[Term]
id: MONDO:0012271
name: mesoaxial synostotic syndactyly with phalangeal reduction
def: "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." [Orphanet:157801]
subset: ordo_morphological_anomaly {source="Orphanet:157801"}
synonym: "MSSD" EXACT [MONDO:Lexical, OMIM:609432, Orphanet:157801]
synonym: "syndactyly Malik-Percin type" RELATED [GARD:0010590]
synonym: "syndactyly mesoaxial synostotic with phalangeal reduction" RELATED [GARD:0010590]
synonym: "syndactyly type 9" EXACT [Orphanet:157801]
synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801]
synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432]
synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction; MSSD" RELATED [OMIM:609432]
synonym: "syndactyly, type 9" RELATED [OMIM:609432]
xref: GARD:0010590 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q70.0 {source="ORDO:157801/attributed", source="ORDO:157801/ntbt", source="Orphanet:157801"}
xref: ICD10:Q70.2 {source="ORDO:157801/attributed", source="ORDO:157801/ntbt", source="Orphanet:157801"}
xref: MESH:C563721 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609432 {source="MONDO:equivalentTo", source="ORDO:157801/e", source="Orphanet:157801"}
xref: Orphanet:157801 {source="MONDO:equivalentTo", source="OMIM:609432"}
xref: SCTID:724170007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157801", source="OMIM:609432", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019530 {source="Orphanet:157801"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/mesh/C563721
property_value: exactMatch http://identifiers.org/omim/609432
property_value: exactMatch http://identifiers.org/snomedct/724170007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836206
property_value: exactMatch Orphanet:157801

[Term]
id: MONDO:0012272
name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block
subset: gard_rare {source="GARD:0010064"}
synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial block" RELATED [OMIM:609438]
xref: GARD:0010064 {source="MONDO:equivalentTo"}
xref: MESH:C537452 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609438 {source="MONDO:equivalentTo"}
xref: UMLS:C1836202 {source="OMIM:609438", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537452
property_value: exactMatch http://identifiers.org/omim/609438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block xsd:anyURI {source="GARD:0010064"}

[Term]
id: MONDO:0012273
name: autosomal recessive nonsyndromic deafness 48
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 48" EXACT [DOID:0110505]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 48" EXACT [DOID:0110505, MONDORULE:2]
synonym: "CIB2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:609439]
synonym: "deafness, autosomal recessive 48; DFNB48" RELATED [OMIM:609439]
synonym: "deafness, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:609439]
synonym: "DFNB48" EXACT [DOID:0110505, MONDO:Lexical, OMIM:609439]
xref: DOID:0110505 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110505"}
xref: MESH:C563720 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609439 {source="DOID:0110505", source="MONDO:equivalentTo"}
xref: UMLS:C1836199 {source="OMIM:609439", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609439", source="DOID:0110505", source="MONDO:Redundant", source="OMIM:609439"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110505
property_value: exactMatch http://identifiers.org/mesh/C563720
property_value: exactMatch http://identifiers.org/omim/609439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836199

[Term]
id: MONDO:0012274
name: acromesomelic dysplasia, Demirhan type
subset: gard_rare
synonym: "acromesomelic dysplasia, Demirhan type" EXACT [MONDO:Lexical, OMIM:609441]
synonym: "acromesomelic dysplasia, DEMIRHAN type; AMDD" RELATED [OMIM:609441]
synonym: "AMDD" RELATED [MONDO:Lexical, OMIM:609441]
synonym: "chondrodysplasia acromesomelic with genital anomalies" RELATED [GARD:0010077]
synonym: "chondrodysplasia, acromesomelic, with or without genital anomalies" RELATED [OMIM:609441]
xref: GARD:0010077 {source="MONDO:equivalentTo"}
xref: MESH:C537913 {source="MONDO:equivalentTo"}
xref: OMIM:609441 {source="GARD:0010077", source="MONDO:equivalentTo"}
is_a: MONDO:0019696 ! acromesomelic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836182
property_value: exactMatch http://identifiers.org/mesh/C537913
property_value: exactMatch http://identifiers.org/omim/609441
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies xsd:anyURI {source="GARD:0010077"}

[Term]
id: MONDO:0012275
name: fetal valproate syndrome
def: "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." [Orphanet:1906]
subset: gard_rare {source="GARD:0005447"}
subset: ordo_malformation_syndrome {source="Orphanet:1906"}
synonym: "fetal valproate syndrome" EXACT [OMIM:609442]
synonym: "fetal valproic acid syndrome" EXACT [DOID:0060471, Orphanet:1906]
synonym: "FVS" RELATED [GARD:0005447]
synonym: "susceptibility to valproate embryopathy" RELATED [GARD:0005447]
synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442]
synonym: "valproic acid embryopathy" RELATED [GARD:0005447]
xref: DOID:0060471 {source="MONDO:equivalentTo"}
xref: GARD:0005447 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="Orphanet:1906", source="ORDO:1906/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10016524 {source="Orphanet:1906", source="ORDO:1906/e"}
xref: MESH:C536525 {source="Orphanet:1906", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060471", source="ORDO:1906/e"}
xref: NCIT:C98930 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060471"}
xref: OMIM:609442 {source="Orphanet:1906", source="MONDO:equivalentTo", source="DOID:0060471", source="ORDO:1906/e"}
xref: Orphanet:1906 {source="MONDO:equivalentTo", source="OMIM:609442", source="DOID:0060471"}
xref: SCTID:17231009 {source="MONDO:equivalentTo", source="DOID:0060471", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0236026 {source="Orphanet:1906", source="MONDO:equivalentTo", source="NCIT:C98930", source="DOID:0060471", source="ORDO:1906/e"}
is_a: MONDO:0002254 {source="DOID:0060471", source="MONDOLEX:0012275", source="NCIT:C98930"} ! syndromic disease
is_a: MONDO:0015323 {source="Orphanet:1906"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0018262 {source="Orphanet:1906"} ! fetal anticonvulsant syndrome
property_value: closeMatch http://identifiers.org/snomedct/205792006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876218
property_value: exactMatch DOID:0060471
property_value: exactMatch http://identifiers.org/meddra/10016524
property_value: exactMatch http://identifiers.org/mesh/C536525
property_value: exactMatch http://identifiers.org/omim/609442
property_value: exactMatch http://identifiers.org/snomedct/17231009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236026
property_value: exactMatch NCIT:C98930
property_value: exactMatch Orphanet:1906
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome xsd:anyURI {source="GARD:0005447"}

[Term]
id: MONDO:0012276
name: generalized epilepsy-paroxysmal dyskinesia syndrome
def: "gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." [Orphanet:79137]
subset: ordo_disease {source="Orphanet:79137"}
synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446]
synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical, OMIM:609446]
synonym: "generalized epilepsy and paroxysmal dyskinesia; GEPD" RELATED [OMIM:609446]
synonym: "GEPD" EXACT [MONDO:Lexical, OMIM:609446, Orphanet:79137]
synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446]
synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; PNKD3" RELATED [OMIM:609446]
synonym: "PNKD3" RELATED [OMIM:609446]
xref: ICD10:G40.3 {source="ORDO:79137/attributed", source="ORDO:79137/ntbt", source="Orphanet:79137"}
xref: MESH:C563719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609446 {source="MONDO:equivalentTo", source="ORDO:79137/e", source="Orphanet:79137"}
xref: Orphanet:79137 {source="MONDO:equivalentTo", source="OMIM:609446"}
xref: UMLS:C1836173 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79137", source="OMIM:609446"}
is_a: MONDO:0017704 {source="Orphanet:79137"} ! familial partial epilepsy
property_value: exactMatch http://identifiers.org/mesh/C563719
property_value: exactMatch http://identifiers.org/omim/609446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836173
property_value: exactMatch Orphanet:79137

[Term]
id: MONDO:0012277
name: myofibrillar myopathy 4
def: "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." [Orphanet:98912]
subset: ordo_disease {source="Orphanet:98912"}
synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [Orphanet:98912]
synonym: "LDB3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM4" RELATED [MONDO:Lexical, OMIM:609452]
synonym: "myofibrillar myopathy (disease) caused by mutation in LDB3" EXACT []
synonym: "myofibrillar myopathy type 4" EXACT [DOID:0080095, MONDORULE:1]
synonym: "myopathy, myofibrillar, 4" RELATED [MONDO:Lexical, OMIM:609452]
synonym: "myopathy, myofibrillar, 4; MFM4" RELATED [OMIM:609452]
synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1, OMIM:609452]
synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912]
synonym: "zaspopathy" EXACT [DOID:0080095]
xref: DOID:0080095 {source="MONDO:equivalentTo"}
xref: GARD:0001886 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.8 {source="ORDO:98912/attributed", source="ORDO:98912/ntbt", source="Orphanet:98912"}
xref: MESH:C563718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609452 {source="ORDO:98912/e", source="MONDO:equivalentTo", source="Orphanet:98912", source="DOID:0080095"}
xref: Orphanet:98912 {source="MONDO:equivalentTo", source="OMIM:609452"}
xref: UMLS:C1836155 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98912", source="OMIM:609452", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016108 {source="Orphanet:98912"} ! autosomal dominant distal myopathy
is_a: MONDO:0016190 {source="Orphanet:98912"} ! qualitative or quantitative defects of protein ZASP
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy (disease)
property_value: exactMatch DOID:0080095
property_value: exactMatch http://identifiers.org/mesh/C563718
property_value: exactMatch http://identifiers.org/omim/609452
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836155
property_value: exactMatch Orphanet:98912

[Term]
id: MONDO:0012278
name: PSNP2
synonym: "PSNP2" EXACT [MONDO:Lexical, OMIM:609454]
synonym: "supranuclear palsy, progressive, 2" RELATED [MONDO:Lexical, OMIM:609454]
synonym: "supranuclear palsy, progressive, 2; PSNP2" RELATED [OMIM:609454]
xref: MESH:C563717 {source="MONDO:equivalentTo"}
xref: OMIM:609454 {source="MONDO:equivalentTo"}
xref: UMLS:C1836148 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609454"}
is_a: MONDO:0010997 {source="ORDO:240071/btnt"} ! classic progressive supranuclear palsy syndrome
property_value: exactMatch http://identifiers.org/mesh/C563717
property_value: exactMatch http://identifiers.org/omim/609454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836148

[Term]
id: MONDO:0012279
name: congenital muscular dystrophy merosin-positive
def: "The congenital muscle dystrophies are currently classified according to the genetic defects . Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities ( Fukuyama CMD , muscle-eye-brain disease and Walker-Warburg syndrome ). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene ( SEPN1 ) CMD with hyperextensible distal joints ( Ullrich type ) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans." [https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive]
subset: gard_rare {source="GARD:0003855"}
synonym: "muscular dystrophy, congenital, merosin-POSITIVE" RELATED [OMIM:609456]
xref: DOID:0110638 {source="MONDO:equivalentTo"}
xref: GARD:0003855 {source="MONDO:equivalentTo"}
xref: MESH:C563716 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609456 {source="MONDO:equivalentTo", source="DOID:0110638"}
xref: UMLS:C1836133 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609456"}
is_a: MONDO:0019950 {source="DOID:0110638", source="MONDOLEX:0012279"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0110638
property_value: exactMatch http://identifiers.org/mesh/C563716
property_value: exactMatch http://identifiers.org/omim/609456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836133
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive xsd:anyURI {source="GARD:0003855"}

[Term]
id: MONDO:0012280
name: Goldberg-Shprintzen megacolon syndrome
def: "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." [Orphanet:66629]
subset: ordo_malformation_syndrome {source="Orphanet:66629"}
synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [DOID:0060481, OMIM:609460]
synonym: "Goldberg-Shprintzen syndrome" RELATED [MONDO:Lexical, OMIM:609460]
synonym: "Goldberg-Shprintzen syndrome; GOSHS" RELATED [OMIM:609460]
synonym: "GOSHS" EXACT [MONDO:Lexical, OMIM:609460, Orphanet:66629]
synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629]
xref: DOID:0060481 {source="MONDO:equivalentTo"}
xref: GARD:0009849 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:66629/attributed", source="ORDO:66629/ntbt", source="Orphanet:66629"}
xref: MESH:C537279 {source="MONDO:equivalentTo", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"}
xref: OMIM:609460 {source="MONDO:equivalentTo", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"}
xref: Orphanet:66629 {source="MONDO:equivalentTo", source="OMIM:609460", source="DOID:0060481"}
xref: SCTID:717822006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C1836123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609460", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015246 {source="Orphanet:66629"} ! syndromic anorectal malformation
is_a: MONDO:0015335 {source="Orphanet:66629"} ! orofacial clefting syndrome
is_a: MONDO:0020169 {source="Orphanet:66629"} ! rare disorder with ptosis
is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease
property_value: exactMatch DOID:0060481
property_value: exactMatch http://identifiers.org/mesh/C537279
property_value: exactMatch http://identifiers.org/omim/609460
property_value: exactMatch http://identifiers.org/snomedct/717822006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836123
property_value: exactMatch Orphanet:66629

[Term]
id: MONDO:0012281
name: sarcoidosis, early-onset
synonym: "Early-onset sarcoidosis" EXACT [Orphanet:90341]
synonym: "Eos" RELATED [OMIM:609464]
synonym: "moved to 186580" RELATED [OMIM:609464]
synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464]
xref: OMIM:609464 {source="MONDO:equivalentTo"}
xref: Orphanet:90341 {source="MONDO:equivalentTo", source="OMIM:609464"}
xref: UMLS:C1836122 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609464"}
is_a: MONDO:0019338 {source="DC-OMIM:609464"} ! sarcoidosis
property_value: exactMatch http://identifiers.org/omim/609464
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836122
property_value: exactMatch Orphanet:90341

[Term]
id: MONDO:0012282
name: Al-Gazali syndrome
def: "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." [https://orcid.org/0000-0001-5208-3432, PMID:10319196]
subset: gard_rare {source="GARD:0010054"}
subset: ordo_malformation_syndrome
synonym: "Al Gazali Al Talabani syndrome" RELATED [GARD:0010054]
synonym: "Al Gazali syndrome" RELATED [GARD:0010054]
synonym: "Al-Gazali syndrome" EXACT [OMIM:609465]
synonym: "eye defects arachnodactyly cardiopathy" RELATED [GARD:0010054]
xref: GARD:0010054 {source="MONDO:equivalentTo"}
xref: MESH:C536817 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609465 {source="MONDO:equivalentTo", source="Orphanet:2725"}
xref: Orphanet:2725 {source="MONDO:equivalentTo", source="OMIM:609465"}
xref: UMLS:C1836121 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609465"}
is_a: MONDO:0019715 {source="Orphanet:2725"} ! syndrome with synostosis or other joint formation defect
is_a: MONDO:0020225 {source="Orphanet:2725"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C536817
property_value: exactMatch http://identifiers.org/omim/609465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836121
property_value: exactMatch Orphanet:2725
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome xsd:anyURI {source="GARD:0010054"}

[Term]
id: MONDO:0012283
name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
subset: gard_rare {source="GARD:0010063"}
synonym: "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" EXACT [OMIM:609466]
xref: GARD:0010063 {source="MONDO:equivalentTo"}
xref: MESH:C536427 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609466 {source="MONDO:equivalentTo"}
xref: UMLS:C1836120 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609466"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536427
property_value: exactMatch http://identifiers.org/omim/609466
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss xsd:anyURI {source="GARD:0010063"}

[Term]
id: MONDO:0012284
name: nephropathy, progressive, with deafness
synonym: "Alport/focal segmental glomerulosclerosis-like syndrome" RELATED [OMIM:609469]
synonym: "Nede" RELATED [OMIM:609469]
synonym: "nephropathy, progressive, with deafness" EXACT [OMIM:609469]
xref: MESH:C563713 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609469 {source="MONDO:equivalentTo"}
xref: UMLS:C1836119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609469"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563713
property_value: exactMatch http://identifiers.org/omim/609469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836119

[Term]
id: MONDO:0012285
name: LVNC2
synonym: "left ventricular noncompaction 2" RELATED [MONDO:Lexical, OMIM:609470]
synonym: "left ventricular noncompaction 2; LVNC2" RELATED [OMIM:609470]
synonym: "LVNC2" EXACT [MONDO:Lexical, OMIM:609470]
xref: OMIM:609470 {source="MONDO:equivalentTo"}
xref: UMLS:C1836118 {source="OMIM:609470", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018901 {source="DC-OMIM:609470", source="MONDOLEX:0012285", source="OMIM:609470"} ! left ventricular noncompaction (disease)
property_value: exactMatch http://identifiers.org/omim/609470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836118

[Term]
id: MONDO:0012286
name: myopathy, autophagic vacuolar, infantile-onset
synonym: "myopathy, autophagic vacuolar, infantile-onset" EXACT [OMIM:609500]
xref: OMIM:609500 {source="MONDO:equivalentTo"}
is_a: MONDO:0010684 ! X-linked myopathy with excessive autophagy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836100
property_value: exactMatch http://identifiers.org/omim/609500

[Term]
id: MONDO:0012287
name: Stickler syndrome, type I, nonsyndromic ocular
comment: Editor note: check this
synonym: "rhegmatogenous retinal detachment, autosomal dominant" RELATED [OMIM:609508]
synonym: "Stickler syndrome, atypical" RELATED [OMIM:609508]
synonym: "Stickler syndrome, type i, nonsyndromic ocular" EXACT [OMIM:609508]
synonym: "Stickler syndrome, type I, predominantly ocular" RELATED [OMIM:609508]
xref: OMIM:609508 {source="MONDO:equivalentTo"}
xref: UMLS:C1836080 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609508", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007160 {source="MONDOLEX:0012287", source="ORDO:90653/btnt"} ! Stickler syndrome type 1
property_value: exactMatch http://identifiers.org/omim/609508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836080

[Term]
id: MONDO:0012288
name: iridogoniodysgenesis and skeletal anomalies
subset: gard_rare {source="GARD:0010058"}
synonym: "iridogoniodysgenesis and skeletal anomalies" EXACT [OMIM:609515]
xref: GARD:0010058 {source="MONDO:equivalentTo"}
xref: MESH:C535534 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609515 {source="MONDO:equivalentTo"}
xref: UMLS:C1836074 {source="OMIM:609515", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0011119 {source="MONDO:cjm"} ! iridogoniodysgenesis
property_value: exactMatch http://identifiers.org/mesh/C535534
property_value: exactMatch http://identifiers.org/omim/609515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836074
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies xsd:anyURI {source="GARD:0010058"}

[Term]
id: MONDO:0012289
name: myofibrillar myopathy 5
def: "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." [Orphanet:171445]
subset: ordo_disease {source="Orphanet:171445"}
synonym: "filaminopathy" EXACT [DOID:0080096]
synonym: "filaminopathy, autosomal dominant" RELATED [OMIM:609524]
synonym: "FLNC myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM5" RELATED [MONDO:Lexical, OMIM:609524]
synonym: "muscle filaminopathy" RELATED [Orphanet:171445]
synonym: "myofibrillar myopathy (disease) caused by mutation in FLNC" EXACT []
synonym: "myofibrillar myopathy type 5" EXACT [DOID:0080096, MONDORULE:1]
synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524]
synonym: "myopathy, myofibrillar, 5; MFM5" RELATED [OMIM:609524]
synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524]
synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524]
xref: DOID:0080096 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="ORDO:171445/attributed", source="ORDO:171445/ntbt", source="Orphanet:171445"}
xref: MESH:C537932 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609524 {source="DOID:0080096", source="MONDO:equivalentTo", source="ORDO:171445/e", source="Orphanet:171445"}
xref: Orphanet:171445 {source="MONDO:equivalentTo", source="OMIM:609524"}
is_a: MONDO:0016189 {source="Orphanet:171445"} ! qualitative or quantitative defects of filamin C
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609524", source="Orphanet:171445"} ! myofibrillar myopathy (disease)
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836050
property_value: exactMatch DOID:0080096
property_value: exactMatch http://identifiers.org/mesh/C537932
property_value: exactMatch http://identifiers.org/omim/609524
property_value: exactMatch Orphanet:171445

[Term]
id: MONDO:0012290
name: CEDNIK syndrome
def: "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." [Orphanet:66631]
subset: ordo_disease {source="Orphanet:66631"}
synonym: "CEDNIK syndrome" EXACT [OMIM:609528]
synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337, OMIM:609528]
synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [OMIM:609528]
synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631]
xref: DOID:0060337 {source="MONDO:equivalentTo"}
xref: GARD:0009940 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:66631", source="ORDO:66631/attributed", source="ORDO:66631/ntbt"}
xref: MESH:C537943 {source="MONDO:equivalentTo", source="DOID:0060337", source="MONDO:ontobio"}
xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="DOID:0060337", source="ORDO:66631/e"}
xref: Orphanet:66631 {source="OMIM:609528", source="MONDO:equivalentTo", source="DOID:0060337"}
xref: SCTID:722385008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1836033 {source="Orphanet:66631", source="OMIM:609528", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060337"}
is_a: MONDO:0000508 {source="Orphanet:66631"} ! syndromic intellectual disability
is_a: MONDO:0017273 {source="Orphanet:66631"} ! autosomal ichthyosis syndrome with fatal disease course
is_a: MONDO:0017666 {source="Orphanet:66631-generalized-by-cjm", source="Orphanet:66631/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49", source="linkedlifedata"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060337
property_value: exactMatch http://identifiers.org/mesh/C537943
property_value: exactMatch http://identifiers.org/omim/609528
property_value: exactMatch http://identifiers.org/snomedct/722385008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836033
property_value: exactMatch Orphanet:66631

[Term]
id: MONDO:0012291
name: immunoglobulin A deficiency 2
def: "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010198"}
synonym: "IgA, selective deficiency of, TACI related" RELATED [GARD:0010198]
synonym: "IgA, selective deficiency of, TACI-related" RELATED [OMIM:609529]
synonym: "IGAD2" RELATED [MONDO:Lexical, OMIM:609529]
synonym: "immunoglobulin a deficiency 2" EXACT [MONDO:Lexical, OMIM:609529]
synonym: "IMMUNOGLOBULIN A deficiency 2; IGAD2" RELATED [OMIM:609529]
synonym: "Immunoglobulin a deficiency type 2" EXACT [MONDORULE:1, OMIM:609529]
synonym: "Immunoglobulin A, selective deficiency of, TACI related" RELATED [GARD:0010198]
synonym: "Immunoglobulin A, selective deficiency of, TACI-related" RELATED [OMIM:609529]
synonym: "selective IgA deficiency disease caused by mutation in TNFRSF13B" EXACT [MONDO:design_pattern]
synonym: "TNFRSF13B selective IgA deficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010198 {source="MONDO:equivalentTo"}
xref: MESH:C536291 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609529 {source="MONDO:equivalentTo"}
xref: UMLS:C1836032 {source="NCBI:mim2gene_medline", source="OMIM:609529", source="MONDO:equivalentTo"}
is_a: MONDO:0001341 {source="DC-OMIM:609529", source="MESH:C536291", source="MONDO:Redundant"} ! selective IgA deficiency disease
property_value: closeMatch Orphanet:69127
property_value: exactMatch http://identifiers.org/mesh/C536291
property_value: exactMatch http://identifiers.org/omim/609529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2 xsd:anyURI {source="GARD:0010198"}

[Term]
id: MONDO:0012292
name: hepatitis c virus, susceptibility to
subset: predisposition
synonym: "HCV, resistance to" RELATED [OMIM:609532]
synonym: "HCV, susceptibility to" RELATED [OMIM:609532]
synonym: "Hepatitis C Virus infection, response to therapy of" RELATED [OMIM:609532]
synonym: "Hepatitis C Virus, resistance to" RELATED [OMIM:609532]
synonym: "hepatitis c virus, susceptibility to" EXACT [OMIM:609532]
xref: OMIM:609532 {source="MONDO:equivalentTo"}
xref: UMLS:C2750389 {source="MONDO:equivalentTo", source="OMIM:609532"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835407
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836031
property_value: closeMatch Orphanet:284102
property_value: exactMatch http://identifiers.org/omim/609532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750389

[Term]
id: MONDO:0012293
name: autosomal recessive nonsyndromic deafness 23
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 23" EXACT [DOID:0110481]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 23" EXACT [DOID:0110481, MONDORULE:2]
synonym: "deafness, autosomal recessive 23" RELATED [MONDO:Lexical, OMIM:609533]
synonym: "deafness, autosomal recessive 23; DFNB23" RELATED [OMIM:609533]
synonym: "deafness, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:609533]
synonym: "DFNB23" EXACT [DOID:0110481, MONDO:Lexical, OMIM:609533]
synonym: "PCDH15 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110481 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110481"}
xref: MESH:C563705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609533 {source="MONDO:equivalentTo", source="DOID:0110481"}
xref: UMLS:C1836027 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609533"}
is_a: MONDO:0019588 {source="DC-OMIM:609533", source="DOID:0110481", source="MONDO:Redundant", source="OMIM:609533"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110481
property_value: exactMatch http://identifiers.org/mesh/C563705
property_value: exactMatch http://identifiers.org/omim/609533
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836027

[Term]
id: MONDO:0012294
name: obsolete drug metabolism, poor, Cyp2C19-related
synonym: "clopidogrel, poor metabolism of" RELATED [OMIM:609535]
synonym: "drug metabolism, poor, Cyp2C19-related" EXACT [OMIM:609535]
synonym: "Mephenytoin, poor metabolism of" RELATED [OMIM:609535]
synonym: "Omeprazole, poor metabolism of" RELATED [OMIM:609535]
synonym: "Opremazole, poor metabolism of" RELATED [OMIM:609535]
synonym: "Proguanil, poor metabolism of" RELATED [OMIM:609535]
xref: GARD:0012906 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:609535 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1836023 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:609535"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836024
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836025
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836026
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674941
property_value: closeMatch Orphanet:240935
property_value: exactMatch http://identifiers.org/omim/609535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836023
is_obsolete: true

[Term]
id: MONDO:0012295
name: complement component 5 deficiency
def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." [NCIT:P378]
synonym: "C5 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C5 deficiency" EXACT [DOID:8158, OMIM:609536]
synonym: "C5D" RELATED [MONDO:Lexical, OMIM:609536]
synonym: "complement component 5 deficiency" EXACT [MONDO:Lexical, OMIM:609536]
synonym: "complement component 5 deficiency; C5D" RELATED [OMIM:609536]
synonym: "complement deficiency caused by mutation in C5" EXACT [MONDO:design_pattern]
synonym: "dysfunction of the fifth component of complement (C5)" RELATED [GARD:0006878]
xref: DOID:8158 {source="MONDO:equivalentTo"}
xref: GARD:0006878 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C9469 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8158"}
xref: OMIM:609536 {source="MONDO:equivalentTo", source="DOID:8158"}
xref: UMLS:C0343047 {source="OMIM:609536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C9469"}
is_a: MONDO:0000015 {source="DC-OMIM:609536"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: exactMatch DOID:8158
property_value: exactMatch http://identifiers.org/omim/609536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343047
property_value: exactMatch NCIT:C9469

[Term]
id: MONDO:0012296
name: lipomyelomeningocele
def: "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." [Orphanet:268835]
subset: gard_rare {source="GARD:0010053"}
subset: ordo_morphological_anomaly {source="Orphanet:268835"}
synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053]
synonym: "lipomyelomeningocele" EXACT [OMIM:609537]
xref: GARD:0010053 {source="MONDO:equivalentTo"}
xref: ICD10:Q05.9 {source="ORDO:268835/attributed", source="ORDO:268835/ntbt", source="Orphanet:268835"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537030 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609537 {source="MONDO:equivalentTo"}
xref: Orphanet:268835 {source="MONDO:equivalentTo"}
xref: SCTID:104431000119107 {source="MONDO:kboom-pr-1.00/0.84/14.98", source="MONDO:equivalentTo"}
xref: UMLS:C1836022 {source="OMIM:609537", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:268835/e", source="Orphanet:268835"}
is_a: MONDO:0017083 {source="Orphanet:268835"} ! lipoma associated with neurospinal dysraphism
property_value: exactMatch http://identifiers.org/mesh/C537030
property_value: exactMatch http://identifiers.org/omim/609537
property_value: exactMatch http://identifiers.org/snomedct/104431000119107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836022
property_value: exactMatch Orphanet:268835
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele xsd:anyURI {source="GARD:0010053"}

[Term]
id: MONDO:0012297
name: SPOAN syndrome
def: "gene (11q13.1), encoding kinesin light chain 2." [Orphanet:320406]
subset: ordo_disease {source="Orphanet:320406"}
synonym: "spastic paraplegia, optic atrophy, and neuropathy" RELATED [MONDO:Lexical, OMIM:609541]
synonym: "spastic paraplegia, optic atrophy, and neuropathy; SPOAN" RELATED [OMIM:609541]
synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [DOID:0060491]
synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID:0060491]
synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" RELATED [Orphanet:320406]
synonym: "SPOAN" EXACT [MONDO:Lexical, OMIM:609541, Orphanet:320406]
xref: DOID:0060491 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320406/attributed", source="ORDO:320406/ntbt", source="Orphanet:320406", source="DOID:0060491"}
xref: MESH:C563702 {source="MONDO:equivalentTo", source="DOID:0060491"}
xref: OMIM:609541 {source="MONDO:equivalentTo", source="Orphanet:320406", source="ORDO:320406/e", source="DOID:0060491"}
xref: Orphanet:320406 {source="MONDO:equivalentTo", source="OMIM:609541", source="DOID:0060491"}
xref: UMLS:C1836010 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:320406", source="OMIM:609541"}
is_a: MONDO:0018550 {source="Orphanet:320406"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
property_value: exactMatch DOID:0060491
property_value: exactMatch http://identifiers.org/mesh/C563702
property_value: exactMatch http://identifiers.org/omim/609541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836010
property_value: exactMatch Orphanet:320406

[Term]
id: MONDO:0012298
name: omphalocele, diaphragmatic hernia, and radial ray defects
synonym: "Gershoni-Baruch syndrome" RELATED [OMIM:609545]
synonym: "omphalocele, diaphragmatic hernia, and radial ray defects" EXACT [OMIM:609545]
xref: GARD:0010354 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609545 {source="MONDO:equivalentTo"}
xref: UMLS:C1836007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609545"}
is_a: MONDO:0003847 {source="MESH:C563701/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563701
property_value: exactMatch http://identifiers.org/omim/609545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836007

[Term]
id: MONDO:0012299
name: nanophthalmos 2
def: "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MFRP nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Nanophthalmia 2" RELATED [OMIM:609549]
synonym: "nanophthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern]
synonym: "nanophthalmos 2" EXACT [MONDO:Lexical, OMIM:609549]
synonym: "nanophthalmos 2; NNO2" RELATED [OMIM:609549]
synonym: "nanophthalmos type 2" EXACT [MONDORULE:1, OMIM:609549]
synonym: "nanophthalmos, autosomal recessive" RELATED [OMIM:609549]
synonym: "NNO2" RELATED [MONDO:Lexical, OMIM:609549]
xref: MESH:C563700 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609549 {source="MONDO:equivalentTo"}
xref: UMLS:C1836006 {source="OMIM:609549", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant"} ! nanophthalmia
is_a: MONDO:0012605 ! isolated microphthalmia 5
property_value: exactMatch http://identifiers.org/mesh/C563700
property_value: exactMatch http://identifiers.org/omim/609549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836006

[Term]
id: MONDO:0012300
name: prostate cancer, hereditary, 6
synonym: "HPC6" RELATED [OMIM:609558]
synonym: "prostate cancer, hereditary, 6" EXACT [OMIM:609558]
synonym: "prostate cancer, hereditary, type 6" EXACT [MONDORULE:1, OMIM:609558]
xref: MESH:C563699 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609558 {source="MONDO:equivalentTo"}
xref: UMLS:C1836005 {source="OMIM:609558", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDOLEX:0012300"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C563699
property_value: exactMatch http://identifiers.org/omim/609558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836005

[Term]
id: MONDO:0012301
name: mitochondrial DNA depletion syndrome, myopathic form
def: "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." [Orphanet:254875]
subset: ordo_disease {source="Orphanet:254875"}
synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [OMIM:609560]
synonym: "mitochondrial DNA depletion syndrome 2" RELATED [DOID:0080120]
synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" RELATED [MONDO:Lexical, OMIM:609560]
synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type); MTDPS2" RELATED [OMIM:609560]
synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MONDORULE:1]
synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875]
synonym: "MTDPS2" RELATED [MONDO:Lexical, OMIM:609560]
xref: DOID:0080120 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:254875/attributed", source="ORDO:254875/ntbt", source="Orphanet:254875"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563698 {source="MONDO:equivalentTo"}
xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="ORDO:254875/e"}
xref: Orphanet:254875 {source="MONDO:equivalentTo", source="OMIM:609560"}
xref: SCTID:703527003 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C3501891 {source="MONDO:equivalentTo", source="Orphanet:254875"}
is_a: MONDO:0018158 {source="DC-OMIM:609560", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0019238 {source="Orphanet:254875"} ! inborn disorder of pyrimidine metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149750
property_value: exactMatch DOID:0080120
property_value: exactMatch http://identifiers.org/mesh/C563698
property_value: exactMatch http://identifiers.org/omim/609560
property_value: exactMatch http://identifiers.org/snomedct/703527003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501891
property_value: exactMatch Orphanet:254875

[Term]
id: MONDO:0012302
name: PFM3
synonym: "parietal foramina 3" RELATED [MONDO:Lexical, OMIM:609566]
synonym: "parietal foramina 3; PFM3" RELATED [OMIM:609566]
synonym: "PFM3" EXACT [MONDO:Lexical, OMIM:609566]
xref: MESH:C563697 {source="MONDO:equivalentTo"}
xref: OMIM:609566 {source="MONDO:equivalentTo"}
xref: UMLS:C1835980 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609566"}
is_a: MONDO:0018953 {source="DC-OMIM:609566", source="OMIM:609566"} ! parietal foramina
property_value: exactMatch http://identifiers.org/mesh/C563697
property_value: exactMatch http://identifiers.org/omim/609566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835980

[Term]
id: MONDO:0012303
name: migraine with or without aura, susceptibility to, 8
subset: predisposition
synonym: "Mgr8" RELATED [OMIM:609570]
synonym: "migraine with or without aura, susceptibility to, 8" EXACT [OMIM:609570]
synonym: "migraine with or without aura, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:609570]
xref: OMIM:609570 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:609570", source="OMIM:609570/inferred"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835968
property_value: exactMatch http://identifiers.org/omim/609570

[Term]
id: MONDO:0012304
name: PPR2
synonym: "photoparoxysmal response 2" RELATED [MONDO:Lexical, OMIM:609572]
synonym: "photoparoxysmal response 2; PPR2" RELATED [OMIM:609572]
synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [OMIM:609572]
synonym: "PPR2" EXACT [MONDO:Lexical, OMIM:609572]
xref: OMIM:609572 {source="MONDO:equivalentTo"}
xref: UMLS:C1835967 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609572"}
is_a: MONDO:0015643 {source="DC-OMIM:609572", source="OMIM:609572"} ! photosensitive epilepsy
property_value: exactMatch http://identifiers.org/omim/609572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835967

[Term]
id: MONDO:0012305
name: PPR3
synonym: "photoparoxysmal response 3" RELATED [MONDO:Lexical, OMIM:609573]
synonym: "photoparoxysmal response 3; PPR3" RELATED [OMIM:609573]
synonym: "photoparoxysmal response with or without myoclonic epilepsy" RELATED [OMIM:609573]
synonym: "PPR3" EXACT [MONDO:Lexical, OMIM:609573]
xref: MESH:C563695 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609573 {source="MONDO:equivalentTo"}
xref: UMLS:C1835966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609573"}
is_a: MONDO:0015643 {source="DC-OMIM:609573", source="OMIM:609573"} ! photosensitive epilepsy
property_value: exactMatch http://identifiers.org/mesh/C563695
property_value: exactMatch http://identifiers.org/omim/609573
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835966

[Term]
id: MONDO:0012306
name: cardiomyopathy, familial restrictive, 2
synonym: "cardiomyopathy, familial restrictive, 2" EXACT [MONDO:Lexical, OMIM:609578]
synonym: "cardiomyopathy, familial restrictive, 2; RCM2" RELATED [OMIM:609578]
synonym: "RCM2" RELATED [MONDO:Lexical, OMIM:609578]
xref: MESH:C566512 {source="MONDO:equivalentTo"}
xref: OMIM:609578 {source="MONDO:equivalentTo"}
xref: UMLS:C1865071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609578"}
is_a: MONDO:0019150 {source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C566512
property_value: exactMatch http://identifiers.org/omim/609578
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865071

[Term]
id: MONDO:0012307
name: familial scaphocephaly syndrome, McGillivray type
def: "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." [Orphanet:168624]
subset: ordo_malformation_syndrome {source="Orphanet:168624"}
synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED [OMIM:609579]
synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624]
xref: ICD10:Q87.0 {source="ORDO:168624/attributed", source="ORDO:168624/ntbt", source="Orphanet:168624"}
xref: MESH:C566511 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="ORDO:168624/e"}
xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"}
xref: UMLS:C1865070 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168624", source="MEDGEN:kboom-pr92-c96", source="OMIM:609579"}
is_a: MONDO:0015704 {source="Orphanet:168624"} ! familial scaphocephaly syndrome
property_value: exactMatch http://identifiers.org/mesh/C566511
property_value: exactMatch http://identifiers.org/omim/609579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865070
property_value: exactMatch Orphanet:168624

[Term]
id: MONDO:0012308
name: Joubert syndrome with renal defect
def: "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." [Orphanet:220497]
subset: gard_rare
subset: ordo_disease {source="Orphanet:220497"}
synonym: "JBTS4" EXACT [DOID:0110999, GARD:0010169, MONDO:Lexical, OMIM:609583]
synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical, OMIM:609583]
synonym: "Joubert syndrome 4; JBTS4" RELATED [OMIM:609583]
synonym: "Joubert syndrome type 4" EXACT [DOID:0110999, MONDORULE:1, OMIM:609583]
synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169]
synonym: "JS-R" EXACT [Orphanet:220497]
xref: DOID:0110999 {source="MONDO:equivalentTo"}
xref: GARD:0010169 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:220497", source="ORDO:220497/attributed", source="ORDO:220497/ntbt"}
xref: ICD10:Q61.5 {source="Orphanet:220497", source="ORDO:220497/attributed", source="ORDO:220497/ntbt"}
xref: MESH:C536296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C74997 {source="MONDO:kboom-pr-1.00/0.91/28.36", source="MONDO:equivalentTo"}
xref: OMIM:609583 {source="ORDO:220497/e", source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169"}
xref: Orphanet:220497 {source="MONDO:equivalentTo", source="OMIM:609583"}
xref: SCTID:716999001 {source="MONDO:equivalentTo"}
is_a: MONDO:0017118 {source="MONDO:Redundant", source="Orphanet:220497", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCIT:C74997", source="OMIM:609583", source="linkedlifedata"} ! Joubert syndrome
is_a: MONDO:0019741 {source="Orphanet:220497"} ! familial cystic renal disease
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846790
property_value: exactMatch DOID:0110999
property_value: exactMatch http://identifiers.org/mesh/C536296
property_value: exactMatch http://identifiers.org/omim/609583
property_value: exactMatch http://identifiers.org/snomedct/716999001
property_value: exactMatch NCIT:C74997
property_value: exactMatch Orphanet:220497
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies xsd:anyURI {source="GARD:0010169"}

[Term]
id: MONDO:0012309
name: parietal foramina 2
def: "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALX4 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "parietal foramina 2" EXACT [MONDO:Lexical, OMIM:609597]
synonym: "parietal foramina 2; PFM2" RELATED [OMIM:609597]
synonym: "parietal foramina caused by mutation in ALX4" EXACT [MONDO:design_pattern]
synonym: "parietal foramina type 2" EXACT [MONDORULE:1, OMIM:609597]
synonym: "PFM2" RELATED [MONDO:Lexical, OMIM:609597]
xref: MESH:C566510 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609597 {source="MONDO:equivalentTo"}
xref: UMLS:C1865044 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609597"}
is_a: MONDO:0018953 {source="DC-OMIM:609597", source="MONDO:Redundant", source="OMIM:609597"} ! parietal foramina
property_value: exactMatch http://identifiers.org/mesh/C566510
property_value: exactMatch http://identifiers.org/omim/609597
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865044

[Term]
id: MONDO:0012310
name: fibrosis of extraocular muscles, congenital, with synergistic divergence
synonym: "congenital fibrosis syndrome with synergistic divergence" RELATED [OMIM:609612]
synonym: "external ophthalmoplegia with synergistic divergence" RELATED [OMIM:609612]
synonym: "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation" RELATED [OMIM:609612]
synonym: "fibrosis of extraocular muscles, congenital, with synergistic divergence" EXACT [OMIM:609612]
xref: OMIM:609612 {source="MONDO:equivalentTo"}
xref: UMLS:C1865040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609612"}
is_a: MONDO:0007614 {source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865041
property_value: exactMatch http://identifiers.org/omim/609612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865040

[Term]
id: MONDO:0012311
name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
synonym: "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" EXACT [OMIM:609616]
xref: MESH:C566507 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609616 {source="MONDO:equivalentTo"}
xref: UMLS:C1865022 {source="OMIM:609616", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566507/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566507
property_value: exactMatch http://identifiers.org/omim/609616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865022

[Term]
id: MONDO:0012312
name: short QT syndrome type 1
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNH2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 1" RELATED [MONDO:Lexical, OMIM:609620]
synonym: "short QT syndrome 1; SQT1" RELATED [OMIM:609620]
synonym: "short QT syndrome caused by mutation in KCNH2" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 1" EXACT [MONDORULE:1, OMIM:609620]
synonym: "SQT1" RELATED [MONDO:Lexical, OMIM:609620]
synonym: "SQTS" EXACT [Orphanet:51083]
xref: MESH:C566506 {source="MONDO:equivalentTo"}
xref: OMIM:609620 {source="MONDO:equivalentTo", source="Orphanet:51083"}
xref: UMLS:C1865020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609620"}
is_a: MONDO:0000453 {source="DC-OMIM:609620", source="MONDO:Redundant", source="OMIM:609620"} ! short QT syndrome
is_a: MONDO:0015110 {source="Orphanet:51083"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/mesh/C566506
property_value: exactMatch http://identifiers.org/omim/609620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865020

[Term]
id: MONDO:0012313
name: short QT syndrome type 2
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNQ1 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 2" RELATED [MONDO:Lexical, OMIM:609621]
synonym: "short QT syndrome 2; SQT2" RELATED [OMIM:609621]
synonym: "short QT syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 2" EXACT [MONDORULE:1, OMIM:609621]
synonym: "SQT2" RELATED [MONDO:Lexical, OMIM:609621]
xref: MESH:C566505 {source="MONDO:equivalentTo"}
xref: OMIM:609621 {source="MONDO:equivalentTo"}
xref: UMLS:C1865019 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609621"}
is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609621"} ! short QT syndrome
property_value: exactMatch http://identifiers.org/mesh/C566505
property_value: exactMatch http://identifiers.org/omim/609621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865019

[Term]
id: MONDO:0012314
name: short QT syndrome type 3
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNJ2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 3" RELATED [MONDO:Lexical, OMIM:609622]
synonym: "short QT syndrome 3; SQT3" RELATED [OMIM:609622]
synonym: "short QT syndrome caused by mutation in KCNJ2" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 3" EXACT [MONDORULE:1, OMIM:609622]
synonym: "SQT3" RELATED [MONDO:Lexical, OMIM:609622]
xref: MESH:C566504 {source="MONDO:equivalentTo"}
xref: OMIM:609622 {source="MONDO:equivalentTo"}
xref: UMLS:C1865018 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609622"}
is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609622"} ! short QT syndrome
property_value: exactMatch http://identifiers.org/mesh/C566504
property_value: exactMatch http://identifiers.org/omim/609622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865018

[Term]
id: MONDO:0012315
name: distal 10q deletion syndrome
def: "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." [Orphanet:96148]
subset: ordo_malformation_syndrome {source="Orphanet:96148"}
synonym: "10q deletion" RELATED [GARD:0003711]
synonym: "10q monosomy" RELATED [GARD:0003711]
synonym: "chromosome 10q deletion" RELATED [GARD:0003711]
synonym: "chromosome 10q26 deletion syndrome" EXACT [DOID:0060390, OMIM:609625]
synonym: "deletion 10q" RELATED [GARD:0003711]
synonym: "distal deletion 10q" EXACT [Orphanet:96148]
synonym: "distal monosomy 10q" EXACT [DOID:0060390]
synonym: "distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:96148]
synonym: "monosomy 10q" RELATED [GARD:0003711]
synonym: "monosomy 10qter" EXACT [DOID:0060390, Orphanet:96148]
synonym: "partial monosomy 10q" RELATED [GARD:0003711]
synonym: "telomeric deletion 10q" EXACT [DOID:0060390, Orphanet:96148]
synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625]
synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390]
xref: DOID:0060390 {source="MONDO:equivalentTo"}
xref: GARD:0003711 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="Orphanet:96148", source="DOID:0060390", source="ORDO:96148/attributed", source="ORDO:96148/ntbt"}
xref: MESH:C567182 {source="MONDO:equivalentTo", source="DOID:0060390", source="MONDO:ontobio"}
xref: OMIM:609625 {source="ORDO:96148/e", source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390"}
xref: Orphanet:96148 {source="OMIM:609625", source="MONDO:equivalentTo", source="DOID:0060390"}
xref: SCTID:718687003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2674937 {source="OMIM:609625", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:96148", source="MONDO:equivalentTo"}
xref: UMLS:C4305277 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:609625", source="DOID:0060390"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016909 {source="Orphanet:96148"} ! partial monosomy of the long arm of chromosome 10
property_value: exactMatch DOID:0060390
property_value: exactMatch http://identifiers.org/mesh/C567182
property_value: exactMatch http://identifiers.org/omim/609625
property_value: exactMatch http://identifiers.org/snomedct/718687003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674937
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305277
property_value: exactMatch Orphanet:96148

[Term]
id: MONDO:0012316
name: Majeed syndrome
def: "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." [Orphanet:77297]
subset: gard_rare {source="GARD:0010088"}
subset: ordo_disease {source="Orphanet:77297"}
synonym: "CDA and CRMO" RELATED [GARD:0010088]
synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088]
synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [OMIM:609628]
synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [Orphanet:77297]
synonym: "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" RELATED [GARD:0010088]
synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0010088]
synonym: "Majeed syndrome" EXACT [OMIM:609628]
synonym: "MAJEED syndrome; MJDS" RELATED [OMIM:609628]
synonym: "MJDS" RELATED [OMIM:609628]
xref: GARD:0010088 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10072223 {source="ORDO:77297/e", source="Orphanet:77297"}
xref: MESH:C537839 {source="MONDO:equivalentTo", source="ORDO:77297/e", source="MONDO:ontobio", source="Orphanet:77297"}
xref: NCIT:C119058 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:609628 {source="MONDO:equivalentTo", source="ORDO:77297/e", source="Orphanet:77297"}
xref: Orphanet:77297 {source="OMIM:609628", source="MONDO:equivalentTo"}
xref: SCTID:703540008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.39"}
xref: UMLS:C1864997 {source="NCIT:C119058", source="NCBI:mim2gene_medline", source="OMIM:609628", source="MONDO:equivalentTo", source="ORDO:77297/e", source="Orphanet:77297"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017369 {source="Orphanet:77297"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:77297"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017397 {source="Orphanet:77297"} ! constitutional dyserythropoietic anemia
is_a: MONDO:0017954 {source="Orphanet:77297"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/meddra/10072223
property_value: exactMatch http://identifiers.org/mesh/C537839
property_value: exactMatch http://identifiers.org/omim/609628
property_value: exactMatch http://identifiers.org/snomedct/703540008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864997
property_value: exactMatch NCIT:C119058
property_value: exactMatch Orphanet:77297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome xsd:anyURI {source="GARD:0010088"}

[Term]
id: MONDO:0012317
name: visceral neuropathy, familial, autosomal dominant
synonym: "enteric neuropathy, familial" RELATED [OMIM:609629]
synonym: "pseudoobstruction, chronic intestinal, neuropathic" RELATED [OMIM:609629]
synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:609629]
synonym: "visceral neuropathy, familial, autosomal dominant" EXACT [OMIM:609629]
xref: OMIM:609629 {source="MONDO:equivalentTo"}
xref: UMLS:C1864996 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609629", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction
property_value: exactMatch http://identifiers.org/omim/609629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864996

[Term]
id: MONDO:0012318
name: leukemia, chronic lymphocytic, susceptibility to, 1
subset: predisposition
synonym: "Clls1" RELATED [OMIM:609630]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 1" EXACT [OMIM:609630]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:609630]
xref: OMIM:609630 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="MONDO:cjm"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864995
property_value: exactMatch http://identifiers.org/omim/609630

[Term]
id: MONDO:0012319
name: major affective disorder 3
synonym: "bipolar affective disorder, early-onset" RELATED [OMIM:609633]
synonym: "MAFD3" EXACT [MONDO:Lexical, OMIM:609633]
synonym: "major affective disorder 3" RELATED [OMIM:609633]
synonym: "MAJOR affective disorder 3; MAFD3" RELATED [OMIM:609633]
xref: MESH:C566501 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609633 {source="MONDO:equivalentTo"}
xref: UMLS:C1864994 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609633"}
is_a: MONDO:0004985 {source="DC-OMIM:609633", source="MESH:C566501", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C566501
property_value: exactMatch http://identifiers.org/omim/609633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864994

[Term]
id: MONDO:0012320
name: migraine, familial hemiplegic, 3
def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern]
synonym: "FHM3" RELATED [MONDO:Lexical, OMIM:609634]
synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634]
synonym: "migraine, familial hemiplegic, 3; FHM3" RELATED [OMIM:609634]
synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634]
synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010974 {source="MONDO:equivalentTo"}
xref: MESH:C566500 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609634 {source="MONDO:equivalentTo"}
xref: UMLS:C1864987 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609634"}
is_a: MONDO:0018925 {source="MONDO:Redundant", source="ORDO:569/btnt"} ! familial or sporadic hemiplegic migraine
property_value: exactMatch http://identifiers.org/mesh/C566500
property_value: exactMatch http://identifiers.org/omim/609634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864987

[Term]
id: MONDO:0012321
name: Alzheimer disease 10
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." [DOID:0110043, PMID:16175510]
synonym: "AD10" EXACT [DOID:0110043]
synonym: "Ad10" RELATED [OMIM:609636]
synonym: "Alzheimer disease 10" EXACT [DOID:0110043, OMIM:609636]
synonym: "Alzheimer disease familial 10" EXACT [DOID:0110043]
synonym: "Alzheimer disease type 10" EXACT [MONDORULE:2, OMIM:609636]
synonym: "Alzheimer disease, familial, 10" RELATED [OMIM:609636]
synonym: "Alzheimer's disease 10" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 10" EXACT [DOID:0110043, MONDORULE:2]
xref: DOID:0110043 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110043"}
xref: MESH:C566465 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609636 {source="MONDO:equivalentTo", source="DOID:0110043"}
xref: UMLS:C1864828 {source="OMIM:609636", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110043
property_value: exactMatch http://identifiers.org/mesh/C566465
property_value: exactMatch http://identifiers.org/omim/609636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864828

[Term]
id: MONDO:0012322
name: holoprosencephaly 5
def: "Holoprosencephaly associated with mutations in the ZIC2 gene." [NCIT:C75460]
synonym: "holoprosencephaly 5" EXACT [MONDO:Lexical, OMIM:609637]
synonym: "holoprosencephaly 5; HPE5" RELATED [OMIM:609637]
synonym: "holoprosencephaly caused by mutation in ZIC2" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 5" EXACT [DOID:0110878, MONDORULE:1, OMIM:609637]
synonym: "HPE5" EXACT [DOID:0110878, MONDO:Lexical, OMIM:609637]
synonym: "ZIC2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110878 {source="MONDO:equivalentTo"}
xref: MESH:C566464 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C75460 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"}
xref: OMIM:609637 {source="DOID:0110878", source="MONDO:equivalentTo"}
xref: UMLS:C1864827 {source="OMIM:609637", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75460"}
is_a: MONDO:0016355 ! semilobar holoprosencephaly
is_a: MONDO:0017218 ! septopreoptic holoprosencephaly
is_a: MONDO:0017219 ! microform holoprosencephaly
is_a: MONDO:0019756 ! lobar holoprosencephaly
is_a: MONDO:0019757 ! alobar holoprosencephaly
is_a: MONDO:0019758 ! midline interhemispheric variant of holoprosencephaly
property_value: exactMatch DOID:0110878
property_value: exactMatch http://identifiers.org/mesh/C566464
property_value: exactMatch http://identifiers.org/omim/609637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864827
property_value: exactMatch NCIT:C75460

[Term]
id: MONDO:0012323
name: lethal acantholytic epidermolysis bullosa
def: "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." [Orphanet:158687]
subset: gard_rare {source="GARD:0009910"}
subset: ordo_disease {source="Orphanet:158687"}
synonym: "EBLA" RELATED [MONDO:Lexical, OMIM:609638]
synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OMIM:609638]
synonym: "epidermolysis bullosa, lethal acantholytic; EBLA" RELATED [OMIM:609638]
synonym: "LAEB" EXACT [Orphanet:158687]
synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638]
xref: GARD:0009910 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158687", source="ORDO:158687/attributed", source="ORDO:158687/ntbt"}
xref: MESH:C535493 {source="Orphanet:158687", source="ORDO:158687/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609638 {source="Orphanet:158687", source="ORDO:158687/e", source="MONDO:equivalentTo"}
xref: Orphanet:158687 {source="OMIM:609638", source="MONDO:equivalentTo"}
xref: UMLS:C1864826 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609638", source="Orphanet:158687", source="ORDO:158687/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015550 {source="Orphanet:158687"} ! suprabasal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C535493
property_value: exactMatch http://identifiers.org/omim/609638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864826
property_value: exactMatch Orphanet:158687
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic xsd:anyURI {source="GARD:0009910"}

[Term]
id: MONDO:0012324
name: 14q22q23 microdeletion syndrome
def: "14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." [Orphanet:264200]
subset: ordo_malformation_syndrome {source="Orphanet:264200"}
synonym: "14q22-q23 microdeletion syndrome" EXACT [Orphanet:264200]
synonym: "chromosome 14Q22 deletion syndrome" RELATED [OMIM:609640]
synonym: "Del(14)(q22q23)" EXACT [Orphanet:264200]
synonym: "Frias syndrome" RELATED [OMIM:609640]
synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM:609640]
synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200]
synonym: "monosomy 14q22q23" EXACT [Orphanet:264200]
xref: GARD:0002384 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:264200", source="ORDO:264200/attributed", source="ORDO:264200/ntbt"}
xref: MESH:C535639 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609640 {source="ORDO:264200/e", source="Orphanet:264200", source="MONDO:equivalentTo"}
xref: Orphanet:264200 {source="MONDO:equivalentTo", source="OMIM:609640"}
xref: UMLS:C1864825 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609640"}
is_a: MONDO:0016912 {source="Orphanet:264200"} ! partial deletion of the long arm of chromosome 14
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:264200"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch Orphanet:2055
property_value: exactMatch http://identifiers.org/mesh/C535639
property_value: exactMatch http://identifiers.org/omim/609640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864825
property_value: exactMatch Orphanet:264200

[Term]
id: MONDO:0012325
name: Nguyen syndrome
subset: gard_rare {source="GARD:0009754"}
synonym: "MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [GARD:0009754]
synonym: "MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [OMIM:609643]
synonym: "Nguyen syndrome" EXACT [OMIM:609643]
xref: GARD:0009754 {source="MONDO:equivalentTo"}
xref: MESH:C536115 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609643 {source="MONDO:equivalentTo"}
xref: UMLS:C1864823 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609643"}
is_a: MONDO:0003847 {source="MESH:C536115/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536115
property_value: exactMatch http://identifiers.org/omim/609643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864823
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome xsd:anyURI {source="GARD:0009754"}

[Term]
id: MONDO:0012326
name: autosomal recessive nonsyndromic deafness 42
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 42" EXACT [DOID:0110500]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 42" EXACT [DOID:0110500, MONDORULE:2]
synonym: "deafness, autosomal recessive 42" RELATED [MONDO:Lexical, OMIM:609646]
synonym: "deafness, autosomal recessive 42; DFNB42" RELATED [OMIM:609646]
synonym: "deafness, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:609646]
synonym: "DFNB42" EXACT [DOID:0110500, MONDO:Lexical, OMIM:609646]
synonym: "ILDR1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110500 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110500"}
xref: MESH:C566460 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609646 {source="DOID:0110500", source="MONDO:equivalentTo"}
xref: UMLS:C1864818 {source="OMIM:609646", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609646", source="DOID:0110500", source="MONDO:Redundant", source="OMIM:609646"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110500
property_value: exactMatch http://identifiers.org/mesh/C566460
property_value: exactMatch http://identifiers.org/omim/609646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864818

[Term]
id: MONDO:0012327
name: autosomal recessive nonsyndromic deafness 46
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31." [DOID:0110503, PMID:15637723]
synonym: "autosomal recessive deafness 46" EXACT [DOID:0110503]
synonym: "autosomal recessive nonsyndromic deafness type 46" EXACT [DOID:0110503, MONDORULE:2]
synonym: "deafness, autosomal recessive 46" RELATED [MONDO:Lexical, OMIM:609647]
synonym: "deafness, autosomal recessive 46; DFNB46" RELATED [OMIM:609647]
synonym: "DFNB46" EXACT [DOID:0110503, MONDO:Lexical, OMIM:609647]
xref: DOID:0110503 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110503"}
xref: MESH:C566459 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609647 {source="DOID:0110503", source="MONDO:equivalentTo"}
xref: UMLS:C1864815 {source="OMIM:609647", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609647", source="DOID:0110503", source="OMIM:609647"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110503
property_value: exactMatch http://identifiers.org/mesh/C566459
property_value: exactMatch http://identifiers.org/omim/609647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864815

[Term]
id: MONDO:0012328
name: trichilemmal cyst
synonym: "Pilar cyst" RELATED [OMIM:609649]
synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical, OMIM:609649]
synonym: "trichilemmal cyst 1; TRICY1" RELATED [OMIM:609649]
synonym: "Tricholemmal cyst" RELATED [OMIM:609649]
synonym: "TRICY1" RELATED [MONDO:Lexical, OMIM:609649]
xref: COHD:4115282 {source="MONDO:equivalentTo"}
xref: OMIM:609649 {source="MONDO:equivalentTo"}
xref: SCTID:254677004 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo"}
xref: UMLS:C1864801 {source="OMIM:609649", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C2266788 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/609649
property_value: exactMatch http://identifiers.org/snomedct/254677004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2266788

[Term]
id: MONDO:0012329
name: short stature and Facioauriculothoracic malformations
synonym: "short stature and Facioauriculothoracic malformations" EXACT [OMIM:609654]
xref: MESH:C566457 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609654 {source="MONDO:equivalentTo"}
xref: UMLS:C1864791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609654"}
is_a: MONDO:0003847 {source="MESH:C566457/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566457
property_value: exactMatch http://identifiers.org/omim/609654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864791

[Term]
id: MONDO:0012330
name: talo-patello-scaphoid osteolysis
def: "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested." [Orphanet:50809]
subset: ordo_malformation_syndrome {source="Orphanet:50809"}
synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809]
synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655]
xref: GARD:0010061 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536894 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="ORDO:50809/e"}
xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"}
xref: UMLS:C1864784 {source="Orphanet:50809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:609655"}
is_a: MONDO:0019707 {source="Orphanet:50809"} ! primary osteolysis
property_value: exactMatch http://identifiers.org/mesh/C536894
property_value: exactMatch http://identifiers.org/omim/609655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864784
property_value: exactMatch Orphanet:50809

[Term]
id: MONDO:0012331
name: migraine with aura, susceptibility to, 9
subset: predisposition
synonym: "Mgr9" RELATED [OMIM:609670]
synonym: "migraine with aura, susceptibility to, 9" EXACT [OMIM:609670]
synonym: "migraine with aura, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:609670]
xref: OMIM:609670 {source="MONDO:equivalentTo"}
is_a: MONDO:0005475 {source="MONDOLEX:0012331"} ! migraine with aura
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864772
property_value: exactMatch http://identifiers.org/omim/609670

[Term]
id: MONDO:0012332
name: short stature-delayed bone age due to thyroid hormone metabolism deficiency
def: "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." [Orphanet:171706]
subset: ordo_disease {source="Orphanet:171706"}
synonym: "thyroid hormone metabolism, abnormal" RELATED [OMIM:609698]
xref: ICD10:E03.1 {source="Orphanet:171706", source="ORDO:171706/attributed", source="ORDO:171706/ntbt"}
xref: MESH:C566454 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609698 {source="ORDO:171706/e", source="Orphanet:171706", source="MONDO:equivalentTo"}
xref: Orphanet:171706 {source="MONDO:equivalentTo", source="OMIM:609698"}
xref: UMLS:C1864761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609698"}
is_a: MONDO:0016412 {source="Orphanet:171706"} ! peripheral hypothyroidism
property_value: exactMatch http://identifiers.org/mesh/C566454
property_value: exactMatch http://identifiers.org/omim/609698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864761
property_value: exactMatch Orphanet:171706

[Term]
id: MONDO:0012333
name: autosomal recessive nonsyndromic deafness 53
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 53" EXACT [DOID:0110509]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 53" EXACT [DOID:0110509, MONDORULE:2]
synonym: "COL11A2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 53" RELATED [MONDO:Lexical, OMIM:609706]
synonym: "deafness, autosomal recessive 53; DFNB53" RELATED [OMIM:609706]
synonym: "deafness, autosomal recessive type 53" EXACT [MONDORULE:2, OMIM:609706]
synonym: "DFNB53" EXACT [DOID:0110509, MONDO:Lexical, OMIM:609706]
xref: DOID:0110509 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110509"}
xref: MESH:C566453 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609706 {source="MONDO:equivalentTo", source="DOID:0110509"}
xref: UMLS:C1864746 {source="OMIM:609706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609706", source="DOID:0110509", source="MONDO:Redundant", source="OMIM:609706"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110509
property_value: exactMatch http://identifiers.org/mesh/C566453
property_value: exactMatch http://identifiers.org/omim/609706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864746

[Term]
id: MONDO:0012334
name: hereditary spastic paraplegia 29
def: "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." [Orphanet:101009]
subset: ordo_disease {source="Orphanet:101009"}
synonym: "autosomal dominant spastic paraplegia 29" EXACT [DOID:0110780]
synonym: "autosomal dominant spastic paraplegia type 29" RELATED [Orphanet:101009]
synonym: "hereditary spastic paraplegia type 29" EXACT [DOID:0110780, MONDORULE:2]
synonym: "spastic paraplegia 29" RELATED [GARD:0009729]
synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609727]
synonym: "spastic paraplegia 29, autosomal dominant; SPG29" RELATED [OMIM:609727]
synonym: "SPG29" EXACT [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009]
xref: DOID:0110780 {source="MONDO:equivalentTo"}
xref: GARD:0009729 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:101009/attributed", source="ORDO:101009/ntbt", source="Orphanet:101009", source="DOID:0110780"}
xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e", source="MONDO:ontobio"}
xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e", source="DOID:0110780"}
xref: Orphanet:101009 {source="OMIM:609727", source="MONDO:equivalentTo", source="DOID:0110780"}
xref: SCTID:733029008 {source="MONDO:equivalentTo"}
xref: UMLS:C1857855 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:609727", source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e"}
is_a: MONDO:0015087 {source="Orphanet:101009"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch DOID:0110780
property_value: exactMatch http://identifiers.org/mesh/C536863
property_value: exactMatch http://identifiers.org/omim/609727
property_value: exactMatch http://identifiers.org/snomedct/733029008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857855
property_value: exactMatch Orphanet:101009

[Term]
id: MONDO:0012335
name: obesity due to pro-opiomelanocortin deficiency
def: "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." [Orphanet:71526]
subset: ordo_malformation_syndrome {source="Orphanet:71526"}
synonym: "OBAIRH" RELATED [OMIM:609734]
synonym: "obesity, early-onset, adrenal insufficiency, and Red hair" RELATED [OMIM:609734]
synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [OMIM:609734]
synonym: "obesity, early-onset, with adrenal insufficiency and RED hair; OBAIRH" RELATED [OMIM:609734]
synonym: "POMC deficiency" EXACT [Orphanet:71526]
synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734]
xref: GARD:0010823 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E66.8 {source="ORDO:71526/attributed", source="ORDO:71526/ntbt", source="Orphanet:71526"}
xref: ICD9:255.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565726 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609734 {source="MONDO:equivalentTo", source="ORDO:71526/e", source="Orphanet:71526"}
xref: Orphanet:71526 {source="OMIM:609734", source="MONDO:equivalentTo"}
xref: SCTID:702949005 {source="MONDO:kboom-pr-1.00/0.78/6.60", source="MONDO:equivalentTo"}
xref: UMLS:C1857854 {source="OMIM:609734", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:71526"}
is_a: MONDO:0015825 {source="Orphanet:71526"} ! obesity due to congenital leptin resistance
property_value: exactMatch http://identifiers.org/mesh/C565726
property_value: exactMatch http://identifiers.org/omim/609734
property_value: exactMatch http://identifiers.org/snomedct/702949005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857854
property_value: exactMatch Orphanet:71526

[Term]
id: MONDO:0012336
name: cataract 22 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital nuclear cataract 2" NARROW [DOID:0110268]
synonym: "cataract 22, multiple types" RELATED [MONDO:Lexical, OMIM:609741]
synonym: "cataract 22, multiple types; CTRCT22" RELATED [OMIM:609741]
synonym: "cataract, congenital nuclear, autosomal recessive 2" RELATED [OMIM:609741]
synonym: "CATCN2" NARROW [DOID:0110268]
synonym: "CRYBB3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT22" EXACT [DOID:0110268, MONDO:Lexical, OMIM:609741]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB3" EXACT [MONDO:design_pattern]
xref: DOID:0110268 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110268"}
xref: MESH:C565725 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609741 {source="MONDO:equivalentTo", source="DOID:0110268"}
xref: UMLS:C1857853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609741"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110268
property_value: exactMatch http://identifiers.org/mesh/C565725
property_value: exactMatch http://identifiers.org/omim/609741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857853

[Term]
id: MONDO:0012337
name: GLC1I
synonym: "glaucoma 1, open angle, I" RELATED [MONDO:Lexical, OMIM:609745]
synonym: "glaucoma 1, open angle, I; GLC1I" RELATED [OMIM:609745]
synonym: "GLC1I" EXACT [MONDO:Lexical, OMIM:609745]
xref: MESH:C565724 {source="MONDO:equivalentTo"}
xref: OMIM:609745 {source="MONDO:equivalentTo"}
xref: UMLS:C1857852 {source="OMIM:609745", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="MESH:C565724"} ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: exactMatch http://identifiers.org/mesh/C565724
property_value: exactMatch http://identifiers.org/omim/609745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857852

[Term]
id: MONDO:0012338
name: EIG4
subset: predisposition
synonym: "EIG4" EXACT [MONDO:Lexical, OMIM:609750]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:609750]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 4; EIG4" RELATED [OMIM:609750]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:609750]
xref: OMIM:609750 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:609750"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857851
property_value: exactMatch http://identifiers.org/omim/609750

[Term]
id: MONDO:0012339
name: celiac disease, susceptibility to, 4
def: "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "celiac disease caused by mutation in MYO9B" EXACT [MONDO:design_pattern]
synonym: "celiac disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609753]
synonym: "celiac disease, susceptibility to, 4; CELIAC4" RELATED [OMIM:609753]
synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:609753]
synonym: "CELIAC4" RELATED [MONDO:Lexical, OMIM:609753]
synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [OMIM:609753]
synonym: "MYO9B celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to celiac disease 4" RELATED [OMIM:609753]
xref: OMIM:609753 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005130 ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857847
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/609753

[Term]
id: MONDO:0012340
name: CELIAC2
subset: predisposition
synonym: "celiac disease, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:609754]
synonym: "celiac disease, susceptibility to, 2; CELIAC2" RELATED [OMIM:609754]
synonym: "CELIAC2" EXACT [MONDO:Lexical, OMIM:609754]
synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [OMIM:609754]
xref: OMIM:609754 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:609754", source="OMIM:609754"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857846
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/609754

[Term]
id: MONDO:0012341
name: celiac disease, susceptibility to, 3
def: "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "celiac disease caused by mutation in CTLA4" EXACT [MONDO:design_pattern]
synonym: "celiac disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609755]
synonym: "celiac disease, susceptibility to, 3; CELIAC3" RELATED [OMIM:609755]
synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609755]
synonym: "CELIAC3" RELATED [MONDO:Lexical, OMIM:609755]
synonym: "CTLA4 celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [OMIM:609755]
synonym: "susceptibility to celiac disease 3" RELATED [OMIM:609755]
xref: OMIM:609755 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005130 ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857845
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/609755

[Term]
id: MONDO:0012342
name: 7q11.23 microduplication syndrome
def: "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." [Orphanet:96121]
subset: ordo_malformation_syndrome {source="Orphanet:96121"}
synonym: "7q11.23 duplication syndrome" RELATED [GARD:0012076]
synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [OMIM:609757]
synonym: "chromosome 7Q11.23 triplication syndrome" RELATED [OMIM:609757]
synonym: "dup(7)(q11.23)" EXACT [Orphanet:96121]
synonym: "Somerville-Van Der Aa syndrome" RELATED [OMIM:609757]
synonym: "trisomy 7q11.23" EXACT [Orphanet:96121]
synonym: "Wbs Duplication syndrome" RELATED [OMIM:609757]
synonym: "Wbs triplication syndrome" RELATED [OMIM:609757]
synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757]
xref: GARD:0012076 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q92.3 {source="ORDO:96121/attributed", source="ORDO:96121/ntbt", source="Orphanet:96121"}
xref: MESH:C565723 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609757 {source="MONDO:equivalentTo", source="ORDO:96121/e", source="Orphanet:96121"}
xref: Orphanet:96121 {source="OMIM:609757", source="MONDO:equivalentTo"}
xref: SCTID:726707004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857844 {source="OMIM:609757", source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:96121"}
xref: UMLS:C4512054 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016958 {source="MONDOLEX:0012342", source="Orphanet:96121"} ! partial duplication of the long arm of chromosome 7
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149767
property_value: exactMatch http://identifiers.org/mesh/C565723
property_value: exactMatch http://identifiers.org/omim/609757
property_value: exactMatch http://identifiers.org/snomedct/726707004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512054
property_value: exactMatch Orphanet:96121

[Term]
id: MONDO:0012343
name: AAA2
synonym: "AAA2" EXACT [MONDO:Lexical, OMIM:609782]
synonym: "aortic aneurysm, familial abdominal, 2" RELATED [MONDO:Lexical, OMIM:609782]
synonym: "aortic aneurysm, familial abdominal, 2; AAA2" RELATED [OMIM:609782]
xref: MESH:C565229 {source="MONDO:equivalentTo"}
xref: OMIM:609782 {source="MONDO:equivalentTo"}
xref: UMLS:C1853364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609782"}
is_a: MONDO:0007031 {source="MONDOLEX:0012343", source="OMIM:609782", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm
property_value: exactMatch http://identifiers.org/mesh/C565229
property_value: exactMatch http://identifiers.org/omim/609782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853364

[Term]
id: MONDO:0012344
name: Alzheimer disease 11
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." [DOID:0110044, PMID:18761660]
synonym: "AD11" EXACT [DOID:0110044]
synonym: "Ad11" RELATED [OMIM:609790]
synonym: "Alzheimer disease 11" EXACT [DOID:0110044, OMIM:609790]
synonym: "Alzheimer disease type 11" EXACT [MONDORULE:2, OMIM:609790]
synonym: "Alzheimer disease, familial, 11" RELATED [OMIM:609790]
synonym: "Alzheimer's disease 11" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 11" EXACT [DOID:0110044, MONDORULE:2]
xref: DOID:0110044 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110044"}
xref: MESH:C565228 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609790 {source="MONDO:equivalentTo", source="DOID:0110044"}
xref: UMLS:C1853360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609790"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110044
property_value: exactMatch http://identifiers.org/mesh/C565228
property_value: exactMatch http://identifiers.org/omim/609790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853360

[Term]
id: MONDO:0012345
name: acral peeling skin syndrome
def: "Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." [Orphanet:263534]
subset: gard_rare {source="GARD:0012863"}
subset: ordo_disease {source="Orphanet:263534"}
synonym: "acral deciduous skin" EXACT [Orphanet:263534]
synonym: "acral peeling skin syndrome" EXACT [OMIM:609796]
synonym: "acral PSS" EXACT [Orphanet:263534]
synonym: "localized deciduous skin" EXACT [Orphanet:263534]
synonym: "localized PSS" EXACT [Orphanet:263534]
synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796]
synonym: "peeling skin syndrome 2; PSS2" RELATED [OMIM:609796]
synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796]
synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796]
synonym: "PSS2" RELATED [MONDO:Lexical, OMIM:609796]
xref: GARD:0012863 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.8 {source="ORDO:263534/attributed", source="ORDO:263534/ntbt", source="Orphanet:263534"}
xref: MESH:C536316 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="ORDO:263534/e"}
xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"}
xref: SCTID:709416009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.93"}
xref: UMLS:C1853354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:263534", source="OMIM:609796"}
is_a: MONDO:0019347 {source="DC-OMIM:609796", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome
property_value: exactMatch http://identifiers.org/mesh/C536316
property_value: exactMatch http://identifiers.org/omim/609796
property_value: exactMatch http://identifiers.org/snomedct/709416009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853354
property_value: exactMatch Orphanet:263534
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome xsd:anyURI {source="GARD:0012863"}

[Term]
id: MONDO:0012346
name: GEFSP4
synonym: "Gefs+, type 4" RELATED [OMIM:609800]
synonym: "GEFSP4" EXACT [MONDO:Lexical, OMIM:609800]
synonym: "generalized epilepsy with febrile seizures plus, type 4" RELATED [MONDO:Lexical, OMIM:609800]
synonym: "generalized epilepsy with febrile seizures plus, type 4; GEFSP4" RELATED [OMIM:609800]
xref: MESH:C565227 {source="MONDO:equivalentTo"}
xref: OMIM:609800 {source="MONDO:equivalentTo"}
xref: UMLS:C1853345 {source="OMIM:609800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="DC-OMIM:609800", source="OMIM:609800"} ! generalized epilepsy with febrile seizures plus
property_value: exactMatch http://identifiers.org/mesh/C565227
property_value: exactMatch http://identifiers.org/omim/609800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853345

[Term]
id: MONDO:0012347
name: hamartoma, Precalcaneal congenital fibrolipomatous
synonym: "hamartoma, Precalcaneal congenital fibrolipomatous" EXACT [OMIM:609808]
synonym: "Pcfh" RELATED [OMIM:609808]
xref: MESH:C565226 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609808 {source="MONDO:equivalentTo"}
xref: UMLS:C1853298 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609808"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565226
property_value: exactMatch http://identifiers.org/omim/609808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853298

[Term]
id: MONDO:0012348
name: maturity-onset diabetes of the young type 8
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010662"}
synonym: "CEL maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes and pancreatic exocrine" EXACT [DOID:0111105]
synonym: "diabetes and pancreatic exocrine dysfunction" RELATED [OMIM:609812]
synonym: "diabetes mellitus MODY type 8" RELATED [GARD:0010662]
synonym: "diabetes-pancreatic exocrine dysfunction syndrome" RELATED [OMIM:609812]
synonym: "DPED" RELATED [GARD:0010662]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in CEL" EXACT []
synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [DOID:0111105]
synonym: "maturity-onset diabetes of the young, type 8" RELATED [GARD:0010662]
synonym: "maturity-onset diabetes of the young, type 8, with exocrine dysfunction" RELATED [GARD:0010662, MONDO:Lexical, OMIM:609812]
synonym: "maturity-onset diabetes of the young, type 8, with exocrine dysfunction; MODY8" RELATED [OMIM:609812]
synonym: "MODY type 8" EXACT [DOID:0111105]
synonym: "MODY8" EXACT [DOID:0111105, MONDO:Lexical, OMIM:609812]
synonym: "type 8 maturity-onset diabetes of the young" RELATED [GARD:0010662]
xref: DOID:0111105 {source="MONDO:equivalentTo"}
xref: GARD:0010662 {source="MONDO:equivalentTo"}
xref: MESH:C565225 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609812 {source="DOID:0111105", source="MONDO:equivalentTo"}
xref: SCTID:609575003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.11"}
is_a: MONDO:0018911 {source="DC-OMIM:609812", source="DOID:0111105", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853297
property_value: exactMatch DOID:0111105
property_value: exactMatch http://identifiers.org/mesh/C565225
property_value: exactMatch http://identifiers.org/omim/609812
property_value: exactMatch http://identifiers.org/snomedct/609575003
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8 xsd:anyURI {source="GARD:0010662"}

[Term]
id: MONDO:0012349
name: spondylocostal dysostosis 3, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG" EXACT []
synonym: "LFNG autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SCDO3" RELATED [MONDO:Lexical, OMIM:609813]
synonym: "SCOD3" RELATED [GARD:0004973]
synonym: "spondylocostal dysostosis 3" RELATED [GARD:0004973]
synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:609813]
synonym: "spondylocostal dysostosis 3, autosomal recessive; SCDO3" RELATED [OMIM:609813]
xref: GARD:0004973 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:609813 {source="MONDO:equivalentTo"}
xref: UMLS:C1853296 {source="OMIM:609813", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:609813", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
property_value: exactMatch http://identifiers.org/omim/609813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853296

[Term]
id: MONDO:0012350
name: complement factor H deficiency
synonym: "Cfh deficiency" RELATED [OMIM:609814]
synonym: "CFHD" RELATED [MONDO:Lexical, OMIM:609814]
synonym: "complement factor H deficiency" EXACT [MONDO:Lexical, OMIM:609814]
synonym: "complement factor H deficiency; CFHD" RELATED [OMIM:609814]
synonym: "factor H deficiency" RELATED [OMIM:609814]
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562875 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609814 {source="MONDO:equivalentTo"}
xref: SCTID:234622003 {source="MONDO:kboom-pr-1.00/0.77/5.73", source="MONDO:equivalentTo"}
is_a: MONDO:0005334 ! hereditary nephritis
is_a: MONDO:0016244 {source="ORDO:2134/btnt"} ! atypical hemolytic-uremic syndrome
is_a: MONDO:0018013 {source="ORDO:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398777
property_value: exactMatch http://identifiers.org/mesh/C562875
property_value: exactMatch http://identifiers.org/omim/609814
property_value: exactMatch http://identifiers.org/snomedct/234622003

[Term]
id: MONDO:0012351
name: zygodactyly type 1
subset: ordo_clinical_subtype {source="Orphanet:295187"}
synonym: "SD1, Weidenreich type" EXACT [Orphanet:295187]
synonym: "SD1a" EXACT [Orphanet:295187]
synonym: "syndactyly type 1, Weidenreich type" EXACT [Orphanet:295187]
synonym: "syndactyly type 1a" EXACT [Orphanet:295187]
synonym: "Zd1" RELATED [OMIM:609815]
synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815]
synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815]
synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187]
xref: ICD10:Q70.3 {source="Orphanet:295187", source="ORDO:295187/attributed", source="ORDO:295187/ntbt"}
xref: MESH:C565223 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609815 {source="ORDO:295187/e", source="Orphanet:295187", source="MONDO:equivalentTo"}
xref: Orphanet:295187 {source="OMIM:609815", source="MONDO:equivalentTo"}
xref: UMLS:C1853294 {source="NCBI:mim2gene_medline", source="OMIM:609815", source="Orphanet:295187", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0008512 {source="MONDOLEX:0012351", source="Orphanet:295187"} ! syndactyly type 1
property_value: exactMatch http://identifiers.org/mesh/C565223
property_value: exactMatch http://identifiers.org/omim/609815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853294
property_value: exactMatch Orphanet:295187

[Term]
id: MONDO:0012352
name: vasculitis, lymphocytic, cutaneous small vessel
synonym: "vasculitis, lymphocytic, cutaneous small vessel" EXACT [OMIM:609817]
xref: MESH:C565222 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609817 {source="MONDO:equivalentTo"}
xref: UMLS:C1853293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609817"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565222
property_value: exactMatch http://identifiers.org/omim/609817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853293

[Term]
id: MONDO:0012353
name: erythrocytosis, familial, 3
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ECYT3" RELATED [MONDO:Lexical, OMIM:609820]
synonym: "EGLN1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 3" EXACT [MONDO:Lexical, OMIM:609820]
synonym: "erythrocytosis, familial, 3; ECYT3" RELATED [OMIM:609820]
synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:609820]
synonym: "familial polycythemia caused by mutation in EGLN1" EXACT [MONDO:design_pattern]
xref: DOID:0080338 {source="MONDO:equivalentTo"}
xref: MESH:C565221 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609820 {source="MONDO:equivalentTo", source="DOID:0080338"}
xref: UMLS:C1853286 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609820"}
is_a: MONDO:0016599 {source="ORDO:247511/btnt"} ! autosomal dominant secondary polycythemia
property_value: exactMatch DOID:0080338
property_value: exactMatch http://identifiers.org/mesh/C565221
property_value: exactMatch http://identifiers.org/omim/609820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853286

[Term]
id: MONDO:0012354
name: platelet-type bleeding disorder 8
def: "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." [Orphanet:36355]
subset: ordo_disease {source="Orphanet:36355"}
synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692, Orphanet:36355]
synonym: "BDPLT8" RELATED [MONDO:Lexical, OMIM:609821]
synonym: "bleeding disorder due to P2Rx1 defect, somatic" RELATED [OMIM:609821]
synonym: "bleeding disorder due to P2Ry12 defect" RELATED [OMIM:609821]
synonym: "bleeding disorder, platelet-type 8" RELATED [GARD:0012478]
synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical, OMIM:609821]
synonym: "bleeding disorder, platelet-type, 8; BDPLT8" RELATED [OMIM:609821]
synonym: "P2Y12 defect" EXACT [DOID:0060692]
xref: DOID:0060692 {source="MONDO:equivalentTo"}
xref: GARD:0012478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.8 {source="DOID:0060692", source="ORDO:36355/attributed", source="ORDO:36355/ntbt", source="Orphanet:36355"}
xref: MESH:C565220 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609821 {source="DOID:0060692", source="MONDO:equivalentTo", source="ORDO:36355/e", source="Orphanet:36355"}
xref: Orphanet:36355 {source="DOID:0060692", source="MONDO:equivalentTo", source="OMIM:609821"}
xref: SCTID:725291001 {source="MONDO:equivalentTo"}
xref: UMLS:C1853278 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:36355", source="OMIM:609821"}
is_a: MONDO:0017142 {source="Orphanet:36355"} ! hemorrhagic disorder due to a qualitative platelet defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277555
property_value: exactMatch DOID:0060692
property_value: exactMatch http://identifiers.org/mesh/C565220
property_value: exactMatch http://identifiers.org/omim/609821
property_value: exactMatch http://identifiers.org/snomedct/725291001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853278
property_value: exactMatch Orphanet:36355

[Term]
id: MONDO:0012355
name: autosomal recessive nonsyndromic deafness 28
def: "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." [NCIT:C129023]
synonym: "autosomal recessive deafness 28" EXACT [DOID:0110486]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 28" EXACT [DOID:0110486, MONDORULE:2]
synonym: "deafness, autosomal recessive 28" RELATED [MONDO:Lexical, OMIM:609823]
synonym: "deafness, autosomal recessive 28; DFNB28" RELATED [OMIM:609823]
synonym: "deafness, autosomal recessive type 28" EXACT [MONDORULE:2, OMIM:609823]
synonym: "DFNB28" EXACT [DOID:0110486, MONDO:Lexical, OMIM:609823]
synonym: "TRIOBP autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110486 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110486"}
xref: MESH:C565218 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129023 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:609823 {source="MONDO:equivalentTo", source="DOID:0110486"}
xref: UMLS:C1853276 {source="NCIT:C129023", source="OMIM:609823", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609823", source="DOID:0110486", source="MONDO:Redundant", source="OMIM:609823"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110486
property_value: exactMatch http://identifiers.org/mesh/C565218
property_value: exactMatch http://identifiers.org/omim/609823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853276
property_value: exactMatch NCIT:C129023

[Term]
id: MONDO:0012356
name: glomerulocystic kidney disease with hyperuricemia and isosthenuria
synonym: "glomerulocystic kidney disease with hyperuricemia and isosthenuria" EXACT [OMIM:609886]
xref: MESH:C563693 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609886 {source="MONDO:equivalentTo"}
xref: UMLS:C1835934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609886"}
is_a: MONDO:0008264 {source="ORDO:34149/btnt"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
property_value: exactMatch http://identifiers.org/mesh/C563693
property_value: exactMatch http://identifiers.org/omim/609886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835934

[Term]
id: MONDO:0012357
name: glaucoma 1, open angle, G
def: "Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glaucoma 1, open angle, G" EXACT [MONDO:Lexical, OMIM:609887]
synonym: "glaucoma 1, open angle, G; GLC1G" RELATED [OMIM:609887]
synonym: "glaucoma 1, open angle, type G" EXACT [MONDORULE:1, OMIM:609887]
synonym: "GLC1G" RELATED [MONDO:Lexical, OMIM:609887]
synonym: "open-angle glaucoma caused by mutation in WDR36" EXACT [MONDO:design_pattern]
synonym: "WDR36 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563692 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609887 {source="MONDO:equivalentTo"}
xref: UMLS:C1835933 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609887"}
is_a: MONDO:0005338 {source="MESH:C563692", source="MONDO:Redundant"} ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: exactMatch http://identifiers.org/mesh/C563692
property_value: exactMatch http://identifiers.org/omim/609887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835933

[Term]
id: MONDO:0012358
name: LPRS1
subset: predisposition
synonym: "leprosy, Paucibacillary type, susceptibility to, 1" RELATED [OMIM:609888]
synonym: "leprosy, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:609888]
synonym: "leprosy, susceptibility to, 1; LPRS1" RELATED [OMIM:609888]
synonym: "LPRS1" EXACT [MONDO:Lexical, OMIM:609888]
xref: OMIM:609888 {source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="DC-OMIM:609888"} ! leprosy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835932
property_value: exactMatch http://identifiers.org/omim/609888

[Term]
id: MONDO:0012359
name: combined immunodeficiency due to partial RAG1 deficiency
def: "Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." [Orphanet:231154]
subset: ordo_disease {source="Orphanet:231154"}
synonym: "ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [OMIM:609889]
synonym: "Cid due to partial RAG1 deficiency" EXACT [Orphanet:231154]
synonym: "Cid with expansion of gamma delta T cells" EXACT [Orphanet:231154]
synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154]
xref: ICD10:D81.8 {source="Orphanet:231154", source="ORDO:231154/attributed", source="ORDO:231154/ntbt"}
xref: MESH:C563691 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609889 {source="ORDO:231154/e", source="Orphanet:231154", source="MONDO:equivalentTo"}
xref: Orphanet:231154 {source="OMIM:609889", source="MONDO:equivalentTo"}
xref: SCTID:725290000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835931 {source="OMIM:609889", source="Orphanet:231154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4510944 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0018814 {source="Orphanet:231154"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C563691
property_value: exactMatch http://identifiers.org/omim/609889
property_value: exactMatch http://identifiers.org/snomedct/725290000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835931
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510944
property_value: exactMatch Orphanet:231154

[Term]
id: MONDO:0012360
name: congenital nongoitrous hypothryoidism 3
def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1." [DOID:0070127]
synonym: "CHNG3" EXACT [DOID:0070127, MONDO:Lexical, OMIM:609893]
synonym: "congenital nongoitrous hypothyroidism 3" RELATED [DOID:0070127]
synonym: "hypothyroidism, congenital, nongoitrous, 3" RELATED [MONDO:Lexical, OMIM:609893]
synonym: "hypothyroidism, congenital, nongoitrous, 3; CHNG3" RELATED [OMIM:609893]
synonym: "resistance to thyrotropin" RELATED [OMIM:609893]
synonym: "thyrotropin resistance" RELATED [OMIM:609893]
xref: DOID:0070127 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="DOID:0070127"}
xref: MESH:C567935 {source="MONDO:equivalentTo"}
xref: OMIM:609893 {source="MONDO:equivalentTo", source="DOID:0070127"}
xref: UMLS:C2940785 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609893"}
is_a: MONDO:0000045 {source="DC-OMIM:609893", source="OMIM:609893"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0019995 {source="ORDO:97927/btnt"} ! peripheral resistance to thyroid hormones
property_value: exactMatch DOID:0070127
property_value: exactMatch http://identifiers.org/mesh/C567935
property_value: exactMatch http://identifiers.org/omim/609893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2940785

[Term]
id: MONDO:0012361
name: systemic lupus erythematosus, susceptibility to, 5
subset: predisposition
synonym: "SLEB5" EXACT [MONDO:Lexical, OMIM:609903]
synonym: "systemic lupus erythematosus, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:609903]
synonym: "systemic lupus erythematosus, susceptibility to, 5; SLEB5" EXACT [OMIM:609903]
xref: OMIM:609903 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835929
property_value: exactMatch http://identifiers.org/omim/609903

[Term]
id: MONDO:0012362
name: dilated cardiomyopathy 1P
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1P" EXACT [MONDO:Lexical, OMIM:609909]
synonym: "cardiomyopathy, dilated, 1P; CMD1P" EXACT [OMIM:609909]
synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4, OMIM:609909]
synonym: "CMD1P" EXACT [DOID:0110439, MONDO:Lexical, OMIM:609909]
synonym: "dilated cardiomyopathy type 1P" EXACT [DOID:0110439, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern]
synonym: "PLN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110439 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110439"}
xref: MESH:C563690 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609909 {source="DOID:0110439", source="MONDO:equivalentTo"}
xref: UMLS:C1835928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609909"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110439
property_value: exactMatch http://identifiers.org/mesh/C563690
property_value: exactMatch http://identifiers.org/omim/609909
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835928

[Term]
id: MONDO:0012363
name: retinitis pigmentosa 32
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3." [DOID:0110355, PMID:16189710]
subset: gard_rare {source="GARD:0010395"}
synonym: "retinitis pigmentosa 32" EXACT [MONDO:Lexical, OMIM:609913]
synonym: "retinitis pigmentosa 32; RP32" EXACT [OMIM:609913]
synonym: "retinitis pigmentosa type 32" EXACT [DOID:0110355, MONDORULE:2]
synonym: "RP32" EXACT [DOID:0110355, GARD:0010395, MONDO:Lexical, OMIM:609913]
xref: DOID:0110355 {source="MONDO:equivalentTo"}
xref: GARD:0010395 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110355"}
xref: MESH:C563689 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609913 {source="MONDO:equivalentTo", source="DOID:0110355"}
xref: UMLS:C1835927 {source="MEDGEN:kboom-pr98-c99", source="OMIM:609913", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:609913", source="DOID:0110355", source="MESH:C563689", source="OMIM:609913"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110355
property_value: exactMatch http://identifiers.org/mesh/C563689
property_value: exactMatch http://identifiers.org/omim/609913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835927
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32 xsd:anyURI {source="GARD:0010395"}

[Term]
id: MONDO:0012364
name: dilated cardiomyopathy 1Q
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1." [DOID:0110442, PMID:16228230]
synonym: "cardiomyopathy, dilated, 1Q" RELATED [MONDO:Lexical, OMIM:609915]
synonym: "cardiomyopathy, dilated, 1Q; CMD1Q" RELATED [OMIM:609915]
synonym: "CMD1Q" EXACT [DOID:0110442, MONDO:Lexical, OMIM:609915]
synonym: "dilated cardiomyopathy type 1Q" EXACT [DOID:0110442, MONDORULE:4]
xref: DOID:0110442 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110442"}
xref: MESH:C563688 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609915 {source="MONDO:equivalentTo", source="DOID:0110442"}
xref: UMLS:C1835926 {source="OMIM:609915", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110442
property_value: exactMatch http://identifiers.org/mesh/C563688
property_value: exactMatch http://identifiers.org/omim/609915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835926

[Term]
id: MONDO:0012365
name: GBD2
synonym: "gallbladder disease 2" RELATED [MONDO:Lexical, OMIM:609918]
synonym: "gallbladder disease 2; GBD2" RELATED [OMIM:609918]
synonym: "GBD2" EXACT [MONDO:Lexical, OMIM:609918]
xref: MESH:C563687 {source="MONDO:equivalentTo"}
xref: OMIM:609918 {source="MONDO:equivalentTo"}
xref: UMLS:C1835925 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609918"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005281 {source="DC-OMIM:609918", source="OMIM:609918"} ! gallbladder disease
property_value: exactMatch http://identifiers.org/mesh/C563687
property_value: exactMatch http://identifiers.org/omim/609918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835925

[Term]
id: MONDO:0012366
name: GBD3
synonym: "gallbladder disease 3" RELATED [MONDO:Lexical, OMIM:609919]
synonym: "gallbladder disease 3; GBD3" RELATED [OMIM:609919]
synonym: "GBD3" EXACT [MONDO:Lexical, OMIM:609919]
xref: MESH:C563686 {source="MONDO:equivalentTo"}
xref: OMIM:609919 {source="MONDO:equivalentTo"}
xref: UMLS:C1835924 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609919"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005281 {source="DC-OMIM:609919", source="OMIM:609919"} ! gallbladder disease
property_value: exactMatch http://identifiers.org/mesh/C563686
property_value: exactMatch http://identifiers.org/omim/609919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835924

[Term]
id: MONDO:0012367
name: retinitis pigmentosa 31
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010396"}
synonym: "retinitis pigmentosa 31" EXACT [MONDO:Lexical, OMIM:609923]
synonym: "retinitis pigmentosa 31; RP31" RELATED [OMIM:609923]
synonym: "retinitis pigmentosa caused by mutation in TOPORS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 31" EXACT [DOID:0110391, MONDORULE:2, OMIM:609923]
synonym: "RP 31" RELATED [GARD:0010396]
synonym: "RP31" EXACT [DOID:0110391, MONDO:Lexical, OMIM:609923]
synonym: "TOPORS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110391 {source="MONDO:equivalentTo"}
xref: GARD:0010396 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110391"}
xref: MESH:C563685 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609923 {source="MONDO:equivalentTo", source="DOID:0110391"}
xref: UMLS:C1835923 {source="OMIM:609923", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:609923", source="DOID:0110391", source="MESH:C563685", source="MONDO:Redundant", source="OMIM:609923"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110391
property_value: exactMatch http://identifiers.org/mesh/C563685
property_value: exactMatch http://identifiers.org/omim/609923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835923
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31 xsd:anyURI {source="GARD:0010396"}

[Term]
id: MONDO:0012368
name: aminoacylase 1 deficiency
def: "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." [Orphanet:137754]
subset: gard_rare
subset: ordo_disease {source="Orphanet:137754"}
synonym: "ACY1 deficiency" RELATED [GARD:0009741]
synonym: "ACY1D" EXACT [GARD:0009741, MESH:C538246, MONDO:Lexical, OMIM:609924, Orphanet:137754]
synonym: "aminoacylase 1 deficiency" RELATED [MONDO:Lexical, OMIM:609924]
synonym: "aminoacylase 1 deficiency; ACY1D" RELATED [OMIM:609924]
synonym: "deficiency of the aminoacylase-1 enzyme" RELATED [GARD:0009741, MESH:C538246]
synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754]
synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754]
xref: EFO:1001981 {source="MONDO:equivalentTo"}
xref: GARD:0009741 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="Orphanet:137754", source="ORDO:137754/attributed", source="ORDO:137754/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538246 {source="MONDO:equivalentTo"}
xref: OMIM:609924 {source="Orphanet:137754", source="ORDO:137754/e", source="MONDO:equivalentTo", source="GARD:0009741"}
xref: Orphanet:137754 {source="OMIM:609924", source="MONDO:equivalentTo", source="GARD:0009741"}
xref: SCTID:709282004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835922 {source="OMIM:609924", source="Orphanet:137754", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0009741"}
is_a: MONDO:0004736 {source="MESH:C538246", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder
is_a: MONDO:0017686 {source="EFO:1001981", source="Orphanet:137754"} ! inborn aminoacylase deficiency
is_a: MONDO:0019058 {source="Orphanet:137754"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C538246
property_value: exactMatch http://identifiers.org/omim/609924
property_value: exactMatch http://identifiers.org/snomedct/709282004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835922
property_value: exactMatch Orphanet:137754
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency xsd:anyURI {source="GARD:0009741"}

[Term]
id: MONDO:0012369
name: systemic lupus erythematosus, susceptibility to, 6
subset: predisposition
synonym: "SLEB6" EXACT [MONDO:Lexical, OMIM:609939]
synonym: "systemic lupus erythematosus, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:609939]
synonym: "systemic lupus erythematosus, susceptibility to, 6; SLEB6" EXACT [OMIM:609939]
xref: OMIM:609939 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835919
property_value: exactMatch http://identifiers.org/omim/609939

[Term]
id: MONDO:0012370
name: autosomal recessive nonsyndromic deafness 51
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12." [DOID:0110508, PMID:16158433]
synonym: "autosomal recessive deafness 51" EXACT [DOID:0110508]
synonym: "autosomal recessive nonsyndromic deafness type 51" EXACT [DOID:0110508, MONDORULE:2]
synonym: "deafness, autosomal recessive 51" EXACT [MONDO:Lexical, OMIM:609941]
synonym: "deafness, autosomal recessive 51; DFNB51" EXACT [OMIM:609941]
synonym: "DFNB51" EXACT [DOID:0110508, MONDO:Lexical, OMIM:609941]
xref: DOID:0110508 {source="MONDO:equivalentTo"}
xref: GARD:0009918 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110508"}
xref: MESH:C538202 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609941 {source="MONDO:equivalentTo", source="DOID:0110508"}
is_a: MONDO:0019588 {source="DC-OMIM:609941", source="DOID:0110508", source="OMIM:609941"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864968
property_value: exactMatch DOID:0110508
property_value: exactMatch http://identifiers.org/mesh/C538202
property_value: exactMatch http://identifiers.org/omim/609941

[Term]
id: MONDO:0012371
name: Noonan syndrome 3
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009885"}
synonym: "KRAS gene related Noonan syndrome" EXACT [GARD:0009885]
synonym: "KRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 3" EXACT [MONDO:Lexical, OMIM:609942]
synonym: "Noonan syndrome 3; NS3" EXACT [OMIM:609942]
synonym: "Noonan syndrome caused by mutation in KRAS" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 3" EXACT [DOID:0060581, MONDORULE:1, OMIM:609942]
synonym: "NS3" EXACT [DOID:0060581, MONDO:Lexical, OMIM:609942]
xref: DOID:0060581 {source="MONDO:equivalentTo"}
xref: GARD:0009885 {source="MONDO:equivalentTo"}
xref: MESH:C537847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609942 {source="MONDO:equivalentTo", source="DOID:0060581"}
xref: UMLS:C1860991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609942"}
is_a: MONDO:0018997 {source="DC-OMIM:609942", source="DOID:0060581", source="MESH:C537847", source="MONDO:Redundant", source="OMIM:609942"} ! Noonan syndrome
property_value: exactMatch DOID:0060581
property_value: exactMatch http://identifiers.org/mesh/C537847
property_value: exactMatch http://identifiers.org/omim/609942
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860991
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 xsd:anyURI {source="GARD:0009885"}

[Term]
id: MONDO:0012372
name: obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
is_obsolete: true
replaced_by: MONDO:0007617

[Term]
id: MONDO:0012373
name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
subset: gard_rare {source="GARD:0009939"}
synonym: "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" EXACT [OMIM:609944]
xref: GARD:0009939 {source="MONDO:equivalentTo"}
xref: MESH:C536182 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609944 {source="MONDO:equivalentTo"}
xref: UMLS:C1864966 {source="OMIM:609944", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C536182/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536182
property_value: exactMatch http://identifiers.org/omim/609944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864966
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features xsd:anyURI {source="GARD:0009939"}

[Term]
id: MONDO:0012374
name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
subset: gard_rare {source="GARD:0009893"}
synonym: "brachyphalangy, polydactyly and absent tibiae" RELATED [GARD:0009893]
synonym: "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" EXACT [OMIM:609945]
xref: GARD:0009893 {source="MONDO:equivalentTo"}
xref: MESH:C537100 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609945 {source="MONDO:equivalentTo"}
xref: UMLS:C1864965 {source="OMIM:609945", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537100
property_value: exactMatch http://identifiers.org/omim/609945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia xsd:anyURI {source="GARD:0009893"}

[Term]
id: MONDO:0012375
name: autosomal recessive nonsyndromic deafness 47
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3." [DOID:0110504, PMID:16261342]
synonym: "autosomal recessive deafness 47" EXACT [DOID:0110504]
synonym: "autosomal recessive nonsyndromic deafness type 47" EXACT [DOID:0110504, MONDORULE:2]
synonym: "deafness, autosomal recessive 47" RELATED [MONDO:Lexical, OMIM:609946]
synonym: "deafness, autosomal recessive 47; DFNB47" RELATED [OMIM:609946]
synonym: "deafness, neurosensory, autosomal recessive 47" RELATED [GARD:0009935]
synonym: "DFNB47" EXACT [DOID:0110504, MONDO:Lexical, OMIM:609946]
xref: DOID:0110504 {source="MONDO:equivalentTo"}
xref: GARD:0009935 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110504"}
xref: MESH:C566498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609946 {source="DOID:0110504", source="MONDO:equivalentTo"}
xref: UMLS:C1864964 {source="OMIM:609946", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:609946", source="DOID:0110504", source="OMIM:609946"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110504
property_value: exactMatch http://identifiers.org/mesh/C566498
property_value: exactMatch http://identifiers.org/omim/609946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864964

[Term]
id: MONDO:0012376
name: autosomal recessive nonsyndromic deafness 55
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2." [DOID:0110510, PMID:16098016]
synonym: "autosomal recessive deafness 55" EXACT [DOID:0110510]
synonym: "autosomal recessive nonsyndromic deafness type 55" EXACT [DOID:0110510, MONDORULE:2]
synonym: "deafness, autosomal recessive 55" RELATED [MONDO:Lexical, OMIM:609952]
synonym: "deafness, autosomal recessive 55; DFNB55" RELATED [OMIM:609952]
synonym: "DFNB55" EXACT [DOID:0110510, MONDO:Lexical, OMIM:609952]
xref: DOID:0110510 {source="MONDO:equivalentTo"}
xref: GARD:0009919 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110510"}
xref: MESH:C538203 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609952 {source="MONDO:equivalentTo", source="DOID:0110510"}
is_a: MONDO:0019588 {source="DC-OMIM:609952", source="DOID:0110510", source="OMIM:609952"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864962
property_value: exactMatch DOID:0110510
property_value: exactMatch http://identifiers.org/mesh/C538203
property_value: exactMatch http://identifiers.org/omim/609952

[Term]
id: MONDO:0012377
name: ASPG4
subset: predisposition
synonym: "ASPERGER syndrome, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:609954]
synonym: "ASPERGER syndrome, susceptibility to, 4; ASPG4" RELATED [OMIM:609954]
synonym: "ASPG4" EXACT [MONDO:Lexical, OMIM:609954]
xref: OMIM:609954 {source="MONDO:equivalentTo"}
is_a: MONDO:0005259 {source="DC-OMIM:609954", source="OMIM:609954"} ! Asperger syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864961
property_value: closeMatch Orphanet:1162
property_value: exactMatch http://identifiers.org/omim/609954

[Term]
id: MONDO:0012378
name: GINGF3
synonym: "fibromatosis gingival, hereditary, 3" RELATED [GARD:0009911]
synonym: "fibromatosis, gingival, 3" RELATED [MONDO:Lexical, OMIM:609955]
synonym: "fibromatosis, gingival, 3; GINGF3" RELATED [OMIM:609955]
synonym: "fibromatosis, gingival, hereditary, 3" RELATED [OMIM:609955]
synonym: "GGF3" RELATED [OMIM:609955]
synonym: "GINGF3" EXACT [MONDO:Lexical, OMIM:609955]
synonym: "gingival fibromatosis, 3" RELATED [GARD:0009911]
synonym: "hereditary gingival fibromatosis, 3" RELATED [GARD:0009911]
synonym: "HGF3" RELATED [GARD:0009911]
xref: GARD:0009911 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537928 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609955 {source="MONDO:equivalentTo"}
is_a: MONDO:0016070 {source="DC-OMIM:609955", source="OMIM:609955"} ! hereditary gingival fibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864960
property_value: exactMatch http://identifiers.org/mesh/C537928
property_value: exactMatch http://identifiers.org/omim/609955

[Term]
id: MONDO:0012379
name: asthma-related traits, susceptibility to, 3
subset: predisposition
synonym: "ASRT3" RELATED [OMIM:609958]
synonym: "asthma-related traits, susceptibility to, 3" EXACT [OMIM:609958]
synonym: "asthma-related traits, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609958]
xref: OMIM:609958 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012379"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864959
property_value: exactMatch http://identifiers.org/omim/609958

[Term]
id: MONDO:0012380
name: autosomal dominant nonsyndromic deafness 53
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12." [DOID:0110579, PMID:15958501]
synonym: "autosomal dominant deafness 53" EXACT [DOID:0110579]
synonym: "autosomal dominant nonsyndromic deafness type 53" EXACT [DOID:0110579, MONDORULE:2]
synonym: "deafness, autosomal dominant 53" RELATED [MONDO:Lexical, OMIM:609965]
synonym: "deafness, autosomal dominant 53; DFNA53" RELATED [OMIM:609965]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 53" RELATED [GARD:0009934]
synonym: "DFNA53" EXACT [DOID:0110579, MONDO:Lexical, OMIM:609965]
xref: DOID:0110579 {source="MONDO:equivalentTo"}
xref: GARD:0009934 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H90.3 {source="DOID:0110579"}
xref: MESH:C566495 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609965 {source="DOID:0110579", source="MONDO:equivalentTo"}
xref: UMLS:C1864957 {source="OMIM:609965", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:609965", source="DOID:0110579", source="OMIM:609965"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110579
property_value: exactMatch http://identifiers.org/mesh/C566495
property_value: exactMatch http://identifiers.org/omim/609965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864957

[Term]
id: MONDO:0012381
name: hyperinsulinism due to INSR deficiency
def: "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." [Orphanet:263458]
subset: ordo_disease {source="Orphanet:263458"}
synonym: "HHF5" RELATED [MONDO:Lexical, OMIM:609968]
synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [Orphanet:263458]
synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [Orphanet:263458]
synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968]
synonym: "hyperinsulinemic hypoglycemia, familial, 5; HHF5" RELATED [OMIM:609968]
synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968]
xref: DOID:0070220 {source="MONDO:equivalentTo"}
xref: ICD10:E16.1 {source="ORDO:263458/attributed", source="ORDO:263458/ntbt", source="Orphanet:263458"}
xref: MESH:C566494 {source="MONDO:equivalentTo"}
xref: OMIM:609968 {source="MONDO:equivalentTo", source="ORDO:263458/e", source="Orphanet:263458"}
xref: Orphanet:263458 {source="OMIM:609968", source="MONDO:equivalentTo"}
xref: SCTID:721235003 {source="MONDO:equivalentTo"}
xref: UMLS:C1864952 {source="OMIM:609968", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005803 {source="DC-OMIM:609968"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0017182 {source="Orphanet:263458"} ! familial hyperinsulinism
property_value: exactMatch DOID:0070220
property_value: exactMatch http://identifiers.org/mesh/C566494
property_value: exactMatch http://identifiers.org/omim/609968
property_value: exactMatch http://identifiers.org/snomedct/721235003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864952
property_value: exactMatch Orphanet:263458

[Term]
id: MONDO:0012382
name: hyperinsulinemic hypoglycemia, familial, 4
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HADH hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HHF4" RELATED [MONDO:Lexical, OMIM:609975]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to HADH deficiency" EXACT [MONDO:cjm]
synonym: "hyperinsulinemic hypoglycemia, familial, 4" EXACT [MONDO:Lexical, OMIM:609975]
synonym: "hyperinsulinemic hypoglycemia, familial, 4; HHF4" RELATED [OMIM:609975]
synonym: "hyperinsulinemic hypoglycemia, familial, type 4" EXACT [MONDORULE:1, OMIM:609975]
synonym: "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency" EXACT []
synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" RELATED []
xref: DOID:0070215 {source="MONDO:equivalentTo"}
xref: MESH:C566493 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609975 {source="MONDO:equivalentTo"}
xref: SCTID:721236002 {source="MONDO:equivalentTo"}
xref: UMLS:C1864948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609975"}
xref: UMLS:C4303473 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005803 {source="DC-OMIM:609975", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0009278 {source="MONDOLEX:0012382"} ! hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
property_value: exactMatch DOID:0070215
property_value: exactMatch http://identifiers.org/mesh/C566493
property_value: exactMatch http://identifiers.org/omim/609975
property_value: exactMatch http://identifiers.org/snomedct/721236002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303473

[Term]
id: MONDO:0012383
name: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
def: "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21." [Orphanet:75391]
subset: ordo_disease {source="Orphanet:75391"}
synonym: "IMD54" RELATED [OMIM:609981]
synonym: "immunodeficiency 54" RELATED [OMIM:609981]
synonym: "immunodeficiency 54; IMD54" RELATED [OMIM:609981]
synonym: "mini-chromosome maintenance 4" EXACT [NCIT:C123729]
synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect" RELATED [MONDO:Lexical, OMIM:609981]
synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD" RELATED [OMIM:609981]
synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:609981]
synonym: "NKGCD" RELATED [MONDO:Lexical, OMIM:609981]
synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391]
xref: ICD10:D84.8 {source="ORDO:75391/attributed", source="ORDO:75391/ntbt", source="Orphanet:75391"}
xref: MESH:C566492 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123729 {source="MONDO:equivalentTo"}
xref: OMIM:609981 {source="MONDO:equivalentTo", source="ORDO:75391/e", source="Orphanet:75391"}
xref: Orphanet:75391 {source="MONDO:equivalentTo", source="OMIM:609981"}
xref: SCTID:724275005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609981"}
is_a: MONDO:0018035 {source="Orphanet:75391", source="Orphanet:75391/inferred"} ! syndrome with combined immunodeficiency
is_a: MONDO:0021094 {source="MONDOLEX:0012383", source="NCIT:C123729"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/mesh/C566492
property_value: exactMatch http://identifiers.org/omim/609981
property_value: exactMatch http://identifiers.org/snomedct/724275005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864947
property_value: exactMatch NCIT:C123729
property_value: exactMatch Orphanet:75391

[Term]
id: MONDO:0012384
name: panic disorder 3
synonym: "Pand3" RELATED [OMIM:609985]
synonym: "panic disorder 3" EXACT [OMIM:609985]
synonym: "panic disorder susceptibility locus, chromosome 4Q-related" RELATED [OMIM:609985]
synonym: "panic disorder type 3" EXACT [MONDORULE:1, OMIM:609985]
xref: OMIM:609985 {source="MONDO:equivalentTo"}
xref: UMLS:C1864946 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609985"}
is_a: MONDO:0005383 {source="DC-OMIM:609985", source="MONDOLEX:0012384"} ! panic disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/609985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864946

[Term]
id: MONDO:0012385
name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
subset: gard_rare {source="GARD:0009942"}
synonym: "cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly" RELATED [OMIM:609989]
synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" EXACT [OMIM:609989]
xref: GARD:0009942 {source="MONDO:equivalentTo"}
xref: MESH:C537354 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609989 {source="MONDO:equivalentTo"}
xref: UMLS:C1864944 {source="OMIM:609989", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C537354/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537354
property_value: exactMatch http://identifiers.org/omim/609989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864944
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands xsd:anyURI {source="GARD:0009942"}

[Term]
id: MONDO:0012386
name: trichoscyphodysplasia
subset: gard_rare {source="GARD:0009861"}
synonym: "cupped metaphyses and cone-Shaped epiphyses with alopecia" RELATED [OMIM:609990]
synonym: "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" RELATED [OMIM:609990]
synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" RELATED [OMIM:609990]
synonym: "Trichoscyphodysplasia" EXACT [OMIM:609990]
xref: GARD:0009861 {source="MONDO:equivalentTo"}
xref: MESH:C536557 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609990 {source="MONDO:equivalentTo"}
xref: UMLS:C1864943 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609990"}
is_a: MONDO:0003847 {source="MESH:C536557/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C536557
property_value: exactMatch http://identifiers.org/omim/609990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864943
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia xsd:anyURI {source="GARD:0009861"}

[Term]
id: MONDO:0012387
name: osteosclerosis-ichthyosis-premature ovarian failure syndrome
def: "This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." [Orphanet:75325]
subset: ordo_disease {source="Orphanet:75325"}
synonym: "osteosclerosis with ichthyosis and POF" RELATED [GARD:0009904]
synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [OMIM:609993]
synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993]
synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325]
xref: GARD:0009904 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536064 {source="ORDO:75325/e", source="Orphanet:75325", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:609993 {source="ORDO:75325/e", source="Orphanet:75325", source="MONDO:equivalentTo"}
xref: Orphanet:75325 {source="MONDO:equivalentTo", source="OMIM:609993"}
xref: SCTID:722114007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0017274 {source="Orphanet:75325"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0018413 {source="Orphanet:75325"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019703 {source="Orphanet:75325"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0019852 {source="Orphanet:75325"} ! inherited primary ovarian failure
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C536064
property_value: exactMatch http://identifiers.org/omim/609993
property_value: exactMatch http://identifiers.org/snomedct/722114007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864942
property_value: exactMatch Orphanet:75325

[Term]
id: MONDO:0012388
name: MYP11
synonym: "myopia 11, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609994]
synonym: "myopia 11, autosomal dominant; MYP11" RELATED [OMIM:609994]
synonym: "MYP11" EXACT [MONDO:Lexical, OMIM:609994]
xref: MESH:C566490 {source="MONDO:equivalentTo"}
xref: OMIM:609994 {source="MONDO:equivalentTo"}
xref: UMLS:C1864941 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609994"}
is_a: MONDO:0001384 {source="DC-OMIM:609994", source="MESH:C566490", source="OMIM:609994"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566490
property_value: exactMatch http://identifiers.org/omim/609994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864941

[Term]
id: MONDO:0012389
name: MYP12
synonym: "myopia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609995]
synonym: "myopia 12, autosomal dominant; MYP12" RELATED [OMIM:609995]
synonym: "MYP12" EXACT [MONDO:Lexical, OMIM:609995]
xref: MESH:C566489 {source="MONDO:equivalentTo"}
xref: OMIM:609995 {source="MONDO:equivalentTo"}
xref: UMLS:C1864940 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609995"}
is_a: MONDO:0001384 {source="DC-OMIM:609995", source="MESH:C566489", source="OMIM:609995"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566489
property_value: exactMatch http://identifiers.org/omim/609995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864940

[Term]
id: MONDO:0012390
name: arthrogryposis multiplex with deafness, inguinal hernias, and early death
subset: gard_rare {source="GARD:0009946"}
synonym: "arthrogryposis multiplex with deafness, inguinal hernias, and early death" EXACT [OMIM:610001]
xref: GARD:0009946 {source="MONDO:equivalentTo"}
xref: MESH:C535381 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610001 {source="MONDO:equivalentTo"}
xref: UMLS:C1864939 {source="OMIM:610001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535381
property_value: exactMatch http://identifiers.org/omim/610001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death xsd:anyURI {source="GARD:0009946"}

[Term]
id: MONDO:0012391
name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant
def: "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." [Orphanet:1947]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1947"}
synonym: "ceroid lipofuscinosis neuronal 8" RELATED [GARD:0004010]
synonym: "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant" RELATED [OMIM:610003]
synonym: "CLN8" RELATED [GARD:0004010]
synonym: "CLN8 disease, EPMR (subtype)" RELATED [GARD:0004010]
synonym: "CLN8 disease, late infantile (subtype)" RELATED [GARD:0004010]
synonym: "CLN8 disease, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "epilepsy mental deterioration Finnish type" RELATED [GARD:0002163]
synonym: "epilepsy, progressive, with mental retardation" RELATED [OMIM:610003]
synonym: "EPMR" EXACT [DOID:0110724]
synonym: "NCL, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "neuronal ceroid lipofuscinosis 8" RELATED [GARD:0004010]
synonym: "neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "Northern epilepsy" EXACT [OMIM:610003, Orphanet:1947]
synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [DOID:0110724]
synonym: "progressive epilepsy - intellectual disability, Finnish type" RELATED [GARD:0004010]
synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT [DOID:0110724]
synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010]
xref: DOID:0110724 {source="MONDO:equivalentTo"}
xref: GARD:0002163 {source="MONDO:equivalentTo"}
xref: GARD:0004010 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="DOID:0110724", source="Orphanet:1947", source="ORDO:1947/attributed", source="ORDO:1947/ntbt"}
xref: OMIM:610003 {source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947", source="ORDO:1947/e"}
xref: Orphanet:1947 {source="OMIM:610003", source="DOID:0110724", source="MONDO:equivalentTo", source="GARD:0004010"}
is_a: MONDO:0010830 ! neuronal ceroid lipofuscinosis 8
is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch DOID:0110724
property_value: exactMatch http://identifiers.org/omim/610003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864923
property_value: exactMatch Orphanet:1947
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type xsd:anyURI {source="GARD:0002163"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy xsd:anyURI {source="GARD:0004010"}

[Term]
id: MONDO:0012392
name: 2-methylbutyryl-CoA dehydrogenase deficiency
def: "gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet." [Orphanet:79157]
subset: gard_rare {source="GARD:0010322"}
subset: ordo_disease {source="Orphanet:79157"}
synonym: "2-methylbutyric aciduria" EXACT [Orphanet:79157]
synonym: "2-methylbutyryl Glycinuria" RELATED [OMIM:610006]
synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:610006]
synonym: "butyryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98863]
synonym: "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [Orphanet:79157]
synonym: "SBCAD deficiency" EXACT [Orphanet:79157]
synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0010322]
synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006]
synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157]
xref: GARD:0010322 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:79157/attributed", source="ORDO:79157/ntbt", source="Orphanet:79157"}
xref: MESH:C566487 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98863 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:610006 {source="MONDO:equivalentTo", source="ORDO:79157/e", source="Orphanet:79157"}
xref: Orphanet:79157 {source="MONDO:equivalentTo", source="OMIM:610006"}
xref: UMLS:C1864912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610006", source="ORDO:79157/e", source="Orphanet:79157", source="NCIT:C98863"}
is_a: MONDO:0016399 {source="Orphanet:79157"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:79157"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019215 {source="Orphanet:79157"} ! classic organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C566487
property_value: exactMatch http://identifiers.org/omim/610006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864912
property_value: exactMatch NCIT:C98863
property_value: exactMatch Orphanet:79157
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0010322"}

[Term]
id: MONDO:0012393
name: congenital brain dysgenesis due to glutamine synthetase deficiency
subset: ordo_disease {source="Orphanet:71278"}
synonym: "congenital glutamine deficiency" RELATED [GARD:0009848]
synonym: "glutamine deficiency, congenital" RELATED [OMIM:610015]
synonym: "glutamine synthase deficiency, congenital systemic" RELATED [OMIM:610015]
synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:0009848]
synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278]
synonym: "inherited GS deficiency" EXACT [Orphanet:71278]
xref: GARD:0009848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:71278", source="ORDO:71278/attributed", source="ORDO:71278/ntbt"}
xref: MESH:C536832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610015 {source="ORDO:71278/e", source="Orphanet:71278", source="MONDO:equivalentTo"}
xref: Orphanet:71278 {source="MONDO:equivalentTo", source="OMIM:610015"}
xref: UMLS:C1864910 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610015", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017352 {source="Orphanet:71278"} ! disorder of glutamine metabolism
is_a: MONDO:0019058 {source="Orphanet:71278"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C536832
property_value: exactMatch http://identifiers.org/omim/610015
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864910
property_value: exactMatch Orphanet:71278

[Term]
id: MONDO:0012394
name: multiple synostoses syndrome 2
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0009916"}
synonym: "GDF5 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple synostoses syndrome 2" EXACT [MONDO:Lexical, OMIM:610017]
synonym: "multiple synostoses syndrome 2; SYNS2" RELATED [OMIM:610017]
synonym: "multiple synostoses syndrome caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1, OMIM:610017]
synonym: "SYNS2" RELATED [MONDO:Lexical, OMIM:610017]
xref: GARD:0009916 {source="MONDO:equivalentTo"}
xref: MESH:C537380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610017 {source="MONDO:equivalentTo"}
xref: UMLS:C1832708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610017"}
is_a: MONDO:0017923 {source="DC-OMIM:610017", source="MONDO:Redundant", source="OMIM:610017"} ! multiple synostoses syndrome
property_value: exactMatch http://identifiers.org/mesh/C537380
property_value: exactMatch http://identifiers.org/omim/610017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832708
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 xsd:anyURI {source="GARD:0009916"}

[Term]
id: MONDO:0012395
name: cataract 18
def: "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 2" EXACT [DOID:0110238]
synonym: "cataract (disease) caused by mutation in FYCO1" EXACT []
synonym: "cataract 18" EXACT [MONDO:Lexical, OMIM:610019]
synonym: "cataract 18 autosomal recessive" EXACT [DOID:0110238]
synonym: "cataract 18; CTRCT18" RELATED [OMIM:610019]
synonym: "cataract type 18" EXACT [DOID:0110238, MONDORULE:2, OMIM:610019]
synonym: "cataract, autosomal recessive congenital 2" RELATED [OMIM:610019]
synonym: "CATC2" EXACT [DOID:0110238]
synonym: "CTRCT18" EXACT [DOID:0110238, MONDO:Lexical, OMIM:610019]
synonym: "FYCO1 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110238 {source="MONDO:equivalentTo"}
xref: GARD:0009892 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.0 {source="DOID:0110238"}
xref: MESH:C535337 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610019 {source="DOID:0110238", source="MONDO:equivalentTo"}
is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864908
property_value: exactMatch DOID:0110238
property_value: exactMatch http://identifiers.org/mesh/C535337
property_value: exactMatch http://identifiers.org/omim/610019

[Term]
id: MONDO:0012396
name: exercise-induced hyperinsulinism
def: "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." [Orphanet:165991]
subset: ordo_disease {source="Orphanet:165991"}
synonym: "EIHI" EXACT [Orphanet:165991]
synonym: "exercise induced hyperinsulinemic hypoglycemia" RELATED [GARD:0009932]
synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [Orphanet:165991]
synonym: "HHF7" RELATED [MONDO:Lexical, OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia exercise-induced" RELATED [GARD:0009932]
synonym: "hyperinsulinemic hypoglycemia familial 7" RELATED [GARD:0009932]
synonym: "hyperinsulinemic hypoglycemia, exercise-induced" RELATED [OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia, familial, 7" RELATED [MONDO:Lexical, OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia, familial, 7; HHF7" RELATED [OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia, familial, type 7" EXACT [MONDORULE:1, OMIM:610021]
synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [Orphanet:165991]
synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [Orphanet:165991]
synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839]
synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839]
xref: DOID:0070214 {source="MONDO:equivalentTo"}
xref: GARD:0009932 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E16.1 {source="Orphanet:165991", source="ORDO:165991/attributed", source="ORDO:165991/ntbt"}
xref: MESH:C538376 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131839 {source="MONDO:equivalentTo"}
xref: OMIM:610021 {source="Orphanet:165991", source="ORDO:165991/e", source="MONDO:equivalentTo"}
xref: Orphanet:165991 {source="OMIM:610021", source="MONDO:equivalentTo"}
xref: SCTID:715830008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1864902 {source="OMIM:610021", source="Orphanet:165991", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C1864904 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0005803 {source="DC-OMIM:610021"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0015624 {source="Orphanet:165991"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0017706 {source="Orphanet:165991"} ! disorder of carbohydrate absorption and transport
property_value: exactMatch DOID:0070214
property_value: exactMatch http://identifiers.org/mesh/C538376
property_value: exactMatch http://identifiers.org/omim/610021
property_value: exactMatch http://identifiers.org/snomedct/715830008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864902
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864904
property_value: exactMatch NCIT:C131839
property_value: exactMatch Orphanet:165991

[Term]
id: MONDO:0012397
name: brachydactyly, coloboma, and anterior segment dysgenesis
synonym: "brachydactyly, coloboma, and anterior segment dysgenesis" EXACT [OMIM:610023]
xref: MESH:C566484 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610023 {source="MONDO:equivalentTo"}
xref: UMLS:C1864901 {source="OMIM:610023", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566484
property_value: exactMatch http://identifiers.org/omim/610023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864901

[Term]
id: MONDO:0012398
name: retinal cone dystrophy 3A
comment: Editor note: TODO logical defs for achromatopsias
subset: gard_rare {source="GARD:0010648"}
synonym: "achromatopsia 6" RELATED [OMIM:610024]
synonym: "cone dystrophy with night blindness and supernormal rod responses PDE6H-related" RELATED [GARD:0010648]
synonym: "cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related" RELATED [OMIM:610024]
synonym: "RCD3A" RELATED [MONDO:Lexical, OMIM:610024]
synonym: "retinal cone dystrophy 3A" EXACT [MONDO:Lexical, OMIM:610024]
synonym: "retinal cone dystrophy 3A; RCD3A" RELATED [OMIM:610024]
synonym: "retinal cone dystrophy type 3A" EXACT [MONDORULE:4, OMIM:610024]
xref: GARD:0010648 {source="MONDO:equivalentTo"}
xref: MESH:C566483 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610024 {source="MONDO:equivalentTo"}
xref: UMLS:C1864900 {source="NCBI:mim2gene_medline", source="OMIM:610024", source="MONDO:equivalentTo"}
is_a: MONDO:0018852 {source="MONDOLEX:0012398", source="ORDO:49382/btnt"} ! achromatopsia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552227
property_value: exactMatch http://identifiers.org/mesh/C566483
property_value: exactMatch http://identifiers.org/omim/610024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864900
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a xsd:anyURI {source="GARD:0010648"}

[Term]
id: MONDO:0012399
name: complex cortical dysplasia with other brain malformations 7
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:300573"}
synonym: "CDCBM7" EXACT [DOID:0090132]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [DOID:0090132, MONDORULE:1]
synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [OMIM:610031]
synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7; CDCBM7" RELATED [OMIM:610031]
synonym: "PMGYSA" RELATED [MONDO:Lexical, OMIM:610031]
synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132]
synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031]
synonym: "polymicrogyria, symmetric or asymmetric; PMGYSA" RELATED [OMIM:610031]
synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090132 {source="MONDO:equivalentTo"}
xref: GARD:10783 {source="DOID:0090132"}
xref: ICD10:Q04.3 {source="Orphanet:300573", source="DOID:0090132", source="ORDO:300573/attributed", source="ORDO:300573/ntbt"}
xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="ORDO:300573/e"}
xref: Orphanet:300573 {source="OMIM:610031", source="DOID:0090132", source="MONDO:equivalentTo"}
xref: UMLS:CN203403 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000904 {source="DOID:0090132", source="MONDO:Redundant", source="OMIM:610031"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0015159 {source="Orphanet:300573"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016162 {source="ORDO:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria
is_a: MONDO:0017120 {source="Orphanet:300573"} ! other syndrome with a central nervous system malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750247
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552236
property_value: exactMatch DOID:0090132
property_value: exactMatch http://identifiers.org/omim/610031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203403
property_value: exactMatch Orphanet:300573

[Term]
id: MONDO:0012400
name: cortical dysplasia-focal epilepsy syndrome
def: "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." [NCIT:C133743]
subset: ordo_disease {source="Orphanet:163681"}
synonym: "CDFE syndrome" EXACT [DOID:0090130]
synonym: "CDFE syndrome" RELATED [OMIM:610042]
synonym: "CDFES" EXACT [DOID:0090130, MONDO:Lexical, OMIM:610042]
synonym: "cortical dysplasia-focal epilepsy syndrome" EXACT [MONDO:Lexical, OMIM:610042]
synonym: "cortical dysplasia-focal epilepsy syndrome; CDFES" RELATED [OMIM:610042]
synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042]
synonym: "Pitt-Hopkins-like syndrome 1; PTHSL1" RELATED [OMIM:610042]
synonym: "PTHSL1" RELATED [OMIM:610042]
xref: DOID:0090130 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="ORDO:163681/attributed", source="ORDO:163681/ntbt"}
xref: NCIT:C133743 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:610042 {source="Orphanet:163681", source="DOID:0090130", source="ORDO:163681/e", source="MONDO:equivalentTo"}
xref: Orphanet:163681 {source="OMIM:610042", source="DOID:0090130", source="MONDO:equivalentTo"}
xref: UMLS:C1864887 {source="OMIM:610042", source="Orphanet:163681", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133743"}
is_a: MONDO:0015650 {source="Orphanet:163681"} ! epilepsy syndrome
is_a: MONDO:0016377 {source="MONDO:cjm"} ! Pitt-Hopkins-like syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750246
property_value: exactMatch DOID:0090130
property_value: exactMatch http://identifiers.org/omim/610042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864887
property_value: exactMatch NCIT:C133743
property_value: exactMatch Orphanet:163681

[Term]
id: MONDO:0012401
name: congenital stromal corneal dystrophy
def: "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." [Orphanet:101068]
subset: ordo_disease {source="Orphanet:101068"}
synonym: "congenital hereditary stromal dystrophy" EXACT [DOID:0060445, Orphanet:101068]
synonym: "congenital stromal corneal dystrophy" EXACT [OMIM:610048]
synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:610048]
synonym: "corneal dystrophy, congenital stromal; CSCD" RELATED [OMIM:610048]
synonym: "CSCD" EXACT [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068]
synonym: "Witschel dystrophy" EXACT [Orphanet:101068]
xref: DOID:0060445 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:101068", source="DOID:0060445", source="ORDO:101068/attributed", source="ORDO:101068/ntbt"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445", source="MONDO:ontobio"}
xref: OMIM:610048 {source="ORDO:101068/e", source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445"}
xref: Orphanet:101068 {source="MONDO:equivalentTo", source="DOID:0060445", source="OMIM:610048"}
xref: SCTID:702359002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1864738 {source="Orphanet:101068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610048"}
is_a: MONDO:0020213 {source="DOID:0060445", source="MONDOLEX:0012401", source="Orphanet:101068", source="linkedlifedata"} ! stromal corneal dystrophy
property_value: exactMatch DOID:0060445
property_value: exactMatch http://identifiers.org/mesh/C566452
property_value: exactMatch http://identifiers.org/omim/610048
property_value: exactMatch http://identifiers.org/snomedct/702359002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864738
property_value: exactMatch Orphanet:101068

[Term]
id: MONDO:0012402
name: opioid dependence, susceptibility to, 1
subset: predisposition
synonym: "Ods1" RELATED [OMIM:610064]
synonym: "opioid dependence, susceptibility to, 1" EXACT [OMIM:610064]
synonym: "opioid dependence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:610064]
xref: OMIM:610064 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864733
property_value: exactMatch http://identifiers.org/omim/610064

[Term]
id: MONDO:0012403
name: systemic lupus erythematosus, susceptibility to, 7
subset: predisposition
synonym: "SLEB7" EXACT [MONDO:Lexical, OMIM:610065]
synonym: "systemic lupus erythematosus, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610065]
synonym: "systemic lupus erythematosus, susceptibility to, 7; SLEB7" EXACT [OMIM:610065]
xref: OMIM:610065 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864732
property_value: exactMatch http://identifiers.org/omim/610065

[Term]
id: MONDO:0012404
name: systemic lupus erythematosus, susceptibility to, 8
subset: predisposition
synonym: "SLEB8" EXACT [MONDO:Lexical, OMIM:610066]
synonym: "systemic lupus erythematosus, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:610066]
synonym: "systemic lupus erythematosus, susceptibility to, 8; SLEB8" EXACT [OMIM:610066]
xref: OMIM:610066 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864731
property_value: exactMatch http://identifiers.org/omim/610066

[Term]
id: MONDO:0012405
name: polyposis syndrome, hereditary mixed, 2
def: "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMPR1A hereditary mixed polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary mixed polyposis syndrome caused by mutation in BMPR1A" EXACT [MONDO:design_pattern]
synonym: "HMPS2" RELATED [MONDO:Lexical, OMIM:610069]
synonym: "polyposis syndrome, hereditary mixed, 2" EXACT [MONDO:Lexical, OMIM:610069]
synonym: "polyposis syndrome, hereditary mixed, 2; HMPS2" RELATED [OMIM:610069]
synonym: "polyposis syndrome, hereditary mixed, type 2" EXACT [MONDORULE:1, OMIM:610069]
xref: MESH:C566451 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610069 {source="MONDO:equivalentTo"}
xref: UMLS:C1864730 {source="OMIM:610069", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011023 {source="MONDO:Redundant", source="ORDO:157794/btnt"} ! hereditary mixed polyposis syndrome
property_value: exactMatch http://identifiers.org/mesh/C566451
property_value: exactMatch http://identifiers.org/omim/610069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864730

[Term]
id: MONDO:0012406
name: HRPT3
synonym: "HRPT3" EXACT [MONDO:Lexical, OMIM:610071]
synonym: "hyperparathyroidism 3" RELATED [MONDO:Lexical, OMIM:610071]
synonym: "hyperparathyroidism 3; HRPT3" RELATED [OMIM:610071]
synonym: "hyperparathyroidism, familial isolated" RELATED [OMIM:610071]
xref: MESH:C566450 {source="MONDO:equivalentTo"}
xref: OMIM:610071 {source="MONDO:equivalentTo"}
xref: UMLS:C1864729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610071"}
is_a: MONDO:0015027 {source="ORDO:99879/btnt"} ! familial isolated hyperparathyroidism
property_value: exactMatch http://identifiers.org/mesh/C566450
property_value: exactMatch http://identifiers.org/omim/610071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864729

[Term]
id: MONDO:0012407
name: pyridoxal phosphate-responsive seizures
def: "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." [Orphanet:79096]
subset: ordo_disease {source="Orphanet:79096"}
synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [OMIM:610090]
synonym: "PNPO deficiency" EXACT [Orphanet:79096]
synonym: "Pnpo deficiency" RELATED [OMIM:610090]
synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [Orphanet:79096]
synonym: "PNPOD" RELATED [OMIM:610090]
synonym: "pyridoxal 5'-phosphate-dependent epilepsy" RELATED [GARD:0010730]
synonym: "pyridoxal phosphate-dependent seizures" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5'-phosphate oxidase deficiency" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" RELATED [OMIM:610090]
synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency; PNPOD" RELATED [OMIM:610090]
synonym: "pyridoxine 5' phosphate oxidase deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html]
synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730]
synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090]
xref: GARD:0010730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.8 {source="ORDO:79096/attributed", source="ORDO:79096/ntbt", source="Orphanet:79096"}
xref: MESH:C566449 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610090 {source="ORDO:79096/e", source="MONDO:equivalentTo", source="Orphanet:79096"}
xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"}
xref: SCTID:724576005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79096", source="OMIM:610090", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016404 {source="Orphanet:79096"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0017760 {source="Orphanet:79096"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0019058 {source="Orphanet:79096"} ! neurometabolic disease
is_a: MONDO:0019237 {source="Orphanet:79096"} ! inborn disorder of pyridoxine metabolism
is_a: MONDO:0100033 {source="MONDO:Redundant", source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C566449
property_value: exactMatch http://identifiers.org/omim/610090
property_value: exactMatch http://identifiers.org/snomedct/724576005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864723
property_value: exactMatch Orphanet:79096

[Term]
id: MONDO:0012408
name: microphthalmia, isolated, with coloboma 3
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB3" RELATED [MONDO:Lexical, OMIM:610092]
synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [OMIM:610092]
synonym: "microphthalmia, colobomatous, isolated 3" RELATED [OMIM:610092]
synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical, OMIM:610092]
synonym: "microphthalmia, isolated, with coloboma 3; MCOPCB3" RELATED [OMIM:610092]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in VSX2" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1, OMIM:610092]
synonym: "VSX2 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:610092 {source="MONDO:equivalentTo"}
xref: UMLS:C1864721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610092"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
is_a: MONDO:0012409 ! isolated microphthalmia 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864722
property_value: exactMatch http://identifiers.org/omim/610092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864721

[Term]
id: MONDO:0012409
name: isolated microphthalmia 2
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:610093]
synonym: "isolated microphthalmia caused by mutation in VSX2" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 2" EXACT [DOID:0060839, MONDORULE:1]
synonym: "MCOP2" EXACT [DOID:0060839, MONDO:Lexical, OMIM:610093]
synonym: "microphthalmia, isolated 2" RELATED [MONDO:Lexical, OMIM:610093]
synonym: "microphthalmia, isolated 2; MCOP2" RELATED [OMIM:610093]
synonym: "microphthalmia, isolated type 2" EXACT [MONDORULE:1, OMIM:610093]
synonym: "VSX2 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060839 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060839"}
xref: MESH:C566446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610093 {source="MONDO:equivalentTo", source="DOID:0060839"}
xref: UMLS:C1864720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610093"}
is_a: MONDO:0000062 {source="DC-OMIM:610093", source="MONDO:Redundant", source="MONDOLEX:0012409", source="OMIM:610093"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060839
property_value: exactMatch http://identifiers.org/mesh/C566446
property_value: exactMatch http://identifiers.org/omim/610093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864720

[Term]
id: MONDO:0012410
name: Finnish upper limb-onset distal myopathy
def: "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." [Orphanet:399086]
subset: ordo_disease {source="Orphanet:399086"}
synonym: "distal myopathy type 3" EXACT [Orphanet:399086]
synonym: "MPD3" EXACT [MONDO:Lexical, OMIM:610099, Orphanet:399086]
synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099]
synonym: "myopathy, distal, 3; MPD3" RELATED [OMIM:610099]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:399086", source="ORDO:399086/attributed", source="ORDO:399086/ntbt"}
xref: OMIM:610099 {source="MONDO:equivalentTo", source="Orphanet:399086", source="ORDO:399086/e"}
xref: Orphanet:399086 {source="OMIM:610099", source="MONDO:equivalentTo"}
xref: SCTID:763718009 {source="MONDO:equivalentTo"}
xref: UMLS:C1864706 {source="MEDGEN:kboom-pr98-c99", source="OMIM:610099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:399086"}
is_a: MONDO:0016108 {source="Orphanet:399086"} ! autosomal dominant distal myopathy
property_value: exactMatch http://identifiers.org/omim/610099
property_value: exactMatch http://identifiers.org/snomedct/763718009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864706
property_value: exactMatch Orphanet:399086

[Term]
id: MONDO:0012411
name: giant axonal neuropathy 2
def: "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:401964"}
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964]
synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964]
synonym: "CMT2 with giant axons" EXACT [Orphanet:401964]
synonym: "DCAF8 giant axonal neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GAN2" RELATED [MONDO:Lexical, OMIM:610100]
synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610100]
synonym: "giant axonal neuropathy 2, autosomal dominant; GAN2" RELATED [OMIM:610100]
synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:design_pattern]
synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1]
synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964]
xref: DOID:0090069 {source="MONDO:equivalentTo"}
xref: GARD:0012447 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:401964", source="ORDO:401964/attributed", source="ORDO:401964/ntbt"}
xref: OMIM:610100 {source="ORDO:401964/e", source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo"}
xref: Orphanet:401964 {source="OMIM:610100", source="MONDO:equivalentTo"}
xref: UMLS:C1864695 {source="OMIM:610100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN226146 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000128 {source="DC-OMIM:610100", source="MONDO:Redundant", source="MONDOLEX:0012411", source="OMIM:610100"} ! giant axonal neuropathy
is_a: MONDO:0018993 {source="Orphanet:401964"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0090069
property_value: exactMatch http://identifiers.org/omim/610100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226146
property_value: exactMatch Orphanet:401964

[Term]
id: MONDO:0012412
name: complement component 7 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C7 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C7 deficiency" RELATED [OMIM:610102]
synonym: "C7D" RELATED [MONDO:Lexical, OMIM:610102]
synonym: "classic complement early component deficiency caused by mutation in C7" EXACT [MONDO:design_pattern]
synonym: "complement component 7 deficiency" EXACT [MONDO:Lexical, OMIM:610102]
synonym: "complement component 7 deficiency; C7D" RELATED [OMIM:610102]
xref: DOID:0060300 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060300"}
xref: MESH:C566443 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610102 {source="DOID:0060300", source="MONDO:equivalentTo"}
xref: UMLS:C1864694 {source="OMIM:610102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000015 {source="DC-OMIM:610102", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: closeMatch Orphanet:1695150
property_value: exactMatch DOID:0060300
property_value: exactMatch http://identifiers.org/mesh/C566443
property_value: exactMatch http://identifiers.org/omim/610102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864694

[Term]
id: MONDO:0012413
name: syndromic microphthalmia type 5
def: "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." [Orphanet:178364]
subset: ordo_malformation_syndrome {source="Orphanet:178364"}
synonym: "MCOPS5" EXACT [MONDO:Lexical, OMIM:610125, Orphanet:178364]
synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692]
synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical, OMIM:610125]
synonym: "microphthalmia, syndromic 5; MCOPS5" RELATED [OMIM:610125]
synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1, OMIM:610125]
synonym: "OTX2 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OTX2-related eye disorders" RELATED [GARD:0003692]
synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [OMIM:610125]
synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:design_pattern]
synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364]
xref: GARD:0003692 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q11.2 {source="Orphanet:178364", source="ORDO:178364/attributed", source="ORDO:178364/ntbt"}
xref: MESH:C566441 {source="MONDO:equivalentTo"}
xref: OMIM:610125 {source="Orphanet:178364", source="ORDO:178364/e", source="MONDO:equivalentTo"}
xref: Orphanet:178364 {source="MONDO:equivalentTo", source="OMIM:610125"}
xref: SCTID:718761007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1864690 {source="Orphanet:178364", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610125", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4305151 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0016073 {source="DC-OMIM:610125", source="MONDO:Redundant", source="MONDOLEX:0012413", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149814
property_value: exactMatch http://identifiers.org/mesh/C566441
property_value: exactMatch http://identifiers.org/omim/610125
property_value: exactMatch http://identifiers.org/snomedct/718761007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305151
property_value: exactMatch Orphanet:178364

[Term]
id: MONDO:0012414
name: neuronal ceroid lipofuscinosis 10
def: "Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia , seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes ( mutations ) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10]
subset: gard_rare {source="GARD:0001218"}
subset: ordo_etiological_subtype {source="Orphanet:228337"}
synonym: "Cathepsin D deficiency" EXACT [DOID:0110725, Orphanet:228337]
synonym: "ceroid lipofuscinosis neuronal Cathepsin D-deficient" RELATED [GARD:0001218]
synonym: "ceroid lipofuscinosis, neuronal, 10" RELATED [MONDO:Lexical, OMIM:610127]
synonym: "ceroid lipofuscinosis, neuronal, 10; CLN10" RELATED [OMIM:610127]
synonym: "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient" RELATED [OMIM:610127]
synonym: "ceroid lipofuscinosis, neuronal, type 10" EXACT [MONDORULE:2, OMIM:610127]
synonym: "CLN10" EXACT [DOID:0110725, MONDO:Lexical, OMIM:610127]
synonym: "CLN10 disease" RELATED [Orphanet:228337]
synonym: "CLN10 disease, adult (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, congenital (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, juvenile (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, late infantile (subtype)" RELATED [GARD:0001218]
synonym: "CTSD neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [DOID:0110725]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSD" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [OMIM:610127]
synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725]
synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2]
synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127]
xref: DOID:0110725 {source="MONDO:equivalentTo"}
xref: GARD:0001218 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="Orphanet:228337", source="DOID:0110725", source="ORDO:228337/attributed", source="ORDO:228337/ntbt"}
xref: MESH:C566438 {source="MONDO:equivalentTo"}
xref: OMIM:610127 {source="Orphanet:228337", source="ORDO:228337/e", source="DOID:0110725", source="MONDO:equivalentTo"}
xref: Orphanet:228337 {source="DOID:0110725", source="MONDO:equivalentTo", source="OMIM:610127"}
xref: SCTID:720831008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.78/0.40/0.83"}
is_a: MONDO:0008956 {source="ORDO:168486/btnt", source="Orphanet:228337"} ! congenital neuronal ceroid lipofuscinosis
is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="ORDO:79262/btnt", source="Orphanet:228337"} ! adult neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228337"} ! juvenile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864669
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864670
property_value: exactMatch DOID:0110725
property_value: exactMatch http://identifiers.org/mesh/C566438
property_value: exactMatch http://identifiers.org/omim/610127
property_value: exactMatch http://identifiers.org/snomedct/720831008
property_value: exactMatch Orphanet:228337
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 xsd:anyURI {source="GARD:0001218"}

[Term]
id: MONDO:0012415
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEOA4" RELATED [MONDO:Lexical, OMIM:610131]
synonym: "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:610131]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; PEOA4" RELATED [OMIM:610131]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:610131]
synonym: "progressive external ophthalmoplegia, autosomal dominant 4" RELATED [OMIM:610131]
xref: MESH:C566437 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610131 {source="MONDO:equivalentTo"}
xref: UMLS:C1864668 {source="OMIM:610131", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008003 {source="MONDOLEX:0012415", source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/mesh/C566437
property_value: exactMatch http://identifiers.org/omim/610131
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864668

[Term]
id: MONDO:0012416
name: Devriendt syndrome
subset: gard_rare {source="GARD:0010052"}
synonym: "Devriendt syndrome" EXACT [OMIM:610136]
synonym: "severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism" RELATED [GARD:0010052]
xref: GARD:0010052 {source="MONDO:equivalentTo"}
xref: MESH:C535947 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610136 {source="MONDO:equivalentTo"}
xref: UMLS:C1857830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610136"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535947
property_value: exactMatch http://identifiers.org/omim/610136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857830
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome xsd:anyURI {source="GARD:0010052"}

[Term]
id: MONDO:0012417
name: heart-hand syndrome, Slovenian type
def: "Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." [Orphanet:168796]
subset: gard_rare {source="GARD:0009846"}
subset: ordo_malformation_syndrome {source="Orphanet:168796"}
synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796]
synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796]
synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140]
xref: GARD:0009846 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:168796", source="ORDO:168796/attributed", source="ORDO:168796/ntbt"}
xref: MESH:C535852 {source="Orphanet:168796", source="ORDO:168796/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610140 {source="Orphanet:168796", source="ORDO:168796/e", source="MONDO:equivalentTo"}
xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"}
xref: SCTID:721014007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C1857829 {source="Orphanet:168796", source="ORDO:168796/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610140"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016337 {source="Orphanet:168796"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0016432 {source="MONDO:cjm"} ! heart-hand syndrome
property_value: exactMatch http://identifiers.org/mesh/C535852
property_value: exactMatch http://identifiers.org/omim/610140
property_value: exactMatch http://identifiers.org/snomedct/721014007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857829
property_value: exactMatch Orphanet:168796
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type xsd:anyURI {source="GARD:0009846"}

[Term]
id: MONDO:0012418
name: autosomal recessive nonsyndromic deafness 62
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23." [DOID:0110514, PMID:16650082]
synonym: "autosomal recessive deafness 62" EXACT [DOID:0110514]
synonym: "autosomal recessive nonsyndromic deafness type 62" EXACT [DOID:0110514, MONDORULE:2]
synonym: "deafness, autosomal recessive 62" RELATED [MONDO:Lexical, OMIM:610143]
synonym: "deafness, autosomal recessive 62; DFNB62" RELATED [OMIM:610143]
synonym: "DFNB62" EXACT [DOID:0110514, MONDO:Lexical, OMIM:610143]
xref: DOID:0110514 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110514"}
xref: MESH:C565719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610143 {source="DOID:0110514", source="MONDO:equivalentTo"}
xref: UMLS:C1857820 {source="OMIM:610143", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610143", source="DOID:0110514", source="OMIM:610143"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110514
property_value: exactMatch http://identifiers.org/mesh/C565719
property_value: exactMatch http://identifiers.org/omim/610143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857820

[Term]
id: MONDO:0012419
name: age related macular degeneration 7
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 7" EXACT [DOID:0110019, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in HTRA1" EXACT [MONDO:design_pattern]
synonym: "ARMD7" EXACT [DOID:0110019, MONDO:Lexical, OMIM:610149]
synonym: "HTRA1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 7" RELATED [MONDO:Lexical, OMIM:610149]
synonym: "macular degeneration, age-related, 7; ARMD7" RELATED [OMIM:610149]
synonym: "macular Degeneration, age-related, neovascular type, susceptibility to" RELATED [OMIM:610149]
synonym: "macular Degeneration, age-related, type 7" EXACT [MONDORULE:1, OMIM:610149]
synonym: "macular Degeneration, age-related, wet type, susceptibility to" RELATED [OMIM:610149]
xref: DOID:0110019 {source="MONDO:equivalentTo"}
xref: MESH:C565718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610149 {source="DOID:0110019", source="MONDO:equivalentTo"}
xref: UMLS:C1857813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610149"}
is_a: MONDO:0005150 {source="DC-OMIM:610149", source="DOID:0110019", source="MONDO:Redundant", source="OMIM:610149"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857814
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857815
property_value: exactMatch DOID:0110019
property_value: exactMatch http://identifiers.org/mesh/C565718
property_value: exactMatch http://identifiers.org/omim/610149
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857813

[Term]
id: MONDO:0012420
name: autosomal recessive nonsyndromic deafness 49
def: "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." [NCIT:C129024]
synonym: "autosomal recessive deafness 49" EXACT [DOID:0110506]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 49" EXACT [DOID:0110506, MONDORULE:2]
synonym: "deafness, autosomal recessive 49" RELATED [MONDO:Lexical, OMIM:610153]
synonym: "deafness, autosomal recessive 49; DFNB49" RELATED [OMIM:610153]
synonym: "deafness, autosomal recessive type 49" EXACT [MONDORULE:2, OMIM:610153]
synonym: "DFNB49" EXACT [DOID:0110506, MONDO:Lexical, OMIM:610153]
synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110506 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110506"}
xref: MESH:C565717 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129024 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:610153 {source="MONDO:equivalentTo", source="DOID:0110506"}
xref: UMLS:C1857811 {source="OMIM:610153", source="NCIT:C129024", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610153", source="DOID:0110506", source="MONDO:Redundant", source="OMIM:610153"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110506
property_value: exactMatch http://identifiers.org/mesh/C565717
property_value: exactMatch http://identifiers.org/omim/610153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857811
property_value: exactMatch NCIT:C129024

[Term]
id: MONDO:0012421
name: autosomal recessive nonsyndromic deafness 44
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCY1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 44" EXACT [DOID:0110501]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 44" EXACT [DOID:0110501, MONDORULE:2]
synonym: "deafness, autosomal recessive 44" RELATED [MONDO:Lexical, OMIM:610154]
synonym: "deafness, autosomal recessive 44; DFNB44" RELATED [OMIM:610154]
synonym: "deafness, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:610154]
synonym: "DFNB44" EXACT [DOID:0110501, MONDO:Lexical, OMIM:610154]
xref: DOID:0110501 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110501"}
xref: MESH:C565716 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610154 {source="DOID:0110501", source="MONDO:equivalentTo"}
xref: UMLS:C1857809 {source="OMIM:610154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610154", source="DOID:0110501", source="MONDO:Redundant", source="OMIM:610154"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110501
property_value: exactMatch http://identifiers.org/mesh/C565716
property_value: exactMatch http://identifiers.org/omim/610154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857809

[Term]
id: MONDO:0012422
name: type 1 diabetes mellitus 19
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3." [DOID:0110756, PMID:16699517]
synonym: "diabetes mellitus, insulin-dependent, 19" RELATED [MONDO:Lexical, OMIM:610155]
synonym: "diabetes mellitus, insulin-dependent, 19; IDDM19" RELATED [OMIM:610155]
synonym: "IDDM19" EXACT [DOID:0110756, MONDO:Lexical, OMIM:610155]
synonym: "insulin-dependent diabetes mellitus 19" EXACT [DOID:0110756]
xref: DOID:0110756 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110756"}
xref: MESH:C565715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610155 {source="DOID:0110756", source="MONDO:equivalentTo"}
xref: UMLS:C1857808 {source="OMIM:610155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:610155", source="DOID:0110756", source="MESH:C565715", source="MONDOLEX:0012422"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110756
property_value: exactMatch http://identifiers.org/mesh/C565715
property_value: exactMatch http://identifiers.org/omim/610155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857808

[Term]
id: MONDO:0012423
name: MORM syndrome
def: "MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." [Orphanet:75858]
subset: gard_rare {source="GARD:0010121"}
subset: ordo_disease {source="Orphanet:75858"}
synonym: "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT [Orphanet:75858]
synonym: "mental retardation, truncal obesity, retinal dystrophy and micropenis" RELATED [GARD:0010121]
synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical, OMIM:610156]
synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome; MORMS" RELATED [OMIM:610156]
synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT [Orphanet:75858]
synonym: "MORM syndrome" EXACT [OMIM:610156]
synonym: "MORMS" RELATED [MONDO:Lexical, OMIM:610156]
xref: GARD:0010121 {source="MONDO:equivalentTo"}
xref: MESH:C536984 {source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858", source="MONDO:ontobio"}
xref: OMIM:610156 {source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858"}
xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"}
xref: SCTID:715628009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1857802 {source="NCBI:mim2gene_medline", source="OMIM:610156", source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016565 {source="Orphanet:75858"} ! syndromic genetic obesity
is_a: MONDO:0019118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:75858", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C536984
property_value: exactMatch http://identifiers.org/omim/610156
property_value: exactMatch http://identifiers.org/snomedct/715628009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857802
property_value: exactMatch Orphanet:75858
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome xsd:anyURI {source="GARD:0010121"}

[Term]
id: MONDO:0012424
name: heat-shock RNA 1
synonym: "heat-shock RNA 1" EXACT [OMIM:610157]
synonym: "heat-shock RNA type 1" EXACT [MONDORULE:1, OMIM:610157]
synonym: "Hsr1" RELATED [OMIM:610157]
xref: OMIM:610157 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857801
property_value: exactMatch http://identifiers.org/omim/610157

[Term]
id: MONDO:0012425
name: FECD2
synonym: "corneal dystrophy, Fuchs endothelial, 2" RELATED [MONDO:Lexical, OMIM:610158]
synonym: "corneal dystrophy, Fuchs endothelial, 2; FECD2" RELATED [OMIM:610158]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:610158]
synonym: "Fcd1 locus" RELATED [OMIM:610158]
synonym: "FECD2" EXACT [MONDO:Lexical, OMIM:610158]
xref: OMIM:610158 {source="MONDO:equivalentTo"}
xref: UMLS:C1857800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610158"}
is_a: MONDO:0005321 {source="DC-OMIM:610158", source="MONDOLEX:0012425", source="OMIM:610158"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/610158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857800

[Term]
id: MONDO:0012426
name: immunodeficiency 25
def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CD247 severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CD3zeta deficiency" EXACT [MONDO:0000571]
synonym: "IMD25" RELATED [MONDO:Lexical, OMIM:610163]
synonym: "immunodeficiency 25" EXACT [MONDO:Lexical, OMIM:610163]
synonym: "immunodeficiency 25; IMD25" RELATED [OMIM:610163]
synonym: "immunodeficiency due to defect in CD3-zeta" RELATED [OMIM:610163]
synonym: "immunodeficiency type 25" EXACT [MONDORULE:2, OMIM:610163]
synonym: "severe combined immunodeficiency (disease) caused by mutation in CD247" EXACT []
xref: DOID:0060007 {source="MONDO:equivalentTo"}
xref: MESH:C565712 {source="MONDO:equivalentTo"}
xref: OMIM:610163 {source="MONDO:equivalentTo"}
xref: UMLS:C1857798 {source="OMIM:610163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015703 {source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
property_value: exactMatch DOID:0060007
property_value: exactMatch http://identifiers.org/mesh/C565712
property_value: exactMatch http://identifiers.org/omim/610163
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857798

[Term]
id: MONDO:0012427
name: Loeys-Dietz syndrome 2
def: "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." [NCIT:C114768]
synonym: "aortic aneurysm, familial thoracic 3" RELATED [OMIM:610168]
synonym: "LDS2" RELATED [MONDO:Lexical, OMIM:610168]
synonym: "Loeys-Dietz syndrome 2" EXACT [MONDO:Lexical, OMIM:610168]
synonym: "Loeys-Dietz syndrome 2; LDS2" RELATED [OMIM:610168]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR2" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 2" EXACT [MONDORULE:1, OMIM:610168]
synonym: "Loeys-Dietz syndrome type II" EXACT [NCIT:C114768]
synonym: "Marfan syndrome, type II" RELATED [OMIM:610168]
synonym: "Marfan syndrome, type II, formerly" RELATED [OMIM:610168]
synonym: "TGFBR2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070234 {source="MONDO:equivalentTo"}
xref: GARD:0010586 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537783 {source="MONDO:equivalentTo"}
xref: NCIT:C114768 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: OMIM:610168 {source="MONDO:equivalentTo"}
is_a: MONDO:0018954 {source="DC-OMIM:610168", source="MESH:C537783", source="MONDO:Redundant", source="MONDOLEX:0012427", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674574
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674876
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3898580
property_value: exactMatch DOID:0070234
property_value: exactMatch http://identifiers.org/mesh/C537783
property_value: exactMatch http://identifiers.org/omim/610168
property_value: exactMatch NCIT:C114768

[Term]
id: MONDO:0012428
name: KYPSC1
synonym: "kyphoscoliosis 1" RELATED [MONDO:Lexical, OMIM:610170]
synonym: "kyphoscoliosis 1; KYPSC1" RELATED [OMIM:610170]
synonym: "KYPSC1" EXACT [MONDO:Lexical, OMIM:610170]
xref: MESH:C565711 {source="MONDO:equivalentTo"}
xref: OMIM:610170 {source="MONDO:equivalentTo"}
xref: UMLS:C1857795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610170"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565711
property_value: exactMatch http://identifiers.org/omim/610170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857795

[Term]
id: MONDO:0012429
name: Aicardi-Goutieres syndrome 2
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGS2" RELATED [MONDO:Lexical, OMIM:610181]
synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, OMIM:610181]
synonym: "Aicardi-Goutieres syndrome 2; AGS2" RELATED [OMIM:610181]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1, OMIM:610181]
synonym: "RNASEH2B Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RNASEH2B-related Aicardi-Goutieres syndrome" RELATED [GARD:0010894]
xref: GARD:0010894 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:610181 {source="MONDO:equivalentTo"}
xref: UMLS:C3489724 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610181"}
is_a: MONDO:0018866 {source="DC-OMIM:610181", source="MONDO:Redundant", source="OMIM:610181"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/omim/610181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489724

[Term]
id: MONDO:0012430
name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ2" RELATED [MONDO:Lexical, OMIM:610185]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" RELATED [OMIM:610185]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT [MONDO:Lexical, OMIM:610185]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; CAMRQ2" RELATED [OMIM:610185]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT [MONDORULE:1, OMIM:610185]
synonym: "dysequilibrium syndrome caused by mutation in WDR81" EXACT [MONDO:design_pattern]
synonym: "WDR81 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567656 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610185 {source="MONDO:equivalentTo"}
xref: UMLS:C2750234 {source="OMIM:610185", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:610185", source="ORDO:1766/btnt"} ! dysequilibrium syndrome
property_value: exactMatch http://identifiers.org/mesh/C567656
property_value: exactMatch http://identifiers.org/omim/610185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750234

[Term]
id: MONDO:0012431
name: diaphragmatic hernia 3
def: "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern]
synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187]
synonym: "diaphragmatic hernia 3; DIH3" RELATED [OMIM:610187]
synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187]
synonym: "DIH3" RELATED [MONDO:Lexical, OMIM:610187]
synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565710 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610187 {source="MONDO:equivalentTo"}
is_a: MONDO:0005711 {source="DC-OMIM:610187", source="MONDO:Redundant"} ! congenital diaphragmatic hernia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857781
property_value: exactMatch http://identifiers.org/mesh/C565710
property_value: exactMatch http://identifiers.org/omim/610187

[Term]
id: MONDO:0012432
name: Joubert syndrome 5
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS5" EXACT [DOID:0111000, MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome 5" EXACT [MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome 5; JBTS5" RELATED [OMIM:610188]
synonym: "Joubert syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 5" EXACT [DOID:0111000, MONDORULE:1, OMIM:610188]
xref: DOID:0111000 {source="MONDO:equivalentTo"}
xref: MESH:C537688 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610188 {source="MONDO:equivalentTo", source="DOID:0111000"}
xref: UMLS:C1857780 {source="OMIM:610188", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:610188", source="DOID:0111000", source="MONDO:Redundant", source="OMIM:610188"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0111000
property_value: exactMatch http://identifiers.org/mesh/C537688
property_value: exactMatch http://identifiers.org/omim/610188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857780

[Term]
id: MONDO:0012433
name: Senior-Loken syndrome 6
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 6" EXACT [MONDO:Lexical, OMIM:610189]
synonym: "SENIOR-Loken syndrome 6; SLSN6" RELATED [OMIM:610189]
synonym: "Senior-Loken syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1, OMIM:610189]
synonym: "SLSN6" RELATED [MONDO:Lexical, OMIM:610189]
xref: MESH:C565708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610189 {source="MONDO:equivalentTo"}
xref: UMLS:C1857779 {source="NCBI:mim2gene_medline", source="OMIM:610189", source="MONDO:equivalentTo"}
is_a: MONDO:0017842 {source="DC-OMIM:610189", source="MONDO:Redundant", source="OMIM:610189"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/mesh/C565708
property_value: exactMatch http://identifiers.org/omim/610189
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857779

[Term]
id: MONDO:0012434
name: arrhythmogenic right ventricular dysplasia 10
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [DOID:0110081, OMIM:610193]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 10" EXACT [DOID:0110081, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 10" RELATED [MONDO:Lexical, OMIM:610193]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 10; ARVD10" RELATED [OMIM:610193]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 10" EXACT [MONDORULE:2, OMIM:610193]
synonym: "ARVC10" EXACT [DOID:0110081]
synonym: "ARVD10" EXACT [DOID:0110081, MONDO:Lexical, OMIM:610193]
synonym: "DSG2 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [DOID:0110081]
xref: DOID:0110081 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110081"}
xref: MESH:C565707 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610193 {source="DOID:0110081", source="MONDO:equivalentTo"}
xref: UMLS:C1857777 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610193"}
is_a: MONDO:0017401 ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form
is_a: MONDO:0017402 ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form
is_a: MONDO:0017403 ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form
property_value: exactMatch DOID:0110081
property_value: exactMatch http://identifiers.org/mesh/C565707
property_value: exactMatch http://identifiers.org/omim/610193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857777

[Term]
id: MONDO:0012435
name: 3-methylglutaconic aciduria type 5
def: "Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." [Orphanet:66634]
subset: gard_rare
subset: ordo_disease {source="Orphanet:66634"}
synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344]
synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344]
synonym: "3-methylglutaconic aciduria caused by mutation in DNAJC19" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 5" EXACT [Orphanet:66634]
synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000]
synonym: "3-Methylglutaconic aciduria, type 5" RELATED [OMIM:610198]
synonym: "3-METHYLGLUTACONIC aciduria, type V" RELATED [MONDO:Lexical, OMIM:610198]
synonym: "3-METHYLGLUTACONIC aciduria, type V; MGCA5" RELATED [OMIM:610198]
synonym: "cardiomyopathy, dilated, with ataxia" RELATED [OMIM:610198]
synonym: "DCMA" EXACT [DOID:0110000]
synonym: "DCMA syndrome" EXACT [DOID:0110000, Orphanet:66634]
synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000]
synonym: "DNAJC19 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MGA 5" RELATED [GARD:0010344]
synonym: "MGA V" RELATED [GARD:0010344]
synonym: "Mga, type 5" RELATED [OMIM:610198]
synonym: "MGA5" EXACT [DOID:0110000, Orphanet:66634]
synonym: "MGCA5" EXACT [DOID:0110000, MONDO:Lexical, OMIM:610198]
xref: DOID:0110000 {source="MONDO:equivalentTo"}
xref: GARD:0010344 {source="MONDO:equivalentTo"}
xref: GARD:0012964 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.1 {source="Orphanet:66634", source="DOID:0110000", source="ORDO:66634/attributed", source="ORDO:66634/ntbt"}
xref: MESH:C565706 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610198 {source="ORDO:66634/e", source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="DOID:0110000"}
xref: Orphanet:66634 {source="OMIM:610198", source="MONDO:equivalentTo", source="DOID:0110000"}
xref: SCTID:711412004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1857776 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:66634", source="OMIM:610198", source="GARD:0010344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4039473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016337 {source="Orphanet:66634"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0017359 {source="DC-OMIM:610198", source="DOID:0110000", source="MONDO:Redundant", source="OMIM:610198", source="Orphanet:66634", source="linkedlifedata"} ! 3-methylglutaconic aciduria
property_value: exactMatch DOID:0110000
property_value: exactMatch http://identifiers.org/mesh/C565706
property_value: exactMatch http://identifiers.org/omim/610198
property_value: exactMatch http://identifiers.org/snomedct/711412004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4039473
property_value: exactMatch Orphanet:66634
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v xsd:anyURI {source="GARD:0010344"}

[Term]
id: MONDO:0012436
name: neonatal diabetes mellitus with congenital hypothyroidism
def: "encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome." [Orphanet:79118]
subset: ordo_disease {source="Orphanet:79118"}
synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [OMIM:610199]
synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism; NDH" RELATED [OMIM:610199]
synonym: "NDH" RELATED [OMIM:610199]
synonym: "NDH syndrome" EXACT [DOID:0060638]
synonym: "Ndh syndrome" RELATED [OMIM:610199]
synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118]
xref: DOID:0060638 {source="MONDO:equivalentTo"}
xref: MESH:C565705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="DOID:0060638", source="ORDO:79118/e"}
xref: Orphanet:79118 {source="OMIM:610199", source="MONDO:equivalentTo", source="DOID:0060638"}
xref: UMLS:C1857775 {source="OMIM:610199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016391 {source="DOID:0060638"} ! neonatal diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019741 {source="Orphanet:79118"} ! familial cystic renal disease
property_value: exactMatch DOID:0060638
property_value: exactMatch http://identifiers.org/mesh/C565705
property_value: exactMatch http://identifiers.org/omim/610199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857775
property_value: exactMatch Orphanet:79118

[Term]
id: MONDO:0012437
name: cataract 21 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 21 multiple types with or without microcornea" EXACT [DOID:0110256]
synonym: "cataract 21, multiple types" RELATED [MONDO:Lexical, OMIM:610202]
synonym: "cataract 21, multiple types, with or without microcornea" RELATED [OMIM:610202]
synonym: "cataract 21, multiple types; CTRCT21" RELATED [OMIM:610202]
synonym: "cataract, congenital, cerulean type, 4" RELATED [OMIM:610202]
synonym: "cataract, pulverulent, juvenile-onset" RELATED [OMIM:610202]
synonym: "CCA4" NARROW [DOID:0110256]
synonym: "congenital cataract cerulean type 4" NARROW [DOID:0110256]
synonym: "CTRCT21" EXACT [DOID:0110256, MONDO:Lexical, OMIM:610202]
synonym: "early-onset non-syndromic cataract caused by mutation in MAF" EXACT [MONDO:design_pattern]
synonym: "MAF early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110256 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110256"}
xref: MESH:C565703 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610202 {source="MONDO:equivalentTo", source="DOID:0110256"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857768
property_value: exactMatch DOID:0110256
property_value: exactMatch http://identifiers.org/mesh/C565703
property_value: exactMatch http://identifiers.org/omim/610202

[Term]
id: MONDO:0012438
name: pontocerebellar hypoplasia type 5
def: "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." [Orphanet:166068]
subset: gard_rare {source="GARD:0010709"}
subset: ordo_malformation_syndrome {source="Orphanet:166068"}
synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [Orphanet:166068]
synonym: "olivopontocerebellar hypoplasia fetal-onset" RELATED [GARD:0010709]
synonym: "olivopontocerebellar hypoplasia, fetal-onset" RELATED [OMIM:610204]
synonym: "PCH5" EXACT [MONDO:Lexical, OMIM:610204, Orphanet:166068]
synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204]
synonym: "pontocerebellar hypoplasia, type 5; PCH5" RELATED [OMIM:610204]
xref: DOID:0060274 {source="MONDO:equivalentTo"}
xref: GARD:0010709 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:166068", source="ORDO:166068/attributed", source="ORDO:166068/ntbt"}
xref: MESH:C537745 {source="DOID:0060274", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="ORDO:166068/e", source="MONDO:equivalentTo"}
xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentTo", source="OMIM:610204"}
xref: SCTID:718607001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.13"}
xref: UMLS:C1857762 {source="DOID:0060274", source="Orphanet:166068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610204"}
is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060274
property_value: exactMatch http://identifiers.org/mesh/C537745
property_value: exactMatch http://identifiers.org/omim/610204
property_value: exactMatch http://identifiers.org/snomedct/718607001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857762
property_value: exactMatch Orphanet:166068
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 xsd:anyURI {source="GARD:0010709"}

[Term]
id: MONDO:0012439
name: Alagille syndrome due to a NOTCH2 point mutation
subset: ordo_etiological_subtype {source="Orphanet:261629"}
synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical, OMIM:610205]
synonym: "Alagille syndrome 2; ALGS2" RELATED [OMIM:610205]
synonym: "Alagille syndrome type 2" EXACT [MONDORULE:1, OMIM:610205]
synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
synonym: "ALGS2" RELATED [MONDO:Lexical, OMIM:610205]
synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
xref: ICD10:Q44.7 {source="Orphanet:261629", source="ORDO:261629/attributed", source="ORDO:261629/ntbt"}
xref: OMIM:610205 {source="ORDO:261629/e", source="Orphanet:261629", source="MONDO:equivalentTo"}
xref: Orphanet:261629 {source="MONDO:equivalentTo", source="OMIM:610205"}
xref: UMLS:C1857761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610205"}
is_a: MONDO:0007318 {source="OMIM:610205", source="Orphanet:261629"} ! Alagille syndrome
property_value: exactMatch http://identifiers.org/omim/610205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857761
property_value: exactMatch Orphanet:261629

[Term]
id: MONDO:0012440
name: migraine with or without aura, susceptibility to, 10
subset: predisposition
synonym: "Mgr10" RELATED [OMIM:610208]
synonym: "migraine with or without aura, susceptibility to, 10" EXACT [OMIM:610208]
synonym: "migraine with or without aura, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:610208]
synonym: "migraine with pulsation" RELATED [OMIM:610208]
xref: OMIM:610208 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:610208"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857752
property_value: exactMatch http://identifiers.org/omim/610208

[Term]
id: MONDO:0012441
name: migraine with or without aura, susceptibility to, 11
subset: predisposition
synonym: "Mgr11" RELATED [OMIM:610209]
synonym: "migraine with or without aura, susceptibility to, 11" EXACT [OMIM:610209]
synonym: "migraine with or without aura, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:610209]
xref: OMIM:610209 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:610209"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857751
property_value: exactMatch http://identifiers.org/omim/610209

[Term]
id: MONDO:0012442
name: autosomal recessive nonsyndromic deafness 66
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 66" EXACT [DOID:0110517]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 66" EXACT [DOID:0110517, MONDORULE:2]
synonym: "DCDC2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 66" RELATED [MONDO:Lexical, OMIM:610212]
synonym: "deafness, autosomal recessive 66; DFNB66" RELATED [OMIM:610212]
synonym: "deafness, autosomal recessive type 66" EXACT [MONDORULE:2, OMIM:610212]
synonym: "DFNB66" EXACT [DOID:0110517, MONDO:Lexical, OMIM:610212]
xref: DOID:0110517 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110517"}
xref: MESH:C565701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610212 {source="MONDO:equivalentTo", source="DOID:0110517"}
xref: UMLS:C1857750 {source="OMIM:610212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610212", source="DOID:0110517", source="MONDO:Redundant", source="OMIM:610212"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110517
property_value: exactMatch http://identifiers.org/mesh/C565701
property_value: exactMatch http://identifiers.org/omim/610212
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857750

[Term]
id: MONDO:0012443
name: ANIB4
synonym: "aneurysm, intracranial BERRY, 4" RELATED [MONDO:Lexical, OMIM:610213]
synonym: "aneurysm, intracranial BERRY, 4; ANIB4" RELATED [OMIM:610213]
synonym: "ANIB4" EXACT [MONDO:Lexical, OMIM:610213]
xref: MESH:C565700 {source="MONDO:equivalentTo"}
xref: OMIM:610213 {source="MONDO:equivalentTo"}
xref: UMLS:C1857749 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610213"}
is_a: MONDO:0016483 {source="DC-OMIM:610213", source="OMIM:610213"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C565700
property_value: exactMatch http://identifiers.org/omim/610213
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857749

[Term]
id: MONDO:0012444
name: neurodegeneration with brain iron accumulation 2B
comment: NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset.
synonym: "atypical neuroaxonal dystrophy" RELATED [GARD:0010688]
synonym: "early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline" RELATED [GARD:0010688]
synonym: "Karak syndrome" RELATED [OMIM:610217]
synonym: "NBIA2B" RELATED [MONDO:Lexical, OMIM:610217]
synonym: "NBIA2b" EXACT [DOID:0110736]
synonym: "neuroaxonal dystrophy, atypical" EXACT [DOID:0110736, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation 2B" EXACT [MONDO:Lexical, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation 2B; NBIA2B" RELATED [OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation type 2B" EXACT [MONDORULE:4, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation type 2b" EXACT [DOID:0110736, MONDORULE:4]
synonym: "neurodegeneration with brain iron accumulation, Pla2G6-related" RELATED [OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation, Pla2g6-related" EXACT [DOID:0110736]
xref: DOID:0110736 {source="MONDO:equivalentTo"}
xref: GARD:0010688 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G23.0 {source="DOID:0110736"}
xref: OMIM:610217 {source="DOID:0110736", source="MONDO:equivalentTo"}
is_a: MONDO:0009739 {source="ORDO:35069/btnt"} ! infantile neuroaxonal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857747
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750220
property_value: exactMatch DOID:0110736
property_value: exactMatch http://identifiers.org/omim/610217

[Term]
id: MONDO:0012445
name: autosomal recessive nonsyndromic deafness 59
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: TODO check genes
synonym: "autosomal recessive deafness 59" EXACT [DOID:0110511]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 59" EXACT [DOID:0110511, MONDORULE:2]
synonym: "deafness, autosomal recessive 59" RELATED [MONDO:Lexical, OMIM:610220]
synonym: "deafness, autosomal recessive 59; DFNB59" RELATED [OMIM:610220]
synonym: "deafness, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:610220]
synonym: "DFNB59" EXACT [DOID:0110511, MONDO:Lexical, OMIM:610220]
synonym: "PJVK autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110511 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110511"}
xref: MESH:C565698 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610220 {source="DOID:0110511", source="MONDO:equivalentTo"}
xref: UMLS:C1857744 {source="OMIM:610220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610220", source="DOID:0110511", source="MONDO:Redundant", source="OMIM:610220"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110511
property_value: exactMatch http://identifiers.org/mesh/C565698
property_value: exactMatch http://identifiers.org/omim/610220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857744

[Term]
id: MONDO:0012446
name: seborrhea-like dermatitis with psoriasiform elements
subset: ordo_disease {source="Orphanet:168606"}
synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227]
xref: MESH:C565217 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610227 {source="MONDO:equivalentTo", source="Orphanet:168606", source="ORDO:168606/e"}
xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"}
xref: UMLS:C1853258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610227", source="Orphanet:168606"}
is_a: MONDO:0019274 {source="Orphanet:168606"} ! other epidermal disorder
property_value: exactMatch http://identifiers.org/mesh/C565217
property_value: exactMatch http://identifiers.org/omim/610227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853258
property_value: exactMatch Orphanet:168606

[Term]
id: MONDO:0012447
name: synpolydactyly type 3
subset: ordo_clinical_subtype {source="Orphanet:295199"}
synonym: "SD2, Malik type" EXACT [Orphanet:295199]
synonym: "SD2c" EXACT [Orphanet:295199]
synonym: "SPD, Malik type" EXACT [Orphanet:295199]
synonym: "SPD3" EXACT [MONDO:Lexical, OMIM:610234, Orphanet:295199]
synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234]
synonym: "synpolydactyly 3; SPD3" RELATED [OMIM:610234]
synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199]
xref: ICD10:Q70.0 {source="ORDO:295199/nd", source="Orphanet:295199", source="ORDO:295199/attributed"}
xref: ICD10:Q70.2 {source="ORDO:295199/nd", source="Orphanet:295199", source="ORDO:295199/attributed"}
xref: MESH:C565216 {source="MONDO:equivalentTo"}
xref: OMIM:610234 {source="Orphanet:295199", source="ORDO:295199/e", source="MONDO:equivalentTo"}
xref: Orphanet:295199 {source="OMIM:610234", source="MONDO:equivalentTo"}
xref: UMLS:C1853255 {source="OMIM:610234", source="Orphanet:295199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000722 {source="DC-OMIM:610234"} ! non-syndromic synpolydactyly
is_a: MONDO:0019683 {source="MONDOLEX:0012447", source="Orphanet:295199"} ! syndactyly type 2
property_value: exactMatch http://identifiers.org/mesh/C565216
property_value: exactMatch http://identifiers.org/omim/610234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853255
property_value: exactMatch Orphanet:295199

[Term]
id: MONDO:0012448
name: hereditary spastic paraplegia 33
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant spastic paraplegia 33" EXACT [DOID:0110784]
synonym: "hereditary spastic paraplegia caused by mutation in ZFYVE27" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 33" EXACT [DOID:0110784, MONDORULE:2]
synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610244]
synonym: "spastic paraplegia 33, autosomal dominant; SPG33" RELATED [OMIM:610244]
synonym: "SPG33" EXACT [DOID:0110784, MONDO:Lexical, OMIM:610244]
synonym: "ZFYVE27 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110784 {source="MONDO:equivalentTo"}
xref: MESH:C565214 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610244 {source="MONDO:equivalentTo", source="DOID:0110784"}
xref: UMLS:C1853251 {source="NCBI:mim2gene_medline", source="OMIM:610244", source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MESH:C565214", source="MONDO:Redundant", source="MONDOLEX:0012448", source="OMIM:610244"} ! hereditary spastic paraplegia
property_value: exactMatch DOID:0110784
property_value: exactMatch http://identifiers.org/mesh/C565214
property_value: exactMatch http://identifiers.org/omim/610244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853251

[Term]
id: MONDO:0012449
name: spinocerebellar ataxia type 23
def: "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." [Orphanet:101108]
subset: ordo_disease {source="Orphanet:101108"}
synonym: "SCA23" EXACT [MONDO:Lexical, OMIM:610245, Orphanet:101108]
synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245]
synonym: "spinocerebellar ataxia 23; SCA23" RELATED [OMIM:610245]
synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245]
xref: DOID:0050973 {source="MONDO:equivalentTo"}
xref: GARD:0009950 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="ORDO:101108/attributed", source="ORDO:101108/ntbt", source="Orphanet:101108"}
xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"}
xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"}
xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"}
xref: SCTID:718772002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1853250 {source="MEDGEN:kboom-pr98-c99", source="OMIM:610245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"}
xref: UMLS:C4305146 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:101108"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050973
property_value: exactMatch http://identifiers.org/mesh/C537201
property_value: exactMatch http://identifiers.org/omim/610245
property_value: exactMatch http://identifiers.org/snomedct/718772002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305146
property_value: exactMatch Orphanet:101108

[Term]
id: MONDO:0012450
name: spinocerebellar ataxia type 28
def: "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." [Orphanet:101109]
subset: ordo_disease {source="Orphanet:101109"}
synonym: "SCA28" EXACT [MONDO:Lexical, OMIM:610246, Orphanet:101109]
synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246]
synonym: "spinocerebellar ataxia 28; SCA28" RELATED [OMIM:610246]
synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246]
xref: DOID:0050977 {source="MONDO:equivalentTo"}
xref: GARD:0009951 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.1 {source="ORDO:101109/attributed", source="ORDO:101109/ntbt", source="Orphanet:101109"}
xref: MESH:C537205 {source="MONDO:equivalentTo", source="ORDO:101109/e", source="Orphanet:101109"}
xref: OMIM:610246 {source="MONDO:equivalentTo", source="DOID:0050977", source="ORDO:101109/e", source="Orphanet:101109"}
xref: Orphanet:101109 {source="MONDO:equivalentTo", source="OMIM:610246"}
xref: SCTID:715824008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1853249 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610246", source="ORDO:101109/e", source="Orphanet:101109"}
xref: UMLS:C4274988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:101109"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019792 {source="Orphanet:101109"} ! autosomal dominant cerebellar ataxia type I
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050977
property_value: exactMatch http://identifiers.org/mesh/C537205
property_value: exactMatch http://identifiers.org/omim/610246
property_value: exactMatch http://identifiers.org/snomedct/715824008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274988
property_value: exactMatch Orphanet:101109

[Term]
id: MONDO:0012451
name: EOE1
synonym: "EOE1" EXACT [MONDO:Lexical, OMIM:610247]
synonym: "esophagitis, eosinophilic" RELATED [OMIM:610247]
synonym: "esophagitis, eosinophilic, 1" RELATED [MONDO:Lexical, OMIM:610247]
synonym: "esophagitis, eosinophilic, 1; EOE1" RELATED [OMIM:610247]
xref: OMIM:610247 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005361 {source="DC-OMIM:610247", source="MONDOLEX:0012451"} ! eosinophilic esophagitis
property_value: exactMatch http://identifiers.org/omim/610247

[Term]
id: MONDO:0012452
name: autosomal recessive nonsyndromic deafness 65
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3." [DOID:0110516, PMID:16596430]
synonym: "autosomal recessive deafness 65" EXACT [DOID:0110516]
synonym: "autosomal recessive nonsyndromic deafness type 65" EXACT [DOID:0110516, MONDORULE:2]
synonym: "deafness, autosomal recessive 65" RELATED [MONDO:Lexical, OMIM:610248]
synonym: "deafness, autosomal recessive 65; DFNB65" RELATED [OMIM:610248]
synonym: "DFNB65" EXACT [DOID:0110516, MONDO:Lexical, OMIM:610248]
xref: DOID:0110516 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110516"}
xref: MESH:C565211 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610248 {source="DOID:0110516", source="MONDO:equivalentTo"}
xref: UMLS:C1853248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610248"}
is_a: MONDO:0019588 {source="DC-OMIM:610248", source="DOID:0110516", source="OMIM:610248"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110516
property_value: exactMatch http://identifiers.org/mesh/C565211
property_value: exactMatch http://identifiers.org/omim/610248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853248

[Term]
id: MONDO:0012453
name: hereditary spastic paraplegia 31
def: "30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." [Orphanet:101011]
subset: ordo_disease {source="Orphanet:101011"}
synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782]
synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782]
synonym: "hereditary spastic paraplegia caused by mutation in REEP1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 31" EXACT [DOID:0110782, MONDORULE:2]
synonym: "REEP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 31" RELATED [GARD:0010817]
synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250]
synonym: "spastic paraplegia 31, autosomal dominant; SPG31" RELATED [OMIM:610250]
synonym: "SPG31" EXACT [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011]
xref: DOID:0110782 {source="MONDO:equivalentTo"}
xref: GARD:0010817 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:101011", source="DOID:0110782", source="ORDO:101011/attributed", source="ORDO:101011/ntbt"}
xref: MESH:C565210 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="DOID:0110782", source="ORDO:101011/e"}
xref: Orphanet:101011 {source="MONDO:equivalentTo", source="DOID:0110782", source="OMIM:610250"}
xref: SCTID:763068005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853247 {source="Orphanet:101011", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610250", source="ORDO:101011/e"}
is_a: MONDO:0017914 {source="Orphanet:101011"} ! pure or complex autosomal dominant spastic paraplegia
property_value: exactMatch DOID:0110782
property_value: exactMatch http://identifiers.org/mesh/C565210
property_value: exactMatch http://identifiers.org/omim/610250
property_value: exactMatch http://identifiers.org/snomedct/763068005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853247
property_value: exactMatch Orphanet:101011

[Term]
id: MONDO:0012454
name: alcohol sensitivity, acute
def: "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." [https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity]
subset: gard_rare {source="GARD:0012634"}
synonym: "acute alcohol sensitivity" RELATED [GARD:0012634]
synonym: "alcohol intolerance" RELATED [GARD:0012634]
synonym: "alcohol sensitivity, acute" EXACT [OMIM:610251]
synonym: "Hangover, susceptibility to" RELATED [OMIM:610251]
xref: GARD:0012634 {source="MONDO:equivalentTo"}
xref: OMIM:610251 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021698 {source="OMIM:610251"} ! alcohol-related disorders
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608086
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674838
property_value: exactMatch http://identifiers.org/omim/610251
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity xsd:anyURI {source="GARD:0012634"}

[Term]
id: MONDO:0012455
name: Kleefstra syndrome
def: "Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." [Orphanet:261494]
subset: gard_rare {source="GARD:0008672"}
subset: ordo_malformation_syndrome {source="Orphanet:261494"}
subset: prototype_pattern
synonym: "9Q subtelomeric deletion syndrome" RELATED [OMIM:610253]
synonym: "9q subtelomeric deletion syndrome" EXACT EXCLUDE [DOID:0060352]
synonym: "9Q- syndrome" RELATED [OMIM:610253]
synonym: "9q-syndrome" EXACT [DOID:0060352]
synonym: "9q34 deletion syndrome" EXACT [DOID:0060352]
synonym: "9q34.3 microdeletion syndrome" RELATED [GARD:0008672]
synonym: "chromosome 9q deletion syndrome" RELATED [GARD:0008672]
synonym: "chromosome 9Q34.3 deletion syndrome" RELATED [OMIM:610253]
synonym: "Kleefstra syndrome" EXACT [OMIM:610253]
xref: DOID:0060352 {source="MONDO:equivalentTo"}
xref: GARD:0008672 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:261494", source="ORDO:261494/attributed", source="ORDO:261494/ntbt"}
xref: MESH:C563043 {source="DOID:0060352", source="MONDO:equivalentTo"}
xref: NCIT:C129976 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:610253 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"}
xref: SCTID:724207001 {source="MONDO:equivalentTo"}
xref: UMLS:C0795833 {source="DOID:0060352", source="MEDGEN:kboom-pr98-c99", source="OMIM:610253", source="NCBI:mim2gene_medline", source="Orphanet:261494", source="MONDO:equivalentTo", source="NCIT:C129976"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:261494", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:261494"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch DOID:0060352
property_value: exactMatch http://identifiers.org/mesh/C563043
property_value: exactMatch http://identifiers.org/snomedct/724207001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795833
property_value: exactMatch NCIT:C129976
property_value: exactMatch Orphanet:261494
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome xsd:anyURI {source="GARD:0008672"}

[Term]
id: MONDO:0012456
name: congenital primary aphakia
def: "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." [Orphanet:83461]
subset: ordo_malformation_syndrome {source="Orphanet:83461"}
synonym: "anterior segment dysgenesis 2" RELATED [OMIM:610256]
synonym: "anterior segment dysgenesis 2; ASGD2" RELATED [OMIM:610256]
synonym: "aphakia, congenital primary" EXACT [DOID:11367, OMIM:610256]
synonym: "ASGD2" RELATED [OMIM:610256]
synonym: "congenital absence of lens" EXACT [DOID:11367]
synonym: "congenital aphakia" EXACT [Orphanet:83461]
synonym: "CPA" RELATED [OMIM:610256]
xref: DOID:11367 {source="MONDO:equivalentTo"}
xref: GARD:0009952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="ORDO:83461/specific", source="ORDO:83461/e", source="DOID:11367"}
xref: ICD9:743.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:11367"}
xref: MedDRA:10002947 {source="Orphanet:83461", source="ORDO:83461/e"}
xref: MESH:C537786 {source="Orphanet:83461", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:83461/e"}
xref: NCIT:C35172 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11367"}
xref: OMIM:610256 {source="Orphanet:83461", source="MONDO:equivalentTo", source="ORDO:83461/e", source="DOID:11367"}
xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"}
xref: SCTID:35387008 {source="MONDO:equivalentTo", source="DOID:11367", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lens disease
is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152422
property_value: exactMatch DOID:11367
property_value: exactMatch http://identifiers.org/meddra/10002947
property_value: exactMatch http://identifiers.org/mesh/C537786
property_value: exactMatch http://identifiers.org/omim/610256
property_value: exactMatch http://identifiers.org/snomedct/35387008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853230
property_value: exactMatch NCIT:C35172
property_value: exactMatch Orphanet:83461

[Term]
id: MONDO:0012457
name: IHPS2
synonym: "IHPS2" EXACT [MONDO:Lexical, OMIM:610260]
synonym: "pyloric stenosis, infantile hypertrophic, 2" RELATED [MONDO:Lexical, OMIM:610260]
synonym: "pyloric stenosis, infantile hypertrophic, 2; IHPS2" RELATED [OMIM:610260]
xref: MESH:C565208 {source="MONDO:equivalentTo"}
xref: OMIM:610260 {source="MONDO:equivalentTo"}
xref: UMLS:C1853228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610260"}
is_a: MONDO:0001560 {source="DC-OMIM:610260", source="MESH:C565208", source="MONDOLEX:0012457", source="OMIM:610260"} ! hypertrophic pyloric stenosis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565208
property_value: exactMatch http://identifiers.org/omim/610260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853228

[Term]
id: MONDO:0012458
name: hypertension, essential, susceptibility to, 5
subset: predisposition
synonym: "hypertension, essential, body Mass-related" RELATED [OMIM:610261]
synonym: "hypertension, essential, susceptibility to, 5" EXACT [OMIM:610261]
synonym: "hypertension, essential, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:610261]
synonym: "Hyt5" RELATED [OMIM:610261]
xref: OMIM:610261 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0012458", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853227
property_value: exactMatch http://identifiers.org/omim/610261

[Term]
id: MONDO:0012459
name: hypertension, essential, susceptibility to, 6
subset: predisposition
synonym: "hypertension, essential, kidney function-related" RELATED [OMIM:610262]
synonym: "hypertension, essential, susceptibility to, 6" EXACT [OMIM:610262]
synonym: "hypertension, essential, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:610262]
synonym: "Hyt6" RELATED [OMIM:610262]
xref: OMIM:610262 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0012459", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853226
property_value: exactMatch http://identifiers.org/omim/610262

[Term]
id: MONDO:0012460
name: autosomal recessive nonsyndromic deafness 67
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 67" EXACT [DOID:0110518]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 67" EXACT [DOID:0110518, MONDORULE:2]
synonym: "deafness, autosomal recessive 67" RELATED [MONDO:Lexical, OMIM:610265]
synonym: "deafness, autosomal recessive 67; DFNB67" RELATED [OMIM:610265]
synonym: "deafness, autosomal recessive type 67" EXACT [MONDORULE:2, OMIM:610265]
synonym: "DFNB67" EXACT [DOID:0110518, MONDO:Lexical, OMIM:610265]
synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110518 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110518"}
xref: MESH:C565207 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610265 {source="DOID:0110518", source="MONDO:equivalentTo"}
xref: UMLS:C1853223 {source="OMIM:610265", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:610265", source="DOID:0110518", source="MONDO:Redundant", source="OMIM:610265"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110518
property_value: exactMatch http://identifiers.org/mesh/C565207
property_value: exactMatch http://identifiers.org/omim/610265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853223

[Term]
id: MONDO:0012461
name: bulimia nervosa, susceptibility to, 2
subset: predisposition
synonym: "anorexia nervosa, susceptibility to, 2" RELATED [OMIM:610269]
synonym: "bulimia nervosa, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:610269]
synonym: "bulimia nervosa, susceptibility to, 2; BULN2" RELATED [OMIM:610269]
synonym: "bulimia nervosa, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:610269]
synonym: "BULN2" RELATED [MONDO:Lexical, OMIM:610269]
synonym: "moved to 607499 and 606788" RELATED [OMIM:610269]
synonym: "susceptibility to bulimia nervosa 2" RELATED [OMIM:610269]
xref: OMIM:610269 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005452 ! bulimia nervosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853220
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853221
property_value: exactMatch http://identifiers.org/omim/610269

[Term]
id: MONDO:0012462
name: autosomal recessive frontotemporal pachygyria
subset: ordo_malformation_syndrome {source="Orphanet:329329"}
synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279]
xref: GARD:0010003 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="Orphanet:329329", source="ORDO:329329/attributed", source="ORDO:329329/ntbt"}
xref: MESH:C538092 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610279 {source="MONDO:equivalentTo"}
xref: Orphanet:329329 {source="MONDO:equivalentTo"}
xref: UMLS:C1853215 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:329329", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610279"}
is_a: MONDO:0015572 {source="Orphanet:329329"} ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch http://identifiers.org/mesh/C538092
property_value: exactMatch http://identifiers.org/omim/610279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853215
property_value: exactMatch Orphanet:329329

[Term]
id: MONDO:0012463
name: retinitis pigmentosa 35
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010402"}
synonym: "retinitis pigmentosa 35" EXACT [MONDO:Lexical, OMIM:610282]
synonym: "retinitis pigmentosa 35; RP35" RELATED [OMIM:610282]
synonym: "retinitis pigmentosa caused by mutation in SEMA4A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 35" EXACT [DOID:0110357, MONDORULE:2, OMIM:610282]
synonym: "RP 35" RELATED [GARD:0010402]
synonym: "RP35" EXACT [DOID:0110357, MONDO:Lexical, OMIM:610282]
synonym: "SEMA4A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110357 {source="MONDO:equivalentTo"}
xref: GARD:0010402 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110357", source="MONDO:relatedTo"}
xref: MESH:C565206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610282 {source="DOID:0110357", source="MONDO:equivalentTo"}
xref: UMLS:C1853214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610282"}
is_a: MONDO:0019200 {source="DC-OMIM:610282", source="DOID:0110357", source="MESH:C565206", source="MONDO:Redundant", source="OMIM:610282"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110357
property_value: exactMatch http://identifiers.org/mesh/C565206
property_value: exactMatch http://identifiers.org/omim/610282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853214
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35 xsd:anyURI {source="GARD:0010402"}

[Term]
id: MONDO:0012464
name: cone-rod dystrophy 10
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 10" EXACT [MONDO:Lexical, OMIM:610283]
synonym: "cone-rod dystrophy 10; CORD10" RELATED [OMIM:610283]
synonym: "cone-rod dystrophy caused by mutation in SEMA4A" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 10" EXACT [DOID:0111017, MONDORULE:2, OMIM:610283]
synonym: "CORD10" EXACT [DOID:0111017, MONDO:Lexical, OMIM:610283]
synonym: "SEMA4A cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111017 {source="MONDO:equivalentTo"}
xref: MESH:C564597 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610283 {source="DOID:0111017", source="MONDO:equivalentTo"}
xref: UMLS:C1846529 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610283"}
is_a: MONDO:0015993 {source="DC-OMIM:610283", source="DOID:0111017", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111017
property_value: exactMatch http://identifiers.org/mesh/C564597
property_value: exactMatch http://identifiers.org/omim/610283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846529

[Term]
id: MONDO:0012465
name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
def: "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." [Orphanet:83639]
subset: gard_rare {source="GARD:0009965"}
subset: ordo_disease {source="Orphanet:83639"}
synonym: "congenital disorder of glycosylation due to PIGM deficiency" RELATED [GARD:0009965]
synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [OMIM:610293]
synonym: "glycosylphosphatidylinositol deficiency" RELATED [OMIM:610293]
synonym: "glycosylphosphatidylinositol deficiency; GPID" RELATED [OMIM:610293]
synonym: "GPI deficiency" RELATED [OMIM:610293]
synonym: "GPID" RELATED [OMIM:610293]
synonym: "PIGM-CDG" EXACT [Orphanet:83639]
xref: GARD:0009965 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:83639/attributed", source="ORDO:83639/ntbt", source="Orphanet:83639"}
xref: OMIM:610293 {source="MONDO:equivalentTo", source="ORDO:83639/e", source="Orphanet:83639"}
xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"}
xref: SCTID:724344004 {source="MONDO:equivalentTo"}
xref: UMLS:C1853205 {source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:83639", source="OMIM:610293"}
xref: UMLS:C4510605 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016633 {source="Orphanet:83639"} ! thrombotic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0017748 {source="Orphanet:83639"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018287 {source="Orphanet:83639"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/610293
property_value: exactMatch http://identifiers.org/snomedct/724344004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510605
property_value: exactMatch Orphanet:83639
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency xsd:anyURI {source="GARD:0009965"}

[Term]
id: MONDO:0012466
name: Parkinson disease 13, autosomal dominant, susceptibility to
def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HTRA2 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK13" RELATED [MONDO:Lexical, OMIM:610297]
synonym: "Parkinson disease 13, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:610297]
synonym: "Parkinson disease 13, autosomal dominant, susceptibility to; PARK13" RELATED [OMIM:610297]
synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [OMIM:610297]
synonym: "young-onset Parkinson disease caused by mutation in HTRA2" EXACT [MONDO:design_pattern]
xref: MESH:C565204 {source="MONDO:equivalentTo"}
xref: OMIM:610297 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005180 ! Parkinson disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853202
property_value: exactMatch http://identifiers.org/mesh/C565204
property_value: exactMatch http://identifiers.org/omim/610297

[Term]
id: MONDO:0012467
name: cold-induced sweating syndrome 2
def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CISS2" RELATED [MONDO:Lexical, OMIM:610313]
synonym: "CLCF1 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cold-induced sweating syndrome 2" EXACT [MONDO:Lexical, OMIM:610313]
synonym: "cold-induced sweating syndrome 2; CISS2" RELATED [OMIM:610313]
synonym: "cold-induced sweating syndrome caused by mutation in CLCF1" EXACT [MONDO:design_pattern]
synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1, OMIM:610313]
synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [OMIM:610313]
synonym: "CRISPONI/cold-induced sweating syndrome 2; CISS2" RELATED [OMIM:610313]
xref: DOID:0080330 {source="MONDO:equivalentTo"}
xref: MESH:C564791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610313 {source="DOID:0080330", source="MONDO:equivalentTo"}
xref: UMLS:C1853198 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610313"}
is_a: MONDO:0015526 {source="DC-OMIM:610313", source="DOID:0080330", source="MONDO:Redundant", source="OMIM:610313"} ! cold-induced sweating syndrome
property_value: exactMatch DOID:0080330
property_value: exactMatch http://identifiers.org/mesh/C564791
property_value: exactMatch http://identifiers.org/omim/610313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853198

[Term]
id: MONDO:0012468
name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
subset: gard_rare {source="GARD:0009968"}
synonym: "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" EXACT [OMIM:610319]
xref: GARD:0009968 {source="MONDO:equivalentTo"}
xref: MESH:C537610 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610319 {source="MONDO:equivalentTo"}
xref: UMLS:C1853197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610319"}
is_a: MONDO:0003847 {source="MESH:C537610/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C537610
property_value: exactMatch http://identifiers.org/omim/610319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853197
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa xsd:anyURI {source="GARD:0009968"}

[Term]
id: MONDO:0012469
name: MYP14
synonym: "myopia 14" RELATED [MONDO:Lexical, OMIM:610320]
synonym: "myopia 14; MYP14" RELATED [OMIM:610320]
synonym: "MYP14" EXACT [MONDO:Lexical, OMIM:610320]
xref: MESH:C565202 {source="MONDO:equivalentTo"}
xref: OMIM:610320 {source="MONDO:equivalentTo"}
xref: UMLS:C1853196 {source="OMIM:610320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:610320", source="MESH:C565202", source="OMIM:610320"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C565202
property_value: exactMatch http://identifiers.org/omim/610320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853196

[Term]
id: MONDO:0012470
name: HPC7
synonym: "HPC7" EXACT [MONDO:Lexical, OMIM:610321]
synonym: "prostate cancer aggressiveness" RELATED [OMIM:610321]
synonym: "prostate cancer, hereditary, 7" RELATED [MONDO:Lexical, OMIM:610321]
synonym: "prostate cancer, hereditary, 7; HPC7" RELATED [OMIM:610321]
xref: MESH:C565201 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610321 {source="MONDO:equivalentTo"}
xref: UMLS:C1853195 {source="NCBI:mim2gene_medline", source="OMIM:610321", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDOLEX:0012470"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C565201
property_value: exactMatch http://identifiers.org/omim/610321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853195

[Term]
id: MONDO:0012471
name: Aicardi-Goutieres syndrome 3
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGS3" RELATED [MONDO:Lexical, OMIM:610329]
synonym: "Aicardi-Goutieres syndrome 3" EXACT [MONDO:Lexical, OMIM:610329]
synonym: "Aicardi-Goutieres syndrome 3; AGS3" RELATED [OMIM:610329]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1, OMIM:610329]
synonym: "RNASEH2C -related Aicardi-Goutieres syndrome" RELATED [GARD:0010895]
synonym: "RNASEH2C Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010895 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563683 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610329 {source="MONDO:equivalentTo"}
xref: UMLS:C1835916 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610329"}
is_a: MONDO:0018866 {source="DC-OMIM:610329", source="MONDO:Redundant", source="OMIM:610329"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/mesh/C563683
property_value: exactMatch http://identifiers.org/omim/610329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835916

[Term]
id: MONDO:0012472
name: Aicardi-Goutieres syndrome 4
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGS4" RELATED [MONDO:Lexical, OMIM:610333]
synonym: "Aicardi-Goutieres syndrome 4" EXACT [MONDO:Lexical, OMIM:610333]
synonym: "Aicardi-Goutieres syndrome 4; AGS4" RELATED [OMIM:610333]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1, OMIM:610333]
synonym: "RNASEH2A Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RNASEH2A-related Aicardi-Goutieres syndrome" RELATED [GARD:0010896]
xref: GARD:0010896 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610333 {source="MONDO:equivalentTo"}
xref: UMLS:C1835912 {source="OMIM:610333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018866 {source="DC-OMIM:610333", source="MONDO:Redundant", source="OMIM:610333"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/mesh/C563681
property_value: exactMatch http://identifiers.org/omim/610333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835912

[Term]
id: MONDO:0012473
name: right pulmonary artery, anomalous origin of, familial
subset: gard_rare {source="GARD:0010146"}
synonym: "anomalous origin of right pulmonary artery familial" RELATED [GARD:0010146]
synonym: "ARPA familial" RELATED [GARD:0010146]
synonym: "Arpa, familial" RELATED [OMIM:610338]
synonym: "familial anomalous origin of right pulmonary artery" RELATED [GARD:0010146]
synonym: "familial ARPA" RELATED [GARD:0010146]
synonym: "right pulmonary artery, anomalous origin of, familial" EXACT [OMIM:610338]
synonym: "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus" RELATED [OMIM:610338]
xref: GARD:0010146 {source="MONDO:equivalentTo"}
xref: MESH:C535681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610338 {source="MONDO:equivalentTo"}
xref: UMLS:C1835910 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610338"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C535681
property_value: exactMatch http://identifiers.org/omim/610338
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835910
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial xsd:anyURI {source="GARD:0010146"}

[Term]
id: MONDO:0012474
name: autosomal dominant nocturnal frontal lobe epilepsy 4
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [DOID:0060685, MONDORULE:1]
synonym: "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "convulsions, benign familial infantile, 6" RELATED [OMIM:610353]
synonym: "ENFL4" EXACT [DOID:0060685, MONDO:Lexical, OMIM:610353]
synonym: "epilepsy, familial, with nocturnal wandering and Ictal fear" RELATED [OMIM:610353]
synonym: "epilepsy, nocturnal frontal lobe, 4" RELATED [MONDO:Lexical, OMIM:610353]
synonym: "epilepsy, nocturnal frontal lobe, 4; ENFL4" RELATED [OMIM:610353]
synonym: "epilepsy, nocturnal frontal lobe, type 4" EXACT [MONDORULE:1, OMIM:610353]
synonym: "nocturnal frontal lobe epilepsy 4" EXACT [DOID:0060685]
synonym: "seizures, benign familial infantile, 6" RELATED [OMIM:610353]
xref: DOID:0060685 {source="MONDO:equivalentTo"}
xref: MESH:C563679 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610353 {source="DOID:0060685", source="MONDO:equivalentTo"}
xref: UMLS:C1835905 {source="OMIM:610353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000030 {source="DC-OMIM:610353", source="OMIM:610353"} ! epilepsy, nocturnal frontal lobe
is_a: MONDO:0020300 {source="DOID:0060685", source="MONDO:Redundant", source="MONDOLEX:0012474"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: exactMatch DOID:0060685
property_value: exactMatch http://identifiers.org/mesh/C563679
property_value: exactMatch http://identifiers.org/omim/610353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835905

[Term]
id: MONDO:0012475
name: cone dystrophy with supernormal rod response
def: "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." [Orphanet:209932]
subset: ordo_disease {source="Orphanet:209932"}
synonym: "cone dystrophy with night blindness and supernormal rod responses KCNV2 related" RELATED [GARD:0010649]
synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [OMIM:610356]
synonym: "cone dystrophy with supernormal rod electroretinogram" EXACT [Orphanet:209932]
synonym: "cone dystrophy with supernormal rod ERG" EXACT [Orphanet:209932]
synonym: "cone dystrophy with supernormal Rod responses" RELATED [OMIM:610356]
synonym: "cone dystrophy with supernormal scotopic electroretinogram" EXACT [Orphanet:209932]
synonym: "RCD3B" RELATED [MONDO:Lexical, OMIM:610356]
synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356]
synonym: "retinal cone dystrophy 3B; RCD3B" RELATED [OMIM:610356]
synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356]
xref: GARD:0010649 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H35.5 {source="MONDO:subClassOf", source="ORDO:209932/attributed", source="ORDO:209932/ntbt", source="Orphanet:209932"}
xref: MESH:C563678 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610356 {source="MONDO:equivalentTo", source="Orphanet:209932", source="ORDO:209932/e"}
xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"}
xref: SCTID:719455002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1835897 {source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610356"}
xref: UMLS:C4304714 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000455 {source="DC-OMIM:610356", source="linkedlifedata"} ! cone dystrophy
property_value: exactMatch http://identifiers.org/mesh/C563678
property_value: exactMatch http://identifiers.org/omim/610356
property_value: exactMatch http://identifiers.org/snomedct/719455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304714
property_value: exactMatch Orphanet:209932

[Term]
id: MONDO:0012476
name: hereditary spastic paraplegia 30
def: "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." [Orphanet:101010]
subset: ordo_disease {source="Orphanet:101010"}
synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781]
synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781]
synonym: "hereditary spastic paraplegia caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 30" EXACT [DOID:0110781, MONDORULE:2]
synonym: "KIF1A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357]
synonym: "spastic paraplegia 30, autosomal recessive; SPG30" RELATED [OMIM:610357]
synonym: "SPG30" EXACT [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010]
xref: DOID:0110781 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110781", source="ORDO:101010/attributed", source="ORDO:101010/ntbt", source="Orphanet:101010"}
xref: MESH:C563677 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610357 {source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010", source="ORDO:101010/e"}
xref: Orphanet:101010 {source="MONDO:equivalentTo", source="OMIM:610357", source="DOID:0110781"}
xref: SCTID:763377006 {source="MONDO:equivalentTo"}
xref: UMLS:C1835896 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610357", source="Orphanet:101010"}
is_a: MONDO:0017914 {source="Orphanet:101010"} ! pure or complex autosomal dominant spastic paraplegia
is_a: MONDO:0017915 {source="Orphanet:101010"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0110781
property_value: exactMatch http://identifiers.org/mesh/C563677
property_value: exactMatch http://identifiers.org/omim/610357
property_value: exactMatch http://identifiers.org/snomedct/763377006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835896
property_value: exactMatch Orphanet:101010

[Term]
id: MONDO:0012477
name: retinitis pigmentosa 33
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010400"}
synonym: "retinitis pigmentosa 33" EXACT [MONDO:Lexical, OMIM:610359]
synonym: "retinitis pigmentosa 33; RP33" RELATED [OMIM:610359]
synonym: "retinitis pigmentosa caused by mutation in SNRNP200" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 33" EXACT [DOID:0110366, MONDORULE:2, OMIM:610359]
synonym: "RP 33" RELATED [GARD:0010400]
synonym: "RP33" EXACT [DOID:0110366, MONDO:Lexical, OMIM:610359]
synonym: "SNRNP200 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110366 {source="MONDO:equivalentTo"}
xref: GARD:0010400 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110366"}
xref: MESH:C563676 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610359 {source="MONDO:equivalentTo", source="DOID:0110366"}
xref: UMLS:C1835895 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610359"}
is_a: MONDO:0019200 {source="DC-OMIM:610359", source="DOID:0110366", source="MESH:C563676", source="MONDO:Redundant", source="OMIM:610359"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110366
property_value: exactMatch http://identifiers.org/mesh/C563676
property_value: exactMatch http://identifiers.org/omim/610359
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835895
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33 xsd:anyURI {source="GARD:0010400"}

[Term]
id: MONDO:0012478
name: orofacial cleft 9
synonym: "cleft lip with or without cleft palate, nonsyndromic, 9" RELATED [OMIM:610361]
synonym: "OFC9" EXACT [MONDO:Lexical, OMIM:610361]
synonym: "orofacial cleft 9" EXACT [MONDO:Lexical, OMIM:610361]
synonym: "orofacial cleft 9; OFC9" RELATED [OMIM:610361]
xref: MESH:C563675 {source="MONDO:equivalentTo"}
xref: OMIM:610361 {source="MONDO:equivalentTo"}
xref: UMLS:C1835894 {source="OMIM:610361", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:610361"} ! orofacial cleft
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/mesh/C563675
property_value: exactMatch http://identifiers.org/omim/610361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835894

[Term]
id: MONDO:0012479
name: congenital malabsorptive diarrhea 4
def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620]
subset: ordo_disease {source="Orphanet:83620"}
synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern]
synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779]
synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1]
synonym: "DIAR4" RELATED [MONDO:Lexical, OMIM:610370]
synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370]
synonym: "diarrhea 4, malabsorptive, congenital; DIAR4" RELATED [OMIM:610370]
synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620]
synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060779 {source="MONDO:equivalentTo"}
xref: ICD10:P78.3 {source="Orphanet:83620", source="ORDO:83620/attributed", source="ORDO:83620/ntbt", source="DOID:0060779"}
xref: MESH:C563673 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610370 {source="ORDO:83620/e", source="Orphanet:83620", source="MONDO:equivalentTo", source="DOID:0060779"}
xref: Orphanet:83620 {source="MONDO:equivalentTo", source="DOID:0060779", source="OMIM:610370"}
xref: SCTID:722392003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1835888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610370"}
is_a: MONDO:0000824 {source="DC-OMIM:610370", source="DOID:0060779", source="MONDO:Redundant", source="OMIM:610370"} ! congenital diarrhea
is_a: MONDO:0015182 {source="Orphanet:83620"} ! congenital enteropathy involving intestinal mucosa development
property_value: exactMatch DOID:0060779
property_value: exactMatch http://identifiers.org/mesh/C563673
property_value: exactMatch http://identifiers.org/omim/610370
property_value: exactMatch http://identifiers.org/snomedct/722392003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835888
property_value: exactMatch Orphanet:83620

[Term]
id: MONDO:0012480
name: diabetes mellitus, transient neonatal, 2
def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCC8 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, transient neonatal, 2" EXACT [OMIM:610374]
synonym: "diabetes mellitus, transient neonatal, type 2" EXACT [MONDORULE:1, OMIM:610374]
synonym: "Tndm2" RELATED [OMIM:610374]
synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8" EXACT []
xref: MESH:C563672 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610374 {source="MONDO:equivalentTo"}
xref: SCTID:609580007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.47"}
xref: UMLS:C1835887 {source="OMIM:610374", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020525 {source="DC-OMIM:610374", source="MONDO:Redundant", source="MONDOLEX:0012480", source="linkedlifedata"} ! transient neonatal diabetes mellitus (disease)
property_value: exactMatch http://identifiers.org/mesh/C563672
property_value: exactMatch http://identifiers.org/omim/610374
property_value: exactMatch http://identifiers.org/snomedct/609580007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835887

[Term]
id: MONDO:0012481
name: mevalonic aciduria
def: "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." [Orphanet:29]
subset: gard_rare {source="GARD:0003588"}
subset: ordo_disease {source="Orphanet:29"}
synonym: "complete mevalonate kinase deficiency" EXACT [Orphanet:29]
synonym: "HIDS" EXACT [NCIT:C84890]
synonym: "hyperimmunoglobulin D with periodic fever syndrome" EXACT [NCIT:C84890]
synonym: "MEVA" RELATED [MONDO:Lexical, OMIM:610377]
synonym: "mevalonate kinase deficiency" EXACT EXCLUDE [DOID:0050452]
synonym: "mevalonic aciduria" EXACT [MONDO:Lexical, OMIM:610377]
synonym: "mevalonic aciduria; MEVA" RELATED [OMIM:610377]
synonym: "Mevalonicaciduria" RELATED [GARD:0003588]
synonym: "MKD" EXACT [NCIT:C84890]
synonym: "MVA" EXACT [Orphanet:29]
xref: DOID:0050452 {source="MONDO:equivalentTo"}
xref: GARD:0003588 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:29/attributed", source="ORDO:29/ntbt", source="Orphanet:29"}
xref: MedDRA:10072219 {source="Orphanet:29", source="ORDO:29/e"}
xref: NCIT:C84890 {source="DOID:0050452", source="MONDO:kboom-pr-0.89/0.75/0.36", source="MONDO:equivalentTo"}
xref: OMIM:610377 {source="DOID:0050452", source="MONDO:equivalentTo", source="Orphanet:29", source="ORDO:29/e"}
xref: Orphanet:29 {source="OMIM:610377", source="MONDO:equivalentTo"}
xref: SCTID:718558008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.31"}
xref: UMLS:C1959626 {source="DOID:0050452", source="OMIM:610377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84890", source="Orphanet:29", source="ORDO:29/e"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017708 {source="Orphanet:29"} ! mevalonate kinase deficiency
is_a: MONDO:0019053 {source="DOID:0050452"} ! peroxisomal disease
is_a: MONDO:0020280 {source="Orphanet:29"} ! metabolic disease with cataract
property_value: closeMatch http://identifiers.org/snomedct/124327008
property_value: closeMatch http://identifiers.org/snomedct/234538002
property_value: exactMatch DOID:0050452
property_value: exactMatch http://identifiers.org/meddra/10072219
property_value: exactMatch http://identifiers.org/mesh/D054078
property_value: exactMatch http://identifiers.org/omim/610377
property_value: exactMatch http://identifiers.org/snomedct/718558008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959626
property_value: exactMatch NCIT:C84890
property_value: exactMatch Orphanet:29
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria xsd:anyURI {source="GARD:0003588"}

[Term]
id: MONDO:0012482
name: West Nile virus, susceptibility to
subset: predisposition
synonym: "West Nile virus, susceptibility to" EXACT [OMIM:610379]
synonym: "WNV, susceptibility to" RELATED [OMIM:610379]
xref: OMIM:610379 {source="MONDO:equivalentTo"}
is_a: MONDO:0019376 {source="ORDO:83476/btnt"} ! West-Nile encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835867
property_value: exactMatch http://identifiers.org/omim/610379

[Term]
id: MONDO:0012483
name: cone-rod dystrophy 11
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 11" EXACT [MONDO:Lexical, OMIM:610381]
synonym: "cone-rod dystrophy 11; CORD11" RELATED [OMIM:610381]
synonym: "cone-rod dystrophy caused by mutation in RAX2" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 11" EXACT [DOID:0111018, MONDORULE:2, OMIM:610381]
synonym: "CORD11" EXACT [DOID:0111018, MONDO:Lexical, OMIM:610381]
synonym: "RAX2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111018 {source="MONDO:equivalentTo"}
xref: MESH:C563671 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610381 {source="DOID:0111018", source="MONDO:equivalentTo"}
xref: UMLS:C1835865 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610381"}
is_a: MONDO:0015993 {source="DC-OMIM:610381", source="DOID:0111018", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111018
property_value: exactMatch http://identifiers.org/mesh/C563671
property_value: exactMatch http://identifiers.org/omim/610381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835865

[Term]
id: MONDO:0012484
name: prosopagnosia, hereditary
def: "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital prosopagnosia" RELATED [GARD:0010035]
synonym: "developmental prosopagnosia" RELATED [GARD:0010035]
synonym: "face blindness" RELATED [OMIM:610382]
synonym: "hereditary prosopagnosia" RELATED [GARD:0010035]
synonym: "hereditary prosopagnosia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "prosopagnosia, congenital" RELATED [OMIM:610382]
synonym: "prosopagnosia, developmental" RELATED [OMIM:610382]
synonym: "prosopagnosia, hereditary" EXACT [OMIM:610382]
xref: GARD:0010035 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:610382 {source="MONDO:equivalentTo"}
xref: UMLS:C2931455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610382"}
is_a: MONDO:0003227 ! prosopagnosia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0003227 ! prosopagnosia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/omim/610382
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931455

[Term]
id: MONDO:0012485
name: autosomal recessive nonsyndromic deafness 68
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 68" EXACT [DOID:0110519]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 68" EXACT [DOID:0110519, MONDORULE:2]
synonym: "deafness, autosomal recessive 68" RELATED [MONDO:Lexical, OMIM:610419]
synonym: "deafness, autosomal recessive 68; DFNB68" RELATED [OMIM:610419]
synonym: "DFNB68" EXACT [DOID:0110519, MONDO:Lexical, OMIM:610419]
synonym: "S1PR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110519 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110519"}
xref: MESH:C563669 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610419 {source="MONDO:equivalentTo", source="DOID:0110519"}
xref: UMLS:C1835854 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610419"}
is_a: MONDO:0019588 {source="DC-OMIM:610419", source="DOID:0110519", source="MONDO:Redundant", source="OMIM:610419"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110519
property_value: exactMatch http://identifiers.org/mesh/C563669
property_value: exactMatch http://identifiers.org/omim/610419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835854

[Term]
id: MONDO:0012486
name: preauricular tag, isolated, autosomal dominant, 1
synonym: "preauricular tag, isolated, autosomal dominant, 1" EXACT [OMIM:610420]
synonym: "preauricular Tag, isolated, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:610420]
xref: MESH:C566904 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610420 {source="MONDO:equivalentTo"}
xref: UMLS:C1968893 {source="NCBI:mim2gene_medline", source="OMIM:610420", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566904
property_value: exactMatch http://identifiers.org/omim/610420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968893

[Term]
id: MONDO:0012487
name: alopecia-intellectual disability syndrome 2
synonym: "alopecia intellectual disability syndrome 2" RELATED [GARD:0004291]
synonym: "alopecia with mild to moderate intellectual deficit" RELATED [GARD:0004291]
synonym: "alopecia-mental retardation syndrome 2" EXACT [MONDO:Lexical, OMIM:610422]
synonym: "alopecia-mental retardation syndrome 2; APMR2" RELATED [OMIM:610422]
synonym: "AMR syndrome 2" RELATED [GARD:0004291]
synonym: "APMR2" RELATED [MONDO:Lexical, OMIM:610422]
xref: GARD:0004291 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C563668 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610422 {source="MONDO:equivalentTo"}
xref: UMLS:C1835852 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610422"}
is_a: MONDO:0008756 {source="OMIM:610422"} ! alopecia - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C563668
property_value: exactMatch http://identifiers.org/omim/610422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835852

[Term]
id: MONDO:0012488
name: hepatitis B virus, susceptibility to
subset: predisposition
synonym: "HBV, resistance to" RELATED [OMIM:610424]
synonym: "HBV, susceptibility to" RELATED [OMIM:610424]
synonym: "Hepatitis B Virus, resistance to" RELATED [OMIM:610424]
synonym: "hepatitis b virus, susceptibility to" EXACT [OMIM:610424]
xref: OMIM:610424 {source="MONDO:equivalentTo"}
xref: UMLS:C3552304 {source="MONDO:equivalentTo", source="OMIM:610424"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864880
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552303
property_value: exactMatch http://identifiers.org/omim/610424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552304

[Term]
id: MONDO:0012489
name: cataract 23
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 23" EXACT [MONDO:Lexical, OMIM:610425]
synonym: "cataract 23, lamellar" RELATED [OMIM:610425]
synonym: "cataract 23, multiple types" RELATED [OMIM:610425]
synonym: "cataract 23, multiple types, with or without microcornea" RELATED [OMIM:610425]
synonym: "cataract 23, multiple types; CTRCT23" RELATED [OMIM:610425]
synonym: "cataract 23; CTRCT23" RELATED [OMIM:610425]
synonym: "cataract type 23" EXACT [DOID:0110271, MONDORULE:2, OMIM:610425]
synonym: "CRYBA4 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT23" EXACT [DOID:0110271, MONDO:Lexical, OMIM:610425]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA4" EXACT [MONDO:design_pattern]
synonym: "lamellar cataract 23" EXACT [DOID:0110271]
xref: DOID:0110271 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110271"}
xref: OMIM:610425 {source="DOID:0110271", source="MONDO:equivalentTo"}
xref: UMLS:C3808012 {source="MONDO:equivalentTo", source="OMIM:610425"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864879
property_value: exactMatch DOID:0110271
property_value: exactMatch http://identifiers.org/omim/610425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808012

[Term]
id: MONDO:0012490
name: cone-rod synaptic disorder, congenital nonprogressive
synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT [MONDO:Lexical, OMIM:610427]
synonym: "cone-rod synaptic disorder, congenital nonprogressive; CRSD" RELATED [OMIM:610427]
synonym: "CRSD" RELATED [MONDO:Lexical, OMIM:610427]
synonym: "night blindness, congenital stationary, incomplete, autosomal recessive" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, type 2B" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, type 2B, formerly" RELATED [OMIM:610427]
xref: OMIM:610427 {source="MONDO:equivalentTo"}
xref: UMLS:C1864877 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610427"}
is_a: MONDO:0016293 {source="DC-OMIM:610427", source="MONDOLEX:0012490"} ! congenital stationary night blindness
property_value: exactMatch http://identifiers.org/omim/610427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864877

[Term]
id: MONDO:0012491
name: WM2
subset: predisposition
synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:610430]
synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2; WM2" RELATED [OMIM:610430]
synonym: "WM2" EXACT [MONDO:Lexical, OMIM:610430]
xref: OMIM:610430 {source="MONDO:equivalentTo"}
is_a: MONDO:0007926 {source="ORDO:33226/btnt"} ! Waldenstrom macroglobulinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864876
property_value: exactMatch http://identifiers.org/omim/610430

[Term]
id: MONDO:0012492
name: restless legs syndrome, susceptibility to, 3
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 3" RELATED [OMIM:610438]
synonym: "restless legs syndrome, susceptibility to, 3; RLS3" RELATED [OMIM:610438]
synonym: "RLS3" EXACT [MONDO:Lexical, OMIM:610438]
xref: GARD:0010270 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:610438 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:610438", source="MONDOLEX:0012492", source="OMIM:610438"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864875
property_value: exactMatch http://identifiers.org/omim/610438

[Term]
id: MONDO:0012493
name: restless legs syndrome, susceptibility to, 4
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 4" RELATED [OMIM:610439]
synonym: "restless legs syndrome, susceptibility to, 4; RLS4" RELATED [OMIM:610439]
synonym: "RLS 4" RELATED [GARD:0010271]
synonym: "RLS4" EXACT [MONDO:Lexical, OMIM:610439]
xref: GARD:0010271 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:610439 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:610439", source="MONDOLEX:0012493", source="OMIM:610439"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864874
property_value: exactMatch http://identifiers.org/omim/610439

[Term]
id: MONDO:0012494
name: testicular microlithiasis (disease)
synonym: "testicular microlithiasis" EXACT [MONDO:ambiguous, OMIM:610441]
xref: HP:0012215 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C566478 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610441 {source="MONDO:equivalentTo"}
xref: UMLS:C1864873 {source="OMIM:610441", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566478
property_value: exactMatch http://identifiers.org/omim/610441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864873

[Term]
id: MONDO:0012495
name: spondyloepimetaphyseal dysplasia, Genevieve type
def: "Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." [Orphanet:168454]
subset: ordo_disease {source="Orphanet:168454"}
synonym: "Nans deficiency" RELATED [OMIM:610442]
synonym: "SEMD Genevieve type" RELATED [GARD:0010057]
synonym: "SEMD, Genevieve type" RELATED [OMIM:610442]
synonym: "SEMD, Geneviève type" EXACT [Orphanet:168454]
synonym: "SEMDG" EXACT [Orphanet:168454]
synonym: "spondyloepimetaphyseal dysplasia Genevieve type" RELATED [GARD:0010057]
synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" RELATED [OMIM:610442]
synonym: "spondyloepimetaphyseal dysplasia, Genevieve type; SEMDG" RELATED [OMIM:610442]
synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454]
xref: GARD:0010057 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="Orphanet:168454", source="ORDO:168454/attributed", source="ORDO:168454/ntbt"}
xref: MESH:C535785 {source="ORDO:168454/e", source="Orphanet:168454", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610442 {source="ORDO:168454/e", source="Orphanet:168454", source="MONDO:equivalentTo"}
xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"}
xref: UMLS:C1864872 {source="ORDO:168454/e", source="Orphanet:168454", source="NCBI:mim2gene_medline", source="OMIM:610442", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535785
property_value: exactMatch http://identifiers.org/omim/610442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864872
property_value: exactMatch Orphanet:168454

[Term]
id: MONDO:0012496
name: Koolen de Vries syndrome
def: "Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." [Orphanet:96169]
comment: Editor note: DOID classifies as non-syndromic but we classify as syndromic
subset: ordo_malformation_syndrome {source="Orphanet:96169"}
synonym: "17q21.31 deletion syndrome" RELATED [GARD:0010727]
synonym: "17q21.31 microdeletion syndrome" EXACT EXCLUDE [DOID:0050880]
synonym: "chromosome 17Q21.31 deletion syndrome" RELATED [OMIM:610443]
synonym: "chromosome 17q21.31 deletion syndrome" EXACT [DOID:0070076]
synonym: "chromosome 17q21.31 microdeletion syndrome" RELATED [GARD:0010727]
synonym: "KANSL1-related intellectual disability syndrome" EXACT [DOID:0050880]
synonym: "KDVS" RELATED [MONDO:Lexical, OMIM:610443]
synonym: "KdVS" EXACT [DOID:0050880, Orphanet:96169]
synonym: "Koolen-DE Vries syndrome" RELATED [MONDO:Lexical, OMIM:610443]
synonym: "Koolen-De Vries syndrome" EXACT [DOID:0050880]
synonym: "Koolen-DE Vries syndrome; KDVS" RELATED [OMIM:610443]
synonym: "microdeletion 17Q21.31 syndrome" RELATED [OMIM:610443]
synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076]
xref: DOID:0050880 {source="MONDO:equivalentTo"}
xref: DOID:0070076 {source="MONDO:equivalentTo"}
xref: GARD:0010727 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:96169", source="ORDO:96169/attributed", source="ORDO:96169/ntbt"}
xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="ORDO:96169/e", source="Orphanet:96169", source="MONDO:equivalentTo"}
xref: Orphanet:96169 {source="DOID:0050880", source="OMIM:610443", source="MONDO:equivalentTo"}
xref: SCTID:717338006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1864871 {source="Orphanet:96169", source="OMIM:610443", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN776874 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015159 {source="Orphanet:96169"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070076"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0050880
property_value: exactMatch DOID:0070076
property_value: exactMatch http://identifiers.org/omim/610443
property_value: exactMatch http://identifiers.org/snomedct/717338006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776874
property_value: exactMatch Orphanet:96169

[Term]
id: MONDO:0012497
name: congenital stationary night blindness autosomal dominant 3
def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110715, PMID:8673138]
synonym: "congenital stationary night blindness autosomal dominant type 3" EXACT [DOID:0110715, MONDORULE:1]
synonym: "CSNBAD3" EXACT [DOID:0110715, MONDO:Lexical, OMIM:610444]
synonym: "night blindness, congenital stationary, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:610444]
synonym: "night blindness, congenital stationary, autosomal dominant 3; CSNBAD3" RELATED [OMIM:610444]
synonym: "night blindness, congenital stationary, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:610444]
synonym: "night blindness, congenital stationary, Nougaret type" RELATED [OMIM:610444]
synonym: "Nougaret type congenital stationary night blindness" EXACT [DOID:0110715]
xref: DOID:0110715 {source="MONDO:equivalentTo"}
xref: MESH:C566475 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610444 {source="MONDO:equivalentTo", source="DOID:0110715"}
xref: UMLS:C1864870 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610444"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016293 {source="DC-OMIM:610444", source="DOID:0110715", source="MONDO:Redundant", source="MONDOLEX:0012497", source="OMIM:610444"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110715
property_value: exactMatch http://identifiers.org/mesh/C566475
property_value: exactMatch http://identifiers.org/omim/610444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864870

[Term]
id: MONDO:0012498
name: congenital stationary night blindness autosomal dominant 1
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [DOID:0110862, MONDORULE:1]
synonym: "congenital stationary night blindness caused by mutation in RHO" EXACT [MONDO:design_pattern]
synonym: "CSNBAD1" EXACT [DOID:0110862, MONDO:Lexical, OMIM:610445]
synonym: "night blindness, congenital stationary, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:610445]
synonym: "night blindness, congenital stationary, autosomal dominant 1; CSNBAD1" RELATED [OMIM:610445]
synonym: "night blindness, congenital stationary, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:610445]
synonym: "night blindness, congenital stationary, rhodopsin-related" RELATED [OMIM:610445]
synonym: "RHO congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "rhodopsin-related congenital stationary night blindness" EXACT [DOID:0110862]
xref: DOID:0110862 {source="MONDO:equivalentTo"}
xref: MESH:C566474 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610445 {source="MONDO:equivalentTo", source="DOID:0110862"}
xref: UMLS:C1864869 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610445"}
is_a: MONDO:0016293 {source="DC-OMIM:610445", source="DOID:0110862", source="MONDO:Redundant", source="MONDOLEX:0012498", source="OMIM:610445"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110862
property_value: exactMatch http://identifiers.org/mesh/C566474
property_value: exactMatch http://identifiers.org/omim/610445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864869

[Term]
id: MONDO:0012499
name: Buruli ulcer, susceptibility to
subset: predisposition
synonym: "BUD" RELATED [GARD:0009520]
synonym: "Buruli ulcer, susceptibility to" EXACT [OMIM:610446]
synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [OMIM:610446]
xref: GARD:0009520 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:610446 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864868
property_value: exactMatch http://identifiers.org/omim/610446

[Term]
id: MONDO:0012500
name: chilblain lupus 1
def: "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHBL1" RELATED [MONDO:Lexical, OMIM:610448]
synonym: "chilblain lupus 1" EXACT [MONDO:Lexical, OMIM:610448]
synonym: "chilblain lupus 1; CHBL1" RELATED [OMIM:610448]
synonym: "chilblain lupus caused by mutation in TREX1" EXACT [MONDO:design_pattern]
synonym: "chilblain lupus type 1" EXACT [MONDORULE:1, OMIM:610448]
synonym: "TREX1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:610448 {source="MONDO:equivalentTo"}
is_a: MONDO:0018827 {source="OMIM:610448"} ! familial chilblain lupus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277619
property_value: exactMatch http://identifiers.org/omim/610448

[Term]
id: MONDO:0012501
name: mutagen sensitivity
comment: Editor note: TODO obsolete this?
subset: gard_rare {source="GARD:0008273"}
synonym: "mutagen sensitivity" EXACT [OMIM:610452]
xref: GARD:0008273 {source="MONDO:equivalentTo"}
xref: OMIM:610452 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864867
property_value: exactMatch http://identifiers.org/omim/610452
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity xsd:anyURI {source="GARD:0008273"}

[Term]
id: MONDO:0012502
name: normophosphatemic familial tumoral calcinosis
subset: gard_rare {source="GARD:0010878"}
subset: ordo_clinical_subtype {source="Orphanet:306658"}
synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [OMIM:610455]
synonym: "familial normophosphatemic tumoral calcinosis" RELATED [Orphanet:306658]
synonym: "NFTC" RELATED [MONDO:Lexical, OMIM:610455]
synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455]
synonym: "tumoral calcinosis, normophosphatemic, familial; NFTC" RELATED [OMIM:610455]
xref: DOID:0080170 {source="MONDO:equivalentTo"}
xref: GARD:0010878 {source="MONDO:equivalentTo"}
xref: ICD10:M11.2 {source="Orphanet:306658", source="ORDO:306658/attributed", source="ORDO:306658/ntbt"}
xref: MESH:C566473 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610455 {source="ORDO:306658/e", source="Orphanet:306658", source="MONDO:equivalentTo", source="DOID:0080170"}
xref: Orphanet:306658 {source="MONDO:equivalentTo", source="OMIM:610455"}
is_a: MONDO:0018891 {source="DC-OMIM:610455", source="MONDOLEX:0012502", source="Orphanet:306658"} ! familial tumoral calcinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864861
property_value: exactMatch DOID:0080170
property_value: exactMatch http://identifiers.org/mesh/C566473
property_value: exactMatch http://identifiers.org/omim/610455
property_value: exactMatch Orphanet:306658
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis xsd:anyURI {source="GARD:0010878"}

[Term]
id: MONDO:0012503
name: thiopurine S-methyltransferase deficiency
def: "An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." [MONDO:patterns/inborn_metabolic]
synonym: "6-mercaptopurine sensitivity" RELATED [GARD:0005173]
synonym: "inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn thiopurine S-methyltransferase activity disorder" EXACT []
synonym: "poor metabolism of thiopurines-1" EXACT [DOID:0080172]
synonym: "rare inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of thiopurine S-methyltransferase activity" RELATED [MONDO:patterns/inborn_metabolic]
synonym: "thiopurine methyltransferase deficiency" RELATED [GARD:0005173]
synonym: "thiopurine S methyltranferase deficiency" RELATED [GARD:0005173]
synonym: "thiopurine S-methyltransferase deficiency" EXACT [OMIM:610460]
synonym: "Thiopurines, poor metabolism of" RELATED [OMIM:610460]
synonym: "Thiopurines, poor metabolism of, 1" RELATED [OMIM:610460]
synonym: "thiopurines, poor metabolism of, 1; THPM1" RELATED [OMIM:610460]
synonym: "THPM1" RELATED [OMIM:610460]
synonym: "TPMT deficiency" EXACT [DOID:0080172, OMIM:610460]
xref: DOID:0080172 {source="MONDO:equivalentTo"}
xref: GARD:0005173 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536512 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610460 {source="MONDO:equivalentTo", source="DOID:0080172"}
xref: Orphanet:3315 {source="OMIM:610460", source="MONDO:equivalentTo"}
xref: SCTID:238012003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000210 {source="DC-OMIM:610460", source="OMIM:610460"} ! thiopurine metabolic disease
is_a: MONDO:0019052 {source="DOID:0080172", source="MESH:C536512/inferred", source="MONDO:Redundant", source="Orphanet:3315/inferred"} ! inborn errors of metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342801
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931223
property_value: exactMatch DOID:0080172
property_value: exactMatch http://identifiers.org/mesh/C536512
property_value: exactMatch http://identifiers.org/omim/610460
property_value: exactMatch http://identifiers.org/snomedct/238012003
property_value: exactMatch Orphanet:3315

[Term]
id: MONDO:0012504
name: camptodactyly-tall stature-scoliosis-hearing loss syndrome
def: "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." [Orphanet:85164]
subset: gard_rare
subset: ordo_disease {source="Orphanet:85164"}
synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [OMIM:610474]
synonym: "camptodactyly, tall stature, and hearing loss syndrome; CATSHLS" RELATED [OMIM:610474]
synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orphanet:85164]
synonym: "CATSHLS" RELATED [OMIM:610474]
xref: DOID:0111160 {source="MONDO:equivalentTo"}
xref: GARD:0010012 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:85164/attributed", source="ORDO:85164/ntbt", source="Orphanet:85164"}
xref: MESH:C537975 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="MONDO:equivalentTo", source="ORDO:85164/e", source="Orphanet:85164"}
xref: Orphanet:85164 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo"}
xref: UMLS:C1864852 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:85164"}
is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease
is_a: MONDO:0019685 {source="Orphanet:85164"} ! FGFR3-related chondrodysplasia
is_a: MONDO:0019711 {source="Orphanet:85164"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch DOID:0111160
property_value: exactMatch http://identifiers.org/mesh/C537975
property_value: exactMatch http://identifiers.org/omim/610474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864852
property_value: exactMatch Orphanet:85164

[Term]
id: MONDO:0012505
name: pigmented nodular adrenocortical disease, primary, 2
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [OMIM:610475]
synonym: "PDE11A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [OMIM:610475]
synonym: "pigmented nodular adrenocortical disease, primary, 2" EXACT [MONDO:Lexical, OMIM:610475]
synonym: "pigmented nodular adrenocortical disease, primary, 2; PPNAD2" RELATED [OMIM:610475]
synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1, OMIM:610475]
synonym: "PPNAD2" RELATED [MONDO:Lexical, OMIM:610475]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" EXACT [MONDO:design_pattern]
xref: MESH:C566472 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610475 {source="MONDO:equivalentTo"}
xref: UMLS:C1864851 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:610475", source="MONDO:equivalentTo"}
is_a: MONDO:0015999 {source="DC-OMIM:610475", source="MONDO:Redundant", source="OMIM:610475"} ! primary pigmented nodular adrenocortical disease
property_value: exactMatch http://identifiers.org/mesh/C566472
property_value: exactMatch http://identifiers.org/omim/610475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864851

[Term]
id: MONDO:0012506
name: arrhythmogenic right ventricular dysplasia 11
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 11" EXACT [DOID:0110082, OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia type 11" EXACT [DOID:0110082, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11" RELATED [MONDO:Lexical, OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair" RELATED [OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" RELATED [OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11; ARVD11" RELATED [OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2, OMIM:610476]
synonym: "ARVC11" EXACT [DOID:0110082]
synonym: "ARVD11" EXACT [DOID:0110082, MONDO:Lexical, OMIM:610476]
synonym: "DSC2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [DOID:0110082]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2" EXACT [MONDO:design_pattern]
xref: DOID:0110082 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110082"}
xref: MESH:C566471 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610476 {source="DOID:0110082", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="MONDO:Redundant", source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864850
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552311
property_value: exactMatch DOID:0110082
property_value: exactMatch http://identifiers.org/mesh/C566471
property_value: exactMatch http://identifiers.org/omim/610476

[Term]
id: MONDO:0012507
name: retinal cone dystrophy 4
def: "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010650"}
synonym: "CACNA2D4 cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone dystrophy caused by mutation in CACNA2D4" EXACT [MONDO:design_pattern]
synonym: "RCD4" RELATED [MONDO:Lexical, OMIM:610478]
synonym: "retinal cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:610478]
synonym: "retinal cone dystrophy 4; RCD4" RELATED [OMIM:610478]
synonym: "retinal cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:610478]
xref: GARD:0010650 {source="MONDO:equivalentTo"}
xref: MESH:C566470 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610478 {source="MONDO:equivalentTo"}
xref: UMLS:C1864849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610478"}
is_a: MONDO:0000455 {source="DC-OMIM:610478", source="MONDO:Redundant"} ! cone dystrophy
is_a: MONDO:0015993 ! cone-rod dystrophy
property_value: exactMatch http://identifiers.org/mesh/C566470
property_value: exactMatch http://identifiers.org/omim/610478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864849
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4 xsd:anyURI {source="GARD:0010650"}

[Term]
id: MONDO:0012508
name: agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
def: "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." [Orphanet:83617]
subset: ordo_malformation_syndrome {source="Orphanet:83617"}
synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483]
xref: GARD:0010011 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:83617/attributed", source="ORDO:83617/ntbt", source="Orphanet:83617"}
xref: MESH:C538055 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610483 {source="MONDO:equivalentTo", source="ORDO:83617/e", source="Orphanet:83617"}
xref: Orphanet:83617 {source="OMIM:610483", source="MONDO:equivalentTo"}
xref: SCTID:722281001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C1864848 {source="OMIM:610483", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:83617", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0001902 ! congenital agammaglobulinemia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:83617"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016463 {source="Orphanet:83617"} ! syndromic agammaglobulinemia
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019305 {source="Orphanet:83617"} ! immune deficiency with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C538055
property_value: exactMatch http://identifiers.org/omim/610483
property_value: exactMatch http://identifiers.org/snomedct/722281001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864848
property_value: exactMatch Orphanet:83617

[Term]
id: MONDO:0012509
name: pigmented nodular adrenocortical disease, primary, 1
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "adrenocortical nodular dysplasia, primary" RELATED [OMIM:610489]
synonym: "Cushing syndrome, adrenal, due to PPNAD1" RELATED [OMIM:610489]
synonym: "pigmented micronodular adrenocortical disease, primary, 1" RELATED [OMIM:610489]
synonym: "pigmented nodular adrenocortical disease, primary, 1" EXACT [MONDO:Lexical, OMIM:610489]
synonym: "pigmented nodular adrenocortical disease, primary, 1; PPNAD1" RELATED [OMIM:610489]
synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MONDORULE:1, OMIM:610489]
synonym: "PPNAD1" RELATED [MONDO:Lexical, OMIM:610489]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern]
synonym: "PRKAR1A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566469 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610489 {source="MONDO:equivalentTo"}
is_a: MONDO:0015999 {source="DC-OMIM:610489", source="MONDO:Redundant", source="OMIM:610489"} ! primary pigmented nodular adrenocortical disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864846
property_value: exactMatch http://identifiers.org/mesh/C566469
property_value: exactMatch http://identifiers.org/omim/610489

[Term]
id: MONDO:0012510
name: combined oxidative phosphorylation defect type 2
def: "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." [Orphanet:254920]
subset: ordo_disease {source="Orphanet:254920"}
synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498]
synonym: "combined oxidative phosphorylation deficiency 2; COXPD2" RELATED [OMIM:610498]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1, OMIM:610498]
synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [OMIM:610498]
synonym: "COXPD2" EXACT [MONDO:Lexical, OMIM:610498, Orphanet:254920]
synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="ORDO:254920/attributed", source="ORDO:254920/ntbt", source="Orphanet:254920"}
xref: MESH:C566468 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610498 {source="MONDO:equivalentTo", source="ORDO:254920/e", source="Orphanet:254920"}
xref: Orphanet:254920 {source="OMIM:610498", source="MONDO:equivalentTo"}
xref: SCTID:764943000 {source="MONDO:equivalentTo"}
xref: UMLS:C1864843 {source="MEDGEN:kboom-pr98-c99", source="OMIM:610498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:254920"}
is_a: MONDO:0000732 {source="DC-OMIM:610498", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:254920"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/mesh/C566468
property_value: exactMatch http://identifiers.org/omim/610498
property_value: exactMatch http://identifiers.org/snomedct/764943000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864843
property_value: exactMatch Orphanet:254920

[Term]
id: MONDO:0012511
name: preterm premature rupture of the membranes
def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." [DOID:0111144]
synonym: "PPROM" EXACT [DOID:0111144, MONDO:Lexical, OMIM:610504]
synonym: "preterm premature rupture of the membranes" EXACT [MONDO:Lexical, OMIM:610504]
synonym: "preterm premature rupture of the membranes; PPROM" RELATED [OMIM:610504]
xref: DOID:0111144 {source="MONDO:equivalentTo"}
xref: MESH:C563032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610504 {source="MONDO:equivalentTo", source="DOID:0111144"}
xref: SCTID:312974005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0002263 {source="DOID:0111144"} ! female reproductive system disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0729264
property_value: exactMatch DOID:0111144
property_value: exactMatch http://identifiers.org/mesh/C563032
property_value: exactMatch http://identifiers.org/omim/610504
property_value: exactMatch http://identifiers.org/snomedct/312974005

[Term]
id: MONDO:0012512
name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
def: "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." [Orphanet:168566]
subset: ordo_disease {source="Orphanet:168566"}
synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505]
synonym: "combined oxidative phosphorylation deficiency 3; COXPD3" RELATED [OMIM:610505]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1, OMIM:610505]
synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [OMIM:610505]
synonym: "COXPD3" RELATED [MONDO:Lexical, OMIM:610505]
synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [OMIM:610505]
synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566]
synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="Orphanet:168566", source="ORDO:168566/attributed", source="ORDO:168566/ntbt"}
xref: MESH:C566467 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610505 {source="ORDO:168566/e", source="Orphanet:168566", source="MONDO:equivalentTo"}
xref: Orphanet:168566 {source="MONDO:equivalentTo", source="OMIM:610505"}
xref: SCTID:720951008 {source="MONDO:kboom-pr-1.00/0.80/9.05", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:610505", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:168566"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864840
property_value: exactMatch http://identifiers.org/mesh/C566467
property_value: exactMatch http://identifiers.org/omim/610505
property_value: exactMatch http://identifiers.org/snomedct/720951008
property_value: exactMatch Orphanet:168566

[Term]
id: MONDO:0012513
name: maturity-onset diabetes of the young type 7
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010661"}
synonym: "diabetes mellitus MODY type 7" RELATED [GARD:0010661]
synonym: "KLF11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KLF11" EXACT []
synonym: "maturity-onset diabetes of the young, type 7" RELATED [MONDO:Lexical, OMIM:610508]
synonym: "maturity-onset diabetes of the young, type 7; MODY7" RELATED [OMIM:610508]
synonym: "MODY KLF11 related" RELATED [GARD:0010661]
synonym: "MODY type 7" RELATED [GARD:0010661]
synonym: "MODY7" EXACT [DOID:0111106, MONDO:Lexical, OMIM:610508]
synonym: "type 7 maturity-onset diabetes of the young" RELATED [GARD:0010661]
xref: DOID:0111106 {source="MONDO:equivalentTo"}
xref: GARD:0010661 {source="MONDO:equivalentTo"}
xref: MESH:C566466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610508 {source="DOID:0111106", source="MONDO:equivalentTo"}
xref: SCTID:609574004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C1864839 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610508"}
is_a: MONDO:0018911 {source="DC-OMIM:610508", source="DOID:0111106", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111106
property_value: exactMatch http://identifiers.org/mesh/C566466
property_value: exactMatch http://identifiers.org/omim/610508
property_value: exactMatch http://identifiers.org/snomedct/609574004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864839
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 xsd:anyURI {source="GARD:0010661"}

[Term]
id: MONDO:0012514
name: hypomyelinating leukodystrophy 5
def: "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." [Orphanet:85163]
subset: ordo_malformation_syndrome {source="Orphanet:85163"}
synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD5" EXACT [DOID:0060793, MONDO:Lexical, OMIM:610532]
synonym: "hypomyelinating leukodystrophy type 5" EXACT [DOID:0060793, MONDORULE:1]
synonym: "hypomyelination - congenital cataract" RELATED [GARD:0011980]
synonym: "hypomyelination and congenital cataract" RELATED [GARD:0011980]
synonym: "hypomyelination and congenital cataract: HCC" RELATED [OMIM:610532]
synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793]
synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532]
synonym: "leukodystrophy, hypomyelinating, 5; HLD5" RELATED [OMIM:610532]
synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532]
xref: DOID:0060793 {source="MONDO:equivalentTo"}
xref: GARD:0011980 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G37.8 {source="ORDO:85163/attributed", source="ORDO:85163/ntbt", source="DOID:0060793", source="Orphanet:85163"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567166 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610532 {source="DOID:0060793", source="MONDO:equivalentTo", source="ORDO:85163/e", source="Orphanet:85163"}
xref: Orphanet:85163 {source="DOID:0060793", source="MONDO:equivalentTo", source="OMIM:610532"}
xref: SCTID:702379005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C1864663 {source="MONDO:equivalentTo", source="OMIM:610532", source="Orphanet:85163"}
is_a: MONDO:0000508 {source="Orphanet:85163"} ! syndromic intellectual disability
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0019046 {source="DOID:0060793", source="DOID:0060793/inferred", source="MONDO:Redundant", source="OMIM:610532", source="Orphanet:85163"} ! leukodystrophy
is_a: MONDO:0020225 {source="Orphanet:85163"} ! syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674508
property_value: exactMatch DOID:0060793
property_value: exactMatch http://identifiers.org/mesh/C567166
property_value: exactMatch http://identifiers.org/omim/610532
property_value: exactMatch http://identifiers.org/snomedct/702379005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864663
property_value: exactMatch Orphanet:85163

[Term]
id: MONDO:0012515
name: GLC1M
synonym: "glaucoma 1, open angle, M" RELATED [MONDO:Lexical, OMIM:610535]
synonym: "glaucoma 1, open angle, M; GLC1M" RELATED [OMIM:610535]
synonym: "GLC1M" EXACT [MONDO:Lexical, OMIM:610535]
synonym: "JOAG1M" EXACT []
xref: MESH:C566436 {source="MONDO:equivalentTo"}
xref: OMIM:610535 {source="MONDO:equivalentTo"}
xref: UMLS:C1864653 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610535"}
is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma
property_value: exactMatch http://identifiers.org/mesh/C566436
property_value: exactMatch http://identifiers.org/omim/610535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864653

[Term]
id: MONDO:0012516
name: mandibulofacial dysostosis-microcephaly syndrome
def: "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." [Orphanet:79113]
subset: ordo_malformation_syndrome {source="Orphanet:79113"}
synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [OMIM:610536]
synonym: "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" RELATED [GARD:0010056]
synonym: "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" RELATED [GARD:0010056]
synonym: "mandibulofacial dysostosis with microcephaly" EXACT [DOID:0080196, OMIM:610536]
synonym: "mandibulofacial dysostosis, Guion-Almeida type" EXACT [MONDO:Lexical, OMIM:610536, Orphanet:79113]
synonym: "mandibulofacial dysostosis, Guion-Almeida type; MFDGA" RELATED [OMIM:610536]
synonym: "MFDGA" RELATED [MONDO:Lexical, OMIM:610536]
synonym: "MFDM" RELATED [GARD:0010056]
synonym: "MFDM syndrome" EXACT [Orphanet:79113]
xref: DOID:0080196 {source="MONDO:equivalentTo"}
xref: GARD:0010056 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="ORDO:79113/attributed", source="ORDO:79113/ntbt", source="Orphanet:79113"}
xref: MESH:C537405 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610536 {source="DOID:0080196", source="MONDO:equivalentTo", source="ORDO:79113/e", source="Orphanet:79113"}
xref: Orphanet:79113 {source="MONDO:equivalentTo", source="OMIM:610536"}
xref: SCTID:711543008 {source="MONDO:kboom-pr-1.00/0.79/7.96", source="MONDO:equivalentTo"}
xref: UMLS:C1864652 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610536", source="Orphanet:79113"}
is_a: MONDO:0000426 {source="DOID:0080196", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:79113", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:79113"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:79113"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015335 {source="Orphanet:79113"} ! orofacial clefting syndrome
is_a: MONDO:0018237 {source="Orphanet:79113"} ! acrofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080196
property_value: exactMatch http://identifiers.org/mesh/C537405
property_value: exactMatch http://identifiers.org/omim/610536
property_value: exactMatch http://identifiers.org/snomedct/711543008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864652
property_value: exactMatch Orphanet:79113

[Term]
id: MONDO:0012517
name: atypical Gaucher disease due to saposin C deficiency
def: "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:309252"}
synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252]
synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gaucher disease caused by mutation in PSAP" EXACT [MONDO:design_pattern]
synonym: "Gaucher disease, atypical" RELATED [GARD:0012503]
synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539]
synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110961 {source="MONDO:equivalentTo"}
xref: GARD:0012503 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:309252", source="ORDO:309252/attributed", source="ORDO:309252/ntbt", source="DOID:0110961"}
xref: MESH:C566435 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610539 {source="Orphanet:309252", source="ORDO:309252/e", source="MONDO:equivalentTo", source="DOID:0110961"}
xref: Orphanet:309252 {source="MONDO:equivalentTo", source="OMIM:610539", source="DOID:0110961"}
xref: UMLS:C1864651 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:309252", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610539"}
is_a: MONDO:0018150 {source="DC-OMIM:610539", source="DOID:0110961", source="MESH:C566435", source="MONDO:Redundant", source="MONDOLEX:0012517", source="Orphanet:309252"} ! Gaucher disease
property_value: exactMatch DOID:0110961
property_value: exactMatch http://identifiers.org/mesh/C566435
property_value: exactMatch http://identifiers.org/omim/610539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864651
property_value: exactMatch Orphanet:309252

[Term]
id: MONDO:0012518
name: congenital myasthenic syndrome 12
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS12" EXACT [DOID:0110660, MONDO:Lexical, OMIM:610542]
synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [DOID:0110660]
synonym: "congenital myasthenic syndrome type 12" EXACT [DOID:0110660, MONDORULE:2]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1" EXACT [MONDO:design_pattern]
synonym: "GFPT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical, OMIM:610542]
synonym: "myasthenic syndrome, congenital, 12; CMS12" RELATED [OMIM:610542]
synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2, OMIM:610542]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 1" RELATED [OMIM:610542]
xref: DOID:0110660 {source="MONDO:equivalentTo"}
xref: OMIM:610542 {source="MONDO:equivalentTo", source="DOID:0110660"}
is_a: MONDO:0000182 {source="DC-OMIM:610542", source="MONDOLEX:0012518", source="OMIM:610542"} ! congenital myasthenic syndrome with tubular aggregates
is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864649
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552335
property_value: exactMatch DOID:0110660
property_value: exactMatch http://identifiers.org/omim/610542

[Term]
id: MONDO:0012519
name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
def: "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece ( deletion ) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome , it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive , hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders ." [GARD:0010754]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:353281"}
synonym: "16p13.3 deletion syndrome" RELATED [GARD:0010754]
synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543]
synonym: "Rsts deletion syndrome" RELATED [OMIM:610543]
synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543]
xref: GARD:0010754 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:353281/attributed", source="ORDO:353281/ntbt", source="Orphanet:353281"}
xref: OMIM:610543 {source="MONDO:equivalentTo", source="GARD:0010754", source="ORDO:353281/e", source="Orphanet:353281"}
xref: Orphanet:353281 {source="MONDO:equivalentTo", source="OMIM:610543"}
xref: UMLS:C1864648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610543"}
is_a: MONDO:0000761 {source="DC-OMIM:610543"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:353281", source="Orphanet:353281/inferred"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019188 {source="DC-OMIM:610543", source="OMIM:610543", source="Orphanet:353281"} ! Rubinstein-Taybi syndrome
property_value: exactMatch http://identifiers.org/omim/610543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864648
property_value: exactMatch Orphanet:353281
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome xsd:anyURI {source="GARD:0010754"}

[Term]
id: MONDO:0012520
name: insulin-resistance syndrome type A
def: "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." [Orphanet:2297]
subset: ordo_disease {source="Orphanet:2297"}
synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [OMIM:610549]
synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [OMIM:610549]
synonym: "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" RELATED [OMIM:610549]
synonym: "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" EXACT [NCIT:C131836]
synonym: "insulin-resistant acanthosis nigricans, type A" RELATED [GARD:0003008]
synonym: "Iran, type a" RELATED [OMIM:610549]
synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836]
xref: EFO:1001503 {source="MONDO:equivalentTo"}
xref: GARD:0003008 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E13 {source="Orphanet:2297", source="ORDO:2297/attributed", source="ORDO:2297/ntbt"}
xref: MESH:C562710 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131836 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="ORDO:2297/e"}
xref: Orphanet:2297 {source="MONDO:equivalentTo", source="OMIM:610549"}
is_a: MONDO:0015885 {source="Orphanet:2297"} ! rare insulin-resistance syndrome
is_a: MONDO:0018413 {source="Orphanet:2297"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271690
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342278
property_value: exactMatch http://identifiers.org/mesh/C562710
property_value: exactMatch http://identifiers.org/omim/610549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342336
property_value: exactMatch NCIT:C131836
property_value: exactMatch Orphanet:2297

[Term]
id: MONDO:0012521
name: herpes simplex encephalitis
def: "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." [Orphanet:1930]
subset: gard_rare {source="GARD:0006649"}
subset: ordo_disease {source="Orphanet:1930"}
synonym: "Herpes simplex meningo-encephalitis" EXACT [Orphanet:1930]
synonym: "Herpes simplex neuroinvasion" EXACT [Orphanet:1930]
synonym: "Herpes simplex virus encephalitis" RELATED [Orphanet:1930]
synonym: "herpetic encephalitis" EXACT [Orphanet:1930]
synonym: "HSE" EXACT [Orphanet:1930]
synonym: "HSV encephalitis" EXACT [Orphanet:1930]
synonym: "HSVE" EXACT [Orphanet:1930]
synonym: "Simplexvirus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus infectious encephalitis" EXACT []
xref: GARD:0006649 {source="MONDO:equivalentTo"}
xref: ICD10:B00.4+ {source="Orphanet:1930", source="ORDO:1930/e", source="ORDO:1930/specific"}
xref: ICD10:G05.1* {source="Orphanet:1930", source="ORDO:1930/e", source="ORDO:1930/specific"}
xref: MESH:D020803 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84762 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:1930 {source="OMIM:610551", source="MONDO:equivalentTo"}
is_a: MONDO:0004609 ! herpes simplex infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C84762", source="Orphanet:1930"} ! viral encephalitis
is_a: MONDO:0015979 {source="Orphanet:1930"} ! hereditary predisposition to infections
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0015659 {source="Orphanet:1930"} ! infectious disease with epilepsy
relationship: excluded_subClassOf MONDO:0020141 {source="Orphanet:1930"} ! infectious disease with dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019385
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0276226
property_value: exactMatch http://identifiers.org/mesh/D020803
property_value: exactMatch NCIT:C84762
property_value: exactMatch Orphanet:1930
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis xsd:anyURI {source="GARD:0006649"}

[Term]
id: MONDO:0012522
name: diabetes mellitus, transient neonatal, 3
def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, transient neonatal, 3" EXACT [OMIM:610582]
synonym: "diabetes mellitus, transient neonatal, type 3" EXACT [MONDORULE:1, OMIM:610582]
synonym: "diabetes mellitus, type II, autosomal dominant" RELATED [OMIM:610582]
synonym: "KCNJ11 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tndm3" RELATED [OMIM:610582]
synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11" EXACT []
xref: OMIM:610582 {source="MONDO:equivalentTo"}
xref: SCTID:609581006 {source="MONDO:kboom-pr-0.77/0.42/0.55", source="MONDO:equivalentTo"}
is_a: MONDO:0020525 {source="DC-OMIM:610582", source="MONDO:Redundant", source="MONDOLEX:0012522", source="linkedlifedata"} ! transient neonatal diabetes mellitus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342277
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864623
property_value: exactMatch http://identifiers.org/omim/610582
property_value: exactMatch http://identifiers.org/snomedct/609581006

[Term]
id: MONDO:0012523
name: retinitis pigmentosa 36
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010403"}
synonym: "PRCD retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 36" EXACT [MONDO:Lexical, OMIM:610599]
synonym: "retinitis pigmentosa 36; RP36" RELATED [OMIM:610599]
synonym: "retinitis pigmentosa caused by mutation in PRCD" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 36" EXACT [DOID:0110405, MONDORULE:2, OMIM:610599]
synonym: "RP 36" RELATED [GARD:0010403]
synonym: "RP36" EXACT [DOID:0110405, MONDO:Lexical, OMIM:610599]
xref: DOID:0110405 {source="MONDO:equivalentTo"}
xref: GARD:0010403 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110405"}
xref: MESH:C566431 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610599 {source="DOID:0110405", source="MONDO:equivalentTo"}
xref: UMLS:C1864621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610599"}
is_a: MONDO:0019200 {source="DC-OMIM:610599", source="DOID:0110405", source="MESH:C566431", source="MONDO:Redundant", source="OMIM:610599"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110405
property_value: exactMatch http://identifiers.org/mesh/C566431
property_value: exactMatch http://identifiers.org/omim/610599
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864621
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36 xsd:anyURI {source="GARD:0010403"}

[Term]
id: MONDO:0012524
name: corticosterone methyloxidase type 2 deficiency
synonym: "18-oxidase deficiency" RELATED [OMIM:610600]
synonym: "aldosterone deficiency 2" RELATED [OMIM:610600]
synonym: "aldosterone deficiency due to deficiency of steroid 18-oxidase" RELATED [OMIM:610600]
synonym: "Cmo 2 deficiency" RELATED [OMIM:610600]
synonym: "corticosterone methyloxidase type II deficiency" RELATED [OMIM:610600]
synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:610600]
synonym: "steroid 18-oxidase deficiency" RELATED [OMIM:610600]
xref: OMIM:610600 {source="MONDO:equivalentTo"}
xref: UMLS:C3463917 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610600"}
is_a: MONDO:0020489 {source="ORDO:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1
property_value: exactMatch http://identifiers.org/omim/610600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463917

[Term]
id: MONDO:0012525
name: Leber congenital amaurosis 12
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010489"}
synonym: "amaurosis congenita of Leber, type 12" RELATED [GARD:0010489]
synonym: "LCA12" EXACT [DOID:0110080, MONDO:Lexical, OMIM:610612]
synonym: "Leber congenital amaurosis 12" EXACT [MONDO:Lexical, OMIM:610612]
synonym: "Leber congenital amaurosis 12; LCA12" RELATED [OMIM:610612]
synonym: "Leber congenital amaurosis caused by mutation in RD3" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 12" EXACT [DOID:0110080, MONDORULE:2, OMIM:610612]
synonym: "RD3 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110080 {source="MONDO:equivalentTo"}
xref: GARD:0010489 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110080", source="MONDO:relatedTo"}
xref: MESH:C565697 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610612 {source="DOID:0110080", source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="DC-OMIM:610612", source="DOID:0110080", source="MESH:C565697", source="MONDO:Redundant", source="OMIM:610612"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857743
property_value: exactMatch DOID:0110080
property_value: exactMatch http://identifiers.org/mesh/C565697
property_value: exactMatch http://identifiers.org/omim/610612
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12 xsd:anyURI {source="GARD:0010489"}

[Term]
id: MONDO:0012526
name: hereditary angioedema type 3
def: "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100054]
subset: ordo_etiological_subtype {source="Orphanet:100054"}
synonym: "angioedema, hereditary, type 3" RELATED [OMIM:610618]
synonym: "angioedema, hereditary, type III" RELATED [MONDO:Lexical, OMIM:610618]
synonym: "angioedema, hereditary, type III; HAE3" RELATED [OMIM:610618]
synonym: "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function" RELATED [OMIM:610618]
synonym: "estrogen-related Hae" RELATED [OMIM:610618]
synonym: "estrogen-sensitive Hae" RELATED [OMIM:610618]
synonym: "F12 hereditary angioedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HAE 3" EXACT [Orphanet:100054]
synonym: "Hae 3" RELATED [OMIM:610618]
synonym: "Hae with normal C1 inhibitor concentration and function" RELATED [OMIM:610618]
synonym: "HAE-III" EXACT [Orphanet:100054]
synonym: "HAE3" RELATED [MONDO:Lexical, OMIM:610618]
synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_pattern]
synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [OMIM:610618]
synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054]
synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-associated angioneurotic edema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054]
xref: ICD10:D84.1 {source="Orphanet:100054", source="ORDO:100054/attributed", source="ORDO:100054/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:100054/e"}
xref: OMIM:610618 {source="Orphanet:100054", source="MONDO:equivalentTo", source="ORDO:100054/e"}
xref: Orphanet:100054 {source="MONDO:equivalentTo", source="OMIM:610618"}
xref: SCTID:427167008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
is_a: MONDO:0033947 {source="DC-OMIM:610618", source="MESH:D056828", source="MONDO:Redundant", source="MONDOLEX:0012526", source="Orphanet:100054"} ! hereditary angioedema with normal c1Inh
property_value: exactMatch http://identifiers.org/mesh/D056828
property_value: exactMatch http://identifiers.org/omim/610618
property_value: exactMatch http://identifiers.org/snomedct/427167008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960459
property_value: exactMatch Orphanet:100054

[Term]
id: MONDO:0012527
name: cataract 11 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 11 with microphthalmia and neurodevelopmental abnormalities" RELATED [OMIM:610623]
synonym: "cataract 11, multiple types" RELATED [MONDO:Lexical, OMIM:610623]
synonym: "cataract 11, multiple types; CTRCT11" RELATED [OMIM:610623]
synonym: "cataract, posterior polar, 4" RELATED [OMIM:610623]
synonym: "CPP4" NARROW [DOID:0110249]
synonym: "Cpp4" RELATED [OMIM:610623]
synonym: "CTPP4" NARROW [DOID:0110249]
synonym: "CTRCT11" EXACT [DOID:0110249, MONDO:Lexical, OMIM:610623]
synonym: "early-onset non-syndromic cataract caused by mutation in PITX3" EXACT [MONDO:design_pattern]
synonym: "PITX3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "posterior polar cataract 4" NARROW [DOID:0110249]
synonym: "Posterior polar cataract, 4" RELATED [GARD:0010228]
xref: DOID:0110249 {source="MONDO:equivalentTo"}
xref: GARD:0010228 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q12.0 {source="DOID:0110249"}
xref: MESH:C535344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610623 {source="DOID:0110249", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864567
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808029
property_value: exactMatch DOID:0110249
property_value: exactMatch http://identifiers.org/mesh/C535344
property_value: exactMatch http://identifiers.org/omim/610623

[Term]
id: MONDO:0012528
name: hypogonadotropic hypogonadism 4 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "HH4" RELATED [MONDO:Lexical, OMIM:610628]
synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [MONDO:Lexical, OMIM:610628]
synonym: "hypogonadotropic hypogonadism 4 with or without anosmia; HH4" RELATED [OMIM:610628]
synonym: "hypogonadotropic hypogonadism caused by mutation in PROK2" EXACT [MONDO:design_pattern]
synonym: "KAL4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77]
synonym: "Kallman syndrome 4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77]
synonym: "Kallmann syndrome 4" RELATED [GARD:0010772]
synonym: "PROK2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090077 {source="MONDO:equivalentTo"}
xref: GARD:0010772 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090077"}
xref: MESH:C565696 {source="MONDO:equivalentTo"}
xref: OMIM:610628 {source="DOID:0090077", source="GARD:0010772", source="MONDO:equivalentTo"}
xref: UMLS:C3552343 {source="MONDO:equivalentTo", source="OMIM:610628"}
is_a: MONDO:0018800 {source="MESH:C565696", source="MONDOLEX:0012528", source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857720
property_value: exactMatch DOID:0090077
property_value: exactMatch http://identifiers.org/mesh/C565696
property_value: exactMatch http://identifiers.org/omim/610628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552343
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 xsd:anyURI {source="GARD:0010772"}

[Term]
id: MONDO:0012529
name: Diamond-Blackfan anemia 3
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010241"}
synonym: "anemia Diamond-Blackfan 3" RELATED [GARD:0010241]
synonym: "DBA3" RELATED [MONDO:Lexical, OMIM:610629]
synonym: "Diamond-Blackfan anemia 3" EXACT [MONDO:Lexical, OMIM:610629]
synonym: "Diamond-Blackfan anemia 3; DBA3" RELATED [OMIM:610629]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS24" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629]
synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010241 {source="MONDO:equivalentTo"}
xref: MESH:C536355 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610629 {source="MONDO:equivalentTo"}
xref: UMLS:C1857719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610629"}
is_a: MONDO:0015253 {source="DC-OMIM:610629", source="MESH:C536355", source="MONDO:Redundant", source="MONDOLEX:0012529", source="OMIM:610629"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C536355
property_value: exactMatch http://identifiers.org/omim/610629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857719
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3 xsd:anyURI {source="GARD:0010241"}

[Term]
id: MONDO:0012530
name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
def: "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown." [Orphanet:85112]
subset: ordo_disease {source="Orphanet:85112"}
synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:610644]
synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644]
synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112]
xref: ICD10:Q56.0 {source="Orphanet:85112", source="ORDO:85112/attributed", source="ORDO:85112/ntbt"}
xref: MESH:C567165 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="ORDO:85112/e"}
xref: Orphanet:85112 {source="MONDO:equivalentTo", source="OMIM:610644"}
is_a: MONDO:0017671 {source="Orphanet:85112"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0017965 {source="Orphanet:85112"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:85112"} ! syndrome with disorder of sex development of gynecological interest
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674504
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149931
property_value: exactMatch http://identifiers.org/mesh/C567165
property_value: exactMatch http://identifiers.org/omim/610644
property_value: exactMatch Orphanet:85112

[Term]
id: MONDO:0012531
name: xeroderma pigmentosum group B
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651]
synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group type B" EXACT [DOID:0110850, MONDORULE:1]
synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical, OMIM:610651]
synonym: "xeroderma pigmentosum, complementation group B; XPB" RELATED [OMIM:610651]
synonym: "xeroderma pigmentosum, complementation group type B" EXACT [MONDORULE:1, OMIM:610651]
synonym: "xeroderma pigmentosum, type 2" RELATED [GARD:0005625]
synonym: "XP group B" EXACT [DOID:0110850]
synonym: "XP, Group B" EXACT [OMIM:610651]
synonym: "XP-B" EXACT [NCIT:C3966]
synonym: "XPB" EXACT [DOID:0110850, MONDO:Lexical, OMIM:610651]
synonym: "XPB/CS" RELATED [OMIM:610651]
synonym: "XPBC" EXACT [DOID:0110850]
xref: DOID:0110850 {source="MONDO:equivalentTo"}
xref: GARD:0005625 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="MONDO:subClassOf", source="DOID:0110850"}
xref: MESH:C562590 {source="MONDO:equivalentTo"}
xref: NCIT:C3966 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/23.59"}
xref: OMIM:610651 {source="MONDO:equivalentTo", source="DOID:0110850"}
xref: Orphanet:276252 {source="MONDO:obsoleteEquivalent", source="OMIM:610651"}
xref: SCTID:1073003 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"}
xref: UMLS:C0268136 {source="OMIM:610651", source="MONDO:equivalentTo", source="NCIT:C3966"}
is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MESH:C562590", source="MONDO:Redundant", source="NCIT:C3966", source="linkedlifedata"} ! xeroderma pigmentosum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970808
property_value: exactMatch DOID:0110850
property_value: exactMatch http://identifiers.org/mesh/C562590
property_value: exactMatch http://identifiers.org/omim/610651
property_value: exactMatch http://identifiers.org/snomedct/1073003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268136
property_value: exactMatch NCIT:C3966
property_value: exactMatch Orphanet:276252

[Term]
id: MONDO:0012532
name: hereditary hemorrhagic telangiectasia type 4
subset: gard_rare
synonym: "HHT4" RELATED [GARD:0010615, MONDO:Lexical, OMIM:610655]
synonym: "telangiectasia, hereditary hemorrhagic, type 4" RELATED [MONDO:Lexical, OMIM:610655]
synonym: "telangiectasia, hereditary hemorrhagic, type 4; HHT4" RELATED [OMIM:610655]
xref: GARD:0010615 {source="MONDO:equivalentTo"}
xref: MESH:C565691 {source="MONDO:equivalentTo"}
xref: OMIM:610655 {source="MONDO:equivalentTo", source="GARD:0010615"}
is_a: MONDO:0019180 {source="DC-OMIM:610655", source="MESH:C565691", source="MONDOLEX:0012532", source="OMIM:610655"} ! hereditary hemorrhagic telangiectasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857688
property_value: exactMatch http://identifiers.org/mesh/C565691
property_value: exactMatch http://identifiers.org/omim/610655
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 xsd:anyURI {source="GARD:0010615"}

[Term]
id: MONDO:0012533
name: AUTS7
subset: predisposition
synonym: "autism, susceptibility to, 7" RELATED [MONDO:Lexical, OMIM:610676]
synonym: "autism, susceptibility to, 7; AUTS7" RELATED [OMIM:610676]
synonym: "AUTS7" EXACT [MONDO:Lexical, OMIM:610676]
xref: OMIM:610676 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:610676", source="MONDOLEX:0012533", source="OMIM:610676"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970807
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/610676

[Term]
id: MONDO:0012534
name: combined oxidative phosphorylation defect type 4
def: "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." [Orphanet:254925]
subset: ordo_disease {source="Orphanet:254925"}
synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678]
synonym: "combined oxidative phosphorylation deficiency 4; COXPD4" RELATED [OMIM:610678]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TUFM" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1, OMIM:610678]
synonym: "COXPD4" EXACT [MONDO:Lexical, OMIM:610678, Orphanet:254925]
synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="Orphanet:254925", source="ORDO:254925/attributed", source="ORDO:254925/ntbt"}
xref: MESH:C565690 {source="MONDO:equivalentTo"}
xref: OMIM:610678 {source="MONDO:equivalentTo", source="Orphanet:254925", source="ORDO:254925/e"}
xref: Orphanet:254925 {source="MONDO:equivalentTo", source="OMIM:610678"}
xref: SCTID:766876004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857682 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610678", source="Orphanet:254925"}
is_a: MONDO:0000732 {source="DC-OMIM:610678", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:254925"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/mesh/C565690
property_value: exactMatch http://identifiers.org/omim/610678
property_value: exactMatch http://identifiers.org/snomedct/766876004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857682
property_value: exactMatch Orphanet:254925

[Term]
id: MONDO:0012535
name: holoprosencephaly, recurrent infections, and monocytosis
subset: gard_rare {source="GARD:0010055"}
synonym: "holoprosencephaly, recurrent infections, and monocytosis" EXACT [OMIM:610680]
xref: GARD:0010055 {source="MONDO:equivalentTo"}
xref: MESH:C538328 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610680 {source="MONDO:equivalentTo"}
xref: UMLS:C1853187 {source="OMIM:610680", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C538328/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C538328
property_value: exactMatch http://identifiers.org/omim/610680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853187
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis xsd:anyURI {source="GARD:0010055"}

[Term]
id: MONDO:0012536
name: osteogenesis imperfecta type 7
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CRTAP osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 7" RELATED [GARD:0008701]
synonym: "OI type VII" RELATED [GARD:0008701]
synonym: "OI, type 7" RELATED [OMIM:610682]
synonym: "OI7" EXACT [DOID:0110337, MONDO:Lexical, OMIM:610682]
synonym: "osteogenesis imperfecta caused by mutation in CRTAP" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type VII" EXACT [DOID:0110337]
synonym: "osteogenesis imperfecta, type 7" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type IIb" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type IIb, formerly" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type VII" RELATED [MONDO:Lexical, OMIM:610682]
synonym: "osteogenesis imperfecta, type VII; OI7" RELATED [OMIM:610682]
xref: DOID:0110337 {source="MONDO:equivalentTo"}
xref: GARD:0008701 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110337"}
xref: OMIM:610682 {source="DOID:0110337", source="MONDO:equivalentTo"}
xref: SCTID:254111008 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1853162 {source="OMIM:610682", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:610682", source="DOID:0110337", source="MONDO:Redundant", source="OMIM:610682", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110337
property_value: exactMatch http://identifiers.org/omim/610682
property_value: exactMatch http://identifiers.org/snomedct/254111008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853162

[Term]
id: MONDO:0012537
name: SHFLD2
synonym: "SHFLD2" EXACT [MONDO:Lexical, OMIM:610685]
synonym: "split-hand/foot malformation with long bone deficiency 2" RELATED [MONDO:Lexical, OMIM:610685]
synonym: "split-hand/foot malformation with long bone deficiency 2; SHFLD2" RELATED [OMIM:610685]
xref: MESH:C565199 {source="MONDO:equivalentTo"}
xref: OMIM:610685 {source="MONDO:equivalentTo"}
xref: UMLS:C1853156 {source="OMIM:610685", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome
property_value: exactMatch http://identifiers.org/mesh/C565199
property_value: exactMatch http://identifiers.org/omim/610685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853156

[Term]
id: MONDO:0012538
name: nemaline myopathy 7
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM7" EXACT [DOID:0110934, MONDO:Lexical, OMIM:610687]
synonym: "nemaline myopathy 7" EXACT [MONDO:Lexical, OMIM:610687]
synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934]
synonym: "nemaline myopathy 7; NEM7" RELATED [OMIM:610687]
synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1, OMIM:610687]
xref: DOID:0110934 {source="MONDO:equivalentTo"}
xref: MESH:C565198 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"}
xref: UMLS:C1853154 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610687"}
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
property_value: exactMatch DOID:0110934
property_value: exactMatch http://identifiers.org/mesh/C565198
property_value: exactMatch http://identifiers.org/omim/610687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853154

[Term]
id: MONDO:0012539
name: Joubert syndrome 6
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "JBTS6" EXACT [DOID:0111001, MONDO:Lexical, OMIM:610688]
synonym: "Joubert syndrome 6" EXACT [MONDO:Lexical, OMIM:610688]
synonym: "Joubert syndrome 6; JBTS6" RELATED [OMIM:610688]
synonym: "Joubert syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 6" EXACT [DOID:0111001, MONDORULE:1, OMIM:610688]
synonym: "TMEM67 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111001 {source="MONDO:equivalentTo"}
xref: MESH:C537689 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610688 {source="MONDO:equivalentTo", source="DOID:0111001"}
xref: UMLS:C1853153 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610688"}
is_a: MONDO:0018772 {source="DC-OMIM:610688", source="DOID:0111001", source="MONDO:Redundant", source="OMIM:610688"} ! Joubert syndrome
property_value: exactMatch DOID:0111001
property_value: exactMatch http://identifiers.org/mesh/C537689
property_value: exactMatch http://identifiers.org/omim/610688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853153

[Term]
id: MONDO:0012540
name: age related macular degeneration 4
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 4" EXACT [DOID:0110017, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in CFH" EXACT [MONDO:design_pattern]
synonym: "ARMD4" EXACT [DOID:0110017, MONDO:Lexical, OMIM:610698]
synonym: "CFH age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 4" RELATED [MONDO:Lexical, OMIM:610698]
synonym: "macular degeneration, age-related, 4; ARMD4" RELATED [OMIM:610698]
synonym: "macular Degeneration, age-related, type 4" EXACT [MONDORULE:1, OMIM:610698]
xref: DOID:0110017 {source="MONDO:equivalentTo"}
xref: MESH:C565196 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610698 {source="DOID:0110017", source="MONDO:equivalentTo"}
xref: UMLS:C1853147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610698"}
is_a: MONDO:0005150 {source="DC-OMIM:610698", source="DOID:0110017", source="MONDO:Redundant", source="OMIM:610698"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110017
property_value: exactMatch http://identifiers.org/mesh/C565196
property_value: exactMatch http://identifiers.org/omim/610698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853147

[Term]
id: MONDO:0012541
name: deafness with labyrinthine aplasia, microtia, and microdontia
def: "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." [Orphanet:90024]
subset: ordo_malformation_syndrome {source="Orphanet:90024"}
synonym: "congenital deafness with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707]
synonym: "deafness congenital with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707]
synonym: "deafness with labyrinthine aplasia microtia and microdontia (LAMM)" RELATED [GARD:0010707]
synonym: "deafness with Lamm" RELATED [OMIM:610706]
synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdontia" RELATED [OMIM:610706]
synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [OMIM:610706]
synonym: "LAMM syndrome" EXACT [Orphanet:90024]
synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024]
xref: GARD:0010707 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q16.5 {source="ORDO:90024/attributed", source="ORDO:90024/ntbt", source="Orphanet:90024"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565195 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610706 {source="ORDO:90024/e", source="MONDO:equivalentTo", source="Orphanet:90024"}
xref: Orphanet:90024 {source="MONDO:equivalentTo", source="OMIM:610706"}
xref: SCTID:702360007 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"}
xref: UMLS:C1853144 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90024", source="OMIM:610706"}
is_a: MONDO:0019589 {source="Orphanet:90024"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C548011
property_value: exactMatch http://identifiers.org/mesh/C565195
property_value: exactMatch http://identifiers.org/omim/610706
property_value: exactMatch http://identifiers.org/snomedct/702360007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932664
property_value: exactMatch Orphanet:90024

[Term]
id: MONDO:0012542
name: PSORS8
synonym: "psoriasis 8, susceptibility to" RELATED [MONDO:Lexical, OMIM:610707]
synonym: "psoriasis 8, susceptibility to; PSORS8" RELATED [OMIM:610707]
synonym: "PSORS8" EXACT [MONDO:Lexical, OMIM:610707]
xref: OMIM:610707 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:610707", source="OMIM:610707"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853143
property_value: exactMatch http://identifiers.org/omim/610707

[Term]
id: MONDO:0012543
name: optic atrophy 5
synonym: "OPA5" EXACT [MONDO:Lexical, OMIM:610708]
synonym: "optic atrophy 5" RELATED [MONDO:Lexical, OMIM:610708]
synonym: "optic atrophy 5; OPA5" RELATED [OMIM:610708]
xref: GARD:0010201 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C537126 {source="MONDO:equivalentTo"}
xref: OMIM:610708 {source="MONDO:equivalentTo"}
xref: UMLS:C1853139 {source="OMIM:610708", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020250 ! autosomal dominant optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C537126
property_value: exactMatch http://identifiers.org/omim/610708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853139

[Term]
id: MONDO:0012544
name: brachydactyly-syndactyly syndrome
def: "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." [Orphanet:93409]
subset: ordo_malformation_syndrome {source="Orphanet:93409"}
synonym: "Bdsd" RELATED [OMIM:610713]
synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713]
synonym: "brachydactyly-syndactyly syndrome; BDSD" RELATED [OMIM:610713]
synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409]
synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713]
xref: DOID:0050689 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="ORDO:93409/attributed", source="ORDO:93409/ntbt", source="Orphanet:93409"}
xref: MESH:C565193 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610713 {source="DOID:0050689", source="MONDO:equivalentTo", source="ORDO:93409/e", source="Orphanet:93409"}
xref: Orphanet:93409 {source="MONDO:equivalentTo", source="OMIM:610713"}
xref: UMLS:C1853137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610713"}
is_a: MONDO:0000429 {source="DOID:0050689"} ! autosomal genetic disease
is_a: MONDO:0017434 {source="Orphanet:93409"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch DOID:0050689
property_value: exactMatch http://identifiers.org/mesh/C565193
property_value: exactMatch http://identifiers.org/omim/610713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853137
property_value: exactMatch Orphanet:93409

[Term]
id: MONDO:0012545
name: neutral lipid storage myopathy
subset: ordo_disease {source="Orphanet:98908"}
synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical, OMIM:610717]
synonym: "neutral lipid storage disease with myopathy without ichthyosis" EXACT [Orphanet:98908]
synonym: "neutral lipid storage disease with myopathy; NLSDM" RELATED [OMIM:610717]
synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717]
synonym: "NLSDM" EXACT [MONDO:Lexical, OMIM:610717, Orphanet:98908]
synonym: "triglyceride deposit cardiomyovasculopathy" EXACT [Orphanet:98908]
xref: GARD:0010288 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.5 {source="ORDO:98908/attributed", source="ORDO:98908/ntbt", source="Orphanet:98908"}
xref: OMIM:610717 {source="MONDO:equivalentTo", source="ORDO:98908/e", source="Orphanet:98908"}
xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"}
xref: SCTID:699315005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.68"}
is_a: MONDO:0015611 {source="MONDOLEX:0012545", source="Orphanet:98908"} ! neutral lipid storage disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853136
property_value: exactMatch http://identifiers.org/omim/610717
property_value: exactMatch http://identifiers.org/snomedct/699315005
property_value: exactMatch Orphanet:98908

[Term]
id: MONDO:0012546
name: nephrotic syndrome, type 3
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in PLCE1" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, early-onset, type 3" RELATED [OMIM:610725]
synonym: "nephrotic syndrome, type 3" EXACT [MONDO:Lexical, OMIM:610725]
synonym: "nephrotic syndrome, type 3; NPHS3" RELATED [OMIM:610725]
synonym: "NPHS3" RELATED [MONDO:Lexical, OMIM:610725]
synonym: "PLCE1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:610725 {source="MONDO:equivalentTo"}
xref: UMLS:C1853124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610725"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/610725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853124

[Term]
id: MONDO:0012547
name: Noonan syndrome 4
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010699"}
synonym: "Noonan syndrome 4" EXACT [MONDO:Lexical, OMIM:610733]
synonym: "Noonan syndrome 4; NS4" RELATED [OMIM:610733]
synonym: "Noonan syndrome caused by mutation in SOS1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 4" EXACT [DOID:0060582, MONDORULE:1, OMIM:610733]
synonym: "NS4" EXACT [DOID:0060582, MONDO:Lexical, OMIM:610733]
synonym: "SOS1 gene related Noonan syndrome" RELATED [GARD:0010699]
synonym: "SOS1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060582 {source="MONDO:equivalentTo"}
xref: GARD:0010699 {source="MONDO:equivalentTo"}
xref: MESH:C548082 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610733 {source="DOID:0060582", source="MONDO:equivalentTo"}
xref: UMLS:C1853120 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610733"}
is_a: MONDO:0018997 {source="DC-OMIM:610733", source="DOID:0060582", source="MESH:C548082", source="MONDO:Redundant", source="OMIM:610733"} ! Noonan syndrome
property_value: exactMatch DOID:0060582
property_value: exactMatch http://identifiers.org/mesh/C548082
property_value: exactMatch http://identifiers.org/omim/610733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 xsd:anyURI {source="GARD:0010699"}

[Term]
id: MONDO:0012548
name: Kostmann syndrome
def: "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." [Orphanet:99749]
subset: ordo_disease {source="Orphanet:99749"}
synonym: "agranulocytosis infantile" RELATED [GARD:0000302]
synonym: "agranulocytosis, infantile" RELATED [OMIM:610738]
synonym: "infantile agranulocytosis" EXACT [Orphanet:99749]
synonym: "Kostmann disease" RELATED [OMIM:610738]
synonym: "neutropenia, severe congenital, 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610738]
synonym: "neutropenia, severe congenital, 3, autosomal recessive; SCN3" RELATED [OMIM:610738]
synonym: "SCN3" RELATED [MONDO:Lexical, OMIM:610738]
synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302]
synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749]
xref: GARD:0000302 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:99749/ntbt", source="Orphanet:99749", source="ORDO:99749/inclusion"}
xref: OMIM:610738 {source="ORDO:99749/e", source="MONDO:equivalentTo", source="Orphanet:99749"}
xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"}
xref: UMLS:CN032247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:99749"} ! hereditary neoplastic syndrome
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: exactMatch http://identifiers.org/omim/610738
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032247
property_value: exactMatch Orphanet:99749

[Term]
id: MONDO:0012549
name: autosomal recessive ataxia, Beauce type
def: "gene mutations." [Orphanet:88644]
subset: ordo_disease {source="Orphanet:88644"}
synonym: "ARCA1" EXACT [Orphanet:88644]
synonym: "ataxia, recessive, of Beauce" RELATED [OMIM:610743]
synonym: "autosomal recessive ataxia Beauce type" RELATED [GARD:0012234]
synonym: "autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:88644]
synonym: "autosomal recessive spinocerebellar ataxia 8" RELATED [GARD:0012234]
synonym: "cerebellar ataxia, autosomal recessive, type 1" RELATED [OMIM:610743]
synonym: "recessive ataxia of Beauce" RELATED [GARD:0012234]
synonym: "SCAR8" EXACT [MONDO:Lexical, OMIM:610743, Orphanet:88644]
synonym: "spinocerebellar ataxia autosomal recessive 8" RELATED [GARD:0012234]
synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:610743]
synonym: "spinocerebellar ataxia, autosomal recessive 8; SCAR8" RELATED [OMIM:610743]
synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:610743]
synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234]
xref: GARD:0012234 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.2 {source="Orphanet:88644", source="ORDO:88644/attributed", source="ORDO:88644/ntbt"}
xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="ORDO:88644/e"}
xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"}
xref: UMLS:C1853116 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:88644", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610743"}
xref: UMLS:C3683483 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:88644", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/610743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3683483
property_value: exactMatch Orphanet:88644

[Term]
id: MONDO:0012550
name: iris pattern
synonym: "iris pattern" EXACT [OMIM:610744]
xref: OMIM:610744 {source="MONDO:equivalentTo"}
xref: UMLS:C1853115 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610744"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/610744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853115

[Term]
id: MONDO:0012551
name: AA2
synonym: "AA2" EXACT [MONDO:Lexical, OMIM:610753]
synonym: "alopecia areata 2" RELATED [MONDO:Lexical, OMIM:610753]
synonym: "alopecia areata 2; AA2" RELATED [OMIM:610753]
xref: MESH:C565186 {source="MONDO:equivalentTo"}
xref: OMIM:610753 {source="MONDO:equivalentTo"}
xref: UMLS:C1853104 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610753"}
is_a: MONDO:0008757 {source="ORDO:701/btnt"} ! alopecia universalis
is_a: MONDO:0019080 {source="ORDO:700/btnt"} ! alopecia totalis
property_value: exactMatch http://identifiers.org/mesh/C565186
property_value: exactMatch http://identifiers.org/omim/610753
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853104

[Term]
id: MONDO:0012552
name: multiple endocrine neoplasia type 4
def: "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." [Orphanet:276152]
subset: ordo_disease {source="Orphanet:276152"}
synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEN4" EXACT [MONDO:Lexical, OMIM:610755, Orphanet:276152]
synonym: "multiple endocrine neoplasia caused by mutation in CDKN1B" EXACT [MONDO:design_pattern]
synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755]
synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755]
synonym: "multiple endocrine neoplasia, type IV; MEN4" RELATED [OMIM:610755]
xref: DOID:0080137 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="ORDO:276152/attributed", source="ORDO:276152/ntbt", source="Orphanet:276152"}
xref: MESH:C567059 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610755 {source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152", source="ORDO:276152/e"}
xref: Orphanet:276152 {source="MONDO:equivalentTo", source="OMIM:610755"}
xref: SCTID:715907003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1970712 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610755", source="Orphanet:276152"}
xref: UMLS:C4274947 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0080137", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:C567059/inferred", source="MONDO:Entailed", source="indirect"} ! hereditary neoplastic syndrome
is_a: MONDO:0017169 {source="DC-OMIM:610755", source="MONDO:Redundant", source="OMIM:610755", source="linkedlifedata"} ! multiple endocrine neoplasia
property_value: exactMatch DOID:0080137
property_value: exactMatch http://identifiers.org/mesh/C567059
property_value: exactMatch http://identifiers.org/omim/610755
property_value: exactMatch http://identifiers.org/snomedct/715907003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274947
property_value: exactMatch Orphanet:276152

[Term]
id: MONDO:0012553
name: cerebrooculofacioskeletal syndrome 2
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [MONDO:Lexical, OMIM:610756]
synonym: "cerebrooculofacioskeletal syndrome 2; COFS2" EXACT [OMIM:610756]
synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1, OMIM:610756]
synonym: "COFS syndrome caused by mutation in ERCC2" EXACT [MONDO:design_pattern]
synonym: "COFS2" RELATED [MONDO:Lexical, OMIM:610756]
synonym: "ERCC2 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565185 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610756 {source="MONDO:equivalentTo"}
xref: UMLS:C1853102 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610756"}
is_a: MONDO:0008926 {source="DC-OMIM:610756", source="MONDO:Redundant", source="OMIM:610756"} ! COFS syndrome
property_value: exactMatch http://identifiers.org/mesh/C565185
property_value: exactMatch http://identifiers.org/omim/610756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853102

[Term]
id: MONDO:0012554
name: cerebrooculofacioskeletal syndrome 4
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebrooculofacioskeletal syndrome 4" EXACT [MONDO:Lexical, OMIM:610758]
synonym: "cerebrooculofacioskeletal syndrome 4; COFS4" EXACT [OMIM:610758]
synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1, OMIM:610758]
synonym: "COFS syndrome caused by mutation in ERCC1" EXACT [MONDO:design_pattern]
synonym: "COFS4" EXACT [MONDO:Lexical, OMIM:610758]
synonym: "ERCC1 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C565184 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610758 {source="MONDO:equivalentTo"}
xref: UMLS:C1853100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610758"}
is_a: MONDO:0008926 {source="DC-OMIM:610758", source="MONDO:Redundant", source="OMIM:610758"} ! COFS syndrome
property_value: exactMatch http://identifiers.org/mesh/C565184
property_value: exactMatch http://identifiers.org/omim/610758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853100

[Term]
id: MONDO:0012555
name: Cornelia de Lange syndrome 3
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDLS3" RELATED [MONDO:Lexical, OMIM:610759]
synonym: "Cornelia de Lange syndrome 3" EXACT [MONDO:Lexical, OMIM:610759]
synonym: "Cornelia DE Lange syndrome 3; CDLS3" RELATED [OMIM:610759]
synonym: "Cornelia de Lange syndrome caused by mutation in SMC3" EXACT []
synonym: "Cornelia de Lange syndrome caused by mutation in Smc3" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1, OMIM:610759]
synonym: "SMC3 Cornelia de Lange syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Smc3 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern]
xref: OMIM:610759 {source="MONDO:equivalentTo"}
xref: UMLS:C1853099 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610759"}
is_a: MONDO:0016033 {source="DC-OMIM:610759", source="MONDO:Redundant", source="OMIM:610759"} ! Cornelia de Lange syndrome
property_value: exactMatch http://identifiers.org/omim/610759
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853099

[Term]
id: MONDO:0012556
name: DK1-CDG
def: "gene led to a 96 to 98% reduction in DK activity." [Orphanet:91131]
subset: ordo_disease {source="Orphanet:91131"}
synonym: "carbohydrate deficient glycoprotein syndrome type Im" EXACT [Orphanet:91131]
synonym: "CDG Im" RELATED [OMIM:610768]
synonym: "CDG syndrome type Im" EXACT [Orphanet:91131]
synonym: "CDG-Im" EXACT [Orphanet:91131]
synonym: "CDG1M" EXACT [MONDO:Lexical, OMIM:610768, Orphanet:91131]
synonym: "CDGIm" RELATED [GARD:0012393]
synonym: "congenital disorder of glycosylation type 1m" EXACT [Orphanet:91131]
synonym: "congenital disorder of glycosylation type Im" EXACT [Orphanet:91131]
synonym: "congenital disorder of glycosylation, type Im" RELATED [MONDO:Lexical, OMIM:610768]
synonym: "congenital disorder of glycosylation, type Im; CDG1M" RELATED [OMIM:610768]
synonym: "Dk1 deficiency" RELATED [OMIM:610768]
synonym: "dolichol kinase deficiency" EXACT [OMIM:610768, Orphanet:91131]
synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393]
synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131]
xref: GARD:0012393 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:91131", source="ORDO:91131/attributed", source="ORDO:91131/ntbt"}
xref: MESH:C563666 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610768 {source="ORDO:91131/e", source="Orphanet:91131", source="MONDO:equivalentTo"}
xref: Orphanet:91131 {source="MONDO:equivalentTo", source="OMIM:610768"}
xref: SCTID:718712005 {source="MONDO:kboom-pr-1.00/0.79/8.54", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:610768", source="MONDOLEX:0012556"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017274 {source="Orphanet:91131"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation
is_a: MONDO:0018289 {source="Orphanet:91131"} ! congenital disorder of glycosylation with dilated cardiomyopathy
is_a: MONDO:0018293 {source="Orphanet:91131"} ! congenital disorder of glycosylation with skin involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835849
property_value: exactMatch http://identifiers.org/mesh/C563666
property_value: exactMatch http://identifiers.org/omim/610768
property_value: exactMatch http://identifiers.org/snomedct/718712005
property_value: exactMatch Orphanet:91131

[Term]
id: MONDO:0012557
name: cardiomyopathy-hypotonia-lactic acidosis syndrome
def: "gene encoding a mitochondrial membrane transporter." [Orphanet:91130]
subset: ordo_disease {source="Orphanet:91130"}
synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT []
synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773]
synonym: "Mpcd" RELATED [OMIM:610773]
xref: ICD10:G71.3 {source="Orphanet:91130", source="ORDO:91130/attributed", source="ORDO:91130/ntbt"}
xref: MESH:C563665 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="ORDO:91130/e"}
xref: Orphanet:91130 {source="OMIM:610773", source="MONDO:equivalentTo"}
xref: SCTID:718713000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835845 {source="Orphanet:91130", source="OMIM:610773", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4305259 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0006040 {source="linkedlifedata"} ! lactic acidosis
is_a: MONDO:0016327 ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016329 {source="Orphanet:91130"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0016801 {source="Orphanet:91130"} ! mitochondrial substrate carrier disorder
property_value: exactMatch http://identifiers.org/mesh/C563665
property_value: exactMatch http://identifiers.org/omim/610773
property_value: exactMatch http://identifiers.org/snomedct/718713000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305259
property_value: exactMatch Orphanet:91130

[Term]
id: MONDO:0012558
name: epiphyseal dysplasia, Baumann type
synonym: "epiphyseal dysplasia, Baumann type" EXACT [OMIM:610797]
xref: MESH:C563664 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610797 {source="MONDO:equivalentTo"}
xref: UMLS:C1835830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610797"}
is_a: MONDO:0003847 {source="MESH:C563664/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563664
property_value: exactMatch http://identifiers.org/omim/610797
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835830

[Term]
id: MONDO:0012559
name: primary immunodeficiency syndrome due to p14 deficiency
def: "infections." [Orphanet:90023]
subset: ordo_disease {source="Orphanet:90023"}
synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [OMIM:610798]
synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798]
synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023]
xref: ICD10:D82.8 {source="Orphanet:90023", source="ORDO:90023/attributed", source="ORDO:90023/ntbt"}
xref: MESH:C563663 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610798 {source="ORDO:90023/e", source="MONDO:equivalentTo", source="Orphanet:90023"}
xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"}
xref: SCTID:718717004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1835829 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90023", source="OMIM:610798", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4305256 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0018032 {source="Orphanet:90023"} ! constitutional neutropenia with extra-hematopoietic manifestations
property_value: exactMatch http://identifiers.org/mesh/C563663
property_value: exactMatch http://identifiers.org/omim/610798
property_value: exactMatch http://identifiers.org/snomedct/718717004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305256
property_value: exactMatch Orphanet:90023

[Term]
id: MONDO:0012560
name: invasive pneumococcal disease, recurrent isolated, 1
synonym: "invasive pneumococcal disease, protection against" RELATED [OMIM:610799]
synonym: "invasive pneumococcal disease, recurrent isolated, 1" EXACT [MONDO:Lexical, OMIM:610799]
synonym: "invasive pneumococcal disease, recurrent isolated, 1; IPD1" RELATED [OMIM:610799]
synonym: "invasive pneumococcal disease, recurrent isolated, type 1" EXACT [MONDORULE:1, OMIM:610799]
synonym: "IPD1" RELATED [MONDO:Lexical, OMIM:610799]
xref: MESH:C563662 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610799 {source="MONDO:equivalentTo"}
xref: UMLS:C1835828 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610799"}
is_a: MONDO:0000049 {source="DC-OMIM:610799", source="OMIM:610799"} ! invasive pneumococcal disease, recurrent isolated
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970686
property_value: exactMatch http://identifiers.org/mesh/C563662
property_value: exactMatch http://identifiers.org/omim/610799
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835828

[Term]
id: MONDO:0012561
name: congenital anomalies of kidney and urinary tract 1, susceptibility to
def: "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CAKUT1" RELATED [MONDO:Lexical, OMIM:610805]
synonym: "congenital anomalies of kidney and urinary tract 1" RELATED [OMIM:610805]
synonym: "congenital anomalies of kidney and urinary tract 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:610805]
synonym: "congenital anomalies of kidney and urinary tract 1, susceptibility to; CAKUT1" RELATED [OMIM:610805]
synonym: "congenital anomalies of kidney and urinary tract 1; CAKUT1" RELATED [OMIM:610805]
synonym: "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" EXACT [MONDO:design_pattern]
synonym: "DSTYK congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal hypodysplasia, nonsyndromic, 1" RELATED [OMIM:610805]
xref: DOID:0080206 {source="MONDO:equivalentTo"}
xref: MESH:C563661 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610805 {source="MONDO:equivalentTo", source="DOID:0080206"}
xref: UMLS:C1835826 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610805"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019719 {source="DOID:0080206", source="MONDO:Redundant", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract
property_value: exactMatch DOID:0080206
property_value: exactMatch http://identifiers.org/mesh/C563661
property_value: exactMatch http://identifiers.org/omim/610805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835826

[Term]
id: MONDO:0012562
name: holoprosencephaly 7
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "holoprosencephaly 7" EXACT [MONDO:Lexical, OMIM:610828]
synonym: "holoprosencephaly 7; HPE7" RELATED [OMIM:610828]
synonym: "holoprosencephaly caused by mutation in PTCH1" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 7" EXACT [DOID:0110876, MONDORULE:1, OMIM:610828]
synonym: "HPE7" EXACT [DOID:0110876, MONDO:Lexical, OMIM:610828]
synonym: "PTCH1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110876 {source="MONDO:equivalentTo"}
xref: MESH:C563660 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610828 {source="DOID:0110876", source="MONDO:equivalentTo"}
xref: UMLS:C1835820 {source="OMIM:610828", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="DC-OMIM:610828", source="DOID:0110876", source="MESH:C563660", source="MONDO:Redundant", source="OMIM:610828"} ! holoprosencephaly
property_value: exactMatch DOID:0110876
property_value: exactMatch http://identifiers.org/mesh/C563660
property_value: exactMatch http://identifiers.org/omim/610828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835820

[Term]
id: MONDO:0012563
name: holoprosencephaly 9
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GLI2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "holoprosencephaly 9" EXACT [MONDO:Lexical, OMIM:610829]
synonym: "holoprosencephaly 9; HPE9" RELATED [OMIM:610829]
synonym: "holoprosencephaly caused by mutation in GLI2" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 9" EXACT [DOID:0110873, MONDORULE:1, OMIM:610829]
synonym: "holoprosencephaly with microphthalmia and first branchial Arch anomalies" RELATED [OMIM:610829]
synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [DOID:0110873]
synonym: "HPE9" EXACT [DOID:0110873, MONDO:Lexical, OMIM:610829]
synonym: "pituitary anomalies with holoprosencephaly-like features" EXACT [DOID:0110873]
synonym: "pituitary anomalies with holoprosencephaly-like features" RELATED [OMIM:610829]
xref: DOID:0110873 {source="MONDO:equivalentTo"}
xref: OMIM:610829 {source="MONDO:equivalentTo", source="DOID:0110873"}
xref: UMLS:C1835819 {source="OMIM:610829", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016355 ! semilobar holoprosencephaly
is_a: MONDO:0017218 ! septopreoptic holoprosencephaly
is_a: MONDO:0017219 ! microform holoprosencephaly
is_a: MONDO:0019756 ! lobar holoprosencephaly
is_a: MONDO:0019757 ! alobar holoprosencephaly
is_a: MONDO:0019758 ! midline interhemispheric variant of holoprosencephaly
property_value: exactMatch DOID:0110873
property_value: exactMatch http://identifiers.org/omim/610829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835819

[Term]
id: MONDO:0012564
name: Polyosteolysis-hyperostosis syndrome
subset: gard_rare {source="GARD:0010456"}
synonym: "Polyosteolysis-hyperostosis syndrome" EXACT [OMIM:610830]
synonym: "Polyosteolysis/hyperostosis syndrome" RELATED [GARD:0010456]
xref: GARD:0010456 {source="MONDO:equivalentTo"}
xref: MESH:C563658 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610830 {source="MONDO:equivalentTo"}
xref: UMLS:C1835818 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610830"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563658
property_value: exactMatch http://identifiers.org/omim/610830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome xsd:anyURI {source="GARD:0010456"}

[Term]
id: MONDO:0012565
name: Fanconi anemia complementation group N
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FANCN" EXACT [DOID:0111094, MONDO:Lexical, OMIM:610832]
synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1]
synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical, OMIM:610832]
synonym: "Fanconi anemia, complementation group N; FANCN" RELATED [OMIM:610832]
synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832]
synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111094 {source="MONDO:equivalentTo"}
xref: MESH:C563657 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610832 {source="DOID:0111094", source="MONDO:equivalentTo"}
xref: UMLS:C1835817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610832"}
is_a: MONDO:0019391 {source="DC-OMIM:610832", source="DOID:0111094", source="MESH:C563657", source="MONDO:Redundant", source="OMIM:610832"} ! Fanconi anemia
property_value: exactMatch DOID:0111094
property_value: exactMatch http://identifiers.org/mesh/C563657
property_value: exactMatch http://identifiers.org/omim/610832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835817

[Term]
id: MONDO:0012566
name: AUTS11
subset: predisposition
synonym: "autism, susceptibility to, 11" RELATED [MONDO:Lexical, OMIM:610836]
synonym: "autism, susceptibility to, 11; AUTS11" RELATED [OMIM:610836]
synonym: "AUTS11" EXACT [MONDO:Lexical, OMIM:610836]
xref: OMIM:610836 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:610836", source="MONDOLEX:0012566", source="OMIM:610836"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970512
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/610836

[Term]
id: MONDO:0012567
name: AUTS12
subset: predisposition
synonym: "autism, susceptibility to, 12" RELATED [MONDO:Lexical, OMIM:610838]
synonym: "autism, susceptibility to, 12; AUTS12" RELATED [OMIM:610838]
synonym: "AUTS12" EXACT [MONDO:Lexical, OMIM:610838]
xref: OMIM:610838 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:610838", source="MONDOLEX:0012567", source="OMIM:610838"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970511
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/610838

[Term]
id: MONDO:0012568
name: OS4
synonym: "OS4" EXACT [MONDO:Lexical, OMIM:610839]
synonym: "osteoarthritis susceptibility 4" RELATED [MONDO:Lexical, OMIM:610839]
synonym: "osteoarthritis susceptibility 4; OS4" RELATED [OMIM:610839]
synonym: "osteoarthritis, generalized, without dysplasia" RELATED [OMIM:610839]
xref: OMIM:610839 {source="MONDO:equivalentTo"}
xref: UMLS:C1835815 {source="OMIM:610839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="DC-OMIM:610839", source="MONDOLEX:0012568"} ! osteoarthritis
property_value: exactMatch http://identifiers.org/omim/610839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835815

[Term]
id: MONDO:0012569
name: MMVP3
synonym: "mitral valve prolapse 3; MVP3" RELATED [OMIM:610840]
synonym: "mitral valve prolapse, myxomatous 3" RELATED [MONDO:Lexical, OMIM:610840]
synonym: "mitral valve prolapse, myxomatous 3; MMVP3" RELATED [OMIM:610840]
synonym: "MMVP3" EXACT [MONDO:Lexical, OMIM:610840]
synonym: "MVP3" RELATED [OMIM:610840]
synonym: "myxomatous mitral valve prolapse 3" RELATED [OMIM:610840]
xref: MESH:C563655 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610840 {source="MONDO:equivalentTo"}
xref: UMLS:C1835814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610840"}
is_a: MONDO:0008004 {source="MONDOLEX:0012569", source="ORDO:741/btnt"} ! familial mitral valve prolapse
property_value: exactMatch http://identifiers.org/mesh/C563655
property_value: exactMatch http://identifiers.org/omim/610840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835814

[Term]
id: MONDO:0012570
name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
def: "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." [Orphanet:91135]
subset: ordo_disease {source="Orphanet:91135"}
synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [OMIM:610842]
synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135]
synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842]
synonym: "PXE-like syndrome" EXACT [Orphanet:91135]
xref: ICD10:D68.4 {source="ORDO:91135/attributed", source="ORDO:91135/ntbt", source="Orphanet:91135"}
xref: MESH:C563654 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610842 {source="ORDO:91135/e", source="MONDO:equivalentTo", source="Orphanet:91135"}
xref: Orphanet:91135 {source="MONDO:equivalentTo", source="OMIM:610842"}
xref: SCTID:717941005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.58"}
xref: UMLS:C1835813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91135", source="OMIM:610842", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:C4049241 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0019292 {source="Orphanet:91135", source="Orphanet:91135/inferred"} ! dermis elastic tissue disorder
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
property_value: exactMatch http://identifiers.org/mesh/C563654
property_value: exactMatch http://identifiers.org/omim/610842
property_value: exactMatch http://identifiers.org/snomedct/717941005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049241
property_value: exactMatch Orphanet:91135

[Term]
id: MONDO:0012571
name: primary ciliary dyskinesia 6
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD6" EXACT [DOID:0110606, MONDO:Lexical, OMIM:610852]
synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical, OMIM:610852]
synonym: "ciliary dyskinesia, primary, 6; CILD6" RELATED [OMIM:610852]
synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1, OMIM:610852]
synonym: "NME8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia caused by mutation in NME8" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 6" EXACT [DOID:0110606, MONDORULE:1]
xref: DOID:0110606 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110606"}
xref: MESH:C567057 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610852 {source="DOID:0110606", source="MONDO:equivalentTo"}
xref: UMLS:C1970506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610852"}
is_a: MONDO:0016575 {source="DC-OMIM:610852", source="DOID:0110606", source="MESH:C567057", source="MONDO:Redundant", source="MONDOLEX:0012571", source="OMIM:610852"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110606
property_value: exactMatch http://identifiers.org/mesh/C567057
property_value: exactMatch http://identifiers.org/omim/610852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970506

[Term]
id: MONDO:0012572
name: Sakoda complex
subset: gard_rare {source="GARD:0009695"}
synonym: "Sakoda complex" EXACT [OMIM:610871]
synonym: "Sakoda spectrum" RELATED [OMIM:610871]
synonym: "sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate" RELATED [GARD:0009695]
synonym: "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate" RELATED [OMIM:610871]
xref: GARD:0009695 {source="MONDO:equivalentTo"}
xref: MESH:C567055 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610871 {source="MONDO:equivalentTo"}
xref: UMLS:C1970485 {source="NCBI:mim2gene_medline", source="OMIM:610871", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567055
property_value: exactMatch http://identifiers.org/omim/610871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970485
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex xsd:anyURI {source="GARD:0009695"}

[Term]
id: MONDO:0012573
name: vesicoureteral reflux 2
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ROBO2 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in ROBO2" EXACT []
synonym: "vesicoureteral reflux 2" EXACT [MONDO:Lexical, OMIM:610878]
synonym: "vesicoureteral reflux 2; VUR2" RELATED [OMIM:610878]
synonym: "vesicoureteral reflux type 2" EXACT [MONDORULE:1, OMIM:610878]
synonym: "VUR2" RELATED [MONDO:Lexical, OMIM:610878]
xref: MESH:C567053 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610878 {source="MONDO:equivalentTo"}
xref: UMLS:C1970483 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610878"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/mesh/C567053
property_value: exactMatch http://identifiers.org/omim/610878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970483

[Term]
id: MONDO:0012574
name: Potocki-Lupski syndrome
def: "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." [Orphanet:1713]
subset: ordo_malformation_syndrome {source="Orphanet:1713"}
synonym: "17p11.2 Duplication syndrome" EXACT [NCIT:C124846]
synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853]
synonym: "chromosome 17P11.2 Duplication syndrome" RELATED [OMIM:610883]
synonym: "chromosome 17p11.2 duplication syndrome" EXACT [DOID:0060853]
synonym: "Duplication 17p11.2 syndrome" RELATED [GARD:0010145]
synonym: "Potocki-Lupski syndrome" EXACT [MONDO:Lexical, OMIM:610883, Orphanet:1713]
synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" RELATED [GARD:0010145]
synonym: "Potocki-Lupski syndrome; PTLS" RELATED [OMIM:610883]
synonym: "PTLS" RELATED [MONDO:Lexical, OMIM:610883]
synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713]
xref: DOID:0060853 {source="MONDO:equivalentTo"}
xref: GARD:0010145 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q92.3 {source="ORDO:1713/attributed", source="ORDO:1713/ntbt", source="DOID:0060853", source="Orphanet:1713"}
xref: NCIT:C124846 {source="MONDO:kboom-pr-1.00/0.91/26.48", source="MONDO:equivalentTo"}
xref: OMIM:610883 {source="DOID:0060853", source="MONDO:equivalentTo", source="ORDO:1713/e", source="Orphanet:1713"}
xref: Orphanet:1713 {source="OMIM:610883", source="DOID:0060853", source="MONDO:equivalentTo"}
xref: SCTID:734016004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931246 {source="DOID:0060853", source="MONDO:equivalentTo", source="ORDO:1713/e", source="Orphanet:1713"}
is_a: MONDO:0000508 {source="Orphanet:1713"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DOID:0060853"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016950 {source="Orphanet:1713"} ! partial duplication of the short arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970482
property_value: exactMatch DOID:0060853
property_value: exactMatch http://identifiers.org/mesh/C536578
property_value: exactMatch http://identifiers.org/omim/610883
property_value: exactMatch http://identifiers.org/snomedct/734016004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931246
property_value: exactMatch NCIT:C124846
property_value: exactMatch Orphanet:1713

[Term]
id: MONDO:0012575
name: branchiootorenal syndrome 2
def: "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BOR2" RELATED [MONDO:Lexical, OMIM:610896]
synonym: "branchio-oto-renal syndrome caused by mutation in SIX5" EXACT [MONDO:design_pattern]
synonym: "branchiootorenal syndrome 2" EXACT [MONDO:Lexical, OMIM:610896]
synonym: "branchiootorenal syndrome 2; BOR2" RELATED [OMIM:610896]
synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1, OMIM:610896]
synonym: "SIX5 branchio-oto-renal syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:610896 {source="MONDO:equivalentTo"}
xref: UMLS:C1970479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610896"}
is_a: MONDO:0007029 {source="DC-OMIM:610896", source="MONDO:Redundant"} ! branchio-oto-renal syndrome
property_value: exactMatch http://identifiers.org/omim/610896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970479

[Term]
id: MONDO:0012576
name: PSNP3
synonym: "PSNP3" EXACT [MONDO:Lexical, OMIM:610898]
synonym: "supranuclear palsy, progressive, 3" RELATED [MONDO:Lexical, OMIM:610898]
synonym: "supranuclear palsy, progressive, 3; PSNP3" RELATED [OMIM:610898]
xref: MESH:C567050 {source="MONDO:equivalentTo"}
xref: OMIM:610898 {source="MONDO:equivalentTo"}
xref: UMLS:C1970476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610898"}
is_a: MONDO:0010997 {source="ORDO:240071/btnt"} ! classic progressive supranuclear palsy syndrome
property_value: exactMatch http://identifiers.org/mesh/C567050
property_value: exactMatch http://identifiers.org/omim/610898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970476

[Term]
id: MONDO:0012577
name: asthma-related traits, susceptibility to, 4
subset: predisposition
synonym: "ASRT4" RELATED [OMIM:610906]
synonym: "asthma and allergic rhinitis, susceptibility to" RELATED [OMIM:610906]
synonym: "asthma-related traits, susceptibility to, 4" EXACT [OMIM:610906]
synonym: "asthma-related traits, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610906]
xref: OMIM:610906 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012577"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970474
property_value: exactMatch http://identifiers.org/omim/610906

[Term]
id: MONDO:0012578
name: AUTS13
subset: predisposition
synonym: "autism, susceptibility to, 13" RELATED [MONDO:Lexical, OMIM:610908]
synonym: "autism, susceptibility to, 13; AUTS13" RELATED [OMIM:610908]
synonym: "AUTS13" EXACT [MONDO:Lexical, OMIM:610908]
xref: OMIM:610908 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:610908", source="MONDOLEX:0012578", source="OMIM:610908"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970473
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/610908

[Term]
id: MONDO:0012579
name: autoimmune pulmonary alveolar proteinosis
def: "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." [Orphanet:747]
subset: gard_rare {source="GARD:0007499"}
subset: ordo_disease {source="Orphanet:747"}
synonym: "acquired pulmonary alveolar proteinosis" RELATED [GARD:0007499]
synonym: "APAP" EXACT [Orphanet:747]
synonym: "autoimmune PAP" EXACT [Orphanet:747]
synonym: "idiopathic PAP" EXACT [Orphanet:747]
synonym: "idiopathic pulmonary alveolar proteinosis" EXACT [Orphanet:747]
synonym: "iPAP" EXACT [Orphanet:747]
synonym: "PAP" RELATED [GARD:0007499]
synonym: "PAP acquired" RELATED [GARD:0007499]
synonym: "Pap, acquired" RELATED [OMIM:610910]
synonym: "pulmonary alveolar lipoproteinosis acquired" RELATED [GARD:0007499]
synonym: "pulmonary alveolar lipoproteinosis, acquired" RELATED [OMIM:610910]
synonym: "pulmonary alveolar proteinosis acquired" RELATED [GARD:0007499]
synonym: "pulmonary alveolar proteinosis autoimmune" RELATED [GARD:0007499]
synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910]
synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910]
xref: GARD:0007499 {source="MONDO:equivalentTo"}
xref: ICD10:J84.0 {source="Orphanet:747", source="ORDO:747/ntbt"}
xref: MESH:C567049 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610910 {source="ORDO:747/e", source="MONDO:equivalentTo", source="Orphanet:747"}
xref: Orphanet:747 {source="MONDO:equivalentTo", source="OMIM:610910"}
xref: SCTID:707443007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1970472 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:747", source="OMIM:610910"}
is_a: MONDO:0001437 {source="MESH:C567049", source="MONDO:Redundant", source="MONDO:cjm"} ! pulmonary alveolar proteinosis
is_a: MONDO:0007179 ! autoimmune disease
is_a: MONDO:0017027 {source="Orphanet:747"} ! primary interstitial lung disease specific to adulthood
property_value: exactMatch http://identifiers.org/mesh/C567049
property_value: exactMatch http://identifiers.org/omim/610910
property_value: exactMatch http://identifiers.org/snomedct/707443007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970472
property_value: exactMatch Orphanet:747
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis xsd:anyURI {source="GARD:0007499"}

[Term]
id: MONDO:0012580
name: hereditary pulmonary alveolar proteinosis
def: "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." [Orphanet:264675]
subset: gard_rare
subset: ordo_disease {source="Orphanet:264675"}
synonym: "congenital PAP" EXACT [GARD:0004582, Orphanet:264675]
synonym: "congenital pulmonary alveolar proteinosis" EXACT [Orphanet:264675]
synonym: "hereditary pulmonary alveolar proteinosis" EXACT [MONDO:patterns/hereditary]
synonym: "inborn error of pulmonary surfactant metabolism" EXACT [MONDO:cjm]
synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582]
synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120]
xref: GARD:0004582 {source="MONDO:equivalentTo"}
xref: ICD10:J84.0 {source="ORDO:264675/attributed", source="ORDO:264675/ntbt", source="Orphanet:264675"}
xref: MESH:C535832 {source="MONDO:equivalentTo"}
xref: OMIMPS:265120 {source="MONDO:equivalentTo"}
xref: Orphanet:264675 {source="MONDO:equivalentTo", source="OMIM:610913", source="GARD:0004582"}
xref: SCTID:707442002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2931035 {source="MEDGEN:kboom-pr97-c99", source="ORDO:264675/e", source="MONDO:equivalentTo", source="Orphanet:264675", source="GARD:0004582"}
is_a: MONDO:0001437 {source="MESH:C535832", source="MONDO:Redundant", source="MONDO:cjm"} ! pulmonary alveolar proteinosis
is_a: MONDO:0015052 {source="Orphanet:264675"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
is_a: MONDO:0015133 {source="Orphanet:264675"} ! quantitative and/or qualitative congenital phagocyte defect
intersection_of: MONDO:0001437 ! pulmonary alveolar proteinosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C535832
property_value: exactMatch http://identifiers.org/snomedct/707442002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931035
property_value: exactMatch Orphanet:264675

[Term]
id: MONDO:0012581
name: osteogenesis imperfecta type 8
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI type VIII" RELATED [GARD:0010152]
synonym: "OI, type 8" RELATED [OMIM:610915]
synonym: "OI8" EXACT [DOID:0110336, MONDO:Lexical, OMIM:610915]
synonym: "osteogenesis imperfecta caused by mutation in P3H1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type VIII" EXACT [DOID:0110336]
synonym: "osteogenesis imperfecta, type 8" RELATED [OMIM:610915]
synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical, OMIM:610915]
synonym: "osteogenesis imperfecta, type VIII; OI8" RELATED [OMIM:610915]
synonym: "P3H1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110336 {source="MONDO:equivalentTo"}
xref: GARD:0010152 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="DOID:0110336", source="MONDO:subClassOf"}
xref: MESH:C536049 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610915 {source="DOID:0110336", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:610915", source="DOID:0110336", source="MESH:C536049", source="MONDO:Redundant", source="OMIM:610915"} ! osteogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970458
property_value: exactMatch DOID:0110336
property_value: exactMatch http://identifiers.org/mesh/C536049
property_value: exactMatch http://identifiers.org/omim/610915

[Term]
id: MONDO:0012582
name: interstitial lung disease due to ABCA3 deficiency
def: "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." [Orphanet:440402]
subset: ordo_disease {source="Orphanet:440402"}
synonym: "interstitial lung disease due to ABCA3 deficiency" EXACT [OMIM:610921]
synonym: "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" EXACT [Orphanet:440402]
synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [OMIM:610921]
synonym: "SMDP3" RELATED [MONDO:Lexical, OMIM:610921]
synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical, OMIM:610921]
synonym: "surfactant metabolism dysfunction, pulmonary, 3; SMDP3" RELATED [OMIM:610921]
synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1, OMIM:610921]
xref: ICD10:J84.8 {source="ORDO:440402/attributed", source="ORDO:440402/ntbt", source="Orphanet:440402"}
xref: MESH:C567046 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610921 {source="MONDO:equivalentTo", source="ORDO:440402/e", source="Orphanet:440402"}
xref: Orphanet:440402 {source="MONDO:equivalentTo"}
xref: UMLS:C1970456 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610921"}
is_a: MONDO:0012580 {source="MONDOLEX:0012582", source="OMIM:610921"} ! hereditary pulmonary alveolar proteinosis
property_value: exactMatch http://identifiers.org/mesh/C567046
property_value: exactMatch http://identifiers.org/omim/610921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970456
property_value: exactMatch Orphanet:440402

[Term]
id: MONDO:0012583
name: STHAG5
synonym: "he-Zhao deficiency" RELATED [OMIM:610926]
synonym: "hypodontia/oligodontia 5" RELATED [OMIM:610926]
synonym: "STHAG5" EXACT [MONDO:Lexical, OMIM:610926]
synonym: "tooth agenesis, selective, 5" RELATED [MONDO:Lexical, OMIM:610926]
synonym: "tooth agenesis, selective, 5; STHAG5" RELATED [OMIM:610926]
xref: MESH:C565757 {source="MONDO:equivalentTo"}
xref: OMIM:610926 {source="MONDO:equivalentTo"}
xref: UMLS:C1858210 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610926"}
is_a: MONDO:0005486 {source="DC-OMIM:610926", source="OMIM:610926"} ! tooth agenesis
property_value: exactMatch http://identifiers.org/mesh/C565757
property_value: exactMatch http://identifiers.org/omim/610926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858210

[Term]
id: MONDO:0012584
name: systemic lupus erythematosus, susceptibility to, 9
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CR2 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SLEB9" RELATED [MONDO:Lexical, OMIM:610927]
synonym: "susceptibility to systemic lupus erythematosus 9" RELATED [OMIM:610927]
synonym: "systemic lupus erythematosus (disease) caused by mutation in CR2" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:610927]
synonym: "systemic lupus erythematosus, susceptibility to, 9; SLEB9" RELATED [OMIM:610927]
synonym: "systemic lupus erythematosus, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:610927]
xref: OMIM:610927 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970455
property_value: exactMatch http://identifiers.org/omim/610927

[Term]
id: MONDO:0012585
name: coronary heart disease, susceptibility to, 7
def: "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CD36 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CHDS7" RELATED [MONDO:Lexical, OMIM:610938]
synonym: "coronary artery disease caused by mutation in CD36" EXACT [MONDO:design_pattern]
synonym: "coronary heart disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610938]
synonym: "coronary heart disease, susceptibility to, 7; CHDS7" RELATED [OMIM:610938]
synonym: "coronary heart disease, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610938]
synonym: "susceptibility to coronary heart disease 7" RELATED [OMIM:610938]
xref: OMIM:610938 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005010 ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970441
property_value: exactMatch http://identifiers.org/omim/610938

[Term]
id: MONDO:0012586
name: coronary artery disease, autosomal dominant 2
def: "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCAD2" RELATED [MONDO:Lexical, OMIM:610947]
synonym: "coronary artery disease caused by mutation in LRP6" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:610947]
synonym: "coronary artery disease, autosomal dominant 2; ADCAD2" RELATED [OMIM:610947]
synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:610947]
synonym: "LRP6 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567045 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610947 {source="MONDO:equivalentTo"}
xref: UMLS:C1970440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610947"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="DC-OMIM:610947", source="MESH:C567045", source="MONDO:Redundant", source="MONDOLEX:0012586"} ! coronary artery disease
property_value: closeMatch Orphanet:94062
property_value: exactMatch http://identifiers.org/mesh/C567045
property_value: exactMatch http://identifiers.org/omim/610947
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970440

[Term]
id: MONDO:0012587
name: hypertension, essential, susceptibility to, 7
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 7" EXACT [OMIM:610948]
synonym: "hypertension, essential, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610948]
synonym: "Hyt7" RELATED [OMIM:610948]
xref: OMIM:610948 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0012587", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970439
property_value: exactMatch http://identifiers.org/omim/610948

[Term]
id: MONDO:0012588
name: neuronal ceroid lipofuscinosis 7
def: "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes ( mutations ) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7]
subset: gard_rare {source="GARD:0001220"}
subset: ordo_etiological_subtype {source="Orphanet:228366"}
synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical, OMIM:610951]
synonym: "ceroid lipofuscinosis, neuronal, 7; CLN7" RELATED [OMIM:610951]
synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:610951]
synonym: "CLN7" EXACT [DOID:0110722, MONDO:Lexical, OMIM:610951]
synonym: "CLN7 disease" RELATED [GARD:0001220]
synonym: "CLN7 disease, late infantile" RELATED [GARD:0001220]
synonym: "MFSD8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1]
xref: DOID:0110722 {source="MONDO:equivalentTo"}
xref: GARD:0001220 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="DOID:0110722", source="Orphanet:228366", source="ORDO:228366/attributed", source="ORDO:228366/ntbt"}
xref: MESH:C563989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610951 {source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366", source="ORDO:228366/e"}
xref: Orphanet:228366 {source="DOID:0110722", source="MONDO:equivalentTo", source="OMIM:610951"}
is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid lipofuscinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838571
property_value: exactMatch DOID:0110722
property_value: exactMatch http://identifiers.org/mesh/C563989
property_value: exactMatch http://identifiers.org/omim/610951
property_value: exactMatch Orphanet:228366
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 xsd:anyURI {source="GARD:0001220"}

[Term]
id: MONDO:0012589
name: Pitt-Hopkins syndrome
def: "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." [Orphanet:2896]
subset: gard_rare {source="GARD:0004372"}
subset: ordo_malformation_syndrome {source="Orphanet:2896"}
synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [OMIM:610954]
synonym: "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" RELATED [GARD:0004372]
synonym: "mental retardation, Syndromal, with intermittent hyperventilation" RELATED [OMIM:610954]
synonym: "Pitt Hopkins syndrome" RELATED [GARD:0004372]
synonym: "Pitt-Hopkins syndrome" EXACT [MONDO:Lexical, OMIM:610954]
synonym: "Pitt-Hopkins syndrome; PTHS" RELATED [OMIM:610954]
synonym: "PTHS" RELATED [MONDO:Lexical, OMIM:610954]
xref: DOID:0060488 {source="MONDO:equivalentTo"}
xref: GARD:0004372 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2896", source="ORDO:2896/attributed", source="ORDO:2896/ntbt"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="ORDO:2896/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129872 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:610954 {source="DOID:0060488", source="Orphanet:2896", source="ORDO:2896/e", source="MONDO:equivalentTo"}
xref: Orphanet:2896 {source="DOID:0060488", source="MONDO:equivalentTo", source="OMIM:610954"}
xref: SCTID:702344008 {source="DOID:0060488", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1970431 {source="NCIT:C129872", source="DOID:0060488", source="Orphanet:2896", source="NCBI:mim2gene_medline", source="ORDO:2896/e", source="MONDO:equivalentTo", source="OMIM:610954"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2896", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:2896"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:2896"} ! monogenic epilepsy
property_value: exactMatch DOID:0060488
property_value: exactMatch http://identifiers.org/mesh/C537403
property_value: exactMatch http://identifiers.org/omim/610954
property_value: exactMatch http://identifiers.org/snomedct/702344008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970431
property_value: exactMatch NCIT:C129872
property_value: exactMatch Orphanet:2896
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome xsd:anyURI {source="GARD:0004372"}

[Term]
id: MONDO:0012590
name: XFE progeroid syndrome
def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." [DOID:0060590, PMID:17183314]
subset: gard_rare {source="GARD:0010628"}
synonym: "XFE progeroid syndrome" EXACT [MONDO:Lexical, OMIM:610965]
synonym: "XFE progeroid syndrome; XFEPS" RELATED [OMIM:610965]
synonym: "XFEPS" EXACT [DOID:0060590, MONDO:Lexical, OMIM:610965]
synonym: "XPF-ERCC1 progeroid syndrome" EXACT [DOID:0060590, OMIM:610965]
xref: DOID:0060590 {source="MONDO:equivalentTo"}
xref: GARD:0010628 {source="MONDO:equivalentTo"}
xref: MESH:C567043 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060590"}
xref: OMIM:610965 {source="MONDO:equivalentTo", source="DOID:0060590"}
xref: UMLS:C1970416 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610965"}
is_a: MONDO:0002254 {source="DOID:0060590", source="MONDOLEX:0012590"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C567043/inferred"} ! Mendelian disease
property_value: exactMatch DOID:0060590
property_value: exactMatch http://identifiers.org/mesh/C567043
property_value: exactMatch http://identifiers.org/omim/610965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970416
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome xsd:anyURI {source="GARD:0010628"}

[Term]
id: MONDO:0012591
name: osteogenesis imperfecta type 5
def: "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." [Orphanet:216828]
subset: ordo_clinical_subtype {source="Orphanet:216828"}
synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 5" EXACT [Orphanet:216828]
synonym: "OI type V" RELATED [GARD:0008699]
synonym: "OI with calcification in interosseous membranes" RELATED [GARD:0008699]
synonym: "OI, type 5" RELATED [OMIM:610967]
synonym: "OI5" EXACT [DOID:0110344, MONDO:Lexical, OMIM:610967]
synonym: "osteogenesis imperfecta caused by mutation in IFITM5" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type V" EXACT [DOID:0110344]
synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967]
synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967]
synonym: "osteogenesis imperfecta, type V; OI5" RELATED [OMIM:610967]
synonym: "type V OI" RELATED [GARD:0008699]
xref: DOID:0110344 {source="MONDO:equivalentTo"}
xref: GARD:0008699 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="ORDO:216828/attributed", source="ORDO:216828/ntbt", source="Orphanet:216828", source="DOID:0110344"}
xref: MESH:C567042 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="ORDO:216828/e", source="DOID:0110344"}
xref: Orphanet:216828 {source="MONDO:equivalentTo", source="OMIM:610967"}
xref: UMLS:C1970414 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:216828", source="OMIM:610967"}
is_a: MONDO:0019019 {source="DC-OMIM:610967", source="DOID:0110344", source="MESH:C567042", source="MONDO:Redundant", source="OMIM:610967", source="Orphanet:216828"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110344
property_value: exactMatch http://identifiers.org/mesh/C536046
property_value: exactMatch http://identifiers.org/mesh/C567042
property_value: exactMatch http://identifiers.org/omim/610967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931093
property_value: exactMatch Orphanet:216828

[Term]
id: MONDO:0012592
name: osteogenesis imperfecta type 11
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FKBP10 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 11" RELATED [GARD:0012875]
synonym: "OI type XI" RELATED [GARD:0012875]
synonym: "OI, type 11" RELATED [OMIM:610968]
synonym: "OI11" EXACT [DOID:0110351, MONDO:Lexical, OMIM:610968]
synonym: "osteogenesis imperfecta caused by mutation in FKBP10" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XI" EXACT [DOID:0110351]
synonym: "osteogenesis imperfecta, type 11" RELATED [OMIM:610968]
synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical, OMIM:610968]
synonym: "osteogenesis imperfecta, type XI; OI11" RELATED [OMIM:610968]
xref: DOID:0110351 {source="MONDO:equivalentTo"}
xref: GARD:0012875 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110351"}
xref: OMIM:610968 {source="MONDO:equivalentTo", source="DOID:0110351"}
xref: UMLS:C3151218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610968"}
is_a: MONDO:0019019 {source="DC-OMIM:610968", source="DOID:0110351", source="MONDO:Redundant", source="OMIM:610968"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110351
property_value: exactMatch http://identifiers.org/omim/610968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151218

[Term]
id: MONDO:0012593
name: brain-lung-thyroid syndrome
def: "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." [Orphanet:209905]
subset: gard_rare {source="GARD:0012163"}
subset: ordo_disease {source="Orphanet:209905"}
synonym: "BLT syndrome" RELATED [GARD:0012163]
synonym: "brain-lung-thyroid syndrome" EXACT [OMIM:610978]
synonym: "CAHTP" RELATED [MONDO:Lexical, OMIM:610978]
synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" RELATED [GARD:0012163, MONDO:Lexical, OMIM:610978]
synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; CAHTP" RELATED [OMIM:610978]
synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163]
synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905]
xref: GARD:0012163 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="Orphanet:209905", source="ORDO:209905/attributed", source="ORDO:209905/ntbt"}
xref: MESH:C567034 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610978 {source="Orphanet:209905", source="ORDO:209905/e", source="MONDO:equivalentTo"}
xref: Orphanet:209905 {source="MONDO:equivalentTo", source="OMIM:610978"}
xref: SCTID:719098007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015052 {source="Orphanet:209905"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
is_a: MONDO:0015778 {source="Orphanet:209905"} ! syndromic hypothyroidism
is_a: MONDO:0017646 {source="Orphanet:209905"} ! neurodegenerative disease with chorea
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970269
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970270
property_value: exactMatch http://identifiers.org/mesh/C567034
property_value: exactMatch http://identifiers.org/omim/610978
property_value: exactMatch http://identifiers.org/snomedct/719098007
property_value: exactMatch Orphanet:209905
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome xsd:anyURI {source="GARD:0012163"}

[Term]
id: MONDO:0012594
name: complement factor I deficiency
subset: ordo_disease {source="Orphanet:200418"}
synonym: "C3 inactivator deficiency" EXACT [DOID:0050419]
synonym: "CFID" RELATED [MONDO:Lexical, OMIM:610984]
synonym: "complement component 3 inactivator deficiency" EXACT [DOID:0050419, OMIM:610984]
synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984]
synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984]
synonym: "complement factor I deficiency; CFID" RELATED [OMIM:610984]
synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418]
xref: DOID:0050419 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="ORDO:200418/attributed", source="ORDO:200418/ntbt", source="Orphanet:200418"}
xref: MESH:C572568 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610984 {source="MONDO:equivalentTo", source="Orphanet:200418", source="ORDO:200418/e", source="DOID:0050419"}
xref: Orphanet:200418 {source="MONDO:equivalentTo", source="OMIM:610984"}
xref: UMLS:C3463916 {source="MONDO:equivalentTo", source="OMIM:610984", source="Orphanet:200418"}
is_a: MONDO:0003832 {source="DOID:0050419"} ! complement deficiency
is_a: MONDO:0018727 {source="Orphanet:200418"} ! immunodeficiency due to a complement regulatory deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001733
property_value: exactMatch DOID:0050419
property_value: exactMatch http://identifiers.org/mesh/C572568
property_value: exactMatch http://identifiers.org/omim/610984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463916
property_value: exactMatch Orphanet:200418

[Term]
id: MONDO:0012595
name: leprosy, susceptibility to, 4
def: "Any leprosy in which the cause of the disease is a mutation in the LTA gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in LTA" EXACT [MONDO:design_pattern]
synonym: "leprosy, early-onset, susceptibility to" RELATED [OMIM:610988]
synonym: "leprosy, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:610988]
synonym: "leprosy, susceptibility to, 4; LPRS4" RELATED [OMIM:610988]
synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610988]
synonym: "LPRS4" RELATED [MONDO:Lexical, OMIM:610988]
synonym: "LTA leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to leprosy 4" RELATED [OMIM:610988]
xref: OMIM:610988 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
relationship: predisposes_towards MONDO:0005124 ! leprosy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970254
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750103
property_value: exactMatch http://identifiers.org/omim/610988

[Term]
id: MONDO:0012596
name: PSAT deficiency
def: "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." [Orphanet:284417]
subset: ordo_disease {source="Orphanet:284417"}
synonym: "phosphoserine aminotransferase deficiency" EXACT [DOID:0050723, MONDO:Lexical, OMIM:610992]
synonym: "phosphoserine aminotransferase deficiency; PSATD" RELATED [OMIM:610992]
synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417]
synonym: "PSATD" RELATED [MONDO:Lexical, OMIM:610992]
xref: DOID:0050723 {source="MONDO:equivalentTo"}
xref: GARD:0013273 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="ORDO:284417/attributed", source="ORDO:284417/ntbt", source="Orphanet:284417"}
xref: MESH:C567032 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610992 {source="MONDO:equivalentTo", source="DOID:0050723", source="ORDO:284417/e", source="Orphanet:284417"}
xref: Orphanet:284417 {source="OMIM:610992", source="MONDO:equivalentTo"}
xref: SCTID:718603002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1970253 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:610992", source="MONDO:equivalentTo", source="Orphanet:284417"}
is_a: MONDO:0000508 {source="Orphanet:284417"} ! syndromic intellectual disability
is_a: MONDO:0018162 {source="Orphanet:284417"} ! neurometabolic disorder due to serine deficiency
property_value: exactMatch DOID:0050723
property_value: exactMatch http://identifiers.org/mesh/C567032
property_value: exactMatch http://identifiers.org/omim/610992
property_value: exactMatch http://identifiers.org/snomedct/718603002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970253
property_value: exactMatch Orphanet:284417

[Term]
id: MONDO:0012597
name: prostate cancer, hereditary, 9
synonym: "HPC9" RELATED [OMIM:610997]
synonym: "prostate cancer, hereditary, 9" EXACT [OMIM:610997]
synonym: "prostate cancer, hereditary, type 9" EXACT [MONDORULE:1, OMIM:610997]
xref: MESH:C567031 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:610997 {source="MONDO:equivalentTo"}
xref: UMLS:C1970250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610997"}
is_a: MONDO:0023122 {source="MONDOLEX:0012597"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567031
property_value: exactMatch http://identifiers.org/omim/610997
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970250

[Term]
id: MONDO:0012598
name: GINGF4
synonym: "fibromatosis gingival, hereditary, 4" RELATED [GARD:0002475]
synonym: "fibromatosis, gingival, 4" RELATED [MONDO:Lexical, OMIM:611010]
synonym: "fibromatosis, gingival, 4; GINGF4" RELATED [OMIM:611010]
synonym: "fibromatosis, gingival, hereditary, 4" RELATED [OMIM:611010]
synonym: "GGF4" RELATED [OMIM:611010]
synonym: "GINGF4" EXACT [MONDO:Lexical, OMIM:611010]
synonym: "gingival fibromatosis, 4" RELATED [GARD:0002475]
synonym: "hereditary gingival fibromatosis, 4" RELATED [GARD:0002475]
synonym: "HGF4" RELATED [GARD:0002475]
xref: GARD:0002475 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567028 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611010 {source="MONDO:equivalentTo"}
is_a: MONDO:0016070 {source="DC-OMIM:611010", source="OMIM:611010"} ! hereditary gingival fibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970245
property_value: exactMatch http://identifiers.org/mesh/C567028
property_value: exactMatch http://identifiers.org/omim/611010

[Term]
id: MONDO:0012599
name: HYT8
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:611014]
synonym: "hypertension, essential, susceptibility to, 8; HYT8" RELATED [OMIM:611014]
synonym: "HYT8" EXACT [MONDO:Lexical, OMIM:611014]
xref: OMIM:611014 {source="MONDO:equivalentTo"}
is_a: MONDO:0007781 {source="MONDOLEX:0012599", source="OWLReasoner:2017"} ! essential hypertension, genetic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970244
property_value: exactMatch http://identifiers.org/omim/611014

[Term]
id: MONDO:0012600
name: AUTS9
subset: predisposition
synonym: "autism, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:611015]
synonym: "autism, susceptibility to, 9; AUTS9" RELATED [OMIM:611015]
synonym: "AUTS9" EXACT [MONDO:Lexical, OMIM:611015]
xref: OMIM:611015 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:611015", source="MONDOLEX:0012600", source="OMIM:611015"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970243
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/611015

[Term]
id: MONDO:0012601
name: AUTS10
subset: predisposition
synonym: "autism, susceptibility to, 10" RELATED [MONDO:Lexical, OMIM:611016]
synonym: "autism, susceptibility to, 10; AUTS10" RELATED [OMIM:611016]
synonym: "AUTS10" EXACT [MONDO:Lexical, OMIM:611016]
xref: OMIM:611016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:611016", source="MONDOLEX:0012601", source="OMIM:611016"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970242
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/611016

[Term]
id: MONDO:0012602
name: autosomal recessive nonsyndromic deafness 24
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 24" EXACT [DOID:0110482]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 24" EXACT [DOID:0110482, MONDORULE:2]
synonym: "deafness, autosomal recessive 24" RELATED [MONDO:Lexical, OMIM:611022]
synonym: "deafness, autosomal recessive 24; DFNB24" RELATED [OMIM:611022]
synonym: "deafness, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:611022]
synonym: "DFNB24" EXACT [DOID:0110482, MONDO:Lexical, OMIM:611022]
synonym: "RDX autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110482 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110482"}
xref: MESH:C567027 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611022 {source="MONDO:equivalentTo", source="DOID:0110482"}
xref: UMLS:C1970239 {source="OMIM:611022", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:611022", source="DOID:0110482", source="MONDO:Redundant", source="OMIM:611022"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110482
property_value: exactMatch http://identifiers.org/mesh/C567027
property_value: exactMatch http://identifiers.org/omim/611022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970239

[Term]
id: MONDO:0012603
name: episodic kinesigenic dyskinesia 2
def: "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in variation in the chromosome region 16q13-q22.1." [DOID:0090054]
synonym: "dystonia 19" RELATED [OMIM:611031]
synonym: "EKD2" RELATED [MONDO:Lexical, OMIM:611031]
synonym: "episodic kinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611031]
synonym: "episodic kinesigenic dyskinesia 2; EKD2" RELATED [OMIM:611031]
synonym: "episodic kinesigenic dyskinesia type 2" EXACT [DOID:0090054, MONDORULE:1]
xref: DOID:0090054 {source="MONDO:equivalentTo"}
xref: ICD10:G24.8 {source="DOID:0090054"}
xref: MESH:C567026 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611031 {source="DOID:0090054", source="MONDO:equivalentTo"}
xref: UMLS:C1970238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611031"}
is_a: MONDO:0044202 {source="OMIM:611031"} ! episodic kinesigenic dyskinesia
property_value: exactMatch DOID:0090054
property_value: exactMatch http://identifiers.org/mesh/C567026
property_value: exactMatch http://identifiers.org/omim/611031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970238

[Term]
id: MONDO:0012604
name: isolated microphthalmia 3
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in RAX" EXACT []
synonym: "isolated microphthalmia caused by mutation in rax" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 3" EXACT [DOID:0060842, MONDORULE:1]
synonym: "MCOP3" EXACT [DOID:0060842, MONDO:Lexical, OMIM:611038]
synonym: "microphthalmia, isolated 3" RELATED [MONDO:Lexical, OMIM:611038]
synonym: "microphthalmia, isolated 3; MCOP3" RELATED [OMIM:611038]
synonym: "microphthalmia, isolated type 3" EXACT [MONDORULE:1, OMIM:611038]
synonym: "RAX isolated microphthalmia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "rax isolated microphthalmia" EXACT [MONDO:design_pattern]
xref: DOID:0060842 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060842"}
xref: MESH:C567025 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611038 {source="DOID:0060842", source="MONDO:equivalentTo"}
xref: UMLS:C1970237 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611038"}
is_a: MONDO:0000062 {source="DC-OMIM:611038", source="MONDO:Redundant", source="MONDOLEX:0012604", source="OMIM:611038"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060842
property_value: exactMatch http://identifiers.org/mesh/C567025
property_value: exactMatch http://identifiers.org/omim/611038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970237

[Term]
id: MONDO:0012605
name: isolated microphthalmia 5
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:251279"}
synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 5" EXACT [DOID:0060837, MONDORULE:1]
synonym: "MCOP5" EXACT [DOID:0060837, MONDO:Lexical, OMIM:611040]
synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040]
synonym: "microphthalmia, isolated 5; MCOP5" RELATED [OMIM:611040]
synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040]
synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [OMIM:611040]
synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [DOID:0060837]
synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [Orphanet:251279]
synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT [DOID:0060837]
xref: DOID:0060837 {source="MONDO:equivalentTo"}
xref: ICD10:Q15.8 {source="ORDO:251279/attributed", source="ORDO:251279/ntbt", source="Orphanet:251279", source="DOID:0060837"}
xref: MESH:C567024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611040 {source="MONDO:equivalentTo", source="ORDO:251279/e", source="Orphanet:251279", source="DOID:0060837"}
xref: Orphanet:251279 {source="MONDO:equivalentTo", source="DOID:0060837", source="OMIM:611040"}
xref: UMLS:C1970236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251279", source="MEDGEN:kboom-pr92-c96", source="OMIM:611040"}
is_a: MONDO:0000062 {source="DC-OMIM:611040", source="MONDO:Redundant", source="MONDOLEX:0012605", source="OMIM:611040"} ! isolated microphthalmia
property_value: exactMatch DOID:0060837
property_value: exactMatch http://identifiers.org/mesh/C567024
property_value: exactMatch http://identifiers.org/omim/611040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970236
property_value: exactMatch Orphanet:251279

[Term]
id: MONDO:0012606
name: mycobacterium tuberculosis, susceptibility to, 2
subset: predisposition
synonym: "MTBS2" RELATED [OMIM:611046]
synonym: "mycobacterium tuberculosis, susceptibility to, 2" EXACT [OMIM:611046]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:611046]
xref: OMIM:611046 {source="MONDO:equivalentTo"}
is_a: MONDO:0000070 {source="DC-OMIM:611046", source="MONDOLEX:0012606"} ! mycobacterium tuberculosis, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970235
property_value: exactMatch http://identifiers.org/omim/611046

[Term]
id: MONDO:0012607
name: asthma-related traits, susceptibility to, 5
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT5" RELATED [OMIM:611064]
synonym: "asthma-related traits, susceptibility to, 5" EXACT [OMIM:611064]
synonym: "asthma-related traits, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:611064]
synonym: "inherited susceptibility to asthma caused by mutation in IRAK3" EXACT [MONDO:design_pattern]
synonym: "IRAK3 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:611064 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012607"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970224
property_value: exactMatch http://identifiers.org/omim/611064

[Term]
id: MONDO:0012608
name: autosomal recessive lower motor neuron disease with childhood onset
def: "Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." [Orphanet:206580]
subset: ordo_disease {source="Orphanet:206580"}
synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [Orphanet:206580]
synonym: "distal spinal muscular atrophy type 4" EXACT [Orphanet:206580]
synonym: "DSMA4" RELATED [MONDO:Lexical, OMIM:611067]
synonym: "dSMA4" EXACT [Orphanet:206580]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 4; DSMA4" RELATED [OMIM:611067]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:206580/attributed", source="ORDO:206580/ntbt", source="Orphanet:206580"}
xref: MESH:C567023 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="ORDO:206580/e"}
xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"}
xref: UMLS:C1970211 {source="MEDGEN:kboom-pr98-c99", source="OMIM:611067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:206580"}
is_a: MONDO:0016116 {source="Orphanet:206580"} ! generalized bulbospinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C567023
property_value: exactMatch http://identifiers.org/omim/611067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970211
property_value: exactMatch Orphanet:206580

[Term]
id: MONDO:0012609
name: Alzheimer disease 12
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." [DOID:0110045, PMID:16825432]
synonym: "AD12" EXACT [DOID:0110045]
synonym: "Ad12" RELATED [OMIM:611073]
synonym: "Alzheimer disease 12" EXACT [DOID:0110045, OMIM:611073]
synonym: "Alzheimer disease familial 12" EXACT [DOID:0110045]
synonym: "Alzheimer disease type 12" EXACT [MONDORULE:2, OMIM:611073]
synonym: "Alzheimer disease, familial, 12" RELATED [OMIM:611073]
synonym: "Alzheimer's disease 12" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 12" EXACT [DOID:0110045, MONDORULE:2]
xref: DOID:0110045 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110045"}
xref: MESH:C567022 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611073 {source="MONDO:equivalentTo", source="DOID:0110045"}
xref: UMLS:C1970209 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611073"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110045
property_value: exactMatch http://identifiers.org/mesh/C567022
property_value: exactMatch http://identifiers.org/omim/611073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970209

[Term]
id: MONDO:0012610
name: inflammatory bowel disease 10
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATG16L1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBD10" EXACT [DOID:0110885, MONDO:Lexical, OMIM:611081]
synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [DOID:0110885]
synonym: "inflammatory bowel disease (Crohn disease) 10; IBD10" RELATED [OMIM:611081]
synonym: "inflammatory bowel disease 10" EXACT [MONDO:Lexical, OMIM:611081]
synonym: "inflammatory bowel disease 10; IBD10" RELATED [OMIM:611081]
synonym: "inflammatory bowel disease caused by mutation in ATG16L1" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 10" EXACT [DOID:0110885, MONDORULE:2, OMIM:611081]
xref: DOID:0110885 {source="MONDO:equivalentTo"}
xref: MESH:C567021 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611081 {source="DOID:0110885", source="MONDO:equivalentTo"}
xref: UMLS:C1970207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611081"}
is_a: MONDO:0005265 {source="DC-OMIM:611081", source="DOID:0110885", source="MESH:C567021", source="MONDO:Redundant", source="OMIM:611081"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110885
property_value: exactMatch http://identifiers.org/mesh/C567021
property_value: exactMatch http://identifiers.org/omim/611081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970207

[Term]
id: MONDO:0012611
name: polyhydramnios, megalencephaly, and symptomatic epilepsy
subset: ordo_disease
synonym: "PMSE" RELATED [MONDO:Lexical, OMIM:611087]
synonym: "PMSE syndrome" EXACT [OMIM:611087, Orphanet:500533]
synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [MONDO:Lexical, OMIM:611087]
synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" RELATED [GARD:0012913]
synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE" RELATED [OMIM:611087]
synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [Orphanet:500533]
synonym: "pretzel syndrome" RELATED [GARD:0012913]
xref: GARD:0012913 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567020 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611087 {source="Orphanet:500533", source="MONDO:equivalentTo"}
xref: Orphanet:500533 {source="MONDO:equivalentTo"}
xref: UMLS:C1970203 {source="OMIM:611087", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500533", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015653 {source="Orphanet:500533"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/mesh/C567020
property_value: exactMatch http://identifiers.org/omim/611087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970203
property_value: exactMatch Orphanet:500533

[Term]
id: MONDO:0012612
name: intellectual disability, autosomal recessive 12
synonym: "mental retardation, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:611090]
synonym: "mental retardation, autosomal recessive 12; MRT12" RELATED [OMIM:611090]
synonym: "mental retardation, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:611090]
synonym: "MRT12" RELATED [MONDO:Lexical, OMIM:611090]
xref: MESH:C567019 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611090 {source="MONDO:equivalentTo"}
xref: UMLS:C1970200 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611090"}
is_a: MONDO:0019502 {source="DC-OMIM:611090", source="OMIM:611090"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567019
property_value: exactMatch http://identifiers.org/omim/611090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970200

[Term]
id: MONDO:0012613
name: intellectual disability, autosomal recessive 5
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:611091]
synonym: "mental retardation, autosomal recessive 5; MRT5" RELATED [OMIM:611091]
synonym: "mental retardation, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:611091]
synonym: "MRT5" RELATED [MONDO:Lexical, OMIM:611091]
synonym: "NSUN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567018 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611091 {source="MONDO:equivalentTo"}
xref: UMLS:C1970199 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611091"}
is_a: MONDO:0019502 {source="DC-OMIM:611091", source="MONDO:Redundant", source="OMIM:611091"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567018
property_value: exactMatch http://identifiers.org/omim/611091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970199

[Term]
id: MONDO:0012614
name: intellectual disability, autosomal recessive 6
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" EXACT [MONDO:design_pattern]
synonym: "GRIK2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611092]
synonym: "mental retardation, autosomal recessive 6; MRT6" RELATED [OMIM:611092]
synonym: "mental retardation, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611092]
synonym: "MRT6" RELATED [MONDO:Lexical, OMIM:611092]
xref: MESH:C567017 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611092 {source="MONDO:equivalentTo"}
xref: UMLS:C1970198 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611092"}
is_a: MONDO:0019502 {source="DC-OMIM:611092", source="MONDO:Redundant", source="OMIM:611092"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567017
property_value: exactMatch http://identifiers.org/omim/611092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970198

[Term]
id: MONDO:0012615
name: intellectual disability, autosomal recessive 7
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 22" RELATED [OMIM:611093]
synonym: "mental retardation, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:611093]
synonym: "mental retardation, autosomal recessive 7; MRT7" RELATED [OMIM:611093]
synonym: "mental retardation, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:611093]
synonym: "MRT7" RELATED [MONDO:Lexical, OMIM:611093]
synonym: "TUSC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567016 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611093 {source="MONDO:equivalentTo"}
xref: UMLS:C1970197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611093"}
is_a: MONDO:0019502 {source="DC-OMIM:611093", source="MONDO:Redundant", source="OMIM:611093"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567016
property_value: exactMatch http://identifiers.org/omim/611093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970197

[Term]
id: MONDO:0012616
name: MRT8
synonym: "mental retardation, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:611094]
synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED [OMIM:611094]
synonym: "moved to 614300" RELATED [OMIM:611094]
synonym: "MRT8" EXACT [MONDO:Lexical, OMIM:611094]
xref: OMIM:611094 {source="MONDO:equivalentTo"}
xref: UMLS:C1970196 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611094"}
is_a: MONDO:0019502 {source="DC-OMIM:611094"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/611094
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970196

[Term]
id: MONDO:0012617
name: MRT9
synonym: "mental retardation, autosomal recessive 26" RELATED [OMIM:611095]
synonym: "mental retardation, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:611095]
synonym: "mental retardation, autosomal recessive 9; MRT9" RELATED [OMIM:611095]
synonym: "MRT9" EXACT [MONDO:Lexical, OMIM:611095]
xref: MESH:C567014 {source="MONDO:equivalentTo"}
xref: OMIM:611095 {source="MONDO:equivalentTo"}
xref: UMLS:C1970195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611095"}
is_a: MONDO:0019502 {source="DC-OMIM:611095", source="OMIM:611095"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567014
property_value: exactMatch http://identifiers.org/omim/611095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970195

[Term]
id: MONDO:0012618
name: MRT10
synonym: "mental retardation, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:611096]
synonym: "mental retardation, autosomal recessive 10; MRT10" RELATED [OMIM:611096]
synonym: "mental retardation, autosomal recessive 20" RELATED [OMIM:611096]
synonym: "MRT10" EXACT [MONDO:Lexical, OMIM:611096]
xref: MESH:C567013 {source="MONDO:equivalentTo"}
xref: OMIM:611096 {source="MONDO:equivalentTo"}
xref: UMLS:C1970194 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611096"}
is_a: MONDO:0019502 {source="DC-OMIM:611096", source="OMIM:611096"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567013
property_value: exactMatch http://identifiers.org/omim/611096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970194

[Term]
id: MONDO:0012619
name: MRT11
synonym: "mental retardation, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:611097]
synonym: "mental retardation, autosomal recessive 11; MRT11" RELATED [OMIM:611097]
synonym: "MRT11" EXACT [MONDO:Lexical, OMIM:611097]
xref: MESH:C567012 {source="MONDO:equivalentTo"}
xref: OMIM:611097 {source="MONDO:equivalentTo"}
xref: UMLS:C1970193 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611097"}
is_a: MONDO:0019502 {source="DC-OMIM:611097", source="OMIM:611097"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567012
property_value: exactMatch http://identifiers.org/omim/611097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970193

[Term]
id: MONDO:0012620
name: HPC10
synonym: "HPC10" EXACT [MONDO:Lexical, OMIM:611100]
synonym: "prostate cancer, hereditary, 10" RELATED [MONDO:Lexical, OMIM:611100]
synonym: "prostate cancer, hereditary, 10; HPC10" RELATED [OMIM:611100]
xref: MESH:C567011 {source="MONDO:equivalentTo"}
xref: OMIM:611100 {source="MONDO:equivalentTo"}
xref: UMLS:C1970192 {source="OMIM:611100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDOLEX:0012620"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567011
property_value: exactMatch http://identifiers.org/omim/611100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970192

[Term]
id: MONDO:0012621
name: deafness-infertility syndrome
def: "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." [Orphanet:94064]
subset: gard_rare {source="GARD:0011911"}
subset: ordo_malformation_syndrome {source="Orphanet:94064"}
synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [OMIM:611102]
synonym: "deafness, sensorineural, and Male infertility" RELATED [OMIM:611102]
synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102]
synonym: "deafness-infertility syndrome; dis" RELATED [OMIM:611102]
synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064]
synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911]
xref: GARD:0011911 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:94064/attributed", source="ORDO:94064/ntbt", source="Orphanet:94064"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611102 {source="MONDO:equivalentTo", source="ORDO:94064/e", source="Orphanet:94064"}
xref: Orphanet:94064 {source="OMIM:611102", source="MONDO:equivalentTo"}
xref: SCTID:700489002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0016913 {source="Orphanet:94064"} ! partial deletion of the long arm of chromosome 15
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018395 {source="Orphanet:94064"} ! male infertility due to sperm motility disorder
is_a: MONDO:0019589 {source="Orphanet:94064"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970187
property_value: exactMatch http://identifiers.org/mesh/C567010
property_value: exactMatch http://identifiers.org/omim/611102
property_value: exactMatch http://identifiers.org/snomedct/700489002
property_value: exactMatch Orphanet:94064
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome xsd:anyURI {source="GARD:0011911"}

[Term]
id: MONDO:0012622
name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
def: "This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." [Orphanet:137898]
subset: ordo_disease {source="Orphanet:137898"}
synonym: "LBSL" EXACT [MONDO:Lexical, OMIM:611105, Orphanet:137898]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement - high lactate" RELATED [GARD:0012652]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation" RELATED [GARD:0012652]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" RELATED [GARD:0012652]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" EXACT [Orphanet:137898]
synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105]
synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; LBSL" RELATED [OMIM:611105]
synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105]
xref: GARD:0012652 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:137898", source="ORDO:137898/attributed", source="ORDO:137898/ntbt"}
xref: MESH:C567009 {source="MONDO:equivalentTo"}
xref: OMIM:611105 {source="ORDO:137898/e", source="Orphanet:137898", source="MONDO:equivalentTo"}
xref: Orphanet:137898 {source="MONDO:equivalentTo", source="OMIM:611105"}
xref: SCTID:703537008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015919 {source="Orphanet:137898"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0018157 {source="Orphanet:137898"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019046 {source="Orphanet:137898"} ! leukodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970180
property_value: exactMatch http://identifiers.org/mesh/C567009
property_value: exactMatch http://identifiers.org/omim/611105
property_value: exactMatch http://identifiers.org/snomedct/703537008
property_value: exactMatch Orphanet:137898

[Term]
id: MONDO:0012623
name: MRT4
synonym: "mental retardation, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611107]
synonym: "mental retardation, autosomal recessive 4; MRT4" RELATED [OMIM:611107]
synonym: "MRT4" EXACT [MONDO:Lexical, OMIM:611107]
xref: MESH:C567008 {source="MONDO:equivalentTo"}
xref: OMIM:611107 {source="MONDO:equivalentTo"}
xref: UMLS:C1970179 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611107"}
is_a: MONDO:0019502 {source="DC-OMIM:611107", source="OMIM:611107"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567008
property_value: exactMatch http://identifiers.org/omim/611107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970179

[Term]
id: MONDO:0012624
name: acyl-CoA dehydrogenase 9 deficiency
def: "Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." [Orphanet:99901]
subset: ordo_disease {source="Orphanet:99901"}
synonym: "ACAD9 deficiency" EXACT [Orphanet:99901]
synonym: "Acad9 deficiency" RELATED [OMIM:611126]
synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT [OMIM:611126]
synonym: "mitochondrial Complex 1 deficiency due to Acad9 deficiency" RELATED [OMIM:611126]
synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" RELATED [OMIM:611126]
xref: ICD10:E71.3 {source="Orphanet:99901", source="ORDO:99901/attributed", source="ORDO:99901/ntbt"}
xref: MESH:C567006 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611126 {source="ORDO:99901/e", source="MONDO:equivalentTo", source="Orphanet:99901"}
xref: Orphanet:99901 {source="MONDO:equivalentTo", source="OMIM:611126"}
xref: SCTID:725046003 {source="MONDO:equivalentTo"}
xref: UMLS:C1970173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611126", source="Orphanet:99901", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016327 ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016328 {source="Orphanet:99901"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
is_a: MONDO:0016336 {source="Orphanet:99901"} ! fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
is_a: MONDO:0016804 {source="Orphanet:99901"} ! exercise intolerance with lactic acidosis
property_value: exactMatch http://identifiers.org/mesh/C567006
property_value: exactMatch http://identifiers.org/omim/611126
property_value: exactMatch http://identifiers.org/snomedct/725046003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970173
property_value: exactMatch Orphanet:99901

[Term]
id: MONDO:0012625
name: retinitis pigmentosa 37
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NR2E3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 37" EXACT [MONDO:Lexical, OMIM:611131]
synonym: "retinitis pigmentosa 37; RP37" RELATED [OMIM:611131]
synonym: "retinitis pigmentosa caused by mutation in NR2E3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 37" EXACT [DOID:0110399, MONDORULE:2, OMIM:611131]
synonym: "RP37" EXACT [DOID:0110399, MONDO:Lexical, OMIM:611131]
xref: DOID:0110399 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110399"}
xref: MESH:C567005 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611131 {source="MONDO:equivalentTo", source="DOID:0110399"}
xref: UMLS:C1970163 {source="OMIM:611131", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:611131", source="DOID:0110399", source="MESH:C567005", source="MONDO:Redundant", source="OMIM:611131"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110399
property_value: exactMatch http://identifiers.org/mesh/C567005
property_value: exactMatch http://identifiers.org/omim/611131
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970163

[Term]
id: MONDO:0012626
name: Meckel syndrome, type 4
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 4" RELATED [DOID:0070118]
synonym: "Meckel syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 4" EXACT [MONDO:Lexical, OMIM:611134]
synonym: "Meckel syndrome, type 4; MKS4" RELATED [OMIM:611134]
synonym: "Meckel-Gruber syndrome, type 4" EXACT [DOID:0070118, OMIM:611134]
synonym: "Meckel-like Cerebrorenodigital syndrome" RELATED [OMIM:611134]
synonym: "MKS4" EXACT [DOID:0070118, MONDO:Lexical, OMIM:611134]
xref: DOID:0070118 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070118"}
xref: OMIM:611134 {source="MONDO:equivalentTo", source="DOID:0070118"}
xref: UMLS:C1970161 {source="OMIM:611134", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DC-OMIM:611134", source="DOID:0070118", source="MONDO:Redundant", source="OMIM:611134"} ! Meckel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970162
property_value: exactMatch DOID:0070118
property_value: exactMatch http://identifiers.org/omim/611134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970161

[Term]
id: MONDO:0012627
name: epilepsy, idiopathic generalized, susceptibility to, 13
def: "Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: check classification under EIG
subset: predisposition
synonym: "EIG13" RELATED [MONDO:Lexical, OMIM:611136]
synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:611136]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 13; EIG13" RELATED [OMIM:611136]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:611136]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [OMIM:611136]
synonym: "GABRA1 juvenile myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalized epilepsy 13" RELATED [OMIM:611136]
xref: MESH:C567002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611136 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="MONDO:cjm"} ! epilepsy, idiopathic generalized
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970160
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749942
property_value: exactMatch http://identifiers.org/mesh/C567002
property_value: exactMatch http://identifiers.org/omim/611136

[Term]
id: MONDO:0012628
name: CHDS8
subset: predisposition
synonym: "CHDS8" EXACT [MONDO:Lexical, OMIM:611139]
synonym: "coronary heart disease, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:611139]
synonym: "coronary heart disease, susceptibility to, 8; CHDS8" RELATED [OMIM:611139]
xref: OMIM:611139 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDOLEX:0012628"} ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970158
property_value: exactMatch http://identifiers.org/omim/611139

[Term]
id: MONDO:0012629
name: paroxysmal nonkinesigenic dyskinesia 2
def: "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in variation in the chromosome region 2q31." [DOID:0090047]
synonym: "dystonia 20" RELATED [OMIM:611147]
synonym: "paroxysmal nonkinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611147]
synonym: "paroxysmal nonkinesigenic dyskinesia 2; PNKD2" RELATED [OMIM:611147]
synonym: "paroxysmal nonkinesigenic dyskinesia type 2" EXACT [DOID:0090047, MONDORULE:1]
synonym: "PNKD2" RELATED [MONDO:Lexical, OMIM:611147]
xref: DOID:0090047 {source="MONDO:equivalentTo"}
xref: ICD10:G24.8 {source="DOID:0090047"}
xref: MESH:C567001 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611147 {source="DOID:0090047", source="MONDO:equivalentTo"}
xref: UMLS:C1970149 {source="OMIM:611147", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007326 {source="ORDO:98810/btnt"} ! paroxysmal nonkinesigenic dyskinesia 1
property_value: exactMatch DOID:0090047
property_value: exactMatch http://identifiers.org/mesh/C567001
property_value: exactMatch http://identifiers.org/omim/611147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970149

[Term]
id: MONDO:0012630
name: Alzheimer disease 13
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." [DOID:0110046, PMID:17564960]
synonym: "AD13" EXACT [DOID:0110046, MONDO:Lexical, OMIM:611152]
synonym: "Alzheimer disease 13" EXACT [DOID:0110046, MONDO:Lexical, OMIM:611152]
synonym: "Alzheimer disease 13; AD13" RELATED [OMIM:611152]
synonym: "Alzheimer's disease 13" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 13" EXACT [DOID:0110046, MONDORULE:2]
xref: DOID:0110046 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110046"}
xref: MESH:C567000 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611152 {source="MONDO:equivalentTo", source="DOID:0110046"}
xref: UMLS:C1970147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611152"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110046
property_value: exactMatch http://identifiers.org/mesh/C567000
property_value: exactMatch http://identifiers.org/omim/611152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970147

[Term]
id: MONDO:0012631
name: Alzheimer disease 14
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." [DOID:0110047, PMID:17564960]
synonym: "AD14" EXACT [DOID:0110047, MONDO:Lexical, OMIM:611154]
synonym: "Alzheimer disease 14" EXACT [DOID:0110047, MONDO:Lexical, OMIM:611154]
synonym: "Alzheimer disease 14; AD14" RELATED [OMIM:611154]
synonym: "Alzheimer's disease 14" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 14" EXACT [DOID:0110047, MONDORULE:2]
xref: DOID:0110047 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110047"}
xref: MESH:C566999 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611154 {source="MONDO:equivalentTo", source="DOID:0110047"}
xref: UMLS:C1970144 {source="OMIM:611154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110047
property_value: exactMatch http://identifiers.org/mesh/C566999
property_value: exactMatch http://identifiers.org/omim/611154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970144

[Term]
id: MONDO:0012632
name: Alzheimer disease 15
def: "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24." [DOID:0110048, PMID:17564960]
synonym: "AD15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:611155]
synonym: "Alzheimer disease 15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:611155]
synonym: "Alzheimer disease 15; AD15" RELATED [OMIM:611155]
synonym: "Alzheimer's disease 15" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 15" EXACT [DOID:0110048, MONDORULE:2]
xref: DOID:0110048 {source="MONDO:equivalentTo"}
xref: ICD10:G30 {source="MONDO:subClassOf", source="DOID:0110048"}
xref: MESH:C566998 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611155 {source="MONDO:equivalentTo", source="DOID:0110048"}
xref: UMLS:C1970143 {source="OMIM:611155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
property_value: exactMatch DOID:0110048
property_value: exactMatch http://identifiers.org/mesh/C566998
property_value: exactMatch http://identifiers.org/omim/611155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970143

[Term]
id: MONDO:0012633
name: obsolete malaria
is_obsolete: true
replaced_by: MONDO:0005136

[Term]
id: MONDO:0012634
name: craniofacial dysplasia - osteopenia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:314555"}
synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical, OMIM:611174]
synonym: "Hamamy syndrome" EXACT [Orphanet:314555]
synonym: "HAMAMY syndrome; HMMS" RELATED [OMIM:611174]
synonym: "HMMS" RELATED [MONDO:Lexical, OMIM:611174]
synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED [OMIM:611174]
xref: MESH:C566988 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611174 {source="Orphanet:314555", source="ORDO:314555/e", source="MONDO:equivalentTo"}
xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"}
xref: UMLS:C1970027 {source="Orphanet:314555", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:611174"}
is_a: MONDO:0020018 {source="Orphanet:314555"} ! cranial malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C566988
property_value: exactMatch http://identifiers.org/omim/611174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970027
property_value: exactMatch Orphanet:314555

[Term]
id: MONDO:0012635
name: COG8-CDG
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." [Orphanet:95428]
subset: ordo_disease {source="Orphanet:95428"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428]
synonym: "CDG IIh" RELATED [OMIM:611182]
synonym: "CDG syndrome type IIh" EXACT [Orphanet:95428]
synonym: "CDG-IIh" EXACT [Orphanet:95428]
synonym: "CDG2H" EXACT [MONDO:Lexical, OMIM:611182, Orphanet:95428]
synonym: "COG8-CDG (CDG-IIh)" RELATED [GARD:0012411]
synonym: "congenital disorder of glycosylation type 2h" EXACT [Orphanet:95428]
synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428]
synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182]
synonym: "congenital disorder of glycosylation, type IIh; CDG2H" RELATED [OMIM:611182]
xref: DOID:0070260 {source="MONDO:equivalentTo"}
xref: GARD:0012411 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:95428/attributed", source="ORDO:95428/ntbt", source="Orphanet:95428"}
xref: MESH:C566987 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611182 {source="MONDO:equivalentTo", source="ORDO:95428/e", source="Orphanet:95428"}
xref: Orphanet:95428 {source="MONDO:equivalentTo", source="OMIM:611182"}
xref: SCTID:717774004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C1970021 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95428", source="OMIM:611182"}
is_a: MONDO:0005501 {source="DC-OMIM:611182", source="MONDOLEX:0012635", source="OMIM:611182"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:95428"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018286 {source="Orphanet:95428"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:95428"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: exactMatch DOID:0070260
property_value: exactMatch http://identifiers.org/mesh/C566987
property_value: exactMatch http://identifiers.org/omim/611182
property_value: exactMatch http://identifiers.org/snomedct/717774004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970021
property_value: exactMatch Orphanet:95428

[Term]
id: MONDO:0012636
name: restless legs syndrome, susceptibility to, 6
subset: predisposition
synonym: "periodic limb movements in sleep" RELATED [GARD:0010273, OMIM:611185]
synonym: "restless legs syndrome, susceptibility to, 6" RELATED [OMIM:611185]
synonym: "restless legs syndrome, susceptibility to, 6; RLS6" RELATED [OMIM:611185]
synonym: "RLS6" EXACT [MONDO:Lexical, OMIM:611185]
xref: GARD:0010273 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:611185 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:611185", source="MONDOLEX:0012636", source="OMIM:611185"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970020
property_value: exactMatch http://identifiers.org/omim/611185

[Term]
id: MONDO:0012637
name: COG1-CDG
def: "COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." [Orphanet:263508]
subset: ordo_disease {source="Orphanet:263508"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [Orphanet:263508]
synonym: "CDG 2G" RELATED [GARD:0010226]
synonym: "CDG IIg" RELATED [OMIM:611209]
synonym: "CDG syndrome type IIg" EXACT [Orphanet:263508]
synonym: "CDG-IIg" EXACT [Orphanet:263508]
synonym: "CDG2G" EXACT [MONDO:Lexical, OMIM:611209, Orphanet:263508]
synonym: "Cdgii/Cog1 Cerebrocostomandibular-like syndrome" RELATED [OMIM:611209]
synonym: "COG1-CDG (CDG-IIg)" RELATED [GARD:0010226]
synonym: "congenital disorder of glycosylation type 2g" EXACT [Orphanet:263508]
synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508]
synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209]
synonym: "congenital disorder of glycosylation, type IIg; CDG2G" RELATED [OMIM:611209]
xref: DOID:0070259 {source="MONDO:equivalentTo"}
xref: GARD:0010226 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:263508", source="ORDO:263508/attributed", source="ORDO:263508/ntbt"}
xref: MESH:C535756 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="ORDO:263508/e"}
xref: Orphanet:263508 {source="MONDO:equivalentTo", source="OMIM:611209"}
xref: SCTID:718750004 {source="MONDO:kboom-pr-1.00/0.79/8.21", source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:611209", source="MONDOLEX:0012637", source="OMIM:611209"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:263508"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018286 {source="Orphanet:263508"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018290 {source="Orphanet:263508"} ! congenital disorder of glycosylation with cardiac malformation as a major feature
is_a: MONDO:0018292 {source="Orphanet:263508"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0018295 {source="Orphanet:263508"} ! congenital disorder of glycosylation with deafness as a major feature
is_a: MONDO:0019711 {source="Orphanet:263508"} ! dysostosis with predominant vertebral and costal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970016
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931011
property_value: exactMatch DOID:0070259
property_value: exactMatch http://identifiers.org/mesh/C535756
property_value: exactMatch http://identifiers.org/omim/611209
property_value: exactMatch http://identifiers.org/snomedct/718750004
property_value: exactMatch Orphanet:263508

[Term]
id: MONDO:0012638
name: microphthalmia-brain atrophy syndrome
def: "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." [Orphanet:77299]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:77299"}
synonym: "MCOPS10" EXACT [GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299]
synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292, OMIM:611222]
synonym: "microphthalmia syndromic 10" RELATED [GARD:0009292]
synonym: "microphthalmia, syndromic 10" RELATED [MONDO:Lexical, OMIM:611222]
synonym: "microphthalmia, syndromic 10; MCOPS10" RELATED [OMIM:611222]
synonym: "MOBA" RELATED [GARD:0009292]
synonym: "MOBA syndrome" EXACT [Orphanet:77299]
synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299]
xref: GARD:0009292 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.2 {source="ORDO:77299/attributed", source="ORDO:77299/ntbt", source="Orphanet:77299"}
xref: MESH:C566985 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611222 {source="GARD:0009292", source="MONDO:equivalentTo", source="ORDO:77299/e", source="Orphanet:77299"}
xref: Orphanet:77299 {source="GARD:0009292", source="OMIM:611222", source="MONDO:equivalentTo"}
xref: SCTID:720010009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.03"}
is_a: MONDO:0000508 {source="Orphanet:77299"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016073 {source="DC-OMIM:611222", source="MONDOLEX:0012638", source="OMIM:611222", source="Orphanet:77299"} ! syndromic microphthalmia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:77299"} ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970013
property_value: exactMatch http://identifiers.org/mesh/C566985
property_value: exactMatch http://identifiers.org/omim/611222
property_value: exactMatch http://identifiers.org/snomedct/720010009
property_value: exactMatch Orphanet:77299
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 xsd:anyURI {source="GARD:0009292"}

[Term]
id: MONDO:0012639
name: hereditary spastic paraplegia 18
def: "gene (8p11.2) encoding the protein, Erlin-2." [Orphanet:209951]
subset: ordo_disease {source="Orphanet:209951"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771]
synonym: "autosomal recessive spastic paraplegia type 18" EXACT [DOID:0110771]
synonym: "ERLIN2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 18" EXACT [DOID:0110771, MONDORULE:2]
synonym: "IDMDC" EXACT EXCLUDE [DOID:0110771]
synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [DOID:0110771]
synonym: "intellectual disability, motor dysfunction, and Joint contractures" RELATED [OMIM:611225]
synonym: "spastic paraplegia 18" RELATED [GARD:0004922]
synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611225]
synonym: "spastic paraplegia 18, autosomal recessive; SPG18" RELATED [OMIM:611225]
synonym: "SPG18" EXACT [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951]
xref: DOID:0110771 {source="MONDO:equivalentTo"}
xref: GARD:0004922 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:209951/attributed", source="ORDO:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"}
xref: MESH:C567628 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611225 {source="MONDO:equivalentTo", source="ORDO:209951/e", source="DOID:0110771", source="Orphanet:209951"}
xref: Orphanet:209951 {source="MONDO:equivalentTo", source="OMIM:611225", source="DOID:0110771"}
xref: SCTID:732932004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:209951"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110771
property_value: exactMatch http://identifiers.org/mesh/C567628
property_value: exactMatch http://identifiers.org/omim/611225
property_value: exactMatch http://identifiers.org/snomedct/732932004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749936
property_value: exactMatch Orphanet:209951

[Term]
id: MONDO:0012640
name: Charcot-Marie-Tooth disease type 4J
def: "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:139515]
subset: gard_rare {source="GARD:0012443"}
subset: ordo_disease {source="Orphanet:139515"}
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [OMIM:611228]
synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical, OMIM:611228]
synonym: "Charcot-Marie-Tooth disease, type 4J; CMT4J" RELATED [OMIM:611228]
synonym: "CMT4J" EXACT [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515]
synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110184 {source="MONDO:equivalentTo"}
xref: GARD:0012443 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:139515", source="DOID:0110184", source="ORDO:139515/attributed", source="ORDO:139515/ntbt"}
xref: MESH:C566984 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C134954 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:611228 {source="ORDO:139515/e", source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184"}
xref: Orphanet:139515 {source="MONDO:equivalentTo", source="OMIM:611228", source="DOID:0110184"}
xref: SCTID:720638000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1970011 {source="NCBI:mim2gene_medline", source="Orphanet:139515", source="MONDO:equivalentTo", source="OMIM:611228", source="NCIT:C134954"}
is_a: MONDO:0018995 {source="DOID:0110184", source="MONDO:Redundant", source="Orphanet:139515", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110184
property_value: exactMatch http://identifiers.org/mesh/C566984
property_value: exactMatch http://identifiers.org/omim/611228
property_value: exactMatch http://identifiers.org/snomedct/720638000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970011
property_value: exactMatch NCIT:C134954
property_value: exactMatch Orphanet:139515
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j xsd:anyURI {source="GARD:0012443"}

[Term]
id: MONDO:0012641
name: restless legs syndrome, susceptibility to, 5
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 5" RELATED [OMIM:611242]
synonym: "restless legs syndrome, susceptibility to, 5; RLS5" RELATED [OMIM:611242]
synonym: "RLS 5" RELATED [GARD:0010272]
synonym: "RLS5" EXACT [MONDO:Lexical, OMIM:611242]
xref: GARD:0010272 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:611242 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:611242", source="MONDOLEX:0012641", source="OMIM:611242"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970010
property_value: exactMatch http://identifiers.org/omim/611242

[Term]
id: MONDO:0012642
name: major affective disorder 4
synonym: "bipolar affective disorder" RELATED [OMIM:611247]
synonym: "MAFD4" EXACT [MONDO:Lexical, OMIM:611247]
synonym: "major affective disorder 4" RELATED [OMIM:611247]
synonym: "MAJOR affective disorder 4; MAFD4" RELATED [OMIM:611247]
xref: MESH:C567073 {source="MONDO:equivalentTo"}
xref: OMIM:611247 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MESH:C567073", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970943
property_value: exactMatch http://identifiers.org/mesh/C567073
property_value: exactMatch http://identifiers.org/omim/611247

[Term]
id: MONDO:0012643
name: hereditary spastic paraplegia 32
def: "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." [Orphanet:171622]
subset: ordo_disease {source="Orphanet:171622"}
synonym: "autosomal recessive spastic paraplegia 32" EXACT [DOID:0110783]
synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783]
synonym: "hereditary spastic paraplegia type 32" EXACT [DOID:0110783, MONDORULE:2]
synonym: "spastic paraplegia 32" RELATED [GARD:0012749]
synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611252]
synonym: "spastic paraplegia 32, autosomal recessive; SPG32" RELATED [OMIM:611252]
synonym: "SPG32" EXACT [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622]
xref: DOID:0110783 {source="MONDO:equivalentTo"}
xref: GARD:0012749 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110783", source="Orphanet:171622", source="ORDO:171622/attributed", source="ORDO:171622/ntbt"}
xref: MESH:C566983 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611252 {source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622", source="ORDO:171622/e"}
xref: Orphanet:171622 {source="OMIM:611252", source="MONDO:equivalentTo", source="DOID:0110783"}
xref: SCTID:726606003 {source="MONDO:equivalentTo"}
xref: UMLS:C1970009 {source="OMIM:611252", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171622", source="ORDO:171622/e"}
xref: UMLS:C4511958 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:171622"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110783
property_value: exactMatch http://identifiers.org/mesh/C566983
property_value: exactMatch http://identifiers.org/omim/611252
property_value: exactMatch http://identifiers.org/snomedct/726606003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511958
property_value: exactMatch Orphanet:171622

[Term]
id: MONDO:0012644
name: asphyxiating thoracic dystrophy 2
def: "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "asphyxiating thoracic dystrophy 2" EXACT [OMIM:611263]
synonym: "asphyxiating thoracic dystrophy type 2" EXACT [DOID:0110086, MONDORULE:1]
synonym: "ATD2" EXACT [DOID:0110086]
synonym: "IFT80 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Jeune syndrome caused by mutation in IFT80" EXACT [MONDO:design_pattern]
synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [DOID:0110086, MONDO:Lexical, OMIM:611263]
synonym: "short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2" RELATED [OMIM:611263]
synonym: "SRTD2" EXACT [DOID:0110086, MONDO:Lexical, OMIM:611263]
xref: DOID:0110086 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110086"}
xref: MESH:C566982 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611263 {source="MONDO:equivalentTo", source="DOID:0110086"}
xref: UMLS:C1970005 {source="OMIM:611263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110086", source="MONDO:Redundant", source="OMIM:611263"} ! Jeune syndrome
property_value: exactMatch DOID:0110086
property_value: exactMatch http://identifiers.org/mesh/C566982
property_value: exactMatch http://identifiers.org/omim/611263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1970005

[Term]
id: MONDO:0012645
name: GLC1N
synonym: "glaucoma 1, open angle, N" RELATED [MONDO:Lexical, OMIM:611274]
synonym: "glaucoma 1, open angle, N; GLC1N" RELATED [OMIM:611274]
synonym: "GLC1N" EXACT [MONDO:Lexical, OMIM:611274]
synonym: "JOAG1N" EXACT []
xref: MESH:C566977 {source="MONDO:equivalentTo"}
xref: OMIM:611274 {source="MONDO:equivalentTo"}
xref: UMLS:C1969812 {source="OMIM:611274", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma
property_value: exactMatch http://identifiers.org/mesh/C566977
property_value: exactMatch http://identifiers.org/omim/611274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969812

[Term]
id: MONDO:0012646
name: GLC1H
synonym: "glaucoma 1, open angle, H" RELATED [MONDO:Lexical, OMIM:611276]
synonym: "glaucoma 1, open angle, H; GLC1H" RELATED [OMIM:611276]
synonym: "GLC1H" EXACT [MONDO:Lexical, OMIM:611276]
xref: MESH:C566976 {source="MONDO:equivalentTo"}
xref: OMIM:611276 {source="MONDO:equivalentTo"}
xref: UMLS:C1969811 {source="OMIM:611276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="MESH:C566976"} ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: exactMatch http://identifiers.org/mesh/C566976
property_value: exactMatch http://identifiers.org/omim/611276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969811

[Term]
id: MONDO:0012647
name: obsolete generalized epilepsy with febrile seizures plus, type 3
is_obsolete: true
replaced_by: MONDO:0011891

[Term]
id: MONDO:0012648
name: isobutyryl-CoA dehydrogenase deficiency
def: "gene (11q25)." [Orphanet:79159]
subset: gard_rare {source="GARD:0010223"}
subset: ordo_disease {source="Orphanet:79159"}
synonym: "Acad8 deficiency" RELATED [OMIM:611283]
synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [OMIM:611283]
synonym: "acyl-CoaA dehydrogenase family, member 8, deficiency of" RELATED [GARD:0010223]
synonym: "IBD deficiency" RELATED [OMIM:611283]
synonym: "isobutyric aciduria" EXACT [Orphanet:79159]
synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:611283]
xref: GARD:0010223 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:79159/attributed", source="ORDO:79159/ntbt", source="Orphanet:79159"}
xref: MESH:C535541 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79159/e", source="Orphanet:79159"}
xref: NCIT:C129975 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:611283 {source="MONDO:equivalentTo", source="ORDO:79159/e", source="Orphanet:79159"}
xref: Orphanet:79159 {source="MONDO:equivalentTo", source="OMIM:611283"}
xref: UMLS:C1969809 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129975", source="ORDO:79159/e", source="Orphanet:79159", source="OMIM:611283"}
is_a: MONDO:0016337 {source="Orphanet:79159"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0019215 {source="Orphanet:79159"} ! classic organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C535541
property_value: exactMatch http://identifiers.org/omim/611283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969809
property_value: exactMatch NCIT:C129975
property_value: exactMatch Orphanet:79159
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency xsd:anyURI {source="GARD:0010223"}

[Term]
id: MONDO:0012649
name: obsolete FTSD
is_obsolete: true
replaced_by: MONDO:0044871

[Term]
id: MONDO:0012650
name: Cernunnos-XLF deficiency
def: "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." [Orphanet:169079]
subset: ordo_disease {source="Orphanet:169079"}
synonym: "Cernunnos deficiency" EXACT [Orphanet:169079]
synonym: "Cernunnos XLFD" EXACT [Orphanet:169079]
synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" EXACT [Orphanet:169079]
synonym: "NHEJ1 deficiency" EXACT [Orphanet:169079]
synonym: "Nhej1 syndrome" RELATED [OMIM:611291]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291]
synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291]
synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291]
xref: ICD10:D81.1 {source="Orphanet:169079", source="ORDO:169079/attributed", source="ORDO:169079/ntbt"}
xref: MESH:C566970 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="ORDO:169079/e"}
xref: Orphanet:169079 {source="MONDO:equivalentTo", source="OMIM:611291"}
xref: SCTID:720853005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.79"}
xref: UMLS:C1969799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611291"}
is_a: MONDO:0015945 {source="Orphanet:169079"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018814 {source="Orphanet:169079"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C566970
property_value: exactMatch http://identifiers.org/omim/611291
property_value: exactMatch http://identifiers.org/snomedct/720853005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969799
property_value: exactMatch Orphanet:169079

[Term]
id: MONDO:0012651
name: spastic ataxia 2
def: "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." [Orphanet:397946]
subset: ordo_disease {source="Orphanet:397946"}
synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946]
synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946]
synonym: "KIF1C spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611302]
synonym: "spastic ataxia 2, autosomal recessive; SPAX2" RELATED [OMIM:611302]
synonym: "spastic ataxia caused by mutation in KIF1C" EXACT [MONDO:design_pattern]
synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1]
synonym: "SPAX2" EXACT [MONDO:Lexical, OMIM:611302, Orphanet:397946]
synonym: "SPG58" EXACT [Orphanet:397946]
xref: DOID:0050941 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:397946/attributed", source="ORDO:397946/ntbt", source="Orphanet:397946"}
xref: MESH:C566969 {source="MONDO:equivalentTo"}
xref: OMIM:611302 {source="MONDO:equivalentTo", source="DOID:0050941", source="ORDO:397946/e", source="Orphanet:397946"}
xref: Orphanet:397946 {source="MONDO:equivalentTo", source="OMIM:611302"}
xref: UMLS:C1969796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611302"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0015089 {source="Orphanet:397946"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0017847 ! autosomal recessive spastic ataxia
property_value: exactMatch DOID:0050941
property_value: exactMatch http://identifiers.org/mesh/C566969
property_value: exactMatch http://identifiers.org/omim/611302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969796
property_value: exactMatch Orphanet:397946

[Term]
id: MONDO:0012652
name: autosomal recessive limb-girdle muscular dystrophy type 2L
def: "Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." [Orphanet:206549]
subset: ordo_disease {source="Orphanet:206549"}
synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern]
synonym: "LGMD2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307, Orphanet:206549]
synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536]
synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307]
synonym: "muscular dystrophy, limb-girdle, type 2L; LGMD2L" RELATED [OMIM:611307]
xref: DOID:0110284 {source="MONDO:equivalentTo"}
xref: GARD:0012536 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:206549", source="DOID:0110284", source="ORDO:206549/attributed", source="ORDO:206549/ntbt"}
xref: MESH:C566968 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611307 {source="ORDO:206549/e", source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284"}
xref: Orphanet:206549 {source="MONDO:equivalentTo", source="DOID:0110284", source="OMIM:611307"}
xref: UMLS:C1969785 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="Orphanet:206549", source="MONDO:equivalentTo", source="OMIM:611307"}
is_a: MONDO:0015152 {source="DOID:0110284", source="MONDO:Redundant", source="MONDOLEX:0012652", source="OMIM:611307", source="Orphanet:206549"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016157 {source="Orphanet:206549"} ! qualitative or quantitative defects of fukutin
property_value: exactMatch DOID:0110284
property_value: exactMatch http://identifiers.org/mesh/C566968
property_value: exactMatch http://identifiers.org/omim/611307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969785
property_value: exactMatch Orphanet:206549

[Term]
id: MONDO:0012653
name: PHPVAD
synonym: "persistent hyperplastic primary vitreous, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611308]
synonym: "persistent hyperplastic primary vitreous, autosomal dominant; PHPVAD" RELATED [OMIM:611308]
synonym: "PHPVAD" EXACT [MONDO:Lexical, OMIM:611308]
xref: OMIM:611308 {source="MONDO:equivalentTo"}
xref: UMLS:C1969784 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611308"}
is_a: MONDO:0019631 {source="DC-OMIM:611308", source="OMIM:611308"} ! persistent hyperplastic primary vitreous
property_value: exactMatch http://identifiers.org/omim/611308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969784

[Term]
id: MONDO:0012654
name: atrial heart septal defect 4
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:611363]
synonym: "atrial heart septal defect caused by mutation in TBX20" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 4" EXACT [DOID:0110109, MONDORULE:1]
synonym: "atrial septal defect 4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:611363]
synonym: "atrial septal defect 4; ASD4" RELATED [OMIM:611363]
synonym: "atrial septal defect type 4" EXACT [MONDORULE:1, OMIM:611363]
synonym: "TBX20 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110109 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110109"}
xref: MESH:C566963 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611363 {source="DOID:0110109", source="MONDO:equivalentTo"}
xref: UMLS:C1969657 {source="OMIM:611363", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="DC-OMIM:611363", source="DOID:0110109", source="MESH:C566963", source="MONDO:Redundant", source="MONDOLEX:0012654", source="OMIM:611363"} ! atrial heart septal defect
property_value: exactMatch DOID:0110109
property_value: exactMatch http://identifiers.org/mesh/C566963
property_value: exactMatch http://identifiers.org/omim/611363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969657

[Term]
id: MONDO:0012655
name: EJM4
subset: predisposition
synonym: "EJM4" EXACT [MONDO:Lexical, OMIM:611364]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:611364]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 4; EJM4" RELATED [OMIM:611364]
xref: OMIM:611364 {source="MONDO:equivalentTo"}
xref: UMLS:C1969656 {source="OMIM:611364", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/611364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969656

[Term]
id: MONDO:0012656
name: lethal congenital contracture syndrome 3
def: "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." [Orphanet:137783]
subset: gard_rare {source="GARD:0012644"}
subset: ordo_malformation_syndrome {source="Orphanet:137783"}
synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060653]
synonym: "LCCS3" EXACT [MONDO:Lexical, OMIM:611369, Orphanet:137783]
synonym: "lethal congenital contracture syndrome 3" EXACT [MONDO:Lexical, OMIM:611369]
synonym: "lethal congenital contracture syndrome 3; LCCS3" RELATED [OMIM:611369]
synonym: "lethal congenital contracture syndrome caused by mutation in PIP5K1C" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MONDORULE:1, OMIM:611369]
synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369]
synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060653 {source="MONDO:equivalentTo"}
xref: GARD:0012644 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="DOID:0060653", source="ORDO:137783/attributed", source="ORDO:137783/ntbt", source="Orphanet:137783"}
xref: MESH:C566961 {source="MONDO:equivalentTo"}
xref: OMIM:611369 {source="MONDO:equivalentTo", source="Orphanet:137783", source="ORDO:137783/e"}
xref: Orphanet:137783 {source="DOID:0060653", source="MONDO:equivalentTo", source="OMIM:611369"}
xref: SCTID:715420005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1969655 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611369", source="Orphanet:137783"}
xref: UMLS:C4275144 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017436 {source="DC-OMIM:611369", source="DOID:0060653", source="MONDO:Redundant", source="OMIM:611369", source="Orphanet:137783"} ! lethal congenital contracture syndrome
is_a: MONDO:0043008 {source="Orphanet:137783"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060653
property_value: exactMatch http://identifiers.org/mesh/C566961
property_value: exactMatch http://identifiers.org/omim/611369
property_value: exactMatch http://identifiers.org/snomedct/715420005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275144
property_value: exactMatch Orphanet:137783
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 xsd:anyURI {source="GARD:0012644"}

[Term]
id: MONDO:0012657
name: Mungan syndrome
synonym: "MGS" RELATED [MONDO:Lexical, OMIM:611376]
synonym: "MUNGAN syndrome" EXACT [MONDO:Lexical, OMIM:611376]
synonym: "MUNGAN syndrome; MGS" EXACT [OMIM:611376]
synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687]
synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [OMIM:611376]
synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687]
synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [OMIM:611376]
xref: GARD:0010687 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C548078 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611376 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969653
property_value: exactMatch http://identifiers.org/mesh/C548078
property_value: exactMatch http://identifiers.org/omim/611376

[Term]
id: MONDO:0012658
name: brachydactyly type B2
def: "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." [Orphanet:140908]
subset: ordo_malformation_syndrome {source="Orphanet:140908"}
synonym: "BDB2" EXACT [DOID:0110975, MONDO:Lexical, OMIM:611377]
synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377]
synonym: "brachydactyly, type B2; BDB2" RELATED [OMIM:611377]
xref: DOID:0110975 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="DOID:0110975", source="ORDO:140908/attributed", source="ORDO:140908/ntbt", source="Orphanet:140908"}
xref: OMIM:611377 {source="DOID:0110975", source="ORDO:140908/e", source="MONDO:equivalentTo", source="Orphanet:140908"}
xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"}
xref: UMLS:C1969652 {source="NCBI:mim2gene_medline", source="OMIM:611377", source="MONDO:equivalentTo", source="Orphanet:140908"}
is_a: MONDO:0019066 {source="Orphanet:140908", source="Orphanet:140908/inferred"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0110975
property_value: exactMatch http://identifiers.org/omim/611377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969652
property_value: exactMatch Orphanet:140908

[Term]
id: MONDO:0012659
name: age related macular degeneration 9
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 9" EXACT [DOID:0110021, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in C3" EXACT [MONDO:design_pattern]
synonym: "ARMD9" EXACT [DOID:0110021, MONDO:Lexical, OMIM:611378]
synonym: "C3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 9" RELATED [MONDO:Lexical, OMIM:611378]
synonym: "macular degeneration, age-related, 9; ARMD9" RELATED [OMIM:611378]
synonym: "macular Degeneration, age-related, type 9" EXACT [MONDORULE:1, OMIM:611378]
xref: DOID:0110021 {source="MONDO:equivalentTo"}
xref: MESH:C566958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611378 {source="MONDO:equivalentTo", source="DOID:0110021"}
xref: UMLS:C1969651 {source="OMIM:611378", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="DC-OMIM:611378", source="DOID:0110021", source="MONDO:Redundant", source="OMIM:611378"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110021
property_value: exactMatch http://identifiers.org/mesh/C566958
property_value: exactMatch http://identifiers.org/omim/611378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969651

[Term]
id: MONDO:0012660
name: susceptibility to visceral leishmaniasis, 2
subset: predisposition
synonym: "kala-AZAR, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:611381]
synonym: "kala-AZAR, susceptibility to, 2; KAZA2" RELATED [OMIM:611381]
synonym: "KAZA2" RELATED [MONDO:Lexical, OMIM:611381]
synonym: "leishmaniasis, visceral, susceptibility to, 2" RELATED [OMIM:611381]
xref: OMIM:611381 {source="MONDO:equivalentTo"}
is_a: MONDO:0005445 {source="DC-OMIM:611381", source="MONDOLEX:0012660", source="OMIM:611381"} ! visceral leishmaniasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969649
property_value: exactMatch http://identifiers.org/omim/611381

[Term]
id: MONDO:0012661
name: susceptibility to visceral leishmaniasis, 3
subset: predisposition
synonym: "kala-AZAR, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:611382]
synonym: "kala-AZAR, susceptibility to, 3; KAZA3" RELATED [OMIM:611382]
synonym: "KAZA3" RELATED [MONDO:Lexical, OMIM:611382]
synonym: "leishmaniasis, visceral, susceptibility to, 3" RELATED [OMIM:611382]
xref: OMIM:611382 {source="MONDO:equivalentTo"}
is_a: MONDO:0005445 {source="DC-OMIM:611382", source="MONDOLEX:0012661", source="OMIM:611382"} ! visceral leishmaniasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969648
property_value: exactMatch http://identifiers.org/omim/611382

[Term]
id: MONDO:0012662
name: Usher syndrome type 2D
def: "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "USH2D" EXACT [DOID:0110840, MONDO:Lexical, OMIM:611383]
synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type IID" EXACT [DOID:0110840]
synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383]
synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383]
synonym: "USHER syndrome, type IID; USH2D" RELATED [OMIM:611383]
synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110840 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110840"}
xref: OMIM:611383 {source="MONDO:equivalentTo", source="DOID:0110840"}
is_a: MONDO:0016484 {source="DOID:0110840", source="MONDOLEX:0012662"} ! Usher syndrome type 2
property_value: exactMatch DOID:0110840
property_value: exactMatch http://identifiers.org/omim/611383

[Term]
id: MONDO:0012663
name: Plasmodium falciparum fever episodes quantitative trait locus 1
comment: Editor note consider obsoleting
synonym: "malaria fever episodes quantitative trait locus 1" RELATED [OMIM:611384]
synonym: "Pffe1" RELATED [OMIM:611384]
synonym: "Plasmodium falciparum fever episodes quantitative trait locus 1" EXACT [OMIM:611384]
synonym: "Plasmodium falciparum fever episodes quantitative trait locus type 1" EXACT [MONDORULE:1, OMIM:611384]
xref: OMIM:611384 {source="MONDO:equivalentTo"}
is_a: MONDO:0005136 {source="DC-OMIM:611384"} ! malaria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969647
property_value: exactMatch http://identifiers.org/omim/611384

[Term]
id: MONDO:0012664
name: spastic ataxia 3
def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:314603"}
synonym: "ARSAL" EXACT [Orphanet:314603]
synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 3" EXACT [Orphanet:314603]
synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [OMIM:611390]
synonym: "MARS2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611390]
synonym: "spastic ataxia 3, autosomal recessive; SPAX3" RELATED [OMIM:611390]
synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1]
synonym: "SPAX3" EXACT [MONDO:Lexical, OMIM:611390, Orphanet:314603]
xref: DOID:0050942 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:relatedTo", source="Orphanet:314603", source="ORDO:314603/attributed", source="ORDO:314603/ntbt"}
xref: MESH:C566956 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611390 {source="Orphanet:314603", source="ORDO:314603/e", source="DOID:0050942", source="MONDO:equivalentTo"}
xref: Orphanet:314603 {source="MONDO:equivalentTo", source="OMIM:611390"}
xref: UMLS:C1969645 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:314603", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611390"}
xref: UMLS:CN230089 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017847 {source="MONDO:Redundant", source="MONDOLEX:0012664", source="Orphanet:314603"} ! autosomal recessive spastic ataxia
is_a: MONDO:0018157 {source="Orphanet:314603"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050942
property_value: exactMatch http://identifiers.org/mesh/C566956
property_value: exactMatch http://identifiers.org/omim/611390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230089
property_value: exactMatch Orphanet:314603

[Term]
id: MONDO:0012665
name: cataract 33
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391]
synonym: "cataract 33, cortical" RELATED [OMIM:611391]
synonym: "cataract 33, multiple types" RELATED [OMIM:611391]
synonym: "cataract 33, multiple types; CTRCT33" RELATED [OMIM:611391]
synonym: "cataract 33; CTRCT33" RELATED [OMIM:611391]
synonym: "cataract type 33" EXACT [DOID:0110264, MONDORULE:2, OMIM:611391]
synonym: "cortical cataract 33" NARROW [DOID:0110264]
synonym: "CTRCT33" EXACT [DOID:0110264, MONDO:Lexical, OMIM:611391]
synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern]
xref: DOID:0110264 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110264"}
xref: MESH:C566955 {source="MONDO:equivalentTo"}
xref: OMIM:611391 {source="MONDO:equivalentTo", source="DOID:0110264"}
xref: Orphanet:217046 {source="MONDO:obsoleteEquivalent", source="OMIM:611391"}
xref: Orphanet:217052 {source="MONDO:obsoleteEquivalent", source="OMIM:611391"}
xref: UMLS:C3808107 {source="MONDO:equivalentTo", source="OMIM:611391"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969644
property_value: exactMatch DOID:0110264
property_value: exactMatch http://identifiers.org/mesh/C566955
property_value: exactMatch http://identifiers.org/omim/611391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808107
property_value: exactMatch Orphanet:217046
property_value: exactMatch Orphanet:217052

[Term]
id: MONDO:0012666
name: asthma-related traits, susceptibility to, 6
subset: predisposition
synonym: "ASRT6" RELATED [OMIM:611403]
synonym: "asthma-related traits, susceptibility to, 6" EXACT [OMIM:611403]
synonym: "asthma-related traits, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611403]
xref: OMIM:611403 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012666"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969640
property_value: exactMatch http://identifiers.org/omim/611403

[Term]
id: MONDO:0012667
name: dilated cardiomyopathy 1W
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1W" RELATED [MONDO:Lexical, OMIM:611407]
synonym: "cardiomyopathy, dilated, 1W; CMD1W" RELATED [OMIM:611407]
synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4, OMIM:611407]
synonym: "CMD1W" EXACT [DOID:0110446, MONDO:Lexical, OMIM:611407]
synonym: "dilated cardiomyopathy type 1W" EXACT [DOID:0110446, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern]
synonym: "VCL familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110446 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="DOID:0110446", source="MONDO:subClassOf"}
xref: MESH:C566954 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611407 {source="DOID:0110446", source="MONDO:equivalentTo"}
xref: UMLS:C1969639 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611407"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110446
property_value: exactMatch http://identifiers.org/mesh/C566954
property_value: exactMatch http://identifiers.org/omim/611407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969639

[Term]
id: MONDO:0012668
name: Tented eyebrows
synonym: "Tented eyebrows" EXACT [OMIM:611426]
xref: OMIM:611426 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969624
property_value: exactMatch http://identifiers.org/omim/611426

[Term]
id: MONDO:0012669
name: Legius syndrome
def: "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." [Orphanet:137605]
subset: gard_rare {source="GARD:0010714"}
subset: ordo_malformation_syndrome {source="Orphanet:137605"}
synonym: "Legius syndrome" EXACT [OMIM:611431]
synonym: "neurofibromatosis 1-like syndrome" EXACT [Orphanet:137605]
synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714]
synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431]
synonym: "NF1-like syndrome" EXACT [Orphanet:137605]
xref: GARD:0010714 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.0 {source="ORDO:137605/attributed", source="ORDO:137605/ntbt", source="Orphanet:137605"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C548032 {source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605", source="MONDO:ontobio"}
xref: OMIM:611431 {source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605"}
xref: Orphanet:137605 {source="OMIM:611431", source="MONDO:equivalentTo"}
xref: SCTID:703541007 {source="MONDO:kboom-pr-1.00/0.80/9.15", source="MONDO:equivalentTo"}
xref: UMLS:C1969623 {source="OMIM:611431", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605"}
is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin
is_a: MONDO:0020063 {source="Orphanet:137605"} ! malformation syndrome with hamartosis
is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C548032
property_value: exactMatch http://identifiers.org/omim/611431
property_value: exactMatch http://identifiers.org/snomedct/703541007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969623
property_value: exactMatch Orphanet:137605
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome xsd:anyURI {source="GARD:0010714"}

[Term]
id: MONDO:0012670
name: autosomal recessive nonsyndromic deafness 63
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 63" EXACT [DOID:0110515]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 63" EXACT [DOID:0110515, MONDORULE:2]
synonym: "deafness, autosomal recessive 63" RELATED [MONDO:Lexical, OMIM:611451]
synonym: "deafness, autosomal recessive 63; DFNB63" RELATED [OMIM:611451]
synonym: "deafness, autosomal recessive type 63" EXACT [MONDORULE:2, OMIM:611451]
synonym: "DFNB63" EXACT [DOID:0110515, MONDO:Lexical, OMIM:611451]
synonym: "LRTOMT autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110515 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110515"}
xref: MESH:C566951 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611451 {source="DOID:0110515", source="MONDO:equivalentTo"}
xref: UMLS:C1969621 {source="OMIM:611451", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:611451", source="DOID:0110515", source="MONDO:Redundant", source="OMIM:611451"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110515
property_value: exactMatch http://identifiers.org/mesh/C566951
property_value: exactMatch http://identifiers.org/omim/611451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969621

[Term]
id: MONDO:0012671
name: ETM3
synonym: "ETM3" EXACT [MONDO:Lexical, OMIM:611456]
synonym: "tremor, hereditary essential, 3" RELATED [MONDO:Lexical, OMIM:611456]
synonym: "tremor, hereditary essential, 3; ETM3" RELATED [OMIM:611456]
xref: MESH:C566949 {source="MONDO:equivalentTo"}
xref: OMIM:611456 {source="MONDO:equivalentTo"}
xref: UMLS:C1969617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611456"}
is_a: MONDO:0003233 {source="DC-OMIM:611456", source="MESH:C566949", source="OMIM:611456"} ! essential tremor
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch Orphanet:862
property_value: exactMatch http://identifiers.org/mesh/C566949
property_value: exactMatch http://identifiers.org/omim/611456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969617

[Term]
id: MONDO:0012672
name: cholelithiasis
def: "The presence of calculi in the gallbladder." [NCIT:C122822]
synonym: "gallbladder disease 4" RELATED [MONDO:Lexical, OMIM:611465]
synonym: "gallbladder disease 4; GBD4" RELATED [OMIM:611465]
synonym: "gallbladder disease type 4" EXACT [MONDORULE:1, OMIM:611465]
synonym: "gallstones" EXACT [NCIT:C122822]
synonym: "GBD4" RELATED [MONDO:Lexical, OMIM:611465]
xref: DOID:10211 {source="MONDO:equivalentTo", source="EFO:0004799"}
xref: EFO:0004799 {source="MONDO:equivalentTo", source="DOID:10211"}
xref: ICD9:574 {source="EFO:0004799"}
xref: ICD9:574.20 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:574.5 {source="DOID:10211"}
xref: MESH:D002769 {source="MONDO:equivalentTo", source="EFO:0004799", source="MONDO:ontobio"}
xref: NCIT:C122822 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: OMIM:611465 {source="MONDO:equivalentTo", source="EFO:0004799"}
xref: SCTID:266474003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.72/4.81"}
xref: UMLS:C0008350 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005281 {source="DC-OMIM:611465", source="DOID:10211", source="MONDO:Redundant", source="NCIT:C122822/inferred", source="OMIM:611465"} ! gallbladder disease
is_a: MONDO:0006026 {source="EFO:0004799"} ! urinary bladder disease
property_value: closeMatch http://identifiers.org/snomedct/197397004
property_value: closeMatch http://identifiers.org/snomedct/266475002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006739
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969115
property_value: exactMatch DOID:10211
property_value: exactMatch http://identifiers.org/mesh/D002769
property_value: exactMatch http://identifiers.org/omim/611465
property_value: exactMatch http://identifiers.org/snomedct/266474003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008350
property_value: exactMatch NCIT:C122822

[Term]
id: MONDO:0012673
name: CRCS2
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:611469]
synonym: "colorectal cancer, susceptibility to, 2; CRCS2" RELATED [OMIM:611469]
synonym: "colorectal cancer, susceptibility to, on chromosome 8Q24" RELATED [OMIM:611469]
synonym: "CRCS2" EXACT [MONDO:Lexical, OMIM:611469]
xref: OMIM:611469 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:611469", source="MONDOLEX:0012673"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969113
property_value: exactMatch http://identifiers.org/omim/611469

[Term]
id: MONDO:0012674
name: age related macular degeneration 10
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 10" EXACT [DOID:0110022, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in TLR4" EXACT [MONDO:design_pattern]
synonym: "ARMD10" EXACT [DOID:0110022, MONDO:Lexical, OMIM:611488]
synonym: "macular degeneration, age-related, 10" RELATED [MONDO:Lexical, OMIM:611488]
synonym: "macular degeneration, age-related, 10; ARMD10" RELATED [OMIM:611488]
synonym: "macular Degeneration, age-related, type 10" EXACT [MONDORULE:2, OMIM:611488]
synonym: "TLR4 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110022 {source="MONDO:equivalentTo"}
xref: MESH:C566935 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611488 {source="MONDO:equivalentTo", source="DOID:0110022"}
xref: UMLS:C1969108 {source="OMIM:611488", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="DC-OMIM:611488", source="DOID:0110022", source="MONDO:Redundant", source="OMIM:611488"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110022
property_value: exactMatch http://identifiers.org/mesh/C566935
property_value: exactMatch http://identifiers.org/omim/611488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969108

[Term]
id: MONDO:0012675
name: corticosteroid-binding globulin deficiency
def: "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol , a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome . CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." [https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency]
subset: gard_rare {source="GARD:0013101"}
subset: ordo_disease {source="Orphanet:199247"}
synonym: "CBG deficiency" EXACT [DOID:0090030]
synonym: "Cbg deficiency" RELATED [OMIM:611489]
synonym: "corticosteroid-binding globulin deficiency" EXACT [OMIM:611489]
synonym: "corticosteroid-binding globulin, elevated" RELATED [OMIM:611489]
synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247]
synonym: "transcortin deficiency" EXACT [DOID:0090030]
xref: DOID:0090030 {source="MONDO:equivalentTo"}
xref: GARD:0013101 {source="MONDO:equivalentTo"}
xref: ICD10:E27.8 {source="DOID:0090030", source="ORDO:199247/attributed", source="ORDO:199247/ntbt", source="Orphanet:199247"}
xref: OMIM:611489 {source="DOID:0090030", source="ORDO:199247/e", source="MONDO:equivalentTo", source="Orphanet:199247"}
xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"}
xref: UMLS:C1852529 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611489", source="Orphanet:199247"}
is_a: MONDO:0005495 {source="Orphanet:199247"} ! adrenal gland disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969107
property_value: exactMatch DOID:0090030
property_value: exactMatch http://identifiers.org/omim/611489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852529
property_value: exactMatch Orphanet:199247
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency xsd:anyURI {source="GARD:0013101"}

[Term]
id: MONDO:0012676
name: autosomal recessive osteopetrosis 4
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0005993"}
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in CLCN7" EXACT []
synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1]
synonym: "CLCN7 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "CLCN7 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "infantile malignant osteopetrosis 2" EXACT [DOID:0110944]
synonym: "OPTB4" EXACT [DOID:0110944, MONDO:Lexical, OMIM:611490]
synonym: "osteopetrosis autosomal recessive 4" RELATED [GARD:0005993]
synonym: "osteopetrosis infantile malignant 2" RELATED [GARD:0005993]
synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611490]
synonym: "osteopetrosis, autosomal recessive 4; OPTB4" RELATED [OMIM:611490]
synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:611490]
synonym: "osteopetrosis, infantile malignant 2" RELATED [OMIM:611490]
xref: DOID:0110944 {source="MONDO:equivalentTo"}
xref: GARD:0005993 {source="MONDO:equivalentTo"}
xref: MESH:C566933 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"}
is_a: MONDO:0019026 {source="MONDO:Redundant", source="MONDOLEX:0012676", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969106
property_value: exactMatch DOID:0110944
property_value: exactMatch http://identifiers.org/mesh/C566933
property_value: exactMatch http://identifiers.org/omim/611490
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 xsd:anyURI {source="GARD:0005993"}

[Term]
id: MONDO:0012677
name: atrial fibrillation, familial, 4
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB4" RELATED [MONDO:Lexical, OMIM:611493]
synonym: "atrial fibrillation, familial, 4" EXACT [MONDO:Lexical, OMIM:611493]
synonym: "atrial fibrillation, familial, 4; ATFB4" RELATED [OMIM:611493]
synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1, OMIM:611493]
synonym: "familial atrial fibrillation caused by mutation in KCNE2" EXACT [MONDO:design_pattern]
synonym: "KCNE2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566244 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611493 {source="MONDO:equivalentTo"}
xref: UMLS:C1862394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611493"}
is_a: MONDO:0018054 {source="DC-OMIM:611493", source="MONDO:Redundant", source="MONDOLEX:0012677", source="OMIM:611493"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C566244
property_value: exactMatch http://identifiers.org/omim/611493
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862394

[Term]
id: MONDO:0012678
name: ATFB5
synonym: "ATFB5" EXACT [MONDO:Lexical, OMIM:611494]
synonym: "atrial fibrillation, familial, 5" RELATED [MONDO:Lexical, OMIM:611494]
synonym: "atrial fibrillation, familial, 5; ATFB5" RELATED [OMIM:611494]
xref: MESH:C566932 {source="MONDO:equivalentTo"}
xref: OMIM:611494 {source="MONDO:equivalentTo"}
xref: UMLS:C1969099 {source="OMIM:611494", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:611494", source="MONDOLEX:0012678", source="OMIM:611494"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C566932
property_value: exactMatch http://identifiers.org/omim/611494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969099

[Term]
id: MONDO:0012679
name: autosomal recessive osteopetrosis 6
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0004156"}
subset: ordo_malformation_syndrome {source="Orphanet:210110"}
synonym: "autosomal recessive intermediate osteopetrosis" EXACT [Orphanet:210110]
synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [DOID:0110945]
synonym: "autosomal recessive osteopetrosis type 6" EXACT [DOID:0110945, MONDORULE:1]
synonym: "intermediate osteopetrosis" RELATED [Orphanet:210110]
synonym: "OPTB6" EXACT [DOID:0110945, MONDO:Lexical, OMIM:611497]
synonym: "osteopetrosis (disease) caused by mutation in PLEKHM1" EXACT []
synonym: "osteopetrosis autosomal recessive 6" RELATED [GARD:0004156]
synonym: "osteopetrosis autosomal recessive intermediate form" RELATED [GARD:0004156]
synonym: "osteopetrosis, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611497]
synonym: "osteopetrosis, autosomal recessive 6; OPTB6" RELATED [OMIM:611497]
synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611497]
synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:611497]
synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110945 {source="MONDO:equivalentTo"}
xref: GARD:0004156 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.2 {source="Orphanet:210110", source="ORDO:210110/attributed", source="ORDO:210110/ntbt"}
xref: MESH:C566931 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611497 {source="Orphanet:210110", source="ORDO:210110/e", source="DOID:0110945", source="MONDO:equivalentTo"}
xref: Orphanet:210110 {source="OMIM:611497", source="MONDO:equivalentTo"}
xref: UMLS:C1969093 {source="Orphanet:210110", source="OMIM:611497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019026 ! autosomal recessive osteopetrosis
property_value: exactMatch DOID:0110945
property_value: exactMatch http://identifiers.org/mesh/C566931
property_value: exactMatch http://identifiers.org/omim/611497
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969093
property_value: exactMatch Orphanet:210110
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 xsd:anyURI {source="GARD:0004156"}

[Term]
id: MONDO:0012680
name: nephronophthisis 7
def: "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GLIS2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in GLIS2" EXACT []
synonym: "nephronophthisis 7" EXACT [MONDO:Lexical, OMIM:611498]
synonym: "nephronophthisis 7; NPHP7" RELATED [OMIM:611498]
synonym: "nephronophthisis type 7" EXACT [DOID:0111116, MONDORULE:1, OMIM:611498]
synonym: "NPHP7" EXACT [DOID:0111116, MONDO:Lexical, OMIM:611498]
xref: DOID:0111116 {source="MONDO:equivalentTo"}
xref: MESH:C566930 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611498 {source="DOID:0111116", source="MONDO:equivalentTo"}
xref: UMLS:C1969092 {source="NCBI:mim2gene_medline", source="OMIM:611498", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:611498", source="DOID:0111116", source="MONDO:Redundant", source="OMIM:611498"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111116
property_value: exactMatch http://identifiers.org/mesh/C566930
property_value: exactMatch http://identifiers.org/omim/611498
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969092

[Term]
id: MONDO:0012681
name: FEB7
synonym: "FEB7" EXACT [MONDO:Lexical, OMIM:611515]
synonym: "febrile convulsions, familial, 7" RELATED [OMIM:611515]
synonym: "febrile seizures, familial, 7" RELATED [MONDO:Lexical, OMIM:611515]
synonym: "febrile seizures, familial, 7; FEB7" RELATED [OMIM:611515]
xref: MESH:C566929 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611515 {source="MONDO:equivalentTo"}
xref: UMLS:C1969087 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611515"}
is_a: MONDO:0000032 {source="DC-OMIM:611515", source="OMIM:611515"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C566929
property_value: exactMatch http://identifiers.org/omim/611515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969087

[Term]
id: MONDO:0012682
name: susceptibility to infection due to TYK2 deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: check if should be placed under MONDO:0018037
subset: ordo_disease {source="Orphanet:331226"}
subset: predisposition
synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [Orphanet:331226]
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" EXACT []
synonym: "HIES with atypical Mycobacteriosis, autosomal recessive" RELATED [OMIM:611521]
synonym: "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" RELATED [OMIM:611521]
synonym: "IMD35" RELATED [MONDO:Lexical, OMIM:611521]
synonym: "immunodeficiency 35" RELATED [MONDO:Lexical, OMIM:611521]
synonym: "immunodeficiency 35; IMD35" RELATED [OMIM:611521]
synonym: "immunodeficiency type 35" EXACT [MONDORULE:2, OMIM:611521]
synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "TYK2 deficiency" RELATED [OMIM:611521]
synonym: "tyrosine kinase 2 deficiency" RELATED [OMIM:611521]
xref: ICD10:D82.4 {source="ORDO:331226/attributed", source="ORDO:331226/ntbt", source="Orphanet:331226"}
xref: MESH:C566928 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="ORDO:331226/e"}
xref: Orphanet:331226 {source="OMIM:611521", source="MONDO:equivalentTo"}
xref: UMLS:C1969086 {source="OMIM:611521", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:331226", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017898 {source="Orphanet:331226"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: closeMatch Orphanet:169446
property_value: exactMatch http://identifiers.org/mesh/C566928
property_value: exactMatch http://identifiers.org/omim/611521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969086
property_value: exactMatch Orphanet:331226

[Term]
id: MONDO:0012683
name: pontocerebellar hypoplasia type 6
def: "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." [Orphanet:166073]
subset: clingen
subset: gard_rare {source="GARD:0010710"}
subset: ordo_malformation_syndrome {source="Orphanet:166073"}
synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710]
synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523]
synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [Orphanet:166073]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" EXACT [MONDO:design_pattern]
synonym: "PCH6" EXACT [MONDO:Lexical, OMIM:611523, Orphanet:166073]
synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523]
synonym: "pontocerebellar hypoplasia, type 6; PCH6" RELATED [OMIM:611523]
synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060275 {source="MONDO:equivalentTo"}
xref: GARD:0010710 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:166073", source="ORDO:166073/attributed", source="ORDO:166073/ntbt"}
xref: MESH:C548074 {source="DOID:0060275", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:166073", source="ORDO:166073/e"}
xref: OMIM:611523 {source="DOID:0060275", source="MONDO:equivalentTo", source="Orphanet:166073", source="ORDO:166073/e"}
xref: Orphanet:166073 {source="DOID:0060275", source="MONDO:equivalentTo", source="OMIM:611523"}
xref: SCTID:718606005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.83"}
xref: UMLS:C1969084 {source="DOID:0060275", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611523", source="Orphanet:166073", source="ORDO:166073/e"}
is_a: MONDO:0018157 {source="Orphanet:166073"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="MONDO:Redundant", source="OMIM:611523", source="Orphanet:166073", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060275
property_value: exactMatch http://identifiers.org/mesh/C548074
property_value: exactMatch http://identifiers.org/omim/611523
property_value: exactMatch http://identifiers.org/snomedct/718606005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969084
property_value: exactMatch Orphanet:166073
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 xsd:anyURI {source="GARD:0010710"}

[Term]
id: MONDO:0012684
name: arrhythmogenic right ventricular dysplasia 12
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [DOID:0110083, OMIM:611528]
synonym: "arrhythmogenic right ventricular dysplasia type 12" EXACT [DOID:0110083, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 12" RELATED [MONDO:Lexical, OMIM:611528]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 12; ARVD12" RELATED [OMIM:611528]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 12" EXACT [MONDORULE:2, OMIM:611528]
synonym: "ARVC12" EXACT [DOID:0110083]
synonym: "ARVD12" EXACT [DOID:0110083, MONDO:Lexical, OMIM:611528]
synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [DOID:0110083]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP" EXACT [MONDO:design_pattern]
synonym: "JUP familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110083 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="DOID:0110083"}
xref: MESH:C566925 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611528 {source="MONDO:equivalentTo", source="DOID:0110083"}
xref: UMLS:C1969081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611528"}
is_a: MONDO:0016342 {source="MONDO:Redundant", source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch DOID:0110083
property_value: exactMatch http://identifiers.org/mesh/C566925
property_value: exactMatch http://identifiers.org/omim/611528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969081

[Term]
id: MONDO:0012685
name: major affective disorder 5
synonym: "bipolar affective disorder" RELATED [OMIM:611535]
synonym: "MAFD5" EXACT [MONDO:Lexical, OMIM:611535]
synonym: "major affective disorder 5" RELATED [OMIM:611535]
synonym: "MAJOR affective disorder 5; MAFD5" RELATED [OMIM:611535]
xref: MESH:C567074 {source="MONDO:equivalentTo"}
xref: OMIM:611535 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MESH:C567074", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970944
property_value: exactMatch http://identifiers.org/mesh/C567074
property_value: exactMatch http://identifiers.org/omim/611535

[Term]
id: MONDO:0012686
name: major affective disorder 6
synonym: "bipolar affective disorder" RELATED [OMIM:611536]
synonym: "MAFD6" EXACT [MONDO:Lexical, OMIM:611536]
synonym: "major affective disorder 6" RELATED [OMIM:611536]
synonym: "MAJOR affective disorder 6; MAFD6" RELATED [OMIM:611536]
xref: MESH:C567075 {source="MONDO:equivalentTo"}
xref: OMIM:611536 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MESH:C567075", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970945
property_value: exactMatch http://identifiers.org/mesh/C567075
property_value: exactMatch http://identifiers.org/omim/611536

[Term]
id: MONDO:0012687
name: familial cavitary optic disc anomaly
subset: ordo_morphological_anomaly {source="Orphanet:464760"}
synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical, OMIM:611543]
synonym: "cavitary optic DISC anomalies; CODA" RELATED [OMIM:611543]
synonym: "CODA" RELATED [MONDO:Lexical, OMIM:611543]
synonym: "familial CODA" EXACT [Orphanet:464760]
xref: MESH:C566924 {source="MONDO:equivalentTo"}
xref: OMIM:611543 {source="Orphanet:464760", source="ORDO:464760/e", source="MONDO:equivalentTo"}
xref: Orphanet:464760 {source="MONDO:equivalentTo"}
xref: UMLS:C1969063 {source="OMIM:611543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020149 {source="Orphanet:464760"} ! rare eye disease due to a differentiation anomaly
property_value: exactMatch http://identifiers.org/mesh/C566924
property_value: exactMatch http://identifiers.org/omim/611543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969063
property_value: exactMatch Orphanet:464760

[Term]
id: MONDO:0012688
name: cataract 17 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital nuclear cataract 3" NARROW [DOID:0110270]
synonym: "cataract 17, multiple types" RELATED [MONDO:Lexical, OMIM:611544]
synonym: "cataract 17, multiple types, with or without microcornea" RELATED [OMIM:611544]
synonym: "cataract 17, multiple types; CTRCT17" RELATED [OMIM:611544]
synonym: "cataract, congenital nuclear, autosomal recessive 3" RELATED [OMIM:611544]
synonym: "CATCN3" NARROW [DOID:0110270]
synonym: "CRYBB1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT17" EXACT [DOID:0110270, MONDO:Lexical, OMIM:611544]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB1" EXACT [MONDO:design_pattern]
xref: DOID:0110270 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110270"}
xref: MESH:C566923 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611544 {source="MONDO:equivalentTo", source="DOID:0110270"}
xref: UMLS:C1969062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611544"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110270
property_value: exactMatch http://identifiers.org/mesh/C566923
property_value: exactMatch http://identifiers.org/omim/611544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969062

[Term]
id: MONDO:0012689
name: premature ovarian failure 5
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NOBOX primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof5" RELATED [MONDO:Lexical, OMIM:611548]
synonym: "premature ovarian failure 5" EXACT [MONDO:Lexical, OMIM:611548]
synonym: "premature ovarian failure 5; Pof5" RELATED [OMIM:611548]
synonym: "premature ovarian failure type 5" EXACT [MONDORULE:1, OMIM:611548]
synonym: "primary ovarian failure caused by mutation in NOBOX" EXACT [MONDO:design_pattern]
xref: MESH:C566921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611548 {source="MONDO:equivalentTo"}
xref: UMLS:C1969060 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611548"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C566921
property_value: exactMatch http://identifiers.org/omim/611548
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969060

[Term]
id: MONDO:0012690
name: Noonan syndrome 5
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010700"}
synonym: "Noonan syndrome 5" EXACT [MONDO:Lexical, OMIM:611553]
synonym: "Noonan syndrome 5; NS5" RELATED [OMIM:611553]
synonym: "Noonan syndrome caused by mutation in RAF1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 5" EXACT [DOID:0060583, MONDORULE:1, OMIM:611553]
synonym: "NS5" EXACT [DOID:0060583, MONDO:Lexical, OMIM:611553]
synonym: "RAF1 gene related Noonan syndrome" RELATED [GARD:0010700]
synonym: "RAF1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060583 {source="MONDO:equivalentTo"}
xref: GARD:0010700 {source="MONDO:equivalentTo"}
xref: MESH:C548083 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611553 {source="DOID:0060583", source="MONDO:equivalentTo"}
xref: UMLS:C1969057 {source="NCBI:mim2gene_medline", source="OMIM:611553", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:611553", source="DOID:0060583", source="MESH:C548083", source="MONDO:Redundant", source="OMIM:611553"} ! Noonan syndrome
property_value: exactMatch DOID:0060583
property_value: exactMatch http://identifiers.org/mesh/C548083
property_value: exactMatch http://identifiers.org/omim/611553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969057
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 xsd:anyURI {source="GARD:0010700"}

[Term]
id: MONDO:0012691
name: LEOPARD syndrome 2
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "leopard syndrome 2" EXACT [MONDO:Lexical, OMIM:611554]
synonym: "LEOPARD syndrome 2; LPRD2" RELATED [OMIM:611554]
synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1, OMIM:611554]
synonym: "LPRD2" RELATED [MONDO:Lexical, OMIM:611554]
xref: MESH:C537117 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611554 {source="MONDO:equivalentTo"}
xref: UMLS:C1969056 {source="OMIM:611554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007893 {source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="ORDO:500/btnt"} ! Noonan syndrome with multiple lentigines
property_value: exactMatch http://identifiers.org/mesh/C537117
property_value: exactMatch http://identifiers.org/omim/611554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969056

[Term]
id: MONDO:0012692
name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies
synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" EXACT [OMIM:611555]
xref: MESH:C566918 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611555 {source="MONDO:equivalentTo"}
xref: UMLS:C1969055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611555"}
is_a: MONDO:0003847 {source="MESH:C566918/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566918
property_value: exactMatch http://identifiers.org/omim/611555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969055

[Term]
id: MONDO:0012693
name: glycogen storage disease due to muscle and heart glycogen synthase deficiency
def: "Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." [Orphanet:137625]
subset: ordo_disease {source="Orphanet:137625"}
synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556]
synonym: "glycogen storage disease 0, muscle; GSD0B" RELATED [OMIM:611556]
synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 0, muscle" RELATED [GARD:0010760]
synonym: "glycogen storage disease type 0b" EXACT [Orphanet:137625]
synonym: "glycogenosis due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625]
synonym: "glycogenosis type 0b" EXACT [Orphanet:137625]
synonym: "GSD 0B" RELATED [OMIM:611556]
synonym: "GSD due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625]
synonym: "GSD type 0b" EXACT [Orphanet:137625]
synonym: "GSD0B" RELATED [MONDO:Lexical, OMIM:611556]
synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556]
synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556]
xref: GARD:0010760 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:137625/attributed", source="ORDO:137625/ntbt", source="Orphanet:137625"}
xref: MESH:C566917 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611556 {source="ORDO:137625/e", source="MONDO:equivalentTo", source="Orphanet:137625"}
xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"}
xref: SCTID:725027004 {source="MONDO:equivalentTo"}
xref: UMLS:C1969054 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611556"}
is_a: MONDO:0016325 {source="Orphanet:137625"} ! glycogen storage disease with hypertrophic cardiomyopathy
is_a: MONDO:0017693 {source="MONDO:Redundant", source="Orphanet:137625"} ! glycogen storage disease due to glycogen synthase deficiency
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C566917
property_value: exactMatch http://identifiers.org/omim/611556
property_value: exactMatch http://identifiers.org/snomedct/725027004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969054
property_value: exactMatch Orphanet:137625

[Term]
id: MONDO:0012694
name: Joubert syndrome 7
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS7" EXACT [DOID:0111002, MONDO:Lexical, OMIM:611560]
synonym: "Joubert syndrome 7" EXACT [MONDO:Lexical, OMIM:611560]
synonym: "Joubert syndrome 7; JBTS7" RELATED [OMIM:611560]
synonym: "Joubert syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 7" EXACT [DOID:0111002, MONDORULE:1, OMIM:611560]
synonym: "RPGRIP1L Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111002 {source="MONDO:equivalentTo"}
xref: MESH:C566916 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611560 {source="MONDO:equivalentTo", source="DOID:0111002"}
xref: UMLS:C1969053 {source="OMIM:611560", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID", source="DOID:0111002", source="MONDO:Redundant", source="OMIM:611560"} ! Joubert syndrome
property_value: exactMatch DOID:0111002
property_value: exactMatch http://identifiers.org/mesh/C566916
property_value: exactMatch http://identifiers.org/omim/611560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969053

[Term]
id: MONDO:0012695
name: Meckel syndrome, type 5
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 5" RELATED [DOID:0070119]
synonym: "Meckel syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 5" EXACT [MONDO:Lexical, OMIM:611561]
synonym: "Meckel syndrome, type 5; MKS5" RELATED [OMIM:611561]
synonym: "Meckel-Gruber syndrome, type 5" EXACT [DOID:0070119]
synonym: "MKS5" EXACT [DOID:0070119, MONDO:Lexical, OMIM:611561]
synonym: "RPGRIP1L Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070119 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070119"}
xref: MESH:C566915 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611561 {source="MONDO:equivalentTo", source="DOID:0070119"}
xref: UMLS:C1969052 {source="OMIM:611561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DC-OMIM:611561", source="DOID:0070119", source="MONDO:Redundant", source="OMIM:611561"} ! Meckel syndrome
property_value: exactMatch DOID:0070119
property_value: exactMatch http://identifiers.org/mesh/C566915
property_value: exactMatch http://identifiers.org/omim/611561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969052

[Term]
id: MONDO:0012696
name: OTSC4
synonym: "otosclerosis 4" RELATED [MONDO:Lexical, OMIM:611571]
synonym: "otosclerosis 4; OTSC4" RELATED [OMIM:611571]
synonym: "OTSC4" EXACT [MONDO:Lexical, OMIM:611571]
xref: MESH:C566914 {source="MONDO:equivalentTo"}
xref: OMIM:611571 {source="MONDO:equivalentTo"}
xref: UMLS:C1969046 {source="OMIM:611571", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005349 {source="DC-OMIM:611571", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C566914
property_value: exactMatch http://identifiers.org/omim/611571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969046

[Term]
id: MONDO:0012697
name: OTSC7
synonym: "otosclerosis 7" RELATED [MONDO:Lexical, OMIM:611572]
synonym: "otosclerosis 7; OTSC7" RELATED [OMIM:611572]
synonym: "OTSC7" EXACT [MONDO:Lexical, OMIM:611572]
xref: MESH:C566913 {source="MONDO:equivalentTo"}
xref: OMIM:611572 {source="MONDO:equivalentTo"}
xref: UMLS:C1969044 {source="OMIM:611572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C566913
property_value: exactMatch http://identifiers.org/omim/611572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969044

[Term]
id: MONDO:0012698
name: Waardenburg syndrome type 2E
def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [DOID:0110956]
synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [OMIM:611584]
synonym: "SOX10 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in SOX10" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT [DOID:0110956]
synonym: "Waardenburg syndrome type IIE" EXACT [DOID:0110956]
synonym: "Waardenburg syndrome, type 2E" RELATED [MONDO:Lexical, OMIM:611584]
synonym: "Waardenburg syndrome, type 2E, with or without neurologic involvement" RELATED [OMIM:611584]
synonym: "Waardenburg syndrome, type 2E; WS2E" RELATED [OMIM:611584]
synonym: "WS2E" EXACT [DOID:0110956, MONDO:Lexical, OMIM:611584]
synonym: "WS2E with or without neurological involvement" EXACT [DOID:0110956]
synonym: "Ws2E, with or without neurologic involvement" RELATED [OMIM:611584]
xref: DOID:0110956 {source="MONDO:equivalentTo"}
xref: OMIM:611584 {source="DOID:0110956", source="MONDO:equivalentTo"}
xref: UMLS:C2700405 {source="OMIM:611584", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019517 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012698"} ! Waardenburg syndrome type 2
property_value: exactMatch DOID:0110956
property_value: exactMatch http://identifiers.org/omim/611584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700405

[Term]
id: MONDO:0012699
name: autosomal recessive limb-girdle muscular dystrophy type 2M
def: "Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." [Orphanet:206554]
subset: ordo_disease {source="Orphanet:206554"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN" EXACT [MONDO:design_pattern]
synonym: "FKTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2M" EXACT [DOID:0110296, Orphanet:206554]
synonym: "limb-girdle muscular dystrophy type 2M" RELATED [GARD:0012538]
synonym: "MDDGC4" EXACT [DOID:0110296, MONDO:Lexical, OMIM:611588]
synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [OMIM:611588]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [DOID:0110296]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; MDDGC4" RELATED [OMIM:611588]
xref: DOID:0110296 {source="MONDO:equivalentTo"}
xref: GARD:0012538 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110296", source="ORDO:206554/attributed", source="ORDO:206554/ntbt", source="Orphanet:206554"}
xref: MESH:C566912 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611588 {source="MONDO:equivalentTo", source="DOID:0110296", source="ORDO:206554/e", source="Orphanet:206554"}
xref: Orphanet:206554 {source="MONDO:equivalentTo", source="OMIM:611588", source="DOID:0110296"}
xref: UMLS:C1969040 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611588", source="Orphanet:206554"}
is_a: MONDO:0000173 {source="OMIM:611588"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015152 {source="DOID:0110296", source="MONDO:Redundant", source="MONDOLEX:0012699", source="OMIM:611588", source="Orphanet:206554"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016157 {source="Orphanet:206554"} ! qualitative or quantitative defects of fukutin
is_a: MONDO:0016334 {source="Orphanet:206554"} ! neuromuscular disease with dilated cardiomyopathy
is_a: MONDO:0017745 {source="Orphanet:206554"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018284 {source="Orphanet:206554"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018289 {source="Orphanet:206554"} ! congenital disorder of glycosylation with dilated cardiomyopathy
property_value: exactMatch DOID:0110296
property_value: exactMatch http://identifiers.org/mesh/C566912
property_value: exactMatch http://identifiers.org/omim/611588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969040
property_value: exactMatch Orphanet:206554

[Term]
id: MONDO:0012700
name: distal renal tubular acidosis with anemia
def: "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." [Orphanet:93610]
subset: ordo_clinical_subtype {source="Orphanet:93610"}
synonym: "dRTA with anemia" EXACT [Orphanet:93610]
synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590]
synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590]
synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590]
xref: ICD10:N25.8 {source="ORDO:93610/attributed", source="ORDO:93610/ntbt", source="Orphanet:93610"}
xref: OMIM:611590 {source="ORDO:93610/e", source="MONDO:equivalentTo", source="Orphanet:93610"}
xref: Orphanet:93610 {source="MONDO:equivalentTo", source="OMIM:611590"}
xref: UMLS:C1969038 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93610", source="OMIM:611590"}
is_a: MONDO:0015827 {source="Orphanet:93610"} ! distal renal tubular acidosis (disease)
is_a: MONDO:0020101 {source="Orphanet:93610"} ! constitutional hemolytic anemia due to membrane defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969039
property_value: exactMatch http://identifiers.org/omim/611590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969038
property_value: exactMatch Orphanet:93610

[Term]
id: MONDO:0012701
name: cataract 12 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." [DOID:0110239, PMID:10729115]
synonym: "cataract 12, multiple types" RELATED [MONDO:Lexical, OMIM:611597]
synonym: "cataract 12, multiple types; CTRCT12" RELATED [OMIM:611597]
synonym: "CTRCT12" EXACT [DOID:0110239, MONDO:Lexical, OMIM:611597]
xref: DOID:0110239 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110239"}
xref: MESH:C566909 {source="MONDO:equivalentTo"}
xref: OMIM:611597 {source="DOID:0110239", source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110239", source="MESH:C566909", source="OMIM:611597"} ! cataract (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969032
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808115
property_value: exactMatch DOID:0110239
property_value: exactMatch http://identifiers.org/mesh/C566909
property_value: exactMatch http://identifiers.org/omim/611597

[Term]
id: MONDO:0012702
name: CELIAC6
subset: predisposition
synonym: "autoimmune disease, susceptibility to, 5" RELATED [OMIM:611598]
synonym: "celiac disease, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:611598]
synonym: "celiac disease, susceptibility to, 6; CELIAC6" RELATED [OMIM:611598]
synonym: "CELIAC6" EXACT [MONDO:Lexical, OMIM:611598]
synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [OMIM:611598]
xref: OMIM:611598 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:611598", source="OMIM:611598"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969030
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969031
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/611598

[Term]
id: MONDO:0012703
name: lissencephaly due to TUBA1A mutation
def: "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." [Orphanet:171680]
subset: ordo_malformation_syndrome {source="Orphanet:171680"}
synonym: "LIS3" RELATED [MONDO:Lexical, OMIM:611603]
synonym: "lissencephaly 3" RELATED [MONDO:Lexical, OMIM:611603]
synonym: "lissencephaly 3; LIS3" RELATED [OMIM:611603]
synonym: "lissencephaly type 3" EXACT [MONDORULE:1, OMIM:611603]
xref: ICD10:Q04.3 {source="Orphanet:171680", source="ORDO:171680/attributed", source="ORDO:171680/ntbt"}
xref: MESH:C566908 {source="MONDO:equivalentTo"}
xref: NCIT:C148461 {source="MONDO:equivalentTo"}
xref: OMIM:611603 {source="Orphanet:171680", source="ORDO:171680/e", source="MONDO:equivalentTo"}
xref: Orphanet:171680 {source="MONDO:equivalentTo", source="OMIM:611603"}
xref: UMLS:CN200289 {source="MONDO:equivalentTo"}
is_a: MONDO:0015148 {source="MONDOLEX:0012703"} ! lissencephaly type 3
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969029
property_value: exactMatch http://identifiers.org/mesh/C566908
property_value: exactMatch http://identifiers.org/omim/611603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200289
property_value: exactMatch NCIT:C148461
property_value: exactMatch Orphanet:171680

[Term]
id: MONDO:0012704
name: dilated cardiomyopathy 1X
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1X" RELATED [MONDO:Lexical, OMIM:611615]
synonym: "cardiomyopathy, dilated, 1X; CMD1X" RELATED [OMIM:611615]
synonym: "cardiomyopathy, dilated, type 1X" EXACT [MONDORULE:4, OMIM:611615]
synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" RELATED [OMIM:611615]
synonym: "CMD1X" EXACT [DOID:0110444, MONDO:Lexical, OMIM:611615]
synonym: "dilated cardiomyopathy type 1X" EXACT [DOID:0110444, MONDORULE:4]
synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT [DOID:0110444]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in FKTN" EXACT [MONDO:design_pattern]
synonym: "FKTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110444 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110444"}
xref: MESH:C566907 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611615 {source="MONDO:equivalentTo", source="DOID:0110444"}
xref: UMLS:C1969024 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611615"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110444
property_value: exactMatch http://identifiers.org/mesh/C566907
property_value: exactMatch http://identifiers.org/omim/611615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969024

[Term]
id: MONDO:0012705
name: familial temporal lobe epilepsy 3
alt_id: MONDO:0000823
synonym: "epilepsy, familial mesial temporal lobe" RELATED [OMIM:611630]
synonym: "epilepsy, familial temporal lobe, 3" RELATED [MONDO:Lexical, OMIM:611630]
synonym: "epilepsy, familial temporal lobe, 3; ETL3" RELATED [OMIM:611630]
synonym: "ETL3" EXACT [MONDO:Lexical, OMIM:611630]
synonym: "familial mesial temporal lobe epilepsy" EXACT [DOID:0060750]
synonym: "familial temporal lobe epilepsy type 3" EXACT [DOID:0060750, MONDORULE:1]
synonym: "FMTLE" EXACT [DOID:0060750]
xref: DOID:0060750 {source="MONDO:equivalentTo"}
xref: MESH:C566903 {source="MONDO:equivalentTo"}
xref: OMIM:611630 {source="DOID:0060750", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: UMLS:C1968848 {source="NCBI:mim2gene_medline", source="OMIM:611630", source="MONDO:equivalentTo"}
is_a: MONDO:0005115 {source="DOID:0060750", source="OMIM:611630"} ! temporal lobe epilepsy
is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy
property_value: exactMatch DOID:0060750
property_value: exactMatch http://identifiers.org/mesh/C566903
property_value: exactMatch http://identifiers.org/omim/611630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968848

[Term]
id: MONDO:0012706
name: familial temporal lobe epilepsy 4
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22." [DOID:0060753, PMID:17460155, PMID:18332351]
synonym: "epilepsy, familial temporal lobe, 4" RELATED [MONDO:Lexical, OMIM:611631]
synonym: "epilepsy, familial temporal lobe, 4; ETL4" RELATED [OMIM:611631]
synonym: "epilepsy, occipitotemporal lobe, and migraine with aura" RELATED [OMIM:611631]
synonym: "EPOLM" RELATED [DOID:0060753]
synonym: "ETL4" EXACT [DOID:0060753, MONDO:Lexical, OMIM:611631]
synonym: "familial temporal lobe epilepsy type 4" EXACT [DOID:0060753, MONDORULE:1]
synonym: "occipitotemporal lobe epilepsy and migraine with aura" RELATED [DOID:0060753]
xref: DOID:0060753 {source="MONDO:equivalentTo"}
xref: MESH:C566902 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611631 {source="MONDO:equivalentTo", source="DOID:0060753"}
xref: UMLS:C1968847 {source="OMIM:611631", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011965 {source="MONDOLEX:0012706", source="ORDO:98819/btnt"} ! familial temporal lobe epilepsy 2
property_value: exactMatch DOID:0060753
property_value: exactMatch http://identifiers.org/mesh/C566902
property_value: exactMatch http://identifiers.org/omim/611631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968847

[Term]
id: MONDO:0012707
name: FEB9
synonym: "FEB9" EXACT [MONDO:Lexical, OMIM:611634]
synonym: "febrile convulsions, familial, 9" RELATED [OMIM:611634]
synonym: "febrile seizures, familial, 9" RELATED [MONDO:Lexical, OMIM:611634]
synonym: "febrile seizures, familial, 9; FEB9" RELATED [OMIM:611634]
xref: MESH:C566901 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611634 {source="MONDO:equivalentTo"}
xref: UMLS:C1968846 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611634"}
is_a: MONDO:0000032 {source="DC-OMIM:611634", source="OMIM:611634"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C566901
property_value: exactMatch http://identifiers.org/omim/611634
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968846

[Term]
id: MONDO:0012708
name: PLSA1
synonym: "Pls, adult" RELATED [OMIM:611637]
synonym: "PLSA1" EXACT [MONDO:Lexical, OMIM:611637]
synonym: "primary lateral sclerosis, ADULT, 1" RELATED [MONDO:Lexical, OMIM:611637]
synonym: "primary lateral sclerosis, ADULT, 1; PLSA1" RELATED [OMIM:611637]
xref: MESH:C566900 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611637 {source="MONDO:equivalentTo"}
is_a: MONDO:0018155 {source="DC-OMIM:611637"} ! lateral sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968845
property_value: exactMatch http://identifiers.org/mesh/C566900
property_value: exactMatch http://identifiers.org/omim/611637

[Term]
id: MONDO:0012709
name: microphthalmia, isolated, with coloboma 5
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB5" RELATED [MONDO:Lexical, OMIM:611638]
synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical, OMIM:611638]
synonym: "microphthalmia, isolated, with coloboma 5; MCOPCB5" RELATED [OMIM:611638]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in SHH" EXACT []
synonym: "microphthalmia, isolated, with coloboma caused by mutation in Shh" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1, OMIM:611638]
synonym: "SHH microphthalmia, isolated, with coloboma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Shh microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern]
xref: MESH:C566899 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611638 {source="MONDO:equivalentTo"}
xref: UMLS:C1968843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611638"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C566899
property_value: exactMatch http://identifiers.org/omim/611638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968843

[Term]
id: MONDO:0012710
name: HSCR9
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:611644]
synonym: "Hirschsprung disease, susceptibility to, 9; HSCR9" RELATED [OMIM:611644]
synonym: "HSCR9" EXACT [MONDO:Lexical, OMIM:611644]
xref: OMIM:611644 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968840
property_value: exactMatch http://identifiers.org/omim/611644

[Term]
id: MONDO:0012711
name: peripapillary atrophy, beta type
synonym: "Beta-PPA" RELATED [OMIM:611650]
synonym: "peripapillary atrophy, beta type" EXACT [MONDO:Lexical, OMIM:611650]
synonym: "peripapillary atrophy, BETA type; PPAB" RELATED [OMIM:611650]
synonym: "peripapillary chorioretinal atrophy, Beta type" RELATED [OMIM:611650]
synonym: "PPAB" RELATED [MONDO:Lexical, OMIM:611650]
xref: MESH:C566898 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611650 {source="MONDO:equivalentTo"}
xref: UMLS:C1968838 {source="OMIM:611650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C566898/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566898
property_value: exactMatch http://identifiers.org/omim/611650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968838

[Term]
id: MONDO:0012712
name: DYTCA
synonym: "dystonia with cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:611694]
synonym: "dystonia with cerebellar atrophy; DYTCA" RELATED [OMIM:611694]
synonym: "DYTCA" EXACT [MONDO:Lexical, OMIM:611694]
xref: MESH:C567131 {source="MONDO:equivalentTo"}
xref: OMIM:611694 {source="MONDO:equivalentTo"}
xref: UMLS:C2673697 {source="OMIM:611694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567131
property_value: exactMatch http://identifiers.org/omim/611694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673697

[Term]
id: MONDO:0012713
name: spondylometaphyseal dysplasia, East African type
subset: gard_rare {source="GARD:0004992"}
synonym: "spondylometaphyseal dysplasia East-African type" RELATED [GARD:0004992]
synonym: "spondylometaphyseal dysplasia, East African type" EXACT [OMIM:611702]
xref: GARD:0004992 {source="MONDO:equivalentTo"}
xref: MESH:C535796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611702 {source="MONDO:equivalentTo"}
xref: UMLS:C2673686 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611702"}
is_a: MONDO:0016763 {source="DC-OMIM:611702", source="MONDOLEX:0012713"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535796
property_value: exactMatch http://identifiers.org/omim/611702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673686
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type xsd:anyURI {source="GARD:0004992"}

[Term]
id: MONDO:0012714
name: early-onset myopathy with fatal cardiomyopathy
subset: ordo_disease {source="Orphanet:289377"}
synonym: "EOMFC" RELATED [OMIM:611705]
synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705]
synonym: "Salih myopathy" EXACT [Orphanet:289377]
synonym: "Salih myopathy; SALMY" RELATED [OMIM:611705]
synonym: "SALMY" RELATED [OMIM:611705]
xref: ICD10:G71.8 {source="Orphanet:289377", source="ORDO:289377/attributed", source="ORDO:289377/ntbt"}
xref: MESH:C567129 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611705 {source="ORDO:289377/e", source="Orphanet:289377", source="MONDO:equivalentTo"}
xref: Orphanet:289377 {source="MONDO:equivalentTo", source="OMIM:611705"}
xref: SCTID:702343002 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C2673677 {source="Orphanet:289377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611705"}
is_a: MONDO:0016334 {source="Orphanet:289377"} ! neuromuscular disease with dilated cardiomyopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
property_value: exactMatch http://identifiers.org/mesh/C567129
property_value: exactMatch http://identifiers.org/omim/611705
property_value: exactMatch http://identifiers.org/snomedct/702343002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673677
property_value: exactMatch Orphanet:289377

[Term]
id: MONDO:0012715
name: MGR12
subset: predisposition
synonym: "MGR12" EXACT [MONDO:Lexical, OMIM:611706]
synonym: "migraine with or without aura, susceptibility to, 12" RELATED [MONDO:Lexical, OMIM:611706]
synonym: "migraine with or without aura, susceptibility to, 12; MGR12" RELATED [OMIM:611706]
xref: OMIM:611706 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:611706", source="OMIM:611706/inferred"} ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673676
property_value: exactMatch http://identifiers.org/omim/611706

[Term]
id: MONDO:0012716
name: spondyloepiphyseal dysplasia, Cantu type
def: "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." [Orphanet:163654]
subset: ordo_disease {source="Orphanet:163654"}
synonym: "fantasy Island syndrome" RELATED [OMIM:611717]
synonym: "SED-BDS" EXACT [Orphanet:163654]
synonym: "Sed-BDS" RELATED [OMIM:611717]
synonym: "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" RELATED [OMIM:611717]
synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" EXACT [Orphanet:163654]
synonym: "Tatoo dysplasia" RELATED [OMIM:611717]
synonym: "tattoo dysplasia" EXACT [Orphanet:163654]
xref: GARD:0010629 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q77.7 {source="ORDO:163654/attributed", source="ORDO:163654/ntbt", source="Orphanet:163654"}
xref: MESH:C567128 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="ORDO:163654/e"}
xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"}
xref: SCTID:718765003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C2673649 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163654", source="OMIM:611717"}
is_a: MONDO:0016761 {source="Orphanet:163654"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C567128
property_value: exactMatch http://identifiers.org/omim/611717
property_value: exactMatch http://identifiers.org/snomedct/718765003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673649
property_value: exactMatch Orphanet:163654

[Term]
id: MONDO:0012717
name: renal hypomagnesemia 4
def: "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EGF familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EGF primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial primary hypomagnesemia caused by mutation in EGF" EXACT []
synonym: "HOMG4" EXACT [DOID:0060882, MONDO:Lexical, OMIM:611718]
synonym: "hypomagnesemia 4, renal" RELATED [MONDO:Lexical, OMIM:611718]
synonym: "hypomagnesemia 4, renal; HOMG4" RELATED [OMIM:611718]
synonym: "hypomagnesemia, renal, Normocalciuric" RELATED [OMIM:611718]
synonym: "primary hypomagnesemia caused by mutation in EGF" EXACT [MONDO:design_pattern]
synonym: "renal hypomagnesemia type 4" EXACT [DOID:0060882, MONDORULE:1]
xref: DOID:0060882 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="DOID:0060882"}
xref: MESH:C567127 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611718 {source="DOID:0060882", source="MONDO:equivalentTo"}
xref: UMLS:C2673648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611718"}
is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
property_value: exactMatch DOID:0060882
property_value: exactMatch http://identifiers.org/mesh/C567127
property_value: exactMatch http://identifiers.org/omim/611718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673648

[Term]
id: MONDO:0012718
name: hypotonia with lactic acidemia and hyperammonemia
def: "This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia." [Orphanet:137908]
subset: ordo_disease {source="Orphanet:137908"}
synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908]
synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719]
synonym: "combined oxidative phosphorylation deficiency 5; COXPD5" RELATED [OMIM:611719]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1, OMIM:611719]
synonym: "COXPD5" EXACT [MONDO:Lexical, OMIM:611719, Orphanet:137908]
synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="ORDO:137908/attributed", source="ORDO:137908/ntbt", source="Orphanet:137908"}
xref: MESH:C567126 {source="MONDO:equivalentTo"}
xref: OMIM:611719 {source="MONDO:equivalentTo", source="ORDO:137908/e", source="Orphanet:137908"}
xref: Orphanet:137908 {source="OMIM:611719", source="MONDO:equivalentTo"}
xref: SCTID:724279004 {source="MONDO:equivalentTo"}
xref: UMLS:C2673642 {source="OMIM:611719", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137908"}
xref: UMLS:C4510567 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:611719", source="MONDO:Redundant", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:137908"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/mesh/C567126
property_value: exactMatch http://identifiers.org/omim/611719
property_value: exactMatch http://identifiers.org/snomedct/724279004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510567
property_value: exactMatch Orphanet:137908

[Term]
id: MONDO:0012719
name: encephalopathy due to prosaposin deficiency
def: "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." [Orphanet:139406]
subset: gard_rare {source="GARD:0012505"}
subset: ordo_disease {source="Orphanet:139406"}
synonym: "combined prosaposin deficiency" EXACT [Orphanet:139406]
synonym: "combined SAP deficiency" RELATED [GARD:0012505]
synonym: "combined Sap deficiency" RELATED [OMIM:611721]
synonym: "combined saposin deficiency" RELATED [GARD:0012505, OMIM:611721]
synonym: "prosaposin deficiency" RELATED [OMIM:611721]
synonym: "PSAPD" RELATED [GARD:0012505]
xref: GARD:0012505 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:139406", source="ORDO:139406/attributed", source="ORDO:139406/ntbt"}
xref: MESH:C567125 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611721 {source="Orphanet:139406", source="ORDO:139406/e", source="MONDO:equivalentTo"}
xref: Orphanet:139406 {source="MONDO:equivalentTo", source="OMIM:611721"}
xref: SCTID:720864008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2673635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611721"}
xref: UMLS:C4303785 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018299 {source="Orphanet:139406"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019058 {source="Orphanet:139406"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C567125
property_value: exactMatch http://identifiers.org/omim/611721
property_value: exactMatch http://identifiers.org/snomedct/720864008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303785
property_value: exactMatch Orphanet:139406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency xsd:anyURI {source="GARD:0012505"}

[Term]
id: MONDO:0012720
name: Krabbe disease, atypical, due to saposin A deficiency
subset: gard_rare {source="GARD:0010289"}
synonym: "Krabbe disease, atypical due to saposin A deficiency" EXACT [GARD:0010289]
synonym: "Krabbe disease, atypical, due to saposin A deficiency" EXACT [OMIM:611722]
synonym: "saposin A deficiency" RELATED [OMIM:611722]
xref: GARD:0010289 {source="MONDO:equivalentTo"}
xref: MESH:C567097 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611722 {source="MONDO:equivalentTo"}
xref: UMLS:C2673266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611722"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="MONDOLEX:0012720", source="ORDO:487/btnt"} ! Krabbe disease
property_value: exactMatch http://identifiers.org/mesh/C567097
property_value: exactMatch http://identifiers.org/omim/611722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673266
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency xsd:anyURI {source="GARD:0010289"}

[Term]
id: MONDO:0012721
name: progressive myoclonic epilepsy type 3
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0002167"}
subset: ordo_disease {source="Orphanet:263516"}
synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [OMIM:611726]
synonym: "epilepsy progressive myoclonic type 3" RELATED [GARD:0002167]
synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" RELATED [MONDO:Lexical, OMIM:611726]
synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3" RELATED [OMIM:611726]
synonym: "EPM 3" RELATED [GARD:0002167]
synonym: "EPM3" EXACT [MONDO:Lexical, OMIM:611726, Orphanet:263516]
synonym: "KCTD7 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PME type 3" EXACT [Orphanet:263516]
synonym: "progressive myoclonic epilepsy 3" RELATED [GARD:0002167]
synonym: "progressive myoclonic epilepsy caused by mutation in KCTD7" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphanet:263516]
synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516]
xref: GARD:0002167 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="Orphanet:263516", source="ORDO:263516/attributed", source="ORDO:263516/ntbt"}
xref: MESH:C567095 {source="MONDO:equivalentTo"}
xref: OMIM:611726 {source="MONDO:equivalentTo", source="Orphanet:263516", source="ORDO:263516/e"}
xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"}
xref: UMLS:C2673257 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:263516", source="OMIM:611726"}
is_a: MONDO:0016295 {source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0018287 ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0020074 {source="DC-OMIM:611726", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C567095
property_value: exactMatch http://identifiers.org/omim/611726
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673257
property_value: exactMatch Orphanet:263516
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 xsd:anyURI {source="GARD:0002167"}

[Term]
id: MONDO:0012722
name: Dauwerse-Peters syndrome
subset: gard_rare {source="GARD:0010568"}
synonym: "Dauwerse-Peters syndrome" EXACT [OMIM:611733]
synonym: "short stature, facial dysmorphism, severe brachydactyly and syndactyly" RELATED [GARD:0010568]
synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly" RELATED [OMIM:611733]
xref: GARD:0010568 {source="MONDO:equivalentTo"}
xref: MESH:C567093 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611733 {source="MONDO:equivalentTo"}
xref: UMLS:C2673203 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611733"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567093
property_value: exactMatch http://identifiers.org/omim/611733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673203
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome xsd:anyURI {source="GARD:0010568"}

[Term]
id: MONDO:0012723
name: Leber congenital amaurosis 10
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010487"}
synonym: "amaurosis congenita of Leber, type 10" RELATED [GARD:0010487]
synonym: "CEP290 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA10" EXACT [DOID:0110291, MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis 10" EXACT [MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis 10; LCA10" RELATED [OMIM:611755]
synonym: "Leber congenital amaurosis caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 10" EXACT [DOID:0110291, MONDORULE:2, OMIM:611755]
xref: DOID:0110291 {source="MONDO:equivalentTo"}
xref: GARD:0010487 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110291"}
xref: MESH:C565720 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611755 {source="DOID:0110291", source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="DC-OMIM:611755", source="DOID:0110291", source="MESH:C565720", source="MONDO:Redundant", source="OMIM:611755"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857821
property_value: exactMatch DOID:0110291
property_value: exactMatch http://identifiers.org/mesh/C565720
property_value: exactMatch http://identifiers.org/omim/611755
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10 xsd:anyURI {source="GARD:0010487"}

[Term]
id: MONDO:0012724
name: familial cold autoinflammatory syndrome 2
def: "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." [NCIT:C119043]
subset: ordo_disease {source="Orphanet:247868"}
synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762]
synonym: "familial cold autoinflammatory syndrome 2; FCAS2" RELATED [OMIM:611762]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 2" EXACT [DOID:0090063, MONDORULE:1, OMIM:611762, Orphanet:247868]
synonym: "FCAS2" EXACT [MONDO:Lexical, OMIM:611762, Orphanet:247868]
synonym: "NALP12-associated hereditary periodic fever syndrome" EXACT [NCIT:C119043]
synonym: "NAPS12" EXACT [Orphanet:247868]
synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063]
xref: DOID:0090063 {source="MONDO:equivalentTo"}
xref: ICD10:E85.0 {source="DOID:0090063", source="ORDO:247868/attributed", source="ORDO:247868/ntbt", source="Orphanet:247868"}
xref: MESH:C567090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119043 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:611762 {source="DOID:0090063", source="MONDO:equivalentTo", source="Orphanet:247868", source="ORDO:247868/e"}
xref: Orphanet:247868 {source="OMIM:611762", source="MONDO:equivalentTo"}
xref: UMLS:C2673198 {source="DOID:0090063", source="MEDGEN:kboom-pr98-c98", source="NCBI:mim2gene_medline", source="OMIM:611762", source="MONDO:equivalentTo", source="Orphanet:247868"}
xref: UMLS:C3897034 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98", source="NCIT:C119043"}
is_a: MONDO:0018768 {source="DC-OMIM:611762", source="DOID:0090063", source="MONDO:Redundant", source="OMIM:611762"} ! familial cold autoinflammatory syndrome
property_value: exactMatch DOID:0090063
property_value: exactMatch http://identifiers.org/mesh/C567090
property_value: exactMatch http://identifiers.org/omim/611762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3897034
property_value: exactMatch NCIT:C119043
property_value: exactMatch Orphanet:247868

[Term]
id: MONDO:0012725
name: lipoprotein glomerulopathy
subset: ordo_disease {source="Orphanet:329481"}
synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771]
synonym: "lipoprotein glomerulopathy; LPG" RELATED [OMIM:611771]
synonym: "LPG" EXACT [MONDO:Lexical, OMIM:611771, Orphanet:329481]
xref: ICD10:N07.8 {source="Orphanet:329481", source="ORDO:329481/attributed", source="ORDO:329481/ntbt"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567089 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611771 {source="Orphanet:329481", source="ORDO:329481/e", source="MONDO:equivalentTo"}
xref: Orphanet:329481 {source="OMIM:611771", source="MONDO:equivalentTo"}
xref: SCTID:446923008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2673196 {source="OMIM:611771", source="Orphanet:329481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:329481"} ! primary glomerular disease
is_a: MONDO:0015905 {source="Orphanet:329481"} ! syndromic dyslipidemia
property_value: exactMatch http://identifiers.org/mesh/C567089
property_value: exactMatch http://identifiers.org/omim/611771
property_value: exactMatch http://identifiers.org/snomedct/446923008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673196
property_value: exactMatch Orphanet:329481

[Term]
id: MONDO:0012726
name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
def: "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229]
subset: ordo_disease {source="Orphanet:73229"}
synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" RELATED [MONDO:Lexical, OMIM:611773]
synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC" RELATED [OMIM:611773]
synonym: "HANAC" RELATED [MONDO:Lexical, OMIM:611773]
synonym: "HANAC syndrome" EXACT [Orphanet:73229]
synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889]
synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229]
xref: GARD:0010889 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I99 {source="ORDO:73229/attributed", source="ORDO:73229/ntbt", source="Orphanet:73229"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567088 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611773 {source="MONDO:equivalentTo", source="ORDO:73229/e", source="Orphanet:73229"}
xref: Orphanet:73229 {source="OMIM:611773", source="MONDO:equivalentTo"}
xref: SCTID:702428000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.95"}
xref: UMLS:C2673195 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="OMIM:611773", source="MONDO:equivalentTo", source="Orphanet:73229"}
is_a: MONDO:0018790 {source="Orphanet:73229"} ! COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
is_a: MONDO:0019723 {source="Orphanet:73229"} ! disease of glomerular basement membrane
property_value: exactMatch http://identifiers.org/mesh/C567088
property_value: exactMatch http://identifiers.org/omim/611773
property_value: exactMatch http://identifiers.org/snomedct/702428000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673195
property_value: exactMatch Orphanet:73229

[Term]
id: MONDO:0012727
name: mucocutaneous lymph node syndrome
def: "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." [Orphanet:2331]
subset: ordo_disease {source="Orphanet:2331"}
synonym: "acute febrile MCLS" EXACT [DOID:13378, MTHICD9_2006:446.1]
synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378]
synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [DOID:13378, ICD9CM_2006:446.1]
synonym: "infantile polyarteritis" RELATED [OMIM:611775]
synonym: "infantile polyarteritis nodosa" EXACT [NCIT:C34825]
synonym: "Kawasaki disease" RELATED [OMIM:611775]
synonym: "Kawasaki syndrome" RELATED [GARD:0006816]
synonym: "Kawasaki's disease" EXACT [DOID:13378]
synonym: "Kd" RELATED [OMIM:611775]
synonym: "MLNS" EXACT [CSP2005:0571-6720, DOID:13378]
synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orphanet:2331]
xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"}
xref: EFO:0004246 {source="MONDO:equivalentTo", source="DOID:13378"}
xref: GARD:0006816 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M30.3 {source="Orphanet:2331", source="ORDO:2331/e", source="DOID:13378"}
xref: ICD9:446.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13378"}
xref: MedDRA:10023320 {source="Orphanet:2331", source="ORDO:2331/e"}
xref: MESH:D009080 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"}
xref: NCIT:C34825 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:611775 {source="Orphanet:2331", source="ORDO:2331/e", source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"}
xref: Orphanet:2331 {source="MONDO:equivalentTo", source="OMIM:611775"}
xref: SCTID:75053002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:13378"}
xref: UMLS:C0026691 {source="Orphanet:2331", source="NCIT:C34825", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611775", source="DOID:13378"}
is_a: MONDO:0002052 {source="DOID:13378"} ! lymphadenitis (disease)
is_a: MONDO:0015489 {source="Orphanet:2331"} ! predominantly medium-vessel vasculitis
property_value: closeMatch http://identifiers.org/snomedct/155444003
property_value: closeMatch http://identifiers.org/snomedct/195348009
property_value: closeMatch http://identifiers.org/snomedct/195349001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936917
property_value: exactMatch DOID:13378
property_value: exactMatch http://identifiers.org/meddra/10023320
property_value: exactMatch http://identifiers.org/mesh/D009080
property_value: exactMatch http://identifiers.org/omim/611775
property_value: exactMatch http://identifiers.org/snomedct/75053002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026691
property_value: exactMatch NCIT:C34825
property_value: exactMatch Orphanet:2331

[Term]
id: MONDO:0012728
name: Brugada syndrome 2
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA2" EXACT [DOID:0110219, MONDO:Lexical, OMIM:611777]
synonym: "Brugada syndrome 2" EXACT [MONDO:Lexical, OMIM:611777]
synonym: "Brugada syndrome 2; BRGDA2" RELATED [OMIM:611777]
synonym: "Brugada syndrome caused by mutation in GPD1L" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 2" EXACT [DOID:0110219, MONDORULE:1, OMIM:611777]
synonym: "GPD1L Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110219 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110219"}
xref: MESH:C567087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611777 {source="DOID:0110219", source="MONDO:equivalentTo"}
xref: UMLS:C2673193 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611777"}
is_a: MONDO:0015263 {source="DC-OMIM:611777", source="DOID:0110219", source="MESH:C567087", source="MONDO:Redundant", source="OMIM:611777"} ! Brugada syndrome
property_value: exactMatch DOID:0110219
property_value: exactMatch http://identifiers.org/mesh/C567087
property_value: exactMatch http://identifiers.org/omim/611777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673193

[Term]
id: MONDO:0012729
name: erythrocytosis, familial, 4
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ECYT4" RELATED [MONDO:Lexical, OMIM:611783]
synonym: "EPAS1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 4" EXACT [MONDO:Lexical, OMIM:611783]
synonym: "erythrocytosis, familial, 4; ECYT4" RELATED [OMIM:611783]
synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:611783]
synonym: "familial polycythemia caused by mutation in EPAS1" EXACT [MONDO:design_pattern]
xref: DOID:0080339 {source="MONDO:equivalentTo"}
xref: MESH:C567086 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611783 {source="MONDO:equivalentTo", source="DOID:0080339"}
xref: UMLS:C2673187 {source="OMIM:611783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016599 {source="ORDO:247511/btnt"} ! autosomal dominant secondary polycythemia
property_value: exactMatch DOID:0080339
property_value: exactMatch http://identifiers.org/mesh/C567086
property_value: exactMatch http://identifiers.org/omim/611783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673187

[Term]
id: MONDO:0012730
name: aortic aneurysm, familial thoracic 6
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AAT6" RELATED [MONDO:Lexical, OMIM:611788]
synonym: "ACTA2 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "aortic aneurysm, familial thoracic 6" EXACT [MONDO:Lexical, OMIM:611788]
synonym: "aortic aneurysm, familial thoracic 6; AAT6" RELATED [OMIM:611788]
synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1, OMIM:611788]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2" EXACT [MONDO:design_pattern]
synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [OMIM:611788]
xref: MESH:C567085 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611788 {source="MONDO:equivalentTo"}
xref: UMLS:C2673186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611788"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:611788", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/mesh/C567085
property_value: exactMatch http://identifiers.org/omim/611788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673186

[Term]
id: MONDO:0012731
name: elliptocytosis 1
def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "4.1- trait" RELATED [OMIM:611804]
synonym: "4.1-minus trait" RELATED [OMIM:611804]
synonym: "EL1" RELATED [MONDO:Lexical, OMIM:611804]
synonym: "elliptocytosis 1" EXACT [MONDO:Lexical, OMIM:611804]
synonym: "elliptocytosis 1; EL1" RELATED [OMIM:611804]
synonym: "elliptocytosis type 1" EXACT [MONDORULE:1, OMIM:611804]
synonym: "elliptocytosis, Rhesus-linked type" RELATED [OMIM:611804]
synonym: "EPB41 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary elliptocytosis caused by mutation in EPB41" EXACT [MONDO:design_pattern]
synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [OMIM:611804]
xref: MESH:C567520 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611804 {source="MONDO:equivalentTo"}
xref: UMLS:C2678497 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611804"}
is_a: MONDO:0017319 {source="DC-OMIM:611804", source="MESH:C567520", source="MONDO:Redundant"} ! hereditary elliptocytosis
property_value: exactMatch http://identifiers.org/mesh/C567520
property_value: exactMatch http://identifiers.org/omim/611804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678497

[Term]
id: MONDO:0012732
name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
synonym: "ETINPH" RELATED [MONDO:Lexical, OMIM:611808]
synonym: "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" EXACT [MONDO:Lexical, OMIM:611808]
synonym: "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus; ETINPH" RELATED [OMIM:611808]
xref: MESH:C567519 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611808 {source="MONDO:equivalentTo"}
xref: UMLS:C2678494 {source="OMIM:611808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567519
property_value: exactMatch http://identifiers.org/omim/611808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678494

[Term]
id: MONDO:0012733
name: autosomal recessive bestrophinopathy
def: "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." [Orphanet:139455]
subset: ordo_disease {source="Orphanet:139455"}
synonym: "ARB" RELATED [MONDO:Lexical, OMIM:611809]
synonym: "bestrophinopathy" EXACT [DOID:0050662]
synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809]
synonym: "bestrophinopathy, autosomal recessive; ARB" RELATED [OMIM:611809]
synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455]
xref: DOID:0050662 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="ORDO:139455/attributed", source="ORDO:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"}
xref: MESH:C567518 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611809 {source="DOID:0050662", source="MONDO:equivalentTo", source="Orphanet:139455", source="ORDO:139455/e"}
xref: Orphanet:139455 {source="OMIM:611809", source="MONDO:equivalentTo"}
xref: SCTID:723828008 {source="MONDO:equivalentTo"}
xref: UMLS:C2678493 {source="OMIM:611809", source="MONDO:equivalentTo"}
xref: UMLS:C3888198 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003004 {source="DOID:0050662"} ! macular degeneration
is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy
property_value: exactMatch DOID:0050662
property_value: exactMatch http://identifiers.org/mesh/C567518
property_value: exactMatch http://identifiers.org/omim/611809
property_value: exactMatch http://identifiers.org/snomedct/723828008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678493
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888198
property_value: exactMatch Orphanet:139455

[Term]
id: MONDO:0012734
name: SERKAL syndrome
def: "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." [Orphanet:139466]
subset: ordo_malformation_syndrome {source="Orphanet:139466"}
synonym: "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" EXACT [NCIT:C123726]
synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical, OMIM:611812]
synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs; SERKAL" RELATED [OMIM:611812]
synonym: "SERKAL" RELATED [MONDO:Lexical, OMIM:611812]
synonym: "SERKAL syndrome" EXACT [OMIM:611812]
synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466]
xref: GARD:0010302 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:139466/attributed", source="ORDO:139466/ntbt", source="Orphanet:139466"}
xref: MESH:C567517 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123726 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:611812 {source="MONDO:equivalentTo", source="Orphanet:139466", source="ORDO:139466/e"}
xref: Orphanet:139466 {source="MONDO:equivalentTo", source="OMIM:611812"}
xref: SCTID:723720008 {source="MONDO:equivalentTo"}
xref: UMLS:C2678492 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C123726", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611812", source="Orphanet:139466"}
is_a: MONDO:0009299 {source="DC-OMIM:611812"} ! 46 XX gonadal dysgenesis
is_a: MONDO:0017965 {source="Orphanet:139466"} ! syndrome with 46,XX disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C567517
property_value: exactMatch http://identifiers.org/omim/611812
property_value: exactMatch http://identifiers.org/snomedct/723720008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678492
property_value: exactMatch NCIT:C123726
property_value: exactMatch Orphanet:139466

[Term]
id: MONDO:0012735
name: Temple-Baraitser syndrome
def: "Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." [Orphanet:420561]
subset: ordo_disease {source="Orphanet:420561"}
synonym: "mental retardation, severe, and absent nails of hallux and pollex" RELATED [OMIM:611816]
synonym: "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome" EXACT [Orphanet:420561]
synonym: "severe mental retardation and absent nails of hallux and pollex" RELATED [GARD:0009441]
synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816]
synonym: "Temple-Baraitser syndrome; TMBTS" RELATED [OMIM:611816]
synonym: "TMBTS" EXACT [MONDO:Lexical, OMIM:611816, Orphanet:420561]
xref: EFO:0009062 {source="MONDO:equivalentTo"}
xref: GARD:0009441 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:420561", source="ORDO:420561/attributed", source="ORDO:420561/ntbt"}
xref: MESH:C567516 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611816 {source="Orphanet:420561", source="MONDO:equivalentTo", source="ORDO:420561/e"}
xref: Orphanet:420561 {source="MONDO:equivalentTo", source="OMIM:611816"}
xref: UMLS:C2678486 {source="Orphanet:420561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611816"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:420561", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="EFO:0009062", source="Orphanet:420561"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019285 {source="Orphanet:420561"} ! syndromic nail anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C567516
property_value: exactMatch http://identifiers.org/omim/611816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678486
property_value: exactMatch Orphanet:420561

[Term]
id: MONDO:0012736
name: long QT syndrome 9
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010435"}
synonym: "CAV3 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:611818]
synonym: "long QT syndrome 9" EXACT [MONDO:Lexical, OMIM:611818]
synonym: "long QT syndrome 9, acquired, susceptibility to" RELATED [OMIM:611818]
synonym: "long QT syndrome 9; LQT9" RELATED [OMIM:611818]
synonym: "long QT syndrome caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 9" EXACT [DOID:0110650, MONDORULE:1, OMIM:611818]
synonym: "LQT9" EXACT [DOID:0110650, MONDO:Lexical, OMIM:611818]
xref: DOID:0110650 {source="MONDO:equivalentTo"}
xref: GARD:0010435 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110650"}
xref: MESH:C567515 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611818 {source="MONDO:equivalentTo", source="DOID:0110650"}
is_a: MONDO:0019171 {source="OMIM:611818", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678485
property_value: exactMatch DOID:0110650
property_value: exactMatch http://identifiers.org/mesh/C567515
property_value: exactMatch http://identifiers.org/omim/611818
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 xsd:anyURI {source="GARD:0010435"}

[Term]
id: MONDO:0012737
name: long QT syndrome 10
def: "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010436"}
synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819]
synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819]
synonym: "long QT syndrome 10; LQT10" RELATED [OMIM:611819]
synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:611819]
synonym: "LQT10" EXACT [DOID:0110651, MONDO:Lexical, OMIM:611819]
synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110651 {source="MONDO:equivalentTo"}
xref: GARD:0010436 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110651"}
xref: MESH:C567514 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611819 {source="MONDO:equivalentTo", source="DOID:0110651"}
xref: UMLS:C2678484 {source="OMIM:611819", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:611819", source="ORDO:768/btnt"} ! familial long QT syndrome
property_value: exactMatch DOID:0110651
property_value: exactMatch http://identifiers.org/mesh/C567514
property_value: exactMatch http://identifiers.org/omim/611819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678484
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 xsd:anyURI {source="GARD:0010436"}

[Term]
id: MONDO:0012738
name: long QT syndrome 11
def: "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010437"}
synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820]
synonym: "long QT syndrome 11; LQT11" RELATED [OMIM:611820]
synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820]
synonym: "LQT11" EXACT [DOID:0110652, MONDO:Lexical, OMIM:611820]
xref: DOID:0110652 {source="MONDO:equivalentTo"}
xref: GARD:0010437 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110652"}
xref: MESH:C567513 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611820 {source="MONDO:equivalentTo", source="DOID:0110652"}
xref: UMLS:C2678483 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611820"}
is_a: MONDO:0019171 {source="OMIM:611820", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: exactMatch DOID:0110652
property_value: exactMatch http://identifiers.org/mesh/C567513
property_value: exactMatch http://identifiers.org/omim/611820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678483
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 xsd:anyURI {source="GARD:0010437"}

[Term]
id: MONDO:0012739
name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
def: "This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." [Orphanet:139450]
subset: ordo_malformation_syndrome {source="Orphanet:139450"}
synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450]
synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300]
synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863]
xref: GARD:0010300 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q15.8 {source="ORDO:139450/attributed", source="ORDO:139450/ntbt", source="Orphanet:139450"}
xref: MESH:C567512 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611863 {source="MONDO:equivalentTo", source="ORDO:139450/e", source="Orphanet:139450"}
xref: Orphanet:139450 {source="MONDO:equivalentTo", source="OMIM:611863"}
xref: UMLS:C2678482 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611863", source="MEDGEN:kboom-pr92-c96", source="Orphanet:139450"}
is_a: MONDO:0015218 {source="Orphanet:139450"} ! syndromic developmental defect of the eye
is_a: MONDO:0020149 {source="Orphanet:139450"} ! rare eye disease due to a differentiation anomaly
property_value: exactMatch http://identifiers.org/mesh/C567512
property_value: exactMatch http://identifiers.org/omim/611863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678482
property_value: exactMatch Orphanet:139450

[Term]
id: MONDO:0012740
name: chromosome 22q11.2 deletion syndrome, distal
def: "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours." [Orphanet:261330]
subset: ordo_malformation_syndrome {source="Orphanet:261330"}
synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [OMIM:611867]
synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413]
synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:611867]
synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330]
synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330]
xref: DOID:0060413 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:261330", source="ORDO:261330/attributed", source="ORDO:261330/ntbt"}
xref: MESH:C567511 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611867 {source="Orphanet:261330", source="ORDO:261330/e", source="DOID:0060413", source="MONDO:equivalentTo"}
xref: Orphanet:261330 {source="DOID:0060413", source="MONDO:equivalentTo", source="OMIM:611867"}
xref: SCTID:734029004 {source="MONDO:equivalentTo"}
xref: UMLS:C2678480 {source="Orphanet:261330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="OMIM:611867"}
xref: UMLS:C4518343 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000761 {source="DC-OMIM:611867", source="DOID:0060413"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016920 {source="Orphanet:261330"} ! partial deletion of the long arm of chromosome 22
property_value: exactMatch DOID:0060413
property_value: exactMatch http://identifiers.org/mesh/C567511
property_value: exactMatch http://identifiers.org/omim/611867
property_value: exactMatch http://identifiers.org/snomedct/734029004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518343
property_value: exactMatch Orphanet:261330

[Term]
id: MONDO:0012741
name: prostate cancer, hereditary, 12
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EHBP1 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in EHBP1" EXACT [MONDO:design_pattern]
synonym: "HPC12" RELATED [MONDO:Lexical, OMIM:611868]
synonym: "prostate cancer, hereditary, 12" EXACT [MONDO:Lexical, OMIM:611868]
synonym: "prostate cancer, hereditary, 12; HPC12" RELATED [OMIM:611868]
synonym: "prostate cancer, hereditary, type 12" EXACT [MONDORULE:2, OMIM:611868]
xref: MESH:C567510 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611868 {source="MONDO:equivalentTo"}
xref: UMLS:C2678479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611868"}
is_a: MONDO:0023122 {source="MONDO:Redundant", source="MONDOLEX:0012741"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567510
property_value: exactMatch http://identifiers.org/omim/611868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678479

[Term]
id: MONDO:0012742
name: Brugada syndrome 3
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010361"}
synonym: "BRGDA3" EXACT [DOID:0110220, MONDO:Lexical, OMIM:611875]
synonym: "Brugada syndrome 3" EXACT [MONDO:Lexical, OMIM:611875]
synonym: "Brugada syndrome 3; BRGDA3" RELATED [OMIM:611875]
synonym: "Brugada syndrome caused by mutation in CACNA1C" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 3" EXACT [DOID:0110220, MONDORULE:1, OMIM:611875]
synonym: "CACNA1C Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110220 {source="MONDO:equivalentTo"}
xref: GARD:0010361 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110220"}
xref: MESH:C567509 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611875 {source="MONDO:equivalentTo", source="DOID:0110220"}
xref: UMLS:C2678478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611875"}
is_a: MONDO:0015263 {source="DC-OMIM:611875", source="DOID:0110220", source="MESH:C567509", source="MONDO:Redundant", source="OMIM:611875"} ! Brugada syndrome
property_value: exactMatch DOID:0110220
property_value: exactMatch http://identifiers.org/mesh/C567509
property_value: exactMatch http://identifiers.org/omim/611875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678478
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3 xsd:anyURI {source="GARD:0010361"}

[Term]
id: MONDO:0012743
name: Brugada syndrome 4
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010362"}
synonym: "BRGDA4" EXACT [DOID:0110221, MONDO:Lexical, OMIM:611876]
synonym: "Brugada syndrome 4" EXACT [MONDO:Lexical, OMIM:611876]
synonym: "Brugada syndrome 4; BRGDA4" RELATED [OMIM:611876]
synonym: "Brugada syndrome caused by mutation in CACNB2" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 4" EXACT [DOID:0110221, MONDORULE:1, OMIM:611876]
synonym: "CACNB2 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110221 {source="MONDO:equivalentTo"}
xref: GARD:0010362 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110221"}
xref: MESH:C567508 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611876 {source="MONDO:equivalentTo", source="DOID:0110221"}
xref: UMLS:C2678477 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611876"}
is_a: MONDO:0015263 {source="DC-OMIM:611876", source="DOID:0110221", source="MESH:C567508", source="MONDO:Redundant", source="OMIM:611876"} ! Brugada syndrome
property_value: exactMatch DOID:0110221
property_value: exactMatch http://identifiers.org/mesh/C567508
property_value: exactMatch http://identifiers.org/omim/611876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678477
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4 xsd:anyURI {source="GARD:0010362"}

[Term]
id: MONDO:0012744
name: dilated cardiomyopathy 1Y
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1Y" RELATED [MONDO:Lexical, OMIM:611878]
synonym: "cardiomyopathy, dilated, 1Y; CMD1Y" RELATED [OMIM:611878]
synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4, OMIM:611878]
synonym: "CMD1Y" EXACT [DOID:0110457, MONDO:Lexical, OMIM:611878]
synonym: "dilated cardiomyopathy type 1Y" EXACT [DOID:0110457, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 9" RELATED [OMIM:611878]
synonym: "TPM1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110457 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="DOID:0110457", source="MONDO:subClassOf"}
xref: MESH:C567507 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611878 {source="DOID:0110457", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:611878", source="MONDOLEX:0012744", source="OMIM:611878"} ! left ventricular noncompaction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678476
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808145
property_value: exactMatch DOID:0110457
property_value: exactMatch http://identifiers.org/mesh/C567507
property_value: exactMatch http://identifiers.org/omim/611878

[Term]
id: MONDO:0012745
name: dilated cardiomyopathy 1Z
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1Z" RELATED [MONDO:Lexical, OMIM:611879]
synonym: "cardiomyopathy, dilated, 1Z; CMD1Z" RELATED [OMIM:611879]
synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4, OMIM:611879]
synonym: "CMD1Z" EXACT [DOID:0110434, MONDO:Lexical, OMIM:611879]
synonym: "dilated cardiomyopathy type 1Z" EXACT [DOID:0110434, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern]
synonym: "TNNC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110434 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110434"}
xref: MESH:C567506 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611879 {source="DOID:0110434", source="MONDO:equivalentTo"}
xref: UMLS:C2678475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611879"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110434
property_value: exactMatch http://identifiers.org/mesh/C567506
property_value: exactMatch http://identifiers.org/omim/611879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678475

[Term]
id: MONDO:0012746
name: dilated cardiomyopathy 2A
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13." [DOID:0110460, PMID:15070570]
synonym: "cardiomyopathy, congestive, autosomal recessive" RELATED [OMIM:611880]
synonym: "cardiomyopathy, dilated, 2A" RELATED [MONDO:Lexical, OMIM:611880]
synonym: "cardiomyopathy, dilated, 2A; CMD2A" RELATED [OMIM:611880]
synonym: "cardiomyopathy, dilated, autosomal recessive" RELATED [OMIM:611880]
synonym: "cardiomyopathy, dilated, type 2A" EXACT [MONDORULE:4, OMIM:611880]
synonym: "CMD2A" EXACT [DOID:0110460, MONDO:Lexical, OMIM:611880]
synonym: "dilated cardiomyopathy type 2A" EXACT [DOID:0110460, MONDORULE:4]
xref: DOID:0110460 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110460"}
xref: OMIM:611880 {source="MONDO:equivalentTo", source="DOID:0110460"}
xref: UMLS:C2678474 {source="OMIM:611880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110460
property_value: exactMatch http://identifiers.org/omim/611880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678474

[Term]
id: MONDO:0012747
name: glycogen storage disease due to aldolase A deficiency
def: "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." [Orphanet:57]
subset: ordo_disease {source="Orphanet:57"}
synonym: "Aldoa deficiency" RELATED [OMIM:611881]
synonym: "aldolase a deficiency" RELATED [OMIM:611881]
synonym: "aldolase deficiency red cell" RELATED [GARD:0000600]
synonym: "aldolase deficiency, Red cell" RELATED [OMIM:611881]
synonym: "glycogen storage disease 12" RELATED [GARD:0000600, OMIM:611881]
synonym: "glycogen storage disease type 12" EXACT [MONDORULE:2, OMIM:611881, Orphanet:57]
synonym: "glycogen storage disease type XII" EXACT [Orphanet:57]
synonym: "glycogen storage disease XII" RELATED [MONDO:Lexical, OMIM:611881]
synonym: "glycogen storage disease XII; GSD12" RELATED [OMIM:611881]
synonym: "glycogenosis due to aldolase A deficiency" EXACT [Orphanet:57]
synonym: "glycogenosis type 12" EXACT [Orphanet:57]
synonym: "glycogenosis type XII" EXACT [Orphanet:57]
synonym: "GSD 12" RELATED [OMIM:611881]
synonym: "GSD due to aldolase A deficiency" EXACT [Orphanet:57]
synonym: "GSD type 12" EXACT [Orphanet:57]
synonym: "GSD type XII" EXACT [Orphanet:57]
synonym: "GSD12" RELATED [MONDO:Lexical, OMIM:611881]
synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881]
xref: GARD:0000600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:57", source="ORDO:57/attributed", source="ORDO:57/ntbt"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611881 {source="ORDO:57/e", source="Orphanet:57", source="MONDO:equivalentTo"}
xref: Orphanet:57 {source="OMIM:611881", source="MONDO:equivalentTo"}
xref: SCTID:111578003 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
xref: UMLS:C0272066 {source="MEDGEN:kboom-pr98-c99", source="ORDO:57/e", source="OMIM:611881", source="NCBI:mim2gene_medline", source="Orphanet:57", source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="DC-OMIM:611881", source="MESH:C562718", source="Orphanet:57"} ! glycogen storage disease
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0020106 {source="Orphanet:57"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: exactMatch http://identifiers.org/mesh/C562718
property_value: exactMatch http://identifiers.org/omim/611881
property_value: exactMatch http://identifiers.org/snomedct/111578003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272066
property_value: exactMatch Orphanet:57

[Term]
id: MONDO:0012748
name: primary ciliary dyskinesia 7
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD7" EXACT [DOID:0110605, MONDO:Lexical, OMIM:611884]
synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical, OMIM:611884]
synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [OMIM:611884]
synonym: "ciliary dyskinesia, primary, 7; CILD7" RELATED [OMIM:611884]
synonym: "ciliary dyskinesia, primary, type 7" EXACT [MONDORULE:1, OMIM:611884]
synonym: "DNAH11 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [DOID:0110605]
synonym: "primary ciliary dyskinesia caused by mutation in DNAH11" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 7" EXACT [DOID:0110605, MONDORULE:1]
xref: DOID:0110605 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110605"}
xref: MESH:C567504 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611884 {source="MONDO:equivalentTo", source="DOID:0110605"}
xref: UMLS:C2678473 {source="OMIM:611884", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:611884", source="DOID:0110605", source="MESH:C567504", source="MESH:C567504/inferred", source="MONDO:Redundant", source="MONDOLEX:0012748", source="OMIM:611884"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110605
property_value: exactMatch http://identifiers.org/mesh/C567504
property_value: exactMatch http://identifiers.org/omim/611884
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678473

[Term]
id: MONDO:0012749
name: mesomelic dysplasia, camera type
synonym: "mesomelic dysplasia, camera type" EXACT [OMIM:611886]
xref: MESH:C567503 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611886 {source="MONDO:equivalentTo"}
xref: UMLS:C2678472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611886"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567503
property_value: exactMatch http://identifiers.org/omim/611886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678472

[Term]
id: MONDO:0012750
name: lethal arthrogryposis-anterior horn cell disease syndrome
subset: ordo_malformation_syndrome {source="Orphanet:53696"}
synonym: "LAAHD" EXACT [MONDO:Lexical, OMIM:611890, Orphanet:53696]
synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890]
synonym: "lethal arthrogryposis with anterior horn cell disease; LAAHD" RELATED [OMIM:611890]
synonym: "Vuopala disease" EXACT [Orphanet:53696]
xref: MESH:C567502 {source="MONDO:equivalentTo"}
xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="ORDO:53696/e"}
xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"}
xref: SCTID:715565004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.79"}
xref: UMLS:C2678471 {source="Orphanet:53696", source="OMIM:611890", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:53696"} ! arthrogryposis multiplex congenita
property_value: exactMatch http://identifiers.org/mesh/C567502
property_value: exactMatch http://identifiers.org/omim/611890
property_value: exactMatch http://identifiers.org/snomedct/715565004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678471
property_value: exactMatch Orphanet:53696

[Term]
id: MONDO:0012751
name: AAA3
synonym: "AAA3" EXACT [MONDO:Lexical, OMIM:611891]
synonym: "aortic aneurysm, familial abdominal, 3" RELATED [MONDO:Lexical, OMIM:611891]
synonym: "aortic aneurysm, familial abdominal, 3; AAA3" RELATED [OMIM:611891]
xref: MESH:C567501 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611891 {source="MONDO:equivalentTo"}
xref: UMLS:C2678470 {source="OMIM:611891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007031 {source="MONDOLEX:0012751", source="OMIM:611891", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567501
property_value: exactMatch http://identifiers.org/omim/611891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678470

[Term]
id: MONDO:0012752
name: ANIB6
synonym: "aneurysm, intracranial BERRY, 6" RELATED [MONDO:Lexical, OMIM:611892]
synonym: "aneurysm, intracranial BERRY, 6; ANIB6" RELATED [OMIM:611892]
synonym: "ANIB6" EXACT [MONDO:Lexical, OMIM:611892]
xref: MESH:C567500 {source="MONDO:equivalentTo"}
xref: OMIM:611892 {source="MONDO:equivalentTo"}
xref: UMLS:C2678469 {source="OMIM:611892", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016483 {source="DC-OMIM:611892", source="OMIM:611892"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567500
property_value: exactMatch http://identifiers.org/omim/611892
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678469

[Term]
id: MONDO:0012753
name: amyotrophic lateral sclerosis type 9
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010498"}
synonym: "ALS9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895]
synonym: "amyotrophic lateral sclerosis 9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895]
synonym: "amyotrophic lateral sclerosis 9; ALS9" RELATED [OMIM:611895]
synonym: "amyotrophic lateral sclerosis caused by mutation in ANG" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 9" EXACT [MONDORULE:1, OMIM:611895]
synonym: "ANG amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060200 {source="MONDO:equivalentTo"}
xref: GARD:0010498 {source="MONDO:equivalentTo"}
xref: MESH:C567499 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611895 {source="DOID:0060200", source="MONDO:equivalentTo"}
xref: UMLS:C2678468 {source="MEDGEN:kboom-pr98-c99", source="OMIM:611895", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="DC-OMIM:611895", source="DOID:0060200", source="MESH:C567499", source="MONDO:Redundant", source="MONDOLEX:0012753", source="OMIM:611895"} ! amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060200
property_value: exactMatch http://identifiers.org/mesh/C567499
property_value: exactMatch http://identifiers.org/omim/611895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678468
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9 xsd:anyURI {source="GARD:0010498"}

[Term]
id: MONDO:0012754
name: NNO3
synonym: "Nanophthalmia 3" RELATED [OMIM:611897]
synonym: "nanophthalmos 3" RELATED [MONDO:Lexical, OMIM:611897]
synonym: "nanophthalmos 3; NNO3" RELATED [OMIM:611897]
synonym: "NNO3" EXACT [MONDO:Lexical, OMIM:611897]
xref: MESH:C567498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611897 {source="MONDO:equivalentTo"}
xref: UMLS:C2678467 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611897"}
is_a: MONDO:0005514 {source="DC-OMIM:611897"} ! nanophthalmia
property_value: exactMatch http://identifiers.org/mesh/C567498
property_value: exactMatch http://identifiers.org/omim/611897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678467

[Term]
id: MONDO:0012755
name: episodic ataxia type 7
def: "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." [Orphanet:209970]
subset: ordo_disease {source="Orphanet:209970"}
synonym: "EA7" RELATED [MONDO:Lexical, OMIM:611907]
synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907]
synonym: "episodic ataxia, type 7; EA7" RELATED [OMIM:611907]
xref: DOID:0050995 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:209970/attributed", source="ORDO:209970/ntbt", source="Orphanet:209970"}
xref: MESH:C567459 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="ORDO:209970/e"}
xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"}
xref: SCTID:718752007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2677843 {source="OMIM:611907", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:209970"}
is_a: MONDO:0016227 {source="DOID:0050995", source="OMIM:611907", source="Orphanet:209970", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050995
property_value: exactMatch http://identifiers.org/mesh/C567459
property_value: exactMatch http://identifiers.org/omim/611907
property_value: exactMatch http://identifiers.org/snomedct/718752007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677843
property_value: exactMatch Orphanet:209970

[Term]
id: MONDO:0012756
name: proximal 16p11.2 microdeletion syndrome
def: "The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." [Orphanet:261197]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:261197"}
subset: predisposition
synonym: "16p11.2 deletion syndrome" RELATED [GARD:0010740]
synonym: "autism, susceptibility to, 14A" RELATED [OMIM:611913]
synonym: "chromosome 16p11.2 deletion syndrome" RELATED [GARD:0010740]
synonym: "chromosome 16p11.2 deletion syndrome, 593-KB" RELATED [OMIM:611913]
synonym: "Del(16)(p11.2)" RELATED [GARD:0010740]
synonym: "microdeletion 16p11.2" RELATED [GARD:0010740]
synonym: "monosomy 16p11.2" RELATED [GARD:0010740]
synonym: "proximal del(16)(p11.2)" EXACT [Orphanet:261197]
synonym: "proximal monosomy 16p11.2" EXACT [Orphanet:261197]
xref: GARD:0010740 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:261197", source="ORDO:261197/attributed", source="ORDO:261197/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C579850 {source="MONDO:equivalentTo"}
xref: NCIT:C120408 {source="MONDO:equivalentTo"}
xref: OMIM:611913 {source="ORDO:261197/e", source="GARD:0010740", source="Orphanet:261197", source="MONDO:equivalentTo"}
xref: Orphanet:261197 {source="GARD:0010740", source="MONDO:equivalentTo", source="OMIM:611913"}
xref: SCTID:699307007 {source="MONDO:equivalentTo"}
xref: SCTID:718227006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN202166 {source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:611913"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005260 {source="DC-OMIM:611913", source="MONDOLEX:0012756", source="OMIM:611913"} ! autism (disease)
is_a: MONDO:0016894 {source="Orphanet:261197"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150154
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552491
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/mesh/C579850
property_value: exactMatch http://identifiers.org/omim/611913
property_value: exactMatch http://identifiers.org/snomedct/699307007
property_value: exactMatch http://identifiers.org/snomedct/718227006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202166
property_value: exactMatch NCIT:C120408
property_value: exactMatch Orphanet:261197
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome xsd:anyURI {source="GARD:0010740"}

[Term]
id: MONDO:0012757
name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
def: "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." [Orphanet:137631]
subset: ordo_disease {source="Orphanet:137631"}
synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926]
xref: ICD10:D82.8 {source="Orphanet:137631", source="ORDO:137631/attributed", source="ORDO:137631/ntbt"}
xref: OMIM:611926 {source="Orphanet:137631", source="ORDO:137631/e", source="MONDO:equivalentTo"}
xref: Orphanet:137631 {source="MONDO:equivalentTo", source="OMIM:611926"}
xref: SCTID:721977007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C3150156 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611926"}
is_a: MONDO:0017015 {source="Orphanet:137631"} ! primary interstitial lung disease specific to childhood
is_a: MONDO:0017965 {source="Orphanet:137631"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:137631"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0044200 {source="Orphanet:137631"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/611926
property_value: exactMatch http://identifiers.org/snomedct/721977007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150156
property_value: exactMatch Orphanet:137631

[Term]
id: MONDO:0012758
name: prostate cancer, hereditary, 13
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in MSMB" EXACT [MONDO:design_pattern]
synonym: "HPC13" RELATED [MONDO:Lexical, OMIM:611928]
synonym: "MSMB familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prostate cancer, hereditary, 13" EXACT [MONDO:Lexical, OMIM:611928]
synonym: "prostate cancer, hereditary, 13; HPC13" RELATED [OMIM:611928]
synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2, OMIM:611928]
xref: MESH:C567456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611928 {source="MONDO:equivalentTo"}
xref: UMLS:C2677821 {source="OMIM:611928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDO:Redundant", source="MONDOLEX:0012758"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567456
property_value: exactMatch http://identifiers.org/omim/611928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677821

[Term]
id: MONDO:0012759
name: camptodactyly syndrome, Guadalajara type 3
def: "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." [Orphanet:488434]
subset: ordo_malformation_syndrome
synonym: "camptodactyly syndrome Guadalajara type 3" RELATED [GARD:0010573]
synonym: "camptodactyly syndrome, Guadalajara, type 3" RELATED [OMIM:611929]
synonym: "camptodactyly syndrome, Guadalajara, type III" RELATED [OMIM:611929]
xref: GARD:0010573 {source="MONDO:equivalentTo"}
xref: MESH:C567455 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611929 {source="Orphanet:488434", source="MONDO:equivalentTo"}
xref: Orphanet:488434 {source="MONDO:equivalentTo"}
xref: UMLS:C2677809 {source="OMIM:611929", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000111 {source="DC-OMIM:611929"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488434", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:488434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015226 ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:488434"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C567455
property_value: exactMatch http://identifiers.org/omim/611929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677809
property_value: exactMatch Orphanet:488434
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 xsd:anyURI {source="GARD:0010573"}

[Term]
id: MONDO:0012760
name: EIG5
subset: predisposition
synonym: "EIG5" EXACT [MONDO:Lexical, OMIM:611934]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:611934]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 5; EIG5" RELATED [OMIM:611934]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:611934]
xref: OMIM:611934 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DC-OMIM:611934"} ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677808
property_value: exactMatch http://identifiers.org/omim/611934

[Term]
id: MONDO:0012761
name: chromosome 3q29 microduplication syndrome
def: "3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance." [Orphanet:251038]
subset: gard_rare {source="GARD:0010360"}
subset: ordo_malformation_syndrome {source="Orphanet:251038"}
synonym: "3q29 microduplication" EXACT [DOID:0060459]
synonym: "3q29 microduplication syndrome" RELATED [Orphanet:251038]
synonym: "chromosome 3q29 DUPLICATION syndrome" RELATED [OMIM:611936]
synonym: "microduplication 3Q29 syndrome" RELATED [OMIM:611936]
synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038]
xref: DOID:0060459 {source="MONDO:equivalentTo"}
xref: GARD:0010360 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:251038/attributed", source="ORDO:251038/ntbt", source="DOID:0060459", source="Orphanet:251038"}
xref: MESH:C567626 {source="MONDO:equivalentTo", source="DOID:0060459", source="MONDO:ontobio"}
xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="ORDO:251038/e"}
xref: Orphanet:251038 {source="MONDO:equivalentTo", source="DOID:0060459", source="OMIM:611936"}
xref: SCTID:717973004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C2749873 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251038", source="OMIM:611936"}
is_a: MONDO:0000762 {source="DC-OMIM:611936", source="DOID:0060459"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016954 {source="MONDOLEX:0012761", source="Orphanet:251038"} ! partial duplication of the long arm of chromosome 3
property_value: exactMatch DOID:0060459
property_value: exactMatch http://identifiers.org/mesh/C567626
property_value: exactMatch http://identifiers.org/omim/611936
property_value: exactMatch http://identifiers.org/snomedct/717973004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2749873
property_value: exactMatch Orphanet:251038
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome xsd:anyURI {source="GARD:0010360"}

[Term]
id: MONDO:0012762
name: catecholaminergic polymorphic ventricular tachycardia 2
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CASQ2 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 2" EXACT [DOID:0060676, MONDORULE:1]
synonym: "CPVT2" RELATED [MONDO:Lexical, OMIM:611938]
synonym: "CVPT2" EXACT [DOID:0060676]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2" RELATED [MONDO:Lexical, OMIM:611938]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2; CPVT2" RELATED [OMIM:611938]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 2" EXACT [MONDORULE:1, OMIM:611938]
synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:611938]
xref: DOID:0060676 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060676"}
xref: NCIT:C148368 {source="MONDO:equivalentTo"}
xref: OMIM:611938 {source="MONDO:equivalentTo", source="DOID:0060676"}
xref: UMLS:C2677794 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611938"}
is_a: MONDO:0017990 {source="DC-OMIM:611938", source="DOID:0060676", source="MONDO:Redundant", source="OMIM:611938"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060676
property_value: exactMatch http://identifiers.org/omim/611938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677794
property_value: exactMatch NCIT:C148368

[Term]
id: MONDO:0012763
name: epilepsy, childhood absence, susceptibility to, 6
def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNA1H childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "childhood absence epilepsy caused by mutation in CACNA1H" EXACT [MONDO:design_pattern]
synonym: "ECA6" RELATED [MONDO:Lexical, OMIM:611942]
synonym: "epilepsy, childhood absence, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611942]
synonym: "epilepsy, childhood absence, susceptibility to, 6; ECA6" RELATED [OMIM:611942]
synonym: "epilepsy, childhood absence, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611942]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 6" RELATED [OMIM:611942]
synonym: "susceptibility to childhood absence epilepsy 6" RELATED [OMIM:611942]
xref: OMIM:611942 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0010826 ! childhood absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677793
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749872
property_value: exactMatch http://identifiers.org/omim/611942

[Term]
id: MONDO:0012764
name: RIDDLE syndrome
def: "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has_material_basis_in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." [DOID:0090113]
subset: ordo_malformation_syndrome {source="Orphanet:420741"}
synonym: "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" RELATED [OMIM:611943]
synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [DOID:0090113, Orphanet:420741]
synonym: "RIDDLE syndrome" EXACT [OMIM:611943]
synonym: "RNF168 deficiency" EXACT [DOID:0090113, Orphanet:420741]
xref: DOID:0090113 {source="MONDO:equivalentTo"}
xref: EFO:0009055 {source="MONDO:equivalentTo"}
xref: ICD10:D82.8 {source="Orphanet:420741", source="DOID:0090113", source="ORDO:420741/attributed", source="ORDO:420741/ntbt"}
xref: MESH:C567453 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611943 {source="ORDO:420741/e", source="Orphanet:420741", source="DOID:0090113", source="MONDO:equivalentTo"}
xref: Orphanet:420741 {source="DOID:0090113", source="MONDO:equivalentTo", source="OMIM:611943"}
xref: UMLS:C2677792 {source="NCBI:mim2gene_medline", source="Orphanet:420741", source="MONDO:equivalentTo", source="OMIM:611943", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015707 {source="Orphanet:420741"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
is_a: MONDO:0020045 {source="EFO:0009055", source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
property_value: exactMatch DOID:0090113
property_value: exactMatch http://identifiers.org/mesh/C567453
property_value: exactMatch http://identifiers.org/omim/611943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677792
property_value: exactMatch Orphanet:420741

[Term]
id: MONDO:0012765
name: lymphedema, hereditary, 1B
synonym: "LMPH1B" EXACT [MONDO:Lexical, OMIM:611944]
synonym: "lymphedema, hereditary, IB" RELATED [MONDO:Lexical, OMIM:611944]
synonym: "lymphedema, hereditary, IB; LMPH1B" RELATED [OMIM:611944]
xref: DOID:0070211 {source="MONDO:equivalentTo"}
xref: MESH:C567452 {source="MONDO:equivalentTo"}
xref: OMIM:611944 {source="MONDO:equivalentTo"}
xref: UMLS:C2677787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611944"}
is_a: MONDO:0019313 {source="MONDOLEX:0012765", source="OMIM:611944", source="ORDO:79452/btnt"} ! hereditary lymphedema
property_value: exactMatch DOID:0070211
property_value: exactMatch http://identifiers.org/mesh/C567452
property_value: exactMatch http://identifiers.org/omim/611944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677787

[Term]
id: MONDO:0012766
name: hereditary spastic paraplegia 37
def: "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." [Orphanet:171612]
subset: ordo_disease {source="Orphanet:171612"}
synonym: "autosomal dominant spastic paraplegia 37" EXACT [DOID:0110788]
synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788]
synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE:2]
synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945]
synonym: "spastic paraplegia 37, autosomal dominant; SPG37" RELATED [OMIM:611945]
synonym: "SPG37" EXACT [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612]
xref: DOID:0110788 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110788", source="ORDO:171612/attributed", source="ORDO:171612/ntbt", source="Orphanet:171612"}
xref: MESH:C567931 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611945 {source="DOID:0110788", source="MONDO:equivalentTo", source="ORDO:171612/e", source="Orphanet:171612"}
xref: Orphanet:171612 {source="DOID:0110788", source="MONDO:equivalentTo", source="OMIM:611945"}
xref: SCTID:763369007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936880 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611945", source="ORDO:171612/e", source="Orphanet:171612"}
is_a: MONDO:0015088 {source="Orphanet:171612"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110788
property_value: exactMatch http://identifiers.org/mesh/C567931
property_value: exactMatch http://identifiers.org/omim/611945
property_value: exactMatch http://identifiers.org/snomedct/763369007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936880
property_value: exactMatch Orphanet:171612

[Term]
id: MONDO:0012767
name: age related macular degeneration 11
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 11" EXACT [DOID:0110023, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CST3" EXACT [MONDO:design_pattern]
synonym: "ARMD11" EXACT [DOID:0110023, MONDO:Lexical, OMIM:611953]
synonym: "CST3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 11" RELATED [MONDO:Lexical, OMIM:611953]
synonym: "macular degeneration, age-related, 11; ARMD11" RELATED [OMIM:611953]
synonym: "macular Degeneration, age-related, type 11" EXACT [MONDORULE:2, OMIM:611953]
xref: DOID:0110023 {source="MONDO:equivalentTo"}
xref: MESH:C567450 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611953 {source="MONDO:equivalentTo", source="DOID:0110023"}
xref: UMLS:C2677774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611953"}
is_a: MONDO:0005150 {source="DC-OMIM:611953", source="DOID:0110023", source="MONDO:Redundant", source="OMIM:611953"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110023
property_value: exactMatch http://identifiers.org/mesh/C567450
property_value: exactMatch http://identifiers.org/omim/611953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677774

[Term]
id: MONDO:0012768
name: HPC11
synonym: "HPC11" EXACT [MONDO:Lexical, OMIM:611955]
synonym: "prostate cancer, hereditary, 11" RELATED [MONDO:Lexical, OMIM:611955]
synonym: "prostate cancer, hereditary, 11; HPC11" RELATED [OMIM:611955]
xref: MESH:C567449 {source="MONDO:equivalentTo"}
xref: OMIM:611955 {source="MONDO:equivalentTo"}
xref: UMLS:C2677773 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611955"}
is_a: MONDO:0023122 {source="MONDOLEX:0012768"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567449
property_value: exactMatch http://identifiers.org/omim/611955
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677773

[Term]
id: MONDO:0012769
name: HPC14
synonym: "HPC14" EXACT [MONDO:Lexical, OMIM:611958]
synonym: "prostate cancer, hereditary, 14" RELATED [MONDO:Lexical, OMIM:611958]
synonym: "prostate cancer, hereditary, 14; HPC14" RELATED [OMIM:611958]
xref: MESH:C567448 {source="MONDO:equivalentTo"}
xref: OMIM:611958 {source="MONDO:equivalentTo"}
xref: UMLS:C2677772 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611958"}
is_a: MONDO:0023122 {source="MONDOLEX:0012769"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567448
property_value: exactMatch http://identifiers.org/omim/611958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677772

[Term]
id: MONDO:0012770
name: HPC15
synonym: "HPC15" EXACT [MONDO:Lexical, OMIM:611959]
synonym: "prostate cancer, hereditary, 15" RELATED [MONDO:Lexical, OMIM:611959]
synonym: "prostate cancer, hereditary, 15; HPC15" RELATED [OMIM:611959]
xref: MESH:C567447 {source="MONDO:equivalentTo"}
xref: OMIM:611959 {source="MONDO:equivalentTo"}
xref: UMLS:C2677771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611959"}
is_a: MONDO:0023122 {source="MONDOLEX:0012770"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/mesh/C567447
property_value: exactMatch http://identifiers.org/omim/611959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677771

[Term]
id: MONDO:0012771
name: asthma-related traits, susceptibility to, 7
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT7" RELATED [MONDO:Lexical, OMIM:611960]
synonym: "asthma-related traits, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:611960]
synonym: "asthma-RELATED traits, susceptibility to, 7; ASRT7" RELATED [OMIM:611960]
synonym: "asthma-related traits, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:611960]
synonym: "CHI3L1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited susceptibility to asthma caused by mutation in CHI3L1" EXACT [MONDO:design_pattern]
xref: OMIM:611960 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0012771"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677770
property_value: exactMatch http://identifiers.org/omim/611960

[Term]
id: MONDO:0012772
name: Stevenson-Carey syndrome
synonym: "Stevenson-Carey syndrome" EXACT [OMIM:611961]
xref: MESH:C567446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611961 {source="MONDO:equivalentTo"}
xref: UMLS:C2677763 {source="OMIM:611961", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567446
property_value: exactMatch http://identifiers.org/omim/611961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677763

[Term]
id: MONDO:0012773
name: Hunter-Macdonald syndrome
synonym: "Hunter-Macdonald syndrome" EXACT [OMIM:611962]
xref: MESH:C567445 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:611962 {source="MONDO:equivalentTo"}
xref: UMLS:C2677745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611962"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567445
property_value: exactMatch http://identifiers.org/omim/611962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677745

[Term]
id: MONDO:0012774
name: chromosome 15q13.3 microdeletion syndrome
def: "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." [Orphanet:199318]
subset: ordo_malformation_syndrome {source="Orphanet:199318"}
synonym: "15q13.3 microdeletion" RELATED [GARD:0010296]
synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394]
synonym: "chromosome 15q13.3 deletion syndrome" RELATED [OMIM:612001]
synonym: "chromosome 15q13.3 microdeletion syndrome" EXACT [OMIM:612001]
synonym: "Del(15)(q13.3)" EXACT [Orphanet:199318]
synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296]
synonym: "monosomy 15q13.3" EXACT [Orphanet:199318]
xref: DOID:0060394 {source="MONDO:equivalentTo"}
xref: GARD:0010296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:199318/attributed", source="ORDO:199318/ntbt", source="Orphanet:199318", source="DOID:0060394"}
xref: MESH:C567439 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060394"}
xref: OMIM:612001 {source="MONDO:equivalentTo", source="Orphanet:199318", source="ORDO:199318/e", source="DOID:0060394"}
xref: Orphanet:199318 {source="OMIM:612001", source="MONDO:equivalentTo", source="DOID:0060394"}
xref: SCTID:699254009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199318", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:612001", source="DOID:0060394"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:199318"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:199318", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016913 {source="Orphanet:199318"} ! partial deletion of the long arm of chromosome 15
is_a: MONDO:0020016 {source="Orphanet:199318"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677613
property_value: exactMatch DOID:0060394
property_value: exactMatch http://identifiers.org/mesh/C567439
property_value: exactMatch http://identifiers.org/omim/612001
property_value: exactMatch http://identifiers.org/snomedct/699254009
property_value: exactMatch Orphanet:199318

[Term]
id: MONDO:0012775
name: thrombocytopenia 4
def: "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CYCS thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THC4" RELATED [MONDO:Lexical, OMIM:612004]
synonym: "thrombocytopenia 4" EXACT [MONDO:Lexical, OMIM:612004]
synonym: "thrombocytopenia 4; THC4" RELATED [OMIM:612004]
synonym: "thrombocytopenia caused by mutation in CYCS" EXACT [MONDO:design_pattern]
synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1, OMIM:612004]
synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [OMIM:612004]
xref: MESH:C567438 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612004 {source="MONDO:equivalentTo"}
xref: UMLS:C2677608 {source="NCBI:mim2gene_medline", source="OMIM:612004", source="MONDO:equivalentTo"}
is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets
property_value: exactMatch http://identifiers.org/mesh/C567438
property_value: exactMatch http://identifiers.org/omim/612004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677608

[Term]
id: MONDO:0012776
name: CELIAC7
subset: predisposition
synonym: "celiac disease, susceptibility to, 7" RELATED [MONDO:Lexical, OMIM:612005]
synonym: "celiac disease, susceptibility to, 7; CELIAC7" RELATED [OMIM:612005]
synonym: "CELIAC7" EXACT [MONDO:Lexical, OMIM:612005]
synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [OMIM:612005]
xref: OMIM:612005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612005", source="OMIM:612005"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677607
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612005

[Term]
id: MONDO:0012777
name: CELIAC8
subset: predisposition
synonym: "celiac disease, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:612006]
synonym: "celiac disease, susceptibility to, 8; CELIAC8" RELATED [OMIM:612006]
synonym: "CELIAC8" EXACT [MONDO:Lexical, OMIM:612006]
synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [OMIM:612006]
xref: OMIM:612006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612006", source="OMIM:612006"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677606
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612006

[Term]
id: MONDO:0012778
name: CELIAC9
subset: predisposition
synonym: "celiac disease, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:612007]
synonym: "celiac disease, susceptibility to, 9; CELIAC9" RELATED [OMIM:612007]
synonym: "CELIAC9" EXACT [MONDO:Lexical, OMIM:612007]
synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [OMIM:612007]
xref: OMIM:612007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612007", source="OMIM:612007"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677605
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612007

[Term]
id: MONDO:0012779
name: CELIAC10
subset: predisposition
synonym: "celiac disease, susceptibility to, 10" RELATED [MONDO:Lexical, OMIM:612008]
synonym: "celiac disease, susceptibility to, 10; CELIAC10" RELATED [OMIM:612008]
synonym: "CELIAC10" EXACT [MONDO:Lexical, OMIM:612008]
synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [OMIM:612008]
xref: OMIM:612008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612008", source="OMIM:612008"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677604
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612008

[Term]
id: MONDO:0012780
name: CELIAC11
subset: predisposition
synonym: "celiac disease, susceptibility to, 11" RELATED [MONDO:Lexical, OMIM:612009]
synonym: "celiac disease, susceptibility to, 11; CELIAC11" RELATED [OMIM:612009]
synonym: "CELIAC11" EXACT [MONDO:Lexical, OMIM:612009]
synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [OMIM:612009]
xref: OMIM:612009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612009", source="OMIM:612009"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677603
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612009

[Term]
id: MONDO:0012781
name: CELIAC12
subset: predisposition
synonym: "celiac disease, susceptibility to, 12" RELATED [MONDO:Lexical, OMIM:612010]
synonym: "celiac disease, susceptibility to, 12; CELIAC12" RELATED [OMIM:612010]
synonym: "CELIAC12" EXACT [MONDO:Lexical, OMIM:612010]
synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [OMIM:612010]
xref: OMIM:612010 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612010", source="OMIM:612010"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677602
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612010

[Term]
id: MONDO:0012782
name: CELIAC13
subset: predisposition
synonym: "celiac disease, susceptibility to, 13" RELATED [MONDO:Lexical, OMIM:612011]
synonym: "celiac disease, susceptibility to, 13; CELIAC13" RELATED [OMIM:612011]
synonym: "CELIAC13" EXACT [MONDO:Lexical, OMIM:612011]
synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [OMIM:612011]
xref: OMIM:612011 {source="MONDO:equivalentTo"}
is_a: MONDO:0005130 {source="DC-OMIM:612011", source="OMIM:612011"} ! celiac disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677601
property_value: closeMatch Orphanet:555
property_value: exactMatch http://identifiers.org/omim/612011

[Term]
id: MONDO:0012783
name: RFT1-CDG
def: "(3p21.1)." [Orphanet:244310]
subset: ordo_disease {source="Orphanet:244310"}
synonym: "carbohydrate deficient glycoprotein syndrome type In" EXACT [Orphanet:244310]
synonym: "CDG in" RELATED [OMIM:612015]
synonym: "CDG syndrome type In" EXACT [Orphanet:244310]
synonym: "CDG-In" EXACT [Orphanet:244310]
synonym: "CDG1N" EXACT [MONDO:Lexical, OMIM:612015, Orphanet:244310]
synonym: "CDGIN" RELATED [GARD:0012394]
synonym: "congenital disorder of glycosylation type 1n" EXACT [Orphanet:244310]
synonym: "congenital disorder of glycosylation type In" EXACT [Orphanet:244310]
synonym: "congenital disorder of glycosylation, type In" RELATED [MONDO:Lexical, OMIM:612015]
synonym: "congenital disorder of glycosylation, type In; CDG1N" RELATED [OMIM:612015]
synonym: "Man5GlcNAc2-PP-Dol flippase deficiency" EXACT [Orphanet:244310]
synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394]
xref: GARD:0012394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:244310", source="ORDO:244310/attributed", source="ORDO:244310/ntbt"}
xref: MESH:C567437 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612015 {source="ORDO:244310/e", source="Orphanet:244310", source="MONDO:equivalentTo"}
xref: Orphanet:244310 {source="OMIM:612015", source="MONDO:equivalentTo"}
xref: SCTID:733084000 {source="MONDO:equivalentTo"}
xref: UMLS:C2677590 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:244310", source="NCBI:mim2gene_medline", source="OMIM:612015", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:612015", source="MONDOLEX:0012783"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:244310"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:244310"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:244310"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:244310"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018295 {source="Orphanet:244310"} ! congenital disorder of glycosylation with deafness as a major feature
property_value: exactMatch http://identifiers.org/mesh/C567437
property_value: exactMatch http://identifiers.org/omim/612015
property_value: exactMatch http://identifiers.org/snomedct/733084000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677590
property_value: exactMatch Orphanet:244310

[Term]
id: MONDO:0012784
name: autosomal recessive ataxia due to ubiquinone deficiency
def: "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy." [Orphanet:139485]
subset: ordo_disease {source="Orphanet:139485"}
synonym: "ARCA2" EXACT [Orphanet:139485]
synonym: "autosomal recessive ataxia due to coenzyme Q10 deficiency" EXACT [Orphanet:139485]
synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [Orphanet:139485]
synonym: "autosomal recessive spinocerebellar ataxia 9" RELATED [GARD:0010294]
synonym: "autosomal recessive spinocerebellar ataxia type 9" EXACT [Orphanet:139485]
synonym: "coenzyme Q10 deficiency, primary, 4" RELATED [MONDO:Lexical, OMIM:612016]
synonym: "coenzyme Q10 deficiency, primary, 4; COQ10D4" RELATED [OMIM:612016]
synonym: "coenzyme Q10 deficiency, primary, type 4" EXACT [MONDORULE:1, OMIM:612016]
synonym: "COQ10D4" RELATED [MONDO:Lexical, OMIM:612016]
synonym: "SCAR9" EXACT [Orphanet:139485]
synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016]
xref: DOID:0070241 {source="MONDO:equivalentTo"}
xref: GARD:0010294 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G11.1 {source="ORDO:139485/attributed", source="ORDO:139485/ntbt", source="Orphanet:139485"}
xref: MESH:C567436 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612016 {source="MONDO:equivalentTo", source="ORDO:139485/e", source="Orphanet:139485"}
xref: Orphanet:139485 {source="OMIM:612016", source="MONDO:equivalentTo"}
xref: SCTID:725394006 {source="MONDO:equivalentTo"}
xref: UMLS:C2677589 {source="OMIM:612016", source="MEDGEN:kboom-pr99-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139485"}
xref: UMLS:C4511089 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:139485"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0018151 {source="DC-OMIM:612016", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency
is_a: MONDO:0020142 ! metabolic disease with dementia
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0070241
property_value: exactMatch http://identifiers.org/mesh/C567436
property_value: exactMatch http://identifiers.org/omim/612016
property_value: exactMatch http://identifiers.org/snomedct/725394006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511089
property_value: exactMatch Orphanet:139485

[Term]
id: MONDO:0012785
name: infantile hypertrophic pyloric stenosis type 3
synonym: "IHPS3" EXACT [MONDO:Lexical, OMIM:612017]
synonym: "pyloric stenosis, infantile hypertrophic, 3" RELATED [MONDO:Lexical, OMIM:612017]
synonym: "pyloric stenosis, infantile hypertrophic, 3; IHPS3" RELATED [OMIM:612017]
xref: MESH:C567435 {source="MONDO:equivalentTo"}
xref: OMIM:612017 {source="MONDO:equivalentTo"}
xref: UMLS:C2677588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612017"}
is_a: MONDO:0001560 {source="DC-OMIM:612017", source="MESH:C567435", source="MONDOLEX:0012785", source="OMIM:612017"} ! hypertrophic pyloric stenosis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567435
property_value: exactMatch http://identifiers.org/omim/612017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677588

[Term]
id: MONDO:0012786
name: juvenile cataract-microcornea-renal glucosuria syndrome
def: "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." [Orphanet:247794]
subset: ordo_disease {source="Orphanet:247794"}
synonym: "cataract 47" RELATED [OMIM:612018]
synonym: "cataract 47; CTRCT47" RELATED [OMIM:612018]
synonym: "cataract, juvenile, with microcornea" RELATED [OMIM:612018]
synonym: "cataract, juvenile, with microcornea and glucosuria" RELATED [MONDO:Lexical, OMIM:612018]
synonym: "cataract, juvenile, with microcornea and glucosuria, formerly" RELATED [OMIM:612018]
synonym: "cataract, juvenile, with microcornea and glucosuria; CJMG" RELATED [OMIM:612018]
synonym: "CJMG" RELATED [MONDO:Lexical, OMIM:612018]
synonym: "CTRCT47" RELATED [OMIM:612018]
xref: MESH:C567434 {source="MONDO:equivalentTo"}
xref: OMIM:612018 {source="MONDO:equivalentTo", source="Orphanet:247794", source="ORDO:247794/e"}
xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"}
xref: SCTID:722457005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C2677587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612018"}
is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate absorption and transport
is_a: MONDO:0019743 {source="Orphanet:247794"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020225 {source="Orphanet:247794"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C567434
property_value: exactMatch http://identifiers.org/omim/612018
property_value: exactMatch http://identifiers.org/snomedct/722457005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677587
property_value: exactMatch Orphanet:247794

[Term]
id: MONDO:0012787
name: hereditary spastic paraplegia 39
def: "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting." [Orphanet:139480]
subset: ordo_disease {source="Orphanet:139480"}
synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790]
synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790]
synonym: "hereditary spastic paraplegia caused by mutation in PNPLA6" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 39" EXACT [DOID:0110790, MONDORULE:2]
synonym: "NTE related motor neuron disorder" RELATED [GARD:0004924]
synonym: "NTE-related motor neuron disorder" EXACT [DOID:0110790]
synonym: "NTE-related motor neuron disorder" RELATED [OMIM:612020]
synonym: "NTEMND" EXACT [DOID:0110790]
synonym: "PNPLA6 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 39" RELATED [GARD:0004924]
synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612020]
synonym: "spastic paraplegia 39, autosomal recessive; SPG39" RELATED [OMIM:612020]
synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [DOID:0110790, Orphanet:139480]
synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet:139480]
synonym: "SPG39" EXACT [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480]
xref: DOID:0110790 {source="MONDO:equivalentTo"}
xref: GARD:0004924 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:139480/attributed", source="ORDO:139480/ntbt", source="Orphanet:139480", source="DOID:0110790"}
xref: MESH:C567433 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="ORDO:139480/e", source="DOID:0110790"}
xref: Orphanet:139480 {source="MONDO:equivalentTo", source="DOID:0110790", source="OMIM:612020"}
xref: SCTID:719103009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2677586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139480", source="MEDGEN:kboom-pr92-c96", source="OMIM:612020"}
xref: UMLS:C4304963 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015089 {source="Orphanet:139480"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018118 {source="Orphanet:139480"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
property_value: exactMatch DOID:0110790
property_value: exactMatch http://identifiers.org/mesh/C567433
property_value: exactMatch http://identifiers.org/omim/612020
property_value: exactMatch http://identifiers.org/snomedct/719103009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304963
property_value: exactMatch Orphanet:139480

[Term]
id: MONDO:0012788
name: CHDS9
subset: predisposition
synonym: "CHDS9" EXACT [MONDO:Lexical, OMIM:612030]
synonym: "coronary heart disease, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:612030]
synonym: "coronary heart disease, susceptibility to, 9; CHDS9" RELATED [OMIM:612030]
xref: OMIM:612030 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005010 {source="MONDOLEX:0012788"} ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677580
property_value: exactMatch http://identifiers.org/omim/612030

[Term]
id: MONDO:0012789
name: dystonia 16
def: "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." [Orphanet:210571]
subset: gard_rare {source="GARD:0010539"}
subset: ordo_disease {source="Orphanet:210571"}
synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067]
synonym: "dystonia 16; DYT16" RELATED [OMIM:612067]
synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2, OMIM:612067, Orphanet:210571]
synonym: "dystonic disorder caused by mutation in PRKRA" EXACT [MONDO:design_pattern]
synonym: "DYT-PRKRA" EXACT [PMID:18243799]
synonym: "DYT16" EXACT [MONDO:Lexical, OMIM:612067, Orphanet:210571]
synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571]
synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539]
xref: DOID:0090048 {source="MONDO:equivalentTo"}
xref: GARD:0010539 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="Orphanet:210571", source="DOID:0090048", source="ORDO:210571/attributed", source="ORDO:210571/ntbt"}
xref: MESH:C567430 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="DOID:0090048", source="ORDO:210571/e"}
xref: Orphanet:210571 {source="OMIM:612067", source="MONDO:equivalentTo", source="DOID:0090048"}
xref: SCTID:722435003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2677567 {source="OMIM:612067", source="Orphanet:210571", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000478 {source="DOID:0090048"} ! multifocal dystonia
is_a: MONDO:0017661 {source="Orphanet:210571"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0018329 {source="Orphanet:210571"} ! persistent combined dystonia
property_value: exactMatch DOID:0090048
property_value: exactMatch http://identifiers.org/mesh/C567430
property_value: exactMatch http://identifiers.org/omim/612067
property_value: exactMatch http://identifiers.org/snomedct/722435003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677567
property_value: exactMatch Orphanet:210571
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 xsd:anyURI {source="GARD:0010539"}

[Term]
id: MONDO:0012790
name: amyotrophic lateral sclerosis type 10
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010497"}
synonym: "ALS10" EXACT [DOID:0060201, MONDO:Lexical, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; ALS10" RELATED [OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [DOID:0060201, OMIM:612069]
synonym: "amyotrophic lateral sclerosis caused by mutation in TARDBP" EXACT [MONDO:design_pattern]
synonym: "frontotemporal dementia with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069]
synonym: "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069]
synonym: "Ftld-TDP, Tardbp-related" RELATED [OMIM:612069]
synonym: "TARDBP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201, OMIM:612069]
xref: DOID:0060201 {source="MONDO:equivalentTo"}
xref: GARD:0010497 {source="MONDO:equivalentTo"}
xref: MESH:C567429 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612069 {source="DOID:0060201", source="MONDO:equivalentTo"}
xref: UMLS:C3502417 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 ! FTDALS
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677565
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3148872
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150169
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150171
property_value: exactMatch DOID:0060201
property_value: exactMatch http://identifiers.org/mesh/C567429
property_value: exactMatch http://identifiers.org/omim/612069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502417
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10 xsd:anyURI {source="GARD:0010497"}

[Term]
id: MONDO:0012791
name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." [Orphanet:1933]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1933"}
synonym: "booth-Haworth-Dilling syndrome" EXACT [Orphanet:1933]
synonym: "encephalomyopathy" RELATED [GARD:0003681]
synonym: "mitochondrial DNA depletion syndrome 5" EXACT [DOID:0080124]
synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:612073]
synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); MTDPS5" RELATED [OMIM:612073]
synonym: "mitochondrial DNA depletion syndrome type 5" EXACT [DOID:0080124, MONDORULE:1]
synonym: "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive" RELATED [GARD:0003681]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related" RELATED [OMIM:612073]
synonym: "mitochondrial encephalomyopathy aminoacidopathy" RELATED [GARD:0003681]
synonym: "mitochondrial encephalomyopathy-aminoacidopathy syndrome" EXACT [Orphanet:1933]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" EXACT [Orphanet:1933]
synonym: "MTDPS5" RELATED [MONDO:Lexical, OMIM:612073]
xref: DOID:0080124 {source="MONDO:equivalentTo"}
xref: GARD:0003681 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:1933/attributed", source="ORDO:1933/ntbt", source="Orphanet:1933"}
xref: MESH:C567624 {source="MONDO:equivalentTo"}
xref: OMIM:612073 {source="MONDO:equivalentTo", source="DOID:0080124", source="ORDO:1933/e", source="Orphanet:1933", source="GARD:0003681"}
xref: Orphanet:1933 {source="MONDO:equivalentTo", source="GARD:0003681", source="OMIM:612073"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0012791"} ! syndromic disease
is_a: MONDO:0016796 {source="MONDOLEX:0012791", source="Orphanet:1933"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749864
property_value: exactMatch DOID:0080124
property_value: exactMatch http://identifiers.org/mesh/C567624
property_value: exactMatch http://identifiers.org/omim/612073
property_value: exactMatch Orphanet:1933
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy xsd:anyURI {source="GARD:0003681"}

[Term]
id: MONDO:0012792
name: mitochondrial DNA depletion syndrome 8a
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:255235"}
synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200]
synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075]
synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A" RELATED [OMIM:612075]
synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [OMIM:612075]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [DOID:0080127, MONDORULE:4]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [Orphanet:255235]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [OMIM:612075]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" RELATED [OMIM:612075]
synonym: "Mngie, Rrm2B-related" RELATED [OMIM:612075]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [Orphanet:255235]
synonym: "MTDPS8A" RELATED [MONDO:Lexical, OMIM:612075]
synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200]
xref: DOID:0080127 {source="MONDO:equivalentTo"}
xref: GARD:0013200 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="Orphanet:255235", source="ORDO:255235/attributed", source="ORDO:255235/ntbt"}
xref: OMIM:612075 {source="ORDO:255235/e", source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127"}
xref: Orphanet:255235 {source="MONDO:equivalentTo", source="OMIM:612075"}
xref: SCTID:765100000 {source="MONDO:equivalentTo"}
is_a: MONDO:0016796 {source="MONDOLEX:0012792", source="Orphanet:255235"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749861
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749862
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150172
property_value: exactMatch DOID:0080127
property_value: exactMatch http://identifiers.org/omim/612075
property_value: exactMatch http://identifiers.org/snomedct/765100000
property_value: exactMatch Orphanet:255235

[Term]
id: MONDO:0012793
name: hypouricemia, renal, 2
synonym: "gout susceptibility 2" RELATED [OMIM:612076]
synonym: "hypouricemia, renal, 2" EXACT [MONDO:Lexical, OMIM:612076]
synonym: "hypouricemia, renal, 2; RHUC2" RELATED [OMIM:612076]
synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1, OMIM:612076]
synonym: "RHUC2" RELATED [MONDO:Lexical, OMIM:612076]
synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [OMIM:612076]
xref: MESH:C567426 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612076 {source="MONDO:equivalentTo"}
xref: UMLS:C2677549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612076"}
is_a: MONDO:0009071 {source="MONDO:Redundant", source="ORDO:94088/btnt"} ! hereditary renal hypouricemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677550
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677551
property_value: exactMatch http://identifiers.org/mesh/C567426
property_value: exactMatch http://identifiers.org/omim/612076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677549

[Term]
id: MONDO:0012794
name: ANE syndrome
def: "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." [Orphanet:157954]
subset: ordo_disease {source="Orphanet:157954"}
synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical, OMIM:612079]
synonym: "alopecia, neurologic defects, and endocrinopathy syndrome; anes" RELATED [OMIM:612079]
synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [Orphanet:157954]
synonym: "ANE syndrome" EXACT [OMIM:612079]
synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079]
xref: MESH:C567425 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="ORDO:157954/e"}
xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"}
xref: UMLS:C2677535 {source="OMIM:612079", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157954", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:157954"} ! syndromic intellectual disability
is_a: MONDO:0015890 {source="Orphanet:157954"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019827 {source="Orphanet:157954"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:157954"} ! genetic alopecia
property_value: exactMatch http://identifiers.org/mesh/C567425
property_value: exactMatch http://identifiers.org/omim/612079
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677535
property_value: exactMatch Orphanet:157954

[Term]
id: MONDO:0012795
name: hypophosphatemic rickets and hyperparathyroidism
synonym: "hypophosphatemic rickets and hyperparathyroidism" EXACT [OMIM:612089]
xref: MESH:C567423 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612089 {source="MONDO:equivalentTo"}
xref: UMLS:C2677524 {source="OMIM:612089", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567423
property_value: exactMatch http://identifiers.org/omim/612089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677524

[Term]
id: MONDO:0012796
name: retinitis pigmentosa 41
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010379"}
synonym: "PROM1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal Degeneration, autosomal recessive, prominin-related" RELATED [OMIM:612095]
synonym: "retinitis pigmentosa 41" EXACT [MONDO:Lexical, OMIM:612095]
synonym: "retinitis pigmentosa 41; RP41" RELATED [OMIM:612095]
synonym: "retinitis pigmentosa caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 41" EXACT [DOID:0110376, MONDORULE:2, OMIM:612095]
synonym: "RP 41" RELATED [GARD:0010379]
synonym: "RP41" EXACT [DOID:0110376, MONDO:Lexical, OMIM:612095]
xref: DOID:0110376 {source="MONDO:equivalentTo"}
xref: GARD:0010379 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110376"}
xref: MESH:C567422 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612095 {source="MONDO:equivalentTo", source="DOID:0110376"}
xref: UMLS:C2677516 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612095"}
is_a: MONDO:0019200 {source="DC-OMIM:612095", source="DOID:0110376", source="MESH:C567422", source="MONDO:Redundant", source="OMIM:612095"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110376
property_value: exactMatch http://identifiers.org/mesh/C567422
property_value: exactMatch http://identifiers.org/omim/612095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677516
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41 xsd:anyURI {source="GARD:0010379"}

[Term]
id: MONDO:0012797
name: OTSC8
synonym: "otosclerosis 8" RELATED [MONDO:Lexical, OMIM:612096]
synonym: "otosclerosis 8; OTSC8" RELATED [OMIM:612096]
synonym: "OTSC8" EXACT [MONDO:Lexical, OMIM:612096]
xref: MESH:C567421 {source="MONDO:equivalentTo"}
xref: OMIM:612096 {source="MONDO:equivalentTo"}
xref: UMLS:C2677515 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612096"}
is_a: MONDO:0005349 {source="DC-OMIM:612096", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/mesh/C567421
property_value: exactMatch http://identifiers.org/omim/612096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677515

[Term]
id: MONDO:0012798
name: deafness, unilateral, with delayed endolymphatic hydrops
synonym: "deafness, unilateral, with delayed endolymphatic hydrops" EXACT [OMIM:612097]
xref: MESH:C567420 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612097 {source="MONDO:equivalentTo"}
xref: UMLS:C2677512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612097"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567420
property_value: exactMatch http://identifiers.org/omim/612097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677512

[Term]
id: MONDO:0012799
name: hypertrophic cardiomyopathy 11
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 11" EXACT [DOID:0110317]
synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical, OMIM:612098]
synonym: "cardiomyopathy, familial hypertrophic, 11; CMH11" RELATED [OMIM:612098]
synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2, OMIM:612098]
synonym: "CMH11" EXACT [DOID:0110317, MONDO:Lexical, OMIM:612098]
synonym: "hypertrophic cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 11" EXACT [DOID:0110317, MONDORULE:2]
xref: DOID:0110317 {source="MONDO:equivalentTo"}
xref: MESH:C567419 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612098 {source="DOID:0110317", source="MONDO:equivalentTo"}
xref: UMLS:C2677506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612098"}
is_a: MONDO:0024573 {source="MESH:C567419", source="MONDOLEX:0012799", source="OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110317
property_value: exactMatch http://identifiers.org/mesh/C567419
property_value: exactMatch http://identifiers.org/omim/612098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677506

[Term]
id: MONDO:0012800
name: trichoepithelioma, multiple familial, 2
subset: gard_rare {source="GARD:0010373"}
synonym: "Mft2" RELATED [OMIM:612099]
synonym: "multiple familial trichoepithelioma 2" RELATED [GARD:0010373]
synonym: "trichoepithelioma multiple familial 2" RELATED [GARD:0010373]
synonym: "trichoepithelioma, multiple familial, 2" EXACT [OMIM:612099]
synonym: "trichoepithelioma, multiple familial, type 2" EXACT [MONDORULE:1, OMIM:612099]
xref: GARD:0010373 {source="MONDO:equivalentTo"}
xref: MESH:C567418 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612099 {source="MONDO:equivalentTo"}
xref: UMLS:C2677505 {source="OMIM:612099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011114 {source="ORDO:867/btnt"} ! familial multiple trichoepithelioma
property_value: exactMatch http://identifiers.org/mesh/C567418
property_value: exactMatch http://identifiers.org/omim/612099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677505
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 xsd:anyURI {source="GARD:0010373"}

[Term]
id: MONDO:0012801
name: autism, susceptibility to, 15
subset: predisposition
synonym: "autism, susceptibility to, 15" EXACT [MONDO:Lexical, OMIM:612100]
synonym: "autism, susceptibility to, 15; AUTS15" RELATED [OMIM:612100]
synonym: "autism, susceptibility to, type 15" EXACT [MONDORULE:2, OMIM:612100]
synonym: "AUTS15" RELATED [MONDO:Lexical, OMIM:612100]
synonym: "susceptibility to autism 15" RELATED [OMIM:612100]
xref: OMIM:612100 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677504
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/612100

[Term]
id: MONDO:0012802
name: oculoauricular syndrome
def: "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." [Orphanet:157962]
subset: ordo_malformation_syndrome {source="Orphanet:157962"}
synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [OMIM:612109]
synonym: "OCACS" RELATED [MONDO:Lexical, OMIM:612109]
synonym: "oculoauricular syndrome" EXACT [MONDO:Lexical, OMIM:612109]
synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962]
synonym: "oculoauricular syndrome; OCACS" RELATED [OMIM:612109]
synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109]
xref: DOID:0060482 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:157962", source="ORDO:157962/attributed", source="ORDO:157962/ntbt", source="DOID:0060482"}
xref: MESH:C567416 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060482"}
xref: OMIM:612109 {source="ORDO:157962/e", source="Orphanet:157962", source="MONDO:equivalentTo", source="DOID:0060482"}
xref: Orphanet:157962 {source="MONDO:equivalentTo", source="OMIM:612109", source="DOID:0060482"}
xref: UMLS:C2677500 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612109"}
is_a: MONDO:0016073 {source="Orphanet:157962"} ! syndromic microphthalmia
property_value: exactMatch DOID:0060482
property_value: exactMatch http://identifiers.org/mesh/C567416
property_value: exactMatch http://identifiers.org/omim/612109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677500
property_value: exactMatch Orphanet:157962

[Term]
id: MONDO:0012803
name: diarrhea-vomiting due to trehalase deficiency
def: "This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." [Orphanet:103909]
subset: ordo_disease {source="Orphanet:103909"}
synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909]
synonym: "trehalase deficiency" RELATED [OMIM:612119]
synonym: "trehalose intolerance" RELATED [OMIM:612119]
xref: GARD:0010372 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E74.3 {source="Orphanet:103909", source="ORDO:103909/attributed", source="ORDO:103909/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562603 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612119 {source="Orphanet:103909", source="MONDO:equivalentTo", source="ORDO:103909/e"}
xref: Orphanet:103909 {source="MONDO:equivalentTo", source="OMIM:612119"}
xref: SCTID:84193000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.60"}
xref: UMLS:C0268187 {source="Orphanet:103909", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612119"}
is_a: MONDO:0015181 {source="Orphanet:103909"} ! congenital intestinal disease due to an enzymatic defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017706 {source="Orphanet:103909"} ! disorder of carbohydrate absorption and transport
property_value: exactMatch http://identifiers.org/mesh/C562603
property_value: exactMatch http://identifiers.org/omim/612119
property_value: exactMatch http://identifiers.org/snomedct/84193000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268187
property_value: exactMatch Orphanet:103909

[Term]
id: MONDO:0012804
name: hypertrophic cardiomyopathy 12
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 12" EXACT [DOID:0110318]
synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical, OMIM:612124]
synonym: "cardiomyopathy, familial hypertrophic, 12; CMH12" RELATED [OMIM:612124]
synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2, OMIM:612124]
synonym: "CMH12" EXACT [DOID:0110318, MONDO:Lexical, OMIM:612124]
synonym: "CSRP3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 12" EXACT [DOID:0110318, MONDORULE:2]
xref: DOID:0110318 {source="MONDO:equivalentTo"}
xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"}
xref: UMLS:C2677491 {source="OMIM:612124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0012804", source="OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110318
property_value: exactMatch http://identifiers.org/omim/612124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677491

[Term]
id: MONDO:0012805
name: childhood onset GLUT1 deficiency syndrome 2
def: "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." [Orphanet:98811]
subset: ordo_disease {source="Orphanet:98811"}
synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [DOID:0090045, MONDORULE:1]
synonym: "dystonia 18" EXACT [OMIM:612126, Orphanet:98811]
synonym: "DYT-SLC2A1" RELATED [GARD:0010541]
synonym: "DYT18" EXACT [Orphanet:98811]
synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical, OMIM:612126]
synonym: "GLUT1 deficiency syndrome 2; GLUT1DS2" RELATED [OMIM:612126]
synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612126]
synonym: "GLUT1DS2" RELATED [MONDO:Lexical, OMIM:612126]
synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "paroxysmal exercise-induced dystonia" EXACT [PMID:26598494]
synonym: "paroxysmal exertion-induced dyskinesia" RELATED [Orphanet:98811]
synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "ped" EXACT [Orphanet:98811]
synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0090045 {source="MONDO:equivalentTo"}
xref: GARD:0010541 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.8 {source="DOID:0090045", source="Orphanet:98811", source="ORDO:98811/attributed", source="ORDO:98811/ntbt"}
xref: MESH:C564288 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612126 {source="ORDO:98811/e", source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo"}
xref: Orphanet:98811 {source="DOID:0090045", source="OMIM:612126", source="MONDO:equivalentTo"}
xref: SCTID:724072002 {source="MONDO:equivalentTo"}
xref: UMLS:C1842534 {source="MEDGEN:kboom-pr98-c99", source="OMIM:612126", source="Orphanet:98811", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000188 {source="DC-OMIM:612126", source="OMIM:612126"} ! GLUT1 deficiency syndrome
is_a: MONDO:0015427 {source="Orphanet:98811"} ! paroxysmal dyskinesia
property_value: exactMatch DOID:0090045
property_value: exactMatch http://identifiers.org/mesh/C564288
property_value: exactMatch http://identifiers.org/omim/612126
property_value: exactMatch http://identifiers.org/snomedct/724072002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842534
property_value: exactMatch Orphanet:98811

[Term]
id: MONDO:0012806
name: ectodermal dysplasia and immunodeficiency 2
synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [OMIM:612132]
synonym: "EPAID2" EXACT [OMIM:612132]
xref: MESH:C567411 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612132 {source="MONDO:equivalentTo"}
xref: UMLS:C2677481 {source="OMIM:612132", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010293 {source="ORDO:98813/btnt"} ! hypohidrotic ectodermal dysplasia with immunodeficiency
property_value: exactMatch http://identifiers.org/mesh/C567411
property_value: exactMatch http://identifiers.org/omim/612132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677481

[Term]
id: MONDO:0012807
name: epidermolysis bullosa simplex with pyloric atresia
def: "Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." [Orphanet:158684]
subset: ordo_disease {source="Orphanet:158684"}
synonym: "EBS with pyloric atresia" RELATED [OMIM:612138]
synonym: "EBS-PA" EXACT [Orphanet:158684]
synonym: "EBSPA" RELATED [MONDO:Lexical, OMIM:612138]
synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138]
synonym: "epidermolysis bullosa simplex with pyloric atresia; EBSPA" RELATED [OMIM:612138]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158684", source="ORDO:158684/attributed", source="ORDO:158684/ntbt"}
xref: MESH:C567408 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="ORDO:158684/e"}
xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"}
xref: SCTID:716701004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2677349 {source="Orphanet:158684", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612138"}
is_a: MONDO:0015551 {source="Orphanet:158684"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/mesh/C567408
property_value: exactMatch http://identifiers.org/omim/612138
property_value: exactMatch http://identifiers.org/snomedct/716701004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677349
property_value: exactMatch Orphanet:158684

[Term]
id: MONDO:0012808
name: dilated cardiomyopathy 1AA
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:612158]
synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction; CMD1AA" RELATED [OMIM:612158]
synonym: "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" RELATED [OMIM:612158]
synonym: "CMD1AA" EXACT [DOID:0110428, MONDO:Lexical, OMIM:612158]
synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" EXACT [DOID:0110428]
synonym: "dilated cardiomyopathy type 1AA" EXACT [DOID:0110428, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" EXACT [MONDO:design_pattern]
xref: DOID:0110428 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110428"}
xref: MESH:C567407 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612158 {source="DOID:0110428", source="MONDO:equivalentTo"}
xref: UMLS:C2677338 {source="NCBI:mim2gene_medline", source="OMIM:612158", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110428
property_value: exactMatch http://identifiers.org/mesh/C567407
property_value: exactMatch http://identifiers.org/omim/612158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677338

[Term]
id: MONDO:0012809
name: histiocytoma, Angiomatoid fibrous
def: "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." [NCIT:P378]
synonym: "AFH" EXACT [NCIT:C6494]
synonym: "angiomatoid fibrous histiocytoma" EXACT [NCIT:C6494]
synonym: "angiomatoid malignant fibrous histiocytoma" EXACT [NCIT:C6494]
synonym: "histiocytoma, Angiomatoid fibrous" EXACT [OMIM:612160]
xref: ICDO:8836/1 {source="NCIT:C6494"}
xref: MESH:C563181 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6494 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:612160 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AFH {source="MONDO:equivalentTo"}
xref: UMLS:C1266127 {source="NCIT:C6494", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612160"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005509 {source="MESH:C563181/inferred"} ! histiocytoma
property_value: exactMatch http://identifiers.org/mesh/C563181
property_value: exactMatch http://identifiers.org/omim/612160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266127
property_value: exactMatch NCIT:C6494

[Term]
id: MONDO:0012810
name: ANIB7
synonym: "aneurysm, intracranial BERRY, 7" RELATED [MONDO:Lexical, OMIM:612161]
synonym: "aneurysm, intracranial BERRY, 7; ANIB7" RELATED [OMIM:612161]
synonym: "ANIB7" EXACT [MONDO:Lexical, OMIM:612161]
xref: MESH:C567406 {source="MONDO:equivalentTo"}
xref: OMIM:612161 {source="MONDO:equivalentTo"}
xref: UMLS:C2677337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612161"}
is_a: MONDO:0016483 {source="DC-OMIM:612161", source="OMIM:612161"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567406
property_value: exactMatch http://identifiers.org/omim/612161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677337

[Term]
id: MONDO:0012811
name: ANIB8
synonym: "aneurysm, intracranial BERRY, 8" RELATED [MONDO:Lexical, OMIM:612162]
synonym: "aneurysm, intracranial BERRY, 8; ANIB8" RELATED [OMIM:612162]
synonym: "ANIB8" EXACT [MONDO:Lexical, OMIM:612162]
xref: MESH:C567405 {source="MONDO:equivalentTo"}
xref: OMIM:612162 {source="MONDO:equivalentTo"}
xref: UMLS:C2677336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612162"}
is_a: MONDO:0016483 {source="DC-OMIM:612162", source="OMIM:612162"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567405
property_value: exactMatch http://identifiers.org/omim/612162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677336

[Term]
id: MONDO:0012812
name: epileptic encephalopathy, early infantile, 4
def: "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy , which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures , although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia . EIEE4 is caused by changes ( mutations ) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." [https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4]
subset: gard_rare {source="GARD:0012900"}
synonym: "early infantile epileptic encephalopathy 4" RELATED [GARD:0012900]
synonym: "early infantile epileptic encephalopathy caused by mutation in STXBP1" EXACT [MONDO:design_pattern]
synonym: "EIEE4" RELATED [MONDO:Lexical, OMIM:612164]
synonym: "epileptic encephalopathy, early infantile, 4" EXACT [MONDO:Lexical, OMIM:612164]
synonym: "epileptic encephalopathy, early infantile, 4; EIEE4" RELATED [OMIM:612164]
synonym: "epileptic encephalopathy, early infantile, type 4" EXACT [MONDORULE:1, OMIM:612164]
synonym: "STXBP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STXBP1-related early-onset encephalopathy" RELATED [GARD:0012900]
xref: GARD:0012900 {source="MONDO:equivalentTo"}
xref: MESH:C567404 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612164 {source="MONDO:equivalentTo"}
xref: SCTID:768666006 {source="MONDO:equivalentTo"}
xref: UMLS:C2677326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612164"}
is_a: MONDO:0016021 {source="MONDO:Redundant", source="OMIM:612164", source="indirect"} ! early infantile epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome
property_value: exactMatch http://identifiers.org/mesh/C567404
property_value: exactMatch http://identifiers.org/omim/612164
property_value: exactMatch http://identifiers.org/snomedct/768666006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677326
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 xsd:anyURI {source="GARD:0012900"}

[Term]
id: MONDO:0012813
name: retinitis pigmentosa 29
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34." [DOID:0110378, PMID:11381043]
subset: gard_rare {source="GARD:0010378"}
synonym: "retinitis pigmentosa 29" EXACT [MONDO:Lexical, OMIM:612165]
synonym: "retinitis pigmentosa 29; RP29" RELATED [OMIM:612165]
synonym: "retinitis pigmentosa type 29" EXACT [DOID:0110378, MONDORULE:2]
synonym: "RP 29" RELATED [GARD:0010378]
synonym: "RP29" EXACT [DOID:0110378, MONDO:Lexical, OMIM:612165]
xref: DOID:0110378 {source="MONDO:equivalentTo"}
xref: GARD:0010378 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110378"}
xref: MESH:C567403 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612165 {source="MONDO:equivalentTo", source="DOID:0110378"}
xref: UMLS:C2677325 {source="OMIM:612165", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:612165", source="DOID:0110378", source="MESH:C567403", source="OMIM:612165"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110378
property_value: exactMatch http://identifiers.org/mesh/C567403
property_value: exactMatch http://identifiers.org/omim/612165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677325
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 xsd:anyURI {source="GARD:0010378"}

[Term]
id: MONDO:0012814
name: diastasis recti and weakness of the linea alba
synonym: "diastasis recti and weakness of the linea alba" EXACT [OMIM:612198]
xref: MESH:C567402 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612198 {source="MONDO:equivalentTo"}
xref: UMLS:C2677303 {source="OMIM:612198", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567402
property_value: exactMatch http://identifiers.org/omim/612198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677303

[Term]
id: MONDO:0012815
name: Coats plus syndrome
def: "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." [Orphanet:313838]
subset: ordo_disease {source="Orphanet:313838"}
synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199]
synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838]
synonym: "CRMCC" EXACT [Orphanet:313838]
synonym: "CRMCC" RELATED [MONDO:Lexical, OMIM:612199]
xref: ICD10:H35.0 {source="ORDO:313838/attributed", source="ORDO:313838/ntbt", source="Orphanet:313838"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567401 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:612199 {source="MONDO:equivalentTo"}
xref: Orphanet:313838 {source="OMIM:612199", source="MONDO:equivalentTo"}
xref: SCTID:711482008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN282828 {source="MONDO:equivalentTo"}
is_a: MONDO:0018787 {source="Orphanet:313838"} ! genetic cerebral small vessel disease
is_a: MONDO:0020247 {source="Orphanet:313838"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: exactMatch http://identifiers.org/mesh/C567401
property_value: exactMatch http://identifiers.org/snomedct/711482008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN282828
property_value: exactMatch Orphanet:313838

[Term]
id: MONDO:0012816
name: atrial fibrillation, familial, 6
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB6" RELATED [MONDO:Lexical, OMIM:612201]
synonym: "atrial fibrillation, familial, 6" EXACT [MONDO:Lexical, OMIM:612201]
synonym: "atrial fibrillation, familial, 6; ATFB6" RELATED [OMIM:612201]
synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1, OMIM:612201]
synonym: "familial atrial fibrillation caused by mutation in NPPA" EXACT [MONDO:design_pattern]
synonym: "NPPA familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567400 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612201 {source="MONDO:equivalentTo"}
xref: UMLS:C2677294 {source="OMIM:612201", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:612201", source="MONDO:Redundant", source="MONDOLEX:0012816", source="OMIM:612201"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C567400
property_value: exactMatch http://identifiers.org/omim/612201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677294

[Term]
id: MONDO:0012817
name: Ewing sarcoma
def: "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C4817]
subset: ordo_disease {source="Orphanet:319"}
synonym: "ES" EXACT [NCIT:C4817]
synonym: "ES" RELATED [MONDO:Lexical, OMIM:612219]
synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219]
synonym: "Ewing sarcoma; ES" RELATED [OMIM:612219]
synonym: "Ewing tumor" RELATED [GARD:0006390]
synonym: "Ewing's family localized tumor" EXACT [DOID:3369]
synonym: "Ewing's sarcoma" EXACT [NCIT:C4817]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT EXCLUDE [DOID:3369]
synonym: "Ewing's tumor" EXACT [NCIT:C4817]
synonym: "Ewings sarcoma" EXACT [DOID:3369]
synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "localized Ewing sarcoma" RELATED [DOID:3369]
synonym: "localized Ewing's sarcoma" RELATED [DOID:3369]
synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "localized Ewing's tumor" RELATED [DOID:3369]
synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219]
synonym: "peripheral primitive neuroectodermal tumor" EXACT EXCLUDE [DOID:3369]
synonym: "PNET of Thoracopulmonary region" EXACT [DOID:3369]
synonym: "sarcoma, Ewing's" RELATED [GARD:0006390]
xref: DOID:3369 {source="MONDO:equivalentTo"}
xref: EFO:0000174 {source="MONDO:equivalentTo"}
xref: GARD:0006390 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C40.0 {source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C40.1 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C40.2 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C40.3 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C41.2 {source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C41.3 {source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICD10:C41.4 {source="ORDO:319/ntbt", source="Orphanet:319"}
xref: ICDO:9260/3 {source="NCIT:C4817"}
xref: MedDRA:10015560 {source="ORDO:319/e", source="Orphanet:319"}
xref: MESH:D012512 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"}
xref: NCIT:C4817 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"}
xref: OMIM:612219 {source="EFO:0000174", source="ORDO:319/e", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369"}
xref: ONCOTREE:ES {source="MONDO:equivalentTo"}
xref: Orphanet:319 {source="MONDO:equivalentTo", source="OMIM:612219"}
xref: UMLS:C0553580 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4817", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="OMIM:612219"}
is_a: MONDO:0005089 {source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma
is_a: MONDO:0021038 {source="NCIT:C4817"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://identifiers.org/mesh/C563168
property_value: closeMatch http://identifiers.org/snomedct/128783001
property_value: closeMatch http://identifiers.org/snomedct/134210007
property_value: closeMatch http://identifiers.org/snomedct/253096008
property_value: closeMatch http://identifiers.org/snomedct/703707001
property_value: closeMatch http://identifiers.org/snomedct/73506006
property_value: closeMatch http://identifiers.org/snomedct/73676002
property_value: closeMatch http://identifiers.org/snomedct/76909002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796547
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0863029
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334408
property_value: closeMatch NCIT:C27901
property_value: closeMatch NCIT:C27903
property_value: closeMatch NCIT:C7806
property_value: exactMatch DOID:3369
property_value: exactMatch http://identifiers.org/meddra/10015560
property_value: exactMatch http://identifiers.org/mesh/D012512
property_value: exactMatch http://identifiers.org/omim/612219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553580
property_value: exactMatch NCIT:C4817
property_value: exactMatch Orphanet:319

[Term]
id: MONDO:0012818
name: maturity-onset diabetes of the young type 9
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010663"}
synonym: "diabetes mellitus MODY type 9" RELATED [GARD:0010663]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PAX4" EXACT []
synonym: "maturity-onset diabetes of the young, type 9" RELATED [MONDO:Lexical, OMIM:612225]
synonym: "maturity-onset diabetes of the young, type 9; MODY9" RELATED [OMIM:612225]
synonym: "MODY PAX4 related" RELATED [GARD:0010663]
synonym: "MODY type 9" RELATED [GARD:0010663]
synonym: "MODY9" EXACT [DOID:0111107, MONDO:Lexical, OMIM:612225]
synonym: "PAX4 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "type 9 maturity-onset diabetes of the young" RELATED [GARD:0010663]
xref: DOID:0111107 {source="MONDO:equivalentTo"}
xref: GARD:0010663 {source="MONDO:equivalentTo"}
xref: MESH:C567393 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612225 {source="DOID:0111107", source="MONDO:equivalentTo"}
xref: SCTID:609576002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C2677132 {source="MEDGEN:kboom-pr98-c99", source="OMIM:612225", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:612225", source="DOID:0111107", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111107
property_value: exactMatch http://identifiers.org/mesh/C567393
property_value: exactMatch http://identifiers.org/omim/612225
property_value: exactMatch http://identifiers.org/snomedct/609576002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677132
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9 xsd:anyURI {source="GARD:0010663"}

[Term]
id: MONDO:0012819
name: diabetic ketoacidosis
def: "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." [NCIT:P378]
synonym: "diabetes mellitus, ketosis-prone" EXACT [DOID:1837, MONDO:Lexical, OMIM:612227]
synonym: "diabetes mellitus, ketosis-prone; KPD" RELATED [OMIM:612227]
synonym: "ketosis-prone diabetes mellitus" EXACT [DOID:1837]
synonym: "KPD" RELATED [MONDO:Lexical, OMIM:612227]
xref: COHD:443727 {source="MONDO:equivalentTo"}
xref: DOID:1837 {source="MONDO:equivalentTo", source="EFO:1000897"}
xref: EFO:1000897 {source="MONDO:equivalentTo"}
xref: ICD9:250.1 {source="DOID:1837"}
xref: ICD9:250.10 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10012671 {source="EFO:1000897"}
xref: MESH:D016883 {source="MONDO:equivalentTo", source="EFO:1000897", source="DOID:1837"}
xref: OMIM:612227 {source="MONDO:equivalentTo", source="DOID:1837"}
xref: SCTID:420422005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000897", source="DOID:1837"}
xref: UMLS:C0011880 {source="MONDO:equivalentTo", source="DOID:1837"}
is_a: MONDO:0005148 {source="DOID:1837"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://identifiers.org/meddra/10012671
property_value: closeMatch http://identifiers.org/snomedct/154671004
property_value: closeMatch http://identifiers.org/snomedct/190328004
property_value: closeMatch http://identifiers.org/snomedct/24927004
property_value: closeMatch http://identifiers.org/snomedct/267467004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011854
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0743110
property_value: exactMatch DOID:1837
property_value: exactMatch http://identifiers.org/mesh/D016883
property_value: exactMatch http://identifiers.org/omim/612227
property_value: exactMatch http://identifiers.org/snomedct/420422005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011880
property_value: exactMatch NCIT:C50530

[Term]
id: MONDO:0012820
name: colorectal cancer, susceptibility to, 3
def: "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "colorectal cancer caused by mutation in SMAD7" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612229]
synonym: "colorectal cancer, susceptibility to, 3; CRCS3" RELATED [OMIM:612229]
synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [OMIM:612229]
synonym: "colorectal cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612229]
synonym: "CRCS3" RELATED [MONDO:Lexical, OMIM:612229]
synonym: "SMAD7 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 3" RELATED [OMIM:612229]
xref: OMIM:612229 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677123
property_value: exactMatch http://identifiers.org/omim/612229

[Term]
id: MONDO:0012821
name: CRCS5
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612230]
synonym: "colorectal cancer, susceptibility to, 5; CRCS5" RELATED [OMIM:612230]
synonym: "colorectal cancer, susceptibility to, on chromosome 10" RELATED [OMIM:612230]
synonym: "CRCS5" EXACT [MONDO:Lexical, OMIM:612230]
xref: OMIM:612230 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612230", source="MONDOLEX:0012821"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677122
property_value: exactMatch http://identifiers.org/omim/612230

[Term]
id: MONDO:0012822
name: CRCS6
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612231]
synonym: "colorectal cancer, susceptibility to, 6; CRCS6" RELATED [OMIM:612231]
synonym: "colorectal cancer, susceptibility to, on chromosome 8Q23" RELATED [OMIM:612231]
synonym: "CRCS6" EXACT [MONDO:Lexical, OMIM:612231]
xref: OMIM:612231 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612231", source="MONDOLEX:0012822"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677121
property_value: exactMatch http://identifiers.org/omim/612231

[Term]
id: MONDO:0012823
name: CRCS7
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 7" RELATED [MONDO:Lexical, OMIM:612232]
synonym: "colorectal cancer, susceptibility to, 7; CRCS7" RELATED [OMIM:612232]
synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED [OMIM:612232]
synonym: "CRCS7" EXACT [MONDO:Lexical, OMIM:612232]
xref: OMIM:612232 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612232", source="MONDOLEX:0012823"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677120
property_value: exactMatch http://identifiers.org/omim/612232

[Term]
id: MONDO:0012824
name: hypomyelinating leukodystrophy 4
def: "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:280288"}
synonym: "HLD4" EXACT [DOID:0060789, MONDO:Lexical, OMIM:612233]
synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypomyelinating leukodystrophy type 4" EXACT [DOID:0060789, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in HSPD1" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical, OMIM:612233]
synonym: "leukodystrophy, hypomyelinating, 4; HLD4" RELATED [OMIM:612233]
synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1, OMIM:612233]
synonym: "MitCHAP60 disease" EXACT [DOID:0060789]
synonym: "Mitchap60 disease" RELATED [OMIM:612233]
synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:280288]
synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233]
synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789]
xref: DOID:0060789 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:280288/attributed", source="ORDO:280288/ntbt", source="DOID:0060789", source="Orphanet:280288"}
xref: MESH:C567390 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612233 {source="MONDO:equivalentTo", source="DOID:0060789", source="ORDO:280288/e", source="Orphanet:280288"}
xref: Orphanet:280288 {source="OMIM:612233", source="MONDO:equivalentTo", source="DOID:0060789"}
xref: UMLS:C2677109 {source="OMIM:612233", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017226 {source="Orphanet:280288"} ! Pelizaeus-Merzbacher-like disease
property_value: exactMatch DOID:0060789
property_value: exactMatch http://identifiers.org/mesh/C567390
property_value: exactMatch http://identifiers.org/omim/612233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677109
property_value: exactMatch Orphanet:280288

[Term]
id: MONDO:0012825
name: extraskeletal myxoid chondrosarcoma
def: "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." [NCIT:P378]
subset: ordo_disease {source="Orphanet:209916"}
synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [OMIM:612237]
synonym: "EMC" RELATED [OMIM:612237]
synonym: "extraosseous chondrosarcoma" EXACT [NCIT:C27502]
synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502]
synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502]
synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502]
xref: DOID:6496 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="Orphanet:209916", source="ORDO:209916/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563195 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:6496"}
xref: NCIT:C27502 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.84", source="DOID:6496"}
xref: OMIM:612237 {source="Orphanet:209916", source="ORDO:209916/e", source="MONDO:equivalentTo", source="DOID:6496"}
xref: ONCOTREE:EMCHS {source="MONDO:equivalentTo"}
xref: Orphanet:209916 {source="MONDO:equivalentTo", source="OMIM:612237"}
xref: SCTID:404079008 {source="MONDO:equivalentTo", source="DOID:6496", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1275278 {source="Orphanet:209916", source="NCBI:mim2gene_medline", source="ORDO:209916/e", source="MONDO:equivalentTo", source="OMIM:612237", source="NCIT:C27502", source="DOID:6496"}
is_a: MONDO:0003044 {source="DOID:6496", source="MONDOLEX:0012825"} ! extraosseous chondrosarcoma
is_a: MONDO:0018078 {source="NCIT:C27502", source="Orphanet:209916"} ! soft tissue sarcoma
property_value: exactMatch DOID:6496
property_value: exactMatch http://identifiers.org/mesh/C563195
property_value: exactMatch http://identifiers.org/omim/612237
property_value: exactMatch http://identifiers.org/snomedct/404079008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275278
property_value: exactMatch NCIT:C27502
property_value: exactMatch Orphanet:209916

[Term]
id: MONDO:0012826
name: scoliosis, isolated, susceptibility to, 4
subset: predisposition
synonym: "IS4" EXACT [MONDO:Lexical, OMIM:612238]
synonym: "scoliosis, isolated, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612238]
synonym: "scoliosis, isolated, susceptibility to, 4; IS4" RELATED [OMIM:612238]
xref: OMIM:612238 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677108
property_value: exactMatch http://identifiers.org/omim/612238

[Term]
id: MONDO:0012827
name: scoliosis, isolated, susceptibility to, 5
subset: predisposition
synonym: "IS5" EXACT [MONDO:Lexical, OMIM:612239]
synonym: "scoliosis, isolated, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612239]
synonym: "scoliosis, isolated, susceptibility to, 5; IS5" RELATED [OMIM:612239]
xref: OMIM:612239 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677107
property_value: exactMatch http://identifiers.org/omim/612239

[Term]
id: MONDO:0012828
name: atrial fibrillation, familial, 7
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB7" RELATED [MONDO:Lexical, OMIM:612240]
synonym: "atrial fibrillation, familial, 7" EXACT [MONDO:Lexical, OMIM:612240]
synonym: "atrial fibrillation, familial, 7; ATFB7" RELATED [OMIM:612240]
synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1, OMIM:612240]
synonym: "familial atrial fibrillation caused by mutation in KCNA5" EXACT [MONDO:design_pattern]
synonym: "KCNA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567389 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612240 {source="MONDO:equivalentTo"}
xref: UMLS:C2677106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612240"}
is_a: MONDO:0018054 {source="DC-OMIM:612240", source="MONDO:Redundant", source="MONDOLEX:0012828", source="OMIM:612240"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C567389
property_value: exactMatch http://identifiers.org/omim/612240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677106

[Term]
id: MONDO:0012829
name: inflammatory bowel disease 12
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3" [DOID:0110887, PMID:17804789]
synonym: "IBD12" EXACT [DOID:0110887, MONDO:Lexical, OMIM:612241]
synonym: "inflammatory bowel disease 12" EXACT [MONDO:Lexical, OMIM:612241]
synonym: "inflammatory bowel disease 12; IBD12" RELATED [OMIM:612241]
synonym: "inflammatory bowel disease type 12" EXACT [DOID:0110887, MONDORULE:2]
xref: DOID:0110887 {source="MONDO:equivalentTo"}
xref: MESH:C567388 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612241 {source="DOID:0110887", source="MONDO:equivalentTo"}
xref: UMLS:C2677105 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612241"}
is_a: MONDO:0005265 {source="DC-OMIM:612241", source="DOID:0110887", source="MESH:C567388", source="OMIM:612241"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110887
property_value: exactMatch http://identifiers.org/mesh/C567388
property_value: exactMatch http://identifiers.org/omim/612241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677105

[Term]
id: MONDO:0012830
name: chromosome 10q23 deletion syndrome
def: "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." [Orphanet:276413]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:276413"}
synonym: "10q22.3q23 microdeletion syndrome" RELATED [GARD:0013018]
synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [Orphanet:276413]
synonym: "chromosome 10Q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242]
synonym: "chromosome 10q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242]
synonym: "chromosome 10q23 deletion syndrome" EXACT [OMIM:612242]
synonym: "Del(10)(q22.3q23.3)" EXACT [Orphanet:276413]
synonym: "deletion 10q22.3q23.3" EXACT [Orphanet:276413]
synonym: "juvenile polyposis of infancy" RELATED [OMIM:612242]
synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242]
synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413]
xref: DOID:0060389 {source="MONDO:equivalentTo"}
xref: GARD:0013018 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:276413/attributed", source="ORDO:276413/ntbt", source="Orphanet:276413"}
xref: MESH:C567385 {source="DOID:0060389", source="MONDO:equivalentTo"}
xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="ORDO:276413/e"}
xref: Orphanet:276413 {source="MONDO:equivalentTo"}
xref: UMLS:C2677102 {source="OMIM:612242", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN202618 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612242", source="DOID:0060389"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016909 {source="Orphanet:276413"} ! partial monosomy of the long arm of chromosome 10
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345893
property_value: exactMatch DOID:0060389
property_value: exactMatch http://identifiers.org/mesh/C567385
property_value: exactMatch http://identifiers.org/omim/612242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202618
property_value: exactMatch Orphanet:276413

[Term]
id: MONDO:0012831
name: inflammatory bowel disease 13
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCB1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBD13" EXACT [DOID:0110893, MONDO:Lexical, OMIM:612244]
synonym: "inflammatory bowel disease 13" EXACT [MONDO:Lexical, OMIM:612244]
synonym: "inflammatory bowel disease 13; IBD13" RELATED [OMIM:612244]
synonym: "inflammatory bowel disease caused by mutation in ABCB1" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 13" EXACT [DOID:0110893, MONDORULE:2, OMIM:612244]
xref: DOID:0110893 {source="MONDO:equivalentTo"}
xref: MESH:C567384 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612244 {source="MONDO:equivalentTo", source="DOID:0110893"}
xref: UMLS:C2677101 {source="OMIM:612244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612244", source="DOID:0110893", source="MESH:C567384", source="MONDO:Redundant", source="OMIM:612244"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110893
property_value: exactMatch http://identifiers.org/mesh/C567384
property_value: exactMatch http://identifiers.org/omim/612244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677101

[Term]
id: MONDO:0012832
name: inflammatory bowel disease 14
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD14" EXACT [DOID:0110895, MONDO:Lexical, OMIM:612245]
synonym: "inflammatory bowel disease 14" EXACT [MONDO:Lexical, OMIM:612245]
synonym: "inflammatory bowel disease 14; IBD14" RELATED [OMIM:612245]
synonym: "inflammatory bowel disease caused by mutation in IRF5" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 14" EXACT [DOID:0110895, MONDORULE:2, OMIM:612245]
synonym: "IRF5 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110895 {source="MONDO:equivalentTo"}
xref: MESH:C567383 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612245 {source="MONDO:equivalentTo", source="DOID:0110895"}
xref: UMLS:C2677100 {source="OMIM:612245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612245", source="DOID:0110895", source="MESH:C567383", source="MONDO:Redundant", source="OMIM:612245"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110895
property_value: exactMatch http://identifiers.org/mesh/C567383
property_value: exactMatch http://identifiers.org/omim/612245
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677100

[Term]
id: MONDO:0012833
name: Crouzon syndrome-acanthosis nigricans syndrome
def: "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term)." [Orphanet:93262]
subset: ordo_malformation_syndrome {source="Orphanet:93262"}
synonym: "CAN" EXACT [DOID:0111161, MONDO:Lexical, OMIM:612247]
synonym: "chronic allograft nephropathy" EXACT [NCIT:C38145]
synonym: "Chronic kidney allograft nephropathy" EXACT [NCIT:C38145]
synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:612247]
synonym: "Crouzon syndrome with acanthosis nigricans; can" RELATED [OMIM:612247]
synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262]
synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247]
xref: DOID:0111161 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.1 {source="Orphanet:93262", source="ORDO:93262/attributed", source="ORDO:93262/ntbt"}
xref: MESH:C567382 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C38145 {source="MONDO:equivalentTo"}
xref: OMIM:612247 {source="Orphanet:93262", source="MONDO:equivalentTo", source="DOID:0111161", source="ORDO:93262/e"}
xref: Orphanet:93262 {source="OMIM:612247", source="MONDO:equivalentTo", source="DOID:0111161"}
xref: SCTID:702361006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.75"}
is_a: MONDO:0000426 {source="DOID:0111161", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0005363 {source="NCIT:C38145"} ! focal segmental glomerulosclerosis
is_a: MONDO:0015338 {source="Orphanet:93262"} ! syndromic craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:93262"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677099
property_value: exactMatch DOID:0111161
property_value: exactMatch http://identifiers.org/mesh/C567382
property_value: exactMatch http://identifiers.org/omim/612247
property_value: exactMatch http://identifiers.org/snomedct/702361006
property_value: exactMatch NCIT:C38145
property_value: exactMatch Orphanet:93262

[Term]
id: MONDO:0012834
name: systemic lupus erythematosus, susceptibility to, 10
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IRF5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SLEB10" RELATED [MONDO:Lexical, OMIM:612251]
synonym: "susceptibility to systemic lupus erythematosus 10" RELATED [OMIM:612251]
synonym: "systemic lupus erythematosus (disease) caused by mutation in IRF5" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612251]
synonym: "systemic lupus erythematosus, susceptibility to, 10; SLEB10" RELATED [OMIM:612251]
synonym: "systemic lupus erythematosus, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612251]
xref: OMIM:612251 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677097
property_value: exactMatch http://identifiers.org/omim/612251

[Term]
id: MONDO:0012835
name: systemic lupus erythematosus, susceptibility to, 11
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "SLEB11" RELATED [MONDO:Lexical, OMIM:612253]
synonym: "STAT4 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to systemic lupus erythematosus 11" RELATED [OMIM:612253]
synonym: "systemic lupus erythematosus (disease) caused by mutation in STAT4" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612253]
synonym: "systemic lupus erythematosus, susceptibility to, 11; SLEB11" RELATED [OMIM:612253]
synonym: "systemic lupus erythematosus, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:612253]
xref: OMIM:612253 {source="MONDO:equivalentTo"}
is_a: MONDO:0007915 {source="DC-OMIM:612253", source="MONDO:Redundant", source="MONDOLEX:0012835"} ! systemic lupus erythematosus (disease)
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0020573 ! inherited disease susceptibility
is_a: MONDO:0021181 ! inherited blood coagulation disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677096
property_value: exactMatch http://identifiers.org/omim/612253

[Term]
id: MONDO:0012836
name: systemic lupus erythematosus, susceptibility to, 12
subset: predisposition
synonym: "SLEB12" EXACT [MONDO:Lexical, OMIM:612254]
synonym: "systemic lupus erythematosus, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:612254]
synonym: "systemic lupus erythematosus, susceptibility to, 12; SLEB12" EXACT [OMIM:612254]
xref: OMIM:612254 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677095
property_value: exactMatch http://identifiers.org/omim/612254

[Term]
id: MONDO:0012837
name: inflammatory bowel disease 15
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21." [DOID:0110897, PMID:18438406]
synonym: "IBD15" EXACT [DOID:0110897, MONDO:Lexical, OMIM:612255]
synonym: "inflammatory bowel disease 15" EXACT [MONDO:Lexical, OMIM:612255]
synonym: "inflammatory bowel disease 15; IBD15" EXACT [OMIM:612255]
synonym: "inflammatory bowel disease type 15" EXACT [DOID:0110897, MONDORULE:2]
xref: DOID:0110897 {source="MONDO:equivalentTo"}
xref: MESH:C567381 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612255 {source="DOID:0110897", source="MONDO:equivalentTo"}
xref: UMLS:C2677094 {source="OMIM:612255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612255", source="DOID:0110897", source="MESH:C567381", source="OMIM:612255"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110897
property_value: exactMatch http://identifiers.org/mesh/C567381
property_value: exactMatch http://identifiers.org/omim/612255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677094

[Term]
id: MONDO:0012838
name: inflammatory bowel disease 16
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32." [DOID:0110896, PMID:18587394]
synonym: "IBD16" EXACT [DOID:0110896, MONDO:Lexical, OMIM:612259]
synonym: "inflammatory bowel disease 16" EXACT [MONDO:Lexical, OMIM:612259]
synonym: "inflammatory bowel disease 16; IBD16" EXACT [OMIM:612259]
synonym: "inflammatory bowel disease type 16" EXACT [DOID:0110896, MONDORULE:2]
xref: DOID:0110896 {source="MONDO:equivalentTo"}
xref: MESH:C567380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612259 {source="DOID:0110896", source="MONDO:equivalentTo"}
xref: UMLS:C2677093 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612259"}
is_a: MONDO:0005265 {source="DC-OMIM:612259", source="DOID:0110896", source="MESH:C567380", source="OMIM:612259"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110896
property_value: exactMatch http://identifiers.org/mesh/C567380
property_value: exactMatch http://identifiers.org/omim/612259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677093

[Term]
id: MONDO:0012839
name: pyogenic bacterial infections due to MyD88 deficiency
def: "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." [Orphanet:183713]
subset: ordo_disease {source="Orphanet:183713"}
synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260, Orphanet:183713]
synonym: "MyD88 deficiency; MYD88D" EXACT [OMIM:612260]
synonym: "MYD88D" EXACT [MONDO:Lexical, OMIM:612260]
synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260]
synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260]
xref: GARD:0012638 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D84.8 {source="ORDO:183713/attributed", source="ORDO:183713/ntbt", source="Orphanet:183713"}
xref: MESH:C567379 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612260 {source="MONDO:equivalentTo", source="Orphanet:183713", source="ORDO:183713/e"}
xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"}
xref: UMLS:C2677092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:612260", source="Orphanet:183713"}
is_a: MONDO:0015979 {source="Orphanet:183713"} ! hereditary predisposition to infections
property_value: exactMatch http://identifiers.org/mesh/C567379
property_value: exactMatch http://identifiers.org/omim/612260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677092
property_value: exactMatch Orphanet:183713

[Term]
id: MONDO:0012840
name: inflammatory bowel disease 17
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD17" EXACT [DOID:0110883, MONDO:Lexical, OMIM:612261]
synonym: "IL23R inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 17" EXACT [MONDO:Lexical, OMIM:612261]
synonym: "inflammatory bowel disease 17; IBD17" EXACT [OMIM:612261]
synonym: "inflammatory bowel disease caused by mutation in IL23R" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 17" EXACT [DOID:0110883, MONDORULE:2, OMIM:612261]
xref: DOID:0110883 {source="MONDO:equivalentTo"}
xref: MESH:C567378 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612261 {source="MONDO:equivalentTo", source="DOID:0110883"}
xref: UMLS:C2677091 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612261"}
is_a: MONDO:0005265 {source="DC-OMIM:612261", source="DOID:0110883", source="MESH:C567378", source="MONDO:Redundant", source="OMIM:612261"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110883
property_value: exactMatch http://identifiers.org/mesh/C567378
property_value: exactMatch http://identifiers.org/omim/612261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677091

[Term]
id: MONDO:0012841
name: inflammatory bowel disease 18
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1." [DOID:0110888, PMID:17447842]
synonym: "IBD18" EXACT [DOID:0110888, MONDO:Lexical, OMIM:612262]
synonym: "inflammatory bowel disease 18" EXACT [MONDO:Lexical, OMIM:612262]
synonym: "inflammatory bowel disease 18; IBD18" EXACT [OMIM:612262]
synonym: "inflammatory bowel disease type 18" EXACT [DOID:0110888, MONDORULE:2]
xref: DOID:0110888 {source="MONDO:equivalentTo"}
xref: MESH:C567377 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612262 {source="DOID:0110888", source="MONDO:equivalentTo"}
xref: UMLS:C2677090 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612262"}
is_a: MONDO:0005265 {source="DC-OMIM:612262", source="DOID:0110888", source="MESH:C567377", source="OMIM:612262"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110888
property_value: exactMatch http://identifiers.org/mesh/C567377
property_value: exactMatch http://identifiers.org/omim/612262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677090

[Term]
id: MONDO:0012842
name: CMM7
subset: predisposition
synonym: "CMM7" EXACT [MONDO:Lexical, OMIM:612263]
synonym: "melanoma, cutaneous malignant, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612263]
synonym: "melanoma, cutaneous malignant, susceptibility to, 7; CMM7" EXACT [OMIM:612263]
xref: OMIM:612263 {source="MONDO:equivalentTo"}
is_a: MONDO:0024462 {source="OMIM", source="OMIM:612263"} ! familial cutaneous melanoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677089
property_value: exactMatch http://identifiers.org/omim/612263

[Term]
id: MONDO:0012843
name: epilepsy, childhood absence, susceptibility to, 5
def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "childhood absence epilepsy caused by mutation in GABRB3" EXACT [MONDO:design_pattern]
synonym: "ECA5" EXACT [MONDO:Lexical, OMIM:612269]
synonym: "epilepsy, childhood absence, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612269]
synonym: "epilepsy, childhood absence, susceptibility to, 5; ECA5" EXACT [OMIM:612269]
synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612269]
synonym: "GABRB3 childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to childhood absence epilepsy 5" EXACT [OMIM:612269]
xref: OMIM:612269 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0010826 ! childhood absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677087
property_value: exactMatch http://identifiers.org/omim/612269

[Term]
id: MONDO:0012844
name: primary ciliary dyskinesia 8
def: "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25." [DOID:0110616, PMID:18270537]
synonym: "CILD8" EXACT [DOID:0110616, MONDO:Lexical, OMIM:612274]
synonym: "ciliary dyskinesia, primary, 8" RELATED [MONDO:Lexical, OMIM:612274]
synonym: "ciliary dyskinesia, primary, 8, with or without situs inversus" RELATED [OMIM:612274]
synonym: "ciliary dyskinesia, primary, 8; CILD8" RELATED [OMIM:612274]
synonym: "primary ciliary dyskinesia 8 with or without situs inversus" EXACT [DOID:0110616]
synonym: "primary ciliary dyskinesia type 8" EXACT [DOID:0110616, MONDORULE:1]
xref: DOID:0110616 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110616"}
xref: MESH:C567373 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612274 {source="MONDO:equivalentTo", source="DOID:0110616"}
xref: UMLS:C2677085 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612274"}
is_a: MONDO:0016575 {source="DC-OMIM:612274", source="DOID:0110616", source="MESH:C567373", source="MESH:C567373/inferred", source="MONDOLEX:0012844", source="OMIM:612274"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110616
property_value: exactMatch http://identifiers.org/mesh/C567373
property_value: exactMatch http://identifiers.org/omim/612274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677085

[Term]
id: MONDO:0012845
name: inflammatory bowel disease 19
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD19" EXACT [DOID:0110890, MONDO:Lexical, OMIM:612278]
synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [DOID:0110890]
synonym: "inflammatory bowel disease (Crohn disease) 19; IBD19" RELATED [OMIM:612278]
synonym: "inflammatory bowel disease 19" EXACT [MONDO:Lexical, OMIM:612278]
synonym: "inflammatory bowel disease 19; IBD19" RELATED [OMIM:612278]
synonym: "inflammatory bowel disease caused by mutation in IRGM" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 19" EXACT [DOID:0110890, MONDORULE:2, OMIM:612278]
synonym: "IRGM inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110890 {source="MONDO:equivalentTo"}
xref: MESH:C567372 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612278 {source="MONDO:equivalentTo", source="DOID:0110890"}
xref: UMLS:C2677079 {source="OMIM:612278", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612278", source="DOID:0110890", source="MESH:C567372", source="MONDO:Redundant", source="OMIM:612278"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110890
property_value: exactMatch http://identifiers.org/mesh/C567372
property_value: exactMatch http://identifiers.org/omim/612278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677079

[Term]
id: MONDO:0012846
name: GEFSP6
synonym: "Gefs+, type 6" RELATED [OMIM:612279]
synonym: "GEFSP6" EXACT [MONDO:Lexical, OMIM:612279]
synonym: "generalized epilepsy with febrile seizures plus, type 6" RELATED [MONDO:Lexical, OMIM:612279]
synonym: "generalized epilepsy with febrile seizures plus, type 6; GEFSP6" RELATED [OMIM:612279]
xref: MESH:C567371 {source="MONDO:equivalentTo"}
xref: OMIM:612279 {source="MONDO:equivalentTo"}
xref: UMLS:C2677078 {source="NCBI:mim2gene_medline", source="OMIM:612279", source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="DC-OMIM:612279", source="OMIM:612279"} ! generalized epilepsy with febrile seizures plus
property_value: exactMatch http://identifiers.org/mesh/C567371
property_value: exactMatch http://identifiers.org/omim/612279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677078

[Term]
id: MONDO:0012847
name: autosomal recessive congenital ichthyosis 6
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI6" EXACT [DOID:0060715, MONDO:Lexical, OMIM:612281]
synonym: "autosomal recessive congenital ichthyosis type 6" EXACT [DOID:0060715, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:612281]
synonym: "ichthyosis, congenital, autosomal recessive 6; ARCI6" RELATED [OMIM:612281]
synonym: "ichthyosis, congenital, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:612281]
synonym: "ichthyosis, congenital, autosomal recessive, Nipal4-related" RELATED [OMIM:612281]
xref: DOID:0060715 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060715"}
xref: OMIM:612281 {source="MONDO:equivalentTo", source="DOID:0060715"}
xref: UMLS:C2677065 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612281"}
is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis
is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
property_value: exactMatch DOID:0060715
property_value: exactMatch http://identifiers.org/omim/612281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677065

[Term]
id: MONDO:0012848
name: Meckel syndrome, type 6
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CC2D2A Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 6" RELATED [DOID:0070120]
synonym: "Meckel syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 6" EXACT [MONDO:Lexical, OMIM:612284]
synonym: "Meckel syndrome, type 6; MKS6" RELATED [OMIM:612284]
synonym: "Meckel-Gruber syndrome, type 6" EXACT [DOID:0070120]
synonym: "MKS6" EXACT [DOID:0070120, MONDO:Lexical, OMIM:612284]
xref: DOID:0070120 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070120"}
xref: MESH:C567365 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612284 {source="DOID:0070120", source="MONDO:equivalentTo"}
xref: UMLS:C2676790 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612284"}
is_a: MONDO:0018921 {source="DC-OMIM:612284", source="DOID:0070120", source="MONDO:Redundant", source="OMIM:612284"} ! Meckel syndrome
property_value: exactMatch DOID:0070120
property_value: exactMatch http://identifiers.org/mesh/C567365
property_value: exactMatch http://identifiers.org/omim/612284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676790

[Term]
id: MONDO:0012849
name: Joubert syndrome 9
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CC2D2A Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS9" EXACT [DOID:0111004, MONDO:Lexical, OMIM:612285]
synonym: "Joubert syndrome 9" EXACT [MONDO:Lexical, OMIM:612285]
synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:612285]
synonym: "Joubert syndrome 9; JBTS9" RELATED [OMIM:612285]
synonym: "Joubert syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 9" EXACT [DOID:0111004, MONDORULE:1, OMIM:612285]
xref: DOID:0111004 {source="MONDO:equivalentTo"}
xref: MESH:C567364 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612285 {source="MONDO:equivalentTo", source="DOID:0111004"}
xref: UMLS:C2676788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612285"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:612285", source="DOID:0111004", source="MONDO:Redundant", source="OMIM:612285"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0111004
property_value: exactMatch http://identifiers.org/mesh/C567364
property_value: exactMatch http://identifiers.org/omim/612285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676788

[Term]
id: MONDO:0012850
name: hypophosphatemic nephrolithiasis/osteoporosis 1
synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 1" EXACT [DOID:0080077, MONDORULE:1]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1" RELATED [MONDO:Lexical, OMIM:612286]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1; NPHLOP1" RELATED [OMIM:612286]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" EXACT [MONDORULE:1, OMIM:612286]
synonym: "NPHLOP1" RELATED [MONDO:Lexical, OMIM:612286]
xref: DOID:0080077 {source="MONDO:equivalentTo"}
xref: MESH:C567363 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612286 {source="DOID:0080077", source="MONDO:equivalentTo"}
xref: UMLS:C2676786 {source="OMIM:612286", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000079 {source="DC-OMIM:612286", source="MONDO:Redundant", source="MONDOLEX:0012850", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic
is_a: MONDO:0001343 {source="DOID:0080077"} ! impaired renal function disease
is_a: MONDO:0016579 {source="ORDO:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis
relationship: disease_has_feature MONDO:0000328 {source="Wikidata"} ! hyperphosphatemia (disease)
property_value: exactMatch DOID:0080077
property_value: exactMatch http://identifiers.org/mesh/C567363
property_value: exactMatch http://identifiers.org/omim/612286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676786

[Term]
id: MONDO:0012851
name: hypophosphatemic nephrolithiasis/osteoporosis 2
synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 2" EXACT [DOID:0080078, MONDORULE:1]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2" RELATED [MONDO:Lexical, OMIM:612287]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2; NPHLOP2" RELATED [OMIM:612287]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" EXACT [MONDORULE:1, OMIM:612287]
synonym: "NPHLOP2" RELATED [MONDO:Lexical, OMIM:612287]
xref: DOID:0080078 {source="MONDO:equivalentTo"}
xref: MESH:C567362 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612287 {source="DOID:0080078", source="MONDO:equivalentTo"}
xref: UMLS:C2676782 {source="OMIM:612287", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000079 {source="DC-OMIM:612287", source="MONDO:Redundant", source="MONDOLEX:0012851", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic
is_a: MONDO:0001343 {source="DOID:0080078"} ! impaired renal function disease
is_a: MONDO:0016579 {source="ORDO:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis
relationship: disease_has_feature MONDO:0000328 {source="Wikidata"} ! hyperphosphatemia (disease)
property_value: exactMatch DOID:0080078
property_value: exactMatch http://identifiers.org/mesh/C567362
property_value: exactMatch http://identifiers.org/omim/612287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676782

[Term]
id: MONDO:0012852
name: inflammatory bowel disease 20
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24." [DOID:0110898, PMID:10053016]
synonym: "IBD20" EXACT [DOID:0110898, MONDO:Lexical, OMIM:612288]
synonym: "inflammatory bowel disease 20" EXACT [MONDO:Lexical, OMIM:612288]
synonym: "inflammatory bowel disease 20; IBD20" RELATED [OMIM:612288]
synonym: "inflammatory bowel disease type 20" EXACT [DOID:0110898, MONDORULE:2]
xref: DOID:0110898 {source="MONDO:equivalentTo"}
xref: MESH:C567361 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612288 {source="DOID:0110898", source="MONDO:equivalentTo"}
xref: UMLS:C2676781 {source="OMIM:612288", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612288", source="DOID:0110898", source="MESH:C567361", source="OMIM:612288"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110898
property_value: exactMatch http://identifiers.org/mesh/C567361
property_value: exactMatch http://identifiers.org/omim/612288
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676781

[Term]
id: MONDO:0012853
name: progeroid syndrome, Petty type
def: "Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." [Orphanet:2963]
subset: gard_rare {source="GARD:0004497"}
subset: ordo_malformation_syndrome {source="Orphanet:2963"}
synonym: "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" RELATED [OMIM:612289]
synonym: "Fontaine progeroid syndrome" RELATED [OMIM:612289]
synonym: "Fontaine progeroid syndrome; FPS" RELATED [OMIM:612289]
synonym: "FPS" RELATED [OMIM:612289]
synonym: "Petty Laxova Wiedemann syndrome" RELATED [GARD:0004497]
synonym: "Petty syndrome" EXACT [Orphanet:2963]
synonym: "Petty-Laxova-Wiedemann syndrome" EXACT [Orphanet:2963]
synonym: "progeroid syndrome congenital Petty type" RELATED [GARD:0004497]
synonym: "progeroid syndrome Petty type" RELATED [GARD:0004497]
synonym: "progeroid syndrome, congenital, Petty type" RELATED [OMIM:612289]
xref: GARD:0004497 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="ORDO:2963/attributed", source="ORDO:2963/ntbt", source="Orphanet:2963"}
xref: OMIM:612289 {source="ORDO:2963/e", source="MONDO:equivalentTo", source="Orphanet:2963"}
xref: Orphanet:2963 {source="OMIM:612289", source="MONDO:equivalentTo"}
xref: UMLS:C2931653 {source="MONDO:equivalentTo", source="Orphanet:2963", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015333 {source="DC-OMIM:612289"} ! progeroid syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676780
property_value: exactMatch http://identifiers.org/omim/612289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931653
property_value: exactMatch Orphanet:2963
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type xsd:anyURI {source="GARD:0004497"}

[Term]
id: MONDO:0012854
name: bilateral microtia-deafness-cleft palate syndrome
def: "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." [Orphanet:140963]
subset: ordo_malformation_syndrome {source="Orphanet:140963"}
synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290]
synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290]
xref: ICD10:Q87.0 {source="ORDO:140963/attributed", source="ORDO:140963/ntbt", source="Orphanet:140963"}
xref: MESH:C567359 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612290 {source="MONDO:equivalentTo", source="Orphanet:140963", source="ORDO:140963/e"}
xref: Orphanet:140963 {source="MONDO:equivalentTo", source="OMIM:612290"}
xref: UMLS:C2676772 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612290", source="Orphanet:140963"}
is_a: MONDO:0015335 {source="Orphanet:140963"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:140963"} ! syndromic genetic deafness
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808166
property_value: exactMatch http://identifiers.org/mesh/C567359
property_value: exactMatch http://identifiers.org/omim/612290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676772
property_value: exactMatch Orphanet:140963

[Term]
id: MONDO:0012855
name: Joubert syndrome 8
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARL13B Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS8" EXACT [DOID:0111003, MONDO:Lexical, OMIM:612291]
synonym: "Joubert syndrome 8" EXACT [MONDO:Lexical, OMIM:612291]
synonym: "Joubert syndrome 8; JBTS8" RELATED [OMIM:612291]
synonym: "Joubert syndrome caused by mutation in ARL13B" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 8" EXACT [DOID:0111003, MONDORULE:1, OMIM:612291]
xref: DOID:0111003 {source="MONDO:equivalentTo"}
xref: MESH:C567358 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612291 {source="MONDO:equivalentTo", source="DOID:0111003"}
xref: UMLS:C2676771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612291"}
is_a: MONDO:0018772 {source="DC-OMIM:612291", source="DOID:0111003", source="MONDO:Redundant", source="OMIM:612291"} ! Joubert syndrome
property_value: exactMatch DOID:0111003
property_value: exactMatch http://identifiers.org/mesh/C567358
property_value: exactMatch http://identifiers.org/omim/612291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676771

[Term]
id: MONDO:0012856
name: Birk-Barel syndrome
def: "Birk-Barel syndrome is an inherited condition characterized by intellectual disability , hypotonia , hyperactivity , and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8 . This condition demonstrates dominant inheritance with paternal imprinting , which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." [https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome]
subset: gard_rare {source="GARD:0010358"}
subset: ordo_disease {source="Orphanet:166108"}
synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED [GARD:0010358]
synonym: "BIRK-Barel mental retardation dysmorphism syndrome" EXACT [DOID:0050675, OMIM:612292]
synonym: "Birk-Barel syndrome" EXACT [OMIM:612292]
synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108]
synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108]
synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED [OMIM:612292]
xref: DOID:0050675 {source="MONDO:equivalentTo"}
xref: GARD:0010358 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:166108/attributed", source="ORDO:166108/ntbt", source="Orphanet:166108"}
xref: MESH:C567357 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612292 {source="DOID:0050675", source="MONDO:equivalentTo", source="ORDO:166108/e", source="Orphanet:166108"}
xref: Orphanet:166108 {source="MONDO:equivalentTo", source="OMIM:612292"}
xref: SCTID:764861005 {source="MONDO:equivalentTo"}
xref: UMLS:C2676770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612292", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000426 {source="DOID:0050675", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="Orphanet:166108"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0050675
property_value: exactMatch http://identifiers.org/mesh/C567357
property_value: exactMatch http://identifiers.org/omim/612292
property_value: exactMatch http://identifiers.org/snomedct/764861005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676770
property_value: exactMatch Orphanet:166108
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome xsd:anyURI {source="GARD:0010358"}

[Term]
id: MONDO:0012857
name: POROK5
synonym: "POROK5" EXACT [MONDO:Lexical, OMIM:612293]
synonym: "porokeratosis 5, disseminated superficial actinic type" RELATED [MONDO:Lexical, OMIM:612293]
synonym: "porokeratosis 5, disseminated superficial actinic type; POROK5" RELATED [OMIM:612293]
synonym: "porokeratosis, disseminated superficial actinic, 3" RELATED [OMIM:612293]
xref: MESH:C567356 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612293 {source="MONDO:equivalentTo"}
xref: UMLS:C2676769 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612293"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: exactMatch http://identifiers.org/mesh/C567356
property_value: exactMatch http://identifiers.org/omim/612293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676769

[Term]
id: MONDO:0012858
name: primary CD59 deficiency
subset: ordo_disease {source="Orphanet:169464"}
synonym: "CD59 deficiency" RELATED [OMIM:612300]
synonym: "HACD59" RELATED [MONDO:Lexical, OMIM:612300]
synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300]
synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy; HACD59" RELATED [OMIM:612300]
xref: ICD10:D84.1 {source="Orphanet:169464", source="ORDO:169464/attributed", source="ORDO:169464/ntbt"}
xref: MESH:C567355 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="ORDO:169464/e"}
xref: Orphanet:169464 {source="OMIM:612300", source="MONDO:equivalentTo"}
xref: UMLS:C2676767 {source="OMIM:612300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018727 {source="Orphanet:169464"} ! immunodeficiency due to a complement regulatory deficiency
is_a: MONDO:0020101 {source="Orphanet:169464"} ! constitutional hemolytic anemia due to membrane defect
is_a: MONDO:0020127 {source="Orphanet:169464"} ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C567355
property_value: exactMatch http://identifiers.org/omim/612300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676767
property_value: exactMatch Orphanet:169464

[Term]
id: MONDO:0012859
name: autosomal recessive osteopetrosis 7
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010106"}
subset: ordo_disease {source="Orphanet:178389"}
synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946, Orphanet:178389]
synonym: "autosomal recessive osteopetrosis type 7" EXACT [DOID:0110946, MONDORULE:1, Orphanet:178389]
synonym: "OPTB7" EXACT [DOID:0110946, MONDO:Lexical, OMIM:612301]
synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946]
synonym: "osteopetrosis (disease) caused by mutation in TNFRSF11A" EXACT []
synonym: "osteopetrosis autosomal recessive 7" RELATED [GARD:0010106]
synonym: "osteopetrosis osteoclast-poor with hypogammaglobulinemia" RELATED [GARD:0010106]
synonym: "osteopetrosis, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:612301]
synonym: "osteopetrosis, autosomal recessive 7; OPTB7" RELATED [OMIM:612301]
synonym: "osteopetrosis, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:612301]
synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [OMIM:612301]
synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946]
synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110946 {source="MONDO:equivalentTo"}
xref: GARD:0010106 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.2 {source="Orphanet:178389", source="DOID:0110946", source="ORDO:178389/attributed", source="ORDO:178389/ntbt"}
xref: MESH:C567354 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612301 {source="ORDO:178389/e", source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946"}
xref: Orphanet:178389 {source="OMIM:612301", source="MONDO:equivalentTo", source="DOID:0110946"}
xref: UMLS:C2676766 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="OMIM:612301", source="Orphanet:178389", source="MONDO:equivalentTo"}
is_a: MONDO:0018041 {source="Orphanet:178389"} ! other immunodeficiency syndrome with predominantly antibody defects
is_a: MONDO:0019026 ! autosomal recessive osteopetrosis
property_value: exactMatch DOID:0110946
property_value: exactMatch http://identifiers.org/mesh/C567354
property_value: exactMatch http://identifiers.org/omim/612301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676766
property_value: exactMatch Orphanet:178389
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7 xsd:anyURI {source="GARD:0010106"}

[Term]
id: MONDO:0012860
name: thrombophilia due to protein C deficiency, autosomal recessive
subset: gard_rare
synonym: "autosomal recessive hereditary thrombophilia due to protein C deficiency" RELATED [GARD:0013041]
synonym: "autosomal recessive protein C deficiency" RELATED [GARD:0013041]
synonym: "hereditary thrombophilia due to congenital protein C deficiency" RELATED [GARD:0013041]
synonym: "hereditary thrombophilia due to PC deficiency" RELATED [GARD:0013041]
synonym: "Proc deficiency, autosomal recessive" RELATED [OMIM:612304]
synonym: "Protein C deficiency, autosomal recessive" RELATED [OMIM:612304]
synonym: "THPH4" RELATED [MONDO:Lexical, OMIM:612304]
synonym: "thrombophilia due to protein C deficiency, autosomal recessive" EXACT [GARD:0013041, MONDO:Lexical, OMIM:612304]
synonym: "thrombophilia due to PROTEIN C deficiency, autosomal recessive; THPH4" RELATED [OMIM:612304]
xref: GARD:0013041 {source="MONDO:equivalentTo"}
xref: MESH:C567353 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612304 {source="MONDO:equivalentTo", source="GARD:0013041"}
xref: UMLS:C2676759 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612304"}
is_a: MONDO:0019145 {source="MESH:C567353", source="MONDOLEX:0012860", source="OMIM:612304", source="OMIM:612304/inferred", source="ORDO:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency
property_value: exactMatch http://identifiers.org/mesh/C567353
property_value: exactMatch http://identifiers.org/omim/612304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676759

[Term]
id: MONDO:0012861
name: premature ovarian failure 6
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FIGLA primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof6" RELATED [MONDO:Lexical, OMIM:612310]
synonym: "premature ovarian failure 6" EXACT [MONDO:Lexical, OMIM:612310]
synonym: "premature ovarian failure 6; Pof6" RELATED [OMIM:612310]
synonym: "premature ovarian failure type 6" EXACT [MONDORULE:1, OMIM:612310]
synonym: "primary ovarian failure caused by mutation in FIGLA" EXACT [MONDO:design_pattern]
xref: MESH:C567351 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612310 {source="MONDO:equivalentTo"}
xref: UMLS:C2676742 {source="OMIM:612310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C567351
property_value: exactMatch http://identifiers.org/omim/612310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676742

[Term]
id: MONDO:0012862
name: attention deficit-hyperactivity disorder, susceptibility to, 5
subset: predisposition
synonym: "Adhd5" RELATED [OMIM:612311]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" EXACT [OMIM:612311]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612311]
synonym: "motor timing quantitative trait locus" RELATED [OMIM:612311]
xref: OMIM:612311 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:612311"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676741
property_value: exactMatch http://identifiers.org/omim/612311

[Term]
id: MONDO:0012863
name: attention deficit-hyperactivity disorder, susceptibility to, 6
subset: predisposition
synonym: "Adhd6" RELATED [OMIM:612312]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" EXACT [OMIM:612312]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612312]
synonym: "digit span quantitative trait locus" RELATED [OMIM:612312]
xref: OMIM:612312 {source="MONDO:equivalentTo"}
is_a: MONDO:0005302 {source="DC-OMIM:612312"} ! attention deficit disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676740
property_value: exactMatch http://identifiers.org/omim/612312

[Term]
id: MONDO:0012864
name: chromosome 2q32-q33 deletion syndrome
def: "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." [Orphanet:251019]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:251019"}
synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019]
synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428]
synonym: "2q32q33 microdeletion syndromes" RELATED [GARD:0013206]
synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [OMIM:612313]
synonym: "Del(2)(q32)" EXACT [Orphanet:251019]
synonym: "Del(2)(q32q33)" EXACT [Orphanet:251019]
synonym: "glass" RELATED [MONDO:Lexical, OMIM:612313]
synonym: "glass syndrome" EXACT [DOID:0060428, MONDO:Lexical, OMIM:612313]
synonym: "glass syndrome; glass" RELATED [OMIM:612313]
synonym: "monosomy 2q32" EXACT [DOID:0060428, Orphanet:251019]
synonym: "monosomy 2q32-q33" EXACT [DOID:0060428, GARD:0013206, Orphanet:251019]
synonym: "monosomy 2q32q33" EXACT [DOID:0060428, Orphanet:251019]
synonym: "SAS" RELATED [GARD:0013206]
synonym: "SATB2 syndrome" RELATED [GARD:0013206]
synonym: "SATB2-associated syndrome" RELATED [GARD:0013206]
xref: DOID:0060428 {source="MONDO:equivalentTo"}
xref: GARD:0013206 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:251019/attributed", source="ORDO:251019/ntbt", source="DOID:0060428", source="Orphanet:251019"}
xref: MESH:C567350 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612313 {source="MONDO:equivalentTo", source="DOID:0060428", source="ORDO:251019/e", source="Orphanet:251019"}
xref: Orphanet:251019 {source="OMIM:612313", source="MONDO:equivalentTo", source="DOID:0060428"}
xref: SCTID:719659003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05"}
xref: UMLS:C2676739 {source="MEDGEN:kboom-pr98-c98", source="OMIM:612313", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251019"}
xref: UMLS:C4304531 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612313", source="DOID:0060428"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016901 {source="MONDOLEX:0012864", source="Orphanet:251019"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0100147 {source="https://clinicalgenome.org/affiliation/40006/"} ! SATB2 associated disorder
property_value: exactMatch DOID:0060428
property_value: exactMatch http://identifiers.org/mesh/C567350
property_value: exactMatch http://identifiers.org/omim/612313
property_value: exactMatch http://identifiers.org/snomedct/719659003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304531
property_value: exactMatch Orphanet:251019

[Term]
id: MONDO:0012865
name: Pseudofolliculitis barbae
synonym: "ingrown hairs" RELATED [OMIM:612318]
synonym: "PFB" RELATED [OMIM:612318]
synonym: "pili Incarnati" RELATED [OMIM:612318]
synonym: "Pseudofolliculitis barbae" EXACT [OMIM:612318]
xref: COHD:4160464 {source="MONDO:equivalentTo"}
xref: ICD10:L73.1 {source="MONDO:equivalentTo"}
xref: MESH:C563016 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612318 {source="MONDO:equivalentTo"}
xref: UMLS:C0549150 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612318"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563016
property_value: exactMatch http://identifiers.org/omim/612318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549150

[Term]
id: MONDO:0012866
name: hereditary spastic paraplegia 35
def: "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." [Orphanet:171629]
subset: ordo_disease {source="Orphanet:171629"}
synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786]
synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786]
synonym: "FA2H hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FAHN" EXACT EXCLUDE [DOID:0110786]
synonym: "fatty acid hydroxylase-associated neurodegeneration" EXACT EXCLUDE [DOID:0110786]
synonym: "hereditary spastic paraplegia caused by mutation in FA2H" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 35" EXACT [DOID:0110786, MONDORULE:2]
synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [DOID:0110786]
synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" RELATED [OMIM:612319]
synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319]
synonym: "spastic paraplegia 35, autosomal recessive; SPG35" RELATED [OMIM:612319]
synonym: "SPG35" EXACT [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629]
xref: DOID:0110786 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110786", source="Orphanet:171629", source="ORDO:171629/attributed", source="ORDO:171629/ntbt"}
xref: MESH:C567311 {source="MONDO:equivalentTo"}
xref: OMIM:612319 {source="DOID:0110786", source="ORDO:171629/e", source="Orphanet:171629", source="MONDO:equivalentTo"}
xref: Orphanet:171629 {source="DOID:0110786", source="MONDO:equivalentTo", source="OMIM:612319"}
xref: SCTID:764688002 {source="MONDO:equivalentTo"}
xref: UMLS:C3496228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017915 {source="Orphanet:171629"} ! pure or complex autosomal recessive spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1823105
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3668943
property_value: exactMatch DOID:0110786
property_value: exactMatch http://identifiers.org/mesh/C567311
property_value: exactMatch http://identifiers.org/omim/612319
property_value: exactMatch http://identifiers.org/snomedct/764688002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3496228
property_value: exactMatch Orphanet:171629

[Term]
id: MONDO:0012867
name: hereditary spastic paraplegia 38
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15." [DOID:0110789, PMID:18401025]
subset: ordo_disease {source="Orphanet:171617"}
synonym: "autosomal dominant spastic paraplegia 38" EXACT [DOID:0110789]
synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789]
synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE:2]
synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335]
synonym: "spastic paraplegia 38, autosomal dominant; SPG38" RELATED [OMIM:612335]
synonym: "SPG38" EXACT [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617]
xref: DOID:0110789 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110789", source="Orphanet:171617", source="ORDO:171617/attributed", source="ORDO:171617/ntbt"}
xref: MESH:C567349 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="ORDO:171617/e", source="MONDO:equivalentTo"}
xref: Orphanet:171617 {source="DOID:0110789", source="OMIM:612335", source="MONDO:equivalentTo"}
xref: UMLS:C2676732 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:171617", source="ORDO:171617/e", source="OMIM:612335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015087 {source="Orphanet:171617"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch DOID:0110789
property_value: exactMatch http://identifiers.org/mesh/C567349
property_value: exactMatch http://identifiers.org/omim/612335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676732
property_value: exactMatch Orphanet:171617

[Term]
id: MONDO:0012868
name: thrombophilia due to protein S deficiency, autosomal dominant
def: "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." [MONDO:design_pattern]
comment: Note that ORDO appears to classify as hereditary and acquired.
subset: ordo_disease {source="Orphanet:26349"}
synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern]
synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
synonym: "protein S acquired deficiency" RELATED [Orphanet:26349]
synonym: "THPH5" RELATED [MONDO:Lexical, OMIM:612336]
synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336]
synonym: "thrombophilia due to protein S deficiency, autosomal dominant; THPH5" RELATED [OMIM:612336]
xref: ICD10:D68.8 {source="Orphanet:26349", source="ORDO:26349/ntbt"}
xref: MedDRA:10068370 {source="Orphanet:26349", source="ORDO:26349/e"}
xref: MESH:C567077 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612336 {source="MONDO:equivalentTo"}
xref: Orphanet:26349 {source="MONDO:equivalentTo", source="OMIM:612336"}
xref: UMLS:C3278211 {source="MONDO:equivalentTo", source="OMIM:612336"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0019144 {source="MONDO:Redundant", source="ORDO:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency
relationship: excluded_subClassOf MONDO:0016634 {source="Orphanet:26349"} ! thrombotic disorder due to an acquired coagulation factors defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676728
property_value: exactMatch http://identifiers.org/meddra/10068370
property_value: exactMatch http://identifiers.org/mesh/C567077
property_value: exactMatch http://identifiers.org/omim/612336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363755
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278211
property_value: exactMatch Orphanet:26349

[Term]
id: MONDO:0012869
name: intellectual disability, autosomal dominant 22
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 22" EXACT [DOID:0070052]
synonym: "autosomal dominant non-syndromic intellectual disability 22" RELATED [DOID:0070052]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18" EXACT [MONDO:design_pattern]
synonym: "chromosome 1Q43-q44 deletion syndrome" RELATED [OMIM:612337]
synonym: "chromosome 1Qter deletion syndrome" RELATED [OMIM:612337]
synonym: "mental retardation, autosomal dominant 22" RELATED [MONDO:Lexical, OMIM:612337]
synonym: "mental retardation, autosomal dominant 22; MRD22" RELATED [OMIM:612337]
synonym: "mental retardation, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:612337]
synonym: "MRD22" EXACT [DOID:0070052, MONDO:Lexical, OMIM:612337]
synonym: "ZBTB18 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070052 {source="MONDO:equivalentTo"}
xref: MESH:C567346 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612337 {source="MONDO:equivalentTo", source="DOID:0070052"}
xref: UMLS:C3808184 {source="MONDO:equivalentTo", source="OMIM:612337"}
is_a: MONDO:0015802 {source="DC-OMIM:612337", source="DOID:0070052", source="MONDO:Redundant", source="OMIM:612337"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676727
property_value: exactMatch DOID:0070052
property_value: exactMatch http://identifiers.org/mesh/C567346
property_value: exactMatch http://identifiers.org/omim/612337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808184

[Term]
id: MONDO:0012870
name: chromosome 2q31.2 deletion syndrome
synonym: "chromosome 2q31.2 deletion syndrome" EXACT [OMIM:612345]
xref: DOID:0060416 {source="MONDO:equivalentTo"}
xref: MESH:C567344 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612345 {source="MONDO:equivalentTo", source="DOID:0060416"}
xref: UMLS:C2676724 {source="NCBI:mim2gene_medline", source="OMIM:612345", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612345", source="DOID:0060416"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch DOID:0060416
property_value: exactMatch http://identifiers.org/mesh/C567344
property_value: exactMatch http://identifiers.org/omim/612345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676724

[Term]
id: MONDO:0012871
name: Jervell and Lange-Nielsen syndrome 2
def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010364"}
synonym: "Jervell and Lange-Nielsen syndrome 2" EXACT [MONDO:Lexical, OMIM:612347]
synonym: "Jervell and Lange-Nielsen syndrome 2; JLNS2" RELATED [OMIM:612347]
synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern]
synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1, OMIM:612347]
synonym: "JLNS2" RELATED [MONDO:Lexical, OMIM:612347]
synonym: "KCNE1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010364 {source="MONDO:equivalentTo"}
xref: MESH:C567343 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612347 {source="MONDO:equivalentTo"}
is_a: MONDO:0009078 {source="MONDO:Redundant", source="MONDOLEX:0012871", source="OMIM:612347", source="ORDO:90647/btnt"} ! Jervell and Lange-Nielsen syndrome
is_a: MONDO:0013372 ! long QT syndrome 5
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676723
property_value: exactMatch http://identifiers.org/mesh/C567343
property_value: exactMatch http://identifiers.org/omim/612347
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 xsd:anyURI {source="GARD:0010364"}

[Term]
id: MONDO:0012872
name: THPH9
synonym: "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator" RELATED [OMIM:612348]
synonym: "THPH9" EXACT [MONDO:Lexical, OMIM:612348]
synonym: "thrombophilia, familial, due to decreased release of tissue plasminogen activator" RELATED [MONDO:Lexical, OMIM:612348]
synonym: "thrombophilia, familial, due to decreased release of tissue plasminogen activator; THPH9" RELATED [OMIM:612348]
xref: MESH:C567341 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612348 {source="MONDO:equivalentTo"}
is_a: MONDO:0002305 {source="DC-OMIM:612348", source="MESH:C567341", source="OMIM:612348"} ! thrombophilia
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676721
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676722
property_value: exactMatch http://identifiers.org/mesh/C567341
property_value: exactMatch http://identifiers.org/omim/612348

[Term]
id: MONDO:0012873
name: Ehlers-Danlos syndrome, spondylocheirodysplastic type
def: "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." [Orphanet:157965]
subset: ordo_disease {source="Orphanet:157965"}
synonym: "EDS, spondylocheirodysplastic type" EXACT [Orphanet:157965]
synonym: "EDSSPD3" RELATED [OMIM:612350]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:612350]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3; EDSSPD3" RELATED [OMIM:612350]
synonym: "SCD-EDS" RELATED [OMIM:612350]
synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:157965/attributed", source="ORDO:157965/ntbt", source="Orphanet:157965"}
xref: MESH:C567340 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="ORDO:157965/e"}
xref: Orphanet:157965 {source="MONDO:equivalentTo", source="OMIM:612350"}
xref: UMLS:C2676510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157965", source="MEDGEN:kboom-pr92-c96", source="OMIM:612350"}
is_a: MONDO:0016761 {source="Orphanet:157965"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0020066 {source="MESH:C567340", source="MONDOLEX:0012873", source="OMIM:612350", source="Orphanet:157965"} ! Ehlers-Danlos syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C567340
property_value: exactMatch http://identifiers.org/omim/612350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676510
property_value: exactMatch Orphanet:157965

[Term]
id: MONDO:0012874
name: POROK6
synonym: "POROK6" EXACT [MONDO:Lexical, OMIM:612353]
synonym: "porokeratosis 6, disseminated superficial" RELATED [OMIM:612353]
synonym: "porokeratosis 6, disseminated superficial actinic type" RELATED [MONDO:Lexical, OMIM:612353]
synonym: "porokeratosis 6, disseminated superficial actinic type; POROK6" RELATED [OMIM:612353]
synonym: "porokeratosis 6, multiple types; POROK6" RELATED [OMIM:612353]
synonym: "porokeratosis, disseminated superficial actinic, 4" RELATED [OMIM:612353]
xref: MESH:C567339 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612353 {source="MONDO:equivalentTo"}
xref: UMLS:C2676508 {source="OMIM:612353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: exactMatch http://identifiers.org/mesh/C567339
property_value: exactMatch http://identifiers.org/omim/612353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676508

[Term]
id: MONDO:0012875
name: inflammatory bowel disease 21
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11." [DOID:0110906, PMID:17554261]
synonym: "IBD21" EXACT [DOID:0110906, MONDO:Lexical, OMIM:612354]
synonym: "inflammatory bowel disease 21" EXACT [MONDO:Lexical, OMIM:612354]
synonym: "inflammatory bowel disease 21; IBD21" RELATED [OMIM:612354]
synonym: "inflammatory bowel disease type 21" EXACT [DOID:0110906, MONDORULE:2]
xref: DOID:0110906 {source="MONDO:equivalentTo"}
xref: MESH:C567338 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612354 {source="MONDO:equivalentTo", source="DOID:0110906"}
xref: UMLS:C2676507 {source="OMIM:612354", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612354", source="DOID:0110906", source="MESH:C567338", source="OMIM:612354"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110906
property_value: exactMatch http://identifiers.org/mesh/C567338
property_value: exactMatch http://identifiers.org/omim/612354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676507

[Term]
id: MONDO:0012876
name: heparin cofactor 2 deficiency
synonym: "Hcf 2 deficiency" RELATED [OMIM:612356]
synonym: "Hcf2 deficiency" RELATED [OMIM:612356]
synonym: "heparin cofactor II deficiency" RELATED [OMIM:612356]
synonym: "thrombophilia due to heparin cofactor 2 deficiency" RELATED [OMIM:612356]
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612356 {source="MONDO:equivalentTo"}
xref: SCTID:234468009 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
xref: UMLS:C0398626 {source="NCBI:mim2gene_medline", source="OMIM:612356", source="MONDO:equivalentTo"}
is_a: MONDO:0002305 {source="DC-OMIM:612356", source="OMIM:612356", source="linkedlifedata"} ! thrombophilia
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/mesh/C562865
property_value: exactMatch http://identifiers.org/omim/612356
property_value: exactMatch http://identifiers.org/snomedct/234468009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398626

[Term]
id: MONDO:0012877
name: major affective disorder 8
synonym: "bipolar affective disorder" RELATED [OMIM:612357]
synonym: "MAFD8" EXACT [MONDO:Lexical, OMIM:612357]
synonym: "major affective disorder 8" RELATED [] {comment="OMIM:612357"}
synonym: "MAJOR affective disorder 8; MAFD8" RELATED [OMIM:612357]
xref: MESH:C567530 {source="MONDO:equivalentTo"}
xref: OMIM:612357 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:612357", source="MESH:C567530", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700439
property_value: exactMatch http://identifiers.org/mesh/C567530
property_value: exactMatch http://identifiers.org/omim/612357

[Term]
id: MONDO:0012878
name: Cowden syndrome 2
def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in SDHB" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 2" EXACT [MONDO:Lexical, OMIM:612359]
synonym: "Cowden syndrome 2; CWS2" RELATED [OMIM:612359]
synonym: "Cowden syndrome type 2" EXACT [MONDORULE:1, OMIM:612359]
synonym: "CWS2" RELATED [MONDO:Lexical, OMIM:612359]
synonym: "SDHB Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567337 {source="MONDO:equivalentTo"}
xref: OMIM:612359 {source="MONDO:equivalentTo"}
xref: UMLS:C3552552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612359"}
is_a: MONDO:0016063 {source="DC-OMIM:612359", source="MESH:C567337", source="MONDO:Redundant", source="MONDOLEX:0012878", source="OMIM:612359"} ! Cowden disease
property_value: exactMatch http://identifiers.org/mesh/C567337
property_value: exactMatch http://identifiers.org/omim/612359
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552552

[Term]
id: MONDO:0012879
name: schizophrenia 14
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1." [DOID:0070090]
synonym: "schizophrenia 14" EXACT [OMIM:612361]
synonym: "schizophrenia susceptibility locus, chromosome 2Q32-related" RELATED [OMIM:612361]
synonym: "schizophrenia type 14" EXACT [MONDORULE:2, OMIM:612361]
synonym: "SCZD14" EXACT [DOID:0070090]
synonym: "Sczd14" RELATED [OMIM:612361]
xref: DOID:0070090 {source="MONDO:equivalentTo"}
xref: OMIM:612361 {source="MONDO:equivalentTo", source="DOID:0070090"}
xref: UMLS:C2677614 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612361"}
is_a: MONDO:0005090 {source="DC-OMIM:612361", source="DOID:0070090"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070090
property_value: exactMatch http://identifiers.org/omim/612361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2677614

[Term]
id: MONDO:0012880
name: hypogonadotropic hypogonadism 5 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH5" RELATED [MONDO:Lexical, OMIM:612370]
synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370]
synonym: "hypogonadotropic hypogonadism 5 with or without anosmia; HH5" RELATED [OMIM:612370]
synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO:design_pattern]
synonym: "KAL5" NARROW [GARD:0010773]
synonym: "Kallmann syndrome 5" RELATED [GARD:0010773]
xref: DOID:0090084 {source="MONDO:equivalentTo"}
xref: GARD:0010773 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090084", source="MONDO:relatedTo"}
xref: MESH:C567220 {source="MONDO:equivalentTo"}
xref: OMIM:612370 {source="DOID:0090084", source="GARD:0010773", source="MONDO:equivalentTo"}
xref: UMLS:C3552553 {source="MONDO:equivalentTo", source="OMIM:612370"}
is_a: MONDO:0018800 {source="MESH:C567220", source="MONDOLEX:0012880", source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675302
property_value: exactMatch DOID:0090084
property_value: exactMatch http://identifiers.org/mesh/C567220
property_value: exactMatch http://identifiers.org/omim/612370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552553
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 xsd:anyURI {source="GARD:0010773"}

[Term]
id: MONDO:0012881
name: major affective disorder 7
synonym: "bipolar affective disorder" RELATED [OMIM:612371]
synonym: "MAFD7" RELATED [MONDO:Lexical, OMIM:612371]
synonym: "major affective disorder 7" EXACT [MONDO:Lexical, OMIM:612371]
synonym: "major affective disorder 7; MAFD7" RELATED [OMIM:612371]
synonym: "major affective disorder type 7" EXACT [MONDORULE:1, OMIM:612371]
xref: MESH:C567529 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612371 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:612371", source="MESH:C567529", source="MONDO:Redundant", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700438
property_value: exactMatch http://identifiers.org/mesh/C567529
property_value: exactMatch http://identifiers.org/omim/612371

[Term]
id: MONDO:0012882
name: major affective disorder 9
synonym: "bipolar affective disorder" RELATED [OMIM:612372]
synonym: "MAFD9" EXACT [MONDO:Lexical, OMIM:612372]
synonym: "major affective disorder 9" RELATED [OMIM:612372]
synonym: "MAJOR affective disorder 9; MAFD9" RELATED [OMIM:612372]
xref: MESH:C567531 {source="MONDO:equivalentTo"}
xref: OMIM:612372 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="DC-OMIM:612372", source="MESH:C567531", source="MONDO:cjm"} ! bipolar disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2700440
property_value: exactMatch http://identifiers.org/mesh/C567531
property_value: exactMatch http://identifiers.org/omim/612372

[Term]
id: MONDO:0012883
name: acute promyelocytic leukemia
def: "Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520]
subset: ordo_disease {source="Orphanet:520"}
synonym: "acute myeloblastic leukemia 3" EXACT [Orphanet:520]
synonym: "acute myeloblastic leukemia type 3" EXACT [DOID:0060318]
synonym: "acute myeloid leukemia M3" EXACT [DOID:0060318]
synonym: "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520]
synonym: "acute promyelocytic leukemia" EXACT [MONDO:Lexical, OMIM:612376]
synonym: "acute promyelocytic leukemia with PML-rara" EXACT [NCIT:C3182]
synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" EXACT [NCIT:C3182]
synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" EXACT [NCIT:C3182]
synonym: "acute promyelocytic leukemia; APL" RELATED [OMIM:612376]
synonym: "AML M3" EXACT [Orphanet:520]
synonym: "AML with t(15;17)(q22;q12)" EXACT [NCIT:C3182]
synonym: "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520]
synonym: "APL" RELATED [DOID:0060318, MONDO:Lexical, OMIM:612376]
synonym: "APML" EXACT [Orphanet:520]
synonym: "APML - acute promyelocytic leukemia" EXACT [NCIT:C3182]
synonym: "FAB M3" EXACT [NCIT:C3182]
synonym: "leukemia, acute promyelocytic" RELATED [OMIM:612376]
synonym: "promyelocytic leukemia" EXACT [NCIT:C3182]
xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo"}
xref: EFO:0000224 {source="MONDO:equivalentTo"}
xref: GARD:0000538 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C92.4 {source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"}
xref: ICD10:C92.40 {source="DOID:0060318"}
xref: ICDO:9866/3 {source="NCIT:C3182"}
xref: MedDRA:10001019 {source="ORDO:520/e", source="Orphanet:520"}
xref: MESH:D015473 {source="MONDO:equivalentTo", source="DOID:0060318", source="MONDO:ontobio", source="ORDO:520/e", source="Orphanet:520"}
xref: NCIT:C3182 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="MONDO:kboom-pr-0.94/0.83/0.97"}
xref: OMIM:612376 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"}
xref: Orphanet:520 {source="OMIM:612376", source="MONDO:equivalentTo", source="DOID:0060318"}
xref: SCTID:110004001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67", source="DOID:0060318"}
xref: UMLS:C0023487 {source="NCIT:C3182", source="OMIM:612376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"}
is_a: MONDO:0011118 {source="DOID:0060318", source="EFO:0000224"} ! bilineal acute myeloid leukemia
is_a: MONDO:0020078 {source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: closeMatch http://identifiers.org/snomedct/28950004
property_value: exactMatch DOID:0060318
property_value: exactMatch http://identifiers.org/meddra/10001019
property_value: exactMatch http://identifiers.org/mesh/D015473
property_value: exactMatch http://identifiers.org/omim/612376
property_value: exactMatch http://identifiers.org/snomedct/110004001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023487
property_value: exactMatch NCIT:C3182
property_value: exactMatch Orphanet:520

[Term]
id: MONDO:0012884
name: systemic lupus erythematosus, susceptibility to, 13
subset: predisposition
synonym: "SLEB13" EXACT [MONDO:Lexical, OMIM:612378]
synonym: "systemic lupus erythematosus, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:612378]
synonym: "systemic lupus erythematosus, susceptibility to, 13; SLEB13" EXACT [OMIM:612378]
xref: OMIM:612378 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676487
property_value: exactMatch http://identifiers.org/omim/612378

[Term]
id: MONDO:0012885
name: SRD5A3-CDG
def: "SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." [Orphanet:324737]
subset: ordo_disease {source="Orphanet:324737"}
synonym: "CDG Iq" RELATED [OMIM:612379]
synonym: "CDG syndrome type Iq" EXACT [Orphanet:324737]
synonym: "CDG-Iq" EXACT [Orphanet:324737]
synonym: "CDG1Q" EXACT [MONDO:Lexical, OMIM:612379, Orphanet:324737]
synonym: "CDGIq" RELATED [GARD:0012397]
synonym: "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities" RELATED [OMIM:612379]
synonym: "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" RELATED [GARD:0012397]
synonym: "congenital disorder of glycosylation type 1q" EXACT [Orphanet:324737]
synonym: "congenital disorder of glycosylation type Iq" EXACT [Orphanet:324737]
synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical, OMIM:612379]
synonym: "congenital disorder of glycosylation, type Iq; CDG1Q" RELATED [OMIM:612379]
synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397]
xref: GARD:0012397 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:324737/attributed", source="ORDO:324737/ntbt", source="Orphanet:324737"}
xref: OMIM:612379 {source="MONDO:equivalentTo", source="ORDO:324737/e", source="Orphanet:324737"}
xref: Orphanet:324737 {source="OMIM:612379", source="MONDO:equivalentTo"}
xref: SCTID:733601006 {source="MONDO:equivalentTo"}
xref: UMLS:C3150191 {source="MEDGEN:kboom-pr98-c99", source="OMIM:612379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:324737"}
xref: UMLS:C4317224 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005500 {source="DC-OMIM:612379", source="MONDOLEX:0012885"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017749 {source="Orphanet:324737"} ! disorder of multiple glycosylation
is_a: MONDO:0018286 {source="Orphanet:324737"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018293 {source="Orphanet:324737"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0020149 {source="Orphanet:324737"} ! rare eye disease due to a differentiation anomaly
property_value: closeMatch Orphanet:139477
property_value: exactMatch http://identifiers.org/omim/612379
property_value: exactMatch http://identifiers.org/snomedct/733601006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150191
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317224
property_value: exactMatch Orphanet:324737

[Term]
id: MONDO:0012886
name: inflammatory bowel disease 22
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2." [DOID:0110905, PMID:18438405]
synonym: "IBD22" EXACT [DOID:0110905, MONDO:Lexical, OMIM:612380]
synonym: "inflammatory bowel disease 22" EXACT [MONDO:Lexical, OMIM:612380]
synonym: "inflammatory bowel disease 22; IBD22" RELATED [OMIM:612380]
synonym: "inflammatory bowel disease type 22" EXACT [DOID:0110905, MONDORULE:2]
xref: DOID:0110905 {source="MONDO:equivalentTo"}
xref: MESH:C567327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612380 {source="MONDO:equivalentTo", source="DOID:0110905"}
xref: UMLS:C2676485 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612380"}
is_a: MONDO:0005265 {source="DC-OMIM:612380", source="DOID:0110905", source="MESH:C567327", source="OMIM:612380"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110905
property_value: exactMatch http://identifiers.org/mesh/C567327
property_value: exactMatch http://identifiers.org/omim/612380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676485

[Term]
id: MONDO:0012887
name: inflammatory bowel disease 23
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1." [DOID:0110884, PMID:15937090, PMID:18587394]
synonym: "IBD23" EXACT [DOID:0110884, MONDO:Lexical, OMIM:612381]
synonym: "inflammatory bowel disease 23" EXACT [MONDO:Lexical, OMIM:612381]
synonym: "inflammatory bowel disease 23; IBD23" RELATED [OMIM:612381]
synonym: "inflammatory bowel disease type 23" EXACT [DOID:0110884, MONDORULE:2]
xref: DOID:0110884 {source="MONDO:equivalentTo"}
xref: MESH:C567326 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612381 {source="MONDO:equivalentTo", source="DOID:0110884"}
xref: UMLS:C2676484 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612381"}
is_a: MONDO:0005265 {source="DC-OMIM:612381", source="DOID:0110884", source="MESH:C567326", source="OMIM:612381"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110884
property_value: exactMatch http://identifiers.org/mesh/C567326
property_value: exactMatch http://identifiers.org/omim/612381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676484

[Term]
id: MONDO:0012888
name: sarcoidosis, susceptibility to, 2
def: "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BTNL2 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sarcoidosis caused by mutation in BTNL2" EXACT [MONDO:design_pattern]
synonym: "sarcoidosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612387]
synonym: "sarcoidosis, susceptibility to, 2; SS2" RELATED [OMIM:612387]
synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612387]
synonym: "SS2" RELATED [MONDO:Lexical, OMIM:612387]
synonym: "susceptibility to sarcoidosis 2" RELATED [OMIM:612387]
xref: OMIM:612387 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0019338 ! sarcoidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676468
property_value: exactMatch http://identifiers.org/omim/612387

[Term]
id: MONDO:0012889
name: SS3
subset: predisposition
synonym: "sarcoidosis, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612388]
synonym: "sarcoidosis, susceptibility to, 3; SS3" RELATED [OMIM:612388]
synonym: "SS3" EXACT [MONDO:Lexical, OMIM:612388]
xref: OMIM:612388 {source="MONDO:equivalentTo"}
is_a: MONDO:0019338 {source="DC-OMIM:612388"} ! sarcoidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676467
property_value: exactMatch http://identifiers.org/omim/612388

[Term]
id: MONDO:0012890
name: pontocerebellar hypoplasia type 2B
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2" EXACT [MONDO:design_pattern]
synonym: "PCH2B" RELATED [MONDO:Lexical, OMIM:612389]
synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical, OMIM:612389]
synonym: "pontocerebellar hypoplasia, type 2B; PCH2B" RELATED [OMIM:612389]
synonym: "TSEN2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060268 {source="MONDO:equivalentTo"}
xref: MESH:C567325 {source="DOID:0060268", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"}
xref: UMLS:C2676466 {source="DOID:0060268", source="NCBI:mim2gene_medline", source="OMIM:612389", source="MONDO:equivalentTo"}
is_a: MONDO:0016759 {source="MONDOLEX:0012890", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2
property_value: exactMatch DOID:0060268
property_value: exactMatch http://identifiers.org/mesh/C567325
property_value: exactMatch http://identifiers.org/omim/612389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676466

[Term]
id: MONDO:0012891
name: pontocerebellar hypoplasia type 2C
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34" EXACT [MONDO:design_pattern]
synonym: "PCH2C" RELATED [MONDO:Lexical, OMIM:612390]
synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical, OMIM:612390]
synonym: "pontocerebellar hypoplasia, type 2C; PCH2C" RELATED [OMIM:612390]
synonym: "TSEN34 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060269 {source="MONDO:equivalentTo"}
xref: MESH:C567324 {source="MONDO:equivalentTo", source="DOID:0060269", source="MONDO:ontobio"}
xref: OMIM:612390 {source="MONDO:equivalentTo", source="DOID:0060269"}
xref: UMLS:C2676465 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060269", source="OMIM:612390"}
is_a: MONDO:0016759 {source="MONDOLEX:0012891", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2
property_value: exactMatch DOID:0060269
property_value: exactMatch http://identifiers.org/mesh/C567324
property_value: exactMatch http://identifiers.org/omim/612390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676465

[Term]
id: MONDO:0012892
name: connective tissue disorder due to lysyl hydroxylase-3 deficiency
def: "Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." [Orphanet:300284]
subset: ordo_disease {source="Orphanet:300284"}
synonym: "bone fragility with contractures, arterial rupture, and deafness" RELATED [OMIM:612394]
synonym: "bone fragility-contractures-arterial rupture-deafness syndrome" EXACT [Orphanet:300284]
synonym: "connective tissue disorder due to LH3 deficiency" EXACT [Orphanet:300284]
synonym: "LH3 deficiency" RELATED [OMIM:612394]
synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394]
xref: MESH:C567320 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612394 {source="MONDO:equivalentTo", source="Orphanet:300284", source="ORDO:300284/e"}
xref: Orphanet:300284 {source="MONDO:equivalentTo", source="OMIM:612394"}
xref: SCTID:763318007 {source="MONDO:equivalentTo"}
xref: UMLS:C2676285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:300284", source="OMIM:612394"}
is_a: MONDO:0015332 {source="Orphanet:300284"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015938 {source="Orphanet:300284"} ! systemic disease
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:300284"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019589 {source="Orphanet:300284"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C567320
property_value: exactMatch http://identifiers.org/omim/612394
property_value: exactMatch http://identifiers.org/snomedct/763318007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676285
property_value: exactMatch Orphanet:300284

[Term]
id: MONDO:0012893
name: osteoarthritis susceptibility 5
def: "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "GDF5 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OS5" RELATED [MONDO:Lexical, OMIM:612400]
synonym: "osteoarthritis caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of hip" RELATED [OMIM:612400]
synonym: "osteoarthritis susceptibility 5" EXACT [MONDO:Lexical, OMIM:612400]
synonym: "osteoarthritis susceptibility 5; OS5" RELATED [OMIM:612400]
synonym: "osteoarthritis susceptibility type 5" EXACT [MONDORULE:1, OMIM:612400]
xref: OMIM:612400 {source="MONDO:equivalentTo"}
xref: SCTID:239872002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.10"}
xref: UMLS:C0029410 {source="NCBI:mim2gene_medline", source="OMIM:612400", source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="DC-OMIM:612400", source="MONDO:Redundant", source="MONDOLEX:0012893"} ! osteoarthritis
is_a: MONDO:0020573 ! inherited disease susceptibility
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: predisposes_towards MONDO:0005178 ! osteoarthritis
property_value: exactMatch http://identifiers.org/omim/612400
property_value: exactMatch http://identifiers.org/snomedct/239872002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029410

[Term]
id: MONDO:0012894
name: OS6
synonym: "OS6" EXACT [MONDO:Lexical, OMIM:612401]
synonym: "osteoarthritis of knee" RELATED [OMIM:612401]
synonym: "osteoarthritis susceptibility 6" RELATED [MONDO:Lexical, OMIM:612401]
synonym: "osteoarthritis susceptibility 6; OS6" RELATED [OMIM:612401]
xref: ICD9:715.96 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:612401 {source="MONDO:equivalentTo"}
xref: SCTID:239873007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.10"}
xref: UMLS:C0409959 {source="OMIM:612401", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005178 {source="DC-OMIM:612401", source="MONDOLEX:0012894"} ! osteoarthritis
property_value: exactMatch http://identifiers.org/omim/612401
property_value: exactMatch http://identifiers.org/snomedct/239873007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409959

[Term]
id: MONDO:0012895
name: torsion dystonia 17
def: "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has_material_basis_in variation in the chromosome region 20p11.2-q13.12." [DOID:0090042]
subset: ordo_disease {source="Orphanet:370103"}
synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612406]
synonym: "dystonia 17, torsion, autosomal recessive; DYT17" RELATED [OMIM:612406]
synonym: "DYT17" RELATED [MONDO:Lexical, OMIM:612406]
synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103]
synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2]
xref: DOID:0090042 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="DOID:0090042", source="ORDO:370103/attributed", source="ORDO:370103/ntbt", source="Orphanet:370103"}
xref: MESH:C567319 {source="MONDO:equivalentTo"}
xref: OMIM:612406 {source="DOID:0090042", source="MONDO:equivalentTo", source="ORDO:370103/e", source="Orphanet:370103"}
xref: Orphanet:370103 {source="DOID:0090042", source="MONDO:equivalentTo", source="OMIM:612406"}
xref: UMLS:C2676281 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612406"}
is_a: MONDO:0015990 {source="Orphanet:370103"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090042
property_value: exactMatch http://identifiers.org/mesh/C567319
property_value: exactMatch http://identifiers.org/omim/612406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676281
property_value: exactMatch Orphanet:370103

[Term]
id: MONDO:0012896
name: PSORS10
synonym: "psoriasis 10, susceptibility to" RELATED [MONDO:Lexical, OMIM:612410]
synonym: "psoriasis 10, susceptibility to; PSORS10" RELATED [OMIM:612410]
synonym: "PSORS10" EXACT [MONDO:Lexical, OMIM:612410]
xref: OMIM:612410 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:612410", source="OMIM:612410"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1538742
property_value: exactMatch http://identifiers.org/omim/612410

[Term]
id: MONDO:0012897
name: congenital factor XI deficiency
def: "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." [Orphanet:329]
subset: gard_rare {source="GARD:0009670"}
subset: ordo_disease {source="Orphanet:329"}
synonym: "congenital factor XI deficiency" EXACT [DOID:2229, ICD9CM_2006:286.2]
synonym: "F11 deficiency" RELATED [OMIM:612416]
synonym: "factor 11 deficiency" RELATED [OMIM:612416]
synonym: "factor XI deficiency" RELATED [OMIM:612416]
synonym: "hemophilia C" EXACT [DOID:2229, Orphanet:329]
synonym: "hereditary Factor XI deficiency" EXACT [NCIT:C84705]
synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary factor XI deficiency disease" EXACT [DOID:2229]
synonym: "plasma thromboplastin antecedent deficiency" EXACT [DOID:2229, Orphanet:329]
synonym: "PTA deficiency" EXACT [OMIM:612416, Orphanet:329]
synonym: "Rosenthal factor deficiency" EXACT [Orphanet:329]
synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329]
synonym: "Rosenthal's disease" EXACT [DOID:2229, MTHICD9_2006:286.2]
xref: COHD:437256 {source="MONDO:equivalentTo"}
xref: DOID:2229 {source="MONDO:equivalentTo"}
xref: GARD:0009670 {source="MONDO:equivalentTo"}
xref: ICD10:D68.1 {source="ORDO:329/e", source="ORDO:329/specific", source="Orphanet:329", source="DOID:2229"}
xref: ICD9:286.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:2229"}
xref: MESH:D005173 {source="MONDO:equivalentTo", source="DOID:2229", source="MONDO:ontobio"}
xref: NCIT:C84705 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07", source="DOID:2229"}
xref: OMIM:612416 {source="ORDO:329/e", source="MONDO:equivalentTo", source="Orphanet:329", source="DOID:2229"}
xref: Orphanet:329 {source="MONDO:equivalentTo", source="OMIM:612416"}
xref: SCTID:49762007 {source="MONDO:equivalentTo", source="DOID:2229", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0015523 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84705", source="Orphanet:329", source="OMIM:612416", source="DOID:2229"}
is_a: MONDO:0000429 {source="DOID:2229", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal genetic disease
is_a: MONDO:0019039 {source="Orphanet:329"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0020587 ! factor XI deficiency
is_a: MONDO:0021181 {source="MESH:D005173", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
intersection_of: MONDO:0020587 ! factor XI deficiency
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:2229
property_value: exactMatch http://identifiers.org/mesh/D005173
property_value: exactMatch http://identifiers.org/omim/612416
property_value: exactMatch http://identifiers.org/snomedct/49762007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015523
property_value: exactMatch NCIT:C84705
property_value: exactMatch Orphanet:329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency xsd:anyURI {source="GARD:0009670"}

[Term]
id: MONDO:0012898
name: narcolepsy 4, susceptibility to
subset: predisposition
synonym: "narcolepsy 4, susceptibility to" RELATED [OMIM:612417]
synonym: "narcolepsy 4, susceptibility to; NRCLP4" RELATED [OMIM:612417]
synonym: "NRCLP4" EXACT [MONDO:Lexical, OMIM:612417]
xref: OMIM:612417 {source="MONDO:equivalentTo"}
xref: UMLS:C2676275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612417"}
is_a: MONDO:0016158 {source="DC-OMIM:612417"} ! narcolepsy-cataplexy syndrome
property_value: exactMatch http://identifiers.org/omim/612417
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676275

[Term]
id: MONDO:0012899
name: AGA3
synonym: "AGA3" EXACT [MONDO:Lexical, OMIM:612421]
synonym: "alopecia, androgenetic, 3" RELATED [MONDO:Lexical, OMIM:612421]
synonym: "alopecia, androgenetic, 3; AGA3" RELATED [OMIM:612421]
xref: MESH:C567317 {source="MONDO:equivalentTo"}
xref: OMIM:612421 {source="MONDO:equivalentTo"}
xref: UMLS:C2676272 {source="OMIM:612421", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000005 {source="DC-OMIM:612421", source="OMIM:612421"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia
property_value: exactMatch http://identifiers.org/mesh/C567317
property_value: exactMatch http://identifiers.org/omim/612421
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676272

[Term]
id: MONDO:0012900
name: cardiomyopathy, familial restrictive, 3
def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial restrictive, 3" EXACT [MONDO:Lexical, OMIM:612422]
synonym: "cardiomyopathy, familial restrictive, 3; RCM3" RELATED [OMIM:612422]
synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1, OMIM:612422]
synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "RCM3" RELATED [MONDO:Lexical, OMIM:612422]
synonym: "TNNT2 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567316 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612422 {source="MONDO:equivalentTo"}
xref: UMLS:C2676271 {source="NCBI:mim2gene_medline", source="OMIM:612422", source="MONDO:equivalentTo"}
is_a: MONDO:0019150 {source="MONDO:Redundant", source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C567316
property_value: exactMatch http://identifiers.org/omim/612422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676271

[Term]
id: MONDO:0012901
name: inherited prekallikrein deficiency
def: "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0004477"}
subset: ordo_disease {source="Orphanet:749"}
synonym: "congenital prekallikrein deficiency" EXACT [Orphanet:749]
synonym: "Fletcher Factor deficiency" RELATED [OMIM:612423]
synonym: "hereditary prekallikrein deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "PKK deficiency" RELATED [OMIM:612423]
synonym: "prekallikrein deficiency" RELATED [OMIM:612423]
synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477]
xref: GARD:0004477 {source="MONDO:equivalentTo"}
xref: ICD10:D68.8 {source="ORDO:749/attributed", source="ORDO:749/ntbt", source="Orphanet:749"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562725 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612423 {source="ORDO:749/e", source="MONDO:equivalentTo", source="Orphanet:749"}
xref: Orphanet:749 {source="OMIM:612423", source="MONDO:equivalentTo"}
is_a: MONDO:0019039 {source="Orphanet:749"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0021181 ! inherited blood coagulation disorder
is_a: MONDO:0044744 ! prekallikrein deficiency
intersection_of: MONDO:0044744 ! prekallikrein deficiency
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272339
property_value: exactMatch http://identifiers.org/mesh/C562725
property_value: exactMatch http://identifiers.org/omim/612423
property_value: exactMatch Orphanet:749
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital xsd:anyURI {source="GARD:0004477"}

[Term]
id: MONDO:0012902
name: autosomal dominant nonsyndromic deafness 27
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1." [DOID:0110556, PMID:18279434]
synonym: "autosomal dominant deafness 27" EXACT [DOID:0110556]
synonym: "autosomal dominant nonsyndromic deafness type 27" EXACT [DOID:0110556, MONDORULE:2]
synonym: "deafness, autosomal dominant 27" RELATED [MONDO:Lexical, OMIM:612431]
synonym: "deafness, autosomal dominant 27; DFNA27" RELATED [OMIM:612431]
synonym: "DFNA27" EXACT [DOID:0110556, MONDO:Lexical, OMIM:612431]
xref: DOID:0110556 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110556"}
xref: OMIM:612431 {source="DOID:0110556", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:612431", source="DOID:0110556", source="OMIM:612431"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1413996
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887929
property_value: exactMatch DOID:0110556
property_value: exactMatch http://identifiers.org/omim/612431

[Term]
id: MONDO:0012903
name: autosomal recessive nonsyndromic deafness 45
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44." [DOID:0110502, PMID:18325041]
synonym: "autosomal recessive deafness 45" EXACT [DOID:0110502]
synonym: "autosomal recessive nonsyndromic deafness type 45" EXACT [DOID:0110502, MONDORULE:2]
synonym: "deafness, autosomal recessive 45" RELATED [MONDO:Lexical, OMIM:612433]
synonym: "deafness, autosomal recessive 45; DFNB45" RELATED [OMIM:612433]
synonym: "DFNB45" EXACT [DOID:0110502, MONDO:Lexical, OMIM:612433]
xref: DOID:0110502 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110502"}
xref: OMIM:612433 {source="DOID:0110502", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:612433", source="DOID:0110502", source="OMIM:612433"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1539278
property_value: exactMatch DOID:0110502
property_value: exactMatch http://identifiers.org/omim/612433

[Term]
id: MONDO:0012904
name: epilepsy, progressive myoclonic, 1B
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, progressive myoclonic, 1B" EXACT [MONDO:Lexical, OMIM:612437]
synonym: "epilepsy, progressive myoclonic, 1B; EPM1B" RELATED [OMIM:612437]
synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4, OMIM:612437]
synonym: "EPM1B" RELATED [MONDO:Lexical, OMIM:612437]
synonym: "PRICKLE1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE1" EXACT [MONDO:design_pattern]
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580388 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612437 {source="MONDO:equivalentTo"}
xref: SCTID:702326000 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C2676254 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612437"}
is_a: MONDO:0020074 {source="MESH:C580388", source="MONDO:Redundant", source="OMIM:612437", source="indirect", source="linkedlifedata"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C580388
property_value: exactMatch http://identifiers.org/omim/612437
property_value: exactMatch http://identifiers.org/snomedct/702326000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676254

[Term]
id: MONDO:0012905
name: hypomyelinating leukodystrophy 6
def: "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." [Orphanet:139441]
subset: ordo_disease {source="Orphanet:139441"}
synonym: "H-ABC" EXACT [DOID:0060798, Orphanet:139441]
synonym: "HABC" EXACT [DOID:0060798]
synonym: "HLD6" EXACT [DOID:0060798, MONDO:Lexical, OMIM:612438]
synonym: "hypomyelinating leukodystrophy type 6" EXACT [DOID:0060798, MONDORULE:1]
synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [DOID:0060798]
synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [DOID:0060798]
synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical, OMIM:612438]
synonym: "leukodystrophy, hypomyelinating, 6; HLD6" RELATED [OMIM:612438]
synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:612438]
synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438]
xref: DOID:0060798 {source="MONDO:equivalentTo"}
xref: GARD:0010917 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:139441/attributed", source="ORDO:139441/ntbt", source="DOID:0060798", source="Orphanet:139441"}
xref: MESH:C567314 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612438 {source="DOID:0060798", source="MONDO:equivalentTo", source="ORDO:139441/e", source="Orphanet:139441"}
xref: Orphanet:139441 {source="DOID:0060798", source="MONDO:equivalentTo", source="OMIM:612438"}
xref: UMLS:C2676244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612438"}
is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy
property_value: exactMatch DOID:0060798
property_value: exactMatch http://identifiers.org/mesh/C567314
property_value: exactMatch http://identifiers.org/omim/612438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676244
property_value: exactMatch Orphanet:139441

[Term]
id: MONDO:0012906
name: primary ciliary dyskinesia 9
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD9" EXACT [DOID:0110622, MONDO:Lexical, OMIM:612444]
synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical, OMIM:612444]
synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [OMIM:612444]
synonym: "ciliary dyskinesia, primary, 9; CILD9" RELATED [OMIM:612444]
synonym: "ciliary dyskinesia, primary, type 9" EXACT [MONDORULE:1, OMIM:612444]
synonym: "DNAI2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [DOID:0110622]
synonym: "primary ciliary dyskinesia caused by mutation in DNAI2" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 9" EXACT [DOID:0110622, MONDORULE:1]
xref: DOID:0110622 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110622"}
xref: MESH:C567310 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612444 {source="DOID:0110622", source="MONDO:equivalentTo"}
xref: UMLS:C2676235 {source="NCBI:mim2gene_medline", source="OMIM:612444", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:612444", source="DOID:0110622", source="MESH:C567310", source="MESH:C567310/inferred", source="MONDO:Redundant", source="MONDOLEX:0012906", source="OMIM:612444"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110622
property_value: exactMatch http://identifiers.org/mesh/C567310
property_value: exactMatch http://identifiers.org/omim/612444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676235

[Term]
id: MONDO:0012907
name: blindness - scoliosis - arachnodactyly syndrome
def: "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." [Orphanet:171844]
subset: ordo_malformation_syndrome {source="Orphanet:171844"}
synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445]
xref: MESH:C567309 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612445 {source="MONDO:equivalentTo", source="Orphanet:171844", source="ORDO:171844/e"}
xref: Orphanet:171844 {source="OMIM:612445", source="MONDO:equivalentTo"}
xref: SCTID:717920004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C2676234 {source="OMIM:612445", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171844"}
is_a: MONDO:0005328 {source="Orphanet:171844"} ! eye disease
is_a: MONDO:0015332 {source="Orphanet:171844"} ! rare developmental defect with connective tissue involvement
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C567309
property_value: exactMatch http://identifiers.org/omim/612445
property_value: exactMatch http://identifiers.org/snomedct/717920004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676234
property_value: exactMatch Orphanet:171844

[Term]
id: MONDO:0012908
name: complement component 6 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C6 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C6 deficiency" RELATED [OMIM:612446]
synonym: "C6 deficiency, subtotal" RELATED [OMIM:612446]
synonym: "C6D" RELATED [MONDO:Lexical, OMIM:612446]
synonym: "classic complement early component deficiency caused by mutation in C6" EXACT [MONDO:design_pattern]
synonym: "complement component 6 deficiency" EXACT [MONDO:Lexical, OMIM:612446]
synonym: "complement component 6 deficiency, subtotal" RELATED [OMIM:612446]
synonym: "complement component 6 deficiency; C6D" RELATED [OMIM:612446]
xref: DOID:0060299 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060299"}
xref: OMIM:612446 {source="DOID:0060299", source="MONDO:equivalentTo"}
xref: UMLS:C2676232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612446"}
is_a: MONDO:0000015 {source="DC-OMIM:612446", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676233
property_value: exactMatch DOID:0060299
property_value: exactMatch http://identifiers.org/omim/612446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676232

[Term]
id: MONDO:0012909
name: skeletal defects, genital hypoplasia, and mental retardation
synonym: "skeletal defects, genital hypoplasia, and mental retardation" EXACT [OMIM:612447]
xref: MESH:C567306 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612447 {source="MONDO:equivalentTo"}
xref: UMLS:C2676231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612447"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567306
property_value: exactMatch http://identifiers.org/omim/612447
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676231

[Term]
id: MONDO:0012910
name: age-related hearing impairment 1
synonym: "age-related hearing impairment 1" RELATED [MONDO:Lexical, OMIM:612448]
synonym: "age-related hearing impairment 1; ARHI1" RELATED [OMIM:612448]
synonym: "ARHI1" EXACT [MONDO:Lexical, OMIM:612448]
synonym: "presbycusis 1" RELATED [OMIM:612448]
xref: MESH:C567305 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612448 {source="MONDO:equivalentTo"}
xref: UMLS:C2676230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612448"}
is_a: MONDO:0005562 {source="DC-OMIM:612448", source="MONDOLEX:0012910"} ! age-related hearing impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: exactMatch http://identifiers.org/mesh/C567305
property_value: exactMatch http://identifiers.org/omim/612448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2676230

[Term]
id: MONDO:0012911
name: pseudohypoparathyroidism type 1C
def: "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)." [Orphanet:79444]
subset: gard_rare {source="GARD:0010681"}
subset: ordo_disease {source="Orphanet:79444"}
synonym: "Php 1C" RELATED [OMIM:612462]
synonym: "PHP1C" RELATED [MONDO:Lexical, OMIM:612462]
synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462]
synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462]
synonym: "pseudohypoparathyroidism, type IC; PHP1C" RELATED [OMIM:612462]
xref: GARD:0010681 {source="MONDO:equivalentTo"}
xref: ICD10:E20.1 {source="MONDO:subClassOf", source="ORDO:79444/attributed", source="ORDO:79444/ntbt", source="Orphanet:79444"}
xref: MESH:C548076 {source="MONDO:equivalentTo", source="ORDO:79444/e", source="MONDO:ontobio", source="Orphanet:79444"}
xref: OMIM:612462 {source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"}
xref: Orphanet:79444 {source="OMIM:612462", source="MONDO:equivalentTo"}
xref: SCTID:717792007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2932716 {source="OMIM:612462", source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"}
is_a: MONDO:0018379 {source="Orphanet:79444"} ! primary avascular necrosis
is_a: MONDO:0018384 ! avascular necrosis of genetic origin
is_a: MONDO:0018699 {source="Orphanet:79444"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675910
property_value: exactMatch http://identifiers.org/mesh/C548076
property_value: exactMatch http://identifiers.org/omim/612462
property_value: exactMatch http://identifiers.org/snomedct/717792007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932716
property_value: exactMatch Orphanet:79444
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c xsd:anyURI {source="GARD:0010681"}

[Term]
id: MONDO:0012912
name: pseudopseudohypoparathyroidism
def: "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)." [Orphanet:79445]
subset: gard_rare {source="GARD:0007860"}
subset: ordo_disease {source="Orphanet:79445"}
synonym: "aho-PPHP syndrome" EXACT [Orphanet:79445]
synonym: "Albright Hereditary osteodystrophy with Multiple hormone Resistance" EXACT [NCIT:C129722]
synonym: "Albright hereditary osteodystrophy without multiple hormone resistance" RELATED [OMIM:612463]
synonym: "Albright hereditary osteodystrophy-PPHP syndrome" EXACT [Orphanet:79445]
synonym: "Normocalcemic pseudohypoparathyroidism" EXACT [DOID:4183]
synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" EXACT [DOID:4183]
synonym: "PPHP" RELATED [MONDO:Lexical, OMIM:612463]
synonym: "pseudo-pseudohypoparathyroidism" RELATED [GARD:0007860]
synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860]
synonym: "pseudopseudohypoparathyroidism" EXACT [MONDO:Lexical, OMIM:612463]
synonym: "pseudopseudohypoparathyroidism; PPHP" RELATED [OMIM:612463]
xref: DOID:4183 {source="MONDO:equivalentTo"}
xref: GARD:0007860 {source="MONDO:equivalentTo"}
xref: ICD10:E20.1 {source="MONDO:subClassOf", source="ORDO:79445/attributed", source="ORDO:79445/ntbt", source="Orphanet:79445"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011556 {source="MONDO:equivalentTo", source="DOID:4183", source="MONDO:ontobio", source="ORDO:79445/e", source="Orphanet:79445"}
xref: NCIT:C129722 {source="MONDO:kboom-pr-0.77/0.40/0.68", source="MONDO:equivalentTo"}
xref: OMIM:612463 {source="MONDO:equivalentTo", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"}
xref: Orphanet:665 {source="OMIM:612463", source="MONDO:equivalentObsolete"}
xref: Orphanet:79445 {source="OMIM:612463", source="MONDO:equivalentTo"}
xref: SCTID:237659007 {source="MONDO:equivalentTo", source="DOID:4183", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0033835 {source="OMIM:612463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129722", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"}
is_a: MONDO:0018699 {source="Orphanet:79445"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy
property_value: closeMatch http://identifiers.org/snomedct/190867002
property_value: closeMatch http://identifiers.org/snomedct/8084001
property_value: exactMatch DOID:4183
property_value: exactMatch http://identifiers.org/mesh/D011556
property_value: exactMatch http://identifiers.org/omim/612463
property_value: exactMatch http://identifiers.org/snomedct/237659007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033835
property_value: exactMatch NCIT:C129722
property_value: exactMatch Orphanet:665
property_value: exactMatch Orphanet:79445
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism xsd:anyURI {source="GARD:0007860"}

[Term]
id: MONDO:0012913
name: Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome
def: "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." [NCIT:P378]
synonym: "chromosome 11P13-p12 deletion syndrome" RELATED [OMIM:612469]
synonym: "WAGR syndrome with obesity" RELATED [OMIM:612469]
synonym: "WAGRO" RELATED [MONDO:Lexical, OMIM:612469]
synonym: "Wagro syndrome" RELATED [OMIM:612469]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" EXACT [MONDO:Lexical, OMIM:612469]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome; WAGRO" RELATED [OMIM:612469]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome" EXACT [NCIT:C122804]
xref: MESH:C567292 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122804 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:612469 {source="MONDO:equivalentTo"}
xref: UMLS:C2675904 {source="NCIT:C122804", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612469"}
is_a: MONDO:0008681 {source="MESH:C567292", source="ORDO:893/btnt"} ! WAGR syndrome
property_value: exactMatch http://identifiers.org/mesh/C567292
property_value: exactMatch http://identifiers.org/omim/612469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675904
property_value: exactMatch NCIT:C122804

[Term]
id: MONDO:0012914
name: chromosome 1q21.1 deletion syndrome
def: "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." [Orphanet:250989]
subset: ordo_malformation_syndrome {source="Orphanet:250989"}
synonym: "1q21.1 microdeletion" RELATED [GARD:0010813]
synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411]
synonym: "chromosome 1q21.1 deletion syndrome, 1.35-MB" RELATED [OMIM:612474]
synonym: "chromosome 1q21.1 microdeletion syndrome" RELATED [GARD:0010813]
synonym: "Del(1)(q21)" EXACT [Orphanet:250989]
synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989]
xref: DOID:0060411 {source="MONDO:equivalentTo"}
xref: GARD:0010813 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="DOID:0060411", source="ORDO:250989/attributed", source="ORDO:250989/ntbt", source="Orphanet:250989"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:612474 {source="DOID:0060411", source="MONDO:equivalentTo", source="Orphanet:250989", source="ORDO:250989/e"}
xref: Orphanet:250989 {source="OMIM:612474", source="DOID:0060411", source="MONDO:equivalentTo"}
xref: SCTID:699305004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.80/0.44/0.91"}
is_a: MONDO:0000761 {source="DC-OMIM:612474", source="DOID:0060411"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016900 {source="Orphanet:250989"} ! partial deletion of the long arm of chromosome 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675897
property_value: exactMatch DOID:0060411
property_value: exactMatch http://identifiers.org/omim/612474
property_value: exactMatch http://identifiers.org/snomedct/699305004
property_value: exactMatch Orphanet:250989

[Term]
id: MONDO:0012915
name: chromosome 1q21.1 duplication syndrome
def: "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." [https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome]
subset: gard_rare {source="GARD:0010591"}
subset: ordo_malformation_syndrome {source="Orphanet:250994"}
synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435]
synonym: "chromosome 1q21.1 duplication syndrome" EXACT [OMIM:612475]
synonym: "dup(1)(q21.1)" EXACT [Orphanet:250994]
synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994]
xref: DOID:0060435 {source="MONDO:equivalentTo"}
xref: GARD:0010591 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:250994/attributed", source="ORDO:250994/ntbt", source="DOID:0060435", source="Orphanet:250994"}
xref: MESH:C567290 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="ORDO:250994/e"}
xref: Orphanet:250994 {source="OMIM:612475", source="DOID:0060435", source="MONDO:equivalentTo"}
xref: UMLS:C2675891 {source="MEDGEN:kboom-pr98-c99", source="OMIM:612475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:250994"}
is_a: MONDO:0000762 {source="DC-OMIM:612475", source="DOID:0060435"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016952 {source="Orphanet:250994"} ! partial duplication of the long arm of chromosome 1
property_value: exactMatch DOID:0060435
property_value: exactMatch http://identifiers.org/mesh/C567290
property_value: exactMatch http://identifiers.org/omim/612475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675891
property_value: exactMatch Orphanet:250994
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome xsd:anyURI {source="GARD:0010591"}

[Term]
id: MONDO:0012916
name: chromosome 2p16.1-p15 deletion syndrome
def: "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261349]
subset: ordo_malformation_syndrome {source="Orphanet:261349"}
synonym: "2p15-p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349]
synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415]
synonym: "chromosome 2p16.1-p15 deletion syndrome" EXACT [OMIM:612513]
synonym: "Del(2)(p15p16.1)" EXACT [Orphanet:261349]
synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349]
synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349]
xref: DOID:0060415 {source="MONDO:equivalentTo"}
xref: GARD:0013391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="DOID:0060415", source="Orphanet:261349", source="ORDO:261349/attributed", source="ORDO:261349/ntbt"}
xref: MESH:C567289 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612513 {source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349", source="ORDO:261349/e"}
xref: Orphanet:261349 {source="MONDO:equivalentTo", source="OMIM:612513", source="DOID:0060415"}
xref: SCTID:719651000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2675875 {source="MEDGEN:kboom-pr98-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612513", source="Orphanet:261349"}
xref: UMLS:C4304538 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612513", source="DOID:0060415"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016884 {source="Orphanet:261349"} ! partial deletion of the short arm of chromosome 2
property_value: exactMatch DOID:0060415
property_value: exactMatch http://identifiers.org/mesh/C567289
property_value: exactMatch http://identifiers.org/omim/612513
property_value: exactMatch http://identifiers.org/snomedct/719651000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304538
property_value: exactMatch Orphanet:261349

[Term]
id: MONDO:0012917
name: specific language impairment 4
synonym: "SLI4" EXACT [MONDO:Lexical, OMIM:612514]
synonym: "specific language impairment 4" RELATED [OMIM:612514]
synonym: "specific language impairment 4; SLI4" RELATED [OMIM:612514]
xref: MESH:C567288 {source="MONDO:equivalentTo"}
xref: OMIM:612514 {source="MONDO:equivalentTo"}
xref: UMLS:C2675874 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612514"}
is_a: MONDO:0000724 {source="DC-OMIM:612514", source="OMIM:612514"} ! specific language impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C567288
property_value: exactMatch http://identifiers.org/omim/612514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675874

[Term]
id: MONDO:0012918
name: primary ciliary dyskinesia 10
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD10" EXACT [DOID:0110612, MONDO:Lexical, OMIM:612518]
synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical, OMIM:612518]
synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [OMIM:612518]
synonym: "ciliary dyskinesia, primary, 10; CILD10" RELATED [OMIM:612518]
synonym: "ciliary dyskinesia, primary, type 10" EXACT [MONDORULE:2, OMIM:612518]
synonym: "DNAAF2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [DOID:0110612]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF2" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 10" EXACT [DOID:0110612, MONDORULE:2]
xref: DOID:0110612 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110612"}
xref: MESH:C567287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612518 {source="DOID:0110612", source="MONDO:equivalentTo"}
xref: UMLS:C2675867 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612518"}
is_a: MONDO:0016575 {source="DC-OMIM:612518", source="DOID:0110612", source="MESH:C567287", source="MONDO:Redundant", source="MONDOLEX:0012918", source="OMIM:612518"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110612
property_value: exactMatch http://identifiers.org/mesh/C567287
property_value: exactMatch http://identifiers.org/omim/612518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675867

[Term]
id: MONDO:0012919
name: type 1 diabetes mellitus 20
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical, OMIM:612520]
synonym: "diabetes mellitus, insulin-dependent, 20; IDDM20" RELATED [OMIM:612520]
synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2, OMIM:612520]
synonym: "HNF1A type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IDDM20" EXACT [DOID:0110757, MONDO:Lexical, OMIM:612520]
synonym: "insulin-dependent diabetes mellitus 20" EXACT [DOID:0110757]
synonym: "type 1 diabetes mellitus caused by mutation in HNF1A" EXACT [MONDO:design_pattern]
xref: DOID:0110757 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110757"}
xref: MESH:C567286 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612520 {source="DOID:0110757", source="MONDO:equivalentTo"}
xref: UMLS:C2675866 {source="OMIM:612520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:612520", source="DOID:0110757", source="MESH:C567286", source="MONDO:Redundant", source="MONDOLEX:0012919"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110757
property_value: exactMatch http://identifiers.org/mesh/C567286
property_value: exactMatch http://identifiers.org/omim/612520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675866

[Term]
id: MONDO:0012920
name: type 1 diabetes mellitus 21
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25." [DOID:0110758, PMID:19073967]
synonym: "diabetes mellitus, insulin-dependent, 21" RELATED [MONDO:Lexical, OMIM:612521]
synonym: "diabetes mellitus, insulin-dependent, 21; IDDM21" RELATED [OMIM:612521]
synonym: "IDDM21" EXACT [DOID:0110758, MONDO:Lexical, OMIM:612521]
synonym: "insulin-dependent diabetes mellitus 21" EXACT [DOID:0110758]
xref: DOID:0110758 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110758"}
xref: MESH:C567285 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612521 {source="DOID:0110758", source="MONDO:equivalentTo"}
xref: UMLS:C2675865 {source="NCBI:mim2gene_medline", source="OMIM:612521", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:612521", source="DOID:0110758", source="MESH:C567285", source="MONDOLEX:0012920"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110758
property_value: exactMatch http://identifiers.org/mesh/C567285
property_value: exactMatch http://identifiers.org/omim/612521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675865

[Term]
id: MONDO:0012921
name: type 1 diabetes mellitus 22
def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCR5 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 22" RELATED [MONDO:Lexical, OMIM:612522]
synonym: "diabetes mellitus, insulin-dependent, 22; IDDM22" RELATED [OMIM:612522]
synonym: "diabetes mellitus, insulin-dependent, type 22" EXACT [MONDORULE:2, OMIM:612522]
synonym: "IDDM22" EXACT [DOID:0110759, MONDO:Lexical, OMIM:612522]
synonym: "insulin-dependent diabetes mellitus 22" EXACT [DOID:0110759]
synonym: "type 1 diabetes mellitus caused by mutation in CCR5" EXACT [MONDO:design_pattern]
xref: DOID:0110759 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110759"}
xref: MESH:C567284 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612522 {source="MONDO:equivalentTo", source="DOID:0110759"}
xref: UMLS:C2675864 {source="OMIM:612522", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:612522", source="DOID:0110759", source="MESH:C567284", source="MONDO:Redundant", source="MONDOLEX:0012921"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110759
property_value: exactMatch http://identifiers.org/mesh/C567284
property_value: exactMatch http://identifiers.org/omim/612522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675864

[Term]
id: MONDO:0012922
name: infantile hypertrophic pyloric stenosis type 5
synonym: "IHPS5" EXACT [MONDO:Lexical, OMIM:612525]
synonym: "pyloric stenosis, infantile hypertrophic, 5" RELATED [MONDO:Lexical, OMIM:612525]
synonym: "pyloric stenosis, infantile hypertrophic, 5; IHPS5" RELATED [OMIM:612525]
xref: MESH:C567283 {source="MONDO:equivalentTo"}
xref: OMIM:612525 {source="MONDO:equivalentTo"}
xref: UMLS:C2675862 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612525"}
is_a: MONDO:0001560 {source="DC-OMIM:612525", source="MESH:C567283", source="MONDOLEX:0012922", source="OMIM:612525"} ! hypertrophic pyloric stenosis
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567283
property_value: exactMatch http://identifiers.org/omim/612525
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675862

[Term]
id: MONDO:0012923
name: congenital generalized lipodystrophy type 3
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0013389"}
synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [DOID:0111137]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [OMIM:612526]
synonym: "BSCL3" EXACT [DOID:0111137]
synonym: "CAV1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CGL3" EXACT [DOID:0111137, MONDO:Lexical, OMIM:612526]
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAV1" EXACT []
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [OMIM:612526]
synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical, OMIM:612526]
synonym: "lipodystrophy, congenital generalized, type 3; CGL3" RELATED [OMIM:612526]
synonym: "type 3 Berardinelli-Seip congenital lipodystrophy" RELATED [GARD:0013389]
xref: DOID:0111137 {source="MONDO:equivalentTo"}
xref: GARD:0013389 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="DOID:0111137"}
xref: MESH:C567282 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612526 {source="MONDO:equivalentTo", source="DOID:0111137"}
xref: UMLS:C2675861 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612526"}
is_a: MONDO:0006536 {source="DC-OMIM:612526", source="DOID:0111137", source="MONDO:Redundant", source="MONDOLEX:0012923", source="OMIM:612526"} ! congenital generalized lipodystrophy (disease)
is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
property_value: exactMatch DOID:0111137
property_value: exactMatch http://identifiers.org/mesh/C567282
property_value: exactMatch http://identifiers.org/omim/612526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675861
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 xsd:anyURI {source="GARD:0013389"}

[Term]
id: MONDO:0012924
name: Diamond-Blackfan anemia 4
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA4" RELATED [MONDO:Lexical, OMIM:612527]
synonym: "Diamond-Blackfan anemia 4" EXACT [MONDO:Lexical, OMIM:612527]
synonym: "Diamond-Blackfan anemia 4; DBA4" RELATED [OMIM:612527]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS17" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527]
synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567281 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612527 {source="MONDO:equivalentTo"}
xref: UMLS:C2675860 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612527"}
is_a: MONDO:0015253 {source="DC-OMIM:612527", source="MESH:C567281", source="MONDO:Redundant", source="MONDOLEX:0012924", source="OMIM:612527"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567281
property_value: exactMatch http://identifiers.org/omim/612527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675860

[Term]
id: MONDO:0012925
name: Diamond-Blackfan anemia 5
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA5" RELATED [MONDO:Lexical, OMIM:612528]
synonym: "Diamond-Blackfan anemia 5" EXACT [MONDO:Lexical, OMIM:612528]
synonym: "Diamond-Blackfan anemia 5; DBA5" RELATED [OMIM:612528]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL35A" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528]
synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567280 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612528 {source="MONDO:equivalentTo"}
xref: UMLS:C2675859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612528"}
is_a: MONDO:0015253 {source="DC-OMIM:612528", source="MESH:C567280", source="MONDO:Redundant", source="MONDOLEX:0012925", source="OMIM:612528"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567280
property_value: exactMatch http://identifiers.org/omim/612528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675859

[Term]
id: MONDO:0012926
name: amelogenesis imperfecta hypomaturation type 2A2
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI2A2" EXACT [DOID:0110060, MONDO:Lexical, OMIM:612529]
synonym: "amelogenesis imperfecta caused by mutation in MMP20" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta pigmented hypomaturation type 2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta type IIA2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA2" RELATED [MONDO:Lexical, OMIM:612529]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2" RELATED [OMIM:612529]
synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [OMIM:612529]
synonym: "MMP20 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110060 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110060"}
xref: MESH:C567279 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612529 {source="DOID:0110060", source="MONDO:equivalentTo"}
xref: UMLS:C2675858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612529"}
is_a: MONDO:0015048 {source="MONDOLEX:0012926", source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: exactMatch DOID:0110060
property_value: exactMatch http://identifiers.org/mesh/C567279
property_value: exactMatch http://identifiers.org/omim/612529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675858

[Term]
id: MONDO:0012927
name: chromosome 1q41-q42 deletion syndrome
def: "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." [Orphanet:250999]
subset: gard_rare {source="GARD:0003738"}
subset: ordo_malformation_syndrome {source="Orphanet:250999"}
synonym: "1q41-q42 deletion syndrome" RELATED [GARD:0003738]
synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999]
synonym: "1q41q42 microdeletion syndrome" EXACT [DOID:0060412]
synonym: "chromosome 1q41-q42 deletion syndrome" EXACT [OMIM:612530]
synonym: "Del(1)(q41q42)" EXACT [Orphanet:250999]
synonym: "deletion 1q41-q42" RELATED [GARD:0003738]
synonym: "holoprosencephaly 10" RELATED [OMIM:612530]
synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999]
synonym: "monosomy 1q41q42" EXACT [Orphanet:250999]
xref: DOID:0060412 {source="MONDO:equivalentTo"}
xref: GARD:0003738 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="DOID:0060412", source="ORDO:250999/attributed", source="ORDO:250999/ntbt", source="Orphanet:250999"}
xref: OMIM:612530 {source="MONDO:equivalentTo", source="DOID:0060412", source="ORDO:250999/e", source="Orphanet:250999"}
xref: Orphanet:250999 {source="OMIM:612530", source="MONDO:equivalentTo", source="DOID:0060412"}
xref: SCTID:716515000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
xref: UMLS:C2675857 {source="MEDGEN:kboom-pr98-c98", source="OMIM:612530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4274528 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612530", source="DOID:0060412"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016296 {source="DC-OMIM:612530", source="OMIM:612530"} ! holoprosencephaly
is_a: MONDO:0016900 {source="Orphanet:250999"} ! partial deletion of the long arm of chromosome 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931584
property_value: exactMatch DOID:0060412
property_value: exactMatch http://identifiers.org/omim/612530
property_value: exactMatch http://identifiers.org/snomedct/716515000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274528
property_value: exactMatch Orphanet:250999
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome xsd:anyURI {source="GARD:0003738"}

[Term]
id: MONDO:0012928
name: hereditary spastic paraplegia 42
def: "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." [Orphanet:171863]
subset: ordo_disease {source="Orphanet:171863"}
synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794]
synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794]
synonym: "hereditary spastic paraplegia type 42" EXACT [DOID:0110794, MONDORULE:2]
synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539]
synonym: "spastic paraplegia 42, autosomal dominant; SPG42" RELATED [OMIM:612539]
synonym: "SPG42" EXACT [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863]
xref: DOID:0110794 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:171863/attributed", source="ORDO:171863/ntbt", source="DOID:0110794", source="Orphanet:171863"}
xref: MESH:C567262 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612539 {source="MONDO:equivalentTo", source="ORDO:171863/e", source="DOID:0110794", source="Orphanet:171863"}
xref: Orphanet:171863 {source="MONDO:equivalentTo", source="OMIM:612539", source="DOID:0110794"}
xref: SCTID:763070001 {source="MONDO:equivalentTo"}
xref: UMLS:C2675528 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612539", source="ORDO:171863/e", source="Orphanet:171863"}
is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:171863"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110794
property_value: exactMatch http://identifiers.org/mesh/C567262
property_value: exactMatch http://identifiers.org/omim/612539
property_value: exactMatch http://identifiers.org/snomedct/763070001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675528
property_value: exactMatch Orphanet:171863

[Term]
id: MONDO:0012929
name: Compton-North congenital myopathy
subset: ordo_disease {source="Orphanet:210163"}
synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:210163]
synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540]
synonym: "myopathy, congenital, Compton-NORTH; MYPCN" RELATED [OMIM:612540]
synonym: "MYPCN" RELATED [MONDO:Lexical, OMIM:612540]
xref: DOID:0080101 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:210163/attributed", source="ORDO:210163/ntbt", source="Orphanet:210163"}
xref: MESH:C567261 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612540 {source="DOID:0080101", source="MONDO:equivalentTo", source="Orphanet:210163", source="ORDO:210163/e"}
xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"}
xref: UMLS:C2675527 {source="OMIM:612540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="Orphanet:210163"} ! congenital myopathy
property_value: exactMatch DOID:0080101
property_value: exactMatch http://identifiers.org/mesh/C567261
property_value: exactMatch http://identifiers.org/omim/612540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675527
property_value: exactMatch Orphanet:210163

[Term]
id: MONDO:0012930
name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
subset: ordo_disease {source="Orphanet:331176"}
synonym: "Dursun syndrome" RELATED [OMIM:612541]
synonym: "neutropenia, severe congenital, 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612541]
synonym: "neutropenia, severe congenital, 4, autosomal recessive; SCN4" RELATED [OMIM:612541]
synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" RELATED [OMIM:612541]
synonym: "SCN4" EXACT [MONDO:Lexical, OMIM:612541, Orphanet:331176]
synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176]
synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176]
xref: ICD10:D70 {source="MONDO:subClassOf", source="Orphanet:331176", source="ORDO:331176/attributed", source="ORDO:331176/ntbt"}
xref: OMIM:612541 {source="Orphanet:331176", source="ORDO:331176/e", source="MONDO:equivalentTo"}
xref: Orphanet:331176 {source="OMIM:612541", source="MONDO:equivalentTo"}
xref: UMLS:C2675526 {source="Orphanet:331176", source="OMIM:612541", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751630
property_value: closeMatch Orphanet:178503
property_value: exactMatch http://identifiers.org/omim/612541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675526
property_value: exactMatch Orphanet:331176

[Term]
id: MONDO:0012931
name: focal segmental glomerulosclerosis 4, susceptibility to
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "APOL1 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [OMIM:612551]
synonym: "focal segmental glomerulosclerosis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:612551]
synonym: "focal segmental glomerulosclerosis 4, susceptibility to; FSGS4" RELATED [OMIM:612551]
synonym: "focal segmental glomerulosclerosis caused by mutation in APOL1" EXACT [MONDO:design_pattern]
synonym: "FSGS4" RELATED [MONDO:Lexical, OMIM:612551]
synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [OMIM:612551]
xref: OMIM:612551 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005363 ! focal segmental glomerulosclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675525
property_value: exactMatch http://identifiers.org/omim/612551

[Term]
id: MONDO:0012932
name: MYP16
synonym: "myopia 16, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612554]
synonym: "myopia 16, autosomal dominant; MYP16" RELATED [OMIM:612554]
synonym: "MYP16" EXACT [MONDO:Lexical, OMIM:612554]
xref: MESH:C567259 {source="MONDO:equivalentTo"}
xref: OMIM:612554 {source="MONDO:equivalentTo"}
xref: UMLS:C2675523 {source="NCBI:mim2gene_medline", source="OMIM:612554", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:612554", source="MESH:C567259", source="OMIM:612554"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567259
property_value: exactMatch http://identifiers.org/omim/612554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675523

[Term]
id: MONDO:0012933
name: breast-ovarian cancer, familial, susceptibility to, 2
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555]
synonym: "breast-ovarian cancer, familial, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612555]
synonym: "breast-ovarian cancer, familial, susceptibility to, 2; BROVCA2" RELATED [OMIM:612555]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612555]
synonym: "BROVCA2" RELATED [MONDO:Lexical, OMIM:612555]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555]
synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555]
xref: OMIM:612555 {source="MONDO:equivalentTo"}
is_a: MONDO:0003582 {source="DC-OMIM:612555", source="MONDO:Redundant", source="OMIM:612555", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675520
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675521
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675522
property_value: exactMatch http://identifiers.org/omim/612555

[Term]
id: MONDO:0012934
name: leukemia, chronic lymphocytic, susceptibility to, 3
subset: predisposition
synonym: "Clls3" RELATED [OMIM:612557]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 3" EXACT [OMIM:612557]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612557]
xref: OMIM:612557 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="MONDO:cjm"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675516
property_value: exactMatch http://identifiers.org/omim/612557

[Term]
id: MONDO:0012935
name: leukemia, chronic lymphocytic, susceptibility to, 4
subset: predisposition
synonym: "Clls4" RELATED [OMIM:612558]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 4" EXACT [OMIM:612558]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612558]
xref: OMIM:612558 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="MONDO:cjm"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675515
property_value: exactMatch http://identifiers.org/omim/612558

[Term]
id: MONDO:0012936
name: leukemia, chronic lymphocytic, susceptibility to, 5
subset: predisposition
synonym: "Clls5" RELATED [OMIM:612559]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 5" EXACT [OMIM:612559]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612559]
xref: OMIM:612559 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="MONDO:cjm"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="MONDO:cjm"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675514
property_value: exactMatch http://identifiers.org/omim/612559

[Term]
id: MONDO:0012937
name: Diamond-Blackfan anemia 6
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561]
synonym: "DBA6" RELATED [MONDO:Lexical, OMIM:612561]
synonym: "Diamond-Blackfan anemia 6" EXACT [MONDO:Lexical, OMIM:612561]
synonym: "Diamond-Blackfan anemia 6; DBA6" RELATED [OMIM:612561]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL5" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561]
synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:612561 {source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:612561", source="MONDO:Redundant", source="MONDOLEX:0012937", source="OMIM:612561"} ! Diamond-Blackfan anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931850
property_value: exactMatch http://identifiers.org/omim/612561

[Term]
id: MONDO:0012938
name: Diamond-Blackfan anemia 7
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA7" RELATED [MONDO:Lexical, OMIM:612562]
synonym: "Diamond-Blackfan anemia 7" EXACT [MONDO:Lexical, OMIM:612562]
synonym: "Diamond-Blackfan anemia 7; DBA7" RELATED [OMIM:612562]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL11" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562]
synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567254 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612562 {source="MONDO:equivalentTo"}
xref: UMLS:C2675512 {source="OMIM:612562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:612562", source="MESH:C567254", source="MONDO:Redundant", source="MONDOLEX:0012938", source="OMIM:612562"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567254
property_value: exactMatch http://identifiers.org/omim/612562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675512

[Term]
id: MONDO:0012939
name: Diamond-Blackfan anemia 8
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA8" RELATED [MONDO:Lexical, OMIM:612563]
synonym: "Diamond-Blackfan anemia 8" EXACT [MONDO:Lexical, OMIM:612563]
synonym: "Diamond-Blackfan anemia 8; DBA8" RELATED [OMIM:612563]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS7" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563]
synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567253 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612563 {source="MONDO:equivalentTo"}
xref: UMLS:C2675511 {source="OMIM:612563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:612563", source="MESH:C567253", source="MONDO:Redundant", source="MONDOLEX:0012939", source="OMIM:612563"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567253
property_value: exactMatch http://identifiers.org/omim/612563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675511

[Term]
id: MONDO:0012940
name: inflammatory bowel disease 24
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13." [DOID:0110908, PMID:18758464]
synonym: "IBD24" EXACT [DOID:0110908, MONDO:Lexical, OMIM:612566]
synonym: "inflammatory bowel disease 24" EXACT [MONDO:Lexical, OMIM:612566]
synonym: "inflammatory bowel disease 24; IBD24" RELATED [OMIM:612566]
synonym: "inflammatory bowel disease type 24" EXACT [DOID:0110908, MONDORULE:2]
xref: DOID:0110908 {source="MONDO:equivalentTo"}
xref: MESH:C567252 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612566 {source="MONDO:equivalentTo", source="DOID:0110908"}
xref: UMLS:C2675509 {source="OMIM:612566", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612566", source="DOID:0110908", source="MESH:C567252", source="OMIM:612566"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110908
property_value: exactMatch http://identifiers.org/mesh/C567252
property_value: exactMatch http://identifiers.org/omim/612566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675509

[Term]
id: MONDO:0012941
name: inflammatory bowel disease 25
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909]
synonym: "IBD25" EXACT [DOID:0110909, MONDO:Lexical, OMIM:612567]
synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612567]
synonym: "inflammatory bowel disease 25, autosomal recessive; IBD25" RELATED [OMIM:612567]
synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567]
xref: DOID:0110909 {source="MONDO:equivalentTo"}
xref: MESH:C567251 {source="MONDO:equivalentTo"}
xref: OMIM:612567 {source="MONDO:equivalentTo", source="DOID:0110909"}
xref: UMLS:C2675508 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612567"}
is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
property_value: exactMatch DOID:0110909
property_value: exactMatch http://identifiers.org/mesh/C567251
property_value: exactMatch http://identifiers.org/omim/612567
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675508

[Term]
id: MONDO:0012942
name: LNCR3
synonym: "adenocarcinoma of lung, susceptibility to" RELATED [OMIM:612571]
synonym: "LNCR3" EXACT [MONDO:Lexical, OMIM:612571]
synonym: "lung cancer susceptibility 3" RELATED [MONDO:Lexical, OMIM:612571]
synonym: "lung cancer susceptibility 3; LNCR3" RELATED [OMIM:612571]
xref: OMIM:612571 {source="MONDO:equivalentTo"}
xref: UMLS:C2675497 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612571"}
is_a: MONDO:0008903 {source="DC-OMIM:612571", source="MONDOLEX:0012942"} ! lung cancer
property_value: exactMatch http://identifiers.org/omim/612571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675497

[Term]
id: MONDO:0012943
name: retinitis pigmentosa 46
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IDH3B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 46" EXACT [MONDO:Lexical, OMIM:612572]
synonym: "retinitis pigmentosa 46; RP46" RELATED [OMIM:612572]
synonym: "retinitis pigmentosa caused by mutation in IDH3B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 46" EXACT [DOID:0110409, MONDORULE:2, OMIM:612572]
synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-related" RELATED [OMIM:612572]
synonym: "RP46" EXACT [DOID:0110409, MONDO:Lexical, OMIM:612572]
xref: DOID:0110409 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110409"}
xref: MESH:C567249 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612572 {source="MONDO:equivalentTo", source="DOID:0110409"}
xref: UMLS:C2675496 {source="OMIM:612572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:612572", source="DOID:0110409", source="MESH:C567249", source="MONDO:Redundant", source="OMIM:612572"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110409
property_value: exactMatch http://identifiers.org/mesh/C567249
property_value: exactMatch http://identifiers.org/omim/612572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675496

[Term]
id: MONDO:0012944
name: chromosome 17P13.3, telomeric, duplication syndrome
synonym: "chromosome 17P13.3, telomeric, duplication syndrome" EXACT [OMIM:612576]
synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [OMIM:612576]
xref: MESH:C567245 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612576 {source="MONDO:equivalentTo"}
xref: UMLS:C2675492 {source="NCBI:mim2gene_medline", source="OMIM:612576", source="MONDO:equivalentTo"}
is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome
property_value: exactMatch http://identifiers.org/mesh/C567245
property_value: exactMatch http://identifiers.org/omim/612576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675492

[Term]
id: MONDO:0012945
name: amyotrophic lateral sclerosis type 11
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010496"}
synonym: "ALS11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577]
synonym: "amyotrophic lateral sclerosis 11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577]
synonym: "amyotrophic lateral sclerosis 11; ALS11" RELATED [OMIM:612577]
synonym: "amyotrophic lateral sclerosis caused by mutation in FIG4" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 11" EXACT [MONDORULE:2, OMIM:612577]
synonym: "FIG4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060202 {source="MONDO:equivalentTo"}
xref: GARD:0010496 {source="MONDO:equivalentTo"}
xref: MESH:C567244 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612577 {source="DOID:0060202", source="MONDO:equivalentTo"}
xref: UMLS:C2675491 {source="MEDGEN:kboom-pr98-c99", source="OMIM:612577", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060202
property_value: exactMatch http://identifiers.org/mesh/C567244
property_value: exactMatch http://identifiers.org/omim/612577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675491
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11 xsd:anyURI {source="GARD:0010496"}

[Term]
id: MONDO:0012946
name: intellectual disability, autosomal dominant 3
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 3" EXACT [DOID:0070033]
synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [DOID:0070033]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15" EXACT [MONDO:design_pattern]
synonym: "CDH15 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:612580]
synonym: "mental retardation, autosomal dominant 3; MRD3" RELATED [OMIM:612580]
synonym: "mental retardation, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:612580]
synonym: "MRD3" EXACT [DOID:0070033, MONDO:Lexical, OMIM:612580]
xref: DOID:0070033 {source="MONDO:equivalentTo"}
xref: MESH:C567241 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612580 {source="DOID:0070033", source="MONDO:equivalentTo"}
xref: UMLS:C2675488 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612580"}
is_a: MONDO:0015802 {source="DC-OMIM:612580", source="DOID:0070033", source="MONDO:Redundant", source="OMIM:612580"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070033
property_value: exactMatch http://identifiers.org/mesh/C567241
property_value: exactMatch http://identifiers.org/omim/612580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675488

[Term]
id: MONDO:0012947
name: intellectual disability, autosomal dominant 4
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 4" EXACT [DOID:0070034]
synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [DOID:0070034]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3" EXACT [MONDO:design_pattern]
synonym: "KIRREL3 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 4" RELATED [MONDO:Lexical, OMIM:612581]
synonym: "mental retardation, autosomal dominant 4; MRD4" RELATED [OMIM:612581]
synonym: "mental retardation, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:612581]
synonym: "MRD4" EXACT [DOID:0070034, MONDO:Lexical, OMIM:612581]
xref: DOID:0070034 {source="MONDO:equivalentTo"}
xref: MESH:C567240 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612581 {source="DOID:0070034", source="MONDO:equivalentTo"}
xref: UMLS:C2675487 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612581"}
is_a: MONDO:0015802 {source="DC-OMIM:612581", source="DOID:0070034", source="MONDO:Redundant", source="OMIM:612581"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070034
property_value: exactMatch http://identifiers.org/mesh/C567240
property_value: exactMatch http://identifiers.org/omim/612581
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675487

[Term]
id: MONDO:0012948
name: chromosome 6pter-p24 deletion syndrome
def: "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." [Orphanet:96125]
subset: ordo_malformation_syndrome {source="Orphanet:96125"}
synonym: "6p subtelomeric deletion syndrome" EXACT [DOID:0060422, Orphanet:96125]
synonym: "6p25 microdeletion syndrome" EXACT [DOID:0060422, Orphanet:96125]
synonym: "chromosome 6pter-p24 deletion syndrome" EXACT [OMIM:612582]
synonym: "distal deletion 6p" EXACT [Orphanet:96125]
synonym: "distal monosomy 6p" EXACT [DOID:0060422]
synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125]
synonym: "monosomy 6p25" EXACT [Orphanet:96125]
xref: DOID:0060422 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:96125", source="DOID:0060422", source="ORDO:96125/attributed", source="ORDO:96125/ntbt"}
xref: MESH:C567239 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612582 {source="ORDO:96125/e", source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo"}
xref: Orphanet:96125 {source="DOID:0060422", source="MONDO:equivalentTo", source="OMIM:612582"}
xref: SCTID:718688008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2675486 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:96125", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612582"}
xref: UMLS:C4305276 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:96125", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:612582", source="DOID:0060422"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0011119 {source="Orphanet:96125"} ! iridogoniodysgenesis
is_a: MONDO:0015159 {source="Orphanet:96125"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0016888 {source="Orphanet:96125"} ! partial deletion of the short arm of chromosome 6
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020222 {source="Orphanet:96125"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060422
property_value: exactMatch http://identifiers.org/mesh/C567239
property_value: exactMatch http://identifiers.org/omim/612582
property_value: exactMatch http://identifiers.org/snomedct/718688008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305276
property_value: exactMatch Orphanet:96125

[Term]
id: MONDO:0012949
name: ANIB9
synonym: "aneurysm, intracranial BERRY, 9" RELATED [MONDO:Lexical, OMIM:612586]
synonym: "aneurysm, intracranial BERRY, 9; ANIB9" RELATED [OMIM:612586]
synonym: "ANIB9" EXACT [MONDO:Lexical, OMIM:612586]
xref: MESH:C567238 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612586 {source="MONDO:equivalentTo"}
xref: UMLS:C2675485 {source="OMIM:612586", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016483 {source="DC-OMIM:612586", source="OMIM:612586"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567238
property_value: exactMatch http://identifiers.org/omim/612586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675485

[Term]
id: MONDO:0012950
name: ANIB10
synonym: "aneurysm, intracranial BERRY, 10" RELATED [MONDO:Lexical, OMIM:612587]
synonym: "aneurysm, intracranial BERRY, 10; ANIB10" RELATED [OMIM:612587]
synonym: "ANIB10" EXACT [MONDO:Lexical, OMIM:612587]
xref: MESH:C567237 {source="MONDO:equivalentTo"}
xref: OMIM:612587 {source="MONDO:equivalentTo"}
xref: UMLS:C2675484 {source="NCBI:mim2gene_medline", source="OMIM:612587", source="MONDO:equivalentTo"}
is_a: MONDO:0016483 {source="DC-OMIM:612587", source="OMIM:612587"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/mesh/C567237
property_value: exactMatch http://identifiers.org/omim/612587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675484

[Term]
id: MONDO:0012951
name: CRCS8
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:612589]
synonym: "colorectal cancer, susceptibility to, 8; CRCS8" RELATED [OMIM:612589]
synonym: "colorectal cancer, susceptibility to, on chromosome 14Q" RELATED [OMIM:612589]
synonym: "CRCS8" EXACT [MONDO:Lexical, OMIM:612589]
xref: OMIM:612589 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612589", source="MONDOLEX:0012951"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675483
property_value: exactMatch http://identifiers.org/omim/612589

[Term]
id: MONDO:0012952
name: CRCS9
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:612590]
synonym: "colorectal cancer, susceptibility to, 9; CRCS9" RELATED [OMIM:612590]
synonym: "colorectal cancer, susceptibility to, on chromosome 16Q" RELATED [OMIM:612590]
synonym: "CRCS9" EXACT [MONDO:Lexical, OMIM:612590]
xref: OMIM:612590 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612590", source="MONDOLEX:0012952"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675482
property_value: exactMatch http://identifiers.org/omim/612590

[Term]
id: MONDO:0012953
name: colorectal cancer, susceptibility to, 10
def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "colorectal cancer caused by mutation in POLD1" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612591]
synonym: "colorectal cancer, susceptibility to, 10; CRCS10" RELATED [OMIM:612591]
synonym: "colorectal cancer, susceptibility to, on chromosome 19Q" RELATED [OMIM:612591]
synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612591]
synonym: "CRCS10" RELATED [MONDO:Lexical, OMIM:612591]
synonym: "POLD1 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 10" RELATED [OMIM:612591]
xref: OMIM:612591 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675481
property_value: exactMatch http://identifiers.org/omim/612591

[Term]
id: MONDO:0012954
name: colorectal cancer, susceptibility to, 11
subset: predisposition
synonym: "colorectal cancer, susceptibility to, 11" RELATED [MONDO:Lexical, OMIM:612592]
synonym: "colorectal cancer, susceptibility to, 11; CRCS11" RELATED [OMIM:612592]
synonym: "colorectal cancer, susceptibility to, on chromosome 20P" RELATED [OMIM:612592]
synonym: "CRCS11" EXACT [MONDO:Lexical, OMIM:612592]
xref: OMIM:612592 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DC-OMIM:612592", source="MONDOLEX:0012954"} ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675480
property_value: exactMatch http://identifiers.org/omim/612592

[Term]
id: MONDO:0012955
name: lung cancer susceptibility 4
subset: predisposition
synonym: "LNCR4" EXACT [MONDO:Lexical, OMIM:612593]
synonym: "lung cancer susceptibility 4" RELATED [MONDO:Lexical, OMIM:612593]
synonym: "lung cancer susceptibility 4; LNCR4" RELATED [OMIM:612593]
xref: OMIM:612593 {source="MONDO:equivalentTo"}
xref: UMLS:C2675479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612593"}
is_a: MONDO:0008903 {source="DC-OMIM:612593", source="MONDOLEX:0012955"} ! lung cancer
property_value: exactMatch http://identifiers.org/omim/612593
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675479

[Term]
id: MONDO:0012956
name: multiple sclerosis, susceptibility to, 2
subset: predisposition
synonym: "MS2" EXACT [MONDO:Lexical, OMIM:612594]
synonym: "multiple sclerosis, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612594]
synonym: "multiple sclerosis, susceptibility to, 2; MS2" RELATED [OMIM:612594]
xref: OMIM:612594 {source="MONDO:equivalentTo"}
is_a: MONDO:0005301 {source="DC-OMIM:612594", source="MONDO:Redundant", source="indirect"} ! multiple sclerosis
is_a: MONDO:0007462 {source="MONDOLEX:0012956", source="OMIM:612594"} ! multiple sclerosis, susceptibility to
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675478
property_value: closeMatch Orphanet:802
property_value: exactMatch http://identifiers.org/omim/612594

[Term]
id: MONDO:0012957
name: multiple sclerosis, susceptibility to, 3
subset: predisposition
synonym: "MS3" EXACT [MONDO:Lexical, OMIM:612595]
synonym: "multiple sclerosis, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612595]
synonym: "multiple sclerosis, susceptibility to, 3; MS3" RELATED [OMIM:612595]
xref: OMIM:612595 {source="MONDO:equivalentTo"}
is_a: MONDO:0005301 {source="DC-OMIM:612595", source="MONDO:Redundant", source="indirect"} ! multiple sclerosis
is_a: MONDO:0007462 {source="MONDOLEX:0012957", source="OMIM:612595"} ! multiple sclerosis, susceptibility to
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675477
property_value: closeMatch Orphanet:802
property_value: exactMatch http://identifiers.org/omim/612595

[Term]
id: MONDO:0012958
name: multiple sclerosis, susceptibility to, 4
subset: predisposition
synonym: "MS4" EXACT [MONDO:Lexical, OMIM:612596]
synonym: "multiple sclerosis, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612596]
synonym: "multiple sclerosis, susceptibility to, 4; MS4" RELATED [OMIM:612596]
xref: OMIM:612596 {source="MONDO:equivalentTo"}
is_a: MONDO:0005301 {source="DC-OMIM:612596", source="MONDO:Redundant", source="indirect"} ! multiple sclerosis
is_a: MONDO:0007462 {source="MONDOLEX:0012958", source="OMIM:612596"} ! multiple sclerosis, susceptibility to
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675476
property_value: closeMatch Orphanet:802
property_value: exactMatch http://identifiers.org/omim/612596

[Term]
id: MONDO:0012959
name: PSORS11
synonym: "psoriasis 11, susceptibility to" RELATED [MONDO:Lexical, OMIM:612599]
synonym: "psoriasis 11, susceptibility to; PSORS11" RELATED [OMIM:612599]
synonym: "PSORS11" EXACT [MONDO:Lexical, OMIM:612599]
xref: OMIM:612599 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:612599", source="OMIM:612599"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675475
property_value: exactMatch http://identifiers.org/omim/612599

[Term]
id: MONDO:0012960
name: intellectual disability, autosomal dominant 5
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 5" EXACT [DOID:0070035]
synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [DOID:0070035]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 5" RELATED [MONDO:Lexical, OMIM:612621]
synonym: "mental retardation, autosomal dominant 5; MRD5" RELATED [OMIM:612621]
synonym: "mental retardation, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:612621]
synonym: "MRD5" EXACT [DOID:0070035, MONDO:Lexical, OMIM:612621]
synonym: "SYNGAP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism" RELATED [GARD:0012558]
synonym: "SYNGAP1 syndrome" RELATED [GARD:0012558]
synonym: "SYNGAP1-related non-syndromic intellectual disability" RELATED [GARD:0012558]
synonym: "SYNGAP1-related NSID" RELATED [GARD:0012558]
xref: DOID:0070035 {source="MONDO:equivalentTo"}
xref: GARD:0012558 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567234 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612621 {source="DOID:0070035", source="MONDO:equivalentTo"}
xref: UMLS:C2675473 {source="OMIM:612621", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:612621", source="DOID:0070035", source="MONDO:Redundant", source="OMIM:612621"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070035
property_value: exactMatch http://identifiers.org/mesh/C567234
property_value: exactMatch http://identifiers.org/omim/612621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675473

[Term]
id: MONDO:0012961
name: type 1 diabetes mellitus 23
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27." [DOID:0110760, PMID:8072542]
synonym: "diabetes mellitus, insulin-dependent, 23" RELATED [MONDO:Lexical, OMIM:612622]
synonym: "diabetes mellitus, insulin-dependent, 23; IDDM23" RELATED [OMIM:612622]
synonym: "IDDM23" EXACT [DOID:0110760, MONDO:Lexical, OMIM:612622]
synonym: "insulin-dependent diabetes mellitus 23" EXACT [DOID:0110760]
xref: DOID:0110760 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110760"}
xref: MESH:C567233 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612622 {source="MONDO:equivalentTo", source="DOID:0110760"}
xref: UMLS:C2675472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612622"}
is_a: MONDO:0005147 {source="DC-OMIM:612622", source="DOID:0110760", source="MESH:C567233", source="MONDOLEX:0012961"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110760
property_value: exactMatch http://identifiers.org/mesh/C567233
property_value: exactMatch http://identifiers.org/omim/612622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675472

[Term]
id: MONDO:0012962
name: microvascular complications of diabetes, susceptibility to, 2
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612623]
synonym: "EPO microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in EPO" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612623]
synonym: "microvascular complications of diabetes, susceptibility to, 2; MVCD2" RELATED [OMIM:612623]
synonym: "microvascular complications of diabetes, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612623]
synonym: "MVCD2" RELATED [MONDO:Lexical, OMIM:612623]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612623]
xref: OMIM:612623 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612623", source="MONDO:Redundant", source="OMIM:612623"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675471
property_value: exactMatch http://identifiers.org/omim/612623

[Term]
id: MONDO:0012963
name: microvascular complications of diabetes, susceptibility to, 3
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ACE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612624]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in ACE" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612624]
synonym: "microvascular complications of diabetes, susceptibility to, 3; MVCD3" RELATED [OMIM:612624]
synonym: "microvascular complications of diabetes, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612624]
synonym: "MVCD3" RELATED [MONDO:Lexical, OMIM:612624]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612624]
xref: OMIM:612624 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612624", source="MONDO:Redundant", source="OMIM:612624"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675470
property_value: exactMatch http://identifiers.org/omim/612624

[Term]
id: MONDO:0012964
name: chromosome 15q26-qter deletion syndrome
def: "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." [Orphanet:1596]
subset: ordo_malformation_syndrome {source="Orphanet:1596"}
synonym: "15q26 deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
synonym: "chromosome 15q26-qter deletion syndrome" EXACT [OMIM:612626]
synonym: "distal 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
synonym: "distal monosomy 15q" EXACT [DOID:0060397]
synonym: "distal monosomy type 15q" EXACT [MONDORULE:4, Orphanet:1596]
synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626]
synonym: "monosomy 15q26" EXACT [Orphanet:1596]
synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
xref: DOID:0060397 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:1596", source="DOID:0060397", source="ORDO:1596/attributed", source="ORDO:1596/ntbt"}
xref: MESH:C567232 {source="DOID:0060397", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="ORDO:1596/e", source="MONDO:equivalentTo"}
xref: Orphanet:1596 {source="DOID:0060397", source="MONDO:equivalentTo", source="OMIM:612626"}
xref: SCTID:766050000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675463 {source="Orphanet:1596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:612626"}
is_a: MONDO:0000761 {source="DC-OMIM:612626", source="DOID:0060397"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:1596"} ! partial deletion of the long arm of chromosome 15
property_value: exactMatch DOID:0060397
property_value: exactMatch http://identifiers.org/mesh/C567232
property_value: exactMatch http://identifiers.org/omim/612626
property_value: exactMatch http://identifiers.org/snomedct/766050000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675463
property_value: exactMatch Orphanet:1596

[Term]
id: MONDO:0012965
name: BFIS4
synonym: "BFIS4" EXACT [MONDO:Lexical, OMIM:612627]
synonym: "convulsions, benign familial infantile, 4" RELATED [OMIM:612627]
synonym: "seizures, benign familial infantile, 4" RELATED [MONDO:Lexical, OMIM:612627]
synonym: "seizures, benign familial infantile, 4; BFIS4" RELATED [OMIM:612627]
xref: MESH:C567231 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612627 {source="MONDO:equivalentTo"}
xref: UMLS:C2675462 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612627"}
is_a: MONDO:0017615 {source="DC-OMIM:612627", source="OMIM:612627"} ! benign familial infantile epilepsy
property_value: exactMatch http://identifiers.org/mesh/C567231
property_value: exactMatch http://identifiers.org/omim/612627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675462

[Term]
id: MONDO:0012966
name: microvascular complications of diabetes, susceptibility to, 4
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IL1RN microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612628]
synonym: "microvascular complications of diabetes, susceptibility to, 4; MVCD4" RELATED [OMIM:612628]
synonym: "microvascular complications of diabetes, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612628]
synonym: "MVCD4" RELATED [MONDO:Lexical, OMIM:612628]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612628]
xref: OMIM:612628 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612628", source="MONDO:Redundant", source="OMIM:612628"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675112
property_value: exactMatch http://identifiers.org/omim/612628

[Term]
id: MONDO:0012967
name: hemolytic anemia due to adenylate kinase deficiency
def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817]
subset: ordo_disease {source="Orphanet:86817"}
synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631]
xref: ICD10:D55.3 {source="ORDO:86817/attributed", source="ORDO:86817/ntbt", source="Orphanet:86817"}
xref: MESH:C567228 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612631 {source="MONDO:equivalentTo", source="ORDO:86817/e", source="Orphanet:86817"}
xref: Orphanet:86817 {source="OMIM:612631", source="MONDO:equivalentTo"}
xref: SCTID:766982000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675459 {source="NCBI:mim2gene_medline", source="OMIM:612631", source="MONDO:equivalentTo", source="Orphanet:86817"}
is_a: MONDO:0020107 {source="Orphanet:86817"} ! hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C567228
property_value: exactMatch http://identifiers.org/omim/612631
property_value: exactMatch http://identifiers.org/snomedct/766982000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675459
property_value: exactMatch Orphanet:86817

[Term]
id: MONDO:0012968
name: Usher syndrome type 1H
def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23." [DOID:0110835, PMID:18505454]
synonym: "USH1H" EXACT [DOID:0110835, MONDO:Lexical, OMIM:612632]
synonym: "Usher syndrome type IH" EXACT [DOID:0110835]
synonym: "USHER syndrome, type IH" RELATED [MONDO:Lexical, OMIM:612632]
synonym: "USHER syndrome, type IH; USH1H" RELATED [OMIM:612632]
xref: DOID:0110835 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110835"}
xref: MESH:C567227 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612632 {source="DOID:0110835", source="MONDO:equivalentTo"}
xref: UMLS:C2675458 {source="OMIM:612632", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010168 {source="DOID:0110835", source="MONDOLEX:0012968"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110835
property_value: exactMatch http://identifiers.org/mesh/C567227
property_value: exactMatch http://identifiers.org/omim/612632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675458

[Term]
id: MONDO:0012969
name: microvascular complications of diabetes, susceptibility to, 5
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in PON1" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612633]
synonym: "microvascular complications of diabetes, susceptibility to, 5; MVCD5" RELATED [OMIM:612633]
synonym: "microvascular complications of diabetes, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612633]
synonym: "MVCD5" RELATED [MONDO:Lexical, OMIM:612633]
synonym: "PON1 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinopathy, diabetic, susceptibility to" RELATED [OMIM:612633]
xref: OMIM:612633 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612633", source="MONDO:Redundant", source="OMIM:612633"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674665
property_value: exactMatch http://identifiers.org/omim/612633

[Term]
id: MONDO:0012970
name: microvascular complications of diabetes, susceptibility to, 6
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in SOD2" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612634]
synonym: "microvascular complications of diabetes, susceptibility to, 6; MVCD6" RELATED [OMIM:612634]
synonym: "microvascular complications of diabetes, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612634]
synonym: "MVCD6" RELATED [MONDO:Lexical, OMIM:612634]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612634]
synonym: "SOD2 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:612634 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612634", source="MONDO:Redundant", source="OMIM:612634"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675128
property_value: exactMatch http://identifiers.org/omim/612634

[Term]
id: MONDO:0012971
name: microvascular complications of diabetes, susceptibility to, 7
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HFE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in HFE" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612635]
synonym: "microvascular complications of diabetes, susceptibility to, 7; MVCD7" RELATED [OMIM:612635]
synonym: "microvascular complications of diabetes, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:612635]
synonym: "MVCD7" RELATED [MONDO:Lexical, OMIM:612635]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612635]
synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635]
xref: OMIM:612635 {source="MONDO:equivalentTo"}
is_a: MONDO:0000065 {source="DC-OMIM:612635", source="MONDO:Redundant", source="OMIM:612635"} ! microvascular complications of diabetes, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673520
property_value: exactMatch http://identifiers.org/omim/612635

[Term]
id: MONDO:0012972
name: FEB10
synonym: "convulsions, familial febrile, 10" RELATED [OMIM:612637]
synonym: "FEB10" EXACT [MONDO:Lexical, OMIM:612637]
synonym: "febrile seizures, familial, 10" RELATED [MONDO:Lexical, OMIM:612637]
synonym: "febrile seizures, familial, 10; FEB10" RELATED [OMIM:612637]
xref: MESH:C567218 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612637 {source="MONDO:equivalentTo"}
xref: UMLS:C2675251 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612637"}
is_a: MONDO:0000032 {source="DC-OMIM:612637", source="OMIM:612637"} ! febrile seizures, familial
property_value: exactMatch http://identifiers.org/mesh/C567218
property_value: exactMatch http://identifiers.org/omim/612637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675251

[Term]
id: MONDO:0012973
name: inflammatory bowel disease 26
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15." [DOID:0110901, PMID:19122664]
synonym: "IBD26" EXACT [DOID:0110901, MONDO:Lexical, OMIM:612639]
synonym: "inflammatory bowel disease 26" EXACT [MONDO:Lexical, OMIM:612639]
synonym: "inflammatory bowel disease 26; IBD26" RELATED [OMIM:612639]
synonym: "inflammatory bowel disease type 26" EXACT [DOID:0110901, MONDORULE:2]
xref: DOID:0110901 {source="MONDO:equivalentTo"}
xref: MESH:C567217 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612639 {source="DOID:0110901", source="MONDO:equivalentTo"}
xref: UMLS:C2675249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612639"}
is_a: MONDO:0005265 {source="DC-OMIM:612639", source="DOID:0110901", source="MESH:C567217", source="OMIM:612639"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110901
property_value: exactMatch http://identifiers.org/mesh/C567217
property_value: exactMatch http://identifiers.org/omim/612639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675249

[Term]
id: MONDO:0012974
name: autosomal dominant nonsyndromic deafness 59
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3." [DOID:0110583, PMID:19030898]
synonym: "autosomal dominant deafness 59" EXACT [DOID:0110583]
synonym: "autosomal dominant nonsyndromic deafness type 59" EXACT [DOID:0110583, MONDORULE:2]
synonym: "deafness, autosomal dominant 59" RELATED [MONDO:Lexical, OMIM:612642]
synonym: "deafness, autosomal dominant 59; DFNA59" RELATED [OMIM:612642]
synonym: "DFNA59" EXACT [DOID:0110583, MONDO:Lexical, OMIM:612642]
xref: DOID:0110583 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110583"}
xref: MESH:C567216 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612642 {source="MONDO:equivalentTo", source="DOID:0110583"}
xref: UMLS:C2675238 {source="NCBI:mim2gene_medline", source="OMIM:612642", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:612642", source="DOID:0110583", source="OMIM:612642"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110583
property_value: exactMatch http://identifiers.org/mesh/C567216
property_value: exactMatch http://identifiers.org/omim/612642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675238

[Term]
id: MONDO:0012975
name: autosomal dominant nonsyndromic deafness 3B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 3B" EXACT [DOID:0110565]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB6" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 3B" EXACT [DOID:0110565, MONDORULE:4]
synonym: "deafness, autosomal dominant 3B" RELATED [MONDO:Lexical, OMIM:612643]
synonym: "deafness, autosomal dominant 3B; DFNA3B" RELATED [OMIM:612643]
synonym: "deafness, autosomal dominant type 3B" EXACT [MONDORULE:4, OMIM:612643]
synonym: "DFNA3B" EXACT [DOID:0110565, MONDO:Lexical, OMIM:612643]
synonym: "GJB6 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110565 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110565"}
xref: MESH:C567215 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612643 {source="MONDO:equivalentTo", source="DOID:0110565"}
xref: UMLS:C2675237 {source="OMIM:612643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:612643", source="DOID:0110565", source="MONDO:Redundant", source="OMIM:612643"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110565
property_value: exactMatch http://identifiers.org/mesh/C567215
property_value: exactMatch http://identifiers.org/omim/612643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675237

[Term]
id: MONDO:0012976
name: autosomal dominant nonsyndromic deafness 2B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 2B" EXACT [DOID:0110559]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 2B" EXACT [DOID:0110559, MONDORULE:4]
synonym: "deafness, autosomal dominant 2B" RELATED [MONDO:Lexical, OMIM:612644]
synonym: "deafness, autosomal dominant 2B; DFNA2B" RELATED [OMIM:612644]
synonym: "deafness, autosomal dominant type 2B" EXACT [MONDORULE:4, OMIM:612644]
synonym: "DFNA2B" EXACT [DOID:0110559, MONDO:Lexical, OMIM:612644]
synonym: "GJB3 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110559 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110559"}
xref: MESH:C567214 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612644 {source="DOID:0110559", source="MONDO:equivalentTo"}
xref: UMLS:C2675236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612644"}
is_a: MONDO:0019587 {source="DC-OMIM:612644", source="DOID:0110559", source="MONDO:Redundant", source="OMIM:612644"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110559
property_value: exactMatch http://identifiers.org/mesh/C567214
property_value: exactMatch http://identifiers.org/omim/612644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675236

[Term]
id: MONDO:0012977
name: autosomal recessive nonsyndromic deafness 1B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 1B" EXACT [DOID:0110476]
synonym: "Autosomal recessive deafness type 1B" RELATED [GTR:AN1075764]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GJB6" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 1B" EXACT [DOID:0110476, MONDORULE:4]
synonym: "deafness, autosomal recessive 1B" RELATED [MONDO:Lexical, OMIM:612645]
synonym: "deafness, autosomal recessive 1B; DFNB1B" RELATED [OMIM:612645]
synonym: "deafness, autosomal recessive type 1B" EXACT [MONDORULE:4, OMIM:612645]
synonym: "DFNB1B" EXACT [DOID:0110476, MONDO:Lexical, OMIM:612645]
synonym: "GJB6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110476 {source="MONDO:equivalentTo"}
xref: GTR:AN1075764 {source="UMLS:CN674504"}
xref: ICD10:H90.3 {source="DOID:0110476"}
xref: MESH:C567213 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612645 {source="MONDO:equivalentTo", source="DOID:0110476"}
xref: UMLS:C2675235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612645"}
xref: UMLS:CN674504 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:612645", source="DOID:0110476", source="MONDO:Redundant", source="OMIM:612645"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110476
property_value: exactMatch http://identifiers.org/mesh/C567213
property_value: exactMatch http://identifiers.org/omim/612645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN674504

[Term]
id: MONDO:0012978
name: primary ciliary dyskinesia 11
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD11" EXACT [DOID:0110602, MONDO:Lexical, OMIM:612649]
synonym: "ciliary dyskinesia, primary, 11" RELATED [MONDO:Lexical, OMIM:612649]
synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [OMIM:612649]
synonym: "ciliary dyskinesia, primary, 11; CILD11" RELATED [OMIM:612649]
synonym: "ciliary dyskinesia, primary, type 11" EXACT [MONDORULE:2, OMIM:612649]
synonym: "primary ciliary dyskinesia 11 without situs inversus" EXACT [DOID:0110602]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH4A" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 11" EXACT [DOID:0110602, MONDORULE:2]
synonym: "RSPH4A primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110602 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110602"}
xref: MESH:C567212 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612649 {source="DOID:0110602", source="MONDO:equivalentTo"}
xref: UMLS:C2675229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612649"}
is_a: MONDO:0016575 {source="DC-OMIM:612649", source="DOID:0110602", source="MESH:C567212", source="MONDO:Redundant", source="MONDOLEX:0012978", source="OMIM:612649"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110602
property_value: exactMatch http://identifiers.org/mesh/C567212
property_value: exactMatch http://identifiers.org/omim/612649
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675229

[Term]
id: MONDO:0012979
name: primary ciliary dyskinesia 12
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD12" EXACT [DOID:0110601, MONDO:Lexical, OMIM:612650]
synonym: "ciliary dyskinesia, primary, 12" RELATED [MONDO:Lexical, OMIM:612650]
synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [OMIM:612650]
synonym: "ciliary dyskinesia, primary, 12; CILD12" RELATED [OMIM:612650]
synonym: "ciliary dyskinesia, primary, type 12" EXACT [MONDORULE:2, OMIM:612650]
synonym: "primary ciliary dyskinesia 12 without situs inversus" EXACT [DOID:0110601]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH9" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 12" EXACT [DOID:0110601, MONDORULE:2]
synonym: "RSPH9 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110601 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110601"}
xref: MESH:C567211 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612650 {source="DOID:0110601", source="MONDO:equivalentTo"}
xref: UMLS:C2675228 {source="OMIM:612650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:612650", source="DOID:0110601", source="MESH:C567211", source="MONDO:Redundant", source="MONDOLEX:0012979", source="OMIM:612650"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110601
property_value: exactMatch http://identifiers.org/mesh/C567211
property_value: exactMatch http://identifiers.org/omim/612650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675228

[Term]
id: MONDO:0012980
name: endocrine-cerebro-osteodysplasia syndrome
def: "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." [Orphanet:199332]
subset: ordo_malformation_syndrome {source="Orphanet:199332"}
synonym: "ECO" RELATED [MONDO:Lexical, OMIM:612651]
synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332]
synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651]
synonym: "endocrine-CEREBROOSTEODYSPLASIA; ECO" RELATED [OMIM:612651]
xref: DOID:0060641 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:199332", source="DOID:0060641", source="ORDO:199332/attributed", source="ORDO:199332/ntbt"}
xref: MESH:C567210 {source="MONDO:equivalentTo"}
xref: OMIM:612651 {source="Orphanet:199332", source="ORDO:199332/e", source="DOID:0060641", source="MONDO:equivalentTo"}
xref: Orphanet:199332 {source="OMIM:612651", source="DOID:0060641", source="MONDO:equivalentTo"}
xref: SCTID:723309006 {source="MONDO:equivalentTo"}
xref: UMLS:C2675227 {source="OMIM:612651", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4509819 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018236 {source="Orphanet:199332"} ! dysostosis with limb and face anomalies as a major feature
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:199332"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060641
property_value: exactMatch http://identifiers.org/mesh/C567210
property_value: exactMatch http://identifiers.org/omim/612651
property_value: exactMatch http://identifiers.org/snomedct/723309006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509819
property_value: exactMatch Orphanet:199332

[Term]
id: MONDO:0012981
name: hereditary spherocytosis type 4
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 4" EXACT [DOID:0110919]
synonym: "hereditary spherocytosis caused by mutation in SLC4A1" EXACT [MONDO:design_pattern]
synonym: "HS4" EXACT [DOID:0110919]
synonym: "SLC4A1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SPH4" EXACT [DOID:0110919, MONDO:Lexical, OMIM:612653]
synonym: "spherocytosis, hereditary, 4" RELATED [OMIM:612653]
synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical, OMIM:612653]
synonym: "spherocytosis, type 4; SPH4" RELATED [OMIM:612653]
xref: DOID:0110919 {source="MONDO:equivalentTo"}
xref: MESH:C567208 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612653 {source="MONDO:equivalentTo", source="DOID:0110919"}
xref: UMLS:C2675212 {source="NCBI:mim2gene_medline", source="OMIM:612653", source="MONDO:equivalentTo"}
is_a: MONDO:0019350 {source="DOID:0110919", source="MESH:C567208", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
property_value: exactMatch DOID:0110919
property_value: exactMatch http://identifiers.org/mesh/C567208
property_value: exactMatch http://identifiers.org/omim/612653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675212

[Term]
id: MONDO:0012982
name: episodic ataxia type 6
def: "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." [Orphanet:209967]
subset: ordo_disease {source="Orphanet:209967"}
synonym: "EA6" RELATED [MONDO:Lexical, OMIM:612656]
synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656]
synonym: "episodic ataxia, type 6; EA6" RELATED [OMIM:612656]
synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern]
synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050994 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="Orphanet:209967", source="ORDO:209967/attributed", source="ORDO:209967/ntbt"}
xref: MESH:C567207 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612656 {source="Orphanet:209967", source="ORDO:209967/e", source="DOID:0050994", source="MONDO:equivalentTo"}
xref: Orphanet:209967 {source="MONDO:equivalentTo", source="OMIM:612656"}
xref: SCTID:718753002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2675211 {source="Orphanet:209967", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612656"}
is_a: MONDO:0016227 {source="DOID:0050994", source="MONDO:Redundant", source="OMIM:612656", source="Orphanet:209967", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050994
property_value: exactMatch http://identifiers.org/mesh/C567207
property_value: exactMatch http://identifiers.org/omim/612656
property_value: exactMatch http://identifiers.org/snomedct/718753002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675211
property_value: exactMatch Orphanet:209967

[Term]
id: MONDO:0012983
name: cone-rod dystrophy 12
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 12" EXACT [MONDO:Lexical, OMIM:612657]
synonym: "cone-rod dystrophy 12; CORD12" RELATED [OMIM:612657]
synonym: "cone-rod dystrophy caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 12" EXACT [DOID:0111019, MONDORULE:2, OMIM:612657]
synonym: "CORD12" EXACT [DOID:0111019, MONDO:Lexical, OMIM:612657]
synonym: "PROM1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111019 {source="MONDO:equivalentTo"}
xref: MESH:C567206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612657 {source="DOID:0111019", source="MONDO:equivalentTo"}
xref: UMLS:C2675210 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612657"}
is_a: MONDO:0015993 {source="DC-OMIM:612657", source="DOID:0111019", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111019
property_value: exactMatch http://identifiers.org/mesh/C567206
property_value: exactMatch http://identifiers.org/omim/612657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675210

[Term]
id: MONDO:0012984
name: PHARC syndrome
def: "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." [Orphanet:171848]
subset: ordo_disease {source="Orphanet:171848"}
synonym: "peripheral neuropathy, Fiskerstrand type" EXACT [Orphanet:171848]
synonym: "PHARC" RELATED [MONDO:Lexical, OMIM:612674]
synonym: "PHARC syndrome" EXACT [Orphanet:171848]
synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" RELATED [MONDO:Lexical, OMIM:612674]
synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; PHARC" RELATED [OMIM:612674]
synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [Orphanet:171848]
synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181]
xref: DOID:0080181 {source="MONDO:equivalentTo"}
xref: MESH:C567203 {source="MONDO:equivalentTo"}
xref: OMIM:612674 {source="Orphanet:171848", source="ORDO:171848/e", source="MONDO:equivalentTo", source="DOID:0080181"}
xref: Orphanet:171848 {source="OMIM:612674", source="MONDO:equivalentTo", source="DOID:0080181"}
xref: SCTID:723452007 {source="MONDO:equivalentTo"}
xref: UMLS:C2675204 {source="OMIM:612674", source="Orphanet:171848", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0006025 {source="DOID:0080181", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016132 {source="Orphanet:171848"} ! rare hereditary disease with peripheral neuropathy
is_a: MONDO:0018119 {source="Orphanet:171848"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
is_a: MONDO:0019589 {source="Orphanet:171848"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:171848"} ! syndromic retinitis pigmentosa
property_value: exactMatch DOID:0080181
property_value: exactMatch http://identifiers.org/mesh/C567203
property_value: exactMatch http://identifiers.org/omim/612674
property_value: exactMatch http://identifiers.org/snomedct/723452007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675204
property_value: exactMatch Orphanet:171848

[Term]
id: MONDO:0012985
name: hereditary spherocytosis type 5
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EPB42 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 5" EXACT [DOID:0110920]
synonym: "hereditary spherocytosis caused by mutation in EPB42" EXACT [MONDO:design_pattern]
synonym: "HS5" EXACT [DOID:0110920]
synonym: "SPH5" EXACT [DOID:0110920, MONDO:Lexical, OMIM:612690]
synonym: "spherocytosis, hereditary, 5" RELATED [OMIM:612690]
synonym: "spherocytosis, type 5" RELATED [MONDO:Lexical, OMIM:612690]
synonym: "spherocytosis, type 5; SPH5" RELATED [OMIM:612690]
xref: DOID:0110920 {source="MONDO:equivalentTo"}
xref: MESH:C567202 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612690 {source="DOID:0110920", source="MONDO:equivalentTo"}
xref: UMLS:C2675192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612690"}
is_a: MONDO:0019350 {source="DOID:0110920", source="MESH:C567202", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
property_value: exactMatch DOID:0110920
property_value: exactMatch http://identifiers.org/mesh/C567202
property_value: exactMatch http://identifiers.org/omim/612690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675192

[Term]
id: MONDO:0012986
name: bilateral parasagittal parieto-occipital polymicrogyria
subset: gard_rare {source="GARD:0010785"}
subset: ordo_clinical_subtype {source="Orphanet:208441"}
synonym: "BTOP" RELATED [MONDO:Lexical, OMIM:612691]
synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691]
synonym: "polymicrogyria, bilateral temporooccipital; BTOP" RELATED [OMIM:612691]
xref: GARD:0010785 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:208441/attributed", source="ORDO:208441/ntbt", source="Orphanet:208441"}
xref: MESH:C567201 {source="MONDO:equivalentTo"}
xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="ORDO:208441/e"}
xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"}
xref: UMLS:C2675191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612691"}
is_a: MONDO:0017091 {source="Orphanet:208441"} ! bilateral polymicrogyria
property_value: exactMatch http://identifiers.org/mesh/C567201
property_value: exactMatch http://identifiers.org/omim/612691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675191
property_value: exactMatch Orphanet:208441
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria xsd:anyURI {source="GARD:0010785"}

[Term]
id: MONDO:0012987
name: agammaglobulinemia 6, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM:612692]
synonym: "agammaglobulinemia 6, autosomal recessive; AGM6" RELATED [OMIM:612692]
synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [OMIM:612692]
synonym: "AGM6" RELATED [MONDO:Lexical, OMIM:612692]
synonym: "autosomal agammaglobulinemia caused by mutation in CD79B" EXACT [MONDO:design_pattern]
synonym: "CD79B autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:612692 {source="MONDO:equivalentTo"}
xref: UMLS:C3150207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612692"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/612692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150207

[Term]
id: MONDO:0012988
name: hypogonadotropic hypogonadism 6 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH6" RELATED [MONDO:Lexical, OMIM:612702]
synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702]
synonym: "hypogonadotropic hypogonadism 6 with or without anosmia; HH6" RELATED [OMIM:612702]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO:design_pattern]
synonym: "KAL6" NARROW [GARD:0010774]
synonym: "Kallmann syndrome 6" RELATED [GARD:0010774]
xref: DOID:0090086 {source="MONDO:equivalentTo"}
xref: GARD:0010774 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090086", source="MONDO:relatedTo"}
xref: MESH:C567199 {source="MONDO:equivalentTo"}
xref: OMIM:612702 {source="DOID:0090086", source="MONDO:equivalentTo", source="GARD:0010774"}
xref: UMLS:C3552574 {source="MONDO:equivalentTo", source="OMIM:612702"}
is_a: MONDO:0018800 {source="MESH:C567199", source="MONDOLEX:0012988", source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675188
property_value: exactMatch DOID:0090086
property_value: exactMatch http://identifiers.org/mesh/C567199
property_value: exactMatch http://identifiers.org/omim/612702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552574
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 xsd:anyURI {source="GARD:0010774"}

[Term]
id: MONDO:0012989
name: microcephaly 7, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in STIL" EXACT [MONDO:design_pattern]
synonym: "MCPH7" RELATED [MONDO:Lexical, OMIM:612703]
synonym: "microcephaly 7, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:612703]
synonym: "microcephaly 7, primary, autosomal recessive; MCPH7" RELATED [OMIM:612703]
synonym: "STIL autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070278 {source="MONDO:equivalentTo"}
xref: MESH:C567198 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612703 {source="MONDO:equivalentTo"}
xref: UMLS:C2675187 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612703"}
is_a: MONDO:0016660 {source="DC-OMIM:612703", source="MONDO:Redundant", source="OMIM:612703"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070278
property_value: exactMatch http://identifiers.org/mesh/C567198
property_value: exactMatch http://identifiers.org/omim/612703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675187

[Term]
id: MONDO:0012990
name: Leber congenital amaurosis 13
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010882"}
synonym: "LCA13" EXACT [DOID:0110330, MONDO:Lexical, OMIM:612712]
synonym: "Leber congenital amaurosis 13" EXACT [MONDO:Lexical, OMIM:612712]
synonym: "Leber congenital amaurosis 13; LCA13" RELATED [OMIM:612712]
synonym: "Leber congenital amaurosis caused by mutation in RDH12" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 13" EXACT [DOID:0110330, MONDORULE:2, OMIM:612712]
synonym: "RDH12 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 53" RELATED [OMIM:612712]
xref: DOID:0110330 {source="MONDO:equivalentTo"}
xref: GARD:0010882 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110330"}
xref: MESH:C567197 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612712 {source="MONDO:equivalentTo", source="DOID:0110330"}
xref: UMLS:C2675186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612712"}
is_a: MONDO:0018998 {source="DC-OMIM:612712", source="DOID:0110330", source="MESH:C567197", source="MONDO:Redundant", source="OMIM:612712"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150208
property_value: exactMatch DOID:0110330
property_value: exactMatch http://identifiers.org/mesh/C567197
property_value: exactMatch http://identifiers.org/omim/612712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675186
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13 xsd:anyURI {source="GARD:0010882"}

[Term]
id: MONDO:0012991
name: Kahrizi syndrome
def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene." [DOID:0050807, http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972]
synonym: "Kahrizi syndrome" EXACT [MONDO:Lexical, OMIM:612713]
synonym: "Kahrizi syndrome; KHRZ" RELATED [OMIM:612713]
synonym: "KHRZ" RELATED [MONDO:Lexical, OMIM:612713]
synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" RELATED [OMIM:612713]
xref: DOID:0050807 {source="MONDO:equivalentTo"}
xref: MESH:C567196 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612713 {source="MONDO:equivalentTo", source="DOID:0050807"}
xref: Orphanet:168972 {source="MONDO:equivalentTo", source="OMIM:612713"}
xref: UMLS:C2675185 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612713"}
xref: UMLS:CN200191 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050807"} ! autosomal recessive disease
property_value: exactMatch DOID:0050807
property_value: exactMatch http://identifiers.org/mesh/C567196
property_value: exactMatch http://identifiers.org/omim/612713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200191
property_value: exactMatch Orphanet:168972

[Term]
id: MONDO:0012992
name: pancreatic insufficiency-anemia-hyperostosis syndrome
def: "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." [Orphanet:199337]
subset: ordo_disease {source="Orphanet:199337"}
synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714]
synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT []
xref: MESH:C567195 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612714 {source="MONDO:equivalentTo", source="ORDO:199337/e", source="Orphanet:199337"}
xref: Orphanet:199337 {source="MONDO:equivalentTo", source="OMIM:612714"}
xref: SCTID:722207000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:199337", source="OMIM:612714"}
xref: UMLS:C4302747 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0001684 {source="MESH:C567195", source="linkedlifedata"} ! exocrine pancreatic insufficiency
is_a: MONDO:0009068 {source="linkedlifedata"} ! cytochrome-c oxidase deficiency disease
is_a: MONDO:0016578 {source="Orphanet:199337"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0019403 {source="MESH:C567195", source="linkedlifedata"} ! congenital dyserythropoietic anemia
is_a: MONDO:0019709 {source="Orphanet:199337"} ! cleidocranial dysplasia and isolated cranial ossification defect
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C567195
property_value: exactMatch http://identifiers.org/omim/612714
property_value: exactMatch http://identifiers.org/snomedct/722207000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302747
property_value: exactMatch Orphanet:199337

[Term]
id: MONDO:0012993
name: dyschromatosis universalis hereditaria 2
synonym: "DUH2" RELATED [MONDO:Lexical, OMIM:612715]
synonym: "dyschromatosis universalis hereditaria 2" EXACT [MONDO:Lexical, OMIM:612715]
synonym: "dyschromatosis universalis hereditaria 2; DUH2" RELATED [OMIM:612715]
xref: MESH:C567194 {source="MONDO:equivalentTo"}
xref: OMIM:612715 {source="MONDO:equivalentTo"}
xref: UMLS:C2675183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612715"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:612715", source="ORDO:241/btnt"} ! dyschromatosis universalis hereditaria
property_value: exactMatch http://identifiers.org/mesh/C567194
property_value: exactMatch http://identifiers.org/omim/612715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675183

[Term]
id: MONDO:0012994
name: dopa-responsive dystonia due to sepiapterin reductase deficiency
def: "Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." [Orphanet:70594]
subset: ordo_disease {source="Orphanet:70594"}
synonym: "autosomal recessive sepiapterin reductase-deficient DRD" EXACT [Orphanet:70594]
synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT [DOID:0111168]
synonym: "DRD due to SRD" EXACT [DOID:0111168, Orphanet:70594]
synonym: "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency" RELATED [OMIM:612716]
synonym: "DYT-SPR" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK304122/]
synonym: "sepiapterin reductase deficiency" EXACT [Orphanet:70594]
synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594]
synonym: "SRD" EXACT [DOID:0111168]
xref: DOID:0111168 {source="MONDO:equivalentTo"}
xref: GARD:0010365 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G24.1 {source="Orphanet:70594", source="ORDO:70594/attributed", source="ORDO:70594/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562657 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612716 {source="ORDO:70594/e", source="Orphanet:70594", source="MONDO:equivalentTo", source="DOID:0111168"}
xref: Orphanet:70594 {source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"}
xref: SCTID:45116002 {source="MONDO:kboom-pr-1.00/0.91/27.16", source="MONDO:equivalentTo", source="DOID:0111168"}
xref: UMLS:C0268468 {source="Orphanet:70594", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"}
is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:70594"} ! dopa-responsive dystonia
is_a: MONDO:0017756 {source="Orphanet:70594"} ! disorder of pterin metabolism
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045014 ! tetrahydrobiopterin metabolic process disease
property_value: exactMatch DOID:0111168
property_value: exactMatch http://identifiers.org/mesh/C562657
property_value: exactMatch http://identifiers.org/omim/612716
property_value: exactMatch http://identifiers.org/snomedct/45116002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268468
property_value: exactMatch Orphanet:70594

[Term]
id: MONDO:0012995
name: MYP15
synonym: "myopia 15, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612717]
synonym: "myopia 15, autosomal dominant; MYP15" RELATED [OMIM:612717]
synonym: "MYP15" EXACT [MONDO:Lexical, OMIM:612717]
xref: MESH:C567193 {source="MONDO:equivalentTo"}
xref: OMIM:612717 {source="MONDO:equivalentTo"}
xref: UMLS:C2675180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612717"}
is_a: MONDO:0001384 {source="DC-OMIM:612717", source="MESH:C567193", source="OMIM:612717"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567193
property_value: exactMatch http://identifiers.org/omim/612717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675180

[Term]
id: MONDO:0012996
name: AGAT deficiency
def: "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." [Orphanet:35704]
subset: ordo_disease {source="Orphanet:35704"}
synonym: "AGAT deficiency" EXACT [OMIM:612718, Orphanet:35704]
synonym: "arginine:glycine amidinotransferase deficiency" EXACT [DOID:0050712, OMIM:612718]
synonym: "CCDS3" RELATED [MONDO:Lexical, OMIM:612718]
synonym: "cerebral creatine deficiency syndrome 3" EXACT [DOID:0050712, MONDO:Lexical, OMIM:612718]
synonym: "cerebral creatine deficiency syndrome 3; CCDS3" EXACT [OMIM:612718]
synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1, OMIM:612718]
synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [OMIM:612718]
synonym: "disorder of glycine amidinotransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycine amidinotransferase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "GATM deficiency" EXACT [OMIM:612718]
synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_pattern]
synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704]
xref: DOID:0050712 {source="MONDO:equivalentTo"}
xref: GARD:0010323 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.8 {source="Orphanet:35704", source="ORDO:35704/attributed", source="ORDO:35704/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567192 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612718 {source="ORDO:35704/e", source="Orphanet:35704", source="MONDO:equivalentTo", source="DOID:0050712"}
xref: Orphanet:35704 {source="MONDO:equivalentTo", source="OMIM:612718"}
xref: SCTID:702440000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2675179 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:35704", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612718"}
is_a: MONDO:0000456 {source="DOID:0050712", source="OMIM:612718", source="Orphanet:35704"} ! cerebral creatine deficiency syndrome
is_a: MONDO:0019058 {source="Orphanet:35704"} ! neurometabolic disease
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045018 ! creatine biosynthetic process disease
property_value: exactMatch DOID:0050712
property_value: exactMatch http://identifiers.org/mesh/C567192
property_value: exactMatch http://identifiers.org/omim/612718
property_value: exactMatch http://identifiers.org/snomedct/702440000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675179
property_value: exactMatch Orphanet:35704

[Term]
id: MONDO:0012997
name: cholestasis-pigmentary retinopathy-cleft palate syndrome
def: "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome (see this term) is debated." [Orphanet:1415]
subset: ordo_malformation_syndrome {source="Orphanet:1415"}
synonym: "HARDIKAR syndrome" RELATED [OMIM:612726]
synonym: "Hardikar syndrome" EXACT [Orphanet:1415]
xref: GARD:0009280 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C535632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612726 {source="MONDO:equivalentTo", source="Orphanet:1415", source="ORDO:1415/e"}
xref: Orphanet:1415 {source="MONDO:equivalentTo", source="OMIM:612726"}
xref: SCTID:720636001 {source="MONDO:kboom-pr-0.99/0.73/5.39", source="MONDO:equivalentTo"}
xref: UMLS:C0795969 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1415", source="OMIM:612726"}
is_a: MONDO:0015335 {source="Orphanet:1415"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C535632
property_value: exactMatch http://identifiers.org/omim/612726
property_value: exactMatch http://identifiers.org/snomedct/720636001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795969
property_value: exactMatch Orphanet:1415

[Term]
id: MONDO:0012998
name: faciocardiomelic syndrome
synonym: "faciocardiomelic syndrome" EXACT [OMIM:612731]
xref: MESH:C567176 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612731 {source="MONDO:equivalentTo"}
xref: UMLS:C2674798 {source="OMIM:612731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567176
property_value: exactMatch http://identifiers.org/omim/612731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674798

[Term]
id: MONDO:0012999
name: guanidinoacetate methyltransferase deficiency
def: "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." [Orphanet:382]
subset: gard_rare {source="GARD:0002578"}
subset: ordo_disease {source="Orphanet:382"}
synonym: "CCDS2" RELATED [MONDO:Lexical, OMIM:612736]
synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Lexical, OMIM:612736]
synonym: "cerebral creatine deficiency syndrome 2; CCDS2" RELATED [OMIM:612736]
synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612736]
synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [OMIM:612736]
synonym: "disorder of guanidinoacetate N-methyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of guanidinoacetate N-methyltransferase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "GAMT deficiency" EXACT [DOID:0050799, OMIM:612736, Orphanet:382]
synonym: "guanidinoacetate methyltransferase deficiency" EXACT [OMIM:612736]
synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern]
xref: DOID:0050799 {source="MONDO:equivalentTo"}
xref: GARD:0002578 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="ORDO:382/attributed", source="ORDO:382/ntbt", source="Orphanet:382"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537622 {source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382", source="MONDO:ontobio"}
xref: OMIM:612736 {source="DOID:0050799", source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382"}
xref: Orphanet:382 {source="MONDO:equivalentTo", source="OMIM:612736"}
xref: SCTID:124239003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C0574080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382", source="OMIM:612736"}
is_a: MONDO:0000456 {source="DOID:0050799", source="OMIM:612736", source="Orphanet:382"} ! cerebral creatine deficiency syndrome
is_a: MONDO:0015919 {source="Orphanet:382"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045018 ! creatine biosynthetic process disease
property_value: exactMatch DOID:0050799
property_value: exactMatch http://identifiers.org/mesh/C537622
property_value: exactMatch http://identifiers.org/omim/612736
property_value: exactMatch http://identifiers.org/snomedct/124239003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574080
property_value: exactMatch Orphanet:382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency xsd:anyURI {source="GARD:0002578"}

[Term]
id: MONDO:0013000
name: porphyria due to ALA dehydratase deficiency
def: "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations." [Orphanet:100924]
subset: gard_rare
subset: ordo_disease {source="Orphanet:100924"}
synonym: "5-aminolevulinic acid dehydratase deficiency porphyria" RELATED [GARD:0004445]
synonym: "ALA dehydratase deficiency pophyria" RELATED [GARD:0004445]
synonym: "ALAD deficiency" RELATED [OMIM:612740]
synonym: "ALAD porphyria" EXACT [Orphanet:100924]
synonym: "aminolevulinate dehydratase deficiency porphyria" RELATED [GARD:0004445]
synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [OMIM:612740]
synonym: "Doss porphyria" RELATED [OMIM:612740]
synonym: "Lead poisoning, susceptibility to" RELATED [OMIM:612740]
synonym: "porphobilinogen synthase deficiency" RELATED [OMIM:612740]
synonym: "porphyria due to ALAD deficiency" EXACT [Orphanet:100924]
synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [Orphanet:100924]
synonym: "porphyria of Doss" EXACT [Orphanet:100924]
synonym: "porphyria, acute hepatic" RELATED [OMIM:612740]
synonym: "porphyria, ALAD" RELATED [OMIM:612740]
xref: GARD:0004445 {source="MONDO:equivalentTo"}
xref: ICD10:E80.2 {source="ORDO:100924/attributed", source="ORDO:100924/ntbt", source="Orphanet:100924"}
xref: MESH:C562618 {source="MONDO:equivalentTo"}
xref: OMIM:612740 {source="MONDO:equivalentTo", source="ORDO:100924/e", source="Orphanet:100924"}
xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"}
is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! acute hepatic porphyria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268328
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748608
property_value: exactMatch http://identifiers.org/mesh/C562618
property_value: exactMatch http://identifiers.org/omim/612740
property_value: exactMatch Orphanet:100924
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria xsd:anyURI {source="GARD:0004445"}

[Term]
id: MONDO:0013001
name: obsolete synesthesia
comment: This is not a disease, and may be obsoleted or moved to another hierarchy
synonym: "synesthesia" EXACT [OMIM:612759]
synonym: "Synsth" RELATED [OMIM:612759]
xref: MESH:C562460 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612759 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0233778
property_value: exactMatch http://identifiers.org/mesh/C562460
property_value: exactMatch http://identifiers.org/omim/612759
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1688 xsd:string
is_obsolete: true

[Term]
id: MONDO:0013002
name: cone-rod dystrophy 9
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADAM9 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 9" EXACT [MONDO:Lexical, OMIM:612775]
synonym: "cone-rod dystrophy 9; CORD9" RELATED [OMIM:612775]
synonym: "cone-rod dystrophy caused by mutation in ADAM9" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 9" EXACT [DOID:0111020, MONDORULE:1, OMIM:612775]
synonym: "CORD9" EXACT [DOID:0111020, MONDO:Lexical, OMIM:612775]
xref: DOID:0111020 {source="MONDO:equivalentTo"}
xref: OMIM:612775 {source="MONDO:equivalentTo", source="DOID:0111020"}
xref: UMLS:C1423873 {source="OMIM:612775", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111020
property_value: exactMatch http://identifiers.org/omim/612775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1423873

[Term]
id: MONDO:0013003
name: isolated congenital hypoglossia/aglossia
def: "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." [Orphanet:141152]
subset: ordo_morphological_anomaly {source="Orphanet:141152"}
synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776]
synonym: "hypoglossia, isolated" RELATED [OMIM:612776]
xref: ICD10:Q38.3 {source="Orphanet:141152", source="ORDO:141152/attributed", source="ORDO:141152/ntbt"}
xref: OMIM:612776 {source="ORDO:141152/e", source="Orphanet:141152", source="MONDO:equivalentTo"}
xref: Orphanet:141152 {source="MONDO:equivalentTo", source="OMIM:612776"}
xref: UMLS:C2748587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612776"}
is_a: MONDO:0015497 {source="Orphanet:141152"} ! hypoglossia/aglossia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748588
property_value: exactMatch http://identifiers.org/omim/612776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748587
property_value: exactMatch Orphanet:141152

[Term]
id: MONDO:0013004
name: hypotonia, seizures, and precocious puberty
synonym: "hypotonia, seizures, and precocious puberty" EXACT [OMIM:612777]
xref: MESH:C567566 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612777 {source="MONDO:equivalentTo"}
xref: UMLS:C2748586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612777"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567566
property_value: exactMatch http://identifiers.org/omim/612777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748586

[Term]
id: MONDO:0013005
name: EAST syndrome
def: "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." [Orphanet:199343]
subset: ordo_disease {source="Orphanet:199343"}
synonym: "EAST syndrome" EXACT [OMIM:612780]
synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [DOID:0060484]
synonym: "epilepsy, ataxia, sensorineural deafness, and tubulopathy" RELATED [OMIM:612780]
synonym: "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" RELATED [GARD:0010514]
synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT [DOID:0060484]
synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" RELATED [MONDO:Lexical, OMIM:612780]
synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES" RELATED [OMIM:612780]
synonym: "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" EXACT [Orphanet:199343]
synonym: "sesame syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343]
synonym: "SESAMES" RELATED [MONDO:Lexical, OMIM:612780]
xref: DOID:0060484 {source="MONDO:equivalentTo"}
xref: GARD:0010514 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C557674 {source="DOID:0060484", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="ORDO:199343/e", source="MONDO:equivalentTo"}
xref: Orphanet:199343 {source="DOID:0060484", source="MONDO:equivalentTo", source="OMIM:612780"}
xref: SCTID:721207002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.02"}
xref: UMLS:C2748572 {source="DOID:0060484", source="Orphanet:199343", source="MEDGEN:kboom-pr97-c99", source="ORDO:199343/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612780"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0000557 {source="Orphanet:199343"} ! hereditary ataxia
is_a: MONDO:0015922 {source="Orphanet:199343"} ! channelopathy with epilepsy
is_a: MONDO:0015962 {source="Orphanet:199343"} ! inherited renal tubular disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:199343"} ! syndromic genetic deafness
is_a: MONDO:0019744 {source="Orphanet:199343"} ! rare renal tubular disease
property_value: exactMatch DOID:0060484
property_value: exactMatch http://identifiers.org/mesh/C557674
property_value: exactMatch http://identifiers.org/omim/612780
property_value: exactMatch http://identifiers.org/snomedct/721207002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748572
property_value: exactMatch Orphanet:199343

[Term]
id: MONDO:0013006
name: isolated growth hormone deficiency type IB
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." [DOID:0060874, PMID:10678654, PMID:8288694, PMID:8528260]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:231671"}
synonym: "congenital IGHD type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "congenital isolated GH deficiency type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "congenital isolated growth hormone deficiency type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "dwarfism of Sindh" EXACT [DOID:0060874, GARD:0003919, OMIM:612781]
synonym: "IGHD 1B" RELATED [GARD:0003919, OMIM:612781]
synonym: "IGHD IB" EXACT [DOID:0060874]
synonym: "IGHD1B" RELATED [GARD:0003919, MONDO:Lexical, OMIM:612781]
synonym: "isolated growth hormone deficiency type 1B" RELATED [GARD:0003919]
synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781]
synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781]
synonym: "isolated growth hormone deficiency, type IB; IGHD1B" RELATED [OMIM:612781]
xref: DOID:0060874 {source="MONDO:equivalentTo"}
xref: GARD:0003919 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="Orphanet:231671", source="DOID:0060874", source="ORDO:231671/attributed", source="ORDO:231671/ntbt"}
xref: MESH:C567564 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612781 {source="ORDO:231671/e", source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="GARD:0003919"}
xref: Orphanet:231671 {source="OMIM:612781", source="MONDO:equivalentTo", source="DOID:0060874"}
xref: UMLS:C2748571 {source="OMIM:612781", source="MEDGEN:kboom-pr98-c99", source="Orphanet:231671", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000050 {source="DC-OMIM:612781", source="DOID:0060874", source="Orphanet:231671"} ! isolated congenital growth hormone deficiency
property_value: exactMatch DOID:0060874
property_value: exactMatch http://identifiers.org/mesh/C567564
property_value: exactMatch http://identifiers.org/omim/612781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748571
property_value: exactMatch Orphanet:231671
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b xsd:anyURI {source="GARD:0003919"}

[Term]
id: MONDO:0013007
name: combined immunodeficiency due to ORAI1 deficiency
def: "deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." [Orphanet:317428]
subset: ordo_clinical_subtype {source="Orphanet:317428"}
synonym: "Cid due to ORAI1 deficiency" EXACT [Orphanet:317428]
synonym: "IMD9" RELATED [MONDO:Lexical, OMIM:612782]
synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" RELATED [OMIM:612782]
synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782]
synonym: "immunodeficiency 9; IMD9" RELATED [OMIM:612782]
synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782]
xref: GARD:0010524 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D81.8 {source="Orphanet:317428", source="ORDO:317428/attributed", source="ORDO:317428/ntbt"}
xref: MESH:C557826 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612782 {source="Orphanet:317428", source="ORDO:317428/e", source="MONDO:equivalentTo"}
xref: Orphanet:317428 {source="OMIM:612782", source="MONDO:equivalentTo"}
xref: UMLS:C2748568 {source="OMIM:612782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015695 {source="Orphanet:317428"} ! combined immunodeficiency due to CRAC channel dysfunction
property_value: exactMatch http://identifiers.org/mesh/C557826
property_value: exactMatch http://identifiers.org/omim/612782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748568
property_value: exactMatch Orphanet:317428

[Term]
id: MONDO:0013008
name: combined immunodeficiency due to STIM1 deficiency
def: "deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." [Orphanet:317430]
subset: ordo_clinical_subtype {source="Orphanet:317430"}
synonym: "Cid due to STIM1 deficiency" EXACT [Orphanet:317430]
synonym: "IMD10" RELATED [MONDO:Lexical, OMIM:612783]
synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" RELATED [OMIM:612783]
synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783]
synonym: "immunodeficiency 10; IMD10" RELATED [OMIM:612783]
synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783]
synonym: "STIM1 deficiency" RELATED [OMIM:612783]
xref: GARD:0010523 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:D81.8 {source="ORDO:317430/attributed", source="ORDO:317430/ntbt", source="Orphanet:317430"}
xref: MESH:C557827 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612783 {source="MONDO:equivalentTo", source="ORDO:317430/e", source="Orphanet:317430"}
xref: Orphanet:317430 {source="OMIM:612783", source="MONDO:equivalentTo"}
xref: UMLS:C2748557 {source="OMIM:612783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015695 {source="Orphanet:317430"} ! combined immunodeficiency due to CRAC channel dysfunction
property_value: exactMatch http://identifiers.org/mesh/C557827
property_value: exactMatch http://identifiers.org/omim/612783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748557
property_value: exactMatch Orphanet:317430

[Term]
id: MONDO:0013009
name: Megarbane-Jalkh syndrome
subset: gard_rare {source="GARD:0010689"}
synonym: "developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure" RELATED [GARD:0010689]
synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" RELATED [OMIM:612785]
synonym: "Megarbane Jalkh syndrome" RELATED [GARD:0010689]
synonym: "Megarbane-Jalkh syndrome" EXACT [OMIM:612785]
xref: GARD:0010689 {source="MONDO:equivalentTo"}
xref: MESH:C548071 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612785 {source="MONDO:equivalentTo"}
xref: UMLS:C2748555 {source="NCBI:mim2gene_medline", source="OMIM:612785", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C548071
property_value: exactMatch http://identifiers.org/omim/612785
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748555
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome xsd:anyURI {source="GARD:0010689"}

[Term]
id: MONDO:0013010
name: autosomal recessive nonsyndromic deafness 71
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3." [DOID:0110522, PMID:19229252]
synonym: "autosomal recessive deafness 71" EXACT [DOID:0110522]
synonym: "autosomal recessive nonsyndromic deafness type 71" EXACT [DOID:0110522, MONDORULE:2]
synonym: "deafness, autosomal recessive 71" RELATED [MONDO:Lexical, OMIM:612789]
synonym: "deafness, autosomal recessive 71; DFNB71" RELATED [OMIM:612789]
synonym: "DFNB71" EXACT [DOID:0110522, MONDO:Lexical, OMIM:612789]
xref: DOID:0110522 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110522"}
xref: MESH:C567562 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612789 {source="DOID:0110522", source="MONDO:equivalentTo"}
xref: UMLS:C2748554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612789"}
is_a: MONDO:0019588 {source="DC-OMIM:612789", source="DOID:0110522", source="OMIM:612789"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110522
property_value: exactMatch http://identifiers.org/mesh/C567562
property_value: exactMatch http://identifiers.org/omim/612789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748554

[Term]
id: MONDO:0013011
name: atrial heart septal defect 5
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTC1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ASD5" EXACT [DOID:0110110, MONDO:Lexical, OMIM:612794]
synonym: "atrial heart septal defect caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 5" EXACT [DOID:0110110, MONDORULE:1]
synonym: "atrial septal defect 5" EXACT [DOID:0110110, MONDO:Lexical, OMIM:612794]
synonym: "atrial septal defect 5; ASD5" RELATED [OMIM:612794]
synonym: "atrial septal defect type 5" EXACT [MONDORULE:1, OMIM:612794]
xref: DOID:0110110 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110110"}
xref: MESH:C567561 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612794 {source="MONDO:equivalentTo", source="DOID:0110110"}
xref: UMLS:C2748552 {source="OMIM:612794", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="DC-OMIM:612794", source="DOID:0110110", source="MESH:C567561", source="MONDO:Redundant", source="MONDOLEX:0013011", source="OMIM:612794"} ! atrial heart septal defect
property_value: exactMatch DOID:0110110
property_value: exactMatch http://identifiers.org/mesh/C567561
property_value: exactMatch http://identifiers.org/omim/612794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748552

[Term]
id: MONDO:0013012
name: inflammatory bowel disease 27
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3" [DOID:0110902, PMID:18246054]
synonym: "IBD27" EXACT [DOID:0110902, MONDO:Lexical, OMIM:612796]
synonym: "inflammatory bowel disease 27" EXACT [MONDO:Lexical, OMIM:612796]
synonym: "inflammatory bowel disease 27; IBD27" RELATED [OMIM:612796]
synonym: "inflammatory bowel disease type 27" EXACT [DOID:0110902, MONDORULE:2]
xref: DOID:0110902 {source="MONDO:equivalentTo"}
xref: MESH:C567559 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612796 {source="MONDO:equivalentTo", source="DOID:0110902"}
xref: UMLS:C2748550 {source="NCBI:mim2gene_medline", source="OMIM:612796", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC-OMIM:612796", source="DOID:0110902", source="MESH:C567559", source="OMIM:612796"} ! inflammatory bowel disease
property_value: closeMatch Orphanet:206
property_value: closeMatch Orphanet:771
property_value: exactMatch DOID:0110902
property_value: exactMatch http://identifiers.org/mesh/C567559
property_value: exactMatch http://identifiers.org/omim/612796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748550

[Term]
id: MONDO:0013013
name: question mark ears, isolated
synonym: "auricular cleft, congenital" RELATED [OMIM:612798]
synonym: "Cosman deformity of the auricle" RELATED [OMIM:612798]
synonym: "ears, prominent and constricted" RELATED [OMIM:612798]
synonym: "QME" RELATED [MONDO:Lexical, OMIM:612798]
synonym: "question mark ears, isolated" EXACT [MONDO:Lexical, OMIM:612798]
synonym: "question MARK ears, isolated; QME" RELATED [OMIM:612798]
xref: OMIM:612798 {source="MONDO:equivalentTo"}
is_a: MONDO:0000107 {source="ORDO:137888/btnt"} ! auriculocondylar syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748545
property_value: exactMatch http://identifiers.org/omim/612798

[Term]
id: MONDO:0013014
name: spondyloepimetaphyseal dysplasia, aggrecan type
def: "Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." [Orphanet:171866]
subset: gard_rare {source="GARD:0010513"}
subset: ordo_disease {source="Orphanet:171866"}
synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866]
synonym: "SEMDAG" RELATED [OMIM:612813]
synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813]
synonym: "spondyloepimetaphyseal dysplasia, aggrecan type; SEMDAG" RELATED [OMIM:612813]
xref: GARD:0010513 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:171866/attributed", source="ORDO:171866/ntbt", source="Orphanet:171866"}
xref: MESH:C567558 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612813 {source="MONDO:equivalentTo", source="Orphanet:171866", source="ORDO:171866/e"}
xref: Orphanet:171866 {source="MONDO:equivalentTo", source="OMIM:612813"}
xref: SCTID:719165004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:C2748544 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612813", source="Orphanet:171866"}
is_a: MONDO:0016761 {source="DC-OMIM:612813", source="Orphanet:171866", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018239 {source="Orphanet:171866"} ! aggrecan-related bone disorder
property_value: exactMatch http://identifiers.org/mesh/C567558
property_value: exactMatch http://identifiers.org/omim/612813
property_value: exactMatch http://identifiers.org/snomedct/719165004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748544
property_value: exactMatch Orphanet:171866
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type xsd:anyURI {source="GARD:0010513"}

[Term]
id: MONDO:0013015
name: Brugada syndrome 5
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA5" EXACT [DOID:0110222, MONDO:Lexical, OMIM:612838]
synonym: "Brugada syndrome 5" EXACT [MONDO:Lexical, OMIM:612838]
synonym: "Brugada syndrome 5; BRGDA5" RELATED [OMIM:612838]
synonym: "Brugada syndrome caused by mutation in SCN1B" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 5" EXACT [DOID:0110222, MONDORULE:1, OMIM:612838]
synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:612838]
synonym: "SCN1B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110222 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110222"}
xref: OMIM:612838 {source="MONDO:equivalentTo", source="DOID:0110222"}
xref: UMLS:C2748541 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612838"}
is_a: MONDO:0015263 {source="DC-OMIM:612838", source="DOID:0110222", source="MONDO:Redundant", source="OMIM:612838"} ! Brugada syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748542
property_value: exactMatch DOID:0110222
property_value: exactMatch http://identifiers.org/omim/612838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748541

[Term]
id: MONDO:0013016
name: leukocyte adhesion deficiency 3
def: "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." [Orphanet:99844]
subset: ordo_clinical_subtype {source="Orphanet:99844"}
synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IADD" EXACT [DOID:0110912]
synonym: "integrin Activation deficiency disease" RELATED [OMIM:612840]
synonym: "integrin activation deficiency disease" EXACT [DOID:0110912]
synonym: "lad-1 variant" EXACT [Orphanet:99844]
synonym: "lad-III" EXACT [Orphanet:99844]
synonym: "LAD1 variant" EXACT [DOID:0110912]
synonym: "LAD1V" EXACT [DOID:0110912]
synonym: "LAD3" EXACT [DOID:0110912, MONDO:Lexical, OMIM:612840]
synonym: "leukocyte adhesion deficiency 1 variant" EXACT [DOID:0110912, OMIM:612840]
synonym: "leukocyte adhesion deficiency 3" EXACT [OMIM:612840]
synonym: "leukocyte adhesion deficiency caused by mutation in FERMT3" EXACT [MONDO:design_pattern]
synonym: "leukocyte adhesion deficiency type 3" EXACT [DOID:0110912, MONDORULE:1]
synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912]
synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840]
synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840]
synonym: "leukocyte adhesion deficiency, type III; LAD3" RELATED [OMIM:612840]
synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844]
xref: DOID:0110912 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="Orphanet:99844", source="ORDO:99844/attributed", source="ORDO:99844/ntbt"}
xref: MESH:C567555 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612840 {source="ORDO:99844/e", source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo"}
xref: Orphanet:99844 {source="DOID:0110912", source="OMIM:612840", source="MONDO:equivalentTo"}
xref: UMLS:C2748536 {source="NCBI:mim2gene_medline", source="OMIM:612840", source="Orphanet:99844", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0017570 {source="DOID:0110912", source="MONDO:Redundant", source="Orphanet:99844"} ! leukocyte adhesion deficiency
is_a: MONDO:0019026 ! autosomal recessive osteopetrosis
property_value: exactMatch DOID:0110912
property_value: exactMatch http://identifiers.org/mesh/C567555
property_value: exactMatch http://identifiers.org/omim/612840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748536
property_value: exactMatch Orphanet:99844

[Term]
id: MONDO:0013017
name: hypotrichosis 5
def: "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3." [DOID:0110702, PMID:16185270]
synonym: "hypotrichosis 5" EXACT [MONDO:Lexical, OMIM:612841]
synonym: "hypotrichosis 5; HYPT5" RELATED [OMIM:612841]
synonym: "hypotrichosis type 5" EXACT [DOID:0110702, MONDORULE:1]
synonym: "HYPT5" RELATED [MONDO:Lexical, OMIM:612841]
synonym: "hypt5" EXACT [DOID:0110702]
synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [DOID:0110702, OMIM:612841]
synonym: "Muhh2" EXACT [DOID:0110702]
xref: DOID:0110702 {source="MONDO:equivalentTo"}
xref: MESH:C567554 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"}
xref: UMLS:C2748535 {source="OMIM:612841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis
property_value: exactMatch DOID:0110702
property_value: exactMatch http://identifiers.org/mesh/C567554
property_value: exactMatch http://identifiers.org/omim/612841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748535

[Term]
id: MONDO:0013018
name: keratosis follicularis spinulosa decalvans, autosomal dominant
synonym: "keratosis follicularis spinulosa decalvans, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612843]
synonym: "keratosis follicularis SPINULOSA decalvans, autosomal dominant; KFSD" RELATED [OMIM:612843]
synonym: "KFSD" RELATED [MONDO:Lexical, OMIM:612843]
xref: MESH:C567553 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612843 {source="MONDO:equivalentTo"}
xref: UMLS:C2748527 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612843"}
is_a: MONDO:0000136 {source="DC-OMIM:612843", source="MONDOLEX:0013018"} ! keratosis follicularis spinulosa decalvans
property_value: exactMatch http://identifiers.org/mesh/C567553
property_value: exactMatch http://identifiers.org/omim/612843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748527

[Term]
id: MONDO:0013019
name: obsolete spondyloepimetaphyseal dysplasia, Pakistani type
is_obsolete: true
replaced_by: MONDO:0019666

[Term]
id: MONDO:0013020
name: narcolepsy 5, susceptibility to
subset: predisposition
synonym: "narcolepsy 5, susceptibility to" RELATED [OMIM:612851]
synonym: "narcolepsy 5, susceptibility to; NRCLP5" RELATED [OMIM:612851]
synonym: "NRCLP5" EXACT [MONDO:Lexical, OMIM:612851]
xref: OMIM:612851 {source="MONDO:equivalentTo"}
xref: UMLS:C2748508 {source="NCBI:mim2gene_medline", source="OMIM:612851", source="MONDO:equivalentTo"}
is_a: MONDO:0016158 {source="DC-OMIM:612851"} ! narcolepsy-cataplexy syndrome
property_value: exactMatch http://identifiers.org/omim/612851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748508

[Term]
id: MONDO:0013021
name: sterile multifocal osteomyelitis with periostitis and pustulosis
def: "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." [NCIT:C119056]
subset: ordo_disease {source="Orphanet:210115"}
synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115]
synonym: "deficiency of interleukin-1 receptor antagonist" RELATED [GARD:0010516]
synonym: "deficiency of the Interleukin-1 receptor antagonist" EXACT [NCIT:C119056]
synonym: "DIRA" EXACT [Orphanet:210115]
synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [OMIM:612852]
synonym: "Interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115]
synonym: "OMPP" EXACT [MONDO:Lexical, OMIM:612852, Orphanet:210115]
synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical, OMIM:612852]
synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis; OMPP" RELATED [OMIM:612852]
xref: GARD:0010516 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: MESH:C557815 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119056 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:612852 {source="ORDO:210115/e", source="MONDO:equivalentTo", source="Orphanet:210115"}
xref: Orphanet:210115 {source="OMIM:612852", source="MONDO:equivalentTo"}
xref: UMLS:C2748507 {source="NCIT:C119056", source="MEDGEN:kboom-pr98-c99", source="OMIM:612852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:210115"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017369 {source="Orphanet:210115"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:210115"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:210115"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/mesh/C557815
property_value: exactMatch http://identifiers.org/omim/612852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748507
property_value: exactMatch NCIT:C119056
property_value: exactMatch Orphanet:210115

[Term]
id: MONDO:0013022
name: restless legs syndrome, susceptibility to, 7
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 7" RELATED [OMIM:612853]
synonym: "restless legs syndrome, susceptibility to, 7; RLS7" RELATED [OMIM:612853]
synonym: "RLS7" EXACT [MONDO:Lexical, OMIM:612853]
xref: OMIM:612853 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:612853", source="MONDOLEX:0013022", source="OMIM:612853"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748506
property_value: exactMatch http://identifiers.org/omim/612853

[Term]
id: MONDO:0013023
name: orofacial cleft 12
synonym: "cleft lip with or without cleft palate, nonsyndromic, 12" RELATED [OMIM:612858]
synonym: "OFC12" EXACT [MONDO:Lexical, OMIM:612858]
synonym: "orofacial cleft 12" EXACT [MONDO:Lexical, OMIM:612858]
synonym: "orofacial cleft 12; OFC12" RELATED [OMIM:612858]
xref: MESH:C567548 {source="MONDO:equivalentTo"}
xref: OMIM:612858 {source="MONDO:equivalentTo"}
xref: UMLS:C2748505 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612858"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:612858"} ! orofacial cleft
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/mesh/C567548
property_value: exactMatch http://identifiers.org/omim/612858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748505

[Term]
id: MONDO:0013024
name: chronic thromboembolic pulmonary hypertension
def: "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." [Orphanet:70591]
subset: gard_rare {source="GARD:0013124"}
subset: ordo_disease {source="Orphanet:70591"}
synonym: "CTEPH" EXACT [Orphanet:70591]
synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862]
synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862]
xref: GARD:0013124 {source="MONDO:equivalentTo"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068739 {source="Orphanet:70591", source="ORDO:70591/e"}
xref: OMIM:612862 {source="Orphanet:70591", source="MONDO:equivalentTo", source="ORDO:70591/e"}
xref: Orphanet:70591 {source="OMIM:612862", source="MONDO:equivalentTo"}
xref: SCTID:233947005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2363973 {source="Orphanet:70591", source="MONDO:equivalentTo", source="ORDO:70591/e"}
is_a: MONDO:0005149 {source="Orphanet:70591"} ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748504
property_value: exactMatch http://identifiers.org/meddra/10068739
property_value: exactMatch http://identifiers.org/omim/612862
property_value: exactMatch http://identifiers.org/snomedct/233947005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363973
property_value: exactMatch Orphanet:70591
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension xsd:anyURI {source="GARD:0013124"}

[Term]
id: MONDO:0013025
name: chromosome 6q24-q25 deletion syndrome
def: "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." [Orphanet:251056]
subset: ordo_malformation_syndrome {source="Orphanet:251056"}
synonym: "6q25 microdeletion syndrome" EXACT [DOID:0060424]
synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [OMIM:612863]
synonym: "chromosome 6q25 microdeletion syndrome" RELATED [GARD:0003764]
synonym: "Del(6)(q25)" EXACT [Orphanet:251056]
synonym: "del(6q25)" EXACT [NCIT:C36470]
synonym: "deletion 6q25" RELATED [GARD:0003764]
synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056]
xref: DOID:0060424 {source="MONDO:equivalentTo"}
xref: GARD:0003764 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:251056", source="ORDO:251056/attributed", source="ORDO:251056/ntbt"}
xref: NCIT:C36470 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:612863 {source="Orphanet:251056", source="ORDO:251056/e", source="DOID:0060424", source="MONDO:equivalentTo"}
xref: Orphanet:251056 {source="OMIM:612863", source="DOID:0060424", source="MONDO:equivalentTo"}
xref: SCTID:719663005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05"}
xref: UMLS:C3150215 {source="OMIM:612863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304527 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:612863", source="DOID:0060424"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016905 {source="MONDOLEX:0013025", source="Orphanet:251056"} ! partial deletion of the long arm of chromosome 6
property_value: exactMatch DOID:0060424
property_value: exactMatch http://identifiers.org/omim/612863
property_value: exactMatch http://identifiers.org/snomedct/719663005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150215
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304527
property_value: exactMatch NCIT:C36470
property_value: exactMatch Orphanet:251056

[Term]
id: MONDO:0013026
name: subepithelial mucinous corneal dystrophy
def: "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." [Orphanet:98959]
subset: ordo_disease {source="Orphanet:98959"}
synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMIM:612867]
synonym: "corneal dystrophy, subepithelial mucinous; SMCD" RELATED [OMIM:612867]
synonym: "SMCD" EXACT [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959]
synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867]
xref: DOID:0060454 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="DOID:0060454", source="ORDO:98959/attributed", source="ORDO:98959/ntbt", source="Orphanet:98959"}
xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612867 {source="DOID:0060454", source="MONDO:equivalentTo", source="ORDO:98959/e", source="Orphanet:98959"}
xref: Orphanet:98959 {source="DOID:0060454", source="MONDO:equivalentTo", source="OMIM:612867"}
xref: SCTID:723582004 {source="MONDO:equivalentTo"}
xref: UMLS:C2748503 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612867", source="Orphanet:98959"}
is_a: MONDO:0000763 {source="DOID:0060454"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98959"} ! superficial corneal dystrophy
property_value: exactMatch DOID:0060454
property_value: exactMatch http://identifiers.org/mesh/C567547
property_value: exactMatch http://identifiers.org/omim/612867
property_value: exactMatch http://identifiers.org/snomedct/723582004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748503
property_value: exactMatch Orphanet:98959

[Term]
id: MONDO:0013027
name: posterior amorphous corneal dystrophy
def: "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." [Orphanet:98971]
subset: ordo_disease {source="Orphanet:98971"}
synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [OMIM:612868]
synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical, OMIM:612868]
synonym: "corneal dystrophy, POSTERIOR amorphous; PACD" RELATED [OMIM:612868]
synonym: "PACD" EXACT [DOID:0060452, MONDO:Lexical, OMIM:612868, Orphanet:98971]
synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868]
synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971]
xref: DOID:0060452 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="ORDO:98971/attributed", source="ORDO:98971/ntbt"}
xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="ORDO:98971/e"}
xref: Orphanet:98971 {source="DOID:0060452", source="MONDO:equivalentTo", source="OMIM:612868"}
xref: SCTID:719296002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2748502 {source="Orphanet:98971", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612868"}
is_a: MONDO:0020213 {source="DOID:0060452", source="MONDOLEX:0013027", source="Orphanet:98971", source="linkedlifedata"} ! stromal corneal dystrophy
property_value: exactMatch DOID:0060452
property_value: exactMatch http://identifiers.org/mesh/C567546
property_value: exactMatch http://identifiers.org/omim/612868
property_value: exactMatch http://identifiers.org/snomedct/719296002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748502
property_value: exactMatch Orphanet:98971

[Term]
id: MONDO:0013028
name: adenosine monophosphate deaminase deficiency
def: "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue." [Orphanet:45]
subset: ordo_disease {source="Orphanet:45"}
synonym: "AMP deaminase deficiency" EXACT [Orphanet:45]
synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45]
xref: ICD10:G71.3 {source="Orphanet:45", source="ORDO:45/attributed", source="ORDO:45/ntbt"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538234 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:equivalentTo"}
xref: Orphanet:45 {source="OMIM:612874", source="MONDO:equivalentTo"}
xref: SCTID:9105005 {source="MONDO:kboom-pr-0.74/0.47/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="Orphanet:45"} ! inborn mitochondrial myopathy
is_a: MONDO:0019236 {source="Orphanet:45"} ! inborn disorder of purine metabolism
property_value: exactMatch http://identifiers.org/mesh/C538234
property_value: exactMatch http://identifiers.org/snomedct/9105005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268123
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931781
property_value: exactMatch Orphanet:45

[Term]
id: MONDO:0013029
name: cerebellar ataxia type 9
synonym: "cerebellar ataxia type 9" EXACT [MONDO:cjm]
synonym: "SCA9" RELATED [MONDO:Lexical, OMIM:612876]
synonym: "spinocerebellar ataxia 9" RELATED [MONDO:Lexical, OMIM:612876]
synonym: "spinocerebellar ataxia 9; SCA9" RELATED [OMIM:612876]
synonym: "spinocerebellar ataxia type 9" RELATED [GARD:0010481]
xref: GARD:0010481 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:612876 {source="MONDO:equivalentTo"}
xref: UMLS:C3887996 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DC-OMIM:612876", source="OMIM:612876"} ! autosomal dominant cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1421994
property_value: exactMatch http://identifiers.org/omim/612876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887996

[Term]
id: MONDO:0013030
name: dilated cardiomyopathy 1BB
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1BB" RELATED [MONDO:Lexical, OMIM:612877]
synonym: "cardiomyopathy, dilated, 1BB; CMD1BB" RELATED [OMIM:612877]
synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9, OMIM:612877]
synonym: "CMD1BB" EXACT [DOID:0110458, MONDO:Lexical, OMIM:612877]
synonym: "dilated cardiomyopathy type 1BB" EXACT [DOID:0110458, MONDORULE:9]
synonym: "DSG2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern]
xref: DOID:0110458 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110458"}
xref: MESH:C567877 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612877 {source="DOID:0110458", source="MONDO:equivalentTo"}
xref: UMLS:C2752072 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612877"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110458
property_value: exactMatch http://identifiers.org/mesh/C567877
property_value: exactMatch http://identifiers.org/omim/612877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752072

[Term]
id: MONDO:0013031
name: chromosome 5Q14.3 deletion syndrome, distal
synonym: "chromosome 5Q14.3 deletion syndrome, distal" EXACT [OMIM:612881]
synonym: "heterotopia, periventricular, associated with chromosome 5Q deletion" RELATED [OMIM:612881]
synonym: "periventricular nodular heterotopia 5" RELATED [OMIM:612881]
xref: MESH:C567876 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612881 {source="MONDO:equivalentTo"}
xref: UMLS:C2752071 {source="OMIM:612881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020341 {source="DC-OMIM:612881", source="MESH:C567876", source="MONDOLEX:0013031"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/mesh/C567876
property_value: exactMatch http://identifiers.org/omim/612881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752071

[Term]
id: MONDO:0013032
name: epilepsy, idiopathic generalized, susceptibility to, 8
def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CASR generalised epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG8" RELATED [MONDO:Lexical, OMIM:612899]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612899]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 8; EIG8" RELATED [OMIM:612899]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:612899]
synonym: "generalised epilepsy caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899]
xref: OMIM:612899 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752062
property_value: exactMatch http://identifiers.org/omim/612899

[Term]
id: MONDO:0013033
name: cerebral palsy, spastic quadriplegic, 2
def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebral palsy, spastic quadriplegic, 2" EXACT [MONDO:Lexical, OMIM:612900]
synonym: "cerebral palsy, spastic quadriplegic, 2; CPSQ2" RELATED [OMIM:612900]
synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1, OMIM:612900]
synonym: "CPSQ2" RELATED [MONDO:Lexical, OMIM:612900]
synonym: "KANK1 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic quadriplegia caused by mutation in KANK1" EXACT [MONDO:design_pattern]
xref: MESH:C567867 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612900 {source="MONDO:equivalentTo"}
xref: UMLS:C2752061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612900"}
is_a: MONDO:0016215 {source="DC-OMIM:612900", source="MONDO:Redundant", source="OMIM:612900"} ! spastic quadriplegia
property_value: exactMatch http://identifiers.org/mesh/C567867
property_value: exactMatch http://identifiers.org/omim/612900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752061

[Term]
id: MONDO:0013034
name: keratosis palmoplantaris striata 2
def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908]
synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908]
synonym: "keratosis palmoplantaris striata II; PPKS2" RELATED [OMIM:612908]
synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1, OMIM:612908]
synonym: "PPKS2" RELATED [MONDO:Lexical, OMIM:612908]
synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908]
synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern]
xref: MESH:C565102 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612908 {source="MONDO:equivalentTo"}
xref: UMLS:C1852127 {source="OMIM:612908", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018865 {source="MONDO:Redundant", source="ORDO:50942/btnt"} ! striate palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/mesh/C565102
property_value: exactMatch http://identifiers.org/omim/612908
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852127

[Term]
id: MONDO:0013035
name: orofaciodigital syndrome XI
def: "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." [Orphanet:141000]
subset: gard_rare {source="GARD:0004118"}
subset: ordo_malformation_syndrome {source="Orphanet:141000"}
synonym: "Gabrielli syndrome" RELATED [OMIM:612913]
synonym: "OFD syndrome 11" RELATED [GARD:0004118]
synonym: "OFD11" EXACT [MONDO:Lexical, OMIM:612913, Orphanet:141000]
synonym: "Ofds 11" RELATED [OMIM:612913]
synonym: "oral facial digital syndrome 11" RELATED [GARD:0004118]
synonym: "oral facial digital syndrome type 11" RELATED [GARD:0004118]
synonym: "oral-facial-digital syndrome type 11" EXACT [Orphanet:141000]
synonym: "oral-Facial-digital syndrome with skeletal anomalies" RELATED [OMIM:612913]
synonym: "oral-facial-digital syndrome, Gabrielli type" EXACT [Orphanet:141000]
synonym: "oral-Facial-digital syndrome, type 11" RELATED [OMIM:612913]
synonym: "orofaciodigital syndrome 11" RELATED [GARD:0004118]
synonym: "orofaciodigital syndrome type 11" RELATED [Orphanet:141000]
synonym: "orofaciodigital syndrome type XI" EXACT [DOID:0060381, MONDORULE:3]
synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913]
synonym: "orofaciodigital syndrome XI; OFD11" RELATED [OMIM:612913]
synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000]
xref: DOID:0060381 {source="MONDO:equivalentTo"}
xref: GARD:0004118 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:141000", source="ORDO:141000/attributed", source="ORDO:141000/ntbt"}
xref: MESH:C557821 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060381"}
xref: OMIM:612913 {source="ORDO:141000/e", source="Orphanet:141000", source="MONDO:equivalentTo", source="DOID:0060381"}
xref: Orphanet:141000 {source="MONDO:equivalentTo", source="OMIM:612913", source="DOID:0060381"}
xref: SCTID:718681002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.35"}
is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="Orphanet:141000", source="linkedlifedata"} ! orofaciodigital syndrome
property_value: exactMatch DOID:0060381
property_value: exactMatch http://identifiers.org/mesh/C557821
property_value: exactMatch http://identifiers.org/omim/612913
property_value: exactMatch http://identifiers.org/snomedct/718681002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752048
property_value: exactMatch Orphanet:141000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 xsd:anyURI {source="GARD:0004118"}

[Term]
id: MONDO:0013036
name: Zechi-Ceide syndrome
subset: gard_rare {source="GARD:0010582"}
subset: ordo_malformation_syndrome {source="Orphanet:217017"}
synonym: "occipital atretic cephalocele, unusual facies and large feet" RELATED [GARD:0010582]
synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [OMIM:612916]
synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXACT [Orphanet:217017]
synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582]
synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916]
xref: GARD:0010582 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:217017", source="ORDO:217017/attributed", source="ORDO:217017/ntbt"}
xref: MESH:C567865 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="ORDO:217017/e"}
xref: Orphanet:217017 {source="MONDO:equivalentTo", source="OMIM:612916"}
xref: UMLS:C2752047 {source="Orphanet:217017", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:612916"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217017", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:217017"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567865
property_value: exactMatch http://identifiers.org/omim/612916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752047
property_value: exactMatch Orphanet:217017
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome xsd:anyURI {source="GARD:0010582"}

[Term]
id: MONDO:0013037
name: Giacheti syndrome
synonym: "Giacheti syndrome" EXACT [OMIM:612917]
synonym: "Marfanoid habitus and specific language and learning disabilities" RELATED [OMIM:612917]
xref: MESH:C567864 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612917 {source="MONDO:equivalentTo"}
xref: UMLS:C2752043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612917"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567864
property_value: exactMatch http://identifiers.org/omim/612917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752043

[Term]
id: MONDO:0013038
name: CLOVES syndrome
def: "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." [Orphanet:140944]
subset: ordo_malformation_syndrome {source="Orphanet:140944"}
synonym: "CLOVE syndrome" RELATED [OMIM:612918]
synonym: "CLOVES syndrome" EXACT [OMIM:612918]
synonym: "congenital lipomatous overgrowth - vascular malformation - epidermal nevi" RELATED [GARD:0010939]
synonym: "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" RELATED [OMIM:612918]
synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [DOID:0080351]
synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities" RELATED [OMIM:612918]
synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" EXACT [Orphanet:140944]
synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" EXACT [Orphanet:140944]
xref: DOID:0080351 {source="MONDO:equivalentTo"}
xref: GARD:0010939 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:10939 {source="DOID:0080351"}
xref: ICD10:Q87.3 {source="DOID:0080351", source="ORDO:140944/attributed", source="ORDO:140944/ntbt", source="Orphanet:140944"}
xref: MESH:C567863 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612918 {source="DOID:0080351", source="MONDO:equivalentTo", source="ORDO:140944/e", source="Orphanet:140944"}
xref: ORDO:140944 {source="DOID:0080351"}
xref: Orphanet:140944 {source="OMIM:612918", source="MONDO:equivalentTo"}
xref: SCTID:719475006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
xref: UMLS:C2752042 {source="OMIM:612918", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0002254 {source="DOID:0080351"} ! syndromic disease
is_a: MONDO:0005073 {source="Orphanet:140944"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:140944", source="indirect"} ! inherited skin tumor
is_a: MONDO:0016235 {source="Orphanet:140944"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019296 {source="Orphanet:140944"} ! subcutaneous tissue disease
property_value: exactMatch DOID:0080351
property_value: exactMatch http://identifiers.org/mesh/C567863
property_value: exactMatch http://identifiers.org/omim/612918
property_value: exactMatch http://identifiers.org/snomedct/719475006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752042
property_value: exactMatch Orphanet:140944

[Term]
id: MONDO:0013039
name: three M syndrome 2
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3-M syndrome caused by mutation in OBSL1" EXACT [MONDO:design_pattern]
synonym: "3M syndrome 2" RELATED [OMIM:612921]
synonym: "3M2" RELATED [MONDO:Lexical, OMIM:612921]
synonym: "OBSL1 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "three M syndrome 2" EXACT [MONDO:Lexical, OMIM:612921]
synonym: "three M syndrome 2; 3M2" RELATED [OMIM:612921]
synonym: "three M syndrome type 2" EXACT [MONDORULE:1, OMIM:612921]
xref: MESH:C567862 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612921 {source="MONDO:equivalentTo"}
xref: UMLS:C2752041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612921"}
is_a: MONDO:0007477 {source="DC-OMIM:612921", source="MONDO:Redundant", source="OMIM:612921"} ! 3-M syndrome
property_value: exactMatch http://identifiers.org/mesh/C567862
property_value: exactMatch http://identifiers.org/omim/612921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752041

[Term]
id: MONDO:0013040
name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
subset: ordo_etiological_subtype {source="Orphanet:93576"}
subset: predisposition
synonym: "aHUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "AHUS, susceptibility to, 2" RELATED [OMIM:612922]
synonym: "aHUS2" RELATED [MONDO:Lexical, OMIM:612922]
synonym: "atypical HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "D-HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612922]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS2" RELATED [OMIM:612922]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922]
synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922]
xref: ICD10:D58.8 {source="Orphanet:93576", source="ORDO:93576/attributed", source="ORDO:93576/ntbt"}
xref: OMIM:612922 {source="ORDO:93576/e", source="MONDO:equivalentTo", source="Orphanet:93576"}
xref: Orphanet:93576 {source="MONDO:equivalentTo", source="OMIM:612922"}
is_a: MONDO:0016244 {source="MONDOLEX:0013040", source="Orphanet:93576"} ! atypical hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752040
property_value: exactMatch http://identifiers.org/omim/612922
property_value: exactMatch Orphanet:93576

[Term]
id: MONDO:0013041
name: atypical hemolytic-uremic syndrome with I factor anomaly
subset: ordo_etiological_subtype {source="Orphanet:93580"}
subset: predisposition
synonym: "aHUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "aHUS, susceptibility to, 3" RELATED [OMIM:612923]
synonym: "aHUS3" RELATED [MONDO:Lexical, OMIM:612923]
synonym: "atypical HUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "D-HUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612923]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3; AHUS3" RELATED [OMIM:612923]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923]
synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580]
synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923]
xref: ICD10:D58.8 {source="ORDO:93580/attributed", source="ORDO:93580/ntbt", source="Orphanet:93580"}
xref: OMIM:612923 {source="MONDO:equivalentTo", source="ORDO:93580/e", source="Orphanet:93580"}
xref: Orphanet:93580 {source="MONDO:equivalentTo", source="OMIM:612923"}
is_a: MONDO:0016244 {source="MONDOLEX:0013041", source="Orphanet:93580"} ! atypical hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752039
property_value: exactMatch http://identifiers.org/omim/612923
property_value: exactMatch Orphanet:93580

[Term]
id: MONDO:0013042
name: atypical hemolytic-uremic syndrome with B factor anomaly
subset: ordo_etiological_subtype {source="Orphanet:93578"}
subset: predisposition
synonym: "aHUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "aHUS, susceptibility to, 4" RELATED [OMIM:612924]
synonym: "aHUS4" RELATED [MONDO:Lexical, OMIM:612924]
synonym: "atypical HUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "D-HUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612924]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4; AHUS4" RELATED [OMIM:612924]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924]
synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578]
synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924]
xref: ICD10:D58.8 {source="ORDO:93578/attributed", source="ORDO:93578/ntbt", source="Orphanet:93578"}
xref: OMIM:612924 {source="ORDO:93578/e", source="MONDO:equivalentTo", source="Orphanet:93578"}
xref: Orphanet:93578 {source="MONDO:equivalentTo", source="OMIM:612924"}
is_a: MONDO:0016244 {source="MONDOLEX:0013042", source="Orphanet:93578"} ! atypical hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752038
property_value: exactMatch http://identifiers.org/omim/612924
property_value: exactMatch Orphanet:93578

[Term]
id: MONDO:0013043
name: atypical hemolytic-uremic syndrome with C3 anomaly
subset: ordo_etiological_subtype {source="Orphanet:93575"}
subset: predisposition
synonym: "aHUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "Ahus, susceptibility to, 5" RELATED [OMIM:612925]
synonym: "AHUS5" RELATED [MONDO:Lexical, OMIM:612925]
synonym: "atypical HUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "D-HUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612925]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5; AHUS5" RELATED [OMIM:612925]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925]
synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575]
synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925]
xref: ICD10:D58.8 {source="Orphanet:93575", source="ORDO:93575/attributed", source="ORDO:93575/ntbt"}
xref: OMIM:612925 {source="ORDO:93575/e", source="Orphanet:93575", source="MONDO:equivalentTo"}
xref: Orphanet:93575 {source="MONDO:equivalentTo", source="OMIM:612925"}
is_a: MONDO:0016244 {source="MONDOLEX:0013043", source="Orphanet:93575"} ! atypical hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752037
property_value: exactMatch http://identifiers.org/omim/612925
property_value: exactMatch Orphanet:93575

[Term]
id: MONDO:0013044
name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly
subset: ordo_etiological_subtype {source="Orphanet:217023"}
subset: predisposition
synonym: "aHUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "Ahus, susceptibility to, 6" RELATED [OMIM:612926]
synonym: "AHUS6" RELATED [MONDO:Lexical, OMIM:612926]
synonym: "atypical HUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "D-HUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612926]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6; AHUS6" RELATED [OMIM:612926]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926]
synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926]
xref: ICD10:D58.8 {source="ORDO:217023/attributed", source="ORDO:217023/ntbt", source="Orphanet:217023"}
xref: OMIM:612926 {source="MONDO:equivalentTo", source="Orphanet:217023", source="ORDO:217023/e"}
xref: Orphanet:217023 {source="MONDO:equivalentTo", source="OMIM:612926"}
is_a: MONDO:0001549 {source="MONDO:0013044/inferred", source="MONDO:Redundant", source="MONDOLEX:0013044/inferred", source="OMIM:612926", source="indirect"} ! hemolytic-uremic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752036
property_value: exactMatch http://identifiers.org/omim/612926
property_value: exactMatch Orphanet:217023

[Term]
id: MONDO:0013045
name: mycobacterium tuberculosis, susceptibility to, 3
subset: predisposition
synonym: "MTBS3" RELATED [OMIM:612929]
synonym: "mycobacterium tuberculosis, susceptibility to, 3" EXACT [OMIM:612929]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612929]
xref: OMIM:612929 {source="MONDO:equivalentTo"}
is_a: MONDO:0000070 {source="DC-OMIM:612929", source="MONDOLEX:0013045"} ! mycobacterium tuberculosis, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752035
property_value: exactMatch http://identifiers.org/omim/612929

[Term]
id: MONDO:0013046
name: glycogen storage disease due to muscle beta-enolase deficiency
def: "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." [Orphanet:99849]
subset: ordo_disease {source="Orphanet:99849"}
synonym: "enolase 3 deficiency" RELATED [OMIM:612932]
synonym: "enolase-Beta deficiency" RELATED [OMIM:612932]
synonym: "glycogen storage disease 13" RELATED [GARD:0002125, OMIM:612932]
synonym: "glycogen storage disease type 13" EXACT [MONDORULE:2, OMIM:612932]
synonym: "glycogen storage disease XIII" RELATED [MONDO:Lexical, OMIM:612932]
synonym: "glycogen storage disease XIII; GSD13" RELATED [OMIM:612932]
synonym: "glycogenosis due to muscle beta-enolase deficiency" EXACT [Orphanet:99849]
synonym: "glycogenosis type 13" EXACT [Orphanet:99849]
synonym: "GSD 13" RELATED [OMIM:612932]
synonym: "GSD due to muscle beta-enolase deficiency" EXACT [Orphanet:99849]
synonym: "GSD13" RELATED [MONDO:Lexical, OMIM:612932]
synonym: "GSDXIII" EXACT [Orphanet:99849]
synonym: "muscle enolase deficiency" EXACT [Orphanet:99849]
synonym: "muscular enolase deficiency" EXACT [Orphanet:99849]
xref: GARD:0002125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:99849/attributed", source="ORDO:99849/ntbt", source="Orphanet:99849"}
xref: MESH:C567861 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612932 {source="MONDO:equivalentTo", source="ORDO:99849/e", source="Orphanet:99849"}
xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"}
xref: UMLS:C2752027 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99849", source="OMIM:612932", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="Orphanet:99849"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:99849"} ! muscular glycogenosis
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C567861
property_value: exactMatch http://identifiers.org/omim/612932
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752027
property_value: exactMatch Orphanet:99849

[Term]
id: MONDO:0013047
name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue ( rhabdomyolysis ), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." [GARD:0003160]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:284426"}
synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426]
synonym: "glycogen storage disease XI" RELATED [GARD:0003160, MESH:C538133]
synonym: "glycogen storage disease XI; GSD11" RELATED AMBIGUOUS [OMIM:612933]
synonym: "glycogenosis due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426]
synonym: "glycogenosis type 11" RELATED AMBIGUOUS [Orphanet:284426]
synonym: "GSD 11" RELATED AMBIGUOUS [OMIM:612933]
synonym: "GSD due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426]
synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:284426]
synonym: "GSD XI" RELATED [MESH:C538133]
synonym: "GSD11" RELATED AMBIGUOUS [MESH:C538133, OMIM:612933]
synonym: "lactate dehydrogenase A deficiency" EXACT [MESH:C538133, OMIM:612933, Orphanet:284426]
synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160]
synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426]
synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0003160 {source="MONDO:equivalentTo"}
xref: HGNC:6535 {source="GARD:0003160"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:284426/attributed", source="ORDO:284426/ntbt", source="Orphanet:284426"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538133 {source="MONDO:equivalentTo"}
xref: OMIM:612933 {source="MONDO:equivalentTo", source="ORDO:284426/e", source="Orphanet:284426"}
xref: Orphanet:284426 {source="MONDO:equivalentTo", source="OMIM:612933"}
xref: SCTID:237982007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0016118 {source="Orphanet:284426"} ! muscular glycogenosis
is_a: MONDO:0016527 {source="MONDOLEX:0013047", source="Orphanet:284426"} ! glycogen storage disease due to lactate dehydrogenase deficiency
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752022
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931743
property_value: exactMatch http://identifiers.org/mesh/C538133
property_value: exactMatch http://identifiers.org/omim/612933
property_value: exactMatch http://identifiers.org/snomedct/237982007
property_value: exactMatch Orphanet:284426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency xsd:anyURI {source="GARD:0003160"}

[Term]
id: MONDO:0013048
name: hereditary spastic paraplegia 50
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802]
synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936]
synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [OMIM:612936]
synonym: "CPSQ3" EXACT EXCLUDE [DOID:0110802]
synonym: "hereditary spastic paraplegia caused by mutation in AP4M1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE:2]
synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936]
synonym: "spastic paraplegia 50, autosomal recessive; SPG50" RELATED [OMIM:612936]
synonym: "spastic quadriplegic cerebral palsy 3" EXACT [DOID:0110802]
synonym: "SPG50" EXACT [DOID:0110802, MONDO:Lexical, OMIM:612936]
xref: DOID:0110802 {source="MONDO:equivalentTo"}
xref: MESH:C567858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"}
xref: UMLS:C2752008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612936"}
is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia
is_a: MONDO:0100176 ! AP-4 deficiency syndrome
property_value: exactMatch DOID:0110802
property_value: exactMatch http://identifiers.org/mesh/C567858
property_value: exactMatch http://identifiers.org/omim/612936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752008

[Term]
id: MONDO:0013049
name: DPM3-CDG
def: "DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term)." [Orphanet:263494]
subset: ordo_disease {source="Orphanet:263494"}
synonym: "carbohydrate deficient glycoprotein syndrome type Io" EXACT [Orphanet:263494]
synonym: "CDG Io" RELATED [OMIM:612937]
synonym: "CDG syndrome type Io" EXACT [Orphanet:263494]
synonym: "CDG-Io" EXACT [Orphanet:263494]
synonym: "Cdg1(Dpm3)" RELATED [OMIM:612937]
synonym: "CDG1O" EXACT [MONDO:Lexical, OMIM:612937, Orphanet:263494]
synonym: "CDGIo" RELATED [GARD:0012395]
synonym: "congenital disorder of glycosylation type 1o" EXACT [Orphanet:263494]
synonym: "congenital disorder of glycosylation type Io" EXACT [Orphanet:263494]
synonym: "congenital disorder of glycosylation, type Io" RELATED [MONDO:Lexical, OMIM:612937]
synonym: "congenital disorder of glycosylation, type Io; CDG1O" RELATED [OMIM:612937]
synonym: "DG1O" RELATED [GARD:0012395]
synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395]
xref: GARD:0012395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:263494", source="ORDO:263494/attributed", source="ORDO:263494/ntbt"}
xref: MESH:C567857 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612937 {source="ORDO:263494/e", source="Orphanet:263494", source="MONDO:equivalentTo"}
xref: Orphanet:263494 {source="MONDO:equivalentTo", source="OMIM:612937"}
xref: SCTID:725044000 {source="MONDO:equivalentTo"}
xref: UMLS:C2752007 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:263494", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612937"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005500 {source="DC-OMIM:612937", source="MONDOLEX:0013049"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017749 {source="Orphanet:263494"} ! disorder of multiple glycosylation
is_a: MONDO:0018276 {source="Orphanet:263494"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018284 {source="Orphanet:263494"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018289 {source="Orphanet:263494"} ! congenital disorder of glycosylation with dilated cardiomyopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C567857
property_value: exactMatch http://identifiers.org/omim/612937
property_value: exactMatch http://identifiers.org/snomedct/725044000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752007
property_value: exactMatch Orphanet:263494

[Term]
id: MONDO:0013050
name: lethal polymalformative syndrome, Boissel type
subset: ordo_malformation_syndrome {source="Orphanet:210144"}
synonym: "GDFD" RELATED [MONDO:Lexical, OMIM:612938]
synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938]
synonym: "growth retardation, developmental delay, and facial dysmorphism; GDFD" RELATED [OMIM:612938]
xref: ICD10:Q87.8 {source="Orphanet:210144", source="ORDO:210144/attributed", source="ORDO:210144/ntbt"}
xref: MESH:C567856 {source="MONDO:equivalentTo"}
xref: OMIM:612938 {source="ORDO:210144/e", source="Orphanet:210144", source="MONDO:equivalentTo"}
xref: Orphanet:210144 {source="MONDO:equivalentTo", source="OMIM:612938"}
is_a: MONDO:0043009 {source="Orphanet:210144"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752001
property_value: exactMatch http://identifiers.org/mesh/C567856
property_value: exactMatch http://identifiers.org/omim/612938
property_value: exactMatch Orphanet:210144

[Term]
id: MONDO:0013051
name: autosomal recessive cutis laxa type 2B
def: "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." [Orphanet:357064]
subset: gard_rare {source="GARD:0001641"}
subset: ordo_disease {source="Orphanet:357064"}
synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064]
synonym: "ARCL2B" EXACT [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064]
synonym: "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cutis laxa type 2, progeroid type" EXACT [Orphanet:357064]
synonym: "autosomal recessive cutis laxa type IIB" RELATED [DOID:0070137]
synonym: "cutis laxa with progeroid features" RELATED [OMIM:612940]
synonym: "cutis laxa, autosomal recessive type 2B" RELATED [GARD:0001641]
synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940]
synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940]
synonym: "cutis laxa, autosomal recessive, type IIB; ARCL2B" RELATED [OMIM:612940]
synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070137 {source="MONDO:equivalentTo"}
xref: GARD:0001641 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:357064/attributed", source="ORDO:357064/ntbt", source="Orphanet:357064"}
xref: ICD10CM:Q82.8 {source="DOID:0070137"}
xref: MESH:C567855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612940 {source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064", source="ORDO:357064/e"}
xref: ORDO:357064 {source="DOID:0070137"}
xref: Orphanet:357064 {source="OMIM:612940", source="MONDO:equivalentTo"}
xref: UMLS:C2751987 {source="OMIM:612940", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:357064", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019573 {source="MONDO:Redundant", source="MONDOLEX:0013051", source="Orphanet:357064"} ! autosomal recessive cutis laxa type 2
property_value: exactMatch DOID:0070137
property_value: exactMatch http://identifiers.org/mesh/C567855
property_value: exactMatch http://identifiers.org/omim/612940
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751987
property_value: exactMatch Orphanet:357064
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b xsd:anyURI {source="GARD:0001641"}

[Term]
id: MONDO:0013052
name: retinitis pigmentosa 42
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KLHL7 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 42" EXACT [MONDO:Lexical, OMIM:612943]
synonym: "retinitis pigmentosa 42; RP42" RELATED [OMIM:612943]
synonym: "retinitis pigmentosa caused by mutation in KLHL7" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 42" EXACT [DOID:0110386, MONDORULE:2, OMIM:612943]
synonym: "RP42" EXACT [DOID:0110386, MONDO:Lexical, OMIM:612943]
xref: DOID:0110386 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110386"}
xref: MESH:C567854 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612943 {source="MONDO:equivalentTo", source="DOID:0110386"}
xref: UMLS:C2751986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612943"}
is_a: MONDO:0019200 {source="DC-OMIM:612943", source="DOID:0110386", source="MESH:C567854", source="MONDO:Redundant", source="OMIM:612943"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110386
property_value: exactMatch http://identifiers.org/mesh/C567854
property_value: exactMatch http://identifiers.org/omim/612943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751986

[Term]
id: MONDO:0013053
name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
def: "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." [Orphanet:217026]
subset: ordo_malformation_syndrome {source="Orphanet:217026"}
synonym: "Hadziselimovic syndrome" EXACT [OMIM:612946, Orphanet:217026]
synonym: "microcephaly-faciocardioskeletal syndrome" EXACT [OMIM:612946, Orphanet:217026]
xref: ICD10:Q87.8 {source="ORDO:217026/attributed", source="ORDO:217026/ntbt", source="Orphanet:217026"}
xref: MESH:C567850 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612946 {source="MONDO:equivalentTo", source="ORDO:217026/e", source="Orphanet:217026"}
xref: Orphanet:217026 {source="MONDO:equivalentTo", source="OMIM:612946"}
xref: SCTID:719395001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2751878 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612946", source="Orphanet:217026"}
is_a: MONDO:0015329 {source="Orphanet:217026"} ! malformation syndrome with short stature
is_a: MONDO:0015506 {source="Orphanet:217026"} ! rare syndrome with cardiac malformations
is_a: MONDO:0043008 {source="Orphanet:217026"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567850
property_value: exactMatch http://identifiers.org/omim/612946
property_value: exactMatch http://identifiers.org/snomedct/719395001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751878
property_value: exactMatch Orphanet:217026

[Term]
id: MONDO:0013054
name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
synonym: "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" EXACT [OMIM:612947]
xref: MESH:C567849 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612947 {source="MONDO:equivalentTo"}
xref: UMLS:C2751870 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612947"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567849
property_value: exactMatch http://identifiers.org/omim/612947
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751870

[Term]
id: MONDO:0013055
name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features
subset: gard_rare {source="GARD:0010683"}
synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features" RELATED [GARD:0010683]
synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features" EXACT [OMIM:612948]
xref: GARD:0010683 {source="MONDO:equivalentTo"}
xref: MESH:C548086 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612948 {source="MONDO:equivalentTo"}
xref: UMLS:C2751864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612948"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C548086
property_value: exactMatch http://identifiers.org/omim/612948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751864
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features xsd:anyURI {source="GARD:0010683"}

[Term]
id: MONDO:0013056
name: epileptic encephalopathy with global cerebral demyelination
def: "Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." [Orphanet:353217]
subset: ordo_disease {source="Orphanet:353217"}
synonym: "AGC1 deficiency" EXACT [DOID:0080349]
synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [OMIM:612949]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A12" EXACT []
synonym: "EIEE39" RELATED [OMIM:612949]
synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [DOID:0080349]
synonym: "epileptic encephalopathy, early infantile, 39" RELATED [OMIM:612949]
synonym: "epileptic encephalopathy, early infantile, 39; EIEE39" RELATED [OMIM:612949]
synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949]
synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217]
synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080349 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="ORDO:353217/attributed", source="ORDO:353217/ntbt", source="Orphanet:353217"}
xref: MESH:C567847 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="ORDO:353217/e", source="DOID:0080349"}
xref: ORDO:353217 {source="DOID:0080349"}
xref: Orphanet:353217 {source="MONDO:equivalentTo", source="OMIM:612949"}
xref: SCTID:726702005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751855 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612949"}
xref: UMLS:C4512050 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016021 {source="DOID:0080349", source="OMIM:612949"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016801 {source="Orphanet:353217"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020070 {source="MONDO:Redundant", source="Orphanet:353217"} ! neonatal epilepsy syndrome
property_value: exactMatch DOID:0080349
property_value: exactMatch http://identifiers.org/mesh/C567847
property_value: exactMatch http://identifiers.org/omim/612949
property_value: exactMatch http://identifiers.org/snomedct/726702005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751855
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512050
property_value: exactMatch Orphanet:353217

[Term]
id: MONDO:0013057
name: PSORS12
synonym: "psoriasis 12, susceptibility to" RELATED [MONDO:Lexical, OMIM:612950]
synonym: "psoriasis 12, susceptibility to; PSORS12" RELATED [OMIM:612950]
synonym: "PSORS12" EXACT [MONDO:Lexical, OMIM:612950]
xref: OMIM:612950 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 {source="DC-OMIM:612950", source="OMIM:612950"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751854
property_value: exactMatch http://identifiers.org/omim/612950

[Term]
id: MONDO:0013058
name: cystic leukoencephalopathy without megalencephaly
def: "Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." [Orphanet:85136]
subset: ordo_disease {source="Orphanet:85136"}
synonym: "CLWM" EXACT [Orphanet:85136]
synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951]
synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199]
xref: GARD:0013199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="Orphanet:85136", source="ORDO:85136/attributed", source="ORDO:85136/ntbt"}
xref: MESH:C567845 {source="ORDO:85136/e", source="Orphanet:85136", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612951 {source="ORDO:85136/e", source="Orphanet:85136", source="MONDO:equivalentTo"}
xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"}
xref: SCTID:720825005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2751843 {source="ORDO:85136/e", source="Orphanet:85136", source="OMIM:612951", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:85136"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/mesh/C567845
property_value: exactMatch http://identifiers.org/omim/612951
property_value: exactMatch http://identifiers.org/snomedct/720825005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751843
property_value: exactMatch Orphanet:85136

[Term]
id: MONDO:0013059
name: Aicardi-Goutieres syndrome 5
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGS5" RELATED [MONDO:Lexical, OMIM:612952]
synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, OMIM:612952]
synonym: "Aicardi-Goutieres syndrome 5; AGS5" RELATED [OMIM:612952]
synonym: "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1, OMIM:612952]
synonym: "SAMHD1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SAMHD1-related Aicardi-Goutieres syndrome" RELATED [GARD:0010151]
xref: GARD:0010151 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612952 {source="MONDO:equivalentTo"}
is_a: MONDO:0018866 {source="DC-OMIM:612952", source="MONDO:Redundant", source="OMIM:612952"} ! Aicardi-Goutieres syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749659
property_value: exactMatch http://identifiers.org/mesh/C535608
property_value: exactMatch http://identifiers.org/omim/612952

[Term]
id: MONDO:0013060
name: autosomal recessive Parkinson disease 14
def: "adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." [Orphanet:199351]
subset: ordo_disease {source="Orphanet:199351"}
synonym: "adult-onset dystonia - parkinsonism" RELATED [Orphanet:199351]
synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MONDORULE:2]
synonym: "autosomal recessive Parkinson's disease 14" RELATED [DOID:0060900]
synonym: "dystonia-Parkinsonism Adult-onset" EXACT [DOID:0060900]
synonym: "dystonia-Parkinsonism, adult-onset" RELATED [OMIM:612953]
synonym: "dystonia-parkinsonism, Paisan-Ruiz type" EXACT [Orphanet:199351]
synonym: "hereditary late onset Parkinson disease caused by mutation in PLA2G6" EXACT [MONDO:design_pattern]
synonym: "PARK14" EXACT [MONDO:Lexical, OMIM:612953, Orphanet:199351]
synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612953]
synonym: "Parkinson disease 14, autosomal recessive; PARK14" RELATED [OMIM:612953]
synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351]
xref: DOID:0060900 {source="MONDO:equivalentTo"}
xref: GARD:0012568 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.1 {source="Orphanet:199351", source="ORDO:199351/attributed", source="ORDO:199351/ntbt"}
xref: MESH:C567844 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="DOID:0060900", source="ORDO:199351/e"}
xref: Orphanet:199351 {source="MONDO:equivalentTo", source="OMIM:612953"}
xref: SCTID:720466001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C2751842 {source="Orphanet:199351", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612953"}
is_a: MONDO:0017998 {source="Orphanet:199351"} ! PLA2G6-associated neurodegeneration
is_a: MONDO:0018329 {source="Orphanet:199351"} ! persistent combined dystonia
is_a: MONDO:0018466 {source="DOID:0060900", source="MONDO:Redundant", source="Orphanet:411602"} ! hereditary late onset Parkinson disease
property_value: exactMatch DOID:0060900
property_value: exactMatch http://identifiers.org/mesh/C567844
property_value: exactMatch http://identifiers.org/omim/612953
property_value: exactMatch http://identifiers.org/snomedct/720466001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751842
property_value: exactMatch Orphanet:199351

[Term]
id: MONDO:0013061
name: myofibrillar myopathy 6
def: "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." [Orphanet:199340]
subset: ordo_disease {source="Orphanet:199340"}
synonym: "BAG3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "BAG3-related myofibrillar myopathy" RELATED [DOID:0080097]
synonym: "MFM6" RELATED [MONDO:Lexical, OMIM:612954]
synonym: "muscular dystrophy, Selcen type" RELATED [Orphanet:199340]
synonym: "myofibrillar myopathy (disease) caused by mutation in BAG3" EXACT []
synonym: "myofibrillar myopathy type 6" EXACT [DOID:0080097, MONDORULE:1]
synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954]
synonym: "myopathy, myofibrillar, 6; MFM6" RELATED [OMIM:612954]
synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954]
synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954]
xref: DOID:0080097 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="Orphanet:199340", source="ORDO:199340/attributed", source="ORDO:199340/ntbt"}
xref: MESH:C567843 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="ORDO:199340/e"}
xref: Orphanet:199340 {source="MONDO:equivalentTo", source="OMIM:612954"}
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751831
property_value: exactMatch DOID:0080097
property_value: exactMatch http://identifiers.org/mesh/C567843
property_value: exactMatch http://identifiers.org/omim/612954
property_value: exactMatch Orphanet:199340

[Term]
id: MONDO:0013062
name: long QT syndrome 12
def: "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955]
synonym: "long QT syndrome 12; LQT12" RELATED [OMIM:612955]
synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955]
synonym: "LQT12" EXACT [DOID:0110653, MONDO:Lexical, OMIM:612955]
synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110653 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110653"}
xref: MESH:C567842 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612955 {source="MONDO:equivalentTo", source="DOID:0110653"}
xref: UMLS:C2751830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612955"}
is_a: MONDO:0019171 {source="OMIM:612955", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: exactMatch DOID:0110653
property_value: exactMatch http://identifiers.org/mesh/C567842
property_value: exactMatch http://identifiers.org/omim/612955
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751830

[Term]
id: MONDO:0013063
name: ventricular fibrillation, paroxysmal familial, 2
def: "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DPP6 ventricular fibrillation (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular fibrillation (disease) caused by mutation in DPP6" EXACT []
synonym: "ventricular fibrillation, paroxysmal familial, 2" EXACT [MONDO:Lexical, OMIM:612956]
synonym: "ventricular fibrillation, paroxysmal familial, 2; VF2" RELATED [OMIM:612956]
synonym: "ventricular fibrillation, paroxysmal familial, type 2" EXACT [MONDORULE:1, OMIM:612956]
synonym: "VF2" RELATED [MONDO:Lexical, OMIM:612956]
xref: MESH:C567841 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612956 {source="MONDO:equivalentTo"}
xref: UMLS:C2751829 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612956"}
is_a: MONDO:0000190 {source="MESH:C567841", source="MONDO:Redundant", source="indirect"} ! ventricular fibrillation (disease)
property_value: exactMatch http://identifiers.org/mesh/C567841
property_value: exactMatch http://identifiers.org/omim/612956
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751829

[Term]
id: MONDO:0013064
name: multiple synostoses syndrome 3
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FGF9 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple synostoses syndrome 3" EXACT [MONDO:Lexical, OMIM:612961]
synonym: "multiple synostoses syndrome 3; SYNS3" RELATED [OMIM:612961]
synonym: "multiple synostoses syndrome caused by mutation in FGF9" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1, OMIM:612961]
synonym: "SYNS3" RELATED [MONDO:Lexical, OMIM:612961]
xref: MESH:C567839 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612961 {source="MONDO:equivalentTo"}
xref: UMLS:C2751826 {source="NCBI:mim2gene_medline", source="OMIM:612961", source="MONDO:equivalentTo"}
is_a: MONDO:0017923 {source="DC-OMIM:612961", source="MONDO:Redundant", source="OMIM:612961"} ! multiple synostoses syndrome
property_value: exactMatch http://identifiers.org/mesh/C567839
property_value: exactMatch http://identifiers.org/omim/612961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751826

[Term]
id: MONDO:0013065
name: premature ovarian failure 7
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "adrenal insufficiency, Nr5A1-related" RELATED [OMIM:612964]
synonym: "NR5A1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof7" RELATED [MONDO:Lexical, OMIM:612964]
synonym: "premature ovarian failure 7" EXACT [MONDO:Lexical, OMIM:612964]
synonym: "premature ovarian failure 7; Pof7" RELATED [OMIM:612964]
synonym: "premature ovarian failure type 7" EXACT [MONDORULE:1, OMIM:612964]
synonym: "primary ovarian failure caused by mutation in NR5A1" EXACT [MONDO:design_pattern]
xref: MESH:C567838 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612964 {source="MONDO:equivalentTo"}
xref: UMLS:C2751825 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612964"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/mesh/C567838
property_value: exactMatch http://identifiers.org/omim/612964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751825

[Term]
id: MONDO:0013066
name: 46,XY sex reversal 3
synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" RELATED [OMIM:612965]
synonym: "46,XY sex reversal 3" EXACT [MONDO:Lexical, OMIM:612965]
synonym: "46,XY SEX reversal 3; SRXY3" RELATED [OMIM:612965]
synonym: "46,XY Sex reversal type 3" EXACT [MONDORULE:1, OMIM:612965]
synonym: "46,XY Sex reversal, partial or complete, Nr5A1-related" RELATED [OMIM:612965]
synonym: "disorder of Sex development, 46,XY, Nr5A1-related" RELATED [OMIM:612965]
synonym: "Sex reversal, XY, with or without adrenal failure" RELATED [OMIM:612965]
synonym: "SRXY3" RELATED [MONDO:Lexical, OMIM:612965]
xref: OMIM:612965 {source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MONDOLEX:0013066", source="OMIM:612965", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/612965

[Term]
id: MONDO:0013067
name: cataract 34 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 3" EXACT [DOID:0110230]
synonym: "cataract (disease) caused by mutation in FOXE3" EXACT []
synonym: "cataract 34 multiple types with or without microcornea" EXACT [DOID:0110230]
synonym: "cataract 34, multiple types" RELATED [MONDO:Lexical, OMIM:612968]
synonym: "cataract 34, multiple types, with or without microcornea" RELATED [OMIM:612968]
synonym: "cataract 34, multiple types; CTRCT34" RELATED [OMIM:612968]
synonym: "cataract, autosomal recessive congenital 3" RELATED [OMIM:612968]
synonym: "CATC3" EXACT [DOID:0110230]
synonym: "CTRCT34" EXACT [DOID:0110230, MONDO:Lexical, OMIM:612968]
synonym: "FOXE3 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110230 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110230"}
xref: MESH:C567835 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612968 {source="MONDO:equivalentTo", source="DOID:0110230"}
xref: UMLS:C2751822 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612968"}
is_a: MONDO:0005129 {source="DOID", source="DOID:0110230", source="MESH:C567835", source="MONDO:Redundant", source="OMIM:612968"} ! cataract (disease)
property_value: exactMatch DOID:0110230
property_value: exactMatch http://identifiers.org/mesh/C567835
property_value: exactMatch http://identifiers.org/omim/612968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751822

[Term]
id: MONDO:0013068
name: age-related hearing impairment 2
synonym: "age-related hearing impairment 2" RELATED [MONDO:Lexical, OMIM:612976]
synonym: "age-related hearing impairment 2; ARHI2" RELATED [OMIM:612976]
synonym: "ARHI2" EXACT [MONDO:Lexical, OMIM:612976]
synonym: "presbycusis 2" RELATED [OMIM:612976]
xref: MESH:C567834 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612976 {source="MONDO:equivalentTo"}
xref: UMLS:C2751814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612976"}
is_a: MONDO:0005562 {source="DC-OMIM:612976", source="MONDOLEX:0013068"} ! age-related hearing impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: exactMatch http://identifiers.org/mesh/C567834
property_value: exactMatch http://identifiers.org/omim/612976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751814

[Term]
id: MONDO:0013069
name: autosomal recessive optic atrophy, OPA7 type
subset: ordo_clinical_subtype {source="Orphanet:227976"}
synonym: "OPA7" RELATED [MONDO:Lexical, OMIM:612989]
synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989]
synonym: "optic atrophy 7 with or without auditory neuropathy; OPA7" RELATED [OMIM:612989]
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="Orphanet:227976", source="ORDO:227976/attributed", source="ORDO:227976/ntbt"}
xref: MESH:C567833 {source="MONDO:equivalentTo"}
xref: OMIM:612989 {source="Orphanet:227976", source="ORDO:227976/e", source="MONDO:equivalentTo"}
xref: Orphanet:227976 {source="MONDO:equivalentTo", source="OMIM:612989"}
xref: UMLS:C2751812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612989"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016799 {source="Orphanet:227976"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0018609 {source="Orphanet:227976"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0043878 ! hereditary optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C567833
property_value: exactMatch http://identifiers.org/omim/612989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751812
property_value: exactMatch Orphanet:227976

[Term]
id: MONDO:0013070
name: spermatogenic failure 7
synonym: "Male infertility, nonsyndromic, autosomal recessive" RELATED [OMIM:612997]
synonym: "spermatogenic failure 7" EXACT [MONDO:Lexical, OMIM:612997]
synonym: "spermatogenic failure 7; SPGF7" RELATED [OMIM:612997]
synonym: "spermatogenic failure type 7" EXACT [MONDORULE:1, OMIM:612997]
synonym: "SPGF7" RELATED [MONDO:Lexical, OMIM:612997]
xref: DOID:0070173 {source="MONDO:equivalentTo"}
xref: MESH:C567832 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612997 {source="MONDO:equivalentTo"}
xref: UMLS:C2751811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612997"}
is_a: MONDO:0004983 {source="DC-OMIM:612997", source="OMIM:612997"} ! azoospermia
is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder
property_value: exactMatch DOID:0070173
property_value: exactMatch http://identifiers.org/mesh/C567832
property_value: exactMatch http://identifiers.org/omim/612997
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751811

[Term]
id: MONDO:0013071
name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" EXACT [MONDO:design_pattern]
synonym: "EDMD4" RELATED [MONDO:Lexical, OMIM:612998]
synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [OMIM:612998]
synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612998]
synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4" RELATED [OMIM:612998]
synonym: "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070249 {source="MONDO:equivalentTo"}
xref: MESH:C567831 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:612998 {source="MONDO:equivalentTo"}
xref: UMLS:C2751807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612998"}
is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
property_value: exactMatch DOID:0070249
property_value: exactMatch http://identifiers.org/mesh/C567831
property_value: exactMatch http://identifiers.org/omim/612998
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751807

[Term]
id: MONDO:0013072
name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2" EXACT [MONDO:design_pattern]
synonym: "EDMD5" RELATED [MONDO:Lexical, OMIM:612999]
synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612999]
synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5" RELATED [OMIM:612999]
synonym: "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070250 {source="MONDO:equivalentTo"}
xref: OMIM:612999 {source="MONDO:equivalentTo"}
xref: UMLS:C2751805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612999"}
is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
property_value: exactMatch DOID:0070250
property_value: exactMatch http://identifiers.org/omim/612999
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751805

[Term]
id: MONDO:0013073
name: palmoplantar keratoderma, nonepidermolytic, focal 1
def: "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FNEPPK1" RELATED [MONDO:Lexical, OMIM:613000]
synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:613000]
synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [OMIM:613000]
synonym: "KRT16 nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16" EXACT [MONDO:design_pattern]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1" EXACT [MONDO:Lexical, OMIM:613000]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1; FNEPPK1" RELATED [OMIM:613000]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1, OMIM:613000]
synonym: "Ppkfne" RELATED [OMIM:613000]
xref: OMIM:613000 {source="MONDO:equivalentTo"}
is_a: MONDO:0006588 {source="DC-OMIM:613000", source="MONDO:Redundant"} ! nonepidermolytic palmoplantar keratoderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751804
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931923
property_value: exactMatch http://identifiers.org/omim/613000

[Term]
id: MONDO:0013074
name: encephalocraniocutaneous lipomatosis
def: "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." [NCIT:P378]
subset: gard_rare {source="GARD:0002108"}
subset: ordo_disease {source="Orphanet:2396"}
synonym: "ECCL" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001]
synonym: "encephalocraniocutaneous lipomatosis" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001]
synonym: "encephalocraniocutaneous lipomatosis; ECCL" RELATED [OMIM:613001]
synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701]
synonym: "Haberland syndrome" EXACT [Orphanet:2396]
xref: GARD:0002108 {source="MONDO:equivalentTo"}
xref: ICD10:E88.2 {source="Orphanet:2396", source="ORDO:2396/attributed", source="ORDO:2396/ntbt"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2396/e"}
xref: NCIT:C4701 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:613001 {source="Orphanet:2396", source="MONDO:equivalentTo", source="ORDO:2396/e"}
xref: Orphanet:2396 {source="OMIM:613001", source="MONDO:equivalentTo"}
xref: SCTID:238905009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0406612 {source="OMIM:613001", source="Orphanet:2396", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4701", source="ORDO:2396/e"}
is_a: MONDO:0006574 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis
is_a: MONDO:0015950 {source="MONDO:Redundant", source="Orphanet:2396"} ! inherited skin tumor
is_a: MONDO:0017127 ! inherited soft tissue tumor
is_a: MONDO:0019296 {source="Orphanet:2396"} ! subcutaneous tissue disease
is_a: MONDO:0021440 ! benign neoplasm of skin
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C535736
property_value: exactMatch http://identifiers.org/omim/613001
property_value: exactMatch http://identifiers.org/snomedct/238905009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406612
property_value: exactMatch NCIT:C4701
property_value: exactMatch Orphanet:2396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis xsd:anyURI {source="GARD:0002108"}

[Term]
id: MONDO:0013075
name: herpes simplex encephalitis, susceptibility to, 2
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2" RELATED [OMIM:613002]
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2; IIAE2" RELATED [OMIM:613002]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 2" RELATED [OMIM:613002]
synonym: "herpes simplex encephalitis, susceptibility to, 2" EXACT [OMIM:613002]
synonym: "Herpes simplex encephalitis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613002]
synonym: "IIAE2" RELATED [OMIM:613002]
xref: OMIM:613002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="DC-OMIM:613002", source="MONDO:Redundant", source="OMIM:613002", source="indirect"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0012521 {source="MONDOLEX:0013075", source="ORDO:1930/btnt"} ! herpes simplex encephalitis
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751803
property_value: exactMatch http://identifiers.org/omim/613002

[Term]
id: MONDO:0013076
name: attention deficit-hyperactivity disorder, susceptibility to, 7
subset: predisposition
synonym: "Adhd7" RELATED [OMIM:613003]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 7" EXACT [OMIM:613003]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:613003]
synonym: "susceptibility to attention deficit-hyperactivity disorder 7" RELATED [OMIM:613003]
xref: OMIM:613003 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005302 ! attention deficit disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751802
property_value: exactMatch http://identifiers.org/omim/613003

[Term]
id: MONDO:0013077
name: Santos syndrome
synonym: "fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome" RELATED [OMIM:613005]
synonym: "Santos syndrome" EXACT [OMIM:613005]
xref: MESH:C567819 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751698 {source="NCBI:mim2gene_medline", source="OMIM:613005", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567819
property_value: exactMatch http://identifiers.org/omim/613005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751698

[Term]
id: MONDO:0013078
name: type 1 diabetes mellitus 24
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31." [DOID:0110761, PMID:19430480]
synonym: "diabetes mellitus, insulin-dependent, 24" RELATED [MONDO:Lexical, OMIM:613006]
synonym: "diabetes mellitus, insulin-dependent, 24; IDDM24" RELATED [OMIM:613006]
synonym: "IDDM24" EXACT [DOID:0110761, MONDO:Lexical, OMIM:613006]
synonym: "insulin-dependent diabetes mellitus 24" EXACT [DOID:0110761]
xref: DOID:0110761 {source="MONDO:equivalentTo"}
xref: ICD10:E10 {source="DOID:0110761"}
xref: MESH:C567818 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613006 {source="MONDO:equivalentTo", source="DOID:0110761"}
xref: UMLS:C2751697 {source="OMIM:613006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="DC-OMIM:613006", source="DOID:0110761", source="MESH:C567818", source="MONDOLEX:0013078"} ! type 1 diabetes mellitus
property_value: exactMatch DOID:0110761
property_value: exactMatch http://identifiers.org/mesh/C567818
property_value: exactMatch http://identifiers.org/omim/613006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751697

[Term]
id: MONDO:0013079
name: primary biliary cholangitis 2
synonym: "biliary cirrhosis, primary, 2" RELATED [MONDO:Lexical, OMIM:613007]
synonym: "biliary cirrhosis, primary, 2; PBC2" RELATED [OMIM:613007]
synonym: "PBC2" RELATED [MONDO:Lexical, OMIM:613007]
xref: MESH:C567817 {source="MONDO:equivalentTo"}
xref: OMIM:613007 {source="MONDO:equivalentTo"}
xref: UMLS:C2751696 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613007"}
is_a: MONDO:0005388 {source="DC-OMIM:613007", source="MESH:C567817", source="MONDOLEX:0013079", source="OMIM:613007"} ! primary biliary cholangitis
property_value: exactMatch http://identifiers.org/mesh/C567817
property_value: exactMatch http://identifiers.org/omim/613007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751696

[Term]
id: MONDO:0013080
name: primary biliary cholangitis 3
synonym: "biliary cirrhosis, primary, 3" RELATED [MONDO:Lexical, OMIM:613008]
synonym: "biliary cirrhosis, primary, 3; PBC3" RELATED [OMIM:613008]
synonym: "PBC3" RELATED [MONDO:Lexical, OMIM:613008]
xref: MESH:C567816 {source="MONDO:equivalentTo"}
xref: OMIM:613008 {source="MONDO:equivalentTo"}
xref: UMLS:C2751695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613008"}
is_a: MONDO:0005388 {source="DC-OMIM:613008", source="MESH:C567816", source="MONDOLEX:0013080", source="OMIM:613008"} ! primary biliary cholangitis
property_value: exactMatch http://identifiers.org/mesh/C567816
property_value: exactMatch http://identifiers.org/omim/613008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751695

[Term]
id: MONDO:0013081
name: lymphoproliferative syndrome 1
def: "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." [NCIT:C126344]
subset: ordo_disease
synonym: "ITK deficiency" EXACT [NCIT:C126344]
synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LPFS1" EXACT [DOID:0060707, MONDO:Lexical, OMIM:613011]
synonym: "lymphoproliferative syndrome 1" EXACT [MONDO:Lexical, OMIM:613011]
synonym: "lymphoproliferative syndrome 1; LPFS1" RELATED [OMIM:613011]
synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern]
synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011]
xref: DOID:0060707 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="DOID:0060707"}
xref: MESH:C567815 {source="MONDO:equivalentTo"}
xref: NCIT:C126344 {source="MONDO:equivalentTo"}
xref: OMIM:613011 {source="MONDO:equivalentTo", source="DOID:0060707", source="Orphanet:538963"}
xref: Orphanet:538963 {source="MONDO:equivalentTo"}
xref: UMLS:C3552634 {source="MONDO:equivalentTo", source="OMIM:613011"}
is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751686
property_value: exactMatch DOID:0060707
property_value: exactMatch http://identifiers.org/mesh/C567815
property_value: exactMatch http://identifiers.org/omim/613011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3552634
property_value: exactMatch NCIT:C126344
property_value: exactMatch Orphanet:538963

[Term]
id: MONDO:0013082
name: Hirschsprung disease-ganglioneuroblastoma syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2151"}
subset: predisposition
synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695]
synonym: "NBLST2" RELATED [MONDO:Lexical, OMIM:613013]
synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013]
synonym: "neuroblastoma, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613013]
synonym: "neuroblastoma, susceptibility to, 2; NBLST2" RELATED [OMIM:613013]
synonym: "neuroblastoma, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613013]
synonym: "susceptibility to neuroblastoma 2" RELATED [OMIM:613013]
xref: GARD:0002695 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q43.1 {source="Orphanet:2151", source="ORDO:2151/attributed", source="ORDO:2151/ntbt"}
xref: MESH:C538119 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2151", source="ORDO:2151/e"}
xref: OMIM:613013 {source="MONDO:equivalentTo"}
xref: Orphanet:2151 {source="MONDO:equivalentTo"}
xref: UMLS:C2751683 {source="OMIM:613013", source="MONDO:equivalentTo", source="Orphanet:2151", source="ORDO:2151/e"}
is_a: MONDO:0015246 {source="Orphanet:2151"} ! syndromic anorectal malformation
is_a: MONDO:0021189 {source="Orphanet:2151"} ! intestinal motility disease
relationship: predisposes_towards MONDO:0005072 ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751682
property_value: exactMatch http://identifiers.org/mesh/C538119
property_value: exactMatch http://identifiers.org/omim/613013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751683
property_value: exactMatch Orphanet:2151

[Term]
id: MONDO:0013083
name: neuroblastoma, susceptibility to, 3
def: "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NBLST3" RELATED [MONDO:Lexical, OMIM:613014]
synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern]
synonym: "neuroblastoma, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613014]
synonym: "neuroblastoma, susceptibility to, 3; NBLST3" RELATED [OMIM:613014]
synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014]
synonym: "susceptibility to neuroblastoma 3" RELATED [OMIM:613014]
xref: OMIM:613014 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="DC-OMIM:613014", source="MONDO:Redundant"} ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751681
property_value: exactMatch http://identifiers.org/omim/613014

[Term]
id: MONDO:0013084
name: NBLST4
subset: predisposition
synonym: "NBLST4" EXACT [MONDO:Lexical, OMIM:613015]
synonym: "neuroblastoma, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:613015]
synonym: "neuroblastoma, susceptibility to, 4; NBLST4" RELATED [OMIM:613015]
xref: OMIM:613015 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="DC-OMIM:613015"} ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751680
property_value: exactMatch http://identifiers.org/omim/613015

[Term]
id: MONDO:0013085
name: NBLST5
subset: predisposition
synonym: "NBLST5" EXACT [MONDO:Lexical, OMIM:613016]
synonym: "neuroblastoma, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:613016]
synonym: "neuroblastoma, susceptibility to, 5; NBLST5" RELATED [OMIM:613016]
xref: OMIM:613016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="DC-OMIM:613016"} ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751679
property_value: exactMatch http://identifiers.org/omim/613016

[Term]
id: MONDO:0013086
name: NBLST6
subset: predisposition
synonym: "NBLST6" EXACT [MONDO:Lexical, OMIM:613017]
synonym: "neuroblastoma, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:613017]
synonym: "neuroblastoma, susceptibility to, 6; NBLST6" RELATED [OMIM:613017]
xref: OMIM:613017 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="DC-OMIM:613017"} ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751678
property_value: exactMatch http://identifiers.org/omim/613017

[Term]
id: MONDO:0013087
name: bronchiectasis with or without elevated sweat chloride 2
def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BESC2" RELATED [MONDO:Lexical, OMIM:613021]
synonym: "bronchiectasis caused by mutation in SCNN1A" EXACT [MONDO:design_pattern]
synonym: "bronchiectasis with or without elevated sweat chloride 2" EXACT [MONDO:Lexical, OMIM:613021]
synonym: "bronchiectasis with or without elevated sweat chloride 2; BESC2" RELATED [OMIM:613021]
synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [MONDORULE:1, OMIM:613021]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613021]
synonym: "SCNN1A bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567813 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613021 {source="MONDO:equivalentTo"}
xref: UMLS:C2751666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613021"}
is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis
property_value: exactMatch http://identifiers.org/mesh/C567813
property_value: exactMatch http://identifiers.org/omim/613021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751666

[Term]
id: MONDO:0013088
name: FL1
subset: predisposition
synonym: "FL1" EXACT [MONDO:Lexical, OMIM:613024]
synonym: "follicular lymphoma, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613024]
synonym: "follicular lymphoma, susceptibility to, 1; FL1" RELATED [OMIM:613024]
xref: OMIM:613024 {source="MONDO:equivalentTo"}
is_a: MONDO:0018906 {source="ORDO:545/btnt"} ! follicular lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751665
property_value: exactMatch http://identifiers.org/omim/613024

[Term]
id: MONDO:0013089
name: SCZD13
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13." [DOID:0070089]
synonym: "schizophrenia 13" RELATED [MONDO:Lexical, OMIM:613025]
synonym: "schizophrenia 13; SCZD13" RELATED [OMIM:613025]
synonym: "schizophrenia susceptibility locus, chromosome 15Q13-q14-related" RELATED [OMIM:613025]
synonym: "schizophrenia, Neurophysiologic defect 1N" RELATED [OMIM:613025]
synonym: "SCZD13" EXACT [DOID:0070089, MONDO:Lexical, OMIM:613025]
xref: DOID:0070089 {source="MONDO:equivalentTo"}
xref: OMIM:613025 {source="DOID:0070089", source="MONDO:equivalentTo"}
xref: UMLS:C2751663 {source="OMIM:613025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:613025", source="DOID:0070089"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751664
property_value: exactMatch DOID:0070089
property_value: exactMatch http://identifiers.org/omim/613025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751663

[Term]
id: MONDO:0013090
name: chromosome 19q13.11 deletion syndrome
def: "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." [Orphanet:217346]
subset: gard_rare {source="GARD:0010592"}
subset: ordo_malformation_syndrome {source="Orphanet:217346"}
synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408]
synonym: "chromosome 19q13.11 deletion syndrome" EXACT [OMIM:613026]
synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [OMIM:613026]
synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [OMIM:613026]
synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346]
synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346]
xref: DOID:0060408 {source="MONDO:equivalentTo"}
xref: GARD:0010592 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:217346/attributed", source="ORDO:217346/ntbt", source="Orphanet:217346"}
xref: MESH:C567810 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060408"}
xref: OMIM:613026 {source="MONDO:equivalentTo", source="DOID:0060408", source="Orphanet:217346", source="ORDO:217346/e"}
xref: Orphanet:217346 {source="OMIM:613026", source="MONDO:equivalentTo", source="DOID:0060408"}
xref: SCTID:719599008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2751651 {source="OMIM:613026", source="MEDGEN:kboom-pr98-c98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060408", source="Orphanet:217346", source="ORDO:217346/e"}
xref: UMLS:C4304577 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217346", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:613026", source="DOID:0060408"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:217346"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016917 {source="Orphanet:217346"} ! partial deletion of the long arm of chromosome 19
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060408
property_value: exactMatch http://identifiers.org/mesh/C567810
property_value: exactMatch http://identifiers.org/omim/613026
property_value: exactMatch http://identifiers.org/snomedct/719599008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304577
property_value: exactMatch Orphanet:217346
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome xsd:anyURI {source="GARD:0010592"}

[Term]
id: MONDO:0013091
name: glycogen storage disease IXc
def: "A liver PhK deficiency caused by variants in the PHKG2 gene" [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease caused by mutation in PHKG2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease IXc" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027]
synonym: "glycogen storage disease IXc; GSD9C" RELATED [OMIM:613027]
synonym: "glycogen storage disease type 9C" EXACT EXCLUDE [DOID:0111043]
synonym: "glycogen storage disease type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5, OMIM:613027]
synonym: "glycogenosis type 9C" EXACT EXCLUDE [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD IXc" RELATED [OMIM:613027]
synonym: "GSD type 9C" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD9C" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027]
synonym: "PHKG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKG2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
xref: DOID:0111043 {source="MONDO:equivalentTo"}
xref: MESH:C567809 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613027 {source="MONDO:equivalentTo", source="DOID:0111043", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="ORDO:264580/btnt", source="Orphanet:264580"}
xref: UMLS:C2751643 {source="NCBI:mim2gene_medline", source="OMIM:613027", source="MONDO:equivalentTo"}
is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency
property_value: exactMatch DOID:0111043
property_value: exactMatch http://identifiers.org/mesh/C567809
property_value: exactMatch http://identifiers.org/omim/613027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751643

[Term]
id: MONDO:0013092
name: glioma susceptibility 2
def: "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "glioma susceptibility 2" EXACT [MONDO:Lexical, OMIM:613028]
synonym: "glioma susceptibility 2; GLM2" RELATED [OMIM:613028]
synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1, OMIM:613028]
synonym: "GLM2" RELATED [MONDO:Lexical, OMIM:613028]
synonym: "malignant glioma caused by mutation in PTEN" EXACT [MONDO:design_pattern]
synonym: "PTEN malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613028 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751642
property_value: exactMatch http://identifiers.org/omim/613028

[Term]
id: MONDO:0013093
name: glioma susceptibility 3
def: "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BRCA2 malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glioma susceptibility 3" EXACT [MONDO:Lexical, OMIM:613029]
synonym: "glioma susceptibility 3; GLM3" RELATED [OMIM:613029]
synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1, OMIM:613029]
synonym: "GLM3" RELATED [MONDO:Lexical, OMIM:613029]
synonym: "malignant glioma caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
xref: OMIM:613029 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751641
property_value: exactMatch http://identifiers.org/omim/613029

[Term]
id: MONDO:0013094
name: GLM5
synonym: "glioma susceptibility 5" RELATED [MONDO:Lexical, OMIM:613030]
synonym: "glioma susceptibility 5; GLM5" RELATED [OMIM:613030]
synonym: "GLM5" EXACT [MONDO:Lexical, OMIM:613030]
xref: OMIM:613030 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:613030"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751640
property_value: exactMatch http://identifiers.org/omim/613030

[Term]
id: MONDO:0013095
name: GLM6
synonym: "glioma susceptibility 6" RELATED [MONDO:Lexical, OMIM:613031]
synonym: "glioma susceptibility 6; GLM6" RELATED [OMIM:613031]
synonym: "GLM6" EXACT [MONDO:Lexical, OMIM:613031]
xref: OMIM:613031 {source="MONDO:equivalentTo"}
xref: UMLS:C2751639 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613031"}
is_a: MONDO:0020573 {source="OMIM:613031"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: exactMatch http://identifiers.org/omim/613031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751639

[Term]
id: MONDO:0013096
name: GLM7
synonym: "glioma susceptibility 7" RELATED [MONDO:Lexical, OMIM:613032]
synonym: "glioma susceptibility 7; GLM7" RELATED [OMIM:613032]
synonym: "GLM7" EXACT [MONDO:Lexical, OMIM:613032]
xref: OMIM:613032 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:613032"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751638
property_value: exactMatch http://identifiers.org/omim/613032

[Term]
id: MONDO:0013097
name: GLM8
synonym: "glioma susceptibility 8" RELATED [MONDO:Lexical, OMIM:613033]
synonym: "glioma susceptibility 8; GLM8" RELATED [OMIM:613033]
synonym: "GLM8" EXACT [MONDO:Lexical, OMIM:613033]
xref: OMIM:613033 {source="MONDO:equivalentTo"}
xref: UMLS:C2751637 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613033"}
is_a: MONDO:0020573 {source="OMIM:613033"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: exactMatch http://identifiers.org/omim/613033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751637

[Term]
id: MONDO:0013098
name: noise induced hearing loss
def: "A condition in which a person loses the ability to hear due to exposure to high intensity sound." [NCIT:C34664]
synonym: "hearing loss, noise-induced, susceptibility to" RELATED [MONDO:Lexical, OMIM:613035]
synonym: "hearing loss, noise-induced, susceptibility to; NIHL" RELATED [OMIM:613035]
synonym: "NIHL" RELATED [MONDO:Lexical, OMIM:613035]
synonym: "noise-induced hearing loss" EXACT [NCIT:C34664]
xref: COHD:440422 {source="MONDO:equivalentTo"}
xref: EFO:1001254 {source="MONDO:equivalentTo"}
xref: ICD9:388.12 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D006317 {source="MONDO:equivalentTo"}
xref: NCIT:C34664 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:613035 {source="MONDO:equivalentTo"}
xref: SCTID:73415002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
is_a: MONDO:0005365 {source="EFO:1001254", source="MESH:D006317/inferred", source="NCIT:C34664", source="linkedlifedata"} ! hearing loss disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018781
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751629
property_value: exactMatch http://identifiers.org/mesh/D006317
property_value: exactMatch http://identifiers.org/omim/613035
property_value: exactMatch http://identifiers.org/snomedct/73415002
property_value: exactMatch NCIT:C34664

[Term]
id: MONDO:0013099
name: combined pituitary hormone deficiencies, genetic form
def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." [Orphanet:95494]
subset: gard_rare
subset: ordo_disease {source="Orphanet:95494"}
synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [Orphanet:95494]
synonym: "familial congenital hypopituitarism" EXACT [Orphanet:95494]
synonym: "familial hypopituitarism" RELATED [GARD:0002252]
synonym: "genetic hypopituitarism" EXACT [MONDO:patterns/genetic]
synonym: "multiple pituitary hormone deficiencies, genetic forms" EXACT [Orphanet:95494]
synonym: "pituitary hormone deficiency, combined" EXACT [OMIMPS:613038]
xref: GARD:0002252 {source="MONDO:equivalentTo"}
xref: GARD:0010602 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:95494/attributed", source="ORDO:95494/ntbt", source="Orphanet:95494"}
xref: OMIMPS:613038 {source="MONDO:equivalentTo"}
xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"}
xref: SCTID:718182008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
is_a: MONDO:0005152 ! hypopituitarism
is_a: MONDO:0015789 {source="Orphanet:95494"} ! non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
is_a: MONDO:0015891 {source="Orphanet:95494"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0005152 ! hypopituitarism
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/718182008
property_value: exactMatch Orphanet:95494
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism xsd:anyURI {source="GARD:0002252"}

[Term]
id: MONDO:0013100
name: ATFB8
synonym: "ATFB8" EXACT [MONDO:Lexical, OMIM:613055]
synonym: "atrial fibrillation, familial, 8" RELATED [MONDO:Lexical, OMIM:613055]
synonym: "atrial fibrillation, familial, 8; ATFB8" RELATED [OMIM:613055]
xref: MESH:C567802 {source="MONDO:equivalentTo"}
xref: OMIM:613055 {source="MONDO:equivalentTo"}
xref: UMLS:C2751607 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613055"}
is_a: MONDO:0018054 {source="DC-OMIM:613055", source="MONDOLEX:0013100", source="OMIM:613055"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/mesh/C567802
property_value: exactMatch http://identifiers.org/omim/613055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751607

[Term]
id: MONDO:0013101
name: BCC2
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613058]
synonym: "basal cell carcinoma, susceptibility to, 2; BCC2" RELATED [OMIM:613058]
synonym: "BCC2" EXACT [MONDO:Lexical, OMIM:613058]
xref: OMIM:613058 {source="MONDO:equivalentTo"}
xref: UMLS:C2751606 {source="OMIM:613058", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DC-OMIM:613058", source="MONDOLEX:0013101"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/613058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751606

[Term]
id: MONDO:0013102
name: BCC3
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:613059]
synonym: "basal cell carcinoma, susceptibility to, 3; BCC3" RELATED [OMIM:613059]
synonym: "BCC3" EXACT [MONDO:Lexical, OMIM:613059]
xref: OMIM:613059 {source="MONDO:equivalentTo"}
xref: UMLS:C2751605 {source="OMIM:613059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005341 {source="DC-OMIM:613059", source="MONDOLEX:0013102"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/613059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751605

[Term]
id: MONDO:0013103
name: epilepsy, idiopathic generalized, susceptibility to, 10
def: "Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EIG10" RELATED [MONDO:Lexical, OMIM:613060]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:613060]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 10; EIG10" RELATED [OMIM:613060]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:613060]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [OMIM:613060]
synonym: "GABRD juvenile myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Gefs+, type 5, susceptibility to" RELATED [OMIM:613060]
synonym: "Gefs+5, susceptibility to" RELATED [OMIM:613060]
synonym: "Gefsp5, susceptibility to" RELATED [OMIM:613060]
synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [OMIM:613060]
synonym: "juvenile myoclonic epilepsy caused by mutation in GABRD" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalized epilepsy 10" RELATED [OMIM:613060]
xref: OMIM:613060 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751603
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751604
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150398
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150399
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150401
property_value: exactMatch http://identifiers.org/omim/613060

[Term]
id: MONDO:0013104
name: BCC4
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:613061]
synonym: "basal cell carcinoma, susceptibility to, 4; BCC4" RELATED [OMIM:613061]
synonym: "BCC4" EXACT [MONDO:Lexical, OMIM:613061]
xref: OMIM:613061 {source="MONDO:equivalentTo"}
xref: UMLS:C2751602 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613061"}
is_a: MONDO:0005341 {source="DC-OMIM:613061", source="MONDOLEX:0013104"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/613061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751602

[Term]
id: MONDO:0013105
name: BCC5
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:613062]
synonym: "basal cell carcinoma, susceptibility to, 5; BCC5" RELATED [OMIM:613062]
synonym: "BCC5" EXACT [MONDO:Lexical, OMIM:613062]
xref: OMIM:613062 {source="MONDO:equivalentTo"}
xref: UMLS:C2751601 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613062"}
is_a: MONDO:0005341 {source="DC-OMIM:613062", source="MONDOLEX:0013105"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/613062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751601

[Term]
id: MONDO:0013106
name: BCC6
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:613063]
synonym: "basal cell carcinoma, susceptibility to, 6; BCC6" RELATED [OMIM:613063]
synonym: "BCC6" EXACT [MONDO:Lexical, OMIM:613063]
xref: OMIM:613063 {source="MONDO:equivalentTo"}
xref: UMLS:C2751600 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613063"}
is_a: MONDO:0005341 {source="DC-OMIM:613063", source="MONDOLEX:0013106"} ! skin basal cell carcinoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/613063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751600

[Term]
id: MONDO:0013107
name: atopic dermatitis 7
def: "An atopic dermatitis associated with variation in the region 11q13.5." [DOID:0110103, PMID:19349984]
synonym: "ATOD7" EXACT [DOID:0110103, MONDO:Lexical, OMIM:613064]
synonym: "atopic dermatitis type 7" EXACT [DOID:0110103, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 7" RELATED [MONDO:Lexical, OMIM:613064]
synonym: "dermatitis, ATOPIC, 7; ATOD7" RELATED [OMIM:613064]
xref: DOID:0110103 {source="MONDO:equivalentTo"}
xref: MESH:C567796 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613064 {source="MONDO:equivalentTo", source="DOID:0110103"}
xref: UMLS:C2751599 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613064"}
is_a: MONDO:0004980 {source="DC-OMIM:613064", source="DOID:0110103", source="MONDOLEX:0013107", source="OMIM:613064"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110103
property_value: exactMatch http://identifiers.org/mesh/C567796
property_value: exactMatch http://identifiers.org/omim/613064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751599

[Term]
id: MONDO:0013108
name: leukemia, acute lymphocytic, susceptibility to, 1
subset: predisposition
synonym: "ALL" RELATED [MONDO:Lexical, OMIM:613065]
synonym: "All1" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphoblastic" RELATED [MONDO:Lexical, OMIM:613065]
synonym: "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 1" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphoblastic; ALL" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphocytic, susceptibility to, 1" EXACT [OMIM:613065]
synonym: "leukemia, B-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065]
synonym: "leukemia, T-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065]
xref: OMIM:613065 {source="MONDO:equivalentTo"}
xref: UMLS:C2751595 {source="MONDO:equivalentTo", source="OMIM:613065"}
is_a: MONDO:0004967 {source="DC-OMIM:613065", source="MONDOLEX:0013108"} ! acute lymphoblastic leukemia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023449
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961102
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751594
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751596
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751597
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751598
property_value: exactMatch http://identifiers.org/omim/613065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751595

[Term]
id: MONDO:0013109
name: leukemia, acute lymphocytic, susceptibility to, 2
subset: predisposition
synonym: "ALL2" RELATED [MONDO:Lexical, OMIM:613067]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613067]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 2; ALL2" RELATED [OMIM:613067]
synonym: "leukemia, acute lymphocytic, susceptibility to, 2" EXACT [OMIM:613067]
xref: OMIM:613067 {source="MONDO:equivalentTo"}
xref: UMLS:C2751593 {source="OMIM:613067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="DC-OMIM:613067", source="MONDOLEX:0013109"} ! acute lymphoblastic leukemia (disease)
property_value: exactMatch http://identifiers.org/omim/613067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751593

[Term]
id: MONDO:0013110
name: neurodegenerative syndrome due to cerebral folate transport deficiency
subset: ordo_disease {source="Orphanet:217382"}
synonym: "cerebral folate deficiency syndrome" RELATED [GARD:0010594]
synonym: "cerebral folate receptor alpha deficiency" EXACT []
synonym: "cerebral folate transport deficiency" RELATED [GARD:0010594]
synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [OMIM:613068]
xref: DOID:0050719 {source="MONDO:equivalentTo"}
xref: GARD:0010594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G31.8 {source="ORDO:217382/attributed", source="ORDO:217382/ntbt", source="Orphanet:217382"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C567791 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="ORDO:217382/e"}
xref: Orphanet:217382 {source="OMIM:613068", source="MONDO:equivalentTo"}
xref: SCTID:711403001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.88"}
is_a: MONDO:0005528 {source="DOID:0050719"} ! inborn vitamin metabolic disorder
is_a: MONDO:0017313 {source="Orphanet:217382"} ! disorder of folate metabolism and transport
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:217382"} ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751584
property_value: exactMatch DOID:0050719
property_value: exactMatch http://identifiers.org/mesh/C567791
property_value: exactMatch http://identifiers.org/omim/613068
property_value: exactMatch http://identifiers.org/snomedct/711403001
property_value: exactMatch Orphanet:217382

[Term]
id: MONDO:0013111
name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
def: "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." [Orphanet:217371]
comment: Editor note: add transient course
subset: ordo_disease {source="Orphanet:217371"}
synonym: "acute infantile liver failure" BROAD [GARD:0010593]
synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371]
synonym: "infantile liver failure caused by mutation in TRMU" EXACT [MONDO:design_pattern]
synonym: "LFIT" RELATED [MONDO:Lexical, OMIM:613070]
synonym: "liver failure, infantile, transient" EXACT [MONDO:Lexical, OMIM:613070]
synonym: "liver failure, infantile, transient; LFIT" EXACT [OMIM:613070]
synonym: "transient infantile liver failure" EXACT [GARD:0010593]
synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010593 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:K72.0 {source="ORDO:217371/attributed", source="ORDO:217371/ntbt", source="Orphanet:217371"}
xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="ORDO:217371/e"}
xref: Orphanet:217371 {source="MONDO:equivalentTo", source="OMIM:613070"}
xref: UMLS:C3278664 {source="MONDO:equivalentTo", source="OMIM:613070"}
is_a: MONDO:0000023 {source="DC-OMIM:613070", source="MONDO:Redundant"} ! infantile liver failure
is_a: MONDO:0018157 {source="Orphanet:217371"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751567
property_value: exactMatch http://identifiers.org/omim/613070
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3278664
property_value: exactMatch Orphanet:217371

[Term]
id: MONDO:0013112
name: bronchiectasis with or without elevated sweat chloride 3
def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BESC3" RELATED [MONDO:Lexical, OMIM:613071]
synonym: "bronchiectasis caused by mutation in SCNN1G" EXACT [MONDO:design_pattern]
synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [MONDO:Lexical, OMIM:613071]
synonym: "bronchiectasis with or without elevated sweat chloride 3; BESC3" RELATED [OMIM:613071]
synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [MONDORULE:1, OMIM:613071]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613071]
synonym: "SCNN1G bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567772 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613071 {source="MONDO:equivalentTo"}
xref: UMLS:C2751324 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613071"}
is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis
property_value: exactMatch http://identifiers.org/mesh/C567772
property_value: exactMatch http://identifiers.org/omim/613071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751324

[Term]
id: MONDO:0013113
name: metaphyseal anadysplasia 2
def: "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MANDP2" RELATED [MONDO:Lexical, OMIM:613073]
synonym: "metaphyseal anadysplasia 2" EXACT [MONDO:Lexical, OMIM:613073]
synonym: "metaphyseal anadysplasia 2; MANDP2" RELATED [OMIM:613073]
synonym: "metaphyseal anadysplasia caused by mutation in MMP9" EXACT [MONDO:design_pattern]
synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1, OMIM:613073]
synonym: "MMP9 metaphyseal anadysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567771 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613073 {source="MONDO:equivalentTo"}
xref: UMLS:C2751322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613073"}
is_a: MONDO:0015177 {source="MONDO:Redundant", source="ORDO:1040/btnt"} ! metaphyseal anadysplasia
property_value: exactMatch http://identifiers.org/mesh/C567771
property_value: exactMatch http://identifiers.org/omim/613073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751322

[Term]
id: MONDO:0013114
name: autosomal dominant nonsyndromic deafness 50
def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32." [DOID:0110576, PMID:19363479]
subset: clingen
synonym: "autosomal dominant deafness 50" EXACT [DOID:0110576]
synonym: "autosomal dominant nonsyndromic deafness type 50" EXACT [DOID:0110576, MONDORULE:2]
synonym: "deafness, autosomal dominant 50" RELATED [MONDO:Lexical, OMIM:613074]
synonym: "deafness, autosomal dominant 50; DFNA50" RELATED [OMIM:613074]
synonym: "deafness, autosomal dominant type 50" EXACT [MONDORULE:2, OMIM:613074]
synonym: "DFNA50" EXACT [DOID:0110576, MONDO:Lexical, OMIM:613074]
xref: DOID:0110576 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110576"}
xref: OMIM:613074 {source="MONDO:equivalentTo", source="DOID:0110576"}
is_a: MONDO:0019587 {source="DC-OMIM:613074", source="DOID:0110576", source="MONDO:Redundant", source="OMIM:613074"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1537752
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888123
property_value: exactMatch DOID:0110576
property_value: exactMatch http://identifiers.org/omim/613074

[Term]
id: MONDO:0013115
name: RIN2 syndrome
def: "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported." [Orphanet:217335]
subset: ordo_malformation_syndrome {source="Orphanet:217335"}
synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [OMIM:613075]
synonym: "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" EXACT [Orphanet:217335]
synonym: "MACS syndrome" EXACT [OMIM:613075, Orphanet:217335]
synonym: "RIN2 deficiency" EXACT [Orphanet:217335]
synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075]
synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335]
xref: ICD10:Q82.8 {source="ORDO:217335/attributed", source="ORDO:217335/ntbt", source="Orphanet:217335"}
xref: MESH:C567770 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613075 {source="MONDO:equivalentTo", source="Orphanet:217335", source="ORDO:217335/e"}
xref: Orphanet:217335 {source="MONDO:equivalentTo", source="OMIM:613075"}
xref: SCTID:723367005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:613075", source="Orphanet:217335"}
is_a: MONDO:0016175 {source="MESH:C567770", source="Orphanet:217335"} ! cutis laxa
property_value: exactMatch http://identifiers.org/mesh/C567770
property_value: exactMatch http://identifiers.org/omim/613075
property_value: exactMatch http://identifiers.org/snomedct/723367005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751321
property_value: exactMatch Orphanet:217335

[Term]
id: MONDO:0013116
name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
subset: ordo_disease {source="Orphanet:330054"}
synonym: "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" EXACT [Orphanet:330054]
synonym: "mitochondrial Complex deficiency, combined" RELATED [OMIM:613076]
synonym: "myopathy with cataract and combined respiratory chain deficiency" RELATED [OMIM:613076]
synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELATED [GARD:0010522]
synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076]
xref: GARD:0010522 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G71.3 {source="Orphanet:330054", source="ORDO:330054/attributed", source="ORDO:330054/ntbt"}
xref: MESH:C567769 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613076 {source="Orphanet:330054", source="ORDO:330054/e", source="MONDO:equivalentTo"}
xref: Orphanet:330054 {source="MONDO:equivalentTo", source="OMIM:613076"}
xref: UMLS:C2751320 {source="Orphanet:330054", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:613076"}
is_a: MONDO:0009637 {source="MESH:C567769", source="Orphanet:330054"} ! inborn mitochondrial myopathy
is_a: MONDO:0016578 {source="Orphanet:330054"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0019589 {source="Orphanet:330054"} ! syndromic genetic deafness
is_a: MONDO:0020225 {source="Orphanet:330054"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C567769
property_value: exactMatch http://identifiers.org/omim/613076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751320
property_value: exactMatch Orphanet:330054

[Term]
id: MONDO:0013117
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEOA5" RELATED [MONDO:Lexical, OMIM:613077]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; PEOA5" RELATED [OMIM:613077]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:613077]
synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077]
synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613077 {source="MONDO:equivalentTo"}
xref: UMLS:C2751319 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613077"}
is_a: MONDO:0008003 {source="MONDOLEX:0013117", source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/mesh/C567768
property_value: exactMatch http://identifiers.org/omim/613077
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751319

[Term]
id: MONDO:0013118
name: Nijmegen breakage syndrome-like disorder
def: "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." [Orphanet:240760]
subset: ordo_malformation_syndrome {source="Orphanet:240760"}
synonym: "microcephaly and chromosomal instability without immunodeficiency" EXACT [Orphanet:240760]
synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [OMIM:613078]
synonym: "NBs-like disorder" EXACT [Orphanet:240760]
synonym: "NBs-like disorder" RELATED [OMIM:613078]
synonym: "NBSLD" EXACT [MONDO:Lexical, OMIM:613078, Orphanet:240760]
synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:613078]
synonym: "Nijmegen breakage syndrome-like disorder; NBSLD" RELATED [OMIM:613078]
synonym: "RAD50 deficiency" EXACT [Orphanet:240760]
synonym: "Rad50 deficiency" RELATED [OMIM:613078]
xref: MESH:C567767 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C153178 {source="MONDO:equivalentTo"}
xref: OMIM:613078 {source="Orphanet:240760", source="ORDO:240760/e", source="MONDO:equivalentTo"}
xref: Orphanet:240760 {source="OMIM:613078", source="MONDO:equivalentTo"}
xref: SCTID:766753005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751318 {source="OMIM:613078", source="Orphanet:240760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015707 {source="Orphanet:240760"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
is_a: MONDO:0015945 {source="Orphanet:240760"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:240760"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567767
property_value: exactMatch http://identifiers.org/omim/613078
property_value: exactMatch http://identifiers.org/snomedct/766753005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751318
property_value: exactMatch NCIT:C153178
property_value: exactMatch Orphanet:240760

[Term]
id: MONDO:0013119
name: autosomal recessive nonsyndromic deafness 77
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 77" EXACT [DOID:0110525]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 77" EXACT [DOID:0110525, MONDORULE:2]
synonym: "deafness, autosomal recessive 77" RELATED [MONDO:Lexical, OMIM:613079]
synonym: "deafness, autosomal recessive 77; DFNB77" RELATED [OMIM:613079]
synonym: "deafness, autosomal recessive type 77" EXACT [MONDORULE:2, OMIM:613079]
synonym: "DFNB77" EXACT [DOID:0110525, MONDO:Lexical, OMIM:613079]
synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110525 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110525"}
xref: MESH:C567543 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613079 {source="DOID:0110525", source="MONDO:equivalentTo"}
xref: UMLS:C2746083 {source="OMIM:613079", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:613079", source="DOID:0110525", source="MONDO:Redundant", source="OMIM:613079"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110525
property_value: exactMatch http://identifiers.org/mesh/C567543
property_value: exactMatch http://identifiers.org/omim/613079
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2746083

[Term]
id: MONDO:0013120
name: 46,XY sex reversal 5
synonym: "46,XY gonadal dysgenesis, complete, Cbx2-related" RELATED [OMIM:613080]
synonym: "46,XY sex reversal 5" EXACT [MONDO:Lexical, OMIM:613080]
synonym: "46,XY SEX reversal 5; SRXY5" RELATED [OMIM:613080]
synonym: "46,XY Sex reversal type 5" EXACT [MONDORULE:1, OMIM:613080]
synonym: "46,XY Sex reversal, Cbx2-related" RELATED [OMIM:613080]
synonym: "disorder of Sex development, 46,XY, Cbx2-related" RELATED [OMIM:613080]
synonym: "Sex reversal, XY, Cbx2-related" RELATED [OMIM:613080]
synonym: "SRXY5" RELATED [MONDO:Lexical, OMIM:613080]
xref: MESH:C567766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613080 {source="MONDO:equivalentTo"}
xref: UMLS:C2751317 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613080"}
is_a: MONDO:0010765 {source="MESH:C567766", source="MONDOLEX:0013120", source="OMIM:613080", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
property_value: exactMatch http://identifiers.org/mesh/C567766
property_value: exactMatch http://identifiers.org/omim/613080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751317

[Term]
id: MONDO:0013121
name: GLC3C
synonym: "glaucoma 3, primary congenital, C" RELATED [MONDO:Lexical, OMIM:613085]
synonym: "glaucoma 3, primary congenital, C; GLC3C" RELATED [OMIM:613085]
synonym: "GLC3C" EXACT [MONDO:Lexical, OMIM:613085]
xref: OMIM:613085 {source="MONDO:equivalentTo"}
is_a: MONDO:0000365 ! primary congenital glaucoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1428921
property_value: exactMatch http://identifiers.org/omim/613085

[Term]
id: MONDO:0013122
name: glaucoma 3, primary congenital, d
synonym: "glaucoma 3, primary congenital, d" EXACT [MONDO:Lexical, OMIM:613086]
synonym: "glaucoma 3, primary congenital, D; GLC3D" RELATED [OMIM:613086]
synonym: "glaucoma 3, primary congenital, type D" EXACT [MONDORULE:1, OMIM:613086]
synonym: "GLC3D" RELATED [MONDO:Lexical, OMIM:613086]
xref: MESH:C567765 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613086 {source="MONDO:equivalentTo"}
xref: UMLS:C2751316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613086"}
is_a: MONDO:0000365 ! primary congenital glaucoma (disease)
property_value: exactMatch http://identifiers.org/mesh/C567765
property_value: exactMatch http://identifiers.org/omim/613086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751316

[Term]
id: MONDO:0013123
name: atrial heart septal defect 6
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD6" EXACT [DOID:0110111, MONDO:Lexical, OMIM:613087]
synonym: "atrial heart septal defect caused by mutation in TLL1" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 6" EXACT [DOID:0110111, MONDORULE:1]
synonym: "atrial septal defect 6" EXACT [DOID:0110111, MONDO:Lexical, OMIM:613087]
synonym: "atrial septal defect 6; ASD6" RELATED [OMIM:613087]
synonym: "atrial septal defect type 6" EXACT [MONDORULE:1, OMIM:613087]
synonym: "TLL1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110111 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110111"}
xref: MESH:C567764 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613087 {source="MONDO:equivalentTo", source="DOID:0110111"}
xref: UMLS:C2751315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613087"}
is_a: MONDO:0006664 {source="DC-OMIM:613087", source="DOID:0110111", source="MESH:C567764", source="MONDO:Redundant", source="MONDOLEX:0013123", source="OMIM:613087"} ! atrial heart septal defect
property_value: exactMatch DOID:0110111
property_value: exactMatch http://identifiers.org/mesh/C567764
property_value: exactMatch http://identifiers.org/omim/613087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751315

[Term]
id: MONDO:0013124
name: pelvic organ prolapse, susceptibility to, 2
subset: predisposition
synonym: "pelvic organ prolapse, susceptibility to, 2" EXACT [OMIM:613088]
synonym: "pelvic organ prolapse, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613088]
synonym: "Pvop2" RELATED [OMIM:613088]
xref: OMIM:613088 {source="MONDO:equivalentTo"}
is_a: MONDO:0000082 {source="DC-OMIM:613088"} ! pelvic organ prolapse
is_a: MONDO:0019347 ! peeling skin syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751314
property_value: exactMatch http://identifiers.org/omim/613088

[Term]
id: MONDO:0013125
name: CLAPO syndrome
def: "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." [Orphanet:168984]
subset: ordo_malformation_syndrome {source="Orphanet:168984"}
synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [OMIM:613089]
synonym: "Clapo" RELATED [OMIM:613089]
synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089]
xref: ICD10:Q87.3 {source="Orphanet:168984", source="ORDO:168984/attributed", source="ORDO:168984/ntbt"}
xref: MESH:C567763 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613089 {source="ORDO:168984/e", source="Orphanet:168984", source="MONDO:equivalentTo"}
xref: Orphanet:168984 {source="OMIM:613089", source="MONDO:equivalentTo"}
xref: SCTID:717765001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2751313 {source="OMIM:613089", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016235 {source="Orphanet:168984"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0019716 {source="Orphanet:168984"} ! overgrowth syndrome
property_value: exactMatch http://identifiers.org/mesh/C567763
property_value: exactMatch http://identifiers.org/omim/613089
property_value: exactMatch http://identifiers.org/snomedct/717765001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751313
property_value: exactMatch Orphanet:168984

[Term]
id: MONDO:0013126
name: obsolete Bartter syndrome, type 4B
is_obsolete: true
replaced_by: MONDO:0000909

[Term]
id: MONDO:0013127
name: asphyxiating thoracic dystrophy 3
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." [DOID:0110087, PMID:19442771]
synonym: "asphyxiating thoracic dystrophy 3" EXACT [OMIM:613091]
synonym: "asphyxiating thoracic dystrophy type 3" EXACT [DOID:0110087, MONDORULE:1]
synonym: "ATD3" EXACT [DOID:0110087]
synonym: "polydactyly with neonatal chondrodystrophy, type 1" RELATED [OMIM:613091]
synonym: "polydactyly with neonatal chondrodystrophy, type 3" RELATED [OMIM:613091]
synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [DOID:0110087]
synonym: "polydactyly with neonatal chondrodystrophy, type III" EXACT [DOID:0110087]
synonym: "Saldino-Noonan syndrome" RELATED [DOID:0110087, OMIM:613091]
synonym: "short rib-polydactyly syndrome, type 1" RELATED [OMIM:613091]
synonym: "short rib-polydactyly syndrome, type 2B" RELATED [OMIM:613091]
synonym: "short rib-polydactyly syndrome, type 3" RELATED [OMIM:613091]
synonym: "short rib-polydactyly syndrome, type I" EXACT [DOID:0110087]
synonym: "short rib-polydactyly syndrome, type IIB" EXACT [DOID:0110087]
synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [DOID:0110087]
synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" RELATED [MONDO:Lexical, OMIM:613091]
synonym: "short-rib thoracic dysplasia 3 with or without polydactyly; SRTD3" RELATED [OMIM:613091]
synonym: "SRPS1" EXACT [DOID:0110087]
synonym: "SRPS2B" EXACT [DOID:0110087]
synonym: "SRPS3" EXACT [DOID:0110087]
synonym: "SRTD3" EXACT [DOID:0110087, MONDO:Lexical, OMIM:613091]
synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, OMIM:613091]
xref: DOID:0110087 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110087"}
xref: OMIM:613091 {source="MONDO:equivalentTo", source="DOID:0110087"}
is_a: MONDO:0018770 {source="DOID:0110087", source="OMIM:613091"} ! Jeune syndrome
is_a: MONDO:0019662 {source="ORDO:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type
is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036069
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751311
property_value: exactMatch DOID:0110087
property_value: exactMatch http://identifiers.org/omim/613091

[Term]
id: MONDO:0013128
name: familial juvenile hyperuricemic nephropathy type 2
def: "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." [Orphanet:217330]
subset: ordo_disease {source="Orphanet:217330"}
synonym: "ADTKD-REN" EXACT [Orphanet:217330]
synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [OMIM:613092]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in REN" EXACT [MONDO:design_pattern]
synonym: "familial juvenile hyperuricemic nephropathy type 2" EXACT [Orphanet:217330]
synonym: "FJHN type 2" EXACT [Orphanet:217330]
synonym: "HNFJ2" RELATED [MONDO:Lexical, OMIM:613092]
synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical, OMIM:613092]
synonym: "hyperuricemic nephropathy, familial juvenile, 2; HNFJ2" RELATED [OMIM:613092]
synonym: "hyperuricemic nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1, OMIM:613092]
synonym: "REN familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "REN-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:217330]
synonym: "REN-associated FJHN" EXACT [Orphanet:217330]
synonym: "REN-associated kidney disease" EXACT [Orphanet:217330]
synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:217330]
xref: MESH:C567760 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613092 {source="MONDO:equivalentTo", source="ORDO:217330/e", source="Orphanet:217330"}
xref: Orphanet:217330 {source="MONDO:equivalentTo", source="OMIM:613092"}
xref: SCTID:721840000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0000608 {source="DC-OMIM:613092", source="MONDO:Redundant", source="MONDOLEX:0013128", source="OMIM:613092"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0015962 {source="Orphanet:217330", source="Orphanet:217330/inferred"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:217330", source="Orphanet:217330/inferred"} ! rare renal tubular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751310
property_value: exactMatch http://identifiers.org/mesh/C567760
property_value: exactMatch http://identifiers.org/omim/613092
property_value: exactMatch http://identifiers.org/snomedct/721840000
property_value: exactMatch Orphanet:217330

[Term]
id: MONDO:0013129
name: cone dystrophy 4
def: "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "achromatopsia 5" RELATED [OMIM:613093]
synonym: "COD4" RELATED [MONDO:Lexical, OMIM:613093]
synonym: "cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:613093]
synonym: "cone dystrophy 4; COD4" RELATED [OMIM:613093]
synonym: "cone dystrophy caused by mutation in PDE6C" EXACT [MONDO:design_pattern]
synonym: "cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:613093]
synonym: "PDE6C cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613093 {source="MONDO:equivalentTo"}
is_a: MONDO:0000455 {source="DC-OMIM:613093", source="MONDO:Redundant"} ! cone dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751308
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751309
property_value: exactMatch http://identifiers.org/omim/613093

[Term]
id: MONDO:0013130
name: isolated microphthalmia 4
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF6 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 4" EXACT [DOID:0060836, MONDORULE:1]
synonym: "MCOP4" EXACT [DOID:0060836, MONDO:Lexical, OMIM:613094]
synonym: "microphthalmia, isolated 4" RELATED [MONDO:Lexical, OMIM:613094]
synonym: "microphthalmia, isolated 4; MCOP4" RELATED [OMIM:613094]
synonym: "microphthalmia, isolated type 4" EXACT [MONDORULE:1, OMIM:613094]
xref: DOID:0060836 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060836"}
xref: MESH:C567757 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613094 {source="MONDO:equivalentTo", source="DOID:0060836"}
xref: UMLS:C2751307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613094"}
is_a: MONDO:0000062 {source="DC-OMIM:613094", source="MONDO:Redundant", source="MONDOLEX:0013130", source="OMIM:613094"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060836
property_value: exactMatch http://identifiers.org/mesh/C567757
property_value: exactMatch http://identifiers.org/omim/613094
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751307

[Term]
id: MONDO:0013131
name: polycystic kidney disease 2
def: "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." [NCIT:C123166]
synonym: "APKD2" EXACT [DOID:0110859]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD2" EXACT [MONDO:design_pattern]
synonym: "Autosomal dominant polycystic kidney disease type 2" EXACT [NCIT:C123166]
synonym: "PKD2" EXACT [DOID:0110859, MONDO:Lexical, OMIM:613095]
synonym: "PKD2 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "polycystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:613095]
synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [OMIM:613095]
synonym: "polycystic kidney disease 2 with or without polycystic liver disease; PKD2" RELATED [OMIM:613095]
synonym: "polycystic kidney disease 2; PKD2" RELATED [OMIM:613095]
synonym: "polycystic kidney disease type 2" EXACT [DOID:0110859, MONDORULE:1, OMIM:613095]
synonym: "polycystic kidney disease, adult, type 2" RELATED [OMIM:613095]
synonym: "polycystic kidney disease, adult, type II" EXACT [DOID:0110859]
xref: DOID:0110859 {source="MONDO:equivalentTo"}
xref: NCIT:C123166 {source="MONDO:equivalentTo"}
xref: OMIM:613095 {source="DOID:0110859", source="MONDO:equivalentTo"}
xref: SCTID:253879006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C2751306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613095"}
is_a: MONDO:0004691 {source="DC-OMIM:613095", source="DOID:0110859", source="MONDO:Redundant", source="NCIT:C123166", source="OMIM:613095", source="linkedlifedata"} ! autosomal dominant polycystic kidney disease
property_value: exactMatch DOID:0110859
property_value: exactMatch http://identifiers.org/omim/613095
property_value: exactMatch http://identifiers.org/snomedct/253879006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751306
property_value: exactMatch NCIT:C123166

[Term]
id: MONDO:0013132
name: hereditary spastic paraplegia 36
def: "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." [Orphanet:320365]
subset: ordo_disease {source="Orphanet:320365"}
synonym: "autosomal dominant spastic paraplegia 36" EXACT [DOID:0110787]
synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787]
synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE:2]
synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096]
synonym: "spastic paraplegia 36, autosomal dominant; SPG36" RELATED [OMIM:613096]
synonym: "SPG36" EXACT [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365]
xref: DOID:0110787 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="DOID:0110787", source="MONDO:subClassOf", source="Orphanet:320365", source="ORDO:320365/attributed", source="ORDO:320365/ntbt"}
xref: MESH:C567930 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="ORDO:320365/e", source="MONDO:equivalentTo"}
xref: Orphanet:320365 {source="DOID:0110787", source="MONDO:equivalentTo", source="OMIM:613096"}
xref: SCTID:723819007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936879 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:320365", source="ORDO:320365/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613096"}
xref: UMLS:C4510078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015087 {source="Orphanet:320365"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch DOID:0110787
property_value: exactMatch http://identifiers.org/mesh/C567930
property_value: exactMatch http://identifiers.org/omim/613096
property_value: exactMatch http://identifiers.org/snomedct/723819007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510078
property_value: exactMatch Orphanet:320365

[Term]
id: MONDO:0013133
name: melanoma, cutaneous malignant, susceptibility to, 5
subset: predisposition
synonym: "CMM5" RELATED [MONDO:Lexical, OMIM:613099]
synonym: "melanoma, cutaneous malignant, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613099]
synonym: "melanoma, cutaneous malignant, susceptibility to, 5; CMM5" RELATED [OMIM:613099]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613099]
synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [OMIM:613099]
xref: OMIM:613099 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:613099"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:613099"} ! familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751295
property_value: exactMatch http://identifiers.org/omim/613099

[Term]
id: MONDO:0013134
name: glaucoma 1, open angle, O
def: "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glaucoma 1, open angle, O" EXACT [MONDO:Lexical, OMIM:613100]
synonym: "glaucoma 1, open angle, O; GLC1O" RELATED [OMIM:613100]
synonym: "glaucoma 1, open angle, type O" EXACT [MONDORULE:1, OMIM:613100]
synonym: "GLC1O" RELATED [MONDO:Lexical, OMIM:613100]
synonym: "NTF4 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "open-angle glaucoma caused by mutation in NTF4" EXACT [MONDO:design_pattern]
xref: MESH:C567753 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613100 {source="MONDO:equivalentTo"}
xref: UMLS:C2751294 {source="OMIM:613100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="MONDO:Redundant"} ! open-angle glaucoma
is_a: MONDO:0018174 ! hereditary glaucoma
property_value: exactMatch http://identifiers.org/mesh/C567753
property_value: exactMatch http://identifiers.org/omim/613100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751294

[Term]
id: MONDO:0013135
name: familial hemophagocytic lymphohistiocytosis 5
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [DOID:0110925, MONDORULE:1]
synonym: "FHL5" EXACT [DOID:0110925, MONDO:Lexical, OMIM:613101]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 5" RELATED [MONDO:Lexical, OMIM:613101]
synonym: "hemophagocytic lymphohistiocytosis, familial, 5; FHL5" RELATED [OMIM:613101]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 5" EXACT [MONDORULE:1, OMIM:613101]
synonym: "HLH5" EXACT [DOID:0110925]
synonym: "HPLH5" EXACT [DOID:0110925]
synonym: "STXBP2 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110925 {source="MONDO:equivalentTo"}
xref: MESH:C567752 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613101 {source="DOID:0110925", source="MONDO:equivalentTo"}
xref: UMLS:C2751293 {source="OMIM:613101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0013135", source="OMIM:613101"} ! genetic hemophagocytic lymphohistiocytosis
property_value: exactMatch DOID:0110925
property_value: exactMatch http://identifiers.org/mesh/C567752
property_value: exactMatch http://identifiers.org/omim/613101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751293

[Term]
id: MONDO:0013136
name: hereditary hypotrichosis with recurrent skin vesicles
def: "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." [Orphanet:217407]
subset: ordo_disease {source="Orphanet:217407"}
synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102]
xref: MESH:C567751 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613102 {source="Orphanet:217407", source="ORDO:217407/e", source="MONDO:equivalentTo"}
xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"}
xref: SCTID:724350009 {source="MONDO:equivalentTo"}
xref: UMLS:C2751292 {source="OMIM:613102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:217407"} ! alopecia
property_value: exactMatch http://identifiers.org/mesh/C567751
property_value: exactMatch http://identifiers.org/omim/613102
property_value: exactMatch http://identifiers.org/snomedct/724350009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751292
property_value: exactMatch Orphanet:217407

[Term]
id: MONDO:0013137
name: choroidal dystrophy, central areolar 2
def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CACD2" RELATED [MONDO:Lexical, OMIM:613105]
synonym: "central areolar choroidal dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "choroidal dystrophy, central areolar 2" EXACT [MONDO:Lexical, OMIM:613105]
synonym: "choroidal dystrophy, central areolar 2; CACD2" RELATED [OMIM:613105]
synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1, OMIM:613105]
synonym: "macular dystrophy, progressive" RELATED [OMIM:613105]
synonym: "PRPH2 central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567750 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613105 {source="MONDO:equivalentTo"}
xref: UMLS:C2751290 {source="OMIM:613105", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008982 {source="MONDO:Redundant", source="MONDOLEX:0013137", source="OMIM:613105", source="ORDO:75377/btnt"} ! central areolar choroidal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C567750
property_value: exactMatch http://identifiers.org/omim/613105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751290

[Term]
id: MONDO:0013138
name: BRV2
synonym: "BRV2" EXACT [MONDO:Lexical, OMIM:613106]
synonym: "vertigo, benign recurrent, 2" RELATED [MONDO:Lexical, OMIM:613106]
synonym: "vertigo, benign recurrent, 2; BRV2" RELATED [OMIM:613106]
xref: MESH:C567749 {source="MONDO:equivalentTo"}
xref: OMIM:613106 {source="MONDO:equivalentTo"}
xref: UMLS:C2751289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613106"}
is_a: MONDO:0008656 ! benign paroxysmal positional nystagmus
property_value: exactMatch http://identifiers.org/mesh/C567749
property_value: exactMatch http://identifiers.org/omim/613106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751289

[Term]
id: MONDO:0013139
name: neutropenia, severe congenital, 2, autosomal dominant
def: "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern]
synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107]
synonym: "neutropenia, severe congenital, 2, autosomal dominant; SCN2" RELATED [OMIM:613107]
synonym: "SCN2" RELATED [MONDO:Lexical, OMIM:613107]
xref: MESH:C567748 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613107 {source="MONDO:equivalentTo"}
xref: UMLS:C2751288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613107"}
is_a: MONDO:0008742 {source="MONDO:Redundant", source="ORDO:486/btnt"} ! autosomal dominant severe congenital neutropenia
property_value: exactMatch http://identifiers.org/mesh/C567748
property_value: exactMatch http://identifiers.org/omim/613107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751288

[Term]
id: MONDO:0013140
name: candidiasis, familial, 4
def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CANDF4" RELATED [MONDO:Lexical, OMIM:613108]
synonym: "candidiasis, familial chronic mucocutaneous" RELATED [OMIM:613108]
synonym: "candidiasis, familial, 4" EXACT [MONDO:Lexical, OMIM:613108]
synonym: "candidiasis, familial, 4; CANDF4" RELATED [OMIM:613108]
synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1, OMIM:613108]
synonym: "CLEC7A familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" EXACT [MONDO:design_pattern]
xref: OMIM:613108 {source="MONDO:equivalentTo"}
xref: SCTID:235073000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0341024 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613108"}
is_a: MONDO:0015279 {source="MONDO:Redundant", source="MONDOLEX:0013140", source="OMIM:613108"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/613108
property_value: exactMatch http://identifiers.org/snomedct/235073000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341024

[Term]
id: MONDO:0013141
name: autosomal dominant macrothrombocytopenia TUBB1-related
def: "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1" EXACT [MONDO:design_pattern]
synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-related" RELATED [OMIM:613112]
synonym: "TUBB1 autosomal dominant macrothrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090102 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="DOID:0090102"}
xref: MESH:C567747 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613112 {source="DOID:0090102", source="MONDO:equivalentTo"}
xref: UMLS:C2751259 {source="OMIM:613112", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015372 {source="MONDO:Redundant", source="ORDO:140957/btnt"} ! autosomal dominant macrothrombocytopenia
property_value: exactMatch DOID:0090102
property_value: exactMatch http://identifiers.org/mesh/C567747
property_value: exactMatch http://identifiers.org/omim/613112
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751259

[Term]
id: MONDO:0013142
name: neuropathy, hereditary sensory and autonomic, type 2B
def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [DOID:0070150]
synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [DOID:0070150]
synonym: "HSAN2B" EXACT [DOID:0070150, MONDO:Lexical, OMIM:613115]
synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical, OMIM:613115]
synonym: "neuropathy, hereditary sensory and autonomic, type IIB; HSAN2B" RELATED [OMIM:613115]
synonym: "RETREG1 hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070150 {source="MONDO:equivalentTo"}
xref: OMIM:613115 {source="MONDO:equivalentTo", source="DOID:0070150"}
xref: UMLS:C2751092 {source="NCBI:mim2gene_medline", source="OMIM:613115", source="MONDO:equivalentTo"}
is_a: MONDO:0019941 {source="DOID:0070150", source="MONDO:Redundant", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
property_value: exactMatch DOID:0070150
property_value: exactMatch http://identifiers.org/omim/613115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751092

[Term]
id: MONDO:0013143
name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
subset: ordo_disease {source="Orphanet:217467"}
synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [Orphanet:217467]
synonym: "THPH11" RELATED [MONDO:Lexical, OMIM:613116]
synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116]
synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116]
synonym: "thrombophilia due to histidine-rich glycoprotein deficiency; THPH11" RELATED [OMIM:613116]
xref: ICD10:D68.5 {source="ORDO:217467/attributed", source="ORDO:217467/ntbt", source="Orphanet:217467"}
xref: MESH:C567737 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613116 {source="MONDO:equivalentTo", source="Orphanet:217467", source="ORDO:217467/e"}
xref: Orphanet:217467 {source="OMIM:613116", source="MONDO:equivalentTo"}
is_a: MONDO:0002305 {source="DC-OMIM:613116", source="MESH:C567737", source="OMIM:613116"} ! thrombophilia
is_a: MONDO:0016320 {source="Orphanet:217467"} ! rare hereditary thrombophilia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751090
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751091
property_value: exactMatch http://identifiers.org/mesh/C567737
property_value: exactMatch http://identifiers.org/omim/613116
property_value: exactMatch Orphanet:217467

[Term]
id: MONDO:0013144
name: antithrombin III deficiency
def: "A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism." [NCIT:P378]
subset: ordo_disease {source="Orphanet:82"}
synonym: "antithrombin 3 deficiency" RELATED [OMIM:613118]
synonym: "antithrombin III deficiency" EXACT [MONDO:Lexical, OMIM:613118]
synonym: "antithrombin III deficiency; AT3D" RELATED [OMIM:613118]
synonym: "AT III deficiency" EXACT [DOID:3755]
synonym: "AT3D" RELATED [MONDO:Lexical, OMIM:613118]
synonym: "congenital antithrombin III deficiency" RELATED [GARD:0006148]
synonym: "congenital AT-III deficiency" RELATED [GARD:0006148]
synonym: "hereditary antithrombin deficiency" RELATED [GARD:0006148]
synonym: "hereditary thrombophilia due to congenital antithrombin 3 deficiency" EXACT [Orphanet:82]
synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [DOID:3755]
synonym: "inherited antithrombin deficiency" RELATED [GARD:0006148]
synonym: "thrombophilia due to antithrombin 3 deficiency" RELATED [OMIM:613118]
synonym: "thrombophilia due to antithrombin III deficiency" RELATED [GARD:0006148]
xref: DOID:3755 {source="MONDO:equivalentTo"}
xref: GARD:0006148 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D68.5 {source="ORDO:82/ntbt", source="ORDO:82/inclusion", source="Orphanet:82"}
xref: ICD10:D68.59 {source="DOID:3755"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020152 {source="DOID:3755", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98815 {source="DOID:3755", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:613118 {source="DOID:3755", source="MONDO:equivalentTo", source="ORDO:82/e", source="Orphanet:82"}
xref: Orphanet:82 {source="MONDO:equivalentTo", source="OMIM:613118"}
xref: SCTID:36351005 {source="DOID:3755", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272375 {source="NCIT:C98815", source="NCBI:mim2gene_medline", source="DOID:3755", source="MONDO:equivalentTo", source="OMIM:613118"}
is_a: MONDO:0002305 {source="DC-OMIM:613118", source="MESH:D020152", source="OMIM:613118", source="linkedlifedata"} ! thrombophilia
is_a: MONDO:0016320 {source="Orphanet:82"} ! rare hereditary thrombophilia
property_value: exactMatch DOID:3755
property_value: exactMatch http://identifiers.org/mesh/D020152
property_value: exactMatch http://identifiers.org/omim/613118
property_value: exactMatch http://identifiers.org/snomedct/36351005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272375
property_value: exactMatch NCIT:C98815
property_value: exactMatch Orphanet:82

[Term]
id: MONDO:0013145
name: Brugada syndrome 6
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA6" EXACT [DOID:0110223, MONDO:Lexical, OMIM:613119]
synonym: "Brugada syndrome 6" EXACT [MONDO:Lexical, OMIM:613119]
synonym: "Brugada syndrome 6; BRGDA6" RELATED [OMIM:613119]
synonym: "Brugada syndrome caused by mutation in KCNE3" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 6" EXACT [DOID:0110223, MONDORULE:1, OMIM:613119]
synonym: "KCNE3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110223 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110223"}
xref: MESH:C567735 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613119 {source="MONDO:equivalentTo", source="DOID:0110223"}
xref: UMLS:C2751089 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613119"}
is_a: MONDO:0015263 {source="DC-OMIM:613119", source="DOID:0110223", source="MESH:C567735", source="MONDO:Redundant", source="OMIM:613119"} ! Brugada syndrome
property_value: exactMatch DOID:0110223
property_value: exactMatch http://identifiers.org/mesh/C567735
property_value: exactMatch http://identifiers.org/omim/613119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751089

[Term]
id: MONDO:0013146
name: Brugada syndrome 7
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrial fibrillation, familial, 16" RELATED [OMIM:613120]
synonym: "BRGDA7" EXACT [DOID:0110224, MONDO:Lexical, OMIM:613120]
synonym: "Brugada syndrome 7" EXACT [MONDO:Lexical, OMIM:613120]
synonym: "Brugada syndrome 7; BRGDA7" RELATED [OMIM:613120]
synonym: "Brugada syndrome caused by mutation in SCN3B" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 7" EXACT [DOID:0110224, MONDORULE:1, OMIM:613120]
synonym: "SCN3B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110224 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110224"}
xref: MESH:C567734 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613120 {source="MONDO:equivalentTo", source="DOID:0110224"}
xref: UMLS:C2751088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613120"}
is_a: MONDO:0015263 {source="DC-OMIM:613120", source="DOID:0110224", source="MESH:C567734", source="MONDO:Redundant", source="OMIM:613120"} ! Brugada syndrome
property_value: exactMatch DOID:0110224
property_value: exactMatch http://identifiers.org/mesh/C567734
property_value: exactMatch http://identifiers.org/omim/613120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751088

[Term]
id: MONDO:0013147
name: dilated cardiomyopathy 1CC
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1CC" RELATED [MONDO:Lexical, OMIM:613122]
synonym: "cardiomyopathy, dilated, 1CC; CMD1CC" RELATED [OMIM:613122]
synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9, OMIM:613122]
synonym: "CMD1CC" EXACT [DOID:0110424, MONDO:Lexical, OMIM:613122]
synonym: "dilated cardiomyopathy type 1CC" EXACT [DOID:0110424, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern]
synonym: "NEXN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110424 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="DOID:0110424", source="MONDO:subClassOf"}
xref: MESH:C567733 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613122 {source="DOID:0110424", source="MONDO:equivalentTo"}
xref: UMLS:C2751084 {source="OMIM:613122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110424
property_value: exactMatch http://identifiers.org/mesh/C567733
property_value: exactMatch http://identifiers.org/omim/613122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751084

[Term]
id: MONDO:0013148
name: Brugada syndrome 8
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA8" EXACT [DOID:0110225, MONDO:Lexical, OMIM:613123]
synonym: "Brugada syndrome 8" EXACT [MONDO:Lexical, OMIM:613123]
synonym: "Brugada syndrome 8; BRGDA8" RELATED [OMIM:613123]
synonym: "Brugada syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 8" EXACT [DOID:0110225, MONDORULE:1, OMIM:613123]
synonym: "HCN4 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110225 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110225"}
xref: MESH:C567732 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613123 {source="DOID:0110225", source="MONDO:equivalentTo"}
xref: UMLS:C2751083 {source="OMIM:613123", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015263 {source="DC-OMIM:613123", source="DOID:0110225", source="MESH:C567732", source="MONDO:Redundant", source="OMIM:613123"} ! Brugada syndrome
property_value: exactMatch DOID:0110225
property_value: exactMatch http://identifiers.org/mesh/C567732
property_value: exactMatch http://identifiers.org/omim/613123
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751083

[Term]
id: MONDO:0013149
name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
synonym: "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" EXACT [OMIM:613124]
xref: MESH:C567731 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613124 {source="MONDO:equivalentTo"}
xref: UMLS:C2751073 {source="OMIM:613124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C567731/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567731
property_value: exactMatch http://identifiers.org/omim/613124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751073

[Term]
id: MONDO:0013150
name: infantile dystonia-parkinsonism
def: "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." [Orphanet:238455]
subset: gard_rare {source="GARD:0010484"}
subset: ordo_disease {source="Orphanet:238455"}
synonym: "dopamine transporter deficiency syndrome" RELATED [OMIM:613135]
synonym: "infantile Parkinsonism-dystonia" RELATED [GARD:0010484]
synonym: "IPD" EXACT [Orphanet:238455]
synonym: "Parkinsonism-dystonia infantile" RELATED [GARD:0010484]
synonym: "PARKINSONISM-dystonia, infantile" RELATED [MONDO:Lexical, OMIM:613135]
synonym: "PARKINSONISM-dystonia, infantile; PKDYS" RELATED [OMIM:613135]
synonym: "PKDYS" EXACT [MONDO:Lexical, OMIM:613135, Orphanet:238455]
xref: GARD:0010484 {source="MONDO:equivalentTo"}
xref: MESH:C567730 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129866 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo"}
xref: OMIMPS:613135 {source="MONDO:equivalentTo"}
xref: Orphanet:238455 {source="OMIM:613135", source="MONDO:equivalentTo"}
xref: SCTID:722763000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.17"}
xref: UMLS:C2751067 {source="OMIM:613135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129866", source="Orphanet:238455", source="ORDO:238455/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0013150", source="NCIT:C129866"} ! syndromic disease
is_a: MONDO:0017661 {source="Orphanet:238455"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0018329 {source="Orphanet:238455"} ! persistent combined dystonia
property_value: exactMatch http://identifiers.org/mesh/C567730
property_value: exactMatch http://identifiers.org/omim/613135
property_value: exactMatch http://identifiers.org/snomedct/722763000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751067
property_value: exactMatch NCIT:C129866
property_value: exactMatch Orphanet:238455
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia xsd:anyURI {source="GARD:0010484"}

[Term]
id: MONDO:0013151
name: CACD3
synonym: "CACD3" EXACT [MONDO:Lexical, OMIM:613144]
synonym: "choroidal dystrophy, central areolar, 3" RELATED [MONDO:Lexical, OMIM:613144]
synonym: "choroidal dystrophy, central areolar, 3; CACD3" RELATED [OMIM:613144]
synonym: "choroidal dystrophy, central areolar, with or without drusen" RELATED [OMIM:613144]
xref: MESH:C567729 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613144 {source="MONDO:equivalentTo"}
xref: UMLS:C2751055 {source="OMIM:613144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008982 {source="MONDOLEX:0013151", source="OMIM:613144", source="ORDO:75377/btnt"} ! central areolar choroidal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C567729
property_value: exactMatch http://identifiers.org/omim/613144
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751055

[Term]
id: MONDO:0013152
name: systemic lupus erythematosus, susceptibility to, 14
subset: predisposition
synonym: "SLEB14" EXACT [MONDO:Lexical, OMIM:613145]
synonym: "systemic lupus erythematosus, susceptibility to, 14" EXACT [MONDO:Lexical, OMIM:613145]
synonym: "systemic lupus erythematosus, susceptibility to, 14; SLEB14" EXACT [OMIM:613145]
xref: OMIM:613145 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751054
property_value: exactMatch http://identifiers.org/omim/613145

[Term]
id: MONDO:0013153
name: inflammatory bowel disease 28
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [DOID:0110899]
synonym: "IBD28" EXACT [DOID:0110899, MONDO:Lexical, OMIM:613148]
synonym: "IL10RA inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 28, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613148]
synonym: "inflammatory bowel disease 28, autosomal recessive; IBD28" EXACT [OMIM:613148]
synonym: "inflammatory bowel disease caused by mutation in IL10RA" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 28" EXACT [DOID:0110899, MONDORULE:2]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" EXACT [OMIM:613148]
xref: DOID:0110899 {source="MONDO:equivalentTo"}
xref: MESH:C567728 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613148 {source="DOID:0110899", source="MONDO:equivalentTo"}
xref: UMLS:C2751053 {source="NCBI:mim2gene_medline", source="OMIM:613148", source="MONDO:equivalentTo"}
is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
property_value: exactMatch DOID:0110899
property_value: exactMatch http://identifiers.org/mesh/C567728
property_value: exactMatch http://identifiers.org/omim/613148
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751053

[Term]
id: MONDO:0013154
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." [NCIT:C126742]
synonym: "MDDGA2" EXACT [MONDO:Lexical, OMIM:613150]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2" EXACT [NCIT:C126742]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [MONDO:Lexical, OMIM:613150]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; MDDGA2" EXACT [OMIM:613150]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [OMIM:613150]
xref: NCIT:C126742 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.99"}
xref: OMIM:613150 {source="MONDO:equivalentTo"}
xref: UMLS:C3150411 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126742", source="OMIM:613150"}
is_a: MONDO:0000171 {source="OMIM:613150"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="OMIM:613150", source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/613150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150411
property_value: exactMatch NCIT:C126742

[Term]
id: MONDO:0013155
name: muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3
synonym: "MDDGB3" RELATED [MONDO:Lexical, OMIM:613151]
synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [OMIM:613151]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED [MONDO:Lexical, OMIM:613151]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; MDDGB3" RELATED [OMIM:613151]
xref: OMIM:613151 {source="MONDO:equivalentTo"}
xref: UMLS:C3150412 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613151"}
is_a: MONDO:0000172 {source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0018277 {source="ORDO:370959/btnt"} ! congenital muscular dystrophy with cerebellar involvement
property_value: exactMatch http://identifiers.org/omim/613151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150412

[Term]
id: MONDO:0013156
name: muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B4
synonym: "MDDGB4" RELATED [MONDO:Lexical, OMIM:613152]
synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [OMIM:613152]
synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED [MONDO:Lexical, OMIM:613152]
synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; MDDGB4" RELATED [OMIM:613152]
xref: OMIM:613152 {source="MONDO:equivalentTo"}
xref: UMLS:C2751052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613152"}
is_a: MONDO:0000172 {source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0018279 {source="ORDO:370980/btnt"} ! congenital muscular dystrophy without intellectual disability
property_value: exactMatch http://identifiers.org/omim/613152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751052

[Term]
id: MONDO:0013157
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
synonym: "MDDGA5" RELATED [MONDO:Lexical, OMIM:613153]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical, OMIM:613153]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; MDDGA5" RELATED [OMIM:613153]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [OMIM:613153]
xref: OMIM:613153 {source="MONDO:equivalentTo"}
xref: UMLS:C3150413 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613153"}
is_a: MONDO:0000171 {source="OMIM:613153"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="OMIM:613153", source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/613153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150413

[Term]
id: MONDO:0013158
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
def: "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126743]
synonym: "MDDGA6" RELATED [MONDO:Lexical, OMIM:613154]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6" EXACT [NCIT:C126743]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical, OMIM:613154]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; MDDGA6" RELATED [OMIM:613154]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [OMIM:613154]
xref: NCIT:C126743 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.99"}
xref: OMIM:613154 {source="MONDO:equivalentTo"}
xref: UMLS:C3150414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126743", source="OMIM:613154"}
is_a: MONDO:0000171 {source="OMIM:613154"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="OMIM:613154", source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/613154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150414
property_value: exactMatch NCIT:C126743

[Term]
id: MONDO:0013159
name: muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
synonym: "MDDGB1" RELATED [MONDO:Lexical, OMIM:613155]
synonym: "muscular dystrophy, congenital, Pomt1-related" RELATED [OMIM:613155]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" RELATED [MONDO:Lexical, OMIM:613155]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; MDDGB1" RELATED [OMIM:613155]
xref: OMIM:613155 {source="MONDO:equivalentTo"}
xref: UMLS:C3150415 {source="OMIM:613155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000172 {source="DC-OMIM:613155", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B
property_value: exactMatch http://identifiers.org/omim/613155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150415

[Term]
id: MONDO:0013160
name: muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2
def: "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." [NCIT:C126690]
synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2" EXACT [NCIT:C126690]
synonym: "MDDGB2" RELATED [MONDO:Lexical, OMIM:613156]
synonym: "muscular dystrophy, congenital, Pomt2-related" RELATED [OMIM:613156]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" RELATED [MONDO:Lexical, OMIM:613156]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; MDDGB2" RELATED [OMIM:613156]
xref: NCIT:C126690 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.85"}
xref: OMIM:613156 {source="MONDO:equivalentTo"}
xref: UMLS:C3150416 {source="OMIM:613156", source="NCIT:C126690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000172 {source="DC-OMIM:613156", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B
property_value: exactMatch http://identifiers.org/omim/613156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150416
property_value: exactMatch NCIT:C126690

[Term]
id: MONDO:0013161
name: autosomal recessive limb-girdle muscular dystrophy type 2O
def: "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." [Orphanet:206564]
subset: ordo_disease {source="Orphanet:206564"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1" EXACT [MONDO:design_pattern]
synonym: "LGMD2O" EXACT [DOID:0110292, Orphanet:206564]
synonym: "limb-girdle muscular dystrophy type 2O" RELATED [GARD:0012540]
synonym: "MDDGC3" EXACT [DOID:0110292, MONDO:Lexical, OMIM:613157]
synonym: "muscular dystrophy, limb-girdle, type 2O" RELATED [OMIM:613157]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [DOID:0110292]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATED [MONDO:Lexical, OMIM:613157]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; MDDGC3" RELATED [OMIM:613157]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [DOID:0110292]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [OMIM:613157]
synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110292 {source="MONDO:equivalentTo"}
xref: GARD:0012540 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110292", source="Orphanet:206564", source="ORDO:206564/attributed", source="ORDO:206564/ntbt"}
xref: OMIM:613157 {source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564", source="ORDO:206564/e"}
xref: Orphanet:206564 {source="OMIM:613157", source="MONDO:equivalentTo", source="DOID:0110292"}
xref: UMLS:C3150417 {source="OMIM:613157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000173 {source="DC-OMIM:613157", source="OMIM:613157"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110292", source="MONDO:Redundant", source="MONDOLEX:0013161", source="OMIM:613157", source="Orphanet:206564"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016182 {source="Orphanet:206564"} ! qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
is_a: MONDO:0017745 {source="Orphanet:206564"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018284 {source="Orphanet:206564"} ! congenital disorder of glycosylation with neurological involvement
property_value: exactMatch DOID:0110292
property_value: exactMatch http://identifiers.org/omim/613157
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150417
property_value: exactMatch Orphanet:206564

[Term]
id: MONDO:0013162
name: autosomal recessive limb-girdle muscular dystrophy type 2N
def: "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." [Orphanet:206559]
subset: ordo_disease {source="Orphanet:206559"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2" EXACT [MONDO:design_pattern]
synonym: "LGMD2N" EXACT [DOID:0110298, Orphanet:206559]
synonym: "limb-girdle muscular dystrophy type 2N" RELATED [GARD:0012539]
synonym: "MDDGC2" EXACT [DOID:0110298, MONDO:Lexical, OMIM:613158]
synonym: "muscular dystrophy, limb-girdle, type 2N" RELATED [OMIM:613158]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [DOID:0110298]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATED [MONDO:Lexical, OMIM:613158]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MDDGC2" RELATED [OMIM:613158]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [DOID:0110298]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [OMIM:613158]
synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110298 {source="MONDO:equivalentTo"}
xref: GARD:0012539 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:206559", source="ORDO:206559/attributed", source="ORDO:206559/ntbt", source="DOID:0110298"}
xref: OMIM:613158 {source="Orphanet:206559", source="ORDO:206559/e", source="MONDO:equivalentTo", source="DOID:0110298"}
xref: Orphanet:206559 {source="OMIM:613158", source="MONDO:equivalentTo", source="DOID:0110298"}
xref: UMLS:C3150418 {source="OMIM:613158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000173 {source="DC-OMIM:613158", source="OMIM:613158"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110298", source="MONDO:Redundant", source="MONDOLEX:0013162", source="OMIM:613158", source="Orphanet:206559"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016185 {source="Orphanet:206559"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
is_a: MONDO:0017745 {source="Orphanet:206559"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:206559"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch DOID:0110298
property_value: exactMatch http://identifiers.org/omim/613158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150418
property_value: exactMatch Orphanet:206559

[Term]
id: MONDO:0013163
name: nephronophthisis-like nephropathy 1
def: "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in XPNPEP3" EXACT []
synonym: "nephronophthisis-like nephropathy 1" EXACT [MONDO:Lexical, OMIM:613159]
synonym: "nephronophthisis-like nephropathy 1; NPHPL1" RELATED [OMIM:613159]
synonym: "nephronophthisis-like nephropathy type 1" EXACT [DOID:0111117, MONDORULE:1, OMIM:613159]
synonym: "NPHPL1" EXACT [DOID:0111117, MONDO:Lexical, OMIM:613159]
synonym: "XPNPEP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111117 {source="MONDO:equivalentTo"}
xref: OMIM:613159 {source="DOID:0111117", source="MONDO:equivalentTo"}
xref: UMLS:C3150419 {source="NCBI:mim2gene_medline", source="OMIM:613159", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:613159", source="DOID:0111117", source="MONDO:Redundant", source="OMIM:613159"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111117
property_value: exactMatch http://identifiers.org/omim/613159
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150419

[Term]
id: MONDO:0013164
name: beta-ureidopropionase deficiency
def: "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." [Orphanet:65287]
subset: ordo_disease {source="Orphanet:65287"}
synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287]
synonym: "beta-ureidopropionase deficiency" EXACT [OMIM:613161]
synonym: "BETA-ureidopropionase deficiency; UPB1D" RELATED [OMIM:613161]
synonym: "UPB1D" RELATED [OMIM:613161]
xref: ICD10:E79.8 {source="ORDO:65287/attributed", source="ORDO:65287/ntbt", source="Orphanet:65287"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563210 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613161 {source="MONDO:equivalentTo", source="ORDO:65287/e", source="Orphanet:65287"}
xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"}
xref: SCTID:124511000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C1291512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613161", source="ORDO:65287/e", source="Orphanet:65287"}
is_a: MONDO:0016404 {source="Orphanet:65287"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0019058 {source="Orphanet:65287"} ! neurometabolic disease
is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism
property_value: exactMatch http://identifiers.org/mesh/C563210
property_value: exactMatch http://identifiers.org/omim/613161
property_value: exactMatch http://identifiers.org/snomedct/124511000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291512
property_value: exactMatch Orphanet:65287

[Term]
id: MONDO:0013165
name: hereditary spastic paraplegia 45
def: "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." [Orphanet:320396]
subset: ordo_disease {source="Orphanet:320396"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797]
synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797]
synonym: "autosomal recessive spastic paraplegia type 65" EXACT [DOID:0110797, Orphanet:320396]
synonym: "hereditary spastic paraplegia type 45" EXACT [DOID:0110797, MONDORULE:2]
synonym: "NT5C2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613162]
synonym: "spastic paraplegia 45, autosomal recessive; SPG45" RELATED [OMIM:613162]
synonym: "SPG45" EXACT [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396]
synonym: "SPG65" EXACT [DOID:0110797, Orphanet:320396]
xref: DOID:0110797 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320396", source="DOID:0110797", source="ORDO:320396/attributed", source="ORDO:320396/ntbt"}
xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="ORDO:320396/e", source="MONDO:equivalentTo"}
xref: Orphanet:320396 {source="DOID:0110797", source="MONDO:equivalentTo", source="OMIM:613162"}
xref: SCTID:765753004 {source="MONDO:equivalentTo"}
xref: UMLS:CN203996 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320396"} ! autosomal recessive complex spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2680447
property_value: exactMatch DOID:0110797
property_value: exactMatch http://identifiers.org/omim/613162
property_value: exactMatch http://identifiers.org/snomedct/765753004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203996
property_value: exactMatch Orphanet:320396

[Term]
id: MONDO:0013166
name: GABA aminotransferase deficiency
def: "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." [Orphanet:2066]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2066"}
synonym: "4 alpha aminobutyrate transaminase deficiency" RELATED [GARD:0000194]
synonym: "ABAT" RELATED [GARD:0000194]
synonym: "GABA transaminase deficiency" EXACT [GARD:0000194, Orphanet:2066]
synonym: "GABA-transaminase deficiency" RELATED [OMIM:613163]
synonym: "GABAT" RELATED [GARD:0000194]
synonym: "gamma aminobutyrate transaminase deficiency" RELATED [GARD:0000194]
synonym: "gamma aminobutyric acid transaminase deficiency" RELATED [GARD:0000194]
synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [DOID:0060174]
synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174]
xref: DOID:0060174 {source="MONDO:equivalentTo"}
xref: GARD:0000194 {source="MONDO:equivalentTo"}
xref: HGNC:23 {source="GARD:0000194"}
xref: ICD10:E72.8 {source="Orphanet:2066", source="ORDO:2066/attributed", source="ORDO:2066/ntbt"}
xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2066/e"}
xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source="DOID:0060174", source="ORDO:2066/e"}
xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163"}
xref: SCTID:237941007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342708 {source="Orphanet:2066", source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163", source="ORDO:2066/e"}
is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder
is_a: MONDO:0016404 {source="Orphanet:2066"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0017684 {source="Orphanet:2066", source="linkedlifedata"} ! disorder of beta and omega amino acid metabolism
is_a: MONDO:0019058 {source="Orphanet:2066"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0060174
property_value: exactMatch http://identifiers.org/mesh/C535407
property_value: exactMatch http://identifiers.org/omim/613163
property_value: exactMatch http://identifiers.org/snomedct/237941007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342708
property_value: exactMatch Orphanet:2066

[Term]
id: MONDO:0013167
name: PARK16
synonym: "PARK16" EXACT [MONDO:Lexical, OMIM:613164]
synonym: "Parkinson disease 16" RELATED [MONDO:Lexical, OMIM:613164]
synonym: "Parkinson disease 16; PARK16" RELATED [OMIM:613164]
xref: MESH:C567726 {source="MONDO:equivalentTo"}
xref: OMIM:613164 {source="MONDO:equivalentTo"}
xref: UMLS:C2751012 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613164"}
is_a: MONDO:0005180 {source="DC-OMIM:613164", source="MESH:C567726", source="OMIM:613164"} ! Parkinson disease
property_value: exactMatch http://identifiers.org/mesh/C567726
property_value: exactMatch http://identifiers.org/omim/613164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751012

[Term]
id: MONDO:0013168
name: dilated cardiomyopathy 1DD
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1DD" RELATED [MONDO:Lexical, OMIM:613172]
synonym: "cardiomyopathy, dilated, 1DD; CMD1DD" RELATED [OMIM:613172]
synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9, OMIM:613172]
synonym: "CMD1DD" EXACT [DOID:0110447, MONDO:Lexical, OMIM:613172]
synonym: "dilated cardiomyopathy type 1DD" EXACT [DOID:0110447, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in RBM20" EXACT [MONDO:design_pattern]
synonym: "RBM20 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110447 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110447"}
xref: MESH:C567725 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613172 {source="DOID:0110447", source="MONDO:equivalentTo"}
xref: UMLS:C2750995 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613172"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110447
property_value: exactMatch http://identifiers.org/mesh/C567725
property_value: exactMatch http://identifiers.org/omim/613172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750995

[Term]
id: MONDO:0013169
name: chromosome 5p13 duplication syndrome
def: "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." [Orphanet:329802]
subset: ordo_malformation_syndrome {source="Orphanet:329802"}
synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460]
synonym: "chromosome 5p13 duplication syndrome" EXACT [OMIM:613174]
synonym: "dup(5)(p13)" EXACT [Orphanet:329802]
synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802]
xref: DOID:0060460 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="Orphanet:329802", source="ORDO:329802/attributed", source="ORDO:329802/ntbt", source="DOID:0060460"}
xref: MESH:C567717 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613174 {source="ORDO:329802/e", source="Orphanet:329802", source="MONDO:equivalentTo", source="DOID:0060460"}
xref: Orphanet:329802 {source="MONDO:equivalentTo", source="OMIM:613174", source="DOID:0060460"}
xref: UMLS:C2750805 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:329802", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613174"}
is_a: MONDO:0000508 {source="Orphanet:329802"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DC-OMIM:613174", source="DOID:0060460"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:329802"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016942 {source="Orphanet:329802"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060460
property_value: exactMatch http://identifiers.org/mesh/C567717
property_value: exactMatch http://identifiers.org/omim/613174
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750805
property_value: exactMatch Orphanet:329802

[Term]
id: MONDO:0013170
name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
def: "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" [DOID:0070139]
subset: ordo_malformation_syndrome {source="Orphanet:221145"}
synonym: "ARCL1C" EXACT [DOID:0070139, MONDO:Lexical, OMIM:613177]
synonym: "autosomal recessive cutis laxa type 1C" EXACT [DOID:0070139, Orphanet:221145]
synonym: "autosomal recessive cutis laxa type IC" RELATED [DOID:0070139]
synonym: "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" RELATED [OMIM:613177]
synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177]
synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177]
synonym: "cutis laxa, autosomal recessive, type IC; ARCL1C" RELATED [OMIM:613177]
synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145]
xref: DOID:0070139 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:221145", source="ORDO:221145/attributed", source="ORDO:221145/ntbt"}
xref: MESH:C567716 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613177 {source="Orphanet:221145", source="ORDO:221145/e", source="MONDO:equivalentTo", source="DOID:0070139"}
xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"}
xref: PMID:19836010 {source="DOID:0070139"}
xref: UMLS:C2750804 {source="OMIM:613177", source="Orphanet:221145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0070139", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016175 {source="DC-OMIM:613177", source="DOID:0070139/inferred", source="MESH:C567716", source="MONDO:Redundant", source="OMIM:613177", source="Orphanet:221145"} ! cutis laxa
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0070139
property_value: exactMatch http://identifiers.org/mesh/C567716
property_value: exactMatch http://identifiers.org/omim/613177
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750804
property_value: exactMatch Orphanet:221145

[Term]
id: MONDO:0013171
name: purine nucleoside phosphorylase deficiency
def: "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." [Orphanet:760]
subset: gard_rare {source="GARD:0004606"}
subset: ordo_disease {source="Orphanet:760"}
synonym: "deficiency of inosine phosphorylase" EXACT [DOID:5813]
synonym: "nucleoside phosphorylase deficiency" RELATED [OMIM:613179]
synonym: "PNP deficiency" EXACT [DOID:5813, Orphanet:760]
synonym: "PNPase deficiency" EXACT [Orphanet:760]
synonym: "purine nucleoside phosphorylase deficiency" EXACT [DOID:5813, OMIM:613179]
synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C3963]
xref: DOID:5813 {source="MONDO:equivalentTo"}
xref: GARD:0004606 {source="MONDO:equivalentTo"}
xref: HGNC:7892 {source="GARD:0004606"}
xref: ICD10:D81.5 {source="DOID:5813", source="ORDO:760/specific", source="ORDO:760/e", source="Orphanet:760"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562587 {source="MONDO:equivalentTo", source="DOID:5813", source="MONDO:ontobio"}
xref: NCIT:C3963 {source="MONDO:equivalentTo", source="DOID:5813", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIM:613179 {source="MONDO:equivalentTo", source="DOID:5813", source="ORDO:760/e", source="Orphanet:760"}
xref: Orphanet:760 {source="OMIM:613179", source="MONDO:equivalentTo"}
xref: SCTID:60743005 {source="MONDO:equivalentTo", source="DOID:5813", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268125 {source="OMIM:613179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:5813", source="NCIT:C3963", source="ORDO:760/e", source="Orphanet:760"}
is_a: MONDO:0018814 {source="Orphanet:760"} ! non-severe combined immunodeficiency
is_a: MONDO:0019236 {source="Orphanet:760"} ! inborn disorder of purine metabolism
relationship: excluded_subClassOf MONDO:0015974 {source="NCIT:C3963", source="https://github.com/monarch-initiative/mondo-build/issues/108"} ! severe combined immunodeficiency (disease)
property_value: closeMatch http://identifiers.org/snomedct/124271005
property_value: closeMatch http://identifiers.org/snomedct/191000008
property_value: exactMatch DOID:5813
property_value: exactMatch http://identifiers.org/mesh/C562587
property_value: exactMatch http://identifiers.org/omim/613179
property_value: exactMatch http://identifiers.org/snomedct/60743005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268125
property_value: exactMatch NCIT:C3963
property_value: exactMatch Orphanet:760
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency xsd:anyURI {source="GARD:0004606"}

[Term]
id: MONDO:0013172
name: polymicrogyria with optic nerve hypoplasia
def: "Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." [Orphanet:250972]
subset: ordo_malformation_syndrome {source="Orphanet:250972"}
synonym: "CDCBM8" RELATED [OMIM:613180]
synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [OMIM:613180]
synonym: "cortical dysplasia, complex, with other brain malformations 8; CDCBM8" RELATED [OMIM:613180]
synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180]
xref: MESH:C567715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613180 {source="MONDO:equivalentTo", source="Orphanet:250972", source="ORDO:250972/e"}
xref: Orphanet:250972 {source="MONDO:equivalentTo", source="OMIM:613180"}
xref: UMLS:C2750798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:250972", source="OMIM:613180"}
is_a: MONDO:0000508 {source="Orphanet:250972"} ! syndromic intellectual disability
is_a: MONDO:0000904 {source="OMIM:613180"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0015310 {source="Orphanet:250972"} ! syndromic optic nerve hypoplasia
is_a: MONDO:0017120 {source="Orphanet:250972"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0018609 ! syndromic hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/mesh/C567715
property_value: exactMatch http://identifiers.org/omim/613180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750798
property_value: exactMatch Orphanet:250972

[Term]
id: MONDO:0013173
name: intellectual disability, autosomal recessive 13
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:613192]
synonym: "mental retardation, autosomal recessive 13; MRT13" RELATED [OMIM:613192]
synonym: "mental retardation, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192]
synonym: "MRT13" RELATED [MONDO:Lexical, OMIM:613192]
synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567714 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613192 {source="MONDO:equivalentTo"}
xref: UMLS:C2750791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613192"}
is_a: MONDO:0019502 {source="DC-OMIM:613192", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C567714
property_value: exactMatch http://identifiers.org/omim/613192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750791

[Term]
id: MONDO:0013174
name: primary ciliary dyskinesia 13
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD13" EXACT [DOID:0110618, MONDO:Lexical, OMIM:613193]
synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical, OMIM:613193]
synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [OMIM:613193]
synonym: "ciliary dyskinesia, primary, 13; CILD13" RELATED [OMIM:613193]
synonym: "ciliary dyskinesia, primary, type 13" EXACT [MONDORULE:2, OMIM:613193]
synonym: "DNAAF1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [DOID:0110618]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 13" EXACT [DOID:0110618, MONDORULE:2]
xref: DOID:0110618 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110618"}
xref: MESH:C567713 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613193 {source="MONDO:equivalentTo", source="DOID:0110618"}
xref: UMLS:C2750790 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613193"}
is_a: MONDO:0016575 {source="DC-OMIM:613193", source="DOID:0110618", source="MESH:C567713", source="MONDO:Redundant", source="MONDOLEX:0013174", source="OMIM:613193"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110618
property_value: exactMatch http://identifiers.org/mesh/C567713
property_value: exactMatch http://identifiers.org/omim/613193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750790

[Term]
id: MONDO:0013175
name: retinitis pigmentosa 50
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BEST1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 50" EXACT [MONDO:Lexical, OMIM:613194]
synonym: "retinitis pigmentosa 50; RP50" RELATED [OMIM:613194]
synonym: "retinitis pigmentosa caused by mutation in BEST1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 50" EXACT [DOID:0110396, MONDORULE:2, OMIM:613194]
synonym: "retinitis pigmentosa, concentric" RELATED [OMIM:613194]
synonym: "RP50" EXACT [DOID:0110396, MONDO:Lexical, OMIM:613194]
xref: DOID:0110396 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110396"}
xref: MESH:C567712 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613194 {source="MONDO:equivalentTo", source="DOID:0110396"}
is_a: MONDO:0019200 {source="DC-OMIM:613194", source="DOID:0110396", source="MESH:C567712", source="MONDO:Redundant", source="OMIM:613194"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750788
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750789
property_value: exactMatch DOID:0110396
property_value: exactMatch http://identifiers.org/mesh/C567712
property_value: exactMatch http://identifiers.org/omim/613194

[Term]
id: MONDO:0013176
name: ichthyosis-short stature-brachydactyly-microspherophakia syndrome
subset: ordo_disease {source="Orphanet:363992"}
synonym: "15q26.3 microdeletion syndrome" EXACT [Orphanet:363992]
synonym: "Weill-Marchesani syndrome 4" RELATED [OMIM:613195]
synonym: "Weill-Marchesani syndrome 4; WMS4" RELATED [OMIM:613195]
synonym: "Weill-Marchesani-like syndrome" RELATED [OMIM:613195]
synonym: "WMS4" RELATED [OMIM:613195]
xref: ICD10:Q93.5 {source="Orphanet:363992", source="ORDO:363992/attributed", source="ORDO:363992/ntbt"}
xref: MESH:C567710 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613195 {source="ORDO:363992/e", source="Orphanet:363992", source="MONDO:equivalentTo"}
xref: Orphanet:363992 {source="MONDO:equivalentTo", source="OMIM:613195"}
xref: UMLS:C2750787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613195"}
is_a: MONDO:0015331 {source="Orphanet:363992"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0017274 {source="Orphanet:363992"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0018096 {source="DC-OMIM:613195", source="OMIM:613195"} ! Weill-Marchesani syndrome
property_value: exactMatch http://identifiers.org/mesh/C567710
property_value: exactMatch http://identifiers.org/omim/613195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750787
property_value: exactMatch Orphanet:363992

[Term]
id: MONDO:0013177
name: congenital muscular dystrophy due to integrin alpha-7 deficiency
def: "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." [Orphanet:34520]
subset: ordo_disease {source="Orphanet:34520"}
synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639]
synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [DOID:0110639, Orphanet:34520]
synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [DOID:0110639]
synonym: "ITGA7 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [OMIM:613204]
synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587]
synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204]
xref: DOID:0110639 {source="MONDO:equivalentTo"}
xref: GARD:0012587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:34520/attributed", source="ORDO:34520/ntbt", source="DOID:0110639", source="Orphanet:34520"}
xref: MESH:C567709 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613204 {source="DOID:0110639", source="MONDO:equivalentTo", source="ORDO:34520/e", source="Orphanet:34520"}
xref: Orphanet:34520 {source="OMIM:613204", source="DOID:0110639", source="MONDO:equivalentTo"}
xref: UMLS:C2750786 {source="OMIM:613204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:34520"}
is_a: MONDO:0016150 {source="Orphanet:34520"} ! qualitative or quantitative defects of integrin alpha-7
is_a: MONDO:0019950 {source="DOID:0110639", source="MONDO:Redundant", source="MONDOLEX:0013177", source="Orphanet:34520"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0110639
property_value: exactMatch http://identifiers.org/mesh/C567709
property_value: exactMatch http://identifiers.org/omim/613204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750786
property_value: exactMatch Orphanet:34520

[Term]
id: MONDO:0013178
name: congenital muscular dystrophy due to LMNA mutation
def: "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." [Orphanet:157973]
subset: gard_rare {source="GARD:0012585"}
subset: ordo_disease {source="Orphanet:157973"}
synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640]
synonym: "L-CMD" EXACT [DOID:0110640, Orphanet:157973]
synonym: "LMNA congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LMNA-related congenital muscular dystrophy" EXACT [DOID:0110640, Orphanet:157973]
synonym: "MDCL" RELATED [OMIM:613205]
synonym: "muscular dystrophy Congenital, LMNA-related" EXACT [NCIT:C148369]
synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205]
xref: DOID:0110640 {source="MONDO:equivalentTo"}
xref: GARD:0012585 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:157973", source="ORDO:157973/attributed", source="ORDO:157973/ntbt", source="DOID:0110640"}
xref: MESH:C567708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C148369 {source="MONDO:equivalentTo"}
xref: OMIM:613205 {source="ORDO:157973/e", source="Orphanet:157973", source="MONDO:equivalentTo", source="DOID:0110640"}
xref: Orphanet:157973 {source="MONDO:equivalentTo", source="OMIM:613205", source="DOID:0110640"}
xref: UMLS:C2750785 {source="NCBI:mim2gene_medline", source="Orphanet:157973", source="MONDO:equivalentTo", source="OMIM:613205", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019950 {source="DOID:0110640", source="MONDO:Redundant", source="MONDOLEX:0013178", source="Orphanet:157973"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0110640
property_value: exactMatch http://identifiers.org/mesh/C567708
property_value: exactMatch http://identifiers.org/omim/613205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750785
property_value: exactMatch NCIT:C148369
property_value: exactMatch Orphanet:157973
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation xsd:anyURI {source="GARD:0012585"}

[Term]
id: MONDO:0013179
name: hereditary spastic paraplegia 44
def: "gene (1q41-q42) encoding the gap junction gamma-2 protein." [Orphanet:320401]
subset: ordo_disease {source="Orphanet:320401"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796]
synonym: "autosomal recessive spastic paraplegia type 44" RELATED [Orphanet:320401]
synonym: "GJC2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE:2]
synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206]
synonym: "spastic paraplegia 44, autosomal recessive; SPG44" RELATED [OMIM:613206]
synonym: "SPG44" EXACT [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401]
xref: DOID:0110796 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320401/attributed", source="ORDO:320401/ntbt", source="Orphanet:320401", source="DOID:0110796"}
xref: MESH:C567707 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613206 {source="ORDO:320401/e", source="MONDO:equivalentTo", source="Orphanet:320401", source="DOID:0110796"}
xref: Orphanet:320401 {source="MONDO:equivalentTo", source="OMIM:613206", source="DOID:0110796"}
xref: SCTID:723821002 {source="MONDO:equivalentTo"}
xref: UMLS:C2750784 {source="MEDGEN:kboom-pr98-c99", source="ORDO:320401/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613206", source="Orphanet:320401"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320401"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110796
property_value: exactMatch http://identifiers.org/mesh/C567707
property_value: exactMatch http://identifiers.org/omim/613206
property_value: exactMatch http://identifiers.org/snomedct/723821002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750784
property_value: exactMatch Orphanet:320401

[Term]
id: MONDO:0013180
name: asthma-related traits, susceptibility to, 8
subset: predisposition
synonym: "ASRT8" RELATED [MONDO:Lexical, OMIM:613207]
synonym: "asthma-related traits, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:613207]
synonym: "asthma-RELATED traits, susceptibility to, 8; ASRT8" RELATED [OMIM:613207]
synonym: "Rhinoconjunctivitis, susceptibility to" RELATED [OMIM:613207]
xref: OMIM:613207 {source="MONDO:equivalentTo"}
is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0013180"} ! inherited susceptibility to asthma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750782
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750783
property_value: exactMatch http://identifiers.org/omim/613207

[Term]
id: MONDO:0013181
name: amelogenesis imperfecta hypomaturation type 2A3
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI2A3" EXACT [DOID:0110061, MONDO:Lexical, OMIM:613211]
synonym: "amelogenesis imperfecta caused by mutation in WDR72" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [DOID:0110061]
synonym: "amelogenesis imperfecta type IIA3" EXACT [DOID:0110061]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lexical, OMIM:613211]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA3; AI2A3" RELATED [OMIM:613211]
synonym: "WDR72 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110061 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110061"}
xref: MESH:C567706 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613211 {source="MONDO:equivalentTo", source="DOID:0110061"}
xref: UMLS:C2750771 {source="OMIM:613211", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015048 {source="MONDOLEX:0013181", source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: exactMatch DOID:0110061
property_value: exactMatch http://identifiers.org/mesh/C567706
property_value: exactMatch http://identifiers.org/omim/613211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750771

[Term]
id: MONDO:0013182
name: chromosome 17p13.3 duplication syndrome
def: "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." [Orphanet:217385]
subset: ordo_malformation_syndrome {source="Orphanet:217385"}
synonym: "17p13.3 duplication syndrome" EXACT [DOID:0060432, Orphanet:217385]
synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432]
synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [DOID:0060432]
synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [OMIM:613215]
synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385]
synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385]
xref: DOID:0060432 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:217385/attributed", source="ORDO:217385/ntbt", source="DOID:0060432", source="Orphanet:217385"}
xref: MESH:C567705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613215 {source="DOID:0060432", source="MONDO:equivalentTo", source="ORDO:217385/e", source="Orphanet:217385"}
xref: Orphanet:217385 {source="OMIM:613215", source="DOID:0060432", source="MONDO:equivalentTo"}
xref: SCTID:719582007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2750748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:217385"}
xref: UMLS:C4304641 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217385", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DC-OMIM:613215", source="DOID:0060432"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:217385"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016950 {source="Orphanet:217385"} ! partial duplication of the short arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808300
property_value: exactMatch DOID:0060432
property_value: exactMatch http://identifiers.org/mesh/C567705
property_value: exactMatch http://identifiers.org/omim/613215
property_value: exactMatch http://identifiers.org/snomedct/719582007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750748
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304641
property_value: exactMatch Orphanet:217385

[Term]
id: MONDO:0013183
name: congenital stationary night blindness 1C
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [DOID:0110867]
synonym: "congenital stationary night blindness caused by mutation in TRPM1" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1C" EXACT [DOID:0110867, MONDORULE:4]
synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:613216]
synonym: "CSNB1C" EXACT [DOID:0110867, MONDO:Lexical, OMIM:613216]
synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical, OMIM:613216]
synonym: "night blindness, congenital stationary, type 1C; CSNB1C" RELATED [OMIM:613216]
synonym: "TRPM1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110867 {source="MONDO:equivalentTo"}
xref: MESH:C567704 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613216 {source="DOID:0110867", source="MONDO:equivalentTo"}
xref: UMLS:C2750747 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613216"}
is_a: MONDO:0016293 {source="DC-OMIM:613216", source="DOID:0110867", source="MONDO:Redundant", source="MONDOLEX:0013183", source="OMIM:613216"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110867
property_value: exactMatch http://identifiers.org/mesh/C567704
property_value: exactMatch http://identifiers.org/omim/613216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750747

[Term]
id: MONDO:0013184
name: congenital diarrhea 5 with tufting enteropathy
def: "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." [Orphanet:92050]
subset: ordo_disease {source="Orphanet:92050"}
synonym: "congenital enteropathy" RELATED [GARD:0010630]
synonym: "congenital familial intractable diarrhea with enterocytes assembly abnormalities" RELATED [GARD:0010630]
synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [DOID:0060776]
synonym: "congenital tufting enteropathy" EXACT [DOID:0060776]
synonym: "DIAR5" EXACT [DOID:0060776, MONDO:Lexical, OMIM:613217]
synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217]
synonym: "diarrhea 5, with tufting enteropathy, congenital; DIAR5" RELATED [OMIM:613217]
synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217]
synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IED" EXACT [Orphanet:92050]
synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217]
synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050]
synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern]
synonym: "tufting enteropathy" EXACT [DOID:0060776]
xref: DOID:0060776 {source="MONDO:equivalentTo"}
xref: GARD:0010630 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P78.3 {source="ORDO:92050/attributed", source="ORDO:92050/ntbt", source="DOID:0060776", source="Orphanet:92050"}
xref: MESH:C567703 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613217 {source="DOID:0060776", source="MONDO:equivalentTo", source="ORDO:92050/e", source="Orphanet:92050"}
xref: Orphanet:92050 {source="DOID:0060776", source="MONDO:equivalentTo", source="OMIM:613217"}
xref: SCTID:715669000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2750737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613217"}
xref: UMLS:C4275062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015182 {source="Orphanet:92050"} ! congenital enteropathy involving intestinal mucosa development
is_a: MONDO:0019126 {source="Orphanet:92050"} ! intractable diarrhea of infancy
is_a: MONDO:0045032 ! congenital secretory diarrhea
property_value: exactMatch DOID:0060776
property_value: exactMatch http://identifiers.org/mesh/C567703
property_value: exactMatch http://identifiers.org/omim/613217
property_value: exactMatch http://identifiers.org/snomedct/715669000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750737
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275062
property_value: exactMatch Orphanet:92050

[Term]
id: MONDO:0013185
name: leprosy, susceptibility to, 5
def: "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in TLR1" EXACT [MONDO:design_pattern]
synonym: "leprosy, protection against" RELATED [OMIM:613223]
synonym: "leprosy, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613223]
synonym: "leprosy, susceptibility to, 5; LPRS5" RELATED [OMIM:613223]
synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613223]
synonym: "LPRS5" RELATED [MONDO:Lexical, OMIM:613223]
synonym: "susceptibility to leprosy 5" RELATED [OMIM:613223]
synonym: "TLR1 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613223 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
relationship: predisposes_towards MONDO:0005124 ! leprosy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750733
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750734
property_value: exactMatch http://identifiers.org/omim/613223

[Term]
id: MONDO:0013186
name: Noonan syndrome 6
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010701"}
synonym: "Noonan syndrome 6" EXACT [MONDO:Lexical, OMIM:613224]
synonym: "Noonan syndrome 6; NS6" RELATED [OMIM:613224]
synonym: "Noonan syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 6" EXACT [DOID:0060584, MONDORULE:1, OMIM:613224]
synonym: "NRAS gene related Noonan syndrome" RELATED [GARD:0010701]
synonym: "NRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NS6" EXACT [DOID:0060584, MONDO:Lexical, OMIM:613224]
xref: DOID:0060584 {source="MONDO:equivalentTo"}
xref: GARD:0010701 {source="MONDO:equivalentTo"}
xref: MESH:C548084 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613224 {source="DOID:0060584", source="MONDO:equivalentTo"}
xref: UMLS:C2750732 {source="OMIM:613224", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:613224", source="DOID:0060584", source="MESH:C548084", source="MONDO:Redundant", source="OMIM:613224"} ! Noonan syndrome
property_value: exactMatch DOID:0060584
property_value: exactMatch http://identifiers.org/mesh/C548084
property_value: exactMatch http://identifiers.org/omim/613224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750732
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 xsd:anyURI {source="GARD:0010701"}

[Term]
id: MONDO:0013187
name: factor XIII, A subunit, deficiency of
synonym: "factor XIII, A subunit, deficiency of" EXACT [OMIM:613225]
synonym: "hereditary factor XIII A subunit deficiency" EXACT []
synonym: "hereditary factor XIII alpha subunit deficiency" EXACT []
synonym: "hereditary factor XIII type II deficiency" EXACT []
xref: MESH:C567691 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613225 {source="MONDO:equivalentTo"}
xref: SCTID:439455002 {source="MONDO:equivalentTo"}
xref: UMLS:C2584877 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0018029 {source="MESH:C567691", source="ORDO:331/btnt", source="linkedlifedata"} ! congenital factor XIII deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750514
property_value: exactMatch http://identifiers.org/mesh/C567691
property_value: exactMatch http://identifiers.org/omim/613225
property_value: exactMatch http://identifiers.org/snomedct/439455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584877

[Term]
id: MONDO:0013188
name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CA8 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ3" RELATED [MONDO:Lexical, OMIM:613227]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" RELATED [OMIM:613227]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT [MONDO:Lexical, OMIM:613227]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3" RELATED [OMIM:613227]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT [MONDORULE:1, OMIM:613227]
synonym: "dysequilibrium syndrome caused by mutation in CA8" EXACT [MONDO:design_pattern]
xref: MESH:C567690 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613227 {source="MONDO:equivalentTo"}
xref: UMLS:C2750509 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613227"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:613227", source="ORDO:1766/btnt"} ! dysequilibrium syndrome
property_value: exactMatch http://identifiers.org/mesh/C567690
property_value: exactMatch http://identifiers.org/omim/613227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750509

[Term]
id: MONDO:0013189
name: trichotillomania
def: "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." [NCIT:C94336]
synonym: "trichotillomania" EXACT [MONDO:Lexical, OMIM:613229]
synonym: "trichotillomania; TTM" RELATED [OMIM:613229]
synonym: "TTM" RELATED [MONDO:Lexical, OMIM:613229]
xref: COHD:4062972 {source="MONDO:equivalentTo"}
xref: DOID:0050587 {source="MONDO:equivalentTo"}
xref: GARD:0007803 {source="MONDO:equivalentTo"}
xref: ICD10:F63.3 {source="MONDO:equivalentTo"}
xref: ICD9:312.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014256 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94336 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:613229 {source="DOID:0050587", source="MONDO:equivalentTo"}
xref: SCTID:17155009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0001162 {source="DOID:0050587", source="NCIT:C94336", source="linkedlifedata"} ! impulse control disorder
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040953
property_value: exactMatch DOID:0050587
property_value: exactMatch http://identifiers.org/mesh/D014256
property_value: exactMatch http://identifiers.org/omim/613229
property_value: exactMatch http://identifiers.org/snomedct/17155009
property_value: exactMatch NCIT:C94336

[Term]
id: MONDO:0013190
name: factor XIII, b subunit, deficiency of
synonym: "factor XIII, b subunit, deficiency of" EXACT [OMIM:613235]
xref: MESH:C567688 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613235 {source="MONDO:equivalentTo"}
is_a: MONDO:0018029 {source="MESH:C567688", source="ORDO:331/btnt"} ! congenital factor XIII deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750481
property_value: exactMatch http://identifiers.org/mesh/C567688
property_value: exactMatch http://identifiers.org/omim/613235

[Term]
id: MONDO:0013191
name: focal segmental glomerulosclerosis 5
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 5" EXACT [MONDO:Lexical, OMIM:613237]
synonym: "focal segmental glomerulosclerosis 5; FSGS5" RELATED [OMIM:613237]
synonym: "focal segmental glomerulosclerosis caused by mutation in INF2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 5" EXACT [DOID:0111130, MONDORULE:1, OMIM:613237]
synonym: "FSGS5" EXACT [DOID:0111130, MONDO:Lexical, OMIM:613237]
synonym: "glomerulosclerosis, focal segmental, 5" RELATED [OMIM:613237]
synonym: "INF2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111130 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111130"}
xref: MESH:C567687 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613237 {source="MONDO:equivalentTo", source="DOID:0111130"}
xref: UMLS:C2750475 {source="OMIM:613237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="DC-OMIM:613237", source="DOID:0111130", source="MESH:C567687", source="MONDO:Redundant", source="MONDOLEX:0013191", source="OMIM:613237"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111130
property_value: exactMatch http://identifiers.org/mesh/C567687
property_value: exactMatch http://identifiers.org/omim/613237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750475

[Term]
id: MONDO:0013192
name: spondyloarthropathy, susceptibility to, 3
subset: predisposition
synonym: "SPDA3" RELATED [MONDO:Lexical, OMIM:613238]
synonym: "spondyloarthropathy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613238]
synonym: "spondyloarthropathy, susceptibility to, 3; SPDA3" RELATED [OMIM:613238]
xref: OMIM:613238 {source="MONDO:equivalentTo"}
is_a: MONDO:0024512 {source="MONDOLEX:0013192", source="OMIM:613238"} ! spondyloarthropathy, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750474
property_value: exactMatch http://identifiers.org/omim/613238

[Term]
id: MONDO:0013193
name: thyrotoxic periodic paralysis, susceptibility to, 2
def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "KCNJ18 thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyrotoxic periodic paralysis caused by mutation in KCNJ18" EXACT [MONDO:design_pattern]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613239]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 2; TTPP2" RELATED [OMIM:613239]
synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613239]
synonym: "TTPP2" RELATED [MONDO:Lexical, OMIM:613239]
xref: OMIM:613239 {source="MONDO:equivalentTo"}
is_a: MONDO:0019201 {source="DC-OMIM:613239", source="MONDO:Redundant", source="OMIM:613239"} ! thyrotoxic periodic paralysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750473
property_value: exactMatch http://identifiers.org/omim/613239

[Term]
id: MONDO:0013194
name: Pseudopili annulati
synonym: "Pseudopili annulati" EXACT [OMIM:613241]
xref: OMIM:613241 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150463
property_value: exactMatch http://identifiers.org/omim/613241

[Term]
id: MONDO:0013195
name: hypertrophic cardiomyopathy 13
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 13" EXACT [DOID:0110319]
synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical, OMIM:613243]
synonym: "cardiomyopathy, familial hypertrophic, 13; CMH13" RELATED [OMIM:613243]
synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2, OMIM:613243]
synonym: "CMH13" EXACT [DOID:0110319, MONDO:Lexical, OMIM:613243]
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 13" EXACT [DOID:0110319, MONDORULE:2]
synonym: "TNNC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110319 {source="MONDO:equivalentTo"}
xref: MESH:C567686 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613243 {source="MONDO:equivalentTo", source="DOID:0110319"}
xref: UMLS:C2750472 {source="OMIM:613243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C567686", source="MONDOLEX:0013195", source="OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110319
property_value: exactMatch http://identifiers.org/mesh/C567686
property_value: exactMatch http://identifiers.org/omim/613243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750472

[Term]
id: MONDO:0013196
name: colorectal cancer, hereditary nonpolyposis, type 8
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT [MONDO:Lexical, OMIM:613244]
synonym: "colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8" RELATED [OMIM:613244]
synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern]
synonym: "HNPCC8" RELATED [MONDO:Lexical, OMIM:613244]
xref: DOID:0070270 {source="MONDO:equivalentTo"}
xref: MESH:C567685 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613244 {source="MONDO:equivalentTo"}
xref: UMLS:C2750471 {source="OMIM:613244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005835 {source="DC-OMIM:613244"} ! Lynch syndrome
property_value: exactMatch DOID:0070270
property_value: exactMatch http://identifiers.org/mesh/C567685
property_value: exactMatch http://identifiers.org/omim/613244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750471

[Term]
id: MONDO:0013197
name: hypertrophic cardiomyopathy 14
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 14" EXACT [DOID:0110320]
synonym: "cardiomyopathy, familial hypertrophic, 14" RELATED [MONDO:Lexical, OMIM:613251]
synonym: "cardiomyopathy, familial hypertrophic, 14; CMH14" RELATED [OMIM:613251]
synonym: "cardiomyopathy, familial hypertrophic, type 14" EXACT [MONDORULE:2, OMIM:613251]
synonym: "CMH14" EXACT [DOID:0110320, MONDO:Lexical, OMIM:613251]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 14" EXACT [DOID:0110320, MONDORULE:2]
synonym: "MYH6 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110320 {source="MONDO:equivalentTo"}
xref: MESH:C567684 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613251 {source="MONDO:equivalentTo", source="DOID:0110320"}
xref: UMLS:C2750467 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613251"}
is_a: MONDO:0024573 {source="MESH:C567684", source="MONDOLEX:0013197", source="OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110320
property_value: exactMatch http://identifiers.org/mesh/C567684
property_value: exactMatch http://identifiers.org/omim/613251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750467

[Term]
id: MONDO:0013198
name: dilated cardiomyopathy 1EE
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1EE" RELATED [MONDO:Lexical, OMIM:613252]
synonym: "cardiomyopathy, dilated, 1EE; CMD1EE" RELATED [OMIM:613252]
synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9, OMIM:613252]
synonym: "CMD1EE" EXACT [DOID:0110453, MONDO:Lexical, OMIM:613252]
synonym: "dilated cardiomyopathy type 1EE" EXACT [DOID:0110453, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "MYH6 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110453 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110453"}
xref: MESH:C567683 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613252 {source="MONDO:equivalentTo", source="DOID:0110453"}
xref: UMLS:C2750466 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613252"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110453
property_value: exactMatch http://identifiers.org/mesh/C567683
property_value: exactMatch http://identifiers.org/omim/613252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750466

[Term]
id: MONDO:0013199
name: tuberous sclerosis 2
def: "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." [NCIT:C75331]
subset: gard_rare
synonym: "TSC2" RELATED [MONDO:Lexical, OMIM:613254]
synonym: "TSC2 Angiomyolipomas, renal, modifier of" RELATED [OMIM:613254]
synonym: "tuberous sclerosis 2" EXACT [MONDO:Lexical, OMIM:613254]
synonym: "tuberous sclerosis 2; TSC2" RELATED [OMIM:613254]
synonym: "tuberous sclerosis type 2" EXACT [MONDORULE:1, OMIM:613254]
synonym: "tuberous sclerosis, type 2" RELATED [GARD:0005381]
xref: DOID:0080325 {source="MONDO:equivalentTo"}
xref: GARD:0005381 {source="MONDO:equivalentTo"}
xref: NCIT:C75331 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.78/0.79"}
xref: OMIM:613254 {source="MONDO:equivalentTo"}
is_a: MONDO:0001734 {source="DC-OMIM:613254", source="MONDOLEX:0013199", source="NCIT:C75331", source="OMIM:613254"} ! tuberous sclerosis
is_a: MONDO:0019341 {source="ORDO:805/btnt"} ! tuberous sclerosis complex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860707
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750460
property_value: exactMatch DOID:0080325
property_value: exactMatch http://identifiers.org/omim/613254
property_value: exactMatch NCIT:C75331

[Term]
id: MONDO:0013200
name: hypertrophic cardiomyopathy 15
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 15" EXACT [DOID:0110321]
synonym: "cardiomyopathy, familial hypertrophic, 15" RELATED [MONDO:Lexical, OMIM:613255]
synonym: "cardiomyopathy, familial hypertrophic, 15; CMH15" RELATED [OMIM:613255]
synonym: "cardiomyopathy, familial hypertrophic, type 15" EXACT [MONDORULE:2, OMIM:613255]
synonym: "CMH15" EXACT [DOID:0110321, MONDO:Lexical, OMIM:613255]
synonym: "hypertrophic cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 15" EXACT [DOID:0110321, MONDORULE:2]
synonym: "VCL hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110321 {source="MONDO:equivalentTo"}
xref: MESH:C567681 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613255 {source="MONDO:equivalentTo", source="DOID:0110321"}
xref: UMLS:C2750459 {source="OMIM:613255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C567681", source="MONDOLEX:0013200", source="OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110321
property_value: exactMatch http://identifiers.org/mesh/C567681
property_value: exactMatch http://identifiers.org/omim/613255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750459

[Term]
id: MONDO:0013201
name: Waardenburg syndrome type 4B
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
synonym: "EDN3 Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome caused by mutation in EDN3" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type IVB" EXACT [DOID:0110954]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [DOID:0110954]
synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical, OMIM:613265]
synonym: "Waardenburg syndrome, type 4B, with Hirschsprung disease" RELATED [OMIM:613265]
synonym: "Waardenburg syndrome, type 4B; WS4B" RELATED [OMIM:613265]
synonym: "WS4B" EXACT [DOID:0110954, MONDO:Lexical, OMIM:613265]
xref: DOID:0110954 {source="MONDO:equivalentTo"}
xref: MESH:C567680 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613265 {source="DOID:0110954", source="MONDO:equivalentTo"}
xref: UMLS:C2750457 {source="OMIM:613265", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
property_value: exactMatch DOID:0110954
property_value: exactMatch http://identifiers.org/mesh/C567680
property_value: exactMatch http://identifiers.org/omim/613265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750457

[Term]
id: MONDO:0013202
name: Waardenburg syndrome type 4C
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
synonym: "Waardenburg syndrome type IVC" EXACT [DOID:0110955]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" EXACT [DOID:0110955]
synonym: "Waardenburg syndrome with Hirschsprung disease, type 4C" RELATED [OMIM:613266]
synonym: "Waardenburg syndrome, type 4C" RELATED [MONDO:Lexical, OMIM:613266]
synonym: "Waardenburg syndrome, type 4C; WS4C" RELATED [OMIM:613266]
synonym: "WS4C" EXACT [DOID:0110955, MONDO:Lexical, OMIM:613266]
xref: DOID:0110955 {source="MONDO:equivalentTo"}
xref: MESH:C567679 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613266 {source="DOID:0110955", source="MONDO:equivalentTo"}
xref: UMLS:C2750452 {source="OMIM:613266", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
property_value: exactMatch DOID:0110955
property_value: exactMatch http://identifiers.org/mesh/C567679
property_value: exactMatch http://identifiers.org/omim/613266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750452

[Term]
id: MONDO:0013203
name: corneal dystrophy, Fuchs endothelial, 3
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 3" EXACT [MONDO:Lexical, OMIM:613267]
synonym: "corneal dystrophy, Fuchs endothelial, 3; FECD3" RELATED [OMIM:613267]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613267]
synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1, OMIM:613267]
synonym: "Fcd2 locus" RELATED [OMIM:613267]
synonym: "FECD3" RELATED [MONDO:Lexical, OMIM:613267]
synonym: "Fuchs' endothelial dystrophy caused by mutation in TCF4" EXACT [MONDO:design_pattern]
synonym: "TCF4 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613267 {source="MONDO:equivalentTo"}
xref: UMLS:C2750451 {source="OMIM:613267", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005321 {source="DC-OMIM:613267", source="MONDO:Redundant", source="MONDOLEX:0013203", source="OMIM:613267"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/613267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750451

[Term]
id: MONDO:0013204
name: corneal dystrophy, Fuchs endothelial, 4
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 4" EXACT [MONDO:Lexical, OMIM:613268]
synonym: "corneal dystrophy, Fuchs endothelial, 4; FECD4" RELATED [OMIM:613268]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613268]
synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1, OMIM:613268]
synonym: "FECD4" RELATED [MONDO:Lexical, OMIM:613268]
synonym: "Fuchs' endothelial dystrophy caused by mutation in SLC4A11" EXACT [MONDO:design_pattern]
synonym: "SLC4A11 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613268 {source="MONDO:equivalentTo"}
xref: UMLS:C2750450 {source="OMIM:613268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005321 {source="DC-OMIM:613268", source="MONDO:Redundant", source="MONDOLEX:0013204", source="OMIM:613268"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/613268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750450

[Term]
id: MONDO:0013205
name: FECD5
synonym: "corneal dystrophy, Fuchs endothelial, 5" RELATED [MONDO:Lexical, OMIM:613269]
synonym: "corneal dystrophy, Fuchs endothelial, 5; FECD5" RELATED [OMIM:613269]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613269]
synonym: "Fcd3 locus" RELATED [OMIM:613269]
synonym: "FECD5" EXACT [MONDO:Lexical, OMIM:613269]
xref: OMIM:613269 {source="MONDO:equivalentTo"}
xref: UMLS:C2750449 {source="NCBI:mim2gene_medline", source="OMIM:613269", source="MONDO:equivalentTo"}
is_a: MONDO:0005321 {source="DC-OMIM:613269", source="MONDOLEX:0013205", source="OMIM:613269"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/613269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750449

[Term]
id: MONDO:0013206
name: corneal dystrophy, Fuchs endothelial, 6
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 6" EXACT [MONDO:Lexical, OMIM:613270]
synonym: "corneal dystrophy, Fuchs endothelial, 6; FECD6" RELATED [OMIM:613270]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613270]
synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1, OMIM:613270]
synonym: "FECD6" RELATED [MONDO:Lexical, OMIM:613270]
synonym: "Fuchs' endothelial dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern]
synonym: "ZEB1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613270 {source="MONDO:equivalentTo"}
xref: UMLS:C2750448 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613270"}
is_a: MONDO:0005321 {source="DC-OMIM:613270", source="MONDO:Redundant", source="MONDOLEX:0013206", source="OMIM:613270"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/613270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750448

[Term]
id: MONDO:0013207
name: FECD7
synonym: "corneal dystrophy, Fuchs endothelial, 7" RELATED [MONDO:Lexical, OMIM:613271]
synonym: "corneal dystrophy, Fuchs endothelial, 7; FECD7" RELATED [OMIM:613271]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613271]
synonym: "Fcd4 locus" RELATED [OMIM:613271]
synonym: "FECD7" EXACT [MONDO:Lexical, OMIM:613271]
xref: OMIM:613271 {source="MONDO:equivalentTo"}
xref: UMLS:C2750447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613271"}
is_a: MONDO:0005321 {source="DC-OMIM:613271", source="MONDOLEX:0013207", source="OMIM:613271"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/613271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750447

[Term]
id: MONDO:0013208
name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
subset: ordo_disease {source="Orphanet:309854"}
synonym: "HMDPC" RELATED [MONDO:Lexical, OMIM:613280]
synonym: "HMNDYT1" RELATED [OMIM:613280]
synonym: "hypermanganesemia with dystonia 1" RELATED [OMIM:613280]
synonym: "hypermanganesemia with dystonia 1; HMNDYT1" RELATED [OMIM:613280]
synonym: "hypermanganesemia with dystonia polycythemia and cirrhosis" RELATED [GARD:0010706]
synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical, OMIM:613280]
synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis; HMDPC" RELATED [OMIM:613280]
xref: GARD:0010706 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C548016 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613280 {source="MONDO:equivalentTo", source="Orphanet:309854", source="ORDO:309854/e"}
xref: Orphanet:309854 {source="MONDO:equivalentTo", source="OMIM:613280"}
xref: SCTID:702377007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:CN035550 {source="MONDO:equivalentTo"}
is_a: MONDO:0000214 {source="DC-OMIM:613280", source="OMIM:613280"} ! hypermanganesemia with dystonia
is_a: MONDO:0017661 {source="Orphanet:309854"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
is_a: MONDO:0017766 {source="Orphanet:309854"} ! disorder of manganese transport
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C548016
property_value: exactMatch http://identifiers.org/omim/613280
property_value: exactMatch http://identifiers.org/snomedct/702377007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035550
property_value: exactMatch Orphanet:309854

[Term]
id: MONDO:0013209
name: non-alcoholic fatty liver disease
def: "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." [NCIT:C84444]
subset: predisposition
synonym: "fatty liver disease, nonalcoholic" EXACT [MONDO:0000031]
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613282]
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1" RELATED [OMIM:613282]
synonym: "liver disease, alcoholic, susceptibility to, 1" RELATED [OMIM:613282]
synonym: "NAFLD - nonalcoholic fatty liver disease" RELATED [NCIT:C84444]
synonym: "NAFLD1" RELATED [MONDO:Lexical, OMIM:613282]
synonym: "non-alcoholic fatty liver" EXACT [MONDO:0007026]
synonym: "non-alcoholic fatty liver disease" EXACT [DOID:0080208]
synonym: "nonalcoholic fatty liver disease" RELATED [NCIT:C84444]
xref: DC:0000158 {source="MONDO:equivalentTo"}
xref: DOID:0080208 {source="MONDO:equivalentTo"}
xref: EFO:0003095 {source="MONDO:equivalentTo"}
xref: EFO:1001248 {source="MONDO:equivalentTo"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10029530 {source="EFO:1001248"}
xref: MESH:D065626 {source="MONDO:equivalentTo", source="EFO:0003095"}
xref: NCIT:C84444 {source="MONDO:equivalentTo", source="EFO:0003095"}
xref: SCTID:197315008 {source="MONDO:equivalentTo", source="EFO:1001248", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004790 {source="DC:0000158", source="DOID:0080208", source="MESH:D065626", source="MONDOLEX:0013209", source="linkedlifedata"} ! fatty liver disease
property_value: closeMatch http://identifiers.org/meddra/10029530
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0400966
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750440
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750441
property_value: closeMatch Orphanet:33271
property_value: exactMatch DOID:0080208
property_value: exactMatch http://identifiers.org/mesh/D065626
property_value: exactMatch http://identifiers.org/snomedct/197315008
property_value: exactMatch NCIT:C84444

[Term]
id: MONDO:0013210
name: autosomal recessive nonsyndromic deafness 25
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 25" EXACT [DOID:0110483]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 25" EXACT [DOID:0110483, MONDORULE:2]
synonym: "deafness, autosomal recessive 25" RELATED [MONDO:Lexical, OMIM:613285]
synonym: "deafness, autosomal recessive 25; DFNB25" RELATED [OMIM:613285]
synonym: "deafness, autosomal recessive type 25" EXACT [MONDORULE:2, OMIM:613285]
synonym: "DFNB25" EXACT [DOID:0110483, MONDO:Lexical, OMIM:613285]
synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110483 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110483"}
xref: OMIM:613285 {source="MONDO:equivalentTo", source="DOID:0110483"}
xref: UMLS:C1414017 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613285"}
is_a: MONDO:0019588 {source="DC-OMIM:613285", source="DOID:0110483", source="MONDO:Redundant", source="OMIM:613285"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110483
property_value: exactMatch http://identifiers.org/omim/613285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1414017

[Term]
id: MONDO:0013211
name: dilated cardiomyopathy 1FF
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42." [DOID:0110459, PMID:19590045]
synonym: "cardiomyopathy, dilated, 1FF" RELATED [MONDO:Lexical, OMIM:613286]
synonym: "cardiomyopathy, dilated, 1FF; CMD1FF" RELATED [OMIM:613286]
synonym: "cardiomyopathy, dilated, type 1Ff" EXACT [MONDORULE:9, OMIM:613286]
synonym: "CMD1FF" EXACT [DOID:0110459, MONDO:Lexical, OMIM:613286]
synonym: "dilated cardiomyopathy type 1FF" EXACT [DOID:0110459, MONDORULE:9]
xref: DOID:0110459 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110459"}
xref: MESH:C567654 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613286 {source="DOID:0110459", source="MONDO:equivalentTo"}
xref: UMLS:C2750091 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613286"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110459
property_value: exactMatch http://identifiers.org/mesh/C567654
property_value: exactMatch http://identifiers.org/omim/613286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750091

[Term]
id: MONDO:0013212
name: Charcot-Marie-Tooth disease axonal type 2N
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." [Orphanet:228174]
subset: ordo_disease {source="Orphanet:228174"}
synonym: "AARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2N" RELATED [GARD:0012429]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [OMIM:613287]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical, OMIM:613287]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2N; CMT2N" RELATED [OMIM:613287]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [DOID:0110177]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287]
synonym: "CMT2N" EXACT [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174]
xref: DOID:0110177 {source="MONDO:equivalentTo"}
xref: GARD:0012429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:228174/attributed", source="ORDO:228174/ntbt", source="Orphanet:228174", source="DOID:0110177"}
xref: MESH:C567653 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613287 {source="MONDO:equivalentTo", source="ORDO:228174/e", source="Orphanet:228174", source="DOID:0110177"}
xref: Orphanet:228174 {source="OMIM:613287", source="MONDO:equivalentTo", source="DOID:0110177"}
xref: SCTID:719515001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2750090 {source="OMIM:613287", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228174"}
xref: UMLS:C4304671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110177", source="MONDO:Redundant", source="Orphanet:228174"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110177
property_value: exactMatch http://identifiers.org/mesh/C567653
property_value: exactMatch http://identifiers.org/omim/613287
property_value: exactMatch http://identifiers.org/snomedct/719515001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304671
property_value: exactMatch Orphanet:228174

[Term]
id: MONDO:0013213
name: CIHL
synonym: "CIHL" EXACT [MONDO:Lexical, OMIM:613290]
synonym: "hearing loss, cisplatin-induced, susceptibility to" RELATED [MONDO:Lexical, OMIM:613290]
synonym: "hearing loss, cisplatin-induced, susceptibility to; CIHL" RELATED [OMIM:613290]
xref: OMIM:613290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750088
property_value: closeMatch Orphanet:240863
property_value: exactMatch http://identifiers.org/omim/613290

[Term]
id: MONDO:0013214
name: bile acid malabsorption, primary
synonym: "bile acid malabsorption, primary" EXACT [MONDO:Lexical, OMIM:613291]
synonym: "bile acid malabsorption, primary; PBAM" RELATED [OMIM:613291]
synonym: "PBAM" RELATED [MONDO:Lexical, OMIM:613291]
xref: MESH:C567652 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613291 {source="MONDO:equivalentTo"}
xref: UMLS:C2750087 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613291"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C567652
property_value: exactMatch http://identifiers.org/omim/613291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750087

[Term]
id: MONDO:0013215
name: autosomal recessive nonsyndromic deafness 79
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 79" EXACT [DOID:0110526]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 79" EXACT [DOID:0110526, MONDORULE:2]
synonym: "deafness, autosomal recessive 79" RELATED [MONDO:Lexical, OMIM:613307]
synonym: "deafness, autosomal recessive 79; DFNB79" RELATED [OMIM:613307]
synonym: "deafness, autosomal recessive type 79" EXACT [MONDORULE:2, OMIM:613307]
synonym: "DFNB79" EXACT [DOID:0110526, MONDO:Lexical, OMIM:613307]
synonym: "TPRN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110526 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110526"}
xref: MESH:C567651 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613307 {source="DOID:0110526", source="MONDO:equivalentTo"}
xref: UMLS:C2750082 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613307"}
is_a: MONDO:0019588 {source="DC-OMIM:613307", source="DOID:0110526", source="MONDO:Redundant", source="OMIM:613307"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110526
property_value: exactMatch http://identifiers.org/mesh/C567651
property_value: exactMatch http://identifiers.org/omim/613307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750082

[Term]
id: MONDO:0013216
name: Diamond-Blackfan anemia 9
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA9" RELATED [MONDO:Lexical, OMIM:613308]
synonym: "Diamond-Blackfan anemia 9" EXACT [MONDO:Lexical, OMIM:613308]
synonym: "Diamond-Blackfan anemia 9; DBA9" RELATED [OMIM:613308]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS10" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308]
synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567650 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613308 {source="MONDO:equivalentTo"}
xref: UMLS:C2750081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613308"}
is_a: MONDO:0015253 {source="DC-OMIM:613308", source="MESH:C567650", source="MONDO:Redundant", source="MONDOLEX:0013216", source="OMIM:613308"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567650
property_value: exactMatch http://identifiers.org/omim/613308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750081

[Term]
id: MONDO:0013217
name: Diamond-Blackfan anemia 10
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA10" RELATED [MONDO:Lexical, OMIM:613309]
synonym: "Diamond-Blackfan anemia 10" EXACT [MONDO:Lexical, OMIM:613309]
synonym: "Diamond-Blackfan anemia 10; DBA10" RELATED [OMIM:613309]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS26" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309]
synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567649 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613309 {source="MONDO:equivalentTo"}
xref: UMLS:C2750080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613309"}
is_a: MONDO:0015253 {source="DC-OMIM:613309", source="MESH:C567649", source="MONDO:Redundant", source="MONDOLEX:0013217", source="OMIM:613309"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/mesh/C567649
property_value: exactMatch http://identifiers.org/omim/613309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750080

[Term]
id: MONDO:0013218
name: exudative vitreoretinopathy 5
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EVR5" RELATED [MONDO:Lexical, OMIM:613310]
synonym: "exudative vitreoretinopathy 5" EXACT [MONDO:Lexical, OMIM:613310]
synonym: "exudative vitreoretinopathy 5; EVR5" RELATED [OMIM:613310]
synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1, OMIM:613310]
synonym: "TSPAN12 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567648 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613310 {source="MONDO:equivalentTo"}
xref: UMLS:C2750079 {source="OMIM:613310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019516 {source="DC-OMIM:613310", source="MONDO:Redundant", source="OMIM:613310"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/mesh/C567648
property_value: exactMatch http://identifiers.org/omim/613310
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750079

[Term]
id: MONDO:0013219
name: hypophosphatemic rickets, autosomal recessive, 2
def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARHR2" RELATED [MONDO:Lexical, OMIM:613312]
synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1" EXACT [MONDO:design_pattern]
synonym: "ENPP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemic rickets, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:613312]
synonym: "hypophosphatemic rickets, autosomal recessive, 2; ARHR2" RELATED [OMIM:613312]
synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:613312]
xref: MESH:C567647 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613312 {source="MONDO:equivalentTo"}
xref: UMLS:C2750078 {source="OMIM:613312", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017324 {source="MONDO:Redundant", source="MONDOLEX:0013219", source="ORDO:289176/btnt"} ! autosomal recessive hypophosphatemic rickets
property_value: exactMatch http://identifiers.org/mesh/C567647
property_value: exactMatch http://identifiers.org/omim/613312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750078

[Term]
id: MONDO:0013220
name: hemochromatosis type 2B
def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern]
synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313]
synonym: "hemochromatosis, type 2B; HFE2B" RELATED [OMIM:613313]
synonym: "HFE2B" EXACT [DOID:0111032, MONDO:Lexical, OMIM:613313]
xref: DOID:0111032 {source="MONDO:equivalentTo"}
xref: MESH:C566557 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613313 {source="MONDO:equivalentTo", source="DOID:0111032"}
xref: UMLS:C1865616 {source="NCBI:mim2gene_medline", source="OMIM:613313", source="MONDO:equivalentTo"}
is_a: MONDO:0019257 {source="DOID:0111032", source="MONDO:Redundant", source="MONDOLEX:0013220"} ! hemochromatosis type 2
property_value: exactMatch DOID:0111032
property_value: exactMatch http://identifiers.org/mesh/C566557
property_value: exactMatch http://identifiers.org/omim/613313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1865616

[Term]
id: MONDO:0013221
name: Miyoshi muscular dystrophy 2
synonym: "Miyoshi muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:613318]
synonym: "MIYOSHI muscular dystrophy 2; MMD2" RELATED [OMIM:613318]
synonym: "Miyoshi myopathy 2" RELATED [OMIM:613318]
synonym: "MMD2" EXACT [MONDO:Lexical, OMIM:613318]
xref: DOID:0070200 {source="MONDO:equivalentTo"}
xref: MESH:C567646 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613318 {source="MONDO:equivalentTo"}
xref: UMLS:C2750077 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613318"}
is_a: MONDO:0009685 {source="ORDO:45448/btnt"} ! Miyoshi myopathy
property_value: exactMatch DOID:0070200
property_value: exactMatch http://identifiers.org/mesh/C567646
property_value: exactMatch http://identifiers.org/omim/613318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750077

[Term]
id: MONDO:0013222
name: Miyoshi muscular dystrophy 3
subset: ordo_disease {source="Orphanet:399096"}
synonym: "distal anoctaminopathy" EXACT [Orphanet:399096]
synonym: "Miyoshi muscular dystrophy 3" EXACT [MONDO:Lexical, OMIM:613319]
synonym: "Miyoshi muscular dystrophy 3; MMD3" RELATED [OMIM:613319]
synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Orphanet:399096]
synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319]
synonym: "MMD3" EXACT [MONDO:Lexical, OMIM:613319, Orphanet:399096]
xref: DOID:0070201 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:399096/attributed", source="ORDO:399096/ntbt", source="Orphanet:399096"}
xref: MESH:C567645 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613319 {source="MONDO:equivalentTo", source="ORDO:399096/e", source="Orphanet:399096"}
xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"}
xref: UMLS:C2750076 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613319", source="Orphanet:399096"}
is_a: MONDO:0009685 {source="OMIM:613319"} ! Miyoshi myopathy
property_value: exactMatch DOID:0070201
property_value: exactMatch http://identifiers.org/mesh/C567645
property_value: exactMatch http://identifiers.org/omim/613319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750076
property_value: exactMatch Orphanet:399096

[Term]
id: MONDO:0013223
name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type
def: "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:401979"}
synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [Orphanet:401979]
synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [OMIM:613320]
synonym: "PAM16 spondylodysplastic dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SMDMDM" RELATED [MONDO:Lexical, OMIM:613320]
synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT []
synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320]
synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type; SMDMDM" RELATED [OMIM:613320]
xref: ICD10:Q77.8 {source="ORDO:401979/attributed", source="ORDO:401979/ntbt", source="Orphanet:401979"}
xref: MESH:C567644 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613320 {source="MONDO:equivalentTo", source="ORDO:401979/e", source="Orphanet:401979"}
xref: Orphanet:401979 {source="OMIM:613320", source="MONDO:equivalentTo"}
xref: UMLS:C2750075 {source="OMIM:613320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:401979"}
is_a: MONDO:0019694 {source="Orphanet:401979"} ! spondylodysplastic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C567644
property_value: exactMatch http://identifiers.org/omim/613320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750075
property_value: exactMatch Orphanet:401979

[Term]
id: MONDO:0013224
name: rhabdoid tumor predisposition syndrome 2
def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern]
synonym: "rhabdoid tumor predisposition syndrome 2" EXACT [MONDO:Lexical, OMIM:613325]
synonym: "rhabdoid tumor predisposition syndrome 2; RTPS2" RELATED [OMIM:613325]
synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1, OMIM:613325]
synonym: "RTPS2" RELATED [MONDO:Lexical, OMIM:613325]
synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567643 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613325 {source="MONDO:equivalentTo"}
xref: UMLS:C2750074 {source="OMIM:613325", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016473 {source="MONDO:Redundant", source="MONDOLEX:0013224", source="OMIM:613325", source="ORDO:231108/btnt"} ! familial rhabdoid tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020560 {source="DC-OMIM:613325", source="MONDOLEX:0013224"} ! atypical teratoid rhabdoid tumor
property_value: exactMatch http://identifiers.org/mesh/C567643
property_value: exactMatch http://identifiers.org/omim/613325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750074

[Term]
id: MONDO:0013225
name: congenital generalized lipodystrophy type 4
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:228429"}
synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [DOID:0111138]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327]
synonym: "Brunzell syndrome AGPAT2-related" EXACT [DOID:0111138]
synonym: "BSCL4" EXACT [DOID:0111138]
synonym: "CAVIN1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CGL4" EXACT [DOID:0111138, MONDO:Lexical, OMIM:613327]
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" EXACT []
synonym: "GCL4" EXACT [DOID:0111138, Orphanet:228429]
synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138, Orphanet:228429]
synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:0111138]
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327]
synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327]
synonym: "lipodystrophy, congenital generalized, type 4; CGL4" RELATED [OMIM:613327]
xref: DOID:0111138 {source="MONDO:equivalentTo"}
xref: GARD:0010937 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="DOID:0111138", source="Orphanet:228429", source="ORDO:228429/attributed", source="ORDO:228429/ntbt"}
xref: MESH:C567642 {source="MONDO:equivalentTo"}
xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="ORDO:228429/e", source="MONDO:equivalentTo"}
xref: Orphanet:228429 {source="DOID:0111138", source="MONDO:equivalentTo", source="OMIM:613327"}
xref: UMLS:C2750069 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:228429", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613327"}
is_a: MONDO:0006536 {source="DC-OMIM:613327", source="DOID:0111138", source="MONDO:Redundant", source="MONDOLEX:0013225", source="OMIM:613327"} ! congenital generalized lipodystrophy (disease)
is_a: MONDO:0015110 {source="Orphanet:228429"} ! genetic cardiac rhythm disease
is_a: MONDO:0015885 {source="Orphanet:228429"} ! rare insulin-resistance syndrome
is_a: MONDO:0016110 {source="Orphanet:228429"} ! non-dystrophic myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0111138
property_value: exactMatch http://identifiers.org/mesh/C567642
property_value: exactMatch http://identifiers.org/omim/613327
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750069
property_value: exactMatch Orphanet:228429

[Term]
id: MONDO:0013226
name: combined immunodeficiency with faciooculoskeletal anomalies
def: "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." [Orphanet:221139]
subset: ordo_disease {source="Orphanet:221139"}
synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [OMIM:613328]
synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328]
synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139]
xref: ICD10:Q87.8 {source="ORDO:221139/attributed", source="ORDO:221139/ntbt", source="Orphanet:221139"}
xref: MESH:C567641 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613328 {source="MONDO:equivalentTo", source="ORDO:221139/e", source="Orphanet:221139"}
xref: Orphanet:221139 {source="MONDO:equivalentTo", source="OMIM:613328"}
xref: UMLS:C2750068 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613328", source="Orphanet:221139", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018035 {source="Orphanet:221139"} ! syndrome with combined immunodeficiency
is_a: MONDO:0043007 {source="Orphanet:221139"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C567641
property_value: exactMatch http://identifiers.org/omim/613328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750068
property_value: exactMatch Orphanet:221139

[Term]
id: MONDO:0013227
name: congenital plasminogen activator inhibitor type 1 deficiency
def: "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." [Orphanet:465]
subset: ordo_disease {source="Orphanet:465"}
synonym: "congenital PAI-1 deficiency" EXACT [Orphanet:465]
synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329]
synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381]
synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329]
xref: GARD:0004381 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D68.8 {source="ORDO:465/attributed", source="ORDO:465/ntbt", source="Orphanet:465"}
xref: MESH:C567640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C133884 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: OMIM:613329 {source="MONDO:equivalentTo", source="ORDO:465/e", source="Orphanet:465"}
xref: Orphanet:465 {source="MONDO:equivalentTo", source="OMIM:613329"}
xref: SCTID:717407006 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0019039 {source="Orphanet:465"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750067
property_value: exactMatch http://identifiers.org/mesh/C567640
property_value: exactMatch http://identifiers.org/omim/613329
property_value: exactMatch http://identifiers.org/snomedct/717407006
property_value: exactMatch NCIT:C133884
property_value: exactMatch Orphanet:465

[Term]
id: MONDO:0013228
name: spondylo-megaepiphyseal-metaphyseal dysplasia
subset: ordo_disease {source="Orphanet:228387"}
synonym: "SMMD" RELATED [MONDO:Lexical, OMIM:613330]
synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:613330]
synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia; SMMD" RELATED [OMIM:613330]
xref: ICD10:Q77.7 {source="ORDO:228387/attributed", source="ORDO:228387/ntbt", source="Orphanet:228387"}
xref: MESH:C567639 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613330 {source="MONDO:equivalentTo", source="ORDO:228387/e", source="Orphanet:228387"}
xref: Orphanet:228387 {source="MONDO:equivalentTo", source="OMIM:613330"}
xref: UMLS:C2750066 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228387", source="OMIM:613330"}
is_a: MONDO:0016761 {source="Orphanet:228387"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/mesh/C567639
property_value: exactMatch http://identifiers.org/omim/613330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750066
property_value: exactMatch Orphanet:228387

[Term]
id: MONDO:0013229
name: hot water reflex epilepsy
def: "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases." [Orphanet:166412]
comment: Editor note: TODO add ECTO
subset: ordo_disease {source="Orphanet:166412"}
synonym: "bathing epilepsy" RELATED [OMIM:613339]
synonym: "epilepsy, hot water" EXACT [MONDO:0000028]
synonym: "hot water epilepsy" EXACT [OMIMPS:613339]
synonym: "water immersion epilepsy" RELATED [OMIM:613339]
xref: DC:0000151 {source="MONDO:equivalentTo"}
xref: ICD10:G40.8 {source="ORDO:166412/ntbt", source="Orphanet:166412"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:613339 {source="DC:0000151", source="MONDO:equivalentTo"}
xref: Orphanet:166412 {source="MONDO:equivalentTo", source="OMIM:613339"}
xref: SCTID:230454005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.04"}
xref: UMLS:C0393729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613339"}
xref: UMLS:CN200053 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017768 {source="Orphanet:166412", source="linkedlifedata"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/snomedct/230454005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200053
property_value: exactMatch Orphanet:166412

[Term]
id: MONDO:0013230
name: epilepsy, hot water, 2
synonym: "epilepsy, hot water, 2" EXACT [MONDO:Lexical, OMIM:613340]
synonym: "epilepsy, hot water, 2; HWE2" RELATED [OMIM:613340]
synonym: "HWE2" RELATED [MONDO:Lexical, OMIM:613340]
xref: OMIM:613340 {source="MONDO:equivalentTo"}
xref: UMLS:C3150536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613340"}
is_a: MONDO:0013229 {source="MONDOLEX:0013230", source="OMIM:613340", source="ORDO:166412/btnt"} ! hot water reflex epilepsy
property_value: exactMatch http://identifiers.org/omim/613340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150536

[Term]
id: MONDO:0013231
name: Leber congenital amaurosis 14
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010883"}
synonym: "LCA14" EXACT [DOID:0110188, MONDO:Lexical, OMIM:613341]
synonym: "Leber congenital amaurosis 14" EXACT [MONDO:Lexical, OMIM:613341]
synonym: "Leber congenital amaurosis 14; LCA14" RELATED [OMIM:613341]
synonym: "Leber congenital amaurosis caused by mutation in LRAT" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 14" EXACT [DOID:0110188, MONDORULE:2, OMIM:613341]
synonym: "LRAT Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal dystrophy, early-onset Severe, LRAT-related" RELATED [OMIM:613341]
synonym: "retinitis pigmentosa, juvenile, LRAT-related" RELATED [OMIM:613341]
xref: DOID:0110188 {source="MONDO:equivalentTo"}
xref: GARD:0010883 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110188"}
xref: MESH:C567636 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613341 {source="MONDO:equivalentTo", source="DOID:0110188"}
xref: UMLS:C2750063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613341"}
is_a: MONDO:0018998 {source="DC-OMIM:613341", source="DOID:0110188", source="MESH:C567636", source="MONDO:Redundant", source="OMIM:613341"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750064
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750065
property_value: exactMatch DOID:0110188
property_value: exactMatch http://identifiers.org/mesh/C567636
property_value: exactMatch http://identifiers.org/omim/613341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750063
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14 xsd:anyURI {source="GARD:0010883"}

[Term]
id: MONDO:0013232
name: brachydactylous dwarfism, Mseleni type
def: "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." [Orphanet:2619]
subset: ordo_disease {source="Orphanet:2619"}
synonym: "brachydactylous dwarfism Mseleni type" RELATED [GARD:0000960]
synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960]
synonym: "Mseleni JOINT disease" RELATED [OMIM:613342]
synonym: "Mseleni joint disease" EXACT [Orphanet:2619]
xref: GARD:0000960 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.7 {source="ORDO:2619/attributed", source="ORDO:2619/ntbt", source="Orphanet:2619"}
xref: MESH:C537086 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2619/e", source="Orphanet:2619"}
xref: OMIM:613342 {source="MONDO:equivalentTo", source="ORDO:2619/e", source="Orphanet:2619"}
xref: Orphanet:2619 {source="OMIM:613342", source="MONDO:equivalentTo"}
xref: SCTID:715470008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.64"}
xref: UMLS:C2931420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2619/e", source="Orphanet:2619"}
is_a: MONDO:0016761 {source="Orphanet:2619"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150544
property_value: exactMatch http://identifiers.org/mesh/C537086
property_value: exactMatch http://identifiers.org/omim/613342
property_value: exactMatch http://identifiers.org/snomedct/715470008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931420
property_value: exactMatch Orphanet:2619

[Term]
id: MONDO:0013233
name: spondyloepimetaphyseal dysplasia, Handigodu type
def: "Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." [Orphanet:99642]
subset: ordo_disease {source="Orphanet:99642"}
synonym: "Handigodu JOINT disease" RELATED [OMIM:613343]
synonym: "Hjd" RELATED [OMIM:613343]
synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343]
xref: ICD10:Q77.7 {source="Orphanet:99642", source="ORDO:99642/attributed", source="ORDO:99642/ntbt"}
xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="ORDO:99642/e"}
xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"}
xref: UMLS:C3150545 {source="OMIM:613343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:99642"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/omim/613343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150545
property_value: exactMatch Orphanet:99642

[Term]
id: MONDO:0013234
name: hypokalemic periodic paralysis, type 2
synonym: "HOKPP2" RELATED [MONDO:Lexical, OMIM:613345]
synonym: "hypokalemic periodic paralysis, type 2" EXACT [MONDO:Lexical, OMIM:613345]
synonym: "hypokalemic periodic paralysis, type 2; HOKPP2" RELATED [OMIM:613345]
xref: MESH:C567635 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613345 {source="MONDO:equivalentTo"}
xref: UMLS:C2750061 {source="OMIM:613345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008223 {source="MESH:C567635", source="MONDOLEX:0013234", source="ORDO:681/btnt"} ! hypokalemic periodic paralysis
property_value: exactMatch http://identifiers.org/mesh/C567635
property_value: exactMatch http://identifiers.org/omim/613345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750061

[Term]
id: MONDO:0013235
name: pancreatic cancer, susceptibility to, 2
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BRCA2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial pancreatic carcinoma caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
synonym: "pancreatic cancer, susceptibility to, 2" EXACT [OMIM:613347]
synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613347]
synonym: "Pnca2" RELATED [OMIM:613347]
synonym: "susceptibility to pancreatic cancer 2" RELATED [OMIM:613347]
xref: OMIM:613347 {source="MONDO:equivalentTo"}
is_a: MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma
is_a: MONDO:0020573 {source="OMIM:613347"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150546
property_value: exactMatch http://identifiers.org/omim/613347

[Term]
id: MONDO:0013236
name: pancreatic cancer, susceptibility to, 3
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "familial pancreatic carcinoma caused by mutation in PALB2" EXACT [MONDO:design_pattern]
synonym: "PALB2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pancreatic cancer, susceptibility to, 3" EXACT [OMIM:613348]
synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613348]
synonym: "Pnca3" RELATED [OMIM:613348]
synonym: "susceptibility to pancreatic cancer 3" RELATED [OMIM:613348]
xref: OMIM:613348 {source="MONDO:equivalentTo"}
is_a: MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma
is_a: MONDO:0020573 {source="OMIM:613348"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150547
property_value: exactMatch http://identifiers.org/omim/613348

[Term]
id: MONDO:0013237
name: susceptibility to mononeuropathy of the median nerve, mild
synonym: "carpal tunnel syndrome, susceptibility to" RELATED [OMIM:613353]
synonym: "MNMN" RELATED [MONDO:Lexical, OMIM:613353]
synonym: "mononeuropathy of the median nerve, mild" EXACT [MONDO:Lexical, OMIM:613353]
synonym: "mononeuropathy of the median nerve, mild; MNMN" RELATED [OMIM:613353]
xref: OMIM:613353 {source="MONDO:equivalentTo"}
xref: UMLS:C3150596 {source="OMIM:613353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007275 {source="MONDOLEX:0013237"} ! carpal tunnel syndrome
property_value: exactMatch http://identifiers.org/omim/613353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150596

[Term]
id: MONDO:0013238
name: chromosome 17q23.1-q23.2 deletion syndrome
def: "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." [Orphanet:261279]
subset: ordo_malformation_syndrome {source="Orphanet:261279"}
synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279]
synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405]
synonym: "chromosome 17q23.1-q23.2 deletion syndrome" EXACT [OMIM:613355]
synonym: "Del(17)(q23.1q23.2)" EXACT [Orphanet:261279]
synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279]
synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279]
xref: DOID:0060405 {source="MONDO:equivalentTo"}
xref: GARD:0010936 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:261279/attributed", source="ORDO:261279/ntbt", source="Orphanet:261279", source="DOID:0060405"}
xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="ORDO:261279/e", source="DOID:0060405"}
xref: Orphanet:261279 {source="OMIM:613355", source="MONDO:equivalentTo", source="DOID:0060405"}
xref: SCTID:719584008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150607 {source="OMIM:613355", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304591 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613355", source="DOID:0060405"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016915 {source="Orphanet:261279"} ! partial deletion of the long arm of chromosome 17
property_value: exactMatch DOID:0060405
property_value: exactMatch http://identifiers.org/omim/613355
property_value: exactMatch http://identifiers.org/snomedct/719584008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304591
property_value: exactMatch Orphanet:261279

[Term]
id: MONDO:0013239
name: hereditary spastic paraplegia 41
def: "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." [Orphanet:320355]
subset: ordo_disease {source="Orphanet:320355"}
synonym: "autosomal dominant spastic paraplegia 41" EXACT [DOID:0110793]
synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793]
synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE:2]
synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364]
synonym: "spastic paraplegia 41, autosomal dominant; SPG41" RELATED [OMIM:613364]
synonym: "SPG41" EXACT [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355]
xref: DOID:0110793 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320355", source="ORDO:320355/attributed", source="ORDO:320355/ntbt", source="DOID:0110793"}
xref: OMIM:613364 {source="ORDO:320355/e", source="Orphanet:320355", source="MONDO:equivalentTo", source="DOID:0110793"}
xref: Orphanet:320355 {source="OMIM:613364", source="MONDO:equivalentTo", source="DOID:0110793"}
xref: SCTID:763069002 {source="MONDO:equivalentTo"}
xref: UMLS:CN203988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015088 {source="Orphanet:320355"} ! autosomal dominant pure spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2680445
property_value: exactMatch DOID:0110793
property_value: exactMatch http://identifiers.org/omim/613364
property_value: exactMatch http://identifiers.org/snomedct/763069002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203988
property_value: exactMatch Orphanet:320355

[Term]
id: MONDO:0013240
name: maturity-onset diabetes of the young type 10
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "INS maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in INS" EXACT []
synonym: "maturity-onset diabetes of the young, type 10" RELATED [MONDO:Lexical, OMIM:613370]
synonym: "maturity-onset diabetes of the young, type 10; MODY10" RELATED [OMIM:613370]
synonym: "MODY10" EXACT [DOID:0111108, MONDO:Lexical, OMIM:613370]
xref: DOID:0111108 {source="MONDO:equivalentTo"}
xref: OMIM:613370 {source="DOID:0111108", source="MONDO:equivalentTo"}
xref: SCTID:609577006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C3150617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613370"}
is_a: MONDO:0018911 {source="DC-OMIM:613370", source="DOID:0111108", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111108
property_value: exactMatch http://identifiers.org/omim/613370
property_value: exactMatch http://identifiers.org/snomedct/609577006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150617

[Term]
id: MONDO:0013241
name: spinocerebellar ataxia type 30
def: "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia." [Orphanet:211017]
subset: gard_rare
subset: ordo_disease {source="Orphanet:211017"}
synonym: "SCA30" EXACT [GARD:0004950, MONDO:Lexical, OMIM:613371, Orphanet:211017]
synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371]
synonym: "spinocerebellar ataxia 30; SCA30" RELATED [OMIM:613371]
synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950]
xref: DOID:0050979 {source="MONDO:equivalentTo"}
xref: GARD:0004950 {source="MONDO:equivalentTo"}
xref: ICD10:G11.2 {source="ORDO:211017/attributed", source="ORDO:211017/ntbt", source="Orphanet:211017"}
xref: OMIM:613371 {source="ORDO:211017/e", source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979"}
xref: Orphanet:211017 {source="MONDO:equivalentTo", source="OMIM:613371"}
xref: SCTID:719253007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2936793 {source="GARD:0004950", source="MEDGEN:kboom-pr98-c99", source="ORDO:211017/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:211017", source="OMIM:613371"}
xref: UMLS:C4304845 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="Orphanet:211017"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch DOID:0050979
property_value: exactMatch http://identifiers.org/mesh/C537206
property_value: exactMatch http://identifiers.org/omim/613371
property_value: exactMatch http://identifiers.org/snomedct/719253007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936793
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304845
property_value: exactMatch Orphanet:211017

[Term]
id: MONDO:0013242
name: maturity-onset diabetes of the young type 11
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BLK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in BLK" EXACT []
synonym: "maturity-onset diabetes of the young, type 11" RELATED [MONDO:Lexical, OMIM:613375]
synonym: "maturity-onset diabetes of the young, type 11; MODY11" RELATED [OMIM:613375]
synonym: "MODY11" EXACT [DOID:0111109, MONDO:Lexical, OMIM:613375]
xref: DOID:0111109 {source="MONDO:equivalentTo"}
xref: OMIM:613375 {source="DOID:0111109", source="MONDO:equivalentTo"}
xref: SCTID:609578001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.28"}
xref: UMLS:C3150618 {source="OMIM:613375", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:613375", source="DOID:0111109", source="MONDO:Redundant", source="linkedlifedata"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111109
property_value: exactMatch http://identifiers.org/omim/613375
property_value: exactMatch http://identifiers.org/snomedct/609578001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150618

[Term]
id: MONDO:0013243
name: neuronopathy, distal hereditary motor, type 2C
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HMN 2C" RELATED [OMIM:613376]
synonym: "HMN2C" RELATED [MONDO:Lexical, OMIM:613376]
synonym: "HSPB3 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB3" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical, OMIM:613376]
synonym: "neuronopathy, distal hereditary motor, type IIC; HMN2C" RELATED [OMIM:613376]
synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [OMIM:613376]
xref: OMIM:613376 {source="MONDO:equivalentTo"}
xref: UMLS:C3150619 {source="OMIM:613376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:613376", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2
property_value: exactMatch http://identifiers.org/omim/613376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150619

[Term]
id: MONDO:0013244
name: brachydactyly type E2
def: "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDE2" EXACT [DOID:0110976, MONDO:Lexical, OMIM:613382]
synonym: "brachydactyly type E caused by mutation in PTHLH" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical, OMIM:613382]
synonym: "brachydactyly, type E2; BDE2" RELATED [OMIM:613382]
synonym: "PTHLH brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110976 {source="MONDO:equivalentTo"}
xref: OMIM:613382 {source="DOID:0110976", source="MONDO:equivalentTo"}
xref: UMLS:C3150644 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613382"}
is_a: MONDO:0019677 {source="MONDO:Redundant", source="ORDO:93387/btnt"} ! brachydactyly type E
property_value: exactMatch DOID:0110976
property_value: exactMatch http://identifiers.org/omim/613382
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150644

[Term]
id: MONDO:0013245
name: syndromic multisystem autoimmune disease due to ITCH deficiency
subset: gard_rare
subset: ordo_disease {source="Orphanet:228426"}
synonym: "ADMFD" RELATED [MONDO:Lexical, OMIM:613385]
synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385]
synonym: "autoimmune disease, multisystem, with facial dysmorphism; ADMFD" RELATED [OMIM:613385]
synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775]
synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775]
synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775]
xref: GARD:0010775 {source="MONDO:equivalentTo"}
xref: OMIM:613385 {source="ORDO:228426/e", source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo"}
xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"}
xref: UMLS:C3150649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613385"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:228426", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:228426"} ! respiratory system disease
is_a: MONDO:0015159 {source="Orphanet:228426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015709 {source="Orphanet:228426"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0015939 {source="Orphanet:228426"} ! systemic autoimmune disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019126 {source="Orphanet:228426"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:228426"} ! autoimmune enteropathy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/613385
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150649
property_value: exactMatch Orphanet:228426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency xsd:anyURI {source="GARD:0010775"}

[Term]
id: MONDO:0013246
name: NAFLD2
subset: predisposition
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613387]
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 2; NAFLD2" RELATED [OMIM:613387]
synonym: "NAFLD2" EXACT [MONDO:Lexical, OMIM:613387]
xref: OMIM:613387 {source="MONDO:equivalentTo"}
is_a: MONDO:0013209 {source="DC-OMIM:613387", source="MONDOLEX:0013246"} ! non-alcoholic fatty liver disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150651
property_value: closeMatch Orphanet:33271
property_value: exactMatch http://identifiers.org/omim/613387

[Term]
id: MONDO:0013247
name: Fanconi renotubular syndrome 2
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi renotubular syndrome 2" EXACT [MONDO:Lexical, OMIM:613388]
synonym: "Fanconi renotubular syndrome 2; FRTS2" RELATED [OMIM:613388]
synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1, OMIM:613388]
synonym: "Fanconi syndrome caused by mutation in SLC34A1" EXACT [MONDO:design_pattern]
synonym: "FRTS2" RELATED [MONDO:Lexical, OMIM:613388]
synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613388 {source="MONDO:equivalentTo"}
xref: UMLS:C3150652 {source="OMIM:613388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007600 {source="ORDO:3337/btnt"} ! primary Fanconi syndrome
property_value: exactMatch http://identifiers.org/omim/613388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150652

[Term]
id: MONDO:0013248
name: Fanconi anemia complementation group O
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FANCO" EXACT [DOID:0111096, MONDO:Lexical, OMIM:613390]
synonym: "Fanconi anemia caused by mutation in RAD51C" EXACT []
synonym: "Fanconi anemia caused by mutation in Rad51C" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type O" EXACT [DOID:0111096, MONDORULE:1]
synonym: "Fanconi anemia, complementation group O" RELATED [MONDO:Lexical, OMIM:613390]
synonym: "Fanconi anemia, complementation group O; FANCO" RELATED [OMIM:613390]
synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1, OMIM:613390]
synonym: "RAD51C Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Rad51C Fanconi anemia" EXACT [MONDO:design_pattern]
xref: DOID:0111096 {source="MONDO:equivalentTo"}
xref: OMIM:613390 {source="DOID:0111096", source="MONDO:equivalentTo"}
xref: UMLS:C3150653 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613390"}
is_a: MONDO:0019391 {source="DC-OMIM:613390", source="DOID:0111096", source="MONDO:Redundant", source="OMIM:613390"} ! Fanconi anemia
property_value: exactMatch DOID:0111096
property_value: exactMatch http://identifiers.org/omim/613390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150653

[Term]
id: MONDO:0013249
name: autosomal recessive nonsyndromic deafness 84A
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 84A" EXACT [DOID:0110529]
synonym: "autosomal recessive deafness 84A with vestibular dysfunction" EXACT [DOID:0110529]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 84A" EXACT [DOID:0110529, MONDORULE:4]
synonym: "deafness, autosomal recessive 84" RELATED [OMIM:613391]
synonym: "deafness, autosomal recessive 84A" RELATED [MONDO:Lexical, OMIM:613391]
synonym: "deafness, autosomal recessive 84A, with vestibular dysfunction" RELATED [OMIM:613391]
synonym: "deafness, autosomal recessive 84A; DFNB84A" RELATED [OMIM:613391]
synonym: "deafness, autosomal recessive type 84A" EXACT [MONDORULE:4, OMIM:613391]
synonym: "DFNB84A" EXACT [DOID:0110529, MONDO:Lexical, OMIM:613391]
synonym: "PTPRQ autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110529 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110529"}
xref: OMIM:613391 {source="DOID:0110529", source="MONDO:equivalentTo"}
xref: UMLS:C3150654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613391"}
is_a: MONDO:0019588 {source="DC-OMIM:613391", source="DOID:0110529", source="MONDO:Redundant", source="OMIM:613391"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110529
property_value: exactMatch http://identifiers.org/omim/613391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150654

[Term]
id: MONDO:0013250
name: autosomal recessive nonsyndromic deafness 85
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2." [DOID:0110531, PMID:19888295]
synonym: "autosomal recessive deafness 85" EXACT [DOID:0110531]
synonym: "autosomal recessive nonsyndromic deafness type 85" EXACT [DOID:0110531, MONDORULE:2]
synonym: "deafness, autosomal recessive 85" RELATED [MONDO:Lexical, OMIM:613392]
synonym: "deafness, autosomal recessive 85; DFNB85" RELATED [OMIM:613392]
synonym: "DFNB85" EXACT [DOID:0110531, MONDO:Lexical, OMIM:613392]
xref: DOID:0110531 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110531"}
xref: OMIM:613392 {source="MONDO:equivalentTo", source="DOID:0110531"}
xref: UMLS:C3160740 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613392"}
is_a: MONDO:0019588 {source="DC-OMIM:613392", source="DOID:0110531", source="OMIM:613392"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110531
property_value: exactMatch http://identifiers.org/omim/613392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160740

[Term]
id: MONDO:0013251
name: Birbeck granule deficiency
synonym: "Birbeck granule deficiency" EXACT [OMIM:613393]
synonym: "Birbeck granules, absence of" RELATED [OMIM:613393]
xref: OMIM:613393 {source="MONDO:equivalentTo"}
xref: UMLS:C3150657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613393"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150657

[Term]
id: MONDO:0013252
name: Warsaw breakage syndrome
def: "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." [DOID:0060535, PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203]
subset: ordo_malformation_syndrome {source="Orphanet:280558"}
synonym: "WABS" EXACT [DOID:0060535, MONDO:Lexical, OMIM:613398, Orphanet:280558]
synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398]
synonym: "WARSAW breakage syndrome; WABS" RELATED [OMIM:613398]
xref: DOID:0060535 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="DOID:0060535", source="ORDO:280558/e"}
xref: Orphanet:280558 {source="OMIM:613398", source="MONDO:equivalentTo", source="DOID:0060535"}
xref: SCTID:702829000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150658 {source="OMIM:613398", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015945 {source="Orphanet:280558"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:280558"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060535
property_value: exactMatch http://identifiers.org/omim/613398
property_value: exactMatch http://identifiers.org/snomedct/702829000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150658
property_value: exactMatch Orphanet:280558

[Term]
id: MONDO:0013253
name: breast-ovarian cancer, familial, susceptibility to, 3
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "breast cancer, familial, susceptibility to, 3" RELATED [OMIM:613399]
synonym: "breast-ovarian cancer, familial, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613399]
synonym: "breast-ovarian cancer, familial, susceptibility to, 3; BROVCA3" RELATED [OMIM:613399]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613399]
synonym: "BROVCA3" RELATED [MONDO:Lexical, OMIM:613399]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C" EXACT []
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in Rad51C" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [OMIM:613399]
synonym: "RAD51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Rad51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern]
synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [OMIM:613399]
xref: OMIM:613399 {source="MONDO:equivalentTo"}
is_a: MONDO:0003582 {source="DC-OMIM:613399", source="MONDO:Redundant", source="OMIM:613399", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome
relationship: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150659
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150660
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150661
property_value: exactMatch http://identifiers.org/omim/613399

[Term]
id: MONDO:0013254
name: microcephaly, seizures, and developmental delay
subset: gard_rare {source="GARD:0010933"}
synonym: "early infantile epileptic encephalopathy-10" RELATED [GARD:0010933]
synonym: "EIEE10" RELATED [GARD:0010933]
synonym: "epileptic encephalopathy, early infantile, 10" RELATED [OMIM:613402]
synonym: "MCSZ" RELATED [MONDO:Lexical, OMIM:613402]
synonym: "microcephaly - seizures - developmental delay" RELATED [GARD:0010933]
synonym: "microcephaly, seizures, and developmental delay" EXACT [MONDO:Lexical, OMIM:613402]
synonym: "microcephaly, seizures, and developmental delay; MCSZ" RELATED [OMIM:613402]
xref: GARD:0010933 {source="MONDO:equivalentTo"}
xref: OMIM:613402 {source="MONDO:equivalentTo"}
xref: Orphanet:228418 {source="MONDO:obsoleteEquivalent", source="GARD:0010933"}
xref: UMLS:C3150667 {source="OMIM:613402", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001149 {source="https://github.com/monarch-initiative/mondo/issues/1753"} ! microcephaly (disease)
is_a: MONDO:0016021 {source="DC-OMIM:613402", source="OMIM:613402"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/613402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150667
property_value: exactMatch Orphanet:228418
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay xsd:anyURI {source="GARD:0010933"}

[Term]
id: MONDO:0013255
name: arthrogryposis, renal dysfunction, and cholestasis 2
def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCS2" RELATED [MONDO:Lexical, OMIM:613404]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT [MONDO:Lexical, OMIM:613404]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 2; ARCS2" RELATED [OMIM:613404]
synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1, OMIM:613404]
synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39" EXACT [MONDO:design_pattern]
synonym: "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613404 {source="MONDO:equivalentTo"}
xref: UMLS:C3150672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613404"}
is_a: MONDO:0017123 {source="DC-OMIM:613404", source="MONDO:Redundant", source="OMIM:613404", source="ORDO:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome
property_value: exactMatch http://identifiers.org/omim/613404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150672

[Term]
id: MONDO:0013256
name: chromosome 15q24 deletion syndrome
def: "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." [Orphanet:94065]
subset: ordo_malformation_syndrome {source="Orphanet:94065"}
synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785]
synonym: "chromosome 15q24 deletion syndrome" EXACT [OMIM:613406]
synonym: "chromosome 15Q24 Duplication syndrome" RELATED [OMIM:613406]
synonym: "Del(15)(q24)" EXACT [Orphanet:94065]
synonym: "monosomy 15q24" EXACT [Orphanet:94065]
synonym: "WITKOS" RELATED [OMIM:613406]
synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406]
synonym: "Witteveen-Kolk syndrome; WITKOS" RELATED [OMIM:613406]
xref: DOID:0060395 {source="MONDO:equivalentTo"}
xref: GARD:0012219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="DOID:0060395", source="Orphanet:94065", source="ORDO:94065/attributed", source="ORDO:94065/ntbt"}
xref: MESH:C579849 {source="DOID:0060395", source="MONDO:equivalentTo"}
xref: OMIM:613406 {source="MONDO:subClassOf", source="DOID:0060395", source="Orphanet:94065", source="MONDO:equivalentTo", source="ORDO:94065/ntbt"}
xref: Orphanet:94065 {source="DOID:0060395", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:613406"}
xref: SCTID:699308002 {source="MONDO:equivalentTo"}
xref: UMLS:C3150674 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613406"}
xref: UMLS:CN237818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613406", source="DOID:0060395"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:94065"} ! partial deletion of the long arm of chromosome 15
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0044699 ! SIN3A-related intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150675
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3697269
property_value: exactMatch DOID:0060395
property_value: exactMatch http://identifiers.org/mesh/C579849
property_value: exactMatch http://identifiers.org/omim/613406
property_value: exactMatch http://identifiers.org/snomedct/699308002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237818
property_value: exactMatch Orphanet:94065

[Term]
id: MONDO:0013257
name: LPRS6
subset: predisposition
synonym: "leprosy, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:613407]
synonym: "leprosy, susceptibility to, 6; LPRS6" RELATED [OMIM:613407]
synonym: "LPRS6" EXACT [MONDO:Lexical, OMIM:613407]
xref: OMIM:613407 {source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="DC-OMIM:613407"} ! leprosy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150676
property_value: exactMatch http://identifiers.org/omim/613407

[Term]
id: MONDO:0013258
name: autism, susceptibility to, 16
subset: predisposition
synonym: "autism with or without seizures" RELATED [OMIM:613410]
synonym: "autism, susceptibility to, 16" EXACT [MONDO:Lexical, OMIM:613410]
synonym: "autism, susceptibility to, 16; AUTS16" RELATED [OMIM:613410]
synonym: "autism, susceptibility to, type 16" EXACT [MONDORULE:2, OMIM:613410]
synonym: "AUTS16" RELATED [MONDO:Lexical, OMIM:613410]
synonym: "susceptibility to autism 16" RELATED [OMIM:613410]
xref: OMIM:613410 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:613410"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150677
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/613410

[Term]
id: MONDO:0013259
name: Oguchi disease-2
def: "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness Oguchi type 2" EXACT [DOID:0110713]
synonym: "CSNBO2" EXACT [DOID:0110713]
synonym: "GRK1 Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, Oguchi type 2" RELATED [OMIM:613411]
synonym: "Oguchi disease 2" RELATED [OMIM:613411]
synonym: "Oguchi disease caused by mutation in GRK1" EXACT [MONDO:design_pattern]
synonym: "Oguchi disease type 2" EXACT [MONDORULE:1, OMIM:613411]
xref: DOID:0110713 {source="MONDO:equivalentTo"}
xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"}
xref: UMLS:C3150678 {source="OMIM:613411", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019152 {source="MONDO:Redundant", source="ORDO:75382/btnt"} ! Oguchi disease
relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110713"} ! hereditary night blindness
property_value: exactMatch DOID:0110713
property_value: exactMatch http://identifiers.org/omim/613411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150678

[Term]
id: MONDO:0013260
name: EOE2
synonym: "EOE2" EXACT [MONDO:Lexical, OMIM:613412]
synonym: "esophagitis, eosinophilic, 2" RELATED [MONDO:Lexical, OMIM:613412]
synonym: "esophagitis, eosinophilic, 2; EOE2" RELATED [OMIM:613412]
xref: OMIM:613412 {source="MONDO:equivalentTo"}
xref: UMLS:C3150679 {source="NCBI:mim2gene_medline", source="OMIM:613412", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005361 {source="DC-OMIM:613412", source="MONDOLEX:0013260"} ! eosinophilic esophagitis
property_value: exactMatch http://identifiers.org/omim/613412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150679

[Term]
id: MONDO:0013261
name: dilated cardiomyopathy 1R
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical, OMIM:613424]
synonym: "cardiomyopathy, dilated, 1R; CMD1R" RELATED [OMIM:613424]
synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4, OMIM:613424]
synonym: "CMD1R" EXACT [DOID:0110456, MONDO:Lexical, OMIM:613424]
synonym: "dilated cardiomyopathy type 1R" EXACT [DOID:0110456, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 4" RELATED [OMIM:613424]
xref: DOID:0110456 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110456"}
xref: OMIM:613424 {source="DOID:0110456", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:613424", source="MONDOLEX:0013261", source="OMIM:613424"} ! left ventricular noncompaction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150681
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150682
property_value: exactMatch DOID:0110456
property_value: exactMatch http://identifiers.org/omim/613424

[Term]
id: MONDO:0013262
name: dilated cardiomyopathy 1S
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0012832"}
synonym: "cardiomyopathy, dilated, 1S" RELATED [GARD:0012832, MONDO:Lexical, OMIM:613426]
synonym: "cardiomyopathy, dilated, 1S; CMD1S" RELATED [OMIM:613426]
synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4, OMIM:613426]
synonym: "CMD1S" EXACT [DOID:0110454, MONDO:Lexical, OMIM:613426]
synonym: "dilated cardiomyopathy type 1S" EXACT [DOID:0110454, MONDORULE:4]
synonym: "dilated cardiomyopathy-1S" RELATED [GARD:0012832]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832, OMIM:613426]
synonym: "MYH7 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110454 {source="MONDO:equivalentTo"}
xref: GARD:0012832 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110454"}
xref: MESH:C563538 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613426 {source="MONDO:equivalentTo", source="DOID:0110454"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
is_a: MONDO:0016195 ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0018901 {source="DC-OMIM:613426", source="MONDOLEX:0013262", source="OMIM:613426"} ! left ventricular noncompaction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834481
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150690
property_value: exactMatch DOID:0110454
property_value: exactMatch http://identifiers.org/mesh/C563538
property_value: exactMatch http://identifiers.org/omim/613426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s xsd:anyURI {source="GARD:0012832"}

[Term]
id: MONDO:0013263
name: retinitis pigmentosa 54
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PCARE retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 54" EXACT [MONDO:Lexical, OMIM:613428]
synonym: "retinitis pigmentosa 54; RP54" RELATED [OMIM:613428]
synonym: "retinitis pigmentosa caused by mutation in PCARE" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 54" EXACT [DOID:0110364, MONDORULE:2, OMIM:613428]
synonym: "RP54" EXACT [DOID:0110364, MONDO:Lexical, OMIM:613428]
xref: DOID:0110364 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110364"}
xref: OMIM:613428 {source="MONDO:equivalentTo", source="DOID:0110364"}
xref: UMLS:C3150691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613428"}
is_a: MONDO:0019200 {source="DC-OMIM:613428", source="DOID:0110364", source="MONDO:Redundant", source="OMIM:613428"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110364
property_value: exactMatch http://identifiers.org/omim/613428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150691

[Term]
id: MONDO:0013264
name: amyotrophic lateral sclerosis type 12
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435]
synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435]
synonym: "amyotrophic lateral sclerosis 12; ALS12" RELATED [OMIM:613435]
synonym: "amyotrophic lateral sclerosis caused by mutation in OPTN" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 12" EXACT [MONDORULE:2, OMIM:613435]
synonym: "OPTN amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060203 {source="MONDO:equivalentTo"}
xref: OMIM:613435 {source="MONDO:equivalentTo", source="DOID:0060203"}
xref: UMLS:C3150692 {source="OMIM:613435", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060203
property_value: exactMatch http://identifiers.org/omim/613435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150692

[Term]
id: MONDO:0013265
name: autism, susceptibility to, 17
subset: predisposition
synonym: "autism, susceptibility to, 17" EXACT [MONDO:Lexical, OMIM:613436]
synonym: "autism, susceptibility to, 17; AUTS17" RELATED [OMIM:613436]
synonym: "autism, susceptibility to, type 17" EXACT [MONDORULE:2, OMIM:613436]
synonym: "AUTS17" RELATED [MONDO:Lexical, OMIM:613436]
synonym: "susceptibility to autism 17" RELATED [OMIM:613436]
xref: OMIM:613436 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="DC-OMIM:613436", source="MONDO:Redundant", source="MONDOLEX:0013265", source="OMIM:613436"} ! autism (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150693
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/613436

[Term]
id: MONDO:0013266
name: intellectual disability, autosomal dominant 20
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 20" RELATED [DOID:0070050]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C" EXACT [MONDO:design_pattern]
synonym: "chromosome 5Q14.3 deletion syndrome, proximal" RELATED [OMIM:613443]
synonym: "MEF2C autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 20" EXACT [DOID:0070050, MONDO:Lexical, OMIM:613443]
synonym: "mental retardation, autosomal dominant 20; MRD20" RELATED [OMIM:613443]
synonym: "mental retardation, autosomal dominant type 20" EXACT [MONDORULE:2, OMIM:613443]
synonym: "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED [OMIM:613443]
synonym: "MRD20" EXACT [DOID:0070050, MONDO:Lexical, OMIM:613443]
xref: DOID:0070050 {source="MONDO:equivalentTo"}
xref: OMIM:613443 {source="MONDO:equivalentTo", source="DOID:0070050"}
xref: UMLS:C3150700 {source="OMIM:613443", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:613443", source="DOID:0070050", source="MONDO:Redundant", source="OMIM:613443"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070050
property_value: exactMatch http://identifiers.org/omim/613443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150700

[Term]
id: MONDO:0013267
name: distal 16p11.2 microdeletion syndrome
def: "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." [Orphanet:261222]
subset: ordo_malformation_syndrome {source="Orphanet:261222"}
synonym: "body Mass index quantitative trait locus 16" RELATED [OMIM:613444]
synonym: "chromosome 16p11.2 deletion syndrome, 220-KB" RELATED [OMIM:613444]
synonym: "chromosome 16p11.2 deletion syndrome, 220kb" RELATED [DOID:0060398]
synonym: "chromosome 16p11.2 deletion syndrome, type 220kb" EXACT [DOID:0060398, MONDORULE:9]
synonym: "distal 16p11.2 microdeletion syndrome" EXACT [DOID:0060398]
synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222]
synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222]
synonym: "obesity, susceptibility to" RELATED [OMIM:613444]
xref: DOID:0060398 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="DOID:0060398", source="ORDO:261222/attributed", source="ORDO:261222/ntbt", source="Orphanet:261222"}
xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="ORDO:261222/e"}
xref: Orphanet:261222 {source="DOID:0060398", source="OMIM:613444", source="MONDO:equivalentTo"}
xref: SCTID:733521003 {source="MONDO:equivalentTo"}
xref: UMLS:C3150701 {source="MEDGEN:kboom-pr98-c99", source="OMIM:613444", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4518824 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613444", source="DOID:0060398"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016565 {source="Orphanet:261222"} ! syndromic genetic obesity
is_a: MONDO:0016894 {source="Orphanet:261222"} ! partial deletion of the short arm of chromosome 16
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1843898
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150702
property_value: exactMatch DOID:0060398
property_value: exactMatch http://identifiers.org/omim/613444
property_value: exactMatch http://identifiers.org/snomedct/733521003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518824
property_value: exactMatch Orphanet:261222

[Term]
id: MONDO:0013268
name: frontonasal dysplasia with alopecia and genital anomaly
def: "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." [Orphanet:228390]
subset: gard_rare {source="GARD:0012641"}
subset: ordo_malformation_syndrome {source="Orphanet:228390"}
synonym: "ALX4-related FNDAG" EXACT [Orphanet:228390]
synonym: "craniofrontonasal dysplasia with alopecia and hypogonadism" EXACT [Orphanet:228390]
synonym: "FND2" RELATED [MONDO:Lexical, OMIM:613451]
synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451]
synonym: "frontonasal dysplasia 2; FND2" RELATED [OMIM:613451]
synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451]
synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390]
xref: GARD:0012641 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:228390", source="ORDO:228390/attributed", source="ORDO:228390/ntbt"}
xref: OMIM:613451 {source="ORDO:228390/e", source="Orphanet:228390", source="MONDO:equivalentTo"}
xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"}
xref: SCTID:725029001 {source="MONDO:equivalentTo"}
xref: UMLS:C3150703 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613451"}
is_a: MONDO:0016643 {source="DC-OMIM:613451", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:228390"} ! genetic alopecia
property_value: exactMatch http://identifiers.org/omim/613451
property_value: exactMatch http://identifiers.org/snomedct/725029001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150703
property_value: exactMatch Orphanet:228390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly xsd:anyURI {source="GARD:0012641"}

[Term]
id: MONDO:0013269
name: autosomal recessive nonsyndromic deafness 91
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 91" EXACT [DOID:0110536]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 91" EXACT [DOID:0110536, MONDORULE:2]
synonym: "deafness, autosomal recessive 91" RELATED [MONDO:Lexical, OMIM:613453]
synonym: "deafness, autosomal recessive 91; DFNB91" RELATED [OMIM:613453]
synonym: "deafness, autosomal recessive type 91" EXACT [MONDORULE:2, OMIM:613453]
synonym: "DFNB91" EXACT [DOID:0110536, MONDO:Lexical, OMIM:613453]
synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110536 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110536"}
xref: OMIM:613453 {source="DOID:0110536", source="MONDO:equivalentTo"}
xref: UMLS:C3150704 {source="OMIM:613453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:613453", source="DOID:0110536", source="MONDO:Redundant", source="OMIM:613453"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110536
property_value: exactMatch http://identifiers.org/omim/613453
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150704

[Term]
id: MONDO:0013270
name: Rett syndrome, congenital variant
synonym: "Rett syndrome, congenital variant" EXACT [OMIM:613454]
xref: OMIM:613454 {source="MONDO:equivalentTo"}
xref: UMLS:C3150705 {source="OMIM:613454", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017746 {source="ORDO:3095/btnt"} ! atypical Rett syndrome
is_a: MONDO:0100040 ! FOXG1 disorder
property_value: exactMatch http://identifiers.org/omim/613454
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150705

[Term]
id: MONDO:0013271
name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
subset: gard_rare {source="GARD:0012640"}
subset: ordo_malformation_syndrome {source="Orphanet:306542"}
synonym: "ALX1-related frontonasal dysplasia" EXACT [Orphanet:306542]
synonym: "FND3" RELATED [MONDO:Lexical, OMIM:613456]
synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456]
synonym: "frontonasal dysplasia 3; FND3" RELATED [OMIM:613456]
synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456]
xref: GARD:0012640 {source="MONDO:equivalentTo"}
xref: OMIM:613456 {source="MONDO:equivalentTo", source="ORDO:306542/e", source="Orphanet:306542"}
xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"}
xref: UMLS:C3150706 {source="NCBI:mim2gene_medline", source="OMIM:613456", source="MONDO:equivalentTo"}
is_a: MONDO:0015334 {source="Orphanet:306542"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015335 {source="Orphanet:306542"} ! orofacial clefting syndrome
is_a: MONDO:0016643 {source="DC-OMIM:613456", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/omim/613456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150706
property_value: exactMatch Orphanet:306542
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome xsd:anyURI {source="GARD:0012640"}

[Term]
id: MONDO:0013272
name: chromosome 14q11-q22 deletion syndrome
def: "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." [Orphanet:261120]
subset: ordo_malformation_syndrome {source="Orphanet:261120"}
synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392]
synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [OMIM:613457]
synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120]
synonym: "monosomy 14q11.2" EXACT [Orphanet:261120]
xref: DOID:0060392 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:261120", source="ORDO:261120/attributed", source="ORDO:261120/ntbt"}
xref: OMIM:613457 {source="ORDO:261120/e", source="Orphanet:261120", source="MONDO:equivalentTo", source="DOID:0060392"}
xref: Orphanet:261120 {source="OMIM:613457", source="MONDO:equivalentTo", source="DOID:0060392"}
xref: SCTID:719047001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150707 {source="OMIM:613457", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304999 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613457", source="DOID:0060392"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016912 {source="Orphanet:261120"} ! partial deletion of the long arm of chromosome 14
property_value: exactMatch DOID:0060392
property_value: exactMatch http://identifiers.org/omim/613457
property_value: exactMatch http://identifiers.org/snomedct/719047001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304999
property_value: exactMatch Orphanet:261120

[Term]
id: MONDO:0013273
name: chromosome 16p13.3 duplication syndrome
def: "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems." [Orphanet:96078]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:96078"}
synonym: "16p13.3 duplication" RELATED [GARD:0010755]
synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431]
synonym: "chromosome 16p13.3 duplication" RELATED [GARD:0010755]
synonym: "chromosome 16p13.3 duplication syndrome" EXACT [OMIM:613458]
synonym: "distal duplication 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "distal trisomy 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "dup(16)(p13.3)" EXACT [Orphanet:96078]
synonym: "interstitial 16p13.3 duplication" RELATED [GARD:0010755]
synonym: "telomeric duplication 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "trisomy 16pter" EXACT [Orphanet:96078]
xref: DOID:0060431 {source="MONDO:equivalentTo"}
xref: GARD:0010755 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="Orphanet:96078", source="DOID:0060431", source="ORDO:96078/attributed", source="ORDO:96078/ntbt"}
xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="GARD:0010755", source="ORDO:96078/e"}
xref: Orphanet:96078 {source="DOID:0060431", source="MONDO:equivalentTo", source="OMIM:613458", source="GARD:0010755"}
xref: SCTID:733473000 {source="MONDO:equivalentTo"}
xref: UMLS:C3150708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613458"}
xref: UMLS:C4518796 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000762 {source="DC-OMIM:613458", source="DOID:0060431"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016949 {source="MONDOLEX:0013273", source="Orphanet:96078"} ! partial duplication of the short arm of chromosome 16
property_value: exactMatch DOID:0060431
property_value: exactMatch http://identifiers.org/omim/613458
property_value: exactMatch http://identifiers.org/snomedct/733473000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518796
property_value: exactMatch Orphanet:96078
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication xsd:anyURI {source="GARD:0010755"}

[Term]
id: MONDO:0013274
name: retinitis pigmentosa 51
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 51" EXACT [MONDO:Lexical, OMIM:613464]
synonym: "retinitis pigmentosa 51; RP51" RELATED [OMIM:613464]
synonym: "retinitis pigmentosa caused by mutation in TTC8" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 51" EXACT [DOID:0110398, MONDORULE:2, OMIM:613464]
synonym: "RP51" EXACT [DOID:0110398, MONDO:Lexical, OMIM:613464]
synonym: "TTC8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110398 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110398"}
xref: OMIM:613464 {source="MONDO:equivalentTo", source="DOID:0110398"}
xref: UMLS:C3150715 {source="OMIM:613464", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613464", source="DOID:0110398", source="MONDO:Redundant", source="OMIM:613464"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110398
property_value: exactMatch http://identifiers.org/omim/613464
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150715

[Term]
id: MONDO:0013275
name: hemolytic anemia due to glucophosphate isomerase deficiency
def: "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." [Orphanet:712]
subset: gard_rare
subset: ordo_disease {source="Orphanet:712"}
synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502]
synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470]
xref: GARD:0002502 {source="MONDO:equivalentTo"}
xref: ICD10:D55.2 {source="Orphanet:712", source="ORDO:712/attributed", source="ORDO:712/ntbt"}
xref: OMIM:613470 {source="ORDO:712/e", source="Orphanet:712", source="MONDO:equivalentTo"}
xref: Orphanet:712 {source="MONDO:equivalentTo", source="OMIM:613470"}
xref: UMLS:C3150730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613470"}
xref: UMLS:CN072763 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006506 ! congenital nonspherocytic hemolytic anemia
is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:712"} ! disorder of glycolysis
is_a: MONDO:0020106 {source="Orphanet:712"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: exactMatch http://identifiers.org/omim/613470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072763
property_value: exactMatch Orphanet:712

[Term]
id: MONDO:0013276
name: Reynolds syndrome
def: "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms)." [Orphanet:779]
subset: gard_rare {source="GARD:0004697"}
subset: ordo_disease {source="Orphanet:779"}
synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:779]
synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471]
synonym: "Reynolds syndrome" EXACT [OMIM:613471]
xref: GARD:0004697 {source="MONDO:equivalentTo"}
xref: ICD10:K74.3 {source="Orphanet:779", source="ORDO:779/nd"}
xref: ICD10:L94.0 {source="Orphanet:779", source="ORDO:779/nd"}
xref: OMIM:613471 {source="ORDO:779/e", source="Orphanet:779", source="MONDO:equivalentTo"}
xref: Orphanet:779 {source="MONDO:equivalentTo", source="OMIM:613471"}
xref: SCTID:715401008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.47"}
xref: UMLS:C0748397 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613471"}
is_a: MONDO:0015939 {source="Orphanet:779"} ! systemic autoimmune disease
is_a: MONDO:0017368 {source="Orphanet:779"} ! systemic disease with skin involvement
is_a: MONDO:0019724 {source="Orphanet:779"} ! secondary glomerular disease
property_value: exactMatch http://identifiers.org/omim/613471
property_value: exactMatch http://identifiers.org/snomedct/715401008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0748397
property_value: exactMatch Orphanet:779
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome xsd:anyURI {source="GARD:0004697"}

[Term]
id: MONDO:0013277
name: epileptic encephalopathy, early infantile, 5
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern]
synonym: "EIEE5" RELATED [MONDO:Lexical, OMIM:613477]
synonym: "epileptic encephalopathy, early infantile, 5" EXACT [MONDO:Lexical, OMIM:613477]
synonym: "epileptic encephalopathy, early infantile, 5; EIEE5" RELATED [OMIM:613477]
synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1, OMIM:613477]
synonym: "SPTAN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613477 {source="MONDO:equivalentTo"}
xref: UMLS:C3150731 {source="OMIM:613477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/613477
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150731

[Term]
id: MONDO:0013278
name: lymphedema, hereditary, 1C
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GJC2 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary lymphedema caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "LMPH1C" RELATED [MONDO:Lexical, OMIM:613480]
synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical, OMIM:613480]
synonym: "lymphedema, hereditary, IC; LMPH1C" RELATED [OMIM:613480]
synonym: "lymphedema, hereditary, type 1C" EXACT [MONDORULE:4, OMIM:613480]
xref: DOID:0070208 {source="MONDO:equivalentTo"}
xref: OMIM:613480 {source="MONDO:equivalentTo"}
xref: UMLS:C3150732 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613480"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="MONDOLEX:0013278", source="OMIM:613480", source="ORDO:79452/btnt"} ! hereditary lymphedema
property_value: exactMatch DOID:0070208
property_value: exactMatch http://identifiers.org/omim/613480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150732

[Term]
id: MONDO:0013279
name: long QT syndrome 13
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485]
synonym: "long QT syndrome 13; LQT13" RELATED [OMIM:613485]
synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485]
synonym: "LQT13" EXACT [DOID:0110654, MONDO:Lexical, OMIM:613485]
xref: DOID:0110654 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110654"}
xref: OMIM:613485 {source="DOID:0110654", source="MONDO:equivalentTo"}
xref: UMLS:C3150733 {source="OMIM:613485", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:613485", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: exactMatch DOID:0110654
property_value: exactMatch http://identifiers.org/omim/613485
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150733

[Term]
id: MONDO:0013280
name: myxoid liposarcoma
alt_id: MONDO:0003597
def: "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." [NCIT:C27781]
synonym: "mixed-type liposarcoma" RELATED [DOID:5709]
synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, NCIT:C3735, OMIM:613488]
synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [DOID:5363]
synonym: "myxoid/round cell liposarcoma" EXACT [NCIT:C27781]
synonym: "Myxoliposarcoma" RELATED [GARD:0007157]
xref: DOID:5363 {source="MONDO:equivalentTo", source="EFO:0000613"}
xref: DOID:5709 {source="MONDO:equivalentTo"}
xref: EFO:0000613 {source="MONDO:equivalentTo"}
xref: GARD:0007157 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8852/3 {source="NCIT:C27781"}
xref: MESH:D018208 {source="MONDO:equivalentTo", source="EFO:0000613", source="MONDO:ontobio", source="DOID:5363"}
xref: NCIT:C27781 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5709"}
xref: OMIM:613488 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"}
xref: SCTID:404069006 {source="MONDO:equivalentTo", source="EFO:0000613", source="MONDO:kboom-pr-1.00/0.91/28.86", source="DOID:5363"}
is_a: MONDO:0020561 {source="MONDOLEX:0013280", source="ORDO:99967/btnt"} ! myxoid/round cell liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/27849002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0545074
property_value: exactMatch DOID:5363
property_value: exactMatch DOID:5709
property_value: exactMatch http://identifiers.org/mesh/D018208
property_value: exactMatch http://identifiers.org/omim/613488
property_value: exactMatch http://identifiers.org/snomedct/404069006
property_value: exactMatch NCIT:C27781

[Term]
id: MONDO:0013281
name: COG4-CDG
def: "COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." [Orphanet:263501]
subset: ordo_disease {source="Orphanet:263501"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [Orphanet:263501]
synonym: "CDG IIj" RELATED [OMIM:613489]
synonym: "CDG syndrome type IIj" EXACT [Orphanet:263501]
synonym: "CDG-IIj" EXACT [Orphanet:263501]
synonym: "CDG2J" EXACT [MONDO:Lexical, OMIM:613489, Orphanet:263501]
synonym: "COG4-CDG (CDG-IIj)" RELATED [GARD:0012412]
synonym: "congenital disorder of glycosylation type 2j" EXACT [Orphanet:263501]
synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501]
synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489]
synonym: "congenital disorder of glycosylation, type IIj; CDG2J" RELATED [OMIM:613489]
xref: DOID:0070262 {source="MONDO:equivalentTo"}
xref: GARD:0012412 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:263501/attributed", source="ORDO:263501/ntbt", source="Orphanet:263501"}
xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="ORDO:263501/e"}
xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"}
xref: SCTID:718751000 {source="MONDO:kboom-pr-1.00/0.79/8.21", source="MONDO:equivalentTo"}
xref: UMLS:C3150736 {source="NCBI:mim2gene_medline", source="OMIM:613489", source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:613489", source="MONDOLEX:0013281", source="OMIM:613489"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:263501"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018286 {source="Orphanet:263501"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:263501"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:263501"} ! congenital disorder of glycosylation with hepatic involvement
property_value: exactMatch DOID:0070262
property_value: exactMatch http://identifiers.org/omim/613489
property_value: exactMatch http://identifiers.org/snomedct/718751000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150736
property_value: exactMatch Orphanet:263501

[Term]
id: MONDO:0013282
name: alpha 1-antitrypsin deficiency
def: "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." [Orphanet:60]
subset: gard_rare {source="GARD:0005784"}
subset: ordo_disease {source="Orphanet:60"}
synonym: "A-1ATD" EXACT [NCIT:C84397]
synonym: "A1AD" EXACT [NCIT:C84397]
synonym: "A1AT deficiency" RELATED [GARD:0005784]
synonym: "A1ATD" RELATED [OMIM:613490]
synonym: "AAT deficiency" EXACT [DOID:13372, MTHICD9_2006:273.4]
synonym: "AATD" RELATED [GARD:0005784]
synonym: "Alpha 1 antitrypsin deficiency" RELATED [GARD:0005784]
synonym: "Alpha-1 antitrypsin deficiency" RELATED [GARD:0005784]
synonym: "alpha-1-antitrypsin deficiency" RELATED [OMIM:613490]
synonym: "ALPHA-1-antitrypsin deficiency; A1ATD" RELATED [OMIM:613490]
synonym: "deficiency in Alpa-1-proteinase inhibitor" EXACT [Orphanet:60]
xref: COHD:192275 {source="MONDO:equivalentTo"}
xref: DOID:13372 {source="MONDO:equivalentTo"}
xref: GARD:0005784 {source="MONDO:equivalentTo"}
xref: ICD10:E88.0 {source="ORDO:60/ntbt", source="ORDO:60/inclusion", source="Orphanet:60"}
xref: ICD10:E88.01 {source="DOID:13372", source="MONDO:equivalentTo"}
xref: ICD9:273.4 {source="DOID:13372", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10001806 {source="ORDO:60/e", source="Orphanet:60"}
xref: MESH:D019896 {source="DOID:13372", source="MONDO:equivalentTo", source="ORDO:60/e", source="Orphanet:60"}
xref: NCIT:C84397 {source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.29"}
xref: OMIM:613490 {source="DOID:13372", source="MONDO:equivalentTo", source="ORDO:60/e", source="Orphanet:60"}
xref: Orphanet:60 {source="MONDO:equivalentTo", source="OMIM:613490"}
xref: SCTID:30188007 {source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.19"}
xref: UMLS:C0221757 {source="NCBI:mim2gene_medline", source="DOID:13372", source="MONDO:equivalentTo", source="NCIT:C84397", source="ORDO:60/e", source="OMIM:613490", source="Orphanet:60"}
is_a: MONDO:0002254 {source="NCIT:C84397"} ! syndromic disease
is_a: MONDO:0002273 {source="DOID:13372"} ! plasma protein metabolism disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:60"} ! respiratory system disease
is_a: MONDO:0019602 {source="Orphanet:60"} ! other inborn metabolic disease
is_a: MONDO:0019743 {source="Orphanet:60"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/154771007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3501835
property_value: exactMatch DOID:13372
property_value: exactMatch http://identifiers.org/meddra/10001806
property_value: exactMatch http://identifiers.org/mesh/C531610
property_value: exactMatch http://identifiers.org/mesh/D019896
property_value: exactMatch http://identifiers.org/omim/613490
property_value: exactMatch http://identifiers.org/snomedct/30188007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221757
property_value: exactMatch NCIT:C84397
property_value: exactMatch Orphanet:60
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency xsd:anyURI {source="GARD:0005784"}

[Term]
id: MONDO:0013283
name: immunodeficiency, common variable, 3
synonym: "antibody deficiency due to CD19 defect" RELATED [OMIM:613493]
synonym: "CVID3" RELATED [MONDO:Lexical, OMIM:613493]
synonym: "immunodeficiency, common variable, 3" EXACT [MONDO:Lexical, OMIM:613493]
synonym: "immunodeficiency, common variable, 3; CVID3" RELATED [OMIM:613493]
synonym: "immunodeficiency, common variable, type 3" EXACT [MONDORULE:1, OMIM:613493]
xref: OMIM:613493 {source="MONDO:equivalentTo"}
xref: UMLS:C3150738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613493"}
is_a: MONDO:0015517 {source="DC-OMIM:613493", source="MONDOLEX:0013283", source="OMIM:613493"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/613493
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150738

[Term]
id: MONDO:0013284
name: immunodeficiency, common variable, 4
synonym: "antibody deficiency due to Baffr defect" RELATED [OMIM:613494]
synonym: "CVID4" RELATED [MONDO:Lexical, OMIM:613494]
synonym: "immunodeficiency, common variable, 4" EXACT [MONDO:Lexical, OMIM:613494]
synonym: "immunodeficiency, common variable, 4; CVID4" RELATED [OMIM:613494]
synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1, OMIM:613494]
xref: OMIM:613494 {source="MONDO:equivalentTo"}
xref: UMLS:C3150739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613494"}
is_a: MONDO:0015517 {source="DC-OMIM:613494", source="MONDOLEX:0013284", source="OMIM:613494"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/613494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150739

[Term]
id: MONDO:0013285
name: immunodeficiency, common variable, 5
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "antibody deficiency due to CD20 defect" RELATED [OMIM:613495]
synonym: "common variable immunodeficiency caused by mutation in MS4A1" EXACT [MONDO:design_pattern]
synonym: "CVID5" RELATED [MONDO:Lexical, OMIM:613495]
synonym: "immunodeficiency, common variable, 5" EXACT [MONDO:Lexical, OMIM:613495]
synonym: "immunodeficiency, common variable, 5; CVID5" RELATED [OMIM:613495]
synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1, OMIM:613495]
synonym: "MS4A1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613495 {source="MONDO:equivalentTo"}
xref: UMLS:C3150740 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613495"}
is_a: MONDO:0015517 {source="DC-OMIM:613495", source="MONDO:Redundant", source="MONDOLEX:0013285", source="OMIM:613495"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/613495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150740

[Term]
id: MONDO:0013286
name: immunodeficiency, common variable, 6
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496]
synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern]
synonym: "CVID6" RELATED [MONDO:Lexical, OMIM:613496]
synonym: "immunodeficiency, common variable, 6" EXACT [MONDO:Lexical, OMIM:613496]
synonym: "immunodeficiency, common variable, 6; CVID6" RELATED [OMIM:613496]
synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1, OMIM:613496]
xref: OMIM:613496 {source="MONDO:equivalentTo"}
xref: UMLS:C3150741 {source="OMIM:613496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:613496", source="MONDO:Redundant", source="MONDOLEX:0013286", source="OMIM:613496"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/613496
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150741

[Term]
id: MONDO:0013287
name: agammaglobulinemia 2, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613500]
synonym: "agammaglobulinemia 2, autosomal recessive; AGM2" RELATED [OMIM:613500]
synonym: "agammaglobulinemia, autosomal recessive, due to Igll1 defect" RELATED [OMIM:613500]
synonym: "AGM2" RELATED [MONDO:Lexical, OMIM:613500]
synonym: "autosomal agammaglobulinemia caused by mutation in IGLL1" EXACT [MONDO:design_pattern]
synonym: "IGLL1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613500 {source="MONDO:equivalentTo"}
xref: UMLS:C3150750 {source="NCBI:mim2gene_medline", source="OMIM:613500", source="MONDO:equivalentTo"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/613500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150750

[Term]
id: MONDO:0013288
name: agammaglobulinemia 3, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613501]
synonym: "agammaglobulinemia 3, autosomal recessive; AGM3" RELATED [OMIM:613501]
synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [OMIM:613501]
synonym: "AGM3" RELATED [MONDO:Lexical, OMIM:613501]
synonym: "autosomal agammaglobulinemia caused by mutation in CD79A" EXACT [MONDO:design_pattern]
synonym: "CD79A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613501 {source="MONDO:equivalentTo"}
xref: UMLS:C3150751 {source="OMIM:613501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/613501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150751

[Term]
id: MONDO:0013289
name: agammaglobulinemia 4, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613502]
synonym: "agammaglobulinemia 4, autosomal recessive; AGM4" RELATED [OMIM:613502]
synonym: "agammaglobulinemia, autosomal recessive, due to Blnk defect" RELATED [OMIM:613502]
synonym: "AGM4" RELATED [MONDO:Lexical, OMIM:613502]
synonym: "autosomal agammaglobulinemia caused by mutation in BLNK" EXACT [MONDO:design_pattern]
synonym: "BLNK autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613502 {source="MONDO:equivalentTo"}
xref: UMLS:C3150752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613502"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/613502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150752

[Term]
id: MONDO:0013290
name: agammaglobulinemia 5, autosomal dominant
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613506]
synonym: "agammaglobulinemia 5, autosomal dominant; AGM5" RELATED [OMIM:613506]
synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [OMIM:613506]
synonym: "AGM5" RELATED [MONDO:Lexical, OMIM:613506]
synonym: "autosomal agammaglobulinemia caused by mutation in LRRC8A" EXACT [MONDO:design_pattern]
synonym: "LRRC8A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613506 {source="MONDO:equivalentTo"}
xref: UMLS:C3150753 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613506"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/613506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150753

[Term]
id: MONDO:0013291
name: glycogen storage disease XV
def: "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." [Orphanet:263297]
subset: ordo_disease {source="Orphanet:263297"}
synonym: "glycogen storage disease 15" RELATED [OMIM:613507]
synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, OMIM:613507, Orphanet:263297]
synonym: "glycogen storage disease type XV" EXACT [DOID:0050579, MONDORULE:3, Orphanet:263297]
synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" RELATED [Orphanet:263297]
synonym: "glycogen storage disease XV" EXACT [MONDO:Lexical, OMIM:613507]
synonym: "glycogen storage disease XV; GSD15" RELATED [OMIM:613507]
synonym: "glycogenin deficiency" RELATED [OMIM:613507]
synonym: "glycogenosis type 15" EXACT [Orphanet:263297]
synonym: "glycogenosis type XV" EXACT [Orphanet:263297]
synonym: "glycogenosis with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297]
synonym: "GSD 15" RELATED [OMIM:613507]
synonym: "GSD type 15" EXACT [Orphanet:263297]
synonym: "GSD type XV" EXACT [Orphanet:263297]
synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297]
synonym: "GSD15" RELATED [MONDO:Lexical, OMIM:613507]
synonym: "Gyg1 deficiency" RELATED [OMIM:613507]
xref: DOID:0050579 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:263297", source="ORDO:263297/attributed", source="ORDO:263297/ntbt"}
xref: OMIM:613507 {source="Orphanet:263297", source="ORDO:263297/e", source="DOID:0050579", source="MONDO:equivalentTo"}
xref: Orphanet:263297 {source="MONDO:equivalentTo", source="OMIM:613507"}
xref: SCTID:717821004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C3150754 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613507"}
is_a: MONDO:0002412 {source="DC-OMIM:613507", source="DOID:0050579", source="DOID:0050579/inferred", source="OMIM:613507", source="Orphanet:263297", source="linkedlifedata"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:263297"} ! muscular glycogenosis
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0050579
property_value: exactMatch http://identifiers.org/omim/613507
property_value: exactMatch http://identifiers.org/snomedct/717821004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150754
property_value: exactMatch Orphanet:263297

[Term]
id: MONDO:0013292
name: chromosome 4q21 deletion syndrome
def: "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." [Orphanet:238750]
subset: ordo_malformation_syndrome {source="Orphanet:238750"}
synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420]
synonym: "chromosome 4q21 deletion syndrome" EXACT [OMIM:613509]
synonym: "Del(4)(q21)" EXACT [Orphanet:238750]
synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750]
xref: DOID:0060420 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:238750", source="ORDO:238750/attributed", source="ORDO:238750/ntbt"}
xref: OMIM:613509 {source="DOID:0060420", source="MONDO:equivalentTo", source="Orphanet:238750", source="ORDO:238750/e"}
xref: Orphanet:238750 {source="DOID:0060420", source="MONDO:equivalentTo", source="OMIM:613509"}
xref: SCTID:719660008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05"}
xref: UMLS:C3150756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613509"}
xref: UMLS:C4304530 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613509", source="DOID:0060420"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016903 {source="MONDOLEX:0013292", source="Orphanet:238750"} ! partial deletion of the long arm of chromosome 4
property_value: exactMatch DOID:0060420
property_value: exactMatch http://identifiers.org/omim/613509
property_value: exactMatch http://identifiers.org/snomedct/719660008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304530
property_value: exactMatch Orphanet:238750

[Term]
id: MONDO:0013293
name: isolated microphthalmia 6
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in PRSS56" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 6" EXACT [DOID:0060835, MONDORULE:1]
synonym: "MCOP6" EXACT [DOID:0060835, MONDO:Lexical, OMIM:613517]
synonym: "microphthalmia, isolated 6" RELATED [MONDO:Lexical, OMIM:613517]
synonym: "microphthalmia, isolated 6; MCOP6" RELATED [OMIM:613517]
synonym: "microphthalmia, isolated type 6" EXACT [MONDORULE:1, OMIM:613517]
synonym: "microphthalmia, posterior nonsyndromic" RELATED [OMIM:613517]
synonym: "posterior nonsyndromic microphthalmia" EXACT [DOID:0060835]
synonym: "PRSS56 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060835 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060835"}
xref: OMIM:613517 {source="MONDO:equivalentTo", source="DOID:0060835"}
xref: UMLS:C3150757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613517"}
is_a: MONDO:0000062 {source="DC-OMIM:613517", source="MONDO:Redundant", source="MONDOLEX:0013293", source="OMIM:613517"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060835
property_value: exactMatch http://identifiers.org/omim/613517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150757

[Term]
id: MONDO:0013294
name: atopic dermatitis 8
def: "An atopic dermatitis associated with variation in the region 4q22.1." [DOID:0110104, PMID:19517137]
synonym: "ATOD8" EXACT [DOID:0110104, MONDO:Lexical, OMIM:613518]
synonym: "atopic dermatitis type 8" EXACT [DOID:0110104, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 8" RELATED [MONDO:Lexical, OMIM:613518]
synonym: "dermatitis, ATOPIC, 8; ATOD8" RELATED [OMIM:613518]
synonym: "dermatitis, Atopic, severity of" RELATED [OMIM:613518]
xref: DOID:0110104 {source="MONDO:equivalentTo"}
xref: OMIM:613518 {source="DOID:0110104", source="MONDO:equivalentTo"}
xref: UMLS:C3150763 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613518"}
is_a: MONDO:0004980 {source="DC-OMIM:613518", source="DOID:0110104", source="MONDOLEX:0013294", source="OMIM:613518"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110104
property_value: exactMatch http://identifiers.org/omim/613518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150763

[Term]
id: MONDO:0013295
name: atopic dermatitis 9
def: "An atopic dermatitis associated with variation in the region 3p24." [DOID:0110105, PMID:19517137]
synonym: "ATOD9" EXACT [DOID:0110105, MONDO:Lexical, OMIM:613519]
synonym: "atopic dermatitis type 9" EXACT [DOID:0110105, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 9" RELATED [MONDO:Lexical, OMIM:613519]
synonym: "dermatitis, ATOPIC, 9; ATOD9" RELATED [OMIM:613519]
xref: DOID:0110105 {source="MONDO:equivalentTo"}
xref: OMIM:613519 {source="DOID:0110105", source="MONDO:equivalentTo"}
xref: UMLS:C3150764 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613519"}
is_a: MONDO:0004980 {source="DC-OMIM:613519", source="DOID:0110105", source="MONDOLEX:0013295", source="OMIM:613519"} ! atopic eczema
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0110105
property_value: exactMatch http://identifiers.org/omim/613519
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150764

[Term]
id: MONDO:0013296
name: myeloid neoplasm associated with FGFR1 rearrangement
def: "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." [NCIT:C84277]
subset: ordo_disease {source="Orphanet:168953"}
synonym: "8p11 myeloproliferative syndrome" EXACT [NCIT:C84277, Orphanet:168953]
synonym: "8p11 stem cell leukemia/lymphoma syndrome" EXACT [NCIT:C84277]
synonym: "8p11 stem cell lymphoma/leukemia syndrome" EXACT [NCIT:C84277]
synonym: "8p11 stem cell syndrome" EXACT [NCIT:C84277]
synonym: "chromosome 8p11 myeloproliferative syndrome" RELATED [OMIM:613523]
synonym: "myeloid and lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277]
synonym: "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" RELATED [Orphanet:168953]
synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277]
synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" RELATED [NCIT:C84277]
synonym: "stem cell leukemia/lymphoma" EXACT [OMIM:613523, Orphanet:168953]
xref: ICD10:D47.1 {source="ORDO:168953/ntbt", source="Orphanet:168953"}
xref: ICDO:9967/3 {source="NCIT:C84277"}
xref: NCIT:C84277 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:613523 {source="ORDO:168953/e", source="MONDO:equivalentTo", source="Orphanet:168953"}
xref: ONCOTREE:MLNFGFR1 {source="MONDO:equivalentTo"}
xref: Orphanet:168953 {source="OMIM:613523", source="MONDO:equivalentTo"}
xref: UMLS:C2827362 {source="MONDO:equivalentTo", source="NCIT:C84277", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:C3150773 {source="OMIM:613523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000881 {source="NCIT:C84277"} ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
is_a: MONDO:0015688 {source="Orphanet:168953"} ! myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
property_value: exactMatch http://identifiers.org/omim/613523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2827362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150773
property_value: exactMatch NCIT:C84277
property_value: exactMatch Orphanet:168953

[Term]
id: MONDO:0013297
name: autosomal dominant limb-girdle muscular dystrophy type 1H
def: "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." [Orphanet:238755]
subset: ordo_disease {source="Orphanet:238755"}
synonym: "LGMD1H" EXACT [DOID:0110303, MONDO:Lexical, OMIM:613530, Orphanet:238755]
synonym: "limb-girdle muscular dystrophy type 1H" RELATED [GARD:0012532]
synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303]
synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530]
synonym: "muscular dystrophy, limb-girdle, type 1H; LGMD1H" RELATED [OMIM:613530]
xref: DOID:0110303 {source="MONDO:equivalentTo"}
xref: GARD:0012532 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="DOID:0110303", source="MONDO:subClassOf", source="Orphanet:238755", source="ORDO:238755/attributed", source="ORDO:238755/ntbt"}
xref: OMIM:613530 {source="DOID:0110303", source="ORDO:238755/e", source="Orphanet:238755", source="MONDO:equivalentTo"}
xref: Orphanet:238755 {source="DOID:0110303", source="OMIM:613530", source="MONDO:equivalentTo"}
xref: UMLS:C3150786 {source="OMIM:613530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015151 {source="DOID:0110303", source="MONDOLEX:0013297", source="OMIM:613530", source="Orphanet:238755"} ! autosomal dominant limb-girdle muscular dystrophy
property_value: exactMatch DOID:0110303
property_value: exactMatch http://identifiers.org/omim/613530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150786
property_value: exactMatch Orphanet:238755

[Term]
id: MONDO:0013298
name: chromosome 17q21.31 duplication syndrome
def: "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." [Orphanet:217340]
subset: ordo_malformation_syndrome {source="Orphanet:217340"}
synonym: "17q21.31 microduplication syndrome" EXACT [DOID:0060434, Orphanet:217340]
synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533]
synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340]
synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340]
xref: DOID:0060434 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:217340/attributed", source="ORDO:217340/ntbt", source="DOID:0060434", source="Orphanet:217340"}
xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="ORDO:217340/e"}
xref: Orphanet:217340 {source="OMIM:613533", source="MONDO:equivalentTo", source="DOID:0060434"}
xref: SCTID:716683005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150787 {source="NCBI:mim2gene_medline", source="OMIM:613533", source="MONDO:equivalentTo"}
xref: UMLS:C4274345 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:217340"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DC-OMIM:613533", source="DOID:0060434"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:217340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016967 {source="MONDOLEX:0013298", source="Orphanet:217340"} ! partial duplication of the long arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060434
property_value: exactMatch http://identifiers.org/omim/613533
property_value: exactMatch http://identifiers.org/snomedct/716683005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274345
property_value: exactMatch Orphanet:217340

[Term]
id: MONDO:0013299
name: chromosome 6q11-q14 deletion syndrome
synonym: "chromosome 6q11-q14 deletion syndrome" EXACT [OMIM:613544]
synonym: "chromosome 6Q13-q14 deletion syndrome" RELATED [OMIM:613544]
xref: DOID:0060423 {source="MONDO:equivalentTo"}
xref: OMIM:613544 {source="MONDO:equivalentTo", source="DOID:0060423"}
xref: UMLS:C3150790 {source="NCBI:mim2gene_medline", source="OMIM:613544", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613544", source="DOID:0060423"} ! syndrome caused by partial chromosomal deletion
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150791
property_value: exactMatch DOID:0060423
property_value: exactMatch http://identifiers.org/omim/613544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150790

[Term]
id: MONDO:0013300
name: commissural facial cleft
def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265]
subset: ordo_morphological_anomaly {source="Orphanet:141276"}
synonym: "commissural cleft, isolated" RELATED [OMIM:613545]
synonym: "lateral cleft, isolated" RELATED [OMIM:613545]
synonym: "macrostomia" EXACT [Orphanet:141276]
synonym: "macrostomia, isolated" RELATED [OMIM:613545]
synonym: "transverse cleft, isolated" RELATED [OMIM:613545]
xref: ICD10:Q18.4 {source="Orphanet:141276", source="ORDO:141276/attributed", source="ORDO:141276/ntbt"}
xref: ICD9:744.83 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008265 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613545 {source="Orphanet:141276", source="ORDO:141276/e", source="MONDO:equivalentTo"}
xref: Orphanet:141276 {source="OMIM:613545", source="MONDO:equivalentTo"}
xref: SCTID:40159009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.03"}
is_a: MONDO:0015418 {source="Orphanet:141276"} ! lateral facial cleft
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024433
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150792
property_value: exactMatch http://identifiers.org/mesh/D008265
property_value: exactMatch http://identifiers.org/omim/613545
property_value: exactMatch http://identifiers.org/snomedct/40159009
property_value: exactMatch Orphanet:141276

[Term]
id: MONDO:0013301
name: aromatase deficiency
def: "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." [Orphanet:91]
subset: gard_rare {source="GARD:0000365"}
subset: ordo_disease {source="Orphanet:91"}
synonym: "aromatase deficiency" EXACT [OMIM:613546]
synonym: "congenital estrogen deficiency" EXACT [Orphanet:91]
synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546]
xref: GARD:0000365 {source="MONDO:equivalentTo"}
xref: ICD10:E25.8 {source="ORDO:91/attributed", source="ORDO:91/ntbt", source="Orphanet:91"}
xref: MESH:C537436 {source="MONDO:equivalentTo", source="ORDO:91/e", source="MONDO:ontobio", source="Orphanet:91"}
xref: OMIM:613546 {source="MONDO:equivalentTo", source="ORDO:91/e", source="Orphanet:91"}
xref: Orphanet:91 {source="MONDO:equivalentTo", source="OMIM:613546"}
xref: UMLS:C1960539 {source="MONDO:equivalentTo", source="OMIM:613546", source="Orphanet:91"}
is_a: MONDO:0017962 {source="Orphanet:91"} ! 46,XX disorder of sex development induced by fetoplacental androgens excess
is_a: MONDO:0018405 {source="MONDO:Redundant", source="Orphanet:91"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:91"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0019852 {source="Orphanet:91"} ! inherited primary ovarian failure
is_a: MONDO:0024575 {source="Orphanet:91"} ! pregnancy disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0853662
property_value: exactMatch http://identifiers.org/mesh/C537436
property_value: exactMatch http://identifiers.org/omim/613546
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960539
property_value: exactMatch Orphanet:91
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency xsd:anyURI {source="GARD:0000365"}

[Term]
id: MONDO:0013302
name: nephronophthisis 11
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." [DOID:0111118, PMID:19508969]
synonym: "nephronophthisis 11" EXACT [MONDO:Lexical, OMIM:613550]
synonym: "nephronophthisis 11; NPHP11" RELATED [OMIM:613550]
synonym: "nephronophthisis type 11" EXACT [DOID:0111118, MONDORULE:2, OMIM:613550]
synonym: "NPHP11" EXACT [DOID:0111118, MONDO:Lexical, OMIM:613550]
xref: DOID:0111118 {source="MONDO:equivalentTo"}
xref: OMIM:613550 {source="DOID:0111118", source="MONDO:equivalentTo"}
xref: UMLS:C3150796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613550"}
is_a: MONDO:0019005 {source="DC-OMIM:613550", source="DOID:0111118", source="MONDO:Redundant", source="OMIM:613550"} ! nephronophthisis (disease)
is_a: MONDO:0019394 {source="MONDO:Redundant", source="ORDO:84081/btnt"} ! Senior-Boichis syndrome
property_value: exactMatch DOID:0111118
property_value: exactMatch http://identifiers.org/omim/613550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150796

[Term]
id: MONDO:0013303
name: autoimmune disease, susceptibility to, 6
def: "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AIS6" RELATED [MONDO:Lexical, OMIM:613551]
synonym: "autoimmune disease caused by mutation in SIAE" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613551]
synonym: "autoimmune disease, susceptibility to, 6; AIS6" RELATED [OMIM:613551]
synonym: "autoimmune disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613551]
synonym: "SIAE autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to autoimmune disease 6" RELATED [OMIM:613551]
xref: OMIM:613551 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150797
property_value: exactMatch http://identifiers.org/omim/613551

[Term]
id: MONDO:0013304
name: von Willebrand disease 2
def: "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166081]
subset: ordo_clinical_subtype {source="Orphanet:166081"}
synonym: "von Willebrand disease type 2" EXACT [DOID:0060574]
synonym: "von Willebrand disease type II" EXACT [DOID:0060574]
synonym: "VON WILLEBRAND disease, type 2" RELATED [MONDO:Lexical, OMIM:613554]
synonym: "Von Willebrand disease, type 2" RELATED [OMIM:613554]
synonym: "VON WILLEBRAND disease, type 2; VWD2" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2A" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2B" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2M" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2N" RELATED [OMIM:613554]
synonym: "von willebrand's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 2" EXACT [DOID:0060574, MONDORULE:1]
synonym: "VWD type 2" EXACT [DOID:0060574]
synonym: "VWD, type 2" RELATED [OMIM:613554]
synonym: "VWD2" EXACT [DOID:0060574, MONDO:Lexical, OMIM:613554]
xref: DOID:0060574 {source="MONDO:equivalentTo"}
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="ORDO:166081/attributed", source="ORDO:166081/ntbt", source="Orphanet:166081"}
xref: MESH:D056728 {source="DOID:0060574", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"}
xref: OMIM:613554 {source="DOID:0060574", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"}
xref: Orphanet:166081 {source="DOID:0060574", source="OMIM:613554", source="MONDO:equivalentTo"}
xref: SCTID:128107007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.12"}
xref: UMLS:C1264040 {source="DOID:0060574", source="MEDGEN:kboom-pr98-c99", source="OMIM:613554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"}
is_a: MONDO:0019565 {source="DC-OMIM:613554", source="DOID:0060574", source="MONDOLEX:0013304", source="Orphanet:166081", source="linkedlifedata"} ! hereditary von Willebrand disease
property_value: exactMatch DOID:0060574
property_value: exactMatch http://identifiers.org/mesh/D056728
property_value: exactMatch http://identifiers.org/omim/613554
property_value: exactMatch http://identifiers.org/snomedct/128107007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264040
property_value: exactMatch Orphanet:166081

[Term]
id: MONDO:0013305
name: autosomal dominant nonsyndromic deafness 51
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." [DOID:0110577, PMID:20602916]
synonym: "autosomal dominant deafness 51" EXACT [DOID:0110577]
synonym: "autosomal dominant nonsyndromic deafness type 51" EXACT [DOID:0110577, MONDORULE:2]
synonym: "chromosome 9Q21.11 Duplication syndrome" RELATED [OMIM:613558]
synonym: "chromosome 9q21.11 duplication syndrome" EXACT [DOID:0110577]
synonym: "deafness, autosomal dominant 51" RELATED [MONDO:Lexical, OMIM:613558]
synonym: "deafness, autosomal dominant 51; DFNA51" RELATED [OMIM:613558]
synonym: "deafness, autosomal dominant type 51" EXACT [MONDORULE:2, OMIM:613558]
synonym: "DFNA51" EXACT [DOID:0110577, MONDO:Lexical, OMIM:613558]
xref: DOID:0110577 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110577"}
xref: OMIM:613558 {source="DOID:0110577", source="MONDO:equivalentTo"}
xref: UMLS:C3160736 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613558"}
is_a: MONDO:0019587 {source="DC-OMIM:613558", source="DOID:0110577", source="OMIM:613558"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110577
property_value: exactMatch http://identifiers.org/omim/613558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160736

[Term]
id: MONDO:0013306
name: combined oxidative phosphorylation defect type 7
def: "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." [Orphanet:254930]
subset: ordo_disease {source="Orphanet:254930"}
synonym: "C12ORF65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern]
synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical, OMIM:613559]
synonym: "combined oxidative phosphorylation deficiency 7; COXPD7" RELATED [OMIM:613559]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" EXACT []
synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1, OMIM:613559]
synonym: "COXPD7" EXACT [MONDO:Lexical, OMIM:613559, Orphanet:254930]
synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930]
synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930]
xref: ICD10:G31.8 {source="ORDO:254930/attributed", source="ORDO:254930/ntbt", source="Orphanet:254930"}
xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="ORDO:254930/e"}
xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"}
xref: SCTID:763204003 {source="MONDO:equivalentTo"}
xref: UMLS:C3150801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613559"}
is_a: MONDO:0000732 {source="DC-OMIM:613559", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0044655 ! c12orf65-related combined oxidative phosphorylation defect
property_value: exactMatch http://identifiers.org/omim/613559
property_value: exactMatch http://identifiers.org/snomedct/763204003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150801
property_value: exactMatch Orphanet:254930

[Term]
id: MONDO:0013307
name: myopathy, lactic acidosis, and sideroblastic anemia 2
def: "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern]
synonym: "MLASA2" RELATED [MONDO:Lexical, OMIM:613561]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [MONDO:Lexical, OMIM:613561]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2" RELATED [OMIM:613561]
synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1, OMIM:613561]
synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613561 {source="MONDO:equivalentTo"}
xref: UMLS:C3150802 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613561"}
is_a: MONDO:0000863 {source="MONDO:Redundant", source="MONDOLEX:0013307", source="ORDO:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia
property_value: exactMatch http://identifiers.org/omim/613561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150802

[Term]
id: MONDO:0013308
name: CBL-related disorder
def: "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." [PMID:20619386, PMID:21901340, PMID:24458550, PMID:25283271, PMID:25358541, PMID:25952305, PMID:26911351, PMID:28343148, PMID:28414188, PMID:28589114, PMID:29259247]
subset: ordo_malformation_syndrome {source="Orphanet:363972"}
synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563]
synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972]
synonym: "Noonan syndrome-like disorder with JMML" EXACT [Orphanet:363972]
synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT []
synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563]
synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NSLL" RELATED [OMIM:613563]
synonym: "Noonan-like syndrome" EXACT []
synonym: "NSLL" RELATED [MONDO:Lexical, OMIM:613563]
xref: ICD10:Q87.1 {source="ORDO:363972/attributed", source="ORDO:363972/ntbt", source="Orphanet:363972"}
xref: OMIM:613563 {source="ORDO:363972/e", source="MONDO:equivalentTo", source="Orphanet:363972"}
xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"}
xref: UMLS:C3150803 {source="OMIM:613563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4016301 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015945 {source="Orphanet:363972"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0021060 {source="ClinGen:RASopathyExpertPanel"} ! RASopathy
property_value: exactMatch http://identifiers.org/omim/613563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4016301
property_value: exactMatch Orphanet:363972

[Term]
id: MONDO:0013309
name: chromosome 2p12-p11.2 deletion syndrome
synonym: "chromosome 2p12-p11.2 deletion syndrome" EXACT [OMIM:613564]
xref: DOID:0060414 {source="MONDO:equivalentTo"}
xref: OMIM:613564 {source="MONDO:equivalentTo", source="DOID:0060414"}
xref: UMLS:C3150804 {source="OMIM:613564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613564", source="DOID:0060414"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch DOID:0060414
property_value: exactMatch http://identifiers.org/omim/613564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150804

[Term]
id: MONDO:0013310
name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
def: "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." [Orphanet:95699]
subset: gard_rare {source="GARD:0012664"}
subset: ordo_disease {source="Orphanet:95699"}
synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571]
synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [Orphanet:95699]
synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase" RELATED [GARD:0012664]
synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571]
synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571]
synonym: "POR deficiency" EXACT [Orphanet:95699]
synonym: "PORD" EXACT [Orphanet:95699]
xref: GARD:0012664 {source="MONDO:equivalentTo"}
xref: ICD10:E25.0 {source="Orphanet:95699", source="ORDO:95699/attributed", source="ORDO:95699/ntbt"}
xref: OMIM:613571 {source="ORDO:95699/e", source="MONDO:equivalentTo", source="Orphanet:95699"}
xref: Orphanet:95699 {source="MONDO:equivalentTo", source="OMIM:613571"}
xref: SCTID:715733000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018479 {source="MONDOLEX:0013310", source="Orphanet:95699", source="linkedlifedata"} ! congenital adrenal hyperplasia
is_a: MONDO:0019593 {source="Orphanet:95699"} ! 46,XX disorder of sex development induced by fetal androgens excess
is_a: MONDO:0019595 {source="Orphanet:95699"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860042
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673964
property_value: exactMatch http://identifiers.org/omim/613571
property_value: exactMatch http://identifiers.org/snomedct/715733000
property_value: exactMatch Orphanet:95699
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency xsd:anyURI {source="GARD:0012664"}

[Term]
id: MONDO:0013311
name: ectodermal dysplasia-syndactyly syndrome
def: "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." [Orphanet:247820]
subset: ordo_malformation_syndrome {source="Orphanet:247820"}
subset: prototype_pattern
synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OMIM:613573]
synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573]
synonym: "EDSS" EXACT [Orphanet:247820]
synonym: "EDSS1" EXACT [Orphanet:247820]
synonym: "EDSS1" RELATED [MONDO:Lexical, OMIM:613573]
xref: DC:0000645 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:247820", source="ORDO:247820/attributed", source="ORDO:247820/ntbt"}
xref: OMIMPS:613573 {source="MONDO:equivalentTo", source="DC:0000645"}
xref: Orphanet:247820 {source="OMIM:613573", source="MONDO:equivalentTo"}
xref: UMLS:CN228599 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:247820"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019287 {source="MONDOLEX:0013311", source="OMIM:613573", source="Orphanet:247820"} ! ectodermal dysplasia syndrome
is_a: MONDO:0021002 ! syndactyly (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228599
property_value: exactMatch Orphanet:247820

[Term]
id: MONDO:0013312
name: retinitis pigmentosa 55
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARL6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 55" EXACT [MONDO:Lexical, OMIM:613575]
synonym: "retinitis pigmentosa 55; RP55" RELATED [OMIM:613575]
synonym: "retinitis pigmentosa caused by mutation in ARL6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 55" EXACT [DOID:0110370, MONDORULE:2, OMIM:613575]
synonym: "RP55" EXACT [DOID:0110370, MONDO:Lexical, OMIM:613575]
xref: DOID:0110370 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110370"}
xref: OMIM:613575 {source="DOID:0110370", source="MONDO:equivalentTo"}
xref: UMLS:C3150808 {source="OMIM:613575", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613575", source="DOID:0110370", source="MONDO:Redundant", source="OMIM:613575"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110370
property_value: exactMatch http://identifiers.org/omim/613575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150808

[Term]
id: MONDO:0013313
name: ectodermal dysplasia-cutaneous syndactyly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:247827"}
synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576]
synonym: "ectodermal dysplasia-syndactyly syndrome 2; EDSS2" RELATED [OMIM:613576]
synonym: "EDCS" EXACT [Orphanet:247827]
synonym: "EDSS2" EXACT [MONDO:Lexical, OMIM:613576, Orphanet:247827]
xref: ICD10:Q82.8 {source="ORDO:247827/attributed", source="ORDO:247827/ntbt", source="Orphanet:247827"}
xref: OMIM:613576 {source="MONDO:equivalentTo", source="ORDO:247827/e", source="Orphanet:247827"}
xref: Orphanet:247827 {source="OMIM:613576", source="MONDO:equivalentTo"}
xref: UMLS:C3150809 {source="OMIM:613576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013311 {source="DC-OMIM:613576", source="MONDOLEX:0013313", source="OMIM:613576"} ! ectodermal dysplasia-syndactyly syndrome
property_value: exactMatch http://identifiers.org/omim/613576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150809
property_value: exactMatch Orphanet:247827

[Term]
id: MONDO:0013314
name: retinitis pigmentosa 56
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMPG2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "maculopathy, Impg2-related" RELATED [OMIM:613581]
synonym: "retinitis pigmentosa 56" EXACT [MONDO:Lexical, OMIM:613581]
synonym: "retinitis pigmentosa 56; RP56" RELATED [OMIM:613581]
synonym: "retinitis pigmentosa caused by mutation in IMPG2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 56" EXACT [DOID:0110371, MONDORULE:2, OMIM:613581]
synonym: "RP56" EXACT [DOID:0110371, MONDO:Lexical, OMIM:613581]
xref: DOID:0110371 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110371"}
xref: OMIM:613581 {source="MONDO:equivalentTo", source="DOID:0110371"}
xref: UMLS:C3150819 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613581"}
is_a: MONDO:0019200 {source="DC-OMIM:613581", source="DOID:0110371", source="MONDO:Redundant", source="OMIM:613581"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150820
property_value: exactMatch DOID:0110371
property_value: exactMatch http://identifiers.org/omim/613581
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150819

[Term]
id: MONDO:0013315
name: retinitis pigmentosa 57
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PDE6G retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 57" EXACT [MONDO:Lexical, OMIM:613582]
synonym: "retinitis pigmentosa 57; RP57" RELATED [OMIM:613582]
synonym: "retinitis pigmentosa caused by mutation in PDE6G" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 57" EXACT [DOID:0110407, MONDORULE:2, OMIM:613582]
synonym: "RP57" EXACT [DOID:0110407, MONDO:Lexical, OMIM:613582]
xref: DOID:0110407 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110407"}
xref: OMIM:613582 {source="MONDO:equivalentTo", source="DOID:0110407"}
xref: UMLS:C3150821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613582"}
is_a: MONDO:0019200 {source="DC-OMIM:613582", source="DOID:0110407", source="MONDO:Redundant", source="OMIM:613582"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110407
property_value: exactMatch http://identifiers.org/omim/613582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150821

[Term]
id: MONDO:0013316
name: occult macular dystrophy
def: "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." [Orphanet:247834]
subset: ordo_disease {source="Orphanet:247834"}
synonym: "occult macular dystrophy" EXACT [MONDO:Lexical, OMIM:613587]
synonym: "occult macular dystrophy; OCMD" RELATED [OMIM:613587]
synonym: "OCMD" EXACT [MONDO:Lexical, OMIM:613587, Orphanet:247834]
synonym: "OMD" EXACT [Orphanet:247834]
synonym: "Omd" RELATED [OMIM:613587]
xref: DOID:0050578 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:247834/attributed", source="ORDO:247834/ntbt", source="Orphanet:247834"}
xref: OMIM:613587 {source="ORDO:247834/e", source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834"}
xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"}
xref: UMLS:C3150833 {source="OMIM:613587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003004 {source="DOID:0050578", source="OMIM:613587"} ! macular degeneration
is_a: MONDO:0020242 {source="Orphanet:247834"} ! genetic macular dystrophy
property_value: exactMatch DOID:0050578
property_value: exactMatch http://identifiers.org/omim/613587
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150833
property_value: exactMatch Orphanet:247834

[Term]
id: MONDO:0013317
name: torsade-de-pointes syndrome with short coupling interval
def: "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." [Orphanet:51084]
subset: ordo_disease {source="Orphanet:51084"}
synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600]
xref: ICD10:I49.8 {source="ORDO:51084/attributed", source="ORDO:51084/ntbt", source="Orphanet:51084"}
xref: OMIM:613600 {source="MONDO:equivalentTo", source="ORDO:51084/e", source="Orphanet:51084"}
xref: Orphanet:51084 {source="OMIM:613600", source="MONDO:equivalentTo"}
xref: SCTID:718104007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
xref: UMLS:C3150851 {source="OMIM:613600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:51084"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/omim/613600
property_value: exactMatch http://identifiers.org/snomedct/718104007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150851
property_value: exactMatch Orphanet:51084

[Term]
id: MONDO:0013318
name: early repolarization associated with ventricular fibrillation
synonym: "early repolarization associated with ventricular fibrillation" EXACT [OMIM:613601]
synonym: "early repolarization syndrome" RELATED [OMIM:613601]
xref: OMIM:613601 {source="MONDO:equivalentTo"}
xref: UMLS:C3150852 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613601"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150852

[Term]
id: MONDO:0013319
name: chromosome 4Q32.1-q32.2 triplication syndrome
synonym: "chromosome 4Q32.1-q32.2 triplication syndrome" EXACT [OMIM:613603]
xref: OMIM:613603 {source="MONDO:equivalentTo"}
xref: UMLS:C3150857 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613603"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150857

[Term]
id: MONDO:0013320
name: chromosome 16p12.2-p11.2 deletion syndrome
def: "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261211]
subset: ordo_malformation_syndrome {source="Orphanet:261211"}
synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DOID:0060400, Orphanet:261211]
synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400]
synonym: "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB" RELATED [OMIM:613604]
synonym: "Del(16)(p11.2p12.2)" EXACT [Orphanet:261211]
synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211]
synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211]
xref: DOID:0060400 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="DOID:0060400", source="ORDO:261211/attributed", source="ORDO:261211/ntbt", source="Orphanet:261211"}
xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="ORDO:261211/e"}
xref: Orphanet:261211 {source="DOID:0060400", source="MONDO:equivalentTo", source="OMIM:613604"}
xref: SCTID:719576009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613604"}
xref: UMLS:C4304597 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613604", source="DOID:0060400"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:261211"} ! partial deletion of the short arm of chromosome 16
property_value: exactMatch DOID:0060400
property_value: exactMatch http://identifiers.org/omim/613604
property_value: exactMatch http://identifiers.org/snomedct/719576009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304597
property_value: exactMatch Orphanet:261211

[Term]
id: MONDO:0013321
name: FWS
synonym: "FORSYTHE-WAKELING syndrome" RELATED [MONDO:Lexical, OMIM:613606]
synonym: "FORSYTHE-WAKELING syndrome; FWS" RELATED [OMIM:613606]
synonym: "FWS" EXACT [MONDO:Lexical, OMIM:613606]
synonym: "microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia" RELATED [OMIM:613606]
xref: OMIM:613606 {source="MONDO:equivalentTo"}
xref: UMLS:C3150859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613606"}
is_a: MONDO:0003847 {source="OMIM:613606/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613606
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150859

[Term]
id: MONDO:0013322
name: FAME3
synonym: "cortical myoclonic tremor with epilepsy, familial, 3" RELATED [OMIM:613608]
synonym: "epilepsy, familial ADULT myoclonic, 3" RELATED [MONDO:Lexical, OMIM:613608]
synonym: "epilepsy, familial ADULT myoclonic, 3; FAME3" RELATED [OMIM:613608]
synonym: "FAME3" EXACT [MONDO:Lexical, OMIM:613608]
xref: MESH:C567098 {source="MONDO:equivalentTo"}
xref: OMIM:613608 {source="MONDO:equivalentTo"}
xref: UMLS:C3150860 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613608"}
is_a: MONDO:0000160 {source="DC-OMIM:613608", source="OMIM:613608"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy
property_value: exactMatch http://identifiers.org/mesh/C567098
property_value: exactMatch http://identifiers.org/omim/613608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150860

[Term]
id: MONDO:0013323
name: cranioectodermal dysplasia 2
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CED2" RELATED [MONDO:Lexical, OMIM:613610]
synonym: "cranioectodermal dysplasia 2" EXACT [MONDO:Lexical, OMIM:613610]
synonym: "CRANIOECTODERMAL dysplasia 2; CED2" RELATED [OMIM:613610]
synonym: "cranioectodermal dysplasia caused by mutation in WDR35" EXACT [MONDO:design_pattern]
synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613610]
synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613610 {source="MONDO:equivalentTo"}
xref: UMLS:C3150874 {source="NCBI:mim2gene_medline", source="OMIM:613610", source="MONDO:equivalentTo"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="MONDOLEX:0013323", source="OMIM:613610", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/613610
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150874

[Term]
id: MONDO:0013324
name: lymphedema-posterior choanal atresia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:99141"}
synonym: "CATLPH" RELATED [OMIM:613611]
synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611]
synonym: "choanal atresia and lymphedema; CATLPH" RELATED [OMIM:613611]
xref: ICD10:Q82.0 {source="ORDO:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"}
xref: OMIM:613611 {source="MONDO:equivalentTo", source="ORDO:99141/e", source="Orphanet:99141"}
xref: Orphanet:99141 {source="MONDO:equivalentTo"}
xref: UMLS:C3150875 {source="OMIM:613611", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002013 {source="Orphanet:99141"} ! lymphangioma
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0015503 {source="Orphanet:99141"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:99141", source="Orphanet:99141/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0018729 ! genetic vascular tumor
property_value: exactMatch http://identifiers.org/omim/613611
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150875
property_value: exactMatch Orphanet:99141

[Term]
id: MONDO:0013325
name: COG5-CDG
def: "COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." [Orphanet:263487]
subset: gard_rare
subset: ordo_disease {source="Orphanet:263487"}
synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [Orphanet:263487]
synonym: "CDG III" RELATED [OMIM:613612]
synonym: "CDG syndrome type 3" RELATED [GARD:0001173]
synonym: "CDG syndrome type III" EXACT [Orphanet:263487]
synonym: "CDG-III" EXACT [Orphanet:263487]
synonym: "CDG2I" EXACT [MONDO:Lexical, OMIM:613612, Orphanet:263487]
synonym: "COG5-CDG (CDG-III)" RELATED [GARD:0012348]
synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487]
synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487]
synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612]
synonym: "congenital disorder of glycosylation, type III; CDG2I" RELATED [OMIM:613612]
xref: DOID:0070261 {source="MONDO:equivalentTo"}
xref: GARD:0001173 {source="MONDO:equivalentTo"}
xref: GARD:0012348 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:263487/attributed", source="ORDO:263487/ntbt", source="Orphanet:263487"}
xref: OMIM:613612 {source="ORDO:263487/e", source="MONDO:equivalentTo", source="Orphanet:263487"}
xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"}
xref: SCTID:721100009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.47/0.06"}
xref: UMLS:C3150876 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613612"}
is_a: MONDO:0005501 {source="DC-OMIM:613612", source="MONDOLEX:0013325", source="OMIM:613612"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:263487"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018286 {source="Orphanet:263487"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch DOID:0070261
property_value: exactMatch http://identifiers.org/omim/613612
property_value: exactMatch http://identifiers.org/snomedct/721100009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150876
property_value: exactMatch Orphanet:263487
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 xsd:anyURI {source="GARD:0001173"}

[Term]
id: MONDO:0013326
name: Senior-Loken syndrome 7
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SDCCAG8 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 7" EXACT [MONDO:Lexical, OMIM:613615]
synonym: "SENIOR-Loken syndrome 7; SLSN7" RELATED [OMIM:613615]
synonym: "Senior-Loken syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1, OMIM:613615]
synonym: "SLSN7" RELATED [MONDO:Lexical, OMIM:613615]
xref: OMIM:613615 {source="MONDO:equivalentTo"}
xref: UMLS:C3150877 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613615"}
is_a: MONDO:0017842 {source="DC-OMIM:613615", source="MONDO:Redundant", source="OMIM:613615"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/omim/613615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150877

[Term]
id: MONDO:0013327
name: primary hyperoxaluria type 3
def: "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." [Orphanet:93600]
subset: gard_rare {source="GARD:0010738"}
subset: ordo_clinical_subtype {source="Orphanet:93600"}
synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HP3" RELATED [MONDO:Lexical, OMIM:613616]
synonym: "hyperoxaluria, primary, type 3" RELATED [OMIM:613616]
synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical, OMIM:613616]
synonym: "hyperoxaluria, primary, type III; HP3" RELATED [OMIM:613616]
synonym: "PH III" RELATED [GARD:0010738]
synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214]
xref: GARD:0010738 {source="MONDO:equivalentTo"}
xref: ICD10:E74.8 {source="ORDO:93600/attributed", source="ORDO:93600/ntbt", source="Orphanet:93600"}
xref: NCIT:C123214 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: OMIM:613616 {source="ORDO:93600/e", source="MONDO:equivalentTo", source="Orphanet:93600"}
xref: Orphanet:93600 {source="MONDO:equivalentTo", source="OMIM:613616"}
xref: SCTID:734990008 {source="MONDO:equivalentTo"}
xref: UMLS:C3150878 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C123214", source="OMIM:613616"}
is_a: MONDO:0002474 {source="DC-OMIM:613616", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria
property_value: exactMatch http://identifiers.org/omim/613616
property_value: exactMatch http://identifiers.org/snomedct/734990008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150878
property_value: exactMatch NCIT:C123214
property_value: exactMatch Orphanet:93600
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 xsd:anyURI {source="GARD:0010738"}

[Term]
id: MONDO:0013328
name: retinitis pigmentosa 58
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 58" EXACT [MONDO:Lexical, OMIM:613617]
synonym: "retinitis pigmentosa 58; RP58" RELATED [OMIM:613617]
synonym: "retinitis pigmentosa caused by mutation in ZNF513" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 58" EXACT [DOID:0110362, MONDORULE:2, OMIM:613617]
synonym: "RP58" EXACT [DOID:0110362, MONDO:Lexical, OMIM:613617]
synonym: "ZNF513 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110362 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110362"}
xref: OMIM:613617 {source="MONDO:equivalentTo", source="DOID:0110362"}
xref: UMLS:C3150879 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613617"}
is_a: MONDO:0019200 {source="DC-OMIM:613617", source="DOID:0110362", source="MONDO:Redundant", source="OMIM:613617"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110362
property_value: exactMatch http://identifiers.org/omim/613617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150879

[Term]
id: MONDO:0013329
name: familial clubfoot due to 17q23.1q23.2 microduplication
def: "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." [Orphanet:238578]
subset: ordo_etiological_subtype {source="Orphanet:238578"}
synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618]
synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578]
xref: ICD10:Q66.8 {source="Orphanet:238578", source="ORDO:238578/attributed", source="ORDO:238578/ntbt"}
xref: OMIM:613618 {source="Orphanet:238578", source="ORDO:238578/e", source="MONDO:equivalentTo"}
xref: Orphanet:238578 {source="MONDO:equivalentTo", source="OMIM:613618"}
xref: UMLS:C3150880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613618"}
is_a: MONDO:0000762 {source="DC-OMIM:613618"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016046 {source="Orphanet:238578"} ! familial clubfoot with or without associated lower limb anomalies
is_a: MONDO:0016967 {source="Orphanet:238578"} ! partial duplication of the long arm of chromosome 17
property_value: exactMatch http://identifiers.org/omim/613618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150880
property_value: exactMatch Orphanet:238578

[Term]
id: MONDO:0013330
name: agenesis of the corpus callosum and congenital lymphedema
synonym: "agenesis of the corpus callosum and congenital lymphedema" EXACT [OMIM:613623]
xref: OMIM:613623 {source="MONDO:equivalentTo"}
xref: UMLS:C3150887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613623"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150887

[Term]
id: MONDO:0013331
name: factor 5 and Factor VIII, combined deficiency of, 2
def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" EXACT [MONDO:design_pattern]
synonym: "F5F8D2" RELATED [MONDO:Lexical, OMIM:613625]
synonym: "factor 5 and Factor VIII, combined deficiency of, type 2" EXACT [MONDORULE:1, OMIM:613625]
synonym: "factor V and factor VIII, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:613625]
synonym: "factor V and factor VIII, combined deficiency of, 2; F5F8D2" RELATED [OMIM:613625]
synonym: "MCFD2 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613625 {source="MONDO:equivalentTo"}
xref: UMLS:C3150889 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613625"}
is_a: MONDO:0018175 {source="DC-OMIM:613625", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII
property_value: exactMatch http://identifiers.org/omim/613625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150889

[Term]
id: MONDO:0013332
name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation
synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation" EXACT [OMIM:613627]
synonym: "Tsukahara syndrome" RELATED [OMIM:613627]
xref: OMIM:613627 {source="MONDO:equivalentTo"}
xref: SCTID:719162001 {source="MONDO:kboom-pr-0.75/0.46/0.18", source="MONDO:equivalentTo"}
xref: UMLS:C3150890 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613627"}
is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613627
property_value: exactMatch http://identifiers.org/snomedct/719162001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150890

[Term]
id: MONDO:0013333
name: odontoid hypoplasia
def: "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations." [NCIT:C86969]
synonym: "odontoid hypoplasia" EXACT [OMIM:613628]
xref: NCIT:C86969 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:613628 {source="MONDO:equivalentTo"}
is_a: MONDO:0005497 {source="NCIT:C86969"} ! bone development disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015328"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846439
property_value: exactMatch http://identifiers.org/omim/613628
property_value: exactMatch NCIT:C86969

[Term]
id: MONDO:0013334
name: cocoon syndrome
def: "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." [Orphanet:465824]
subset: ordo_malformation_syndrome {source="Orphanet:465824"}
synonym: "cocoon syndrome" EXACT [OMIM:613630]
synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630]
xref: DOID:0060647 {source="MONDO:equivalentTo"}
xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="ORDO:465824/e", source="DOID:0060647"}
xref: Orphanet:465824 {source="MONDO:equivalentTo"}
xref: UMLS:C3150891 {source="OMIM:613630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:465824"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch DOID:0060647
property_value: exactMatch http://identifiers.org/omim/613630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150891
property_value: exactMatch Orphanet:465824

[Term]
id: MONDO:0013335
name: tuberculin skin test reactivity, absence of
synonym: "tst reactivity, absence of" RELATED [OMIM:613636]
synonym: "Tst1" RELATED [OMIM:613636]
synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636]
xref: OMIM:613636 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150892
property_value: exactMatch http://identifiers.org/omim/613636

[Term]
id: MONDO:0013336
name: chromosome 19p13.13 deletion syndrome
def: "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." [Orphanet:357001]
subset: ordo_malformation_syndrome {source="Orphanet:357001"}
synonym: "19p13.13 microdeletion syndrome" RELATED [Orphanet:357001]
synonym: "chromosome 19p13.13 deletion syndrome" EXACT [OMIM:613638]
synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638]
synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001]
synonym: "monosomy 19p13.13" EXACT [Orphanet:357001]
xref: DOID:0060426 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:357001/attributed", source="ORDO:357001/ntbt", source="Orphanet:357001"}
xref: OMIM:613638 {source="MONDO:equivalentTo", source="DOID:0060426", source="ORDO:357001/e", source="Orphanet:357001"}
xref: Orphanet:357001 {source="MONDO:equivalentTo"}
xref: SCTID:764440006 {source="MONDO:equivalentTo"}
xref: UMLS:C3150894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613638"}
xref: UMLS:CN204595 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357001", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:613638", source="DOID:0060426"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:357001"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016897 {source="Orphanet:357001"} ! partial deletion of the short arm of chromosome 19
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150895
property_value: exactMatch DOID:0060426
property_value: exactMatch http://identifiers.org/omim/613638
property_value: exactMatch http://identifiers.org/snomedct/764440006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204595
property_value: exactMatch Orphanet:357001

[Term]
id: MONDO:0013337
name: neuropathy, hereditary sensory and autonomic, type 1C
def: "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." [DOID:0070157]
synonym: "hereditary sensory and autonomic neuropathy type 1C" RELATED [DOID:0070157]
synonym: "hereditary sensory and autonomic neuropathy type IC" EXACT [DOID:0070157]
synonym: "HSAN 1C" RELATED [OMIM:613640]
synonym: "HSAN1C" EXACT [DOID:0070157, MONDO:Lexical, OMIM:613640]
synonym: "HSN 1C" RELATED [OMIM:613640]
synonym: "neuropathy, hereditary sensory and autonomic, type IC" RELATED [MONDO:Lexical, OMIM:613640]
synonym: "neuropathy, hereditary sensory and autonomic, type IC; HSAN1C" RELATED [OMIM:613640]
synonym: "neuropathy, hereditary sensory, type 1C" RELATED [OMIM:613640]
xref: DOID:0070157 {source="MONDO:equivalentTo"}
xref: OMIM:613640 {source="DOID:0070157", source="MONDO:equivalentTo"}
xref: UMLS:C3150896 {source="OMIM:613640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018213 {source="DOID:0070157", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
property_value: exactMatch DOID:0070157
property_value: exactMatch http://identifiers.org/omim/613640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150896

[Term]
id: MONDO:0013338
name: Charcot-Marie-Tooth disease recessive intermediate b
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." [Orphanet:254334]
subset: ordo_disease {source="Orphanet:254334"}
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204]
synonym: "Charcot-Marie-Tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [DOID:0110204, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical, OMIM:613641]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate B; CMTRIB" RELATED [OMIM:613641]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type B" EXACT [MONDORULE:1, OMIM:613641]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate, B" RELATED [GARD:0012454]
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [DOID:0110204]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [OMIM:613641]
synonym: "CMTRIB" EXACT [DOID:0110204, MONDO:Lexical, OMIM:613641]
synonym: "KARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type B" EXACT [Orphanet:254334]
synonym: "RI-CMTB" EXACT [DOID:0110204]
xref: DOID:0110204 {source="MONDO:equivalentTo"}
xref: GARD:0012454 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="DOID:0110204", source="Orphanet:254334", source="ORDO:254334/attributed", source="ORDO:254334/ntbt"}
xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="ORDO:254334/e", source="MONDO:equivalentTo"}
xref: Orphanet:254334 {source="DOID:0110204", source="OMIM:613641", source="MONDO:equivalentTo"}
xref: UMLS:C3150897 {source="OMIM:613641", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017058 {source="MONDOLEX:0013338", source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110204
property_value: exactMatch http://identifiers.org/omim/613641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150897
property_value: exactMatch Orphanet:254334

[Term]
id: MONDO:0013339
name: dilated cardiomyopathy 1GG
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1GG" RELATED [MONDO:Lexical, OMIM:613642]
synonym: "cardiomyopathy, dilated, 1GG; CMD1GG" RELATED [OMIM:613642]
synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9, OMIM:613642]
synonym: "CMD1GG" EXACT [DOID:0110435, MONDO:Lexical, OMIM:613642]
synonym: "dilated cardiomyopathy type 1GG" EXACT [DOID:0110435, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SDHA" EXACT [MONDO:design_pattern]
synonym: "SDHA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110435 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="DOID:0110435", source="MONDO:subClassOf"}
xref: OMIM:613642 {source="DOID:0110435", source="MONDO:equivalentTo"}
xref: UMLS:C3150898 {source="OMIM:613642", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110435
property_value: exactMatch http://identifiers.org/omim/613642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150898

[Term]
id: MONDO:0013340
name: Parkinson disease 5, autosomal dominant, susceptibility to
def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "PARK5" RELATED [MONDO:Lexical, OMIM:613643]
synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:613643]
synonym: "Parkinson disease 5, autosomal dominant, susceptibility to; PARK5" RELATED [OMIM:613643]
synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [OMIM:613643]
synonym: "UCHL1 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MONDO:design_pattern]
xref: OMIM:613643 {source="MONDO:equivalentTo"}
xref: UMLS:C3150899 {source="NCBI:mim2gene_medline", source="OMIM:613643", source="MONDO:equivalentTo"}
is_a: MONDO:0017279 {source="MONDO:Redundant", source="ORDO:2828/btnt"} ! young-onset Parkinson disease
is_a: MONDO:0020573 ! inherited disease susceptibility
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
relationship: predisposes_towards MONDO:0005180 ! Parkinson disease
property_value: exactMatch http://identifiers.org/omim/613643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150899

[Term]
id: MONDO:0013341
name: methylmalonic acidemia due to transcobalamin receptor defect
def: "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." [Orphanet:280183]
subset: ordo_biological_anomaly {source="Orphanet:280183"}
synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern]
synonym: "methylmalonic acidemia, TCb1R type" EXACT [DOID:0060741, Orphanet:280183]
synonym: "methylmalonic acidemia, TCbIR type" EXACT [DOID:0060741, Orphanet:280183]
synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646]
synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646]
synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646]
xref: DOID:0060741 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="DOID:0060741", source="Orphanet:280183", source="ORDO:280183/attributed", source="ORDO:280183/ntbt"}
xref: OMIM:613646 {source="ORDO:280183/e", source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo"}
xref: Orphanet:280183 {source="DOID:0060741", source="MONDO:equivalentTo", source="OMIM:613646"}
xref: UMLS:C3150900 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613646"}
is_a: MONDO:0002012 {source="DC-OMIM:613646", source="DOID:0060741", source="MONDO:Entailed", source="MONDO:Redundant"} ! methylmalonic acidemia
is_a: MONDO:0019220 {source="Orphanet:280183"} ! inborn disorder of cobalamin metabolism and transport
property_value: exactMatch DOID:0060741
property_value: exactMatch http://identifiers.org/omim/613646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150900
property_value: exactMatch Orphanet:280183

[Term]
id: MONDO:0013342
name: hereditary spastic paraplegia 48
def: "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." [Orphanet:306511]
subset: ordo_disease {source="Orphanet:306511"}
synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800]
synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800]
synonym: "hereditary spastic paraplegia caused by mutation in AP5Z1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE:2]
synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647]
synonym: "spastic paraplegia 48, autosomal recessive; SPG48" RELATED [OMIM:613647]
synonym: "SPG48" EXACT [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511]
xref: DOID:0110800 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110800", source="ORDO:306511/attributed", source="ORDO:306511/ntbt", source="Orphanet:306511"}
xref: OMIM:613647 {source="DOID:0110800", source="MONDO:equivalentTo", source="ORDO:306511/e", source="Orphanet:306511"}
xref: Orphanet:306511 {source="DOID:0110800", source="MONDO:equivalentTo", source="OMIM:613647"}
xref: SCTID:763367009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150901 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613647"}
is_a: MONDO:0002561 {source="Orphanet:306511"} ! lysosomal storage disease
is_a: MONDO:0017915 {source="Orphanet:306511"} ! pure or complex autosomal recessive spastic paraplegia
is_a: MONDO:0019058 {source="Orphanet:306511"} ! neurometabolic disease
property_value: exactMatch DOID:0110800
property_value: exactMatch http://identifiers.org/omim/613647
property_value: exactMatch http://identifiers.org/snomedct/763367009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150901
property_value: exactMatch Orphanet:306511

[Term]
id: MONDO:0013343
name: C1Q deficiency
def: "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." [https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency, PMID:29449492]
subset: gard_rare {source="GARD:0012958"}
synonym: "C1Q deficiency" EXACT [MONDO:Lexical, OMIM:613652]
synonym: "C1q deficiency; C1QD" EXACT [OMIM:613652]
synonym: "C1QD" EXACT [MONDO:Lexical, OMIM:613652]
xref: GARD:0012958 {source="MONDO:equivalentTo"}
xref: NCIT:C119990 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:613652 {source="MONDO:equivalentTo"}
xref: UMLS:C3150902 {source="OMIM:613652", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C119990"}
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: exactMatch http://identifiers.org/omim/613652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150902
property_value: exactMatch NCIT:C119990
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency xsd:anyURI {source="GARD:0012958"}

[Term]
id: MONDO:0013344
name: migraine, with or without aura, susceptibility to, 13
def: "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "KCNK18 migraine disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MGR13" RELATED [MONDO:Lexical, OMIM:613656]
synonym: "migraine disorder caused by mutation in KCNK18" EXACT [MONDO:design_pattern]
synonym: "migraine with or without aura, susceptibility to, 13" RELATED [OMIM:613656]
synonym: "migraine with or without aura, susceptibility to, 13; MGR13" RELATED [OMIM:613656]
synonym: "migraine, with or without aura, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:613656]
synonym: "migraine, with or without aura, susceptibility to, 13; MGR13" RELATED [OMIM:613656]
synonym: "migraine, with or without aura, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:613656]
synonym: "susceptibility to migraine with or without aura 13" RELATED [OMIM:613656]
xref: OMIM:613656 {source="MONDO:equivalentTo"}
is_a: MONDO:0005277 {source="DC-OMIM:613656", source="MONDO:Redundant", source="OMIM:613656/inferred"} ! migraine disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005277 ! migraine disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150908
property_value: exactMatch http://identifiers.org/omim/613656

[Term]
id: MONDO:0013345
name: d-2-hydroxyglutaric aciduria 2
def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [MONDO:Lexical, OMIM:613657]
synonym: "D-2-hydroxyglutaric aciduria 2; D2HGA2" RELATED [OMIM:613657]
synonym: "D-2-hydroxyglutaric aciduria caused by mutation in IDH2" EXACT [MONDO:design_pattern]
synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1, OMIM:613657]
synonym: "D2HGA2" RELATED [MONDO:Lexical, OMIM:613657]
synonym: "IDH2 D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613657 {source="MONDO:equivalentTo"}
xref: UMLS:C3150909 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613657"}
is_a: MONDO:0010924 {source="MONDO:Redundant", source="MONDOLEX:0013345", source="OMIM:613657", source="ORDO:79315/btnt"} ! D-2-hydroxyglutaric aciduria
property_value: exactMatch http://identifiers.org/omim/613657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150909

[Term]
id: MONDO:0013346
name: brain calcification, Rajab type
def: "Brain calcification, Rajab type is an inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease." [Orphanet:178506]
subset: ordo_disease {source="Orphanet:178506"}
synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [OMIM:613658]
synonym: "NEDBLLA" RELATED [OMIM:618007]
synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007]
synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities; NEDBLLA" RELATED [OMIM:618007]
synonym: "Rajab syndrome" RELATED [OMIM:613658]
xref: OMIM:613658 {source="MONDO:equivalentTo", source="Orphanet:178506", source="ORDO:178506/e"}
xref: OMIM:618007 {source="MONDO:equivalentTo"}
xref: Orphanet:178506 {source="MONDO:equivalentTo", source="OMIM:613658"}
xref: SCTID:720576001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.00"}
xref: UMLS:C3150910 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613658"}
xref: UMLS:CN248515 {source="MONDO:equivalentTo"}
is_a: MONDO:0019117 {source="Orphanet:178506"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/613658
property_value: exactMatch http://identifiers.org/omim/618007
property_value: exactMatch http://identifiers.org/snomedct/720576001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248515
property_value: exactMatch Orphanet:178506

[Term]
id: MONDO:0013347
name: obsolete gastric cancer
is_obsolete: true
replaced_by: MONDO:0001056

[Term]
id: MONDO:0013348
name: cone-rod dystrophy 15
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDHR1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 15" EXACT [MONDO:Lexical, OMIM:613660]
synonym: "cone-rod dystrophy 15; CORD15" RELATED [OMIM:613660]
synonym: "cone-rod dystrophy caused by mutation in CDHR1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 15" EXACT [DOID:0111021, MONDORULE:2, OMIM:613660]
synonym: "CORD15" EXACT [DOID:0111021, MONDO:Lexical, OMIM:613660]
synonym: "retinitis pigmentosa 65" RELATED [OMIM:613660]
xref: DOID:0111021 {source="MONDO:equivalentTo"}
xref: OMIM:613660 {source="MONDO:equivalentTo", source="DOID:0111021"}
xref: UMLS:C3150912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613660"}
is_a: MONDO:0015993 {source="DC-OMIM:613660", source="DOID:0111021", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="DC-OMIM:613660", source="OMIM:613660"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3552852
property_value: exactMatch DOID:0111021
property_value: exactMatch http://identifiers.org/omim/613660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150912

[Term]
id: MONDO:0013349
name: ALG11-CDG
def: "(13q14.3)." [Orphanet:280071]
subset: ordo_disease {source="Orphanet:280071"}
synonym: "ALG11-CDG (CDG-Ip)" RELATED [GARD:0012396]
synonym: "carbohydrate deficient glycoprotein syndrome type Ip" EXACT [Orphanet:280071]
synonym: "CDG syndrome type Ip" EXACT [Orphanet:280071]
synonym: "CDG-Ip" EXACT [Orphanet:280071]
synonym: "CDG1P" EXACT [MONDO:Lexical, OMIM:613661, Orphanet:280071]
synonym: "congenital disorder of glycosylation type 1p" EXACT [Orphanet:280071]
synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071]
synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661]
synonym: "congenital disorder of glycosylation, type Ip; CDG1P" RELATED [OMIM:613661]
xref: GARD:0012396 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:280071", source="ORDO:280071/attributed", source="ORDO:280071/ntbt"}
xref: OMIM:613661 {source="ORDO:280071/e", source="Orphanet:280071", source="MONDO:equivalentTo"}
xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"}
xref: SCTID:733085004 {source="MONDO:equivalentTo"}
xref: UMLS:C3150913 {source="OMIM:613661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:613661", source="MONDOLEX:0013349"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:280071"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:280071"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:280071"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: exactMatch http://identifiers.org/omim/613661
property_value: exactMatch http://identifiers.org/snomedct/733085004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150913
property_value: exactMatch Orphanet:280071

[Term]
id: MONDO:0013350
name: mitochondrial DNA depletion syndrome 4b
synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" RELATED [MONDO:Lexical, OMIM:613662]
synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type); MTDPS4B" RELATED [OMIM:613662]
synonym: "mitochondrial DNA depletion syndrome type 4b" EXACT [DOID:0080123, MONDORULE:4]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related" RELATED [OMIM:613662]
synonym: "Mngie, Polg-related" RELATED [OMIM:613662]
synonym: "MTDPS4B" RELATED [MONDO:Lexical, OMIM:613662]
xref: DOID:0080123 {source="MONDO:equivalentTo"}
xref: OMIM:613662 {source="DOID:0080123", source="MONDO:equivalentTo"}
xref: UMLS:C3150914 {source="OMIM:613662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="DC-OMIM:613662", source="OMIM:613662"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch DOID:0080123
property_value: exactMatch http://identifiers.org/omim/613662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150914

[Term]
id: MONDO:0013351
name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
def: "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." [Orphanet:402364]
subset: ordo_malformation_syndrome {source="Orphanet:402364"}
synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [OMIM:613668]
synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995]
xref: GARD:0010995 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="Orphanet:402364", source="ORDO:402364/attributed", source="ORDO:402364/ntbt"}
xref: OMIM:613668 {source="MONDO:equivalentTo", source="Orphanet:402364", source="ORDO:402364/e"}
xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"}
xref: UMLS:C3150921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613668"}
is_a: MONDO:0017119 {source="Orphanet:402364"} ! syndrome with microcephaly as major feature
property_value: exactMatch http://identifiers.org/omim/613668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150921
property_value: exactMatch Orphanet:402364

[Term]
id: MONDO:0013352
name: intellectual disability-severe speech delay-mild dysmorphism syndrome
def: "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene ." [https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome]
subset: gard_rare {source="GARD:0012501"}
subset: ordo_malformation_syndrome {source="Orphanet:391372"}
synonym: "FOXP1 related global developmental delay, intellectual disability and speech defects" RELATED [GARD:0012501]
synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501]
synonym: "mental retardation with language impairment and with or without autistic features" RELATED [OMIM:613670]
xref: EFO:1001500 {source="MONDO:equivalentTo"}
xref: GARD:0012501 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:391372", source="ORDO:391372/attributed", source="ORDO:391372/ntbt"}
xref: OMIM:613670 {source="Orphanet:391372", source="ORDO:391372/e", source="MONDO:equivalentTo"}
xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"}
xref: UMLS:C3150923 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613670"}
xref: UMLS:CN204965 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:391372"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/613670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204965
property_value: exactMatch Orphanet:391372
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome xsd:anyURI {source="GARD:0012501"}

[Term]
id: MONDO:0013353
name: intellectual disability, anterior maxillary protrusion, and strabismus
synonym: "mental retardation, anterior maxillary protrusion, and strabismus" RELATED [MONDO:Lexical, OMIM:613671]
synonym: "mental retardation, anterior maxillary protrusion, and strabismus; MRAMS" RELATED [OMIM:613671]
synonym: "MRAMS" RELATED [MONDO:Lexical, OMIM:613671]
xref: OMIM:613671 {source="MONDO:equivalentTo"}
xref: UMLS:C3150924 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613671"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613671
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150924

[Term]
id: MONDO:0013354
name: spastic ataxia 4
def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:254343"}
synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELATED [GARD:0010992]
synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992]
synonym: "autosomal recessive spastic ataxia caused by mutation in MTPAP" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 4" EXACT [Orphanet:254343]
synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [Orphanet:254343]
synonym: "MTPAP autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613672]
synonym: "spastic ataxia 4, autosomal recessive; SPAX4" RELATED [OMIM:613672]
synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1]
synonym: "SPAX4" EXACT [MONDO:Lexical, OMIM:613672, Orphanet:254343]
xref: DOID:0050943 {source="MONDO:equivalentTo"}
xref: GARD:0010992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="ORDO:254343/attributed", source="ORDO:254343/ntbt"}
xref: OMIM:613672 {source="Orphanet:254343", source="ORDO:254343/e", source="MONDO:equivalentTo", source="DOID:0050943"}
xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"}
xref: UMLS:C3150925 {source="OMIM:613672", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN230090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017847 {source="MONDO:Redundant", source="MONDOLEX:0013354", source="Orphanet:254343"} ! autosomal recessive spastic ataxia
is_a: MONDO:0018157 {source="Orphanet:254343"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050943
property_value: exactMatch http://identifiers.org/omim/613672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150925
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230090
property_value: exactMatch Orphanet:254343

[Term]
id: MONDO:0013355
name: congenital dyserythropoietic anemia type 4
def: "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." [Orphanet:293825]
subset: ordo_disease {source="Orphanet:293825"}
synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [OMIM:613673]
synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical, OMIM:613673]
synonym: "anemia, congenital dyserythropoietic, type IV; CDAN4" RELATED [OMIM:613673]
synonym: "CDA due to KLF1 mutation" EXACT [Orphanet:293825]
synonym: "CDA IV" EXACT [Orphanet:293825]
synonym: "CDA type 4" EXACT [Orphanet:293825]
synonym: "CDA type IV" EXACT [Orphanet:293825]
synonym: "CDA, type 4" RELATED [OMIM:613673]
synonym: "CDAN4" EXACT [MONDO:Lexical, OMIM:613673, Orphanet:293825]
synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orphanet:293825]
synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825]
xref: ICD10:D64.4 {source="MONDO:subClassOf", source="Orphanet:293825", source="ORDO:293825/attributed", source="ORDO:293825/ntbt"}
xref: OMIM:613673 {source="Orphanet:293825", source="ORDO:293825/e", source="MONDO:equivalentTo"}
xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"}
xref: SCTID:719453009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3150926 {source="OMIM:613673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019403 {source="DC-OMIM:613673", source="OMIM:613673", source="Orphanet:293825", source="linkedlifedata"} ! congenital dyserythropoietic anemia
property_value: exactMatch http://identifiers.org/omim/613673
property_value: exactMatch http://identifiers.org/snomedct/719453009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150926
property_value: exactMatch Orphanet:293825

[Term]
id: MONDO:0013356
name: vesicoureteral reflux 3
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SOX17 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in SOX17" EXACT []
synonym: "vesicoureteral reflux 3" EXACT [MONDO:Lexical, OMIM:613674]
synonym: "vesicoureteral reflux 3; VUR3" RELATED [OMIM:613674]
synonym: "vesicoureteral reflux type 3" EXACT [MONDORULE:1, OMIM:613674]
synonym: "VUR3" RELATED [MONDO:Lexical, OMIM:613674]
xref: OMIM:613674 {source="MONDO:equivalentTo"}
xref: UMLS:C3150927 {source="OMIM:613674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/613674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150927

[Term]
id: MONDO:0013357
name: chromosome 17q11.2 deletion syndrome, 1.4Mb
def: "17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." [Orphanet:97685]
subset: ordo_clinical_subtype {source="Orphanet:97685"}
synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403]
synonym: "chromosome 17q11.2 deletion syndrome" RELATED [GARD:0005408]
synonym: "chromosome 17q11.2 deletion syndrome, 1.4-MB" RELATED [OMIM:613675]
synonym: "Del(17)(q11)" EXACT [Orphanet:97685]
synonym: "monosomy 17q11" EXACT [Orphanet:97685]
synonym: "neurofibromatosis 1 microdeletion syndrome" RELATED [OMIM:613675]
synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [DOID:0060403, Orphanet:97685]
synonym: "NF1 microdeletion syndrome" EXACT [DOID:0060403, OMIM:613675, Orphanet:97685]
synonym: "NF1 microduplication syndrome" RELATED [OMIM:613675]
synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675]
xref: DOID:0060403 {source="MONDO:equivalentTo"}
xref: GARD:0005408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q85.0 {source="Orphanet:97685", source="DOID:0060403", source="ORDO:97685/attributed", source="ORDO:97685/ntbt"}
xref: OMIM:613675 {source="Orphanet:97685", source="MONDO:equivalentTo", source="DOID:0060403", source="ORDO:97685/e"}
xref: Orphanet:97685 {source="OMIM:613675", source="MONDO:equivalentTo", source="DOID:0060403"}
is_a: MONDO:0000761 {source="DC-OMIM:613675", source="DOID:0060403"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015652 ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016915 {source="Orphanet:97685"} ! partial deletion of the long arm of chromosome 17
is_a: MONDO:0018975 {source="MONDOLEX:0013357", source="Orphanet:97685"} ! neurofibromatosis type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150928
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495679
property_value: exactMatch DOID:0060403
property_value: exactMatch http://identifiers.org/omim/613675
property_value: exactMatch Orphanet:97685

[Term]
id: MONDO:0013358
name: Seckel syndrome 4
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CENPJ Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL4" EXACT [DOID:0070010, MONDO:Lexical, OMIM:613676]
synonym: "Seckel syndrome 4" EXACT [MONDO:Lexical, OMIM:613676]
synonym: "Seckel syndrome 4; SCKL4" RELATED [OMIM:613676]
synonym: "Seckel syndrome caused by mutation in CENPJ" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1, OMIM:613676]
xref: DOID:0070010 {source="MONDO:equivalentTo"}
xref: OMIM:613676 {source="DOID:0070010", source="MONDO:equivalentTo"}
xref: UMLS:C3888212 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:613676", source="DOID:0070010", source="MONDO:Redundant", source="MONDOLEX:0013358", source="OMIM:613676"} ! Seckel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1826553
property_value: exactMatch DOID:0070010
property_value: exactMatch http://identifiers.org/omim/613676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888212

[Term]
id: MONDO:0013359
name: familial hyperaldosteronism type III
def: "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." [Orphanet:251274]
subset: ordo_disease {source="Orphanet:251274"}
synonym: "familial hyperaldosteronism type 3" EXACT [Orphanet:251274]
synonym: "FH 3" RELATED [OMIM:613677]
synonym: "FH III" RELATED [GARD:0012362]
synonym: "FH-III" EXACT [Orphanet:251274]
synonym: "FH3" EXACT [Orphanet:251274]
synonym: "HALD3" RELATED [OMIM:613677]
synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677]
synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677]
synonym: "hyperaldosteronism, familial, type III; HALD3" RELATED [OMIM:613677]
xref: GARD:0012362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="Orphanet:251274", source="ORDO:251274/attributed", source="ORDO:251274/ntbt"}
xref: OMIM:613677 {source="Orphanet:251274", source="ORDO:251274/e", source="MONDO:equivalentTo"}
xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"}
xref: SCTID:703234002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3150933 {source="OMIM:613677", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C3838758 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016525 {source="Orphanet:251274", source="linkedlifedata"} ! familial hyperaldosteronism
property_value: exactMatch http://identifiers.org/omim/613677
property_value: exactMatch http://identifiers.org/snomedct/703234002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838758
property_value: exactMatch Orphanet:251274

[Term]
id: MONDO:0013360
name: brachyolmia, Maroteaux type
def: "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." [Orphanet:93302]
subset: ordo_malformation_syndrome {source="Orphanet:93302"}
synonym: "BCYM2" RELATED [MONDO:Lexical, OMIM:613678]
synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302]
synonym: "brachyolmia type 2; BCYM2" RELATED [OMIM:613678]
synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678]
xref: ICD10:Q76.3 {source="ORDO:93302/attributed", source="ORDO:93302/ntbt", source="Orphanet:93302"}
xref: OMIM:613678 {source="ORDO:93302/e", source="MONDO:equivalentTo", source="Orphanet:93302"}
xref: Orphanet:93302 {source="MONDO:equivalentTo", source="OMIM:613678"}
xref: SCTID:389165004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0015262 {source="DC-OMIM:613678", source="Orphanet:93302", source="linkedlifedata"} ! brachyolmia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1300264
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3159322
property_value: exactMatch http://identifiers.org/omim/613678
property_value: exactMatch http://identifiers.org/snomedct/389165004
property_value: exactMatch Orphanet:93302

[Term]
id: MONDO:0013361
name: congenital prothrombin deficiency
def: "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." [Orphanet:325]
subset: gard_rare
subset: ordo_disease {source="Orphanet:325"}
synonym: "congenital factor II deficiency" RELATED [Orphanet:325]
synonym: "Dysprothrombinemia" EXACT [OMIM:613679, Orphanet:325]
synonym: "factor 2 deficiency" BROAD [GARD:0002235]
synonym: "factor II deficiency" BROAD [DOID:2235, NCIT:C26799]
synonym: "hereditary prothrombin deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hypoprothrombinemia" BROAD [DOID:2235, OMIM:613679, Orphanet:325]
synonym: "prothrombin deficiency" BROAD [Orphanet:325]
synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679]
xref: DOID:2235 {source="MONDO:equivalentTo"}
xref: GARD:0002235 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="Orphanet:325", source="ORDO:325/attributed", source="ORDO:325/ntbt"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007020 {source="DOID:2235", source="MONDO:equivalentTo"}
xref: NCIT:C131737 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: OMIM:613679 {source="Orphanet:325", source="DOID:2235", source="MONDO:equivalentTo", source="ORDO:325/e"}
xref: Orphanet:325 {source="MONDO:equivalentTo", source="OMIM:613679"}
xref: SCTID:73975000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
xref: UMLS:C0020640 {source="Orphanet:325", source="DOID:2235", source="NCBI:mim2gene_medline", source="NCIT:C131737", source="MONDO:equivalentTo", source="OMIM:613679"}
is_a: MONDO:0006025 {source="DOID:2235", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015722 {source="Orphanet:325"} ! congenital vitamin K-dependent coagulation factors deficiency
is_a: MONDO:0021181 {source="MESH:D007020", source="MONDO:Redundant", source="OMIM:613679/inferred", source="OWLReasoner:2017"} ! inherited blood coagulation disorder
is_a: MONDO:0024307 ! prothrombin deficiency
intersection_of: MONDO:0024307 ! prothrombin deficiency
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272317
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3203356
property_value: exactMatch DOID:2235
property_value: exactMatch http://identifiers.org/mesh/D007020
property_value: exactMatch http://identifiers.org/omim/613679
property_value: exactMatch http://identifiers.org/snomedct/73975000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020640
property_value: exactMatch NCIT:C131737
property_value: exactMatch Orphanet:325
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency xsd:anyURI {source="GARD:0002235"}

[Term]
id: MONDO:0013362
name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:363444"}
synonym: "BBIS" EXACT [MONDO:Lexical, OMIM:613680, Orphanet:363444]
synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680]
synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444]
synonym: "BEAULIEU-BOYCOTT-Innes syndrome; BBIS" RELATED [OMIM:613680]
synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680]
xref: ICD10:Q87.0 {source="ORDO:363444/attributed", source="ORDO:363444/ntbt", source="Orphanet:363444"}
xref: OMIM:613680 {source="ORDO:363444/e", source="MONDO:equivalentTo", source="Orphanet:363444"}
xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"}
xref: UMLS:C3150939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613680"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363444", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:363444"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/613680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150939
property_value: exactMatch Orphanet:363444

[Term]
id: MONDO:0013363
name: chromosome 2q31.1 duplication syndrome
synonym: "chromosome 2q31.1 duplication syndrome" EXACT [OMIM:613681]
synonym: "mesomelic dysplasia, 2Q31.1 Duplication-related" RELATED [OMIM:613681]
xref: DOID:0060458 {source="MONDO:equivalentTo"}
xref: OMIM:613681 {source="MONDO:equivalentTo", source="DOID:0060458"}
xref: UMLS:C3150940 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613681"}
is_a: MONDO:0000762 {source="DC-OMIM:613681", source="DOID:0060458"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0007977 {source="ORDO:1836/btnt"} ! mesomelic dysplasia, Kantaputra type
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0060458
property_value: exactMatch http://identifiers.org/omim/613681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150940

[Term]
id: MONDO:0013364
name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:353284"}
synonym: "EP300 Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RSTS2" RELATED [MONDO:Lexical, OMIM:613684]
synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684]
synonym: "Rubinstein-Taybi syndrome 2; RSTS2" RELATED [OMIM:613684]
synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT []
synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684]
xref: ICD10:Q87.2 {source="ORDO:353284/attributed", source="ORDO:353284/ntbt", source="Orphanet:353284"}
xref: NCIT:C153291 {source="MONDO:equivalentTo"}
xref: OMIM:613684 {source="MONDO:equivalentTo", source="Orphanet:353284", source="ORDO:353284/e"}
xref: Orphanet:353284 {source="OMIM:613684", source="MONDO:equivalentTo"}
xref: UMLS:C3150941 {source="OMIM:613684", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019188 {source="DC-OMIM:613684", source="OMIM:613684", source="Orphanet:353284"} ! Rubinstein-Taybi syndrome
property_value: exactMatch http://identifiers.org/omim/613684
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150941
property_value: exactMatch NCIT:C153291
property_value: exactMatch Orphanet:353284

[Term]
id: MONDO:0013365
name: autosomal recessive nonsyndromic deafness 83
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2." [DOID:0110528]
synonym: "autosomal recessive deafness 83" EXACT [DOID:0110528]
synonym: "autosomal recessive nonsyndromic deafness type 83" EXACT [DOID:0110528, MONDORULE:2]
synonym: "deafness, autosomal recessive 83" RELATED [MONDO:Lexical, OMIM:613685]
synonym: "deafness, autosomal recessive 83; DFNB83" RELATED [OMIM:613685]
synonym: "DFNB83" EXACT [DOID:0110528, MONDO:Lexical, OMIM:613685]
xref: DOID:0110528 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110528"}
xref: OMIM:613685 {source="MONDO:equivalentTo", source="DOID:0110528"}
is_a: MONDO:0019588 {source="DC-OMIM:613685", source="DOID:0110528", source="OMIM:613685"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2829263
property_value: exactMatch DOID:0110528
property_value: exactMatch http://identifiers.org/omim/613685

[Term]
id: MONDO:0013366
name: spondylocostal dysostosis 4, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in HES7" EXACT []
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7" EXACT [MONDO:design_pattern]
synonym: "HES7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Hes7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern]
synonym: "SCDO4" RELATED [MONDO:Lexical, OMIM:613686]
synonym: "spondylocostal dysostosis 4" RELATED [GARD:0004976]
synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613686]
synonym: "spondylocostal dysostosis 4, autosomal recessive; SCDO4" RELATED [OMIM:613686]
xref: GARD:0004976 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:613686 {source="MONDO:equivalentTo"}
xref: UMLS:C3150942 {source="OMIM:613686", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:613686", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
property_value: exactMatch http://identifiers.org/omim/613686
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150942

[Term]
id: MONDO:0013367
name: long QT syndrome 2
def: "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137957]
subset: gard_rare {source="GARD:0003285"}
synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2" EXACT [MONDO:Lexical, OMIM:613688]
synonym: "long QT syndrome 2, acquired, susceptibility to" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2; LQT2" RELATED [OMIM:613688]
synonym: "long QT syndrome type 2" EXACT [DOID:0110645, MONDORULE:1, OMIM:613688]
synonym: "LQT2" EXACT [DOID:0110645, MONDO:Lexical, OMIM:613688]
xref: DOID:0110645 {source="MONDO:equivalentTo"}
xref: GARD:0003285 {source="MONDO:equivalentTo"}
xref: HGNC:6251 {source="GARD:0003285"}
xref: ICD10:I45.8 {source="DOID:0110645"}
xref: MESH:C563614 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C137957 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:613688 {source="DOID:0110645", source="MONDO:equivalentTo"}
xref: UMLS:C3150943 {source="OMIM:613688", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:613688", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835325
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276240
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277700
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279092
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279093
property_value: exactMatch DOID:0110645
property_value: exactMatch http://identifiers.org/mesh/C563614
property_value: exactMatch http://identifiers.org/omim/613688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150943
property_value: exactMatch NCIT:C137957
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 xsd:anyURI {source="GARD:0003285"}

[Term]
id: MONDO:0013368
name: mammary-digital-nail syndrome
def: "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." [Orphanet:238744]
subset: ordo_malformation_syndrome {source="Orphanet:238744"}
synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689]
synonym: "mammary-digital-nail syndrome; MDNS" RELATED [OMIM:613689]
synonym: "MDN syndrome" EXACT [Orphanet:238744]
synonym: "MDNS" RELATED [MONDO:Lexical, OMIM:613689]
synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744]
xref: ICD10:Q87.2 {source="Orphanet:238744", source="ORDO:238744/attributed", source="ORDO:238744/ntbt"}
xref: OMIM:613689 {source="ORDO:238744/e", source="Orphanet:238744", source="MONDO:equivalentTo"}
xref: Orphanet:238744 {source="MONDO:equivalentTo", source="OMIM:613689"}
xref: SCTID:718679004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.00"}
xref: UMLS:C3150946 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613689"}
is_a: MONDO:0015852 {source="Orphanet:238744"} ! excess breast volume or number
is_a: MONDO:0017432 {source="Orphanet:238744"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:238744", source="Orphanet:238744/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/omim/613689
property_value: exactMatch http://identifiers.org/snomedct/718679004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150946
property_value: exactMatch Orphanet:238744

[Term]
id: MONDO:0013369
name: hypertrophic cardiomyopathy 7
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial hypertrophic 7" EXACT [DOID:0110313]
synonym: "cardiomyopathy, familial hypertrophic, 7" RELATED [MONDO:Lexical, OMIM:613690]
synonym: "cardiomyopathy, familial hypertrophic, 7; CMH7" RELATED [OMIM:613690]
synonym: "cardiomyopathy, familial hypertrophic, type 7" EXACT [MONDORULE:1, OMIM:613690]
synonym: "CMH7" EXACT [DOID:0110313, MONDO:Lexical, OMIM:613690]
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 7" EXACT [DOID:0110313, MONDORULE:1]
synonym: "TNNI3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110313 {source="MONDO:equivalentTo"}
xref: OMIM:613690 {source="DOID:0110313", source="MONDO:equivalentTo"}
xref: UMLS:C1860752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613690"}
is_a: MONDO:0024573 {source="MONDOLEX:0013369", source="OMIM", source="OMIM:613690"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110313
property_value: exactMatch http://identifiers.org/omim/613690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860752

[Term]
id: MONDO:0013370
name: long QT syndrome 6
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010434"}
synonym: "KCNE2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:613693]
synonym: "long QT syndrome 6" EXACT [MONDO:Lexical, OMIM:613693]
synonym: "long QT syndrome 6, acquired, susceptibility to" RELATED [OMIM:613693]
synonym: "long QT syndrome 6; LQT6" RELATED [OMIM:613693]
synonym: "long QT syndrome caused by mutation in KCNE2" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 6" EXACT [DOID:0110648, MONDORULE:1, OMIM:613693]
synonym: "LQT6" EXACT [DOID:0110648, MONDO:Lexical, OMIM:613693]
xref: DOID:0110648 {source="MONDO:equivalentTo"}
xref: GARD:0010434 {source="MONDO:equivalentTo"}
xref: HGNC:6242 {source="GARD:0010434"}
xref: ICD10:I45.8 {source="DOID:0110648"}
xref: MESH:C566333 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613693 {source="DOID:0110648", source="MONDO:equivalentTo"}
xref: UMLS:C3150953 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613693"}
is_a: MONDO:0019171 {source="OMIM:613693", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863518
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150954
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276241
property_value: exactMatch DOID:0110648
property_value: exactMatch http://identifiers.org/mesh/C566333
property_value: exactMatch http://identifiers.org/omim/613693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150953
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 xsd:anyURI {source="GARD:0010434"}

[Term]
id: MONDO:0013371
name: dilated cardiomyopathy 1U
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1U" RELATED [MONDO:Lexical, OMIM:613694]
synonym: "cardiomyopathy, dilated, 1U; CMD1U" RELATED [OMIM:613694]
synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4, OMIM:613694]
synonym: "CMD1U" EXACT [DOID:0110455, MONDO:Lexical, OMIM:613694]
synonym: "dilated cardiomyopathy type 1U" EXACT [DOID:0110455, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "PSEN1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110455 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110455"}
xref: MESH:C566296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613694 {source="MONDO:equivalentTo", source="DOID:0110455"}
xref: UMLS:C3160720 {source="OMIM:613694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110455
property_value: exactMatch http://identifiers.org/mesh/C566296
property_value: exactMatch http://identifiers.org/omim/613694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160720

[Term]
id: MONDO:0013372
name: long QT syndrome 5
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010433"}
synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695]
synonym: "long QT syndrome 5" EXACT [MONDO:Lexical, OMIM:613695]
synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [OMIM:613695]
synonym: "long QT syndrome 5; LQT5" RELATED [OMIM:613695]
synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695]
synonym: "LQT5" EXACT [DOID:0110647, MONDO:Lexical, OMIM:613695]
xref: DOID:0110647 {source="MONDO:equivalentTo"}
xref: GARD:0010433 {source="MONDO:equivalentTo"}
xref: HGNC:6240 {source="GARD:0010433"}
xref: ICD10:I45.8 {source="DOID:0110647"}
xref: MESH:C566766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613695 {source="DOID:0110647", source="MONDO:equivalentTo"}
xref: UMLS:C1867904 {source="OMIM:613695", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:613695", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150956
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279092
property_value: exactMatch DOID:0110647
property_value: exactMatch http://identifiers.org/mesh/C566766
property_value: exactMatch http://identifiers.org/omim/613695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867904
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 xsd:anyURI {source="GARD:0010433"}

[Term]
id: MONDO:0013373
name: dilated cardiomyopathy 1V
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1V" RELATED [MONDO:Lexical, OMIM:613697]
synonym: "cardiomyopathy, dilated, 1V; CMD1V" RELATED [OMIM:613697]
synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4, OMIM:613697]
synonym: "CMD1V" EXACT [DOID:0110427, MONDO:Lexical, OMIM:613697]
synonym: "dilated cardiomyopathy type 1V" EXACT [DOID:0110427, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" EXACT [MONDO:design_pattern]
synonym: "PSEN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110427 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110427"}
xref: MESH:C566856 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613697 {source="DOID:0110427", source="MONDO:equivalentTo"}
xref: UMLS:C3150958 {source="OMIM:613697", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110427
property_value: exactMatch http://identifiers.org/mesh/C566856
property_value: exactMatch http://identifiers.org/omim/613697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150958

[Term]
id: MONDO:0013374
name: supernumerary der(22)t(8;22) syndrome
synonym: "supernumerary der(22)t(8;22) syndrome" EXACT [OMIM:613700]
xref: OMIM:613700 {source="MONDO:equivalentTo"}
xref: UMLS:C3150966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613700"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150966

[Term]
id: MONDO:0013375
name: Klippel-Feil syndrome 3, autosomal dominant
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF3 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF3" EXACT [MONDO:design_pattern]
synonym: "KFS3" RELATED [MONDO:Lexical, OMIM:613702]
synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613702]
synonym: "Klippel-FEIL syndrome 3, autosomal dominant; KFS3" RELATED [OMIM:613702]
xref: OMIM:613702 {source="MONDO:equivalentTo"}
xref: UMLS:C3150967 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613702"}
is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/omim/613702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150967

[Term]
id: MONDO:0013376
name: microphthalmia, isolated, with coloboma 6
synonym: "MCOPCB6" RELATED [MONDO:Lexical, OMIM:613703]
synonym: "microphthalmia, isolated, with coloboma 6" EXACT [MONDO:Lexical, OMIM:613703]
synonym: "microphthalmia, isolated, with coloboma 6; MCOPCB6" RELATED [OMIM:613703]
synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1, OMIM:613703]
xref: OMIM:613703 {source="MONDO:equivalentTo"}
xref: UMLS:C3150968 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613703"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/omim/613703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150968

[Term]
id: MONDO:0013377
name: isolated microphthalmia 7
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in GDF3" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 7" EXACT [DOID:0060838, MONDORULE:1]
synonym: "MCOP7" EXACT [DOID:0060838, MONDO:Lexical, OMIM:613704]
synonym: "microphthalmia, isolated 7" RELATED [MONDO:Lexical, OMIM:613704]
synonym: "microphthalmia, isolated 7; MCOP7" RELATED [OMIM:613704]
synonym: "microphthalmia, isolated type 7" EXACT [MONDORULE:1, OMIM:613704]
xref: DOID:0060838 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060838"}
xref: OMIM:613704 {source="MONDO:equivalentTo", source="DOID:0060838"}
xref: UMLS:C3150969 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613704"}
is_a: MONDO:0000062 {source="DC-OMIM:613704", source="MONDO:Redundant", source="MONDOLEX:0013377", source="OMIM:613704"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060838
property_value: exactMatch http://identifiers.org/omim/613704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150969

[Term]
id: MONDO:0013378
name: orofacial cleft 10
def: "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705]
synonym: "OFC10" RELATED [MONDO:Lexical, OMIM:613705]
synonym: "orofacial cleft 10" EXACT [MONDO:Lexical, OMIM:613705]
synonym: "orofacial cleft 10; OFC10" RELATED [OMIM:613705]
synonym: "orofacial cleft caused by mutation in SUMO1" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 10" EXACT [MONDORULE:2, OMIM:613705]
synonym: "SUMO1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C566605 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613705 {source="MONDO:equivalentTo"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:613705"} ! orofacial cleft
is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866070
property_value: exactMatch http://identifiers.org/mesh/C566605
property_value: exactMatch http://identifiers.org/omim/613705

[Term]
id: MONDO:0013379
name: Noonan syndrome 7
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRAF Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 7" EXACT [MONDO:Lexical, OMIM:613706]
synonym: "Noonan syndrome 7; NS7" RELATED [OMIM:613706]
synonym: "Noonan syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 7" EXACT [DOID:0060585, MONDORULE:1, OMIM:613706]
synonym: "NS7" EXACT [DOID:0060585, MONDO:Lexical, OMIM:613706]
xref: DOID:0060585 {source="MONDO:equivalentTo"}
xref: OMIM:613706 {source="DOID:0060585", source="MONDO:equivalentTo"}
xref: UMLS:C3150970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613706"}
is_a: MONDO:0018997 {source="DC-OMIM:613706", source="DOID:0060585", source="MONDO:Redundant", source="OMIM:613706"} ! Noonan syndrome
property_value: exactMatch DOID:0060585
property_value: exactMatch http://identifiers.org/omim/613706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150970

[Term]
id: MONDO:0013380
name: LEOPARD syndrome 3
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRAF Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "leopard syndrome 3" EXACT [MONDO:Lexical, OMIM:613707]
synonym: "LEOPARD syndrome 3; LPRD3" RELATED [OMIM:613707]
synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1, OMIM:613707]
synonym: "LPRD3" RELATED [MONDO:Lexical, OMIM:613707]
synonym: "Noonan syndrome with multiple lentigines caused by mutation in BRAF" EXACT [MONDO:design_pattern]
xref: OMIM:613707 {source="MONDO:equivalentTo"}
xref: UMLS:C3150971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613707"}
is_a: MONDO:0007893 {source="MONDO:Redundant", source="OMIM:613707", source="ORDO:500/btnt"} ! Noonan syndrome with multiple lentigines
property_value: exactMatch http://identifiers.org/omim/613707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150971

[Term]
id: MONDO:0013381
name: neuropathy, hereditary sensory, type 1D
def: "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q." [DOID:0070156]
synonym: "hereditary sensory neuropathy type 1D" RELATED [DOID:0070156]
synonym: "hereditary sensory neuropathy type ID" RELATED [DOID:0070156]
synonym: "HSN1D" EXACT [DOID:0070156, MONDO:Lexical, OMIM:613708]
synonym: "neuropathy, hereditary sensory, type ID" RELATED [MONDO:Lexical, OMIM:613708]
synonym: "neuropathy, hereditary sensory, type ID; HSN1D" RELATED [OMIM:613708]
xref: DOID:0070156 {source="MONDO:equivalentTo"}
xref: OMIM:613708 {source="DOID:0070156", source="MONDO:equivalentTo"}
xref: UMLS:C3150972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613708"}
is_a: MONDO:0018213 {source="DOID:0070156", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
property_value: exactMatch DOID:0070156
property_value: exactMatch http://identifiers.org/omim/613708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150972

[Term]
id: MONDO:0013382
name: progressive demyelinating neuropathy with bilateral striatal necrosis
def: "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." [Orphanet:217396]
subset: ordo_disease {source="Orphanet:217396"}
synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [OMIM:613710]
synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [Orphanet:217396]
synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED [OMIM:613710]
synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710]
synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type); THMD4" RELATED [OMIM:613710]
synonym: "THMD4" RELATED [MONDO:Lexical, OMIM:613710]
xref: OMIM:613710 {source="MONDO:equivalentTo", source="ORDO:217396/e", source="Orphanet:217396"}
xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"}
xref: UMLS:C3150973 {source="OMIM:613710", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000152 {source="DC-OMIM:613710", source="OMIM:613710"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0020127 {source="Orphanet:217396"} ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/613710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150973
property_value: exactMatch Orphanet:217396

[Term]
id: MONDO:0013383
name: Hirschsprung disease, susceptibility to, 3
subset: gard_rare
subset: predisposition
synonym: "GDNF Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in GDNF" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease modifier" RELATED [GARD:0002699]
synonym: "Hirschsprung disease type 3" RELATED [GARD:0002699]
synonym: "Hirschsprung disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613711]
synonym: "Hirschsprung disease, susceptibility to, 3; HSCR3" RELATED [OMIM:613711]
synonym: "Hirschsprung disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613711]
synonym: "HSCR3" RELATED [GARD:0002699, MONDO:Lexical, OMIM:613711]
synonym: "susceptibility to Hirschsprung disease 3" RELATED [OMIM:613711]
xref: GARD:0002699 {source="MONDO:equivalentTo"}
xref: MESH:C538121 {source="MONDO:equivalentTo"}
xref: OMIM:613711 {source="MONDO:equivalentTo"}
xref: UMLS:C2931739 {source="GARD:0002699", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150974
property_value: exactMatch http://identifiers.org/mesh/C538121
property_value: exactMatch http://identifiers.org/omim/613711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931739
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3 xsd:anyURI {source="GARD:0002699"}

[Term]
id: MONDO:0013384
name: Hirschsprung disease, susceptibility to, 4
def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EDN3 Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in EDN3" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613712]
synonym: "Hirschsprung disease, susceptibility to, 4; HSCR4" RELATED [OMIM:613712]
synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:613712]
synonym: "HSCR4" RELATED [MONDO:Lexical, OMIM:613712]
synonym: "susceptibility to Hirschsprung disease 4" RELATED [OMIM:613712]
xref: OMIM:613712 {source="MONDO:equivalentTo"}
is_a: MONDO:0020719 ! susceptibility to Hirschsprung disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150975
property_value: exactMatch http://identifiers.org/omim/613712

[Term]
id: MONDO:0013385
name: Treacher Collins syndrome 2
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "POLR1D Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS2" RELATED [MONDO:Lexical, OMIM:613717]
synonym: "Treacher Collins syndrome 2" EXACT [MONDO:Lexical, OMIM:613717]
synonym: "TREACHER COLLINS syndrome 2; TCS2" RELATED [OMIM:613717]
synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1, OMIM:613717]
synonym: "Treacher-Collins syndrome caused by mutation in POLR1D" EXACT [MONDO:design_pattern]
xref: OMIM:613717 {source="MONDO:equivalentTo"}
xref: UMLS:C3150983 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613717"}
is_a: MONDO:0002457 {source="MONDO:Redundant", source="MONDOLEX:0013385", source="OMIM:613717"} ! Treacher-Collins syndrome
property_value: exactMatch http://identifiers.org/omim/613717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150983

[Term]
id: MONDO:0013386
name: autosomal recessive nonsyndromic deafness 74
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 74" EXACT [DOID:0110523]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 74" EXACT [DOID:0110523, MONDORULE:2]
synonym: "deafness, autosomal recessive 74" RELATED [MONDO:Lexical, OMIM:613718]
synonym: "deafness, autosomal recessive 74; DFNB74" RELATED [OMIM:613718]
synonym: "deafness, autosomal recessive type 74" EXACT [MONDORULE:2, OMIM:613718]
synonym: "DFNB74" EXACT [DOID:0110523, MONDO:Lexical, OMIM:613718]
synonym: "MSRB3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110523 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110523"}
xref: OMIM:613718 {source="DOID:0110523", source="MONDO:equivalentTo"}
xref: UMLS:C2239351 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613718"}
is_a: MONDO:0019588 {source="DC-OMIM:613718", source="DOID:0110523", source="MONDO:Redundant", source="OMIM:613718"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110523
property_value: exactMatch http://identifiers.org/omim/613718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2239351

[Term]
id: MONDO:0013387
name: KCNQ2-related epileptic encephalopathy
def: "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." [Orphanet:439218]
subset: clingen
subset: ordo_disease {source="Orphanet:439218"}
synonym: "EIEE7" RELATED [MONDO:Lexical, OMIM:613720]
synonym: "epileptic encephalopathy, early infantile, 7" RELATED [MONDO:Lexical, OMIM:613720]
synonym: "epileptic encephalopathy, early infantile, 7; EIEE7" RELATED [OMIM:613720]
synonym: "epileptic encephalopathy, early infantile, type 7" EXACT [MONDORULE:1, OMIM:613720]
synonym: "KCNQ2-NEE" EXACT [Orphanet:439218]
synonym: "KCNQ2-related disorders" RELATED [GARD:0013060]
synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [Orphanet:439218]
xref: GARD:0013060 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G40.4 {source="Orphanet:439218", source="ORDO:439218/attributed", source="ORDO:439218/ntbt"}
xref: OMIM:613720 {source="Orphanet:439218", source="ORDO:439218/e", source="MONDO:equivalentTo"}
xref: Orphanet:439218 {source="MONDO:equivalentTo"}
xref: UMLS:C3150986 {source="NCBI:mim2gene_medline", source="OMIM:613720", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:613720", source="OMIM:613720"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/613720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150986
property_value: exactMatch Orphanet:439218

[Term]
id: MONDO:0013388
name: epileptic encephalopathy, early infantile, 11
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern]
synonym: "EIEE11" RELATED [MONDO:Lexical, OMIM:613721]
synonym: "epileptic encephalopathy, early infantile, 11" EXACT [MONDO:Lexical, OMIM:613721]
synonym: "epileptic encephalopathy, early infantile, 11; EIEE11" RELATED [OMIM:613721]
synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2, OMIM:613721]
synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613721 {source="MONDO:equivalentTo"}
xref: UMLS:C3150987 {source="OMIM:613721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/613721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150987

[Term]
id: MONDO:0013389
name: epileptic encephalopathy, early infantile, 12
def: "Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12]
subset: gard_rare {source="GARD:0013318"}
synonym: "early infantile epileptic encephalopathy 12" RELATED [GARD:0013318]
synonym: "early infantile epileptic encephalopathy caused by mutation in PLCB1" EXACT [MONDO:design_pattern]
synonym: "EIEE12" RELATED [MONDO:Lexical, OMIM:613722]
synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, OMIM:613722]
synonym: "epileptic encephalopathy, early infantile, 12; EIEE12" RELATED [OMIM:613722]
synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722]
synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0013318 {source="MONDO:equivalentTo"}
xref: OMIM:613722 {source="MONDO:equivalentTo"}
xref: UMLS:C3150988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613722"}
is_a: MONDO:0016021 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/613722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150988
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 xsd:anyURI {source="GARD:0013318"}

[Term]
id: MONDO:0013390
name: autosomal recessive limb-girdle muscular dystrophy type 2Q
def: "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." [Orphanet:254361]
subset: ordo_disease {source="Orphanet:254361"}
synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285, Orphanet:254361]
synonym: "LGMD2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723, Orphanet:254361]
synonym: "limb-girdle muscular dystrophy type 2Q" RELATED [GARD:0012542]
synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723]
synonym: "muscular dystrophy, limb-girdle, type 2Q; LGMD2Q" RELATED [OMIM:613723]
xref: DOID:0110285 {source="MONDO:equivalentTo"}
xref: GARD:0012542 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110285", source="ORDO:254361/attributed", source="ORDO:254361/ntbt", source="Orphanet:254361"}
xref: OMIM:613723 {source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361", source="ORDO:254361/e"}
xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source="DOID:0110285"}
xref: UMLS:C3150989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613723"}
is_a: MONDO:0015152 {source="DOID:0110285", source="MONDOLEX:0013390", source="OMIM:613723", source="Orphanet:254361"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016198 {source="Orphanet:254361"} ! qualitative or quantitative defects of plectin
property_value: exactMatch DOID:0110285
property_value: exactMatch http://identifiers.org/omim/613723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150989
property_value: exactMatch Orphanet:254361

[Term]
id: MONDO:0013391
name: leukoencephalopathy-dystonia-motor neuropathy syndrome
def: "Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." [Orphanet:163684]
subset: ordo_disease {source="Orphanet:163684"}
synonym: "leukoencephalopathy - dystonia - motor neuropathy" RELATED [GARD:0012471]
synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [OMIM:613724]
synonym: "leukoencephalopathy with dystonia and motor neuropathy; LKDMN" RELATED [OMIM:613724]
synonym: "LKDMN" RELATED [OMIM:613724]
synonym: "sterol carrier Protein 2 deficiency" RELATED [OMIM:613724]
xref: GARD:0012471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E75.2 {source="ORDO:163684/attributed", source="ORDO:163684/ntbt", source="Orphanet:163684"}
xref: OMIM:613724 {source="ORDO:163684/e", source="MONDO:equivalentTo", source="Orphanet:163684"}
xref: Orphanet:163684 {source="MONDO:equivalentTo", source="OMIM:613724"}
xref: UMLS:C3150990 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613724"}
is_a: MONDO:0019046 {source="Orphanet:163684"} ! leukodystrophy
is_a: MONDO:0019233 {source="Orphanet:163684"} ! peroxisomal beta-oxidation disorder
property_value: exactMatch http://identifiers.org/omim/613724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150990
property_value: exactMatch Orphanet:163684

[Term]
id: MONDO:0013392
name: autosomal recessive spinocerebellar ataxia 10
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:284289"}
synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289]
synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive cerebellar ataxia caused by mutation in ANO10" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [DOID:0050999, MONDORULE:2, Orphanet:284289]
synonym: "SCAR10" EXACT [DOID:0050999, MONDO:Lexical, OMIM:613728, Orphanet:284289]
synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728]
synonym: "spinocerebellar ataxia, autosomal recessive 10; SCAR10" RELATED [OMIM:613728]
synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728]
xref: DOID:0050999 {source="MONDO:equivalentTo"}
xref: ICD10:G11.2 {source="ORDO:284289/attributed", source="ORDO:284289/ntbt", source="Orphanet:284289"}
xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="ORDO:284289/e", source="DOID:0050999"}
xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"}
xref: UMLS:C3150998 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613728"}
is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch DOID:0050999
property_value: exactMatch http://identifiers.org/omim/613728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150998
property_value: exactMatch Orphanet:284289

[Term]
id: MONDO:0013393
name: distal 7q11.23 microdeletion syndrome
def: "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." [Orphanet:254351]
subset: ordo_malformation_syndrome {source="Orphanet:254351"}
synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [OMIM:613729]
synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729]
synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351]
synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351]
xref: ICD10:Q93.5 {source="Orphanet:254351", source="ORDO:254351/attributed", source="ORDO:254351/ntbt"}
xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="ORDO:254351/e"}
xref: Orphanet:254351 {source="MONDO:equivalentTo", source="OMIM:613729"}
xref: UMLS:C3150999 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613729"}
is_a: MONDO:0000761 {source="DC-OMIM:613729"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016906 {source="MONDOLEX:0013393", source="Orphanet:254351"} ! partial deletion of the long arm of chromosome 7
property_value: exactMatch http://identifiers.org/omim/613729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150999
property_value: exactMatch Orphanet:254351

[Term]
id: MONDO:0013394
name: porencephaly-microcephaly-bilateral congenital cataract syndrome
subset: ordo_malformation_syndrome {source="Orphanet:306547"}
synonym: "HDBSCC" RELATED [MONDO:Lexical, OMIM:613730]
synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730]
synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts; HDBSCC" RELATED [OMIM:613730]
xref: OMIM:613730 {source="Orphanet:306547", source="ORDO:306547/e", source="MONDO:equivalentTo"}
xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"}
xref: UMLS:C3151000 {source="OMIM:613730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:306547"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:306547", source="Orphanet:306547/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/613730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151000
property_value: exactMatch Orphanet:306547

[Term]
id: MONDO:0013395
name: retinitis pigmentosa 4
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010405"}
synonym: "retinitis pigmentosa 4" EXACT [MONDO:Lexical, OMIM:613731]
synonym: "retinitis pigmentosa 4; RP4" RELATED [OMIM:613731]
synonym: "retinitis pigmentosa caused by mutation in RHO" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 4" EXACT [DOID:0110372, MONDORULE:1, OMIM:613731]
synonym: "retinitis pigmentosa, rhodopsin-related" RELATED [OMIM:613731]
synonym: "RHO retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RP 4" RELATED [GARD:0010405]
synonym: "RP4" EXACT [DOID:0110372, MONDO:Lexical, OMIM:613731]
xref: DOID:0110372 {source="MONDO:equivalentTo"}
xref: GARD:0010405 {source="MONDO:equivalentTo"}
xref: HGNC:10012 {source="GARD:0010405"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110372"}
xref: MESH:C566706 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613731 {source="MONDO:equivalentTo", source="DOID:0110372"}
xref: UMLS:C3151001 {source="NCBI:mim2gene_medline", source="OMIM:613731", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613731", source="DOID:0110372", source="MESH:C566706", source="MONDO:Redundant", source="OMIM:613731"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867176
property_value: exactMatch DOID:0110372
property_value: exactMatch http://identifiers.org/mesh/C566706
property_value: exactMatch http://identifiers.org/omim/613731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4 xsd:anyURI {source="GARD:0010405"}

[Term]
id: MONDO:0013396
name: chromosome 1p32-p31 deletion syndrome
def: "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." [Orphanet:401986]
subset: ordo_malformation_syndrome {source="Orphanet:401986"}
synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409]
synonym: "brain malformations with or without urinary tract defects" RELATED [OMIM:613735]
synonym: "brain malformations with or without urinary tract defects; BRMUTD" RELATED [OMIM:613735]
synonym: "BRMUTD" RELATED [OMIM:613735]
synonym: "chromosome 1p32-p31 deletion syndrome" EXACT [OMIM:613735]
synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986]
synonym: "monosomy 1p31p32" EXACT [Orphanet:401986]
xref: DOID:0060409 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:401986", source="ORDO:401986/attributed", source="ORDO:401986/ntbt", source="DOID:0060409"}
xref: OMIM:613735 {source="ORDO:401986/e", source="Orphanet:401986", source="MONDO:equivalentTo", source="DOID:0060409"}
xref: Orphanet:401986 {source="MONDO:equivalentTo", source="OMIM:613735", source="DOID:0060409"}
xref: SCTID:766766005 {source="MONDO:equivalentTo"}
xref: UMLS:C3151036 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613735"}
xref: UMLS:CN226149 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613735", source="DOID:0060409"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016883 {source="MONDOLEX:0013396", source="Orphanet:401986"} ! partial deletion of the short arm of chromosome 1
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:401986"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060409
property_value: exactMatch http://identifiers.org/omim/613735
property_value: exactMatch http://identifiers.org/snomedct/766766005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226149
property_value: exactMatch Orphanet:401986

[Term]
id: MONDO:0013397
name: acne inversa, familial, 2
def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acne inversa, familial, 2" EXACT [MONDO:Lexical, OMIM:613736]
synonym: "acne inversa, familial, 2, with or without Dowling-Degos disease" RELATED [OMIM:613736]
synonym: "acne inversa, familial, 2, with or without Dowling-Degos disease; ACNINV2" RELATED [OMIM:613736]
synonym: "acne inversa, familial, 2; ACNINV2" RELATED [OMIM:613736]
synonym: "acne inversa, familial, type 2" EXACT [MONDORULE:1, OMIM:613736]
synonym: "ACNINV2" RELATED [MONDO:Lexical, OMIM:613736]
synonym: "familial acne inversa caused by mutation in PSENEN" EXACT [MONDO:design_pattern]
synonym: "PSENEN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613736 {source="MONDO:equivalentTo"}
xref: UMLS:C3151037 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613736"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="MONDOLEX:0013397", source="OMIM:613736"} ! familial acne inversa
property_value: closeMatch Orphanet:387
property_value: exactMatch http://identifiers.org/omim/613736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151037

[Term]
id: MONDO:0013398
name: acne inversa, familial, 3
def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acne inversa, familial, 3" EXACT [MONDO:Lexical, OMIM:613737]
synonym: "acne inversa, familial, 3; ACNINV3" RELATED [OMIM:613737]
synonym: "acne inversa, familial, type 3" EXACT [MONDORULE:1, OMIM:613737]
synonym: "ACNINV3" RELATED [MONDO:Lexical, OMIM:613737]
synonym: "familial acne inversa caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "PSEN1 familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613737 {source="MONDO:equivalentTo"}
xref: UMLS:C3151038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613737"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="MONDOLEX:0013398", source="OMIM:613737"} ! familial acne inversa
property_value: closeMatch Orphanet:387
property_value: exactMatch http://identifiers.org/omim/613737
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151038

[Term]
id: MONDO:0013399
name: obsolete cardiomyopathy, dilated, 1T
is_obsolete: true
replaced_by: MONDO:0000911

[Term]
id: MONDO:0013400
name: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
def: "CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis." [NCIT:C131422]
subset: ordo_disease {source="Orphanet:168558"}
synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [Orphanet:168558]
synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [Orphanet:168558]
synonym: "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" EXACT [DOID:0050546, OMIM:613743]
synonym: "cholesterol side-chain Cleavage deficiency" EXACT [NCIT:C131422]
synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743]
synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558]
synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558]
xref: DOID:0050546 {source="MONDO:equivalentTo"}
xref: ICD10:Q56.1 {source="ORDO:168558/attributed", source="ORDO:168558/ntbt", source="Orphanet:168558"}
xref: MESH:C566130 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131422 {source="MONDO:equivalentTo"}
xref: OMIM:613743 {source="DOID:0050546", source="MONDO:equivalentTo", source="Orphanet:168558", source="ORDO:168558/e"}
xref: Orphanet:168558 {source="OMIM:613743", source="MONDO:equivalentTo"}
xref: UMLS:C3151055 {source="OMIM:613743", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015129 {source="Orphanet:168558", source="Orphanet:168558/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0019595 {source="Orphanet:168558"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
property_value: exactMatch DOID:0050546
property_value: exactMatch http://identifiers.org/mesh/C566130
property_value: exactMatch http://identifiers.org/omim/613743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151055
property_value: exactMatch NCIT:C131422
property_value: exactMatch Orphanet:168558

[Term]
id: MONDO:0013401
name: hereditary spastic paraplegia 51
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803]
synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744]
synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [OMIM:613744]
synonym: "CPSQ4" EXACT [DOID:0110803]
synonym: "hereditary spastic paraplegia caused by mutation in AP4E1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 51" EXACT [DOID:0110803, MONDORULE:2]
synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613744]
synonym: "spastic paraplegia 51, autosomal recessive; SPG51" RELATED [OMIM:613744]
synonym: "spastic quadriplegic cerebral palsy 4" EXACT [DOID:0110803]
synonym: "SPG51" EXACT [DOID:0110803, MONDO:Lexical, OMIM:613744]
xref: DOID:0110803 {source="MONDO:equivalentTo"}
xref: GARD:0010999 {source="MONDO:equivalentTo"}
xref: OMIM:613744 {source="MONDO:equivalentTo", source="DOID:0110803"}
xref: UMLS:C3151056 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613744"}
is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia
is_a: MONDO:0100176 ! AP-4 deficiency syndrome
property_value: exactMatch DOID:0110803
property_value: exactMatch http://identifiers.org/omim/613744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151056

[Term]
id: MONDO:0013402
name: retinitis pigmentosa 27
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NRL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [OMIM:613750]
synonym: "retinitis pigmentosa 27" EXACT [MONDO:Lexical, OMIM:613750]
synonym: "retinitis pigmentosa 27; RP27" RELATED [OMIM:613750]
synonym: "retinitis pigmentosa caused by mutation in NRL" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 27" EXACT [DOID:0110397, MONDORULE:2, OMIM:613750]
synonym: "RP27" EXACT [DOID:0110397, MONDO:Lexical, OMIM:613750]
xref: DOID:0110397 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110397"}
xref: MESH:C563526 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613750 {source="MONDO:equivalentTo", source="DOID:0110397"}
xref: UMLS:C1834329 {source="OMIM:613750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613750", source="DOID:0110397", source="MESH:C563526", source="MONDO:Redundant", source="OMIM:613750"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110397
property_value: exactMatch http://identifiers.org/mesh/C563526
property_value: exactMatch http://identifiers.org/omim/613750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834329

[Term]
id: MONDO:0013403
name: heterotaxy, visceral, 4, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACVR2B visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "heterotaxy, visceral, 4, autosomal" EXACT [MONDO:Lexical, OMIM:613751]
synonym: "heterotaxy, visceral, 4, autosomal; HTX4" RELATED [OMIM:613751]
synonym: "HTX4" RELATED [MONDO:Lexical, OMIM:613751]
synonym: "visceral heterotaxy caused by mutation in ACVR2B" EXACT [MONDO:design_pattern]
xref: OMIM:613751 {source="MONDO:equivalentTo"}
xref: UMLS:C3151057 {source="OMIM:613751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:613751", source="MONDO:Redundant", source="MONDOLEX:0013403", source="OMIM:613751"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/omim/613751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151057

[Term]
id: MONDO:0013404
name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
def: "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." [Orphanet:88618]
subset: ordo_disease {source="Orphanet:88618"}
synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039, Orphanet:88618]
synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [OMIM:613752]
synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039]
xref: DOID:0111039 {source="MONDO:equivalentTo"}
xref: GARD:0013177 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E72.1 {source="DOID:0111039", source="ORDO:88618/attributed", source="ORDO:88618/ntbt", source="Orphanet:88618"}
xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="ORDO:88618/e", source="Orphanet:88618"}
xref: Orphanet:88618 {source="DOID:0111039", source="OMIM:613752", source="MONDO:equivalentTo"}
xref: SCTID:724039002 {source="MONDO:equivalentTo"}
xref: UMLS:C3151058 {source="OMIM:613752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88618", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4510276 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! disorder of methionine catabolism
is_a: MONDO:0000508 {source="Orphanet:88618"} ! syndromic intellectual disability
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0111039
property_value: exactMatch http://identifiers.org/omim/613752
property_value: exactMatch http://identifiers.org/snomedct/724039002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510276
property_value: exactMatch Orphanet:88618

[Term]
id: MONDO:0013405
name: retinitis pigmentosa 49
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CNGA1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 49" EXACT [MONDO:Lexical, OMIM:613756]
synonym: "retinitis pigmentosa 49; RP49" RELATED [OMIM:613756]
synonym: "retinitis pigmentosa caused by mutation in CNGA1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 49" EXACT [DOID:0110377, MONDORULE:2, OMIM:613756]
synonym: "RP49" EXACT [DOID:0110377, MONDO:Lexical, OMIM:613756]
xref: DOID:0110377 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110377"}
xref: OMIM:613756 {source="MONDO:equivalentTo", source="DOID:0110377"}
xref: UMLS:C3151059 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613756"}
is_a: MONDO:0019200 {source="DC-OMIM:613756", source="DOID:0110377", source="MONDO:Redundant", source="OMIM:613756"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110377
property_value: exactMatch http://identifiers.org/omim/613756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151059

[Term]
id: MONDO:0013406
name: age related macular degeneration 6
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 6" EXACT [DOID:0110018, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in RAX2" EXACT [MONDO:design_pattern]
synonym: "ARMD6" EXACT [DOID:0110018, MONDO:Lexical, OMIM:613757]
synonym: "macular degeneration, age-related, 6" RELATED [MONDO:Lexical, OMIM:613757]
synonym: "macular degeneration, age-related, 6; ARMD6" RELATED [OMIM:613757]
synonym: "macular Degeneration, age-related, type 6" EXACT [MONDORULE:1, OMIM:613757]
synonym: "RAX2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110018 {source="MONDO:equivalentTo"}
xref: MESH:C563674 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613757 {source="DOID:0110018", source="MONDO:equivalentTo"}
xref: UMLS:C3151060 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613757"}
is_a: MONDO:0005150 {source="DC-OMIM:613757", source="DOID:0110018", source="MONDO:Redundant", source="OMIM:613757"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110018
property_value: exactMatch http://identifiers.org/mesh/C563674
property_value: exactMatch http://identifiers.org/omim/613757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151060

[Term]
id: MONDO:0013407
name: retinitis pigmentosa 47
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 47" EXACT [MONDO:Lexical, OMIM:613758]
synonym: "retinitis pigmentosa 47; RP47" RELATED [OMIM:613758]
synonym: "retinitis pigmentosa caused by mutation in SAG" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 47" EXACT [DOID:0110369, MONDORULE:2, OMIM:613758]
synonym: "RP47" EXACT [DOID:0110369, MONDO:Lexical, OMIM:613758]
synonym: "SAG retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110369 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110369", source="MONDO:relatedTo"}
xref: OMIM:613758 {source="DOID:0110369", source="MONDO:equivalentTo"}
xref: UMLS:C3151061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613758"}
is_a: MONDO:0019200 {source="DC-OMIM:613758", source="DOID:0110369", source="MONDO:Redundant", source="OMIM:613758"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110369
property_value: exactMatch http://identifiers.org/omim/613758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151061

[Term]
id: MONDO:0013408
name: FADD-related immunodeficiency
def: "gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." [Orphanet:306550]
subset: ordo_disease {source="Orphanet:306550"}
synonym: "Fadd deficiency" RELATED [OMIM:613759]
synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759]
xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="ORDO:306550/e"}
xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"}
xref: SCTID:723334006 {source="MONDO:equivalentTo"}
xref: UMLS:C3151062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613759"}
xref: UMLS:C4509831 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015709 {source="Orphanet:306550"} ! immunodeficiency syndrome with autoimmunity
property_value: exactMatch http://identifiers.org/omim/613759
property_value: exactMatch http://identifiers.org/snomedct/723334006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509831
property_value: exactMatch Orphanet:306550

[Term]
id: MONDO:0013409
name: age related macular degeneration 5
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 5" EXACT [DOID:0110028, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "ARMD5" EXACT [DOID:0110028, MONDO:Lexical, OMIM:613761]
synonym: "ERCC6 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 5" RELATED [MONDO:Lexical, OMIM:613761]
synonym: "macular degeneration, age-related, 5; ARMD5" RELATED [OMIM:613761]
synonym: "macular Degeneration, age-related, type 5" EXACT [MONDORULE:1, OMIM:613761]
xref: DOID:0110028 {source="MONDO:equivalentTo"}
xref: OMIM:613761 {source="DOID:0110028", source="MONDO:equivalentTo"}
xref: UMLS:C3151063 {source="OMIM:613761", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="DC-OMIM:613761", source="DOID:0110028", source="MONDO:Redundant", source="OMIM:613761"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110028
property_value: exactMatch http://identifiers.org/omim/613761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151063

[Term]
id: MONDO:0013410
name: 46,XY sex reversal 6
synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [OMIM:613762]
synonym: "46,XY sex reversal 6" EXACT [MONDO:Lexical, OMIM:613762]
synonym: "46,XY SEX reversal 6; SRXY6" RELATED [OMIM:613762]
synonym: "46,XY Sex reversal type 6" EXACT [MONDORULE:1, OMIM:613762]
synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [OMIM:613762]
synonym: "SRXY6" RELATED [MONDO:Lexical, OMIM:613762]
xref: OMIM:613762 {source="MONDO:equivalentTo"}
xref: UMLS:C3151064 {source="OMIM:613762", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MONDOLEX:0013410", source="OMIM:613762", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/613762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151064

[Term]
id: MONDO:0013411
name: cataract 16 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical, OMIM:613763]
synonym: "cataract 16, multiple types; CTRCT16" RELATED [OMIM:613763]
synonym: "cataract, congenital lamellar" RELATED [OMIM:613763]
synonym: "cataract, posterior polar, 2" RELATED [OMIM:613763]
synonym: "CRYAB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTPP2" NARROW [DOID:0110250]
synonym: "CTRCT16" EXACT [DOID:0110250, MONDO:Lexical, OMIM:613763]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
synonym: "posterior polar cataract 2" NARROW [DOID:0110250]
xref: DOID:0110250 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110250"}
xref: MESH:C565134 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613763 {source="MONDO:equivalentTo", source="DOID:0110250"}
is_a: MONDO:0020379 {source="ORDO:98995/btnt"} ! early-onset zonular cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266537
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151065
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808377
property_value: exactMatch DOID:0110250
property_value: exactMatch http://identifiers.org/mesh/C565134
property_value: exactMatch http://identifiers.org/omim/613763

[Term]
id: MONDO:0013412
name: hypertrophic cardiomyopathy 9
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [DOID:0110315, MONDO:Lexical, OMIM:613765]
synonym: "cardiomyopathy, familial hypertrophic, 9; CMH9" RELATED [OMIM:613765]
synonym: "cardiomyopathy, familial hypertrophic, type 9" EXACT [MONDORULE:1, OMIM:613765]
synonym: "CMH9" EXACT [DOID:0110315, MONDO:Lexical, OMIM:613765]
synonym: "hypertrophic cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 9" EXACT [DOID:0110315, MONDORULE:1]
synonym: "TTN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110315 {source="MONDO:equivalentTo"}
xref: MESH:C566044 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613765 {source="DOID:0110315", source="MONDO:equivalentTo"}
xref: UMLS:C1861065 {source="OMIM:613765", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MESH:C566044", source="MONDOLEX:0013412", source="OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110315
property_value: exactMatch http://identifiers.org/mesh/C566044
property_value: exactMatch http://identifiers.org/omim/613765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861065

[Term]
id: MONDO:0013413
name: retinitis pigmentosa 45
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CNGB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 45" EXACT [MONDO:Lexical, OMIM:613767]
synonym: "retinitis pigmentosa 45; RP45" RELATED [OMIM:613767]
synonym: "retinitis pigmentosa caused by mutation in CNGB1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 45" EXACT [DOID:0110402, MONDORULE:2, OMIM:613767]
synonym: "RP45" EXACT [DOID:0110402, MONDO:Lexical, OMIM:613767]
xref: DOID:0110402 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110402", source="MONDO:relatedTo"}
xref: OMIM:613767 {source="DOID:0110402", source="MONDO:equivalentTo"}
xref: UMLS:C3151066 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613767"}
is_a: MONDO:0019200 {source="DC-OMIM:613767", source="DOID:0110402", source="MONDO:Redundant", source="OMIM:613767"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110402
property_value: exactMatch http://identifiers.org/omim/613767
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151066

[Term]
id: MONDO:0013414
name: retinitis pigmentosa 44
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 44" EXACT [MONDO:Lexical, OMIM:613769]
synonym: "retinitis pigmentosa 44; RP44" RELATED [OMIM:613769]
synonym: "retinitis pigmentosa caused by mutation in RGR" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 44" EXACT [DOID:0110394, MONDORULE:2, OMIM:613769]
synonym: "RGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RP44" EXACT [DOID:0110394, MONDO:Lexical, OMIM:613769]
xref: DOID:0110394 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110394"}
xref: OMIM:613769 {source="MONDO:equivalentTo", source="DOID:0110394"}
xref: UMLS:C3151068 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613769"}
is_a: MONDO:0019200 {source="DC-OMIM:613769", source="DOID:0110394", source="MONDO:Redundant", source="OMIM:613769"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110394
property_value: exactMatch http://identifiers.org/omim/613769
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151068

[Term]
id: MONDO:0013415
name: chromosome 17p13.1 deletion syndrome
synonym: "17p13.1 deletion syndrome" RELATED [GARD:0010996]
synonym: "chromosome 17p13.1 deletion syndrome" EXACT [OMIM:613776]
xref: DOID:0060402 {source="MONDO:equivalentTo"}
xref: GARD:0010996 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:613776 {source="DOID:0060402", source="MONDO:equivalentTo"}
xref: UMLS:C3151069 {source="OMIM:613776", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613776", source="DOID:0060402"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch DOID:0060402
property_value: exactMatch http://identifiers.org/omim/613776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151069

[Term]
id: MONDO:0013416
name: age related macular degeneration 8
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 8" EXACT [DOID:0110020, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in ARMS2" EXACT [MONDO:design_pattern]
synonym: "ARMD8" EXACT [DOID:0110020, MONDO:Lexical, OMIM:613778]
synonym: "ARMS2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 8" RELATED [MONDO:Lexical, OMIM:613778]
synonym: "macular degeneration, age-related, 8; ARMD8" RELATED [OMIM:613778]
synonym: "macular Degeneration, age-related, type 8" EXACT [MONDORULE:1, OMIM:613778]
xref: DOID:0110020 {source="MONDO:equivalentTo"}
xref: OMIM:613778 {source="MONDO:equivalentTo", source="DOID:0110020"}
xref: UMLS:C3151070 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613778"}
is_a: MONDO:0005150 {source="DC-OMIM:613778", source="DOID:0110020", source="MONDO:Redundant", source="OMIM:613778"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110020
property_value: exactMatch http://identifiers.org/omim/613778
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151070

[Term]
id: MONDO:0013417
name: complement component 3 deficiency
def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." [NCIT:P378]
subset: ordo_disease {source="Orphanet:280133"}
synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133]
synonym: "C3 deficiency, autosomal recessive" RELATED [OMIM:613779]
synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779]
synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern]
synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779]
synonym: "complement component 3 deficiency, autosomal recessive; C3d" RELATED [OMIM:613779]
xref: DOID:8354 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="ORDO:280133/attributed", source="ORDO:280133/ntbt", source="Orphanet:280133"}
xref: MESH:C565169 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C9468 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:8354"}
xref: OMIM:613779 {source="MONDO:equivalentTo", source="Orphanet:280133", source="ORDO:280133/e", source="DOID:8354"}
xref: Orphanet:280133 {source="MONDO:equivalentTo", source="OMIM:613779", source="DOID:8354"}
xref: UMLS:C1332655 {source="NCIT:C9468", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c96", source="DOID:8354"}
xref: UMLS:C3151071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280133", source="OMIM:613779", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000015 {source="DC-OMIM:613779", source="MONDO:Redundant"} ! classic complement early component deficiency
property_value: exactMatch DOID:8354
property_value: exactMatch http://identifiers.org/mesh/C565169
property_value: exactMatch http://identifiers.org/omim/613779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151071
property_value: exactMatch NCIT:C9468
property_value: exactMatch Orphanet:280133

[Term]
id: MONDO:0013418
name: aortic aneurysm, familial thoracic 7
synonym: "AAT7" RELATED [MONDO:Lexical, OMIM:613780]
synonym: "aortic aneurysm, familial thoracic 7" EXACT [MONDO:Lexical, OMIM:613780]
synonym: "aortic aneurysm, familial thoracic 7; AAT7" RELATED [OMIM:613780]
synonym: "aortic aneurysm, familial thoracic type 7" EXACT [MONDORULE:1, OMIM:613780]
synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED [OMIM:613780]
xref: OMIM:613780 {source="MONDO:equivalentTo"}
xref: UMLS:C3151077 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613780"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:613780", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/omim/613780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151077

[Term]
id: MONDO:0013419
name: complement component C1s deficiency
def: "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." [PMID:11390518]
synonym: "C1s deficiency" RELATED [OMIM:613783]
synonym: "C1SD" RELATED [MONDO:Lexical, OMIM:613783]
synonym: "complement component C1s deficiency" EXACT [MONDO:Lexical, OMIM:613783]
synonym: "complement component C1s deficiency; C1SD" RELATED [OMIM:613783]
xref: MESH:C565170 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613783 {source="MONDO:equivalentTo"}
xref: UMLS:C3151078 {source="OMIM:613783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000015 {source="DC-OMIM:613783"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: exactMatch http://identifiers.org/mesh/C565170
property_value: exactMatch http://identifiers.org/omim/613783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151078

[Term]
id: MONDO:0013420
name: age related macular degeneration 12
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 12" EXACT [DOID:0110024, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CX3CR1" EXACT [MONDO:design_pattern]
synonym: "ARMD12" EXACT [DOID:0110024, MONDO:Lexical, OMIM:613784]
synonym: "CX3CR1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 12" RELATED [MONDO:Lexical, OMIM:613784]
synonym: "macular degeneration, age-related, 12; ARMD12" RELATED [OMIM:613784]
synonym: "macular Degeneration, age-related, type 12" EXACT [MONDORULE:2, OMIM:613784]
xref: DOID:0110024 {source="MONDO:equivalentTo"}
xref: OMIM:613784 {source="MONDO:equivalentTo", source="DOID:0110024"}
xref: UMLS:C3151079 {source="OMIM:613784", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 {source="DC-OMIM:613784", source="DOID:0110024", source="MONDO:Redundant", source="OMIM:613784"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110024
property_value: exactMatch http://identifiers.org/omim/613784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151079

[Term]
id: MONDO:0013421
name: type II complement component 8 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010625"}
synonym: "C8 Beta deficiency" RELATED [OMIM:613789]
synonym: "C8 deficiency type II" RELATED [GARD:0010625]
synonym: "C8 deficiency, type 2" RELATED [OMIM:613789]
synonym: "C8B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C8B deficiency" RELATED [OMIM:613789]
synonym: "C8D2" RELATED [MONDO:Lexical, OMIM:613789]
synonym: "classic complement early component deficiency caused by mutation in C8B" EXACT [MONDO:design_pattern]
synonym: "complement component 8 deficiency type 2" RELATED [GARD:0010625]
synonym: "complement component 8 deficiency type II" RELATED [GARD:0010625]
synonym: "complement component 8 deficiency, type 2" RELATED [OMIM:613789]
synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical, OMIM:613789]
synonym: "complement component 8 deficiency, type II; C8D2" RELATED [OMIM:613789]
synonym: "complement component 8B deficiency" RELATED [OMIM:613789]
synonym: "Human complement C8-beta deficiency" RELATED [GARD:0010625]
xref: DOID:0060302 {source="MONDO:equivalentTo"}
xref: GARD:0010625 {source="MONDO:equivalentTo"}
xref: HGNC:1353 {source="GARD:0010625"}
xref: ICD10:D84.1 {source="DOID:0060302"}
xref: OMIM:613789 {source="MONDO:equivalentTo", source="DOID:0060302"}
xref: UMLS:C3151080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613789"}
is_a: MONDO:0000015 {source="DC-OMIM:613789", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: exactMatch DOID:0060302
property_value: exactMatch http://identifiers.org/omim/613789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151080
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2 xsd:anyURI {source="GARD:0010625"}

[Term]
id: MONDO:0013422
name: type i complement component 8 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010626"}
synonym: "C8 Alpha-gamma deficiency" RELATED [OMIM:613790]
synonym: "C8 deficiency type I" RELATED [GARD:0010626]
synonym: "C8 deficiency, type 1" RELATED [OMIM:613790]
synonym: "C81 deficiency" RELATED [GARD:0010626]
synonym: "C8A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C8Ag deficiency" RELATED [OMIM:613790]
synonym: "C8D1" RELATED [MONDO:Lexical, OMIM:613790]
synonym: "classic complement early component deficiency caused by mutation in C8A" EXACT [MONDO:design_pattern]
synonym: "complement component 8 deficiency type 1" RELATED [GARD:0010626]
synonym: "complement component 8 deficiency type I" RELATED [GARD:0010626]
synonym: "complement component 8 deficiency, type 1" RELATED [OMIM:613790]
synonym: "complement component 8 deficiency, type I" RELATED [MONDO:Lexical, OMIM:613790]
synonym: "complement component 8 deficiency, type I; C8D1" RELATED [OMIM:613790]
xref: DOID:0060301 {source="MONDO:equivalentTo"}
xref: GARD:0010626 {source="MONDO:equivalentTo"}
xref: HGNC:1352 {source="GARD:0010626"}
xref: ICD10:D84.1 {source="DOID:0060301"}
xref: OMIM:613790 {source="DOID:0060301", source="MONDO:equivalentTo"}
xref: UMLS:C3151081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613790"}
is_a: MONDO:0000015 {source="DC-OMIM:613790", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: exactMatch DOID:0060301
property_value: exactMatch http://identifiers.org/omim/613790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151081
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1 xsd:anyURI {source="GARD:0010626"}

[Term]
id: MONDO:0013423
name: immunodeficiency due to MASP-2 deficiency
def: "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." [Orphanet:331187]
subset: ordo_disease {source="Orphanet:331187"}
synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791]
synonym: "MASP2 deficiency" RELATED [OMIM:613791]
xref: ICD10:D84.1 {source="Orphanet:331187", source="ORDO:331187/attributed", source="ORDO:331187/ntbt"}
xref: MESH:C565360 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613791 {source="Orphanet:331187", source="ORDO:331187/e", source="MONDO:equivalentTo"}
xref: Orphanet:331187 {source="MONDO:equivalentTo", source="OMIM:613791"}
xref: UMLS:C3151085 {source="Orphanet:331187", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613791"}
is_a: MONDO:0044209 {source="OMIM:613791"} ! disorder of lectin complement activation pathway
property_value: exactMatch http://identifiers.org/mesh/C565360
property_value: exactMatch http://identifiers.org/omim/613791
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151085
property_value: exactMatch Orphanet:331187

[Term]
id: MONDO:0013424
name: 3p- syndrome
def: "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." [Orphanet:1620]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1620"}
synonym: "3p deletion" RELATED [GARD:0000037]
synonym: "3p monosomy" RELATED [GARD:0000037]
synonym: "3p- syndrome" EXACT [OMIM:613792, Orphanet:1620]
synonym: "chromosome 3, monosomy 3p25" RELATED [GARD:0003750]
synonym: "chromosome 3p deletion" RELATED [GARD:0000037]
synonym: "chromosome 3p- syndrome" RELATED [GARD:0003750]
synonym: "chromosome 3pter-p25 deletion syndrome" EXACT [DOID:0060417, OMIM:613792]
synonym: "Del(3p) syndrome" RELATED [GARD:0003750]
synonym: "del(3p25)" EXACT [NCIT:C41377]
synonym: "deletion 3p" RELATED [GARD:0000037]
synonym: "deletion 3p25" RELATED [GARD:0003750]
synonym: "distal 3p deletion" EXACT [Orphanet:1620]
synonym: "distal monosomy 3p" EXACT [DOID:0060417]
synonym: "distal monosomy type 3p" EXACT [MONDORULE:4, Orphanet:1620]
synonym: "monosomy 3p" RELATED [GARD:0000037]
synonym: "monosomy 3pter" EXACT [Orphanet:1620]
synonym: "partial monosomy 3p" RELATED [GARD:0000037]
synonym: "telomeric monosomy 3p" EXACT [Orphanet:1620]
xref: DOID:0060417 {source="MONDO:equivalentTo"}
xref: GARD:0000037 {source="MONDO:equivalentTo"}
xref: GARD:0003750 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:1620", source="ORDO:1620/attributed", source="ORDO:1620/ntbt", source="DOID:0060417"}
xref: MESH:C536804 {source="MONDO:equivalentTo"}
xref: NCIT:C41377 {source="MONDO:equivalentTo"}
xref: OMIM:613792 {source="Orphanet:1620", source="ORDO:1620/e", source="MONDO:equivalentTo", source="DOID:0060417"}
xref: Orphanet:1620 {source="MONDO:equivalentTo", source="DOID:0060417", source="OMIM:613792"}
xref: SCTID:763528002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:613792", source="DOID:0060417"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016885 {source="Orphanet:1620"} ! partial deletion of the short arm of chromosome 3
is_a: MONDO:0017393 {source="Orphanet:1620"} ! blepharophimosis - intellectual disability syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795806
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931337
property_value: exactMatch DOID:0060417
property_value: exactMatch http://identifiers.org/mesh/C536804
property_value: exactMatch http://identifiers.org/omim/613792
property_value: exactMatch http://identifiers.org/snomedct/763528002
property_value: exactMatch NCIT:C41377
property_value: exactMatch Orphanet:1620

[Term]
id: MONDO:0013425
name: retinitis pigmentosa 20
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010404"}
synonym: "retinitis pigmentosa 20" EXACT [MONDO:Lexical, OMIM:613794]
synonym: "retinitis pigmentosa 20; RP20" RELATED [OMIM:613794]
synonym: "retinitis pigmentosa caused by mutation in RPE65" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 20" EXACT [DOID:0110353, MONDORULE:2, OMIM:613794]
synonym: "RP 20" RELATED [GARD:0010404]
synonym: "RP20" EXACT [DOID:0110353, MONDO:Lexical, OMIM:613794]
synonym: "RPE65 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110353 {source="MONDO:equivalentTo"}
xref: GARD:0010404 {source="MONDO:equivalentTo"}
xref: HGNC:10294 {source="GARD:0010404"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110353"}
xref: MESH:C566718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613794 {source="MONDO:equivalentTo", source="DOID:0110353"}
xref: UMLS:C3151086 {source="OMIM:613794", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613794", source="DOID:0110353", source="MESH:C566718", source="MONDO:Redundant", source="OMIM:613794"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867316
property_value: exactMatch DOID:0110353
property_value: exactMatch http://identifiers.org/mesh/C566718
property_value: exactMatch http://identifiers.org/omim/613794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151086
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20 xsd:anyURI {source="GARD:0010404"}

[Term]
id: MONDO:0013426
name: aneurysm-osteoarthritis syndrome
subset: clingen
subset: ordo_disease {source="Orphanet:284984"}
synonym: "aneurysm - osteoarthritis syndrome" RELATED [GARD:0010997]
synonym: "aneurysms-osteoarthritis syndrome" RELATED [OMIM:613795]
synonym: "LDS3" RELATED [MONDO:Lexical, OMIM:613795]
synonym: "Loeys-Dietz syndrome 3" RELATED [MONDO:Lexical, OMIM:613795]
synonym: "Loeys-Dietz syndrome 3; LDS3" RELATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome type 3" EXACT [MONDORULE:1, OMIM:613795]
synonym: "Loeys-Dietz syndrome with osteoarthritis" RELATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 1C" RELATED DEPRECATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 1C (formerly)" RELATED DEPRECATED [GARD:0010997]
synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997]
xref: DOID:0070237 {source="MONDO:equivalentTo"}
xref: GARD:0010997 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="ORDO:284984/e"}
xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"}
xref: UMLS:C3151087 {source="OMIM:613795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018954 {source="DC-OMIM:613795", source="MONDOLEX:0013426", source="OMIM:613795"} ! Loeys-Dietz syndrome
property_value: exactMatch DOID:0070237
property_value: exactMatch http://identifiers.org/omim/613795
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151087
property_value: exactMatch Orphanet:284984

[Term]
id: MONDO:0013427
name: immunodeficiency 31B
subset: ordo_disease {source="Orphanet:391311"}
synonym: "IMD31B" RELATED [MONDO:Lexical, OMIM:613796]
synonym: "immunodeficiency 31B" RELATED [MONDO:Lexical, OMIM:613796]
synonym: "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" RELATED [OMIM:613796]
synonym: "immunodeficiency 31B; IMD31B" RELATED [OMIM:613796]
synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4, OMIM:613796]
synonym: "STAT1 deficiency" EXACT [Orphanet:391311]
synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796]
synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311]
xref: ICD10:D84.8 {source="ORDO:391311/attributed", source="ORDO:391311/ntbt", source="Orphanet:391311"}
xref: OMIM:613796 {source="MONDO:equivalentTo", source="ORDO:391311/e", source="Orphanet:391311"}
xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"}
xref: UMLS:C3151088 {source="OMIM:613796", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015979 {source="Orphanet:391311"} ! hereditary predisposition to infections
property_value: exactMatch http://identifiers.org/omim/613796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151088
property_value: exactMatch Orphanet:391311

[Term]
id: MONDO:0013428
name: Meier-Gorlin syndrome 2
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 2" EXACT [MONDO:Lexical, OMIM:613800]
synonym: "Meier-GORLIN syndrome 2; MGORS2" RELATED [OMIM:613800]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC4" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1, OMIM:613800]
synonym: "MGORS2" RELATED [MONDO:Lexical, OMIM:613800]
synonym: "ORC4 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613800 {source="MONDO:equivalentTo"}
xref: UMLS:C3151097 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613800"}
is_a: MONDO:0016817 {source="DC-OMIM:613800", source="MONDO:Redundant", source="OMIM:613800"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/613800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151097

[Term]
id: MONDO:0013429
name: retinitis pigmentosa 40
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PDE6B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 40" EXACT [MONDO:Lexical, OMIM:613801]
synonym: "retinitis pigmentosa 40; RP40" RELATED [OMIM:613801]
synonym: "retinitis pigmentosa caused by mutation in PDE6B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 40" EXACT [DOID:0110375, MONDORULE:2, OMIM:613801]
synonym: "RP40" EXACT [DOID:0110375, MONDO:Lexical, OMIM:613801]
xref: DOID:0110375 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110375"}
xref: OMIM:613801 {source="MONDO:equivalentTo", source="DOID:0110375"}
xref: UMLS:C3151107 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613801"}
is_a: MONDO:0019200 {source="DC-OMIM:613801", source="DOID:0110375", source="MONDO:Redundant", source="OMIM:613801"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110375
property_value: exactMatch http://identifiers.org/omim/613801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151107

[Term]
id: MONDO:0013430
name: Meier-Gorlin syndrome 3
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 3" EXACT [MONDO:Lexical, OMIM:613803]
synonym: "Meier-GORLIN syndrome 3; MGORS3" RELATED [OMIM:613803]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC6" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1, OMIM:613803]
synonym: "MGORS3" RELATED [MONDO:Lexical, OMIM:613803]
synonym: "ORC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613803 {source="MONDO:equivalentTo"}
xref: UMLS:C3151113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613803"}
is_a: MONDO:0016817 {source="DC-OMIM:613803", source="MONDO:Redundant", source="OMIM:613803"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/613803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151113

[Term]
id: MONDO:0013431
name: Meier-Gorlin syndrome 4
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDT1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 4" EXACT [MONDO:Lexical, OMIM:613804]
synonym: "Meier-GORLIN syndrome 4; MGORS4" RELATED [OMIM:613804]
synonym: "Meier-Gorlin syndrome caused by mutation in CDT1" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1, OMIM:613804]
synonym: "MGORS4" RELATED [MONDO:Lexical, OMIM:613804]
xref: OMIM:613804 {source="MONDO:equivalentTo"}
xref: UMLS:C3151120 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613804"}
is_a: MONDO:0016817 {source="DC-OMIM:613804", source="MONDO:Redundant", source="OMIM:613804"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/613804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151120

[Term]
id: MONDO:0013432
name: Meier-Gorlin syndrome 5
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 5" EXACT [MONDO:Lexical, OMIM:613805]
synonym: "Meier-GORLIN syndrome 5; MGORS5" RELATED [OMIM:613805]
synonym: "Meier-Gorlin syndrome caused by mutation in CDC6" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1, OMIM:613805]
synonym: "MGORS5" RELATED [MONDO:Lexical, OMIM:613805]
xref: OMIM:613805 {source="MONDO:equivalentTo"}
xref: UMLS:C3151126 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613805"}
is_a: MONDO:0016817 {source="DC-OMIM:613805", source="MONDO:Redundant", source="OMIM:613805"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/613805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151126

[Term]
id: MONDO:0013433
name: primary sclerosing cholangitis
def: "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." [Orphanet:171]
subset: ordo_disease {source="Orphanet:171"}
synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical, OMIM:613806]
synonym: "cholangitis, primary sclerosing; PSC" RELATED [OMIM:613806]
synonym: "PSC" EXACT [MONDO:Lexical, OMIM:613806, Orphanet:171]
xref: DOID:0060643 {source="MONDO:equivalentTo"}
xref: GARD:0001280 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="ORDO:171/ntbt", source="Orphanet:171", source="DOID:0060643"}
xref: MedDRA:10036732 {source="ORDO:171/e", source="Orphanet:171"}
xref: OMIM:613806 {source="ORDO:171/e", source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643"}
xref: Orphanet:171 {source="MONDO:equivalentTo", source="DOID:0060643", source="OMIM:613806"}
xref: SCTID:197441003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0566602 {source="NCBI:mim2gene_medline", source="ORDO:171/e", source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643", source="OMIM:613806"}
is_a: MONDO:0018646 {source="DOID:0060643", source="MONDOLEX:0013433", source="Orphanet:171", source="linkedlifedata"} ! sclerosing cholangitis (disease)
property_value: exactMatch DOID:0060643
property_value: exactMatch http://identifiers.org/meddra/10036732
property_value: exactMatch http://identifiers.org/mesh/C536419
property_value: exactMatch http://identifiers.org/omim/613806
property_value: exactMatch http://identifiers.org/snomedct/197441003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0566602
property_value: exactMatch Orphanet:171

[Term]
id: MONDO:0013434
name: primary ciliary dyskinesia 14
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC39 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD14" EXACT [DOID:0110598, MONDO:Lexical, OMIM:613807]
synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical, OMIM:613807]
synonym: "ciliary dyskinesia, primary, 14, with or without situs inversus" RELATED [OMIM:613807]
synonym: "ciliary dyskinesia, primary, 14; CILD14" RELATED [OMIM:613807]
synonym: "ciliary dyskinesia, primary, type 14" EXACT [MONDORULE:2, OMIM:613807]
synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [DOID:0110598]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC39" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 14" EXACT [DOID:0110598, MONDORULE:2]
xref: DOID:0110598 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110598"}
xref: OMIM:613807 {source="MONDO:equivalentTo", source="DOID:0110598"}
xref: UMLS:C3151136 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613807"}
is_a: MONDO:0016575 {source="DC-OMIM:613807", source="DOID:0110598", source="MONDO:Redundant", source="MONDOLEX:0013434", source="OMIM:613807"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110598
property_value: exactMatch http://identifiers.org/omim/613807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151136

[Term]
id: MONDO:0013435
name: primary ciliary dyskinesia 15
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC40 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD15" EXACT [DOID:0110623, MONDO:Lexical, OMIM:613808]
synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical, OMIM:613808]
synonym: "ciliary dyskinesia, primary, 15, with or without situs inversus" RELATED [OMIM:613808]
synonym: "ciliary dyskinesia, primary, 15; CILD15" RELATED [OMIM:613808]
synonym: "ciliary dyskinesia, primary, type 15" EXACT [MONDORULE:2, OMIM:613808]
synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [DOID:0110623]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC40" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 15" EXACT [DOID:0110623, MONDORULE:2]
xref: DOID:0110623 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110623"}
xref: OMIM:613808 {source="DOID:0110623", source="MONDO:equivalentTo"}
xref: UMLS:C3151137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613808"}
is_a: MONDO:0016575 {source="DC-OMIM:613808", source="DOID:0110623", source="MONDO:Redundant", source="MONDOLEX:0013435", source="OMIM:613808"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110623
property_value: exactMatch http://identifiers.org/omim/613808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151137

[Term]
id: MONDO:0013436
name: retinitis pigmentosa 39
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 39" EXACT [MONDO:Lexical, OMIM:613809]
synonym: "retinitis pigmentosa 39; RP39" RELATED [OMIM:613809]
synonym: "retinitis pigmentosa caused by mutation in USH2A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 39" EXACT [DOID:0110360, MONDORULE:2, OMIM:613809]
synonym: "RP39" EXACT [DOID:0110360, MONDO:Lexical, OMIM:613809]
synonym: "USH2A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110360 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110360"}
xref: OMIM:613809 {source="MONDO:equivalentTo", source="DOID:0110360"}
xref: UMLS:C3151138 {source="OMIM:613809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613809", source="DOID:0110360", source="MONDO:Redundant", source="OMIM:613809"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110360
property_value: exactMatch http://identifiers.org/omim/613809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151138

[Term]
id: MONDO:0013437
name: retinitis pigmentosa 43
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PDE6A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 43" EXACT [MONDO:Lexical, OMIM:613810]
synonym: "retinitis pigmentosa 43; RP43" RELATED [OMIM:613810]
synonym: "retinitis pigmentosa caused by mutation in PDE6A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 43" EXACT [DOID:0110379, MONDORULE:2, OMIM:613810]
synonym: "RP43" EXACT [DOID:0110379, MONDO:Lexical, OMIM:613810]
xref: DOID:0110379 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110379", source="MONDO:relatedTo"}
xref: OMIM:613810 {source="DOID:0110379", source="MONDO:equivalentTo"}
xref: UMLS:C3151139 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613810"}
is_a: MONDO:0019200 {source="DC-OMIM:613810", source="DOID:0110379", source="MONDO:Redundant", source="OMIM:613810"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110379
property_value: exactMatch http://identifiers.org/omim/613810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151139

[Term]
id: MONDO:0013438
name: pontocerebellar hypoplasia type 2D
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebello-cerebral atrophy, progressive" RELATED [OMIM:613811]
synonym: "Cerebellocerebral atrophy, progressive" RELATED [OMIM:613811]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS" EXACT [MONDO:design_pattern]
synonym: "PCH2D" RELATED [MONDO:Lexical, OMIM:613811]
synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical, OMIM:613811]
synonym: "pontocerebellar hypoplasia, type 2D; PCH2D" RELATED [OMIM:613811]
synonym: "SEPSECS non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060270 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="DOID:0060270"}
xref: OMIM:613811 {source="MONDO:equivalentTo", source="DOID:0060270"}
xref: UMLS:C3151140 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613811"}
is_a: MONDO:0016759 {source="MONDOLEX:0013438", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2
property_value: exactMatch DOID:0060270
property_value: exactMatch http://identifiers.org/omim/613811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151140

[Term]
id: MONDO:0013439
name: congenital bile acid synthesis defect 3
def: "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease." [Orphanet:79302]
subset: ordo_disease {source="Orphanet:79302"}
synonym: "BASD3" EXACT [Orphanet:79302]
synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMIM:613812]
synonym: "bile acid synthesis defect, congenital, 3; CBAS3" RELATED [OMIM:613812]
synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1, OMIM:613812]
synonym: "CBAS3" EXACT [DOID:0111070, MONDO:Lexical, OMIM:613812]
synonym: "congenital bile acid synthesis defect caused by mutation in CYP7B1" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MONDORULE:1]
synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302]
xref: DOID:0111070 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="DOID:0111070", source="ORDO:79302/attributed", source="ORDO:79302/ntbt", source="Orphanet:79302"}
xref: MESH:C566340 {source="DOID:0111070", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79302/e", source="Orphanet:79302"}
xref: OMIM:613812 {source="DOID:0111070", source="MONDO:equivalentTo", source="ORDO:79302/e", source="Orphanet:79302"}
xref: Orphanet:79302 {source="DOID:0111070", source="MONDO:equivalentTo", source="OMIM:613812"}
xref: SCTID:719454003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3151147 {source="DOID:0111070", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613812", source="ORDO:79302/e", source="Orphanet:79302"}
xref: UMLS:C4304715 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018841 {source="DC-OMIM:613812", source="DOID:0111070", source="MONDO:Redundant", source="OMIM:613812", source="Orphanet:79302"} ! congenital bile acid synthesis defect
property_value: exactMatch DOID:0111070
property_value: exactMatch http://identifiers.org/mesh/C566340
property_value: exactMatch http://identifiers.org/omim/613812
property_value: exactMatch http://identifiers.org/snomedct/719454003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304715
property_value: exactMatch Orphanet:79302

[Term]
id: MONDO:0013440
name: autosomal recessive limb-girdle muscular dystrophy type 2P
def: "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." [Orphanet:280333]
subset: ordo_disease {source="Orphanet:280333"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" EXACT [MONDO:design_pattern]
synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2P" EXACT [DOID:0110293, Orphanet:280333]
synonym: "limb-girdle muscular dystrophy type 2P" RELATED [GARD:0012541]
synonym: "MDDGC9" EXACT [DOID:0110293, MONDO:Lexical, OMIM:613818]
synonym: "muscular dystrophy, limb-girdle, type 2P" RELATED [OMIM:613818]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [DOID:0110293]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATED [MONDO:Lexical, OMIM:613818]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; MDDGC9" RELATED [OMIM:613818]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [DOID:0110293]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818]
xref: DOID:0110293 {source="MONDO:equivalentTo"}
xref: GARD:0012541 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:280333/attributed", source="ORDO:280333/ntbt", source="DOID:0110293", source="Orphanet:280333"}
xref: OMIM:613818 {source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333", source="ORDO:280333/e"}
xref: Orphanet:280333 {source="DOID:0110293", source="MONDO:equivalentTo", source="OMIM:613818"}
xref: UMLS:C3151184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613818"}
is_a: MONDO:0000173 {source="DC-OMIM:613818", source="OMIM:613818"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110293", source="MONDO:Redundant", source="MONDOLEX:0013440", source="OMIM:613818", source="Orphanet:280333"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0018283 {source="Orphanet:280333"} ! primary qualitative or quantitative defects of alpha-dystroglycan
is_a: MONDO:0018286 {source="Orphanet:280333"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch DOID:0110293
property_value: exactMatch http://identifiers.org/omim/613818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151184
property_value: exactMatch Orphanet:280333

[Term]
id: MONDO:0013441
name: asphyxiating thoracic dystrophy 4
def: "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." [DOID:0110088, PMID:21258341]
synonym: "asphyxiating thoracic dystrophy 4" EXACT [OMIM:613819]
synonym: "asphyxiating thoracic dystrophy type 4" EXACT [DOID:0110088, MONDORULE:1]
synonym: "ATD4" EXACT [DOID:0110088]
synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [DOID:0110088, MONDO:Lexical, OMIM:613819]
synonym: "short-rib thoracic dysplasia 4 with or without polydactyly; SRTD4" RELATED [OMIM:613819]
synonym: "SRTD4" EXACT [DOID:0110088, MONDO:Lexical, OMIM:613819]
xref: DOID:0110088 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110088"}
xref: OMIM:613819 {source="MONDO:equivalentTo", source="DOID:0110088"}
xref: UMLS:C3151185 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613819"}
is_a: MONDO:0018770 {source="DOID:0110088", source="OMIM:613819"} ! Jeune syndrome
property_value: exactMatch DOID:0110088
property_value: exactMatch http://identifiers.org/omim/613819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151185

[Term]
id: MONDO:0013442
name: nephronophthisis 12
def: "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "Joubert syndrome 11" RELATED [OMIM:613820]
synonym: "nephronophthisis (disease) caused by mutation in TTC21B" EXACT []
synonym: "nephronophthisis 12" EXACT [MONDO:Lexical, OMIM:613820]
synonym: "nephronophthisis 12; NPHP12" RELATED [OMIM:613820]
synonym: "nephronophthisis type 12" EXACT [DOID:0111119, MONDORULE:2, OMIM:613820]
synonym: "NPHP12" EXACT [DOID:0111119, MONDO:Lexical, OMIM:613820]
synonym: "TTC21B nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111119 {source="MONDO:equivalentTo"}
xref: OMIM:613820 {source="DOID:0111119", source="MONDO:equivalentTo"}
xref: UMLS:C3151186 {source="OMIM:613820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:613820", source="DOID:0111119", source="MONDO:Redundant", source="OMIM:613820"} ! nephronophthisis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279203
property_value: exactMatch DOID:0111119
property_value: exactMatch http://identifiers.org/omim/613820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151186

[Term]
id: MONDO:0013443
name: Seckel syndrome 5
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP152 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL5" EXACT [DOID:0070012, MONDO:Lexical, OMIM:613823]
synonym: "Seckel syndrome 5" EXACT [MONDO:Lexical, OMIM:613823]
synonym: "Seckel syndrome 5; SCKL5" RELATED [OMIM:613823]
synonym: "Seckel syndrome caused by mutation in CEP152" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1, OMIM:613823]
xref: DOID:0070012 {source="MONDO:equivalentTo"}
xref: OMIM:613823 {source="DOID:0070012", source="MONDO:equivalentTo"}
xref: UMLS:C3151187 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613823"}
is_a: MONDO:0019342 {source="DC-OMIM:613823", source="DOID:0070012", source="MONDO:Redundant", source="MONDOLEX:0013443", source="OMIM:613823"} ! Seckel syndrome
property_value: exactMatch DOID:0070012
property_value: exactMatch http://identifiers.org/omim/613823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151187

[Term]
id: MONDO:0013444
name: nephronophthisis 9
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NEK8 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in NEK8" EXACT []
synonym: "nephronophthisis 9" EXACT [MONDO:Lexical, OMIM:613824]
synonym: "nephronophthisis 9; NPHP9" RELATED [OMIM:613824]
synonym: "nephronophthisis type 9" EXACT [DOID:0111120, MONDORULE:1, OMIM:613824]
synonym: "NPHP9" EXACT [DOID:0111120, MONDO:Lexical, OMIM:613824]
xref: DOID:0111120 {source="MONDO:equivalentTo"}
xref: OMIM:613824 {source="MONDO:equivalentTo", source="DOID:0111120"}
xref: UMLS:C3151188 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613824"}
is_a: MONDO:0019005 {source="DC-OMIM:613824", source="DOID:0111120", source="MONDO:Redundant", source="OMIM:613824"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111120
property_value: exactMatch http://identifiers.org/omim/613824
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151188

[Term]
id: MONDO:0013445
name: complement component 9 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C9 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C9 deficiency" RELATED [OMIM:613825]
synonym: "C9D" RELATED [MONDO:Lexical, OMIM:613825]
synonym: "classic complement early component deficiency caused by mutation in C9" EXACT [MONDO:design_pattern]
synonym: "complement component 9 deficiency" EXACT [MONDO:Lexical, OMIM:613825]
synonym: "complement component 9 deficiency; C9D" RELATED [OMIM:613825]
xref: DOID:0060303 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060303"}
xref: MESH:C565165 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613825 {source="DOID:0060303", source="MONDO:equivalentTo"}
xref: UMLS:C3151189 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613825"}
is_a: MONDO:0000015 {source="DC-OMIM:613825", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
property_value: exactMatch DOID:0060303
property_value: exactMatch http://identifiers.org/mesh/C565165
property_value: exactMatch http://identifiers.org/omim/613825
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151189

[Term]
id: MONDO:0013446
name: Leber congenital amaurosis 6
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010490"}
synonym: "LCA6" EXACT [DOID:0110329, MONDO:Lexical, OMIM:613826]
synonym: "Leber congenital amaurosis 6" EXACT [MONDO:Lexical, OMIM:613826]
synonym: "Leber congenital amaurosis 6; LCA6" RELATED [OMIM:613826]
synonym: "Leber congenital amaurosis caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 6" EXACT [DOID:0110329, MONDORULE:1, OMIM:613826]
synonym: "RPGRIP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110329 {source="MONDO:equivalentTo"}
xref: GARD:0010490 {source="MONDO:equivalentTo"}
xref: HGNC:13436 {source="GARD:0010490"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110329"}
xref: MESH:C565327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613826 {source="DOID:0110329", source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="DC-OMIM:613826", source="DOID:0110329", source="MESH:C565327", source="MONDO:Redundant", source="OMIM:613826"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854260
property_value: exactMatch DOID:0110329
property_value: exactMatch http://identifiers.org/mesh/C565327
property_value: exactMatch http://identifiers.org/omim/613826
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6 xsd:anyURI {source="GARD:0010490"}

[Term]
id: MONDO:0013447
name: retinitis pigmentosa 48
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GUCA1B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 48" EXACT [MONDO:Lexical, OMIM:613827]
synonym: "retinitis pigmentosa 48; RP48" RELATED [OMIM:613827]
synonym: "retinitis pigmentosa caused by mutation in GUCA1B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 48" EXACT [DOID:0110382, MONDORULE:2, OMIM:613827]
synonym: "RP48" EXACT [DOID:0110382, MONDO:Lexical, OMIM:613827]
xref: DOID:0110382 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110382"}
xref: OMIM:613827 {source="MONDO:equivalentTo", source="DOID:0110382"}
xref: UMLS:C3151190 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613827"}
is_a: MONDO:0019200 {source="DC-OMIM:613827", source="DOID:0110382", source="MONDO:Redundant", source="OMIM:613827"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110382
property_value: exactMatch http://identifiers.org/omim/613827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151190

[Term]
id: MONDO:0013448
name: GEFSP8
synonym: "Gefs+, type 8" RELATED [OMIM:613828]
synonym: "GEFSP8" EXACT [MONDO:Lexical, OMIM:613828]
synonym: "generalized epilepsy with febrile seizures plus, type 8" RELATED [MONDO:Lexical, OMIM:613828]
synonym: "generalized epilepsy with febrile seizures plus, type 8; GEFSP8" RELATED [OMIM:613828]
xref: OMIM:613828 {source="MONDO:equivalentTo"}
xref: UMLS:C3151191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613828"}
is_a: MONDO:0018214 {source="DC-OMIM:613828", source="OMIM:613828"} ! generalized epilepsy with febrile seizures plus
property_value: exactMatch http://identifiers.org/omim/613828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151191

[Term]
id: MONDO:0013449
name: Leber congenital amaurosis 7
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010880"}
synonym: "CRX Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA7" EXACT [DOID:0110333, MONDO:Lexical, OMIM:613829]
synonym: "Leber congenital amaurosis 7" EXACT [MONDO:Lexical, OMIM:613829]
synonym: "Leber congenital amaurosis 7; LCA7" RELATED [OMIM:613829]
synonym: "Leber congenital amaurosis caused by mutation in CRX" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 7" EXACT [DOID:0110333, MONDORULE:1, OMIM:613829]
xref: DOID:0110333 {source="MONDO:equivalentTo"}
xref: GARD:0010880 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110333"}
xref: OMIM:613829 {source="MONDO:equivalentTo", source="DOID:0110333"}
xref: UMLS:C3151192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613829"}
is_a: MONDO:0018998 {source="DC-OMIM:613829", source="DOID:0110333", source="MONDO:Redundant", source="OMIM:613829"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110333
property_value: exactMatch http://identifiers.org/omim/613829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151192
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7 xsd:anyURI {source="GARD:0010880"}

[Term]
id: MONDO:0013450
name: congenital stationary night blindness 1D
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [DOID:0110868]
synonym: "congenital stationary night blindness caused by mutation in SLC24A1" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1D" EXACT [DOID:0110868, MONDORULE:4]
synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:613830]
synonym: "CSNB1D" EXACT [DOID:0110868, MONDO:Lexical, OMIM:613830]
synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical, OMIM:613830]
synonym: "night blindness, congenital stationary, type 1D; CSNB1D" RELATED [OMIM:613830]
synonym: "SLC24A1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110868 {source="MONDO:equivalentTo"}
xref: OMIM:613830 {source="DOID:0110868", source="MONDO:equivalentTo"}
xref: UMLS:C3151193 {source="NCBI:mim2gene_medline", source="OMIM:613830", source="MONDO:equivalentTo"}
is_a: MONDO:0016293 {source="DC-OMIM:613830", source="DOID:0110868", source="MONDO:Redundant", source="MONDOLEX:0013450", source="OMIM:613830"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110868
property_value: exactMatch http://identifiers.org/omim/613830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151193

[Term]
id: MONDO:0013451
name: progressive myoclonic epilepsy type 5
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:402082"}
synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical, OMIM:613832]
synonym: "epilepsy, progressive myoclonic, 5; EPM5" RELATED [OMIM:613832]
synonym: "epilepsy, progressive myoclonic, type 5" EXACT [MONDORULE:1, OMIM:613832]
synonym: "EPM5" EXACT [MONDO:Lexical, OMIM:613832, Orphanet:402082]
synonym: "moved to {607459}" RELATED [OMIM:613832]
synonym: "PME type 5" EXACT [Orphanet:402082]
synonym: "PRICKLE2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonus epilepsy type 5" EXACT [Orphanet:402082]
xref: ICD10:G40.3 {source="ORDO:402082/attributed", source="ORDO:402082/ntbt", source="Orphanet:402082"}
xref: OMIM:613832 {source="ORDO:402082/e", source="MONDO:equivalentTo", source="Orphanet:402082"}
xref: Orphanet:402082 {source="MONDO:equivalentTo", source="OMIM:613832"}
xref: UMLS:CN226157 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020074 {source="DC-OMIM:613832", source="MONDO:Redundant", source="Orphanet:402082"} ! progressive myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151194
property_value: exactMatch http://identifiers.org/omim/613832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226157
property_value: exactMatch Orphanet:402082

[Term]
id: MONDO:0013452
name: multisystemic smooth muscle dysfunction syndrome
def: "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis ). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." [https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome]
subset: gard_rare {source="GARD:0012811"}
subset: ordo_disease {source="Orphanet:404463"}
synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [GARD:0012811]
synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834]
synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834]
xref: GARD:0012811 {source="MONDO:equivalentTo"}
xref: ICD10:I73.8 {source="ORDO:404463/attributed", source="ORDO:404463/ntbt", source="Orphanet:404463"}
xref: OMIM:613834 {source="MONDO:equivalentTo", source="Orphanet:404463", source="ORDO:404463/e"}
xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"}
xref: UMLS:C3151201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613834"}
is_a: MONDO:0015953 {source="Orphanet:404463"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0017311 {source="Orphanet:404463"} ! rare disease with thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0021145 {source="MONDO:Redundant", source="Orphanet:404463"} ! disease of genitourinary system
is_a: MONDO:0021189 {source="Orphanet:404463"} ! intestinal motility disease
property_value: exactMatch http://identifiers.org/omim/613834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151201
property_value: exactMatch Orphanet:404463
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome xsd:anyURI {source="GARD:0012811"}

[Term]
id: MONDO:0013453
name: Leber congenital amaurosis 8
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010881"}
synonym: "CRB1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA8" EXACT [DOID:0110079, MONDO:Lexical, OMIM:613835]
synonym: "Leber congenital amaurosis 8" EXACT [MONDO:Lexical, OMIM:613835]
synonym: "Leber congenital amaurosis 8; LCA8" RELATED [OMIM:613835]
synonym: "Leber congenital amaurosis caused by mutation in CRB1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 8" EXACT [DOID:0110079, MONDORULE:1, OMIM:613835]
xref: DOID:0110079 {source="MONDO:equivalentTo"}
xref: GARD:0010881 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110079"}
xref: OMIM:613835 {source="MONDO:equivalentTo", source="DOID:0110079"}
xref: UMLS:C3151202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613835"}
is_a: MONDO:0018998 {source="DC-OMIM:613835", source="DOID:0110079", source="MONDO:Redundant", source="OMIM:613835"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110079
property_value: exactMatch http://identifiers.org/omim/613835
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8 xsd:anyURI {source="GARD:0010881"}

[Term]
id: MONDO:0013454
name: Leber congenital amaurosis 11
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010488"}
synonym: "amaurosis congenita of Leber, type 11" RELATED [GARD:0010488]
synonym: "IMPDH1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA11" EXACT [DOID:0110216, MONDO:Lexical, OMIM:613837]
synonym: "Leber congenital amaurosis 11" EXACT [MONDO:Lexical, OMIM:613837]
synonym: "Leber congenital amaurosis 11; LCA11" RELATED [OMIM:613837]
synonym: "Leber congenital amaurosis caused by mutation in IMPDH1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 11" EXACT [DOID:0110216, MONDORULE:2, OMIM:613837]
xref: DOID:0110216 {source="MONDO:equivalentTo"}
xref: GARD:0010488 {source="MONDO:equivalentTo"}
xref: HGNC:6052 {source="GARD:0010488"}
xref: ICD10:H35.5 {source="DOID:0110216", source="MONDO:relatedTo"}
xref: MESH:C564140 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613837 {source="DOID:0110216", source="MONDO:equivalentTo"}
xref: UMLS:C1840284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613837"}
is_a: MONDO:0018998 {source="DC-OMIM:613837", source="DOID:0110216", source="MESH:C564140", source="MONDO:Redundant", source="OMIM:613837"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110216
property_value: exactMatch http://identifiers.org/mesh/C564140
property_value: exactMatch http://identifiers.org/omim/613837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840284
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11 xsd:anyURI {source="GARD:0010488"}

[Term]
id: MONDO:0013455
name: hypertrophic cardiomyopathy 16
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 16" EXACT [DOID:0110322]
synonym: "cardiomyopathy, familial hypertrophic, 16" RELATED [MONDO:Lexical, OMIM:613838]
synonym: "cardiomyopathy, familial hypertrophic, 16; CMH16" RELATED [OMIM:613838]
synonym: "cardiomyopathy, familial hypertrophic, type 16" EXACT [MONDORULE:2, OMIM:613838]
synonym: "CMH16" EXACT [DOID:0110322, MONDO:Lexical, OMIM:613838]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYOZ2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 16" EXACT [DOID:0110322, MONDORULE:2]
synonym: "MYOZ2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110322 {source="MONDO:equivalentTo"}
xref: OMIM:613838 {source="MONDO:equivalentTo", source="DOID:0110322"}
xref: UMLS:C3151204 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613838"}
is_a: MONDO:0024573 {source="MONDOLEX:0013455", source="OMIM", source="OMIM:613838"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110322
property_value: exactMatch http://identifiers.org/omim/613838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151204

[Term]
id: MONDO:0013456
name: constitutional megaloblastic anemia with severe neurologic disease
subset: ordo_disease {source="Orphanet:319651"}
synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651]
synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651]
synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839]
xref: GARD:0011000 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D52.8 {source="ORDO:319651/attributed", source="ORDO:319651/ntbt", source="Orphanet:319651"}
xref: MESH:C565095 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="ORDO:319651/e"}
xref: Orphanet:319651 {source="MONDO:equivalentTo", source="OMIM:613839"}
xref: SCTID:124178006 {source="MONDO:kboom-pr-1.00/0.78/6.60", source="MONDO:equivalentTo"}
is_a: MONDO:0016406 {source="Orphanet:319651"} ! other metabolic disease with epilepsy
is_a: MONDO:0017313 {source="Orphanet:319651"} ! disorder of folate metabolism and transport
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0020111 {source="Orphanet:319651"} ! constitutional megaloblastic anemia due to folate metabolism disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151205
property_value: exactMatch http://identifiers.org/mesh/C565095
property_value: exactMatch http://identifiers.org/omim/613839
property_value: exactMatch http://identifiers.org/snomedct/124178006
property_value: exactMatch Orphanet:319651

[Term]
id: MONDO:0013457
name: Leber congenital amaurosis 15
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010884"}
synonym: "LCA15" EXACT [DOID:0110189, MONDO:Lexical, OMIM:613843]
synonym: "Leber congenital amaurosis 15" EXACT [MONDO:Lexical, OMIM:613843]
synonym: "Leber congenital amaurosis 15; LCA15" RELATED [OMIM:613843]
synonym: "Leber congenital amaurosis caused by mutation in TULP1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 15" EXACT [DOID:0110189, MONDORULE:2, OMIM:613843]
synonym: "retinitis pigmentosa, juvenile, Tulp1-related" RELATED [OMIM:613843]
synonym: "TULP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110189 {source="MONDO:equivalentTo"}
xref: GARD:0010884 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110189"}
xref: OMIM:613843 {source="MONDO:equivalentTo", source="DOID:0110189"}
xref: UMLS:C3151206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613843"}
is_a: MONDO:0018998 {source="DC-OMIM:613843", source="DOID:0110189", source="MONDO:Redundant", source="OMIM:613843"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110189
property_value: exactMatch http://identifiers.org/omim/613843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151206
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15 xsd:anyURI {source="GARD:0010884"}

[Term]
id: MONDO:0013458
name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
subset: ordo_disease {source="Orphanet:363694"}
synonym: "HUPRA syndrome" EXACT [Orphanet:363694]
synonym: "Hupra syndrome" RELATED [OMIM:613845]
synonym: "HUPRAS" RELATED [MONDO:Lexical, OMIM:613845]
synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845]
synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome; HUPRAS" RELATED [OMIM:613845]
xref: ICD10:N15.8 {source="Orphanet:363694", source="ORDO:363694/attributed", source="ORDO:363694/ntbt"}
xref: OMIM:613845 {source="Orphanet:363694", source="ORDO:363694/e", source="MONDO:equivalentTo"}
xref: Orphanet:363694 {source="MONDO:equivalentTo", source="OMIM:613845"}
xref: UMLS:C3151209 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613845"}
is_a: MONDO:0015512 ! genetic hypertension
is_a: MONDO:0015962 {source="Orphanet:363694"} ! inherited renal tubular disease
is_a: MONDO:0017159 {source="Orphanet:363694"} ! syndrome with pulmonary hypertension as a major feature
is_a: MONDO:0018157 {source="Orphanet:363694"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019744 {source="Orphanet:363694"} ! rare renal tubular disease
property_value: exactMatch http://identifiers.org/omim/613845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151209
property_value: exactMatch Orphanet:363694

[Term]
id: MONDO:0013459
name: osteogenesis imperfecta type 10
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI type 10" RELATED [GARD:0012874]
synonym: "OI type X" RELATED [GARD:0012874]
synonym: "OI, type 10" RELATED [OMIM:613848]
synonym: "OI10" EXACT [DOID:0110346, MONDO:Lexical, OMIM:613848]
synonym: "osteogenesis imperfecta caused by mutation in SERPINH1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type X" EXACT [DOID:0110346]
synonym: "osteogenesis imperfecta, type 10" RELATED [OMIM:613848]
synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical, OMIM:613848]
synonym: "osteogenesis imperfecta, type X; OI10" RELATED [OMIM:613848]
synonym: "SERPINH1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110346 {source="MONDO:equivalentTo"}
xref: GARD:0012874 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110346"}
xref: OMIM:613848 {source="DOID:0110346", source="MONDO:equivalentTo"}
xref: UMLS:C3151211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613848"}
is_a: MONDO:0019019 {source="DC-OMIM:613848", source="DOID:0110346", source="MONDO:Redundant", source="OMIM:613848"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110346
property_value: exactMatch http://identifiers.org/omim/613848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151211

[Term]
id: MONDO:0013460
name: osteogenesis imperfecta type 12
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI, type 12" RELATED [OMIM:613849]
synonym: "OI12" EXACT [DOID:0110348, MONDO:Lexical, OMIM:613849]
synonym: "osteogenesis imperfecta caused by mutation in SP7" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XII" EXACT [DOID:0110348]
synonym: "osteogenesis imperfecta, type 12" RELATED [OMIM:613849]
synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical, OMIM:613849]
synonym: "osteogenesis imperfecta, type XII; OI12" RELATED [OMIM:613849]
synonym: "SP7 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110348 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110348"}
xref: OMIM:613849 {source="DOID:0110348", source="MONDO:equivalentTo"}
xref: UMLS:C3151433 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613849"}
is_a: MONDO:0019019 {source="DC-OMIM:613849", source="DOID:0110348", source="MONDO:Redundant", source="OMIM:613849"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110348
property_value: exactMatch http://identifiers.org/omim/613849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151433

[Term]
id: MONDO:0013461
name: inosine triphosphatase deficiency
def: "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." [NCIT:C129974]
synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850]
synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [OMIM:613850]
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564127 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129974 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:613850 {source="MONDO:equivalentTo"}
xref: SCTID:238011005 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo"}
xref: UMLS:C0342800 {source="OMIM:613850", source="MONDO:equivalentTo", source="NCIT:C129974"}
is_a: MONDO:0003847 {source="MESH:C564127/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840173
property_value: closeMatch Orphanet:319684
property_value: exactMatch http://identifiers.org/mesh/C564127
property_value: exactMatch http://identifiers.org/omim/613850
property_value: exactMatch http://identifiers.org/snomedct/238011005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342800
property_value: exactMatch NCIT:C129974

[Term]
id: MONDO:0013462
name: fucosyltransferase 6 deficiency
synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852]
xref: OMIM:613852 {source="MONDO:equivalentTo"}
xref: UMLS:C3151219 {source="NCBI:mim2gene_medline", source="OMIM:613852", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151219

[Term]
id: MONDO:0013463
name: dextro-looped transposition of the great arteries 3
def: "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHTD6" RELATED [OMIM:613854]
synonym: "congenital heart defects, multiple types, 6" RELATED [OMIM:613854]
synonym: "congenital heart defects, multiple types, 6; CHTD6" RELATED [OMIM:613854]
synonym: "dextro-looped transposition of the great arteries caused by mutation in GDF1" EXACT [MONDO:design_pattern]
synonym: "dextro-looped transposition of the great arteries type 3" EXACT [DOID:0060772, MONDORULE:1]
synonym: "DTGA3" EXACT [DOID:0060772, MONDO:Lexical, OMIM:613854]
synonym: "GDF1 dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "transposition of the great arteries, dextro-looped 3" RELATED [MONDO:Lexical, OMIM:613854]
synonym: "transposition of the great arteries, dextro-looped 3, formerly" RELATED [OMIM:613854]
synonym: "transposition of the great arteries, dextro-looped 3; DTGA3" RELATED [OMIM:613854]
synonym: "transposition of the great arteries, dextro-looped type 3" EXACT [MONDORULE:1, OMIM:613854]
xref: DOID:0060772 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.3 {source="DOID:0060772"}
xref: OMIM:613854 {source="DOID:0060772", source="MONDO:equivalentTo"}
xref: UMLS:C3151221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613854"}
is_a: MONDO:0019443 {source="DOID:0060772", source="MONDO:Redundant", source="MONDOLEX:0013463", source="OMIM:613854"} ! dextro-looped transposition of the great arteries
property_value: exactMatch DOID:0060772
property_value: exactMatch http://identifiers.org/omim/613854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151221

[Term]
id: MONDO:0013464
name: episodic ataxia type 5
def: "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." [Orphanet:211067]
subset: ordo_disease {source="Orphanet:211067"}
synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EA5" RELATED [MONDO:Lexical, OMIM:613855]
synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855]
synonym: "episodic ataxia, type 5; EA5" RELATED [OMIM:613855]
synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern]
xref: DOID:0050993 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="Orphanet:211067", source="ORDO:211067/attributed", source="ORDO:211067/ntbt"}
xref: MESH:C566601 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613855 {source="Orphanet:211067", source="ORDO:211067/e", source="DOID:0050993", source="MONDO:equivalentTo"}
xref: Orphanet:211067 {source="MONDO:equivalentTo", source="OMIM:613855"}
xref: SCTID:718756005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1866039 {source="Orphanet:211067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613855"}
is_a: MONDO:0016227 {source="DOID:0050993", source="MONDO:Redundant", source="OMIM:613855", source="Orphanet:211067", source="linkedlifedata"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050993
property_value: exactMatch http://identifiers.org/mesh/C566601
property_value: exactMatch http://identifiers.org/omim/613855
property_value: exactMatch http://identifiers.org/snomedct/718756005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866039
property_value: exactMatch Orphanet:211067

[Term]
id: MONDO:0013465
name: achromatopsia 4
def: "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACHM4" EXACT [DOID:0110010, MONDO:Lexical, OMIM:613856]
synonym: "achromatopsia 4" EXACT [MONDO:Lexical, OMIM:613856]
synonym: "achromatopsia 4; ACHM4" RELATED [OMIM:613856]
synonym: "achromatopsia caused by mutation in GNAT2" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 4" EXACT [DOID:0110010, MONDORULE:1, OMIM:613856]
synonym: "GNAT2 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110010 {source="MONDO:equivalentTo"}
xref: MESH:C564206 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613856 {source="MONDO:equivalentTo", source="DOID:0110010"}
xref: UMLS:C1841721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613856"}
is_a: MONDO:0018852 {source="DC-OMIM:613856", source="DOID:0110010", source="MONDO:Redundant", source="MONDOLEX:0013465"} ! achromatopsia
property_value: exactMatch DOID:0110010
property_value: exactMatch http://identifiers.org/mesh/C564206
property_value: exactMatch http://identifiers.org/omim/613856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841721

[Term]
id: MONDO:0013466
name: orofacial cleft 13
synonym: "OFC13" EXACT [MONDO:Lexical, OMIM:613857]
synonym: "orofacial cleft 13" EXACT [MONDO:Lexical, OMIM:613857]
synonym: "orofacial cleft 13; OFC13" RELATED [OMIM:613857]
xref: OMIM:613857 {source="MONDO:equivalentTo"}
xref: UMLS:C3151222 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613857"}
is_a: MONDO:0000358 {source="DC-OMIM:613857", source="OMIM:613857"} ! orofacial cleft
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/omim/613857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151222

[Term]
id: MONDO:0013467
name: immunodeficiency due to ficolin3 deficiency
subset: ordo_disease {source="Orphanet:331190"}
synonym: "Fcn3 deficiency" RELATED [OMIM:613860]
synonym: "ficolin 3 deficiency" RELATED [OMIM:613860]
synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860]
synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860]
xref: ICD10:D84.1 {source="ORDO:331190/attributed", source="ORDO:331190/ntbt", source="Orphanet:331190"}
xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="ORDO:331190/e"}
xref: Orphanet:331190 {source="OMIM:613860", source="MONDO:equivalentTo"}
xref: SCTID:766705006 {source="MONDO:equivalentTo"}
xref: UMLS:C3151226 {source="OMIM:613860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0044209 {source="OMIM:613860"} ! disorder of lectin complement activation pathway
property_value: exactMatch http://identifiers.org/omim/613860
property_value: exactMatch http://identifiers.org/snomedct/766705006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151226
property_value: exactMatch Orphanet:331190

[Term]
id: MONDO:0013468
name: retinitis pigmentosa 59
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital disorder of glycosylation, type Ibb" RELATED [OMIM:613861]
synonym: "DHDDS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 59" EXACT [MONDO:Lexical, OMIM:613861]
synonym: "retinitis pigmentosa 59; RP59" RELATED [OMIM:613861]
synonym: "retinitis pigmentosa caused by mutation in DHDDS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 59" EXACT [DOID:0110352, MONDORULE:2, OMIM:613861]
synonym: "RP59" EXACT [DOID:0110352, MONDO:Lexical, OMIM:613861]
xref: DOID:0110352 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110352"}
xref: OMIM:613861 {source="MONDO:equivalentTo", source="DOID:0110352"}
xref: UMLS:C3151227 {source="OMIM:613861", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613861", source="DOID:0110352", source="MONDO:Redundant", source="OMIM:613861"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110352
property_value: exactMatch http://identifiers.org/omim/613861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151227

[Term]
id: MONDO:0013469
name: retinitis pigmentosa 38
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MERTK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 38" EXACT [MONDO:Lexical, OMIM:613862]
synonym: "retinitis pigmentosa 38; RP38" RELATED [OMIM:613862]
synonym: "retinitis pigmentosa caused by mutation in MERTK" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 38" EXACT [DOID:0110367, MONDORULE:2, OMIM:613862]
synonym: "Rod-cone dystrophy, childhood-onset" RELATED [OMIM:613862]
synonym: "RP38" EXACT [DOID:0110367, MONDO:Lexical, OMIM:613862]
xref: DOID:0110367 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110367"}
xref: OMIM:613862 {source="MONDO:equivalentTo", source="DOID:0110367"}
xref: UMLS:C3151228 {source="OMIM:613862", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613862", source="DOID:0110367", source="MONDO:Redundant", source="OMIM:613862"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110367
property_value: exactMatch http://identifiers.org/omim/613862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151228

[Term]
id: MONDO:0013470
name: generalized epilepsy with febrile seizures plus, type 7
def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863]
synonym: "Gefs+, type 7" RELATED [OMIM:613863]
synonym: "GEFSP7" RELATED [MONDO:Lexical, OMIM:613863]
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO:Lexical, OMIM:613863]
synonym: "generalized epilepsy with febrile seizures plus, type 7; GEFSP7" RELATED [OMIM:613863]
synonym: "SCN9A generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567827 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613863 {source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="DC-OMIM:613863", source="MONDO:Redundant", source="OMIM:613863"} ! generalized epilepsy with febrile seizures plus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751777
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751778
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151229
property_value: exactMatch http://identifiers.org/mesh/C567827
property_value: exactMatch http://identifiers.org/omim/613863

[Term]
id: MONDO:0013471
name: autosomal recessive nonsyndromic deafness 61
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 61" EXACT [DOID:0110513]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 61" EXACT [DOID:0110513, MONDORULE:2]
synonym: "deafness, autosomal recessive 61" RELATED [MONDO:Lexical, OMIM:613865]
synonym: "deafness, autosomal recessive 61; DFNB61" RELATED [OMIM:613865]
synonym: "deafness, autosomal recessive type 61" EXACT [MONDORULE:2, OMIM:613865]
synonym: "DFNB61" EXACT [DOID:0110513, MONDO:Lexical, OMIM:613865]
synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110513 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110513"}
xref: OMIM:613865 {source="DOID:0110513", source="MONDO:equivalentTo"}
xref: UMLS:C3151230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613865"}
is_a: MONDO:0019588 {source="DC-OMIM:613865", source="DOID:0110513", source="MONDO:Redundant", source="OMIM:613865"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110513
property_value: exactMatch http://identifiers.org/omim/613865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151230

[Term]
id: MONDO:0013472
name: fatal infantile hypertonic myofibrillar myopathy
subset: ordo_disease {source="Orphanet:280553"}
synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098, OMIM:613869]
synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [Orphanet:280553]
synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869]
synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098]
synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869]
xref: DOID:0080309 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:280553/attributed", source="ORDO:280553/ntbt", source="Orphanet:280553"}
xref: OMIM:613869 {source="MONDO:equivalentTo", source="Orphanet:280553", source="ORDO:280553/e", source="DOID:0080309"}
xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"}
xref: UMLS:C3151236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613869"}
is_a: MONDO:0018779 {source="Orphanet:280553"} ! hypercontractile muscle stiffness syndrome
property_value: exactMatch DOID:0080309
property_value: exactMatch http://identifiers.org/omim/613869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151236
property_value: exactMatch Orphanet:280553

[Term]
id: MONDO:0013473
name: Hirschsprung disease, cardiac defects, and autonomic dysfunction
synonym: "HCAD" RELATED [OMIM:613870]
synonym: "Hirschsprung disease, cardiac defects, and autonomic dysfunction" EXACT [OMIM:613870]
synonym: "Hirschsprung disease, CARDIAC defects, and autonomic dysfunction; HCAD" RELATED [OMIM:613870]
xref: MESH:C563939 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613870 {source="MONDO:equivalentTo"}
xref: UMLS:C3151237 {source="OMIM:613870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563939
property_value: exactMatch http://identifiers.org/omim/613870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151237

[Term]
id: MONDO:0013474
name: hypertrophic cardiomyopathy 17
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 17" EXACT [DOID:0110323]
synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical, OMIM:613873]
synonym: "cardiomyopathy, familial hypertrophic, 17; CMH17" RELATED [OMIM:613873]
synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2, OMIM:613873]
synonym: "CMH17" EXACT [DOID:0110323, MONDO:Lexical, OMIM:613873]
synonym: "hypertrophic cardiomyopathy caused by mutation in JPH2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 17" EXACT [DOID:0110323, MONDORULE:2]
synonym: "JPH2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110323 {source="MONDO:equivalentTo"}
xref: OMIM:613873 {source="MONDO:equivalentTo", source="DOID:0110323"}
xref: UMLS:C3151264 {source="OMIM:613873", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0013474", source="OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110323
property_value: exactMatch http://identifiers.org/omim/613873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151264

[Term]
id: MONDO:0013475
name: hypertrophic cardiomyopathy 18
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 18" EXACT [DOID:0110324]
synonym: "cardiomyopathy, familial hypertrophic, 18" RELATED [MONDO:Lexical, OMIM:613874]
synonym: "cardiomyopathy, familial hypertrophic, 18; CMH18" RELATED [OMIM:613874]
synonym: "cardiomyopathy, familial hypertrophic, type 18" EXACT [MONDORULE:2, OMIM:613874]
synonym: "CMH18" EXACT [DOID:0110324, MONDO:Lexical, OMIM:613874]
synonym: "hypertrophic cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 18" EXACT [DOID:0110324, MONDORULE:2]
synonym: "PLN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110324 {source="MONDO:equivalentTo"}
xref: OMIM:613874 {source="DOID:0110324", source="MONDO:equivalentTo"}
xref: UMLS:C3151265 {source="NCBI:mim2gene_medline", source="OMIM:613874", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0013475", source="OMIM", source="OMIM:613874"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110324
property_value: exactMatch http://identifiers.org/omim/613874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151265

[Term]
id: MONDO:0013476
name: hypertrophic cardiomyopathy 19
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CALR3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 19" EXACT [DOID:0110325]
synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical, OMIM:613875]
synonym: "cardiomyopathy, familial hypertrophic, 19; CMH19" RELATED [OMIM:613875]
synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2, OMIM:613875]
synonym: "CMH19" EXACT [DOID:0110325, MONDO:Lexical, OMIM:613875]
synonym: "hypertrophic cardiomyopathy caused by mutation in CALR3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 19" EXACT [DOID:0110325, MONDORULE:2]
xref: DOID:0110325 {source="MONDO:equivalentTo"}
xref: OMIM:613875 {source="DOID:0110325", source="MONDO:equivalentTo"}
xref: UMLS:C3151266 {source="OMIM:613875", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0013476", source="OMIM", source="OMIM:613875"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110325
property_value: exactMatch http://identifiers.org/omim/613875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151266

[Term]
id: MONDO:0013477
name: hypertrophic cardiomyopathy 20
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 20" EXACT [DOID:0110326]
synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical, OMIM:613876]
synonym: "cardiomyopathy, familial hypertrophic, 20; CMH20" RELATED [OMIM:613876]
synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2, OMIM:613876]
synonym: "CMH20" EXACT [DOID:0110326, MONDO:Lexical, OMIM:613876]
synonym: "hypertrophic cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 20" EXACT [DOID:0110326, MONDORULE:2]
synonym: "NEXN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110326 {source="MONDO:equivalentTo"}
xref: OMIM:613876 {source="DOID:0110326", source="MONDO:equivalentTo"}
xref: UMLS:C3151267 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613876"}
is_a: MONDO:0024573 {source="MONDOLEX:0013477", source="OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110326
property_value: exactMatch http://identifiers.org/omim/613876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151267

[Term]
id: MONDO:0013478
name: PLIN1-related familial partial lipodystrophy
subset: ordo_disease {source="Orphanet:280356"}
synonym: "familial partial lipodystrophy associated with PLIN1 mutations" RELATED [GARD:0012601]
synonym: "familial partial lipodystrophy type 4" RELATED [GARD:0012601]
synonym: "FPLD due to PLIN1 mutations" RELATED [GARD:0012601]
synonym: "FPLD4" EXACT [MONDO:Lexical, OMIM:613877, Orphanet:280356]
synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELATED [OMIM:613877]
synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM:613877]
synonym: "lipodystrophy, familial partial, type 4; FPLD4" RELATED [OMIM:613877]
synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356]
xref: DOID:0070205 {source="MONDO:equivalentTo"}
xref: GARD:0012601 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="ORDO:280356/attributed", source="ORDO:280356/ntbt", source="Orphanet:280356"}
xref: OMIM:613877 {source="MONDO:equivalentTo", source="ORDO:280356/e", source="Orphanet:280356"}
xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"}
xref: UMLS:C3151268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613877"}
is_a: MONDO:0015885 {source="Orphanet:280356"} ! rare insulin-resistance syndrome
is_a: MONDO:0020088 {source="DC-OMIM:613877", source="MONDOLEX:0013478", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy
property_value: exactMatch DOID:0070205
property_value: exactMatch http://identifiers.org/omim/613877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151268
property_value: exactMatch Orphanet:280356

[Term]
id: MONDO:0013479
name: dilated cardiomyopathy 1HH
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BAG3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical, OMIM:613881]
synonym: "cardiomyopathy, dilated, 1HH; CMD1HH" RELATED [OMIM:613881]
synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9, OMIM:613881]
synonym: "CMD1HH" EXACT [DOID:0110448, MONDO:Lexical, OMIM:613881]
synonym: "dilated cardiomyopathy type 1HH" EXACT [DOID:0110448, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in BAG3" EXACT [MONDO:design_pattern]
xref: DOID:0110448 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110448"}
xref: OMIM:613881 {source="DOID:0110448", source="MONDO:equivalentTo"}
xref: UMLS:C3151293 {source="OMIM:613881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110448
property_value: exactMatch http://identifiers.org/omim/613881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151293

[Term]
id: MONDO:0013480
name: renal hypomagnesemia 6
subset: gard_rare {source="GARD:0012155"}
synonym: "HOMG6" EXACT [DOID:0060884, MONDO:Lexical, OMIM:613882]
synonym: "hypomagnesemia 6, renal" RELATED [MONDO:Lexical, OMIM:613882]
synonym: "hypomagnesemia 6, renal; HOMG6" RELATED [OMIM:613882]
synonym: "renal hypomagnesemia type 6" EXACT [DOID:0060884, MONDORULE:1]
synonym: "renal hypomagnesemia-6" RELATED [GARD:0012155]
xref: DOID:0060884 {source="MONDO:equivalentTo"}
xref: GARD:0012155 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="DOID:0060884"}
xref: OMIM:613882 {source="DOID:0060884", source="MONDO:equivalentTo"}
xref: UMLS:C3151295 {source="OMIM:613882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
property_value: exactMatch DOID:0060884
property_value: exactMatch http://identifiers.org/omim/613882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151295
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 xsd:anyURI {source="GARD:0012155"}

[Term]
id: MONDO:0013481
name: chromosome 13q14 deletion syndrome
def: "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." [Orphanet:1587]
subset: ordo_malformation_syndrome {source="Orphanet:1587"}
synonym: "chromosome 13Q deletion syndrome" RELATED [OMIM:613884]
synonym: "chromosome 13q14 deletion syndrome" EXACT [OMIM:613884]
synonym: "Del(13)(q14)" EXACT [Orphanet:1587]
synonym: "del(13q14)" EXACT [NCIT:C36421]
synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587]
synonym: "monosomy 13q14" RELATED [Orphanet:1587]
synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587]
xref: DOID:0060391 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:1587", source="ORDO:1587/attributed", source="ORDO:1587/ntbt", source="DOID:0060391"}
xref: MESH:C535484 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36421 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:613884 {source="Orphanet:1587", source="ORDO:1587/e", source="MONDO:equivalentTo", source="DOID:0060391"}
xref: Orphanet:1587 {source="OMIM:613884", source="MONDO:equivalentTo", source="DOID:0060391"}
is_a: MONDO:0000761 {source="DC-OMIM:613884", source="DOID:0060391"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015218 {source="Orphanet:1587"} ! syndromic developmental defect of the eye
is_a: MONDO:0016911 {source="Orphanet:1587"} ! partial deletion of the long arm of chromosome 13
is_a: MONDO:0020165 {source="Orphanet:1587"} ! syndromic epicanthus
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1587"} ! chromosomal anomaly with cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265451
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151302
property_value: exactMatch DOID:0060391
property_value: exactMatch http://identifiers.org/mesh/C535484
property_value: exactMatch http://identifiers.org/omim/613884
property_value: exactMatch NCIT:C36421
property_value: exactMatch Orphanet:1587

[Term]
id: MONDO:0013482
name: Meckel syndrome, type 8
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 8" RELATED [DOID:0070122]
synonym: "Meckel syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 8" EXACT [MONDO:Lexical, OMIM:613885]
synonym: "Meckel syndrome, type 8; MKS8" RELATED [OMIM:613885]
synonym: "Meckel-Gruber syndrome, type 8" EXACT [DOID:0070122]
synonym: "MKS8" EXACT [DOID:0070122, MONDO:Lexical, OMIM:613885]
synonym: "TCTN2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070122 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.9 {source="DOID:0070122"}
xref: OMIM:613885 {source="DOID:0070122", source="MONDO:equivalentTo"}
xref: UMLS:C3836857 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DC-OMIM:613885", source="DOID:0070122", source="MONDO:Redundant", source="OMIM:613885"} ! Meckel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1824359
property_value: exactMatch DOID:0070122
property_value: exactMatch http://identifiers.org/omim/613885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3836857

[Term]
id: MONDO:0013483
name: obesity, hyperphagia, and developmental delay
synonym: "obesity, hyperphagia, and developmental delay" EXACT [MONDO:Lexical, OMIM:613886]
synonym: "obesity, hyperphagia, and developmental delay; OBHD" RELATED [OMIM:613886]
synonym: "OBHD" RELATED [MONDO:Lexical, OMIM:613886]
xref: MESH:C563938 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613886 {source="MONDO:equivalentTo"}
xref: UMLS:C3151303 {source="OMIM:613886", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C563938
property_value: exactMatch http://identifiers.org/omim/613886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151303

[Term]
id: MONDO:0013484
name: cataract 36
def: "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 4" EXACT [DOID:0110247]
synonym: "cataract (disease) caused by mutation in TDRD7" EXACT []
synonym: "cataract 36" EXACT [MONDO:Lexical, OMIM:613887]
synonym: "cataract 36; CTRCT36" RELATED [OMIM:613887]
synonym: "cataract type 36" EXACT [DOID:0110247, MONDORULE:2, OMIM:613887]
synonym: "cataract, autosomal recessive congenital 4" RELATED [OMIM:613887]
synonym: "CATC4" EXACT [DOID:0110247]
synonym: "CTRCT36" EXACT [DOID:0110247, MONDO:Lexical, OMIM:613887]
synonym: "TDRD7 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110247 {source="MONDO:equivalentTo"}
xref: OMIM:613887 {source="DOID:0110247", source="MONDO:equivalentTo"}
xref: UMLS:C3151304 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613887"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005129 {source="DC-OMIM:613887", source="DOID:0110247", source="OMIM:613887", source="indirect"} ! cataract (disease)
property_value: exactMatch DOID:0110247
property_value: exactMatch http://identifiers.org/omim/613887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151304

[Term]
id: MONDO:0013485
name: spinocerebellar ataxia type 35
def: "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." [Orphanet:276193]
subset: ordo_disease {source="Orphanet:276193"}
synonym: "SCA35" EXACT [MONDO:Lexical, OMIM:613908, Orphanet:276193]
synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908]
synonym: "spinocerebellar ataxia 35; SCA35" RELATED [OMIM:613908]
synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908]
xref: DOID:0050982 {source="MONDO:equivalentTo"}
xref: GARD:0012366 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:276193/attributed", source="ORDO:276193/ntbt", source="Orphanet:276193"}
xref: OMIM:613908 {source="DOID:0050982", source="MONDO:equivalentTo", source="ORDO:276193/e", source="Orphanet:276193"}
xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"}
xref: SCTID:719300001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4304822 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202597 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:276193"} ! autosomal dominant cerebellar ataxia type I
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1539956
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888031
property_value: exactMatch DOID:0050982
property_value: exactMatch http://identifiers.org/omim/613908
property_value: exactMatch http://identifiers.org/snomedct/719300001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202597
property_value: exactMatch Orphanet:276193

[Term]
id: MONDO:0013486
name: spinocerebellar ataxia type 32
def: "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males." [Orphanet:276183]
subset: ordo_disease {source="Orphanet:276183"}
synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183]
synonym: "SCA32" EXACT [MONDO:Lexical, OMIM:613909, Orphanet:276183]
synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909]
synonym: "spinocerebellar ataxia 32; SCA32" RELATED [OMIM:613909]
xref: ICD10:G11.8 {source="Orphanet:276183", source="ORDO:276183/attributed", source="ORDO:276183/ntbt"}
xref: OMIM:613909 {source="MONDO:equivalentTo", source="Orphanet:276183", source="ORDO:276183/e"}
xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"}
xref: SCTID:719254001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3151343 {source="OMIM:613909", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304844 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:276183"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch http://identifiers.org/omim/613909
property_value: exactMatch http://identifiers.org/snomedct/719254001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304844
property_value: exactMatch Orphanet:276183

[Term]
id: MONDO:0013487
name: recurrent Neisseria infections due to factor D deficiency
subset: ordo_disease {source="Orphanet:169467"}
synonym: "CFDD" RELATED [MONDO:Lexical, OMIM:613912]
synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912]
synonym: "complement factor D deficiency; CFDD" RELATED [OMIM:613912]
synonym: "factor D deficiency" RELATED [OMIM:613912]
xref: ICD10:D84.1 {source="Orphanet:169467", source="ORDO:169467/attributed", source="ORDO:169467/ntbt"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C565027 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613912 {source="Orphanet:169467", source="ORDO:169467/e", source="MONDO:equivalentTo"}
xref: Orphanet:169467 {source="MONDO:equivalentTo", source="OMIM:613912"}
xref: SCTID:234607008 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
xref: UMLS:C0398764 {source="Orphanet:169467", source="MONDO:equivalentTo", source="OMIM:613912"}
is_a: MONDO:0018727 {source="Orphanet:169467"} ! immunodeficiency due to a complement regulatory deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851396
property_value: exactMatch http://identifiers.org/mesh/C565027
property_value: exactMatch http://identifiers.org/omim/613912
property_value: exactMatch http://identifiers.org/snomedct/234607008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398764
property_value: exactMatch Orphanet:169467

[Term]
id: MONDO:0013488
name: APLDC3
synonym: "APLDC3" EXACT [MONDO:Lexical, OMIM:613913]
synonym: "lipodystrophy, partial, acquired, associated with C3 nephritic Factor" RELATED [OMIM:613913]
synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis" RELATED [MONDO:Lexical, OMIM:613913]
synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis; APLDC3" RELATED [OMIM:613913]
xref: OMIM:613913 {source="MONDO:equivalentTo"}
xref: UMLS:C3151347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613913"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151347

[Term]
id: MONDO:0013489
name: autosomal recessive nonsyndromic deafness 89
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 89" EXACT [DOID:0110534]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 89" EXACT [DOID:0110534, MONDORULE:2]
synonym: "deafness, autosomal recessive 89" RELATED [MONDO:Lexical, OMIM:613916]
synonym: "deafness, autosomal recessive 89; DFNB89" RELATED [OMIM:613916]
synonym: "deafness, autosomal recessive type 89" EXACT [MONDORULE:2, OMIM:613916]
synonym: "DFNB89" EXACT [DOID:0110534, MONDO:Lexical, OMIM:613916]
synonym: "KARS autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110534 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110534"}
xref: OMIM:613916 {source="DOID:0110534", source="MONDO:equivalentTo"}
xref: UMLS:C3151351 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613916"}
is_a: MONDO:0019588 {source="DC-OMIM:613916", source="DOID:0110534", source="MONDO:Redundant", source="OMIM:613916"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110534
property_value: exactMatch http://identifiers.org/omim/613916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151351

[Term]
id: MONDO:0013490
name: megalencephalic leukoencephalopathy with subcortical cysts 2A
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A" EXACT [MONDO:Lexical, OMIM:613925]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A; MLC2A" RELATED [OMIM:613925]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 2A" EXACT [MONDORULE:4, OMIM:613925]
synonym: "MLC2A" RELATED [MONDO:Lexical, OMIM:613925]
xref: DOID:0080318 {source="MONDO:equivalentTo"}
xref: OMIM:613925 {source="MONDO:equivalentTo"}
xref: UMLS:C3151355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613925"}
is_a: MONDO:0011391 {source="MONDOLEX:0013490", source="ORDO:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts
property_value: exactMatch DOID:0080318
property_value: exactMatch http://identifiers.org/omim/613925
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151355

[Term]
id: MONDO:0013491
name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT [MONDO:Lexical, OMIM:613926]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation; MLC2B" RELATED [OMIM:613926]
synonym: "MLC2B" RELATED [MONDO:Lexical, OMIM:613926]
xref: DOID:0080317 {source="MONDO:equivalentTo"}
xref: OMIM:613926 {source="MONDO:equivalentTo"}
xref: UMLS:C3151356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613926"}
is_a: MONDO:0011391 {source="MONDOLEX:0013491", source="ORDO:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts
property_value: exactMatch DOID:0080317
property_value: exactMatch http://identifiers.org/omim/613926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151356

[Term]
id: MONDO:0013492
name: APMR3
synonym: "alopecia-mental retardation syndrome 3" RELATED [MONDO:Lexical, OMIM:613930]
synonym: "alopecia-mental retardation syndrome 3; APMR3" RELATED [OMIM:613930]
synonym: "APMR3" EXACT [MONDO:Lexical, OMIM:613930]
xref: OMIM:613930 {source="MONDO:equivalentTo"}
xref: UMLS:C3151362 {source="OMIM:613930", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008756 {source="OMIM:613930"} ! alopecia - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/613930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151362

[Term]
id: MONDO:0013493
name: ACACAD
synonym: "Acaca deficiency" RELATED [OMIM:613933]
synonym: "ACACAD" EXACT [MONDO:Lexical, OMIM:613933]
synonym: "Acc1 deficiency" RELATED [OMIM:613933]
synonym: "ACETYL-CoA carboxylase deficiency" RELATED [MONDO:Lexical, OMIM:613933]
synonym: "ACETYL-CoA carboxylase deficiency; ACACAD" RELATED [OMIM:613933]
xref: MESH:C562678 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613933 {source="MONDO:equivalentTo"}
xref: UMLS:C0268603 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613933"}
is_a: MONDO:0003847 {source="MESH:C562678/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562678
property_value: exactMatch http://identifiers.org/omim/613933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268603

[Term]
id: MONDO:0013494
name: PSMNSW
synonym: "parasomnia, sleep terrors type" RELATED [OMIM:613938]
synonym: "parasomnia, sleepwalking type" RELATED [MONDO:Lexical, OMIM:613938]
synonym: "parasomnia, sleepwalking type; PSMNSW" RELATED [OMIM:613938]
synonym: "PSMNSW" EXACT [MONDO:Lexical, OMIM:613938]
xref: MESH:D013009 {source="MONDO:equivalentTo"}
xref: OMIM:613938 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151363
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151364
property_value: exactMatch http://identifiers.org/mesh/D013009
property_value: exactMatch http://identifiers.org/omim/613938

[Term]
id: MONDO:0013495
name: autosomal recessive congenital ichthyosis 8
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI8" EXACT [DOID:0060717, MONDO:Lexical, OMIM:613943]
synonym: "autosomal recessive congenital ichthyosis type 8" EXACT [DOID:0060717, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:613943]
synonym: "ichthyosis, congenital, autosomal recessive 8; ARCI8" RELATED [OMIM:613943]
synonym: "ichthyosis, congenital, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:613943]
synonym: "ichthyosis, lamellar, 4" RELATED [OMIM:613943]
synonym: "ichthyosis, lamellar, 4, formerly" RELATED [OMIM:613943]
synonym: "lamellar ichthyosis 4" EXACT [DOID:0060717]
synonym: "lamellar ichthyosis, late-onset" RELATED [OMIM:613943]
synonym: "late-onset lamellar ichthyosis" EXACT [DOID:0060717]
xref: DOID:0060717 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060717"}
xref: OMIM:613943 {source="MONDO:equivalentTo", source="DOID:0060717"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151377
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553029
property_value: exactMatch DOID:0060717
property_value: exactMatch http://identifiers.org/omim/613943

[Term]
id: MONDO:0013496
name: IGAN2
subset: predisposition
synonym: "IgA nephropathy, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613944]
synonym: "IgA nephropathy, susceptibility to, 2; IGAN2" RELATED [OMIM:613944]
synonym: "IGAN2" EXACT [MONDO:Lexical, OMIM:613944]
xref: OMIM:613944 {source="MONDO:equivalentTo"}
is_a: MONDO:0005342 {source="DC-OMIM:613944", source="MONDOLEX:0013496", source="OMIM:613944"} ! IgA glomerulonephritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151378
property_value: closeMatch Orphanet:34145
property_value: exactMatch http://identifiers.org/omim/613944

[Term]
id: MONDO:0013497
name: Okt4 epitope deficiency
synonym: "Okt4 epitope deficiency" EXACT [OMIM:613949]
synonym: "T4 epitope deficiency" RELATED [OMIM:613949]
xref: OMIM:613949 {source="MONDO:equivalentTo"}
xref: UMLS:C3151379 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613949"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613949
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151379

[Term]
id: MONDO:0013498
name: schizophrenia 15
def: "A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33." [DOID:0070091]
synonym: "schizophrenia 15" EXACT [MONDO:Lexical, OMIM:613950]
synonym: "schizophrenia 15 with or without an affective disorder" RELATED [OMIM:613950]
synonym: "schizophrenia 15; SCZD15" RELATED [OMIM:613950]
synonym: "schizophrenia susceptibility locus, chromosome 22Q13-related" RELATED [OMIM:613950]
synonym: "schizophrenia type 15" EXACT [MONDORULE:2, OMIM:613950]
synonym: "SCZD15" EXACT [DOID:0070091, MONDO:Lexical, OMIM:613950]
xref: DOID:0070091 {source="MONDO:equivalentTo"}
xref: OMIM:613950 {source="MONDO:equivalentTo", source="DOID:0070091"}
xref: UMLS:C3151380 {source="OMIM:613950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DC-OMIM:613950", source="DOID:0070091", source="MONDO:Redundant"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070091
property_value: exactMatch http://identifiers.org/omim/613950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151380

[Term]
id: MONDO:0013499
name: Fanconi anemia complementation group P
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in SLX4" EXACT []
synonym: "Fanconi anemia caused by mutation in Slx4" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1]
synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical, OMIM:613951]
synonym: "Fanconi anemia, complementation group P; FANCP" RELATED [OMIM:613951]
synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951]
synonym: "FANCP" EXACT [DOID:0111092, MONDO:Lexical, OMIM:613951]
synonym: "SLX4 Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Slx4 Fanconi anemia" EXACT [MONDO:design_pattern]
xref: DOID:0111092 {source="MONDO:equivalentTo"}
xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:613951", source="DOID:0111092", source="MONDO:Redundant", source="OMIM:613951"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1428293
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3469542
property_value: exactMatch DOID:0111092
property_value: exactMatch http://identifiers.org/omim/613951

[Term]
id: MONDO:0013500
name: immunodeficiency 51
synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [OMIM:613953]
synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953]
synonym: "candidiasis, familial, 5, formerly" RELATED [OMIM:613953]
synonym: "candidiasis, familial, 5; CANDF5" RELATED DEPRECATED [OMIM:613953]
synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1, OMIM:613953]
synonym: "IMD51" RELATED [OMIM:613953]
synonym: "immunodeficiency 51; IMD51" RELATED [OMIM:613953]
xref: OMIM:613953 {source="MONDO:equivalentTo"}
xref: UMLS:C3151402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613953"}
xref: UMLS:C4310803 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:613953"}
is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/613953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310803

[Term]
id: MONDO:0013501
name: amyotrophic lateral sclerosis type 14
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS14" EXACT [DOID:0060205, MONDO:Lexical, OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14" EXACT [DOID:0060205, OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; ALS14" RELATED [OMIM:613954]
synonym: "amyotrophic lateral sclerosis caused by mutation in VCP" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205, OMIM:613954]
synonym: "VCP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060205 {source="MONDO:equivalentTo"}
xref: OMIM:613954 {source="MONDO:equivalentTo", source="DOID:0060205"}
xref: UMLS:C3151403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613954"}
is_a: MONDO:0000712 ! FTDALS
property_value: exactMatch DOID:0060205
property_value: exactMatch http://identifiers.org/omim/613954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151403

[Term]
id: MONDO:0013502
name: amyloidosis, primary localized cutaneous, 2
synonym: "amyloidosis, primary localized cutaneous, 2" EXACT [MONDO:Lexical, OMIM:613955]
synonym: "amyloidosis, primary localized cutaneous, 2; PLCA2" RELATED [OMIM:613955]
synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1, OMIM:613955]
synonym: "PLCA2" RELATED [MONDO:Lexical, OMIM:613955]
xref: OMIM:613955 {source="MONDO:equivalentTo"}
xref: UMLS:C3151404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613955"}
is_a: MONDO:0007101 {source="MONDO:Redundant", source="MONDOLEX:0013502", source="ORDO:353220/btnt"} ! familial primary localized cutaneous amyloidosis
property_value: exactMatch http://identifiers.org/omim/613955
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151404

[Term]
id: MONDO:0013503
name: candidiasis, familial, 6
def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CANDF6" RELATED [MONDO:Lexical, OMIM:613956]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:613956]
synonym: "candidiasis, familial, 6" EXACT [MONDO:Lexical, OMIM:613956]
synonym: "candidiasis, familial, 6; CANDF6" RELATED [OMIM:613956]
synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1, OMIM:613956]
synonym: "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" EXACT [MONDO:design_pattern]
synonym: "IL17F familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613956 {source="MONDO:equivalentTo"}
xref: UMLS:C3151405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613956"}
is_a: MONDO:0015279 {source="MONDO:Redundant", source="MONDOLEX:0013503", source="OMIM:613956"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/613956
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151405

[Term]
id: MONDO:0013504
name: spermatogenic failure 8
def: "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in NR5A1" EXACT [MONDO:design_pattern]
synonym: "NR5A1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 8" EXACT [MONDO:Lexical, OMIM:613957]
synonym: "spermatogenic failure 8; SPGF8" RELATED [OMIM:613957]
synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1, OMIM:613957]
synonym: "SPGF8" RELATED [MONDO:Lexical, OMIM:613957]
xref: DOID:0070169 {source="MONDO:equivalentTo"}
xref: OMIM:613957 {source="MONDO:equivalentTo"}
xref: UMLS:C3151406 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613957"}
is_a: MONDO:0004983 {source="DC-OMIM:613957", source="MONDO:Redundant", source="OMIM:613957"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070169
property_value: exactMatch http://identifiers.org/omim/613957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151406

[Term]
id: MONDO:0013505
name: spermatogenic failure 9
def: "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in DPY19L2" EXACT [MONDO:design_pattern]
synonym: "DPY19L2 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "globozoospermia, complete" RELATED [OMIM:613958]
synonym: "globozoospermia, total" RELATED [OMIM:613958]
synonym: "spermatogenic failure 9" EXACT [MONDO:Lexical, OMIM:613958]
synonym: "spermatogenic failure 9; SPGF9" RELATED [OMIM:613958]
synonym: "spermatogenic failure type 9" EXACT [MONDORULE:1, OMIM:613958]
synonym: "SPGF9" RELATED [MONDO:Lexical, OMIM:613958]
xref: DOID:0070175 {source="MONDO:equivalentTo"}
xref: OMIM:613958 {source="MONDO:equivalentTo"}
xref: UMLS:C3151407 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613958"}
is_a: MONDO:0004983 {source="DC-OMIM:613958", source="MONDO:Redundant", source="OMIM:613958"} ! azoospermia
is_a: MONDO:0015746 {source="ORDO:171709/btnt"} ! male infertility due to globozoospermia
property_value: exactMatch DOID:0070175
property_value: exactMatch http://identifiers.org/omim/613958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151407

[Term]
id: MONDO:0013506
name: schizophrenia 16
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3." [DOID:0070092]
synonym: "chromosome 7Q36.3 Duplication syndrome, 362-Kb" RELATED [OMIM:613959]
synonym: "schizophrenia 16" EXACT [MONDO:Lexical, OMIM:613959]
synonym: "schizophrenia 16; SCZD16" RELATED [OMIM:613959]
synonym: "schizophrenia susceptibility locus, chromosome 7Q36.3-related" RELATED [OMIM:613959]
synonym: "schizophrenia type 16" EXACT [MONDORULE:2, OMIM:613959]
synonym: "SCZD16" EXACT [DOID:0070092, MONDO:Lexical, OMIM:613959]
xref: DOID:0070092 {source="MONDO:equivalentTo"}
xref: OMIM:613959 {source="MONDO:equivalentTo", source="DOID:0070092"}
xref: UMLS:C3151408 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613959"}
is_a: MONDO:0001384 ! myopia (disease)
is_a: MONDO:0005090 {source="DC-OMIM:613959", source="DOID:0070092"} ! schizophrenia (disease)
property_value: exactMatch DOID:0070092
property_value: exactMatch http://identifiers.org/omim/613959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151408

[Term]
id: MONDO:0013507
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
synonym: "CDG3" RELATED [OMIM:613960]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 3" RELATED [OMIM:613960]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III" RELATED [OMIM:613960]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III; CDG3" RELATED [OMIM:613960]
synonym: "granulomatous disease, chronic, due to Ncf4 deficiency" RELATED [OMIM:613960]
xref: DOID:0070194 {source="MONDO:equivalentTo"}
xref: OMIM:613960 {source="MONDO:equivalentTo"}
xref: UMLS:C3151409 {source="OMIM:613960", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="DC-OMIM:613960", source="OMIM:613960"} ! chronic granulomatous disease
property_value: exactMatch DOID:0070194
property_value: exactMatch http://identifiers.org/omim/613960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151409

[Term]
id: MONDO:0013508
name: MYP19
synonym: "myopia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613969]
synonym: "myopia 19, autosomal dominant; MYP19" RELATED [OMIM:613969]
synonym: "MYP19" EXACT [MONDO:Lexical, OMIM:613969]
xref: OMIM:613969 {source="MONDO:equivalentTo"}
xref: UMLS:C3151410 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613969"}
is_a: MONDO:0001384 {source="DC-OMIM:613969", source="OMIM:613969"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151410

[Term]
id: MONDO:0013509
name: intellectual disability, autosomal dominant 6
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 6" EXACT [DOID:0070036]
synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [DOID:0070036]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" EXACT [MONDO:design_pattern]
synonym: "GRIN2B autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:613970]
synonym: "mental retardation, autosomal dominant 6, with or without seizures" RELATED [OMIM:613970]
synonym: "mental retardation, autosomal dominant 6, with or without seizures; MRD6" RELATED [OMIM:613970]
synonym: "mental retardation, autosomal dominant 6; MRD6" RELATED [OMIM:613970]
synonym: "mental retardation, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:613970]
synonym: "MRD6" EXACT [DOID:0070036, MONDO:Lexical, OMIM:613970]
xref: DOID:0070036 {source="MONDO:equivalentTo"}
xref: OMIM:613970 {source="DOID:0070036", source="MONDO:equivalentTo"}
xref: UMLS:C3151411 {source="OMIM:613970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:613970", source="DOID:0070036", source="MONDO:Redundant", source="OMIM:613970"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070036
property_value: exactMatch http://identifiers.org/omim/613970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151411

[Term]
id: MONDO:0013510
name: melanoma, cutaneous malignant, susceptibility to, 6
subset: predisposition
synonym: "CMM6" RELATED [MONDO:Lexical, OMIM:613972]
synonym: "melanoma, cutaneous malignant, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613972]
synonym: "melanoma, cutaneous malignant, susceptibility to, 6; CMM6" RELATED [OMIM:613972]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613972]
synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [OMIM:613972]
xref: OMIM:613972 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:613972"} ! familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151417
property_value: exactMatch http://identifiers.org/omim/613972

[Term]
id: MONDO:0013511
name: cyanosis, transient neonatal
synonym: "cyanosis, transient neonatal" EXACT [MONDO:Lexical, OMIM:613977]
synonym: "cyanosis, transient neonatal; TNCY" RELATED [OMIM:613977]
synonym: "TNCY" RELATED [MONDO:Lexical, OMIM:613977]
xref: OMIM:613977 {source="MONDO:equivalentTo"}
xref: UMLS:C3151421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613977"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/613977
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151421

[Term]
id: MONDO:0013512
name: hemoglobin H disease
def: "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." [Orphanet:93616]
subset: ordo_clinical_subtype {source="Orphanet:93616"}
synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031]
synonym: "Alpha-thalassemia intermedia" EXACT [Orphanet:93616]
synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031]
synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [OMIM:613978]
synonym: "HbH" EXACT [DOID:0110031, MONDO:Lexical, OMIM:613978]
synonym: "HbH disease" EXACT [Orphanet:93616]
synonym: "hemoglobin H disease" EXACT [MONDO:Lexical, OMIM:613978]
synonym: "Hemoglobin H disease, Deletional" RELATED [OMIM:613978]
synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031]
synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978]
synonym: "HEMOGLOBIN H disease; HbH" RELATED [OMIM:613978]
xref: DOID:0110031 {source="MONDO:equivalentTo"}
xref: ICD10:D56.0 {source="MONDO:subClassOf", source="ORDO:93616/attributed", source="ORDO:93616/ntbt", source="DOID:0110031", source="Orphanet:93616"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063435 {source="ORDO:93616/e", source="Orphanet:93616"}
xref: NCIT:C95504 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:613978 {source="MONDO:equivalentTo", source="DOID:0110031", source="ORDO:93616/e", source="Orphanet:93616"}
xref: Orphanet:93616 {source="MONDO:equivalentTo", source="DOID:0110031", source="OMIM:613978"}
xref: SCTID:48553001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3161174 {source="NCIT:C95504", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613978", source="ORDO:93616/e", source="Orphanet:93616"}
is_a: MONDO:0011399 {source="DOID:0110031", source="MONDOLEX:0013512", source="NCIT:C95504", source="Orphanet:93616", source="linkedlifedata"} ! alpha thalassemia
relationship: disease_has_feature MONDO:0019844 {source="Orphanet:93616"} ! pituitary hormone deficiency secondary to storage disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1260396
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279561
property_value: exactMatch DOID:0110031
property_value: exactMatch http://identifiers.org/meddra/10063435
property_value: exactMatch http://identifiers.org/omim/613978
property_value: exactMatch http://identifiers.org/snomedct/48553001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3161174
property_value: exactMatch NCIT:C95504
property_value: exactMatch Orphanet:93616

[Term]
id: MONDO:0013513
name: atrial fibrillation, familial, 9
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB9" RELATED [MONDO:Lexical, OMIM:613980]
synonym: "atrial fibrillation, familial, 9" EXACT [MONDO:Lexical, OMIM:613980]
synonym: "atrial fibrillation, familial, 9; ATFB9" RELATED [OMIM:613980]
synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1, OMIM:613980]
synonym: "familial atrial fibrillation caused by mutation in KCNJ2" EXACT [MONDO:design_pattern]
synonym: "KCNJ2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613980 {source="MONDO:equivalentTo"}
xref: UMLS:C3151431 {source="OMIM:613980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:613980", source="MONDO:Redundant", source="MONDOLEX:0013513", source="OMIM:613980"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/613980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151431

[Term]
id: MONDO:0013514
name: hypotrichosis 3
def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Htss2" EXACT [DOID:0110700]
synonym: "hypotrichosis 3" EXACT [MONDO:Lexical, OMIM:613981]
synonym: "hypotrichosis 3; HYPT3" RELATED [OMIM:613981]
synonym: "hypotrichosis caused by mutation in KRT74" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex of the scalp 2" EXACT [DOID:0110700, OMIM:613981]
synonym: "hypotrichosis type 3" EXACT [DOID:0110700, MONDORULE:1, OMIM:613981]
synonym: "HYPT3" RELATED [MONDO:Lexical, OMIM:613981]
synonym: "hypt3" EXACT [DOID:0110700]
synonym: "KRT74 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110700 {source="MONDO:equivalentTo"}
xref: OMIM:613981 {source="DOID:0110700", source="MONDO:equivalentTo"}
xref: UMLS:C3151432 {source="OMIM:613981", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp
property_value: exactMatch DOID:0110700
property_value: exactMatch http://identifiers.org/omim/613981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151432

[Term]
id: MONDO:0013515
name: osteogenesis imperfecta type 6
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI type 6" RELATED [GARD:0008700]
synonym: "OI type VI" RELATED [GARD:0008700]
synonym: "OI6" EXACT [DOID:0110350, MONDO:Lexical, OMIM:613982]
synonym: "osteogenesis imperfecta caused by mutation in SERPINF1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type" RELATED [GARD:0008700]
synonym: "osteogenesis imperfecta type VI" EXACT [DOID:0110350]
synonym: "osteogenesis imperfecta, type 6" RELATED [OMIM:613982]
synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical, OMIM:613982]
synonym: "osteogenesis imperfecta, type VI; OI6" RELATED [OMIM:613982]
synonym: "SERPINF1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SERPINFI- related osteogenesis imperfecta" RELATED [GARD:0008700]
xref: DOID:0110350 {source="MONDO:equivalentTo"}
xref: GARD:0008700 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110350"}
xref: MESH:C536047 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:613982 {source="MONDO:equivalentTo", source="DOID:0110350"}
xref: UMLS:C3279564 {source="OMIM:613982", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:613982", source="DOID:0110350", source="MESH:C536047", source="MONDO:Redundant", source="OMIM:613982"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110350
property_value: exactMatch http://identifiers.org/mesh/C536047
property_value: exactMatch http://identifiers.org/omim/613982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279564

[Term]
id: MONDO:0013516
name: retinitis pigmentosa 60
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PRPF6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 60" EXACT [MONDO:Lexical, OMIM:613983]
synonym: "retinitis pigmentosa 60; RP60" RELATED [OMIM:613983]
synonym: "retinitis pigmentosa caused by mutation in PRPF6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 60" EXACT [DOID:0110411, MONDORULE:2, OMIM:613983]
synonym: "RP60" EXACT [DOID:0110411, MONDO:Lexical, OMIM:613983]
xref: DOID:0110411 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110411"}
xref: OMIM:613983 {source="MONDO:equivalentTo", source="DOID:0110411"}
xref: UMLS:C3151434 {source="OMIM:613983", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:613983", source="DOID:0110411", source="MONDO:Redundant", source="OMIM:613983"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110411
property_value: exactMatch http://identifiers.org/omim/613983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151434

[Term]
id: MONDO:0013517
name: beta-thalassemia HBB/LCRB
def: "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." [SCDO:0000251]
comment: Editor note: consider merging into parent
synonym: "beta-thalassemia" RELATED [OMIM:613985]
xref: OMIM:613985 {source="MONDO:equivalentTo"}
xref: SCDO:0000251 {source="MONDO:equivalentTo"}
is_a: MONDO:0019402 {source="DC-OMIM:613985"} ! beta thalassemia
property_value: exactMatch http://identifiers.org/omim/613985

[Term]
id: MONDO:0013518
name: pituitary hormone deficiency, combined, 6
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2" EXACT [MONDO:design_pattern]
synonym: "CPHD6" RELATED [MONDO:Lexical, OMIM:613986]
synonym: "OTX2 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pituitary hormone deficiency, combined, 6" EXACT [MONDO:Lexical, OMIM:613986]
synonym: "pituitary hormone deficiency, combined, 6; CPHD6" RELATED [OMIM:613986]
synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OMIM:613986]
xref: OMIM:613986 {source="MONDO:equivalentTo"}
xref: UMLS:C3151440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613986"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="MONDOLEX:0013518", source="OMIM:613986", source="ORDO:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form
property_value: exactMatch http://identifiers.org/omim/613986
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151440

[Term]
id: MONDO:0013519
name: dyskeratosis congenita, autosomal recessive 2
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." [DOID:0070017]
synonym: "autosomal recessive dyskeratosis congenita 2" RELATED [DOID:0070017]
synonym: "DKCB2" EXACT [DOID:0070017, MONDO:Lexical, OMIM:613987]
synonym: "dyskeratosis congenita, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:613987]
synonym: "dyskeratosis congenita, autosomal recessive 2; DKCB2" RELATED [OMIM:613987]
synonym: "dyskeratosis congenita, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:613987]
xref: DOID:0070017 {source="MONDO:equivalentTo"}
xref: OMIM:613987 {source="MONDO:equivalentTo", source="DOID:0070017"}
xref: UMLS:C3151441 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613987"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015780 {source="DC-OMIM:613987", source="DOID:0070017", source="MONDO:Redundant", source="OMIM:613987"} ! dyskeratosis congenita
property_value: exactMatch DOID:0070017
property_value: exactMatch http://identifiers.org/omim/613987
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151441

[Term]
id: MONDO:0013520
name: dyskeratosis congenita, autosomal recessive 3
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." [DOID:0070019]
synonym: "autosomal recessive dyskeratosis congenita 3" RELATED [DOID:0070019]
synonym: "DKCB3" EXACT [DOID:0070019, MONDO:Lexical, OMIM:613988]
synonym: "dyskeratosis congenita, autosomal recessive 3" EXACT [MONDO:Lexical, OMIM:613988]
synonym: "dyskeratosis congenita, autosomal recessive 3; DKCB3" RELATED [OMIM:613988]
synonym: "dyskeratosis congenita, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:613988]
xref: DOID:0070019 {source="MONDO:equivalentTo"}
xref: OMIM:613988 {source="MONDO:equivalentTo", source="DOID:0070019"}
xref: UMLS:C3151442 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613988"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015780 {source="DC-OMIM:613988", source="DOID:0070019", source="MONDO:Redundant", source="OMIM:613988"} ! dyskeratosis congenita
property_value: exactMatch DOID:0070019
property_value: exactMatch http://identifiers.org/omim/613988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151442

[Term]
id: MONDO:0013521
name: dyskeratosis congenita, autosomal dominant 2
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33." [DOID:0070016]
synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [DOID:0070016]
synonym: "DKCA2" EXACT [DOID:0070016, MONDO:Lexical, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal dominant 2; DKCA2" RELATED [OMIM:613989]
synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [OMIM:613989]
xref: DOID:0070016 {source="MONDO:equivalentTo"}
xref: OMIM:613989 {source="DOID:0070016", source="MONDO:equivalentTo"}
xref: UMLS:C3151443 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613989"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015780 {source="DOID:0070016", source="MONDO:Redundant", source="OMIM:613989"} ! dyskeratosis congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151444
property_value: exactMatch DOID:0070016
property_value: exactMatch http://identifiers.org/omim/613989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151443

[Term]
id: MONDO:0013522
name: dyskeratosis congenita, autosomal dominant 3
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12." [DOID:0070018]
synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [DOID:0070018]
synonym: "DKCA3" EXACT [DOID:0070018, MONDO:Lexical, OMIM:613990]
synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:613990]
synonym: "dyskeratosis congenita, autosomal dominant 3; DKCA3" RELATED [OMIM:613990]
synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:613990]
xref: DOID:0070018 {source="MONDO:equivalentTo"}
xref: OMIM:613990 {source="MONDO:equivalentTo", source="DOID:0070018"}
xref: UMLS:C3151445 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613990"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015780 {source="DOID:0070018", source="MONDO:Redundant", source="OMIM:613990"} ! dyskeratosis congenita
property_value: exactMatch DOID:0070018
property_value: exactMatch http://identifiers.org/omim/613990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151445

[Term]
id: MONDO:0013523
name: Nestor-Guillermo progeria syndrome
subset: gard_rare {source="GARD:0011008"}
subset: ordo_malformation_syndrome {source="Orphanet:280576"}
synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008]
synonym: "Nestor-Guillermo progeria syndrome; NGPS" RELATED [OMIM:614008]
synonym: "NGPS" EXACT [MONDO:Lexical, OMIM:614008, Orphanet:280576]
synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008]
synonym: "PSCOO" RELATED [GARD:0011008]
xref: GARD:0011008 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="ORDO:280576/attributed", source="ORDO:280576/ntbt", source="Orphanet:280576"}
xref: OMIM:614008 {source="MONDO:equivalentTo", source="ORDO:280576/e", source="Orphanet:280576"}
xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"}
xref: UMLS:C3151446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614008"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576", source="indirect"} ! primary osteolysis
is_a: MONDO:0020732 {source="OMIMPS"} ! progeria
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/614008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151446
property_value: exactMatch Orphanet:280576
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome xsd:anyURI {source="GARD:0011008"}

[Term]
id: MONDO:0013524
name: bleeding diathesis due to thromboxane synthesis deficiency
subset: ordo_disease {source="Orphanet:220443"}
subset: predisposition
synonym: "BDPLT13" RELATED [MONDO:Lexical, OMIM:614009]
synonym: "bleeding disorder, platelet-type, 13, susceptibility to" RELATED [MONDO:Lexical, OMIM:614009]
synonym: "bleeding disorder, platelet-type, 13, susceptibility to; BDPLT13" RELATED [OMIM:614009]
synonym: "bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor" RELATED [OMIM:614009]
synonym: "susceptibility to platelet-type bleeding disorder 13" RELATED [OMIM:614009]
xref: ICD10:D69.8 {source="Orphanet:220443", source="ORDO:220443/attributed", source="ORDO:220443/ntbt"}
xref: OMIM:614009 {source="Orphanet:220443", source="ORDO:220443/e", source="MONDO:equivalentTo"}
xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"}
is_a: MONDO:0018796 {source="Orphanet:220443"} ! isolated constitutional thrombocytopenia
is_a: MONDO:0020573 {source="OMIM:614009"} ! inherited disease susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279614
property_value: exactMatch http://identifiers.org/omim/614009
property_value: exactMatch Orphanet:220443

[Term]
id: MONDO:0013525
name: primary ciliary dyskinesia 16
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD16" EXACT [DOID:0110613, MONDO:Lexical, OMIM:614017]
synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical, OMIM:614017]
synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [OMIM:614017]
synonym: "ciliary dyskinesia, primary, 16; CILD16" RELATED [OMIM:614017]
synonym: "ciliary dyskinesia, primary, type 16" EXACT [MONDORULE:2, OMIM:614017]
synonym: "DNAL1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [DOID:0110613]
synonym: "primary ciliary dyskinesia caused by mutation in DNAL1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 16" EXACT [DOID:0110613, MONDORULE:2]
xref: DOID:0110613 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110613"}
xref: OMIM:614017 {source="DOID:0110613", source="MONDO:equivalentTo"}
xref: UMLS:C3151460 {source="NCBI:mim2gene_medline", source="OMIM:614017", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:614017", source="DOID:0110613", source="MONDO:Redundant", source="MONDOLEX:0013525", source="OMIM:614017"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110613
property_value: exactMatch http://identifiers.org/omim/614017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151460

[Term]
id: MONDO:0013526
name: progressive myoclonic epilepsy type 6
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:280620"}
synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:614018]
synonym: "epilepsy, progressive myoclonic, 6; EPM6" RELATED [OMIM:614018]
synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1, OMIM:614018]
synonym: "EPM6" EXACT [MONDO:Lexical, OMIM:614018, Orphanet:280620]
synonym: "GOSR2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [Orphanet:280620]
synonym: "North Sea progressive myoclonus epilepsy" EXACT [Orphanet:280620]
synonym: "PME type 6" EXACT [Orphanet:280620]
synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620]
xref: GARD:0003872 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G40.3 {source="ORDO:280620/attributed", source="ORDO:280620/ntbt", source="Orphanet:280620"}
xref: OMIM:614018 {source="MONDO:equivalentTo", source="ORDO:280620/e", source="Orphanet:280620"}
xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"}
xref: UMLS:C3279627 {source="OMIM:614018", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020074 {source="DC-OMIM:614018", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/614018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279627
property_value: exactMatch Orphanet:280620

[Term]
id: MONDO:0013527
name: lissencephaly 4
def: "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LIS4" RELATED [MONDO:Lexical, OMIM:614019]
synonym: "lissencephaly (disease) caused by mutation in NDE1" EXACT []
synonym: "lissencephaly 4" EXACT [MONDO:Lexical, OMIM:614019]
synonym: "lissencephaly 4 with microcephaly" RELATED [OMIM:614019]
synonym: "lissencephaly 4, with microcephaly" RELATED [OMIM:614019]
synonym: "lissencephaly 4; LIS4" RELATED [OMIM:614019]
synonym: "lissencephaly type 4" EXACT [MONDORULE:1, OMIM:614019]
synonym: "NDE1 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:614019 {source="MONDO:equivalentTo"}
xref: UMLS:C3151461 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614019"}
is_a: MONDO:0015204 {source="ORDO:1083/btnt"} ! microlissencephaly
property_value: exactMatch http://identifiers.org/omim/614019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151461

[Term]
id: MONDO:0013528
name: intellectual disability, autosomal recessive 14
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:614020]
synonym: "mental retardation, autosomal recessive 14; MRT14" RELATED [OMIM:614020]
synonym: "mental retardation, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:614020]
synonym: "MRT14" RELATED [MONDO:Lexical, OMIM:614020]
synonym: "TECR autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614020 {source="MONDO:equivalentTo"}
xref: UMLS:C3151462 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614020"}
is_a: MONDO:0019502 {source="DC-OMIM:614020", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151462

[Term]
id: MONDO:0013529
name: catecholaminergic polymorphic ventricular tachycardia 3
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [DOID:0060677, MONDORULE:1]
synonym: "CPVT3" RELATED [MONDO:Lexical, OMIM:614021]
synonym: "CVPT3" EXACT [DOID:0060677]
synonym: "TECRL catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical, OMIM:614021]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3; CPVT3" RELATED [OMIM:614021]
xref: DOID:0060677 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060677"}
xref: OMIM:614021 {source="DOID:0060677", source="MONDO:equivalentTo"}
xref: UMLS:C3151463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614021"}
is_a: MONDO:0017990 {source="DC-OMIM:614021", source="DOID:0060677", source="MONDO:Redundant", source="OMIM:614021"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060677
property_value: exactMatch http://identifiers.org/omim/614021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151463

[Term]
id: MONDO:0013530
name: atrial fibrillation, familial, 10
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB10" RELATED [MONDO:Lexical, OMIM:614022]
synonym: "atrial fibrillation, familial, 10" EXACT [MONDO:Lexical, OMIM:614022]
synonym: "atrial fibrillation, familial, 10; ATFB10" RELATED [OMIM:614022]
synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2, OMIM:614022]
synonym: "familial atrial fibrillation caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "SCN5A familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614022 {source="MONDO:equivalentTo"}
xref: UMLS:C3151464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614022"}
is_a: MONDO:0018054 {source="DC-OMIM:614022", source="MONDO:Redundant", source="MONDOLEX:0013530", source="OMIM:614022"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/614022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151464

[Term]
id: MONDO:0013531
name: PSPH deficiency
def: "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." [Orphanet:79350]
subset: ordo_disease {source="Orphanet:79350"}
synonym: "3-phosphoserine phosphatase deficiency" RELATED [Orphanet:79350]
synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023]
synonym: "phosphoserine phosphatase deficiency; PSPHD" RELATED [OMIM:614023]
synonym: "PSPHD" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023]
xref: DOID:0050724 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="ORDO:79350/attributed", source="ORDO:79350/ntbt", source="Orphanet:79350"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614023 {source="ORDO:79350/e", source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350"}
xref: Orphanet:79350 {source="MONDO:equivalentTo", source="OMIM:614023"}
xref: SCTID:124432005 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C1291463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614023"}
is_a: MONDO:0000508 {source="Orphanet:79350"} ! syndromic intellectual disability
is_a: MONDO:0018162 {source="Orphanet:79350"} ! neurometabolic disorder due to serine deficiency
property_value: exactMatch DOID:0050724
property_value: exactMatch http://identifiers.org/omim/614023
property_value: exactMatch http://identifiers.org/snomedct/124432005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291463
property_value: exactMatch Orphanet:79350

[Term]
id: MONDO:0013532
name: protein Z deficiency
synonym: "protein Z deficiency" EXACT [OMIM:614024]
xref: OMIM:614024 {source="MONDO:equivalentTo"}
xref: UMLS:C3151465 {source="OMIM:614024", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151465

[Term]
id: MONDO:0013533
name: hyperlipidemia due to hepatic triglyceride lipase deficiency
def: "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." [Orphanet:140905]
subset: ordo_disease {source="Orphanet:140905"}
synonym: "hepatic lipase deficiency" RELATED [OMIM:614025]
synonym: "HL deficiency" RELATED [OMIM:614025]
synonym: "hyperlipidemia due to hepatic lipase deficiency" EXACT [Orphanet:140905]
synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELATED [Orphanet:140905]
synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905]
synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905]
synonym: "lipc deficiency" RELATED [OMIM:614025]
xref: GARD:0012864 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E78.4 {source="Orphanet:140905", source="ORDO:140905/attributed", source="ORDO:140905/ntbt"}
xref: OMIM:614025 {source="Orphanet:140905", source="ORDO:140905/e", source="MONDO:equivalentTo"}
xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"}
xref: SCTID:720940008 {source="MONDO:kboom-pr-1.00/0.79/8.57", source="MONDO:equivalentTo"}
xref: UMLS:C3151466 {source="OMIM:614025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015903 {source="Orphanet:140905"} ! hyperalphalipoproteinemia
property_value: exactMatch http://identifiers.org/omim/614025
property_value: exactMatch http://identifiers.org/snomedct/720940008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151466
property_value: exactMatch Orphanet:140905

[Term]
id: MONDO:0013534
name: apolipoprotein c-III deficiency
synonym: "apolipoprotein c-III deficiency" EXACT [OMIM:614028]
synonym: "hyperalphalipoproteinemia 2" RELATED [OMIM:614028]
xref: MESH:C566270 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614028 {source="MONDO:equivalentTo"}
xref: UMLS:C3151467 {source="NCBI:mim2gene_medline", source="OMIM:614028", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:cjm"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C566270
property_value: exactMatch http://identifiers.org/omim/614028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3151467

[Term]
id: MONDO:0013535
name: hydroxyacyl glutathione hydrolase deficiency
synonym: "glyoxalase 2 deficiency" RELATED [OMIM:614033]
synonym: "hydroxyacyl glutathione hydrolase deficiency" EXACT [OMIM:614033]
xref: MESH:C564215 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614033 {source="MONDO:equivalentTo"}
xref: UMLS:C3279657 {source="MONDO:equivalentTo", source="OMIM:614033"}
is_a: MONDO:0003847 {source="MESH:C564215/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841858
property_value: exactMatch http://identifiers.org/mesh/C564215
property_value: exactMatch http://identifiers.org/omim/614033
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279657

[Term]
id: MONDO:0013536
name: heme oxygenase 1 deficiency
subset: ordo_disease
synonym: "heme oxygenase 1 deficiency" EXACT [MONDO:Lexical, OMIM:614034]
synonym: "heme oxygenase 1 deficiency; HMOX1D" RELATED [OMIM:614034]
synonym: "HMOX1D" RELATED [MONDO:Lexical, OMIM:614034]
xref: MESH:C564200 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614034 {source="MONDO:equivalentTo"}
xref: Orphanet:562509 {source="MONDO:equivalentTo"}
xref: UMLS:C1841651 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614034"}
is_a: MONDO:0017754 {source="Orphanet:562509"} ! inborn disorder of porphyrin metabolism
property_value: exactMatch http://identifiers.org/mesh/C564200
property_value: exactMatch http://identifiers.org/omim/614034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841651
property_value: exactMatch Orphanet:562509

[Term]
id: MONDO:0013537
name: autosomal recessive nonsyndromic deafness 29
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 29" EXACT [DOID:0110487]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 29" EXACT [DOID:0110487, MONDORULE:2]
synonym: "CLDN14 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 29" RELATED [MONDO:Lexical, OMIM:614035]
synonym: "deafness, autosomal recessive 29; DFNB29" RELATED [OMIM:614035]
synonym: "deafness, autosomal recessive type 29" EXACT [MONDORULE:2, OMIM:614035]
synonym: "DFNB29" EXACT [DOID:0110487, MONDO:Lexical, OMIM:614035]
xref: DOID:0110487 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110487"}
xref: OMIM:614035 {source="MONDO:equivalentTo", source="DOID:0110487"}
xref: UMLS:C3279660 {source="OMIM:614035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:614035", source="DOID:0110487", source="MONDO:Redundant", source="OMIM:614035"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110487
property_value: exactMatch http://identifiers.org/omim/614035
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279660

[Term]
id: MONDO:0013538
name: alpha-2-macroglobulin deficiency
synonym: "A2MD" RELATED [MONDO:Lexical, OMIM:614036]
synonym: "alpha-2-macroglobulin deficiency" EXACT [MONDO:Lexical, OMIM:614036]
synonym: "ALPHA-2-macroglobulin deficiency; A2MD" RELATED [OMIM:614036]
xref: MESH:C566304 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614036 {source="MONDO:equivalentTo"}
xref: UMLS:C3279661 {source="OMIM:614036", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863095
property_value: exactMatch http://identifiers.org/mesh/C566304
property_value: exactMatch http://identifiers.org/omim/614036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279661

[Term]
id: MONDO:0013539
name: hypotonia-failure to thrive-microcephaly syndrome
def: "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." [Orphanet:79507]
subset: ordo_disease {source="Orphanet:79507"}
synonym: "leukotriene C4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507]
synonym: "LTC4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507]
xref: MESH:C565439 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614037 {source="ORDO:79507/e", source="MONDO:equivalentTo", source="Orphanet:79507"}
xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"}
xref: SCTID:717185008 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C3279662 {source="OMIM:614037", source="MONDO:equivalentTo", source="Orphanet:79507"}
is_a: MONDO:0019602 {source="Orphanet:79507"} ! other inborn metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855503
property_value: exactMatch http://identifiers.org/mesh/C565439
property_value: exactMatch http://identifiers.org/omim/614037
property_value: exactMatch http://identifiers.org/snomedct/717185008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279662
property_value: exactMatch Orphanet:79507

[Term]
id: MONDO:0013540
name: deafness-lymphedema-leukemia syndrome
def: "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." [Orphanet:3226]
subset: gard_rare {source="GARD:0013030"}
subset: ordo_malformation_syndrome {source="Orphanet:3226"}
synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226]
synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038]
xref: GARD:0013030 {source="MONDO:equivalentTo"}
xref: ICD10:D46.7 {source="Orphanet:3226", source="ORDO:3226/attributed", source="ORDO:3226/ntbt"}
xref: ICD9:757.0 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614038 {source="Orphanet:3226", source="ORDO:3226/e", source="MONDO:equivalentTo"}
xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"}
xref: SCTID:700057001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3279664 {source="OMIM:614038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0018722 {source="Orphanet:3226"} ! primary lymphedema with associated anomalies
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019044 {source="Orphanet:3226"} ! tumor of hematopoietic and lymphoid tissues
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:3226"} ! syndromic lymphedema
is_a: MONDO:0019589 {source="Orphanet:3226"} ! syndromic genetic deafness
is_a: MONDO:0020204 ! conjunctival tumor
is_a: MONDO:0021248 ! nervous system neoplasm
is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/614038
property_value: exactMatch http://identifiers.org/snomedct/700057001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279664
property_value: exactMatch Orphanet:3226
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome xsd:anyURI {source="GARD:0013030"}

[Term]
id: MONDO:0013541
name: complex cortical dysplasia with other brain malformations 1
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:300570"}
synonym: "CDCBM1" EXACT [DOID:0090137, MONDO:Lexical, OMIM:614039]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [DOID:0090137, MONDORULE:1]
synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137]
synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical, OMIM:614039]
synonym: "cortical dysplasia, complex, with other brain malformations 1; CDCBM1" RELATED [OMIM:614039]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039]
synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090137 {source="MONDO:equivalentTo"}
xref: GARD:0013032 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q04.3 {source="DOID:0090137", source="Orphanet:300570", source="ORDO:300570/attributed", source="ORDO:300570/ntbt"}
xref: OMIM:614039 {source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570", source="ORDO:300570/e"}
xref: Orphanet:300570 {source="OMIM:614039", source="MONDO:equivalentTo", source="DOID:0090137"}
xref: UMLS:CN203402 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000904 {source="DOID:0090137", source="MONDO:Redundant", source="OMIM:614039"} ! complex cortical dysplasia with other brain malformations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279670
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808397
property_value: exactMatch DOID:0090137
property_value: exactMatch http://identifiers.org/omim/614039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203402
property_value: exactMatch Orphanet:300570

[Term]
id: MONDO:0013542
name: Moyamoya disease 5
def: "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTA2 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Moyamoya disease 5" EXACT [MONDO:Lexical, OMIM:614042]
synonym: "Moyamoya disease 5; MYMY5" RELATED [OMIM:614042]
synonym: "Moyamoya disease caused by mutation in ACTA2" EXACT [MONDO:design_pattern]
synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1, OMIM:614042]
synonym: "MYMY5" RELATED [MONDO:Lexical, OMIM:614042]
xref: OMIM:614042 {source="MONDO:equivalentTo"}
xref: UMLS:C3279690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614042"}
is_a: MONDO:0016820 {source="DC-OMIM:614042", source="MONDO:Redundant", source="OMIM:614042"} ! Moyamoya disease
property_value: exactMatch http://identifiers.org/omim/614042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279690

[Term]
id: MONDO:0013543
name: trypsinogen deficiency
synonym: "trypsinogen deficiency" EXACT [OMIM:614044]
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614044 {source="MONDO:equivalentTo"}
xref: SCTID:190953007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268417 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614044"}
is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614044
property_value: exactMatch http://identifiers.org/snomedct/190953007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268417

[Term]
id: MONDO:0013544
name: atrial fibrillation, familial, 11
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB11" RELATED [MONDO:Lexical, OMIM:614049]
synonym: "atrial fibrillation, familial, 11" EXACT [MONDO:Lexical, OMIM:614049]
synonym: "atrial fibrillation, familial, 11; ATFB11" RELATED [OMIM:614049]
synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2, OMIM:614049]
synonym: "familial atrial fibrillation caused by mutation in GJA5" EXACT [MONDO:design_pattern]
synonym: "GJA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614049 {source="MONDO:equivalentTo"}
xref: UMLS:C3279693 {source="OMIM:614049", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:614049", source="MONDO:Redundant", source="MONDOLEX:0013544", source="OMIM:614049"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/614049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279693

[Term]
id: MONDO:0013545
name: atrial fibrillation, familial, 12
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCC9 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ATFB12" RELATED [MONDO:Lexical, OMIM:614050]
synonym: "atrial fibrillation, familial, 12" EXACT [MONDO:Lexical, OMIM:614050]
synonym: "atrial fibrillation, familial, 12; ATFB12" RELATED [OMIM:614050]
synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2, OMIM:614050]
synonym: "familial atrial fibrillation caused by mutation in ABCC9" EXACT [MONDO:design_pattern]
xref: OMIM:614050 {source="MONDO:equivalentTo"}
xref: UMLS:C3279695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614050"}
is_a: MONDO:0018054 {source="DC-OMIM:614050", source="MONDO:Redundant", source="MONDOLEX:0013545", source="OMIM:614050"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/614050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279695

[Term]
id: MONDO:0013546
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
def: "mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." [Orphanet:1194]
subset: ordo_disease {source="Orphanet:1194"}
synonym: "3-MGCA type IV (3-MGCA-4) (formerly)" RELATED [GARD:0012965]
synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [OMIM:614052]
synonym: "MC5DN2" EXACT [DOID:0060331, MONDO:Lexical, OMIM:614052]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2" RELATED [OMIM:614052]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type" RELATED [OMIM:614052]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:614052]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; MC5DN2" RELATED [OMIM:614052]
synonym: "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" EXACT [Orphanet:1194]
synonym: "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" EXACT [Orphanet:1194]
synonym: "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" EXACT [Orphanet:1194]
synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [DOID:0060331]
synonym: "TMEM70 defect" RELATED [GARD:0012965]
synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194]
xref: DOID:0060331 {source="MONDO:equivalentTo"}
xref: GARD:0012965 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="DOID:0060331", source="Orphanet:1194", source="ORDO:1194/attributed", source="ORDO:1194/ntbt"}
xref: MESH:C567528 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614052 {source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194", source="ORDO:1194/e"}
xref: Orphanet:1194 {source="DOID:0060331", source="MONDO:equivalentTo", source="OMIM:614052"}
xref: SCTID:718212006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000066 {source="DC-OMIM:614052"} ! mitochondrial complex deficiency
is_a: MONDO:0017718 {source="Orphanet:1194"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279699
property_value: exactMatch DOID:0060331
property_value: exactMatch http://identifiers.org/mesh/C567528
property_value: exactMatch http://identifiers.org/omim/614052
property_value: exactMatch http://identifiers.org/snomedct/718212006
property_value: exactMatch Orphanet:1194

[Term]
id: MONDO:0013547
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC5DN3" EXACT [DOID:0060332, MONDO:Lexical, OMIM:614053]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [OMIM:614053]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" RELATED [OMIM:614053]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:614053]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3" RELATED [OMIM:614053]
synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E" EXACT [MONDO:design_pattern]
xref: DOID:0060332 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="DOID:0060332"}
xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"}
xref: UMLS:C3279708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614053"}
is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency
is_a: MONDO:0014471 {source="DOID:0060332", source="MONDOLEX:0013547", source="ORDO:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency
property_value: exactMatch DOID:0060332
property_value: exactMatch http://identifiers.org/omim/614053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279708

[Term]
id: MONDO:0013548
name: acetyl-CoA acetyltransferase-2 deficiency
synonym: "ACAT2" RELATED [GARD:0009154]
synonym: "Acat2 deficiency" RELATED [OMIM:614055]
synonym: "ACAT2D" RELATED [MONDO:Lexical, OMIM:614055]
synonym: "acetoacetyl CoA thiolase, cytosolic" RELATED [GARD:0009154]
synonym: "Acetocoenzyme A acetyltransferase 2" RELATED [GARD:0009154]
synonym: "Acetyl CoA acetyltransferase 2 deficiency" RELATED [GARD:0009154]
synonym: "acetyl-CoA acetyltransferase-2 deficiency" EXACT [MONDO:Lexical, OMIM:614055]
synonym: "ACETYL-CoA acetyltransferase-2 deficiency; ACAT2D" RELATED [OMIM:614055]
xref: GARD:0009154 {source="MONDO:equivalentTo"}
xref: MESH:C536005 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614055 {source="MONDO:equivalentTo"}
xref: UMLS:C0342735 {source="MONDO:equivalentTo", source="GARD:0009154", source="OMIM:614055"}
is_a: MONDO:0003847 {source="MESH:C536005/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863485
property_value: exactMatch http://identifiers.org/mesh/C536005
property_value: exactMatch http://identifiers.org/omim/614055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342735
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency xsd:anyURI {source="GARD:0009154"}

[Term]
id: MONDO:0013549
name: N-acetylaspartate deficiency
synonym: "hypoacetylaspartia" RELATED [OMIM:614063]
synonym: "N-acetylaspartate deficiency" EXACT [MONDO:Lexical, OMIM:614063]
synonym: "N-acetylaspartate deficiency; NACED" RELATED [OMIM:614063]
synonym: "naa deficiency" RELATED [OMIM:614063]
synonym: "NACED" RELATED [MONDO:Lexical, OMIM:614063]
xref: OMIM:614063 {source="MONDO:equivalentTo"}
xref: UMLS:C3279716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614063"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279716

[Term]
id: MONDO:0013550
name: distal myopathy with posterior leg and anterior hand involvement
def: "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." [Orphanet:63273]
subset: ordo_disease {source="Orphanet:63273"}
synonym: "distal ABD-filaminopathy" EXACT [Orphanet:63273]
synonym: "MPD4" RELATED [MONDO:Lexical, OMIM:614065]
synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065]
synonym: "myopathy, distal, 4; MPD4" RELATED [OMIM:614065]
synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065]
synonym: "Williams distal myopathy" RELATED [OMIM:614065]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:63273/attributed", source="ORDO:63273/ntbt", source="Orphanet:63273"}
xref: OMIM:614065 {source="MONDO:equivalentTo", source="ORDO:63273/e", source="Orphanet:63273"}
xref: Orphanet:63273 {source="MONDO:equivalentTo", source="OMIM:614065"}
xref: SCTID:733489002 {source="MONDO:equivalentTo"}
xref: UMLS:C3279722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614065"}
xref: UMLS:C4518807 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:63273"} ! autosomal dominant distal myopathy
property_value: exactMatch http://identifiers.org/omim/614065
property_value: exactMatch http://identifiers.org/snomedct/733489002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518807
property_value: exactMatch Orphanet:63273

[Term]
id: MONDO:0013551
name: hereditary spastic paraplegia 47
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799]
synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066]
synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [OMIM:614066]
synonym: "CPSQ5" EXACT [DOID:0110799]
synonym: "hereditary spastic paraplegia caused by mutation in AP4B1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 47" EXACT [DOID:0110799, MONDORULE:2]
synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614066]
synonym: "spastic paraplegia 47, autosomal recessive; SPG47" RELATED [OMIM:614066]
synonym: "spastic quadriplegic cerebral palsy 5" EXACT [DOID:0110799]
synonym: "SPG47" EXACT [DOID:0110799, MONDO:Lexical, OMIM:614066]
xref: DOID:0110799 {source="MONDO:equivalentTo"}
xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"}
xref: UMLS:C3279738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614066"}
is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia
is_a: MONDO:0100176 ! AP-4 deficiency syndrome
property_value: exactMatch DOID:0110799
property_value: exactMatch http://identifiers.org/omim/614066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279738

[Term]
id: MONDO:0013552
name: hereditary spastic paraplegia 52
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804]
synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067]
synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [OMIM:614067]
synonym: "CPSQ6" EXACT [DOID:0110804]
synonym: "hereditary spastic paraplegia caused by mutation in AP4S1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 52" EXACT [DOID:0110804, MONDORULE:2]
synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614067]
synonym: "spastic paraplegia 52, autosomal recessive; SPG52" RELATED [OMIM:614067]
synonym: "spastic quadriplegic cerebral palsy 6" EXACT [DOID:0110804]
synonym: "SPG52" EXACT [DOID:0110804, MONDO:Lexical, OMIM:614067]
xref: DOID:0110804 {source="MONDO:equivalentTo"}
xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"}
xref: UMLS:C3279743 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614067"}
is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia
is_a: MONDO:0100176 ! AP-4 deficiency syndrome
property_value: exactMatch DOID:0110804
property_value: exactMatch http://identifiers.org/omim/614067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279743

[Term]
id: MONDO:0013553
name: immunodeficiency-centromeric instability-facial anomalies syndrome 2
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 2" EXACT [DOID:0090009]
synonym: "ICF2" RELATED [MONDO:Lexical, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT [MONDO:Lexical, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2; ICF2" RELATED [OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2" EXACT [MONDORULE:1, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [DOID:0090009, MONDORULE:1]
synonym: "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090009 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="DOID:0090009"}
xref: OMIM:614069 {source="MONDO:equivalentTo", source="DOID:0090009"}
xref: UMLS:C3279748 {source="OMIM:614069", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000133 {source="DC-OMIM:614069", source="DOID:0090009", source="MONDO:Redundant", source="OMIM:614069"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
property_value: exactMatch DOID:0090009
property_value: exactMatch http://identifiers.org/omim/614069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279748

[Term]
id: MONDO:0013554
name: psoriasis 13, susceptibility to
def: "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "psoriasis 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614070]
synonym: "psoriasis 13, susceptibility to; PSORS13" RELATED [OMIM:614070]
synonym: "psoriasis caused by mutation in TRAF3IP2" EXACT [MONDO:design_pattern]
synonym: "PSORS13" RELATED [MONDO:Lexical, OMIM:614070]
synonym: "susceptibility to psoriasis 13" RELATED [OMIM:614070]
synonym: "TRAF3IP2 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614070 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005083 ! psoriasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279754
property_value: exactMatch http://identifiers.org/omim/614070

[Term]
id: MONDO:0013555
name: Hermansky-Pudlak syndrome 3
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 3" EXACT [MONDO:Lexical, OMIM:614072]
synonym: "Hermansky-Pudlak syndrome 3; HPS3" RELATED [OMIM:614072]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072]
synonym: "HPS3" RELATED [MONDO:Lexical, OMIM:614072]
synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060541 {source="MONDO:equivalentTo"}
xref: OMIM:614072 {source="DOID:0060541", source="MONDO:equivalentTo"}
xref: UMLS:C3888001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1423606
property_value: exactMatch DOID:0060541
property_value: exactMatch http://identifiers.org/omim/614072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888001

[Term]
id: MONDO:0013556
name: Hermansky-Pudlak syndrome 4
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 4" EXACT [MONDO:Lexical, OMIM:614073]
synonym: "Hermansky-Pudlak syndrome 4; HPS4" RELATED [OMIM:614073]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS4" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 4" EXACT [DOID:0060542, MONDORULE:1, OMIM:614073]
synonym: "HPS4" RELATED [MONDO:Lexical, OMIM:614073]
synonym: "HPS4 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060542 {source="MONDO:equivalentTo"}
xref: OMIM:614073 {source="DOID:0060542", source="MONDO:equivalentTo"}
xref: UMLS:C3484357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614073"}
is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis
property_value: exactMatch DOID:0060542
property_value: exactMatch http://identifiers.org/omim/614073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3484357

[Term]
id: MONDO:0013557
name: Hermansky-Pudlak syndrome 5
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 5" EXACT [MONDO:Lexical, OMIM:614074]
synonym: "Hermansky-Pudlak syndrome 5; HPS5" RELATED [OMIM:614074]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS5" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 5" EXACT [DOID:0060543, MONDORULE:1, OMIM:614074]
synonym: "HPS5" RELATED [MONDO:Lexical, OMIM:614074]
synonym: "HPS5 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060543 {source="MONDO:equivalentTo"}
xref: OMIM:614074 {source="DOID:0060543", source="MONDO:equivalentTo"}
xref: UMLS:C3888004 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1424692
property_value: exactMatch DOID:0060543
property_value: exactMatch http://identifiers.org/omim/614074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888004

[Term]
id: MONDO:0013558
name: Hermansky-Pudlak syndrome 6
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 6" EXACT [MONDO:Lexical, OMIM:614075]
synonym: "Hermansky-Pudlak syndrome 6; HPS6" RELATED [OMIM:614075]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS6" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 6" EXACT [DOID:0060544, MONDORULE:1, OMIM:614075]
synonym: "HPS6" RELATED [MONDO:Lexical, OMIM:614075]
synonym: "HPS6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060544 {source="MONDO:equivalentTo"}
xref: NCIT:C150369 {source="MONDO:equivalentTo"}
xref: OMIM:614075 {source="MONDO:equivalentTo", source="DOID:0060544"}
xref: UMLS:C3888007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1425796
property_value: exactMatch DOID:0060544
property_value: exactMatch http://identifiers.org/omim/614075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888007
property_value: exactMatch NCIT:C150369

[Term]
id: MONDO:0013559
name: Hermansky-Pudlak syndrome 7
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:231531"}
synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 7" EXACT [MONDO:Lexical, OMIM:614076]
synonym: "Hermansky-Pudlak syndrome 7; HPS7" RELATED [OMIM:614076]
synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076]
synonym: "HPS7" EXACT [MONDO:Lexical, OMIM:614076, Orphanet:231531]
xref: DOID:0060545 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="Orphanet:231531", source="ORDO:231531/attributed", source="ORDO:231531/ntbt"}
xref: OMIM:614076 {source="Orphanet:231531", source="ORDO:231531/e", source="DOID:0060545", source="MONDO:equivalentTo"}
xref: Orphanet:231531 {source="MONDO:equivalentTo", source="OMIM:614076"}
xref: UMLS:C3279756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614076"}
is_a: MONDO:0019312 {source="DC-OMIM:614076", source="DOID:0060545", source="MONDO:Redundant", source="OMIM:614076", source="Orphanet:231531"} ! Hermansky-Pudlak syndrome
property_value: exactMatch DOID:0060545
property_value: exactMatch http://identifiers.org/omim/614076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279756
property_value: exactMatch Orphanet:231531

[Term]
id: MONDO:0013560
name: Hermansky-Pudlak syndrome 8
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:231537"}
synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 8" EXACT [MONDO:Lexical, OMIM:614077]
synonym: "Hermansky-Pudlak syndrome 8; HPS8" RELATED [OMIM:614077]
synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077]
synonym: "HPS8" EXACT [MONDO:Lexical, OMIM:614077, Orphanet:231537]
xref: DOID:0060546 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="ORDO:231537/attributed", source="ORDO:231537/ntbt", source="MONDO:relatedTo", source="Orphanet:231537"}
xref: OMIM:614077 {source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537", source="ORDO:231537/e"}
xref: Orphanet:231537 {source="MONDO:equivalentTo", source="OMIM:614077"}
xref: UMLS:C3888026 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN201510 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019312 {source="DC-OMIM:614077", source="DOID:0060546", source="MONDO:Redundant", source="OMIM:614077", source="Orphanet:231537"} ! Hermansky-Pudlak syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1538326
property_value: exactMatch DOID:0060546
property_value: exactMatch http://identifiers.org/omim/614077
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201510
property_value: exactMatch Orphanet:231537

[Term]
id: MONDO:0013561
name: chondrodysplasia with joint dislocations, gPAPP type
subset: ordo_malformation_syndrome {source="Orphanet:280586"}
synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT [OMIM:614078]
synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586]
xref: GARD:0011009 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:614078 {source="MONDO:equivalentTo", source="Orphanet:280586", source="ORDO:280586/e"}
xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"}
xref: UMLS:C3279757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614078"}
is_a: MONDO:0019700 {source="Orphanet:280586"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://identifiers.org/omim/614078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279757
property_value: exactMatch Orphanet:280586

[Term]
id: MONDO:0013562
name: aspergillosis, susceptibility to
subset: predisposition
synonym: "aspergillosis, susceptibility to" EXACT [OMIM:614079]
synonym: "susceptibility to aspergillosis" RELATED [OMIM:614079]
xref: OMIM:614079 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005657 ! aspergillosis
relationship: predisposes_towards MONDO:0005657 ! aspergillosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279774
property_value: exactMatch http://identifiers.org/omim/614079

[Term]
id: MONDO:0013563
name: multiple congenital anomalies-hypotonia-seizures syndrome 1
def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." [MONDO:design_pattern]
subset: ordo_malformation_syndrome {source="Orphanet:280633"}
synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633]
synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080]
synonym: "MCAHS1" RELATED [MONDO:Lexical, OMIM:614080]
synonym: "multiple congenital anomalies - hypotonia - seizures syndrome" RELATED [GARD:0012781]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [Orphanet:280633]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT [MONDO:Lexical, OMIM:614080]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1; MCAHS1" RELATED [OMIM:614080]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [DOID:0080138, MONDORULE:1, OMIM:614080]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" EXACT [MONDO:design_pattern]
synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PIGN-CDG" EXACT [Orphanet:280633]
xref: DOID:0080138 {source="MONDO:equivalentTo"}
xref: GARD:0012781 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:280633/attributed", source="ORDO:280633/ntbt", source="Orphanet:280633"}
xref: OMIM:614080 {source="MONDO:equivalentTo", source="DOID:0080138", source="ORDO:280633/e", source="Orphanet:280633"}
xref: Orphanet:280633 {source="MONDO:equivalentTo", source="OMIM:614080"}
xref: UMLS:C3279775 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614080"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:280633"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:280633"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018286 {source="Orphanet:280633"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:280633"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:280633"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080138
property_value: exactMatch http://identifiers.org/omim/614080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279775
property_value: exactMatch Orphanet:280633

[Term]
id: MONDO:0013564
name: anhaptoglobinemia
synonym: "Ahaptoglobinemia" RELATED [OMIM:614081]
synonym: "AHP" RELATED [MONDO:Lexical, OMIM:614081]
synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081]
synonym: "ANHAPTOGLOBINEMIA; AHP" RELATED [OMIM:614081]
synonym: "hypohaptoglobinemia" RELATED [OMIM:614081]
xref: OMIM:614081 {source="MONDO:equivalentTo"}
xref: UMLS:C3279786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614081"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279787
property_value: exactMatch http://identifiers.org/omim/614081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279786

[Term]
id: MONDO:0013565
name: Fanconi anemia complementation group G
def: "Fanconi anemia caused by mutations of the FANCG gene." [NCIT:C125708]
synonym: "FANCG" EXACT [DOID:0111086, MONDO:Lexical, OMIM:614082]
synonym: "Fanconi anemia complementation group type G" EXACT [DOID:0111086, MONDORULE:1]
synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical, OMIM:614082]
synonym: "Fanconi anemia, complementation group G; FANCG" RELATED [OMIM:614082]
synonym: "Fanconi Anemia, complementation group type G" EXACT [MONDORULE:1, OMIM:614082]
xref: DOID:0111086 {source="MONDO:equivalentTo"}
xref: EFO:0009046 {source="MONDO:equivalentTo"}
xref: NCIT:C125708 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: OMIM:614082 {source="MONDO:equivalentTo", source="DOID:0111086"}
is_a: MONDO:0019391 {source="DC-OMIM:614082", source="DOID:0111086", source="EFO:0009046", source="NCIT:C125708", source="OMIM:614082"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333532
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3469527
property_value: exactMatch DOID:0111086
property_value: exactMatch http://identifiers.org/omim/614082
property_value: exactMatch NCIT:C125708

[Term]
id: MONDO:0013566
name: Fanconi anemia complementation group L
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FANCL" EXACT [DOID:0111082, MONDO:Lexical, OMIM:614083]
synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083]
synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical, OMIM:614083]
synonym: "Fanconi anemia, complementation group L; FANCL" RELATED [OMIM:614083]
synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2, OMIM:614083]
xref: DOID:0111082 {source="MONDO:equivalentTo"}
xref: OMIM:614083 {source="DOID:0111082", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:614083", source="DOID:0111082", source="MONDO:Redundant", source="OMIM:614083"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1427106
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3469528
property_value: exactMatch DOID:0111082
property_value: exactMatch http://identifiers.org/omim/614083

[Term]
id: MONDO:0013567
name: atrial heart septal defect 3
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:614089]
synonym: "atrial heart septal defect caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 3" EXACT [DOID:0110108, MONDORULE:1]
synonym: "atrial septal defect 3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:614089]
synonym: "atrial septal defect 3; ASD3" RELATED [OMIM:614089]
synonym: "atrial septal defect type 3" EXACT [MONDORULE:1, OMIM:614089]
synonym: "MYH6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110108 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110108"}
xref: MESH:C563540 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614089 {source="DOID:0110108", source="MONDO:equivalentTo"}
xref: UMLS:C3279790 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:614089"}
is_a: MONDO:0006664 {source="DC-OMIM:614089", source="DOID:0110108", source="MESH:C563540", source="MONDO:Redundant", source="MONDOLEX:0013567", source="OMIM:614089"} ! atrial heart septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834527
property_value: exactMatch DOID:0110108
property_value: exactMatch http://identifiers.org/mesh/C563540
property_value: exactMatch http://identifiers.org/omim/614089
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279790

[Term]
id: MONDO:0013568
name: sick sinus syndrome 3, susceptibility to
def: "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "familial sick sinus syndrome caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "MYH6 familial sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:614090]
synonym: "sick sinus syndrome 3, susceptibility to; SSS3" RELATED [OMIM:614090]
synonym: "SSS3" RELATED [MONDO:Lexical, OMIM:614090]
synonym: "susceptibility to sick sinus syndrome 3" RELATED [OMIM:614090]
xref: OMIM:614090 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0001823 ! sick sinus syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279791
property_value: exactMatch http://identifiers.org/omim/614090

[Term]
id: MONDO:0013569
name: short-rib thoracic dysplasia 7 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." [DOID:0110090, PMID:17935248, PMID:21473986]
synonym: "short rib-polydactyly syndrom type V" EXACT [DOID:0110090]
synonym: "short rib-polydactyly syndrome, type 5" RELATED [OMIM:614091]
synonym: "short-rib thoracic dysplasia 7 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:614091]
synonym: "short-rib thoracic dysplasia 7 with or without polydactyly; SRTD7" RELATED [OMIM:614091]
synonym: "SRPS5" EXACT [DOID:0110090]
synonym: "SRTD7" EXACT [DOID:0110090, MONDO:Lexical, OMIM:614091]
xref: DOID:0110090 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110090"}
xref: OMIM:614091 {source="DOID:0110090", source="MONDO:equivalentTo"}
xref: UMLS:C3279792 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614091"}
is_a: MONDO:0018770 {source="DOID:0110090", source="OMIM:614091"} ! Jeune syndrome
is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
property_value: exactMatch DOID:0110090
property_value: exactMatch http://identifiers.org/omim/614091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279792

[Term]
id: MONDO:0013570
name: combined oxidative phosphorylation defect type 8
def: "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." [Orphanet:319504]
subset: ordo_disease {source="Orphanet:319504"}
synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096]
synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical, OMIM:614096]
synonym: "combined oxidative phosphorylation deficiency 8; COXPD8" RELATED [OMIM:614096]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in AARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096]
synonym: "COXPD8" EXACT [MONDO:Lexical, OMIM:614096, Orphanet:319504]
xref: ICD10:I42.2 {source="Orphanet:319504", source="ORDO:319504/attributed", source="ORDO:319504/ntbt"}
xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="ORDO:319504/e"}
xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"}
xref: SCTID:733600007 {source="MONDO:equivalentTo"}
xref: UMLS:C3279793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614096"}
xref: UMLS:C4518839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:614096", source="MONDO:Redundant", source="OMIM:614096"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:319504"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614096
property_value: exactMatch http://identifiers.org/snomedct/733600007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279793
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518839
property_value: exactMatch Orphanet:319504

[Term]
id: MONDO:0013571
name: acatalasia
def: "Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." [Orphanet:926]
subset: ordo_disease {source="Orphanet:926"}
synonym: "acatalasemia" RELATED [OMIM:614097]
synonym: "acatalasia" EXACT [OMIM:614097]
synonym: "catalase deficiency" EXACT [OMIM:614097, Orphanet:926]
synonym: "deficiency of catalase" EXACT [DOID:2582]
xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"}
xref: EFO:0004144 {source="MONDO:equivalentTo"}
xref: GARD:0000363 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: HGNC:1516 {source="EFO:0004144"}
xref: ICD10:E80.3 {source="ORDO:926/e", source="Orphanet:926", source="ORDO:926/specific"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020642 {source="DOID:2582", source="EFO:0004144", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84526 {source="DOID:2582", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIM:614097 {source="DOID:2582", source="MONDO:equivalentTo", source="ORDO:926/e", source="Orphanet:926"}
xref: Orphanet:926 {source="MONDO:equivalentTo", source="OMIM:614097"}
xref: SCTID:124202004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0268419 {source="DOID:2582", source="NCIT:C84526", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:926/e", source="Orphanet:926", source="OMIM:614097"}
is_a: MONDO:0017753 {source="Orphanet:926"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
property_value: closeMatch http://identifiers.org/snomedct/111393000
property_value: closeMatch http://identifiers.org/snomedct/190954001
property_value: closeMatch http://identifiers.org/snomedct/267454002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931868
property_value: exactMatch DOID:2582
property_value: exactMatch http://identifiers.org/mesh/D020642
property_value: exactMatch http://identifiers.org/omim/614097
property_value: exactMatch http://identifiers.org/snomedct/124202004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268419
property_value: exactMatch NCIT:C84526
property_value: exactMatch Orphanet:926

[Term]
id: MONDO:0013572
name: Keppen-Lubinsky syndrome
subset: ordo_malformation_syndrome {source="Orphanet:435628"}
synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628]
synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098]
synonym: "KEPPEN-Lubinsky syndrome; KPLBS" RELATED [OMIM:614098]
synonym: "KPLBS" RELATED [MONDO:Lexical, OMIM:614098]
xref: ICD10:E88.1 {source="ORDO:435628/attributed", source="ORDO:435628/ntbt", source="Orphanet:435628"}
xref: OMIM:614098 {source="MONDO:equivalentTo", source="ORDO:435628/e", source="Orphanet:435628"}
xref: Orphanet:435628 {source="MONDO:equivalentTo"}
xref: UMLS:C3279800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614098"}
is_a: MONDO:0020087 {source="Orphanet:435628"} ! genetic lipodystrophy
property_value: exactMatch http://identifiers.org/omim/614098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279800
property_value: exactMatch Orphanet:435628

[Term]
id: MONDO:0013573
name: cranioectodermal dysplasia 3
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CED3" RELATED [MONDO:Lexical, OMIM:614099]
synonym: "cranioectodermal dysplasia 3" EXACT [MONDO:Lexical, OMIM:614099]
synonym: "CRANIOECTODERMAL dysplasia 3; CED3" RELATED [OMIM:614099]
synonym: "cranioectodermal dysplasia caused by mutation in IFT43" EXACT [MONDO:design_pattern]
synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1, OMIM:614099]
synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614099 {source="MONDO:equivalentTo"}
xref: UMLS:C3279807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614099"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="MONDOLEX:0013573", source="OMIM:614099", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279807

[Term]
id: MONDO:0013574
name: cutis laxa - Marfanoid syndrome
subset: ordo_malformation_syndrome {source="Orphanet:171719"}
synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100]
synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100]
xref: MESH:C563639 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614100 {source="ORDO:171719/e", source="MONDO:equivalentTo", source="Orphanet:171719"}
xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"}
xref: SCTID:254221009 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C0432335 {source="ORDO:171719/e", source="MONDO:equivalentTo", source="Orphanet:171719", source="OMIM:614100"}
is_a: MONDO:0015332 {source="Orphanet:171719"} ! rare developmental defect with connective tissue involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835577
property_value: exactMatch http://identifiers.org/mesh/C563639
property_value: exactMatch http://identifiers.org/omim/614100
property_value: exactMatch http://identifiers.org/snomedct/254221009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432335
property_value: exactMatch Orphanet:171719

[Term]
id: MONDO:0013575
name: plasma fibronectin deficiency
synonym: "plasma fibronectin deficiency" EXACT [OMIM:614101]
xref: OMIM:614101 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675436
property_value: exactMatch http://identifiers.org/omim/614101

[Term]
id: MONDO:0013576
name: recurrent infections associated with rare immunoglobulin isotypes deficiency
def: "deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." [Orphanet:183675]
subset: ordo_disease {source="Orphanet:183675"}
synonym: "IgG subclass deficiency with IgA subclass deficiency" EXACT [Orphanet:183675]
synonym: "IGKCD" RELATED [MONDO:Lexical, OMIM:614102]
synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency" RELATED [MONDO:Lexical, OMIM:614102]
synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency; IGKCD" RELATED [OMIM:614102]
synonym: "isolated IgG subclass deficiency" EXACT [Orphanet:183675]
synonym: "kappa chain deficiency" RELATED [OMIM:614102]
synonym: "kappa-chain deficiency" EXACT [Orphanet:183675]
synonym: "selective IgG subclass deficiency" EXACT [Orphanet:183675]
xref: MESH:C564131 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614102 {source="MONDO:equivalentTo", source="ORDO:183675/e", source="Orphanet:183675"}
xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"}
xref: UMLS:C3279824 {source="OMIM:614102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:183675"}
is_a: MONDO:0018038 {source="Orphanet:183675"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
property_value: exactMatch http://identifiers.org/mesh/C564131
property_value: exactMatch http://identifiers.org/omim/614102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279824
property_value: exactMatch Orphanet:183675

[Term]
id: MONDO:0013577
name: Lipedema (disease)
def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." [MESH:D065134]
subset: ordo_disease {source="Orphanet:77243"}
synonym: "lipedema" EXACT [MONDO:ambiguous]
xref: HP:0100695 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E65 {source="ORDO:77243/attributed", source="ORDO:77243/ntbt", source="Orphanet:77243"}
xref: MedDRA:10063955 {source="ORDO:77243/e", source="Orphanet:77243"}
xref: MESH:D065134 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614103 {source="MONDO:equivalentTo", source="ORDO:77243/e", source="Orphanet:77243"}
xref: Orphanet:77243 {source="OMIM:614103", source="MONDO:equivalentTo"}
xref: SCTID:234102003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019296 {source="Orphanet:77243"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10063955
property_value: exactMatch http://identifiers.org/mesh/D065134
property_value: exactMatch http://identifiers.org/omim/614103
property_value: exactMatch http://identifiers.org/snomedct/234102003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398370
property_value: exactMatch Orphanet:77243

[Term]
id: MONDO:0013578
name: DYRK1A-related intellectual disability syndrome
def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." [DOID:0070037]
subset: ordo_malformation_syndrome {source="Orphanet:464306"}
synonym: "autosomal dominant mental retardation 7" EXACT [DOID:0070037]
synonym: "autosomal dominant non-syndromic intellectual disability 7" RELATED [DOID:0070037]
synonym: "intellectual disability, autosomal dominant type 7" EXACT []
synonym: "mental retardation, autosomal dominant 7" RELATED [MONDO:Lexical, OMIM:614104]
synonym: "mental retardation, autosomal dominant 7; MRD7" RELATED [OMIM:614104]
synonym: "mental retardation, autosomal dominant type 7" EXACT [MONDORULE:1, OMIM:614104]
synonym: "MRD7" EXACT [DOID:0070037, MONDO:Lexical, OMIM:614104]
xref: DOID:0070037 {source="MONDO:equivalentTo"}
xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="ORDO:464306/e"}
xref: Orphanet:464306 {source="MONDO:equivalentTo"}
xref: UMLS:C3279839 {source="OMIM:614104", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464306", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:464306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070037"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070037
property_value: exactMatch http://identifiers.org/omim/614104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279839
property_value: exactMatch Orphanet:464306

[Term]
id: MONDO:0013579
name: methylmalonate semialdehyde dehydrogenase deficiency
subset: ordo_disease {source="Orphanet:289307"}
synonym: "developmental delay due to ALDH6A1 deficiency" EXACT [Orphanet:289307]
synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307]
synonym: "methylmalonate semialdehyde dehydrogenase deficiency" RELATED [MONDO:Lexical, OMIM:614105]
synonym: "methylmalonate semialdehyde dehydrogenase deficiency; MMSDHD" RELATED [OMIM:614105]
synonym: "MMSDH deficiency" RELATED [OMIM:614105]
synonym: "MMSDHD" RELATED [MONDO:Lexical, OMIM:614105]
xref: ICD10:E71.1 {source="ORDO:289307/attributed", source="ORDO:289307/ntbt", source="Orphanet:289307"}
xref: MESH:C566402 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="ORDO:289307/e"}
xref: Orphanet:289307 {source="OMIM:614105", source="MONDO:equivalentTo"}
xref: UMLS:C3279840 {source="OMIM:614105", source="MONDO:equivalentTo", source="Orphanet:289307", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019242 {source="Orphanet:289307"} ! inborn disorder of branched-chain amino acid metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864150
property_value: exactMatch http://identifiers.org/mesh/C566402
property_value: exactMatch http://identifiers.org/omim/614105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279840
property_value: exactMatch Orphanet:289307

[Term]
id: MONDO:0013580
name: pyruvate dehydrogenase E1-beta deficiency
def: "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." [Orphanet:255138]
subset: ordo_clinical_subtype {source="Orphanet:255138"}
synonym: "PDHBD" EXACT [MONDO:Lexical, OMIM:614111, Orphanet:255138]
synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138]
synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111]
synonym: "pyruvate dehydrogenase E1-BETA deficiency; PDHBD" RELATED [OMIM:614111]
xref: ICD10:E74.4 {source="ORDO:255138/attributed", source="ORDO:255138/ntbt", source="Orphanet:255138"}
xref: MESH:C566729 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614111 {source="ORDO:255138/e", source="MONDO:equivalentTo", source="Orphanet:255138"}
xref: Orphanet:255138 {source="MONDO:equivalentTo", source="OMIM:614111"}
xref: UMLS:C3279841 {source="MONDO:equivalentTo", source="Orphanet:255138", source="MEDGEN:kboom-pr92-c96", source="OMIM:614111"}
is_a: MONDO:0019169 {source="DC-OMIM:614111", source="OMIM:614111", source="Orphanet:255138"} ! pyruvate dehydrogenase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1867399
property_value: exactMatch http://identifiers.org/mesh/C566729
property_value: exactMatch http://identifiers.org/omim/614111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279841
property_value: exactMatch Orphanet:255138

[Term]
id: MONDO:0013581
name: intellectual disability, autosomal dominant 2
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 2" EXACT [DOID:0070032]
synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [DOID:0070032]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8" EXACT [MONDO:design_pattern]
synonym: "DOCK8 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:614113]
synonym: "mental retardation, autosomal dominant 2; MRD2" RELATED [OMIM:614113]
synonym: "mental retardation, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614113]
synonym: "MRD2" EXACT [DOID:0070032, MONDO:Lexical, OMIM:614113]
xref: DOID:0070032 {source="MONDO:equivalentTo"}
xref: OMIM:614113 {source="DOID:0070032", source="MONDO:equivalentTo"}
xref: UMLS:C3279842 {source="OMIM:614113", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:614113", source="DOID:0070032", source="MONDO:Redundant", source="OMIM:614113"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070032
property_value: exactMatch http://identifiers.org/omim/614113
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279842

[Term]
id: MONDO:0013582
name: mosaic variegated aneuploidy syndrome 2
def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP57 mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mosaic variegated aneuploidy syndrome 2" EXACT [MONDO:Lexical, OMIM:614114]
synonym: "MOSAIC variegated aneuploidy syndrome 2; MVA2" RELATED [OMIM:614114]
synonym: "mosaic variegated aneuploidy syndrome caused by mutation in CEP57" EXACT [MONDO:design_pattern]
synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1, OMIM:614114]
synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [DOID:0080142, MONDORULE:1]
synonym: "MVA2" RELATED [MONDO:Lexical, OMIM:614114]
xref: DOID:0080142 {source="MONDO:equivalentTo"}
xref: OMIM:614114 {source="DOID:0080142", source="MONDO:equivalentTo"}
xref: UMLS:C3279843 {source="OMIM:614114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000141 {source="MONDO:Redundant", source="OMIM:614114"} ! mosaic variegated aneuploidy syndrome
property_value: exactMatch DOID:0080142
property_value: exactMatch http://identifiers.org/omim/614114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279843

[Term]
id: MONDO:0013583
name: occipital pachygyria and polymicrogyria
subset: ordo_malformation_syndrome {source="Orphanet:280640"}
synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115]
synonym: "cortical malformations, occipital; OCCM" RELATED [OMIM:614115]
synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640]
synonym: "occipital MCD" EXACT [Orphanet:280640]
synonym: "OCCM" RELATED [MONDO:Lexical, OMIM:614115]
xref: ICD10:Q04.3 {source="ORDO:280640/attributed", source="ORDO:280640/ntbt", source="Orphanet:280640"}
xref: OMIM:614115 {source="MONDO:equivalentTo", source="ORDO:280640/e", source="Orphanet:280640"}
xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"}
xref: UMLS:C3279875 {source="OMIM:614115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015572 {source="Orphanet:280640"} ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch http://identifiers.org/omim/614115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279875
property_value: exactMatch Orphanet:280640

[Term]
id: MONDO:0013584
name: hereditary sensory neuropathy-deafness-dementia syndrome
def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13." [DOID:0070158]
subset: ordo_disease {source="Orphanet:456318"}
synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" RELATED [GARD:0011927]
synonym: "hereditary sensory and autonomic neuropathy type 1E" RELATED [GARD:0011927]
synonym: "hereditary sensory neuropathy type 1E" RELATED [DOID:0070158]
synonym: "hereditary sensory neuropathy type IE" EXACT [DOID:0070158]
synonym: "hereditary sensory neuropathy with hearing loss and dementia" RELATED [GARD:0011927]
synonym: "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" EXACT [Orphanet:456318]
synonym: "HSAN1E" EXACT [Orphanet:456318]
synonym: "HSN 1E" RELATED [OMIM:614116]
synonym: "HSN1E" EXACT [DOID:0070158, MONDO:Lexical, OMIM:614116, Orphanet:456318]
synonym: "HSNIE" RELATED [GARD:0011927]
synonym: "neuropathy, hereditary sensory, type 1E" RELATED [OMIM:614116]
synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical, OMIM:614116]
synonym: "neuropathy, hereditary sensory, type IE; HSN1E" RELATED [OMIM:614116]
synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [OMIM:614116]
xref: DOID:0070158 {source="MONDO:equivalentTo"}
xref: GARD:0011927 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: GARD:11927 {source="DOID:0070158"}
xref: ICD10:G60.8 {source="ORDO:456318/attributed", source="ORDO:456318/ntbt", source="Orphanet:456318", source="DOID:0070158"}
xref: MESH:C580162 {source="MONDO:equivalentTo"}
xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="ORDO:456318/e"}
xref: Orphanet:456318 {source="MONDO:equivalentTo", source="DOID:0070158"}
xref: UMLS:C3279885 {source="NCBI:mim2gene_medline", source="OMIM:614116", source="MONDO:equivalentTo"}
is_a: MONDO:0003406 {source="Orphanet:456318"} ! sleep-wake disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018213 {source="MONDO:cjm"} ! hereditary sensory and autonomic neuropathy type 1
is_a: MONDO:0019589 {source="Orphanet:456318"} ! syndromic genetic deafness
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:456318"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch DOID:0070158
property_value: exactMatch http://identifiers.org/mesh/C580162
property_value: exactMatch http://identifiers.org/omim/614116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279885
property_value: exactMatch Orphanet:456318

[Term]
id: MONDO:0013585
name: hydrolethalus syndrome 2
def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLS2" RELATED [MONDO:Lexical, OMIM:614120]
synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120]
synonym: "hydrolethalus syndrome 2; HLS2" RELATED [OMIM:614120]
synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern]
synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120]
synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614120 {source="MONDO:equivalentTo"}
xref: UMLS:C3279899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614120"}
is_a: MONDO:0006037 {source="DC-OMIM:614120", source="MONDO:Redundant", source="OMIM:614120"} ! hydrolethalus syndrome
property_value: exactMatch http://identifiers.org/omim/614120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279899

[Term]
id: MONDO:0013586
name: Chitotriosidase deficiency
synonym: "CHITD" RELATED [MONDO:Lexical, OMIM:614122]
synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical, OMIM:614122]
synonym: "CHITOTRIOSIDASE deficiency; CHITD" RELATED [OMIM:614122]
xref: OMIM:614122 {source="MONDO:equivalentTo"}
xref: UMLS:C3279902 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614122"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279902

[Term]
id: MONDO:0013587
name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency , people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." [GARD:0003161]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:284435"}
synonym: "glycogenosis due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435]
synonym: "GSD due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435]
synonym: "lactate dehydrogenase B deficiency" EXACT [MONDO:Lexical, OMIM:614128, Orphanet:284435]
synonym: "lactate dehydrogenase B deficiency; LDHBD" RELATED [OMIM:614128]
synonym: "lactate dehydrogenase deficiency type B" RELATED [GARD:0003161]
synonym: "LDH deficiency B" RELATED [GARD:0003161]
synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435]
synonym: "LDHBD" RELATED [GARD:0003161, MONDO:Lexical, OMIM:614128]
xref: GARD:0003161 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:284435/attributed", source="ORDO:284435/ntbt", source="Orphanet:284435"}
xref: MESH:C563641 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614128 {source="MONDO:equivalentTo", source="ORDO:284435/e", source="GARD:0003161", source="Orphanet:284435"}
xref: Orphanet:284435 {source="OMIM:614128", source="MONDO:equivalentTo"}
xref: UMLS:C3279904 {source="OMIM:614128", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:284435"}
is_a: MONDO:0016527 {source="MONDOLEX:0013587", source="Orphanet:284435"} ! glycogen storage disease due to lactate dehydrogenase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835592
property_value: exactMatch http://identifiers.org/mesh/C563641
property_value: exactMatch http://identifiers.org/omim/614128
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279904
property_value: exactMatch Orphanet:284435
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency xsd:anyURI {source="GARD:0003161"}

[Term]
id: MONDO:0013588
name: Perrault syndrome 3
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." [MONDO:patterns/disease_series_by_gene]
comment: based on OMIM phenotypic series 220290. {source="OMIM:614129"}
synonym: "CLPP Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 81" RELATED [OMIM:614129]
synonym: "deafness, autosomal recessive 81, formerly" RELATED [OMIM:614129]
synonym: "Perrault syndrome 3" EXACT [MONDO:Lexical, OMIM:614129]
synonym: "Perrault syndrome 3; PRLTS3" RELATED [OMIM:614129]
synonym: "Perrault syndrome caused by mutation in CLPP" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1, OMIM:614129]
synonym: "PRLTS3" RELATED [MONDO:Lexical, OMIM:614129]
xref: OMIM:614129 {source="MONDO:equivalentTo"}
xref: UMLS:C3808414 {source="MONDO:equivalentTo", source="OMIM:614129"}
is_a: MONDO:0017312 {source="DC-OMIM:614129", source="MONDO:Redundant", source="OMIM:614129"} ! Perrault syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2681413
property_value: exactMatch http://identifiers.org/omim/614129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808414

[Term]
id: MONDO:0013589
name: focal segmental glomerulosclerosis 6
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." [MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 6" EXACT [MONDO:Lexical, OMIM:614131]
synonym: "focal segmental glomerulosclerosis 6; FSGS6" RELATED [OMIM:614131]
synonym: "focal segmental glomerulosclerosis caused by mutation in MYO1E" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 6" EXACT [DOID:0111131, MONDORULE:1, OMIM:614131]
synonym: "FSGS6" EXACT [DOID:0111131, MONDO:Lexical, OMIM:614131]
synonym: "glomerulosclerosis, focal segmental, 6" RELATED [OMIM:614131]
synonym: "MYO1E focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111131 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111131"}
xref: OMIM:614131 {source="MONDO:equivalentTo", source="DOID:0111131"}
xref: UMLS:C3279905 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614131"}
is_a: MONDO:0005363 {source="DC-OMIM:614131", source="DOID:0111131", source="MONDO:Redundant", source="MONDOLEX:0013589", source="OMIM:614131"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111131
property_value: exactMatch http://identifiers.org/omim/614131
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279905

[Term]
id: MONDO:0013590
name: Stickler syndrome, type 4
def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A1" EXACT [MONDO:design_pattern]
synonym: "COL9A1 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical, OMIM:614134]
synonym: "STICKLER syndrome, type IV; STL4" RELATED [OMIM:614134]
synonym: "STL4" RELATED [MONDO:Lexical, OMIM:614134]
xref: OMIM:614134 {source="MONDO:equivalentTo"}
is_a: MONDO:0016647 {source="MONDO:Redundant", source="ORDO:250984/btnt"} ! autosomal recessive Stickler syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852831
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279941
property_value: exactMatch http://identifiers.org/omim/614134

[Term]
id: MONDO:0013591
name: epiphyseal dysplasia, multiple, 6
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0013376"}
synonym: "COL9A1 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM6" RELATED [MONDO:Lexical, OMIM:614135]
synonym: "epiphyseal dysplasia, multiple, 6" EXACT [MONDO:Lexical, OMIM:614135]
synonym: "epiphyseal dysplasia, multiple, 6; EDM6" RELATED [OMIM:614135]
synonym: "epiphyseal dysplasia, multiple, type 6" EXACT [MONDORULE:1, OMIM:614135]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1" EXACT []
synonym: "multiple epiphyseal dysplasia 6" RELATED [GARD:0013376]
xref: DOID:0070301 {source="MONDO:equivalentTo"}
xref: GARD:0013376 {source="MONDO:equivalentTo"}
xref: OMIM:614135 {source="MONDO:equivalentTo"}
xref: UMLS:C2675767 {source="OMIM:614135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
property_value: exactMatch DOID:0070301
property_value: exactMatch http://identifiers.org/omim/614135
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675767
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6 xsd:anyURI {source="GARD:0013376"}

[Term]
id: MONDO:0013592
name: nonsyndromic congenital nail disorder 9
synonym: "anonychia-onycholysis, isolated" RELATED [OMIM:614149]
synonym: "nail disorder, nonsyndromic congenital, 9" RELATED [MONDO:Lexical, OMIM:614149]
synonym: "nail disorder, nonsyndromic congenital, 9; NDNC9" RELATED [OMIM:614149]
synonym: "nail dysplasia" RELATED [OMIM:614149]
synonym: "NDNC9" RELATED [MONDO:Lexical, OMIM:614149]
synonym: "nonsyndromic congenital nail disorder type 9" EXACT [DOID:0080087, MONDORULE:1]
synonym: "onychodystrophy" RELATED [OMIM:614149]
xref: DOID:0080087 {source="MONDO:equivalentTo"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614149 {source="DOID:0080087", source="MONDO:equivalentTo"}
xref: SCTID:87065009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.89"}
xref: UMLS:C3279947 {source="NCBI:mim2gene_medline", source="OMIM:614149", source="MONDO:equivalentTo"}
is_a: MONDO:0019577 {source="ORDO:90390/btnt"} ! anonychia-onychodystrophy syndrome
property_value: exactMatch DOID:0080087
property_value: exactMatch http://identifiers.org/omim/614149
property_value: exactMatch http://identifiers.org/snomedct/87065009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279947

[Term]
id: MONDO:0013593
name: autosomal dominant nonsyndromic deafness 64
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal dominant deafness 64" EXACT [DOID:0110585]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 64" EXACT [DOID:0110585, MONDORULE:2]
synonym: "deafness, autosomal dominant 64" RELATED [MONDO:Lexical, OMIM:614152]
synonym: "deafness, autosomal dominant 64; DFNA64" RELATED [OMIM:614152]
synonym: "deafness, autosomal dominant type 64" EXACT [MONDORULE:2, OMIM:614152]
synonym: "DFNA64" EXACT [DOID:0110585, MONDO:Lexical, OMIM:614152]
synonym: "DIABLO autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110585 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110585"}
xref: OMIM:614152 {source="MONDO:equivalentTo", source="DOID:0110585"}
xref: UMLS:C3279948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614152"}
is_a: MONDO:0019587 {source="DC-OMIM:614152", source="DOID:0110585", source="MONDO:Redundant", source="OMIM:614152"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110585
property_value: exactMatch http://identifiers.org/omim/614152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279948

[Term]
id: MONDO:0013594
name: spinocerebellar ataxia type 36
def: "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." [Orphanet:276198]
subset: ordo_disease {source="Orphanet:276198"}
synonym: "Asidan" EXACT [Orphanet:276198]
synonym: "SCA36" EXACT [MONDO:Lexical, OMIM:614153, Orphanet:276198]
synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153]
synonym: "spinocerebellar ataxia 36; SCA36" RELATED [OMIM:614153]
synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153]
xref: DOID:0050983 {source="MONDO:equivalentTo"}
xref: GARD:0012367 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:276198", source="ORDO:276198/attributed", source="ORDO:276198/ntbt"}
xref: NCIT:C148316 {source="MONDO:equivalentTo"}
xref: OMIM:614153 {source="Orphanet:276198", source="ORDO:276198/e", source="DOID:0050983", source="MONDO:equivalentTo"}
xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"}
xref: SCTID:711158005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3472711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614153"}
is_a: MONDO:0019792 {source="Orphanet:276198"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050983
property_value: exactMatch http://identifiers.org/omim/614153
property_value: exactMatch http://identifiers.org/snomedct/711158005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3472711
property_value: exactMatch NCIT:C148316
property_value: exactMatch Orphanet:276198

[Term]
id: MONDO:0013595
name: hyperbiliverdinemia
def: "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." [Orphanet:276405]
subset: ordo_disease {source="Orphanet:276405"}
synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405]
synonym: "HBLVD" RELATED [MONDO:Lexical, OMIM:614156]
synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156]
synonym: "hyperbiliverdinemia; HBLVD" RELATED [OMIM:614156]
xref: ICD10:K76.8 {source="ORDO:276405/attributed", source="ORDO:276405/ntbt", source="Orphanet:276405"}
xref: OMIM:614156 {source="MONDO:equivalentTo", source="ORDO:276405/e", source="Orphanet:276405"}
xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"}
xref: UMLS:C3279964 {source="OMIM:614156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="Orphanet:276405"} ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015507"} ! rare
property_value: exactMatch http://identifiers.org/omim/614156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279964
property_value: exactMatch Orphanet:276405

[Term]
id: MONDO:0013596
name: obsolete nonsyndromic congenital nail disorder 10
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1394 xsd:string
is_obsolete: true
replaced_by: MONDO:0008060

[Term]
id: MONDO:0013597
name: platelet-type bleeding disorder 14
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDPLT14" EXACT [DOID:0111047, MONDO:Lexical, OMIM:614158]
synonym: "bleeding disorder, platelet-type, 14" RELATED [MONDO:Lexical, OMIM:614158]
synonym: "bleeding disorder, platelet-type, 14; BDPLT14" RELATED [OMIM:614158]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1" EXACT [MONDO:design_pattern]
synonym: "TBXAS1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thromboxane synthase deficiency" EXACT [DOID:0111047]
synonym: "thromboxane synthetase deficiency" RELATED [OMIM:614158]
xref: DOID:0111047 {source="MONDO:equivalentTo"}
xref: MESH:C562866 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614158 {source="MONDO:equivalentTo", source="DOID:0111047"}
xref: SCTID:234477002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.04"}
xref: UMLS:C0398635 {source="OMIM:614158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="DC-OMIM:614158", source="MONDO:Redundant", source="MONDOLEX:0013597", source="OMIM:614158"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch DOID:0111047
property_value: exactMatch http://identifiers.org/mesh/C562866
property_value: exactMatch http://identifiers.org/omim/614158
property_value: exactMatch http://identifiers.org/snomedct/234477002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398635

[Term]
id: MONDO:0013598
name: myostatin-related muscle hypertrophy
def: "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." [https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy]
subset: gard_rare {source="GARD:0010238"}
subset: ordo_disease {source="Orphanet:275534"}
synonym: "MSLHP" EXACT [DOID:0111072, MONDO:Lexical, OMIM:614160]
synonym: "muscle hypertrophy" RELATED [MONDO:Lexical, OMIM:614160]
synonym: "muscle hypertrophy; MSLHP" RELATED [OMIM:614160]
xref: DOID:0111072 {source="MONDO:equivalentTo"}
xref: GARD:0010238 {source="MONDO:equivalentTo"}
xref: HGNC:4223 {source="GARD:0010238"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536106 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614160 {source="DOID:0111072", source="MONDO:equivalentTo", source="ORDO:275534/e", source="Orphanet:275534"}
xref: Orphanet:275534 {source="DOID:0111072", source="MONDO:equivalentTo", source="OMIM:614160"}
xref: SCTID:699185005 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="Orphanet:275534", source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0003939 {source="DOID:0111072"} ! muscle tissue disease
relationship: disease_has_feature MONDO:0013598 {source="Wikidata"} ! myostatin-related muscle hypertrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236033
property_value: exactMatch DOID:0111072
property_value: exactMatch http://identifiers.org/mesh/C536106
property_value: exactMatch http://identifiers.org/omim/614160
property_value: exactMatch http://identifiers.org/snomedct/699185005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931112
property_value: exactMatch Orphanet:275534
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy xsd:anyURI {source="GARD:0010238"}

[Term]
id: MONDO:0013599
name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
def: "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." [Orphanet:391487]
subset: ordo_disease {source="Orphanet:391487"}
subset: predisposition
synonym: "CANDF7" RELATED [GARD:0012314]
synonym: "candidiasis familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314]
synonym: "candidiasis familial, 7" RELATED [GARD:0012314]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:614162]
synonym: "candidiasis, familial, 7" RELATED [OMIM:614162]
synonym: "familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314]
synonym: "IMD31C" RELATED [MONDO:Lexical, OMIM:614162]
synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162]
synonym: "immunodeficiency 31C; IMD31C" RELATED [OMIM:614162]
synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162]
xref: GARD:0012314 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K63.9 {source="ORDO:391487/attributed", source="ORDO:391487/ntbt", source="Orphanet:391487"}
xref: OMIM:614162 {source="MONDO:equivalentTo", source="ORDO:391487/e", source="Orphanet:391487"}
xref: Orphanet:391487 {source="MONDO:equivalentTo"}
xref: UMLS:C3279990 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614162"}
is_a: MONDO:0013427 ! immunodeficiency 31B
is_a: MONDO:0015279 ! chronic mucocutaneous candidiasis (disease)
is_a: MONDO:0015709 {source="Orphanet:391487"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0017278 ! autoimmune polyendocrinopathy
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019787 {source="Orphanet:391487"} ! autoimmune enteropathy
property_value: exactMatch http://identifiers.org/omim/614162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279990
property_value: exactMatch Orphanet:391487

[Term]
id: MONDO:0013600
name: insomnia (disease)
def: "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." [NCIT:P378]
synonym: "delayed sleep phase disorder, susceptibility to" RELATED [OMIM:614163]
synonym: "delayed sleep phase disorder, susceptibility to; DSPD" RELATED [OMIM:614163]
synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [MONDO:Lexical, OMIM:614163]
synonym: "delayed sleep phase syndrome, susceptibility to; DSPS" RELATED [OMIM:614163]
synonym: "DSPD" RELATED [OMIM:614163]
synonym: "DSPS" RELATED [MONDO:Lexical, OMIM:614163]
synonym: "insomnia" EXACT [MONDO:ambiguous]
xref: EFO:0004698 {source="MONDO:equivalentTo"}
xref: HP:0100785 {source="EFO:0004698", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G47.0 {source="MONDO:equivalentTo"}
xref: ICD9:780.52 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007319 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C28286 {source="MONDO:kboom-pr-1.00/0.84/13.84", source="EFO:0004698", source="MONDO:equivalentTo"}
xref: OMIM:614163 {source="EFO:0004698", source="MONDO:equivalentTo"}
xref: SCTID:193462001 {source="EFO:0004698", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.11"}
is_a: MONDO:0005084 {source="EFO:0004698", source="EFO:0004698/inferred"} ! mental disorder
is_a: MONDO:0100081 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! sleep disorder
relationship: excluded_subClassOf MONDO:0003406 {source="EFO:0004698", source="ICD10:G47.0", source="MESH:D007319/inferred", source="NCIT:C28286", source="linkedlifedata/inferred"} ! sleep-wake disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0917801
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3279991
property_value: exactMatch http://identifiers.org/mesh/D007319
property_value: exactMatch http://identifiers.org/omim/614163
property_value: exactMatch http://identifiers.org/snomedct/193462001
property_value: exactMatch NCIT:C28286

[Term]
id: MONDO:0013601
name: gluthathione peroxidase deficiency
synonym: "glutathione peroxidase deficiency" RELATED [MONDO:Lexical, OMIM:614164]
synonym: "glutathione peroxidase deficiency; GPXD" RELATED [OMIM:614164]
synonym: "gluthathione peroxidase deficiency" EXACT []
synonym: "GPXD" RELATED [MONDO:Lexical, OMIM:614164]
xref: OMIM:614164 {source="MONDO:equivalentTo"}
xref: SCTID:234590006 {source="MONDO:equivalentTo"}
xref: UMLS:C0398747 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614164"}
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/omim/614164
property_value: exactMatch http://identifiers.org/snomedct/234590006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398747

[Term]
id: MONDO:0013602
name: paragangliomas 5
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "paraganglioma caused by mutation in SDHA" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 5" EXACT [MONDO:Lexical, OMIM:614165]
synonym: "paragangliomas 5; PGL5" RELATED [OMIM:614165]
synonym: "paragangliomas type 5" EXACT [MONDORULE:1, OMIM:614165]
synonym: "PGL5" RELATED [MONDO:Lexical, OMIM:614165]
synonym: "SDHA paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614165 {source="MONDO:equivalentTo"}
xref: UMLS:C3279992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614165"}
is_a: MONDO:0000448 {source="DC-OMIM:614165", source="MONDO:Redundant", source="OMIM:614165"} ! paraganglioma
is_a: MONDO:0002095 ! vascular cancer
is_a: MONDO:0002367 ! kidney cancer
is_a: MONDO:0002817 ! adrenal gland cancer
is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021089 ! peripheral nervous system cancer
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/614165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279992

[Term]
id: MONDO:0013603
name: MYP20
synonym: "myopia 20, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614166]
synonym: "myopia 20, autosomal dominant; MYP20" RELATED [OMIM:614166]
synonym: "MYP20" EXACT [MONDO:Lexical, OMIM:614166]
xref: OMIM:614166 {source="MONDO:equivalentTo"}
xref: UMLS:C3279996 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614166"}
is_a: MONDO:0001384 {source="DC-OMIM:614166", source="OMIM:614166"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279996

[Term]
id: MONDO:0013604
name: myopia 21, autosomal dominant
def: "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopia (disease) caused by mutation in ZNF644" EXACT []
synonym: "myopia 21, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614167]
synonym: "myopia 21, autosomal dominant; MYP21" RELATED [OMIM:614167]
synonym: "MYP21" RELATED [MONDO:Lexical, OMIM:614167]
synonym: "ZNF644 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:614167 {source="MONDO:equivalentTo"}
xref: UMLS:C3279997 {source="OMIM:614167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:614167", source="MONDO:Redundant", source="OMIM:614167"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3279997

[Term]
id: MONDO:0013605
name: brittle cornea syndrome 2
def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCS2" RELATED [MONDO:Lexical, OMIM:614170]
synonym: "brittle cornea syndrome 2" EXACT [MONDO:Lexical, OMIM:614170]
synonym: "brittle cornea syndrome 2; BCS2" RELATED [OMIM:614170]
synonym: "brittle cornea syndrome caused by mutation in PRDM5" EXACT [MONDO:design_pattern]
synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1, OMIM:614170]
synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614170 {source="MONDO:equivalentTo"}
xref: UMLS:C3280011 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614170"}
is_a: MONDO:0009242 {source="MONDO:Redundant", source="MONDOLEX:0013605", source="OMIM:614170", source="ORDO:90354/btnt"} ! brittle cornea syndrome
property_value: exactMatch http://identifiers.org/omim/614170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280011

[Term]
id: MONDO:0013606
name: Hermansky-Pudlak syndrome 9
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:280663"}
synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 9" EXACT [MONDO:Lexical, OMIM:614171]
synonym: "Hermansky-Pudlak syndrome 9; HPS9" RELATED [OMIM:614171]
synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171]
synonym: "HPS9" EXACT [MONDO:Lexical, OMIM:614171, Orphanet:280663]
xref: DOID:0060547 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="ORDO:280663/attributed", source="ORDO:280663/ntbt", source="MONDO:relatedTo", source="Orphanet:280663"}
xref: OMIM:614171 {source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663", source="ORDO:280663/e"}
xref: Orphanet:280663 {source="MONDO:equivalentTo", source="OMIM:614171"}
xref: UMLS:C3280026 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614171"}
is_a: MONDO:0018042 {source="Orphanet:280663"} ! immunodeficiency syndrome with abnormal pigmentation
is_a: MONDO:0019312 {source="DC-OMIM:614171", source="DOID:0060547", source="MONDO:Redundant", source="OMIM:614171", source="Orphanet:280663"} ! Hermansky-Pudlak syndrome
property_value: exactMatch DOID:0060547
property_value: exactMatch http://identifiers.org/omim/614171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280026
property_value: exactMatch Orphanet:280663

[Term]
id: MONDO:0013607
name: monocytopenia with susceptibility to infections
subset: ordo_disease {source="Orphanet:228423"}
subset: predisposition
synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [Orphanet:228423]
synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections" RELATED [OMIM:614172]
synonym: "DCML" RELATED [GARD:0010934]
synonym: "Dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [Orphanet:228423]
synonym: "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency" RELATED [OMIM:614172]
synonym: "GATA2 deficiency" RELATED [OMIM:614172]
synonym: "IMD21" RELATED [MONDO:Lexical, OMIM:614172]
synonym: "immunodeficiency 21" RELATED [MONDO:Lexical, OMIM:614172]
synonym: "immunodeficiency 21; IMD21" RELATED [OMIM:614172]
synonym: "immunodeficiency type 21" EXACT [MONDORULE:2, OMIM:614172]
synonym: "monocyte - B - natural killer - dendritic cell deficiency" RELATED [GARD:0010934]
synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [Orphanet:228423]
synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172, Orphanet:228423]
synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172]
synonym: "MonoMAC" EXACT [Orphanet:228423]
xref: GARD:0010934 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D72.8 {source="ORDO:228423/attributed", source="ORDO:228423/ntbt", source="Orphanet:228423"}
xref: OMIM:614172 {source="MONDO:equivalentTo", source="Orphanet:228423", source="ORDO:228423/e"}
xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"}
xref: UMLS:C3280030 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614172"}
is_a: MONDO:0015133 {source="Orphanet:228423"} ! quantitative and/or qualitative congenital phagocyte defect
is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML
property_value: exactMatch http://identifiers.org/omim/614172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280030
property_value: exactMatch Orphanet:228423

[Term]
id: MONDO:0013608
name: Joubert syndrome 13
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS13" EXACT [DOID:0110982, MONDO:Lexical, OMIM:614173]
synonym: "Joubert syndrome 13" EXACT [MONDO:Lexical, OMIM:614173]
synonym: "Joubert syndrome 13; JBTS13" RELATED [OMIM:614173]
synonym: "Joubert syndrome caused by mutation in TCTN1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 13" EXACT [DOID:0110982, MONDORULE:2, OMIM:614173]
synonym: "TCTN1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110982 {source="MONDO:equivalentTo"}
xref: OMIM:614173 {source="MONDO:equivalentTo", source="DOID:0110982"}
xref: UMLS:C3280031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614173"}
is_a: MONDO:0018772 {source="DC-OMIM:614173", source="DOID:0110982", source="MONDO:Redundant", source="OMIM:614173"} ! Joubert syndrome
property_value: exactMatch DOID:0110982
property_value: exactMatch http://identifiers.org/omim/614173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280031

[Term]
id: MONDO:0013609
name: Meckel syndrome, type 10
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B9D2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS34" RELATED [GTR:AN1012610]
synonym: "Joubert syndrome 34" RELATED [GTR:AN1012156, OMIM:614175]
synonym: "Meckel syndrome caused by mutation in B9D2" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 10" EXACT [MONDO:Lexical, OMIM:614175]
synonym: "Meckel syndrome, type 10; MKS10" RELATED [OMIM:614175]
synonym: "MKS10" RELATED [MONDO:Lexical, OMIM:614175]
xref: GTR:AN1012156 {source="UMLS:CN620433"}
xref: GTR:AN1012610 {source="UMLS:CN620433"}
xref: OMIM:614175 {source="MONDO:equivalentTo"}
xref: UMLS:C3280036 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614175"}
xref: UMLS:CN620433 {source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DC-OMIM:614175", source="MONDO:Redundant", source="OMIM:614175"} ! Meckel syndrome
property_value: exactMatch http://identifiers.org/omim/614175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN620433

[Term]
id: MONDO:0013610
name: retinitis pigmentosa 61
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CLRN1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 61" EXACT [MONDO:Lexical, OMIM:614180]
synonym: "retinitis pigmentosa 61; RP61" RELATED [OMIM:614180]
synonym: "retinitis pigmentosa caused by mutation in CLRN1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 61" EXACT [DOID:0110373, MONDORULE:2, OMIM:614180]
synonym: "RP61" EXACT [DOID:0110373, MONDO:Lexical, OMIM:614180]
xref: DOID:0110373 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110373"}
xref: OMIM:614180 {source="MONDO:equivalentTo", source="DOID:0110373"}
xref: UMLS:C3280041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614180"}
is_a: MONDO:0019200 {source="DC-OMIM:614180", source="DOID:0110373", source="MONDO:Redundant", source="OMIM:614180"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110373
property_value: exactMatch http://identifiers.org/omim/614180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280041

[Term]
id: MONDO:0013611
name: retinitis pigmentosa 62
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MAK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 62" EXACT [MONDO:Lexical, OMIM:614181]
synonym: "retinitis pigmentosa 62; RP62" RELATED [OMIM:614181]
synonym: "retinitis pigmentosa caused by mutation in MAK" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 62" EXACT [DOID:0110380, MONDORULE:2, OMIM:614181]
synonym: "RP62" EXACT [DOID:0110380, MONDO:Lexical, OMIM:614181]
xref: DOID:0110380 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110380"}
xref: OMIM:614181 {source="MONDO:equivalentTo", source="DOID:0110380"}
xref: UMLS:C3280042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614181"}
is_a: MONDO:0019200 {source="DC-OMIM:614181", source="DOID:0110380", source="MONDO:Redundant", source="OMIM:614181"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110380
property_value: exactMatch http://identifiers.org/omim/614181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280042

[Term]
id: MONDO:0013612
name: Geleophysic dysplasia 2
def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:design_pattern]
synonym: "FBN1 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Geleophysic dysplasia 2" EXACT [MONDO:Lexical, OMIM:614185]
synonym: "GELEOPHYSIC dysplasia 2; GPHYSD2" RELATED [OMIM:614185]
synonym: "geleophysic dysplasia caused by mutation in FBN1" EXACT [MONDO:design_pattern]
synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1, OMIM:614185]
synonym: "GPHYSD2" RELATED [MONDO:Lexical, OMIM:614185]
xref: OMIM:614185 {source="MONDO:equivalentTo"}
xref: UMLS:C3280054 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614185"}
is_a: MONDO:0000127 {source="DC-OMIM:614185", source="MONDO:Redundant", source="OMIM:614185"} ! geleophysic dysplasia
property_value: exactMatch http://identifiers.org/omim/614185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280054

[Term]
id: MONDO:0013613
name: Leber congenital amaurosis 16
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010885"}
synonym: "KCNJ13 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA16" EXACT [DOID:0110118, MONDO:Lexical, OMIM:614186]
synonym: "Leber congenital amaurosis 16" EXACT [MONDO:Lexical, OMIM:614186]
synonym: "Leber congenital amaurosis 16; LCA16" RELATED [OMIM:614186]
synonym: "Leber congenital amaurosis caused by mutation in KCNJ13" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 16" EXACT [DOID:0110118, MONDORULE:2, OMIM:614186]
xref: DOID:0110118 {source="MONDO:equivalentTo"}
xref: GARD:0010885 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110118", source="MONDO:relatedTo"}
xref: OMIM:614186 {source="DOID:0110118", source="MONDO:equivalentTo"}
xref: UMLS:C3280062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614186"}
is_a: MONDO:0018998 {source="DC-OMIM:614186", source="DOID:0110118", source="MONDO:Redundant", source="OMIM:614186"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110118
property_value: exactMatch http://identifiers.org/omim/614186
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16 xsd:anyURI {source="GARD:0010885"}

[Term]
id: MONDO:0013614
name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome
subset: ordo_malformation_syndrome {source="Orphanet:293958"}
synonym: "HPPD" EXACT [MONDO:Lexical, OMIM:614187, Orphanet:293958]
synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187]
synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness; HPPD" RELATED [OMIM:614187]
synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958]
xref: OMIM:614187 {source="ORDO:293958/e", source="Orphanet:293958", source="MONDO:equivalentTo"}
xref: Orphanet:293958 {source="MONDO:equivalentTo", source="OMIM:614187"}
xref: UMLS:C3280065 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614187"}
is_a: MONDO:0019589 {source="Orphanet:293958"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/614187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280065
property_value: exactMatch Orphanet:293958

[Term]
id: MONDO:0013615
name: craniosynostosis and dental anomalies
subset: ordo_malformation_syndrome {source="Orphanet:284149"}
synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:614188]
synonym: "craniosynostosis and dental anomalies; CRSDA" RELATED [OMIM:614188]
synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149]
synonym: "CRSDA" RELATED [MONDO:Lexical, OMIM:614188]
synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149]
xref: ICD10:Q87.0 {source="ORDO:284149/attributed", source="ORDO:284149/ntbt", source="Orphanet:284149"}
xref: OMIM:614188 {source="MONDO:equivalentTo", source="ORDO:284149/e", source="Orphanet:284149"}
xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"}
xref: UMLS:C3280073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614188"}
is_a: MONDO:0015336 {source="Orphanet:284149"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015338 {source="Orphanet:284149"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/omim/614188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280073
property_value: exactMatch Orphanet:284149

[Term]
id: MONDO:0013616
name: pigmented nodular adrenocortical disease, primary, 3
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [OMIM:614190]
synonym: "PDE8B primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pigmented nodular adrenocortical disease, primary, 3" EXACT [MONDO:Lexical, OMIM:614190]
synonym: "pigmented nodular adrenocortical disease, primary, 3; PPNAD3" RELATED [OMIM:614190]
synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1, OMIM:614190]
synonym: "PPNAD3" RELATED [MONDO:Lexical, OMIM:614190]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" EXACT [MONDO:design_pattern]
xref: OMIM:614190 {source="MONDO:equivalentTo"}
xref: UMLS:C3280094 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614190"}
is_a: MONDO:0015999 {source="DC-OMIM:614190", source="MONDO:Redundant", source="OMIM:614190"} ! primary pigmented nodular adrenocortical disease
property_value: exactMatch http://identifiers.org/omim/614190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280094

[Term]
id: MONDO:0013617
name: overgrowth-macrocephaly-facial dysmorphism syndrome
def: "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." [Orphanet:137634]
subset: ordo_malformation_syndrome {source="Orphanet:137634"}
synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" RELATED [MONDO:Lexical, OMIM:614192]
synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD" RELATED [OMIM:614192]
synonym: "MMFD" RELATED [MONDO:Lexical, OMIM:614192]
synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634]
xref: ICD10:Q87.3 {source="Orphanet:137634", source="ORDO:137634/attributed", source="ORDO:137634/ntbt"}
xref: OMIM:614192 {source="ORDO:137634/e", source="Orphanet:137634", source="MONDO:equivalentTo"}
xref: Orphanet:137634 {source="MONDO:equivalentTo", source="OMIM:614192"}
xref: SCTID:722122000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:C3280095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614192"}
is_a: MONDO:0019716 {source="Orphanet:137634"} ! overgrowth syndrome
property_value: exactMatch http://identifiers.org/omim/614192
property_value: exactMatch http://identifiers.org/snomedct/722122000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280095
property_value: exactMatch Orphanet:137634

[Term]
id: MONDO:0013618
name: craniofacial anomalies and anterior segment dysgenesis syndrome
synonym: "CAASDS" RELATED [MONDO:Lexical, OMIM:614195]
synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:614195]
synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome; CAASDS" RELATED [OMIM:614195]
xref: OMIM:614195 {source="MONDO:equivalentTo"}
xref: UMLS:C3280099 {source="MONDO:equivalentTo", source="OMIM:614195"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857964
property_value: exactMatch http://identifiers.org/omim/614195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280099

[Term]
id: MONDO:0013619
name: nephrotic syndrome, type 6
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." [MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in PTPRO" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 6" EXACT [MONDO:Lexical, OMIM:614196]
synonym: "nephrotic syndrome, type 6; NPHS6" RELATED [OMIM:614196]
synonym: "NPHS6" RELATED [MONDO:Lexical, OMIM:614196]
synonym: "PTPRO nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614196 {source="MONDO:equivalentTo"}
xref: UMLS:C3280100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614196"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/614196
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280100

[Term]
id: MONDO:0013620
name: congenital myasthenic syndrome 16
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS16" EXACT [DOID:0110682, MONDO:Lexical, OMIM:614198]
synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [DOID:0110682]
synonym: "congenital myasthenic syndrome caused by mutation in SCN4A" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 16" EXACT [DOID:0110682, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 16" RELATED [MONDO:Lexical, OMIM:614198]
synonym: "myasthenic syndrome, congenital, 16; CMS16" RELATED [OMIM:614198]
synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [OMIM:614198]
synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2, OMIM:614198]
synonym: "SCN4A congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110682 {source="MONDO:equivalentTo"}
xref: OMIM:614198 {source="MONDO:equivalentTo", source="DOID:0110682"}
is_a: MONDO:0020259 ! myopathy with eye involvement
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
is_a: MONDO:0100121 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! SCN4A-related myopathy, autosomal recessive
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280112
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3502630
property_value: exactMatch DOID:0110682
property_value: exactMatch http://identifiers.org/omim/614198

[Term]
id: MONDO:0013621
name: LAMB2-related infantile-onset nephrotic syndrome
def: "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." [Orphanet:306507]
subset: ordo_disease {source="Orphanet:306507"}
synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical, OMIM:614199]
synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5" RELATED [OMIM:614199]
synonym: "NPHS5" RELATED [MONDO:Lexical, OMIM:614199]
xref: ICD10:N04.8 {source="Orphanet:306507", source="ORDO:306507/attributed", source="ORDO:306507/ntbt"}
xref: OMIM:614199 {source="Orphanet:306507", source="ORDO:306507/e", source="MONDO:equivalentTo"}
xref: Orphanet:306507 {source="MONDO:equivalentTo", source="OMIM:614199"}
xref: UMLS:C3280113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614199"}
is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome
is_a: MONDO:0019987 {source="Orphanet:306507"} ! congenital and infantile nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/614199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280113
property_value: exactMatch Orphanet:306507

[Term]
id: MONDO:0013622
name: platelet-type bleeding disorder 9
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:98886"}
synonym: "BDPLT9" EXACT [DOID:0111045, MONDO:Lexical, OMIM:614200]
synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [Orphanet:98886]
synonym: "bleeding disorder, platelet-type, 9" RELATED [MONDO:Lexical, OMIM:614200]
synonym: "bleeding disorder, platelet-type, 9; BDPLT9" RELATED [OMIM:614200]
synonym: "collagen platelet receptor deficiency" EXACT [DOID:0111045]
synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045]
synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern]
synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111045 {source="MONDO:equivalentTo"}
xref: ICD10:D69.8 {source="Orphanet:98886", source="DOID:0111045", source="ORDO:98886/attributed", source="ORDO:98886/ntbt"}
xref: MESH:C566000 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614200 {source="ORDO:98886/e", source="Orphanet:98886", source="MONDO:equivalentTo", source="DOID:0111045"}
xref: Orphanet:98886 {source="OMIM:614200", source="MONDO:equivalentTo", source="DOID:0111045"}
is_a: MONDO:0019138 {source="Orphanet:98886"} ! bleeding diathesis due to a collagen receptor defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280114
property_value: exactMatch DOID:0111045
property_value: exactMatch http://identifiers.org/mesh/C566000
property_value: exactMatch http://identifiers.org/omim/614200
property_value: exactMatch Orphanet:98886

[Term]
id: MONDO:0013623
name: platelet-type bleeding disorder 11
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:98885"}
synonym: "BDPLT11" EXACT [DOID:0111057, MONDO:Lexical, OMIM:614201]
synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [Orphanet:98885]
synonym: "bleeding disorder, platelet-type, 11" RELATED [MONDO:Lexical, OMIM:614201]
synonym: "bleeding disorder, platelet-type, 11; BDPLT11" RELATED [OMIM:614201]
synonym: "glycoprotein 6 deficiency" RELATED [OMIM:614201]
synonym: "glycoprotein VI deficiency" EXACT [DOID:0111057]
synonym: "GP 6 deficiency" RELATED [OMIM:614201]
synonym: "GP VI deficiency" EXACT [DOID:0111057]
synonym: "GP6 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" EXACT [MONDO:design_pattern]
synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293]
xref: DOID:0111057 {source="MONDO:equivalentTo"}
xref: GARD:0013293 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D69.8 {source="Orphanet:98885", source="DOID:0111057", source="ORDO:98885/attributed", source="ORDO:98885/ntbt"}
xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="DOID:0111057", source="ORDO:98885/e"}
xref: Orphanet:98885 {source="OMIM:614201", source="MONDO:equivalentTo", source="DOID:0111057"}
xref: SCTID:765977002 {source="MONDO:equivalentTo"}
xref: UMLS:C3280120 {source="OMIM:614201", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019138 {source="Orphanet:98885"} ! bleeding diathesis due to a collagen receptor defect
property_value: exactMatch DOID:0111057
property_value: exactMatch http://identifiers.org/omim/614201
property_value: exactMatch http://identifiers.org/snomedct/765977002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280120
property_value: exactMatch Orphanet:98885

[Term]
id: MONDO:0013624
name: intellectual disability, autosomal recessive 15
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1" EXACT [MONDO:design_pattern]
synonym: "MAN1B1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 15" EXACT DEPRECATED [DOID:1059, MONDO:Lexical, OMIM:614202]
synonym: "mental retardation, autosomal recessive 15; MRT15" RELATED DEPRECATED [OMIM:614202]
synonym: "mental retardation, autosomal recessive type 15" EXACT DEPRECATED [MONDORULE:2, OMIM:614202]
synonym: "MRT15" RELATED [MONDO:Lexical, OMIM:614202]
xref: OMIM:614202 {source="MONDO:equivalentTo"}
xref: UMLS:C3280127 {source="OMIM:614202", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614202", source="MONDO:Redundant", source="OMIM:614202"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/154978008
property_value: closeMatch NCIT:C84392
property_value: exactMatch http://identifiers.org/omim/614202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280127

[Term]
id: MONDO:0013625
name: Parkinson disease 17
def: "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Parkinson disease 17" EXACT [DOID:0060897]
synonym: "PARK17" RELATED [MONDO:Lexical, OMIM:614203]
synonym: "Parkinson disease 17" EXACT [MONDO:Lexical, OMIM:614203]
synonym: "Parkinson disease 17; PARK17" RELATED [OMIM:614203]
synonym: "Parkinson disease caused by mutation in VPS35" EXACT [MONDO:design_pattern]
synonym: "Parkinson disease type 17" EXACT [DOID:0060897, MONDORULE:2, OMIM:614203]
synonym: "Parkinson's disease 17" RELATED [DOID:0060897]
synonym: "VPS35 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060897 {source="MONDO:equivalentTo"}
xref: OMIM:614203 {source="DOID:0060897", source="MONDO:equivalentTo"}
xref: UMLS:C3280133 {source="OMIM:614203", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="DOID:0060897", source="Orphanet:411602"} ! hereditary late onset Parkinson disease
property_value: exactMatch DOID:0060897
property_value: exactMatch http://identifiers.org/omim/614203
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280133

[Term]
id: MONDO:0013626
name: psoriasis 14, pustular
def: "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acrodermatitis continua of Hallopeau" RELATED [OMIM:614204]
synonym: "generalized pustular psoriasis" RELATED [OMIM:614204]
synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Interleukin 36 receptor antagonist deficiency" RELATED [OMIM:614204]
synonym: "palmoplantar pustulosis" RELATED [OMIM:614204]
synonym: "psoriasis 14, pustular" EXACT [MONDO:Lexical, OMIM:614204]
synonym: "psoriasis 14, pustular; PSORS14" RELATED [OMIM:614204]
synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern]
synonym: "Psorp" RELATED [OMIM:614204]
synonym: "PSORS14" RELATED [MONDO:Lexical, OMIM:614204]
xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614204 {source="MONDO:equivalentTo"}
xref: SCTID:83839005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.45/0.24"}
is_a: MONDO:0005083 {source="DC-OMIM:614204", source="MONDO:Redundant", source="OMIM:614204"} ! psoriasis
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/omim/614204
property_value: exactMatch http://identifiers.org/snomedct/83839005

[Term]
id: MONDO:0013627
name: three M syndrome 3
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "3-M syndrome caused by mutation in CCDC8" EXACT [MONDO:design_pattern]
synonym: "3M syndrome 3" RELATED [OMIM:614205]
synonym: "3M3" RELATED [MONDO:Lexical, OMIM:614205]
synonym: "CCDC8 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "three M syndrome 3" EXACT [MONDO:Lexical, OMIM:614205]
synonym: "three M syndrome 3; 3M3" RELATED [OMIM:614205]
synonym: "three M syndrome type 3" EXACT [MONDORULE:1, OMIM:614205]
xref: OMIM:614205 {source="MONDO:equivalentTo"}
xref: UMLS:C3280146 {source="OMIM:614205", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007477 {source="DC-OMIM:614205", source="MONDO:Redundant", source="OMIM:614205"} ! 3-M syndrome
property_value: exactMatch http://identifiers.org/omim/614205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280146

[Term]
id: MONDO:0013628
name: hyperphosphatasia with intellectual disability syndrome 3
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 8" RELATED [OMIM:614207]
synonym: "HPMRS3" RELATED [MONDO:Lexical, OMIM:614207]
synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT [MONDO:Lexical, OMIM:614207]
synonym: "hyperphosphatasia with mental retardation syndrome 3; HPMRS3" RELATED [OMIM:614207]
synonym: "hyperphosphatasia with mental retardation syndrome type 3" EXACT [MONDORULE:1, OMIM:614207]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 17" RELATED [OMIM:614207]
synonym: "mental retardation, autosomal recessive 21" RELATED [OMIM:614207]
synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614207 {source="MONDO:equivalentTo"}
xref: UMLS:C3280153 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614207"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614207", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/614207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280153

[Term]
id: MONDO:0013629
name: MRT16
synonym: "mental retardation, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:614208]
synonym: "mental retardation, autosomal recessive 16; MRT16" RELATED [OMIM:614208]
synonym: "MRT16" EXACT [MONDO:Lexical, OMIM:614208]
xref: OMIM:614208 {source="MONDO:equivalentTo"}
xref: UMLS:C3280154 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614208"}
is_a: MONDO:0019502 {source="DC-OMIM:614208", source="OMIM:614208"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280154

[Term]
id: MONDO:0013630
name: Meckel syndrome, type 9
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B9D1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 9" EXACT [MONDO:Lexical, OMIM:614209]
synonym: "Meckel syndrome, type 9; MKS9" RELATED [OMIM:614209]
synonym: "MKS9" RELATED [MONDO:Lexical, OMIM:614209]
xref: OMIM:614209 {source="MONDO:equivalentTo"}
xref: UMLS:C3280155 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614209"}
is_a: MONDO:0018921 {source="DC-OMIM:614209", source="MONDO:Redundant", source="OMIM:614209"} ! Meckel syndrome
property_value: exactMatch http://identifiers.org/omim/614209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280155

[Term]
id: MONDO:0013631
name: LNCR5
synonym: "LNCR5" EXACT [MONDO:Lexical, OMIM:614210]
synonym: "lung cancer susceptibility 5" RELATED [MONDO:Lexical, OMIM:614210]
synonym: "lung cancer susceptibility 5; LNCR5" RELATED [OMIM:614210]
xref: OMIM:614210 {source="MONDO:equivalentTo"}
xref: UMLS:C3280156 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614210"}
is_a: MONDO:0008903 {source="DC-OMIM:614210", source="MONDOLEX:0013631"} ! lung cancer
property_value: exactMatch http://identifiers.org/omim/614210
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280156

[Term]
id: MONDO:0013632
name: autosomal dominant nonsyndromic deafness 33
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34." [DOID:0110562, PMID:19183916]
synonym: "autosomal dominant deafness 33" EXACT [DOID:0110562]
synonym: "autosomal dominant nonsyndromic deafness type 33" EXACT [DOID:0110562, MONDORULE:2]
synonym: "deafness, autosomal dominant 33" RELATED [MONDO:Lexical, OMIM:614211]
synonym: "deafness, autosomal dominant 33; DFNA33" RELATED [OMIM:614211]
synonym: "DFNA33" EXACT [DOID:0110562, MONDO:Lexical, OMIM:614211]
xref: DOID:0110562 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110562"}
xref: OMIM:614211 {source="MONDO:equivalentTo", source="DOID:0110562"}
is_a: MONDO:0019587 {source="DC-OMIM:614211", source="DOID:0110562", source="OMIM:614211"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1414002
property_value: exactMatch DOID:0110562
property_value: exactMatch http://identifiers.org/omim/614211

[Term]
id: MONDO:0013633
name: encephalopathy, acute, infection-induced, susceptibility to, 4
def: "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4; IIAE4" RELATED [OMIM:614212]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212]
synonym: "IIAE4" RELATED [MONDO:Lexical, OMIM:614212]
xref: OMIM:614212 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="DC-OMIM:614212", source="MONDO:Redundant", source="MONDOLEX:0013633", source="OMIM:614212"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0016991 {source="ORDO:263524/btnt"} ! acute necrotizing encephalopathy of childhood
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280160
property_value: exactMatch http://identifiers.org/omim/614212

[Term]
id: MONDO:0013634
name: neuropathy, hereditary sensory, type 2C
def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory neuropathy type 2C" RELATED [DOID:0070147]
synonym: "hereditary sensory neuropathy type IIC" EXACT [DOID:0070147]
synonym: "HSN2C" EXACT [DOID:0070147, MONDO:Lexical, OMIM:614213]
synonym: "KIF1A hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical, OMIM:614213]
synonym: "neuropathy, hereditary sensory, type IIC; HSN2C" RELATED [OMIM:614213]
xref: DOID:0070147 {source="MONDO:equivalentTo"}
xref: OMIM:614213 {source="MONDO:equivalentTo", source="DOID:0070147"}
xref: UMLS:C3280168 {source="OMIM:614213", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019941 {source="DOID:0070147", source="MONDO:Redundant", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
property_value: exactMatch DOID:0070147
property_value: exactMatch http://identifiers.org/omim/614213
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280168

[Term]
id: MONDO:0013635
name: Adams-Oliver syndrome 2
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Adams-Oliver syndrome 2" EXACT [MONDO:Lexical, OMIM:614219]
synonym: "Adams-Oliver syndrome 2; AOS2" RELATED [OMIM:614219]
synonym: "Adams-Oliver syndrome caused by mutation in DOCK6" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1, OMIM:614219]
synonym: "AOS2" RELATED [MONDO:Lexical, OMIM:614219]
synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614219 {source="MONDO:equivalentTo"}
xref: UMLS:C3280182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614219"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614219", source="ORDO:974/btnt"} ! Adams-Oliver syndrome
property_value: exactMatch http://identifiers.org/omim/614219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280182

[Term]
id: MONDO:0013636
name: primary biliary cholangitis 4
synonym: "biliary cirrhosis, primary, 4" RELATED [MONDO:Lexical, OMIM:614220]
synonym: "biliary cirrhosis, primary, 4; PBC4" RELATED [OMIM:614220]
synonym: "PBC4" RELATED [MONDO:Lexical, OMIM:614220]
xref: OMIM:614220 {source="MONDO:equivalentTo"}
xref: UMLS:C3280201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614220"}
is_a: MONDO:0005388 {source="DC-OMIM:614220", source="MONDOLEX:0013636", source="OMIM:614220"} ! primary biliary cholangitis
property_value: exactMatch http://identifiers.org/omim/614220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280201

[Term]
id: MONDO:0013637
name: primary biliary cholangitis 5
synonym: "biliary cirrhosis, primary, 5" RELATED [MONDO:Lexical, OMIM:614221]
synonym: "biliary cirrhosis, primary, 5; PBC5" RELATED [OMIM:614221]
synonym: "PBC5" RELATED [MONDO:Lexical, OMIM:614221]
xref: OMIM:614221 {source="MONDO:equivalentTo"}
xref: UMLS:C3280202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614221"}
is_a: MONDO:0005388 {source="DC-OMIM:614221", source="MONDOLEX:0013637", source="OMIM:614221"} ! primary biliary cholangitis
property_value: exactMatch http://identifiers.org/omim/614221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280202

[Term]
id: MONDO:0013638
name: Warburg micro syndrome 3
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "micro syndrome 3" EXACT [DOID:0110718, OMIM:614222]
synonym: "RAB18 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM3" EXACT [DOID:0110718, MONDO:Lexical, OMIM:614222]
synonym: "Warburg micro syndrome 3" EXACT [MONDO:Lexical, OMIM:614222]
synonym: "WARBURG micro syndrome 3; WARBM3" RELATED [OMIM:614222]
synonym: "Warburg micro syndrome caused by mutation in RAB18" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 3" EXACT [DOID:0110718, MONDORULE:1, OMIM:614222]
xref: DOID:0110718 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0110718"}
xref: OMIM:614222 {source="MONDO:equivalentTo", source="DOID:0110718"}
xref: UMLS:C3280203 {source="OMIM:614222", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016649 {source="DC-OMIM:614222", source="DOID:0110718", source="MONDO:Redundant", source="OMIM:614222"} ! Warburg micro syndrome
property_value: exactMatch DOID:0110718
property_value: exactMatch http://identifiers.org/omim/614222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280203

[Term]
id: MONDO:0013639
name: narcolepsy 6, susceptibility to
subset: predisposition
synonym: "narcolepsy 6, susceptibility to" RELATED [OMIM:614223]
synonym: "narcolepsy 6, susceptibility to; NRCLP6" RELATED [OMIM:614223]
synonym: "NRCLP6" EXACT [MONDO:Lexical, OMIM:614223]
xref: OMIM:614223 {source="MONDO:equivalentTo"}
is_a: MONDO:0016158 {source="DC-OMIM:614223"} ! narcolepsy-cataplexy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280204
property_value: exactMatch http://identifiers.org/omim/614223

[Term]
id: MONDO:0013640
name: familial retinal arterial macroaneurysm
subset: ordo_malformation_syndrome {source="Orphanet:284247"}
synonym: "Fram" EXACT [Orphanet:284247]
synonym: "RAMSVPS" RELATED [MONDO:Lexical, OMIM:614224]
synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247]
synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224]
synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis; RAMSVPS" RELATED [OMIM:614224]
xref: GARD:0012779 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="ORDO:284247/e"}
xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"}
xref: SCTID:764452004 {source="MONDO:equivalentTo"}
xref: UMLS:C3280205 {source="OMIM:614224", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015506 {source="Orphanet:284247"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015953 {source="Orphanet:284247"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0020238 {source="Orphanet:284247"} ! inherited vitreous-retinal disease
property_value: exactMatch http://identifiers.org/omim/614224
property_value: exactMatch http://identifiers.org/snomedct/764452004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280205
property_value: exactMatch Orphanet:284247

[Term]
id: MONDO:0013641
name: Warburg micro syndrome 2
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "micro syndrome 2" EXACT [DOID:0110717, OMIM:614225]
synonym: "RAB3GAP2 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM2" EXACT [DOID:0110717, MONDO:Lexical, OMIM:614225]
synonym: "Warburg micro syndrome 2" EXACT [MONDO:Lexical, OMIM:614225]
synonym: "WARBURG micro syndrome 2; WARBM2" RELATED [OMIM:614225]
synonym: "Warburg micro syndrome caused by mutation in RAB3GAP2" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 2" EXACT [DOID:0110717, MONDORULE:1, OMIM:614225]
xref: DOID:0110717 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0110717"}
xref: OMIM:614225 {source="MONDO:equivalentTo", source="DOID:0110717"}
xref: UMLS:C3280214 {source="OMIM:614225", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016649 {source="DC-OMIM:614225", source="DOID:0110717", source="MONDO:Redundant", source="OMIM:614225"} ! Warburg micro syndrome
property_value: exactMatch DOID:0110717
property_value: exactMatch http://identifiers.org/omim/614225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280214

[Term]
id: MONDO:0013642
name: holoprosencephaly 11
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDON holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "holoprosencephaly 11" EXACT [MONDO:Lexical, OMIM:614226]
synonym: "holoprosencephaly 11; HPE11" RELATED [OMIM:614226]
synonym: "holoprosencephaly caused by mutation in CDON" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 11" EXACT [DOID:0110877, MONDORULE:2, OMIM:614226]
synonym: "HPE11" EXACT [DOID:0110877, MONDO:Lexical, OMIM:614226]
xref: DOID:0110877 {source="MONDO:equivalentTo"}
xref: OMIM:614226 {source="DOID:0110877", source="MONDO:equivalentTo"}
xref: UMLS:C3280215 {source="NCBI:mim2gene_medline", source="OMIM:614226", source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="DC-OMIM:614226", source="DOID:0110877", source="MONDO:Redundant", source="OMIM:614226"} ! holoprosencephaly
property_value: exactMatch DOID:0110877
property_value: exactMatch http://identifiers.org/omim/614226
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280215

[Term]
id: MONDO:0013643
name: hyperuricemic nephropathy, familial juvenile type 3
synonym: "HNFJ3" EXACT [MONDO:Lexical, OMIM:614227]
synonym: "hyperuricemic nephropathy, familial juvenile, 3" RELATED [MONDO:Lexical, OMIM:614227]
synonym: "hyperuricemic nephropathy, familial juvenile, 3; HNFJ3" RELATED [OMIM:614227]
xref: OMIM:614227 {source="MONDO:equivalentTo"}
xref: UMLS:C3280216 {source="OMIM:614227", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000608 {source="DC-OMIM:614227", source="OMIM:614227"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280216

[Term]
id: MONDO:0013644
name: Charcot-Marie-Tooth disease axonal type 2O
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:284232"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2O" RELATED [GARD:0012434]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [OMIM:614228]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical, OMIM:614228]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2O; CMT2O" RELATED [OMIM:614228]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [DOID:0110175]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228]
synonym: "CMT2O" EXACT [MONDO:Lexical, OMIM:614228, Orphanet:284232]
synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110175 {source="MONDO:equivalentTo"}
xref: GARD:0012434 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:284232", source="ORDO:284232/attributed", source="ORDO:284232/ntbt", source="DOID:0110175"}
xref: OMIM:614228 {source="Orphanet:284232", source="ORDO:284232/e", source="MONDO:equivalentTo", source="DOID:0110175"}
xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source="DOID:0110175"}
xref: UMLS:C3280220 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614228"}
is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110175
property_value: exactMatch http://identifiers.org/omim/614228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280220
property_value: exactMatch Orphanet:284232

[Term]
id: MONDO:0013645
name: autosomal recessive spinocerebellar ataxia 11
def: "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:284271"}
synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271]
synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [DOID:0080063, MONDORULE:2, Orphanet:284271]
synonym: "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" EXACT [MONDO:design_pattern]
synonym: "SCAR11" EXACT [MONDO:Lexical, OMIM:614229, Orphanet:284271]
synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:614229]
synonym: "spinocerebellar ataxia, autosomal recessive 11; SCAR11" RELATED [OMIM:614229]
synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229]
synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080063 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="Orphanet:284271", source="ORDO:284271/attributed", source="ORDO:284271/ntbt"}
xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="ORDO:284271/e"}
xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"}
xref: UMLS:C3280226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614229"}
is_a: MONDO:0020047 {source="MONDO:Redundant", source="Orphanet:284271"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch DOID:0080063
property_value: exactMatch http://identifiers.org/omim/614229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280226
property_value: exactMatch Orphanet:284271

[Term]
id: MONDO:0013646
name: chromosome 8q21.11 deletion syndrome
def: "8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." [Orphanet:284160]
subset: ordo_malformation_syndrome {source="Orphanet:284160"}
synonym: "8q21.11 microdeletion syndrome" EXACT [DOID:0060425]
synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230]
synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160]
synonym: "deletion 8q21.11" EXACT [Orphanet:284160]
synonym: "monosomy 8q21.11" EXACT [Orphanet:284160]
xref: DOID:0060425 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="DOID:0060425", source="ORDO:284160/attributed", source="ORDO:284160/ntbt", source="Orphanet:284160"}
xref: OMIM:614230 {source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160", source="ORDO:284160/e"}
xref: Orphanet:284160 {source="MONDO:equivalentTo", source="DOID:0060425", source="OMIM:614230"}
xref: SCTID:718615003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3280231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614230"}
xref: UMLS:C4305343 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284160", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:614230", source="DOID:0060425"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:284160"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016907 {source="MONDOLEX:0013646", source="Orphanet:284160"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060425
property_value: exactMatch http://identifiers.org/omim/614230
property_value: exactMatch http://identifiers.org/snomedct/718615003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305343
property_value: exactMatch Orphanet:284160

[Term]
id: MONDO:0013647
name: primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
subset: ordo_disease {source="Orphanet:306558"}
synonym: "MEDS" RELATED [MONDO:Lexical, OMIM:614231]
synonym: "microcephaly, epilepsy, and diabetes syndrome" RELATED [MONDO:Lexical, OMIM:614231]
synonym: "microcephaly, epilepsy, and diabetes syndrome; MEDS" RELATED [OMIM:614231]
xref: OMIM:614231 {source="Orphanet:306558", source="ORDO:306558/e", source="MONDO:equivalentTo"}
xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"}
xref: UMLS:C3280240 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614231"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015655 {source="Orphanet:306558"} ! cerebral malformation with epilepsy
is_a: MONDO:0015888 {source="Orphanet:306558"} ! other rare diabetes mellitus
is_a: MONDO:0017119 {source="Orphanet:306558"} ! syndrome with microcephaly as major feature
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/omim/614231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280240
property_value: exactMatch Orphanet:306558

[Term]
id: MONDO:0013648
name: familial progressive hyperpigmentation
def: "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." [Orphanet:79146]
subset: ordo_disease {source="Orphanet:79146"}
synonym: "Fph" RELATED [OMIM:614233]
synonym: "FPH1" RELATED [MONDO:Lexical, OMIM:614233]
synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OMIM:614233]
synonym: "hyperpigmentation, familial progressive, 1; FPH1" RELATED [OMIM:614233]
synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146]
synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146]
synonym: "universal melanosis" EXACT [Orphanet:79146]
xref: ICD10:L81.4 {source="ORDO:79146/attributed", source="ORDO:79146/ntbt", source="Orphanet:79146"}
xref: OMIM:614233 {source="MONDO:equivalentTo", source="ORDO:79146/e", source="Orphanet:79146"}
xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"}
xref: SCTID:715630006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/2.04"}
xref: UMLS:C1840392 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="Orphanet:79146"}
xref: UMLS:CN205811 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019289 {source="Orphanet:79146", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2681535
property_value: exactMatch http://identifiers.org/omim/614233
property_value: exactMatch http://identifiers.org/snomedct/715630006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205811
property_value: exactMatch Orphanet:79146

[Term]
id: MONDO:0013649
name: hypotrichosis 9
def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3." [DOID:0110706, PMID:20054564]
synonym: "hypotrichosis 9" EXACT [MONDO:Lexical, OMIM:614237]
synonym: "hypotrichosis 9; HYPT9" RELATED [OMIM:614237]
synonym: "hypotrichosis type 9" EXACT [DOID:0110706, MONDORULE:1]
synonym: "HYPT9" RELATED [MONDO:Lexical, OMIM:614237]
synonym: "hypt9" EXACT [DOID:0110706]
xref: DOID:0110706 {source="MONDO:equivalentTo"}
xref: OMIM:614237 {source="MONDO:equivalentTo", source="DOID:0110706"}
xref: UMLS:C3280252 {source="NCBI:mim2gene_medline", source="OMIM:614237", source="MONDO:equivalentTo"}
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
property_value: exactMatch DOID:0110706
property_value: exactMatch http://identifiers.org/omim/614237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280252

[Term]
id: MONDO:0013650
name: hypotrichosis 10
def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3." [DOID:0110707, PMID:20544222]
synonym: "hypotrichosis 10" EXACT [MONDO:Lexical, OMIM:614238]
synonym: "hypotrichosis 10; HYPT10" RELATED [OMIM:614238]
synonym: "hypotrichosis type 10" EXACT [DOID:0110707, MONDORULE:2]
synonym: "HYPT10" RELATED [MONDO:Lexical, OMIM:614238]
synonym: "hypt10" EXACT [DOID:0110707]
xref: DOID:0110707 {source="MONDO:equivalentTo"}
xref: OMIM:614238 {source="MONDO:equivalentTo", source="DOID:0110707"}
xref: UMLS:C3280253 {source="OMIM:614238", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
property_value: exactMatch DOID:0110707
property_value: exactMatch http://identifiers.org/omim/614238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280253

[Term]
id: MONDO:0013651
name: intellectual disability, autosomal recessive 18
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic mental retardation-18" RELATED [GARD:0012233]
synonym: "MED23" RELATED [GARD:0012233]
synonym: "MED23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:614249]
synonym: "mental retardation, autosomal recessive 18; MRT18" RELATED [OMIM:614249]
synonym: "mental retardation, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:614249]
synonym: "MRT18" RELATED [MONDO:Lexical, OMIM:614249]
xref: GARD:0012233 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:614249 {source="MONDO:equivalentTo"}
xref: UMLS:C3280265 {source="OMIM:614249", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614249", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280265

[Term]
id: MONDO:0013652
name: narcolepsy 7
def: "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." [MONDO:design_pattern]
synonym: "MOG narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "narcolepsy 7" EXACT [MONDO:Lexical, OMIM:614250]
synonym: "narcolepsy 7; NRCLP7" RELATED [OMIM:614250]
synonym: "narcolepsy caused by mutation in MOG" EXACT [MONDO:design_pattern]
synonym: "narcolepsy type 7" EXACT [MONDORULE:1, OMIM:614250]
synonym: "NRCLP7" RELATED [MONDO:Lexical, OMIM:614250]
xref: OMIM:614250 {source="MONDO:equivalentTo"}
xref: UMLS:C3280266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614250"}
is_a: MONDO:0016158 {source="ORDO:2073/btnt"} ! narcolepsy-cataplexy syndrome
property_value: exactMatch http://identifiers.org/omim/614250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280266

[Term]
id: MONDO:0013653
name: Parkinson disease 18, autosomal dominant, susceptibility to
def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EIF4G1 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in EIF4G1" EXACT [MONDO:design_pattern]
synonym: "PARK18" RELATED [MONDO:Lexical, OMIM:614251]
synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:614251]
synonym: "Parkinson disease 18, autosomal dominant, susceptibility to; PARK18" RELATED [OMIM:614251]
synonym: "susceptibility to autosomal dominant Parkinson disease 18" RELATED [OMIM:614251]
xref: OMIM:614251 {source="MONDO:equivalentTo"}
xref: UMLS:C3280271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614251"}
is_a: MONDO:0018466 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! hereditary late onset Parkinson disease
is_a: MONDO:0020573 {source="OMIM:614251"} ! inherited disease susceptibility
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
relationship: predisposes_towards MONDO:0005180 ! Parkinson disease
property_value: exactMatch http://identifiers.org/omim/614251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280271

[Term]
id: MONDO:0013654
name: ANIB11
synonym: "aneurysm, intracranial BERRY, 11" RELATED [MONDO:Lexical, OMIM:614252]
synonym: "aneurysm, intracranial BERRY, 11; ANIB11" RELATED [OMIM:614252]
synonym: "ANIB11" EXACT [MONDO:Lexical, OMIM:614252]
xref: OMIM:614252 {source="MONDO:equivalentTo"}
xref: UMLS:C3280275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614252"}
is_a: MONDO:0016483 {source="DC-OMIM:614252", source="OMIM:614252"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/omim/614252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280275

[Term]
id: MONDO:0013655
name: intellectual disability, autosomal dominant 8
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 8" EXACT [DOID:0070038]
synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" EXACT [MONDO:design_pattern]
synonym: "GRIN1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 8" RELATED [MONDO:Lexical, OMIM:614254]
synonym: "mental retardation, autosomal dominant 8, formerly" RELATED [OMIM:614254]
synonym: "mental retardation, autosomal dominant 8; MRD8" RELATED [OMIM:614254]
synonym: "mental retardation, autosomal dominant type 8" EXACT [MONDORULE:1, OMIM:614254]
synonym: "MRD8" EXACT [DOID:0070038, MONDO:Lexical, OMIM:614254]
synonym: "NDHMSD" RELATED [OMIM:614254]
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [OMIM:614254]
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD" RELATED [OMIM:614254]
xref: DOID:0070038 {source="MONDO:equivalentTo"}
xref: OMIM:614254 {source="DOID:0070038", source="MONDO:equivalentTo"}
xref: UMLS:C3280282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614254"}
is_a: MONDO:0015802 {source="DC-OMIM:614254", source="DOID:0070038", source="MONDO:Redundant", source="OMIM:614254"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070038
property_value: exactMatch http://identifiers.org/omim/614254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280282

[Term]
id: MONDO:0013656
name: intellectual disability, autosomal dominant 9
def: "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." [NCIT:C133742]
synonym: "autosomal dominant mental retardation 9" EXACT [DOID:0070039]
synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "KIF1A autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 9" RELATED [MONDO:Lexical, OMIM:614255]
synonym: "mental retardation, autosomal dominant 9; MRD9" RELATED [OMIM:614255]
synonym: "mental retardation, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:614255]
synonym: "MRD9" EXACT [DOID:0070039, MONDO:Lexical, OMIM:614255]
xref: DOID:0070039 {source="MONDO:equivalentTo"}
xref: NCIT:C133742 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:614255 {source="MONDO:equivalentTo", source="DOID:0070039"}
xref: UMLS:C3280283 {source="OMIM:614255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133742"}
is_a: MONDO:0015802 {source="DC-OMIM:614255", source="DOID:0070039", source="MONDO:Redundant", source="OMIM:614255"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070039
property_value: exactMatch http://identifiers.org/omim/614255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280283
property_value: exactMatch NCIT:C133742

[Term]
id: MONDO:0013657
name: intellectual disability, autosomal dominant 10
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 10" EXACT [DOID:0070040]
synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [DOID:0070040]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2" EXACT [MONDO:design_pattern]
synonym: "CACNG2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 10" RELATED [MONDO:Lexical, OMIM:614256]
synonym: "mental retardation, autosomal dominant 10; MRD10" RELATED [OMIM:614256]
synonym: "mental retardation, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:614256]
synonym: "MRD10" EXACT [DOID:0070040, MONDO:Lexical, OMIM:614256]
xref: DOID:0070040 {source="MONDO:equivalentTo"}
xref: OMIM:614256 {source="MONDO:equivalentTo", source="DOID:0070040"}
xref: UMLS:C3280284 {source="OMIM:614256", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:614256", source="DOID:0070040", source="MONDO:Redundant", source="OMIM:614256"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070040
property_value: exactMatch http://identifiers.org/omim/614256
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280284

[Term]
id: MONDO:0013658
name: intellectual disability, autosomal dominant 11
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 11" EXACT [DOID:0070041]
synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [DOID:0070041]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1" EXACT [MONDO:design_pattern]
synonym: "EPB41L1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 11" RELATED [MONDO:Lexical, OMIM:614257]
synonym: "mental retardation, autosomal dominant 11; MRD11" RELATED [OMIM:614257]
synonym: "mental retardation, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:614257]
synonym: "MRD11" EXACT [DOID:0070041, MONDO:Lexical, OMIM:614257]
xref: DOID:0070041 {source="MONDO:equivalentTo"}
xref: OMIM:614257 {source="MONDO:equivalentTo", source="DOID:0070041"}
xref: UMLS:C3280285 {source="OMIM:614257", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:614257", source="DOID:0070041", source="MONDO:Redundant", source="OMIM:614257"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070041
property_value: exactMatch http://identifiers.org/omim/614257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280285

[Term]
id: MONDO:0013659
name: microcephaly-capillary malformation syndrome
subset: ordo_malformation_syndrome {source="Orphanet:294016"}
synonym: "MIC-CAP syndrome" EXACT [Orphanet:294016]
synonym: "MIC-CM syndrome" EXACT [Orphanet:294016]
synonym: "MICCAP" RELATED [MONDO:Lexical, OMIM:614261]
synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261]
synonym: "microcephaly-capillary malformation syndrome; MICCAP" RELATED [OMIM:614261]
synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016]
xref: ICD10:Q87.8 {source="ORDO:294016/attributed", source="ORDO:294016/ntbt", source="Orphanet:294016"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614261 {source="MONDO:equivalentTo", source="ORDO:294016/e", source="Orphanet:294016"}
xref: Orphanet:294016 {source="MONDO:equivalentTo", source="OMIM:614261"}
xref: SCTID:703369003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3280296 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614261"}
is_a: MONDO:0017119 {source="Orphanet:294016"} ! syndrome with microcephaly as major feature
relationship: disease_has_feature MONDO:0016231 ! capillary malformation
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:294016"} ! rare capillary malformation with associated anomalies
property_value: exactMatch http://identifiers.org/omim/614261
property_value: exactMatch http://identifiers.org/snomedct/703369003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280296
property_value: exactMatch Orphanet:294016

[Term]
id: MONDO:0013660
name: arthrogryposis, Perthes disease, and upward gaze palsy
synonym: "APUG" RELATED [MONDO:Lexical, OMIM:614262]
synonym: "arthrogryposis, Perthes disease, and upward gaze palsy" EXACT [MONDO:Lexical, OMIM:614262]
synonym: "arthrogryposis, Perthes disease, and upward gaze palsy; APUG" RELATED [OMIM:614262]
xref: OMIM:614262 {source="MONDO:equivalentTo"}
xref: UMLS:C3280309 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614262"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280309

[Term]
id: MONDO:0013661
name: combined malonic and methylmalonic acidemia
def: "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." [Orphanet:289504]
subset: ordo_disease {source="Orphanet:289504"}
synonym: "CMAMMA" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504]
synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504]
synonym: "combined malonic and methylmalonic aciduria; CMAMMA" RELATED [OMIM:614265]
xref: GARD:0010818 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E71.1 {source="ORDO:289504/attributed", source="ORDO:289504/ntbt", source="Orphanet:289504"}
xref: MESH:C580002 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614265 {source="MONDO:equivalentTo", source="ORDO:289504/e", source="Orphanet:289504"}
xref: Orphanet:289504 {source="MONDO:equivalentTo", source="OMIM:614265"}
xref: SCTID:702365002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3280314 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289504", source="OMIM:614265"}
is_a: MONDO:0002012 {source="MONDO:cjm", source="linkedlifedata"} ! methylmalonic acidemia
is_a: MONDO:0019215 {source="Orphanet:289504"} ! classic organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C580002
property_value: exactMatch http://identifiers.org/omim/614265
property_value: exactMatch http://identifiers.org/snomedct/702365002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280314
property_value: exactMatch Orphanet:289504

[Term]
id: MONDO:0013662
name: Barrett esophagus
def: "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" [NCIT:C2891]
synonym: "adenocarcinoma of esophagus" RELATED [OMIM:614266]
synonym: "Barrett esophagus" EXACT [DOID:9206, MTH:NOCODE, NCIT:C2891, OMIM:614266]
synonym: "Barrett metaplasia" RELATED [OMIM:614266]
synonym: "Barrett's esophagus" EXACT [NCIT:C2891]
synonym: "Barrett's esophagus with esophagitis" EXACT [DOID:9206]
synonym: "Barrett's oesophagus" EXACT [DOID:9206]
synonym: "Barrett's ulcer of esophagus" EXACT [DOID:9206]
synonym: "Barretts syndrome" EXACT [CSP2005:5000-0039, DOID:9206]
synonym: "BE" EXACT [NCIT:C2891]
synonym: "cello" EXACT [NCIT:C2891]
synonym: "CLE" EXACT [DOID:9206, NCIT:C2891]
synonym: "columnar epithelial-lined Lower esophagus" EXACT [NCIT:C2891]
synonym: "columnar-lined esophagus" EXACT [NCIT:C2891]
synonym: "ulcerative esophagitis" EXACT [DOID:9206]
xref: COHD:443344 {source="MONDO:equivalentTo"}
xref: DOID:9206 {source="MONDO:equivalentTo", source="EFO:0000280"}
xref: EFO:0000280 {source="DOID:9206", source="MONDO:equivalentTo"}
xref: ICD10:K22.7 {source="DOID:9206"}
xref: ICD10:K22.70 {source="DOID:9206"}
xref: ICD9:530.85 {source="DOID:9206", source="EFO:0000280"}
xref: MESH:D001471 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: NCIT:C2891 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: OMIM:614266 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: SCTID:196609006 {source="DOID:9206", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.33"}
is_a: MONDO:0003749 {source="DOID:9206", source="MESH:D001471", source="NCIT:C2891/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! esophageal disease
property_value: closeMatch http://identifiers.org/snomedct/155679007
property_value: closeMatch http://identifiers.org/snomedct/196603007
property_value: closeMatch http://identifiers.org/snomedct/235597001
property_value: closeMatch http://identifiers.org/snomedct/302914006
property_value: closeMatch http://identifiers.org/snomedct/76355008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004763
property_value: closeMatch Orphanet:1232
property_value: exactMatch DOID:9206
property_value: exactMatch http://identifiers.org/mesh/D001471
property_value: exactMatch http://identifiers.org/omim/614266
property_value: exactMatch http://identifiers.org/snomedct/196609006
property_value: exactMatch NCIT:C2891

[Term]
id: MONDO:0013663
name: platelet-activating factor acetylhydrolase deficiency (disease)
synonym: "PAFAD" RELATED [MONDO:Lexical, OMIM:614278]
synonym: "platelet-activating factor acetylhydrolase deficiency" EXACT [MONDO:ambiguous]
synonym: "platelet-activating factor acetylhydrolase deficiency" RELATED [MONDO:Lexical, OMIM:614278]
synonym: "platelet-activating factor acetylhydrolase deficiency; PAFAD" RELATED [OMIM:614278]
xref: HP:0040175 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:C566640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614278 {source="MONDO:equivalentTo"}
xref: UMLS:C3280315 {source="OMIM:614278", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866472
property_value: exactMatch http://identifiers.org/mesh/C566640
property_value: exactMatch http://identifiers.org/omim/614278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280315

[Term]
id: MONDO:0013664
name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
subset: ordo_disease {source="Orphanet:443087"}
synonym: "46,XY sex reversal 8" RELATED [MONDO:Lexical, OMIM:614279]
synonym: "46,XY sex reversal 8; SRXY8" RELATED [OMIM:614279]
synonym: "46,XY sex reversal type 8" EXACT [MONDORULE:1, OMIM:614279]
synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [OMIM:614279]
synonym: "SRXY8" RELATED [MONDO:Lexical, OMIM:614279]
xref: ICD10:E29.1 {source="ORDO:443087/attributed", source="ORDO:443087/ntbt", source="Orphanet:443087"}
xref: MESH:C564109 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614279 {source="MONDO:equivalentTo", source="ORDO:443087/e", source="Orphanet:443087"}
xref: Orphanet:443087 {source="MONDO:equivalentTo"}
xref: SCTID:49013001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C1839840 {source="OMIM:614279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:443087"}
is_a: MONDO:0010765 {source="DC-OMIM:614279", source="MESH:C564109", source="MONDOLEX:0013664", source="OMIM:614279"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018618 {source="Orphanet:443087"} ! 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
is_a: MONDO:0019597 ! 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
property_value: exactMatch http://identifiers.org/mesh/C564109
property_value: exactMatch http://identifiers.org/omim/614279
property_value: exactMatch http://identifiers.org/snomedct/49013001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839840
property_value: exactMatch Orphanet:443087

[Term]
id: MONDO:0013665
name: EJM9
subset: predisposition
synonym: "EJM9" EXACT [MONDO:Lexical, OMIM:614280]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 9" RELATED [MONDO:Lexical, OMIM:614280]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 9; EJM9" RELATED [OMIM:614280]
xref: OMIM:614280 {source="MONDO:equivalentTo"}
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280332
property_value: exactMatch http://identifiers.org/omim/614280

[Term]
id: MONDO:0013666
name: Stickler syndrome, type 5
def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A2" EXACT [MONDO:design_pattern]
synonym: "COL9A2 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical, OMIM:614284]
synonym: "STICKLER syndrome, type V; STL5" RELATED [OMIM:614284]
synonym: "STL5" RELATED [MONDO:Lexical, OMIM:614284]
xref: OMIM:614284 {source="MONDO:equivalentTo"}
xref: UMLS:C3280342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614284"}
is_a: MONDO:0016647 {source="MONDO:Redundant", source="ORDO:250984/btnt"} ! autosomal recessive Stickler syndrome
property_value: exactMatch http://identifiers.org/omim/614284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280342

[Term]
id: MONDO:0013667
name: obsolete myelodysplastic syndrome
is_obsolete: true
replaced_by: MONDO:0018881

[Term]
id: MONDO:0013668
name: tetrasomy 18p
def: "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." [Orphanet:3307]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3307"}
synonym: "chromosome 18p tetrasomy" RELATED [GARD:0000035]
synonym: "Isochromosome 18p" EXACT [GARD:0000035, Orphanet:3307]
synonym: "Isochromosome 18P syndrome" RELATED [OMIM:614290]
synonym: "tetrasomy 18p" EXACT [GARD:0000035, OMIM:614290]
synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035]
synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290]
synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307]
xref: GARD:0000035 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="ORDO:3307/attributed", source="ORDO:3307/ntbt", source="Orphanet:3307"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538306 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="ORDO:3307/e"}
xref: Orphanet:3307 {source="GARD:0000035", source="MONDO:equivalentTo", source="OMIM:614290"}
xref: SCTID:698849002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0795868 {source="GARD:0000035", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614290", source="Orphanet:3307", source="ORDO:3307/e"}
is_a: MONDO:0016951 {source="Orphanet:3307"} ! partial trisomy/tetrasomy of the short arm of chromosome 18
is_a: MONDO:0030502 ! tetrasomy
property_value: exactMatch http://identifiers.org/mesh/C538306
property_value: exactMatch http://identifiers.org/omim/614290
property_value: exactMatch http://identifiers.org/snomedct/698849002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795868
property_value: exactMatch Orphanet:3307

[Term]
id: MONDO:0013669
name: breast-ovarian cancer, familial, susceptibility to, 4
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "breast-ovarian cancer, familial, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614291]
synonym: "breast-ovarian cancer, familial, susceptibility to, 4; BROVCA4" RELATED [OMIM:614291]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614291]
synonym: "BROVCA4" RELATED [MONDO:Lexical, OMIM:614291]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" EXACT [MONDO:design_pattern]
synonym: "RAD51D hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:614291]
xref: OMIM:614291 {source="MONDO:equivalentTo"}
is_a: MONDO:0003582 {source="DC-OMIM:614291", source="MONDO:Redundant", source="OMIM:614291", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280345
property_value: exactMatch http://identifiers.org/omim/614291

[Term]
id: MONDO:0013670
name: myopia, high, with cataract and vitreoretinal degeneration
synonym: "MCVD" RELATED [MONDO:Lexical, OMIM:614292]
synonym: "myopia, high, with cataract and vitreoretinal degeneration" EXACT [MONDO:Lexical, OMIM:614292]
synonym: "myopia, high, with cataract and vitreoretinal degeneration; MCVD" RELATED [OMIM:614292]
xref: OMIM:614292 {source="MONDO:equivalentTo"}
xref: UMLS:C3280346 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614292"}
is_a: MONDO:0001384 {source="ORDO:98619/btnt"} ! myopia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0020207"} ! rare
property_value: exactMatch http://identifiers.org/omim/614292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280346

[Term]
id: MONDO:0013671
name: hydatidiform mole, recurrent, 2
def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "complete hydatidiform mole caused by mutation in KHDC3L" EXACT [MONDO:design_pattern]
synonym: "hydatidiform Mole, complete" RELATED [OMIM:614293]
synonym: "hydatidiform mole, recurrent, 2" EXACT [MONDO:Lexical, OMIM:614293]
synonym: "hydatidiform MOLE, recurrent, 2; HYDM2" RELATED [OMIM:614293]
synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1, OMIM:614293]
synonym: "HYDM2" RELATED [MONDO:Lexical, OMIM:614293]
synonym: "KHDC3L complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614293 {source="MONDO:equivalentTo"}
xref: UMLS:C3280352 {source="MONDO:equivalentTo", source="OMIM:614293"}
is_a: MONDO:0016785 {source="MONDO:Redundant", source="ORDO:254688/btnt"} ! complete hydatidiform mole
is_a: MONDO:0018944 {source="DC-OMIM:614293", source="MONDOLEX:0013671"} ! gestational trophoblastic neoplasm
relationship: excluded_subClassOf MONDO:0005010 ! coronary artery disease
property_value: exactMatch http://identifiers.org/omim/614293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280352

[Term]
id: MONDO:0013672
name: chromosome 15q25 deletion syndrome
synonym: "chromosome 15q25 deletion syndrome" EXACT [OMIM:614294]
xref: DOID:0060396 {source="MONDO:equivalentTo"}
xref: OMIM:614294 {source="DOID:0060396", source="MONDO:equivalentTo"}
xref: UMLS:C3280355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614294"}
is_a: MONDO:0000761 {source="DC-OMIM:614294", source="DOID:0060396"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch DOID:0060396
property_value: exactMatch http://identifiers.org/omim/614294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280355

[Term]
id: MONDO:0013673
name: Wolfram-like syndrome
def: "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." [Orphanet:411590]
subset: ordo_disease {source="Orphanet:411590"}
synonym: "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" RELATED [OMIM:614296]
synonym: "WFSL" RELATED [MONDO:Lexical, OMIM:614296]
synonym: "WOLFRAM-like syndrome, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614296]
synonym: "WOLFRAM-like syndrome, autosomal dominant; WFSL" RELATED [OMIM:614296]
xref: EFO:0009063 {source="MONDO:equivalentTo"}
xref: ICD10:E13.8 {source="ORDO:411590/attributed", source="ORDO:411590/ntbt", source="Orphanet:411590"}
xref: MESH:C565631 {source="MONDO:equivalentTo"}
xref: OMIM:614296 {source="MONDO:equivalentTo", source="ORDO:411590/e", source="Orphanet:411590"}
xref: Orphanet:411590 {source="MONDO:equivalentTo", source="OMIM:614296"}
xref: SCTID:734022008 {source="MONDO:equivalentTo"}
xref: UMLS:C3280358 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:411590", source="OMIM:614296"}
xref: UMLS:C4518338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018609 {source="Orphanet:411590"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019589 {source="Orphanet:411590"} ! syndromic genetic deafness
relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857286
property_value: exactMatch http://identifiers.org/mesh/C565631
property_value: exactMatch http://identifiers.org/omim/614296
property_value: exactMatch http://identifiers.org/snomedct/734022008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280358
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518338
property_value: exactMatch Orphanet:411590

[Term]
id: MONDO:0013674
name: neurodegeneration with brain iron accumulation 4
def: "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." [Orphanet:289560]
subset: ordo_disease {source="Orphanet:289560"}
synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560]
synonym: "mitochondrial Protein-associated neurodegeneration" EXACT [DOID:0110738, OMIM:614298]
synonym: "MPAN" EXACT [DOID:0110738, Orphanet:289560]
synonym: "NBIA due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560]
synonym: "NBIA4" EXACT [DOID:0110738, MONDO:Lexical, OMIM:614298, Orphanet:289560]
synonym: "neurodegeneration with brain iron accumulation 4" EXACT [MONDO:Lexical, OMIM:614298]
synonym: "neurodegeneration with brain iron accumulation 4; NBIA4" RELATED [OMIM:614298]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560]
synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560]
xref: DOID:0110738 {source="MONDO:equivalentTo"}
xref: GARD:0012569 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="DOID:0110738", source="ORDO:289560/attributed", source="ORDO:289560/ntbt", source="Orphanet:289560"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:614298 {source="DOID:0110738", source="MONDO:equivalentTo", source="ORDO:289560/e", source="Orphanet:289560"}
xref: Orphanet:289560 {source="DOID:0110738", source="MONDO:equivalentTo", source="OMIM:614298"}
xref: SCTID:709415008 {source="MONDO:kboom-pr-1.00/0.79/8.35", source="MONDO:equivalentTo"}
xref: UMLS:C3280371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614298"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0018307 {source="DC-OMIM:614298", source="DOID:0110738", source="MONDO:Redundant", source="OMIM:614298", source="Orphanet:289560"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0018609 {source="Orphanet:289560"} ! syndromic hereditary optic neuropathy
property_value: exactMatch DOID:0110738
property_value: exactMatch http://identifiers.org/omim/614298
property_value: exactMatch http://identifiers.org/snomedct/709415008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280371
property_value: exactMatch Orphanet:289560

[Term]
id: MONDO:0013675
name: multiple mitochondrial dysfunctions syndrome 2
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:401874"}
synonym: "BOLA3 deficiency" EXACT [Orphanet:401874]
synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" EXACT [MONDO:design_pattern]
synonym: "MMDS2" RELATED [MONDO:Lexical, OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2" RELATED [OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2; MMDS2" RELATED [OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299]
xref: DOID:0080134 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="Orphanet:401874", source="ORDO:401874/attributed", source="ORDO:401874/ntbt"}
xref: OMIM:614299 {source="ORDO:401874/e", source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo"}
xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"}
xref: UMLS:C3280378 {source="OMIM:614299", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome
property_value: exactMatch DOID:0080134
property_value: exactMatch http://identifiers.org/omim/614299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280378
property_value: exactMatch Orphanet:401874

[Term]
id: MONDO:0013676
name: hypermethioninemia due to adenosine kinase deficiency
def: "Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." [Orphanet:289290]
subset: ordo_disease {source="Orphanet:289290"}
synonym: "ADK hypermethioninemia" EXACT [DOID:0111038, Orphanet:289290]
synonym: "autosomal recessive mental retardation 8" EXACT [DOID:0111038]
synonym: "hypermethioninemia due to adenosine kinase deficiency" EXACT [OMIM:614300]
synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [DOID:0111038]
synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [DOID:0111038, Orphanet:289290]
synonym: "mental retardation, autosomal recessive 8, formerly" RELATED [OMIM:614300]
synonym: "MRT8" EXACT EXCLUDE [DOID:0111038]
xref: DOID:0111038 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:289290/attributed", source="ORDO:289290/ntbt", source="Orphanet:289290", source="DOID:0111038"}
xref: MESH:C567015 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614300 {source="MONDO:equivalentTo", source="ORDO:289290/e", source="Orphanet:289290", source="DOID:0111038"}
xref: Orphanet:289290 {source="OMIM:614300", source="MONDO:equivalentTo", source="DOID:0111038"}
xref: UMLS:C3280381 {source="OMIM:614300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038"} ! disorder of methionine catabolism
is_a: MONDO:0019058 {source="Orphanet:289290"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0111038
property_value: exactMatch http://identifiers.org/mesh/C567015
property_value: exactMatch http://identifiers.org/omim/614300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280381
property_value: exactMatch Orphanet:289290

[Term]
id: MONDO:0013677
name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" EXACT [MONDO:design_pattern]
synonym: "EDMD7" RELATED [MONDO:Lexical, OMIM:614302]
synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614302]
synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7" RELATED [OMIM:614302]
synonym: "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070252 {source="MONDO:equivalentTo"}
xref: OMIM:614302 {source="MONDO:equivalentTo"}
xref: UMLS:C3553060 {source="OMIM:614302", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
property_value: exactMatch DOID:0070252
property_value: exactMatch http://identifiers.org/omim/614302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553060

[Term]
id: MONDO:0013678
name: EDICT syndrome
def: "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." [Orphanet:293936]
subset: ordo_disease {source="Orphanet:293936"}
synonym: "autosomal dominant keratoconus with early-onset anterior polar cataracts" EXACT [Orphanet:293936]
synonym: "EDICT" RELATED [MONDO:Lexical, OMIM:614303]
synonym: "EDICT syndrome" EXACT [MONDO:Lexical, OMIM:614303]
synonym: "EDICT syndrome; EDICT" RELATED [OMIM:614303]
synonym: "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome" RELATED [OMIM:614303]
synonym: "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" EXACT [Orphanet:293936]
synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936]
synonym: "keratoconus with cataract" RELATED [OMIM:614303]
synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303]
synonym: "KTCNCT" EXACT [Orphanet:293936]
xref: OMIM:614303 {source="ORDO:293936/e", source="Orphanet:293936", source="MONDO:equivalentTo"}
xref: Orphanet:293936 {source="OMIM:614303", source="MONDO:equivalentTo"}
xref: SCTID:722439009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
xref: UMLS:C3280392 {source="NCBI:mim2gene_medline", source="OMIM:614303", source="MONDO:equivalentTo"}
is_a: MONDO:0020211 {source="Orphanet:293936"} ! syndromic keratoconus
property_value: exactMatch http://identifiers.org/omim/614303
property_value: exactMatch http://identifiers.org/snomedct/722439009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280392
property_value: exactMatch Orphanet:293936

[Term]
id: MONDO:0013679
name: sclerosteosis 2
def: "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:design_pattern]
synonym: "LRP4 sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sclerosteosis 2" EXACT [MONDO:Lexical, OMIM:614305]
synonym: "sclerosteosis 2; SOST2" RELATED [OMIM:614305]
synonym: "sclerosteosis caused by mutation in LRP4" EXACT [MONDO:design_pattern]
synonym: "sclerosteosis type 2" EXACT [DOID:0060757, MONDORULE:1, OMIM:614305]
synonym: "SOST2" EXACT [DOID:0060757, MONDO:Lexical, OMIM:614305]
xref: DOID:0060757 {source="MONDO:equivalentTo"}
xref: ICD10:M85.2 {source="DOID:0060757"}
xref: OMIM:614305 {source="MONDO:equivalentTo", source="DOID:0060757"}
xref: UMLS:C3280402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614305"}
is_a: MONDO:0017838 {source="DC-OMIM:614305", source="DOID:0060757", source="MONDO:Redundant", source="MONDOLEX:0013679", source="OMIM:614305"} ! sclerosteosis
property_value: exactMatch DOID:0060757
property_value: exactMatch http://identifiers.org/omim/614305
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280402

[Term]
id: MONDO:0013680
name: cognitive impairment with or without cerebellar ataxia
synonym: "CIAT" RELATED [MONDO:Lexical, OMIM:614306]
synonym: "cognitive impairment with or without cerebellar ataxia" EXACT [MONDO:Lexical, OMIM:614306]
synonym: "cognitive impairment with or without cerebellar ataxia; CIAT" RELATED [OMIM:614306]
xref: OMIM:614306 {source="MONDO:equivalentTo"}
xref: UMLS:C3280415 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614306"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280415

[Term]
id: MONDO:0013681
name: alpha-methylacyl-CoA racemase deficiency
def: "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." [NCIT:C119677]
synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT [MONDO:Lexical, OMIM:614307]
synonym: "ALPHA-methylacyl-CoA racemase deficiency; AMACRD" RELATED [OMIM:614307]
synonym: "AMACR" EXACT [NCIT:C119677]
synonym: "AMACR deficiency" EXACT EXCLUDE [DOID:0060602]
synonym: "Amacr deficiency" RELATED [OMIM:614307]
synonym: "AMACRD" RELATED [MONDO:Lexical, OMIM:614307]
xref: DOID:0060602 {source="MONDO:equivalentTo"}
xref: EFO:1001980 {source="MONDO:equivalentTo"}
xref: MESH:C565768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119677 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:614307 {source="MONDO:equivalentTo", source="DOID:0060602"}
xref: SCTID:700463002 {source="MONDO:equivalentTo"}
xref: UMLS:C3280428 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C119677", source="MONDO:equivalentTo", source="OMIM:614307"}
is_a: MONDO:0016133 {source="https://github.com/monarch-initiative/mondo/issues/1196"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017753 {source="https://github.com/monarch-initiative/mondo/issues/1196"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858325
property_value: exactMatch DOID:0060602
property_value: exactMatch http://identifiers.org/mesh/C565768
property_value: exactMatch http://identifiers.org/omim/614307
property_value: exactMatch http://identifiers.org/snomedct/700463002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280428
property_value: exactMatch NCIT:C119677

[Term]
id: MONDO:0013682
name: VUR4
synonym: "vesicoureteral reflux 4" RELATED [MONDO:Lexical, OMIM:614317]
synonym: "vesicoureteral reflux 4; VUR4" RELATED [OMIM:614317]
synonym: "VUR4" EXACT [MONDO:Lexical, OMIM:614317]
xref: OMIM:614317 {source="MONDO:equivalentTo"}
xref: UMLS:C3280439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614317"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/614317
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280439

[Term]
id: MONDO:0013683
name: VUR5
synonym: "vesicoureteral reflux 5" RELATED [MONDO:Lexical, OMIM:614318]
synonym: "vesicoureteral reflux 5; VUR5" RELATED [OMIM:614318]
synonym: "VUR5" EXACT [MONDO:Lexical, OMIM:614318]
xref: OMIM:614318 {source="MONDO:equivalentTo"}
xref: UMLS:C3280440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614318"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/614318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280440

[Term]
id: MONDO:0013684
name: VUR6
synonym: "vesicoureteral reflux 6" RELATED [MONDO:Lexical, OMIM:614319]
synonym: "vesicoureteral reflux 6; VUR6" RELATED [OMIM:614319]
synonym: "VUR6" EXACT [MONDO:Lexical, OMIM:614319]
xref: OMIM:614319 {source="MONDO:equivalentTo"}
xref: UMLS:C3280441 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614319"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/614319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280441

[Term]
id: MONDO:0013685
name: pancreatic cancer, susceptibility to, 4
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BRCA1 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial pancreatic carcinoma caused by mutation in BRCA1" EXACT [MONDO:design_pattern]
synonym: "pancreatic cancer, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614320]
synonym: "pancreatic cancer, susceptibility to, 4; PNCA4" RELATED [OMIM:614320]
synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614320]
synonym: "PNCA4" RELATED [MONDO:Lexical, OMIM:614320]
synonym: "susceptibility to pancreatic cancer 4" RELATED [OMIM:614320]
xref: OMIM:614320 {source="MONDO:equivalentTo"}
is_a: MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280442
property_value: exactMatch http://identifiers.org/omim/614320

[Term]
id: MONDO:0013686
name: distal myopathy, Tateyama type
def: "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." [Orphanet:488650]
subset: ordo_disease
synonym: "MPDT" RELATED [MONDO:Lexical, OMIM:614321]
synonym: "myopathy, distal, Tateyama type" RELATED [MONDO:Lexical, OMIM:614321]
synonym: "myopathy, distal, Tateyama type; MPDT" RELATED [OMIM:614321]
xref: OMIM:614321 {source="MONDO:equivalentTo", source="Orphanet:488650"}
xref: Orphanet:488650 {source="MONDO:equivalentTo"}
xref: SCTID:711265009 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C3280443 {source="OMIM:614321", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:488650"} ! autosomal dominant distal myopathy
property_value: exactMatch http://identifiers.org/omim/614321
property_value: exactMatch http://identifiers.org/snomedct/711265009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280443
property_value: exactMatch Orphanet:488650

[Term]
id: MONDO:0013687
name: autosomal recessive spinocerebellar ataxia 12
def: "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." [Orphanet:284282]
subset: ordo_disease {source="Orphanet:284282"}
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" EXACT []
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [DOID:0080060, MONDORULE:2, Orphanet:284282]
synonym: "SCAR12" EXACT [MONDO:Lexical, OMIM:614322, Orphanet:284282]
synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED [OMIM:614322]
synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:614322]
synonym: "spinocerebellar ataxia, autosomal recessive 12; SCAR12" RELATED [OMIM:614322]
synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:614322]
synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080060 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="Orphanet:284282", source="ORDO:284282/attributed", source="ORDO:284282/ntbt"}
xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="DOID:0080060", source="ORDO:284282/e"}
xref: Orphanet:284282 {source="OMIM:614322", source="MONDO:equivalentTo"}
xref: UMLS:C3280452 {source="OMIM:614322", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018446 {source="MONDO:Redundant", source="MONDOLEX:0013687", source="Orphanet:284282"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
property_value: exactMatch DOID:0080060
property_value: exactMatch http://identifiers.org/omim/614322
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280452
property_value: exactMatch Orphanet:284282

[Term]
id: MONDO:0013688
name: linear and whorled nevoid hypermelanosis
def: "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system , musculoskeletal system , and heart. While most cases of LWNH are sporadic , apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism ." [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis]
subset: gard_rare {source="GARD:0011004"}
subset: ordo_disease {source="Orphanet:79150"}
synonym: "Becker Nevus" EXACT [NCIT:C3924]
synonym: "Becker's Nevus" EXACT [NCIT:C3924]
synonym: "hyperpigmentation, progressive cribriform and zosteriform" RELATED [OMIM:614323]
synonym: "linear and whorled hypermelanosis" RELATED [GARD:0011004]
synonym: "linear papular ectodermal-mesodermal hamartoma" EXACT [NCIT:C3924]
synonym: "LWNH" RELATED [MONDO:Lexical, OMIM:614323]
synonym: "melanosis Neviformis" EXACT [NCIT:C3924]
synonym: "nevoid hypermelanosis, linear and whorled" RELATED [GARD:0011004, MONDO:Lexical, OMIM:614323]
synonym: "nevoid hypermelanosis, linear and whorled; LWNH" RELATED [OMIM:614323]
synonym: "pigmented hairy Epidermal Nevus" EXACT [NCIT:C3924]
synonym: "pigmented hairy Nevus of Becker" EXACT [NCIT:C3924]
synonym: "progressive cribriform and zosteriform hyperpigmentation" EXACT [NCIT:C3924]
synonym: "reticulate hyperpigmentation of Iijima" RELATED [GARD:0011004]
synonym: "zebra-like hyperpigmentation" RELATED [GARD:0011004]
synonym: "zosteriform hyperpigmentation" RELATED [GARD:0011004]
synonym: "zosteriform lentiginous nevus" RELATED [GARD:0011004]
xref: GARD:0011004 {source="MONDO:equivalentTo"}
xref: ICD10:L81.4 {source="Orphanet:79150", source="ORDO:79150/attributed", source="ORDO:79150/ntbt"}
xref: NCIT:C3924 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: OMIM:614323 {source="ORDO:79150/e", source="MONDO:equivalentTo", source="Orphanet:79150"}
xref: Orphanet:79150 {source="OMIM:614323", source="MONDO:equivalentTo"}
xref: SCTID:403803002 {source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
xref: UMLS:C0263579 {source="NCIT:C3924", source="OMIM:614323", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:C1304501 {source="ORDO:79150/e", source="OMIM:614323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79150"}
is_a: MONDO:0006499 {source="NCIT:C3924"} ! hamartoma (disease)
is_a: MONDO:0011500 ! Becker nevus syndrome
is_a: MONDO:0019289 {source="Orphanet:79150", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/omim/614323
property_value: exactMatch http://identifiers.org/snomedct/403803002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304501
property_value: exactMatch NCIT:C3924
property_value: exactMatch Orphanet:79150
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis xsd:anyURI {source="GARD:0011004"}

[Term]
id: MONDO:0013689
name: ovarian dysgenesis 3
def: "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" EXACT [MONDO:design_pattern]
synonym: "ODG3" RELATED [MONDO:Lexical, OMIM:614324]
synonym: "ovarian dysgenesis 3" EXACT [MONDO:Lexical, OMIM:614324]
synonym: "ovarian dysgenesis 3; ODG3" RELATED [OMIM:614324]
synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1, OMIM:614324]
synonym: "PSMC3IP 46 XX gonadal dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614324 {source="MONDO:equivalentTo"}
xref: UMLS:C3280471 {source="OMIM:614324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009299 {source="MONDO:Redundant", source="MONDOLEX:0013689", source="OMIM:614324", source="ORDO:243/btnt"} ! 46 XX gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/614324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280471

[Term]
id: MONDO:0013690
name: Pitt-Hopkins-like syndrome 2
def: "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NRXN1 Pitt-Hopkins-like syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pitt-Hopkins-like syndrome 2" EXACT [MONDO:Lexical, OMIM:614325]
synonym: "Pitt-Hopkins-like syndrome 2; PTHSL2" RELATED [OMIM:614325]
synonym: "Pitt-Hopkins-like syndrome caused by mutation in NRXN1" EXACT [MONDO:design_pattern]
synonym: "Pitt-Hopkins-like syndrome type 2" EXACT [MONDORULE:1, OMIM:614325]
synonym: "PTHSL2" RELATED [MONDO:Lexical, OMIM:614325]
xref: OMIM:614325 {source="MONDO:equivalentTo"}
xref: UMLS:C3280479 {source="NCBI:mim2gene_medline", source="OMIM:614325", source="MONDO:equivalentTo"}
is_a: MONDO:0016377 {source="MONDO:Redundant", source="ORDO:221150/btnt"} ! Pitt-Hopkins-like syndrome
property_value: exactMatch http://identifiers.org/omim/614325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280479

[Term]
id: MONDO:0013691
name: Feingold syndrome type 2
def: "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." [Orphanet:391646]
subset: ordo_clinical_subtype {source="Orphanet:391646"}
synonym: "brachydactyly with short stature and microcephaly" RELATED [OMIM:614326]
synonym: "brachydactyly-short stature-microcephaly syndrome" EXACT [Orphanet:391646]
synonym: "Brunner-Winter syndrome type 2" EXACT [Orphanet:391646]
synonym: "Feingold syndrome 2" RELATED [MONDO:Lexical, OMIM:614326]
synonym: "Feingold syndrome 2; FGLDS2" RELATED [OMIM:614326]
synonym: "Feingold syndrome type 2" EXACT [MONDORULE:1, OMIM:614326]
synonym: "FGLDS2" EXACT [MONDO:Lexical, OMIM:614326, Orphanet:391646]
synonym: "FS2" EXACT [Orphanet:391646]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2" EXACT [Orphanet:391646]
synonym: "MMT type 2" EXACT [Orphanet:391646]
xref: ICD10:Q87.8 {source="ORDO:391646/attributed", source="ORDO:391646/ntbt", source="Orphanet:391646"}
xref: OMIM:614326 {source="MONDO:equivalentTo", source="Orphanet:391646", source="ORDO:391646/e"}
xref: Orphanet:391646 {source="OMIM:614326", source="MONDO:equivalentTo"}
xref: UMLS:C3280489 {source="OMIM:614326", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015267 {source="DC-OMIM:614326", source="MONDO:Redundant", source="OMIM:614326", source="Orphanet:391646"} ! Feingold syndrome
property_value: exactMatch http://identifiers.org/omim/614326
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280489
property_value: exactMatch Orphanet:391646

[Term]
id: MONDO:0013692
name: BAP1-related tumor predisposition syndrome
def: "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." [Orphanet:289539]
subset: ordo_disease {source="Orphanet:289539"}
synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219]
synonym: "TPDS" RELATED [MONDO:Lexical, OMIM:614327]
synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327]
synonym: "tumor predisposition syndrome; TPDS" RELATED [OMIM:614327]
synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539]
xref: GARD:0013219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:614327 {source="MONDO:equivalentTo", source="ORDO:289539/e", source="Orphanet:289539"}
xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"}
xref: SCTID:765057007 {source="MONDO:equivalentTo"}
xref: UMLS:C3280492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614327"}
is_a: MONDO:0015356 {source="Orphanet:289539"} ! hereditary neoplastic syndrome
property_value: exactMatch http://identifiers.org/omim/614327
property_value: exactMatch http://identifiers.org/snomedct/765057007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280492
property_value: exactMatch Orphanet:289539

[Term]
id: MONDO:0013693
name: inflammatory skin and bowel disease, neonatal, 1
def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADAM17 neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory skin and bowel disease, neonatal, 1" EXACT [MONDO:Lexical, OMIM:614328]
synonym: "inflammatory skin and bowel disease, neonatal, 1; NISBD1" RELATED [OMIM:614328]
synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1, OMIM:614328]
synonym: "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17" EXACT [MONDO:design_pattern]
synonym: "NISBD1" RELATED [MONDO:Lexical, OMIM:614328]
xref: OMIM:614328 {source="MONDO:equivalentTo"}
xref: UMLS:C3280501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614328"}
is_a: MONDO:0017411 {source="DC-OMIM:614328", source="MONDO:Redundant", source="OMIM:614328", source="ORDO:294023/btnt"} ! neonatal inflammatory skin and bowel disease
property_value: exactMatch http://identifiers.org/omim/614328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280501

[Term]
id: MONDO:0013694
name: MRT31
synonym: "mental retardation, autosomal recessive 31" RELATED [MONDO:Lexical, OMIM:614329]
synonym: "mental retardation, autosomal recessive 31; MRT31" RELATED [OMIM:614329]
synonym: "MRT31" EXACT [MONDO:Lexical, OMIM:614329]
xref: OMIM:614329 {source="MONDO:equivalentTo"}
xref: UMLS:C3280523 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614329"}
is_a: MONDO:0019502 {source="DC-OMIM:614329", source="OMIM:614329"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280523

[Term]
id: MONDO:0013695
name: colorectal cancer, hereditary nonpolyposis, type 6
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [OMIM:614331]
synonym: "colorectal cancer, hereditary nonpolyposis, type 6" EXACT [MONDO:Lexical, OMIM:614331]
synonym: "colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6" RELATED [OMIM:614331]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2" EXACT [MONDO:design_pattern]
synonym: "HNPCC6" RELATED [MONDO:Lexical, OMIM:614331]
synonym: "TGFBR2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070273 {source="MONDO:equivalentTo"}
xref: MESH:C566039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614331 {source="MONDO:equivalentTo"}
xref: UMLS:C1860896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614331"}
is_a: MONDO:0005835 {source="DC-OMIM:614331"} ! Lynch syndrome
property_value: exactMatch DOID:0070273
property_value: exactMatch http://identifiers.org/mesh/C566039
property_value: exactMatch http://identifiers.org/omim/614331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860896

[Term]
id: MONDO:0013696
name: chromosome 2P16.3 deletion syndrome
synonym: "chromosome 2P16.3 deletion syndrome" EXACT [OMIM:614332]
synonym: "schizophrenia 17" RELATED [OMIM:614332]
xref: OMIM:614332 {source="MONDO:equivalentTo"}
xref: UMLS:C3808494 {source="OMIM:614332", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:614332"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005090 ! schizophrenia (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280524
property_value: exactMatch http://identifiers.org/omim/614332
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808494

[Term]
id: MONDO:0013697
name: MRT29
synonym: "mental retardation, autosomal recessive 29" RELATED [MONDO:Lexical, OMIM:614333]
synonym: "mental retardation, autosomal recessive 29; MRT29" RELATED [OMIM:614333]
synonym: "MRT29" EXACT [MONDO:Lexical, OMIM:614333]
xref: OMIM:614333 {source="MONDO:equivalentTo"}
xref: UMLS:C3280525 {source="OMIM:614333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614333", source="OMIM:614333"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280525

[Term]
id: MONDO:0013698
name: arthrogryposis, distal, type 1B
synonym: "arthrogryposis, distal, type 1B" EXACT [MONDO:Lexical, OMIM:614335]
synonym: "arthrogryposis, distal, type 1B; DA1B" RELATED [OMIM:614335]
synonym: "DA1B" RELATED [MONDO:Lexical, OMIM:614335]
xref: OMIM:614335 {source="MONDO:equivalentTo"}
xref: UMLS:C3280526 {source="OMIM:614335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015240 {source="MONDOLEX:0013698", source="ORDO:1146/btnt"} ! digitotalar dysmorphism
property_value: exactMatch http://identifiers.org/omim/614335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280526

[Term]
id: MONDO:0013699
name: colorectal cancer, hereditary nonpolyposis, type 4
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "colorectal cancer, hereditary nonpolyposis, type 4" EXACT [MONDO:Lexical, OMIM:614337]
synonym: "colorectal cancer, hereditary nonpolyposis, type 4; HNPCC4" RELATED [OMIM:614337]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in PMS2" EXACT [MONDO:design_pattern]
synonym: "HNPCC4" RELATED [MONDO:Lexical, OMIM:614337]
synonym: "PMS2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070275 {source="MONDO:equivalentTo"}
xref: MESH:C563971 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614337 {source="MONDO:equivalentTo"}
xref: UMLS:C1838333 {source="OMIM:614337", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005835 {source="DC-OMIM:614337"} ! Lynch syndrome
property_value: exactMatch DOID:0070275
property_value: exactMatch http://identifiers.org/mesh/C563971
property_value: exactMatch http://identifiers.org/omim/614337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838333

[Term]
id: MONDO:0013700
name: pancreatic triacylglycerol lipase deficiency
def: "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." [NCIT:C129030]
subset: ordo_disease {source="Orphanet:309031"}
synonym: "colipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "lipase and colipase, deficiency of" RELATED [OMIM:614338]
synonym: "lipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "pancreatic colipase deficiency" RELATED [OMIM:614338]
synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338]
synonym: "pancreatic lipase deficiency; PNLIPD" RELATED [OMIM:614338]
synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031]
synonym: "PL deficiency" RELATED [OMIM:614338]
synonym: "PNLIPD" RELATED [MONDO:Lexical, OMIM:614338]
xref: ICD10:K90.3 {source="MONDO:relatedTo", source="Orphanet:309031", source="ORDO:309031/attributed", source="ORDO:309031/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129030 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
xref: OMIM:614338 {source="ORDO:309031/e", source="Orphanet:309031", source="MONDO:equivalentTo"}
xref: Orphanet:309031 {source="MONDO:equivalentTo", source="OMIM:614338"}
xref: SCTID:78960005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.45"}
xref: UMLS:C0268240 {source="ORDO:309031/e", source="Orphanet:309031", source="MONDO:equivalentTo"}
is_a: MONDO:0017709 {source="Orphanet:309031"} ! disorder of lipid absorption and transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280527
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280528
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280530
property_value: exactMatch http://identifiers.org/omim/614338
property_value: exactMatch http://identifiers.org/snomedct/78960005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268240
property_value: exactMatch NCIT:C129030
property_value: exactMatch Orphanet:309031

[Term]
id: MONDO:0013701
name: MRT32
synonym: "mental retardation, autosomal recessive 32" RELATED [MONDO:Lexical, OMIM:614339]
synonym: "mental retardation, autosomal recessive 32; MRT32" RELATED [OMIM:614339]
synonym: "moved to 607596" RELATED [OMIM:614339]
synonym: "MRT32" EXACT [MONDO:Lexical, OMIM:614339]
xref: OMIM:614339 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614339"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280537
property_value: exactMatch http://identifiers.org/omim/614339

[Term]
id: MONDO:0013702
name: intellectual disability, autosomal recessive 27
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern]
synonym: "LINS1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 27" RELATED [MONDO:Lexical, OMIM:614340]
synonym: "mental retardation, autosomal recessive 27; MRT27" RELATED [OMIM:614340]
synonym: "mental retardation, autosomal recessive type 27" EXACT [MONDORULE:2, OMIM:614340]
synonym: "MRT27" RELATED [MONDO:Lexical, OMIM:614340]
xref: OMIM:614340 {source="MONDO:equivalentTo"}
xref: UMLS:C3280538 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614340"}
is_a: MONDO:0019502 {source="DC-OMIM:614340", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280538

[Term]
id: MONDO:0013703
name: MRT33
synonym: "mental retardation, autosomal recessive 33" RELATED [MONDO:Lexical, OMIM:614341]
synonym: "mental retardation, autosomal recessive 33; MRT33" RELATED [OMIM:614341]
synonym: "MRT33" EXACT [MONDO:Lexical, OMIM:614341]
xref: OMIM:614341 {source="MONDO:equivalentTo"}
xref: UMLS:C3280539 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614341"}
is_a: MONDO:0019502 {source="DC-OMIM:614341", source="OMIM:614341"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280539

[Term]
id: MONDO:0013704
name: MRT30
synonym: "mental retardation, autosomal recessive 30" RELATED [MONDO:Lexical, OMIM:614342]
synonym: "mental retardation, autosomal recessive 30; MRT30" RELATED [OMIM:614342]
synonym: "MRT30" EXACT [MONDO:Lexical, OMIM:614342]
xref: OMIM:614342 {source="MONDO:equivalentTo"}
xref: UMLS:C3280540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614342"}
is_a: MONDO:0019502 {source="DC-OMIM:614342", source="OMIM:614342"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280540

[Term]
id: MONDO:0013705
name: MRT19
synonym: "mental retardation, autosomal recessive 19" RELATED [MONDO:Lexical, OMIM:614343]
synonym: "mental retardation, autosomal recessive 19; MRT19" RELATED [OMIM:614343]
synonym: "MRT19" EXACT [MONDO:Lexical, OMIM:614343]
xref: OMIM:614343 {source="MONDO:equivalentTo"}
xref: UMLS:C3280541 {source="OMIM:614343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614343", source="OMIM:614343"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280541

[Term]
id: MONDO:0013706
name: MRT23
synonym: "mental retardation, autosomal recessive 23" RELATED [MONDO:Lexical, OMIM:614344]
synonym: "mental retardation, autosomal recessive 23; MRT23" RELATED [OMIM:614344]
synonym: "MRT23" EXACT [MONDO:Lexical, OMIM:614344]
xref: OMIM:614344 {source="MONDO:equivalentTo"}
xref: UMLS:C3280542 {source="OMIM:614344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614344", source="OMIM:614344"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280542

[Term]
id: MONDO:0013707
name: MRT24
synonym: "mental retardation, autosomal recessive 24" RELATED [MONDO:Lexical, OMIM:614345]
synonym: "mental retardation, autosomal recessive 24; MRT24" RELATED [OMIM:614345]
synonym: "MRT24" EXACT [MONDO:Lexical, OMIM:614345]
xref: OMIM:614345 {source="MONDO:equivalentTo"}
xref: UMLS:C3280543 {source="OMIM:614345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614345", source="OMIM:614345"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280543

[Term]
id: MONDO:0013708
name: MRT25
synonym: "mental retardation, autosomal recessive 25" RELATED [MONDO:Lexical, OMIM:614346]
synonym: "mental retardation, autosomal recessive 25; MRT25" RELATED [OMIM:614346]
synonym: "MRT25" EXACT [MONDO:Lexical, OMIM:614346]
xref: OMIM:614346 {source="MONDO:equivalentTo"}
xref: UMLS:C3280544 {source="OMIM:614346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614346", source="OMIM:614346"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280544

[Term]
id: MONDO:0013709
name: MRT28
synonym: "mental retardation, autosomal recessive 28" RELATED [MONDO:Lexical, OMIM:614347]
synonym: "mental retardation, autosomal recessive 28; MRT28" RELATED [OMIM:614347]
synonym: "MRT28" EXACT [MONDO:Lexical, OMIM:614347]
xref: OMIM:614347 {source="MONDO:equivalentTo"}
xref: UMLS:C3280545 {source="NCBI:mim2gene_medline", source="OMIM:614347", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614347", source="OMIM:614347"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280545

[Term]
id: MONDO:0013710
name: colorectal cancer, hereditary nonpolyposis, type 5
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "colorectal cancer, hereditary nonpolyposis, type 5" EXACT [MONDO:Lexical, OMIM:614350]
synonym: "colorectal cancer, hereditary nonpolyposis, type 5; HNPCC5" RELATED [OMIM:614350]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in MSH6" EXACT [MONDO:design_pattern]
synonym: "HNPCC5" RELATED [MONDO:Lexical, OMIM:614350]
synonym: "MSH6 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070272 {source="MONDO:equivalentTo"}
xref: MESH:C563456 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614350 {source="MONDO:equivalentTo"}
xref: UMLS:C1833477 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614350"}
is_a: MONDO:0005835 {source="DC-OMIM:614350"} ! Lynch syndrome
property_value: exactMatch DOID:0070272
property_value: exactMatch http://identifiers.org/mesh/C563456
property_value: exactMatch http://identifiers.org/omim/614350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833477

[Term]
id: MONDO:0013711
name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
subset: ordo_disease {source="Orphanet:397744"}
synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369]
synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss; PNMHH" RELATED [OMIM:614369]
synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744]
synonym: "PNMHH" RELATED [MONDO:Lexical, OMIM:614369]
xref: ICD10:G60.0 {source="ORDO:397744/attributed", source="ORDO:397744/ntbt", source="Orphanet:397744"}
xref: OMIM:614369 {source="MONDO:equivalentTo", source="ORDO:397744/e", source="Orphanet:397744"}
xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"}
xref: UMLS:C3280556 {source="NCBI:mim2gene_medline", source="OMIM:614369", source="MONDO:equivalentTo"}
is_a: MONDO:0015362 {source="Orphanet:397744"} ! autosomal dominant distal hereditary motor neuropathy
is_a: MONDO:0016108 {source="Orphanet:397744"} ! autosomal dominant distal myopathy
is_a: MONDO:0019589 {source="Orphanet:397744"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/614369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280556
property_value: exactMatch Orphanet:397744

[Term]
id: MONDO:0013712
name: surfactant metabolism dysfunction, pulmonary, 5
def: "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Csf2Rb deficiency" RELATED [OMIM:614370]
synonym: "CSF2RB hereditary pulmonary alveolar proteinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" EXACT [MONDO:design_pattern]
synonym: "Pap due to Csf2Rb deficiency" RELATED [OMIM:614370]
synonym: "pulmonary alveolar proteinosis 5" RELATED [OMIM:614370]
synonym: "SMDP5" RELATED [MONDO:Lexical, OMIM:614370]
synonym: "surfactant metabolism dysfunction, pulmonary, 5" EXACT [MONDO:Lexical, OMIM:614370]
synonym: "surfactant metabolism dysfunction, pulmonary, 5; SMDP5" RELATED [OMIM:614370]
synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE:1, OMIM:614370]
xref: OMIM:614370 {source="MONDO:equivalentTo"}
xref: UMLS:C3280574 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614370"}
is_a: MONDO:0012580 {source="MONDO:Redundant", source="OMIM:614370", source="ORDO:264675/btnt"} ! hereditary pulmonary alveolar proteinosis
property_value: exactMatch http://identifiers.org/omim/614370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280574

[Term]
id: MONDO:0013713
name: dengue virus, susceptibility to
subset: predisposition
synonym: "Dengue fever, protection against" RELATED [OMIM:614371]
synonym: "Dengue fever, susceptibility to" RELATED [OMIM:614371]
synonym: "Dengue hemorrhagic fever, susceptibility to" RELATED [OMIM:614371]
synonym: "Dengue shock syndrome, susceptibility to" RELATED [OMIM:614371]
synonym: "dengue virus, susceptibility to" EXACT [OMIM:614371]
synonym: "susceptibility to dengue virus" RELATED [OMIM:614371]
xref: OMIM:614371 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005502 ! dengue disease
relationship: predisposes_towards MONDO:0005502 ! dengue disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858186
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280582
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280583
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280584
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280585
property_value: exactMatch http://identifiers.org/omim/614371

[Term]
id: MONDO:0013714
name: mannose-binding lectin deficiency
synonym: "lectin complement activation pathway, defect in, 1" RELATED [OMIM:614372]
synonym: "mannose-binding lectin deficiency" EXACT [OMIM:614372]
synonym: "mannose-binding lectin deficiency; MBLD" RELATED [OMIM:614372]
synonym: "mannose-binding protein deficiency" EXACT [OMIM:614372]
synonym: "MBL deficiency" RELATED [OMIM:614372]
synonym: "MBL2 deficiency" RELATED [OMIM:614372]
synonym: "MBLD" RELATED [OMIM:614372]
synonym: "MBP deficiency" RELATED [OMIM:614372]
xref: ICD9:279.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563602 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614372 {source="MONDO:equivalentTo"}
xref: SCTID:703538003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
xref: UMLS:C3280586 {source="MONDO:equivalentTo", source="OMIM:614372"}
is_a: MONDO:0044209 {source="OMIM:614372"} ! disorder of lectin complement activation pathway
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835140
property_value: closeMatch Orphanet:449306
property_value: exactMatch http://identifiers.org/mesh/C563602
property_value: exactMatch http://identifiers.org/omim/614372
property_value: exactMatch http://identifiers.org/snomedct/703538003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280586

[Term]
id: MONDO:0013715
name: amyotrophic lateral sclerosis type 16
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS16" EXACT [DOID:0060207, MONDO:Lexical, OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207, OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [DOID:0060207, MONDO:Lexical, OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16, juvenile; ALS16" RELATED [OMIM:614373]
synonym: "amyotrophic lateral sclerosis caused by mutation in SIGMAR1" EXACT [MONDO:design_pattern]
synonym: "SIGMAR1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060207 {source="MONDO:equivalentTo"}
xref: OMIM:614373 {source="MONDO:equivalentTo", source="DOID:0060207"}
xref: UMLS:C3280587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614373"}
is_a: MONDO:0017593 {source="ORDO:300605/btnt"} ! juvenile amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060207
property_value: exactMatch http://identifiers.org/omim/614373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280587

[Term]
id: MONDO:0013716
name: AAA4
synonym: "AAA4" EXACT [MONDO:Lexical, OMIM:614375]
synonym: "aortic aneurysm, familial abdominal, 4" RELATED [MONDO:Lexical, OMIM:614375]
synonym: "aortic aneurysm, familial abdominal, 4; AAA4" RELATED [OMIM:614375]
xref: OMIM:614375 {source="MONDO:equivalentTo"}
xref: UMLS:C3280597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614375"}
is_a: MONDO:0007031 {source="MONDOLEX:0013716", source="OMIM:614375", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm
property_value: exactMatch http://identifiers.org/omim/614375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280597

[Term]
id: MONDO:0013717
name: asphyxiating thoracic dystrophy 5
def: "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "asphyxiating thoracic dystrophy 5" EXACT [OMIM:614376]
synonym: "asphyxiating thoracic dystrophy type 5" EXACT [DOID:0110089, MONDORULE:1]
synonym: "ATD5" EXACT [DOID:0110089]
synonym: "Jeune syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern]
synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [DOID:0110089, MONDO:Lexical, OMIM:614376]
synonym: "short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5" RELATED [OMIM:614376]
synonym: "SRTD5" EXACT [DOID:0110089, MONDO:Lexical, OMIM:614376]
synonym: "WDR19 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110089 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110089"}
xref: OMIM:614376 {source="MONDO:equivalentTo", source="DOID:0110089"}
xref: UMLS:C3280598 {source="OMIM:614376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110089", source="MONDO:Redundant", source="OMIM:614376"} ! Jeune syndrome
property_value: exactMatch DOID:0110089
property_value: exactMatch http://identifiers.org/omim/614376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280598

[Term]
id: MONDO:0013718
name: nephronophthisis 13
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." [DOID:0111121, PMID:22019273]
synonym: "nephronophthisis 13" EXACT [MONDO:Lexical, OMIM:614377]
synonym: "nephronophthisis 13; NPHP13" RELATED [OMIM:614377]
synonym: "nephronophthisis type 13" EXACT [DOID:0111121, MONDORULE:2, OMIM:614377]
synonym: "NPHP13" EXACT [DOID:0111121, MONDO:Lexical, OMIM:614377]
xref: DOID:0111121 {source="MONDO:equivalentTo"}
xref: OMIM:614377 {source="MONDO:equivalentTo", source="DOID:0111121"}
xref: UMLS:C3280612 {source="OMIM:614377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:614377", source="DOID:0111121", source="OMIM:614377"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111121
property_value: exactMatch http://identifiers.org/omim/614377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280612

[Term]
id: MONDO:0013719
name: cranioectodermal dysplasia 4
synonym: "CED4" RELATED [MONDO:Lexical, OMIM:614378]
synonym: "cranioectodermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614378]
synonym: "cranioectodermal dysplasia 4; CED4" RELATED [OMIM:614378]
synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378]
xref: OMIM:614378 {source="MONDO:equivalentTo"}
xref: UMLS:C3280616 {source="OMIM:614378", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009032 {source="MONDOLEX:0013719", source="OMIM:614378", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280616

[Term]
id: MONDO:0013720
name: complement component 4b deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C4B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C4B deficiency" RELATED [OMIM:614379]
synonym: "C4BD" RELATED [MONDO:Lexical, OMIM:614379]
synonym: "classic complement early component deficiency caused by mutation in C4B" EXACT [MONDO:design_pattern]
synonym: "complement component 4b deficiency" EXACT [MONDO:Lexical, OMIM:614379]
synonym: "complement component 4B deficiency; C4BD" RELATED [OMIM:614379]
xref: DOID:0060298 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060298"}
xref: OMIM:614379 {source="DOID:0060298", source="MONDO:equivalentTo"}
xref: UMLS:C3280641 {source="OMIM:614379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000015 {source="DC-OMIM:614379", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: exactMatch DOID:0060298
property_value: exactMatch http://identifiers.org/omim/614379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280641

[Term]
id: MONDO:0013721
name: complement component 4a deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C4A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C4A deficiency" RELATED [OMIM:614380]
synonym: "C4AD" RELATED [MONDO:Lexical, OMIM:614380]
synonym: "classic complement early component deficiency caused by mutation in C4A" EXACT [MONDO:design_pattern]
synonym: "complement component 4a deficiency" EXACT [MONDO:Lexical, OMIM:614380]
synonym: "complement component 4A deficiency; C4AD" RELATED [OMIM:614380]
xref: DOID:0060297 {source="MONDO:equivalentTo"}
xref: ICD10:D84.1 {source="DOID:0060297"}
xref: MESH:C565167 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614380 {source="DOID:0060297", source="MONDO:equivalentTo"}
xref: UMLS:C3280642 {source="MONDO:equivalentTo", source="OMIM:614380"}
is_a: MONDO:0000015 {source="DC-OMIM:614380", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852692
property_value: exactMatch DOID:0060297
property_value: exactMatch http://identifiers.org/mesh/C565167
property_value: exactMatch http://identifiers.org/omim/614380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280642

[Term]
id: MONDO:0013722
name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLD8" EXACT [DOID:0060797, MONDO:Lexical, OMIM:614381]
synonym: "leukodystrophy caused by mutation in POLR3B" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:614381]
synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD8" RELATED [OMIM:614381]
synonym: "POLR3B leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060797 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="DOID:0060797"}
xref: OMIM:614381 {source="MONDO:equivalentTo", source="DOID:0060797"}
xref: UMLS:C3280644 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614381"}
is_a: MONDO:0019046 {source="DOID:0060797", source="DOID:0060797/inferred", source="MONDO:Redundant", source="OMIM:614381"} ! leukodystrophy
is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
property_value: exactMatch DOID:0060797
property_value: exactMatch http://identifiers.org/omim/614381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280644

[Term]
id: MONDO:0013723
name: bacteremia, susceptibility to, 1
def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "bacteremia, resistance to" RELATED [OMIM:614382]
synonym: "bacteremia, susceptibility caused by mutation in TIRAP" EXACT [MONDO:design_pattern]
synonym: "bacteremia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614382]
synonym: "bacteremia, susceptibility to, 1; BACTS1" RELATED [OMIM:614382]
synonym: "bacteremia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614382]
synonym: "BACTS1" RELATED [MONDO:Lexical, OMIM:614382]
synonym: "TIRAP bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614382 {source="MONDO:equivalentTo"}
is_a: MONDO:0000108 {source="DC-OMIM:614382", source="MONDO:Redundant"} ! bacteremia, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280645
property_value: exactMatch http://identifiers.org/omim/614382

[Term]
id: MONDO:0013724
name: bacteremia, susceptibility to, 2
def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "bacteremia, susceptibility caused by mutation in CISH" EXACT [MONDO:design_pattern]
synonym: "bacteremia, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614383]
synonym: "bacteremia, susceptibility to, 2; BACTS2" RELATED [OMIM:614383]
synonym: "bacteremia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614383]
synonym: "BACTS2" RELATED [MONDO:Lexical, OMIM:614383]
synonym: "CISH bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614383 {source="MONDO:equivalentTo"}
is_a: MONDO:0000108 {source="DC-OMIM:614383", source="MONDO:Redundant"} ! bacteremia, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280647
property_value: exactMatch http://identifiers.org/omim/614383

[Term]
id: MONDO:0013725
name: colorectal cancer, hereditary nonpolyposis, type 7
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "colorectal cancer, hereditary nonpolyposis, type 7" EXACT [MONDO:Lexical, OMIM:614385]
synonym: "colorectal cancer, hereditary nonpolyposis, type 7; HNPCC7" RELATED [OMIM:614385]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in MLH3" EXACT [MONDO:design_pattern]
synonym: "HNPCC7" RELATED [MONDO:Lexical, OMIM:614385]
synonym: "MLH3 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070276 {source="MONDO:equivalentTo"}
xref: MESH:C565777 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614385 {source="MONDO:equivalentTo"}
xref: UMLS:C1858380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614385"}
is_a: MONDO:0005835 {source="DC-OMIM:614385"} ! Lynch syndrome
property_value: exactMatch DOID:0070276
property_value: exactMatch http://identifiers.org/mesh/C565777
property_value: exactMatch http://identifiers.org/omim/614385
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858380

[Term]
id: MONDO:0013726
name: lethal encephalopathy due to mitochondrial and peroxisomal fission defect
subset: ordo_disease {source="Orphanet:330050"}
synonym: "EMPF" RELATED [MONDO:Lexical, OMIM:614388]
synonym: "EMPF1" RELATED [OMIM:614388]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1" RELATED [OMIM:614388]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF1" RELATED [OMIM:614388]
synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" RELATED [MONDO:Lexical, OMIM:614388]
synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; EMPF" RELATED [OMIM:614388]
xref: ICD10:G31.8 {source="Orphanet:330050", source="ORDO:330050/attributed", source="ORDO:330050/ntbt"}
xref: OMIM:614388 {source="MONDO:equivalentTo", source="Orphanet:330050", source="ORDO:330050/e"}
xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"}
xref: UMLS:C3280660 {source="OMIM:614388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0054865 {source="OMIM:614388"} ! encephalopathy due to mitochondrial and peroxisomal fission defect
property_value: exactMatch http://identifiers.org/omim/614388
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280660
property_value: exactMatch Orphanet:330050

[Term]
id: MONDO:0013727
name: pregnancy loss, recurrent, susceptibility to, 1
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "abortion, spontaneous, recurrent" RELATED [OMIM:614389]
synonym: "embryonic loss, recurrent" RELATED [OMIM:614389]
synonym: "F5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fetal loss, recurrent, susceptibility to" RELATED [OMIM:614389]
synonym: "miscarriage, recurrent" RELATED [OMIM:614389]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F5" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614389]
synonym: "pregnancy loss, recurrent, susceptibility to, 1; RPRGL1" RELATED [OMIM:614389]
synonym: "pregnancy loss, recurrent, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614389]
synonym: "Rpl" RELATED [OMIM:614389]
synonym: "Rprgl" RELATED [OMIM:614389]
synonym: "RPRGL1" RELATED [MONDO:Lexical, OMIM:614389]
synonym: "stillbirth, recurrent" RELATED [OMIM:614389]
xref: EFO:0008899 {source="MONDO:equivalentTo"}
xref: OMIM:614389 {source="MONDO:equivalentTo"}
is_a: MONDO:0000144 {source="DC-OMIM:614389", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0000809
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280670
property_value: exactMatch http://identifiers.org/omim/614389

[Term]
id: MONDO:0013728
name: pregnancy loss, recurrent, susceptibility to, 2
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "F2 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F2" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614390]
synonym: "pregnancy loss, recurrent, susceptibility to, 2; RPRGL2" RELATED [OMIM:614390]
synonym: "pregnancy loss, recurrent, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614390]
synonym: "RPRGL2" RELATED [MONDO:Lexical, OMIM:614390]
xref: OMIM:614390 {source="MONDO:equivalentTo"}
is_a: MONDO:0000144 {source="DC-OMIM:614390", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280672
property_value: exactMatch http://identifiers.org/omim/614390

[Term]
id: MONDO:0013729
name: pregnancy loss, recurrent, susceptibility to, 3
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ANXA5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614391]
synonym: "pregnancy loss, recurrent, susceptibility to, 3; RPRGL3" RELATED [OMIM:614391]
synonym: "pregnancy loss, recurrent, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614391]
synonym: "RPRGL3" RELATED [MONDO:Lexical, OMIM:614391]
xref: OMIM:614391 {source="MONDO:equivalentTo"}
is_a: MONDO:0000144 {source="DC-OMIM:614391", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280674
property_value: exactMatch http://identifiers.org/omim/614391

[Term]
id: MONDO:0013730
name: graft versus host disease
def: "Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." [Orphanet:39812]
subset: ordo_disease {source="Orphanet:39812"}
synonym: "disease, graft-versus-host" RELATED [MESH:D006086]
synonym: "disease, graft-VS-host" RELATED [MESH:D006086]
synonym: "disease, homologous wasting" RELATED [MESH:D006086]
synonym: "disease, runt" RELATED [MESH:D006086]
synonym: "diseases, graft-versus-host" RELATED [MESH:D006086]
synonym: "diseases, graft-VS-host" RELATED [MESH:D006086]
synonym: "graft versus host disease" EXACT [MESH:D006086]
synonym: "graft VS host disease" EXACT [NCIT:C3063]
synonym: "graft VS. host disease" EXACT [NCIT:C3063]
synonym: "graft-versus-host disease" EXACT [MESH:D006086, NCIT:C3063]
synonym: "graft-versus-host disease, resistance to" RELATED [OMIM:614395]
synonym: "graft-versus-host disease, susceptibility to" RELATED [MONDO:Lexical, OMIM:614395]
synonym: "graft-versus-host disease, susceptibility to; GVHDS" RELATED [OMIM:614395]
synonym: "graft-versus-host diseases" RELATED [MESH:D006086]
synonym: "graft-versus-host-disease" EXACT [NCIT:C3063]
synonym: "graft-VS-host disease" RELATED [MESH:D006086]
synonym: "graft-VS-host diseases" RELATED [MESH:D006086]
synonym: "GVH" EXACT [Orphanet:39812]
synonym: "GVHD" EXACT [NCIT:C3063]
synonym: "GVHDS" RELATED [MONDO:Lexical, OMIM:614395]
synonym: "homologous wasting disease" RELATED [MESH:D006086]
synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063]
xref: COHD:443216 {source="MONDO:equivalentTo"}
xref: ICD10:T86.0 {source="ORDO:39812/ntbt", source="Orphanet:39812"}
xref: ICD9:279.50 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10018651 {source="ORDO:39812/e", source="Orphanet:39812"}
xref: MESH:D006086 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3063 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:614395 {source="MONDO:equivalentTo", source="ORDO:39812/e", source="Orphanet:39812"}
xref: Orphanet:39812 {source="MONDO:equivalentTo", source="OMIM:614395"}
xref: SCTID:234646005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018133 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3063", source="MONDO:equivalentTo", source="Orphanet:39812"}
is_a: MONDO:0005046 {source="MESH:D006086", source="MONDO:Redundant", source="Orphanet:39812", source="indirect", source="linkedlifedata"} ! immune system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280677
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280678
property_value: exactMatch http://identifiers.org/meddra/10018651
property_value: exactMatch http://identifiers.org/mesh/D006086
property_value: exactMatch http://identifiers.org/omim/614395
property_value: exactMatch http://identifiers.org/snomedct/234646005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018133
property_value: exactMatch NCIT:C3063
property_value: exactMatch Orphanet:39812

[Term]
id: MONDO:0013731
name: MEGF10-Related Myopathy
subset: ordo_disease {source="Orphanet:439212"}
synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT [PMID:22371254, PMID:27460346]
synonym: "early-onset myopathy, areflexia, respiratory distress and dysphagia" RELATED [GARD:0012199]
synonym: "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" RELATED [https://github.com/monarch-initiative/mondo/issues/1112]
synonym: "EMARDD" RELATED [MONDO:Lexical, OMIM:614399, Orphanet:439212]
synonym: "MEGF10 Myopathy" EXACT [https://github.com/monarch-initiative/mondo/issues/1112]
synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical, OMIM:614399]
synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399]
synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD" RELATED [OMIM:614399]
xref: GARD:0012199 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G71.2 {source="ORDO:439212/attributed", source="ORDO:439212/ntbt", source="Orphanet:439212"}
xref: OMIM:614399 {source="MONDO:equivalentTo", source="Orphanet:439212", source="ORDO:439212/e"}
xref: Orphanet:439212 {source="MONDO:equivalentTo"}
xref: UMLS:C3280679 {source="OMIM:614399", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:439212"} ! congenital myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3541476
property_value: exactMatch http://identifiers.org/omim/614399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280679
property_value: exactMatch Orphanet:439212

[Term]
id: MONDO:0013732
name: glucocorticoid therapy, response to
synonym: "GCTR" RELATED [MONDO:Lexical, OMIM:614400]
synonym: "glucocorticoid therapy, response to" EXACT [MONDO:Lexical, OMIM:614400]
synonym: "glucocorticoid therapy, response to; GCTR" RELATED [OMIM:614400]
xref: OMIM:614400 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280689
property_value: exactMatch http://identifiers.org/omim/614400

[Term]
id: MONDO:0013733
name: accelerated tumor formation, susceptibility to
subset: predisposition
synonym: "accelerated tumor formation, susceptibility to" EXACT [MONDO:Lexical, OMIM:614401]
synonym: "accelerated tumor formation, susceptibility to; ACTFS" RELATED [OMIM:614401]
synonym: "ACTFS" RELATED [MONDO:Lexical, OMIM:614401]
xref: OMIM:614401 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280690
property_value: exactMatch http://identifiers.org/omim/614401

[Term]
id: MONDO:0013734
name: microphthalmia, syndromic 11
def: "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCOPS11" RELATED [MONDO:Lexical, OMIM:614402]
synonym: "microphthalmia, syndromic 11" EXACT [MONDO:Lexical, OMIM:614402]
synonym: "microphthalmia, syndromic 11; MCOPS11" RELATED [OMIM:614402]
synonym: "microphthalmia, syndromic type 11" EXACT [MONDORULE:2, OMIM:614402]
synonym: "syndromic microphthalmia caused by mutation in VAX1" EXACT [MONDO:design_pattern]
synonym: "VAX1 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614402 {source="MONDO:equivalentTo"}
xref: UMLS:C3553077 {source="NCBI:mim2gene_medline", source="OMIM:614402", source="MONDO:equivalentTo"}
is_a: MONDO:0016073 {source="DC-OMIM:614402", source="MONDO:Redundant", source="MONDOLEX:0013734", source="OMIM:614402"} ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/omim/614402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553077

[Term]
id: MONDO:0013735
name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
def: "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." [Orphanet:329332]
subset: ordo_malformation_syndrome {source="Orphanet:329332"}
synonym: "MCHCCD" RELATED [MONDO:Lexical, OMIM:614407]
synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407]
synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome; MCHCCD" RELATED [OMIM:614407]
synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332]
synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407]
xref: OMIM:614407 {source="MONDO:equivalentTo", source="ORDO:329332/e", source="Orphanet:329332"}
xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"}
xref: UMLS:C3280692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614407"}
is_a: MONDO:0000508 {source="Orphanet:329332"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:329332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:329332"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/614407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280692
property_value: exactMatch Orphanet:329332

[Term]
id: MONDO:0013736
name: myopathy, centronuclear, 3
def: "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern]
synonym: "CNM3" RELATED [MONDO:Lexical, OMIM:614408]
synonym: "MYF6 autosomal dominant centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical, OMIM:614408]
synonym: "myopathy, centronuclear, 3; CNM3" RELATED [OMIM:614408]
synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408]
xref: OMIM:614408 {source="MONDO:equivalentTo"}
xref: UMLS:C3280703 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614408"}
is_a: MONDO:0008048 {source="MONDO:Redundant", source="ORDO:169189/btnt"} ! autosomal dominant centronuclear myopathy
property_value: exactMatch http://identifiers.org/omim/614408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280703

[Term]
id: MONDO:0013737
name: hereditary spastic paraplegia 46
def: "gene (9p13.2) encoding non-lysosomal glucosylceramidase." [Orphanet:320391]
subset: ordo_disease {source="Orphanet:320391"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798]
synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798]
synonym: "GBA2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE:2]
synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409]
synonym: "spastic paraplegia 46, autosomal recessive; SPG46" RELATED [OMIM:614409]
synonym: "SPG46" EXACT [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391]
xref: DOID:0110798 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="DOID:0110798", source="MONDO:subClassOf", source="ORDO:320391/attributed", source="ORDO:320391/ntbt", source="Orphanet:320391"}
xref: OMIM:614409 {source="DOID:0110798", source="MONDO:equivalentTo", source="ORDO:320391/e", source="Orphanet:320391"}
xref: Orphanet:320391 {source="DOID:0110798", source="MONDO:equivalentTo", source="OMIM:614409"}
xref: SCTID:723822009 {source="MONDO:equivalentTo"}
xref: UMLS:C2828721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614409"}
xref: UMLS:C4510081 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320391"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110798
property_value: exactMatch http://identifiers.org/omim/614409
property_value: exactMatch http://identifiers.org/snomedct/723822009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2828721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510081
property_value: exactMatch Orphanet:320391

[Term]
id: MONDO:0013738
name: autosomal recessive nonsyndromic deafness 96
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13." [DOID:0110538, PMID:21937999]
synonym: "autosomal recessive deafness 96" EXACT [DOID:0110538]
synonym: "autosomal recessive nonsyndromic deafness type 96" EXACT [DOID:0110538, MONDORULE:2]
synonym: "deafness, autosomal recessive 96" RELATED [MONDO:Lexical, OMIM:614414]
synonym: "deafness, autosomal recessive 96; DFNB96" RELATED [OMIM:614414]
synonym: "DFNB96" EXACT [DOID:0110538, MONDO:Lexical, OMIM:614414]
xref: DOID:0110538 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110538"}
xref: OMIM:614414 {source="DOID:0110538", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:614414", source="DOID:0110538", source="OMIM:614414"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3147085
property_value: exactMatch DOID:0110538
property_value: exactMatch http://identifiers.org/omim/614414

[Term]
id: MONDO:0013739
name: chilblain lupus 2
def: "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHBL2" RELATED [MONDO:Lexical, OMIM:614415]
synonym: "chilblain lupus 2" EXACT [MONDO:Lexical, OMIM:614415]
synonym: "chilblain lupus 2; CHBL2" RELATED [OMIM:614415]
synonym: "chilblain lupus caused by mutation in SAMHD1" EXACT [MONDO:design_pattern]
synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1, OMIM:614415]
synonym: "SAMHD1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614415 {source="MONDO:equivalentTo"}
xref: UMLS:C3280721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614415"}
is_a: MONDO:0018827 {source="OMIM:614415"} ! familial chilblain lupus
property_value: exactMatch http://identifiers.org/omim/614415
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280721

[Term]
id: MONDO:0013740
name: lethal occipital encephalocele-skeletal dysplasia syndrome
def: "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." [Orphanet:293925]
subset: ordo_malformation_syndrome {source="Orphanet:293925"}
synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416]
synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies; RHFCA" RELATED [OMIM:614416]
synonym: "RHFCA" RELATED [MONDO:Lexical, OMIM:614416]
xref: ICD10:Q87.5 {source="Orphanet:293925", source="ORDO:293925/attributed", source="ORDO:293925/ntbt"}
xref: OMIM:614416 {source="ORDO:293925/e", source="Orphanet:293925", source="MONDO:equivalentTo"}
xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"}
xref: UMLS:C3280729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614416"}
is_a: MONDO:0015338 {source="Orphanet:293925"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/omim/614416
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280729
property_value: exactMatch Orphanet:293925

[Term]
id: MONDO:0013741
name: familial temporal lobe epilepsy 5
def: "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13." [DOID:0060752, PMID:21922598]
synonym: "epilepsy, familial temporal lobe, 5" RELATED [MONDO:Lexical, OMIM:614417]
synonym: "epilepsy, familial temporal lobe, 5; ETL5" RELATED [OMIM:614417]
synonym: "epilepsy, familial temporal lobe, type 5" EXACT [MONDORULE:1, OMIM:614417]
synonym: "ETL5" EXACT [DOID:0060752, MONDO:Lexical, OMIM:614417]
synonym: "familial temporal lobe epilepsy type 5" EXACT [DOID:0060752, MONDORULE:1]
xref: DOID:0060752 {source="MONDO:equivalentTo"}
xref: OMIM:614417 {source="DOID:0060752", source="MONDO:equivalentTo"}
xref: UMLS:C3280730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614417"}
is_a: MONDO:0013742 ! familial mesial temporal lobe epilepsy with febrile seizures
is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy
property_value: exactMatch DOID:0060752
property_value: exactMatch http://identifiers.org/omim/614417
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280730

[Term]
id: MONDO:0013742
name: familial mesial temporal lobe epilepsy with febrile seizures
subset: ordo_disease {source="Orphanet:165805"}
synonym: "FEB11" RELATED [MONDO:Lexical, OMIM:614418]
synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418]
synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418]
xref: Orphanet:165805 {source="MONDO:equivalentTo"}
is_a: MONDO:0000032 {source="DC-OMIM:614418", source="OMIM:614418"} ! febrile seizures, familial
is_a: MONDO:0017704 {source="Orphanet:165805"} ! familial partial epilepsy
property_value: exactMatch Orphanet:165805

[Term]
id: MONDO:0013743
name: autosomal systemic lupus erythematosus type 16
def: "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." [MONDO:patterns/hereditary]
comment: Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164
subset: ordo_disease {source="Orphanet:300345"}
synonym: "autosomal SLE" BROAD [Orphanet:300345]
synonym: "familial SLE" BROAD [Orphanet:300345]
synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345]
synonym: "SLEB16" EXACT [MONDO:Lexical, OMIM:614420]
synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420]
synonym: "systemic lupus erythematosus 16; SLEB16" EXACT [OMIM:614420]
synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420]
xref: ICD10:M32.8 {source="Orphanet:300345", source="ORDO:300345/attributed", source="ORDO:300345/ntbt"}
xref: OMIM:614420 {source="Orphanet:300345", source="ORDO:300345/e", source="MONDO:equivalentTo"}
xref: Orphanet:300345 {source="OMIM:614420", source="MONDO:equivalentTo"}
xref: UMLS:C3280742 {source="OMIM:614420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007915 {source="DC-OMIM:614420", source="MONDO:Redundant", source="MONDOLEX:0013743"} ! systemic lupus erythematosus (disease)
is_a: MONDO:0018782 {source="Orphanet:300345"} ! type 1 interferonopathy
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://identifiers.org/omim/614420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280742
property_value: exactMatch Orphanet:300345

[Term]
id: MONDO:0013744
name: cataract 37
def: "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3." [DOID:0110252, PMID:21731060]
synonym: "cataract 37" EXACT [MONDO:Lexical, OMIM:614422]
synonym: "cataract 37; CTRCT37" RELATED [OMIM:614422]
synonym: "cataract type 37" EXACT [DOID:0110252, MONDORULE:2]
synonym: "cataract, congenital, cerulean type, 5" RELATED [OMIM:614422]
synonym: "CCA5" NARROW [DOID:0110252]
synonym: "congenital cataract cerulean type 5" NARROW [DOID:0110252]
synonym: "CTRCT37" EXACT [DOID:0110252, MONDO:Lexical, OMIM:614422]
xref: DOID:0110252 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110252"}
xref: OMIM:614422 {source="MONDO:equivalentTo", source="DOID:0110252"}
xref: UMLS:C3280758 {source="OMIM:614422", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract
property_value: exactMatch DOID:0110252
property_value: exactMatch http://identifiers.org/omim/614422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280758

[Term]
id: MONDO:0013745
name: Joubert syndrome 14
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS14" EXACT [DOID:0110983, MONDO:Lexical, OMIM:614424]
synonym: "Joubert syndrome 14" EXACT [MONDO:Lexical, OMIM:614424]
synonym: "Joubert syndrome 14; JBTS14" RELATED [OMIM:614424]
synonym: "Joubert syndrome caused by mutation in TMEM237" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 14" EXACT [DOID:0110983, MONDORULE:2, OMIM:614424]
synonym: "TMEM237 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110983 {source="MONDO:equivalentTo"}
xref: OMIM:614424 {source="MONDO:equivalentTo", source="DOID:0110983"}
xref: UMLS:C3280766 {source="NCBI:mim2gene_medline", source="OMIM:614424", source="MONDO:equivalentTo"}
is_a: MONDO:0009480 {source="ORDO:2318/btnt"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0016364 {source="ORDO:220493/btnt"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Redundant", source="OMIM:614424", source="ORDO:475/btnt"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110983
property_value: exactMatch http://identifiers.org/omim/614424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280766

[Term]
id: MONDO:0013746
name: ventricular septal defect 1
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GATA4 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in GATA4" EXACT []
synonym: "ventricular septal defect 1" EXACT [MONDO:Lexical, OMIM:614429]
synonym: "ventricular septal defect 1; VSD1" RELATED [OMIM:614429]
synonym: "ventricular septal defect type 1" EXACT [MONDORULE:1, OMIM:614429]
synonym: "VSD1" RELATED [MONDO:Lexical, OMIM:614429]
xref: OMIM:614429 {source="MONDO:equivalentTo"}
xref: UMLS:C3280777 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614429"}
is_a: MONDO:0002070 {source="DC-OMIM:614429", source="MONDO:Redundant", source="MONDOLEX:0013746", source="OMIM:614429"} ! ventricular septal defect (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch Orphanet:1480
property_value: exactMatch http://identifiers.org/omim/614429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280777

[Term]
id: MONDO:0013747
name: atrioventricular septal defect 4
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrioventricular septal defect 4" EXACT [MONDO:Lexical, OMIM:614430]
synonym: "atrioventricular septal defect 4; AVSD4" RELATED [OMIM:614430]
synonym: "atrioventricular septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 4" EXACT [MONDORULE:1, OMIM:614430]
synonym: "AVSD4" RELATED [MONDO:Lexical, OMIM:614430]
synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614430 {source="MONDO:equivalentTo"}
xref: UMLS:C3280781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614430"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020290 {source="DC-OMIM:614430", source="MONDO:Redundant", source="MONDOLEX:0013747", source="OMIM:614430"} ! atrioventricular septal defect
property_value: exactMatch http://identifiers.org/omim/614430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280781

[Term]
id: MONDO:0013748
name: ventricular septal defect 2
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CITED2 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in CITED2" EXACT []
synonym: "ventricular septal defect 2" EXACT [MONDO:Lexical, OMIM:614431]
synonym: "ventricular septal defect 2; VSD2" RELATED [OMIM:614431]
synonym: "ventricular septal defect type 2" EXACT [MONDORULE:1, OMIM:614431]
synonym: "VSD2" RELATED [MONDO:Lexical, OMIM:614431]
xref: OMIM:614431 {source="MONDO:equivalentTo"}
is_a: MONDO:0002070 {source="DC-OMIM:614431", source="MONDO:Redundant", source="MONDOLEX:0013748", source="OMIM:614431"} ! ventricular septal defect (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280783
property_value: closeMatch Orphanet:1480
property_value: exactMatch http://identifiers.org/omim/614431

[Term]
id: MONDO:0013749
name: ventricular septal defect 3
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NKX2-5 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in NKX2-5" EXACT []
synonym: "ventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:614432]
synonym: "ventricular septal defect 3; VSD3" RELATED [OMIM:614432]
synonym: "ventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:614432]
synonym: "VSD3" RELATED [MONDO:Lexical, OMIM:614432]
xref: OMIM:614432 {source="MONDO:equivalentTo"}
xref: UMLS:C3280785 {source="OMIM:614432", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002070 {source="DC-OMIM:614432", source="MONDO:Redundant", source="MONDOLEX:0013749", source="OMIM:614432"} ! ventricular septal defect (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch Orphanet:1480
property_value: exactMatch http://identifiers.org/omim/614432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280785

[Term]
id: MONDO:0013750
name: atrial heart septal defect 8
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD8" EXACT [DOID:0110113, MONDO:Lexical, OMIM:614433]
synonym: "atrial heart septal defect caused by mutation in CITED2" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 8" EXACT [DOID:0110113, MONDORULE:1]
synonym: "atrial septal defect 8" EXACT [DOID:0110113, MONDO:Lexical, OMIM:614433]
synonym: "atrial septal defect 8; ASD8" RELATED [OMIM:614433]
synonym: "atrial septal defect type 8" EXACT [MONDORULE:1, OMIM:614433]
synonym: "CITED2 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110113 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110113"}
xref: OMIM:614433 {source="MONDO:equivalentTo", source="DOID:0110113"}
is_a: MONDO:0006664 {source="DC-OMIM:614433", source="DOID:0110113", source="MONDO:Redundant", source="MONDOLEX:0013750", source="OMIM:614433"} ! atrial heart septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280790
property_value: exactMatch DOID:0110113
property_value: exactMatch http://identifiers.org/omim/614433

[Term]
id: MONDO:0013751
name: cutis laxa, autosomal dominant 2
def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCL2" RELATED [MONDO:Lexical, OMIM:614434]
synonym: "autosomal dominant cutis laxa 2" EXACT [DOID:0070136]
synonym: "autosomal dominant cutis laxa caused by mutation in FBLN5" EXACT [MONDO:design_pattern]
synonym: "cutis laxa, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614434]
synonym: "cutis laxa, autosomal dominant 2; ADCL2" RELATED [OMIM:614434]
synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614434]
synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614434 {source="MONDO:equivalentTo"}
xref: UMLS:C3280794 {source="OMIM:614434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019571 {source="MONDO:Redundant", source="MONDOLEX:0013751", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa
property_value: exactMatch http://identifiers.org/omim/614434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280794

[Term]
id: MONDO:0013752
name: hypoplastic left heart syndrome 2
def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLHS2" RELATED [MONDO:Lexical, OMIM:614435]
synonym: "hypoplastic left heart syndrome 2" EXACT [MONDO:Lexical, OMIM:614435]
synonym: "hypoplastic left heart syndrome 2; HLHS2" RELATED [OMIM:614435]
synonym: "hypoplastic left heart syndrome caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1, OMIM:614435]
synonym: "NKX2-5 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:Q23.4 {source="MONDO:subClassOf", source="Orphanet:2248"}
xref: MedDRA:10021076 {source="Orphanet:2248"}
xref: OMIM:614435 {source="MONDO:equivalentTo"}
xref: UMLS:C3280795 {source="NCBI:mim2gene_medline", source="OMIM:614435", source="MONDO:equivalentTo"}
is_a: MONDO:0004933 {source="MONDO:Redundant", source="MONDOLEX:0013752", source="OMIM:614435"} ! hypoplastic left heart syndrome
property_value: exactMatch http://identifiers.org/omim/614435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280795

[Term]
id: MONDO:0013753
name: Charcot-Marie-Tooth disease axonal type 2P
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:300319"}
synonym: "Charcot-Marie-Tooth disease caused by mutation in LRSAM1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [OMIM:614436]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2P" RELATED [MONDO:Lexical, OMIM:614436]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2P; CMT2P" RELATED [OMIM:614436]
synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [DOID:0110169]
synonym: "Charcot-Marie-Tooth neuropathy, type 2P" RELATED [OMIM:614436]
synonym: "Charcot-Marie-Toothe disease, axonal, type 2P" RELATED [GARD:0012435]
synonym: "CMT2P" EXACT [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319]
synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110169 {source="MONDO:equivalentTo"}
xref: GARD:0012435 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="ORDO:300319/attributed", source="ORDO:300319/ntbt", source="Orphanet:300319", source="DOID:0110169"}
xref: OMIM:614436 {source="MONDO:equivalentTo", source="ORDO:300319/e", source="Orphanet:300319", source="DOID:0110169"}
xref: Orphanet:300319 {source="OMIM:614436", source="MONDO:equivalentTo", source="DOID:0110169"}
xref: UMLS:C3280797 {source="OMIM:614436", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110169", source="Orphanet:300319"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="Orphanet:300319"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110169
property_value: exactMatch http://identifiers.org/omim/614436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280797
property_value: exactMatch Orphanet:300319

[Term]
id: MONDO:0013754
name: cutis laxa, autosomal recessive, type 1B
def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." [DOID:0070133]
synonym: "ARCL1B" EXACT [DOID:0070133, MONDO:Lexical, OMIM:614437]
synonym: "autosomal recessive cutis laxa type IB" RELATED [DOID:0070133]
synonym: "cutis laxa, autosomal recessive, type IB" RELATED [MONDO:Lexical, OMIM:614437]
synonym: "cutis laxa, autosomal recessive, type IB; ARCL1B" RELATED [OMIM:614437]
xref: DOID:0070133 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070133"}
xref: OMIM:614437 {source="DOID:0070133", source="MONDO:equivalentTo"}
xref: UMLS:C3280798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614437"}
is_a: MONDO:0019572 {source="DOID:0070133", source="MONDOLEX:0013754", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1
property_value: exactMatch DOID:0070133
property_value: exactMatch http://identifiers.org/omim/614437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280798

[Term]
id: MONDO:0013755
name: PYCR1-related de Barsy syndrome
def: "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:293633"}
synonym: "ARCL3B" EXACT [DOID:0070138, MONDO:Lexical, OMIM:614438]
synonym: "autosomal recessive cutis laxa type IIIB" RELATED [DOID:0070138]
synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [OMIM:614438]
synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical, OMIM:614438]
synonym: "cutis laxa, autosomal recessive, type IIIB; ARCL3B" RELATED [OMIM:614438]
synonym: "De Barsy syndrome B" EXACT [DOID:0070138, OMIM:614438]
synonym: "de Barsy syndrome caused by mutation in PYCR1" EXACT [MONDO:design_pattern]
synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PYCR1 deficiency" EXACT [Orphanet:293633]
synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633]
xref: DOID:0070138 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070138"}
xref: ICD10:Q87.8 {source="ORDO:293633/attributed", source="ORDO:293633/ntbt", source="Orphanet:293633"}
xref: OMIM:614438 {source="MONDO:equivalentTo", source="DOID:0070138", source="ORDO:293633/e", source="Orphanet:293633"}
xref: Orphanet:293633 {source="MONDO:equivalentTo", source="OMIM:614438"}
xref: UMLS:C3280799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614438"}
is_a: MONDO:0016175 {source="DOID:0070138/inferred", source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! cutis laxa
is_a: MONDO:0017569 {source="DOID:0070138", source="MONDO:Redundant", source="MONDOLEX:0013755", source="Orphanet:293633"} ! de Barsy syndrome
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0070138
property_value: exactMatch http://identifiers.org/omim/614438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280799
property_value: exactMatch Orphanet:293633

[Term]
id: MONDO:0013756
name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2
def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:614441]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 2; PHOAR2" RELATED [OMIM:614441]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:614441]
synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:614441]
synonym: "PDP, autosomal recessive" RELATED [OMIM:614441]
synonym: "PHOAR2" RELATED [MONDO:Lexical, OMIM:614441]
synonym: "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" EXACT [MONDO:design_pattern]
synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614441 {source="MONDO:equivalentTo"}
xref: UMLS:C3280800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614441"}
is_a: MONDO:0009799 {source="MONDOLEX:0013756", source="ORDO:2796/btnt"} ! pachydermoperiostosis
property_value: exactMatch http://identifiers.org/omim/614441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280800

[Term]
id: MONDO:0013757
name: congenital nongoitrous hypothryoidism 6
def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHNG6" EXACT [DOID:0070128, MONDO:Lexical, OMIM:614450]
synonym: "congenital nongoitrous hypothyroidism 6" RELATED [DOID:0070128]
synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in THRA" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, nongoitrous, 6" RELATED [MONDO:Lexical, OMIM:614450]
synonym: "hypothyroidism, congenital, nongoitrous, 6; CHNG6" RELATED [OMIM:614450]
synonym: "hypothyroidism, congenital, nongoitrous, type 6" EXACT [MONDORULE:1, OMIM:614450]
synonym: "THRA hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070128 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="DOID:0070128"}
xref: OMIM:614450 {source="MONDO:equivalentTo", source="DOID:0070128"}
xref: UMLS:C3280817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614450"}
is_a: MONDO:0000045 {source="DC-OMIM:614450", source="MONDO:Redundant", source="OMIM:614450"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0019995 {source="ORDO:97927/btnt"} ! peripheral resistance to thyroid hormones
property_value: exactMatch DOID:0070128
property_value: exactMatch http://identifiers.org/omim/614450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280817

[Term]
id: MONDO:0013758
name: Charcot-Marie-Tooth disease dominant intermediate E
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." [Orphanet:93114]
comment: Not in the OMIM series. {source="OMIM:614455"}
subset: ordo_disease {source="Orphanet:93114"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205]
synonym: "Charcot-Marie-Tooth disease - nephropathy" RELATED [GARD:0012011]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type E" EXACT [DOID:0110205, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate E" RELATED [MONDO:Lexical, OMIM:614455]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate E; CMTDIE" RELATED [OMIM:614455]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type E" EXACT [MONDORULE:1, OMIM:614455]
synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [DOID:0110205, Orphanet:93114]
synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [DOID:0110205, OMIM:614455]
synonym: "CMTDIE" EXACT [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114]
xref: DOID:0110205 {source="MONDO:equivalentTo"}
xref: GARD:0012011 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="DOID:0110205", source="Orphanet:93114", source="ORDO:93114/attributed", source="ORDO:93114/ntbt"}
xref: OMIM:614455 {source="ORDO:93114/e", source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114"}
xref: Orphanet:93114 {source="DOID:0110205", source="OMIM:614455", source="MONDO:equivalentTo"}
xref: SCTID:722294004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3280845 {source="OMIM:614455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4302667 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:93114"} ! primary glomerular disease
is_a: MONDO:0019548 {source="MONDOLEX:0013758", source="Orphanet:93114"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110205
property_value: exactMatch http://identifiers.org/omim/614455
property_value: exactMatch http://identifiers.org/snomedct/722294004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302667
property_value: exactMatch Orphanet:93114

[Term]
id: MONDO:0013759
name: MITF-related melanoma and renal cell carcinoma predisposition syndrome
def: "MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." [Orphanet:293822]
subset: ordo_disease {source="Orphanet:293822"}
subset: predisposition
synonym: "CMM8" RELATED [MONDO:Lexical, OMIM:614456]
synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [OMIM:614456]
synonym: "melanoma, cutaneous malignant, susceptibility to, 8" RELATED [MONDO:Lexical, OMIM:614456]
synonym: "melanoma, cutaneous malignant, susceptibility to, 8; CMM8" RELATED [OMIM:614456]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456]
synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456]
xref: OMIM:614456 {source="MONDO:equivalentTo", source="ORDO:293822/e", source="Orphanet:293822"}
xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:293822"} ! hereditary neoplastic syndrome
is_a: MONDO:0020573 {source="OMIM:614456"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="OMIM", source="OMIM:614456"} ! familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152204
property_value: exactMatch http://identifiers.org/omim/614456
property_value: exactMatch Orphanet:293822

[Term]
id: MONDO:0013760
name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
subset: ordo_disease {source="Orphanet:352333"}
synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" EXACT [Orphanet:352333]
synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED [MONDO:Lexical, OMIM:614457]
synonym: "ichthyosis, spastic quadriplegia, and mental retardation; ISQMR" RELATED [OMIM:614457]
synonym: "ISQMR" RELATED [MONDO:Lexical, OMIM:614457]
xref: ICD10:Q80.8 {source="Orphanet:352333", source="ORDO:352333/attributed", source="ORDO:352333/ntbt"}
xref: OMIM:614457 {source="Orphanet:352333", source="ORDO:352333/e", source="MONDO:equivalentTo"}
xref: Orphanet:352333 {source="OMIM:614457", source="MONDO:equivalentTo"}
xref: UMLS:C3280856 {source="NCBI:mim2gene_medline", source="OMIM:614457", source="MONDO:equivalentTo"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017272 {source="Orphanet:352333"} ! autosomal ichthyosis syndrome with prominent neurologics signs
is_a: MONDO:0018118 {source="Orphanet:352333"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019058 {source="Orphanet:352333"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/614457
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280856
property_value: exactMatch Orphanet:352333

[Term]
id: MONDO:0013761
name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency
subset: ordo_disease {source="Orphanet:293955"}
synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458]
synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458]
synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); THMD5" RELATED [OMIM:614458]
synonym: "THMD5" RELATED [MONDO:Lexical, OMIM:614458]
xref: OMIM:614458 {source="MONDO:equivalentTo", source="Orphanet:293955", source="ORDO:293955/e"}
xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"}
xref: UMLS:C3280866 {source="OMIM:614458", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000152 {source="DC-OMIM:614458", source="OMIM:614458"} ! thiamine-responsive dysfunction syndrome
property_value: exactMatch http://identifiers.org/omim/614458
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280866
property_value: exactMatch Orphanet:293955

[Term]
id: MONDO:0013762
name: lipoic acid synthetase deficiency
def: "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria . Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis , severe encephalopathy , seizures, poor growth, hypotonia , and developmental delay. It is caused by changes ( mutations ) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency]
subset: gard_rare {source="GARD:0012678"}
subset: ordo_disease {source="Orphanet:401859"}
synonym: "HGCLAS" RELATED [OMIM:614462]
synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462]
synonym: "hyperglycinemia, lactic acidosis, and seizures; HGCLAS" RELATED [OMIM:614462]
synonym: "PDHLD" RELATED [MONDO:Lexical, OMIM:614462]
synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462]
synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency; PDHLD" RELATED [OMIM:614462]
xref: GARD:0012678 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:401859/attributed", source="ORDO:401859/ntbt", source="Orphanet:401859"}
xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="ORDO:401859/e"}
xref: Orphanet:401859 {source="MONDO:equivalentTo", source="OMIM:614462"}
xref: UMLS:C3280887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614462"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018424 {source="MONDO:Redundant", source="Orphanet:401859"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019169 {source="DC-OMIM:614462", source="OMIM:614462"} ! pyruvate dehydrogenase deficiency
property_value: exactMatch http://identifiers.org/omim/614462
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280887
property_value: exactMatch Orphanet:401859
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency xsd:anyURI {source="GARD:0012678"}

[Term]
id: MONDO:0013763
name: Joubert syndrome 15
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP41 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS15" EXACT [DOID:0110984, MONDO:Lexical, OMIM:614464]
synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:614464]
synonym: "Joubert syndrome 15" EXACT [MONDO:Lexical, OMIM:614464]
synonym: "Joubert syndrome 15; JBTS15" RELATED [OMIM:614464]
synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:614464]
synonym: "Joubert syndrome caused by mutation in CEP41" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 15" EXACT [DOID:0110984, MONDORULE:2, OMIM:614464]
xref: DOID:0110984 {source="MONDO:equivalentTo"}
xref: OMIM:614464 {source="DOID:0110984", source="MONDO:equivalentTo"}
xref: UMLS:C3280897 {source="OMIM:614464", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:614464", source="DOID:0110984", source="MONDO:Redundant", source="OMIM:614464"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280898
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280899
property_value: exactMatch DOID:0110984
property_value: exactMatch http://identifiers.org/omim/614464
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280897

[Term]
id: MONDO:0013764
name: Joubert syndrome 16
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS16" EXACT [DOID:0110985, MONDO:Lexical, OMIM:614465]
synonym: "Joubert syndrome 16" EXACT [MONDO:Lexical, OMIM:614465]
synonym: "Joubert syndrome 16; JBTS16" RELATED [OMIM:614465]
synonym: "Joubert syndrome caused by mutation in TMEM138" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 16" EXACT [DOID:0110985, MONDORULE:2, OMIM:614465]
synonym: "TMEM138 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110985 {source="MONDO:equivalentTo"}
xref: OMIM:614465 {source="DOID:0110985", source="MONDO:equivalentTo"}
xref: UMLS:C3280906 {source="OMIM:614465", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:614465", source="DOID:0110985", source="MONDO:Redundant", source="OMIM:614465"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110985
property_value: exactMatch http://identifiers.org/omim/614465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280906

[Term]
id: MONDO:0013765
name: coronary heart disease, susceptibility to, 6
def: "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CHDS6" RELATED [MONDO:Lexical, OMIM:614466]
synonym: "coronary artery disease caused by mutation in MMP3" EXACT [MONDO:design_pattern]
synonym: "coronary heart disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:614466]
synonym: "coronary heart disease, susceptibility to, 6; CHDS6" RELATED [OMIM:614466]
synonym: "coronary heart disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:614466]
synonym: "MMP3 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to coronary heart disease 6" RELATED [OMIM:614466]
xref: OMIM:614466 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005010 ! coronary artery disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280913
property_value: exactMatch http://identifiers.org/omim/614466

[Term]
id: MONDO:0013766
name: familial cold autoinflammatory syndrome 3
def: "PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease." [Orphanet:300359]
subset: ordo_disease {source="Orphanet:300359"}
synonym: "antibody deficiency and immune dysregulation, PLCG2-associated" RELATED [OMIM:614468]
synonym: "FACU" EXACT [Orphanet:300359]
synonym: "familial atypical cold urticaria" EXACT [OMIM:614468, Orphanet:300359]
synonym: "familial cold autoinflammatory syndrome 3" EXACT [MONDO:Lexical, OMIM:614468]
synonym: "familial cold autoinflammatory syndrome 3; FCAS3" RELATED [OMIM:614468]
synonym: "familial cold autoinflammatory syndrome caused by mutation in PLCG2" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 3" EXACT [DOID:0090064, MONDORULE:1, OMIM:614468]
synonym: "familial cold urticaria with common variable immunodeficiency" EXACT [Orphanet:300359]
synonym: "FCAS3" RELATED [MONDO:Lexical, OMIM:614468]
synonym: "plaid" EXACT [Orphanet:300359]
synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359]
xref: DOID:0090064 {source="MONDO:equivalentTo"}
xref: ICD10:L50.2 {source="DOID:0090064", source="ORDO:300359/attributed", source="ORDO:300359/ntbt", source="Orphanet:300359"}
xref: OMIM:614468 {source="DOID:0090064", source="ORDO:300359/e", source="MONDO:equivalentTo", source="Orphanet:300359"}
xref: Orphanet:300359 {source="DOID:0090064", source="OMIM:614468", source="MONDO:equivalentTo"}
xref: UMLS:C3280914 {source="NCBI:mim2gene_medline", source="OMIM:614468", source="MONDO:equivalentTo"}
is_a: MONDO:0015939 {source="Orphanet:300359"} ! systemic autoimmune disease
is_a: MONDO:0018768 {source="DC-OMIM:614468", source="DOID:0090064", source="MONDO:Redundant", source="OMIM:614468"} ! familial cold autoinflammatory syndrome
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0025513 ! autoimmune urticaria
property_value: exactMatch DOID:0090064
property_value: exactMatch http://identifiers.org/omim/614468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280914
property_value: exactMatch Orphanet:300359

[Term]
id: MONDO:0013767
name: autoimmune lymphoproliferative syndrome type 4
def: "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." [Orphanet:268114]
subset: ordo_disease {source="Orphanet:268114"}
synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114]
synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114]
synonym: "ALPS4" EXACT [DOID:0110117]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [Orphanet:268114]
synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117, Orphanet:268114]
synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [OMIM:614470]
synonym: "NRAS autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RALD" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470, Orphanet:268114]
synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117]
synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470]
synonym: "RAS-associated autoimmune leukoproliferative disorder; RALD" RELATED [OMIM:614470]
xref: DOID:0110117 {source="MONDO:equivalentTo"}
xref: ICD10:D72.8 {source="DOID:0110117", source="Orphanet:268114", source="ORDO:268114/attributed", source="ORDO:268114/ntbt"}
xref: OMIM:614470 {source="ORDO:268114/e", source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo"}
xref: Orphanet:268114 {source="DOID:0110117", source="MONDO:equivalentTo", source="OMIM:614470"}
xref: SCTID:723508002 {source="MONDO:equivalentTo"}
xref: UMLS:C2674723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614470"}
is_a: MONDO:0017979 {source="DC-OMIM:614470", source="DOID:0110117", source="MONDO:Redundant", source="MONDOLEX:0013767"} ! autoimmune lymphoproliferative syndrome
property_value: exactMatch DOID:0110117
property_value: exactMatch http://identifiers.org/omim/614470
property_value: exactMatch http://identifiers.org/snomedct/723508002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674723
property_value: exactMatch Orphanet:268114

[Term]
id: MONDO:0013768
name: arterial calcification, generalized, of infancy, 2
def: "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCC6 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "arterial calcification of infancy caused by mutation in ABCC6" EXACT [MONDO:design_pattern]
synonym: "arterial calcification, generalized, of infancy, 2" EXACT [MONDO:Lexical, OMIM:614473]
synonym: "arterial calcification, generalized, of infancy, 2; GACI2" RELATED [OMIM:614473]
synonym: "arterial calcification, generalized, of infancy, type 2" EXACT [MONDORULE:1, OMIM:614473]
synonym: "GACI2" RELATED [MONDO:Lexical, OMIM:614473]
xref: OMIM:614473 {source="MONDO:equivalentTo"}
xref: UMLS:C3276161 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614473"}
is_a: MONDO:0018870 {source="DC-OMIM:614473", source="MONDO:Redundant", source="OMIM:614473"} ! arterial calcification of infancy
relationship: excluded_subClassOf MONDO:0018910 ! oculocutaneous albinism
property_value: exactMatch http://identifiers.org/omim/614473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3276161

[Term]
id: MONDO:0013769
name: atrioventricular septal defect 5
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrioventricular septal defect 5" EXACT [MONDO:Lexical, OMIM:614474]
synonym: "atrioventricular septal defect 5; AVSD5" RELATED [OMIM:614474]
synonym: "atrioventricular septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 5" EXACT [MONDORULE:1, OMIM:614474]
synonym: "AVSD5" RELATED [MONDO:Lexical, OMIM:614474]
synonym: "GATA6 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614474 {source="MONDO:equivalentTo"}
xref: UMLS:C3280939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614474"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020290 {source="DC-OMIM:614474", source="MONDO:Redundant", source="MONDOLEX:0013769", source="OMIM:614474"} ! atrioventricular septal defect
property_value: exactMatch http://identifiers.org/omim/614474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280939

[Term]
id: MONDO:0013770
name: atrial heart septal defect 9
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASD9" EXACT [DOID:0110114, MONDO:Lexical, OMIM:614475]
synonym: "atrial heart septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 9" EXACT [DOID:0110114, MONDORULE:1]
synonym: "atrial septal defect 9" EXACT [DOID:0110114, MONDO:Lexical, OMIM:614475]
synonym: "atrial septal defect 9; ASD9" RELATED [OMIM:614475]
synonym: "atrial septal defect type 9" EXACT [MONDORULE:1, OMIM:614475]
synonym: "GATA6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110114 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="DOID:0110114"}
xref: OMIM:614475 {source="MONDO:equivalentTo", source="DOID:0110114"}
xref: UMLS:C3280943 {source="OMIM:614475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="DC-OMIM:614475", source="DOID:0110114", source="MONDO:Redundant", source="MONDOLEX:0013770", source="OMIM:614475"} ! atrial heart septal defect
property_value: exactMatch DOID:0110114
property_value: exactMatch http://identifiers.org/omim/614475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280943

[Term]
id: MONDO:0013771
name: transient infantile hypertriglyceridemia and hepatosteatosis
subset: ordo_disease {source="Orphanet:300293"}
synonym: "HTGTI" RELATED [MONDO:Lexical, OMIM:614480]
synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480]
synonym: "hypertriglyceridemia, transient infantile; HTGTI" RELATED [OMIM:614480]
synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293]
xref: OMIM:614480 {source="MONDO:equivalentTo", source="Orphanet:300293", source="ORDO:300293/e"}
xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"}
xref: UMLS:C3280953 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614480"}
is_a: MONDO:0015508 {source="Orphanet:300293"} ! genetic parenchymatous liver disease
property_value: exactMatch http://identifiers.org/omim/614480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280953
property_value: exactMatch Orphanet:300293

[Term]
id: MONDO:0013772
name: congenital cataract-hearing loss-severe developmental delay syndrome
subset: ordo_disease {source="Orphanet:300313"}
synonym: "CCHLND" RELATED [MONDO:Lexical, OMIM:614482]
synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313]
synonym: "congenital cataracts, hearing loss, and neurodegeneration" RELATED [MONDO:Lexical, OMIM:614482]
synonym: "congenital cataracts, hearing loss, and neurodegeneration; CCHLND" RELATED [OMIM:614482]
synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313]
xref: OMIM:614482 {source="ORDO:300313/e", source="Orphanet:300313", source="MONDO:equivalentTo"}
xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"}
xref: UMLS:C3280965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614482"}
is_a: MONDO:0019058 {source="Orphanet:300313"} ! neurometabolic disease
is_a: MONDO:0020225 {source="Orphanet:300313"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/omim/614482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280965
property_value: exactMatch Orphanet:300313

[Term]
id: MONDO:0013773
name: porencephaly 2
def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL4A2 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POREN2" RELATED [MONDO:Lexical, OMIM:614483]
synonym: "porencephaly 2" EXACT [MONDO:Lexical, OMIM:614483]
synonym: "porencephaly 2; POREN2" RELATED [OMIM:614483]
synonym: "porencephaly caused by mutation in COL4A2" EXACT [MONDO:design_pattern]
synonym: "porencephaly type 2" EXACT [MONDORULE:1, OMIM:614483]
xref: OMIM:614483 {source="MONDO:equivalentTo"}
xref: UMLS:C3280970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614483"}
is_a: MONDO:0020496 {source="ORDO:99810/btnt"} ! familial porencephaly
property_value: exactMatch http://identifiers.org/omim/614483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280970

[Term]
id: MONDO:0013774
name: trigonocephaly 2
def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis, metopic" RELATED [OMIM:614485]
synonym: "FREM1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated trigonocephaly caused by mutation in FREM1" EXACT [MONDO:design_pattern]
synonym: "TRIGNO2" RELATED [MONDO:Lexical, OMIM:614485]
synonym: "trigonocephaly 2" EXACT [MONDO:Lexical, OMIM:614485]
synonym: "trigonocephaly 2; TRIGNO2" RELATED [OMIM:614485]
synonym: "trigonocephaly type 2" EXACT [MONDORULE:1, OMIM:614485]
xref: OMIM:614485 {source="MONDO:equivalentTo"}
is_a: MONDO:0018065 {source="MONDO:Redundant", source="ORDO:3366/btnt"} ! isolated trigonocephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280974
property_value: exactMatch http://identifiers.org/omim/614485

[Term]
id: MONDO:0013775
name: thrombomodulin-related bleeding disorder
subset: ordo_disease {source="Orphanet:436169"}
synonym: "THBD-related bleeding disorder" EXACT [Orphanet:436169]
synonym: "THBD-related coagulopathy" EXACT [Orphanet:436169]
synonym: "THPH12" RELATED [MONDO:Lexical, OMIM:614486]
synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169]
synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486]
synonym: "thrombophilia due to thrombomodulin defect; THPH12" RELATED [OMIM:614486]
xref: ICD10:D68.3 {source="ORDO:436169/attributed", source="ORDO:436169/ntbt", source="Orphanet:436169"}
xref: MESH:C566057 {source="MONDO:equivalentTo"}
xref: OMIM:614486 {source="MONDO:equivalentTo", source="Orphanet:436169", source="ORDO:436169/e"}
xref: Orphanet:436169 {source="MONDO:equivalentTo"}
xref: UMLS:C3280976 {source="OMIM:614486", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:436169"}
is_a: MONDO:0002305 {source="DC-OMIM:614486", source="MESH:C566057", source="OMIM:614486"} ! thrombophilia
is_a: MONDO:0019039 {source="Orphanet:436169"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861173
property_value: exactMatch http://identifiers.org/mesh/C566057
property_value: exactMatch http://identifiers.org/omim/614486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280976
property_value: exactMatch Orphanet:436169

[Term]
id: MONDO:0013776
name: spastic ataxia 5
def: "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." [Orphanet:313772]
subset: ordo_disease {source="Orphanet:313772"}
synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772]
synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [Orphanet:313772]
synonym: "autosomal recessive spastic ataxia caused by mutation in AFG3L2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 5" EXACT [Orphanet:313772]
synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [Orphanet:313772]
synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614487]
synonym: "spastic ataxia 5, autosomal recessive; SPAX5" RELATED [OMIM:614487]
synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1]
synonym: "SPAX5" EXACT [MONDO:Lexical, OMIM:614487, Orphanet:313772]
xref: DOID:0050944 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:relatedTo", source="ORDO:313772/attributed", source="ORDO:313772/ntbt", source="Orphanet:313772"}
xref: OMIM:614487 {source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772", source="ORDO:313772/e"}
xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"}
xref: UMLS:C3280977 {source="OMIM:614487", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017847 {source="MONDO:Redundant", source="MONDOLEX:0013776", source="Orphanet:313772"} ! autosomal recessive spastic ataxia
is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050944
property_value: exactMatch http://identifiers.org/omim/614487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280977
property_value: exactMatch Orphanet:313772

[Term]
id: MONDO:0013777
name: pseudohypoaldosteronism type 2B
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:88939"}
synonym: "PHA2B" EXACT [MONDO:Lexical, OMIM:614491, Orphanet:88939]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491]
synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491]
synonym: "pseudohypoaldosteronism, type IIB; PHA2B" RELATED [OMIM:614491]
synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:I15.1 {source="ORDO:88939/attributed", source="ORDO:88939/ntbt", source="Orphanet:88939"}
xref: MESH:C564161 {source="MONDO:equivalentTo"}
xref: OMIM:614491 {source="MONDO:equivalentTo", source="ORDO:88939/e", source="Orphanet:88939"}
xref: Orphanet:88939 {source="MONDO:equivalentTo", source="OMIM:614491"}
xref: UMLS:C1840390 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88939", source="OMIM:614491"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="MONDOLEX:0013777", source="OMIM:614491", source="Orphanet:88939"} ! pseudohypoaldosteronism type 2
property_value: exactMatch http://identifiers.org/mesh/C564161
property_value: exactMatch http://identifiers.org/omim/614491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840390
property_value: exactMatch Orphanet:88939

[Term]
id: MONDO:0013778
name: pseudohypoaldosteronism type 2C
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:88940"}
synonym: "PHA2C" EXACT [MONDO:Lexical, OMIM:614492, Orphanet:88940]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492]
synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492]
synonym: "pseudohypoaldosteronism, type IIC; PHA2C" RELATED [OMIM:614492]
synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:I15.1 {source="Orphanet:88940", source="ORDO:88940/attributed", source="ORDO:88940/ntbt"}
xref: MESH:C564162 {source="MONDO:equivalentTo"}
xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="ORDO:88940/e"}
xref: Orphanet:88940 {source="MONDO:equivalentTo", source="OMIM:614492"}
xref: UMLS:C1840391 {source="Orphanet:88940", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614492"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="MONDOLEX:0013778", source="OMIM:614492", source="Orphanet:88940"} ! pseudohypoaldosteronism type 2
property_value: exactMatch http://identifiers.org/mesh/C564162
property_value: exactMatch http://identifiers.org/omim/614492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840391
property_value: exactMatch Orphanet:88940

[Term]
id: MONDO:0013779
name: Wiskott-Aldrich syndrome 2
def: "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "WAS2" RELATED [MONDO:Lexical, OMIM:614493]
synonym: "Wipf1 deficiency" RELATED [OMIM:614493]
synonym: "WIPF1 Wiskott-Aldrich syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, OMIM:614493]
synonym: "Wiskott-Aldrich syndrome 2; WAS2" RELATED [OMIM:614493]
synonym: "Wiskott-Aldrich syndrome caused by mutation in WIPF1" EXACT [MONDO:design_pattern]
synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1, OMIM:614493]
xref: OMIM:277970 {source="MONDO:equivalentObsolete"}
xref: OMIM:614493 {source="MONDO:equivalentTo"}
xref: UMLS:C3281001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614493"}
is_a: MONDO:0010518 {source="MONDO:Redundant", source="ORDO:906/btnt"} ! Wiskott-Aldrich syndrome
property_value: exactMatch http://identifiers.org/omim/277970
property_value: exactMatch http://identifiers.org/omim/614493
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281001

[Term]
id: MONDO:0013780
name: retinitis pigmentosa 63
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23." [DOID:0110385, PMID:22083234]
synonym: "retinitis pigmentosa 63" EXACT [MONDO:Lexical, OMIM:614494]
synonym: "retinitis pigmentosa 63; RP63" RELATED [OMIM:614494]
synonym: "retinitis pigmentosa type 63" EXACT [DOID:0110385, MONDORULE:2]
synonym: "RP63" EXACT [DOID:0110385, MONDO:Lexical, OMIM:614494]
xref: DOID:0110385 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110385"}
xref: OMIM:614494 {source="MONDO:equivalentTo", source="DOID:0110385"}
xref: UMLS:C3281002 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614494"}
is_a: MONDO:0019200 {source="DC-OMIM:614494", source="DOID:0110385", source="OMIM:614494"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110385
property_value: exactMatch http://identifiers.org/omim/614494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281002

[Term]
id: MONDO:0013781
name: pseudohypoaldosteronism type 2D
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:300525"}
synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495]
synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHA2D" EXACT [MONDO:Lexical, OMIM:614495, Orphanet:300525]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495]
synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495]
synonym: "pseudohypoaldosteronism, type IID; PHA2D" RELATED [OMIM:614495]
xref: ICD10:I15.1 {source="ORDO:300525/attributed", source="ORDO:300525/ntbt", source="Orphanet:300525"}
xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="ORDO:300525/e"}
xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"}
xref: UMLS:C3469605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614495"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="MONDOLEX:0013781", source="OMIM:614495", source="Orphanet:300525"} ! pseudohypoaldosteronism type 2
property_value: exactMatch http://identifiers.org/omim/614495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3469605
property_value: exactMatch Orphanet:300525

[Term]
id: MONDO:0013782
name: pseudohypoaldosteronism type 2E
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:300530"}
synonym: "CUL3 pseudohypoaldosteronism type 2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Cul3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern]
synonym: "PHA2E" EXACT [MONDO:Lexical, OMIM:614496, Orphanet:300530]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT []
synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496]
synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496]
synonym: "pseudohypoaldosteronism, type IIE; PHA2E" RELATED [OMIM:614496]
xref: ICD10:I15.1 {source="Orphanet:300530", source="ORDO:300530/attributed", source="ORDO:300530/ntbt"}
xref: OMIM:614496 {source="Orphanet:300530", source="ORDO:300530/e", source="MONDO:equivalentTo"}
xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"}
xref: UMLS:C3469606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614496"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="MONDOLEX:0013782", source="OMIM:614496", source="Orphanet:300530"} ! pseudohypoaldosteronism type 2
property_value: exactMatch http://identifiers.org/omim/614496
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3469606
property_value: exactMatch Orphanet:300530

[Term]
id: MONDO:0013783
name: microphthalmia, isolated, with coloboma 7
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCB6 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB7" RELATED [MONDO:Lexical, OMIM:614497]
synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical, OMIM:614497]
synonym: "microphthalmia, isolated, with coloboma 7; MCOPCB7" RELATED [OMIM:614497]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OMIM:614497]
xref: OMIM:614497 {source="MONDO:equivalentTo"}
xref: UMLS:C3281027 {source="OMIM:614497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/omim/614497
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281027

[Term]
id: MONDO:0013784
name: lethal neonatal spasticity-epileptic encephalopathy syndrome
subset: ordo_malformation_syndrome {source="Orphanet:435845"}
synonym: "lethal neonatal rigidity-multifocal seizure syndrome" EXACT [Orphanet:435845]
synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498]
synonym: "rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL" RELATED [OMIM:614498]
synonym: "RMFSL" RELATED [MONDO:Lexical, OMIM:614498]
xref: EFO:0009144 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="Orphanet:435845", source="ORDO:435845/attributed", source="ORDO:435845/ntbt"}
xref: OMIM:614498 {source="Orphanet:435845", source="ORDO:435845/e", source="MONDO:equivalentTo"}
xref: Orphanet:435845 {source="MONDO:equivalentTo"}
xref: UMLS:C3281029 {source="OMIM:614498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="EFO:0009144", source="Orphanet:435845"} ! monogenic epilepsy
property_value: exactMatch http://identifiers.org/omim/614498
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281029
property_value: exactMatch Orphanet:435845

[Term]
id: MONDO:0013785
name: intellectual disability, autosomal recessive 34
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" EXACT [MONDO:design_pattern]
synonym: "CRADD autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 34" RELATED [MONDO:Lexical, OMIM:614499]
synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly" RELATED [OMIM:614499]
synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34" RELATED [OMIM:614499]
synonym: "mental retardation, autosomal recessive 34; MRT34" RELATED [OMIM:614499]
synonym: "mental retardation, autosomal recessive type 34" EXACT [MONDORULE:2, OMIM:614499]
synonym: "MRT34" RELATED [MONDO:Lexical, OMIM:614499]
xref: NCIT:C153179 {source="MONDO:equivalentTo"}
xref: OMIM:614499 {source="MONDO:equivalentTo"}
xref: UMLS:C3281044 {source="OMIM:614499", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:614499", source="MONDO:Redundant", source="OMIM:614499"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/614499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281044
property_value: exactMatch NCIT:C153179

[Term]
id: MONDO:0013786
name: cone-rod dystrophy 16
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "C8orf37 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 16" EXACT [MONDO:Lexical, OMIM:614500]
synonym: "cone-rod dystrophy 16; CORD16" RELATED [OMIM:614500]
synonym: "cone-rod dystrophy caused by mutation in C8orf37" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 16" EXACT [DOID:0111022, MONDORULE:2, OMIM:614500]
synonym: "CORD16" EXACT [DOID:0111022, MONDO:Lexical, OMIM:614500]
synonym: "retinal dystrophy with early macular involvement" EXACT [DOID:0111022]
synonym: "retinitis pigmentosa 64" RELATED [OMIM:614500]
xref: DOID:0111022 {source="MONDO:equivalentTo"}
xref: OMIM:614500 {source="MONDO:equivalentTo", source="DOID:0111022"}
xref: UMLS:C3281045 {source="OMIM:614500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:614500", source="DOID:0111022", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="DC-OMIM:614500", source="OMIM:614500"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3281046
property_value: exactMatch DOID:0111022
property_value: exactMatch http://identifiers.org/omim/614500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281045

[Term]
id: MONDO:0013787
name: psychomotor retardation, epilepsy, and craniofacial dysmorphism
synonym: "PMRED" RELATED [MONDO:Lexical, OMIM:614501]
synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism" EXACT [MONDO:Lexical, OMIM:614501]
synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED" RELATED [OMIM:614501]
xref: OMIM:614501 {source="MONDO:equivalentTo"}
xref: UMLS:C3281055 {source="NCBI:mim2gene_medline", source="OMIM:614501", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281055

[Term]
id: MONDO:0013788
name: Usher syndrome type 3B
def: "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HARS Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH3B" EXACT [DOID:0110842, MONDO:Lexical, OMIM:614504]
synonym: "Usher syndrome caused by mutation in HARS" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type IIIB" EXACT [DOID:0110842]
synonym: "Usher syndrome, type 3B" RELATED [OMIM:614504]
synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical, OMIM:614504]
synonym: "USHER syndrome, type IIIB; USH3B" RELATED [OMIM:614504]
xref: DOID:0110842 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110842", source="MONDO:relatedTo"}
xref: OMIM:614504 {source="DOID:0110842", source="MONDO:equivalentTo"}
xref: UMLS:C3281066 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614504"}
is_a: MONDO:0016485 {source="DOID:0110842", source="MONDOLEX:0013788"} ! Usher syndrome type 3
property_value: exactMatch DOID:0110842
property_value: exactMatch http://identifiers.org/omim/614504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281066

[Term]
id: MONDO:0013789
name: DDOST-CDG
def: "(1p36.1)." [Orphanet:300536]
subset: ordo_disease {source="Orphanet:300536"}
synonym: "carbohydrate deficient glycoprotein syndrome type" RELATED [GARD:0012398]
synonym: "carbohydrate deficient glycoprotein syndrome type Ir" EXACT [Orphanet:300536]
synonym: "CDG syndrome type Ir" EXACT [Orphanet:300536]
synonym: "CDG-Ir" EXACT [Orphanet:300536]
synonym: "CDG1R" EXACT [MONDO:Lexical, OMIM:614507, Orphanet:300536]
synonym: "congenital disorder of glycosylation type 1r" EXACT [Orphanet:300536]
synonym: "congenital disorder of glycosylation type Ir" EXACT [Orphanet:300536]
synonym: "congenital disorder of glycosylation, type Ir" RELATED [MONDO:Lexical, OMIM:614507]
synonym: "congenital disorder of glycosylation, type Ir; CDG1R" RELATED [OMIM:614507]
synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398]
xref: GARD:0012398 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:300536/attributed", source="ORDO:300536/ntbt", source="Orphanet:300536"}
xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="ORDO:300536/e"}
xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"}
xref: SCTID:733083006 {source="MONDO:equivalentTo"}
xref: UMLS:C3281084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614507"}
is_a: MONDO:0005500 {source="DC-OMIM:614507", source="MONDOLEX:0013789"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:300536"} ! disorder of protein N-glycosylation
is_a: MONDO:0018284 {source="Orphanet:300536"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018288 {source="Orphanet:300536"} ! congenital disorder of glycosylation with hepatic involvement
property_value: exactMatch http://identifiers.org/omim/614507
property_value: exactMatch http://identifiers.org/snomedct/733083006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281084
property_value: exactMatch Orphanet:300536

[Term]
id: MONDO:0013790
name: mirror movements 2
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial congenital mirror movements caused by mutation in RAD51" EXACT [MONDO:design_pattern]
synonym: "mirror movements 2" EXACT [MONDO:Lexical, OMIM:614508]
synonym: "mirror movements 2; MRMV2" RELATED [OMIM:614508]
synonym: "mirror movements type 2" EXACT [MONDORULE:1, OMIM:614508]
synonym: "MRMV2" RELATED [MONDO:Lexical, OMIM:614508]
synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614508 {source="MONDO:equivalentTo"}
xref: UMLS:C3281089 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614508"}
is_a: MONDO:0016558 {source="DC-OMIM:614508", source="MONDO:Redundant", source="OMIM:614508", source="ORDO:238722/btnt"} ! familial congenital mirror movements
property_value: exactMatch http://identifiers.org/omim/614508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281089

[Term]
id: MONDO:0013791
name: thrombophilia due to protein S deficiency, autosomal recessive
synonym: "THPH6" RELATED [MONDO:Lexical, OMIM:614514]
synonym: "thrombophilia due to protein S deficiency, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614514]
synonym: "thrombophilia due to PROTEIN S deficiency, autosomal recessive; THPH6" RELATED [OMIM:614514]
xref: OMIM:614514 {source="MONDO:equivalentTo"}
xref: UMLS:C3281092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614514"}
is_a: MONDO:0019144 {source="ORDO:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency
property_value: exactMatch http://identifiers.org/omim/614514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281092

[Term]
id: MONDO:0013792
name: intracerebral hemorrhage
def: "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." [MESH:D002543]
comment: Editor note: consider separate subclass for OMIM ID
synonym: "hemorrhage, intracerebral, susceptibility to" RELATED [MONDO:Lexical, OMIM:614519]
synonym: "hemorrhage, intracerebral, susceptibility to; ich" RELATED [OMIM:614519]
synonym: "ich" RELATED [MONDO:Lexical, OMIM:614519]
synonym: "stroke, hemorrhagic, susceptibility to" RELATED [OMIM:614519]
xref: EFO:0005669 {source="MONDO:equivalentTo"}
xref: ICD9:431 {source="EFO:0005669"}
xref: MESH:D002543 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614519 {source="EFO:0005669", source="MONDO:equivalentTo"}
xref: SCTID:274100004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005049 {source="EFO:0005669", source="MESH:D002543"} ! intracranial hemorrhage
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019191
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3281105
property_value: exactMatch http://identifiers.org/mesh/D002543
property_value: exactMatch http://identifiers.org/omim/614519
property_value: exactMatch http://identifiers.org/snomedct/274100004

[Term]
id: MONDO:0013793
name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
synonym: "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" EXACT [OMIM:614520]
xref: OMIM:614520 {source="MONDO:equivalentTo"}
xref: UMLS:C3281106 {source="OMIM:614520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281106

[Term]
id: MONDO:0013794
name: thrombocythemia 3
def: "Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential thrombocythemia caused by mutation in JAK2" EXACT [MONDO:design_pattern]
synonym: "JAK2 essential thrombocythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THCYT3" RELATED [MONDO:Lexical, OMIM:614521]
synonym: "thrombocythemia 3" EXACT [MONDO:Lexical, OMIM:614521]
synonym: "thrombocythemia 3; THCYT3" RELATED [OMIM:614521]
synonym: "thrombocythemia type 3" EXACT [MONDORULE:1, OMIM:614521]
synonym: "thrombocytosis 3" RELATED [OMIM:614521]
xref: OMIM:614521 {source="MONDO:equivalentTo"}
xref: UMLS:C3281125 {source="OMIM:614521", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002249 {source="DC-OMIM:614521"} ! thrombocytosis disease
is_a: MONDO:0005029 {source="MONDO:Redundant"} ! essential thrombocythemia
property_value: exactMatch http://identifiers.org/omim/614521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281125

[Term]
id: MONDO:0013795
name: fibrochondrogenesis 2
def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL11A2 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBCG2" RELATED [MONDO:Lexical, OMIM:614524]
synonym: "fibrochondrogenesis 2" EXACT [MONDO:Lexical, OMIM:614524]
synonym: "fibrochondrogenesis 2; FBCG2" RELATED [OMIM:614524]
synonym: "fibrochondrogenesis caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1, OMIM:614524]
xref: OMIM:614524 {source="MONDO:equivalentTo"}
xref: UMLS:C3281128 {source="OMIM:614524", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016068 {source="DC-OMIM:614524", source="MONDO:Redundant", source="OMIM:614524"} ! fibrochondrogenesis
property_value: exactMatch http://identifiers.org/omim/614524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281128

[Term]
id: MONDO:0013796
name: chromosome 17q12 duplication syndrome
def: "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." [Orphanet:261272]
subset: ordo_malformation_syndrome {source="Orphanet:261272"}
synonym: "17q12 duplication" RELATED [GARD:0013296]
synonym: "17q12 microduplication" RELATED [GARD:0013296]
synonym: "17q12 microduplication syndrome" EXACT [DOID:0060433]
synonym: "chromosome 17q12 duplication syndrome" EXACT [OMIM:614526]
synonym: "dup(17)(q12)" EXACT [Orphanet:261272]
synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296]
synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272]
xref: DOID:0060433 {source="MONDO:equivalentTo"}
xref: GARD:0013296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q92.3 {source="Orphanet:261272", source="DOID:0060433", source="ORDO:261272/attributed", source="ORDO:261272/ntbt"}
xref: OMIM:614526 {source="ORDO:261272/e", source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo"}
xref: Orphanet:261272 {source="DOID:0060433", source="MONDO:equivalentTo", source="OMIM:614526"}
xref: SCTID:764435003 {source="MONDO:equivalentTo"}
xref: UMLS:C3281137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614526"}
is_a: MONDO:0000762 {source="DC-OMIM:614526", source="DOID:0060433"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016967 {source="MONDOLEX:0013796", source="Orphanet:261272"} ! partial duplication of the long arm of chromosome 17
property_value: exactMatch DOID:0060433
property_value: exactMatch http://identifiers.org/omim/614526
property_value: exactMatch http://identifiers.org/snomedct/764435003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281137
property_value: exactMatch Orphanet:261272

[Term]
id: MONDO:0013797
name: chromosome 17q12 deletion syndrome
def: "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." [Orphanet:261265]
subset: ordo_malformation_syndrome {source="Orphanet:261265"}
synonym: "17q12 deletion syndrome" RELATED [GARD:0013297]
synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404]
synonym: "17q12 recurrent deletion syndrome" RELATED [GARD:0013297]
synonym: "chromosome 17q12 deletion syndrome" EXACT [OMIM:614527]
synonym: "Del(17)(q12)" EXACT [Orphanet:261265]
synonym: "monosomy 17q12" EXACT [Orphanet:261265]
xref: DOID:0060404 {source="MONDO:equivalentTo"}
xref: GARD:0013297 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="ORDO:261265/attributed", source="ORDO:261265/ntbt", source="Orphanet:261265", source="DOID:0060404"}
xref: OMIM:614527 {source="ORDO:261265/e", source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404"}
xref: Orphanet:261265 {source="MONDO:equivalentTo", source="DOID:0060404", source="OMIM:614527"}
xref: SCTID:733519008 {source="MONDO:equivalentTo"}
xref: UMLS:C3281138 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614527"}
xref: UMLS:C4518822 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000761 {source="DC-OMIM:614527", source="DOID:0060404"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016915 {source="Orphanet:261265"} ! partial deletion of the long arm of chromosome 17
property_value: exactMatch DOID:0060404
property_value: exactMatch http://identifiers.org/omim/614527
property_value: exactMatch http://identifiers.org/snomedct/733519008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518822
property_value: exactMatch Orphanet:261265

[Term]
id: MONDO:0013798
name: chromosome 16q22 deletion syndrome
synonym: "chromosome 16q22 deletion syndrome" EXACT [OMIM:614541]
xref: DOID:0060401 {source="MONDO:equivalentTo"}
xref: OMIM:614541 {source="MONDO:equivalentTo", source="DOID:0060401"}
xref: UMLS:C3281152 {source="OMIM:614541", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:614541", source="DOID:0060401"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch DOID:0060401
property_value: exactMatch http://identifiers.org/omim/614541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281152

[Term]
id: MONDO:0013799
name: efavirenz, poor metabolism of
synonym: "efavirenz central nervous system toxicity, susceptibility to" RELATED [OMIM:614546]
synonym: "efavirenz, poor metabolism of" EXACT [OMIM:614546]
xref: OMIM:614546 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3281153
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3281154
property_value: closeMatch Orphanet:240869
property_value: exactMatch http://identifiers.org/omim/614546

[Term]
id: MONDO:0013800
name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
def: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." [Orphanet:300179]
subset: ordo_disease {source="Orphanet:300179"}
synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179]
synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179]
synonym: "EDS, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179]
synonym: "EDSKMH" RELATED [MONDO:Lexical, OMIM:614557]
synonym: "EDSKSCL2" RELATED [OMIM:614557]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" RELATED [MONDO:Lexical, OMIM:614557]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH" RELATED [OMIM:614557]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" RELATED [OMIM:614557]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2; EDSKSCL2" RELATED [OMIM:614557]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:300179", source="ORDO:300179/attributed", source="ORDO:300179/ntbt"}
xref: OMIM:614557 {source="ORDO:300179/e", source="Orphanet:300179", source="MONDO:equivalentTo"}
xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"}
xref: SCTID:720859009 {source="MONDO:kboom-pr-1.00/0.80/9.28", source="MONDO:equivalentTo"}
xref: UMLS:C3281160 {source="OMIM:614557", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="MONDOLEX:0013800", source="OMIM:614557", source="Orphanet:300179", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: exactMatch http://identifiers.org/omim/614557
property_value: exactMatch http://identifiers.org/snomedct/720859009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281160
property_value: exactMatch Orphanet:300179

[Term]
id: MONDO:0013801
name: epileptic encephalopathy, early infantile, 13
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy-13" RELATED [GARD:0013085]
synonym: "EIEE13" RELATED [MONDO:Lexical, OMIM:614558]
synonym: "epileptic encephalopathy, early infantile, 13" EXACT [MONDO:Lexical, OMIM:614558]
synonym: "epileptic encephalopathy, early infantile, 13; EIEE13" RELATED [OMIM:614558]
synonym: "epileptic encephalopathy, early infantile, type 13" EXACT [MONDORULE:2, OMIM:614558]
synonym: "SCN8A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCN8A encephalopathy" RELATED [GARD:0013085]
synonym: "SCN8A epilepsy" RELATED [GARD:0013085]
xref: GARD:0013085 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:614558 {source="MONDO:equivalentTo"}
xref: SCTID:765170001 {source="MONDO:equivalentTo"}
xref: UMLS:C3281191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614558"}
is_a: MONDO:0016021 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/614558
property_value: exactMatch http://identifiers.org/snomedct/765170001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281191

[Term]
id: MONDO:0013802
name: infantile cerebellar-retinal degeneration
def: "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum . Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." [https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration]
subset: gard_rare {source="GARD:0013264"}
subset: ordo_disease {source="Orphanet:313850"}
synonym: "ICRD" RELATED [MONDO:Lexical, OMIM:614559]
synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264]
synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559]
synonym: "infantile cerebellar-retinal degeneration; ICRD" RELATED [OMIM:614559]
xref: DOID:0050883 {source="MONDO:equivalentTo"}
xref: GARD:0013264 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="Orphanet:313850", source="ORDO:313850/attributed", source="ORDO:313850/ntbt"}
xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="ORDO:313850/e"}
xref: Orphanet:313850 {source="MONDO:equivalentTo", source="OMIM:614559"}
xref: UMLS:C3281192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614559"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0019058 {source="Orphanet:313850"} ! neurometabolic disease
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited retinal dystrophy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:313850", source="indirect"} ! inherited neurodegenerative disorder
property_value: exactMatch DOID:0050883
property_value: exactMatch http://identifiers.org/omim/614559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281192
property_value: exactMatch Orphanet:313850
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration xsd:anyURI {source="GARD:0013264"}

[Term]
id: MONDO:0013803
name: leukoencephalopathy with calcifications and cysts
subset: ordo_disease
synonym: "Labrune syndrome" RELATED [OMIM:614561]
synonym: "LCC" EXACT [MONDO:Lexical, OMIM:614561]
synonym: "leukoencephalopathy, brain calcifications, and cysts" EXACT [MONDO:Lexical, OMIM:614561]
synonym: "leukoencephalopathy, brain calcifications, and cysts; LCC" EXACT [OMIM:614561]
xref: MESH:C000598644 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614561 {source="Orphanet:542310", source="MONDO:equivalentTo"}
xref: Orphanet:542310 {source="MONDO:equivalentTo"}
xref: UMLS:C3281200 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614561"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018787 {source="Orphanet:542310"} ! genetic cerebral small vessel disease
property_value: exactMatch http://identifiers.org/mesh/C000598644
property_value: exactMatch http://identifiers.org/omim/614561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281200
property_value: exactMatch Orphanet:542310

[Term]
id: MONDO:0013804
name: intellectual disability, autosomal dominant 12
comment: Editor note: consider merging with CSS1
synonym: "autosomal dominant mental retardation 12" EXACT [DOID:0070042]
synonym: "Coffin-Siris syndrome 1" RELATED [DOID:0070042]
synonym: "CSS1" EXACT [DOID:0070042]
synonym: "fifth digit syndrome" EXACT [DOID:0070042]
synonym: "mental retardation, autosomal dominant 12" RELATED [MONDO:Lexical, OMIM:614562]
synonym: "mental retardation, autosomal dominant 12; MRD12" RELATED [OMIM:614562]
synonym: "mental retardation, autosomal dominant type 12" EXACT [MONDORULE:2, OMIM:614562]
synonym: "moved to 135900" RELATED [OMIM:614562]
synonym: "MRD12" EXACT [DOID:0070042, MONDO:Lexical, OMIM:614562]
xref: DOID:0070042 {source="MONDO:equivalentTo"}
xref: OMIM:614562 {source="MONDO:equivalentTo"}
xref: UMLS:C3281201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614562"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015452 ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070042"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070042
property_value: exactMatch http://identifiers.org/omim/614562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281201

[Term]
id: MONDO:0013805
name: intellectual disability, autosomal dominant 13
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 13" EXACT [DOID:0070043]
synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern]
synonym: "DYNC1H1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 13" RELATED [MONDO:Lexical, OMIM:614563]
synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT [DOID:0070043]
synonym: "mental retardation, autosomal dominant 13; MRD13" RELATED [OMIM:614563]
synonym: "mental retardation, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:614563]
synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED [OMIM:614563]
synonym: "MRD13" EXACT [DOID:0070043, MONDO:Lexical, OMIM:614563]
xref: DOID:0070043 {source="MONDO:equivalentTo"}
xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"}
xref: UMLS:C3281202 {source="OMIM:614563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:614563", source="DOID:0070043", source="MONDO:Redundant", source="OMIM:614563"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070043
property_value: exactMatch http://identifiers.org/omim/614563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281202

[Term]
id: MONDO:0013806
name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
subset: ordo_disease {source="Orphanet:313846"}
synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical, OMIM:614564]
synonym: "cutaneous telangiectasia and cancer syndrome, familial; FCTCS" RELATED [OMIM:614564]
synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [Orphanet:313846]
synonym: "FCTCS" RELATED [MONDO:Lexical, OMIM:614564]
synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564]
xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="ORDO:313846/e"}
xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"}
xref: UMLS:C3281203 {source="OMIM:614564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:313846"} ! hereditary neoplastic syndrome
is_a: MONDO:0019293 {source="Orphanet:313846"} ! skin vascular disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/omim/614564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281203
property_value: exactMatch Orphanet:313846

[Term]
id: MONDO:0013807
name: congenital stationary night blindness 1E
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [DOID:0110869]
synonym: "congenital stationary night blindness caused by mutation in GPR179" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1E" EXACT [DOID:0110869, MONDORULE:4]
synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:614565]
synonym: "CSNB1E" EXACT [DOID:0110869, MONDO:Lexical, OMIM:614565]
synonym: "GPR179 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical, OMIM:614565]
synonym: "night blindness, congenital stationary, type 1E; CSNB1E" RELATED [OMIM:614565]
xref: DOID:0110869 {source="MONDO:equivalentTo"}
xref: OMIM:614565 {source="MONDO:equivalentTo", source="DOID:0110869"}
xref: UMLS:C3281215 {source="OMIM:614565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016293 {source="DC-OMIM:614565", source="DOID:0110869", source="MONDO:Redundant", source="MONDOLEX:0013807", source="OMIM:614565"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110869
property_value: exactMatch http://identifiers.org/omim/614565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281215

[Term]
id: MONDO:0013808
name: Maffucci syndrome
def: "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." [Orphanet:163634]
subset: gard_rare {source="GARD:0006958"}
subset: ordo_disease {source="Orphanet:163634"}
synonym: "chondrodysplasia with hemangioma" EXACT [NCIT:C3213]
synonym: "Chondroplasia angiomatosis" EXACT [NCIT:C3213]
synonym: "Dyschondrodysplasia with hemangiomas" RELATED [GARD:0006958]
synonym: "Dyschondroplasia and cavernous hemangioma" EXACT [NCIT:C3213]
synonym: "enchondromatosis with hemangiomata" EXACT [NCIT:C3213]
synonym: "enchondromatosis with multiple cavernous hemangiomas" RELATED [GARD:0006958]
synonym: "hemangiomata with Dyschondroplasia" EXACT [NCIT:C3213]
synonym: "hemangiomatosis Chondrodystrophica" RELATED [GARD:0006958]
synonym: "Kast syndrome" RELATED [GARD:0006958]
synonym: "Maffucci syndrome" EXACT [OMIM:614569]
synonym: "Maffucci's anomalad" EXACT [NCIT:C3213]
synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958]
synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569]
xref: DOID:0060221 {source="MONDO:equivalentTo"}
xref: GARD:0006958 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.4 {source="ORDO:163634/inclusion", source="ORDO:163634/ntbt", source="DOID:0060221", source="Orphanet:163634"}
xref: NCIT:C3213 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIM:614569 {source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634", source="ORDO:163634/e"}
xref: Orphanet:163634 {source="DOID:0060221", source="MONDO:equivalentTo", source="OMIM:614569"}
xref: SCTID:46041001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0024454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614569", source="NCIT:C3213", source="Orphanet:163634", source="ORDO:163634/e"}
is_a: MONDO:0015356 {source="Orphanet:163634"} ! hereditary neoplastic syndrome
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0016235 {source="Orphanet:163634"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019293 {source="Orphanet:163634"} ! skin vascular disease
is_a: MONDO:0019708 {source="Orphanet:163634"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0019716 {source="Orphanet:163634"} ! overgrowth syndrome
is_a: MONDO:0020063 {source="Orphanet:163634"} ! malformation syndrome with hamartosis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024499 ! vascular bone neoplasm
property_value: exactMatch DOID:0060221
property_value: exactMatch http://identifiers.org/omim/614569
property_value: exactMatch http://identifiers.org/snomedct/46041001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024454
property_value: exactMatch NCIT:C3213
property_value: exactMatch Orphanet:163634
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome xsd:anyURI {source="GARD:0006958"}

[Term]
id: MONDO:0013809
name: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
synonym: "CANVAS" EXACT [MONDO:Lexical, OMIM:614575]
synonym: "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" EXACT [MONDO:Lexical, OMIM:614575]
synonym: "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; CANVAS" EXACT [OMIM:614575]
xref: OMIM:614575 {source="MONDO:equivalentTo"}
xref: UMLS:C3281223 {source="OMIM:614575", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281223

[Term]
id: MONDO:0013810
name: COG6-CGD
subset: ordo_disease {source="Orphanet:464443"}
synonym: "CDG IIL" RELATED [OMIM:614576]
synonym: "CDG syndrome type IIL" EXACT [Orphanet:464443]
synonym: "CDG-IIL" EXACT [Orphanet:464443]
synonym: "CDG2L" EXACT [MONDO:Lexical, OMIM:614576, Orphanet:464443]
synonym: "CDGIIl" RELATED [GARD:0010944]
synonym: "COG6-CDG (CDG-IIL)" RELATED [GARD:0010944]
synonym: "congenital disorder of glycosylation type 2l" EXACT [Orphanet:464443]
synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443]
synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576]
synonym: "congenital disorder of glycosylation, type IIL; CDG2L" RELATED [OMIM:614576]
xref: DOID:0070264 {source="MONDO:equivalentTo"}
xref: GARD:0010944 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:464443", source="ORDO:464443/attributed", source="ORDO:464443/ntbt"}
xref: OMIM:614576 {source="Orphanet:464443", source="ORDO:464443/e", source="MONDO:equivalentTo"}
xref: Orphanet:464443 {source="MONDO:equivalentTo"}
xref: UMLS:C3553230 {source="OMIM:614576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:614576", source="MONDOLEX:0013810", source="OMIM:614576"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017750 {source="Orphanet:464443"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018284 {source="Orphanet:464443"} ! congenital disorder of glycosylation with neurological involvement
property_value: exactMatch DOID:0070264
property_value: exactMatch http://identifiers.org/omim/614576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553230
property_value: exactMatch Orphanet:464443

[Term]
id: MONDO:0013811
name: combined oxidative phosphorylation defect type 9
def: "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." [Orphanet:319509]
subset: ordo_disease {source="Orphanet:319509"}
synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582]
synonym: "combined oxidative phosphorylation deficiency 9; COXPD9" RELATED [OMIM:614582]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1, OMIM:614582]
synonym: "COXPD9" EXACT [MONDO:Lexical, OMIM:614582, Orphanet:319509]
synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:I42.2 {source="Orphanet:319509", source="ORDO:319509/attributed", source="ORDO:319509/ntbt"}
xref: OMIM:614582 {source="Orphanet:319509", source="ORDO:319509/e", source="MONDO:equivalentTo"}
xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"}
xref: SCTID:763209008 {source="MONDO:equivalentTo"}
xref: UMLS:C3281234 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614582"}
is_a: MONDO:0000732 {source="DC-OMIM:614582", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:319509"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614582
property_value: exactMatch http://identifiers.org/snomedct/763209008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281234
property_value: exactMatch Orphanet:319509

[Term]
id: MONDO:0013812
name: Baraitser-winter syndrome 2
def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1" EXACT [MONDO:design_pattern]
synonym: "Baraitser-winter syndrome 2" EXACT [MONDO:Lexical, OMIM:614583]
synonym: "Baraitser-WINTER syndrome 2; BRWS2" RELATED [OMIM:614583]
synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1, OMIM:614583]
synonym: "BRWS2" RELATED [MONDO:Lexical, OMIM:614583]
xref: OMIM:614583 {source="MONDO:equivalentTo"}
xref: UMLS:C3281235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614583"}
is_a: MONDO:0017579 {source="DC-OMIM:614583", source="MONDO:Redundant", source="OMIM:614583"} ! Baraitser-Winter cerebrofrontofacial syndrome
property_value: exactMatch http://identifiers.org/omim/614583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281235

[Term]
id: MONDO:0013813
name: dystonia 21
def: "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." [Orphanet:306734]
subset: ordo_disease {source="Orphanet:306734"}
synonym: "dystonia 21" EXACT [MONDO:Lexical, OMIM:614588]
synonym: "dystonia 21; DYT21" RELATED [OMIM:614588]
synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2]
synonym: "DYT21" EXACT [MONDO:Lexical, OMIM:614588, Orphanet:306734]
synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734]
xref: DOID:0090046 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="Orphanet:306734", source="DOID:0090046", source="ORDO:306734/attributed", source="ORDO:306734/ntbt"}
xref: OMIM:614588 {source="Orphanet:306734", source="ORDO:306734/e", source="MONDO:equivalentTo", source="DOID:0090046"}
xref: Orphanet:306734 {source="OMIM:614588", source="MONDO:equivalentTo", source="DOID:0090046"}
xref: UMLS:C3281236 {source="OMIM:614588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018303 {source="Orphanet:306734"} ! generalized isolated dystonia
property_value: exactMatch DOID:0090046
property_value: exactMatch http://identifiers.org/omim/614588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281236
property_value: exactMatch Orphanet:306734

[Term]
id: MONDO:0013814
name: PDCOS
synonym: "endemic Nonfilarial elephantiasis, susceptibility to" RELATED [OMIM:614590]
synonym: "lymphostatic verrucosis, susceptibility to" RELATED [OMIM:614590]
synonym: "Nonfilarial elephantiasis of Lower legs, susceptibility to" RELATED [OMIM:614590]
synonym: "PDCOS" EXACT [MONDO:Lexical, OMIM:614590]
synonym: "podoconiosis, susceptibility to" RELATED [MONDO:Lexical, OMIM:614590]
synonym: "podoconiosis, susceptibility to; PDCOS" RELATED [OMIM:614590]
xref: OMIM:614590 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3281245
property_value: exactMatch http://identifiers.org/omim/614590

[Term]
id: MONDO:0013815
name: FGFR2-related bent bone dysplasia
subset: ordo_disease {source="Orphanet:313855"}
synonym: "BBDS" RELATED [MONDO:Lexical, OMIM:614592]
synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965]
synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592]
synonym: "bent bone dysplasia syndrome; BBDS" RELATED [OMIM:614592]
synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855]
xref: GARD:0010965 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:614592 {source="Orphanet:313855", source="ORDO:313855/e", source="MONDO:equivalentTo"}
xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"}
xref: UMLS:C3281247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614592"}
is_a: MONDO:0019698 {source="Orphanet:313855"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/omim/614592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281247
property_value: exactMatch Orphanet:313855

[Term]
id: MONDO:0013816
name: palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
synonym: "Olmsted syndrome" RELATED [OMIM:614594]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [OMIM:614594]
xref: OMIM:614594 {source="MONDO:equivalentTo"}
is_a: MONDO:0019014 {source="ORDO:659/btnt"} ! mutilating palmoplantar keratoderma with periorificial keratotic plaques
property_value: exactMatch http://identifiers.org/omim/614594

[Term]
id: MONDO:0013817
name: preeclampsia/eclampsia 5
def: "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CORIN preeclampsia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Corin preeclampsia" EXACT [MONDO:design_pattern]
synonym: "PEE5" RELATED [MONDO:Lexical, OMIM:614595]
synonym: "preeclampsia caused by mutation in CORIN" EXACT []
synonym: "preeclampsia caused by mutation in Corin" EXACT [MONDO:design_pattern]
synonym: "preeclampsia/eclampsia 5" EXACT [MONDO:Lexical, OMIM:614595]
synonym: "PREECLAMPSIA/eclampsia 5; PEE5" RELATED [OMIM:614595]
synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1, OMIM:614595]
xref: OMIM:614595 {source="MONDO:equivalentTo"}
xref: UMLS:C3281288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614595"}
is_a: MONDO:0005081 {source="DC-OMIM:614595", source="MONDO:Redundant", source="MONDOLEX:0013817", source="OMIM:614595"} ! preeclampsia
property_value: exactMatch http://identifiers.org/omim/614595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281288

[Term]
id: MONDO:0013818
name: trichohepatoenteric syndrome 2
def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SKIV2L tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THES2" RELATED [MONDO:Lexical, OMIM:614602]
synonym: "tricho-hepato-enteric syndrome caused by mutation in SKIV2L" EXACT [MONDO:design_pattern]
synonym: "Trichohepatoenteric syndrome 2" EXACT [MONDO:Lexical, OMIM:614602]
synonym: "TRICHOHEPATOENTERIC syndrome 2; THES2" RELATED [OMIM:614602]
synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1, OMIM:614602]
xref: OMIM:614602 {source="MONDO:equivalentTo"}
xref: UMLS:C3281289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614602"}
is_a: MONDO:0009105 {source="MONDO:Redundant", source="MONDOLEX:0013818", source="OMIM:614602", source="ORDO:84064/btnt"} ! tricho-hepato-enteric syndrome
property_value: exactMatch http://identifiers.org/omim/614602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281289

[Term]
id: MONDO:0013819
name: intellectual disability, autosomal dominant 14
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARID1A Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 14" EXACT [DOID:0070044]
synonym: "Coffin-Siris syndrome 2" RELATED [DOID:0070044, OMIM:614607]
synonym: "COFFIN-SIRIS syndrome 2; CSS2" RELATED [OMIM:614607]
synonym: "Coffin-Siris syndrome caused by mutation in ARID1A" EXACT [MONDO:design_pattern]
synonym: "CSS2" EXACT [DOID:0070044, OMIM:614607]
synonym: "mental retardation, autosomal dominant 14" RELATED [MONDO:Lexical, OMIM:614607]
synonym: "mental retardation, autosomal dominant 14; MRD14" RELATED [OMIM:614607]
synonym: "mental retardation, autosomal dominant type 14" EXACT [MONDORULE:2, OMIM:614607]
synonym: "MRD14" EXACT [DOID:0070044, MONDO:Lexical, OMIM:614607]
xref: DOID:0070044 {source="MONDO:equivalentTo"}
xref: OMIM:614607 {source="DOID:0070044", source="MONDO:equivalentTo"}
xref: UMLS:C3553247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614607"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015452 {source="DC-OMIM:614607", source="MONDO:Redundant", source="OMIM:614607", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070044"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070044
property_value: exactMatch http://identifiers.org/omim/614607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553247

[Term]
id: MONDO:0013820
name: intellectual disability, autosomal dominant 15
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 15" EXACT [DOID:0070045]
synonym: "COFFIN-SIRIS syndrome 3" EXACT [OMIM:614608]
synonym: "COFFIN-SIRIS syndrome 3; CSS3" RELATED [OMIM:614608]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCB1" EXACT [MONDO:design_pattern]
synonym: "CSS3" EXACT [DOID:0070045, OMIM:614608]
synonym: "mental retardation, autosomal dominant 15" RELATED [MONDO:Lexical, OMIM:614608]
synonym: "mental retardation, autosomal dominant 15; MRD15" RELATED [OMIM:614608]
synonym: "mental retardation, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:614608]
synonym: "MRD15" EXACT [DOID:0070045, MONDO:Lexical, OMIM:614608]
synonym: "SMARCB1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070045 {source="MONDO:equivalentTo"}
xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"}
xref: UMLS:C3553248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614608"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015452 {source="DC-OMIM:614608", source="MONDO:Redundant", source="OMIM:614608", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070045"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070045
property_value: exactMatch http://identifiers.org/omim/614608
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553248

[Term]
id: MONDO:0013821
name: intellectual disability, autosomal dominant 16
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 16" EXACT [DOID:0070046]
synonym: "COFFIN-SIRIS syndrome 4" EXACT [OMIM:614609]
synonym: "COFFIN-SIRIS syndrome 4; CSS4" RELATED [OMIM:614609]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCA4" EXACT [MONDO:design_pattern]
synonym: "CSS4" EXACT [DOID:0070046, OMIM:614609]
synonym: "mental retardation, autosomal dominant 16" RELATED [MONDO:Lexical, OMIM:614609]
synonym: "mental retardation, autosomal dominant 16; MRD16" RELATED [OMIM:614609]
synonym: "mental retardation, autosomal dominant type 16" EXACT [MONDORULE:2, OMIM:614609]
synonym: "MRD16" EXACT [DOID:0070046, MONDO:Lexical, OMIM:614609]
synonym: "SMARCA4 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070046 {source="MONDO:equivalentTo"}
xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"}
xref: UMLS:C3553249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614609"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015452 {source="DC-OMIM:614609", source="MONDO:Redundant", source="OMIM:614609", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070046"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070046
property_value: exactMatch http://identifiers.org/omim/614609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553249

[Term]
id: MONDO:0013822
name: acrodysostosis 2 with or without hormone resistance
def: "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACRDYS2" RELATED [MONDO:Lexical, OMIM:614613]
synonym: "acrodysostosis 2 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:614613]
synonym: "acrodysostosis 2 with or without hormone resistance; ACRDYS2" RELATED [OMIM:614613]
synonym: "acrodysostosis caused by mutation in PDE4D" EXACT [MONDO:design_pattern]
synonym: "PDE4D acrodysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614613 {source="MONDO:equivalentTo"}
xref: UMLS:C3553250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614613"}
is_a: MONDO:0017240 {source="ORDO:280651/btnt"} ! acrodysostosis with multiple hormone resistance
is_a: MONDO:0019797 {source="DC-OMIM:614613", source="MONDO:Redundant", source="OMIM:614613"} ! acrodysostosis
property_value: exactMatch http://identifiers.org/omim/614613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553250

[Term]
id: MONDO:0013823
name: autosomal dominant nonsyndromic deafness 4B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 4B" EXACT [DOID:0110574]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 4B" EXACT [DOID:0110574, MONDORULE:4]
synonym: "CEACAM16 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 4B" RELATED [MONDO:Lexical, OMIM:614614]
synonym: "deafness, autosomal dominant 4B; DFNA4B" RELATED [OMIM:614614]
synonym: "deafness, autosomal dominant type 4B" EXACT [MONDORULE:4, OMIM:614614]
synonym: "DFNA4B" EXACT [DOID:0110574, MONDO:Lexical, OMIM:614614]
xref: DOID:0110574 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110574"}
xref: OMIM:614614 {source="MONDO:equivalentTo", source="DOID:0110574"}
xref: UMLS:C3281297 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614614"}
is_a: MONDO:0019587 {source="DC-OMIM:614614", source="DOID:0110574", source="MONDO:Redundant", source="OMIM:614614"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110574
property_value: exactMatch http://identifiers.org/omim/614614
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3281297

[Term]
id: MONDO:0013824
name: Joubert syndrome 17
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS17" EXACT [DOID:0110986, MONDO:Lexical, OMIM:614615]
synonym: "Joubert syndrome 17" EXACT [MONDO:Lexical, OMIM:614615]
synonym: "Joubert syndrome 17; JBTS17" RELATED [OMIM:614615]
synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615]
xref: DOID:0110986 {source="MONDO:equivalentTo"}
xref: OMIM:614615 {source="DOID:0110986", source="MONDO:equivalentTo"}
xref: UMLS:C3553264 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614615"}
is_a: MONDO:0018772 {source="DC-OMIM:614615", source="DOID:0110986", source="MONDO:Redundant", source="OMIM:614615"} ! Joubert syndrome
property_value: exactMatch DOID:0110986
property_value: exactMatch http://identifiers.org/omim/614615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553264

[Term]
id: MONDO:0013825
name: congenital diarrhea 6
def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:314373"}
synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780]
synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern]
synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1]
synonym: "DIAR6" RELATED [MONDO:Lexical, OMIM:614616]
synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616]
synonym: "diarrhea 6; DIAR6" RELATED [OMIM:614616]
synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616]
synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060780 {source="MONDO:equivalentTo"}
xref: ICD10:P78.3 {source="ORDO:314373/attributed", source="ORDO:314373/ntbt", source="DOID:0060780", source="Orphanet:314373"}
xref: OMIM:614616 {source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373", source="ORDO:314373/e"}
xref: Orphanet:314373 {source="DOID:0060780", source="MONDO:equivalentTo", source="OMIM:614616"}
xref: UMLS:C3553270 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614616"}
is_a: MONDO:0000824 {source="DC-OMIM:614616", source="DOID:0060780", source="MONDO:Redundant", source="MONDOLEX:0013825", source="OMIM:614616"} ! congenital diarrhea
is_a: MONDO:0021189 {source="Orphanet:314373"} ! intestinal motility disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: exactMatch DOID:0060780
property_value: exactMatch http://identifiers.org/omim/614616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553270
property_value: exactMatch Orphanet:314373

[Term]
id: MONDO:0013826
name: autosomal recessive nonsyndromic deafness 86
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 86" EXACT [DOID:0110532]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 86" EXACT [DOID:0110532, MONDORULE:2]
synonym: "deafness, autosomal recessive 86" RELATED [MONDO:Lexical, OMIM:614617]
synonym: "deafness, autosomal recessive 86; DFNB86" RELATED [OMIM:614617]
synonym: "deafness, autosomal recessive type 86" EXACT [MONDORULE:2, OMIM:614617]
synonym: "DFNB86" EXACT [DOID:0110532, MONDO:Lexical, OMIM:614617]
synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110532 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110532"}
xref: OMIM:614617 {source="MONDO:equivalentTo", source="DOID:0110532"}
xref: UMLS:C2829265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614617"}
is_a: MONDO:0019588 {source="DC-OMIM:614617", source="DOID:0110532", source="MONDO:Redundant", source="OMIM:614617"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110532
property_value: exactMatch http://identifiers.org/omim/614617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2829265

[Term]
id: MONDO:0013827
name: hyperekplexia 3
def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hyperekplexia caused by mutation in SLC6A5" EXACT [MONDO:design_pattern]
synonym: "HKPX3" EXACT [DOID:0060698, MONDO:Lexical, OMIM:614618]
synonym: "hyperekplexia 3" EXACT [MONDO:Lexical, OMIM:614618]
synonym: "hyperekplexia 3; HKPX3" RELATED [OMIM:614618]
synonym: "hyperekplexia type 3" EXACT [DOID:0060698, MONDORULE:1, OMIM:614618]
synonym: "SLC6A5 hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060698 {source="MONDO:equivalentTo"}
xref: ICD10:G25.8 {source="DOID:0060698"}
xref: OMIM:614618 {source="MONDO:equivalentTo", source="DOID:0060698"}
xref: UMLS:C3553288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614618"}
is_a: MONDO:0021022 {source="DOID:0060698", source="MONDO:Redundant", source="MONDOLEX:0013827", source="OMIM:614618", source="ORDO:3197/btnt"} ! hereditary hyperekplexia
property_value: exactMatch DOID:0060698
property_value: exactMatch http://identifiers.org/omim/614618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553288

[Term]
id: MONDO:0013828
name: hyperekplexia 2
def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GLRB hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hyperekplexia caused by mutation in GLRB" EXACT [MONDO:design_pattern]
synonym: "HKPX2" EXACT [DOID:0060697, MONDO:Lexical, OMIM:614619]
synonym: "hyperekplexia 2" EXACT [MONDO:Lexical, OMIM:614619]
synonym: "hyperekplexia 2; HKPX2" RELATED [OMIM:614619]
synonym: "hyperekplexia type 2" EXACT [DOID:0060697, MONDORULE:1, OMIM:614619]
xref: DOID:0060697 {source="MONDO:equivalentTo"}
xref: ICD10:G25.8 {source="DOID:0060697"}
xref: OMIM:614619 {source="DOID:0060697", source="MONDO:equivalentTo"}
xref: UMLS:C3553291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614619"}
is_a: MONDO:0021022 {source="DOID:0060697", source="MONDO:Redundant", source="MONDOLEX:0013828", source="OMIM:614619", source="ORDO:3197/btnt"} ! hereditary hyperekplexia
property_value: exactMatch DOID:0060697
property_value: exactMatch http://identifiers.org/omim/614619
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553291

[Term]
id: MONDO:0013829
name: UV-sensitive syndrome 2
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERCC8 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, OMIM:614621]
synonym: "UV-sensitive syndrome 2; UVSS2" RELATED [OMIM:614621]
synonym: "UV-sensitive syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1, OMIM:614621]
synonym: "UVSS2" RELATED [MONDO:Lexical, OMIM:614621]
xref: OMIM:614621 {source="MONDO:equivalentTo"}
xref: UMLS:C3553298 {source="OMIM:614621", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015797 {source="DC-OMIM:614621", source="MONDO:Redundant", source="OMIM:614621"} ! UV-sensitive syndrome
property_value: exactMatch http://identifiers.org/omim/614621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553298

[Term]
id: MONDO:0013830
name: KTCN5
synonym: "keratoconus 5" RELATED [MONDO:Lexical, OMIM:614622]
synonym: "keratoconus 5; KTCN5" RELATED [OMIM:614622]
synonym: "KTCN5" EXACT [MONDO:Lexical, OMIM:614622]
xref: OMIM:614622 {source="MONDO:equivalentTo"}
xref: UMLS:C3553302 {source="NCBI:mim2gene_medline", source="OMIM:614622", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DC-OMIM:614622", source="OMIM:614622"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/omim/614622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553302

[Term]
id: MONDO:0013831
name: KTCN6
synonym: "keratoconus 6" RELATED [MONDO:Lexical, OMIM:614623]
synonym: "keratoconus 6; KTCN6" RELATED [OMIM:614623]
synonym: "KTCN6" EXACT [MONDO:Lexical, OMIM:614623]
xref: OMIM:614623 {source="MONDO:equivalentTo"}
xref: UMLS:C3553306 {source="OMIM:614623", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="DC-OMIM:614623", source="OMIM:614623"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/omim/614623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553306

[Term]
id: MONDO:0013832
name: KTCN8
synonym: "keratoconus 8" RELATED [MONDO:Lexical, OMIM:614628]
synonym: "keratoconus 8; KTCN8" RELATED [OMIM:614628]
synonym: "KTCN8" EXACT [MONDO:Lexical, OMIM:614628]
xref: OMIM:614628 {source="MONDO:equivalentTo"}
xref: UMLS:C3553307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614628"}
is_a: MONDO:0015486 {source="DC-OMIM:614628", source="OMIM:614628"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/omim/614628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553307

[Term]
id: MONDO:0013833
name: KTCN7
synonym: "keratoconus 7" RELATED [MONDO:Lexical, OMIM:614629]
synonym: "keratoconus 7; KTCN7" RELATED [OMIM:614629]
synonym: "KTCN7" EXACT [MONDO:Lexical, OMIM:614629]
xref: OMIM:614629 {source="MONDO:equivalentTo"}
xref: UMLS:C3553308 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614629"}
is_a: MONDO:0015486 {source="DC-OMIM:614629", source="OMIM:614629"} ! keratoconus (disease)
property_value: closeMatch Orphanet:2335
property_value: exactMatch http://identifiers.org/omim/614629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553308

[Term]
id: MONDO:0013834
name: UV-sensitive syndrome 3
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "UV-sensitive syndrome 3" EXACT [MONDO:Lexical, OMIM:614640]
synonym: "UV-sensitive syndrome 3; UVSS3" RELATED [OMIM:614640]
synonym: "UV-sensitive syndrome caused by mutation in UVSSA" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1, OMIM:614640]
synonym: "UVSS3" RELATED [MONDO:Lexical, OMIM:614640]
synonym: "UVSSA UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614640 {source="MONDO:equivalentTo"}
xref: UMLS:C3553328 {source="OMIM:614640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015797 {source="DC-OMIM:614640", source="MONDO:Redundant", source="OMIM:614640"} ! UV-sensitive syndrome
property_value: exactMatch http://identifiers.org/omim/614640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553328

[Term]
id: MONDO:0013835
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA7" RELATED [MONDO:Lexical, OMIM:614643]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" EXACT [MONDO:Lexical, OMIM:614643]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7" RELATED [OMIM:614643]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" RELATED [OMIM:614643]
xref: OMIM:614643 {source="MONDO:equivalentTo"}
xref: UMLS:C3553330 {source="OMIM:614643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/614643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553330

[Term]
id: MONDO:0013836
name: familial steroid-resistant nephrotic syndrome with sensorineural deafness
subset: ordo_disease {source="Orphanet:280406"}
synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:614650]
synonym: "coenzyme Q10 deficiency, primary, 6; COQ10D6" RELATED [OMIM:614650]
synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650]
synonym: "COQ10D6" RELATED [MONDO:Lexical, OMIM:614650]
xref: DOID:0070243 {source="MONDO:equivalentTo"}
xref: ICD10:N04.8 {source="Orphanet:280406", source="ORDO:280406/attributed", source="ORDO:280406/ntbt"}
xref: OMIM:614650 {source="ORDO:280406/e", source="Orphanet:280406", source="MONDO:equivalentTo"}
xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"}
xref: UMLS:C3553349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614650"}
is_a: MONDO:0018151 {source="DC-OMIM:614650", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
is_a: MONDO:0019589 {source="Orphanet:280406"} ! syndromic genetic deafness
property_value: exactMatch DOID:0070243
property_value: exactMatch http://identifiers.org/omim/614650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553349
property_value: exactMatch Orphanet:280406

[Term]
id: MONDO:0013837
name: deafness-encephaloneuropathy-obesity-valvulopathy syndrome
def: "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." [Orphanet:254898]
subset: ordo_disease {source="Orphanet:254898"}
synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical, OMIM:614651]
synonym: "coenzyme Q10 deficiency, primary, 2; COQ10D2" RELATED [OMIM:614651]
synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614651]
synonym: "COQ10D2" RELATED [MONDO:Lexical, OMIM:614651]
synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898]
xref: DOID:0070239 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:254898/attributed", source="ORDO:254898/ntbt", source="Orphanet:254898"}
xref: OMIM:614651 {source="MONDO:equivalentTo", source="ORDO:254898/e", source="Orphanet:254898"}
xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"}
xref: UMLS:C3553354 {source="OMIM:614651", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018151 {source="DC-OMIM:614651", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0070239
property_value: exactMatch http://identifiers.org/omim/614651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553354
property_value: exactMatch Orphanet:254898

[Term]
id: MONDO:0013838
name: coenzyme Q10 deficiency, primary, 3
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "coenzyme Q10 deficiency caused by mutation in PDSS2" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 3" EXACT [MONDO:Lexical, OMIM:614652]
synonym: "coenzyme Q10 deficiency, primary, 3; COQ10D3" RELATED [OMIM:614652]
synonym: "coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1, OMIM:614652]
synonym: "COQ10D3" RELATED [MONDO:Lexical, OMIM:614652]
synonym: "PDSS2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070240 {source="MONDO:equivalentTo"}
xref: OMIM:614652 {source="MONDO:equivalentTo"}
xref: UMLS:C3553358 {source="OMIM:614652", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016816 {source="ORDO:255249/btnt"} ! Leigh syndrome with nephrotic syndrome
property_value: exactMatch DOID:0070240
property_value: exactMatch http://identifiers.org/omim/614652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553358

[Term]
id: MONDO:0013839
name: hereditary sensory and autonomic neuropathy type 6
def: "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:314381"}
synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381]
synonym: "hereditary sensory and autonomic neuropathy caused by mutation in DST" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [DOID:0070151, Orphanet:314381]
synonym: "HSAN 6" RELATED [OMIM:614653]
synonym: "HSAN6" EXACT [DOID:0070151, MONDO:Lexical, OMIM:614653, Orphanet:314381]
synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653]
synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653]
synonym: "neuropathy, hereditary sensory and autonomic, type VI; HSAN6" RELATED [OMIM:614653]
xref: DOID:0070151 {source="MONDO:equivalentTo"}
xref: ICD10:G60.8 {source="ORDO:314381/attributed", source="ORDO:314381/ntbt", source="Orphanet:314381", source="DOID:0070151"}
xref: OMIM:614653 {source="MONDO:equivalentTo", source="ORDO:314381/e", source="Orphanet:314381", source="DOID:0070151"}
xref: Orphanet:314381 {source="OMIM:614653", source="MONDO:equivalentTo", source="DOID:0070151"}
xref: UMLS:C3539003 {source="OMIM:614653", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015366 {source="Orphanet:314381"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070151
property_value: exactMatch http://identifiers.org/omim/614653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539003
property_value: exactMatch Orphanet:314381

[Term]
id: MONDO:0013840
name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
def: "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." [Orphanet:319678]
subset: ordo_disease {source="Orphanet:319678"}
synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:614654]
synonym: "coenzyme Q10 deficiency, primary, 5; COQ10D5" RELATED [OMIM:614654]
synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654]
synonym: "COQ10D5" RELATED [MONDO:Lexical, OMIM:614654]
xref: DOID:0070242 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:319678/attributed", source="ORDO:319678/ntbt", source="Orphanet:319678"}
xref: OMIM:614654 {source="MONDO:equivalentTo", source="ORDO:319678/e", source="Orphanet:319678"}
xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"}
xref: UMLS:C3553374 {source="OMIM:614654", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016327 {source="Orphanet:319678"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018151 {source="DC-OMIM:614654", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0070242
property_value: exactMatch http://identifiers.org/omim/614654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553374
property_value: exactMatch Orphanet:319678

[Term]
id: MONDO:0013841
name: stuttering, familial persistent, 3
synonym: "STUT3" EXACT [MONDO:Lexical, OMIM:614655]
synonym: "stuttering, familial persistent, 3" RELATED [OMIM:614655]
synonym: "stuttering, familial persistent, 3; STUT3" RELATED [OMIM:614655]
xref: OMIM:614655 {source="MONDO:equivalentTo"}
xref: UMLS:C3553381 {source="NCBI:mim2gene_medline", source="OMIM:614655", source="MONDO:equivalentTo"}
is_a: MONDO:0000723 {source="DC-OMIM:614655", source="OMIM:614655"} ! stutter disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/614655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553381

[Term]
id: MONDO:0013842
name: cortisone reductase deficiency 2
def: "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." [NCIT:C131084]
synonym: "11-beta-hydroxysteroid dehydrogenase type 1 deficiency" EXACT [NCIT:C131084]
synonym: "cortisone reductase deficiency 2" EXACT [MONDO:Lexical, OMIM:614662]
synonym: "cortisone reductase deficiency 2; CORTRD2" RELATED [OMIM:614662]
synonym: "cortisone reductase deficiency caused by mutation in HSD11B1" EXACT [MONDO:design_pattern]
synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE:1, NCIT:C131084, OMIM:614662]
synonym: "CORTRD2" EXACT [DOID:0090140, MONDO:Lexical, OMIM:614662]
synonym: "HSD11B1 cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090140 {source="MONDO:equivalentTo"}
xref: NCIT:C131084 {source="DOID:0090140", source="MONDO:equivalentTo"}
xref: OMIM:614662 {source="DOID:0090140", source="MONDO:equivalentTo"}
xref: UMLS:C3553382 {source="OMIM:614662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="ORDO:168588/btnt"} ! cortisone reductase deficiency
property_value: exactMatch DOID:0090140
property_value: exactMatch http://identifiers.org/omim/614662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553382
property_value: exactMatch NCIT:C131084

[Term]
id: MONDO:0013843
name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
def: "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:314376"}
synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "meconium ileus" BROAD [OMIM:614665]
synonym: "meconium ileus caused by mutation in GUCY2C" EXACT []
synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376]
xref: COHD:193591 {source="MONDO:equivalentTo"}
xref: ICD10:P76.0 {source="ORDO:314376/attributed", source="ORDO:314376/ntbt", source="Orphanet:314376"}
xref: ICD9:777.1 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:614665 {source="MONDO:equivalentTo", source="ORDO:314376/e", source="Orphanet:314376"}
xref: Orphanet:314376 {source="OMIM:614665", source="MONDO:equivalentTo"}
xref: SCTID:733447005 {source="MONDO:equivalentTo"}
is_a: MONDO:0021189 {source="Orphanet:314376"} ! intestinal motility disease
is_a: MONDO:0054868 ! meconium ileus
relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270246
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2939175
property_value: exactMatch http://identifiers.org/omim/614665
property_value: exactMatch http://identifiers.org/snomedct/733447005
property_value: exactMatch Orphanet:314376

[Term]
id: MONDO:0013844
name: stuttering, familial persistent, 4
synonym: "STUT4" EXACT [MONDO:Lexical, OMIM:614668]
synonym: "stuttering, familial persistent, 4" RELATED [] {comment="OMIM:614668"}
synonym: "stuttering, familial persistent, 4; STUT4" RELATED [OMIM:614668]
xref: OMIM:614668 {source="MONDO:equivalentTo"}
xref: UMLS:C3553403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614668"}
is_a: MONDO:0000723 {source="DC-OMIM:614668", source="OMIM:614668"} ! stutter disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/614668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553403

[Term]
id: MONDO:0013845
name: auriculocondylar syndrome 2
def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCND2" RELATED [MONDO:Lexical, OMIM:614669]
synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical, OMIM:614669]
synonym: "AURICULOCONDYLAR syndrome 2; ARCND2" RELATED [OMIM:614669]
synonym: "auriculocondylar syndrome caused by mutation in PLCB4" EXACT [MONDO:design_pattern]
synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1, OMIM:614669]
synonym: "PLCB4 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614669 {source="MONDO:equivalentTo"}
xref: UMLS:C3553404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614669"}
is_a: MONDO:0000107 {source="DC-OMIM:614669", source="MONDO:Redundant", source="OMIM:614669"} ! auriculocondylar syndrome
property_value: exactMatch http://identifiers.org/omim/614669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553404

[Term]
id: MONDO:0013846
name: peripartum cardiomyopathy, susceptibility to
subset: predisposition
synonym: "peripartum cardiomyopathy, susceptibility to" EXACT [OMIM:614670]
synonym: "Ppcm, susceptibility to" RELATED [OMIM:614670]
xref: OMIM:614670 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553406
property_value: exactMatch http://identifiers.org/omim/614670

[Term]
id: MONDO:0013847
name: chromosome 16p11.2 duplication syndrome
def: "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." [Orphanet:370079]
subset: ordo_malformation_syndrome {source="Orphanet:370079"}
subset: predisposition
synonym: "16p11.2 duplication" RELATED [GARD:0012388]
synonym: "16p11.2 duplication syndrome" RELATED [GARD:0012388]
synonym: "16p11.2 microduplication" RELATED [GARD:0012388]
synonym: "autism, susceptibility to, 14B" RELATED [OMIM:614671]
synonym: "AUTS14B" RELATED [GARD:0012388]
synonym: "chromosome 16p11.2 duplication syndrome" EXACT [OMIM:614671]
synonym: "proximal 16p11.2 microduplication syndrome" EXACT [DOID:0060430]
synonym: "proximal dup(16)(p11.2)" EXACT [DOID:0060430, Orphanet:370079]
synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079]
synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388]
xref: DOID:0060430 {source="MONDO:equivalentTo"}
xref: GARD:0012388 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q92.3 {source="DOID:0060430", source="ORDO:370079/attributed", source="ORDO:370079/ntbt", source="Orphanet:370079"}
xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="ORDO:370079/e", source="Orphanet:370079"}
xref: Orphanet:370079 {source="DOID:0060430", source="MONDO:equivalentTo", source="OMIM:614671"}
xref: SCTID:765142003 {source="MONDO:equivalentTo"}
xref: UMLS:C3553407 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:614671"}
is_a: MONDO:0000508 {source="Orphanet:370079"} ! syndromic intellectual disability
is_a: MONDO:0000762 {source="DC-OMIM:614671", source="DOID:0060430"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016949 {source="MONDOLEX:0013847", source="Orphanet:370079"} ! partial duplication of the short arm of chromosome 16
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150155
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553408
property_value: exactMatch DOID:0060430
property_value: exactMatch http://identifiers.org/omim/614671
property_value: exactMatch http://identifiers.org/snomedct/765142003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553407
property_value: exactMatch Orphanet:370079

[Term]
id: MONDO:0013848
name: dilated cardiomyopathy 2B
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 2B" RELATED [MONDO:Lexical, OMIM:614672]
synonym: "cardiomyopathy, dilated, 2B; CMD2B" RELATED [OMIM:614672]
synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4, OMIM:614672]
synonym: "CMD2B" EXACT [DOID:0110441, MONDO:Lexical, OMIM:614672]
synonym: "dilated cardiomyopathy type 2B" EXACT [DOID:0110441, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in GATAD1" EXACT [MONDO:design_pattern]
synonym: "GATAD1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110441 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110441"}
xref: OMIM:614672 {source="MONDO:equivalentTo", source="DOID:0110441"}
xref: UMLS:C3553409 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614672"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110441
property_value: exactMatch http://identifiers.org/omim/614672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553409

[Term]
id: MONDO:0013849
name: microcephaly 8, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CEP135" EXACT [MONDO:design_pattern]
synonym: "CEP135 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH8" RELATED [MONDO:Lexical, OMIM:614673]
synonym: "microcephaly 8, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614673]
synonym: "microcephaly 8, primary, autosomal recessive; MCPH8" RELATED [OMIM:614673]
xref: DOID:0070282 {source="MONDO:equivalentTo"}
xref: OMIM:614673 {source="MONDO:equivalentTo"}
xref: UMLS:C3553414 {source="OMIM:614673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:614673", source="MONDO:Redundant", source="OMIM:614673"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070282
property_value: exactMatch http://identifiers.org/omim/614673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553414

[Term]
id: MONDO:0013850
name: periodic fever, menstrual cycle-dependent
synonym: "periodic fever, menstrual cycle-dependent" EXACT [OMIM:614674]
xref: OMIM:614674 {source="MONDO:equivalentTo"}
xref: UMLS:C3553418 {source="OMIM:614674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553418

[Term]
id: MONDO:0013851
name: autosomal dominant aplasia and myelodysplasia
subset: ordo_disease {source="Orphanet:314399"}
synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399]
synonym: "BMFS1" RELATED [MONDO:Lexical, OMIM:614675]
synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675]
synonym: "bone marrow failure syndrome 1; BMFS1" RELATED [OMIM:614675]
synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675]
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="ORDO:314399/attributed", source="ORDO:314399/ntbt", source="Orphanet:314399"}
xref: OMIM:614675 {source="MONDO:equivalentTo", source="Orphanet:314399", source="ORDO:314399/e"}
xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"}
xref: UMLS:C3808553 {source="OMIM:614675", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN203751 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000159 {source="DC-OMIM:614675", source="OMIM:614675"} ! bone marrow failure syndrome
is_a: MONDO:0001713 {source="Orphanet:314399"} ! inherited aplastic anemia
property_value: exactMatch http://identifiers.org/omim/614675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203751
property_value: exactMatch Orphanet:314399

[Term]
id: MONDO:0013852
name: hypertrophic cardiomyopathy 21
def: "A hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation." [DOID:0110311, PMID:16651466]
synonym: "cardiomyopathy familial hypertrophic 21" EXACT [DOID:0110311]
synonym: "cardiomyopathy, familial hypertrophic, 21" RELATED [MONDO:Lexical, OMIM:614676]
synonym: "cardiomyopathy, familial hypertrophic, 21; CMH21" RELATED [OMIM:614676]
synonym: "CMH21" EXACT [DOID:0110311, MONDO:Lexical, OMIM:614676]
synonym: "hypertrophic cardiomyopathy type 21" EXACT [DOID:0110311, MONDORULE:2]
xref: DOID:0110311 {source="MONDO:equivalentTo"}
xref: OMIM:614676 {source="MONDO:equivalentTo", source="DOID:0110311"}
xref: UMLS:C3553442 {source="OMIM:614676", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0013852", source="OMIM", source="OMIM:614676"} ! familial hypertrophic cardiomyopathy
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110311
property_value: exactMatch http://identifiers.org/omim/614676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553442

[Term]
id: MONDO:0013853
name: pontocerebellar hypoplasia type 1B
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EXOSC3 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3" EXACT [MONDO:design_pattern]
synonym: "PCH1B" RELATED [MONDO:Lexical, OMIM:614678]
synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical, OMIM:614678]
synonym: "pontocerebellar hypoplasia, type 1B; PCH1B" RELATED [OMIM:614678]
xref: DOID:0060266 {source="MONDO:equivalentTo"}
xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"}
xref: UMLS:C3553449 {source="OMIM:614678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016396 {source="MONDOLEX:0013853", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1
property_value: exactMatch DOID:0060266
property_value: exactMatch http://identifiers.org/omim/614678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553449

[Term]
id: MONDO:0013854
name: primary ciliary dyskinesia 17
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC103 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD17" EXACT [DOID:0110621, MONDO:Lexical, OMIM:614679]
synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical, OMIM:614679]
synonym: "ciliary dyskinesia, primary, 17, with or without situs inversus" RELATED [OMIM:614679]
synonym: "ciliary dyskinesia, primary, 17; CILD17" RELATED [OMIM:614679]
synonym: "ciliary dyskinesia, primary, type 17" EXACT [MONDORULE:2, OMIM:614679]
synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [DOID:0110621]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC103" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 17" EXACT [DOID:0110621, MONDORULE:2]
xref: DOID:0110621 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110621"}
xref: OMIM:614679 {source="DOID:0110621", source="MONDO:equivalentTo"}
xref: UMLS:C3542550 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614679"}
is_a: MONDO:0016575 {source="DC-OMIM:614679", source="DOID:0110621", source="MONDO:Redundant", source="MONDOLEX:0013854", source="OMIM:614679"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110621
property_value: exactMatch http://identifiers.org/omim/614679
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542550

[Term]
id: MONDO:0013855
name: influenza, severe, susceptibility to
subset: predisposition
synonym: "influenza, severe, susceptibility to" EXACT [OMIM:614680]
synonym: "susceptibility to severe influenza" RELATED [OMIM:614680]
xref: OMIM:614680 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
relationship: predisposes_towards MONDO:0005812 ! influenza
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553462
property_value: exactMatch http://identifiers.org/omim/614680

[Term]
id: MONDO:0013856
name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" EXACT [OMIM:614684]
xref: OMIM:614684 {source="MONDO:equivalentTo"}
xref: UMLS:C3553465 {source="OMIM:614684", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614684
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553465

[Term]
id: MONDO:0013857
name: alar cleft, isolated
synonym: "alar cleft, isolated" EXACT [OMIM:614687]
xref: OMIM:614687 {source="MONDO:equivalentTo"}
xref: UMLS:C3553476 {source="OMIM:614687", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553476

[Term]
id: MONDO:0013858
name: pontine tegmental cap dysplasia
def: "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay , cranial nerve dysfunction, and malformation of the hindbrain .Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment , ataxia ,language and speech disorders , feeding and swallowingdifficulties, heartmalformations and facial paralysis .The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation ." [https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia]
subset: gard_rare {source="GARD:0010919"}
subset: ordo_morphological_anomaly {source="Orphanet:269229"}
synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688]
synonym: "PONTINE tegmental CAP dysplasia; PTCD" RELATED [OMIM:614688]
synonym: "PTCD" EXACT [MONDO:Lexical, OMIM:614688, Orphanet:269229]
xref: GARD:0010919 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="ORDO:269229/ntbt", source="Orphanet:269229"}
xref: OMIM:614688 {source="ORDO:269229/e", source="MONDO:equivalentTo", source="Orphanet:269229"}
xref: Orphanet:269229 {source="OMIM:614688", source="MONDO:equivalentTo"}
xref: UMLS:C3541340 {source="NCBI:mim2gene_medline", source="OMIM:614688", source="MONDO:equivalentTo"}
is_a: MONDO:0020133 {source="Orphanet:269229"} ! posterior fossa malformation
property_value: exactMatch http://identifiers.org/omim/614688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541340
property_value: exactMatch Orphanet:269229
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia xsd:anyURI {source="GARD:0010919"}

[Term]
id: MONDO:0013859
name: cataract 38
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGK early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 5" EXACT [DOID:0110245]
synonym: "cataract 38" EXACT [MONDO:Lexical, OMIM:614691]
synonym: "cataract 38; CTRCT38" RELATED [OMIM:614691]
synonym: "cataract type 38" EXACT [DOID:0110245, MONDORULE:2, OMIM:614691]
synonym: "cataract, autosomal recessive congenital 5" RELATED [OMIM:614691]
synonym: "CATC5" EXACT [DOID:0110245]
synonym: "CTRCT38" EXACT [DOID:0110245, MONDO:Lexical, OMIM:614691]
synonym: "early-onset non-syndromic cataract caused by mutation in AGK" EXACT [MONDO:design_pattern]
xref: DOID:0110245 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110245"}
xref: OMIM:614691 {source="MONDO:equivalentTo", source="DOID:0110245"}
xref: UMLS:C3553494 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614691"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110245
property_value: exactMatch http://identifiers.org/omim/614691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553494

[Term]
id: MONDO:0013860
name: idiopathic membranous glomerulonephritis
def: "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." [Orphanet:97560]
subset: ordo_disease {source="Orphanet:97560"}
synonym: "Extramembranous glomerulonephritis" RELATED [GARD:0009180]
synonym: "glomerulonephritis, membranous" RELATED [GARD:0009180]
synonym: "Idiopathic membranous glomerulopathy" EXACT [NCIT:C123060]
synonym: "idiopathic membranous nephropathy" RELATED [GARD:0009180]
synonym: "MBNP" RELATED [MONDO:Lexical, OMIM:614692]
synonym: "membranous GN" RELATED [GARD:0009180]
synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060]
synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692]
synonym: "membranous nephropathy, susceptibility to; MBNP" RELATED [OMIM:614692]
synonym: "MGN" RELATED [GARD:0009180]
xref: GARD:0009180 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:N04.2 {source="ORDO:97560/ntbt", source="Orphanet:97560"}
xref: NCIT:C123060 {source="MONDO:equivalentTo"}
xref: OMIM:614692 {source="MONDO:equivalentTo", source="ORDO:97560/e", source="Orphanet:97560"}
xref: Orphanet:97560 {source="MONDO:equivalentTo", source="OMIM:614692"}
xref: SCTID:722119002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0086445 {source="MONDO:equivalentTo", source="Orphanet:97560"}
is_a: MONDO:0005376 {source="MONDOLEX:0013860", source="NCIT:C123060", source="linkedlifedata"} ! membranous glomerulonephritis
is_a: MONDO:0015163 {source="Orphanet:97560"} ! primary glomerular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553496
property_value: exactMatch http://identifiers.org/omim/614692
property_value: exactMatch http://identifiers.org/snomedct/722119002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086445
property_value: exactMatch NCIT:C123060
property_value: exactMatch Orphanet:97560

[Term]
id: MONDO:0013861
name: amyotrophic lateral sclerosis type 17
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS17" EXACT [DOID:0060208, MONDO:Lexical, OMIM:614696]
synonym: "amyotrophic lateral sclerosis 17" EXACT [DOID:0060208, MONDO:Lexical, OMIM:614696]
synonym: "amyotrophic lateral sclerosis 17; ALS17" RELATED [OMIM:614696]
synonym: "amyotrophic lateral sclerosis caused by mutation in CHMP2B" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 17" EXACT [MONDORULE:2, OMIM:614696]
synonym: "amyotrophic lateral sclerosis, Chmp2B-related" RELATED [OMIM:614696]
synonym: "CHMP2B amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [DOID:0060208, OMIM:614696]
xref: DOID:0060208 {source="MONDO:equivalentTo"}
xref: MESH:C563708 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614696 {source="MONDO:equivalentTo", source="DOID:0060208"}
xref: UMLS:C1836076 {source="OMIM:614696", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060208
property_value: exactMatch http://identifiers.org/mesh/C563708
property_value: exactMatch http://identifiers.org/omim/614696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836076

[Term]
id: MONDO:0013862
name: immunodeficiency, common variable, 7
synonym: "CVID7" RELATED [MONDO:Lexical, OMIM:614699]
synonym: "immunodeficiency, common variable, 7" EXACT [MONDO:Lexical, OMIM:614699]
synonym: "immunodeficiency, common variable, 7; CVID7" RELATED [OMIM:614699]
synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1, OMIM:614699]
xref: OMIM:614699 {source="MONDO:equivalentTo"}
xref: UMLS:C3542922 {source="NCBI:mim2gene_medline", source="OMIM:614699", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:614699", source="MONDOLEX:0013862", source="OMIM:614699"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/614699
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542922

[Term]
id: MONDO:0013863
name: combined immunodeficiency due to LRBA deficiency
subset: ordo_disease {source="Orphanet:445018"}
synonym: "Cid due to LRBA deficiency" EXACT [Orphanet:445018]
synonym: "CVID8" RELATED [MONDO:Lexical, OMIM:614700]
synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700]
synonym: "immunodeficiency, common variable, 8, with autoimmunity; CVID8" RELATED [OMIM:614700]
xref: ICD10:D81.8 {source="Orphanet:445018", source="ORDO:445018/attributed", source="ORDO:445018/ntbt"}
xref: OMIM:614700 {source="ORDO:445018/e", source="Orphanet:445018", source="MONDO:equivalentTo"}
xref: Orphanet:445018 {source="MONDO:equivalentTo"}
xref: UMLS:C3553512 {source="OMIM:614700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:614700", source="MONDOLEX:0013863", source="OMIM:614700"} ! common variable immunodeficiency
is_a: MONDO:0017278 ! autoimmune polyendocrinopathy
is_a: MONDO:0018814 {source="Orphanet:445018"} ! non-severe combined immunodeficiency
is_a: MONDO:0019126 {source="Orphanet:445018"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:445018"} ! autoimmune enteropathy
property_value: exactMatch http://identifiers.org/omim/614700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553512
property_value: exactMatch Orphanet:445018

[Term]
id: MONDO:0013864
name: Cornelia de Lange syndrome 4
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDLS4" RELATED [MONDO:Lexical, OMIM:614701]
synonym: "Cornelia de Lange syndrome 4" EXACT [MONDO:Lexical, OMIM:614701]
synonym: "Cornelia DE Lange syndrome 4; CDLS4" RELATED [OMIM:614701]
synonym: "Cornelia de Lange syndrome caused by mutation in RAD21" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1, OMIM:614701]
synonym: "RAD21 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614701 {source="MONDO:equivalentTo"}
xref: UMLS:C3553517 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614701"}
is_a: MONDO:0016033 {source="DC-OMIM:614701", source="MONDO:Redundant", source="OMIM:614701"} ! Cornelia de Lange syndrome
property_value: exactMatch http://identifiers.org/omim/614701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553517

[Term]
id: MONDO:0013865
name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
def: "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." [Orphanet:314637]
subset: ordo_disease {source="Orphanet:314637"}
synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [OMIM:614702]
synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637]
synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical, OMIM:614702]
synonym: "combined oxidative phosphorylation deficiency 10; COXPD10" RELATED [OMIM:614702]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTO1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2, OMIM:614702]
synonym: "COXPD10" EXACT [MONDO:Lexical, OMIM:614702, Orphanet:314637]
synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:I42.2 {source="ORDO:314637/attributed", source="ORDO:314637/ntbt", source="Orphanet:314637"}
xref: OMIM:614702 {source="ORDO:314637/e", source="MONDO:equivalentTo", source="Orphanet:314637"}
xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"}
xref: UMLS:C3553529 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614702"}
is_a: MONDO:0000732 {source="DC-OMIM:614702", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016327 {source="Orphanet:314637"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018157 {source="Orphanet:314637"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553529
property_value: exactMatch Orphanet:314637

[Term]
id: MONDO:0013866
name: neuronal ceroid lipofuscinosis 11
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:314629"}
synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical, OMIM:614706]
synonym: "ceroid lipofuscinosis, neuronal, 11; CLN11" RELATED [OMIM:614706]
synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706]
synonym: "CLN11" EXACT [DOID:0110732, MONDO:Lexical, OMIM:614706]
synonym: "CLN11 disease" RELATED [Orphanet:314629]
synonym: "GRN neuronal ceroid lipofuscinosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Grn neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT []
synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2]
xref: DOID:0110732 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="DOID:0110732", source="MONDO:subClassOf", source="ORDO:314629/attributed", source="ORDO:314629/ntbt", source="Orphanet:314629"}
xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="ORDO:314629/e"}
xref: Orphanet:314629 {source="DOID:0110732", source="MONDO:equivalentTo", source="OMIM:614706"}
xref: UMLS:C3539123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614706"}
is_a: MONDO:0019260 {source="Orphanet:314629"} ! adult neuronal ceroid lipofuscinosis
property_value: exactMatch DOID:0110732
property_value: exactMatch http://identifiers.org/omim/614706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539123
property_value: exactMatch Orphanet:314629

[Term]
id: MONDO:0013867
name: brown-Vialetto-van Laere syndrome 2
def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0012861"}
synonym: "brown-Vialetto-van Laere syndrome 2" EXACT [MONDO:Lexical, OMIM:614707]
synonym: "BROWN-Vialetto-VAN Laere syndrome 2; BVVLS2" RELATED [OMIM:614707]
synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" EXACT [MONDO:design_pattern]
synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1, OMIM:614707]
synonym: "BVVLS2" RELATED [MONDO:Lexical, OMIM:614707]
synonym: "SLC52A2 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0012861 {source="MONDO:equivalentTo"}
xref: HGNC:30224 {source="GARD:0012861"}
xref: OMIM:614707 {source="MONDO:equivalentTo"}
xref: UMLS:C3553538 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614707"}
is_a: MONDO:0008891 {source="ORDO:97229/btnt", source="indirect"} ! riboflavin transporter deficiency
property_value: exactMatch http://identifiers.org/omim/614707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553538
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 xsd:anyURI {source="GARD:0012861"}

[Term]
id: MONDO:0013868
name: POROK7
synonym: "POROK7" EXACT [MONDO:Lexical, OMIM:614714]
synonym: "porokeratosis 7, disseminated superficial actinic type" RELATED [MONDO:Lexical, OMIM:614714]
synonym: "porokeratosis 7, disseminated superficial actinic type; POROK7" RELATED [OMIM:614714]
synonym: "porokeratosis 7, multiple types" RELATED [OMIM:614714]
synonym: "porokeratosis 7, multiple types; POROK7" RELATED [OMIM:614714]
xref: OMIM:614714 {source="MONDO:equivalentTo"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553549
property_value: exactMatch http://identifiers.org/omim/614714

[Term]
id: MONDO:0013869
name: adenine phosphoribosyltransferase deficiency
def: "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." [Orphanet:976]
subset: gard_rare
subset: ordo_disease {source="Orphanet:976"}
synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [DOID:0060350, Orphanet:976]
synonym: "2,8-dihydroxyadeninuria disease" EXACT [MONDO:cjm, PMID:23064195]
synonym: "adenine phosphoribosyltransferase deficiency" EXACT [MONDO:Lexical, OMIM:614723]
synonym: "adenine phosphoribosyltransferase deficiency; APRTD" RELATED [OMIM:614723]
synonym: "APRT deficiency" EXACT [DOID:0060350, GARD:0010666, OMIM:614723, Orphanet:976]
synonym: "APRTD" RELATED [MONDO:Lexical, OMIM:614723]
synonym: "Dihydroxyadeninuria" RELATED [GARD:0010666]
synonym: "nephrolithiasis, Dha" RELATED [OMIM:614723]
synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [OMIM:614723]
synonym: "urolithiasis, Dha" RELATED [OMIM:614723]
xref: DOID:0060350 {source="MONDO:equivalentTo"}
xref: GARD:0000546 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0010666 {source="MONDO:equivalentTo"}
xref: ICD10:E79.8 {source="Orphanet:976", source="ORDO:976/attributed", source="ORDO:976/ntbt"}
xref: MESH:C538228 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060350"}
xref: NCIT:C121564 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060350"}
xref: OMIM:614723 {source="ORDO:976/e", source="Orphanet:976", source="MONDO:equivalentTo", source="DOID:0060350"}
xref: Orphanet:976 {source="MONDO:equivalentTo", source="OMIM:614723"}
xref: SCTID:124274002 {source="MONDO:equivalentTo", source="DOID:0060350"}
xref: UMLS:C0268120 {source="NCBI:mim2gene_medline", source="Orphanet:976", source="MONDO:equivalentTo", source="GARD:0010666", source="NCIT:C121564", source="DOID:0060350"}
is_a: MONDO:0004736 {source="DOID:0060350"} ! inherited amino acid metabolic disorder
is_a: MONDO:0019236 {source="Orphanet:976"} ! inborn disorder of purine metabolism
is_a: MONDO:0019743 {source="Orphanet:976"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/11852004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665382
property_value: exactMatch DOID:0060350
property_value: exactMatch http://identifiers.org/mesh/C538228
property_value: exactMatch http://identifiers.org/omim/614723
property_value: exactMatch http://identifiers.org/snomedct/124274002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268120
property_value: exactMatch NCIT:C121564
property_value: exactMatch Orphanet:976
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria xsd:anyURI {source="GARD:0010666"}

[Term]
id: MONDO:0013870
name: TMEM165-CDG
def: "(4q12)." [Orphanet:314667]
subset: ordo_disease {source="Orphanet:314667"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [Orphanet:314667]
synonym: "CDG IIk" RELATED [OMIM:614727]
synonym: "CDG syndrome type IIk" EXACT [Orphanet:314667]
synonym: "CDG-IIk" EXACT [Orphanet:314667]
synonym: "CDG2K" EXACT [MONDO:Lexical, OMIM:614727, Orphanet:314667]
synonym: "congenital disorder of glycosylation type 2k" EXACT [Orphanet:314667]
synonym: "congenital disorder of glycosylation type IIk" EXACT [Orphanet:314667]
synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical, OMIM:614727]
synonym: "congenital disorder of glycosylation, type IIk; CDG2K" RELATED [OMIM:614727]
synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413]
xref: DOID:0070263 {source="MONDO:equivalentTo"}
xref: GARD:0012413 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="Orphanet:314667", source="ORDO:314667/attributed", source="ORDO:314667/ntbt"}
xref: OMIM:614727 {source="Orphanet:314667", source="ORDO:314667/e", source="MONDO:equivalentTo"}
xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"}
xref: SCTID:732252005 {source="MONDO:equivalentTo"}
xref: UMLS:C3553571 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614727"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005501 {source="DC-OMIM:614727", source="MONDOLEX:0013870", source="OMIM:614727"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017740 {source="Orphanet:314667"} ! disorder of protein N-glycosylation
is_a: MONDO:0018284 {source="Orphanet:314667"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018288 {source="Orphanet:314667"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018292 {source="Orphanet:314667"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019704 {source="Orphanet:314667"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch DOID:0070263
property_value: exactMatch http://identifiers.org/omim/614727
property_value: exactMatch http://identifiers.org/snomedct/732252005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553571
property_value: exactMatch Orphanet:314667

[Term]
id: MONDO:0013871
name: Seckel syndrome 6
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP63 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL6" EXACT [DOID:0070006, MONDO:Lexical, OMIM:614728]
synonym: "Seckel syndrome 6" EXACT [MONDO:Lexical, OMIM:614728]
synonym: "Seckel syndrome 6; SCKL6" RELATED [OMIM:614728]
synonym: "Seckel syndrome caused by mutation in CEP63" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 6" EXACT [MONDORULE:1, OMIM:614728]
xref: DOID:0070006 {source="MONDO:equivalentTo"}
xref: OMIM:614728 {source="MONDO:equivalentTo", source="DOID:0070006"}
xref: UMLS:C3553582 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614728"}
is_a: MONDO:0019342 {source="DC-OMIM:614728", source="DOID:0070006", source="MONDO:Redundant", source="MONDOLEX:0013871", source="OMIM:614728"} ! Seckel syndrome
property_value: exactMatch DOID:0070006
property_value: exactMatch http://identifiers.org/omim/614728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553582

[Term]
id: MONDO:0013872
name: prostate cancer, hereditary, 2
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ELAC2 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in ELAC2" EXACT [MONDO:design_pattern]
synonym: "HPC2" RELATED [MONDO:Lexical, OMIM:614731]
synonym: "prostate cancer, hereditary, 2" EXACT [MONDO:Lexical, OMIM:614731]
synonym: "prostate cancer, hereditary, 2; HPC2" RELATED [OMIM:614731]
synonym: "prostate cancer, hereditary, type 2" EXACT [MONDORULE:1, OMIM:614731]
xref: OMIM:614731 {source="MONDO:equivalentTo"}
xref: UMLS:C3539120 {source="OMIM:614731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0023122 {source="MONDO:Redundant", source="MONDOLEX:0013872"} ! familial prostate carcinoma
property_value: exactMatch http://identifiers.org/omim/614731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539120

[Term]
id: MONDO:0013873
name: IMAGe syndrome
def: "IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." [Orphanet:85173]
subset: gard_rare {source="GARD:0012312"}
subset: ordo_malformation_syndrome {source="Orphanet:85173"}
synonym: "IMAGe syndrome" EXACT [OMIM:614732]
synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [DOID:0050885]
synonym: "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies" RELATED [GARD:0012312]
synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [OMIM:614732]
synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173]
xref: DOID:0050885 {source="MONDO:equivalentTo"}
xref: GARD:0012312 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:85173/attributed", source="ORDO:85173/ntbt", source="Orphanet:85173"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C130988 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIM:614732 {source="DOID:0050885", source="MONDO:equivalentTo", source="ORDO:85173/e", source="Orphanet:85173"}
xref: Orphanet:85173 {source="OMIM:614732", source="MONDO:equivalentTo"}
xref: SCTID:702384004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.37"}
xref: UMLS:C1846009 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C130988", source="NCBI:mim2gene_medline", source="OMIM:614732", source="MONDO:equivalentTo", source="Orphanet:85173"}
is_a: MONDO:0015129 {source="Orphanet:85173", source="Orphanet:85173/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015620 {source="Orphanet:85173"} ! syndromic urogenital tract malformation
is_a: MONDO:0019699 {source="Orphanet:85173"} ! slender bone dysplasia
property_value: exactMatch DOID:0050885
property_value: exactMatch http://identifiers.org/omim/614732
property_value: exactMatch http://identifiers.org/snomedct/702384004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846009
property_value: exactMatch NCIT:C130988
property_value: exactMatch Orphanet:85173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12312/image-syndrome xsd:anyURI {source="GARD:0012312"}

[Term]
id: MONDO:0013874
name: glucocorticoid deficiency 4
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial glucocorticoid deficiency caused by mutation in NNT" EXACT [MONDO:design_pattern]
synonym: "GCCD4" RELATED [MONDO:Lexical, OMIM:614736]
synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical, OMIM:614736]
synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" RELATED [OMIM:614736]
synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency; GCCD4" RELATED [OMIM:614736]
synonym: "glucocorticoid deficiency 4; GCCD4" RELATED [OMIM:614736]
synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1, OMIM:614736]
synonym: "NNT familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614736 {source="MONDO:equivalentTo"}
xref: UMLS:C3553587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614736"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:614736", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency
property_value: exactMatch http://identifiers.org/omim/614736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553587

[Term]
id: MONDO:0013875
name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Present because it is in the OMIM series. {source="OMIM:614739"}
subset: gard_rare
subset: ordo_disease {source="Orphanet:352328"}
synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001]
synonym: "3-methylglutaconic aciduria type VI" RELATED [GARD:0012963]
synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT [MONDO:Lexical, OMIM:614739]
synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDEL" RELATED [OMIM:614739]
synonym: "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" EXACT [Orphanet:352328]
synonym: "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" RELATED [OMIM:614739]
synonym: "3-Methylglutaconic aciduria, type 6" RELATED [OMIM:614739]
synonym: "3-MGCA type IV (formerly)" RELATED [GARD:0012963]
synonym: "3-MGCA-4 (formerly)" RELATED [GARD:0012963]
synonym: "MEGDEL" EXACT [DOID:0110001, MONDO:Lexical, OMIM:614739]
synonym: "MEGDEL syndrome" EXACT [DOID:0110001]
synonym: "MGCA6" EXACT [DOID:0110001]
synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SERAC1 defect" RELATED [GARD:0012963]
xref: DOID:0110001 {source="MONDO:equivalentTo"}
xref: GARD:0012963 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:352328/attributed", source="ORDO:352328/ntbt", source="Orphanet:352328", source="DOID:0110001"}
xref: OMIM:614739 {source="MONDO:equivalentTo", source="Orphanet:352328", source="ORDO:352328/e", source="DOID:0110001"}
xref: Orphanet:352328 {source="MONDO:equivalentTo", source="OMIM:614739", source="DOID:0110001"}
xref: SCTID:711409002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.84"}
xref: UMLS:C3553597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614739"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017359 {source="DC-OMIM:614739", source="DOID:0110001", source="MONDO:Redundant", source="OMIM:614739", source="Orphanet:352328", source="linkedlifedata", source="linkedlifedata/inferred"} ! 3-methylglutaconic aciduria
is_a: MONDO:0017718 {source="Orphanet:352328"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
is_a: MONDO:0018118 {source="Orphanet:352328"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019058 {source="Orphanet:352328"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019589 {source="Orphanet:352328"} ! syndromic genetic deafness
property_value: exactMatch DOID:0110001
property_value: exactMatch http://identifiers.org/omim/614739
property_value: exactMatch http://identifiers.org/snomedct/711409002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553597
property_value: exactMatch Orphanet:352328

[Term]
id: MONDO:0013876
name: basal cell carcinoma, susceptibility to, 7
def: "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:614740]
synonym: "basal cell carcinoma, susceptibility to, 7; BCC7" RELATED [OMIM:614740]
synonym: "basal cell carcinoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:614740]
synonym: "BCC7" RELATED [MONDO:Lexical, OMIM:614740]
synonym: "skin basal cell carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "susceptibility to basal cell carcinoma 7" RELATED [OMIM:614740]
synonym: "TP53 skin basal cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614740 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005341 ! skin basal cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553606
property_value: exactMatch http://identifiers.org/omim/614740

[Term]
id: MONDO:0013877
name: mitochondrial pyruvate carrier deficiency
def: "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." [PMID:22628558]
subset: ordo_disease {source="Orphanet:447784"}
synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741]
synonym: "mitochondrial pyruvate carrier deficiency; MPYCD" RELATED [OMIM:614741]
synonym: "MPYCD" RELATED [MONDO:Lexical, OMIM:614741]
xref: ICD10:E74.4 {source="ORDO:447784/attributed", source="ORDO:447784/ntbt", source="Orphanet:447784"}
xref: OMIM:614741 {source="MONDO:equivalentTo", source="ORDO:447784/e", source="Orphanet:447784"}
xref: Orphanet:447784 {source="MONDO:equivalentTo"}
xref: UMLS:C3553607 {source="OMIM:614741", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016789 {source="Orphanet:447784"} ! pyruvate metabolism disorder
is_a: MONDO:0019058 {source="Orphanet:447784"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/omim/614741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553607
property_value: exactMatch Orphanet:447784

[Term]
id: MONDO:0013878
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PFBMFT1" RELATED [MONDO:Lexical, OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical, OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1; PFBMFT1" RELATED [OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" EXACT [MONDORULE:1, OMIM:614742]
synonym: "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:1001501 {source="MONDO:equivalentTo"}
xref: OMIM:614742 {source="MONDO:equivalentTo"}
xref: UMLS:C3553617 {source="OMIM:614742", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000148 {source="DC-OMIM:614742", source="MONDO:Redundant", source="MONDOLEX:0013878", source="OMIM:614742"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0008345 ! idiopathic pulmonary fibrosis
property_value: exactMatch http://identifiers.org/omim/614742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553617

[Term]
id: MONDO:0013879
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
synonym: "PFBMFT2" RELATED [MONDO:Lexical, OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" EXACT [MONDO:Lexical, OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2; PFBMFT2" RELATED [OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2" EXACT [MONDORULE:1, OMIM:614743]
xref: OMIM:614743 {source="MONDO:equivalentTo"}
xref: UMLS:C3553622 {source="NCBI:mim2gene_medline", source="OMIM:614743", source="MONDO:equivalentTo"}
is_a: MONDO:0000148 {source="DC-OMIM:614743", source="MONDO:Redundant", source="MONDOLEX:0013879", source="OMIM:614743"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
property_value: exactMatch http://identifiers.org/omim/614743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553622

[Term]
id: MONDO:0013880
name: facial paresis, hereditary congenital, 3
def: "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" EXACT [MONDO:design_pattern]
synonym: "facial paresis, hereditary congenital, 3" EXACT [MONDO:Lexical, OMIM:614744]
synonym: "facial paresis, hereditary congenital, 3; HCFP3" RELATED [OMIM:614744]
synonym: "facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1, OMIM:614744]
synonym: "HCFP3" RELATED [MONDO:Lexical, OMIM:614744]
synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614744 {source="MONDO:equivalentTo"}
xref: UMLS:C3553625 {source="OMIM:614744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017627 {source="MONDO:Redundant", source="ORDO:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome
property_value: exactMatch http://identifiers.org/omim/614744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553625

[Term]
id: MONDO:0013881
name: congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome
def: "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." [Orphanet:306504]
subset: ordo_disease {source="Orphanet:306504"}
synonym: "congenital ILNEB syndrome" EXACT [Orphanet:306504]
synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [Orphanet:306504]
synonym: "congenital NEP syndrome" EXACT [Orphanet:306504]
synonym: "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" EXACT [Orphanet:306504]
synonym: "ILNEB" RELATED [MONDO:Lexical, OMIM:614748]
synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" RELATED [MONDO:Lexical, OMIM:614748]
synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; ILNEB" RELATED [OMIM:614748]
synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504]
synonym: "JEB-RR" EXACT [Orphanet:306504]
synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504]
xref: OMIM:614748 {source="ORDO:306504/e", source="Orphanet:306504", source="MONDO:equivalentTo"}
xref: Orphanet:306504 {source="MONDO:equivalentTo", source="OMIM:614748"}
xref: UMLS:C3553636 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614748"}
is_a: MONDO:0017016 {source="Orphanet:306504"} ! primary interstitial lung disease specific to childhood due to alveolar structure disorder
is_a: MONDO:0017612 {source="MONDOLEX:0013881", source="Orphanet:306504"} ! junctional epidermolysis bullosa
is_a: MONDO:0019723 {source="Orphanet:306504"} ! disease of glomerular basement membrane
property_value: exactMatch http://identifiers.org/omim/614748
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553636
property_value: exactMatch Orphanet:306504

[Term]
id: MONDO:0013882
name: hyperphosphatasia with intellectual disability syndrome 2
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 6" RELATED [OMIM:614749]
synonym: "HPMRS2" RELATED [MONDO:Lexical, OMIM:614749]
synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT [MONDO:Lexical, OMIM:614749]
synonym: "hyperphosphatasia with mental retardation syndrome 2; HPMRS2" RELATED [OMIM:614749]
synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT [MONDORULE:1, OMIM:614749]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO" EXACT [MONDO:design_pattern]
synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614749 {source="MONDO:equivalentTo"}
xref: UMLS:C3553637 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614749"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614749", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/614749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553637

[Term]
id: MONDO:0013883
name: congenital myasthenic syndrome 13
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS13" EXACT [DOID:0110676, MONDO:Lexical, OMIM:614750]
synonym: "CMSTA2" EXACT [DOID:0110676]
synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [DOID:0110676]
synonym: "congenital myasthenic syndrome type 13" EXACT [DOID:0110676, MONDORULE:2]
synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [DOID:0110676]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1" EXACT [MONDO:design_pattern]
synonym: "DPAGT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 13" RELATED [MONDO:Lexical, OMIM:614750]
synonym: "myasthenic syndrome, congenital, 13; CMS13" RELATED [OMIM:614750]
synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2, OMIM:614750]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 2" RELATED [OMIM:614750]
xref: DOID:0110676 {source="MONDO:equivalentTo"}
xref: OMIM:614750 {source="DOID:0110676", source="MONDO:equivalentTo"}
xref: UMLS:C3553645 {source="OMIM:614750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000182 {source="DC-OMIM:614750", source="MONDOLEX:0013883", source="OMIM:614750"} ! congenital myasthenic syndrome with tubular aggregates
is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect
property_value: exactMatch DOID:0110676
property_value: exactMatch http://identifiers.org/omim/614750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553645

[Term]
id: MONDO:0013884
name: neuronopathy, distal hereditary motor, type 5B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "dHMN 5B" RELATED [OMIM:614751]
synonym: "HMN 5B" RELATED [OMIM:614751]
synonym: "HMN5B" RELATED [MONDO:Lexical, OMIM:614751]
synonym: "neuronopathy, distal hereditary motor caused by mutation in REEP1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VB" RELATED [MONDO:Lexical, OMIM:614751]
synonym: "neuronopathy, distal hereditary motor, type VB; HMN5B" RELATED [OMIM:614751]
synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [OMIM:614751]
synonym: "REEP1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinal muscular atrophy, distal, type 5B" RELATED [OMIM:614751]
xref: OMIM:614751 {source="MONDO:equivalentTo"}
xref: UMLS:C3553656 {source="OMIM:614751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:614751", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015353 {source="ORDO:139536/btnt"} ! distal hereditary motor neuropathy type 5
property_value: exactMatch http://identifiers.org/omim/614751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553656

[Term]
id: MONDO:0013885
name: Malan overgrowth syndrome
def: "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies." [Orphanet:420179]
subset: ordo_malformation_syndrome {source="Orphanet:420179"}
synonym: "Malan syndrome" RELATED [OMIM:614753]
synonym: "Sotos syndrome 2" EXACT [MONDO:Lexical, OMIM:614753, Orphanet:420179]
synonym: "Sotos syndrome 2; SOTOS2" RELATED [OMIM:614753]
synonym: "Sotos syndrome type 2" EXACT [MONDORULE:1, OMIM:614753]
synonym: "SOTOS2" RELATED [MONDO:Lexical, OMIM:614753]
xref: ICD10:Q87.3 {source="Orphanet:420179", source="ORDO:420179/attributed", source="ORDO:420179/ntbt"}
xref: OMIM:614753 {source="Orphanet:420179", source="ORDO:420179/e", source="MONDO:equivalentTo"}
xref: Orphanet:420179 {source="OMIM:614753", source="MONDO:equivalentTo"}
xref: SCTID:763795006 {source="MONDO:equivalentTo"}
xref: UMLS:C3553660 {source="OMIM:614753", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019349 {source="DC-OMIM:614753", source="OMIM:614753"} ! Sotos syndrome
property_value: exactMatch http://identifiers.org/omim/614753
property_value: exactMatch http://identifiers.org/snomedct/763795006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553660
property_value: exactMatch Orphanet:420179

[Term]
id: MONDO:0013886
name: nonprogressive cerebellar atxia with mental retardation
def: "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." [Orphanet:314647]
subset: ordo_disease {source="Orphanet:314647"}
synonym: "CANPMR" RELATED [MONDO:Lexical, OMIM:614756]
synonym: "cerebellar ataxia, nonprogressive, with mental retardation" RELATED [MONDO:Lexical, OMIM:614756]
synonym: "cerebellar ataxia, nonprogressive, with mental retardation; CANPMR" RELATED [OMIM:614756]
synonym: "non-progressive cerebellar ataxia with intellectual disability" RELATED [Orphanet:314647]
synonym: "nonprogressive cerebellar ataxia with mental retardation" RELATED [DOID:0050998]
xref: DOID:0050998 {source="MONDO:equivalentTo"}
xref: ICD10:G11.0 {source="Orphanet:314647", source="ORDO:314647/attributed", source="ORDO:314647/ntbt"}
xref: OMIM:614756 {source="Orphanet:314647", source="ORDO:314647/e", source="MONDO:equivalentTo", source="DOID:0050998"}
xref: Orphanet:314647 {source="MONDO:equivalentTo", source="OMIM:614756"}
xref: SCTID:723441001 {source="MONDO:equivalentTo"}
xref: UMLS:C3553661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614756"}
is_a: MONDO:0019792 {source="Orphanet:314647"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050998
property_value: exactMatch http://identifiers.org/omim/614756
property_value: exactMatch http://identifiers.org/snomedct/723441001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553661
property_value: exactMatch Orphanet:314647

[Term]
id: MONDO:0013887
name: heterotaxy, visceral, 6, autosomal
synonym: "heterotaxy, visceral, 6, autosomal" EXACT [MONDO:Lexical, OMIM:614779]
synonym: "heterotaxy, visceral, 6, autosomal; HTX6" RELATED [OMIM:614779]
synonym: "HTX6" RELATED [MONDO:Lexical, OMIM:614779]
xref: OMIM:614779 {source="MONDO:equivalentTo"}
xref: UMLS:C3553676 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614779"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:614779", source="MONDOLEX:0013887", source="OMIM:614779"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/omim/614779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553676

[Term]
id: MONDO:0013888
name: tremor, hereditary essential, 4
def: "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in FUS" EXACT [MONDO:design_pattern]
synonym: "ETM4" RELATED [MONDO:Lexical, OMIM:614782]
synonym: "FUS essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tremor, hereditary essential, 4" EXACT [MONDO:Lexical, OMIM:614782]
synonym: "tremor, hereditary essential, 4; ETM4" RELATED [OMIM:614782]
synonym: "tremor, hereditary essential, type 4" EXACT [MONDORULE:1, OMIM:614782]
xref: OMIM:614782 {source="MONDO:equivalentTo"}
xref: UMLS:C3539195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614782"}
is_a: MONDO:0003233 {source="DC-OMIM:614782", source="MONDO:Redundant", source="OMIM:614782"} ! essential tremor
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch Orphanet:862
property_value: exactMatch http://identifiers.org/omim/614782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539195

[Term]
id: MONDO:0013889
name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:391677"}
synonym: "short stature with optic atrophy and Pelger-Huët anomaly syndrome" RELATED [GARD:0010945]
synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical, OMIM:614800]
synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly; soph" RELATED [OMIM:614800]
synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Orphanet:391677]
synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800]
synonym: "soph syndrome" EXACT [Orphanet:391677]
xref: GARD:0010945 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:391677", source="ORDO:391677/attributed", source="ORDO:391677/ntbt"}
xref: OMIM:614800 {source="MONDO:equivalentTo", source="Orphanet:391677", source="ORDO:391677/e"}
xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"}
xref: UMLS:C3541319 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614800"}
is_a: MONDO:0015329 {source="Orphanet:391677"} ! malformation syndrome with short stature
is_a: MONDO:0018609 {source="Orphanet:391677"} ! syndromic hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/omim/614800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541319
property_value: exactMatch Orphanet:391677

[Term]
id: MONDO:0013890
name: congenital myopathy with internal nuclei and atypical cores
def: "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." [Orphanet:319160]
subset: ordo_disease {source="Orphanet:319160"}
synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160]
synonym: "CNM4" EXACT [MONDO:Lexical, OMIM:614807, Orphanet:319160]
synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807]
synonym: "myopathy, centronuclear, 4; CNM4" RELATED [OMIM:614807]
synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807]
xref: ICD10:G71.2 {source="Orphanet:319160", source="ORDO:319160/attributed", source="ORDO:319160/ntbt"}
xref: OMIM:614807 {source="ORDO:319160/e", source="Orphanet:319160", source="MONDO:equivalentTo"}
xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"}
xref: SCTID:764945007 {source="MONDO:equivalentTo"}
xref: UMLS:C3553709 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614807"}
is_a: MONDO:0015765 {source="Orphanet:319160"} ! congenital myopathy with cores
is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807"} ! centronuclear myopathy
property_value: exactMatch http://identifiers.org/omim/614807
property_value: exactMatch http://identifiers.org/snomedct/764945007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553709
property_value: exactMatch Orphanet:319160

[Term]
id: MONDO:0013891
name: amyotrophic lateral sclerosis type 18
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808]
synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808]
synonym: "amyotrophic lateral sclerosis 18; ALS18" RELATED [OMIM:614808]
synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 18" EXACT [MONDORULE:2, OMIM:614808]
synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060209 {source="MONDO:equivalentTo"}
xref: OMIM:614808 {source="MONDO:equivalentTo", source="DOID:0060209"}
xref: UMLS:C3553719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614808"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060209
property_value: exactMatch http://identifiers.org/omim/614808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553719

[Term]
id: MONDO:0013892
name: C3 glomerulonephritis
def: "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." [NCIT:P378]
subset: ordo_histopathological_subtype {source="Orphanet:329931"}
synonym: "CFHR5 deficiency" RELATED [OMIM:614809]
synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043]
xref: ICD10:N00.5 {source="ORDO:329931/attributed", source="ORDO:329931/ntbt", source="Orphanet:329931"}
xref: NCIT:C123043 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:614809 {source="MONDO:equivalentTo", source="Orphanet:329931", source="ORDO:329931/e"}
xref: Orphanet:329931 {source="MONDO:equivalentTo", source="OMIM:614809"}
xref: UMLS:C3553720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614809"}
xref: UMLS:C4055342 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C123043", source="MONDO:equivalentTo"}
xref: UMLS:CN187045 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018013 {source="Orphanet:329931"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis
property_value: exactMatch http://identifiers.org/omim/614809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4055342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN187045
property_value: exactMatch NCIT:C123043
property_value: exactMatch Orphanet:329931

[Term]
id: MONDO:0013893
name: multiple sclerosis, susceptibility to, 5
def: "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "MS5" RELATED [MONDO:Lexical, OMIM:614810]
synonym: "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" EXACT [MONDO:design_pattern]
synonym: "multiple sclerosis, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:614810]
synonym: "multiple sclerosis, susceptibility to, 5; MS5" RELATED [OMIM:614810]
synonym: "multiple sclerosis, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:614810]
synonym: "susceptibility to multiple sclerosis 5" RELATED [OMIM:614810]
synonym: "TNFRSF1A multiple sclerosis, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614810 {source="MONDO:equivalentTo"}
is_a: MONDO:0007462 {source="MONDO:Redundant", source="MONDOLEX:0013893", source="OMIM:614810"} ! multiple sclerosis, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553728
property_value: closeMatch Orphanet:802
property_value: exactMatch http://identifiers.org/omim/614810

[Term]
id: MONDO:0013894
name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
subset: ordo_disease {source="Orphanet:314394"}
synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813]
synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; soft" RELATED [OMIM:614813]
synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813]
synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394]
xref: ICD10:Q87.1 {source="ORDO:314394/attributed", source="ORDO:314394/ntbt", source="Orphanet:314394"}
xref: OMIM:614813 {source="MONDO:equivalentTo", source="ORDO:314394/e", source="Orphanet:314394"}
xref: Orphanet:314394 {source="MONDO:equivalentTo", source="OMIM:614813"}
xref: UMLS:C3542022 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614813"}
is_a: MONDO:0019699 {source="Orphanet:314394"} ! slender bone dysplasia
property_value: exactMatch http://identifiers.org/omim/614813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542022
property_value: exactMatch Orphanet:314394

[Term]
id: MONDO:0013895
name: Adams-Oliver syndrome 3
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Adams-Oliver syndrome 3" EXACT [MONDO:Lexical, OMIM:614814]
synonym: "Adams-Oliver syndrome 3; AOS3" RELATED [OMIM:614814]
synonym: "Adams-Oliver syndrome caused by mutation in RBPJ" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1, OMIM:614814]
synonym: "AOS3" RELATED [MONDO:Lexical, OMIM:614814]
synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614814 {source="MONDO:equivalentTo"}
xref: UMLS:C3553748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614814"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614814", source="ORDO:974/btnt"} ! Adams-Oliver syndrome
property_value: exactMatch http://identifiers.org/omim/614814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553748

[Term]
id: MONDO:0013896
name: Joubert syndrome 18
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS18" EXACT [DOID:0110987, MONDO:Lexical, OMIM:614815]
synonym: "Joubert syndrome 18" EXACT [MONDO:Lexical, OMIM:614815]
synonym: "Joubert syndrome 18; JBTS18" RELATED [OMIM:614815]
synonym: "Joubert syndrome caused by mutation in TCTN3" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 18" EXACT [DOID:0110987, MONDORULE:2, OMIM:614815]
synonym: "TCTN3 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110987 {source="MONDO:equivalentTo"}
xref: OMIM:614815 {source="DOID:0110987", source="MONDO:equivalentTo"}
xref: UMLS:C3553758 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614815"}
is_a: MONDO:0018772 {source="DOID:0110987", source="MONDO:Redundant", source="OMIM:614815", source="indirect"} ! Joubert syndrome
property_value: exactMatch DOID:0110987
property_value: exactMatch http://identifiers.org/omim/614815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553758

[Term]
id: MONDO:0013897
name: Loeys-Dietz syndrome 4
def: "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" RELATED [OMIM:614816]
synonym: "LDS4" RELATED [MONDO:Lexical, OMIM:614816]
synonym: "Loeys-Dietz syndrome 4" EXACT [MONDO:Lexical, OMIM:614816]
synonym: "Loeys-Dietz syndrome 4; LDS4" RELATED [OMIM:614816]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFB2" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1, OMIM:614816]
synonym: "TGFB2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070233 {source="MONDO:equivalentTo"}
xref: GARD:0010588 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:614816 {source="MONDO:equivalentTo"}
xref: UMLS:C3553762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614816"}
is_a: MONDO:0018954 {source="MONDO:Redundant", source="MONDOLEX:0013897", source="OMIM:614816"} ! Loeys-Dietz syndrome
property_value: exactMatch DOID:0070233
property_value: exactMatch http://identifiers.org/omim/614816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553762

[Term]
id: MONDO:0013898
name: karyomegalic interstitial nephritis
def: "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0011003"}
subset: ordo_disease {source="Orphanet:401996"}
synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern]
synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical, OMIM:614817]
synonym: "interstitial nephritis, karyomegalic; KMIN" RELATED [OMIM:614817]
synonym: "kin" EXACT [DOID:0060911, Orphanet:401996]
synonym: "KMIN" EXACT [DOID:0060911, MONDO:Lexical, OMIM:614817]
synonym: "systemic karyomegaly" EXACT [Orphanet:401996]
xref: DOID:0060911 {source="MONDO:equivalentTo"}
xref: GARD:0011003 {source="MONDO:equivalentTo"}
xref: ICD10:N11.8 {source="Orphanet:401996", source="ORDO:401996/attributed", source="ORDO:401996/ntbt", source="DOID:0060911"}
xref: OMIM:614817 {source="Orphanet:401996", source="ORDO:401996/e", source="MONDO:equivalentTo", source="DOID:0060911"}
xref: Orphanet:401996 {source="MONDO:equivalentTo", source="DOID:0060911", source="OMIM:614817"}
xref: UMLS:C3553774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614817"}
is_a: MONDO:0001085 {source="DOID:0060911", source="MONDO:Redundant", source="MONDOLEX:0013898"} ! interstitial nephritis
is_a: MONDO:0005334 ! hereditary nephritis
is_a: MONDO:0019741 {source="Orphanet:401996"} ! familial cystic renal disease
property_value: exactMatch DOID:0060911
property_value: exactMatch http://identifiers.org/omim/614817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553774
property_value: exactMatch Orphanet:401996
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis xsd:anyURI {source="GARD:0011003"}

[Term]
id: MONDO:0013899
name: Weill-Marchesani syndrome 3
def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LTBP2 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Weill-Marchesani syndrome 3" EXACT [MONDO:Lexical, OMIM:614819]
synonym: "Weill-Marchesani syndrome 3; WMS3" RELATED [OMIM:614819]
synonym: "Weill-Marchesani syndrome caused by mutation in LTBP2" EXACT [MONDO:design_pattern]
synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1, OMIM:614819]
synonym: "WMS3" RELATED [MONDO:Lexical, OMIM:614819]
xref: OMIM:614819 {source="MONDO:equivalentTo"}
xref: UMLS:C3553785 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614819"}
is_a: MONDO:0018096 {source="DC-OMIM:614819", source="MONDO:Redundant", source="OMIM:614819"} ! Weill-Marchesani syndrome
property_value: exactMatch http://identifiers.org/omim/614819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553785

[Term]
id: MONDO:0013900
name: alternating hemiplegia of childhood 2
def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AHC2" RELATED [MONDO:Lexical, OMIM:614820]
synonym: "alternating hemiplegia of childhood 2" EXACT [MONDO:Lexical, OMIM:614820]
synonym: "alternating hemiplegia of childhood 2; AHC2" RELATED [OMIM:614820]
synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A3" EXACT [MONDO:design_pattern]
synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1, OMIM:614820]
synonym: "ATP1A3 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614820 {source="MONDO:equivalentTo"}
xref: UMLS:C3553788 {source="NCBI:mim2gene_medline", source="OMIM:614820", source="MONDO:equivalentTo"}
is_a: MONDO:0016241 {source="DC-OMIM:614820", source="MONDO:Redundant", source="MONDOLEX:0013900", source="OMIM:614820"} ! alternating hemiplegia of childhood
property_value: exactMatch http://identifiers.org/omim/614820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553788

[Term]
id: MONDO:0013901
name: spermatogenic failure 10
def: "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in SEPT12" EXACT [MONDO:design_pattern]
synonym: "SEPT12 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 10" EXACT [MONDO:Lexical, OMIM:614822]
synonym: "spermatogenic failure 10; SPGF10" RELATED [OMIM:614822]
synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2, OMIM:614822]
synonym: "spermatogenic failure with defective sperm annulus" RELATED [OMIM:614822]
synonym: "SPGF10" RELATED [MONDO:Lexical, OMIM:614822]
xref: DOID:0070178 {source="MONDO:equivalentTo"}
xref: OMIM:614822 {source="MONDO:equivalentTo"}
xref: UMLS:C3553793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614822"}
is_a: MONDO:0004983 {source="DC-OMIM:614822", source="MONDO:Redundant", source="OMIM:614822"} ! azoospermia
is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder
property_value: exactMatch DOID:0070178
property_value: exactMatch http://identifiers.org/omim/614822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553793

[Term]
id: MONDO:0013902
name: aortic valve disease 2
def: "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "aortic valve disease 2" EXACT [MONDO:Lexical, OMIM:614823]
synonym: "aortic valve disease 2; AOVD2" RELATED [OMIM:614823]
synonym: "aortic valve disease caused by mutation in SMAD6" EXACT [MONDO:design_pattern]
synonym: "aortic valve disease type 2" EXACT [MONDORULE:1, OMIM:614823]
synonym: "aortic valve stenosis" RELATED [OMIM:614823]
synonym: "AOVD2" RELATED [MONDO:Lexical, OMIM:614823]
synonym: "bicuspid aortic valve" RELATED [OMIM:614823]
synonym: "SMAD6 aortic valve disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080334 {source="MONDO:equivalentTo"}
xref: OMIM:614823 {source="DOID:0080334", source="MONDO:equivalentTo"}
xref: UMLS:C3542024 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614823"}
is_a: MONDO:0007194 {source="ORDO:402075/btnt"} ! familial bicuspid aortic valve
property_value: exactMatch DOID:0080334
property_value: exactMatch http://identifiers.org/omim/614823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542024

[Term]
id: MONDO:0013903
name: NYS7
synonym: "NYS7" EXACT [MONDO:Lexical, OMIM:614826]
synonym: "NYSTAGMUS 7, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614826]
synonym: "NYSTAGMUS 7, congenital, autosomal dominant; NYS7" RELATED [OMIM:614826]
xref: OMIM:614826 {source="MONDO:equivalentTo"}
xref: UMLS:C3553801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614826"}
is_a: MONDO:0005712 {source="DC-OMIM:614826", source="OMIM:614826"} ! congenital nystagmus
property_value: closeMatch Orphanet:651
property_value: exactMatch http://identifiers.org/omim/614826
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553801

[Term]
id: MONDO:0013904
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA8" RELATED [MONDO:Lexical, OMIM:614830]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" EXACT [MONDO:Lexical, OMIM:614830]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; MDDGA8" RELATED [OMIM:614830]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" EXACT [MONDO:design_pattern]
synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [OMIM:614830]
xref: OMIM:614830 {source="MONDO:equivalentTo"}
xref: UMLS:C3553813 {source="OMIM:614830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/614830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553813

[Term]
id: MONDO:0013905
name: autosomal recessive spinocerebellar ataxia 13
def: "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." [Orphanet:324262]
subset: ordo_clinical_subtype {source="Orphanet:324262"}
synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" EXACT []
synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" EXACT [Orphanet:324262]
synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [Orphanet:324262]
synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [DOID:0080062, MONDORULE:2, Orphanet:324262]
synonym: "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR13" EXACT [MONDO:Lexical, OMIM:614831, Orphanet:324262]
synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831]
synonym: "spinocerebellar ataxia, autosomal recessive 13; SCAR13" RELATED [OMIM:614831]
synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831]
xref: DOID:0080062 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:324262/attributed", source="ORDO:324262/ntbt", source="Orphanet:324262"}
xref: OMIM:614831 {source="MONDO:equivalentTo", source="Orphanet:324262", source="ORDO:324262/e", source="DOID:0080062"}
xref: Orphanet:324262 {source="OMIM:614831", source="MONDO:equivalentTo"}
xref: UMLS:C3553816 {source="NCBI:mim2gene_medline", source="OMIM:614831", source="MONDO:equivalentTo"}
is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:324262"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
property_value: exactMatch DOID:0080062
property_value: exactMatch http://identifiers.org/omim/614831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553816
property_value: exactMatch Orphanet:324262

[Term]
id: MONDO:0013906
name: amelogenesis imperfecta hypomaturation type 2A4
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI2A4" EXACT [DOID:0110062, MONDO:Lexical, OMIM:614832]
synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062]
synonym: "amelogenesis imperfecta type IIA4" EXACT [DOID:0110062]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical, OMIM:614832]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA4; AI2A4" RELATED [OMIM:614832]
synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110062 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110062"}
xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"}
xref: UMLS:C3553830 {source="OMIM:614832", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015048 {source="MONDOLEX:0013906", source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: exactMatch DOID:0110062
property_value: exactMatch http://identifiers.org/omim/614832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553830

[Term]
id: MONDO:0013907
name: bilateral generalized polymicrogyria
def: "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability , problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria]
subset: gard_rare {source="GARD:0010786"}
subset: ordo_clinical_subtype {source="Orphanet:208447"}
synonym: "bilateral generalised polymicrogyria" RELATED [GARD:0010786]
synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [OMIM:614833]
synonym: "microcephaly, short stature, and polymicrogyria with or without seizures; MSSP" RELATED [OMIM:614833]
synonym: "MSSP" RELATED [OMIM:614833]
synonym: "PMGYS" RELATED [MONDO:Lexical, OMIM:614833]
synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833]
synonym: "polymicrogyria with seizures; PMGYS" RELATED [OMIM:614833]
xref: GARD:0010786 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:208447/attributed", source="ORDO:208447/ntbt", source="Orphanet:208447"}
xref: OMIM:614833 {source="MONDO:equivalentTo", source="ORDO:208447/e"}
xref: Orphanet:208447 {source="MONDO:equivalentTo", source="OMIM:614833"}
xref: UMLS:C3553831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614833"}
is_a: MONDO:0017091 {source="Orphanet:208447"} ! bilateral polymicrogyria
is_a: MONDO:0018764 ! microcephalic primordial dwarfism due to RTTN deficiency
property_value: exactMatch http://identifiers.org/omim/614833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553831
property_value: exactMatch Orphanet:208447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria xsd:anyURI {source="GARD:0010786"}

[Term]
id: MONDO:0013908
name: TTPP3
subset: predisposition
synonym: "thyrotoxic periodic paralysis, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:614834]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 3; TTPP3" RELATED [OMIM:614834]
synonym: "TTPP3" EXACT [MONDO:Lexical, OMIM:614834]
xref: OMIM:614834 {source="MONDO:equivalentTo"}
is_a: MONDO:0019201 {source="DC-OMIM:614834", source="OMIM:614834"} ! thyrotoxic periodic paralysis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553839
property_value: exactMatch http://identifiers.org/omim/614834

[Term]
id: MONDO:0013909
name: HHV8S
synonym: "HHV-8, susceptibility to" RELATED [OMIM:614836]
synonym: "HHV8S" EXACT [MONDO:Lexical, OMIM:614836]
synonym: "HUMAN HERPESVIRUS 8, susceptibility to" RELATED [MONDO:Lexical, OMIM:614836]
synonym: "HUMAN HERPESVIRUS 8, susceptibility to; HHV8S" RELATED [OMIM:614836]
xref: OMIM:614836 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553840
property_value: exactMatch http://identifiers.org/omim/614836

[Term]
id: MONDO:0013910
name: hypogonadotropic hypogonadism 8 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH8" RELATED [MONDO:Lexical, OMIM:614837]
synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614837]
synonym: "hypogonadotropic hypogonadism 8 with or without anosmia; HH8" RELATED [OMIM:614837]
synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1R" EXACT [MONDO:design_pattern]
synonym: "KISS1R hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090074 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090074", source="MONDO:relatedTo"}
xref: OMIM:614837 {source="DOID:0090074", source="MONDO:equivalentTo"}
xref: UMLS:C3553841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614837"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090074
property_value: exactMatch http://identifiers.org/omim/614837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553841

[Term]
id: MONDO:0013911
name: hypogonadotropic hypogonadism 9 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH9" RELATED [MONDO:Lexical, OMIM:614838]
synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614838]
synonym: "hypogonadotropic hypogonadism 9 with or without anosmia; HH9" RELATED [OMIM:614838]
synonym: "hypogonadotropic hypogonadism caused by mutation in NSMF" EXACT [MONDO:design_pattern]
synonym: "NSMF hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090085 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090085", source="MONDO:relatedTo"}
xref: OMIM:614838 {source="DOID:0090085", source="MONDO:equivalentTo"}
xref: UMLS:C3553842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614838"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090085
property_value: exactMatch http://identifiers.org/omim/614838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553842

[Term]
id: MONDO:0013912
name: hypogonadotropic hypogonadism 10 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH10" RELATED [MONDO:Lexical, OMIM:614839]
synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614839]
synonym: "hypogonadotropic hypogonadism 10 with or without anosmia; HH10" RELATED [OMIM:614839]
synonym: "hypogonadotropic hypogonadism caused by mutation in TAC3" EXACT [MONDO:design_pattern]
synonym: "TAC3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090089 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090089"}
xref: OMIM:614839 {source="DOID:0090089", source="MONDO:equivalentTo"}
xref: UMLS:C3553843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614839"}
is_a: MONDO:0018555 {source="DOID:0090089", source="MONDO:Redundant", source="MONDOLEX:0013912", source="OMIM:614839"} ! hypogonadotropic hypogonadism
property_value: exactMatch DOID:0090089
property_value: exactMatch http://identifiers.org/omim/614839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553843

[Term]
id: MONDO:0013913
name: hypogonadotropic hypogonadism 11 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH11" RELATED [MONDO:Lexical, OMIM:614840]
synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614840]
synonym: "hypogonadotropic hypogonadism 11 with or without anosmia; HH11" RELATED [OMIM:614840]
synonym: "hypogonadotropic hypogonadism caused by mutation in TACR3" EXACT [MONDO:design_pattern]
synonym: "TACR3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090071 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090071"}
xref: OMIM:614840 {source="MONDO:equivalentTo", source="DOID:0090071"}
xref: UMLS:C3553844 {source="OMIM:614840", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090071
property_value: exactMatch http://identifiers.org/omim/614840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553844

[Term]
id: MONDO:0013914
name: hypogonadotropic hypogonadism 12 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21." [DOID:0090072, PMID:19535795]
subset: gard_rare
synonym: "eunuchoidism familial hypogonadotropic" RELATED [GARD:0000276]
synonym: "eunuchoidism, familial hypogonadotropic" EXACT [OMIM:614841]
synonym: "familial hypogonadotrophic eunuchoidism" EXACT [DOID:0090072]
synonym: "familial hypogonadotropic eunuchoidism" RELATED [GARD:0000276]
synonym: "familial idiopathic gonadotrpin deficiency" EXACT [DOID:0090072]
synonym: "FIGD" RELATED [GARD:0000276]
synonym: "gonadotropin deficiency familial idiopathic" RELATED [GARD:0000276]
synonym: "gonadotropin deficiency, familial idiopathic" RELATED [OMIM:614841]
synonym: "HH12" RELATED [MONDO:Lexical, OMIM:614841]
synonym: "hypogonadotropic hypogonadism 12 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614841]
synonym: "hypogonadotropic hypogonadism 12 with or without anosmia; HH12" RELATED [OMIM:614841]
xref: DOID:0090072 {source="MONDO:equivalentTo"}
xref: GARD:0000276 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090072"}
xref: MESH:C535764 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614841 {source="MONDO:equivalentTo", source="DOID:0090072"}
xref: UMLS:C1856897 {source="GARD:0000276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0018555 {source="DOID:0090072", source="MONDOLEX:0013914", source="OMIM:614841"} ! hypogonadotropic hypogonadism
property_value: closeMatch http://identifiers.org/omim/227200
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553845
property_value: closeMatch Orphanet:1958
property_value: exactMatch DOID:0090072
property_value: exactMatch http://identifiers.org/mesh/C535764
property_value: exactMatch http://identifiers.org/omim/614841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic xsd:anyURI {source="GARD:0000276"}

[Term]
id: MONDO:0013915
name: hypogonadotropic hypogonadism 13 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH13" RELATED [MONDO:Lexical, OMIM:614842]
synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614842]
synonym: "hypogonadotropic hypogonadism 13 with or without anosmia; HH13" RELATED [OMIM:614842]
synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1" EXACT [MONDO:design_pattern]
synonym: "KISS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090073 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090073", source="MONDO:relatedTo"}
xref: OMIM:614842 {source="DOID:0090073", source="MONDO:equivalentTo"}
xref: UMLS:C3541462 {source="NCBI:mim2gene_medline", source="OMIM:614842", source="MONDO:equivalentTo"}
is_a: MONDO:0018555 {source="DOID:0090073", source="MONDO:Redundant", source="MONDOLEX:0013915", source="OMIM:614842"} ! hypogonadotropic hypogonadism
property_value: exactMatch DOID:0090073
property_value: exactMatch http://identifiers.org/omim/614842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541462

[Term]
id: MONDO:0013916
name: nephronophthisis 14
def: "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Joubert syndrome 19" RELATED [OMIM:614844]
synonym: "nephronophthisis (disease) caused by mutation in ZNF423" EXACT []
synonym: "nephronophthisis 14" EXACT [MONDO:Lexical, OMIM:614844]
synonym: "nephronophthisis 14; NPHP14" RELATED [OMIM:614844]
synonym: "nephronophthisis type 14" EXACT [DOID:0111122, MONDORULE:2, OMIM:614844]
synonym: "NPHP14" EXACT [DOID:0111122, MONDO:Lexical, OMIM:614844]
synonym: "ZNF423 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111122 {source="MONDO:equivalentTo"}
xref: OMIM:614844 {source="MONDO:equivalentTo", source="DOID:0111122"}
xref: UMLS:C3539071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614844"}
is_a: MONDO:0019005 {source="DC-OMIM:614844", source="DOID:0111122", source="MONDO:Redundant", source="OMIM:614844"} ! nephronophthisis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553846
property_value: exactMatch DOID:0111122
property_value: exactMatch http://identifiers.org/omim/614844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539071

[Term]
id: MONDO:0013917
name: nephronophthisis 15
def: "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP164 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in CEP164" EXACT []
synonym: "nephronophthisis 15" EXACT [MONDO:Lexical, OMIM:614845]
synonym: "nephronophthisis 15; NPHP15" RELATED [OMIM:614845]
synonym: "nephronophthisis type 15" EXACT [DOID:0111123, MONDORULE:2, OMIM:614845]
synonym: "NPHP15" EXACT [DOID:0111123, MONDO:Lexical, OMIM:614845]
xref: DOID:0111123 {source="MONDO:equivalentTo"}
xref: OMIM:614845 {source="MONDO:equivalentTo", source="DOID:0111123"}
xref: UMLS:C3541853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614845"}
is_a: MONDO:0017842 {source="ORDO:3156/btnt"} ! Senior-Loken syndrome
is_a: MONDO:0019005 {source="DC-OMIM:614845", source="DOID:0111123", source="MONDO:Redundant", source="OMIM:614845"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111123
property_value: exactMatch http://identifiers.org/omim/614845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541853

[Term]
id: MONDO:0013918
name: distal tetrasomy 15q
subset: ordo_etiological_subtype {source="Orphanet:314588"}
synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4, Orphanet:314588]
synonym: "levy-Shanske syndrome" RELATED [OMIM:614846]
synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588]
synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588]
synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846]
xref: ICD10:Q99.8 {source="Orphanet:314588", source="ORDO:314588/attributed", source="ORDO:314588/ntbt"}
xref: OMIM:614846 {source="Orphanet:314588", source="ORDO:314588/e", source="MONDO:equivalentTo"}
xref: Orphanet:314588 {source="MONDO:equivalentTo", source="OMIM:614846"}
xref: UMLS:C3553858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614846"}
xref: UMLS:CN203770 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017806 {source="Orphanet:314588"} ! 15q overgrowth syndrome
property_value: exactMatch http://identifiers.org/omim/614846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203770
property_value: exactMatch Orphanet:314588

[Term]
id: MONDO:0013919
name: epilepsy, idiopathic generalized, susceptibility to, 12
subset: predisposition
synonym: "EIG12" RELATED [MONDO:Lexical, OMIM:614847]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:614847]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 12; EIG12" RELATED [OMIM:614847]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:614847]
synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847]
xref: OMIM:614847 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553859
property_value: exactMatch http://identifiers.org/omim/614847

[Term]
id: MONDO:0013920
name: herpes simplex encephalitis, susceptibility to, 3
def: "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849]
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5; IIAE5" RELATED [OMIM:614849]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [OMIM:614849]
synonym: "herpes simplex encephalitis caused by mutation in TRAF3" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849]
synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849]
synonym: "IIAE5" RELATED [OMIM:614849]
synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614849 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:614849", source="indirect"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0012521 {source="MONDO:Redundant", source="MONDOLEX:0013920", source="ORDO:1930/btnt"} ! herpes simplex encephalitis
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553868
property_value: exactMatch http://identifiers.org/omim/614849

[Term]
id: MONDO:0013921
name: herpes simplex encephalitis, susceptibility to, 4
def: "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850]
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6; IIAE6" RELATED [OMIM:614850]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [OMIM:614850]
synonym: "herpes simplex encephalitis caused by mutation in TICAM1" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850]
synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850]
synonym: "IIAE6" RELATED [OMIM:614850]
synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614850 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:614850", source="indirect"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0012521 {source="MONDO:Redundant", source="MONDOLEX:0013921", source="ORDO:1930/btnt"} ! herpes simplex encephalitis
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553869
property_value: exactMatch http://identifiers.org/omim/614850

[Term]
id: MONDO:0013922
name: Seckel syndrome 7
def: "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." [Orphanet:319675]
comment: ORDO calls this microcephalic primordial dwarfism, Dauber type
subset: ordo_malformation_syndrome {source="Orphanet:319675"}
synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675]
synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL7" EXACT [DOID:0070011, MONDO:Lexical, OMIM:614851]
synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851]
synonym: "Seckel syndrome 7; SCKL7" RELATED [OMIM:614851]
synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851]
xref: DOID:0070011 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:319675/attributed", source="ORDO:319675/ntbt", source="Orphanet:319675"}
xref: OMIM:614851 {source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675", source="ORDO:319675/e"}
xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"}
xref: UMLS:C3553870 {source="OMIM:614851", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:614851", source="DOID:0070011", source="MONDO:Redundant", source="MONDOLEX:0013922", source="OMIM:614851"} ! Seckel syndrome
property_value: exactMatch DOID:0070011
property_value: exactMatch http://identifiers.org/omim/614851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553870
property_value: exactMatch Orphanet:319675

[Term]
id: MONDO:0013923
name: microcephaly 9, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CEP152" EXACT [MONDO:design_pattern]
synonym: "CEP152 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH9" RELATED [MONDO:Lexical, OMIM:614852]
synonym: "microcephaly 9, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614852]
synonym: "microcephaly 9, primary, autosomal recessive; MCPH9" RELATED [OMIM:614852]
xref: DOID:0070292 {source="MONDO:equivalentTo"}
xref: OMIM:614852 {source="MONDO:equivalentTo"}
xref: UMLS:C3553886 {source="OMIM:614852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:614852", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070292
property_value: exactMatch http://identifiers.org/omim/614852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553886

[Term]
id: MONDO:0013924
name: osteogenesis imperfecta type 13
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMP1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI, type 13" RELATED [OMIM:614856]
synonym: "OI13" EXACT [DOID:0110342, MONDO:Lexical, OMIM:614856]
synonym: "osteogenesis imperfecta caused by mutation in BMP1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XIII" EXACT [DOID:0110342]
synonym: "osteogenesis imperfecta, type 13" RELATED [OMIM:614856]
synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical, OMIM:614856]
synonym: "osteogenesis imperfecta, type XIII; OI13" RELATED [OMIM:614856]
xref: DOID:0110342 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110342"}
xref: OMIM:614856 {source="MONDO:equivalentTo", source="DOID:0110342"}
xref: UMLS:C3553887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614856"}
is_a: MONDO:0019019 {source="DC-OMIM:614856", source="DOID:0110342", source="MONDO:Redundant", source="OMIM:614856"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110342
property_value: exactMatch http://identifiers.org/omim/614856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553887

[Term]
id: MONDO:0013925
name: methylmalonic acidemia with homocystinuria, type cblJ
subset: gard_rare {source="GARD:0012621"}
subset: ordo_clinical_subtype {source="Orphanet:369955"}
synonym: "cblJ defects" EXACT [Orphanet:369955]
synonym: "cobalamin J defect" EXACT [Orphanet:369955]
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" EXACT [Orphanet:369955]
synonym: "MAHCJ" RELATED [MONDO:Lexical, OMIM:614857]
synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:0012621]
synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857]
synonym: "methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ" RELATED [OMIM:614857]
synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955]
xref: GARD:0012621 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="Orphanet:369955", source="ORDO:369955/attributed", source="ORDO:369955/ntbt"}
xref: OMIM:614857 {source="Orphanet:369955", source="ORDO:369955/e", source="MONDO:equivalentTo"}
xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"}
xref: UMLS:C3553915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614857"}
is_a: MONDO:0016826 {source="DC-OMIM:614857", source="MONDOLEX:0013925", source="Orphanet:369955"} ! methylmalonic acidemia with homocystinuria
property_value: exactMatch http://identifiers.org/omim/614857
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553915
property_value: exactMatch Orphanet:369955
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj xsd:anyURI {source="GARD:0012621"}

[Term]
id: MONDO:0013926
name: hypogonadotropic hypogonadism 14 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH14" RELATED [MONDO:Lexical, OMIM:614858]
synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614858]
synonym: "hypogonadotropic hypogonadism 14 with or without anosmia; HH14" RELATED [OMIM:614858]
synonym: "hypogonadotropic hypogonadism caused by mutation in WDR11" EXACT [MONDO:design_pattern]
synonym: "WDR11 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090087 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090087", source="MONDO:relatedTo"}
xref: OMIM:614858 {source="DOID:0090087", source="MONDO:equivalentTo"}
xref: UMLS:C3540450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614858"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090087
property_value: exactMatch http://identifiers.org/omim/614858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3540450

[Term]
id: MONDO:0013927
name: peroxisome biogenesis disorder 3A (Zellweger)
synonym: "PBD3A" RELATED [MONDO:Lexical, OMIM:614859]
synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614859]
synonym: "peroxisome biogenesis disorder 3A (Zellweger); PBD3A" RELATED [OMIM:614859]
synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [OMIM:614859]
xref: MESH:C566633 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614859 {source="MONDO:equivalentTo"}
xref: UMLS:C3553929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614859"}
is_a: MONDO:0019609 {source="DC-OMIM:614859", source="MONDOLEX:0013927", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866340
property_value: exactMatch http://identifiers.org/mesh/C566633
property_value: exactMatch http://identifiers.org/omim/614859
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553929

[Term]
id: MONDO:0013928
name: dystonia 23
def: "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:420492"}
synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492]
synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492]
synonym: "dystonia 23; DYT23" RELATED [OMIM:614860]
synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860]
synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern]
synonym: "DYT23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492]
xref: DOID:0090051 {source="MONDO:equivalentTo"}
xref: ICD10:G24.8 {source="DOID:0090051", source="Orphanet:420492", source="ORDO:420492/attributed", source="ORDO:420492/ntbt"}
xref: OMIM:614860 {source="DOID:0090051", source="MONDO:equivalentTo", source="Orphanet:420492", source="ORDO:420492/e"}
xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"}
xref: UMLS:C3538999 {source="OMIM:614860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="DOID:0090051"} ! focal dystonia
is_a: MONDO:0015990 {source="Orphanet:420492"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090051
property_value: exactMatch http://identifiers.org/omim/614860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3538999
property_value: exactMatch Orphanet:420492

[Term]
id: MONDO:0013929
name: autosomal recessive nonsyndromic deafness 98
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 98" EXACT [DOID:0110540]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 98" EXACT [DOID:0110540, MONDORULE:2]
synonym: "deafness, autosomal recessive 98" RELATED [MONDO:Lexical, OMIM:614861]
synonym: "deafness, autosomal recessive 98; DFNB98" RELATED [OMIM:614861]
synonym: "deafness, autosomal recessive type 98" EXACT [MONDORULE:2, OMIM:614861]
synonym: "DFNB98" EXACT [DOID:0110540, MONDO:Lexical, OMIM:614861]
synonym: "TSPEAR autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110540 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110540"}
xref: OMIM:614861 {source="MONDO:equivalentTo", source="DOID:0110540"}
xref: UMLS:C3553932 {source="OMIM:614861", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:614861", source="DOID:0110540", source="MONDO:Redundant", source="OMIM:614861"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110540
property_value: exactMatch http://identifiers.org/omim/614861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553932

[Term]
id: MONDO:0013930
name: peroxisome biogenesis disorder 4A (Zellweger)
synonym: "PBD4A" RELATED [MONDO:Lexical, OMIM:614862]
synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614862]
synonym: "peroxisome biogenesis disorder 4A (Zellweger); PBD4A" RELATED [OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [OMIM:614862]
xref: MESH:C563301 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614862 {source="MONDO:equivalentTo"}
xref: UMLS:C3553936 {source="OMIM:614862", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614862", source="MONDOLEX:0013930", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832230
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832231
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832232
property_value: exactMatch http://identifiers.org/mesh/C563301
property_value: exactMatch http://identifiers.org/omim/614862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553936

[Term]
id: MONDO:0013931
name: peroxisome biogenesis disorder 4B
synonym: "PBD4B" RELATED [MONDO:Lexical, OMIM:614863]
synonym: "peroxisome biogenesis disorder 4B" EXACT [MONDO:Lexical, OMIM:614863]
synonym: "peroxisome biogenesis disorder 4B; PBD4B" RELATED [OMIM:614863]
synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4, OMIM:614863]
xref: OMIM:614863 {source="MONDO:equivalentTo"}
xref: UMLS:C3553937 {source="OMIM:614863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553937

[Term]
id: MONDO:0013932
name: peroxisome biogenesis disorder 5A (Zellweger)
synonym: "PBD5A" RELATED [MONDO:Lexical, OMIM:614866]
synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614866]
synonym: "peroxisome biogenesis disorder 5A (Zellweger); PBD5A" RELATED [OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [OMIM:614866]
xref: OMIM:614866 {source="MONDO:equivalentTo"}
xref: UMLS:C3553940 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614866"}
is_a: MONDO:0019609 {source="DC-OMIM:614866", source="MONDOLEX:0013932", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3539010
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553941
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553942
property_value: exactMatch http://identifiers.org/omim/614866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553940

[Term]
id: MONDO:0013933
name: peroxisome biogenesis disorder 5B
synonym: "PBD5B" RELATED [MONDO:Lexical, OMIM:614867]
synonym: "peroxisome biogenesis disorder 5B" EXACT [MONDO:Lexical, OMIM:614867]
synonym: "peroxisome biogenesis disorder 5B; PBD5B" RELATED [OMIM:614867]
synonym: "peroxisome biogenesis disorder type 5B" EXACT [MONDORULE:4, OMIM:614867]
xref: OMIM:614867 {source="MONDO:equivalentTo"}
xref: UMLS:C3542026 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614867"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542026

[Term]
id: MONDO:0013934
name: combined immunodeficiency due to STK4 deficiency
def: "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." [Orphanet:314689]
subset: ordo_disease {source="Orphanet:314689"}
synonym: "Cid due to STK4 deficiency" EXACT [Orphanet:314689]
synonym: "Mst1 deficiency" RELATED [OMIM:614868]
synonym: "STK4 deficiency" RELATED [OMIM:614868]
synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868]
synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; TIIAC" RELATED [OMIM:614868]
synonym: "TIIAC" RELATED [MONDO:Lexical, OMIM:614868]
xref: ICD10:D81.8 {source="Orphanet:314689", source="ORDO:314689/attributed", source="ORDO:314689/ntbt"}
xref: OMIM:614868 {source="Orphanet:314689", source="ORDO:314689/e", source="MONDO:equivalentTo"}
xref: Orphanet:314689 {source="MONDO:equivalentTo", source="OMIM:614868"}
xref: UMLS:C3553943 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614868"}
is_a: MONDO:0018814 {source="Orphanet:314689"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/614868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553943
property_value: exactMatch Orphanet:314689

[Term]
id: MONDO:0013935
name: Usher syndrome type 1J
def: "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CIB2 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH1J" EXACT [DOID:0110836, MONDO:Lexical, OMIM:614869]
synonym: "Usher syndrome caused by mutation in CIB2" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type Ij" EXACT [DOID:0110836]
synonym: "Usher syndrome, type 1J" RELATED [OMIM:614869]
synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical, OMIM:614869]
synonym: "USHER syndrome, type Ij; USH1J" RELATED [OMIM:614869]
xref: DOID:0110836 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110836"}
xref: OMIM:614869 {source="MONDO:equivalentTo", source="DOID:0110836"}
xref: UMLS:C3553944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614869"}
is_a: MONDO:0010168 {source="DOID:0110836", source="MONDOLEX:0013935"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110836
property_value: exactMatch http://identifiers.org/omim/614869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553944

[Term]
id: MONDO:0013936
name: peroxisome biogenesis disorder 6A (Zellweger)
synonym: "PBD6A" RELATED [MONDO:Lexical, OMIM:614870]
synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614870]
synonym: "peroxisome biogenesis disorder 6A (Zellweger); PBD6A" RELATED [OMIM:614870]
synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [OMIM:614870]
synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [OMIM:614870]
xref: MESH:C566422 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614870 {source="MONDO:equivalentTo"}
xref: UMLS:C3553947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614870"}
is_a: MONDO:0019609 {source="DC-OMIM:614870", source="MONDOLEX:0013936", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864399
property_value: exactMatch http://identifiers.org/mesh/C566422
property_value: exactMatch http://identifiers.org/omim/614870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553947

[Term]
id: MONDO:0013937
name: peroxisome biogenesis disorder 6B
synonym: "PBD6B" RELATED [MONDO:Lexical, OMIM:614871]
synonym: "peroxisome biogenesis disorder 6B" EXACT [MONDO:Lexical, OMIM:614871]
synonym: "peroxisome biogenesis disorder 6B; PBD6B" RELATED [OMIM:614871]
synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4, OMIM:614871]
xref: OMIM:614871 {source="MONDO:equivalentTo"}
xref: UMLS:C3553948 {source="OMIM:614871", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553948

[Term]
id: MONDO:0013938
name: peroxisome biogenesis disorder 7A (Zellweger)
synonym: "PBD7A" RELATED [MONDO:Lexical, OMIM:614872]
synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614872]
synonym: "peroxisome biogenesis disorder 7A (Zellweger); PBD7A" RELATED [OMIM:614872]
synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [OMIM:614872]
synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [OMIM:614872]
xref: OMIM:614872 {source="MONDO:equivalentTo"}
xref: UMLS:C3888385 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614872", source="MONDOLEX:0013938", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3539168
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553950
property_value: exactMatch http://identifiers.org/omim/614872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888385

[Term]
id: MONDO:0013939
name: peroxisome biogenesis disorder 7B
synonym: "PBD7B" RELATED [MONDO:Lexical, OMIM:614873]
synonym: "peroxisome biogenesis disorder 7B" EXACT [MONDO:Lexical, OMIM:614873]
synonym: "peroxisome biogenesis disorder 7B; PBD7B" RELATED [OMIM:614873]
synonym: "peroxisome biogenesis disorder type 7B" EXACT [MONDORULE:4, OMIM:614873]
xref: OMIM:614873 {source="MONDO:equivalentTo"}
xref: UMLS:C3553951 {source="OMIM:614873", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553951

[Term]
id: MONDO:0013940
name: primary ciliary dyskinesia 18
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD18" EXACT [DOID:0110604, MONDO:Lexical, OMIM:614874]
synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical, OMIM:614874]
synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [OMIM:614874]
synonym: "ciliary dyskinesia, primary, 18; CILD18" RELATED [OMIM:614874]
synonym: "ciliary dyskinesia, primary, type 18" EXACT [MONDORULE:2, OMIM:614874]
synonym: "DNAAF5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [DOID:0110604]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF5" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 18" EXACT [DOID:0110604, MONDORULE:2]
xref: DOID:0110604 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110604"}
xref: OMIM:614874 {source="DOID:0110604", source="MONDO:equivalentTo"}
xref: UMLS:C3543825 {source="OMIM:614874", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:614874", source="DOID:0110604", source="MONDO:Redundant", source="MONDOLEX:0013940", source="OMIM:614874"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110604
property_value: exactMatch http://identifiers.org/omim/614874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3543825

[Term]
id: MONDO:0013941
name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
def: "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." [Orphanet:99646]
subset: ordo_disease {source="Orphanet:99646"}
synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [OMIM:614875]
synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
xref: OMIM:614875 {source="ORDO:99646/e", source="Orphanet:99646", source="MONDO:equivalentTo"}
xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"}
xref: UMLS:C3553958 {source="NCBI:mim2gene_medline", source="OMIM:614875", source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:99646"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/omim/614875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553958
property_value: exactMatch Orphanet:99646

[Term]
id: MONDO:0013942
name: peroxisome biogenesis disorder 8A (Zellweger)
synonym: "PBD8A" RELATED [MONDO:Lexical, OMIM:614876]
synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614876]
synonym: "peroxisome biogenesis disorder 8A (Zellweger); PBD8A" RELATED [OMIM:614876]
synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [OMIM:614876]
synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [OMIM:614876]
xref: OMIM:614876 {source="MONDO:equivalentTo"}
xref: UMLS:C3553959 {source="OMIM:614876", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614876", source="MONDOLEX:0013942", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863998
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863999
property_value: exactMatch http://identifiers.org/omim/614876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553959

[Term]
id: MONDO:0013943
name: peroxisome biogenesis disorder 8B
synonym: "PBD8B" RELATED [MONDO:Lexical, OMIM:614877]
synonym: "peroxisome biogenesis disorder 8B" EXACT [MONDO:Lexical, OMIM:614877]
synonym: "peroxisome biogenesis disorder 8B; PBD8B" RELATED [OMIM:614877]
synonym: "peroxisome biogenesis disorder type 8B" EXACT [MONDORULE:4, OMIM:614877]
xref: OMIM:614877 {source="MONDO:equivalentTo"}
xref: UMLS:C3553960 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614877"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553960

[Term]
id: MONDO:0013944
name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
subset: ordo_disease {source="Orphanet:324530"}
synonym: "APLAID" EXACT [MONDO:Lexical, OMIM:614878, Orphanet:324530]
synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878]
synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated; APLAID" RELATED [OMIM:614878]
xref: OMIM:614878 {source="MONDO:equivalentTo", source="Orphanet:324530", source="ORDO:324530/e"}
xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"}
xref: UMLS:C3553961 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614878"}
is_a: MONDO:0017956 {source="Orphanet:324530"} ! mixed autoinflammatory and autoimmune syndrome
property_value: exactMatch http://identifiers.org/omim/614878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553961
property_value: exactMatch Orphanet:324530

[Term]
id: MONDO:0013945
name: peroxisome biogenesis disorder 9B
synonym: "PBD9B" RELATED [MONDO:Lexical, OMIM:614879]
synonym: "peroxisome biogenesis disorder 9B" EXACT [MONDO:Lexical, OMIM:614879]
synonym: "peroxisome biogenesis disorder 9B; PBD9B" RELATED [OMIM:614879]
synonym: "peroxisome biogenesis disorder type 9B" EXACT [MONDORULE:4, OMIM:614879]
synonym: "peroxisome biogenesis disorder, complementation group 11" RELATED [OMIM:614879]
synonym: "peroxisome biogenesis disorder, complementation group R" RELATED [OMIM:614879]
synonym: "peroxisome biogenesis disorder, PEX7-related, atypical" RELATED [OMIM:614879]
synonym: "Refsum disease, adult, 2" RELATED [OMIM:614879]
xref: OMIM:614879 {source="MONDO:equivalentTo"}
xref: UMLS:CN159238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009958 {source="ORDO:773/btnt"} ! adult Refsum disease
is_a: MONDO:0019609 {source="DC-OMIM:614879", source="MONDOLEX:0013945"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866351
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866352
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749346
property_value: exactMatch http://identifiers.org/omim/614879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN159238

[Term]
id: MONDO:0013946
name: hypogonadotropic hypogonadism 15 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH15" RELATED [MONDO:Lexical, OMIM:614880]
synonym: "HS6ST1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614880]
synonym: "hypogonadotropic hypogonadism 15 with or without anosmia; HH15" RELATED [OMIM:614880]
synonym: "hypogonadotropic hypogonadism caused by mutation in HS6ST1" EXACT [MONDO:design_pattern]
xref: DOID:0090075 {source="MONDO:equivalentTo"}
xref: ICD10:23.0 {source="DOID:0090075"}
xref: OMIM:614880 {source="DOID:0090075", source="MONDO:equivalentTo"}
xref: UMLS:C3553977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614880"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090075
property_value: exactMatch http://identifiers.org/omim/614880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553977

[Term]
id: MONDO:0013947
name: young adult-onset distal hereditary motor neuropathy
def: "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." [Orphanet:314485]
subset: ordo_disease {source="Orphanet:314485"}
synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [Orphanet:314485]
synonym: "DSMA5" RELATED [MONDO:Lexical, OMIM:614881]
synonym: "dSMA5" EXACT [Orphanet:314485]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical, OMIM:614881]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 5; DSMA5" RELATED [OMIM:614881]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1, OMIM:614881]
synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:314485", source="ORDO:314485/attributed", source="ORDO:314485/ntbt"}
xref: OMIM:614881 {source="MONDO:equivalentTo", source="Orphanet:314485", source="ORDO:314485/e"}
xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"}
xref: UMLS:C3553989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614881"}
is_a: MONDO:0001516 {source="DC-OMIM:614881"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="MONDOLEX:0013947", source="Orphanet:314485"} ! autosomal recessive distal hereditary motor neuropathy
property_value: exactMatch http://identifiers.org/omim/614881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553989
property_value: exactMatch Orphanet:314485

[Term]
id: MONDO:0013948
name: peroxisome biogenesis disorder 10A (Zellweger)
synonym: "PBD10A" RELATED [MONDO:Lexical, OMIM:614882]
synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614882]
synonym: "peroxisome biogenesis disorder 10A (Zellweger); PBD10A" RELATED [OMIM:614882]
synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [OMIM:614882]
synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [OMIM:614882]
xref: OMIM:614882 {source="MONDO:equivalentTo"}
xref: UMLS:C3553999 {source="OMIM:614882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614882", source="MONDOLEX:0013948", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864171
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864172
property_value: exactMatch http://identifiers.org/omim/614882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3553999

[Term]
id: MONDO:0013949
name: peroxisome biogenesis disorder 11A (Zellweger)
synonym: "PBD11A" RELATED [MONDO:Lexical, OMIM:614883]
synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614883]
synonym: "peroxisome biogenesis disorder 11A (Zellweger); PBD11A" RELATED [OMIM:614883]
synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [OMIM:614883]
synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [OMIM:614883]
xref: OMIM:614883 {source="MONDO:equivalentTo"}
xref: UMLS:C3554000 {source="OMIM:614883", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614883", source="MONDOLEX:0013949", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866259
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866260
property_value: exactMatch http://identifiers.org/omim/614883
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554000

[Term]
id: MONDO:0013950
name: peroxisome biogenesis disorder 11B
synonym: "PBD11B" RELATED [MONDO:Lexical, OMIM:614885]
synonym: "peroxisome biogenesis disorder 11B" EXACT [MONDO:Lexical, OMIM:614885]
synonym: "peroxisome biogenesis disorder 11B; PBD11B" RELATED [OMIM:614885]
synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4, OMIM:614885]
xref: OMIM:614885 {source="MONDO:equivalentTo"}
xref: UMLS:C3554001 {source="OMIM:614885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554001

[Term]
id: MONDO:0013951
name: peroxisome biogenesis disorder 12A (Zellweger)
synonym: "Cg14" RELATED [OMIM:614886]
synonym: "Cgj" RELATED [OMIM:614886]
synonym: "PBD12A" RELATED [MONDO:Lexical, OMIM:614886]
synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614886]
synonym: "peroxisome biogenesis disorder 12A (Zellweger); PBD12A" RELATED [OMIM:614886]
synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [OMIM:614886]
synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [OMIM:614886]
xref: OMIM:614886 {source="MONDO:equivalentTo"}
xref: UMLS:C3554002 {source="NCBI:mim2gene_medline", source="OMIM:614886", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614886", source="MONDOLEX:0013951", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838299
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838300
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554003
property_value: exactMatch http://identifiers.org/omim/614886
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554002

[Term]
id: MONDO:0013952
name: peroxisome biogenesis disorder 13A (Zellweger)
synonym: "PBD13A" RELATED [MONDO:Lexical, OMIM:614887]
synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT [MONDO:Lexical, OMIM:614887]
synonym: "peroxisome biogenesis disorder 13A (Zellweger); PBD13A" RELATED [OMIM:614887]
synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [OMIM:614887]
xref: MESH:C566624 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614887 {source="MONDO:equivalentTo"}
xref: UMLS:C3554004 {source="OMIM:614887", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019609 {source="DC-OMIM:614887", source="MONDOLEX:0013952", source="ORDO-Gene"} ! Zellweger syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866257
property_value: exactMatch http://identifiers.org/mesh/C566624
property_value: exactMatch http://identifiers.org/omim/614887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554004

[Term]
id: MONDO:0013953
name: immunodeficiency 28
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Ifngr2 deficiency" RELATED [OMIM:614889]
synonym: "IFNGR2 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD28" RELATED [MONDO:Lexical, OMIM:614889]
synonym: "immunodeficiency 28" EXACT [MONDO:Lexical, OMIM:614889]
synonym: "immunodeficiency 28, Mycobacteriosis" RELATED [OMIM:614889]
synonym: "immunodeficiency 28; IMD28" RELATED [OMIM:614889]
synonym: "immunodeficiency type 28" EXACT [MONDORULE:2, OMIM:614889]
synonym: "primary immunodeficiency disease caused by mutation in IFNGR2" EXACT [MONDO:design_pattern]
xref: OMIM:614889 {source="MONDO:equivalentTo"}
xref: UMLS:C4013947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:614889", source="MONDO:Redundant"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/614889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013947

[Term]
id: MONDO:0013954
name: mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:319558"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" EXACT []
synonym: "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IL12B deficiency" RELATED [OMIM:614890]
synonym: "IMD29" RELATED [MONDO:Lexical, OMIM:614890]
synonym: "immunodeficiency 29" RELATED [MONDO:Lexical, OMIM:614890]
synonym: "immunodeficiency 29; IMD29" RELATED [OMIM:614890]
synonym: "immunodeficiency type 29" EXACT [MONDORULE:2, OMIM:614890]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [Orphanet:319558]
synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558]
synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558]
xref: ICD10:D84.8 {source="ORDO:319558/attributed", source="ORDO:319558/ntbt", source="Orphanet:319558"}
xref: OMIM:614890 {source="MONDO:equivalentTo", source="Orphanet:319558", source="ORDO:319558/e"}
xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"}
xref: UMLS:C4013948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017897 {source="Orphanet:319558"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://identifiers.org/omim/614890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013948
property_value: exactMatch Orphanet:319558

[Term]
id: MONDO:0013955
name: mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:319552"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" EXACT []
synonym: "IL-12Râ1 deficiency" RELATED [GARD:0010984]
synonym: "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IL12RB1 deficiency" RELATED [OMIM:614891]
synonym: "IMD30" RELATED [MONDO:Lexical, OMIM:614891]
synonym: "immunodeficiency 30" RELATED [MONDO:Lexical, OMIM:614891]
synonym: "immunodeficiency 30; IMD30" RELATED [OMIM:614891]
synonym: "immunodeficiency type 30" EXACT [MONDORULE:2, OMIM:614891]
synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552]
synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency" RELATED [GARD:0010984]
synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552]
synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552]
xref: GARD:0010984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D84.8 {source="ORDO:319552/attributed", source="ORDO:319552/ntbt", source="Orphanet:319552"}
xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="ORDO:319552/e"}
xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"}
xref: UMLS:C4013949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017897 {source="Orphanet:319552"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://identifiers.org/omim/614891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013949
property_value: exactMatch Orphanet:319552

[Term]
id: MONDO:0013956
name: mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." [Orphanet:319595]
subset: ordo_disease {source="Orphanet:319595"}
subset: predisposition
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1" EXACT []
synonym: "IMD31A" RELATED [MONDO:Lexical, OMIM:614892]
synonym: "immunodeficiency 31A" RELATED [MONDO:Lexical, OMIM:614892]
synonym: "immunodeficiency 31A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614892]
synonym: "immunodeficiency 31A; IMD31A" RELATED [OMIM:614892]
synonym: "immunodeficiency type 31A" EXACT [MONDORULE:4, OMIM:614892]
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595]
synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595]
synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595]
synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892]
xref: ICD10:D84.8 {source="ORDO:319595/attributed", source="ORDO:319595/ntbt", source="Orphanet:319595"}
xref: OMIM:614892 {source="MONDO:equivalentTo", source="ORDO:319595/e", source="Orphanet:319595"}
xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"}
xref: UMLS:C4013950 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013427 ! immunodeficiency 31B
is_a: MONDO:0017899 {source="Orphanet:319595"} ! autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://identifiers.org/omim/614892
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013950
property_value: exactMatch Orphanet:319595

[Term]
id: MONDO:0013957
name: mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).." [Orphanet:319600]
subset: ordo_disease {source="Orphanet:319600"}
subset: predisposition
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8" EXACT []
synonym: "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant" RELATED [OMIM:614893]
synonym: "IMD32A" RELATED [MONDO:Lexical, OMIM:614893]
synonym: "immunodeficiency 32A" RELATED [MONDO:Lexical, OMIM:614893]
synonym: "immunodeficiency 32A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614893]
synonym: "immunodeficiency 32A; IMD32A" RELATED [OMIM:614893]
synonym: "immunodeficiency type 32A" EXACT [MONDORULE:4, OMIM:614893]
synonym: "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IRF8 deficiency, autosomal dominant" RELATED [OMIM:614893]
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600]
synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600]
synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600]
xref: ICD10:D84.8 {source="Orphanet:319600", source="ORDO:319600/attributed", source="ORDO:319600/ntbt"}
xref: OMIM:614893 {source="MONDO:equivalentTo", source="Orphanet:319600", source="ORDO:319600/e"}
xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"}
xref: UMLS:C3808589 {source="OMIM:614893", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017899 {source="Orphanet:319600"} ! autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://identifiers.org/omim/614893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808589
property_value: exactMatch Orphanet:319600

[Term]
id: MONDO:0013958
name: monocyte and dendritic cell deficiency, autosomal recessive
synonym: "IRF8 deficiency, autosomal recessive" RELATED [OMIM:614894]
synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:614894]
synonym: "moved to 226990" RELATED [OMIM:614894]
xref: OMIM:614894 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808590
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4016741
property_value: exactMatch http://identifiers.org/omim/614894

[Term]
id: MONDO:0013959
name: Charcot-Marie-Tooth disease type 4F
def: "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." [Orphanet:99952]
subset: gard_rare {source="GARD:0012441"}
subset: ordo_disease {source="Orphanet:99952"}
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" EXACT []
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical, OMIM:614895]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F; CMT4F" RELATED [OMIM:614895]
synonym: "CMT4F" EXACT [DOID:0110193, MONDO:Lexical, OMIM:614895, Orphanet:99952]
synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern]
xref: DOID:0110193 {source="MONDO:equivalentTo"}
xref: GARD:0012441 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99952", source="DOID:0110193", source="ORDO:99952/attributed", source="ORDO:99952/ntbt"}
xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="ORDO:99952/e"}
xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"}
xref: SCTID:715801001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3540453 {source="OMIM:614895", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018995 {source="DOID:0110193", source="MONDO:Redundant", source="Orphanet:99952", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110193
property_value: exactMatch http://identifiers.org/omim/614895
property_value: exactMatch http://identifiers.org/snomedct/715801001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3540453
property_value: exactMatch Orphanet:99952
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f xsd:anyURI {source="GARD:0012441"}

[Term]
id: MONDO:0013960
name: sinoatrial node dysfunction and deafness
def: "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." [Orphanet:324321]
subset: ordo_disease {source="Orphanet:324321"}
synonym: "SANDD" RELATED [MONDO:Lexical, OMIM:614896]
synonym: "sinoatrial node dysfunction and deafness" EXACT [MONDO:Lexical, OMIM:614896]
synonym: "sinoatrial node dysfunction and deafness; SANDD" RELATED [OMIM:614896]
xref: OMIM:614896 {source="MONDO:equivalentTo", source="Orphanet:324321", source="ORDO:324321/e"}
xref: Orphanet:324321 {source="OMIM:614896", source="MONDO:equivalentTo"}
xref: UMLS:C3554018 {source="OMIM:614896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:324321"} ! genetic cardiac rhythm disease
is_a: MONDO:0019589 {source="Orphanet:324321"} ! syndromic genetic deafness
relationship: disease_has_feature MONDO:0000469 ! sinoatrial node disease
property_value: exactMatch http://identifiers.org/omim/614896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554018
property_value: exactMatch Orphanet:324321

[Term]
id: MONDO:0013961
name: hypogonadotropic hypogonadism 16 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH16" RELATED [MONDO:Lexical, OMIM:614897]
synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614897]
synonym: "hypogonadotropic hypogonadism 16 with or without anosmia; HH16" RELATED [OMIM:614897]
synonym: "hypogonadotropic hypogonadism caused by mutation in SEMA3A" EXACT [MONDO:design_pattern]
synonym: "SEMA3A hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090080 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090080"}
xref: OMIM:614897 {source="MONDO:equivalentTo", source="DOID:0090080"}
xref: UMLS:C3554021 {source="NCBI:mim2gene_medline", source="OMIM:614897", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090080
property_value: exactMatch http://identifiers.org/omim/614897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554021

[Term]
id: MONDO:0013962
name: hereditary spastic paraplegia 53
def: "gene (8p22) encoding vacuolar protein sorting-associated protein 37A." [Orphanet:319199]
subset: ordo_disease {source="Orphanet:319199"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805]
synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805]
synonym: "hereditary spastic paraplegia type 53" EXACT [DOID:0110805, MONDORULE:2]
synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614898]
synonym: "spastic paraplegia 53, autosomal recessive; SPG53" RELATED [OMIM:614898]
synonym: "SPG53" EXACT [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199]
synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110805 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:319199/attributed", source="ORDO:319199/ntbt", source="DOID:0110805", source="Orphanet:319199"}
xref: OMIM:614898 {source="MONDO:equivalentTo", source="ORDO:319199/e", source="DOID:0110805", source="Orphanet:319199"}
xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source="DOID:0110805"}
xref: SCTID:723823004 {source="MONDO:equivalentTo"}
xref: UMLS:C3539494 {source="OMIM:614898", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4510082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:319199"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110805
property_value: exactMatch http://identifiers.org/omim/614898
property_value: exactMatch http://identifiers.org/snomedct/723823004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510082
property_value: exactMatch Orphanet:319199

[Term]
id: MONDO:0013963
name: autosomal recessive nonsyndromic deafness 93
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 93" EXACT [DOID:0110537]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 93" EXACT [DOID:0110537, MONDORULE:2]
synonym: "CABP2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 93" RELATED [MONDO:Lexical, OMIM:614899]
synonym: "deafness, autosomal recessive 93; DFNB93" RELATED [OMIM:614899]
synonym: "deafness, autosomal recessive type 93" EXACT [MONDORULE:2, OMIM:614899]
synonym: "DFNB93" EXACT [DOID:0110537, MONDO:Lexical, OMIM:614899]
xref: DOID:0110537 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110537"}
xref: OMIM:614899 {source="DOID:0110537", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:614899", source="DOID:0110537", source="MONDO:Redundant", source="OMIM:614899"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3470075
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888355
property_value: exactMatch DOID:0110537
property_value: exactMatch http://identifiers.org/omim/614899

[Term]
id: MONDO:0013964
name: Diamond-Blackfan anemia 11
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA11" RELATED [MONDO:Lexical, OMIM:614900]
synonym: "Diamond-Blackfan anemia 11" EXACT [MONDO:Lexical, OMIM:614900]
synonym: "Diamond-Blackfan anemia 11; DBA11" RELATED [OMIM:614900]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL26" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900]
synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614900 {source="MONDO:equivalentTo"}
xref: UMLS:C3554042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614900"}
is_a: MONDO:0015253 {source="DC-OMIM:614900", source="MONDO:Redundant", source="MONDOLEX:0013964", source="OMIM:614900"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/614900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554042

[Term]
id: MONDO:0013965
name: lethal congenital contracture syndrome 4
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:0012645"}
synonym: "LCCS4" RELATED [MONDO:Lexical, OMIM:614915]
synonym: "lethal congenital contracture syndrome 4" EXACT [MONDO:Lexical, OMIM:614915]
synonym: "lethal congenital contracture syndrome 4; LCCS4" RELATED [OMIM:614915]
synonym: "lethal congenital contracture syndrome caused by mutation in MYBPC1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 4" EXACT [DOID:0060654, MONDORULE:1, OMIM:614915]
synonym: "MYBPC1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060654 {source="MONDO:equivalentTo"}
xref: GARD:0012645 {source="MONDO:equivalentTo"}
xref: OMIM:614915 {source="MONDO:equivalentTo"}
xref: UMLS:C3554046 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614915"}
is_a: MONDO:0017436 {source="DC-OMIM:614915", source="DOID:0060654", source="MONDO:Redundant", source="OMIM:614915"} ! lethal congenital contracture syndrome
property_value: exactMatch DOID:0060654
property_value: exactMatch http://identifiers.org/omim/614915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554046
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 xsd:anyURI {source="GARD:0012645"}

[Term]
id: MONDO:0013966
name: catecholaminergic polymorphic ventricular tachycardia 4
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CALM1 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 4" EXACT [DOID:0060678, MONDORULE:1]
synonym: "CPVT4" RELATED [MONDO:Lexical, OMIM:614916]
synonym: "CVPT4" EXACT [DOID:0060678]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4" RELATED [MONDO:Lexical, OMIM:614916]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4; CPVT4" RELATED [OMIM:614916]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 4" EXACT [MONDORULE:1, OMIM:614916]
xref: DOID:0060678 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060678"}
xref: OMIM:614916 {source="MONDO:equivalentTo", source="DOID:0060678"}
xref: UMLS:C3554047 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614916"}
is_a: MONDO:0017990 {source="DC-OMIM:614916", source="DOID:0060678", source="MONDO:Redundant", source="OMIM:614916"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060678
property_value: exactMatch http://identifiers.org/omim/614916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554047

[Term]
id: MONDO:0013967
name: peroxisome biogenesis disorder 14B
def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "peroxisome biogenesis disorder 14B" EXACT [MONDO:Lexical, OMIM:614920]
synonym: "peroxisome biogenesis disorder 14B; PEX14B" RELATED [OMIM:614920]
synonym: "peroxisome biogenesis disorder caused by mutation in PEX11B" EXACT [MONDO:design_pattern]
synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920]
synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PEX14B" RELATED [MONDO:Lexical, OMIM:614920]
xref: OMIM:614920 {source="MONDO:equivalentTo"}
xref: UMLS:C3554055 {source="OMIM:614920", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018598 {source="ORDO:44/btnt"} ! neonatal adrenoleukodystrophy
is_a: MONDO:0019174 {source="ORDO:772/btnt"} ! infantile Refsum disease
property_value: exactMatch http://identifiers.org/omim/614920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554055

[Term]
id: MONDO:0013968
name: PGM1-CDG
subset: ordo_disease {source="Orphanet:319646"}
synonym: "CDG it" RELATED [OMIM:614921]
synonym: "CDG syndrome type It" EXACT [Orphanet:319646]
synonym: "CDG-It" EXACT [Orphanet:319646]
synonym: "CDG1T" EXACT [MONDO:Lexical, OMIM:614921, Orphanet:319646]
synonym: "congenital disorder of glycosylation type 1t" EXACT [Orphanet:319646]
synonym: "congenital disorder of glycosylation type It" EXACT [Orphanet:319646]
synonym: "congenital disorder of glycosylation, type It" RELATED [MONDO:Lexical, OMIM:614921]
synonym: "congenital disorder of glycosylation, type It; CDG1T" RELATED [OMIM:614921]
synonym: "glycogen storage disease 14" RELATED [OMIM:614921]
synonym: "glycogen storage disease due to phosphoglucomutase deficiency" RELATED [GARD:0004329]
synonym: "GSD 14" RELATED [OMIM:614921]
synonym: "GSD type 14" RELATED [GARD:0004329]
synonym: "GSDXIV" RELATED [GARD:0004329]
synonym: "Pgm1 deficiency" RELATED [OMIM:614921]
synonym: "phosphoglucomutase 1 deficiency" RELATED [OMIM:614921]
synonym: "phosphoglucomutase deficiency type 1" RELATED [GARD:0004329]
synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646]
synonym: "type 14 glycogenosis" RELATED [GARD:0004329]
xref: GARD:0004329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:319646/attributed", source="ORDO:319646/ntbt", source="Orphanet:319646"}
xref: MESH:C567859 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:614921 {source="MONDO:equivalentTo", source="Orphanet:319646", source="ORDO:319646/e"}
xref: Orphanet:319646 {source="MONDO:equivalentTo", source="OMIM:614921"}
xref: UMLS:C2752015 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:319646"}
is_a: MONDO:0005500 {source="DC-OMIM:614921", source="MONDOLEX:0013968"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:319646"} ! disorder of protein N-glycosylation
is_a: MONDO:0018288 {source="Orphanet:319646"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0018289 {source="Orphanet:319646"} ! congenital disorder of glycosylation with dilated cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554056
property_value: exactMatch http://identifiers.org/mesh/C567859
property_value: exactMatch http://identifiers.org/omim/614921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752015
property_value: exactMatch Orphanet:319646

[Term]
id: MONDO:0013969
name: combined oxidative phosphorylation defect type 11
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:324535"}
synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922]
synonym: "combined oxidative phosphorylation deficiency 11; COXPD11" RELATED [OMIM:614922]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in RMND1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2, OMIM:614922]
synonym: "COXPD11" EXACT [MONDO:Lexical, OMIM:614922, Orphanet:324535]
synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922]
synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:G31.8 {source="Orphanet:324535", source="ORDO:324535/attributed", source="ORDO:324535/ntbt"}
xref: OMIM:614922 {source="ORDO:324535/e", source="Orphanet:324535", source="MONDO:equivalentTo"}
xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"}
xref: UMLS:C3554067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614922"}
is_a: MONDO:0000732 {source="DC-OMIM:614922", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:324535"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:324535"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/614922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554067
property_value: exactMatch Orphanet:324535

[Term]
id: MONDO:0013970
name: branched-chain keto acid dehydrogenase kinase deficiency
def: "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." [Orphanet:308410]
subset: ordo_disease {source="Orphanet:308410"}
synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [DOID:0090126]
synonym: "BCKDK deficiency" EXACT [DOID:0090126]
synonym: "Bckdk deficiency" RELATED [OMIM:614923]
synonym: "BCKDKD" EXACT [DOID:0090126, MONDO:Lexical, OMIM:614923]
synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT [MONDO:Lexical, OMIM:614923]
synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD" RELATED [OMIM:614923]
xref: DOID:0090126 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:308410/attributed", source="ORDO:308410/ntbt", source="DOID:0090126", source="Orphanet:308410"}
xref: OMIM:614923 {source="MONDO:equivalentTo", source="DOID:0090126", source="ORDO:308410/e", source="Orphanet:308410"}
xref: Orphanet:308410 {source="MONDO:equivalentTo", source="DOID:0090126", source="OMIM:614923"}
xref: UMLS:C3554078 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614923"}
is_a: MONDO:0006025 {source="DOID:0090126", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016399 {source="Orphanet:308410"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019242 {source="Orphanet:308410"} ! inborn disorder of branched-chain amino acid metabolism
property_value: exactMatch DOID:0090126
property_value: exactMatch http://identifiers.org/omim/614923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554078
property_value: exactMatch Orphanet:308410

[Term]
id: MONDO:0013971
name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
def: "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." [Orphanet:314051]
subset: ordo_disease {source="Orphanet:314051"}
synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051]
synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924]
synonym: "combined oxidative phosphorylation deficiency 12; COXPD12" RELATED [OMIM:614924]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in EARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2, OMIM:614924]
synonym: "COXPD12" EXACT [MONDO:Lexical, OMIM:614924, Orphanet:314051]
synonym: "EARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [OMIM:614924]
synonym: "LTBL" EXACT [Orphanet:314051]
xref: GARD:0013381 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: OMIM:614924 {source="MONDO:equivalentTo", source="ORDO:314051/e", source="Orphanet:314051"}
xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"}
xref: SCTID:763366000 {source="MONDO:equivalentTo"}
xref: UMLS:C3554079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614924"}
is_a: MONDO:0000732 {source="DC-OMIM:614924", source="MONDO:Redundant", source="OMIM:614924"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:314051"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/614924
property_value: exactMatch http://identifiers.org/snomedct/763366000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554079
property_value: exactMatch Orphanet:314051

[Term]
id: MONDO:0013972
name: Perrault syndrome 2
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Perrault syndrome 2" EXACT [MONDO:Lexical, OMIM:614926]
synonym: "Perrault syndrome 2; PRLTS2" RELATED [OMIM:614926]
synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926]
synonym: "PRLTS2" RELATED [MONDO:Lexical, OMIM:614926]
xref: OMIM:614926 {source="MONDO:equivalentTo"}
xref: UMLS:C3554105 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614926"}
is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926"} ! Perrault syndrome
property_value: exactMatch http://identifiers.org/omim/614926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554105

[Term]
id: MONDO:0013973
name: ECTD5
synonym: "ECTD5" EXACT [MONDO:Lexical, OMIM:614927]
synonym: "ectodermal dysplasia 5, hair/nail type" RELATED [MONDO:Lexical, OMIM:614927]
synonym: "ectodermal dysplasia 5, hair/nail type; ECTD5" RELATED [OMIM:614927]
xref: OMIM:614927 {source="MONDO:equivalentTo"}
xref: UMLS:C3554108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614927"}
is_a: MONDO:0019287 {source="DC-OMIM:614927", source="MONDOLEX:0013973", source="OMIM:614927"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/omim/614927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554108

[Term]
id: MONDO:0013974
name: ECTD6
synonym: "ECTD6" EXACT [MONDO:Lexical, OMIM:614928]
synonym: "ectodermal dysplasia 6, hair/nail type" RELATED [MONDO:Lexical, OMIM:614928]
synonym: "ectodermal dysplasia 6, hair/nail type; ECTD6" RELATED [OMIM:614928]
xref: OMIM:614928 {source="MONDO:equivalentTo"}
xref: UMLS:C3554111 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614928"}
is_a: MONDO:0019071 {source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554111

[Term]
id: MONDO:0013975
name: ectodermal dysplasia 7, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ECTD7" RELATED [MONDO:Lexical, OMIM:614929]
synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [MONDO:Lexical, OMIM:614929]
synonym: "ectodermal dysplasia 7, hair/nail type; ECTD7" RELATED [OMIM:614929]
synonym: "KRT74 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT74" EXACT [MONDO:design_pattern]
xref: OMIM:614929 {source="MONDO:equivalentTo"}
xref: UMLS:C3554117 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614929"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554117

[Term]
id: MONDO:0013976
name: ectodermal dysplasia 9, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ECTD9" RELATED [MONDO:Lexical, OMIM:614931]
synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [MONDO:Lexical, OMIM:614931]
synonym: "ectodermal dysplasia 9, hair/nail type; ECTD9" RELATED [OMIM:614931]
synonym: "HOXC13 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13" EXACT [MONDO:design_pattern]
xref: OMIM:614931 {source="MONDO:equivalentTo"}
xref: UMLS:C3554127 {source="OMIM:614931", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614931
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554127

[Term]
id: MONDO:0013977
name: combined oxidative phosphorylation defect type 13
def: "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." [Orphanet:319514]
subset: ordo_disease {source="Orphanet:319514"}
synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932]
synonym: "combined oxidative phosphorylation deficiency 13; COXPD13" RELATED [OMIM:614932]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2, OMIM:614932]
synonym: "COXPD13" EXACT [MONDO:Lexical, OMIM:614932, Orphanet:319514]
synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:G71.3 {source="ORDO:319514/attributed", source="ORDO:319514/ntbt", source="Orphanet:319514"}
xref: OMIM:614932 {source="MONDO:equivalentTo", source="Orphanet:319514", source="ORDO:319514/e"}
xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"}
xref: SCTID:763110007 {source="MONDO:equivalentTo"}
xref: UMLS:C3554129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614932"}
is_a: MONDO:0000732 {source="DC-OMIM:614932", source="MONDO:Redundant", source="OMIM:614932"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:319514"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614932
property_value: exactMatch http://identifiers.org/snomedct/763110007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554129
property_value: exactMatch Orphanet:319514

[Term]
id: MONDO:0013978
name: autosomal recessive nonsyndromic deafness 70
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 70" EXACT [DOID:0110521]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 70" EXACT [DOID:0110521, MONDORULE:2]
synonym: "deafness, autosomal recessive 70" RELATED [MONDO:Lexical, OMIM:614934]
synonym: "deafness, autosomal recessive 70; DFNB70" RELATED [OMIM:614934]
synonym: "deafness, autosomal recessive type 70" EXACT [MONDORULE:2, OMIM:614934]
synonym: "DFNB70" EXACT [DOID:0110521, MONDO:Lexical, OMIM:614934]
synonym: "PNPT1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110521 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110521"}
xref: OMIM:614934 {source="MONDO:equivalentTo", source="DOID:0110521"}
xref: UMLS:C1824925 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614934"}
is_a: MONDO:0019588 {source="DC-OMIM:614934", source="DOID:0110521", source="MONDO:Redundant", source="OMIM:614934"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110521
property_value: exactMatch http://identifiers.org/omim/614934
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1824925

[Term]
id: MONDO:0013979
name: primary ciliary dyskinesia 19
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD19" EXACT [DOID:0110608, MONDO:Lexical, OMIM:614935]
synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical, OMIM:614935]
synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [OMIM:614935]
synonym: "ciliary dyskinesia, primary, 19; CILD19" RELATED [OMIM:614935]
synonym: "ciliary dyskinesia, primary, type 19" EXACT [MONDORULE:2, OMIM:614935]
synonym: "LRRC6 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [DOID:0110608]
synonym: "primary ciliary dyskinesia caused by mutation in LRRC6" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 19" EXACT [DOID:0110608, MONDORULE:2]
xref: DOID:0110608 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110608"}
xref: OMIM:614935 {source="MONDO:equivalentTo", source="DOID:0110608"}
xref: UMLS:C3543826 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614935"}
is_a: MONDO:0016575 {source="DC-OMIM:614935", source="DOID:0110608", source="MONDO:Redundant", source="MONDOLEX:0013979", source="OMIM:614935"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110608
property_value: exactMatch http://identifiers.org/omim/614935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3543826

[Term]
id: MONDO:0013980
name: PPKP1B
synonym: "palmoplantar keratoderma, punctate type IB" RELATED [MONDO:Lexical, OMIM:614936]
synonym: "palmoplantar keratoderma, punctate type IB; PPKP1B" RELATED [OMIM:614936]
synonym: "PPKP1B" EXACT [MONDO:Lexical, OMIM:614936]
xref: OMIM:614936 {source="MONDO:equivalentTo"}
xref: UMLS:C3554145 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614936"}
is_a: MONDO:0019332 {source="ORDO:79501/btnt"} ! punctate palmoplantar keratoderma type 1
property_value: exactMatch http://identifiers.org/omim/614936
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554145

[Term]
id: MONDO:0013981
name: familial cortical myoclonus
def: "Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." [Orphanet:319189]
subset: ordo_disease {source="Orphanet:319189"}
synonym: "familial myoclonus" EXACT [OMIM:PS614937]
synonym: "FCM" RELATED [MONDO:Lexical, OMIM:614937]
synonym: "myoclonus, familial cortical" RELATED [MONDO:Lexical, OMIM:614937]
synonym: "myoclonus, familial cortical; FCM" RELATED [OMIM:614937]
xref: ICD10:G25.3 {source="ORDO:319189/attributed", source="ORDO:319189/ntbt", source="Orphanet:319189"}
xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="ORDO:319189/e"}
xref: Orphanet:319189 {source="MONDO:equivalentTo", source="OMIM:614937"}
xref: SCTID:763770005 {source="MONDO:equivalentTo"}
xref: UMLS:C3539916 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614937"}
is_a: MONDO:0017651 {source="Orphanet:319189"} ! primary myoclonus
property_value: exactMatch http://identifiers.org/snomedct/763770005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539916
property_value: exactMatch Orphanet:319189

[Term]
id: MONDO:0013982
name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
synonym: "ECTD11A" RELATED [MONDO:Lexical, OMIM:614940]
synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614940]
synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; ECTD11A" RELATED [OMIM:614940]
synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:614940]
xref: OMIM:614940 {source="MONDO:equivalentTo"}
xref: UMLS:C3541517 {source="OMIM:614940", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015884 {source="ORDO:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614940
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3541517

[Term]
id: MONDO:0013983
name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
synonym: "ECTD11B" RELATED [MONDO:Lexical, OMIM:614941]
synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614941]
synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD11B" RELATED [OMIM:614941]
synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:614941]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:614941]
xref: OMIM:614941 {source="MONDO:equivalentTo"}
xref: UMLS:C3539920 {source="NCBI:mim2gene_medline", source="OMIM:614941", source="MONDO:equivalentTo"}
is_a: MONDO:0016619 {source="ORDO:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539920

[Term]
id: MONDO:0013984
name: autosomal recessive nonsyndromic deafness 84B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 84B" EXACT [DOID:0110530]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 84B" EXACT [DOID:0110530, MONDORULE:4]
synonym: "deafness, autosomal recessive 84B" RELATED [MONDO:Lexical, OMIM:614944]
synonym: "deafness, autosomal recessive 84B; DFNB84B" RELATED [OMIM:614944]
synonym: "deafness, autosomal recessive type 84B" EXACT [MONDORULE:4, OMIM:614944]
synonym: "DFNB84B" EXACT [DOID:0110530, MONDO:Lexical, OMIM:614944]
synonym: "OTOGL autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110530 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110530"}
xref: OMIM:614944 {source="MONDO:equivalentTo", source="DOID:0110530"}
xref: UMLS:C3554159 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614944"}
is_a: MONDO:0019588 {source="DC-OMIM:614944", source="DOID:0110530", source="MONDO:Redundant", source="OMIM:614944"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110530
property_value: exactMatch http://identifiers.org/omim/614944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554159

[Term]
id: MONDO:0013985
name: autosomal recessive nonsyndromic deafness 18B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 18B" EXACT [DOID:0110474]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 18B" EXACT [DOID:0110474, MONDORULE:4]
synonym: "deafness, autosomal recessive 18B" RELATED [MONDO:Lexical, OMIM:614945]
synonym: "deafness, autosomal recessive 18B; DFNB18B" RELATED [OMIM:614945]
synonym: "deafness, autosomal recessive type 18B" EXACT [MONDORULE:4, OMIM:614945]
synonym: "DFNB18B" EXACT [DOID:0110474, MONDO:Lexical, OMIM:614945]
synonym: "OTOG autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110474 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110474"}
xref: OMIM:614945 {source="MONDO:equivalentTo", source="DOID:0110474"}
xref: UMLS:C3554163 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614945"}
is_a: MONDO:0019588 {source="DC-OMIM:614945", source="DOID:0110474", source="MONDO:Redundant", source="OMIM:614945"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110474
property_value: exactMatch http://identifiers.org/omim/614945
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554163

[Term]
id: MONDO:0013986
name: combined oxidative phosphorylation defect type 14
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:319519"}
synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946]
synonym: "combined oxidative phosphorylation deficiency 14; COXPD14" RELATED [OMIM:614946]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2, OMIM:614946]
synonym: "COXPD14" EXACT [MONDO:Lexical, OMIM:614946, Orphanet:319519]
synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="Orphanet:319519", source="ORDO:319519/attributed", source="ORDO:319519/ntbt"}
xref: OMIM:614946 {source="ORDO:319519/e", source="Orphanet:319519", source="MONDO:equivalentTo"}
xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"}
xref: UMLS:C3554168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614946"}
is_a: MONDO:0000732 {source="DC-OMIM:614946", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:319519"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554168
property_value: exactMatch Orphanet:319519

[Term]
id: MONDO:0013987
name: combined oxidative phosphorylation defect type 15
def: "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." [Orphanet:319524]
subset: ordo_disease {source="Orphanet:319524"}
synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947]
synonym: "combined oxidative phosphorylation deficiency 15; COXPD15" RELATED [OMIM:614947]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTFMT" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2, OMIM:614947]
synonym: "COXPD15" EXACT [MONDO:Lexical, OMIM:614947, Orphanet:319524]
synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:G31.8 {source="ORDO:319524/attributed", source="ORDO:319524/ntbt", source="Orphanet:319524"}
xref: OMIM:614947 {source="MONDO:equivalentTo", source="ORDO:319524/e", source="Orphanet:319524"}
xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"}
xref: SCTID:763203009 {source="MONDO:equivalentTo"}
xref: UMLS:C3554182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614947"}
is_a: MONDO:0000732 {source="DC-OMIM:614947", source="MONDO:Redundant", source="OMIM:614947"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="Orphanet:319524"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/614947
property_value: exactMatch http://identifiers.org/snomedct/763203009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554182
property_value: exactMatch Orphanet:319524

[Term]
id: MONDO:0013988
name: CHTD3
synonym: "CHTD3" EXACT [MONDO:Lexical, OMIM:614954]
synonym: "congenital heart defects, multiple types, 3" RELATED [MONDO:Lexical, OMIM:614954]
synonym: "congenital heart defects, multiple types, 3; CHTD3" RELATED [OMIM:614954]
synonym: "congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances" RELATED [OMIM:614954]
xref: OMIM:614954 {source="MONDO:equivalentTo"}
xref: UMLS:C3554194 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614954"}
is_a: MONDO:0000119 {source="DC-OMIM:614954", source="MONDOLEX:0013988"} ! congenital heart defects, multiple types
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/614954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554194

[Term]
id: MONDO:0013989
name: epileptic encephalopathy, early infantile, 14
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern]
synonym: "EIEE14" RELATED [MONDO:Lexical, OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, 14; EIEE14" RELATED [OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959]
synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614959 {source="MONDO:equivalentTo"}
xref: UMLS:C3554195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614959"}
is_a: MONDO:0016021 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/614959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554195

[Term]
id: MONDO:0013990
name: pontocerebellar hypoplasia type 8
def: "gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." [Orphanet:324569]
subset: ordo_malformation_syndrome {source="Orphanet:324569"}
synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern]
synonym: "PCH8" EXACT [MONDO:Lexical, OMIM:614961, Orphanet:324569]
synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324569]
synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961]
synonym: "pontocerebellar hypoplasia, type 8; PCH8" RELATED [OMIM:614961]
xref: DOID:0060277 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="DOID:0060277", source="Orphanet:324569", source="ORDO:324569/attributed", source="ORDO:324569/ntbt"}
xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="ORDO:324569/e", source="MONDO:equivalentTo"}
xref: Orphanet:324569 {source="DOID:0060277", source="OMIM:614961", source="MONDO:equivalentTo"}
xref: SCTID:718611007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.13"}
xref: UMLS:C3554209 {source="OMIM:614961", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="MONDO:Redundant", source="OMIM:614961", source="Orphanet:324569", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060277
property_value: exactMatch http://identifiers.org/omim/614961
property_value: exactMatch http://identifiers.org/snomedct/718611007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554209
property_value: exactMatch Orphanet:324569

[Term]
id: MONDO:0013991
name: obesity due to congenital leptin deficiency
def: "Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia." [Orphanet:66628]
subset: gard_rare {source="GARD:0013015"}
subset: ordo_disease {source="Orphanet:66628"}
synonym: "LEPD" RELATED [MONDO:Lexical, OMIM:614962]
synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical, OMIM:614962]
synonym: "leptin deficiency or dysfunction; LEPD" RELATED [OMIM:614962]
synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962]
xref: GARD:0013015 {source="MONDO:equivalentTo"}
xref: ICD10:E66.8 {source="ORDO:66628/attributed", source="ORDO:66628/ntbt", source="Orphanet:66628"}
xref: OMIM:614962 {source="ORDO:66628/e", source="MONDO:equivalentTo", source="Orphanet:66628"}
xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"}
xref: UMLS:C3554224 {source="OMIM:614962", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015891 {source="Orphanet:66628"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism
is_a: MONDO:0020075 {source="Orphanet:66628"} ! genetic non-syndromic obesity
property_value: exactMatch http://identifiers.org/omim/614962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554224
property_value: exactMatch Orphanet:66628
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency xsd:anyURI {source="GARD:0013015"}

[Term]
id: MONDO:0013992
name: obesity due to leptin receptor gene deficiency
subset: ordo_disease {source="Orphanet:179494"}
synonym: "leptin receptor deficiency" RELATED [OMIM:614963]
synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963]
xref: ICD10:E66.8 {source="ORDO:179494/attributed", source="ORDO:179494/ntbt", source="Orphanet:179494"}
xref: OMIM:614963 {source="MONDO:equivalentTo", source="ORDO:179494/e", source="Orphanet:179494"}
xref: Orphanet:179494 {source="OMIM:614963", source="MONDO:equivalentTo"}
xref: UMLS:C3554225 {source="NCBI:mim2gene_medline", source="OMIM:614963", source="MONDO:equivalentTo"}
is_a: MONDO:0015825 {source="Orphanet:179494"} ! obesity due to congenital leptin resistance
is_a: MONDO:0015891 {source="Orphanet:179494"} ! hypogonadotropic hypogonadism associated with other endocrinopathies
is_a: MONDO:0016553 ! isolated congenital hypogonadotropic hypogonadism
property_value: exactMatch http://identifiers.org/omim/614963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554225
property_value: exactMatch Orphanet:179494

[Term]
id: MONDO:0013993
name: pontocerebellar hypoplasia type 7
def: "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." [Orphanet:284339]
subset: ordo_malformation_syndrome {source="Orphanet:284339"}
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern]
synonym: "PCH7" EXACT [MONDO:Lexical, OMIM:614969, Orphanet:284339]
synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:614969]
synonym: "pontocerebellar hypoplasia, type 7; PCH7" RELATED [OMIM:614969]
synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339]
synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060276 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="DOID:0060276", source="Orphanet:284339", source="ORDO:284339/attributed", source="ORDO:284339/ntbt"}
xref: OMIM:614969 {source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339", source="ORDO:284339/e"}
xref: Orphanet:284339 {source="DOID:0060276", source="MONDO:equivalentTo", source="OMIM:614969"}
xref: SCTID:718605009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.13"}
xref: UMLS:C3554226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614969"}
is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="MONDO:Redundant", source="OMIM:614969", source="Orphanet:284339", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060276
property_value: exactMatch http://identifiers.org/omim/614969
property_value: exactMatch http://identifiers.org/snomedct/718605009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554226
property_value: exactMatch Orphanet:284339

[Term]
id: MONDO:0013994
name: Joubert syndrome 20
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS20" EXACT [DOID:0110989, MONDO:Lexical, OMIM:614970]
synonym: "Joubert syndrome 20" EXACT [MONDO:Lexical, OMIM:614970]
synonym: "Joubert syndrome 20; JBTS20" RELATED [OMIM:614970]
synonym: "Joubert syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 20" EXACT [DOID:0110989, MONDORULE:2, OMIM:614970]
synonym: "TMEM231 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110989 {source="MONDO:equivalentTo"}
xref: OMIM:614970 {source="DOID:0110989", source="MONDO:equivalentTo"}
xref: UMLS:C3554235 {source="OMIM:614970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:614970", source="DOID:0110989", source="MONDO:Redundant", source="OMIM:614970"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110989
property_value: exactMatch http://identifiers.org/omim/614970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554235

[Term]
id: MONDO:0013995
name: cholestasis, intrahepatic, of pregnancy 3
synonym: "cholestasis, intrahepatic, of pregnancy 3" EXACT [MONDO:Lexical, OMIM:614972]
synonym: "cholestasis, intrahepatic, of pregnancy 3; ICP3" RELATED [OMIM:614972]
synonym: "cholestasis, intrahepatic, of pregnancy type 3" EXACT [MONDORULE:1, OMIM:614972]
synonym: "ICP3" RELATED [MONDO:Lexical, OMIM:614972]
xref: DOID:0070229 {source="MONDO:equivalentTo"}
xref: EFO:0009150 {source="MONDO:equivalentTo"}
xref: OMIM:614972 {source="MONDO:equivalentTo"}
xref: UMLS:C3554241 {source="OMIM:614972", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019072 {source="MONDOLEX:0013995", source="ORDO:69665/btnt"} ! intrahepatic cholestasis
property_value: exactMatch DOID:0070229
property_value: exactMatch http://identifiers.org/omim/614972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554241

[Term]
id: MONDO:0013996
name: focal facial dermal dysplasia type II
def: "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." [Orphanet:398173]
subset: ordo_clinical_subtype {source="Orphanet:398173"}
synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973]
synonym: "FFDD type II" EXACT [Orphanet:398173]
synonym: "FFDD2" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173]
synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173]
synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type; FFDD2" RELATED [OMIM:614973]
xref: ICD10:Q82.8 {source="Orphanet:398173", source="ORDO:398173/attributed", source="ORDO:398173/ntbt"}
xref: OMIM:614973 {source="MONDO:equivalentTo", source="Orphanet:398173", source="ORDO:398173/e"}
xref: Orphanet:398173 {source="OMIM:614973", source="MONDO:equivalentTo"}
xref: UMLS:C3554245 {source="OMIM:614973", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009203 {source="MONDOLEX:0013996"} ! focal facial dermal dysplasia type III
property_value: exactMatch http://identifiers.org/omim/614973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554245
property_value: exactMatch Orphanet:398173

[Term]
id: MONDO:0013997
name: focal facial dermal dysplasia type IV
def: "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." [Orphanet:398189]
subset: ordo_clinical_subtype {source="Orphanet:398189"}
synonym: "FFDD type IV" EXACT [Orphanet:398189]
synonym: "FFDD4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189]
synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189]
synonym: "focal facial dermal dysplasia 4; FFDD4" RELATED [OMIM:614974]
synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974]
synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189]
xref: ICD10:Q82.8 {source="Orphanet:398189", source="ORDO:398189/attributed", source="ORDO:398189/ntbt"}
xref: OMIM:614974 {source="ORDO:398189/e", source="Orphanet:398189", source="MONDO:equivalentTo"}
xref: Orphanet:398189 {source="OMIM:614974", source="MONDO:equivalentTo"}
xref: UMLS:C3554246 {source="NCBI:mim2gene_medline", source="OMIM:614974", source="MONDO:equivalentTo"}
is_a: MONDO:0018363 {source="DC-OMIM:614974", source="OMIM:614974", source="Orphanet:398189"} ! focal facial dermal dysplasia
property_value: exactMatch http://identifiers.org/omim/614974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554246
property_value: exactMatch Orphanet:398189

[Term]
id: MONDO:0013998
name: Carpenter syndrome 2
def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:614976]
synonym: "CARPENTER syndrome 2; CRPT2" RELATED [OMIM:614976]
synonym: "Carpenter syndrome caused by mutation in MEGF8" EXACT [MONDO:design_pattern]
synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:614976]
synonym: "CRPT2" RELATED [MONDO:Lexical, OMIM:614976]
synonym: "MEGF8 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614976 {source="MONDO:equivalentTo"}
xref: UMLS:C3554247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614976"}
is_a: MONDO:0019012 {source="DC-OMIM:614976", source="MONDO:Redundant", source="MONDOLEX:0013998", source="OMIM:614976"} ! Carpenter syndrome
property_value: exactMatch http://identifiers.org/omim/614976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554247

[Term]
id: MONDO:0013999
name: optic nerve edema-splenomegaly syndrome
def: "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." [Orphanet:313800]
subset: ordo_disease {source="Orphanet:313800"}
synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979]
xref: OMIM:614979 {source="Orphanet:313800", source="ORDO:313800/e", source="MONDO:equivalentTo"}
xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"}
xref: UMLS:C3554278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614979"}
is_a: MONDO:0020249 {source="Orphanet:313800"} ! hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/omim/614979
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554278
property_value: exactMatch Orphanet:313800

[Term]
id: MONDO:0014000
name: congenital heart defects, multiple types, 2
def: "Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHTD2" RELATED [MONDO:Lexical, OMIM:614980]
synonym: "congenital heart defects, multiple types, 2" EXACT [MONDO:Lexical, OMIM:614980]
synonym: "congenital heart defects, multiple types, 2; CHTD2" RELATED [OMIM:614980]
synonym: "congenital heart malformation caused by mutation in TAB2" EXACT [MONDO:design_pattern]
synonym: "TAB2 congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:614980 {source="MONDO:equivalentTo"}
xref: UMLS:C3554279 {source="MONDO:equivalentTo", source="OMIM:614980"}
is_a: MONDO:0000119 {source="DC-OMIM:614980", source="MONDOLEX:0014000"} ! congenital heart defects, multiple types
is_a: MONDO:0019512 {source="MONDO:Redundant"} ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150216
property_value: exactMatch http://identifiers.org/omim/614980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554279

[Term]
id: MONDO:0014001
name: Usher syndrome type 1K
def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1." [DOID:0110837, PMID:22718019]
synonym: "USH1K" EXACT [DOID:0110837, MONDO:Lexical, OMIM:614990]
synonym: "Usher syndrome type IK" EXACT [DOID:0110837]
synonym: "USHER syndrome, type IK" RELATED [MONDO:Lexical, OMIM:614990]
synonym: "USHER syndrome, type IK; USH1K" RELATED [OMIM:614990]
xref: DOID:0110837 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110837"}
xref: OMIM:614990 {source="DOID:0110837", source="MONDO:equivalentTo"}
xref: UMLS:C3539124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614990"}
is_a: MONDO:0010168 {source="DOID:0110837", source="MONDOLEX:0014001"} ! Usher syndrome type 1
property_value: exactMatch DOID:0110837
property_value: exactMatch http://identifiers.org/omim/614990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539124

[Term]
id: MONDO:0014002
name: autosomal dominant nocturnal frontal lobe epilepsy 5
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1]
synonym: "ENFL5" EXACT [DOID:0060686, MONDO:Lexical, OMIM:615005]
synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical, OMIM:615005]
synonym: "epilepsy, nocturnal frontal lobe, 5; ENFL5" RELATED [OMIM:615005]
synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615005]
synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686]
xref: DOID:0060686 {source="MONDO:equivalentTo"}
xref: OMIM:615005 {source="DOID:0060686", source="MONDO:equivalentTo"}
xref: UMLS:C3554306 {source="OMIM:615005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000030 {source="DC-OMIM:615005", source="OMIM:615005"} ! epilepsy, nocturnal frontal lobe
is_a: MONDO:0020300 {source="DOID:0060686", source="MONDO:Redundant", source="MONDOLEX:0014002"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: exactMatch DOID:0060686
property_value: exactMatch http://identifiers.org/omim/615005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554306

[Term]
id: MONDO:0014003
name: epileptic encephalopathy, early infantile, 15
synonym: "EIEE15" RELATED [MONDO:Lexical, OMIM:615006]
synonym: "epileptic encephalopathy, early infantile, 15" EXACT [MONDO:Lexical, OMIM:615006]
synonym: "epileptic encephalopathy, early infantile, 15; EIEE15" RELATED [OMIM:615006]
synonym: "epileptic encephalopathy, early infantile, type 15" EXACT [MONDORULE:2, OMIM:615006]
xref: OMIM:615006 {source="MONDO:equivalentTo"}
xref: UMLS:C3554316 {source="OMIM:615006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:615006", source="OMIM:615006"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/615006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554316

[Term]
id: MONDO:0014004
name: basal ganglia calcification, idiopathic, 4
synonym: "basal ganglia calcification, idiopathic, 4" EXACT [MONDO:Lexical, OMIM:615007]
synonym: "basal ganglia calcification, idiopathic, 4; IBGC4" RELATED [OMIM:615007]
synonym: "basal ganglia calcification, idiopathic, type 4" EXACT [MONDORULE:1, OMIM:615007]
synonym: "IBGC4" RELATED [MONDO:Lexical, OMIM:615007]
xref: OMIM:615007 {source="MONDO:equivalentTo"}
xref: UMLS:C3554321 {source="NCBI:mim2gene_medline", source="OMIM:615007", source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615007", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/omim/615007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554321

[Term]
id: MONDO:0014005
name: immunoglobulin-mediated membranoproliferative glomerulonephritis
def: "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." [NCIT:C123055]
subset: ordo_clinical_subtype {source="Orphanet:329903"}
subset: predisposition
synonym: "Ahus, susceptibility to, 7" RELATED [OMIM:615008]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 7" RELATED [OMIM:615008]
synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329903]
synonym: "Ig-mediated MPGN" EXACT [Orphanet:329903]
synonym: "immune Complex mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123055]
synonym: "Immunoglobulin-mediated MPGN" EXACT [Orphanet:329903]
synonym: "membranoproliferative glomerulonephritis type I" EXACT [NCIT:C123055]
synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055]
synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008]
synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008]
synonym: "nephrotic syndrome, type 7; NPHS7" RELATED [OMIM:615008]
synonym: "NPHS7" RELATED [MONDO:Lexical, OMIM:615008]
xref: ICD10:N00.5 {source="Orphanet:329903", source="ORDO:329903/attributed", source="ORDO:329903/ntbt"}
xref: NCIT:C123055 {source="MONDO:equivalentTo"}
xref: OMIM:615008 {source="ORDO:329903/e", source="Orphanet:329903", source="MONDO:equivalentTo"}
xref: Orphanet:329903 {source="OMIM:615008", source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome
is_a: MONDO:0005334 ! hereditary nephritis
is_a: MONDO:0016244 {source="MONDOLEX:0014005", source="ORDO:2134/btnt"} ! atypical hemolytic-uremic syndrome
is_a: MONDO:0018904 {source="MONDOLEX:0014005", source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554330
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808619
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808620
property_value: exactMatch http://identifiers.org/omim/615008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268742
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720821
property_value: exactMatch NCIT:C123055
property_value: exactMatch Orphanet:329903

[Term]
id: MONDO:0014006
name: Schuurs-Hoeijmakers syndrome
def: "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." [Orphanet:329224]
subset: ordo_malformation_syndrome {source="Orphanet:329224"}
synonym: "autosomal dominant intellectual disability-17" RELATED [GARD:0013043]
synonym: "autosomal dominant mental retardation 17" EXACT [DOID:0070047]
synonym: "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/1443, PMID:23159249, PMID:25522177, PMID:26842493, PMID:28111752, PMID:28975623, PMID:30113927]
synonym: "mental retardation, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:615009]
synonym: "mental retardation, autosomal dominant 17; MRD17" RELATED [OMIM:615009]
synonym: "mental retardation, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:615009]
synonym: "MRD17" EXACT [DOID:0070047, MONDO:Lexical, OMIM:615009]
synonym: "PACS1-related syndrome" RELATED [GARD:0013043]
synonym: "Schuurs-Hoeijmakers syndrome" EXACT [OMIM:615009]
synonym: "Schuurs-Hoeijmakers syndrome; SHMS" RELATED [OMIM:615009]
synonym: "SHMS" EXACT [DOID:0070047]
xref: DOID:0070047 {source="MONDO:equivalentTo"}
xref: GARD:0013043 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: NCIT:C150555 {source="MONDO:equivalentTo"}
xref: OMIM:615009 {source="DOID:0070047", source="MONDO:equivalentTo", source="ORDO:329224/e", source="Orphanet:329224"}
xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"}
xref: UMLS:C3554343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615009"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329224", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:329224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070047"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070047
property_value: exactMatch http://identifiers.org/omim/615009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554343
property_value: exactMatch NCIT:C150555
property_value: exactMatch Orphanet:329224

[Term]
id: MONDO:0014007
name: Aicardi-Goutieres syndrome 6
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADAR Aicardi-Goutieres syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Adar Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern]
synonym: "AGS6" RELATED [MONDO:Lexical, OMIM:615010]
synonym: "Aicardi-Goutieres syndrome 6" EXACT [MONDO:Lexical, OMIM:615010]
synonym: "Aicardi-Goutieres syndrome 6; AGS6" RELATED [OMIM:615010]
synonym: "Aicardi-Goutieres syndrome caused by mutation in ADAR" EXACT []
synonym: "Aicardi-Goutieres syndrome caused by mutation in Adar" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1, OMIM:615010]
xref: OMIM:615010 {source="MONDO:equivalentTo"}
xref: UMLS:C3539013 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615010"}
is_a: MONDO:0018866 {source="DC-OMIM:615010", source="MONDO:Redundant", source="OMIM:615010"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/omim/615010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539013

[Term]
id: MONDO:0014008
name: phosphohydroxylysinuria
synonym: "PHLU" RELATED [MONDO:Lexical, OMIM:615011]
synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011]
synonym: "PHOSPHOHYDROXYLYSINURIA; PHLU" RELATED [OMIM:615011]
xref: OMIM:615011 {source="MONDO:equivalentTo"}
xref: UMLS:C3554344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615011"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554344

[Term]
id: MONDO:0014009
name: autosomal recessive congenital ichthyosis 7
def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1." [DOID:0060716, PMID:16117785]
synonym: "ARCI7" EXACT [DOID:0060716, MONDO:Lexical, OMIM:615022]
synonym: "autosomal recessive congenital ichthyosis type 7" EXACT [DOID:0060716, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:615022]
synonym: "ichthyosis, congenital, autosomal recessive 7; ARCI7" RELATED [OMIM:615022]
xref: DOID:0060716 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060716"}
xref: OMIM:615022 {source="MONDO:equivalentTo", source="DOID:0060716"}
xref: UMLS:C3554348 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615022"}
is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
property_value: exactMatch DOID:0060716
property_value: exactMatch http://identifiers.org/omim/615022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554348

[Term]
id: MONDO:0014010
name: autosomal recessive congenital ichthyosis 9
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI9" EXACT [DOID:0060718, MONDO:Lexical, OMIM:615023]
synonym: "autosomal recessive congenital ichthyosis type 9" EXACT [DOID:0060718, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:615023]
synonym: "ichthyosis, congenital, autosomal recessive 9; ARCI9" RELATED [OMIM:615023]
synonym: "ichthyosis, congenital, autosomal recessive type 9" EXACT [MONDORULE:1, OMIM:615023]
xref: DOID:0060718 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060718"}
xref: OMIM:615023 {source="MONDO:equivalentTo", source="DOID:0060718"}
xref: UMLS:C3554349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615023"}
is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
property_value: exactMatch DOID:0060718
property_value: exactMatch http://identifiers.org/omim/615023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554349

[Term]
id: MONDO:0014011
name: autosomal recessive congenital ichthyosis 10
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI10" EXACT [DOID:0060719, MONDO:Lexical, OMIM:615024]
synonym: "autosomal recessive congenital ichthyosis type 10" EXACT [DOID:0060719, MONDORULE:2]
synonym: "ichthyosis, congenital, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:615024]
synonym: "ichthyosis, congenital, autosomal recessive 10; ARCI10" RELATED [OMIM:615024]
synonym: "ichthyosis, congenital, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:615024]
xref: DOID:0060719 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="DOID:0060719"}
xref: OMIM:615024 {source="DOID:0060719", source="MONDO:equivalentTo"}
xref: UMLS:C3554355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615024"}
is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
property_value: exactMatch DOID:0060719
property_value: exactMatch http://identifiers.org/omim/615024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554355

[Term]
id: MONDO:0014012
name: Charcot-Marie-Tooth disease axonal type 2Q
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." [Orphanet:329258]
subset: ordo_disease {source="Orphanet:329258"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DHTKD1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2Q" RELATED [GARD:0012446]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [OMIM:615025]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical, OMIM:615025]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q" RELATED [OMIM:615025]
synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [DOID:0110170]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025]
synonym: "CMT2Q" EXACT [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258]
synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110170 {source="MONDO:equivalentTo"}
xref: GARD:0012446 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="DOID:0110170", source="Orphanet:329258", source="ORDO:329258/attributed", source="ORDO:329258/ntbt"}
xref: OMIM:615025 {source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258", source="ORDO:329258/e"}
xref: Orphanet:329258 {source="OMIM:615025", source="DOID:0110170", source="MONDO:equivalentTo"}
xref: UMLS:C3554366 {source="OMIM:615025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110170", source="Orphanet:329258"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110170
property_value: exactMatch http://identifiers.org/omim/615025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554366
property_value: exactMatch Orphanet:329258

[Term]
id: MONDO:0014013
name: maternal riboflavin deficiency
subset: ordo_disease {source="Orphanet:411712"}
synonym: "RBFVD" RELATED [MONDO:Lexical, OMIM:615026]
synonym: "riboflavin deficiency" RELATED [MONDO:Lexical, OMIM:615026]
synonym: "riboflavin deficiency; RBFVD" RELATED [OMIM:615026]
xref: ICD10:P00.4 {source="ORDO:411712/attributed", source="ORDO:411712/ntbt", source="Orphanet:411712"}
xref: OMIM:615026 {source="ORDO:411712/e", source="MONDO:equivalentTo", source="Orphanet:411712"}
xref: Orphanet:411712 {source="OMIM:615026", source="MONDO:equivalentTo"}
is_a: MONDO:0017760 {source="Orphanet:411712"} ! disorder of other vitamins and cofactors metabolism and transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035528
property_value: exactMatch http://identifiers.org/omim/615026
property_value: exactMatch Orphanet:411712

[Term]
id: MONDO:0014014
name: epidermolysis bullosa simplex due to exophilin 5 deficiency
subset: ordo_disease {source="Orphanet:412189"}
synonym: "EBNS" RELATED [MONDO:Lexical, OMIM:615028]
synonym: "EBS-AR exophilin 5" EXACT [Orphanet:412189]
synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615028]
synonym: "epidermolysis bullosa, nonspecific, autosomal recessive; EBNS" RELATED [OMIM:615028]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:412189/attributed", source="ORDO:412189/ntbt", source="Orphanet:412189"}
xref: OMIM:615028 {source="MONDO:equivalentTo", source="Orphanet:412189", source="ORDO:412189/e"}
xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"}
xref: UMLS:C3554367 {source="OMIM:615028", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015551 {source="Orphanet:412189"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/omim/615028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554367
property_value: exactMatch Orphanet:412189

[Term]
id: MONDO:0014015
name: hereditary spastic paraplegia 56
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:320411"}
synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808]
synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808]
synonym: "CYP2U1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in CYP2U1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE:2]
synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030]
synonym: "spastic paraplegia 56, autosomal recessive; SPG56" RELATED [OMIM:615030]
synonym: "SPG56" EXACT [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411]
xref: DOID:0110808 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320411", source="ORDO:320411/attributed", source="ORDO:320411/ntbt", source="DOID:0110808"}
xref: OMIM:615030 {source="Orphanet:320411", source="ORDO:320411/e", source="MONDO:equivalentTo", source="DOID:0110808"}
xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", source="OMIM:615030"}
xref: UMLS:C3539507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615030"}
is_a: MONDO:0017915 {source="Orphanet:320411"} ! pure or complex autosomal recessive spastic paraplegia
property_value: exactMatch DOID:0110808
property_value: exactMatch http://identifiers.org/omim/615030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539507
property_value: exactMatch Orphanet:320411

[Term]
id: MONDO:0014016
name: hereditary spastic paraplegia 49
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:320385"}
synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801]
synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801]
synonym: "hereditary spastic paraplegia caused by mutation in TECPR2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 49" EXACT [DOID:0110801, MONDORULE:2]
synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615031]
synonym: "spastic paraplegia 49, autosomal recessive; SPG49" RELATED [OMIM:615031]
synonym: "SPG49" EXACT [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385]
synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110801 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320385", source="DOID:0110801", source="ORDO:320385/attributed", source="ORDO:320385/ntbt"}
xref: OMIM:615031 {source="Orphanet:320385", source="ORDO:320385/e", source="DOID:0110801", source="MONDO:equivalentTo"}
xref: Orphanet:320385 {source="DOID:0110801", source="MONDO:equivalentTo", source="OMIM:615031"}
xref: UMLS:C3542549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615031"}
is_a: MONDO:0015089 {source="Orphanet:320385"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110801
property_value: exactMatch http://identifiers.org/omim/615031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3542549
property_value: exactMatch Orphanet:320385

[Term]
id: MONDO:0014017
name: autism, susceptibility to, 18
subset: predisposition
synonym: "autism, susceptibility to, 18" EXACT [MONDO:Lexical, OMIM:615032]
synonym: "autism, susceptibility to, 18; AUTS18" RELATED [OMIM:615032]
synonym: "autism, susceptibility to, type 18" EXACT [MONDORULE:2, OMIM:615032]
synonym: "AUTS18" RELATED [MONDO:Lexical, OMIM:615032]
synonym: "susceptibility to autism 18" RELATED [OMIM:615032]
xref: OMIM:615032 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554373
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/615032

[Term]
id: MONDO:0014018
name: hereditary spastic paraplegia 54
def: "gene (8p11.23) encoding phospholipase DDHD2." [Orphanet:320380]
subset: ordo_disease {source="Orphanet:320380"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806]
synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806]
synonym: "DDHD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE:2]
synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033]
synonym: "spastic paraplegia 54, autosomal recessive; SPG54" RELATED [OMIM:615033]
synonym: "SPG54" EXACT [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380]
xref: DOID:0110806 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320380/attributed", source="ORDO:320380/ntbt", source="DOID:0110806", source="Orphanet:320380"}
xref: OMIM:615033 {source="MONDO:equivalentTo", source="DOID:0110806", source="ORDO:320380/e", source="Orphanet:320380"}
xref: Orphanet:320380 {source="MONDO:equivalentTo", source="DOID:0110806", source="OMIM:615033"}
xref: SCTID:723824005 {source="MONDO:equivalentTo"}
xref: UMLS:C3539495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615033"}
xref: UMLS:C4510083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320380"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110806
property_value: exactMatch http://identifiers.org/omim/615033
property_value: exactMatch http://identifiers.org/snomedct/723824005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510083
property_value: exactMatch Orphanet:320380

[Term]
id: MONDO:0014019
name: dystonia 24
def: "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: DO classifies as purely focal
subset: ordo_disease {source="Orphanet:420485"}
synonym: "ANO3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [Orphanet:420485]
synonym: "dystonia 24" EXACT [MONDO:Lexical, OMIM:615034, Orphanet:420485]
synonym: "dystonia 24; DYT24" RELATED [OMIM:615034]
synonym: "dystonia type 24" EXACT [DOID:0090052, MONDORULE:2, OMIM:615034]
synonym: "dystonic disorder caused by mutation in ANO3" EXACT [MONDO:design_pattern]
synonym: "DYT-ANO3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm]
synonym: "DYT24" EXACT [MONDO:Lexical, OMIM:615034, Orphanet:420485]
xref: DOID:0090052 {source="MONDO:equivalentTo"}
xref: EFO:0009040 {source="MONDO:equivalentTo"}
xref: ICD10:G24.8 {source="DOID:0090052", source="Orphanet:420485", source="ORDO:420485/attributed", source="ORDO:420485/ntbt"}
xref: OMIM:615034 {source="DOID:0090052", source="Orphanet:420485", source="ORDO:420485/e", source="MONDO:equivalentTo"}
xref: Orphanet:420485 {source="DOID:0090052", source="MONDO:equivalentTo", source="OMIM:615034"}
xref: UMLS:C3554374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615034"}
is_a: MONDO:0015990 {source="EFO:0009040", source="Orphanet:420485"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090052
property_value: exactMatch http://identifiers.org/omim/615034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554374
property_value: exactMatch Orphanet:420485

[Term]
id: MONDO:0014020
name: hereditary spastic paraplegia 55
subset: ordo_disease {source="Orphanet:320375"}
synonym: "autosomal recessive spastic paraplegia 55" EXACT [DOID:0110807]
synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807]
synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE:2]
synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035]
synonym: "spastic paraplegia 55, autosomal recessive; SPG55" RELATED [OMIM:615035]
synonym: "SPG55" EXACT [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375]
xref: DOID:0110807 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320375", source="DOID:0110807", source="ORDO:320375/attributed", source="ORDO:320375/ntbt"}
xref: OMIM:615035 {source="ORDO:320375/e", source="Orphanet:320375", source="MONDO:equivalentTo", source="DOID:0110807"}
xref: Orphanet:320375 {source="MONDO:equivalentTo", source="DOID:0110807", source="OMIM:615035"}
xref: SCTID:723825006 {source="MONDO:equivalentTo"}
xref: UMLS:C3539506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615035"}
xref: UMLS:C4510214 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015089 {source="Orphanet:320375", source="Orphanet:320375/inferred"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0044655 ! c12orf65-related combined oxidative phosphorylation defect
property_value: exactMatch DOID:0110807
property_value: exactMatch http://identifiers.org/omim/615035
property_value: exactMatch http://identifiers.org/snomedct/723825006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3539506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510214
property_value: exactMatch Orphanet:320375

[Term]
id: MONDO:0014021
name: familial episodic pain syndrome with predominantly upper body involvement
subset: ordo_clinical_subtype {source="Orphanet:391389"}
synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040]
synonym: "episodic pain syndrome, familial, 1; FEPS1" RELATED [OMIM:615040]
synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040]
synonym: "FEPS1" RELATED [MONDO:Lexical, OMIM:615040]
xref: ICD10:M79.6 {source="ORDO:391389/attributed", source="ORDO:391389/ntbt", source="Orphanet:391389"}
xref: OMIM:615040 {source="MONDO:equivalentTo", source="Orphanet:391389", source="ORDO:391389/e"}
xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"}
xref: UMLS:C3808667 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615040"}
xref: UMLS:CN204968 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018319 {source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome
property_value: exactMatch http://identifiers.org/omim/615040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204968
property_value: exactMatch Orphanet:391389

[Term]
id: MONDO:0014022
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA10" RELATED [MONDO:Lexical, OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; MDDGA10" RELATED [OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1" EXACT [MONDO:design_pattern]
synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [OMIM:615041]
xref: OMIM:615041 {source="MONDO:equivalentTo"}
xref: UMLS:C3554381 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615041"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/615041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554381

[Term]
id: MONDO:0014023
name: congenital muscular dystrophy with intellectual disability and severe epilepsy
subset: ordo_disease {source="Orphanet:329178"}
synonym: "carbohydrate deficient glycoprotein syndrome type Iu" EXACT [Orphanet:329178]
synonym: "CDG Iu" RELATED [OMIM:615042]
synonym: "CDG syndrome type Iu" EXACT [Orphanet:329178]
synonym: "CDG-Iu" EXACT [Orphanet:329178]
synonym: "CDG1U" EXACT [MONDO:Lexical, OMIM:615042, Orphanet:329178]
synonym: "CMD with intellectual disability and severe epilepsy" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation type 1u" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation type Iu" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, OMIM:615042]
synonym: "congenital disorder of glycosylation, type Iu; CDG1U" RELATED [OMIM:615042]
synonym: "DPM2-CDG" EXACT [Orphanet:329178]
xref: GARD:0012416 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:329178/attributed", source="ORDO:329178/ntbt", source="Orphanet:329178"}
xref: OMIM:615042 {source="MONDO:equivalentTo", source="ORDO:329178/e", source="Orphanet:329178"}
xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"}
xref: UMLS:C3554385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615042"}
is_a: MONDO:0005500 {source="DC-OMIM:615042", source="MONDOLEX:0014023"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017749 {source="Orphanet:329178"} ! disorder of multiple glycosylation
is_a: MONDO:0018276 {source="Orphanet:329178"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018286 {source="Orphanet:329178"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:329178"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018288 {source="Orphanet:329178"} ! congenital disorder of glycosylation with hepatic involvement
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/615042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554385
property_value: exactMatch Orphanet:329178

[Term]
id: MONDO:0014024
name: hereditary spastic paraplegia 43
def: "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." [Orphanet:320370]
subset: ordo_disease {source="Orphanet:320370"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795]
synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795]
synonym: "C19orf12 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE:2]
synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043]
synonym: "spastic paraplegia 43, autosomal recessive; SPG43" RELATED [OMIM:615043]
synonym: "SPG43" EXACT [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370]
xref: DOID:0110795 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320370", source="ORDO:320370/attributed", source="ORDO:320370/ntbt", source="DOID:0110795"}
xref: OMIM:615043 {source="MONDO:equivalentTo", source="Orphanet:320370", source="ORDO:320370/e", source="DOID:0110795"}
xref: Orphanet:320370 {source="MONDO:equivalentTo", source="OMIM:615043", source="DOID:0110795"}
xref: SCTID:764736001 {source="MONDO:equivalentTo"}
xref: UMLS:C2680446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615043"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320370"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110795
property_value: exactMatch http://identifiers.org/omim/615043
property_value: exactMatch http://identifiers.org/snomedct/764736001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2680446
property_value: exactMatch Orphanet:320370

[Term]
id: MONDO:0014025
name: lower motor neuron syndrome with late-adult onset
subset: ordo_disease {source="Orphanet:276435"}
synonym: "SMAJ" RELATED [MONDO:Lexical, OMIM:615048]
synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048]
synonym: "spinal muscular atrophy, Jokela type; SMAJ" RELATED [OMIM:615048]
xref: ICD10:G12.1 {source="ORDO:276435/attributed", source="ORDO:276435/ntbt", source="Orphanet:276435"}
xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="ORDO:276435/e"}
xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"}
xref: UMLS:C3554398 {source="OMIM:615048", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016224 {source="Orphanet:276435"} ! autosomal dominant proximal spinal muscular atrophy
property_value: exactMatch http://identifiers.org/omim/615048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554398
property_value: exactMatch Orphanet:276435

[Term]
id: MONDO:0014026
name: congenital stationary night blindness 1F
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [DOID:0110864]
synonym: "congenital stationary night blindness caused by mutation in LRIT3" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1F" EXACT [DOID:0110864, MONDORULE:4]
synonym: "CSNB1F" EXACT [DOID:0110864, MONDO:Lexical, OMIM:615058]
synonym: "LRIT3 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical, OMIM:615058]
synonym: "night blindness, congenital stationary, type 1F; CSNB1F" RELATED [OMIM:615058]
xref: DOID:0110864 {source="MONDO:equivalentTo"}
xref: OMIM:615058 {source="DOID:0110864", source="MONDO:equivalentTo"}
xref: UMLS:C3554399 {source="OMIM:615058", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016293 {source="DC-OMIM:615058", source="DOID:0110864", source="MONDO:Redundant", source="MONDOLEX:0014026", source="OMIM:615058"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110864
property_value: exactMatch http://identifiers.org/omim/615058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554399

[Term]
id: MONDO:0014027
name: hypotrichosis 11
def: "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis 11" EXACT [MONDO:Lexical, OMIM:615059]
synonym: "hypotrichosis 11; HYPT11" RELATED [OMIM:615059]
synonym: "hypotrichosis caused by mutation in SNRPE" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 11" EXACT [DOID:0110708, MONDORULE:2, OMIM:615059]
synonym: "HYPT11" RELATED [MONDO:Lexical, OMIM:615059]
synonym: "hypt11" EXACT [DOID:0110708]
synonym: "SNRPE hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110708 {source="MONDO:equivalentTo"}
xref: OMIM:615059 {source="MONDO:equivalentTo", source="DOID:0110708"}
xref: UMLS:C3554409 {source="OMIM:615059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
property_value: exactMatch DOID:0110708
property_value: exactMatch http://identifiers.org/omim/615059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554409

[Term]
id: MONDO:0014028
name: distal arthrogryposis type 5D
def: "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." [Orphanet:329457]
subset: gard_rare {source="GARD:0013059"}
subset: ordo_disease {source="Orphanet:329457"}
synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065]
synonym: "arthrogryposis, distal, type 5D; DA5D" RELATED [OMIM:615065]
synonym: "DA5D" EXACT [MONDO:Lexical, OMIM:615065, Orphanet:329457]
synonym: "distal arthrogryposis caused by mutation in ECEL1" EXACT [MONDO:design_pattern]
synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet:329457]
synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457]
synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0013059 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="ORDO:329457/attributed", source="ORDO:329457/ntbt", source="Orphanet:329457"}
xref: OMIM:615065 {source="MONDO:equivalentTo", source="ORDO:329457/e", source="Orphanet:329457"}
xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"}
xref: UMLS:C3554415 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615065"}
is_a: MONDO:0019942 {source="DC-OMIM:615065", source="MONDO:Redundant", source="Orphanet:329457"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/omim/615065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554415
property_value: exactMatch Orphanet:329457
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d xsd:anyURI {source="GARD:0013059"}

[Term]
id: MONDO:0014029
name: osteogenesis imperfecta type 14
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI, type 14" RELATED [OMIM:615066]
synonym: "OI14" EXACT [DOID:0110343, MONDO:Lexical, OMIM:615066]
synonym: "osteogenesis imperfecta caused by mutation in TMEM38B" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XIV" EXACT [DOID:0110343]
synonym: "osteogenesis imperfecta, type 14" RELATED [OMIM:615066]
synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical, OMIM:615066]
synonym: "osteogenesis imperfecta, type XIV; OI14" RELATED [OMIM:615066]
synonym: "TMEM38B osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110343 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110343"}
xref: OMIM:615066 {source="MONDO:equivalentTo", source="DOID:0110343"}
xref: UMLS:C3554428 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615066"}
is_a: MONDO:0019019 {source="DC-OMIM:615066", source="DOID:0110343", source="MONDO:Redundant", source="OMIM:615066"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110343
property_value: exactMatch http://identifiers.org/omim/615066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554428

[Term]
id: MONDO:0014030
name: primary ciliary dyskinesia 20
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC114 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD20" EXACT [DOID:0110625, MONDO:Lexical, OMIM:615067]
synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical, OMIM:615067]
synonym: "ciliary dyskinesia, primary, 20, with or without situs inversus" RELATED [OMIM:615067]
synonym: "ciliary dyskinesia, primary, 20; CILD20" RELATED [OMIM:615067]
synonym: "ciliary dyskinesia, primary, type 20" EXACT [MONDORULE:2, OMIM:615067]
synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [DOID:0110625]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC114" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 20" EXACT [DOID:0110625, MONDORULE:2]
xref: DOID:0110625 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110625"}
xref: OMIM:615067 {source="DOID:0110625", source="MONDO:equivalentTo"}
xref: UMLS:C3540844 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615067"}
is_a: MONDO:0016575 {source="DC-OMIM:615067", source="DOID:0110625", source="MONDO:Redundant", source="MONDOLEX:0014030", source="OMIM:615067"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110625
property_value: exactMatch http://identifiers.org/omim/615067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3540844

[Term]
id: MONDO:0014031
name: microcephalic primordial dwarfism, Alazami type
def: "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." [Orphanet:319671]
subset: ordo_malformation_syndrome {source="Orphanet:319671"}
synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671]
synonym: "Alazami syndrome; ALAZS" RELATED [OMIM:615071]
synonym: "ALAZS" RELATED [MONDO:Lexical, OMIM:615071]
synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071]
xref: ICD10:Q87.1 {source="ORDO:319671/attributed", source="ORDO:319671/ntbt", source="Orphanet:319671"}
xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="ORDO:319671/e"}
xref: Orphanet:319671 {source="MONDO:equivalentTo", source="OMIM:615071"}
xref: UMLS:C3554439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615071"}
is_a: MONDO:0017950 {source="Orphanet:319671"} ! microcephalic primordial dwarfism
property_value: exactMatch http://identifiers.org/omim/615071
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554439
property_value: exactMatch Orphanet:319671

[Term]
id: MONDO:0014032
name: brachydactyly type A1C
def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDA1C" EXACT [DOID:0110977, MONDO:Lexical, OMIM:615072]
synonym: "brachydactyly type A1 caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical, OMIM:615072]
synonym: "brachydactyly, type A1, C; BDA1C" RELATED [OMIM:615072]
synonym: "GDF5 brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110977 {source="MONDO:equivalentTo"}
xref: OMIM:615072 {source="DOID:0110977", source="MONDO:equivalentTo"}
xref: UMLS:C3554446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615072"}
is_a: MONDO:0007215 {source="DOID:0110977", source="MONDO:Entailed", source="MONDO:Redundant"} ! brachydactyly type A1
property_value: exactMatch DOID:0110977
property_value: exactMatch http://identifiers.org/omim/615072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554446

[Term]
id: MONDO:0014033
name: dystonia 25
def: "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." [Orphanet:329466]
subset: ordo_disease {source="Orphanet:329466"}
synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [Orphanet:329466]
synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073]
synonym: "dystonia 25; DYT25" RELATED [OMIM:615073]
synonym: "dystonia type 25" EXACT [DOID:0090055, MONDORULE:2, OMIM:615073]
synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_pattern]
synonym: "DYT25" RELATED [MONDO:Lexical, OMIM:615073]
synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090055 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="ORDO:329466/attributed", source="ORDO:329466/ntbt", source="DOID:0090055", source="Orphanet:329466"}
xref: OMIM:615073 {source="DOID:0090055", source="MONDO:equivalentTo", source="ORDO:329466/e", source="Orphanet:329466"}
xref: Orphanet:329466 {source="DOID:0090055", source="MONDO:equivalentTo", source="OMIM:615073"}
xref: UMLS:C3554447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615073"}
is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia
is_a: MONDO:0015990 {source="Orphanet:329466"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090055
property_value: exactMatch http://identifiers.org/omim/615073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554447
property_value: exactMatch Orphanet:329466

[Term]
id: MONDO:0014034
name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." [DOID:0070048]
subset: ordo_disease {source="Orphanet:363686"}
synonym: "autosomal dominant mental retardation 18" EXACT [DOID:0070048]
synonym: "autosomal dominant non-syndromic intellectual disability 18" RELATED [DOID:0070048]
synonym: "GATAD2B-associated neurodevelopmental disorder" RELATED [GARD:0012815]
synonym: "mental retardation, autosomal dominant 18" RELATED [MONDO:Lexical, OMIM:615074]
synonym: "mental retardation, autosomal dominant 18; MRD18" RELATED [OMIM:615074]
synonym: "mental retardation, autosomal dominant type 18" EXACT [MONDORULE:2, OMIM:615074]
synonym: "MRD18" EXACT [DOID:0070048, MONDO:Lexical, OMIM:615074]
xref: DOID:0070048 {source="MONDO:equivalentTo"}
xref: GARD:0012815 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:363686/attributed", source="ORDO:363686/ntbt", source="Orphanet:363686"}
xref: OMIM:615074 {source="ORDO:363686/e", source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686"}
xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"}
xref: UMLS:C3554448 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615074"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="Orphanet:363686"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:363686"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070048"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070048
property_value: exactMatch http://identifiers.org/omim/615074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554448
property_value: exactMatch Orphanet:363686

[Term]
id: MONDO:0014035
name: severe intellectual disability-progressive spastic diplegia syndrome
def: "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes ( mutations ) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome]
subset: gard_rare {source="GARD:0003505"}
subset: ordo_malformation_syndrome {source="Orphanet:404473"}
synonym: "autosomal dominant mental retardation 19" EXACT [DOID:0070049]
synonym: "autosomal dominant non-syndromic intellectual disability 19" RELATED [DOID:0070049]
synonym: "CTNNB1-related intellectual disability" RELATED [GARD:0003505]
synonym: "intellectual disability, autosomal dominant 19" RELATED [GARD:0003505]
synonym: "mental retardation, autosomal dominant 19" RELATED [MONDO:Lexical, OMIM:615075]
synonym: "mental retardation, autosomal dominant 19; MRD19" RELATED [OMIM:615075]
synonym: "mental retardation, autosomal dominant type 19" EXACT [MONDORULE:2, OMIM:615075]
synonym: "MRD19" EXACT [DOID:0070049, MONDO:Lexical, OMIM:615075]
xref: DOID:0070049 {source="MONDO:equivalentTo"}
xref: GARD:0003505 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:relatedTo", source="ORDO:404473/attributed", source="ORDO:404473/ntbt", source="Orphanet:404473"}
xref: OMIM:615075 {source="DOID:0070049", source="MONDO:equivalentTo", source="ORDO:404473/e", source="Orphanet:404473"}
xref: Orphanet:404473 {source="MONDO:equivalentTo", source="OMIM:615075"}
xref: UMLS:C3554449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615075"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404473", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:404473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070049"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070049
property_value: exactMatch http://identifiers.org/omim/615075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554449
property_value: exactMatch Orphanet:404473
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome xsd:anyURI {source="GARD:0003505"}

[Term]
id: MONDO:0014036
name: Alzheimer disease 17
def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." [DOID:0110049, PMID:23150934]
synonym: "AD17" EXACT [DOID:0110049, MONDO:Lexical, OMIM:615080]
synonym: "Alzheimer disease 17" EXACT [DOID:0110049, MONDO:Lexical, OMIM:615080]
synonym: "Alzheimer disease 17, late onset" EXACT [DOID:0110049]
synonym: "Alzheimer disease 17, late-onset" RELATED [OMIM:615080]
synonym: "Alzheimer disease 17; AD17" RELATED [OMIM:615080]
synonym: "Alzheimer's disease 17" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 17" EXACT [DOID:0110049, MONDORULE:2]
xref: DOID:0110049 {source="MONDO:equivalentTo"}
xref: OMIM:615080 {source="DOID:0110049", source="MONDO:equivalentTo"}
xref: UMLS:C3554452 {source="OMIM:615080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004975 {source="DC-OMIM:615080", source="DOID:0110049", source="MONDOLEX:0014036"} ! Alzheimer disease
property_value: exactMatch DOID:0110049
property_value: exactMatch http://identifiers.org/omim/615080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554452

[Term]
id: MONDO:0014037
name: spermatogenic failure 11
def: "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern]
synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081]
synonym: "spermatogenic failure 11; SPGF11" RELATED [OMIM:615081]
synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081]
synonym: "SPGF11" RELATED [MONDO:Lexical, OMIM:615081]
xref: DOID:0070180 {source="MONDO:equivalentTo"}
xref: OMIM:615081 {source="MONDO:equivalentTo"}
xref: UMLS:C3554453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615081"}
is_a: MONDO:0004983 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070180
property_value: exactMatch http://identifiers.org/omim/615081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554453

[Term]
id: MONDO:0014038
name: colorectal cancer, susceptibility to, 12
def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "colorectal cancer caused by mutation in POLE" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:615083]
synonym: "colorectal cancer, susceptibility to, 12; CRCS12" RELATED [OMIM:615083]
synonym: "colorectal cancer, susceptibility to, on chromosome 12Q24" RELATED [OMIM:615083]
synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:615083]
synonym: "CRCS12" RELATED [MONDO:Lexical, OMIM:615083]
synonym: "POLE colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 12" RELATED [OMIM:615083]
xref: OMIM:615083 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 ! colorectal cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554460
property_value: exactMatch http://identifiers.org/omim/615083

[Term]
id: MONDO:0014039
name: mitochondrial DNA depletion syndrome 11
def: "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." [Orphanet:352447]
subset: ordo_disease {source="Orphanet:352447"}
synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084]
synonym: "mitochondrial DNA depletion syndrome 11; MTDPS11" RELATED [OMIM:615084]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in MGME1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [DOID:0080129, MONDORULE:2, OMIM:615084]
synonym: "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447]
synonym: "mtDNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447]
synonym: "MTDPS11" RELATED [MONDO:Lexical, OMIM:615084]
synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447]
synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447]
xref: DOID:0080129 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:352447/attributed", source="ORDO:352447/ntbt", source="Orphanet:352447"}
xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="ORDO:352447/e", source="DOID:0080129"}
xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"}
xref: UMLS:C3554462 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615084"}
is_a: MONDO:0018158 {source="DC-OMIM:615084", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch DOID:0080129
property_value: exactMatch http://identifiers.org/omim/615084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554462
property_value: exactMatch Orphanet:352447

[Term]
id: MONDO:0014040
name: autosomal recessive osteopetrosis 8
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in SNX10" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in SNX10" EXACT []
synonym: "autosomal recessive osteopetrosis type 8" EXACT [DOID:0110940, MONDORULE:1]
synonym: "OPTB8" EXACT [DOID:0110940, MONDO:Lexical, OMIM:615085]
synonym: "osteopetrosis, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:615085]
synonym: "osteopetrosis, autosomal recessive 8; OPTB8" RELATED [OMIM:615085]
synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:615085]
synonym: "SNX10 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "SNX10 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110940 {source="MONDO:equivalentTo"}
xref: NCIT:C150556 {source="MONDO:equivalentTo"}
xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"}
xref: UMLS:C3554478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615085"}
is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis
property_value: exactMatch DOID:0110940
property_value: exactMatch http://identifiers.org/omim/615085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554478
property_value: exactMatch NCIT:C150556

[Term]
id: MONDO:0014041
name: autism, susceptibility to, 19
comment: Not listed in the OMIM series but the page directs you to 209850 for the full details. {source="OMIM:615091"}
subset: predisposition
synonym: "autism, susceptibility to, 19" EXACT [MONDO:Lexical, OMIM:615091]
synonym: "autism, susceptibility to, 19; AUTS19" RELATED [OMIM:615091]
synonym: "autism, susceptibility to, type 19" EXACT [MONDORULE:2, OMIM:615091]
synonym: "AUTS19" RELATED [MONDO:Lexical, OMIM:615091]
synonym: "susceptibility to autism 19" RELATED [OMIM:615091]
xref: OMIM:615091 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554495
property_value: closeMatch Orphanet:106
property_value: exactMatch http://identifiers.org/omim/615091

[Term]
id: MONDO:0014042
name: left ventricular noncompaction 7
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, OMIM:615092]
synonym: "left ventricular noncompaction 7; LVNC7" RELATED [OMIM:615092]
synonym: "left ventricular noncompaction caused by mutation in MIB1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1, OMIM:615092]
synonym: "LVNC7" RELATED [MONDO:Lexical, OMIM:615092]
synonym: "MIB1 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615092 {source="MONDO:equivalentTo"}
xref: UMLS:C3554496 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615092"}
is_a: MONDO:0018901 {source="DC-OMIM:615092", source="MONDO:Redundant", source="MONDOLEX:0014042", source="OMIM:615092"} ! left ventricular noncompaction (disease)
property_value: exactMatch http://identifiers.org/omim/615092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554496

[Term]
id: MONDO:0014043
name: microcephalic primordial dwarfism due to ZNF335 deficiency
def: "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." [Orphanet:329228]
subset: ordo_malformation_syndrome {source="Orphanet:329228"}
synonym: "MCPH10" RELATED [MONDO:Lexical, OMIM:615095]
synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228]
synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095]
synonym: "microcephaly 10, primary, autosomal recessive; MCPH10" RELATED [OMIM:615095]
synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294]
xref: DOID:0070294 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:329228", source="ORDO:329228/attributed", source="ORDO:329228/ntbt"}
xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="ORDO:329228/e"}
xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"}
xref: SCTID:724141003 {source="MONDO:equivalentTo"}
xref: UMLS:C3554499 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615095"}
xref: UMLS:C4510378 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:615095", source="OMIM:615095"} ! autosomal recessive primary microcephaly
is_a: MONDO:0017950 {source="Orphanet:329228"} ! microcephalic primordial dwarfism
property_value: exactMatch DOID:0070294
property_value: exactMatch http://identifiers.org/omim/615095
property_value: exactMatch http://identifiers.org/snomedct/724141003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554499
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510378
property_value: exactMatch Orphanet:329228

[Term]
id: MONDO:0014044
name: dysmorphism-conductive hearing loss-heart defect syndrome
def: "#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability." [Orphanet:289553]
subset: ordo_malformation_syndrome {source="Orphanet:289553"}
synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102]
xref: ICD10:Q87.8 {source="Orphanet:289553", source="ORDO:289553/attributed", source="ORDO:289553/ntbt"}
xref: OMIM:615102 {source="ORDO:289553/e", source="Orphanet:289553", source="MONDO:equivalentTo"}
xref: Orphanet:289553 {source="OMIM:615102", source="MONDO:equivalentTo"}
xref: SCTID:763279007 {source="MONDO:equivalentTo"}
xref: UMLS:C3554774 {source="OMIM:615102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:289553"} ! syndromic genetic deafness
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:289553"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/615102
property_value: exactMatch http://identifiers.org/snomedct/763279007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554774
property_value: exactMatch Orphanet:289553

[Term]
id: MONDO:0014045
name: Cowden syndrome 3
def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in SDHD" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 3" EXACT [MONDO:Lexical, OMIM:615106]
synonym: "Cowden syndrome 3; CWS3" RELATED [OMIM:615106]
synonym: "Cowden syndrome type 3" EXACT [MONDORULE:1, OMIM:615106]
synonym: "CWS3" RELATED [MONDO:Lexical, OMIM:615106]
synonym: "SDHD Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615106 {source="MONDO:equivalentTo"}
xref: UMLS:C3554516 {source="NCBI:mim2gene_medline", source="OMIM:615106", source="MONDO:equivalentTo"}
is_a: MONDO:0016063 {source="DC-OMIM:615106", source="MONDO:Redundant", source="MONDOLEX:0014045", source="OMIM:615106"} ! Cowden disease
property_value: exactMatch http://identifiers.org/omim/615106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554516

[Term]
id: MONDO:0014046
name: Cowden syndrome 4
def: "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in KLLN" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 4" EXACT [MONDO:Lexical, OMIM:615107]
synonym: "Cowden syndrome 4; CWS4" RELATED [OMIM:615107]
synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1, OMIM:615107]
synonym: "CWS4" RELATED [MONDO:Lexical, OMIM:615107]
synonym: "KLLN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615107 {source="MONDO:equivalentTo"}
xref: UMLS:C3554517 {source="OMIM:615107", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016063 {source="DC-OMIM:615107", source="MONDO:Redundant", source="MONDOLEX:0014046", source="OMIM:615107"} ! Cowden disease
property_value: exactMatch http://identifiers.org/omim/615107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554517

[Term]
id: MONDO:0014047
name: Cowden syndrome 5
def: "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in PIK3CA" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 5" EXACT [MONDO:Lexical, OMIM:615108]
synonym: "Cowden syndrome 5; CWS5" RELATED [OMIM:615108]
synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1, OMIM:615108]
synonym: "CWS5" RELATED [MONDO:Lexical, OMIM:615108]
synonym: "PIK3CA Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615108 {source="MONDO:equivalentTo"}
xref: UMLS:C3554518 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615108"}
is_a: MONDO:0016063 {source="DC-OMIM:615108", source="MONDO:Redundant", source="MONDOLEX:0014047", source="OMIM:615108"} ! Cowden disease
property_value: exactMatch http://identifiers.org/omim/615108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554518

[Term]
id: MONDO:0014048
name: Cowden syndrome 6
def: "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AKT1 Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in AKT1" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 6" EXACT [MONDO:Lexical, OMIM:615109]
synonym: "Cowden syndrome 6; CWS6" RELATED [OMIM:615109]
synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1, OMIM:615109]
synonym: "CWS6" RELATED [MONDO:Lexical, OMIM:615109]
xref: OMIM:615109 {source="MONDO:equivalentTo"}
xref: UMLS:C3554519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615109"}
is_a: MONDO:0016063 {source="DC-OMIM:615109", source="MONDO:Redundant", source="MONDOLEX:0014048", source="OMIM:615109"} ! Cowden disease
property_value: exactMatch http://identifiers.org/omim/615109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554519

[Term]
id: MONDO:0014049
name: urofacial syndrome 2
def: "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LRIG2 Ochoa syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ochoa syndrome caused by mutation in LRIG2" EXACT [MONDO:design_pattern]
synonym: "UFS2" RELATED [MONDO:Lexical, OMIM:615112]
synonym: "urofacial syndrome 2" EXACT [MONDO:Lexical, OMIM:615112]
synonym: "urofacial syndrome 2; UFS2" RELATED [OMIM:615112]
synonym: "urofacial syndrome type 2" EXACT [MONDORULE:1, OMIM:615112]
xref: OMIM:615112 {source="MONDO:equivalentTo"}
xref: UMLS:C3554520 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615112"}
is_a: MONDO:0000463 {source="DC-OMIM:615112", source="MONDO:Redundant", source="OMIM:615112"} ! Ochoa syndrome
property_value: exactMatch http://identifiers.org/omim/615112
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554520

[Term]
id: MONDO:0014050
name: isolated microphthalmia 8
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALDH1A3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in ALDH1A3" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 8" EXACT [DOID:0060841, MONDORULE:1]
synonym: "MCOP8" EXACT [DOID:0060841, MONDO:Lexical, OMIM:615113]
synonym: "microphthalmia, isolated 8" RELATED [MONDO:Lexical, OMIM:615113]
synonym: "microphthalmia, isolated 8; MCOP8" RELATED [OMIM:615113]
synonym: "microphthalmia, isolated type 8" EXACT [MONDORULE:1, OMIM:615113]
xref: DOID:0060841 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.0 {source="DOID:0060841"}
xref: OMIM:615113 {source="MONDO:equivalentTo", source="DOID:0060841"}
xref: UMLS:C3554524 {source="OMIM:615113", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000062 {source="DC-OMIM:615113", source="MONDO:Redundant", source="MONDOLEX:0014050", source="OMIM:615113"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
property_value: exactMatch DOID:0060841
property_value: exactMatch http://identifiers.org/omim/615113
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554524

[Term]
id: MONDO:0014051
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" EXACT [MONDO:Lexical, OMIM:615119]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; CEMCOX2" RELATED [OMIM:615119]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1, OMIM:615119]
synonym: "CEMCOX2" RELATED [MONDO:Lexical, OMIM:615119]
synonym: "COX15 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COX15" EXACT [MONDO:design_pattern]
xref: OMIM:615119 {source="MONDO:equivalentTo"}
xref: UMLS:C3554534 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615119"}
is_a: MONDO:0015487 {source="DC-OMIM:615119", source="MONDO:Redundant", source="MONDOLEX:0014051"} ! fatal infantile encephalocardiomyopathy
property_value: exactMatch http://identifiers.org/omim/615119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554534

[Term]
id: MONDO:0014052
name: congenital myasthenic syndrome 8
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS8" EXACT [DOID:0110657, MONDO:Lexical, OMIM:615120]
synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [DOID:0110657]
synonym: "congenital myasthenic syndrome caused by mutation in AGRN" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [DOID:0110657]
synonym: "congenital myasthenic syndrome type 8" EXACT [DOID:0110657, MONDORULE:1]
synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical, OMIM:615120]
synonym: "myasthenic syndrome, congenital, 8; CMS8" RELATED [OMIM:615120]
synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [OMIM:615120]
synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1, OMIM:615120]
synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [OMIM:615120]
xref: DOID:0110657 {source="MONDO:equivalentTo"}
xref: OMIM:615120 {source="DOID:0110657", source="MONDO:equivalentTo"}
xref: UMLS:C3808739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615120"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110657
property_value: exactMatch http://identifiers.org/omim/615120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808739

[Term]
id: MONDO:0014053
name: stomatin-like protein-2, hyperphosphorylation of
synonym: "hyperphosphorylated Paratarg-7" RELATED [OMIM:615121]
synonym: "stomatin-like protein-2, hyperphosphorylation of" EXACT [OMIM:615121]
xref: OMIM:615121 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554539
property_value: exactMatch http://identifiers.org/omim/615121

[Term]
id: MONDO:0014054
name: lymphoproliferative syndrome 2
def: "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CD27 deficiency" EXACT EXCLUDE [DOID:0060708]
synonym: "CD27 lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LPFS2" EXACT [DOID:0060708, MONDO:Lexical, OMIM:615122]
synonym: "lymphoproliferative syndrome 2" EXACT [MONDO:Lexical, OMIM:615122]
synonym: "lymphoproliferative syndrome 2; LPFS2" RELATED [OMIM:615122]
synonym: "lymphoproliferative syndrome caused by mutation in CD27" EXACT [MONDO:design_pattern]
synonym: "lymphoproliferative syndrome type 2" EXACT [DOID:0060708, MONDORULE:1, OMIM:615122]
xref: DOID:0060708 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="DOID:0060708"}
xref: OMIM:615122 {source="DOID:0060708", source="MONDO:equivalentTo"}
xref: UMLS:C3554540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615122"}
is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease
property_value: exactMatch DOID:0060708
property_value: exactMatch http://identifiers.org/omim/615122
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554540

[Term]
id: MONDO:0014055
name: FAME4
synonym: "cortical myoclonic tremor with epilepsy, familial, 4" RELATED [OMIM:615127]
synonym: "epilepsy, familial ADULT myoclonic, 4" RELATED [MONDO:Lexical, OMIM:615127]
synonym: "epilepsy, familial ADULT myoclonic, 4; FAME4" RELATED [OMIM:615127]
synonym: "FAME4" EXACT [MONDO:Lexical, OMIM:615127]
xref: OMIM:615127 {source="MONDO:equivalentTo"}
xref: UMLS:C3554560 {source="OMIM:615127", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="DC-OMIM:615127", source="OMIM:615127"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/615127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554560

[Term]
id: MONDO:0014056
name: melanoma, cutaneous malignant, susceptibility to, 9
subset: predisposition
synonym: "CMM9" RELATED [MONDO:Lexical, OMIM:615134]
synonym: "melanoma, cutaneous malignant, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:615134]
synonym: "melanoma, cutaneous malignant, susceptibility to, 9; CMM9" RELATED [OMIM:615134]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:615134]
synonym: "susceptibility to cutaneous malignant melanoma 9" RELATED [OMIM:615134]
xref: OMIM:615134 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:615134"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554574
property_value: exactMatch http://identifiers.org/omim/615134

[Term]
id: MONDO:0014057
name: maple syrup urine disease, mild variant
synonym: "maple syrup urine disease, mild variant" EXACT [MONDO:Lexical, OMIM:615135]
synonym: "maple syrup urine disease, mild variant; MSUDMV" RELATED [OMIM:615135]
synonym: "MSUDMV" RELATED [MONDO:Lexical, OMIM:615135]
xref: OMIM:615135 {source="MONDO:equivalentTo"}
xref: UMLS:C3554575 {source="OMIM:615135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017052 {source="ORDO:268162/btnt"} ! intermediate maple syrup urine disease
property_value: exactMatch http://identifiers.org/omim/615135
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554575

[Term]
id: MONDO:0014058
name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome
def: "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." [Orphanet:352712]
subset: ordo_disease {source="Orphanet:352712"}
synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139]
synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature; fils" RELATED [OMIM:615139]
synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139]
synonym: "fils syndrome" EXACT [Orphanet:352712]
xref: ICD10:Q87.1 {source="ORDO:352712/attributed", source="ORDO:352712/ntbt", source="Orphanet:352712"}
xref: OMIM:615139 {source="MONDO:equivalentTo", source="ORDO:352712/e", source="Orphanet:352712"}
xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"}
xref: UMLS:C3554576 {source="NCBI:mim2gene_medline", source="OMIM:615139", source="MONDO:equivalentTo"}
is_a: MONDO:0015329 {source="Orphanet:352712"} ! malformation syndrome with short stature
is_a: MONDO:0015331 {source="Orphanet:352712"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0018035 {source="Orphanet:352712"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554576
property_value: exactMatch Orphanet:352712

[Term]
id: MONDO:0014059
name: microphthalmia, isolated, with coloboma 9
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB9" RELATED [MONDO:Lexical, OMIM:615145]
synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical, OMIM:615145]
synonym: "microphthalmia, isolated, with coloboma 9; MCOPCB9" RELATED [OMIM:615145]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in TENM3" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1, OMIM:615145]
synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615145 {source="MONDO:equivalentTo"}
xref: UMLS:C3554592 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615145"}
is_a: MONDO:0010303 {source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/omim/615145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554592

[Term]
id: MONDO:0014060
name: progressive retinal dystrophy due to retinol transport defect
subset: ordo_disease {source="Orphanet:352718"}
synonym: "RDCCAS" RELATED [MONDO:Lexical, OMIM:615147]
synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147]
synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome; RDCCAS" RELATED [OMIM:615147]
synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718]
xref: ICD10:H35.5 {source="Orphanet:352718", source="MONDO:directSiblingOf", source="ORDO:352718/attributed", source="ORDO:352718/ntbt"}
xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="ORDO:352718/e"}
xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"}
xref: UMLS:C3554593 {source="OMIM:615147", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017760 {source="Orphanet:352718"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/omim/615147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554593
property_value: exactMatch Orphanet:352718

[Term]
id: MONDO:0014061
name: Steel syndrome
subset: ordo_disease {source="Orphanet:438117"}
synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" EXACT [Orphanet:438117]
synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155]
synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155]
synonym: "steel syndrome; STLS" RELATED [OMIM:615155]
synonym: "STLS" RELATED [MONDO:Lexical, OMIM:615155]
xref: ICD10:Q87.5 {source="Orphanet:438117", source="ORDO:438117/attributed", source="ORDO:438117/ntbt"}
xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="ORDO:438117/e"}
xref: Orphanet:438117 {source="MONDO:equivalentTo"}
xref: UMLS:C3554594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615155"}
is_a: MONDO:0019705 {source="Orphanet:438117"} ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch http://identifiers.org/omim/615155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554594
property_value: exactMatch Orphanet:438117

[Term]
id: MONDO:0014062
name: mitochondrial DNA deletion syndrome with progressive myopathy
subset: ordo_disease {source="Orphanet:352470"}
synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470]
synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470]
synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [Orphanet:352470]
synonym: "PEOA6" RELATED [MONDO:Lexical, OMIM:615156]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:615156]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; PEOA6" RELATED [OMIM:615156]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156]
synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156]
xref: ICD10:G71.3 {source="ORDO:352470/attributed", source="ORDO:352470/ntbt", source="Orphanet:352470"}
xref: OMIM:615156 {source="MONDO:equivalentTo", source="Orphanet:352470", source="ORDO:352470/e"}
xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"}
xref: UMLS:C3554599 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615156"}
is_a: MONDO:0000090 {source="DC-OMIM:615156", source="MONDOLEX:0014062", source="OMIM:615156"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016797 {source="Orphanet:352470"} ! multiple mitochondrial DNA deletion syndrome
property_value: exactMatch http://identifiers.org/omim/615156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554599
property_value: exactMatch Orphanet:352470

[Term]
id: MONDO:0014063
name: mitochondrial complex III deficiency nuclear type 2
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN2" EXACT [DOID:0060351, MONDO:Lexical, OMIM:615157]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [OMIM:615157]
synonym: "mitochondrial complex III deficiency caused by mutation in TTC19" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:615157]
synonym: "mitochondrial complex III deficiency, nuclear type 2; MC3DN2" RELATED [OMIM:615157]
synonym: "TTC19 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060351 {source="MONDO:equivalentTo"}
xref: OMIM:615157 {source="DOID:0060351", source="MONDO:equivalentTo"}
xref: UMLS:C3554605 {source="OMIM:615157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0060351
property_value: exactMatch http://identifiers.org/omim/615157
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554605

[Term]
id: MONDO:0014064
name: mitochondrial complex III deficiency nuclear type 3
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN3" RELATED [MONDO:Lexical, OMIM:615158]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [OMIM:615158]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRB" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:615158]
synonym: "mitochondrial complex III deficiency, nuclear type 3; MC3DN3" RELATED [OMIM:615158]
synonym: "UQCRB mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080112 {source="MONDO:equivalentTo"}
xref: OMIM:615158 {source="DOID:0080112", source="MONDO:equivalentTo"}
xref: UMLS:C3554606 {source="OMIM:615158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080112
property_value: exactMatch http://identifiers.org/omim/615158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554606

[Term]
id: MONDO:0014065
name: mitochondrial complex III deficiency nuclear type 4
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN4" RELATED [MONDO:Lexical, OMIM:615159]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [OMIM:615159]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRQ" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615159]
synonym: "mitochondrial complex III deficiency, nuclear type 4; MC3DN4" RELATED [OMIM:615159]
synonym: "UQCRQ mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080113 {source="MONDO:equivalentTo"}
xref: OMIM:615159 {source="MONDO:equivalentTo", source="DOID:0080113"}
xref: UMLS:C3554607 {source="OMIM:615159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080113
property_value: exactMatch http://identifiers.org/omim/615159
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554607

[Term]
id: MONDO:0014066
name: mitochondrial complex III deficiency nuclear type 5
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN5" RELATED [MONDO:Lexical, OMIM:615160]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [OMIM:615160]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRC2" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical, OMIM:615160]
synonym: "mitochondrial complex III deficiency, nuclear type 5; MC3DN5" RELATED [OMIM:615160]
synonym: "UQCRC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080114 {source="MONDO:equivalentTo"}
xref: OMIM:615160 {source="DOID:0080114", source="MONDO:equivalentTo"}
xref: UMLS:C3554608 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615160"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080114
property_value: exactMatch http://identifiers.org/omim/615160
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554608

[Term]
id: MONDO:0014067
name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:357175"}
synonym: "mental retardation, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162]
synonym: "mental retardation, autosomal recessive 35; MRT35" RELATED [OMIM:615162]
synonym: "MRT35" RELATED [MONDO:Lexical, OMIM:615162]
xref: ICD10:Q87.8 {source="ORDO:357175/attributed", source="ORDO:357175/ntbt", source="Orphanet:357175"}
xref: OMIM:615162 {source="MONDO:equivalentTo", source="ORDO:357175/e", source="Orphanet:357175"}
xref: Orphanet:357175 {source="MONDO:equivalentTo", source="OMIM:615162"}
xref: UMLS:C3554609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615162"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357175", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:357175"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554609
property_value: exactMatch Orphanet:357175

[Term]
id: MONDO:0014068
name: cone-rod dystrophy 17
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26." [DOID:0111023, PMID:22929024]
synonym: "cone-rod dystrophy 17" EXACT [MONDO:Lexical, OMIM:615163]
synonym: "cone-rod dystrophy 17; CORD17" RELATED [OMIM:615163]
synonym: "cone-rod dystrophy type 17" EXACT [DOID:0111023, MONDORULE:2]
synonym: "CORD17" EXACT [DOID:0111023, MONDO:Lexical, OMIM:615163]
xref: DOID:0111023 {source="MONDO:equivalentTo"}
xref: OMIM:615163 {source="MONDO:equivalentTo", source="DOID:0111023"}
xref: UMLS:C3554610 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615163"}
is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111023
property_value: exactMatch http://identifiers.org/omim/615163
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554610

[Term]
id: MONDO:0014069
name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
subset: ordo_malformation_syndrome {source="Orphanet:357332"}
synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [OMIM:615170]
synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332]
synonym: "WAHAB syndrome" RELATED [OMIM:615170]
synonym: "Wahab syndrome" EXACT [Orphanet:357332]
xref: ICD10:Q87.2 {source="ORDO:357332/attributed", source="ORDO:357332/ntbt", source="Orphanet:357332"}
xref: OMIM:615170 {source="MONDO:equivalentTo", source="Orphanet:357332", source="ORDO:357332/e"}
xref: Orphanet:357332 {source="MONDO:equivalentTo", source="OMIM:615170"}
xref: UMLS:C3554611 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615170"}
is_a: MONDO:0017434 {source="Orphanet:357332"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/omim/615170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554611
property_value: exactMatch Orphanet:357332

[Term]
id: MONDO:0014070
name: oculocutaneous albinism type 7
def: "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." [Orphanet:352745]
subset: ordo_disease {source="Orphanet:352745"}
synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179]
synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179]
synonym: "albinism, oculocutaneous, type VII; OCA7" RELATED [OMIM:615179]
synonym: "LRMDA oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OCA7" EXACT [DOID:0070100, MONDO:Lexical, OMIM:615179, Orphanet:352745]
synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100]
xref: DOID:0070100 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:352745/attributed", source="ORDO:352745/ntbt", source="Orphanet:352745"}
xref: OMIM:615179 {source="DOID:0070100", source="MONDO:equivalentTo", source="ORDO:352745/e", source="Orphanet:352745"}
xref: Orphanet:352745 {source="OMIM:615179", source="MONDO:equivalentTo"}
xref: SCTID:722059002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3808786 {source="OMIM:615179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN204524 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018910 {source="DC-OMIM:615179", source="DOID:0070100", source="MONDO:Redundant", source="OMIM:615179", source="Orphanet:352745", source="linkedlifedata"} ! oculocutaneous albinism
property_value: exactMatch DOID:0070100
property_value: exactMatch http://identifiers.org/omim/615179
property_value: exactMatch http://identifiers.org/snomedct/722059002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204524
property_value: exactMatch Orphanet:352745

[Term]
id: MONDO:0014071
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA11" RELATED [MONDO:Lexical, OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" EXACT [MONDO:Lexical, OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11; MDDGA11" RELATED [OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [OMIM:615181]
xref: OMIM:615181 {source="MONDO:equivalentTo"}
xref: UMLS:C3554638 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615181"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/615181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554638

[Term]
id: MONDO:0014072
name: D,L-2-hydroxyglutaric aciduria
def: "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." [Orphanet:356978]
subset: ordo_disease {source="Orphanet:356978"}
synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical, OMIM:615182]
synonym: "combined D-2- and L-2-hydroxyglutaric aciduria; D2L2AD" RELATED [OMIM:615182]
synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978]
synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [Orphanet:356978]
synonym: "D,L-2-HGA" EXACT [Orphanet:356978]
synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978]
synonym: "D2L2AD" RELATED [MONDO:Lexical, OMIM:615182]
xref: ICD10:E72.8 {source="ORDO:356978/attributed", source="ORDO:356978/ntbt", source="Orphanet:356978"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:615182 {source="MONDO:equivalentTo", source="ORDO:356978/e", source="Orphanet:356978"}
xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"}
xref: SCTID:713401006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4076194 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016001 {source="Orphanet:356978", source="linkedlifedata"} ! 2-hydroxyglutaric aciduria
property_value: exactMatch http://identifiers.org/omim/615182
property_value: exactMatch http://identifiers.org/snomedct/713401006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4076194
property_value: exactMatch Orphanet:356978

[Term]
id: MONDO:0014073
name: dilated cardiomyopathy 1II
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical, OMIM:615184]
synonym: "cardiomyopathy, dilated, 1II; CMD1II" RELATED [OMIM:615184]
synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6, OMIM:615184]
synonym: "CMD1II" EXACT [DOID:0110450, MONDO:Lexical, OMIM:615184]
synonym: "CRYAB familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1II" EXACT [DOID:0110450, MONDORULE:6]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
xref: DOID:0110450 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110450"}
xref: OMIM:615184 {source="MONDO:equivalentTo", source="DOID:0110450"}
xref: UMLS:C3554649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615184"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110450
property_value: exactMatch http://identifiers.org/omim/615184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554649

[Term]
id: MONDO:0014074
name: Charcot-Marie-Tooth disease dominant intermediate f
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." [Orphanet:352670]
comment: Not in the OMIM series. {source="OMIM:615185"}
subset: ordo_disease {source="Orphanet:352670"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [DOID:0110206, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate F" RELATED [MONDO:Lexical, OMIM:615185]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate F; CMTDIF" RELATED [OMIM:615185]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type F" EXACT [MONDORULE:1, OMIM:615185]
synonym: "CMTDIF" EXACT [DOID:0110206, MONDO:Lexical, OMIM:615185, Orphanet:352670]
synonym: "DI-CMTF" RELATED [GARD:0009206]
synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206]
xref: DOID:0110206 {source="MONDO:equivalentTo"}
xref: GARD:0009206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G60.0 {source="Orphanet:352670", source="DOID:0110206", source="ORDO:352670/attributed", source="ORDO:352670/ntbt"}
xref: OMIM:615185 {source="Orphanet:352670", source="ORDO:352670/e", source="DOID:0110206", source="MONDO:equivalentTo"}
xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"}
xref: UMLS:C3554654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615185"}
is_a: MONDO:0019548 {source="MONDOLEX:0014074", source="Orphanet:352670"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110206
property_value: exactMatch http://identifiers.org/omim/615185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554654
property_value: exactMatch Orphanet:352670

[Term]
id: MONDO:0014075
name: cataract 39 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cataract 39 multiple types" EXACT [DOID:0110236]
synonym: "cataract 39, multiple types" RELATED [MONDO:Lexical, OMIM:615188]
synonym: "cataract 39, multiple types; CTRCT39" RELATED [OMIM:615188]
synonym: "CRYGB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT39" EXACT [DOID:0110236, MONDO:Lexical, OMIM:615188]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYGB" EXACT [MONDO:design_pattern]
xref: DOID:0110236 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110236"}
xref: OMIM:615188 {source="DOID:0110236", source="MONDO:equivalentTo"}
xref: UMLS:C3808800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615188"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110236
property_value: exactMatch http://identifiers.org/omim/615188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808800

[Term]
id: MONDO:0014076
name: dyskeratosis congenita, autosomal recessive 5
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." [DOID:0070020]
synonym: "autosomal dominant dyskeratosis congenita 4" RELATED [DOID:0070020]
synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [DOID:0070022]
synonym: "DKCA4" EXACT [DOID:0070020]
synonym: "DKCB5" EXACT [DOID:0070022, MONDO:Lexical, OMIM:615190]
synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [OMIM:615190]
synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:615190]
synonym: "dyskeratosis congenita, autosomal recessive 5; DKCB5" RELATED [OMIM:615190]
synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:615190]
xref: DOID:0070020 {source="MONDO:equivalentTo"}
xref: DOID:0070022 {source="MONDO:equivalentTo"}
xref: OMIM:615190 {source="DOID:0070020", source="DOID:0070022", source="MONDO:equivalentTo"}
xref: UMLS:C3554656 {source="OMIM:615190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015780 {source="DOID:0070020", source="DOID:0070022", source="MONDO:Redundant", source="OMIM:615190"} ! dyskeratosis congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808802
property_value: exactMatch DOID:0070020
property_value: exactMatch DOID:0070022
property_value: exactMatch http://identifiers.org/omim/615190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554656

[Term]
id: MONDO:0014077
name: cobblestone lissencephaly without muscular or ocular involvement
def: "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." [Orphanet:352682]
subset: clingen
subset: ordo_disease {source="Orphanet:352682"}
synonym: "cobblestone lissencephaly without muscular or eye involvement" EXACT [Orphanet:352682]
synonym: "LIS5" RELATED [MONDO:Lexical, OMIM:615191]
synonym: "lissencephaly 5" RELATED [MONDO:Lexical, OMIM:615191]
synonym: "lissencephaly 5; LIS5" RELATED [OMIM:615191]
synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orphanet:352682]
synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682]
synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191]
xref: ICD10:Q04.3 {source="Orphanet:352682", source="ORDO:352682/attributed", source="ORDO:352682/ntbt"}
xref: OMIM:615191 {source="ORDO:352682/e", source="Orphanet:352682", source="MONDO:equivalentTo"}
xref: Orphanet:352682 {source="MONDO:equivalentTo", source="OMIM:615191"}
xref: UMLS:C3554657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615191"}
is_a: MONDO:0018869 {source="MONDOLEX:0014077", source="Orphanet:352682"} ! cobblestone lissencephaly
property_value: exactMatch http://identifiers.org/omim/615191
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554657
property_value: exactMatch Orphanet:352682

[Term]
id: MONDO:0014078
name: platelet-type bleeding disorder 15
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053]
synonym: "BDPLT15" EXACT [DOID:0111053, MONDO:Lexical, OMIM:615193]
synonym: "bleeding disorder, platelet-type, 15" RELATED [MONDO:Lexical, OMIM:615193]
synonym: "bleeding disorder, platelet-type, 15; BDPLT15" RELATED [OMIM:615193]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1" EXACT [MONDO:design_pattern]
synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [OMIM:615193]
xref: DOID:0111053 {source="MONDO:equivalentTo"}
xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"}
xref: UMLS:C3554663 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615193"}
is_a: MONDO:0015372 {source="ORDO:140957/btnt"} ! autosomal dominant macrothrombocytopenia
property_value: exactMatch DOID:0111053
property_value: exactMatch http://identifiers.org/omim/615193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554663

[Term]
id: MONDO:0014079
name: restless legs syndrome, susceptibility to, 8
subset: predisposition
synonym: "restless legs syndrome, susceptibility to, 8" RELATED [OMIM:615197]
synonym: "restless legs syndrome, susceptibility to, 8; RLS8" RELATED [OMIM:615197]
synonym: "RLS8" EXACT [MONDO:Lexical, OMIM:615197]
xref: OMIM:615197 {source="MONDO:equivalentTo"}
is_a: MONDO:0005391 {source="DC-OMIM:615197", source="MONDOLEX:0014079", source="OMIM:615197"} ! restless legs syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554664
property_value: exactMatch http://identifiers.org/omim/615197

[Term]
id: MONDO:0014080
name: osteosclerotic metaphyseal dysplasia
subset: ordo_malformation_syndrome
synonym: "OSMD" EXACT [MONDO:Lexical, OMIM:615198]
synonym: "osteosclerotic metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:615198]
synonym: "osteosclerotic metaphyseal dysplasia; OSMD" RELATED [OMIM:615198]
xref: OMIM:615198 {source="MONDO:equivalentTo", source="Orphanet:500548"}
xref: Orphanet:500548 {source="MONDO:equivalentTo"}
xref: UMLS:C3554665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615198"}
is_a: MONDO:0017198 {source="Orphanet:500548"} ! osteopetrosis (disease)
property_value: exactMatch http://identifiers.org/omim/615198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554665
property_value: exactMatch Orphanet:500548

[Term]
id: MONDO:0014081
name: severe combined immunodeficiency due to CARD11 deficiency
def: "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." [Orphanet:357237]
subset: ordo_disease {source="Orphanet:357237"}
synonym: "CARD11 immunodeficiency" RELATED [OMIM:615206]
synonym: "IMD11" RELATED [MONDO:Lexical, OMIM:615206]
synonym: "IMD11A" RELATED [OMIM:615206]
synonym: "immunodeficiency 11" RELATED [MONDO:Lexical, OMIM:615206]
synonym: "immunodeficiency 11; IMD11" RELATED [OMIM:615206]
synonym: "immunodeficiency 11; IMD11A" RELATED [OMIM:615206]
synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206]
synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237]
xref: ICD10:D81.2 {source="Orphanet:357237", source="ORDO:357237/attributed", source="ORDO:357237/ntbt"}
xref: OMIM:615206 {source="Orphanet:357237", source="ORDO:357237/e", source="MONDO:equivalentTo"}
xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"}
xref: UMLS:C3554686 {source="OMIM:615206", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0044201 {source="Orphanet:357237"} ! T+ B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554686
property_value: exactMatch Orphanet:357237

[Term]
id: MONDO:0014082
name: cryptosporidiosis-chronic cholangitis-liver disease syndrome
subset: ordo_disease {source="Orphanet:357329"}
synonym: "IL21R immunodeficiency" RELATED [OMIM:615207]
synonym: "IMD56" RELATED [OMIM:615207]
synonym: "immunodeficiency 56" RELATED [OMIM:615207]
synonym: "immunodeficiency 56; IMD56" RELATED [OMIM:615207]
xref: ICD10:D81.8 {source="ORDO:357329/attributed", source="ORDO:357329/ntbt", source="Orphanet:357329"}
xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="ORDO:357329/e"}
xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"}
xref: UMLS:C3554687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615207"}
is_a: MONDO:0018814 {source="Orphanet:357329"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554687
property_value: exactMatch Orphanet:357329

[Term]
id: MONDO:0014083
name: agammaglobulinemia 7, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 7, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615214]
synonym: "agammaglobulinemia 7, autosomal recessive; AGM7" RELATED [OMIM:615214]
synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [OMIM:615214]
synonym: "AGM7" RELATED [MONDO:Lexical, OMIM:615214]
synonym: "autosomal agammaglobulinemia caused by mutation in PIK3R1" EXACT [MONDO:design_pattern]
synonym: "PIK3R1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615214 {source="MONDO:equivalentTo"}
xref: UMLS:C3554689 {source="OMIM:615214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/615214
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554689

[Term]
id: MONDO:0014084
name: ataxia with oculomotor apraxia type 3
synonym: "AOA3" RELATED [MONDO:Lexical, OMIM:615217]
synonym: "ataxia-oculomotor apraxia 3" EXACT [DOID:0060557, MONDO:Lexical, OMIM:615217]
synonym: "ataxia-oculomotor apraxia 3; AOA3" RELATED [OMIM:615217]
synonym: "ataxia-oculomotor apraxia type 3" EXACT [MONDORULE:1, OMIM:615217]
synonym: "ataxia-oculomotor apraxia-3" RELATED [GARD:0013112]
xref: DOID:0060557 {source="MONDO:equivalentTo"}
xref: GARD:0013112 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"}
xref: UMLS:C3554690 {source="OMIM:615217", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018996 {source="ORDO:64753/btnt"} ! spinocerebellar ataxia with axonal neuropathy type 2
property_value: exactMatch DOID:0060557
property_value: exactMatch http://identifiers.org/omim/615217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554690

[Term]
id: MONDO:0014085
name: hydrocephalus, nonsyndromic, autosomal recessive 2
def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital hydrocephalus caused by mutation in MPDZ" EXACT [MONDO:design_pattern]
synonym: "HYC2" RELATED [MONDO:Lexical, OMIM:615219]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:615219]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2; HYC2" RELATED [OMIM:615219]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615219]
synonym: "MPDZ congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615219 {source="MONDO:equivalentTo"}
xref: UMLS:C3554691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615219"}
is_a: MONDO:0016349 {source="MONDO:Redundant", source="ORDO:2185/btnt"} ! congenital hydrocephalus
property_value: exactMatch http://identifiers.org/omim/615219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3554691

[Term]
id: MONDO:0014086
name: osteogenesis imperfecta type 15
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI, type 15" RELATED [OMIM:615220]
synonym: "OI15" EXACT [DOID:0110347, MONDO:Lexical, OMIM:615220]
synonym: "osteogenesis imperfecta caused by mutation in WNT1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XV" EXACT [DOID:0110347]
synonym: "osteogenesis imperfecta, type 15" RELATED [OMIM:615220]
synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical, OMIM:615220]
synonym: "osteogenesis imperfecta, type XV; OI15" RELATED [OMIM:615220]
synonym: "WNT1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110347 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="DOID:0110347", source="MONDO:subClassOf"}
xref: OMIM:615220 {source="DOID:0110347", source="MONDO:equivalentTo"}
xref: UMLS:C3808844 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615220"}
is_a: MONDO:0019019 {source="DC-OMIM:615220", source="DOID:0110347", source="MONDO:Redundant", source="OMIM:615220"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110347
property_value: exactMatch http://identifiers.org/omim/615220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808844

[Term]
id: MONDO:0014087
name: Smith-McCort dysplasia 2
def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "RAB33B Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Smc2" RELATED [MONDO:Lexical, OMIM:615222]
synonym: "Smith-McCort dysplasia 2" EXACT [MONDO:Lexical, OMIM:615222]
synonym: "SMITH-McCort dysplasia 2; Smc2" RELATED [OMIM:615222]
synonym: "Smith-McCort dysplasia caused by mutation in RAB33B" EXACT [MONDO:design_pattern]
synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1, OMIM:615222]
xref: OMIM:615222 {source="MONDO:equivalentTo"}
xref: UMLS:C3714896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615222"}
is_a: MONDO:0015799 {source="DC-OMIM:615222", source="MONDO:Redundant", source="OMIM:615222"} ! Smith-McCort dysplasia
property_value: exactMatch http://identifiers.org/omim/615222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714896

[Term]
id: MONDO:0014088
name: advanced sleep phase syndrome 2
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "advanced sleep phase syndrome caused by mutation in CSNK1D" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 2" EXACT [DOID:0110012, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical, OMIM:615224]
synonym: "advanced sleep phase syndrome, familial, 2; FASPS2" RELATED [OMIM:615224]
synonym: "advanced sleep phase syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615224]
synonym: "CSNK1D advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial advanced sleep phase syndrome 2" EXACT [DOID:0110012]
synonym: "FASPS2" EXACT [DOID:0110012, MONDO:Lexical, OMIM:615224]
xref: DOID:0110012 {source="MONDO:equivalentTo"}
xref: OMIM:615224 {source="MONDO:equivalentTo", source="DOID:0110012"}
xref: UMLS:C3808874 {source="OMIM:615224", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015609 {source="DC-OMIM:615224", source="DOID:0110012", source="MONDO:Redundant", source="OMIM:615224"} ! advanced sleep phase syndrome
property_value: exactMatch DOID:0110012
property_value: exactMatch http://identifiers.org/omim/615224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808874

[Term]
id: MONDO:0014089
name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
subset: ordo_disease {source="Orphanet:352662"}
synonym: "CIDED" RELATED [MONDO:Lexical, OMIM:615225]
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical, OMIM:615225]
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" RELATED [OMIM:615225]
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED" RELATED [OMIM:615225]
xref: ICD10:Q82.8 {source="Orphanet:352662", source="ORDO:352662/attributed", source="ORDO:352662/ntbt"}
xref: OMIM:615225 {source="ORDO:352662/e", source="Orphanet:352662", source="MONDO:equivalentTo"}
xref: Orphanet:352662 {source="OMIM:615225", source="MONDO:equivalentTo"}
xref: UMLS:CN204511 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020094 {source="Orphanet:352662"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0020212 {source="Orphanet:352662"} ! superficial corneal dystrophy
property_value: exactMatch http://identifiers.org/omim/615225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204511
property_value: exactMatch Orphanet:352662

[Term]
id: MONDO:0014090
name: polydactyly, postaxial, type A6
synonym: "PAPA6" RELATED [MONDO:Lexical, OMIM:615226]
synonym: "polydactyly, postaxial, type A6" EXACT [MONDO:Lexical, OMIM:615226]
synonym: "polydactyly, postaxial, type A6; PAPA6" RELATED [OMIM:615226]
xref: OMIM:615226 {source="MONDO:equivalentTo"}
xref: UMLS:C3808889 {source="OMIM:615226", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/omim/615226
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808889

[Term]
id: MONDO:0014091
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4
def: "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP5F1A mitochondrial complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC5DN4" EXACT [DOID:0060333, MONDO:Lexical, OMIM:615228]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5A1 type" RELATED [OMIM:615228]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" RELATED [OMIM:615228]
synonym: "mitochondrial complex deficiency caused by mutation in ATP5F1A" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615228]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; MC5DN4" RELATED [OMIM:615228]
xref: DOID:0060333 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="DOID:0060333"}
xref: OMIM:615228 {source="DOID:0060333", source="MONDO:equivalentTo"}
xref: UMLS:C3808899 {source="OMIM:615228", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000066 {source="DC-OMIM:615228", source="MONDO:Redundant"} ! mitochondrial complex deficiency
is_a: MONDO:0020727 ! combined oxidative phosphorylation deficiency 22
property_value: exactMatch DOID:0060333
property_value: exactMatch http://identifiers.org/omim/615228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808899

[Term]
id: MONDO:0014092
name: schizophrenia 18
def: "A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2." [DOID:0070093]
synonym: "chromosome 7q36.3 Duplication syndrome, 362-Kb" EXACT [DOID:0070093]
synonym: "schizoaffective disorder" RELATED [OMIM:615232]
synonym: "schizophrenia 18" EXACT [MONDO:Lexical, OMIM:615232]
synonym: "schizophrenia 18 with or without an affective disorder" RELATED [OMIM:615232]
synonym: "schizophrenia 18; SCZD18" RELATED [OMIM:615232]
synonym: "schizophrenia type 18" EXACT [MONDORULE:2, OMIM:615232]
synonym: "SCZD18" EXACT [DOID:0070093, MONDO:Lexical, OMIM:615232]
xref: DOID:0070093 {source="MONDO:equivalentTo"}
xref: OMIM:615232 {source="MONDO:equivalentTo", source="DOID:0070093"}
xref: UMLS:C3808913 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615232"}
is_a: MONDO:0005090 {source="DC-OMIM:615232", source="DOID:0070093", source="MONDO:Redundant"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036337
property_value: exactMatch DOID:0070093
property_value: exactMatch http://identifiers.org/omim/615232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808913

[Term]
id: MONDO:0014093
name: retinitis pigmentosa 66
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "RBP3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 66" EXACT [MONDO:Lexical, OMIM:615233]
synonym: "retinitis pigmentosa 66; RP66" RELATED [OMIM:615233]
synonym: "retinitis pigmentosa caused by mutation in RBP3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 66" EXACT [DOID:0110393, MONDORULE:2, OMIM:615233]
synonym: "RP66" EXACT [DOID:0110393, MONDO:Lexical, OMIM:615233]
xref: DOID:0110393 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110393"}
xref: OMIM:615233 {source="MONDO:equivalentTo", source="DOID:0110393"}
xref: UMLS:C3715216 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615233"}
is_a: MONDO:0019200 {source="DC-OMIM:615233", source="DOID:0110393", source="MONDO:Redundant", source="OMIM:615233"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110393
property_value: exactMatch http://identifiers.org/omim/615233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715216

[Term]
id: MONDO:0014094
name: severe congenital hypochromic anemia with ringed sideroblasts
def: "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." [Orphanet:300298]
subset: ordo_disease {source="Orphanet:300298"}
synonym: "AHMIO2" RELATED [MONDO:Lexical, OMIM:615234]
synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234]
synonym: "anemia, hypochromic microcytic, with iron overload 2; AHMIO2" RELATED [OMIM:615234]
synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234]
synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298]
xref: ICD10:D64.0 {source="Orphanet:300298", source="ORDO:300298/attributed", source="ORDO:300298/ntbt"}
xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="ORDO:300298/e"}
xref: Orphanet:300298 {source="OMIM:615234", source="MONDO:equivalentTo"}
xref: SCTID:725463007 {source="MONDO:equivalentTo"}
xref: UMLS:C3808920 {source="OMIM:615234", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4511137 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000104 {source="DC-OMIM:615234", source="OMIM:615234"} ! anemia, hypochromic microcytic with iron overload
is_a: MONDO:0020098 {source="Orphanet:300298"} ! constitutional anemia due to iron metabolism disorder
is_a: MONDO:0020099 {source="Orphanet:300298"} ! constitutional sideroblastic anemia
property_value: exactMatch http://identifiers.org/omim/615234
property_value: exactMatch http://identifiers.org/snomedct/725463007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511137
property_value: exactMatch Orphanet:300298

[Term]
id: MONDO:0014095
name: dilated cardiomyopathy 1JJ
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1JJ" RELATED [MONDO:Lexical, OMIM:615235]
synonym: "cardiomyopathy, dilated, 1JJ; CMD1JJ" RELATED [OMIM:615235]
synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9, OMIM:615235]
synonym: "CMD1JJ" EXACT [DOID:0110438, MONDO:Lexical, OMIM:615235]
synonym: "dilated cardiomyopathy type 1JJ" EXACT [DOID:0110438, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" EXACT [MONDO:design_pattern]
synonym: "LAMA4 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110438 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110438"}
xref: OMIM:615235 {source="DOID:0110438", source="MONDO:equivalentTo"}
xref: UMLS:C3808935 {source="OMIM:615235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110438
property_value: exactMatch http://identifiers.org/omim/615235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808935

[Term]
id: MONDO:0014096
name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
def: "This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." [Orphanet:137658]
subset: gard_rare {source="GARD:0003498"}
subset: ordo_malformation_syndrome {source="Orphanet:137658"}
synonym: "WOODS syndrome" RELATED [OMIM:615236]
synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658]
xref: GARD:0003498 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:137658/attributed", source="ORDO:137658/ntbt", source="Orphanet:137658"}
xref: OMIM:615236 {source="ORDO:137658/e", source="MONDO:equivalentTo", source="Orphanet:137658"}
xref: Orphanet:137658 {source="OMIM:615236", source="MONDO:equivalentTo"}
xref: SCTID:719396000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C0796203 {source="OMIM:615236", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:137658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:137658"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/615236
property_value: exactMatch http://identifiers.org/snomedct/719396000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796203
property_value: exactMatch Orphanet:137658
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome xsd:anyURI {source="GARD:0003498"}

[Term]
id: MONDO:0014097
name: congenital short bowel syndrome
def: "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." [Orphanet:2301]
subset: ordo_morphological_anomaly {source="Orphanet:2301"}
synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237]
synonym: "congenital short bowel syndrome; CSBS" EXACT [OMIM:615237]
synonym: "CSBS" EXACT [MONDO:Lexical, OMIM:615237]
xref: ICD10:Q43.8 {source="Orphanet:2301", source="ORDO:2301/attributed", source="ORDO:2301/ntbt"}
xref: Orphanet:2301 {source="OMIM:615237", source="MONDO:equivalentTo"}
xref: SCTID:715201005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015211 {source="Orphanet:2301"} ! non-syndromic intestinal malformation
is_a: MONDO:0018241 {source="Orphanet:2301"} ! primary short bowel syndrome
property_value: exactMatch http://identifiers.org/snomedct/715201005
property_value: exactMatch Orphanet:2301

[Term]
id: MONDO:0014098
name: CIDEC-related familial partial lipodystrophy
subset: ordo_disease {source="Orphanet:435651"}
synonym: "CIDEC-related FPLD" EXACT [Orphanet:435651]
synonym: "FPLD5" EXACT [MONDO:Lexical, OMIM:615238, Orphanet:435651]
synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELATED [OMIM:615238]
synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical, OMIM:615238]
synonym: "lipodystrophy, familial partial, type 5; FPLD5" RELATED [OMIM:615238]
xref: DOID:0070203 {source="MONDO:equivalentTo"}
xref: GARD:0013125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.1 {source="ORDO:435651/attributed", source="ORDO:435651/ntbt", source="Orphanet:435651"}
xref: OMIM:615238 {source="MONDO:equivalentTo", source="ORDO:435651/e", source="Orphanet:435651"}
xref: Orphanet:435651 {source="MONDO:equivalentTo"}
xref: UMLS:C3808940 {source="NCBI:mim2gene_medline", source="OMIM:615238", source="MONDO:equivalentTo"}
is_a: MONDO:0020088 {source="DC-OMIM:615238", source="MONDOLEX:0014098", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy
property_value: exactMatch DOID:0070203
property_value: exactMatch http://identifiers.org/omim/615238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808940
property_value: exactMatch Orphanet:435651

[Term]
id: MONDO:0014099
name: nephrotic syndrome, type 8
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARHGDIA nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in ARHGDIA" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 8" EXACT [MONDO:Lexical, OMIM:615244]
synonym: "nephrotic syndrome, type 8; NPHS8" RELATED [OMIM:615244]
synonym: "NPHS8" RELATED [MONDO:Lexical, OMIM:615244]
xref: OMIM:615244 {source="MONDO:equivalentTo"}
xref: UMLS:C3808953 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615244"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/615244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808953

[Term]
id: MONDO:0014100
name: dilated cardiomyopathy 1KK
def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "cardiomyopathy, dilated, 1KK" RELATED [MONDO:Lexical, OMIM:615248]
synonym: "cardiomyopathy, dilated, 1KK; CMD1KK" RELATED [OMIM:615248]
synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9, OMIM:615248]
synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [OMIM:615248]
synonym: "cardiomyopathy, familial restrictive, 4" RELATED [OMIM:615248]
synonym: "CMD1KK" EXACT [DOID:0110445, MONDO:Lexical, OMIM:615248]
synonym: "dilated cardiomyopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern]
synonym: "dilated cardiomyopathy type 1KK" EXACT [DOID:0110445, MONDORULE:9]
synonym: "MYPN dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110445 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110445"}
xref: OMIM:615248 {source="DOID:0110445", source="MONDO:equivalentTo"}
is_a: MONDO:0005021 {source="DC-OMIM:615248", source="DOID:0110445", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy
is_a: MONDO:0005045 {source="DC-OMIM:615248"} ! hypertrophic cardiomyopathy
is_a: MONDO:0005201 {source="DC-OMIM:615248"} ! restrictive cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714995
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714998
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808963
property_value: closeMatch Orphanet:155
property_value: exactMatch DOID:0110445
property_value: exactMatch http://identifiers.org/omim/615248

[Term]
id: MONDO:0014101
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA12" RELATED [MONDO:Lexical, OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12" RELATED [OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" EXACT [MONDO:design_pattern]
synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [OMIM:615249]
xref: OMIM:615249 {source="MONDO:equivalentTo"}
xref: UMLS:C3808964 {source="NCBI:mim2gene_medline", source="OMIM:615249", source="MONDO:equivalentTo"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/615249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808964

[Term]
id: MONDO:0014102
name: hypogonadotropic hypogonadism 17 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH17" RELATED [MONDO:Lexical, OMIM:615266]
synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615266]
synonym: "hypogonadotropic hypogonadism 17 with or without anosmia; HH17" RELATED [OMIM:615266]
synonym: "hypogonadotropic hypogonadism caused by mutation in SPRY4" EXACT [MONDO:design_pattern]
synonym: "SPRY4 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090079 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090079"}
xref: OMIM:615266 {source="MONDO:equivalentTo", source="DOID:0090079"}
xref: UMLS:C3808971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615266"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090079
property_value: exactMatch http://identifiers.org/omim/615266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808971

[Term]
id: MONDO:0014103
name: hypogonadotropic hypogonadism 18 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HH18" RELATED [MONDO:Lexical, OMIM:615267]
synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615267]
synonym: "hypogonadotropic hypogonadism 18 with or without anosmia; HH18" RELATED [OMIM:615267]
synonym: "hypogonadotropic hypogonadism caused by mutation in IL17RD" EXACT [MONDO:design_pattern]
synonym: "IL17RD hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090076 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="DOID:0090076", source="MONDO:relatedTo"}
xref: OMIM:615267 {source="DOID:0090076", source="MONDO:equivalentTo"}
xref: UMLS:C3808975 {source="OMIM:615267", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090076
property_value: exactMatch http://identifiers.org/omim/615267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808975

[Term]
id: MONDO:0014104
name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP8A2 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ4" RELATED [MONDO:Lexical, OMIM:615268]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" RELATED [OMIM:615268]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT [MONDO:Lexical, OMIM:615268]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; CAMRQ4" RELATED [OMIM:615268]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT [MONDORULE:1, OMIM:615268]
synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:design_pattern]
xref: OMIM:615268 {source="MONDO:equivalentTo"}
xref: UMLS:C3808977 {source="OMIM:615268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:615268", source="ORDO:1766/btnt"} ! dysequilibrium syndrome
property_value: exactMatch http://identifiers.org/omim/615268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808977

[Term]
id: MONDO:0014105
name: hypogonadotropic hypogonadism 19 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DUSP6 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH19" RELATED [MONDO:Lexical, OMIM:615269]
synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615269]
synonym: "hypogonadotropic hypogonadism 19 with or without anosmia; HH19" RELATED [OMIM:615269]
synonym: "hypogonadotropic hypogonadism caused by mutation in DUSP6" EXACT [MONDO:design_pattern]
xref: DOID:0090090 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090090"}
xref: OMIM:615269 {source="MONDO:equivalentTo", source="DOID:0090090"}
xref: UMLS:C3808981 {source="OMIM:615269", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090090
property_value: exactMatch http://identifiers.org/omim/615269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808981

[Term]
id: MONDO:0014106
name: hypogonadotropic hypogonadism 20 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FGF17 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH20" RELATED [MONDO:Lexical, OMIM:615270]
synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615270]
synonym: "hypogonadotropic hypogonadism 20 with or without anosmia; HH20" RELATED [OMIM:615270]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGF17" EXACT [MONDO:design_pattern]
xref: DOID:0090082 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090082"}
xref: OMIM:615270 {source="MONDO:equivalentTo", source="DOID:0090082"}
xref: UMLS:C3808983 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615270"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090082
property_value: exactMatch http://identifiers.org/omim/615270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808983

[Term]
id: MONDO:0014107
name: hypogonadotropic hypogonadism 21 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FLRT3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH21" RELATED [MONDO:Lexical, OMIM:615271]
synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615271]
synonym: "hypogonadotropic hypogonadism 21 with or without anosmia; HH21" RELATED [OMIM:615271]
synonym: "hypogonadotropic hypogonadism caused by mutation in FLRT3" EXACT [MONDO:design_pattern]
xref: DOID:0090093 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090093"}
xref: OMIM:615271 {source="MONDO:equivalentTo", source="DOID:0090093"}
xref: UMLS:C3808986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615271"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090093
property_value: exactMatch http://identifiers.org/omim/615271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808986

[Term]
id: MONDO:0014108
name: Fanconi anemia complementation group Q
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in ERCC4" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type Q" EXACT [DOID:0111093, MONDORULE:1]
synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical, OMIM:615272]
synonym: "Fanconi anemia, complementation group Q; FANCQ" RELATED [OMIM:615272]
synonym: "Fanconi Anemia, complementation group type Q" EXACT [MONDORULE:1, OMIM:615272]
synonym: "FANCQ" EXACT [DOID:0111093, MONDO:Lexical, OMIM:615272]
xref: DOID:0111093 {source="MONDO:equivalentTo"}
xref: OMIM:615272 {source="DOID:0111093", source="MONDO:equivalentTo"}
xref: UMLS:C3808988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615272"}
is_a: MONDO:0019391 {source="DC-OMIM:615272", source="DOID:0111093", source="MONDO:Redundant", source="OMIM:615272"} ! Fanconi anemia
property_value: exactMatch DOID:0111093
property_value: exactMatch http://identifiers.org/omim/615272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808988

[Term]
id: MONDO:0014109
name: NGLY1-deficiency
def: "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." [NCIT:C126746]
subset: clingen
subset: ordo_disease {source="Orphanet:404454"}
synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [Orphanet:404454]
synonym: "CDDG" RELATED [MONDO:Lexical, OMIM:615273]
synonym: "CDG IV" RELATED [OMIM:615273]
synonym: "CDG IV, formerly" RELATED [OMIM:615273]
synonym: "congenital disorder of deglycosylation" EXACT [DOID:0060728, MONDO:Lexical, OMIM:615273]
synonym: "congenital disorder of deglycosylation; CDDG" RELATED [OMIM:615273]
synonym: "congenital disorder of deglycosylation;CDDG" RELATED [GARD:0012315]
synonym: "congenital disorder of glycosylation type IV" EXACT [DOID:0060728]
synonym: "congenital disorder of glycosylation type IV; CDG1V" RELATED [GARD:0012315]
synonym: "congenital disorder of glycosylation, type IV" RELATED [OMIM:615273]
synonym: "congenital disorder of glycosylation, type IV, formerly" RELATED [OMIM:615273]
synonym: "deficiency of N-glycanase 1" EXACT [DOID:0060728]
synonym: "NGLY1 deficiency" EXACT [Orphanet:404454]
synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454]
xref: DOID:0060728 {source="MONDO:equivalentTo"}
xref: GARD:0012315 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="Orphanet:404454", source="ORDO:404454/attributed", source="ORDO:404454/ntbt", source="DOID:0060728"}
xref: NCIT:C126746 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:615273 {source="MONDO:equivalentTo", source="Orphanet:404454", source="ORDO:404454/e", source="DOID:0060728"}
xref: Orphanet:404454 {source="MONDO:equivalentTo", source="OMIM:615273", source="DOID:0060728"}
xref: SCTID:768846004 {source="MONDO:equivalentTo"}
xref: UMLS:C3808991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615273", source="NCIT:C126746"}
is_a: MONDO:0000508 {source="Orphanet:404454"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019214 {source="DOID:0060728"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019602 {source="Orphanet:404454"} ! other inborn metabolic disease
is_a: MONDO:0044976 ! disease of catalytic activity
is_a: MONDO:0045010 ! glycoprotein metabolism disease
property_value: exactMatch DOID:0060728
property_value: exactMatch http://identifiers.org/omim/615273
property_value: exactMatch http://identifiers.org/snomedct/768846004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808991
property_value: exactMatch NCIT:C126746
property_value: exactMatch Orphanet:404454

[Term]
id: MONDO:0014110
name: cataract 15 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 15, multiple types" RELATED [MONDO:Lexical, OMIM:615274]
synonym: "cataract 15, multiple types; CTRCT15" RELATED [OMIM:615274]
synonym: "CTRCT15" EXACT [DOID:0110251, MONDO:Lexical, OMIM:615274]
synonym: "early-onset non-syndromic cataract caused by mutation in MIP" EXACT [MONDO:design_pattern]
synonym: "MIP early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110251 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110251"}
xref: OMIM:615274 {source="MONDO:equivalentTo", source="DOID:0110251"}
xref: UMLS:C3809001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615274"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110251
property_value: exactMatch http://identifiers.org/omim/615274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809001

[Term]
id: MONDO:0014111
name: cataract 19 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 19" RELATED [MONDO:Lexical, OMIM:615277]
synonym: "cataract 19, multiple types" RELATED [OMIM:615277]
synonym: "cataract 19, multiple types; CTRCT19" RELATED [OMIM:615277]
synonym: "cataract 19; CTRCT19" RELATED [OMIM:615277]
synonym: "cataract type 19" EXACT [MONDORULE:2, OMIM:615277]
synonym: "CTRCT19" EXACT [DOID:0110263, MONDO:Lexical, OMIM:615277]
synonym: "early-onset non-syndromic cataract caused by mutation in LIM2" EXACT [MONDO:design_pattern]
synonym: "LIM2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110263 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110263"}
xref: OMIM:615277 {source="MONDO:equivalentTo", source="DOID:0110263"}
xref: UMLS:C3809004 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615277"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110263
property_value: exactMatch http://identifiers.org/omim/615277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809004

[Term]
id: MONDO:0014112
name: cardiofaciocutaneous syndrome 2
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiofaciocutaneous syndrome 2" EXACT [MONDO:Lexical, OMIM:615278]
synonym: "cardiofaciocutaneous syndrome 2; CFC2" RELATED [OMIM:615278]
synonym: "cardiofaciocutaneous syndrome caused by mutation in KRAS" EXACT []
synonym: "cardiofaciocutaneous syndrome caused by mutation in kras" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 2" EXACT [MONDORULE:1, OMIM:615278]
synonym: "CFC2" RELATED [MONDO:Lexical, OMIM:615278]
synonym: "KRAS cardiofaciocutaneous syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "kras cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern]
xref: OMIM:615278 {source="MONDO:equivalentTo"}
xref: UMLS:C3809005 {source="OMIM:615278", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015280 {source="DC-OMIM:615278", source="MONDO:Redundant", source="OMIM:615278"} ! cardiofaciocutaneous syndrome
property_value: exactMatch http://identifiers.org/omim/615278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809005

[Term]
id: MONDO:0014113
name: cardiofaciocutaneous syndrome 3
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiofaciocutaneous syndrome 3" EXACT [MONDO:Lexical, OMIM:615279]
synonym: "cardiofaciocutaneous syndrome 3; CFC3" RELATED [OMIM:615279]
synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1, OMIM:615279]
synonym: "CFC3" RELATED [MONDO:Lexical, OMIM:615279]
synonym: "MAP2K1 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615279 {source="MONDO:equivalentTo"}
xref: UMLS:C3809006 {source="OMIM:615279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015280 {source="DC-OMIM:615279", source="MONDO:Redundant", source="OMIM:615279"} ! cardiofaciocutaneous syndrome
property_value: exactMatch http://identifiers.org/omim/615279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809006

[Term]
id: MONDO:0014114
name: cardiofaciocutaneous syndrome 4
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiofaciocutaneous syndrome 4" EXACT [MONDO:Lexical, OMIM:615280]
synonym: "cardiofaciocutaneous syndrome 4; CFC4" RELATED [OMIM:615280]
synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K2" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1, OMIM:615280]
synonym: "CFC4" RELATED [MONDO:Lexical, OMIM:615280]
synonym: "MAP2K2 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615280 {source="MONDO:equivalentTo"}
xref: UMLS:C3809007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615280"}
is_a: MONDO:0015280 {source="DC-OMIM:615280", source="MONDO:Redundant", source="OMIM:615280"} ! cardiofaciocutaneous syndrome
property_value: exactMatch http://identifiers.org/omim/615280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809007

[Term]
id: MONDO:0014115
name: hypomyelination with brain stem and spinal cord involvement and leg spasticity
subset: ordo_disease {source="Orphanet:363412"}
synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281]
synonym: "HBSL" EXACT [MONDO:Lexical, OMIM:615281, Orphanet:363412]
synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281]
synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity; HBSL" RELATED [OMIM:615281]
xref: ICD10:E75.2 {source="ORDO:363412/attributed", source="ORDO:363412/ntbt", source="Orphanet:363412"}
xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="ORDO:363412/e"}
xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"}
xref: UMLS:C3809008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615281"}
is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/615281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809008
property_value: exactMatch Orphanet:363412

[Term]
id: MONDO:0014116
name: complex cortical dysplasia with other brain malformations 2
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM2" EXACT [DOID:0090133, MONDO:Lexical, OMIM:615282]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 2" EXACT [DOID:0090133, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 2" RELATED [MONDO:Lexical, OMIM:615282]
synonym: "cortical dysplasia, complex, with other brain malformations 2; CDCBM2" RELATED [OMIM:615282]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 2" EXACT [MONDORULE:1, OMIM:615282]
synonym: "KIF5C complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090133 {source="MONDO:equivalentTo"}
xref: OMIM:615282 {source="DOID:0090133", source="MONDO:equivalentTo"}
xref: UMLS:C3809013 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615282"}
is_a: MONDO:0000904 {source="DOID:0090133", source="MONDO:Redundant", source="OMIM:615282"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0090133
property_value: exactMatch http://identifiers.org/omim/615282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809013

[Term]
id: MONDO:0014117
name: Charcot-Marie-Tooth disease type 4B3
def: "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." [Orphanet:363981]
subset: ordo_disease {source="Orphanet:363981"}
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981]
synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:615284]
synonym: "Charcot-Marie-Tooth disease, type 4B3; CMT4B3" RELATED [OMIM:615284]
synonym: "CMT4B3" EXACT [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981]
synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110194 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:363981", source="DOID:0110194", source="ORDO:363981/attributed", source="ORDO:363981/ntbt"}
xref: OMIM:615284 {source="ORDO:363981/e", source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo"}
xref: Orphanet:363981 {source="DOID:0110194", source="MONDO:equivalentTo", source="OMIM:615284"}
xref: SCTID:763345008 {source="MONDO:equivalentTo"}
xref: UMLS:C3695063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615284"}
is_a: MONDO:0018995 {source="DOID:0110194", source="MONDO:Redundant", source="Orphanet:363981"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110194
property_value: exactMatch http://identifiers.org/omim/615284
property_value: exactMatch http://identifiers.org/snomedct/763345008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3695063
property_value: exactMatch Orphanet:363981

[Term]
id: MONDO:0014118
name: congenital neutropenia-myelofibrosis-nephromegaly syndrome
subset: ordo_disease {source="Orphanet:369852"}
synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [Orphanet:369852]
synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285]
synonym: "neutropenia, severe congenital, 5, autosomal recessive; SCN5" RELATED [OMIM:615285]
synonym: "SCN5" RELATED [MONDO:Lexical, OMIM:615285]
synonym: "vps45 deficiency" EXACT [Orphanet:369852]
xref: ICD10:D70 {source="MONDO:subClassOf", source="Orphanet:369852", source="ORDO:369852/attributed", source="ORDO:369852/ntbt"}
xref: OMIM:615285 {source="Orphanet:369852", source="ORDO:369852/e", source="MONDO:equivalentTo"}
xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"}
xref: UMLS:C3809031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615285"}
is_a: MONDO:0018032 {source="Orphanet:369852"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: exactMatch http://identifiers.org/omim/615285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809031
property_value: exactMatch Orphanet:369852

[Term]
id: MONDO:0014119
name: intellectual disability-strabismus syndrome
subset: ordo_disease {source="Orphanet:363528"}
synonym: "mental retardation, autosomal recessive 36" RELATED [MONDO:Lexical, OMIM:615286]
synonym: "mental retardation, autosomal recessive 36; MRT36" RELATED [OMIM:615286]
synonym: "mental retardation, autosomal recessive type 36" EXACT [MONDORULE:2, OMIM:615286]
synonym: "MRT36" RELATED [MONDO:Lexical, OMIM:615286]
xref: ICD10:H50.8 {source="Orphanet:363528", source="ORDO:363528/attributed", source="ORDO:363528/ntbt"}
xref: OMIM:615286 {source="MONDO:equivalentTo", source="Orphanet:363528", source="ORDO:363528/e"}
xref: Orphanet:363528 {source="MONDO:equivalentTo", source="OMIM:615286"}
xref: UMLS:C3809039 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615286"}
is_a: MONDO:0000508 {source="Orphanet:363528"} ! syndromic intellectual disability
is_a: MONDO:0020253 {source="Orphanet:363528"} ! syndrome with a symptomatic strabismus
property_value: exactMatch http://identifiers.org/omim/615286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809039
property_value: exactMatch Orphanet:363528

[Term]
id: MONDO:0014120
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
synonym: "MDDGA13" RELATED [MONDO:Lexical, OMIM:615287]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical, OMIM:615287]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13; MDDGA13" RELATED [OMIM:615287]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [OMIM:615287]
xref: OMIM:615287 {source="MONDO:equivalentTo"}
xref: UMLS:C3809042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615287"}
is_a: MONDO:0000171 {source="OMIM:615287"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/615287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809042

[Term]
id: MONDO:0014121
name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
subset: ordo_clinical_subtype {source="Orphanet:363454"}
synonym: "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2" RELATED [GARD:0013222]
synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [Orphanet:363454]
synonym: "SMALED2" EXACT [MONDO:Lexical, OMIM:615290, Orphanet:363454]
synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" RELATED [GARD:0013222]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant; SMALED2" RELATED [OMIM:615290]
xref: GARD:0013222 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G12.1 {source="Orphanet:363454", source="ORDO:363454/attributed", source="ORDO:363454/ntbt"}
xref: OMIM:615290 {source="Orphanet:363454", source="ORDO:363454/e", source="MONDO:equivalentTo"}
xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"}
xref: UMLS:C3809049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615290"}
is_a: MONDO:0018190 {source="MONDOLEX:0014121", source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
property_value: exactMatch http://identifiers.org/omim/615290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809049
property_value: exactMatch Orphanet:363454

[Term]
id: MONDO:0014122
name: myofibromatosis, infantile, 2
def: "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMF2" RELATED [MONDO:Lexical, OMIM:615293]
synonym: "myofibromatosis caused by mutation in NOTCH3" EXACT [MONDO:design_pattern]
synonym: "myofibromatosis, infantile, 2" EXACT [MONDO:Lexical, OMIM:615293]
synonym: "myofibromatosis, infantile, 2; IMF2" RELATED [OMIM:615293]
synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1, OMIM:615293]
synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615293 {source="MONDO:equivalentTo"}
xref: UMLS:C3809084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615293"}
is_a: MONDO:0016824 {source="DC-OMIM:615293", source="MONDO:Redundant", source="OMIM:615293"} ! myofibromatosis
property_value: exactMatch http://identifiers.org/omim/615293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809084

[Term]
id: MONDO:0014123
name: primary ciliary dyskinesia 21
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD21" EXACT [DOID:0110596, MONDO:Lexical, OMIM:615294]
synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical, OMIM:615294]
synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [OMIM:615294]
synonym: "ciliary dyskinesia, primary, 21; CILD21" RELATED [OMIM:615294]
synonym: "ciliary dyskinesia, primary, type 21" EXACT [MONDORULE:2, OMIM:615294]
synonym: "DRC1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [DOID:0110596]
synonym: "primary ciliary dyskinesia caused by mutation in DRC1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 21" EXACT [DOID:0110596, MONDORULE:2]
xref: DOID:0110596 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110596"}
xref: OMIM:615294 {source="MONDO:equivalentTo", source="DOID:0110596"}
xref: UMLS:C3809087 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615294"}
is_a: MONDO:0016575 {source="DC-OMIM:615294", source="DOID:0110596", source="MONDO:Redundant", source="MONDOLEX:0014123", source="OMIM:615294"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110596
property_value: exactMatch http://identifiers.org/omim/615294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809087

[Term]
id: MONDO:0014124
name: Adams-Oliver syndrome 4
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Adams-Oliver syndrome 4" EXACT [MONDO:Lexical, OMIM:615297]
synonym: "Adams-Oliver syndrome 4; AOS4" RELATED [OMIM:615297]
synonym: "Adams-Oliver syndrome caused by mutation in EOGT" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1, OMIM:615297]
synonym: "AOS4" RELATED [MONDO:Lexical, OMIM:615297]
synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615297 {source="MONDO:equivalentTo"}
xref: UMLS:C3809092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615297"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:615297", source="ORDO:974/btnt"} ! Adams-Oliver syndrome
property_value: exactMatch http://identifiers.org/omim/615297
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809092

[Term]
id: MONDO:0014125
name: symphalangism, proximal, 1B
def: "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF5 proximal symphalangism (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "proximal symphalangism (disease) caused by mutation in GDF5" EXACT []
synonym: "SYM1B" RELATED [MONDO:Lexical, OMIM:615298]
synonym: "symphalangism, proximal, 1B" EXACT [MONDO:Lexical, OMIM:615298]
synonym: "symphalangism, proximal, 1B; SYM1B" RELATED [OMIM:615298]
synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4, OMIM:615298]
xref: OMIM:615298 {source="MONDO:equivalentTo"}
xref: UMLS:C3809104 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615298"}
is_a: MONDO:0008511 {source="MONDO:Redundant", source="MONDOLEX:0014125", source="OMIM:615298", source="ORDO:3250/btnt"} ! proximal symphalangism (disease)
property_value: exactMatch http://identifiers.org/omim/615298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809104

[Term]
id: MONDO:0014126
name: Perrault syndrome 4
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Perrault syndrome 4" EXACT [MONDO:Lexical, OMIM:615300]
synonym: "Perrault syndrome 4; PRLTS4" RELATED [OMIM:615300]
synonym: "Perrault syndrome caused by mutation in LARS2" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1, OMIM:615300]
synonym: "PRLTS4" RELATED [MONDO:Lexical, OMIM:615300]
xref: OMIM:615300 {source="MONDO:equivalentTo"}
xref: UMLS:C3809105 {source="OMIM:615300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017312 {source="DC-OMIM:615300", source="MONDO:Redundant", source="OMIM:615300"} ! Perrault syndrome
property_value: exactMatch http://identifiers.org/omim/615300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809105

[Term]
id: MONDO:0014127
name: oculocutaneous albinism type 5
def: "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." [Orphanet:370091]
subset: ordo_disease {source="Orphanet:370091"}
synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312]
synonym: "albinism, oculocutaneous, type V; OCA5" RELATED [OMIM:615312]
synonym: "OCA5" EXACT [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091]
synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099]
xref: DOID:0070099 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:370091/attributed", source="ORDO:370091/ntbt", source="Orphanet:370091"}
xref: OMIM:615312 {source="DOID:0070099", source="MONDO:equivalentTo", source="ORDO:370091/e", source="Orphanet:370091"}
xref: Orphanet:370091 {source="OMIM:615312", source="MONDO:equivalentTo"}
xref: SCTID:722057000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN204842 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018910 {source="DC-OMIM:615312", source="DOID:0070099", source="OMIM:615312", source="Orphanet:370091", source="linkedlifedata"} ! oculocutaneous albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809110
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888401
property_value: exactMatch DOID:0070099
property_value: exactMatch http://identifiers.org/omim/615312
property_value: exactMatch http://identifiers.org/snomedct/722057000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204842
property_value: exactMatch Orphanet:370091

[Term]
id: MONDO:0014128
name: craniosynostosis 3
def: "Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314]
synonym: "craniosynostosis 3; CRS3" RELATED [OMIM:615314]
synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314]
synonym: "CRS3" RELATED [MONDO:Lexical, OMIM:615314]
synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615314 {source="MONDO:equivalentTo"}
xref: UMLS:C3715051 {source="OMIM:615314", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly
is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly
property_value: exactMatch http://identifiers.org/omim/615314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715051

[Term]
id: MONDO:0014129
name: autosomal recessive limb-girdle muscular dystrophy type 2R
def: "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." [Orphanet:363543]
subset: ordo_disease {source="Orphanet:363543"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" EXACT [DOID:0110286, Orphanet:363543]
synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2R" EXACT [DOID:0110286, MONDO:Lexical, OMIM:615325, Orphanet:363543]
synonym: "muscular dystrophy, limb-girdle, type 2R" EXACT [DOID:0110286, MONDO:Lexical, OMIM:615325]
synonym: "muscular dystrophy, limb-girdle, type 2R; LGMD2R" RELATED [OMIM:615325]
xref: DOID:0110286 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:363543/attributed", source="ORDO:363543/ntbt", source="Orphanet:363543", source="DOID:0110286"}
xref: OMIM:615325 {source="ORDO:363543/e", source="MONDO:equivalentTo", source="Orphanet:363543", source="DOID:0110286"}
xref: Orphanet:363543 {source="OMIM:615325", source="MONDO:equivalentTo", source="DOID:0110286"}
xref: UMLS:C3809137 {source="OMIM:615325", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="DOID:0110286", source="MONDO:Redundant", source="MONDOLEX:0014129", source="OMIM:615325", source="Orphanet:363543"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016187 {source="Orphanet:363543"} ! qualitative or quantitative defects of desmin
property_value: exactMatch DOID:0110286
property_value: exactMatch http://identifiers.org/omim/615325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809137
property_value: exactMatch Orphanet:363543

[Term]
id: MONDO:0014130
name: Dowling-Degos disease 2
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DDD2" RELATED [MONDO:Lexical, OMIM:615327]
synonym: "Dowling-Degos disease 2" EXACT [MONDO:Lexical, OMIM:615327]
synonym: "Dowling-Degos disease 2; DDD2" RELATED [OMIM:615327]
synonym: "Dowling-Degos disease caused by mutation in POFUT1" EXACT [MONDO:design_pattern]
synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1, OMIM:615327]
synonym: "POFUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615327 {source="MONDO:equivalentTo"}
xref: UMLS:C3809147 {source="OMIM:615327", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008371 {source="MONDO:Redundant", source="ORDO:79145/btnt"} ! Dowling-Degos disease
property_value: exactMatch http://identifiers.org/omim/615327
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809147

[Term]
id: MONDO:0014131
name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:363523"}
synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328]
synonym: "SHAHEEN syndrome; SHNS" RELATED [OMIM:615328]
synonym: "SHNS" RELATED [MONDO:Lexical, OMIM:615328]
xref: ICD10:Q82.8 {source="ORDO:363523/attributed", source="ORDO:363523/ntbt", source="Orphanet:363523"}
xref: OMIM:615328 {source="MONDO:equivalentTo", source="ORDO:363523/e", source="Orphanet:363523"}
xref: Orphanet:363523 {source="MONDO:equivalentTo", source="OMIM:615328"}
xref: UMLS:C3809160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615328"}
is_a: MONDO:0000508 {source="Orphanet:363523"} ! syndromic intellectual disability
is_a: MONDO:0017671 {source="Orphanet:363523"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020014 {source="Orphanet:363523"} ! rare disease with odontological manifestation
property_value: exactMatch http://identifiers.org/omim/615328
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809160
property_value: exactMatch Orphanet:363523

[Term]
id: MONDO:0014132
name: multiple mitochondrial dysfunctions syndrome 3
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:363424"}
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern]
synonym: "IBA57 deficiency" EXACT [Orphanet:363424]
synonym: "IBA57 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MMDS3" RELATED [MONDO:Lexical, OMIM:615330]
synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330]
synonym: "multiple mitochondrial dysfunctions syndrome 3; MMDS3" RELATED [OMIM:615330]
synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330]
xref: DOID:0080135 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="ORDO:363424/attributed", source="ORDO:363424/ntbt", source="Orphanet:363424"}
xref: OMIM:615330 {source="MONDO:equivalentTo", source="ORDO:363424/e", source="DOID:0080135", source="Orphanet:363424"}
xref: Orphanet:363424 {source="MONDO:equivalentTo", source="OMIM:615330"}
xref: UMLS:C3809165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615330"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome
property_value: exactMatch DOID:0080135
property_value: exactMatch http://identifiers.org/omim/615330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809165
property_value: exactMatch Orphanet:363424

[Term]
id: MONDO:0014133
name: epileptic encephalopathy, early infantile, 16
synonym: "EIEE16" RELATED [MONDO:Lexical, OMIM:615338]
synonym: "epileptic encephalopathy, early infantile, 16" EXACT [MONDO:Lexical, OMIM:615338]
synonym: "epileptic encephalopathy, early infantile, 16; EIEE16" RELATED [OMIM:615338]
synonym: "epileptic encephalopathy, early infantile, type 16" EXACT [MONDORULE:2, OMIM:615338]
xref: OMIM:615338 {source="MONDO:equivalentTo"}
xref: UMLS:C3809173 {source="OMIM:615338", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:615338", source="OMIM:615338"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy
property_value: exactMatch http://identifiers.org/omim/615338
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809173

[Term]
id: MONDO:0014134
name: pulmonary hypertension, primary, 2
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PPH2" RELATED [MONDO:Lexical, OMIM:615342]
synonym: "primary pulmonary hypertension caused by mutation in SMAD9" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 2" EXACT [MONDO:Lexical, OMIM:615342]
synonym: "pulmonary hypertension, primary, 2; PPH2" RELATED [OMIM:615342]
synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1, OMIM:615342]
synonym: "SMAD9 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615342 {source="MONDO:equivalentTo"}
xref: UMLS:C3888002 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008347 {source="ORDO:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1423690
property_value: exactMatch http://identifiers.org/omim/615342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888002

[Term]
id: MONDO:0014135
name: pulmonary hypertension, primary, 3
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAV1 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPH3" RELATED [MONDO:Lexical, OMIM:615343]
synonym: "primary pulmonary hypertension caused by mutation in CAV1" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 3" EXACT [MONDO:Lexical, OMIM:615343]
synonym: "pulmonary hypertension, primary, 3; PPH3" RELATED [OMIM:615343]
synonym: "pulmonary hypertension, primary, type 3" EXACT [MONDORULE:1, OMIM:615343]
xref: OMIM:615343 {source="MONDO:equivalentTo"}
xref: UMLS:C3809192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615343"}
is_a: MONDO:0008347 {source="ORDO:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: exactMatch http://identifiers.org/omim/615343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809192

[Term]
id: MONDO:0014136
name: pulmonary hypertension, primary, 4
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNK3 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPH4" RELATED [MONDO:Lexical, OMIM:615344]
synonym: "primary pulmonary hypertension caused by mutation in KCNK3" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 4" EXACT [MONDO:Lexical, OMIM:615344]
synonym: "pulmonary hypertension, primary, 4; PPH4" RELATED [OMIM:615344]
synonym: "pulmonary hypertension, primary, type 4" EXACT [MONDORULE:1, OMIM:615344]
xref: OMIM:615344 {source="MONDO:equivalentTo"}
xref: UMLS:C3809198 {source="OMIM:615344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008347 {source="ORDO:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: exactMatch http://identifiers.org/omim/615344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809198

[Term]
id: MONDO:0014137
name: precocious puberty, central, 2
def: "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "central precocious puberty caused by mutation in MKRN3" EXACT [MONDO:design_pattern]
synonym: "CPPB2" RELATED [MONDO:Lexical, OMIM:615346]
synonym: "MKRN3 central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precocious puberty, central, 2" EXACT [MONDO:Lexical, OMIM:615346]
synonym: "precocious puberty, central, 2; CPPB2" RELATED [OMIM:615346]
synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346]
xref: OMIM:615346 {source="MONDO:equivalentTo"}
xref: UMLS:C3809199 {source="OMIM:615346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="MONDO:Redundant", source="MONDOLEX:0014137", source="ORDO:759/btnt"} ! central precocious puberty
property_value: exactMatch http://identifiers.org/omim/615346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809199

[Term]
id: MONDO:0014138
name: nemaline myopathy 8
def: "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129871]
synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM8" EXACT [DOID:0110930, MONDO:Lexical, OMIM:615348]
synonym: "nemaline myopathy 8" EXACT [MONDO:Lexical, OMIM:615348]
synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930]
synonym: "nemaline myopathy 8; NEM8" RELATED [OMIM:615348]
synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1, OMIM:615348]
xref: DOID:0110930 {source="MONDO:equivalentTo"}
xref: NCIT:C129871 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"}
xref: UMLS:C3809209 {source="NCIT:C129871", source="NCBI:mim2gene_medline", source="OMIM:615348", source="MONDO:equivalentTo"}
is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy
property_value: exactMatch DOID:0110930
property_value: exactMatch http://identifiers.org/omim/615348
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809209
property_value: exactMatch NCIT:C129871

[Term]
id: MONDO:0014139
name: Ehlers-Danlos syndrome, progeroid type, 2
def: "Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B3GALT6 Ehlers-Danlos syndrome progeroid type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EDSP2" RELATED [MONDO:Lexical, OMIM:615349]
synonym: "EDSSPD2" RELATED [OMIM:615349]
synonym: "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" EXACT [MONDO:design_pattern]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical, OMIM:615349]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [OMIM:615349]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2; EDSP2" RELATED [OMIM:615349]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2" RELATED [OMIM:615349]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2; EDSSPD2" RELATED [OMIM:615349]
xref: OMIM:615349 {source="MONDO:equivalentTo"}
xref: UMLS:C3809210 {source="OMIM:615349", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007526 {source="MONDO:Redundant", source="MONDOLEX:0014139", source="ORDO:75496/btnt"} ! Ehlers-Danlos syndrome progeroid type
property_value: exactMatch http://identifiers.org/omim/615349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809210

[Term]
id: MONDO:0014140
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
synonym: "MDDGA14" RELATED [MONDO:Lexical, OMIM:615350]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical, OMIM:615350]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; MDDGA14" RELATED [OMIM:615350]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [OMIM:615350]
xref: OMIM:615350 {source="MONDO:equivalentTo"}
xref: UMLS:C3809216 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615350"}
is_a: MONDO:0000171 {source="OMIM:615350"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
property_value: exactMatch http://identifiers.org/omim/615350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809216

[Term]
id: MONDO:0014141
name: muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B14
synonym: "MDDGB14" RELATED [MONDO:Lexical, OMIM:615351]
synonym: "muscular dystrophy, congenital, GMPPB-related" RELATED [OMIM:615351]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" RELATED [MONDO:Lexical, OMIM:615351]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; MDDGB14" RELATED [OMIM:615351]
xref: OMIM:615351 {source="MONDO:equivalentTo"}
xref: UMLS:C3809221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615351"}
is_a: MONDO:0000172 {source="DC-OMIM:615351", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B
property_value: exactMatch http://identifiers.org/omim/615351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809221

[Term]
id: MONDO:0014142
name: autosomal recessive limb-girdle muscular dystrophy type 2T
def: "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." [Orphanet:363623]
subset: ordo_disease {source="Orphanet:363623"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" EXACT [MONDO:design_pattern]
synonym: "GMPPB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2T" EXACT [DOID:0110294, Orphanet:363623]
synonym: "limb-girdle muscular dystrophy type 2T" RELATED [GARD:0012544]
synonym: "MDDGC14" EXACT [DOID:0110294, MONDO:Lexical, OMIM:615352]
synonym: "muscular dystrophy limb-girdle type 2T" EXACT [DOID:0110294]
synonym: "muscular dystrophy, limb-girdle, type 2T" RELATED [OMIM:615352]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [DOID:0110294]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELATED [MONDO:Lexical, OMIM:615352]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; MDDGC14" RELATED [OMIM:615352]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [DOID:0110294]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [OMIM:615352]
xref: DOID:0110294 {source="MONDO:equivalentTo"}
xref: GARD:0012544 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110294"}
xref: ICD10:G71.2 {source="ORDO:363623/attributed", source="ORDO:363623/ntbt", source="Orphanet:363623"}
xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="ORDO:363623/e"}
xref: Orphanet:363623 {source="MONDO:equivalentTo", source="DOID:0110294", source="OMIM:615352"}
xref: UMLS:C3714932 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615352"}
is_a: MONDO:0000173 {source="DC-OMIM:615352", source="OMIM:615352"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110294", source="MONDO:Redundant", source="MONDOLEX:0014142", source="OMIM:615352", source="Orphanet:363623"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0017745 {source="Orphanet:363623"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:363623"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch DOID:0110294
property_value: exactMatch http://identifiers.org/omim/615352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714932
property_value: exactMatch Orphanet:363623

[Term]
id: MONDO:0014143
name: Noonan syndrome 8
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 8" EXACT [MONDO:Lexical, OMIM:615355]
synonym: "Noonan syndrome 8; NS8" RELATED [OMIM:615355]
synonym: "Noonan syndrome caused by mutation in RIT1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 8" EXACT [DOID:0060586, MONDORULE:1, OMIM:615355]
synonym: "NS8" EXACT [DOID:0060586, MONDO:Lexical, OMIM:615355]
synonym: "RIT1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060586 {source="MONDO:equivalentTo"}
xref: OMIM:615355 {source="DOID:0060586", source="MONDO:equivalentTo"}
xref: UMLS:C3809233 {source="OMIM:615355", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:615355", source="DOID:0060586", source="MONDO:Redundant", source="OMIM:615355"} ! Noonan syndrome
property_value: exactMatch DOID:0060586
property_value: exactMatch http://identifiers.org/omim/615355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809233

[Term]
id: MONDO:0014144
name: autosomal recessive limb-girdle muscular dystrophy type 2S
def: "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." [Orphanet:369840]
subset: ordo_disease {source="Orphanet:369840"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern]
synonym: "LGMD2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356, Orphanet:369840]
synonym: "limb-girdle muscular dystrophy type 2S" RELATED [GARD:0012543]
synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356]
synonym: "muscular dystrophy, limb-girdle, type 2S; LGMD2S" RELATED [OMIM:615356]
synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110287 {source="MONDO:equivalentTo"}
xref: GARD:0012543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:369840", source="DOID:0110287", source="ORDO:369840/attributed", source="ORDO:369840/ntbt"}
xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="DOID:0110287", source="ORDO:369840/e"}
xref: Orphanet:369840 {source="OMIM:615356", source="MONDO:equivalentTo", source="DOID:0110287"}
xref: UMLS:C3809236 {source="OMIM:615356", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="DOID:0110287", source="MONDO:Redundant", source="MONDOLEX:0014144", source="OMIM:615356", source="Orphanet:369840"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0018243 ! intellectual disability-hyperkinetic movement-truncal ataxia syndrome
property_value: exactMatch DOID:0110287
property_value: exactMatch http://identifiers.org/omim/615356
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809236
property_value: exactMatch Orphanet:369840

[Term]
id: MONDO:0014145
name: Leber congenital amaurosis 17
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF6 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA17" EXACT [DOID:0110217, MONDO:Lexical, OMIM:615360]
synonym: "Leber congenital amaurosis 17" EXACT [MONDO:Lexical, OMIM:615360]
synonym: "Leber congenital amaurosis 17; LCA17" RELATED [OMIM:615360]
synonym: "Leber congenital amaurosis caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 17" EXACT [DOID:0110217, MONDORULE:2, OMIM:615360]
xref: DOID:0110217 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110217", source="MONDO:relatedTo"}
xref: OMIM:615360 {source="DOID:0110217", source="MONDO:equivalentTo"}
xref: UMLS:C3715164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615360"}
is_a: MONDO:0018998 {source="DC-OMIM:615360", source="DOID:0110217", source="MONDO:Redundant", source="OMIM:615360"} ! Leber congenital amaurosis
property_value: exactMatch DOID:0110217
property_value: exactMatch http://identifiers.org/omim/615360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715164

[Term]
id: MONDO:0014146
name: autosomal dominant hypocalcemia 2
def: "An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0090108]
synonym: "autosomal dominant hypocalcemia type 2" EXACT [DOID:0090108, MONDORULE:1]
synonym: "HYPOC2" EXACT [DOID:0090108, MONDO:Lexical, OMIM:615361]
synonym: "hypocalcemia, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:615361]
synonym: "hypocalcemia, autosomal dominant 2; HYPOC2" RELATED [OMIM:615361]
synonym: "hypocalcemia, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:615361]
xref: DOID:0090108 {source="MONDO:equivalentTo"}
xref: OMIM:615361 {source="MONDO:equivalentTo", source="DOID:0090108"}
xref: UMLS:C3809243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615361"}
is_a: MONDO:0018543 {source="DOID:0090108", source="OMIM:615361"} ! autosomal dominant hypocalcemia
property_value: exactMatch DOID:0090108
property_value: exactMatch http://identifiers.org/omim/615361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809243

[Term]
id: MONDO:0014147
name: neuronal ceroid lipofuscinosis 13
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype {source="Orphanet:352709"}
synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical, OMIM:615362]
synonym: "ceroid lipofuscinosis, neuronal, 13, Kufs type" RELATED [OMIM:615362]
synonym: "ceroid lipofuscinosis, neuronal, 13; CLN13" RELATED [OMIM:615362]
synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2, OMIM:615362]
synonym: "CLN13" EXACT [DOID:0110727, MONDO:Lexical, OMIM:615362]
synonym: "CLN13 disease" RELATED [Orphanet:352709]
synonym: "CTSF neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2]
xref: DOID:0110727 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="Orphanet:352709", source="DOID:0110727", source="ORDO:352709/attributed", source="ORDO:352709/ntbt"}
xref: OMIM:615362 {source="ORDO:352709/e", source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo"}
xref: Orphanet:352709 {source="DOID:0110727", source="MONDO:equivalentTo", source="OMIM:615362"}
xref: UMLS:C3715049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615362"}
is_a: MONDO:0019260 {source="Orphanet:352709"} ! adult neuronal ceroid lipofuscinosis
property_value: exactMatch DOID:0110727
property_value: exactMatch http://identifiers.org/omim/615362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715049
property_value: exactMatch Orphanet:352709

[Term]
id: MONDO:0014148
name: estrogen resistance syndrome
def: "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." [Orphanet:785]
subset: ordo_disease {source="Orphanet:785"}
synonym: "estrogen insensitivity" RELATED [OMIM:615363]
synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363]
synonym: "estrogen resistance; ESTRR" RELATED [OMIM:615363]
synonym: "ESTRR" RELATED [MONDO:Lexical, OMIM:615363]
xref: EFO:0009042 {source="MONDO:equivalentTo"}
xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="ORDO:785/e"}
xref: Orphanet:785 {source="MONDO:equivalentTo", source="OMIM:615363"}
xref: SCTID:724555000 {source="MONDO:equivalentTo"}
xref: UMLS:C3809250 {source="MONDO:equivalentTo", source="OMIM:615363"}
is_a: MONDO:0005151 {source="Orphanet:785"} ! endocrine system disease
is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:785"} ! anomaly of puberty or/and menstrual cycle of genetic origin
is_a: MONDO:0018411 {source="EFO:0009042", source="MONDO:Redundant", source="Orphanet:785"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851467
property_value: exactMatch http://identifiers.org/omim/615363
property_value: exactMatch http://identifiers.org/snomedct/724555000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809250
property_value: exactMatch Orphanet:785

[Term]
id: MONDO:0014149
name: fetal akinesia-cerebral and retinal hemorrhage syndrome
def: "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." [Orphanet:363409]
subset: ordo_disease {source="Orphanet:363409"}
synonym: "LCCS5" RELATED [MONDO:Lexical, OMIM:615368]
synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368]
synonym: "lethal congenital contracture syndrome 5; LCCS5" RELATED [OMIM:615368]
synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368]
synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368]
xref: ICD10:G71.2 {source="ORDO:363409/attributed", source="ORDO:363409/ntbt", source="Orphanet:363409"}
xref: OMIM:615368 {source="MONDO:equivalentTo", source="Orphanet:363409", source="ORDO:363409/e"}
xref: Orphanet:363409 {source="OMIM:615368", source="MONDO:equivalentTo"}
xref: SCTID:763346009 {source="MONDO:equivalentTo"}
xref: UMLS:C3809272 {source="OMIM:615368", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017436 {source="DC-OMIM:615368", source="OMIM:615368"} ! lethal congenital contracture syndrome
is_a: MONDO:0019952 {source="Orphanet:363409"} ! congenital myopathy
property_value: exactMatch http://identifiers.org/omim/615368
property_value: exactMatch http://identifiers.org/snomedct/763346009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809272
property_value: exactMatch Orphanet:363409

[Term]
id: MONDO:0014150
name: childhood onset epileptic encephalopathy
def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." [DOID:0060475, http://omim.org/entry/615369, PMID:23708187, PMID:24207121]
synonym: "CHCHD10-related disorders" RELATED [GARD:0013197]
synonym: "CHD2 myoclonic encephalopathy" RELATED [GARD:0013197]
synonym: "childhood-onset epileptic encephalopathy" RELATED [GARD:0013197]
synonym: "EEOC" EXACT [DOID:0060475, MONDO:Lexical, OMIM:615369]
synonym: "epileptic encephalopathy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615369]
synonym: "epileptic encephalopathy, childhood-onset; EEOC" RELATED [OMIM:615369]
xref: DOID:0060475 {source="MONDO:equivalentTo"}
xref: GARD:0013197 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:615369 {source="DOID:0060475", source="MONDO:equivalentTo"}
xref: UMLS:C3809278 {source="OMIM:615369", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="DOID:0060475"} ! epilepsy, idiopathic generalized
is_a: MONDO:0016025 {source="ORDO:1942/btnt"} ! myoclonic-astastic epilepsy
is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome
property_value: exactMatch DOID:0060475
property_value: exactMatch http://identifiers.org/omim/615369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809278

[Term]
id: MONDO:0014151
name: pulmonary hypertension, neonatal, susceptibility to
subset: predisposition
synonym: "PHN" RELATED [MONDO:Lexical, OMIM:615371]
synonym: "pulmonary hypertension, neonatal, susceptibility to" EXACT [MONDO:Lexical, OMIM:615371]
synonym: "pulmonary hypertension, neonatal, susceptibility to; PHN" RELATED [OMIM:615371]
synonym: "susceptibility to neonatal pulmonary hypertension" RELATED [OMIM:615371]
xref: OMIM:615371 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:615371"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005149 ! pulmonary hypertension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714958
property_value: exactMatch http://identifiers.org/omim/615371

[Term]
id: MONDO:0014152
name: left ventricular noncompaction 8
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." [MONDO:patterns/disease_series_by_gene]
comment: This appears in the series 115200 because of an included entity. {source="OMIM:615373"}
synonym: "cardiomyopathy, dilated, 1Ll" RELATED [OMIM:615373]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 8" EXACT [MONDO:Lexical, OMIM:615373]
synonym: "left ventricular noncompaction 8; LVNC8" RELATED [OMIM:615373]
synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1, OMIM:615373]
synonym: "LVNC8" RELATED [MONDO:Lexical, OMIM:615373]
synonym: "PRDM16 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615373 {source="MONDO:equivalentTo"}
xref: UMLS:C3809288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615373"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:615373", source="MONDOLEX:0014152", source="OMIM:615373"} ! left ventricular noncompaction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809289
property_value: exactMatch http://identifiers.org/omim/615373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809288

[Term]
id: MONDO:0014153
name: cone-rod dystrophy 18
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 18" EXACT [MONDO:Lexical, OMIM:615374]
synonym: "cone-rod dystrophy 18; CORD18" RELATED [OMIM:615374]
synonym: "cone-rod dystrophy caused by mutation in RAB28" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 18" EXACT [DOID:0111024, MONDORULE:2, OMIM:615374]
synonym: "CORD18" EXACT [DOID:0111024, MONDO:Lexical, OMIM:615374]
synonym: "RAB28 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111024 {source="MONDO:equivalentTo"}
xref: OMIM:615374 {source="MONDO:equivalentTo", source="DOID:0111024"}
xref: UMLS:C3809299 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615374"}
is_a: MONDO:0015993 {source="DC-OMIM:615374", source="DOID:0111024", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111024
property_value: exactMatch http://identifiers.org/omim/615374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809299

[Term]
id: MONDO:0014154
name: Charcot-Marie-Tooth disease recessive intermediate c
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." [Orphanet:369867]
subset: ordo_disease {source="Orphanet:369867"}
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198]
synonym: "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [DOID:0110198, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical, OMIM:615376]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate C; CMTRIC" RELATED [OMIM:615376]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1, OMIM:615376]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [OMIM:615376]
synonym: "CMTRIC" EXACT [DOID:0110198, MONDO:Lexical, OMIM:615376]
synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867]
synonym: "RI-CMTC" EXACT [DOID:0110198]
xref: DOID:0110198 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:369867", source="ORDO:369867/attributed", source="ORDO:369867/ntbt", source="DOID:0110198"}
xref: OMIM:615376 {source="Orphanet:369867", source="ORDO:369867/e", source="MONDO:equivalentTo", source="DOID:0110198"}
xref: Orphanet:369867 {source="MONDO:equivalentTo", source="DOID:0110198", source="OMIM:615376"}
xref: UMLS:C3809309 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615376"}
is_a: MONDO:0017058 {source="MONDOLEX:0014154", source="Orphanet:369867"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110198
property_value: exactMatch http://identifiers.org/omim/615376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809309
property_value: exactMatch Orphanet:369867

[Term]
id: MONDO:0014155
name: atrial fibrillation, familial, 13
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB13" RELATED [MONDO:Lexical, OMIM:615377]
synonym: "atrial fibrillation, familial, 13" EXACT [MONDO:Lexical, OMIM:615377]
synonym: "atrial fibrillation, familial, 13; ATFB13" RELATED [OMIM:615377]
synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2, OMIM:615377]
synonym: "familial atrial fibrillation caused by mutation in SCN1B" EXACT [MONDO:design_pattern]
synonym: "SCN1B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615377 {source="MONDO:equivalentTo"}
xref: UMLS:C3809311 {source="OMIM:615377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:615377", source="MONDO:Redundant", source="MONDOLEX:0014155", source="OMIM:615377"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/615377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809311

[Term]
id: MONDO:0014156
name: atrial fibrillation, familial, 14
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB14" RELATED [MONDO:Lexical, OMIM:615378]
synonym: "atrial fibrillation, familial, 14" EXACT [MONDO:Lexical, OMIM:615378]
synonym: "atrial fibrillation, familial, 14; ATFB14" RELATED [OMIM:615378]
synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2, OMIM:615378]
synonym: "familial atrial fibrillation caused by mutation in SCN2B" EXACT [MONDO:design_pattern]
synonym: "SCN2B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615378 {source="MONDO:equivalentTo"}
xref: UMLS:C3809312 {source="OMIM:615378", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:615378", source="MONDO:Redundant", source="MONDOLEX:0014156", source="OMIM:615378"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/615378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809312

[Term]
id: MONDO:0014157
name: mandibular hypoplasia-deafness-progeroid syndrome
subset: ordo_disease {source="Orphanet:363649"}
synonym: "mandibular hypoplasia, deafness, progeroid features" RELATED [GARD:0010989]
synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical, OMIM:615381]
synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; MDPL" RELATED [OMIM:615381]
synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet:363649]
synonym: "MDP syndrome" EXACT [Orphanet:363649]
synonym: "MDPL" RELATED [MONDO:Lexical, OMIM:615381]
xref: GARD:0010989 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="Orphanet:363649", source="ORDO:363649/attributed", source="ORDO:363649/ntbt"}
xref: OMIM:615381 {source="MONDO:equivalentTo", source="Orphanet:363649", source="ORDO:363649/e"}
xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"}
xref: UMLS:C3715192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615381"}
is_a: MONDO:0015333 {source="Orphanet:363649"} ! progeroid syndrome
is_a: MONDO:0019589 {source="Orphanet:363649"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/615381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715192
property_value: exactMatch Orphanet:363649

[Term]
id: MONDO:0014158
name: nephronophthisis 16
def: "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:93591"}
synonym: "ANKS6 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive infantile nephronophthisis" EXACT [Orphanet:93591]
synonym: "autosomal recessive infantile NPHP" EXACT [Orphanet:93591]
synonym: "infantile nephronophthisis" RELATED [Orphanet:93591]
synonym: "nephronophthisis (disease) caused by mutation in ANKS6" EXACT []
synonym: "nephronophthisis 16" EXACT [MONDO:Lexical, OMIM:615382]
synonym: "nephronophthisis 16; NPHP16" RELATED [OMIM:615382]
synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382]
synonym: "NPHP16" EXACT [DOID:0111124, MONDO:Lexical, OMIM:615382]
xref: DOID:0111124 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.5 {source="ORDO:93591/attributed", source="ORDO:93591/ntbt", source="Orphanet:93591"}
xref: OMIM:615382 {source="MONDO:equivalentTo", source="DOID:0111124", source="Orphanet:93591"}
xref: Orphanet:93591 {source="MONDO:equivalentTo"}
xref: SCTID:444558002 {source="MONDO:equivalentTo"}
xref: UMLS:C3809320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615382"}
is_a: MONDO:0019005 {source="DOID:0111124", source="MONDO:Redundant", source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111124
property_value: exactMatch http://identifiers.org/omim/615382
property_value: exactMatch http://identifiers.org/snomedct/444558002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809320
property_value: exactMatch Orphanet:93591

[Term]
id: MONDO:0014159
name: autosomal recessive spinocerebellar ataxia 14
def: "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." [Orphanet:352403]
subset: ordo_disease {source="Orphanet:352403"}
synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403]
synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [Orphanet:352403]
synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [DOID:0080058, MONDORULE:2, Orphanet:352403]
synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [OMIM:615386]
synonym: "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" EXACT [Orphanet:352403]
synonym: "SCAR14" EXACT [MONDO:Lexical, OMIM:615386, Orphanet:352403]
synonym: "SPARCA" EXACT [Orphanet:352403]
synonym: "SPARCA1" EXACT [Orphanet:352403]
synonym: "spectrin-associated autosomal recessive cerebellar ataxia" RELATED [Orphanet:352403]
synonym: "spectrin-associated autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:352403]
synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:615386]
synonym: "spinocerebellar ataxia, autosomal recessive 14; SCAR14" RELATED [OMIM:615386]
synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386]
synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080058 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:352403/attributed", source="ORDO:352403/ntbt", source="Orphanet:352403"}
xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="ORDO:352403/e"}
xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"}
xref: SCTID:763351003 {source="MONDO:equivalentTo"}
xref: UMLS:C3809327 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615386"}
is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch DOID:0080058
property_value: exactMatch http://identifiers.org/omim/615386
property_value: exactMatch http://identifiers.org/snomedct/763351003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809327
property_value: exactMatch Orphanet:352403

[Term]
id: MONDO:0014160
name: TCR-alpha-beta-positive T-cell deficiency
subset: ordo_disease {source="Orphanet:397959"}
synonym: "immunodeficiency 7" RELATED [OMIM:615387]
synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387]
synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959]
synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387]
xref: ICD10:D84.8 {source="ORDO:397959/attributed", source="ORDO:397959/ntbt", source="Orphanet:397959"}
xref: OMIM:615387 {source="MONDO:equivalentTo", source="ORDO:397959/e", source="Orphanet:397959"}
xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"}
xref: UMLS:C3809332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615387"}
is_a: MONDO:0018814 {source="Orphanet:397959"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615387
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809332
property_value: exactMatch Orphanet:397959

[Term]
id: MONDO:0014161
name: VUR7
synonym: "vesicoureteral reflux 7" RELATED [MONDO:Lexical, OMIM:615390]
synonym: "vesicoureteral reflux 7; VUR7" RELATED [OMIM:615390]
synonym: "VUR7" EXACT [MONDO:Lexical, OMIM:615390]
xref: OMIM:615390 {source="MONDO:equivalentTo"}
xref: UMLS:C3809337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615390"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/615390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809337

[Term]
id: MONDO:0014162
name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
def: "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." [Orphanet:352563]
subset: ordo_disease {source="Orphanet:352563"}
synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563]
synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395]
synonym: "combined oxidative phosphorylation deficiency 16; COXPD16" RELATED [OMIM:615395]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL44" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2, OMIM:615395]
synonym: "COXPD16" EXACT [MONDO:Lexical, OMIM:615395, Orphanet:352563]
synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0012892 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:I42.2 {source="Orphanet:352563", source="ORDO:352563/attributed", source="ORDO:352563/ntbt"}
xref: OMIM:615395 {source="ORDO:352563/e", source="Orphanet:352563", source="MONDO:equivalentTo"}
xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"}
xref: UMLS:C3809339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615395"}
is_a: MONDO:0000732 {source="DC-OMIM:615395", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016327 {source="Orphanet:352563"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018157 {source="Orphanet:352563"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/615395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809339
property_value: exactMatch Orphanet:352563

[Term]
id: MONDO:0014163
name: left ventricular noncompaction 10
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1Mm" RELATED [OMIM:615396]
synonym: "left ventricular noncompaction 10" EXACT [MONDO:Lexical, OMIM:615396]
synonym: "left ventricular noncompaction 10; LVNC10" RELATED [OMIM:615396]
synonym: "left ventricular noncompaction caused by mutation in MYBPC3" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2, OMIM:615396]
synonym: "LVNC10" RELATED [MONDO:Lexical, OMIM:615396]
synonym: "MYBPC3 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615396 {source="MONDO:equivalentTo"}
xref: UMLS:C3715165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615396"}
is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:615396", source="MONDO:Redundant", source="MONDOLEX:0014163", source="OMIM:615396"} ! left ventricular noncompaction (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809346
property_value: exactMatch http://identifiers.org/omim/615396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715165

[Term]
id: MONDO:0014164
name: Meckel syndrome, type 11
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 11" EXACT [MONDO:Lexical, OMIM:615397]
synonym: "Meckel syndrome, type 11; MKS11" RELATED [OMIM:615397]
synonym: "MKS11" RELATED [MONDO:Lexical, OMIM:615397]
synonym: "TMEM231 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615397 {source="MONDO:equivalentTo"}
xref: UMLS:C3809352 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615397"}
is_a: MONDO:0018921 {source="DC-OMIM:615397", source="MONDO:Redundant", source="OMIM:615397"} ! Meckel syndrome
property_value: exactMatch http://identifiers.org/omim/615397
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809352

[Term]
id: MONDO:0014165
name: multiple congenital anomalies-hypotonia-seizures syndrome 3
def: "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." [Orphanet:369837]
subset: ordo_malformation_syndrome {source="Orphanet:369837"}
synonym: "congenital disorder of glycosylation due to PIGT deficiency" EXACT [Orphanet:369837]
synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [OMIM:615398]
synonym: "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" RELATED [Orphanet:369837]
synonym: "MCAHS type 3" EXACT [Orphanet:369837]
synonym: "MCAHS3" RELATED [MONDO:Lexical, OMIM:615398]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [MONDO:Lexical, OMIM:615398]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3; MCAHS3" RELATED [OMIM:615398]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [DOID:0080140, MONDORULE:1, OMIM:615398]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" EXACT [MONDO:design_pattern]
synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PIGT-CDG" EXACT [Orphanet:369837]
xref: DOID:0080140 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:369837/attributed", source="ORDO:369837/ntbt", source="Orphanet:369837"}
xref: OMIM:615398 {source="DOID:0080140", source="MONDO:equivalentTo", source="ORDO:369837/e", source="Orphanet:369837"}
xref: Orphanet:369837 {source="MONDO:equivalentTo", source="OMIM:615398"}
xref: UMLS:C3809356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615398"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:369837"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:369837"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018292 {source="Orphanet:369837"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019699 {source="Orphanet:369837"} ! slender bone dysplasia
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080140
property_value: exactMatch http://identifiers.org/omim/615398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809356
property_value: exactMatch Orphanet:369837

[Term]
id: MONDO:0014166
name: paroxysmal nocturnal hemoglobinuria 2
def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399]
synonym: "paroxysmal nocturnal hemoglobinuria 2; PNH2" RELATED [OMIM:615399]
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern]
synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399]
synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PNH2" RELATED [MONDO:Lexical, OMIM:615399]
xref: OMIM:615399 {source="MONDO:equivalentTo"}
xref: UMLS:C3809369 {source="OMIM:615399", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018641 {source="DC-OMIM:615399", source="MONDO:Redundant", source="MONDOLEX:0014166", source="OMIM:615399"} ! paroxysmal nocturnal hemoglobinuria
property_value: exactMatch http://identifiers.org/omim/615399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809369

[Term]
id: MONDO:0014167
name: epilepsy, familial adult myoclonic, 5
def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CNTN2 epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [OMIM:615400]
synonym: "epilepsy, familial adult myoclonic caused by mutation in CNTN2" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial adult myoclonic, 5" EXACT [MONDO:Lexical, OMIM:615400]
synonym: "epilepsy, familial ADULT myoclonic, 5; FAME5" RELATED [OMIM:615400]
synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1, OMIM:615400]
synonym: "FAME5" RELATED [MONDO:Lexical, OMIM:615400]
xref: OMIM:615400 {source="MONDO:equivalentTo"}
xref: UMLS:C3809374 {source="OMIM:615400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="DC-OMIM:615400", source="MONDO:Redundant", source="OMIM:615400"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/615400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809374

[Term]
id: MONDO:0014168
name: severe combined immunodeficiency due to CORO1A deficiency
subset: ordo_disease {source="Orphanet:228003"}
synonym: "coronin-1A deficiency" EXACT [MONDO:0000579]
synonym: "IMD8" RELATED [MONDO:Lexical, OMIM:615401]
synonym: "immunodeficiency 8" RELATED [MONDO:Lexical, OMIM:615401]
synonym: "immunodeficiency 8; IMD8" RELATED [OMIM:615401]
synonym: "immunodeficiency type 8" EXACT [MONDORULE:1, OMIM:615401]
synonym: "SCID due to CORO1A deficiency" EXACT [Orphanet:228003]
synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003]
synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003]
xref: DOID:0060019 {source="MONDO:equivalentTo"}
xref: ICD10:D81.2 {source="Orphanet:228003", source="ORDO:228003/attributed", source="ORDO:228003/ntbt"}
xref: OMIM:615401 {source="MONDO:equivalentTo", source="Orphanet:228003", source="ORDO:228003/e"}
xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"}
xref: UMLS:C3809383 {source="OMIM:615401", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="Orphanet:228003"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch DOID:0060019
property_value: exactMatch http://identifiers.org/omim/615401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809383
property_value: exactMatch Orphanet:228003

[Term]
id: MONDO:0014169
name: dyschromatosis universalis hereditaria 3
def: "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCB6 dyschromatosis universalis hereditaria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DUH3" RELATED [MONDO:Lexical, OMIM:615402]
synonym: "dyschromatosis universalis hereditaria 3" EXACT [MONDO:Lexical, OMIM:615402]
synonym: "dyschromatosis universalis hereditaria 3; DUH3" RELATED [OMIM:615402]
synonym: "dyschromatosis universalis hereditaria caused by mutation in ABCB6" EXACT [MONDO:design_pattern]
synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMIM:615402]
xref: OMIM:615402 {source="MONDO:equivalentTo"}
xref: UMLS:C3809394 {source="OMIM:615402", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:615402", source="ORDO:241/btnt"} ! dyschromatosis universalis hereditaria
property_value: exactMatch http://identifiers.org/omim/615402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809394

[Term]
id: MONDO:0014170
name: complex cortical dysplasia with other brain malformations 3
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM3" EXACT [DOID:0090134, MONDO:Lexical, OMIM:615411]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 3" EXACT [DOID:0090134, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 3" RELATED [MONDO:Lexical, OMIM:615411]
synonym: "cortical dysplasia, complex, with other brain malformations 3; CDCBM3" RELATED [OMIM:615411]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 3" EXACT [MONDORULE:1, OMIM:615411]
synonym: "KIF2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090134 {source="MONDO:equivalentTo"}
xref: OMIM:615411 {source="MONDO:equivalentTo", source="DOID:0090134"}
xref: UMLS:C3809414 {source="OMIM:615411", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="DOID:0090134", source="MONDO:Redundant", source="OMIM:615411"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0090134
property_value: exactMatch http://identifiers.org/omim/615411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809414

[Term]
id: MONDO:0014171
name: complex cortical dysplasia with other brain malformations 4
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM4" EXACT [DOID:0090138, MONDO:Lexical, OMIM:615412]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 4" EXACT [DOID:0090138, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 4" RELATED [MONDO:Lexical, OMIM:615412]
synonym: "cortical dysplasia, complex, with other brain malformations 4; CDCBM4" RELATED [OMIM:615412]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 4" EXACT [MONDORULE:1, OMIM:615412]
synonym: "TUBG1 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090138 {source="MONDO:equivalentTo"}
xref: OMIM:615412 {source="MONDO:equivalentTo", source="DOID:0090138"}
xref: UMLS:C3809420 {source="OMIM:615412", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="DOID:0090138", source="MONDO:Redundant", source="OMIM:615412"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0090138
property_value: exactMatch http://identifiers.org/omim/615412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809420

[Term]
id: MONDO:0014172
name: spermatogenic failure 12
def: "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in NANOS1" EXACT [MONDO:design_pattern]
synonym: "NANOS1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 12" EXACT [MONDO:Lexical, OMIM:615413]
synonym: "spermatogenic failure 12; SPGF12" RELATED [OMIM:615413]
synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2, OMIM:615413]
synonym: "SPGF12" RELATED [MONDO:Lexical, OMIM:615413]
xref: DOID:0070171 {source="MONDO:equivalentTo"}
xref: OMIM:615413 {source="MONDO:equivalentTo"}
xref: UMLS:C3809427 {source="OMIM:615413", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:615413", source="MONDO:Redundant", source="OMIM:615413"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
is_a: MONDO:0018394 {source="ORDO:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation
property_value: exactMatch DOID:0070171
property_value: exactMatch http://identifiers.org/omim/615413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809427

[Term]
id: MONDO:0014173
name: microcephaly 11, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in PHC1" EXACT [MONDO:design_pattern]
synonym: "MCPH11" RELATED [MONDO:Lexical, OMIM:615414]
synonym: "microcephaly 11, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615414]
synonym: "microcephaly 11, primary, autosomal recessive; MCPH11" RELATED [OMIM:615414]
synonym: "PHC1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070287 {source="MONDO:equivalentTo"}
xref: OMIM:615414 {source="MONDO:equivalentTo"}
xref: UMLS:C3809431 {source="NCBI:mim2gene_medline", source="OMIM:615414", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:615414", source="MONDO:Redundant", source="OMIM:615414"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070287
property_value: exactMatch http://identifiers.org/omim/615414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809431

[Term]
id: MONDO:0014174
name: renal-hepatic-pancreatic dysplasia 2
def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NEK8 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal-hepatic-pancreatic dysplasia 2" EXACT [MONDO:Lexical, OMIM:615415]
synonym: "renal-hepatic-pancreatic dysplasia 2; RHPD2" RELATED [OMIM:615415]
synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8" EXACT [MONDO:design_pattern]
synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1, OMIM:615415]
synonym: "RHPD2" RELATED [MONDO:Lexical, OMIM:615415]
xref: OMIM:615415 {source="MONDO:equivalentTo"}
xref: UMLS:C3809434 {source="OMIM:615415", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017417 {source="DC-OMIM:615415", source="MONDO:Redundant", source="OMIM:615415"} ! renal-hepatic-pancreatic dysplasia
property_value: exactMatch http://identifiers.org/omim/615415
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809434

[Term]
id: MONDO:0014175
name: mitochondrial DNA depletion syndrome 12
def: "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." [NCIT:C129977]
synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical, OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); MTDPS12" RELATED [OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" RELATED [OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; MTDPS12B" RELATED [OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome type 12" EXACT [DOID:0080130, MONDORULE:2]
synonym: "MTDPS12" RELATED [MONDO:Lexical, OMIM:615418]
synonym: "MTDPS12B" RELATED [OMIM:615418]
xref: DOID:0080130 {source="MONDO:equivalentTo"}
xref: DOID:0080335 {source="MONDO:equivalentTo"}
xref: NCIT:C129977 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:615418 {source="DOID:0080130", source="MONDO:equivalentTo", source="DOID:0080335"}
xref: UMLS:C4321247 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="DC-OMIM:615418", source="MONDO:Redundant", source="OMIM:615418", source="indirect"} ! mitochondrial DNA depletion syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809443
property_value: exactMatch DOID:0080130
property_value: exactMatch DOID:0080335
property_value: exactMatch http://identifiers.org/omim/615418
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4321247
property_value: exactMatch NCIT:C129977

[Term]
id: MONDO:0014176
name: hypotonia, infantile, with psychomotor retardation and characteristic facies
subset: prototype_pattern
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIM:615419]
synonym: "IHPRF" RELATED [MONDO:Lexical, OMIM:615419]
xref: DC:0000718 {source="MONDO:equivalentTo"}
xref: OMIMPS:615419 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0018297 {source="ORDO:371364/btnt"} ! hypotonia-speech impairment-severe cognitive delay syndrome

[Term]
id: MONDO:0014177
name: myopia 22, autosomal dominant
synonym: "myopia 22, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615420]
synonym: "myopia 22, autosomal dominant; MYP22" RELATED [OMIM:615420]
synonym: "MYP22" RELATED [MONDO:Lexical, OMIM:615420]
xref: OMIM:615420 {source="MONDO:equivalentTo"}
xref: UMLS:C3809464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615420"}
is_a: MONDO:0001384 {source="DC-OMIM:615420", source="OMIM:615420"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809464

[Term]
id: MONDO:0014178
name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBMPFD2" RELATED [MONDO:Lexical, OMIM:615422]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" EXACT [MONDO:Lexical, OMIM:615422]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; IBMPFD2" RELATED [OMIM:615422]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2" EXACT [MONDORULE:1, OMIM:615422]
synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1" EXACT [MONDO:design_pattern]
synonym: "multisystem Proteinopathy 2" RELATED [OMIM:615422]
xref: OMIM:615422 {source="MONDO:equivalentTo"}
xref: UMLS:C3809468 {source="OMIM:615422", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000507 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0014178", source="OMIM:615422", source="Orphanet:52430"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
property_value: exactMatch http://identifiers.org/omim/615422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809468

[Term]
id: MONDO:0014179
name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBMPFD3" RELATED [MONDO:Lexical, OMIM:615424]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" EXACT [MONDO:Lexical, OMIM:615424]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; IBMPFD3" RELATED [OMIM:615424]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" EXACT [MONDORULE:1, OMIM:615424]
synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern]
synonym: "multisystem Proteinopathy 3" RELATED [OMIM:615424]
xref: OMIM:615424 {source="MONDO:equivalentTo"}
xref: UMLS:C3809469 {source="OMIM:615424", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000507 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0014179", source="OMIM:615424", source="Orphanet:52430"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
property_value: exactMatch http://identifiers.org/omim/615424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809469

[Term]
id: MONDO:0014180
name: epidermolysis bullosa simplex due to BP230 deficiency
subset: ordo_disease {source="Orphanet:412181"}
synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181]
synonym: "EBS-AR BP230" EXACT [Orphanet:412181]
synonym: "EBSB2" RELATED [MONDO:Lexical, OMIM:615425]
synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425]
synonym: "epidermolysis bullosa simplex, autosomal recessive 2; EBSB2" RELATED [OMIM:615425]
synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:412181/attributed", source="ORDO:412181/ntbt", source="Orphanet:412181"}
xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="ORDO:412181/e"}
xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"}
xref: UMLS:C3809470 {source="NCBI:mim2gene_medline", source="OMIM:615425", source="MONDO:equivalentTo"}
is_a: MONDO:0015551 {source="Orphanet:412181"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/omim/615425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809470
property_value: exactMatch Orphanet:412181

[Term]
id: MONDO:0014181
name: amyotrophic lateral sclerosis type 20
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426]
synonym: "amyotrophic lateral sclerosis 20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426]
synonym: "amyotrophic lateral sclerosis 20; ALS20" RELATED [OMIM:615426]
synonym: "amyotrophic lateral sclerosis caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 20" EXACT [MONDORULE:2, OMIM:615426]
synonym: "HNRNPA1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060211 {source="MONDO:equivalentTo"}
xref: OMIM:615426 {source="DOID:0060211", source="MONDO:equivalentTo"}
xref: UMLS:C3715156 {source="OMIM:615426", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060211
property_value: exactMatch http://identifiers.org/omim/615426
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715156

[Term]
id: MONDO:0014182
name: autosomal recessive nonsyndromic deafness 88
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 88" EXACT [DOID:0110533]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 88" EXACT [DOID:0110533, MONDORULE:2]
synonym: "deafness, autosomal recessive 88" RELATED [MONDO:Lexical, OMIM:615429]
synonym: "deafness, autosomal recessive 88; DFNB88" RELATED [OMIM:615429]
synonym: "deafness, autosomal recessive type 88" EXACT [MONDORULE:2, OMIM:615429]
synonym: "DFNB88" EXACT [DOID:0110533, MONDO:Lexical, OMIM:615429]
synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110533 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110533"}
xref: OMIM:615429 {source="DOID:0110533", source="MONDO:equivalentTo"}
xref: UMLS:C2829267 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615429"}
is_a: MONDO:0019588 {source="DC-OMIM:615429", source="DOID:0110533", source="MONDO:Redundant", source="OMIM:615429"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110533
property_value: exactMatch http://identifiers.org/omim/615429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2829267

[Term]
id: MONDO:0014183
name: myopia 23, autosomal recessive
synonym: "myopia 23, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615431]
synonym: "myopia 23, autosomal recessive; MYP23" RELATED [OMIM:615431]
synonym: "MYP23" RELATED [MONDO:Lexical, OMIM:615431]
xref: OMIM:615431 {source="MONDO:equivalentTo"}
xref: UMLS:C3809482 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615431"}
is_a: MONDO:0001384 {source="DC-OMIM:615431", source="MONDO:Redundant", source="OMIM:615431", source="ORDO:98619/btnt", source="indirect"} ! myopia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0020207"} ! rare
property_value: exactMatch http://identifiers.org/omim/615431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809482

[Term]
id: MONDO:0014184
name: specific language impairment 5
def: "A communication disorder that involves the processing of linguistic information." []
synonym: "SLI5" EXACT [MONDO:Lexical, OMIM:615432]
synonym: "specific language impairment 5" RELATED [OMIM:615432]
synonym: "specific language impairment 5; SLI5" RELATED [OMIM:615432]
synonym: "specific language impairment type 5" EXACT [MONDORULE:1, OMIM:615432]
xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"}
xref: UMLS:C3809483 {source="OMIM:615432", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000724 {source="DC-OMIM:615432", source="OMIM:615432"} ! specific language impairment
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/615432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809483

[Term]
id: MONDO:0014185
name: chromosome 3q13.31 deletion syndrome
def: "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." [Orphanet:1621]
subset: ordo_malformation_syndrome {source="Orphanet:1621"}
synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418]
synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433]
synonym: "Del(3)(q13)" EXACT [Orphanet:1621]
synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621]
xref: DOID:0060418 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:1621/attributed", source="ORDO:1621/ntbt", source="Orphanet:1621"}
xref: MESH:C536808 {source="ORDO:1621/e", source="MONDO:equivalentTo", source="Orphanet:1621", source="MONDO:ontobio", source="DOID:0060418"}
xref: OMIM:615433 {source="ORDO:1621/e", source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418"}
xref: Orphanet:1621 {source="OMIM:615433", source="MONDO:equivalentTo", source="DOID:0060418"}
xref: SCTID:726705007 {source="MONDO:equivalentTo"}
xref: UMLS:C3809490 {source="OMIM:615433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN036884 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:615433", source="DOID:0060418"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016902 {source="Orphanet:1621"} ! partial deletion of the long arm of chromosome 3
property_value: exactMatch DOID:0060418
property_value: exactMatch http://identifiers.org/mesh/C536808
property_value: exactMatch http://identifiers.org/omim/615433
property_value: exactMatch http://identifiers.org/snomedct/726705007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931338
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036884
property_value: exactMatch Orphanet:1621

[Term]
id: MONDO:0014186
name: retinitis pigmentosa with or without situs inversus
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARL2BP retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa caused by mutation in ARL2BP" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa with or without situs inversus" EXACT [OMIM:615434]
xref: DOID:0110419 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"}
xref: OMIM:615434 {source="DOID:0110419", source="MONDO:equivalentTo"}
xref: UMLS:C3809503 {source="OMIM:615434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:615434", source="DOID:0110419", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110419
property_value: exactMatch http://identifiers.org/omim/615434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809503

[Term]
id: MONDO:0014187
name: aortic aneurysm, familial thoracic 8
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AAT8" RELATED [MONDO:Lexical, OMIM:615436]
synonym: "aortic aneurysm, familial thoracic 8" EXACT [MONDO:Lexical, OMIM:615436]
synonym: "aortic aneurysm, familial thoracic 8; AAT8" RELATED [OMIM:615436]
synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1, OMIM:615436]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1" EXACT [MONDO:design_pattern]
synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615436 {source="MONDO:equivalentTo"}
xref: UMLS:C3809513 {source="NCBI:mim2gene_medline", source="OMIM:615436", source="MONDO:equivalentTo"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:615436", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/omim/615436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809513

[Term]
id: MONDO:0014189
name: age related macular degeneration 13
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 13" EXACT [DOID:0110025, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CFI" EXACT [MONDO:design_pattern]
synonym: "ARMD13" EXACT [DOID:0110025, MONDO:Lexical, OMIM:615439]
synonym: "CFI age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 13" RELATED [MONDO:Lexical, OMIM:615439]
synonym: "macular degeneration, age-related, 13; ARMD13" RELATED [OMIM:615439]
synonym: "macular Degeneration, age-related, type 13" EXACT [MONDORULE:2, OMIM:615439]
xref: DOID:0110025 {source="MONDO:equivalentTo"}
xref: OMIM:615439 {source="MONDO:equivalentTo", source="DOID:0110025"}
xref: UMLS:C3809523 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615439"}
is_a: MONDO:0005150 {source="DC-OMIM:615439", source="DOID:0110025", source="MONDO:Redundant", source="OMIM:615439"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110025
property_value: exactMatch http://identifiers.org/omim/615439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809523

[Term]
id: MONDO:0014190
name: combined oxidative phosphorylation defect type 17
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
subset: ordo_disease {source="Orphanet:369913"}
synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440]
synonym: "combined oxidative phosphorylation deficiency 17; COXPD17" RELATED [OMIM:615440]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2, OMIM:615440]
synonym: "COXPD17" EXACT [MONDO:Lexical, OMIM:615440, Orphanet:369913]
synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="ORDO:369913/attributed", source="ORDO:369913/ntbt", source="Orphanet:369913"}
xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="ORDO:369913/e"}
xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"}
xref: UMLS:C3809526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615440"}
is_a: MONDO:0000732 {source="DC-OMIM:615440", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016327 {source="Orphanet:369913"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018157 {source="Orphanet:369913"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/615440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809526
property_value: exactMatch Orphanet:369913

[Term]
id: MONDO:0014191
name: catecholaminergic polymorphic ventricular tachycardia 5
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 5" EXACT [DOID:0060679, MONDORULE:1]
synonym: "CPVT5" RELATED [MONDO:Lexical, OMIM:615441]
synonym: "CVPT5" EXACT [DOID:0060679]
synonym: "TRDN catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical, OMIM:615441]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CPVT5" RELATED [OMIM:615441]
xref: DOID:0060679 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060679"}
xref: OMIM:615441 {source="MONDO:equivalentTo", source="DOID:0060679"}
xref: UMLS:C3809536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615441"}
is_a: MONDO:0017990 {source="DC-OMIM:615441", source="DOID:0060679", source="MONDO:Redundant", source="OMIM:615441"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060679
property_value: exactMatch http://identifiers.org/omim/615441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809536

[Term]
id: MONDO:0014192
name: primary ciliary dyskinesia 22
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD22" EXACT [DOID:0110597, MONDO:Lexical, OMIM:615444]
synonym: "ciliary dyskinesia, primary, 22" RELATED [MONDO:Lexical, OMIM:615444]
synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELATED [OMIM:615444]
synonym: "ciliary dyskinesia, primary, 22; CILD22" RELATED [OMIM:615444]
synonym: "ciliary dyskinesia, primary, type 22" EXACT [MONDORULE:2, OMIM:615444]
synonym: "primary ciliary dyskinesia 22 with or without situs inversus" EXACT [DOID:0110597]
synonym: "primary ciliary dyskinesia caused by mutation in ZMYND10" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 22" EXACT [DOID:0110597, MONDORULE:2]
synonym: "ZMYND10 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110597 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110597"}
xref: OMIM:615444 {source="MONDO:equivalentTo", source="DOID:0110597"}
xref: UMLS:C3809543 {source="OMIM:615444", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:615444", source="DOID:0110597", source="MONDO:Redundant", source="MONDOLEX:0014192", source="OMIM:615444"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110597
property_value: exactMatch http://identifiers.org/omim/615444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809543

[Term]
id: MONDO:0014193
name: primary ciliary dyskinesia 23
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARMC4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD23" EXACT [DOID:0110609, MONDO:Lexical, OMIM:615451]
synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical, OMIM:615451]
synonym: "ciliary dyskinesia, primary, 23, with or without situs inversus" RELATED [OMIM:615451]
synonym: "ciliary dyskinesia, primary, 23; CILD23" RELATED [OMIM:615451]
synonym: "ciliary dyskinesia, primary, type 23" EXACT [MONDORULE:2, OMIM:615451]
synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [DOID:0110609]
synonym: "primary ciliary dyskinesia caused by mutation in ARMC4" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 23" EXACT [DOID:0110609, MONDORULE:2]
xref: DOID:0110609 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110609"}
xref: OMIM:615451 {source="MONDO:equivalentTo", source="DOID:0110609"}
xref: UMLS:C3809548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615451"}
is_a: MONDO:0016575 {source="DC-OMIM:615451", source="DOID:0110609", source="MONDO:Redundant", source="MONDOLEX:0014193", source="OMIM:615451"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110609
property_value: exactMatch http://identifiers.org/omim/615451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809548

[Term]
id: MONDO:0014194
name: mitochondrial complex III deficiency nuclear type 6
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CYC1 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN6" RELATED [MONDO:Lexical, OMIM:615453]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [OMIM:615453]
synonym: "mitochondrial complex III deficiency caused by mutation in CYC1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical, OMIM:615453]
synonym: "mitochondrial complex III deficiency, nuclear type 6; MC3DN6" RELATED [OMIM:615453]
xref: DOID:0080115 {source="MONDO:equivalentTo"}
xref: OMIM:615453 {source="MONDO:equivalentTo", source="DOID:0080115"}
xref: UMLS:C3809553 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615453"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080115
property_value: exactMatch http://identifiers.org/omim/615453
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809553

[Term]
id: MONDO:0014195
name: microcornea-myopic chorioretinal atrophy-telecanthus syndrome
subset: ordo_disease {source="Orphanet:369970"}
synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical, OMIM:615458]
synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus; MMCAT" RELATED [OMIM:615458]
synonym: "MMCAT" RELATED [MONDO:Lexical, OMIM:615458]
synonym: "MMCAT syndrome" EXACT [Orphanet:369970]
xref: ICD10:Q15.8 {source="ORDO:369970/attributed", source="ORDO:369970/ntbt", source="Orphanet:369970"}
xref: OMIM:615458 {source="MONDO:equivalentTo", source="ORDO:369970/e", source="Orphanet:369970"}
xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"}
xref: UMLS:C3809567 {source="NCBI:mim2gene_medline", source="OMIM:615458", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy
is_a: MONDO:0020145 {source="Orphanet:369970"} ! developmental defect of the eye
property_value: exactMatch http://identifiers.org/omim/615458
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809567
property_value: exactMatch Orphanet:369970

[Term]
id: MONDO:0014196
name: Hartsfield-Bixler-Demyer syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2117"}
synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical, OMIM:615465]
synonym: "HARTSFIELD syndrome; HRTFDS" RELATED [OMIM:615465]
synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELATED [OMIM:615465]
synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117]
synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117]
synonym: "HRTFDS" RELATED [MONDO:Lexical, OMIM:615465]
xref: ICD10:Q87.8 {source="ORDO:2117/attributed", source="ORDO:2117/ntbt", source="Orphanet:2117"}
xref: MESH:C564484 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="ORDO:2117/e"}
xref: Orphanet:2117 {source="OMIM:615465", source="MONDO:equivalentTo"}
xref: SCTID:766032007 {source="MONDO:equivalentTo"}
xref: UMLS:C1845146 {source="OMIM:615465", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2117", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2117", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2117"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2117"} ! orofacial clefting syndrome
is_a: MONDO:0017120 {source="Orphanet:2117"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C564484
property_value: exactMatch http://identifiers.org/omim/615465
property_value: exactMatch http://identifiers.org/snomedct/766032007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1845146
property_value: exactMatch Orphanet:2117

[Term]
id: MONDO:0014197
name: combined immunodeficiency due to MALT1 deficiency
def: "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." [Orphanet:397964]
subset: ordo_disease {source="Orphanet:397964"}
synonym: "IMD12" RELATED [MONDO:Lexical, OMIM:615468]
synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468]
synonym: "immunodeficiency 12; IMD12" RELATED [OMIM:615468]
synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468]
xref: ICD10:D81.8 {source="ORDO:397964/attributed", source="ORDO:397964/ntbt", source="Orphanet:397964"}
xref: OMIM:615468 {source="MONDO:equivalentTo", source="ORDO:397964/e", source="Orphanet:397964"}
xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"}
xref: UMLS:C3809583 {source="OMIM:615468", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:397964"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809583
property_value: exactMatch Orphanet:397964

[Term]
id: MONDO:0014198
name: mitochondrial DNA depletion syndrome 13
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:369897"}
synonym: "BXL4-related early-onset mitochondrial encephalopathy" RELATED [GARD:0013298]
synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [GARD:0013298]
synonym: "FBXL4 deficiency" RELATED [GARD:0013298]
synonym: "FBXL4 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" RELATED [GARD:0013298]
synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical, OMIM:615471]
synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); MTDPS13" RELATED [OMIM:615471]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [DOID:0080131, MONDORULE:2]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [Orphanet:369897]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897]
synonym: "MTDPS13" RELATED [MONDO:Lexical, OMIM:615471]
xref: DOID:0080131 {source="MONDO:equivalentTo"}
xref: GARD:0013298 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E88.8 {source="Orphanet:369897", source="ORDO:369897/attributed", source="ORDO:369897/ntbt"}
xref: OMIM:615471 {source="ORDO:369897/e", source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo"}
xref: Orphanet:369897 {source="MONDO:equivalentTo", source="OMIM:615471"}
xref: SCTID:765403009 {source="MONDO:equivalentTo"}
xref: UMLS:C3809592 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615471"}
is_a: MONDO:0016796 {source="MONDOLEX:0014198", source="Orphanet:369897"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
property_value: exactMatch DOID:0080131
property_value: exactMatch http://identifiers.org/omim/615471
property_value: exactMatch http://identifiers.org/snomedct/765403009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809592
property_value: exactMatch Orphanet:369897

[Term]
id: MONDO:0014199
name: epileptic encephalopathy, early infantile, 17
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy-17" RELATED [GARD:0013378]
synonym: "EIEE17" RELATED [MONDO:Lexical, OMIM:615473]
synonym: "epileptic encephalopathy, early infantile, 17" EXACT [MONDO:Lexical, OMIM:615473]
synonym: "epileptic encephalopathy, early infantile, 17; EIEE17" RELATED [OMIM:615473]
synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2, OMIM:615473]
synonym: "GNAO1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378]
xref: GARD:0013378 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:615473 {source="MONDO:equivalentTo"}
xref: UMLS:C3809606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615473"}
is_a: MONDO:0016021 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/615473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809606

[Term]
id: MONDO:0014200
name: aldosterone-producing adenoma with seizures and neurological abnormalities
subset: ordo_disease {source="Orphanet:369929"}
synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "apa with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "PASNA" RELATED [MONDO:Lexical, OMIM:615474]
synonym: "primary aldosteronism, seizures, and neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615474]
synonym: "primary aldosteronism, seizures, and neurologic abnormalities; PASNA" RELATED [OMIM:615474]
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="ORDO:369929/attributed", source="ORDO:369929/ntbt", source="Orphanet:369929"}
xref: OMIM:615474 {source="MONDO:equivalentTo", source="ORDO:369929/e", source="Orphanet:369929"}
xref: Orphanet:369929 {source="MONDO:equivalentTo", source="OMIM:615474"}
xref: UMLS:C3809609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615474"}
is_a: MONDO:0016507 {source="Orphanet:369929"} ! rare surgically correctable form of primary aldosteronism
is_a: MONDO:0016525 {source="Orphanet:369929"} ! familial hyperaldosteronism
property_value: exactMatch http://identifiers.org/omim/615474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809609
property_value: exactMatch Orphanet:369929

[Term]
id: MONDO:0014201
name: early infantile epileptic encephalopathy without suppression burst
subset: ordo_disease {source="Orphanet:369894"}
synonym: "EIEE18" RELATED [MONDO:Lexical, OMIM:615476]
synonym: "epileptic encephalopathy, early infantile, 18" RELATED [MONDO:Lexical, OMIM:615476]
synonym: "epileptic encephalopathy, early infantile, 18; EIEE18" RELATED [OMIM:615476]
synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476]
xref: ICD10:G40.4 {source="ORDO:369894/attributed", source="ORDO:369894/ntbt", source="Orphanet:369894"}
xref: OMIM:615476 {source="MONDO:equivalentTo", source="Orphanet:369894", source="ORDO:369894/e"}
xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentTo"}
xref: UMLS:C3809624 {source="OMIM:615476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016021 {source="DC-OMIM:615476", source="OMIM:615476"} ! early infantile epileptic encephalopathy
is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome
property_value: exactMatch http://identifiers.org/omim/615476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809624
property_value: exactMatch Orphanet:369894

[Term]
id: MONDO:0014202
name: primary ciliary dyskinesia 24
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD24" EXACT [DOID:0110628, MONDO:Lexical, OMIM:615481]
synonym: "ciliary dyskinesia, primary, 24" RELATED [MONDO:Lexical, OMIM:615481]
synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [OMIM:615481]
synonym: "ciliary dyskinesia, primary, 24; CILD24" RELATED [OMIM:615481]
synonym: "ciliary dyskinesia, primary, type 24" EXACT [MONDORULE:2, OMIM:615481]
synonym: "primary ciliary dyskinesia 24 without situs inversus" EXACT [DOID:0110628]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 24" EXACT [DOID:0110628, MONDORULE:2]
synonym: "RSPH1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110628 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110628"}
xref: OMIM:615481 {source="DOID:0110628", source="MONDO:equivalentTo"}
xref: UMLS:C3809634 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615481"}
is_a: MONDO:0016575 {source="DC-OMIM:615481", source="DOID:0110628", source="MONDO:Redundant", source="MONDOLEX:0014202", source="OMIM:615481"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110628
property_value: exactMatch http://identifiers.org/omim/615481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809634

[Term]
id: MONDO:0014203
name: primary ciliary dyskinesia 25
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD25" EXACT [DOID:0110615, MONDO:Lexical, OMIM:615482]
synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical, OMIM:615482]
synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [OMIM:615482]
synonym: "ciliary dyskinesia, primary, 25; CILD25" RELATED [OMIM:615482]
synonym: "ciliary dyskinesia, primary, type 25" EXACT [MONDORULE:2, OMIM:615482]
synonym: "DNAAF4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [DOID:0110615]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF4" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 25" EXACT [DOID:0110615, MONDORULE:2]
xref: DOID:0110615 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110615"}
xref: OMIM:615482 {source="DOID:0110615", source="MONDO:equivalentTo"}
xref: UMLS:C3809641 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615482"}
is_a: MONDO:0016575 {source="DC-OMIM:615482", source="DOID:0110615", source="MONDO:Redundant", source="MONDOLEX:0014203", source="OMIM:615482"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110615
property_value: exactMatch http://identifiers.org/omim/615482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809641

[Term]
id: MONDO:0014204
name: basal ganglia calcification, idiopathic, 5
synonym: "basal ganglia calcification, idiopathic, 5" EXACT [MONDO:Lexical, OMIM:615483]
synonym: "basal ganglia calcification, idiopathic, 5; IBGC5" RELATED [OMIM:615483]
synonym: "basal ganglia calcification, idiopathic, type 5" EXACT [MONDORULE:1, OMIM:615483]
synonym: "IBGC5" RELATED [MONDO:Lexical, OMIM:615483]
xref: OMIM:615483 {source="MONDO:equivalentTo"}
xref: UMLS:C3809645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615483"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615483", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/omim/615483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809645

[Term]
id: MONDO:0014205
name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
subset: ordo_disease {source="Orphanet:352577"}
synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485]
synonym: "BAINBRIDGE-ROPERS syndrome; BRPS" RELATED [OMIM:615485]
synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577]
synonym: "BRPS" RELATED [MONDO:Lexical, OMIM:615485]
xref: ICD10:Q87.0 {source="ORDO:352577/attributed", source="ORDO:352577/ntbt", source="Orphanet:352577"}
xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="ORDO:352577/e"}
xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"}
xref: UMLS:C3809650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615485"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352577", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:352577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615485
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809650
property_value: exactMatch Orphanet:352577

[Term]
id: MONDO:0014206
name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
subset: ordo_disease {source="Orphanet:440427"}
synonym: "hereditary pulmonary alveolar proteinosis with hepatic involvement" EXACT [Orphanet:440427]
synonym: "ILLD" RELATED [MONDO:Lexical, OMIM:615486]
synonym: "infantile liver failure syndrome 2" RELATED [OMIM:615486]
synonym: "infantile liver failure syndrome 2, formerly" RELATED [OMIM:615486]
synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486, Orphanet:440427]
synonym: "interstitial lung and liver disease; ILLD" RELATED [OMIM:615486]
synonym: "PAP, Reunion island type" EXACT [Orphanet:440427]
synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486]
synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427]
xref: ICD10:J84.0 {source="ORDO:440427/attributed", source="ORDO:440427/ntbt", source="Orphanet:440427"}
xref: OMIM:615486 {source="MONDO:equivalentTo", source="Orphanet:440427", source="ORDO:440427/e"}
xref: Orphanet:440427 {source="MONDO:equivalentTo"}
xref: UMLS:C3809651 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615486"}
is_a: MONDO:0001437 {source="MONDO:cjm"} ! pulmonary alveolar proteinosis
is_a: MONDO:0015052 {source="Orphanet:440427"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
property_value: exactMatch http://identifiers.org/omim/615486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809651
property_value: exactMatch Orphanet:440427

[Term]
id: MONDO:0014207
name: age related macular degeneration 14
def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." [DOID:0110026, PMID:16518403]
synonym: "age related macular degeneration type 14" EXACT [DOID:0110026, MONDORULE:2]
synonym: "ARMD14" EXACT [DOID:0110026, MONDO:Lexical, OMIM:615489]
synonym: "macular degeneration, age-related, 14" RELATED [MONDO:Lexical, OMIM:615489]
synonym: "macular degeneration, age-related, 14; ARMD14" RELATED [OMIM:615489]
synonym: "macular Degeneration, age-related, reduced risk of" RELATED [OMIM:615489]
synonym: "macular Degeneration, age-related, type 14" EXACT [MONDORULE:2, OMIM:615489]
xref: DOID:0110026 {source="MONDO:equivalentTo"}
xref: OMIM:615489 {source="MONDO:equivalentTo", source="DOID:0110026"}
is_a: MONDO:0005150 {source="DC-OMIM:615489", source="DOID:0110026", source="OMIM:615489"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809653
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809654
property_value: exactMatch DOID:0110026
property_value: exactMatch http://identifiers.org/omim/615489

[Term]
id: MONDO:0014208
name: Charcot-Marie-Tooth disease type 2R
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0012451"}
subset: ordo_disease {source="Orphanet:397968"}
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451, OMIM:615490]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical, OMIM:615490]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2R; CMT2R" RELATED [OMIM:615490]
synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [DOID:0110161]
synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490]
synonym: "CMT2R" EXACT [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968]
synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110161 {source="MONDO:equivalentTo"}
xref: GARD:0012451 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:397968/attributed", source="ORDO:397968/ntbt", source="DOID:0110161", source="Orphanet:397968"}
xref: OMIM:615490 {source="DOID:0110161", source="MONDO:equivalentTo", source="ORDO:397968/e", source="Orphanet:397968"}
xref: Orphanet:397968 {source="DOID:0110161", source="MONDO:equivalentTo", source="OMIM:615490"}
xref: UMLS:C3809655 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615490"}
is_a: MONDO:0018993 {source="DOID:0110161", source="MONDO:Entailed", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0014208", source="Orphanet:397968"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110161
property_value: exactMatch http://identifiers.org/omim/615490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809655
property_value: exactMatch Orphanet:397968
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r xsd:anyURI {source="GARD:0012451"}

[Term]
id: MONDO:0014209
name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
def: "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." [Orphanet:352654]
subset: ordo_disease {source="Orphanet:352654"}
synonym: "NDGOA" RELATED [MONDO:Lexical, OMIM:615491]
synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491]
synonym: "neurodegeneration with optic atrophy, childhood-onset; NDGOA" RELATED [OMIM:615491]
synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491]
synonym: "spastic paraplegia 79, autosomal recessive; SPG79" RELATED [OMIM:615491]
synonym: "SPG79" RELATED [OMIM:615491]
xref: ICD10:G31.8 {source="ORDO:352654/attributed", source="ORDO:352654/ntbt", source="Orphanet:352654"}
xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="ORDO:352654/e"}
xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"}
xref: UMLS:C3809665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615491"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015150 ! complex hereditary spastic paraplegia
is_a: MONDO:0018609 {source="Orphanet:352654"} ! syndromic hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/omim/615491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809665
property_value: exactMatch Orphanet:352654

[Term]
id: MONDO:0014210
name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome
subset: ordo_disease {source="Orphanet:356996"}
synonym: "mental retardation, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:615493]
synonym: "mental retardation, autosomal recessive 37; MRT37" RELATED [OMIM:615493]
synonym: "mental retardation, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:615493]
synonym: "MRT37" RELATED [MONDO:Lexical, OMIM:615493]
xref: ICD10:G93.8 {source="Orphanet:356996", source="ORDO:356996/attributed", source="ORDO:356996/ntbt"}
xref: OMIM:615493 {source="ORDO:356996/e", source="Orphanet:356996", source="MONDO:equivalentTo"}
xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"}
xref: UMLS:C3809672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615493"}
is_a: MONDO:0000508 {source="Orphanet:356996"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/615493
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809672
property_value: exactMatch Orphanet:356996

[Term]
id: MONDO:0014211
name: primary ciliary dyskinesia 26
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CFAP298 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD26" EXACT [DOID:0110627, MONDO:Lexical, OMIM:615500]
synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical, OMIM:615500]
synonym: "ciliary dyskinesia, primary, 26, with or without situs inversus" RELATED [OMIM:615500]
synonym: "ciliary dyskinesia, primary, 26; CILD26" RELATED [OMIM:615500]
synonym: "ciliary dyskinesia, primary, type 26" EXACT [MONDORULE:2, OMIM:615500]
synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [DOID:0110627]
synonym: "primary ciliary dyskinesia caused by mutation in CFAP298" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 26" EXACT [DOID:0110627, MONDORULE:2]
xref: DOID:0110627 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110627"}
xref: OMIM:615500 {source="MONDO:equivalentTo", source="DOID:0110627"}
xref: UMLS:C3809684 {source="OMIM:615500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:615500", source="DOID:0110627", source="MONDO:Redundant", source="MONDOLEX:0014211", source="OMIM:615500"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110627
property_value: exactMatch http://identifiers.org/omim/615500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809684

[Term]
id: MONDO:0014212
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23." [DOID:0111166]
subset: ordo_etiological_subtype {source="Orphanet:308400"}
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [DOID:0111166, Orphanet:308400]
synonym: "MOCOD type C" EXACT [DOID:0111166, Orphanet:308400]
synonym: "MOCODC" EXACT [DOID:0111166, MONDO:Lexical, OMIM:615501]
synonym: "molybdenum cofactor deficiency complementation group C" EXACT [DOID:0111166]
synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166]
synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501]
synonym: "molybdenum cofactor deficiency, complementation group C; MOCODC" RELATED [OMIM:615501]
synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501]
xref: DOID:0111166 {source="MONDO:equivalentTo"}
xref: ICD10:E72.1 {source="ORDO:308400/attributed", source="ORDO:308400/ntbt", source="Orphanet:308400"}
xref: MESH:C565374 {source="MONDO:equivalentTo"}
xref: OMIM:615501 {source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400", source="ORDO:308400/e"}
xref: Orphanet:308400 {source="OMIM:615501", source="MONDO:equivalentTo", source="DOID:0111166"}
xref: PMID:11095995 {source="DOID:0111166"}
xref: UMLS:C1854990 {source="MEDGEN:kboom-pr98-c99", source="OMIM:615501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400"}
is_a: MONDO:0020480 {source="DOID:0111166", source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
property_value: exactMatch DOID:0111166
property_value: exactMatch http://identifiers.org/mesh/C565374
property_value: exactMatch http://identifiers.org/omim/615501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854990
property_value: exactMatch Orphanet:308400

[Term]
id: MONDO:0014213
name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
subset: ordo_disease {source="Orphanet:363611"}
synonym: "autosomal dominant mental retardation 21" EXACT [DOID:0070051]
synonym: "autosomal dominant non-syndromic intellectual disability 21" RELATED [DOID:0070051]
synonym: "mental retardation, autosomal dominant 21" RELATED [MONDO:Lexical, OMIM:615502]
synonym: "mental retardation, autosomal dominant 21; MRD21" RELATED [OMIM:615502]
synonym: "mental retardation, autosomal dominant type 21" EXACT [MONDORULE:2, OMIM:615502]
synonym: "MRD21" EXACT [DOID:0070051, MONDO:Lexical, OMIM:615502]
xref: DOID:0070051 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:363611/attributed", source="ORDO:363611/ntbt", source="Orphanet:363611"}
xref: OMIM:615502 {source="MONDO:equivalentTo", source="ORDO:363611/e", source="Orphanet:363611", source="DOID:0070051"}
xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"}
xref: UMLS:C3809686 {source="NCBI:mim2gene_medline", source="OMIM:615502", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363611", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:363611"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070051"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070051
property_value: exactMatch http://identifiers.org/omim/615502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809686
property_value: exactMatch Orphanet:363611

[Term]
id: MONDO:0014214
name: short-rib thoracic dysplasia 8 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." [DOID:0110094, PMID:23910462]
synonym: "short rib-polydactyly syndrome type VI" EXACT [DOID:0110094]
synonym: "short rib-polydactyly syndrome, type 6" RELATED [OMIM:615503]
synonym: "short-rib thoracic dysplasia 8 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615503]
synonym: "short-rib thoracic dysplasia 8 with or without polydactyly; SRTD8" RELATED [OMIM:615503]
synonym: "SRPS6" EXACT [DOID:0110094]
synonym: "SRTD8" EXACT [DOID:0110094, MONDO:Lexical, OMIM:615503]
xref: DOID:0110094 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110094"}
xref: OMIM:615503 {source="MONDO:equivalentTo", source="DOID:0110094"}
xref: UMLS:C3809691 {source="OMIM:615503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110094", source="OMIM:615503"} ! Jeune syndrome
is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
property_value: exactMatch DOID:0110094
property_value: exactMatch http://identifiers.org/omim/615503
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809691

[Term]
id: MONDO:0014215
name: primary ciliary dyskinesia 27
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC65 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD27" EXACT [DOID:0110611, MONDO:Lexical, OMIM:615504]
synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical, OMIM:615504]
synonym: "ciliary dyskinesia, primary, 27, without situs inversus" RELATED [OMIM:615504]
synonym: "ciliary dyskinesia, primary, 27; CILD27" RELATED [OMIM:615504]
synonym: "ciliary dyskinesia, primary, type 27" EXACT [MONDORULE:2, OMIM:615504]
synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [DOID:0110611]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC65" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 27" EXACT [DOID:0110611, MONDORULE:2]
xref: DOID:0110611 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110611"}
xref: OMIM:615504 {source="DOID:0110611", source="MONDO:equivalentTo"}
xref: UMLS:C3809701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615504"}
is_a: MONDO:0016575 {source="DC-OMIM:615504", source="DOID:0110611", source="MONDO:Redundant", source="MONDOLEX:0014215", source="OMIM:615504"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110611
property_value: exactMatch http://identifiers.org/omim/615504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809701

[Term]
id: MONDO:0014216
name: primary ciliary dyskinesia 28
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD28" EXACT [DOID:0110607, MONDO:Lexical, OMIM:615505]
synonym: "ciliary dyskinesia, primary, 28" RELATED [MONDO:Lexical, OMIM:615505]
synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELATED [OMIM:615505]
synonym: "ciliary dyskinesia, primary, 28; CILD28" RELATED [OMIM:615505]
synonym: "ciliary dyskinesia, primary, type 28" EXACT [MONDORULE:2, OMIM:615505]
synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [DOID:0110607]
synonym: "primary ciliary dyskinesia caused by mutation in SPAG1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 28" EXACT [DOID:0110607, MONDORULE:2]
synonym: "SPAG1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110607 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110607"}
xref: OMIM:615505 {source="MONDO:equivalentTo", source="DOID:0110607"}
xref: UMLS:C3809706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615505"}
is_a: MONDO:0016575 {source="DC-OMIM:615505", source="DOID:0110607", source="MONDO:Redundant", source="MONDOLEX:0014216", source="OMIM:615505"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110607
property_value: exactMatch http://identifiers.org/omim/615505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809706

[Term]
id: MONDO:0014217
name: telangiectasia, hereditary hemorrhagic, type 5
def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GDF2 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hemorrhagic telangiectasia caused by mutation in GDF2" EXACT [MONDO:design_pattern]
synonym: "HHT5" RELATED [MONDO:Lexical, OMIM:615506]
synonym: "telangiectasia, hereditary hemorrhagic, type 5" EXACT [MONDO:Lexical, OMIM:615506]
synonym: "telangiectasia, hereditary hemorrhagic, type 5; HHT5" RELATED [OMIM:615506]
xref: OMIM:615506 {source="MONDO:equivalentTo"}
xref: UMLS:C3809710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615506"}
is_a: MONDO:0019180 {source="DC-OMIM:615506", source="MONDO:Redundant", source="MONDOLEX:0014217", source="OMIM:615506"} ! hereditary hemorrhagic telangiectasia
property_value: exactMatch http://identifiers.org/omim/615506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809710

[Term]
id: MONDO:0014218
name: severe dermatitis-multiple allergies-metabolic wasting syndrome
subset: ordo_disease {source="Orphanet:369992"}
synonym: "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" EXACT [Orphanet:369992]
synonym: "EPKHE" RELATED [MONDO:Lexical, OMIM:615508]
synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" RELATED [MONDO:Lexical, OMIM:615508]
synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE; EPKHE" RELATED [OMIM:615508]
synonym: "SAM syndrome" EXACT [Orphanet:369992]
synonym: "Sam syndrome" RELATED [OMIM:615508]
synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508]
xref: ICD10:Q82.8 {source="ORDO:369992/attributed", source="ORDO:369992/ntbt", source="Orphanet:369992"}
xref: OMIM:615508 {source="MONDO:equivalentTo", source="ORDO:369992/e", source="Orphanet:369992"}
xref: Orphanet:369992 {source="MONDO:equivalentTo", source="OMIM:615508"}
xref: UMLS:C3809719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615508"}
is_a: MONDO:0005271 {source="Orphanet:369992"} ! allergic disease
is_a: MONDO:0018037 {source="Orphanet:369992"} ! hyper-IgE syndrome
is_a: MONDO:0019274 {source="Orphanet:369992"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:369992"} ! other genetic epidermal disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/omim/615508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809719
property_value: exactMatch Orphanet:369992

[Term]
id: MONDO:0014219
name: alacrima, achalasia, and mental retardation syndrome
synonym: "AAMR" RELATED [MONDO:Lexical, OMIM:615510]
synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT [MONDO:Lexical, OMIM:615510]
synonym: "alacrima, achalasia, and mental retardation syndrome; AAMR" RELATED [OMIM:615510]
synonym: "GMPPA-CDG" RELATED [GARD:0012404]
xref: GARD:0012404 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:615510 {source="MONDO:equivalentTo"}
xref: UMLS:C3809738 {source="OMIM:615510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0020194 {source="Orphanet:869"} ! congenital alacrima
property_value: exactMatch http://identifiers.org/omim/615510
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809738

[Term]
id: MONDO:0014220
name: myopathy due to myoadenylate deaminase deficiency
subset: gard_rare
subset: prototype_pattern
synonym: "adenosine monophosphate deaminase 1 deficiency" RELATED [GARD:0000547]
synonym: "adenosine monophosphate deaminase deficiency" RELATED [GARD:0000547]
synonym: "adenosine monophosphate deaminase-1 deficiency, myopathy due to" RELATED [OMIM:615511]
synonym: "AMP deaminase 1 deficiency" RELATED [GARD:0000547]
synonym: "AMP deaminase deficiency" RELATED [GARD:0000547]
synonym: "AMPD1 deficiency" RELATED [GARD:0000547, OMIM:615511]
synonym: "MMDD" RELATED [GARD:0000547, MONDO:Lexical, OMIM:615511]
synonym: "myoadenylate deaminase deficiency" RELATED [GARD:0000547]
synonym: "myoadenylate deaminase deficiency, myopathy due to" RELATED [OMIM:615511]
synonym: "myopathy due to myoadenylate deaminase deficiency" EXACT [GARD:0000547, MONDO:Lexical, OMIM:615511]
synonym: "myopathy due to myoadenylate deaminase deficiency; MMDD" RELATED [OMIM:615511]
xref: GARD:0000547 {source="MONDO:equivalentTo"}
xref: OMIM:615511 {source="MONDO:equivalentTo", source="GARD:0000547"}
is_a: MONDO:0013028 {source="ORDO:45/btnt"} ! adenosine monophosphate deaminase deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714933
property_value: exactMatch http://identifiers.org/omim/615511
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency xsd:anyURI {source="GARD:0000547"}

[Term]
id: MONDO:0014221
name: triosephosphate isomerase deficiency
def: "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." [Orphanet:868]
subset: gard_rare {source="GARD:0005287"}
subset: ordo_disease {source="Orphanet:868"}
synonym: "TPI deficiency" RELATED [GARD:0005287]
synonym: "TPID" RELATED [MONDO:Lexical, OMIM:615512]
synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884]
synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512]
synonym: "triosephosphate isomerase deficiency; TPID" RELATED [OMIM:615512]
xref: DOID:0050884 {source="MONDO:equivalentTo"}
xref: GARD:0005287 {source="MONDO:equivalentTo"}
xref: ICD10:D55.2 {source="Orphanet:868", source="ORDO:868/attributed", source="ORDO:868/ntbt"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C566029 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131652 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIM:615512 {source="ORDO:868/e", source="DOID:0050884", source="MONDO:equivalentTo", source="Orphanet:868"}
xref: Orphanet:868 {source="OMIM:615512", source="MONDO:equivalentTo"}
xref: SCTID:234405009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1860808 {source="OMIM:615512", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:868", source="NCIT:C131652"}
is_a: MONDO:0002908 {source="DOID:0050884"} ! glucose metabolism disease
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0016401 {source="Orphanet:868"} ! energy metabolism disorder with epilepsy
is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:868"} ! disorder of glycolysis
is_a: MONDO:0019058 {source="Orphanet:868"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0020106 {source="Orphanet:868"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: exactMatch DOID:0050884
property_value: exactMatch http://identifiers.org/mesh/C566029
property_value: exactMatch http://identifiers.org/omim/615512
property_value: exactMatch http://identifiers.org/snomedct/234405009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860808
property_value: exactMatch NCIT:C131652
property_value: exactMatch Orphanet:868
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency xsd:anyURI {source="GARD:0005287"}

[Term]
id: MONDO:0014222
name: immunodeficiency 14
synonym: "Activated PI3K-Delta syndrome" RELATED [OMIM:615513]
synonym: "IMD14" RELATED [MONDO:Lexical, OMIM:615513]
synonym: "immunodeficiency 14" EXACT [MONDO:Lexical, OMIM:615513]
synonym: "immunodeficiency 14; IMD14" RELATED [OMIM:615513]
synonym: "immunodeficiency type 14" EXACT [MONDORULE:2, OMIM:615513]
synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" RELATED [OMIM:615513]
xref: OMIM:615513 {source="MONDO:equivalentTo"}
is_a: MONDO:0018338 {source="ORDO:397596/btnt"} ! activated PI3K-delta syndrome
property_value: exactMatch http://identifiers.org/omim/615513

[Term]
id: MONDO:0014223
name: amyotrophic lateral sclerosis type 19
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515]
synonym: "amyotrophic lateral sclerosis 19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515]
synonym: "amyotrophic lateral sclerosis 19; ALS19" RELATED [OMIM:615515]
synonym: "amyotrophic lateral sclerosis caused by mutation in ERBB4" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 19" EXACT [MONDORULE:2, OMIM:615515]
synonym: "ERBB4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060210 {source="MONDO:equivalentTo"}
xref: OMIM:615515 {source="DOID:0060210", source="MONDO:equivalentTo"}
xref: UMLS:C3715155 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615515"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060210
property_value: exactMatch http://identifiers.org/omim/615515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715155

[Term]
id: MONDO:0014224
name: developmental delay with autism spectrum disorder and gait instability
def: "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." [Orphanet:329195]
subset: ordo_disease {source="Orphanet:329195"}
synonym: "developmental delay with ASD and gait instability" EXACT [Orphanet:329195]
synonym: "mental retardation, autosomal recessive 38" RELATED [MONDO:Lexical, OMIM:615516]
synonym: "mental retardation, autosomal recessive 38; MRT38" RELATED [OMIM:615516]
synonym: "mental retardation, autosomal recessive type 38" EXACT [MONDORULE:2, OMIM:615516]
synonym: "MRT38" RELATED [MONDO:Lexical, OMIM:615516]
xref: OMIM:615516 {source="Orphanet:329195", source="ORDO:329195/e", source="MONDO:equivalentTo"}
xref: Orphanet:329195 {source="MONDO:equivalentTo", source="OMIM:615516"}
xref: UMLS:C3809753 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615516"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019502 {source="OMIM:615516"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/615516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809753
property_value: exactMatch Orphanet:329195

[Term]
id: MONDO:0014225
name: hemochromatosis type 5
def: "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor notes: ORDO treats this as two diseases
subset: merged_class
subset: ordo_disease {source="Orphanet:247790", source="Orphanet:447792"}
synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FTH1-associated iron overload" EXACT [DOID:0111031, Orphanet:247790]
synonym: "FTH1-related iron overload" EXACT [DOID:0111031]
synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical, OMIM:615517]
synonym: "hemochromatosis, type 5; HFE5" RELATED [OMIM:615517]
synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:design_pattern]
synonym: "HFE5" EXACT [DOID:0111031, MONDO:Lexical, OMIM:615517]
synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517]
xref: DOID:0111031 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="ORDO:247790/attributed", source="ORDO:247790/ntbt", source="ORDO:447792/attributed", source="ORDO:447792/ntbt", source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792"}
xref: MESH:C565020 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615517 {source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790", source="ORDO:247790/e"}
xref: Orphanet:247790 {source="MONDO:equivalentTo", source="DOID:0111031", source="OMIM:615517"}
xref: Orphanet:447792 {source="MONDO:equivalentTo"}
xref: UMLS:C1851316 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:615517"}
xref: UMLS:CN181217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN237708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006507 {source="DOID:0111031", source="MONDO:Redundant", source="OMIM:615517", source="Orphanet:447792", source="indirect"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0016363"} ! rare
property_value: exactMatch DOID:0111031
property_value: exactMatch http://identifiers.org/mesh/C565020
property_value: exactMatch http://identifiers.org/omim/615517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237708
property_value: exactMatch Orphanet:247790
property_value: exactMatch Orphanet:447792

[Term]
id: MONDO:0014226
name: idiopathic CD4 lymphocytopenia
def: "Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." [Orphanet:228000]
subset: ordo_disease {source="Orphanet:228000"}
synonym: "ICL" RELATED [GARD:0012375]
synonym: "idiopathic Cd4 lymphopenia" RELATED [OMIM:615518]
synonym: "idiopathic CD4 positive T-lymphocytopenia" RELATED [GARD:0012375]
synonym: "IMD13" RELATED [MONDO:Lexical, OMIM:615518]
synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518]
synonym: "immunodeficiency 13; IMD13" RELATED [OMIM:615518]
synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518]
xref: GARD:0012375 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D72.8 {source="ORDO:228000/attributed", source="ORDO:228000/ntbt", source="Orphanet:228000"}
xref: OMIM:615518 {source="MONDO:equivalentTo", source="ORDO:228000/e", source="Orphanet:228000"}
xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"}
xref: SCTID:763713000 {source="MONDO:equivalentTo"}
xref: UMLS:C3809768 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615518"}
is_a: MONDO:0018814 {source="Orphanet:228000"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615518
property_value: exactMatch http://identifiers.org/snomedct/763713000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809768
property_value: exactMatch Orphanet:228000

[Term]
id: MONDO:0014227
name: hypopigmentation-punctate palmoplantar keratoderma syndrome
subset: ordo_disease {source="Orphanet:324561"}
synonym: "COLE disease" RELATED [MONDO:Lexical, OMIM:615522]
synonym: "Cole disease" EXACT [Orphanet:324561]
synonym: "COLE disease; COLED" RELATED [OMIM:615522]
synonym: "COLED" RELATED [MONDO:Lexical, OMIM:615522]
synonym: "guttate hypopigmentation" RELATED [GARD:0012384]
synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma" EXACT [Orphanet:324561]
synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [OMIM:615522]
synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561]
synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384]
xref: GARD:0012384 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:324561", source="ORDO:324561/attributed", source="ORDO:324561/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:615522 {source="MONDO:equivalentTo", source="Orphanet:324561", source="ORDO:324561/e"}
xref: Orphanet:324561 {source="OMIM:615522", source="MONDO:equivalentTo"}
xref: SCTID:711154007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.29"}
xref: UMLS:C3809781 {source="OMIM:615522", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017679 {source="Orphanet:324561"} ! autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/omim/615522
property_value: exactMatch http://identifiers.org/snomedct/711154007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809781
property_value: exactMatch Orphanet:324561

[Term]
id: MONDO:0014228
name: corneal dystrophy, Fuchs endothelial, 8
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGBL1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 8" EXACT [MONDO:Lexical, OMIM:615523]
synonym: "corneal dystrophy, Fuchs endothelial, 8; FECD8" RELATED [OMIM:615523]
synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1, OMIM:615523]
synonym: "FECD8" RELATED [MONDO:Lexical, OMIM:615523]
synonym: "Fuchs' endothelial dystrophy caused by mutation in AGBL1" EXACT [MONDO:design_pattern]
xref: OMIM:615523 {source="MONDO:equivalentTo"}
xref: UMLS:C3809798 {source="OMIM:615523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005321 {source="DC-OMIM:615523", source="MONDO:Redundant", source="MONDOLEX:0014228", source="OMIM:615523"} ! Fuchs' endothelial dystrophy
property_value: exactMatch http://identifiers.org/omim/615523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809798

[Term]
id: MONDO:0014229
name: microphthalmia, syndromic 12
def: "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum ( Chiari type I malformation ) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." [https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12]
subset: gard_rare {source="GARD:0013235"}
synonym: "MCOPS12" RELATED [MONDO:Lexical, OMIM:615524]
synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects" RELATED [OMIM:615524]
synonym: "microphthalmia, syndromic 12" EXACT [MONDO:Lexical, OMIM:615524]
synonym: "microphthalmia, syndromic 12; MCOPS12" RELATED [OMIM:615524]
synonym: "microphthalmia, syndromic type 12" EXACT [MONDORULE:2, OMIM:615524]
synonym: "RARB syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "syndromic microphthalmia caused by mutation in RARB" EXACT [MONDO:design_pattern]
synonym: "syndromic microphthalmia-12" RELATED [GARD:0013235]
xref: GARD:0013235 {source="MONDO:equivalentTo"}
xref: OMIM:615524 {source="MONDO:equivalentTo"}
xref: UMLS:C3809803 {source="NCBI:mim2gene_medline", source="OMIM:615524", source="MONDO:equivalentTo"}
is_a: MONDO:0016073 {source="MONDO:Redundant", source="OMIM:615524", source="indirect"} ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/omim/615524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809803
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 xsd:anyURI {source="GARD:0013235"}

[Term]
id: MONDO:0014230
name: candidiasis, familial, 8
def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CANDF8" RELATED [MONDO:Lexical, OMIM:615527]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:615527]
synonym: "candidiasis, familial, 8" EXACT [MONDO:Lexical, OMIM:615527]
synonym: "candidiasis, familial, 8; CANDF8" RELATED [OMIM:615527]
synonym: "candidiasis, familial, type 8" EXACT [MONDORULE:1, OMIM:615527]
synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2" EXACT []
synonym: "TRAF3IP2 chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:615527 {source="MONDO:equivalentTo"}
xref: UMLS:C3714992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615527"}
is_a: MONDO:0015279 {source="MONDOLEX:0014230", source="OMIM:615527"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/615527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714992

[Term]
id: MONDO:0014231
name: juvenile onset Parkinson disease 19A
def: "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNAJC6 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "juvenile onset Parkinson disease type 19A" EXACT [DOID:0060891, MONDORULE:4]
synonym: "juvenile onset Parkinson's disease 19A" RELATED [DOID:0060891]
synonym: "PARK19" RELATED [MONDO:Lexical, OMIM:615528]
synonym: "Park19, formerly" RELATED [OMIM:615528]
synonym: "PARK19A" RELATED [OMIM:615528]
synonym: "Parkinson disease 19, juvenile-onset" RELATED [MONDO:Lexical, OMIM:615528]
synonym: "Parkinson disease 19, juvenile-onset; PARK19" RELATED [OMIM:615528]
synonym: "Parkinson disease 19A, juvenile-onset" RELATED [OMIM:615528]
synonym: "Parkinson disease 19A, juvenile-onset; PARK19A" RELATED [OMIM:615528]
synonym: "Parkinson disease 19B, early-onset" RELATED [OMIM:615528]
synonym: "Parkinson disease caused by mutation in DNAJC6" EXACT [MONDO:design_pattern]
xref: DOID:0060891 {source="MONDO:equivalentTo"}
xref: ICD10:G20 {source="DOID:0060891"}
xref: OMIM:615528 {source="DOID:0060891", source="MONDO:equivalentTo"}
xref: UMLS:C3809811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615528"}
is_a: MONDO:0000828 {source="DOID:0060891"} ! juvenile-onset Parkinson disease
is_a: MONDO:0018321 {source="ORDO:391411/btnt"} ! atypical juvenile parkinsonism
property_value: exactMatch DOID:0060891
property_value: exactMatch http://identifiers.org/omim/615528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809811

[Term]
id: MONDO:0014232
name: craniosynostosis 5, susceptibility to
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ALX4 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:615529]
synonym: "craniosynostosis 5, susceptibility to; CRS5" RELATED [OMIM:615529]
synonym: "craniosynostosis caused by mutation in ALX4" EXACT [MONDO:design_pattern]
synonym: "CRS5" RELATED [MONDO:Lexical, OMIM:615529]
synonym: "susceptibility to craniosynostosis 5" RELATED [OMIM:615529]
xref: OMIM:615529 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:615529", source="indirect"} ! craniosynostosis
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015469 ! craniosynostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809819
property_value: exactMatch http://identifiers.org/omim/615529

[Term]
id: MONDO:0014233
name: early-onset Parkinson disease 20
def: "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early-onset Parkinson disease type 20" EXACT [DOID:0060898, MONDORULE:2]
synonym: "early-onset Parkinson's disease 20" RELATED [DOID:0060898]
synonym: "PARK20" RELATED [MONDO:Lexical, OMIM:615530]
synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical, OMIM:615530]
synonym: "Parkinson disease 20, early-onset; PARK20" RELATED [OMIM:615530]
synonym: "Parkinson disease caused by mutation in SYNJ1" EXACT [MONDO:design_pattern]
synonym: "SYNJ1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060898 {source="MONDO:equivalentTo"}
xref: OMIM:615530 {source="MONDO:equivalentTo", source="DOID:0060898"}
xref: UMLS:C3809824 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615530"}
is_a: MONDO:0017279 {source="DOID:0060898", source="MONDOLEX:0014233"} ! young-onset Parkinson disease
property_value: exactMatch DOID:0060898
property_value: exactMatch http://identifiers.org/omim/615530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809824

[Term]
id: MONDO:0014234
name: reticulate acropigmentation of Kitamura
def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [DOID:0060258, PMID:22808308]
subset: ordo_disease {source="Orphanet:178307"}
synonym: "acropigmentatio reticularis" RELATED [OMIM:615537]
synonym: "Kitamura reticulate acropigmentation" RELATED [OMIM:615537]
synonym: "RAK" RELATED [MONDO:Lexical, OMIM:615537]
synonym: "RAPK" EXACT [DOID:0060258, Orphanet:178307]
synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537]
synonym: "reticulate acropigmentation of Kitamura; RAK" RELATED [OMIM:615537]
synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537]
xref: DOID:0060258 {source="MONDO:equivalentTo"}
xref: ICD10:L81.8 {source="ORDO:178307/attributed", source="ORDO:178307/ntbt", source="Orphanet:178307"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:615537 {source="MONDO:equivalentTo", source="DOID:0060258", source="ORDO:178307/e", source="Orphanet:178307"}
xref: Orphanet:178307 {source="MONDO:equivalentTo", source="DOID:0060258", source="OMIM:615537"}
xref: SCTID:239133004 {source="MONDO:equivalentTo", source="DOID:0060258", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000118 {source="DC-OMIM:615537", source="OMIM:615537"} ! reticulate pigment disorder
is_a: MONDO:0019289 {source="Orphanet:178307"} ! hyperpigmentation of the skin
property_value: exactMatch DOID:0060258
property_value: exactMatch http://identifiers.org/omim/615537
property_value: exactMatch http://identifiers.org/snomedct/239133004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406811
property_value: exactMatch Orphanet:178307

[Term]
id: MONDO:0014235
name: chromosome 22q13 duplication syndrome
synonym: "chromosome 22q13 duplication syndrome" EXACT [OMIM:615538]
xref: DOID:0060437 {source="MONDO:equivalentTo"}
xref: OMIM:615538 {source="MONDO:equivalentTo", source="DOID:0060437"}
xref: UMLS:C3809844 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615538"}
is_a: MONDO:0000762 {source="DC-OMIM:615538", source="DOID:0060437"} ! syndrome caused by partial chromosomal duplication
property_value: exactMatch DOID:0060437
property_value: exactMatch http://identifiers.org/omim/615538
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809844

[Term]
id: MONDO:0014236
name: Ehlers-Danlos syndrome, musculocontractural type 2
def: "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DSE Ehlers-Danlos syndrome, musculocontractural type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EDSMC2" RELATED [MONDO:Lexical, OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT [MONDO:Lexical, OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2" RELATED [OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE" EXACT [MONDO:design_pattern]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2" RELATED [OMIM:615539]
xref: OMIM:615539 {source="MONDO:equivalentTo"}
xref: UMLS:C3809845 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615539"}
is_a: MONDO:0011142 {source="MONDO:Redundant", source="MONDOLEX:0014236", source="ORDO:2953/btnt"} ! Ehlers-Danlos syndrome, musculocontractural type
property_value: exactMatch http://identifiers.org/omim/615539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809845

[Term]
id: MONDO:0014237
name: autosomal recessive nonsyndromic deafness 76
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "autosomal recessive deafness 76" EXACT [DOID:0110524]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 76" EXACT [DOID:0110524, MONDORULE:2]
synonym: "deafness, autosomal recessive 76" RELATED [MONDO:Lexical, OMIM:615540]
synonym: "deafness, autosomal recessive 76; DFNB76" RELATED [OMIM:615540]
synonym: "deafness, autosomal recessive type 76" EXACT [MONDORULE:2, OMIM:615540]
synonym: "DFNB76" EXACT [DOID:0110524, MONDO:Lexical, OMIM:615540]
synonym: "SYNE4 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110524 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110524"}
xref: OMIM:615540 {source="DOID:0110524", source="MONDO:equivalentTo"}
xref: UMLS:C3147083 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615540"}
is_a: MONDO:0019588 {source="DC-OMIM:615540", source="DOID:0110524", source="MONDO:Redundant", source="OMIM:615540"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110524
property_value: exactMatch http://identifiers.org/omim/615540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3147083

[Term]
id: MONDO:0014238
name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:391307"}
synonym: "mental retardation, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:615541]
synonym: "mental retardation, autosomal recessive 39; MRT39" RELATED [OMIM:615541]
synonym: "mental retardation, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:615541]
synonym: "MRT39" RELATED [MONDO:Lexical, OMIM:615541]
xref: ICD10:Q87.8 {source="Orphanet:391307", source="ORDO:391307/attributed", source="ORDO:391307/ntbt"}
xref: OMIM:615541 {source="Orphanet:391307", source="ORDO:391307/e", source="MONDO:equivalentTo"}
xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"}
xref: UMLS:C3809853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615541"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:391307", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:391307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809853
property_value: exactMatch Orphanet:391307

[Term]
id: MONDO:0014239
name: testicular anomalies with or without congenital heart disease
synonym: "TACHD" RELATED [MONDO:Lexical, OMIM:615542]
synonym: "testicular anomalies with or without congenital heart disease" EXACT [MONDO:Lexical, OMIM:615542]
synonym: "testicular anomalies with or without congenital heart disease; TACHD" RELATED [OMIM:615542]
xref: OMIM:615542 {source="MONDO:equivalentTo"}
xref: UMLS:C3809858 {source="OMIM:615542", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/615542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809858

[Term]
id: MONDO:0014240
name: periventricular nodular heterotopia 6
def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERMARD periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "periventricular nodular heterotopia 6" EXACT [MONDO:Lexical, OMIM:615544]
synonym: "periventricular nodular heterotopia 6; PVNH6" RELATED [OMIM:615544]
synonym: "periventricular nodular heterotopia caused by mutation in ERMARD" EXACT [MONDO:design_pattern]
synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1, OMIM:615544]
synonym: "PVNH6" RELATED [MONDO:Lexical, OMIM:615544]
xref: OMIM:615544 {source="MONDO:equivalentTo"}
xref: UMLS:C3809872 {source="OMIM:615544", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020341 {source="DC-OMIM:615544", source="MONDO:Redundant", source="MONDOLEX:0014240"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/omim/615544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809872

[Term]
id: MONDO:0014241
name: leukemia, acute lymphoblastic, susceptibility to, 3
def: "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ALL3" RELATED [MONDO:Lexical, OMIM:615545]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:615545]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 3; ALL3" RELATED [OMIM:615545]
synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:615545]
synonym: "PAX5 precursor B-cell acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" EXACT [MONDO:design_pattern]
synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545]
xref: OMIM:615545 {source="MONDO:equivalentTo"}
xref: UMLS:C3809874 {source="OMIM:615545", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020511 {source="MONDO:Redundant", source="ORDO:99860/btnt"} ! precursor B-cell acute lymphoblastic leukemia
is_a: MONDO:0020573 {source="OMIM:615545"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004967 ! acute lymphoblastic leukemia (disease)
property_value: exactMatch http://identifiers.org/omim/615545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809874

[Term]
id: MONDO:0014242
name: van Maldergem syndrome 2
def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FAT4 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "van Maldergem syndrome 2" EXACT [MONDO:Lexical, OMIM:615546]
synonym: "VAN Maldergem syndrome 2; VMLDS2" RELATED [OMIM:615546]
synonym: "van Maldergem syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern]
synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1, OMIM:615546]
synonym: "VMLDS2" RELATED [MONDO:Lexical, OMIM:615546]
xref: OMIM:615546 {source="MONDO:equivalentTo"}
xref: UMLS:C3809875 {source="NCBI:mim2gene_medline", source="OMIM:615546", source="MONDO:equivalentTo"}
is_a: MONDO:0017813 {source="DC-OMIM:615546", source="MONDO:Redundant", source="OMIM:615546"} ! van Maldergem syndrome
property_value: exactMatch http://identifiers.org/omim/615546
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809875

[Term]
id: MONDO:0014243
name: Prader-Willi syndrome due to point mutation
subset: ordo_etiological_subtype {source="Orphanet:398069"}
synonym: "Prader-Willi syndrome due to a point mutation" RELATED [Orphanet:398069]
synonym: "Prader-Willi-like syndrome" RELATED [OMIM:615547]
synonym: "PWS due to a point mutation" EXACT [Orphanet:398069]
synonym: "PWS due to point mutation" EXACT [Orphanet:398069]
synonym: "Schaaf-YANG syndrome" RELATED [MONDO:Lexical, OMIM:615547]
synonym: "Schaaf-Yang syndrome" EXACT [Orphanet:398069]
synonym: "Schaaf-YANG syndrome; SHFYNG" RELATED [OMIM:615547]
synonym: "SHFYNG" RELATED [MONDO:Lexical, OMIM:615547]
xref: GARD:0013316 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.1 {source="Orphanet:398069", source="ORDO:398069/attributed", source="ORDO:398069/ntbt"}
xref: OMIM:615547 {source="Orphanet:398069", source="ORDO:398069/e", source="MONDO:equivalentTo"}
xref: Orphanet:398069 {source="OMIM:615547", source="MONDO:equivalentTo"}
xref: UMLS:C3809877 {source="OMIM:615547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008300 {source="Orphanet:398069"} ! Prader-Willi syndrome
property_value: exactMatch http://identifiers.org/omim/615547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809877
property_value: exactMatch Orphanet:398069

[Term]
id: MONDO:0014244
name: hereditary sensory and autonomic neuropathy type 7
def: "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive , painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" [https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7]
subset: gard_rare {source="GARD:0012732"}
subset: ordo_disease {source="Orphanet:391397"}
synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern]
synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, Orphanet:391397]
synonym: "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "HSAN 7" RELATED [OMIM:615548]
synonym: "HSAN VII" EXACT [NCIT:C125388]
synonym: "HSAN with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "HSAN7" EXACT [DOID:0070149, MONDO:Lexical, OMIM:615548, Orphanet:391397]
synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis" RELATED [OMIM:615548]
synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:615548]
synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548]
synonym: "neuropathy, hereditary sensory and autonomic, type VII; HSAN7" RELATED [OMIM:615548]
synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070149 {source="MONDO:equivalentTo"}
xref: GARD:0012732 {source="MONDO:equivalentTo"}
xref: GARD:12723 {source="DOID:0070149"}
xref: ICD10:G60.8 {source="ORDO:391397/attributed", source="ORDO:391397/ntbt", source="DOID:0070149", source="Orphanet:391397"}
xref: NCIT:C125388 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: OMIM:615548 {source="MONDO:equivalentTo", source="ORDO:391397/e", source="DOID:0070149", source="Orphanet:391397"}
xref: Orphanet:391397 {source="MONDO:equivalentTo", source="OMIM:615548", source="DOID:0070149"}
xref: UMLS:C3809882 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C125388", source="OMIM:615548"}
is_a: MONDO:0015365 {source="MONDO:Redundant", source="Orphanet:391397"} ! autosomal dominant hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070149
property_value: exactMatch http://identifiers.org/omim/615548
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809882
property_value: exactMatch NCIT:C125388
property_value: exactMatch Orphanet:391397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 xsd:anyURI {source="GARD:0012732"}

[Term]
id: MONDO:0014245
name: Diamond-Blackfan anemia 12
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA12" RELATED [MONDO:Lexical, OMIM:615550]
synonym: "Diamond-Blackfan anemia 12" EXACT [MONDO:Lexical, OMIM:615550]
synonym: "Diamond-Blackfan anemia 12; DBA12" RELATED [OMIM:615550]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL15" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550]
synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615550 {source="MONDO:equivalentTo"}
xref: UMLS:C3809888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615550"}
is_a: MONDO:0015253 {source="DC-OMIM:615550", source="MONDO:Redundant", source="MONDOLEX:0014245", source="OMIM:615550"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/615550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809888

[Term]
id: MONDO:0014246
name: episodic pain syndrome, familial, 2
def: "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "episodic pain syndrome, familial, 2" EXACT [MONDO:Lexical, OMIM:615551]
synonym: "episodic pain syndrome, familial, 2; FEPS2" RELATED [OMIM:615551]
synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615551]
synonym: "familial episodic pain syndrome caused by mutation in SCN10A" EXACT [MONDO:design_pattern]
synonym: "FEPS2" RELATED [MONDO:Lexical, OMIM:615551]
synonym: "SCN10A familial episodic pain syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615551 {source="MONDO:equivalentTo"}
xref: UMLS:C3809893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615551"}
is_a: MONDO:0017629 {source="ORDO:306577/btnt"} ! sodium channelopathy-related small fiber neuropathy
is_a: MONDO:0018319 {source="DC-OMIM:615551", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome
property_value: exactMatch http://identifiers.org/omim/615551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809893

[Term]
id: MONDO:0014247
name: familial episodic pain syndrome with predominantly lower limb involvement
def: "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." [NCIT:C125390]
subset: ordo_clinical_subtype {source="Orphanet:391392"}
synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552]
synonym: "episodic pain syndrome, familial, 3; FEPS3" RELATED [OMIM:615552]
synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552]
synonym: "FEPS3" RELATED [MONDO:Lexical, OMIM:615552]
xref: ICD10:M79.6 {source="Orphanet:391392", source="ORDO:391392/attributed", source="ORDO:391392/ntbt"}
xref: NCIT:C125390 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.02"}
xref: OMIM:615552 {source="Orphanet:391392", source="ORDO:391392/e", source="MONDO:equivalentTo"}
xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"}
xref: UMLS:C3809899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615552", source="NCIT:C125390"}
is_a: MONDO:0002254 {source="MONDOLEX:0014247", source="NCIT:C125390"} ! syndromic disease
is_a: MONDO:0018319 {source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome
property_value: exactMatch http://identifiers.org/omim/615552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809899
property_value: exactMatch NCIT:C125390
property_value: exactMatch Orphanet:391392

[Term]
id: MONDO:0014248
name: autism spectrum disorder - epilepsy - arthrogryposis syndrome
def: "(1p21)." [Orphanet:370943]
subset: ordo_disease {source="Orphanet:370943"}
synonym: "AMRS" RELATED [MONDO:Lexical, OMIM:615553]
synonym: "arthrogryposis, mental retardation, and seizures" RELATED [MONDO:Lexical, OMIM:615553]
synonym: "arthrogryposis, mental retardation, and seizures; AMRS" RELATED [OMIM:615553]
synonym: "SLC35A3-CDG" EXACT [Orphanet:370943]
xref: ICD10:Q87.8 {source="ORDO:370943/attributed", source="ORDO:370943/ntbt", source="Orphanet:370943"}
xref: OMIM:615553 {source="MONDO:equivalentTo", source="ORDO:370943/e", source="Orphanet:370943"}
xref: Orphanet:370943 {source="OMIM:615553", source="MONDO:equivalentTo"}
xref: UMLS:C3809910 {source="OMIM:615553", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017740 {source="Orphanet:370943"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:370943"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:370943"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:370943"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0019942 {source="Orphanet:370943"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/omim/615553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809910
property_value: exactMatch Orphanet:370943

[Term]
id: MONDO:0014249
name: multiple fibroadenoma of the breast
def: "Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." [Orphanet:50920]
subset: ordo_disease {source="Orphanet:50920"}
synonym: "mammary polyadenomatosis" EXACT [Orphanet:50920]
synonym: "MFAB" RELATED [MONDO:Lexical, OMIM:615554]
synonym: "multiple fibroadenomas of the breast" RELATED [MONDO:Lexical, OMIM:615554]
synonym: "multiple fibroadenomas of the breast; MFAB" RELATED [OMIM:615554]
xref: ICD10:D24 {source="ORDO:50920/ntbt", source="Orphanet:50920"}
xref: OMIM:615554 {source="ORDO:50920/e", source="MONDO:equivalentTo", source="Orphanet:50920"}
xref: Orphanet:50920 {source="OMIM:615554", source="MONDO:equivalentTo"}
xref: UMLS:C3809918 {source="OMIM:615554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000620 {source="Orphanet:50920"} ! breast benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015869"} ! rare
property_value: exactMatch http://identifiers.org/omim/615554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809918
property_value: exactMatch Orphanet:50920

[Term]
id: MONDO:0014250
name: familial hyperprolactinemia
def: "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." [Orphanet:397685]
subset: ordo_disease {source="Orphanet:397685"}
synonym: "familial hyperprolactinemia" EXACT [Orphanet:397685]
synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:397685]
synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "HPRL" RELATED [MONDO:Lexical, OMIM:615555]
synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555]
synonym: "hyperprolactinemia; HPRL" RELATED [OMIM:615555]
xref: ICD10:E22.1 {source="MONDO:relatedTo", source="Orphanet:397685", source="ORDO:397685/attributed", source="ORDO:397685/ntbt"}
xref: OMIM:615555 {source="ORDO:397685/e", source="Orphanet:397685", source="MONDO:equivalentTo"}
xref: Orphanet:397685 {source="OMIM:615555", source="MONDO:equivalentTo"}
xref: SCTID:763715007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005804 ! hyperprolactinemia (disease)
is_a: MONDO:0015889 {source="Orphanet:397685"} ! rare hypothalamic or pituitary disease
is_a: MONDO:0015968 {source="Orphanet:397685"} ! rare genetic hypothalamic or pituitary disease
is_a: MONDO:0018405 {source="MONDO:Redundant", source="Orphanet:397685"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:397685"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0005804 ! hyperprolactinemia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/omim/615555
property_value: exactMatch http://identifiers.org/snomedct/763715007
property_value: exactMatch Orphanet:397685

[Term]
id: MONDO:0014251
name: melioidosis, susceptibility to
subset: predisposition
synonym: "melioidosis, resistance to" RELATED [OMIM:615557]
synonym: "melioidosis, susceptibility to" EXACT [OMIM:615557]
synonym: "susceptibility to melioidosis" RELATED [OMIM:615557]
xref: OMIM:615557 {source="MONDO:equivalentTo"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 {source="OMIM:615557"} ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0017775 {source="OMIM:615557"} ! melioidosis
relationship: predisposes_towards MONDO:0017775 {source="ORDO:31202-adjusted"} ! melioidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3715193
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3809925
property_value: exactMatch http://identifiers.org/omim/615557

[Term]
id: MONDO:0014252
name: familial hypobetalipoproteinemia 1
def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558]
synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial hypobetalipoproteinemia type 1" EXACT [DOID:0111062, MONDORULE:1]
synonym: "FHBL" RELATED [GARD:0002876]
synonym: "FHBL1" EXACT [DOID:0111062, MONDO:Lexical, OMIM:615558]
synonym: "hypobetalipoproteinemia caused by mutation in APOB" EXACT [MONDO:design_pattern]
synonym: "hypobetalipoproteinemia, familial" RELATED [OMIM:615558]
synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615558]
synonym: "hypobetalipoproteinemia, familial, 1; FHBL1" RELATED [OMIM:615558]
synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1, OMIM:615558]
synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [OMIM:615558]
xref: DOID:0111062 {source="MONDO:equivalentTo"}
xref: GARD:0002876 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C566267 {source="MONDO:equivalentTo"}
xref: OMIM:615558 {source="MONDO:equivalentTo", source="DOID:0111062"}
xref: SCTID:60193003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.31/0.27"}
xref: UMLS:CN182502 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MESH:C566267/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862596
property_value: closeMatch Orphanet:426
property_value: exactMatch DOID:0111062
property_value: exactMatch http://identifiers.org/mesh/C566267
property_value: exactMatch http://identifiers.org/omim/615558
property_value: exactMatch http://identifiers.org/snomedct/60193003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN182502

[Term]
id: MONDO:0014253
name: autoimmune lymphoproliferative syndrome type 3
def: "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577]
synonym: "ALPS-U" EXACT [NCIT:C39577]
synonym: "ALPS3" EXACT [DOID:0110119, MONDO:Lexical, OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in PRKCD" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [DOID:0110119]
synonym: "autoimmune lymphoproliferative syndrome, type 3" RELATED [OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome, type III" RELATED [MONDO:Lexical, OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome, type III; ALPS3" RELATED [OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome-undetermined variant" EXACT [NCIT:C39577]
synonym: "common variable immunodeficiency 9" EXACT [DOID:0110119]
synonym: "CVID9" EXACT [DOID:0110119]
synonym: "immunodeficiency, common variable, 9" RELATED [OMIM:615559]
synonym: "immunodeficiency, common variable, 9, formerly" RELATED [OMIM:615559]
synonym: "PRKCD autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 3 ALPS" EXACT [NCIT:C39577]
synonym: "type 3 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39577]
xref: DOID:0110119 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="DOID:0110119"}
xref: NCIT:C39577 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"}
xref: UMLS:C1519711 {source="NCIT:C39577", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:C3809928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615559"}
is_a: MONDO:0017979 {source="DC-OMIM:615559", source="DOID:0110119", source="MONDO:Redundant", source="MONDOLEX:0014253", source="NCIT:C39577"} ! autoimmune lymphoproliferative syndrome
property_value: exactMatch DOID:0110119
property_value: exactMatch http://identifiers.org/omim/615559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809928
property_value: exactMatch NCIT:C39577

[Term]
id: MONDO:0014254
name: otofaciocervical syndrome 2
def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." [MONDO:design_pattern]
synonym: "OFC2" RELATED [MONDO:Lexical, OMIM:615560]
synonym: "OTFCS2" RELATED [OMIM:615560]
synonym: "otofaciocervical syndrome 2" EXACT [MONDO:Lexical, OMIM:615560]
synonym: "otofaciocervical syndrome 2; OFC2" RELATED [OMIM:615560]
synonym: "otofaciocervical syndrome 2; OTFCS2" RELATED [OMIM:615560]
synonym: "otofaciocervical syndrome caused by mutation in PAX1" EXACT [MONDO:design_pattern]
synonym: "otofaciocervical syndrome type 2" EXACT [MONDORULE:1, OMIM:615560]
synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615560 {source="MONDO:equivalentTo"}
xref: UMLS:C3714942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615560"}
is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:615560", source="ORDO:2792/btnt"} ! otofaciocervical syndrome
property_value: exactMatch http://identifiers.org/omim/615560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714942

[Term]
id: MONDO:0014255
name: complement factor b deficiency
synonym: "CFBD" RELATED [MONDO:Lexical, OMIM:615561]
synonym: "complement factor b deficiency" EXACT [MONDO:Lexical, OMIM:615561]
synonym: "complement factor B deficiency; CFBD" RELATED [OMIM:615561]
xref: OMIM:615561 {source="MONDO:equivalentTo"}
xref: UMLS:C3809950 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615561"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809950

[Term]
id: MONDO:0014256
name: retinitis pigmentosa 67
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NEK2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 67" EXACT [MONDO:Lexical, OMIM:615565]
synonym: "retinitis pigmentosa 67; RP67" RELATED [OMIM:615565]
synonym: "retinitis pigmentosa caused by mutation in NEK2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 67" EXACT [DOID:0110359, MONDORULE:2, OMIM:615565]
synonym: "RP67" EXACT [DOID:0110359, MONDO:Lexical, OMIM:615565]
xref: DOID:0110359 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110359", source="MONDO:relatedTo"}
xref: OMIM:615565 {source="DOID:0110359", source="MONDO:equivalentTo"}
xref: UMLS:C3809954 {source="OMIM:615565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:615565", source="DOID:0110359", source="MONDO:Redundant", source="OMIM:615565"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110359
property_value: exactMatch http://identifiers.org/omim/615565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809954

[Term]
id: MONDO:0014257
name: nephrotic syndrome, type 9
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COQ8B nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in COQ8B" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 9" EXACT [MONDO:Lexical, OMIM:615573]
synonym: "nephrotic syndrome, type 9; NPHS9" RELATED [OMIM:615573]
synonym: "NPHS9" RELATED [MONDO:Lexical, OMIM:615573]
xref: OMIM:615573 {source="MONDO:equivalentTo"}
xref: UMLS:C3809965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615573"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/615573
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809965

[Term]
id: MONDO:0014258
name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
subset: ordo_disease {source="Orphanet:391376"}
synonym: "Asns deficiency" RELATED [OMIM:615574]
synonym: "ASNSD" RELATED [MONDO:Lexical, OMIM:615574]
synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376]
synonym: "asparagine synthetase deficiency; ASNSD" RELATED [OMIM:615574]
xref: ICD10:E72.8 {source="ORDO:391376/attributed", source="ORDO:391376/ntbt", source="Orphanet:391376"}
xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="ORDO:391376/e"}
xref: Orphanet:391376 {source="MONDO:equivalentTo", source="OMIM:615574"}
xref: UMLS:C3809971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615574"}
is_a: MONDO:0018318 {source="Orphanet:391376"} ! disorder of asparagine metabolism
is_a: MONDO:0019058 {source="Orphanet:391376"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/615574
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809971
property_value: exactMatch Orphanet:391376

[Term]
id: MONDO:0014259
name: neuronopathy, distal hereditary motor, type 2D
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FBXO38 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HMN 2D" RELATED [OMIM:615575]
synonym: "HMN2D" RELATED [MONDO:Lexical, OMIM:615575]
synonym: "neuronopathy, distal hereditary motor caused by mutation in FBXO38" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexical, OMIM:615575]
synonym: "neuronopathy, distal hereditary motor, type IID; HMN2D" RELATED [OMIM:615575]
synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [OMIM:615575]
synonym: "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" RELATED [OMIM:615575]
xref: OMIM:615575 {source="MONDO:equivalentTo"}
is_a: MONDO:0000075 {source="DC-OMIM:615575", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor
is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3711384
property_value: exactMatch http://identifiers.org/omim/615575

[Term]
id: MONDO:0014260
name: immunodeficiency, common variable, 10
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern]
synonym: "CVID10" RELATED [MONDO:Lexical, OMIM:615577]
synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577]
synonym: "immunodeficiency, common variable, 10" EXACT [MONDO:Lexical, OMIM:615577]
synonym: "immunodeficiency, common variable, 10; CVID10" RELATED [OMIM:615577]
synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:615577]
synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577]
synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615577 {source="MONDO:equivalentTo"}
xref: UMLS:C3809991 {source="OMIM:615577", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:615577", source="MONDO:Redundant", source="MONDOLEX:0014260", source="OMIM:615577"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809991

[Term]
id: MONDO:0014261
name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." [MONDO:design_pattern]
subset: ordo_disease {source="Orphanet:391348"}
synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578]
synonym: "combined oxidative phosphorylation deficiency 18; COXPD18" RELATED [OMIM:615578]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2, OMIM:615578]
synonym: "COXPD18" RELATED [MONDO:Lexical, OMIM:615578]
synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:E88.8 {source="ORDO:391348/attributed", source="ORDO:391348/ntbt", source="Orphanet:391348"}
xref: OMIM:615578 {source="MONDO:equivalentTo", source="ORDO:391348/e", source="Orphanet:391348"}
xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"}
xref: UMLS:C3810001 {source="OMIM:615578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:615578", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016799 {source="Orphanet:391348"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0019058 {source="Orphanet:391348"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/615578
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810001
property_value: exactMatch Orphanet:391348

[Term]
id: MONDO:0014262
name: Rienhoff syndrome
def: "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." [EFO:1000012]
subset: gard_rare {source="GARD:0012356"}
synonym: "LDS5" RELATED [MONDO:Lexical, OMIM:615582]
synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical, OMIM:615582]
synonym: "Loeys-Dietz syndrome 5; LDS5" RELATED [OMIM:615582]
synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1, OMIM:615582]
synonym: "Rienhoff syndrome" EXACT [OMIM:615582]
xref: DOID:0070236 {source="MONDO:equivalentTo"}
xref: EFO:1000012 {source="MONDO:equivalentTo"}
xref: GARD:0012356 {source="MONDO:equivalentTo"}
xref: OMIM:615582 {source="EFO:1000012", source="MONDO:equivalentTo"}
xref: UMLS:C3810012 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615582"}
is_a: MONDO:0018954 {source="EFO:1000012", source="MONDOLEX:0014262", source="OMIM:615582"} ! Loeys-Dietz syndrome
property_value: exactMatch DOID:0070236
property_value: exactMatch http://identifiers.org/omim/615582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810012
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome xsd:anyURI {source="GARD:0012356"}

[Term]
id: MONDO:0014263
name: 8q24.3 microdeletion syndrome
subset: ordo_malformation_syndrome
synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [OMIM:615583]
synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583]
synonym: "Verheij syndrome; VRJS" RELATED [OMIM:615583]
synonym: "VRJS" RELATED [MONDO:Lexical, OMIM:615583]
xref: GARD:0012814 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"}
xref: Orphanet:508488 {source="MONDO:equivalentTo"}
xref: UMLS:C3810023 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615583"}
is_a: MONDO:0015159 {source="Orphanet:508488"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:508488"} ! malformation syndrome with short stature
is_a: MONDO:0015506 {source="Orphanet:508488"} ! rare syndrome with cardiac malformations
is_a: MONDO:0016907 {source="Orphanet:508488"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0019721 {source="Orphanet:508488"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/615583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810023
property_value: exactMatch Orphanet:508488

[Term]
id: MONDO:0014264
name: OTSC10
synonym: "otosclerosis 10" RELATED [MONDO:Lexical, OMIM:615589]
synonym: "otosclerosis 10; OTSC10" RELATED [OMIM:615589]
synonym: "OTSC10" EXACT [MONDO:Lexical, OMIM:615589]
xref: OMIM:615589 {source="MONDO:equivalentTo"}
is_a: MONDO:0005349 {source="DC-OMIM:615589", source="OMIM:615589"} ! otosclerosis (disease)
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0037940 ! inherited auditory system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3148558
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888339
property_value: closeMatch Orphanet:2794
property_value: exactMatch http://identifiers.org/omim/615589

[Term]
id: MONDO:0014265
name: Alzheimer disease 18
def: "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AD18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590]
synonym: "ADAM10 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Alzheimer disease 18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590]
synonym: "Alzheimer disease 18, late-onset" RELATED [OMIM:615590]
synonym: "Alzheimer disease 18; AD18" RELATED [OMIM:615590]
synonym: "Alzheimer disease caused by mutation in ADAM10" EXACT [MONDO:design_pattern]
synonym: "Alzheimer disease type 18" EXACT [MONDORULE:2, OMIM:615590]
synonym: "Alzheimer's disease 18" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 18" EXACT [DOID:0110050, MONDORULE:2]
xref: DOID:0110050 {source="MONDO:equivalentTo"}
xref: OMIM:615590 {source="MONDO:equivalentTo", source="DOID:0110050"}
xref: UMLS:C3810041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615590"}
is_a: MONDO:0004975 {source="DC-OMIM:615590", source="DOID:0110050", source="MONDO:Redundant", source="MONDOLEX:0014265"} ! Alzheimer disease
property_value: exactMatch DOID:0110050
property_value: exactMatch http://identifiers.org/omim/615590
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810041

[Term]
id: MONDO:0014266
name: age related macular degeneration 15
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "age related macular degeneration type 15" EXACT [DOID:0110027, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in C9" EXACT [MONDO:design_pattern]
synonym: "ARMD15" EXACT [DOID:0110027, MONDO:Lexical, OMIM:615591]
synonym: "C9 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 15" RELATED [MONDO:Lexical, OMIM:615591]
synonym: "macular degeneration, age-related, 15; ARMD15" RELATED [OMIM:615591]
synonym: "macular Degeneration, age-related, type 15" EXACT [MONDORULE:2, OMIM:615591]
xref: DOID:0110027 {source="MONDO:equivalentTo"}
xref: OMIM:615591 {source="DOID:0110027", source="MONDO:equivalentTo"}
xref: UMLS:C3810042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615591"}
is_a: MONDO:0005150 {source="DC-OMIM:615591", source="DOID:0110027", source="MONDO:Redundant", source="OMIM:615591"} ! age-related macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch DOID:0110027
property_value: exactMatch http://identifiers.org/omim/615591
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810042

[Term]
id: MONDO:0014267
name: severe combined immunodeficiency due to IKK2 deficiency
def: "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." [Orphanet:397787]
subset: ordo_disease {source="Orphanet:397787"}
synonym: "IMD15" RELATED [MONDO:Lexical, OMIM:615592]
synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592]
synonym: "immunodeficiency 15; IMD15" RELATED [OMIM:615592]
synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592]
synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787]
xref: ICD10:D81.2 {source="ORDO:397787/attributed", source="ORDO:397787/ntbt", source="Orphanet:397787"}
xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="ORDO:397787/e"}
xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"}
xref: UMLS:C3810043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615592"}
is_a: MONDO:0044201 {source="Orphanet:397787"} ! T+ B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810043
property_value: exactMatch Orphanet:397787

[Term]
id: MONDO:0014268
name: combined immunodeficiency due to OX40 deficiency
def: "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." [Orphanet:431149]
subset: ordo_disease {source="Orphanet:431149"}
synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [Orphanet:431149]
synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [Orphanet:431149]
synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [Orphanet:431149]
synonym: "IMD16" RELATED [MONDO:Lexical, OMIM:615593]
synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593]
synonym: "immunodeficiency 16; IMD16" RELATED [OMIM:615593]
synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593]
synonym: "OX40 deficiency" RELATED [OMIM:615593]
xref: ICD10:D81.8 {source="ORDO:431149/attributed", source="ORDO:431149/ntbt", source="Orphanet:431149"}
xref: OMIM:615593 {source="ORDO:431149/e", source="MONDO:equivalentTo", source="Orphanet:431149"}
xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"}
xref: SCTID:766879006 {source="MONDO:equivalentTo"}
xref: UMLS:C3810053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615593"}
is_a: MONDO:0015356 {source="Orphanet:431149"} ! hereditary neoplastic syndrome
is_a: MONDO:0018814 {source="Orphanet:431149"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615593
property_value: exactMatch http://identifiers.org/snomedct/766879006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810053
property_value: exactMatch Orphanet:431149

[Term]
id: MONDO:0014269
name: combined oxidative phosphorylation deficiency 19
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595]
synonym: "combined oxidative phosphorylation deficiency 19; COXPD19" RELATED [OMIM:615595]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2, OMIM:615595]
synonym: "COXPD19" RELATED [MONDO:Lexical, OMIM:615595]
synonym: "LYRM4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615595 {source="MONDO:equivalentTo"}
xref: UMLS:C3810055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615595"}
is_a: MONDO:0000732 {source="DC-OMIM:615595", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018337 {source="ORDO:397593/btnt"} ! severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
property_value: exactMatch http://identifiers.org/omim/615595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810055

[Term]
id: MONDO:0014270
name: STT3A-CDG
def: "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." [Orphanet:370921]
subset: ordo_disease {source="Orphanet:370921"}
synonym: "CDG Iw" RELATED [OMIM:615596]
synonym: "CDG syndrome type Iw" EXACT [Orphanet:370921]
synonym: "CDG-Iw" EXACT [Orphanet:370921]
synonym: "CDG1W" EXACT [MONDO:Lexical, OMIM:615596, Orphanet:370921]
synonym: "congenital disorder of glycosylation type 1w" EXACT [Orphanet:370921]
synonym: "congenital disorder of glycosylation type Iw" EXACT [Orphanet:370921]
synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical, OMIM:615596]
synonym: "congenital disorder of glycosylation, type Iw; CDG1W" RELATED [OMIM:615596]
xref: ICD10:E77.8 {source="ORDO:370921/attributed", source="ORDO:370921/ntbt", source="Orphanet:370921"}
xref: OMIM:615596 {source="MONDO:equivalentTo", source="ORDO:370921/e", source="Orphanet:370921"}
xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"}
xref: SCTID:733111000 {source="MONDO:equivalentTo"}
xref: UMLS:C3810062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615596"}
is_a: MONDO:0005500 {source="DC-OMIM:615596", source="MONDOLEX:0014270"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:370921"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:370921"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:370921"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: exactMatch http://identifiers.org/omim/615596
property_value: exactMatch http://identifiers.org/snomedct/733111000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810062
property_value: exactMatch Orphanet:370921

[Term]
id: MONDO:0014271
name: STT3B-CDG
def: "(3p24.1)." [Orphanet:370924]
subset: ordo_disease {source="Orphanet:370924"}
synonym: "carbohydrate deficient glycoprotein syndrome type IX" EXACT [Orphanet:370924]
synonym: "CDG IX" RELATED [OMIM:615597]
synonym: "CDG syndrome type IX" EXACT [Orphanet:370924]
synonym: "CDG-Ix" EXACT [Orphanet:370924]
synonym: "CDG1X" EXACT [MONDO:Lexical, OMIM:615597, Orphanet:370924]
synonym: "congenital disorder of glycosylation type 1x" EXACT [Orphanet:370924]
synonym: "congenital disorder of glycosylation type IX" EXACT [Orphanet:370924]
synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, OMIM:615597]
synonym: "congenital disorder of glycosylation, type IX; CDG1X" RELATED [OMIM:615597]
xref: ICD10:E77.8 {source="Orphanet:370924", source="ORDO:370924/attributed", source="ORDO:370924/ntbt"}
xref: MESH:C535751 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615597 {source="Orphanet:370924", source="ORDO:370924/e", source="MONDO:equivalentTo"}
xref: Orphanet:370924 {source="OMIM:615597", source="MONDO:equivalentTo"}
xref: SCTID:733112007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931007 {source="Orphanet:370924", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:615597", source="MONDOLEX:0014271"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017740 {source="Orphanet:370924"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:370924"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:370924"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810067
property_value: exactMatch http://identifiers.org/mesh/C535751
property_value: exactMatch http://identifiers.org/omim/615597
property_value: exactMatch http://identifiers.org/snomedct/733112007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931007
property_value: exactMatch Orphanet:370924

[Term]
id: MONDO:0014272
name: palmoplantar keratoderma, Nagashima type
def: "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term)." [Orphanet:140966]
subset: ordo_disease {source="Orphanet:140966"}
synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966]
synonym: "palmoplantar keratoderma, Nagashima type" EXACT [MONDO:Lexical, OMIM:615598]
synonym: "palmoplantar keratoderma, Nagashima type; PPKN" RELATED [OMIM:615598]
synonym: "PPK, Nagashima type" EXACT [Orphanet:140966]
synonym: "PPKN" RELATED [MONDO:Lexical, OMIM:615598]
xref: ICD10:Q82.8 {source="ORDO:140966/attributed", source="ORDO:140966/ntbt", source="Orphanet:140966"}
xref: OMIM:615598 {source="MONDO:equivalentTo", source="ORDO:140966/e", source="Orphanet:140966"}
xref: Orphanet:140966 {source="OMIM:615598", source="MONDO:equivalentTo"}
xref: SCTID:722205008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.79"}
xref: UMLS:C3810072 {source="OMIM:615598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020096 {source="Orphanet:140966"} ! autosomal recessive isolated diffuse palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615598"} ! nonepidermolytic palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/omim/615598
property_value: exactMatch http://identifiers.org/snomedct/722205008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810072
property_value: exactMatch Orphanet:140966

[Term]
id: MONDO:0014273
name: microcephaly-thin corpus callosum-intellectual disability syndrome
def: "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." [Orphanet:397951]
subset: ordo_disease {source="Orphanet:397951"}
synonym: "mental retardation, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:615599]
synonym: "mental retardation, autosomal recessive 40; MRT40" RELATED [OMIM:615599]
synonym: "mental retardation, autosomal recessive type 40" EXACT [MONDORULE:2, OMIM:615599]
synonym: "MRT40" RELATED [MONDO:Lexical, OMIM:615599]
xref: ICD10:Q87.8 {source="ORDO:397951/attributed", source="ORDO:397951/ntbt", source="Orphanet:397951"}
xref: OMIM:615599 {source="ORDO:397951/e", source="MONDO:equivalentTo", source="Orphanet:397951"}
xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"}
xref: UMLS:C3810080 {source="OMIM:615599", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397951", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:397951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615599
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810080
property_value: exactMatch Orphanet:397951

[Term]
id: MONDO:0014274
name: L-ferritin deficiency
subset: ordo_biological_anomaly {source="Orphanet:440731"}
synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604]
synonym: "L-ferritin deficiency; LFTD" RELATED [OMIM:615604]
synonym: "LFTD" RELATED [MONDO:Lexical, OMIM:615604]
xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="ORDO:440731/e"}
xref: Orphanet:440731 {source="MONDO:equivalentTo"}
xref: UMLS:C3810090 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615604"}
is_a: MONDO:0005570 {source="Orphanet:440731"} ! hematologic disease
property_value: exactMatch http://identifiers.org/omim/615604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810090
property_value: exactMatch Orphanet:440731

[Term]
id: MONDO:0014275
name: Fanconi renotubular syndrome 3
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EHHADH Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi renotubular syndrome 3" EXACT [MONDO:Lexical, OMIM:615605]
synonym: "Fanconi renotubular syndrome 3; FRTS3" RELATED [OMIM:615605]
synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1, OMIM:615605]
synonym: "Fanconi syndrome caused by mutation in EHHADH" EXACT [MONDO:design_pattern]
synonym: "FRTS3" RELATED [MONDO:Lexical, OMIM:615605]
xref: OMIM:615605 {source="MONDO:equivalentTo"}
xref: UMLS:C3810100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615605"}
is_a: MONDO:0007600 {source="ORDO:3337/btnt"} ! primary Fanconi syndrome
property_value: exactMatch http://identifiers.org/omim/615605
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810100

[Term]
id: MONDO:0014276
name: combined immunodeficiency due to CD3gamma deficiency
def: "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." [Orphanet:169082]
comment: Editor note: check GARD
subset: gard_rare
subset: ordo_disease {source="Orphanet:169082"}
synonym: "CD3 deficiency" RELATED [GARD:0009521]
synonym: "CD3-gamma deficiency" RELATED [OMIM:615607]
synonym: "CD3gamma deficiency" EXACT [MONDO:0000578]
synonym: "IMD17" RELATED [MONDO:Lexical, OMIM:615607]
synonym: "immunodeficiency 17" RELATED [MONDO:Lexical, OMIM:615607]
synonym: "immunodeficiency 17; IMD17" RELATED [OMIM:615607]
synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607]
synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" RELATED [OMIM:615607]
xref: DOID:0060018 {source="MONDO:equivalentTo"}
xref: GARD:0009521 {source="MONDO:equivalentTo"}
xref: ICD10:D81.2 {source="ORDO:169082/attributed", source="ORDO:169082/ntbt", source="Orphanet:169082"}
xref: OMIM:615607 {source="MONDO:equivalentTo", source="ORDO:169082/e", source="Orphanet:169082"}
xref: Orphanet:169082 {source="MONDO:equivalentTo", source="OMIM:615607"}
xref: SCTID:725135004 {source="MONDO:equivalentTo"}
xref: UMLS:C3810107 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615607"}
xref: UMLS:C4510864 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:169082"} ! non-severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:0060018", source="https://github.com/monarch-initiative/mondo-build/issues/108"} ! severe combined immunodeficiency (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2025557
property_value: exactMatch DOID:0060018
property_value: exactMatch http://identifiers.org/omim/615607
property_value: exactMatch http://identifiers.org/snomedct/725135004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510864
property_value: exactMatch Orphanet:169082
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency xsd:anyURI {source="GARD:0009521"}

[Term]
id: MONDO:0014277
name: DDH2
synonym: "DDH2" EXACT [MONDO:Lexical, OMIM:615612]
synonym: "developmental dysplasia of the hip 2" RELATED [MONDO:Lexical, OMIM:615612]
synonym: "developmental dysplasia of the hip 2; DDH2" RELATED [OMIM:615612]
xref: OMIM:615612 {source="MONDO:equivalentTo"}
xref: UMLS:C3715079 {source="NCBI:mim2gene_medline", source="OMIM:615612", source="MONDO:equivalentTo"}
is_a: MONDO:0000158 {source="DC-OMIM:615612", source="OMIM:615612"} ! developmental dysplasia of the hip
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/615612
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715079

[Term]
id: MONDO:0014278
name: immunodeficiency 18
def: "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." [PMID:15546002]
synonym: "CD3-Epsilon deficiency" EXACT [OMIM:615615]
synonym: "IMD18" EXACT [MONDO:Lexical, OMIM:615615]
synonym: "immunodeficiency 18" EXACT [MONDO:Lexical, OMIM:615615]
synonym: "immunodeficiency 18, SCID variant" EXACT [OMIM:615615]
synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [OMIM:615615]
synonym: "immunodeficiency 18; IMD18" EXACT [OMIM:615615]
synonym: "immunodeficiency type 18" EXACT [MONDORULE:2, OMIM:615615]
xref: DOID:0060017 {source="MONDO:equivalentTo"}
xref: OMIM:615615 {source="MONDO:equivalentTo"}
xref: UMLS:C3810127 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615615"}
is_a: MONDO:0015703 {source="MONDO:cjm", source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810128
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810129
property_value: exactMatch DOID:0060017
property_value: exactMatch http://identifiers.org/omim/615615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810127

[Term]
id: MONDO:0014279
name: obsolete arrhythmogenic right ventricular dysplasia, familial, 13
is_obsolete: true
replaced_by: MONDO:0000908

[Term]
id: MONDO:0014280
name: immunodeficiency 19
def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CD3-Delta deficiency" RELATED [OMIM:615617]
synonym: "CD3D" EXACT [DOID:0060016]
synonym: "CD3D severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CD3delta deficiency" EXACT [MONDO:0000576]
synonym: "IMD19" RELATED [MONDO:Lexical, OMIM:615617]
synonym: "immunodeficiency 19" EXACT [MONDO:Lexical, OMIM:615617]
synonym: "immunodeficiency 19; IMD19" RELATED [OMIM:615617]
synonym: "immunodeficiency type 19" EXACT [MONDORULE:2, OMIM:615617]
synonym: "SCID, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617]
synonym: "severe combined immunodeficiency (disease) caused by mutation in CD3D" EXACT []
synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617]
xref: DOID:0060016 {source="MONDO:equivalentTo"}
xref: OMIM:615617 {source="MONDO:equivalentTo"}
xref: UMLS:C3810147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615617"}
is_a: MONDO:0015703 {source="MONDO:cjm", source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
property_value: exactMatch DOID:0060016
property_value: exactMatch http://identifiers.org/omim/615617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810147

[Term]
id: MONDO:0014281
name: cholangiocarcinoma, susceptibility to
subset: predisposition
synonym: "Chlc, susceptibility to" RELATED [OMIM:615619]
synonym: "cholangiocarcinoma, susceptibility to" EXACT [OMIM:615619]
xref: OMIM:615619 {source="MONDO:equivalentTo"}
is_a: MONDO:0019087 {source="ORDO:70567/btnt"} ! cholangiocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810156
property_value: exactMatch http://identifiers.org/omim/615619

[Term]
id: MONDO:0014282
name: hereditary spastic paraplegia 72
def: "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance
subset: ordo_disease {source="Orphanet:401849"}
subset: ordo_inheritance_inconsistent
synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817]
synonym: "hereditary spastic paraplegia type 72" EXACT [DOID:0110817, MONDORULE:2]
synonym: "pure hereditary spastic paraplegia caused by mutation in REEP2" EXACT [MONDO:design_pattern]
synonym: "REEP2 pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625]
synonym: "spastic paraplegia 72, autosomal recessive" RELATED [OMIM:615625]
synonym: "spastic paraplegia 72, autosomal recessive; SPG72" NARROW [OMIM:615625]
synonym: "SPG72" EXACT [DOID:0110817, OMIM:615625, Orphanet:401849]
xref: DOID:0110817 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401849/attributed", source="ORDO:401849/ntbt", source="DOID:0110817", source="Orphanet:401849"}
xref: OMIM:615625 {source="MONDO:equivalentTo", source="DOID:0110817", source="ORDO:401849/e", source="Orphanet:401849"}
xref: Orphanet:401849 {source="MONDO:equivalentTo", source="OMIM:615625", source="DOID:0110817"}
xref: UMLS:C3810160 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615625"}
is_a: MONDO:0015149 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:401849/inferred"} ! pure hereditary spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810161
property_value: exactMatch DOID:0110817
property_value: exactMatch http://identifiers.org/omim/615625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810160
property_value: exactMatch Orphanet:401849

[Term]
id: MONDO:0014283
name: autosomal dominant nonsyndromic deafness 56
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 56" EXACT [DOID:0110581]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 56" EXACT [DOID:0110581, MONDORULE:2]
synonym: "deafness, autosomal dominant 56" RELATED [MONDO:Lexical, OMIM:615629]
synonym: "deafness, autosomal dominant 56; DFNA56" RELATED [OMIM:615629]
synonym: "deafness, autosomal dominant type 56" EXACT [MONDORULE:2, OMIM:615629]
synonym: "DFNA56" EXACT [DOID:0110581, MONDO:Lexical, OMIM:615629]
synonym: "TNC autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110581 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110581"}
xref: OMIM:615629 {source="MONDO:equivalentTo", source="DOID:0110581"}
xref: UMLS:C3810170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615629"}
is_a: MONDO:0019587 {source="DC-OMIM:615629", source="DOID:0110581", source="MONDO:Redundant", source="OMIM:615629"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110581
property_value: exactMatch http://identifiers.org/omim/615629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810170

[Term]
id: MONDO:0014284
name: short-rib thoracic dysplasia 10 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." [DOID:0110091, PMID:24140113]
synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615630]
synonym: "short-rib thoracic dysplasia 10 with or without polydactyly; SRTD10" RELATED [OMIM:615630]
synonym: "SRTD10" EXACT [DOID:0110091, MONDO:Lexical, OMIM:615630]
xref: DOID:0110091 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110091"}
xref: ICD10:Q87.5 {source="DOID:0110091"}
xref: OMIM:615630 {source="DOID:0110091", source="MONDO:equivalentTo"}
xref: UMLS:C3810175 {source="OMIM:615630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110091", source="OMIM:615630"} ! Jeune syndrome
property_value: exactMatch DOID:0110091
property_value: exactMatch http://identifiers.org/omim/615630
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810175

[Term]
id: MONDO:0014285
name: congenital dyserythropoietic anemia type type 1B
synonym: "anemia, congenital dyserythropoietic, type IB" EXACT [MONDO:Lexical, OMIM:615631]
synonym: "anemia, congenital dyserythropoietic, type IB; CDAN1B" RELATED [OMIM:615631]
synonym: "CDA, type IB" RELATED [OMIM:615631]
synonym: "CDAN1B" RELATED [MONDO:Lexical, OMIM:615631]
xref: OMIM:615631 {source="MONDO:equivalentTo"}
xref: UMLS:C3810185 {source="OMIM:615631", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020337 {source="ORDO:98869/btnt"} ! congenital dyserythropoietic anemia type 1
property_value: exactMatch http://identifiers.org/omim/615631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810185

[Term]
id: MONDO:0014286
name: neuropathy, hereditary sensory, type 1F
def: "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154]
synonym: "hereditary sensory neuropathy type IF" EXACT [DOID:0070154]
synonym: "HSN 1F" RELATED [OMIM:615632]
synonym: "HSN1F" EXACT [DOID:0070154, MONDO:Lexical, OMIM:615632]
synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical, OMIM:615632]
synonym: "neuropathy, hereditary sensory, type IF; HSN1F" RELATED [OMIM:615632]
xref: DOID:0070154 {source="MONDO:equivalentTo"}
xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"}
xref: UMLS:C3810194 {source="OMIM:615632", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
property_value: exactMatch DOID:0070154
property_value: exactMatch http://identifiers.org/omim/615632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810194

[Term]
id: MONDO:0014287
name: short-rib thoracic dysplasia 11 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." [DOID:0110095, PMID:24183449]
synonym: "short-rib thoracic dysplasia 11 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615633]
synonym: "short-rib thoracic dysplasia 11 with or without polydactyly; SRTD11" RELATED [OMIM:615633]
synonym: "SRTD11" EXACT [DOID:0110095, MONDO:Lexical, OMIM:615633]
xref: DOID:0110095 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110095"}
xref: OMIM:615633 {source="DOID:0110095", source="MONDO:equivalentTo"}
xref: UMLS:C3810200 {source="OMIM:615633", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110095", source="OMIM:615633"} ! Jeune syndrome
is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
property_value: exactMatch DOID:0110095
property_value: exactMatch http://identifiers.org/omim/615633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810200

[Term]
id: MONDO:0014288
name: Joubert syndrome 21
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CSPP1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS21" EXACT [DOID:0110990, MONDO:Lexical, OMIM:615636]
synonym: "Joubert syndrome 21" EXACT [MONDO:Lexical, OMIM:615636]
synonym: "Joubert syndrome 21; JBTS21" RELATED [OMIM:615636]
synonym: "Joubert syndrome caused by mutation in CSPP1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 21" EXACT [DOID:0110990, MONDORULE:2, OMIM:615636]
xref: DOID:0110990 {source="MONDO:equivalentTo"}
xref: OMIM:615636 {source="MONDO:equivalentTo", source="DOID:0110990"}
xref: UMLS:C3810212 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615636"}
is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a: MONDO:0018772 {source="DC-OMIM:615636", source="DOID:0110990", source="MONDO:Redundant", source="OMIM:615636"} ! Joubert syndrome
property_value: exactMatch DOID:0110990
property_value: exactMatch http://identifiers.org/omim/615636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810212

[Term]
id: MONDO:0014289
name: macrocephaly-developmental delay syndrome
def: "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." [Orphanet:397612]
subset: ordo_malformation_syndrome {source="Orphanet:397612"}
synonym: "mental retardation, autosomal recessive 41" RELATED [MONDO:Lexical, OMIM:615637]
synonym: "mental retardation, autosomal recessive 41; MRT41" RELATED [OMIM:615637]
synonym: "mental retardation, autosomal recessive type 41" EXACT [MONDORULE:2, OMIM:615637]
synonym: "MRT41" RELATED [MONDO:Lexical, OMIM:615637]
xref: ICD10:Q75.3 {source="ORDO:397612/attributed", source="ORDO:397612/ntbt", source="Orphanet:397612"}
xref: OMIM:615637 {source="MONDO:equivalentTo", source="ORDO:397612/e", source="Orphanet:397612"}
xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"}
xref: UMLS:C3810225 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615637"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397612", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:397612"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810225
property_value: exactMatch Orphanet:397612

[Term]
id: MONDO:0014290
name: neurodegeneration with brain iron accumulation 6
def: "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." [Orphanet:397725]
subset: ordo_disease {source="Orphanet:397725"}
synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725]
synonym: "CoPAN" EXACT [DOID:0110740, Orphanet:397725]
synonym: "NBIA6" EXACT [DOID:0110740, MONDO:Lexical, OMIM:615643, Orphanet:397725]
synonym: "neurodegeneration with brain iron accumulation 6" EXACT [MONDO:Lexical, OMIM:615643]
synonym: "neurodegeneration with brain iron accumulation 6; NBIA6" RELATED [OMIM:615643]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in COASY" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725]
synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643]
xref: DOID:0110740 {source="MONDO:equivalentTo"}
xref: GARD:0012571 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G23.0 {source="ORDO:397725/attributed", source="ORDO:397725/ntbt", source="Orphanet:397725", source="DOID:0110740"}
xref: OMIM:615643 {source="MONDO:equivalentTo", source="Orphanet:397725", source="ORDO:397725/e", source="DOID:0110740"}
xref: Orphanet:397725 {source="OMIM:615643", source="MONDO:equivalentTo", source="DOID:0110740"}
xref: SCTID:732264002 {source="MONDO:equivalentTo"}
xref: UMLS:C3810230 {source="OMIM:615643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018307 {source="DC-OMIM:615643", source="DOID:0110740", source="MONDO:Redundant", source="OMIM:615643", source="Orphanet:397725"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch DOID:0110740
property_value: exactMatch http://identifiers.org/omim/615643
property_value: exactMatch http://identifiers.org/snomedct/732264002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810230
property_value: exactMatch Orphanet:397725

[Term]
id: MONDO:0014291
name: autosomal dominant nonsyndromic deafness 54
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31." [DOID:0110580, PMID:15490091]
synonym: "autosomal dominant deafness 54" EXACT [DOID:0110580]
synonym: "autosomal dominant nonsyndromic deafness type 54" EXACT [DOID:0110580, MONDORULE:2]
synonym: "deafness, autosomal dominant 54" RELATED [MONDO:Lexical, OMIM:615649]
synonym: "deafness, autosomal dominant 54; DFNA54" RELATED [OMIM:615649]
synonym: "DFNA54" EXACT [DOID:0110580, MONDO:Lexical, OMIM:615649]
xref: DOID:0110580 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110580"}
xref: OMIM:615649 {source="MONDO:equivalentTo", source="DOID:0110580"}
is_a: MONDO:0019587 {source="DC-OMIM:615649", source="DOID:0110580", source="OMIM:615649"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1539274
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888029
property_value: exactMatch DOID:0110580
property_value: exactMatch http://identifiers.org/omim/615649

[Term]
id: MONDO:0014292
name: leukoencephalopathy with mild cerebellar ataxia and white matter edema
subset: ordo_disease {source="Orphanet:363540"}
synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651]
synonym: "leukoencephalopathy with ataxia; LKPAT" RELATED [OMIM:615651]
synonym: "LKPAT" RELATED [MONDO:Lexical, OMIM:615651]
xref: ICD10:E75.2 {source="Orphanet:363540", source="ORDO:363540/attributed", source="ORDO:363540/ntbt"}
xref: OMIM:615651 {source="Orphanet:363540", source="ORDO:363540/e", source="MONDO:equivalentTo"}
xref: Orphanet:363540 {source="MONDO:equivalentTo", source="OMIM:615651"}
xref: SCTID:768663003 {source="MONDO:equivalentTo"}
xref: UMLS:C3810242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615651"}
is_a: MONDO:0019046 {source="Orphanet:363540"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/615651
property_value: exactMatch http://identifiers.org/snomedct/768663003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810242
property_value: exactMatch Orphanet:363540

[Term]
id: MONDO:0014293
name: autosomal dominant nonsyndromic deafness 58
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12." [DOID:0110582, PMID:19159392]
synonym: "autosomal dominant deafness 58" EXACT [DOID:0110582]
synonym: "autosomal dominant nonsyndromic deafness type 58" EXACT [DOID:0110582, MONDORULE:2]
synonym: "deafness, autosomal dominant 58" RELATED [MONDO:Lexical, OMIM:615654]
synonym: "deafness, autosomal dominant 58; DFNA58" RELATED [OMIM:615654]
synonym: "DFNA58" EXACT [DOID:0110582, MONDO:Lexical, OMIM:615654]
xref: DOID:0110582 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110582"}
xref: OMIM:615654 {source="MONDO:equivalentTo", source="DOID:0110582"}
is_a: MONDO:0019587 {source="DC-OMIM:615654", source="DOID:0110582", source="OMIM:615654"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2681408
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888210
property_value: exactMatch DOID:0110582
property_value: exactMatch http://identifiers.org/omim/615654

[Term]
id: MONDO:0014294
name: chromosome 15q11.2 deletion syndrome
def: "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." [Orphanet:261183]
subset: ordo_malformation_syndrome {source="Orphanet:261183"}
synonym: "15q11.2 BP1-BP2 microdeletion syndrome" EXACT [Orphanet:261183]
synonym: "15q11.2 microdeletion" RELATED [GARD:0010525]
synonym: "15q11.2 microdeletion syndrome" EXACT [DOID:0060393]
synonym: "chromosome 15q11.2 deletion" RELATED [GARD:0010525]
synonym: "chromosome 15q11.2 deletion syndrome" EXACT [OMIM:615656]
synonym: "chromosome 15q11.2 microdeletion" RELATED [GARD:0010525]
synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183]
synonym: "monosomy 15q11.2" EXACT [Orphanet:261183]
xref: DOID:0060393 {source="MONDO:equivalentTo"}
xref: GARD:0010525 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q93.5 {source="Orphanet:261183", source="ORDO:261183/attributed", source="ORDO:261183/ntbt"}
xref: OMIM:615656 {source="Orphanet:261183", source="ORDO:261183/e", source="MONDO:equivalentTo", source="DOID:0060393"}
xref: Orphanet:261183 {source="OMIM:615656", source="MONDO:equivalentTo", source="DOID:0060393"}
xref: UMLS:C3180937 {source="Orphanet:261183", source="ORDO:261183/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0060393"}
is_a: MONDO:0000761 {source="DC-OMIM:615656", source="DOID:0060393"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:261183"} ! partial deletion of the long arm of chromosome 15
property_value: closeMatch http://identifiers.org/mesh/C557830
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3810258
property_value: exactMatch DOID:0060393
property_value: exactMatch http://identifiers.org/omim/615656
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3180937
property_value: exactMatch Orphanet:261183

[Term]
id: MONDO:0014295
name: hereditary spastic paraplegia 57
def: "gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." [Orphanet:431329]
subset: ordo_disease {source="Orphanet:431329"}
synonym: "autosomal recessive spastic paraplegia 57" EXACT [DOID:0110809]
synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809]
synonym: "hereditary spastic paraplegia caused by mutation in TFG" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 57" EXACT [DOID:0110809, MONDORULE:2]
synonym: "spastic paraplegia 57, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615658]
synonym: "spastic paraplegia 57, autosomal recessive; SPG57" RELATED [OMIM:615658]
synonym: "spastic paraplegia due to partial TFG deficiency" EXACT [Orphanet:431329]
synonym: "SPG57" EXACT [DOID:0110809, MONDO:Lexical, OMIM:615658, Orphanet:431329]
synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110809 {source="MONDO:equivalentTo"}
xref: EFO:0009017 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:431329/attributed", source="ORDO:431329/ntbt", source="Orphanet:431329", source="DOID:0110809"}
xref: OMIM:615658 {source="MONDO:equivalentTo", source="ORDO:431329/e", source="Orphanet:431329", source="DOID:0110809"}
xref: Orphanet:431329 {source="MONDO:equivalentTo", source="OMIM:615658", source="DOID:0110809"}
xref: SCTID:723826007 {source="MONDO:equivalentTo"}
xref: UMLS:C3714897 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615658"}
xref: UMLS:C4510084 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018550 {source="Orphanet:431329"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
property_value: exactMatch DOID:0110809
property_value: exactMatch http://identifiers.org/omim/615658
property_value: exactMatch http://identifiers.org/snomedct/723826007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510084
property_value: exactMatch Orphanet:431329

[Term]
id: MONDO:0014296
name: Warburg micro syndrome 4
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "micro syndrome 4" EXACT [DOID:0110719]
synonym: "TBC1D20 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM4" EXACT [DOID:0110719, MONDO:Lexical, OMIM:615663]
synonym: "Warburg micro syndrome 4" EXACT [MONDO:Lexical, OMIM:615663]
synonym: "WARBURG micro syndrome 4; WARBM4" RELATED [OMIM:615663]
synonym: "Warburg micro syndrome caused by mutation in TBC1D20" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 4" EXACT [DOID:0110719, MONDORULE:1, OMIM:615663]
xref: DOID:0110719 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="DOID:0110719"}
xref: OMIM:615663 {source="MONDO:equivalentTo", source="DOID:0110719"}
xref: UMLS:C3810265 {source="OMIM:615663", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016649 {source="DC-OMIM:615663", source="DOID:0110719", source="MONDO:Redundant", source="OMIM:615663"} ! Warburg micro syndrome
property_value: exactMatch DOID:0110719
property_value: exactMatch http://identifiers.org/omim/615663
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810265

[Term]
id: MONDO:0014297
name: Joubert syndrome 22
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS22" EXACT [DOID:0110991, MONDO:Lexical, OMIM:615665]
synonym: "Joubert syndrome 22" EXACT [MONDO:Lexical, OMIM:615665]
synonym: "Joubert syndrome 22; JBTS22" RELATED [OMIM:615665]
synonym: "Joubert syndrome caused by mutation in PDE6D" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 22" EXACT [DOID:0110991, MONDORULE:2, OMIM:615665]
synonym: "PDE6D Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110991 {source="MONDO:equivalentTo"}
xref: OMIM:615665 {source="MONDO:equivalentTo", source="DOID:0110991"}
xref: UMLS:C3810278 {source="OMIM:615665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0110991", source="MONDO:Redundant", source="OMIM:615665", source="indirect"} ! Joubert syndrome
property_value: exactMatch DOID:0110991
property_value: exactMatch http://identifiers.org/omim/615665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810278

[Term]
id: MONDO:0014298
name: chromosome 5q12 deletion syndrome
def: "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." [Orphanet:439822]
subset: ordo_malformation_syndrome {source="Orphanet:439822"}
synonym: "chromosome 5q12 deletion syndrome" EXACT [OMIM:615668]
synonym: "PDE4D haploinsufficiency syndrome" RELATED [Orphanet:439822]
xref: DOID:0060421 {source="MONDO:equivalentTo"}
xref: OMIM:615668 {source="Orphanet:439822", source="DOID:0060421", source="MONDO:equivalentTo", source="ORDO:439822/nd"}
xref: Orphanet:439822 {source="MONDO:equivalentTo"}
xref: UMLS:C3810282 {source="OMIM:615668", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:439822", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:615668", source="DOID:0060421"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:439822"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060421
property_value: exactMatch http://identifiers.org/omim/615668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810282
property_value: exactMatch Orphanet:439822

[Term]
id: MONDO:0014299
name: schwannomatosis 2
synonym: "schwannomatosis 2" EXACT [MONDO:Lexical, OMIM:615670]
synonym: "SCHWANNOMATOSIS 2; SWNTS2" RELATED [OMIM:615670]
synonym: "Schwannomatosis type 2" EXACT [MONDORULE:1, OMIM:615670]
synonym: "SWNTS2" RELATED [MONDO:Lexical, OMIM:615670]
xref: OMIM:615670 {source="MONDO:equivalentTo"}
xref: UMLS:C3810283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615670"}
is_a: MONDO:0008075 {source="MONDOLEX:0014299", source="OMIM:615670", source="ORDO:93921/btnt"} ! neurofibromatosis type 3
property_value: exactMatch http://identifiers.org/omim/615670
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810283

[Term]
id: MONDO:0014300
name: proximal myopathy with extrapyramidal signs
def: "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." [Orphanet:401768]
subset: ordo_disease {source="Orphanet:401768"}
synonym: "MPXPS" RELATED [MONDO:Lexical, OMIM:615673]
synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673]
synonym: "myopathy with extrapyramidal signs; MPXPS" RELATED [OMIM:615673]
xref: GARD:0012978 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.3 {source="ORDO:401768/attributed", source="ORDO:401768/ntbt", source="Orphanet:401768"}
xref: OMIM:615673 {source="ORDO:401768/e", source="MONDO:equivalentTo", source="Orphanet:401768"}
xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"}
xref: UMLS:C3810285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615673"}
is_a: MONDO:0016110 {source="Orphanet:401768"} ! non-dystrophic myopathy
is_a: MONDO:0017662 {source="Orphanet:401768"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
property_value: exactMatch http://identifiers.org/omim/615673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810285
property_value: exactMatch Orphanet:401768

[Term]
id: MONDO:0014301
name: DDD3
synonym: "DDD3" EXACT [MONDO:Lexical, OMIM:615674]
synonym: "Dowling-Degos disease 3" RELATED [MONDO:Lexical, OMIM:615674]
synonym: "Dowling-Degos disease 3; DDD3" RELATED [OMIM:615674]
xref: OMIM:615674 {source="MONDO:equivalentTo"}
xref: UMLS:C3810286 {source="OMIM:615674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008371 {source="ORDO:79145/btnt"} ! Dowling-Degos disease
property_value: exactMatch http://identifiers.org/omim/615674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810286

[Term]
id: MONDO:0014302
name: hereditary spastic paraplegia 62
def: "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." [Orphanet:401785]
subset: ordo_disease {source="Orphanet:401785"}
synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813]
synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813]
synonym: "ERLIN1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE:2]
synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681]
synonym: "spastic paraplegia 62, autosomal recessive; SPG62" RELATED [OMIM:615681]
synonym: "SPG62" EXACT [DOID:0110813, OMIM:615681, Orphanet:401785]
xref: DOID:0110813 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401785", source="DOID:0110813", source="ORDO:401785/attributed", source="ORDO:401785/ntbt"}
xref: OMIM:615681 {source="Orphanet:401785", source="ORDO:401785/e", source="DOID:0110813", source="MONDO:equivalentTo"}
xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"}
xref: SCTID:765045003 {source="MONDO:equivalentTo"}
xref: UMLS:C4284588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015090 {source="MONDO:Redundant", source="Orphanet:401785"} ! autosomal recessive pure spastic paraplegia
property_value: exactMatch DOID:0110813
property_value: exactMatch http://identifiers.org/omim/615681
property_value: exactMatch http://identifiers.org/snomedct/765045003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284588
property_value: exactMatch Orphanet:401785

[Term]
id: MONDO:0014303
name: hereditary spastic paraplegia 64
def: "gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." [Orphanet:401810]
subset: ordo_disease {source="Orphanet:401810"}
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815]
synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815]
synonym: "ENTPD1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE:2]
synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683]
synonym: "spastic paraplegia 64, autosomal recessive; SPG64" RELATED [OMIM:615683]
synonym: "SPG64" EXACT [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810]
xref: DOID:0110815 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401810", source="DOID:0110815", source="ORDO:401810/attributed", source="ORDO:401810/ntbt"}
xref: OMIM:615683 {source="ORDO:401810/e", source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo"}
xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", source="OMIM:615683"}
xref: SCTID:726609005 {source="MONDO:equivalentTo"}
xref: UMLS:C3810289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615683"}
xref: UMLS:C4511960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401810"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110815
property_value: exactMatch http://identifiers.org/omim/615683
property_value: exactMatch http://identifiers.org/snomedct/726609005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511960
property_value: exactMatch Orphanet:401810

[Term]
id: MONDO:0014304
name: hereditary spastic paraplegia 61
def: "gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." [Orphanet:401780]
subset: ordo_disease {source="Orphanet:401780"}
synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 61" EXACT [DOID:0110812]
synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812]
synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE:2]
synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685]
synonym: "spastic paraplegia 61, autosomal recessive; SPG61" RELATED [OMIM:615685]
synonym: "SPG61" EXACT [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780]
xref: DOID:0110812 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401780/attributed", source="ORDO:401780/ntbt", source="DOID:0110812", source="Orphanet:401780"}
xref: OMIM:615685 {source="DOID:0110812", source="MONDO:equivalentTo", source="ORDO:401780/e", source="Orphanet:401780"}
xref: Orphanet:401780 {source="OMIM:615685", source="DOID:0110812", source="MONDO:equivalentTo"}
xref: SCTID:726611001 {source="MONDO:equivalentTo"}
xref: UMLS:C3810294 {source="OMIM:615685", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4511962 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401780"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110812
property_value: exactMatch http://identifiers.org/omim/615685
property_value: exactMatch http://identifiers.org/snomedct/726611001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511962
property_value: exactMatch Orphanet:401780

[Term]
id: MONDO:0014305
name: hereditary spastic paraplegia 63
def: "gene (1p13.3) encoding AMP deaminase 2." [Orphanet:401805]
subset: ordo_disease {source="Orphanet:401805"}
synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 63" EXACT [DOID:0110814]
synonym: "autosomal recessive spastic paraplegia type 63" RELATED [Orphanet:401805]
synonym: "hereditary spastic paraplegia type 63" EXACT [DOID:0110814, MONDORULE:2]
synonym: "spastic paraplegia 63" EXACT [DOID:0110814]
synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686]
synonym: "spastic paraplegia 63, autosomal recessive; SPG63" RELATED [OMIM:615686]
synonym: "SPG63" EXACT [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805]
xref: DOID:0110814 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401805/attributed", source="ORDO:401805/ntbt", source="DOID:0110814", source="Orphanet:401805"}
xref: OMIM:615686 {source="MONDO:equivalentTo", source="DOID:0110814", source="ORDO:401805/e", source="Orphanet:401805"}
xref: Orphanet:401805 {source="OMIM:615686", source="MONDO:equivalentTo", source="DOID:0110814"}
xref: SCTID:726610000 {source="MONDO:equivalentTo"}
xref: UMLS:C3810295 {source="OMIM:615686", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:401805"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110814
property_value: exactMatch http://identifiers.org/omim/615686
property_value: exactMatch http://identifiers.org/snomedct/726610000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810295
property_value: exactMatch Orphanet:401805

[Term]
id: MONDO:0014306
name: vasculitis due to ADA2 deficiency
def: "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." [Orphanet:404553]
subset: ordo_disease {source="Orphanet:404553"}
synonym: "Ada2 deficiency" RELATED [OMIM:615688]
synonym: "adenosine deaminase 2 deficiency" RELATED [GARD:0012383]
synonym: "childhood-onset polyarteritis nodosa" RELATED [GARD:0012383]
synonym: "DADA2" RELATED [GARD:0012383]
synonym: "PAN" RELATED [MONDO:Lexical, OMIM:615688]
synonym: "polyarteritis nodosa, childhood-onset" RELATED [MONDO:Lexical, OMIM:615688]
synonym: "polyarteritis nodosa, childhood-onset; PAN" RELATED [OMIM:615688]
synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553]
xref: GARD:0012383 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M30.8 {source="Orphanet:404553", source="ORDO:404553/attributed", source="ORDO:404553/ntbt"}
xref: OMIM:615688 {source="MONDO:equivalentTo", source="Orphanet:404553", source="ORDO:404553/e"}
xref: Orphanet:404553 {source="OMIM:615688", source="MONDO:equivalentTo"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015489 {source="Orphanet:404553"} ! predominantly medium-vessel vasculitis
is_a: MONDO:0015710 {source="Orphanet:404553"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0018782 {source="Orphanet:404553"} ! type 1 interferonopathy
property_value: exactMatch http://identifiers.org/omim/615688
property_value: exactMatch Orphanet:404553

[Term]
id: MONDO:0014307
name: Dowling-Degos disease 4
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DDD4" RELATED [MONDO:Lexical, OMIM:615696]
synonym: "Dowling-Degos disease 4" EXACT [MONDO:Lexical, OMIM:615696]
synonym: "Dowling-Degos disease 4; DDD4" RELATED [OMIM:615696]
synonym: "Dowling-Degos disease caused by mutation in POGLUT1" EXACT [MONDO:design_pattern]
synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1, OMIM:615696]
synonym: "POGLUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615696 {source="MONDO:equivalentTo"}
xref: UMLS:C3810313 {source="OMIM:615696", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008371 {source="MONDO:Redundant", source="ORDO:79145/btnt"} ! Dowling-Degos disease
property_value: exactMatch http://identifiers.org/omim/615696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810313

[Term]
id: MONDO:0014308
name: familial temporal lobe epilepsy 6
def: "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26." [DOID:0060749, PMID:24021842]
comment: Editor note: TODO
synonym: "epilepsy, familial temporal lobe, 6" RELATED [MONDO:Lexical, OMIM:615697]
synonym: "epilepsy, familial temporal lobe, 6; ETL6" RELATED [OMIM:615697]
synonym: "ETL6" EXACT [DOID:0060749, MONDO:Lexical, OMIM:615697]
synonym: "familial temporal lobe epilepsy type 6" EXACT [DOID:0060749, MONDORULE:1]
xref: DOID:0060749 {source="MONDO:equivalentTo"}
xref: OMIM:615697 {source="MONDO:equivalentTo", source="DOID:0060749"}
xref: UMLS:C3810320 {source="OMIM:615697", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy
property_value: exactMatch DOID:0060749
property_value: exactMatch http://identifiers.org/omim/615697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810320

[Term]
id: MONDO:0014309
name: obesity due to CEP19 deficiency
subset: ordo_disease {source="Orphanet:397615"}
synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703]
synonym: "morbid obesity and spermatogenic failure; MOSPGF" RELATED [OMIM:615703]
synonym: "MOSPGF" RELATED [MONDO:Lexical, OMIM:615703]
xref: ICD10:E66.8 {source="ORDO:397615/attributed", source="ORDO:397615/ntbt", source="Orphanet:397615"}
xref: OMIM:615703 {source="MONDO:equivalentTo", source="Orphanet:397615", source="ORDO:397615/e"}
xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"}
xref: UMLS:C3810324 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615703"}
is_a: MONDO:0020075 {source="Orphanet:397615"} ! genetic non-syndromic obesity
property_value: exactMatch http://identifiers.org/omim/615703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810324
property_value: exactMatch Orphanet:397615

[Term]
id: MONDO:0014310
name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement
def: "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." [Orphanet:221043]
subset: ordo_disease {source="Orphanet:221043"}
synonym: "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [GARD:0013218]
synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [Orphanet:221043]
synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [MONDO:Lexical, OMIM:615704]
synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; POIKTMP" RELATED [OMIM:615704]
synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [OMIM:615704]
synonym: "POIKTMP" RELATED [MONDO:Lexical, OMIM:615704]
synonym: "POIKTMP syndrome" EXACT [Orphanet:221043]
xref: GARD:0013218 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q82.8 {source="Orphanet:221043", source="ORDO:221043/attributed", source="ORDO:221043/ntbt"}
xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="ORDO:221043/e"}
xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"}
xref: UMLS:C3810325 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615704"}
is_a: MONDO:0016382 {source="Orphanet:221043"} ! hereditary poikiloderma
is_a: MONDO:0017027 {source="Orphanet:221043"} ! primary interstitial lung disease specific to adulthood
property_value: exactMatch http://identifiers.org/omim/615704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810325
property_value: exactMatch Orphanet:221043

[Term]
id: MONDO:0014311
name: autosomal recessive spinocerebellar ataxia 15
def: "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:404499"}
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" EXACT []
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [Orphanet:404499]
synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [DOID:0080057, MONDORULE:2, Orphanet:404499]
synonym: "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Salih ataxia" RELATED [OMIM:615705]
synonym: "SCAR15" EXACT [MONDO:Lexical, OMIM:615705, Orphanet:404499]
synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705]
synonym: "spinocerebellar ataxia, autosomal recessive 15; SCAR15" RELATED [OMIM:615705]
synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705]
xref: DOID:0080057 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:404499/attributed", source="ORDO:404499/ntbt", source="Orphanet:404499"}
xref: OMIM:615705 {source="DOID:0080057", source="MONDO:equivalentTo", source="ORDO:404499/e", source="Orphanet:404499"}
xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"}
xref: UMLS:C3810326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615705"}
is_a: MONDO:0018446 {source="MONDO:Redundant", source="MONDOLEX:0014311", source="Orphanet:404499"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
property_value: exactMatch DOID:0080057
property_value: exactMatch http://identifiers.org/omim/615705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810326
property_value: exactMatch Orphanet:404499

[Term]
id: MONDO:0014312
name: auriculocondylar syndrome 3
synonym: "ARCND3" RELATED [MONDO:Lexical, OMIM:615706]
synonym: "Auriculocondylar syndrome 3" EXACT [MONDO:Lexical, OMIM:615706]
synonym: "AURICULOCONDYLAR syndrome 3; ARCND3" RELATED [OMIM:615706]
synonym: "Auriculocondylar syndrome type 3" EXACT [MONDORULE:1, OMIM:615706]
xref: OMIM:615706 {source="MONDO:equivalentTo"}
xref: UMLS:C3810332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615706"}
is_a: MONDO:0000107 {source="DC-OMIM:615706", source="OMIM:615706"} ! auriculocondylar syndrome
property_value: exactMatch http://identifiers.org/omim/615706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810332

[Term]
id: MONDO:0014313
name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
subset: ordo_disease {source="Orphanet:437552"}
synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [Orphanet:437552]
synonym: "CD16 deficiency" EXACT [Orphanet:437552]
synonym: "IMD20" RELATED [MONDO:Lexical, OMIM:615707]
synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707]
synonym: "immunodeficiency 20; IMD20" RELATED [OMIM:615707]
synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707]
xref: ICD10:D84.8 {source="ORDO:437552/attributed", source="ORDO:437552/ntbt", source="Orphanet:437552"}
xref: OMIM:615707 {source="MONDO:equivalentTo", source="ORDO:437552/e", source="Orphanet:437552"}
xref: Orphanet:437552 {source="MONDO:equivalentTo"}
xref: UMLS:C3810342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615707"}
is_a: MONDO:0018545 {source="Orphanet:437552"} ! primary immunodeficiency with predisposition to severe viral infection
property_value: exactMatch http://identifiers.org/omim/615707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810342
property_value: exactMatch Orphanet:437552

[Term]
id: MONDO:0014314
name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
subset: ordo_malformation_syndrome {source="Orphanet:397927"}
synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709]
synonym: "sacral agenesis with vertebral anomalies; SAVA" RELATED [OMIM:615709]
synonym: "SAVA" RELATED [MONDO:Lexical, OMIM:615709]
xref: ICD10:Q87.5 {source="ORDO:397927/attributed", source="ORDO:397927/ntbt", source="Orphanet:397927"}
xref: OMIM:615709 {source="MONDO:equivalentTo", source="Orphanet:397927", source="ORDO:397927/e"}
xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"}
xref: UMLS:C3810343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615709"}
is_a: MONDO:0017085 {source="Orphanet:397927"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch http://identifiers.org/omim/615709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810343
property_value: exactMatch Orphanet:397927

[Term]
id: MONDO:0014315
name: Mitchell-Riley syndrome
synonym: "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" RELATED [OMIM:615710]
synonym: "Mitchell-Riley syndrome" EXACT [MONDO:Lexical, OMIM:615710]
synonym: "Mitchell-RILEY syndrome; MTCHRS" RELATED [OMIM:615710]
synonym: "MTCHRS" RELATED [MONDO:Lexical, OMIM:615710]
xref: OMIM:615710 {source="MONDO:equivalentTo"}
is_a: MONDO:0017400 {source="ORDO:293864/btnt"} ! hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
property_value: exactMatch http://identifiers.org/omim/615710

[Term]
id: MONDO:0014316
name: Alzheimer disease 19
def: "Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AD19" EXACT [DOID:0110051, MONDO:Lexical, OMIM:615711]
synonym: "Alzheimer disease 19" EXACT [DOID:0110051, MONDO:Lexical, OMIM:615711]
synonym: "Alzheimer disease 19 late onset" EXACT [DOID:0110051]
synonym: "Alzheimer disease 19, late-onset" RELATED [OMIM:615711]
synonym: "Alzheimer disease 19; AD19" RELATED [OMIM:615711]
synonym: "Alzheimer disease caused by mutation in PLD3" EXACT [MONDO:design_pattern]
synonym: "Alzheimer disease type 19" EXACT [MONDORULE:2, OMIM:615711]
synonym: "Alzheimer's disease 19" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 19" EXACT [DOID:0110051, MONDORULE:2]
synonym: "PLD3 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110051 {source="MONDO:equivalentTo"}
xref: OMIM:615711 {source="DOID:0110051", source="MONDO:equivalentTo"}
xref: UMLS:C3810349 {source="NCBI:mim2gene_medline", source="OMIM:615711", source="MONDO:equivalentTo"}
is_a: MONDO:0004975 {source="DC-OMIM:615711", source="DOID:0110051", source="MONDO:Redundant", source="MONDOLEX:0014316"} ! Alzheimer disease
property_value: exactMatch DOID:0110051
property_value: exactMatch http://identifiers.org/omim/615711
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810349

[Term]
id: MONDO:0014317
name: pancytopenia-developmental delay syndrome
subset: ordo_disease {source="Orphanet:401764"}
synonym: "BMFS2" RELATED [MONDO:Lexical, OMIM:615715]
synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715]
synonym: "bone marrow failure syndrome 2; BMFS2" RELATED [OMIM:615715]
synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715]
synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764]
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="Orphanet:401764", source="ORDO:401764/attributed", source="ORDO:401764/ntbt"}
xref: OMIM:615715 {source="ORDO:401764/e", source="Orphanet:401764", source="MONDO:equivalentTo"}
xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"}
xref: UMLS:C3810350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615715"}
is_a: MONDO:0000159 {source="DC-OMIM:615715", source="OMIM:615715"} ! bone marrow failure syndrome
is_a: MONDO:0001713 {source="Orphanet:401764"} ! inherited aplastic anemia
property_value: exactMatch http://identifiers.org/omim/615715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810350
property_value: exactMatch Orphanet:401764

[Term]
id: MONDO:0014318
name: hyperphosphatasia with intellectual disability syndrome 4
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 10" RELATED [OMIM:615716]
synonym: "HPMRS4" RELATED [MONDO:Lexical, OMIM:615716]
synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT [MONDO:Lexical, OMIM:615716]
synonym: "hyperphosphatasia with mental retardation syndrome 4; HPMRS4" RELATED [OMIM:615716]
synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT [MONDORULE:1, OMIM:615716]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3" EXACT [MONDO:design_pattern]
synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615716 {source="MONDO:equivalentTo"}
xref: UMLS:C3810354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615716"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:615716", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/615716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810354

[Term]
id: MONDO:0014319
name: renal hypodysplasia/aplasia 2
def: "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FGF20 renal agenesis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "renal agenesis (disease) caused by mutation in FGF20" EXACT []
synonym: "renal hypodysplasia/aplasia 2" EXACT [MONDO:Lexical, OMIM:615721]
synonym: "renal hypodysplasia/aplasia 2; RHDA2" RELATED [OMIM:615721]
synonym: "renal hypodysplasia/aplasia type 2" EXACT [MONDORULE:1, OMIM:615721]
synonym: "RHDA2" RELATED [MONDO:Lexical, OMIM:615721]
xref: OMIM:615721 {source="MONDO:equivalentTo"}
xref: UMLS:C3810359 {source="OMIM:615721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018470 {source="MONDO:Redundant", source="OMIM:615721", source="ORDO:411709/btnt"} ! renal agenesis (disease)
property_value: exactMatch http://identifiers.org/omim/615721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810359

[Term]
id: MONDO:0014320
name: optic atrophy-intellectual disability syndrome
def: "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." [Orphanet:401777]
subset: ordo_disease {source="Orphanet:401777"}
synonym: "BBSOAS" RELATED [MONDO:Lexical, OMIM:615722]
synonym: "BOSCH-Boonstra-Schaaf optic atrophy syndrome" RELATED [MONDO:Lexical, OMIM:615722]
synonym: "BOSCH-Boonstra-Schaaf optic atrophy syndrome; BBSOAS" RELATED [OMIM:615722]
xref: ICD10:H47.2 {source="MONDO:relatedTo", source="Orphanet:401777", source="ORDO:401777/attributed", source="ORDO:401777/ntbt"}
xref: OMIM:615722 {source="ORDO:401777/e", source="Orphanet:401777", source="MONDO:equivalentTo"}
xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"}
xref: UMLS:C3810363 {source="NCBI:mim2gene_medline", source="OMIM:615722", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:401777"} ! syndromic intellectual disability
is_a: MONDO:0018609 {source="Orphanet:401777"} ! syndromic hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/omim/615722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810363
property_value: exactMatch Orphanet:401777

[Term]
id: MONDO:0014321
name: premature ovarian failure 8
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "POF8" RELATED [MONDO:Lexical, OMIM:615723]
synonym: "premature ovarian failure 8" EXACT [MONDO:Lexical, OMIM:615723]
synonym: "premature ovarian failure 8; POF8" RELATED [OMIM:615723]
synonym: "premature ovarian failure type 8" EXACT [MONDORULE:1, OMIM:615723]
synonym: "primary ovarian failure caused by mutation in STAG3" EXACT [MONDO:design_pattern]
synonym: "STAG3 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615723 {source="MONDO:equivalentTo"}
xref: UMLS:C3810367 {source="OMIM:615723", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/omim/615723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810367

[Term]
id: MONDO:0014322
name: premature ovarian failure 9
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HFM1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof9" RELATED [MONDO:Lexical, OMIM:615724]
synonym: "premature ovarian failure 9" EXACT [MONDO:Lexical, OMIM:615724]
synonym: "premature ovarian failure 9; Pof9" RELATED [OMIM:615724]
synonym: "premature ovarian failure type 9" EXACT [MONDORULE:1, OMIM:615724]
synonym: "primary ovarian failure caused by mutation in HFM1" EXACT [MONDO:design_pattern]
xref: OMIM:615724 {source="MONDO:equivalentTo"}
xref: UMLS:C3810376 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615724"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: closeMatch Orphanet:619
property_value: exactMatch http://identifiers.org/omim/615724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810376

[Term]
id: MONDO:0014323
name: retinitis pigmentosa 68
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 68" EXACT [MONDO:Lexical, OMIM:615725]
synonym: "retinitis pigmentosa 68; RP68" RELATED [OMIM:615725]
synonym: "retinitis pigmentosa caused by mutation in SLC7A14" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 68" EXACT [DOID:0110374, MONDORULE:2, OMIM:615725]
synonym: "RP68" EXACT [DOID:0110374, MONDO:Lexical, OMIM:615725]
synonym: "SLC7A14 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110374 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110374"}
xref: OMIM:615725 {source="MONDO:equivalentTo", source="DOID:0110374"}
xref: UMLS:C3810380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615725"}
is_a: MONDO:0019200 {source="DC-OMIM:615725", source="DOID:0110374", source="MONDO:Redundant", source="OMIM:615725"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110374
property_value: exactMatch http://identifiers.org/omim/615725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810380

[Term]
id: MONDO:0014324
name: pachyonychia congenita 3
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KRT6A pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 3" EXACT [MONDO:Lexical, OMIM:615726]
synonym: "pachyonychia congenita 3; PC3" RELATED [OMIM:615726]
synonym: "pachyonychia congenita caused by mutation in KRT6A" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1, OMIM:615726]
synonym: "PC3" RELATED [MONDO:Lexical, OMIM:615726]
xref: OMIM:615726 {source="MONDO:equivalentTo"}
xref: UMLS:C3714948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615726"}
is_a: MONDO:0016471 {source="DC-OMIM:615726", source="MONDO:Redundant", source="OMIM:615726"} ! pachyonychia congenita
property_value: exactMatch http://identifiers.org/omim/615726
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714948

[Term]
id: MONDO:0014325
name: pachyonychia congenita 4
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KRT6B pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 4" EXACT [MONDO:Lexical, OMIM:615728]
synonym: "pachyonychia congenita 4; PC4" RELATED [OMIM:615728]
synonym: "pachyonychia congenita caused by mutation in KRT6B" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1, OMIM:615728]
synonym: "PC4" RELATED [MONDO:Lexical, OMIM:615728]
xref: OMIM:615728 {source="MONDO:equivalentTo"}
xref: UMLS:C3714949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615728"}
is_a: MONDO:0016471 {source="DC-OMIM:615728", source="MONDO:Redundant", source="OMIM:615728"} ! pachyonychia congenita
property_value: exactMatch http://identifiers.org/omim/615728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714949

[Term]
id: MONDO:0014326
name: nemaline myopathy 9
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM9" EXACT [DOID:0110929, MONDO:Lexical, OMIM:615731]
synonym: "nemaline myopathy 9" EXACT [MONDO:Lexical, OMIM:615731]
synonym: "nemaline myopathy 9; NEM9" RELATED [OMIM:615731]
synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1, OMIM:615731]
xref: DOID:0110929 {source="MONDO:equivalentTo"}
xref: OMIM:615731 {source="MONDO:equivalentTo", source="DOID:0110929"}
xref: UMLS:C3810384 {source="OMIM:615731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy
property_value: exactMatch DOID:0110929
property_value: exactMatch http://identifiers.org/omim/615731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810384

[Term]
id: MONDO:0014327
name: autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
subset: ordo_disease {source="Orphanet:402003"}
synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" RELATED [MONDO:Lexical, OMIM:615735]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse; PPKNEFD" RELATED [OMIM:615735]
synonym: "PPKNEFD" RELATED [MONDO:Lexical, OMIM:615735]
xref: ICD10:Q82.8 {source="ORDO:402003/attributed", source="ORDO:402003/ntbt", source="Orphanet:402003"}
xref: OMIM:615735 {source="MONDO:equivalentTo", source="Orphanet:402003", source="ORDO:402003/e"}
xref: Orphanet:402003 {source="MONDO:equivalentTo", source="OMIM:615735"}
xref: UMLS:C3810394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615735"}
is_a: MONDO:0006588 {source="DC-OMIM:615735"} ! nonepidermolytic palmoplantar keratoderma
is_a: MONDO:0017673 {source="Orphanet:402003"} ! isolated focal palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/omim/615735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810394
property_value: exactMatch Orphanet:402003

[Term]
id: MONDO:0014328
name: epileptic encephalopathy, early infantile, 19
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Early Infantile epileptic encephalopathy 19" EXACT [NCIT:C142802]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRA1" EXACT [MONDO:design_pattern]
synonym: "EIEE19" RELATED [MONDO:Lexical, OMIM:615744]
synonym: "epileptic encephalopathy, early infantile, 19" EXACT [MONDO:Lexical, OMIM:615744]
synonym: "epileptic encephalopathy, early infantile, 19; EIEE19" RELATED [OMIM:615744]
synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2, OMIM:615744]
synonym: "GABRA1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: NCIT:C142802 {source="MONDO:equivalentTo"}
xref: OMIM:615744 {source="MONDO:equivalentTo"}
xref: UMLS:C3810400 {source="NCBI:mim2gene_medline", source="OMIM:615744", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744", source="indirect"} ! early infantile epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome
property_value: exactMatch http://identifiers.org/omim/615744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810400
property_value: exactMatch NCIT:C142802

[Term]
id: MONDO:0014329
name: atrial standstill 2
def: "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrial dilation and standstill" RELATED [OMIM:615745]
synonym: "atrial standstill 2" EXACT [MONDO:Lexical, OMIM:615745]
synonym: "atrial standstill 2; ATRST2" RELATED [OMIM:615745]
synonym: "atrial standstill caused by mutation in NPPA" EXACT [MONDO:design_pattern]
synonym: "atrial standstill type 2" EXACT [MONDORULE:1, OMIM:615745]
synonym: "ATRST2" RELATED [MONDO:Lexical, OMIM:615745]
synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [OMIM:615745]
synonym: "NPPA atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615745 {source="MONDO:equivalentTo"}
xref: UMLS:C3810401 {source="OMIM:615745", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015281 {source="DC-OMIM:615745", source="MONDO:Redundant"} ! atrial standstill
property_value: exactMatch http://identifiers.org/omim/615745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810401

[Term]
id: MONDO:0014330
name: obsolete eculizumab, poor response to
synonym: "eculizumab, poor response to" EXACT [OMIM:615749]
xref: OMIM:615749 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C3810402 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:615749"}
property_value: exactMatch http://identifiers.org/omim/615749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810402
is_obsolete: true

[Term]
id: MONDO:0014331
name: Moyamoya disease with early-onset achalasia
def: "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." [Orphanet:401945]
subset: ordo_disease {source="Orphanet:401945"}
synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750]
synonym: "Moyamoya disease 6 with achalasia; MYMY6" RELATED [OMIM:615750]
synonym: "MYMY6" RELATED [MONDO:Lexical, OMIM:615750]
xref: ICD10:I67.5 {source="ORDO:401945/attributed", source="ORDO:401945/ntbt", source="Orphanet:401945"}
xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="ORDO:401945/e"}
xref: Orphanet:401945 {source="MONDO:equivalentTo", source="OMIM:615750"}
xref: SCTID:718551002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C3810403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615750"}
is_a: MONDO:0015617 {source="Orphanet:401945"} ! genetic gastro-esophageal disease
is_a: MONDO:0016820 {source="DC-OMIM:615750", source="OMIM:615750"} ! Moyamoya disease
is_a: MONDO:0018792 {source="Orphanet:401945"} ! Moyamoya syndrome
property_value: exactMatch http://identifiers.org/omim/615750
property_value: exactMatch http://identifiers.org/snomedct/718551002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810403
property_value: exactMatch Orphanet:401945

[Term]
id: MONDO:0014332
name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
subset: ordo_disease {source="Orphanet:401948"}
synonym: "CA-VA deficiency" EXACT [Orphanet:401948]
synonym: "CA5AD" RELATED [MONDO:Lexical, OMIM:615751]
synonym: "carbonic anhydrase 5A deficiency, hyperammonemia due to" RELATED [OMIM:615751]
synonym: "carbonic anhydrase VA deficiency" RELATED [GARD:0013201]
synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MONDO:Lexical, OMIM:615751]
synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to; CA5AD" RELATED [OMIM:615751]
synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD:0013201]
synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201]
xref: GARD:0013201 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E74.8 {source="ORDO:401948/attributed", source="ORDO:401948/ntbt", source="Orphanet:401948"}
xref: OMIM:615751 {source="MONDO:equivalentTo", source="ORDO:401948/e", source="Orphanet:401948"}
xref: Orphanet:401948 {source="OMIM:615751", source="MONDO:equivalentTo"}
xref: SCTID:764456001 {source="MONDO:equivalentTo"}
xref: UMLS:C3810404 {source="OMIM:615751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019217 {source="Orphanet:401948"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
is_a: MONDO:0019225 {source="Orphanet:401948"} ! gluconeogenesis disorder
property_value: exactMatch http://identifiers.org/omim/615751
property_value: exactMatch http://identifiers.org/snomedct/764456001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810404
property_value: exactMatch Orphanet:401948

[Term]
id: MONDO:0014333
name: polymicrogyria, bilateral perisylvian, autosomal recessive
synonym: "BPPR" RELATED [MONDO:Lexical, OMIM:615752]
synonym: "Pmgr" RELATED [OMIM:615752]
synonym: "polymicrogyria, bilateral perisylvian, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615752]
synonym: "polymicrogyria, bilateral perisylvian, autosomal recessive; BPPR" RELATED [OMIM:615752]
xref: OMIM:615752 {source="MONDO:equivalentTo"}
xref: UMLS:C3810405 {source="OMIM:615752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria
property_value: exactMatch http://identifiers.org/omim/615752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810405

[Term]
id: MONDO:0014334
name: severe combined immunodeficiency due to LCK deficiency
subset: ordo_disease {source="Orphanet:280142"}
synonym: "IMD22" RELATED [MONDO:Lexical, OMIM:615758]
synonym: "immunodeficiency 22" RELATED [MONDO:Lexical, OMIM:615758]
synonym: "immunodeficiency 22; IMD22" RELATED [OMIM:615758]
synonym: "immunodeficiency type 22" EXACT [MONDORULE:2, OMIM:615758]
synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142]
synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142]
synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142]
xref: ICD10:D81.1 {source="ORDO:280142/attributed", source="ORDO:280142/ntbt", source="Orphanet:280142"}
xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="ORDO:280142/e"}
xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"}
xref: UMLS:C4014233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017855 {source="Orphanet:280142"} ! T-B- severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014233
property_value: exactMatch Orphanet:280142

[Term]
id: MONDO:0014335
name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:404437"}
synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760]
synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy; MSCCA" RELATED [OMIM:615760]
synonym: "MSCCA" RELATED [MONDO:Lexical, OMIM:615760]
xref: ICD10:G98 {source="Orphanet:404437", source="ORDO:404437/attributed", source="ORDO:404437/ntbt"}
xref: OMIM:615760 {source="ORDO:404437/e", source="Orphanet:404437", source="MONDO:equivalentTo"}
xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"}
xref: UMLS:C4014239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015655 {source="Orphanet:404437"} ! cerebral malformation with epilepsy
is_a: MONDO:0017119 {source="Orphanet:404437"} ! syndrome with microcephaly as major feature
property_value: exactMatch http://identifiers.org/omim/615760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014239
property_value: exactMatch Orphanet:404437

[Term]
id: MONDO:0014336
name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
subset: ordo_malformation_syndrome {source="Orphanet:404440"}
synonym: "autosomal dominant mental retardation 23" EXACT [DOID:0070053]
synonym: "autosomal dominant non-syndromic intellectual disability 23" RELATED [DOID:0070053]
synonym: "mental retardation, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:615761]
synonym: "mental retardation, autosomal dominant 23; MRD23" RELATED [OMIM:615761]
synonym: "mental retardation, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:615761]
synonym: "MRD23" EXACT [DOID:0070053, MONDO:Lexical, OMIM:615761]
xref: DOID:0070053 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:404440/attributed", source="ORDO:404440/ntbt", source="Orphanet:404440"}
xref: OMIM:615761 {source="DOID:0070053", source="MONDO:equivalentTo", source="ORDO:404440/e", source="Orphanet:404440"}
xref: Orphanet:404440 {source="MONDO:equivalentTo", source="OMIM:615761"}
xref: UMLS:C3810406 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615761"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404440", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:404440"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070053"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070053
property_value: exactMatch http://identifiers.org/omim/615761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810406
property_value: exactMatch Orphanet:404440

[Term]
id: MONDO:0014337
name: complex cortical dysplasia with other brain malformations 5
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM5" EXACT [DOID:0090135, MONDO:Lexical, OMIM:615763]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 5" EXACT [DOID:0090135, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 5" RELATED [MONDO:Lexical, OMIM:615763]
synonym: "cortical dysplasia, complex, with other brain malformations 5; CDCBM5" RELATED [OMIM:615763]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 5" EXACT [MONDORULE:1, OMIM:615763]
synonym: "TUBB2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090135 {source="MONDO:equivalentTo"}
xref: OMIM:615763 {source="DOID:0090135", source="MONDO:equivalentTo"}
xref: UMLS:C3810407 {source="OMIM:615763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="DOID:0090135", source="MONDO:Redundant", source="OMIM:615763"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0090135
property_value: exactMatch http://identifiers.org/omim/615763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3810407

[Term]
id: MONDO:0014338
name: IL21-related infantile inflammatory bowel disease
subset: ordo_disease {source="Orphanet:477661"}
synonym: "CVID11" RELATED [MONDO:Lexical, OMIM:615767]
synonym: "IL21 deficiency" RELATED [OMIM:615767]
synonym: "IL21-related infantile IBD" EXACT [Orphanet:477661]
synonym: "immunodeficiency, common variable, 11" RELATED [MONDO:Lexical, OMIM:615767]
synonym: "immunodeficiency, common variable, 11; CVID11" RELATED [OMIM:615767]
synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2, OMIM:615767]
xref: OMIM:615767 {source="MONDO:equivalentTo", source="Orphanet:477661"}
xref: Orphanet:477661 {source="MONDO:equivalentTo"}
xref: UMLS:C4014258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:615767", source="MONDOLEX:0014338", source="OMIM:615767"} ! common variable immunodeficiency
is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
is_a: MONDO:0018814 {source="Orphanet:477661"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615767
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014258
property_value: exactMatch Orphanet:477661

[Term]
id: MONDO:0014339
name: autosomal recessive spinocerebellar ataxia 16
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:412057"}
synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057]
synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [DOID:0080029, MONDORULE:2]
synonym: "SCAR16" EXACT [MONDO:Lexical, OMIM:615768, Orphanet:412057]
synonym: "spinocerebellar ataxia autosomal recessive type 16" EXACT [Orphanet:412057]
synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:615768]
synonym: "spinocerebellar ataxia, autosomal recessive 16; SCAR16" RELATED [OMIM:615768]
synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768]
synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080029 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:412057/attributed", source="ORDO:412057/ntbt", source="Orphanet:412057"}
xref: OMIM:615768 {source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057", source="ORDO:412057/e"}
xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"}
xref: UMLS:C4014261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch DOID:0080029
property_value: exactMatch http://identifiers.org/omim/615768
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014261
property_value: exactMatch Orphanet:412057

[Term]
id: MONDO:0014340
name: atrial fibrillation, familial, 15
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB15" RELATED [MONDO:Lexical, OMIM:615770]
synonym: "atrial fibrillation, familial, 15" EXACT [MONDO:Lexical, OMIM:615770]
synonym: "atrial fibrillation, familial, 15; ATFB15" RELATED [OMIM:615770]
synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2, OMIM:615770]
synonym: "familial atrial fibrillation caused by mutation in NUP155" EXACT [MONDO:design_pattern]
synonym: "NUP155 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615770 {source="MONDO:equivalentTo"}
xref: UMLS:C4014269 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:615770", source="MONDO:Redundant", source="MONDOLEX:0014340", source="OMIM:615770"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/615770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014269

[Term]
id: MONDO:0014341
name: complex cortical dysplasia with other brain malformations 6
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM56" EXACT [DOID:0090136]
synonym: "CDCBM6" RELATED [MONDO:Lexical, OMIM:615771]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 6" EXACT [DOID:0090136, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 6" RELATED [MONDO:Lexical, OMIM:615771]
synonym: "cortical dysplasia, complex, with other brain malformations 6; CDCBM6" RELATED [OMIM:615771]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 6" EXACT [MONDORULE:1, OMIM:615771]
synonym: "TUBB complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090136 {source="MONDO:equivalentTo"}
xref: OMIM:615771 {source="MONDO:equivalentTo", source="DOID:0090136"}
xref: UMLS:C4014283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="DOID:0090136", source="MONDO:Redundant", source="OMIM:615771"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0090136
property_value: exactMatch http://identifiers.org/omim/615771
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014283

[Term]
id: MONDO:0014342
name: female infertility due to zona pellucida defect
def: "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." [Orphanet:404466]
subset: ordo_disease {source="Orphanet:404466"}
synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774]
synonym: "oocyte maturation defect 1" RELATED [OMIM:615774]
synonym: "oocyte maturation defect 1; OOMD1" RELATED [OMIM:615774]
synonym: "oocyte maturation defect; OOMD" RELATED [OMIM:615774]
synonym: "OOMD" RELATED [MONDO:Lexical, OMIM:615774]
synonym: "OOMD1" RELATED [OMIM:615774]
xref: ICD10:N97.8 {source="ORDO:404466/attributed", source="ORDO:404466/ntbt", source="Orphanet:404466"}
xref: OMIM:615774 {source="MONDO:equivalentTo", source="ORDO:404466/e", source="Orphanet:404466"}
xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"}
xref: UMLS:C4014291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:615774"} ! inherited oocyte maturation defect
is_a: MONDO:0018444 {source="Orphanet:404466"} ! female infertility due to fertilization defect
property_value: exactMatch http://identifiers.org/omim/615774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014291
property_value: exactMatch Orphanet:404466

[Term]
id: MONDO:0014343
name: Desbuquois dysplasia 2
def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBQD2" RELATED [MONDO:Lexical, OMIM:615777]
synonym: "Desbuquois dysplasia 2" EXACT [MONDO:Lexical, OMIM:615777]
synonym: "Desbuquois dysplasia 2; DBQD2" RELATED [OMIM:615777]
synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern]
synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777]
synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615777 {source="MONDO:equivalentTo"}
xref: UMLS:C4014294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777"} ! Desbuquois dysplasia
property_value: exactMatch http://identifiers.org/omim/615777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014294

[Term]
id: MONDO:0014344
name: congenital heart defects, multiple types, 4
def: "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHTD4" RELATED [MONDO:Lexical, OMIM:615779]
synonym: "congenital heart defects, multiple types caused by mutation in NR2F2" EXACT [MONDO:design_pattern]
synonym: "congenital heart defects, multiple types, 4" EXACT [MONDO:Lexical, OMIM:615779]
synonym: "congenital heart defects, multiple types, 4; CHTD4" RELATED [OMIM:615779]
synonym: "NR2F2 congenital heart defects, multiple types" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615779 {source="MONDO:equivalentTo"}
xref: UMLS:C4014310 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000119 {source="DC-OMIM:615779", source="MONDO:Redundant", source="MONDOLEX:0014344"} ! congenital heart defects, multiple types
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020290 {source="ORDO:98722/btnt"} ! atrioventricular septal defect
property_value: exactMatch http://identifiers.org/omim/615779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014310

[Term]
id: MONDO:0014345
name: retinitis pigmentosa 69
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KIZ retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 69" EXACT [MONDO:Lexical, OMIM:615780]
synonym: "retinitis pigmentosa 69; RP69" RELATED [OMIM:615780]
synonym: "retinitis pigmentosa caused by mutation in KIZ" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 69" EXACT [DOID:0110410, MONDORULE:2, OMIM:615780]
synonym: "RP69" EXACT [DOID:0110410, MONDO:Lexical, OMIM:615780]
xref: DOID:0110410 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110410"}
xref: OMIM:615780 {source="MONDO:equivalentTo", source="DOID:0110410"}
xref: UMLS:C4014312 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:615780", source="DOID:0110410", source="MONDO:Redundant", source="OMIM:615780"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110410
property_value: exactMatch http://identifiers.org/omim/615780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014312

[Term]
id: MONDO:0014346
name: white sponge nevus 2
synonym: "white sponge nevus 2" EXACT [MONDO:Lexical, OMIM:615785]
synonym: "WHITE sponge NEVUS 2; WSN2" RELATED [OMIM:615785]
synonym: "White sponge Nevus type 2" EXACT [MONDORULE:1, OMIM:615785]
synonym: "WSN2" RELATED [MONDO:Lexical, OMIM:615785]
xref: OMIM:615785 {source="MONDO:equivalentTo"}
xref: UMLS:C4014321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015748 {source="DC-OMIM:615785", source="OMIM:615785"} ! hereditary mucosal leukokeratosis
property_value: exactMatch http://identifiers.org/omim/615785
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014321

[Term]
id: MONDO:0014347
name: short stature with microcephaly and distinctive facies
synonym: "short stature with microcephaly and distinctive facies" EXACT [OMIM:615789]
xref: OMIM:615789 {source="MONDO:equivalentTo"}
xref: UMLS:C4014339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014339

[Term]
id: MONDO:0014348
name: intellectual disability, autosomal recessive 42
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" EXACT [MONDO:design_pattern]
synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [OMIM:615802]
synonym: "mental retardation, autosomal recessive 42" RELATED [MONDO:Lexical, OMIM:615802]
synonym: "mental retardation, autosomal recessive 42; MRT42" RELATED [OMIM:615802]
synonym: "mental retardation, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:615802]
synonym: "MRT42" RELATED [MONDO:Lexical, OMIM:615802]
synonym: "PGAP1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615802 {source="MONDO:equivalentTo"}
xref: UMLS:C4014343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:615802", source="MONDO:Redundant", source="OMIM:615802"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/615802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014343

[Term]
id: MONDO:0014349
name: pontocerebellar hypoplasia type 10
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:411493"}
synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" EXACT [MONDO:design_pattern]
synonym: "PCH10" EXACT [MONDO:Lexical, OMIM:615803, Orphanet:411493]
synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803]
synonym: "pontocerebellar hypoplasia, type 10; PCH10" RELATED [OMIM:615803]
xref: DOID:0060279 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:411493/attributed", source="ORDO:411493/ntbt", source="Orphanet:411493"}
xref: OMIM:615803 {source="DOID:0060279", source="MONDO:equivalentTo", source="ORDO:411493/e", source="Orphanet:411493"}
xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", source="OMIM:615803"}
xref: UMLS:C4014347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020135 {source="DC-OMIM:615803", source="DOID:0060279", source="MONDO:Redundant", source="OMIM:615803", source="Orphanet:411493"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060279
property_value: exactMatch http://identifiers.org/omim/615803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014347
property_value: exactMatch Orphanet:411493

[Term]
id: MONDO:0014350
name: Seckel syndrome 8
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNA2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL8" EXACT [DOID:0070009, MONDO:Lexical, OMIM:615807]
synonym: "Seckel syndrome 8" EXACT [MONDO:Lexical, OMIM:615807]
synonym: "Seckel syndrome 8; SCKL8" RELATED [OMIM:615807]
synonym: "Seckel syndrome caused by mutation in DNA2" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1, OMIM:615807]
xref: DOID:0070009 {source="MONDO:equivalentTo"}
xref: OMIM:615807 {source="MONDO:equivalentTo", source="DOID:0070009"}
xref: UMLS:C3891452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:615807", source="DOID:0070009", source="MONDO:Redundant", source="MONDOLEX:0014350", source="OMIM:615807"} ! Seckel syndrome
property_value: exactMatch DOID:0070009
property_value: exactMatch http://identifiers.org/omim/615807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3891452

[Term]
id: MONDO:0014351
name: pontocerebellar hypoplasia type 9
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:369920"}
synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern]
synonym: "PCH9" EXACT [MONDO:Lexical, OMIM:615809, Orphanet:369920]
synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809]
synonym: "pontocerebellar hypoplasia, type 9; PCH9" RELATED [OMIM:615809]
xref: DOID:0060278 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:369920", source="DOID:0060278", source="ORDO:369920/attributed", source="ORDO:369920/ntbt"}
xref: OMIM:615809 {source="Orphanet:369920", source="ORDO:369920/e", source="DOID:0060278", source="MONDO:equivalentTo"}
xref: Orphanet:369920 {source="DOID:0060278", source="MONDO:equivalentTo", source="OMIM:615809"}
xref: UMLS:C4014354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020135 {source="DC-OMIM:615809", source="DOID:0060278", source="MONDO:Redundant", source="OMIM:615809", source="Orphanet:369920"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060278
property_value: exactMatch http://identifiers.org/omim/615809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014354
property_value: exactMatch Orphanet:369920

[Term]
id: MONDO:0014352
name: abdominal obesity-metabolic syndrome 3
def: "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "abdominal obesity-metabolic syndrome 3" EXACT [MONDO:Lexical, OMIM:615812]
synonym: "abdominal obesity-metabolic syndrome 3; AOMS3" RELATED [OMIM:615812]
synonym: "abdominal obesity-metabolic syndrome type 3" EXACT [DOID:0060612, MONDORULE:1, OMIM:615812]
synonym: "AOMS3" RELATED [MONDO:Lexical, OMIM:615812]
synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" RELATED [OMIM:615812]
synonym: "DYRK1B metabolic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "metabolic syndrome caused by mutation in DYRK1B" EXACT [MONDO:design_pattern]
xref: DOID:0060612 {source="MONDO:equivalentTo"}
xref: OMIM:615812 {source="MONDO:equivalentTo", source="DOID:0060612"}
xref: UMLS:C4014361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000816 {source="DC-OMIM:615812", source="DOID:0060612", source="OMIM:615812"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0004955 {source="MONDO:Redundant", source="MONDOLEX:0014352"} ! metabolic syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch DOID:0060612
property_value: exactMatch http://identifiers.org/omim/615812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014361

[Term]
id: MONDO:0014353
name: PGM3-CDG
subset: ordo_disease {source="Orphanet:443811"}
synonym: "Cid due to PGM3 deficiency" EXACT [Orphanet:443811]
synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [Orphanet:443811]
synonym: "IMD23" RELATED [MONDO:Lexical, OMIM:615816]
synonym: "immunodeficiency 23" RELATED [MONDO:Lexical, OMIM:615816]
synonym: "immunodeficiency 23; IMD23" RELATED [OMIM:615816]
synonym: "immunodeficiency type 23" EXACT [MONDORULE:2, OMIM:615816]
synonym: "immunodeficiency with hyper IgE and cognitive impairment" RELATED [OMIM:615816]
synonym: "immunodeficiency-vasculitis-myoclonus syndrome" RELATED [OMIM:615816]
synonym: "PGM3-related congenital disorder of glycosylation" EXACT [Orphanet:443811]
synonym: "phosphoglucomutase 3 deficiency" RELATED [GARD:0004331]
synonym: "phosphoglucomutase deficiency type 3" RELATED [GARD:0004331]
xref: GARD:0004331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E77.8 {source="ORDO:443811/attributed", source="ORDO:443811/ntbt", source="Orphanet:443811"}
xref: OMIM:615816 {source="MONDO:equivalentTo", source="Orphanet:443811", source="ORDO:443811/e"}
xref: Orphanet:443811 {source="MONDO:equivalentTo"}
xref: UMLS:C4014371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015919 {source="Orphanet:443811"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0017749 {source="Orphanet:443811"} ! disorder of multiple glycosylation
property_value: exactMatch http://identifiers.org/omim/615816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014371
property_value: exactMatch Orphanet:443811

[Term]
id: MONDO:0014354
name: intellectual disability, autosomal recessive 43
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 43" RELATED [MONDO:Lexical, OMIM:615817]
synonym: "mental retardation, autosomal recessive 43; MRT43" RELATED [OMIM:615817]
synonym: "mental retardation, autosomal recessive type 43" EXACT [MONDORULE:2, OMIM:615817]
synonym: "MRT43" RELATED [MONDO:Lexical, OMIM:615817]
synonym: "WASHC4 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615817 {source="MONDO:equivalentTo"}
xref: UMLS:C4014386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:615817", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/615817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014386

[Term]
id: MONDO:0014355
name: cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
synonym: "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical, OMIM:615821]
synonym: "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; DCWHKTA" RELATED [OMIM:615821]
synonym: "DCWHKTA" RELATED [MONDO:Lexical, OMIM:615821]
xref: OMIM:615821 {source="MONDO:equivalentTo"}
xref: UMLS:C4014393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011581 {source="ORDO:65282/btnt"} ! arrhythmogenic cardiomyopathy with woolly hair and keratoderma
property_value: exactMatch http://identifiers.org/omim/615821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014393

[Term]
id: MONDO:0014356
name: mitochondrial complex III deficiency nuclear type 7
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN7" RELATED [MONDO:Lexical, OMIM:615824]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [OMIM:615824]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCC2" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical, OMIM:615824]
synonym: "mitochondrial complex III deficiency, nuclear type 7; MC3DN7" RELATED [OMIM:615824]
synonym: "UQCC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080116 {source="MONDO:equivalentTo"}
xref: OMIM:615824 {source="MONDO:equivalentTo", source="DOID:0080116"}
xref: UMLS:C4014408 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080116
property_value: exactMatch http://identifiers.org/omim/615824
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014408

[Term]
id: MONDO:0014357
name: intellectual disability, autosomal dominant 24
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 24" EXACT [DOID:0070054]
synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [DOID:0070054]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1" EXACT [MONDO:design_pattern]
synonym: "DEAF1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 24" RELATED [MONDO:Lexical, OMIM:615828]
synonym: "mental retardation, autosomal dominant 24; MRD24" RELATED [OMIM:615828]
synonym: "mental retardation, autosomal dominant type 24" EXACT [MONDORULE:2, OMIM:615828]
synonym: "MRD24" EXACT [DOID:0070054, MONDO:Lexical, OMIM:615828]
xref: DOID:0070054 {source="MONDO:equivalentTo"}
xref: OMIM:615828 {source="DOID:0070054", source="MONDO:equivalentTo"}
xref: UMLS:C4014414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:615828", source="DOID:0070054", source="MONDO:Redundant", source="OMIM:615828"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070054
property_value: exactMatch http://identifiers.org/omim/615828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014414

[Term]
id: MONDO:0014358
name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:412069"}
synonym: "autosomal dominant mental retardation 25" EXACT [DOID:0070055]
synonym: "mental retardation, autosomal dominant 25" RELATED [OMIM:615829]
synonym: "MRD25" EXACT [DOID:0070055]
synonym: "Xia-Gibbs syndrome" EXACT [OMIM:615829, Orphanet:412069]
xref: DOID:0070055 {source="MONDO:equivalentTo"}
xref: EFO:0009015 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:412069", source="ORDO:412069/attributed", source="ORDO:412069/ntbt"}
xref: OMIM:615829 {source="Orphanet:412069", source="DOID:0070055", source="MONDO:equivalentTo", source="ORDO:412069/e"}
xref: Orphanet:412069 {source="MONDO:equivalentTo", source="OMIM:615829"}
xref: UMLS:C4014419 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="Orphanet:412069"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070055"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070055
property_value: exactMatch http://identifiers.org/omim/615829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014419
property_value: exactMatch Orphanet:412069

[Term]
id: MONDO:0014359
name: pigmented nodular adrenocortical disease, primary, 4
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTH-independent adrenal Cushing syndrome, somatic" RELATED [OMIM:615830]
synonym: "chromosome 19P13 Duplication syndrome" RELATED [OMIM:615830]
synonym: "Cushing syndrome, adrenal, due to Ppnad4" RELATED [OMIM:615830]
synonym: "pigmented nodular adrenocortical disease, primary, 4" EXACT [MONDO:Lexical, OMIM:615830]
synonym: "pigmented nodular adrenocortical disease, primary, 4; PPNAD4" RELATED [OMIM:615830]
synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MONDORULE:1, OMIM:615830]
synonym: "PPNAD4" RELATED [MONDO:Lexical, OMIM:615830]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" EXACT [MONDO:design_pattern]
synonym: "PRKACA primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615830 {source="MONDO:equivalentTo"}
xref: UMLS:C4014425 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015999 {source="DC-OMIM:615830", source="MONDO:Redundant", source="OMIM:615830"} ! primary pigmented nodular adrenocortical disease
property_value: closeMatch Orphanet:423668
property_value: exactMatch http://identifiers.org/omim/615830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014425

[Term]
id: MONDO:0014360
name: epileptic encephalopathy, early infantile, 21
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern]
synonym: "EIEE21" RELATED [MONDO:Lexical, OMIM:615833]
synonym: "epileptic encephalopathy, early infantile, 21" EXACT [MONDO:Lexical, OMIM:615833]
synonym: "epileptic encephalopathy, early infantile, 21; EIEE21" RELATED [OMIM:615833]
synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2, OMIM:615833]
synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615833 {source="MONDO:equivalentTo"}
xref: UMLS:C4014430 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/615833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014430

[Term]
id: MONDO:0014361
name: autism spectrum disorder due to AUTS2 deficiency
def: "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." [Orphanet:352490]
subset: ordo_disease {source="Orphanet:352490"}
synonym: "ASD due to AUTS2 deficiency" EXACT [Orphanet:352490]
synonym: "autosomal dominant mental retardation 26" EXACT [DOID:0070056]
synonym: "autosomal dominant non-syndromic intellectual disability 26" RELATED [DOID:0070056]
synonym: "AUTS2 syndrome" EXACT [Orphanet:352490]
synonym: "mental retardation, autosomal dominant 26" RELATED [MONDO:Lexical, OMIM:615834]
synonym: "mental retardation, autosomal dominant 26; MRD26" RELATED [OMIM:615834]
synonym: "mental retardation, autosomal dominant type 26" EXACT [MONDORULE:2, OMIM:615834]
synonym: "MRD26" EXACT [DOID:0070056, MONDO:Lexical, OMIM:615834]
xref: DOID:0070056 {source="MONDO:equivalentTo"}
xref: ICD10:F84.1 {source="MONDO:relatedTo", source="Orphanet:352490", source="ORDO:352490/attributed", source="ORDO:352490/ntbt"}
xref: OMIM:615834 {source="DOID:0070056", source="MONDO:equivalentTo", source="Orphanet:352490", source="ORDO:352490/e"}
xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"}
xref: UMLS:C4014435 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352490", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:352490"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070056"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070056
property_value: exactMatch http://identifiers.org/omim/615834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014435
property_value: exactMatch Orphanet:352490

[Term]
id: MONDO:0014362
name: chromosome 16 inversion, 0.45-Mb
synonym: "chromosome 16 inversion, 0.45-Mb" EXACT [OMIM:615835]
xref: OMIM:615835 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4014436
property_value: exactMatch http://identifiers.org/omim/615835

[Term]
id: MONDO:0014363
name: autosomal recessive nonsyndromic deafness 101
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 101" EXACT [DOID:0110462]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 101" EXACT [DOID:0110462, MONDORULE:2]
synonym: "deafness, autosomal recessive 101" RELATED [MONDO:Lexical, OMIM:615837]
synonym: "deafness, autosomal recessive 101; DFNB101" RELATED [OMIM:615837]
synonym: "deafness, autosomal recessive type 101" EXACT [MONDORULE:2, OMIM:615837]
synonym: "DFNB101" EXACT [DOID:0110462, MONDO:Lexical, OMIM:615837]
synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110462 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110462"}
xref: OMIM:615837 {source="MONDO:equivalentTo", source="DOID:0110462"}
xref: UMLS:C3892049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:615837", source="DOID:0110462", source="MONDO:Redundant", source="OMIM:615837"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110462
property_value: exactMatch http://identifiers.org/omim/615837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892049

[Term]
id: MONDO:0014364
name: mitochondrial complex III deficiency nuclear type 8
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LYRM7 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN8" RELATED [MONDO:Lexical, OMIM:615838]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [OMIM:615838]
synonym: "mitochondrial complex III deficiency caused by mutation in LYRM7" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical, OMIM:615838]
synonym: "mitochondrial complex III deficiency, nuclear type 8; MC3DN8" RELATED [OMIM:615838]
xref: DOID:0080117 {source="MONDO:equivalentTo"}
xref: OMIM:615838 {source="MONDO:equivalentTo", source="DOID:0080117"}
xref: UMLS:C4014440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080117
property_value: exactMatch http://identifiers.org/omim/615838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014440

[Term]
id: MONDO:0014365
name: spermatogenic failure 13
def: "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841]
synonym: "spermatogenic failure 13; SPGF13" RELATED [OMIM:615841]
synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841]
synonym: "SPGF13" RELATED [MONDO:Lexical, OMIM:615841]
synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070182 {source="MONDO:equivalentTo"}
xref: OMIM:615841 {source="MONDO:equivalentTo"}
xref: UMLS:C4014449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:615841", source="MONDO:Redundant", source="OMIM:615841"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070182
property_value: exactMatch http://identifiers.org/omim/615841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014449

[Term]
id: MONDO:0014366
name: spermatogenic failure 14
def: "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 14" EXACT [MONDO:Lexical, OMIM:615842]
synonym: "spermatogenic failure 14; SPGF14" RELATED [OMIM:615842]
synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842]
synonym: "SPGF14" RELATED [MONDO:Lexical, OMIM:615842]
synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070179 {source="MONDO:equivalentTo"}
xref: OMIM:615842 {source="MONDO:equivalentTo"}
xref: UMLS:C4014454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:615842", source="MONDO:Redundant", source="OMIM:615842"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070179
property_value: exactMatch http://identifiers.org/omim/615842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014454

[Term]
id: MONDO:0014367
name: Aicardi-Goutieres syndrome 7
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGS7" RELATED [MONDO:Lexical, OMIM:615846]
synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846]
synonym: "Aicardi-Goutieres syndrome 7; AGS7" RELATED [OMIM:615846]
synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846]
synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615846 {source="MONDO:equivalentTo"}
xref: UMLS:C3888244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018866 {source="DC-OMIM:615846", source="MONDO:Redundant", source="OMIM:615846"} ! Aicardi-Goutieres syndrome
property_value: exactMatch http://identifiers.org/omim/615846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888244

[Term]
id: MONDO:0014368
name: melanoma, cutaneous malignant, susceptibility to, 10
subset: predisposition
synonym: "CMM10" RELATED [MONDO:Lexical, OMIM:615848]
synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848]
synonym: "melanoma, cutaneous malignant, susceptibility to, 10; CMM10" RELATED [OMIM:615848]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848]
synonym: "susceptibility to cutaneous malignant melanoma 10" RELATED [OMIM:615848]
xref: OMIM:615848 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:615848"} ! familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4014476
property_value: exactMatch http://identifiers.org/omim/615848

[Term]
id: MONDO:0014369
name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
def: "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." [Orphanet:420584]
subset: ordo_malformation_syndrome {source="Orphanet:420584"}
synonym: "CJS" RELATED [MONDO:Lexical, OMIM:615849]
synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical, OMIM:615849]
synonym: "Culler-Jones syndrome; CJS" RELATED [OMIM:615849]
synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849]
synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849]
xref: DOID:0080328 {source="MONDO:equivalentTo"}
xref: GARD:0013349 {source="DOID:0080328"}
xref: ICD10:Q87.8 {source="Orphanet:420584", source="ORDO:420584/attributed", source="ORDO:420584/ntbt"}
xref: OMIM:615849 {source="Orphanet:420584", source="ORDO:420584/e", source="MONDO:equivalentTo", source="DOID:0080328"}
xref: Orphanet:420584 {source="MONDO:equivalentTo", source="OMIM:615849"}
xref: UMLS:C4014479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0080328"} ! autosomal dominant disease
is_a: MONDO:0017434 {source="Orphanet:420584"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019827 {source="Orphanet:420584"} ! disease associated with non-acquired combined pituitary hormone deficiency
property_value: exactMatch DOID:0080328
property_value: exactMatch http://identifiers.org/omim/615849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014479
property_value: exactMatch Orphanet:420584

[Term]
id: MONDO:0014370
name: pontocerebellar hypoplasia type 2E
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" EXACT [MONDO:design_pattern]
synonym: "PCH2E" RELATED [MONDO:Lexical, OMIM:615851]
synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical, OMIM:615851]
synonym: "pontocerebellar hypoplasia, type 2E; PCH2E" RELATED [OMIM:615851]
synonym: "VPS53 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060271 {source="MONDO:equivalentTo"}
xref: OMIM:615851 {source="MONDO:equivalentTo", source="DOID:0060271"}
xref: UMLS:C4014488 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016589 {source="ORDO:247198/btnt"} ! progressive cerebello-cerebral atrophy
is_a: MONDO:0020135 {source="DC-OMIM:615851", source="DOID:0060271", source="MONDO:Redundant", source="OMIM:615851"} ! pontocerebellar hypoplasia
property_value: exactMatch DOID:0060271
property_value: exactMatch http://identifiers.org/omim/615851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014488

[Term]
id: MONDO:0014371
name: early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:411986"}
synonym: "EIEE23" RELATED [MONDO:Lexical, OMIM:615859]
synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:411986]
synonym: "epileptic encephalopathy, early infantile, 23" RELATED [MONDO:Lexical, OMIM:615859]
synonym: "epileptic encephalopathy, early infantile, 23; EIEE23" RELATED [OMIM:615859]
synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2, OMIM:615859]
xref: ICD10:G40.4 {source="Orphanet:411986", source="ORDO:411986/attributed", source="ORDO:411986/ntbt"}
xref: OMIM:615859 {source="Orphanet:411986", source="ORDO:411986/e", source="MONDO:equivalentTo"}
xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"}
xref: UMLS:C4014492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:411986"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016021 {source="DC-OMIM:615859", source="OMIM:615859"} ! early infantile epileptic encephalopathy
is_a: MONDO:0020262 {source="Orphanet:411986"} ! nervous system anomaly with eye involvement
property_value: exactMatch http://identifiers.org/omim/615859
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014492
property_value: exactMatch Orphanet:411986

[Term]
id: MONDO:0014372
name: cone-rod dystrophy 19
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 19" EXACT [MONDO:Lexical, OMIM:615860]
synonym: "cone-rod dystrophy 19; CORD19" RELATED [OMIM:615860]
synonym: "cone-rod dystrophy caused by mutation in TTLL5" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 19" EXACT [DOID:0111025, MONDORULE:2, OMIM:615860]
synonym: "CORD19" EXACT [DOID:0111025, MONDO:Lexical, OMIM:615860]
synonym: "TTLL5 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111025 {source="MONDO:equivalentTo"}
xref: OMIM:615860 {source="MONDO:equivalentTo", source="DOID:0111025"}
xref: UMLS:C4014501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111025
property_value: exactMatch http://identifiers.org/omim/615860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014501

[Term]
id: MONDO:0014373
name: nephrotic syndrome, type 10
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EMP2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in EMP2" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 10" EXACT [MONDO:Lexical, OMIM:615861]
synonym: "nephrotic syndrome, type 10; NPHS10" RELATED [OMIM:615861]
synonym: "NPHS10" RELATED [MONDO:Lexical, OMIM:615861]
xref: OMIM:615861 {source="MONDO:equivalentTo"}
xref: UMLS:C4014507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/615861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014507

[Term]
id: MONDO:0014374
name: nephronophthisis 18
def: "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP83 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in CEP83" EXACT []
synonym: "nephronophthisis 18" EXACT [MONDO:Lexical, OMIM:615862]
synonym: "nephronophthisis 18; NPHP18" RELATED [OMIM:615862]
synonym: "nephronophthisis type 18" EXACT [DOID:0111125, MONDORULE:2, OMIM:615862]
synonym: "NPHP18" EXACT [DOID:0111125, MONDO:Lexical, OMIM:615862]
xref: DOID:0111125 {source="MONDO:equivalentTo"}
xref: OMIM:615862 {source="MONDO:equivalentTo", source="DOID:0111125"}
xref: UMLS:C3890591 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:615862", source="DOID:0111125", source="MONDO:Redundant", source="OMIM:615862"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111125
property_value: exactMatch http://identifiers.org/omim/615862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890591

[Term]
id: MONDO:0014375
name: congenital diarrhea 7 with exudative enteropathy
def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." [Orphanet:329242]
subset: ordo_disease {source="Orphanet:329242"}
synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242]
synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778]
synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern]
synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DIAR7" RELATED [MONDO:Lexical, OMIM:615863]
synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863]
synonym: "diarrhea 7; DIAR7" RELATED [OMIM:615863]
synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863]
xref: DOID:0060778 {source="MONDO:equivalentTo"}
xref: ICD10:P78.3 {source="ORDO:329242/attributed", source="ORDO:329242/ntbt", source="DOID:0060778", source="Orphanet:329242"}
xref: OMIM:615863 {source="MONDO:equivalentTo", source="ORDO:329242/e", source="DOID:0060778", source="Orphanet:329242"}
xref: Orphanet:329242 {source="OMIM:615863", source="MONDO:equivalentTo", source="DOID:0060778"}
xref: UMLS:C4014516 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000824 {source="DC-OMIM:615863", source="DOID:0060778", source="MONDO:Redundant", source="MONDOLEX:0014375", source="OMIM:615863"} ! congenital diarrhea
is_a: MONDO:0019126 {source="Orphanet:329242"} ! intractable diarrhea of infancy
property_value: exactMatch DOID:0060778
property_value: exactMatch http://identifiers.org/omim/615863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014516
property_value: exactMatch Orphanet:329242

[Term]
id: MONDO:0014376
name: intellectual disability, autosomal dominant 27
synonym: "autosomal dominant mental retardation 27" EXACT [DOID:0070057]
synonym: "autosomal dominant non-syndromic intellectual disability 27" RELATED [DOID:0070057]
synonym: "mental retardation, autosomal dominant 27" RELATED [MONDO:Lexical, OMIM:615866]
synonym: "mental retardation, autosomal dominant 27; MRD27" RELATED [OMIM:615866]
synonym: "mental retardation, autosomal dominant type 27" EXACT [MONDORULE:2, OMIM:615866]
synonym: "MRD27" EXACT [DOID:0070057, MONDO:Lexical, OMIM:615866]
xref: DOID:0070057 {source="MONDO:equivalentTo"}
xref: OMIM:615866 {source="DOID:0070057", source="MONDO:equivalentTo"}
xref: UMLS:C4014528 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015452 {source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070057"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070057
property_value: exactMatch http://identifiers.org/omim/615866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014528

[Term]
id: MONDO:0014377
name: epileptic encephalopathy, early infantile, 24
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern]
synonym: "EIEE24" RELATED [MONDO:Lexical, OMIM:615871]
synonym: "epileptic encephalopathy, early infantile, 24" EXACT [MONDO:Lexical, OMIM:615871]
synonym: "epileptic encephalopathy, early infantile, 24; EIEE24" RELATED [OMIM:615871]
synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2, OMIM:615871]
synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615871 {source="MONDO:equivalentTo"}
xref: UMLS:C4014531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/615871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014531

[Term]
id: MONDO:0014378
name: primary ciliary dyskinesia 29
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCNO primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD29" EXACT [DOID:0110600, MONDO:Lexical, OMIM:615872]
synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical, OMIM:615872]
synonym: "ciliary dyskinesia, primary, 29, without situs inversus" RELATED [OMIM:615872]
synonym: "ciliary dyskinesia, primary, 29; CILD29" RELATED [OMIM:615872]
synonym: "ciliary dyskinesia, primary, type 29" EXACT [MONDORULE:2, OMIM:615872]
synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [DOID:0110600]
synonym: "primary ciliary dyskinesia caused by mutation in CCNO" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 29" EXACT [DOID:0110600, MONDORULE:2]
xref: DOID:0110600 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110600"}
xref: OMIM:615872 {source="DOID:0110600", source="MONDO:equivalentTo"}
xref: UMLS:C4014534 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:615872", source="DOID:0110600", source="MONDO:Redundant", source="MONDOLEX:0014378", source="OMIM:615872"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110600
property_value: exactMatch http://identifiers.org/omim/615872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014534

[Term]
id: MONDO:0014379
name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13." [DOID:0070058]
subset: ordo_malformation_syndrome {source="Orphanet:404448"}
synonym: "ADNP syndrome" RELATED [GARD:0012931]
synonym: "autosomal dominant mental retardation 28" EXACT [DOID:0070058]
synonym: "Helsmoortel-VAN DER AA syndrome" RELATED [MONDO:Lexical, OMIM:615873]
synonym: "Helsmoortel-VAN DER AA syndrome; HVDAS" RELATED [OMIM:615873]
synonym: "HVDAS" EXACT [DOID:0070058, MONDO:Lexical, OMIM:615873]
synonym: "mental retardation, autosomal dominant 28" RELATED [OMIM:615873]
synonym: "MRD28" EXACT [DOID:0070058]
xref: DOID:0070058 {source="MONDO:equivalentTo"}
xref: GARD:0012931 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.0 {source="Orphanet:404448", source="ORDO:404448/attributed", source="ORDO:404448/ntbt"}
xref: OMIM:615873 {source="ORDO:404448/e", source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo"}
xref: Orphanet:404448 {source="OMIM:615873", source="MONDO:equivalentTo"}
xref: SCTID:766824003 {source="MONDO:equivalentTo"}
xref: UMLS:C4014538 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404448", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:404448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0070058
property_value: exactMatch http://identifiers.org/omim/615873
property_value: exactMatch http://identifiers.org/snomedct/766824003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014538
property_value: exactMatch Orphanet:404448

[Term]
id: MONDO:0014380
name: colobomatous microphthalmia-rhizomelic dysplasia syndrome
def: "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." [Orphanet:424099]
subset: ordo_malformation_syndrome {source="Orphanet:424099"}
synonym: "MCOPS14" RELATED [MONDO:Lexical, OMIM:615877]
synonym: "MCSKS" RELATED [OMIM:615877]
synonym: "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877]
synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877]
synonym: "microphthalmia, syndromic 14" RELATED [MONDO:Lexical, OMIM:615877]
synonym: "microphthalmia, syndromic 14; MCOPS14" RELATED [OMIM:615877]
synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2, OMIM:615877]
synonym: "microphthalmia-coloboma-rhizomelic skeletal dysplasia" EXACT [Orphanet:424099]
synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [OMIM:615877]
synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome; MCSKS" RELATED [OMIM:615877]
xref: ICD10:Q87.5 {source="ORDO:424099/attributed", source="ORDO:424099/ntbt", source="Orphanet:424099"}
xref: OMIM:615877 {source="MONDO:equivalentTo", source="ORDO:424099/e", source="Orphanet:424099"}
xref: Orphanet:424099 {source="MONDO:equivalentTo"}
xref: UMLS:C4014540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015329 {source="Orphanet:424099"} ! malformation syndrome with short stature
is_a: MONDO:0016073 {source="DC-OMIM:615877", source="MONDOLEX:0014380", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia
is_a: MONDO:0019697 {source="Orphanet:424099"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch http://identifiers.org/omim/615877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014540
property_value: exactMatch Orphanet:424099

[Term]
id: MONDO:0014381
name: cholestasis, progressive familial intrahepatic, 4
alt_id: MONDO:0018803
def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:480483"}
synonym: "cholestasis, progressive familial intrahepatic 4" RELATED [GARD:0009803]
synonym: "cholestasis, progressive familial intrahepatic, 4" EXACT [MONDO:Lexical, OMIM:615878]
synonym: "cholestasis, progressive familial intrahepatic, 4; PFIC4" RELATED [OMIM:615878]
synonym: "cholestasis, progressive familial intrahepatic, type 4" EXACT [MONDORULE:1, OMIM:615878]
synonym: "PFIC4" EXACT [MONDO:Lexical, OMIM:615878, Orphanet:480483]
synonym: "progressive familial intrahepatic cholestasis 4" RELATED [GARD:0009803]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in TJP2" EXACT [MONDO:design_pattern]
synonym: "progressive familial intrahepatic cholestasis type 4" EXACT []
synonym: "TJP2 deficit" EXACT [Orphanet:480483]
synonym: "TJP2 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070224 {source="MONDO:equivalentTo"}
xref: GARD:0009803 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: OMIM:615878 {source="MONDO:equivalentTo", source="DOID:0070224"}
xref: Orphanet:480483 {source="MONDO:equivalentTo", source="DOID:0070224"}
xref: UMLS:C2931067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN776838 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015762 {source="MONDO:Redundant", source="MONDOLEX:0014381", source="MONDOLEX:0018803", source="OMIM:615878", source="ORDO:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch DOID:0070224
property_value: exactMatch http://identifiers.org/omim/615878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776838
property_value: exactMatch Orphanet:480483

[Term]
id: MONDO:0014382
name: tall stature-intellectual disability-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:404443"}
synonym: "DNMT3A-related overgrowth syndrome" EXACT [Orphanet:404443]
synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [Orphanet:404443]
synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879]
synonym: "TATTON-BROWN-Rahman syndrome; TBRS" RELATED [OMIM:615879]
synonym: "TBRS" RELATED [MONDO:Lexical, OMIM:615879]
xref: ICD10:Q87.3 {source="Orphanet:404443", source="ORDO:404443/attributed", source="ORDO:404443/ntbt"}
xref: OMIM:615879 {source="MONDO:equivalentTo", source="Orphanet:404443", source="ORDO:404443/e"}
xref: Orphanet:404443 {source="MONDO:equivalentTo", source="OMIM:615879"}
xref: SCTID:768843007 {source="MONDO:equivalentTo"}
xref: UMLS:C4014545 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404443", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:404443"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/615879
property_value: exactMatch http://identifiers.org/snomedct/768843007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014545
property_value: exactMatch Orphanet:404443

[Term]
id: MONDO:0014383
name: myopathy, tubular aggregate, 2
def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, tubular aggregate, 2" EXACT [MONDO:Lexical, OMIM:615883]
synonym: "myopathy, tubular aggregate, 2; TAM2" RELATED [OMIM:615883]
synonym: "myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1, OMIM:615883]
synonym: "ORAI1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TAM2" RELATED [MONDO:Lexical, OMIM:615883]
synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:design_pattern]
xref: OMIM:615883 {source="MONDO:equivalentTo"}
xref: UMLS:C4014557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:615883", source="ORDO:2593/btnt"} ! tubular aggregate myopathy
property_value: exactMatch http://identifiers.org/omim/615883
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014557

[Term]
id: MONDO:0014384
name: hypotrichosis 12
def: "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis 12" EXACT [MONDO:Lexical, OMIM:615885]
synonym: "hypotrichosis 12; HYPT12" RELATED [OMIM:615885]
synonym: "hypotrichosis caused by mutation in RPL21" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 12" EXACT [DOID:0110709, MONDORULE:2, OMIM:615885]
synonym: "HYPT12" RELATED [MONDO:Lexical, OMIM:615885]
synonym: "hypt12" EXACT [DOID:0110709]
synonym: "RPL21 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110709 {source="MONDO:equivalentTo"}
xref: OMIM:615885 {source="MONDO:equivalentTo", source="DOID:0110709"}
xref: UMLS:C4014563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex
property_value: exactMatch DOID:0110709
property_value: exactMatch http://identifiers.org/omim/615885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014563

[Term]
id: MONDO:0014385
name: amelogenesis imperfecta hypomaturation type 2A5
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI2A5" EXACT [DOID:0110063, MONDO:Lexical, OMIM:615887]
synonym: "amelogenesis imperfecta caused by mutation in SLC24A4" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [DOID:0110063]
synonym: "amelogenesis imperfecta type IIA5" EXACT [DOID:0110063]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lexical, OMIM:615887]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5" RELATED [OMIM:615887]
synonym: "SLC24A4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110063 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110063"}
xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"}
xref: UMLS:C4014578 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015048 {source="MONDOLEX:0014385", source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: exactMatch DOID:0110063
property_value: exactMatch http://identifiers.org/omim/615887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014578

[Term]
id: MONDO:0014386
name: platelet-type bleeding disorder 18
def: "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." [Orphanet:420566]
subset: ordo_disease {source="Orphanet:420566"}
synonym: "BDPLT18" EXACT [DOID:0111051, MONDO:Lexical, OMIM:615888]
synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [DOID:0111051, Orphanet:420566]
synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051]
synonym: "bleeding disorder, platelet-type, 18" RELATED [MONDO:Lexical, OMIM:615888]
synonym: "bleeding disorder, platelet-type, 18; BDPLT18" RELATED [OMIM:615888]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2" EXACT [MONDO:design_pattern]
synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111051 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="Orphanet:420566", source="ORDO:420566/attributed", source="ORDO:420566/ntbt", source="DOID:0111051"}
xref: OMIM:615888 {source="Orphanet:420566", source="ORDO:420566/e", source="MONDO:equivalentTo", source="DOID:0111051"}
xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"}
xref: UMLS:C4014584 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017142 {source="Orphanet:420566"} ! hemorrhagic disorder due to a qualitative platelet defect
property_value: exactMatch DOID:0111051
property_value: exactMatch http://identifiers.org/omim/615888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014584
property_value: exactMatch Orphanet:420566

[Term]
id: MONDO:0014387
name: leukoencephalopathy, progressive, with ovarian failure
synonym: "leukoencephalopathy, progressive, with ovarian failure" EXACT [MONDO:Lexical, OMIM:615889]
synonym: "leukoencephalopathy, progressive, with ovarian failure; LKENP" RELATED [OMIM:615889]
synonym: "LKENP" RELATED [MONDO:Lexical, OMIM:615889]
xref: OMIM:615889 {source="MONDO:equivalentTo"}
xref: UMLS:C4014588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020506 {source="ORDO:99853/btnt"} ! ovarioleukodystrophy
property_value: exactMatch http://identifiers.org/omim/615889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014588

[Term]
id: MONDO:0014388
name: familial median cleft of the upper and lower lips
def: "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." [Orphanet:401942]
subset: ordo_malformation_syndrome {source="Orphanet:401942"}
synonym: "OFC14" RELATED [MONDO:Lexical, OMIM:615892]
synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892]
synonym: "orofacial cleft 14; OFC14" RELATED [OMIM:615892]
xref: ICD10:Q36.1 {source="Orphanet:401942", source="ORDO:401942/attributed", source="ORDO:401942/ntbt"}
xref: OMIM:615892 {source="ORDO:401942/e", source="Orphanet:401942", source="MONDO:equivalentTo"}
xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"}
is_a: MONDO:0000358 {source="DC-OMIM:615892"} ! orofacial cleft
is_a: MONDO:0015412 {source="Orphanet:401942"} ! median facial cleft
is_a: MONDO:0015961 {source="Orphanet:401942", source="Orphanet:401942/inferred"} ! genetic head and neck malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4014596
property_value: exactMatch http://identifiers.org/omim/615892
property_value: exactMatch Orphanet:401942

[Term]
id: MONDO:0014389
name: polyglucosan body myopathy 1 with or without immunodeficiency
synonym: "PGBM1" RELATED [MONDO:Lexical, OMIM:615895]
synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895]
synonym: "polyglucosan body myopathy 1 with or without immunodeficiency; PGBM1" RELATED [OMIM:615895]
synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" RELATED [OMIM:615895]
xref: OMIM:615895 {source="MONDO:equivalentTo"}
xref: UMLS:C4014605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000192 {source="DC-OMIM:615895", source="MONDOLEX:0014389", source="OMIM:615895"} ! polyglucosan body myopathy
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014605

[Term]
id: MONDO:0014390
name: hypotrichosis 13
def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896]
synonym: "hypotrichosis 13; HYPT13" RELATED [OMIM:615896]
synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896]
synonym: "hypotrichosis with woolly hair" EXACT [DOID:0110710, OMIM:615896]
synonym: "HYPT13" RELATED [MONDO:Lexical, OMIM:615896]
synonym: "hypt13" EXACT [DOID:0110710]
synonym: "KRT71 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110710 {source="MONDO:equivalentTo"}
xref: OMIM:615896 {source="DOID:0110710", source="MONDO:equivalentTo"}
xref: UMLS:C4014616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003037 {source="DC-OMIM:615896", source="DOID:0110710", source="MONDO:Redundant", source="OMIM:615896", source="indirect"} ! hypotrichosis
is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder
property_value: exactMatch DOID:0110710
property_value: exactMatch http://identifiers.org/omim/615896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014616

[Term]
id: MONDO:0014391
name: severe combined immunodeficiency due to CTPS1 deficiency
def: "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." [Orphanet:420573]
subset: ordo_disease {source="Orphanet:420573"}
synonym: "IMD24" RELATED [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency 24; IMD24" RELATED [OMIM:615897]
synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897]
synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573]
xref: ICD10:D81.2 {source="Orphanet:420573", source="ORDO:420573/attributed", source="ORDO:420573/ntbt"}
xref: OMIM:615897 {source="Orphanet:420573", source="ORDO:420573/e", source="MONDO:equivalentTo"}
xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"}
xref: SCTID:763623001 {source="MONDO:equivalentTo"}
xref: UMLS:C4014617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0044201 {source="Orphanet:420573"} ! T+ B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615897
property_value: exactMatch http://identifiers.org/snomedct/763623001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014617
property_value: exactMatch Orphanet:420573

[Term]
id: MONDO:0014392
name: epileptic encephalopathy, early infantile, 25
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0012901"}
synonym: "early infantile epileptic encephalopathy 25" RELATED [GARD:0012901]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC13A5" EXACT [MONDO:design_pattern]
synonym: "EIEE25" RELATED [MONDO:Lexical, OMIM:615905]
synonym: "epileptic encephalopathy, early infantile, 25" EXACT [MONDO:Lexical, OMIM:615905]
synonym: "epileptic encephalopathy, early infantile, 25; EIEE25" RELATED [OMIM:615905]
synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2, OMIM:615905]
synonym: "SLC13A5 deficiency" RELATED [GARD:0012901]
synonym: "SLC13A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0012901 {source="MONDO:equivalentTo"}
xref: OMIM:615905 {source="MONDO:equivalentTo"}
xref: UMLS:C4014621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/615905
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014621
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25 xsd:anyURI {source="GARD:0012901"}

[Term]
id: MONDO:0014393
name: lymphedema, hereditary, 1D
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hereditary lymphedema caused by mutation in VEGFC" EXACT [MONDO:design_pattern]
synonym: "LMPH1D" RELATED [MONDO:Lexical, OMIM:615907]
synonym: "lymphedema, hereditary, ID" RELATED [MONDO:Lexical, OMIM:615907]
synonym: "lymphedema, hereditary, ID; LMPH1D" RELATED [OMIM:615907]
synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4, OMIM:615907]
synonym: "VEGFC hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070209 {source="MONDO:equivalentTo"}
xref: OMIM:615907 {source="MONDO:equivalentTo"}
xref: UMLS:C4014628 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="MONDOLEX:0014393", source="OMIM:615907", source="ORDO:79452/btnt"} ! hereditary lymphedema
property_value: exactMatch DOID:0070209
property_value: exactMatch http://identifiers.org/omim/615907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014628

[Term]
id: MONDO:0014394
name: Diamond-Blackfan anemia 13
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DBA13" RELATED [MONDO:Lexical, OMIM:615909]
synonym: "Diamond-Blackfan anemia 13" EXACT [MONDO:Lexical, OMIM:615909]
synonym: "Diamond-Blackfan anemia 13; DBA13" RELATED [OMIM:615909]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS29" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909]
synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615909 {source="MONDO:equivalentTo"}
xref: UMLS:C4014641 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="DC-OMIM:615909", source="MONDO:Redundant", source="MONDOLEX:0014394", source="OMIM:615909"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/615909
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014641

[Term]
id: MONDO:0014395
name: FTDALS2
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [DOID:0060214, http://omim.org/entry/615911, PMID:24934289]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [DOID:0060214, MONDO:Lexical, OMIM:615911]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2; FTDALS2" RELATED [OMIM:615911]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2" EXACT [MONDORULE:1, OMIM:615911]
synonym: "FTDALS2" EXACT [MONDO:Lexical, OMIM:615911]
xref: DOID:0060214 {source="MONDO:equivalentTo"}
xref: OMIM:615911 {source="MONDO:equivalentTo", source="DOID:0060214"}
xref: UMLS:C4014648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 {source="MONDO:cjm"} ! FTDALS
property_value: exactMatch DOID:0060214
property_value: exactMatch http://identifiers.org/omim/615911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014648

[Term]
id: MONDO:0014396
name: dilated cardiomyopathy 1NN
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1NN" RELATED [MONDO:Lexical, OMIM:615916]
synonym: "cardiomyopathy, dilated, 1NN; CMD1NN" RELATED [OMIM:615916]
synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9, OMIM:615916]
synonym: "CMD1NN" EXACT [DOID:0110432, MONDO:Lexical, OMIM:615916]
synonym: "dilated cardiomyopathy type 1NN" EXACT [DOID:0110432, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in RAF1" EXACT [MONDO:design_pattern]
synonym: "RAF1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110432 {source="MONDO:equivalentTo"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110432"}
xref: OMIM:615916 {source="MONDO:equivalentTo", source="DOID:0110432"}
xref: UMLS:C4014656 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015470 {source="MONDO:Redundant"} ! familial isolated dilated cardiomyopathy
property_value: exactMatch DOID:0110432
property_value: exactMatch http://identifiers.org/omim/615916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014656

[Term]
id: MONDO:0014397
name: combined oxidative phosphorylation defect type 20
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:420728"}
synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917]
synonym: "combined oxidative phosphorylation deficiency 20; COXPD20" RELATED [OMIM:615917]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2, OMIM:615917]
synonym: "COXPD20" EXACT [MONDO:Lexical, OMIM:615917, Orphanet:420728]
synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD10:G31.8 {source="Orphanet:420728", source="ORDO:420728/attributed", source="ORDO:420728/ntbt"}
xref: OMIM:615917 {source="MONDO:equivalentTo", source="Orphanet:420728", source="ORDO:420728/e"}
xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"}
xref: UMLS:C4014660 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:615917", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:420728"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:420728"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/615917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014660
property_value: exactMatch Orphanet:420728

[Term]
id: MONDO:0014398
name: combined oxidative phosphorylation defect type 21
def: "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." [Orphanet:420733]
subset: ordo_disease {source="Orphanet:420733"}
synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical, OMIM:615918]
synonym: "combined oxidative phosphorylation deficiency 21; COXPD21" RELATED [OMIM:615918]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 21" EXACT [MONDORULE:2, OMIM:615918]
synonym: "COXPD21" EXACT [MONDO:Lexical, OMIM:615918, Orphanet:420733]
synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009032 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:420733/attributed", source="ORDO:420733/ntbt", source="Orphanet:420733"}
xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source="ORDO:420733/e"}
xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"}
xref: SCTID:763211004 {source="MONDO:equivalentTo"}
xref: UMLS:C4014668 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:615918", source="MONDO:Redundant", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="EFO:0009032", source="Orphanet:420733"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:420733"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/615918
property_value: exactMatch http://identifiers.org/snomedct/763211004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014668
property_value: exactMatch Orphanet:420733

[Term]
id: MONDO:0014399
name: PCNA-related progressive neurodegenerative photosensitivy syndrome
subset: ordo_disease {source="Orphanet:438134"}
synonym: "ataxia-telangiectasia-like disorder 2" RELATED [MONDO:Lexical, OMIM:615919]
synonym: "ataxia-telangiectasia-like disorder 2; ATLD2" RELATED [OMIM:615919]
synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1, OMIM:615919]
synonym: "ATLD2" RELATED [MONDO:Lexical, OMIM:615919]
synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [Orphanet:438134]
xref: ICD10:G11.3 {source="ORDO:438134/attributed", source="ORDO:438134/ntbt", source="Orphanet:438134"}
xref: OMIM:615919 {source="MONDO:equivalentTo", source="Orphanet:438134", source="ORDO:438134/e"}
xref: Orphanet:438134 {source="MONDO:equivalentTo"}
xref: UMLS:C4014676 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:438134"} ! syndromic intellectual disability
is_a: MONDO:0011457 {source="DC-OMIM:615919", source="OMIM:615919"} ! ataxia - telangiectasia-like disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:438134"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:438134"} ! progeroid syndrome
is_a: MONDO:0019589 {source="Orphanet:438134"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/615919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014676
property_value: exactMatch Orphanet:438134

[Term]
id: MONDO:0014400
name: retinitis pigmentosa 70
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PRPF4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 70" EXACT [MONDO:Lexical, OMIM:615922]
synonym: "retinitis pigmentosa 70; RP70" RELATED [OMIM:615922]
synonym: "retinitis pigmentosa caused by mutation in PRPF4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 70" EXACT [DOID:0110392, MONDORULE:2, OMIM:615922]
synonym: "RP70" EXACT [DOID:0110392, MONDO:Lexical, OMIM:615922]
xref: DOID:0110392 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110392"}
xref: OMIM:615922 {source="DOID:0110392", source="MONDO:equivalentTo"}
xref: UMLS:C4014681 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:615922", source="DOID:0110392", source="MONDO:Redundant", source="OMIM:615922"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110392
property_value: exactMatch http://identifiers.org/omim/615922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014681

[Term]
id: MONDO:0014401
name: tall stature-scoliosis-macrodactyly of the great toes syndrome
def: "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." [Orphanet:329191]
subset: ordo_disease {source="Orphanet:329191"}
synonym: "ECDM" RELATED [MONDO:Lexical, OMIM:615923]
synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM:615923]
synonym: "epiphyseal chondrodysplasia, MIURA type; ECDM" RELATED [OMIM:615923]
synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316]
synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191]
xref: DOID:0070316 {source="MONDO:equivalentTo"}
xref: OMIM:615923 {source="Orphanet:329191", source="ORDO:329191/e", source="MONDO:equivalentTo"}
xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"}
xref: UMLS:C4014690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019711 {source="Orphanet:329191"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch DOID:0070316
property_value: exactMatch http://identifiers.org/omim/615923
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014690
property_value: exactMatch Orphanet:329191

[Term]
id: MONDO:0014402
name: severe neurodegenerative syndrome with lipodystrophy
subset: ordo_disease {source="Orphanet:363400"}
synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924]
synonym: "encephalopathy, progressive, with or without lipodystrophy; PELD" RELATED [OMIM:615924]
synonym: "PELD" RELATED [MONDO:Lexical, OMIM:615924]
synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400]
xref: ICD10:G31.8 {source="ORDO:363400/attributed", source="ORDO:363400/ntbt", source="Orphanet:363400"}
xref: OMIM:615924 {source="ORDO:363400/e", source="MONDO:equivalentTo", source="Orphanet:363400"}
xref: Orphanet:363400 {source="MONDO:equivalentTo", source="OMIM:615924"}
xref: UMLS:C4014700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020087 {source="Orphanet:363400"} ! genetic lipodystrophy
is_a: MONDO:0024237 {source="Orphanet:363400"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/omim/615924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014700
property_value: exactMatch Orphanet:363400

[Term]
id: MONDO:0014403
name: short stature due to GHSR deficiency
def: "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." [Orphanet:314811]
subset: ordo_disease {source="Orphanet:314811"}
synonym: "GHDP" RELATED [MONDO:Lexical, OMIM:615925]
synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811]
synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925]
synonym: "growth hormone deficiency, isolated partial; GHDP" RELATED [OMIM:615925]
synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811]
xref: ICD10:E34.3 {source="Orphanet:314811", source="ORDO:314811/attributed", source="ORDO:314811/ntbt"}
xref: OMIM:615925 {source="ORDO:314811/e", source="Orphanet:314811", source="MONDO:equivalentTo"}
xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"}
xref: SCTID:766817004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019824 {source="Orphanet:314811"} ! non-acquired pituitary hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858656
property_value: exactMatch http://identifiers.org/omim/615925
property_value: exactMatch http://identifiers.org/snomedct/766817004
property_value: exactMatch Orphanet:314811

[Term]
id: MONDO:0014404
name: Webb-Dattani syndrome
synonym: "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" EXACT [Orphanet:370006]
synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" RELATED [OMIM:615926]
synonym: "Webb-Dattani syndrome" EXACT [MONDO:Lexical, OMIM:615926]
synonym: "WEBB-Dattani syndrome; WEDAS" RELATED [OMIM:615926]
synonym: "WEDAS" RELATED [MONDO:Lexical, OMIM:615926]
xref: OMIM:615926 {source="MONDO:equivalentTo"}
xref: Orphanet:370006 {source="MONDO:equivalentTo", source="OMIM:615926"}
xref: UMLS:C4014708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="Orphanet:370006/inferred"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014708
property_value: exactMatch Orphanet:370006

[Term]
id: MONDO:0014405
name: STING-associated vasculopathy with onset in infancy
def: "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." [Orphanet:425120]
subset: gard_rare {source="GARD:0012357"}
subset: ordo_disease {source="Orphanet:425120"}
synonym: "SAVI" EXACT [MONDO:Lexical, OMIM:615934, Orphanet:425120]
synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934]
synonym: "STING-associated vasculopathy, infantile-onset; SAVI" RELATED [OMIM:615934]
xref: GARD:0012357 {source="MONDO:equivalentTo"}
xref: ICD10:M35.8 {source="ORDO:425120/attributed", source="ORDO:425120/ntbt", source="Orphanet:425120"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:615934 {source="MONDO:equivalentTo", source="ORDO:425120/e", source="Orphanet:425120"}
xref: Orphanet:425120 {source="MONDO:equivalentTo"}
xref: SCTID:711164003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4014722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4040879 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015490 {source="Orphanet:425120"} ! predominantly small-vessel vasculitis
is_a: MONDO:0015710 {source="Orphanet:425120"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0017370 {source="Orphanet:425120"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0018782 {source="Orphanet:425120"} ! type 1 interferonopathy
property_value: exactMatch http://identifiers.org/omim/615934
property_value: exactMatch http://identifiers.org/snomedct/711164003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4040879
property_value: exactMatch Orphanet:425120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy xsd:anyURI {source="GARD:0012357"}

[Term]
id: MONDO:0014406
name: pancreatic agenesis 2
def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." [MONDO:design_pattern]
synonym: "PAGEN2" RELATED [MONDO:Lexical, OMIM:615935]
synonym: "pancreatic agenesis 2" EXACT [MONDO:Lexical, OMIM:615935]
synonym: "pancreatic agenesis 2; PAGEN2" RELATED [OMIM:615935]
synonym: "pancreatic agenesis caused by mutation in PTF1A" EXACT [MONDO:design_pattern]
synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1, OMIM:615935]
synonym: "pancreatic hypoplasia, congenital 2" RELATED [OMIM:615935]
synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615935 {source="MONDO:equivalentTo"}
xref: UMLS:C4014737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:615935", source="ORDO:2805/btnt"} ! pancreatic agenesis
property_value: exactMatch http://identifiers.org/omim/615935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014737

[Term]
id: MONDO:0014407
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2" RELATED [OMIM:615937]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern]
synonym: "MPPH2" RELATED [MONDO:Lexical, OMIM:615937]
xref: OMIM:615937 {source="MONDO:equivalentTo"}
xref: UMLS:C4014738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019375 {source="DC-OMIM:615937", source="MONDO:Redundant", source="MONDOLEX:0014407", source="OMIM:615937"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
property_value: exactMatch http://identifiers.org/omim/615937
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014738

[Term]
id: MONDO:0014408
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; MPPH3" RELATED [OMIM:615938]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern]
synonym: "MPPH3" RELATED [MONDO:Lexical, OMIM:615938]
xref: OMIM:615938 {source="MONDO:equivalentTo"}
xref: UMLS:C4014742 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019375 {source="DC-OMIM:615938", source="MONDO:Redundant", source="MONDOLEX:0014408", source="OMIM:615938"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
property_value: exactMatch http://identifiers.org/omim/615938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014742

[Term]
id: MONDO:0014409
name: intellectual disability, autosomal recessive 44
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 44" RELATED [MONDO:Lexical, OMIM:615942]
synonym: "mental retardation, autosomal recessive 44; MRT44" RELATED [OMIM:615942]
synonym: "mental retardation, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:615942]
synonym: "METTL23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MRT44" RELATED [MONDO:Lexical, OMIM:615942]
xref: OMIM:615942 {source="MONDO:equivalentTo"}
xref: UMLS:C4014745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:615942", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/615942
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014745

[Term]
id: MONDO:0014410
name: spinocerebellar ataxia type 37
def: "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements." [Orphanet:363710]
subset: ordo_disease {source="Orphanet:363710"}
synonym: "SCA37" EXACT [MONDO:Lexical, OMIM:615945, Orphanet:363710]
synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945]
synonym: "spinocerebellar ataxia 37; SCA37" RELATED [OMIM:615945]
synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710]
xref: DOID:0050984 {source="MONDO:equivalentTo"}
xref: GARD:0012368 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:363710/attributed", source="ORDO:363710/ntbt", source="Orphanet:363710"}
xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="ORDO:363710/e", source="Orphanet:363710"}
xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"}
xref: SCTID:719301002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3889636 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4304821 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="Orphanet:363710"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050984
property_value: exactMatch http://identifiers.org/omim/615945
property_value: exactMatch http://identifiers.org/snomedct/719301002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304821
property_value: exactMatch Orphanet:363710

[Term]
id: MONDO:0014411
name: myopia 24, autosomal dominant
synonym: "myopia 24, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615946]
synonym: "myopia 24, autosomal dominant; MYP24" RELATED [OMIM:615946]
synonym: "MYP24" RELATED [MONDO:Lexical, OMIM:615946]
xref: OMIM:615946 {source="MONDO:equivalentTo"}
xref: UMLS:C4014762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:615946", source="OMIM:615946"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/615946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014762

[Term]
id: MONDO:0014412
name: hyperlipoproteinemia, type 1D
def: "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_etiological_subtype
synonym: "familial hyperlipidemia caused by mutation in GPIHBP1" EXACT [MONDO:design_pattern]
synonym: "GPIHBP1 familial hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hyperlipoproteinemia, type ID" RELATED [OMIM:615947]
xref: OMIM:615947 {source="Orphanet:535458", source="MONDO:equivalentTo"}
xref: Orphanet:535458 {source="MONDO:equivalentTo"}
xref: UMLS:C4014767 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001336 {source="DC-OMIM:615947", source="indirect"} ! familial hyperlipidemia
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018637 {source="ORDO:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome
property_value: exactMatch http://identifiers.org/omim/615947
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014767
property_value: exactMatch Orphanet:535458

[Term]
id: MONDO:0014413
name: orofaciodigital syndrome type 14
def: "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." [Orphanet:434179]
subset: ordo_malformation_syndrome {source="Orphanet:434179"}
synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179]
synonym: "OFD14" EXACT [MONDO:Lexical, OMIM:615948, Orphanet:434179]
synonym: "oral-facial-digital syndrome type 14" EXACT [Orphanet:434179]
synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948]
synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern]
synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948]
synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948]
synonym: "orofaciodigital syndrome XIV; OFD14" RELATED [OMIM:615948]
xref: ICD10:Q87.0 {source="Orphanet:434179", source="ORDO:434179/inclusion", source="ORDO:434179/ntbt"}
xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="ORDO:434179/e"}
xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"}
xref: SCTID:763837007 {source="MONDO:equivalentTo"}
xref: UMLS:C4014780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:434179", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:434179"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015375 {source="DC-OMIM:615948", source="MONDO:Redundant", source="Orphanet:434179"} ! orofaciodigital syndrome
is_a: MONDO:0017119 {source="Orphanet:434179"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/615948
property_value: exactMatch http://identifiers.org/snomedct/763837007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014780
property_value: exactMatch Orphanet:434179

[Term]
id: MONDO:0014414
name: STAT3-related early-onset multisystem autoimmune disease
subset: ordo_disease {source="Orphanet:438159"}
synonym: "ADMIO" RELATED [MONDO:Lexical, OMIM:615952]
synonym: "ADMIO1" RELATED [OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset, 1; ADMIO1" RELATED [OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset; ADMIO" RELATED [OMIM:615952]
xref: ICD10:M35.8 {source="ORDO:438159/attributed", source="ORDO:438159/ntbt", source="Orphanet:438159"}
xref: OMIM:615952 {source="MONDO:equivalentTo", source="ORDO:438159/e", source="Orphanet:438159"}
xref: Orphanet:438159 {source="MONDO:equivalentTo"}
xref: UMLS:C4014795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000009 ! inherited bleeding disorder, platelet-type
is_a: MONDO:0000213 {source="DC-OMIM:615952", source="MONDOLEX:0014414", source="OMIM:615952"} ! autoimmune disease, multisystem, infantile-onset
is_a: MONDO:0002334 {source="OWLReasoner:2017", source="indirect"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0015939 {source="Orphanet:438159"} ! systemic autoimmune disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017979 ! autoimmune lymphoproliferative syndrome
is_a: MONDO:0019098 {source="Orphanet:438159"} ! autoimmune thrombocytopenia
is_a: MONDO:0020108 {source="Orphanet:438159"} ! autoimmune hemolytic anemia
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch http://identifiers.org/omim/615952
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014795
property_value: exactMatch Orphanet:438159

[Term]
id: MONDO:0014415
name: kallikrein, decreased urinary activity of
synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953]
xref: MESH:C563653 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615953 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:C563653/inferred"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835808
property_value: exactMatch http://identifiers.org/mesh/C563653
property_value: exactMatch http://identifiers.org/omim/615953

[Term]
id: MONDO:0014416
name: ACTH-independent macronodular adrenal hyperplasia 2
def: "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." [MONDO:design_pattern]
synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [MONDO:Lexical, OMIM:615954]
synonym: "ACTH-independent macronodular adrenal hyperplasia 2; AIMAH2" RELATED [OMIM:615954]
synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1, OMIM:615954]
synonym: "AIMAH2" RELATED [MONDO:Lexical, OMIM:615954]
synonym: "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" EXACT [MONDO:design_pattern]
synonym: "primary macronodular adrenal hyperplasia" RELATED [OMIM:615954]
xref: OMIM:615954 {source="MONDO:equivalentTo"}
xref: UMLS:C4014803 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009049 {source="MONDO:Redundant", source="MONDOLEX:0014416", source="ORDO:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia
property_value: exactMatch http://identifiers.org/omim/615954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014803

[Term]
id: MONDO:0014417
name: spinocerebellar ataxia type 38
def: "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." [Orphanet:423296]
subset: ordo_disease {source="Orphanet:423296"}
synonym: "SCA38" EXACT [MONDO:Lexical, OMIM:615957, Orphanet:423296]
synonym: "spinocerebellar ataxia 38" RELATED [MONDO:Lexical, OMIM:615957]
synonym: "spinocerebellar ataxia 38; SCA38" RELATED [OMIM:615957]
synonym: "spinocerebellar ataxia type 38" EXACT [MONDORULE:2, OMIM:615957]
xref: DOID:0050985 {source="MONDO:equivalentTo"}
xref: EFO:0009056 {source="MONDO:equivalentTo"}
xref: GARD:0012369 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.8 {source="ORDO:423296/attributed", source="ORDO:423296/ntbt", source="Orphanet:423296"}
xref: OMIM:615957 {source="MONDO:equivalentTo", source="DOID:0050985", source="ORDO:423296/e", source="Orphanet:423296"}
xref: Orphanet:423296 {source="MONDO:equivalentTo", source="OMIM:615957"}
xref: SCTID:734021001 {source="MONDO:equivalentTo"}
xref: UMLS:C4014812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4518337 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018118 {source="Orphanet:423296"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019793 {source="EFO:0009056", source="Orphanet:423296"} ! autosomal dominant cerebellar ataxia type III
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch DOID:0050985
property_value: exactMatch http://identifiers.org/omim/615957
property_value: exactMatch http://identifiers.org/snomedct/734021001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518337
property_value: exactMatch Orphanet:423296

[Term]
id: MONDO:0014418
name: myopathy, centronuclear, 5
def: "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern]
synonym: "CNM5" RELATED [MONDO:Lexical, OMIM:615959]
synonym: "myopathy, centronuclear, 5" EXACT [MONDO:Lexical, OMIM:615959]
synonym: "myopathy, centronuclear, 5; CNM5" RELATED [OMIM:615959]
synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959]
synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615959 {source="MONDO:equivalentTo"}
xref: UMLS:C4014814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015705 {source="MONDO:Redundant", source="ORDO:169186/btnt"} ! autosomal recessive centronuclear myopathy
property_value: exactMatch http://identifiers.org/omim/615959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014814

[Term]
id: MONDO:0014419
name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
def: "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." [Orphanet:370022]
subset: ordo_disease {source="Orphanet:370022"}
synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960]
synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022]
synonym: "PORETTI-Boltshauser syndrome; PTBHS" RELATED [OMIM:615960]
synonym: "PTBHS" RELATED [MONDO:Lexical, OMIM:615960]
xref: ICD10:G11.1 {source="ORDO:370022/attributed", source="ORDO:370022/ntbt", source="Orphanet:370022"}
xref: OMIM:615960 {source="ORDO:370022/e", source="MONDO:equivalentTo", source="Orphanet:370022"}
xref: Orphanet:370022 {source="OMIM:615960", source="MONDO:equivalentTo"}
xref: UMLS:C4014821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:370022"} ! syndromic intellectual disability
is_a: MONDO:0017118 {source="Orphanet:370022"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020258 {source="Orphanet:370022"} ! oculomotor apraxia or related oculomotor disease
property_value: exactMatch http://identifiers.org/omim/615960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014821
property_value: exactMatch Orphanet:370022

[Term]
id: MONDO:0014420
name: short stature due to primary acid-labile subunit deficiency
def: "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." [Orphanet:140941]
subset: ordo_disease {source="Orphanet:140941"}
synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961]
synonym: "acid-labile SUBUNIT deficiency; ACLSD" RELATED [OMIM:615961]
synonym: "ACLSD" RELATED [MONDO:Lexical, OMIM:615961]
xref: ICD10:E34.3 {source="ORDO:140941/attributed", source="ORDO:140941/ntbt", source="Orphanet:140941"}
xref: OMIM:615961 {source="MONDO:equivalentTo", source="Orphanet:140941", source="ORDO:140941/e"}
xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"}
xref: SCTID:721074002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C3900122 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015892 {source="Orphanet:140941"} ! growth hormone insensitivity syndrome
property_value: exactMatch http://identifiers.org/omim/615961
property_value: exactMatch http://identifiers.org/snomedct/721074002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3900122
property_value: exactMatch Orphanet:140941

[Term]
id: MONDO:0014421
name: glucocorticoid resistance
subset: gard_rare {source="GARD:0002499"}
subset: ordo_disease {source="Orphanet:786"}
synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [OMIM:615962]
synonym: "GCCR" RELATED [MONDO:Lexical, OMIM:615962]
synonym: "Gccr deficiency" RELATED [OMIM:615962]
synonym: "Gcr deficiency" RELATED [OMIM:615962]
synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962]
synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962]
synonym: "glucocorticoid resistance, generalized; GCCR" RELATED [OMIM:615962]
synonym: "Grl deficiency" RELATED [OMIM:615962]
xref: GARD:0002499 {source="MONDO:equivalentTo"}
xref: ICD10:E25.8 {source="Orphanet:786", source="ORDO:786/attributed", source="ORDO:786/ntbt"}
xref: MESH:C564221 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="ORDO:786/e"}
xref: Orphanet:786 {source="OMIM:615962", source="MONDO:equivalentTo"}
xref: UMLS:C1841972 {source="Orphanet:786", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015898 {source="Orphanet:786"} ! adrenogenital syndrome
is_a: MONDO:0019593 {source="Orphanet:786"} ! 46,XX disorder of sex development induced by fetal androgens excess
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841971
property_value: exactMatch http://identifiers.org/mesh/C564221
property_value: exactMatch http://identifiers.org/omim/615962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1841972
property_value: exactMatch Orphanet:786
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance xsd:anyURI {source="GARD:0002499"}

[Term]
id: MONDO:0014422
name: vesicoureteral reflux 8
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "TNXB vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in TNXB" EXACT []
synonym: "vesicoureteral reflux 8" EXACT [MONDO:Lexical, OMIM:615963]
synonym: "vesicoureteral reflux 8; VUR8" RELATED [OMIM:615963]
synonym: "vesicoureteral reflux type 8" EXACT [MONDORULE:1, OMIM:615963]
synonym: "VUR8" RELATED [MONDO:Lexical, OMIM:615963]
xref: OMIM:615963 {source="MONDO:equivalentTo"}
xref: UMLS:C4014831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017329 {source="ORDO:289365/btnt"} ! familial vesicoureteral reflux
property_value: exactMatch http://identifiers.org/omim/615963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014831

[Term]
id: MONDO:0014423
name: severe combined immunodeficiency due to DNA-PKcs deficiency
def: "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." [Orphanet:317425]
subset: ordo_disease {source="Orphanet:317425"}
synonym: "IMD26" RELATED [MONDO:Lexical, OMIM:615966]
synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966]
synonym: "immunodeficiency 26 with or without neurologic abnormalities; IMD26" RELATED [OMIM:615966]
synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425]
xref: ICD10:D81.1 {source="Orphanet:317425", source="ORDO:317425/attributed", source="ORDO:317425/ntbt"}
xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="ORDO:317425/e"}
xref: Orphanet:317425 {source="MONDO:equivalentTo", source="OMIM:615966"}
xref: SCTID:716871006 {source="MONDO:kboom-pr-1.00/0.81/11.85", source="MONDO:equivalentTo"}
xref: UMLS:C4014833 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017855 {source="Orphanet:317425"} ! T-B- severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/615966
property_value: exactMatch http://identifiers.org/snomedct/716871006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014833
property_value: exactMatch Orphanet:317425

[Term]
id: MONDO:0014424
name: congenital deficiency in alpha-fetoprotein
def: "Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." [Orphanet:168612]
subset: ordo_biological_anomaly {source="Orphanet:168612"}
synonym: "AFPD" RELATED [MONDO:Lexical, OMIM:615969]
synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969]
synonym: "ALPHA-fetoprotein deficiency; AFPD" RELATED [OMIM:615969]
xref: MESH:C566300 {source="MONDO:equivalentTo"}
xref: OMIM:615969 {source="ORDO:168612/e", source="MONDO:equivalentTo", source="Orphanet:168612"}
xref: Orphanet:168612 {source="MONDO:equivalentTo", source="OMIM:615969"}
xref: UMLS:C1863081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168612"}
is_a: MONDO:0003847 {source="MESH:C566300/inferred", source="Orphanet:168612"} ! Mendelian disease
is_a: MONDO:0018652 {source="Orphanet:168612"} ! biological anomaly without phenotypic characterization
property_value: exactMatch http://identifiers.org/mesh/C566300
property_value: exactMatch http://identifiers.org/omim/615969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863081
property_value: exactMatch Orphanet:168612

[Term]
id: MONDO:0014425
name: hereditary persistence of alpha-fetoprotein
def: "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" [Orphanet:168615]
subset: ordo_biological_anomaly {source="Orphanet:168615"}
synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970]
synonym: "ALPHA-fetoprotein, hereditary persistence OF; HPAFP" RELATED [OMIM:615970]
synonym: "HPAFP" RELATED [MONDO:Lexical, OMIM:615970]
xref: OMIM:615970 {source="MONDO:equivalentTo", source="Orphanet:168615", source="ORDO:168615/e"}
xref: Orphanet:168615 {source="MONDO:equivalentTo", source="OMIM:615970"}
xref: SCTID:716697002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0003847 {source="Orphanet:168615", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
is_a: MONDO:0018652 {source="Orphanet:168615"} ! biological anomaly without phenotypic characterization
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863080
property_value: exactMatch http://identifiers.org/omim/615970
property_value: exactMatch http://identifiers.org/snomedct/716697002
property_value: exactMatch Orphanet:168615

[Term]
id: MONDO:0014426
name: nanophthalmos 4
def: "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Nanophthalmia 4" RELATED [OMIM:615972]
synonym: "nanophthalmia caused by mutation in TMEM98" EXACT [MONDO:design_pattern]
synonym: "nanophthalmos 4" EXACT [MONDO:Lexical, OMIM:615972]
synonym: "nanophthalmos 4; NNO4" RELATED [OMIM:615972]
synonym: "nanophthalmos type 4" EXACT [MONDORULE:1, OMIM:615972]
synonym: "NNO4" RELATED [MONDO:Lexical, OMIM:615972]
synonym: "TMEM98 nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615972 {source="MONDO:equivalentTo"}
xref: UMLS:C4014848 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant"} ! nanophthalmia
property_value: exactMatch http://identifiers.org/omim/615972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014848

[Term]
id: MONDO:0014427
name: cone-rod dystrophy 20
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 20" EXACT [MONDO:Lexical, OMIM:615973]
synonym: "cone-rod dystrophy 20; CORD20" RELATED [OMIM:615973]
synonym: "cone-rod dystrophy caused by mutation in POC1B" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 20" EXACT [DOID:0111026, MONDORULE:2, OMIM:615973]
synonym: "CORD20" EXACT [DOID:0111026, MONDO:Lexical, OMIM:615973]
synonym: "POC1B cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111026 {source="MONDO:equivalentTo"}
xref: OMIM:615973 {source="MONDO:equivalentTo", source="DOID:0111026"}
xref: UMLS:C4014856 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch DOID:0111026
property_value: exactMatch http://identifiers.org/omim/615973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014856

[Term]
id: MONDO:0014428
name: autosomal recessive nonsyndromic deafness 102
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 102" EXACT [DOID:0110463]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 102" EXACT [DOID:0110463, MONDORULE:2]
synonym: "deafness, autosomal recessive 102" RELATED [MONDO:Lexical, OMIM:615974]
synonym: "deafness, autosomal recessive 102; DFNB102" RELATED [OMIM:615974]
synonym: "deafness, autosomal recessive type 102" EXACT [MONDORULE:2, OMIM:615974]
synonym: "DFNB102" EXACT [DOID:0110463, MONDO:Lexical, OMIM:615974]
synonym: "EPS8 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110463 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110463"}
xref: OMIM:615974 {source="MONDO:equivalentTo", source="DOID:0110463"}
xref: UMLS:C3892050 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:615974", source="DOID:0110463", source="MONDO:Redundant", source="OMIM:615974"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110463
property_value: exactMatch http://identifiers.org/omim/615974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892050

[Term]
id: MONDO:0014429
name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
def: "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319581]
subset: ordo_disease {source="Orphanet:319581"}
subset: predisposition
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT []
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581]
synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319581]
synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581]
synonym: "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IFNGR1 deficiency, autosomal dominant" RELATED [OMIM:615978]
synonym: "IMD27B" RELATED [MONDO:Lexical, OMIM:615978]
synonym: "immunodeficiency 27B" RELATED [MONDO:Lexical, OMIM:615978]
synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" RELATED [OMIM:615978]
synonym: "immunodeficiency 27B; IMD27B" RELATED [OMIM:615978]
synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978]
xref: ICD10:D84.8 {source="Orphanet:319581", source="ORDO:319581/attributed", source="ORDO:319581/ntbt"}
xref: OMIM:615978 {source="Orphanet:319581", source="ORDO:319581/e", source="MONDO:equivalentTo"}
xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"}
xref: UMLS:C4014863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017899 {source="Orphanet:319581"} ! autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://identifiers.org/omim/615978
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014863
property_value: exactMatch Orphanet:319581

[Term]
id: MONDO:0014430
name: intellectual disability, autosomal recessive 45
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31" EXACT [MONDO:design_pattern]
synonym: "FBXO31 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 45" RELATED [MONDO:Lexical, OMIM:615979]
synonym: "mental retardation, autosomal recessive 45; MRT45" RELATED [OMIM:615979]
synonym: "mental retardation, autosomal recessive type 45" EXACT [MONDORULE:2, OMIM:615979]
synonym: "MRT45" RELATED [MONDO:Lexical, OMIM:615979]
xref: OMIM:615979 {source="MONDO:equivalentTo"}
xref: UMLS:C4014864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:615979", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/615979
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014864

[Term]
id: MONDO:0014431
name: LIPE-related familial partial lipodystrophy
subset: gard_rare {source="GARD:0013126"}
subset: ordo_disease {source="Orphanet:435660"}
synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [DOID:0070206]
synonym: "familial partial lipodystrophy type 6" RELATED [DOID:0070206]
synonym: "FPLD6" EXACT [MONDO:Lexical, OMIM:615980, Orphanet:435660]
synonym: "LIPE-related FPLD" EXACT [Orphanet:435660]
synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [OMIM:615980]
synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980]
synonym: "lipodystrophy, familial partial, type 6; FPLD6" RELATED [OMIM:615980]
xref: DOID:0070206 {source="MONDO:equivalentTo"}
xref: GARD:0013126 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="ORDO:435660/attributed", source="ORDO:435660/ntbt", source="Orphanet:435660"}
xref: OMIM:615980 {source="MONDO:equivalentTo", source="ORDO:435660/e", source="Orphanet:435660"}
xref: Orphanet:435660 {source="MONDO:equivalentTo"}
xref: UMLS:C4014869 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0020088 {source="MONDOLEX:0014431", source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy
property_value: exactMatch DOID:0070206
property_value: exactMatch http://identifiers.org/omim/615980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014869
property_value: exactMatch Orphanet:435660
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy xsd:anyURI {source="GARD:0013126"}

[Term]
id: MONDO:0014432
name: Bardet-Biedl syndrome 2
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome" RELATED [GARD:0000821]
synonym: "Bardet-Biedl syndrome 2" EXACT [MONDO:Lexical, OMIM:615981]
synonym: "Bardet-Biedl syndrome 2; BBS2" RELATED [OMIM:615981]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS2" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 2" EXACT [DOID:0110124, MONDORULE:1, OMIM:615981]
synonym: "BBS" RELATED [GARD:0000821]
synonym: "BBS2" EXACT [DOID:0110124, GARD:0000821, MONDO:Lexical, OMIM:615981]
synonym: "BBS2 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110124 {source="MONDO:equivalentTo"}
xref: GARD:0000821 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110124"}
xref: MESH:C537910 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615981 {source="MONDO:equivalentTo", source="DOID:0110124"}
xref: UMLS:C2936863 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000821"}
is_a: MONDO:0014692 ! retinitis pigmentosa 74
is_a: MONDO:0015229 {source="DC-OMIM:615981", source="DOID:0110124", source="MESH:C537910", source="MONDO:Redundant", source="OMIM:615981"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110124
property_value: exactMatch http://identifiers.org/mesh/C537910
property_value: exactMatch http://identifiers.org/omim/615981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936863

[Term]
id: MONDO:0014433
name: Bardet-Biedl syndrome 4
subset: gard_rare {source="GARD:0000823"}
synonym: "Bardet-Biedl syndrome 4" EXACT [MONDO:Lexical, OMIM:615982]
synonym: "Bardet-Biedl syndrome 4; BBS4" RELATED [OMIM:615982]
synonym: "Bardet-Biedl syndrome type 4" EXACT [DOID:0110126, MONDORULE:1, OMIM:615982]
synonym: "BBS4" EXACT [DOID:0110126, MONDO:Lexical, OMIM:615982]
xref: DOID:0110126 {source="MONDO:equivalentTo"}
xref: EFO:0009024 {source="MONDO:equivalentTo"}
xref: GARD:0000823 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110126"}
xref: MESH:C537912 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615982 {source="DOID:0110126", source="MONDO:equivalentTo"}
xref: UMLS:C2936864 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615982", source="DOID:0110126", source="EFO:0009024", source="MESH:C537912", source="OMIM:615982"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110126
property_value: exactMatch http://identifiers.org/mesh/C537912
property_value: exactMatch http://identifiers.org/omim/615982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936864
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 xsd:anyURI {source="GARD:0000823"}

[Term]
id: MONDO:0014434
name: Bardet-Biedl syndrome 5
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010204"}
synonym: "Bardet-Biedl syndrome 5" EXACT [MONDO:Lexical, OMIM:615983]
synonym: "Bardet-Biedl syndrome 5; BBS5" RELATED [OMIM:615983]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS5" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 5" EXACT [DOID:0110127, MONDORULE:1, OMIM:615983]
synonym: "BBS5" EXACT [DOID:0110127, MONDO:Lexical, OMIM:615983]
synonym: "BBS5 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110127 {source="MONDO:equivalentTo"}
xref: EFO:0009025 {source="MONDO:equivalentTo"}
xref: GARD:0010204 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110127"}
xref: OMIM:615983 {source="DOID:0110127", source="MONDO:equivalentTo"}
xref: UMLS:C3892039 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615983", source="DOID:0110127", source="EFO:0009025", source="MONDO:Redundant", source="OMIM:615983"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110127
property_value: exactMatch http://identifiers.org/omim/615983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892039
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 xsd:anyURI {source="GARD:0010204"}

[Term]
id: MONDO:0014435
name: Bardet-Biedl syndrome 7
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010206"}
synonym: "Bardet-Biedl syndrome 7" EXACT [MONDO:Lexical, OMIM:615984]
synonym: "Bardet-Biedl syndrome 7; BBS7" RELATED [OMIM:615984]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS7" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 7" EXACT [DOID:0110129, MONDORULE:1, OMIM:615984]
synonym: "BBS7" EXACT [DOID:0110129, MONDO:Lexical, OMIM:615984]
synonym: "BBS7 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110129 {source="MONDO:equivalentTo"}
xref: EFO:0009026 {source="MONDO:equivalentTo"}
xref: GARD:0010206 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110129"}
xref: MESH:C565916 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615984 {source="DOID:0110129", source="MONDO:equivalentTo"}
xref: UMLS:C1859565 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615984", source="DOID:0110129", source="EFO:0009026", source="MESH:C565916", source="MONDO:Redundant", source="OMIM:615984"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110129
property_value: exactMatch http://identifiers.org/mesh/C565916
property_value: exactMatch http://identifiers.org/omim/615984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859565
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 xsd:anyURI {source="GARD:0010206"}

[Term]
id: MONDO:0014436
name: Bardet-Biedl syndrome 8
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010207"}
synonym: "Bardet-Biedl syndrome 8" EXACT [MONDO:Lexical, OMIM:615985]
synonym: "Bardet-Biedl syndrome 8; BBS8" RELATED [OMIM:615985]
synonym: "Bardet-Biedl syndrome caused by mutation in TTC8" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 8" EXACT [DOID:0110130, MONDORULE:1, OMIM:615985]
synonym: "BBS8" EXACT [DOID:0110130, MONDO:Lexical, OMIM:615985]
synonym: "TTC8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110130 {source="MONDO:equivalentTo"}
xref: GARD:0010207 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110130"}
xref: MESH:C565917 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615985 {source="MONDO:equivalentTo", source="DOID:0110130"}
xref: UMLS:C1859566 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615985", source="DOID:0110130", source="MESH:C565917", source="MONDO:Redundant", source="OMIM:615985"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110130
property_value: exactMatch http://identifiers.org/mesh/C565917
property_value: exactMatch http://identifiers.org/omim/615985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859566
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 xsd:anyURI {source="GARD:0010207"}

[Term]
id: MONDO:0014437
name: Bardet-Biedl syndrome 9
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0010208"}
synonym: "Bardet-Biedl syndrome 9" EXACT [MONDO:Lexical, OMIM:615986]
synonym: "Bardet-Biedl syndrome 9; BBS9" RELATED [OMIM:615986]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS9" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 9" EXACT [DOID:0110131, MONDORULE:1, OMIM:615986]
synonym: "BBS9" EXACT [DOID:0110131, MONDO:Lexical, OMIM:615986]
synonym: "BBS9 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110131 {source="MONDO:equivalentTo"}
xref: EFO:0009027 {source="MONDO:equivalentTo"}
xref: GARD:0010208 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110131"}
xref: MESH:C565918 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615986 {source="MONDO:equivalentTo", source="DOID:0110131"}
xref: UMLS:C1859567 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="EFO:0009027", source="MESH:C565918", source="MONDO:Redundant", source="OMIM:615986"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110131
property_value: exactMatch http://identifiers.org/mesh/C565918
property_value: exactMatch http://identifiers.org/omim/615986
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859567
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 xsd:anyURI {source="GARD:0010208"}

[Term]
id: MONDO:0014438
name: Bardet-Biedl syndrome 10
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 10" EXACT [MONDO:Lexical, OMIM:615987]
synonym: "Bardet-Biedl syndrome 10; BBS10" RELATED [OMIM:615987]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS10" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 10" EXACT [DOID:0110132, MONDORULE:2, OMIM:615987]
synonym: "BBS10" EXACT [DOID:0110132, MONDO:Lexical, OMIM:615987]
synonym: "BBS10 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110132 {source="MONDO:equivalentTo"}
xref: EFO:0009022 {source="MONDO:equivalentTo"}
xref: GARD:0010209 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110132"}
xref: MESH:C565919 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615987 {source="MONDO:equivalentTo", source="DOID:0110132"}
xref: UMLS:C1859568 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="EFO:0009022", source="MESH:C565919", source="MONDO:Redundant", source="OMIM:615987"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110132
property_value: exactMatch http://identifiers.org/mesh/C565919
property_value: exactMatch http://identifiers.org/omim/615987
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859568

[Term]
id: MONDO:0014439
name: Bardet-Biedl syndrome 11
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 11" EXACT [MONDO:Lexical, OMIM:615988]
synonym: "Bardet-Biedl syndrome 11; BBS11" RELATED [OMIM:615988]
synonym: "Bardet-Biedl syndrome caused by mutation in TRIM32" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 11" EXACT [DOID:0110133, MONDORULE:2, OMIM:615988]
synonym: "BBS11" EXACT [DOID:0110133, MONDO:Lexical, OMIM:615988]
synonym: "TRIM32 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110133 {source="MONDO:equivalentTo"}
xref: GARD:0010210 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110133"}
xref: MESH:C565920 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615988 {source="MONDO:equivalentTo", source="DOID:0110133"}
xref: UMLS:C1859569 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615988", source="DOID:0110133", source="MESH:C565920", source="MONDO:Redundant", source="OMIM:615988"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110133
property_value: exactMatch http://identifiers.org/mesh/C565920
property_value: exactMatch http://identifiers.org/omim/615988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859569

[Term]
id: MONDO:0014440
name: Bardet-Biedl syndrome 12
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 12" EXACT [MONDO:Lexical, OMIM:615989]
synonym: "Bardet-Biedl syndrome 12; BBS12" RELATED [OMIM:615989]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS12" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 12" EXACT [DOID:0110134, MONDORULE:2, OMIM:615989]
synonym: "BBS12" EXACT [DOID:0110134, MONDO:Lexical, OMIM:615989]
synonym: "BBS12 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110134 {source="MONDO:equivalentTo"}
xref: EFO:0009023 {source="MONDO:equivalentTo"}
xref: GARD:0010211 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110134"}
xref: MESH:C565921 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615989 {source="MONDO:equivalentTo", source="DOID:0110134"}
xref: UMLS:C1859570 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615989", source="DOID:0110134", source="EFO:0009023", source="MESH:C565921", source="MONDO:Redundant", source="OMIM:615989"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110134
property_value: exactMatch http://identifiers.org/mesh/C565921
property_value: exactMatch http://identifiers.org/omim/615989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859570

[Term]
id: MONDO:0014441
name: Bardet-Biedl syndrome 13
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 13" EXACT [MONDO:Lexical, OMIM:615990]
synonym: "Bardet-Biedl syndrome 13; BBS13" RELATED [OMIM:615990]
synonym: "Bardet-Biedl syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 13" EXACT [DOID:0110135, MONDORULE:2, OMIM:615990]
synonym: "BBS13" EXACT [DOID:0110135, MONDO:Lexical, OMIM:615990]
synonym: "MKS1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110135 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110135"}
xref: MESH:C567140 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615990 {source="MONDO:equivalentTo", source="DOID:0110135"}
xref: UMLS:C2673873 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615990", source="DOID:0110135", source="MESH:C567140", source="MONDO:Redundant", source="OMIM:615990"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110135
property_value: exactMatch http://identifiers.org/mesh/C567140
property_value: exactMatch http://identifiers.org/omim/615990
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673873

[Term]
id: MONDO:0014442
name: Bardet-Biedl syndrome 14
def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." [DOID:0110136, PMID:18327255]
subset: clingen
synonym: "Bardet-Biedl syndrome 14" EXACT [MONDO:Lexical, OMIM:615991]
synonym: "Bardet-Biedl syndrome 14; BBS14" RELATED [OMIM:615991]
synonym: "Bardet-Biedl syndrome type 14" EXACT [DOID:0110136, MONDORULE:2, OMIM:615991]
synonym: "BBS14" EXACT [DOID:0110136, MONDO:Lexical, OMIM:615991]
xref: DOID:0110136 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110136"}
xref: MESH:C567141 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:615991 {source="MONDO:equivalentTo", source="DOID:0110136"}
xref: UMLS:C2673874 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615991", source="DOID:0110136", source="MESH:C567141", source="MONDO:Redundant", source="OMIM:615991"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110136
property_value: exactMatch http://identifiers.org/mesh/C567141
property_value: exactMatch http://identifiers.org/omim/615991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673874

[Term]
id: MONDO:0014443
name: Bardet-Biedl syndrome 15
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 15" EXACT [MONDO:Lexical, OMIM:615992]
synonym: "Bardet-Biedl syndrome 15; BBS15" RELATED [OMIM:615992]
synonym: "Bardet-Biedl syndrome caused by mutation in WDPCP" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 15" EXACT [DOID:0110137, MONDORULE:2, OMIM:615992]
synonym: "BBS15" EXACT [DOID:0110137, MONDO:Lexical, OMIM:615992]
synonym: "WDPCP Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110137 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110137"}
xref: OMIM:615992 {source="DOID:0110137", source="MONDO:equivalentTo"}
xref: UMLS:C3150127 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615992", source="DOID:0110137", source="MONDO:Redundant", source="OMIM:615992"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110137
property_value: exactMatch http://identifiers.org/omim/615992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150127

[Term]
id: MONDO:0014444
name: Bardet-Biedl syndrome 16
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "Bardet-Biedl syndrome 16" EXACT [MONDO:Lexical, OMIM:615993]
synonym: "Bardet-Biedl syndrome 16; BBS16" RELATED [OMIM:615993]
synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993]
synonym: "BBS16" EXACT [DOID:0110138, MONDO:Lexical, OMIM:615993]
synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110138 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110138"}
xref: OMIM:615993 {source="DOID:0110138", source="MONDO:equivalentTo"}
xref: UMLS:C3889474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615993", source="DOID:0110138", source="MONDO:Redundant", source="OMIM:615993"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110138
property_value: exactMatch http://identifiers.org/omim/615993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889474

[Term]
id: MONDO:0014445
name: Bardet-Biedl syndrome 17
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 17" EXACT [MONDO:Lexical, OMIM:615994]
synonym: "Bardet-Biedl syndrome 17; BBS17" RELATED [OMIM:615994]
synonym: "Bardet-Biedl syndrome caused by mutation in LZTFL1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 17" EXACT [DOID:0110139, MONDORULE:2, OMIM:615994]
synonym: "BBS17" EXACT [DOID:0110139, MONDO:Lexical, OMIM:615994]
synonym: "LZTFL1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110139 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110139"}
xref: OMIM:615994 {source="DOID:0110139", source="MONDO:equivalentTo"}
xref: UMLS:C3714980 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615994", source="DOID:0110139", source="MONDO:Redundant", source="OMIM:615994"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110139
property_value: exactMatch http://identifiers.org/omim/615994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714980

[Term]
id: MONDO:0014446
name: Bardet-Biedl syndrome 18
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 18" EXACT [MONDO:Lexical, OMIM:615995]
synonym: "Bardet-Biedl syndrome 18; BBS18" RELATED [OMIM:615995]
synonym: "Bardet-Biedl syndrome caused by mutation in BBIP1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 18" EXACT [DOID:0110140, MONDORULE:2, OMIM:615995]
synonym: "BBIP1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BBS18" EXACT [DOID:0110140, MONDO:Lexical, OMIM:615995]
xref: DOID:0110140 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110140"}
xref: OMIM:615995 {source="MONDO:equivalentTo", source="DOID:0110140"}
xref: UMLS:C3806174 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615995", source="DOID:0110140", source="MONDO:Redundant", source="OMIM:615995"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110140
property_value: exactMatch http://identifiers.org/omim/615995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806174

[Term]
id: MONDO:0014447
name: Bardet-Biedl syndrome 19
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 19" EXACT [MONDO:Lexical, OMIM:615996]
synonym: "Bardet-Biedl syndrome 19; BBS19" RELATED [OMIM:615996]
synonym: "Bardet-Biedl syndrome caused by mutation in IFT27" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 19" EXACT [DOID:0110141, MONDORULE:2, OMIM:615996]
synonym: "BBS19" EXACT [DOID:0110141, MONDO:Lexical, OMIM:615996]
synonym: "IFT27 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110141 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.89 {source="DOID:0110141"}
xref: OMIM:615996 {source="MONDO:equivalentTo", source="DOID:0110141"}
xref: UMLS:C3889475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:615996", source="DOID:0110141", source="MONDO:Redundant", source="OMIM:615996"} ! Bardet-Biedl syndrome
property_value: exactMatch DOID:0110141
property_value: exactMatch http://identifiers.org/omim/615996
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889475

[Term]
id: MONDO:0014448
name: hyperthyroxinemia, familial dysalbuminemic
def: "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." [MESH:D050010]
synonym: "euthyroid hyperthyroxinemia 1" RELATED [OMIM:615999]
synonym: "familial Dysalbuminemic hyperthyroidism" EXACT [NCIT:C131813]
synonym: "familial Dysalbuminemic hyperthyroxinemia" EXACT [NCIT:C131813]
synonym: "FDAH" RELATED [MONDO:Lexical, OMIM:615999]
synonym: "FDH" RELATED [OMIM:615999]
synonym: "hyperthyroxinemia, familial Dysalbuminemic" EXACT [MONDO:Lexical, OMIM:615999]
synonym: "hyperthyroxinemia, familial dysalbuminemic; FDAH" RELATED [OMIM:615999]
xref: MESH:D050010 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131813 {source="MONDO:equivalentTo"}
xref: OMIM:615999 {source="MONDO:equivalentTo"}
xref: SCTID:237547004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0003847 {source="MESH:D050010"} ! Mendelian disease
is_a: MONDO:0004425 {source="NCIT:C131813", source="linkedlifedata"} ! hyperthyroidism
is_a: MONDO:0005333 {source="MESH:D050010"} ! hyperthyroxinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342185
property_value: closeMatch Orphanet:276271
property_value: exactMatch http://identifiers.org/mesh/D050010
property_value: exactMatch http://identifiers.org/omim/615999
property_value: exactMatch http://identifiers.org/snomedct/237547004
property_value: exactMatch NCIT:C131813

[Term]
id: MONDO:0014449
name: congenital analbuminemia
def: "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." [Orphanet:86816]
subset: gard_rare {source="GARD:0013056"}
subset: ordo_disease {source="Orphanet:86816"}
synonym: "ANALBA" RELATED [MONDO:Lexical, OMIM:616000]
synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000]
synonym: "analbuminemia; ANALBA" RELATED [OMIM:616000]
xref: GARD:0013056 {source="MONDO:equivalentTo"}
xref: ICD10:R77.0 {source="ORDO:86816/attributed", source="ORDO:86816/ntbt", source="Orphanet:86816"}
xref: NCIT:C124851 {source="MONDO:equivalentTo"}
xref: OMIM:616000 {source="MONDO:equivalentTo", source="ORDO:86816/e", source="Orphanet:86816"}
xref: Orphanet:86816 {source="MONDO:equivalentTo", source="OMIM:616000"}
xref: SCTID:718721006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4305253 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="Orphanet:86816"} ! hematologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878666
property_value: exactMatch http://identifiers.org/omim/616000
property_value: exactMatch http://identifiers.org/snomedct/718721006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305253
property_value: exactMatch NCIT:C124851
property_value: exactMatch Orphanet:86816
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia xsd:anyURI {source="GARD:0013056"}

[Term]
id: MONDO:0014450
name: breasts and/or nipples, aplasia or hypoplasia of, 2
def: "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BNAH2" RELATED [MONDO:Lexical, OMIM:616001]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2; BNAH2" RELATED [OMIM:616001]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001]
synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern]
synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616001 {source="MONDO:equivalentTo"}
xref: UMLS:C4014918 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="ORDO:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia
property_value: exactMatch http://identifiers.org/omim/616001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014918

[Term]
id: MONDO:0014451
name: focal segmental glomerulosclerosis 7
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 7" EXACT [MONDO:Lexical, OMIM:616002]
synonym: "focal segmental glomerulosclerosis 7; FSGS7" RELATED [OMIM:616002]
synonym: "focal segmental glomerulosclerosis caused by mutation in PAX2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 7" EXACT [DOID:0111132, MONDORULE:1, OMIM:616002]
synonym: "FSGS7" EXACT [DOID:0111132, MONDO:Lexical, OMIM:616002]
synonym: "glomerulosclerosis, focal segmental, 7" RELATED [OMIM:616002]
synonym: "PAX2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111132 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111132"}
xref: OMIM:616002 {source="MONDO:equivalentTo", source="DOID:0111132"}
xref: UMLS:C4014925 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="DC-OMIM:616002", source="DOID:0111132", source="MONDO:Redundant", source="MONDOLEX:0014451", source="OMIM:616002"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111132
property_value: exactMatch http://identifiers.org/omim/616002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014925

[Term]
id: MONDO:0014452
name: familial dysfibrinogenemia
def: "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." [Orphanet:98881]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:98881"}
synonym: "congenital dysfibrinogenemia" RELATED [GARD:0002004]
synonym: "dysfibrinogenemia" EXACT [NCIT:C131659]
synonym: "dysfibrinogenemia, congenital" RELATED [OMIM:616004]
synonym: "dysfibrinogenemia, familial" RELATED [GARD:0002004]
synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004]
synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004]
xref: GARD:0002004 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="ORDO:98881/attributed", source="ORDO:98881/ntbt", source="Orphanet:98881"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C131659 {source="MONDO:equivalentTo"}
xref: OMIM:616004 {source="GARD:0002004", source="MONDO:equivalentTo", source="ORDO:98881/e", source="Orphanet:98881"}
xref: Orphanet:98881 {source="OMIM:616004", source="GARD:0002004", source="MONDO:equivalentTo"}
xref: SCTID:111589005 {source="MONDO:equivalentTo"}
xref: UMLS:C1260903 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C131659", source="MONDO:equivalentTo"}
xref: UMLS:CN207171 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018060 {source="Orphanet:98881"} ! congenital fibrinogen deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272350
property_value: exactMatch http://identifiers.org/omim/616004
property_value: exactMatch http://identifiers.org/snomedct/111589005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207171
property_value: exactMatch NCIT:C131659
property_value: exactMatch Orphanet:98881
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia xsd:anyURI {source="GARD:0002004"}

[Term]
id: MONDO:0014453
name: immunodeficiency 36
synonym: "IMD36" RELATED [MONDO:Lexical, OMIM:616005]
synonym: "immunodeficiency 36" EXACT [MONDO:Lexical, OMIM:616005]
synonym: "immunodeficiency 36; IMD36" RELATED [OMIM:616005]
synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005]
xref: OMIM:616005 {source="MONDO:equivalentTo"}
xref: UMLS:C4014934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018338 {source="ORDO:397596/btnt"} ! activated PI3K-delta syndrome
property_value: exactMatch http://identifiers.org/omim/616005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014934

[Term]
id: MONDO:0014454
name: Hennekam lymphangiectasia-lymphedema syndrome 2
def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2; HKLLS2" RELATED [OMIM:616006]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006]
synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern]
synonym: "HKLLS2" RELATED [MONDO:Lexical, OMIM:616006]
xref: OMIM:616006 {source="MONDO:equivalentTo"}
xref: UMLS:C4014939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant"} ! Hennekam syndrome
property_value: exactMatch http://identifiers.org/omim/616006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014939

[Term]
id: MONDO:0014455
name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
subset: ordo_disease {source="Orphanet:436174"}
synonym: "CAGSSS" EXACT [MONDO:Lexical, OMIM:616007, Orphanet:436174]
synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007]
synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia; CAGSSS" RELATED [OMIM:616007]
xref: ICD10:Q87.8 {source="ORDO:436174/attributed", source="ORDO:436174/ntbt", source="Orphanet:436174"}
xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="ORDO:436174/e"}
xref: Orphanet:436174 {source="MONDO:equivalentTo"}
xref: UMLS:C4014942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015514 {source="Orphanet:436174"} ! genetic endocrine growth disease
is_a: MONDO:0016133 {source="Orphanet:436174"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016761 {source="Orphanet:436174"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018157 {source="Orphanet:436174"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:436174"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:436174"} ! syndromic genetic deafness
is_a: MONDO:0019590 {source="Orphanet:436174"} ! rare endocrine growth disease
is_a: MONDO:0020225 {source="Orphanet:436174"} ! syndromic cataract
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/616007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014942
property_value: exactMatch Orphanet:436174

[Term]
id: MONDO:0014456
name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
subset: ordo_disease {source="Orphanet:423384"}
synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022]
synonym: "neutropenia, severe congenital, 6, autosomal recessive; SCN6" RELATED [OMIM:616022]
synonym: "SCN6" RELATED [MONDO:Lexical, OMIM:616022]
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:423384/attributed", source="ORDO:423384/ntbt", source="Orphanet:423384"}
xref: OMIM:616022 {source="MONDO:equivalentTo", source="ORDO:423384/e", source="Orphanet:423384"}
xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"}
xref: UMLS:C4014954 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: exactMatch http://identifiers.org/omim/616022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014954
property_value: exactMatch Orphanet:423384

[Term]
id: MONDO:0014457
name: hyperphosphatasia with intellectual disability syndrome 5
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 11" RELATED [OMIM:616025]
synonym: "glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11" RELATED [OMIM:616025]
synonym: "GPIBD11" RELATED [OMIM:616025]
synonym: "HPMRS5" RELATED [MONDO:Lexical, OMIM:616025]
synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT [MONDO:Lexical, OMIM:616025]
synonym: "hyperphosphatasia with mental retardation syndrome 5; HPMRS5" RELATED [OMIM:616025]
synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT [MONDORULE:1, OMIM:616025]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW" EXACT [MONDO:design_pattern]
synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616025 {source="MONDO:equivalentTo"}
xref: UMLS:C4014958 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616025", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/616025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014958

[Term]
id: MONDO:0014458
name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" EXACT [MONDO:Lexical, OMIM:616026]
synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; FRTS4" RELATED [OMIM:616026]
synonym: "Fanconi syndrome caused by mutation in HNF4A" EXACT [MONDO:design_pattern]
synonym: "FRTS4" RELATED [MONDO:Lexical, OMIM:616026]
synonym: "FRTS4 with MODY" RELATED [OMIM:616026]
synonym: "HNF4A Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616026 {source="MONDO:equivalentTo"}
xref: UMLS:C4014962 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="DC-OMIM:616026", source="MONDO:Redundant", source="MONDOLEX:0014458", source="OMIM:616026"} ! Fanconi renotubular syndrome
is_a: MONDO:0018911 ! maturity-onset diabetes of the young (disease)
property_value: exactMatch http://identifiers.org/omim/616026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014962

[Term]
id: MONDO:0014459
name: Adams-Oliver syndrome 5
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Adams-Oliver syndrome 5" EXACT [MONDO:Lexical, OMIM:616028]
synonym: "Adams-Oliver syndrome 5; AOS5" RELATED [OMIM:616028]
synonym: "Adams-Oliver syndrome caused by mutation in NOTCH1" EXACT []
synonym: "Adams-Oliver syndrome caused by mutation in Notch1" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1, OMIM:616028]
synonym: "AOS5" RELATED [MONDO:Lexical, OMIM:616028]
synonym: "NOTCH1 Adams-Oliver syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Notch1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern]
xref: OMIM:616028 {source="MONDO:equivalentTo"}
xref: UMLS:C4014970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616028", source="ORDO:974/btnt"} ! Adams-Oliver syndrome
property_value: exactMatch http://identifiers.org/omim/616028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014970

[Term]
id: MONDO:0014460
name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
def: "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." [Orphanet:423454]
subset: ordo_disease {source="Orphanet:423454"}
synonym: "ECTDS" RELATED [MONDO:Lexical, OMIM:616029]
synonym: "ectodermal dysplasia-short stature syndrome" EXACT [Orphanet:423454]
synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical, OMIM:616029]
synonym: "ectodermal dysplasia/short stature syndrome; ECTDS" RELATED [OMIM:616029]
synonym: "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" EXACT [Orphanet:423454]
xref: ICD10:Q82.8 {source="Orphanet:423454", source="ORDO:423454/attributed", source="ORDO:423454/ntbt"}
xref: OMIM:616029 {source="Orphanet:423454", source="MONDO:equivalentTo", source="ORDO:423454/e"}
xref: Orphanet:423454 {source="OMIM:616029", source="MONDO:equivalentTo"}
xref: UMLS:C4014987 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDOLEX:0014460", source="Orphanet:423454"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:423454"} ! hyperpigmentation of the skin
is_a: MONDO:0020097 {source="Orphanet:423454"} ! autosomal recessive disease with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/omim/616029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014987
property_value: exactMatch Orphanet:423454

[Term]
id: MONDO:0014461
name: hypogonadotropic hypogonadism 22 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FEZF1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH22" RELATED [MONDO:Lexical, OMIM:616030]
synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [MONDO:Lexical, OMIM:616030]
synonym: "hypogonadotropic hypogonadism 22 with or without anosmia; HH22" RELATED [OMIM:616030]
synonym: "hypogonadotropic hypogonadism caused by mutation in FEZF1" EXACT [MONDO:design_pattern]
xref: DOID:0090081 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090081"}
xref: OMIM:616030 {source="MONDO:equivalentTo", source="DOID:0090081"}
xref: UMLS:C4014988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome
property_value: exactMatch DOID:0090081
property_value: exactMatch http://identifiers.org/omim/616030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014988

[Term]
id: MONDO:0014462
name: focal segmental glomerulosclerosis 8
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ANLN focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 8" EXACT [MONDO:Lexical, OMIM:616032]
synonym: "focal segmental glomerulosclerosis 8; FSGS8" RELATED [OMIM:616032]
synonym: "focal segmental glomerulosclerosis caused by mutation in ANLN" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 8" EXACT [DOID:0111133, MONDORULE:1, OMIM:616032]
synonym: "FSGS8" EXACT [DOID:0111133, MONDO:Lexical, OMIM:616032]
synonym: "glomerulosclerosis, focal segmental, 8" RELATED [OMIM:616032]
xref: DOID:0111133 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111133"}
xref: OMIM:616032 {source="MONDO:equivalentTo", source="DOID:0111133"}
xref: UMLS:C4014993 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="DC-OMIM:616032", source="DOID:0111133", source="MONDO:Redundant", source="MONDOLEX:0014462", source="OMIM:616032"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111133
property_value: exactMatch http://identifiers.org/omim/616032
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4014993

[Term]
id: MONDO:0014463
name: obsolete microcephaly, short stature, and impaired glucose metabolism
is_obsolete: true
replaced_by: MONDO:0000208

[Term]
id: MONDO:0014464
name: progressive encephalopathy with leukodystrophy due to DECR deficiency
def: "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." [Orphanet:431361]
subset: ordo_disease {source="Orphanet:431361"}
synonym: "2,4-alpha dienoyl-CoA reductase deficiency" RELATED [GARD:0010327]
synonym: "2,4-dienoyl-CoA reductase deficiency" EXACT [MONDO:Lexical, OMIM:616034, Orphanet:431361]
synonym: "2,4-dienoyl-CoA reductase deficiency; DECRD" RELATED [OMIM:616034]
synonym: "DECR deficiency with hyperlysinemia" EXACT [Orphanet:431361]
synonym: "DECRD" RELATED [MONDO:Lexical, OMIM:616034]
synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327]
xref: GARD:0010327 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="ORDO:431361/attributed", source="ORDO:431361/ntbt", source="Orphanet:431361"}
xref: MESH:C565624 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616034 {source="MONDO:equivalentTo", source="ORDO:431361/e", source="Orphanet:431361"}
xref: Orphanet:431361 {source="MONDO:equivalentTo", source="OMIM:616034"}
xref: UMLS:C1857252 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:431361"}
is_a: MONDO:0018118 {source="Orphanet:431361"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019046 {source="Orphanet:431361"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:431361"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C565624
property_value: exactMatch http://identifiers.org/omim/616034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857252
property_value: exactMatch Orphanet:431361

[Term]
id: MONDO:0014465
name: primary ciliary dyskinesia 30
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CCDC151 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD30" EXACT [DOID:0110624, MONDO:Lexical, OMIM:616037]
synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical, OMIM:616037]
synonym: "ciliary dyskinesia, primary, 30, with or without situs inversus" RELATED [OMIM:616037]
synonym: "ciliary dyskinesia, primary, 30; CILD30" RELATED [OMIM:616037]
synonym: "ciliary dyskinesia, primary, type 30" EXACT [MONDORULE:2, OMIM:616037]
synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [DOID:0110624]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC151" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 30" EXACT [DOID:0110624, MONDORULE:2]
xref: DOID:0110624 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110624"}
xref: OMIM:616037 {source="DOID:0110624", source="MONDO:equivalentTo"}
xref: UMLS:C4015016 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:616037", source="DOID:0110624", source="MONDO:Redundant", source="MONDOLEX:0014465", source="OMIM:616037"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110624
property_value: exactMatch http://identifiers.org/omim/616037
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015016

[Term]
id: MONDO:0014466
name: Neu-Laxova syndrome 2
def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Neu-Laxova syndrome 2" EXACT [MONDO:Lexical, OMIM:616038]
synonym: "NEU-Laxova syndrome 2; NLS2" RELATED [OMIM:616038]
synonym: "Neu-Laxova syndrome caused by mutation in PSAT1" EXACT [MONDO:design_pattern]
synonym: "Neu-Laxova syndrome type 2" EXACT [DOID:0080075, MONDORULE:1, OMIM:616038]
synonym: "NLS2" RELATED [MONDO:Lexical, OMIM:616038]
synonym: "PSAT1 Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080075 {source="MONDO:equivalentTo"}
xref: OMIM:616038 {source="DOID:0080075", source="MONDO:equivalentTo"}
xref: UMLS:C4015019 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000179 {source="DC", source="MONDO:Redundant", source="OMIM:616038"} ! Neu-Laxova syndrome
property_value: exactMatch DOID:0080075
property_value: exactMatch http://identifiers.org/omim/616038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015019

[Term]
id: MONDO:0014467
name: Charcot-Marie-Tooth disease recessive intermediate d
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:435998"}
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203]
synonym: "Charcot-Marie-Tooth disease caused by mutation in COX6A1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type D" EXACT [DOID:0110203, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate D" RELATED [MONDO:Lexical, OMIM:616039]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate D; CMTRID" RELATED [OMIM:616039]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type D" EXACT [MONDORULE:1, OMIM:616039]
synonym: "CMTRID" EXACT [DOID:0110203, MONDO:Lexical, OMIM:616039]
synonym: "COX6A1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998]
xref: DOID:0110203 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110203", source="Orphanet:435998", source="ORDO:435998/attributed", source="ORDO:435998/ntbt"}
xref: OMIM:616039 {source="DOID:0110203", source="ORDO:435998/e", source="Orphanet:435998", source="MONDO:equivalentTo"}
xref: Orphanet:435998 {source="DOID:0110203", source="MONDO:equivalentTo"}
xref: UMLS:C4015029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016578 {source="Orphanet:435998"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0017058 {source="MONDOLEX:0014467", source="Orphanet:435998"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0110203
property_value: exactMatch http://identifiers.org/omim/616039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015029
property_value: exactMatch Orphanet:435998

[Term]
id: MONDO:0014468
name: congenital myasthenic syndrome 7
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS7" EXACT [DOID:0110659, MONDO:Lexical, OMIM:616040]
synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [DOID:0110659]
synonym: "congenital myasthenic syndrome caused by mutation in SYT2" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 7" EXACT [DOID:0110659, MONDORULE:1]
synonym: "myasthenic syndrome, congenital, 7, presynaptic" RELATED [MONDO:Lexical, OMIM:616040]
synonym: "myasthenic syndrome, congenital, 7, presynaptic; CMS7" RELATED [OMIM:616040]
synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [OMIM:616040]
synonym: "SYT2 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110659 {source="MONDO:equivalentTo"}
xref: OMIM:616040 {source="DOID:0110659", source="MONDO:equivalentTo"}
xref: UMLS:C4015038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110659
property_value: exactMatch http://identifiers.org/omim/616040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015038

[Term]
id: MONDO:0014469
name: autosomal recessive nonsyndromic deafness 103
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 103" EXACT [DOID:0110464]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 103" EXACT [DOID:0110464, MONDORULE:2]
synonym: "CLIC5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 103" RELATED [MONDO:Lexical, OMIM:616042]
synonym: "deafness, autosomal recessive 103; DFNB103" RELATED [OMIM:616042]
synonym: "deafness, autosomal recessive type 103" EXACT [MONDORULE:2, OMIM:616042]
synonym: "DFNB103" EXACT [DOID:0110464, MONDO:Lexical, OMIM:616042]
xref: DOID:0110464 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110464"}
xref: OMIM:616042 {source="MONDO:equivalentTo", source="DOID:0110464"}
xref: UMLS:C4015050 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:616042", source="DOID:0110464", source="MONDO:Redundant", source="OMIM:616042"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110464
property_value: exactMatch http://identifiers.org/omim/616042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015050

[Term]
id: MONDO:0014470
name: autosomal dominant nonsyndromic deafness 65
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 65" EXACT [DOID:0110586]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 65" EXACT [DOID:0110586, MONDORULE:2]
synonym: "deafness, autosomal dominant 65" RELATED [MONDO:Lexical, OMIM:616044]
synonym: "deafness, autosomal dominant 65; DFNA65" RELATED [OMIM:616044]
synonym: "deafness, autosomal dominant type 65" EXACT [MONDORULE:2, OMIM:616044]
synonym: "DFNA65" EXACT [DOID:0110586, MONDO:Lexical, OMIM:616044]
synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110586 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110586"}
xref: OMIM:616044 {source="MONDO:equivalentTo", source="DOID:0110586"}
xref: UMLS:C3892048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616044", source="DOID:0110586", source="MONDO:Redundant", source="OMIM:616044"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110586
property_value: exactMatch http://identifiers.org/omim/616044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3892048

[Term]
id: MONDO:0014471
name: mitochondrial proton-transporting ATP synthase complex deficiency
def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913]
comment: Consider splitting out nuclear type for OMIMPS
subset: ordo_disease {source="Orphanet:254913"}
synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913]
synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913]
synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143]
xref: DOID:0111143 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="ORDO:254913/attributed", source="ORDO:254913/ntbt", source="Orphanet:254913"}
xref: OMIMPS:604273 {source="MONDO:equivalentTo"}
xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"}
xref: UMLS:C4015062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0044971 ! disease of macromolecular complex
relationship: excluded_subClassOf MONDO:0016805 {source="Orphanet:254913"} ! isolated oxidative phosphorylation complex disorder
property_value: exactMatch DOID:0111143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015062
property_value: exactMatch Orphanet:254913

[Term]
id: MONDO:0014472
name: periodic fever-infantile enterocolitis-autoinflammatory syndrome
subset: ordo_disease {source="Orphanet:436166"}
synonym: "AIFEC" RELATED [MONDO:Lexical, OMIM:616050]
synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical, OMIM:616050]
synonym: "AUTOINFLAMMATION with infantile enterocolitis; AIFEC" RELATED [OMIM:616050]
synonym: "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:436166]
synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related macrophage activation syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related MAS" EXACT [Orphanet:436166]
xref: ICD10:E85.0 {source="ORDO:436166/attributed", source="ORDO:436166/ntbt", source="Orphanet:436166"}
xref: OMIM:616050 {source="MONDO:equivalentTo", source="ORDO:436166/e", source="Orphanet:436166"}
xref: Orphanet:436166 {source="MONDO:equivalentTo"}
xref: UMLS:C4015067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017953 {source="Orphanet:436166"} ! hereditary periodic fever syndrome
property_value: exactMatch http://identifiers.org/omim/616050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015067
property_value: exactMatch Orphanet:436166

[Term]
id: MONDO:0014473
name: microcephaly 13, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CENPE" EXACT [MONDO:design_pattern]
synonym: "CENPE autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH13" RELATED [MONDO:Lexical, OMIM:616051]
synonym: "microcephaly 13, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616051]
synonym: "microcephaly 13, primary, autosomal recessive; MCPH13" RELATED [OMIM:616051]
xref: DOID:0070283 {source="MONDO:equivalentTo"}
xref: OMIM:616051 {source="MONDO:equivalentTo"}
xref: UMLS:C4015080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:616051", source="MONDO:Redundant", source="OMIM:616051"} ! autosomal recessive primary microcephaly
is_a: MONDO:0019342 ! Seckel syndrome
property_value: exactMatch DOID:0070283
property_value: exactMatch http://identifiers.org/omim/616051
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015080

[Term]
id: MONDO:0014474
name: autosomal recessive limb-girdle muscular dystrophy type 2U
def: "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:352479"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479]
synonym: "ISPD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2U" EXACT [DOID:0110295, Orphanet:352479]
synonym: "MDDGC7" EXACT [DOID:0110295, MONDO:Lexical, OMIM:616052]
synonym: "muscular dystrophy limb-girdle type 2U" EXACT [DOID:0110295]
synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; MDDGC7" RELATED [OMIM:616052]
xref: DOID:0110295 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:352479/attributed", source="ORDO:352479/ntbt", source="DOID:0110295", source="Orphanet:352479"}
xref: OMIM:616052 {source="MONDO:equivalentTo", source="ORDO:352479/e", source="DOID:0110295", source="Orphanet:352479"}
xref: Orphanet:352479 {source="MONDO:equivalentTo", source="DOID:0110295", source="OMIM:616052"}
xref: UMLS:C4015095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000173 {source="DC-OMIM:616052", source="OMIM:616052"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110295", source="MONDO:Redundant", source="MONDOLEX:0014474", source="OMIM:616052", source="Orphanet:352479"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016155 {source="Orphanet:352479"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
is_a: MONDO:0017745 {source="Orphanet:352479"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:352479"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch DOID:0110295
property_value: exactMatch http://identifiers.org/omim/616052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015095
property_value: exactMatch Orphanet:352479

[Term]
id: MONDO:0014475
name: spinocerebellar ataxia type 40
def: "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." [Orphanet:423275]
subset: ordo_disease {source="Orphanet:423275"}
synonym: "SCA40" EXACT [MONDO:Lexical, OMIM:616053, Orphanet:423275]
synonym: "spinocerebellar ataxia 40" RELATED [MONDO:Lexical, OMIM:616053]
synonym: "spinocerebellar ataxia 40; SCA40" RELATED [OMIM:616053]
synonym: "spinocerebellar ataxia type 40" EXACT [MONDORULE:2, OMIM:616053]
xref: DOID:0050986 {source="MONDO:equivalentTo"}
xref: EFO:0009057 {source="MONDO:equivalentTo"}
xref: GARD:0012371 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:G11.8 {source="Orphanet:423275", source="ORDO:423275/attributed", source="ORDO:423275/ntbt"}
xref: OMIM:616053 {source="DOID:0050986", source="MONDO:equivalentTo", source="Orphanet:423275", source="ORDO:423275/e"}
xref: Orphanet:423275 {source="MONDO:equivalentTo", source="OMIM:616053"}
xref: SCTID:734020000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518336 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN219009 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN237494 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019792 {source="EFO:0009057", source="Orphanet:423275"} ! autosomal dominant cerebellar ataxia type I
property_value: exactMatch DOID:0050986
property_value: exactMatch http://identifiers.org/omim/616053
property_value: exactMatch http://identifiers.org/snomedct/734020000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN219009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237494
property_value: exactMatch Orphanet:423275

[Term]
id: MONDO:0014476
name: episodic ataxia type 8
subset: ordo_disease {source="Orphanet:401953"}
synonym: "EA8" RELATED [MONDO:Lexical, OMIM:616055]
synonym: "episodic ataxia type 8" EXACT [Orphanet:401953]
synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953]
synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055]
synonym: "episodic ataxia, type 8; EA8" RELATED [OMIM:616055]
xref: DOID:0050996 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="Orphanet:401953", source="ORDO:401953/attributed", source="ORDO:401953/ntbt"}
xref: OMIM:616055 {source="ORDO:401953/e", source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996"}
xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"}
xref: UMLS:C4015108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia
property_value: exactMatch DOID:0050996
property_value: exactMatch http://identifiers.org/omim/616055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015108
property_value: exactMatch Orphanet:401953

[Term]
id: MONDO:0014477
name: epileptic encephalopathy, early infantile, 26
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0012391"}
synonym: "early infantile epileptic encephalopathy 26" RELATED [GARD:0012391]
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNB1" EXACT [MONDO:design_pattern]
synonym: "EIEE26" RELATED [GARD:0012391, MONDO:Lexical, OMIM:616056]
synonym: "epileptic encephalopathy, early infantile, 26" EXACT [MONDO:Lexical, OMIM:616056]
synonym: "epileptic encephalopathy, early infantile, 26; EIEE26" RELATED [OMIM:616056]
synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2, OMIM:616056]
synonym: "KCNB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0012391 {source="MONDO:equivalentTo"}
xref: OMIM:616056 {source="MONDO:equivalentTo"}
xref: UMLS:C4015119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015119
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 xsd:anyURI {source="GARD:0012391"}

[Term]
id: MONDO:0014478
name: mirror movements 3
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern]
synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059]
synonym: "mirror movements 3; MRMV3" RELATED [OMIM:616059]
synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059]
synonym: "MRMV3" RELATED [MONDO:Lexical, OMIM:616059]
xref: OMIM:616059 {source="MONDO:equivalentTo"}
xref: UMLS:C4015124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="ORDO:238722/btnt"} ! familial congenital mirror movements
property_value: exactMatch http://identifiers.org/omim/616059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015124

[Term]
id: MONDO:0014479
name: porokeratosis 8, disseminated superficial actinic type
synonym: "POROK8" RELATED [MONDO:Lexical, OMIM:616063]
synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:616063]
synonym: "porokeratosis 8, disseminated superficial actinic type; POROK8" RELATED [OMIM:616063]
xref: OMIM:616063 {source="MONDO:equivalentTo"}
xref: UMLS:C4015128 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: exactMatch http://identifiers.org/omim/616063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015128

[Term]
id: MONDO:0014480
name: 46,XY sex reversal 9
synonym: "46,XY sex reversal 9" EXACT [MONDO:Lexical, OMIM:616067]
synonym: "46,XY SEX reversal 9; SRXY9" RELATED [OMIM:616067]
synonym: "46,XY Sex reversal type 9" EXACT [MONDORULE:1, OMIM:616067]
synonym: "46,XY Sex reversal, Zfpm2-related" RELATED [OMIM:616067]
synonym: "SRXY9" RELATED [MONDO:Lexical, OMIM:616067]
xref: OMIM:616067 {source="MONDO:equivalentTo"}
xref: UMLS:C4015129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="DC-OMIM:616067", source="MONDOLEX:0014480", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/616067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015129

[Term]
id: MONDO:0014481
name: inflammatory skin and bowel disease, neonatal, 2
def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069]
synonym: "inflammatory skin and bowel disease, neonatal, 2; NISBD2" RELATED [OMIM:616069]
synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069]
synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern]
synonym: "NISBD2" RELATED [MONDO:Lexical, OMIM:616069]
xref: OMIM:616069 {source="MONDO:equivalentTo"}
xref: UMLS:C4015130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="ORDO:294023/btnt"} ! neonatal inflammatory skin and bowel disease
property_value: exactMatch http://identifiers.org/omim/616069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015130

[Term]
id: MONDO:0014482
name: intellectual disability, autosomal dominant 29
def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare
synonym: "autosomal dominant mental retardation 29" EXACT [DOID:0070059, GARD:0013379]
synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059]
synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 29" RELATED [MONDO:Lexical, OMIM:616078]
synonym: "mental retardation, autosomal dominant 29; MRD29" RELATED [OMIM:616078]
synonym: "mental retardation, autosomal dominant type 29" EXACT [MONDORULE:2, OMIM:616078]
synonym: "MRD29" EXACT [DOID:0070059, MONDO:Lexical, OMIM:616078]
synonym: "SETBP1 disorder" RELATED [GARD:0013379]
synonym: "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SETBP1 related developmental delay" RELATED [GARD:0013379]
synonym: "SETBP1-related disorder" RELATED [GARD:0013379]
synonym: "SETBP1-related intellectual disability" RELATED [GARD:0013379]
xref: DOID:0070059 {source="MONDO:equivalentTo"}
xref: GARD:0013379 {source="MONDO:equivalentTo"}
xref: OMIM:616078 {source="GARD:0013379", source="MONDO:equivalentTo", source="DOID:0070059"}
xref: UMLS:C4015141 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018574 {source="MONDO:Redundant", source="ORDO:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070059"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070059
property_value: exactMatch http://identifiers.org/omim/616078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015141

[Term]
id: MONDO:0014483
name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
subset: ordo_disease {source="Orphanet:397758"}
synonym: "RDGCA" RELATED [MONDO:Lexical, OMIM:616079]
synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758]
synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079]
synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; RDGCA" RELATED [OMIM:616079]
xref: ICD10:H35.5 {source="ORDO:397758/attributed", source="ORDO:397758/ntbt", source="Orphanet:397758", source="MONDO:directSiblingOf"}
xref: OMIM:616079 {source="MONDO:equivalentTo", source="Orphanet:397758", source="ORDO:397758/e"}
xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"}
xref: UMLS:C4015146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/omim/616079
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015146
property_value: exactMatch Orphanet:397758

[Term]
id: MONDO:0014484
name: microcephaly 12, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CDK6" EXACT [MONDO:design_pattern]
synonym: "CDK6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH12" RELATED [MONDO:Lexical, OMIM:616080]
synonym: "microcephaly 12, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616080]
synonym: "microcephaly 12, primary, autosomal recessive; MCPH12" RELATED [OMIM:616080]
xref: DOID:0070284 {source="MONDO:equivalentTo"}
xref: OMIM:616080 {source="MONDO:equivalentTo"}
xref: UMLS:C4015156 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:616080", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070284
property_value: exactMatch http://identifiers.org/omim/616080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015156

[Term]
id: MONDO:0014485
name: pontocerebellar hypoplasia, type 1C
def: "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EXOSC8 pontocerebellar hypoplasia type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [OMIM:616081]
synonym: "PCH1C" RELATED [MONDO:Lexical, OMIM:616081]
synonym: "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8" EXACT [MONDO:design_pattern]
synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081]
synonym: "pontocerebellar hypoplasia, type 1C; PCH1C" RELATED [OMIM:616081]
xref: OMIM:616081 {source="MONDO:equivalentTo"}
xref: UMLS:C4015160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016396 {source="MONDO:Redundant", source="MONDOLEX:0014485", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1
property_value: exactMatch http://identifiers.org/omim/616081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015160

[Term]
id: MONDO:0014486
name: intellectual disability, autosomal dominant 30
def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant intellectual disability 30" RELATED [GARD:0013136]
synonym: "autosomal dominant mental retardation 30" EXACT [DOID:0070060]
synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [DOID:0070060]
synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 30" RELATED [MONDO:Lexical, OMIM:616083]
synonym: "mental retardation, autosomal dominant 30; MRD30" RELATED [OMIM:616083]
synonym: "mental retardation, autosomal dominant type 30" EXACT [MONDORULE:2, OMIM:616083]
synonym: "MRD30" EXACT [DOID:0070060, MONDO:Lexical, OMIM:616083]
synonym: "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070060 {source="MONDO:equivalentTo"}
xref: GARD:0013136 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:616083 {source="MONDO:equivalentTo", source="DOID:0070060"}
xref: UMLS:C4015167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018574 {source="MONDO:Redundant", source="ORDO:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0014482 {source="DOID:0070060"} ! intellectual disability, autosomal dominant 29
relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:616083"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070060
property_value: exactMatch http://identifiers.org/omim/616083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015167

[Term]
id: MONDO:0014487
name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
def: "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." [Orphanet:369861]
subset: ordo_disease {source="Orphanet:369861"}
synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084]
synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; SIFD" RELATED [OMIM:616084]
synonym: "SIFD" EXACT [DOID:0080209, MONDO:Lexical, OMIM:616084]
synonym: "SIFD syndrome" EXACT [Orphanet:369861]
xref: DOID:0080209 {source="MONDO:equivalentTo"}
xref: ICD10:D64.0 {source="ORDO:369861/attributed", source="ORDO:369861/ntbt", source="Orphanet:369861"}
xref: OMIM:616084 {source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209", source="ORDO:369861/e"}
xref: Orphanet:369861 {source="MONDO:equivalentTo", source="OMIM:616084"}
xref: UMLS:C4015172 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018041 {source="Orphanet:369861"} ! other immunodeficiency syndrome with predominantly antibody defects
is_a: MONDO:0020099 {source="Orphanet:369861"} ! constitutional sideroblastic anemia
property_value: exactMatch DOID:0080209
property_value: exactMatch http://identifiers.org/omim/616084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015172
property_value: exactMatch Orphanet:369861

[Term]
id: MONDO:0014488
name: diabetes mellitus, noninsulin-dependent, 5
def: "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, noninsulin-dependent, 5" EXACT [MONDO:Lexical, OMIM:616087]
synonym: "diabetes mellitus, noninsulin-dependent, 5; NIDDM5" RELATED [OMIM:616087]
synonym: "diabetes mellitus, noninsulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:616087]
synonym: "NIDDM5" RELATED [MONDO:Lexical, OMIM:616087]
synonym: "TBC1D4 type 2 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 2 diabetes mellitus caused by mutation in TBC1D4" EXACT [MONDO:design_pattern]
xref: OMIM:616087 {source="MONDO:equivalentTo"}
xref: UMLS:C4015183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005148 {source="DC-OMIM:616087", source="MONDO:Redundant", source="MONDOLEX:0014488"} ! type 2 diabetes mellitus
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/omim/616087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015183

[Term]
id: MONDO:0014489
name: limb-girdle muscular dystrophy due to POMK deficiency
def: "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." [Orphanet:445110]
subset: ordo_disease {source="Orphanet:445110"}
synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110]
synonym: "MDDGC12" RELATED [MONDO:Lexical, OMIM:616094]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; MDDGC12" RELATED [OMIM:616094]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:445110", source="ORDO:445110/attributed", source="ORDO:445110/ntbt"}
xref: OMIM:616094 {source="MONDO:equivalentTo", source="Orphanet:445110", source="ORDO:445110/e"}
xref: Orphanet:445110 {source="MONDO:equivalentTo"}
xref: UMLS:C4015184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000173 {source="DC-OMIM:616094", source="OMIM:616094"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="Orphanet:445110"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016155 {source="Orphanet:445110"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
is_a: MONDO:0017745 {source="Orphanet:445110"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0019058 {source="Orphanet:445110"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/616094
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015184
property_value: exactMatch Orphanet:445110

[Term]
id: MONDO:0014490
name: ketoacidosis due to monocarboxylate transporter-1 deficiency
subset: ordo_disease {source="Orphanet:438075"}
synonym: "MCT1D" RELATED [MONDO:Lexical, OMIM:616095]
synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical, OMIM:616095]
synonym: "monocarboxylate transporter 1 deficiency; MCT1D" RELATED [OMIM:616095]
xref: ICD10:E88.8 {source="ORDO:438075/attributed", source="ORDO:438075/ntbt", source="Orphanet:438075"}
xref: OMIM:616095 {source="MONDO:equivalentTo", source="Orphanet:438075", source="ORDO:438075/e"}
xref: Orphanet:438075 {source="MONDO:equivalentTo"}
xref: UMLS:C4015186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018579 {source="Orphanet:438075"} ! disorder of ketone body transport
property_value: exactMatch http://identifiers.org/omim/616095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015186
property_value: exactMatch Orphanet:438075

[Term]
id: MONDO:0014491
name: immunodeficiency 37
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCL10 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD37" RELATED [MONDO:Lexical, OMIM:616098]
synonym: "immunodeficiency 37" EXACT [MONDO:Lexical, OMIM:616098]
synonym: "immunodeficiency 37; IMD37" RELATED [OMIM:616098]
synonym: "immunodeficiency type 37" EXACT [MONDORULE:2, OMIM:616098]
synonym: "primary immunodeficiency disease caused by mutation in BCL10" EXACT [MONDO:design_pattern]
xref: OMIM:616098 {source="MONDO:equivalentTo"}
xref: UMLS:C4015195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:616098", source="MONDO:Redundant"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/616098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015195

[Term]
id: MONDO:0014492
name: woolly hair-palmoplantar keratoderma syndrome
def: "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." [Orphanet:420686]
subset: ordo_disease {source="Orphanet:420686"}
synonym: "keratoderma with woolly hair type IV" EXACT [Orphanet:420686]
synonym: "KWWH type IV" EXACT [Orphanet:420686]
synonym: "palmoplantar keratoderma and woolly hair" RELATED [MONDO:Lexical, OMIM:616099]
synonym: "palmoplantar keratoderma and woolly hair; PPKWH" RELATED [OMIM:616099]
synonym: "PPKWH" RELATED [MONDO:Lexical, OMIM:616099]
synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686]
xref: ICD10:Q82.8 {source="Orphanet:420686", source="ORDO:420686/attributed", source="ORDO:420686/ntbt"}
xref: OMIM:616099 {source="ORDO:420686/e", source="Orphanet:420686", source="MONDO:equivalentTo"}
xref: Orphanet:420686 {source="MONDO:equivalentTo", source="OMIM:616099"}
xref: SCTID:764108000 {source="MONDO:equivalentTo"}
xref: UMLS:C4015202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018558 {source="Orphanet:420686"} ! syndrome with woolly hair
is_a: MONDO:0020097 {source="Orphanet:420686"} ! autosomal recessive disease with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://identifiers.org/omim/616099
property_value: exactMatch http://identifiers.org/snomedct/764108000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015202
property_value: exactMatch Orphanet:420686

[Term]
id: MONDO:0014493
name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
def: "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." [NCIT:C126341]
subset: gard_rare {source="GARD:0012316"}
subset: ordo_disease {source="Orphanet:436159"}
synonym: "ALPS due to CTLA4 haploinsuffiency" EXACT [Orphanet:436159]
synonym: "ALPS type 5" EXACT [Orphanet:436159]
synonym: "ALPS type V" EXACT [Orphanet:436159]
synonym: "ALPS5" RELATED [MONDO:Lexical, OMIM:616100]
synonym: "autoimmune lymphoproliferative syndrome type 5" EXACT [Orphanet:436159]
synonym: "autoimmune lymphoproliferative syndrome type V" EXACT [Orphanet:436159]
synonym: "autoimmune lymphoproliferative syndrome, type 5" RELATED [OMIM:616100]
synonym: "autoimmune lymphoproliferative syndrome, type V" RELATED [GARD:0012316, MONDO:Lexical, OMIM:616100]
synonym: "autoimmune lymphoproliferative syndrome, type V; ALPS5" RELATED [OMIM:616100]
synonym: "chai" EXACT [Orphanet:436159]
synonym: "CTLA-4 haploinsufficiency with autoimmune infiltration disease" EXACT [Orphanet:436159]
synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341]
synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100]
xref: GARD:0012316 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="Orphanet:436159", source="ORDO:436159/attributed", source="ORDO:436159/ntbt"}
xref: NCIT:C126341 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="ORDO:436159/e"}
xref: Orphanet:436159 {source="MONDO:equivalentTo"}
xref: UMLS:C4015214 {source="NCIT:C126341", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017979 {source="DC-OMIM:616100", source="MONDOLEX:0014493"} ! autoimmune lymphoproliferative syndrome
property_value: exactMatch http://identifiers.org/omim/616100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015214
property_value: exactMatch NCIT:C126341
property_value: exactMatch Orphanet:436159
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency xsd:anyURI {source="GARD:0012316"}

[Term]
id: MONDO:0014494
name: psoriasis 15, pustular, susceptibility to
def: "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalized pustular psoriasis caused by mutation in AP1S3" EXACT [MONDO:design_pattern]
synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM:616106]
synonym: "psoriasis 15, pustular, susceptibility to; PSORS15" RELATED [OMIM:616106]
synonym: "PSORS15" RELATED [MONDO:Lexical, OMIM:616106]
synonym: "susceptibility to pustular psoriasis 15" RELATED [OMIM:616106]
xref: OMIM:616106 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005083 ! psoriasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4015235
property_value: exactMatch http://identifiers.org/omim/616106

[Term]
id: MONDO:0014495
name: retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:436245"}
synonym: "RDJCSS" RELATED [MONDO:Lexical, OMIM:616108]
synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical, OMIM:616108]
synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome; RDJCSS" RELATED [OMIM:616108]
synonym: "retinal dystrophy-juvenile cataract-short stature syndrome" EXACT [Orphanet:436245]
xref: ICD10:Q87.8 {source="ORDO:436245/attributed", source="ORDO:436245/btnt", source="Orphanet:436245"}
xref: OMIM:616108 {source="MONDO:equivalentTo", source="ORDO:436245/e", source="Orphanet:436245"}
xref: Orphanet:436245 {source="MONDO:equivalentTo"}
xref: UMLS:C4015242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:436245"} ! syndromic intellectual disability
is_a: MONDO:0020240 {source="Orphanet:436245"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/616108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015242
property_value: exactMatch Orphanet:436245

[Term]
id: MONDO:0014496
name: mitochondrial complex III deficiency nuclear type 9
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN9" RELATED [MONDO:Lexical, OMIM:616111]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [OMIM:616111]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCC3" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical, OMIM:616111]
synonym: "mitochondrial complex III deficiency, nuclear type 9; MC3DN9" RELATED [OMIM:616111]
synonym: "UQCC3 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080118 {source="MONDO:equivalentTo"}
xref: OMIM:616111 {source="MONDO:equivalentTo", source="DOID:0080118"}
xref: UMLS:C4015253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch DOID:0080118
property_value: exactMatch http://identifiers.org/omim/616111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015253

[Term]
id: MONDO:0014497
name: polyendocrine-polyneuropathy syndrome
subset: ordo_disease {source="Orphanet:453533"}
synonym: "PEPNS" RELATED [MONDO:Lexical, OMIM:616113]
synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113]
synonym: "polyendocrine-polyneuropathy syndrome; PEPNS" RELATED [OMIM:616113]
xref: OMIM:616113 {source="Orphanet:453533", source="ORDO:453533/e", source="MONDO:equivalentTo"}
xref: Orphanet:453533 {source="MONDO:equivalentTo"}
xref: UMLS:C4015261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:453533"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015361 {source="Orphanet:453533"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0015778 {source="Orphanet:453533"} ! syndromic hypothyroidism
is_a: MONDO:0015888 {source="Orphanet:453533"} ! other rare diabetes mellitus
is_a: MONDO:0015890 {source="Orphanet:453533"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/omim/616113
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015261
property_value: exactMatch Orphanet:453533

[Term]
id: MONDO:0014498
name: familial cold autoinflammatory syndrome 4
def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115]
synonym: "familial cold autoinflammatory syndrome 4; FCAS4" RELATED [OMIM:616115]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 4" EXACT [DOID:0090065, MONDORULE:1, OMIM:616115]
synonym: "FCAS4" RELATED [MONDO:Lexical, OMIM:616115]
synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090065 {source="MONDO:equivalentTo"}
xref: ICD10:L50.2 {source="DOID:0090065"}
xref: OMIM:616115 {source="DOID:0090065", source="MONDO:equivalentTo"}
xref: UMLS:C4015276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018768 {source="DC-OMIM:616115", source="DOID:0090065", source="MONDO:Redundant", source="OMIM:616115"} ! familial cold autoinflammatory syndrome
property_value: exactMatch DOID:0090065
property_value: exactMatch http://identifiers.org/omim/616115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015276

[Term]
id: MONDO:0014499
name: intellectual disability, autosomal recessive 46
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal recessive 46" RELATED [MONDO:Lexical, OMIM:616116]
synonym: "mental retardation, autosomal recessive 46; MRT46" RELATED [OMIM:616116]
synonym: "mental retardation, autosomal recessive type 46" EXACT [MONDORULE:2, OMIM:616116]
synonym: "MRT46" RELATED [MONDO:Lexical, OMIM:616116]
synonym: "NDST1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616116 {source="MONDO:equivalentTo"}
xref: UMLS:C4015283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:616116", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015283

[Term]
id: MONDO:0014500
name: atrial conduction disease
def: "atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted" [EFO:0005304]
subset: ordo_disease {source="Orphanet:436242"}
synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:616117]
synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy; CCDD" RELATED [OMIM:616117]
synonym: "CCDD" RELATED [MONDO:Lexical, OMIM:616117]
synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242]
xref: EFO:0005304 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="ORDO:436242/attributed", source="ORDO:436242/ntbt", source="Orphanet:436242"}
xref: OMIM:616117 {source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242", source="ORDO:436242/e"}
xref: Orphanet:436242 {source="MONDO:equivalentTo"}
xref: UMLS:C4015285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005449 {source="EFO:0005304"} ! conduction system disorder
is_a: MONDO:0015110 {source="Orphanet:436242"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/omim/616117
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015285
property_value: exactMatch Orphanet:436242

[Term]
id: MONDO:0014501
name: macular degeneration, early-onset
synonym: "EOMD" RELATED [MONDO:Lexical, OMIM:616118]
synonym: "macular degeneration, early-onset" EXACT [MONDO:Lexical, OMIM:616118]
synonym: "macular degeneration, early-onset; EOMD" RELATED [OMIM:616118]
xref: OMIM:616118 {source="MONDO:equivalentTo"}
xref: UMLS:C4015286 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003004 ! macular degeneration
is_a: MONDO:0019118 ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/omim/616118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015286

[Term]
id: MONDO:0014502
name: mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-GuC)rin (BCG) infections." [Orphanet:319563]
comment: Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease
subset: ordo_disease {source="Orphanet:319563"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" EXACT []
synonym: "IMD38" RELATED [MONDO:Lexical, OMIM:616126]
synonym: "immunodeficiency 38 with basal ganglia calcification" RELATED [MONDO:Lexical, OMIM:616126]
synonym: "immunodeficiency 38 with basal ganglia calcification; IMD38" RELATED [OMIM:616126]
synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [OMIM:616126]
synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126]
synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563]
xref: ICD10:D84.8 {source="ORDO:319563/attributed", source="ORDO:319563/ntbt", source="Orphanet:319563"}
xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="ORDO:319563/e"}
xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"}
xref: UMLS:C4015293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017897 {source="Orphanet:319563"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
relationship: excluded_subClassOf MONDO:0018782 {source="Orphanet:319563"} ! type 1 interferonopathy
property_value: exactMatch http://identifiers.org/omim/616126
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015293
property_value: exactMatch Orphanet:319563

[Term]
id: MONDO:0014503
name: autosomal recessive spinocerebellar ataxia 17
def: "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:453521"}
synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [Orphanet:453521]
synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 17" EXACT [DOID:0080064, MONDORULE:2]
synonym: "CWF19L1 autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR17" EXACT [MONDO:Lexical, OMIM:616127, Orphanet:453521]
synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:453521]
synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127]
synonym: "spinocerebellar ataxia, autosomal recessive 17; SCAR17" RELATED [OMIM:616127]
synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2, OMIM:616127]
xref: DOID:0080064 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="Orphanet:453521", source="ORDO:453521/attributed", source="ORDO:453521/ntbt"}
xref: OMIM:616127 {source="DOID:0080064", source="ORDO:453521/e", source="Orphanet:453521", source="MONDO:equivalentTo"}
xref: Orphanet:453521 {source="MONDO:equivalentTo"}
xref: UMLS:C4015301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:453521"} ! syndromic intellectual disability
is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:453521"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch DOID:0080064
property_value: exactMatch http://identifiers.org/omim/616127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015301
property_value: exactMatch Orphanet:453521

[Term]
id: MONDO:0014504
name: Perrault syndrome 5
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Perrault syndrome 5" EXACT [MONDO:Lexical, OMIM:616138]
synonym: "Perrault syndrome 5; PRLTS5" RELATED [OMIM:616138]
synonym: "Perrault syndrome caused by mutation in TWNK" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1, OMIM:616138]
synonym: "PRLTS5" RELATED [MONDO:Lexical, OMIM:616138]
synonym: "TWNK Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616138 {source="MONDO:equivalentTo"}
xref: UMLS:C4015307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017312 {source="DC-OMIM:616138", source="MONDO:Redundant", source="OMIM:616138"} ! Perrault syndrome
property_value: exactMatch http://identifiers.org/omim/616138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015307

[Term]
id: MONDO:0014505
name: epileptic encephalopathy, early infantile, 27
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern]
synonym: "EIEE27" RELATED [MONDO:Lexical, OMIM:616139]
synonym: "epileptic encephalopathy, early infantile, 27" EXACT [MONDO:Lexical, OMIM:616139]
synonym: "epileptic encephalopathy, early infantile, 27; EIEE27" RELATED [OMIM:616139]
synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2, OMIM:616139]
synonym: "GRIN2B early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616139 {source="MONDO:equivalentTo"}
xref: UMLS:C4015316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/616139
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015316

[Term]
id: MONDO:0014506
name: hypomyelinating leukodystrophy 9
def: "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:438114"}
synonym: "HLD9" EXACT [DOID:0060791, MONDO:Lexical, OMIM:616140]
synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in RARS" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical, OMIM:616140]
synonym: "leukodystrophy, hypomyelinating, 9; HLD9" RELATED [OMIM:616140]
synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:616140]
synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791]
xref: DOID:0060791 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="DOID:0060791", source="Orphanet:438114", source="ORDO:438114/attributed", source="ORDO:438114/ntbt"}
xref: OMIM:616140 {source="DOID:0060791", source="MONDO:equivalentTo", source="Orphanet:438114", source="ORDO:438114/e"}
xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"}
xref: UMLS:C4015323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:438114"} ! syndromic intellectual disability
is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Redundant", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy
property_value: exactMatch DOID:0060791
property_value: exactMatch http://identifiers.org/omim/616140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015323
property_value: exactMatch Orphanet:438114

[Term]
id: MONDO:0014507
name: Catel-Manzke syndrome
def: "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." [Orphanet:1388]
subset: gard_rare {source="GARD:0000028"}
subset: ordo_malformation_syndrome {source="Orphanet:1388"}
synonym: "Catel Manzke syndrome" RELATED [GARD:0000028]
synonym: "Catel-Manzke syndrome" EXACT [MONDO:Lexical, OMIM:616145]
synonym: "Catel-Manzke syndrome; CATMANS" RELATED [OMIM:616145]
synonym: "CATMANS" RELATED [MONDO:Lexical, OMIM:616145]
synonym: "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [Orphanet:1388]
synonym: "index finger anomaly with Pierre Robin syndrome" RELATED [OMIM:616145]
synonym: "index finger anomaly-Pierre Robin syndrome" EXACT [Orphanet:1388]
synonym: "micrognathia digital syndrome" EXACT [OMIM:616145, Orphanet:1388]
synonym: "Palatodigital syndrome Catel-Manzke type" RELATED [GARD:0000028]
synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [OMIM:616145, Orphanet:1388]
synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388]
synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145]
synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388]
xref: GARD:0000028 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1388", source="ORDO:1388/attributed", source="ORDO:1388/ntbt"}
xref: MESH:C535347 {source="ORDO:1388/e", source="Orphanet:1388", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616145 {source="ORDO:1388/e", source="Orphanet:1388", source="MONDO:equivalentTo"}
xref: Orphanet:1388 {source="MONDO:equivalentTo", source="OMIM:616145"}
xref: SCTID:722383001 {source="MONDO:kboom-pr-1.00/0.80/9.28", source="MONDO:equivalentTo"}
xref: UMLS:C1844887 {source="ORDO:1388/e", source="NCBI:mim2gene_medline", source="Orphanet:1388", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1388", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1388"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:1388"} ! orofacial clefting syndrome
is_a: MONDO:0017434 {source="Orphanet:1388"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/omim/302380
property_value: exactMatch http://identifiers.org/mesh/C535347
property_value: exactMatch http://identifiers.org/omim/616145
property_value: exactMatch http://identifiers.org/snomedct/722383001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844887
property_value: exactMatch Orphanet:1388
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome xsd:anyURI {source="GARD:0000028"}

[Term]
id: MONDO:0014508
name: vitelliform macular dystrophy 4
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMPG1 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, vitelliform, 4" EXACT [MONDO:Lexical, OMIM:616151]
synonym: "macular dystrophy, vitelliform, 4; VMD4" RELATED [OMIM:616151]
synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1, OMIM:616151]
synonym: "vitelliform macular dystrophy caused by mutation in IMPG1" EXACT [MONDO:design_pattern]
synonym: "VMD4" RELATED [MONDO:Lexical, OMIM:616151]
xref: OMIM:616151 {source="MONDO:equivalentTo"}
xref: UMLS:C4015342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy
property_value: exactMatch http://identifiers.org/omim/616151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015342

[Term]
id: MONDO:0014509
name: vitelliform macular dystrophy 5
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMPG2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, vitelliform, 5" EXACT [MONDO:Lexical, OMIM:616152]
synonym: "macular dystrophy, vitelliform, 5; VMD5" RELATED [OMIM:616152]
synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1, OMIM:616152]
synonym: "vitelliform macular dystrophy caused by mutation in IMPG2" EXACT [MONDO:design_pattern]
synonym: "VMD5" RELATED [MONDO:Lexical, OMIM:616152]
xref: OMIM:616152 {source="MONDO:equivalentTo"}
xref: UMLS:C4015343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy
property_value: exactMatch http://identifiers.org/omim/616152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015343

[Term]
id: MONDO:0014510
name: fatty acyl-CoA reductase 1 deficiency
subset: ordo_disease {source="Orphanet:438178"}
synonym: "fatty acyl-CoA reductase 1 disorder" EXACT [Orphanet:438178]
synonym: "Fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency" EXACT [https://orcid.org/0000-0002-6733-369X]
synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder" RELATED [MONDO:Lexical, OMIM:616154]
synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder; PFCRD" RELATED [OMIM:616154]
synonym: "PFCRD" RELATED [MONDO:Lexical, OMIM:616154]
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811, Orphanet:438178]
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT []
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178]
xref: ICD10:E71.3 {source="ORDO:438178/attributed", source="ORDO:438178/ntbt", source="Orphanet:438178"}
xref: OMIM:616154 {source="MONDO:equivalentTo", source="Orphanet:438178", source="ORDO:438178/e"}
xref: Orphanet:438178 {source="MONDO:equivalentTo"}
xref: UMLS:C4015344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:438178"} ! syndromic intellectual disability
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016398 {source="Orphanet:438178"} ! peroxisomal disease with epilepsy
is_a: MONDO:0017986 {source="Orphanet:438178"} ! disorder of plasmalogens biosynthesis
is_a: MONDO:0019058 {source="Orphanet:438178"} ! neurometabolic disease
is_a: MONDO:0020280 {source="Orphanet:438178"} ! metabolic disease with cataract
property_value: exactMatch http://identifiers.org/omim/616154
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015344
property_value: exactMatch Orphanet:438178

[Term]
id: MONDO:0014511
name: Charcot-Marie-Tooth disease axonal type 2S
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:443073"}
synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [OMIM:616155]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical, OMIM:616155]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2S; CMT2S" RELATED [OMIM:616155]
synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155]
synonym: "CMT2S" EXACT [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073]
synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110171 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:443073/attributed", source="ORDO:443073/ntbt", source="Orphanet:443073"}
xref: OMIM:616155 {source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073", source="ORDO:443073/e"}
xref: Orphanet:443073 {source="MONDO:equivalentTo", source="DOID:0110171"}
xref: UMLS:C4015349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110171"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="Orphanet:443073"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110171
property_value: exactMatch http://identifiers.org/omim/616155
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015349
property_value: exactMatch Orphanet:443073

[Term]
id: MONDO:0014512
name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
def: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." [Orphanet:438216]
subset: ordo_clinical_subtype {source="Orphanet:438216"}
synonym: "autosomal dominant mental retardation 31" EXACT [DOID:0070061]
synonym: "autosomal dominant non-syndromic intellectual disability 31" RELATED [DOID:0070061]
synonym: "mental retardation, autosomal dominant 31" RELATED [MONDO:Lexical, OMIM:616158]
synonym: "mental retardation, autosomal dominant 31; MRD31" RELATED [OMIM:616158]
synonym: "mental retardation, autosomal dominant type 31" EXACT [MONDORULE:2, OMIM:616158]
synonym: "MRD31" EXACT [DOID:0070061, MONDO:Lexical, OMIM:616158]
xref: DOID:0070061 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="Orphanet:438216", source="ORDO:438216/attributed", source="ORDO:438216/ntbt"}
xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="DOID:0070061", source="ORDO:438216/e"}
xref: Orphanet:438216 {source="MONDO:equivalentTo"}
xref: UMLS:C4015357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN237609 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018580 {source="Orphanet:438216"} ! PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070061"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070061
property_value: exactMatch http://identifiers.org/omim/616158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237609
property_value: exactMatch Orphanet:438216

[Term]
id: MONDO:0014513
name: nemaline myopathy 10
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LMOD3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM10" EXACT [DOID:0110931, MONDO:Lexical, OMIM:616165]
synonym: "nemaline myopathy 10" EXACT [MONDO:Lexical, OMIM:616165]
synonym: "nemaline myopathy 10; NEM10" RELATED [OMIM:616165]
synonym: "nemaline myopathy caused by mutation in LMOD3" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 10" EXACT [DOID:0110931, MONDORULE:2, OMIM:616165]
xref: DOID:0110931 {source="MONDO:equivalentTo"}
xref: OMIM:616165 {source="DOID:0110931", source="MONDO:equivalentTo"}
xref: UMLS:C4015360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy
property_value: exactMatch DOID:0110931
property_value: exactMatch http://identifiers.org/omim/616165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015360

[Term]
id: MONDO:0014514
name: aortic aneurysm, familial thoracic 9
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AAT9" RELATED [MONDO:Lexical, OMIM:616166]
synonym: "aortic aneurysm, familial thoracic 9" EXACT [MONDO:Lexical, OMIM:616166]
synonym: "aortic aneurysm, familial thoracic 9; AAT9" RELATED [OMIM:616166]
synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1, OMIM:616166]
synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [OMIM:616166]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" EXACT [MONDO:design_pattern]
synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616166 {source="MONDO:equivalentTo"}
xref: UMLS:C4015368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:616166", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/omim/616166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015368

[Term]
id: MONDO:0014515
name: macular dystrophy with central cone involvement
synonym: "CCMD" RELATED [MONDO:Lexical, OMIM:616170]
synonym: "macular dystrophy with central cone involvement" EXACT [MONDO:Lexical, OMIM:616170]
synonym: "macular dystrophy with central cone involvement; CCMD" RELATED [OMIM:616170]
xref: OMIM:616170 {source="MONDO:equivalentTo"}
xref: UMLS:C4015371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005150 ! age-related macular degeneration
property_value: exactMatch http://identifiers.org/omim/616170
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015371

[Term]
id: MONDO:0014516
name: microcephaly and chorioretinopathy 2
def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCCRP2" RELATED [MONDO:Lexical, OMIM:616171]
synonym: "microcephaly and chorioretinopathy caused by mutation in PLK4" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 2" EXACT [DOID:0080106, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:616171]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2" RELATED [OMIM:616171]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:616171]
synonym: "PLK4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080106 {source="MONDO:equivalentTo"}
xref: OMIM:616171 {source="MONDO:equivalentTo", source="DOID:0080106"}
xref: UMLS:C4015388 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000181 {source="DC-OMIM:616171", source="MONDO:Redundant", source="MONDOLEX:0014516", source="OMIM:616171"} ! microcephaly and chorioretinopathy
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0080106
property_value: exactMatch http://identifiers.org/omim/616171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015388

[Term]
id: MONDO:0014517
name: generalized epilepsy with febrile seizures plus, type 9
def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Gefs+, type 9" RELATED [OMIM:616172]
synonym: "GEFSP9" RELATED [MONDO:Lexical, OMIM:616172]
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT []
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [MONDO:Lexical, OMIM:616172]
synonym: "generalized epilepsy with febrile seizures plus, type 9; GEFSP9" RELATED [OMIM:616172]
synonym: "STX1B generalized epilepsy with febrile seizures plus" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "STX1b generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern]
xref: OMIM:616172 {source="MONDO:equivalentTo"}
xref: UMLS:C4015395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="DC-OMIM:616172", source="MONDO:Redundant", source="OMIM:616172"} ! generalized epilepsy with febrile seizures plus
property_value: exactMatch http://identifiers.org/omim/616172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015395

[Term]
id: MONDO:0014518
name: platelet-type bleeding disorder 19
def: "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:438207"}
synonym: "BDPLT19" EXACT [DOID:0111048, MONDO:Lexical, OMIM:616176]
synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical, OMIM:616176]
synonym: "bleeding disorder, platelet-type, 19; BDPLT19" RELATED [OMIM:616176]
synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKACG" EXACT [MONDO:design_pattern]
synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048]
xref: DOID:0111048 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="Orphanet:438207", source="ORDO:438207/attributed", source="ORDO:438207/ntbt", source="DOID:0111048"}
xref: OMIM:616176 {source="ORDO:438207/e", source="Orphanet:438207", source="MONDO:equivalentTo", source="DOID:0111048"}
xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"}
xref: UMLS:C4015405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016361 {source="MONDO:Redundant", source="Orphanet:438207"} ! isolated hereditary giant platelet disorder
property_value: exactMatch DOID:0111048
property_value: exactMatch http://identifiers.org/omim/616176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015405
property_value: exactMatch Orphanet:438207

[Term]
id: MONDO:0014519
name: chronic mountain sickness, susceptibility to
subset: predisposition
synonym: "chronic mountain sickness, susceptibility to" EXACT [OMIM:616182]
synonym: "Monge disease" RELATED [OMIM:616182]
xref: OMIM:616182 {source="MONDO:equivalentTo"}
xref: UMLS:C0274294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_has_feature MONDO:0006625 ! altitude sickness
property_value: exactMatch http://identifiers.org/omim/616182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0274294

[Term]
id: MONDO:0014520
name: 46,XX ovarian dysgenesis-short stature syndrome
subset: ordo_disease {source="Orphanet:444048"}
synonym: "ODG4" RELATED [MONDO:Lexical, OMIM:616185]
synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical, OMIM:616185]
synonym: "ovarian dysgenesis 4; ODG4" RELATED [OMIM:616185]
synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1, OMIM:616185]
xref: ICD10:Q96.8 {source="Orphanet:444048", source="ORDO:444048/attributed", source="ORDO:444048/ntbt"}
xref: OMIM:616185 {source="ORDO:444048/e", source="Orphanet:444048", source="MONDO:equivalentTo"}
xref: Orphanet:444048 {source="MONDO:equivalentTo"}
xref: UMLS:C4015409 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017961 {source="Orphanet:444048"} ! 46,XX disorder of gonadal development
is_a: MONDO:0019852 {source="Orphanet:444048"} ! inherited primary ovarian failure
is_a: MONDO:0020038 {source="Orphanet:444048"} ! gonadal dysgenesis of gynecological interest
property_value: exactMatch http://identifiers.org/omim/616185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015409
property_value: exactMatch Orphanet:444048

[Term]
id: MONDO:0014521
name: progressive myoclonic epilepsy type 7
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:435438"}
synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical, OMIM:616187]
synonym: "epilepsy, progressive myoclonic 7; EPM7" RELATED [OMIM:616187]
synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1, OMIM:616187]
synonym: "EPM7" EXACT [MONDO:Lexical, OMIM:616187, Orphanet:435438]
synonym: "KCNC1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "meak" EXACT [Orphanet:435438]
synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [Orphanet:435438]
synonym: "PME type 7" EXACT [Orphanet:435438]
synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438]
synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438]
xref: ICD10:G40.3 {source="Orphanet:435438", source="ORDO:435438/attributed", source="ORDO:435438/ntbt"}
xref: NCIT:C142804 {source="MONDO:equivalentTo"}
xref: OMIM:616187 {source="Orphanet:435438", source="ORDO:435438/e", source="MONDO:equivalentTo"}
xref: Orphanet:435438 {source="MONDO:equivalentTo"}
xref: UMLS:C4015420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017655 {source="Orphanet:435438"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0020074 {source="DC-OMIM:616187", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/616187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015420
property_value: exactMatch NCIT:C142804
property_value: exactMatch Orphanet:435438

[Term]
id: MONDO:0014522
name: retinal dystrophy and obesity
synonym: "RDOB" RELATED [MONDO:Lexical, OMIM:616188]
synonym: "retinal dystrophy and obesity" EXACT [MONDO:Lexical, OMIM:616188]
synonym: "retinal dystrophy and obesity; RDOB" RELATED [OMIM:616188]
xref: OMIM:616188 {source="MONDO:equivalentTo"}
xref: UMLS:C4015424 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/616188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015424

[Term]
id: MONDO:0014523
name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
subset: ordo_disease {source="Orphanet:445062"}
synonym: "ACPHD" RELATED [MONDO:Lexical, OMIM:616192]
synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical, OMIM:616192]
synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus; ACPHD" RELATED [OMIM:616192]
synonym: "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" EXACT [Orphanet:445062]
xref: OMIM:616192 {source="MONDO:equivalentTo", source="Orphanet:445062", source="ORDO:445062/e"}
xref: Orphanet:445062 {source="MONDO:equivalentTo"}
xref: UMLS:C4015436 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:445062"} ! hereditary ataxia
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015888 {source="Orphanet:445062"} ! other rare diabetes mellitus
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019589 {source="Orphanet:445062"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/616192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015436
property_value: exactMatch Orphanet:445062

[Term]
id: MONDO:0014524
name: intellectual disability, autosomal recessive 47
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" EXACT [MONDO:design_pattern]
synonym: "FMN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 47" RELATED [MONDO:Lexical, OMIM:616193]
synonym: "mental retardation, autosomal recessive 47; MRT47" RELATED [OMIM:616193]
synonym: "mental retardation, autosomal recessive type 47" EXACT [MONDORULE:2, OMIM:616193]
synonym: "MRT47" RELATED [MONDO:Lexical, OMIM:616193]
xref: OMIM:616193 {source="MONDO:equivalentTo"}
xref: UMLS:C4015444 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:616193", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015444

[Term]
id: MONDO:0014525
name: combined oxidative phosphorylation defect type 23
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:444013"}
synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical, OMIM:616198]
synonym: "combined oxidative phosphorylation deficiency 23; COXPD23" RELATED [OMIM:616198]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 23" EXACT [MONDORULE:2, OMIM:616198]
synonym: "COXPD23" EXACT [MONDO:Lexical, OMIM:616198, Orphanet:444013]
synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009033 {source="MONDO:equivalentTo"}
xref: ICD10:I42.2 {source="Orphanet:444013", source="ORDO:444013/attributed", source="ORDO:444013/ntbt"}
xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="ORDO:444013/e"}
xref: Orphanet:444013 {source="MONDO:equivalentTo"}
xref: UMLS:C4015447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:444013"} ! syndromic intellectual disability
is_a: MONDO:0000732 {source="DC-OMIM:616198", source="MONDO:Redundant", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016327 {source="Orphanet:444013"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018157 {source="EFO:0009033", source="Orphanet:444013"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:444013"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/616198
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015447
property_value: exactMatch Orphanet:444013

[Term]
id: MONDO:0014526
name: polyglucosan body myopathy type 2
def: "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:456369"}
synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PGBM2" RELATED [MONDO:Lexical, OMIM:616199]
synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199]
synonym: "polyglucosan body myopathy 2; PGBM2" RELATED [OMIM:616199]
synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern]
synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:456369", source="ORDO:456369/attributed", source="ORDO:456369/ntbt"}
xref: OMIM:616199 {source="Orphanet:456369", source="ORDO:456369/e", source="MONDO:equivalentTo"}
xref: Orphanet:456369 {source="MONDO:equivalentTo"}
xref: UMLS:C4015452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000192 {source="DC-OMIM:616199", source="MONDO:Redundant", source="MONDOLEX:0014526", source="OMIM:616199"} ! polyglucosan body myopathy
is_a: MONDO:0002412 {source="Orphanet:456369"} ! glycogen storage disease
is_a: MONDO:0016118 {source="Orphanet:456369"} ! muscular glycogenosis
is_a: MONDO:0019058 {source="Orphanet:456369"} ! neurometabolic disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/616199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015452
property_value: exactMatch Orphanet:456369

[Term]
id: MONDO:0014527
name: progeroid features-hepatocellular carcinoma predisposition syndrome
subset: ordo_disease {source="Orphanet:435953"}
synonym: "RJALS" RELATED [MONDO:Lexical, OMIM:616200]
synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200]
synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953]
synonym: "RUIJS-Aalfs syndrome; RJALS" RELATED [OMIM:616200]
xref: OMIM:616200 {source="Orphanet:435953", source="ORDO:435953/e", source="MONDO:equivalentTo"}
xref: Orphanet:435953 {source="MONDO:equivalentTo"}
xref: UMLS:C4015461 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015333 {source="Orphanet:435953"} ! progeroid syndrome
is_a: MONDO:0015356 {source="Orphanet:435953"} ! hereditary neoplastic syndrome
property_value: exactMatch http://identifiers.org/omim/616200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015461
property_value: exactMatch Orphanet:435953

[Term]
id: MONDO:0014528
name: chronic atrial and intestinal dysrhythmia
def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [DOID:0060339, PMID:25282101]
subset: ordo_disease {source="Orphanet:435988"}
synonym: "caid" RELATED [MONDO:Lexical, OMIM:616201]
synonym: "caid syndrome" EXACT [DOID:0060339, Orphanet:435988, PMID:25282101]
synonym: "chronic atrial and intestinal dysrhythmia" EXACT [MONDO:Lexical, OMIM:616201]
synonym: "chronic atrial and intestinal dysrhythmia syndrome" RELATED [Orphanet:435988]
synonym: "chronic atrial and intestinal dysrhythmia; caid" RELATED [OMIM:616201]
synonym: "chronic atrial dysrhythmia-intestinal motility disorder" EXACT [Orphanet:435988]
synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281]
synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281]
xref: DOID:0060339 {source="MONDO:equivalentTo"}
xref: GARD:0012281 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K59.8 {source="Orphanet:435988", source="ORDO:435988/attributed", source="ORDO:435988/ntbt"}
xref: OMIM:616201 {source="Orphanet:435988", source="ORDO:435988/e", source="MONDO:equivalentTo", source="DOID:0060339"}
xref: Orphanet:435988 {source="MONDO:equivalentTo"}
xref: SCTID:720507006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4015474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0060339", source="MONDOLEX:0014528"} ! syndromic disease
is_a: MONDO:0005020 {source="Orphanet:435988"} ! intestinal disease
is_a: MONDO:0015110 {source="Orphanet:435988"} ! genetic cardiac rhythm disease
property_value: exactMatch DOID:0060339
property_value: exactMatch http://identifiers.org/omim/616201
property_value: exactMatch http://identifiers.org/snomedct/720507006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015474
property_value: exactMatch Orphanet:435988

[Term]
id: MONDO:0014529
name: cerebellar-facial-dental syndrome
subset: ordo_malformation_syndrome {source="Orphanet:444072"}
synonym: "cerebellar-facial-dental syndrome" EXACT [OMIM:616202]
synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical, OMIM:616202]
synonym: "Cerebellofaciodental syndrome" EXACT [Orphanet:444072]
synonym: "CEREBELLOFACIODENTAL syndrome; CFDS" RELATED [OMIM:616202]
synonym: "CFDS" RELATED [MONDO:Lexical, OMIM:616202]
xref: EFO:0009030 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:444072/attributed", source="ORDO:444072/ntbt", source="Orphanet:444072"}
xref: OMIM:616202 {source="MONDO:equivalentTo", source="Orphanet:444072", source="ORDO:444072/e"}
xref: Orphanet:444072 {source="MONDO:equivalentTo"}
xref: UMLS:C4015495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN221667 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444072", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:444072"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015603 {source="Orphanet:444072"} ! rare odontal or periodontal disorder
is_a: MONDO:0017118 {source="Orphanet:444072"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0018488 {source="Orphanet:444072"} ! rare genetic odontal or periodontal disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616202
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221667
property_value: exactMatch Orphanet:444072

[Term]
id: MONDO:0014530
name: autosomal recessive spinocerebellar ataxia 18
def: "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." [Orphanet:363432]
subset: ordo_clinical_subtype {source="Orphanet:363432"}
synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" EXACT []
synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [Orphanet:363432]
synonym: "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" EXACT [Orphanet:363432]
synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [DOID:0080042, MONDORULE:2]
synonym: "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR18" EXACT [MONDO:Lexical, OMIM:616204, Orphanet:363432]
synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204]
synonym: "spinocerebellar ataxia, autosomal recessive 18; SCAR18" RELATED [OMIM:616204]
synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204]
xref: DOID:0080042 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="Orphanet:363432", source="ORDO:363432/attributed", source="ORDO:363432/ntbt"}
xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="ORDO:363432/e", source="MONDO:equivalentTo"}
xref: Orphanet:363432 {source="OMIM:616204", source="MONDO:equivalentTo"}
xref: UMLS:C4015505 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:363432"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
property_value: exactMatch DOID:0080042
property_value: exactMatch http://identifiers.org/omim/616204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015505
property_value: exactMatch Orphanet:363432

[Term]
id: MONDO:0014531
name: amyotrohpic lateral sclerosis type 22
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALS 22" EXACT [DOID:0060355]
synonym: "ALS22" RELATED [MONDO:Lexical, OMIM:616208]
synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [DOID:0060355]
synonym: "amyotrophic lateral sclerosis 22" EXACT [DOID:0060355]
synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:616208]
synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; ALS22" RELATED [OMIM:616208]
synonym: "amyotrophic lateral sclerosis caused by mutation in TUBA4A" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 22" RELATED [DOID:0060355]
synonym: "TUBA4A amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060355 {source="MONDO:equivalentTo"}
xref: OMIM:616208 {source="DOID:0060355", source="MONDO:equivalentTo"}
xref: UMLS:C4015512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="DC-OMIM:616208", source="DOID:0060355", source="MONDO:Redundant", source="MONDOLEX:0014531", source="OMIM:616208"} ! amyotrophic lateral sclerosis
property_value: exactMatch DOID:0060355
property_value: exactMatch http://identifiers.org/omim/616208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015512

[Term]
id: MONDO:0014532
name: autosomal dominant mitochondrial myopathy with exercise intolerance
subset: ordo_disease {source="Orphanet:457050"}
synonym: "IMMD" RELATED [MONDO:Lexical, OMIM:616209]
synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209]
synonym: "myopathy, isolated mitochondrial, autosomal dominant; IMMD" RELATED [OMIM:616209]
xref: ICD10:G71.3 {source="ORDO:457050/attributed", source="ORDO:457050/ntbt", source="Orphanet:457050"}
xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="ORDO:457050/e"}
xref: Orphanet:457050 {source="MONDO:equivalentTo"}
xref: UMLS:C4015513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
is_a: MONDO:0016799 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0019058 {source="Orphanet:457050"} ! neurometabolic disease
is_a: MONDO:0020123 {source="Orphanet:457050"} ! metabolic myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/616209
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015513
property_value: exactMatch Orphanet:457050

[Term]
id: MONDO:0014533
name: epileptic encephalopathy, early infantile, 28
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern]
synonym: "EIEE28" RELATED [MONDO:Lexical, OMIM:616211]
synonym: "epileptic encephalopathy, early infantile, 28" EXACT [MONDO:Lexical, OMIM:616211]
synonym: "epileptic encephalopathy, early infantile, 28; EIEE28" RELATED [OMIM:616211]
synonym: "epileptic encephalopathy, early infantile, type 28" EXACT [MONDORULE:2, OMIM:616211]
synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616211 {source="MONDO:equivalentTo"}
xref: UMLS:C4015519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616211
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015519

[Term]
id: MONDO:0014534
name: lissencephaly 6 with microcephaly
def: "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KATNB1 Microlissencephaly" EXACT [MONDO:design_pattern]
synonym: "KATNB1 microlissencephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "LIS6" RELATED [MONDO:Lexical, OMIM:616212]
synonym: "lissencephaly 6 with microcephaly" EXACT [MONDO:Lexical, OMIM:616212]
synonym: "lissencephaly 6 with microcephaly; LIS6" RELATED [OMIM:616212]
synonym: "Microlissencephaly caused by mutation in KATNB1" EXACT [MONDO:design_pattern]
synonym: "microlissencephaly caused by mutation in KATNB1" EXACT []
xref: OMIM:616212 {source="MONDO:equivalentTo"}
is_a: MONDO:0015204 {source="MONDO:Redundant", source="ORDO:1083/btnt"} ! microlissencephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4015525
property_value: exactMatch http://identifiers.org/omim/616212

[Term]
id: MONDO:0014535
name: hyperproinsulinemia
synonym: "hyperproinsulinemia" EXACT [OMIM:616214]
xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562776 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616214 {source="MONDO:equivalentTo"}
xref: SCTID:237613005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.07"}
xref: UMLS:C0342283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C562776
property_value: exactMatch http://identifiers.org/omim/616214
property_value: exactMatch http://identifiers.org/snomedct/237613005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342283

[Term]
id: MONDO:0014536
name: thrombocytopenia 5
def: "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ETV6 thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THC5" RELATED [MONDO:Lexical, OMIM:616216]
synonym: "thrombocytopenia 5" EXACT [MONDO:Lexical, OMIM:616216]
synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [OMIM:616216]
synonym: "thrombocytopenia 5; THC5" RELATED [OMIM:616216]
synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_pattern]
synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1, OMIM:616216]
synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [OMIM:616216]
xref: OMIM:616216 {source="MONDO:equivalentTo"}
xref: UMLS:C4015537 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="DC-OMIM:616216", source="MONDO:Redundant", source="indirect"} ! thrombocytopenia
property_value: exactMatch http://identifiers.org/omim/616216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015537

[Term]
id: MONDO:0014537
name: nephronophthisis 19
def: "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DCDC2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in DCDC2" EXACT []
synonym: "nephronophthisis 19" EXACT [MONDO:Lexical, OMIM:616217]
synonym: "nephronophthisis 19; NPHP19" RELATED [OMIM:616217]
synonym: "nephronophthisis type 19" EXACT [DOID:0111126, MONDORULE:2, OMIM:616217]
synonym: "NPHP19" EXACT [DOID:0111126, MONDO:Lexical, OMIM:616217]
xref: DOID:0111126 {source="MONDO:equivalentTo"}
xref: OMIM:616217 {source="MONDO:equivalentTo", source="DOID:0111126"}
xref: UMLS:C4015542 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:616217", source="DOID:0111126", source="MONDO:Redundant", source="OMIM:616217"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111126
property_value: exactMatch http://identifiers.org/omim/616217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015542

[Term]
id: MONDO:0014538
name: fibrosis of extraocular muscles, congenital, 5
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CFEOM5" RELATED [MONDO:Lexical, OMIM:616219]
synonym: "COL25A1 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in COL25A1" EXACT [MONDO:design_pattern]
synonym: "fibrosis of extraocular muscles, congenital, 5" EXACT [MONDO:Lexical, OMIM:616219]
synonym: "fibrosis of extraocular muscles, congenital, 5; CFEOM5" RELATED [OMIM:616219]
synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1, OMIM:616219]
xref: OMIM:616219 {source="MONDO:equivalentTo"}
xref: UMLS:C4015552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:616219"} ! congenital fibrosis of extraocular muscles
property_value: exactMatch http://identifiers.org/omim/616219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015552

[Term]
id: MONDO:0014539
name: focal segmental glomerulosclerosis 9
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CRB2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 9" EXACT [MONDO:Lexical, OMIM:616220]
synonym: "focal segmental glomerulosclerosis 9; FSGS9" RELATED [OMIM:616220]
synonym: "focal segmental glomerulosclerosis caused by mutation in CRB2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 9" EXACT [DOID:0111134, MONDORULE:1, OMIM:616220]
synonym: "FSGS9" EXACT [DOID:0111134, MONDO:Lexical, OMIM:616220]
synonym: "glomerulosclerosis, focal segmental, 9" RELATED [OMIM:616220]
xref: DOID:0111134 {source="MONDO:equivalentTo"}
xref: ICD10:N04.1 {source="DOID:0111134"}
xref: OMIM:616220 {source="MONDO:equivalentTo", source="DOID:0111134"}
xref: UMLS:C4015555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005363 {source="DOID:0111134", source="MONDO:Redundant", source="MONDOLEX:0014539", source="OMIM:616220"} ! focal segmental glomerulosclerosis
property_value: exactMatch DOID:0111134
property_value: exactMatch http://identifiers.org/omim/616220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015555

[Term]
id: MONDO:0014540
name: amelogenesis imperfecta type 1H
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:616221"}
synonym: "AI1H" EXACT [DOID:0110064, MONDO:Lexical, OMIM:616221]
synonym: "amelogenesis imperfecta caused by mutation in ITGB6" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta type IH" EXACT [DOID:0110064]
synonym: "amelogenesis imperfecta, type 1H" RELATED [OMIM:616221]
synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical, OMIM:616221]
synonym: "amelogenesis imperfecta, type IH; AI1H" RELATED [OMIM:616221]
synonym: "ITGB6 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110064 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110064"}
xref: OMIM:616221 {source="MONDO:equivalentTo", source="DOID:0110064"}
xref: UMLS:C4015557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015047 {source="MONDO:cjm"} ! amelogenesis imperfecta type 1
property_value: exactMatch DOID:0110064
property_value: exactMatch http://identifiers.org/omim/616221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015557

[Term]
id: MONDO:0014541
name: motor developmental delay due to 14q32.2 paternally expressed gene defect
def: "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." [NCIT:C120409]
subset: ordo_malformation_syndrome {source="Orphanet:254516"}
synonym: "maternal uniparental disomy chromosome 14 syndrome" EXACT [NCIT:C120409]
synonym: "mUPD14 syndrome" EXACT [NCIT:C120409]
synonym: "TEMPLE syndrome" RELATED [OMIM:616222]
synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222]
xref: NCIT:C120409 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.75/5.33"}
xref: OMIM:616222 {source="MONDO:equivalentTo", source="Orphanet:254516", source="ORDO:254516/e"}
xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"}
xref: UMLS:C4015558 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C120409"}
is_a: MONDO:0000508 {source="Orphanet:254516"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016565 {source="Orphanet:254516"} ! syndromic genetic obesity
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/616222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015558
property_value: exactMatch NCIT:C120409
property_value: exactMatch Orphanet:254516

[Term]
id: MONDO:0014542
name: congenital myasthenic syndrome 15
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALG14 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS15" EXACT [DOID:0110658, MONDO:Lexical, OMIM:616227]
synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [DOID:0110658]
synonym: "congenital myasthenic syndrome caused by mutation in ALG14" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 15" EXACT [DOID:0110658, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 15" RELATED [MONDO:Lexical, OMIM:616227]
synonym: "myasthenic syndrome, congenital, 15; CMS15" RELATED [OMIM:616227]
synonym: "myasthenic syndrome, congenital, type 15" EXACT [MONDORULE:2, OMIM:616227]
synonym: "myasthenic syndrome, congenital, without tubular aggregates" RELATED [OMIM:616227]
xref: DOID:0110658 {source="MONDO:equivalentTo"}
xref: OMIM:616227 {source="DOID:0110658", source="MONDO:equivalentTo"}
xref: UMLS:C4015596 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018144 {source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect
property_value: exactMatch DOID:0110658
property_value: exactMatch http://identifiers.org/omim/616227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015596

[Term]
id: MONDO:0014543
name: congenital myasthenic syndrome 14
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ALG2 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS14" EXACT [DOID:0110669, MONDO:Lexical, OMIM:616228]
synonym: "CMSTA3" EXACT [DOID:0110669]
synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [DOID:0110669]
synonym: "congenital myasthenic syndrome type 14" EXACT [DOID:0110669, MONDORULE:2]
synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [DOID:0110669]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2" EXACT [MONDO:design_pattern]
synonym: "myasthenic syndrome, congenital, 14" RELATED [MONDO:Lexical, OMIM:616228]
synonym: "myasthenic syndrome, congenital, 14; CMS14" RELATED [OMIM:616228]
synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2, OMIM:616228]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 3" RELATED [OMIM:616228]
xref: DOID:0110669 {source="MONDO:equivalentTo"}
xref: OMIM:616228 {source="DOID:0110669", source="MONDO:equivalentTo"}
xref: UMLS:C4015597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000182 {source="DC-OMIM:616228", source="MONDOLEX:0014543", source="OMIM:616228"} ! congenital myasthenic syndrome with tubular aggregates
is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect
property_value: exactMatch DOID:0110669
property_value: exactMatch http://identifiers.org/omim/616228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015597

[Term]
id: MONDO:0014544
name: osteogenesis imperfecta type 16
def: "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11." [DOID:0110345, PMID:24079343]
synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [DOID:0110345]
synonym: "chromosome 11P11.2 deletion syndrome, 91.3-Kb" RELATED [OMIM:616229]
synonym: "OI, type 16" RELATED [OMIM:616229]
synonym: "OI16" EXACT [DOID:0110345, MONDO:Lexical, OMIM:616229]
synonym: "osteogenesis imperfecta type XVI" EXACT [DOID:0110345]
synonym: "osteogenesis imperfecta, type 16" RELATED [OMIM:616229]
synonym: "osteogenesis imperfecta, type XVI" RELATED [MONDO:Lexical, OMIM:616229]
synonym: "osteogenesis imperfecta, type XVI; OI16" RELATED [OMIM:616229]
xref: DOID:0110345 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110345"}
xref: OMIM:616229 {source="MONDO:equivalentTo", source="DOID:0110345"}
xref: UMLS:C4015610 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:616229", source="DOID:0110345", source="OMIM:616229"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110345
property_value: exactMatch http://identifiers.org/omim/616229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015610

[Term]
id: MONDO:0014545
name: progressive myoclonic epilepsy type 8
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:424027"}
synonym: "CERS1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical, OMIM:616230]
synonym: "epilepsy, progressive myoclonic, 8; EPM8" RELATED [OMIM:616230]
synonym: "epilepsy, progressive myoclonic, type 8" EXACT [MONDORULE:1, OMIM:616230]
synonym: "EPM8" EXACT [MONDO:Lexical, OMIM:616230, Orphanet:424027]
synonym: "PME type 8" EXACT [Orphanet:424027]
synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027]
synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027]
xref: ICD10:G40.3 {source="Orphanet:424027", source="ORDO:424027/attributed", source="ORDO:424027/ntbt"}
xref: OMIM:616230 {source="Orphanet:424027", source="ORDO:424027/e", source="MONDO:equivalentTo"}
xref: Orphanet:424027 {source="MONDO:equivalentTo", source="OMIM:616230"}
xref: UMLS:C4015619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018118 {source="Orphanet:424027"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020074 {source="DC-OMIM:616230", source="MONDO:Redundant", source="OMIM:616230", source="Orphanet:424027"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/616230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015619
property_value: exactMatch Orphanet:424027

[Term]
id: MONDO:0014546
name: myopathy due to calsequestrin and SERCA1 protein overload
def: "Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." [Orphanet:88635]
subset: ordo_disease {source="Orphanet:88635"}
synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231]
synonym: "myopathy, vacuolar, with CASQ1 aggregates; VMCQA" RELATED [OMIM:616231]
synonym: "VMCQA" RELATED [MONDO:Lexical, OMIM:616231]
xref: ICD10:G71.8 {source="Orphanet:88635", source="ORDO:88635/attributed", source="ORDO:88635/ntbt"}
xref: OMIM:616231 {source="ORDO:88635/e", source="Orphanet:88635", source="MONDO:equivalentTo"}
xref: Orphanet:88635 {source="MONDO:equivalentTo", source="OMIM:616231"}
xref: SCTID:724095006 {source="MONDO:equivalentTo"}
xref: UMLS:C4015624 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4510368 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016199 {source="Orphanet:88635"} ! qualitative or quantitative defects of protein SERCA1
is_a: MONDO:0020120 {source="Orphanet:88635", source="Orphanet:88635/inferred"} ! skeletal muscle disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/616231
property_value: exactMatch http://identifiers.org/snomedct/724095006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510368
property_value: exactMatch Orphanet:88635

[Term]
id: MONDO:0014547
name: combined oxidative phosphorylation defect type 24
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:444458"}
synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical, OMIM:616239]
synonym: "combined oxidative phosphorylation deficiency 24; COXPD24" RELATED [OMIM:616239]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in NARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 24" EXACT [MONDORULE:2, OMIM:616239]
synonym: "COXPD24" EXACT [MONDO:Lexical, OMIM:616239, Orphanet:444458]
synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009034 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="Orphanet:444458", source="ORDO:444458/attributed", source="ORDO:444458/ntbt"}
xref: OMIM:616239 {source="Orphanet:444458", source="ORDO:444458/e", source="MONDO:equivalentTo"}
xref: Orphanet:444458 {source="MONDO:equivalentTo"}
xref: UMLS:C4015643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616239", source="MONDO:Redundant", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="EFO:0009034", source="Orphanet:444458"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/616239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015643
property_value: exactMatch Orphanet:444458

[Term]
id: MONDO:0014548
name: long QT syndrome 14
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247]
synonym: "long QT syndrome 14; LQT14" RELATED [OMIM:616247]
synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247]
synonym: "LQT14" EXACT [DOID:0110655, MONDO:Lexical, OMIM:616247]
xref: DOID:0110655 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110655"}
xref: OMIM:616247 {source="DOID:0110655", source="MONDO:equivalentTo"}
xref: UMLS:C4015671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:616247", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: exactMatch DOID:0110655
property_value: exactMatch http://identifiers.org/omim/616247
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015671

[Term]
id: MONDO:0014549
name: lethal congenital contracture syndrome 6
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." [MONDO:design_pattern]
synonym: "LCCS6" RELATED [MONDO:Lexical, OMIM:616248]
synonym: "lethal congenital contracture syndrome 6" EXACT [MONDO:Lexical, OMIM:616248]
synonym: "lethal congenital contracture syndrome 6; LCCS6" RELATED [OMIM:616248]
synonym: "lethal congenital contracture syndrome caused by mutation in ZBTB42" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 6" EXACT [MONDORULE:1, OMIM:616248]
synonym: "ZBTB42 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616248 {source="MONDO:equivalentTo"}
xref: UMLS:C4015686 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017436 {source="DC-OMIM:616248", source="MONDO:Redundant", source="OMIM:616248"} ! lethal congenital contracture syndrome
property_value: exactMatch http://identifiers.org/omim/616248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015686

[Term]
id: MONDO:0014550
name: long QT syndrome 15
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249]
synonym: "long QT syndrome 15; LQT15" RELATED [OMIM:616249]
synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249]
synonym: "LQT15" EXACT [DOID:0110656, MONDO:Lexical, OMIM:616249]
xref: DOID:0110656 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="DOID:0110656"}
xref: OMIM:616249 {source="DOID:0110656", source="MONDO:equivalentTo"}
xref: UMLS:C4015695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:616249", source="Orphanet:101016-prototype"} ! familial long QT syndrome
property_value: exactMatch DOID:0110656
property_value: exactMatch http://identifiers.org/omim/616249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015695

[Term]
id: MONDO:0014551
name: short stature with nonspecific skeletal abnormalities
synonym: "short stature with nonspecific skeletal abnormalities" EXACT [MONDO:Lexical, OMIM:616255]
synonym: "short stature with nonspecific skeletal abnormalities; SNSK" RELATED [OMIM:616255]
synonym: "SNSK" RELATED [MONDO:Lexical, OMIM:616255]
xref: OMIM:616255 {source="MONDO:equivalentTo"}
xref: UMLS:C4225399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225399

[Term]
id: MONDO:0014552
name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
def: "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." [Orphanet:439897]
subset: ordo_malformation_syndrome {source="Orphanet:439897"}
synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical, OMIM:616258]
synonym: "Meckel syndrome 12; MKS12" RELATED [OMIM:616258]
synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2, OMIM:616258]
synonym: "MKS12" RELATED [MONDO:Lexical, OMIM:616258]
xref: OMIM:616258 {source="MONDO:equivalentTo", source="ORDO:439897/e", source="Orphanet:439897"}
xref: Orphanet:439897 {source="MONDO:equivalentTo"}
xref: UMLS:C4015701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:439897"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015620 {source="Orphanet:439897"} ! syndromic urogenital tract malformation
is_a: MONDO:0017118 {source="Orphanet:439897"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0017119 {source="Orphanet:439897"} ! syndrome with microcephaly as major feature
is_a: MONDO:0018921 {source="DC-OMIM:616258", source="OMIM:616258"} ! Meckel syndrome
property_value: exactMatch http://identifiers.org/omim/616258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015701
property_value: exactMatch Orphanet:439897

[Term]
id: MONDO:0014553
name: Tenorio syndrome
synonym: "overgrowth, macrocephaly, and intellectual disability syndrome" RELATED [OMIM:616260]
synonym: "Tenorio syndrome" EXACT [MONDO:Lexical, OMIM:616260]
synonym: "TENORIO syndrome; TNORS" RELATED [OMIM:616260]
synonym: "TNORS" RELATED [MONDO:Lexical, OMIM:616260]
xref: OMIM:616260 {source="MONDO:equivalentTo"}
xref: UMLS:C4015710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015710

[Term]
id: MONDO:0014554
name: infantile multisystem neurologic-endocrine-pancreatic disease
subset: ordo_disease {source="Orphanet:456312"}
synonym: "IMNEPD" EXACT [MONDO:Lexical, OMIM:616263, Orphanet:456312]
synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:616263]
synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset; IMNEPD" RELATED [OMIM:616263]
xref: OMIM:616263 {source="Orphanet:456312", source="ORDO:456312/e", source="MONDO:equivalentTo"}
xref: Orphanet:456312 {source="MONDO:equivalentTo"}
xref: UMLS:C4015728 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:456312", source="indirect"} ! pancreas disease
is_a: MONDO:0015159 {source="Orphanet:456312"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015361 {source="Orphanet:456312"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0015778 {source="Orphanet:456312"} ! syndromic hypothyroidism
is_a: MONDO:0019589 {source="Orphanet:456312"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616263
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015728
property_value: exactMatch Orphanet:456312

[Term]
id: MONDO:0014555
name: peeling skin syndrome type A
def: "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." [Orphanet:263548]
subset: ordo_clinical_subtype {source="Orphanet:263548"}
synonym: "generalized deciduous skin type A" EXACT [Orphanet:263548]
synonym: "generalized peeling skin syndrome type A" EXACT [Orphanet:263548]
synonym: "non-inflammatory generalized peeling skin syndrome type A." EXACT [Orphanet:263548]
synonym: "non-inflammatory peeling skin syndrome type A" EXACT [Orphanet:263548]
synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265]
synonym: "peeling skin syndrome 3; PSS3" RELATED [OMIM:616265]
synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265]
synonym: "PSS type A" EXACT [Orphanet:263548]
synonym: "PSS3" RELATED [MONDO:Lexical, OMIM:616265]
xref: ICD10:Q80.8 {source="ORDO:263548/attributed", source="ORDO:263548/ntbt", source="Orphanet:263548"}
xref: OMIM:616265 {source="MONDO:equivalentTo", source="ORDO:263548/e", source="Orphanet:263548"}
xref: Orphanet:263548 {source="MONDO:equivalentTo", source="OMIM:616265"}
xref: UMLS:C4015729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010033 {source="MONDOLEX:0014555", source="Orphanet:263548"} ! generalized peeling skin syndrome
property_value: exactMatch http://identifiers.org/omim/616265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015729
property_value: exactMatch Orphanet:263548

[Term]
id: MONDO:0014556
name: congenital contractures of the limbs and face, hypotonia, and developmental delay
synonym: "CLIFAHDD" RELATED [MONDO:Lexical, OMIM:616266]
synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [MONDO:Lexical, OMIM:616266]
synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay; CLIFAHDD" RELATED [OMIM:616266]
xref: EFO:1001868 {source="MONDO:equivalentTo"}
xref: OMIM:616266 {source="MONDO:equivalentTo"}
xref: UMLS:C4225398 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225398

[Term]
id: MONDO:0014557
name: ataxia - oculomotor apraxia type 4
def: "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:0013111"}
subset: ordo_disease {source="Orphanet:459033"}
synonym: "AOA4" EXACT [MONDO:Lexical, OMIM:616267, Orphanet:459033]
synonym: "ataxia - oculomotor apraxia type 4" EXACT [MONDORULE:1, OMIM:616267]
synonym: "ataxia-oculomotor apraxia 4" RELATED [MONDO:Lexical, OMIM:616267]
synonym: "ataxia-oculomotor apraxia 4; AOA4" RELATED [OMIM:616267]
synonym: "ataxia-oculomotor apraxia-4" RELATED [GARD:0013111]
synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP" EXACT [MONDO:design_pattern]
synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009016 {source="MONDO:equivalentTo"}
xref: GARD:0013111 {source="MONDO:equivalentTo"}
xref: OMIM:616267 {source="MONDO:equivalentTo", source="ORDO:459033/e", source="Orphanet:459033"}
xref: Orphanet:459033 {source="MONDO:equivalentTo"}
xref: UMLS:C4225397 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018265 {source="Orphanet:459033"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0020047 {source="EFO:0009016", source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia
is_a: MONDO:0020127 {source="Orphanet:459033"} ! genetic peripheral neuropathy
is_a: MONDO:0020258 {source="MONDO:Redundant", source="Orphanet:459033"} ! oculomotor apraxia or related oculomotor disease
property_value: exactMatch http://identifiers.org/omim/616267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225397
property_value: exactMatch Orphanet:459033
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4 xsd:anyURI {source="GARD:0013111"}

[Term]
id: MONDO:0014558
name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457193"}
synonym: "autosomal dominant mental retardation 32" EXACT [DOID:0070062]
synonym: "autosomal dominant non-syndromic intellectual disability 32" RELATED [DOID:0070062]
synonym: "KAT6A Syndrome" EXACT [http://www.kat6a.org/, https://rarediseases.org/rare-diseases/kat6a-syndrome/, PMID:30245513]
synonym: "mental retardation, autosomal dominant 32" RELATED [MONDO:Lexical, OMIM:616268]
synonym: "mental retardation, autosomal dominant 32; MRD32" RELATED [OMIM:616268]
synonym: "mental retardation, autosomal dominant type 32" EXACT [MONDORULE:2, OMIM:616268]
synonym: "MRD32" EXACT [DOID:0070062, MONDO:Lexical, OMIM:616268]
xref: DOID:0070062 {source="MONDO:equivalentTo"}
xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="ORDO:457193/e", source="DOID:0070062"}
xref: Orphanet:457193 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457193", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:457193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:457193"} ! syndromic craniosynostosis
is_a: MONDO:0015506 {source="Orphanet:457193"} ! rare syndrome with cardiac malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070062"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225396
property_value: exactMatch DOID:0070062
property_value: exactMatch http://identifiers.org/omim/616268
property_value: exactMatch Orphanet:457193

[Term]
id: MONDO:0014559
name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
subset: ordo_disease {source="Orphanet:457212"}
synonym: "mental retardation, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:616269]
synonym: "mental retardation, autosomal recessive 48; MRT48" RELATED [OMIM:616269]
synonym: "mental retardation, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:616269]
synonym: "MRT48" RELATED [MONDO:Lexical, OMIM:616269]
xref: OMIM:616269 {source="MONDO:equivalentTo", source="Orphanet:457212", source="ORDO:457212/e"}
xref: Orphanet:457212 {source="MONDO:equivalentTo"}
xref: UMLS:C4225395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:457212"} ! syndromic intellectual disability
is_a: MONDO:0017663 {source="Orphanet:457212"} ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/616269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225395
property_value: exactMatch Orphanet:457212

[Term]
id: MONDO:0014560
name: amelogenesis imperfecta type 1F
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AI1F" EXACT [DOID:0110065, MONDO:Lexical, OMIM:616270]
synonym: "AMBN amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amelogenesis imperfecta caused by mutation in AMBN" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type IF" EXACT [DOID:0110065]
synonym: "amelogenesis imperfecta type IF" EXACT [DOID:0110065]
synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [OMIM:616270]
synonym: "amelogenesis imperfecta, type 1F" RELATED [OMIM:616270]
synonym: "amelogenesis imperfecta, type IF" RELATED [MONDO:Lexical, OMIM:616270]
synonym: "amelogenesis imperfecta, type IF; AI1F" RELATED [OMIM:616270]
xref: DOID:0110065 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:0110065"}
xref: OMIM:616270 {source="MONDO:equivalentTo", source="DOID:0110065"}
xref: UMLS:C4225394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015047 {source="MONDOLEX:0014560", source="ORDO:100031/btnt"} ! amelogenesis imperfecta type 1
property_value: exactMatch DOID:0110065
property_value: exactMatch http://identifiers.org/omim/616270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225394

[Term]
id: MONDO:0014561
name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." [MONDO:patterns/disease_series_by_gene]
comment: Present because it is in the OMIM series. {source="OMIM:616271"}
subset: ordo_disease {source="Orphanet:445038"}
synonym: "3-methylglutaconic aciduria caused by mutation in CLPB" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003]
synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003]
synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical, OMIM:616271]
synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN" RELATED [OMIM:616271]
synonym: "3-Methylglutaconic aciduria, type 7" RELATED [OMIM:616271]
synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [Orphanet:445038]
synonym: "CLPB 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEGCANN" EXACT [DOID:0110003, MONDO:Lexical, OMIM:616271]
synonym: "MGA7" EXACT [DOID:0110003, Orphanet:445038]
synonym: "MGCA7" EXACT [DOID:0110003]
xref: DOID:0110003 {source="MONDO:equivalentTo"}
xref: EFO:0009014 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="Orphanet:445038", source="ORDO:445038/attributed", source="ORDO:445038/ntbt"}
xref: OMIM:616271 {source="ORDO:445038/e", source="Orphanet:445038", source="MONDO:equivalentTo", source="DOID:0110003"}
xref: Orphanet:445038 {source="MONDO:equivalentTo", source="DOID:0110003"}
xref: SCTID:764860006 {source="MONDO:equivalentTo"}
xref: UMLS:C4225393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015919 {source="Orphanet:445038"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="EFO:0009014", source="MONDO:Redundant", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0020228 {source="Orphanet:445038"} ! cataract associated with a metabolic disease
property_value: exactMatch DOID:0110003
property_value: exactMatch http://identifiers.org/omim/616271
property_value: exactMatch http://identifiers.org/snomedct/764860006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225393
property_value: exactMatch Orphanet:445038

[Term]
id: MONDO:0014562
name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
subset: ordo_disease {source="Orphanet:457185"}
synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical, OMIM:616276]
synonym: "coenzyme Q10 deficiency, primary, 7; COQ10D7" RELATED [OMIM:616276]
synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1, OMIM:616276]
synonym: "COQ10D7" RELATED [MONDO:Lexical, OMIM:616276]
synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185]
synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244]
xref: DOID:0070244 {source="MONDO:equivalentTo"}
xref: OMIM:616276 {source="MONDO:equivalentTo", source="ORDO:457185/e", source="Orphanet:457185"}
xref: Orphanet:457185 {source="MONDO:equivalentTo"}
xref: UMLS:C4225392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016327 {source="Orphanet:457185"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0018151 {source="DC-OMIM:616276", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0070244
property_value: exactMatch http://identifiers.org/omim/616276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225392
property_value: exactMatch Orphanet:457185

[Term]
id: MONDO:0014563
name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
synonym: "ECHS1D" RELATED [MONDO:Lexical, OMIM:616277]
synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT [MONDO:Lexical, OMIM:616277]
synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency; ECHS1D" RELATED [OMIM:616277]
synonym: "short-chain enoyl-CoA hydratase deficiency" RELATED [GARD:0013019]
xref: GARD:0013019 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:616277 {source="MONDO:equivalentTo"}
xref: UMLS:C4225391 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016815 {source="ORDO:255241/btnt"} ! Leigh syndrome with leukodystrophy
property_value: exactMatch http://identifiers.org/omim/616277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225391

[Term]
id: MONDO:0014564
name: congenital bile acid synthesis defect 5
def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCD3 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical, OMIM:616278]
synonym: "bile acid synthesis defect, congenital, 5; CBAS5" RELATED [OMIM:616278]
synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1, OMIM:616278]
synonym: "CBAS5" EXACT [DOID:0111066, MONDO:Lexical, OMIM:616278]
synonym: "congenital bile acid synthesis defect caused by mutation in ABCD3" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 5" EXACT [DOID:0111066, MONDORULE:1]
xref: DOID:0111066 {source="MONDO:equivalentTo"}
xref: OMIM:616278 {source="MONDO:equivalentTo", source="DOID:0111066"}
is_a: MONDO:0018841 {source="DC-OMIM:616278", source="DOID:0111066", source="MONDO:Redundant", source="OMIM:616278"} ! congenital bile acid synthesis defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225390
property_value: exactMatch DOID:0111066
property_value: exactMatch http://identifiers.org/omim/616278

[Term]
id: MONDO:0014565
name: cataract 43
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 43" EXACT [MONDO:Lexical, OMIM:616279]
synonym: "cataract 43; CTRCT43" RELATED [OMIM:616279]
synonym: "cataract type 43" EXACT [DOID:0110259, MONDORULE:2, OMIM:616279]
synonym: "CTRCT43" EXACT [DOID:0110259, MONDO:Lexical, OMIM:616279]
synonym: "early-onset non-syndromic cataract caused by mutation in UNC45B" EXACT [MONDO:design_pattern]
synonym: "UNC45B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110259 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110259"}
xref: OMIM:616279 {source="DOID:0110259", source="MONDO:equivalentTo"}
xref: UMLS:C4225389 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110259
property_value: exactMatch http://identifiers.org/omim/616279
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225389

[Term]
id: MONDO:0014566
name: Charcot-Marie-Tooth disease axonal type 2U
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." [Orphanet:397735]
subset: ordo_disease {source="Orphanet:397735"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [OMIM:616280]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical, OMIM:616280]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2U; CMT2U" RELATED [OMIM:616280]
synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [DOID:0110173]
synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280]
synonym: "CMT2U" EXACT [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735]
synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110173 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:397735/attributed", source="ORDO:397735/ntbt", source="DOID:0110173", source="Orphanet:397735"}
xref: OMIM:616280 {source="MONDO:equivalentTo", source="ORDO:397735/e", source="DOID:0110173", source="Orphanet:397735"}
xref: Orphanet:397735 {source="MONDO:equivalentTo", source="OMIM:616280", source="DOID:0110173"}
xref: SCTID:765046002 {source="MONDO:equivalentTo"}
xref: UMLS:C4084821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110173", source="MONDO:Redundant", source="Orphanet:397735"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110173
property_value: exactMatch http://identifiers.org/omim/616280
property_value: exactMatch http://identifiers.org/snomedct/765046002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084821
property_value: exactMatch Orphanet:397735

[Term]
id: MONDO:0014567
name: postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:477673"}
synonym: "mental retardation, autosomal recessive 49" RELATED [MONDO:Lexical, OMIM:616281]
synonym: "mental retardation, autosomal recessive 49; MRT49" RELATED [OMIM:616281]
synonym: "mental retardation, autosomal recessive type 49" EXACT [MONDORULE:2, OMIM:616281]
synonym: "MRT49" RELATED [MONDO:Lexical, OMIM:616281]
xref: OMIM:616281 {source="Orphanet:477673", source="MONDO:equivalentTo"}
xref: Orphanet:477673 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:477673"} ! syndromic intellectual disability
is_a: MONDO:0015089 {source="Orphanet:477673"} ! autosomal recessive complex spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225388
property_value: exactMatch http://identifiers.org/omim/616281
property_value: exactMatch Orphanet:477673

[Term]
id: MONDO:0014568
name: hereditary spastic paraplegia 73
def: "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." [Orphanet:444099]
subset: ordo_disease {source="Orphanet:444099"}
synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818]
synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818]
synonym: "CPT1C autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE:2]
synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282]
synonym: "spastic paraplegia 73, autosomal dominant; SPG73" RELATED [OMIM:616282]
synonym: "SPG73" EXACT [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099]
xref: DOID:0110818 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110818", source="ORDO:444099/attributed", source="ORDO:444099/ntbt", source="Orphanet:444099"}
xref: OMIM:616282 {source="MONDO:equivalentTo", source="DOID:0110818", source="ORDO:444099/e", source="Orphanet:444099"}
xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"}
xref: UMLS:C4225387 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:444099"} ! autosomal dominant pure spastic paraplegia
property_value: exactMatch DOID:0110818
property_value: exactMatch http://identifiers.org/omim/616282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225387
property_value: exactMatch Orphanet:444099

[Term]
id: MONDO:0014569
name: lethal congenital contracture syndrome 7
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." [MONDO:design_pattern]
synonym: "CNTNAP1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS7" RELATED [MONDO:Lexical, OMIM:616286]
synonym: "lethal congenital contracture syndrome 7" EXACT [MONDO:Lexical, OMIM:616286]
synonym: "lethal congenital contracture syndrome 7; LCCS7" RELATED [OMIM:616286]
synonym: "lethal congenital contracture syndrome caused by mutation in CNTNAP1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMIM:616286]
xref: OMIM:616286 {source="MONDO:equivalentTo"}
xref: UMLS:C4225386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017049 {source="ORDO:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome
is_a: MONDO:0017436 {source="DC-OMIM:616286", source="MONDO:Redundant", source="OMIM:616286"} ! lethal congenital contracture syndrome
property_value: exactMatch http://identifiers.org/omim/616286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225386

[Term]
id: MONDO:0014570
name: lethal congenital contracture syndrome 8
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." [MONDO:design_pattern]
synonym: "ADCY6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS8" RELATED [MONDO:Lexical, OMIM:616287]
synonym: "lethal congenital contracture syndrome 8" EXACT [MONDO:Lexical, OMIM:616287]
synonym: "lethal congenital contracture syndrome 8; LCCS8" RELATED [OMIM:616287]
synonym: "lethal congenital contracture syndrome caused by mutation in ADCY6" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMIM:616287]
xref: OMIM:616287 {source="MONDO:equivalentTo"}
xref: UMLS:C4225385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017049 {source="ORDO:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome
is_a: MONDO:0017436 {source="DC-OMIM:616287", source="MONDO:Redundant", source="OMIM:616287"} ! lethal congenital contracture syndrome
property_value: exactMatch http://identifiers.org/omim/616287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225385

[Term]
id: MONDO:0014571
name: optic atrophy 9
synonym: "ACO2 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive isolated optic atrophy caused by mutation in ACO2" EXACT [MONDO:design_pattern]
synonym: "OPA9" RELATED [OMIM:616289]
synonym: "optic atrophy 9" RELATED [OMIM:616289]
synonym: "optic atrophy 9; OPA9" RELATED [OMIM:616289]
xref: OMIM:616289 {source="MONDO:equivalentTo"}
xref: UMLS:C4085249 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0014753 {source="MONDO:Redundant"} ! autosomal recessive optic atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225384
property_value: exactMatch http://identifiers.org/omim/616289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085249

[Term]
id: MONDO:0014572
name: Lichtenstein-Knorr syndrome
subset: ordo_disease {source="Orphanet:448251"}
synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [DOID:0080065]
synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [DOID:0080065, MONDORULE:2]
synonym: "Lichtenstein-Knorr syndrome" EXACT [MONDO:Lexical, OMIM:616291, Orphanet:448251]
synonym: "Lichtenstein-Knorr syndrome; LIKNS" RELATED [OMIM:616291]
synonym: "LIKNS" RELATED [MONDO:Lexical, OMIM:616291]
synonym: "progressive autosomal recessive ataxia-deafness syndrome" RELATED [Orphanet:448251]
synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome" EXACT [Orphanet:448251]
synonym: "SCAR19" EXACT [Orphanet:448251]
synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291]
xref: DOID:0080065 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="ORDO:448251/attributed", source="ORDO:448251/ntbt", source="Orphanet:448251"}
xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="ORDO:448251/e", source="Orphanet:448251"}
xref: Orphanet:448251 {source="MONDO:equivalentTo"}
xref: UMLS:C4225383 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="DOID:0080065"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0019589 {source="Orphanet:448251"} ! syndromic genetic deafness
property_value: exactMatch DOID:0080065
property_value: exactMatch http://identifiers.org/omim/616291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225383
property_value: exactMatch Orphanet:448251

[Term]
id: MONDO:0014573
name: Cole-Carpenter syndrome 2
def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CLCRP2" RELATED [MONDO:Lexical, OMIM:616294]
synonym: "Cole-Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:616294]
synonym: "COLE-CARPENTER syndrome 2; CLCRP2" RELATED [OMIM:616294]
synonym: "Cole-Carpenter syndrome caused by mutation in SEC24D" EXACT [MONDO:design_pattern]
synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:616294]
synonym: "SEC24D Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616294 {source="MONDO:equivalentTo"}
xref: UMLS:C4225382 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016085 {source="DC-OMIM:616294", source="MONDO:Redundant", source="MONDOLEX:0014573", source="OMIM:616294"} ! Cole-Carpenter syndrome
property_value: exactMatch http://identifiers.org/omim/616294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225382

[Term]
id: MONDO:0014574
name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
subset: ordo_disease {source="Orphanet:444138"}
synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" RELATED [MONDO:Lexical, OMIM:616295]
synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; plack" RELATED [OMIM:616295]
synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [Orphanet:444138]
synonym: "plack" RELATED [MONDO:Lexical, OMIM:616295]
synonym: "plack syndrome" EXACT [Orphanet:444138]
xref: ICD10:Q82.8 {source="Orphanet:444138", source="ORDO:444138/attributed", source="ORDO:444138/ntbt"}
xref: OMIM:616295 {source="ORDO:444138/e", source="Orphanet:444138", source="MONDO:equivalentTo"}
xref: Orphanet:444138 {source="MONDO:equivalentTo"}
xref: UMLS:C4225381 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016518 {source="Orphanet:444138"} ! isolated punctate palmoplantar keratoderma
is_a: MONDO:0017262 {source="Orphanet:444138"} ! inherited non-syndromic ichthyosis
property_value: exactMatch http://identifiers.org/omim/616295
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225381
property_value: exactMatch Orphanet:444138

[Term]
id: MONDO:0014575
name: Singleton-Merten syndrome 2
def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DDX58 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGMRT2" RELATED [MONDO:Lexical, OMIM:616298]
synonym: "singleton-Merten dysplasia caused by mutation in DDX58" EXACT [MONDO:design_pattern]
synonym: "singleton-Merten syndrome 2" EXACT [MONDO:Lexical, OMIM:616298]
synonym: "singleton-Merten syndrome 2; SGMRT2" RELATED [OMIM:616298]
synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298]
xref: OMIM:616298 {source="MONDO:equivalentTo"}
xref: UMLS:C4225380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:616298", source="ORDO:85191/btnt"} ! singleton-Merten dysplasia
property_value: exactMatch http://identifiers.org/omim/616298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225380

[Term]
id: MONDO:0014576
name: lipoyl transferase 1 deficiency
subset: ordo_disease {source="Orphanet:401862"}
synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299]
synonym: "lipoyltransferase 1 deficiency; LIPT1D" RELATED [OMIM:616299]
synonym: "LIPT1D" RELATED [MONDO:Lexical, OMIM:616299]
xref: ICD10:E88.8 {source="Orphanet:401862", source="ORDO:401862/attributed", source="ORDO:401862/ntbt"}
xref: OMIM:616299 {source="Orphanet:401862", source="ORDO:401862/e", source="MONDO:equivalentTo"}
xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"}
xref: UMLS:C4225379 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018424 {source="Orphanet:401862"} ! inherited lipoic acid biosynthesis defect
property_value: exactMatch http://identifiers.org/omim/616299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225379
property_value: exactMatch Orphanet:401862

[Term]
id: MONDO:0014577
name: short-rib thoracic dysplasia 13 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23." [DOID:0110093, PMID:25361962]
synonym: "short-rib thoracic dysplasia 13 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:616300]
synonym: "short-rib thoracic dysplasia 13 with or without polydactyly; SRTD13" RELATED [OMIM:616300]
synonym: "SRTD13" EXACT [DOID:0110093, MONDO:Lexical, OMIM:616300]
xref: DOID:0110093 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.2 {source="DOID:0110093"}
xref: OMIM:616300 {source="DOID:0110093", source="MONDO:equivalentTo"}
xref: UMLS:C4225378 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0110093", source="OMIM:616300"} ! Jeune syndrome
property_value: exactMatch DOID:0110093
property_value: exactMatch http://identifiers.org/omim/616300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225378

[Term]
id: MONDO:0014578
name: congenital myasthenic syndrome 17
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS17" EXACT [DOID:0110674, MONDO:Lexical, OMIM:616304]
synonym: "congenital myasthenic syndrome caused by mutation in LRP4" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 17" EXACT [DOID:0110674, MONDORULE:2]
synonym: "LRP4 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical, OMIM:616304]
synonym: "myasthenic syndrome, congenital, 17; CMS17" RELATED [OMIM:616304]
synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2, OMIM:616304]
xref: DOID:0110674 {source="MONDO:equivalentTo"}
xref: OMIM:616304 {source="MONDO:equivalentTo", source="DOID:0110674"}
xref: UMLS:C4225377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110674
property_value: exactMatch http://identifiers.org/omim/616304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225377

[Term]
id: MONDO:0014579
name: Senior-Loken syndrome 8
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 8" EXACT [MONDO:Lexical, OMIM:616307]
synonym: "SENIOR-Loken syndrome 8; SLSN8" RELATED [OMIM:616307]
synonym: "Senior-Loken syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1, OMIM:616307]
synonym: "SLSN8" RELATED [MONDO:Lexical, OMIM:616307]
synonym: "WDR19 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616307 {source="MONDO:equivalentTo"}
xref: UMLS:C4225376 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017842 {source="DC-OMIM:616307", source="MONDO:Redundant", source="OMIM:616307"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/omim/616307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225376

[Term]
id: MONDO:0014580
name: intellectual disability, autosomal dominant 33
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 33" EXACT [DOID:0070063]
synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [DOID:0070063]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6" EXACT [MONDO:design_pattern]
synonym: "DPP6 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 33" RELATED [MONDO:Lexical, OMIM:616311]
synonym: "mental retardation, autosomal dominant 33; MRD33" RELATED [OMIM:616311]
synonym: "mental retardation, autosomal dominant type 33" EXACT [MONDORULE:2, OMIM:616311]
synonym: "MRD33" EXACT [DOID:0070063, MONDO:Lexical, OMIM:616311]
xref: DOID:0070063 {source="MONDO:equivalentTo"}
xref: OMIM:616311 {source="MONDO:equivalentTo", source="DOID:0070063"}
is_a: MONDO:0015802 {source="DOID:0070063", source="MONDO:Redundant", source="OMIM:616311"} ! autosomal dominant non-syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0007988 {source="ORDO:2514/btnt"} ! autosomal dominant primary microcephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225375
property_value: exactMatch DOID:0070063
property_value: exactMatch http://identifiers.org/omim/616311

[Term]
id: MONDO:0014581
name: congenital myasthenic syndrome 2A
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110681, PMID:25792100, PMID:8872460]
synonym: "CMS IIa" RELATED [GARD:0009895]
synonym: "CMS2A" EXACT [DOID:0110681, MONDO:Lexical, OMIM:616313]
synonym: "CMS2A" RELATED [GARD:0009895]
synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [DOID:0110681]
synonym: "congenital myasthenic syndrome type 2A" EXACT [DOID:0110681, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 2A, slow-channel" RELATED [MONDO:Lexical, OMIM:616313]
synonym: "myasthenic syndrome, congenital, 2A, slow-channel; CMS2A" RELATED [OMIM:616313]
synonym: "myasthenic syndrome, congenital, postsynaptic slow-channel" RELATED [GARD:0009895]
synonym: "myasthenic syndrome, congenital, slow-channel" RELATED [GARD:0009895]
synonym: "myasthenic syndrome, congenital, type IIa" RELATED [GARD:0009895]
synonym: "SCCMS" RELATED [GARD:0009895]
synonym: "slow channel congenital myasthenic syndrome" RELATED [GARD:0009895]
xref: DOID:0110681 {source="MONDO:equivalentTo"}
xref: GARD:0009895 {source="MONDO:equivalentTo"}
xref: OMIM:616313 {source="MONDO:equivalentTo", source="DOID:0110681"}
xref: UMLS:C4225374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110681
property_value: exactMatch http://identifiers.org/omim/616313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225374

[Term]
id: MONDO:0014582
name: congenital myasthenic syndrome 2C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110680, PMID:10562302, PMID:25792100]
synonym: "CMS2C" EXACT [DOID:0110680, MONDO:Lexical, OMIM:616314]
synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [DOID:0110680]
synonym: "congenital myasthenic syndrome type 2C" EXACT [DOID:0110680, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616314]
synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C" RELATED [OMIM:616314]
xref: DOID:0110680 {source="MONDO:equivalentTo"}
xref: OMIM:616314 {source="MONDO:equivalentTo", source="DOID:0110680"}
xref: UMLS:C4225373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110680
property_value: exactMatch http://identifiers.org/omim/616314
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225373

[Term]
id: MONDO:0014583
name: congenital myasthenic syndrome 3A
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110666, PMID:11782989, PMID:25792100]
synonym: "CMS3A" EXACT [DOID:0110666, MONDO:Lexical, OMIM:616321]
synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [DOID:0110666]
synonym: "congenital myasthenic syndrome type 3A" EXACT [DOID:0110666, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3A, slow-channel" RELATED [MONDO:Lexical, OMIM:616321]
synonym: "myasthenic syndrome, congenital, 3A, slow-channel; CMS3A" RELATED [OMIM:616321]
xref: DOID:0110666 {source="MONDO:equivalentTo"}
xref: OMIM:616321 {source="DOID:0110666", source="MONDO:equivalentTo"}
xref: UMLS:C4225372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110666
property_value: exactMatch http://identifiers.org/omim/616321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225372

[Term]
id: MONDO:0014584
name: congenital myasthenic syndrome 3B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110665, PMID:11435464, PMID:25792100]
synonym: "CMS3B" EXACT [DOID:0110665, MONDO:Lexical, OMIM:616322]
synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [DOID:0110665]
synonym: "congenital myasthenic syndrome type 3B" EXACT [DOID:0110665, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616322]
synonym: "myasthenic syndrome, congenital, 3B, FAST-channel; CMS3B" RELATED [OMIM:616322]
xref: DOID:0110665 {source="MONDO:equivalentTo"}
xref: OMIM:616322 {source="DOID:0110665", source="MONDO:equivalentTo"}
xref: UMLS:C4225371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110665
property_value: exactMatch http://identifiers.org/omim/616322
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225371

[Term]
id: MONDO:0014585
name: congenital myasthenic syndrome 3C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110664, PMID:16916845]
synonym: "CMS3C" RELATED [MONDO:Lexical, OMIM:616323]
synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [DOID:0110664]
synonym: "congenital myasthenic syndrome type 3C" EXACT [DOID:0110664, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616323]
synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C" RELATED [OMIM:616323]
xref: DOID:0110664 {source="MONDO:equivalentTo"}
xref: OMIM:616323 {source="MONDO:equivalentTo", source="DOID:0110664"}
xref: UMLS:C4225370 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110664
property_value: exactMatch http://identifiers.org/omim/616323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225370

[Term]
id: MONDO:0014586
name: congenital myasthenic syndrome 4B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110677, PMID:25792100, PMID:8755487]
synonym: "CMS4B" EXACT [DOID:0110677, MONDO:Lexical, OMIM:616324]
synonym: "congenital myasthenic syndrome 4B fast-channel" EXACT [DOID:0110677]
synonym: "congenital myasthenic syndrome type 4B" EXACT [DOID:0110677, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 4B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616324]
synonym: "myasthenic syndrome, congenital, 4B, FAST-channel; CMS4B" RELATED [OMIM:616324]
xref: DOID:0110677 {source="MONDO:equivalentTo"}
xref: OMIM:616324 {source="DOID:0110677", source="MONDO:equivalentTo"}
xref: UMLS:C4225369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110677
property_value: exactMatch http://identifiers.org/omim/616324
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225369

[Term]
id: MONDO:0014587
name: congenital myasthenic syndrome 9
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS9" EXACT [DOID:0110670, MONDO:Lexical, OMIM:616325]
synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [DOID:0110670]
synonym: "congenital myasthenic syndrome caused by mutation in MUSK" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 9" EXACT [DOID:0110670, MONDORULE:1]
synonym: "MUSK congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616325]
synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9" RELATED [OMIM:616325]
xref: DOID:0110670 {source="MONDO:equivalentTo"}
xref: OMIM:616325 {source="MONDO:equivalentTo", source="DOID:0110670"}
xref: UMLS:C4225368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110670
property_value: exactMatch http://identifiers.org/omim/616325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225368

[Term]
id: MONDO:0014588
name: congenital myasthenic syndrome 11
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS Ie" EXACT [DOID:0110675]
synonym: "Cms Ie" RELATED [OMIM:616326]
synonym: "Cms Ie, formerly" RELATED [OMIM:616326]
synonym: "CMS11" EXACT [DOID:0110675, MONDO:Lexical, OMIM:616326]
synonym: "CMS1E" EXACT [DOID:0110675]
synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [DOID:0110675]
synonym: "congenital myasthenic syndrome 1e" EXACT [DOID:0110675]
synonym: "congenital myasthenic syndrome caused by mutation in RAPSN" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 11" EXACT [DOID:0110675, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616326]
synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; CMS11" RELATED [OMIM:616326]
synonym: "myasthenic syndrome, congenital, Ie" RELATED [OMIM:616326]
synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [OMIM:616326]
synonym: "RAPSN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110675 {source="MONDO:equivalentTo"}
xref: MESH:C563831 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616326 {source="MONDO:equivalentTo", source="DOID:0110675"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837094
property_value: exactMatch DOID:0110675
property_value: exactMatch http://identifiers.org/mesh/C563831
property_value: exactMatch http://identifiers.org/omim/616326

[Term]
id: MONDO:0014589
name: maturity-onset diabetes of the young type 13
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "KCNJ11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11" EXACT []
synonym: "maturity-onset diabetes of the young, type 13" RELATED [MONDO:Lexical, OMIM:616329]
synonym: "maturity-onset diabetes of the young, type 13; MODY13" RELATED [OMIM:616329]
synonym: "MODY type 13" EXACT [DOID:0111110]
synonym: "MODY, type 13" RELATED [OMIM:616329]
synonym: "MODY13" EXACT [DOID:0111110, MONDO:Lexical, OMIM:616329]
xref: DOID:0111110 {source="MONDO:equivalentTo"}
xref: OMIM:616329 {source="MONDO:equivalentTo", source="DOID:0111110"}
xref: UMLS:C4225365 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:616329", source="DOID:0111110", source="MONDO:Redundant"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111110
property_value: exactMatch http://identifiers.org/omim/616329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225365

[Term]
id: MONDO:0014590
name: congenital myasthenic syndrome 18
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS18" EXACT [DOID:0110683, MONDO:Lexical, OMIM:616330]
synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 18" EXACT [DOID:0110683, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical, OMIM:616330]
synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [OMIM:616330]
synonym: "myasthenic syndrome, congenital, 18; CMS18" RELATED [OMIM:616330]
synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2, OMIM:616330]
synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110683 {source="MONDO:equivalentTo"}
xref: OMIM:616330 {source="MONDO:equivalentTo", source="DOID:0110683"}
xref: UMLS:C4225364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110683
property_value: exactMatch http://identifiers.org/omim/616330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225364

[Term]
id: MONDO:0014591
name: autosomal dominant Robinow syndrome 2
def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Robinow syndrome caused by mutation in DVL1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant Robinow syndrome type 2" EXACT [DOID:0060765, MONDORULE:1]
synonym: "DRS2" EXACT [DOID:0060765, MONDO:Lexical, OMIM:616331]
synonym: "DVL1 autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:616331]
synonym: "Robinow syndrome, autosomal dominant 2; DRS2" RELATED [OMIM:616331]
synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616331]
xref: DOID:0060765 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:0060765"}
xref: OMIM:616331 {source="DOID:0060765", source="MONDO:equivalentTo"}
xref: UMLS:C4225363 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008389 {source="MONDO:Redundant", source="MONDOLEX:0014591", source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome
property_value: exactMatch DOID:0060765
property_value: exactMatch http://identifiers.org/omim/616331
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225363

[Term]
id: MONDO:0014592
name: microcephaly and chorioretinopathy 3
def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCCRP3" RELATED [MONDO:Lexical, OMIM:616335]
synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 3" EXACT [DOID:0080107, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:616335]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3; MCCRP3" RELATED [OMIM:616335]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1, OMIM:616335]
synonym: "TUBGCP4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080107 {source="MONDO:equivalentTo"}
xref: OMIM:616335 {source="MONDO:equivalentTo", source="DOID:0080107"}
xref: UMLS:C4225362 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000181 {source="MONDO:Redundant", source="OMIM:616335", source="indirect"} ! microcephaly and chorioretinopathy
property_value: exactMatch DOID:0080107
property_value: exactMatch http://identifiers.org/omim/616335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225362

[Term]
id: MONDO:0014593
name: epileptic encephalopathy, early infantile, 29
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in AARS" EXACT [MONDO:design_pattern]
synonym: "EIEE29" RELATED [MONDO:Lexical, OMIM:616339]
synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339]
synonym: "epileptic encephalopathy, early infantile, 29; EIEE29" RELATED [OMIM:616339]
synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2, OMIM:616339]
xref: OMIM:616339 {source="MONDO:equivalentTo"}
xref: UMLS:C4225361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225361

[Term]
id: MONDO:0014594
name: autosomal dominant nonsyndromic deafness 67
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 67" EXACT [DOID:0110588]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 67" EXACT [DOID:0110588, MONDORULE:2]
synonym: "deafness, autosomal dominant 67" RELATED [MONDO:Lexical, OMIM:616340]
synonym: "deafness, autosomal dominant 67; DFNA67" RELATED [OMIM:616340]
synonym: "deafness, autosomal dominant type 67" EXACT [MONDORULE:2, OMIM:616340]
synonym: "DFNA67" EXACT [DOID:0110588, MONDO:Lexical, OMIM:616340]
synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110588 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110588"}
xref: OMIM:616340 {source="DOID:0110588", source="MONDO:equivalentTo"}
xref: UMLS:C4084712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616340", source="DOID:0110588", source="MONDO:Redundant", source="OMIM:616340"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110588
property_value: exactMatch http://identifiers.org/omim/616340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084712

[Term]
id: MONDO:0014595
name: epileptic encephalopathy, early infantile, 30
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern]
synonym: "EIEE30" RELATED [MONDO:Lexical, OMIM:616341]
synonym: "epileptic encephalopathy, early infantile, 30" EXACT [MONDO:Lexical, OMIM:616341]
synonym: "epileptic encephalopathy, early infantile, 30; EIEE30" RELATED [OMIM:616341]
synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2, OMIM:616341]
synonym: "SIK1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616341 {source="MONDO:equivalentTo"}
xref: UMLS:C4225360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/616341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225360

[Term]
id: MONDO:0014596
name: lissencephaly 7 with cerebellar hypoplasia
synonym: "LIS7" RELATED [MONDO:Lexical, OMIM:616342]
synonym: "lissencephaly 7 with cerebellar hypoplasia" EXACT [MONDO:Lexical, OMIM:616342]
synonym: "lissencephaly 7 with cerebellar hypoplasia; LIS7" RELATED [OMIM:616342]
xref: OMIM:616342 {source="MONDO:equivalentTo"}
xref: UMLS:C4225359 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="DC-OMIM:616342", source="OMIM:616342"} ! lissencephaly spectrum disorders
property_value: exactMatch http://identifiers.org/omim/616342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225359

[Term]
id: MONDO:0014597
name: immunodeficiency 39
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IMD39" RELATED [MONDO:Lexical, OMIM:616345]
synonym: "immunodeficiency 39" EXACT [MONDO:Lexical, OMIM:616345]
synonym: "immunodeficiency 39; IMD39" RELATED [OMIM:616345]
synonym: "immunodeficiency type 39" EXACT [MONDORULE:2, OMIM:616345]
synonym: "IRF7 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary immunodeficiency disease caused by mutation in IRF7" EXACT [MONDO:design_pattern]
xref: OMIM:616345 {source="MONDO:equivalentTo"}
xref: UMLS:C4225358 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:616345", source="MONDO:Redundant"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/616345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225358

[Term]
id: MONDO:0014598
name: epileptic encephalopathy, early infantile, 31
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern]
synonym: "EIEE31" RELATED [MONDO:Lexical, OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, 31; EIEE31" RELATED [OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2, OMIM:616346]
xref: OMIM:616346 {source="MONDO:equivalentTo"}
xref: UMLS:C4225357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225357

[Term]
id: MONDO:0014599
name: intellectual disability, autosomal dominant 34
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 34" EXACT [DOID:0070064]
synonym: "autosomal dominant non-syndromic intellectual disability 34" RELATED [DOID:0070064]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP" EXACT [MONDO:design_pattern]
synonym: "COL4A3BP autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 34" RELATED [MONDO:Lexical, OMIM:616351]
synonym: "mental retardation, autosomal dominant 34; MRD34" RELATED [OMIM:616351]
synonym: "mental retardation, autosomal dominant type 34" EXACT [MONDORULE:2, OMIM:616351]
synonym: "MRD34" EXACT [DOID:0070064, MONDO:Lexical, OMIM:616351]
xref: DOID:0070064 {source="MONDO:equivalentTo"}
xref: OMIM:616351 {source="DOID:0070064", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616351", source="DOID:0070064", source="MONDO:Redundant", source="OMIM:616351"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225156
property_value: exactMatch DOID:0070064
property_value: exactMatch http://identifiers.org/omim/616351

[Term]
id: MONDO:0014600
name: dyskeratosis congenita, autosomal recessive 6
def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [DOID:0070024]
synonym: "DKCB6" EXACT [DOID:0070024, MONDO:Lexical, OMIM:616353]
synonym: "dyskeratosis congenita caused by mutation in PARN" EXACT [MONDO:design_pattern]
synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, OMIM:616353]
synonym: "dyskeratosis congenita, autosomal recessive 6; DKCB6" RELATED [OMIM:616353]
synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:616353]
synonym: "PARN dyskeratosis congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070024 {source="MONDO:equivalentTo"}
xref: OMIM:616353 {source="DOID:0070024", source="MONDO:equivalentTo"}
xref: UMLS:C4225356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015780 {source="DOID:0070024", source="MONDO:Redundant", source="OMIM:616353"} ! dyskeratosis congenita
property_value: exactMatch DOID:0070024
property_value: exactMatch http://identifiers.org/omim/616353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225356

[Term]
id: MONDO:0014601
name: autosomal recessive spinocerebellar ataxia 20
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:397709"}
synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709]
synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" EXACT [Orphanet:397709]
synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [Orphanet:397709]
synonym: "SCAR20" EXACT [MONDO:Lexical, OMIM:616354, Orphanet:397709]
synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354]
synonym: "spinocerebellar ataxia, autosomal recessive 20; SCAR20" RELATED [OMIM:616354]
synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354]
xref: DOID:0080066 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:397709", source="ORDO:397709/attributed", source="ORDO:397709/ntbt"}
xref: OMIM:616354 {source="Orphanet:397709", source="ORDO:397709/e", source="DOID:0080066", source="MONDO:equivalentTo"}
xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"}
xref: UMLS:C4225355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397709", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:397709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0017118 {source="MONDO:Entailed", source="Orphanet:397709", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0080066
property_value: exactMatch http://identifiers.org/omim/616354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225355
property_value: exactMatch Orphanet:397709

[Term]
id: MONDO:0014602
name: intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." [DOID:0070065]
subset: ordo_malformation_syndrome {source="Orphanet:457279"}
synonym: "autosomal dominant mental retardation 35" EXACT [DOID:0070065]
synonym: "autosomal dominant non-syndromic intellectual disability 35" RELATED [DOID:0070065]
synonym: "mental retardation, autosomal dominant 35" RELATED [MONDO:Lexical, OMIM:616355]
synonym: "mental retardation, autosomal dominant 35; MRD35" RELATED [OMIM:616355]
synonym: "mental retardation, autosomal dominant type 35" EXACT [MONDORULE:2, OMIM:616355]
synonym: "MRD35" EXACT [DOID:0070065, MONDO:Lexical, OMIM:616355]
xref: DOID:0070065 {source="MONDO:equivalentTo"}
xref: OMIM:616355 {source="DOID:0070065", source="Orphanet:457279", source="MONDO:equivalentTo", source="ORDO:457279/e"}
xref: Orphanet:457279 {source="MONDO:equivalentTo"}
xref: UMLS:C4225354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457279", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:457279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070065"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070065
property_value: exactMatch http://identifiers.org/omim/616355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225354
property_value: exactMatch Orphanet:457279

[Term]
id: MONDO:0014603
name: autosomal dominant nonsyndromic deafness 40
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 40" EXACT [DOID:0110566]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 40" EXACT [DOID:0110566, MONDORULE:2]
synonym: "CRYM autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 40" RELATED [MONDO:Lexical, OMIM:616357]
synonym: "deafness, autosomal dominant 40; DFNA40" RELATED [OMIM:616357]
synonym: "deafness, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616357]
synonym: "DFNA40" EXACT [DOID:0110566, MONDO:Lexical, OMIM:616357]
xref: DOID:0110566 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110566"}
xref: OMIM:616357 {source="DOID:0110566", source="MONDO:equivalentTo"}
xref: UMLS:C4084708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616357", source="DOID:0110566", source="MONDO:Redundant", source="OMIM:616357"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110566
property_value: exactMatch http://identifiers.org/omim/616357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084708

[Term]
id: MONDO:0014604
name: Parkinson disease 21
def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNAJC13 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in DNAJC13" EXACT [MONDO:design_pattern]
synonym: "PARK21" RELATED [MONDO:Lexical, OMIM:616361]
synonym: "Parkinson disease 21" EXACT [MONDO:Lexical, OMIM:616361]
synonym: "Parkinson disease 21; PARK21" RELATED [OMIM:616361]
synonym: "Parkinson disease type 21" EXACT [MONDORULE:2, OMIM:616361]
xref: OMIM:616361 {source="MONDO:equivalentTo"}
xref: UMLS:C4225353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018466 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! hereditary late onset Parkinson disease
property_value: exactMatch http://identifiers.org/omim/616361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225353

[Term]
id: MONDO:0014605
name: microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457284"}
synonym: "autosomal dominant mental retardation 36" EXACT [DOID:0070066]
synonym: "autosomal dominant non-syndromic intellectual disability 36" RELATED [DOID:0070066]
synonym: "mental retardation, autosomal dominant 36" RELATED [MONDO:Lexical, OMIM:616362]
synonym: "mental retardation, autosomal dominant 36; MRD36" RELATED [OMIM:616362]
synonym: "mental retardation, autosomal dominant type 36" EXACT [MONDORULE:2, OMIM:616362]
synonym: "MRD36" EXACT [DOID:0070066, MONDO:Lexical, OMIM:616362]
xref: DOID:0070066 {source="MONDO:equivalentTo"}
xref: OMIM:616362 {source="DOID:0070066", source="MONDO:equivalentTo", source="ORDO:457284/e", source="Orphanet:457284"}
xref: Orphanet:457284 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457284", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:457284"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070066"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225352
property_value: exactMatch DOID:0070066
property_value: exactMatch http://identifiers.org/omim/616362
property_value: exactMatch Orphanet:457284

[Term]
id: MONDO:0014606
name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678]
subset: ordo_disease {source="Orphanet:468678"}
synonym: "autosomal dominant mental retardation 37" EXACT [DOID:0070067]
synonym: "mental retardation, autosomal dominant 37" RELATED [MONDO:Lexical, OMIM:616364]
synonym: "mental retardation, autosomal dominant 37; MRD37" RELATED [OMIM:616364]
synonym: "mental retardation, autosomal dominant type 37" EXACT [MONDORULE:2, OMIM:616364]
synonym: "MRD37" EXACT [DOID:0070067, MONDO:Lexical, OMIM:616364]
synonym: "White-Sutton syndrome" RELATED [DOID:0070067, OMIM:616364]
synonym: "WHITE-Sutton syndrome; WHSUS" RELATED [OMIM:616364]
synonym: "WHSUS" EXACT [DOID:0070067]
xref: DOID:0070067 {source="MONDO:equivalentTo"}
xref: EFO:0009079 {source="MONDO:equivalentTo"}
xref: OMIM:616364 {source="DOID:0070067", source="Orphanet:468678", source="MONDO:equivalentTo"}
xref: Orphanet:468678 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:468678", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:468678"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070067"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225351
property_value: exactMatch DOID:0070067
property_value: exactMatch http://identifiers.org/omim/616364
property_value: exactMatch Orphanet:468678

[Term]
id: MONDO:0014607
name: epileptic encephalopathy, early infantile, 32
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNA2" EXACT [MONDO:design_pattern]
synonym: "EIEE32" RELATED [MONDO:Lexical, OMIM:616366]
synonym: "epileptic encephalopathy, early infantile, 32" EXACT [MONDO:Lexical, OMIM:616366]
synonym: "epileptic encephalopathy, early infantile, 32; EIEE32" RELATED [OMIM:616366]
synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2, OMIM:616366]
synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616366 {source="MONDO:equivalentTo"}
xref: UMLS:C4225350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616366
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225350

[Term]
id: MONDO:0014608
name: mandibulofacial dysostosis with alopecia
def: "A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [DOID:0060365, PMID:25772936]
subset: ordo_malformation_syndrome {source="Orphanet:443995"}
synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367]
synonym: "mandibulofacial dysostosis with alopecia; MFDA" RELATED [OMIM:616367]
synonym: "MFDA" EXACT [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995]
xref: DOID:0060365 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.4 {source="Orphanet:443995", source="ORDO:443995/attributed", source="ORDO:443995/ntbt"}
xref: OMIM:616367 {source="DOID:0060365", source="ORDO:443995/e", source="Orphanet:443995", source="MONDO:equivalentTo"}
xref: Orphanet:443995 {source="MONDO:equivalentTo"}
xref: UMLS:C4225349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015483 {source="Orphanet:443995"} ! mandibulofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:443995"} ! syndromic genetic deafness
is_a: MONDO:0019710 {source="Orphanet:443995", source="Orphanet:443995/inferred"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:443995"} ! genetic alopecia
property_value: exactMatch DOID:0060365
property_value: exactMatch http://identifiers.org/omim/616367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225349
property_value: exactMatch Orphanet:443995

[Term]
id: MONDO:0014609
name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:444077"}
synonym: "CHOPS" RELATED [MONDO:Lexical, OMIM:616368]
synonym: "CHOPS syndrome" EXACT [MONDO:Lexical, OMIM:616368, Orphanet:444077]
synonym: "CHOPS syndrome; CHOPS" RELATED [OMIM:616368]
synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [OMIM:616368]
xref: EFO:0009031 {source="MONDO:equivalentTo"}
xref: GARD:0012845 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:444077/attributed", source="ORDO:444077/ntbt", source="Orphanet:444077"}
xref: OMIM:616368 {source="MONDO:equivalentTo", source="ORDO:444077/e", source="Orphanet:444077"}
xref: Orphanet:444077 {source="MONDO:equivalentTo"}
xref: SCTID:764455002 {source="MONDO:equivalentTo"}
xref: UMLS:C4085597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444077", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:444077"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:444077"} ! malformation syndrome with short stature
is_a: MONDO:0015506 {source="Orphanet:444077"} ! rare syndrome with cardiac malformations
is_a: MONDO:0016565 {source="Orphanet:444077"} ! syndromic genetic obesity
is_a: MONDO:0019066 {source="EFO:0009031", source="Orphanet:444077", source="Orphanet:444077/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616368
property_value: exactMatch http://identifiers.org/snomedct/764455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085597
property_value: exactMatch Orphanet:444077

[Term]
id: MONDO:0014610
name: obsolete ciliary dyskinesia, primary, 31
synonym: "moved to 243605" RELATED [OMIM:616369]
is_obsolete: true
replaced_by: MONDO:0009477

[Term]
id: MONDO:0014611
name: multiple mitochondrial dysfunctions syndrome 4
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:457406"}
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern]
synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MMDS4" RELATED [MONDO:Lexical, OMIM:616370]
synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370]
synonym: "multiple mitochondrial dysfunctions syndrome 4; MMDS4" RELATED [OMIM:616370]
synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370]
xref: DOID:0080136 {source="MONDO:equivalentTo"}
xref: OMIM:616370 {source="ORDO:457406/e", source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406"}
xref: Orphanet:457406 {source="MONDO:equivalentTo"}
xref: UMLS:C4225348 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome
is_a: MONDO:0018609 {source="Orphanet:457406"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019046 {source="Orphanet:457406"} ! leukodystrophy
property_value: exactMatch DOID:0080136
property_value: exactMatch http://identifiers.org/omim/616370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225348
property_value: exactMatch Orphanet:457406

[Term]
id: MONDO:0014612
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PFBMFT4" RELATED [MONDO:Lexical, OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical, OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4; PFBMFT4" RELATED [OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" EXACT [MONDORULE:1, OMIM:616371]
xref: OMIM:616371 {source="MONDO:equivalentTo"}
xref: UMLS:C4225347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000148 {source="DC-OMIM:616371", source="MONDOLEX:0014612", source="OMIM:616371", source="indirect"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0008345 {source="ORDO:2032/btnt"} ! idiopathic pulmonary fibrosis
property_value: exactMatch http://identifiers.org/omim/616371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225347

[Term]
id: MONDO:0014613
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PFBMFT3" RELATED [MONDO:Lexical, OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical, OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3; PFBMFT3" RELATED [OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" EXACT [MONDORULE:1, OMIM:616373]
synonym: "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616373 {source="MONDO:equivalentTo"}
xref: UMLS:C4225346 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000148 {source="DC-OMIM:616373", source="MONDOLEX:0014613", source="OMIM:616373", source="indirect"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0008345 {source="ORDO:2032/btnt"} ! idiopathic pulmonary fibrosis
property_value: exactMatch http://identifiers.org/omim/616373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225346

[Term]
id: MONDO:0014614
name: congenital stationary night blindness 1G
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110714, PMID:22190596]
synonym: "congenital stationary night blindness type 1G" EXACT [DOID:0110714, MONDORULE:4]
synonym: "CSNB1G" EXACT [DOID:0110714, MONDO:Lexical, OMIM:616389]
synonym: "night blindness, congenital stationary, type 1G" RELATED [MONDO:Lexical, OMIM:616389]
synonym: "night blindness, congenital stationary, type 1G; CSNB1G" RELATED [OMIM:616389]
xref: DOID:0110714 {source="MONDO:equivalentTo"}
xref: OMIM:616389 {source="DOID:0110714", source="MONDO:equivalentTo"}
xref: UMLS:C4225345 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016293 {source="DC-OMIM:616389", source="DOID:0110714", source="MONDO:Redundant", source="MONDOLEX:0014614", source="OMIM:616389"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110714
property_value: exactMatch http://identifiers.org/omim/616389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225345

[Term]
id: MONDO:0014615
name: trichothiodystrophy 2, photosensitive
synonym: "trichothiodystrophy 2, photosensitive" EXACT [MONDO:Lexical, OMIM:616390]
synonym: "trichothiodystrophy 2, photosensitive; TTD2" RELATED [OMIM:616390]
synonym: "TTD2" RELATED [MONDO:Lexical, OMIM:616390]
xref: OMIM:616390 {source="MONDO:equivalentTo"}
xref: UMLS:C4225344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002470 {source="DC-OMIM:616390", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
property_value: exactMatch http://identifiers.org/omim/616390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225344

[Term]
id: MONDO:0014616
name: Skint1-like pseudogene
synonym: "Skint1-like pseudogene" EXACT [MONDO:Lexical, OMIM:616392]
synonym: "SKINT1-like pseudogene; SKINTL" RELATED [OMIM:616392]
synonym: "Skint1L" RELATED [OMIM:616392]
synonym: "SKINTL" RELATED [MONDO:Lexical, OMIM:616392]
synonym: "Skintp" RELATED [OMIM:616392]
xref: OMIM:616392 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4085348
property_value: exactMatch http://identifiers.org/omim/616392

[Term]
id: MONDO:0014617
name: intellectual disability, autosomal dominant 38
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 38" EXACT [DOID:0070068]
synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [DOID:0070068]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2" EXACT [MONDO:design_pattern]
synonym: "EEF1A2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 38" RELATED [MONDO:Lexical, OMIM:616393]
synonym: "mental retardation, autosomal dominant 38; MRD38" RELATED [OMIM:616393]
synonym: "mental retardation, autosomal dominant type 38" EXACT [MONDORULE:2, OMIM:616393]
synonym: "MRD38" EXACT [DOID:0070068, MONDO:Lexical, OMIM:616393]
synonym: "PRELDS" EXACT [DOID:0070068]
synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [DOID:0070068, OMIM:616393]
xref: DOID:0070068 {source="MONDO:equivalentTo"}
xref: OMIM:616393 {source="DOID:0070068", source="MONDO:equivalentTo"}
xref: UMLS:C4225343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616393", source="DOID:0070068", source="MONDO:Redundant", source="OMIM:616393"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070068
property_value: exactMatch http://identifiers.org/omim/616393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225343

[Term]
id: MONDO:0014618
name: retinitis pigmentosa 71
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394]
synonym: "retinitis pigmentosa 71; RP71" RELATED [OMIM:616394]
synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394]
synonym: "RP71" EXACT [DOID:0110363, MONDO:Lexical, OMIM:616394]
xref: DOID:0110363 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110363"}
xref: OMIM:616394 {source="MONDO:equivalentTo", source="DOID:0110363"}
xref: UMLS:C4225342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:616394", source="DOID:0110363", source="MONDO:Redundant", source="OMIM:616394"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110363
property_value: exactMatch http://identifiers.org/omim/616394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225342

[Term]
id: MONDO:0014619
name: trichothiodystrophy 3, photosensitive
synonym: "trichothiodystrophy 3, photosensitive" EXACT [MONDO:Lexical, OMIM:616395]
synonym: "trichothiodystrophy 3, photosensitive; TTD3" RELATED [OMIM:616395]
synonym: "trichothiodystrophy, complementation group A" RELATED [OMIM:616395]
synonym: "TTD3" RELATED [MONDO:Lexical, OMIM:616395]
xref: OMIM:616395 {source="MONDO:equivalentTo"}
xref: UMLS:C4017171 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002470 {source="DC-OMIM:616395", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
property_value: exactMatch http://identifiers.org/omim/616395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4017171

[Term]
id: MONDO:0014620
name: myoclonic dystonia 26
def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398]
synonym: "dystonia 26, myoclonic; DYT26" RELATED [OMIM:616398]
synonym: "DYT26" RELATED [MONDO:Lexical, OMIM:616398]
synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2]
synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern]
xref: DOID:0090036 {source="MONDO:equivalentTo"}
xref: OMIM:616398 {source="DOID:0090036", source="MONDO:equivalentTo"}
xref: UMLS:C4225341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000903 {source="DOID:0090036", source="MONDO:Redundant"} ! myoclonus-dystonia syndrome
property_value: exactMatch DOID:0090036
property_value: exactMatch http://identifiers.org/omim/616398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225341

[Term]
id: MONDO:0014621
name: Brugada syndrome 9
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BRGDA9" EXACT [DOID:0110226, MONDO:Lexical, OMIM:616399]
synonym: "Brugada syndrome 9" EXACT [MONDO:Lexical, OMIM:616399]
synonym: "Brugada syndrome 9; BRGDA9" RELATED [OMIM:616399]
synonym: "Brugada syndrome caused by mutation in KCND3" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 9" EXACT [DOID:0110226, MONDORULE:1, OMIM:616399]
synonym: "KCND3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110226 {source="MONDO:equivalentTo"}
xref: ICD10:I49.8 {source="DOID:0110226"}
xref: OMIM:616399 {source="DOID:0110226", source="MONDO:equivalentTo"}
xref: UMLS:C4225340 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015263 {source="DOID:0110226", source="MONDO:Redundant", source="OMIM:616399"} ! Brugada syndrome
property_value: exactMatch DOID:0110226
property_value: exactMatch http://identifiers.org/omim/616399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225340

[Term]
id: MONDO:0014622
name: isolated focal non-epidermolytic palmoplantar keratoderma
subset: ordo_disease {source="Orphanet:448264"}
synonym: "FNEPPK2" RELATED [MONDO:Lexical, OMIM:616400]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical, OMIM:616400]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2; FNEPPK2" RELATED [OMIM:616400]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1, OMIM:616400]
xref: OMIM:616400 {source="MONDO:equivalentTo", source="ORDO:448264/e", source="Orphanet:448264"}
xref: Orphanet:448264 {source="MONDO:equivalentTo"}
xref: UMLS:C4225339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006588 {source="DC-OMIM:616400"} ! nonepidermolytic palmoplantar keratoderma
is_a: MONDO:0017673 {source="Orphanet:448264"} ! isolated focal palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/omim/616400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225339
property_value: exactMatch Orphanet:448264

[Term]
id: MONDO:0014623
name: microcephaly 14, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in SASS6" EXACT [MONDO:design_pattern]
synonym: "MCPH14" RELATED [MONDO:Lexical, OMIM:616402]
synonym: "microcephaly 14, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616402]
synonym: "microcephaly 14, primary, autosomal recessive; MCPH14" RELATED [OMIM:616402]
synonym: "SASS6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070279 {source="MONDO:equivalentTo"}
xref: OMIM:616402 {source="MONDO:equivalentTo"}
xref: UMLS:C4225338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:616402", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070279
property_value: exactMatch http://identifiers.org/omim/616402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225338

[Term]
id: MONDO:0014624
name: Brown syndrome
def: "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." [https://rarediseases.org/rare-diseases/brown-syndrome/]
synonym: "Brown syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/, MONDO:Lexical, OMIM:616407]
synonym: "Brown syndrome; BRWNS" EXACT [OMIM:616407]
synonym: "Brown tendon sheath syndrome" EXACT [DOID:10235]
synonym: "Brown's (tendon) sheath syndrome" EXACT [DOID:10235, ICD9CM_2006:378.61]
synonym: "Brown's sheath syndrome" EXACT [DOID:10235, MTHICD9_2006:378.61]
synonym: "Brown's tendon sheath syndrome" EXACT [MONDO:0000982]
synonym: "BRWNS" EXACT [MONDO:Lexical, OMIM:616407]
synonym: "superior oblique tendon sheath syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/]
synonym: "tendon sheath adherence, Superior oblique" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/]
xref: COHD:76122 {source="MONDO:equivalentTo"}
xref: DOID:10235 {source="MONDO:equivalentTo"}
xref: GARD:0005963 {source="MONDO:equivalentTo"}
xref: ICD10:H50.61 {source="DOID:10235"}
xref: ICD9:378.61 {source="DOID:10235", source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:616407 {source="MONDO:equivalentTo"}
xref: SCTID:35929003 {source="DOID:10235", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0155339 {source="DOID:10235", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000462 ! eye adnexa disease
is_a: MONDO:0004753 {source="DOID:10235"} ! mechanical strabismus
is_a: MONDO:0020120 ! skeletal muscle disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024458 ! disease of visual system
is_a: MONDO:0100010 ! tendinopathy
property_value: closeMatch http://identifiers.org/mesh/D015835
property_value: exactMatch DOID:10235
property_value: exactMatch http://identifiers.org/omim/616407
property_value: exactMatch http://identifiers.org/snomedct/35929003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155339

[Term]
id: MONDO:0014625
name: epileptic encephalopathy, early infantile, 33
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern]
synonym: "EEF1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIEE33" RELATED [MONDO:Lexical, OMIM:616409]
synonym: "epileptic encephalopathy, early infantile, 33" EXACT [MONDO:Lexical, OMIM:616409]
synonym: "epileptic encephalopathy, early infantile, 33; EIEE33" RELATED [OMIM:616409]
synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2, OMIM:616409]
xref: OMIM:616409 {source="MONDO:equivalentTo"}
xref: UMLS:C4225337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225337

[Term]
id: MONDO:0014626
name: spinocerebellar ataxia type 41
def: "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." [Orphanet:458798]
subset: ordo_disease {source="Orphanet:458798"}
synonym: "SCA41" EXACT [MONDO:Lexical, OMIM:616410, Orphanet:458798]
synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical, OMIM:616410]
synonym: "spinocerebellar ataxia 41; SCA41" RELATED [OMIM:616410]
synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, OMIM:616410]
xref: EFO:0009058 {source="MONDO:equivalentTo"}
xref: ICD10:G11.2 {source="Orphanet:458798", source="ORDO:458798/attributed", source="ORDO:458798/ntbt"}
xref: OMIM:616410 {source="Orphanet:458798", source="ORDO:458798/e", source="MONDO:equivalentTo"}
xref: Orphanet:458798 {source="MONDO:equivalentTo"}
xref: UMLS:C4225158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="EFO:0009058", source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch http://identifiers.org/omim/616410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225158
property_value: exactMatch Orphanet:458798

[Term]
id: MONDO:0014627
name: dystonia 27
def: "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:464440"}
synonym: "COL6A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 27" EXACT [MONDO:Lexical, OMIM:616411]
synonym: "dystonia 27; DYT27" RELATED [OMIM:616411]
synonym: "dystonia type 27" EXACT [DOID:0090050, MONDORULE:2, OMIM:616411]
synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pattern]
synonym: "DYT27" RELATED [MONDO:Lexical, OMIM:616411]
synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440]
xref: DOID:0090050 {source="MONDO:equivalentTo"}
xref: ICD10:G24.1 {source="Orphanet:464440", source="ORDO:464440/attributed", source="ORDO:464440/ntbt", source="DOID:0090050"}
xref: OMIM:616411 {source="Orphanet:464440", source="MONDO:equivalentTo", source="DOID:0090050", source="ORDO:464440/e"}
xref: Orphanet:464440 {source="MONDO:equivalentTo", source="DOID:0090050"}
xref: UMLS:C4225336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000479 {source="DOID:0090050"} ! segmental dystonia
is_a: MONDO:0015990 {source="Orphanet:464440"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0090050
property_value: exactMatch http://identifiers.org/omim/616411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225336
property_value: exactMatch Orphanet:464440

[Term]
id: MONDO:0014628
name: basal ganglia calcification, idiopathic, 6
def: "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413]
synonym: "basal ganglia calcification, idiopathic, 6; IBGC6" RELATED [OMIM:616413]
synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413]
synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern]
synonym: "IBGC6" RELATED [MONDO:Lexical, OMIM:616413]
synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616413 {source="MONDO:equivalentTo"}
xref: UMLS:C4225335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/omim/616413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225335

[Term]
id: MONDO:0014629
name: autoimmune interstitial lung disease-arthritis syndrome
comment: Editor note: check relationship to RA-ILD
subset: ordo_disease {source="Orphanet:444092"}
synonym: "AILJK" RELATED [MONDO:Lexical, OMIM:616414]
synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414]
synonym: "autoimmune interstitial lung, joint, and kidney disease; AILJK" RELATED [OMIM:616414]
synonym: "copa defect" EXACT [Orphanet:444092]
synonym: "copa syndrome" EXACT [Orphanet:444092]
xref: ICD10:J84.8 {source="ORDO:444092/attributed", source="ORDO:444092/ntbt", source="Orphanet:444092"}
xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="ORDO:444092/e"}
xref: Orphanet:444092 {source="MONDO:equivalentTo"}
xref: UMLS:C4225334 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015939 {source="Orphanet:444092"} ! systemic autoimmune disease
is_a: MONDO:0017020 {source="Orphanet:444092"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
is_a: MONDO:0017133 {source="MONDO:Entailed", source="Orphanet:444092"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019724 {source="Orphanet:444092"} ! secondary glomerular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0231330
property_value: exactMatch http://identifiers.org/omim/616414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225334
property_value: exactMatch Orphanet:444092

[Term]
id: MONDO:0014630
name: NTHL1-related attenuated familial adenomatous polyposis
subset: ordo_clinical_subtype {source="Orphanet:454840"}
synonym: "familial adenomatous polyposis 3" RELATED [MONDO:Lexical, OMIM:616415]
synonym: "familial adenomatous polyposis 3; FAP3" RELATED [OMIM:616415]
synonym: "familial adenomatous polyposis type 3" EXACT [MONDORULE:1, OMIM:616415]
synonym: "FAP3" RELATED [MONDO:Lexical, OMIM:616415]
synonym: "NTHL1-related AFAP" EXACT [Orphanet:454840]
synonym: "NTHL1-related attenuated FAP" EXACT [Orphanet:454840]
xref: ICD10:D12.6 {source="Orphanet:454840", source="ORDO:454840/attributed", source="ORDO:454840/ntbt"}
xref: OMIM:616415 {source="Orphanet:454840", source="ORDO:454840/e", source="MONDO:equivalentTo"}
xref: Orphanet:454840 {source="MONDO:equivalentTo"}
xref: UMLS:C4225157 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="Orphanet:454840"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:616415"} ! classic familial adenomatous polyposis
property_value: exactMatch http://identifiers.org/omim/616415
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225157
property_value: exactMatch Orphanet:454840

[Term]
id: MONDO:0014631
name: hypomagnesemia, seizures, and intellectual disability
synonym: "HOMGSMR" RELATED [MONDO:Lexical, OMIM:616418]
synonym: "hypomagnesemia, seizures, and mental retardation" EXACT [MONDO:Lexical, OMIM:616418]
synonym: "hypomagnesemia, seizures, and mental retardation; HOMGSMR" RELATED [OMIM:616418]
xref: OMIMPS:616418 {source="MONDO:equivalentTo"}
xref: UMLS:C4225333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225333

[Term]
id: MONDO:0014632
name: hypomyelinating leukodystrophy 10
def: "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLD10" EXACT [DOID:0060788, MONDO:Lexical, OMIM:616420]
synonym: "hypomyelinating leukodystrophy type 10" EXACT [DOID:0060788, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in PYCR2" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical, OMIM:616420]
synonym: "leukodystrophy, hypomyelinating, 10; HLD10" RELATED [OMIM:616420]
synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2, OMIM:616420]
synonym: "PYCR2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060788 {source="MONDO:equivalentTo"}
xref: OMIM:616420 {source="MONDO:equivalentTo", source="DOID:0060788"}
xref: UMLS:C4225332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="DOID:0060788", source="DOID:0060788/inferred", source="MONDO:Redundant", source="OMIM:616420"} ! leukodystrophy
property_value: exactMatch DOID:0060788
property_value: exactMatch http://identifiers.org/omim/616420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225332

[Term]
id: MONDO:0014633
name: myoclonic-atonic epilepsy
synonym: "mae" RELATED [MONDO:Lexical, OMIM:616421]
synonym: "myoclonic-atonic epilepsy" EXACT [MONDO:Lexical, OMIM:616421]
synonym: "myoclonic-atonic epilepsy; mae" RELATED [OMIM:616421]
xref: OMIM:616421 {source="MONDO:equivalentTo"}
xref: UMLS:C4085238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016025 {source="MONDOLEX:0014633", source="ORDO:1942/btnt"} ! myoclonic-astastic epilepsy
property_value: exactMatch http://identifiers.org/omim/616421
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085238

[Term]
id: MONDO:0014634
name: 46,XY sex reversal 10
synonym: "46,XY sex reversal 10" EXACT [MONDO:Lexical, OMIM:616425]
synonym: "46,XY SEX reversal 10; SRXY10" RELATED [OMIM:616425]
synonym: "46,XY Sex reversal type 10" EXACT [MONDORULE:2, OMIM:616425]
synonym: "chromosome 17Q24 deletion syndrome" RELATED [OMIM:616425]
synonym: "SRXY10" RELATED [MONDO:Lexical, OMIM:616425]
xref: OMIM:616425 {source="MONDO:equivalentTo"}
xref: UMLS:C4225331 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010765 {source="MONDOLEX:0014634", source="OMIM:616425", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/616425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225331

[Term]
id: MONDO:0014635
name: microphthalmia, isolated, with coloboma 10
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB10" RELATED [MONDO:Lexical, OMIM:616428]
synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical, OMIM:616428]
synonym: "microphthalmia, isolated, with coloboma 10; MCOPCB10" RELATED [OMIM:616428]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in RBP4" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2, OMIM:616428]
synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616428 {source="MONDO:equivalentTo"}
xref: UMLS:C4225330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010303 {source="MONDOLEX:0014635", source="ORDO:98938/btnt"} ! colobomatous microphthalmia
property_value: exactMatch http://identifiers.org/omim/616428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225330

[Term]
id: MONDO:0014636
name: combined oxidative phosphorylation defect type 25
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:447954"}
synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical, OMIM:616430]
synonym: "combined oxidative phosphorylation deficiency 25; COXPD25" RELATED [OMIM:616430]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 25" EXACT [MONDORULE:2, OMIM:616430]
synonym: "COXPD25" EXACT [MONDO:Lexical, OMIM:616430, Orphanet:447954]
synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009035 {source="MONDO:equivalentTo"}
xref: ICD10:E88.8 {source="Orphanet:447954", source="ORDO:447954/attributed", source="ORDO:447954/ntbt"}
xref: OMIM:616430 {source="Orphanet:447954", source="ORDO:447954/e", source="MONDO:equivalentTo"}
xref: Orphanet:447954 {source="MONDO:equivalentTo"}
xref: UMLS:C4225329 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616430", source="MONDO:Redundant", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="EFO:0009035", source="Orphanet:447954"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:447954"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:447954"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/616430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225329
property_value: exactMatch Orphanet:447954

[Term]
id: MONDO:0014637
name: DOCK2 deficiency
subset: gard_rare {source="GARD:0012653"}
subset: ordo_disease {source="Orphanet:447737"}
synonym: "IMD40" RELATED [MONDO:Lexical, OMIM:616433]
synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433]
synonym: "immunodeficiency 40; IMD40" RELATED [OMIM:616433]
synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433]
xref: GARD:0012653 {source="MONDO:equivalentTo"}
xref: ICD10:D81.8 {source="ORDO:447737/attributed", source="ORDO:447737/ntbt", source="Orphanet:447737"}
xref: OMIM:616433 {source="ORDO:447737/e", source="MONDO:equivalentTo", source="Orphanet:447737"}
xref: Orphanet:447737 {source="MONDO:equivalentTo"}
xref: UMLS:C4225328 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:447737"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/616433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225328
property_value: exactMatch Orphanet:447737
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency xsd:anyURI {source="GARD:0012653"}

[Term]
id: MONDO:0014638
name: Fanconi anemia complementation group T
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type T" EXACT [DOID:0111081, MONDORULE:1]
synonym: "Fanconi anemia, complementation group T" RELATED [MONDO:Lexical, OMIM:616435]
synonym: "Fanconi anemia, complementation group T; FANCT" RELATED [OMIM:616435]
synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1, OMIM:616435]
synonym: "FANCT" EXACT [DOID:0111081, MONDO:Lexical, OMIM:616435]
synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111081 {source="MONDO:equivalentTo"}
xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"}
xref: UMLS:C4084840 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:616435", source="DOID:0111081", source="MONDO:Redundant", source="OMIM:616435"} ! Fanconi anemia
property_value: exactMatch DOID:0111081
property_value: exactMatch http://identifiers.org/omim/616435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084840

[Term]
id: MONDO:0014639
name: familial temporal lobe epilepsy 7
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22." [DOID:0060751, PMID:26046367]
synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical, OMIM:616436]
synonym: "epilepsy, familial temporal lobe, 7; ETL7" RELATED [OMIM:616436]
synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1, OMIM:616436]
synonym: "ETL7" EXACT [DOID:0060751, MONDO:Lexical, OMIM:616436]
synonym: "familial temporal lobe epilepsy type 7" EXACT [DOID:0060751, MONDORULE:1]
xref: DOID:0060751 {source="MONDO:equivalentTo"}
xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"}
xref: UMLS:C4225327 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010898 {source="ORDO:101046/btnt"} ! Autosomal dominant epilepsy with auditory features
property_value: exactMatch DOID:0060751
property_value: exactMatch http://identifiers.org/omim/616436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225327

[Term]
id: MONDO:0014640
name: FTDALS3
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." [DOID:0110068, PMID:22084127]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" EXACT [DOID:0110068, MONDO:Lexical, OMIM:616437]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 3; FTDALS3" RELATED [OMIM:616437]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3" EXACT [MONDORULE:1, OMIM:616437]
synonym: "FTDALS3" EXACT [MONDO:Lexical, OMIM:616437]
xref: DOID:0110068 {source="MONDO:equivalentTo"}
xref: OMIM:616437 {source="MONDO:equivalentTo", source="DOID:0110068"}
xref: UMLS:C4225326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 {source="MONDO:cjm"} ! FTDALS
is_a: MONDO:0017160 {source="ORDO:275864/btnt"} ! behavioral variant of frontotemporal dementia
property_value: exactMatch DOID:0110068
property_value: exactMatch http://identifiers.org/omim/616437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225326

[Term]
id: MONDO:0014641
name: FTDALS4
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." [DOID:0110069, PMID:25700176]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" EXACT [DOID:0110069, MONDO:Lexical, OMIM:616439]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4; FTDALS4" RELATED [OMIM:616439]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1, OMIM:616439]
synonym: "FTDALS4" EXACT [MONDO:Lexical, OMIM:616439]
xref: DOID:0110069 {source="MONDO:equivalentTo"}
xref: OMIM:616439 {source="MONDO:equivalentTo", source="DOID:0110069"}
xref: UMLS:C4225325 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000712 {source="MONDO:cjm"} ! FTDALS
property_value: exactMatch DOID:0110069
property_value: exactMatch http://identifiers.org/omim/616439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225325

[Term]
id: MONDO:0014642
name: candidiasis, familial, 9
def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CANDF9" RELATED [MONDO:Lexical, OMIM:616445]
synonym: "candidiasis, familial, 9" EXACT [MONDO:Lexical, OMIM:616445]
synonym: "candidiasis, familial, 9; CANDF9" RELATED [OMIM:616445]
synonym: "candidiasis, familial, type 9" EXACT [MONDORULE:1, OMIM:616445]
synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC" EXACT []
synonym: "IL17RC chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:616445 {source="MONDO:equivalentTo"}
xref: UMLS:C4225324 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015279 {source="MONDOLEX:0014642", source="OMIM:616445"} ! chronic mucocutaneous candidiasis (disease)
property_value: exactMatch http://identifiers.org/omim/616445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225324

[Term]
id: MONDO:0014643
name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:464738"}
synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449]
synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome; BVSYS" RELATED [OMIM:616449]
synonym: "BVSYS" RELATED [MONDO:Lexical, OMIM:616449]
xref: OMIM:616449 {source="MONDO:equivalentTo", source="ORDO:464738/e", source="Orphanet:464738"}
xref: Orphanet:464738 {source="MONDO:equivalentTo"}
xref: UMLS:C4225323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464738", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:464738"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020225 {source="Orphanet:464738"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/omim/616449
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225323
property_value: exactMatch Orphanet:464738

[Term]
id: MONDO:0014644
name: hereditary spastic paraplegia 74
def: "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." [Orphanet:468661]
subset: ordo_disease {source="Orphanet:468661"}
synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819]
synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661]
synonym: "hereditary spastic paraplegia caused by mutation in IBA57" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 74" EXACT [DOID:0110819, MONDORULE:2]
synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451]
synonym: "spastic paraplegia 74, autosomal recessive; SPG74" RELATED [OMIM:616451]
synonym: "SPG74" EXACT [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661]
xref: DOID:0110819 {source="MONDO:equivalentTo"}
xref: OMIM:616451 {source="MONDO:equivalentTo", source="DOID:0110819", source="Orphanet:468661"}
xref: Orphanet:468661 {source="MONDO:equivalentTo", source="DOID:0110819"}
xref: UMLS:C4225322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018550 {source="Orphanet:468661"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
property_value: exactMatch DOID:0110819
property_value: exactMatch http://identifiers.org/omim/616451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225322
property_value: exactMatch Orphanet:468661

[Term]
id: MONDO:0014645
name: BENTA disease
def: "BENTA disease ( B cell E xpansion with N F-N:B and T cell A nergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.." [GARD:0013339]
subset: gard_rare
subset: ordo_disease {source="Orphanet:464336"}
synonym: "B-cell expansion with NF-kB and T-cell anergy disease" EXACT [GARD:0013339, Orphanet:464336]
synonym: "B-cell expansion with NFKB and T-cell anergy" RELATED [GARD:0013339, MONDO:Lexical, OMIM:616452]
synonym: "B-cell expansion with NFKB and T-cell anergy; BENTA" RELATED [OMIM:616452]
synonym: "BENTA" RELATED [MONDO:Lexical, OMIM:616452]
xref: GARD:0013339 {source="MONDO:equivalentTo"}
xref: OMIM:616452 {source="ORDO:464336/e", source="MONDO:equivalentTo", source="Orphanet:464336"}
xref: Orphanet:464336 {source="MONDO:equivalentTo"}
xref: UMLS:CN231446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN242071 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018814 {source="Orphanet:464336"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/616452
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242071
property_value: exactMatch Orphanet:464336

[Term]
id: MONDO:0014646
name: Zimmermann-Laband syndrome 2
def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATP6V1B2 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Zimmermann-Laband syndrome 2" EXACT [MONDO:Lexical, OMIM:616455]
synonym: "Zimmermann-Laband syndrome 2; ZLS2" RELATED [OMIM:616455]
synonym: "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2" EXACT [MONDO:design_pattern]
synonym: "Zimmermann-Laband syndrome type 2" EXACT [MONDORULE:1, OMIM:616455]
synonym: "ZLS2" RELATED [MONDO:Lexical, OMIM:616455]
xref: OMIM:616455 {source="MONDO:equivalentTo"}
xref: UMLS:C4225321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:616455", source="ORDO:3473/btnt"} ! Zimmermann-Laband syndrome
property_value: exactMatch http://identifiers.org/omim/616455
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225321

[Term]
id: MONDO:0014647
name: CAD-CDG
subset: ordo_disease {source="Orphanet:448010"}
synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [Orphanet:448010]
synonym: "CDG syndrome type Iz" EXACT [Orphanet:448010]
synonym: "CDG-Iz" EXACT [Orphanet:448010]
synonym: "CDG1Z" EXACT [MONDO:Lexical, OMIM:616457, Orphanet:448010]
synonym: "congenital disorder of glycosylation type 1z" EXACT [Orphanet:448010]
synonym: "congenital disorder of glycosylation, type Iz" RELATED [MONDO:Lexical, OMIM:616457]
synonym: "congenital disorder of glycosylation, type Iz, formerly" RELATED [OMIM:616457]
synonym: "congenital disorder of glycosylation, type Iz; CDG1Z" RELATED [OMIM:616457]
synonym: "EIEE50" RELATED [OMIM:616457]
synonym: "epileptic encephalopathy, early infantile, 50" RELATED [OMIM:616457]
synonym: "epileptic encephalopathy, early infantile, 50; EIEE50" RELATED [OMIM:616457]
xref: ICD10:E77.8 {source="ORDO:448010/attributed", source="ORDO:448010/ntbt", source="Orphanet:448010"}
xref: OMIM:616457 {source="MONDO:equivalentTo", source="Orphanet:448010", source="ORDO:448010/e"}
xref: Orphanet:448010 {source="MONDO:equivalentTo"}
xref: UMLS:C4225320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosylation type I
is_a: MONDO:0016021 {source="OMIM:616457"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0017749 {source="Orphanet:448010"} ! disorder of multiple glycosylation
is_a: MONDO:0019238 {source="Orphanet:448010"} ! inborn disorder of pyrimidine metabolism
property_value: exactMatch http://identifiers.org/omim/616457
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225320
property_value: exactMatch Orphanet:448010

[Term]
id: MONDO:0014648
name: Al-Raqad syndrome
synonym: "Al-Raqad syndrome" EXACT [MONDO:Lexical, OMIM:616459]
synonym: "AL-RAQAD syndrome; ARS" RELATED [OMIM:616459]
synonym: "ARS" RELATED [MONDO:Lexical, OMIM:616459]
xref: OMIM:616459 {source="MONDO:equivalentTo"}
xref: UMLS:C4085595 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085595

[Term]
id: MONDO:0014649
name: intellectual disability, autosomal recessive 50
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3" EXACT [MONDO:design_pattern]
synonym: "EDC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 50" RELATED [MONDO:Lexical, OMIM:616460]
synonym: "mental retardation, autosomal recessive 50; MRT50" RELATED [OMIM:616460]
synonym: "mental retardation, autosomal recessive type 50" EXACT [MONDORULE:2, OMIM:616460]
synonym: "MRT50" RELATED [MONDO:Lexical, OMIM:616460]
xref: OMIM:616460 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:616460", source="MONDO:Redundant", source="OMIM:616460"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225319
property_value: exactMatch http://identifiers.org/omim/616460

[Term]
id: MONDO:0014650
name: familial temporal lobe epilepsy 8
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13." [DOID:0060754, PMID:25691535]
synonym: "epilepsy, familial temporal lobe, 8" RELATED [MONDO:Lexical, OMIM:616461]
synonym: "epilepsy, familial temporal lobe, 8; ETL8" RELATED [OMIM:616461]
synonym: "epilepsy, familial temporal lobe, type 8" EXACT [MONDORULE:1, OMIM:616461]
synonym: "ETL8" EXACT [DOID:0060754, MONDO:Lexical, OMIM:616461]
synonym: "familial temporal lobe epilepsy type 8" EXACT [DOID:0060754, MONDORULE:1]
xref: DOID:0060754 {source="MONDO:equivalentTo"}
xref: OMIM:616461 {source="DOID:0060754", source="MONDO:equivalentTo"}
xref: UMLS:C4225318 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010898 {source="ORDO:101046/btnt"} ! Autosomal dominant epilepsy with auditory features
property_value: exactMatch DOID:0060754
property_value: exactMatch http://identifiers.org/omim/616461
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225318

[Term]
id: MONDO:0014651
name: acrofacial dysostosis Cincinnati type
def: "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acrofacial dysostosis caused by mutation in POLR1A" EXACT [MONDO:design_pattern]
synonym: "acrofacial dysostosis, Cincinnati type" RELATED [MONDO:Lexical, OMIM:616462]
synonym: "acrofacial dysostosis, Cincinnati type; AFDCIN" RELATED [OMIM:616462]
synonym: "AFDCIN" RELATED [MONDO:Lexical, OMIM:616462]
synonym: "POLR1A acrofacial dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060353 {source="MONDO:equivalentTo"}
xref: OMIM:616462 {source="DOID:0060353", source="MONDO:equivalentTo"}
xref: UMLS:C4225317 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018237 {source="DC-OMIM:616462", source="DOID:0060353", source="MONDO:Entailed", source="MONDO:Redundant"} ! acrofacial dysostosis
property_value: exactMatch DOID:0060353
property_value: exactMatch http://identifiers.org/omim/616462
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225317

[Term]
id: MONDO:0014652
name: exudative vitreoretinopathy 6
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "EVR6" RELATED [MONDO:Lexical, OMIM:616468]
synonym: "exudative vitreoretinopathy 6" EXACT [MONDO:Lexical, OMIM:616468]
synonym: "exudative vitreoretinopathy 6; EVR6" RELATED [OMIM:616468]
synonym: "exudative vitreoretinopathy caused by mutation in ZNF408" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy type 6" EXACT [MONDORULE:1, OMIM:616468]
synonym: "ZNF408 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616468 {source="MONDO:equivalentTo"}
xref: UMLS:C4225316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019516 {source="DC-OMIM:616468", source="MONDO:Redundant", source="OMIM:616468"} ! exudative vitreoretinopathy
property_value: exactMatch http://identifiers.org/omim/616468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225316

[Term]
id: MONDO:0014653
name: retinitis pigmentosa 72
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 72" EXACT [MONDO:Lexical, OMIM:616469]
synonym: "retinitis pigmentosa 72; RP72" RELATED [OMIM:616469]
synonym: "retinitis pigmentosa caused by mutation in ZNF408" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 72" EXACT [DOID:0110395, MONDORULE:2, OMIM:616469]
synonym: "RP72" EXACT [DOID:0110395, MONDO:Lexical, OMIM:616469]
synonym: "ZNF408 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110395 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110395"}
xref: OMIM:616469 {source="MONDO:equivalentTo", source="DOID:0110395"}
xref: UMLS:C4225315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:616469", source="DOID:0110395", source="MONDO:Redundant", source="OMIM:616469"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110395
property_value: exactMatch http://identifiers.org/omim/616469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225315

[Term]
id: MONDO:0014654
name: Ullrich congenital muscular dystrophy 2
def: "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "COL12A1 Ullrich congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UCMD2" RELATED [MONDO:Lexical, OMIM:616470]
synonym: "Ullrich congenital muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:616470]
synonym: "Ullrich congenital muscular dystrophy 2; UCMD2" RELATED [OMIM:616470]
synonym: "Ullrich congenital muscular dystrophy caused by mutation in COL12A1" EXACT [MONDO:design_pattern]
synonym: "Ullrich congenital muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:616470]
xref: OMIM:616470 {source="MONDO:equivalentTo"}
xref: UMLS:C4225314 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000355 {source="MONDO:0014654/inferred", source="MONDO:Redundant", source="MONDOLEX:0014654/inferred", source="OMIM:616470"} ! Ullrich congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/616470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225314

[Term]
id: MONDO:0014655
name: Bethlem myopathy 2
def: "Any Bethlem myopathy in which the cause of the disease is a mutation in the COL12A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471]
synonym: "Bethlem myopathy 2; BTHLM2" RELATED [OMIM:616471]
synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern]
synonym: "Bethlem myopathy type 2" EXACT [MONDORULE:1, OMIM:616471]
synonym: "BTHLM2" RELATED [MONDO:Lexical, OMIM:616471]
synonym: "COL12A1 Bethlem myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EDS, myopathic type" RELATED [OMIM:616471]
synonym: "Ehlers-Danlos syndrome, myopathic type" RELATED [OMIM:616471]
xref: OMIM:616471 {source="MONDO:equivalentTo"}
xref: UMLS:C4225313 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008029 {source="MONDO:Redundant", source="MONDOLEX:0014655", source="OMIM:616471", source="ORDO:610/btnt"} ! Bethlem myopathy
property_value: exactMatch http://identifiers.org/omim/616471
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225313

[Term]
id: MONDO:0014656
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PEOB2" RELATED [MONDO:Lexical, OMIM:616479]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:616479]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; PEOB2" RELATED [OMIM:616479]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:616479]
synonym: "progressive external ophthalmoplegia, autosomal recessive 2" RELATED [OMIM:616479]
synonym: "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616479 {source="MONDO:equivalentTo"}
xref: UMLS:C4225312 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="DC-OMIM:616479", source="MONDO:Redundant", source="MONDOLEX:0014656", source="OMIM:616479"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0018002 {source="ORDO:329336/btnt"} ! adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
property_value: exactMatch http://identifiers.org/omim/616479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225312

[Term]
id: MONDO:0014657
name: primary ciliary dyskinesia 32
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD32" EXACT [DOID:0110603, MONDO:Lexical, OMIM:616481]
synonym: "ciliary dyskinesia, primary, 32" RELATED [MONDO:Lexical, OMIM:616481]
synonym: "ciliary dyskinesia, primary, 32, without situs inversus" RELATED [OMIM:616481]
synonym: "ciliary dyskinesia, primary, 32; CILD32" RELATED [OMIM:616481]
synonym: "ciliary dyskinesia, primary, type 32" EXACT [MONDORULE:2, OMIM:616481]
synonym: "primary ciliary dyskinesia 32 without situs inversus" EXACT [DOID:0110603]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH3" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 32" EXACT [DOID:0110603, MONDORULE:2]
synonym: "RSPH3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110603 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110603"}
xref: OMIM:616481 {source="DOID:0110603", source="MONDO:equivalentTo"}
xref: UMLS:C4225311 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:616481", source="DOID:0110603", source="MONDO:Redundant", source="MONDOLEX:0014657", source="OMIM:616481"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110603
property_value: exactMatch http://identifiers.org/omim/616481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225311

[Term]
id: MONDO:0014658
name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome
def: "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." [Orphanet:85165]
subset: ordo_disease {source="Orphanet:85165"}
synonym: "achondroplasia, severe, with developmental delay and acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:616482]
synonym: "achondroplasia, severe, with developmental delay and acanthosis nigricans; SADDAN" RELATED [OMIM:616482]
synonym: "SADDAN" EXACT [MONDO:Lexical, OMIM:616482, Orphanet:85165]
synonym: "SADDAN dysplasia" EXACT [DOID:0111158, OMIM:616482]
synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [DOID:0111158]
xref: DOID:0111158 {source="MONDO:equivalentTo"}
xref: GARD:0009443 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.4 {source="MONDO:directSiblingOf", source="ORDO:85165/attributed", source="ORDO:85165/ntbt", source="Orphanet:85165"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:783.40 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:616482 {source="MONDO:equivalentTo", source="ORDO:85165/e", source="Orphanet:85165", source="DOID:0111158"}
xref: Orphanet:85165 {source="MONDO:equivalentTo", source="OMIM:616482", source="DOID:0111158"}
xref: PMID:10053006 {source="DOID:0111158"}
xref: SCTID:699870002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59", source="DOID:0111158"}
xref: url:https\://ghr.nlm.nih.gov/condition/saddan {source="DOID:0111158"}
is_a: MONDO:0000426 {source="DOID:0111158", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0018232 {source="Orphanet:85165"} ! primary bone dysplasia with micromelia
is_a: MONDO:0019274 {source="Orphanet:85165"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:85165"} ! other genetic epidermal disease
is_a: MONDO:0019685 {source="Orphanet:85165"} ! FGFR3-related chondrodysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0111158
property_value: exactMatch http://identifiers.org/omim/616482
property_value: exactMatch http://identifiers.org/snomedct/699870002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674173
property_value: exactMatch Orphanet:85165

[Term]
id: MONDO:0014659
name: fever-associated acute infantile liver failure syndrome
def: "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:464724"}
synonym: "ILFS2" RELATED [MONDO:Lexical, OMIM:616483]
synonym: "infantile liver failure caused by mutation in NBAS" EXACT [MONDO:design_pattern]
synonym: "infantile liver failure syndrome 2" RELATED [MONDO:Lexical, OMIM:616483]
synonym: "infantile liver failure syndrome 2; ILFS2" RELATED [OMIM:616483]
synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1, OMIM:616483]
synonym: "NBAS infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0013113 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:616483 {source="MONDO:equivalentTo", source="Orphanet:464724", source="ORDO:464724/e"}
xref: Orphanet:464724 {source="MONDO:equivalentTo"}
xref: UMLS:CN232144 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000023 {source="DC-OMIM:616483", source="MONDO:Redundant", source="OMIM:616483"} ! infantile liver failure
property_value: exactMatch http://identifiers.org/omim/616483
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN232144
property_value: exactMatch Orphanet:464724

[Term]
id: MONDO:0014660
name: microcephaly 15, primary, autosomal recessive
synonym: "MCPH15" RELATED [MONDO:Lexical, OMIM:616486]
synonym: "microcephaly 15, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616486]
synonym: "microcephaly 15, primary, autosomal recessive; MCPH15" RELATED [OMIM:616486]
xref: DOID:0070277 {source="MONDO:equivalentTo"}
xref: OMIM:616486 {source="MONDO:equivalentTo"}
xref: UMLS:C4225310 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:616486", source="OMIM:616486"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070277
property_value: exactMatch http://identifiers.org/omim/616486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225310

[Term]
id: MONDO:0014661
name: epidermolysis bullosa simplex with nail dystrophy
synonym: "EBSND" RELATED [MONDO:Lexical, OMIM:616487]
synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT [MONDO:Lexical, OMIM:616487]
synonym: "epidermolysis bullosa simplex with nail dystrophy; EBSND" RELATED [OMIM:616487]
xref: OMIM:616487 {source="MONDO:equivalentTo"}
xref: UMLS:C4225309 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225309

[Term]
id: MONDO:0014662
name: congenital insensitivity to pain-hypohidrosis syndrome
def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34." [DOID:0070153]
subset: ordo_disease {source="Orphanet:478664"}
synonym: "CIP-hypohidrosis syndrome" EXACT [Orphanet:478664]
synonym: "hereditary sensory and autonomic neuropathy type 8" EXACT [Orphanet:478664]
synonym: "hereditary sensory and autonomic neuropathy type VIII" EXACT [DOID:0070153, Orphanet:478664]
synonym: "HSAN 8" RELATED [OMIM:616488]
synonym: "HSAN8" EXACT [DOID:0070153, MONDO:Lexical, OMIM:616488, Orphanet:478664]
synonym: "neuropathy, hereditary sensory and autonomic, type 8" RELATED [OMIM:616488]
synonym: "neuropathy, hereditary sensory and autonomic, type VIII" RELATED [MONDO:Lexical, OMIM:616488]
synonym: "neuropathy, hereditary sensory and autonomic, type VIII; HSAN8" RELATED [OMIM:616488]
xref: DOID:0070153 {source="MONDO:equivalentTo"}
xref: OMIM:616488 {source="DOID:0070153", source="Orphanet:478664", source="MONDO:equivalentTo"}
xref: Orphanet:478664 {source="DOID:0070153", source="MONDO:equivalentTo"}
xref: UMLS:C4225308 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015366 {source="Orphanet:478664"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch DOID:0070153
property_value: exactMatch http://identifiers.org/omim/616488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225308
property_value: exactMatch Orphanet:478664

[Term]
id: MONDO:0014663
name: Silver-Russell syndrome 3
synonym: "GRDF" RELATED [MONDO:Lexical, OMIM:616489]
synonym: "growth restriction, severe, with distinctive facies" EXACT [OMIM:616489]
synonym: "growth restriction, severe, with distinctive facies" EXACT [MONDO:Lexical, OMIM:616489]
synonym: "growth restriction, severe, with distinctive facies; GRDF" RELATED [OMIM:616489]
synonym: "SRS3" EXACT [OMIM:616489]
xref: OMIM:616489 {source="MONDO:equivalentTo"}
xref: UMLS:C4225307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 ! Silver-Russell syndrome
property_value: exactMatch http://identifiers.org/omim/616489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225307

[Term]
id: MONDO:0014664
name: Joubert syndrome 23
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS23" EXACT [DOID:0110992, MONDO:Lexical, OMIM:616490]
synonym: "Joubert syndrome 23" EXACT [MONDO:Lexical, OMIM:616490]
synonym: "Joubert syndrome 23; JBTS23" RELATED [OMIM:616490]
synonym: "Joubert syndrome caused by mutation in KIAA0586" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 23" EXACT [DOID:0110992, MONDORULE:2, OMIM:616490]
synonym: "KIAA0586 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110992 {source="MONDO:equivalentTo"}
xref: OMIM:616490 {source="MONDO:equivalentTo", source="DOID:0110992"}
xref: UMLS:C4084822 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:616490", source="DOID:0110992", source="MONDO:Redundant", source="OMIM:616490"} ! Joubert syndrome
property_value: exactMatch DOID:0110992
property_value: exactMatch http://identifiers.org/omim/616490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084822

[Term]
id: MONDO:0014665
name: Charcot-Marie-Tooth disease axonal type 2V
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:447964"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" EXACT [Orphanet:447964]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178]
synonym: "Charcot-Marie-Tooth disease caused by mutation in NAGLU" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" RELATED [OMIM:616491]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" RELATED [MONDO:Lexical, OMIM:616491]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2V; CMT2V" RELATED [OMIM:616491]
synonym: "Charcot-Marie-Tooth neuropathy type 2V" EXACT [DOID:0110178]
synonym: "Charcot-Marie-Tooth neuropathy, type 2V" RELATED [OMIM:616491]
synonym: "CMT2V" EXACT [DOID:0110178, MONDO:Lexical, OMIM:616491, Orphanet:447964]
synonym: "hereditary adult-onset painful axonal polyneuropathy" EXACT [Orphanet:447964]
synonym: "NAGLU Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110178 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:447964", source="ORDO:447964/attributed", source="ORDO:447964/ntbt"}
xref: OMIM:616491 {source="ORDO:447964/e", source="Orphanet:447964", source="MONDO:equivalentTo", source="DOID:0110178"}
xref: Orphanet:447964 {source="MONDO:equivalentTo", source="DOID:0110178"}
xref: UMLS:C4225306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110178", source="Orphanet:447964"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110178
property_value: exactMatch http://identifiers.org/omim/616491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225306
property_value: exactMatch Orphanet:447964

[Term]
id: MONDO:0014666
name: hypomyelinating leukodystrophy 11
def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HLD11" EXACT [DOID:0060792, MONDO:Lexical, OMIM:616494]
synonym: "hypomyelinating leukodystrophy type 11" EXACT [DOID:0060792, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in POLR1C" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 11" RELATED [MONDO:Lexical, OMIM:616494]
synonym: "leukodystrophy, hypomyelinating, 11; HLD11" RELATED [OMIM:616494]
synonym: "leukodystrophy, hypomyelinating, type 11" EXACT [MONDORULE:2, OMIM:616494]
synonym: "POLR1C leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060792 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="DOID:0060792"}
xref: OMIM:616494 {source="DOID:0060792", source="MONDO:equivalentTo"}
xref: UMLS:C4225305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="DOID", source="DOID:0060792", source="DOID:0060792/inferred", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy
is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
property_value: exactMatch DOID:0060792
property_value: exactMatch http://identifiers.org/omim/616494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225305

[Term]
id: MONDO:0014667
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" EXACT [MONDO:Lexical, OMIM:616500]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; CEMCOX3" RELATED [OMIM:616500]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" EXACT [MONDORULE:1, OMIM:616500]
synonym: "CEMCOX3" RELATED [MONDO:Lexical, OMIM:616500]
synonym: "COA5 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA5" EXACT [MONDO:design_pattern]
xref: OMIM:616500 {source="MONDO:equivalentTo"}
xref: UMLS:C4225154 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015487 {source="DC-OMIM:616500", source="MONDO:Redundant", source="MONDOLEX:0014667"} ! fatal infantile encephalocardiomyopathy
property_value: exactMatch http://identifiers.org/omim/616500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225154

[Term]
id: MONDO:0014668
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" EXACT [MONDO:Lexical, OMIM:616501]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4; CEMCOX4" RELATED [OMIM:616501]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" EXACT [MONDORULE:1, OMIM:616501]
synonym: "CEMCOX4" RELATED [MONDO:Lexical, OMIM:616501]
synonym: "COA6 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA6" EXACT [MONDO:design_pattern]
xref: OMIM:616501 {source="MONDO:equivalentTo"}
xref: UMLS:C4225304 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015487 {source="DC-OMIM:616501", source="MONDO:Redundant", source="MONDOLEX:0014668"} ! fatal infantile encephalocardiomyopathy
property_value: exactMatch http://identifiers.org/omim/616501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225304

[Term]
id: MONDO:0014669
name: cone-rod dystrophy 21
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 21" EXACT [MONDO:Lexical, OMIM:616502]
synonym: "cone-rod dystrophy 21; CORD21" RELATED [OMIM:616502]
synonym: "cone-rod dystrophy caused by mutation in DRAM2" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 21" EXACT [MONDORULE:2, OMIM:616502]
synonym: "CORD21" RELATED [MONDO:Lexical, OMIM:616502]
synonym: "DRAM2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal dystrophy with early macular involvement" RELATED [OMIM:616502]
xref: OMIM:616502 {source="MONDO:equivalentTo"}
xref: UMLS:C4049066 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN231743 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015993 {source="MONDO:Redundant"} ! cone-rod dystrophy
property_value: exactMatch http://identifiers.org/omim/616502
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231743

[Term]
id: MONDO:0014670
name: lethal congenital contracture syndrome 9
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." [MONDO:design_pattern]
synonym: "ADGRG6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS9" RELATED [MONDO:Lexical, OMIM:616503]
synonym: "lethal congenital contracture syndrome 9" EXACT [MONDO:Lexical, OMIM:616503]
synonym: "lethal congenital contracture syndrome 9; LCCS9" RELATED [OMIM:616503]
synonym: "lethal congenital contracture syndrome caused by mutation in ADGRG6" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 9" EXACT [MONDORULE:1, OMIM:616503]
xref: OMIM:616503 {source="MONDO:equivalentTo"}
xref: UMLS:C4225303 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017436 {source="DC-OMIM:616503", source="MONDO:Redundant", source="OMIM:616503"} ! lethal congenital contracture syndrome
property_value: exactMatch http://identifiers.org/omim/616503
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225303

[Term]
id: MONDO:0014671
name: neuropathy, hereditary motor and sensory, type 6B
def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Charcot-Marie-Tooth disease, type 6B" EXACT [OMIM:616505]
synonym: "CMT6B" EXACT [OMIM:616505]
synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46" EXACT [MONDO:design_pattern]
synonym: "HMSN 6B" EXACT [OMIM:616505]
synonym: "HMSN6B" EXACT [MONDO:Lexical, OMIM:616505]
synonym: "neuropathy, hereditary motor and sensory, type VIB" EXACT [MONDO:Lexical, OMIM:616505]
synonym: "neuropathy, hereditary motor and sensory, type VIB; HMSN6B" EXACT [OMIM:616505]
synonym: "SLC25A46 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009075 {source="MONDO:equivalentTo"}
xref: OMIM:616505 {source="MONDO:equivalentTo"}
xref: UMLS:C4225302 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002316 {source="DC-OMIM:616505"} ! motor peripheral neuropathy
is_a: MONDO:0019551 {source="MONDO:Redundant", source="ORDO:90120/btnt"} ! hereditary motor and sensory neuropathy type 6
property_value: exactMatch http://identifiers.org/omim/616505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225302

[Term]
id: MONDO:0014672
name: osteogenesis imperfecta type 17
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "OI17" EXACT [DOID:0110338, MONDO:Lexical, OMIM:616507]
synonym: "osteogenesis imperfecta caused by mutation in SPARC" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XVII" EXACT [DOID:0110338]
synonym: "osteogenesis imperfecta, type 17" RELATED [OMIM:616507]
synonym: "osteogenesis imperfecta, type XVII" RELATED [MONDO:Lexical, OMIM:616507]
synonym: "osteogenesis imperfecta, type XVII; OI17" RELATED [OMIM:616507]
synonym: "SPARC osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110338 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="DOID:0110338"}
xref: OMIM:616507 {source="DOID:0110338", source="MONDO:equivalentTo"}
xref: UMLS:C4225301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="DC-OMIM:616507", source="DOID:0110338", source="MONDO:Redundant", source="OMIM:616507"} ! osteogenesis imperfecta
property_value: exactMatch DOID:0110338
property_value: exactMatch http://identifiers.org/omim/616507
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225301

[Term]
id: MONDO:0014673
name: cataract 44
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 44" EXACT [MONDO:Lexical, OMIM:616509]
synonym: "cataract 44; CTRCT44" RELATED [OMIM:616509]
synonym: "cataract type 44" EXACT [DOID:0110267, MONDORULE:2, OMIM:616509]
synonym: "CTRCT44" EXACT [DOID:0110267, MONDO:Lexical, OMIM:616509]
synonym: "early-onset non-syndromic cataract caused by mutation in LSS" EXACT [MONDO:design_pattern]
synonym: "LSS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "total early-onset cataract" BROAD [DOID:0110267]
xref: DOID:0110267 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110267"}
xref: OMIM:616509 {source="MONDO:equivalentTo", source="DOID:0110267"}
xref: UMLS:C4225300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110267
property_value: exactMatch http://identifiers.org/omim/616509
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225300

[Term]
id: MONDO:0014674
name: maturity-onset diabetes of the young type 14
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "APPL1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in APPL1" EXACT []
synonym: "maturity-onset diabetes of the young, type 14" RELATED [MONDO:Lexical, OMIM:616511]
synonym: "maturity-onset diabetes of the young, type 14; MODY14" RELATED [OMIM:616511]
synonym: "MODY14" EXACT [DOID:0111111, MONDO:Lexical, OMIM:616511]
xref: DOID:0111111 {source="MONDO:equivalentTo"}
xref: OMIM:616511 {source="MONDO:equivalentTo", source="DOID:0111111"}
xref: UMLS:C4225299 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018911 {source="DC-OMIM:616511", source="DOID:0111111", source="MONDO:Redundant"} ! maturity-onset diabetes of the young (disease)
property_value: exactMatch DOID:0111111
property_value: exactMatch http://identifiers.org/omim/616511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225299

[Term]
id: MONDO:0014675
name: autosomal recessive nonsyndromic deafness 104
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 104" EXACT [DOID:0110465]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 104" EXACT [DOID:0110465, MONDORULE:2]
synonym: "deafness, autosomal recessive 104" RELATED [MONDO:Lexical, OMIM:616515]
synonym: "deafness, autosomal recessive 104; DFNB104" RELATED [OMIM:616515]
synonym: "deafness, autosomal recessive type 104" EXACT [MONDORULE:2, OMIM:616515]
synonym: "DFNB104" EXACT [DOID:0110465, MONDO:Lexical, OMIM:616515]
synonym: "RIPOR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110465 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110465"}
xref: OMIM:616515 {source="MONDO:equivalentTo", source="DOID:0110465"}
xref: UMLS:C4225298 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:616515", source="DOID:0110465", source="MONDO:Redundant", source="OMIM:616515"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110465
property_value: exactMatch http://identifiers.org/omim/616515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225298

[Term]
id: MONDO:0014676
name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
def: "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "EDMD3" RELATED [MONDO:Lexical, OMIM:616516]
synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616516]
synonym: "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive; EDMD3" RELATED [OMIM:616516]
synonym: "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070248 {source="MONDO:equivalentTo"}
xref: MESH:C567633 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616516 {source="MONDO:equivalentTo"}
xref: UMLS:C2750035 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008406 {source="MONDO:Redundant", source="MONDOLEX:0014676", source="ORDO:98855/btnt"} ! autosomal recessive Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch DOID:0070248
property_value: exactMatch http://identifiers.org/mesh/C567633
property_value: exactMatch http://identifiers.org/omim/616516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750035

[Term]
id: MONDO:0014677
name: achromatopsia 7
def: "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACHM7" EXACT [DOID:0110009, MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia 7" EXACT [MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia 7; ACHM7" RELATED [OMIM:616517]
synonym: "achromatopsia caused by mutation in ATF6" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 7" EXACT [DOID:0110009, MONDORULE:1, OMIM:616517]
synonym: "ATF6 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110009 {source="MONDO:equivalentTo"}
xref: OMIM:616517 {source="DOID:0110009", source="MONDO:equivalentTo"}
xref: UMLS:C4225297 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018852 {source="DC-OMIM:616517", source="DOID:0110009", source="MONDO:Redundant", source="MONDOLEX:0014677"} ! achromatopsia
property_value: exactMatch DOID:0110009
property_value: exactMatch http://identifiers.org/omim/616517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225297

[Term]
id: MONDO:0014678
name: intellectual disability, autosomal dominant 39
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 39" EXACT [DOID:0070069]
synonym: "autosomal dominant non-syndromic intellectual disability 39" RELATED [DOID:0070069]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L" EXACT [MONDO:design_pattern]
synonym: "chromosome 2P25.3 deletion syndrome" RELATED [OMIM:616521]
synonym: "chromosome 2P25.3 Duplication syndrome" RELATED [OMIM:616521]
synonym: "mental retardation, autosomal dominant 39" RELATED [MONDO:Lexical, OMIM:616521]
synonym: "mental retardation, autosomal dominant 39; MRD39" RELATED [OMIM:616521]
synonym: "mental retardation, autosomal dominant type 39" EXACT [MONDORULE:2, OMIM:616521]
synonym: "MRD39" EXACT [DOID:0070069, MONDO:Lexical, OMIM:616521]
synonym: "MYT1L autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070069 {source="MONDO:equivalentTo"}
xref: OMIM:616521 {source="DOID:0070069", source="MONDO:equivalentTo"}
xref: UMLS:C4225296 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616521", source="DOID:0070069", source="MONDO:Redundant", source="OMIM:616521"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070069
property_value: exactMatch http://identifiers.org/omim/616521
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225296

[Term]
id: MONDO:0014679
name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
synonym: "PMGYCHA" RELATED [MONDO:Lexical, OMIM:616531]
synonym: "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" EXACT [MONDO:Lexical, OMIM:616531]
synonym: "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; PMGYCHA" RELATED [OMIM:616531]
xref: OMIM:616531 {source="MONDO:equivalentTo"}
xref: UMLS:C4225295 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria
property_value: exactMatch http://identifiers.org/omim/616531
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225295

[Term]
id: MONDO:0014680
name: herpes simplex encephalitis, susceptibility to, 7
def: "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7" RELATED [OMIM:616532]
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7; IIAE7" RELATED [OMIM:616532]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 7" RELATED [OMIM:616532]
synonym: "herpes simplex encephalitis caused by mutation in IRF3" EXACT [MONDO:design_pattern]
synonym: "Herpes simplex encephalitis, susceptibility to, 5" RELATED [OMIM:616532]
synonym: "herpes simplex encephalitis, susceptibility to, 7" EXACT [OMIM:616532]
synonym: "Herpes simplex encephalitis, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616532]
synonym: "IIAE7" RELATED [OMIM:616532]
synonym: "IRF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616532 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:616532", source="indirect"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0012521 {source="MONDO:Redundant", source="MONDOLEX:0014680", source="ORDO:1930/btnt"} ! herpes simplex encephalitis
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225294
property_value: exactMatch http://identifiers.org/omim/616532

[Term]
id: MONDO:0014681
name: thyroid cancer, nonmedullary, 4
def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FOXE1 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NMTC4" RELATED [MONDO:Lexical, OMIM:616534]
synonym: "thyroid cancer, nonmedullary caused by mutation in FOXE1" EXACT [MONDO:design_pattern]
synonym: "thyroid cancer, nonmedullary, 4" EXACT [MONDO:Lexical, OMIM:616534]
synonym: "thyroid cancer, nonmedullary, 4; NMTC4" RELATED [OMIM:616534]
synonym: "thyroid cancer, nonmedullary, type 4" EXACT [MONDORULE:1, OMIM:616534]
xref: OMIM:616534 {source="MONDO:equivalentTo"}
xref: UMLS:C4225293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005034 ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: exactMatch http://identifiers.org/omim/616534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225293

[Term]
id: MONDO:0014682
name: thyroid cancer, nonmedullary, 5
def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HABP2 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NMTC5" RELATED [MONDO:Lexical, OMIM:616535]
synonym: "thyroid cancer, nonmedullary caused by mutation in HABP2" EXACT [MONDO:design_pattern]
synonym: "thyroid cancer, nonmedullary, 5" EXACT [MONDO:Lexical, OMIM:616535]
synonym: "thyroid cancer, nonmedullary, 5; NMTC5" RELATED [OMIM:616535]
synonym: "thyroid cancer, nonmedullary, type 5" EXACT [MONDORULE:1, OMIM:616535]
xref: OMIM:616535 {source="MONDO:equivalentTo"}
xref: UMLS:C4225292 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005034 ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: exactMatch http://identifiers.org/omim/616535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225292

[Term]
id: MONDO:0014683
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
synonym: "MDDGA9" RELATED [MONDO:Lexical, OMIM:616538]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" RELATED [MONDO:Lexical, OMIM:616538]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; MDDGA9" RELATED [OMIM:616538]
synonym: "Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related" RELATED [OMIM:616538]
xref: OMIM:616538 {source="MONDO:equivalentTo"}
xref: UMLS:C4225291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000171 {source="OMIM:616538"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0019523 {source="ORDO:899/btnt"} ! Walker-Warburg syndrome
property_value: exactMatch http://identifiers.org/omim/616538
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225291

[Term]
id: MONDO:0014684
name: combined oxidative phosphorylation defect type 26
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:477684"}
synonym: "combined oxidative phosphorylation deficiency 26" RELATED [MONDO:Lexical, OMIM:616539]
synonym: "combined oxidative phosphorylation deficiency 26; COXPD26" RELATED [OMIM:616539]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT5" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 26" EXACT [MONDORULE:2, OMIM:616539]
synonym: "COXPD26" EXACT [MONDO:Lexical, OMIM:616539, Orphanet:477684]
synonym: "TRMT5 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009036 {source="MONDO:equivalentTo"}
xref: OMIM:616539 {source="Orphanet:477684", source="MONDO:equivalentTo"}
xref: Orphanet:477684 {source="MONDO:equivalentTo"}
xref: UMLS:C4225290 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616539", source="MONDO:Redundant", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0018157 {source="EFO:0009036", source="Orphanet:477684"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/616539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225290
property_value: exactMatch Orphanet:477684

[Term]
id: MONDO:0014685
name: progressive myoclonic epilepsy type 9
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:457265"}
synonym: "epilepsy, progressive myoclonic, 9" RELATED [MONDO:Lexical, OMIM:616540]
synonym: "epilepsy, progressive myoclonic, 9; EPM9" RELATED [OMIM:616540]
synonym: "epilepsy, progressive myoclonic, type 9" EXACT [MONDORULE:1, OMIM:616540]
synonym: "EPM9" EXACT [MONDO:Lexical, OMIM:616540, Orphanet:457265]
synonym: "LMNB2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PME type 9" EXACT [Orphanet:457265]
synonym: "progressive myoclonic epilepsy caused by mutation in LMNB2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [Orphanet:457265]
synonym: "progressive myoclonus epilepsy type 9" EXACT [Orphanet:457265]
xref: ICD10:G40.3 {source="Orphanet:457265", source="ORDO:457265/attributed", source="ORDO:457265/ntbt"}
xref: OMIM:616540 {source="MONDO:equivalentTo", source="Orphanet:457265", source="ORDO:457265/e"}
xref: Orphanet:457265 {source="MONDO:equivalentTo"}
xref: UMLS:C4225289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020074 {source="DC-OMIM:616540", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/616540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225289
property_value: exactMatch Orphanet:457265

[Term]
id: MONDO:0014686
name: short stature, microcephaly, and endocrine dysfunction
synonym: "short stature, microcephaly, and endocrine dysfunction" EXACT [MONDO:Lexical, OMIM:616541]
synonym: "short stature, microcephaly, and endocrine dysfunction; SSMED" RELATED [OMIM:616541]
synonym: "SSMED" RELATED [MONDO:Lexical, OMIM:616541]
xref: OMIM:616541 {source="MONDO:equivalentTo"}
xref: UMLS:C4225288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018575 {source="ORDO:436182/btnt"} ! microcephalic primordial dwarfism-insulin resistance syndrome
property_value: exactMatch http://identifiers.org/omim/616541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225288

[Term]
id: MONDO:0014687
name: retinitis pigmentosa 73
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HGSNAT retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 73" EXACT [MONDO:Lexical, OMIM:616544]
synonym: "retinitis pigmentosa 73; RP73" RELATED [OMIM:616544]
synonym: "retinitis pigmentosa caused by mutation in HGSNAT" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 73" EXACT [DOID:0110389, MONDORULE:2, OMIM:616544]
synonym: "RP73" EXACT [DOID:0110389, MONDO:Lexical, OMIM:616544]
xref: DOID:0110389 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110389"}
xref: OMIM:616544 {source="MONDO:equivalentTo", source="DOID:0110389"}
xref: UMLS:C4225287 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:616544", source="DOID:0110389", source="MONDO:Redundant", source="OMIM:616544"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110389
property_value: exactMatch http://identifiers.org/omim/616544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225287

[Term]
id: MONDO:0014688
name: short-rib thoracic dysplasia 14 with polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23." [DOID:0110096, PMID:26166481]
synonym: "short-rib thoracic dysplasia 14 with polydactyly" EXACT [MONDO:Lexical, OMIM:616546]
synonym: "short-rib thoracic dysplasia 14 with polydactyly; SRTD14" RELATED [OMIM:616546]
synonym: "SRTD14" EXACT [DOID:0110096, MONDO:Lexical, OMIM:616546]
xref: DOID:0110096 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="DOID:0110096"}
xref: OMIM:616546 {source="MONDO:equivalentTo", source="DOID:0110096"}
xref: UMLS:C4225286 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a: MONDO:0018770 {source="DOID:0110096", source="OMIM:616546"} ! Jeune syndrome
property_value: exactMatch DOID:0110096
property_value: exactMatch http://identifiers.org/omim/616546
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225286

[Term]
id: MONDO:0014689
name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:447974"}
synonym: "KFS4" RELATED [MONDO:Lexical, OMIM:616549]
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:616549]
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism; KFS4" RELATED [OMIM:616549]
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" RELATED [OMIM:616549]
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism; KFS4" RELATED [OMIM:616549]
xref: ICD10:Q76.1 {source="MONDO:subClassOf", source="Orphanet:447974", source="ORDO:447974/attributed", source="ORDO:447974/ntbt"}
xref: OMIM:616549 {source="Orphanet:447974", source="ORDO:447974/e", source="MONDO:equivalentTo"}
xref: Orphanet:447974 {source="MONDO:equivalentTo"}
xref: UMLS:C4225285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001029 {source="OMIM:616549"} ! Klippel-Feil syndrome
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019952 {source="Orphanet:447974"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/omim/616549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225285
property_value: exactMatch Orphanet:447974

[Term]
id: MONDO:0014690
name: dyskeratosis congenita, autosomal dominant 6
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1." [DOID:0070023]
synonym: "autosomal dominant dyskeratosis congenita 6" RELATED [DOID:0070023]
synonym: "DKCA6" EXACT [DOID:0070023, MONDO:Lexical, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal dominant 6" EXACT [MONDO:Lexical, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal dominant 6; DKCA6" RELATED [OMIM:616553]
synonym: "dyskeratosis congenita, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal recessive 7" RELATED [OMIM:616553]
xref: DOID:0070023 {source="MONDO:equivalentTo"}
xref: OMIM:616553 {source="DOID:0070023", source="MONDO:equivalentTo"}
xref: UMLS:C4225284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0015780 {source="DOID:0070023", source="MONDO:Redundant", source="OMIM:616553"} ! dyskeratosis congenita
is_a: MONDO:0018340 {source="ORDO:397692/btnt"} ! hereditary isolated aplastic anemia
property_value: exactMatch DOID:0070023
property_value: exactMatch http://identifiers.org/omim/616553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225284

[Term]
id: MONDO:0014691
name: Noonan syndrome 9
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 9" EXACT [MONDO:Lexical, OMIM:616559]
synonym: "Noonan syndrome 9; NS9" RELATED [OMIM:616559]
synonym: "Noonan syndrome caused by mutation in SOS2" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 9" EXACT [DOID:0060587, MONDORULE:1, OMIM:616559]
synonym: "NS9" EXACT [DOID:0060587, MONDO:Lexical, OMIM:616559]
synonym: "SOS2 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060587 {source="MONDO:equivalentTo"}
xref: OMIM:616559 {source="DOID:0060587", source="MONDO:equivalentTo"}
xref: UMLS:C4225282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:616559", source="DOID:0060587", source="MONDO:Redundant", source="OMIM:616559"} ! Noonan syndrome
property_value: exactMatch DOID:0060587
property_value: exactMatch http://identifiers.org/omim/616559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225282

[Term]
id: MONDO:0014692
name: retinitis pigmentosa 74
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BBS2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 74" EXACT [MONDO:Lexical, OMIM:616562]
synonym: "retinitis pigmentosa 74; RP74" RELATED [OMIM:616562]
synonym: "retinitis pigmentosa caused by mutation in BBS2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 74" EXACT [DOID:0110401, MONDORULE:2, OMIM:616562]
synonym: "RP74" EXACT [DOID:0110401, MONDO:Lexical, OMIM:616562]
xref: DOID:0110401 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="DOID:0110401", source="MONDO:relatedTo"}
xref: OMIM:616562 {source="DOID:0110401", source="MONDO:equivalentTo"}
xref: UMLS:C4225281 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:616562", source="DOID:0110401", source="MONDO:Redundant", source="OMIM:616562"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110401
property_value: exactMatch http://identifiers.org/omim/616562
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225281

[Term]
id: MONDO:0014693
name: Noonan syndrome 10
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LZTR1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 10" EXACT [MONDO:Lexical, OMIM:616564]
synonym: "Noonan syndrome 10; NS10" RELATED [OMIM:616564]
synonym: "Noonan syndrome caused by mutation in LZTR1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 10" EXACT [DOID:0060588, MONDORULE:2, OMIM:616564]
synonym: "NS10" EXACT [DOID:0060588, MONDO:Lexical, OMIM:616564]
xref: DOID:0060588 {source="MONDO:equivalentTo"}
xref: OMIM:616564 {source="MONDO:equivalentTo", source="DOID:0060588"}
xref: UMLS:C4225280 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="DC-OMIM:616564", source="DOID:0060588", source="MONDO:Redundant", source="OMIM:616564"} ! Noonan syndrome
property_value: exactMatch DOID:0060588
property_value: exactMatch http://identifiers.org/omim/616564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225280

[Term]
id: MONDO:0014694
name: spondylocostal dysostosis 6, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2" EXACT [MONDO:design_pattern]
synonym: "RIPPLY2 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCDO6" RELATED [MONDO:Lexical, OMIM:616566]
synonym: "spondylocostal dysostosis 6" RELATED [GARD:0012807]
synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616566]
synonym: "spondylocostal dysostosis 6, autosomal recessive; SCDO6" RELATED [OMIM:616566]
xref: GARD:0012807 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:616566 {source="MONDO:equivalentTo"}
xref: UMLS:C4225279 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010180 {source="MONDO:Redundant", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
property_value: exactMatch http://identifiers.org/omim/616566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225279

[Term]
id: MONDO:0014695
name: glioma susceptibility 9
def: "Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568]
synonym: "glioma susceptibility 9; GLM9" RELATED [OMIM:616568]
synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568]
synonym: "GLM9" RELATED [MONDO:Lexical, OMIM:616568]
synonym: "malignant glioma caused by mutation in POT1" EXACT []
synonym: "malignant glioma caused by mutation in Pot1" EXACT [MONDO:design_pattern]
synonym: "POT1 malignant glioma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Pot1 malignant glioma" EXACT [MONDO:design_pattern]
xref: OMIM:616568 {source="MONDO:equivalentTo"}
is_a: MONDO:0015917 {source="DC-OMIM:616568", source="MONDO:Redundant", source="MONDOLEX:0014695", source="OMIM:616568"} ! malignant glioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225278
property_value: exactMatch http://identifiers.org/omim/616568

[Term]
id: MONDO:0014696
name: cerebrooculofacioskeletal syndrome 3
synonym: "cerebrooculofacioskeletal syndrome 3" EXACT [MONDO:Lexical, OMIM:616570]
synonym: "cerebrooculofacioskeletal syndrome 3; COFS3" EXACT [OMIM:616570]
synonym: "cerebrooculofacioskeletal syndrome type 3" EXACT [MONDORULE:1, OMIM:616570]
synonym: "COFS3" RELATED [MONDO:Lexical, OMIM:616570]
xref: MESH:C565035 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616570 {source="MONDO:equivalentTo"}
xref: UMLS:C1851443 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008926 {source="DC-OMIM:616570", source="OMIM:616570"} ! COFS syndrome
property_value: exactMatch http://identifiers.org/mesh/C565035
property_value: exactMatch http://identifiers.org/omim/616570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851443

[Term]
id: MONDO:0014697
name: immunodeficiency, common variable, 12
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "common variable immunodeficiency caused by mutation in NFKB1" EXACT [MONDO:design_pattern]
synonym: "CVID12" RELATED [MONDO:Lexical, OMIM:616576]
synonym: "immunodeficiency, common variable, 12" EXACT [MONDO:Lexical, OMIM:616576]
synonym: "immunodeficiency, common variable, 12; CVID12" RELATED [OMIM:616576]
synonym: "immunodeficiency, common variable, type 12" EXACT [MONDORULE:2, OMIM:616576]
synonym: "NFKB1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NFKB1 deficiency" RELATED [OMIM:616576]
xref: OMIM:616576 {source="MONDO:equivalentTo"}
xref: UMLS:C4225277 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:616576", source="MONDO:Redundant", source="MONDOLEX:0014697", source="OMIM:616576"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/616576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225277

[Term]
id: MONDO:0014698
name: microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457351"}
synonym: "EHLMRS" RELATED [MONDO:Lexical, OMIM:616577]
synonym: "epilepsy, hearing loss, and mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:616577]
synonym: "epilepsy, hearing loss, and mental retardation syndrome; EHLMRS" RELATED [OMIM:616577]
synonym: "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" EXACT [Orphanet:457351]
xref: OMIM:616577 {source="MONDO:equivalentTo", source="Orphanet:457351", source="ORDO:457351/e"}
xref: Orphanet:457351 {source="MONDO:equivalentTo"}
xref: UMLS:C4225276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:457351"} ! syndromic intellectual disability
is_a: MONDO:0005328 {source="Orphanet:457351"} ! eye disease
is_a: MONDO:0019589 {source="Orphanet:457351"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/616577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225276
property_value: exactMatch Orphanet:457351

[Term]
id: MONDO:0014699
name: intellectual disability, autosomal dominant 40
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 40" EXACT [DOID:0070070]
synonym: "autosomal dominant non-syndromic intellectual disability 40" RELATED [DOID:0070070]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1" EXACT [MONDO:design_pattern]
synonym: "CHAMP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 40" RELATED [MONDO:Lexical, OMIM:616579]
synonym: "mental retardation, autosomal dominant 40; MRD40" RELATED [OMIM:616579]
synonym: "mental retardation, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616579]
synonym: "MRD40" EXACT [DOID:0070070, MONDO:Lexical, OMIM:616579]
xref: DOID:0070070 {source="MONDO:equivalentTo"}
xref: OMIM:616579 {source="MONDO:equivalentTo", source="DOID:0070070"}
xref: UMLS:C4225275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616579", source="DOID:0070070", source="MONDO:Redundant", source="OMIM:616579"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070070
property_value: exactMatch http://identifiers.org/omim/616579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225275

[Term]
id: MONDO:0014700
name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:453504"}
synonym: "AU-Kline syndrome" RELATED [MONDO:Lexical, OMIM:616580]
synonym: "Au-Kline syndrome" EXACT [Orphanet:453504]
synonym: "AU-Kline syndrome; AUKS" RELATED [OMIM:616580]
synonym: "AUKS" RELATED [MONDO:Lexical, OMIM:616580]
xref: OMIM:616580 {source="MONDO:equivalentTo", source="Orphanet:453504", source="ORDO:453504/e"}
xref: Orphanet:453504 {source="MONDO:equivalentTo"}
xref: UMLS:C4225274 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN237748 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018681 {source="Orphanet:453504"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
property_value: exactMatch http://identifiers.org/omim/616580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237748
property_value: exactMatch Orphanet:453504

[Term]
id: MONDO:0014701
name: spondyloepiphyseal dysplasia, Stanescu type
subset: clingen
subset: ordo_disease {source="Orphanet:459051"}
synonym: "SED, Stanescu type" EXACT [OMIM:616583, Orphanet:459051]
synonym: "SEDSTN" EXACT [MONDO:Lexical, OMIM:616583]
synonym: "spondyloepiphyseal dysplasia, Stanescu type" EXACT [MONDO:Lexical, OMIM:616583]
synonym: "spondyloepiphyseal dysplasia, Stanescu type; SEDSTN" RELATED [OMIM:616583]
xref: ICD10:Q77.7 {source="ORDO:459051/attributed", source="ORDO:459051/ntbt", source="Orphanet:459051"}
xref: OMIM:616583 {source="ORDO:459051/e", source="MONDO:equivalentTo", source="Orphanet:459051"}
xref: Orphanet:459051 {source="MONDO:equivalentTo"}
xref: UMLS:C4225273 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:459051"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019686 {source="Orphanet:459051"} ! type 2 collagen-related bone disorder
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: exactMatch http://identifiers.org/omim/616583
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225273
property_value: exactMatch Orphanet:459051

[Term]
id: MONDO:0014702
name: autosomal recessive complex spastic paraplegia type 9B
def: "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: the DO definition is hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8
subset: ordo_disease {source="Orphanet:447760"}
synonym: "ALDH18A1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "AR-SPG9B" EXACT [Orphanet:447760]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [DOID:0110825]
synonym: "autosomal recessive spastic paraplegia 9B" EXACT [DOID:0110825]
synonym: "hereditary spastic paraplegia 9B" RELATED [DOID:0110825]
synonym: "hereditary spastic paraplegia type 9B" EXACT [DOID:0110825, MONDORULE:4]
synonym: "spastic paraplegia 9B, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616586]
synonym: "spastic paraplegia 9B, autosomal recessive; SPG9B" RELATED [OMIM:616586]
synonym: "SPG9B" EXACT [DOID:0110825, MONDO:Lexical, OMIM:616586]
xref: DOID:0110825 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:447760/attributed", source="ORDO:447760/ntbt", source="DOID:0110825", source="Orphanet:447760"}
xref: OMIM:616586 {source="MONDO:equivalentTo", source="DOID:0110825", source="ORDO:447760/e", source="Orphanet:447760"}
xref: Orphanet:447760 {source="MONDO:equivalentTo", source="DOID:0110825"}
xref: UMLS:C4225272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:447760"} ! syndromic intellectual disability
is_a: MONDO:0015089 {source="MONDO:Redundant", source="MONDOLEX:0014702", source="Orphanet:447760"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
property_value: exactMatch DOID:0110825
property_value: exactMatch http://identifiers.org/omim/616586
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225272
property_value: exactMatch Orphanet:447760

[Term]
id: MONDO:0014703
name: Adams-Oliver syndrome 6
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Adams-Oliver syndrome 6" EXACT [MONDO:Lexical, OMIM:616589]
synonym: "Adams-Oliver syndrome 6; AOS6" RELATED [OMIM:616589]
synonym: "Adams-Oliver syndrome caused by mutation in DLL4" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 6" EXACT [MONDORULE:1, OMIM:616589]
synonym: "AOS6" RELATED [MONDO:Lexical, OMIM:616589]
synonym: "DLL4 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616589 {source="MONDO:equivalentTo"}
xref: UMLS:C4225271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616589", source="ORDO:974/btnt"} ! Adams-Oliver syndrome
property_value: exactMatch http://identifiers.org/omim/616589
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225271

[Term]
id: MONDO:0014704
name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
subset: ordo_malformation_syndrome {source="Orphanet:477831"}
synonym: "KOGS" RELATED [MONDO:Lexical, OMIM:616592]
synonym: "Kosaki overgrowth syndrome" EXACT [MONDO:Lexical, OMIM:616592, Orphanet:477831]
synonym: "Kosaki overgrowth syndrome; KOGS" RELATED [OMIM:616592]
synonym: "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration" RELATED [OMIM:616592]
xref: OMIM:616592 {source="Orphanet:477831", source="MONDO:equivalentTo"}
xref: Orphanet:477831 {source="MONDO:equivalentTo"}
xref: UMLS:C4225270 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:477831", source="Orphanet:477831/inferred"} ! primary bone dysplasia
property_value: exactMatch http://identifiers.org/omim/616592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225270
property_value: exactMatch Orphanet:477831

[Term]
id: MONDO:0014705
name: craniosynostosis 6
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis 6" EXACT [MONDO:Lexical, OMIM:616602]
synonym: "craniosynostosis 6; CRS6" RELATED [OMIM:616602]
synonym: "craniosynostosis caused by mutation in ZIC1" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 6" EXACT [MONDORULE:1, OMIM:616602]
synonym: "CRS6" RELATED [MONDO:Lexical, OMIM:616602]
synonym: "ZIC1 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616602 {source="MONDO:equivalentTo"}
xref: UMLS:C4225269 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly
is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly
is_a: MONDO:0018971 {source="ORDO:63440/btnt"} ! isolated oxycephaly
property_value: exactMatch http://identifiers.org/omim/616602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225269

[Term]
id: MONDO:0014706
name: cutis laxa, autosomal dominant 3
def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." [DOID:0070131]
synonym: "ADCL3" EXACT [DOID:0070131, MONDO:Lexical, OMIM:616603]
synonym: "autosomal dominant cutis laxa 3" RELATED [DOID:0070131]
synonym: "cutis laxa, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:616603]
synonym: "cutis laxa, autosomal dominant 3; ADCL3" RELATED [OMIM:616603]
synonym: "cutis laxa, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616603]
xref: DOID:0070131 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070131"}
xref: OMIM:616603 {source="DOID:0070131", source="MONDO:equivalentTo"}
xref: UMLS:C4225268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019571 {source="DOID:0070131", source="MONDO:Redundant", source="MONDOLEX:0014706", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
property_value: exactMatch DOID:0070131
property_value: exactMatch http://identifiers.org/omim/616603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225268

[Term]
id: MONDO:0014707
name: 14q32 duplication syndrome
def: "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed." [Orphanet:488280]
subset: ordo_disease
synonym: "chromosome 14q32 DUPLICATION syndrome, 700-KB" RELATED [OMIM:616604]
synonym: "dup(14)q(32)" EXACT [Orphanet:488280]
synonym: "myeloproliferative neoplasms, familial, susceptibility to" RELATED [OMIM:616604]
synonym: "predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication" EXACT [Orphanet:488280]
synonym: "trisomy 14q32" EXACT [Orphanet:488280]
xref: OMIM:616604 {source="MONDO:equivalentTo", source="Orphanet:488280"}
xref: Orphanet:488280 {source="MONDO:equivalentTo"}
xref: UMLS:C4225449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DC-OMIM:616604"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0016964 {source="Orphanet:488280"} ! partial duplication of the long arm of chromosome 14
is_a: MONDO:0020076 {source="Orphanet:488280"} ! myeloproliferative neoplasm
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/616604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225449
property_value: exactMatch Orphanet:488280

[Term]
id: MONDO:0014708
name: ring chromosome 14
def: "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." [Orphanet:1440]
subset: gard_rare {source="GARD:0006072"}
subset: ordo_malformation_syndrome {source="Orphanet:1440"}
synonym: "chromosome 14 ring" RELATED [GARD:0006072]
synonym: "Ring 14" RELATED [GARD:0006072]
synonym: "RING chromosome 14 syndrome" RELATED [OMIM:616606]
synonym: "Ring chromosome type 14" EXACT [MONDORULE:2, Orphanet:1440]
xref: GARD:0006072 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:1440", source="ORDO:1440/attributed", source="ORDO:1440/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535487 {source="Orphanet:1440", source="ORDO:1440/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616606 {source="Orphanet:1440", source="ORDO:1440/e", source="MONDO:equivalentTo"}
xref: Orphanet:1440 {source="MONDO:equivalentTo"}
xref: SCTID:702345009 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"}
xref: UMLS:CN233170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015652 {source="Orphanet:1440", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0018186 {source="MESH:C535487", source="Orphanet:1440"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C535487
property_value: exactMatch http://identifiers.org/omim/616606
property_value: exactMatch http://identifiers.org/snomedct/702345009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN233170
property_value: exactMatch Orphanet:1440
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 xsd:anyURI {source="GARD:0006072"}

[Term]
id: MONDO:0014709
name: Heimler syndrome 2
synonym: "Heimler syndrome 2" EXACT [MONDO:Lexical, OMIM:616617]
synonym: "HEIMLER syndrome 2; HMLR2" RELATED [OMIM:616617]
synonym: "Heimler syndrome type 2" EXACT [MONDORULE:1, OMIM:616617]
synonym: "HMLR2" RELATED [MONDO:Lexical, OMIM:616617]
synonym: "peroxisome biogenesis disorder 4C" RELATED [OMIM:616617]
xref: OMIM:616617 {source="MONDO:equivalentTo"}
xref: UMLS:C4225267 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009325 {source="ORDO:3220/btnt"} ! deafness-enamel hypoplasia-nail defects syndrome
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019234 {source="MONDO:Redundant", source="OMIM:616617", source="indirect"} ! peroxisome biogenesis disorder
property_value: exactMatch http://identifiers.org/omim/616617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225267

[Term]
id: MONDO:0014710
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:477857"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC" EXACT []
synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [Orphanet:477857]
synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [Orphanet:477857]
synonym: "IMD42" EXACT [OMIM:616622]
synonym: "immunodeficiency 42" EXACT [OMIM:616622]
synonym: "immunodeficiency 42; IMD42" RELATED [OMIM:616622]
synonym: "immunodeficiency type 42" EXACT [MONDORULE:2, OMIM:616622]
synonym: "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:616622 {source="MONDO:equivalentTo", source="Orphanet:477857"}
xref: Orphanet:477857 {source="MONDO:equivalentTo"}
xref: UMLS:C4225266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017897 {source="Orphanet:477857"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://identifiers.org/omim/616622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225266
property_value: exactMatch Orphanet:477857

[Term]
id: MONDO:0014711
name: autosomal dominant Charcot-Marie-Tooth disease type 2W
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W" EXACT [DOID:0110162]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation" EXACT [Orphanet:488333]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal type 2W" RELATED [DOID:0110162]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" RELATED [OMIM:616625]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2w" EXACT [OMIM:616625]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2W; CMT2W" RELATED [OMIM:616625]
synonym: "Charcot-Marie-Tooth neuropathy type 2W" EXACT [DOID:0110162]
synonym: "Charcot-Marie-Tooth neuropathy, type 2W" RELATED [OMIM:616625]
synonym: "CMT2W" EXACT [DOID:0110162, OMIM:616625, Orphanet:488333]
synonym: "HARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110162 {source="MONDO:equivalentTo"}
xref: OMIM:616625 {source="Orphanet:488333", source="MONDO:equivalentTo", source="DOID:0110162"}
xref: Orphanet:488333 {source="MONDO:equivalentTo"}
xref: UMLS:C4225265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110162", source="MONDO:Redundant", source="Orphanet:488333"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110162
property_value: exactMatch http://identifiers.org/omim/616625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225265
property_value: exactMatch Orphanet:488333

[Term]
id: MONDO:0014712
name: Senior-Loken syndrome 9
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Senior-Loken syndrome 9" EXACT [OMIM:616629]
synonym: "Senior-Loken syndrome 9; SLSN9" EXACT [MONDOLEX:0014712]
synonym: "Senior-Loken syndrome caused by mutation in TRAF3IP1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 9" EXACT [MONDORULE:1, OMIM:616629]
synonym: "SLSN9" EXACT ABBREVIATION [MONDOLEX:0014712, OMIM:616629]
synonym: "TRAF3IP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616629 {source="MONDO:equivalentTo"}
xref: UMLS:C4225263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017842 {source="DC-OMIM:616629", source="MONDO:Redundant", source="OMIM:616629"} ! Senior-Loken syndrome
property_value: exactMatch http://identifiers.org/omim/616629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225263

[Term]
id: MONDO:0014713
name: porokeratosis 9, multiple types
def: "Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FDPS porokeratosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POROK9" EXACT ABBREVIATION [MONDOLEX:0014713, OMIM:616631]
synonym: "porokeratosis (disease) caused by mutation in FDPS" EXACT []
synonym: "porokeratosis 9, multiple types" EXACT [OMIM:616631]
synonym: "porokeratosis 9, multiple types; POROK9" EXACT [MONDOLEX:0014713]
xref: OMIM:616631 {source="MONDO:equivalentTo"}
xref: UMLS:C4225262 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: exactMatch http://identifiers.org/omim/616631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225262

[Term]
id: MONDO:0014714
name: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
def: "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." [Orphanet:477814]
subset: ordo_malformation_syndrome {source="Orphanet:477814"}
synonym: "SCBMS" EXACT [OMIM:616632]
synonym: "seizures, cortical blindness, and microcephaly syndrome" RELATED [OMIM:616632]
synonym: "seizures, cortical blindness, and microcephaly syndrome; SCBMS" RELATED [OMIM:616632]
synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [OMIM:616632]
xref: OMIM:616632 {source="MONDO:equivalentTo", source="Orphanet:477814"}
xref: Orphanet:477814 {source="MONDO:equivalentTo"}
xref: UMLS:C4225261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017119 {source="Orphanet:477814"} ! syndrome with microcephaly as major feature
is_a: MONDO:0020262 {source="Orphanet:477814"} ! nervous system anomaly with eye involvement
property_value: exactMatch http://identifiers.org/omim/616632
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225261
property_value: exactMatch Orphanet:477814

[Term]
id: MONDO:0014715
name: primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
def: "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis." [Orphanet:431166]
subset: ordo_disease {source="Orphanet:431166"}
synonym: "IMD44" EXACT [OMIM:616636]
synonym: "immunodeficiency 44" EXACT [OMIM:616636]
synonym: "immunodeficiency 44; IMD44" RELATED [OMIM:616636]
synonym: "immunodeficiency type 44" EXACT [MONDORULE:2, OMIM:616636]
synonym: "primary immunodeficiency with post-MMR vaccine viral infection" EXACT [Orphanet:431166]
xref: ICD10:D84.8 {source="Orphanet:431166", source="ORDO:431166/attributed", source="ORDO:431166/ntbt"}
xref: OMIM:616636 {source="Orphanet:431166", source="ORDO:431166/e", source="MONDO:equivalentTo"}
xref: Orphanet:431166 {source="MONDO:equivalentTo"}
xref: UMLS:C4225260 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018545 {source="Orphanet:431166"} ! primary immunodeficiency with predisposition to severe viral infection
property_value: exactMatch http://identifiers.org/omim/616636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225260
property_value: exactMatch Orphanet:431166

[Term]
id: MONDO:0014716
name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457485"}
synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" RELATED [OMIM:616638]
synonym: "MINDS syndrome" EXACT [Orphanet:457485]
synonym: "SKS" RELATED [OMIM:616638]
synonym: "Smith-Kingsmore syndrome" EXACT [OMIM:616638]
synonym: "SMITH-Kingsmore syndrome; SKS" RELATED [OMIM:616638]
xref: EFO:0009050 {source="MONDO:equivalentTo"}
xref: OMIM:616638 {source="MONDO:equivalentTo", source="Orphanet:457485", source="ORDO:457485/e"}
xref: Orphanet:457485 {source="MONDO:equivalentTo"}
xref: UMLS:C4225259 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457485", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="EFO:0009050", source="Orphanet:457485"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/616638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225259
property_value: exactMatch Orphanet:457485

[Term]
id: MONDO:0014717
name: early-onset Lafora body disease
def: "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." [Orphanet:324290]
subset: ordo_disease {source="Orphanet:324290"}
synonym: "epilepsy, progressive myoclonic, 10" EXACT [OMIM:616640]
synonym: "epilepsy, progressive myoclonic, 10; EPM10" RELATED [OMIM:616640]
synonym: "epilepsy, progressive myoclonic, type 10" EXACT [MONDORULE:2, OMIM:616640]
synonym: "EPM10" EXACT [OMIM:616640]
xref: ICD10:G40.3 {source="ORDO:324290/attributed", source="ORDO:324290/ntbt", source="Orphanet:324290"}
xref: OMIM:616640 {source="ORDO:324290/e", source="MONDO:equivalentTo", source="Orphanet:324290"}
xref: Orphanet:324290 {source="MONDO:equivalentTo"}
xref: SCTID:733082001 {source="MONDO:equivalentTo"}
xref: UMLS:C4225258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4518574 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020074 {source="DC-OMIM:616640", source="OMIM:616640", source="Orphanet:324290"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/616640
property_value: exactMatch http://identifiers.org/snomedct/733082001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518574
property_value: exactMatch Orphanet:324290

[Term]
id: MONDO:0014718
name: epileptic encephalopathy, early infantile, 34
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC12A5" EXACT [MONDO:design_pattern]
synonym: "EIEE34" EXACT ABBREVIATION [MONDOLEX:0014718, OMIM:616645]
synonym: "epileptic encephalopathy, early infantile, 34" EXACT [OMIM:616645]
synonym: "epileptic encephalopathy, early infantile, 34; EIEE34" EXACT [MONDOLEX:0014718]
synonym: "epileptic encephalopathy, early infantile, type 34" EXACT [MONDORULE:2, OMIM:616645]
synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616645 {source="MONDO:equivalentTo"}
xref: UMLS:C4225257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0014734 ! epilepsy, idiopathic generalized, susceptibility to, 14
is_a: MONDO:0016021 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy
property_value: exactMatch http://identifiers.org/omim/616645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225257

[Term]
id: MONDO:0014719
name: ITPA-related encephalopathy
subset: ordo_disease {source="Orphanet:457375"}
synonym: "EIEE35" EXACT [OMIM:616647]
synonym: "epileptic encephalopathy, early infantile, 35" EXACT [OMIM:616647]
synonym: "epileptic encephalopathy, early infantile, 35; EIEE35" RELATED [OMIM:616647]
synonym: "epileptic encephalopathy, early infantile, type 35" EXACT [MONDORULE:2, OMIM:616647]
xref: ICD10:G40.4 {source="Orphanet:457375", source="ORDO:457375/attributed", source="ORDO:457375/ntbt"}
xref: OMIM:616647 {source="MONDO:equivalentTo", source="Orphanet:457375", source="ORDO:457375/e"}
xref: Orphanet:457375 {source="MONDO:equivalentTo"}
xref: UMLS:C4225256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616647", source="OMIM:616647"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016406 {source="Orphanet:457375"} ! other metabolic disease with epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019058 {source="Orphanet:457375"} ! neurometabolic disease
is_a: MONDO:0019236 {source="Orphanet:457375"} ! inborn disorder of purine metabolism
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457375"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/omim/616647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225256
property_value: exactMatch Orphanet:457375

[Term]
id: MONDO:0014720
name: autosomal dominant optic atrophy plus syndrome
def: "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness." [Orphanet:1215]
subset: ordo_disease {source="Orphanet:1215"}
synonym: "DOA+" EXACT [Orphanet:1215]
synonym: "dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy" RELATED [GARD:0005243]
synonym: "optic atrophy - deafness- polyneuropathy - myopathy" RELATED [GARD:0005243]
synonym: "optic atrophy type 8" EXACT [MONDORULE:1, OMIM:616648]
synonym: "optic atrophy-deafness-polyneuropathy-myopathy syndrome" EXACT [Orphanet:1215]
synonym: "Treft-Sanborn-Carey syndrome" RELATED [GARD:0005243]
xref: GARD:0005243 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="ORDO:1215/attributed", source="ORDO:1215/ntbt", source="Orphanet:1215"}
xref: Orphanet:1215 {source="MONDO:equivalentTo"}
xref: SCTID:715374003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1852267 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4275164 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015360 {source="Orphanet:1215"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
is_a: MONDO:0016797 {source="Orphanet:1215"} ! multiple mitochondrial DNA deletion syndrome
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:1215", source="linkedlifedata"} ! autosomal dominant optic atrophy
property_value: exactMatch http://identifiers.org/snomedct/715374003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832466
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852267
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275164
property_value: exactMatch Orphanet:1215

[Term]
id: MONDO:0014721
name: obsolete hereditary spherocytosis type 2
is_obsolete: true
replaced_by: MONDO:0000913

[Term]
id: MONDO:0014722
name: Roifman syndrome
subset: gard_rare {source="GARD:0009163"}
subset: ordo_disease {source="Orphanet:353298"}
synonym: "RFMN" RELATED [OMIM:616651]
synonym: "Roifman syndrome" EXACT [OMIM:616651]
synonym: "ROIFMAN syndrome; RFMN" RELATED [OMIM:616651]
synonym: "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" RELATED [GARD:0009163]
synonym: "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" RELATED [OMIM:616651]
synonym: "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" EXACT [Orphanet:353298]
xref: GARD:0009163 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:353298", source="ORDO:353298/attributed", source="ORDO:353298/ntbt"}
xref: MESH:C535866 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:616651 {source="ORDO:353298/e", source="Orphanet:353298", source="MONDO:equivalentTo"}
xref: Orphanet:353298 {source="MONDO:equivalentTo"}
xref: UMLS:C1846059 {source="Orphanet:353298", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0010248 ! X-linked spondyloepimetaphyseal dysplasia
is_a: MONDO:0018041 {source="Orphanet:353298"} ! other immunodeficiency syndrome with predominantly antibody defects
is_a: MONDO:0020119 {source="Orphanet:353298"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://identifiers.org/omim/300258
property_value: exactMatch http://identifiers.org/mesh/C535866
property_value: exactMatch http://identifiers.org/omim/616651
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846059
property_value: exactMatch Orphanet:353298
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome xsd:anyURI {source="GARD:0009163"}

[Term]
id: MONDO:0014723
name: PMP22-RAI1 contiguous gene duplication syndrome
subset: ordo_malformation_syndrome {source="Orphanet:477817"}
synonym: "17p11.2p12 microduplication syndrome" EXACT [Orphanet:477817]
synonym: "dup(17)(p11.2p12)" EXACT [Orphanet:477817]
synonym: "trisomy 17p11.2-p12" EXACT [Orphanet:477817]
synonym: "trisomy 17p11.2p12" EXACT [Orphanet:477817]
synonym: "Yuan-Harel-Lupski syndrome" EXACT [OMIM:616652, Orphanet:477817]
synonym: "YUAN-Harel-Lupski syndrome; YUHAL" RELATED [OMIM:616652]
synonym: "YUHAL" EXACT [OMIM:616652]
xref: OMIM:616652 {source="MONDO:equivalentTo", source="Orphanet:477817"}
xref: Orphanet:477817 {source="MONDO:equivalentTo"}
xref: UMLS:C4225255 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:477817"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015359 {source="Orphanet:477817"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0016967 {source="Orphanet:477817"} ! partial duplication of the long arm of chromosome 17
property_value: exactMatch http://identifiers.org/omim/616652
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225255
property_value: exactMatch Orphanet:477817

[Term]
id: MONDO:0014724
name: Joubert syndrome 24
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS24" EXACT [DOID:0110993, OMIM:616654]
synonym: "Joubert syndrome 24" EXACT [OMIM:616654]
synonym: "Joubert syndrome 24; JBTS24" RELATED [OMIM:616654]
synonym: "Joubert syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 24" EXACT [DOID:0110993, MONDORULE:2, OMIM:616654]
synonym: "TCTN2 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110993 {source="MONDO:equivalentTo"}
xref: OMIM:616654 {source="MONDO:equivalentTo", source="DOID:0110993"}
xref: UMLS:C4084841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:616654", source="DOID:0110993", source="MONDO:Redundant", source="OMIM:616654"} ! Joubert syndrome
property_value: exactMatch DOID:0110993
property_value: exactMatch http://identifiers.org/omim/616654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084841

[Term]
id: MONDO:0014725
name: spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
subset: ordo_disease {source="Orphanet:447997"}
synonym: "ASCT1 deficiency" EXACT [Orphanet:447997]
synonym: "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT [Orphanet:447997]
synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" RELATED [OMIM:616657]
synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly; SPATCCM" RELATED [OMIM:616657]
synonym: "SPATCCM" RELATED [OMIM:616657]
xref: ICD10:Q02 {source="Orphanet:447997", source="ORDO:447997/attributed", source="ORDO:447997/ntbt"}
xref: OMIM:616657 {source="ORDO:447997/e", source="Orphanet:447997", source="MONDO:equivalentTo"}
xref: Orphanet:447997 {source="MONDO:equivalentTo"}
xref: UMLS:C4225254 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:447997"} ! syndromic intellectual disability
is_a: MONDO:0018162 {source="Orphanet:447997"} ! neurometabolic disorder due to serine deficiency
property_value: exactMatch http://identifiers.org/omim/616657
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225254
property_value: exactMatch Orphanet:447997

[Term]
id: MONDO:0014726
name: Charcot-Marie-Tooth disease axonal type 2X
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:466775"}
synonym: "ARCMT2X" EXACT [Orphanet:466775]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT [DOID:0110176]
synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [Orphanet:466775]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [Orphanet:466775]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [Orphanet:466775]
synonym: "Charcot-Marie-Tooth disease caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [OMIM:616668]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2x" EXACT [OMIM:616668]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2X; CMT2X" RELATED [OMIM:616668]
synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [DOID:0110176]
synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [OMIM:616668]
synonym: "CMT2X" EXACT [OMIM:616668, Orphanet:466775]
synonym: "SPG11 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110176 {source="MONDO:equivalentTo"}
xref: EFO:1001983 {source="MONDO:equivalentTo"}
xref: OMIM:616668 {source="Orphanet:466775", source="MONDO:equivalentTo", source="DOID:0110176"}
xref: Orphanet:466775 {source="MONDO:equivalentTo", source="DOID:0110176"}
xref: UMLS:C4225253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110176", source="EFO:1001983"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0014726", source="Orphanet:466775"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch DOID:0110176
property_value: exactMatch http://identifiers.org/omim/616668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225253
property_value: exactMatch Orphanet:466775

[Term]
id: MONDO:0014727
name: immunodeficiency 45
synonym: "IMD45" EXACT [OMIM:616669]
synonym: "immunodeficiency 45" EXACT [OMIM:616669]
synonym: "immunodeficiency type 45" EXACT [MONDORULE:2, OMIM:616669]
xref: OMIM:616669 {source="MONDO:equivalentTo"}
xref: UMLS:C4225252 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIMPS:300755"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/616669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225252

[Term]
id: MONDO:0014728
name: combined oxidative phosphorylation defect type 27
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:477774"}
synonym: "CARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 27" EXACT [OMIM:616672]
synonym: "combined oxidative phosphorylation deficiency 27; COXPD27" RELATED [OMIM:616672]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in CARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 27" EXACT [MONDORULE:2, OMIM:616672]
synonym: "COXPD27" EXACT [OMIM:616672, Orphanet:477774]
xref: EFO:0009037 {source="MONDO:equivalentTo"}
xref: OMIM:616672 {source="Orphanet:477774", source="MONDO:equivalentTo"}
xref: Orphanet:477774 {source="MONDO:equivalentTo"}
xref: UMLS:C4225251 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616672", source="MONDO:Redundant", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015919 {source="Orphanet:477774"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0018157 {source="EFO:0009037", source="Orphanet:477774"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/616672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225251
property_value: exactMatch Orphanet:477774

[Term]
id: MONDO:0014729
name: hereditary spastic paraplegia 75
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:459056"}
synonym: "autosomal recessive spastic paraplegia 75" EXACT [DOID:0110820]
synonym: "autosomal recessive spastic paraplegia type 75" EXACT [DOID:0110820]
synonym: "hereditary spastic paraplegia caused by mutation in MAG" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 75" EXACT [DOID:0110820, MONDORULE:2]
synonym: "MAG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 75, autosomal recessive" EXACT [OMIM:616680]
synonym: "spastic paraplegia 75, autosomal recessive; SPG75" RELATED [OMIM:616680]
synonym: "SPG75" EXACT [DOID:0110820, OMIM:616680, Orphanet:459056]
xref: DOID:0110820 {source="MONDO:equivalentTo"}
xref: EFO:0009018 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="DOID:0110820", source="MONDO:subClassOf", source="ORDO:459056/attributed", source="ORDO:459056/ntbt", source="Orphanet:459056"}
xref: OMIM:616680 {source="DOID:0110820", source="MONDO:equivalentTo", source="Orphanet:459056", source="ORDO:459056/e"}
xref: Orphanet:459056 {source="DOID:0110820", source="MONDO:equivalentTo"}
xref: UMLS:C4225250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:459056"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110820
property_value: exactMatch http://identifiers.org/omim/616680
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225250
property_value: exactMatch Orphanet:459056

[Term]
id: MONDO:0014730
name: microcephaly 16, primary, autosomal recessive
synonym: "MCPH16" EXACT ABBREVIATION [MONDOLEX:0014730, OMIM:616681]
synonym: "microcephaly 16, primary, autosomal recessive" EXACT [OMIM:616681]
synonym: "microcephaly 16, primary, autosomal recessive; MCPH16" EXACT [MONDOLEX:0014730]
xref: DOID:0070289 {source="MONDO:equivalentTo"}
xref: OMIM:616681 {source="MONDO:equivalentTo"}
xref: UMLS:C4225249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:616681", source="OMIM:616681"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070289
property_value: exactMatch http://identifiers.org/omim/616681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225249

[Term]
id: MONDO:0014731
name: seizures-scoliosis-macrocephaly syndrome
def: "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." [Orphanet:466926]
subset: ordo_disease {source="Orphanet:466926"}
synonym: "seizures, scoliosis, and macrocephaly syndrome" EXACT [OMIM:616682]
synonym: "seizures, scoliosis, and macrocephaly syndrome; SSMS" RELATED [OMIM:616682]
synonym: "SSM syndrome" EXACT [Orphanet:466926]
synonym: "SSMS" BROAD [OMIM:616682]
xref: GARD:0009960 {source="MONDO:equivalentTo"}
xref: OMIM:616682 {source="MONDO:equivalentTo", source="Orphanet:466926"}
xref: Orphanet:466926 {source="MONDO:equivalentTo"}
xref: UMLS:C4225248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:466926"} ! syndromic intellectual disability
is_a: MONDO:0017742 {source="Orphanet:466926"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018287 {source="Orphanet:466926"} ! congenital disorder of glycosylation with epilepsy as a major feature
property_value: exactMatch http://identifiers.org/omim/616682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225248
property_value: exactMatch Orphanet:466926

[Term]
id: MONDO:0014732
name: hypomyelinating leukodystrophy 12
def: "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:466934"}
synonym: "HLD12" EXACT [DOID:0060796, OMIM:616683]
synonym: "hypomyelinating leukodystrophy type 12" EXACT [DOID:0060796, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in VPS11" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 12" EXACT [OMIM:616683]
synonym: "leukodystrophy, hypomyelinating, 12; HLD12" RELATED [OMIM:616683]
synonym: "leukodystrophy, hypomyelinating, type 12" EXACT [MONDORULE:2, OMIM:616683]
synonym: "VPS11 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "VPS11-related autosomal recessive hypomyelinating leukodystrophy" RELATED [Orphanet:466934]
synonym: "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:466934]
xref: DOID:0060796 {source="MONDO:equivalentTo"}
xref: OMIM:616683 {source="DOID:0060796", source="MONDO:equivalentTo", source="Orphanet:466934"}
xref: Orphanet:466934 {source="MONDO:equivalentTo"}
xref: UMLS:C4225247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:466934"} ! syndromic intellectual disability
is_a: MONDO:0019046 {source="DOID:0060796", source="DOID:0060796/inferred", source="MONDO:Redundant", source="OMIM:616683", source="Orphanet:466934"} ! leukodystrophy
property_value: exactMatch DOID:0060796
property_value: exactMatch http://identifiers.org/omim/616683
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225247
property_value: exactMatch Orphanet:466934

[Term]
id: MONDO:0014733
name: Charcot-Marie-Tooth disease type 4K
def: "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." [Orphanet:391351]
subset: ordo_disease {source="Orphanet:391351"}
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K" EXACT [DOID:0110187]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K" EXACT [DOID:0110187]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4K" EXACT [Orphanet:391351]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684]
synonym: "Charcot-Marie-Tooth disease, type 4k" EXACT [OMIM:616684]
synonym: "Charcot-Marie-Tooth disease, type 4K; CMT4K" RELATED [OMIM:616684]
synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684]
synonym: "CMT4K" EXACT [DOID:0110187, OMIM:616684, Orphanet:391351]
synonym: "SURF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187]
synonym: "SURF1-related CMT4" EXACT [DOID:0110187, Orphanet:391351]
synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [DOID:0110187, Orphanet:391351]
xref: DOID:0110187 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:391351/attributed", source="ORDO:391351/ntbt", source="Orphanet:391351", source="DOID:0110187"}
xref: OMIM:616684 {source="ORDO:391351/e", source="MONDO:equivalentTo", source="Orphanet:391351", source="DOID:0110187"}
xref: Orphanet:391351 {source="MONDO:equivalentTo", source="DOID:0110187"}
xref: SCTID:765047006 {source="MONDO:equivalentTo"}
xref: UMLS:C4225246 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016578 {source="Orphanet:391351"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0018995 {source="DOID:0110187", source="MONDO:Redundant", source="Orphanet:391351"} ! Charcot-Marie-Tooth disease type 4
property_value: exactMatch DOID:0110187
property_value: exactMatch http://identifiers.org/omim/616684
property_value: exactMatch http://identifiers.org/snomedct/765047006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225246
property_value: exactMatch Orphanet:391351

[Term]
id: MONDO:0014734
name: epilepsy, idiopathic generalized, susceptibility to, 14
subset: predisposition
synonym: "EIG14" EXACT ABBREVIATION [MONDOLEX:0014734, OMIM:616685]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 14" EXACT [OMIM:616685]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 14; EIG14" EXACT [MONDOLEX:0014734]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [MONDORULE:2, OMIM:616685]
synonym: "susceptibility to idiopathic generalized epilepsy 14" RELATED [OMIM:616685]
xref: OMIM:616685 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 ! epilepsy, idiopathic generalized
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225245
property_value: exactMatch http://identifiers.org/omim/616685

[Term]
id: MONDO:0014735
name: Charcot-Marie-Tooth disease type 2Y
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:435387"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [DOID:0110168]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [DOID:0110168]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Y" RELATED [Orphanet:435387]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" RELATED [OMIM:616687]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2y" EXACT [OMIM:616687]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y; CMT2Y" RELATED [OMIM:616687]
synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [DOID:0110168]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" RELATED [OMIM:616687]
synonym: "CMT2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387]
synonym: "CMT2Y" EXACT [DOID:0110168, OMIM:616687]
synonym: "VCP Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110168 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="DOID:0110168", source="ORDO:435387/attributed", source="ORDO:435387/ntbt", source="Orphanet:435387"}
xref: OMIM:616687 {source="MONDO:equivalentTo", source="ORDO:435387/e", source="DOID:0110168", source="Orphanet:435387"}
xref: Orphanet:435387 {source="MONDO:equivalentTo", source="DOID:0110168"}
xref: UMLS:C4225244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110168", source="MONDO:Redundant", source="Orphanet:435387"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110168
property_value: exactMatch http://identifiers.org/omim/616687
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225244
property_value: exactMatch Orphanet:435387

[Term]
id: MONDO:0014736
name: Charcot-Marie-Tooth disease axonal type 2Z
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:466768"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT [DOID:0110181]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation" EXACT [Orphanet:466768]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Z" RELATED [Orphanet:466768]
synonym: "Charcot-Marie-Tooth disease caused by mutation in MORC2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" RELATED [OMIM:616688]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2z" EXACT [OMIM:616688]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z; CMT2Z" RELATED [OMIM:616688]
synonym: "Charcot-Marie-Tooth neuropathy type 2Z" EXACT [DOID:0110181]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" RELATED [OMIM:616688]
synonym: "CMT2Z" EXACT [DOID:0110181, OMIM:616688, Orphanet:466768]
synonym: "MORC2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110181 {source="MONDO:equivalentTo"}
xref: OMIM:616688 {source="DOID:0110181", source="MONDO:equivalentTo", source="Orphanet:466768"}
xref: Orphanet:466768 {source="DOID:0110181", source="MONDO:equivalentTo"}
xref: UMLS:C4225243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110181", source="Orphanet:466768"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110181
property_value: exactMatch http://identifiers.org/omim/616688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225243
property_value: exactMatch Orphanet:466768

[Term]
id: MONDO:0014737
name: dehydrated hereditary stomatocytosis 2
def: "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Dehydrated hereditary stomatocytosis 2" EXACT [OMIM:616689]
synonym: "dehydrated hereditary stomatocytosis 2; DHS2" EXACT [MONDOLEX:0014737]
synonym: "dehydrated hereditary stomatocytosis caused by mutation in KCNN4" EXACT [MONDO:design_pattern]
synonym: "Dehydrated hereditary stomatocytosis type 2" EXACT [MONDORULE:1, OMIM:616689]
synonym: "Desiccytosis Gardos" RELATED [OMIM:616689]
synonym: "DHS2" EXACT ABBREVIATION [MONDOLEX:0014737]
synonym: "DHS2" RELATED [OMIM:616689]
synonym: "KCNN4 dehydrated hereditary stomatocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xerocytosis Gardos" RELATED [OMIM:616689]
xref: OMIM:616689 {source="MONDO:equivalentTo"}
xref: UMLS:C4225242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017910 {source="DC-OMIM:616689", source="MONDO:Redundant", source="MONDOLEX:0014737"} ! dehydrated hereditary stomatocytosis
property_value: exactMatch http://identifiers.org/omim/616689
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225242

[Term]
id: MONDO:0014738
name: autosomal dominant nonsyndromic deafness 69
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 69" EXACT [DOID:0110590]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KITLG" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 69" EXACT [DOID:0110590, MONDORULE:2]
synonym: "DCUA" EXACT [DOID:0110590, OMIM:616697]
synonym: "deafness, autosomal dominant 69" RELATED [OMIM:616697]
synonym: "deafness, autosomal dominant 69; DFNA69" RELATED [OMIM:616697]
synonym: "deafness, congenital, unilateral or asymmetric" EXACT [OMIM:616697]
synonym: "DFNA69" EXACT [DOID:0110590]
synonym: "KITLG autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "unilateral or asymmetric congenital deafness" EXACT [DOID:0110590]
xref: DOID:0110590 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110590"}
xref: OMIM:616697 {source="DOID:0110590", source="MONDO:equivalentTo"}
xref: UMLS:C4225241 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DOID:0110590", source="MONDO:Redundant", source="OMIM:616697"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110590
property_value: exactMatch http://identifiers.org/omim/616697
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225241

[Term]
id: MONDO:0014739
name: autosomal recessive nonsyndromic deafness 97
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 97" EXACT [DOID:0110539]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MET" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 97" EXACT [DOID:0110539, MONDORULE:2]
synonym: "deafness, autosomal recessive 97" EXACT [OMIM:616705]
synonym: "deafness, autosomal recessive 97; DFNB97" RELATED [OMIM:616705]
synonym: "deafness, autosomal recessive type 97" EXACT [MONDORULE:2, OMIM:616705]
synonym: "DFNB97" EXACT [DOID:0110539, OMIM:616705]
synonym: "MET autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110539 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110539"}
xref: OMIM:616705 {source="MONDO:equivalentTo", source="DOID:0110539"}
xref: UMLS:C4084709 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:616705", source="DOID:0110539", source="MONDO:Redundant", source="OMIM:616705"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110539
property_value: exactMatch http://identifiers.org/omim/616705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084709

[Term]
id: MONDO:0014740
name: autosomal dominant nonsyndromic deafness 68
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 68" EXACT [DOID:0110589]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 68" EXACT [DOID:0110589, MONDORULE:2]
synonym: "deafness, autosomal dominant 68" EXACT [OMIM:616707]
synonym: "deafness, autosomal dominant 68; DFNA68" RELATED [OMIM:616707]
synonym: "deafness, autosomal dominant type 68" EXACT [MONDORULE:2, OMIM:616707]
synonym: "DFNA68" EXACT [DOID:0110589, OMIM:616707]
synonym: "HOMER2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110589 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110589"}
xref: OMIM:616707 {source="DOID:0110589", source="MONDO:equivalentTo"}
xref: UMLS:C4225240 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616707", source="DOID:0110589", source="MONDO:Redundant", source="OMIM:616707"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110589
property_value: exactMatch http://identifiers.org/omim/616707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225240

[Term]
id: MONDO:0014741
name: facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
subset: ordo_clinical_subtype {source="Orphanet:466950"}
synonym: "chromosome 10P12-p11 deletion syndrome" RELATED [OMIM:616708]
synonym: "Desanto-Shinawi syndrome" EXACT [OMIM:616708]
synonym: "DESANTO-SHINAWI syndrome; DESSH" RELATED [OMIM:616708]
synonym: "DESSH" EXACT [OMIM:616708]
synonym: "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED [OMIM:616708]
xref: OMIM:616708 {source="Orphanet:466950", source="MONDO:equivalentTo"}
xref: Orphanet:466950 {source="MONDO:equivalentTo"}
xref: UMLS:C4225239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN242167 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018760 {source="Orphanet:466950"} ! WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
property_value: exactMatch http://identifiers.org/omim/616708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242167
property_value: exactMatch Orphanet:466950

[Term]
id: MONDO:0014742
name: Parkinson disease 22, autosomal dominant
def: "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHCHD2 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK22" EXACT ABBREVIATION [MONDOLEX:0014742, OMIM:616710]
synonym: "Parkinson disease 22, autosomal dominant" EXACT [OMIM:616710]
synonym: "Parkinson disease 22, autosomal dominant; PARK22" EXACT [MONDOLEX:0014742]
synonym: "Parkinson disease caused by mutation in CHCHD2" EXACT [MONDO:design_pattern]
xref: OMIM:616710 {source="MONDO:equivalentTo"}
xref: UMLS:C4225238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005180 {source="DC-OMIM:616710", source="MONDO:Redundant", source="OMIM:616710"} ! Parkinson disease
property_value: exactMatch http://identifiers.org/omim/616710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225238

[Term]
id: MONDO:0014743
name: rhizomelic chondrodysplasia punctata type 5
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_malformation_syndrome {source="Orphanet:468717"}
synonym: "PEX5 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCDP5" EXACT [OMIM:616716]
synonym: "Rcdp5" EXACT [DOID:0110854]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX5" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata, type 5" EXACT [OMIM:616716]
synonym: "rhizomelic chondrodysplasia punctata, type 5; RCDP5" RELATED [OMIM:616716]
xref: DOID:0110854 {source="MONDO:equivalentTo"}
xref: OMIM:616716 {source="DOID:0110854", source="MONDO:equivalentTo", source="Orphanet:468717"}
xref: Orphanet:468717 {source="DOID:0110854", source="MONDO:equivalentTo"}
xref: UMLS:C4225237 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015776 {source="DC-OMIM:616716", source="DOID:0110854", source="MONDO:Redundant", source="MONDOLEX:0014743", source="OMIM:616716", source="Orphanet:468717"} ! rhizomelic chondrodysplasia punctata
property_value: exactMatch DOID:0110854
property_value: exactMatch http://identifiers.org/omim/616716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225237
property_value: exactMatch Orphanet:468717

[Term]
id: MONDO:0014744
name: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." [DOID:0111155]
subset: ordo_disease {source="Orphanet:466794"}
synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia 21" RELATED [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia type 21" EXACT [Orphanet:466794]
synonym: "SCAR21" EXACT [DOID:0111155, OMIM:616719, Orphanet:466794]
synonym: "spinocerebellar ataxia, autosomal recessive 21" EXACT [OMIM:616719]
synonym: "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" RELATED [OMIM:616719]
synonym: "spinocerebellar ataxia, autosomal recessive 21; SCAR21" RELATED [OMIM:616719]
synonym: "spinocerebellar ataxia, autosomal recessive type 21" EXACT [MONDORULE:2, OMIM:616719]
xref: DOID:0111155 {source="MONDO:equivalentTo"}
xref: OMIM:616719 {source="Orphanet:466794", source="MONDO:equivalentTo", source="DOID:0111155"}
xref: Orphanet:466794 {source="MONDO:equivalentTo", source="DOID:0111155"}
xref: UMLS:C4225236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:466794"} ! genetic parenchymatous liver disease
is_a: MONDO:0019601 {source="Orphanet:466794"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
is_a: MONDO:0020047 {source="Orphanet:466794"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch DOID:0111155
property_value: exactMatch http://identifiers.org/omim/616719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225236
property_value: exactMatch Orphanet:466794

[Term]
id: MONDO:0014745
name: congenital myasthenic syndrome 19
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS19" EXACT [DOID:0110673, OMIM:616720]
synonym: "COL13A1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital myasthenic syndrome caused by mutation in COL13A1" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 19" EXACT [DOID:0110673, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 19" EXACT [OMIM:616720]
synonym: "myasthenic syndrome, congenital, 19; CMS19" RELATED [OMIM:616720]
synonym: "myasthenic syndrome, congenital, type 19" EXACT [MONDORULE:2, OMIM:616720]
xref: DOID:0110673 {source="MONDO:equivalentTo"}
xref: OMIM:616720 {source="MONDO:equivalentTo", source="DOID:0110673"}
xref: UMLS:C4225235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110673
property_value: exactMatch http://identifiers.org/omim/616720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225235

[Term]
id: MONDO:0014746
name: SLC39A8-CDG
subset: ordo_disease {source="Orphanet:468699"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [Orphanet:468699]
synonym: "CDG IIn" RELATED [OMIM:616721]
synonym: "CDG syndrome type IIn" EXACT [Orphanet:468699]
synonym: "CDG-IIn" EXACT [Orphanet:468699]
synonym: "CDG2N" EXACT [OMIM:616721, Orphanet:468699]
synonym: "congenital disorder of glycosylation type 2n" EXACT [Orphanet:468699]
synonym: "congenital disorder of glycosylation type IIn" EXACT [Orphanet:468699]
synonym: "congenital disorder of glycosylation, type IIn" EXACT [OMIM:616721]
synonym: "congenital disorder of glycosylation, type IIn; CDG2N" RELATED [OMIM:616721]
synonym: "SLC39A8 deficiency" EXACT [Orphanet:468699]
xref: DOID:0070266 {source="MONDO:equivalentTo"}
xref: OMIM:616721 {source="Orphanet:468699", source="MONDO:equivalentTo"}
xref: Orphanet:468699 {source="MONDO:equivalentTo"}
xref: UMLS:C4225234 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN234734 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005501 {source="DC-OMIM:616721", source="MONDOLEX:0014746", source="OMIM:616721"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015159 {source="Orphanet:468699"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015919 {source="Orphanet:468699"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0017118 {source="Orphanet:468699"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0017740 {source="Orphanet:468699"} ! disorder of protein N-glycosylation
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0070266
property_value: exactMatch http://identifiers.org/omim/616721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN234734
property_value: exactMatch Orphanet:468699

[Term]
id: MONDO:0014747
name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
subset: ordo_disease
synonym: "RDICC" RELATED [OMIM:616722]
synonym: "retinal dystrophy and iris coloboma with or without congenital cataract" RELATED [OMIM:616722]
synonym: "retinal dystrophy and iris coloboma with or without congenital cataract; RDICC" RELATED [OMIM:616722]
xref: OMIM:616722 {source="MONDO:equivalentTo", source="Orphanet:488197"}
xref: Orphanet:488197 {source="MONDO:equivalentTo"}
xref: UMLS:C4225233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0020149 {source="Orphanet:488197"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0020225 {source="Orphanet:488197"} ! syndromic cataract
is_a: MONDO:0020240 {source="Orphanet:488197"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/616722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225233
property_value: exactMatch Orphanet:488197

[Term]
id: MONDO:0014748
name: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457395"}
synonym: "SEMDFA" EXACT [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, faden-Alkuraya type" EXACT [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type; SEMDFA" RELATED [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" RELATED [OMIM:616723]
xref: OMIM:616723 {source="MONDO:equivalentTo", source="Orphanet:457395", source="ORDO:457395/e"}
xref: Orphanet:457395 {source="MONDO:equivalentTo"}
xref: UMLS:C4225232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457395", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:457395"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:457395"} ! malformation syndrome with short stature
is_a: MONDO:0016761 {source="Orphanet:457395"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/omim/616723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225232
property_value: exactMatch Orphanet:457395

[Term]
id: MONDO:0014749
name: tooth agenesis, selective, 7
def: "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LRP6 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG7" EXACT ABBREVIATION [MONDOLEX:0014749, OMIM:616724]
synonym: "tooth agenesis caused by mutation in LRP6" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 7" EXACT [OMIM:616724]
synonym: "tooth agenesis, selective, 7; STHAG7" EXACT [MONDOLEX:0014749]
synonym: "tooth agenesis, selective, type 7" EXACT [MONDORULE:1, OMIM:616724]
xref: OMIM:616724 {source="MONDO:equivalentTo"}
xref: UMLS:C4225231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005486 {source="DC-OMIM:616724", source="MONDO:Redundant", source="OMIM:616724"} ! tooth agenesis
property_value: exactMatch http://identifiers.org/omim/616724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225231

[Term]
id: MONDO:0014750
name: primary ciliary dyskinesia 33
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD33" EXACT [DOID:0110619, OMIM:616726]
synonym: "ciliary dyskinesia, primary, 33" EXACT [OMIM:616726]
synonym: "ciliary dyskinesia, primary, 33, without situs inversus" RELATED [OMIM:616726]
synonym: "ciliary dyskinesia, primary, 33; CILD33" RELATED [OMIM:616726]
synonym: "ciliary dyskinesia, primary, type 33" EXACT [MONDORULE:2, OMIM:616726]
synonym: "GAS8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 33 without situs inversus" EXACT [DOID:0110619]
synonym: "primary ciliary dyskinesia caused by mutation in GAS8" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 33" EXACT [DOID:0110619, MONDORULE:2]
xref: DOID:0110619 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="DOID:0110619"}
xref: OMIM:616726 {source="MONDO:equivalentTo", source="DOID:0110619"}
xref: UMLS:C4225230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:616726", source="DOID:0110619", source="MONDO:Redundant", source="MONDOLEX:0014750", source="OMIM:616726"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110619
property_value: exactMatch http://identifiers.org/omim/616726
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225230

[Term]
id: MONDO:0014751
name: palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
def: "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." [Orphanet:477993]
subset: ordo_malformation_syndrome {source="Orphanet:477993"}
synonym: "cleft palate, psychomotor retardation, and distinctive Facial features" RELATED [OMIM:616728]
synonym: "cleft palate, psychomotor retardation, and distinctive FACIAL features; CPRF" RELATED [OMIM:616728]
synonym: "CPRF" RELATED [OMIM:616728]
synonym: "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:477993]
xref: OMIM:616728 {source="Orphanet:477993", source="MONDO:equivalentTo"}
xref: Orphanet:477993 {source="MONDO:equivalentTo"}
xref: UMLS:C4225229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477993", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:477993"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:477993"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/omim/616728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225229
property_value: exactMatch Orphanet:477993

[Term]
id: MONDO:0014752
name: nephrotic syndrome, type 11
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial nephrotic syndrome caused by mutation in NUP107" EXACT []
synonym: "familial nephrotic syndrome caused by mutation in Nup107" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 11" EXACT [OMIM:616730]
synonym: "nephrotic syndrome, type 11; NPHS11" EXACT [MONDOLEX:0014752]
synonym: "NPHS11" EXACT ABBREVIATION [MONDOLEX:0014752, OMIM:616730]
synonym: "NUP107 familial nephrotic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Nup107 familial nephrotic syndrome" EXACT [MONDO:design_pattern]
xref: OMIM:616730 {source="MONDO:equivalentTo"}
xref: UMLS:C4225228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/616730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225228

[Term]
id: MONDO:0014753
name: autosomal recessive optic atrophy
comment: ORDO treats as isolated but includes syndromic forms as OMIM xrefs
subset: ordo_disease {source="Orphanet:98676"}
synonym: "autosomal recessive isolated optic atrophy" NARROW [Orphanet:98676]
synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [Orphanet:98676]
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="Orphanet:98676", source="ORDO:98676/attributed", source="ORDO:98676/ntbt"}
xref: Orphanet:98676 {source="MONDO:equivalentTo"}
xref: UMLS:CN229293 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0020249 {source="Orphanet:98676", source="Orphanet:98676/inferred"} ! hereditary optic neuropathy
is_a: MONDO:0043878 ! hereditary optic atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225227
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229293
property_value: exactMatch Orphanet:98676

[Term]
id: MONDO:0014754
name: primary coenzyme Q10 deficiency 8
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "coenzyme Q10 deficiency caused by mutation in COQ7" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 8" EXACT [OMIM:616733]
synonym: "coenzyme Q10 deficiency, primary, type 8" EXACT [MONDORULE:1, OMIM:616733]
synonym: "COQ10D8" EXACT [OMIM:616733]
synonym: "COQ7 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary coenzyme Q10 deficiency 8" EXACT [DOID:0070245]
xref: DOID:0070245 {source="MONDO:equivalentTo"}
xref: OMIM:616733 {source="MONDO:equivalentTo"}
xref: UMLS:C4225226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018151 {source="DC-OMIM:616733", source="MONDO:Redundant", source="OMIM:616733"} ! coenzyme Q10 deficiency
property_value: exactMatch DOID:0070245
property_value: exactMatch http://identifiers.org/omim/616733
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225226

[Term]
id: MONDO:0014755
name: skin creases, congenital symmetric circumferential, 2
synonym: "CSCSC2" EXACT ABBREVIATION [MONDOLEX:0014755, OMIM:616734]
synonym: "MAPRE2 multiple benign circumferential skin creases on limbs" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2" EXACT [MONDO:design_pattern]
synonym: "skin creases, congenital symmetric circumferential, 2" EXACT [OMIM:616734]
synonym: "skin creases, congenital symmetric circumferential, 2; CSCSC2" EXACT [MONDOLEX:0014755]
synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MONDORULE:1, OMIM:616734]
xref: OMIM:616734 {source="MONDO:equivalentTo"}
is_a: MONDO:0007990 {source="MONDO:Redundant", source="ORDO:2505/btnt"} ! multiple benign circumferential skin creases on limbs
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225225
property_value: exactMatch http://identifiers.org/omim/616734

[Term]
id: MONDO:0014756
name: tremor, hereditary essential, 5
def: "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in TENM4" EXACT [MONDO:design_pattern]
synonym: "ETM5" EXACT ABBREVIATION [MONDOLEX:0014756]
synonym: "ETM5" RELATED [OMIM:616736]
synonym: "TENM4 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tremor, hereditary essential, 5" EXACT [OMIM:616736]
synonym: "tremor, hereditary essential, 5; ETM5" EXACT [MONDOLEX:0014756]
synonym: "tremor, hereditary essential, type 5" EXACT [MONDORULE:1, OMIM:616736]
xref: OMIM:616736 {source="MONDO:equivalentTo"}
xref: UMLS:C4225223 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003233 {source="DC-OMIM:616736", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/616736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225223

[Term]
id: MONDO:0014757
name: macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
subset: ordo_malformation_syndrome
synonym: "macrothrombocytopenia and mental retardation syndrome" RELATED [OMIM:616737]
synonym: "Takenouchi-Kosaki syndrome" EXACT [OMIM:616737, Orphanet:487796]
synonym: "TAKENOUCHI-Kosaki syndrome; TKS" RELATED [OMIM:616737]
synonym: "TKS" RELATED [OMIM:616737]
xref: OMIM:616737 {source="Orphanet:487796", source="MONDO:equivalentTo"}
xref: Orphanet:487796 {source="MONDO:equivalentTo"}
xref: UMLS:C4225222 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487796", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0015159 {source="Orphanet:487796"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018795 {source="Orphanet:487796"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:487796"} ! syndromic lymphedema
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/omim/616737
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225222
property_value: exactMatch Orphanet:487796

[Term]
id: MONDO:0014758
name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2
def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM" EXACT [MONDO:design_pattern]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" EXACT [OMIM:616738]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2" EXACT [MONDOLEX:0014758]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:616738]
synonym: "RUSAT2" EXACT ABBREVIATION [MONDOLEX:0014758, OMIM:616738]
xref: OMIM:616738 {source="MONDO:equivalentTo"}
xref: UMLS:C4225221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:616738", source="ORDO:71289/btnt"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
property_value: exactMatch http://identifiers.org/omim/616738
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225221

[Term]
id: MONDO:0014759
name: intellectual disability, autosomal recessive 51
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT" EXACT [MONDO:design_pattern]
synonym: "HNMT autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 51; MRT51" EXACT [MONDOLEX:0014759]
synonym: "mental retardation, autosomal recessive 51" EXACT [OMIM:616739]
synonym: "mental retardation, autosomal recessive 51; MRT51" RELATED [OMIM:616739]
synonym: "mental retardation, autosomal recessive type 51" EXACT [MONDORULE:2, OMIM:616739]
synonym: "MRT51" EXACT ABBREVIATION [MONDOLEX:0014759, OMIM:616739]
xref: OMIM:616739 {source="MONDO:equivalentTo"}
xref: UMLS:C4225220 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:616739", source="MONDO:Redundant", source="OMIM:616739"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616739
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225220

[Term]
id: MONDO:0014760
name: TFRC-related combined immunodeficiency
subset: ordo_disease {source="Orphanet:476113"}
synonym: "Cid due to TFRC deficiency" EXACT [Orphanet:476113]
synonym: "combined immunodeficiency due to TFRC deficiency" RELATED [Orphanet:476113]
synonym: "IMD46" EXACT [OMIM:616740]
synonym: "immunodeficiency 46" EXACT [OMIM:616740]
synonym: "immunodeficiency 46; IMD46" RELATED [OMIM:616740]
synonym: "immunodeficiency type 46" EXACT [MONDORULE:2, OMIM:616740]
xref: OMIM:616740 {source="Orphanet:476113", source="MONDO:equivalentTo"}
xref: Orphanet:476113 {source="MONDO:equivalentTo"}
xref: UMLS:C4225219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="Orphanet:476113"} ! non-severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/616740
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225219
property_value: exactMatch Orphanet:476113

[Term]
id: MONDO:0014761
name: hereditary pediatric Behçet-like disease
subset: ordo_disease {source="Orphanet:476102"}
synonym: "AISBL" EXACT [OMIM:616744]
synonym: "autoinflammatory syndrome, familial, Behcet-like" EXACT [OMIM:616744]
synonym: "autoinflammatory syndrome, familial, Behcet-like; AISBL" RELATED [OMIM:616744]
synonym: "Behçet-like disease due to HA20" EXACT [Orphanet:476102]
synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet:476102]
synonym: "hereditary pediatric Behçet-like disease" RELATED [Orphanet:476102]
xref: OMIM:616744 {source="Orphanet:476102", source="MONDO:equivalentTo"}
xref: Orphanet:476102 {source="MONDO:equivalentTo"}
xref: UMLS:C4225218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:476102"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0017957 {source="Orphanet:476102"} ! unclassified autoinflammatory syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/616744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225218
property_value: exactMatch Orphanet:476102

[Term]
id: MONDO:0014762
name: heterotaxy, visceral, 7, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "heterotaxy, visceral, 7, autosomal" EXACT [OMIM:616749]
synonym: "heterotaxy, visceral, 7, autosomal; HTX7" EXACT [MONDOLEX:0014762]
synonym: "HTX7" EXACT ABBREVIATION [MONDOLEX:0014762]
synonym: "HTX7" RELATED [OMIM:616749]
synonym: "MMP21 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "visceral heterotaxy caused by mutation in MMP21" EXACT [MONDO:design_pattern]
xref: OMIM:616749 {source="MONDO:equivalentTo"}
xref: UMLS:C4225217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:616749", source="MONDO:Redundant", source="MONDOLEX:0014762", source="OMIM:616749"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/omim/616749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225217

[Term]
id: MONDO:0014763
name: Bombay phenotype
synonym: "para-Bombay phenotype" RELATED [OMIM:616754]
synonym: "Reunion variant" RELATED [OMIM:616754]
xref: OMIM:616754 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859408
property_value: exactMatch http://identifiers.org/omim/616754

[Term]
id: MONDO:0014764
name: spastic paraplegia-severe developmental delay-epilepsy syndrome
def: "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." [Orphanet:464282]
subset: ordo_disease {source="Orphanet:464282"}
synonym: "spastic paraplegia and psychomotor retardation with or without seizures" RELATED [OMIM:616756]
synonym: "spastic paraplegia and psychomotor retardation with or without seizures; SPPRS" RELATED [OMIM:616756]
synonym: "spastic paraplegia-psychomotor retardation-seizures syndrome" EXACT [Orphanet:464282]
synonym: "SPPRS" RELATED [OMIM:616756]
synonym: "SPPRS syndrome" EXACT [Orphanet:464282]
xref: OMIM:616756 {source="MONDO:equivalentTo", source="ORDO:464282/e", source="Orphanet:464282"}
xref: Orphanet:464282 {source="MONDO:equivalentTo"}
xref: UMLS:C4225215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464282", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015089 {source="Orphanet:464282"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015159 {source="Orphanet:464282"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:464282"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225215
property_value: exactMatch Orphanet:464282

[Term]
id: MONDO:0014765
name: woolly hair, autosomal recessive 3
def: "Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARWH3" EXACT [OMIM:616760]
synonym: "KRT25 woolly hair (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "woolly hair (disease) caused by mutation in KRT25" EXACT []
synonym: "woolly hair, autosomal recessive 3" EXACT [OMIM:616760]
synonym: "woolly hair, autosomal recessive 3, with hypotrichosis" RELATED [OMIM:616760]
synonym: "woolly hair, autosomal recessive 3; ARWH3" RELATED [OMIM:616760]
synonym: "woolly hair, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:616760]
xref: OMIM:616760 {source="MONDO:equivalentTo"}
xref: UMLS:C4225214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008686 {source="MONDO:Redundant", source="ORDO:170/btnt"} ! isolated familial woolly hair disorder
property_value: exactMatch http://identifiers.org/omim/616760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225214

[Term]
id: MONDO:0014766
name: leukodystrophy and acquired microcephaly with or without dystonia;
synonym: "LDAMD" RELATED [OMIM:616763]
synonym: "leukodystrophy and acquired microcephaly with or without dystonia" RELATED [OMIM:616763]
synonym: "leukodystrophy and acquired microcephaly with or without dystonia; LDAMD" RELATED [OMIM:616763]
xref: OMIM:616763 {source="MONDO:equivalentTo"}
xref: UMLS:C4225213 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225213

[Term]
id: MONDO:0014767
name: Seckel syndrome 9
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SCKL9" EXACT [DOID:0070005, OMIM:616777]
synonym: "Seckel syndrome 9" EXACT [OMIM:616777]
synonym: "Seckel syndrome 9; SCKL9" RELATED [OMIM:616777]
synonym: "Seckel syndrome caused by mutation in TRAIP" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 9" EXACT [MONDORULE:1, OMIM:616777]
synonym: "TRAIP Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070005 {source="MONDO:equivalentTo"}
xref: OMIM:616777 {source="DOID:0070005", source="MONDO:equivalentTo"}
xref: UMLS:C4225212 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="DC-OMIM:616777", source="DOID:0070005", source="MONDO:Redundant", source="MONDOLEX:0014767", source="OMIM:616777"} ! Seckel syndrome
property_value: exactMatch DOID:0070005
property_value: exactMatch http://identifiers.org/omim/616777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225212

[Term]
id: MONDO:0014768
name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
def: "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [DOID:0111036]
synonym: "CADASIL 2" EXACT [OMIM:616779]
synonym: "CADASIL caused by mutation in HTRA1" EXACT [MONDO:design_pattern]
synonym: "CADASIL type 2" EXACT [DOID:0111036, MONDORULE:1]
synonym: "CADASIL2" EXACT [OMIM:616779]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" EXACT [OMIM:616779]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2; CADASIL2" RELATED [OMIM:616779]
synonym: "HTRA1 CADASIL" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111036 {source="MONDO:equivalentTo"}
xref: ICD10:F01.1 {source="DOID:0111036"}
xref: OMIM:616779 {source="MONDO:equivalentTo", source="DOID:0111036"}
xref: UMLS:C4225211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007432 {source="DOID:0111036", source="MONDO:Redundant", source="MONDOLEX:0014768", source="OMIM:616779"} ! CADASIL
property_value: exactMatch DOID:0111036
property_value: exactMatch http://identifiers.org/omim/616779
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225211

[Term]
id: MONDO:0014769
name: inherited oocyte maturation defect
subset: prototype_pattern
synonym: "oocyte maturation defect" EXACT [OMIM:616780]
synonym: "OOMD" RELATED [OMIM:616780]
xref: OMIMPS:615774 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:CN238505 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017143 {source="MONDO:cjm"} ! genetic infertility
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN238505

[Term]
id: MONDO:0014770
name: Joubert syndrome 25
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEP104 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS25" EXACT [DOID:0110994, OMIM:616781]
synonym: "Joubert syndrome 25" EXACT [OMIM:616781]
synonym: "Joubert syndrome 25; JBTS25" RELATED [OMIM:616781]
synonym: "Joubert syndrome caused by mutation in CEP104" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 25" EXACT [DOID:0110994, MONDORULE:2, OMIM:616781]
xref: DOID:0110994 {source="MONDO:equivalentTo"}
xref: OMIM:616781 {source="MONDO:equivalentTo", source="DOID:0110994"}
xref: UMLS:C4084842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:616781", source="DOID:0110994", source="MONDO:Redundant", source="OMIM:616781"} ! Joubert syndrome
property_value: exactMatch DOID:0110994
property_value: exactMatch http://identifiers.org/omim/616781
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084842

[Term]
id: MONDO:0014771
name: Joubert syndrome 26
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS26" EXACT [DOID:0110995, OMIM:616784]
synonym: "Joubert syndrome 26" EXACT [OMIM:616784]
synonym: "Joubert syndrome 26; JBTS26" RELATED [OMIM:616784]
synonym: "Joubert syndrome caused by mutation in KIAA0556" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 26" EXACT [DOID:0110995, MONDORULE:2, OMIM:616784]
synonym: "KIAA0556 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110995 {source="MONDO:equivalentTo"}
xref: OMIM:616784 {source="DOID:0110995", source="MONDO:equivalentTo"}
xref: UMLS:C4084843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:616784", source="DOID:0110995", source="MONDO:Redundant", source="OMIM:616784"} ! Joubert syndrome
property_value: exactMatch DOID:0110995
property_value: exactMatch http://identifiers.org/omim/616784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4084843

[Term]
id: MONDO:0014772
name: orofacial cleft 15
def: "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." [MONDO:design_pattern]
synonym: "cleft lip/palate caused by mutation in DLX4" EXACT [MONDO:design_pattern]
synonym: "DLX4 cleft lip/palate" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC15" EXACT [OMIM:616788]
synonym: "orofacial cleft 15" EXACT [OMIM:616788]
synonym: "orofacial cleft type 15" EXACT [MONDORULE:2, OMIM:616788]
xref: OMIM:616788 {source="MONDO:equivalentTo"}
is_a: MONDO:0016044 {source="MONDO:Redundant", source="ORDO:199306/btnt"} ! cleft lip/palate
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225209
property_value: exactMatch http://identifiers.org/omim/616788

[Term]
id: MONDO:0014773
name: cardiac anomalies - developmental delay - facial dysmorphism syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:369891"}
synonym: "cardiac anomalies - developmental delay - facial dysmorphism syndrome" EXACT [GARD:0012999]
synonym: "intellectual disability and distinctive facial features with or without cardiac defects" RELATED [GARD:0012999]
synonym: "MED13L haploinsufficiency syndrome" RELATED [GARD:0012999]
synonym: "MED13L syndrome" RELATED [GARD:0012999]
synonym: "mental retardation and distinctive Facial features with or without Cardiac defects" EXACT [OMIM:616789]
synonym: "mental retardation and distinctive FACIAL features with or without CARDIAC defects; MRFACD" RELATED [OMIM:616789]
synonym: "MRFACD" EXACT [OMIM:616789]
xref: GARD:0012999 {source="MONDO:equivalentTo"}
xref: HGNC:22962 {source="GARD:0012999"}
xref: ICD10:Q87.8 {source="ORDO:369891/attributed", source="ORDO:369891/ntbt", source="Orphanet:369891"}
xref: OMIM:616789 {source="MONDO:equivalentTo", source="ORDO:369891/e", source="Orphanet:369891"}
xref: Orphanet:369891 {source="MONDO:equivalentTo"}
xref: UMLS:C4225208 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369891", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:369891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015506 {source="Orphanet:369891"} ! rare syndrome with cardiac malformations
is_a: MONDO:0017131 {source="Orphanet:369891"} ! genetic cardiac anomaly
property_value: exactMatch http://identifiers.org/omim/616789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225208
property_value: exactMatch Orphanet:369891

[Term]
id: MONDO:0014774
name: neuroblastoma, susceptibility to, 7
subset: predisposition
synonym: "NBLST7" EXACT ABBREVIATION [MONDOLEX:0014774, OMIM:616792]
synonym: "neuroblastoma, susceptibility to, 7" EXACT [OMIM:616792]
synonym: "neuroblastoma, susceptibility to, 7; NBLST7" EXACT [MONDOLEX:0014774]
synonym: "neuroblastoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616792]
xref: OMIM:616792 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="DC-OMIM:616792"} ! neuroblastoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225207
property_value: exactMatch http://identifiers.org/omim/616792

[Term]
id: MONDO:0014775
name: neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." [MONDO:design_pattern]
subset: ordo_disease {source="Orphanet:466784"}
synonym: "combined oxidative phosphorylation defect type 28" EXACT [Orphanet:466784]
synonym: "combined oxidative phosphorylation deficiency 28" EXACT [OMIM:616794]
synonym: "combined oxidative phosphorylation deficiency 28; COXPD28" RELATED [OMIM:616794]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 28" EXACT [MONDORULE:2, OMIM:616794]
synonym: "COXPD28" EXACT [OMIM:616794, Orphanet:466784]
synonym: "SLC25A26 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616794 {source="Orphanet:466784", source="MONDO:equivalentTo"}
xref: Orphanet:466784 {source="MONDO:equivalentTo"}
xref: UMLS:C4225206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616794", source="MONDO:Redundant", source="OMIM:616794"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016801 {source="Orphanet:466784"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0018157 {source="Orphanet:466784"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/616794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225206
property_value: exactMatch Orphanet:466784

[Term]
id: MONDO:0014776
name: spinocerebellar ataxia type 42
subset: ordo_disease {source="Orphanet:458803"}
synonym: "SCA42" EXACT [OMIM:616795, Orphanet:458803]
synonym: "spinocerebellar ataxia 42" EXACT [OMIM:616795]
synonym: "spinocerebellar ataxia 42; SCA42" RELATED [OMIM:616795]
synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, OMIM:616795]
xref: EFO:0009059 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:458803/attributed", source="ORDO:458803/ntbt", source="Orphanet:458803"}
xref: OMIM:616795 {source="ORDO:458803/e", source="MONDO:equivalentTo", source="Orphanet:458803"}
xref: Orphanet:458803 {source="MONDO:equivalentTo"}
xref: UMLS:C4225205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III
property_value: exactMatch http://identifiers.org/omim/616795
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225205
property_value: exactMatch Orphanet:458803

[Term]
id: MONDO:0014777
name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2
def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" EXACT [OMIM:616801]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2" EXACT [MONDOLEX:0014777]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80" EXACT [MONDO:design_pattern]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" EXACT [MONDORULE:1, OMIM:616801]
synonym: "IHPRF2" EXACT ABBREVIATION [MONDOLEX:0014777, OMIM:616801]
synonym: "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616801 {source="MONDO:equivalentTo"}
xref: UMLS:C4225203 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0014176 {source="DC-OMIM:616801", source="MONDO:Redundant", source="OMIM:616801"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
property_value: exactMatch http://identifiers.org/omim/616801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225203

[Term]
id: MONDO:0014778
name: Lamb-Shaffer syndrome
subset: ordo_disease
synonym: "Lamb-Shaffer syndrome" EXACT [OMIM:616803]
synonym: "Lamb-Shaffer syndrome; LAMSHF" EXACT [MONDOLEX:0014778]
synonym: "LAMSHF" EXACT ABBREVIATION [MONDOLEX:0014778, OMIM:616803]
xref: OMIM:616803 {source="MONDO:equivalentTo"}
xref: Orphanet:530983 {source="MONDO:equivalentTo"}
xref: UMLS:C4225202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225202
property_value: exactMatch Orphanet:530983

[Term]
id: MONDO:0014779
name: Wilms tumor 6
def: "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Wilms tumor 6" EXACT [OMIM:616806]
synonym: "Wilms tumor 6; WT6" EXACT [MONDOLEX:0014779]
synonym: "Wilms tumor type 6" EXACT [MONDORULE:1, OMIM:616806]
synonym: "WT6" EXACT ABBREVIATION [MONDOLEX:0014779]
synonym: "WT6" RELATED [OMIM:616806]
xref: OMIM:616806 {source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="DC-OMIM:616806", source="MONDOLEX:0014779"} ! kidney Wilms tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3891301
property_value: exactMatch http://identifiers.org/omim/616806

[Term]
id: MONDO:0014780
name: hyperphosphatasia with intellectual disability syndrome 6
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene." [MONDO:patterns/disease_series_by_gene]
synonym: "glycosylphosphatidylinositol biosynthesis defect 12" RELATED [OMIM:616809]
synonym: "HPMRS6" EXACT ABBREVIATION [MONDOLEX:0014780, OMIM:616809]
synonym: "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6" EXACT [MONDOLEX:0014780]
synonym: "hyperphosphatasia with mental retardation syndrome 6" EXACT [OMIM:616809]
synonym: "hyperphosphatasia with mental retardation syndrome type 6" EXACT [MONDORULE:1, OMIM:616809]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY" EXACT [MONDO:design_pattern]
synonym: "PIGY hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616809 {source="MONDO:equivalentTo"}
xref: UMLS:C4225201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616809", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/616809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225201

[Term]
id: MONDO:0014781
name: combined oxidative phosphorylation deficiency 29
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 29" EXACT [OMIM:616811]
synonym: "combined oxidative phosphorylation deficiency 29; COXPD29" EXACT [MONDOLEX:0014781]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TXN2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 29" EXACT [MONDORULE:2, OMIM:616811]
synonym: "COXPD29" EXACT ABBREVIATION [MONDOLEX:0014781, OMIM:616811]
synonym: "TXN2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616811 {source="MONDO:equivalentTo"}
xref: UMLS:C4225200 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616811", source="MONDO:Redundant", source="OMIM:616811"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/616811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225200

[Term]
id: MONDO:0014782
name: autosomal recessive limb-girdle muscular dystrophy type 2X
def: "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." [Orphanet:476084]
subset: ordo_disease {source="Orphanet:476084"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome" EXACT [Orphanet:476084]
synonym: "BVES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2X" EXACT [DOID:0110290, OMIM:616812, Orphanet:476084]
synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [DOID:0110290]
synonym: "muscular dystrophy, limb-girdle, type 2x" EXACT [OMIM:616812]
synonym: "muscular dystrophy, limb-girdle, type 2X; LGMD2X" RELATED [OMIM:616812]
xref: DOID:0110290 {source="MONDO:equivalentTo"}
xref: OMIM:616812 {source="DOID:0110290", source="MONDO:equivalentTo", source="Orphanet:476084"}
xref: Orphanet:476084 {source="DOID:0110290", source="MONDO:equivalentTo"}
xref: UMLS:C4225199 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:476084"} ! genetic cardiac rhythm disease
is_a: MONDO:0015152 {source="DOID:0110290", source="MONDO:Redundant", source="MONDOLEX:0014782", source="OMIM:616812", source="Orphanet:476084"} ! autosomal recessive limb-girdle muscular dystrophy
property_value: exactMatch DOID:0110290
property_value: exactMatch http://identifiers.org/omim/616812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225199
property_value: exactMatch Orphanet:476084

[Term]
id: MONDO:0014783
name: preimplantation embryonic lethality 1
def: "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "preimplantation embryonic lethality 1" EXACT [OMIM:616814]
synonym: "preimplantation embryonic lethality 1; PREMBL1" EXACT [MONDOLEX:0014783]
synonym: "preimplantation embryonic lethality caused by mutation in TLE6" EXACT [MONDO:design_pattern]
synonym: "preimplantation embryonic lethality type 1" EXACT [MONDORULE:1, OMIM:616814]
synonym: "Prembl" RELATED [OMIM:616814]
synonym: "PREMBL1" EXACT ABBREVIATION [MONDOLEX:0014783, OMIM:616814]
synonym: "TLE6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616814 {source="MONDO:equivalentTo"}
xref: UMLS:C4225197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000218 {source="DC-OMIM:616814", source="MONDO:Redundant", source="OMIM:616814"} ! preimplantation embryonic lethality
property_value: exactMatch http://identifiers.org/omim/616814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225197

[Term]
id: MONDO:0014784
name: severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
def: "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." [Orphanet:467176]
subset: ordo_disease {source="Orphanet:467176"}
synonym: "hypotonia, infantile, with psychomotor retardation" EXACT [OMIM:616816]
synonym: "hypotonia, infantile, with psychomotor retardation; IHPMR" RELATED [OMIM:616816]
synonym: "IHPMR" EXACT [OMIM:616816]
xref: OMIM:616816 {source="MONDO:equivalentTo", source="Orphanet:467176"}
xref: Orphanet:467176 {source="MONDO:equivalentTo"}
xref: UMLS:C4225196 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015506 {source="Orphanet:467176"} ! rare syndrome with cardiac malformations
is_a: MONDO:0019952 {source="Orphanet:467176"} ! congenital myopathy
is_a: MONDO:0020253 {source="Orphanet:467176"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: exactMatch http://identifiers.org/omim/616816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225196
property_value: exactMatch Orphanet:467176

[Term]
id: MONDO:0014785
name: microcephaly, short stature, and impaired glucose metabolism 2
def: "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "microcephaly, short stature, and impaired glucose metabolism 2" EXACT [OMIM:616817]
synonym: "microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2" EXACT [MONDOLEX:0014785]
synonym: "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B" EXACT [MONDO:design_pattern]
synonym: "microcephaly, short stature, and impaired glucose metabolism type 2" EXACT [MONDORULE:1, OMIM:616817]
synonym: "MSSGM2" EXACT ABBREVIATION [MONDOLEX:0014785, OMIM:616817]
synonym: "PPP1R15B microcephaly, short stature, and impaired glucose metabolism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616817 {source="MONDO:equivalentTo"}
xref: UMLS:C4225195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly (disease)
is_a: MONDO:0018320 {source="ORDO:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
property_value: exactMatch http://identifiers.org/omim/616817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225195

[Term]
id: MONDO:0014786
name: IgA nephropathy, susceptibility to, 3
def: "Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IgA glomerulonephritis caused by mutation in SPRY2" EXACT [MONDO:design_pattern]
synonym: "IgA nephropathy, susceptibility to, 3" EXACT [OMIM:616818]
synonym: "IgA nephropathy, susceptibility to, 3; IGAN3" EXACT [MONDOLEX:0014786]
synonym: "IgA nephropathy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:616818]
synonym: "IGAN3" EXACT ABBREVIATION [MONDOLEX:0014786, OMIM:616818]
synonym: "SPRY2 IgA glomerulonephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to IgA nephropathy 3" RELATED [OMIM:616818]
xref: OMIM:616818 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005342 ! IgA glomerulonephritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225194
property_value: exactMatch http://identifiers.org/omim/616818

[Term]
id: MONDO:0014787
name: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:466688"}
synonym: "Birk-Flusser syndrome" RELATED [OMIM:616819]
synonym: "CCAFCA" EXACT [OMIM:616819]
synonym: "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia" EXACT [OMIM:616819]
synonym: "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia; CCAFCA" RELATED [OMIM:616819]
xref: OMIM:616819 {source="Orphanet:466688", source="MONDO:equivalentTo"}
xref: Orphanet:466688 {source="MONDO:equivalentTo"}
xref: UMLS:C4225193 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466688", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:466688"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017118 {source="Orphanet:466688"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0017122 {source="Orphanet:466688"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225193
property_value: exactMatch Orphanet:466688

[Term]
id: MONDO:0014788
name: autosomal recessive limb-girdle muscular dystrophy type 2W
def: "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." [Orphanet:466801]
subset: ordo_disease {source="Orphanet:466801"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2" EXACT [MONDO:design_pattern]
synonym: "LGMD2W" EXACT [DOID:0110288, OMIM:616827, Orphanet:466801]
synonym: "LIMS2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [DOID:0110288]
synonym: "muscular dystrophy, limb-girdle, type 2w" EXACT [OMIM:616827]
synonym: "muscular dystrophy, limb-girdle, type 2W; LGMD2W" RELATED [OMIM:616827]
xref: DOID:0110288 {source="MONDO:equivalentTo"}
xref: OMIM:616827 {source="MONDO:equivalentTo", source="Orphanet:466801", source="DOID:0110288"}
xref: Orphanet:466801 {source="MONDO:equivalentTo", source="DOID:0110288"}
xref: UMLS:C4225192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="DOID:0110288", source="MONDO:Redundant", source="MONDOLEX:0014788", source="OMIM:616827", source="Orphanet:466801"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016334 {source="Orphanet:466801"} ! neuromuscular disease with dilated cardiomyopathy
property_value: exactMatch DOID:0110288
property_value: exactMatch http://identifiers.org/omim/616827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225192
property_value: exactMatch Orphanet:466801

[Term]
id: MONDO:0014789
name: CCDC115-CDG
subset: ordo_disease {source="Orphanet:468684"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [Orphanet:468684]
synonym: "CDG IIo" RELATED [OMIM:616828]
synonym: "CDG syndrome type IIo" EXACT [Orphanet:468684]
synonym: "CDG-IIo" EXACT [Orphanet:468684]
synonym: "CDG2O" EXACT [OMIM:616828, Orphanet:468684]
synonym: "congenital disorder of glycosylation type 2o" EXACT [Orphanet:468684]
synonym: "congenital disorder of glycosylation type IIo" EXACT [Orphanet:468684]
synonym: "congenital disorder of glycosylation, type IIo" EXACT [OMIM:616828]
synonym: "congenital disorder of glycosylation, type IIo; CDG2O" RELATED [OMIM:616828]
xref: DOID:0070267 {source="MONDO:equivalentTo"}
xref: OMIM:616828 {source="MONDO:equivalentTo", source="Orphanet:468684"}
xref: Orphanet:468684 {source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:616828", source="MONDOLEX:0014789", source="OMIM:616828"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017749 {source="Orphanet:468684"} ! disorder of multiple glycosylation
relationship: has_modifier MONDO:0021136 {source="MONDO:0018799"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225191
property_value: exactMatch DOID:0070267
property_value: exactMatch http://identifiers.org/omim/616828
property_value: exactMatch Orphanet:468684

[Term]
id: MONDO:0014790
name: TMEM199-CDG
subset: ordo_disease {source="Orphanet:466703"}
synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [Orphanet:466703]
synonym: "CDG IIp" RELATED [OMIM:616829]
synonym: "CDG syndrome type IIp" EXACT [Orphanet:466703]
synonym: "CDG-IIp" EXACT [Orphanet:466703]
synonym: "CDG2P" EXACT [OMIM:616829, Orphanet:466703]
synonym: "congenital disorder of glycosylation type 2p" EXACT [Orphanet:466703]
synonym: "congenital disorder of glycosylation type IIp" EXACT [Orphanet:466703]
synonym: "congenital disorder of glycosylation, type IIp" EXACT [OMIM:616829]
synonym: "congenital disorder of glycosylation, type IIp; CDG2P" RELATED [OMIM:616829]
xref: DOID:0070268 {source="MONDO:equivalentTo"}
xref: OMIM:616829 {source="MONDO:equivalentTo", source="Orphanet:466703"}
xref: Orphanet:466703 {source="MONDO:equivalentTo"}
xref: UMLS:C4225190 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="DC-OMIM:616829", source="MONDOLEX:0014790", source="OMIM:616829"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017749 {source="Orphanet:466703"} ! disorder of multiple glycosylation
relationship: has_modifier MONDO:0021136 {source="MONDO:0018799"} ! rare
property_value: exactMatch DOID:0070268
property_value: exactMatch http://identifiers.org/omim/616829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225190
property_value: exactMatch Orphanet:466703

[Term]
id: MONDO:0014791
name: Luscan-Lumish syndrome
synonym: "LLs" EXACT ABBREVIATION [MONDOLEX:0014791]
synonym: "LLs" RELATED [OMIM:616831]
synonym: "Luscan-Lumish syndrome" EXACT [OMIM:616831]
synonym: "Luscan-Lumish syndrome; LLs" EXACT [MONDOLEX:0014791]
xref: OMIM:616831 {source="MONDO:equivalentTo"}
xref: UMLS:C4085873 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085873

[Term]
id: MONDO:0014792
name: Paget disease of bone 6
synonym: "Paget disease of bone 6" EXACT [OMIM:616833]
synonym: "Paget disease of bone 6; PDB6" EXACT [MONDOLEX:0014792]
synonym: "Paget disease of bone type 6" EXACT [MONDORULE:1, OMIM:616833]
synonym: "PDB6" EXACT ABBREVIATION [MONDOLEX:0014792]
synonym: "PDB6" RELATED [OMIM:616833]
xref: OMIM:616833 {source="MONDO:equivalentTo"}
xref: UMLS:C4085250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005382 {source="DC-OMIM:616833", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/616833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4085250

[Term]
id: MONDO:0014793
name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome
subset: ordo_malformation_syndrome
synonym: "MCCPD" EXACT [OMIM:616834]
synonym: "microcephaly, congenital cataract, and psoriasiform dermatitis" EXACT [OMIM:616834]
synonym: "microcephaly, congenital cataract, and psoriasiform dermatitis; MCCPD" RELATED [OMIM:616834]
synonym: "Sc4Mol deficiency" RELATED [OMIM:616834]
synonym: "smo deficiency" EXACT [Orphanet:488168]
synonym: "sterol-C4-methyl oxidase deficiency" EXACT [Orphanet:488168]
xref: OMIM:616834 {source="Orphanet:488168", source="MONDO:equivalentTo"}
xref: Orphanet:488168 {source="MONDO:equivalentTo"}
xref: UMLS:C4225189 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0019240 {source="Orphanet:488168"} ! sterol biosynthesis disorder
is_a: MONDO:0019274 {source="Orphanet:488168"} ! other epidermal disorder
is_a: MONDO:0020225 {source="Orphanet:488168"} ! syndromic cataract
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/omim/616834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225189
property_value: exactMatch Orphanet:488168

[Term]
id: MONDO:0014794
name: Meier-Gorlin syndrome 6
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GMNN Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 6" EXACT [OMIM:616835]
synonym: "Meier-GORLIN syndrome 6; MGORS6" RELATED [OMIM:616835]
synonym: "Meier-Gorlin syndrome caused by mutation in GMNN" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 6" EXACT [MONDORULE:1, OMIM:616835]
synonym: "MGORS6" EXACT [OMIM:616835]
xref: OMIM:616835 {source="MONDO:equivalentTo"}
xref: UMLS:C4225188 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016817 {source="DC-OMIM:616835", source="MONDO:Redundant", source="OMIM:616835"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/616835
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225188

[Term]
id: MONDO:0014795
name: exercise intolerance, riboflavin-responsive
synonym: "exercise intolerance, riboflavin-responsive" EXACT [OMIM:616839]
synonym: "exercise intolerance, riboflavin-responsive; RREI" RELATED [OMIM:616839]
synonym: "RREI" RELATED [OMIM:616839]
xref: OMIM:616839 {source="MONDO:equivalentTo"}
xref: UMLS:C4225187 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225187

[Term]
id: MONDO:0014796
name: autosomal recessive early-onset Parkinson disease 23
def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT [DOID:0060896]
synonym: "autosomal recessive early-onset Parkinson's disease 23" RELATED [DOID:0060896]
synonym: "autosomal recessive early-onset Parksinson disease type 23" EXACT [DOID:0060896, MONDORULE:2]
synonym: "PARK23" EXACT [OMIM:616840]
synonym: "Parkinson disease 23, autosomal recessive early-onset" EXACT [OMIM:616840]
synonym: "Parkinson disease 23, autosomal recessive early-onset; PARK23" RELATED [OMIM:616840]
synonym: "VPS13C young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in VPS13C" EXACT [MONDO:design_pattern]
xref: DOID:0060896 {source="MONDO:equivalentTo"}
xref: ICD10:G20 {source="DOID:0060896"}
xref: OMIM:616840 {source="MONDO:equivalentTo", source="DOID:0060896"}
xref: UMLS:C4225186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017279 {source="DOID:0060896", source="MONDO:Redundant", source="MONDOLEX:0014796"} ! young-onset Parkinson disease
property_value: exactMatch DOID:0060896
property_value: exactMatch http://identifiers.org/omim/616840
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225186

[Term]
id: MONDO:0014797
name: lymphedema, hereditary, type III
synonym: "generalized lymphatic dysplasia of Fotiou" RELATED [OMIM:616843]
synonym: "LMPH3" EXACT [OMIM:616843]
synonym: "lymphedema, hereditary, 3" RELATED [OMIM:616843]
synonym: "lymphedema, hereditary, III" EXACT [OMIM:616843]
synonym: "lymphedema, hereditary, III; LMPH3" RELATED [OMIM:616843]
synonym: "lymphedema, hereditary, type III" EXACT [MONDORULE:3, OMIM:616843]
xref: EFO:0009153 {source="MONDO:equivalentTo"}
xref: OMIM:616843 {source="MONDO:equivalentTo"}
xref: UMLS:C4225184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019297 {source="DC-OMIM:616843", source="EFO:0009153"} ! lymphedema
property_value: exactMatch http://identifiers.org/omim/616843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225184

[Term]
id: MONDO:0014798
name: brachydactyly type A1D
def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BDA1D" EXACT [DOID:0110978, OMIM:616849]
synonym: "BMPR1B brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "brachydactyly type A1 caused by mutation in BMPR1B" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type A1, D" EXACT [OMIM:616849]
synonym: "brachydactyly, type A1, D; BDA1D" RELATED [OMIM:616849]
xref: DOID:0110978 {source="MONDO:equivalentTo"}
xref: OMIM:616849 {source="DOID:0110978", source="MONDO:equivalentTo"}
xref: UMLS:C4225183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007215 {source="DOID:0110978", source="MONDO:Entailed", source="MONDO:Redundant"} ! brachydactyly type A1
property_value: exactMatch DOID:0110978
property_value: exactMatch http://identifiers.org/omim/616849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225183

[Term]
id: MONDO:0014799
name: cataract 45
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cataract 45" EXACT [OMIM:616851]
synonym: "cataract 45; CTRCT45" RELATED [OMIM:616851]
synonym: "cataract type 45" EXACT [DOID:0110262, MONDORULE:2, OMIM:616851]
synonym: "CTRCT45" EXACT [DOID:0110262, OMIM:616851]
synonym: "early-onset non-syndromic cataract caused by mutation in SIPA1L3" EXACT [MONDO:design_pattern]
synonym: "SIPA1L3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110262 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="DOID:0110262"}
xref: OMIM:616851 {source="MONDO:equivalentTo", source="DOID:0110262"}
xref: UMLS:C4225182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract
property_value: exactMatch DOID:0110262
property_value: exactMatch http://identifiers.org/omim/616851
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225182

[Term]
id: MONDO:0014800
name: progressive scapulohumeroperoneal distal myopathy
subset: ordo_disease {source="Orphanet:447977"}
synonym: "myopathy, scapulohumeroperoneal" EXACT [OMIM:616852]
synonym: "myopathy, scapulohumeroperoneal; SHPM" RELATED [OMIM:616852]
synonym: "SHPM" RELATED [OMIM:616852]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:447977", source="ORDO:447977/attributed", source="ORDO:447977/ntbt"}
xref: OMIM:616852 {source="ORDO:447977/e", source="Orphanet:447977", source="MONDO:equivalentTo"}
xref: Orphanet:447977 {source="MONDO:equivalentTo"}
xref: UMLS:C4225181 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016106 {source="Orphanet:447977"} ! progressive muscular dystrophy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
property_value: exactMatch http://identifiers.org/omim/616852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225181
property_value: exactMatch Orphanet:447977

[Term]
id: MONDO:0014801
name: even-plus syndrome
subset: ordo_malformation_syndrome
synonym: "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" RELATED [OMIM:616854]
synonym: "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome" EXACT [Orphanet:496751]
synonym: "even-plus syndrome" EXACT [OMIM:616854]
synonym: "even-plus syndrome; EVPLS" RELATED [OMIM:616854]
synonym: "EVPLS" EXACT [OMIM:616854]
xref: OMIM:616854 {source="Orphanet:496751", source="MONDO:equivalentTo"}
xref: Orphanet:496751 {source="MONDO:equivalentTo"}
xref: UMLS:C4225180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:496751"} ! syndromic anorectal malformation
is_a: MONDO:0016761 {source="Orphanet:496751"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:496751"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/omim/616854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225180
property_value: exactMatch Orphanet:496751

[Term]
id: MONDO:0014802
name: Cowden syndrome 7
def: "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in SEC23B" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 7" EXACT [OMIM:616858]
synonym: "Cowden syndrome 7; CWS7" RELATED [OMIM:616858]
synonym: "Cowden syndrome type 7" EXACT [MONDORULE:1, OMIM:616858]
synonym: "CWS7" RELATED [OMIM:616858]
synonym: "SEC23B Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616858 {source="MONDO:equivalentTo"}
xref: UMLS:C4225179 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016063 {source="DC-OMIM:616858", source="MONDO:Redundant", source="MONDOLEX:0014802", source="OMIM:616858"} ! Cowden disease
property_value: exactMatch http://identifiers.org/omim/616858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225179

[Term]
id: MONDO:0014803
name: spasticity-ataxia-gait anomalies syndrome
subset: ordo_disease {source="Orphanet:401866"}
synonym: "childhood-onset spasticity with hyperglycinemia" RELATED [Orphanet:401866]
synonym: "childhood-onset spasticity with variant non-ketotic hyperglycinemia" EXACT [Orphanet:401866]
synonym: "SPAHGC" EXACT [OMIM:616859]
synonym: "spasticity, childhood-onset, with hyperglycinemia" EXACT [OMIM:616859]
synonym: "spasticity, childhood-onset, with hyperglycinemia; SPAHGC" RELATED [OMIM:616859]
xref: ICD10:E88.8 {source="Orphanet:401866", source="ORDO:401866/attributed", source="ORDO:401866/ntbt"}
xref: OMIM:616859 {source="Orphanet:401866", source="ORDO:401866/e", source="MONDO:equivalentTo"}
xref: Orphanet:401866 {source="MONDO:equivalentTo"}
xref: UMLS:C4225178 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0017845 {source="Orphanet:401866"} ! spastic ataxia
is_a: MONDO:0018424 {source="Orphanet:401866"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/omim/616859
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225178
property_value: exactMatch Orphanet:401866

[Term]
id: MONDO:0014804
name: sideroblastic anemia 3
subset: ordo_disease {source="Orphanet:255132"}
synonym: "adult-onset autosomal recessive sideroblastic anemia" EXACT [Orphanet:255132]
synonym: "anemia, sideroblastic, 3, pyridoxine-refractory" EXACT [OMIM:616860]
synonym: "anemia, sideroblastic, 3, pyridoxine-refractory; SIDBA3" RELATED [OMIM:616860]
synonym: "GLRX5-related sideroblastic anemia" EXACT [Orphanet:255132]
synonym: "SIDBA3" EXACT [OMIM:616860]
xref: DOID:0080343 {source="MONDO:equivalentTo"}
xref: ICD10:D64.0 {source="Orphanet:255132", source="ORDO:255132/attributed", source="ORDO:255132/ntbt"}
xref: OMIM:616860 {source="Orphanet:255132", source="DOID:0080343", source="MONDO:equivalentTo", source="ORDO:255132/e"}
xref: Orphanet:255132 {source="MONDO:equivalentTo"}
xref: SCTID:720465002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0016801 {source="Orphanet:255132"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0016828 ! autosomal recessive sideroblastic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673914
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225155
property_value: exactMatch DOID:0080343
property_value: exactMatch http://identifiers.org/omim/616860
property_value: exactMatch http://identifiers.org/snomedct/720465002
property_value: exactMatch Orphanet:255132

[Term]
id: MONDO:0014805
name: 16p13.2 microdeletion syndrome
subset: ordo_malformation_syndrome
synonym: "chromosome 16P13.2 deletion syndrome" RELATED [OMIM:616863]
synonym: "chromosome 16p13.2 deletion syndrome" RELATED [OMIM:616863]
synonym: "Del(16)(p13.2)" EXACT [Orphanet:500055]
synonym: "monosomy 16p13.2" EXACT [Orphanet:500055]
xref: OMIM:616863 {source="MONDO:equivalentTo", source="Orphanet:500055"}
xref: Orphanet:500055 {source="MONDO:equivalentTo"}
xref: UMLS:C4225667 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500055", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DC-OMIM:616863"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016894 {source="Orphanet:500055"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/616863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225667
property_value: exactMatch Orphanet:500055

[Term]
id: MONDO:0014806
name: spinal muscular atrophy with congenital bone fractures 1
def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4" EXACT [MONDO:design_pattern]
synonym: "SMA1 with congenital bone fractures" RELATED [GARD:0004947]
synonym: "SMABF1" EXACT [OMIM:616866]
synonym: "spinal muscular atrophy type 1 with congenital bone fractures" RELATED [GARD:0004947]
synonym: "spinal muscular atrophy with congenital bone fractures 1" EXACT [OMIM:616866]
synonym: "spinal muscular atrophy with congenital bone fractures 1; SMABF1" RELATED [OMIM:616866]
synonym: "spinal muscular atrophy with congenital bone fractures type 1" EXACT [MONDORULE:1, OMIM:616866]
synonym: "spinal muscular atrophy, type I, with congenital bone fractures" EXACT [MONDO:0010059, OMIM:271225]
synonym: "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0004947 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C564805 {source="MONDO:equivalentTo"}
xref: OMIM:271225 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:616866 {source="MONDO:equivalentTo"}
xref: UMLS:C1849101 {source="OMIM:271225", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4225177 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000209 {source="DC-OMIM:616866", source="MONDO:Redundant", source="OMIM:616866"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures
property_value: exactMatch http://identifiers.org/mesh/C564805
property_value: exactMatch http://identifiers.org/omim/271225
property_value: exactMatch http://identifiers.org/omim/616866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225177

[Term]
id: MONDO:0014807
name: spinal muscular atrophy with congenital bone fractures 2
def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1" EXACT [MONDO:design_pattern]
synonym: "SMABF2" EXACT [OMIM:616867]
synonym: "spinal muscular atrophy with congenital bone fractures 2" EXACT [OMIM:616867]
synonym: "spinal muscular atrophy with congenital bone fractures 2; SMABF2" RELATED [OMIM:616867]
synonym: "spinal muscular atrophy with congenital bone fractures type 2" EXACT [MONDORULE:1, OMIM:616867]
xref: OMIM:616867 {source="MONDO:equivalentTo"}
xref: UMLS:C4225176 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000209 {source="DC-OMIM:616867", source="MONDO:Redundant", source="OMIM:616867"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures
property_value: exactMatch http://identifiers.org/omim/616867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225176

[Term]
id: MONDO:0014808
name: congenital secretory sodium diarrhea 8
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital secretory sodium diarrhea type 8" EXACT [DOID:0060777, MONDORULE:1]
synonym: "DIAR8" EXACT [DOID:0060777, OMIM:616868]
synonym: "diarrhea 8, secretory sodium, congenital" EXACT [OMIM:616868]
synonym: "diarrhea 8, secretory sodium, congenital; DIAR8" RELATED [OMIM:616868]
synonym: "diarrhea, congenital sodium" RELATED [OMIM:616868]
synonym: "secretory diarrhea caused by mutation in SLC9A3" EXACT [MONDO:design_pattern]
synonym: "SLC9A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060777 {source="MONDO:equivalentTo"}
xref: ICD10:P78.3 {source="DOID:0060777"}
xref: OMIM:616868 {source="MONDO:equivalentTo", source="DOID:0060777"}
xref: UMLS:CN515063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea
is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea
property_value: exactMatch DOID:0060777
property_value: exactMatch http://identifiers.org/omim/616868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN515063

[Term]
id: MONDO:0014809
name: DDX41-related hematologic malignancy predisposition syndrome
def: "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." [MONDO:design_pattern]
subset: ordo_disease
synonym: "DDX41 hereditary neoplastic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary neoplastic syndrome caused by mutation in DDX41" EXACT [MONDO:design_pattern]
synonym: "MPLPF" EXACT [OMIM:616871]
synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" EXACT [OMIM:616871]
synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF" RELATED [OMIM:616871]
synonym: "susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms" RELATED [OMIM:616871]
xref: OMIM:616871 {source="MONDO:equivalentTo", source="Orphanet:488647"}
xref: Orphanet:488647 {source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:488647"} ! hereditary neoplastic syndrome
relationship: predisposes_towards MONDO:0006311 ! myelodysplastic/myeloproliferative Neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225174
property_value: exactMatch http://identifiers.org/omim/616871
property_value: exactMatch Orphanet:488647

[Term]
id: MONDO:0014810
name: pancytopenia due to IKZF1 mutations
def: "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." [MONDO:design_pattern]
subset: ordo_disease {source="Orphanet:317473"}
synonym: "Cid due to IKAROS deficiency" EXACT [Orphanet:317473]
synonym: "combined immunodeficiency due to IKAROS deficiency" EXACT [Orphanet:317473]
synonym: "CVID13" EXACT [OMIM:616873]
synonym: "IKZF1 syndrome with combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "immunodeficiency, common variable, 13" EXACT [OMIM:616873]
synonym: "immunodeficiency, common variable, 13; CVID13" RELATED [OMIM:616873]
synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2, OMIM:616873]
synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" EXACT [MONDO:design_pattern]
xref: ICD10:D81.8 {source="ORDO:317473/attributed", source="ORDO:317473/ntbt", source="Orphanet:317473"}
xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="ORDO:317473/e"}
xref: Orphanet:317473 {source="MONDO:equivalentTo"}
xref: UMLS:C4225173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="DC-OMIM:616873", source="MONDOLEX:0014810", source="OMIM:616873"} ! common variable immunodeficiency
is_a: MONDO:0018035 {source="MONDO:Redundant", source="Orphanet:317473"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/616873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225173
property_value: exactMatch Orphanet:317473

[Term]
id: MONDO:0014811
name: cerebellar atrophy, visual impairment, and psychomotor retardation;
synonym: "CAVIPMR" RELATED [OMIM:616875]
synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation" RELATED [OMIM:616875]
synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation; CAVIPMR" RELATED [OMIM:616875]
xref: OMIM:616875 {source="MONDO:equivalentTo"}
xref: UMLS:C4225172 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225172

[Term]
id: MONDO:0014812
name: metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
synonym: "MECRCN" EXACT ABBREVIATION [MONDOLEX:0014812, OMIM:616878]
synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, Cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878]
synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; MECRCN" EXACT [MONDOLEX:0014812]
synonym: "TANGO2 deficiency" EXACT [PMID:31339582]
synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582]
xref: GARD:0013423 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1054"}
xref: OMIM:616878 {source="MONDO:equivalentTo"}
xref: UMLS:C4225171 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616878
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225171
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias xsd:string

[Term]
id: MONDO:0014813
name: hypomyelinating leukodystrophy 13
def: "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HIKESHI leukodystrophy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "hikeshi leukodystrophy" EXACT [MONDO:design_pattern]
synonym: "HLD13" EXACT [DOID:0060795, OMIM:616881]
synonym: "hypomyelinating leukodystrophy type 13" EXACT [DOID:0060795, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in HIKESHI" EXACT []
synonym: "leukodystrophy caused by mutation in hikeshi" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 13" EXACT [OMIM:616881]
synonym: "leukodystrophy, hypomyelinating, 13; HLD13" RELATED [OMIM:616881]
synonym: "leukodystrophy, hypomyelinating, type 13" EXACT [MONDORULE:2, OMIM:616881]
xref: DOID:0060795 {source="MONDO:equivalentTo"}
xref: OMIM:616881 {source="DOID:0060795", source="MONDO:equivalentTo"}
xref: UMLS:C4225170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="DOID:0060795", source="DOID:0060795/inferred", source="MONDO:Redundant", source="OMIM:616881"} ! leukodystrophy
property_value: exactMatch DOID:0060795
property_value: exactMatch http://identifiers.org/omim/616881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225170

[Term]
id: MONDO:0014814
name: advanced sleep phase syndrome 3
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "advanced sleep phase syndrome caused by mutation in PER3" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 3" EXACT [DOID:0110013, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 3" EXACT [OMIM:616882]
synonym: "advanced sleep phase syndrome, familial, 3; FASPS3" RELATED [OMIM:616882]
synonym: "advanced sleep phase syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:616882]
synonym: "familial advanced sleep phase syndrome 3" EXACT [DOID:0110013]
synonym: "FASPS3" EXACT [DOID:0110013, OMIM:616882]
synonym: "PER3 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110013 {source="MONDO:equivalentTo"}
xref: OMIM:616882 {source="MONDO:equivalentTo", source="DOID:0110013"}
xref: UMLS:C4225169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015609 {source="DC-OMIM:616882", source="DOID:0110013", source="MONDO:Redundant", source="OMIM:616882"} ! advanced sleep phase syndrome
property_value: exactMatch DOID:0110013
property_value: exactMatch http://identifiers.org/omim/616882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225169

[Term]
id: MONDO:0014815
name: intellectual disability, autosomal recessive 52
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L" EXACT [MONDO:design_pattern]
synonym: "LMAN2L autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 52" EXACT [OMIM:616887]
synonym: "mental retardation, autosomal recessive 52; MRT52" RELATED [OMIM:616887]
synonym: "mental retardation, autosomal recessive type 52" EXACT [MONDORULE:2, OMIM:616887]
synonym: "MRT52" EXACT [OMIM:616887]
xref: OMIM:616887 {source="MONDO:equivalentTo"}
xref: UMLS:C4225168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:616887", source="MONDO:Redundant", source="OMIM:616887"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616887
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225168

[Term]
id: MONDO:0014816
name: split-foot malformation-mesoaxial polydactyly syndrome
subset: ordo_malformation_syndrome
synonym: "SFMMP" EXACT [OMIM:616890, Orphanet:488232]
synonym: "split-foot malformation with mesoaxial polydactyly" EXACT [OMIM:616890]
synonym: "split-foot malformation with mesoaxial polydactyly; SFMMP" RELATED [OMIM:616890]
synonym: "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" EXACT [Orphanet:488232]
xref: OMIM:616890 {source="MONDO:equivalentTo", source="Orphanet:488232"}
xref: Orphanet:488232 {source="MONDO:equivalentTo"}
xref: UMLS:C4225167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017432 {source="Orphanet:488232"} ! syndrome with limb reduction defects
is_a: MONDO:0017434 {source="Orphanet:488232"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019285 {source="Orphanet:488232"} ! syndromic nail anomaly
is_a: MONDO:0019589 {source="Orphanet:488232"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:488232"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/omim/616890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225167
property_value: exactMatch Orphanet:488232

[Term]
id: MONDO:0014817
name: nephrotic syndrome, type 12
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial nephrotic syndrome caused by mutation in NUP93" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 12" EXACT [OMIM:616892]
synonym: "nephrotic syndrome, type 12; NPHS12" EXACT [MONDOLEX:0014817]
synonym: "NPHS12" EXACT ABBREVIATION [MONDOLEX:0014817, OMIM:616892]
synonym: "NUP93 familial nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616892 {source="MONDO:equivalentTo"}
xref: UMLS:C4225166 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/616892
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225166

[Term]
id: MONDO:0014818
name: nephrotic syndrome, type 13
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial nephrotic syndrome caused by mutation in NUP205" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 13" EXACT [OMIM:616893]
synonym: "nephrotic syndrome, type 13; NPHS13" EXACT [MONDOLEX:0014818]
synonym: "NPHS13" EXACT ABBREVIATION [MONDOLEX:0014818, OMIM:616893]
synonym: "NUP205 familial nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616893 {source="MONDO:equivalentTo"}
xref: UMLS:C4225165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/616893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225165

[Term]
id: MONDO:0014819
name: autosomal dominant Robinow syndrome 3
def: "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant Robinow syndrome type 3" EXACT [DOID:0060767, MONDORULE:1]
synonym: "DRS3" EXACT [DOID:0060767, OMIM:616894]
synonym: "DVL3 Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Robinow syndrome caused by mutation in DVL3" EXACT [MONDO:design_pattern]
synonym: "Robinow syndrome, autosomal dominant 3" EXACT [OMIM:616894]
synonym: "Robinow syndrome, autosomal dominant 3; DRS3" RELATED [OMIM:616894]
synonym: "Robinow syndrome, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616894]
xref: DOID:0060767 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="DOID:0060767"}
xref: OMIM:616894 {source="MONDO:equivalentTo", source="DOID:0060767"}
xref: UMLS:C4225164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008389 {source="MONDOLEX:0014819", source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome
property_value: exactMatch DOID:0060767
property_value: exactMatch http://identifiers.org/omim/616894
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225164

[Term]
id: MONDO:0014820
name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [OMIM:616896]
synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14" EXACT [MONDOLEX:0014820]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in OPA1" EXACT [MONDO:design_pattern]
synonym: "MTDPS14" EXACT ABBREVIATION [MONDOLEX:0014820, OMIM:616896]
synonym: "OPA1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080336 {source="MONDO:equivalentTo"}
xref: OMIM:616896 {source="MONDO:equivalentTo"}
xref: UMLS:C4225163 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="DC-OMIM:616896", source="MONDO:Redundant", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch DOID:0080336
property_value: exactMatch http://identifiers.org/omim/616896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225163

[Term]
id: MONDO:0014821
name: complex lethal osteochondrodysplasia
subset: ordo_malformation_syndrome {source="Orphanet:457378"}
synonym: "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" EXACT [Orphanet:457378]
synonym: "OCLSBG" RELATED [OMIM:616897]
synonym: "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897]
synonym: "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type; OCLSBG" RELATED [OMIM:616897]
xref: ICD10:Q78.8 {source="Orphanet:457378", source="ORDO:457378/attributed", source="ORDO:457378/ntbt"}
xref: OMIM:616897 {source="Orphanet:457378", source="MONDO:equivalentTo", source="ORDO:457378/e"}
xref: Orphanet:457378 {source="MONDO:equivalentTo"}
xref: UMLS:C4225162 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:457378"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/omim/616897
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225162
property_value: exactMatch Orphanet:457378

[Term]
id: MONDO:0014822
name: 15q14 microdeletion syndrome
def: "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." [Orphanet:261190]
subset: ordo_malformation_syndrome {source="Orphanet:261190"}
synonym: "chromosome 15q14 deletion syndrome" RELATED [OMIM:616898]
synonym: "Del(15)(q14)" EXACT [Orphanet:261190]
synonym: "monosomy 15q14" EXACT [Orphanet:261190]
xref: ICD10:Q93.5 {source="Orphanet:261190", source="ORDO:261190/attributed", source="ORDO:261190/ntbt"}
xref: OMIM:616898 {source="MONDO:equivalentTo", source="Orphanet:261190", source="ORDO:261190/e"}
xref: Orphanet:261190 {source="MONDO:equivalentTo"}
xref: SCTID:719575008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.05"}
xref: UMLS:C4225666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:C4305230 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:616898"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:261190"} ! partial deletion of the long arm of chromosome 15
property_value: exactMatch http://identifiers.org/omim/616898
property_value: exactMatch http://identifiers.org/snomedct/719575008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305230
property_value: exactMatch Orphanet:261190

[Term]
id: MONDO:0014823
name: TBCK-related intellectual disability syndrome
def: "TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." [Orphanet:488632]
subset: ordo_malformation_syndrome
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" EXACT [OMIM:616900]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 3; IHPRF3" RELATED [OMIM:616900]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3" EXACT [MONDORULE:1, OMIM:616900]
synonym: "IHPRF3" EXACT [OMIM:616900]
xref: OMIM:616900 {source="Orphanet:488632", source="MONDO:equivalentTo"}
xref: Orphanet:488632 {source="MONDO:equivalentTo"}
xref: UMLS:C4225161 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0014176 {source="DC-OMIM:616900", source="OMIM:616900"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
property_value: exactMatch http://identifiers.org/omim/616900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225161
property_value: exactMatch Orphanet:488632

[Term]
id: MONDO:0014824
name: craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:459061"}
synonym: "DEDSSH" EXACT [OMIM:616901]
synonym: "developmental delay with short stature, dysmorphic features, and sparse hair" EXACT [OMIM:616901]
synonym: "developmental delay with short stature, dysmorphic features, and sparse hair; DEDSSH" RELATED [OMIM:616901]
synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" EXACT [Orphanet:459061]
synonym: "Loucks-Innes syndrome" RELATED [OMIM:616901]
xref: OMIM:616901 {source="Orphanet:459061", source="ORDO:459061/e", source="MONDO:equivalentTo"}
xref: Orphanet:459061 {source="MONDO:equivalentTo"}
xref: UMLS:C4310801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:459061"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:459061"} ! malformation syndrome with short stature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019710 {source="Orphanet:459061"} ! dysostosis with predominant craniofacial involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/616901
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310801
property_value: exactMatch Orphanet:459061

[Term]
id: MONDO:0014825
name: chromosome 11p13 deletion syndrome, distal
xref: OMIM:616902 {source="MONDO:equivalentTo"}
xref: UMLS:C4311047 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:616902"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch http://identifiers.org/omim/616902
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4311047

[Term]
id: MONDO:0014826
name: nucleoside diphosphate-linked moiety X Motif 15 deficiency
synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency" EXACT [OMIM:616903]
synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D" EXACT [MONDOLEX:0014826]
synonym: "Nudt15 deficiency" RELATED [OMIM:616903]
synonym: "NUDT15D" EXACT ABBREVIATION [MONDOLEX:0014826, OMIM:616903]
synonym: "Thiopurines, poor metabolism Of, 2" RELATED [OMIM:616903]
synonym: "THIOPURINES, poor metabolism OF, 2; THPM2" RELATED [OMIM:616903]
synonym: "THPM2" RELATED [OMIM:616903]
xref: OMIM:616903 {source="MONDO:equivalentTo"}
xref: UMLS:C4225160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000210 {source="DC-OMIM:616903", source="OMIM:616903"} ! thiopurine metabolic disease
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/omim/616903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225160

[Term]
id: MONDO:0014827
name: autosomal recessive spastic paraplegia type 76
def: "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." [Orphanet:488594]
subset: ordo_disease
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 76" EXACT [DOID:0110821]
synonym: "CAPN1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia 76" RELATED [DOID:0110821]
synonym: "hereditary spastic paraplegia type 76" EXACT [DOID:0110821, MONDORULE:2]
synonym: "spastic paraplegia 76, autosomal recessive" EXACT [OMIM:616907]
synonym: "spastic paraplegia 76, autosomal recessive; SPG76" RELATED [OMIM:616907]
synonym: "SPG76" EXACT [DOID:0110821, OMIM:616907, Orphanet:488594]
xref: DOID:0110821 {source="MONDO:equivalentTo"}
xref: EFO:0009019 {source="MONDO:equivalentTo"}
xref: OMIM:616907 {source="DOID:0110821", source="MONDO:equivalentTo", source="Orphanet:488594"}
xref: Orphanet:488594 {source="MONDO:equivalentTo"}
xref: UMLS:C4310800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:488594"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch DOID:0110821
property_value: exactMatch http://identifiers.org/omim/616907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310800
property_value: exactMatch Orphanet:488594

[Term]
id: MONDO:0014828
name: immunodeficiency-centromeric instability-facial anomalies syndrome 3
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 3" EXACT [DOID:0090010]
synonym: "ICF3" RELATED [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 3" EXACT [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3; ICF3" RELATED [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3" EXACT [MONDORULE:1, OMIM:616910]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 3" EXACT [DOID:0090010, MONDORULE:1]
xref: DOID:0090010 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="DOID:0090010"}
xref: OMIM:616910 {source="DOID:0090010", source="MONDO:equivalentTo"}
xref: UMLS:C4310799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000133 {source="DC-OMIM:616910", source="DOID:0090010", source="MONDO:Redundant", source="OMIM:616910"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
property_value: exactMatch DOID:0090010
property_value: exactMatch http://identifiers.org/omim/616910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310799

[Term]
id: MONDO:0014829
name: immunodeficiency-centromeric instability-facial anomalies syndrome 4
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 4" EXACT [DOID:0090011]
synonym: "ICF4" RELATED [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 4" EXACT [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; ICF4" RELATED [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4" EXACT [MONDORULE:1, OMIM:616911]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 4" EXACT [DOID:0090011, MONDORULE:1]
xref: DOID:0090011 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="DOID:0090011"}
xref: OMIM:616911 {source="DOID:0090011", source="MONDO:equivalentTo"}
xref: UMLS:C4310798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000133 {source="DC-OMIM:616911", source="DOID:0090011", source="MONDO:Redundant", source="OMIM:616911"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
property_value: exactMatch DOID:0090011
property_value: exactMatch http://identifiers.org/omim/616911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310798

[Term]
id: MONDO:0014830
name: platelet-type bleeding disorder 20
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:466806"}
synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [DOID:0111055]
synonym: "BDPLT20" EXACT [DOID:0111055, OMIM:616913]
synonym: "bleeding disorder, platelet-type, 20" EXACT [OMIM:616913]
synonym: "bleeding disorder, platelet-type, 20; BDPLT20" RELATED [OMIM:616913]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in SLFN14" EXACT [MONDO:design_pattern]
synonym: "SLFN14 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111055 {source="MONDO:equivalentTo"}
xref: OMIM:616913 {source="MONDO:equivalentTo", source="DOID:0111055", source="Orphanet:466806"}
xref: Orphanet:466806 {source="MONDO:equivalentTo", source="DOID:0111055"}
xref: UMLS:C4310797 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018796 {source="Orphanet:466806"} ! isolated constitutional thrombocytopenia
property_value: exactMatch DOID:0111055
property_value: exactMatch http://identifiers.org/omim/616913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310797
property_value: exactMatch Orphanet:466806

[Term]
id: MONDO:0014831
name: progeroid and marfanoid aspect-lipodystrophy syndrome
subset: ordo_disease {source="Orphanet:300382"}
synonym: "Marfan lipodystrophy syndrome" EXACT [OMIM:616914]
synonym: "Marfan lipodystrophy syndrome; MFLS" RELATED [OMIM:616914]
synonym: "Marfan-progeroid-lipodystrophy syndrome" RELATED [OMIM:616914]
synonym: "Marfanoid-progeroid syndrome" RELATED [OMIM:616914]
synonym: "MFLS" RELATED [OMIM:616914]
xref: ICD10:E88.1 {source="ORDO:300382/attributed", source="ORDO:300382/ntbt", source="Orphanet:300382"}
xref: OMIM:616914 {source="MONDO:equivalentTo", source="ORDO:300382/e", source="Orphanet:300382"}
xref: Orphanet:300382 {source="MONDO:equivalentTo"}
xref: UMLS:C4310796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:300382"} ! systemic disease
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:300382"} ! genetic systemic or rheumatologic disease
property_value: exactMatch http://identifiers.org/omim/616914
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310796
property_value: exactMatch Orphanet:300382

[Term]
id: MONDO:0014832
name: intellectual disability, autosomal recessive 53
alt_id: MONDO:0024253
subset: ordo_disease
synonym: "congenital disorder of glycosylation due to PIGG deficiency" EXACT [Orphanet:488635]
synonym: "early-onset epilepsy-intellectual disability-brain anomalies syndrome" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 13" EXACT [OMIM:616917]
synonym: "GPIBD13" EXACT [OMIM:616917]
synonym: "mental retardation, autosomal recessive 53" EXACT [OMIM:616917]
synonym: "mental retardation, autosomal recessive 53; MRT53" RELATED [OMIM:616917]
synonym: "mental retardation, autosomal recessive type 53" EXACT [MONDORULE:2, OMIM:616917]
synonym: "MRT53" EXACT [OMIM:616917]
synonym: "PIGG-CDG" EXACT [Orphanet:488635]
xref: OMIM:616917 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="Orphanet:488635"}
xref: Orphanet:488635 {source="MONDO:equivalentTo"}
xref: UMLS:C4310794 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488635", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:488635"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018287 {source="Orphanet:488635"} ! congenital disorder of glycosylation with epilepsy as a major feature
relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:616917", source="OMIM:616917"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/616917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310794
property_value: exactMatch Orphanet:488635

[Term]
id: MONDO:0014833
name: heart and brain malformation syndrome
synonym: "HBMS" EXACT ABBREVIATION [MONDOLEX:0014833]
synonym: "HBMS" RELATED [OMIM:616920]
synonym: "heart and brain malformation syndrome" EXACT [OMIM:616920]
synonym: "heart and brain malformation syndrome; HBMS" EXACT [MONDOLEX:0014833]
xref: OMIM:616920 {source="MONDO:equivalentTo"}
xref: UMLS:C4310793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310793

[Term]
id: MONDO:0014834
name: dyskinesia, limb and orofacial, infantile-onset
synonym: "dyskinesia, limb and orofacial, infantile-onset" EXACT [OMIM:616921]
synonym: "dyskinesia, limb and orofacial, infantile-onset; IOLOD" EXACT [MONDOLEX:0014834]
synonym: "IOLOD" EXACT ABBREVIATION [MONDOLEX:0014834, OMIM:616921]
xref: OMIM:616921 {source="MONDO:equivalentTo"}
xref: UMLS:C4310792 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310792

[Term]
id: MONDO:0014835
name: striatal degeneration, autosomal dominant 2
def: "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADSD2" EXACT ABBREVIATION [MONDOLEX:0014835, OMIM:616922]
synonym: "PDE10A striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "striatal Degeneration, autosomal dominant 2" EXACT [OMIM:616922]
synonym: "striatal degeneration, autosomal dominant 2; ADSD2" EXACT [MONDOLEX:0014835]
synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE10A" EXACT [MONDO:design_pattern]
synonym: "striatal Degeneration, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616922]
xref: OMIM:616922 {source="MONDO:equivalentTo"}
xref: UMLS:C4310791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000211 {source="DC-OMIM:616922", source="MONDO:Redundant", source="OMIM:616922"} ! striatal degeneration, autosomal dominant
property_value: exactMatch http://identifiers.org/omim/616922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310791

[Term]
id: MONDO:0014836
name: Charcot-Marie-Tooth disease axonal type 2CC
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Charcot-Marie-Tooth disease caused by mutation in NEFH" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2cc" EXACT [OMIM:616924]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC; CMT2CC" RELATED [OMIM:616924]
synonym: "Charcot-Marie-Tooth neuropathy type 2CC" EXACT [DOID:0110180]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Cc" RELATED [OMIM:616924]
synonym: "CMT2CC" EXACT [DOID:0110180, OMIM:616924]
synonym: "NEFH Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110180 {source="MONDO:equivalentTo"}
xref: OMIM:616924 {source="DOID:0110180", source="MONDO:equivalentTo"}
xref: UMLS:C4310790 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110180"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch DOID:0110180
property_value: exactMatch http://identifiers.org/omim/616924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310790

[Term]
id: MONDO:0014837
name: hereditary thrombocytopenia with early-onset myelofibrosis
subset: ordo_disease {source="Orphanet:480851"}
synonym: "THC6" RELATED [OMIM:616937]
synonym: "thrombocytopenia 6" EXACT [OMIM:616937]
synonym: "thrombocytopenia 6; THC6" RELATED [OMIM:616937]
synonym: "thrombocytopenia type 6" EXACT [MONDORULE:1, OMIM:616937]
synonym: "thrombocytopenia, autosomal dominant, 6" RELATED [OMIM:616937]
xref: OMIM:616937 {source="MONDO:equivalentTo", source="Orphanet:480851"}
xref: Orphanet:480851 {source="MONDO:equivalentTo"}
xref: UMLS:C4310789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018795 {source="Orphanet:480851"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0020076 {source="Orphanet:480851"} ! myeloproliferative neoplasm
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/616937
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310789
property_value: exactMatch Orphanet:480851

[Term]
id: MONDO:0014838
name: Coffin-Siris syndrome 5
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Coffin-Siris syndrome 5" EXACT [OMIM:616938]
synonym: "COFFIN-SIRIS syndrome 5; CSS5" RELATED [OMIM:616938]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCE1" EXACT [MONDO:design_pattern]
synonym: "Coffin-Siris syndrome type 5" EXACT [MONDORULE:1, OMIM:616938]
synonym: "CSS5" RELATED [OMIM:616938]
synonym: "SMARCE1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616938 {source="MONDO:equivalentTo"}
xref: UMLS:C4310788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="OMIM:616938", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome
property_value: exactMatch http://identifiers.org/omim/616938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310788

[Term]
id: MONDO:0014839
name: chorea, childhood-onset, with psychomotor retardation
synonym: "chorea, childhood-onset, with psychomotor retardation" EXACT [OMIM:616939]
synonym: "chorea, childhood-onset, with psychomotor retardation; COCPMR" EXACT [MONDOLEX:0014839]
synonym: "COCPMR" EXACT ABBREVIATION [MONDOLEX:0014839, OMIM:616939]
xref: OMIM:616939 {source="MONDO:equivalentTo"}
xref: UMLS:C4310787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310787

[Term]
id: MONDO:0014840
name: agammaglobulinemia 8, autosomal dominant
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [OMIM:616941]
synonym: "agammaglobulinemia 8, autosomal dominant; AGM8" EXACT [MONDOLEX:0014840]
synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" RELATED [OMIM:616941]
synonym: "AGM8" EXACT ABBREVIATION [MONDOLEX:0014840]
synonym: "AGM8" RELATED [OMIM:616941]
synonym: "autosomal agammaglobulinemia caused by mutation in TCF3" EXACT [MONDO:design_pattern]
synonym: "TCF3 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616941 {source="MONDO:equivalentTo"}
xref: UMLS:C4310786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia
property_value: exactMatch http://identifiers.org/omim/616941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310786

[Term]
id: MONDO:0014841
name: trichothiodystrophy 6, nonphotosensitive
def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GTF2E2 nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2" EXACT [MONDO:design_pattern]
synonym: "trichothiodystrophy 6, nonphotosensitive" EXACT [OMIM:616943]
synonym: "trichothiodystrophy 6, nonphotosensitive; TTD6" EXACT [MONDOLEX:0014841]
synonym: "TTD6" EXACT ABBREVIATION [MONDOLEX:0014841]
synonym: "TTD6" RELATED [OMIM:616943]
xref: OMIM:616943 {source="MONDO:equivalentTo"}
xref: UMLS:C4310785 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009317 {source="MONDO:Redundant"} ! nonphotosensitive trichothiodystrophy
property_value: exactMatch http://identifiers.org/omim/616943
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310785

[Term]
id: MONDO:0014842
name: intellectual disability, autosomal dominant 41
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant mental retardation 41" EXACT [DOID:0070071]
synonym: "autosomal dominant non-syndromic intellectual disability 41" RELATED [DOID:0070071]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal dominant 41; MRD41" EXACT [MONDOLEX:0014842]
synonym: "mental retardation, autosomal dominant 41" EXACT [OMIM:616944]
synonym: "mental retardation, autosomal dominant 41; MRD41" RELATED [OMIM:616944]
synonym: "mental retardation, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:616944]
synonym: "MRD41" EXACT ABBREVIATION [DOID:0070071, MONDOLEX:0014842, OMIM:616944]
synonym: "TBL1XR1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070071 {source="MONDO:equivalentTo"}
xref: OMIM:616944 {source="MONDO:equivalentTo", source="DOID:0070071"}
xref: UMLS:C4310784 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616944", source="DOID:0070071", source="MONDO:Redundant", source="OMIM:616944"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070071
property_value: exactMatch http://identifiers.org/omim/616944
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310784

[Term]
id: MONDO:0014843
name: premature ovarian failure 11
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ERCC6 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF11" EXACT ABBREVIATION [MONDOLEX:0014843, OMIM:616946]
synonym: "premature ovarian failure 11" EXACT [OMIM:616946]
synonym: "premature ovarian failure 11; POF11" EXACT [MONDOLEX:0014843]
synonym: "premature ovarian failure type 11" EXACT [MONDORULE:2, OMIM:616946]
synonym: "primary ovarian failure caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
xref: OMIM:616946 {source="MONDO:equivalentTo"}
xref: UMLS:C4310783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/616946
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310783

[Term]
id: MONDO:0014844
name: premature ovarian failure 12
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "POF12" EXACT ABBREVIATION [MONDOLEX:0014844, OMIM:616947]
synonym: "premature ovarian failure 12" EXACT [OMIM:616947]
synonym: "premature ovarian failure 12; POF12" EXACT [MONDOLEX:0014844]
synonym: "premature ovarian failure type 12" EXACT [MONDORULE:2, OMIM:616947]
synonym: "primary ovarian failure caused by mutation in SYCE1" EXACT [MONDO:design_pattern]
synonym: "SYCE1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616947 {source="MONDO:equivalentTo"}
xref: UMLS:C4310782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/616947
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310782

[Term]
id: MONDO:0014845
name: spinocerebellar ataxia, autosomal recessive 22
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive cerebellar ataxia caused by mutation in VWA3B" EXACT [MONDO:design_pattern]
synonym: "SCAR22" EXACT ABBREVIATION [MONDOLEX:0014845, OMIM:616948]
synonym: "spinocerebellar ataxia, autosomal recessive 22" EXACT [OMIM:616948]
synonym: "spinocerebellar ataxia, autosomal recessive 22; SCAR22" EXACT [MONDOLEX:0014845]
synonym: "spinocerebellar ataxia, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:616948]
synonym: "VWA3B autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616948 {source="MONDO:equivalentTo"}
xref: UMLS:C4310781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="MONDO:Redundant", source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/616948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310781

[Term]
id: MONDO:0014846
name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
subset: ordo_disease {source="Orphanet:404493"}
synonym: "SCAR23" EXACT [OMIM:616949, Orphanet:404493]
synonym: "spinocerebellar ataxia autosomal recessive type 23" EXACT [Orphanet:404493]
synonym: "spinocerebellar ataxia, autosomal recessive 23" EXACT [OMIM:616949]
synonym: "spinocerebellar ataxia, autosomal recessive 23; SCAR23" RELATED [OMIM:616949]
synonym: "spinocerebellar ataxia, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:616949]
xref: ICD10:G11.1 {source="ORDO:404493/attributed", source="ORDO:404493/ntbt", source="Orphanet:404493"}
xref: OMIM:616949 {source="MONDO:equivalentTo", source="ORDO:404493/e", source="Orphanet:404493"}
xref: Orphanet:404493 {source="MONDO:equivalentTo"}
xref: UMLS:C4310780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018446 {source="MONDOLEX:0014846", source="Orphanet:404493"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/616949
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310780
property_value: exactMatch Orphanet:404493

[Term]
id: MONDO:0014847
name: spermatogenic failure 15
def: "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in SYCE1" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 15" EXACT [OMIM:616950]
synonym: "spermatogenic failure 15; SPGF15" EXACT [MONDOLEX:0014847]
synonym: "spermatogenic failure type 15" EXACT [MONDORULE:2, OMIM:616950]
synonym: "SPGF15" EXACT ABBREVIATION [MONDOLEX:0014847, OMIM:616950]
synonym: "SYCE1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070172 {source="MONDO:equivalentTo"}
xref: OMIM:616950 {source="MONDO:equivalentTo"}
xref: UMLS:C4310779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:616950", source="MONDO:Redundant", source="OMIM:616950"} ! azoospermia
is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation
property_value: exactMatch DOID:0070172
property_value: exactMatch http://identifiers.org/omim/616950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310779

[Term]
id: MONDO:0014848
name: TELO2-related intellectual disability-neurodevelopmental disorder
subset: ordo_malformation_syndrome
synonym: "YHFS" RELATED [OMIM:616954]
synonym: "you-Hoover-Fong syndrome" EXACT [OMIM:616954, Orphanet:488642]
synonym: "you-Hoover-Fong syndrome; YHFS" RELATED [OMIM:616954]
xref: EFO:0009061 {source="MONDO:equivalentTo"}
xref: OMIM:616954 {source="Orphanet:488642", source="MONDO:equivalentTo"}
xref: Orphanet:488642 {source="MONDO:equivalentTo"}
xref: UMLS:C4310778 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:488642", source="Orphanet:494344", source="Orphanet:495818", source="Orphanet:495875"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:494439"} ! malformation syndrome with short stature
is_a: MONDO:0015368 {source="Orphanet:488642"} ! neuro-ophthalmological disease
is_a: MONDO:0015620 {source="Orphanet:495875"} ! syndromic urogenital tract malformation
is_a: MONDO:0015652 {source="Orphanet:495818"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016908 {source="Orphanet:495818"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0017118 {source="Orphanet:495875"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019066 {source="Orphanet:494439"} ! syndrome with brachydactyly
is_a: MONDO:0019285 {source="Orphanet:495818"} ! syndromic nail anomaly
is_a: MONDO:0019589 {source="Orphanet:494439"} ! syndromic genetic deafness
is_a: MONDO:0019712 {source="Orphanet:495818"} ! patellar dysostosis
is_a: MONDO:0020215 {source="Orphanet:495875"} ! syndromic corneal dystrophy
is_a: MONDO:0020240 {source="Orphanet:494439"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020274 {source="Orphanet:495818"} ! onycho-patellar syndrome with eye involvement
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:494439"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/616954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310778
property_value: exactMatch Orphanet:488642

[Term]
id: MONDO:0014849
name: autosomal recessive nonsyndromic deafness 105
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CDC14A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 105" EXACT [DOID:0110466]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CDC14A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 105" EXACT [DOID:0110466, MONDORULE:2]
synonym: "CDC14A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 105" EXACT [OMIM:616958]
synonym: "deafness, autosomal recessive 105; DFNB105" RELATED [OMIM:616958]
synonym: "deafness, autosomal recessive type 105" EXACT [MONDORULE:2, OMIM:616958]
synonym: "DFNB105" EXACT [DOID:0110466, OMIM:616958]
xref: DOID:0110466 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110466"}
xref: OMIM:616958 {source="MONDO:equivalentTo", source="DOID:0110466"}
xref: UMLS:C4310777 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DC-OMIM:616958", source="DOID:0110466", source="MONDO:Redundant", source="OMIM:616958"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch DOID:0110466
property_value: exactMatch http://identifiers.org/omim/616958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310777

[Term]
id: MONDO:0014850
name: retinitis pigmentosa and erythrocytic microcytosis
synonym: "retinitis pigmentosa and erythrocytic microcytosis" EXACT [OMIM:616959]
synonym: "retinitis pigmentosa and erythrocytic microcytosis; RPEM" EXACT [MONDOLEX:0014850]
synonym: "RPEM" EXACT ABBREVIATION [MONDOLEX:0014850]
synonym: "RPEM" RELATED [OMIM:616959]
xref: OMIM:616959 {source="MONDO:equivalentTo"}
xref: UMLS:C4310776 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310776

[Term]
id: MONDO:0014851
name: hypercalcemia, infantile 2
def: "Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1" EXACT [MONDO:design_pattern]
synonym: "HCINF2" EXACT [OMIM:616963]
synonym: "hypercalcemia, infantile, 2" EXACT [OMIM:616963]
synonym: "hypercalcemia, infantile, type 2" EXACT [MONDORULE:1, OMIM:616963]
synonym: "SLC34A1 autosomal recessive infantile hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616963 {source="MONDO:equivalentTo"}
xref: UMLS:C4310473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN262351 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN774236 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN847585 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007749 {source="MONDO:Redundant", source="MONDOLEX:0014851", source="ORDO:300547/btnt"} ! autosomal recessive infantile hypercalcemia
property_value: exactMatch http://identifiers.org/omim/616963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN262351
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN774236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN847585

[Term]
id: MONDO:0014852
name: palmoplantar carcinoma, multiple self-healing
synonym: "moved to 615225" RELATED [OMIM:616964]
synonym: "MSPC" EXACT ABBREVIATION [MONDOLEX:0014852]
synonym: "MSPC" RELATED [OMIM:616964]
synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964]
synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT [MONDOLEX:0014852]
xref: OMIM:616964 {source="MONDO:equivalentTo"}
xref: UMLS:C3808876 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3808876

[Term]
id: MONDO:0014853
name: autosomal dominant nonsyndromic deafness 70
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 70" EXACT [DOID:0110592]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MCM2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 70" EXACT [DOID:0110592, MONDORULE:2]
synonym: "deafness, autosomal dominant 70" EXACT [OMIM:616968]
synonym: "deafness, autosomal dominant 70; DFNA70" RELATED [OMIM:616968]
synonym: "deafness, autosomal dominant type 70" EXACT [MONDORULE:2, OMIM:616968]
synonym: "DFNA70" EXACT [DOID:0110592, OMIM:616968]
synonym: "MCM2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110592 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110592"}
xref: OMIM:616968 {source="MONDO:equivalentTo", source="DOID:0110592"}
xref: UMLS:C4310775 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616968", source="DOID:0110592", source="MONDO:Redundant", source="OMIM:616968"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110592
property_value: exactMatch http://identifiers.org/omim/616968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310775

[Term]
id: MONDO:0014854
name: autosomal dominant nonsyndromic deafness 66
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 66" EXACT [DOID:0110587]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CD164" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 66" EXACT [DOID:0110587, MONDORULE:2]
synonym: "CD164 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 66" EXACT [OMIM:616969]
synonym: "deafness, autosomal dominant 66; DFNA66" RELATED [OMIM:616969]
synonym: "deafness, autosomal dominant type 66" EXACT [MONDORULE:2, OMIM:616969]
synonym: "DFNA66" EXACT [DOID:0110587, OMIM:616969]
xref: DOID:0110587 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="DOID:0110587"}
xref: OMIM:616969 {source="MONDO:equivalentTo", source="DOID:0110587"}
xref: UMLS:C4283893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DC-OMIM:616969", source="DOID:0110587", source="MONDO:Redundant", source="OMIM:616969"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch DOID:0110587
property_value: exactMatch http://identifiers.org/omim/616969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4283893

[Term]
id: MONDO:0014855
name: intellectual disability, autosomal dominant 42
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: check status as syndromic
synonym: "autosomal dominant mental retardation 42" EXACT [DOID:0070072]
synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [DOID:0070072]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1" EXACT [MONDO:design_pattern]
synonym: "GNB1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Gnb1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 42" EXACT [OMIM:616973]
synonym: "mental retardation, autosomal dominant 42; MRD42" RELATED [OMIM:616973]
synonym: "mental retardation, autosomal dominant type 42" EXACT [MONDORULE:2, OMIM:616973]
synonym: "MRD42" EXACT [DOID:0070072, OMIM:616973]
xref: DOID:0070072 {source="MONDO:equivalentTo"}
xref: OMIM:616973 {source="MONDO:equivalentTo", source="DOID:0070072"}
xref: UMLS:C4310774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616973", source="DOID:0070072", source="MONDO:Redundant", source="OMIM:616973"} ! autosomal dominant non-syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0024252 {source="Orphanet:488613"} ! global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
property_value: exactMatch DOID:0070072
property_value: exactMatch http://identifiers.org/omim/616973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310774

[Term]
id: MONDO:0014856
name: combined oxidative phosphorylation defect type 30
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:478042"}
synonym: "combined oxidative phosphorylation deficiency 30" EXACT [OMIM:616974]
synonym: "combined oxidative phosphorylation deficiency 30; COXPD30" RELATED [OMIM:616974]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 30" EXACT [MONDORULE:2, OMIM:616974]
synonym: "COXPD30" EXACT [OMIM:616974, Orphanet:478042]
synonym: "TRMT10C combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:0009038 {source="MONDO:equivalentTo"}
xref: OMIM:616974 {source="MONDO:equivalentTo", source="Orphanet:478042"}
xref: Orphanet:478042 {source="MONDO:equivalentTo"}
xref: UMLS:C4310773 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:616974", source="MONDO:Redundant", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="EFO:0009038", source="Orphanet:478042"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019058 {source="Orphanet:478042"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/omim/616974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310773
property_value: exactMatch Orphanet:478042

[Term]
id: MONDO:0014857
name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
synonym: "NEDBEH" EXACT ABBREVIATION [MONDOLEX:0014857, OMIM:616975]
synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" EXACT [OMIM:616975]
synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" EXACT [MONDOLEX:0014857]
synonym: "rere-related neurodevelopmental syndrome" EXACT [Orphanet:494344]
xref: MONDO:0044630 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:616975 {source="MONDO:equivalentTo"}
xref: Orphanet:494344 {source="MONDO:equivalentTo"}
xref: UMLS:C4310772 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/616975
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310772
property_value: exactMatch Orphanet:494344

[Term]
id: MONDO:0014858
name: intellectual disability, autosomal dominant 43
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant intellectual disability-43" RELATED [GARD:0013179]
synonym: "autosomal dominant mental retardation 43" EXACT [DOID:0070073]
synonym: "autosomal dominant non-syndromic intellectual disability 43" RELATED [DOID:0070073]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2" EXACT [MONDO:design_pattern]
synonym: "HIVEP2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HIVEP2-related intellectual disability" RELATED [GARD:0013179]
synonym: "mental retardation, autosomal dominant 43" EXACT [OMIM:616977]
synonym: "mental retardation, autosomal dominant 43; MRD43" RELATED [OMIM:616977]
synonym: "mental retardation, autosomal dominant type 43" EXACT [MONDORULE:2, OMIM:616977]
synonym: "MRD43" EXACT [DOID:0070073, OMIM:616977]
xref: DOID:0070073 {source="MONDO:equivalentTo"}
xref: GARD:0013179 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:616977 {source="MONDO:equivalentTo", source="DOID:0070073"}
xref: SCTID:765434008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310771 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DC-OMIM:616977", source="DOID:0070073", source="MONDO:Redundant", source="OMIM:616977"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070073
property_value: exactMatch http://identifiers.org/omim/616977
property_value: exactMatch http://identifiers.org/snomedct/765434008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310771

[Term]
id: MONDO:0014859
name: epileptic encephalopathy, early infantile, 37
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in FRRS1L" EXACT [MONDO:design_pattern]
synonym: "EIEE37" EXACT ABBREVIATION [MONDOLEX:0014859, OMIM:616981]
synonym: "epileptic encephalopathy, early infantile, 37" EXACT [OMIM:616981]
synonym: "epileptic encephalopathy, early infantile, 37; EIEE37" EXACT [MONDOLEX:0014859]
synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2, OMIM:616981]
synonym: "FRRS1L early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616981 {source="MONDO:equivalentTo"}
xref: UMLS:C4310770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:616981", source="MONDO:Redundant", source="OMIM:616981"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/616981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310770

[Term]
id: MONDO:0014860
name: polycystic liver disease 2
synonym: "PCLD2" EXACT ABBREVIATION [MONDOLEX:0014860, OMIM:617004]
synonym: "polycystic liver disease 2" EXACT [OMIM:617004]
synonym: "polycystic liver disease 2 with or without kidney cysts" RELATED [OMIM:617004]
synonym: "polycystic liver disease 2 with or without kidney cysts; PCLD2" RELATED [OMIM:617004]
synonym: "polycystic liver disease 2; PCLD2" EXACT [MONDOLEX:0014860]
synonym: "polycystic liver disease type 2" EXACT [MONDORULE:1, OMIM:617004]
xref: OMIM:617004 {source="MONDO:equivalentTo"}
xref: UMLS:C4310769 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000447 {source="MONDO:0014860/inferred", source="MONDO:Redundant", source="MONDOLEX:0014860/inferred", source="OMIM:617004", source="indirect"} ! autosomal dominant polycystic liver disease
relationship: excluded_subClassOf MONDO:0008265 {source="MONDOLEX:0014860", source="ORDO:2924/btnt"} ! polycystic liver disease 1
property_value: exactMatch http://identifiers.org/omim/617004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310769

[Term]
id: MONDO:0014861
name: autoimmune disease, multisystem, infantile-onset, 2
def: "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADMIO2" EXACT ABBREVIATION [MONDOLEX:0014861, OMIM:617006]
synonym: "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, multisystem, infantile-onset, 2" EXACT [OMIM:617006]
synonym: "autoimmune disease, multisystem, infantile-onset, 2; ADMIO2" EXACT [MONDOLEX:0014861]
synonym: "autoimmune disease, multisystem, infantile-onset, type 2" EXACT [MONDORULE:1, OMIM:617006]
synonym: "ZAP70 autoimmune disease, multisystem, infantile-onset" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617006 {source="MONDO:equivalentTo"}
xref: UMLS:C4310768 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000213 {source="DC-OMIM:617006", source="MONDO:Redundant", source="MONDOLEX:0014861", source="OMIM:617006"} ! autoimmune disease, multisystem, infantile-onset
property_value: exactMatch http://identifiers.org/omim/617006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310768

[Term]
id: MONDO:0014862
name: cerebral palsy, spastic quadriplegic, 3
def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADD3 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cerebral palsy, spastic quadriplegic, 3" EXACT [OMIM:617008]
synonym: "cerebral palsy, spastic quadriplegic, 3; CPSQ3" EXACT [MONDOLEX:0014862]
synonym: "cerebral palsy, spastic quadriplegic, type 3" EXACT [MONDORULE:1, OMIM:617008]
synonym: "CPSQ3" EXACT ABBREVIATION [MONDOLEX:0014862, OMIM:617008]
synonym: "spastic quadriplegia caused by mutation in ADD3" EXACT [MONDO:design_pattern]
xref: OMIM:617008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310767 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016215 {source="DC-OMIM:617008", source="MONDO:Redundant", source="OMIM:617008"} ! spastic quadriplegia
property_value: exactMatch http://identifiers.org/omim/617008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310767

[Term]
id: MONDO:0014863
name: macrocephaly, dysmorphic facies, and psychomotor retardation
synonym: "macrocephaly, dysmorphic facies, and psychomotor retardation" EXACT [OMIM:617011]
synonym: "macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR" EXACT [MONDOLEX:0014863]
synonym: "MDFPMR" EXACT ABBREVIATION [MONDOLEX:0014863, OMIM:617011]
xref: OMIM:617011 {source="MONDO:equivalentTo"}
xref: UMLS:C4310766 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310766

[Term]
id: MONDO:0014864
name: hypermanganesemia with dystonia 2
def: "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease
synonym: "HMNDYT2" EXACT ABBREVIATION [MONDOLEX:0014864, OMIM:617013]
synonym: "hypermanganesemia with dystonia 2" EXACT [OMIM:617013]
synonym: "hypermanganesemia with dystonia 2; HMNDYT2" EXACT [MONDOLEX:0014864]
synonym: "hypermanganesemia with dystonia caused by mutation in SLC39A14" EXACT [MONDO:design_pattern]
synonym: "hypermanganesemia with dystonia type 2" EXACT [MONDORULE:1, OMIM:617013]
synonym: "SLC39A14 hypermanganesemia with dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617013 {source="MONDO:equivalentTo", source="Orphanet:521406"}
xref: Orphanet:521406 {source="MONDO:equivalentTo"}
xref: SCTID:768554008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310765 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000214 {source="DC-OMIM:617013", source="MONDO:Redundant", source="OMIM:617013"} ! hypermanganesemia with dystonia
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017766 {source="Orphanet:521406"} ! disorder of manganese transport
is_a: MONDO:0018329 {source="Orphanet:521406"} ! persistent combined dystonia
property_value: exactMatch http://identifiers.org/omim/617013
property_value: exactMatch http://identifiers.org/snomedct/768554008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310765
property_value: exactMatch Orphanet:521406

[Term]
id: MONDO:0014865
name: autosomal recessive severe congenital neutropenia due to CSF3R deficiency
subset: ordo_disease {source="Orphanet:420702"}
synonym: "neutropenia, Severe congenital, 7, autosomal recessive" EXACT [OMIM:617014]
synonym: "neutropenia, severe congenital, 7, autosomal recessive; SCN7" RELATED [OMIM:617014]
synonym: "SCN7" RELATED [OMIM:617014]
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:420702/attributed", source="ORDO:420702/ntbt", source="Orphanet:420702"}
xref: OMIM:617014 {source="MONDO:equivalentTo", source="Orphanet:420702", source="ORDO:420702/e"}
xref: Orphanet:420702 {source="MONDO:equivalentTo"}
xref: UMLS:C4310764 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: exactMatch http://identifiers.org/omim/617014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310764
property_value: exactMatch Orphanet:420702

[Term]
id: MONDO:0014866
name: Charcot-Marie-Tooth disease axonal type 2T
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." [DOID:0110160, PMID:26991897]
subset: ordo_disease {source="Orphanet:443950"}
synonym: "AR-CMT2T" EXACT [DOID:0110160, Orphanet:443950]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [DOID:0110160, Orphanet:443950]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T" RELATED [OMIM:617017]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2t" EXACT [OMIM:617017]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2T; CMT2T" RELATED [OMIM:617017]
synonym: "Charcot-Marie-Tooth neuropathy type 2T" EXACT [DOID:0110160]
synonym: "Charcot-Marie-Tooth neuropathy, type 2T" RELATED [OMIM:617017]
synonym: "CMT2T" EXACT [DOID:0110160, OMIM:617017, Orphanet:443950]
synonym: "DNAJB2-related Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:443950]
synonym: "DNAJB2-related CMT2" EXACT [Orphanet:443950]
xref: DOID:0110160 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:443950", source="DOID:0110160", source="ORDO:443950/attributed", source="ORDO:443950/ntbt"}
xref: OMIM:617017 {source="Orphanet:443950", source="MONDO:equivalentTo", source="DOID:0110160", source="ORDO:443950/btnt"}
xref: Orphanet:443950 {source="MONDO:equivalentTo", source="DOID:0110160"}
xref: UMLS:C4015635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="DOID:0110160"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0014866", source="Orphanet:443950"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: closeMatch http://identifiers.org/omim/616233
property_value: exactMatch DOID:0110160
property_value: exactMatch http://identifiers.org/omim/617017
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4015635
property_value: exactMatch Orphanet:443950

[Term]
id: MONDO:0014867
name: spinocerebellar ataxia 43
def: "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." [Orphanet:497764]
synonym: "autosomal dominant cerebellar ataxia caused by mutation in MME" EXACT [MONDO:design_pattern]
synonym: "MME autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCA43" EXACT ABBREVIATION [MONDOLEX:0014867, OMIM:617018]
synonym: "spinocerebellar ataxia 43" EXACT [OMIM:617018]
synonym: "spinocerebellar ataxia 43; SCA43" EXACT [MONDOLEX:0014867]
synonym: "spinocerebellar ataxia type 43" EXACT [MONDORULE:2, OMIM:617018]
xref: EFO:0009060 {source="MONDO:equivalentTo"}
xref: OMIM:617018 {source="MONDO:equivalentTo"}
xref: Orphanet:497764 {source="MONDO:equivalentTo"}
xref: UMLS:C4310763 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DC-OMIM:617018", source="EFO:0009060/inferred", source="MONDO:Redundant", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/617018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310763
property_value: exactMatch Orphanet:497764

[Term]
id: MONDO:0014868
name: epileptic encephalopathy, early infantile, 38
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARV1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in ARV1" EXACT [MONDO:design_pattern]
synonym: "EIEE38" EXACT ABBREVIATION [MONDOLEX:0014868, OMIM:617020]
synonym: "epileptic encephalopathy, early infantile, 38" EXACT [OMIM:617020]
synonym: "epileptic encephalopathy, early infantile, 38; EIEE38" EXACT [MONDOLEX:0014868]
synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2, OMIM:617020]
xref: OMIM:617020 {source="MONDO:equivalentTo"}
xref: UMLS:C4310762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617020", source="MONDO:Redundant", source="OMIM:617020"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310762

[Term]
id: MONDO:0014869
name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
subset: ordo_disease
synonym: "HLASA" EXACT [OMIM:617021]
synonym: "hydrops, lactic acidosis, and sideroblastic anemia" EXACT [OMIM:617021]
synonym: "hydrops, lactic acidosis, and sideroblastic anemia; HLASA" RELATED [OMIM:617021]
xref: OMIM:617021 {source="MONDO:equivalentTo", source="Orphanet:528091"}
xref: Orphanet:528091 {source="MONDO:equivalentTo"}
xref: UMLS:C4310761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018157 {source="Orphanet:528091"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
property_value: exactMatch http://identifiers.org/omim/617021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310761
property_value: exactMatch Orphanet:528091

[Term]
id: MONDO:0014870
name: NEK9-related lethal skeletal dysplasia
def: "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated." [Orphanet:464366]
subset: ordo_malformation_syndrome {source="Orphanet:464366"}
synonym: "LCCS10" EXACT [OMIM:617022]
synonym: "lethal congenital contracture syndrome 10" EXACT [OMIM:617022]
synonym: "lethal congenital contracture syndrome 10; LCCS10" RELATED [OMIM:617022]
synonym: "lethal congenital contracture syndrome type 10" EXACT [MONDORULE:2, OMIM:617022]
synonym: "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" EXACT [Orphanet:464366]
xref: ICD10:Q77.2 {source="Orphanet:464366", source="ORDO:464366/attributed", source="ORDO:464366/ntbt"}
xref: OMIM:617022 {source="Orphanet:464366", source="ORDO:464366/e", source="MONDO:equivalentTo"}
xref: Orphanet:464366 {source="MONDO:equivalentTo"}
xref: UMLS:C4310760 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015929 {source="Orphanet:464366"} ! thoracic malformation
is_a: MONDO:0017436 {source="DC-OMIM:617022", source="OMIM:617022"} ! lethal congenital contracture syndrome
is_a: MONDO:0019691 {source="Orphanet:464366"} ! short rib dysplasia
property_value: exactMatch http://identifiers.org/omim/617022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310760
property_value: exactMatch Orphanet:464366

[Term]
id: MONDO:0014871
name: retinitis pigmentosa 75
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AGBL5 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 75" EXACT [OMIM:617023]
synonym: "retinitis pigmentosa 75; RP75" RELATED [OMIM:617023]
synonym: "retinitis pigmentosa caused by mutation in AGBL5" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 75" EXACT [DOID:0110361, MONDORULE:2, OMIM:617023]
synonym: "RP75" EXACT [DOID:0110361, OMIM:617023]
xref: DOID:0110361 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110361"}
xref: OMIM:617023 {source="MONDO:equivalentTo", source="DOID:0110361"}
xref: UMLS:C4310759 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:617023", source="DOID:0110361", source="MONDO:Redundant", source="OMIM:617023"} ! retinitis pigmentosa
property_value: exactMatch DOID:0110361
property_value: exactMatch http://identifiers.org/omim/617023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310759

[Term]
id: MONDO:0014872
name: congenital stationary night blindness 1H
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness caused by mutation in GNB3" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1H" EXACT [DOID:0110866, MONDORULE:4]
synonym: "CSNB1H" EXACT [DOID:0110866, OMIM:617024]
synonym: "GNB3 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, type 1H" EXACT [OMIM:617024]
synonym: "night blindness, congenital stationary, type 1H; CSNB1H" RELATED [OMIM:617024]
xref: DOID:0110866 {source="MONDO:equivalentTo"}
xref: OMIM:617024 {source="DOID:0110866", source="MONDO:equivalentTo"}
xref: UMLS:C4310758 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016293 {source="DC-OMIM:617024", source="DOID:0110866", source="MONDO:Redundant", source="MONDOLEX:0014872", source="OMIM:617024"} ! congenital stationary night blindness
property_value: exactMatch DOID:0110866
property_value: exactMatch http://identifiers.org/omim/617024
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310758

[Term]
id: MONDO:0014873
name: nevus comedonicus syndrome
def: "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." [NCIT:C3946]
subset: ordo_disease {source="Orphanet:64754"}
synonym: "acne Nevus" EXACT [NCIT:C3946]
synonym: "acneiform Nevus" EXACT [NCIT:C3946]
synonym: "comedo Nevus" EXACT [NCIT:C3946]
synonym: "NC" RELATED [OMIM:617025]
synonym: "Nevus comedonicus" EXACT [OMIM:617025]
synonym: "NEVUS comedonicus; NC" RELATED [OMIM:617025]
synonym: "pilosebaceous nevoid disorder" EXACT [NCIT:C3946]
xref: GARD:0013073 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.5 {source="Orphanet:64754", source="ORDO:64754/ntbt", source="ORDO:64754/index"}
xref: NCIT:C3946 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:617025 {source="ORDO:64754/e", source="Orphanet:64754", source="MONDO:equivalentTo"}
xref: Orphanet:64754 {source="MONDO:equivalentTo"}
xref: SCTID:35962006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265987 {source="ORDO:64754/e", source="NCIT:C3946", source="NCBI:mim2gene_medline", source="Orphanet:64754", source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="Orphanet:64754"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:64754", source="indirect"} ! inherited skin tumor
property_value: exactMatch http://identifiers.org/omim/617025
property_value: exactMatch http://identifiers.org/snomedct/35962006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265987
property_value: exactMatch NCIT:C3946
property_value: exactMatch Orphanet:64754

[Term]
id: MONDO:0014874
name: pontocerebellar hypoplasia, type 2F
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15" EXACT [MONDO:design_pattern]
synonym: "PCH2F" EXACT ABBREVIATION [MONDOLEX:0014874, OMIM:617026]
synonym: "pontocerebellar hypoplasia, type 2F" EXACT [OMIM:617026]
synonym: "pontocerebellar hypoplasia, type 2F; PCH2F" EXACT [MONDOLEX:0014874]
synonym: "TSEN15 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617026 {source="MONDO:equivalentTo"}
xref: UMLS:C4310757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016759 {source="MONDOLEX:0014874", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2
property_value: exactMatch http://identifiers.org/omim/617026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310757

[Term]
id: MONDO:0014875
name: hyperaldosteronism, familial, type IV
synonym: "aldosteronism, primary, and hypertension" RELATED [OMIM:617027]
synonym: "FH 4" RELATED [OMIM:617027]
synonym: "HALD4" EXACT ABBREVIATION [MONDOLEX:0014875, OMIM:617027]
synonym: "hyperaldosteronism, familial, type 4" RELATED [OMIM:617027]
synonym: "hyperaldosteronism, familial, type IV" EXACT [OMIM:617027]
synonym: "hyperaldosteronism, familial, type IV; HALD4" EXACT [MONDOLEX:0014875]
xref: OMIM:617027 {source="MONDO:equivalentTo"}
xref: UMLS:C4310756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310756

[Term]
id: MONDO:0014876
name: intellectual disability, autosomal recessive 54
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 54; MRT54" EXACT [MONDOLEX:0014876]
synonym: "mental retardation, autosomal recessive 54" EXACT [OMIM:617028]
synonym: "mental retardation, autosomal recessive 54; MRT54" RELATED [OMIM:617028]
synonym: "mental retardation, autosomal recessive type 54" EXACT [MONDORULE:2, OMIM:617028]
synonym: "MRT54" EXACT ABBREVIATION [MONDOLEX:0014876, OMIM:617028]
synonym: "TNIK autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617028 {source="MONDO:equivalentTo"}
xref: UMLS:C4310755 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:617028", source="MONDO:Redundant", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310755

[Term]
id: MONDO:0014877
name: myopathy, distal, 5
def: "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADSSL1 distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "distal myopathy caused by mutation in ADSSL1" EXACT [MONDO:design_pattern]
synonym: "MPD5" EXACT ABBREVIATION [MONDOLEX:0014877]
synonym: "MPD5" RELATED [OMIM:617030]
synonym: "myopathy, distal, 5" EXACT [OMIM:617030]
synonym: "myopathy, distal, 5; MPD5" EXACT [MONDOLEX:0014877]
synonym: "myopathy, distal, type 5" EXACT [MONDORULE:1, OMIM:617030]
xref: OMIM:617030 {source="MONDO:equivalentTo"}
xref: UMLS:C4310754 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant"} ! distal myopathy
property_value: exactMatch http://identifiers.org/omim/617030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310754

[Term]
id: MONDO:0014878
name: patent ductus arteriosus 2
synonym: "patent ductus arteriosus 2" EXACT [OMIM:617035]
synonym: "patent ductus arteriosus 2; PDA2" EXACT [MONDOLEX:0014878]
synonym: "patent ductus arteriosus type 2" EXACT [MONDORULE:1, OMIM:617035]
synonym: "PDA2" EXACT ABBREVIATION [MONDOLEX:0014878]
synonym: "PDA2" RELATED [OMIM:617035]
xref: OMIM:617035 {source="MONDO:equivalentTo"}
xref: UMLS:C4284595 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011827 {source="DC-OMIM:617035", source="OMIM:617035"} ! patent ductus arteriosus
property_value: exactMatch http://identifiers.org/omim/617035
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284595

[Term]
id: MONDO:0014879
name: obsolete patent ductus arteriosus 3
is_obsolete: true
consider: MONDO:0024266

[Term]
id: MONDO:0014880
name: Duane retraction syndrome 3 with or without deafness
def: "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." [GARD:0010691]
subset: gard_rare
synonym: "Duane retraction syndrome 3" RELATED [GARD:0010691]
synonym: "Duane retraction syndrome 3 with or without deafness" EXACT [OMIM:617041]
synonym: "Duane retraction syndrome 3 with or without deafness; DURS3" RELATED [OMIM:617041]
synonym: "Duane retraction syndrome caused by mutation in MAFB" EXACT [MONDO:design_pattern]
synonym: "Duane syndrome type 3" RELATED [GARD:0010691]
synonym: "DURS3" EXACT [MONDO:cjm, OMIM:617041]
synonym: "MAFB Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010691 {source="MONDO:equivalentTo"}
xref: OMIM:617041 {source="MONDO:equivalentTo"}
xref: UMLS:C4310752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:617041", source="ORDO:233/btnt"} ! Duane retraction syndrome
property_value: exactMatch http://identifiers.org/omim/617041
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310752
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3 xsd:anyURI {source="GARD:0010691"}

[Term]
id: MONDO:0014881
name: transketolase deficiency
subset: ordo_malformation_syndrome
synonym: "SDDHD" RELATED [OMIM:617044]
synonym: "short stature, developmental delay, and congenital heart defects" RELATED [OMIM:617044]
synonym: "short stature, developmental delay, and congenital heart defects; SDDHD" RELATED [OMIM:617044]
synonym: "short stature-developmental delay-congenital heart defect syndrome" EXACT [Orphanet:488618]
synonym: "TKT deficiency" EXACT [Orphanet:488618]
xref: OMIM:617044 {source="MONDO:equivalentTo", source="Orphanet:488618"}
xref: Orphanet:488618 {source="MONDO:equivalentTo"}
xref: UMLS:C4310751 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488618", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:488618"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015329 {source="Orphanet:488618"} ! malformation syndrome with short stature
is_a: MONDO:0015506 {source="Orphanet:488618"} ! rare syndrome with cardiac malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019231 {source="Orphanet:488618"} ! inborn disorder of pentose phosphate metabolism
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310751
property_value: exactMatch Orphanet:488618

[Term]
id: MONDO:0014882
name: hereditary spastic paraplegia 77
def: "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." [Orphanet:466722]
subset: ordo_disease {source="Orphanet:466722"}
synonym: "autosomal recessive spastic paraplegia 77" EXACT [DOID:0110822]
synonym: "autosomal recessive spastic paraplegia type 77" RELATED [Orphanet:466722]
synonym: "FARS2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in FARS2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 77" EXACT [DOID:0110822, MONDORULE:2]
synonym: "spastic paraplegia 77, autosomal recessive" EXACT [OMIM:617046]
synonym: "spastic paraplegia 77, autosomal recessive; SPG77" RELATED [OMIM:617046]
synonym: "SPG77" EXACT [DOID:0110822, OMIM:617046, Orphanet:466722]
xref: DOID:0110822 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="DOID:0110822", source="Orphanet:466722", source="ORDO:466722/attributed", source="ORDO:466722/ntbt"}
xref: OMIM:617046 {source="DOID:0110822", source="Orphanet:466722", source="MONDO:equivalentTo"}
xref: Orphanet:466722 {source="DOID:0110822", source="MONDO:equivalentTo"}
xref: UMLS:C4310750 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:466722"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019064 {source="DC-OMIM:617046", source="DOID:0110822", source="MONDO:Redundant", source="MONDOLEX:0014882", source="OMIM:617046"} ! hereditary spastic paraplegia
property_value: exactMatch DOID:0110822
property_value: exactMatch http://identifiers.org/omim/617046
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310750
property_value: exactMatch Orphanet:466722

[Term]
id: MONDO:0014883
name: hypertrophic cardiomyopathy 26
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 26" EXACT [DOID:0110327]
synonym: "cardiomyopathy, familial hypertrophic, 26" EXACT [OMIM:617047]
synonym: "cardiomyopathy, familial hypertrophic, 26; CMH26" RELATED [OMIM:617047]
synonym: "cardiomyopathy, familial hypertrophic, type 26" EXACT [MONDORULE:2, OMIM:617047]
synonym: "cardiomyopathy, familial restrictive, 5" RELATED [OMIM:617047]
synonym: "CMH26" EXACT [DOID:0110327, OMIM:617047]
synonym: "FLNC hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic cardiomyopathy caused by mutation in FLNC" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 26" EXACT [DOID:0110327, MONDORULE:2]
xref: DOID:0110327 {source="MONDO:equivalentTo"}
xref: OMIM:617047 {source="DOID:0110327", source="MONDO:equivalentTo"}
xref: UMLS:C4310749 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="MONDOLEX:0014883", source="OMIM", source="OMIM:617047"} ! familial hypertrophic cardiomyopathy
property_value: exactMatch DOID:0110327
property_value: exactMatch http://identifiers.org/omim/617047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310749

[Term]
id: MONDO:0014884
name: cholestasis, progressive familial intrahepatic, 5
alt_id: MONDO:0018802
def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_clinical_subtype {source="Orphanet:480476"}
synonym: "cholestasis, progressive familial intrahepatic, 5" EXACT [OMIM:617049]
synonym: "cholestasis, progressive familial intrahepatic, 5; PFIC5" EXACT [MONDOLEX:0014884]
synonym: "cholestasis, progressive familial intrahepatic, type 5" EXACT [MONDORULE:1, OMIM:617049]
synonym: "NR1H4 deficiency" EXACT [Orphanet:480476]
synonym: "NR1H4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PFIC5" EXACT ABBREVIATION [MONDOLEX:0014884, OMIM:617049, Orphanet:480476]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in NR1H4" EXACT [MONDO:design_pattern]
xref: DOID:0070225 {source="MONDO:equivalentTo"}
xref: OMIM:617049 {source="MONDO:equivalentTo"}
xref: Orphanet:480476 {source="MONDO:equivalentTo", source="UMLS:CN776839"}
xref: UMLS:C4310747 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN776839 {source="MONDO:equivalentTo"}
is_a: MONDO:0015762 {source="MONDO:Redundant", source="MONDOLEX:0014884", source="MONDOLEX:0018802", source="OMIM:617049", source="Orphanet:480476"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch DOID:0070225
property_value: exactMatch http://identifiers.org/omim/617049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310747
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776839
property_value: exactMatch Orphanet:480476

[Term]
id: MONDO:0014885
name: Hermansky-Pudlak syndrome 10
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP3D1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 10" EXACT [OMIM:617050]
synonym: "Hermansky-Pudlak syndrome 10; HPS10" EXACT [MONDOLEX:0014885]
synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3D1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 10" EXACT [MONDORULE:2, OMIM:617050]
synonym: "HPS10" EXACT ABBREVIATION [MONDOLEX:0014885, OMIM:617050]
xref: OMIM:617050 {source="MONDO:equivalentTo"}
xref: UMLS:C4310746 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019312 {source="DC-OMIM:617050", source="MONDO:Redundant", source="OMIM:617050"} ! Hermansky-Pudlak syndrome
property_value: exactMatch http://identifiers.org/omim/617050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310746

[Term]
id: MONDO:0014886
name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
subset: ordo_malformation_syndrome
synonym: "mental retardation, autosomal recessive 55" EXACT [OMIM:617051]
synonym: "mental retardation, autosomal recessive 55; MRT55" RELATED [OMIM:617051]
synonym: "mental retardation, autosomal recessive type 55" EXACT [MONDORULE:2, OMIM:617051]
synonym: "MRT55" EXACT [OMIM:617051]
xref: OMIM:617051 {source="MONDO:equivalentTo", source="Orphanet:488627"}
xref: Orphanet:488627 {source="MONDO:equivalentTo"}
xref: UMLS:C4310745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488627", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:488627"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019289 {source="Orphanet:488627"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:617051", source="OMIM:617051"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617051
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310745
property_value: exactMatch Orphanet:488627

[Term]
id: MONDO:0014887
name: bone marrow failure syndrome 3
def: "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMFS3" EXACT [OMIM:617052]
synonym: "bone marrow failure syndrome 3" EXACT [OMIM:617052]
synonym: "bone marrow failure syndrome caused by mutation in DNAJC21" EXACT [MONDO:design_pattern]
synonym: "bone marrow failure syndrome type 3" EXACT [MONDORULE:1, OMIM:617052]
synonym: "DNAJC21 bone marrow failure syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617052 {source="MONDO:equivalentTo"}
xref: UMLS:C4310744 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000159 {source="DC-OMIM:617052", source="MONDO:Redundant", source="OMIM:617052"} ! bone marrow failure syndrome
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310744

[Term]
id: MONDO:0014888
name: MIRAGE syndrome
def: "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." [NCIT:C147530]
synonym: "mirage" EXACT [OMIM:617053]
synonym: "mirage syndrome" EXACT [NCIT:C147530, OMIM:617053]
synonym: "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" EXACT [GARD:0013108, NCIT:C147530, OMIM:617053]
synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" EXACT [Orphanet:494433]
synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" EXACT [Orphanet:494433]
xref: GARD:0013108 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: NCIT:C147530 {source="MONDO:equivalentTo"}
xref: OMIM:617053 {source="MONDO:equivalentTo"}
xref: Orphanet:494433 {source="MONDO:equivalentTo"}
xref: UMLS:C4284088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C147530"} ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284088
property_value: exactMatch NCIT:C147530
property_value: exactMatch Orphanet:494433

[Term]
id: MONDO:0014889
name: striatonigral degeneration, childhood-onset
subset: ordo_disease
synonym: "childhood-onset basal ganglia degeneration syndrome" EXACT [Orphanet:497906]
synonym: "Lenk-Ploski syndrome" EXACT [Orphanet:497906]
synonym: "SNDC" EXACT ABBREVIATION [MONDOLEX:0014889]
synonym: "SNDC" RELATED [OMIM:617054]
synonym: "striatonigral Degeneration, childhood-onset" EXACT [OMIM:617054]
synonym: "striatonigral degeneration, childhood-onset; SNDC" EXACT [MONDOLEX:0014889]
xref: OMIM:617054 {source="MONDO:equivalentTo", source="Orphanet:497906"}
xref: Orphanet:497906 {source="MONDO:equivalentTo"}
xref: UMLS:C4310743 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003122 {source="OMIM:617054"} ! striatonigral degeneration
is_a: MONDO:0018265 {source="Orphanet:497906"} ! rare disorder with dystonia and other neurologic or systemic manifestation
is_a: MONDO:0024237 {source="Orphanet:497906", source="indirect"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/omim/617054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310743
property_value: exactMatch Orphanet:497906

[Term]
id: MONDO:0014890
name: cold-induced sweating syndrome 3
def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CISS3" EXACT [OMIM:617055]
synonym: "cold-induced sweating syndrome 3" EXACT [OMIM:617055]
synonym: "cold-induced sweating syndrome caused by mutation in KLHL7" EXACT [MONDO:design_pattern]
synonym: "cold-induced sweating syndrome type 3" EXACT [MONDORULE:1, OMIM:617055]
synonym: "Crisponi/cold-induced sweating syndrome 3" RELATED [OMIM:617055]
synonym: "CRISPONI/cold-induced sweating syndrome 3; CISS3" RELATED [OMIM:617055]
synonym: "KLHL7 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080331 {source="MONDO:equivalentTo"}
xref: OMIM:617055 {source="DOID:0080331", source="MONDO:equivalentTo"}
xref: UMLS:C4310742 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015526 {source="DC-OMIM:617055", source="DOID:0080331", source="MONDO:Redundant", source="OMIM:617055"} ! cold-induced sweating syndrome
property_value: exactMatch DOID:0080331
property_value: exactMatch http://identifiers.org/omim/617055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310742

[Term]
id: MONDO:0014891
name: hyperuricemic nephropathy, familial juvenile type 4
def: "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADTKD-SEC61A1" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1" EXACT [MONDO:design_pattern]
synonym: "HNFJ4" EXACT [OMIM:617056]
synonym: "hyperuricemic nephropathy, familial juvenile, 4" EXACT [OMIM:617056]
synonym: "hyperuricemic NEPHROPATHY, familial juvenile, 4; HNFJ4" RELATED [OMIM:617056]
synonym: "hyperuricemic nephropathy, familial juvenile, type 4" EXACT [MONDORULE:1, OMIM:617056]
synonym: "SEC61A1 familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEC61A1-related autosomal dominant tubulointerstitial kidney disease" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
xref: OMIM:617056 {source="MONDO:equivalentTo"}
xref: UMLS:C4310741 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000608 {source="DC-OMIM:617056", source="MONDO:Redundant", source="OMIM:617056"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310741

[Term]
id: MONDO:0014892
name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:476126"}
synonym: "autosomal dominant mental retardation 44" EXACT [DOID:0070074]
synonym: "autosomal dominant non-syndromic intellectual disability 44" RELATED [DOID:0070074]
synonym: "MEBAS" EXACT [OMIM:617061]
synonym: "mental retardation, autosomal dominant 44" RELATED [OMIM:617061]
synonym: "mental retardation, autosomal dominant 44; MRD44" RELATED [OMIM:617061]
synonym: "mercer-Ba syndrome" EXACT [OMIM:617061]
synonym: "MRD44" EXACT [DOID:0070074, OMIM:617061]
xref: DOID:0070074 {source="MONDO:equivalentTo"}
xref: OMIM:617061 {source="Orphanet:476126", source="MONDO:equivalentTo", source="DOID:0070074"}
xref: Orphanet:476126 {source="MONDO:equivalentTo"}
xref: UMLS:C4310740 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:476126", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:476126"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070074"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070074
property_value: exactMatch http://identifiers.org/omim/617061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310740
property_value: exactMatch Orphanet:476126

[Term]
id: MONDO:0014893
name: Okur-Chung neurodevelopmental syndrome
synonym: "OCNDS" EXACT ABBREVIATION [MONDOLEX:0014893, OMIM:617062]
synonym: "Okur-Chung neurodevelopmental syndrome" EXACT [OMIM:617062]
synonym: "Okur-Chung neurodevelopmental syndrome; OCNDS" EXACT [MONDOLEX:0014893]
xref: OMIM:617062 {source="MONDO:equivalentTo"}
xref: UMLS:C4310739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310739

[Term]
id: MONDO:0014894
name: Meier-Gorlin syndrome 7
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDC45 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 7" EXACT [OMIM:617063]
synonym: "Meier-Gorlin syndrome 7; MGORS7" EXACT [MONDOLEX:0014894]
synonym: "Meier-Gorlin syndrome caused by mutation in CDC45" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 7" EXACT [MONDORULE:1, OMIM:617063]
synonym: "MGORS7" EXACT ABBREVIATION [MONDOLEX:0014894, OMIM:617063]
xref: OMIM:617063 {source="MONDO:equivalentTo"}
xref: UMLS:C4310738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016817 {source="DC-OMIM:617063", source="MONDO:Redundant", source="OMIM:617063"} ! Meier-Gorlin syndrome
property_value: exactMatch http://identifiers.org/omim/617063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310738

[Term]
id: MONDO:0014895
name: epileptic encephalopathy, early infantile, 40
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GUF1" EXACT [MONDO:design_pattern]
synonym: "EIEE40" EXACT ABBREVIATION [MONDOLEX:0014895, OMIM:617065]
synonym: "epileptic encephalopathy, early infantile, 40" EXACT [OMIM:617065]
synonym: "epileptic encephalopathy, early infantile, 40; EIEE40" EXACT [MONDOLEX:0014895]
synonym: "epileptic encephalopathy, early infantile, type 40" EXACT [MONDORULE:2, OMIM:617065]
synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617065 {source="MONDO:equivalentTo"}
xref: UMLS:C4310737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome
property_value: exactMatch http://identifiers.org/omim/617065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310737

[Term]
id: MONDO:0014896
name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
subset: ordo_disease
synonym: "congenital muscular dystrophy, Davignon-Chauveau type" EXACT [Orphanet:486815]
synonym: "MDCDC" EXACT [OMIM:617066]
synonym: "muscular dystrophy, congenital, Davignon-Chauveau type" EXACT [OMIM:617066]
synonym: "muscular dystrophy, congenital, Davignon-Chauveau type; MDCDC" RELATED [OMIM:617066]
xref: OMIM:617066 {source="MONDO:equivalentTo", source="Orphanet:486815"}
xref: Orphanet:486815 {source="MONDO:equivalentTo"}
xref: UMLS:C4310736 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019950 {source="MONDOLEX:0014896", source="Orphanet:486815"} ! congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/617066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310736
property_value: exactMatch Orphanet:486815

[Term]
id: MONDO:0014897
name: portal hypertension, noncirrhotic
synonym: "NCPH" EXACT ABBREVIATION [MONDOLEX:0014897]
synonym: "NCPH" RELATED [OMIM:617068]
synonym: "portal hypertension, noncirrhotic" EXACT [OMIM:617068]
synonym: "portal hypertension, noncirrhotic; NCPH" EXACT [MONDOLEX:0014897]
xref: OMIM:617068 {source="MONDO:equivalentTo"}
xref: UMLS:C4310735 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310735

[Term]
id: MONDO:0014898
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2" EXACT [MONDO:design_pattern]
synonym: "PEOB3" EXACT ABBREVIATION [MONDOLEX:0014898, OMIM:617069]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" EXACT [OMIM:617069]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3" EXACT [MONDOLEX:0014898]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:617069]
synonym: "progressive external ophthalmoplegia, autosomal recessive 3" RELATED [OMIM:617069]
synonym: "TK2 autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617069 {source="MONDO:equivalentTo"}
xref: UMLS:C4310734 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="DC-OMIM:617069", source="MONDOLEX:0014898", source="OMIM:617069"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016810 {source="MONDO:Redundant", source="MONDOLEX:0014898", source="ORDO:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/omim/617069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310734

[Term]
id: MONDO:0014899
name: adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
def: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." [Orphanet:329314]
subset: ordo_disease {source="Orphanet:329314"}
synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [Orphanet:329314]
synonym: "PEOB4" EXACT [OMIM:617070]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" EXACT [OMIM:617070]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; PEOB4" RELATED [OMIM:617070]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:617070]
synonym: "progressive external ophthalmoplegia, autosomal recessive 4" RELATED [OMIM:617070]
xref: ICD10:G71.3 {source="ORDO:329314/attributed", source="ORDO:329314/ntbt", source="Orphanet:329314"}
xref: OMIM:617070 {source="MONDO:equivalentTo", source="ORDO:329314/e", source="Orphanet:329314"}
xref: Orphanet:329314 {source="MONDO:equivalentTo"}
xref: SCTID:733599009 {source="MONDO:equivalentTo"}
xref: UMLS:C4310733 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="DC-OMIM:617070", source="MONDOLEX:0014899", source="OMIM:617070"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016797 {source="Orphanet:329314"} ! multiple mitochondrial DNA deletion syndrome
property_value: exactMatch http://identifiers.org/omim/617070
property_value: exactMatch http://identifiers.org/snomedct/733599009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310733
property_value: exactMatch Orphanet:329314

[Term]
id: MONDO:0014900
name: autosomal recessive limb-girdle muscular dystrophy type 2Y
def: "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." [Orphanet:424261]
subset: ordo_disease {source="Orphanet:424261"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [DOID:0110289, Orphanet:424261]
synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [DOID:0110289, Orphanet:424261]
synonym: "LGMD2Y" EXACT [DOID:0110289, OMIM:617072, Orphanet:424261]
synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [DOID:0110289, Orphanet:424261]
synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289]
synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [OMIM:617072]
synonym: "muscular dystrophy, limb-girdle, type 2Y; LGMD2Y" RELATED [OMIM:617072]
synonym: "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110289 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:424261/attributed", source="ORDO:424261/ntbt", source="Orphanet:424261", source="DOID:0110289"}
xref: OMIM:617072 {source="MONDO:equivalentTo", source="Orphanet:424261", source="ORDO:424261/e", source="DOID:0110289"}
xref: Orphanet:424261 {source="MONDO:equivalentTo", source="DOID:0110289"}
xref: SCTID:725907002 {source="MONDO:equivalentTo"}
xref: UMLS:C4310731 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="DOID:0110289", source="MONDO:Redundant", source="MONDOLEX:0014900", source="OMIM:617072", source="Orphanet:424261"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0018529 {source="Orphanet:424261"} ! qualitative or quantitative defects of Torsin-1A-interacting protein 1
property_value: exactMatch DOID:0110289
property_value: exactMatch http://identifiers.org/omim/617072
property_value: exactMatch http://identifiers.org/snomedct/725907002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310731
property_value: exactMatch Orphanet:424261

[Term]
id: MONDO:0014901
name: tooth agenesis, selective, 8
def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "STHAG8" EXACT ABBREVIATION [MONDOLEX:0014901, OMIM:617073]
synonym: "tooth agenesis caused by mutation in WNT10B" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 8" EXACT [OMIM:617073]
synonym: "tooth agenesis, selective, 8; STHAG8" EXACT [MONDOLEX:0014901]
synonym: "tooth agenesis, selective, type 8" EXACT [MONDORULE:1, OMIM:617073]
synonym: "WNT10B tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617073 {source="MONDO:equivalentTo"}
xref: UMLS:C4310730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005486 {source="DC-OMIM:617073", source="MONDO:Redundant", source="OMIM:617073"} ! tooth agenesis
property_value: exactMatch http://identifiers.org/omim/617073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310730

[Term]
id: MONDO:0014902
name: nasopharyngeal carcinoma, susceptibility to, 3
def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "MST1R nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nasopharyngeal carcinoma caused by mutation in MST1R" EXACT [MONDO:design_pattern]
synonym: "nasopharyngeal carcinoma, susceptibility to, 3" EXACT [OMIM:617075]
synonym: "nasopharyngeal carcinoma, susceptibility to, 3; NPCA3" EXACT [MONDOLEX:0014902]
synonym: "nasopharyngeal carcinoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:617075]
synonym: "NPCA3" EXACT ABBREVIATION [MONDOLEX:0014902, OMIM:617075]
synonym: "susceptibility to nasopharyngeal carcinoma 3" RELATED [OMIM:617075]
xref: OMIM:617075 {source="MONDO:equivalentTo"}
is_a: MONDO:0015459 {source="DC-OMIM:617075", source="MONDO:Redundant", source="MONDOLEX:0014902"} ! nasopharyngeal carcinoma
is_a: MONDO:0017128 ! inherited digestive tract tumor
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015459 ! nasopharyngeal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310729
property_value: exactMatch http://identifiers.org/omim/617075

[Term]
id: MONDO:0014903
name: seizures, benign familial infantile, 5
def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "benign familial infantile epilepsy caused by mutation in SCN8A" EXACT [MONDO:design_pattern]
synonym: "BFIS5" EXACT ABBREVIATION [MONDOLEX:0014903, OMIM:617080]
synonym: "convulsions, benign familial infantile, 5" RELATED [OMIM:617080]
synonym: "SCN8A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial infantile, 5" EXACT [OMIM:617080]
synonym: "seizures, benign familial infantile, 5; BFIS5" EXACT [MONDOLEX:0014903]
synonym: "seizures, benign familial infantile, type 5" EXACT [MONDORULE:1, OMIM:617080]
xref: OMIM:617080 {source="MONDO:equivalentTo"}
xref: UMLS:C4310728 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017615 {source="DC-OMIM:617080", source="MONDO:Redundant", source="OMIM:617080"} ! benign familial infantile epilepsy
property_value: exactMatch http://identifiers.org/omim/617080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310728

[Term]
id: MONDO:0014904
name: congenital disorder of glycosylation, type IAA
synonym: "CDG1AA" EXACT ABBREVIATION [MONDOLEX:0014904, OMIM:617082]
synonym: "congenital disorder of glycosylation, type IAA" EXACT [OMIM:617082]
synonym: "congenital disorder of glycosylation, type IAA; CDG1AA" EXACT [MONDOLEX:0014904]
xref: OMIM:617082 {source="MONDO:equivalentTo"}
xref: UMLS:C4310727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="DC-OMIM:617082"} ! congenital disorder of glycosylation type I
property_value: exactMatch http://identifiers.org/omim/617082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310727

[Term]
id: MONDO:0014905
name: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
subset: ordo_malformation_syndrome
synonym: "EMPF2" EXACT [OMIM:617086]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 2" EXACT [OMIM:617086]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 2; EMPF2" RELATED [OMIM:617086]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission type 2" EXACT [MONDORULE:1, OMIM:617086]
xref: OMIM:617086 {source="Orphanet:485421", source="MONDO:equivalentTo"}
xref: Orphanet:485421 {source="MONDO:equivalentTo"}
xref: UMLS:C4310726 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:485421", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0018609 {source="Orphanet:485421"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0054865 {source="OMIM:617086"} ! encephalopathy due to mitochondrial and peroxisomal fission defect
property_value: exactMatch http://identifiers.org/omim/617086
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310726
property_value: exactMatch Orphanet:485421

[Term]
id: MONDO:0014906
name: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
def: "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." [NCIT:C150647]
synonym: "Charcot-Marie-Tooth disease type 2A2B" EXACT [NCIT:C150647]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" RELATED [OMIM:617087]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B; CMT2A2B" RELATED [OMIM:617087]
synonym: "CMT2A2B" RELATED [OMIM:617087]
xref: NCIT:C150647 {source="MONDO:equivalentTo"}
xref: OMIM:617087 {source="MONDO:equivalentTo"}
xref: UMLS:C4310725 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015626 {source="DC-OMIM:617087", source="NCIT:C150647/inferred", source="OMIM:617087"} ! Charcot-Marie-Tooth disease
property_value: exactMatch http://identifiers.org/omim/617087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310725
property_value: exactMatch NCIT:C150647

[Term]
id: MONDO:0014907
name: short-rib thoracic dysplasia 15 with polydactyly
synonym: "short-rib thoracic dysplasia 15 with polydactyly" EXACT [OMIM:617088]
synonym: "short-rib thoracic dysplasia 15 with polydactyly; SRTD15" EXACT [MONDOLEX:0014907]
synonym: "SRTD15" EXACT ABBREVIATION [MONDOLEX:0014907, OMIM:617088]
xref: OMIM:617088 {source="MONDO:equivalentTo"}
xref: UMLS:C4310724 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="OMIM:617088", source="ORDO:474/btnt"} ! Jeune syndrome
property_value: exactMatch http://identifiers.org/omim/617088
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310724

[Term]
id: MONDO:0014908
name: microcephaly 17, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in CIT" EXACT []
synonym: "autosomal recessive primary microcephaly caused by mutation in cit" EXACT [MONDO:design_pattern]
synonym: "CIT autosomal recessive primary microcephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "cit autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern]
synonym: "MCPH17" EXACT ABBREVIATION [MONDOLEX:0014908, OMIM:617090]
synonym: "microcephaly 17, primary, autosomal recessive" EXACT [OMIM:617090]
synonym: "microcephaly 17, primary, autosomal recessive; MCPH17" EXACT [MONDOLEX:0014908]
xref: DOID:0070288 {source="MONDO:equivalentTo"}
xref: OMIM:617090 {source="MONDO:equivalentTo"}
xref: UMLS:C4310723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="DC-OMIM:617090", source="MONDO:Redundant", source="OMIM:617090"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070288
property_value: exactMatch http://identifiers.org/omim/617090
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310723

[Term]
id: MONDO:0014909
name: primary ciliary dyskinesia 34
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD34" EXACT [DOID:0110610, OMIM:617091]
synonym: "ciliary dyskinesia, primary, 34" EXACT [OMIM:617091]
synonym: "ciliary dyskinesia, primary, 34, without situs inversus" RELATED [OMIM:617091]
synonym: "ciliary dyskinesia, primary, 34; CILD34" RELATED [OMIM:617091]
synonym: "ciliary dyskinesia, primary, type 34" EXACT [MONDORULE:2, OMIM:617091]
synonym: "DNAJB13 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 34 without situs inversus" EXACT [DOID:0110610]
synonym: "primary ciliary dyskinesia caused by mutation in DNAJB13" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 34" EXACT [DOID:0110610, MONDORULE:2]
xref: DOID:0110610 {source="MONDO:equivalentTo"}
xref: OMIM:617091 {source="DOID:0110610", source="MONDO:equivalentTo"}
xref: UMLS:C4310722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:617091", source="DOID:0110610", source="MONDO:Redundant", source="MONDOLEX:0014909", source="OMIM:617091"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110610
property_value: exactMatch http://identifiers.org/omim/617091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310722

[Term]
id: MONDO:0014910
name: primary ciliary dyskinesia 35
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CILD35" EXACT [DOID:0110620, OMIM:617092]
synonym: "ciliary dyskinesia, primary, 35" EXACT [OMIM:617092]
synonym: "ciliary dyskinesia, primary, 35, with or without situs inversus" RELATED [OMIM:617092]
synonym: "ciliary dyskinesia, primary, 35; CILD35" RELATED [OMIM:617092]
synonym: "ciliary dyskinesia, primary, type 35" EXACT [MONDORULE:2, OMIM:617092]
synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [DOID:0110620]
synonym: "primary ciliary dyskinesia caused by mutation in TTC25" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 35" EXACT [DOID:0110620, MONDORULE:2]
synonym: "TTC25 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110620 {source="MONDO:equivalentTo"}
xref: OMIM:617092 {source="MONDO:equivalentTo", source="DOID:0110620"}
xref: UMLS:C4310721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DC-OMIM:617092", source="DOID:0110620", source="MONDO:Redundant", source="MONDOLEX:0014910", source="OMIM:617092"} ! primary ciliary dyskinesia
property_value: exactMatch DOID:0110620
property_value: exactMatch http://identifiers.org/omim/617092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310721

[Term]
id: MONDO:0014911
name: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
def: "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." [Orphanet:541423]
subset: clingen
subset: ordo_disease
synonym: "GRIDHH" EXACT ABBREVIATION [MONDOLEX:0014911, OMIM:617093]
synonym: "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" EXACT [OMIM:617093]
synonym: "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" EXACT [MONDOLEX:0014911]
xref: EFO:0009155 {source="MONDO:equivalentTo"}
xref: OMIM:617093 {source="Orphanet:541423", source="MONDO:equivalentTo"}
xref: Orphanet:541423 {source="MONDO:equivalentTo"}
xref: UMLS:C4310720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015508 {source="Orphanet:541423"} ! genetic parenchymatous liver disease
property_value: exactMatch http://identifiers.org/omim/617093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310720
property_value: exactMatch Orphanet:541423

[Term]
id: MONDO:0014912
name: infantile-onset periodic fever-panniculitis-dermatosis syndrome
subset: gard_rare {source="GARD:0013198"}
subset: ordo_disease
synonym: "AIPDS" EXACT [OMIM:617099]
synonym: "autoinflammation, panniculitis and dermatosis syndrome" EXACT [DOID:0080163]
synonym: "Autoinflammation, panniculitis, and dermatosis syndrome" EXACT [OMIM:617099]
synonym: "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome; AIPDS" RELATED [OMIM:617099]
synonym: "ORAS" EXACT [Orphanet:500062]
synonym: "otulin deficiency" EXACT [Orphanet:500062]
synonym: "otulin-related autoinflammatory syndrome" EXACT [DOID:0080163, Orphanet:500062]
synonym: "otulipenia" EXACT [Orphanet:500062]
xref: DOID:0080163 {source="MONDO:equivalentTo"}
xref: GARD:0013198 {source="MONDO:equivalentTo"}
xref: OMIM:617099 {source="DOID:0080163", source="MONDO:equivalentTo", source="Orphanet:500062"}
xref: Orphanet:500062 {source="MONDO:equivalentTo"}
xref: SCTID:765435009 {source="MONDO:equivalentTo"}
xref: UMLS:C4310614 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="DOID:0080163"} ! immune system disease
is_a: MONDO:0017953 {source="Orphanet:500062"} ! hereditary periodic fever syndrome
property_value: exactMatch DOID:0080163
property_value: exactMatch http://identifiers.org/omim/617099
property_value: exactMatch http://identifiers.org/snomedct/765435009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310614
property_value: exactMatch Orphanet:500062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13198/otulipenia xsd:anyURI {source="GARD:0013198"}

[Term]
id: MONDO:0014914
name: Dias-Logan syndrome
synonym: "BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin" RELATED [https://clinicalgenome.org/affiliation/40006/]
synonym: "Dias-Logan syndrome" EXACT [OMIM:617101]
synonym: "Dias-Logan syndrome; DILOS" EXACT [MONDOLEX:0014914]
synonym: "DILOS" EXACT ABBREVIATION [MONDOLEX:0014914, OMIM:617101]
synonym: "intellectual developmental disorder with hereditary persistence of fetal Hemoglobin" RELATED [OMIM:617101]
synonym: "intellectual developmental disorder with persistence of fetal HEMOGLOBIN" RELATED [OMIM:617101]
synonym: "intellectual developmental disorder with persistence of fetal Hemoglobin" RELATED [OMIM:617101]
xref: OMIM:617101 {source="MONDO:equivalentTo"}
xref: UMLS:C4310833 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310833

[Term]
id: MONDO:0014915
name: short-rib thoracic dysplasia 16 with or without polydactyly
synonym: "short-rib thoracic dysplasia 16 with or without polydactyly" EXACT [OMIM:617102]
synonym: "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16" EXACT [MONDOLEX:0014915]
synonym: "SRTD16" EXACT ABBREVIATION [MONDOLEX:0014915, OMIM:617102]
xref: OMIM:617102 {source="MONDO:equivalentTo"}
xref: UMLS:C4310718 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009032 {source="ORDO:1515/btnt"} ! cranioectodermal dysplasia
is_a: MONDO:0018770 {source="OMIM:617102"} ! Jeune syndrome
property_value: exactMatch http://identifiers.org/omim/617102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310718

[Term]
id: MONDO:0014916
name: epileptic encephalopathy, early infantile, 41
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC1A2" EXACT [MONDO:design_pattern]
synonym: "EIEE41" EXACT ABBREVIATION [MONDOLEX:0014916, OMIM:617105]
synonym: "epileptic encephalopathy, early infantile, 41" EXACT [OMIM:617105]
synonym: "epileptic encephalopathy, early infantile, 41; EIEE41" EXACT [MONDOLEX:0014916]
synonym: "epileptic encephalopathy, early infantile, type 41" EXACT [MONDORULE:2, OMIM:617105]
synonym: "SLC1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617105 {source="MONDO:equivalentTo"}
xref: UMLS:C4310717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310717

[Term]
id: MONDO:0014917
name: epileptic encephalopathy, early infantile, 42
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CACNA1A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "EIEE42" EXACT ABBREVIATION [MONDOLEX:0014917, OMIM:617106]
synonym: "epileptic encephalopathy, early infantile, 42" EXACT [OMIM:617106]
synonym: "epileptic encephalopathy, early infantile, 42; EIEE42" EXACT [MONDOLEX:0014917]
synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2, OMIM:617106]
xref: OMIM:617106 {source="MONDO:equivalentTo"}
xref: UMLS:C4310716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617106", source="MONDO:Redundant", source="OMIM:617106"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310716

[Term]
id: MONDO:0014918
name: tall stature-intellectual disability-renal anomalies syndrome
subset: ordo_malformation_syndrome
synonym: "Thauvin-robinet-Faivre syndrome" EXACT [OMIM:617107, Orphanet:500095]
synonym: "THAUVIN-robinet-Faivre syndrome; TROFAS" RELATED [OMIM:617107]
synonym: "TROFAS" EXACT [OMIM:617107]
xref: OMIM:617107 {source="MONDO:equivalentTo", source="Orphanet:500095"}
xref: Orphanet:500095 {source="MONDO:equivalentTo"}
xref: UMLS:C4310715 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500095", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:500095"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:500095"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310715
property_value: exactMatch Orphanet:500095

[Term]
id: MONDO:0014919
name: sessile serrated polyposis cancer syndrome
synonym: "sessile serrated polyposis cancer syndrome" EXACT [OMIM:617108]
synonym: "sessile serrated polyposis cancer syndrome; SSPCS" EXACT [MONDOLEX:0014919]
synonym: "SSPCS" EXACT ABBREVIATION [MONDOLEX:0014919, OMIM:617108]
xref: OMIM:617108 {source="MONDO:equivalentTo"}
xref: UMLS:C4310714 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015524 {source="ORDO:157798/btnt"} ! hyperplastic polyposis syndrome
property_value: exactMatch http://identifiers.org/omim/617108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310714

[Term]
id: MONDO:0014920
name: patterned macular dystrophy 3
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:466718"}
synonym: "macular dystrophy, patterned, 3" EXACT [OMIM:617111]
synonym: "macular dystrophy, patterned, 3; MDPT3" RELATED [OMIM:617111]
synonym: "macular dystrophy, patterned, type 3" EXACT [MONDORULE:1, OMIM:617111]
synonym: "MAPKAPK3 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [DOID:0060865]
synonym: "MCRPE" EXACT [Orphanet:466718]
synonym: "MDPT3" EXACT [DOID:0060865, OMIM:617111]
synonym: "patterned macular dystrophy caused by mutation in MAPKAPK3" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 3" EXACT [DOID:0060865, MONDORULE:1]
xref: DOID:0060865 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="ORDO:466718/attributed", source="ORDO:466718/ntbt", source="MONDO:relatedTo", source="Orphanet:466718"}
xref: OMIM:617111 {source="MONDO:equivalentTo", source="DOID:0060865", source="Orphanet:466718"}
xref: Orphanet:466718 {source="MONDO:equivalentTo"}
xref: UMLS:C4310713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020381 {source="DOID:0060865", source="MONDO:Redundant", source="OMIM:617111"} ! patterned macular dystrophy
property_value: exactMatch DOID:0060865
property_value: exactMatch http://identifiers.org/omim/617111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310713
property_value: exactMatch Orphanet:466718

[Term]
id: MONDO:0014921
name: epileptic encephalopathy, early infantile, 43
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB3" EXACT [MONDO:design_pattern]
synonym: "EIEE43" EXACT ABBREVIATION [MONDOLEX:0014921, OMIM:617113]
synonym: "epileptic encephalopathy, early infantile, 43" EXACT [OMIM:617113]
synonym: "epileptic encephalopathy, early infantile, 43; EIEE43" EXACT [MONDOLEX:0014921]
synonym: "epileptic encephalopathy, early infantile, type 43" EXACT [MONDORULE:2, OMIM:617113]
synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617113 {source="MONDO:equivalentTo"}
xref: UMLS:C4310712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! early infantile epileptic encephalopathy
is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome
property_value: exactMatch http://identifiers.org/omim/617113
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310712

[Term]
id: MONDO:0014922
name: myofibrillar myopathy 7
def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." [MONDO:patterns/disease_series_by_gene]
synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098]
synonym: "KY myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM7" RELATED [OMIM:617114]
synonym: "myofibrillar myopathy (disease) caused by mutation in KY" EXACT []
synonym: "myopathy, myofibrillar, 7" EXACT [OMIM:617114]
synonym: "myopathy, myofibrillar, 7; MFM7" RELATED [OMIM:617114]
synonym: "myopathy, myofibrillar, type 7" EXACT [MONDORULE:1, OMIM:617114]
xref: DOID:0080098 {source="lexical", source="MONDO:relatedTo", source="MONDO:equivalentTo"}
xref: OMIM:617114 {source="DOID:0080098", source="MONDO:equivalentTo"}
xref: UMLS:C4310711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018943 {source="DOID:0080098", source="MONDO:Redundant", source="OMIM:617114"} ! myofibrillar myopathy (disease)
property_value: exactMatch DOID:0080098
property_value: exactMatch http://identifiers.org/omim/617114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310711

[Term]
id: MONDO:0014923
name: peeling skin syndrome 5
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "peeling skin syndrome 5" EXACT [OMIM:617115]
synonym: "peeling skin syndrome 5; PSS5" EXACT [MONDOLEX:0014923]
synonym: "peeling skin syndrome caused by mutation in SERPINB8" EXACT [MONDO:design_pattern]
synonym: "peeling skin syndrome type 5" EXACT [MONDORULE:1, OMIM:617115]
synonym: "PSS5" EXACT ABBREVIATION [MONDOLEX:0014923]
synonym: "PSS5" RELATED [OMIM:617115]
synonym: "SERPINB8 peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617115 {source="MONDO:equivalentTo"}
xref: UMLS:C4310710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017339 {source="ORDO:289586/btnt"} ! exfoliative ichthyosis
is_a: MONDO:0019347 {source="DC-OMIM:617115", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome
property_value: exactMatch http://identifiers.org/omim/617115
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310710

[Term]
id: MONDO:0014924
name: epilepsy, familial focal, with variable foci 2
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, familial focal, with variable foci 2" EXACT [OMIM:617116]
synonym: "epilepsy, familial focal, with variable foci 2; FFEVF2" EXACT [MONDOLEX:0014924]
synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL2" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial focal, with variable foci type 2" EXACT [MONDORULE:1, OMIM:617116]
synonym: "FFEVF2" EXACT ABBREVIATION [MONDOLEX:0014924, OMIM:617116]
synonym: "NPRL2 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617116 {source="MONDO:equivalentTo"}
xref: UMLS:C4310709 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020310 {source="DC-OMIM:617116", source="MONDO:Redundant", source="MONDOLEX:0014924", source="OMIM:617116"} ! familial focal epilepsy with variable foci
property_value: exactMatch http://identifiers.org/omim/617116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310709

[Term]
id: MONDO:0014925
name: epilepsy, familial focal, with variable foci 3
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, familial focal, with variable foci 3" EXACT [OMIM:617118]
synonym: "epilepsy, familial focal, with variable foci 3; FFEVF3" EXACT [MONDOLEX:0014925]
synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL3" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial focal, with variable foci type 3" EXACT [MONDORULE:1, OMIM:617118]
synonym: "FFEVF3" EXACT ABBREVIATION [MONDOLEX:0014925, OMIM:617118]
synonym: "NPRL3 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617118 {source="MONDO:equivalentTo"}
xref: UMLS:C4310708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020310 {source="DC-OMIM:617118", source="MONDO:Redundant", source="MONDOLEX:0014925", source="OMIM:617118"} ! familial focal epilepsy with variable foci
property_value: exactMatch http://identifiers.org/omim/617118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310708

[Term]
id: MONDO:0014926
name: Bardet-Biedl syndrome 20
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Bardet-Biedl syndrome 20" EXACT [OMIM:617119]
synonym: "Bardet-Biedl syndrome 20; BBS20" EXACT [MONDOLEX:0014926]
synonym: "Bardet-Biedl syndrome caused by mutation in IFT74" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 20" EXACT [MONDORULE:2, OMIM:617119]
synonym: "BBS20" EXACT ABBREVIATION [MONDOLEX:0014926, OMIM:617119]
synonym: "IFT74 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617119 {source="MONDO:equivalentTo"}
xref: UMLS:C4310707 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="DC-OMIM:617119", source="MONDO:Redundant", source="OMIM:617119"} ! Bardet-Biedl syndrome
property_value: exactMatch http://identifiers.org/omim/617119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310707

[Term]
id: MONDO:0014927
name: Joubert syndrome 27
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "B9D1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS27" EXACT [DOID:0110996, OMIM:617120]
synonym: "Joubert syndrome 27" EXACT [OMIM:617120]
synonym: "Joubert syndrome 27; JBTS27" RELATED [OMIM:617120]
synonym: "Joubert syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 27" EXACT [DOID:0110996, MONDORULE:2, OMIM:617120]
xref: DOID:0110996 {source="MONDO:equivalentTo"}
xref: OMIM:617120 {source="DOID:0110996", source="MONDO:equivalentTo"}
xref: UMLS:C4310706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DC-OMIM:617120", source="DOID:0110996", source="MONDO:Redundant", source="OMIM:617120"} ! Joubert syndrome
property_value: exactMatch DOID:0110996
property_value: exactMatch http://identifiers.org/omim/617120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310706

[Term]
id: MONDO:0014928
name: Joubert syndrome 28
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "JBTS28" EXACT [DOID:0110997, OMIM:617121]
synonym: "Joubert syndrome 28" EXACT [OMIM:617121]
synonym: "Joubert syndrome 28; JBTS28" RELATED [OMIM:617121]
synonym: "Joubert syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 28" EXACT [DOID:0110997, MONDORULE:2, OMIM:617121]
synonym: "MKS1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110997 {source="MONDO:equivalentTo"}
xref: OMIM:617121 {source="DOID:0110997", source="MONDO:equivalentTo"}
xref: UMLS:C4310705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:617121", source="DOID:0110997", source="MONDO:Redundant", source="OMIM:617121"} ! Joubert syndrome
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: exactMatch DOID:0110997
property_value: exactMatch http://identifiers.org/omim/617121
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310705

[Term]
id: MONDO:0014929
name: retinitis pigmentosa 76
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "POMGNT1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 76" EXACT [OMIM:617123]
synonym: "retinitis pigmentosa 76; RP76" EXACT [MONDOLEX:0014929]
synonym: "retinitis pigmentosa caused by mutation in POMGNT1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 76" EXACT [MONDORULE:2, OMIM:617123]
synonym: "RP76" EXACT ABBREVIATION [MONDOLEX:0014929]
synonym: "RP76" RELATED [OMIM:617123]
xref: OMIM:617123 {source="MONDO:equivalentTo"}
xref: UMLS:C4310704 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:617123", source="MONDO:Redundant", source="OMIM:617123"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/617123
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310704

[Term]
id: MONDO:0014930
name: intellectual disability, autosomal recessive 56
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 56; MRT56" EXACT [MONDOLEX:0014930]
synonym: "mental retardation, autosomal recessive 56" EXACT [OMIM:617125]
synonym: "mental retardation, autosomal recessive 56; MRT56" RELATED [OMIM:617125]
synonym: "mental retardation, autosomal recessive type 56" EXACT [MONDORULE:2, OMIM:617125]
synonym: "MRT56" EXACT ABBREVIATION [MONDOLEX:0014930, OMIM:617125]
synonym: "ZC3H14 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617125 {source="MONDO:equivalentTo"}
xref: UMLS:C4310703 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:617125", source="MONDO:Redundant", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310703

[Term]
id: MONDO:0014931
name: Alazami-Yuan syndrome
synonym: "Alazami-Yuan syndrome" EXACT [OMIM:617126]
synonym: "Alazami-Yuan syndrome; ALYUS" EXACT [MONDOLEX:0014931]
synonym: "ALYUS" EXACT ABBREVIATION [MONDOLEX:0014931, OMIM:617126]
xref: OMIM:617126 {source="MONDO:equivalentTo"}
xref: UMLS:C4310702 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617126
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310702

[Term]
id: MONDO:0014932
name: orofaciodigital syndrome XV
synonym: "OFD15" EXACT [OMIM:617127]
synonym: "Ofds 15" RELATED [OMIM:617127]
synonym: "oral-Facial-digital syndrome, type 15" RELATED [OMIM:617127]
synonym: "orofaciodigital syndrome 15" RELATED [OMIM:617127]
synonym: "orofaciodigital syndrome type XV" EXACT [MONDORULE:3, OMIM:617127]
synonym: "orofaciodigital syndrome XV" EXACT [OMIM:617127]
synonym: "orofaciodigital syndrome XV; OFD15" RELATED [OMIM:617127]
xref: OMIM:617127 {source="MONDO:equivalentTo"}
xref: UMLS:C4310701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="MONDO:cjm"} ! orofaciodigital syndrome
property_value: exactMatch http://identifiers.org/omim/617127
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310701

[Term]
id: MONDO:0014933
name: epileptic encephalopathy, early infantile, 44
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in UBA5" EXACT [MONDO:design_pattern]
synonym: "EIEE44" EXACT ABBREVIATION [MONDOLEX:0014933, OMIM:617132]
synonym: "epileptic encephalopathy, early infantile, 44" EXACT [OMIM:617132]
synonym: "epileptic encephalopathy, early infantile, 44; EIEE44" EXACT [MONDOLEX:0014933]
synonym: "epileptic encephalopathy, early infantile, type 44" EXACT [MONDORULE:2, OMIM:617132]
synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617132 {source="MONDO:equivalentTo"}
xref: UMLS:C4310700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617132
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310700

[Term]
id: MONDO:0014934
name: spinocerebellar ataxia, autosomal recessive 24
def: "Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia caused by mutation in UBA5" EXACT [MONDO:design_pattern]
synonym: "SCAR24" EXACT ABBREVIATION [MONDOLEX:0014934, OMIM:617133]
synonym: "spinocerebellar ataxia, autosomal recessive 24" EXACT [OMIM:617133]
synonym: "spinocerebellar ataxia, autosomal recessive 24; SCAR24" EXACT [MONDOLEX:0014934]
synonym: "spinocerebellar ataxia, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:617133]
synonym: "UBA5 autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617133 {source="MONDO:equivalentTo"}
xref: UMLS:C4310699 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DC-OMIM:617133", source="MONDO:Redundant"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/617133
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310699

[Term]
id: MONDO:0014935
name: frontometaphyseal dysplasia 2
def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FMD2" EXACT ABBREVIATION [MONDOLEX:0014935]
synonym: "FMD2" RELATED [OMIM:617137]
synonym: "Frontometaphyseal dysplasia 2" EXACT [OMIM:617137]
synonym: "frontometaphyseal dysplasia 2; FMD2" EXACT [MONDOLEX:0014935]
synonym: "frontometaphyseal dysplasia caused by mutation in MAP3K7" EXACT [MONDO:design_pattern]
synonym: "Frontometaphyseal dysplasia type 2" EXACT [MONDORULE:1, OMIM:617137]
synonym: "MAP3K7 frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617137 {source="MONDO:equivalentTo"}
xref: UMLS:C4310697 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015942 {source="DC-OMIM:617137", source="MONDO:Redundant", source="OMIM:617137"} ! frontometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/omim/617137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310697

[Term]
id: MONDO:0014936
name: ZTTK syndrome
subset: ordo_malformation_syndrome
synonym: "brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" RELATED [Orphanet:500150]
synonym: "TOKIMS" EXACT [OMIM:617140]
synonym: "Tokita-Kim syndrome" EXACT [OMIM:617140]
synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" RELATED [OMIM:617140]
synonym: "ZTTK multiple congenital anomalies-mental retardation syndrome" RELATED [OMIM:617140]
synonym: "ZTTK syndrome; ZTTKS" RELATED [OMIM:617140]
synonym: "ZTTKS" RELATED [OMIM:617140]
xref: OMIM:617140 {source="MONDO:equivalentTo", source="Orphanet:500150"}
xref: Orphanet:500150 {source="MONDO:equivalentTo", source="OMIM:617140"}
xref: UMLS:C4310696 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:617140"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500150", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:500150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017120 {source="Orphanet:500150"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310696
property_value: exactMatch Orphanet:500150

[Term]
id: MONDO:0014937
name: aniridia 2
synonym: "AN2" EXACT ABBREVIATION [MONDOLEX:0014937]
synonym: "AN2" RELATED [OMIM:617141]
synonym: "aniridia 2" EXACT [OMIM:617141]
synonym: "aniridia 2; AN2" EXACT [MONDOLEX:0014937]
synonym: "aniridia type 2" EXACT [MONDORULE:1, OMIM:617141]
xref: MESH:C536372 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:617141 {source="MONDO:equivalentTo"}
xref: SCTID:253232000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0007119 {source="OMIM:617141", source="ORDO:250923/btnt"} ! isolated aniridia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344543
property_value: exactMatch http://identifiers.org/mesh/C536372
property_value: exactMatch http://identifiers.org/omim/617141
property_value: exactMatch http://identifiers.org/snomedct/253232000

[Term]
id: MONDO:0014938
name: aniridia 3
def: "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AN3" EXACT ABBREVIATION [MONDOLEX:0014938]
synonym: "AN3" RELATED [OMIM:617142]
synonym: "aniridia 3" EXACT [OMIM:617142]
synonym: "aniridia 3; AN3" EXACT [MONDOLEX:0014938]
synonym: "aniridia type 3" EXACT [MONDORULE:1, OMIM:617142]
synonym: "isolated aniridia caused by mutation in TRIM44" EXACT [MONDO:design_pattern]
synonym: "TRIM44 isolated aniridia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617142 {source="MONDO:equivalentTo"}
is_a: MONDO:0007119 {source="MONDO:Redundant", source="OMIM:617142", source="ORDO:250923/btnt"} ! isolated aniridia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310695
property_value: exactMatch http://identifiers.org/omim/617142

[Term]
id: MONDO:0014939
name: congenital myasthenic syndrome 20
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS20" EXACT [DOID:0110661, OMIM:617143]
synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [DOID:0110661]
synonym: "congenital myasthenic syndrome caused by mutation in SLC5A7" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 20" EXACT [DOID:0110661, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 20, presynaptic" EXACT [OMIM:617143]
synonym: "myasthenic syndrome, congenital, 20, presynaptic; CMS20" RELATED [OMIM:617143]
synonym: "SLC5A7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110661 {source="MONDO:equivalentTo"}
xref: OMIM:617143 {source="MONDO:equivalentTo", source="DOID:0110661"}
xref: UMLS:C4310694 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110661
property_value: exactMatch http://identifiers.org/omim/617143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310694

[Term]
id: MONDO:0014940
name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
synonym: "NADGP" EXACT ABBREVIATION [MONDOLEX:0014940, OMIM:617145]
synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" EXACT [OMIM:617145]
synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" EXACT [MONDOLEX:0014940]
xref: OMIM:617145 {source="MONDO:equivalentTo"}
xref: UMLS:C4310693 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310693

[Term]
id: MONDO:0014941
name: arthrogryposis, distal, with impaired proprioception and touch
synonym: "arthrogryposis, distal, with impaired proprioception and touch" EXACT [OMIM:617146]
synonym: "arthrogryposis, distal, with impaired proprioception and touch; DAIPT" EXACT [MONDOLEX:0014941]
synonym: "DAIPT" EXACT ABBREVIATION [MONDOLEX:0014941, OMIM:617146]
xref: OMIM:617146 {source="MONDO:equivalentTo"}
xref: UMLS:C4310692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019942 ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/omim/617146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310692

[Term]
id: MONDO:0014942
name: epileptic encephalopathy, early infantile, 45
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB1" EXACT [MONDO:design_pattern]
synonym: "EIEE45" EXACT ABBREVIATION [MONDOLEX:0014942, OMIM:617153]
synonym: "epileptic encephalopathy, early infantile, 45" EXACT [OMIM:617153]
synonym: "epileptic encephalopathy, early infantile, 45; EIEE45" EXACT [MONDOLEX:0014942]
synonym: "epileptic encephalopathy, early infantile, type 45" EXACT [MONDORULE:2, OMIM:617153]
synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617153 {source="MONDO:equivalentTo"}
xref: UMLS:C4310691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617153
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310691

[Term]
id: MONDO:0014943
name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type);
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" RELATED [OMIM:617156]
synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MTDPS15" RELATED [OMIM:617156]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in TFAM" EXACT [MONDO:design_pattern]
synonym: "MTDPS15" RELATED [OMIM:617156]
synonym: "TFAM mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080337 {source="MONDO:equivalentTo"}
xref: OMIM:617156 {source="MONDO:equivalentTo"}
xref: UMLS:C4310690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="DC-OMIM:617156", source="MONDO:Redundant", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch DOID:0080337
property_value: exactMatch http://identifiers.org/omim/617156
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310690

[Term]
id: MONDO:0014944
name: short stature-brachydactyly-obesity-global developmental delay syndrome
subset: ordo_malformation_syndrome {source="Orphanet:464288"}
synonym: "SBIDDS" EXACT [OMIM:617157]
synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures" EXACT [OMIM:617157]
synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures; SBIDDS" RELATED [OMIM:617157]
xref: OMIM:617157 {source="ORDO:464288/e", source="Orphanet:464288", source="MONDO:equivalentTo"}
xref: Orphanet:464288 {source="MONDO:equivalentTo"}
xref: UMLS:C4310689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464288", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:464288"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:464288"} ! syndromic genetic obesity
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019695 {source="Orphanet:464288"} ! acromelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617157
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310689
property_value: exactMatch Orphanet:464288

[Term]
id: MONDO:0014945
name: myopathy, distal, with rimmed vacuoles
synonym: "DMRV" EXACT ABBREVIATION [MONDOLEX:0014945]
synonym: "DMRV" RELATED [OMIM:617158]
synonym: "myopathy, distal, with rimmed vacuoles" EXACT [OMIM:617158]
synonym: "myopathy, distal, with rimmed vacuoles; DMRV" EXACT [MONDOLEX:0014945]
xref: OMIM:617158 {source="MONDO:equivalentTo"}
xref: UMLS:CN239822 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018949 ! distal myopathy
property_value: exactMatch http://identifiers.org/omim/617158
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239822

[Term]
id: MONDO:0014946
name: Sifrim-Hitz-Weiss syndrome
synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome" RELATED [OMIM:617159]
synonym: "Sifrim-Hitz-Weiss syndrome" EXACT [OMIM:617159]
synonym: "Sifrim-Hitz-Weiss syndrome; SIHIWES" EXACT [MONDOLEX:0014946]
synonym: "SIHIWES" EXACT ABBREVIATION [MONDOLEX:0014946, OMIM:617159]
xref: OMIM:617159 {source="MONDO:equivalentTo"}
xref: UMLS:C4310688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617159
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310688

[Term]
id: MONDO:0014947
name: epileptic encephalopathy, early infantile, 46
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2D" EXACT [MONDO:design_pattern]
synonym: "EIEE46" EXACT ABBREVIATION [MONDOLEX:0014947, OMIM:617162]
synonym: "epileptic encephalopathy, early infantile, 46" EXACT [OMIM:617162]
synonym: "epileptic encephalopathy, early infantile, 46; EIEE46" EXACT [MONDOLEX:0014947]
synonym: "epileptic encephalopathy, early infantile, type 46" EXACT [MONDORULE:2, OMIM:617162]
synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617162 {source="MONDO:equivalentTo"}
xref: UMLS:C4310687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310687

[Term]
id: MONDO:0014948
name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" EXACT [OMIM:617164]
synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD" EXACT [MONDOLEX:0014948]
synonym: "SRMMD" EXACT ABBREVIATION [MONDOLEX:0014948, OMIM:617164]
xref: OMIM:617164 {source="MONDO:equivalentTo"}
xref: UMLS:C4310686 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310686

[Term]
id: MONDO:0014949
name: epileptic encephalopathy, early infantile, 47
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in FGF12" EXACT [MONDO:design_pattern]
synonym: "EIEE47" EXACT ABBREVIATION [MONDOLEX:0014949, OMIM:617166]
synonym: "epileptic encephalopathy, early infantile, 47" EXACT [OMIM:617166]
synonym: "epileptic encephalopathy, early infantile, 47; EIEE47" EXACT [MONDOLEX:0014949]
synonym: "epileptic encephalopathy, early infantile, type 47" EXACT [MONDORULE:2, OMIM:617166]
synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617166 {source="MONDO:equivalentTo"}
xref: UMLS:C4310685 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! early infantile epileptic encephalopathy
is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310685

[Term]
id: MONDO:0014950
name: aortic aneurysm, familial thoracic 10
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AAT10" EXACT [OMIM:617168]
synonym: "aortic aneurysm, familial thoracic 10" EXACT [OMIM:617168]
synonym: "aortic aneurysm, familial thoracic 10; AAT10" RELATED [OMIM:617168]
synonym: "aortic aneurysm, familial thoracic type 10" EXACT [MONDORULE:2, OMIM:617168]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX" EXACT [MONDO:design_pattern]
synonym: "LOX familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617168 {source="MONDO:equivalentTo"}
xref: UMLS:C4284414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:617168", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/omim/617168
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284414

[Term]
id: MONDO:0014951
name: Sotos syndrome 3
def: "Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "APC2 Sotos syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Sotos syndrome 3" EXACT [OMIM:617169]
synonym: "Sotos syndrome 3; SOTOS3" RELATED [OMIM:617169]
synonym: "Sotos syndrome caused by mutation in APC2" EXACT [MONDO:design_pattern]
synonym: "Sotos syndrome type 3" EXACT [MONDORULE:1, OMIM:617169]
synonym: "SOTOS3" EXACT [OMIM:617169]
xref: OMIM:617169 {source="MONDO:equivalentTo"}
xref: UMLS:C4310684 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019349 {source="DC-OMIM:617169", source="MONDO:Redundant", source="OMIM:617169"} ! Sotos syndrome
property_value: exactMatch http://identifiers.org/omim/617169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310684

[Term]
id: MONDO:0014952
name: intellectual disability-epilepsy-extrapyramidal syndrome
subset: ordo_disease {source="Orphanet:468620"}
synonym: "DYSEIDD" RELATED [OMIM:617171]
synonym: "dyskinesia, seizures, and intellectual developmental disorder" RELATED [OMIM:617171]
synonym: "dyskinesia, seizures, and intellectual developmental disorder; DYSEIDD" RELATED [OMIM:617171]
xref: OMIM:617171 {source="Orphanet:468620", source="MONDO:equivalentTo", source="ORDO:468620/e"}
xref: Orphanet:468620 {source="MONDO:equivalentTo"}
xref: UMLS:C4310683 {source="MEDGEN:kboom-pr97-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:468620"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/617171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310683
property_value: exactMatch Orphanet:468620

[Term]
id: MONDO:0014953
name: gnb5-related intellectual disability-cardiac arrhythmia syndrome
subset: ordo_disease
synonym: "IDDCA" EXACT ABBREVIATION [MONDOLEX:0014953, OMIM:617173]
synonym: "intellectual developmental disorder with cardiac arrhythmia" EXACT [OMIM:617173]
synonym: "intellectual developmental disorder with cardiac arrhythmia; IDDCA" EXACT [MONDOLEX:0014953]
xref: OMIM:617173 {source="MONDO:equivalentTo", source="Orphanet:542306"}
xref: Orphanet:542306 {source="MONDO:equivalentTo"}
xref: UMLS:C4310682 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015110 {source="Orphanet:542306"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/omim/617173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310682
property_value: exactMatch Orphanet:542306

[Term]
id: MONDO:0014954
name: Ehlers-Danlos syndrome, periodontal type 2
synonym: "EDSPD2" RELATED [OMIM:617174]
synonym: "Ehlers-Danlos syndrome, periodontal type, 2" RELATED [OMIM:617174]
synonym: "Ehlers-Danlos syndrome, periodontal type, 2; EDSPD2" RELATED [OMIM:617174]
xref: OMIM:617174 {source="MONDO:equivalentTo"}
is_a: MONDO:0007527 {source="ORDO:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310681
property_value: exactMatch http://identifiers.org/omim/617174

[Term]
id: MONDO:0014955
name: retinal dystrophy with or without extraocular anomalies
synonym: "RDEOA" EXACT ABBREVIATION [MONDOLEX:0014955, OMIM:617175]
synonym: "retinal dystrophy with or without extraocular anomalies" EXACT [OMIM:617175]
synonym: "retinal dystrophy with or without extraocular anomalies; RDEOA" EXACT [MONDOLEX:0014955]
xref: OMIM:617175 {source="MONDO:equivalentTo"}
xref: UMLS:C4310680 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009979 ! reticular dystrophy of the retinal pigment epithelium
property_value: exactMatch http://identifiers.org/omim/617175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310680

[Term]
id: MONDO:0014956
name: Chitayat syndrome
synonym: "Chitayat syndrome" EXACT [OMIM:617180]
synonym: "Chitayat syndrome; CHYTS" EXACT [MONDOLEX:0014956]
synonym: "CHYTS" EXACT ABBREVIATION [MONDOLEX:0014956, OMIM:617180]
xref: OMIM:617180 {source="MONDO:equivalentTo"}
xref: UMLS:C4310679 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310679

[Term]
id: MONDO:0014957
name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
synonym: "LADCI" EXACT ABBREVIATION [MONDOLEX:0014957, OMIM:617182]
synonym: "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia" EXACT [OMIM:617182]
synonym: "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" EXACT [MONDOLEX:0014957]
xref: OMIM:617182 {source="MONDO:equivalentTo"}
xref: UMLS:C4310678 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310678

[Term]
id: MONDO:0014958
name: Harel-Yoon syndrome
synonym: "Harel-Yoon syndrome" EXACT [OMIM:617183]
synonym: "Harel-Yoon syndrome; HAYOS" EXACT [MONDOLEX:0014958]
synonym: "HAYOS" EXACT ABBREVIATION [MONDOLEX:0014958, OMIM:617183]
xref: OMIM:617183 {source="MONDO:equivalentTo"}
xref: UMLS:C4310677 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617183
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310677

[Term]
id: MONDO:0014959
name: mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant
synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" EXACT [OMIM:617184]
synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A" EXACT [MONDOLEX:0014959]
synonym: "MTDPS12A" EXACT ABBREVIATION [MONDOLEX:0014959, OMIM:617184]
xref: OMIM:617184 {source="MONDO:equivalentTo"}
xref: UMLS:C4310676 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="DC-OMIM:617184", source="OMIM:617184"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch http://identifiers.org/omim/617184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310676

[Term]
id: MONDO:0014960
name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
subset: ordo_disease
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186]
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT [MONDOLEX:0014960]
synonym: "PEBEL" EXACT ABBREVIATION [MONDOLEX:0014960, OMIM:617186]
xref: OMIMPS:617186 {source="MONDO:equivalentTo"}
xref: UMLS:C4310675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="Orphanet:555407"} ! neurometabolic disease
is_a: MONDO:0024237 {source="Orphanet:555407"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310675

[Term]
id: MONDO:0014961
name: spermatogenic failure 16
def: "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acephalic spermatozoa syndrome" RELATED [OMIM:617187]
synonym: "azoospermia caused by mutation in SUN5" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 16" EXACT [OMIM:617187]
synonym: "spermatogenic failure 16; SPGF16" EXACT [MONDOLEX:0014961]
synonym: "spermatogenic failure type 16" EXACT [MONDORULE:2, OMIM:617187]
synonym: "SPGF16" EXACT ABBREVIATION [MONDOLEX:0014961, OMIM:617187]
synonym: "SUN5 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070184 {source="MONDO:equivalentTo"}
xref: OMIM:617187 {source="MONDO:equivalentTo"}
xref: UMLS:C4310674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:617187", source="MONDO:Redundant", source="OMIM:617187"} ! azoospermia
property_value: exactMatch DOID:0070184
property_value: exactMatch http://identifiers.org/omim/617187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310674

[Term]
id: MONDO:0014962
name: intellectual disability, autosomal recessive 57
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 57; MRT57" EXACT [MONDOLEX:0014962]
synonym: "MBOAT7 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 57" EXACT [OMIM:617188]
synonym: "mental retardation, autosomal recessive 57; MRT57" RELATED [OMIM:617188]
synonym: "mental retardation, autosomal recessive type 57" EXACT [MONDORULE:2, OMIM:617188]
synonym: "MRT57" EXACT ABBREVIATION [MONDOLEX:0014962, OMIM:617188]
xref: OMIM:617188 {source="MONDO:equivalentTo"}
xref: UMLS:C4310673 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:617188", source="MONDO:Redundant", source="OMIM:617188"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310673

[Term]
id: MONDO:0014963
name: Shashi-Pena syndrome
synonym: "SHAPNS" EXACT ABBREVIATION [MONDOLEX:0014963, OMIM:617190]
synonym: "Shashi-Pena syndrome" EXACT [OMIM:617190]
synonym: "Shashi-Pena syndrome; SHAPNS" EXACT [MONDOLEX:0014963]
xref: OMIM:617190 {source="MONDO:equivalentTo"}
xref: UMLS:C4310672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310672

[Term]
id: MONDO:0014964
name: obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1623 xsd:string
is_obsolete: true
replaced_by: MONDO:0044646

[Term]
id: MONDO:0014965
name: lethal congenital contracture syndrome 11
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." [MONDO:design_pattern]
synonym: "GLDN lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS11" EXACT ABBREVIATION [MONDOLEX:0014965, OMIM:617194]
synonym: "lethal congenital contracture arthrogryposis-11" RELATED [GARD:0013220]
synonym: "lethal congenital contracture syndrome 11" EXACT [OMIM:617194]
synonym: "lethal congenital contracture syndrome 11; LCCS11" EXACT [MONDOLEX:0014965]
synonym: "lethal congenital contracture syndrome caused by mutation in GLDN" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 11" EXACT [MONDORULE:2, OMIM:617194]
xref: GARD:0013220 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:617194 {source="MONDO:equivalentTo"}
xref: UMLS:C4310670 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017436 {source="DC-OMIM:617194", source="MONDO:Redundant", source="OMIM:617194"} ! lethal congenital contracture syndrome
property_value: exactMatch http://identifiers.org/omim/617194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310670

[Term]
id: MONDO:0014966
name: periventricular nodular heterotopia 7
def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NEDD4L periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "periventricular nodular heterotopia 7" EXACT [OMIM:617201]
synonym: "periventricular nodular heterotopia 7; PVNH7" EXACT [MONDOLEX:0014966]
synonym: "periventricular nodular heterotopia caused by mutation in NEDD4L" EXACT [MONDO:design_pattern]
synonym: "periventricular nodular heterotopia type 7" EXACT [MONDORULE:1, OMIM:617201]
synonym: "PVNH7" EXACT ABBREVIATION [MONDOLEX:0014966, OMIM:617201]
xref: OMIM:617201 {source="MONDO:equivalentTo"}
xref: UMLS:C4310669 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020341 {source="DC-OMIM:617201", source="MONDO:Redundant", source="MONDOLEX:0014966"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/omim/617201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310669

[Term]
id: MONDO:0014967
name: heterotaxy, visceral, 8, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "heterotaxy, visceral, 8, autosomal" EXACT [OMIM:617205]
synonym: "heterotaxy, visceral, 8, autosomal; HTX8" EXACT [MONDOLEX:0014967]
synonym: "HTX8" EXACT ABBREVIATION [MONDOLEX:0014967]
synonym: "HTX8" RELATED [OMIM:617205]
synonym: "PKD1L1 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "visceral heterotaxy caused by mutation in PKD1L1" EXACT [MONDO:design_pattern]
xref: OMIM:617205 {source="MONDO:equivalentTo"}
xref: UMLS:C4310668 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0018677 {source="DC-OMIM:617205", source="MONDO:Redundant", source="MONDOLEX:0014967", source="OMIM:617205"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/omim/617205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310668

[Term]
id: MONDO:0014968
name: encephalopathy, progressive, with amyotrophy and optic atrophy
synonym: "encephalopathy, progressive, with amyotrophy and optic atrophy" EXACT [OMIM:617207]
synonym: "encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO" EXACT [MONDOLEX:0014968]
synonym: "PEAMO" EXACT ABBREVIATION [MONDOLEX:0014968, OMIM:617207]
xref: OMIM:617207 {source="MONDO:equivalentTo"}
xref: UMLS:C4310667 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310667

[Term]
id: MONDO:0014969
name: isolated sedoheptulokinase deficiency
subset: ordo_disease {source="Orphanet:440713"}
synonym: "isolated SHPK deficiency" EXACT [Orphanet:440713]
synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213]
synonym: "sedoheptulokinase deficiency; SHPKD" RELATED [OMIM:617213]
synonym: "SHPKD" EXACT [OMIM:617213]
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:617213 {source="MONDO:equivalentTo", source="Orphanet:440713"}
xref: Orphanet:440713 {source="MONDO:equivalentTo"}
xref: SCTID:124309005 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C1291373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019231 {source="Orphanet:440713"} ! inborn disorder of pentose phosphate metabolism
property_value: exactMatch http://identifiers.org/omim/617213
property_value: exactMatch http://identifiers.org/snomedct/124309005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291373
property_value: exactMatch Orphanet:440713

[Term]
id: MONDO:0014970
name: spermatogenic failure 17
def: "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in PLCZ1" EXACT [MONDO:design_pattern]
synonym: "Male infertility due to oocyte Activation failure" RELATED [OMIM:617214]
synonym: "PLCZ1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 17" EXACT [OMIM:617214]
synonym: "spermatogenic failure 17; SPGF17" EXACT [MONDOLEX:0014970]
synonym: "spermatogenic failure type 17" EXACT [MONDORULE:2, OMIM:617214]
synonym: "SPGF17" EXACT ABBREVIATION [MONDOLEX:0014970, OMIM:617214]
xref: DOID:0070174 {source="MONDO:equivalentTo"}
xref: OMIM:617214 {source="MONDO:equivalentTo"}
xref: UMLS:C4310666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="DC-OMIM:617214", source="MONDO:Redundant", source="OMIM:617214"} ! azoospermia
property_value: exactMatch DOID:0070174
property_value: exactMatch http://identifiers.org/omim/617214
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310666

[Term]
id: MONDO:0014971
name: amelogenesis imperfecta, hypomaturation type, IIa6
synonym: "AI2A6" EXACT ABBREVIATION [MONDOLEX:0014971, OMIM:617217]
synonym: "amelogenesis imperfecta, hypomaturation type, IIa6" EXACT [OMIM:617217]
synonym: "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6" EXACT [MONDOLEX:0014971]
xref: OMIM:617217 {source="MONDO:equivalentTo"}
xref: UMLS:C4310665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2
property_value: exactMatch http://identifiers.org/omim/617217
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310665

[Term]
id: MONDO:0014972
name: chromosome 19q13.11 deletion syndrome, proximal
xref: OMIM:617219 {source="MONDO:equivalentTo"}
xref: UMLS:C4311046 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000761 {source="DC-OMIM:617219"} ! syndrome caused by partial chromosomal deletion
property_value: exactMatch http://identifiers.org/omim/617219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4311046

[Term]
id: MONDO:0014973
name: sudden cardiac failure, infantile
synonym: "SCFI" EXACT ABBREVIATION [MONDOLEX:0014973]
synonym: "SCFI" RELATED [OMIM:617222]
synonym: "sudden Cardiac failure, infantile" EXACT [OMIM:617222]
synonym: "sudden cardiac failure, infantile; SCFI" EXACT [MONDOLEX:0014973]
xref: OMIM:617222 {source="MONDO:equivalentTo"}
xref: UMLS:C4310664 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310664

[Term]
id: MONDO:0014974
name: sudden cardiac failure, alcohol-induced
synonym: "SCFAI" EXACT ABBREVIATION [MONDOLEX:0014974, OMIM:617223]
synonym: "sudden Cardiac failure, alcohol-induced" EXACT [OMIM:617223]
synonym: "sudden cardiac failure, alcohol-induced; SCFAI" EXACT [MONDOLEX:0014974]
xref: OMIM:617223 {source="MONDO:equivalentTo"}
xref: UMLS:C4310663 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617223
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310663

[Term]
id: MONDO:0014975
name: autosomal recessive spastic paraplegia type 78
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease
synonym: "ATP13A2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in ATP13A2" EXACT [MONDO:design_pattern]
synonym: "spastic paraplegia 78, autosomal recessive" EXACT [OMIM:617225]
synonym: "spastic paraplegia 78, autosomal recessive; SPG78" EXACT [MONDOLEX:0014975]
synonym: "SPG78" EXACT ABBREVIATION [MONDOLEX:0014975, OMIM:617225]
xref: OMIM:617225 {source="Orphanet:513436", source="MONDO:equivalentTo"}
xref: Orphanet:513436 {source="MONDO:equivalentTo"}
xref: UMLS:C4310662 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:513436"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://identifiers.org/omim/617225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310662
property_value: exactMatch Orphanet:513436

[Term]
id: MONDO:0014976
name: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
def: "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." [Orphanet:478049]
subset: ordo_disease {source="Orphanet:478049"}
synonym: "combined oxidative phosphorylation deficiency 31" EXACT [OMIM:617228]
synonym: "combined oxidative phosphorylation deficiency 31; COXPD31" RELATED [OMIM:617228]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 31" EXACT [MONDORULE:2, OMIM:617228]
synonym: "COXPD31" EXACT [OMIM:617228]
synonym: "MIPEP combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617228 {source="Orphanet:478049", source="MONDO:equivalentTo"}
xref: Orphanet:478049 {source="MONDO:equivalentTo"}
xref: UMLS:C4310661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="DC-OMIM:617228", source="MONDO:Redundant", source="OMIM:617228"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005217 ! familial cardiomyopathy
is_a: MONDO:0016343 {source="Orphanet:478049"} ! unclassified cardiomyopathy
is_a: MONDO:0016578 {source="Orphanet:478049"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0019058 {source="Orphanet:478049"} ! neurometabolic disease
is_a: MONDO:0020225 {source="Orphanet:478049"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/omim/617228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310661
property_value: exactMatch Orphanet:478049

[Term]
id: MONDO:0014977
name: autosomal recessive limb-girdle muscular dystrophy type 2Z
alt_id: MONDO:0018817
def: "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." [NCIT:C142082]
subset: ordo_disease {source="Orphanet:480682"}
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" EXACT [MONDO:design_pattern]
synonym: "LGMD2Z" EXACT [OMIM:617232, Orphanet:480682]
synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [NCIT:C142082]
synonym: "muscular dystrophy, limb-girdle, type 2Z" EXACT [OMIM:617232]
synonym: "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: NCIT:C142082 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: OMIM:617232 {source="MONDO:equivalentTo"}
xref: Orphanet:480682 {source="MONDO:equivalentTo"}
xref: UMLS:C4310660 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN776834 {source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="MONDO:Redundant", source="MONDOLEX:0018817", source="OMIM:617232", source="Orphanet:480682"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0017742 {source="Orphanet:480682"} ! disorder of O-xylosylglycan synthesis
property_value: exactMatch http://identifiers.org/omim/617232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776834
property_value: exactMatch NCIT:C142082
property_value: exactMatch Orphanet:480682

[Term]
id: MONDO:0014978
name: preimplantation embryonic lethality 2
def: "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PADI6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "preimplantation embryonic lethality 2" EXACT [OMIM:617234]
synonym: "preimplantation embryonic lethality 2; PREMBL2" EXACT [MONDOLEX:0014978]
synonym: "preimplantation embryonic lethality caused by mutation in PADI6" EXACT [MONDO:design_pattern]
synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1, OMIM:617234]
synonym: "PREMBL2" EXACT ABBREVIATION [MONDOLEX:0014978, OMIM:617234]
xref: OMIM:617234 {source="MONDO:equivalentTo"}
xref: UMLS:C4310659 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000218 {source="DC-OMIM:617234", source="MONDO:Redundant", source="OMIM:617234"} ! preimplantation embryonic lethality
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617234
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310659

[Term]
id: MONDO:0014979
name: myoclonus, intractable, neonatal
synonym: "myoclonus, intractable, neonatal" EXACT [OMIM:617235]
synonym: "myoclonus, intractable, neonatal; NEIMY" EXACT [MONDOLEX:0014979]
synonym: "NEIMY" EXACT ABBREVIATION [MONDOLEX:0014979, OMIM:617235]
xref: OMIM:617235 {source="MONDO:equivalentTo"}
xref: UMLS:C4310658 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310658

[Term]
id: MONDO:0014980
name: cone-rod dystrophy and hearing loss
synonym: "cone-rod dystrophy and hearing loss" EXACT [OMIM:617236]
synonym: "cone-rod dystrophy and hearing loss; CRDHL" EXACT [MONDOLEX:0014980]
synonym: "CRDHL" EXACT ABBREVIATION [MONDOLEX:0014980, OMIM:617236]
xref: EFO:0009151 {source="MONDO:equivalentTo"}
xref: OMIMPS:617236 {source="MONDO:equivalentTo"}
xref: UMLS:C4310657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="EFO:0009151"} ! Mendelian disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310657

[Term]
id: MONDO:0014981
name: immunodeficiency 49
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCL11B primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD49" EXACT ABBREVIATION [MONDOLEX:0014981, OMIM:617237]
synonym: "immunodeficiency 49" EXACT [OMIM:617237]
synonym: "immunodeficiency 49; IMD49" EXACT [MONDOLEX:0014981]
synonym: "immunodeficiency type 49" EXACT [MONDORULE:2, OMIM:617237]
synonym: "primary immunodeficiency disease caused by mutation in BCL11B" EXACT [MONDO:design_pattern]
synonym: "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237]
synonym: "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237]
xref: OMIM:617237 {source="MONDO:equivalentTo"}
xref: UMLS:C4310656 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DC-OMIM:617237", source="MONDO:Redundant"} ! primary immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/617237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310656

[Term]
id: MONDO:0014982
name: myopia 25, autosomal dominant
def: "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopia (disease) caused by mutation in P4HA2" EXACT []
synonym: "myopia 25, autosomal dominant" EXACT [OMIM:617238]
synonym: "myopia 25, autosomal dominant; MYP25" EXACT [MONDOLEX:0014982]
synonym: "MYP25" EXACT ABBREVIATION [MONDOLEX:0014982, OMIM:617238]
synonym: "P4HA2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:617238 {source="MONDO:equivalentTo"}
xref: UMLS:C4310655 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="DC-OMIM:617238", source="MONDO:Redundant", source="OMIM:617238"} ! myopia (disease)
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310655

[Term]
id: MONDO:0014983
name: congenital myasthenic syndrome 21
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CMS21" EXACT [DOID:0110672, OMIM:617239]
synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [DOID:0110672]
synonym: "congenital myasthenic syndrome caused by mutation in SLC18A3" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 21" EXACT [DOID:0110672, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 21, presynaptic" EXACT [OMIM:617239]
synonym: "myasthenic syndrome, congenital, 21, presynaptic; CMS21" RELATED [OMIM:617239]
synonym: "SLC18A3 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110672 {source="MONDO:equivalentTo"}
xref: OMIM:617239 {source="MONDO:equivalentTo", source="DOID:0110672"}
xref: UMLS:C4310654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020345 ! presynaptic congenital myasthenic syndrome
property_value: exactMatch DOID:0110672
property_value: exactMatch http://identifiers.org/omim/617239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310654

[Term]
id: MONDO:0014984
name: lung disease, immunodeficiency, and chromosome breakage syndrome;
synonym: "LICS" RELATED [OMIM:617241]
synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" RELATED [OMIM:617241]
synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome; LICS" RELATED [OMIM:617241]
xref: OMIM:617241 {source="MONDO:equivalentTo"}
xref: UMLS:C4310653 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310653

[Term]
id: MONDO:0014985
name: Fanconi anemia complementation group v
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in MAD2L2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type V" EXACT [DOID:0111080, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 5" RELATED [OMIM:617243]
synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1, OMIM:617243]
synonym: "Fanconi Anemia, complementation group V" EXACT [OMIM:617243]
synonym: "Fanconi anemia, complementation GROUP V; FANCV" RELATED [OMIM:617243]
synonym: "FANCV" EXACT [DOID:0111080, OMIM:617243]
synonym: "MAD2L2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111080 {source="MONDO:equivalentTo"}
xref: OMIM:617243 {source="DOID:0111080", source="MONDO:equivalentTo"}
xref: UMLS:C4310652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:617243", source="DOID:0111080", source="MONDO:Redundant", source="OMIM:617243"} ! Fanconi anemia
property_value: exactMatch DOID:0111080
property_value: exactMatch http://identifiers.org/omim/617243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310652

[Term]
id: MONDO:0014986
name: Fanconi anemia complementation group r
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in RAD51" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type R" EXACT [DOID:0111090, MONDORULE:1]
synonym: "Fanconi Anemia, complementation group R" EXACT [OMIM:617244]
synonym: "Fanconi anemia, complementation GROUP R; FANCR" RELATED [OMIM:617244]
synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1, OMIM:617244]
synonym: "FANCR" EXACT [DOID:0111090, OMIM:617244]
synonym: "RAD51 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111090 {source="MONDO:equivalentTo"}
xref: OMIM:617244 {source="DOID:0111090", source="MONDO:equivalentTo"}
xref: UMLS:C4284093 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:617244", source="DOID:0111090", source="MONDO:Redundant", source="OMIM:617244"} ! Fanconi anemia
property_value: exactMatch DOID:0111090
property_value: exactMatch http://identifiers.org/omim/617244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284093

[Term]
id: MONDO:0014987
name: Fanconi anemia complementation group U
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in XRCC2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type U" EXACT [DOID:0111085, MONDORULE:1]
synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1, OMIM:617247]
synonym: "Fanconi Anemia, complementation group U" EXACT [OMIM:617247]
synonym: "Fanconi anemia, complementation GROUP U; FANCU" RELATED [OMIM:617247]
synonym: "FANCU" EXACT [DOID:0111085, OMIM:617247]
synonym: "XRCC2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111085 {source="MONDO:equivalentTo"}
xref: OMIM:617247 {source="DOID:0111085", source="MONDO:equivalentTo"}
xref: UMLS:C4310651 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="DC-OMIM:617247", source="DOID:0111085", source="MONDO:Redundant", source="OMIM:617247"} ! Fanconi anemia
property_value: exactMatch DOID:0111085
property_value: exactMatch http://identifiers.org/omim/617247
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310651

[Term]
id: MONDO:0014988
name: obsolete 3-methylglutaconic aciduria, type VIII
comment: Duplicate
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0044723

[Term]
id: MONDO:0014989
name: uncombable hair syndrome 2
def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "TGM3 uncombable hair syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UHS2" EXACT ABBREVIATION [MONDOLEX:0014989]
synonym: "UHS2" RELATED [OMIM:617251]
synonym: "uncombable hair syndrome 2" EXACT [OMIM:617251]
synonym: "uncombable hair syndrome 2; UHS2" EXACT [MONDOLEX:0014989]
synonym: "uncombable hair syndrome caused by mutation in TGM3" EXACT [MONDO:design_pattern]
synonym: "uncombable hair syndrome type 2" EXACT [MONDORULE:1, OMIM:617251]
xref: OMIM:617251 {source="MONDO:equivalentTo"}
xref: UMLS:C4310649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome
property_value: exactMatch http://identifiers.org/omim/617251
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310649

[Term]
id: MONDO:0014990
name: uncombable hair syndrome 3
def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "TCHH uncombable hair syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UHS3" EXACT ABBREVIATION [MONDOLEX:0014990]
synonym: "UHS3" RELATED [OMIM:617252]
synonym: "uncombable hair syndrome 3" EXACT [OMIM:617252]
synonym: "uncombable hair syndrome 3; UHS3" EXACT [MONDOLEX:0014990]
synonym: "uncombable hair syndrome caused by mutation in TCHH" EXACT [MONDO:design_pattern]
synonym: "uncombable hair syndrome type 3" EXACT [MONDORULE:1, OMIM:617252]
xref: OMIM:617252 {source="MONDO:equivalentTo"}
xref: UMLS:C4310648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome
property_value: exactMatch http://identifiers.org/omim/617252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310648

[Term]
id: MONDO:0014991
name: Seckel syndrome 10
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "NSMCE2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL10" EXACT [DOID:0070008, OMIM:617253]
synonym: "Seckel syndrome 10" EXACT [OMIM:617253]
synonym: "Seckel syndrome 10; SCKL10" RELATED [OMIM:617253]
synonym: "Seckel syndrome caused by mutation in NSMCE2" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 10" EXACT [MONDORULE:2, OMIM:617253]
xref: DOID:0070008 {source="MONDO:equivalentTo"}
xref: OMIM:617253 {source="MONDO:equivalentTo", source="DOID:0070008"}
xref: UMLS:C4310647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018575 ! microcephalic primordial dwarfism-insulin resistance syndrome
is_a: MONDO:0019342 {source="DC-OMIM:617253", source="DOID:0070008", source="MONDO:Redundant", source="MONDOLEX:0014991", source="OMIM:617253"} ! Seckel syndrome
property_value: exactMatch DOID:0070008
property_value: exactMatch http://identifiers.org/omim/617253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310647

[Term]
id: MONDO:0014992
name: lissencephaly 8
def: "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "LIS8" EXACT ABBREVIATION [MONDOLEX:0014992]
synonym: "LIS8" RELATED [OMIM:617255]
synonym: "lissencephaly (disease) caused by mutation in TMTC3" EXACT []
synonym: "lissencephaly 8" EXACT [OMIM:617255]
synonym: "lissencephaly 8; LIS8" EXACT [MONDOLEX:0014992]
synonym: "lissencephaly type 8" EXACT [MONDORULE:1, OMIM:617255]
synonym: "TMTC3 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:617255 {source="MONDO:equivalentTo"}
xref: UMLS:C4310646 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="DC-OMIM:617255", source="MONDO:Redundant", source="OMIM:617255"} ! lissencephaly spectrum disorders
property_value: exactMatch http://identifiers.org/omim/617255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310646

[Term]
id: MONDO:0014993
name: myofibrillar myopathy 8
def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MFM8" RELATED [OMIM:617258]
synonym: "myofibrillar myopathy (disease) caused by mutation in PYROXD1" EXACT []
synonym: "myopathy, myofibrillar, 8" EXACT [OMIM:617258]
synonym: "myopathy, myofibrillar, 8; MFM8" RELATED [OMIM:617258]
synonym: "myopathy, myofibrillar, type 8" EXACT [MONDORULE:1, OMIM:617258]
synonym: "PYROXD1 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080308 {source="MONDO:equivalentTo"}
xref: OMIM:617258 {source="MONDO:equivalentTo", source="DOID:0080308"}
xref: UMLS:C4310645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:617258"} ! myofibrillar myopathy (disease)
property_value: exactMatch DOID:0080308
property_value: exactMatch http://identifiers.org/omim/617258
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310645

[Term]
id: MONDO:0014994
name: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
synonym: "GDACCF" EXACT ABBREVIATION [MONDOLEX:0014994, OMIM:617260]
synonym: "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" EXACT [OMIM:617260]
synonym: "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" EXACT [MONDOLEX:0014994]
xref: OMIM:617260 {source="MONDO:equivalentTo"}
xref: UMLS:C4310644 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310644

[Term]
id: MONDO:0014995
name: neurodevelopmental disorder with hypotonia, seizures, and absent language
synonym: "NDHSAL" EXACT ABBREVIATION [MONDOLEX:0014995, OMIM:617268]
synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent language" EXACT [OMIM:617268]
synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL" EXACT [MONDOLEX:0014995]
xref: OMIM:617268 {source="MONDO:equivalentTo"}
xref: UMLS:C4310643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310643

[Term]
id: MONDO:0014996
name: intellectual disability, autosomal recessive 58
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive intellectual disability 58" RELATED [GARD:0013361]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2" EXACT [MONDO:design_pattern]
synonym: "ELP2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ELP2-related disorder" RELATED [GARD:0013361]
synonym: "intellectual disability, autosomal recessive 58; MRT58" EXACT [MONDOLEX:0014996]
synonym: "mental retardation, autosomal recessive 58" EXACT [OMIM:617270]
synonym: "mental retardation, autosomal recessive 58; MRT58" RELATED [OMIM:617270]
synonym: "mental retardation, autosomal recessive type 58" EXACT [MONDORULE:2, OMIM:617270]
synonym: "MRT58" EXACT ABBREVIATION [MONDOLEX:0014996, OMIM:617270]
xref: GARD:0013361 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:617270 {source="MONDO:equivalentTo"}
xref: UMLS:C4310641 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:617270", source="MONDO:Redundant", source="OMIM:617270"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617270
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310641

[Term]
id: MONDO:0014997
name: nephronophthisis 20
def: "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "MAPKBP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in MAPKBP1" EXACT []
synonym: "nephronophthisis 20" EXACT [OMIM:617271]
synonym: "nephronophthisis 20; NPHP20" RELATED [OMIM:617271]
synonym: "nephronophthisis type 20" EXACT [DOID:0111127, MONDORULE:2, OMIM:617271]
synonym: "NPHP20" EXACT [DOID:0111127, OMIM:617271]
xref: DOID:0111127 {source="MONDO:equivalentTo"}
xref: OMIM:617271 {source="DOID:0111127", source="MONDO:equivalentTo"}
xref: UMLS:C4310640 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="DC-OMIM:617271", source="DOID:0111127", source="MONDO:Redundant", source="OMIM:617271"} ! nephronophthisis (disease)
property_value: exactMatch DOID:0111127
property_value: exactMatch http://identifiers.org/omim/617271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310640

[Term]
id: MONDO:0014998
name: glaucoma 3, primary congenital, E
synonym: "glaucoma 3, primary congenital, E" EXACT [OMIM:617272]
synonym: "glaucoma 3, primary congenital, E; GLC3E" EXACT [MONDOLEX:0014998]
synonym: "glaucoma 3, primary congenital, type E" EXACT [MONDORULE:1, OMIM:617272]
synonym: "GLC3E" EXACT ABBREVIATION [MONDOLEX:0014998, OMIM:617272]
xref: OMIM:617272 {source="MONDO:equivalentTo"}
xref: UMLS:C4310639 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0020366 ! congenital glaucoma
property_value: exactMatch http://identifiers.org/omim/617272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310639

[Term]
id: MONDO:0014999
name: tooth agenesis, selective, 9
def: "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "GREM2 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG9" EXACT ABBREVIATION [MONDOLEX:0014999, OMIM:617275]
synonym: "tooth agenesis caused by mutation in GREM2" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 9" EXACT [OMIM:617275]
synonym: "tooth agenesis, selective, 9; STHAG9" EXACT [MONDOLEX:0014999]
synonym: "tooth agenesis, selective, type 9" EXACT [MONDORULE:1, OMIM:617275]
xref: OMIM:617275 {source="MONDO:equivalentTo"}
is_a: MONDO:0005486 {source="DC-OMIM:617275", source="MONDO:Redundant", source="OMIM:617275"} ! tooth agenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310638
property_value: exactMatch http://identifiers.org/omim/617275

[Term]
id: MONDO:0015000
name: epileptic encephalopathy, early infantile, 48
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "AP3B2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in AP3B2" EXACT [MONDO:design_pattern]
synonym: "EIEE48" EXACT ABBREVIATION [MONDOLEX:0015000, OMIM:617276]
synonym: "epileptic encephalopathy, early infantile, 48" EXACT [OMIM:617276]
synonym: "epileptic encephalopathy, early infantile, 48; EIEE48" EXACT [MONDOLEX:0015000]
synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2, OMIM:617276]
xref: OMIM:617276 {source="MONDO:equivalentTo"}
xref: UMLS:C4310637 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617276", source="MONDO:Redundant", source="OMIM:617276"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617276
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310637

[Term]
id: MONDO:0015001
name: atrial fibrillation, familial, 18
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATFB18" EXACT ABBREVIATION [MONDOLEX:0015001, OMIM:617280]
synonym: "atrial fibrillation, familial, 18" EXACT [OMIM:617280]
synonym: "atrial fibrillation, familial, 18; ATFB18" EXACT [MONDOLEX:0015001]
synonym: "atrial fibrillation, familial, type 18" EXACT [MONDORULE:2, OMIM:617280]
synonym: "familial atrial fibrillation caused by mutation in MYL4" EXACT [MONDO:design_pattern]
synonym: "MYL4 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617280 {source="MONDO:equivalentTo"}
xref: UMLS:C4310636 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018054 {source="DC-OMIM:617280", source="MONDO:Redundant", source="MONDOLEX:0015001", source="OMIM:617280"} ! familial atrial fibrillation
property_value: exactMatch http://identifiers.org/omim/617280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310636

[Term]
id: MONDO:0015002
name: epileptic encephalopathy, early infantile, 49
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DENND5A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in DENND5A" EXACT [MONDO:design_pattern]
synonym: "EIEE49" EXACT ABBREVIATION [MONDOLEX:0015002, OMIM:617281]
synonym: "epileptic encephalopathy, early infantile, 49" EXACT [OMIM:617281]
synonym: "epileptic encephalopathy, early infantile, 49; EIEE49" EXACT [MONDOLEX:0015002]
synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2, OMIM:617281]
xref: OMIM:617281 {source="MONDO:equivalentTo"}
xref: UMLS:C4310635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617281", source="MONDO:Redundant", source="OMIM:617281"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310635

[Term]
id: MONDO:0015003
name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
subset: ordo_malformation_syndrome
synonym: "dystonia 29, childhood-onset" RELATED [OMIM:617282]
synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" EXACT [OMIM:617282]
synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG" EXACT [MONDOLEX:0015003]
synonym: "DYTOABG" EXACT ABBREVIATION [MONDOLEX:0015003, OMIM:617282]
xref: OMIM:617282 {source="MONDO:equivalentTo", source="Orphanet:508093"}
xref: Orphanet:508093 {source="MONDO:equivalentTo"}
xref: UMLS:C4310634 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018329 {source="Orphanet:508093"} ! persistent combined dystonia
is_a: MONDO:0018424 {source="Orphanet:508093"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0018609 {source="Orphanet:508093"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019058 {source="Orphanet:508093"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0024237 {source="Orphanet:508093"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/omim/617282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310634
property_value: exactMatch Orphanet:508093

[Term]
id: MONDO:0015004
name: dystonia 28, childhood-onset
def: "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 28, childhood-onset" EXACT [OMIM:617284]
synonym: "dystonia 28, childhood-onset; DYT28" EXACT [MONDOLEX:0015004]
synonym: "dystonic disorder caused by mutation in KMT2B" EXACT [MONDO:design_pattern]
synonym: "DYT28" EXACT ABBREVIATION [MONDOLEX:0015004, OMIM:617284]
synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617284 {source="MONDO:equivalentTo"}
xref: UMLS:C4310633 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0044807 ! inherited dystonia
property_value: exactMatch http://identifiers.org/omim/617284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310633

[Term]
id: MONDO:0015005
name: epilepsy, early-onset, vitamin B6-dependent
synonym: "epilepsy, early-onset, vitamin B6-dependent" EXACT [OMIM:617290]
synonym: "epilepsy, early-onset, vitamin B6-dependent; EPVB6D" EXACT [MONDOLEX:0015005]
synonym: "EPVB6D" EXACT ABBREVIATION [MONDOLEX:0015005, OMIM:617290]
xref: OMIM:617290 {source="MONDO:equivalentTo"}
xref: UMLS:C4310632 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009945 ! pyridoxine-dependent epilepsy
property_value: exactMatch http://identifiers.org/omim/617290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310632

[Term]
id: MONDO:0015006
name: generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
subset: ordo_disease
synonym: "EBSSH" EXACT ABBREVIATION [MONDOLEX:0015006, OMIM:617294]
synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss" EXACT [OMIM:617294]
synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" EXACT [MONDOLEX:0015006]
xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"}
xref: Orphanet:508529 {source="MONDO:equivalentTo"}
xref: UMLS:C4310631 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015551 {source="Orphanet:508529"} ! basal epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/omim/617294
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310631
property_value: exactMatch Orphanet:508529

[Term]
id: MONDO:0015007
name: spastic paraplegia, intellectual disability, nystagmus, and obesity;
subset: ordo_malformation_syndrome
synonym: "SINO" RELATED [OMIM:617296]
synonym: "spastic paraplegia, intellectual disability, nystagmus, and obesity" RELATED [OMIM:617296]
synonym: "spastic paraplegia, intellectual disability, nystagmus, and obesity; SINO" RELATED [OMIM:617296]
xref: OMIM:617296 {source="MONDO:equivalentTo", source="Orphanet:521390"}
xref: Orphanet:521390 {source="MONDO:equivalentTo"}
xref: UMLS:C4284592 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015087 {source="Orphanet:521390"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0016565 {source="Orphanet:521390"} ! syndromic genetic obesity
property_value: exactMatch http://identifiers.org/omim/617296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284592
property_value: exactMatch Orphanet:521390

[Term]
id: MONDO:0015008
name: amelogenesis imperfecta, type 1J
synonym: "AI1J" RELATED [OMIM:617297]
synonym: "amelogenesis imperfecta, type 1J" RELATED [OMIM:617297]
synonym: "amelogenesis imperfecta, type Ij" EXACT [OMIM:617297]
xref: OMIM:617297 {source="MONDO:equivalentTo"}
is_a: MONDO:0015047 ! amelogenesis imperfecta type 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310630
property_value: exactMatch http://identifiers.org/omim/617297

[Term]
id: MONDO:0015009
name: hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
subset: predisposition
synonym: "HFASD" EXACT ABBREVIATION [MONDOLEX:0015009, OMIM:617300]
synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" EXACT [OMIM:617300]
synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD" EXACT [MONDOLEX:0015009]
xref: OMIM:617300 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310629
property_value: exactMatch http://identifiers.org/omim/617300

[Term]
id: MONDO:0015010
name: atypical glycine encephalopathy
def: "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." [Orphanet:289863]
subset: ordo_clinical_subtype {source="Orphanet:289863"}
synonym: "atypical NKA" EXACT [Orphanet:289863]
synonym: "atypical non-ketotic hyperglycinemia" EXACT [Orphanet:289863]
synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [OMIM:617301]
synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [OMIM:617301]
xref: ICD10:E72.5 {source="Orphanet:289863", source="ORDO:289863/attributed", source="ORDO:289863/ntbt"}
xref: OMIM:617301 {source="Orphanet:289863", source="MONDO:equivalentTo"}
xref: Orphanet:289863 {source="MONDO:equivalentTo"}
xref: UMLS:C4310943 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0011612 {source="Orphanet:289863"} ! glycine encephalopathy
property_value: exactMatch http://identifiers.org/omim/617301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310943
property_value: exactMatch Orphanet:289863

[Term]
id: MONDO:0015011
name: optic atrophy 11
def: "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive isolated optic atrophy caused by mutation in YME1L1" EXACT [MONDO:design_pattern]
synonym: "OPA11" EXACT [OMIM:617302]
synonym: "optic atrophy 11" EXACT [OMIM:617302]
synonym: "optic atrophy type 11" EXACT [MONDORULE:2, OMIM:617302]
synonym: "YME1L1 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617302 {source="MONDO:equivalentTo"}
xref: UMLS:C4310628 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
xref: UMLS:CN230145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0014753 {source="MONDO:Redundant"} ! autosomal recessive optic atrophy
property_value: exactMatch http://identifiers.org/omim/617302
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230145

[Term]
id: MONDO:0015012
name: mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
subset: ordo_malformation_syndrome
synonym: "MPSPS" EXACT [OMIM:617303]
synonym: "mucopolysaccharidosis-like plus disease" EXACT [Orphanet:505248]
synonym: "mucopolysaccharidosis-plus syndrome" EXACT [OMIM:617303]
synonym: "mucopolysaccharidosis-plus syndrome; MPSPS" RELATED [OMIM:617303]
xref: OMIM:617303 {source="MONDO:equivalentTo", source="Orphanet:505248"}
xref: Orphanet:505248 {source="MONDO:equivalentTo"}
xref: UMLS:C4310627 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505248", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:505248"} ! respiratory system disease
is_a: MONDO:0015159 {source="Orphanet:505248"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019249 {source="MONDO:cjm"} ! mucopolysaccharidosis
is_a: MONDO:0019711 {source="Orphanet:505248"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617303
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310627
property_value: exactMatch Orphanet:505248

[Term]
id: MONDO:0015013
name: retinitis pigmentosa 77
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "REEP6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 77" EXACT [OMIM:617304]
synonym: "retinitis pigmentosa caused by mutation in REEP6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 77" EXACT [MONDORULE:2, OMIM:617304]
synonym: "RP77" RELATED [OMIM:617304]
xref: DOID:0080350 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.5 {source="DOID:0080350"}
xref: OMIM:617304 {source="DOID:0080350", source="MONDO:equivalentTo"}
xref: UMLS:C4310626 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DC-OMIM:617304", source="DOID:0080350", source="MONDO:Redundant", source="OMIM:617304"} ! retinitis pigmentosa
property_value: exactMatch DOID:0080350
property_value: exactMatch http://identifiers.org/omim/617304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310626

[Term]
id: MONDO:0015014
name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" EXACT [OMIM:617306]
synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD" EXACT [MONDOLEX:0015014]
synonym: "COMMAD" EXACT ABBREVIATION [MONDOLEX:0015014, OMIM:617306]
xref: OMIM:617306 {source="MONDO:equivalentTo"}
xref: UMLS:C4310625 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310625

[Term]
id: MONDO:0015015
name: congenital bile acid synthesis defect 6
def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACOX2 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "bile acid synthesis defect, congenital, 6" EXACT [OMIM:617308]
synonym: "bile acid synthesis defect, congenital, 6; CBAS6" RELATED [OMIM:617308]
synonym: "bile acid synthesis defect, congenital, type 6" EXACT [MONDORULE:1, OMIM:617308]
synonym: "CBAS6" EXACT [DOID:0111067, OMIM:617308]
synonym: "congenital bile acid synthesis defect caused by mutation in ACOX2" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 6" EXACT [DOID:0111067, MONDORULE:1]
xref: DOID:0111067 {source="MONDO:equivalentTo"}
xref: OMIM:617308 {source="MONDO:equivalentTo", source="DOID:0111067"}
xref: UMLS:C4310624 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018841 {source="DC-OMIM:617308", source="DOID:0111067", source="MONDO:Redundant", source="OMIM:617308"} ! congenital bile acid synthesis defect
property_value: exactMatch DOID:0111067
property_value: exactMatch http://identifiers.org/omim/617308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310624

[Term]
id: MONDO:0015016
name: anterior segment dysgenesis 6
synonym: "anterior segment dysgenesis 6" EXACT [OMIM:617315]
synonym: "anterior segment dysgenesis 6; ASGD6" RELATED [OMIM:617315]
synonym: "anterior segment dysgenesis type 6" EXACT [MONDORULE:1, OMIM:617315]
synonym: "ASGD6" EXACT [OMIM:617315]
xref: OMIM:617315 {source="MONDO:equivalentTo"}
xref: UMLS:C4310623 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019503 {source="DC-OMIM:617315", source="OMIM:617315"} ! anterior segment dysgenesis
property_value: exactMatch http://identifiers.org/omim/617315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310623

[Term]
id: MONDO:0015017
name: anterior segment dysgenesis 8
def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "anterior segment dysgenesis 8" EXACT [OMIM:617319]
synonym: "anterior segment dysgenesis 8; ASGD8" RELATED [OMIM:617319]
synonym: "anterior segment dysgenesis caused by mutation in CPAMD8" EXACT [MONDO:design_pattern]
synonym: "anterior segment dysgenesis type 8" EXACT [MONDORULE:1, OMIM:617319]
synonym: "ASGD8" EXACT [OMIM:617319]
synonym: "CPAMD8 anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617319 {source="MONDO:equivalentTo"}
xref: UMLS:C4310622 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019503 {source="DC-OMIM:617319", source="MONDO:Redundant", source="OMIM:617319"} ! anterior segment dysgenesis
property_value: exactMatch http://identifiers.org/omim/617319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310622

[Term]
id: MONDO:0015018
name: ichthyosis, congenital, autosomal recessive 12
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ARCI12" EXACT ABBREVIATION [MONDOLEX:0015018, OMIM:617320]
synonym: "ichthyosis, congenital, autosomal recessive 12" EXACT [OMIM:617320]
synonym: "ichthyosis, congenital, autosomal recessive 12; ARCI12" EXACT [MONDOLEX:0015018]
synonym: "ichthyosis, congenital, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:617320]
xref: OMIM:617320 {source="MONDO:equivalentTo"}
xref: UMLS:C4310621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017265 {source="DC-OMIM:617320", source="MONDO:Redundant", source="OMIM:617320"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch http://identifiers.org/omim/617320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310621

[Term]
id: MONDO:0015019
name: susceptibility to Yao syndrome
subset: predisposition
synonym: "Yao syndrome" EXACT [OMIM:617321]
synonym: "YAOS" RELATED [OMIM:617321]
xref: OMIM:617321 {source="MONDO:equivalentTo"}
xref: SCTID:768667002 {source="MONDO:equivalentTo"}
xref: UMLS:C4310620 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617321
property_value: exactMatch http://identifiers.org/snomedct/768667002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310620

[Term]
id: MONDO:0015020
name: intellectual disability, autosomal recessive 59
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1" EXACT [MONDO:design_pattern]
synonym: "IMPA1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 59; MRT59" EXACT [MONDOLEX:0015020]
synonym: "mental retardation, autosomal recessive 59" EXACT [OMIM:617323]
synonym: "mental retardation, autosomal recessive 59; MRT59" RELATED [OMIM:617323]
synonym: "mental retardation, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:617323]
synonym: "MRT59" EXACT ABBREVIATION [MONDOLEX:0015020, OMIM:617323]
xref: OMIM:617323 {source="MONDO:equivalentTo"}
xref: UMLS:C4310619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DC-OMIM:617323", source="MONDO:Redundant", source="OMIM:617323"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/617323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310619

[Term]
id: MONDO:0015021
name: hypotonia, ataxia, and delayed development syndrome
synonym: "HADDS" EXACT ABBREVIATION [MONDOLEX:0015021, OMIM:617330]
synonym: "hypotonia, ataxia, and delayed development syndrome" EXACT [OMIM:617330]
synonym: "hypotonia, ataxia, and delayed development syndrome; HADDS" EXACT [MONDOLEX:0015021]
xref: OMIM:617330 {source="MONDO:equivalentTo"}
xref: UMLS:C4310618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617330
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310618

[Term]
id: MONDO:0015022
name: intellectual developmental disorder with dysmorphic facies and ptosis
synonym: "IDDDFP" EXACT ABBREVIATION [MONDOLEX:0015022, OMIM:617333]
synonym: "intellectual developmental disorder with dysmorphic facies and ptosis" EXACT [OMIM:617333]
synonym: "intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP" EXACT [MONDOLEX:0015022]
xref: EFO:0009070 {source="MONDO:equivalentTo"}
xref: OMIM:617333 {source="MONDO:equivalentTo"}
xref: UMLS:C4310617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="EFO:0009070"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310617

[Term]
id: MONDO:0015023
name: MYPN-related myopathy
def: "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." [https://clinicalgenome.org/affiliation/40031/, PMID:28017374]
synonym: "MYPN nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM11" EXACT [DOID:0110933, OMIM:617336]
synonym: "nemaline myopathy 11" EXACT [https://clinicalgenome.org/affiliation/40031/]
synonym: "nemaline myopathy 11, autosomal recessive" EXACT [DOID:0110933, OMIM:617336]
synonym: "nemaline myopathy 11, autosomal recessive; NEM11" RELATED [OMIM:617336]
synonym: "nemaline myopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 11" EXACT [DOID:0110933, MONDORULE:2]
xref: DOID:0110933 {source="MONDO:equivalentTo"}
xref: OMIM:617336 {source="DOID:0110933", source="MONDO:equivalentTo"}
xref: UMLS:C4479186 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C4479695 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN240509 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0018958 {source="DC-OMIM:617336", source="DOID:0110933", source="MONDO:Redundant", source="OMIM:617336"} ! nemaline myopathy
property_value: exactMatch DOID:0110933
property_value: exactMatch http://identifiers.org/omim/617336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479186
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240509

[Term]
id: MONDO:0015024
name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
def: "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ECTD12" EXACT ABBREVIATION [MONDOLEX:0015024, OMIM:617337]
synonym: "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type" EXACT [OMIM:617337]
synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12" EXACT [MONDOLEX:0015024]
synonym: "ectodermal dysplasia syndrome caused by mutation in KDF1" EXACT [MONDO:design_pattern]
synonym: "KDF1 ectodermal dysplasia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617337 {source="MONDO:equivalentTo"}
xref: UMLS:C4310616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="DC-OMIM:617337", source="MONDO:Redundant", source="MONDOLEX:0015024", source="OMIM:617337"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/omim/617337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310616

[Term]
id: MONDO:0015025
name: epileptic encephalopathy, early infantile, 51
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "early infantile epileptic encephalopathy caused by mutation in MDH2" EXACT [MONDO:design_pattern]
synonym: "EIEE51" EXACT ABBREVIATION [MONDOLEX:0015025, OMIM:617339]
synonym: "epileptic encephalopathy, early infantile, 51" EXACT [OMIM:617339]
synonym: "epileptic encephalopathy, early infantile, 51; EIEE51" EXACT [MONDOLEX:0015025]
synonym: "epileptic encephalopathy, early infantile, type 51" EXACT [MONDORULE:2, OMIM:617339]
synonym: "MDH2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617339 {source="MONDO:equivalentTo"}
xref: UMLS:C4479208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN240510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DC-OMIM:617339", source="MONDO:Redundant", source="OMIM:617339"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617339
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240510

[Term]
id: MONDO:0015026
name: cerebroretinal microangiopathy with calcifications and cysts 2
def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebroretinal microangiopathy with calcifications and cysts 2" RELATED [OMIM:617341]
synonym: "cerebroretinal microangiopathy with calcifications and cysts 2; CRMCC2" RELATED [OMIM:617341]
synonym: "cerebroretinal microangiopathy with calcifications and cysts type 2" EXACT [MONDORULE:4, OMIM:617341]
synonym: "Coats plus syndrome caused by mutation in STN1" EXACT [MONDO:design_pattern]
synonym: "CRMCC2" RELATED [OMIM:617341]
synonym: "STN1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617341 {source="MONDO:equivalentTo"}
xref: UMLS:CN240513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:617341"} ! Coats plus syndrome
property_value: exactMatch http://identifiers.org/omim/617341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240513

[Term]
id: MONDO:0015027
name: familial isolated hyperparathyroidism
def: "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." [NCIT:C94830]
subset: ordo_disease {source="Orphanet:99879"}
synonym: "familial isolated hyperparathyroidism" EXACT [NCIT:C94830]
synonym: "FIHP" EXACT [NCIT:C94830]
synonym: "FIHPT" EXACT [Orphanet:99879]
synonym: "hyperparathyroidism type 4" EXACT [MONDORULE:1, OMIM:617343]
xref: ICD10:E21.0 {source="Orphanet:99879", source="ORDO:99879/attributed", source="ORDO:99879/ntbt"}
xref: NCIT:C94830 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.35"}
xref: Orphanet:99879 {source="MONDO:equivalentTo"}
xref: UMLS:CN207422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="NCIT:C94830"} ! hereditary neoplastic syndrome
is_a: MONDO:0016365 {source="Orphanet:99879"} ! familial primary hyperparathyroidism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207422
property_value: exactMatch NCIT:C94830
property_value: exactMatch Orphanet:99879

[Term]
id: MONDO:0015028
name: 48,XXYY syndrome
def: "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." [Orphanet:10]
subset: gard_rare {source="GARD:0005677"}
subset: ordo_malformation_syndrome {source="Orphanet:10"}
synonym: "48, XXYY syndrome" EXACT [NCIT:C89801]
synonym: "48,XXYY Klinefelter syndrome" RELATED [GARD:0005677]
synonym: "48,XXYY variant of Klinefelter's syndrome" RELATED [GARD:0005677]
synonym: "XXYY syndrome" RELATED [GARD:0005677]
xref: GARD:0005677 {source="MONDO:equivalentTo"}
xref: ICD10:Q98.8 {source="Orphanet:10", source="ORDO:10/attributed", source="ORDO:10/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048230 {source="Orphanet:10", source="ORDO:10/e"}
xref: NCIT:C89801 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.47"}
xref: Orphanet:10 {source="MONDO:equivalentTo"}
xref: SCTID:403760006 {source="MONDO:kboom-pr-1.00/0.79/8.44", source="MONDO:equivalentTo"}
xref: UMLS:C2936741 {source="Orphanet:10", source="ORDO:10/e", source="MONDO:equivalentTo", source="NCIT:C89801"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:10"} ! syndromic urogenital tract malformation
is_a: MONDO:0017006 {source="Orphanet:10"} ! X and Y chromosomal anomaly
is_a: MONDO:0017975 {source="Orphanet:10"} ! sex chromosome disorder of sex development
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/meddra/10048230
property_value: exactMatch http://identifiers.org/mesh/D007713
property_value: exactMatch http://identifiers.org/snomedct/403760006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936741
property_value: exactMatch NCIT:C89801
property_value: exactMatch Orphanet:10
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome xsd:anyURI {source="GARD:0005677"}

[Term]
id: MONDO:0015029
name: reticular perineurioma
subset: ordo_clinical_subtype {source="Orphanet:100000"}
xref: Orphanet:100000 {source="MONDO:equivalentTo"}
xref: UMLS:CN197319 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015031 {source="Orphanet:100000"} ! extraneural perineurioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197319
property_value: exactMatch Orphanet:100000

[Term]
id: MONDO:0015030
name: sclerosing perineurioma
subset: ordo_clinical_subtype {source="Orphanet:100001"}
xref: Orphanet:100001 {source="MONDO:equivalentTo"}
xref: UMLS:CN197320 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015031 {source="Orphanet:100001"} ! extraneural perineurioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197320
property_value: exactMatch Orphanet:100001

[Term]
id: MONDO:0015031
name: extraneural perineurioma
def: "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." [Orphanet:100002]
subset: ordo_disease {source="Orphanet:100002"}
synonym: "soft tissue perineurioma" EXACT [Orphanet:100002]
xref: Orphanet:100002 {source="MONDO:equivalentTo"}
xref: SCTID:768926005 {source="MONDO:equivalentTo"}
xref: UMLS:CN197321 {source="MONDO:equivalentTo"}
is_a: MONDO:0019404 {source="Orphanet:100002"} ! perineurioma
property_value: exactMatch http://identifiers.org/snomedct/768926005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197321
property_value: exactMatch Orphanet:100002

[Term]
id: MONDO:0015032
name: intraneural perineurioma
def: "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." [NCIT:P378]
subset: gard_rare {source="GARD:0010921"}
subset: ordo_disease {source="Orphanet:100003"}
synonym: "intraneural perineurioma" EXACT [DOID:4696, NCIT:C6911]
synonym: "intraneural perineurioma (WHO grade I)" EXACT [NCIT:C6911]
xref: DOID:4696 {source="MONDO:equivalentTo"}
xref: GARD:0010921 {source="MONDO:equivalentTo"}
xref: NCIT:C6911 {source="DOID:4696", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:100003 {source="MONDO:equivalentTo"}
xref: SCTID:768934004 {source="MONDO:equivalentTo"}
xref: UMLS:C1370658 {source="ORDO:100003/e", source="DOID:4696", source="Orphanet:100003", source="MONDO:equivalentTo", source="NCIT:C6911"}
is_a: MONDO:0019404 {source="DOID:4696", source="NCIT:C6911", source="Orphanet:100003"} ! perineurioma
property_value: closeMatch http://identifiers.org/snomedct/128795001
property_value: exactMatch DOID:4696
property_value: exactMatch http://identifiers.org/snomedct/768934004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370658
property_value: exactMatch NCIT:C6911
property_value: exactMatch Orphanet:100003
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma xsd:anyURI {source="GARD:0010921"}

[Term]
id: MONDO:0015033
name: ABeta amyloidosis, dutch type
def: "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." [Orphanet:100006]
subset: ordo_clinical_subtype {source="Orphanet:100006"}
synonym: "ABetaE22Q amyloidosis" EXACT [Orphanet:100006]
synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [DOID:0070028]
synonym: "HCHWA, Dutch type" EXACT [Orphanet:100006]
synonym: "HCHWA-D" EXACT [Orphanet:100006]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Dutch type" EXACT [Orphanet:100006]
xref: ICD10:E85.4+ {source="ORDO:100006/attributed", source="ORDO:100006/ntbt", source="Orphanet:100006"}
xref: ICD10:I68.0* {source="ORDO:100006/attributed", source="ORDO:100006/ntbt", source="Orphanet:100006"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:100006 {source="MONDO:equivalentTo"}
xref: SCTID:56453003 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch http://identifiers.org/mesh/C537944
property_value: exactMatch http://identifiers.org/mesh/D028243
property_value: exactMatch http://identifiers.org/snomedct/56453003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931672
property_value: exactMatch Orphanet:100006

[Term]
id: MONDO:0015034
name: lissencephaly with cerebellar hypoplasia type A
def: "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." [Orphanet:100011]
subset: ordo_malformation_syndrome {source="Orphanet:100011"}
xref: ICD10:Q04.3 {source="Orphanet:100011", source="ORDO:100011/attributed", source="ORDO:100011/ntbt"}
xref: Orphanet:100011 {source="MONDO:equivalentTo"}
xref: UMLS:CN228900 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015034", source="Orphanet:100011"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228900
property_value: exactMatch Orphanet:100011

[Term]
id: MONDO:0015035
name: lissencephaly with cerebellar hypoplasia type B
def: "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." [Orphanet:100012]
subset: ordo_malformation_syndrome {source="Orphanet:100012"}
xref: ICD10:Q04.3 {source="Orphanet:100012", source="ORDO:100012/attributed", source="ORDO:100012/ntbt"}
xref: Orphanet:100012 {source="MONDO:equivalentTo"}
xref: SCTID:715819005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274993 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN228901 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015035", source="Orphanet:100012", source="linkedlifedata"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://identifiers.org/snomedct/715819005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228901
property_value: exactMatch Orphanet:100012

[Term]
id: MONDO:0015036
name: lissencephaly with cerebellar hypoplasia type C
def: "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." [Orphanet:100013]
subset: ordo_malformation_syndrome {source="Orphanet:100013"}
xref: ICD10:Q04.3 {source="Orphanet:100013", source="ORDO:100013/attributed", source="ORDO:100013/ntbt"}
xref: Orphanet:100013 {source="MONDO:equivalentTo"}
xref: SCTID:715820004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274992 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN228902 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015036", source="Orphanet:100013", source="linkedlifedata"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://identifiers.org/snomedct/715820004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228902
property_value: exactMatch Orphanet:100013

[Term]
id: MONDO:0015037
name: lissencephaly with cerebellar hypoplasia type D
def: "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." [Orphanet:100014]
subset: ordo_malformation_syndrome {source="Orphanet:100014"}
xref: ICD10:Q04.3 {source="Orphanet:100014", source="ORDO:100014/attributed", source="ORDO:100014/ntbt"}
xref: Orphanet:100014 {source="MONDO:equivalentTo"}
xref: SCTID:715821000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274991 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN228903 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015037", source="Orphanet:100014", source="linkedlifedata"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://identifiers.org/snomedct/715821000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228903
property_value: exactMatch Orphanet:100014

[Term]
id: MONDO:0015038
name: lissencephaly with cerebellar hypoplasia type E
def: "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." [Orphanet:100015]
subset: ordo_malformation_syndrome {source="Orphanet:100015"}
xref: ICD10:Q04.3 {source="Orphanet:100015", source="ORDO:100015/attributed", source="ORDO:100015/ntbt"}
xref: Orphanet:100015 {source="MONDO:equivalentTo"}
xref: UMLS:CN228904 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015038", source="Orphanet:100015"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228904
property_value: exactMatch Orphanet:100015

[Term]
id: MONDO:0015039
name: lissencephaly with cerebellar hypoplasia type F
def: "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." [Orphanet:100016]
subset: ordo_malformation_syndrome {source="Orphanet:100016"}
xref: ICD10:Q04.3 {source="ORDO:100016/attributed", source="ORDO:100016/ntbt", source="Orphanet:100016"}
xref: Orphanet:100016 {source="MONDO:equivalentTo"}
xref: SCTID:715822007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274989 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN228905 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019450 {source="MONDOLEX:0015039", source="Orphanet:100016", source="linkedlifedata"} ! lissencephaly with cerebellar hypoplasia
property_value: exactMatch http://identifiers.org/snomedct/715822007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228905
property_value: exactMatch Orphanet:100016

[Term]
id: MONDO:0015040
name: myelodysplastic syndrome with excess blasts-1
def: "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" [NCIT:C7167]
subset: ordo_clinical_subtype {source="Orphanet:100019"}
synonym: "MDS-EB-1" EXACT [NCIT:C7167]
synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [NCIT:C7167]
synonym: "RAEB-1" EXACT [NCIT:C7167, Orphanet:100019]
synonym: "RAEB-I" EXACT [NCIT:C7167]
synonym: "refractory anemia with excess blasts type 1" RELATED [Orphanet:100019]
xref: ICD10:D46.2 {source="ORDO:100019/ntbt", source="Orphanet:100019"}
xref: NCIT:C7167 {source="MONDO:equivalentTo"}
xref: Orphanet:100019 {source="MONDO:equivalentTo"}
xref: UMLS:C1318550 {source="MONDO:equivalentTo", source="Orphanet:100019", source="ORDO:100019/e"}
is_a: MONDO:0019454 {source="MONDOLEX:0015040", source="NCIT:C7167", source="Orphanet:100019"} ! myelodysplastic syndrome with excess blasts
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318550
property_value: exactMatch NCIT:C7167
property_value: exactMatch Orphanet:100019

[Term]
id: MONDO:0015041
name: myelodysplastic syndrome with excess blasts-2
def: "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" [NCIT:C7168]
subset: ordo_clinical_subtype {source="Orphanet:100020"}
synonym: "MDS-EB-2" EXACT [NCIT:C7168]
synonym: "myelodysplastic syndrome with Excess blasts-2" EXACT [NCIT:C7168]
synonym: "RAEB-2" EXACT [NCIT:C7168, Orphanet:100020]
synonym: "RAEB-II" EXACT [NCIT:C7168]
synonym: "refractory anemia with excess blasts type 2" RELATED [Orphanet:100020]
xref: ICD10:D46.2 {source="ORDO:100020/ntbt", source="Orphanet:100020"}
xref: NCIT:C7168 {source="MONDO:equivalentTo"}
xref: Orphanet:100020 {source="MONDO:equivalentTo"}
xref: UMLS:C1318551 {source="MONDO:equivalentTo", source="Orphanet:100020", source="ORDO:100020/e"}
is_a: MONDO:0019454 {source="MONDOLEX:0015041", source="NCIT:C7168", source="Orphanet:100020"} ! myelodysplastic syndrome with excess blasts
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318551
property_value: exactMatch NCIT:C7168
property_value: exactMatch Orphanet:100020

[Term]
id: MONDO:0015042
name: primary plasmacytoma of the bone
subset: ordo_clinical_subtype {source="Orphanet:100021"}
xref: ICD10:C90.3 {source="Orphanet:100021", source="ORDO:100021/e"}
xref: Orphanet:100021 {source="MONDO:equivalentTo"}
xref: UMLS:CN197327 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005615 {source="Orphanet:100021"} ! plasmacytoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197327
property_value: exactMatch Orphanet:100021

[Term]
id: MONDO:0015043
name: extramedullary soft tissue plasmacytoma
subset: ordo_clinical_subtype {source="Orphanet:100022"}
xref: ICD10:C90.2 {source="Orphanet:100022", source="ORDO:100022/ntbt", source="MONDO:directSiblingOf"}
xref: Orphanet:100022 {source="MONDO:equivalentTo"}
xref: UMLS:CN197328 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005615 {source="Orphanet:100022"} ! plasmacytoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197328
property_value: exactMatch Orphanet:100022

[Term]
id: MONDO:0015044
name: mu-heavy chain disease
def: "Mu-heavy chain disease (mu-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL; see this term)." [Orphanet:100024]
subset: ordo_clinical_subtype {source="Orphanet:100024"}
synonym: "mu chain disease" EXACT [MONDO:0000658]
synonym: "mu heavy chain disease" EXACT [NCIT:C3892]
synonym: "mu-HCD" EXACT [Orphanet:100024]
xref: DOID:0060128 {source="MONDO:equivalentTo"}
xref: ICD10:C88.2 {source="MONDO:subClassOf", source="Orphanet:100024", source="ORDO:100024/ntbt"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3892 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:100024 {source="MONDO:equivalentTo"}
xref: SCTID:61493004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0019464 {source="DOID:0060128", source="NCIT:C3892", source="Orphanet:100024", source="linkedlifedata"} ! heavy chain disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242310
property_value: exactMatch DOID:0060128
property_value: exactMatch http://identifiers.org/snomedct/61493004
property_value: exactMatch NCIT:C3892
property_value: exactMatch Orphanet:100024

[Term]
id: MONDO:0015045
name: alpha-heavy chain disease
def: "Alpha-heavy chain disease (alpha-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID; see this term). The clinical presentation includes chronic diarrhea with evidence of malabsorption." [Orphanet:100025]
subset: ordo_clinical_subtype {source="Orphanet:100025"}
synonym: "alpha chain disease" EXACT [MONDO:0000656]
synonym: "Alpha heavy chain disease" EXACT [NCIT:C3132]
synonym: "Alpha-HCD" EXACT [Orphanet:100025]
synonym: "Immunoproliferative small intestinal disease" EXACT [NCIT:C3132, Orphanet:100025]
synonym: "IPSID" EXACT [NCIT:C3132, Orphanet:100025]
synonym: "Mediterranean abdominal lymphoma" EXACT [NCIT:C3132]
synonym: "Mediterranean lymphoma" EXACT [Orphanet:100025]
synonym: "Mediterraneanl lymphoma" EXACT [NCIT:C3132]
synonym: "Seligmann's disease" RELATED [DOID:0060126, https://en.wikipedia.org/wiki/Heavy_chain_disease]
xref: DOID:0060126 {source="MONDO:equivalentTo"}
xref: EFO:1001798 {source="MONDO:equivalentTo"}
xref: ICD10:C88.3 {source="Orphanet:100025", source="ORDO:100025/ntbt"}
xref: ICDO:9760/3 {source="NCIT:C3132"}
xref: ICDO:9764/3 {source="NCIT:C3132"}
xref: MESH:D007161 {source="MONDO:equivalentTo"}
xref: NCIT:C3132 {source="MONDO:equivalentTo"}
xref: Orphanet:100025 {source="MONDO:equivalentTo"}
xref: UMLS:C0021071 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C3132", source="Orphanet:100025", source="MONDO:equivalentTo"}
is_a: MONDO:0019464 {source="DOID:0060126", source="MESH:D007161", source="NCIT:C3132", source="Orphanet:100025"} ! heavy chain disease
property_value: exactMatch DOID:0060126
property_value: exactMatch http://identifiers.org/mesh/D007161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021071
property_value: exactMatch NCIT:C3132
property_value: exactMatch Orphanet:100025

[Term]
id: MONDO:0015046
name: gamma-heavy chain disease
def: "Gamma-heavy chain disease (gamma-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." [Orphanet:100026]
subset: ordo_clinical_subtype {source="Orphanet:100026"}
synonym: "Franklin disease" EXACT [NCIT:C3083, Orphanet:100026]
synonym: "Franklin's disease" EXACT [DOID:0060127, https://en.wikipedia.org/wiki/Heavy_chain_disease, NCIT:C3083]
synonym: "gamma heavy chain disease" EXACT [MONDO:0000657, NCIT:C3083]
synonym: "gamma-HCD" EXACT [Orphanet:100026]
xref: DOID:0060127 {source="MONDO:equivalentTo"}
xref: GARD:0010346 {source="MONDO:equivalentTo"}
xref: ICD10:C88.2 {source="MONDO:subClassOf", source="Orphanet:100026", source="ORDO:100026/ntbt"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3083 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:100026 {source="MONDO:equivalentTo"}
xref: SCTID:109984001 {source="MONDO:kboom-pr-1.00/0.79/8.02", source="MONDO:equivalentTo"}
is_a: MONDO:0019464 {source="DOID:0060127", source="NCIT:C3083", source="Orphanet:100026", source="linkedlifedata"} ! heavy chain disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018854
property_value: exactMatch DOID:0060127
property_value: exactMatch http://identifiers.org/snomedct/109984001
property_value: exactMatch NCIT:C3083
property_value: exactMatch Orphanet:100026

[Term]
id: MONDO:0015047
name: amelogenesis imperfecta type 1
subset: ordo_clinical_subtype {source="Orphanet:100031"}
synonym: "hypoplastic amelogenesis imperfecta" EXACT [Orphanet:100031]
xref: ICD10:K00.5 {source="ORDO:100031/attributed", source="ORDO:100031/ntbt", source="Orphanet:100031"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:100031 {source="MONDO:equivalentTo"}
xref: SCTID:109476006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
is_a: MONDO:0019507 {source="Orphanet:100031", source="linkedlifedata"} ! amelogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0399367
property_value: exactMatch http://identifiers.org/snomedct/109476006
property_value: exactMatch Orphanet:100031

[Term]
id: MONDO:0015048
name: amelogenesis imperfecta type 2
subset: clingen
subset: ordo_clinical_subtype {source="Orphanet:100033"}
synonym: "amelogenesis imperfecta hypomaturation type" RELATED [GARD:0008349]
synonym: "hypomaturation amelogenesis imperfecta" EXACT [Orphanet:100033]
xref: GARD:0008349 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="Orphanet:100033", source="ORDO:100033/attributed", source="ORDO:100033/ntbt"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536606 {source="Orphanet:100033", source="ORDO:100033/e", source="MONDO:equivalentTo"}
xref: Orphanet:100033 {source="MONDO:equivalentTo"}
xref: SCTID:109475005 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0019507 {source="MESH:C536606", source="Orphanet:100033", source="linkedlifedata"} ! amelogenesis imperfecta
property_value: exactMatch http://identifiers.org/mesh/C536606
property_value: exactMatch http://identifiers.org/snomedct/109475005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399372
property_value: exactMatch Orphanet:100033

[Term]
id: MONDO:0015049
name: solitary necrotic nodule of the liver
def: "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." [Orphanet:100035]
subset: ordo_disease {source="Orphanet:100035"}
synonym: "hepatic solitary necrotic nodule" EXACT [Orphanet:100035]
xref: ICD10:D13.4 {source="Orphanet:100035", source="ORDO:100035/ntbt"}
xref: Orphanet:100035 {source="MONDO:equivalentTo"}
xref: SCTID:447058001 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:CN197336 {source="MONDO:equivalentTo"}
is_a: MONDO:0024477 {source="Orphanet:100035"} ! liver and intrahepatic bile duct neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017632"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/447058001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197336
property_value: exactMatch Orphanet:100035

[Term]
id: MONDO:0015050
name: esophageal duplication cyst
def: "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." [Orphanet:100047]
subset: ordo_morphological_anomaly {source="Orphanet:100047"}
xref: ICD10:Q39.8 {source="Orphanet:100047", source="ORDO:100047/attributed", source="ORDO:100047/ntbt"}
xref: Orphanet:100047 {source="MONDO:equivalentTo"}
xref: SCTID:721161005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019619 {source="Orphanet:100047"} ! duplication of the esophagus
property_value: exactMatch http://identifiers.org/snomedct/721161005
property_value: exactMatch Orphanet:100047

[Term]
id: MONDO:0015051
name: tubular duplication of the esophagus
def: "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." [Orphanet:100048]
subset: ordo_morphological_anomaly {source="Orphanet:100048"}
xref: ICD10:Q39.8 {source="Orphanet:100048", source="ORDO:100048/attributed", source="ORDO:100048/ntbt"}
xref: Orphanet:100048 {source="MONDO:equivalentTo"}
is_a: MONDO:0019619 {source="Orphanet:100048"} ! duplication of the esophagus
property_value: exactMatch Orphanet:100048

[Term]
id: MONDO:0015052
name: primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
def: "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." [Orphanet:100049]
subset: ordo_group_of_disorders {source="Orphanet:100049"}
synonym: "primary ILD specific to childhood due to pulmonary surfactant protein anomalies" EXACT [Orphanet:100049]
xref: Orphanet:100049 {source="MONDO:equivalentTo"}
xref: UMLS:CN197343 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017016 {source="Orphanet:100049"} ! primary interstitial lung disease specific to childhood due to alveolar structure disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197343
property_value: exactMatch Orphanet:100049

[Term]
id: MONDO:0015053
name: hereditary angioedema type 1
def: "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100050]
subset: ordo_etiological_subtype {source="Orphanet:100050"}
synonym: "HAE 1" EXACT [Orphanet:100050]
synonym: "HAE-I" EXACT [Orphanet:100050]
synonym: "hereditary angioneurotic edema type 1" EXACT [Orphanet:100050]
xref: ICD10:D84.1 {source="ORDO:100050/attributed", source="ORDO:100050/ntbt", source="Orphanet:100050"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:100050 {source="MONDO:equivalentTo"}
xref: SCTID:234619000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
is_a: MONDO:0033946 {source="Orphanet:100050"} ! hereditary angioedema with c1Inh deficiency
property_value: exactMatch http://identifiers.org/mesh/C538577
property_value: exactMatch http://identifiers.org/snomedct/234619000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717906
property_value: exactMatch Orphanet:100050

[Term]
id: MONDO:0015054
name: hereditary angioedema type 2
def: "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100051]
subset: ordo_etiological_subtype {source="Orphanet:100051"}
synonym: "HAE 2" EXACT [Orphanet:100051]
synonym: "HAE-II" EXACT [Orphanet:100051]
synonym: "hereditary angioneurotic edema type 2" EXACT [Orphanet:100051]
xref: ICD10:D84.1 {source="Orphanet:100051", source="ORDO:100051/attributed", source="ORDO:100051/ntbt"}
xref: Orphanet:100051 {source="MONDO:equivalentTo"}
xref: UMLS:C1862892 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:100051", source="ORDO:100051/e"}
is_a: MONDO:0033946 {source="Orphanet:100051"} ! hereditary angioedema with c1Inh deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862892
property_value: exactMatch Orphanet:100051

[Term]
id: MONDO:0015055
name: acquired angioedema type 2
def: "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100055]
subset: ordo_clinical_subtype {source="Orphanet:100055"}
synonym: "AAE 2" EXACT [Orphanet:100055]
synonym: "AAE II" EXACT [Orphanet:100055]
synonym: "acquired angioneurotic edema type 2" EXACT [Orphanet:100055]
xref: ICD10:T78.3 {source="Orphanet:100055", source="ORDO:100055/ntbt"}
xref: Orphanet:100055 {source="MONDO:equivalentTo"}
xref: UMLS:CN197347 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019624 {source="MONDOLEX:0015055", source="Orphanet:100055"} ! acquired angioedema
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197347
property_value: exactMatch Orphanet:100055

[Term]
id: MONDO:0015056
name: acquired angioedema type 1
def: "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100056]
subset: ordo_clinical_subtype {source="Orphanet:100056"}
synonym: "acquired angioneurotic edema type 1" EXACT [Orphanet:100056]
xref: ICD10:T78.3 {source="Orphanet:100056", source="ORDO:100056/ntbt"}
xref: Orphanet:100056 {source="MONDO:equivalentTo"}
xref: UMLS:CN197348 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019624 {source="MONDOLEX:0015056", source="Orphanet:100056"} ! acquired angioedema
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197348
property_value: exactMatch Orphanet:100056

[Term]
id: MONDO:0015057
name: renin-angiotensin-aldosterone system-blocker-induced angioedema
def: "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100057]
comment: Editor note: consider separate class for OMIM for predisposition
subset: ordo_clinical_subtype {source="Orphanet:100057"}
synonym: "AEACEI" RELATED [OMIM:300909]
synonym: "angioedema induced by ACE inhibitors, susceptibility to" RELATED [OMIM:300909]
synonym: "angioedema induced by ACE inhibitors, susceptibility to; AEACEI" RELATED [OMIM:300909]
synonym: "Raas-blocker-induced angioedema" EXACT [Orphanet:100057]
synonym: "Raas-blocker-induced angioneurotic edema" EXACT [Orphanet:100057]
synonym: "RAE" EXACT [Orphanet:100057]
synonym: "reactive angioendotheliomatosis" RELATED [GARD:0009445]
synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" EXACT [Orphanet:100057]
synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [OMIM:300909]
xref: GARD:0009445 {source="MONDO:equivalentTo"}
xref: ICD10:T78.3 {source="Orphanet:100057", source="ORDO:100057/ntbt"}
xref: MESH:C535293 {source="MONDO:equivalentTo"}
xref: OMIM:300909 {source="Orphanet:100057", source="MONDO:equivalentTo", source="ORDO:100057/btnt"}
xref: Orphanet:100057 {source="MONDO:equivalentTo"}
is_a: MONDO:0019624 {source="Orphanet:100057"} ! acquired angioedema
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3806711
property_value: exactMatch http://identifiers.org/mesh/C535293
property_value: exactMatch http://identifiers.org/omim/300909
property_value: exactMatch Orphanet:100057

[Term]
id: MONDO:0015058
name: obsolete Waterhouse-Friderichsen syndrome
is_obsolete: true
replaced_by: MONDO:0006015

[Term]
id: MONDO:0015059
name: progressive non-fluent aphasia
def: "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." [Orphanet:100070]
subset: gard_rare {source="GARD:0010793"}
subset: ordo_disease {source="Orphanet:100070"}
synonym: "Agramatic variant of PPA" EXACT [Orphanet:100070]
synonym: "Agramatic variant of primary progressive aphasia" EXACT [Orphanet:100070]
synonym: "non-fluent primary progressive aphasia" RELATED [GARD:0010793]
synonym: "non-fluent variant PPA" EXACT [Orphanet:100070]
synonym: "Primary Progressive Nonfluent aphasia" EXACT [NCIT:C85025]
xref: GARD:0010793 {source="MONDO:equivalentTo"}
xref: ICD10:G31.0 {source="ORDO:100070/attributed", source="ORDO:100070/ntbt", source="Orphanet:100070"}
xref: MedDRA:10029542 {source="ORDO:100070/e", source="Orphanet:100070"}
xref: MESH:D057178 {source="MONDO:equivalentTo", source="ORDO:100070/e", source="Orphanet:100070"}
xref: NCIT:C85025 {source="MONDO:equivalentTo"}
xref: Orphanet:100070 {source="MONDO:equivalentTo"}
xref: SCTID:716281000 {source="MONDO:equivalentTo"}
is_a: MONDO:0011842 ! Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
is_a: MONDO:0017643 {source="Orphanet:100070"} ! frontotemporal neurodegeneration with movement disorder
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/meddra/10029542
property_value: exactMatch http://identifiers.org/mesh/D057178
property_value: exactMatch http://identifiers.org/snomedct/716281000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751706
property_value: exactMatch NCIT:C85025
property_value: exactMatch Orphanet:100070
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia xsd:anyURI {source="GARD:0010793"}

[Term]
id: MONDO:0015060
name: mosaic trisomy 3
def: "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." [Orphanet:100071]
subset: ordo_malformation_syndrome {source="Orphanet:100071"}
synonym: "Mosaic trisomy chromosome 3" EXACT [Orphanet:100071]
synonym: "Mosaic trisomy type 3" EXACT [MONDORULE:1, Orphanet:100071]
synonym: "trisomy 3 mosaicism" EXACT [Orphanet:100071]
xref: GARD:0005342 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.1 {source="ORDO:100071/attributed", source="ORDO:100071/ntbt", source="Orphanet:100071"}
xref: Orphanet:100071 {source="MONDO:equivalentTo"}
xref: SCTID:764627005 {source="MONDO:equivalentTo"}
xref: UMLS:CN073992 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020051 {source="Orphanet:100071"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/snomedct/764627005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073992
property_value: exactMatch Orphanet:100071

[Term]
id: MONDO:0015061
name: neurogenic thoracic outlet syndrome
def: "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." [Orphanet:100073]
subset: ordo_clinical_subtype {source="Orphanet:100073"}
synonym: "neurogenic cervical rib syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic costoclavicular syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic thoracic outlet compression syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic TOS" EXACT [Orphanet:100073]
synonym: "NTOS" EXACT [Orphanet:100073]
xref: ICD10:G54.0 {source="Orphanet:100073", source="ORDO:100073/ntbt"}
xref: Orphanet:100073 {source="MONDO:equivalentTo"}
xref: SCTID:2040007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751549 {source="MONDO:equivalentTo", source="Orphanet:100073"}
is_a: MONDO:0005979 {source="MONDOLEX:0015061", source="Orphanet:100073", source="linkedlifedata"} ! thoracic outlet syndrome
property_value: exactMatch http://identifiers.org/snomedct/2040007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751549
property_value: exactMatch Orphanet:100073

[Term]
id: MONDO:0015062
name: gastric neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." [NCIT:C95871]
subset: ordo_disease {source="Orphanet:100075"}
synonym: "gastric NET" EXACT [NCIT:C95871]
synonym: "gastric NET G1/2" EXACT [MONDO:cjm]
synonym: "gastric neuroendocrine tumor" EXACT [NCIT:C95871]
synonym: "gastric well differentiated endocrine tumor" EXACT [NCIT:C95871]
synonym: "gastric well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95871]
synonym: "GNET" EXACT [Orphanet:100075]
synonym: "well-differentiated neuroendocrine tumors of the stomach" RELATED [ONCOTREE:SWDNET]
xref: NCIT:C95871 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SWDNET {source="MONDO:equivalentTo"}
xref: UMLS:C3272399 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C95871"}
xref: UMLS:CN197355 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002995 ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0003111 {source="NCIT:C95871"} ! gastric neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197355
property_value: exactMatch NCIT:C95871

[Term]
id: MONDO:0015063
name: duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum." [NCIT:C135080]
subset: ordo_group_of_disorders {source="Orphanet:100076"}
synonym: "duodenal neuroendocrine tumor" EXACT [NCIT:C135080]
xref: NCIT:C135080 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:100076 {source="MONDO:equivalentTo"}
xref: UMLS:CN197356 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135080"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0024500 ! duodenal neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197356
property_value: exactMatch NCIT:C135080
property_value: exactMatch Orphanet:100076

[Term]
id: MONDO:0015064
name: jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum." [NCIT:C135090]
comment: Editor note: TODO apply G1/G2 pattern
subset: ordo_disease {source="Orphanet:100077"}
synonym: "jejunal neuroendocrine neoplasm" EXACT [Orphanet:100077]
synonym: "jejunal neuroendocrine tumor" RELATED [Orphanet:100077]
xref: NCIT:C135090 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:100077 {source="MONDO:equivalentTo"}
xref: UMLS:CN197357 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002564 ! jejunal neoplasm
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135090"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197357
property_value: exactMatch NCIT:C135090
property_value: exactMatch Orphanet:100077

[Term]
id: MONDO:0015065
name: ileal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." [NCIT:C135092]
comment: Editor note: TODO apply G1/G2 pattern
subset: ordo_disease {source="Orphanet:100078"}
synonym: "ileal neuroendocrine neoplasm" EXACT [Orphanet:100078]
synonym: "ileal neuroendocrine tumor" RELATED [Orphanet:100078]
xref: NCIT:C135092 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:100078 {source="MONDO:equivalentTo"}
xref: UMLS:CN197358 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135092"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0006801 {source="MONDO:Redundant", source="NCIT:C135092"} ! ileal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197358
property_value: exactMatch NCIT:C135092
property_value: exactMatch Orphanet:100078

[Term]
id: MONDO:0015066
name: neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix." [NCIT:C96422]
subset: ordo_disease {source="Orphanet:100079"}
synonym: "appendiceal NEN" EXACT [Orphanet:100079]
synonym: "appendiceal neuroendocrine neoplasm" EXACT [Orphanet:100079]
synonym: "appendiceal neuroendocrine tumor" EXACT [Orphanet:100079]
synonym: "appendix NET" EXACT [NCIT:C96422]
synonym: "appendix neuroendocrine tumor" EXACT [NCIT:C96422]
synonym: "appendix well differentiated endocrine tumor" EXACT [NCIT:C96422]
synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96422]
synonym: "NEN of appendix" EXACT [Orphanet:100079]
synonym: "neuroendocrine neoplasm of appendix" RELATED [Orphanet:100079]
synonym: "well-differentiated neuroendocrine tumor of the appendix" RELATED [ONCOTREE:AWDNET]
xref: ICD10:C18.1 {source="Orphanet:100079", source="ORDO:100079/ntbt"}
xref: ICD10:D37.3 {source="Orphanet:100079", source="ORDO:100079/ntbt"}
xref: NCIT:C96422 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:AWDNET {source="MONDO:equivalentTo"}
xref: Orphanet:100079 {source="MONDO:equivalentTo"}
xref: SCTID:725167001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015067 ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
is_a: MONDO:0018511 {source="MONDO:Redundant", source="Orphanet:100079"} ! epithelial tumor of the appendix
is_a: MONDO:0024501 {source="MONDO:Redundant", source="NCIT:C96422"} ! appendix neuroendocrine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3272767
property_value: exactMatch http://identifiers.org/snomedct/725167001
property_value: exactMatch NCIT:C96422
property_value: exactMatch Orphanet:100079

[Term]
id: MONDO:0015067
name: neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." [NCIT:C135212]
subset: ordo_disease {source="Orphanet:100080"}
synonym: "carcinoid tumor of colon" EXACT [MONDO:cjm]
synonym: "colon neuroendocrine tumor" EXACT [NCIT:C135212]
synonym: "colonic NET" EXACT [Orphanet:100080]
synonym: "NET of the colon" EXACT [Orphanet:100080]
synonym: "neuroendocrine neoplasm of the colon" EXACT [Orphanet:100080]
xref: NCIT:C135212 {source="MONDO:equivalentTo"}
is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0002882 {source="MONDO:Redundant", source="MONDOLEX:0015067", source="NCIT:C135212"} ! colon neuroendocrine neoplasm
is_a: MONDO:0024479 {source="Orphanet:100080"} ! epithelial tumor of colon
relationship: has_modifier MONDO:0021136 {source="MONDO:0018512"} ! rare
property_value: closeMatch NCIT:CN197360
property_value: exactMatch NCIT:C135212

[Term]
id: MONDO:0015068
name: neuroendocrine tumor of rectum, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." [NCIT:C135213]
subset: ordo_disease {source="Orphanet:100081"}
synonym: "neuroendocrine tumor of the rectum" RELATED [Orphanet:100081]
synonym: "rectal neuroendocrine tumor" EXACT [NCIT:C135213, Orphanet:100081]
xref: NCIT:C135213 {source="MONDO:equivalentTo"}
xref: UMLS:CN197361 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0003646 {source="MONDO:Redundant", source="NCIT:C135213"} ! rectum neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197361
property_value: exactMatch NCIT:C135213

[Term]
id: MONDO:0015069
name: neuroendocrine tumor of the anal canal
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal." [NCIT:C96540]
comment: Editor note: TODO apply G1/G2 pattern
subset: ordo_disease {source="Orphanet:100082"}
synonym: "anal canal NET" EXACT [NCIT:C96540]
synonym: "anal canal neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "anal canal neuroendocrine tumor" EXACT [NCIT:C96540]
synonym: "anal canal well differentiated tumor" EXACT [NCIT:C96540]
synonym: "anal canal well differentiated tumor/carcinoma" EXACT [NCIT:C96540]
synonym: "anal NET" EXACT [NCIT:C96540]
synonym: "anal Neuroendocrine tumor" EXACT [NCIT:C96540]
synonym: "NET of anal canal" EXACT [Orphanet:100082]
synonym: "NET of the anal canal" EXACT [Orphanet:100082]
synonym: "neuroendocrine neoplasm of the anal canal" EXACT [Orphanet:100082]
synonym: "neuroendocrine tumor of anal canal" RELATED [Orphanet:100082]
xref: NCIT:C96540 {source="MONDO:equivalentTo"}
xref: Orphanet:100082 {source="MONDO:equivalentTo"}
xref: UMLS:CN197362 {source="MONDO:equivalentTo"}
is_a: MONDO:0003504 ! anal canal neuroendocrine neoplasm
is_a: MONDO:0015068 ! neuroendocrine tumor of rectum, well differentiated, low or intermediate grade
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3272849
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197362
property_value: exactMatch NCIT:C96540
property_value: exactMatch Orphanet:100082

[Term]
id: MONDO:0015070
name: laryngeal neuroendocrine neoplasm
def: "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." [NCIT:C6023]
subset: ordo_disease {source="Orphanet:100083"}
synonym: "laryngeal neuroendocrine neoplasm" EXACT [NCIT:C6023]
synonym: "laryngeal neuroendocrine tumor" RELATED [DOID:5457]
synonym: "larynx NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C6023]
synonym: "larynx neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of larynx" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C6023]
synonym: "neuroendocrine neoplasm of the larynx" EXACT [NCIT:C6023]
synonym: "neuroendocrine tumor of larynx" EXACT [DOID:5457, NCIT:C6023]
xref: DOID:5457 {source="MONDO:equivalentTo"}
xref: NCIT:C6023 {source="DOID:5457", source="MONDO:equivalentTo"}
xref: Orphanet:100083 {source="MONDO:equivalentTo"}
xref: SCTID:707625001 {source="DOID:5457", source="MONDO:equivalentTo"}
xref: UMLS:C1334374 {source="NCIT:C6023", source="DOID:5457", source="MONDO:equivalentTo"}
is_a: MONDO:0015081 {source="Orphanet:100083"} ! neuroendocrine tumor with other location
is_a: MONDO:0020035 {source="Orphanet:100083"} ! rare otorhinolaryngologic tumor
is_a: MONDO:0021071 {source="MONDO:Redundant", source="MONDOLEX:0015070", source="NCIT:C6023", source="linkedlifedata"} ! laryngeal neoplasm
property_value: exactMatch DOID:5457
property_value: exactMatch http://identifiers.org/snomedct/707625001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334374
property_value: exactMatch NCIT:C6023
property_value: exactMatch Orphanet:100083

[Term]
id: MONDO:0015071
name: middle ear neuroendocrine tumor
def: "A neuroendocrine neoplasm that involves the middle ear." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:100084"}
synonym: "middle ear NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "middle ear neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "middle ear neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of middle ear" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine tumor of middle ear" EXACT []
xref: Orphanet:100084 {source="MONDO:equivalentTo"}
xref: SCTID:717918002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.55"}
xref: UMLS:C4305468 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN197364 {source="MEDGEN:kboom-pr98-c99", source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0015081 {source="Orphanet:100084"} ! neuroendocrine tumor with other location
is_a: MONDO:0020035 {source="Orphanet:100084"} ! rare otorhinolaryngologic tumor
is_a: MONDO:0021366 ! neoplasm of middle ear
property_value: exactMatch http://identifiers.org/snomedct/717918002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197364
property_value: exactMatch Orphanet:100084

[Term]
id: MONDO:0015072
name: liver neuroendocrine carcinoma
def: "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." [NCIT:C96787]
subset: ordo_disease {source="Orphanet:100085"}
synonym: "hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787]
synonym: "HNEC" EXACT [NCIT:C96787]
synonym: "liver neuroendocrine cancer" EXACT [NCIT:C96787]
synonym: "liver neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C96787]
synonym: "neuroendocrine carcinoma of liver" EXACT [MONDO:design_pattern]
synonym: "PHNEC" EXACT [MONDO:cjm]
synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787]
synonym: "primary liver neuroendocrine carcinoma" EXACT [NCIT:C96787]
xref: ICD10:C22.7 {source="ORDO:100085/ntbt", source="Orphanet:100085"}
xref: NCIT:C96787 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo"}
xref: Orphanet:100085 {source="MONDO:equivalentTo"}
xref: SCTID:716652006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3273031 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96787"}
xref: UMLS:CN197365 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0015081 {source="Orphanet:100085"} ! neuroendocrine tumor with other location
is_a: MONDO:0018531 ! carcinoma of liver and intrahepatic biliary tract
property_value: exactMatch http://identifiers.org/snomedct/716652006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197365
property_value: exactMatch NCIT:C96787
property_value: exactMatch Orphanet:100085

[Term]
id: MONDO:0015073
name: gallbladder neuroendocrine tumor, grade 1/2
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." [NCIT:C96918]
subset: ordo_disease {source="Orphanet:100086"}
synonym: "gallbladder NET" EXACT [NCIT:C96918]
synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918]
synonym: "gallbladder well differentiated endocrine tumor" EXACT [NCIT:C96918]
synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96918]
xref: ICD10:C23 {source="ORDO:100086/ntbt", source="Orphanet:100086"}
xref: NCIT:C96918 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:100086 {source="MONDO:equivalentTo"}
xref: UMLS:C3273116 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96918"}
xref: UMLS:CN197366 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000386 {source="MONDO:Entailed", source="NCIT:C96918"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0015081 {source="Orphanet:100086"} ! neuroendocrine tumor with other location
is_a: MONDO:0017631 {source="Orphanet:100086"} ! rare tumor of gallbladder and extrahepatic biliary tract
is_a: MONDO:0024502 {source="MONDO:Redundant", source="NCIT:C96918"} ! gallbladder neuroendocrine neoplasm
intersection_of: MONDO:0024502 ! gallbladder neuroendocrine neoplasm
intersection_of: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273116
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197366
property_value: exactMatch NCIT:C96918
property_value: exactMatch Orphanet:100086

[Term]
id: MONDO:0015074
name: thyroid tumor
alt_id: MONDO:0021217
def: "A benign or malignant neoplasm affecting the thyroid gland." [NCIT:P378]
comment: Editor note: TODO
subset: ordo_group_of_disorders {source="Orphanet:100087"}
synonym: "neoplasm of the thyroid" EXACT [NCIT:C3414]
synonym: "neoplasm of the thyroid gland" EXACT [NCIT:C3414]
synonym: "neoplasm of thyroid" EXACT [NCIT:C3414]
synonym: "neoplasm of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
synonym: "THYROID" RELATED [ONCOTREE:THYROID]
synonym: "thyroid gland neoplasm" EXACT [NCIT:C3414]
synonym: "thyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "thyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
synonym: "thyroid neoplasm" EXACT [NCIT:C3414]
synonym: "thyroid neoplasms" EXACT [NCIT:C3414]
synonym: "thyroid tumor" EXACT [NCIT:C3414]
synonym: "tumor of the thyroid" EXACT [NCIT:C3414]
synonym: "tumor of the thyroid gland" EXACT [NCIT:C3414]
synonym: "tumor of thyroid" EXACT [NCIT:C3414]
synonym: "tumor of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
xref: EFO:0003841 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3414 {source="MONDO:equivalentTo", source="kboom:pr0.76-conf6.36"}
xref: ONCOTREE:THYROID {source="MONDO:equivalentTo"}
xref: Orphanet:100087 {source="MONDO:equivalentTo"}
xref: SCTID:127018007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.46/0.62"}
is_a: MONDO:0002082 ! endocrine gland neoplasm
is_a: MONDO:0003240 {source="MONDO:Redundant", source="NCIT:C3414", source="linkedlifedata"} ! thyroid gland disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040132
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040136
property_value: closeMatch NCIT:C12400
property_value: exactMatch http://identifiers.org/snomedct/127018007
property_value: exactMatch NCIT:C3414
property_value: exactMatch Orphanet:100087

[Term]
id: MONDO:0015075
name: thyroid gland carcinoma
def: "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." [NCIT:C4815]
subset: ordo_group_of_disorders {source="Orphanet:100088"}
synonym: "cancer of the thyroid" EXACT [NCIT:C4815]
synonym: "cancer of thyroid" EXACT [NCIT:C4815]
synonym: "carcinoma of the thyroid" EXACT [NCIT:C4815]
synonym: "carcinoma of the thyroid gland" EXACT [NCIT:C4815]
synonym: "carcinoma of thyroid" EXACT [NCIT:C4815]
synonym: "carcinoma of thyroid gland" EXACT [MONDO:patterns/carcinoma, NCIT:C4815]
synonym: "head and neck cancer, thyroid" EXACT [DOID:3963, NCIT:C4815]
synonym: "thyroid cancer" EXACT [NCIT:C4815]
synonym: "thyroid cancer, NOS" RELATED EXCLUDE [NCIT:C4815]
synonym: "thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4815]
synonym: "thyroid gland cancer" EXACT [NCIT:C4815]
synonym: "thyroid gland carcinoma" EXACT [MONDO:0006461, MONDO:patterns/location, NCIT:C4815]
xref: DOID:3963 {source="MONDO:equivalentTo"}
xref: EFO:1000586 {source="MONDO:equivalentTo"}
xref: HP:0002890 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10007476 {source="Orphanet:100088", source="ORDO:100088/e"}
xref: NCIT:C4815 {source="EFO:1000586", source="MONDO:equivalentTo", source="DOID:3963"}
xref: Orphanet:100088 {source="MONDO:equivalentTo"}
xref: SCTID:448216007 {source="MONDO:kboom-pr-0.76/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0549473 {source="Orphanet:100088", source="NCIT:C4815", source="ORDO:100088/e", source="MONDO:equivalentTo", source="DOID:3963"}
is_a: MONDO:0002108 {source="DOID:3963", source="MONDO:Redundant", source="MONDOLEX:0015075", source="NCIT:C4815", source="linkedlifedata"} ! thyroid cancer
is_a: MONDO:0004993 {source="DOID:3963", source="EFO:1000586", source="MONDO:Redundant", source="MONDOLEX:0015075", source="NCIT:C4815/inferred", source="linkedlifedata"} ! carcinoma
property_value: closeMatch http://identifiers.org/mesh/D013964
property_value: exactMatch DOID:3963
property_value: exactMatch http://identifiers.org/meddra/10007476
property_value: exactMatch http://identifiers.org/snomedct/448216007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549473
property_value: exactMatch NCIT:C4815
property_value: exactMatch Orphanet:100088

[Term]
id: MONDO:0015076
name: obsolete rare parathyroid tumor
def: "Any of the forms of tumor of parathyroid gland that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:100090"}
synonym: "rare tumor of parathyroid gland" EXACT [MONDO:patterns/rare]
xref: Orphanet:100090 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:100090
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021360
consider: ICD10:C75.0 {source="ORDO:100090/btnt", source="Orphanet:100090"}
consider: ICD10:D35.1 {source="MONDO:relatedTo", source="ORDO:100090/btnt", source="Orphanet:100090"}
consider: ICD10:D44.2 {source="ORDO:100090/btnt", source="Orphanet:100090"}
consider: UMLS:C0030521 {source="Orphanet:100090"}

[Term]
id: MONDO:0015077
name: adrenal/paraganglial tumor
comment: Editor note: consider merging
subset: ordo_group_of_disorders {source="Orphanet:100091"}
xref: Orphanet:100091 {source="MONDO:equivalentTo"}
xref: UMLS:CN197370 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021227 ! adrenal gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197370
property_value: exactMatch Orphanet:100091

[Term]
id: MONDO:0015078
name: obsolete gastroenteropancreatic neuroendocrine neoplasm
is_obsolete: true
replaced_by: MONDO:0024503

[Term]
id: MONDO:0015079
name: multiple polyglandular tumor
comment: Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad
subset: ordo_group_of_disorders {source="Orphanet:100094"}
xref: ICD10:D44.8 {source="MONDO:equivalentTo", source="ORDO:100094/e", source="ORDO:100094/specific", source="Orphanet:100094"}
xref: Orphanet:100094 {source="MONDO:equivalentTo"}
xref: UMLS:CN197373 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015126 {source="Orphanet:100094"} ! polyendocrinopathy
relationship: disease_has_feature MONDO:0002082 {source="Orphanet:100094"} ! endocrine gland neoplasm
relationship: excluded_subClassOf MONDO:0025511 {source="Orphanet:100094"} ! inherited neuroendocrine tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197373
property_value: exactMatch Orphanet:100094

[Term]
id: MONDO:0015080
name: obsolete thymic tumor
is_obsolete: true
replaced_by: MONDO:0005197

[Term]
id: MONDO:0015081
name: neuroendocrine tumor with other location
comment: Editor note: consider obsoleting
subset: ordo_group_of_disorders {source="Orphanet:100101"}
xref: Orphanet:100101 {source="MONDO:equivalentTo"}
xref: UMLS:CN197376 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019496 {source="Orphanet:100101"} ! neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197376
property_value: exactMatch Orphanet:100101

[Term]
id: MONDO:0015082
name: alopecia antibody deficiency
subset: ordo_disease {source="Orphanet:1006"}
synonym: "IPP-Gelfand syndrome" EXACT [Orphanet:1006]
xref: Orphanet:1006 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:1006"} ! alopecia
property_value: exactMatch Orphanet:1006

[Term]
id: MONDO:0015083
name: nuclear oculomotor paralysis
comment: Editor note: see notes for supranuclear
subset: ordo_group_of_disorders {source="Orphanet:100932"}
xref: Orphanet:100932 {source="MONDO:equivalentTo"}
is_a: MONDO:0001309 {source="Orphanet:100932"} ! oculomotor nerve paralysis
property_value: exactMatch Orphanet:100932

[Term]
id: MONDO:0015084
name: FRAXF syndrome
def: "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." [Orphanet:100974]
subset: ordo_disease {source="Orphanet:100974"}
xref: Orphanet:100974 {source="MONDO:equivalentTo"}
xref: SCTID:716708005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4274329 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN197382 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0015084"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:cjm", source="Orphanet:100974", source="linkedlifedata"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/snomedct/716708005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274329
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197382
property_value: exactMatch Orphanet:100974

[Term]
id: MONDO:0015085
name: bathing suit ichthyosis
def: "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." [Orphanet:100976]
subset: ordo_disease {source="Orphanet:100976"}
synonym: "BSI" EXACT [Orphanet:100976]
xref: ICD10:Q80.2 {source="ORDO:100976/attributed", source="ORDO:100976/ntbt", source="Orphanet:100976"}
xref: Orphanet:100976 {source="MONDO:equivalentTo"}
xref: SCTID:725588002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511230 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017265 {source="Orphanet:100976"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch http://identifiers.org/snomedct/725588002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511230
property_value: exactMatch Orphanet:100976

[Term]
id: MONDO:0015086
name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:100978"}
synonym: "Benallegue Lacete syndrome" RELATED [GARD:0000853]
synonym: "Benallegue-Lacete syndrome" EXACT [Orphanet:100978]
synonym: "cloverleaf skull and asphyxiating thoracic dysplasia" RELATED [GARD:0000853]
xref: GARD:0000853 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:100978/attributed", source="ORDO:100978/ntbt", source="Orphanet:100978"}
xref: Orphanet:100978 {source="GARD:0000853", source="MONDO:equivalentTo"}
xref: UMLS:CN197384 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015338 {source="Orphanet:100978"} ! syndromic craniosynostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197384
property_value: exactMatch Orphanet:100978
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome xsd:anyURI {source="GARD:0000853"}

[Term]
id: MONDO:0015087
name: autosomal dominant complex spastic paraplegia
def: "Autosomal dominant form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:100979"}
synonym: "autosomal dominant complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant complex HSP" EXACT [Orphanet:100979]
synonym: "autosomal dominant complex SPG" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated HSP" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated spastic paraplegia" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated SPG" EXACT [Orphanet:100979]
synonym: "complex hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:100979/attributed", source="ORDO:100979/ntbt", source="Orphanet:100979"}
xref: Orphanet:100979 {source="MONDO:equivalentTo"}
xref: UMLS:CN226593 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015150 {source="MONDO:Redundant", source="MONDOLEX:0015087", source="Orphanet:100979"} ! complex hereditary spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226593
property_value: exactMatch Orphanet:100979

[Term]
id: MONDO:0015088
name: autosomal dominant pure spastic paraplegia
def: "Autosomal dominant form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:100980"}
synonym: "autosomal dominant pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant pure HSP" EXACT [Orphanet:100980]
synonym: "autosomal dominant pure SPG" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated SPG" EXACT [Orphanet:100980]
synonym: "pure hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:100980", source="ORDO:100980/attributed", source="ORDO:100980/ntbt"}
xref: Orphanet:100980 {source="MONDO:equivalentTo"}
xref: UMLS:CN226594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015149 {source="MONDO:Redundant", source="MONDOLEX:0015088", source="Orphanet:100980"} ! pure hereditary spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226594
property_value: exactMatch Orphanet:100980

[Term]
id: MONDO:0015089
name: autosomal recessive complex spastic paraplegia
def: "Autosomal recessive form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:100981"}
synonym: "autosomal recessive complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive complex HSP" EXACT [Orphanet:100981]
synonym: "autosomal recessive complex SPG" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated spastic paraplegia" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated SPG" EXACT [Orphanet:100981]
synonym: "complex hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:100981", source="ORDO:100981/attributed", source="ORDO:100981/ntbt"}
xref: Orphanet:100981 {source="MONDO:equivalentTo"}
xref: UMLS:CN228909 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015150 {source="MONDO:Redundant", source="MONDOLEX:0015089", source="Orphanet:100981"} ! complex hereditary spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228909
property_value: exactMatch Orphanet:100981

[Term]
id: MONDO:0015090
name: autosomal recessive pure spastic paraplegia
def: "Autosomal recessive form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:100982"}
synonym: "autosomal recessive pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive pure HSP" EXACT [Orphanet:100982]
synonym: "autosomal recessive pure SPG" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated SPG" EXACT [Orphanet:100982]
synonym: "pure hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:100982", source="ORDO:100982/attributed", source="ORDO:100982/ntbt"}
xref: Orphanet:100982 {source="MONDO:equivalentTo"}
xref: UMLS:CN228910 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015149 {source="MONDO:Redundant", source="MONDOLEX:0015090", source="Orphanet:100982"} ! pure hereditary spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228910
property_value: exactMatch Orphanet:100982

[Term]
id: MONDO:0015091
name: autosomal dominant spastic paraplegia type 9
def: "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:100990"}
synonym: "ALDH18A1 autosomal dominant complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraparesis" RELATED [GARD:0009583]
synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" RELATED [GARD:0009583]
synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" RELATED [GARD:0009583]
synonym: "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [Orphanet:100990]
synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [Orphanet:100990]
synonym: "spastic paraplegia 9" RELATED [GARD:0009583]
synonym: "SPG9" EXACT [Orphanet:100990]
xref: GARD:0009583 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:100990", source="ORDO:100990/attributed", source="ORDO:100990/ntbt"}
xref: Orphanet:100990 {source="MONDO:equivalentTo"}
is_a: MONDO:0015087 {source="MONDO:Redundant", source="Orphanet:100990"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832669
property_value: exactMatch Orphanet:100990

[Term]
id: MONDO:0015092
name: cleft hard palate
subset: ordo_morphological_anomaly {source="Orphanet:101023"}
xref: ICD10:Q35.1 {source="Orphanet:101023", source="ORDO:101023/e", source="MONDO:equivalentTo"}
xref: Orphanet:101023 {source="MONDO:equivalentTo"}
xref: SCTID:448915004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0016064 {source="Orphanet:101023"} ! cleft palate
property_value: exactMatch http://identifiers.org/snomedct/448915004
property_value: exactMatch Orphanet:101023

[Term]
id: MONDO:0015093
name: sub-cortical nodular heterotopia
subset: ordo_clinical_subtype {source="Orphanet:101029"}
xref: ICD10:Q04.8 {source="ORDO:101029/attributed", source="ORDO:101029/ntbt", source="Orphanet:101029"}
xref: Orphanet:101029 {source="MONDO:equivalentTo"}
is_a: MONDO:0016292 {source="Orphanet:101029"} ! nodular neuronal heterotopia
property_value: exactMatch Orphanet:101029

[Term]
id: MONDO:0015094
name: subependymal nodular heterotopia
subset: gard_rare {source="GARD:0005050"}
subset: ordo_clinical_subtype {source="Orphanet:101030"}
xref: GARD:0005050 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="Orphanet:101030", source="ORDO:101030/attributed", source="ORDO:101030/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071150 {source="Orphanet:101030", source="ORDO:101030/e"}
xref: Orphanet:101030 {source="MONDO:equivalentTo"}
xref: SCTID:699812002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3160906 {source="MONDO:equivalentTo", source="Orphanet:101030", source="ORDO:101030/e"}
is_a: MONDO:0016292 {source="Orphanet:101030", source="linkedlifedata"} ! nodular neuronal heterotopia
property_value: exactMatch http://identifiers.org/meddra/10071150
property_value: exactMatch http://identifiers.org/snomedct/699812002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3160906
property_value: exactMatch Orphanet:101030
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia xsd:anyURI {source="GARD:0005050"}

[Term]
id: MONDO:0015095
name: Peters anomaly-cataract syndrome
subset: ordo_clinical_subtype {source="Orphanet:101033"}
xref: ICD10:Q13.3 {source="Orphanet:101033", source="ORDO:101033/attributed", source="ORDO:101033/ntbt"}
xref: MESH:C537885 {source="Orphanet:101033", source="MONDO:equivalentTo", source="ORDO:101033/e"}
xref: Orphanet:101033 {source="MONDO:equivalentTo"}
xref: UMLS:C2931652 {source="Orphanet:101033", source="MONDO:equivalentTo", source="ORDO:101033/e"}
is_a: MONDO:0011414 {source="MONDOLEX:0015095", source="Orphanet:101033"} ! Peters anomaly (disease)
property_value: exactMatch http://identifiers.org/mesh/C537885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931652
property_value: exactMatch Orphanet:101033

[Term]
id: MONDO:0015096
name: familial hypofibrinogenemia
def: "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." [Orphanet:101041]
subset: gard_rare {source="GARD:0002887"}
subset: ordo_clinical_subtype {source="Orphanet:101041"}
synonym: "hypofibrinogenemia, familial" RELATED [GARD:0002887]
xref: GARD:0002887 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="Orphanet:101041", source="ORDO:101041/attributed", source="ORDO:101041/ntbt"}
xref: Orphanet:101041 {source="MONDO:equivalentTo"}
xref: UMLS:CN197419 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008737 ! congenital afibrinogenemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2584774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197419
property_value: exactMatch Orphanet:101041
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial xsd:anyURI {source="GARD:0002887"}

[Term]
id: MONDO:0015097
name: aortic valve dysplasia
subset: ordo_clinical_subtype {source="Orphanet:101043"}
xref: ICD10:Q23.0 {source="ORDO:101043/ntbt", source="Orphanet:101043"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:101043 {source="MONDO:equivalentTo"}
xref: SCTID:253604004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0017735 {source="Orphanet:101043"} ! congenital aortic valve stenosis
property_value: exactMatch http://identifiers.org/snomedct/253604004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344993
property_value: exactMatch Orphanet:101043

[Term]
id: MONDO:0015098
name: obsolete situs inversus totalis (disease)
is_obsolete: true
replaced_by: MONDO:0010029

[Term]
id: MONDO:0015099
name: unilateral hemispheric polymicrogyria
subset: ordo_clinical_subtype {source="Orphanet:101071"}
xref: ICD10:Q04.3 {source="ORDO:101071/attributed", source="ORDO:101071/ntbt", source="Orphanet:101071"}
xref: Orphanet:101071 {source="MONDO:equivalentTo"}
is_a: MONDO:0017092 {source="Orphanet:101071"} ! unilateral polymicrogyria
property_value: exactMatch Orphanet:101071

[Term]
id: MONDO:0015100
name: aregenerative anemia
subset: ordo_disease {source="Orphanet:101096"}
xref: ICD10:D46.7 {source="Orphanet:101096", source="ORDO:101096/ntbt"}
xref: MedDRA:10054329 {source="Orphanet:101096", source="ORDO:101096/e"}
xref: Orphanet:101096 {source="MONDO:equivalentTo"}
xref: SCTID:89112009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0553669 {source="MONDO:equivalentTo", source="Orphanet:101096", source="ORDO:101096/e"}
is_a: MONDO:0019453 {source="Orphanet:101096"} ! refractory cytopenia with multilineage dysplasia
property_value: exactMatch http://identifiers.org/meddra/10054329
property_value: exactMatch http://identifiers.org/snomedct/89112009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553669
property_value: exactMatch Orphanet:101096

[Term]
id: MONDO:0015101
name: Marin-Amat syndrome
subset: ordo_clinical_subtype {source="Orphanet:101104"}
xref: ICD10:Q07.8 {source="Orphanet:101104", source="ORDO:101104/attributed", source="ORDO:101104/ntbt"}
xref: Orphanet:101104 {source="MONDO:equivalentTo"}
xref: UMLS:CN197448 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007946 {source="Orphanet:101104"} ! jaw-winking syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197448
property_value: exactMatch Orphanet:101104

[Term]
id: MONDO:0015102
name: non-secreting chemodectoma
subset: ordo_clinical_subtype {source="Orphanet:101106"}
synonym: "non-functioning chemodectoma" RELATED []
synonym: "non-secreting chemodectoma" EXACT []
xref: Orphanet:101106 {source="MONDO:equivalentTo"}
is_a: MONDO:0019788 {source="Orphanet:101106"} ! non-secreting paraganglioma
is_a: MONDO:0021053 {source="MONDO:cjm"} ! carotid body paraganglioma
property_value: exactMatch Orphanet:101106

[Term]
id: MONDO:0015103
name: pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome
def: "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion." [Orphanet:101206]
subset: ordo_malformation_syndrome {source="Orphanet:101206"}
synonym: "absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome" EXACT [Orphanet:101206]
synonym: "APV/ADA, Fallot type" EXACT [Orphanet:101206]
synonym: "PVA/ADA, Fallot type" EXACT [Orphanet:101206]
xref: ICD10:Q22.2 {source="ORDO:101206/ntbt", source="Orphanet:101206"}
xref: Orphanet:101206 {source="MONDO:equivalentTo"}
xref: UMLS:CN197455 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020064 {source="Orphanet:101206"} ! pulmonary valve agenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197455
property_value: exactMatch Orphanet:101206

[Term]
id: MONDO:0015104
name: porphyria cutanea tarda
def: "Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis." [Orphanet:101330]
comment: Editor notes: ORDO classifies as inherited but in fact many forms are inherited
subset: ordo_disease {source="Orphanet:101330"}
synonym: "PCT" EXACT [Orphanet:101330]
synonym: "porphyria cutania tarda" RELATED [ONCOTREE:PCT]
xref: DOID:3132 {source="MONDO:equivalentTo"}
xref: GARD:0007433 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E80.1 {source="DOID:3132", source="Orphanet:101330", source="ORDO:101330/specific", source="ORDO:101330/e"}
xref: MedDRA:10036183 {source="Orphanet:101330", source="ORDO:101330/e"}
xref: MESH:D017119 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="ORDO:101330/e"}
xref: NCIT:C27725 {source="DOID:3132", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.26"}
xref: ONCOTREE:PCT {source="MONDO:equivalentTo"}
xref: Orphanet:101330 {source="DOID:3132", source="MONDO:equivalentTo"}
xref: SCTID:61860000 {source="DOID:3132", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.07"}
xref: UMLS:C0162566 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="NCIT:C27725", source="ORDO:101330/e"}
is_a: MONDO:0002406 {source="DOID:3132", source="NCIT:C27725"} ! dermatitis
is_a: MONDO:0019800 {source="Orphanet:101330"} ! chronic hepatic porphyria
relationship: excluded_subClassOf MONDO:0019142 {source="MESH:D017119/inferred", source="MONDO:Redundant", source="NCIT:C27725", source="Orphanet:101330/inferred"} ! inherited porphyria
relationship: excluded_subClassOf MONDO:0020266 {source="Orphanet:101330"} ! genodermatosis with ocular features
property_value: exactMatch DOID:3132
property_value: exactMatch http://identifiers.org/meddra/10036183
property_value: exactMatch http://identifiers.org/mesh/D017119
property_value: exactMatch http://identifiers.org/snomedct/61860000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162566
property_value: exactMatch NCIT:C27725
property_value: exactMatch Orphanet:101330

[Term]
id: MONDO:0015105
name: obsolete African tick typhus
is_obsolete: true
replaced_by: MONDO:0024472

[Term]
id: MONDO:0015106
name: obsolete rare urogenital disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101433"}
xref: Orphanet:101433 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197464 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197464
property_value: exactMatch Orphanet:101433
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015107
name: obsolete rare genetic eye disease
def: "A form of eye disease that is both rare and inborn." [MONDO:patterns/rare_genetic]
comment: TODO consider MESH:D015785
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101435"}
synonym: "rare genetic eye disease" EXACT []
synonym: "rare genetic ophthalmologic disease" EXACT [Orphanet:101435]
xref: Orphanet:101435 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197465 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197465
property_value: exactMatch Orphanet:101435
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005328

[Term]
id: MONDO:0015108
name: obsolete rare non-syndromic intellectual disability
def: "Rare non-syndromic intellectual disability." []
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:101685"}
synonym: "rare intellectual disability without developmental anomaly" RELATED [GARD:0012633]
synonym: "rare non-syndromic intellectual deficiency" RELATED [GARD:0012633]
synonym: "rare non-syndromic intellectual disability" EXACT [MONDO:patterns/rare]
synonym: "rare NSID" EXACT [Orphanet:101685]
xref: GARD:0012633 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared"}
xref: Orphanet:101685 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226598 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226598
property_value: exactMatch Orphanet:101685
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000509

[Term]
id: MONDO:0015109
name: congenital anomaly of the mitral subvalvular apparatus
subset: ordo_morphological_anomaly {source="Orphanet:101932"}
xref: ICD10:Q23.8 {source="ORDO:101932/ntbt", source="Orphanet:101932"}
xref: Orphanet:101932 {source="MONDO:equivalentTo"}
is_a: MONDO:0003767 ! mitral valve disease
is_a: MONDO:0019817 {source="Orphanet:101932"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch Orphanet:101932

[Term]
id: MONDO:0015110
name: genetic cardiac rhythm disease
def: "An instance of cardiac rhythm disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:101934"}
synonym: "genetic cardiac rhythm disease" EXACT [MONDO:patterns/genetic]
xref: Orphanet:101934 {source="MONDO:equivalentTo"}
xref: UMLS:CN197467 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0007263 {source="MONDO:Redundant", source="Orphanet:101934"} ! cardiac rhythm disease
intersection_of: MONDO:0007263 ! cardiac rhythm disease
intersection_of: has_modifier MONDO:0021152 ! inherited
disjoint_from: MONDO:0016348 ! non-genetic cardiac rhythm disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016347", source="MONDO:0020029"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197467
property_value: exactMatch Orphanet:101934

[Term]
id: MONDO:0015111
name: gastroesophageal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101936"}
xref: Orphanet:101936 {source="MONDO:equivalentTo"}
xref: UMLS:CN197468 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004335 {source="MONDO:cjm"} ! digestive system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019997"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197468
property_value: exactMatch Orphanet:101936
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015112
name: obsolete rare pancreatic disease
def: "Any of the forms of pancreas disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101937"}
synonym: "rare pancreas disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:101937 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101937
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002356
consider: UMLS:C0030286 {source="Orphanet:101937"}

[Term]
id: MONDO:0015113
name: obsolete rare vascular liver disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101938"}
xref: Orphanet:101938 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101938
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001
consider: UMLS:C0400923 {source="MONDO:relatedTo", source="Orphanet:101938"}

[Term]
id: MONDO:0015114
name: obsolete rare parenchymal liver disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101939"}
xref: Orphanet:101939 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197471 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197471
property_value: exactMatch Orphanet:101939
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015115
name: obsolete rare genetic metabolic liver disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101940"}
xref: Orphanet:101940 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0851734 {source="MONDO:obsoleteEquivalent", source="Orphanet:101940", source="ORDO:101940/e", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851734
property_value: exactMatch Orphanet:101940
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005066
consider: MedDRA:10019689 {source="Orphanet:101940", source="ORDO:101940/e"}

[Term]
id: MONDO:0015116
name: obsolete rare biliary tract disease
def: "Rare biliary tract disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101941"}
synonym: "rare biliary tract disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:101941 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197473
property_value: exactMatch Orphanet:101941
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004868
consider: UMLS:C0005424 {source="Orphanet:101941"}
consider: UMLS:C0750952 {source="MONDO:relatedTo", source="Orphanet:101941"}

[Term]
id: MONDO:0015117
name: obsolete rare hepatic and biliary tract tumor
def: "Any of the forms of hepatobiliary neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101943"}
synonym: "rare hepatobiliary neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:101943 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197474 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197474
property_value: exactMatch Orphanet:101943
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002514

[Term]
id: MONDO:0015118
name: obsolete rare pulmonary disease
xref: Orphanet:101944 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024115
property_value: exactMatch Orphanet:101944
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
consider: MONDO:0005087
consider: MONDO:0005275

[Term]
id: MONDO:0015119
name: bronchopulmonary tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101945"}
synonym: "rare bronchopulmonary tumor" EXACT DEPRECATED []
xref: Orphanet:101945 {source="MONDO:equivalentTo"}
xref: UMLS:CN197476 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020641 {source="Orphanet:101945"} ! respiratory tract neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020034"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197476
property_value: exactMatch Orphanet:101945
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015120
name: obsolete rare acquired eye disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101949"}
xref: Orphanet:101949 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN197477 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197477
property_value: exactMatch Orphanet:101949
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015121
name: obsolete rare eye tumor
def: "Any of the forms of eye neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101950"}
synonym: "rare eye neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:101950 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101950
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021220
consider: UMLS:C0015414 {source="Orphanet:101950"}

[Term]
id: MONDO:0015122
name: obsolete rare diabetes mellitus
def: "Rare diabetes mellitus." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101952"}
synonym: "rare diabetes mellitus" EXACT []
synonym: "rare diabetes mellitus (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:101952 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226600 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr94-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226600
property_value: exactMatch Orphanet:101952
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005015
consider: UMLS:C0011849 {source="MONDO:subClassOf", source="Orphanet:101952"}
consider: UMLS:C0011860 {source="Orphanet:101952"}

[Term]
id: MONDO:0015123
name: obsolete rare inherited dyslipidemia
def: "Rare lipid metabolism disorder." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101953"}
synonym: "rare dyslipidemia" RELATED [Orphanet:101953]
synonym: "rare lipid metabolism disorder" EXACT []
xref: Orphanet:101953 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101953
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002525
consider: ICD10:E78.0 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.1 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.2 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.3 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.4 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.5 {source="MONDO:relatedTo", source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.6 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.8 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: ICD10:E78.9 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"}
consider: UMLS:C0242339 {source="Orphanet:101953"}

[Term]
id: MONDO:0015124
name: obsolete rare adrenal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101954"}
xref: Orphanet:101954 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101954
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005495
consider: UMLS:C0001621 {source="Orphanet:101954"}

[Term]
id: MONDO:0015125
name: obsolete rare thyroid disease
def: "Rare thyroid disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101955"}
synonym: "rare thyroid disease" EXACT []
synonym: "rare thyroid gland disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:101955 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:101955
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003240
consider: UMLS:C0040128 {source="MONDO:relatedTo", source="Orphanet:101955"}

[Term]
id: MONDO:0015126
name: polyendocrinopathy
subset: ordo_group_of_disorders {source="Orphanet:101956"}
xref: ICD10:E31.0 {source="ORDO:101956/btnt", source="MONDO:superClassOf", source="Orphanet:101956"}
xref: ICD10:E31.1 {source="ORDO:101956/btnt", source="Orphanet:101956"}
xref: ICD10:E31.8 {source="ORDO:101956/btnt", source="Orphanet:101956"}
xref: ICD10:E31.9 {source="ORDO:101956/btnt", source="Orphanet:101956"}
xref: Orphanet:101956 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:101956"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch Orphanet:101956

[Term]
id: MONDO:0015127
name: pituitary deficiency
comment: Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes
subset: ordo_group_of_disorders {source="Orphanet:101957"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:101957/specific", source="Orphanet:101957", source="ORDO:101957/e"}
xref: Orphanet:101957 {source="MONDO:equivalentTo"}
is_a: MONDO:0015889 {source="Orphanet:101957"} ! rare hypothalamic or pituitary disease
relationship: excluded_subClassOf MONDO:0015968 {source="Orphanet:101957"} ! rare genetic hypothalamic or pituitary disease
property_value: exactMatch Orphanet:101957

[Term]
id: MONDO:0015128
name: primary adrenal insufficiency
def: "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." [NCIT:C113172]
subset: ordo_group_of_disorders {source="Orphanet:101958"}
xref: MedDRA:10052381 {source="ORDO:101958/e", source="Orphanet:101958"}
xref: NCIT:C113172 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:101958 {source="MONDO:equivalentTo"}
xref: UMLS:C3887896 {source="NCIT:C113172", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005495 {source="Orphanet:101958"} ! adrenal gland disease
relationship: excluded_subClassOf MONDO:0000004 {source="NCIT:C113172"} ! adrenocortical insufficiency
property_value: exactMatch http://identifiers.org/meddra/10052381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887896
property_value: exactMatch NCIT:C113172
property_value: exactMatch Orphanet:101958

[Term]
id: MONDO:0015129
name: chronic primary adrenal insufficiency
def: "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." [Orphanet:101959]
subset: ordo_group_of_disorders {source="Orphanet:101959"}
synonym: "Addison disease" EXACT [NCIT:C26689]
synonym: "Addison's disease" EXACT [NCIT:C26689]
synonym: "Addison's disease" RELATED [NCIT:C26689]
synonym: "chronic adrenocorticoid insufficiency" EXACT [Orphanet:101959]
synonym: "CPAI" EXACT [Orphanet:101959]
synonym: "primary adrenal insufficiency, chronic" EXACT [MONDO:patterns/chronic]
synonym: "Primary Hypoadrenalism" EXACT [NCIT:C26689]
xref: NCIT:C26689 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.84"}
xref: Orphanet:101959 {source="MONDO:equivalentTo"}
is_a: MONDO:0015128 {source="MONDO:Redundant", source="MONDOLEX:0015129", source="NCIT:C26689", source="Orphanet:101959"} ! primary adrenal insufficiency
property_value: exactMatch NCIT:C26689
property_value: exactMatch Orphanet:101959

[Term]
id: MONDO:0015130
name: acquired chronic primary adrenal insufficiency
def: "An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:101963"}
synonym: "acquired chronic primary adrenal insufficiency" EXACT [MONDO:patterns/acquired]
xref: Orphanet:101963 {source="MONDO:equivalentTo"}
is_a: MONDO:0015129 {source="MONDO:Redundant", source="MONDOLEX:0015130", source="Orphanet:101963"} ! chronic primary adrenal insufficiency
intersection_of: MONDO:0015129 ! chronic primary adrenal insufficiency
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:101963

[Term]
id: MONDO:0015131
name: congenital combined immunodeficiency
def: "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern." [NCIT:C27871]
subset: ordo_group_of_disorders {source="Orphanet:101972"}
synonym: "combined immunodeficiency" EXACT [DOID:628]
synonym: "combined T and B cell immunodeficiency" RELATED [Orphanet:101972]
synonym: "combined T cell and B cell immunodeficiency" RELATED [DOID:628]
synonym: "congenital combined immunodeficiency" EXACT [DOID:628, NCIT:C27871]
synonym: "X-linked combined immunodeficiency" EXACT [DOID:628]
xref: DOID:628 {source="MONDO:equivalentTo"}
xref: ICD10:D81 {source="DOID:628"}
xref: ICD10:D81.0 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.1 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.2 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.3 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.4 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.5 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.6 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.7 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.8 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"}
xref: ICD10:D81.9 {source="ORDO:101972/specific", source="Orphanet:101972", source="DOID:628", source="ORDO:101972/btnt"}
xref: ICD9:279.2 {source="DOID:628"}
xref: NCIT:C27871 {source="NCIT:C27871", source="DOID:628", source="MONDO:equivalentTo"}
xref: Orphanet:101972 {source="DOID:628", source="MONDO:equivalentTo"}
xref: UMLS:C0494261 {source="NCIT:C27871", source="DOID:628", source="MONDO:equivalentTo"}
is_a: MONDO:0015823 {source="Orphanet:101972"} ! primary immunodeficiency due to a defect in adaptive immunity
is_a: MONDO:0021094 {source="MONDOLEX:0015131", source="NCIT:C27871"} ! immunodeficiency disease
property_value: closeMatch http://identifiers.org/snomedct/191003005
property_value: exactMatch DOID:628
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494261
property_value: exactMatch NCIT:C27871
property_value: exactMatch Orphanet:101972

[Term]
id: MONDO:0015132
name: immunodeficiency predominantly affecting antibody production
subset: ordo_group_of_disorders {source="Orphanet:101977"}
xref: ICD10:D80.0 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.1 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.2 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.3 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.4 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.5 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.6 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.7 {source="ORDO:101977/btnt", source="MONDO:superClassOf", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.8 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: ICD10:D80.9 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"}
xref: Orphanet:101977 {source="MONDO:equivalentTo"}
is_a: MONDO:0015823 {source="Orphanet:101977"} ! primary immunodeficiency due to a defect in adaptive immunity
property_value: exactMatch Orphanet:101977

[Term]
id: MONDO:0015133
name: quantitative and/or qualitative congenital phagocyte defect
comment: Editor note: check how relates to phagocytosis terms
subset: ordo_group_of_disorders {source="Orphanet:101985"}
xref: Orphanet:101985 {source="MONDO:equivalentTo"}
is_a: MONDO:0015135 {source="Orphanet:101985"} ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0024627 ! phagocytic cell dysfunction
property_value: exactMatch Orphanet:101985

[Term]
id: MONDO:0015134
name: constitutional neutropenia
def: "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." [NCIT:C61242]
subset: ordo_group_of_disorders {source="Orphanet:101987"}
synonym: "congenital neutropenia" EXACT [NCIT:C61242]
synonym: "genetic infantile agranulocytosis" EXACT [NCIT:C61242]
synonym: "infantile genetic agranulocytosis" EXACT [NCIT:C61242]
synonym: "Kostmann disease" EXACT [NCIT:C61242]
synonym: "Kostmann neutropenia" EXACT [NCIT:C61242]
synonym: "Kostmann syndrome" EXACT [NCIT:C61242]
xref: COHD:434895 {source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="MONDO:relatedTo", source="ORDO:101987/attributed", source="ORDO:101987/ntbt", source="Orphanet:101987"}
xref: NCIT:C61242 {source="MONDO:equivalentTo"}
xref: Orphanet:101987 {source="MONDO:equivalentTo"}
is_a: MONDO:0001475 ! neutropenia
is_a: MONDO:0009332 {source="NCIT:C61242"} ! congenital hematological disorder
is_a: MONDO:0015133 {source="Orphanet:101987"} ! quantitative and/or qualitative congenital phagocyte defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340970
property_value: exactMatch NCIT:C61242
property_value: exactMatch Orphanet:101987

[Term]
id: MONDO:0015135
name: primary immunodeficiency due to a genetic defect in innate immunity
subset: ordo_group_of_disorders {source="Orphanet:101988"}
synonym: "primary immunodeficiency due to a defect in innate immunity" RELATED [Orphanet:101988]
xref: Orphanet:101988 {source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="MONDO:Redundant", source="Orphanet:101988"} ! primary immunodeficiency disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015138"} ! rare
property_value: exactMatch Orphanet:101988

[Term]
id: MONDO:0015136
name: immunodeficiency due to a genetic complement cascade protein anomaly
comment: Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit#
subset: ordo_group_of_disorders {source="Orphanet:101992"}
synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [Orphanet:101992]
xref: ICD10:D84.1 {source="ORDO:101992/e", source="Orphanet:101992", source="ORDO:101992/specific"}
xref: Orphanet:101992 {source="MONDO:equivalentTo"}
is_a: MONDO:0015135 {source="Orphanet:101992"} ! primary immunodeficiency due to a genetic defect in innate immunity
property_value: exactMatch Orphanet:101992

[Term]
id: MONDO:0015137
name: periodic fever syndrome
def: "fevers of unknown etiology recurring over months or years." [NCIT:C118240]
subset: ordo_group_of_disorders {source="Orphanet:101995"}
xref: ICD10:E85.0 {source="Orphanet:101995", source="ORDO:101995/ntbt"}
xref: MedDRA:10034533 {source="Orphanet:101995", source="ORDO:101995/e"}
xref: NCIT:C118240 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:101995 {source="MONDO:equivalentTo"}
xref: UMLS:C0015974 {source="Orphanet:101995", source="ORDO:101995/e", source="MONDO:equivalentTo"}
xref: UMLS:C3889979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C118240"}
is_a: MONDO:0019751 {source="Orphanet:101995"} ! autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/meddra/10034533
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3889979
property_value: exactMatch NCIT:C118240
property_value: exactMatch Orphanet:101995

[Term]
id: MONDO:0015138
name: obsolete rare genetic primary immunodeficiency
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101997"}
synonym: "primary immunodeficiency" RELATED [Orphanet:101997]
xref: Orphanet:101997 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:58606001 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0398686 {source="MONDO:obsoleteEquivalent", source="Orphanet:101997", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/snomedct/58606001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398686
property_value: exactMatch Orphanet:101997
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003778
consider: MedDRA:10064859 {source="Orphanet:101997", source="ORDO:101997/e"}

[Term]
id: MONDO:0015139
name: obsolete rare epilepsy
def: "Rare epilepsy." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:101998"}
synonym: "rare epilepsy" EXACT [MONDO:patterns/rare]
xref: Orphanet:101998 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN244924 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244924
property_value: exactMatch Orphanet:101998
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005027
consider: ICD10:G40.0 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.1 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.2 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.3 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.4 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.5 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.6 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.7 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.8 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: ICD10:G40.9 {source="ORDO:101998/ntbt", source="Orphanet:101998"}
consider: UMLS:C0014544 {source="Orphanet:101998"}

[Term]
id: MONDO:0015140
name: early-onset autosomal dominant Alzheimer disease
def: "Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." [Orphanet:1020]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:1020"}
synonym: "early-onset familial autosomal dominant Alzheimer disease" EXACT [Orphanet:1020]
synonym: "early-onset, autosomal dominant Alzheimer disease" RELATED [GARD:0012798]
synonym: "EOFAD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1236/, Orphanet:1020]
xref: GARD:0012798 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G30.0 {source="ORDO:1020/attributed", source="ORDO:1020/ntbt", source="Orphanet:1020"}
xref: Orphanet:1020 {source="MONDO:equivalentTo"}
xref: UMLS:CN043596 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0004975 {source="MONDOLEX:0015140", source="Orphanet:1020"} ! Alzheimer disease
is_a: MONDO:0021037 {source="MONDO:Redundant", source="Orphanet:1020"} ! genetic neurodegenerative disease with dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0276496
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043596
property_value: exactMatch Orphanet:1020

[Term]
id: MONDO:0015141
name: disorder of medulla oblongata
def: "A disease that involves the medulla oblongata." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:102000"}
synonym: "disease of medulla oblongata" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of medulla oblongata" EXACT []
synonym: "disorder of medulla oblongata" EXACT [MONDO:patterns/location_top]
synonym: "medulla oblongata disease" EXACT [MONDO:design_pattern]
synonym: "medulla oblongata disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "medullar disease" RELATED [Orphanet:102000]
xref: Orphanet:102000 {source="MONDO:equivalentTo"}
xref: UMLS:CN197487 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197487
property_value: exactMatch Orphanet:102000

[Term]
id: MONDO:0015142
name: obsolete ataxia syndrome
is_obsolete: true
replaced_by: MONDO:0000437

[Term]
id: MONDO:0015143
name: obsolete rare movement disorder
def: "Rare movement disorder." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:102003"}
synonym: "rare movement disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:102003 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:102003
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395
consider: UMLS:C0026650 {source="Orphanet:102003"}

[Term]
id: MONDO:0015144
name: brain inflammatory disease
def: "An inflammatory disease involving a pathogenic inflammatory response in the brain." [MONDO:patterns/inflammatory_disease_by_site]
subset: ordo_group_of_disorders {source="Orphanet:102005"}
synonym: "brain inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of brain" EXACT []
xref: Orphanet:102005 {source="MONDO:equivalentTo"}
xref: UMLS:CN197488 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005156 ! encephalomyelitis
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0015916 {source="Orphanet:102005"} ! rare neuroinflammatory or neuroimmunological disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197488
property_value: exactMatch Orphanet:102005

[Term]
id: MONDO:0015145
name: neurovascular malformation
subset: ordo_group_of_disorders {source="Orphanet:102006"}
xref: Orphanet:102006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020676 {source="Orphanet:102006"} ! disease of central nervous system or retinal vasculature
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: exactMatch Orphanet:102006

[Term]
id: MONDO:0015146
name: classic lissencephaly
subset: ordo_group_of_disorders {source="Orphanet:102009"}
synonym: "ILS" RELATED [GARD:0005049]
synonym: "lissencephaly classic" RELATED [GARD:0005049]
synonym: "lissencephaly sequence isolated" RELATED [GARD:0005049]
synonym: "lissencephaly type 1" EXACT [Orphanet:102009]
xref: GARD:0005049 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="ORDO:102009/ntbt", source="Orphanet:102009", source="ORDO:102009/inclusion"}
xref: Orphanet:102009 {source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="Orphanet:102009"} ! lissencephaly spectrum disorders
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843916
property_value: exactMatch Orphanet:102009

[Term]
id: MONDO:0015147
name: other syndrome with lissencephaly as a major feature
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:102010"}
xref: ICD10:Q04.3 {source="ORDO:102010/attributed", source="ORDO:102010/ntbt", source="Orphanet:102010"}
xref: Orphanet:102010 {source="MONDO:equivalentTo"}
xref: UMLS:CN197489 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="Orphanet:102010"} ! lissencephaly spectrum disorders
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197489
property_value: exactMatch Orphanet:102010
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0015148
name: lissencephaly type 3
subset: ordo_group_of_disorders {source="Orphanet:102011"}
xref: ICD10:Q04.3 {source="ORDO:102011/inclusion", source="ORDO:102011/ntbt", source="Orphanet:102011"}
xref: Orphanet:102011 {source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="Orphanet:102011"} ! lissencephaly spectrum disorders
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969029
property_value: exactMatch Orphanet:102011

[Term]
id: MONDO:0015149
name: pure hereditary spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:102012"}
synonym: "Pure familial spastic paraplegia" EXACT [Orphanet:102012]
synonym: "Pure HSP" EXACT [Orphanet:102012]
synonym: "Pure SPG" EXACT [Orphanet:102012]
synonym: "uncomplicated familial spastic paraplegia" EXACT [Orphanet:102012]
synonym: "uncomplicated hereditary spastic paraplegia" EXACT [Orphanet:102012]
synonym: "uncomplicated HSP" EXACT [Orphanet:102012]
synonym: "uncomplicated SPG" EXACT [Orphanet:102012]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:102012", source="ORDO:102012/attributed", source="ORDO:102012/ntbt"}
xref: Orphanet:102012 {source="MONDO:equivalentTo"}
xref: SCTID:230260007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0393555 {source="Orphanet:102012", source="MONDO:equivalentTo", source="ORDO:102012/e"}
is_a: MONDO:0019064 {source="MONDOLEX:0015149", source="Orphanet:102012", source="linkedlifedata"} ! hereditary spastic paraplegia
property_value: exactMatch http://identifiers.org/snomedct/230260007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393555
property_value: exactMatch Orphanet:102012

[Term]
id: MONDO:0015150
name: complex hereditary spastic paraplegia
def: "A hereditary spastic paraplegia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:102013"}
synonym: "Complex familial spastic paraplegia" EXACT [Orphanet:102013]
synonym: "Complex HSP" EXACT [Orphanet:102013]
synonym: "Complex SPG" EXACT [Orphanet:102013]
synonym: "complicated familial spastic paraplegia" EXACT [Orphanet:102013]
synonym: "complicated hereditary spastic paraplegia" EXACT [Orphanet:102013]
synonym: "complicated HSP" EXACT [Orphanet:102013]
synonym: "complicated SPG" EXACT [Orphanet:102013]
synonym: "syndrome associated with hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with hereditary spastic paraplegia" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:102013", source="ORDO:102013/attributed", source="ORDO:102013/ntbt"}
xref: Orphanet:102013 {source="MONDO:equivalentTo"}
xref: SCTID:230261006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.92/1.80"}
xref: UMLS:C0393556 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN197491 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019064 {source="MONDO:Redundant", source="MONDOLEX:0015150", source="Orphanet:102013", source="linkedlifedata"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://identifiers.org/snomedct/230261006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393556
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197491
property_value: exactMatch Orphanet:102013

[Term]
id: MONDO:0015151
name: autosomal dominant limb-girdle muscular dystrophy
def: "Autosomal dominant form of limb-girdle muscular dystrophy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:102014"}
synonym: "limb-girdle muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant" EXACT [OMIMPS:159000]
xref: DOID:0110273 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:102014", source="DOID:0110273", source="ORDO:102014/attributed", source="ORDO:102014/ntbt"}
xref: OMIMPS:159000 {source="DOID:0110273", source="MONDO:nonExistent"}
xref: OMIMPS:603511 {source="MONDO:equivalentTo"}
xref: Orphanet:102014 {source="MONDO:equivalentTo", source="DOID:0110273"}
xref: UMLS:CN043626 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN228919 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016971 {source="DOID:0110273", source="MONDO:Redundant", source="Orphanet:102014"} ! limb-girdle muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0110273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228919
property_value: exactMatch Orphanet:102014

[Term]
id: MONDO:0015152
name: autosomal recessive limb-girdle muscular dystrophy
def: "Autosomal recessive form of limb-girdle muscular dystrophy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:102015"}
synonym: "limb-girdle muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive" EXACT [OMIMPS:253600]
xref: DOID:0110274 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:102015", source="ORDO:102015/attributed", source="ORDO:102015/ntbt", source="DOID:0110274"}
xref: MESH:C538640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:253600 {source="MONDO:equivalentTo", source="DOID:0110274"}
xref: Orphanet:102015 {source="MONDO:equivalentTo", source="DOID:0110274"}
xref: UMLS:C2931907 {source="Orphanet:102015", source="ORDO:102015/e", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016971 {source="DOID:0110274", source="MESH:C538640", source="MONDO:Redundant", source="Orphanet:102015"} ! limb-girdle muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0110274
property_value: exactMatch http://identifiers.org/mesh/C538640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931907
property_value: exactMatch Orphanet:102015

[Term]
id: MONDO:0015153
name: autosomal monosomy
subset: ordo_group_of_disorders {source="Orphanet:102020"}
synonym: "autosomal deletion" EXACT [Orphanet:102020]
xref: ICD10:Q93.0 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.1 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.2 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.3 {source="MONDO:relatedTo", source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.4 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.5 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.6 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.7 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.8 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: ICD10:Q93.9 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"}
xref: Orphanet:102020 {source="MONDO:equivalentTo"}
is_a: MONDO:0020049 {source="Orphanet:102020"} ! autosomal anomaly
is_a: MONDO:0020639 ! monosomy
intersection_of: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0020639 ! monosomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026499
property_value: exactMatch Orphanet:102020

[Term]
id: MONDO:0015154
name: obsolete rickettsial disease
is_obsolete: true
replaced_by: MONDO:0006956

[Term]
id: MONDO:0015155
name: obsolete spotted fever rickettsiosis
is_obsolete: true
replaced_by: MONDO:0001195

[Term]
id: MONDO:0015156
name: obsolete typhus-group rickettsiosis
is_obsolete: true
replaced_by: MONDO:0001246

[Term]
id: MONDO:0015157
name: human herpesvirus 8-related tumor
comment: Editor note: TODO check this
subset: ordo_group_of_disorders {source="Orphanet:102024"}
synonym: "HHV-8-related disorder" EXACT [Orphanet:102024]
xref: Orphanet:102024 {source="MONDO:equivalentTo"}
xref: UMLS:CN226610 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017341 {source="Orphanet:102024"} ! virus associated tumor
intersection_of: MONDO:0005070 ! neoplasm (disease)
intersection_of: disease_arises_from_feature MONDO:0005187 ! human herpesvirus 8 infection
relationship: disease_arises_from_feature MONDO:0005187 ! human herpesvirus 8 infection
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226610
property_value: exactMatch Orphanet:102024

[Term]
id: MONDO:0015158
name: unexplained periodic fever syndrome
subset: ordo_group_of_disorders {source="Orphanet:102237"}
xref: ICD10:E85.0 {source="Orphanet:102237", source="ORDO:102237/ntbt"}
xref: Orphanet:102237 {source="MONDO:equivalentTo"}
xref: UMLS:CN197498 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015137 {source="Orphanet:102237"} ! periodic fever syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197498
property_value: exactMatch Orphanet:102237

[Term]
id: MONDO:0015159
name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subset: ordo_group_of_disorders {source="Orphanet:102283"}
synonym: "MCA/MR" EXACT [Orphanet:102283]
synonym: "multiple congenital anomalies-intellectual disability with or without dysmorphism" EXACT [Orphanet:102283]
xref: Orphanet:102283 {source="MONDO:equivalentTo"}
xref: UMLS:CN228396 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019042 {source="Orphanet:102283"} ! multiple congenital anomalies/dysmorphic syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228396
property_value: exactMatch Orphanet:102283

[Term]
id: MONDO:0015160
name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
subset: ordo_group_of_disorders {source="Orphanet:102284"}
synonym: "MCA/variable MR" EXACT [Orphanet:102284]
synonym: "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:102284]
xref: Orphanet:102284 {source="MONDO:equivalentTo"}
is_a: MONDO:0019042 {source="Orphanet:102284"} ! multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:102284

[Term]
id: MONDO:0015161
name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subset: ordo_group_of_disorders {source="Orphanet:102285"}
synonym: "MCA without intellectual disability" EXACT [Orphanet:102285]
synonym: "multiple congenital anomalies without intellectual disability with or without dysmorphism" EXACT [Orphanet:102285]
xref: Orphanet:102285 {source="MONDO:equivalentTo"}
is_a: MONDO:0019042 {source="Orphanet:102285"} ! multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:102285

[Term]
id: MONDO:0015162
name: obsolete rare syndromic intellectual disability
def: "Rare syndromic intellectual disability." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:102369"}
synonym: "rare syndromic intellectual disability" EXACT [MONDO:patterns/rare]
xref: Orphanet:102369 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226611 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226611
property_value: exactMatch Orphanet:102369
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000508

[Term]
id: MONDO:0015163
name: primary glomerular disease
subset: ordo_group_of_disorders {source="Orphanet:102373"}
xref: Orphanet:102373 {source="MONDO:equivalentTo"}
xref: UMLS:CN197503 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019722 {source="Orphanet:102373"} ! glomerular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197503
property_value: exactMatch Orphanet:102373

[Term]
id: MONDO:0015164
name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
def: "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." [Orphanet:102379]
subset: ordo_disease {source="Orphanet:102379"}
synonym: "AML and myelodysplastic syndromes related to alkylating agent" EXACT [Orphanet:102379]
xref: ICD10:C92.8 {source="Orphanet:102379", source="ORDO:102379/ntbt"}
xref: Orphanet:102379 {source="MONDO:equivalentTo"}
xref: UMLS:CN197504 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019457 {source="Orphanet:102379"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197504
property_value: exactMatch Orphanet:102379

[Term]
id: MONDO:0015165
name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
def: "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." [Orphanet:102381]
subset: ordo_disease {source="Orphanet:102381"}
synonym: "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" EXACT [Orphanet:102381]
xref: ICD10:C92.0 {source="ORDO:102381/ntbt", source="Orphanet:102381"}
xref: Orphanet:102381 {source="MONDO:equivalentTo"}
xref: UMLS:CN197505 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019457 {source="Orphanet:102381"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197505
property_value: exactMatch Orphanet:102381

[Term]
id: MONDO:0015166
name: acute myeloid leukemia with t(8;21)(q22;q22) translocation
subset: ordo_disease {source="Orphanet:102724"}
synonym: "AML with t(8;21)(q22;q22) translocation" EXACT [Orphanet:102724]
xref: ICD10:C92.0 {source="ORDO:102724/ntbt", source="Orphanet:102724"}
xref: Orphanet:102724 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:102724"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch Orphanet:102724

[Term]
id: MONDO:0015167
name: amniotic band syndrome
def: "Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." [Orphanet:1034]
subset: ordo_group_of_disorders {source="Orphanet:1034"}
synonym: "Adam syndrome" EXACT [Orphanet:1034]
synonym: "amniotic band constriction" EXACT [NCIT:C84552]
synonym: "amniotic bands" EXACT []
synonym: "amniotic bands sequence" RELATED [GARD:0000429]
synonym: "amniotic deformity-adhesion-mutilation syndrome" EXACT [Orphanet:1034]
synonym: "congenital constricting bands" RELATED [GARD:0000429]
synonym: "deformity due to amniotic band" EXACT [NCIT:C84552]
synonym: "familial amniotic bands" RELATED [GARD:0000429]
xref: GARD:0000429 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q79.8 {source="Orphanet:1034", source="ORDO:1034/attributed", source="ORDO:1034/ntbt"}
xref: MESH:D000652 {source="ORDO:1034/e", source="Orphanet:1034", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84552 {source="MONDO:equivalentTo"}
xref: Orphanet:1034 {source="MONDO:equivalentTo"}
xref: SCTID:440214006 {source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:1034"} ! non-syndromic terminal limb defects
property_value: exactMatch http://identifiers.org/mesh/D000652
property_value: exactMatch http://identifiers.org/snomedct/440214006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527388
property_value: exactMatch NCIT:C84552
property_value: exactMatch Orphanet:1034

[Term]
id: MONDO:0015168
name: arthrogryposis multiplex congenita
def: "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." [Orphanet:1037]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:1037"}
synonym: "AMC" EXACT [Orphanet:1037]
synonym: "amyoplasia congenita" EXACT [Orphanet:1037]
synonym: "Arthromyodysplasia congenita" EXACT [Orphanet:1037]
synonym: "congenital amyoplasia" EXACT [Orphanet:1037]
synonym: "congenital arthromyodysplasia" EXACT [Orphanet:1037]
synonym: "fibrous ankylosis of multiple joints" RELATED [GARD:0000777]
synonym: "Guerin-Stern syndrome" RELATED [GARD:0000777]
synonym: "Guérin-Stern syndrome" RELATED [GARD:0000777]
synonym: "multiple congenital arthrogryposis" EXACT [Orphanet:1037]
synonym: "myodysplasia" EXACT [Orphanet:1037]
synonym: "myodystrophia fetalis deformans" RELATED [GARD:0000777]
synonym: "Otto syndrome" RELATED [GARD:0000777]
synonym: "rocher-Sheldon syndrome" RELATED [GARD:0000777]
synonym: "Rossi syndrome" RELATED [GARD:0000777]
xref: GARD:0000777 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q74.3 {source="ORDO:1037/specific", source="Orphanet:1037", source="ORDO:1037/e"}
xref: MedDRA:10051643 {source="Orphanet:1037", source="ORDO:1037/e"}
xref: Orphanet:1037 {source="MONDO:equivalentTo"}
is_a: MONDO:0015225 {source="Orphanet:1037"} ! arthrogryposis syndrome
property_value: exactMatch http://identifiers.org/meddra/10051643
property_value: exactMatch http://identifiers.org/mesh/C536613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931264
property_value: exactMatch Orphanet:1037

[Term]
id: MONDO:0015169
name: chronic diarrhea due to glucoamylase deficiency
def: "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." [Orphanet:103907]
subset: ordo_disease {source="Orphanet:103907"}
synonym: "chronic diarrhea due to glucoamylase deficiency" EXACT []
synonym: "maltase glucoamylase deficiency" RELATED []
synonym: "maltase-glucoamylase deficiency" EXACT [Orphanet:103907]
xref: ICD10:E74.3 {source="ORDO:103907/attributed", source="ORDO:103907/ntbt", source="Orphanet:103907"}
xref: Orphanet:103907 {source="MONDO:equivalentTo"}
xref: SCTID:716277000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4275068 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015181 {source="Orphanet:103907"} ! congenital intestinal disease due to an enzymatic defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0017706 {source="Orphanet:103907"} ! disorder of carbohydrate absorption and transport
is_a: MONDO:0044751 ! chronic diarrheal disease
property_value: exactMatch http://identifiers.org/snomedct/716277000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275068
property_value: exactMatch Orphanet:103907

[Term]
id: MONDO:0015170
name: congenital sodium diarrhea
def: "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis." [Orphanet:103908]
subset: ordo_disease {source="Orphanet:103908"}
synonym: "Na-H exchange deficiency" EXACT [Orphanet:103908]
xref: ICD10:P78.3 {source="ORDO:103908/attributed", source="ORDO:103908/ntbt", source="Orphanet:103908"}
xref: Orphanet:103908 {source="MONDO:equivalentTo"}
xref: SCTID:18805001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000824 ! congenital diarrhea
is_a: MONDO:0015178 {source="Orphanet:103908"} ! congenital intestinal transport defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267663
property_value: exactMatch http://identifiers.org/snomedct/18805001
property_value: exactMatch Orphanet:103908

[Term]
id: MONDO:0015171
name: congenital enterocyte heparan sulfate deficiency
def: "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." [Orphanet:103910]
subset: ordo_disease {source="Orphanet:103910"}
xref: ICD10:P78.3 {source="ORDO:103910/attributed", source="ORDO:103910/ntbt", source="Orphanet:103910"}
xref: Orphanet:103910 {source="MONDO:equivalentTo"}
xref: SCTID:725591002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015182 {source="Orphanet:103910"} ! congenital enteropathy involving intestinal mucosa development
property_value: exactMatch http://identifiers.org/snomedct/725591002
property_value: exactMatch Orphanet:103910

[Term]
id: MONDO:0015172
name: epithelio-exfoliative colitis-deafness syndrome
def: "This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." [Orphanet:103912]
subset: ordo_disease {source="Orphanet:103912"}
xref: ICD10:P78.3 {source="ORDO:103912/attributed", source="ORDO:103912/ntbt", source="Orphanet:103912"}
xref: Orphanet:103912 {source="MONDO:equivalentTo"}
xref: UMLS:CN226615 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015182 {source="Orphanet:103912"} ! congenital enteropathy involving intestinal mucosa development
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226615
property_value: exactMatch Orphanet:103912

[Term]
id: MONDO:0015173
name: autoimmune enteropathy type 2
subset: ordo_disease {source="Orphanet:103916"}
xref: ICD10:K52.8 {source="ORDO:103916/ntbt", source="Orphanet:103916"}
xref: Orphanet:103916 {source="MONDO:equivalentTo"}
xref: UMLS:CN226616 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019126 {source="Orphanet:103916"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:103916"} ! autoimmune enteropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226616
property_value: exactMatch Orphanet:103916

[Term]
id: MONDO:0015174
name: autoimmune enteropathy type 3
subset: ordo_disease {source="Orphanet:103917"}
xref: ICD10:K52.8 {source="Orphanet:103917", source="ORDO:103917/ntbt"}
xref: Orphanet:103917 {source="MONDO:equivalentTo"}
xref: UMLS:CN226617 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019126 {source="Orphanet:103917"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:103917"} ! autoimmune enteropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226617
property_value: exactMatch Orphanet:103917

[Term]
id: MONDO:0015175
name: autoimmune pancreatitis
def: "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP (see this term) which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP (see this term) which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." [Orphanet:103919]
subset: ordo_disease {source="Orphanet:103919"}
synonym: "AIP" EXACT [Orphanet:103919]
synonym: "lymphoplasmocytic sclerosing pancreatitis" RELATED [GARD:0010911]
xref: DOID:0040091 {source="MONDO:equivalentTo"}
xref: GARD:0010911 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K86.1 {source="ORDO:103919/ntbt", source="Orphanet:103919"}
xref: MedDRA:10069002 {source="Orphanet:103919", source="ORDO:103919/e"}
xref: Orphanet:103919 {source="MONDO:equivalentTo"}
xref: SCTID:448542008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2609129 {source="DOID:0040091", source="MONDO:equivalentTo", source="Orphanet:103919", source="ORDO:103919/e"}
is_a: MONDO:0000569 {source="DOID:0040091", source="MONDO:Redundant"} ! autoimmune disease of endocrine system
is_a: MONDO:0004982 ! pancreatitis
is_a: MONDO:0017287 {source="Orphanet:103919"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/2898300013
property_value: exactMatch DOID:0040091
property_value: exactMatch http://identifiers.org/meddra/10069002
property_value: exactMatch http://identifiers.org/snomedct/448542008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609129
property_value: exactMatch Orphanet:103919

[Term]
id: MONDO:0015176
name: undetermined colitis
def: "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." [Orphanet:103920]
subset: ordo_disease {source="Orphanet:103920"}
xref: ICD10:K52.3 {source="MONDO:relatedTo", source="Orphanet:103920", source="ORDO:103920/e"}
xref: Orphanet:103920 {source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="Orphanet:103920"} ! inflammatory bowel disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015187"} ! rare
property_value: exactMatch Orphanet:103920

[Term]
id: MONDO:0015177
name: metaphyseal anadysplasia
def: "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." [Orphanet:1040]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1040"}
synonym: "early-onset regressive form of metaphyseal dysplasia" RELATED [GARD:0003562]
synonym: "MAD" RELATED [GARD:0003562]
synonym: "Maroteaux Verloes Stanescu syndrome" RELATED [GARD:0003562]
synonym: "Maroteaux-Verloes-Stanescu syndrome" EXACT [Orphanet:1040]
synonym: "regressive metaphyseal dysplasia" EXACT [GARD:0003562, Orphanet:1040]
xref: GARD:0003562 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.5 {source="Orphanet:1040", source="ORDO:1040/attributed", source="ORDO:1040/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537351 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1040", source="ORDO:1040/e"}
xref: Orphanet:1040 {source="MONDO:equivalentTo"}
xref: SCTID:254085009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0432226 {source="MONDO:equivalentTo", source="Orphanet:1040", source="ORDO:1040/e", source="GARD:0003562"}
is_a: MONDO:0019693 {source="Orphanet:1040"} ! multiple metaphyseal dysplasia
property_value: closeMatch http://identifiers.org/omim/309645
property_value: exactMatch http://identifiers.org/mesh/C537351
property_value: exactMatch http://identifiers.org/snomedct/254085009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432226
property_value: exactMatch Orphanet:1040
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia xsd:anyURI {source="GARD:0003562"}

[Term]
id: MONDO:0015178
name: congenital intestinal transport defect
subset: ordo_group_of_disorders {source="Orphanet:104003"}
xref: Orphanet:104003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:104003"} ! intestinal disease
is_a: MONDO:0044975 ! disease of transporter activity
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch Orphanet:104003

[Term]
id: MONDO:0015179
name: intestinal disease due to vitamin absorption anomaly
comment: Editor note: groups different mechanisms:
subset: ordo_group_of_disorders {source="Orphanet:104004"}
xref: Orphanet:104004 {source="MONDO:equivalentTo"}
xref: UMLS:CN197521 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197521
property_value: exactMatch Orphanet:104004

[Term]
id: MONDO:0015180
name: intestinal disease due to fat malabsorption
subset: ordo_group_of_disorders {source="Orphanet:104005"}
xref: Orphanet:104005 {source="MONDO:equivalentTo"}
xref: UMLS:CN197522 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197522
property_value: exactMatch Orphanet:104005

[Term]
id: MONDO:0015181
name: congenital intestinal disease due to an enzymatic defect
subset: ordo_group_of_disorders {source="Orphanet:104006"}
xref: Orphanet:104006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:104006"} ! intestinal disease
is_a: MONDO:0044976 ! disease of catalytic activity
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch Orphanet:104006

[Term]
id: MONDO:0015182
name: congenital enteropathy involving intestinal mucosa development
subset: ordo_group_of_disorders {source="Orphanet:104007"}
xref: Orphanet:104007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:104007"} ! intestinal disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch Orphanet:104007

[Term]
id: MONDO:0015183
name: short bowel syndrome
def: "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:104008]
subset: gard_rare {source="GARD:0001502"}
subset: ordo_group_of_disorders {source="Orphanet:104008"}
synonym: "acquired short bowel syndrome" EXACT [DOID:10605]
synonym: "short gut syndrome" EXACT [CSP2005:0724-8009, DOID:10605]
xref: DOID:10605 {source="MONDO:equivalentTo"}
xref: GARD:0001502 {source="MONDO:equivalentTo"}
xref: ICD9:579.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049416 {source="Orphanet:104008", source="ORDO:104008/e"}
xref: MESH:D012778 {source="Orphanet:104008", source="ORDO:104008/e", source="DOID:10605", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C99059 {source="DOID:10605", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:104008 {source="MONDO:equivalentTo"}
xref: SCTID:26629001 {source="DOID:10605", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0036992 {source="Orphanet:104008", source="ORDO:104008/e", source="DOID:10605", source="MONDO:equivalentTo", source="NCIT:C99059"}
is_a: MONDO:0005020 {source="Orphanet:104008"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/204768009
property_value: closeMatch http://identifiers.org/snomedct/235724004
property_value: exactMatch DOID:10605
property_value: exactMatch http://identifiers.org/meddra/10049416
property_value: exactMatch http://identifiers.org/mesh/D012778
property_value: exactMatch http://identifiers.org/snomedct/26629001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036992
property_value: exactMatch NCIT:C99059
property_value: exactMatch Orphanet:104008
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome xsd:anyURI {source="GARD:0001502"}

[Term]
id: MONDO:0015184
name: obsolete rare disease involving intestinal motility
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:104009"}
synonym: "rare genetic intestinal motility disease" EXACT [MONDO:DesignPattern]
xref: Orphanet:104009 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226620 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226620
property_value: exactMatch Orphanet:104009
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021189

[Term]
id: MONDO:0015185
name: intestinal polyposis syndrome
subset: ordo_group_of_disorders {source="Orphanet:104010"}
xref: MedDRA:10057018 {source="ORDO:104010/e", source="Orphanet:104010"}
xref: Orphanet:104010 {source="MONDO:equivalentTo"}
xref: SCTID:254589009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0345891 {source="MONDO:equivalentTo", source="ORDO:104010/e", source="Orphanet:104010"}
xref: UMLS:CN197525 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018538 {source="Orphanet:104010"} ! inherited digestive cancer-predisposing syndrome
property_value: exactMatch http://identifiers.org/meddra/10057018
property_value: exactMatch http://identifiers.org/snomedct/254589009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197525
property_value: exactMatch Orphanet:104010

[Term]
id: MONDO:0015186
name: obsolete rare tumor of intestine
def: "Rare intestinal neoplasm." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:104011"}
synonym: "rare intestinal neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare intestinal tumor" EXACT [Orphanet:104011]
synonym: "rare tumor of bowel" EXACT [Orphanet:104011]
xref: Orphanet:104011 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:104011
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021118
consider: UMLS:C0021841 {source="Orphanet:104011"}

[Term]
id: MONDO:0015187
name: obsolete rare inflammatory bowel disease
def: "Rare inflammatory bowel disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:104012"}
synonym: "rare inflammatory bowel disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:104012 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:104012
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005265
consider: UMLS:C0021390 {source="MONDO:subClassOf", source="Orphanet:104012"}

[Term]
id: MONDO:0015188
name: metabolic disease with intestinal involvement
def: "A metabolic disease that involves the intestine." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:104013"}
synonym: "intestine metabolic disease" EXACT [MONDO:patterns/location]
synonym: "metabolic disease of intestine" EXACT [MONDO:design_pattern]
xref: Orphanet:104013 {source="MONDO:equivalentTo"}
xref: UMLS:CN197528 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:104013"} ! intestinal disease
is_a: MONDO:0005066 ! metabolic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197528
property_value: exactMatch Orphanet:104013

[Term]
id: MONDO:0015189
name: obsolete adenocarcinoma of small instestine
def: "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888]
is_obsolete: true
replaced_by: MONDO:0003198

[Term]
id: MONDO:0015190
name: obsolete leiomyosarcoma of small intestine
is_obsolete: true
replaced_by: MONDO:0003360

[Term]
id: MONDO:0015191
name: myopathic intestinal pseudoobstruction
subset: ordo_etiological_subtype {source="Orphanet:104077"}
xref: ICD10:K59.8 {source="Orphanet:104077", source="ORDO:104077/attributed", source="ORDO:104077/ntbt"}
xref: Orphanet:104077 {source="MONDO:equivalentTo"}
is_a: MONDO:0017574 {source="Orphanet:104077"} ! chronic intestinal pseudoobstruction
property_value: exactMatch Orphanet:104077

[Term]
id: MONDO:0015192
name: unclassified intestinal pseudoobstruction
subset: ordo_etiological_subtype {source="Orphanet:104078"}
xref: ICD10:K59.8 {source="ORDO:104078/attributed", source="ORDO:104078/ntbt", source="Orphanet:104078"}
xref: Orphanet:104078 {source="MONDO:equivalentTo"}
xref: UMLS:CN197532 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017574 {source="Orphanet:104078"} ! chronic intestinal pseudoobstruction
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197532
property_value: exactMatch Orphanet:104078

[Term]
id: MONDO:0015193
name: hydrops fetalis (disease)
def: "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF) (see these terms), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility)." [Orphanet:1041]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1041"}
synonym: "familial non-immune hydrops fetalis" RELATED [GARD:0002783]
synonym: "fetal anasarca" EXACT [Orphanet:1041]
synonym: "fetal edema" RELATED [GARD:0002301]
synonym: "fetal hydrops" EXACT [Orphanet:1041]
synonym: "generalized fetal edema" EXACT [Orphanet:1041]
synonym: "HF" EXACT [Orphanet:1041]
synonym: "hydrops fetalis" EXACT [MONDO:ambiguous]
synonym: "hydrops fetalis nonimmune" RELATED [GARD:0002783]
synonym: "idiopathic hydrops fetalis" RELATED [GARD:0002783]
xref: GARD:0002301 {source="MONDO:equivalentTo"}
xref: GARD:0002783 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0001789 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:P56.0 {source="ORDO:1041/btnt", source="Orphanet:1041"}
xref: ICD10:P56.9 {source="ORDO:1041/btnt", source="Orphanet:1041"}
xref: ICD10:P83.2 {source="ORDO:1041/btnt", source="Orphanet:1041"}
xref: MedDRA:10020529 {source="ORDO:1041/e", source="Orphanet:1041"}
xref: NCIT:C84767 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:1041 {source="MONDO:equivalentTo"}
xref: SCTID:276508000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0020305 {source="GARD:0002301", source="NCIT:C84767", source="MONDO:equivalentTo", source="ORDO:1041/e", source="Orphanet:1041"}
is_a: MONDO:0019755 {source="Orphanet:1041"} ! developmental defect during embryogenesis
property_value: exactMatch http://identifiers.org/meddra/10020529
property_value: exactMatch http://identifiers.org/mesh/D015160
property_value: exactMatch http://identifiers.org/snomedct/276508000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020305
property_value: exactMatch NCIT:C84767
property_value: exactMatch Orphanet:1041

[Term]
id: MONDO:0015194
name: sideroblastic anemia
def: "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms)." [Orphanet:1047]
subset: ordo_group_of_disorders {source="Orphanet:1047"}
synonym: "anemia sideroblastic" EXACT [DOID:8955, MTH:NOCODE]
synonym: "anemia, hypochromic with iron loading" EXACT [DOID:8955, MTHICD9_2006:285.0]
synonym: "anemia, sideroblastic" EXACT [OMIMPS:300751]
synonym: "sideroblastic anemia" EXACT [MONDO:0004688]
xref: COHD:432282 {source="MONDO:equivalentTo"}
xref: DOID:8955 {source="MONDO:equivalentTo"}
xref: GARD:0000667 {source="MONDO:equivalentTo"}
xref: ICD10:D64.0 {source="Orphanet:1047", source="ORDO:1047/btnt"}
xref: ICD10:D64.1 {source="Orphanet:1047", source="ORDO:1047/btnt"}
xref: ICD10:D64.2 {source="Orphanet:1047", source="ORDO:1047/btnt"}
xref: ICD10:D64.3 {source="DOID:8955", source="Orphanet:1047", source="ORDO:1047/btnt"}
xref: ICD9:285.0 {source="DOID:8955", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10040661 {source="ORDO:1047/e", source="Orphanet:1047"}
xref: MESH:D000756 {source="ORDO:1047/e", source="DOID:8955", source="Orphanet:1047", source="MONDO:equivalentTo"}
xref: NCIT:C36078 {source="DOID:8955", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:300751 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1047 {source="MONDO:equivalentTo"}
xref: SCTID:41841004 {source="DOID:8955", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002896 {source="ORDO:1047/e", source="DOID:8955", source="NCIT:C36078", source="Orphanet:1047", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="DOID:8955/inferred", source="MESH:D000756", source="MONDO:Redundant", source="NCIT:C36078", source="linkedlifedata"} ! anemia (disease)
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:8955"} ! idiopathic aplastic anemia
property_value: closeMatch http://identifiers.org/snomedct/154810008
property_value: closeMatch http://identifiers.org/snomedct/191263002
property_value: exactMatch DOID:8955
property_value: exactMatch http://identifiers.org/meddra/10040661
property_value: exactMatch http://identifiers.org/mesh/D000756
property_value: exactMatch http://identifiers.org/snomedct/41841004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002896
property_value: exactMatch NCIT:C36078
property_value: exactMatch Orphanet:1047

[Term]
id: MONDO:0015195
name: atresia of urethra (disease)
def: "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." [Orphanet:105]
subset: ordo_morphological_anomaly {source="Orphanet:105"}
synonym: "atresia of urethra" EXACT [MONDO:ambiguous]
synonym: "urethral atresia" EXACT [Orphanet:105]
xref: HP:0000068 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.3 {source="MONDO:relatedTo", source="Orphanet:105", source="ORDO:105/specific", source="ORDO:105/e"}
xref: MedDRA:10064895 {source="Orphanet:105", source="ORDO:105/e"}
xref: Orphanet:105 {source="MONDO:equivalentTo"}
xref: SCTID:253902002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018559 {source="Orphanet:105"} ! fetal lower urinary tract obstruction
property_value: exactMatch http://identifiers.org/meddra/10064895
property_value: exactMatch http://identifiers.org/snomedct/253902002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1610065
property_value: exactMatch Orphanet:105

[Term]
id: MONDO:0015196
name: vein of Galen aneurysm
def: "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus , unusually prominent veins on the face and scalp, developmental delay , persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization ." [https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm]
subset: gard_rare {source="GARD:0005467"}
subset: ordo_morphological_anomaly {source="Orphanet:1053"}
synonym: "ectasia or varix of the vein of Galen" RELATED [GARD:0005467]
synonym: "Galen vein aneurysm" RELATED [GARD:0005467]
synonym: "Galenic arteriovenous malformation" RELATED [GARD:0005467]
synonym: "vein of Galen aneurysm malformation" RELATED [GARD:0005467]
synonym: "vein of Galen arteriovenous malformations" EXACT [Orphanet:1053]
synonym: "VGAM" RELATED [GARD:0005467]
xref: GARD:0005467 {source="MONDO:equivalentTo"}
xref: ICD10:Q28.2 {source="ORDO:1053/ntbt", source="Orphanet:1053"}
xref: MESH:C536535 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1053", source="ORDO:1053/e"}
xref: Orphanet:1053 {source="MONDO:equivalentTo"}
xref: SCTID:253194008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C0431420 {source="MONDO:equivalentTo", source="Orphanet:1053", source="ORDO:1053/e"}
is_a: MONDO:0001256 {source="Orphanet:1053"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0003948 ! cerebral hemangioma
is_a: MONDO:0004634 ! vein disease
is_a: MONDO:0015145 {source="Orphanet:1053"} ! neurovascular malformation
property_value: exactMatch http://identifiers.org/mesh/C536535
property_value: exactMatch http://identifiers.org/snomedct/253194008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431420
property_value: exactMatch Orphanet:1053
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm xsd:anyURI {source="GARD:0005467"}

[Term]
id: MONDO:0015197
name: aneurysm of sinus of Valsalva
def: "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." [Orphanet:1054]
subset: gard_rare {source="GARD:0000670"}
subset: ordo_morphological_anomaly {source="Orphanet:1054"}
synonym: "sinus of Valsalva aneurysm" RELATED [GARD:0000670]
synonym: "SVA" RELATED [GARD:0000670]
xref: GARD:0000670 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.4 {source="Orphanet:1054", source="ORDO:1054/ntbt"}
xref: ICD9:747.29 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1054 {source="MONDO:equivalentTo"}
xref: SCTID:54160000 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:CN197542 {source="MONDO:equivalentTo"}
is_a: MONDO:0000651 ! thoracic disease
is_a: MONDO:0005561 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! aortic disease
is_a: MONDO:0020293 {source="Orphanet:1054"} ! ascending aorta anomaly
property_value: exactMatch http://identifiers.org/snomedct/54160000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197542
property_value: exactMatch Orphanet:1054
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva xsd:anyURI {source="GARD:0000670"}

[Term]
id: MONDO:0015198
name: aniridia-ptosis-intellectual disability-familial obesity syndrome
def: "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." [Orphanet:1067]
subset: ordo_malformation_syndrome {source="Orphanet:1067"}
synonym: "aniridia - ptosis - intellectual disability - familial obesity" RELATED [GARD:0000689]
xref: GARD:0000689 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:1067 {source="MONDO:equivalentTo"}
xref: SCTID:720987001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:CN226622 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:1067"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020148 {source="Orphanet:1067"} ! syndromic aniridia
property_value: exactMatch http://identifiers.org/snomedct/720987001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226622
property_value: exactMatch Orphanet:1067

[Term]
id: MONDO:0015199
name: aniridia - intellectual disability syndrome
def: "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974." [Orphanet:1068]
subset: ordo_malformation_syndrome {source="Orphanet:1068"}
synonym: "aniridia associated with mental retardation and other eye abnormalities" RELATED [GARD:0005530]
synonym: "Walker Dyson syndrome" RELATED [GARD:0005530]
synonym: "Walker-Dyson syndrome" EXACT [Orphanet:1068]
xref: GARD:0005530 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536568 {source="Orphanet:1068", source="ORDO:1068/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1068 {source="MONDO:equivalentTo"}
xref: UMLS:C2931243 {source="Orphanet:1068", source="ORDO:1068/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:1068"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020148 {source="Orphanet:1068"} ! syndromic aniridia
property_value: exactMatch http://identifiers.org/mesh/C536568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931243
property_value: exactMatch Orphanet:1068

[Term]
id: MONDO:0015200
name: anisakiasis
def: "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." [MESH:D017129]
subset: gard_rare {source="GARD:0000693"}
subset: ordo_disease {source="Orphanet:1070"}
synonym: "Anisakiases" RELATED [MESH:D017129]
synonym: "Anisakis infection" RELATED [GARD:0000693]
synonym: "Anisakis simplex infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infection by Anisakis larva" EXACT [DOID:7033, MTHICD9_2006:127.1]
synonym: "infections, Anisakis simplex" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pseudoterranova infection" RELATED [GARD:0000693]
xref: DOID:7033 {source="MONDO:equivalentTo", source="EFO:0007146"}
xref: EFO:0007146 {source="MONDO:equivalentTo"}
xref: GARD:0000693 {source="MONDO:equivalentTo"}
xref: ICD10:B81.0 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033"}
xref: ICD9:127.1 {source="DOID:7033"}
xref: MedDRA:10002533 {source="ORDO:1070/e", source="Orphanet:1070"}
xref: MESH:D017129 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="MONDO:ontobio", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"}
xref: NCIT:C128393 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:1070 {source="MONDO:equivalentTo"}
xref: SCTID:442652006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0162576 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033"}
is_a: MONDO:0005656 ! Ascaridida infectious disease
is_a: MONDO:0024271 ! intestinal helminthiasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187173002
property_value: closeMatch http://identifiers.org/snomedct/32183007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2711266
property_value: exactMatch DOID:7033
property_value: exactMatch http://identifiers.org/meddra/10002533
property_value: exactMatch http://identifiers.org/mesh/D017129
property_value: exactMatch http://identifiers.org/snomedct/442652006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2711591
property_value: exactMatch NCIT:C128393
property_value: exactMatch Orphanet:1070
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/693/anisakiasis xsd:anyURI {source="GARD:0000693"}

[Term]
id: MONDO:0015201
name: ankyloblepharon filiforme-imperforate anus syndrome
def: "Ankyloblepharon filiforme adnatum-imperforate anus syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." [Orphanet:1074]
subset: ordo_malformation_syndrome {source="Orphanet:1074"}
synonym: "ankyloblepharon filiforme adnatum-imperforate anus syndrome" RELATED [Orphanet:1074]
synonym: "Aughton-Hufnagle syndrome" EXACT [Orphanet:1074]
xref: ICD10:Q87.8 {source="ORDO:1074/attributed", source="ORDO:1074/ntbt", source="Orphanet:1074"}
xref: Orphanet:1074 {source="MONDO:equivalentTo"}
xref: UMLS:CN197555 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015218 {source="Orphanet:1074"} ! syndromic developmental defect of the eye
is_a: MONDO:0015246 {source="Orphanet:1074"} ! syndromic anorectal malformation
is_a: MONDO:0015501 {source="Orphanet:1074"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0020156 {source="Orphanet:1074"} ! syndromic ankyloblepharon
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197555
property_value: exactMatch Orphanet:1074

[Term]
id: MONDO:0015202
name: obsolete babesiosis
is_obsolete: true
replaced_by: MONDO:0005661

[Term]
id: MONDO:0015203
name: coronary artery congenital malformation
subset: ordo_group_of_disorders {source="Orphanet:1081"}
xref: ICD10:Q24.5 {source="ORDO:1081/e", source="Orphanet:1081"}
xref: MedDRA:10061060 {source="ORDO:1081/e", source="Orphanet:1081"}
xref: Orphanet:1081 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:1081"} ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158623
property_value: exactMatch http://identifiers.org/meddra/10061060
property_value: exactMatch Orphanet:1081

[Term]
id: MONDO:0015204
name: microlissencephaly
def: "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." [Orphanet:1083]
subset: ordo_morphological_anomaly {source="Orphanet:1083"}
xref: ICD10:Q04.3 {source="ORDO:1083/ntbt", source="ORDO:1083/inclusion", source="Orphanet:1083"}
xref: Orphanet:1083 {source="MONDO:equivalentTo"}
xref: UMLS:C1956147 {source="MONDO:equivalentTo", source="Orphanet:1083"}
is_a: MONDO:0018838 {source="Orphanet:1083"} ! lissencephaly spectrum disorders
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956147
property_value: exactMatch Orphanet:1083

[Term]
id: MONDO:0015205
name: isolated lissencephaly type 1 without known genetic defects
def: "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." [Orphanet:1084]
subset: ordo_disease {source="Orphanet:1084"}
xref: ICD10:Q04.3 {source="Orphanet:1084", source="ORDO:1084/attributed", source="ORDO:1084/ntbt"}
xref: Orphanet:1084 {source="MONDO:equivalentTo"}
xref: SCTID:715406003 {source="MONDO:equivalentTo"}
xref: UMLS:C4275151 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN226623 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015146 {source="MONDOLEX:0015205", source="Orphanet:1084"} ! classic lissencephaly
property_value: exactMatch http://identifiers.org/snomedct/715406003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226623
property_value: exactMatch Orphanet:1084

[Term]
id: MONDO:0015206
name: short stature-heart defect-craniofacial anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1088"}
synonym: "Rommen Mueller Sybert syndrome" RELATED [GARD:0004739]
synonym: "Rommen-Mueller-Sybert syndrome" EXACT [Orphanet:1088]
synonym: "short stature heart defect and craniofacial anomalies" RELATED [GARD:0004739]
xref: GARD:0004739 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:1088", source="ORDO:1088/attributed", source="ORDO:1088/ntbt"}
xref: MESH:C535871 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1088 {source="MONDO:equivalentTo"}
xref: UMLS:C2931050 {source="Orphanet:1088", source="MONDO:equivalentTo"}
is_a: MONDO:0015160 {source="Orphanet:1088"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931050
property_value: exactMatch Orphanet:1088

[Term]
id: MONDO:0015207
name: non-syndromic esophageal malformation
def: "A esophageal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108959"}
synonym: "isolated esophageal malformation" EXACT []
synonym: "isolated esophageal malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic esophageal malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108959 {source="MONDO:equivalentTo"}
is_a: MONDO:0019513 {source="MONDO:Redundant", source="Orphanet:108959"} ! esophageal malformation
intersection_of: MONDO:0019513 ! esophageal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108959

[Term]
id: MONDO:0015208
name: syndromic esophageal malformation
def: "A esophageal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108961"}
synonym: "syndrome associated with esophageal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with esophageal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic esophageal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108961 {source="MONDO:equivalentTo"}
xref: UMLS:CN226625 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019513 {source="MONDO:Redundant", source="Orphanet:108961"} ! esophageal malformation
intersection_of: MONDO:0019513 ! esophageal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226625
property_value: exactMatch Orphanet:108961

[Term]
id: MONDO:0015209
name: non-syndromic gastroduodenal malformation
def: "A gastroduodenal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108963"}
synonym: "isolated gastroduodenal malformation" EXACT []
synonym: "isolated gastroduodenal malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic gastroduodenal malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108963 {source="MONDO:equivalentTo"}
is_a: MONDO:0019998 {source="MONDO:Redundant", source="Orphanet:108963"} ! gastroduodenal malformation
intersection_of: MONDO:0019998 ! gastroduodenal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108963

[Term]
id: MONDO:0015210
name: syndromic gastroduodenal malformation
def: "A gastroduodenal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108965"}
synonym: "syndrome associated with gastroduodenal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with gastroduodenal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic gastroduodenal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108965 {source="MONDO:equivalentTo"}
xref: UMLS:CN226627 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019998 {source="MONDO:Redundant", source="Orphanet:108965"} ! gastroduodenal malformation
intersection_of: MONDO:0019998 ! gastroduodenal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226627
property_value: exactMatch Orphanet:108965

[Term]
id: MONDO:0015211
name: non-syndromic intestinal malformation
def: "A intestinal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108967"}
synonym: "isolated intestinal malformation" EXACT []
synonym: "isolated intestinal malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic intestinal malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108967 {source="MONDO:equivalentTo"}
is_a: MONDO:0019999 {source="MONDO:Redundant", source="Orphanet:108967"} ! intestinal malformation
intersection_of: MONDO:0019999 ! intestinal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108967

[Term]
id: MONDO:0015212
name: syndromic intestinal malformation
def: "A intestinal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108969"}
synonym: "syndrome associated with intestinal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with intestinal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic intestinal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108969 {source="MONDO:equivalentTo"}
xref: UMLS:CN226629 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019999 {source="MONDO:Redundant", source="Orphanet:108969"} ! intestinal malformation
intersection_of: MONDO:0019999 ! intestinal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226629
property_value: exactMatch Orphanet:108969

[Term]
id: MONDO:0015213
name: non-syndromic visceral malformation
subset: ordo_group_of_disorders {source="Orphanet:108971"}
synonym: "isolated visceral malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic visceral malformation" EXACT [MONDO:DesignPattern]
xref: Orphanet:108971 {source="MONDO:equivalentTo"}
is_a: MONDO:0020020 {source="Orphanet:108971"} ! visceral malformation of the liver, biliary tract, pancreas or spleen
property_value: exactMatch Orphanet:108971

[Term]
id: MONDO:0015214
name: syndromic visceral malformation
subset: ordo_group_of_disorders {source="Orphanet:108973"}
xref: Orphanet:108973 {source="MONDO:equivalentTo"}
xref: UMLS:CN226631 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020020 {source="Orphanet:108973"} ! visceral malformation of the liver, biliary tract, pancreas or spleen
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226631
property_value: exactMatch Orphanet:108973

[Term]
id: MONDO:0015215
name: non-syndromic diaphragmatic or abdominal wall malformation
def: "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108977"}
synonym: "isolated diaphragmatic or abdominal wall malformation" EXACT []
synonym: "isolated diaphragmatic or abdominal wall malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic diaphragmatic or abdominal wall malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108977 {source="MONDO:equivalentTo"}
is_a: MONDO:0020021 {source="MONDO:Redundant", source="Orphanet:108977"} ! diaphragmatic or abdominal wall malformation
intersection_of: MONDO:0020021 ! diaphragmatic or abdominal wall malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108977

[Term]
id: MONDO:0015216
name: syndromic diaphragmatic or abdominal wall malformation
def: "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108979"}
synonym: "syndrome associated with diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with diaphragmatic or abdominal wall malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108979 {source="MONDO:equivalentTo"}
xref: UMLS:CN226633 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020021 {source="MONDO:Redundant", source="Orphanet:108979"} ! diaphragmatic or abdominal wall malformation
intersection_of: MONDO:0020021 ! diaphragmatic or abdominal wall malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226633
property_value: exactMatch Orphanet:108979

[Term]
id: MONDO:0015217
name: non-syndromic developmental defect of the eye
def: "A developmental defect of the eye that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108985"}
synonym: "isolated developmental defect of the eye" EXACT []
synonym: "isolated developmental defect of the eye" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic developmental defect of the eye" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108985 {source="MONDO:equivalentTo"}
is_a: MONDO:0020145 {source="MONDO:Redundant", source="Orphanet:108985"} ! developmental defect of the eye
intersection_of: MONDO:0020145 ! developmental defect of the eye
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108985

[Term]
id: MONDO:0015218
name: syndromic developmental defect of the eye
def: "A developmental defect of the eye that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108987"}
synonym: "syndrome associated with developmental defect of the eye" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with developmental defect of the eye" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic developmental defect of the eye" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108987 {source="MONDO:equivalentTo"}
xref: UMLS:CN226635 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020145 {source="MONDO:Redundant", source="Orphanet:108987"} ! developmental defect of the eye
intersection_of: MONDO:0020145 ! developmental defect of the eye
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226635
property_value: exactMatch Orphanet:108987

[Term]
id: MONDO:0015219
name: non-syndromic central nervous system malformation
def: "A central nervous system malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
comment: Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58
subset: ordo_group_of_disorders {source="Orphanet:108989"}
synonym: "isolated central nervous system malformation" EXACT []
synonym: "isolated central nervous system malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic central nervous system malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108989 {source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="MONDO:Redundant", source="Orphanet:108989"} ! central nervous system malformation
intersection_of: MONDO:0020022 ! central nervous system malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:108989

[Term]
id: MONDO:0015220
name: syndrome with a central nervous system malformation as major feature
subset: ordo_group_of_disorders {source="Orphanet:108991"}
xref: Orphanet:108991 {source="MONDO:equivalentTo"}
xref: UMLS:CN197562 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="Orphanet:108991"} ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 {source="MONDO:cjm"} ! central nervous system malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197562
property_value: exactMatch Orphanet:108991

[Term]
id: MONDO:0015221
name: non-syndromic respiratory or mediastinal malformation
def: "A respiratory or mediastinal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108993"}
synonym: "isolated respiratory or mediastinal malformation" EXACT []
synonym: "isolated respiratory or mediastinal malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic respiratory or mediastinal malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:108993 {source="MONDO:equivalentTo"}
is_a: MONDO:0020023 {source="MONDO:Redundant", source="Orphanet:108993"} ! respiratory or mediastinal malformation
intersection_of: MONDO:0020023 ! respiratory or mediastinal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020002"} ! rare
property_value: exactMatch Orphanet:108993

[Term]
id: MONDO:0015222
name: syndromic respiratory or mediastinal malformation
def: "A respiratory or mediastinal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108995"}
synonym: "syndrome associated with respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with respiratory or mediastinal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:108995 {source="MONDO:equivalentTo"}
xref: UMLS:CN226638 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020023 {source="MONDO:Redundant", source="Orphanet:108995"} ! respiratory or mediastinal malformation
intersection_of: MONDO:0020023 ! respiratory or mediastinal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
relationship: has_modifier MONDO:0021136 {source="MONDO:0020002"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226638
property_value: exactMatch Orphanet:108995

[Term]
id: MONDO:0015223
name: obsolete rare anemia
def: "Rare anemia." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:108997"}
synonym: "rare anemia" EXACT []
synonym: "rare anemia (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:108997 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:108997
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002280
consider: UMLS:C0002871 {source="Orphanet:108997"}

[Term]
id: MONDO:0015224
name: obsolete rare intoxication
def: "Any of the forms of poisoning that have a rare incidence." [MONDO:patterns/rare]
comment: Editor note: consider obsoleting
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:108999"}
synonym: "rare poisoning" EXACT [MONDO:patterns/rare]
xref: Orphanet:108999 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226640 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226640
property_value: exactMatch Orphanet:108999
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0029000

[Term]
id: MONDO:0015225
name: arthrogryposis syndrome
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:109007"}
xref: ICD10:Q68.8 {source="ORDO:109007/attributed", source="ORDO:109007/ntbt", source="Orphanet:109007"}
xref: Orphanet:109007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:109007"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D001176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003886
property_value: exactMatch Orphanet:109007

[Term]
id: MONDO:0015226
name: syndrome with limb malformations as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:109009"}
xref: ICD10:Q87.2 {source="Orphanet:109009", source="ORDO:109009/e"}
xref: Orphanet:109009 {source="MONDO:equivalentTo"}
xref: UMLS:CN197565 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019054 {source="Orphanet:109009"} ! congenital limb malformation
disjoint_from: MONDO:0015227 ! non-syndromic limb malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197565
property_value: exactMatch Orphanet:109009
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0015227
name: non-syndromic limb malformation
subset: ordo_group_of_disorders {source="Orphanet:109011"}
synonym: "isolated limb malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic limb malformation" EXACT [MONDO:DesignPattern]
xref: Orphanet:109011 {source="MONDO:equivalentTo"}
is_a: MONDO:0019054 {source="Orphanet:109011"} ! congenital limb malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch Orphanet:109011

[Term]
id: MONDO:0015228
name: pentasomy X
def: "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." [Orphanet:11]
subset: ordo_malformation_syndrome {source="Orphanet:11"}
synonym: "49, XXXXX syndrome" EXACT [NCIT:C89802]
synonym: "49,XXXXX syndrome" EXACT [Orphanet:11]
synonym: "chromosome X pentasomy" RELATED [GARD:0005678]
synonym: "chromosome XXXXX syndrome" RELATED [GARD:0005678]
synonym: "penta X syndrome" EXACT [NCIT:C89802]
synonym: "penta-X" EXACT [Orphanet:11]
synonym: "penta-X syndrome" RELATED [GARD:0005678]
synonym: "Pentasomy type X" EXACT [MONDORULE:1, Orphanet:11]
synonym: "Pentasomy X syndrome" RELATED [GARD:0005678]
synonym: "poly-X" EXACT [Orphanet:11]
synonym: "XXXXX syndrome" EXACT [NCIT:C89802]
xref: GARD:0005678 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q97.1 {source="Orphanet:11", source="ORDO:11/attributed", source="ORDO:11/ntbt"}
xref: MESH:C535319 {source="ORDO:11/e", source="Orphanet:11", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C89802 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: Orphanet:11 {source="MONDO:equivalentTo"}
xref: SCTID:43248007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265497 {source="ORDO:11/e", source="Orphanet:11", source="MONDO:equivalentTo", source="NCIT:C89802"}
is_a: MONDO:0002254 {source="MONDOLEX:0015228", source="NCIT:C89802"} ! syndromic disease
is_a: MONDO:0017002 {source="Orphanet:11"} ! polysomy of X chromosome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2937419
property_value: exactMatch http://identifiers.org/mesh/C535319
property_value: exactMatch http://identifiers.org/snomedct/43248007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265497
property_value: exactMatch NCIT:C89802
property_value: exactMatch Orphanet:11

[Term]
id: MONDO:0015229
name: Bardet-Biedl syndrome
def: "Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" [Orphanet:110, PMID:10874630]
subset: clingen
subset: ordo_disease {source="Orphanet:110"}
synonym: "BBS" EXACT [Orphanet:110]
synonym: "Laurence-Moon syndrome" EXACT EXCLUDE [NCIT:C118632]
synonym: "Laurence-Moon-Bardet-Biedl syndrome" EXACT EXCLUDE [NCIT:C118632]
synonym: "Laurence-Moon-Biedl syndrome" EXACT EXCLUDE [NCIT:C118632]
xref: DOID:1935 {source="MONDO:equivalentTo"}
xref: GARD:0006866 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:110/inclusion", source="ORDO:110/ntbt", source="Orphanet:110"}
xref: ICD10:Q87.89 {source="DOID:1935"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056715 {source="ORDO:110/e", source="Orphanet:110"}
xref: MESH:D020788 {source="MONDO:equivalentTo", source="ORDO:110/e", source="MONDO:ontobio", source="DOID:1935", source="Orphanet:110"}
xref: NCIT:C118632 {source="MONDO:kboom-pr-0.96/0.85/1.58", source="MONDO:equivalentTo", source="DOID:1935"}
xref: OMIMPS:209900 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: Orphanet:110 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: SCTID:5619004 {source="MONDO:equivalentTo", source="DOID:1935", source="MONDO:kboom-pr-0.95/0.83/1.43"}
xref: UMLS:C0752166 {source="NCIT:C118632", source="MONDO:equivalentTo", source="ORDO:110/e", source="DOID:1935", source="Orphanet:110"}
is_a: MONDO:0006025 {source="DOID:1935", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015218 {source="Orphanet:110"} ! syndromic developmental defect of the eye
is_a: MONDO:0015890 {source="Orphanet:110"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0016565 {source="Orphanet:110"} ! syndromic genetic obesity
is_a: MONDO:0018398 {source="Orphanet:110"} ! female infertility due to a congenital hypogonadotropic hypogonadism
is_a: MONDO:0019741 {source="Orphanet:110"} ! familial cystic renal disease
is_a: MONDO:0020240 {source="Orphanet:110"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020244 {source="Orphanet:110"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0021189 {source="Orphanet:110"} ! intestinal motility disease
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0022410 ! retinal ciliopathy
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:110"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:1935
property_value: exactMatch http://identifiers.org/meddra/10056715
property_value: exactMatch http://identifiers.org/mesh/D020788
property_value: exactMatch http://identifiers.org/snomedct/5619004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752166
property_value: exactMatch NCIT:C118632
property_value: exactMatch Orphanet:110

[Term]
id: MONDO:0015230
name: anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
def: "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." [Orphanet:1101]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1101"}
synonym: "anophthalmia megalocornea cardiopathy skeletal anomalies" EXACT [MONDO:0022463]
synonym: "Cassia Stocco dos Santos syndrome" EXACT [Orphanet:1101]
xref: GARD:0000717 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1101", source="ORDO:1101/attributed", source="ORDO:1101/ntbt"}
xref: Orphanet:1101 {source="MONDO:equivalentTo"}
xref: SCTID:720495005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.79"}
xref: UMLS:CN197570 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0043008 {source="Orphanet:1101"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/720495005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197570
property_value: exactMatch Orphanet:1101
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies xsd:anyURI {source="GARD:0000717"}

[Term]
id: MONDO:0015231
name: Bartter syndrome
def: "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:112]
subset: gard_rare {source="GARD:0005893"}
subset: ordo_disease {source="Orphanet:112"}
synonym: "aldosteronism with hyperplasia of the adrenal cortex" EXACT [DOID:445]
synonym: "Bartter disease" EXACT [MONDO:0003006]
synonym: "Bartter's syndrome" EXACT [DOID:445, GARD:0005893, ICD9CM_2006:255.13]
synonym: "hypokalemic alkalosis" EXACT [NCIT:C34412]
synonym: "hypokalemic alkalosis with hypercalciuria" RELATED [GARD:0005893]
synonym: "Potassium wasting" RELATED [GARD:0005893]
synonym: "renal tubular normotensive hypokalemic alkalosis with hypercalciuria" EXACT [Orphanet:112]
synonym: "salt-losing tubular disorder, Henle's loop type" EXACT [Orphanet:112]
synonym: "salt-wasting tubulopathy, Henle's loop type" EXACT [Orphanet:112]
xref: COHD:45769152 {source="MONDO:equivalentTo"}
xref: DOID:445 {source="MONDO:equivalentTo"}
xref: GARD:0005893 {source="MONDO:equivalentTo"}
xref: ICD10:E26.8 {source="ORDO:112/ntbt", source="ORDO:112/inclusion", source="Orphanet:112"}
xref: ICD10:E26.81 {source="DOID:445"}
xref: ICD9:255.13 {source="DOID:445", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10050839 {source="ORDO:112/e", source="Orphanet:112"}
xref: MESH:D001477 {source="DOID:445", source="MONDO:equivalentTo", source="ORDO:112/e", source="Orphanet:112"}
xref: NCIT:C34412 {source="DOID:445", source="MONDO:kboom-pr-1.00/0.91/25.88", source="MONDO:equivalentTo"}
xref: OMIMPS:601678 {source="DOID:445", source="MONDO:equivalentTo"}
xref: Orphanet:112 {source="MONDO:equivalentTo", source="GARD:0005893"}
xref: SCTID:707742001 {source="DOID:445", source="MONDO:kboom-pr-1.00/0.80/9.04", source="MONDO:equivalentTo"}
xref: UMLS:C0004775 {source="DOID:445", source="MONDO:equivalentTo", source="ORDO:112/e", source="NCIT:C34412", source="GARD:0005893", source="Orphanet:112"}
xref: UMLS:C0085570 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0015231", source="NCIT:C34412"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:445", source="MESH:D001477"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:112"} ! inherited renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/190506003
property_value: closeMatch http://identifiers.org/snomedct/71275003
property_value: exactMatch DOID:445
property_value: exactMatch http://identifiers.org/meddra/10050839
property_value: exactMatch http://identifiers.org/mesh/D001477
property_value: exactMatch http://identifiers.org/snomedct/707742001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085570
property_value: exactMatch NCIT:C34412
property_value: exactMatch Orphanet:112
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome xsd:anyURI {source="GARD:0005893"}

[Term]
id: MONDO:0015232
name: radial deficiency-tibial hypoplasia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1121"}
xref: ICD10:Q73.8 {source="Orphanet:1121", source="ORDO:1121/attributed", source="ORDO:1121/ntbt"}
xref: Orphanet:1121 {source="MONDO:equivalentTo"}
xref: UMLS:CN226642 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017433 {source="Orphanet:1121"} ! dysostosis with combined reduction defects of upper and lower limbs
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226642
property_value: exactMatch Orphanet:1121

[Term]
id: MONDO:0015233
name: caudal appendage-deafness syndrome
def: "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." [Orphanet:1123]
subset: ordo_malformation_syndrome {source="Orphanet:1123"}
synonym: "caudal appendage deafness" RELATED [GARD:0001163]
synonym: "caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation" RELATED [GARD:0001163]
synonym: "Lynch Lee Murday syndrome" RELATED [GARD:0001163]
synonym: "Lynch-Lee-Murday syndrome" EXACT [Orphanet:1123]
xref: GARD:0001163 {source="MONDO:equivalentTo"}
xref: MESH:C537713 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1123 {source="MONDO:equivalentTo", source="GARD:0001163"}
xref: SCTID:726621009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931593 {source="Orphanet:1123", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1123", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1123"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:1123"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537713
property_value: exactMatch http://identifiers.org/snomedct/726621009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931593
property_value: exactMatch Orphanet:1123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness xsd:anyURI {source="GARD:0001163"}

[Term]
id: MONDO:0015234
name: arachnodactyly-abnormal ossification-intellectual disability syndrome
def: "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." [Orphanet:1129]
subset: ordo_malformation_syndrome {source="Orphanet:1129"}
synonym: "arachnodactyly, abnormal ossification and mental retardation" RELATED [GARD:0000381]
synonym: "Kosztolanyi syndrome" EXACT [Orphanet:1129]
xref: GARD:0000381 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1129/attributed", source="ORDO:1129/ntbt", source="Orphanet:1129"}
xref: MESH:C537024 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1129 {source="MONDO:equivalentTo"}
xref: SCTID:720501007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
xref: UMLS:C2931398 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:1129"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1129", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1129"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537024
property_value: exactMatch http://identifiers.org/snomedct/720501007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931398
property_value: exactMatch Orphanet:1129

[Term]
id: MONDO:0015235
name: arachnodactyly-intellectual disability-dysmorphism syndrome
def: "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." [Orphanet:1130]
subset: ordo_malformation_syndrome {source="Orphanet:1130"}
synonym: "arachnodactyly - intellectual disability - dysmorphism" RELATED [GARD:0000764]
synonym: "De Die-Smulders-Vles-Fryns syndrome" EXACT [Orphanet:1130]
xref: GARD:0000764 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1130/attributed", source="ORDO:1130/ntbt", source="Orphanet:1130"}
xref: Orphanet:1130 {source="MONDO:equivalentTo"}
xref: SCTID:720502000 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:CN197590 {source="MONDO:equivalentTo"}
is_a: MONDO:0043007 {source="Orphanet:1130"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/snomedct/720502000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197590
property_value: exactMatch Orphanet:1130

[Term]
id: MONDO:0015236
name: aortic arch defects
def: "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren." [https://www.orpha.net/data/patho/GB/uk-aortic-arch.pdf]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:1132"}
xref: GARD:0000741 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.4 {source="Orphanet:1132", source="ORDO:1132/ntbt"}
xref: Orphanet:1132 {source="MONDO:equivalentTo"}
is_a: MONDO:0015222 {source="Orphanet:1132"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:1132"} ! respiratory malformation
is_a: MONDO:0020292 {source="Orphanet:1132"} ! congenital anomaly of the great arteries
is_a: MONDO:0022606 ! branchial arch disease
property_value: exactMatch Orphanet:1132
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect xsd:string {source="GARD:0000741"}

[Term]
id: MONDO:0015237
name: arrhinia
def: "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." [Orphanet:1134]
subset: gard_rare {source="GARD:0000364"}
subset: ordo_malformation_syndrome {source="Orphanet:1134"}
synonym: "congenital absence of the nose" RELATED [GARD:0000364]
synonym: "isolated arrhinia" RELATED [Orphanet:1134]
synonym: "isolated nose agenesis" EXACT [Orphanet:1134]
synonym: "Nose agenesia" RELATED [GARD:0000364]
synonym: "Nose agenesis" EXACT [Orphanet:1134]
xref: GARD:0000364 {source="MONDO:equivalentTo"}
xref: ICD10:Q30.1 {source="Orphanet:1134", source="ORDO:1134/ntbt"}
xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537438 {source="Orphanet:1134", source="ORDO:1134/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1134 {source="MONDO:equivalentTo"}
xref: SCTID:111317000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.57"}
is_a: MONDO:0015503 {source="Orphanet:1134"} ! nose and cavum anomaly
property_value: exactMatch http://identifiers.org/mesh/C537438
property_value: exactMatch http://identifiers.org/snomedct/111317000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265740
property_value: exactMatch Orphanet:1134
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/364/arrhinia xsd:anyURI {source="GARD:0000364"}

[Term]
id: MONDO:0015238
name: arrhinia-choanal atresia-microphthalmia syndrome
def: "Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate." [Orphanet:1135]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1135"}
synonym: "arhinia choanal atresia microphthalmia" RELATED [GARD:0008755]
synonym: "Bosma arhinia microphthalmia syndrome" RELATED [GARD:0008755]
synonym: "Bosma Henkin Christiansen syndrome" RELATED [GARD:0008755]
synonym: "congenital absence of nose and anterior nasopharynx" RELATED [GARD:0008755]
xref: GARD:0008755 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:1135", source="ORDO:1135/attributed", source="ORDO:1135/ntbt"}
xref: Orphanet:1135 {source="GARD:0008755", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:1135"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:1135", source="Orphanet:1135/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0043008 {source="Orphanet:1135"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863878
property_value: exactMatch Orphanet:1135
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia xsd:anyURI {source="GARD:0008755"}

[Term]
id: MONDO:0015239
name: abnormal origin of the pulmonary artery
subset: ordo_group_of_disorders {source="Orphanet:1138"}
xref: ICD10:Q25.7 {source="ORDO:1138/ntbt", source="Orphanet:1138"}
xref: Orphanet:1138 {source="MONDO:equivalentTo"}
xref: SCTID:68092007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
is_a: MONDO:0016581 {source="Orphanet:1138"} ! conotruncal heart malformations
property_value: exactMatch http://identifiers.org/snomedct/68092007
property_value: exactMatch Orphanet:1138

[Term]
id: MONDO:0015240
name: digitotalar dysmorphism
def: "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term)." [Orphanet:1146]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1146"}
synonym: "AMCD1" RELATED [GARD:0000787]
synonym: "arthrogryposis multiplex congenita distal type 1" EXACT [GARD:0000787]
synonym: "DA1" EXACT [Orphanet:1146]
synonym: "digitotalar dysmorphism" EXACT [GARD:0000787]
synonym: "distal arthrogryposis type 1" EXACT [Orphanet:1146]
synonym: "distal arthrogryposis type 1A (sub-type)" NARROW [GARD:0000787]
synonym: "distal arthrogryposis type 1B (sub-type)" NARROW [GARD:0000787]
xref: GARD:0000787 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="Orphanet:1146", source="ORDO:1146/attributed", source="ORDO:1146/ntbt"}
xref: Orphanet:1146 {source="GARD:0000787", source="MONDO:equivalentTo"}
xref: UMLS:C0220662 {source="MEDGEN:kboom-pr98-c99", source="ORDO:1146/e", source="Orphanet:1146", source="GARD:0000787", source="MONDO:equivalentTo"}
xref: UMLS:C1852085 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1146", source="MONDO:equivalentTo"}
xref: UMLS:CN197602 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019942 {source="Orphanet:1146"} ! distal arthrogryposis
is_a: MONDO:0043008 {source="Orphanet:1146"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197602
property_value: exactMatch Orphanet:1146
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1 xsd:anyURI {source="GARD:0000787"}

[Term]
id: MONDO:0015241
name: arthrogryposis-like syndrome
def: "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." [Orphanet:1149]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1149"}
synonym: "arthrogryposis like disorder" RELATED [GARD:0000783]
synonym: "Kuskokwim disease" EXACT [Orphanet:1149]
synonym: "Kuskokwim syndrome" RELATED [GARD:0003150]
xref: GARD:0000783 {source="MONDO:equivalentTo"}
xref: GARD:0003150 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD9:719.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1149 {source="MONDO:equivalentTo"}
xref: SCTID:702447002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.03"}
is_a: MONDO:0015168 {source="Orphanet:1149"} ! arthrogryposis multiplex congenita
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859709
property_value: exactMatch http://identifiers.org/omim/208200
property_value: exactMatch http://identifiers.org/snomedct/702447002
property_value: exactMatch Orphanet:1149
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder xsd:anyURI {source="GARD:0000783"}

[Term]
id: MONDO:0015242
name: obsolete aspergillosis
is_obsolete: true
replaced_by: MONDO:0005657

[Term]
id: MONDO:0015243
name: allergic bronchopulmonary aspergillosis
def: "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." [Orphanet:1164]
subset: gard_rare {source="GARD:0000602"}
subset: ordo_disease {source="Orphanet:1164"}
synonym: "ABPA" EXACT [Orphanet:1164]
synonym: "allergic aspergillosis" EXACT [Orphanet:1164]
synonym: "allergic bronchopulmonary aspergillosis, familial" RELATED [OMIM:103920]
synonym: "allergic bronchopulmonary mycosis" RELATED [GARD:0000602]
synonym: "aspergillosis, allergic bronchopulmonary" RELATED [GARD:0000602]
synonym: "Hinson-Pepys disease" EXACT [Orphanet:1164]
synonym: "pulmonary aspergillus disease" EXACT [DOID:13166]
xref: COHD:257583 {source="MONDO:equivalentTo"}
xref: DOID:13166 {source="MONDO:equivalentTo", source="EFO:0007140"}
xref: EFO:0007140 {source="MONDO:equivalentTo"}
xref: GARD:0000602 {source="MONDO:equivalentTo"}
xref: ICD10:B44.1+ {source="Orphanet:1164", source="ORDO:1164/ntbt"}
xref: ICD10:B44.81 {source="MONDO:equivalentTo", source="DOID:13166"}
xref: ICD10:J99.8* {source="Orphanet:1164", source="ORDO:1164/ntbt"}
xref: ICD9:518.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:13166"}
xref: MedDRA:10006474 {source="Orphanet:1164", source="ORDO:1164/e"}
xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="EFO:0007140", source="DOID:13166", source="MONDO:ontobio", source="ORDO:1164/e"}
xref: NCIT:C84547 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13166"}
xref: OMIM:103920 {source="Orphanet:1164", source="MONDO:equivalentTo", source="DOID:13166", source="ORDO:1164/btnt"}
xref: Orphanet:1164 {source="MONDO:equivalentTo", source="OMIM:103920"}
xref: SCTID:37981002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.10", source="DOID:13166"}
xref: UMLS:C0004031 {source="Orphanet:1164", source="NCIT:C84547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13166", source="ORDO:1164/e"}
is_a: MONDO:0000771 {source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease
is_a: MONDO:0005657 {source="DOID:13166", source="EFO:0007140", source="ICD10:B44.81", source="ICD10:B44.81/inferred", source="MESH:D001229", source="MONDO:Redundant", source="NCIT:C84547", source="linkedlifedata", source="linkedlifedata/inferred"} ! aspergillosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3278302
property_value: exactMatch DOID:13166
property_value: exactMatch http://identifiers.org/meddra/10006474
property_value: exactMatch http://identifiers.org/mesh/D001229
property_value: exactMatch http://identifiers.org/omim/103920
property_value: exactMatch http://identifiers.org/snomedct/37981002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004031
property_value: exactMatch NCIT:C84547
property_value: exactMatch Orphanet:1164
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis xsd:anyURI {source="GARD:0000602"}

[Term]
id: MONDO:0015244
name: autosomal recessive cerebellar ataxia
def: "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years." [Orphanet:1172]
subset: ordo_group_of_disorders {source="Orphanet:1172"}
synonym: "arca" EXACT [Orphanet:1172]
synonym: "cerebellar ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0050950 {source="MONDO:equivalentTo"}
xref: OMIMPS:213200 {source="MONDO:equivalentTo"}
xref: Orphanet:1172 {source="MONDO:equivalentTo"}
xref: UMLS:CN226644 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="DOID:0050950", source="Orphanet:1172"} ! hereditary ataxia
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020139 {source="Orphanet:1172"} ! early-onset ataxia with dementia
is_a: MONDO:0020263 {source="Orphanet:1172"} ! spinocerebellar ataxia with oculomotor anomaly
is_a: MONDO:0022687 ! cerebellar degeneration
property_value: exactMatch DOID:0050950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226644
property_value: exactMatch Orphanet:1172

[Term]
id: MONDO:0015245
name: obsolete rare intestinal disease
def: "Rare intestinal disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:117569"}
synonym: "rare intestinal disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:117569 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:117569
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005020
consider: UMLS:C0021831 {source="Orphanet:117569"}

[Term]
id: MONDO:0015246
name: syndromic anorectal malformation
def: "A anorectal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:117573"}
synonym: "syndrome associated with anorectal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with anorectal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic anorectal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:117573 {source="MONDO:equivalentTo"}
xref: UMLS:CN226645 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019938 {source="MONDO:Redundant", source="Orphanet:117573"} ! anorectal malformation
intersection_of: MONDO:0019938 ! anorectal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226645
property_value: exactMatch Orphanet:117573

[Term]
id: MONDO:0015247
name: opsoclonus-myoclonus syndrome
def: "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." [Orphanet:1183]
subset: ordo_disease {source="Orphanet:1183"}
synonym: "Ataxo-opso-myoclonus syndrome" EXACT [Orphanet:1183]
synonym: "dancing eye syndrome" EXACT [Orphanet:1183]
synonym: "dancing eye-dancing feet syndrome" EXACT [Orphanet:1183]
synonym: "Kinsbourne syndrome" EXACT [Orphanet:1183]
synonym: "oma syndrome" EXACT [Orphanet:1183]
synonym: "OMS" EXACT [Orphanet:1183]
synonym: "opsoclonus myoclonus syndrome" EXACT [NCIT:C4686]
synonym: "opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183]
synonym: "paraneoplastic opsoclonus-myoclonus" EXACT [Orphanet:1183]
synonym: "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183]
synonym: "POMA syndrome" EXACT [Orphanet:1183]
xref: EFO:1001383 {source="MONDO:equivalentTo"}
xref: GARD:0010009 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G25.3 {source="Orphanet:1183", source="ORDO:1183/ntbt"}
xref: ICD9:379.59 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053854 {source="Orphanet:1183", source="ORDO:1183/e"}
xref: MESH:D053578 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1183", source="ORDO:1183/e"}
xref: NCIT:C4686 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:1183 {source="MONDO:equivalentTo"}
xref: SCTID:230350000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0393626 {source="MONDO:equivalentTo", source="NCIT:C4686", source="Orphanet:1183", source="ORDO:1183/e"}
is_a: MONDO:0015144 {source="Orphanet:1183"} ! brain inflammatory disease
is_a: MONDO:0017652 {source="Orphanet:1183"} ! rare disease with myoclonus as a major feature
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:1183"} ! paraneoplastic neurologic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1721017
property_value: exactMatch http://identifiers.org/meddra/10053854
property_value: exactMatch http://identifiers.org/mesh/D053578
property_value: exactMatch http://identifiers.org/snomedct/230350000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096154
property_value: exactMatch NCIT:C4686
property_value: exactMatch Orphanet:1183

[Term]
id: MONDO:0015248
name: ataxia-photosensitivity-short stature syndrome
def: "Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." [Orphanet:1184]
subset: ordo_malformation_syndrome {source="Orphanet:1184"}
synonym: "Fenton-Wilkinson-Toselano syndrome" EXACT [Orphanet:1184]
xref: Orphanet:1184 {source="MONDO:equivalentTo"}
xref: UMLS:CN237421 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000557 {source="Orphanet:1184"} ! hereditary ataxia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1184"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237421
property_value: exactMatch Orphanet:1184

[Term]
id: MONDO:0015249
name: mitral atresia disorder
def: "A congenital heart defect characterized by the complete atresia of the mitral valve." [NCIT:C98992]
subset: ordo_morphological_anomaly {source="Orphanet:1205"}
synonym: "congenital atresia of mitral valve" EXACT [NCIT:C98992]
synonym: "congenital mitral valve atresia" EXACT [NCIT:C98992]
synonym: "mitral atresia" EXACT [MONDO:ambiguous]
synonym: "mitral valve atresia" EXACT [NCIT:C98992]
xref: GARD:0003685 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011560 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q23.2 {source="ORDO:1205/ntbt", source="Orphanet:1205", source="MONDO:directSiblingOf"}
xref: NCIT:C98992 {source="MONDO:equivalentTo"}
xref: Orphanet:1205 {source="MONDO:equivalentTo"}
xref: SCTID:23063005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
is_a: MONDO:0003767 {source="NCIT:C98992", source="linkedlifedata/inferred"} ! mitral valve disease
is_a: MONDO:0005453 {source="NCIT:C98992", source="linkedlifedata/inferred"} ! congenital heart disease
is_a: MONDO:0019817 {source="Orphanet:1205"} ! congenital mitral valve insufficiency and/or stenosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344760
property_value: exactMatch http://identifiers.org/snomedct/23063005
property_value: exactMatch NCIT:C98992
property_value: exactMatch Orphanet:1205

[Term]
id: MONDO:0015250
name: spinal atrophy-ophthalmoplegia-pyramidal syndrome
def: "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994." [Orphanet:1217]
subset: gard_rare {source="GARD:0004942"}
subset: ordo_disease {source="Orphanet:1217"}
synonym: "Hamano Tsukamoto syndrome" RELATED [GARD:0004942]
synonym: "Hamano-Tsukamoto syndrome" EXACT [Orphanet:1217]
synonym: "infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms" RELATED [GARD:0004942]
synonym: "spinal atrophy ophthalmoplegia pyramidal syndrome" RELATED [GARD:0004942]
xref: GARD:0004942 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:1217/attributed", source="ORDO:1217/ntbt", source="Orphanet:1217"}
xref: MESH:C535625 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1217 {source="MONDO:equivalentTo"}
xref: UMLS:C2930956 {source="MONDO:equivalentTo", source="Orphanet:1217", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016116 {source="Orphanet:1217"} ! generalized bulbospinal muscular atrophy
property_value: exactMatch http://identifiers.org/mesh/C535625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930956
property_value: exactMatch Orphanet:1217
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome xsd:anyURI {source="GARD:0004942"}

[Term]
id: MONDO:0015251
name: obsolete balantidiasis
is_obsolete: true
replaced_by: MONDO:0005662

[Term]
id: MONDO:0015252
name: severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1236"}
synonym: "BD syndrome" RELATED [GARD:0003482]
synonym: "intellectual disability - athetosis - microphthalmia" RELATED [GARD:0003482]
synonym: "intellectual disability-athetosis-microphthalmia syndrome" RELATED [GARD:0003482]
synonym: "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" EXACT [GARD:0003482]
xref: GARD:0003482 {source="MONDO:equivalentTo"}
xref: Orphanet:1236 {source="MONDO:equivalentTo", source="GARD:0003482"}
xref: UMLS:CN237422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:1236"} ! hereditary ataxia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1236"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237422
property_value: exactMatch Orphanet:1236
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia xsd:anyURI {source="GARD:0003482"}

[Term]
id: MONDO:0015253
name: Diamond-Blackfan anemia
def: "Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia." [Orphanet:124]
subset: clingen
subset: ordo_disease {source="Orphanet:124"}
synonym: "Aase syndrome" EXACT [Orphanet:124]
synonym: "Aase-Smith II syndrome" EXACT [Orphanet:124]
synonym: "anemia congenital erythroid hypoplastic" RELATED [GARD:0006274]
synonym: "anemia Diamond Blackfan type" RELATED [GARD:0006274]
synonym: "aregenerative anemia chronic congenital" RELATED [GARD:0006274]
synonym: "BDS" RELATED [GARD:0006274]
synonym: "Blackfan - Diamond syndrome" EXACT [DOID:1339]
synonym: "Blackfan Diamond syndrome" RELATED [GARD:0006274]
synonym: "Blackfan-Diamond anemia" EXACT [NCIT:C61236]
synonym: "chronic constitutional pure red cell anaemia" EXACT [DOID:1339]
synonym: "congenital hypoplastic anemia" EXACT [NCIT:C61236]
synonym: "congenital hypoplastic anemia, Blackfan-Diamond type" EXACT [Orphanet:124]
synonym: "congenital PRCA" EXACT [Orphanet:124]
synonym: "congenital pure red cell aplasia" EXACT [Orphanet:124]
synonym: "DBA" EXACT []
synonym: "erythrogenesis imperfecta" EXACT [NCIT:C61236]
synonym: "inherited erythroblastopenia" EXACT [NCIT:C61236]
synonym: "Red cell aplasia, pure hereditary" RELATED [GARD:0006274]
xref: DOID:1339 {source="MONDO:equivalentTo"}
xref: GARD:0006274 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="ORDO:124/inclusion", source="ORDO:124/ntbt", source="Orphanet:124"}
xref: ICD10:D61.01 {source="DOID:1339"}
xref: MedDRA:10062989 {source="ORDO:124/e", source="Orphanet:124"}
xref: MESH:D029503 {source="MONDO:equivalentTo", source="DOID:1339", source="ORDO:124/e", source="Orphanet:124"}
xref: NCIT:C61236 {source="MONDO:kboom-pr-0.92/0.69/1.45", source="MONDO:equivalentTo", source="DOID:1339"}
xref: OMIMPS:105650 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="MONDO:equivalentTo", source="DOID:1339"}
xref: SCTID:88854002 {source="MONDO:equivalentTo", source="DOID:1339"}
xref: UMLS:C0265265 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1260899 {source="NCIT:C61236", source="MONDO:equivalentTo", source="DOID:1339", source="ORDO:124/e", source="Orphanet:124"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0001705 {source="MESH:D029503", source="NCIT:C61236"} ! pure red-cell aplasia
is_a: MONDO:0001713 {source="DOID:1339", source="MESH:D029503", source="MONDOLEX:0015253", source="Orphanet:124"} ! inherited aplastic anemia
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015335 {source="Orphanet:124"} ! orofacial clefting syndrome
is_a: MONDO:0015945 {source="Orphanet:124"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019236 {source="Orphanet:124"} ! inborn disorder of purine metabolism
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/188588001
property_value: closeMatch http://identifiers.org/snomedct/191235004
property_value: closeMatch http://identifiers.org/snomedct/191239005
property_value: closeMatch http://identifiers.org/snomedct/234371002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931850
property_value: exactMatch DOID:1339
property_value: exactMatch http://identifiers.org/meddra/10062989
property_value: exactMatch http://identifiers.org/mesh/D029503
property_value: exactMatch http://identifiers.org/snomedct/88854002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260899
property_value: exactMatch NCIT:C61236
property_value: exactMatch Orphanet:124

[Term]
id: MONDO:0015254
name: schistosomiasis
def: "that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." [Orphanet:1247]
subset: ordo_disease {source="Orphanet:1247"}
synonym: "Bilharzia" EXACT [NCIT:C35000]
synonym: "bilharziasis" EXACT [Orphanet:1247]
synonym: "schistosomiasis" EXACT [NCIT:C35000]
synonym: "snail fever" EXACT [NCIT:C35000]
xref: DOID:1395 {source="MONDO:equivalentTo"}
xref: EFO:1001475 {source="MONDO:equivalentTo"}
xref: GARD:0009687 {source="MONDO:equivalentTo"}
xref: ICD10:B65.0 {source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD10:B65.1 {source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD10:B65.2 {source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD10:B65.3 {source="MONDO:superClassOf", source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD10:B65.8 {source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD10:B65.9 {source="ORDO:1247/btnt", source="Orphanet:1247"}
xref: ICD9:120.8 {source="DOID:1395", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:120.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10039603 {source="ORDO:1247/e", source="Orphanet:1247"}
xref: MESH:D012552 {source="ORDO:1247/e", source="MONDO:equivalentTo", source="Orphanet:1247"}
xref: NCIT:C35000 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:1247 {source="MONDO:equivalentTo"}
xref: SCTID:10087007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.35"}
xref: UMLS:C0036323 {source="ORDO:1247/e", source="NCIT:C35000", source="MONDO:equivalentTo", source="Orphanet:1247"}
is_a: MONDO:0004664 {source="DOID:1395", source="MESH:D012552/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187116001
property_value: closeMatch http://identifiers.org/snomedct/187121003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029827
property_value: exactMatch DOID:1395
property_value: exactMatch http://identifiers.org/meddra/10039603
property_value: exactMatch http://identifiers.org/mesh/D012552
property_value: exactMatch http://identifiers.org/snomedct/10087007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036323
property_value: exactMatch NCIT:C35000
property_value: exactMatch Orphanet:1247

[Term]
id: MONDO:0015255
name: blepharophimosis-radioulnar synostosis syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1256"}
synonym: "blepharophimosis radioulnar synostosis" RELATED [GARD:0003057]
synonym: "Jorgenson Lenz syndrome" RELATED [GARD:0003057]
synonym: "Jorgenson-Lenz syndrome" EXACT [Orphanet:1256]
synonym: "mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" RELATED [GARD:0003057]
synonym: "ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism" RELATED [GARD:0003057]
xref: GARD:0003057 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="Orphanet:1256", source="ORDO:1256/attributed", source="ORDO:1256/ntbt"}
xref: MESH:C536292 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1256 {source="MONDO:equivalentTo"}
xref: UMLS:C2931162 {source="Orphanet:1256", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015218 {source="Orphanet:1256"} ! syndromic developmental defect of the eye
is_a: MONDO:0019715 {source="Orphanet:1256"} ! syndrome with synostosis or other joint formation defect
is_a: MONDO:0020169 {source="Orphanet:1256"} ! rare disorder with ptosis
property_value: exactMatch http://identifiers.org/mesh/C536292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931162
property_value: exactMatch Orphanet:1256

[Term]
id: MONDO:0015256
name: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1258"}
synonym: "Rodini-Richieri Costa syndrome" EXACT [Orphanet:1258]
xref: Orphanet:1258 {source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:1258"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch Orphanet:1258

[Term]
id: MONDO:0015257
name: sino-auricular heart block
subset: ordo_disease {source="Orphanet:1260"}
xref: ICD10:I45.5 {source="ORDO:1260/inclusion", source="Orphanet:1260", source="ORDO:1260/ntbt"}
xref: Orphanet:1260 {source="MONDO:equivalentTo"}
xref: UMLS:CN199152 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:1260"} ! genetic cardiac rhythm disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199152
property_value: exactMatch Orphanet:1260

[Term]
id: MONDO:0015258
name: obsolete botulism
is_obsolete: true
replaced_by: MONDO:0005498

[Term]
id: MONDO:0015259
name: brachydactyly-mesomelia-intellectual disability-heart defects syndrome
def: "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." [Orphanet:1277]
subset: gard_rare {source="GARD:0005036"}
subset: ordo_malformation_syndrome {source="Orphanet:1277"}
synonym: "brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face" RELATED [GARD:0005036]
synonym: "Stratton-Garcia-Young syndrome" EXACT [Orphanet:1277]
xref: GARD:0005036 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1277", source="ORDO:1277/attributed", source="ORDO:1277/ntbt"}
xref: Orphanet:1277 {source="MONDO:equivalentTo"}
xref: UMLS:CN199165 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1277", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1277"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199165
property_value: exactMatch Orphanet:1277
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome xsd:anyURI {source="GARD:0005036"}

[Term]
id: MONDO:0015260
name: diphyllobothriasis
def: "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells)." [Orphanet:128]
subset: ordo_disease {source="Orphanet:128"}
synonym: "Bothriocephalosis" EXACT [Orphanet:128]
synonym: "Diphyllobothrium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Diphyllobothrium disease or disorder" EXACT []
synonym: "Diphyllobothrium infection" EXACT [DOID:10075, MTHICD9_2006:123.4]
synonym: "Diphyllobothrium infectious disease" EXACT []
synonym: "fish tapeworm" EXACT [DOID:10075]
xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"}
xref: EFO:0007238 {source="MONDO:equivalentTo"}
xref: GARD:0000942 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B70.0 {source="ORDO:128/e", source="Orphanet:128", source="MONDO:equivalentTo", source="DOID:10075"}
xref: ICD9:123.4 {source="DOID:10075"}
xref: MedDRA:10013029 {source="ORDO:128/e", source="Orphanet:128"}
xref: MESH:D004169 {source="EFO:0007238", source="MONDO:equivalentTo", source="DOID:10075", source="MONDO:ontobio"}
xref: NCIT:C128391 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:128 {source="MONDO:equivalentTo"}
xref: SCTID:187151009 {source="MONDO:equivalentTo", source="DOID:10075", source="MONDO:kboom-pr-0.89/0.77/0.20"}
xref: UMLS:C0012561 {source="Orphanet:128", source="MONDO:equivalentTo", source="DOID:10075", source="NCIT:C128391"}
is_a: MONDO:0042488 ! Cestode infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/359799003
property_value: closeMatch http://identifiers.org/snomedct/49047003
property_value: exactMatch DOID:10075
property_value: exactMatch http://identifiers.org/meddra/10013029
property_value: exactMatch http://identifiers.org/mesh/D004169
property_value: exactMatch http://identifiers.org/snomedct/187151009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277032
property_value: exactMatch NCIT:C128391
property_value: exactMatch Orphanet:128

[Term]
id: MONDO:0015261
name: pseudopelade of Brocq
def: "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." [Orphanet:129]
subset: gard_rare {source="GARD:0004536"}
subset: ordo_disease {source="Orphanet:129"}
synonym: "Brocq pseudopelade" RELATED [GARD:0004536]
synonym: "pseudo pelade of Brocq" RELATED [GARD:0004536]
synonym: "pseudo-pelade of Brocq" RELATED [GARD:0004536]
xref: GARD:0004536 {source="MONDO:equivalentTo"}
xref: ICD10:L66.0 {source="Orphanet:129", source="ORDO:129/ntbt"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:129 {source="MONDO:equivalentTo"}
xref: SCTID:238731001 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:129", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia
property_value: exactMatch http://identifiers.org/mesh/C531609
property_value: exactMatch http://identifiers.org/snomedct/238731001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086873
property_value: exactMatch Orphanet:129
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq xsd:anyURI {source="GARD:0004536"}

[Term]
id: MONDO:0015262
name: brachyolmia
def: "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." [Orphanet:1293]
subset: ordo_group_of_disorders {source="Orphanet:1293"}
synonym: "brachyrachia" EXACT [DOID:0050690]
xref: DOID:0050690 {source="MONDO:equivalentTo"}
xref: GARD:0010903 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q76.3 {source="Orphanet:1293", source="ORDO:1293/attributed", source="ORDO:1293/ntbt"}
xref: ICD9:756.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537098 {source="MONDO:equivalentTo", source="Orphanet:1293", source="ORDO:1293/e"}
xref: Orphanet:1293 {source="MONDO:equivalentTo", source="DOID:0050690"}
xref: SCTID:254088006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432228 {source="MONDO:equivalentTo", source="Orphanet:1293", source="ORDO:1293/e"}
is_a: MONDO:0005516 {source="DOID:0050690", source="MESH:C537098"} ! osteochondrodysplasia
is_a: MONDO:0019694 {source="Orphanet:1293"} ! spondylodysplastic dysplasia
property_value: exactMatch DOID:0050690
property_value: exactMatch http://identifiers.org/mesh/C537098
property_value: exactMatch http://identifiers.org/snomedct/254088006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432228
property_value: exactMatch Orphanet:1293

[Term]
id: MONDO:0015263
name: Brugada syndrome
def: "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." [NCIT:C142891]
subset: clingen
subset: ordo_disease {source="Orphanet:130"}
synonym: "Bangungut" EXACT [DOID:0050451, ORDO:130, Orphanet:130]
synonym: "Brugada syndrome" EXACT [NCIT:C142891]
synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, ORDO:130]
synonym: "dream disease" EXACT [DOID:0050451, ORDO:130, Orphanet:130]
synonym: "idiopathic ventricular fibrillation, Brugada type" EXACT [Orphanet:130]
synonym: "Pokkuri death syndrome" EXACT [DOID:0050451, ORDO:130, Orphanet:130]
synonym: "right bundle branch block, ST segment elevation, and sudden death syndrome" EXACT [NCIT:C142891]
synonym: "sudden unexpected nocturnal death syndrome" RELATED [GARD:0001030]
synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, ORDO:130, Orphanet:130]
synonym: "SUNDS" EXACT [DOID:0050451, ORDO:130, Orphanet:130]
xref: DOID:0050451 {source="MONDO:equivalentTo"}
xref: GARD:0001030 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I49.8 {source="DOID:0050451", source="ORDO:130/e", source="Orphanet:130", source="ORDO:130/inclusion"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059027 {source="ORDO:130/e", source="Orphanet:130"}
xref: MESH:D053840 {source="DOID:0050451", source="MONDO:equivalentTo", source="ORDO:130/e", source="Orphanet:130"}
xref: NCIT:C142891 {source="MONDO:equivalentTo"}
xref: OMIMPS:601144 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:130 {source="DOID:0050451", source="MONDO:equivalentTo"}
xref: SCTID:418818005 {source="DOID:0050451", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1142166 {source="DOID:0050451", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="ORDO:130/e", source="Orphanet:130"}
is_a: MONDO:0000992 {source="DOID:0050451", source="MONDO:Redundant", source="indirect"} ! heart conduction disease
is_a: MONDO:0002254 {source="NCIT:C142891"} ! syndromic disease
is_a: MONDO:0015110 {source="Orphanet:130"} ! genetic cardiac rhythm disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1721096
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1955837
property_value: exactMatch DOID:0050451
property_value: exactMatch http://identifiers.org/meddra/10059027
property_value: exactMatch http://identifiers.org/mesh/D053840
property_value: exactMatch http://identifiers.org/snomedct/418818005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1142166
property_value: exactMatch NCIT:C142891
property_value: exactMatch NCIT:C71059
property_value: exactMatch Orphanet:130

[Term]
id: MONDO:0015264
name: cryptogenic organizing pneumonia
def: "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia (see this term) characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." [Orphanet:1302]
subset: ordo_disease {source="Orphanet:1302"}
synonym: "BOOP" EXACT EXCLUDE [DOID:0050157]
synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, Orphanet:1302]
synonym: "COP" EXACT [Orphanet:1302]
synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157]
synonym: "idiopathic BOOP" RELATED [GARD:0001620]
synonym: "idiopathic bronchiolitis obliterans organizing pneumonia" RELATED [GARD:0001620]
synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [DOID:0050157]
xref: COHD:4045260 {source="MONDO:equivalentTo"}
xref: DOID:0050157 {source="MONDO:equivalentTo"}
xref: EFO:1001300 {source="MONDO:equivalentTo"}
xref: GARD:0001620 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:J84.1 {source="ORDO:1302/ntbt", source="Orphanet:1302"}
xref: ICD10:J84.116 {source="DOID:0050157", source="MONDO:equivalentTo"}
xref: ICD9:516.36 {source="DOID:0050157"}
xref: MESH:D018549 {source="DOID:0050157", source="ORDO:1302/e", source="MONDO:equivalentTo", source="Orphanet:1302", source="MONDO:ontobio"}
xref: NCIT:C62586 {source="DOID:0050157", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:1302 {source="MONDO:equivalentTo"}
xref: SCTID:719218000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.11"}
xref: UMLS:C0242770 {source="DOID:0050157", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1302", source="NCIT:C62586"}
is_a: MONDO:0002429 {source="DOID:0050157", source="MESH:D018549", source="Orphanet:1302", source="linkedlifedata"} ! idiopathic interstitial pneumonia
property_value: closeMatch http://identifiers.org/snomedct/129458007
property_value: exactMatch DOID:0050157
property_value: exactMatch http://identifiers.org/mesh/D018549
property_value: exactMatch http://identifiers.org/snomedct/719218000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242770
property_value: exactMatch NCIT:C62586
property_value: exactMatch Orphanet:1302

[Term]
id: MONDO:0015265
name: bronchiolitis obliterans with obstructive pulmonary disease
alt_id: MONDO:0005681
def: "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." [Orphanet:1303]
comment: Editor note: TODO check this
subset: gard_rare
subset: ordo_disease {source="Orphanet:1303"}
synonym: "bo" EXACT [NCIT:C62580]
synonym: "BOOP" EXACT [Orphanet:1303]
synonym: "bronchiolitis exudativa" RELATED [DOID:2799]
synonym: "bronchiolitis fibrosa obliterans" EXACT [DOID:2799]
synonym: "bronchiolitis obliterans" EXACT [MONDO:ambiguous]
synonym: "constrictive bronchiolitis" EXACT [Orphanet:1303]
synonym: "obliterative bronchiolitis" EXACT [DOID:2799, Orphanet:1303]
synonym: "organized pneumonia" EXACT []
synonym: "organizing pneumonia" RELATED [GARD:0005961]
xref: DOID:2799 {source="MONDO:equivalentTo", source="EFO:0007183"}
xref: EFO:0007183 {source="MONDO:equivalentTo"}
xref: GARD:0009551 {source="MONDO:equivalentTo"}
xref: HP:0011946 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J44.8 {source="ORDO:1303/ntbt", source="Orphanet:1303"}
xref: ICD9:466.19 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C62580 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2799"}
xref: Orphanet:1303 {source="GARD:0005961", source="MONDO:equivalentTo"}
xref: SCTID:40100001 {source="MONDO:equivalentTo", source="DOID:2799", source="MONDO:kboom-pr-0.94/0.83/0.71"}
xref: UMLS:CN199179 {source="MONDO:equivalentTo"}
is_a: MONDO:0002465 {source="NCIT:C62580", source="linkedlifedata"} ! bronchiolitis (disease)
is_a: MONDO:0005249 {source="linkedlife"} ! pneumonia
is_a: MONDO:0015925 {source="DOID:2799", source="EFO:0007183"} ! interstitial lung disease
property_value: closeMatch http://identifiers.org/mesh/D001989
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006272
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2350875
property_value: exactMatch DOID:2799
property_value: exactMatch http://identifiers.org/snomedct/40100001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199179
property_value: exactMatch NCIT:C62580
property_value: exactMatch Orphanet:1303

[Term]
id: MONDO:0015266
name: obsolete brucellosis
is_obsolete: true
replaced_by: MONDO:0005683

[Term]
id: MONDO:0015267
name: Feingold syndrome
def: "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." [Orphanet:1305]
subset: ordo_malformation_syndrome {source="Orphanet:1305"}
synonym: "Brunner-Winter syndrome" EXACT [Orphanet:1305]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [DOID:0060464, Orphanet:1305]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum" RELATED [GARD:0008407]
synonym: "FGLDS" EXACT [DOID:0060464, Orphanet:1305]
synonym: "FS" EXACT [Orphanet:1305]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome" EXACT [Orphanet:1305]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [DOID:0060464]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome" EXACT [Orphanet:1305]
synonym: "MMT" EXACT [Orphanet:1305]
synonym: "MODED syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "ODED syndrome" EXACT [DOID:0060464, Orphanet:1305]
xref: DOID:0060464 {source="MONDO:equivalentTo"}
xref: GARD:0008407 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="DOID:0060464", source="ORDO:1305/attributed", source="ORDO:1305/ntbt", source="Orphanet:1305"}
xref: NCIT:C74987 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.70/1.52"}
xref: OMIMPS:164280 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1305 {source="DOID:0060464", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0060464", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015208 {source="Orphanet:1305"} ! syndromic esophageal malformation
is_a: MONDO:0015210 {source="Orphanet:1305"} ! syndromic gastroduodenal malformation
is_a: MONDO:0015222 ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0019066 {source="Orphanet:1305", source="Orphanet:1305/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1305"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1305"} ! non-syndromic respiratory or mediastinal malformation
property_value: closeMatch http://identifiers.org/mesh/C537734
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796068
property_value: exactMatch DOID:0060464
property_value: exactMatch NCIT:C74987
property_value: exactMatch Orphanet:1305

[Term]
id: MONDO:0015268
name: medullary sponge kidney
def: "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." [https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney]
subset: gard_rare {source="GARD:0000232"}
subset: ordo_morphological_anomaly {source="Orphanet:1309"}
synonym: "Cacchi Ricci disease" RELATED [GARD:0000232]
synonym: "Cacchi-Ricci disease" EXACT [Orphanet:1309]
synonym: "Cacchi-Ricci syndrome" RELATED [GARD:0000232]
synonym: "cystic dilatation of renal collecting tubes" RELATED [GARD:0000232]
synonym: "MSK" EXACT [Orphanet:1309]
synonym: "Precalicial canalicular ectasia" EXACT [Orphanet:1309]
synonym: "Precalyceal canalicular ectasia" RELATED [GARD:0000232]
synonym: "sponge kidney" RELATED [GARD:0000232]
xref: COHD:195072 {source="MONDO:equivalentTo"}
xref: GARD:0000232 {source="MONDO:equivalentTo"}
xref: ICD10:Q61.5 {source="ORDO:1309/inclusion", source="Orphanet:1309", source="ORDO:1309/ntbt"}
xref: ICD9:753.17 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10027104 {source="Orphanet:1309", source="ORDO:1309/e"}
xref: MESH:D007691 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1309", source="ORDO:1309/e"}
xref: NCIT:C34751 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:1309 {source="MONDO:equivalentTo"}
xref: SCTID:236443009 {source="MONDO:kboom-pr-0.90/0.76/0.43", source="MONDO:equivalentTo"}
xref: UMLS:C0022681 {source="MONDO:equivalentTo", source="NCIT:C34751", source="Orphanet:1309", source="ORDO:1309/e"}
is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystic kidney disease
is_a: MONDO:0019720 {source="Orphanet:1309"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/meddra/10027104
property_value: exactMatch http://identifiers.org/mesh/D007691
property_value: exactMatch http://identifiers.org/snomedct/236443009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022681
property_value: exactMatch NCIT:C34751
property_value: exactMatch Orphanet:1309
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney xsd:anyURI {source="GARD:0000232"}

[Term]
id: MONDO:0015269
name: symmetrical thalamic calcifications
def: "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." [Orphanet:1314]
subset: gard_rare {source="GARD:0005070"}
subset: ordo_disease {source="Orphanet:1314"}
synonym: "bilateral symmetrical thalamic gliosis" EXACT [Orphanet:1314]
xref: GARD:0005070 {source="MONDO:equivalentTo"}
xref: ICD10:G93.8 {source="ORDO:1314/ntbt", source="Orphanet:1314"}
xref: Orphanet:1314 {source="MONDO:equivalentTo"}
xref: SCTID:719164000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304914 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0005071 {source="Orphanet:1314"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/719164000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304914
property_value: exactMatch Orphanet:1314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications xsd:anyURI {source="GARD:0005070"}

[Term]
id: MONDO:0015270
name: butyrylcholinesterase deficiency
def: "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency." [Orphanet:132]
subset: ordo_disease {source="Orphanet:132"}
synonym: "Acholinesterasemia" RELATED [OMIM:617936]
synonym: "apnea, postanesthetic" RELATED [GARD:0007482, OMIM:617936]
synonym: "BCHED" RELATED [OMIM:617936]
synonym: "butyrylcholinesterase deficiency, fluoride-resistant, Japanese type" RELATED [OMIM:617936]
synonym: "butyrylcholinesterase deficiency; BCHED" RELATED [OMIM:617936]
synonym: "cholinesterase 2 deficiency" RELATED [GARD:0007482]
synonym: "hypocholinesterasemia, fluoride-resistant, Japanese type" RELATED [OMIM:617936]
synonym: "pseudocholinesterase deficiency" RELATED [GARD:0007482, OMIM:617936]
synonym: "pseudocholinesterase E1" RELATED [GARD:0007482]
synonym: "succinylcholine sensitivity" RELATED [GARD:0007482]
synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482, OMIM:617936]
xref: GARD:0007482 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537417 {source="MONDO:equivalentTo", source="ORDO:132/e", source="MONDO:ontobio", source="Orphanet:132"}
xref: OMIM:617936 {source="MONDO:equivalentTo"}
xref: Orphanet:132 {source="MONDO:equivalentTo", source="OMIM:617936"}
xref: SCTID:191397007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
xref: UMLS:C1283400 {source="MONDO:equivalentTo", source="ORDO:132/e", source="Orphanet:132"}
is_a: MONDO:0019253 {source="Orphanet:132"} ! metabolic disease involving other neurotransmitter deficiency
property_value: exactMatch http://identifiers.org/mesh/C537417
property_value: exactMatch http://identifiers.org/omim/617936
property_value: exactMatch http://identifiers.org/snomedct/191397007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1283400
property_value: exactMatch Orphanet:132

[Term]
id: MONDO:0015271
name: idiopathic camptocormia
def: "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." [Orphanet:1320]
subset: ordo_morphological_anomaly {source="Orphanet:1320"}
synonym: "bent spine" RELATED [GARD:0001063]
synonym: "bent spine syndrome" RELATED [GARD:0001063]
synonym: "camptocormia" RELATED [GARD:0001063]
synonym: "camptocormism" RELATED [GARD:0001063]
synonym: "idiopathic camptocormism" EXACT [Orphanet:1320]
synonym: "idiopathic progressive lumbar kyphosis" EXACT [Orphanet:1320]
xref: GARD:0001063 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M43.8 {source="Orphanet:1320", source="ORDO:1320/ntbt"}
xref: MedDRA:10069646 {source="ORDO:1320/e", source="Orphanet:1320"}
xref: MESH:C537968 {source="ORDO:1320/e", source="Orphanet:1320", source="MONDO:equivalentTo"}
xref: Orphanet:1320 {source="MONDO:equivalentTo"}
xref: SCTID:13534001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016105 {source="Orphanet:1320"} ! acquired skeletal muscle disease
property_value: exactMatch http://identifiers.org/meddra/10069646
property_value: exactMatch http://identifiers.org/mesh/C537968
property_value: exactMatch http://identifiers.org/snomedct/13534001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264162
property_value: exactMatch Orphanet:1320

[Term]
id: MONDO:0015272
name: camptodactyly-taurinuria syndrome
def: "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." [Orphanet:1325]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1325"}
synonym: "camptodactyly taurinuria" RELATED [GARD:0001069]
synonym: "camptodactyly with taurinuria" RELATED [GARD:0001069]
synonym: "familial streblodactyly with amino-aciduria" EXACT [Orphanet:1325]
xref: GARD:0001069 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.1 {source="ORDO:1325/attributed", source="ORDO:1325/ntbt", source="Orphanet:1325"}
xref: MESH:C537972 {source="MONDO:equivalentTo", source="Orphanet:1325", source="ORDO:1325/e"}
xref: Orphanet:1325 {source="MONDO:equivalentTo"}
xref: SCTID:733466005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931681 {source="GARD:0001069", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1325", source="ORDO:1325/e"}
is_a: MONDO:0015226 {source="Orphanet:1325"} ! syndrome with limb malformations as a major feature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C537972
property_value: exactMatch http://identifiers.org/snomedct/733466005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931681
property_value: exactMatch Orphanet:1325

[Term]
id: MONDO:0015273
name: complete atrioventricular canal
def: "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." [Orphanet:1329]
subset: gard_rare {source="GARD:0001454"}
subset: ordo_morphological_anomaly {source="Orphanet:1329"}
synonym: "CAVC" EXACT [Orphanet:1329]
synonym: "common atrioventricular canal" EXACT [Orphanet:1329]
synonym: "complete atrioventricular septal defect" EXACT [Orphanet:1329]
xref: GARD:0001454 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.2 {source="ORDO:1329/inclusion", source="ORDO:1329/ntbt", source="Orphanet:1329"}
xref: ICD9:745.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535974 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1329 {source="MONDO:equivalentTo"}
xref: SCTID:360481003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0017131 {source="Orphanet:1329"} ! genetic cardiac anomaly
is_a: MONDO:0020290 {source="MONDOLEX:0015273", source="Orphanet:1329", source="linkedlifedata"} ! atrioventricular septal defect
property_value: exactMatch http://identifiers.org/mesh/C535974
property_value: exactMatch http://identifiers.org/snomedct/360481003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221215
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344787
property_value: exactMatch Orphanet:1329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal xsd:anyURI {source="GARD:0001454"}

[Term]
id: MONDO:0015274
name: chronic beryllium disease
def: "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." [Orphanet:133]
subset: ordo_disease {source="Orphanet:133"}
synonym: "acute berylliosis" RELATED [GARD:0000867]
synonym: "berylliosis" EXACT [MONDO:0005666, Orphanet:133]
synonym: "beryllium disease" RELATED [GARD:0000867]
synonym: "beryllium poisoning" EXACT [CSP2005:1858-2321, DOID:10322]
synonym: "Beryllliosis" RELATED [GARD:0000867]
synonym: "chronic berylliosis" EXACT [Orphanet:133]
synonym: "chronic beryllium lung disease" EXACT [Orphanet:133]
synonym: "chronic pulmonary berylliosis" RELATED [GARD:0000867]
synonym: "reversible berylliosis" RELATED [GARD:0000867]
synonym: "Subacute berylliosis" RELATED [GARD:0000867]
xref: DOID:10322 {source="MONDO:equivalentTo", source="EFO:0007168"}
xref: EFO:0007168 {source="MONDO:equivalentTo"}
xref: GARD:0000867 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:J63.2 {source="ORDO:133/e", source="Orphanet:133", source="DOID:10322"}
xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10004485 {source="ORDO:133/e", source="Orphanet:133"}
xref: MESH:D001607 {source="MONDO:equivalentTo", source="ORDO:133/e", source="Orphanet:133", source="DOID:10322", source="EFO:0007168"}
xref: Orphanet:133 {source="MONDO:equivalentTo"}
xref: SCTID:18121009 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MESH:D001607", source="MONDO:Redundant", source="Orphanet:133"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/snomedct/8247009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005138
property_value: exactMatch DOID:10322
property_value: exactMatch http://identifiers.org/meddra/10004485
property_value: exactMatch http://identifiers.org/mesh/D001607
property_value: exactMatch http://identifiers.org/snomedct/18121009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221052
property_value: exactMatch Orphanet:133

[Term]
id: MONDO:0015275
name: partial atrioventricular canal
def: "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." [Orphanet:1330]
subset: gard_rare {source="GARD:0004229"}
subset: ordo_morphological_anomaly {source="Orphanet:1330"}
synonym: "partial atrioventricular canal defect" EXACT [Orphanet:1330]
synonym: "partial atrioventricular septal defects" RELATED [GARD:0004229]
synonym: "partial AVSD" RELATED [GARD:0004229]
synonym: "partial common atrioventricular canal" RELATED [GARD:0004229]
synonym: "PAVC" EXACT [Orphanet:1330]
xref: GARD:0004229 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.2 {source="Orphanet:1330", source="ORDO:1330/ntbt"}
xref: MESH:C536112 {source="Orphanet:1330", source="ORDO:1330/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1330 {source="MONDO:equivalentTo"}
xref: SCTID:718216009 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"}
is_a: MONDO:0020290 {source="MONDOLEX:0015275", source="Orphanet:1330"} ! atrioventricular septal defect
property_value: exactMatch http://identifiers.org/mesh/C536112
property_value: exactMatch http://identifiers.org/snomedct/718216009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344735
property_value: exactMatch Orphanet:1330
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal xsd:anyURI {source="GARD:0004229"}

[Term]
id: MONDO:0015276
name: obsolete prostate cancer
is_obsolete: true
replaced_by: MONDO:0008315

[Term]
id: MONDO:0015277
name: medullary thyroid gland carcinoma
def: "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." [NCIT:C3879]
subset: ordo_disease {source="Orphanet:1332"}
synonym: "C cell carcinoma" EXACT [NCIT:C3879]
synonym: "carcinoma of parafollicular cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, C-cell, malignant" EXACT [NCIT:C3879]
synonym: "medullary carcinoma" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of the thyroid" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of the thyroid gland" EXACT [DOID:3973, NCIT:C3879]
synonym: "medullary carcinoma of thyroid" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of thyroid gland" EXACT [NCIT:C3879]
synonym: "medullary thyroid cancer" EXACT [NCIT:C3879]
synonym: "medullary thyroid cancer (MTC)" RELATED [GARD:0007004]
synonym: "medullary thyroid carcinoma" EXACT [CSP2005:4003-0036, DOID:3973, MONDO:ambiguous, NCIT:C3879]
synonym: "medullary thyroid gland carcinoma" EXACT [NCIT:C3879]
synonym: "MTC" EXACT [NCIT:C3879, Orphanet:1332]
synonym: "parafollicular cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3879]
synonym: "THME" RELATED [ONCOTREE:THME]
synonym: "thyroid cancer, medullary" RELATED [GARD:0007004]
synonym: "thyroid carcinoma, medullary" RELATED [GARD:0007004]
synonym: "thyroid gland medullary cancer" EXACT [NCIT:C3879]
synonym: "thyroid gland medullary carcinoma" EXACT [MONDO:0002823, NCIT:C3879]
synonym: "thyroid gland neuroendocrine carcinoma" EXACT [NCIT:C3879]
synonym: "thyroid medullary carcinoma" EXACT [NCIT:C3879]
synonym: "ultimobranchial thyroid tumor" EXACT [DOID:3973]
synonym: "ultimobranchial thyroid tumour" EXACT [DOID:3973]
xref: DOID:3973 {source="MONDO:equivalentTo"}
xref: GARD:0007004 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0002865 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C73 {source="Orphanet:1332", source="ORDO:1332/ntbt"}
xref: MedDRA:10027101 {source="Orphanet:1332", source="ORDO:1332/e"}
xref: NCIT:C3879 {source="DOID:3973", source="MONDO:equivalentTo"}
xref: ONCOTREE:THME {source="MONDO:equivalentTo"}
xref: Orphanet:1332 {source="MONDO:equivalentTo"}
xref: SCTID:255032005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:3973", source="MONDO:equivalentTo"}
xref: UMLS:C0206693 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0238462 {source="Orphanet:1332", source="ORDO:1332/e", source="DOID:3973", source="MONDO:equivalentTo", source="NCIT:C3879"}
is_a: MONDO:0002120 {source="MONDOLEX:0015277", source="NCIT:C3879"} ! neuroendocrine carcinoma
is_a: MONDO:0005034 {source="DOID:3973"} ! thyroid gland follicular carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128916007
property_value: closeMatch http://identifiers.org/snomedct/32913002
property_value: exactMatch DOID:3973
property_value: exactMatch http://identifiers.org/meddra/10027101
property_value: exactMatch http://identifiers.org/mesh/C536914
property_value: exactMatch http://identifiers.org/snomedct/255032005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238462
property_value: exactMatch NCIT:C3879
property_value: exactMatch Orphanet:1332

[Term]
id: MONDO:0015278
name: familial pancreatic carcinoma
def: "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." [Orphanet:1333]
subset: clingen
subset: ordo_disease {source="Orphanet:1333"}
synonym: "familial pancreatic cancer" EXACT [NCIT:C43298, Orphanet:1333]
synonym: "familial pancreatic carcinoma" EXACT [NCIT:C43298]
synonym: "hereditary exocrine pancreatic carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary pancreatic cancer" EXACT [NCIT:C43298]
synonym: "hereditary pancreatic carcinoma" EXACT [NCIT:C43298]
synonym: "pancreatic acinar carcinoma" RELATED [OMIM:260350]
xref: GARD:0004206 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C25 {source="Orphanet:1333", source="ORDO:1333/ntbt", source="ORDO:1333/inclusion"}
xref: MESH:C535837 {source="ORDO:1333/e", source="Orphanet:1333", source="MONDO:equivalentTo"}
xref: NCIT:C43298 {source="MONDO:equivalentTo", source="kboom:pr0.75-conf4.32"}
xref: OMIM:260350 {source="Orphanet:1333", source="MONDO:equivalentTo", source="ORDO:1333/ntbt"}
xref: Orphanet:1333 {source="MONDO:equivalentTo"}
xref: SCTID:715414009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931038 {source="ORDO:1333/e", source="Orphanet:1333", source="MONDO:equivalentTo", source="NCIT:C43298"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C43298", source="Orphanet:1333", source="indirect"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0005192 ! exocrine pancreatic carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0015618", source="MONDO:0016314"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535837
property_value: exactMatch http://identifiers.org/omim/260350
property_value: exactMatch http://identifiers.org/snomedct/715414009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931038
property_value: exactMatch NCIT:C43298
property_value: exactMatch Orphanet:1333

[Term]
id: MONDO:0015279
name: chronic mucocutaneous candidiasis (disease)
subset: ordo_disease {source="Orphanet:1334"}
synonym: "CANDF" EXACT [MONDO:cjm]
synonym: "chronic mucocutaneous candidiasis" EXACT [DOID:2058, MONDO:ambiguous, NCIT:C34444]
synonym: "CMC" EXACT [Orphanet:1334]
synonym: "familial candidiasis" EXACT [OMIMPS:114580]
synonym: "familial chronic mucocutaneous candidiasis" EXACT [MONDO:0024486]
synonym: "familial CMC" EXACT [MONDO:cjm]
xref: DOID:2058 {source="MONDO:equivalentTo"}
xref: HP:0002728 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:B37.2 {source="Orphanet:1334", source="ORDO:1334/attributed", source="ORDO:1334/ntbt"}
xref: MedDRA:10009007 {source="Orphanet:1334", source="ORDO:1334/e"}
xref: MESH:D002178 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34444 {source="DOID:2058", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:114580 {source="MONDO:equivalentTo"}
xref: Orphanet:1334 {source="DOID:2058", source="MONDO:equivalentTo"}
xref: SCTID:234568006 {source="DOID:2058", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0006845 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/e", source="MONDO:equivalentTo", source="NCIT:C34444"}
is_a: MONDO:0015979 {source="Orphanet:1334"} ! hereditary predisposition to infections
is_a: MONDO:0019305 {source="Orphanet:1334"} ! immune deficiency with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0002026 ! candidiasis
relationship: predisposes_towards MONDO:0002026 ! candidiasis
property_value: exactMatch DOID:2058
property_value: exactMatch http://identifiers.org/meddra/10009007
property_value: exactMatch http://identifiers.org/mesh/D002178
property_value: exactMatch http://identifiers.org/snomedct/234568006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006845
property_value: exactMatch NCIT:C34444
property_value: exactMatch Orphanet:1334

[Term]
id: MONDO:0015280
name: cardiofaciocutaneous syndrome
def: "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." [Orphanet:1340]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:1340"}
synonym: "cardio-facial-cutaneous syndrome" EXACT [DOID:0060233]
synonym: "cardio-facio-cutaneous syndrome" RELATED [GARD:0009146]
synonym: "cardiofaciocutaneous (CFC) syndrome" EXACT [NCIT:C84617]
synonym: "CFC" EXACT [NCIT:C84617]
synonym: "CFC syndrome" EXACT [DOID:0060233, Orphanet:1340]
synonym: "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" RELATED [GARD:0009146]
xref: DOID:0060233 {source="MONDO:equivalentTo"}
xref: GARD:0009146 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1340", source="DOID:0060233", source="ORDO:1340/attributed", source="ORDO:1340/ntbt"}
xref: MESH:C535579 {source="Orphanet:1340", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1340/e"}
xref: NCIT:C84617 {source="MONDO:kboom-pr-0.91/0.70/1.16", source="MONDO:equivalentTo"}
xref: OMIMPS:115150 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1340 {source="DOID:0060233", source="MONDO:equivalentTo"}
xref: SCTID:403770008 {source="MONDO:equivalentTo"}
xref: UMLS:C1275081 {source="Orphanet:1340", source="MONDO:equivalentTo", source="NCIT:C84617", source="ORDO:1340/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1340", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019287 {source="MESH:C535579", source="Orphanet:1340"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020297 {source="Orphanet:1340"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:0060233
property_value: exactMatch http://identifiers.org/mesh/C535579
property_value: exactMatch http://identifiers.org/snomedct/403770008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275081
property_value: exactMatch NCIT:C84617
property_value: exactMatch Orphanet:1340

[Term]
id: MONDO:0015281
name: atrial standstill
def: "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." [Orphanet:1344]
subset: ordo_disease {source="Orphanet:1344"}
synonym: "atrial cardiomyopathy with heart block" EXACT [Orphanet:1344]
xref: DC:0000699 {source="MONDO:equivalentTo"}
xref: ICD10:I45.5 {source="Orphanet:1344", source="ORDO:1344/attributed", source="ORDO:1344/ntbt"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1344 {source="MONDO:equivalentTo"}
xref: SCTID:450919004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN199216 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:1344"} ! genetic cardiac rhythm disease
is_a: MONDO:0016340 {source="Orphanet:1344"} ! familial restrictive cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0541782
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838539
property_value: exactMatch http://identifiers.org/snomedct/450919004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199216
property_value: exactMatch Orphanet:1344

[Term]
id: MONDO:0015282
name: cardiomyopathy-cataract-hip spine disease syndrome
def: "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." [Orphanet:1345]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1345"}
synonym: "cardiomyopathy cataract hip spine disease" RELATED [GARD:0001102]
synonym: "familial dilated cardiomyopathy associated with cataracts and hip-spine disease" RELATED [GARD:0001102]
synonym: "Krasnow Qazi syndrome" RELATED [GARD:0001102]
synonym: "Krasnow Qazi Yermakov syndrome" RELATED [GARD:0001102]
synonym: "Krasnow-Qazi syndrome" EXACT [Orphanet:1345]
xref: GARD:0001102 {source="MONDO:equivalentTo"}
xref: MESH:C537616 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1345 {source="GARD:0001102", source="MONDO:equivalentTo"}
xref: SCTID:720609003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C2931548 {source="Orphanet:1345", source="ORDO:1345/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016337 {source="Orphanet:1345"} ! syndrome associated with dilated cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C537616
property_value: exactMatch http://identifiers.org/snomedct/720609003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931548
property_value: exactMatch Orphanet:1345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease xsd:anyURI {source="GARD:0001102"}

[Term]
id: MONDO:0015283
name: maternally-inherited cardiomyopathy and hearing loss
def: "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." [Orphanet:1349]
subset: ordo_malformation_syndrome {source="Orphanet:1349"}
synonym: "maternally-inherited cardiomyopathy and deafness" EXACT [Orphanet:1349]
synonym: "tRNA-LYS-related cardiomyopathy-hearing loss syndrome" EXACT [Orphanet:1349]
xref: ICD10:I42.8 {source="ORDO:1349/attributed", source="ORDO:1349/ntbt", source="Orphanet:1349"}
xref: Orphanet:1349 {source="MONDO:equivalentTo"}
xref: UMLS:CN199218 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016327 {source="Orphanet:1349"} ! mitochondrial disease with hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199218
property_value: exactMatch Orphanet:1349

[Term]
id: MONDO:0015284
name: heart-hand syndrome type 2
def: "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." [Orphanet:1350]
subset: ordo_malformation_syndrome {source="Orphanet:1350"}
synonym: "atriodigital dysplasia type 2" EXACT [Orphanet:1350]
synonym: "heart-hand syndrome 2" RELATED [GARD:0009847]
synonym: "Tabatznik syndrome" EXACT [Orphanet:1350]
xref: GARD:0009847 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.2 {source="ORDO:1350/attributed", source="ORDO:1350/ntbt", source="Orphanet:1350"}
xref: MESH:C536784 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1350 {source="MONDO:equivalentTo"}
xref: SCTID:721010003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2931323 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:1350"}
is_a: MONDO:0015110 {source="Orphanet:1350"} ! genetic cardiac rhythm disease
is_a: MONDO:0016432 {source="Orphanet:1350"} ! heart-hand syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1350"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536784
property_value: exactMatch http://identifiers.org/snomedct/721010003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931323
property_value: exactMatch Orphanet:1350

[Term]
id: MONDO:0015285
name: Carney complex
def: "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." [Orphanet:1359]
subset: ordo_disease {source="Orphanet:1359"}
synonym: "atrial myxoma with lentigines" EXACT [NCIT:C4705]
synonym: "Carney complex variant" EXACT EXCLUDE [DOID:0050471]
synonym: "Carney Complex, type 1" NARROW [DOID:0050471]
synonym: "Carney Complex, type 2" NARROW [DOID:0050471]
synonym: "Carney syndrome" EXACT [DOID:0050471, Orphanet:1359]
synonym: "Carney's syndrome" EXACT [NCIT:C4705]
synonym: "CNC" EXACT [NCIT:C4705]
synonym: "lamb" EXACT [NCIT:C4705]
synonym: "lamb syndrome" EXACT [DOID:0050471]
synonym: "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome" EXACT [NCIT:C4705]
synonym: "Myxoma - spotty pigmentation - endocrine overactivity" RELATED [GARD:0001119]
synonym: "Myxoma-spotty pigmentation-endocrine overactivity syndrome" EXACT [Orphanet:1359]
synonym: "NAME syndrome" EXACT [DOID:0050471]
synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [NCIT:C4705]
xref: DOID:0050471 {source="MONDO:equivalentTo"}
xref: GARD:0001119 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D44.8 {source="MONDO:relatedTo", source="ORDO:1359/attributed", source="ORDO:1359/ntbt", source="Orphanet:1359"}
xref: MESH:D056733 {source="MONDO:equivalentTo", source="ORDO:1359/e", source="Orphanet:1359", source="DOID:0050471"}
xref: NCIT:C4705 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.69/0.86", source="DOID:0050471"}
xref: Orphanet:1359 {source="MONDO:equivalentTo", source="DOID:0050471"}
xref: SCTID:733491005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406810 {source="NCIT:C4705", source="MONDO:equivalentTo", source="ORDO:1359/e", source="Orphanet:1359", source="DOID:0050471"}
is_a: MONDO:0000426 {source="DOID:0050471", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0017820 {source="Orphanet:1359"} ! disease with Cushing syndrome as a major feature
relationship: disease_has_feature MONDO:0015077 {source="Orphanet:1359"} ! adrenal/paraganglial tumor
relationship: disease_has_feature MONDO:0015079 {source="Orphanet:1359"} ! multiple polyglandular tumor
relationship: disease_has_feature MONDO:0017129 {source="Orphanet:1359"} ! inherited cardiac tumor
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:1359"} ! hyperpigmentation of the skin
relationship: disease_has_feature MONDO:0020178 {source="Orphanet:1359"} ! palpebral lentiginosis
relationship: disease_has_feature MONDO:0020181 {source="Orphanet:1359"} ! mesenchymatous palpebral tumor
property_value: closeMatch http://identifiers.org/snomedct/239132009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854540
property_value: exactMatch DOID:0050471
property_value: exactMatch http://identifiers.org/mesh/D056733
property_value: exactMatch http://identifiers.org/snomedct/733491005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2607929
property_value: exactMatch NCIT:C4705
property_value: exactMatch Orphanet:1359

[Term]
id: MONDO:0015286
name: congenital disorder of glycosylation
def: "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (see these terms)." [Orphanet:137]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:137"}
synonym: "carbohydrate deficient glycoprotein syndrome" EXACT [Orphanet:137]
synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [DOID:5212]
synonym: "carbohydrate-deficient glycoprotein syndromes" RELATED [GARD:0010307]
synonym: "CDG" EXACT [Orphanet:137]
synonym: "congenital disorders of glycosylation" RELATED [GARD:0010307]
xref: DOID:5212 {source="MONDO:equivalentTo"}
xref: GARD:0010307 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E77.8 {source="Orphanet:137", source="ORDO:137/attributed", source="ORDO:137/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018981 {source="DOID:5212", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84615 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: OMIMPS:212065 {source="DOID:5212"}
xref: Orphanet:137 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: SCTID:238049009 {source="DOID:5212", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282577 {source="DOID:5212", source="Orphanet:137", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:137/e"}
is_a: MONDO:0019214 {source="DOID:5212", source="MESH:D018981", source="MONDO:Redundant", source="NCIT:C84615"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0024322 ! disorder of glycosylation
property_value: exactMatch DOID:5212
property_value: exactMatch http://identifiers.org/mesh/D018981
property_value: exactMatch http://identifiers.org/snomedct/238049009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282577
property_value: exactMatch NCIT:C84615
property_value: exactMatch Orphanet:137

[Term]
id: MONDO:0015287
name: obsolete vulvar intraepithelial neoplasia
is_obsolete: true
replaced_by: MONDO:0005198

[Term]
id: MONDO:0015288
name: herpes simplex virus keratitis
def: "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" [MESH:D016849]
subset: ordo_group_of_disorders {source="Orphanet:137586"}
synonym: "dendritic keratitis" EXACT [DOID:0080158]
synonym: "herpetic keratitis" EXACT [Orphanet:137586]
synonym: "HSV keratitis" EXACT [Orphanet:137586]
synonym: "Simplexvirus caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus keratitis" EXACT []
xref: DOID:0080158 {source="MONDO:equivalentTo"}
xref: EFO:0007308 {source="MONDO:equivalentTo"}
xref: ICD10:B00.5+ {source="Orphanet:137586", source="ORDO:137586/e"}
xref: ICD10:H19.1* {source="Orphanet:137586", source="ORDO:137586/e"}
xref: NCIT:C34743 {source="MONDO:equivalentTo"}
xref: Orphanet:137586 {source="MONDO:equivalentTo"}
xref: SCTID:9389005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.52"}
xref: UMLS:C0019357 {source="MEDGEN:kboom-pr96-c98", source="Orphanet:137586", source="MONDO:equivalentTo"}
xref: UMLS:C0022570 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0004609 ! herpes simplex infectious disease
is_a: MONDO:0020950 ! viral eye infection
is_a: MONDO:0023865 ! corneal infection
property_value: closeMatch DOID:9195
property_value: closeMatch http://identifiers.org/mesh/D007635
property_value: closeMatch http://identifiers.org/mesh/D016849
property_value: exactMatch DOID:0080158
property_value: exactMatch http://identifiers.org/snomedct/9389005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022570
property_value: exactMatch NCIT:C34743
property_value: exactMatch Orphanet:137586

[Term]
id: MONDO:0015289
name: infectious epithelial keratitis
def: "Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent." [Orphanet:137593]
subset: ordo_disease {source="Orphanet:137593"}
xref: Orphanet:137593 {source="MONDO:equivalentTo"}
is_a: MONDO:0020950 {source="MONDO:cjm"} ! viral eye infection
is_a: MONDO:0023865 ! corneal infection
relationship: excluded_subClassOf MONDO:0015288 {source="Orphanet:137593"} ! herpes simplex virus keratitis
property_value: exactMatch Orphanet:137593

[Term]
id: MONDO:0015290
name: neurotrophic keratopathy
def: "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." [Orphanet:137596]
subset: ordo_disease {source="Orphanet:137596"}
synonym: "neurotrophic keratitis" EXACT [Orphanet:137596]
xref: ICD10:H16.2 {source="MONDO:relatedTo", source="ORDO:137596/ntbt", source="Orphanet:137596"}
xref: MedDRA:10069732 {source="Orphanet:137596", source="ORDO:137596/e"}
xref: Orphanet:137596 {source="MONDO:equivalentTo"}
xref: SCTID:128080005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339296 {source="MONDO:equivalentTo", source="Orphanet:137596", source="ORDO:137596/e"}
is_a: MONDO:0015937 {source="Orphanet:137596"} ! rare inflammatory eye disease
property_value: exactMatch http://identifiers.org/meddra/10069732
property_value: exactMatch http://identifiers.org/snomedct/128080005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339296
property_value: exactMatch Orphanet:137596

[Term]
id: MONDO:0015291
name: stromal keratitis
def: "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." [Orphanet:137599]
subset: ordo_disease {source="Orphanet:137599"}
xref: ICD10:H16.3 {source="Orphanet:137599", source="ORDO:137599/ntbt"}
xref: Orphanet:137599 {source="MONDO:equivalentTo"}
xref: UMLS:C1318020 {source="ORDO:137599/e", source="Orphanet:137599", source="MONDO:equivalentTo"}
is_a: MONDO:0015288 {source="Orphanet:137599"} ! herpes simplex virus keratitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318020
property_value: exactMatch Orphanet:137599

[Term]
id: MONDO:0015292
name: endotheliitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the endothelium." [MONDO:patterns/inflammatory_disease_by_site]
subset: ordo_disease {source="Orphanet:137602"}
synonym: "endothelium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endothelium" EXACT []
xref: Orphanet:137602 {source="MONDO:equivalentTo"}
is_a: MONDO:0015288 {source="Orphanet:137602"} ! herpes simplex virus keratitis
property_value: exactMatch Orphanet:137602

[Term]
id: MONDO:0015293
name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
def: "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." [Orphanet:137608]
subset: ordo_malformation_syndrome {source="Orphanet:137608"}
synonym: "SOLAMEN syndrome" EXACT [Orphanet:137608]
xref: Orphanet:137608 {source="MONDO:equivalentTo"}
xref: SCTID:763867001 {source="MONDO:equivalentTo"}
xref: UMLS:CN199243 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0005073 {source="Orphanet:137608"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:137608", source="indirect"} ! inherited skin tumor
is_a: MONDO:0016235 {source="Orphanet:137608"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0017623 {source="Orphanet:137608"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019716 {source="Orphanet:137608"} ! overgrowth syndrome
property_value: exactMatch http://identifiers.org/snomedct/763867001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199243
property_value: exactMatch Orphanet:137608

[Term]
id: MONDO:0015294
name: nephrogenic systemic fibrosis
def: "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." [Orphanet:137617]
subset: gard_rare {source="GARD:0009725"}
subset: ordo_disease {source="Orphanet:137617"}
synonym: "nephrogenic fibrosing dermopathy" EXACT [Orphanet:137617]
synonym: "NFD" RELATED [GARD:0009725]
synonym: "NSF" RELATED [GARD:0009725]
xref: EFO:1001814 {source="MONDO:equivalentTo"}
xref: GARD:0009725 {source="MONDO:equivalentTo"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10067467 {source="Orphanet:137617", source="ORDO:137617/e"}
xref: MESH:D054989 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84920 {source="MONDO:equivalentTo"}
xref: Orphanet:137617 {source="MONDO:equivalentTo"}
xref: SCTID:424114000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1619692 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:137617", source="ORDO:137617/e"}
xref: UMLS:C3888044 {source="MONDO:equivalentTo", source="Orphanet:137617"}
is_a: MONDO:0019546 {source="Orphanet:137617"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/meddra/10067467
property_value: exactMatch http://identifiers.org/mesh/D054989
property_value: exactMatch http://identifiers.org/snomedct/424114000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1619692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888044
property_value: exactMatch NCIT:C84920
property_value: exactMatch Orphanet:137617
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis xsd:anyURI {source="GARD:0009725"}

[Term]
id: MONDO:0015295
name: intractable diarrhea-choanal atresia-eye anomalies syndrome
def: "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." [Orphanet:137622]
subset: ordo_malformation_syndrome {source="Orphanet:137622"}
xref: ICD10:Q87.8 {source="Orphanet:137622", source="ORDO:137622/attributed", source="ORDO:137622/ntbt"}
xref: Orphanet:137622 {source="MONDO:equivalentTo"}
xref: UMLS:CN226653 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:137622"} ! nose and cavum anomaly
is_a: MONDO:0018562 {source="Orphanet:137622", source="Orphanet:137622/inferred"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0019126 {source="Orphanet:137622"} ! intractable diarrhea of infancy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226653
property_value: exactMatch Orphanet:137622

[Term]
id: MONDO:0015296
name: cardiac anomalies-heterotaxy syndrome
def: "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." [Orphanet:137628]
subset: ordo_malformation_syndrome {source="Orphanet:137628"}
xref: ICD10:Q28.8 {source="ORDO:137628/attributed", source="ORDO:137628/ntbt", source="Orphanet:137628"}
xref: Orphanet:137628 {source="MONDO:equivalentTo"}
xref: UMLS:CN199246 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015506 {source="Orphanet:137628"} ! rare syndrome with cardiac malformations
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199246
property_value: exactMatch Orphanet:137628

[Term]
id: MONDO:0015297
name: microcephaly-digital anomalies-intellectual disability syndrome
def: ", syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit." [Orphanet:137653]
subset: ordo_malformation_syndrome {source="Orphanet:137653"}
synonym: "Kelly-Kirson-Wyatt syndrome" EXACT [Orphanet:137653]
xref: ICD10:Q87.8 {source="Orphanet:137653", source="ORDO:137653/attributed", source="ORDO:137653/ntbt"}
xref: Orphanet:137653 {source="MONDO:equivalentTo"}
xref: UMLS:CN199250 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015159 {source="Orphanet:137653"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:137653"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199250
property_value: exactMatch Orphanet:137653

[Term]
id: MONDO:0015298
name: pellucid marginal degeneration
subset: gard_rare {source="GARD:0011895"}
subset: ordo_disease {source="Orphanet:137672"}
xref: GARD:0011895 {source="MONDO:equivalentTo"}
xref: ICD10:H18.7 {source="ORDO:137672/ntbt", source="Orphanet:137672"}
xref: Orphanet:137672 {source="MONDO:equivalentTo"}
xref: UMLS:CN199253 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 ! corneal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199253
property_value: exactMatch Orphanet:137672
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration xsd:anyURI {source="GARD:0011895"}

[Term]
id: MONDO:0015299
name: Asherman syndrome
subset: gard_rare
subset: ordo_disease {source="Orphanet:137686"}
synonym: "Asherman syndrome" EXACT [GARD:0005853]
synonym: "Asherman's syndrome" RELATED [GARD:0005853]
synonym: "intrauterine adhesions" EXACT [Orphanet:137686]
synonym: "intrauterine synechiae" EXACT [Orphanet:137686]
synonym: "uterine synechiae" RELATED [GARD:0005853]
xref: GARD:0005853 {source="MONDO:equivalentTo"}
xref: ICD10:N85.6 {source="Orphanet:137686", source="ORDO:137686/e"}
xref: MedDRA:10022821 {source="Orphanet:137686", source="ORDO:137686/e"}
xref: MedDRA:10053868 {source="Orphanet:137686", source="ORDO:137686/e"}
xref: Orphanet:137686 {source="MONDO:equivalentTo"}
xref: SCTID:48236007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.54"}
xref: UMLS:C0156372 {source="Orphanet:137686", source="ORDO:137686/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015859 {source="Orphanet:137686"} ! rare non-malformative uterovaginal or vulvovaginal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0241593
property_value: exactMatch http://identifiers.org/meddra/10022821
property_value: exactMatch http://identifiers.org/meddra/10053868
property_value: exactMatch http://identifiers.org/snomedct/48236007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704274
property_value: exactMatch Orphanet:137686

[Term]
id: MONDO:0015300
name: cataract - microcornea syndrome
def: "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism." [Orphanet:1377]
subset: gard_rare {source="GARD:0001155"}
subset: ordo_malformation_syndrome {source="Orphanet:1377"}
synonym: "cataract microcornea syndrome" RELATED [GARD:0001155]
synonym: "microcornea cataract syndrome" RELATED [GARD:0001155]
xref: GARD:0001155 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="Orphanet:1377", source="ORDO:1377/attributed", source="ORDO:1377/ntbt"}
xref: MESH:C538287 {source="ORDO:1377/e", source="Orphanet:1377", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1377 {source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="MONDO:cjm"} ! syndromic developmental defect of the eye
is_a: MONDO:0020225 {source="Orphanet:1377"} ! syndromic cataract
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1377"} ! non-syndromic developmental defect of the eye
property_value: closeMatch http://identifiers.org/omim/116150
property_value: exactMatch http://identifiers.org/mesh/C538287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861829
property_value: exactMatch Orphanet:1377
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome xsd:anyURI {source="GARD:0001155"}

[Term]
id: MONDO:0015301
name: primary cutaneous amyloidosis
def: "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms)." [Orphanet:137807]
subset: ordo_group_of_disorders {source="Orphanet:137807"}
synonym: "amyloidosis, primary localized cutaneous" RELATED [OMIMPS:105250]
synonym: "familial primary localized cutaneous amyloidosis" NARROW [DOID:0050639]
synonym: "PCA" EXACT EXCLUDE [DOID:0050639]
synonym: "PLCA" EXACT [Orphanet:137807]
synonym: "primary localized cutaneous amyloidosis" EXACT [Orphanet:137807]
xref: DOID:0050639 {source="MONDO:equivalentTo"}
xref: ICD10:E85.4+ {source="ORDO:137807/e", source="Orphanet:137807"}
xref: ICD10:L99.0* {source="ORDO:137807/e", source="Orphanet:137807"}
xref: MedDRA:10011659 {source="ORDO:137807/e", source="Orphanet:137807"}
xref: MESH:C562642 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:105250 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:137807 {source="MONDO:equivalentTo", source="DOID:0050639"}
xref: SCTID:282834007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.44"}
xref: UMLS:C0268397 {source="MONDO:equivalentTo", source="ORDO:137807/e", source="Orphanet:137807"}
is_a: MONDO:0019065 {source="DOID:0050639", source="MESH:C562642/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease)
is_a: MONDO:0021154 {source="Orphanet:137807"} ! dermis disease
property_value: exactMatch DOID:0050639
property_value: exactMatch http://identifiers.org/meddra/10011659
property_value: exactMatch http://identifiers.org/mesh/C562642
property_value: exactMatch http://identifiers.org/snomedct/282834007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268397
property_value: exactMatch Orphanet:137807

[Term]
id: MONDO:0015302
name: nodular cutaneous amyloidosis
def: "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome (see these terms)." [Orphanet:137810]
subset: ordo_disease {source="Orphanet:137810"}
synonym: "PLCNA" EXACT [Orphanet:137810]
synonym: "primary localized cutaneous nodular amyloidosis" EXACT [Orphanet:137810]
xref: ICD10:E85.4+ {source="Orphanet:137810", source="ORDO:137810/ntbt"}
xref: ICD10:L99.0* {source="Orphanet:137810", source="ORDO:137810/ntbt"}
xref: MedDRA:10056953 {source="ORDO:137810/e", source="Orphanet:137810"}
xref: Orphanet:137810 {source="MONDO:equivalentTo"}
xref: SCTID:716704007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0546394 {source="ORDO:137810/e", source="Orphanet:137810", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4274331 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
is_a: MONDO:0015301 {source="Orphanet:137810", source="linkedlifedata", source="linkedlifedata/inferred"} ! primary cutaneous amyloidosis
property_value: exactMatch http://identifiers.org/meddra/10056953
property_value: exactMatch http://identifiers.org/snomedct/716704007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274331
property_value: exactMatch Orphanet:137810

[Term]
id: MONDO:0015303
name: macular amyloidosis
def: "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." [Orphanet:137814]
subset: ordo_disease {source="Orphanet:137814"}
xref: ICD10:E85.4+ {source="ORDO:137814/ntbt", source="Orphanet:137814"}
xref: ICD10:L99.0* {source="ORDO:137814/ntbt", source="Orphanet:137814"}
xref: Orphanet:137814 {source="MONDO:equivalentTo"}
xref: UMLS:C0544839 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015301 {source="Orphanet:137814"} ! primary cutaneous amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0544839
property_value: exactMatch Orphanet:137814

[Term]
id: MONDO:0015304
name: arachnoiditis
def: "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems." [Orphanet:137817]
subset: ordo_disease {source="Orphanet:137817"}
synonym: "adhesive arachnoiditis" EXACT [Orphanet:137817]
synonym: "arachnoid mater inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chronic arachnoiditis" EXACT [Orphanet:137817]
synonym: "inflammation of arachnoid mater" EXACT []
xref: DOID:12156 {source="MONDO:equivalentTo"}
xref: GARD:0005839 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G03 {source="DOID:12156"}
xref: ICD10:G03.9 {source="ORDO:137817/ntbt", source="Orphanet:137817"}
xref: MedDRA:10003074 {source="Orphanet:137817", source="ORDO:137817/e"}
xref: MESH:D001100 {source="MONDO:equivalentTo", source="Orphanet:137817", source="MONDO:ontobio", source="ORDO:137817/e", source="DOID:12156"}
xref: NCIT:C37913 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12156"}
xref: Orphanet:137817 {source="MONDO:equivalentTo"}
xref: SCTID:13980006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.69/0.23"}
xref: UMLS:C0003708 {source="MONDO:equivalentTo", source="Orphanet:137817", source="ORDO:137817/e", source="NCIT:C37913", source="DOID:12156"}
xref: UMLS:C0270617 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:137817"}
is_a: MONDO:0004796 {source="DOID:12156", source="MESH:D001100"} ! infectious meningitis
property_value: closeMatch http://identifiers.org/snomedct/154986008
property_value: closeMatch http://identifiers.org/snomedct/267681007
property_value: closeMatch http://identifiers.org/snomedct/8217007
property_value: exactMatch DOID:12156
property_value: exactMatch http://identifiers.org/meddra/10003074
property_value: exactMatch http://identifiers.org/mesh/D001100
property_value: exactMatch http://identifiers.org/snomedct/13980006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003708
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270617
property_value: exactMatch NCIT:C37913
property_value: exactMatch Orphanet:137817

[Term]
id: MONDO:0015305
name: obsolete rare endometriosis
def: "Rare endometriosis." []
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:137820"}
synonym: "endometriosis outside pelvis" EXACT [Orphanet:137820]
synonym: "extrapelvic endometriosis" RELATED [Orphanet:137820]
synonym: "rare endometriosis" EXACT []
synonym: "rare endometriosis (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:137820 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:237117005 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0404545 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://identifiers.org/snomedct/237117005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0404545
property_value: exactMatch Orphanet:137820
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005133
consider: ICD10:N80.0 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.1 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.2 {source="Orphanet:137820", source="ORDO:137820/btnt"}
consider: ICD10:N80.3 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.4 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.5 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.6 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"}
consider: ICD10:N80.8 {source="Orphanet:137820", source="ORDO:137820/btnt"}
consider: ICD10:N80.9 {source="Orphanet:137820", source="ORDO:137820/btnt"}
consider: UMLS:C0014175 {source="Orphanet:137820"}

[Term]
id: MONDO:0015306
name: Lemierre syndrome
def: "and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." [Orphanet:137839]
subset: gard_rare {source="GARD:0006882"}
subset: ordo_disease {source="Orphanet:137839"}
synonym: "acute sore throat" RELATED [DOID:11337]
synonym: "human necrobacillosis" EXACT [DOID:11337]
synonym: "Lemierre postanginal sepsis" EXACT [Orphanet:137839]
synonym: "Lemierre syndrome" EXACT [DOID:11337]
synonym: "Lemierre's syndrome" RELATED [DOID:11337]
synonym: "necrobacillosis" RELATED [GARD:0006882]
synonym: "oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein" RELATED [GARD:0006882]
synonym: "postanginal sepsis" EXACT [DOID:11337]
synonym: "postanginal sepsis secondary to orophyngeal infection" EXACT [Orphanet:137839]
synonym: "septic phlebitis of the internal jugular vein" EXACT [Orphanet:137839]
xref: DOID:11337 {source="MONDO:equivalentTo"}
xref: GARD:0006882 {source="MONDO:equivalentTo"}
xref: ICD10:I80.8 {source="ORDO:137839/ntbt", source="Orphanet:137839"}
xref: ICD9:040.3 {source="DOID:11337", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10065552 {source="Orphanet:137839", source="ORDO:137839/e"}
xref: MESH:D057831 {source="MONDO:equivalentTo", source="Orphanet:137839", source="MONDO:ontobio", source="ORDO:137839/e"}
xref: Orphanet:137839 {source="MONDO:equivalentTo"}
xref: SCTID:52542005 {source="DOID:11337", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.65"}
is_a: MONDO:0000315 {source="DOID:11337"} ! commensal bacterial infectious disease
is_a: MONDO:0005229 ! bacterial infectious disease with sepsis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D005674
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027537
property_value: exactMatch DOID:11337
property_value: exactMatch http://identifiers.org/meddra/10065552
property_value: exactMatch http://identifiers.org/mesh/D057831
property_value: exactMatch http://identifiers.org/snomedct/52542005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343525
property_value: exactMatch Orphanet:137839
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome xsd:anyURI {source="GARD:0006882"}

[Term]
id: MONDO:0015307
name: Madras motor neuron disease
def: "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." [Orphanet:137867]
subset: ordo_disease {source="Orphanet:137867"}
synonym: "MMND" EXACT [Orphanet:137867]
xref: GARD:0010742 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:137867/attributed", source="ORDO:137867/ntbt", source="Orphanet:137867"}
xref: Orphanet:137867 {source="MONDO:equivalentTo"}
xref: UMLS:C0393551 {source="ORDO:137867/e", source="MONDO:equivalentTo", source="Orphanet:137867"}
is_a: MONDO:0020128 {source="Orphanet:137867", source="Orphanet:137867/inferred"} ! motor neuron disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393551
property_value: exactMatch Orphanet:137867

[Term]
id: MONDO:0015308
name: laminopathy type Decaudain-Vigouroux
def: "Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." [Orphanet:137871]
subset: ordo_disease {source="Orphanet:137871"}
synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [Orphanet:137871]
xref: ICD10:E88.8 {source="ORDO:137871/attributed", source="ORDO:137871/ntbt", source="Orphanet:137871"}
xref: Orphanet:137871 {source="MONDO:equivalentTo"}
xref: SCTID:724205009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518324 {source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:137871"} ! rare insulin-resistance syndrome
is_a: MONDO:0021187 {source="Orphanet:137871"} ! hyperlipidemia (disease)
property_value: exactMatch http://identifiers.org/snomedct/724205009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518324
property_value: exactMatch Orphanet:137871

[Term]
id: MONDO:0015309
name: obsolete Auriculocondylar syndrome
is_obsolete: true
replaced_by: MONDO:0000107

[Term]
id: MONDO:0015310
name: syndromic optic nerve hypoplasia
subset: ordo_group_of_disorders {source="Orphanet:137905"}
xref: Orphanet:137905 {source="MONDO:equivalentTo"}
xref: UMLS:CN226655 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020249 {source="Orphanet:137905"} ! hereditary optic neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226655
property_value: exactMatch Orphanet:137905

[Term]
id: MONDO:0015311
name: autism-facial port-wine stain syndrome
def: "This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions." [Orphanet:137911]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:137911"}
synonym: "autism with port-wine stain" RELATED [GARD:0010303]
xref: GARD:0010303 {source="MONDO:equivalentTo"}
xref: Orphanet:137911 {source="MONDO:equivalentTo", source="GARD:0010303"}
xref: UMLS:CN199278 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0015311"} ! syndromic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199278
property_value: exactMatch Orphanet:137911
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain xsd:anyURI {source="GARD:0010303"}

[Term]
id: MONDO:0015312
name: choanal atresia, unilateral
def: "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." [Orphanet:137917]
subset: ordo_clinical_subtype {source="Orphanet:137917"}
xref: ICD10:Q30.0 {source="MONDO:subClassOf", source="ORDO:137917/ntbt", source="Orphanet:137917"}
xref: Orphanet:137917 {source="MONDO:equivalentTo"}
xref: UMLS:CN199280 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012155 {source="Orphanet:137917"} ! choanal atresia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199280
property_value: exactMatch Orphanet:137917

[Term]
id: MONDO:0015313
name: choanal atresia, bilateral
def: "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." [Orphanet:137920]
subset: ordo_clinical_subtype {source="Orphanet:137920"}
xref: ICD10:Q30.0 {source="MONDO:subClassOf", source="Orphanet:137920", source="ORDO:137920/ntbt"}
xref: Orphanet:137920 {source="MONDO:equivalentTo"}
xref: UMLS:CN199281 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012155 {source="Orphanet:137920"} ! choanal atresia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199281
property_value: exactMatch Orphanet:137920

[Term]
id: MONDO:0015314
name: primary laryngeal lymphangioma
def: "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." [Orphanet:137926]
subset: ordo_malformation_syndrome {source="Orphanet:137926"}
xref: ICD10:D18.1 {source="ORDO:137926/ntbt", source="Orphanet:137926"}
xref: Orphanet:137926 {source="MONDO:equivalentTo"}
xref: SCTID:763617006 {source="MONDO:equivalentTo"}
is_a: MONDO:0015504 {source="Orphanet:137926"} ! larynx anomaly
property_value: exactMatch http://identifiers.org/snomedct/763617006
property_value: exactMatch Orphanet:137926

[Term]
id: MONDO:0015315
name: neonatal brainstem dysfunction
def: "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported." [Orphanet:137929]
subset: ordo_disease {source="Orphanet:137929"}
xref: Orphanet:137929 {source="MONDO:equivalentTo"}
xref: UMLS:CN199283 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:137929"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199283
property_value: exactMatch Orphanet:137929

[Term]
id: MONDO:0015316
name: congenital laryngeal palsy
def: "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." [Orphanet:137932]
subset: gard_rare {source="GARD:0012713"}
subset: ordo_malformation_syndrome {source="Orphanet:137932"}
synonym: "congenital vocal cord paralysis" EXACT [Orphanet:137932]
xref: GARD:0012713 {source="MONDO:equivalentTo"}
xref: ICD10:J38.0 {source="Orphanet:137932", source="ORDO:137932/ntbt"}
xref: Orphanet:137932 {source="MONDO:equivalentTo"}
xref: UMLS:C0396058 {source="Orphanet:137932", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015504 {source="Orphanet:137932"} ! larynx anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0396058
property_value: exactMatch Orphanet:137932
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy xsd:anyURI {source="GARD:0012713"}

[Term]
id: MONDO:0015317
name: laryngotracheal angioma
subset: ordo_disease {source="Orphanet:137935"}
xref: ICD10:D18.0 {source="ORDO:137935/ntbt", source="Orphanet:137935"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:137935 {source="MONDO:equivalentTo"}
xref: SCTID:703199001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C3839574 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0015504 {source="Orphanet:137935"} ! larynx anomaly
is_a: MONDO:0016223 {source="Orphanet:137935"} ! infantile hemangioma of rare localization
property_value: exactMatch http://identifiers.org/snomedct/703199001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839574
property_value: exactMatch Orphanet:137935

[Term]
id: MONDO:0015318
name: Pierre Robin syndrome associated with collagen disease
subset: ordo_group_of_disorders {source="Orphanet:138041"}
synonym: "Pierre Robin sequence associated with collagen disease" EXACT [Orphanet:138041]
xref: Orphanet:138041 {source="MONDO:equivalentTo"}
xref: UMLS:CN199289 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015319 {source="Orphanet:138041"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0018187 {source="Orphanet:138041"} ! genetic syndromic Pierre Robin syndrome
relationship: disease_has_feature MONDO:0004603 ! collagenopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199289
property_value: exactMatch Orphanet:138041

[Term]
id: MONDO:0015319
name: rare disease with Pierre Robin syndrome
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:138044"}
xref: Orphanet:138044 {source="MONDO:equivalentTo"}
xref: UMLS:CN199290 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015501 {source="Orphanet:138044"} ! syndrome or malformation associated with head and neck malformations
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199290
property_value: exactMatch Orphanet:138044
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015320
name: Pierre Robin syndrome associated with a chromosomal anomaly
subset: ordo_group_of_disorders {source="Orphanet:138047"}
synonym: "Pierre Robin sequence associated with a chromosomal anomaly" EXACT [Orphanet:138047]
xref: Orphanet:138047 {source="MONDO:equivalentTo"}
xref: UMLS:CN199291 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015319 {source="Orphanet:138047"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0018187 {source="Orphanet:138047"} ! genetic syndromic Pierre Robin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199291
property_value: exactMatch Orphanet:138047

[Term]
id: MONDO:0015321
name: Pierre Robin syndrome associated with branchial archs anomalies
subset: ordo_group_of_disorders {source="Orphanet:138050"}
synonym: "Pierre Robin sequence associated with branchial archs anomalies" EXACT [Orphanet:138050]
xref: Orphanet:138050 {source="MONDO:equivalentTo"}
xref: UMLS:CN199292 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015319 {source="Orphanet:138050"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0018187 {source="Orphanet:138050"} ! genetic syndromic Pierre Robin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199292
property_value: exactMatch Orphanet:138050

[Term]
id: MONDO:0015322
name: Pierre Robin syndrome associated with bone disease
subset: ordo_group_of_disorders {source="Orphanet:138055"}
synonym: "Pierre Robin sequence associated with bone disease" EXACT [Orphanet:138055]
xref: Orphanet:138055 {source="MONDO:equivalentTo"}
xref: UMLS:CN199293 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015319 {source="Orphanet:138055"} ! rare disease with Pierre Robin syndrome
is_a: MONDO:0018187 {source="Orphanet:138055"} ! genetic syndromic Pierre Robin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199293
property_value: exactMatch Orphanet:138055

[Term]
id: MONDO:0015323
name: teratogenic Pierre Robin syndrome
subset: ordo_group_of_disorders {source="Orphanet:138059"}
synonym: "teratogenic Pierre Robin sequence" EXACT [Orphanet:138059]
xref: Orphanet:138059 {source="MONDO:equivalentTo"}
xref: UMLS:CN199294 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015319 {source="Orphanet:138059"} ! rare disease with Pierre Robin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199294
property_value: exactMatch Orphanet:138059

[Term]
id: MONDO:0015324
name: cataract-intellectual disability-anal atresia-urinary defects syndrome
def: "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." [Orphanet:1381]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1381"}
synonym: "cataract mental retardation anal atresia urinary defects" RELATED [GARD:0000192]
synonym: "congenital cataract with multiple congenital anomalies in a sibship" RELATED [GARD:0000192]
synonym: "Karandikar Maria Kamble syndrome" RELATED [GARD:0000192]
synonym: "Karandikar-Maria-Kamble syndrome" EXACT [Orphanet:1381]
xref: GARD:0000192 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:1381", source="ORDO:1381/attributed", source="ORDO:1381/ntbt"}
xref: MESH:C537009 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1381 {source="MONDO:equivalentTo"}
xref: SCTID:715989002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:C2931391 {source="MONDO:equivalentTo", source="GARD:0000192", source="Orphanet:1381"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1381", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1381"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:1381"} ! syndromic developmental defect of the eye
is_a: MONDO:0015246 {source="Orphanet:1381"} ! syndromic anorectal malformation
is_a: MONDO:0020225 {source="Orphanet:1381"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C537009
property_value: exactMatch http://identifiers.org/snomedct/715989002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931391
property_value: exactMatch Orphanet:1381

[Term]
id: MONDO:0015325
name: cataract-deafness-hypogonadism syndrome
def: "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." [Orphanet:1383]
subset: ordo_malformation_syndrome {source="Orphanet:1383"}
synonym: "Schaap-Taylor-Baraitser syndrome" EXACT [Orphanet:1383]
xref: ICD10:Q87.8 {source="ORDO:1383/attributed", source="ORDO:1383/ntbt", source="Orphanet:1383"}
xref: MESH:C536626 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1383 {source="MONDO:equivalentTo"}
xref: SCTID:722378009 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1383", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1383"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019589 {source="Orphanet:1383"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931269
property_value: exactMatch http://identifiers.org/mesh/C536626
property_value: exactMatch http://identifiers.org/snomedct/722378009
property_value: exactMatch Orphanet:1383

[Term]
id: MONDO:0015326
name: night blindness-skeletal anomalies-dysmorphism syndrome
def: "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." [Orphanet:1390]
subset: gard_rare {source="GARD:0003994"}
subset: ordo_malformation_syndrome {source="Orphanet:1390"}
synonym: "Hunter Thompson Reed syndrome" RELATED [GARD:0003994]
synonym: "Hunter-Thompson-Reed syndrome" EXACT [Orphanet:1390]
xref: GARD:0003994 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1390/attributed", source="ORDO:1390/ntbt", source="Orphanet:1390"}
xref: Orphanet:1390 {source="MONDO:equivalentTo"}
xref: UMLS:CN199356 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0043008 {source="Orphanet:1390"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199356
property_value: exactMatch Orphanet:1390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome xsd:anyURI {source="GARD:0003994"}

[Term]
id: MONDO:0015327
name: developmental anomaly of metabolic origin
subset: ordo_group_of_disorders {source="Orphanet:139009"}
xref: Orphanet:139009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0019755 {source="MONDO:Redundant", source="Orphanet:139009"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:139009"} ! obsolete rare genetic developmental defect during embryogenesis
property_value: exactMatch Orphanet:139009

[Term]
id: MONDO:0015328
name: obsolete rare bone development disorder
def: "Any of the forms of bone development disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:139012"}
synonym: "bone development disorder" EXACT [NCIT:C34432]
synonym: "rare bone development disease" EXACT [MONDO:DesignPattern, MONDO:patterns/rare]
synonym: "rare skeletal development disorder" EXACT [Orphanet:139012]
xref: NCIT:C34432 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139012 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch NCIT:C34432
property_value: exactMatch Orphanet:139012
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005497
consider: UMLS:C0005941 {source="Orphanet:139012"}

[Term]
id: MONDO:0015329
name: malformation syndrome with short stature
subset: ordo_group_of_disorders {source="Orphanet:139021"}
synonym: "congenital malformation syndrome and short stature" EXACT []
synonym: "congenital malformation syndrome associated with short stature" EXACT []
synonym: "malformation syndrome associated with short stature" EXACT []
xref: Orphanet:139021 {source="MONDO:equivalentTo"}
xref: SCTID:205808005 {source="MONDO:equivalentTo"}
xref: UMLS:CN199359 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139021", source="linkedlifedata"} ! developmental defect during embryogenesis
property_value: exactMatch http://identifiers.org/snomedct/205808005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199359
property_value: exactMatch Orphanet:139021

[Term]
id: MONDO:0015330
name: overgrowth/obesity syndrome
subset: ordo_group_of_disorders {source="Orphanet:139024"}
xref: Orphanet:139024 {source="MONDO:equivalentTo"}
xref: UMLS:CN199360 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139024"} ! developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199360
property_value: exactMatch Orphanet:139024

[Term]
id: MONDO:0015331
name: malformation syndrome with skin/mucosae involvement
subset: ordo_group_of_disorders {source="Orphanet:139027"}
xref: Orphanet:139027 {source="MONDO:equivalentTo"}
xref: UMLS:CN199361 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139027"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:139027"} ! obsolete rare genetic developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199361
property_value: exactMatch Orphanet:139027

[Term]
id: MONDO:0015332
name: rare developmental defect with connective tissue involvement
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:139030"}
xref: Orphanet:139030 {source="MONDO:equivalentTo"}
xref: UMLS:CN199362 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139030"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:139030"} ! obsolete rare genetic developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199362
property_value: exactMatch Orphanet:139030
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015333
name: progeroid syndrome
def: "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." [https://en.wikipedia.org/wiki/Progeroid_syndromes]
subset: ordo_group_of_disorders {source="Orphanet:139033"}
xref: DC:0000583 {source="MONDO:equivalentTo"}
xref: Orphanet:139033 {source="MONDO:equivalentTo"}
xref: UMLS:CN199363 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019303 {source="MONDO:cjm"} ! premature aging syndrome
is_a: MONDO:0019755 {source="Orphanet:139033"} ! developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199363
property_value: exactMatch Orphanet:139033

[Term]
id: MONDO:0015334
name: branchial arch or oral-acral syndrome
subset: ordo_group_of_disorders {source="Orphanet:139036"}
xref: Orphanet:139036 {source="MONDO:equivalentTo"}
xref: UMLS:CN199364 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139036"} ! developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199364
property_value: exactMatch Orphanet:139036

[Term]
id: MONDO:0015335
name: orofacial clefting syndrome
subset: ordo_group_of_disorders {source="Orphanet:139039"}
xref: Orphanet:139039 {source="MONDO:equivalentTo"}
xref: UMLS:CN199365 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015501 {source="Orphanet:139039"} ! syndrome or malformation associated with head and neck malformations
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199365
property_value: exactMatch Orphanet:139039

[Term]
id: MONDO:0015336
name: malformation syndrome with odontal and/or periodontal component
subset: ordo_group_of_disorders {source="Orphanet:139042"}
xref: Orphanet:139042 {source="MONDO:equivalentTo"}
xref: UMLS:CN199366 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:139042"} ! developmental defect during embryogenesis
is_a: MONDO:0020013 {source="Orphanet:139042"} ! rare odontologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199366
property_value: exactMatch Orphanet:139042

[Term]
id: MONDO:0015337
name: isolated craniosynostosis
def: "A craniosynostosis that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:139390"}
synonym: "nonsyndromic craniosynostosis" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:139390", source="ORDO:139390/attributed", source="ORDO:139390/ntbt"}
xref: Orphanet:139390 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDOLEX:0015337", source="Orphanet:139390"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:139390

[Term]
id: MONDO:0015338
name: syndromic craniosynostosis
def: "A craniosynostosis that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:139393"}
synonym: "syndrome associated with craniosynostosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with craniosynostosis" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic craniosynostosis" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:139393 {source="MONDO:equivalentTo"}
xref: UMLS:CN226660 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDOLEX:0015338", source="Orphanet:139393"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226660
property_value: exactMatch Orphanet:139393

[Term]
id: MONDO:0015339
name: adrenomyeloneuropathy
def: "Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." [Orphanet:139399]
subset: ordo_clinical_subtype {source="Orphanet:139399"}
synonym: "AMN" RELATED [GARD:0010614]
xref: GARD:0010614 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.3 {source="ORDO:139399/attributed", source="ORDO:139399/ntbt", source="Orphanet:139399"}
xref: Orphanet:139399 {source="MONDO:equivalentTo"}
xref: SCTID:65389002 {source="MONDO:equivalentTo"}
xref: UMLS:C1527231 {source="MONDO:equivalentTo", source="ORDO:139399/e", source="Orphanet:139399"}
is_a: MONDO:0010247 {source="MONDOLEX:0015339"} ! X-linked cerebral adrenoleukodystrophy
is_a: MONDO:0016133 {source="Orphanet:139399"} ! rare hereditary metabolic disease with peripheral neuropathy
property_value: exactMatch http://identifiers.org/snomedct/65389002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527231
property_value: exactMatch Orphanet:139399

[Term]
id: MONDO:0015340
name: drug rash with eosinophilia and systemic symptoms
def: "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." [Orphanet:139402]
subset: ordo_disease {source="Orphanet:139402"}
synonym: "dress syndrome" EXACT [Orphanet:139402]
synonym: "drug reaction eosinophilic systemic syndrome" EXACT [Orphanet:139402]
xref: MedDRA:10058919 {source="Orphanet:139402", source="ORDO:139402/e"}
xref: MESH:D063926 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:139402 {source="MONDO:equivalentTo"}
xref: SCTID:702809001 {source="MONDO:kboom-pr-1.00/0.78/6.65", source="MONDO:equivalentTo"}
is_a: MONDO:0005492 {source="Orphanet:139402"} ! urticaria (disease)
is_a: MONDO:0017396 {source="Orphanet:139402"} ! toxic dermatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3541994
property_value: exactMatch http://identifiers.org/meddra/10058919
property_value: exactMatch http://identifiers.org/mesh/D063926
property_value: exactMatch http://identifiers.org/snomedct/702809001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1142139
property_value: exactMatch Orphanet:139402

[Term]
id: MONDO:0015341
name: congenital panfollicular nevus (disease)
def: "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." [Orphanet:139414]
subset: ordo_disease {source="Orphanet:139414"}
synonym: "congenital panfollicular nevus" EXACT [MONDO:ambiguous]
xref: HP:0025471 {source="MONDO:otherHierarchy", source="ontobio"}
xref: Orphanet:139414 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="Orphanet:139414"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch Orphanet:139414

[Term]
id: MONDO:0015342
name: acute transverse myelitis
def: "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM; see this term) or secondary to a known cause (SATM; see this term)." [Orphanet:139417]
subset: ordo_disease {source="Orphanet:139417"}
xref: COHD:139803 {source="MONDO:equivalentTo"}
xref: ICD10:G37.3 {source="Orphanet:139417", source="ORDO:139417/ntbt"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:341.20 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009188 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128378 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:139417 {source="MONDO:equivalentTo"}
xref: SCTID:47000000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0270627 {source="NCIT:C128378", source="Orphanet:139417", source="ORDO:139417/e", source="MONDO:equivalentTo"}
is_a: MONDO:0002565 {source="MESH:D009188", source="NCIT:C128378", source="linkedlifedata", source="linkedlifedata/inferred"} ! myelitis
is_a: MONDO:0015141 {source="Orphanet:139417"} ! disorder of medulla oblongata
property_value: exactMatch http://identifiers.org/mesh/D009188
property_value: exactMatch http://identifiers.org/snomedct/47000000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270627
property_value: exactMatch NCIT:C128378
property_value: exactMatch Orphanet:139417

[Term]
id: MONDO:0015343
name: secondary acute transverse myelitis
def: "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." [Orphanet:139420]
subset: ordo_clinical_subtype {source="Orphanet:139420"}
synonym: "disease-associated transverse myelitis" EXACT [Orphanet:139420]
xref: ICD10:G37.3 {source="Orphanet:139420", source="ORDO:139420/ntbt"}
xref: Orphanet:139420 {source="MONDO:equivalentTo"}
xref: UMLS:CN199396 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015342 {source="MONDOLEX:0015343", source="Orphanet:139420"} ! acute transverse myelitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199396
property_value: exactMatch Orphanet:139420

[Term]
id: MONDO:0015344
name: idiopathic acute transverse myelitis
def: "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." [Orphanet:139423]
subset: ordo_clinical_subtype {source="Orphanet:139423"}
synonym: "ATM/TM" EXACT [Orphanet:139423]
xref: ICD10:G37.3 {source="Orphanet:139423", source="ORDO:139423/ntbt"}
xref: Orphanet:139423 {source="MONDO:equivalentTo"}
is_a: MONDO:0015342 {source="MONDOLEX:0015344", source="Orphanet:139423"} ! acute transverse myelitis
property_value: exactMatch Orphanet:139423

[Term]
id: MONDO:0015345
name: perioral myoclonia with absences
def: "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome." [Orphanet:139426]
subset: ordo_disease {source="Orphanet:139426"}
synonym: "POMA" EXACT [Orphanet:139426]
xref: Orphanet:139426 {source="MONDO:equivalentTo"}
xref: SCTID:766815007 {source="MONDO:equivalentTo"}
is_a: MONDO:0020072 {source="Orphanet:139426"} ! childhood-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/766815007
property_value: exactMatch Orphanet:139426

[Term]
id: MONDO:0015346
name: Jeavons syndrome
def: "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." [Orphanet:139431]
subset: ordo_disease {source="Orphanet:139431"}
synonym: "EMEA" EXACT [Orphanet:139431]
synonym: "epilepsy with eyelid myoclonias" EXACT [http://orcid.org/0000-0001-8486-0558, https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html]
synonym: "eyelid myoclonia with and without absences" EXACT [Orphanet:139431]
xref: ICD10:G40.3 {source="Orphanet:139431", source="ORDO:139431/ntbt"}
xref: Orphanet:139431 {source="MONDO:equivalentTo"}
xref: SCTID:716278005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4274731 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199399 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020072 {source="Orphanet:139431"} ! childhood-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/716278005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199399
property_value: exactMatch Orphanet:139431

[Term]
id: MONDO:0015347
name: multicentric reticulohistiocytosis
def: "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." [Orphanet:139436]
subset: gard_rare {source="GARD:0007103"}
subset: ordo_disease {source="Orphanet:139436"}
synonym: "giant cell histiocytomatosis" EXACT [Orphanet:139436]
synonym: "lipoid dermatoarthritis" EXACT [DOID:11824, Orphanet:139436]
synonym: "multicentric reticulohistiocytosis" EXACT [DOID:11824]
xref: DOID:11824 {source="MONDO:equivalentTo"}
xref: GARD:0007103 {source="MONDO:equivalentTo"}
xref: ICD10:D76.3 {source="Orphanet:139436", source="ORDO:139436/ntbt"}
xref: ICD10:E78.81 {source="DOID:11824"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:713.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10070595 {source="ORDO:139436/e", source="Orphanet:139436"}
xref: NCIT:C27896 {source="DOID:11824", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:139436 {source="DOID:11824", source="MONDO:equivalentTo"}
xref: SCTID:84241008 {source="DOID:11824", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.64"}
xref: UMLS:C0311284 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:139436", source="DOID:11824", source="MONDO:equivalentTo", source="NCIT:C27896"}
is_a: MONDO:0002254 {source="DOID:11824"} ! syndromic disease
is_a: MONDO:0015531 {source="Orphanet:139436"} ! non-Langerhans cell histiocytosis
property_value: closeMatch http://identifiers.org/snomedct/190801003
property_value: exactMatch DOID:11824
property_value: exactMatch http://identifiers.org/meddra/10070595
property_value: exactMatch http://identifiers.org/snomedct/84241008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311284
property_value: exactMatch NCIT:C27896
property_value: exactMatch Orphanet:139436
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis xsd:anyURI {source="GARD:0007103"}

[Term]
id: MONDO:0015348
name: leukoencephalopathy with bilateral anterior temporal lobe cysts
def: "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." [Orphanet:139444]
subset: ordo_disease {source="Orphanet:139444"}
xref: ICD10:E75.2 {source="ORDO:139444/attributed", source="ORDO:139444/ntbt", source="Orphanet:139444"}
xref: Orphanet:139444 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:139444"} ! leukodystrophy
property_value: exactMatch Orphanet:139444

[Term]
id: MONDO:0015349
name: progressive cavitating leukoencephalopathy
def: "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." [Orphanet:139447]
subset: ordo_disease {source="Orphanet:139447"}
xref: ICD10:E75.2 {source="Orphanet:139447", source="ORDO:139447/attributed", source="ORDO:139447/ntbt"}
xref: Orphanet:139447 {source="MONDO:equivalentTo"}
xref: SCTID:719267003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304840 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:139447"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/snomedct/719267003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304840
property_value: exactMatch Orphanet:139447

[Term]
id: MONDO:0015350
name: 17q11.2 microduplication syndrome
def: "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." [Orphanet:139474]
subset: ordo_malformation_syndrome {source="Orphanet:139474"}
synonym: "dup(17)(q11.2)" EXACT [Orphanet:139474]
synonym: "Grisart-Destree syndrome" EXACT [Orphanet:139474]
synonym: "Grisart-Destrée syndrome" EXACT [Orphanet:139474]
synonym: "trisomy 17q11.2" EXACT [Orphanet:139474]
xref: ICD10:Q92.3 {source="ORDO:139474/attributed", source="ORDO:139474/ntbt", source="Orphanet:139474"}
xref: Orphanet:139474 {source="MONDO:equivalentTo"}
xref: SCTID:719583002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304642 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199408 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:139474"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016967 {source="MONDOLEX:0015350", source="Orphanet:139474"} ! partial duplication of the long arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150928
property_value: exactMatch http://identifiers.org/snomedct/719583002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199408
property_value: exactMatch Orphanet:139474

[Term]
id: MONDO:0015351
name: neuropathy with hearing impairment
def: "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." [Orphanet:139512]
subset: ordo_disease {source="Orphanet:139512"}
xref: ICD10:G60.8 {source="Orphanet:139512", source="ORDO:139512/attributed", source="ORDO:139512/ntbt"}
xref: Orphanet:139512 {source="MONDO:equivalentTo"}
xref: SCTID:723497003 {source="MONDO:equivalentTo"}
xref: UMLS:CN199414 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015359 {source="Orphanet:139512"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
is_a: MONDO:0019589 {source="Orphanet:139512"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/723497003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199414
property_value: exactMatch Orphanet:139512

[Term]
id: MONDO:0015352
name: distal hereditary motor neuropathy type 2
subset: ordo_disease {source="Orphanet:139525"}
synonym: "dHMN2" EXACT [Orphanet:139525]
synonym: "distal spinal muscular atrophy type 2" EXACT [Orphanet:139525]
synonym: "dSMA2" EXACT [Orphanet:139525]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:139525", source="ORDO:139525/attributed", source="ORDO:139525/ntbt"}
xref: MESH:C580044 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:139525 {source="MONDO:equivalentTo"}
is_a: MONDO:0015362 {source="Orphanet:139525"} ! autosomal dominant distal hereditary motor neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3711384
property_value: exactMatch http://identifiers.org/mesh/C580044
property_value: exactMatch Orphanet:139525

[Term]
id: MONDO:0015353
name: distal hereditary motor neuropathy type 5
subset: ordo_disease {source="Orphanet:139536"}
synonym: "dHMN5" EXACT [Orphanet:139536]
synonym: "distal hereditary motor neuropathy type V" EXACT [Orphanet:139536]
synonym: "distal HMN V" EXACT [Orphanet:139536]
synonym: "distal spinal muscular atrophy type 5" EXACT [Orphanet:139536]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:139536", source="ORDO:139536/attributed", source="ORDO:139536/ntbt"}
xref: Orphanet:139536 {source="MONDO:equivalentTo"}
xref: UMLS:C1833308 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:139536", source="MONDO:equivalentTo"}
is_a: MONDO:0015362 {source="Orphanet:139536"} ! autosomal dominant distal hereditary motor neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833308
property_value: exactMatch Orphanet:139536

[Term]
id: MONDO:0015354
name: hereditary sensory and autonomic neuropathy with deafness and global delay
def: "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." [Orphanet:139573]
subset: ordo_disease {source="Orphanet:139573"}
synonym: "HSAN with deafness and global delay" EXACT [Orphanet:139573]
xref: ICD10:G60.8 {source="ORDO:139573/attributed", source="ORDO:139573/ntbt", source="Orphanet:139573"}
xref: Orphanet:139573 {source="MONDO:equivalentTo"}
xref: SCTID:717826009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4303566 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN226662 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015366 {source="Orphanet:139573"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch http://identifiers.org/snomedct/717826009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226662
property_value: exactMatch Orphanet:139573

[Term]
id: MONDO:0015355
name: distal hereditary motor neuropathy type 7
def: "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." [Orphanet:139589]
subset: ordo_disease {source="Orphanet:139589"}
synonym: "dHMN7" EXACT [Orphanet:139589]
synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [Orphanet:139589]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:139589", source="ORDO:139589/attributed", source="ORDO:139589/ntbt"}
xref: Orphanet:139589 {source="MONDO:equivalentTo"}
xref: UMLS:CN199425 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015362 {source="Orphanet:139589"} ! autosomal dominant distal hereditary motor neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199425
property_value: exactMatch Orphanet:139589

[Term]
id: MONDO:0015356
name: hereditary neoplastic syndrome
def: "The inherited predisposition toward getting a tumor." [NCIT:C3266]
subset: ordo_group_of_disorders {source="Orphanet:140162"}
subset: predisposition
synonym: "cancer syndrome, hereditary" EXACT [MESH:D009386]
synonym: "cancer syndromes, hereditary" EXACT [MESH:D009386]
synonym: "familial neoplastic syndrome" EXACT [NCIT:C3266]
synonym: "familial tumor syndrome" EXACT [NCIT:C3266]
synonym: "hereditary cancer syndrome" EXACT [MESH:D009386]
synonym: "hereditary cancer syndromes" EXACT [MESH:D009386]
synonym: "hereditary neoplastic syndrome" EXACT [MESH:D009386, MONDO:patterns/hereditary, NCIT:C3266]
synonym: "hereditary neoplastic syndromes" EXACT [MESH:D009386]
synonym: "hereditary tumor syndrome" EXACT [NCIT:C3266]
synonym: "inherited cancer syndrome" EXACT [NCIT:C3266]
synonym: "inherited cancer-predisposing syndrome" EXACT [Orphanet:140162]
synonym: "neoplastic syndrome, hereditary" EXACT [MESH:D009386]
synonym: "syndrome, hereditary cancer" EXACT [MESH:D009386]
synonym: "syndrome, hereditary neoplastic" EXACT [MESH:D009386]
synonym: "syndromes, hereditary cancer" EXACT [MESH:D009386]
synonym: "syndromes, hereditary neoplastic" EXACT [MESH:D009386]
xref: MESH:D009386 {source="MONDO:equivalentTo"}
xref: NCIT:C3266 {source="MONDO:equivalentTo"}
xref: Orphanet:140162 {source="MONDO:equivalentTo"}
xref: SCTID:699346009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.67"}
xref: UMLS:C0027672 {source="MONDO:equivalentTo", source="NCIT:C3266", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199448 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN882908 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0003847 {source="MESH:D009386", source="MONDO:Redundant", source="NCIT:C3266", source="OWLReasoner:2017", source="Orphanet:140162", source="linkedlifedata"} ! Mendelian disease
relationship: excluded_subClassOf MONDO:0021058 {source="MONDO:Redundant", source="MONDOLEX:0015356", source="NCIT:C3266"} ! neoplastic syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198"} ! rare
relationship: predisposes_towards MONDO:0005070 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/mesh/D009386
property_value: exactMatch http://identifiers.org/snomedct/699346009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN882908
property_value: exactMatch NCIT:C3266
property_value: exactMatch Orphanet:140162

[Term]
id: MONDO:0015357
name: secondary hypoparathyroidism due to impaired parathormon secretion
subset: ordo_disease {source="Orphanet:140286"}
xref: ICD10:E20.8 {source="Orphanet:140286", source="ORDO:140286/ntbt"}
xref: Orphanet:140286 {source="MONDO:equivalentTo"}
xref: UMLS:CN242104 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001220 {source="Orphanet:140286"} ! hypoparathyroidism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015896"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242104
property_value: exactMatch Orphanet:140286

[Term]
id: MONDO:0015358
name: hereditary motor and sensory neuropathy
def: "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D015417]
subset: ordo_group_of_disorders {source="Orphanet:140450"}
synonym: "HMSN" EXACT [Orphanet:140450]
xref: COHD:4134552 {source="MONDO:equivalentTo"}
xref: GARD:0012685 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:140450/e", source="ORDO:140450/specific", source="Orphanet:140450"}
xref: MESH:D015417 {source="ORDO:140450/e", source="Orphanet:140450", source="MONDO:equivalentTo"}
xref: Orphanet:140450 {source="MONDO:equivalentTo"}
xref: SCTID:398100001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020127 {source="Orphanet:140450"} ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/D015417
property_value: exactMatch http://identifiers.org/snomedct/398100001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027888
property_value: exactMatch Orphanet:140450

[Term]
id: MONDO:0015359
name: autosomal dominant hereditary demyelinating motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:140453"}
synonym: "AD demyelinating HMSN" EXACT []
xref: ICD10:G60.0 {source="ORDO:140453/attributed", source="ORDO:140453/ntbt", source="Orphanet:140453"}
xref: Orphanet:140453 {source="MONDO:equivalentTo"}
xref: UMLS:CN228926 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018776 {source="Orphanet:140453"} ! demyelinating hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228926
property_value: exactMatch Orphanet:140453

[Term]
id: MONDO:0015360
name: autosomal dominant hereditary axonal motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:140456"}
xref: ICD10:G60.0 {source="ORDO:140456/attributed", source="ORDO:140456/ntbt", source="Orphanet:140456"}
xref: Orphanet:140456 {source="MONDO:equivalentTo"}
xref: UMLS:CN228927 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018775 {source="Orphanet:140456"} ! axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228927
property_value: exactMatch Orphanet:140456

[Term]
id: MONDO:0015361
name: autosomal recessive hereditary demyelinating motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:140459"}
synonym: "AR demyelinating HMSN" EXACT []
xref: ICD10:G60.0 {source="Orphanet:140459", source="ORDO:140459/attributed", source="ORDO:140459/ntbt"}
xref: Orphanet:140459 {source="MONDO:equivalentTo"}
xref: UMLS:CN228928 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018776 {source="Orphanet:140459"} ! demyelinating hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228928
property_value: exactMatch Orphanet:140459

[Term]
id: MONDO:0015362
name: autosomal dominant distal hereditary motor neuropathy
def: "Autosomal dominant form of distal hereditary motor neuropathy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:140465"}
synonym: "autosomal dominant dHMN" EXACT [Orphanet:140465]
synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [Orphanet:140465]
synonym: "distal hereditary motor neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G12.1 {source="ORDO:140465/attributed", source="ORDO:140465/ntbt", source="Orphanet:140465"}
xref: Orphanet:140465 {source="MONDO:equivalentTo"}
xref: UMLS:CN228930 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140465"} ! distal hereditary motor neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228930
property_value: exactMatch Orphanet:140465

[Term]
id: MONDO:0015363
name: autosomal recessive distal hereditary motor neuropathy
def: "Autosomal recessive form of distal hereditary motor neuropathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:140468"}
synonym: "autosomal recessive dHMN" EXACT [Orphanet:140468]
synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [Orphanet:140468]
synonym: "autosomal recessive dSMA" EXACT [Orphanet:140468]
synonym: "distal hereditary motor neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:140468/attributed", source="ORDO:140468/ntbt", source="Orphanet:140468"}
xref: Orphanet:140468 {source="MONDO:equivalentTo"}
xref: UMLS:CN228931 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140468"} ! distal hereditary motor neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228931
property_value: exactMatch Orphanet:140468

[Term]
id: MONDO:0015364
name: hereditary sensory and autonomic neuropathy
def: "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:140471"}
synonym: "CIP" EXACT [NCIT:C125386]
synonym: "congenital insensitivity to pain" EXACT [DOID:0050548, NCIT:C125386]
synonym: "congenital pain insensitivity" EXACT [NCIT:C125386]
synonym: "hereditary sensory and autonomic neuropathy" EXACT [DOID:0050548, PMID:15367861]
synonym: "hereditary sensory autonomic neuropathy" RELATED [GARD:0012688]
synonym: "hereditary sensory neuropathy" EXACT [PMID:15367861]
synonym: "hereditary sensory peripheral neuropathy" EXACT [MONDO:patterns/hereditary]
synonym: "HSAN" EXACT [MONDO:cjm]
synonym: "indifference to pain, Congenital, autosomal recessive" EXACT [NCIT:C125386]
synonym: "indifference to pain, Congenital, autosomal recessive" RELATED [NCIT:C125386]
xref: COHD:380398 {source="MONDO:equivalentTo"}
xref: DC:0000323 {source="MONDO:equivalentTo"}
xref: DOID:0050548 {source="MONDO:equivalentTo"}
xref: GARD:0012688 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.8 {source="Orphanet:140471", source="ORDO:140471/attributed", source="ORDO:140471/ntbt"}
xref: ICD9:356.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009477 {source="Orphanet:140471", source="ORDO:140471/e", source="MONDO:equivalentTo"}
xref: NCIT:C125386 {source="MONDO:kboom-pr-0.89/0.75/0.46", source="MONDO:equivalentTo"}
xref: OMIMPS:162400 {source="MONDO:equivalentTo", source="DC:0000323"}
xref: Orphanet:140471 {source="MONDO:equivalentTo"}
xref: SCTID:11442006 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0027889 {source="Orphanet:140471", source="ORDO:140471/e", source="MONDO:equivalentTo"}
is_a: MONDO:0002321 {source="MONDO:Redundant", source="MONDOLEX:0015364", source="OWLReasoner:2017", source="linkedlifedata"} ! sensory peripheral neuropathy
is_a: MONDO:0020127 {source="MONDO:Redundant", source="Orphanet:140471"} ! genetic peripheral neuropathy
intersection_of: MONDO:0002321 ! sensory peripheral neuropathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:0050548
property_value: exactMatch http://identifiers.org/mesh/D009477
property_value: exactMatch http://identifiers.org/snomedct/11442006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027889
property_value: exactMatch NCIT:C125386
property_value: exactMatch Orphanet:140471
property_value: excluded_synonym "familial dysautonomia, type II" xsd:string {source="DOID:0050548"}
property_value: seeAlso https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 xsd:anyURI

[Term]
id: MONDO:0015365
name: autosomal dominant hereditary sensory and autonomic neuropathy
def: "Autosomal dominant form of hereditary sensory and autonomic neuropathy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:140474"}
synonym: "hereditary sensory and autonomic neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G60.8 {source="ORDO:140474/attributed", source="ORDO:140474/ntbt", source="Orphanet:140474"}
xref: Orphanet:140474 {source="MONDO:equivalentTo"}
xref: UMLS:CN228932 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015364 {source="MONDO:Redundant", source="MONDOLEX:0015365", source="Orphanet:140474"} ! hereditary sensory and autonomic neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228932
property_value: exactMatch Orphanet:140474

[Term]
id: MONDO:0015366
name: autosomal recessive hereditary sensory and autonomic neuropathy
def: "Autosomal recessive form of hereditary sensory and autonomic neuropathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:140477"}
synonym: "hereditary sensory and autonomic neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G60.8 {source="ORDO:140477/attributed", source="ORDO:140477/ntbt", source="Orphanet:140477"}
xref: Orphanet:140477 {source="MONDO:equivalentTo"}
xref: UMLS:CN228933 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015364 {source="MONDO:Redundant", source="MONDOLEX:0015366", source="Orphanet:140477"} ! hereditary sensory and autonomic neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228933
property_value: exactMatch Orphanet:140477

[Term]
id: MONDO:0015367
name: Charlie M syndrome
def: "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." [Orphanet:1406]
subset: gard_rare {source="GARD:0001261"}
subset: ordo_malformation_syndrome {source="Orphanet:1406"}
xref: GARD:0001261 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1406/attributed", source="ORDO:1406/ntbt", source="Orphanet:1406"}
xref: Orphanet:1406 {source="MONDO:equivalentTo"}
xref: SCTID:733034007 {source="MONDO:equivalentTo"}
xref: UMLS:C4518555 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199458 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015334 {source="Orphanet:1406"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0017139 {source="Orphanet:1406"} ! oromandibular-limb hypogenesis syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1406"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/733034007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199458
property_value: exactMatch Orphanet:1406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome xsd:anyURI {source="GARD:0001261"}

[Term]
id: MONDO:0015368
name: neuro-ophthalmological disease
subset: ordo_group_of_disorders {source="Orphanet:140653"}
xref: Orphanet:140653 {source="MONDO:equivalentTo"}
xref: UMLS:CN199459 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:140653"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199459
property_value: exactMatch Orphanet:140653

[Term]
id: MONDO:0015369
name: Joubert syndrome and related disorders
def: "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." [Orphanet:140874]
subset: ordo_group_of_disorders {source="Orphanet:140874"}
synonym: "JSRD" EXACT [Orphanet:140874]
xref: Orphanet:140874 {source="MONDO:equivalentTo"}
xref: UMLS:CN199461 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020043 {source="Orphanet:140874"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199461
property_value: exactMatch Orphanet:140874

[Term]
id: MONDO:0015371
name: linear atrophoderma of Moulin
def: "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." [Orphanet:140933]
subset: ordo_disease {source="Orphanet:140933"}
xref: ICD10:L90.8 {source="ORDO:140933/attributed", source="ORDO:140933/ntbt", source="Orphanet:140933"}
xref: Orphanet:140933 {source="MONDO:equivalentTo"}
xref: SCTID:403395007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1274753 {source="MONDO:equivalentTo", source="ORDO:140933/e", source="Orphanet:140933"}
is_a: MONDO:0018798 {source="Orphanet:140933"} ! other genetic dermis disorder
is_a: MONDO:0021154 {source="Orphanet:140933"} ! dermis disease
property_value: exactMatch http://identifiers.org/snomedct/403395007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274753
property_value: exactMatch Orphanet:140933

[Term]
id: MONDO:0015372
name: autosomal dominant macrothrombocytopenia
def: "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." [Orphanet:140957]
subset: ordo_disease {source="Orphanet:140957"}
xref: ICD10:D69.4 {source="Orphanet:140957", source="ORDO:140957/attributed", source="ORDO:140957/ntbt"}
xref: Orphanet:140957 {source="MONDO:equivalentTo"}
xref: SCTID:720521008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C4304021 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199474 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016361 {source="Orphanet:140957"} ! isolated hereditary giant platelet disorder
property_value: exactMatch http://identifiers.org/snomedct/720521008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199474
property_value: exactMatch Orphanet:140957

[Term]
id: MONDO:0015373
name: obsolete Saldino-Mainzer syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1624 xsd:string
is_obsolete: true
replaced_by: MONDO:0009964

[Term]
id: MONDO:0015374
name: primary central nervous system vasculitis
subset: gard_rare
subset: ordo_disease {source="Orphanet:140989"}
synonym: "granulomatous angiitis of the central nervous system" RELATED [GARD:0008703]
synonym: "isolated angiitis of the central nervous system" EXACT [Orphanet:140989]
synonym: "PACNS" EXACT [GARD:0008703, Orphanet:140989]
synonym: "PCNSV" EXACT [Orphanet:140989]
synonym: "primary angiitis of the central nervous system" EXACT [Orphanet:140989]
synonym: "primary central nervous system vasculitis" EXACT [GARD:0008703]
synonym: "primary CNS vasculitis" RELATED [GARD:0008703]
synonym: "primary vasculitis of the central nervous system" EXACT [Orphanet:140989]
xref: GARD:0008703 {source="MONDO:equivalentTo"}
xref: ICD10:I67.7 {source="ORDO:140989/attributed", source="ORDO:140989/ntbt", source="Orphanet:140989"}
xref: MESH:C537295 {source="MONDO:equivalentTo"}
xref: Orphanet:140989 {source="GARD:0008703", source="MONDO:equivalentTo"}
is_a: MONDO:0015489 {source="Orphanet:140989"} ! predominantly medium-vessel vasculitis
is_a: MONDO:0015953 {source="Orphanet:140989"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
property_value: exactMatch http://identifiers.org/mesh/C535276
property_value: exactMatch http://identifiers.org/mesh/C537295
property_value: exactMatch http://identifiers.org/mesh/D020293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751881
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930862
property_value: exactMatch Orphanet:140989
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system xsd:anyURI {source="GARD:0008703"}

[Term]
id: MONDO:0015375
name: orofaciodigital syndrome
def: "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." [MESH:D009958]
subset: ordo_group_of_disorders {source="Orphanet:140997"}
synonym: "OFD" EXACT [Orphanet:140997]
synonym: "oral facial digital syndromes" RELATED [GARD:0010692]
synonym: "oral-facial-digital syndrome" EXACT [Orphanet:140997]
synonym: "oral-facial-digital syndromes" RELATED [GARD:0010692]
synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020]
synonym: "orofaciodigital syndromes" RELATED [GARD:0010692]
xref: DOID:4501 {source="MONDO:equivalentTo"}
xref: GARD:0010692 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:140997/ntbt", source="ORDO:140997/inclusion", source="Orphanet:140997"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009958 {source="DOID:4501", source="MONDO:equivalentTo"}
xref: OMIMPS:311200 {source="MONDO:equivalentTo"}
xref: Orphanet:140997 {source="MONDO:equivalentTo"}
xref: SCTID:52868006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.28"}
is_a: MONDO:0015334 {source="Orphanet:140997"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015498 {source="Orphanet:140997"} ! oromandibular-limb anomalies syndrome
is_a: MONDO:0015501 {source="Orphanet:140997"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0017434 {source="Orphanet:140997"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch DOID:4501
property_value: exactMatch http://identifiers.org/mesh/D009958
property_value: exactMatch http://identifiers.org/snomedct/52868006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029294
property_value: exactMatch Orphanet:140997

[Term]
id: MONDO:0015376
name: first branchial cleft anomaly
subset: ordo_morphological_anomaly {source="Orphanet:141013"}
synonym: "first branchial cleft cyst" EXACT [Orphanet:141013]
synonym: "first branchial cleft fistula" EXACT [Orphanet:141013]
xref: ICD10:Q18.0 {source="ORDO:141013/ntbt", source="Orphanet:141013"}
xref: Orphanet:141013 {source="MONDO:equivalentTo"}
xref: SCTID:73371000119103 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015476 {source="Orphanet:141013"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch http://identifiers.org/snomedct/73371000119103
property_value: exactMatch Orphanet:141013

[Term]
id: MONDO:0015377
name: third branchial cleft anomaly
subset: ordo_morphological_anomaly {source="Orphanet:141030"}
synonym: "third branchial cleft cyst" EXACT [Orphanet:141030]
synonym: "third branchial cleft fistula" EXACT [Orphanet:141030]
xref: ICD10:Q18.0 {source="Orphanet:141030", source="ORDO:141030/ntbt"}
xref: Orphanet:141030 {source="MONDO:equivalentTo"}
xref: SCTID:73391000119102 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015476 {source="Orphanet:141030"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch http://identifiers.org/snomedct/73391000119102
property_value: exactMatch Orphanet:141030

[Term]
id: MONDO:0015378
name: fourth branchial cleft anomaly
subset: ordo_morphological_anomaly {source="Orphanet:141037"}
synonym: "fourth branchial cleft cyst" EXACT [Orphanet:141037]
synonym: "fourth branchial cleft fistula" EXACT [Orphanet:141037]
xref: ICD10:Q18.0 {source="ORDO:141037/ntbt", source="Orphanet:141037"}
xref: Orphanet:141037 {source="MONDO:equivalentTo"}
xref: SCTID:707234001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015476 {source="Orphanet:141037"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch http://identifiers.org/snomedct/707234001
property_value: exactMatch Orphanet:141037

[Term]
id: MONDO:0015379
name: cervical dermoid cyst
def: "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." [Orphanet:141046]
subset: ordo_morphological_anomaly {source="Orphanet:141046"}
synonym: "dermoid cyst of the neck" EXACT [Orphanet:141046]
xref: ICD10:Q18.8 {source="ORDO:141046/ntbt", source="Orphanet:141046"}
xref: Orphanet:141046 {source="MONDO:equivalentTo"}
xref: SCTID:763129001 {source="MONDO:equivalentTo"}
is_a: MONDO:0002378 ! dermoid cyst
is_a: MONDO:0015476 {source="Orphanet:141046"} ! cysts and fistulae of the face and oral cavity
is_a: MONDO:0021351 ! neoplasm of neck
property_value: exactMatch http://identifiers.org/snomedct/763129001
property_value: exactMatch Orphanet:141046

[Term]
id: MONDO:0015380
name: facial dermoid cyst
def: "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area." [Orphanet:141051]
subset: ordo_morphological_anomaly {source="Orphanet:141051"}
synonym: "dermoid cyst of the face" EXACT [Orphanet:141051]
xref: ICD10:Q18.8 {source="Orphanet:141051", source="ORDO:141051/ntbt"}
xref: Orphanet:141051 {source="MONDO:equivalentTo"}
xref: SCTID:763220008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002378 ! dermoid cyst
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0015476 {source="Orphanet:141051"} ! cysts and fistulae of the face and oral cavity
is_a: MONDO:0044987 ! face disease
property_value: exactMatch http://identifiers.org/snomedct/763220008
property_value: exactMatch Orphanet:141051

[Term]
id: MONDO:0015381
name: commissural lip fistula
def: "A cysts and fistulae of the face and oral cavity that involves the labial commissure." [MONDO:design_pattern]
subset: ordo_morphological_anomaly {source="Orphanet:141061"}
synonym: "cysts and fistulae of the face and oral cavity of labial commissure" EXACT [MONDO:design_pattern]
synonym: "labial commissure cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD10:Q38.0 {source="ORDO:141061/ntbt", source="Orphanet:141061"}
xref: Orphanet:141061 {source="MONDO:equivalentTo"}
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141061"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:141061

[Term]
id: MONDO:0015382
name: lower lip fistula
def: "A cysts and fistulae of the face and oral cavity that involves the lower lip." [MONDO:design_pattern]
subset: ordo_morphological_anomaly {source="Orphanet:141064"}
synonym: "cysts and fistulae of the face and oral cavity of lower lip" EXACT [MONDO:design_pattern]
synonym: "lower lip cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD10:Q38.0 {source="Orphanet:141064", source="ORDO:141064/ntbt"}
xref: Orphanet:141064 {source="MONDO:equivalentTo"}
is_a: MONDO:0004748 ! lip disease
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141064"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:141064

[Term]
id: MONDO:0015383
name: cervicofacial fibrochondroma
subset: ordo_morphological_anomaly {source="Orphanet:141067"}
synonym: "cervicofacial enchondroma" EXACT [Orphanet:141067]
xref: Orphanet:141067 {source="MONDO:equivalentTo"}
is_a: MONDO:0015476 {source="Orphanet:141067"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:141067

[Term]
id: MONDO:0015384
name: digestive duplication cyst of the tongue
def: "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." [Orphanet:141071]
subset: ordo_morphological_anomaly {source="Orphanet:141071"}
synonym: "cysts and fistulae of the face and oral cavity of tongue" EXACT [MONDO:design_pattern]
synonym: "enteric duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "foregut duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "gastric duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "tongue cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD10:Q38.3 {source="ORDO:141071/ntbt", source="Orphanet:141071"}
xref: Orphanet:141071 {source="MONDO:equivalentTo"}
is_a: MONDO:0001165 ! tongue disease
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141071"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:141071

[Term]
id: MONDO:0015385
name: external auditory canal aplasia/hypoplasia
subset: ordo_morphological_anomaly {source="Orphanet:141074"}
synonym: "external auditory canal stenosis/atresia" EXACT [Orphanet:141074]
xref: ICD10:Q16.1 {source="Orphanet:141074", source="ORDO:141074/e", source="ORDO:141074/specific"}
xref: Orphanet:141074 {source="MONDO:equivalentTo"}
is_a: MONDO:0015502 {source="Orphanet:141074"} ! pinnae and external auditory canal anomaly
property_value: exactMatch Orphanet:141074

[Term]
id: MONDO:0015386
name: epignathus (disease)
def: "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period." [Orphanet:141077]
subset: ordo_clinical_subtype {source="Orphanet:141077"}
synonym: "Epignathus" EXACT [MONDO:ambiguous]
synonym: "oropharyngeal teratoma" EXACT [Orphanet:141077]
xref: HP:0030767 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D37.0 {source="Orphanet:141077", source="ORDO:141077/ntbt"}
xref: Orphanet:141077 {source="MONDO:equivalentTo"}
xref: SCTID:31248004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0266725 {source="MEDGEN:kboom-pr97-c98", source="ORDO:141077/e", source="Orphanet:141077", source="MONDO:equivalentTo"}
is_a: MONDO:0019500 {source="Orphanet:141077"} ! extragonadal teratoma
is_a: MONDO:0020035 {source="Orphanet:141077"} ! rare otorhinolaryngologic tumor
property_value: exactMatch http://identifiers.org/snomedct/31248004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266725
property_value: exactMatch Orphanet:141077

[Term]
id: MONDO:0015387
name: nasolacrimal duct cyst
def: "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." [Orphanet:141083]
subset: ordo_morphological_anomaly {source="Orphanet:141083"}
synonym: "dacryocele" EXACT [Orphanet:141083]
synonym: "dacryocystocele" EXACT [Orphanet:141083]
synonym: "nasolacrimal mucocele" EXACT [Orphanet:141083]
xref: ICD10:H04.6 {source="ORDO:141083/ntbt", source="Orphanet:141083"}
xref: Orphanet:141083 {source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:141083"} ! nose and cavum anomaly
is_a: MONDO:0020195 {source="Orphanet:141083"} ! excretory apparatus of the lacrimal system anomaly
is_a: MONDO:0044984 ! nasolacrimal duct disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0155241
property_value: exactMatch Orphanet:141083

[Term]
id: MONDO:0015388
name: polyrrhinia
def: "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." [Orphanet:141091]
subset: ordo_malformation_syndrome {source="Orphanet:141091"}
synonym: "Double nose" EXACT [Orphanet:141091]
synonym: "Polyrhinia" EXACT [Orphanet:141091]
xref: ICD10:Q30.8 {source="ORDO:141091/ntbt", source="Orphanet:141091"}
xref: Orphanet:141091 {source="MONDO:equivalentTo"}
xref: SCTID:716279002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0015503 {source="Orphanet:141091"} ! nose and cavum anomaly
property_value: exactMatch http://identifiers.org/snomedct/716279002
property_value: exactMatch Orphanet:141091

[Term]
id: MONDO:0015389
name: supernumerary nostril
def: "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face." [Orphanet:141096]
subset: ordo_malformation_syndrome {source="Orphanet:141096"}
synonym: "accessory nostril" EXACT [Orphanet:141096]
synonym: "supernumerary naris" EXACT [HP:0009934]
xref: HP:0009934 {source="MONDO:otherHierarchy"}
xref: ICD10:Q30.8 {source="Orphanet:141096", source="ORDO:141096/ntbt"}
xref: Orphanet:141096 {source="MONDO:equivalentTo"}
xref: SCTID:719163006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:CN226671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:141096"} ! nose and cavum anomaly
property_value: exactMatch http://identifiers.org/snomedct/719163006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226671
property_value: exactMatch Orphanet:141096

[Term]
id: MONDO:0015390
name: proboscis lateralis
def: "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms)." [Orphanet:141099]
subset: ordo_malformation_syndrome {source="Orphanet:141099"}
synonym: "congenital tubular nose" EXACT [Orphanet:141099]
xref: ICD10:Q30.8 {source="Orphanet:141099", source="ORDO:141099/ntbt"}
xref: Orphanet:141099 {source="MONDO:equivalentTo"}
xref: SCTID:715828006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274985 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:141099"} ! nose and cavum anomaly
property_value: exactMatch http://identifiers.org/snomedct/715828006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274985
property_value: exactMatch Orphanet:141099

[Term]
id: MONDO:0015391
name: nasopharyngeal teratoma
def: "A teratoma that involves the nasopharynx." [MONDO:patterns/location]
subset: ordo_clinical_subtype {source="Orphanet:141107"}
synonym: "nasopharynx teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of the nasopharynx" EXACT [Orphanet:141107]
xref: ICD10:D10.6 {source="ORDO:141107/ntbt", source="MONDO:relatedTo", source="Orphanet:141107"}
xref: Orphanet:141107 {source="MONDO:equivalentTo"}
xref: UMLS:C4531264 {source="MONDO:equivalentTo"}
is_a: MONDO:0002601 ! teratoma
is_a: MONDO:0005375 ! nasopharyngeal neoplasm
is_a: MONDO:0019500 {source="Orphanet:141107"} ! extragonadal teratoma
is_a: MONDO:0020035 {source="Orphanet:141107"} ! rare otorhinolaryngologic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4531264
property_value: exactMatch Orphanet:141107

[Term]
id: MONDO:0015392
name: nasal glial heterotopia
def: "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." [Orphanet:141112]
subset: ordo_disease {source="Orphanet:141112"}
synonym: "nasal glioma" EXACT [Orphanet:141112]
xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:141112 {source="MONDO:equivalentTo"}
xref: SCTID:5645008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0266490 {source="ORDO:141112/e", source="MONDO:equivalentTo", source="Orphanet:141112"}
is_a: MONDO:0015503 {source="Orphanet:141112"} ! nose and cavum anomaly
is_a: MONDO:0020035 {source="Orphanet:141112"} ! rare otorhinolaryngologic tumor
property_value: exactMatch http://identifiers.org/snomedct/5645008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266490
property_value: exactMatch Orphanet:141112

[Term]
id: MONDO:0015393
name: nasal ganglioglioma
def: "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." [Orphanet:141115]
subset: ordo_clinical_subtype {source="Orphanet:141115"}
xref: Orphanet:141115 {source="MONDO:equivalentTo"}
is_a: MONDO:0016733 {source="Orphanet:141115"} ! ganglioglioma
is_a: MONDO:0020035 {source="Orphanet:141115"} ! rare otorhinolaryngologic tumor
property_value: exactMatch Orphanet:141115

[Term]
id: MONDO:0015394
name: nasal encephalocele
def: "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." [Orphanet:141118]
subset: ordo_clinical_subtype {source="Orphanet:141118"}
xref: ICD10:Q01.1 {source="ORDO:141118/e", source="ORDO:141118/specific", source="Orphanet:141118"}
xref: Orphanet:141118 {source="MONDO:equivalentTo"}
xref: SCTID:65455002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015503 {source="Orphanet:141118"} ! nose and cavum anomaly
is_a: MONDO:0016057 {source="MONDOLEX:0015394", source="Orphanet:141118"} ! isolated encephalocele
property_value: exactMatch http://identifiers.org/snomedct/65455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014066
property_value: exactMatch Orphanet:141118

[Term]
id: MONDO:0015395
name: congenital subglottic stenosis
subset: ordo_malformation_syndrome {source="Orphanet:141121"}
xref: ICD10:Q31.1 {source="ORDO:141121/e", source="Orphanet:141121", source="MONDO:equivalentTo"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:141121 {source="MONDO:equivalentTo"}
xref: SCTID:204552001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0004382 ! laryngeal disease
is_a: MONDO:0015504 {source="Orphanet:141121"} ! larynx anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238441
property_value: exactMatch http://identifiers.org/snomedct/204552001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0396051
property_value: exactMatch Orphanet:141121

[Term]
id: MONDO:0015396
name: congenital laryngeal cyst
def: "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia." [Orphanet:141124]
subset: ordo_malformation_syndrome {source="Orphanet:141124"}
xref: ICD10:Q31.8 {source="ORDO:141124/ntbt", source="Orphanet:141124"}
xref: Orphanet:141124 {source="MONDO:equivalentTo"}
xref: SCTID:765763007 {source="MONDO:equivalentTo"}
xref: UMLS:C0339880 {source="MONDO:equivalentTo", source="Orphanet:141124"}
is_a: MONDO:0015504 {source="Orphanet:141124"} ! larynx anomaly
property_value: exactMatch http://identifiers.org/snomedct/765763007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339880
property_value: exactMatch Orphanet:141124

[Term]
id: MONDO:0015397
name: oculo-auriculo-vertebral spectrum
subset: gard_rare {source="GARD:0012074"}
subset: ordo_group_of_disorders {source="Orphanet:141132"}
synonym: "OAV spectrum" EXACT [Orphanet:141132]
synonym: "OAVD" RELATED [GARD:0012074]
synonym: "oculo-auriculo-vertebral dysplasia" RELATED [GARD:0012074]
synonym: "unilateral or bilateral and asymmetric otomandibular dysplasia" EXACT [Orphanet:141132]
xref: GARD:0012074 {source="MONDO:equivalentTo"}
xref: Orphanet:141132 {source="MONDO:equivalentTo"}
is_a: MONDO:0015482 {source="Orphanet:141132"} ! otomandibular dysplasia
property_value: exactMatch Orphanet:141132
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum xsd:anyURI {source="GARD:0012074"}

[Term]
id: MONDO:0015398
name: hemifacial microsomia
subset: ordo_malformation_syndrome {source="Orphanet:141136"}
synonym: "first branchial arch syndrome" EXACT [Orphanet:141136]
synonym: "Laterofacial microsomia" EXACT [Orphanet:141136]
synonym: "otomandibular dysostosis" EXACT [Orphanet:141136]
synonym: "otomandibular syndrome" EXACT [Orphanet:141136]
xref: GARD:0006582 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.8 {source="ORDO:141136/attributed", source="ORDO:141136/ntbt", source="Orphanet:141136"}
xref: Orphanet:141136 {source="MONDO:equivalentTo"}
xref: SCTID:109393007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.23"}
xref: UMLS:CN199493 {source="MONDO:equivalentTo"}
is_a: MONDO:0015397 {source="Orphanet:141136"} ! oculo-auriculo-vertebral spectrum
property_value: exactMatch http://identifiers.org/snomedct/109393007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199493
property_value: exactMatch Orphanet:141136

[Term]
id: MONDO:0015399
name: glossopalatine ankylosis
def: "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." [Orphanet:141163]
subset: ordo_malformation_syndrome {source="Orphanet:141163"}
synonym: "Cosack syndrome" EXACT [Orphanet:141163]
xref: ICD10:Q38.3 {source="Orphanet:141163", source="ORDO:141163/attributed", source="ORDO:141163/ntbt"}
xref: Orphanet:141163 {source="MONDO:equivalentTo"}
xref: SCTID:717814004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4303569 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199497 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017139 {source="Orphanet:141163"} ! oromandibular-limb hypogenesis syndrome
property_value: exactMatch http://identifiers.org/snomedct/717814004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199497
property_value: exactMatch Orphanet:141163

[Term]
id: MONDO:0015400
name: frontonasal arteriovenous malformation
def: "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." [Orphanet:141168]
subset: ordo_malformation_syndrome {source="Orphanet:141168"}
xref: ICD10:Q27.3 {source="ORDO:141168/ntbt", source="Orphanet:141168"}
xref: Orphanet:141168 {source="MONDO:equivalentTo"}
is_a: MONDO:0015500 {source="Orphanet:141168"} ! facial arteriovenous malformation
property_value: exactMatch Orphanet:141168

[Term]
id: MONDO:0015401
name: maxillary arteriovenous malformation
def: "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." [Orphanet:141171]
subset: ordo_malformation_syndrome {source="Orphanet:141171"}
synonym: "arteriovenous malformation of maxilla" EXACT [Orphanet:141171]
xref: ICD10:Q27.3 {source="ORDO:141171/ntbt", source="Orphanet:141171"}
xref: Orphanet:141171 {source="MONDO:equivalentTo"}
xref: SCTID:703335004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015500 {source="Orphanet:141171"} ! facial arteriovenous malformation
property_value: exactMatch http://identifiers.org/snomedct/703335004
property_value: exactMatch Orphanet:141171

[Term]
id: MONDO:0015402
name: mandibular arteriovenous malformation
def: "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." [Orphanet:141174]
subset: ordo_malformation_syndrome {source="Orphanet:141174"}
synonym: "arteriovenous malformation of mandible" EXACT [Orphanet:141174]
xref: ICD10:Q27.3 {source="Orphanet:141174", source="ORDO:141174/ntbt"}
xref: Orphanet:141174 {source="MONDO:equivalentTo"}
xref: SCTID:703334000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015500 {source="Orphanet:141174"} ! facial arteriovenous malformation
property_value: exactMatch http://identifiers.org/snomedct/703334000
property_value: exactMatch Orphanet:141174

[Term]
id: MONDO:0015403
name: non-involuting congenital hemangioma
def: "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma , which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth ( congenital ) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously ( involute )." [GARD:0010890]
subset: gard_rare {source="GARD:0010890"}
subset: ordo_disease {source="Orphanet:141179"}
synonym: "NICH" EXACT [GARD:0010890, https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141179]
synonym: "noninvoluting congenital hemangioma" EXACT [GARD:0010890]
xref: GARD:0010890 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="ORDO:141179/ntbt", source="Orphanet:141179"}
xref: Orphanet:141179 {source="GARD:0010890", source="MONDO:equivalentTo"}
xref: SCTID:703295003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.64"}
xref: UMLS:C1275417 {source="MONDO:equivalentTo", source="Orphanet:141179", source="ORDO:141179/e"}
is_a: MONDO:0018715 {source="MONDOLEX:0015403", source="Orphanet:141179", source="linkedlifedata"} ! congenital hemangioma
property_value: exactMatch http://identifiers.org/snomedct/703295003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275417
property_value: exactMatch Orphanet:141179
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma xsd:anyURI {source="GARD:0010890"}

[Term]
id: MONDO:0015404
name: rapidly involuting congenital hemangioma
def: "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution." [Orphanet:141184]
subset: ordo_disease {source="Orphanet:141184"}
synonym: "rich" EXACT [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141184]
xref: ICD10:D18.0 {source="Orphanet:141184", source="ORDO:141184/ntbt"}
xref: Orphanet:141184 {source="MONDO:equivalentTo"}
xref: SCTID:703294004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1275421 {source="Orphanet:141184", source="ORDO:141184/e", source="MONDO:equivalentTo"}
is_a: MONDO:0018715 {source="MONDOLEX:0015404", source="Orphanet:141184", source="linkedlifedata"} ! congenital hemangioma
property_value: exactMatch http://identifiers.org/snomedct/703294004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275421
property_value: exactMatch Orphanet:141184

[Term]
id: MONDO:0015405
name: cerebrofacial arteriovenous metameric syndrome
def: "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." [MONDO:cjm, PMID:27787648]
subset: ordo_group_of_disorders {source="Orphanet:141189"}
synonym: "CAMS" EXACT [Orphanet:141189]
xref: ICD10:Q28.2 {source="ORDO:141189/ntbt", source="Orphanet:141189"}
xref: Orphanet:141189 {source="MONDO:equivalentTo"}
xref: SCTID:703266007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3839265 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199500 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001256 {source="Orphanet:141189"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015145 {source="Orphanet:141189"} ! neurovascular malformation
property_value: exactMatch http://identifiers.org/snomedct/703266007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199500
property_value: exactMatch Orphanet:141189

[Term]
id: MONDO:0015406
name: cerebrofacial arteriovenous metameric syndrome type 1
subset: ordo_malformation_syndrome {source="Orphanet:141194"}
synonym: "CAMS1" EXACT [Orphanet:141194]
xref: ICD10:Q28.2 {source="Orphanet:141194", source="ORDO:141194/ntbt"}
xref: Orphanet:141194 {source="MONDO:equivalentTo"}
xref: SCTID:703267003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3840102 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199501 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015405 {source="Orphanet:141194", source="linkedlifedata"} ! cerebrofacial arteriovenous metameric syndrome
property_value: exactMatch http://identifiers.org/snomedct/703267003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3840102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199501
property_value: exactMatch Orphanet:141194

[Term]
id: MONDO:0015407
name: cerebrofacial arteriovenous metameric syndrome type 3
subset: ordo_malformation_syndrome {source="Orphanet:141199"}
synonym: "CAMS3" EXACT [Orphanet:141199]
xref: ICD10:Q28.2 {source="Orphanet:141199", source="ORDO:141199/ntbt"}
xref: Orphanet:141199 {source="MONDO:equivalentTo"}
xref: SCTID:703268008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3838691 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199502 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015405 {source="Orphanet:141199", source="linkedlifedata"} ! cerebrofacial arteriovenous metameric syndrome
property_value: exactMatch http://identifiers.org/snomedct/703268008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199502
property_value: exactMatch Orphanet:141199

[Term]
id: MONDO:0015408
name: diffuse lymphatic malformation
subset: ordo_clinical_subtype {source="Orphanet:141209"}
synonym: "diffuse lymphangioma" EXACT [Orphanet:141209]
synonym: "diffuse lymphangiomatosis" EXACT [Orphanet:141209]
synonym: "disseminated lymphangioma" EXACT [Orphanet:141209]
synonym: "disseminated lymphangiomatosis" EXACT [Orphanet:141209]
synonym: "disseminated lymphatic malformation" EXACT [Orphanet:141209]
synonym: "generalized lymphatic anomaly" EXACT [Orphanet:141209]
synonym: "Gla" EXACT [Orphanet:141209]
xref: ICD10:I89.8 {source="ORDO:141209/ntbt", source="Orphanet:141209"}
xref: Orphanet:141209 {source="MONDO:equivalentTo"}
xref: SCTID:703298001 {source="MONDO:kboom-pr-0.88/0.76/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0343090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002013 {source="Orphanet:141209"} ! lymphangioma
property_value: exactMatch http://identifiers.org/snomedct/703298001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343090
property_value: exactMatch Orphanet:141209

[Term]
id: MONDO:0015409
name: isolated congenital syngnathia
def: "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." [Orphanet:141214]
subset: ordo_malformation_syndrome {source="Orphanet:141214"}
synonym: "isolated congenital maxillomandibular fusion" EXACT [Orphanet:141214]
xref: ICD10:Q67.4 {source="ORDO:141214/ntbt", source="Orphanet:141214"}
xref: Orphanet:141214 {source="MONDO:equivalentTo"}
xref: SCTID:763317002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015501 {source="Orphanet:141214"} ! syndrome or malformation associated with head and neck malformations
property_value: exactMatch http://identifiers.org/snomedct/763317002
property_value: exactMatch Orphanet:141214

[Term]
id: MONDO:0015410
name: nasal dorsum fistula/cyst
subset: ordo_morphological_anomaly {source="Orphanet:141219"}
xref: ICD10:Q18.8 {source="ORDO:141219/ntbt", source="Orphanet:141219"}
xref: Orphanet:141219 {source="MONDO:equivalentTo"}
is_a: MONDO:0015476 {source="Orphanet:141219"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:141219

[Term]
id: MONDO:0015411
name: facial cleft
def: "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." [NCIT:C124510]
subset: ordo_group_of_disorders {source="Orphanet:141229"}
synonym: "cleft face" EXACT [NCIT:C124510]
synonym: "craniofacial cleft" EXACT [Orphanet:141229]
synonym: "prosoposchisis" EXACT [NCIT:C124510]
xref: ICD10:Q18.8 {source="Orphanet:141229", source="ORDO:141229/ntbt"}
xref: NCIT:C124510 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:141229 {source="MONDO:equivalentTo"}
xref: SCTID:92821006 {source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:141229"} ! rare head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:141229"} ! rare maxillo-facial surgical disease
property_value: exactMatch http://identifiers.org/snomedct/92821006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685787
property_value: exactMatch NCIT:C124510
property_value: exactMatch Orphanet:141229

[Term]
id: MONDO:0015412
name: median facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141234"}
synonym: "Midline facial cleft" EXACT [Orphanet:141234]
synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [Orphanet:141234]
xref: ICD10:Q18.8 {source="ORDO:141234/ntbt", source="Orphanet:141234"}
xref: Orphanet:141234 {source="MONDO:equivalentTo"}
is_a: MONDO:0015411 {source="Orphanet:141234"} ! facial cleft
property_value: exactMatch Orphanet:141234

[Term]
id: MONDO:0015413
name: median cleft of the upper lip and maxilla
def: "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." [Orphanet:141239]
subset: ordo_morphological_anomaly {source="Orphanet:141239"}
xref: ICD10:Q18.8 {source="ORDO:141239/ntbt", source="Orphanet:141239"}
xref: Orphanet:141239 {source="MONDO:equivalentTo"}
is_a: MONDO:0015412 {source="Orphanet:141239"} ! median facial cleft
property_value: exactMatch Orphanet:141239

[Term]
id: MONDO:0015414
name: paramedian nasal cleft
def: "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved." [Orphanet:141242]
subset: ordo_morphological_anomaly {source="Orphanet:141242"}
synonym: "alar cleft" EXACT [Orphanet:141242]
synonym: "alar rim cleft" EXACT [Orphanet:141242]
synonym: "cleft nose" EXACT [Orphanet:141242]
synonym: "isolated cleft of the ala nasi" EXACT [Orphanet:141242]
synonym: "isolated coloboma of the nose" EXACT [Orphanet:141242]
synonym: "Tessier number 1 cleft" EXACT [Orphanet:141242]
xref: ICD10:Q18.8 {source="Orphanet:141242", source="ORDO:141242/ntbt"}
xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:141242 {source="MONDO:equivalentTo"}
xref: SCTID:204521002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
is_a: MONDO:0008866 ! bifid nose, autosomal recessive
is_a: MONDO:0015478 {source="Orphanet:141242"} ! paramedian facial cleft
property_value: exactMatch http://identifiers.org/snomedct/204521002
property_value: exactMatch Orphanet:141242

[Term]
id: MONDO:0015415
name: oblique facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141253"}
synonym: "Orbitofacial cleft" EXACT [Orphanet:141253]
xref: ICD10:Q18.8 {source="Orphanet:141253", source="ORDO:141253/ntbt"}
xref: Orphanet:141253 {source="MONDO:equivalentTo"}
is_a: MONDO:0015411 {source="Orphanet:141253"} ! facial cleft
property_value: exactMatch Orphanet:141253

[Term]
id: MONDO:0015416
name: Tessier number 5 facial cleft
subset: ordo_morphological_anomaly {source="Orphanet:141261"}
xref: ICD10:Q18.8 {source="Orphanet:141261", source="ORDO:141261/ntbt"}
xref: Orphanet:141261 {source="MONDO:equivalentTo"}
is_a: MONDO:0015415 {source="Orphanet:141261"} ! oblique facial cleft
property_value: exactMatch Orphanet:141261

[Term]
id: MONDO:0015417
name: Tessier number 6 facial cleft
subset: ordo_morphological_anomaly {source="Orphanet:141265"}
xref: ICD10:Q18.8 {source="Orphanet:141265", source="ORDO:141265/ntbt"}
xref: Orphanet:141265 {source="MONDO:equivalentTo"}
is_a: MONDO:0015415 {source="Orphanet:141265"} ! oblique facial cleft
property_value: exactMatch Orphanet:141265

[Term]
id: MONDO:0015418
name: lateral facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141269"}
synonym: "Tessier number 7 facial cleft" EXACT [Orphanet:141269]
synonym: "transverse facial cleft" EXACT [Orphanet:141269]
xref: ICD10:Q18.8 {source="ORDO:141269/attributed", source="ORDO:141269/ntbt", source="Orphanet:141269"}
xref: Orphanet:141269 {source="MONDO:equivalentTo"}
is_a: MONDO:0015411 {source="Orphanet:141269"} ! facial cleft
is_a: MONDO:0015961 {source="Orphanet:141269", source="Orphanet:141269/inferred"} ! genetic head and neck malformation
property_value: exactMatch Orphanet:141269

[Term]
id: MONDO:0015419
name: midline cervical cleft
def: "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." [Orphanet:141288]
subset: ordo_morphological_anomaly {source="Orphanet:141288"}
xref: ICD10:Q18.8 {source="ORDO:141288/ntbt", source="Orphanet:141288"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:141288 {source="MONDO:equivalentTo"}
xref: SCTID:403557001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015412 {source="Orphanet:141288"} ! median facial cleft
property_value: exactMatch http://identifiers.org/snomedct/403557001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274890
property_value: exactMatch Orphanet:141288

[Term]
id: MONDO:0015420
name: cleft lip and alveolus
def: "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees." [Orphanet:141291]
subset: ordo_morphological_anomaly {source="Orphanet:141291"}
xref: ICD10:Q36.0 {source="ORDO:141291/btnt", source="Orphanet:141291"}
xref: ICD10:Q36.1 {source="ORDO:141291/btnt", source="Orphanet:141291"}
xref: ICD10:Q36.9 {source="ORDO:141291/btnt", source="Orphanet:141291"}
xref: ICD9:525.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:141291 {source="MONDO:equivalentTo"}
xref: SCTID:373643003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016034 {source="Orphanet:141291"} ! cleft lip with or without cleft palate
property_value: exactMatch http://identifiers.org/snomedct/373643003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1298692
property_value: exactMatch Orphanet:141291

[Term]
id: MONDO:0015421
name: orofaciodigital syndrome type 12
def: "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." [Orphanet:141327]
subset: ordo_malformation_syndrome {source="Orphanet:141327"}
synonym: "Moran-Barroso syndrome" EXACT [Orphanet:141327]
synonym: "OFD12" EXACT [Orphanet:141327]
synonym: "OFDS 12" RELATED [GARD:0010693]
synonym: "oral facial digital syndrome 12" RELATED [GARD:0010693]
synonym: "oral facial digital syndrome type 12" RELATED [GARD:0010693]
synonym: "oral-facial-digital syndrome 12" RELATED [GARD:0010693]
synonym: "oral-facial-digital syndrome type 12" EXACT [Orphanet:141327]
synonym: "orofaciodigital syndrome 12" RELATED [GARD:0010693]
synonym: "orofaciodigital syndrome XII" RELATED [GARD:0010693]
xref: GARD:0010693 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:141327/attributed", source="ORDO:141327/ntbt", source="Orphanet:141327"}
xref: MESH:C548034 {source="MONDO:equivalentTo", source="ORDO:141327/e", source="Orphanet:141327"}
xref: Orphanet:141327 {source="MONDO:equivalentTo"}
xref: SCTID:763834000 {source="MONDO:equivalentTo"}
xref: UMLS:C2932679 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:141327/e", source="Orphanet:141327"}
is_a: MONDO:0015375 {source="MESH:C548034", source="Orphanet:141327"} ! orofaciodigital syndrome
property_value: exactMatch http://identifiers.org/mesh/C548034
property_value: exactMatch http://identifiers.org/snomedct/763834000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932679
property_value: exactMatch Orphanet:141327

[Term]
id: MONDO:0015422
name: orofaciodigital syndrome type 13
def: "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." [Orphanet:141330]
subset: ordo_malformation_syndrome {source="Orphanet:141330"}
synonym: "Degner syndrome" EXACT [Orphanet:141330]
synonym: "OFD syndrome 13" RELATED [GARD:0010694]
synonym: "OFD13" EXACT [Orphanet:141330]
synonym: "OFDS 13" RELATED [GARD:0010694]
synonym: "oral facial digital syndrome 13" RELATED [GARD:0010694]
synonym: "oral facial digital syndrome type 13" RELATED [GARD:0010694]
synonym: "oral-facial-digital syndrome 13" RELATED [GARD:0010694]
synonym: "oral-facial-digital syndrome type 13" EXACT [Orphanet:141330]
synonym: "oral-facial-digital syndrome XIII" RELATED [GARD:0010694]
synonym: "orofaciodigital syndrome 13" RELATED [GARD:0010694]
synonym: "orofaciodigital syndrome XIII" RELATED [GARD:0010694]
xref: GARD:0010694 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:141330", source="ORDO:141330/attributed", source="ORDO:141330/ntbt"}
xref: MESH:C548035 {source="ORDO:141330/e", source="Orphanet:141330", source="MONDO:equivalentTo"}
xref: Orphanet:141330 {source="MONDO:equivalentTo"}
xref: SCTID:763835004 {source="MONDO:equivalentTo"}
xref: UMLS:C2932680 {source="MEDGEN:kboom-pr98-c99", source="ORDO:141330/e", source="Orphanet:141330", source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="MESH:C548035", source="Orphanet:141330"} ! orofaciodigital syndrome
property_value: exactMatch http://identifiers.org/mesh/C548035
property_value: exactMatch http://identifiers.org/snomedct/763835004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932680
property_value: exactMatch Orphanet:141330

[Term]
id: MONDO:0015423
name: obsolete anaplastic thyroid carcinoma
def: "Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." [Orphanet:142]
is_obsolete: true
replaced_by: MONDO:0006468

[Term]
id: MONDO:0015424
name: lethal chondrodysplasia, Moerman type
subset: gard_rare {source="GARD:0003225"}
subset: ordo_malformation_syndrome {source="Orphanet:1420"}
synonym: "lethal chondrodysplasia Moerman type" RELATED [GARD:0003225]
synonym: "Moerman-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1420]
xref: GARD:0003225 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:1420", source="ORDO:1420/attributed", source="ORDO:1420/ntbt"}
xref: Orphanet:1420 {source="MONDO:equivalentTo"}
xref: UMLS:CN199519 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019718 {source="Orphanet:1420"} ! lethal chondrodysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199519
property_value: exactMatch Orphanet:1420
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type xsd:anyURI {source="GARD:0003225"}

[Term]
id: MONDO:0015425
name: lethal recessive chondrodysplasia
def: "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." [Orphanet:1423]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1423"}
synonym: "chondrodysplasia lethal recessive" EXACT [MONDO:0022725]
synonym: "Maroteaux-Stanescu-Cousin syndrome" EXACT [Orphanet:1423]
xref: GARD:0001294 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:1423/attributed", source="ORDO:1423/ntbt", source="Orphanet:1423"}
xref: Orphanet:1423 {source="MONDO:equivalentTo"}
xref: SCTID:719404009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304745 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199522 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019718 {source="Orphanet:1423"} ! lethal chondrodysplasia
is_a: MONDO:0022723 ! chondrodysplasia
property_value: exactMatch http://identifiers.org/snomedct/719404009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199522
property_value: exactMatch Orphanet:1423
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive xsd:anyURI {source="GARD:0001294"}

[Term]
id: MONDO:0015426
name: Desbuquois dysplasia
def: "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies." [Orphanet:1425]
subset: ordo_disease {source="Orphanet:1425"}
synonym: "DBQD" EXACT [NCIT:C124056]
synonym: "Desbuquois dysplasia" EXACT [Orphanet:1425]
synonym: "desbuquois syndrome" EXACT [DOID:0060462]
synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [DOID:0060462]
synonym: "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [GARD:0001818]
xref: DOID:0060462 {source="MONDO:equivalentTo"}
xref: GARD:0001818 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q78.8 {source="ORDO:1425/attributed", source="ORDO:1425/ntbt", source="Orphanet:1425"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C124056 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:251450 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1425 {source="DOID:0060462", source="MONDO:equivalentTo"}
xref: SCTID:254099008 {source="DOID:0060462", source="MONDO:kboom-pr-0.91/0.67/1.52", source="MONDO:equivalentTo"}
xref: UMLS:C0432242 {source="DOID:0060462", source="MONDO:equivalentTo", source="ORDO:1425/e", source="NCIT:C124056", source="Orphanet:1425"}
xref: UMLS:CN239270 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0060462", source="NCIT:C124056"} ! osteochondrodysplasia
is_a: MONDO:0015332 {source="Orphanet:1425"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0019700 {source="Orphanet:1425"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch DOID:0060462
property_value: exactMatch http://identifiers.org/mesh/C535943
property_value: exactMatch http://identifiers.org/snomedct/254099008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239270
property_value: exactMatch NCIT:C124056
property_value: exactMatch Orphanet:1425

[Term]
id: MONDO:0015427
name: paroxysmal dyskinesia
def: "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms)." [Orphanet:1431]
subset: ordo_group_of_disorders {source="Orphanet:1431"}
synonym: "paroxysmal choreoathetosis" EXACT [Orphanet:1431]
synonym: "paroxysmal dystonic choreoathetosis" EXACT [Orphanet:1431]
xref: ICD10:G24.8 {source="Orphanet:1431", source="ORDO:1431/attributed", source="ORDO:1431/ntbt"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1431 {source="MONDO:equivalentTo"}
xref: SCTID:49949003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.09"}
is_a: MONDO:0016058 {source="Orphanet:1431"} ! paroxysmal dystonia
property_value: exactMatch http://identifiers.org/mesh/D002819
property_value: exactMatch http://identifiers.org/snomedct/49949003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752210
property_value: exactMatch Orphanet:1431

[Term]
id: MONDO:0015428
name: choroidal atrophy-alopecia syndrome
def: "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." [Orphanet:1433]
subset: ordo_malformation_syndrome {source="Orphanet:1433"}
synonym: "choroidal atrophy alopecia" RELATED [GARD:0003704]
synonym: "fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails" RELATED [GARD:0003704]
synonym: "Moloney syndrome" EXACT [Orphanet:1433]
synonym: "regional choroidal atrophy and alopecia" EXACT [Orphanet:1433]
xref: GARD:0003704 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C535810 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1433 {source="MONDO:equivalentTo"}
xref: SCTID:720850008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.34"}
xref: UMLS:C2931026 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:1433", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:1433", source="linkedlifedata"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535810
property_value: exactMatch http://identifiers.org/snomedct/720850008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931026
property_value: exactMatch Orphanet:1433

[Term]
id: MONDO:0015429
name: choroideremia-hypopituitarism syndrome
subset: ordo_disease {source="Orphanet:1434"}
synonym: "CHM-hypopituitarism syndrome" EXACT [Orphanet:1434]
xref: Orphanet:1434 {source="MONDO:equivalentTo"}
xref: UMLS:CN226680 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020241 {source="Orphanet:1434"} ! unclassified familial retinal dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226680
property_value: exactMatch Orphanet:1434

[Term]
id: MONDO:0015430
name: ring chromosome 1
subset: ordo_malformation_syndrome {source="Orphanet:1437"}
synonym: "chromosome 1 ring" RELATED [GARD:0001320]
synonym: "chromosome 1, ring" RELATED [GTR:AN0102272]
synonym: "r(1) syndrome" EXACT [Orphanet:1437]
synonym: "R1" RELATED [GARD:0001320]
synonym: "Ring 1" EXACT [Orphanet:1437]
synonym: "Ring chromosome 1 syndrome" RELATED [Orphanet:1437]
synonym: "Ring chromosome type 1" EXACT [MONDORULE:1, Orphanet:1437]
xref: GARD:0001320 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GTR:AN0102272 {source="UMLS:CN036412"}
xref: ICD10:Q93.2 {source="ORDO:1437/attributed", source="ORDO:1437/ntbt", source="Orphanet:1437"}
xref: MESH:C535361 {source="MONDO:equivalentTo", source="Orphanet:1437", source="ORDO:1437/e", source="MONDO:ontobio"}
xref: NCIT:C36474 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: Orphanet:1437 {source="MONDO:equivalentTo"}
xref: SCTID:47017007 {source="MONDO:equivalentTo"}
xref: UMLS:CN036412 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C535361", source="NCIT:C36474", source="Orphanet:1437"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C535361
property_value: exactMatch http://identifiers.org/snomedct/47017007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036412
property_value: exactMatch NCIT:C36474
property_value: exactMatch Orphanet:1437

[Term]
id: MONDO:0015431
name: ring chromosome 10
def: "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." [Orphanet:1438]
subset: gard_rare {source="GARD:0001322"}
subset: ordo_malformation_syndrome {source="Orphanet:1438"}
synonym: "chromosome 10 ring" RELATED [GARD:0001322]
synonym: "r10" RELATED [GARD:0001322]
synonym: "Ring 10" RELATED [GARD:0001322]
synonym: "Ring chromosome 10 syndrome" RELATED [Orphanet:1438]
synonym: "Ring chromosome type 10" EXACT [MONDORULE:2, Orphanet:1438]
xref: GARD:0001322 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1438/attributed", source="ORDO:1438/ntbt", source="Orphanet:1438"}
xref: MESH:C538086 {source="MONDO:equivalentTo", source="ORDO:1438/e", source="MONDO:ontobio", source="Orphanet:1438"}
xref: Orphanet:1438 {source="MONDO:equivalentTo"}
xref: SCTID:86997002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265438 {source="MONDO:equivalentTo", source="ORDO:1438/e", source="Orphanet:1438"}
xref: UMLS:CN037257 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1438"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018186 {source="MESH:C538086", source="Orphanet:1438"} ! ring chromosome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C538086
property_value: exactMatch http://identifiers.org/snomedct/86997002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931727
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN037257
property_value: exactMatch Orphanet:1438
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10 xsd:anyURI {source="GARD:0001322"}

[Term]
id: MONDO:0015432
name: ring chromosome 12
def: "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." [Orphanet:1439]
subset: gard_rare {source="GARD:0001325"}
subset: ordo_malformation_syndrome {source="Orphanet:1439"}
synonym: "chromosome 12 ring" RELATED [GARD:0001325]
synonym: "R12" RELATED [GARD:0001325]
synonym: "Ring 12" RELATED [GARD:0001325]
synonym: "Ring chromosome 12 syndrome" RELATED [Orphanet:1439]
synonym: "Ring chromosome type 12" EXACT [MONDORULE:2, Orphanet:1439]
xref: GARD:0001325 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1439/attributed", source="ORDO:1439/ntbt", source="Orphanet:1439"}
xref: MESH:C538298 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1439 {source="MONDO:equivalentTo"}
xref: UMLS:C0795843 {source="MONDO:equivalentTo", source="Orphanet:1439"}
is_a: MONDO:0018186 {source="MESH:C538298", source="Orphanet:1439"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795843
property_value: exactMatch Orphanet:1439
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 xsd:anyURI {source="GARD:0001325"}

[Term]
id: MONDO:0015433
name: ring chromosome 17
subset: gard_rare {source="GARD:0004724"}
subset: ordo_malformation_syndrome {source="Orphanet:1441"}
synonym: "chromosome 17 ring" RELATED [GARD:0004724]
synonym: "R17" RELATED [GARD:0004724]
synonym: "Ring 17" RELATED [GARD:0004724]
synonym: "Ring chromosome 17 syndrome" RELATED [Orphanet:1441]
synonym: "Ring chromosome type 17" EXACT [MONDORULE:2, Orphanet:1441]
xref: GARD:0004724 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:1441", source="ORDO:1441/attributed", source="ORDO:1441/ntbt"}
xref: MESH:C538046 {source="ORDO:1441/e", source="Orphanet:1441", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1441 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C538046", source="Orphanet:1441"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538046
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931714
property_value: exactMatch Orphanet:1441
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 xsd:anyURI {source="GARD:0004724"}

[Term]
id: MONDO:0015434
name: ring chromosome 18
subset: gard_rare {source="GARD:0006077"}
subset: ordo_malformation_syndrome {source="Orphanet:1442"}
synonym: "chromosome 18 ring" RELATED [GARD:0006077]
synonym: "R18" RELATED [GARD:0006077]
synonym: "Ring 18" RELATED [GARD:0006077]
synonym: "Ring chromosome 18 syndrome" RELATED [Orphanet:1442]
synonym: "Ring chromosome type 18" EXACT [MONDORULE:2, Orphanet:1442]
xref: EFO:0001226 {source="MONDO:equivalentTo"}
xref: GARD:0006077 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:1442", source="ORDO:1442/attributed", source="ORDO:1442/ntbt"}
xref: MESH:C538304 {source="Orphanet:1442", source="ORDO:1442/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1442 {source="MONDO:equivalentTo"}
xref: SCTID:88154004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265475 {source="Orphanet:1442", source="ORDO:1442/e", source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C538304", source="Orphanet:1442"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538304
property_value: exactMatch http://identifiers.org/snomedct/88154004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931809
property_value: exactMatch Orphanet:1442
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 xsd:anyURI {source="GARD:0006077"}

[Term]
id: MONDO:0015435
name: ring chromosome 19
def: "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." [Orphanet:1443]
subset: gard_rare {source="GARD:0001333"}
subset: ordo_malformation_syndrome {source="Orphanet:1443"}
synonym: "chromosome 19 ring" RELATED [GARD:0001333]
synonym: "R19" RELATED [GARD:0001333]
synonym: "Ring 19" RELATED [GARD:0001333]
synonym: "Ring chromosome 19 syndrome" RELATED [Orphanet:1443]
synonym: "Ring chromosome type 19" EXACT [MONDORULE:2, Orphanet:1443]
xref: GARD:0001333 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:1443", source="ORDO:1443/attributed", source="ORDO:1443/ntbt"}
xref: MESH:C538310 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1443 {source="MONDO:equivalentTo"}
xref: SCTID:765484001 {source="MONDO:equivalentTo"}
xref: UMLS:CN036553 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C538310", source="Orphanet:1443"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538310
property_value: exactMatch http://identifiers.org/snomedct/765484001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036553
property_value: exactMatch Orphanet:1443
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19 xsd:anyURI {source="GARD:0001333"}

[Term]
id: MONDO:0015436
name: ring chromosome 20
def: "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present." [Orphanet:1444]
subset: gard_rare {source="GARD:0001334"}
subset: ordo_malformation_syndrome {source="Orphanet:1444"}
synonym: "chromosome 20 ring" RELATED [GARD:0001334]
synonym: "R20" RELATED [GARD:0001334]
synonym: "Ring 20" RELATED [GARD:0001334]
synonym: "Ring chromosome 20 syndrome" RELATED [GARD:0001334]
synonym: "Ring chromosome type 20" EXACT [MONDORULE:2, Orphanet:1444]
xref: GARD:0001334 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:1444", source="ORDO:1444/attributed", source="ORDO:1444/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580424 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1444 {source="MONDO:equivalentTo"}
xref: SCTID:23686004 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo"}
is_a: MONDO:0015652 {source="Orphanet:1444", comment="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0018186 {source="MESH:C580424", source="Orphanet:1444"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C535369
property_value: exactMatch http://identifiers.org/mesh/C580424
property_value: exactMatch http://identifiers.org/snomedct/23686004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930886
property_value: exactMatch Orphanet:1444
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 xsd:anyURI {source="GARD:0001334"}

[Term]
id: MONDO:0015437
name: ring chromosome 21
subset: gard_rare {source="GARD:0006083"}
subset: ordo_malformation_syndrome {source="Orphanet:1445"}
synonym: "chromosome 21 en anneau" EXACT [Orphanet:1445]
synonym: "chromosome 21 ring" RELATED [GARD:0006083]
synonym: "R21" RELATED [GARD:0006083]
synonym: "Ring 21" RELATED [GARD:0006083]
synonym: "Ring chromosome 21 syndrome" RELATED [Orphanet:1445]
synonym: "Ring chromosome type 21" EXACT [MONDORULE:2, Orphanet:1445]
xref: GARD:0006083 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1445/attributed", source="ORDO:1445/ntbt", source="Orphanet:1445"}
xref: MESH:C537109 {source="ORDO:1445/e", source="MONDO:equivalentTo", source="Orphanet:1445", source="MONDO:ontobio"}
xref: Orphanet:1445 {source="MONDO:equivalentTo"}
xref: SCTID:31325007 {source="MONDO:equivalentTo"}
xref: UMLS:CN037252 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C537109", source="Orphanet:1445"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C537109
property_value: exactMatch http://identifiers.org/snomedct/31325007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931422
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN037252
property_value: exactMatch Orphanet:1445
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 xsd:anyURI {source="GARD:0006083"}

[Term]
id: MONDO:0015438
name: ring chromosome 22
def: "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome , meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." [https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22]
subset: gard_rare {source="GARD:0001336"}
subset: ordo_malformation_syndrome {source="Orphanet:1446"}
synonym: "chromosome 22 ring" RELATED [GARD:0001336]
synonym: "r(22) syndrome" EXACT [Orphanet:1446]
synonym: "R22" RELATED [GARD:0001336]
synonym: "Ring 22" RELATED [GARD:0001336]
synonym: "Ring chromosome 22 syndrome" RELATED [Orphanet:1446]
synonym: "Ring chromosome type 22" EXACT [MONDORULE:2, Orphanet:1446]
xref: GARD:0001336 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1446/attributed", source="ORDO:1446/ntbt", source="Orphanet:1446"}
xref: MESH:C536795 {source="MONDO:equivalentTo", source="Orphanet:1446", source="ORDO:1446/e", source="MONDO:ontobio"}
xref: Orphanet:1446 {source="MONDO:equivalentTo"}
xref: SCTID:13555004 {source="MONDO:equivalentTo"}
xref: UMLS:CN036599 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C536795", source="Orphanet:1446"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C536795
property_value: exactMatch http://identifiers.org/snomedct/13555004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265492
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036599
property_value: exactMatch Orphanet:1446
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 xsd:anyURI {source="GARD:0001336"}

[Term]
id: MONDO:0015439
name: ring chromosome 4
def: "Gene expression cluster 4 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121983]
subset: gard_rare {source="GARD:0001339"}
subset: ordo_malformation_syndrome {source="Orphanet:1447"}
synonym: "chromosome 4 ring" RELATED [GARD:0001339]
synonym: "r(4) syndrome" EXACT [Orphanet:1447]
synonym: "R4" RELATED [GARD:0001339]
synonym: "Ring 4" RELATED [GARD:0001339]
synonym: "Ring chromosome 4 syndrome" RELATED [Orphanet:1447]
synonym: "Ring chromosome type 4" EXACT [MONDORULE:1, Orphanet:1447]
synonym: "rose cluster 4" EXACT [NCIT:C121983]
synonym: "syndrome r(4)" EXACT [Orphanet:1447]
xref: GARD:0001339 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1447/attributed", source="ORDO:1447/ntbt", source="Orphanet:1447"}
xref: MESH:C537636 {source="MONDO:equivalentTo", source="ORDO:1447/e", source="Orphanet:1447", source="MONDO:ontobio"}
xref: NCIT:C121983 {source="MONDO:equivalentTo"}
xref: Orphanet:1447 {source="MONDO:equivalentTo"}
xref: SCTID:81678004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C537636", source="Orphanet:1447"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C537636
property_value: exactMatch http://identifiers.org/snomedct/81678004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931556
property_value: exactMatch NCIT:C121983
property_value: exactMatch Orphanet:1447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 xsd:anyURI {source="GARD:0001339"}

[Term]
id: MONDO:0015440
name: ring chromosome 6
def: "Gene expression cluster 6 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121985]
subset: gard_rare {source="GARD:0006095"}
subset: ordo_malformation_syndrome {source="Orphanet:1448"}
synonym: "chromosome 6 ring" RELATED [GARD:0006095]
synonym: "R6" RELATED [GARD:0006095]
synonym: "Ring 6" RELATED [GARD:0006095]
synonym: "Ring chromosome 6 syndrome" RELATED [Orphanet:1448]
synonym: "Ring chromosome type 6" EXACT [MONDORULE:1, Orphanet:1448]
synonym: "rose cluster 6" EXACT [NCIT:C121985]
xref: GARD:0006095 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1448/attributed", source="ORDO:1448/ntbt", source="Orphanet:1448"}
xref: MESH:C537763 {source="MONDO:equivalentTo", source="Orphanet:1448", source="ORDO:1448/e", source="MONDO:ontobio"}
xref: NCIT:C121985 {source="MONDO:equivalentTo"}
xref: Orphanet:1448 {source="MONDO:equivalentTo"}
xref: SCTID:765488003 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C537763", source="Orphanet:1448"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C537763
property_value: exactMatch http://identifiers.org/snomedct/765488003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931604
property_value: exactMatch NCIT:C121985
property_value: exactMatch Orphanet:1448
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 xsd:anyURI {source="GARD:0006095"}

[Term]
id: MONDO:0015441
name: ring chromosome 7
def: "Gene expression cluster 7 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121986]
subset: gard_rare {source="GARD:0001345"}
subset: ordo_malformation_syndrome {source="Orphanet:1449"}
synonym: "chromosome 7 ring" RELATED [GARD:0001345]
synonym: "R7" RELATED [GARD:0001345]
synonym: "Ring 7" RELATED [GARD:0001345]
synonym: "Ring chromosome 7 syndrome" RELATED [Orphanet:1449]
synonym: "Ring chromosome type 7" EXACT [MONDORULE:1, Orphanet:1449]
synonym: "rose cluster 7" EXACT [NCIT:C121986]
xref: GARD:0001345 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:1449/attributed", source="ORDO:1449/ntbt", source="Orphanet:1449"}
xref: MESH:C537813 {source="MONDO:equivalentTo", source="ORDO:1449/e", source="MONDO:ontobio", source="Orphanet:1449"}
xref: NCIT:C121986 {source="MONDO:equivalentTo"}
xref: Orphanet:1449 {source="MONDO:equivalentTo"}
xref: SCTID:765489006 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C537813", source="Orphanet:1449"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C537813
property_value: exactMatch http://identifiers.org/snomedct/765489006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931622
property_value: exactMatch NCIT:C121986
property_value: exactMatch Orphanet:1449
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 xsd:anyURI {source="GARD:0001345"}

[Term]
id: MONDO:0015442
name: obsolete hereditary breast and ovarian cancer syndrome
is_obsolete: true
replaced_by: MONDO:0003582

[Term]
id: MONDO:0015443
name: chromosome 8-derived supernumerary ring/marker
def: "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term)." [Orphanet:1450]
subset: ordo_malformation_syndrome {source="Orphanet:1450"}
synonym: "chromosome 8 ring" RELATED [GARD:0001347, GTR:AN0101479]
synonym: "r(8) syndrome" EXACT [Orphanet:1450]
synonym: "R8" RELATED [GARD:0001347]
synonym: "Ring 8" EXACT [GTR:AN0101480, Orphanet:1450]
synonym: "ring chromosome 8" EXACT [Orphanet:1450]
synonym: "Ring chromosome 8 syndrome" RELATED [Orphanet:1450]
synonym: "rose cluster 8" EXACT [NCIT:C121988]
synonym: "supernumerary ring/marker 8" EXACT [Orphanet:1450]
xref: GARD:0001347 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GTR:AN0101479 {source="UMLS:CN036129"}
xref: GTR:AN0101480 {source="UMLS:CN036129"}
xref: ICD10:Q93.2 {source="Orphanet:1450", source="ORDO:1450/attributed", source="ORDO:1450/ntbt"}
xref: MESH:C537824 {source="Orphanet:1450", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:1450/e"}
xref: NCIT:C121988 {source="MONDO:equivalentTo"}
xref: Orphanet:1450 {source="MONDO:equivalentTo"}
xref: SCTID:715983001 {source="MONDO:equivalentTo"}
xref: UMLS:CN036129 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C537824", source="Orphanet:1450"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C537824
property_value: exactMatch http://identifiers.org/snomedct/715983001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036129
property_value: exactMatch NCIT:C121988
property_value: exactMatch Orphanet:1450

[Term]
id: MONDO:0015444
name: obsolete cleidocranial dysplasia
is_obsolete: true
replaced_by: MONDO:0007340

[Term]
id: MONDO:0015445
name: autosomal dominant coarctation of aorta
def: "Autosomal dominant form of aorta coarctation." [MONDO:patterns/autosomal_dominant]
subset: ordo_clinical_subtype {source="Orphanet:1455"}
synonym: "aorta coarctation, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant aorta coarctation" EXACT [MONDO:design_pattern]
xref: ICD10:Q25.1 {source="MONDO:subClassOf", source="Orphanet:1455", source="ORDO:1455/ntbt"}
xref: Orphanet:1455 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0007345 {source="MONDO:Redundant", source="Orphanet:1455"} ! aorta coarctation
property_value: exactMatch http://identifiers.org/mesh/C531623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930803
property_value: exactMatch Orphanet:1455

[Term]
id: MONDO:0015446
name: atypical coarctation of aorta
def: "Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis; see these terms)." [Orphanet:1456]
subset: ordo_clinical_subtype {source="Orphanet:1456"}
synonym: "coarctation of the abdominal aorta" EXACT [Orphanet:1456]
synonym: "mid-aortic dysplastic syndrome" EXACT [Orphanet:1456]
synonym: "mid-aortic syndrome" EXACT [Orphanet:1456]
synonym: "Midaortic syndrome" EXACT [Orphanet:1456]
synonym: "middle aortic syndrome" EXACT [Orphanet:1456]
xref: ICD10:Q25.1 {source="MONDO:subClassOf", source="ORDO:1456/ntbt", source="Orphanet:1456"}
xref: Orphanet:1456 {source="MONDO:equivalentTo"}
xref: SCTID:471268000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3496579 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:C3805239 {source="MONDO:equivalentTo", source="Orphanet:1456", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007345 {source="Orphanet:1456"} ! aorta coarctation
property_value: exactMatch http://identifiers.org/snomedct/471268000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3496579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805239
property_value: exactMatch Orphanet:1456

[Term]
id: MONDO:0015447
name: differentiated thyroid carcinoma
def: "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." [Orphanet:146]
subset: ordo_disease {source="Orphanet:146"}
synonym: "differentiated thyroid cancer" EXACT [NCIT:C7153]
synonym: "differentiated thyroid carcinoma" EXACT [NCIT:C7153]
synonym: "differentiated thyroid gland cancer" EXACT [NCIT:C7153]
synonym: "differentiated thyroid gland carcinoma" EXACT [NCIT:C7153]
synonym: "papillary or follicular thyroid carcinoma" EXACT [Orphanet:146]
synonym: "thyroid gland differentiated carcinoma" EXACT [NCIT:C7153]
synonym: "thyroid gland well differentiated carcinoma" EXACT [NCIT:C7153]
synonym: "well differentiated thyroid carcinoma" EXACT [NCIT:C7153]
synonym: "well differentiated thyroid gland carcinoma" EXACT [NCIT:C7153]
synonym: "well-differentiated thyroid cancer" EXACT [NCIT:C7153]
synonym: "well-differentiated thyroid carcinoma" EXACT [Orphanet:146]
xref: EFO:1002017 {source="MONDO:equivalentTo"}
xref: ICD10:C73 {source="ORDO:146/ntbt", source="Orphanet:146"}
xref: NCIT:C7153 {source="MONDO:equivalentTo"}
xref: ONCOTREE:WDTC {source="MONDO:equivalentTo"}
xref: Orphanet:146 {source="MONDO:equivalentTo"}
xref: UMLS:C1337013 {source="NCIT:C7153", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015075 {source="MONDOLEX:0015447", source="NCIT:C7153/inferred", source="Orphanet:146"} ! thyroid gland carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1337013
property_value: exactMatch NCIT:C7153
property_value: exactMatch Orphanet:146

[Term]
id: MONDO:0015448
name: mitochondrial complex III deficiency
def: "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." [Orphanet:1460]
comment: Editor note: check this; isolated in ORDO
subset: ordo_disease {source="Orphanet:1460"}
synonym: "isolated coenzyme Q-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
synonym: "isolated complex III deficiency" RELATED [Orphanet:1460]
synonym: "isolated CoQ-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
synonym: "isolated mitochondrial respiratory chain complex III deficiency" EXACT [Orphanet:1460]
synonym: "isolated ubiquinone-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
xref: DOID:0111139 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:1460/attributed", source="ORDO:1460/ntbt", source="Orphanet:1460"}
xref: Orphanet:1460 {source="MONDO:equivalentTo"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
is_a: MONDO:0016805 {source="Orphanet:1460"} ! isolated oxidative phosphorylation complex disorder
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: exactMatch DOID:0111139
property_value: exactMatch Orphanet:1460

[Term]
id: MONDO:0015449
name: criss-cross heart
def: "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." [Orphanet:1461]
subset: ordo_morphological_anomaly {source="Orphanet:1461"}
synonym: "criss-cross atrioventricular relationships" EXACT [Orphanet:1461]
synonym: "superoinferior ventricles" EXACT [Orphanet:1461]
synonym: "twisted atrioventricular connections" EXACT [Orphanet:1461]
xref: ICD10:Q24.8 {source="Orphanet:1461", source="ORDO:1461/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003420 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1461 {source="MONDO:equivalentTo"}
xref: SCTID:253269002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019512 {source="Orphanet:1461"} ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010334
property_value: exactMatch http://identifiers.org/mesh/D003420
property_value: exactMatch http://identifiers.org/snomedct/253269002
property_value: exactMatch Orphanet:1461

[Term]
id: MONDO:0015450
name: triatrial heart
def: "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." [NCIT:C84651]
subset: ordo_group_of_disorders {source="Orphanet:1463"}
synonym: "Cor triatriatum" EXACT [Orphanet:1463]
xref: COHD:441108 {source="MONDO:equivalentTo"}
xref: GARD:0006194 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q24.2 {source="ORDO:1463/e", source="Orphanet:1463"}
xref: ICD9:746.82 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C84651 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: Orphanet:1463 {source="MONDO:equivalentTo"}
xref: SCTID:55510008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.07"}
is_a: MONDO:0020294 {source="Orphanet:1463"} ! atrial defect and interatrial communication
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009995
property_value: exactMatch http://identifiers.org/snomedct/55510008
property_value: exactMatch NCIT:C84651
property_value: exactMatch Orphanet:1463

[Term]
id: MONDO:0015451
name: univentricular heart
def: "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." [Orphanet:1464]
subset: ordo_morphological_anomaly {source="Orphanet:1464"}
synonym: "Double inlet left ventricle" EXACT [Orphanet:1464]
xref: ICD10:Q20.4 {source="Orphanet:1464", source="ORDO:1464/e"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10045545 {source="Orphanet:1464", source="ORDO:1464/e"}
xref: Orphanet:1464 {source="MONDO:equivalentTo"}
xref: SCTID:253283000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019820 {source="Orphanet:1464"} ! univentricular cardiopathy
property_value: exactMatch http://identifiers.org/meddra/10045545
property_value: exactMatch http://identifiers.org/snomedct/253283000
property_value: exactMatch Orphanet:1464

[Term]
id: MONDO:0015452
name: Coffin-Siris syndrome
def: "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." [Orphanet:1465]
subset: ordo_malformation_syndrome {source="Orphanet:1465"}
synonym: "CSS" EXACT [Orphanet:1465]
synonym: "dwarfism-onychodysplasia" EXACT [DOID:1925]
synonym: "fifth digit syndrome" EXACT [DOID:1925]
synonym: "intellectual disability with absent fifth fingernail and terminal phalanx" RELATED [GARD:0006124]
synonym: "short stature-onychodysplasia." EXACT [DOID:1925]
xref: DOID:1925 {source="MONDO:equivalentTo"}
xref: GARD:0006124 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:1465", source="ORDO:1465/attributed", source="ORDO:1465/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536436 {source="ORDO:1465/e", source="Orphanet:1465", source="MONDO:equivalentTo", source="DOID:1925"}
xref: NCIT:C35321 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1925"}
xref: OMIMPS:135900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="MONDO:equivalentTo"}
xref: SCTID:10007009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1925"}
xref: UMLS:C0265338 {source="ORDO:1465/e", source="Orphanet:1465", source="MONDO:equivalentTo", source="NCIT:C35321", source="DOID:1925"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1465", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1465"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019066 {source="Orphanet:1465", source="Orphanet:1465/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch DOID:1925
property_value: exactMatch http://identifiers.org/mesh/C536436
property_value: exactMatch http://identifiers.org/snomedct/10007009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265338
property_value: exactMatch NCIT:C35321
property_value: exactMatch Orphanet:1465

[Term]
id: MONDO:0015453
name: Cogan syndrome
def: "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases." [Orphanet:1467]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1467"}
synonym: "Cogan syndrome" EXACT [GARD:0001421]
synonym: "Cogan's syndrome" EXACT [DOID:0060216, ICD10:H16.32]
synonym: "diffuse interstitual keratitis" EXACT [DOID:0060216, ICD10:H16.32]
xref: DOID:0060216 {source="MONDO:equivalentTo"}
xref: GARD:0001421 {source="MONDO:equivalentTo"}
xref: ICD10:H16.3 {source="ORDO:1467/ntbt", source="Orphanet:1467"}
xref: ICD10:H16.32 {source="DOID:0060216"}
xref: MedDRA:10056667 {source="ORDO:1467/e", source="Orphanet:1467"}
xref: MESH:D055952 {source="ORDO:1467/e", source="MONDO:equivalentTo", source="Orphanet:1467", source="DOID:0060216", source="MONDO:ontobio"}
xref: Orphanet:1467 {source="MONDO:equivalentTo", source="DOID:0060216"}
xref: SCTID:405810005 {source="MONDO:equivalentTo", source="DOID:0060216", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN199560 {source="MONDO:equivalentTo"}
is_a: MONDO:0015488 {source="Orphanet:1467"} ! predominantly large-vessel vasculitis
is_a: MONDO:0015937 {source="Orphanet:1467"} ! rare inflammatory eye disease
is_a: MONDO:0024623 {source="Orphanet:1467"} ! otorhinolaryngologic disease
property_value: closeMatch http://identifiers.org/snomedct/193785001
property_value: closeMatch http://identifiers.org/snomedct/231906002
property_value: closeMatch http://identifiers.org/snomedct/26018001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271270
property_value: exactMatch DOID:0060216
property_value: exactMatch http://identifiers.org/meddra/10056667
property_value: exactMatch http://identifiers.org/mesh/D055952
property_value: exactMatch http://identifiers.org/snomedct/405810005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199560
property_value: exactMatch Orphanet:1467

[Term]
id: MONDO:0015454
name: multiple carboxylase deficiency
def: "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." [Orphanet:148]
subset: ordo_group_of_disorders {source="Orphanet:148"}
synonym: "MCD" EXACT [Orphanet:148]
synonym: "multiple carboxylase deficiency" EXACT [MONDO:0004610]
xref: DOID:857 {source="MONDO:equivalentTo"}
xref: GARD:0003824 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D81.81 {source="DOID:857"}
xref: ICD10:D81.819 {source="DOID:857", source="MONDO:equivalentTo"}
xref: ICD10:E53.8 {source="Orphanet:148", source="ORDO:148/attributed", source="ORDO:148/ntbt"}
xref: MedDRA:10028176 {source="Orphanet:148", source="ORDO:148/e"}
xref: MESH:D009100 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="ORDO:148/e"}
xref: Orphanet:148 {source="MONDO:equivalentTo"}
xref: UMLS:C0026755 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="ORDO:148/e"}
is_a: MONDO:0019214 {source="DOID:857", source="MESH:D009100"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019215 {source="Orphanet:148"} ! classic organic aciduria
is_a: MONDO:0019252 {source="Orphanet:148"} ! other metabolic disease with skin involvement
is_a: MONDO:0020698 ! inborn error of biotin metabolism
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/62151000119109
property_value: exactMatch DOID:857
property_value: exactMatch http://identifiers.org/meddra/10028176
property_value: exactMatch http://identifiers.org/mesh/D009100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026755
property_value: exactMatch Orphanet:148

[Term]
id: MONDO:0015455
name: gonococcal conjunctivitis
def: "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." [NCIT:C116816]
subset: gard_rare {source="GARD:0002546"}
subset: ordo_disease {source="Orphanet:1482"}
synonym: "conjunctivitis gonococcal" EXACT [NCIT:C116816]
synonym: "gonococcal ophthalmia neonatorum" EXACT [NCIT:C116816]
synonym: "gonococcal ophthalmia neonatorum" RELATED [NCIT:C116816]
xref: GARD:0002546 {source="MONDO:equivalentTo"}
xref: ICD10:A54.3+ {source="Orphanet:1482", source="ORDO:1482/e"}
xref: ICD10:A54.31 {source="MONDO:equivalentTo"}
xref: ICD10:H13.1* {source="Orphanet:1482", source="ORDO:1482/e"}
xref: NCIT:C116816 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.55"}
xref: Orphanet:1482 {source="MONDO:equivalentTo"}
xref: SCTID:231858009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea
is_a: MONDO:0006668 {source="MONDO:Redundant", source="NCIT:C116816"} ! bacterial conjunctivitis
is_a: MONDO:0015937 {source="Orphanet:1482"} ! rare inflammatory eye disease
property_value: exactMatch http://identifiers.org/snomedct/231858009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339166
property_value: exactMatch NCIT:C116816
property_value: exactMatch Orphanet:1482
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis xsd:anyURI {source="GARD:0002546"}

[Term]
id: MONDO:0015456
name: obsolete whooping cough
is_obsolete: true
replaced_by: MONDO:0005077

[Term]
id: MONDO:0015457
name: corpus callosum agenesis-double urinary collecting system syndrome
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1492"}
synonym: "agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies" RELATED [GARD:0000852]
synonym: "Ben Ari Shuper Mimouni syndrome" RELATED [GARD:0000852]
synonym: "Ben Ari-Shuper-Mimouni syndrome" EXACT [GARD:0001536, Orphanet:1492]
synonym: "corpus callosum agenesis - double urinary collecting system" RELATED [GARD:0001536]
synonym: "corpus callosum agenesis double urinary collecting" RELATED [GARD:0001536]
synonym: "corpus callosum agenesis-double urinary collecting system syndrome" EXACT [GARD:0001536]
xref: GARD:0000852 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0001536 {source="MONDO:equivalentTo"}
xref: MESH:C535427 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1492 {source="MONDO:equivalentTo", source="GARD:0001536"}
xref: UMLS:C2930897 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1492"}
is_a: MONDO:0016055 {source="Orphanet:1492"} ! syndrome with corpus callosum agenesis /dysgenesis as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930897
property_value: exactMatch Orphanet:1492
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting xsd:anyURI {source="GARD:0001536"}

[Term]
id: MONDO:0015458
name: intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
def: "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." [Orphanet:1495]
subset: ordo_malformation_syndrome {source="Orphanet:1495"}
synonym: "Da Silva syndrome" EXACT [Orphanet:1495]
synonym: "intellectual disability - hypoplastic corpus callosum - preauricular tag" RELATED [GARD:0012487]
xref: GARD:0012487 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:1495", source="ORDO:1495/attributed", source="ORDO:1495/ntbt"}
xref: Orphanet:1495 {source="MONDO:equivalentTo"}
xref: SCTID:722455002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.43"}
xref: UMLS:CN199578 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1495", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:1495"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 {source="Orphanet:1495"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/722455002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199578
property_value: exactMatch Orphanet:1495

[Term]
id: MONDO:0015459
name: nasopharyngeal carcinoma
def: "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." [NCIT:C3871]
subset: ordo_disease {source="Orphanet:150"}
synonym: "cancer of nasopharynx" EXACT [NCIT:C3871]
synonym: "cancer of the nasopharynx" EXACT [NCIT:C3871]
synonym: "carcinoma of nasopharynx" EXACT [DOID:9261, MONDO:patterns/carcinoma, NCIT:C3871]
synonym: "carcinoma of the nasopharynx" EXACT [NCIT:C3871]
synonym: "malignant nasopharyngeal tumor" EXACT [DOID:9261, NCIT:C9321]
synonym: "malignant neoplasm of anterior wall of nasopharynx" EXACT [DOID:9261]
synonym: "malignant neoplasm of lateral wall of nasopharynx" EXACT [DOID:9261]
synonym: "malignant neoplasm of nasopharyngeal wall" EXACT [DOID:9261]
synonym: "malignant neoplasm of nasopharyngeal wall NOS" RELATED EXCLUDE [DOID:9261, MTHICD9_2006:147.9]
synonym: "malignant neoplasm of nasopharynx" EXACT [DOID:9261, ICD9CM_2006:147, MTH:NOCODE]
synonym: "malignant neoplasm of nasopharynx (disorder) [ambiguous]" EXACT [DOID:9261]
synonym: "malignant neoplasm of other specified sites of nasopharynx" EXACT [DOID:9261]
synonym: "malignant neoplasm of posterior wall of nasopharynx" EXACT [DOID:9261]
synonym: "malignant neoplasm of roof of nasopharynx" EXACT [DOID:9261, MTHICD9_2006:147.0]
synonym: "malignant neoplasm of superior wall of nasopharynx" EXACT [DOID:9261]
synonym: "malignant tumor of anterior wall of nasopharynx" EXACT [DOID:9261, MTH:U001027]
synonym: "malignant tumor of lateral wall of nasopharynx" EXACT [DOID:9261, MTH:U003238]
synonym: "malignant tumor of posterior wall of nasopharynx" EXACT [DOID:9261, MTH:U001026]
synonym: "nasopharyngeal cancer" EXACT [NCIT:C3871]
synonym: "nasopharyngeal carcinoma" EXACT [DOID:9261, NCIT:C3871]
synonym: "nasopharyngeal throat cancer" EXACT [NCIT:C3871]
synonym: "nasopharynx cancer" EXACT EXCLUDE [DOID:9261]
synonym: "nasopharynx carcinoma" EXACT [MONDO:patterns/location]
synonym: "NPC" EXACT [NCIT:C3871]
synonym: "primary malignant neoplasm of anterior wall of nasopharynx" EXACT [DOID:9261]
synonym: "squamous cell carcinoma of the nasopharynx" EXACT [Orphanet:150]
xref: DOID:9261 {source="MONDO:equivalentTo"}
xref: ICD10:C11 {source="DOID:9261"}
xref: ICD10:C11.0 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"}
xref: ICD10:C11.1 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"}
xref: ICD10:C11.2 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"}
xref: ICD10:C11.3 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"}
xref: ICD10:C11.9 {source="DOID:9261"}
xref: ICD9:147 {source="DOID:9261"}
xref: ICD9:147.0 {source="DOID:9261"}
xref: ICD9:147.1 {source="DOID:9261"}
xref: ICD9:147.2 {source="DOID:9261", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:147.3 {source="DOID:9261"}
xref: ICD9:147.9 {source="MONDO:subClassOf", source="DOID:9261"}
xref: MedDRA:10028793 {source="ORDO:150/e", source="Orphanet:150"}
xref: MESH:C538339 {source="ORDO:150/e", source="MONDO:equivalentTo", source="Orphanet:150"}
xref: NCIT:C3871 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NPC {source="MONDO:equivalentTo"}
xref: Orphanet:150 {source="DOID:9261", source="MONDO:equivalentTo"}
xref: SCTID:363398003 {source="MONDO:kboom-pr-0.91/0.64/1.61", source="DOID:9261", source="MONDO:equivalentTo"}
xref: UMLS:C0153393 {source="DOID:9261", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0153394 {source="DOID:9261", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0153395 {source="DOID:9261", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0153396 {source="DOID:9261", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C2931822 {source="ORDO:150/e", source="MONDO:equivalentTo", source="NCIT:C3871", source="Orphanet:150"}
xref: UMLS:C3647449 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C3665551 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN199582 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C3871/inferred"} ! head and neck carcinoma
is_a: MONDO:0017344 {source="Orphanet:150"} ! Epstein-Barr virus-associated carcinoma
is_a: MONDO:0020035 {source="Orphanet:150"} ! rare otorhinolaryngologic tumor
is_a: MONDO:0021315 {source="MONDO:Redundant", source="MONDOLEX:0015459", source="NCIT:C3871", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of nasopharynx
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C3871"} ! carcinoma of pharynx
property_value: closeMatch http://identifiers.org/snomedct/187693006
property_value: closeMatch http://identifiers.org/snomedct/187696003
property_value: closeMatch http://identifiers.org/snomedct/187699005
property_value: closeMatch http://identifiers.org/snomedct/187700006
property_value: closeMatch http://identifiers.org/snomedct/187704002
property_value: closeMatch http://identifiers.org/snomedct/187707009
property_value: closeMatch http://identifiers.org/snomedct/363397008
property_value: closeMatch http://identifiers.org/snomedct/709031009
property_value: closeMatch http://identifiers.org/snomedct/93861003
property_value: closeMatch http://identifiers.org/snomedct/93919005
property_value: closeMatch http://identifiers.org/snomedct/93970001
property_value: closeMatch http://identifiers.org/snomedct/94078000
property_value: exactMatch DOID:9261
property_value: exactMatch http://identifiers.org/meddra/10028793
property_value: exactMatch http://identifiers.org/mesh/C538339
property_value: exactMatch http://identifiers.org/snomedct/363398003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3647449
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199582
property_value: exactMatch NCIT:C3871
property_value: exactMatch Orphanet:150

[Term]
id: MONDO:0015460
name: obsolete adrenocortical carcinoma
def: "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325]
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0015461
name: short rib-polydactyly syndrome
def: "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." [Orphanet:1505]
subset: ordo_group_of_disorders {source="Orphanet:1505"}
xref: ICD10:Q77.2 {source="ORDO:1505/attributed", source="ORDO:1505/ntbt", source="Orphanet:1505"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012779 {source="MONDO:equivalentTo", source="Orphanet:1505", source="ORDO:1505/e"}
xref: NCIT:C85065 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:1505 {source="MONDO:equivalentTo"}
xref: SCTID:205484001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C0036996 {source="MONDO:equivalentTo", source="NCIT:C85065", source="Orphanet:1505", source="ORDO:1505/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0015461", source="NCIT:C85065"} ! syndromic disease
is_a: MONDO:0015929 {source="Orphanet:1505"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:1505"} ! short rib dysplasia
property_value: exactMatch http://identifiers.org/mesh/D012779
property_value: exactMatch http://identifiers.org/snomedct/205484001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036996
property_value: exactMatch NCIT:C85065
property_value: exactMatch Orphanet:1505

[Term]
id: MONDO:0015462
name: thin ribs-tubular bones-dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1506"}
synonym: "Sharma-Kapoor-Ramji syndrome" EXACT [Orphanet:1506]
xref: ICD10:Q87.5 {source="ORDO:1506/attributed", source="ORDO:1506/ntbt", source="Orphanet:1506"}
xref: MESH:C537595 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1506 {source="MONDO:equivalentTo"}
xref: UMLS:C2931543 {source="MONDO:equivalentTo", source="ORDO:1506/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1506"}
is_a: MONDO:0019699 {source="Orphanet:1506"} ! slender bone dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931543
property_value: exactMatch Orphanet:1506

[Term]
id: MONDO:0015463
name: craniodigital syndrome-intellectual disability syndrome
def: "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." [Orphanet:1514]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1514"}
synonym: "craniodigital syndrome with mental retardation" RELATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital syndrome-mental retardation, Scott type" RELATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital-intellectual disability syndrome" RELATED [Orphanet:1514]
synonym: "Scott Bryant Graham syndrome" RELATED [GARD:0004776]
synonym: "Scott craniodigital syndrome" EXACT [Orphanet:1514]
synonym: "Scott craniodigital syndrome with mental retardation" RELATED [GARD:0004776, MESH:C537528]
synonym: "Scott-Bryant-Graham syndrome" EXACT [Orphanet:1514]
xref: GARD:0004776 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1514/attributed", source="ORDO:1514/ntbt", source="Orphanet:1514"}
xref: MESH:C537528 {source="MONDO:equivalentTo"}
xref: Orphanet:1514 {source="GARD:0004776", source="MONDO:equivalentTo"}
xref: SCTID:763665007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839311 {source="GARD:0004776", source="MONDO:equivalentTo", source="Orphanet:1514", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1514", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1514"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537528
property_value: exactMatch http://identifiers.org/omim/312860
property_value: exactMatch http://identifiers.org/snomedct/763665007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839311
property_value: exactMatch Orphanet:1514
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome xsd:anyURI {source="GARD:0004776"}

[Term]
id: MONDO:0015464
name: craniofrontonasal dysplasia-Poland anomaly syndrome
def: "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." [Orphanet:1521]
subset: ordo_malformation_syndrome {source="Orphanet:1521"}
synonym: "Webster-Deming syndrome" EXACT [Orphanet:1521]
xref: ICD10:Q87.8 {source="Orphanet:1521", source="ORDO:1521/attributed", source="ORDO:1521/ntbt"}
xref: Orphanet:1521 {source="MONDO:equivalentTo"}
xref: SCTID:720757001 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
xref: UMLS:CN199598 {source="MONDO:equivalentTo"}
is_a: MONDO:0015856 {source="Orphanet:1521"} ! syndromic breast hypoplasia/aplasia
is_a: MONDO:0016643 {source="Orphanet:1521"} ! frontonasal dysplasia
property_value: exactMatch http://identifiers.org/snomedct/720757001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199598
property_value: exactMatch Orphanet:1521

[Term]
id: MONDO:0015465
name: craniometaphyseal dysplasia
def: "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." [Orphanet:1522]
subset: ordo_malformation_syndrome {source="Orphanet:1522"}
xref: DOID:0080033 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:1522/attributed", source="ORDO:1522/ntbt", source="Orphanet:1522"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1522 {source="DOID:0080033", source="MONDO:equivalentTo"}
xref: SCTID:36601008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0002933 {source="DOID:0080033"} ! osteosclerosis
is_a: MONDO:0019703 {source="Orphanet:1522"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887594
property_value: exactMatch DOID:0080033
property_value: exactMatch http://identifiers.org/snomedct/36601008
property_value: exactMatch Orphanet:1522

[Term]
id: MONDO:0015466
name: cranio-osteoarthropathy
def: "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." [Orphanet:1525]
subset: gard_rare {source="GARD:0001564"}
subset: ordo_malformation_syndrome {source="Orphanet:1525"}
synonym: "cranio osteoarthropathy" RELATED [GARD:0001564]
synonym: "Currarino disease" EXACT [Orphanet:1525]
synonym: "Currarino idiopathic osteoarthropathy" EXACT [Orphanet:1525]
synonym: "Reginato-Schiapachasse syndrome" EXACT [Orphanet:1525]
xref: GARD:0001564 {source="MONDO:equivalentTo"}
xref: ICD10:M89.4 {source="ORDO:1525/attributed", source="ORDO:1525/ntbt", source="Orphanet:1525"}
xref: Orphanet:1525 {source="MONDO:equivalentTo"}
xref: SCTID:720753002 {source="MONDO:equivalentTo"}
xref: UMLS:CN199601 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016620 {source="Orphanet:1525"} ! primary hypertrophic osteoarthropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678439
property_value: exactMatch http://identifiers.org/snomedct/720753002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199601
property_value: exactMatch Orphanet:1525
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy xsd:anyURI {source="GARD:0001564"}

[Term]
id: MONDO:0015467
name: craniosynostosis, Philadelphia type
def: "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis (see this term), characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A (see this term)." [Orphanet:1527]
subset: ordo_malformation_syndrome {source="Orphanet:1527"}
xref: GARD:0001601 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1527/attributed", source="ORDO:1527/ntbt", source="Orphanet:1527"}
xref: Orphanet:1527 {source="MONDO:equivalentTo"}
xref: SCTID:720818003 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:1527"} ! syndromic craniosynostosis
is_a: MONDO:0017434 {source="Orphanet:1527"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832590
property_value: exactMatch http://identifiers.org/snomedct/720818003
property_value: exactMatch Orphanet:1527

[Term]
id: MONDO:0015468
name: craniosynostosis-cataract syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1530"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:1530", source="ORDO:1530/attributed", source="ORDO:1530/ntbt"}
xref: Orphanet:1530 {source="MONDO:equivalentTo"}
xref: UMLS:CN226684 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:1530"} ! syndromic craniosynostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226684
property_value: exactMatch Orphanet:1530

[Term]
id: MONDO:0015469
name: craniosynostosis
def: "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." [Orphanet:1531]
subset: ordo_group_of_disorders {source="Orphanet:1531"}
synonym: "craniosynostosis syndrome" EXACT [NCIT:C84655]
synonym: "CSO" RELATED [GARD:0006209]
synonym: "premature closure of cranial sutures" EXACT [DOID:2340, MTHICD9_2006:756.0]
xref: DOID:2340 {source="MONDO:equivalentTo"}
xref: GARD:0006209 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.0 {source="DOID:2340", source="ORDO:1531/e", source="ORDO:1531/specific", source="Orphanet:1531", source="MONDO:equivalentTo"}
xref: MedDRA:10048907 {source="ORDO:1531/e", source="Orphanet:1531"}
xref: MedDRA:10049889 {source="ORDO:1531/e", source="Orphanet:1531"}
xref: MESH:D003398 {source="DOID:2340", source="ORDO:1531/e", source="Orphanet:1531", source="MONDO:equivalentTo"}
xref: NCIT:C84655 {source="DOID:2340", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:123100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1531 {source="DOID:2340", source="MONDO:equivalentTo"}
xref: UMLS:C0010278 {source="DOID:2340", source="NCIT:C84655", source="ORDO:1531/e", source="Orphanet:1531", source="MONDO:equivalentTo"}
is_a: MONDO:0001411 {source="DOID:2340", source="MESH:D003398"} ! synostosis
is_a: MONDO:0018454 {source="Orphanet:1531"} ! dysostosis of genetic origin
is_a: MONDO:0020018 {source="Orphanet:1531"} ! cranial malformation
property_value: closeMatch http://identifiers.org/snomedct/205411004
property_value: closeMatch http://identifiers.org/snomedct/205414007
property_value: exactMatch DOID:2340
property_value: exactMatch http://identifiers.org/meddra/10048907
property_value: exactMatch http://identifiers.org/meddra/10049889
property_value: exactMatch http://identifiers.org/mesh/D003398
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010278
property_value: exactMatch NCIT:C84655
property_value: exactMatch Orphanet:1531

[Term]
id: MONDO:0015470
name: familial isolated dilated cardiomyopathy
def: "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." [Orphanet:154]
subset: ordo_disease {source="Orphanet:154"}
synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [Orphanet:154]
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="ORDO:154/attributed", source="ORDO:154/ntbt", source="Orphanet:154"}
xref: Orphanet:154 {source="MONDO:equivalentTo"}
xref: UMLS:CN199609 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016147 {source="Orphanet:154"} ! qualitative or quantitative defects of dystrophin
is_a: MONDO:0016333 {source="MONDOLEX:0015470", source="Orphanet:154"} ! familial dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199609
property_value: exactMatch Orphanet:154

[Term]
id: MONDO:0015471
name: benign focal seizures of adolescence
subset: ordo_disease {source="Orphanet:1544"}
synonym: "adolescent benign focal crisis" EXACT [Orphanet:1544]
xref: ICD10:G40.8 {source="ORDO:1544/ntbt", source="Orphanet:1544"}
xref: Orphanet:1544 {source="MONDO:equivalentTo"}
xref: SCTID:715425000 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C4275141 {source="MONDO:equivalentTo"}
is_a: MONDO:0020073 {source="Orphanet:1544"} ! adolescent-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/715425000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275141
property_value: exactMatch Orphanet:1544

[Term]
id: MONDO:0015472
name: obsolete cryptococcosis
is_obsolete: true
replaced_by: MONDO:0005724

[Term]
id: MONDO:0015473
name: cryptorchidism-arachnodactyly-intellectual disability syndrome
def: "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." [Orphanet:1548]
subset: ordo_malformation_syndrome {source="Orphanet:1548"}
synonym: "cryptorchidism arachnodactyly intellectual deficit" RELATED [GARD:0000860]
synonym: "Van Benthem-Driessen-Hanveld syndrome" EXACT [Orphanet:1548]
xref: GARD:0000860 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1548/attributed", source="ORDO:1548/ntbt", source="Orphanet:1548"}
xref: Orphanet:1548 {source="MONDO:equivalentTo"}
xref: UMLS:CN199616 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1548", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1548"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199616
property_value: exactMatch Orphanet:1548

[Term]
id: MONDO:0015474
name: cryptosporidiosis
def: "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea." [MESH:D003457]
subset: gard_rare {source="GARD:0006219"}
subset: ordo_disease {source="Orphanet:1549"}
synonym: "Cryptosporidial gastroenteritis" EXACT [DOID:1733]
synonym: "Cryptosporidioses" RELATED [MESH:D003457]
synonym: "Cryptosporidium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptosporidium disease or disorder" EXACT []
synonym: "Cryptosporidium infection" EXACT [NCIT:C128408]
synonym: "Cryptosporidium infectious disease" EXACT []
synonym: "infection by Cryptosporidium" EXACT [DOID:1733]
synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, ICD9CM_2006:007.4]
xref: COHD:194265 {source="MONDO:equivalentTo"}
xref: DOID:1733 {source="MONDO:equivalentTo"}
xref: GARD:0006219 {source="MONDO:equivalentTo"}
xref: ICD10:A07.2 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="ORDO:1549/e"}
xref: ICD9:007.4 {source="DOID:1733"}
xref: MedDRA:10011502 {source="Orphanet:1549", source="ORDO:1549/e"}
xref: MESH:D003457 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="MONDO:ontobio", source="ORDO:1549/e"}
xref: NCIT:C128408 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:1549 {source="MONDO:equivalentTo"}
xref: SCTID:66160001 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"}
xref: UMLS:C0010418 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="ORDO:1549/e", source="NCIT:C128408"}
xref: UMLS:C0520796 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005707 {source="DOID:1733", source="MESH:D003457", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis
is_a: MONDO:0024270 {source="MESH:D003457", source="MONDO:Entailed"} ! parasitic intestinal disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186126003
property_value: closeMatch http://identifiers.org/snomedct/240370009
property_value: closeMatch http://identifiers.org/snomedct/58777003
property_value: exactMatch DOID:1733
property_value: exactMatch http://identifiers.org/meddra/10011502
property_value: exactMatch http://identifiers.org/mesh/D003457
property_value: exactMatch http://identifiers.org/snomedct/66160001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010418
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520796
property_value: exactMatch NCIT:C128408
property_value: exactMatch Orphanet:1549
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis xsd:anyURI {source="GARD:0006219"}

[Term]
id: MONDO:0015475
name: rare head and neck malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:155832"}
xref: Orphanet:155832 {source="MONDO:equivalentTo"}
xref: UMLS:CN226686 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:155832"} ! developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226686
property_value: exactMatch Orphanet:155832
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015476
name: cysts and fistulae of the face and oral cavity
subset: ordo_group_of_disorders {source="Orphanet:155835"}
xref: ICD10:Q18.0 {source="ORDO:155835/ntbt", source="Orphanet:155835"}
xref: Orphanet:155835 {source="MONDO:equivalentTo"}
is_a: MONDO:0019936 {source="Orphanet:155835"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:155835

[Term]
id: MONDO:0015477
name: pinnae fistula or cyst
def: "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." [Orphanet:155838]
subset: ordo_morphological_anomaly {source="Orphanet:155838"}
xref: ICD10:Q18.8 {source="ORDO:155838/ntbt", source="Orphanet:155838"}
xref: Orphanet:155838 {source="MONDO:equivalentTo"}
is_a: MONDO:0015476 {source="Orphanet:155838"} ! cysts and fistulae of the face and oral cavity
property_value: exactMatch Orphanet:155838

[Term]
id: MONDO:0015478
name: paramedian facial cleft
subset: ordo_group_of_disorders {source="Orphanet:155867"}
synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [Orphanet:155867]
xref: ICD10:Q18.8 {source="ORDO:155867/ntbt", source="Orphanet:155867"}
xref: Orphanet:155867 {source="MONDO:equivalentTo"}
is_a: MONDO:0015411 {source="Orphanet:155867"} ! facial cleft
property_value: exactMatch Orphanet:155867

[Term]
id: MONDO:0015479
name: submucosal cleft palate
subset: ordo_morphological_anomaly {source="Orphanet:155878"}
xref: ICD10:Q35.9 {source="ORDO:155878/ntbt", source="Orphanet:155878"}
xref: Orphanet:155878 {source="MONDO:equivalentTo"}
is_a: MONDO:0016064 {source="Orphanet:155878"} ! cleft palate
property_value: exactMatch Orphanet:155878

[Term]
id: MONDO:0015480
name: coloboma of superior eyelid
def: "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." [Orphanet:155884]
comment: Editor note: TODO axioms
subset: ordo_morphological_anomaly {source="Orphanet:155884"}
synonym: "superior palpebral coloboma" EXACT [Orphanet:155884]
xref: ICD10:Q10.3 {source="Orphanet:155884", source="ORDO:155884/ntbt"}
xref: Orphanet:155884 {source="MONDO:equivalentTo"}
xref: SCTID:763132003 {source="MONDO:equivalentTo"}
is_a: MONDO:0015415 {source="Orphanet:155884"} ! oblique facial cleft
property_value: exactMatch http://identifiers.org/snomedct/763132003
property_value: exactMatch Orphanet:155884

[Term]
id: MONDO:0015481
name: coloboma of inferior eyelid
def: "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." [Orphanet:155889]
comment: Editor note: TODO axioms
subset: ordo_morphological_anomaly {source="Orphanet:155889"}
synonym: "Inferior palpebral coloboma" EXACT [Orphanet:155889]
xref: ICD10:Q10.3 {source="ORDO:155889/ntbt", source="Orphanet:155889"}
xref: Orphanet:155889 {source="MONDO:equivalentTo"}
xref: SCTID:763133008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015415 {source="Orphanet:155889"} ! oblique facial cleft
property_value: exactMatch http://identifiers.org/snomedct/763133008
property_value: exactMatch Orphanet:155889

[Term]
id: MONDO:0015482
name: otomandibular dysplasia
subset: ordo_group_of_disorders {source="Orphanet:155896"}
xref: Orphanet:155896 {source="MONDO:equivalentTo"}
is_a: MONDO:0015961 {source="Orphanet:155896", source="Orphanet:155896/inferred"} ! genetic head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:155896"} ! rare maxillo-facial surgical disease
is_a: MONDO:0019936 {source="Orphanet:155896"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:155896

[Term]
id: MONDO:0015483
name: mandibulofacial dysostosis
def: "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" [MESH:D008342]
subset: ordo_group_of_disorders {source="Orphanet:155899"}
synonym: "bilateral and symmetric oto-mandibular dysplasia" EXACT [Orphanet:155899]
xref: ICD10:Q75.4 {source="Orphanet:155899", source="ORDO:155899/e", source="ORDO:155899/specific"}
xref: MedDRA:10051456 {source="Orphanet:155899", source="ORDO:155899/e"}
xref: MESH:D008342 {source="MONDO:equivalentTo", source="Orphanet:155899", source="ORDO:155899/e"}
xref: Orphanet:155899 {source="MONDO:equivalentTo"}
is_a: MONDO:0015482 {source="Orphanet:155899"} ! otomandibular dysplasia
property_value: exactMatch http://identifiers.org/meddra/10051456
property_value: exactMatch http://identifiers.org/mesh/D008342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242387
property_value: exactMatch Orphanet:155899

[Term]
id: MONDO:0015484
name: cysticercosis
def: "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." [Orphanet:1560]
subset: ordo_disease {source="Orphanet:1560"}
synonym: "intestinal taenia solium infection" EXACT [DOID:10079]
synonym: "neurocysticercosis" EXACT [DOID:10079]
synonym: "pork tapeworm infection" EXACT [DOID:10079, MTHICD9_2006:123.0]
synonym: "tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [DOID:10079]
synonym: "tapeworm infection: intestinal taenia solum" EXACT [DOID:10079]
synonym: "tapeworm infection: pork" EXACT [DOID:10079]
synonym: "tenia solium infectious disease" EXACT [DOID:10079]
xref: COHD:440953 {source="MONDO:equivalentTo"}
xref: DOID:10079 {source="MONDO:equivalentTo", source="EFO:0007231"}
xref: EFO:0007231 {source="MONDO:equivalentTo"}
xref: GARD:0008194 {source="MONDO:equivalentTo"}
xref: ICD10:B69 {source="MONDO:equivalentTo", source="DOID:10079"}
xref: ICD10:B69.0 {source="Orphanet:1560", source="ORDO:1560/btnt"}
xref: ICD10:B69.1 {source="Orphanet:1560", source="ORDO:1560/btnt"}
xref: ICD10:B69.8 {source="Orphanet:1560", source="ORDO:1560/btnt"}
xref: ICD10:B69.9 {source="Orphanet:1560", source="ORDO:1560/btnt", source="DOID:10079"}
xref: ICD9:123.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10079"}
xref: MedDRA:10011775 {source="Orphanet:1560", source="ORDO:1560/e"}
xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="EFO:0007231", source="ORDO:1560/e", source="DOID:10079"}
xref: NCIT:C34520 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:10079"}
xref: Orphanet:1560 {source="MONDO:equivalentTo"}
xref: SCTID:59051007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.77/1.53", source="DOID:10079"}
xref: UMLS:C0010678 {source="Orphanet:1560", source="MONDO:equivalentTo", source="NCIT:C34520", source="ORDO:1560/e", source="DOID:10079"}
xref: UMLS:C0338437 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000367 {source="DOID:10079", source="MESH:D003551"} ! taeniasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/105684008
property_value: closeMatch http://identifiers.org/snomedct/187527007
property_value: exactMatch DOID:10079
property_value: exactMatch http://identifiers.org/meddra/10011775
property_value: exactMatch http://identifiers.org/mesh/D003551
property_value: exactMatch http://identifiers.org/snomedct/59051007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338437
property_value: exactMatch NCIT:C34520
property_value: exactMatch Orphanet:1560

[Term]
id: MONDO:0015485
name: primary hereditary glaucoma
subset: ordo_group_of_disorders {source="Orphanet:156005"}
synonym: "primary glaucoma" RELATED [Orphanet:156005]
xref: Orphanet:156005 {source="MONDO:equivalentTo"}
is_a: MONDO:0018174 {source="MONDOLEX:0015485", source="Orphanet:156005"} ! hereditary glaucoma
property_value: exactMatch Orphanet:156005

[Term]
id: MONDO:0015486
name: keratoconus (disease)
def: "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:156071"}
synonym: "conical cornea" EXACT [DOID:10126]
synonym: "KC" RELATED [GARD:0006824]
synonym: "keratoconus" EXACT [MONDO:ambiguous]
synonym: "noninflammatory corneal thining" RELATED [GARD:0006824]
xref: COHD:374362 {source="MONDO:equivalentTo"}
xref: DOID:10126 {source="MONDO:equivalentTo"}
xref: GARD:0006824 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0000563 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H18.6 {source="DOID:10126", source="ORDO:156071/e", source="Orphanet:156071", source="ORDO:156071/specific"}
xref: ICD10:H18.60 {source="DOID:10126"}
xref: ICD9:371.6 {source="DOID:10126"}
xref: ICD9:371.60 {source="DOID:10126", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10023353 {source="ORDO:156071/e", source="Orphanet:156071"}
xref: MESH:D007640 {source="DOID:10126", source="MONDO:equivalentTo", source="ORDO:156071/e", source="MONDO:ontobio", source="Orphanet:156071"}
xref: NCIT:C26806 {source="DOID:10126", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIMPS:148300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:156071 {source="DOID:10126", source="MONDO:equivalentTo"}
xref: SCTID:65636009 {source="DOID:10126", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0022578 {source="DOID:10126", source="NCIT:C26806", source="MONDO:equivalentTo", source="ORDO:156071/e", source="Orphanet:156071"}
is_a: MONDO:0000942 {source="DOID:10126", source="MESH:D007640", source="NCIT:C26806/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155160005
property_value: closeMatch http://identifiers.org/snomedct/193843006
property_value: closeMatch http://identifiers.org/snomedct/193846003
property_value: closeMatch http://identifiers.org/snomedct/267733008
property_value: exactMatch DOID:10126
property_value: exactMatch http://identifiers.org/meddra/10023353
property_value: exactMatch http://identifiers.org/mesh/D007640
property_value: exactMatch http://identifiers.org/snomedct/65636009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022578
property_value: exactMatch NCIT:C26806
property_value: exactMatch Orphanet:156071

[Term]
id: MONDO:0015487
name: fatal infantile encephalocardiomyopathy
def: "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." [Orphanet:1561]
comment: Editor note: check GARD xref
subset: gard_rare
subset: ordo_disease {source="Orphanet:1561"}
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [DOID:0050713]
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency" EXACT [Orphanet:1561]
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [DOID:0050713]
synonym: "fatal infantile COX deficiency" EXACT [DOID:0050713, Orphanet:1561]
synonym: "fatal infantile cytochrome C oxidase deficiency" RELATED [Orphanet:1561]
synonym: "fatal infantile encephalomyopathy" RELATED [GARD:0001113]
xref: DC:0000488 {source="MONDO:equivalentTo"}
xref: DOID:0050713 {source="MONDO:equivalentTo"}
xref: GARD:0001113 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="Orphanet:1561", source="ORDO:1561/attributed", source="ORDO:1561/ntbt"}
xref: Orphanet:1561 {source="MONDO:equivalentTo", source="DOID:0050713"}
xref: SCTID:718124006 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
is_a: MONDO:0016578 {source="Orphanet:1561"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858424
property_value: exactMatch DOID:0050713
property_value: exactMatch http://identifiers.org/snomedct/718124006
property_value: exactMatch Orphanet:1561
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy xsd:anyURI {source="GARD:0001113"}

[Term]
id: MONDO:0015488
name: predominantly large-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156140"}
xref: Orphanet:156140 {source="MONDO:equivalentTo"}
is_a: MONDO:0018882 {source="Orphanet:156140"} ! vasculitis
property_value: exactMatch Orphanet:156140

[Term]
id: MONDO:0015489
name: predominantly medium-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156143"}
xref: Orphanet:156143 {source="MONDO:equivalentTo"}
is_a: MONDO:0018882 {source="Orphanet:156143"} ! vasculitis
property_value: exactMatch Orphanet:156143

[Term]
id: MONDO:0015490
name: predominantly small-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156146"}
xref: Orphanet:156146 {source="MONDO:equivalentTo"}
is_a: MONDO:0018882 {source="Orphanet:156146"} ! vasculitis
property_value: exactMatch Orphanet:156146

[Term]
id: MONDO:0015491
name: immune complex mediated vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156149"}
xref: Orphanet:156149 {source="MONDO:equivalentTo"}
is_a: MONDO:0015490 {source="Orphanet:156149"} ! predominantly small-vessel vasculitis
property_value: exactMatch Orphanet:156149

[Term]
id: MONDO:0015492
name: Anti-neutrophil cytoplasmic antibody-associated vasculitis
def: "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [MESH:D056648]
subset: ordo_group_of_disorders {source="Orphanet:156152"}
synonym: "AAV" EXACT [Orphanet:156152]
synonym: "ANCA-associated vasculitis" EXACT [Orphanet:156152]
synonym: "antineutrophil cytoplasmic antibody-associated vasculitis" EXACT [Orphanet:156152]
xref: GARD:0013011 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:D056648 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:156152/e", source="Orphanet:156152"}
xref: Orphanet:156152 {source="MONDO:equivalentTo"}
xref: UMLS:C2717865 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:156152/e", source="Orphanet:156152"}
is_a: MONDO:0015490 {source="Orphanet:156152"} ! predominantly small-vessel vasculitis
is_a: MONDO:0017038 {source="Orphanet:156152"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
property_value: exactMatch http://identifiers.org/mesh/D056648
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717865
property_value: exactMatch Orphanet:156152

[Term]
id: MONDO:0015493
name: lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
subset: ordo_disease {source="Orphanet:156156"}
xref: Orphanet:156156 {source="MONDO:equivalentTo"}
is_a: MONDO:0020087 {source="Orphanet:156156"} ! genetic lipodystrophy
property_value: exactMatch Orphanet:156156

[Term]
id: MONDO:0015494
name: isolated dystonia
def: "A dystonia (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:156159"}
synonym: "isolated dystonic disorder" EXACT []
synonym: "nonsyndromic dystonia (disease)" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic dystonic disorder" EXACT [MONDO:patterns/isolated]
synonym: "Pure dystonia" EXACT [Orphanet:156159]
xref: ICD10:G24.1 {source="Orphanet:156159", source="ORDO:156159/attributed", source="ORDO:156159/ntbt"}
xref: Orphanet:156159 {source="MONDO:equivalentTo"}
is_a: MONDO:0044807 {source="Orphanet:156159"} ! inherited dystonia
intersection_of: MONDO:0003441 ! dystonic disorder
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:156159

[Term]
id: MONDO:0015495
name: otomandibular dysplasia associated with monogenic syndromes
subset: ordo_group_of_disorders {source="Orphanet:156202"}
xref: Orphanet:156202 {source="MONDO:equivalentTo"}
xref: UMLS:CN199632 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015482 {source="Orphanet:156202"} ! otomandibular dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199632
property_value: exactMatch Orphanet:156202

[Term]
id: MONDO:0015496
name: macroglossia
def: "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" [MESH:D008260]
subset: ordo_group_of_disorders {source="Orphanet:156207"}
synonym: "enlarged tongue" RELATED [GARD:0003342]
synonym: "giant tongue" RELATED [GARD:0003342]
xref: GARD:0003342 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q38.2 {source="Orphanet:156207", source="ORDO:156207/e", source="ORDO:156207/specific"}
xref: MedDRA:10025391 {source="Orphanet:156207", source="ORDO:156207/e"}
xref: MESH:D008260 {source="MONDO:equivalentTo", source="Orphanet:156207", source="ORDO:156207/e"}
xref: Orphanet:156207 {source="MONDO:equivalentTo"}
xref: UMLS:C0024421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:156207", source="ORDO:156207/e"}
is_a: MONDO:0015475 {source="Orphanet:156207"} ! rare head and neck malformation
is_a: MONDO:0015961 {source="Orphanet:156207"} ! genetic head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:156207"} ! rare maxillo-facial surgical disease
property_value: exactMatch http://identifiers.org/meddra/10025391
property_value: exactMatch http://identifiers.org/mesh/D008260
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009677
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024421
property_value: exactMatch Orphanet:156207

[Term]
id: MONDO:0015497
name: hypoglossia/aglossia
subset: ordo_group_of_disorders {source="Orphanet:156212"}
xref: ICD10:Q38.3 {source="Orphanet:156212", source="ORDO:156212/inclusion", source="ORDO:156212/ntbt"}
xref: Orphanet:156212 {source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:156212"} ! rare head and neck malformation
is_a: MONDO:0015961 {source="Orphanet:156212"} ! genetic head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:156212"} ! rare maxillo-facial surgical disease
property_value: exactMatch Orphanet:156212

[Term]
id: MONDO:0015498
name: oromandibular-limb anomalies syndrome
subset: ordo_group_of_disorders {source="Orphanet:156215"}
xref: Orphanet:156215 {source="MONDO:equivalentTo"}
xref: UMLS:CN199634 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015497 {source="Orphanet:156215"} ! hypoglossia/aglossia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199634
property_value: exactMatch Orphanet:156215

[Term]
id: MONDO:0015499
name: paralytic facial malformation
subset: ordo_group_of_disorders {source="Orphanet:156224"}
xref: ICD10:Q87.0 {source="Orphanet:156224", source="ORDO:156224/attributed", source="ORDO:156224/ntbt"}
xref: Orphanet:156224 {source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:156224"} ! rare head and neck malformation
is_a: MONDO:0015961 {source="Orphanet:156224"} ! genetic head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:156224"} ! rare maxillo-facial surgical disease
property_value: exactMatch Orphanet:156224

[Term]
id: MONDO:0015500
name: facial arteriovenous malformation
def: "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." [Orphanet:156230]
subset: gard_rare {source="GARD:0012663"}
subset: ordo_group_of_disorders {source="Orphanet:156230"}
xref: GARD:0012663 {source="MONDO:equivalentTo"}
xref: ICD10:Q27.3 {source="ORDO:156230/ntbt", source="Orphanet:156230"}
xref: Orphanet:156230 {source="MONDO:equivalentTo"}
is_a: MONDO:0001256 {source="Orphanet:156230"} ! arteriovenous hemangioma/malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0016234"} ! rare
property_value: exactMatch Orphanet:156230
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation xsd:anyURI {source="GARD:0012663"}

[Term]
id: MONDO:0015501
name: syndrome or malformation associated with head and neck malformations
subset: ordo_group_of_disorders {source="Orphanet:156237"}
xref: Orphanet:156237 {source="MONDO:equivalentTo"}
xref: UMLS:CN199635 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:156237"} ! rare head and neck malformation
is_a: MONDO:0015961 {source="Orphanet:156237", source="Orphanet:156237/inferred"} ! genetic head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:156237"} ! rare maxillo-facial surgical disease
is_a: MONDO:0024623 {source="Orphanet:156237"} ! otorhinolaryngologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199635
property_value: exactMatch Orphanet:156237

[Term]
id: MONDO:0015502
name: pinnae and external auditory canal anomaly
subset: ordo_group_of_disorders {source="Orphanet:156243"}
xref: Orphanet:156243 {source="MONDO:equivalentTo"}
is_a: MONDO:0018562 {source="Orphanet:156243"} ! genetic otorhinolaryngological malformation
is_a: MONDO:0019936 {source="Orphanet:156243"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:156243

[Term]
id: MONDO:0015503
name: nose and cavum anomaly
subset: ordo_group_of_disorders {source="Orphanet:156246"}
xref: ICD10:Q30.0 {source="Orphanet:156246", source="MONDO:superClassOf", source="ORDO:156246/btnt"}
xref: ICD10:Q30.1 {source="Orphanet:156246", source="ORDO:156246/btnt"}
xref: ICD10:Q30.2 {source="Orphanet:156246", source="ORDO:156246/btnt"}
xref: ICD10:Q30.3 {source="Orphanet:156246", source="ORDO:156246/btnt"}
xref: ICD10:Q30.8 {source="Orphanet:156246", source="ORDO:156246/btnt"}
xref: ICD10:Q30.9 {source="Orphanet:156246", source="ORDO:156246/btnt"}
xref: Orphanet:156246 {source="MONDO:equivalentTo"}
is_a: MONDO:0019936 {source="Orphanet:156246"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:156246

[Term]
id: MONDO:0015504
name: larynx anomaly
subset: ordo_group_of_disorders {source="Orphanet:156249"}
xref: ICD10:Q31.0 {source="ORDO:156249/btnt", source="Orphanet:156249"}
xref: ICD10:Q31.1 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"}
xref: ICD10:Q31.3 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"}
xref: ICD10:Q31.5 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"}
xref: ICD10:Q31.8 {source="ORDO:156249/btnt", source="Orphanet:156249"}
xref: ICD10:Q31.9 {source="ORDO:156249/btnt", source="Orphanet:156249"}
xref: Orphanet:156249 {source="MONDO:equivalentTo"}
is_a: MONDO:0019936 {source="Orphanet:156249"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:156249

[Term]
id: MONDO:0015505
name: tracheal anomaly
subset: ordo_group_of_disorders {source="Orphanet:156252"}
xref: Orphanet:156252 {source="MONDO:equivalentTo"}
is_a: MONDO:0019936 {source="Orphanet:156252"} ! rare otorhinolaryngological malformation
property_value: exactMatch Orphanet:156252

[Term]
id: MONDO:0015506
name: rare syndrome with cardiac malformations
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:156532"}
xref: Orphanet:156532 {source="MONDO:equivalentTo"}
xref: UMLS:CN199638 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="Orphanet:156532"} ! heart disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020003", source="MONDO:0020029"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199638
property_value: exactMatch Orphanet:156532
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015507
name: obsolete rare genetic hepatic disease
def: "Rare genetic liver disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:156601"}
synonym: "rare genetic liver disease" EXACT []
xref: Orphanet:156601 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199640 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199640
property_value: exactMatch Orphanet:156601
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005154

[Term]
id: MONDO:0015508
name: genetic parenchymatous liver disease
subset: ordo_group_of_disorders {source="Orphanet:156604"}
xref: Orphanet:156604 {source="MONDO:equivalentTo"}
xref: UMLS:CN199641 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005154 {source="MONDO:Redundant", source="Orphanet:156604"} ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015507"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199641
property_value: exactMatch Orphanet:156604

[Term]
id: MONDO:0015509
name: genetic biliary tract disease
def: "Genetic biliary tract disease." []
subset: ordo_group_of_disorders {source="Orphanet:156607"}
synonym: "genetic biliary tract disease" EXACT [MONDO:patterns/genetic]
xref: Orphanet:156607 {source="MONDO:equivalentTo"}
xref: UMLS:CN199642 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0004868 ! biliary tract disease
is_a: MONDO:0005154 {source="MONDO:Redundant", source="Orphanet:156607"} ! liver disease
intersection_of: MONDO:0004868 ! biliary tract disease
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0015507"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199642
property_value: exactMatch Orphanet:156607

[Term]
id: MONDO:0015510
name: obsolete rare genetic respiratory disease
def: "Rare genetic respiratory system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:156610"}
synonym: "rare genetic respiratory system disease" EXACT []
xref: Orphanet:156610 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199643 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199643
property_value: exactMatch Orphanet:156610
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005087

[Term]
id: MONDO:0015511
name: obsolete rare genetic urogenital disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:156619"}
xref: Orphanet:156619 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199644 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199644
property_value: exactMatch Orphanet:156619
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021145

[Term]
id: MONDO:0015512
name: genetic hypertension
def: "An instance of hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:156629"}
synonym: "genetic hypertension" EXACT [MONDO:patterns/genetic]
synonym: "genetic hypertensive disorder" EXACT [MONDO:patterns/genetic]
xref: Orphanet:156629 {source="MONDO:equivalentTo"}
xref: UMLS:C0598428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005044 {source="MONDO:Redundant", source="Orphanet:156629"} ! hypertensive disorder
is_a: MONDO:0019748 {source="Orphanet:156629"} ! rare cause of hypertension
intersection_of: MONDO:0005044 ! hypertensive disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:156629"} ! kidney disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0598428
property_value: exactMatch Orphanet:156629

[Term]
id: MONDO:0015513
name: obsolete rare genetic endocrine disease
def: "A form of endocrine system disease that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:156638"}
synonym: "rare genetic endocrine system disease" EXACT []
xref: Orphanet:156638 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199645 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199645
property_value: exactMatch Orphanet:156638
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005151

[Term]
id: MONDO:0015514
name: genetic endocrine growth disease
subset: ordo_group_of_disorders {source="Orphanet:156643"}
synonym: "growth disorder" EXACT [MONDO:cjm]
xref: MESH:D006130 {source="MONDO:equivalentTo"}
xref: Orphanet:156643 {source="MONDO:equivalentTo"}
xref: UMLS:CN237424 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:156643"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D006130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237424
property_value: exactMatch Orphanet:156643

[Term]
id: MONDO:0015515
name: carnitine palmitoyltransferase II deficiency
def: "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." [Orphanet:157]
subset: gard_rare {source="GARD:0001121"}
subset: ordo_disease {source="Orphanet:157"}
synonym: "Carnitine palmitoyltransferase 2 deficiency" RELATED [GARD:0001121]
synonym: "Carnitine palmitoyltransferase deficiency type 2" EXACT [Orphanet:157]
synonym: "Carnitine palmitoyltransferase II (CPT II) deficiency" RELATED [GARD:0001121]
synonym: "CPT II deficiency" EXACT [NCIT:C114766]
synonym: "CPT-II" EXACT [DOID:0060235]
synonym: "CPT2" EXACT [Orphanet:157]
synonym: "CPTII" EXACT [Orphanet:157]
synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
synonym: "late-onset carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
xref: DOID:0060235 {source="MONDO:equivalentTo"}
xref: GARD:0001121 {source="MONDO:equivalentTo"}
xref: HGNC:2330 {source="GARD:0001121"}
xref: ICD10:E71.3 {source="ORDO:157/attributed", source="ORDO:157/ntbt", source="Orphanet:157"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535589 {source="DOID:0060235", source="MONDO:equivalentTo", source="ORDO:157/e", source="Orphanet:157"}
xref: NCIT:C114766 {source="DOID:0060235", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:157 {source="DOID:0060235", source="MONDO:equivalentTo"}
xref: SCTID:238002005 {source="DOID:0060235", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342790 {source="DOID:0060235", source="MONDO:equivalentTo", source="NCIT:C114766", source="ORDO:157/e", source="Orphanet:157"}
is_a: MONDO:0016117 {source="Orphanet:157"} ! muscular lipidosis
is_a: MONDO:0017716 {source="Orphanet:157"} ! disorder of carnitine cycle and carnitine transport
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0060235
property_value: exactMatch http://identifiers.org/mesh/C535589
property_value: exactMatch http://identifiers.org/snomedct/238002005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342790
property_value: exactMatch NCIT:C114766
property_value: exactMatch Orphanet:157
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency xsd:anyURI {source="GARD:0001121"}

[Term]
id: MONDO:0015516
name: symbrachydactyly of hands and feet
def: "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." [Orphanet:1570]
subset: ordo_malformation_syndrome {source="Orphanet:1570"}
synonym: "De Smet-Fabry-Fryns syndrome" EXACT [Orphanet:1570]
xref: ICD10:Q73.8 {source="ORDO:1570/attributed", source="ORDO:1570/ntbt", source="Orphanet:1570"}
xref: Orphanet:1570 {source="MONDO:equivalentTo"}
is_a: MONDO:0017424 {source="Orphanet:1570"} ! non-syndromic brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931719
property_value: exactMatch Orphanet:1570

[Term]
id: MONDO:0015517
name: common variable immunodeficiency
def: "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." [Orphanet:1572]
subset: ordo_disease {source="Orphanet:1572"}
synonym: "acquired agammaglobulinemia" RELATED [DOID:12177, NCIT:C26725]
synonym: "acquired hypogammaglobulinemia" RELATED [DOID:12177]
synonym: "common variable agammaglobulinemia" EXACT [DOID:12177]
synonym: "common variable hypogamma-globulinemia" RELATED [GARD:0006140]
synonym: "common variable immune deficiency" RELATED [GARD:0006140]
synonym: "CVID" EXACT [DOID:12177, Orphanet:1572]
synonym: "hypogamma-globulinemia, acquired" RELATED [GARD:0006140]
synonym: "idiopathic immunoglobulin deficiency" EXACT [Orphanet:1572]
synonym: "Immunoglobulin deficiency, late-onset" RELATED [GARD:0006140]
synonym: "primary antibody deficiency" EXACT [Orphanet:1572]
synonym: "primary hypogammaglobulinemia" EXACT [Orphanet:1572]
synonym: "secondary hypogammaglobulinemia" EXACT [NCIT:C26725]
synonym: "sporadic hypogammaglobulinemia" EXACT [DOID:12177, MTHICD9_2006:279.06]
xref: COHD:435228 {source="MONDO:equivalentTo"}
xref: DOID:12177 {source="MONDO:equivalentTo"}
xref: GARD:0006140 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D83 {source="DOID:12177"}
xref: ICD10:D83.0 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"}
xref: ICD10:D83.1 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"}
xref: ICD10:D83.2 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"}
xref: ICD10:D83.8 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"}
xref: ICD10:D83.9 {source="Orphanet:1572", source="ORDO:1572/specific", source="DOID:12177", source="ORDO:1572/btnt"}
xref: ICD9:279.06 {source="MONDO:equivalentTo", source="i2s", source="DOID:12177"}
xref: MedDRA:10021449 {source="Orphanet:1572", source="ORDO:1572/e"}
xref: MESH:D017074 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO:equivalentTo", source="DOID:12177"}
xref: NCIT:C26725 {source="MONDO:kboom-pr-0.90/0.78/0.34", source="MONDO:equivalentTo"}
xref: OMIMPS:607594 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="MONDO:equivalentTo", source="DOID:12177"}
xref: SCTID:23238000 {source="MONDO:equivalentTo", source="DOID:12177", source="MONDO:kboom-pr-0.90/0.75/0.49"}
xref: UMLS:C0009447 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO:equivalentTo", source="DOID:12177", source="NCIT:C26725"}
is_a: MONDO:0015356 {source="Orphanet:1572", source="linkedlifedata"} ! hereditary neoplastic syndrome
is_a: MONDO:0016463 {source="MONDOLEX:0015517", source="NCIT:C26725"} ! syndromic agammaglobulinemia
property_value: closeMatch http://identifiers.org/snomedct/191010004
property_value: exactMatch DOID:12177
property_value: exactMatch http://identifiers.org/meddra/10021449
property_value: exactMatch http://identifiers.org/mesh/D017074
property_value: exactMatch http://identifiers.org/snomedct/23238000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009447
property_value: exactMatch NCIT:C26725
property_value: exactMatch Orphanet:1572

[Term]
id: MONDO:0015518
name: infantile bilateral striatal necrosis
def: "Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." [Orphanet:1576]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1576"}
synonym: "IBSN" EXACT [GARD:0005040, Orphanet:1576]
synonym: "infantile bilateral striatal necrosis" EXACT [GARD:0005040]
synonym: "infantile striatonigral degeneration" EXACT [Orphanet:1576]
synonym: "infantile striatonigral necrosis" EXACT [Orphanet:1576]
synonym: "SNDI" RELATED [GARD:0005040]
synonym: "striatal degeneration familial" RELATED [GARD:0005040]
synonym: "striatonigral degeneration infantile" RELATED [GARD:0005040]
xref: GARD:0005040 {source="MONDO:equivalentTo"}
xref: ICD10:G23.2 {source="MONDO:relatedTo", source="Orphanet:1576", source="ORDO:1576/attributed", source="ORDO:1576/ntbt"}
xref: Orphanet:1576 {source="MONDO:equivalentTo", source="GARD:0005040"}
xref: SCTID:718174008 {source="MONDO:kboom-pr-0.95/0.75/1.91", source="MONDO:equivalentTo"}
xref: UMLS:C0795996 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:1576", source="MONDO:equivalentTo", source="GARD:0005040"}
is_a: MONDO:0017641 {source="Orphanet:1576"} ! miscellaneous movement disorder due to neurodegenerative disease
relationship: excluded_subClassOf MONDO:0015983 {source="Orphanet:1576"} ! obsolete rare genetic syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0017662 {source="Orphanet:1576"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
property_value: exactMatch http://identifiers.org/snomedct/718174008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795996
property_value: exactMatch Orphanet:1576

[Term]
id: MONDO:0015519
name: congenital or early infantile CACH syndrome
subset: ordo_clinical_subtype {source="Orphanet:157713"}
xref: ICD10:E75.2 {source="ORDO:157713/attributed", source="ORDO:157713/ntbt", source="Orphanet:157713"}
xref: Orphanet:157713 {source="MONDO:equivalentTo"}
is_a: MONDO:0011380 {source="MONDOLEX:0015519", source="Orphanet:157713"} ! leukoencephalopathy with vanishing white matter
property_value: exactMatch Orphanet:157713

[Term]
id: MONDO:0015520
name: late infantile CACH syndrome
subset: ordo_clinical_subtype {source="Orphanet:157716"}
xref: ICD10:E75.2 {source="ORDO:157716/attributed", source="ORDO:157716/ntbt", source="Orphanet:157716"}
xref: Orphanet:157716 {source="MONDO:equivalentTo"}
xref: UMLS:CN199659 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011380 {source="MONDOLEX:0015520", source="Orphanet:157716"} ! leukoencephalopathy with vanishing white matter
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199659
property_value: exactMatch Orphanet:157716

[Term]
id: MONDO:0015521
name: juvenile or adult CACH syndrome
subset: ordo_clinical_subtype {source="Orphanet:157719"}
xref: ICD10:E75.2 {source="ORDO:157719/attributed", source="ORDO:157719/ntbt", source="Orphanet:157719"}
xref: Orphanet:157719 {source="MONDO:equivalentTo"}
xref: UMLS:CN199660 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011380 {source="MONDOLEX:0015521", source="Orphanet:157719"} ! leukoencephalopathy with vanishing white matter
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199660
property_value: exactMatch Orphanet:157719

[Term]
id: MONDO:0015522
name: situs ambiguus
subset: ordo_morphological_anomaly {source="Orphanet:157769"}
synonym: "incomplete situs inversus" EXACT [Orphanet:157769]
synonym: "partial situs inversus" EXACT [Orphanet:157769]
synonym: "situs ambiguous" EXACT [Orphanet:157769]
xref: GARD:0010875 {source="MONDO:equivalentTo"}
xref: ICD10:Q89.3 {source="ORDO:157769/attributed", source="ORDO:157769/ntbt", source="Orphanet:157769", source="MONDO:directSiblingOf"}
xref: MedDRA:10059119 {source="Orphanet:157769", source="ORDO:157769/e"}
xref: Orphanet:157769 {source="MONDO:equivalentTo"}
xref: SCTID:14821001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0017131 {source="Orphanet:157769"} ! genetic cardiac anomaly
is_a: MONDO:0018677 {source="MONDOLEX:0015522", source="Orphanet:157769"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/meddra/10059119
property_value: exactMatch http://identifiers.org/snomedct/14821001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1167664
property_value: exactMatch Orphanet:157769

[Term]
id: MONDO:0015523
name: epithelioid hemangioendothelioma
def: "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." [NCIT:C3800]
subset: ordo_disease {source="Orphanet:157791"}
synonym: "epithelioid angioendothelioma" EXACT [NCIT:C3800]
synonym: "epithelioid angiosarcoma" EXACT [NCIT:C3800]
synonym: "epithelioid hemangioendothelioma" EXACT [NCIT:C3800]
synonym: "malignant epithelioid hemangioendothelioma" EXACT [MONDO:0000899]
xref: DOID:0080190 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="ORDO:157791/attributed", source="ORDO:157791/ntbt", source="Orphanet:157791"}
xref: ICDO:9130/3 {source="NCIT:C3800"}
xref: ICDO:9133/1 {source="NCIT:C3800"}
xref: ICDO:9133/3 {source="NCIT:C3800"}
xref: MESH:D018323 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:157791/e", source="Orphanet:157791"}
xref: NCIT:C3800 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.10", source="DOID:0080190"}
xref: ONCOTREE:EHAE {source="MONDO:equivalentTo"}
xref: Orphanet:157791 {source="MONDO:equivalentTo"}
xref: SCTID:403981003 {source="MONDO:kboom-pr-1.00/0.84/14.76", source="MONDO:equivalentTo"}
xref: UMLS:C0206732 {source="MONDO:equivalentTo", source="NCIT:C3800", source="ORDO:157791/e", source="Orphanet:157791"}
is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800"} ! vascular cancer
is_a: MONDO:0018729 {source="Orphanet:157791"} ! genetic vascular tumor
is_a: MONDO:0021121 {source="MESH:D018323", source="NCIT:C3800", source="linkedlifedata"} ! hemangioendothelioma
property_value: exactMatch DOID:0080190
property_value: exactMatch http://identifiers.org/mesh/D018323
property_value: exactMatch http://identifiers.org/snomedct/403981003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206732
property_value: exactMatch NCIT:C3800
property_value: exactMatch Orphanet:157791

[Term]
id: MONDO:0015524
name: hyperplastic polyposis syndrome
def: "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." [Orphanet:157798]
subset: ordo_disease {source="Orphanet:157798"}
synonym: "serrated polyposis" EXACT [Orphanet:157798]
xref: ICD10:D12.6 {source="Orphanet:157798", source="ORDO:157798/attributed", source="ORDO:157798/ntbt"}
xref: Orphanet:157798 {source="MONDO:equivalentTo"}
xref: SCTID:763536006 {source="MONDO:equivalentTo"}
xref: UMLS:CN199665 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015185 {source="Orphanet:157798"} ! intestinal polyposis syndrome
is_a: MONDO:0018188 {source="Orphanet:157798"} ! genetic intestinal polyposis
property_value: exactMatch http://identifiers.org/snomedct/763536006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199665
property_value: exactMatch Orphanet:157798

[Term]
id: MONDO:0015525
name: congenital pseudoarthrosis of the limbs
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:157808"}
synonym: "congenital pseudarthrosis of the limbs" EXACT [Orphanet:157808]
synonym: "congenital pseudoarthrosis" RELATED [GARD:0009722]
xref: GARD:0009722 {source="MONDO:equivalentTo"}
xref: MESH:C535762 {source="MONDO:equivalentTo"}
xref: Orphanet:157808 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:157808"} ! non-syndromic limb malformation
is_a: MONDO:0018455 {source="Orphanet:157808"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0332881
property_value: exactMatch http://identifiers.org/mesh/C535762
property_value: exactMatch Orphanet:157808
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis xsd:anyURI {source="GARD:0009722"}

[Term]
id: MONDO:0015526
name: cold-induced sweating syndrome
def: "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." [Orphanet:157820]
subset: ordo_disease {source="Orphanet:157820"}
synonym: "CISS" EXACT [Orphanet:157820]
synonym: "Crisponi syndrome" EXACT EXCLUDE [DOID:0060294]
synonym: "Sohar-Crisponi syndrome" EXACT [DOID:0060294]
xref: DOID:0060294 {source="MONDO:equivalentTo"}
xref: ICD10:G90.8 {source="Orphanet:157820", source="ORDO:157820/attributed", source="ORDO:157820/ntbt"}
xref: OMIMPS:272430 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:157820 {source="MONDO:equivalentTo", source="DOID:0060294"}
xref: SCTID:702363009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.42", source="DOID:0060294"}
xref: UMLS:CN043579 {source="MONDO:equivalentTo"}
is_a: MONDO:0018431 {source="Orphanet:157820"} ! cold-induced sweating syndrome - hyperthermia spectrum
property_value: exactMatch DOID:0060294
property_value: exactMatch http://identifiers.org/snomedct/702363009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043579
property_value: exactMatch Orphanet:157820

[Term]
id: MONDO:0015528
name: congenital epulis
def: "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." [NCIT:C4675]
subset: ordo_disease {source="Orphanet:157826"}
synonym: "congenital Epulides" EXACT [DOID:7280]
synonym: "congenital epulis" EXACT [DOID:7280, NCIT:C4675]
synonym: "congenital gingival cell tumor" EXACT [Orphanet:157826]
synonym: "congenital granular cell tumor" EXACT [NCIT:C4675, Orphanet:157826]
synonym: "gingival granular cell tumor" RELATED [NCIT:C4675]
synonym: "Neumann tumor" EXACT [Orphanet:157826]
xref: DOID:7280 {source="MONDO:equivalentTo"}
xref: MESH:D005887 {source="MONDO:equivalentTo", source="DOID:7280", source="MONDO:ontobio"}
xref: NCIT:C4675 {source="MONDO:equivalentTo", source="DOID:7280"}
xref: Orphanet:157826 {source="MONDO:equivalentTo"}
xref: SCTID:360525006 {source="MONDO:equivalentTo", source="DOID:7280"}
xref: UMLS:C0376319 {source="MONDO:equivalentTo", source="DOID:7280", source="NCIT:C4675", source="Orphanet:157826", source="ORDO:157826/e"}
is_a: MONDO:0003396 {source="DOID:7280", source="MONDOLEX:0015528"} ! epulis
is_a: MONDO:0006424 {source="Orphanet:157826"} ! soft tissue neoplasm
is_a: MONDO:0006499 {source="NCIT:C4675", source="NCIT:C4675/inferred"} ! hamartoma (disease)
is_a: MONDO:0021086 ! gingival neoplasm
is_a: MONDO:0021580 ! neoplasm of jaw
property_value: closeMatch http://identifiers.org/snomedct/25511009
property_value: exactMatch DOID:7280
property_value: exactMatch http://identifiers.org/mesh/D005887
property_value: exactMatch http://identifiers.org/snomedct/360525006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376319
property_value: exactMatch NCIT:C4675
property_value: exactMatch Orphanet:157826

[Term]
id: MONDO:0015529
name: paroxysmal Hemicrania
def: "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." [Orphanet:157835]
subset: gard_rare {source="GARD:0010794"}
subset: ordo_disease {source="Orphanet:157835"}
xref: EFO:1001822 {source="MONDO:equivalentTo"}
xref: GARD:0010794 {source="MONDO:equivalentTo"}
xref: ICD10:G44.0 {source="ORDO:157835/ntbt", source="Orphanet:157835"}
xref: ICD9:339.03 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10019461 {source="Orphanet:157835", source="ORDO:157835/e"}
xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="ORDO:157835/e", source="MONDO:ontobio"}
xref: Orphanet:157835 {source="MONDO:equivalentTo"}
xref: SCTID:443094001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1399352 {source="MONDO:equivalentTo", source="Orphanet:157835", source="ORDO:157835/e"}
is_a: MONDO:0015530 {source="MESH:D051302", source="Orphanet:157835", source="linkedlifedata"} ! trigeminal autonomic cephalalgia
property_value: exactMatch http://identifiers.org/meddra/10019461
property_value: exactMatch http://identifiers.org/mesh/D051302
property_value: exactMatch http://identifiers.org/snomedct/443094001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1399352
property_value: exactMatch Orphanet:157835
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania xsd:anyURI {source="GARD:0010794"}

[Term]
id: MONDO:0015530
name: trigeminal autonomic cephalalgia
def: "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." [NCIT:C117074]
subset: ordo_group_of_disorders {source="Orphanet:157843"}
xref: ICD10:G44.8 {source="ORDO:157843/ntbt", source="Orphanet:157843"}
xref: ICD9:339.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D051303 {source="ORDO:157843/e", source="MONDO:equivalentTo", source="Orphanet:157843", source="MONDO:ontobio"}
xref: NCIT:C117074 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:157843 {source="MONDO:equivalentTo"}
xref: SCTID:449814007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1565172 {source="ORDO:157843/e", source="MONDO:equivalentTo", source="Orphanet:157843", source="NCIT:C117074"}
is_a: MONDO:0003543 ! trigeminal nerve disease
is_a: MONDO:0017181 {source="MESH:D051303"} ! hypnic headache (disease)
is_a: MONDO:0043218 {source="NCIT:C117074"} ! neurovascular disease
property_value: exactMatch http://identifiers.org/mesh/D051303
property_value: exactMatch http://identifiers.org/snomedct/449814007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1565172
property_value: exactMatch NCIT:C117074
property_value: exactMatch Orphanet:157843

[Term]
id: MONDO:0015531
name: non-Langerhans cell histiocytosis
def: "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." [MESH:D015616]
subset: ordo_group_of_disorders {source="Orphanet:157987"}
synonym: "histiocytosis, non-Langerhans-cell" RELATED [GARD:0008231]
synonym: "non-Langerhans-cell histiocytosis" EXACT [MONDO:0002964]
xref: DOID:4330 {source="MONDO:equivalentTo"}
xref: GARD:0008231 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D76.3 {source="ORDO:157987/ntbt", source="Orphanet:157987"}
xref: ICD9:288.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D015616 {source="MONDO:equivalentTo", source="Orphanet:157987", source="ORDO:157987/e", source="DOID:4330"}
xref: Orphanet:157987 {source="MONDO:equivalentTo"}
xref: SCTID:127069007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.44/0.50", source="DOID:4330"}
xref: UMLS:C0019624 {source="MONDO:equivalentTo", source="Orphanet:157987", source="ORDO:157987/e", source="DOID:4330"}
is_a: MONDO:0002637 {source="DOID:4330", source="MESH:D015616"} ! histiocytosis
is_a: MONDO:0015938 {source="Orphanet:157987"} ! systemic disease
disjoint_from: MONDO:0018310 ! Langerhans cell histiocytosis
relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:157987"} ! systemic disease with skin involvement
property_value: exactMatch DOID:4330
property_value: exactMatch http://identifiers.org/mesh/D015616
property_value: exactMatch http://identifiers.org/snomedct/127069007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019624
property_value: exactMatch Orphanet:157987

[Term]
id: MONDO:0015532
name: generalized eruptive histiocytosis
subset: ordo_disease {source="Orphanet:157991"}
synonym: "generalized eruptive histiocytoma" EXACT [Orphanet:157991]
xref: ICD10:D76.3 {source="Orphanet:157991", source="ORDO:157991/ntbt"}
xref: Orphanet:157991 {source="MONDO:equivalentTo"}
xref: SCTID:110980006 {source="MONDO:kboom-pr-1.00/0.91/26.56", source="MONDO:equivalentTo"}
xref: UMLS:C0347404 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="Orphanet:157991"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/110980006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347404
property_value: exactMatch Orphanet:157991

[Term]
id: MONDO:0015533
name: benign cephalic histiocytosis
subset: ordo_disease {source="Orphanet:157997"}
xref: ICD10:D76.3 {source="ORDO:157997/ntbt", source="Orphanet:157997"}
xref: ICD9:216.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:157997 {source="MONDO:equivalentTo"}
xref: SCTID:255192005 {source="MONDO:kboom-pr-1.00/0.84/14.40", source="MONDO:equivalentTo"}
xref: UMLS:C0347403 {source="ORDO:157997/e", source="MONDO:equivalentTo", source="Orphanet:157997"}
is_a: MONDO:0015531 {source="Orphanet:157997"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/255192005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347403
property_value: exactMatch Orphanet:157997

[Term]
id: MONDO:0015534
name: juvenile xanthogranuloma
def: "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." [NCIT:C3451]
subset: ordo_disease {source="Orphanet:158000"}
synonym: "juvenile xanthogranuloma" EXACT [MONDO:0006259]
synonym: "JXG" EXACT [NCIT:C3451]
synonym: "multiple eruptive juvenile xanthogranuloma" EXACT [DOID:4424]
synonym: "Naevoxanthoendothelioma" EXACT [DOID:4424]
synonym: "xanthoma neviforme" EXACT [DOID:4424]
xref: DOID:4424 {source="MONDO:equivalentTo"}
xref: EFO:1000311 {source="MONDO:equivalentTo"}
xref: ICD10:D76.3 {source="ORDO:158000/ntbt", source="Orphanet:158000"}
xref: MESH:D014972 {source="DOID:4424", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"}
xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:158000 {source="MONDO:equivalentTo"}
xref: SCTID:400204000 {source="DOID:4424", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.64"}
xref: UMLS:C0043324 {source="DOID:4424", source="NCIT:C3451", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"}
is_a: MONDO:0015531 {source="DOID:4424", source="MESH:D014972", source="Orphanet:158000"} ! non-Langerhans cell histiocytosis
property_value: closeMatch http://identifiers.org/snomedct/189098009
property_value: closeMatch http://identifiers.org/snomedct/400031009
property_value: closeMatch http://identifiers.org/snomedct/71709009
property_value: exactMatch DOID:4424
property_value: exactMatch http://identifiers.org/mesh/D014972
property_value: exactMatch http://identifiers.org/snomedct/400204000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043324
property_value: exactMatch NCIT:C3451
property_value: exactMatch Orphanet:158000

[Term]
id: MONDO:0015535
name: xanthoma disseminatum
subset: gard_rare {source="GARD:0013186"}
subset: ordo_disease {source="Orphanet:158003"}
synonym: "Montgomery syndrome" EXACT [Orphanet:158003]
xref: GARD:0013186 {source="MONDO:equivalentTo"}
xref: ICD10:D76.3 {source="Orphanet:158003", source="ORDO:158003/ntbt"}
xref: MedDRA:10052575 {source="Orphanet:158003", source="ORDO:158003/e"}
xref: Orphanet:158003 {source="MONDO:equivalentTo"}
xref: SCTID:399970005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.90"}
xref: UMLS:C0043322 {source="Orphanet:158003", source="ORDO:158003/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="Orphanet:158003"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/meddra/10052575
property_value: exactMatch http://identifiers.org/snomedct/399970005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043322
property_value: exactMatch Orphanet:158003
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum xsd:anyURI {source="GARD:0013186"}

[Term]
id: MONDO:0015536
name: papular xanthoma
def: "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." [Orphanet:158008]
subset: ordo_disease {source="Orphanet:158008"}
xref: ICD10:D76.3 {source="ORDO:158008/ntbt", source="Orphanet:158008"}
xref: Orphanet:158008 {source="MONDO:equivalentTo"}
xref: SCTID:765221009 {source="MONDO:equivalentTo"}
xref: UMLS:CN199692 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="Orphanet:158008"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/765221009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199692
property_value: exactMatch Orphanet:158008

[Term]
id: MONDO:0015537
name: necrobiotic xanthogranuloma
def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." [MESH:D058252]
subset: gard_rare {source="GARD:0010951"}
subset: ordo_disease {source="Orphanet:158011"}
synonym: "NXG" RELATED [GARD:0010951]
xref: EFO:1001376 {source="MONDO:equivalentTo"}
xref: GARD:0010951 {source="MONDO:equivalentTo"}
xref: ICD10:D76.3 {source="ORDO:158011/ntbt", source="Orphanet:158011"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058252 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:158011/e", source="Orphanet:158011"}
xref: Orphanet:158011 {source="MONDO:equivalentTo"}
xref: SCTID:404164003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1275339 {source="MONDO:equivalentTo", source="ORDO:158011/e", source="Orphanet:158011"}
is_a: MONDO:0015531 {source="Orphanet:158011"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/mesh/D058252
property_value: exactMatch http://identifiers.org/snomedct/404164003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275339
property_value: exactMatch Orphanet:158011
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma xsd:anyURI {source="GARD:0010951"}

[Term]
id: MONDO:0015538
name: indeterminate dendritic cell tumor
def: "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." [NCIT:C81767]
subset: ordo_disease {source="Orphanet:158019"}
synonym: "IDCT" RELATED [ONCOTREE:IDCT]
synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767]
synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767]
synonym: "indeterminate dendritic cell tumor" EXACT [Orphanet:158019]
xref: ICD10:D76.3 {source="ORDO:158019/ntbt", source="Orphanet:158019"}
xref: NCIT:C81767 {source="MONDO:equivalentTo"}
xref: ONCOTREE:IDCT {source="MONDO:equivalentTo"}
xref: Orphanet:158019 {source="MONDO:equivalentTo"}
xref: SCTID:721313009 {source="MONDO:equivalentTo"}
xref: UMLS:C2825741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006247 {source="NCIT:C81767"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0015531 {source="Orphanet:158019"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/721313009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2825741
property_value: exactMatch NCIT:C81767
property_value: exactMatch Orphanet:158019

[Term]
id: MONDO:0015539
name: progressive nodular histiocytosis
def: "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." [Orphanet:158022]
subset: ordo_disease {source="Orphanet:158022"}
xref: ICD10:D76.3 {source="ORDO:158022/ntbt", source="Orphanet:158022"}
xref: Orphanet:158022 {source="MONDO:equivalentTo"}
xref: SCTID:765141005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="Orphanet:158022"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/765141005
property_value: exactMatch Orphanet:158022

[Term]
id: MONDO:0015540
name: hemophagocytic syndrome
def: "Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes)." [Orphanet:158032]
comment: Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:158032"}
synonym: "familial erythrophagocytic lymphohistiocytosis" RELATED [GARD:0006589]
synonym: "familial hemophagocytic lymphohistiocytosis" RELATED [GARD:0006589]
synonym: "familial histiocytic reticulosis" RELATED [GARD:0006589]
synonym: "FHL" RELATED [GARD:0006589]
synonym: "haemophagocytic syndrome" RELATED [DOID:0050120]
synonym: "hemophagocytic disorder" RELATED [NCIT:C34792]
synonym: "hemophagocytic lymphohistiocytosis" EXACT [MONDO:0000247, NCIT:C34792, Orphanet:158032]
synonym: "hemophagocytic syndrome" EXACT [MONDO:0021051, NCIT:C35439]
synonym: "HLH" EXACT [GARD:0006589, Orphanet:158032]
synonym: "HPS" EXACT EXCLUDE [DOID:0050120]
xref: COHD:439789 {source="MONDO:equivalentTo"}
xref: DOID:0050120 {source="MONDO:equivalentTo"}
xref: GARD:0006589 {source="MONDO:equivalentTo"}
xref: ICD10:D76.1 {source="DOID:0050120"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058125 {source="Orphanet:158032", source="ORDO:158032/e"}
xref: NCIT:C34792 {source="MONDO:kboom-pr-0.97/0.71/3.15", source="MONDO:equivalentTo", source="DOID:0050120"}
xref: NCIT:C35439 {source="MONDO:equivalentTo"}
xref: Orphanet:158032 {source="MONDO:equivalentTo"}
xref: SCTID:234437005 {source="MONDO:kboom-pr-0.90/0.75/0.50", source="MONDO:equivalentTo", source="DOID:0050120"}
xref: UMLS:C0024291 {source="NCIT:C34792", source="MONDO:equivalentTo", source="Orphanet:158032", source="ORDO:158032/e", source="DOID:0050120"}
xref: UMLS:C3887558 {source="MONDO:equivalentTo", source="Orphanet:158032", source="NCIT:C35439"}
is_a: MONDO:0002254 {source="MONDOLEX:0015540", source="NCIT:C34792/inferred", source="NCIT:C35439"} ! syndromic disease
is_a: MONDO:0005833 {source="DOID:0050120"} ! lymphatic system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D051359
property_value: closeMatch http://identifiers.org/snomedct/190958003
property_value: exactMatch DOID:0050120
property_value: exactMatch http://identifiers.org/meddra/10058125
property_value: exactMatch http://identifiers.org/snomedct/234437005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887558
property_value: exactMatch NCIT:C34792
property_value: exactMatch NCIT:C35439
property_value: exactMatch Orphanet:158032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis xsd:anyURI {source="GARD:0006589"}

[Term]
id: MONDO:0015541
name: genetic hemophagocytic lymphohistiocytosis
def: "Genetic hemophagocytic lymphohistiocytosis." []
subset: ordo_group_of_disorders {source="Orphanet:158038"}
synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [MONDO:cjm]
synonym: "genetic hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038]
synonym: "genetic hemophagocytic syndrome" EXACT [MONDO:patterns/genetic]
synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038]
xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10070904 {source="Orphanet:158038", source="ORDO:158038/e"}
xref: OMIMPS:267700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:158038 {source="MONDO:equivalentTo"}
xref: SCTID:398250003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.60/0.50"}
is_a: MONDO:0015540 {source="MONDO:Redundant", source="MONDOLEX:0015541", source="Orphanet:158038"} ! hemophagocytic syndrome
is_a: MONDO:0015710 {source="Orphanet:158038"} ! immune dysregulation disease with immunodeficiency
intersection_of: MONDO:0015540 ! hemophagocytic syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/meddra/10070904
property_value: exactMatch http://identifiers.org/snomedct/398250003
property_value: exactMatch Orphanet:158038

[Term]
id: MONDO:0015542
name: secondary hemophagocytic lymphohistiocytosis
def: "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." [NCIT:C121184]
subset: ordo_group_of_disorders {source="Orphanet:158041"}
synonym: "acquired hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158041]
synonym: "acquired hemophagocytic syndrome" EXACT [MONDO:patterns/acquired]
synonym: "reactive hemophagocytic syndrome" EXACT [Orphanet:158041]
xref: NCIT:C121184 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:158041 {source="MONDO:equivalentTo"}
xref: UMLS:C0019068 {source="MONDO:equivalentTo", source="Orphanet:158041", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4054044 {source="NCIT:C121184", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199700 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015540 {source="MONDO:Redundant", source="MONDOLEX:0015542", source="NCIT:C121184", source="NCIT:C121184/inferred", source="OWLReasoner:2017", source="Orphanet:158041"} ! hemophagocytic syndrome
intersection_of: MONDO:0015540 ! hemophagocytic syndrome
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199700
property_value: exactMatch NCIT:C121184
property_value: exactMatch Orphanet:158041

[Term]
id: MONDO:0015543
name: hemophagocytic syndrome associated with an infection
subset: ordo_clinical_situation {source="Orphanet:158048"}
synonym: "IAHS" EXACT [Orphanet:158048]
synonym: "VAHS" EXACT [Orphanet:158048]
synonym: "Virus-associated hemophagocytic syndrome" EXACT [Orphanet:158048]
synonym: "Virus-associated hemophagocytis syndrome" EXACT [Orphanet:158048]
xref: Orphanet:158048 {source="MONDO:equivalentTo"}
xref: UMLS:CN199701 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015542 {source="Orphanet:158048"} ! secondary hemophagocytic lymphohistiocytosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199701
property_value: exactMatch Orphanet:158048

[Term]
id: MONDO:0015544
name: acquired hemophagocytic lymphohistiocytosis associated with malignant disease
subset: ordo_clinical_situation {source="Orphanet:158057"}
xref: Orphanet:158057 {source="MONDO:equivalentTo"}
xref: UMLS:CN199702 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015542 {source="MONDOLEX:0015544", source="Orphanet:158057"} ! secondary hemophagocytic lymphohistiocytosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199702
property_value: exactMatch Orphanet:158057

[Term]
id: MONDO:0015545
name: macrophage activation syndrome
def: "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." [NCIT:P378]
subset: gard_rare {source="GARD:0012124"}
subset: ordo_clinical_syndrome {source="Orphanet:158061"}
synonym: "MAS" EXACT [NCIT:C114471]
synonym: "reactive hemophagocytic lymphohistiocytosis" EXACT [NCIT:C114471]
xref: EFO:1001806 {source="MONDO:equivalentTo"}
xref: GARD:0012124 {source="MONDO:equivalentTo"}
xref: MedDRA:10053867 {source="Orphanet:158061", source="ORDO:158061/e"}
xref: MESH:D055501 {source="MONDO:equivalentTo", source="Orphanet:158061", source="ORDO:158061/e", source="MONDO:ontobio"}
xref: NCIT:C114471 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.86/0.82"}
xref: Orphanet:158061 {source="MONDO:equivalentTo"}
xref: SCTID:430478003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1096155 {source="NCIT:C114471", source="MONDO:equivalentTo", source="Orphanet:158061", source="ORDO:158061/e"}
is_a: MONDO:0015542 {source="Orphanet:158061"} ! secondary hemophagocytic lymphohistiocytosis
is_a: MONDO:0015938 {source="Orphanet:158061"} ! systemic disease
property_value: exactMatch http://identifiers.org/meddra/10053867
property_value: exactMatch http://identifiers.org/mesh/D055501
property_value: exactMatch http://identifiers.org/snomedct/430478003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096155
property_value: exactMatch NCIT:C114471
property_value: exactMatch Orphanet:158061
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome xsd:anyURI {source="GARD:0012124"}

[Term]
id: MONDO:0015546
name: non-distal monosomy 10q
def: "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." [Orphanet:1581]
subset: ordo_malformation_syndrome {source="Orphanet:1581"}
synonym: "non-distal deletion 10q" EXACT [Orphanet:1581]
synonym: "non-distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:1581]
synonym: "non-telomeric monosomy 10q" EXACT [Orphanet:1581]
xref: ICD10:Q93.5 {source="ORDO:1581/attributed", source="ORDO:1581/ntbt", source="Orphanet:1581"}
xref: Orphanet:1581 {source="MONDO:equivalentTo"}
is_a: MONDO:0016909 {source="Orphanet:1581"} ! partial monosomy of the long arm of chromosome 10
property_value: exactMatch Orphanet:1581

[Term]
id: MONDO:0015547
name: genetic dementia
def: "Genetic dementia." []
subset: ordo_group_of_disorders {source="Orphanet:158124"}
synonym: "genetic dementia" EXACT [MONDO:patterns/genetic]
xref: Orphanet:158124 {source="MONDO:equivalentTo"}
is_a: MONDO:0001627 ! dementia (disease)
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:158124"} ! genetic nervous system disorder
intersection_of: MONDO:0001627 ! dementia (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:158124

[Term]
id: MONDO:0015548
name: Huntington disease-like syndrome
subset: ordo_group_of_disorders {source="Orphanet:158266"}
synonym: "Huntington disease phenocopy syndrome" EXACT [Orphanet:158266]
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580174 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:158266 {source="MONDO:equivalentTo"}
xref: SCTID:702376003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.64"}
xref: UMLS:C3711380 {source="Orphanet:158266", source="MONDO:equivalentTo"}
is_a: MONDO:0000167 ! Huntington disease and related disorders
is_a: MONDO:0015547 ! genetic dementia
property_value: exactMatch http://identifiers.org/mesh/C580174
property_value: exactMatch http://identifiers.org/snomedct/702376003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711380
property_value: exactMatch Orphanet:158266

[Term]
id: MONDO:0015549
name: obsolete rare genetic hematologic disease
comment: Reason for obsoletion: we want to remove rare X terms from Mondo.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:158300"}
xref: Orphanet:158300 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199710 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199710
property_value: exactMatch Orphanet:158300
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1748 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005570

[Term]
id: MONDO:0015550
name: suprabasal epidermolysis bullosa simplex
def: "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." [https://www.ncbi.nlm.nih.gov/books/NBK1369/, MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:158661"}
synonym: "epidermis suprabasal layer epidermolysis bullosa simplex" EXACT [MONDO:patterns/location]
synonym: "epidermolysis bullosa simplex of epidermis suprabasal layer" EXACT [MONDO:design_pattern]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:158661/attributed", source="ORDO:158661/ntbt", source="Orphanet:158661"}
xref: Orphanet:158661 {source="MONDO:equivalentTo"}
xref: SCTID:724840004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017610 {source="MONDO:Redundant", source="Orphanet:158661"} ! epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/snomedct/724840004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511300
property_value: exactMatch Orphanet:158661

[Term]
id: MONDO:0015551
name: basal epidermolysis bullosa simplex
def: "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." [https://www.ncbi.nlm.nih.gov/books/NBK1369/, MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:158665"}
synonym: "epidermolysis bullosa simplex of stratum basale of epidermis" EXACT [MONDO:design_pattern]
synonym: "stratum basale of epidermis epidermolysis bullosa simplex" EXACT [MONDO:patterns/location]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158665", source="ORDO:158665/attributed", source="ORDO:158665/ntbt"}
xref: Orphanet:158665 {source="MONDO:equivalentTo"}
xref: SCTID:723163000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4302031 {source="MONDO:equivalentTo"}
is_a: MONDO:0017610 {source="MONDO:Redundant", source="Orphanet:158665", source="linkedlifedata"} ! epidermolysis bullosa simplex
property_value: exactMatch http://identifiers.org/snomedct/723163000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302031
property_value: exactMatch Orphanet:158665

[Term]
id: MONDO:0015552
name: acral dystrophic epidermolysis bullosa
def: "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." [Orphanet:158673]
subset: ordo_disease {source="Orphanet:158673"}
synonym: "DEB, acral" EXACT [Orphanet:158673]
synonym: "DEB-ac" EXACT [Orphanet:158673]
xref: ICD10:Q81.2 {source="Orphanet:158673", source="ORDO:158673/attributed", source="ORDO:158673/ntbt"}
xref: Orphanet:158673 {source="MONDO:equivalentTo"}
xref: SCTID:733638006 {source="MONDO:equivalentTo"}
xref: UMLS:C4518087 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN199731 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017608 {source="Orphanet:158673"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://identifiers.org/snomedct/733638006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199731
property_value: exactMatch Orphanet:158673

[Term]
id: MONDO:0015553
name: dystrophic epidermolysis bullosa, nails only
def: "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." [Orphanet:158676]
subset: ordo_disease {source="Orphanet:158676"}
synonym: "DEB-na" EXACT [Orphanet:158676]
synonym: "dominant dystrophic epidermolysis bullosa, nails only" RELATED [Orphanet:158676]
synonym: "nails-only DDEB" EXACT [Orphanet:158676]
synonym: "nails-only DEB" EXACT [Orphanet:158676]
xref: ICD10:Q81.2 {source="Orphanet:158676", source="ORDO:158676/attributed", source="ORDO:158676/ntbt"}
xref: Orphanet:158676 {source="MONDO:equivalentTo"}
xref: SCTID:722436002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:CN199732 {source="MONDO:equivalentTo"}
is_a: MONDO:0017608 {source="Orphanet:158676"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://identifiers.org/snomedct/722436002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199732
property_value: exactMatch Orphanet:158676

[Term]
id: MONDO:0015554
name: typical urticaria pigmentosa
subset: ordo_clinical_subtype {source="Orphanet:158766"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158766", source="ORDO:158766/ntbt"}
xref: Orphanet:158766 {source="MONDO:equivalentTo"}
is_a: MONDO:0019316 {source="MONDOLEX:0015554", source="Orphanet:158766"} ! maculopapular cutaneous mastocytosis
property_value: exactMatch Orphanet:158766

[Term]
id: MONDO:0015555
name: plaque-form urticaria pigmentosa
subset: ordo_clinical_subtype {source="Orphanet:158769"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:158769/ntbt", source="Orphanet:158769"}
xref: Orphanet:158769 {source="MONDO:equivalentTo"}
is_a: MONDO:0019316 {source="MONDOLEX:0015555", source="Orphanet:158769"} ! maculopapular cutaneous mastocytosis
property_value: exactMatch Orphanet:158769

[Term]
id: MONDO:0015556
name: nodular urticaria pigmentosa
subset: ordo_clinical_subtype {source="Orphanet:158772"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158772", source="ORDO:158772/ntbt"}
xref: Orphanet:158772 {source="MONDO:equivalentTo"}
is_a: MONDO:0019316 {source="MONDOLEX:0015556", source="Orphanet:158772"} ! maculopapular cutaneous mastocytosis
property_value: exactMatch Orphanet:158772

[Term]
id: MONDO:0015557
name: Smouldering systemic mastocytosis
def: "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM; see this term). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." [Orphanet:158775]
subset: ordo_clinical_subtype {source="Orphanet:158775"}
xref: ICD10:C96.2 {source="Orphanet:158775", source="ORDO:158775/ntbt"}
xref: Orphanet:158775 {source="MONDO:equivalentTo"}
is_a: MONDO:0020331 {source="Orphanet:158775"} ! indolent systemic mastocytosis
property_value: exactMatch Orphanet:158775

[Term]
id: MONDO:0015558
name: isolated bone marrow mastocytosis
subset: ordo_clinical_subtype {source="Orphanet:158778"}
xref: ICD10:C96.2 {source="ORDO:158778/ntbt", source="Orphanet:158778"}
xref: Orphanet:158778 {source="MONDO:equivalentTo"}
is_a: MONDO:0020331 {source="Orphanet:158778"} ! indolent systemic mastocytosis
property_value: exactMatch Orphanet:158778

[Term]
id: MONDO:0015559
name: lymphoadenopathic mastocytosis with eosinophilia
subset: ordo_clinical_subtype {source="Orphanet:158793"}
xref: ICD10:C96.2 {source="ORDO:158793/ntbt", source="Orphanet:158793"}
xref: Orphanet:158793 {source="MONDO:equivalentTo"}
is_a: MONDO:0020333 {source="Orphanet:158793"} ! aggressive systemic mastocytosis
property_value: exactMatch Orphanet:158793

[Term]
id: MONDO:0015560
name: classic mast cell leukemia
def: "20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported." [Orphanet:158796]
subset: ordo_disease {source="Orphanet:158796"}
xref: ICD10:C94.3 {source="Orphanet:158796", source="ORDO:158796/ntbt"}
xref: Orphanet:158796 {source="MONDO:equivalentTo"}
is_a: MONDO:0020334 {source="MONDOLEX:0015560", source="Orphanet:158796"} ! mast cell leukemia
property_value: exactMatch Orphanet:158796

[Term]
id: MONDO:0015561
name: aleukemic mast cell leukemia
def: "10%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported." [Orphanet:158799]
subset: ordo_disease {source="Orphanet:158799"}
xref: ICD10:C94.3 {source="Orphanet:158799", source="ORDO:158799/ntbt"}
xref: Orphanet:158799 {source="MONDO:equivalentTo"}
is_a: MONDO:0020334 {source="MONDOLEX:0015561", source="Orphanet:158799"} ! mast cell leukemia
property_value: exactMatch Orphanet:158799

[Term]
id: MONDO:0015562
name: distal monosomy 17q
def: "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." [Orphanet:1597]
subset: ordo_malformation_syndrome {source="Orphanet:1597"}
synonym: "17q deletion" RELATED [GARD:0010972]
synonym: "17q monosomy" RELATED [GARD:0010972]
synonym: "chromosome 17q deletion" RELATED [GARD:0010972]
synonym: "deletion 17q" RELATED [GARD:0010972]
synonym: "distal 17q deletion" EXACT [Orphanet:1597]
synonym: "distal monosomy type 17q" EXACT [MONDORULE:4, Orphanet:1597]
synonym: "monosomy 17q" RELATED [GARD:0010972]
synonym: "monosomy 17qter" EXACT [Orphanet:1597]
synonym: "partial monosomy 17q" RELATED [GARD:0010972]
synonym: "telomeric deletion 17q" EXACT [Orphanet:1597]
xref: GARD:0010972 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="Orphanet:1597", source="ORDO:1597/attributed", source="ORDO:1597/ntbt"}
xref: Orphanet:1597 {source="MONDO:equivalentTo"}
xref: SCTID:715365000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275171 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016915 {source="Orphanet:1597"} ! partial deletion of the long arm of chromosome 17
property_value: exactMatch http://identifiers.org/snomedct/715365000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275171
property_value: exactMatch Orphanet:1597

[Term]
id: MONDO:0015563
name: obsolete blue cone monochromatism
is_obsolete: true
replaced_by: MONDO:0010563

[Term]
id: MONDO:0015564
name: Castleman disease
def: "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." [Orphanet:160]
subset: gard_rare
subset: ordo_disease {source="Orphanet:160"}
synonym: "AFLH" EXACT [NCIT:C3056]
synonym: "ALNH" RELATED [GARD:0000673]
synonym: "angiofollicular ganglionic hyperplasia" EXACT [Orphanet:160]
synonym: "angiofollicular lymph hyperplasia" EXACT [DOID:0111157, Orphanet:160]
synonym: "angiofollicular lymph node hyperplasia" EXACT [DOID:0111157]
synonym: "angiofollicular lymph node hyperplasia" RELATED [GARD:0000673]
synonym: "angiofollicular lymphoid hyperplasia" EXACT [NCIT:C3056]
synonym: "Castleman disease" EXACT [NCIT:C3056]
synonym: "Castleman's disease" EXACT [NCIT:C3056]
synonym: "Castleman's tumor" EXACT [NCIT:C3056]
synonym: "giant lymph node hyperplasia" EXACT [DOID:0111157, NCIT:C3056]
synonym: "GLNH" EXACT [NCIT:C3056]
synonym: "lymphoid hamartoma" EXACT [DOID:0111157]
xref: DOID:0111157 {source="MONDO:equivalentTo"}
xref: EFO:1001332 {source="MONDO:equivalentTo"}
xref: GARD:0000673 {source="MONDO:equivalentTo"}
xref: GARD:0012656 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D47.4 {source="ORDO:160/ntbt", source="Orphanet:160"}
xref: ICD10:D47.Z2 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: MedDRA:10050251 {source="ORDO:160/e", source="Orphanet:160"}
xref: NCIT:C3056 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: Orphanet:160 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: SCTID:207036003 {source="MONDO:kboom-pr-1.00/0.75/6.62", source="MONDO:equivalentTo", source="DOID:0111157"}
xref: UMLS:C0017531 {source="GARD:0000673", source="ORDO:160/e", source="MONDO:equivalentTo", source="Orphanet:160", source="NCIT:C3056", source="DOID:0111157"}
xref: UMLS:C2931179 {source="MEDGEN:kboom-pr98-c99", source="ORDO:160/e", source="MONDO:equivalentTo", source="Orphanet:160", source="DOID:0111157"}
xref: UMLS:CN199886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015157 {source="Orphanet:160"} ! human herpesvirus 8-related tumor
is_a: MONDO:0015757 {source="Orphanet:160"} ! lymphoid hemopathy
is_a: MONDO:0016537 {source="DOID:0111157", source="NCIT:C3056/inferred"} ! lymphoproliferative syndrome
property_value: closeMatch http://identifiers.org/snomedct/238809002
property_value: closeMatch http://identifiers.org/snomedct/367497006
property_value: closeMatch http://identifiers.org/snomedct/69484003
property_value: exactMatch DOID:0111157
property_value: exactMatch http://identifiers.org/meddra/10050251
property_value: exactMatch http://identifiers.org/mesh/C536362
property_value: exactMatch http://identifiers.org/mesh/D005871
property_value: exactMatch http://identifiers.org/snomedct/207036003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017531
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199886
property_value: exactMatch NCIT:C3056
property_value: exactMatch Orphanet:160

[Term]
id: MONDO:0015565
name: cap polyposis
def: "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." [Orphanet:160148]
subset: ordo_disease {source="Orphanet:160148"}
synonym: "Cap inflammatory polyposis" EXACT [Orphanet:160148]
synonym: "eroded polypoid hyperplasia" EXACT [Orphanet:160148]
synonym: "inflammatory myoglandular polyps" EXACT [Orphanet:160148]
synonym: "polypoid prolapsing folds" EXACT [Orphanet:160148]
xref: ICD10:D12.6 {source="ORDO:160148/ntbt", source="Orphanet:160148"}
xref: Orphanet:160148 {source="MONDO:equivalentTo"}
xref: SCTID:720604008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.60"}
xref: UMLS:C4303971 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="Orphanet:160148"} ! inflammatory bowel disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015187"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/720604008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303971
property_value: exactMatch Orphanet:160148

[Term]
id: MONDO:0015566
name: 2q24 microdeletion syndrome
def: "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." [Orphanet:1617]
subset: ordo_malformation_syndrome {source="Orphanet:1617"}
synonym: "2q24 deletion" RELATED [GARD:0003746]
synonym: "chromosome 2q24 microdeletion syndrome" RELATED [GARD:0003746]
synonym: "Del(2)(q24)" EXACT [Orphanet:1617]
synonym: "deletion 2q24" RELATED [GARD:0003746]
synonym: "monosomy 2q24" EXACT [Orphanet:1617]
xref: GARD:0003746 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="Orphanet:1617", source="ORDO:1617/attributed", source="ORDO:1617/ntbt"}
xref: MESH:C538316 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1617", source="ORDO:1617/e"}
xref: Orphanet:1617 {source="MONDO:equivalentTo"}
xref: SCTID:719658006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.70"}
xref: UMLS:CN036809 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016901 {source="MONDOLEX:0015566", source="Orphanet:1617"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0020226 ! chromosomal anomaly with cataract
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1617"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/mesh/C538316
property_value: exactMatch http://identifiers.org/snomedct/719658006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036809
property_value: exactMatch Orphanet:1617

[Term]
id: MONDO:0015567
name: cataract-glaucoma syndrome
def: "Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." [Orphanet:162]
subset: ordo_malformation_syndrome {source="Orphanet:162"}
xref: ICD10:Q12.0 {source="ORDO:162/attributed", source="ORDO:162/ntbt", source="Orphanet:162"}
xref: Orphanet:162 {source="MONDO:equivalentTo"}
xref: SCTID:718851007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:CN199931 {source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic developmental defect of the eye
is_a: MONDO:0020149 {source="Orphanet:162"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0020225 {source="Orphanet:162"} ! syndromic cataract
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:162"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/snomedct/718851007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199931
property_value: exactMatch Orphanet:162

[Term]
id: MONDO:0015568
name: isolated congenital nasal pyriform aperture stenosis
subset: ordo_malformation_syndrome {source="Orphanet:162516"}
synonym: "isolated apertura pyriformis stenosis" EXACT [Orphanet:162516]
synonym: "isolated nasal pyriform aperture hypoplasia" EXACT [Orphanet:162516]
xref: ICD10:Q30.8 {source="ORDO:162516/ntbt", source="Orphanet:162516"}
xref: Orphanet:162516 {source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:162516"} ! nose and cavum anomaly
property_value: exactMatch Orphanet:162516

[Term]
id: MONDO:0015569
name: congenital nasal pyriform aperture stenosis with holoprosencephaly
subset: ordo_malformation_syndrome {source="Orphanet:162521"}
synonym: "apertura pyriformis with holoprosencephaly" EXACT [Orphanet:162521]
xref: ICD10:Q30.8 {source="ORDO:162521/ntbt", source="Orphanet:162521"}
xref: Orphanet:162521 {source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:162521"} ! nose and cavum anomaly
property_value: exactMatch Orphanet:162521

[Term]
id: MONDO:0015570
name: isolated congenital auditory ossicle malformation
def: "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." [Orphanet:162526]
subset: ordo_morphological_anomaly {source="Orphanet:162526"}
synonym: "congenital auditory ossicle malformation without external ear abnormality" EXACT [Orphanet:162526]
xref: ICD10:Q16.3 {source="ORDO:162526/e", source="Orphanet:162526"}
xref: Orphanet:162526 {source="MONDO:equivalentTo"}
is_a: MONDO:0015604 {source="Orphanet:162526"} ! middle ear anomaly
property_value: exactMatch Orphanet:162526

[Term]
id: MONDO:0015571
name: deletion 5q35
def: "(5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." [Orphanet:1627]
subset: ordo_malformation_syndrome {source="Orphanet:1627"}
synonym: "Del (5)(q35)" EXACT [Orphanet:1627]
synonym: "Del (5)(qter)" EXACT [Orphanet:1627]
synonym: "deletion type 5q35" EXACT [MONDORULE:7, Orphanet:1627]
synonym: "distal 5q deletion" EXACT [Orphanet:1627]
synonym: "monosomy 5q35" EXACT [Orphanet:1627]
synonym: "telomeric deletion 5q" EXACT [Orphanet:1627]
xref: ICD10:Q93.5 {source="ORDO:1627/attributed", source="ORDO:1627/ntbt", source="Orphanet:1627"}
xref: MESH:C537647 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1627 {source="MONDO:equivalentTo"}
xref: SCTID:721158009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016904 {source="Orphanet:1627"} ! partial deletion of the long arm of chromosome 5
property_value: exactMatch http://identifiers.org/mesh/C537647
property_value: exactMatch http://identifiers.org/snomedct/721158009
property_value: exactMatch Orphanet:1627

[Term]
id: MONDO:0015572
name: cerebral malformation due to abnormal neuronal migration
comment: Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58
subset: ordo_group_of_disorders {source="Orphanet:163209"}
synonym: "brain malformation due to abnormal neuronal migration" EXACT [Orphanet:163209]
synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [Orphanet:163209]
xref: ICD10:Q04.8 {source="ORDO:163209/attributed", source="ORDO:163209/ntbt", source="Orphanet:163209"}
xref: Orphanet:163209 {source="MONDO:equivalentTo"}
is_a: MONDO:0015655 {source="Orphanet:163209"} ! cerebral malformation with epilepsy
property_value: exactMatch Orphanet:163209

[Term]
id: MONDO:0015573
name: subacute cutaneous lupus erythematosus
def: "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE, see this term) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." [Orphanet:163525]
subset: ordo_disease {source="Orphanet:163525"}
xref: ICD10:L93.1 {source="MONDO:equivalentTo", source="ORDO:163525/e", source="Orphanet:163525"}
xref: MedDRA:10057903 {source="ORDO:163525/e", source="Orphanet:163525"}
xref: NCIT:C117111 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:163525 {source="MONDO:equivalentTo"}
xref: SCTID:239891002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024140 {source="NCIT:C117111", source="MONDO:equivalentTo", source="ORDO:163525/e", source="Orphanet:163525"}
is_a: MONDO:0005282 {source="MONDO:Redundant", source="NCIT:C117111", source="Orphanet:163525", source="indirect", source="linkedlifedata"} ! cutaneous lupus erythematosus
relationship: has_modifier MONDO:0021136 {source="MONDO:0018887"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10057903
property_value: exactMatch http://identifiers.org/snomedct/239891002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024140
property_value: exactMatch NCIT:C117111
property_value: exactMatch Orphanet:163525

[Term]
id: MONDO:0015574
name: chronic cutaneous lupus erythematosus
def: "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE; see this term) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis (see these terms)." [Orphanet:163531]
subset: ordo_group_of_disorders {source="Orphanet:163531"}
synonym: "cutaneous lupus erythematosus, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD10:L93.0 {source="ORDO:163531/ntbt", source="Orphanet:163531", source="MONDO:superClassOf"}
xref: ICD10:L93.2 {source="ORDO:163531/ntbt", source="Orphanet:163531"}
xref: MedDRA:10057929 {source="Orphanet:163531", source="ORDO:163531/e"}
xref: Orphanet:163531 {source="MONDO:equivalentTo"}
xref: UMLS:CN226705 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005282 {source="Orphanet:163531"} ! cutaneous lupus erythematosus
relationship: has_modifier MONDO:0021136 {source="MONDO:0018887"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10057929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226705
property_value: exactMatch Orphanet:163531

[Term]
id: MONDO:0015575
name: obsolete rare bacterial infectious disease
def: "Rare bacterial infectious disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:163582"}
synonym: "rare bacterial infectious disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:163582 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:163582
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005113
consider: UMLS:C0004623 {source="MONDO:subClassOf", source="Orphanet:163582"}

[Term]
id: MONDO:0015576
name: obsolete rare viral disease
def: "Rare viral disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:163585"}
synonym: "rare viral disease" EXACT [MONDO:patterns/rare]
synonym: "rare viral infectious disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:163585 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199939 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199939
property_value: exactMatch Orphanet:163585
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005108
consider: UMLS:C0042740 {source="Orphanet:163585"}
consider: UMLS:C0042769 {source="Orphanet:163585"}

[Term]
id: MONDO:0015577
name: obsolete rare parasitic disease
def: "Any of the forms of parasitic infection that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:163588"}
synonym: "rare parasitic infection" EXACT [MONDO:cjm, MONDO:patterns/rare]
synonym: "rare parasitic infectious disease" EXACT [MONDO:cjm]
xref: Orphanet:163588 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199940 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199940
property_value: exactMatch Orphanet:163588
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005135
consider: UMLS:C0030499 {source="Orphanet:163588"}
consider: UMLS:C0747256 {source="Orphanet:163588"}

[Term]
id: MONDO:0015578
name: obsolete rare mycosis
def: "Rare fungal infectious disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:163591"}
synonym: "rare fungal infectious disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:163591 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:163591
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002041
consider: UMLS:C0026946 {source="Orphanet:163591"}

[Term]
id: MONDO:0015579
name: Hb Bart's hydrops fetalis
def: "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." [Orphanet:163596]
subset: ordo_clinical_subtype {source="Orphanet:163596"}
synonym: "Alpha-thalassemia hydrops fetalis" EXACT [Orphanet:163596]
synonym: "Alpha-thalassemia major" EXACT [Orphanet:163596]
synonym: "Hemoglobin Bart's hydrops fetalis" EXACT [Orphanet:163596]
synonym: "homozygous alpha0-thalassemia" EXACT [Orphanet:163596]
xref: ICD10:D56.0 {source="MONDO:subClassOf", source="ORDO:163596/attributed", source="ORDO:163596/ntbt", source="Orphanet:163596"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:163596 {source="MONDO:equivalentTo"}
xref: SCTID:5300004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0009369 ! non-immune hydrops fetalis
is_a: MONDO:0011399 {source="MONDOLEX:0015579", source="Orphanet:163596", source="linkedlifedata"} ! alpha thalassemia
property_value: exactMatch http://identifiers.org/snomedct/5300004
property_value: exactMatch Orphanet:163596

[Term]
id: MONDO:0015580
name: distal monosomy 7q36
def: "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." [Orphanet:1636]
subset: ordo_malformation_syndrome {source="Orphanet:1636"}
synonym: "distal deletion 7q36" EXACT [Orphanet:1636]
synonym: "distal monosomy type 7q36" EXACT [MONDORULE:7, Orphanet:1636]
synonym: "monosomy 7qter" EXACT [Orphanet:1636]
synonym: "telomeric deletion 7q36" EXACT [Orphanet:1636]
xref: ICD10:Q93.5 {source="ORDO:1636/attributed", source="ORDO:1636/ntbt", source="Orphanet:1636"}
xref: Orphanet:1636 {source="MONDO:equivalentTo"}
xref: SCTID:763529005 {source="MONDO:equivalentTo"}
is_a: MONDO:0016906 {source="MONDOLEX:0015580", source="Orphanet:1636"} ! partial deletion of the long arm of chromosome 7
property_value: exactMatch http://identifiers.org/snomedct/763529005
property_value: exactMatch Orphanet:1636

[Term]
id: MONDO:0015581
name: bile acid synthesis defect with cholestasis and malabsorption
subset: ordo_group_of_disorders {source="Orphanet:163631"}
xref: ICD10:K76.8 {source="ORDO:163631/attributed", source="ORDO:163631/ntbt", source="Orphanet:163631"}
xref: Orphanet:163631 {source="MONDO:equivalentTo"}
is_a: MONDO:0017290 {source="Orphanet:163631"} ! familial intrahepatic cholestasis
is_a: MONDO:0019218 {source="Orphanet:163631"} ! inborn disorder of bile acid synthesis
property_value: exactMatch Orphanet:163631

[Term]
id: MONDO:0015582
name: obsolete rare disorder related with pregnancy, childbirth and puerperium
def: "Any of the forms of pregnancy disorder that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:163637"}
synonym: "rare pregnancy disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:163637 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226708
property_value: exactMatch Orphanet:163637
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024575

[Term]
id: MONDO:0015583
name: 2p21 microdeletion syndrome
def: "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." [Orphanet:163693]
subset: ordo_disease {source="Orphanet:163693"}
synonym: "2p21 deletion syndrome" EXACT [Orphanet:163693]
synonym: "Del(2)(p21)" EXACT [Orphanet:163693]
synonym: "monosomy 2p21" EXACT [Orphanet:163693]
xref: ICD10:Q93.5 {source="Orphanet:163693", source="ORDO:163693/attributed", source="ORDO:163693/ntbt"}
xref: Orphanet:163693 {source="MONDO:equivalentTo"}
xref: SCTID:719652007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.14"}
xref: UMLS:C4304537 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN199952 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011669 ! hypotonia-cystinuria syndrome
property_value: exactMatch http://identifiers.org/snomedct/719652007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199952
property_value: exactMatch Orphanet:163693

[Term]
id: MONDO:0015584
name: febrile infection-related epilepsy syndrome
def: "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." [Orphanet:163703]
subset: gard_rare {source="GARD:0011005"}
subset: ordo_disease {source="Orphanet:163703"}
synonym: "acute encephalitis with refractory repetitive partial seizures" EXACT [Orphanet:163703]
synonym: "acute non-herpetic encephalitis with severe refractory status epilepticus" EXACT [Orphanet:163703]
synonym: "AERRPS" EXACT [Orphanet:163703]
synonym: "DESC syndrome" EXACT [Orphanet:163703]
synonym: "devastating epileptic encephalopathy in school-aged children" EXACT [Orphanet:163703]
synonym: "fever-induced refractory epileptic encephalopathy in school-aged children" EXACT [Orphanet:163703]
synonym: "FIRES" EXACT [Orphanet:163703]
synonym: "idiopathic catastrophic epileptic encephalopathy" EXACT [Orphanet:163703]
synonym: "severe refractory status epilepticus owing to presumed encephalitis" EXACT [Orphanet:163703]
synonym: "status epilepticus owing to presumed encephalitis" RELATED [GARD:0011005]
xref: GARD:0011005 {source="MONDO:equivalentTo"}
xref: ICD10:G40.5 {source="ORDO:163703/ntbt", source="Orphanet:163703"}
xref: Orphanet:163703 {source="MONDO:equivalentTo"}
xref: SCTID:725413002 {source="MONDO:equivalentTo"}
xref: UMLS:CN199955 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018200 {source="Orphanet:163703"} ! acute encephalopathy with inflammation-mediated status epilepticus
property_value: exactMatch http://identifiers.org/snomedct/725413002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199955
property_value: exactMatch Orphanet:163703
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome xsd:anyURI {source="GARD:0011005"}

[Term]
id: MONDO:0015585
name: cryptogenic late-onset epileptic spasms
def: "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." [Orphanet:163708]
subset: ordo_disease {source="Orphanet:163708"}
synonym: "late-onset infantile spasms" EXACT [Orphanet:163708]
xref: Orphanet:163708 {source="MONDO:equivalentTo"}
is_a: MONDO:0020072 {source="Orphanet:163708"} ! childhood-onset epilepsy syndrome
property_value: exactMatch Orphanet:163708

[Term]
id: MONDO:0015586
name: benign familial mesial temporal lobe epilepsy
def: "Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." [Orphanet:163717]
subset: ordo_disease {source="Orphanet:163717"}
synonym: "benign FMTLE" EXACT [Orphanet:163717]
xref: Orphanet:163717 {source="MONDO:equivalentTo"}
xref: UMLS:CN226709 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017704 {source="Orphanet:163717"} ! familial partial epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226709
property_value: exactMatch Orphanet:163717

[Term]
id: MONDO:0015587
name: rolandic epilepsy-speech dyspraxia syndrome
def: "Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." [Orphanet:163721]
subset: ordo_disease {source="Orphanet:163721"}
xref: Orphanet:163721 {source="MONDO:equivalentTo"}
xref: UMLS:CN199957 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020072 {source="Orphanet:163721"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020119 {source="Orphanet:163721"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199957
property_value: exactMatch Orphanet:163721

[Term]
id: MONDO:0015588
name: limbic encephalitis
def: "Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures .The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies ( MRI , PET ) laboratory tests ( CSF analysis ), and tests that measure the electrical activity of the brain ( EEG ) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy." [https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis]
subset: gard_rare {source="GARD:0008742"}
subset: ordo_group_of_disorders {source="Orphanet:163892"}
xref: GARD:0008742 {source="MONDO:equivalentTo"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020363 {source="Orphanet:163892", source="ORDO:163892/e", source="MONDO:equivalentTo"}
xref: Orphanet:163892 {source="MONDO:equivalentTo"}
xref: SCTID:230192003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015657 {source="Orphanet:163892"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0019956 {source="MESH:D020363", source="Orphanet:163892", source="linkedlifedata"} ! encephalitis
property_value: exactMatch http://identifiers.org/mesh/D020363
property_value: exactMatch http://identifiers.org/snomedct/230192003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338430
property_value: exactMatch Orphanet:163892
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis xsd:anyURI {source="GARD:0008742"}

[Term]
id: MONDO:0015589
name: paraneoplastic limbic encephalitis
def: "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." [NCIT:C4350]
subset: ordo_group_of_disorders {source="Orphanet:163895"}
synonym: "limbic encephalitis" EXACT [NCIT:C4350]
synonym: "limbic encephalitis" RELATED [NCIT:C4350]
xref: ICD10:G13.1 {source="ORDO:163895/ntbt", source="Orphanet:163895"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4350 {source="MONDO:cjm note the NCIT class is implicitly paraneoplastic", source="MONDO:equivalentTo"}
xref: Orphanet:163895 {source="MONDO:equivalentTo"}
xref: SCTID:445014002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015588 {source="MONDO:Redundant", source="MONDOLEX:0015589", source="Orphanet:163895", source="linkedlifedata"} ! limbic encephalitis
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:163895"} ! paraneoplastic neurologic syndrome
intersection_of: MONDO:0015588 ! limbic encephalitis
intersection_of: MONDO:0018215 ! paraneoplastic neurologic syndrome
property_value: exactMatch http://identifiers.org/snomedct/445014002
property_value: exactMatch NCIT:C4350
property_value: exactMatch Orphanet:163895

[Term]
id: MONDO:0015590
name: classic paraneoplastic limbic encephalitis
def: "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." [Orphanet:163898]
subset: ordo_disease {source="Orphanet:163898"}
synonym: "classic paraneoplastic limbic encephalitis, with or without intracellular antigens" EXACT [Orphanet:163898]
xref: ICD10:G13.1 {source="ORDO:163898/ntbt", source="Orphanet:163898"}
xref: Orphanet:163898 {source="MONDO:equivalentTo"}
is_a: MONDO:0015589 {source="MONDOLEX:0015590", source="Orphanet:163898"} ! paraneoplastic limbic encephalitis
property_value: exactMatch Orphanet:163898

[Term]
id: MONDO:0015591
name: limbic encephalitis associated with antibodies to cell membrane antigens
subset: ordo_group_of_disorders {source="Orphanet:163903"}
xref: ICD10:G13.1 {source="Orphanet:163903", source="ORDO:163903/ntbt"}
xref: Orphanet:163903 {source="MONDO:equivalentTo"}
is_a: MONDO:0015589 {source="Orphanet:163903"} ! paraneoplastic limbic encephalitis
property_value: exactMatch Orphanet:163903

[Term]
id: MONDO:0015592
name: limbic encephalitis with LGI1 antibodies
def: "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." [Orphanet:163908]
subset: ordo_disease {source="Orphanet:163908"}
synonym: "limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" EXACT [Orphanet:163908]
xref: ICD10:G04.8 {source="Orphanet:163908", source="ORDO:163908/ntbt"}
xref: ICD10:G13.1 {source="Orphanet:163908", source="ORDO:163908/ntbt"}
xref: Orphanet:163908 {source="MONDO:equivalentTo"}
xref: SCTID:763794005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015591 {source="Orphanet:163908"} ! limbic encephalitis associated with antibodies to cell membrane antigens
is_a: MONDO:0015594 {source="Orphanet:163908"} ! non-paraneoplastic limbic encephalitis
is_a: MONDO:0020068 {source="MONDO:Entailed", source="Orphanet:163908"} ! postinfectious encephalitis
is_a: MONDO:0021670 ! post-infectious syndrome
property_value: exactMatch http://identifiers.org/snomedct/763794005
property_value: exactMatch Orphanet:163908

[Term]
id: MONDO:0015593
name: limbic encephalitis with nCMAgs antibodies
subset: ordo_disease {source="Orphanet:163914"}
synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [Orphanet:163914]
xref: ICD10:G13.1 {source="Orphanet:163914", source="ORDO:163914/ntbt"}
xref: Orphanet:163914 {source="MONDO:equivalentTo"}
is_a: MONDO:0015591 {source="Orphanet:163914"} ! limbic encephalitis associated with antibodies to cell membrane antigens
property_value: exactMatch Orphanet:163914

[Term]
id: MONDO:0015594
name: non-paraneoplastic limbic encephalitis
subset: ordo_group_of_disorders {source="Orphanet:163918"}
xref: Orphanet:163918 {source="MONDO:equivalentTo"}
is_a: MONDO:0015588 {source="MONDOLEX:0015594", source="Orphanet:163918"} ! limbic encephalitis
property_value: exactMatch Orphanet:163918

[Term]
id: MONDO:0015595
name: posttransplant acute limbic encephalitis
def: "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." [Orphanet:163921]
subset: ordo_clinical_situation {source="Orphanet:163921"}
synonym: "pale" EXACT [Orphanet:163921]
xref: ICD10:A86 {source="ORDO:163921/ntbt", source="Orphanet:163921"}
xref: Orphanet:163921 {source="MONDO:equivalentTo"}
is_a: MONDO:0015594 {source="Orphanet:163921"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch Orphanet:163921

[Term]
id: MONDO:0015596
name: non-herpetic acute limbic encephalitis
def: "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." [Orphanet:163924]
subset: ordo_disease {source="Orphanet:163924"}
xref: ICD10:G04.8 {source="ORDO:163924/ntbt", source="Orphanet:163924"}
xref: Orphanet:163924 {source="MONDO:equivalentTo"}
xref: SCTID:764998005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015594 {source="Orphanet:163924"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch http://identifiers.org/snomedct/764998005
property_value: exactMatch Orphanet:163924

[Term]
id: MONDO:0015597
name: pustulosis palmaris et plantaris
subset: ordo_disease {source="Orphanet:163927"}
synonym: "acropustulosis" EXACT [DOID:4398]
synonym: "localized pustular psoriasis" EXACT [Orphanet:163927]
synonym: "Lpp" EXACT [Orphanet:163927]
synonym: "palmoplantar pustulosis" EXACT [DOID:4398, NCIT:C34888, Orphanet:163927]
synonym: "PPP" EXACT ABBREVIATION [Orphanet:163927]
synonym: "pustular psoriasis of the palms and/or soles" EXACT [DOID:4398]
synonym: "pustulosis of palm and sole" EXACT [MONDO:0002985]
xref: DOID:4398 {source="MONDO:equivalentTo"}
xref: GARD:0012820 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L40.3 {source="DOID:4398", source="ORDO:163927/e", source="Orphanet:163927", source="ORDO:163927/specific", source="MONDO:equivalentTo"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050185 {source="ORDO:163927/e", source="Orphanet:163927"}
xref: NCIT:C34888 {source="DOID:4398", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.20"}
xref: Orphanet:163927 {source="MONDO:equivalentTo"}
xref: SCTID:27520001 {source="DOID:4398", source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-0.92/0.83/0.24"}
xref: SCTID:81271001 {source="MONDO:kboom-pr-0.88/0.74/0.24", source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="DOID:4398", source="NCIT:C34888"} ! dermatitis
is_a: MONDO:0019274 {source="Orphanet:163927"} ! other epidermal disorder
is_a: MONDO:0019299 {source="Orphanet:163927"} ! unclassified genetic skin disorder
property_value: closeMatch http://identifiers.org/snomedct/238610005
property_value: exactMatch DOID:4398
property_value: exactMatch http://identifiers.org/meddra/10050185
property_value: exactMatch http://identifiers.org/snomedct/27520001
property_value: exactMatch http://identifiers.org/snomedct/81271001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030246
property_value: exactMatch NCIT:C34888
property_value: exactMatch Orphanet:163927

[Term]
id: MONDO:0015598
name: acrodermatitis continua suppurativa of Hallopeau
subset: ordo_disease {source="Orphanet:163931"}
xref: ICD10:L40.2 {source="ORDO:163931/ntbt", source="ORDO:163931/index", source="Orphanet:163931"}
xref: Orphanet:163931 {source="MONDO:equivalentTo"}
xref: UMLS:CN199965 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:163931"} ! other epidermal disorder
is_a: MONDO:0019299 {source="Orphanet:163931"} ! unclassified genetic skin disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199965
property_value: exactMatch Orphanet:163931

[Term]
id: MONDO:0015599
name: atopic keratoconjunctivitis
def: "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." [Orphanet:163934]
subset: ordo_disease {source="Orphanet:163934"}
xref: ICD10:H16.2 {source="MONDO:relatedTo", source="ORDO:163934/ntbt", source="Orphanet:163934"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069664 {source="ORDO:163934/e", source="Orphanet:163934"}
xref: Orphanet:163934 {source="MONDO:equivalentTo"}
xref: SCTID:403434009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1274788 {source="MONDO:equivalentTo", source="ORDO:163934/e", source="Orphanet:163934"}
is_a: MONDO:0015937 {source="Orphanet:163934"} ! rare inflammatory eye disease
property_value: exactMatch http://identifiers.org/meddra/10069664
property_value: exactMatch http://identifiers.org/snomedct/403434009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274788
property_value: exactMatch Orphanet:163934

[Term]
id: MONDO:0015600
name: X-linked intellectual disability, Cilliers type
def: "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." [Orphanet:163971]
subset: ordo_disease {source="Orphanet:163971"}
synonym: "X-linked intellectual disability-microcephaly-testicular failure syndrome" EXACT [Orphanet:163971]
xref: ICD10:Q87.8 {source="ORDO:163971/attributed", source="ORDO:163971/ntbt", source="Orphanet:163971"}
xref: Orphanet:163971 {source="MONDO:equivalentTo"}
xref: SCTID:719013004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:CN226710 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:163971"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/719013004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226710
property_value: exactMatch Orphanet:163971

[Term]
id: MONDO:0015601
name: X-linked intellectual disability, van Esch type
def: "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." [Orphanet:163976]
subset: ordo_malformation_syndrome {source="Orphanet:163976"}
synonym: "Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type" RELATED [OMIM:301030]
synonym: "VAN ESCH-O'DRISCOLL SYNDROME; VEODS" RELATED [OMIM:301030]
xref: ICD10:Q87.8 {source="ORDO:163976/attributed", source="ORDO:163976/ntbt", source="Orphanet:163976"}
xref: OMIM:301030 {source="MONDO:equivalentTo"}
xref: Orphanet:163976 {source="OMIM:301030", source="MONDO:equivalentTo"}
xref: SCTID:718914002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:CN226711 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="OMIM:301030", source="Orphanet:163976"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193012
property_value: exactMatch http://identifiers.org/omim/301030
property_value: exactMatch http://identifiers.org/snomedct/718914002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226711
property_value: exactMatch Orphanet:163976

[Term]
id: MONDO:0015602
name: developmental delay-deafness syndrome, Hildebrand type
subset: ordo_malformation_syndrome {source="Orphanet:163988"}
xref: Orphanet:163988 {source="MONDO:equivalentTo"}
xref: UMLS:CN199975 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:163988"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="Orphanet:163988"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020768 ! X-linked deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199975
property_value: exactMatch Orphanet:163988

[Term]
id: MONDO:0015603
name: rare odontal or periodontal disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:164001"}
xref: Orphanet:164001 {source="MONDO:equivalentTo"}
xref: UMLS:CN226712 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020013 {source="Orphanet:164001"} ! rare odontologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226712
property_value: exactMatch Orphanet:164001
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015604
name: middle ear anomaly
subset: ordo_group_of_disorders {source="Orphanet:164004"}
xref: ICD10:Q16.3 {source="ORDO:164004/btnt", source="Orphanet:164004"}
xref: ICD10:Q16.4 {source="ORDO:164004/btnt", source="Orphanet:164004"}
xref: MedDRA:10060957 {source="Orphanet:164004", source="ORDO:164004/e"}
xref: Orphanet:164004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019936 {source="Orphanet:164004"} ! rare otorhinolaryngological malformation
property_value: exactMatch http://identifiers.org/meddra/10060957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266599
property_value: exactMatch Orphanet:164004

[Term]
id: MONDO:0015605
name: distal monosomy 9p
def: "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." [Orphanet:1642]
subset: ordo_malformation_syndrome {source="Orphanet:1642"}
synonym: "distal deletion 9p" EXACT [Orphanet:1642]
synonym: "distal monosomy type 9p" EXACT [MONDORULE:4, Orphanet:1642]
synonym: "monosomy 9pter" EXACT [Orphanet:1642]
synonym: "telomeric deletion 9p" EXACT [Orphanet:1642]
xref: ICD10:Q93.5 {source="Orphanet:1642", source="ORDO:1642/attributed", source="ORDO:1642/ntbt"}
xref: MESH:C538025 {source="MONDO:equivalentTo"}
xref: Orphanet:1642 {source="MONDO:equivalentTo"}
xref: SCTID:763530000 {source="MONDO:equivalentTo"}
is_a: MONDO:0016891 {source="Orphanet:1642"} ! partial deletion of the short arm of chromosome 9
is_a: MONDO:0017978 {source="Orphanet:1642"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:1642"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C538025
property_value: exactMatch http://identifiers.org/snomedct/763530000
property_value: exactMatch Orphanet:1642

[Term]
id: MONDO:0015606
name: Xp22.3 microdeletion syndrome
def: "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." [Orphanet:1643]
subset: gard_rare {source="GARD:0013170"}
subset: ordo_malformation_syndrome {source="Orphanet:1643"}
synonym: "Del(X)(p23)" EXACT [Orphanet:1643]
xref: GARD:0013170 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="ORDO:1643/attributed", source="ORDO:1643/ntbt", source="Orphanet:1643"}
xref: Orphanet:1643 {source="MONDO:equivalentTo"}
xref: SCTID:726733007 {source="MONDO:equivalentTo"}
xref: UMLS:CN199978 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017004 {source="Orphanet:1643"} ! partial monosomy of the short arm of chromosome X
property_value: exactMatch http://identifiers.org/snomedct/726733007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199978
property_value: exactMatch Orphanet:1643
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome xsd:anyURI {source="GARD:0013170"}

[Term]
id: MONDO:0015607
name: partial chromosome Y deletion
def: "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." [Orphanet:1646]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1646"}
synonym: "Male sterility due to chromosome Y deletion" EXACT [Orphanet:1646]
synonym: "partial deletion of chromosome Y" RELATED [GARD:0004230]
synonym: "partial deletion of the long arm of the Y chromosome" RELATED [GARD:0004230]
synonym: "partial deletion of Y" RELATED [GARD:0004230]
synonym: "partial deletion of Y chromosome short arm" RELATED [GARD:0004230]
synonym: "Y-chromosome microdeletions" RELATED [GARD:0004230]
xref: GARD:0004230 {source="MONDO:equivalentTo"}
xref: HGNC:11311 {source="GARD:0004230"}
xref: ICD10:Q98.6 {source="ORDO:1646/attributed", source="ORDO:1646/ntbt", source="Orphanet:1646"}
xref: MESH:C536297 {source="MONDO:equivalentTo", source="Orphanet:1646", source="ORDO:1646/e", source="MONDO:ontobio"}
xref: Orphanet:1646 {source="MONDO:equivalentTo"}
xref: SCTID:717158001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018391 {source="Orphanet:1646"} ! male infertility with spermatogenesis disorder
is_a: MONDO:0020061 {source="Orphanet:1646"} ! chromosome Y structural anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931163
property_value: exactMatch http://identifiers.org/mesh/C536297
property_value: exactMatch http://identifiers.org/snomedct/717158001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1507149
property_value: exactMatch Orphanet:1646

[Term]
id: MONDO:0015608
name: acute myeloid leukemia and myelodysplastic syndromes related to radiation
def: "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure." [Orphanet:164726]
subset: ordo_disease {source="Orphanet:164726"}
synonym: "AML and myelodysplastic syndromes related to radiation" EXACT [Orphanet:164726]
xref: Orphanet:164726 {source="MONDO:equivalentTo"}
xref: UMLS:CN199981 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019457 {source="Orphanet:164726"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199981
property_value: exactMatch Orphanet:164726

[Term]
id: MONDO:0015609
name: advanced sleep phase syndrome
def: "Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." [Orphanet:164736]
subset: ordo_disease {source="Orphanet:164736"}
synonym: "advanced sleep phase syndrome, familial" RELATED [GARD:0009242]
synonym: "familial advanced sleep phase syndrome" RELATED [GARD:0009242]
synonym: "familial advanced sleep-phase syndrome" EXACT [DOID:0050628]
synonym: "FASPS" EXACT [Orphanet:164736]
xref: DOID:0050628 {source="MONDO:equivalentTo"}
xref: GARD:0009242 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G47.2 {source="MONDO:relatedTo", source="Orphanet:164736", source="ORDO:164736/attributed", source="ORDO:164736/ntbt"}
xref: OMIMPS:604348 {source="MONDO:equivalentTo", source="DOID:0050628"}
xref: Orphanet:164736 {source="MONDO:equivalentTo", source="DOID:0050628"}
xref: SCTID:715829003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0019117 {source="Orphanet:164736"} ! genetic nervous system disorder
is_a: MONDO:0024361 ! circadian rhythm sleep disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1858496
property_value: exactMatch DOID:0050628
property_value: exactMatch http://identifiers.org/snomedct/715829003
property_value: exactMatch Orphanet:164736

[Term]
id: MONDO:0015610
name: acquired aplastic anemia
def: "An instance of aplastic anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:164823"}
synonym: "acquired aplastic anemia" EXACT [MONDO:patterns/acquired]
synonym: "rare acquired aplastic anemia" RELATED [Orphanet:164823]
xref: EFO:0006926 {source="MONDO:equivalentTo"}
xref: ICD10:D61.1 {source="ORDO:164823/btnt", source="Orphanet:164823"}
xref: ICD10:D61.2 {source="ORDO:164823/btnt", source="Orphanet:164823"}
xref: Orphanet:164823 {source="MONDO:equivalentTo"}
xref: SCTID:55907008 {source="MONDO:equivalentTo"}
xref: UMLS:C0271907 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015909 {source="MONDO:Redundant", source="Orphanet:164823", source="linkedlifedata"} ! aplastic anemia
intersection_of: MONDO:0015909 ! aplastic anemia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/55907008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271907
property_value: exactMatch Orphanet:164823

[Term]
id: MONDO:0015611
name: neutral lipid storage disease
def: "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished." [Orphanet:165]
comment: Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype.
subset: ordo_group_of_disorders {source="Orphanet:165"}
synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729]
synonym: "lipidosis with triglycerid storage disease" RELATED [GARD:0003262]
synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165]
xref: DOID:0050729 {source="MONDO:equivalentTo"}
xref: GARD:0003262 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.5 {source="ORDO:165/attributed", source="ORDO:165/ntbt", source="Orphanet:165"}
xref: Orphanet:165 {source="MONDO:equivalentTo"}
xref: UMLS:CN199983 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016117 {source="Orphanet:165"} ! muscular lipidosis
is_a: MONDO:0018120 {source="Orphanet:165"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
is_a: MONDO:0019245 {source="DOID:0050729", source="MONDO:cjm"} ! lysosomal lipid storage disorder
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch DOID:0050729
property_value: exactMatch http://identifiers.org/mesh/C536560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199983
property_value: exactMatch Orphanet:165

[Term]
id: MONDO:0015612
name: Dent disease
def: "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." [Orphanet:1652]
subset: ordo_disease {source="Orphanet:1652"}
synonym: "Dent disease 1" NARROW [DOID:0050699]
synonym: "Dent disease 2" NARROW [DOID:0050699]
synonym: "Dent syndrome" EXACT [Orphanet:1652]
synonym: "Dent's disease" EXACT [DOID:0050699]
synonym: "Dents disease" RELATED [GARD:0013105]
synonym: "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis" EXACT [Orphanet:1652]
synonym: "renal Fanconi syndrome with nephrocalcinosis and renal stones" EXACT [Orphanet:1652]
synonym: "X-linked recessive hypercalciuric hypophosphatemic rickets" EXACT [Orphanet:1652]
synonym: "X-linked recessive hypophosphatemic rickets" EXACT [NCIT:C123260]
synonym: "X-linked recessive nephrolithiasis" EXACT [Orphanet:1652]
xref: DOID:0050699 {source="MONDO:equivalentTo"}
xref: GARD:0013105 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N25.8 {source="Orphanet:1652", source="ORDO:1652/attributed", source="ORDO:1652/ntbt"}
xref: MedDRA:10069199 {source="ORDO:1652/e", source="Orphanet:1652"}
xref: MESH:D057973 {source="ORDO:1652/e", source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699"}
xref: NCIT:C123260 {source="MONDO:equivalentTo", source="DOID:0050699", source="MONDO:kboom-pr-0.86/0.69/0.33"}
xref: OMIMPS:300009 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1652 {source="MONDO:equivalentTo", source="DOID:0050699"}
xref: SCTID:444645005 {source="MONDO:equivalentTo", source="DOID:0050699", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0878681 {source="MEDGEN:kboom-pr98-c99", source="ORDO:1652/e", source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699"}
xref: UMLS:CN239269 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006510 {source="DOID:0050699", source="MESH:D057973"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:1652", source="Orphanet:1652/inferred"} ! inherited renal tubular disease
relationship: excluded_subClassOf MONDO:0005520 {source="NCIT:C123260"} ! rickets (disease)
property_value: closeMatch http://identifiers.org/mesh/C564487
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845168
property_value: exactMatch DOID:0050699
property_value: exactMatch http://identifiers.org/meddra/10069199
property_value: exactMatch http://identifiers.org/mesh/C545036
property_value: exactMatch http://identifiers.org/mesh/D057973
property_value: exactMatch http://identifiers.org/snomedct/444645005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1839874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239269
property_value: exactMatch NCIT:C123260
property_value: exactMatch Orphanet:1652

[Term]
id: MONDO:0015613
name: dentin dysplasia
def: "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." [Orphanet:1653]
subset: ordo_disease {source="Orphanet:1653"}
synonym: "DD" EXACT [Orphanet:1653]
synonym: "dentinal dysplasia" EXACT [DOID:701]
xref: DOID:701 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/ntbt", source="ORDO:1653/inclusion"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003805 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1653 {source="MONDO:equivalentTo"}
xref: SCTID:109492001 {source="DOID:701", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0002220 {source="DOID:701", source="linkedlifedata"} ! tooth hard tissue disease
is_a: MONDO:0015668 {source="Orphanet:1653"} ! hereditary dentin defect
property_value: closeMatch http://identifiers.org/snomedct/45742009
property_value: closeMatch Orphanet:1635
property_value: exactMatch DOID:701
property_value: exactMatch http://identifiers.org/mesh/D003805
property_value: exactMatch http://identifiers.org/snomedct/109492001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011430
property_value: exactMatch Orphanet:1653

[Term]
id: MONDO:0015614
name: dermatitis herpetiformis
def: "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." [Orphanet:1656]
subset: ordo_disease {source="Orphanet:1656"}
synonym: "dermatitis herpetiformis" EXACT [DOID:8505, ICD9CM_2006:694.0, MONDO:0006538]
synonym: "dermatosis herpetiformis" EXACT [DOID:8505, MTHICD9_2006:694.0]
synonym: "Duhring's disease" EXACT [CSP2005:4008-0032, DOID:8505]
synonym: "Durhing-Brocq disease" EXACT [Orphanet:1656]
xref: COHD:140487 {source="MONDO:equivalentTo"}
xref: DOID:8505 {source="MONDO:equivalentTo", source="EFO:1000684"}
xref: EFO:1000684 {source="MONDO:equivalentTo"}
xref: ICD10:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="ORDO:1656/e", source="Orphanet:1656"}
xref: ICD9:694.0 {source="DOID:8505", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10012468 {source="ORDO:1656/e", source="Orphanet:1656"}
xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="ORDO:1656/e", source="Orphanet:1656"}
xref: NCIT:C26742 {source="DOID:8505", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:1656 {source="MONDO:equivalentTo"}
xref: SCTID:111196000 {source="DOID:8505", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0011608 {source="DOID:8505", source="MONDO:equivalentTo", source="NCIT:C26742", source="ORDO:1656/e", source="Orphanet:1656"}
xref: Wikipedia:Dermatitis_herpetiformis {source="EFO:1000684"}
is_a: MONDO:0019337 {source="DOID:8505", source="EFO:1000684", source="Orphanet:1656"} ! autoimmune bullous skin disease
property_value: closeMatch http://identifiers.org/snomedct/156354007
property_value: closeMatch http://identifiers.org/snomedct/200899006
property_value: exactMatch DOID:8505
property_value: exactMatch http://identifiers.org/meddra/10012468
property_value: exactMatch http://identifiers.org/mesh/D003874
property_value: exactMatch http://identifiers.org/snomedct/111196000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011608
property_value: exactMatch NCIT:C26742
property_value: exactMatch Orphanet:1656

[Term]
id: MONDO:0015615
name: obsolete rare genetic gastroenterological disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:165652"}
synonym: "rare genetic gastrointestinal system disease" EXACT [MONDO:cjm]
xref: Orphanet:165652 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199991 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr93-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199991
property_value: exactMatch Orphanet:165652
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004335

[Term]
id: MONDO:0015616
name: obsolete rare genetic intestinal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:165655"}
synonym: "genetic intestinal disease" EXACT [Orphanet:165655]
xref: Orphanet:165655 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199992 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199992
property_value: exactMatch Orphanet:165655
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005020

[Term]
id: MONDO:0015617
name: genetic gastro-esophageal disease
subset: ordo_group_of_disorders {source="Orphanet:165658"}
xref: Orphanet:165658 {source="MONDO:equivalentTo"}
xref: UMLS:CN199993 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015111 ! gastroesophageal disease
intersection_of: MONDO:0015111 ! gastroesophageal disease
intersection_of: disease_has_feature MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199993
property_value: exactMatch Orphanet:165658

[Term]
id: MONDO:0015618
name: obsolete genetic pancreatic disease
subset: ordo_group_of_disorders {source="Orphanet:165661"}
xref: Orphanet:165661 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199994 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199994
property_value: exactMatch Orphanet:165661
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002356

[Term]
id: MONDO:0015619
name: non-syndromic urogenital tract malformation
def: "A urogenital tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:165704"}
synonym: "isolated urogenital tract malformation" EXACT []
synonym: "isolated urogenital tract malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic urogenital tract malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:165704 {source="MONDO:equivalentTo"}
is_a: MONDO:0019356 {source="MONDO:Redundant", source="Orphanet:165704"} ! urogenital tract malformation
intersection_of: MONDO:0019356 ! urogenital tract malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:165704

[Term]
id: MONDO:0015620
name: syndromic urogenital tract malformation
def: "A urogenital tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:165707"}
synonym: "syndrome associated with urogenital tract malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with urogenital tract malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic urogenital tract malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:165707 {source="MONDO:equivalentTo"}
xref: UMLS:CN226715 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019356 {source="MONDO:Redundant", source="Orphanet:165707"} ! urogenital tract malformation
is_a: MONDO:0021145 {source="Orphanet:165707", source="Orphanet:165707/inferred"} ! disease of genitourinary system
intersection_of: MONDO:0019356 ! urogenital tract malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226715
property_value: exactMatch Orphanet:165707

[Term]
id: MONDO:0015621
name: obsolete rare abdominal surgical disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:165711"}
xref: Orphanet:165711 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN199996 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN199996
property_value: exactMatch Orphanet:165711
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015622
name: wound myiasis
subset: ordo_disease {source="Orphanet:165955"}
synonym: "traumatic myiasis" EXACT [Orphanet:165955]
xref: ICD10:B87.1 {source="ORDO:165955/ntbt", source="MONDO:equivalentTo", source="Orphanet:165955"}
xref: ICD9:998.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:165955 {source="MONDO:equivalentTo"}
xref: SCTID:240880004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0344061 {source="MONDO:equivalentTo", source="Orphanet:165955", source="ORDO:165955/e"}
is_a: MONDO:0020568 {source="Orphanet:165955"} ! cutaneous myiasis
property_value: exactMatch http://identifiers.org/snomedct/240880004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344061
property_value: exactMatch Orphanet:165955

[Term]
id: MONDO:0015623
name: cavitary myiasis
def: "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." [Orphanet:165958]
subset: ordo_disease {source="Orphanet:165958"}
xref: ICD10:B87.8 {source="ORDO:165958/ntbt", source="Orphanet:165958"}
xref: Orphanet:165958 {source="MONDO:equivalentTo"}
xref: SCTID:764811001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019147 {source="Orphanet:165958"} ! myiasis
property_value: exactMatch http://identifiers.org/snomedct/764811001
property_value: exactMatch Orphanet:165958

[Term]
id: MONDO:0015624
name: diazoxide-sensitive diffuse hyperinsulinism
subset: ordo_group_of_disorders {source="Orphanet:165985"}
synonym: "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form" EXACT [Orphanet:165985]
xref: ICD10:E16.1 {source="ORDO:165985/attributed", source="ORDO:165985/ntbt", source="Orphanet:165985"}
xref: Orphanet:165985 {source="MONDO:equivalentTo"}
is_a: MONDO:0019010 {source="Orphanet:165985"} ! congenital isolated hyperinsulinism
property_value: exactMatch Orphanet:165985

[Term]
id: MONDO:0015625
name: diazoxide-resistant diffuse hyperinsulinism
def: "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." [Orphanet:165988]
subset: ordo_group_of_disorders {source="Orphanet:165988"}
synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form" EXACT [Orphanet:165988]
xref: ICD10:E16.1 {source="ORDO:165988/attributed", source="ORDO:165988/ntbt", source="Orphanet:165988"}
xref: Orphanet:165988 {source="MONDO:equivalentTo"}
is_a: MONDO:0017186 {source="Orphanet:165988"} ! diazoxide-resistant hyperinsulinism
property_value: exactMatch Orphanet:165988

[Term]
id: MONDO:0015626
name: Charcot-Marie-Tooth disease
def: "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." [NCIT:C75467]
subset: ordo_group_of_disorders {source="Orphanet:166"}
synonym: "Charcot Marie Tooth disease" RELATED [GARD:0006034]
synonym: "Charcot Marie Tooth muscular atrophy" EXACT [CSP2005:2042-7637, DOID:10595]
synonym: "Charcot-Marie-Tooth disease" EXACT [NCIT:C75467]
synonym: "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy" RELATED [Orphanet:166]
synonym: "Charcot-Marie-Tooth hereditary neuropathy" EXACT [Orphanet:166]
synonym: "CMT" EXACT [Orphanet:166]
synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [DOID:10595]
synonym: "CMT/HMSN" EXACT [Orphanet:166]
synonym: "hereditary motor and sensory neuropathy" EXACT [NCIT:C75467]
synonym: "hereditary sensorimotor neuropathy" EXACT [NCIT:C75467]
synonym: "peroneal muscular atrophy" EXACT [DOID:10595, ICD9CM_2006:356.1]
xref: DOID:10595 {source="MONDO:equivalentTo"}
xref: GARD:0006034 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:166/inclusion", source="ORDO:166/ntbt", source="DOID:10595", source="Orphanet:166"}
xref: ICD9:356.1 {source="DOID:10595"}
xref: MedDRA:10034699 {source="ORDO:166/e", source="Orphanet:166"}
xref: MESH:D002607 {source="MONDO:equivalentTo", source="ORDO:166/e", source="DOID:10595", source="Orphanet:166"}
xref: NCIT:C75467 {source="MONDO:equivalentTo", source="DOID:10595"}
xref: OMIMPS:118220 {source="MONDO:equivalentTo", source="DOID:10595"}
xref: Orphanet:166 {source="MONDO:equivalentTo"}
xref: UMLS:C0007959 {source="MONDO:equivalentTo", source="ORDO:166/e", source="DOID:10595", source="NCIT:C75467", source="Orphanet:166"}
is_a: MONDO:0019056 {source="DOID:10595", source="MESH:D002607/inferred"} ! neuromuscular disease
is_a: MONDO:0020127 {source="Orphanet:166"} ! genetic peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/128202008
property_value: closeMatch http://identifiers.org/snomedct/193158000
property_value: closeMatch http://identifiers.org/snomedct/193162006
property_value: closeMatch http://identifiers.org/snomedct/50548001
property_value: exactMatch DOID:10595
property_value: exactMatch http://identifiers.org/meddra/10034699
property_value: exactMatch http://identifiers.org/mesh/D002607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007959
property_value: exactMatch NCIT:C75467
property_value: exactMatch Orphanet:166

[Term]
id: MONDO:0015627
name: multiple epiphyseal dysplasia due to collagen 9 anomaly
def: "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." [Orphanet:166002]
subset: ordo_disease {source="Orphanet:166002"}
xref: DOID:0070305 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="Orphanet:166002", source="MONDO:relatedTo", source="ORDO:166002/attributed", source="ORDO:166002/ntbt"}
xref: Orphanet:166002 {source="MONDO:equivalentTo"}
xref: SCTID:766717008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016648 {source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia (disease)
property_value: exactMatch DOID:0070305
property_value: exactMatch http://identifiers.org/snomedct/766717008
property_value: exactMatch Orphanet:166002

[Term]
id: MONDO:0015628
name: von Willebrand disease type 2A
def: "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers." [Orphanet:166084]
subset: ordo_clinical_subtype {source="Orphanet:166084"}
synonym: "von Willebrand disease, type 2A" EXACT [NCIT:C131686]
synonym: "von Willebrand disease, type 2A" RELATED [NCIT:C131686]
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="Orphanet:166084", source="ORDO:166084/attributed", source="ORDO:166084/ntbt"}
xref: NCIT:C131686 {source="MONDO:equivalentTo"}
xref: Orphanet:166084 {source="MONDO:equivalentTo"}
xref: SCTID:359714009 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C1282968 {source="MONDO:equivalentTo", source="NCIT:C131686", source="Orphanet:166084", source="ORDO:166084/e"}
is_a: MONDO:0013304 {source="MONDOLEX:0015628", source="Orphanet:166084"} ! von Willebrand disease 2
property_value: exactMatch http://identifiers.org/snomedct/359714009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282968
property_value: exactMatch NCIT:C131686
property_value: exactMatch Orphanet:166084

[Term]
id: MONDO:0015629
name: von Willebrand disease type 2B
def: "Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." [Orphanet:166087]
subset: ordo_clinical_subtype {source="Orphanet:166087"}
synonym: "von Willebrand disease, type 2B" EXACT [NCIT:C131687]
synonym: "von Willebrand disease, type 2B" RELATED [NCIT:C131687]
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="Orphanet:166087", source="ORDO:166087/attributed", source="ORDO:166087/ntbt"}
xref: NCIT:C131687 {source="MONDO:equivalentTo"}
xref: Orphanet:166087 {source="MONDO:equivalentTo"}
xref: SCTID:359717002 {source="MONDO:equivalentTo"}
xref: SCTID:359721009 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C1282971 {source="Orphanet:166087", source="MONDO:equivalentTo", source="ORDO:166087/e", source="NCIT:C131687"}
is_a: MONDO:0013304 {source="MONDOLEX:0015629", source="Orphanet:166087"} ! von Willebrand disease 2
property_value: exactMatch http://identifiers.org/snomedct/359717002
property_value: exactMatch http://identifiers.org/snomedct/359721009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282971
property_value: exactMatch NCIT:C131687
property_value: exactMatch Orphanet:166087

[Term]
id: MONDO:0015630
name: von Willebrand disease type 2M
def: "Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." [Orphanet:166090]
comment: Editor note: 2 sctitds refer to same disease
subset: ordo_clinical_subtype {source="Orphanet:166090"}
synonym: "von Willebrand disease, type 2M" EXACT [NCIT:C131688]
synonym: "von Willebrand disease, type 2M" RELATED [NCIT:C131688]
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="ORDO:166090/attributed", source="ORDO:166090/ntbt", source="Orphanet:166090"}
xref: NCIT:C131688 {source="MONDO:equivalentTo"}
xref: Orphanet:166090 {source="MONDO:equivalentTo"}
xref: SCTID:359725000 {source="MONDO:equivalentTo"}
xref: SCTID:359729006 {source="MONDO:kboom-pr-0.88/0.75/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C1282974 {source="MONDO:equivalentTo", source="ORDO:166090/e", source="Orphanet:166090", source="NCIT:C131688"}
is_a: MONDO:0013304 {source="MONDOLEX:0015630", source="Orphanet:166090"} ! von Willebrand disease 2
property_value: exactMatch http://identifiers.org/snomedct/359725000
property_value: exactMatch http://identifiers.org/snomedct/359729006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282974
property_value: exactMatch NCIT:C131688
property_value: exactMatch Orphanet:166090

[Term]
id: MONDO:0015631
name: von Willebrand disease type 2N
def: "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." [Orphanet:166093]
subset: ordo_clinical_subtype {source="Orphanet:166093"}
synonym: "von Willebrand disease Normandy variant" EXACT [NCIT:C131689]
synonym: "von Willebrand disease, type 2N" EXACT [NCIT:C131689]
synonym: "von Willebrand disease, type 2N" RELATED [NCIT:C131689]
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="ORDO:166093/attributed", source="ORDO:166093/ntbt", source="Orphanet:166093"}
xref: NCIT:C131689 {source="MONDO:equivalentTo"}
xref: Orphanet:166093 {source="MONDO:equivalentTo"}
xref: SCTID:359732009 {source="MONDO:kboom-pr-0.88/0.75/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C1282975 {source="NCIT:C131689", source="MONDO:equivalentTo", source="Orphanet:166093", source="ORDO:166093/e"}
is_a: MONDO:0013304 {source="MONDOLEX:0015631", source="Orphanet:166093"} ! von Willebrand disease 2
property_value: exactMatch http://identifiers.org/snomedct/359732009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282975
property_value: exactMatch NCIT:C131689
property_value: exactMatch Orphanet:166093

[Term]
id: MONDO:0015632
name: FASTKD2-related infantile mitochondrial encephalomyopathy
subset: ordo_disease {source="Orphanet:166105"}
xref: ICD10:G71.3 {source="ORDO:166105/attributed", source="ORDO:166105/ntbt", source="Orphanet:166105"}
xref: Orphanet:166105 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016799 {source="Orphanet:166105"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0019058 {source="Orphanet:166105"} ! neurometabolic disease
property_value: exactMatch Orphanet:166105

[Term]
id: MONDO:0015633
name: Bazex syndrome
def: "Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions." [Orphanet:166113]
subset: ordo_disease {source="Orphanet:166113"}
synonym: "acrokeratosis of Bazex" EXACT [Orphanet:166113]
synonym: "acrokeratosis paraneoplastica" EXACT [Orphanet:166113]
synonym: "acrokeratosis paraneoplastica of Bazex" EXACT [Orphanet:166113]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:166113 {source="MONDO:equivalentTo"}
xref: SCTID:238640007 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0406355 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:166113", source="MONDO:equivalentTo"}
xref: UMLS:CN200039 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015945 {source="Orphanet:166113"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0019546 {source="Orphanet:166113"} ! other acquired skin disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://identifiers.org/snomedct/238640007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200039
property_value: exactMatch Orphanet:166113

[Term]
id: MONDO:0015634
name: isolated osteopoikilosis
def: "A osteopoikilosis (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_disease {source="Orphanet:166119"}
synonym: "isolated osteopoikilosis (disease)" EXACT []
synonym: "nonsyndromic osteopoikilosis (disease)" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q78.8 {source="ORDO:166119/inclusion", source="ORDO:166119/ntbt", source="Orphanet:166119"}
xref: Orphanet:166119 {source="MONDO:equivalentTo"}
is_a: MONDO:0001414 ! osteopoikilosis (disease)
is_a: MONDO:0008157 ! Buschke-Ollendorff syndrome
intersection_of: MONDO:0001414 ! osteopoikilosis (disease)
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029455
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833699
property_value: exactMatch Orphanet:166119

[Term]
id: MONDO:0015635
name: porokeratotic eccrine ostial and dermal duct nevus
def: "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." [NCIT:C4740]
subset: ordo_disease {source="Orphanet:166286"}
synonym: "comedo nevus of the palm" EXACT [Orphanet:166286]
synonym: "linear eccrine Nevus with comedones" EXACT [NCIT:C4740]
synonym: "Porokeratotic eccrine duct and hair follicle Nevus" EXACT [NCIT:C4740]
synonym: "Porokeratotic eccrine nevus" EXACT [Orphanet:166286]
xref: ICD10:Q82.5 {source="Orphanet:166286", source="ORDO:166286/attributed", source="ORDO:166286/ntbt"}
xref: NCIT:C4740 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:166286 {source="MONDO:equivalentTo"}
xref: SCTID:239118007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.38"}
xref: UMLS:C0473579 {source="Orphanet:166286", source="ORDO:166286/e", source="MONDO:equivalentTo", source="NCIT:C4740"}
is_a: MONDO:0005073 {source="Orphanet:166286"} ! melanocytic nevus
is_a: MONDO:0024247 ! benign eccrine neoplasm
is_a: MONDO:0024482 {source="NCIT:C4740"} ! eccrine sweat gland hamartoma
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:166286"} ! inherited skin tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/239118007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473579
property_value: exactMatch NCIT:C4740
property_value: exactMatch Orphanet:166286

[Term]
id: MONDO:0015636
name: dirofilariasis
def: "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." [MESH:D004184]
subset: gard_rare {source="GARD:0011908"}
subset: ordo_disease {source="Orphanet:166291"}
synonym: "Dirofilaria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dirofilaria disease or disorder" EXACT []
synonym: "Dirofilaria infectious disease" EXACT [DOID:1082, MTHICD9_2006:125.6]
synonym: "infection by Dirofilaria" EXACT [DOID:1082]
xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"}
xref: EFO:0007239 {source="MONDO:equivalentTo"}
xref: GARD:0011908 {source="MONDO:equivalentTo"}
xref: ICD10:B74.8 {source="ORDO:166291/ntbt", source="Orphanet:166291", source="DOID:1082"}
xref: ICD9:125.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004184 {source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="MONDO:ontobio", source="ORDO:166291/e", source="DOID:1082"}
xref: Orphanet:166291 {source="MONDO:equivalentTo"}
xref: SCTID:73328005 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo", source="DOID:1082"}
xref: UMLS:C0012602 {source="MONDO:equivalentTo", source="Orphanet:166291", source="ORDO:166291/e", source="DOID:1082"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
is_a: MONDO:0016075 {source="DOID:1082", source="MESH:D004184", source="Orphanet:166291", source="linkedlifedata"} ! filariasis
property_value: exactMatch DOID:1082
property_value: exactMatch http://identifiers.org/mesh/D004184
property_value: exactMatch http://identifiers.org/snomedct/73328005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012602
property_value: exactMatch Orphanet:166291
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis xsd:anyURI {source="GARD:0011908"}

[Term]
id: MONDO:0015637
name: benign non-familial infantile seizures
subset: ordo_group_of_disorders {source="Orphanet:166295"}
xref: ICD10:G40.4 {source="ORDO:166295/attributed", source="ORDO:166295/ntbt", source="Orphanet:166295"}
xref: Orphanet:166295 {source="MONDO:equivalentTo"}
xref: UMLS:CN226716 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015642 {source="Orphanet:166295"} ! benign partial infantile seizures
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226716
property_value: exactMatch Orphanet:166295

[Term]
id: MONDO:0015638
name: benign partial epilepsy of infancy with complex partial seizures
def: "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal." [Orphanet:166299]
subset: ordo_disease {source="Orphanet:166299"}
xref: ICD10:G40.2 {source="Orphanet:166299", source="ORDO:166299/attributed", source="ORDO:166299/ntbt"}
xref: Orphanet:166299 {source="MONDO:equivalentTo"}
xref: UMLS:CN226717 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015637 {source="Orphanet:166299"} ! benign non-familial infantile seizures
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226717
property_value: exactMatch Orphanet:166299

[Term]
id: MONDO:0015639
name: benign partial epilepsy with secondarily generalized seizures in infancy
def: "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." [Orphanet:166302]
subset: ordo_disease {source="Orphanet:166302"}
xref: ICD10:G40.1 {source="ORDO:166302/attributed", source="ORDO:166302/ntbt", source="Orphanet:166302"}
xref: Orphanet:166302 {source="MONDO:equivalentTo"}
xref: UMLS:CN226718 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015637 {source="Orphanet:166302"} ! benign non-familial infantile seizures
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226718
property_value: exactMatch Orphanet:166302

[Term]
id: MONDO:0015640
name: benign infantile seizures associated with mild gastroenteritis
def: "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness." [Orphanet:166305]
subset: ordo_disease {source="Orphanet:166305"}
xref: Orphanet:166305 {source="MONDO:equivalentTo"}
xref: SCTID:765756007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015642 {source="Orphanet:166305"} ! benign partial infantile seizures
property_value: exactMatch http://identifiers.org/snomedct/765756007
property_value: exactMatch Orphanet:166305

[Term]
id: MONDO:0015641
name: benign infantile focal epilepsy with midline spikes and wave during sleep
def: "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." [Orphanet:166308]
subset: ordo_disease {source="Orphanet:166308"}
synonym: "benign infantile focal epilepsy with midline spikes and waves during sleep" RELATED [Orphanet:166308]
synonym: "BIMSE" EXACT [Orphanet:166308]
xref: Orphanet:166308 {source="MONDO:equivalentTo"}
is_a: MONDO:0015642 {source="Orphanet:166308"} ! benign partial infantile seizures
property_value: exactMatch Orphanet:166308

[Term]
id: MONDO:0015642
name: benign partial infantile seizures
subset: ordo_group_of_disorders {source="Orphanet:166311"}
xref: Orphanet:166311 {source="MONDO:equivalentTo"}
is_a: MONDO:0020071 {source="Orphanet:166311"} ! infantile epilepsy syndrome
property_value: exactMatch Orphanet:166311

[Term]
id: MONDO:0015643
name: photosensitive epilepsy
def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." [DOID:0060281, http://en.wikipedia.org/wiki/Photosensitive_epilepsy]
subset: gard_rare {source="GARD:0005648"}
subset: ordo_disease {source="Orphanet:166409"}
synonym: "photogenic epilepsy" EXACT [DOID:0060281]
synonym: "photoparoxysmal response" EXACT [DOID:0060281]
synonym: "PSE" RELATED [GARD:0005648]
xref: DOID:0060281 {source="MONDO:equivalentTo"}
xref: GARD:0005648 {source="MONDO:equivalentTo"}
xref: ICD10:G40.8 {source="DOID:0060281", source="ORDO:166409/ntbt", source="Orphanet:166409"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:132100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:166409 {source="MONDO:equivalentTo", source="DOID:0060281"}
xref: SCTID:95208000 {source="MONDO:kboom-pr-0.89/0.75/0.44", source="MONDO:equivalentTo"}
xref: UMLS:C0393720 {source="MONDO:equivalentTo", source="ORDO:166409/e", source="Orphanet:166409"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166409", source="linkedlifedata"} ! reflex epilepsy
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: exactMatch DOID:0060281
property_value: exactMatch http://identifiers.org/snomedct/95208000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393720
property_value: exactMatch Orphanet:166409
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy xsd:anyURI {source="GARD:0005648"}

[Term]
id: MONDO:0015644
name: audiogenic seizures
def: "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice)." [Orphanet:166415]
subset: ordo_disease {source="Orphanet:166415"}
xref: ICD10:G40.8 {source="ORDO:166415/ntbt", source="Orphanet:166415"}
xref: Orphanet:166415 {source="MONDO:equivalentTo"}
xref: SCTID:765216006 {source="MONDO:equivalentTo"}
xref: UMLS:C0751791 {source="MONDO:equivalentTo", source="Orphanet:166415", source="ORDO:166415/e"}
is_a: MONDO:0017768 {source="Orphanet:166415"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/snomedct/765216006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751791
property_value: exactMatch Orphanet:166415

[Term]
id: MONDO:0015645
name: eating seizures
subset: ordo_disease {source="Orphanet:166418"}
synonym: "eating epilepsy" EXACT [Orphanet:166418]
synonym: "eating reflex epilepsy" RELATED [Orphanet:166418]
xref: ICD10:G40.8 {source="ORDO:166418/ntbt", source="Orphanet:166418"}
xref: Orphanet:166418 {source="MONDO:equivalentTo"}
xref: SCTID:230450001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393725 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:166418/e", source="Orphanet:166418"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166418", source="linkedlifedata"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/snomedct/230450001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393725
property_value: exactMatch Orphanet:166418

[Term]
id: MONDO:0015646
name: orgasm-induced seizures
def: "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine." [Orphanet:166421]
subset: ordo_disease {source="Orphanet:166421"}
xref: ICD10:G40.8 {source="Orphanet:166421", source="ORDO:166421/ntbt"}
xref: Orphanet:166421 {source="MONDO:equivalentTo"}
xref: UMLS:CN200056 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166421"} ! reflex epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200056
property_value: exactMatch Orphanet:166421

[Term]
id: MONDO:0015647
name: thinking seizures
def: "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." [Orphanet:166424]
subset: ordo_disease {source="Orphanet:166424"}
xref: ICD10:G40.8 {source="ORDO:166424/ntbt", source="Orphanet:166424"}
xref: Orphanet:166424 {source="MONDO:equivalentTo"}
xref: SCTID:763622006 {source="MONDO:equivalentTo"}
xref: UMLS:CN200057 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166424"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/snomedct/763622006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200057
property_value: exactMatch Orphanet:166424

[Term]
id: MONDO:0015648
name: startle epilepsy
def: "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." [Orphanet:166427]
subset: ordo_disease {source="Orphanet:166427"}
xref: ICD10:G40.8 {source="ORDO:166427/ntbt", source="Orphanet:166427"}
xref: Orphanet:166427 {source="MONDO:equivalentTo"}
xref: SCTID:763632004 {source="MONDO:equivalentTo"}
xref: UMLS:CN200058 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166427"} ! reflex epilepsy
property_value: exactMatch http://identifiers.org/snomedct/763632004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200058
property_value: exactMatch Orphanet:166427

[Term]
id: MONDO:0015649
name: micturation-induced seizures
def: "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." [Orphanet:166430]
subset: ordo_disease {source="Orphanet:166430"}
xref: ICD10:G40.8 {source="Orphanet:166430", source="ORDO:166430/ntbt"}
xref: Orphanet:166430 {source="MONDO:equivalentTo"}
xref: UMLS:CN200059 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166430"} ! reflex epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200059
property_value: exactMatch Orphanet:166430

[Term]
id: MONDO:0015650
name: epilepsy syndrome
subset: ordo_group_of_disorders {source="Orphanet:166463"}
synonym: "syndromic epilepsy" EXACT [MONDO:cjm]
xref: Orphanet:166463 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166463"} ! epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: exactMatch Orphanet:166463

[Term]
id: MONDO:0015651
name: neurocutaneous syndrome with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166466"}
xref: Orphanet:166466 {source="MONDO:equivalentTo"}
xref: UMLS:CN200062 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0042983 {source="MONDO:Redundant", source="MONDO:cjm"} ! neurocutaneous syndrome
intersection_of: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome
intersection_of: disease_has_major_feature MONDO:0005027 {source="MONDO:cjm"} ! epilepsy
relationship: disease_has_major_feature MONDO:0005027 ! epilepsy
relationship: excluded_subClassOf MONDO:0015955 {source="Orphanet:166466"} ! obsolete rare genetic epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200062
property_value: exactMatch Orphanet:166466

[Term]
id: MONDO:0015652
name: chromosomal anomaly with epilepsy as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:166469"}
xref: Orphanet:166469 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005027 {source="MONDO:Redundant", source="Orphanet:166469"} ! epilepsy
is_a: MONDO:0019040 ! chromosomal anomaly
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0019040 ! chromosomal anomaly
intersection_of: disease_has_major_feature MONDO:0005027 ! epilepsy
relationship: disease_has_major_feature MONDO:0005027 ! epilepsy
property_value: exactMatch Orphanet:166469
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0015653
name: monogenic epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166472"}
synonym: "monogenic disease with epilepsy" EXACT [Orphanet:166472]
xref: Orphanet:166472 {source="MONDO:equivalentTo"}
xref: UMLS:CN200063 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166472"} ! epilepsy
is_a: MONDO:0017656 ! motor stereotypies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200063
property_value: exactMatch Orphanet:166472

[Term]
id: MONDO:0015654
name: idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
subset: ordo_group_of_disorders {source="Orphanet:166475"}
xref: Orphanet:166475 {source="MONDO:equivalentTo"}
xref: UMLS:CN200064 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166475"} ! epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200064
property_value: exactMatch Orphanet:166475

[Term]
id: MONDO:0015655
name: cerebral malformation with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166478"}
xref: Orphanet:166478 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 ! epilepsy
is_a: MONDO:0016054 ! cerebral malformation
intersection_of: MONDO:0016054 ! cerebral malformation
intersection_of: disease_has_feature MONDO:0005027 ! epilepsy
relationship: disease_has_feature MONDO:0005027 ! epilepsy
relationship: excluded_subClassOf MONDO:0015955 {source="Orphanet:166478"} ! obsolete rare genetic epilepsy
property_value: exactMatch Orphanet:166478

[Term]
id: MONDO:0015656
name: metabolic disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166481"}
synonym: "metabolic diseases with epilepsy" EXACT [Orphanet:166481]
xref: Orphanet:166481 {source="MONDO:equivalentTo"}
xref: UMLS:C1299598 {source="MONDO:equivalentTo", source="ORDO:166481/e", source="Orphanet:166481"}
is_a: MONDO:0005027 {source="Orphanet:166481"} ! epilepsy
is_a: MONDO:0005066 ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_major_feature MONDO:0005027 ! epilepsy
relationship: disease_has_major_feature MONDO:0005027 ! epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015139"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299598
property_value: exactMatch Orphanet:166481

[Term]
id: MONDO:0015657
name: inflammatory and autoimmune disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166484"}
xref: Orphanet:166484 {source="MONDO:equivalentTo"}
xref: UMLS:CN200066 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166484"} ! epilepsy
relationship: disease_has_major_feature MONDO:0005027 ! epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015139"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200066
property_value: exactMatch Orphanet:166484

[Term]
id: MONDO:0015658
name: cerebral diseases of vascular origin with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166487"}
xref: Orphanet:166487 {source="MONDO:equivalentTo"}
xref: UMLS:CN200067 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166487"} ! epilepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200067
property_value: exactMatch Orphanet:166487

[Term]
id: MONDO:0015659
name: infectious disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166490"}
xref: Orphanet:166490 {source="MONDO:equivalentTo"}
xref: UMLS:CN200068 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="Orphanet:166490"} ! epilepsy
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200068
property_value: exactMatch Orphanet:166490

[Term]
id: MONDO:0015660
name: sporadic fetal brain disruption sequence
def: "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." [Orphanet:1665]
subset: ordo_malformation_syndrome {source="Orphanet:1665"}
xref: ICD10:Q02 {source="ORDO:1665/ntbt", source="Orphanet:1665"}
xref: Orphanet:1665 {source="MONDO:equivalentTo"}
xref: SCTID:763717004 {source="MONDO:equivalentTo"}
xref: UMLS:CN237425 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016054 {source="Orphanet:1665"} ! cerebral malformation
property_value: exactMatch http://identifiers.org/snomedct/763717004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237425
property_value: exactMatch Orphanet:1665

[Term]
id: MONDO:0015661
name: dextrocardia (disease)
def: "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." [NCIT:P378]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:1666"}
synonym: "dextrocardia" EXACT [MONDO:ambiguous]
synonym: "heart predominantly in right hemithorax" EXACT [DOID:9565]
xref: COHD:4100815 {source="MONDO:equivalentTo"}
xref: DOID:9565 {source="MONDO:equivalentTo"}
xref: GARD:0001827 {source="MONDO:equivalentTo"}
xref: HP:0001651 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q24.0 {source="Orphanet:1666", source="ORDO:1666/e", source="DOID:9565"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10012592 {source="Orphanet:1666", source="ORDO:1666/e"}
xref: MESH:D003914 {source="MONDO:equivalentTo", source="Orphanet:1666", source="ORDO:1666/e", source="DOID:9565"}
xref: MONDO:0004823 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C84669 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:9565"}
xref: Orphanet:1666 {source="MONDO:equivalentTo"}
xref: SCTID:27637000 {source="MONDO:relatedTo", source="MONDO:kboom-pr-0.88/0.76/0.05", source="MONDO:equivalentTo", source="DOID:9565"}
is_a: MONDO:0005453 {source="DOID:9565", source="MESH:D003914"} ! congenital heart disease
is_a: MONDO:0018677 {source="Orphanet:1666"} ! visceral heterotaxy
property_value: closeMatch http://identifiers.org/snomedct/156925007
property_value: exactMatch DOID:9565
property_value: exactMatch http://identifiers.org/meddra/10012592
property_value: exactMatch http://identifiers.org/mesh/D003914
property_value: exactMatch http://identifiers.org/snomedct/27637000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265863
property_value: exactMatch NCIT:C84669
property_value: exactMatch Orphanet:1666

[Term]
id: MONDO:0015662
name: hemorrhagic disorder due to an acquired coagulation factor defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:166775"}
synonym: "rare bleeding disorder due to an acquired coagulation factor defect" EXACT [Orphanet:166775]
synonym: "rare coagulopathy due to an acquired coagulation factor defect" EXACT [Orphanet:166775]
xref: Orphanet:166775 {source="MONDO:equivalentTo"}
xref: UMLS:CN226721 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016628 {source="Orphanet:166775"} ! hemorrhagic disorder due to a coagulation factors defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226721
property_value: exactMatch Orphanet:166775
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015663
name: diencephalic syndrome
def: "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." [Orphanet:1672]
subset: gard_rare {source="GARD:0006276"}
subset: ordo_disease {source="Orphanet:1672"}
synonym: "diencephalic cachexia" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of childhood" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of emaciation" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of infancy" EXACT [NCIT:C116955]
synonym: "Russell diencephalic cachexia" EXACT [Orphanet:1672]
synonym: "Russell syndrome" EXACT [Orphanet:1672]
xref: GARD:0006276 {source="MONDO:equivalentTo"}
xref: ICD10:C72.8 {source="Orphanet:1672", source="ORDO:1672/ntbt"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116955 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:1672 {source="MONDO:equivalentTo"}
xref: SCTID:237733001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0271889 {source="Orphanet:1672", source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo", source="NCIT:C116955"}
xref: UMLS:C0342436 {source="ORDO:1672/e", source="Orphanet:1672", source="MONDO:equivalentTo"}
xref: UMLS:CN200089 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0015663", source="NCIT:C116955"} ! syndromic disease
is_a: MONDO:0015889 {source="Orphanet:1672"} ! rare hypothalamic or pituitary disease
property_value: exactMatch http://identifiers.org/snomedct/237733001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200089
property_value: exactMatch NCIT:C116955
property_value: exactMatch Orphanet:1672
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome xsd:anyURI {source="GARD:0006276"}

[Term]
id: MONDO:0015664
name: idiopathic pulmonary artery dilatation
def: "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." [Orphanet:1676]
subset: gard_rare {source="GARD:0006757"}
subset: ordo_disease {source="Orphanet:1676"}
synonym: "idiopathic dilatation of the pulmonary artery" RELATED [GARD:0006757]
xref: GARD:0006757 {source="MONDO:equivalentTo"}
xref: ICD10:E25.7 {source="ORDO:1676/ntbt", source="Orphanet:1676"}
xref: Orphanet:1676 {source="MONDO:equivalentTo"}
is_a: MONDO:0020287 {source="Orphanet:1676"} ! pulmonary artery or pulmonary branch anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384816
property_value: exactMatch Orphanet:1676
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery xsd:anyURI {source="GARD:0006757"}

[Term]
id: MONDO:0015665
name: scleromyxedema
def: "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin ( mucinosis ), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG) , plasmapheresis , thalidomide and corticoids , or more aggressive interventions, such as autologous bone marrow transplantation ." [https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema]
subset: gard_rare {source="GARD:0007615"}
subset: ordo_disease {source="Orphanet:167635"}
synonym: "Arndt-Gottron disease" EXACT [Orphanet:167635]
synonym: "generalized lichenoid papular eruption" EXACT [Orphanet:167635]
synonym: "generalized papular and sclerodermoid" RELATED [GARD:0007615]
synonym: "generalized papular and sclerodermoid lichen myxedematosus" EXACT [Orphanet:167635]
synonym: "lichen myxedematosus" RELATED [MESH:D053718]
synonym: "mucinosis, papular" RELATED [MESH:D053718]
synonym: "myxedematosus, lichen" RELATED [MESH:D053718]
synonym: "papular mucinosis" RELATED [MESH:D053718]
synonym: "Scleromyxedema" EXACT [NCIT:C85061]
synonym: "scleromyxoedema" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
xref: GARD:0007615 {source="MONDO:equivalentTo"}
xref: ICD10:L98.5 {source="ORDO:167635/ntbt", source="Orphanet:167635"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10055046 {source="ORDO:167635/e", source="Orphanet:167635"}
xref: MESH:D053718 {source="MONDO:equivalentTo", source="ORDO:167635/e", source="Orphanet:167635"}
xref: NCIT:C85061 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:167635 {source="MONDO:equivalentTo"}
xref: SCTID:402468007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.63"}
xref: UMLS:C0263390 {source="NCIT:C85061", source="MONDO:equivalentTo", source="ORDO:167635/e", source="Orphanet:167635"}
xref: UMLS:CN200092 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018432 {source="MONDO:Redundant", source="MONDOLEX:0015665", source="Orphanet:167635", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata"} ! lichen myxedematosus
property_value: exactMatch http://identifiers.org/meddra/10055046
property_value: exactMatch http://identifiers.org/mesh/D053718
property_value: exactMatch http://identifiers.org/snomedct/402468007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263390
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200092
property_value: exactMatch NCIT:C85061
property_value: exactMatch Orphanet:167635
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema xsd:anyURI {source="GARD:0007615"}

[Term]
id: MONDO:0015666
name: familial idiopathic dilatation of the right atrium (disease)
def: "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." [Orphanet:1677]
subset: ordo_morphological_anomaly {source="Orphanet:1677"}
xref: ICD10:Q20.8 {source="ORDO:1677/attributed", source="ORDO:1677/ntbt", source="Orphanet:1677"}
xref: Orphanet:1677 {source="MONDO:equivalentTo"}
xref: SCTID:716773002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:CN200093 {source="MONDO:equivalentTo"}
is_a: MONDO:0020294 {source="Orphanet:1677"} ! atrial defect and interatrial communication
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} ! obsolete genetic cardiac malformation
property_value: exactMatch http://identifiers.org/snomedct/716773002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200093
property_value: exactMatch Orphanet:1677

[Term]
id: MONDO:0015667
name: unclassified acute myeloid leukemia
def: "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." [NCIT:C27753]
subset: gard_rare {source="GARD:0012760"}
subset: ordo_group_of_disorders {source="Orphanet:167714"}
synonym: "acute myeloid leukemia" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia NOS" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia not otherwise categorized" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia not otherwise specified" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia, NOS" EXACT [NCIT:C27753]
synonym: "AML, NOS" EXACT [NCIT:C27753]
synonym: "unclassified AML" EXACT [Orphanet:167714]
xref: GARD:0012760 {source="MONDO:equivalentTo"}
xref: NCIT:C27753 {source="MONDO:equivalentTo"}
xref: Orphanet:167714 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="MONDOLEX:0015667", source="NCIT:C27753", source="Orphanet:167714"} ! acute myeloid leukemia
property_value: exactMatch NCIT:C27753
property_value: exactMatch Orphanet:167714
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia xsd:anyURI {source="GARD:0012760"}

[Term]
id: MONDO:0015668
name: hereditary dentin defect
def: "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." [Orphanet:167759]
subset: ordo_group_of_disorders {source="Orphanet:167759"}
xref: ICD10:K00.5 {source="ORDO:167759/attributed", source="ORDO:167759/ntbt", source="Orphanet:167759"}
xref: Orphanet:167759 {source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:167759"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:167759"} ! rare genetic odontal or periodontal disorder
property_value: exactMatch Orphanet:167759

[Term]
id: MONDO:0015669
name: rare disease with dentinogenesis imperfecta
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:167762"}
xref: Orphanet:167762 {source="MONDO:equivalentTo"}
is_a: MONDO:0019183 {source="Orphanet:167762"} ! inherited odontologic disease
is_a: MONDO:0020014 {source="Orphanet:167762"} ! rare disease with odontological manifestation
property_value: exactMatch Orphanet:167762
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015670
name: obsolete cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0004994

[Term]
id: MONDO:0015671
name: obsolete diphtheria
is_obsolete: true
replaced_by: MONDO:0005504

[Term]
id: MONDO:0015672
name: diprosopus
def: "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases." [Orphanet:1681]
subset: ordo_morphological_anomaly {source="Orphanet:1681"}
synonym: "craniofacial duplication" EXACT [Orphanet:1681]
synonym: "Diprosopia" EXACT [Orphanet:1681]
xref: GARD:0001876 {source="MONDO:equivalentTo"}
xref: Orphanet:1681 {source="MONDO:equivalentTo"}
xref: SCTID:62192003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0018731 {source="Orphanet:1681"} ! lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/62192003
property_value: exactMatch Orphanet:1681

[Term]
id: MONDO:0015673
name: obsolete rare cardiac tumor
def: "Any of the forms of heart neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:168194"}
synonym: "rare heart neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:168194 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:168194
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021209
consider: UMLS:C0018809 {source="Orphanet:168194"}

[Term]
id: MONDO:0015674
name: late infantile neuronal ceroid lipofuscinosis
def: "Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." [Orphanet:168491]
subset: ordo_disease {source="Orphanet:168491"}
synonym: "amaurotic idiocy early juvenile type" RELATED []
synonym: "amaurotic idiocy late infantile type" RELATED []
synonym: "amaurotic idiocy, early juvenile type" RELATED []
synonym: "amaurotic idiocy, late infantile type" RELATED []
synonym: "Bielschowsky-jansky disease" RELATED []
synonym: "Bielschowsky-jansky type neuronal ceroid lipofuscinosis" RELATED []
synonym: "dollinger-Bielschowsky syndrome" RELATED []
synonym: "dollinger-Bielschowsky type neuronal ceroid lipofuscinosis" RELATED []
synonym: "Jansky-Bielschowsky disease" EXACT [Orphanet:168491]
synonym: "late infantile NCL" EXACT [Orphanet:168491]
synonym: "late infantile neuronal ceroid lipofuscinosis" EXACT []
synonym: "late-infantile neuronal ceroid lipofuscinosis" EXACT []
synonym: "LINCL" EXACT [Orphanet:168491]
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:168491/attributed", source="ORDO:168491/ntbt", source="Orphanet:168491"}
xref: Orphanet:168491 {source="MONDO:equivalentTo"}
xref: SCTID:14637005 {source="MONDO:equivalentTo"}
is_a: MONDO:0016295 {source="Orphanet:168491", source="linkedlifedata/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020074 {source="Orphanet:168491"} ! progressive myoclonic epilepsy
is_a: MONDO:0044976 ! disease of catalytic activity
relationship: excluded_subClassOf MONDO:0019261 {source="linkedlifedata"} ! infantile neuronal ceroid lipofuscinosis
property_value: exactMatch http://identifiers.org/snomedct/14637005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022340
property_value: exactMatch Orphanet:168491

[Term]
id: MONDO:0015675
name: distomatosis
def: "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." [Orphanet:1685]
subset: gard_rare {source="GARD:0001891"}
subset: ordo_disease {source="Orphanet:1685"}
synonym: "distomiasis" EXACT [Orphanet:1685]
synonym: "fluke infection" EXACT [Orphanet:1685]
xref: GARD:0001891 {source="MONDO:equivalentTo"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:121.9 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:1685 {source="MONDO:equivalentTo"}
xref: SCTID:26089000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.11"}
is_a: MONDO:0005135 {source="Orphanet:1685"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040820
property_value: exactMatch http://identifiers.org/snomedct/26089000
property_value: exactMatch Orphanet:1685
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1891/distomatosis xsd:anyURI {source="GARD:0001891"}

[Term]
id: MONDO:0015676
name: obsolete hyperandrogenism due to cortisone reductase deficiency
is_obsolete: true
replaced_by: MONDO:0000193

[Term]
id: MONDO:0015677
name: cardiac diverticulum (disease)
def: "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse." [Orphanet:1686]
subset: ordo_morphological_anomaly {source="Orphanet:1686"}
synonym: "Cardiac diverticulum" EXACT [MONDO:ambiguous]
xref: GARD:0001094 {source="MONDO:equivalentTo"}
xref: HP:0100571 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q24.8 {source="Orphanet:1686", source="ORDO:1686/ntbt"}
xref: Orphanet:1686 {source="MONDO:equivalentTo"}
xref: UMLS:CN226726 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:1686"} ! congenital heart malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226726
property_value: exactMatch Orphanet:1686

[Term]
id: MONDO:0015678
name: dysplasia of head of femur, Meyer type
def: "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." [Orphanet:168621]
subset: ordo_disease {source="Orphanet:168621"}
xref: ICD10:Q78.8 {source="Orphanet:168621", source="ORDO:168621/attributed", source="ORDO:168621/ntbt"}
xref: Orphanet:168621 {source="MONDO:equivalentTo"}
xref: SCTID:715861004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C4274970 {source="MONDO:equivalentTo"}
is_a: MONDO:0019692 {source="Orphanet:168621"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: exactMatch http://identifiers.org/snomedct/715861004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274970
property_value: exactMatch Orphanet:168621

[Term]
id: MONDO:0015679
name: autosomal thrombocytopenia with normal platelets
subset: ordo_etiological_subtype {source="Orphanet:168629"}
xref: ICD10:D69.4 {source="ORDO:168629/attributed", source="ORDO:168629/ntbt", source="Orphanet:168629"}
xref: Orphanet:168629 {source="MONDO:equivalentTo"}
xref: UMLS:CN200175 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017057 {source="Orphanet:168629"} ! hereditary thrombocytopenia with normal platelets
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200175
property_value: exactMatch Orphanet:168629

[Term]
id: MONDO:0015680
name: obsolete rare pervasive developmental disorder
def: "Rare pervasive developmental disorder." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:168778"}
synonym: "rare ASD" NARROW [Orphanet:168778]
synonym: "rare autism spectrum disorder" NARROW [Orphanet:168778]
synonym: "rare PDD" NARROW [Orphanet:168778]
synonym: "rare pervasive developmental disorder" NARROW [MONDO:patterns/rare]
xref: Orphanet:168778 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:168778
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/Orphanet/ORDO/issues/21 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000594
consider: ICD10:F84.0 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.1 {source="ORDO:168778/btnt", source="Orphanet:168778", source="MONDO:superClassOf", source="ORDO:168778/specific"}
consider: ICD10:F84.2 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.3 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.4 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.5 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.8 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: ICD10:F84.9 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"}
consider: MedDRA:10061345 {source="Orphanet:168778", source="ORDO:168778/e"}
consider: MESH:D002659 {source="Orphanet:168778", source="ORDO:168778/e"}
consider: UMLS:C0524528 {source="Orphanet:168778", source="ORDO:168778/e"}

[Term]
id: MONDO:0015681
name: childhood disintegrative disorder
def: "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." [Orphanet:168782]
subset: gard_rare {source="GARD:0006040"}
subset: ordo_disease {source="Orphanet:168782"}
synonym: "dementia infantilis" EXACT [Orphanet:168782]
synonym: "heller syndrome" EXACT [Orphanet:168782]
xref: COHD:441535 {source="MONDO:equivalentTo"}
xref: GARD:0006040 {source="MONDO:equivalentTo"}
xref: ICD10:F84.3 {source="Orphanet:168782", source="ORDO:168782/specific", source="ORDO:168782/e"}
xref: MedDRA:10008522 {source="Orphanet:168782", source="ORDO:168782/e"}
xref: NCIT:C97164 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:168782 {source="MONDO:equivalentTo"}
xref: SCTID:71961003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.29"}
xref: UMLS:C0236791 {source="Orphanet:168782", source="MONDO:equivalentTo", source="NCIT:C97164", source="ORDO:168782/e"}
xref: UMLS:CN072151 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000594 {source="MONDO:Redundant", source="NCIT:C97164", source="Orphanet:168782", source="indirect"} ! pervasive developmental disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015680"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10008522
property_value: exactMatch http://identifiers.org/snomedct/71961003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236791
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072151
property_value: exactMatch NCIT:C97164
property_value: exactMatch Orphanet:168782
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder xsd:anyURI {source="GARD:0006040"}

[Term]
id: MONDO:0015682
name: primary peritoneal tumor
subset: ordo_group_of_disorders {source="Orphanet:168803"}
xref: Orphanet:168803 {source="MONDO:equivalentTo"}
xref: UMLS:CN200180 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="Orphanet:168803"} ! neoplasm (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621", source="MONDO:0020031"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200180
property_value: exactMatch Orphanet:168803

[Term]
id: MONDO:0015683
name: primary malignant peritoneal tumor
subset: ordo_group_of_disorders {source="Orphanet:168807"}
xref: ICD10:C45.1 {source="ORDO:168807/btnt", source="Orphanet:168807"}
xref: ICD10:C48.1 {source="ORDO:168807/btnt", source="Orphanet:168807"}
xref: ICD10:C48.2 {source="ORDO:168807/btnt", source="Orphanet:168807"}
xref: Orphanet:168807 {source="MONDO:equivalentTo"}
xref: UMLS:CN200181 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015682 {source="Orphanet:168807"} ! primary peritoneal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200181
property_value: exactMatch Orphanet:168807

[Term]
id: MONDO:0015684
name: obsolete malignant peritoneal mesothelioma
is_obsolete: true
replaced_by: MONDO:0005512

[Term]
id: MONDO:0015685
name: obsolete peritoneal cystic mesothelioma
is_obsolete: true
replaced_by: MONDO:0006363

[Term]
id: MONDO:0015686
name: primary peritoneal carcinoma (disease)
def: "Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term)." [Orphanet:168829]
subset: ordo_disease {source="Orphanet:168829"}
synonym: "EOPPC" EXACT [Orphanet:168829]
synonym: "Extra-ovarian primary peritoneal carcinoma" EXACT [Orphanet:168829]
synonym: "PPC" EXACT [NCIT:C40022, Orphanet:168829]
synonym: "primary peritoneal cancer" EXACT [NCIT:C40022]
synonym: "primary peritoneal carcinoma" EXACT [MONDO:ambiguous, NCIT:C40022]
synonym: "primary peritoneal serous carcinoma" EXACT [Orphanet:168829]
synonym: "serous surface papillary carcinoma" EXACT [Orphanet:168829]
xref: HP:0030406 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C48.2 {source="ORDO:168829/ntbt", source="Orphanet:168829"}
xref: NCIT:C40022 {source="MONDO:kboom-pr-0.92/0.84/0.18", source="MONDO:equivalentTo"}
xref: Orphanet:168829 {source="MONDO:equivalentTo"}
xref: UMLS:CN200184 {source="MONDO:equivalentTo"}
is_a: MONDO:0015683 {source="Orphanet:168829"} ! primary malignant peritoneal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200184
property_value: exactMatch NCIT:C40022
property_value: exactMatch Orphanet:168829

[Term]
id: MONDO:0015687
name: chronic eosinophilic leukemia
subset: ordo_disease {source="Orphanet:168940"}
xref: ICD10:D47.5 {source="ORDO:168940/e", source="Orphanet:168940"}
xref: MedDRA:10065854 {source="ORDO:168940/e", source="Orphanet:168940"}
xref: MESH:C580364 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:168940 {source="MONDO:equivalentTo"}
xref: SCTID:188733003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0346421 {source="ORDO:168940/e", source="Orphanet:168940", source="MONDO:equivalentTo"}
is_a: MONDO:0020076 {source="Orphanet:168940"} ! myeloproliferative neoplasm
property_value: exactMatch http://identifiers.org/meddra/10065854
property_value: exactMatch http://identifiers.org/mesh/C580364
property_value: exactMatch http://identifiers.org/snomedct/188733003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346421
property_value: exactMatch Orphanet:168940

[Term]
id: MONDO:0015688
name: myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
subset: ordo_group_of_disorders {source="Orphanet:168943"}
synonym: "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1" RELATED [Orphanet:168943]
xref: Orphanet:168943 {source="MONDO:equivalentTo"}
is_a: MONDO:0015756 {source="Orphanet:168943"} ! myeloid hemopathy
property_value: exactMatch Orphanet:168943

[Term]
id: MONDO:0015689
name: myeloid neoplasm associated with PDGFRA rearrangement
def: "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." [Orphanet:168947]
subset: ordo_disease {source="Orphanet:168947"}
synonym: "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" RELATED [Orphanet:168947]
xref: ICD10:D47.1 {source="ORDO:168947/ntbt", source="Orphanet:168947"}
xref: Orphanet:168947 {source="MONDO:equivalentTo"}
xref: SCTID:738527001 {source="MONDO:equivalentTo"}
xref: UMLS:C4545381 {source="MONDO:equivalentTo"}
is_a: MONDO:0015688 {source="Orphanet:168947"} ! myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
property_value: exactMatch http://identifiers.org/snomedct/738527001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4545381
property_value: exactMatch Orphanet:168947

[Term]
id: MONDO:0015690
name: myeloid neoplasm associated with PDGFRB rearrangement
def: "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." [Orphanet:168950]
subset: ordo_disease {source="Orphanet:168950"}
synonym: "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" RELATED [Orphanet:168950]
xref: ICD10:D47.1 {source="Orphanet:168950", source="ORDO:168950/ntbt"}
xref: Orphanet:168950 {source="MONDO:equivalentTo"}
xref: SCTID:724642009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015688 {source="Orphanet:168950"} ! myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
property_value: exactMatch http://identifiers.org/snomedct/724642009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3472621
property_value: exactMatch Orphanet:168950

[Term]
id: MONDO:0015691
name: hypereosinophilic syndrome
def: "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." [Orphanet:168956]
subset: ordo_group_of_disorders {source="Orphanet:168956"}
synonym: "eosinophilia" RELATED [DOID:999]
synonym: "eosinophilic leukocytosis" EXACT [DOID:999, MTHICD9_2006:288.3]
synonym: "HES" EXACT [Orphanet:168956]
synonym: "hypereosinophilic disease" EXACT []
synonym: "hypereosinophilic disorder" EXACT []
synonym: "hypereosinophilic syndrome" EXACT [MONDO:0004945, NCIT:C27038]
xref: DOID:999 {source="MONDO:equivalentTo"}
xref: EFO:1001467 {source="MONDO:equivalentTo"}
xref: GARD:0002804 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D47.5 {source="Orphanet:168956", source="ORDO:168956/e"}
xref: ICD10:D72.1 {source="DOID:999"}
xref: ICD9:288.3 {source="DOID:999"}
xref: ICDO:9964/3 {source="NCIT:C27038"}
xref: MedDRA:10048643 {source="Orphanet:168956", source="ORDO:168956/e"}
xref: MESH:D017681 {source="DOID:999", source="MONDO:equivalentTo", source="Orphanet:168956", source="ORDO:168956/e"}
xref: NCIT:C27038 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.16"}
xref: Orphanet:168956 {source="MONDO:equivalentTo"}
xref: SCTID:419455006 {source="MONDO:equivalentTo"}
xref: UMLS:C1540912 {source="MONDO:equivalentTo", source="NCIT:C27038", source="Orphanet:168956", source="ORDO:168956/e"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDOLEX:0015691", source="NCIT:C27038"} ! syndromic disease
is_a: MONDO:0016345 {source="Orphanet:168956"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0044972 {source="linkedlifedata"} ! eosinophil disease
relationship: disease_has_feature MONDO:0020076 {source="Orphanet:168956"} ! myeloproliferative neoplasm
property_value: closeMatch http://identifiers.org/mesh/D004802
property_value: closeMatch http://identifiers.org/snomedct/165524009
property_value: closeMatch http://identifiers.org/snomedct/191363000
property_value: closeMatch http://identifiers.org/snomedct/27955006
property_value: closeMatch http://identifiers.org/snomedct/418928000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014457
property_value: exactMatch DOID:999
property_value: exactMatch http://identifiers.org/meddra/10048643
property_value: exactMatch http://identifiers.org/mesh/D017681
property_value: exactMatch http://identifiers.org/snomedct/419455006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1540912
property_value: exactMatch NCIT:C27038
property_value: exactMatch Orphanet:168956

[Term]
id: MONDO:0015692
name: refractory anemia with excess blasts in transformation
def: "Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." [NCIT:C27080]
subset: ordo_disease {source="Orphanet:168960"}
synonym: "RAEB-t" EXACT [Orphanet:168960]
xref: ICD10:D46.3 {source="Orphanet:168960", source="ORDO:168960/ntbt"}
xref: ICD9:238.73 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9984/3 {source="NCIT:C27080"}
xref: MedDRA:10038271 {source="ORDO:168960/e", source="Orphanet:168960"}
xref: NCIT:C27080 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:168960 {source="MONDO:equivalentTo"}
xref: SCTID:110000005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
xref: UMLS:C0280028 {source="ORDO:168960/e", source="Orphanet:168960", source="MONDO:equivalentTo", source="NCIT:C27080"}
xref: UMLS:CN200189 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004111 ! refractory hematologic cancer
is_a: MONDO:0018881 {source="Orphanet:168960", source="linkedlifedata"} ! myelodysplastic syndrome
property_value: exactMatch http://identifiers.org/meddra/10038271
property_value: exactMatch http://identifiers.org/snomedct/110000005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280028
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200189
property_value: exactMatch NCIT:C27080
property_value: exactMatch Orphanet:168960

[Term]
id: MONDO:0015693
name: obsolete composite lymphoma
is_obsolete: true
replaced_by: MONDO:0005710

[Term]
id: MONDO:0015694
name: malignant melanoma of the mucosa
def: "A melanoma (disease) that involves the mucosa." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:168999"}
synonym: "melanoma (disease) of mucosa" EXACT []
synonym: "mucosa melanoma" EXACT []
synonym: "mucosa melanoma (disease)" EXACT [MONDO:patterns/location]
xref: GARD:0012649 {source="MONDO:equivalentTo"}
xref: Orphanet:168999 {source="MONDO:equivalentTo"}
xref: UMLS:CN200193 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005105 ! melanoma (disease)
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:168999"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200193
property_value: exactMatch Orphanet:168999

[Term]
id: MONDO:0015695
name: combined immunodeficiency due to CRAC channel dysfunction
def: "deficiency (see these terms)." [Orphanet:169090]
subset: ordo_disease {source="Orphanet:169090"}
synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [Orphanet:169090]
xref: ICD10:D81.8 {source="Orphanet:169090", source="ORDO:169090/attributed", source="ORDO:169090/ntbt"}
xref: Orphanet:169090 {source="MONDO:equivalentTo"}
xref: SCTID:717811007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.55"}
is_a: MONDO:0018035 {source="Orphanet:169090"} ! syndrome with combined immunodeficiency
is_a: MONDO:0021016 ! channelopathy
property_value: exactMatch http://identifiers.org/snomedct/717811007
property_value: exactMatch Orphanet:169090

[Term]
id: MONDO:0015696
name: Good syndrome
def: "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections." [Orphanet:169105]
subset: ordo_disease {source="Orphanet:169105"}
synonym: "immunodeficiency with thymoma" RELATED [GARD:0008622]
synonym: "thymoma with hypogammaglobulinemia" EXACT [DOID:0060028]
synonym: "thymoma-immunodeficiency" EXACT []
synonym: "thymoma-immunodeficiency syndrome" EXACT [Orphanet:169105]
xref: DOID:0060028 {source="MONDO:equivalentTo"}
xref: GARD:0008622 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:169105 {source="MONDO:equivalentTo"}
xref: SCTID:9893005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.42"}
xref: UMLS:C0221027 {source="ORDO:169105/e", source="Orphanet:169105", source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="DOID:0060028"} ! agammaglobulinemia
is_a: MONDO:0017769 {source="Orphanet:169105"} ! acquired immunodeficiency
property_value: exactMatch DOID:0060028
property_value: exactMatch http://identifiers.org/snomedct/9893005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221027
property_value: exactMatch Orphanet:169105

[Term]
id: MONDO:0015697
name: immunoglobulin heavy chain deficiency
subset: ordo_disease {source="Orphanet:169110"}
xref: ICD10:D80.8 {source="ORDO:169110/attributed", source="ORDO:169110/ntbt", source="Orphanet:169110"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:169110 {source="MONDO:equivalentTo"}
xref: SCTID:234539005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0398692 {source="MONDO:equivalentTo", source="ORDO:169110/e", source="Orphanet:169110"}
is_a: MONDO:0018038 {source="Orphanet:169110"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
property_value: exactMatch http://identifiers.org/snomedct/234539005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398692
property_value: exactMatch Orphanet:169110

[Term]
id: MONDO:0015698
name: transient hypogammaglobulinemia of infancy
def: "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." [NCIT:P378]
subset: ordo_disease {source="Orphanet:169139"}
synonym: "THI" EXACT [NCIT:C27071]
synonym: "transient hypogammaglobulinemia of infancy" EXACT [DOID:624, NCIT:C27071]
xref: DOID:624 {source="MONDO:equivalentTo"}
xref: ICD10:D80.7 {source="ORDO:169139/specific", source="DOID:624", source="Orphanet:169139", source="ORDO:169139/e", source="MONDO:equivalentTo"}
xref: ICD9:279.09 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044388 {source="Orphanet:169139", source="ORDO:169139/e"}
xref: NCIT:C27071 {source="DOID:624", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:169139 {source="MONDO:equivalentTo"}
xref: SCTID:88714009 {source="DOID:624", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272238 {source="DOID:624", source="Orphanet:169139", source="ORDO:169139/e", source="MONDO:equivalentTo", source="NCIT:C27071"}
is_a: MONDO:0003827 {source="DOID:624", source="MONDOLEX:0015698", source="NCIT:C27071"} ! transient hypogammaglobulinemia
property_value: exactMatch DOID:624
property_value: exactMatch http://identifiers.org/meddra/10044388
property_value: exactMatch http://identifiers.org/snomedct/88714009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272238
property_value: exactMatch NCIT:C27071
property_value: exactMatch Orphanet:169139

[Term]
id: MONDO:0015699
name: immunodeficiency due to a classical component pathway complement deficiency
subset: clingen
subset: ordo_disease {source="Orphanet:169147"}
synonym: "immunodeficiency due to a C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147]
synonym: "immunodeficiency due to an early component of complement deficiency" EXACT [Orphanet:169147]
synonym: "immunodeficiency due to C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147]
xref: ICD10:D84.1 {source="Orphanet:169147", source="ORDO:169147/attributed", source="ORDO:169147/ntbt"}
xref: Orphanet:169147 {source="MONDO:equivalentTo"}
is_a: MONDO:0003832 {source="MONDOLEX:0015699", source="Orphanet:169147"} ! complement deficiency
property_value: exactMatch Orphanet:169147

[Term]
id: MONDO:0015700
name: immunodeficiency due to a late component of complement deficiency
def: "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." [https://orcid.org/0000-0001-5208-3432, PMID:20930072]
subset: ordo_disease {source="Orphanet:169150"}
synonym: "deficiency of complement of terminal pathway" EXACT [Orphanet:169150]
synonym: "immunodeficiency due to a C5 to C9 component complement deficiency" EXACT [Orphanet:169150]
synonym: "immunodeficiency due to C5 to C9 component complement deficiency" EXACT [Orphanet:169150]
synonym: "terminal complement pathway deficiency" EXACT [Orphanet:169150]
xref: ICD10:D84.1 {source="ORDO:169150/attributed", source="ORDO:169150/ntbt", source="Orphanet:169150"}
xref: Orphanet:169150 {source="MONDO:equivalentTo"}
is_a: MONDO:0003832 {source="MONDO:Redundant", source="MONDOLEX:0015700", source="Orphanet:169150"} ! complement deficiency
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: exactMatch Orphanet:169150

[Term]
id: MONDO:0015701
name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
alt_id: MONDO:0000575
def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." [DOID:0060015, http://bioinf.uta.fi/IL7Rbase/]
subset: ordo_disease {source="Orphanet:169154"}
synonym: "IL-7R" EXACT [DOID:0060015]
synonym: "IL-7Ralpha deficiency" EXACT []
synonym: "interleukin-7 receptor alpha deficiency" RELATED [DOID:0060015]
synonym: "T-B+ SCID due to IL-7Ralpha deficiency" EXACT [Orphanet:169154]
xref: DOID:0060015 {source="MONDO:equivalentTo"}
xref: ICD10:D81.2 {source="ORDO:169154/attributed", source="ORDO:169154/ntbt", source="Orphanet:169154"}
xref: Orphanet:169154 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0044200 {source="MONDOLEX:0015701", source="Orphanet:169154"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch DOID:0060015
property_value: exactMatch Orphanet:169154

[Term]
id: MONDO:0015702
name: T-B+ severe combined immunodeficiency due to CD45 deficiency
subset: ordo_disease {source="Orphanet:169157"}
synonym: "CD45 deficiency" EXACT [MONDO:0000574]
synonym: "T-B+ SCID due to CD45 deficiency" EXACT [Orphanet:169157]
xref: DOID:0060014 {source="MONDO:equivalentTo"}
xref: ICD10:D81.2 {source="Orphanet:169157", source="ORDO:169157/attributed", source="ORDO:169157/ntbt"}
xref: Orphanet:169157 {source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="MONDOLEX:0015702", source="Orphanet:169157"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch DOID:0060014
property_value: exactMatch Orphanet:169157

[Term]
id: MONDO:0015703
name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
subset: clingen
subset: ordo_disease {source="Orphanet:169160"}
synonym: "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta" EXACT [Orphanet:169160]
xref: ICD10:D81.2 {source="ORDO:169160/attributed", source="ORDO:169160/ntbt", source="Orphanet:169160"}
xref: Orphanet:169160 {source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="MONDOLEX:0015703", source="Orphanet:169160"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch Orphanet:169160

[Term]
id: MONDO:0015704
name: familial scaphocephaly syndrome
subset: ordo_group_of_disorders {source="Orphanet:169163"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="ORDO:169163/attributed", source="ORDO:169163/ntbt", source="Orphanet:169163"}
xref: MedDRA:10072229 {source="ORDO:169163/e", source="Orphanet:169163"}
xref: Orphanet:169163 {source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:169163"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/meddra/10072229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267076
property_value: exactMatch Orphanet:169163

[Term]
id: MONDO:0015705
name: autosomal recessive centronuclear myopathy
def: "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169186]
subset: ordo_disease {source="Orphanet:169186"}
synonym: "AR-CNM" EXACT [Orphanet:169186]
synonym: "centronuclear myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:0012718 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="Orphanet:169186", source="ORDO:169186/attributed", source="ORDO:169186/ntbt"}
xref: Orphanet:169186 {source="MONDO:equivalentTo"}
xref: SCTID:240081004 {source="MONDO:kboom-pr-0.89/0.75/0.37", source="MONDO:equivalentTo"}
xref: UMLS:C3645536 {source="MONDO:equivalentTo", source="Orphanet:169186"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018947 {source="MONDO:Redundant", source="Orphanet:169186", source="linkedlifedata"} ! centronuclear myopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
property_value: exactMatch http://identifiers.org/snomedct/240081004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3645536
property_value: exactMatch Orphanet:169186

[Term]
id: MONDO:0015706
name: mosaic trisomy 1
subset: ordo_malformation_syndrome {source="Orphanet:1692"}
synonym: "Mosaic trisomy chromosome 1" EXACT [Orphanet:1692]
synonym: "Mosaic trisomy type 1" EXACT [MONDORULE:1, Orphanet:1692]
synonym: "trisomy 1 mosaicism" EXACT [Orphanet:1692]
xref: ICD10:Q92.1 {source="Orphanet:1692", source="ORDO:1692/attributed", source="ORDO:1692/ntbt"}
xref: Orphanet:1692 {source="MONDO:equivalentTo"}
xref: UMLS:CN073987 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020051 {source="Orphanet:1692"} ! total autosomal trisomy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073987
property_value: exactMatch Orphanet:1692

[Term]
id: MONDO:0015707
name: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
subset: ordo_group_of_disorders {source="Orphanet:169346"}
xref: Orphanet:169346 {source="MONDO:equivalentTo"}
is_a: MONDO:0018035 {source="Orphanet:169346"} ! syndrome with combined immunodeficiency
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021190 ! DNA repair disease
property_value: exactMatch Orphanet:169346

[Term]
id: MONDO:0015708
name: immuno-osseous dysplasia
subset: ordo_group_of_disorders {source="Orphanet:169349"}
xref: Orphanet:169349 {source="MONDO:equivalentTo"}
xref: SCTID:254067002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0018035 {source="Orphanet:169349"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://identifiers.org/snomedct/254067002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432218
property_value: exactMatch Orphanet:169349

[Term]
id: MONDO:0015709
name: immunodeficiency syndrome with autoimmunity
subset: ordo_group_of_disorders {source="Orphanet:169355"}
xref: Orphanet:169355 {source="MONDO:equivalentTo"}
xref: UMLS:CN200213 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015710 {source="Orphanet:169355"} ! immune dysregulation disease with immunodeficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200213
property_value: exactMatch Orphanet:169355

[Term]
id: MONDO:0015710
name: immune dysregulation disease with immunodeficiency
subset: ordo_group_of_disorders {source="Orphanet:169361"}
xref: Orphanet:169361 {source="MONDO:equivalentTo"}
xref: UMLS:CN200214 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015823 {source="Orphanet:169361"} ! primary immunodeficiency due to a defect in adaptive immunity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200214
property_value: exactMatch Orphanet:169361

[Term]
id: MONDO:0015711
name: specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
subset: ordo_group_of_disorders {source="Orphanet:169443"}
xref: ICD10:D80.6 {source="Orphanet:169443", source="ORDO:169443/e", source="ORDO:169443/specific"}
xref: Orphanet:169443 {source="MONDO:equivalentTo"}
is_a: MONDO:0015132 {source="Orphanet:169443"} ! immunodeficiency predominantly affecting antibody production
property_value: exactMatch Orphanet:169443

[Term]
id: MONDO:0015712
name: non-distal trisomy 10q
def: "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." [Orphanet:1695]
subset: ordo_malformation_syndrome {source="Orphanet:1695"}
synonym: "non-distal duplication 10q" EXACT [Orphanet:1695]
synonym: "non-distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:1695]
synonym: "non-telomeric trisomy 10q" EXACT [Orphanet:1695]
xref: ICD10:Q92.3 {source="Orphanet:1695", source="ORDO:1695/attributed", source="ORDO:1695/ntbt"}
xref: Orphanet:1695 {source="MONDO:equivalentTo"}
is_a: MONDO:0016961 {source="Orphanet:1695"} ! partial duplication of the long arm of chromosome 10
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1695"} ! chromosomal anomaly with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936831
property_value: exactMatch Orphanet:1695

[Term]
id: MONDO:0015713
name: idiopathic central precocious puberty
subset: ordo_etiological_subtype {source="Orphanet:169615"}
xref: ICD10:E22.8 {source="ORDO:169615/attributed", source="ORDO:169615/ntbt", source="Orphanet:169615"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:169615 {source="MONDO:equivalentTo"}
xref: SCTID:237817008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342544 {source="MONDO:equivalentTo", source="ORDO:169615/e", source="Orphanet:169615"}
is_a: MONDO:0019165 {source="MONDOLEX:0015713", source="Orphanet:169615", source="linkedlifedata"} ! central precocious puberty
relationship: excluded_subClassOf MONDO:0015513 {source="Orphanet:169615"} ! obsolete rare genetic endocrine disease
relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:169615"} ! anomaly of puberty or/and menstrual cycle of genetic origin
property_value: exactMatch http://identifiers.org/snomedct/237817008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342544
property_value: exactMatch Orphanet:169615

[Term]
id: MONDO:0015714
name: secondary central precocious puberty
subset: ordo_etiological_subtype {source="Orphanet:169618"}
xref: ICD10:E22.8 {source="ORDO:169618/ntbt", source="Orphanet:169618"}
xref: Orphanet:169618 {source="MONDO:equivalentTo"}
xref: UMLS:CN200226 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="MONDOLEX:0015714", source="Orphanet:169618"} ! central precocious puberty
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200226
property_value: exactMatch Orphanet:169618

[Term]
id: MONDO:0015715
name: severe hemophilia B
def: "Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169793]
subset: ordo_clinical_subtype {source="Orphanet:169793"}
synonym: "severe factor IX deficiency" EXACT [Orphanet:169793]
synonym: "severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169793]
xref: ICD10:D67 {source="ORDO:169793/attributed", source="ORDO:169793/ntbt", source="Orphanet:169793"}
xref: Orphanet:169793 {source="MONDO:equivalentTo"}
xref: UMLS:CN200227 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010604 {source="MONDOLEX:0015715", source="Orphanet:169793"} ! hemophilia B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200227
property_value: exactMatch Orphanet:169793

[Term]
id: MONDO:0015716
name: moderately severe hemophilia B
def: "Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169796]
subset: ordo_clinical_subtype {source="Orphanet:169796"}
synonym: "moderately severe factor IX deficiency" EXACT [Orphanet:169796]
synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169796]
xref: ICD10:D67 {source="Orphanet:169796", source="ORDO:169796/attributed", source="ORDO:169796/ntbt"}
xref: Orphanet:169796 {source="MONDO:equivalentTo"}
xref: UMLS:CN200228 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010604 {source="MONDOLEX:0015716", source="Orphanet:169796"} ! hemophilia B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200228
property_value: exactMatch Orphanet:169796

[Term]
id: MONDO:0015717
name: mild hemophilia B
def: "Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169799]
subset: ordo_clinical_subtype {source="Orphanet:169799"}
synonym: "mild factor IX deficiency" EXACT [Orphanet:169799]
synonym: "mild hemophilia type B" EXACT [MONDORULE:1, Orphanet:169799]
xref: ICD10:D67 {source="Orphanet:169799", source="ORDO:169799/attributed", source="ORDO:169799/ntbt"}
xref: Orphanet:169799 {source="MONDO:equivalentTo"}
xref: UMLS:CN200229 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010604 {source="MONDOLEX:0015717", source="Orphanet:169799"} ! hemophilia B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200229
property_value: exactMatch Orphanet:169799

[Term]
id: MONDO:0015718
name: mosaic trisomy 12
def: "Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported." [Orphanet:1698]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1698"}
synonym: "Mosaic trisomy chromosome 12" EXACT [Orphanet:1698]
synonym: "Mosaic trisomy type 12" EXACT [MONDORULE:2, Orphanet:1698]
synonym: "trisomy 12 mosaicism" EXACT [Orphanet:1698]
xref: GARD:0005304 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="ORDO:1698/attributed", source="ORDO:1698/ntbt", source="Orphanet:1698"}
xref: Orphanet:1698 {source="MONDO:equivalentTo"}
xref: SCTID:764463001 {source="MONDO:equivalentTo"}
xref: UMLS:CN073989 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020051 {source="Orphanet:1698"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/snomedct/764463001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073989
property_value: exactMatch Orphanet:1698

[Term]
id: MONDO:0015719
name: severe hemophilia A
def: "Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169802]
subset: ordo_clinical_subtype {source="Orphanet:169802"}
synonym: "severe factor VIII deficiency" EXACT [Orphanet:169802]
synonym: "severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169802]
xref: ICD10:D66 {source="ORDO:169802/attributed", source="ORDO:169802/ntbt", source="Orphanet:169802"}
xref: Orphanet:169802 {source="MONDO:equivalentTo"}
xref: SCTID:16872008 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0272322 {source="MONDO:equivalentTo", source="ORDO:169802/e", source="Orphanet:169802"}
is_a: MONDO:0010602 {source="MONDOLEX:0015719", source="Orphanet:169802", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A
property_value: exactMatch http://identifiers.org/snomedct/16872008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272322
property_value: exactMatch Orphanet:169802

[Term]
id: MONDO:0015720
name: moderately severe hemophilia A
def: "Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169805]
subset: ordo_clinical_subtype {source="Orphanet:169805"}
synonym: "moderately severe factor VIII deficiency" EXACT [Orphanet:169805]
synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169805]
xref: ICD10:D66 {source="ORDO:169805/attributed", source="ORDO:169805/ntbt", source="Orphanet:169805"}
xref: Orphanet:169805 {source="MONDO:equivalentTo"}
xref: UMLS:CN200231 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010602 {source="MONDOLEX:0015720", source="Orphanet:169805"} ! hemophilia A
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200231
property_value: exactMatch Orphanet:169805

[Term]
id: MONDO:0015721
name: mild hemophilia A
def: "Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169808]
subset: ordo_clinical_subtype {source="Orphanet:169808"}
synonym: "mild factor VIII deficiency" EXACT [Orphanet:169808]
synonym: "mild hemophilia type A" EXACT [MONDORULE:1, Orphanet:169808]
xref: ICD10:D66 {source="ORDO:169808/attributed", source="ORDO:169808/ntbt", source="Orphanet:169808"}
xref: Orphanet:169808 {source="MONDO:equivalentTo"}
xref: SCTID:26029002 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0272324 {source="MONDO:equivalentTo", source="ORDO:169808/e", source="Orphanet:169808"}
is_a: MONDO:0010602 {source="MONDOLEX:0015721", source="Orphanet:169808", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A
property_value: exactMatch http://identifiers.org/snomedct/26029002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272324
property_value: exactMatch Orphanet:169808

[Term]
id: MONDO:0015722
name: congenital vitamin K-dependent coagulation factors deficiency
def: "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." [MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:169826"}
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [DC:0000684, OMIMPS:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of" EXACT [OMIMPS:277450]
xref: DC:0000684 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="ORDO:169826/attributed", source="ORDO:169826/ntbt", source="Orphanet:169826"}
xref: OMIMPS:277450 {source="MONDO:equivalentTo", source="DC:0000684"}
xref: Orphanet:169826 {source="MONDO:equivalentTo"}
is_a: MONDO:0019039 {source="Orphanet:169826"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch Orphanet:169826

[Term]
id: MONDO:0015723
name: trisomy 12p
def: "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." [Orphanet:1699]
subset: ordo_malformation_syndrome {source="Orphanet:1699"}
synonym: "12p duplication" RELATED [GARD:0005305]
synonym: "12p trisomy" RELATED [GARD:0005305]
synonym: "chromosome 12p duplication" RELATED [GARD:0005305]
synonym: "Duplication 12p" EXACT [Orphanet:1699]
synonym: "partial trisomy 12p" RELATED [GARD:0005305]
synonym: "trisomy type 12p" EXACT [MONDORULE:4, Orphanet:1699]
xref: GARD:0005305 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.3 {source="ORDO:1699/attributed", source="ORDO:1699/ntbt", source="Orphanet:1699"}
xref: MESH:C538299 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1699 {source="MONDO:equivalentTo"}
xref: UMLS:C0795845 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1699"}
is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016933 {source="Orphanet:1699"} ! partial trisomy/tetrasomy of the short arm of chromosome 12
property_value: exactMatch http://identifiers.org/mesh/C538299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795845
property_value: exactMatch Orphanet:1699

[Term]
id: MONDO:0015724
name: non-distal trisomy 13q
def: "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." [Orphanet:1702]
subset: ordo_malformation_syndrome {source="Orphanet:1702"}
synonym: "non-distal duplication 13q" EXACT [Orphanet:1702]
synonym: "non-distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:1702]
synonym: "non-telomeric trisomy 13q" EXACT [Orphanet:1702]
xref: ICD10:Q92.3 {source="ORDO:1702/attributed", source="ORDO:1702/ntbt", source="Orphanet:1702"}
xref: Orphanet:1702 {source="MONDO:equivalentTo"}
xref: SCTID:764996009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016963 {source="Orphanet:1702"} ! partial duplication of the long arm of chromosome 13
property_value: exactMatch http://identifiers.org/snomedct/764996009
property_value: exactMatch Orphanet:1702

[Term]
id: MONDO:0015725
name: mosaic trisomy 14
def: "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." [https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14]
subset: gard_rare {source="GARD:0001327"}
subset: ordo_malformation_syndrome {source="Orphanet:1703"}
synonym: "Mosaic trisomy chromosome 14" RELATED [GARD:0001327]
synonym: "Mosaic trisomy type 14" EXACT [MONDORULE:2, Orphanet:1703]
synonym: "trisomy 14 mosaicism" RELATED [GARD:0001327]
xref: GARD:0001327 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="ORDO:1703/attributed", source="ORDO:1703/ntbt", source="Orphanet:1703"}
xref: MESH:C535489 {source="MONDO:equivalentTo", source="Orphanet:1703", source="MONDO:ontobio", source="ORDO:1703/e"}
xref: NCIT:C116319 {source="MONDO:equivalentTo"}
xref: Orphanet:1703 {source="MONDO:equivalentTo"}
xref: SCTID:764466009 {source="MONDO:equivalentTo"}
xref: UMLS:C2930917 {source="MONDO:equivalentTo", source="Orphanet:1703", source="ORDO:1703/e"}
is_a: MONDO:0020051 {source="Orphanet:1703"} ! total autosomal trisomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795851
property_value: exactMatch http://identifiers.org/mesh/C535489
property_value: exactMatch http://identifiers.org/snomedct/764466009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930917
property_value: exactMatch NCIT:C116319
property_value: exactMatch Orphanet:1703
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14 xsd:anyURI {source="GARD:0001327"}

[Term]
id: MONDO:0015726
name: distal trisomy 14q
subset: ordo_malformation_syndrome {source="Orphanet:1705"}
synonym: "distal duplication 14q" EXACT [Orphanet:1705]
synonym: "distal trisomy type 14q" EXACT [MONDORULE:4, Orphanet:1705]
synonym: "telomeric duplication 14q" EXACT [Orphanet:1705]
synonym: "trisomy 14qter" EXACT [Orphanet:1705]
xref: ICD10:Q92.3 {source="Orphanet:1705", source="ORDO:1705/attributed", source="ORDO:1705/ntbt"}
xref: MESH:C538034 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1705", source="ORDO:1705/e"}
xref: Orphanet:1705 {source="MONDO:equivalentTo"}
xref: UMLS:CN036934 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015218 {source="Orphanet:1705"} ! syndromic developmental defect of the eye
is_a: MONDO:0016964 {source="Orphanet:1705"} ! partial duplication of the long arm of chromosome 14
is_a: MONDO:0020165 {source="Orphanet:1705"} ! syndromic epicanthus
property_value: exactMatch http://identifiers.org/mesh/C538034
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931702
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036934
property_value: exactMatch Orphanet:1705

[Term]
id: MONDO:0015727
name: mosaic trisomy 15
def: "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." [Orphanet:1706]
subset: ordo_malformation_syndrome {source="Orphanet:1706"}
synonym: "chromosome 15, trisomy mosaicism" RELATED [GARD:0005313]
synonym: "Mosaic trisomy chromosome 15" EXACT [Orphanet:1706]
synonym: "Mosaic trisomy type 15" EXACT [MONDORULE:2, Orphanet:1706]
synonym: "trisomy 15 mosaicism" EXACT [Orphanet:1706]
xref: GARD:0005313 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.1 {source="ORDO:1706/attributed", source="ORDO:1706/ntbt", source="Orphanet:1706"}
xref: MESH:C538037 {source="MONDO:equivalentTo", source="ORDO:1706/e", source="Orphanet:1706"}
xref: Orphanet:1706 {source="MONDO:equivalentTo"}
xref: SCTID:764619001 {source="MONDO:equivalentTo"}
xref: UMLS:CN035788 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:1706"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C538037
property_value: exactMatch http://identifiers.org/snomedct/764619001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035788
property_value: exactMatch Orphanet:1706

[Term]
id: MONDO:0015728
name: distal trisomy 15q
subset: ordo_etiological_subtype {source="Orphanet:1707"}
synonym: "distal duplication 15q" EXACT [Orphanet:1707]
synonym: "distal trisomy type 15q" EXACT [MONDORULE:4, Orphanet:1707]
synonym: "telomeric duplication 15q" EXACT [Orphanet:1707]
synonym: "trisomy 15qter" EXACT [Orphanet:1707]
xref: ICD10:Q92.3 {source="ORDO:1707/attributed", source="ORDO:1707/ntbt", source="Orphanet:1707"}
xref: MESH:C538036 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1707", source="ORDO:1707/e"}
xref: Orphanet:1707 {source="MONDO:equivalentTo"}
is_a: MONDO:0017806 {source="Orphanet:1707"} ! 15q overgrowth syndrome
property_value: exactMatch http://identifiers.org/mesh/C538036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931705
property_value: exactMatch Orphanet:1707

[Term]
id: MONDO:0015729
name: mosaic trisomy 16
def: "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." [Orphanet:1708]
subset: ordo_malformation_syndrome {source="Orphanet:1708"}
synonym: "Mosaic trisomy chromosome 16" EXACT [Orphanet:1708]
synonym: "Mosaic trisomy type 16" EXACT [MONDORULE:2, Orphanet:1708]
synonym: "trisomy 16 mosaicism" EXACT [Orphanet:1708]
xref: ICD10:Q92.1 {source="Orphanet:1708", source="ORDO:1708/attributed", source="ORDO:1708/ntbt"}
xref: MESH:C538041 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1708 {source="MONDO:equivalentTo"}
xref: SCTID:764621006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:1708"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C538041
property_value: exactMatch http://identifiers.org/snomedct/764621006
property_value: exactMatch Orphanet:1708

[Term]
id: MONDO:0015730
name: mosaic trisomy 17
def: "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." [Orphanet:1711]
subset: ordo_malformation_syndrome {source="Orphanet:1711"}
synonym: "chromosome 17 duplication" RELATED [GARD:0005317]
synonym: "chromosome 17 trisomy" RELATED [GARD:0005317]
synonym: "chromosome 17, trisomy" RELATED [GARD:0005317]
synonym: "chromosome 17, trisomy mosaicism" RELATED [GARD:0005317]
synonym: "Mosaic trisomy chromosome 17" EXACT [Orphanet:1711]
synonym: "Mosaic trisomy type 17" EXACT [MONDORULE:2, Orphanet:1711]
synonym: "trisomy 17" RELATED [GARD:0005317]
synonym: "trisomy 17 mosaicism" EXACT [Orphanet:1711]
xref: GARD:0005317 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.1 {source="ORDO:1711/attributed", source="ORDO:1711/ntbt", source="Orphanet:1711"}
xref: MESH:C538044 {source="MONDO:equivalentTo"}
xref: NCIT:C37865 {source="MONDO:equivalentTo"}
xref: Orphanet:1711 {source="MONDO:equivalentTo"}
xref: SCTID:764622004 {source="MONDO:equivalentTo"}
xref: UMLS:C1096168 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:1711"}
is_a: MONDO:0020051 {source="Orphanet:1711"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C538044
property_value: exactMatch http://identifiers.org/snomedct/764622004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096168
property_value: exactMatch NCIT:C37865
property_value: exactMatch Orphanet:1711

[Term]
id: MONDO:0015731
name: high anorectal malformation
def: "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." [Orphanet:171201]
subset: ordo_clinical_subtype {source="Orphanet:171201"}
xref: ICD10:Q42.0 {source="ORDO:171201/attributed", source="ORDO:171201/ntbt", source="Orphanet:171201"}
xref: ICD10:Q42.1 {source="ORDO:171201/attributed", source="ORDO:171201/ntbt", source="Orphanet:171201"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:171201 {source="MONDO:equivalentTo"}
xref: SCTID:253771003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018916 {source="Orphanet:171201"} ! isolated anorectal malformation
property_value: exactMatch http://identifiers.org/snomedct/253771003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345210
property_value: exactMatch Orphanet:171201

[Term]
id: MONDO:0015732
name: intermediate anorectal malformation
def: "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." [Orphanet:171208]
subset: ordo_clinical_subtype {source="Orphanet:171208"}
xref: ICD10:Q42.0 {source="Orphanet:171208", source="ORDO:171208/attributed", source="ORDO:171208/ntbt"}
xref: ICD10:Q42.1 {source="Orphanet:171208", source="ORDO:171208/attributed", source="ORDO:171208/ntbt"}
xref: Orphanet:171208 {source="MONDO:equivalentTo"}
xref: SCTID:734024009 {source="MONDO:equivalentTo"}
is_a: MONDO:0018916 {source="Orphanet:171208"} ! isolated anorectal malformation
property_value: exactMatch http://identifiers.org/snomedct/734024009
property_value: exactMatch Orphanet:171208

[Term]
id: MONDO:0015733
name: low anorectal malformation
def: "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation." [Orphanet:171215]
subset: ordo_clinical_subtype {source="Orphanet:171215"}
xref: ICD10:Q42.2 {source="ORDO:171215/specific", source="Orphanet:171215", source="ORDO:171215/btnt"}
xref: ICD10:Q42.3 {source="ORDO:171215/specific", source="Orphanet:171215", source="ORDO:171215/btnt"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98975 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:171215 {source="MONDO:equivalentTo"}
xref: SCTID:253772005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345218 {source="MONDO:equivalentTo", source="Orphanet:171215", source="ORDO:171215/e", source="NCIT:C98975"}
is_a: MONDO:0018916 {source="Orphanet:171215"} ! isolated anorectal malformation
property_value: exactMatch http://identifiers.org/snomedct/253772005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345218
property_value: exactMatch NCIT:C98975
property_value: exactMatch Orphanet:171215

[Term]
id: MONDO:0015734
name: rectal duplication
def: "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum." [Orphanet:171220]
subset: ordo_morphological_anomaly {source="Orphanet:171220"}
xref: ICD10:Q43.4 {source="ORDO:171220/attributed", source="ORDO:171220/ntbt", source="Orphanet:171220"}
xref: Orphanet:171220 {source="MONDO:equivalentTo"}
xref: SCTID:725910009 {source="MONDO:equivalentTo"}
is_a: MONDO:0019938 {source="Orphanet:171220"} ! anorectal malformation
property_value: exactMatch http://identifiers.org/snomedct/725910009
property_value: exactMatch Orphanet:171220

[Term]
id: MONDO:0015735
name: severe congenital nemaline myopathy
def: "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates." [Orphanet:171430]
subset: clingen
subset: gard_rare {source="GARD:0012821"}
subset: ordo_disease {source="Orphanet:171430"}
synonym: "severe congenital (neonatal) NM" RELATED [GARD:0012821]
xref: GARD:0012821 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:171430/attributed", source="ORDO:171430/ntbt", source="Orphanet:171430"}
xref: Orphanet:171430 {source="MONDO:equivalentTo"}
is_a: MONDO:0016193 {source="Orphanet:171430"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171430"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0018701 {source="Orphanet:171430"} ! congenital nemaline myopathy
is_a: MONDO:0018958 {source="Orphanet:171430"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:171430
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy xsd:anyURI {source="GARD:0012821"}

[Term]
id: MONDO:0015736
name: intermediate nemaline myopathy
def: "Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression." [Orphanet:171433]
subset: ordo_disease {source="Orphanet:171433"}
synonym: "Intermediate congenital nemaline myopathy" RELATED [GARD:0012823]
synonym: "Intermediate congenital NM" RELATED [GARD:0012823]
xref: GARD:0012823 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="ORDO:171433/attributed", source="ORDO:171433/ntbt", source="Orphanet:171433"}
xref: Orphanet:171433 {source="MONDO:equivalentTo"}
is_a: MONDO:0016193 {source="Orphanet:171433"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171433"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171433"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0018701 {source="Orphanet:171433"} ! congenital nemaline myopathy
is_a: MONDO:0018958 {source="Orphanet:171433"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:171433

[Term]
id: MONDO:0015737
name: typical nemaline myopathy
def: "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement." [Orphanet:171436]
subset: ordo_disease {source="Orphanet:171436"}
synonym: "typical congenital nemaline myopathy" RELATED [GARD:0012822]
xref: GARD:0012822 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="ORDO:171436/attributed", source="ORDO:171436/ntbt", source="Orphanet:171436"}
xref: Orphanet:171436 {source="MONDO:equivalentTo"}
is_a: MONDO:0016193 {source="Orphanet:171436"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171436"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171436"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0018701 {source="Orphanet:171436"} ! congenital nemaline myopathy
is_a: MONDO:0018958 {source="Orphanet:171436"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:171436

[Term]
id: MONDO:0015738
name: childhood-onset nemaline myopathy
def: "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." [Orphanet:171439]
subset: gard_rare {source="GARD:0007171"}
subset: ordo_disease {source="Orphanet:171439"}
synonym: "mild nemaline myopathy" EXACT [Orphanet:171439]
xref: GARD:0007171 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:171439", source="ORDO:171439/attributed", source="ORDO:171439/ntbt"}
xref: Orphanet:171439 {source="MONDO:equivalentTo"}
is_a: MONDO:0016193 {source="Orphanet:171439"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171439"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171439"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0018958 {source="Orphanet:171439"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546125
property_value: exactMatch Orphanet:171439
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy xsd:anyURI {source="GARD:0007171"}

[Term]
id: MONDO:0015739
name: adult-onset nemaline myopathy
def: "adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." [Orphanet:171442]
subset: gard_rare {source="GARD:0012824"}
subset: ordo_disease {source="Orphanet:171442"}
xref: GARD:0012824 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:171442/attributed", source="ORDO:171442/ntbt", source="Orphanet:171442"}
xref: Orphanet:171442 {source="MONDO:equivalentTo"}
xref: UMLS:C0546123 {source="MONDO:equivalentTo", source="Orphanet:171442", source="ORDO:171442/e"}
is_a: MONDO:0016193 {source="Orphanet:171442"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171442"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0018958 {source="Orphanet:171442"} ! nemaline myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546123
property_value: exactMatch Orphanet:171442
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy xsd:anyURI {source="GARD:0012824"}

[Term]
id: MONDO:0015740
name: trisomy 18p
def: "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." [Orphanet:1715]
subset: ordo_malformation_syndrome {source="Orphanet:1715"}
synonym: "18p duplication" RELATED [GARD:0005323]
synonym: "18p trisomy" RELATED [GARD:0005323]
synonym: "chromosome 18p duplication" RELATED [GARD:0005323]
synonym: "Duplication 18p" EXACT [Orphanet:1715]
synonym: "Duplication of the short arm of chromosome 18" EXACT [Orphanet:1715]
synonym: "partial trisomy 18p" RELATED [GARD:0005323]
synonym: "trisomy of the short arm of chromosome 18" EXACT [Orphanet:1715]
synonym: "trisomy type 18p" EXACT [MONDORULE:4, Orphanet:1715]
xref: GARD:0005323 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="ORDO:1715/attributed", source="ORDO:1715/ntbt", source="Orphanet:1715"}
xref: MESH:C538307 {source="MONDO:equivalentTo", source="ORDO:1715/e", source="MONDO:ontobio", source="Orphanet:1715"}
xref: Orphanet:1715 {source="MONDO:equivalentTo"}
is_a: MONDO:0016951 {source="Orphanet:1715"} ! partial trisomy/tetrasomy of the short arm of chromosome 18
property_value: exactMatch http://identifiers.org/mesh/C538307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931811
property_value: exactMatch Orphanet:1715

[Term]
id: MONDO:0015741
name: distal trisomy 18q
subset: ordo_malformation_syndrome {source="Orphanet:1716"}
synonym: "distal duplication 18q" EXACT [Orphanet:1716]
synonym: "distal trisomy type 18q" EXACT [MONDORULE:4, Orphanet:1716]
synonym: "telomeric duplication 18q" EXACT [Orphanet:1716]
synonym: "trisomy 18qter" EXACT [Orphanet:1716]
xref: ICD10:Q92.3 {source="Orphanet:1716", source="ORDO:1716/attributed", source="ORDO:1716/ntbt"}
xref: Orphanet:1716 {source="MONDO:equivalentTo"}
is_a: MONDO:0016968 {source="Orphanet:1716"} ! partial trisomy of the long arm of chromosome 18
property_value: exactMatch Orphanet:1716

[Term]
id: MONDO:0015742
name: periventricular leukomalacia
def: "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy , delayed mental development, coordination problems, and vision and hearing impairments.There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." [https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia]
subset: gard_rare {source="GARD:0010285"}
subset: ordo_disease {source="Orphanet:171676"}
synonym: "PVL" RELATED [GARD:0010285]
xref: COHD:372435 {source="MONDO:equivalentTo"}
xref: DOID:13088 {source="EFO:1001101", source="MONDO:equivalentTo"}
xref: EFO:1001101 {source="MONDO:equivalentTo"}
xref: GARD:0010285 {source="MONDO:equivalentTo"}
xref: ICD10:P91.2 {source="DOID:13088"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:779.7 {source="MONDO:equivalentTo", source="DOID:13088", source="i2s"}
xref: MedDRA:10052594 {source="EFO:1001101", source="ORDO:171676/e", source="Orphanet:171676"}
xref: MESH:D007969 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="ORDO:171676/e", source="MONDO:ontobio", source="Orphanet:171676"}
xref: NCIT:C99013 {source="EFO:1001101", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:13088"}
xref: Orphanet:171676 {source="MONDO:equivalentTo"}
xref: SCTID:230769007 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023529 {source="MONDO:equivalentTo", source="DOID:13088", source="NCIT:C99013", source="ORDO:171676/e", source="Orphanet:171676"}
is_a: MONDO:0006741 {source="DOID:13088", source="MESH:D007969", source="NCIT:C99013"} ! encephalomalacia
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch DOID:13088
property_value: exactMatch http://identifiers.org/meddra/10052594
property_value: exactMatch http://identifiers.org/mesh/D007969
property_value: exactMatch http://identifiers.org/snomedct/230769007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023529
property_value: exactMatch NCIT:C99013
property_value: exactMatch Orphanet:171676
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia xsd:anyURI {source="GARD:0010285"}

[Term]
id: MONDO:0015743
name: idiopathic bilateral vestibulopathy
def: "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." [Orphanet:171684]
subset: ordo_disease {source="Orphanet:171684"}
xref: ICD10:H81.8 {source="ORDO:171684/ntbt", source="Orphanet:171684"}
xref: Orphanet:171684 {source="MONDO:equivalentTo"}
xref: SCTID:737580004 {source="MONDO:equivalentTo"}
xref: UMLS:C4545229 {source="MONDO:equivalentTo"}
is_a: MONDO:0024623 {source="Orphanet:171684"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/737580004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4545229
property_value: exactMatch Orphanet:171684

[Term]
id: MONDO:0015744
name: distal trisomy 19q
def: "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." [Orphanet:1717]
subset: ordo_malformation_syndrome {source="Orphanet:1717"}
synonym: "distal duplication 19q" EXACT [Orphanet:1717]
synonym: "distal trisomy type 19q" EXACT [MONDORULE:4, Orphanet:1717]
synonym: "telomeric duplication 19q" EXACT [Orphanet:1717]
synonym: "trisomy 19qter" EXACT [Orphanet:1717]
xref: ICD10:Q92.3 {source="ORDO:1717/attributed", source="ORDO:1717/ntbt", source="Orphanet:1717"}
xref: Orphanet:1717 {source="MONDO:equivalentTo"}
xref: SCTID:766052008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016969 {source="MONDOLEX:0015744", source="Orphanet:1717"} ! partial duplication of the long arm of chromosome 19
property_value: exactMatch http://identifiers.org/snomedct/766052008
property_value: exactMatch Orphanet:1717

[Term]
id: MONDO:0015745
name: microcephaly-polymicrogyria-corpus callosum agenesis syndrome
def: "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." [Orphanet:171703]
subset: ordo_malformation_syndrome {source="Orphanet:171703"}
xref: ICD10:Q04.3 {source="Orphanet:171703", source="ORDO:171703/attributed", source="ORDO:171703/ntbt"}
xref: Orphanet:171703 {source="MONDO:equivalentTo"}
xref: UMLS:CN200295 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:171703"} ! syndromic intellectual disability
is_a: MONDO:0017122 {source="Orphanet:171703"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200295
property_value: exactMatch Orphanet:171703

[Term]
id: MONDO:0015746
name: male infertility due to globozoospermia
def: "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." [Orphanet:171709]
subset: ordo_clinical_subtype {source="Orphanet:171709"}
synonym: "globozoospermia" RELATED [DOID:0111156]
synonym: "male infertility due to globozoospermia" EXACT [DOID:0111156]
synonym: "Male infertility due to round-headed spermatozoa" EXACT [Orphanet:171709]
synonym: "male infertility due to round-headed spermatozoa" EXACT [DOID:0111156, GARD:0012502]
synonym: "round-headed sperm syndrome" EXACT [Orphanet:171709]
xref: DOID:0111156 {source="MONDO:equivalentTo"}
xref: GARD:0012502 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:171709/attributed", source="ORDO:171709/ntbt", source="Orphanet:171709"}
xref: Orphanet:171709 {source="MONDO:equivalentTo", source="DOID:0111156"}
is_a: MONDO:0018394 {source="Orphanet:171709"} ! male infertility with teratozoospermia due to single gene mutation
property_value: exactMatch DOID:0111156
property_value: exactMatch Orphanet:171709

[Term]
id: MONDO:0015747
name: obsolete Amish infantile epilepsy syndrome
is_obsolete: true
replaced_by: MONDO:0012189

[Term]
id: MONDO:0015748
name: hereditary mucosal leukokeratosis
def: "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." [Orphanet:171723]
subset: ordo_disease {source="Orphanet:171723"}
synonym: "hereditary mucosal leukokeratosis" EXACT [Orphanet:171723]
synonym: "white sponge nevus" EXACT [DOID:0050448]
synonym: "White sponge nevus of Cannon" EXACT [Orphanet:171723]
synonym: "white sponge nevus of Cannon" EXACT [DOID:0050448]
xref: DOID:0050448 {source="MONDO:equivalentTo"}
xref: GARD:0008501 {source="MONDO:equivalentTo"}
xref: ICD10:Q38.6 {source="ORDO:171723/index", source="ORDO:171723/ntbt", source="Orphanet:171723"}
xref: ICD9:528.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D053529 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: NCIT:C84760 {source="MONDO:kboom-pr-0.91/0.79/0.41", source="MONDO:equivalentTo", source="DOID:0050448"}
xref: OMIMPS:193900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:171723 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: SCTID:389203001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.90", source="DOID:0050448"}
xref: UMLS:C1721005 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0050448", source="NCIT:C84760", source="Orphanet:171723"}
is_a: MONDO:0005073 {source="Orphanet:171723"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:171723", source="indirect"} ! inherited skin tumor
property_value: closeMatch http://identifiers.org/snomedct/62953009
property_value: closeMatch http://identifiers.org/snomedct/85388002
property_value: exactMatch DOID:0050448
property_value: exactMatch http://identifiers.org/mesh/D053529
property_value: exactMatch http://identifiers.org/snomedct/389203001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1721005
property_value: exactMatch NCIT:C84760
property_value: exactMatch Orphanet:171723

[Term]
id: MONDO:0015749
name: 6q16 deletion syndrome
def: "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." [Orphanet:171829]
subset: ordo_clinical_subtype {source="Orphanet:171829"}
synonym: "Del(6)(q16)" EXACT [Orphanet:171829]
synonym: "monosomy 6q16" EXACT [Orphanet:171829]
synonym: "Prader-Willi-like syndrome due to deletion 6q16" EXACT [Orphanet:171829]
xref: ICD10:Q93.5 {source="ORDO:171829/attributed", source="ORDO:171829/ntbt", source="Orphanet:171829"}
xref: Orphanet:171829 {source="MONDO:equivalentTo"}
xref: UMLS:CN200301 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016905 {source="MONDOLEX:0015749", source="Orphanet:171829"} ! partial deletion of the long arm of chromosome 6
is_a: MONDO:0018354 {source="Orphanet:171829"} ! Prader-Willi-like syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200301
property_value: exactMatch Orphanet:171829

[Term]
id: MONDO:0015750
name: amelogenesis imperfecta-gingival hyperplasia syndrome
def: "This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption." [Orphanet:171836]
subset: ordo_disease {source="Orphanet:171836"}
xref: ICD10:K00.5 {source="Orphanet:171836", source="ORDO:171836/attributed", source="ORDO:171836/ntbt"}
xref: Orphanet:171836 {source="MONDO:equivalentTo"}
xref: UMLS:CN200302 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015603 {source="Orphanet:171836"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:171836"} ! rare genetic odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/omim/614253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200302
property_value: exactMatch Orphanet:171836

[Term]
id: MONDO:0015751
name: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
def: "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." [Orphanet:171839]
subset: ordo_malformation_syndrome {source="Orphanet:171839"}
synonym: "Berant syndrome" EXACT [Orphanet:171839]
synonym: "Capra-DeMarco syndrome" EXACT [Orphanet:171839]
synonym: "familial scaphocephaly-radioulnar synostosis syndrome" EXACT [Orphanet:171839]
xref: ICD10:Q87.8 {source="Orphanet:171839", source="ORDO:171839/attributed", source="ORDO:171839/ntbt"}
xref: Orphanet:171839 {source="MONDO:equivalentTo"}
xref: SCTID:720815000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.01"}
xref: UMLS:C3267187 {source="Orphanet:171839", source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:171839"} ! syndromic craniosynostosis
is_a: MONDO:0017120 {source="Orphanet:171839"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/720815000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267187
property_value: exactMatch Orphanet:171839

[Term]
id: MONDO:0015752
name: intellectual disability-cataracts-kyphosis syndrome
def: "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." [Orphanet:171860]
subset: ordo_disease {source="Orphanet:171860"}
xref: Orphanet:171860 {source="MONDO:equivalentTo"}
xref: UMLS:CN226733 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:171860"} ! syndromic intellectual disability
is_a: MONDO:0020225 {source="Orphanet:171860"} ! syndromic cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226733
property_value: exactMatch Orphanet:171860

[Term]
id: MONDO:0015753
name: cap myopathy
def: "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." [Orphanet:171881]
subset: gard_rare {source="GARD:0011915"}
subset: ordo_disease {source="Orphanet:171881"}
synonym: "Cap disease" EXACT [Orphanet:171881]
synonym: "congenital myopathy with caps" RELATED [GARD:0011915]
xref: GARD:0011915 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:171881/attributed", source="ORDO:171881/ntbt", source="Orphanet:171881"}
xref: MESH:C579969 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:171881 {source="MONDO:equivalentTo"}
xref: SCTID:703532002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
xref: UMLS:C3710589 {source="MONDO:equivalentTo", source="Orphanet:171881"}
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
property_value: exactMatch http://identifiers.org/mesh/C579969
property_value: exactMatch http://identifiers.org/snomedct/703532002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3710589
property_value: exactMatch Orphanet:171881
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy xsd:anyURI {source="GARD:0011915"}

[Term]
id: MONDO:0015754
name: obsolete cylindrical spirals myopathy
is_obsolete: true
replaced_by: MONDO:0008058

[Term]
id: MONDO:0015755
name: myopathy with hexagonally cross-linked tubular arrays
def: "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." [Orphanet:171889]
subset: ordo_disease {source="Orphanet:171889"}
xref: ICD10:G71.2 {source="Orphanet:171889", source="ORDO:171889/attributed", source="ORDO:171889/ntbt"}
xref: Orphanet:171889 {source="MONDO:equivalentTo"}
xref: SCTID:764994007 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:171889"} ! congenital myopathy
property_value: exactMatch http://identifiers.org/snomedct/764994007
property_value: exactMatch Orphanet:171889

[Term]
id: MONDO:0015756
name: myeloid hemopathy
subset: ordo_group_of_disorders {source="Orphanet:171895"}
xref: Orphanet:171895 {source="MONDO:equivalentTo"}
is_a: MONDO:0019044 {source="Orphanet:171895"} ! tumor of hematopoietic and lymphoid tissues
property_value: exactMatch Orphanet:171895

[Term]
id: MONDO:0015757
name: lymphoid hemopathy
subset: ordo_group_of_disorders {source="Orphanet:171898"}
xref: Orphanet:171898 {source="MONDO:equivalentTo"}
is_a: MONDO:0019044 {source="Orphanet:171898"} ! tumor of hematopoietic and lymphoid tissues
property_value: exactMatch Orphanet:171898

[Term]
id: MONDO:0015758
name: primary cutaneous T-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:171901"}
xref: GARD:0006226 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C84.8 {source="Orphanet:171901", source="ORDO:171901/ntbt"}
xref: MedDRA:10011677 {source="Orphanet:171901", source="ORDO:171901/e"}
xref: Orphanet:171901 {source="MONDO:equivalentTo"}
is_a: MONDO:0015760 {source="MONDOLEX:0015758", source="Orphanet:171901"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0018898 {source="Orphanet:171901"} ! primary cutaneous lymphoma
property_value: exactMatch http://identifiers.org/meddra/10011677
property_value: exactMatch http://identifiers.org/mesh/D016410
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079773
property_value: exactMatch Orphanet:171901

[Term]
id: MONDO:0015759
name: B-cell non-Hodgkin lymphoma
def: "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" [NCIT:C3457]
subset: ordo_group_of_disorders {source="Orphanet:171915"}
synonym: "B-cell lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell NHL" EXACT [Orphanet:171915]
synonym: "B-cell non Hodgkin's lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell non-Hodgkin lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3457]
synonym: "lymphomas non-Hodgkin's B-cell" EXACT [NCIT:C3457]
synonym: "non-Hodgkin's B-cell lymphoma" EXACT [NCIT:C3457]
synonym: "non-Hodgkin's lymphoma B-cell" EXACT [NCIT:C3457]
xref: NCIT:C3457 {source="MONDO:equivalentTo", source="kboom:pr0.86-conf12.42"}
xref: Orphanet:171915 {source="MONDO:equivalentTo"}
is_a: MONDO:0004095 {source="MONDO:Redundant", source="NCIT:C3457"} ! B-cell neoplasm
is_a: MONDO:0018908 {source="MONDO:Redundant", source="MONDOLEX:0015759", source="NCIT:C3457", source="Orphanet:171915"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0004095 {source="NCIT:C3457"} ! B-cell neoplasm
intersection_of: MONDO:0018908 {source="NCIT:C3457"} ! non-Hodgkin lymphoma
property_value: exactMatch NCIT:C3457
property_value: exactMatch Orphanet:171915

[Term]
id: MONDO:0015760
name: T-cell non-Hodgkin lymphoma
def: "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003" [NCIT:C3466]
subset: ordo_group_of_disorders {source="Orphanet:171918"}
synonym: "non-Hodgkin's T-cell lymphoma" EXACT [NCIT:C3466]
synonym: "T cell lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell NHL" EXACT [Orphanet:171918]
synonym: "T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466]
xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10042971 {source="Orphanet:171918", source="ORDO:171918/e"}
xref: MESH:D016399 {source="MONDO:equivalentTo"}
xref: NCIT:C3466 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:171918 {source="MONDO:equivalentTo"}
xref: SCTID:109978004 {source="MONDO:kboom-pr-1.00/0.80/9.19", source="MONDO:equivalentTo"}
xref: UMLS:C0079772 {source="MONDO:equivalentTo", source="Orphanet:171918", source="ORDO:171918/e", source="NCIT:C3466"}
is_a: MONDO:0018908 {source="MESH:D016399", source="MONDOLEX:0015760", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/meddra/10042971
property_value: exactMatch http://identifiers.org/mesh/D016399
property_value: exactMatch http://identifiers.org/snomedct/109978004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079772
property_value: exactMatch NCIT:C3466
property_value: exactMatch Orphanet:171918

[Term]
id: MONDO:0015761
name: trisomy 10p
def: "Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10." [Orphanet:171929]
subset: ordo_malformation_syndrome {source="Orphanet:171929"}
synonym: "10p duplication" RELATED [GARD:0005299]
synonym: "10p trisomy" RELATED [GARD:0005299]
synonym: "chromosome 10p duplication" RELATED [GARD:0005299]
synonym: "Duplication 10p" RELATED [GARD:0005299]
synonym: "partial trisomy 10p" RELATED [GARD:0005299]
synonym: "trisomy type 10p" EXACT [MONDORULE:4, Orphanet:171929]
xref: GARD:0005299 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="ORDO:171929/attributed", source="ORDO:171929/ntbt", source="Orphanet:171929"}
xref: MESH:C538290 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:171929 {source="MONDO:equivalentTo"}
xref: SCTID:717157006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4082793 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016947 {source="Orphanet:171929"} ! partial duplication of the short arm of chromosome 10
property_value: exactMatch http://identifiers.org/mesh/C538290
property_value: exactMatch http://identifiers.org/snomedct/717157006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082793
property_value: exactMatch Orphanet:171929

[Term]
id: MONDO:0015762
name: progressive familial intrahepatic cholestasis
def: "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." [Orphanet:172]
subset: ordo_disease {source="Orphanet:172"}
synonym: "cholestasis, progressive familial intrahepatic" EXACT [OMIMPS:211600]
synonym: "PFIC" EXACT [Orphanet:172]
xref: DOID:0070221 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="ORDO:172/attributed", source="ORDO:172/ntbt", source="Orphanet:172"}
xref: NCIT:C84453 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:211600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:172 {source="MONDO:equivalentTo"}
xref: UMLS:C0268312 {source="ORDO:172/e", source="MONDO:equivalentTo", source="Orphanet:172", source="NCIT:C84453"}
is_a: MONDO:0002254 {source="NCIT:C84453"} ! syndromic disease
is_a: MONDO:0017290 {source="MONDO:Redundant", source="MONDOLEX:0015762", source="Orphanet:172"} ! familial intrahepatic cholestasis
is_a: MONDO:0017755 {source="Orphanet:172"} ! inborn disorder of bilirubin metabolism
property_value: exactMatch DOID:0070221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268312
property_value: exactMatch NCIT:C84453
property_value: exactMatch Orphanet:172

[Term]
id: MONDO:0015763
name: mosaic trisomy 2
def: "Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported." [Orphanet:1723]
subset: ordo_malformation_syndrome {source="Orphanet:1723"}
synonym: "Mosaic trisomy chromosome 2" EXACT [Orphanet:1723]
synonym: "Mosaic trisomy type 2" EXACT [MONDORULE:1, Orphanet:1723]
synonym: "trisomy 2 mosaicism" EXACT [Orphanet:1723]
xref: GARD:0005331 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.1 {source="ORDO:1723/attributed", source="ORDO:1723/ntbt", source="Orphanet:1723"}
xref: Orphanet:1723 {source="MONDO:equivalentTo"}
xref: SCTID:764623009 {source="MONDO:equivalentTo"}
xref: UMLS:CN073991 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020051 {source="Orphanet:1723"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/snomedct/764623009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073991
property_value: exactMatch Orphanet:1723

[Term]
id: MONDO:0015764
name: mosaic trisomy 20
def: "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." [Orphanet:1724]
subset: ordo_malformation_syndrome {source="Orphanet:1724"}
synonym: "Mosaic trisomy chromosome 20" EXACT [Orphanet:1724]
synonym: "Mosaic trisomy type 20" EXACT [MONDORULE:2, Orphanet:1724]
xref: ICD10:Q92.1 {source="ORDO:1724/attributed", source="ORDO:1724/ntbt", source="Orphanet:1724"}
xref: Orphanet:1724 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:1724"} ! total autosomal trisomy
property_value: exactMatch Orphanet:1724

[Term]
id: MONDO:0015765
name: congenital myopathy with cores
subset: ordo_group_of_disorders {source="Orphanet:172976"}
xref: ICD10:G71.2 {source="ORDO:172976/attributed", source="ORDO:172976/ntbt", source="Orphanet:172976"}
xref: Orphanet:172976 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:172976"} ! congenital myopathy
property_value: exactMatch Orphanet:172976

[Term]
id: MONDO:0015766
name: cholera
def: "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." [Orphanet:173]
subset: gard_rare {source="GARD:0006043"}
subset: ordo_disease {source="Orphanet:173"}
synonym: "cholera - Vibrio cholerae" EXACT [DOID:1498]
synonym: "cholera due to Vibrio cholerae" EXACT [DOID:1498, ICD9CM_2006:001.0]
synonym: "Vibrio cholerae" EXACT [DOID:1498]
synonym: "Vibrio cholerae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio cholerae disease or disorder" EXACT []
synonym: "Vibrio cholerae infection" RELATED [GARD:0006043]
synonym: "Vibrio cholerae infectious disease" EXACT []
xref: COHD:198677 {source="MONDO:equivalentTo"}
xref: DOID:1498 {source="MONDO:equivalentTo"}
xref: GARD:0006043 {source="MONDO:equivalentTo"}
xref: ICD10:A00 {source="DOID:1498", source="MONDO:equivalentTo"}
xref: ICD10:A00.0 {source="DOID:1498", source="ORDO:173/btnt", source="Orphanet:173"}
xref: ICD10:A00.1 {source="ORDO:173/btnt", source="Orphanet:173"}
xref: ICD10:A00.9 {source="DOID:1498", source="ORDO:173/btnt", source="Orphanet:173"}
xref: ICD9:001 {source="DOID:1498"}
xref: ICD9:001.0 {source="DOID:1498", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:001.9 {source="DOID:1498", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008631 {source="ORDO:173/e", source="Orphanet:173"}
xref: MESH:D002771 {source="DOID:1498", source="MONDO:equivalentTo", source="ORDO:173/e", source="Orphanet:173", source="MONDO:ontobio"}
xref: Orphanet:173 {source="MONDO:equivalentTo"}
xref: SCTID:63650001 {source="DOID:1498", source="MONDO:kboom-pr-1.00/0.80/9.70", source="MONDO:equivalentTo"}
xref: UMLS:C0008354 {source="DOID:1498", source="MONDO:equivalentTo", source="ORDO:173/e", source="Orphanet:173"}
is_a: MONDO:0000314 {source="DOID:1498"} ! primary bacterial infectious disease
is_a: MONDO:0007014 ! vibrio infectious disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154269008
property_value: closeMatch http://identifiers.org/snomedct/186087007
property_value: closeMatch http://identifiers.org/snomedct/186088002
property_value: closeMatch http://identifiers.org/snomedct/186089005
property_value: closeMatch http://identifiers.org/snomedct/187267007
property_value: closeMatch http://identifiers.org/snomedct/61972007
property_value: exactMatch DOID:1498
property_value: exactMatch http://identifiers.org/meddra/10008631
property_value: exactMatch http://identifiers.org/mesh/D002771
property_value: exactMatch http://identifiers.org/snomedct/63650001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008354
property_value: exactMatch Orphanet:173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6043/cholera xsd:anyURI {source="GARD:0006043"}

[Term]
id: MONDO:0015767
name: trisomy 4p
def: "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." [Orphanet:1738]
subset: ordo_malformation_syndrome {source="Orphanet:1738"}
synonym: "4p duplication" RELATED [GARD:0006091]
synonym: "4p trisomy" RELATED [GARD:0006091]
synonym: "chromosome 4p duplication" RELATED [GARD:0006091]
synonym: "Duplication 4p" EXACT [Orphanet:1738]
synonym: "Duplication of the short arm of chromosome 4" EXACT [Orphanet:1738]
synonym: "partial trisomy 4p" RELATED [GARD:0006091]
synonym: "trisomy of the short arm of chromosome 4" EXACT [Orphanet:1738]
synonym: "trisomy type 4p" EXACT [MONDORULE:4, Orphanet:1738]
xref: GARD:0006091 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="Orphanet:1738", source="ORDO:1738/attributed", source="ORDO:1738/ntbt"}
xref: MESH:C537643 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1738", source="ORDO:1738/e"}
xref: Orphanet:1738 {source="MONDO:equivalentTo"}
is_a: MONDO:0016941 {source="Orphanet:1738"} ! partial duplication of the short arm of chromosome 4
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931570
property_value: exactMatch http://identifiers.org/mesh/C537643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931571
property_value: exactMatch Orphanet:1738

[Term]
id: MONDO:0015768
name: trisomy 5p
def: "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." [Orphanet:1742]
subset: ordo_malformation_syndrome {source="Orphanet:1742"}
synonym: "5p duplication" RELATED [GARD:0006093]
synonym: "5p trisomy" RELATED [GARD:0006093]
synonym: "chromosome 5p duplication" RELATED [GARD:0006093]
synonym: "Duplication 5p" EXACT [Orphanet:1742]
synonym: "Duplication of the short arm of chromosome 5" EXACT [Orphanet:1742]
synonym: "partial trisomy 5p" RELATED [GARD:0006093]
synonym: "trisomy of the short arm of chromosome 5" EXACT [Orphanet:1742]
synonym: "trisomy type 5p" EXACT [MONDORULE:4, Orphanet:1742]
xref: GARD:0006093 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="ORDO:1742/attributed", source="ORDO:1742/ntbt", source="Orphanet:1742"}
xref: Orphanet:1742 {source="MONDO:equivalentTo"}
is_a: MONDO:0016942 {source="Orphanet:1742"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
is_a: MONDO:0019717 {source="Orphanet:1742"} ! chromosomal disease with overgrowth
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1742"} ! chromosomal anomaly with cataract
property_value: exactMatch Orphanet:1742

[Term]
id: MONDO:0015769
name: distal trisomy 6p
def: "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." [Orphanet:1745]
subset: ordo_malformation_syndrome {source="Orphanet:1745"}
synonym: "distal duplication 6p" EXACT [Orphanet:1745]
synonym: "distal trisomy type 6p" EXACT [MONDORULE:4, Orphanet:1745]
synonym: "telomeric duplication 6p" EXACT [Orphanet:1745]
synonym: "trisomy 6pter" EXACT [Orphanet:1745]
xref: ICD10:Q92.3 {source="ORDO:1745/attributed", source="ORDO:1745/ntbt", source="Orphanet:1745"}
xref: Orphanet:1745 {source="MONDO:equivalentTo"}
xref: SCTID:722430008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C4302551 {source="MONDO:equivalentTo"}
is_a: MONDO:0016943 {source="MONDOLEX:0015769", source="Orphanet:1745"} ! partial duplication of the short arm of chromosome 6
property_value: exactMatch http://identifiers.org/snomedct/722430008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302551
property_value: exactMatch Orphanet:1745

[Term]
id: MONDO:0015770
name: congenital hypogonadotropic hypogonadism
def: "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [Orphanet:174590]
subset: ordo_group_of_disorders {source="Orphanet:174590"}
xref: ICD10:E23.0 {source="Orphanet:174590", source="MONDO:relatedTo", source="ORDO:174590/attributed", source="ORDO:174590/ntbt"}
xref: NCIT:C120162 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:174590 {source="MONDO:equivalentTo"}
xref: SCTID:722944006 {source="MONDO:kboom-pr-1.00/0.91/25.58", source="MONDO:equivalentTo"}
xref: UMLS:C3899503 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C120162"}
is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:174590"} ! anomaly of puberty or/and menstrual cycle of genetic origin
is_a: MONDO:0018405 {source="MONDO:Redundant", source="Orphanet:174590"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
is_a: MONDO:0018555 {source="MONDOLEX:0015770", source="NCIT:C120162", source="linkedlifedata"} ! hypogonadotropic hypogonadism
is_a: MONDO:0019824 {source="Orphanet:174590"} ! non-acquired pituitary hormone deficiency
is_a: MONDO:0021124 ! female infertility
property_value: exactMatch http://identifiers.org/snomedct/722944006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3899503
property_value: exactMatch NCIT:C120162
property_value: exactMatch Orphanet:174590

[Term]
id: MONDO:0015771
name: mosaic trisomy 7
def: "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." [Orphanet:1747]
subset: gard_rare {source="GARD:0005354"}
subset: ordo_malformation_syndrome {source="Orphanet:1747"}
synonym: "Mosaic trisomy chromosome 7" RELATED [GARD:0005354]
synonym: "Mosaic trisomy type 7" EXACT [MONDORULE:1, Orphanet:1747]
synonym: "trisomy 7 mosaicism" RELATED [GARD:0005354]
xref: GARD:0005354 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="ORDO:1747/attributed", source="ORDO:1747/ntbt", source="Orphanet:1747"}
xref: MESH:C537822 {source="MONDO:equivalentTo", source="Orphanet:1747", source="ORDO:1747/e"}
xref: Orphanet:1747 {source="MONDO:equivalentTo"}
xref: SCTID:764630003 {source="MONDO:equivalentTo"}
xref: UMLS:CN036006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:1747"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C537822
property_value: exactMatch http://identifiers.org/snomedct/764630003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931631
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036006
property_value: exactMatch Orphanet:1747
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 xsd:anyURI {source="GARD:0005354"}

[Term]
id: MONDO:0015772
name: trisomy 8q
def: "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size." [Orphanet:1752]
subset: ordo_malformation_syndrome {source="Orphanet:1752"}
synonym: "8q duplication" RELATED [GARD:0005362]
synonym: "8q trisomy" RELATED [GARD:0005362]
synonym: "chromosome 8q duplication" RELATED [GARD:0005362]
synonym: "Duplication 8q" EXACT [Orphanet:1752]
synonym: "partial trisomy 8q" RELATED [GARD:0005362]
synonym: "trisomy type 8q" EXACT [MONDORULE:4, Orphanet:1752]
xref: GARD:0005362 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="Orphanet:1752", source="ORDO:1752/attributed", source="ORDO:1752/ntbt"}
xref: MESH:C538020 {source="Orphanet:1752", source="ORDO:1752/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36428 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: Orphanet:1752 {source="MONDO:equivalentTo"}
xref: UMLS:C0795829 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:1752", source="ORDO:1752/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016959 {source="Orphanet:1752"} ! partial duplication of the long arm of chromosome 8
property_value: exactMatch http://identifiers.org/mesh/C538020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795829
property_value: exactMatch NCIT:C36428
property_value: exactMatch Orphanet:1752

[Term]
id: MONDO:0015773
name: fibular dimelia-diplopodia syndrome
def: "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." [Orphanet:1757]
subset: ordo_malformation_syndrome {source="Orphanet:1757"}
synonym: "leg duplication-mirror foot syndrome" EXACT [Orphanet:1757]
xref: ICD10:Q74.8 {source="ORDO:1757/attributed", source="ORDO:1757/ntbt", source="Orphanet:1757"}
xref: Orphanet:1757 {source="MONDO:equivalentTo"}
xref: SCTID:720953006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:CN200350 {source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:1757"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://identifiers.org/snomedct/720953006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200350
property_value: exactMatch Orphanet:1757

[Term]
id: MONDO:0015774
name: thoraco-abdominal enteric duplication
def: "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." [Orphanet:1759]
subset: gard_rare {source="GARD:0005181"}
subset: ordo_malformation_syndrome {source="Orphanet:1759"}
synonym: "thoraco abdominal enteric duplication" RELATED [GARD:0005181]
xref: GARD:0005181 {source="MONDO:equivalentTo"}
xref: ICD10:Q43.4 {source="ORDO:1759/attributed", source="ORDO:1759/ntbt", source="Orphanet:1759"}
xref: Orphanet:1759 {source="MONDO:equivalentTo"}
xref: SCTID:733628001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015212 {source="Orphanet:1759"} ! syndromic intestinal malformation
property_value: exactMatch http://identifiers.org/snomedct/733628001
property_value: exactMatch Orphanet:1759
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication xsd:anyURI {source="GARD:0005181"}

[Term]
id: MONDO:0015775
name: non-rhizomelic chondrodysplasia punctata
def: "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." [Orphanet:176]
subset: ordo_group_of_disorders {source="Orphanet:176"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:176/attributed", source="ORDO:176/ntbt", source="Orphanet:176"}
xref: Orphanet:176 {source="MONDO:equivalentTo"}
is_a: MONDO:0019701 {source="Orphanet:176"} ! chondrodysplasia punctata
property_value: exactMatch Orphanet:176

[Term]
id: MONDO:0015776
name: rhizomelic chondrodysplasia punctata
def: "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth." [Orphanet:177]
subset: gard_rare {source="GARD:0013160"}
subset: ordo_disease {source="Orphanet:177"}
synonym: "chondrodysplasia punctata, rhizomelic form" EXACT [DOID:2580]
synonym: "RCDP" EXACT [Orphanet:177]
synonym: "rhizomelic chondrodysplasia punctata syndrome" EXACT [NCIT:C85047]
synonym: "rhizomelic dwarfism" EXACT [NCIT:C85047]
xref: DOID:2580 {source="MONDO:equivalentTo"}
xref: GARD:0013160 {source="MONDO:equivalentTo"}
xref: ICD10:E71.540 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:177/attributed", source="ORDO:177/ntbt", source="Orphanet:177"}
xref: MESH:D018902 {source="MONDO:equivalentTo", source="ORDO:177/e", source="Orphanet:177", source="DOID:2580"}
xref: NCIT:C85047 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2580"}
xref: OMIMPS:215100 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: Orphanet:177 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: SCTID:56692003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36", source="DOID:2580"}
xref: UMLS:C0282529 {source="MONDO:equivalentTo", source="ORDO:177/e", source="Orphanet:177", source="NCIT:C85047", source="DOID:2580"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0016398 {source="Orphanet:177"} ! peroxisomal disease with epilepsy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017986 {source="Orphanet:177"} ! disorder of plasmalogens biosynthesis
is_a: MONDO:0019058 {source="Orphanet:177"} ! neurometabolic disease
is_a: MONDO:0019701 {source="DOID:2580", source="MESH:D018902", source="NCIT:C85047", source="Orphanet:177"} ! chondrodysplasia punctata
is_a: MONDO:0020232 {source="Orphanet:177"} ! musculoskeletal disease with cataract
is_a: MONDO:0020280 {source="Orphanet:177"} ! metabolic disease with cataract
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:2580
property_value: exactMatch http://identifiers.org/mesh/D018902
property_value: exactMatch http://identifiers.org/snomedct/56692003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282529
property_value: exactMatch NCIT:C85047
property_value: exactMatch Orphanet:177
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata xsd:anyURI {source="GARD:0013160"}

[Term]
id: MONDO:0015777
name: adult hypothyroidism
def: "A hypothyroidism that occurs in an adult." [MONDO:patterns/adult]
subset: ordo_group_of_disorders {source="Orphanet:177101"}
synonym: "rare adult hypothyroidism" EXACT DEPRECATED [Orphanet:177101]
xref: Orphanet:177101 {source="MONDO:equivalentTo"}
xref: UMLS:CN226738 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005420 {source="Orphanet:177101"} ! hypothyroidism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015893"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226738
property_value: exactMatch Orphanet:177101
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015778
name: syndromic hypothyroidism
def: "A hypothyroidism that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:177107"}
synonym: "syndrome associated with hypothyroidism" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with hypothyroidism" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic hypothyroidism" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:177107 {source="MONDO:equivalentTo"}
xref: UMLS:CN226739 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0016408 {source="Orphanet:177107"} ! permanent congenital hypothyroidism
intersection_of: MONDO:0005420 ! hypothyroidism
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226739
property_value: exactMatch Orphanet:177107

[Term]
id: MONDO:0015779
name: 45,X/46,XY mixed gonadal dysgenesis
def: "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." [Orphanet:1772]
subset: ordo_malformation_syndrome {source="Orphanet:1772"}
synonym: "45,X/46,XY disorder of Sex development" EXACT [NCIT:C120199]
synonym: "45,X/46,XY gonadal dysgenesis" EXACT [NCIT:C120199]
synonym: "45,X/46,XY MGD" EXACT [Orphanet:1772]
synonym: "45,X0/46,XY MGD" EXACT [Orphanet:1772]
synonym: "45,X0/46,XY mixed gonadal dysgenesis" EXACT [Orphanet:1772]
synonym: "Mixed gonadal dysgenesis" EXACT [NCIT:C120199]
synonym: "XY/X0" EXACT []
xref: ICD10:Q98.7 {source="Orphanet:1772", source="ORDO:1772/attributed", source="ORDO:1772/ntbt"}
xref: NCIT:C120199 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.21"}
xref: Orphanet:1772 {source="MONDO:equivalentTo"}
is_a: MONDO:0001967 {source="NCIT:C120199"} ! gonadal dysgenesis
is_a: MONDO:0017005 {source="Orphanet:1772"} ! Y chromosome number anomaly
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017975 {source="Orphanet:1772"} ! sex chromosome disorder of sex development
is_a: MONDO:0018402 ! female infertility due to gonadal dysgenesis
is_a: MONDO:0020038 {source="Orphanet:1772"} ! gonadal dysgenesis of gynecological interest
is_a: MONDO:0020090 {source="Orphanet:1772"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch NCIT:C120199
property_value: exactMatch Orphanet:1772

[Term]
id: MONDO:0015780
name: dyskeratosis congenita
def: "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." [Orphanet:1775]
comment: Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:1775"}
synonym: "DC" EXACT [Orphanet:1775]
synonym: "DKC" EXACT [Orphanet:1775]
synonym: "DKC" RELATED [GARD:0010905]
synonym: "Hoyeraal-Hreidarsson syndrome" RELATED [GARD:0010905]
synonym: "Zinsser Cole Engman syndrome" RELATED [GARD:0002007]
synonym: "Zinsser-Engman-Cole syndrome" EXACT [Orphanet:1775]
synonym: "Zinsser-Engman-Cole syndrome" RELATED [GARD:0010905]
xref: DOID:2729 {source="MONDO:equivalentTo"}
xref: GARD:0010905 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:1775/index", source="ORDO:1775/ntbt", source="Orphanet:1775"}
xref: MedDRA:10062759 {source="ORDO:1775/e", source="Orphanet:1775"}
xref: MESH:D019871 {source="ORDO:1775/e", source="MONDO:equivalentTo", source="Orphanet:1775", source="DOID:2729"}
xref: NCIT:C111802 {source="MONDO:equivalentTo", source="DOID:2729"}
xref: OMIMPS:127550 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1775 {source="GARD:0010905", source="MONDO:equivalentTo", source="GARD:0002007", source="DOID:2729"}
xref: SCTID:74911008 {source="MONDO:equivalentTo", source="DOID:2729"}
xref: UMLS:C0265965 {source="NCIT:C111802", source="ORDO:1775/e", source="MONDO:equivalentTo", source="Orphanet:1775", source="DOID:2729"}
is_a: MONDO:0015356 {source="Orphanet:1775"} ! hereditary neoplastic syndrome
is_a: MONDO:0019287 {source="Orphanet:1775"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:1775"} ! inherited aplastic anemia
relationship: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C111802/inferred"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:1775"} ! hereditary poikiloderma
relationship: excluded_subClassOf MONDO:0018035 {source="Orphanet:1775"} ! syndrome with combined immunodeficiency
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:1775"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0020063 {source="Orphanet:1775"} ! malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1775"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020195 {source="Orphanet:1775"} ! excretory apparatus of the lacrimal system anomaly
relationship: excluded_subClassOf MONDO:0020204 {source="Orphanet:1775"} ! conjunctival tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1148551
property_value: exactMatch DOID:2729
property_value: exactMatch http://identifiers.org/meddra/10062759
property_value: exactMatch http://identifiers.org/mesh/D019871
property_value: exactMatch http://identifiers.org/snomedct/74911008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265965
property_value: exactMatch NCIT:C111802
property_value: exactMatch Orphanet:1775
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked xsd:anyURI {source="GARD:0002007"}

[Term]
id: MONDO:0015781
name: facial dysmorphism-shawl scrotum-joint laxity syndrome
def: "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." [Orphanet:1778]
subset: ordo_malformation_syndrome {source="Orphanet:1778"}
synonym: "facial dysmorphism shawl scrotum joint laxity" RELATED [GARD:0004778]
synonym: "hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies" RELATED [GARD:0004778]
synonym: "Seaver Cassidy syndrome" RELATED [GARD:0004778]
synonym: "Seaver-Cassidy syndrome" EXACT [Orphanet:1778]
xref: GARD:0004778 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1778/attributed", source="ORDO:1778/ntbt", source="Orphanet:1778"}
xref: MESH:C537529 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1778 {source="MONDO:equivalentTo"}
xref: SCTID:716337006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:C2931522 {source="MONDO:equivalentTo", source="Orphanet:1778"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1778", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1778"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537529
property_value: exactMatch http://identifiers.org/snomedct/716337006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931522
property_value: exactMatch Orphanet:1778

[Term]
id: MONDO:0015782
name: dysmorphism-cleft palate-loose skin syndrome
def: "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss." [Orphanet:1779]
subset: ordo_malformation_syndrome {source="Orphanet:1779"}
xref: Orphanet:1779 {source="MONDO:equivalentTo"}
xref: UMLS:CN200364 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:1779"} ! orofacial clefting syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200364
property_value: exactMatch Orphanet:1779

[Term]
id: MONDO:0015783
name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
subset: ordo_etiological_subtype {source="Orphanet:177901"}
xref: ICD10:Q87.1 {source="ORDO:177901/attributed", source="ORDO:177901/ntbt", source="Orphanet:177901"}
xref: Orphanet:177901 {source="MONDO:equivalentTo"}
xref: UMLS:CN200365 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020301 {source="Orphanet:177901"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200365
property_value: exactMatch Orphanet:177901

[Term]
id: MONDO:0015784
name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
subset: ordo_etiological_subtype {source="Orphanet:177904"}
xref: ICD10:Q87.1 {source="ORDO:177904/attributed", source="ORDO:177904/ntbt", source="Orphanet:177904"}
xref: Orphanet:177904 {source="MONDO:equivalentTo"}
xref: UMLS:CN200366 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020301 {source="Orphanet:177904"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200366
property_value: exactMatch Orphanet:177904

[Term]
id: MONDO:0015785
name: Prader-Willi syndrome due to translocation
subset: ordo_etiological_subtype {source="Orphanet:177907"}
xref: ICD10:Q87.1 {source="Orphanet:177907", source="ORDO:177907/attributed", source="ORDO:177907/ntbt"}
xref: Orphanet:177907 {source="MONDO:equivalentTo"}
xref: UMLS:CN200367 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008300 {source="Orphanet:177907"} ! Prader-Willi syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200367
property_value: exactMatch Orphanet:177907

[Term]
id: MONDO:0015786
name: Prader-Willi syndrome due to imprinting mutation
subset: ordo_etiological_subtype {source="Orphanet:177910"}
xref: ICD10:Q87.1 {source="ORDO:177910/attributed", source="ORDO:177910/ntbt", source="Orphanet:177910"}
xref: Orphanet:177910 {source="MONDO:equivalentTo"}
xref: UMLS:CN200368 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008300 {source="Orphanet:177910"} ! Prader-Willi syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200368
property_value: exactMatch Orphanet:177910

[Term]
id: MONDO:0015787
name: symptomatic form of hemophilia A in female carriers
def: "gene (Xq28), encoding coagulation factor VIII." [Orphanet:177926]
subset: ordo_clinical_subtype {source="Orphanet:177926"}
xref: ICD10:D66 {source="ORDO:177926/attributed", source="ORDO:177926/ntbt", source="Orphanet:177926"}
xref: Orphanet:177926 {source="MONDO:equivalentTo"}
xref: UMLS:CN200369 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010602 {source="MONDOLEX:0015787", source="Orphanet:177926"} ! hemophilia A
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200369
property_value: exactMatch Orphanet:177926

[Term]
id: MONDO:0015788
name: symptomatic form of hemophilia B in female carriers
def: "gene (Xq28), encoding coagulation factor IX." [Orphanet:177929]
subset: ordo_clinical_subtype {source="Orphanet:177929"}
xref: ICD10:D67 {source="Orphanet:177929", source="ORDO:177929/attributed", source="ORDO:177929/ntbt"}
xref: Orphanet:177929 {source="MONDO:equivalentTo"}
xref: UMLS:CN200370 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010604 {source="MONDOLEX:0015788", source="Orphanet:177929"} ! hemophilia B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200370
property_value: exactMatch Orphanet:177929

[Term]
id: MONDO:0015789
name: non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
subset: ordo_group_of_disorders {source="Orphanet:178025"}
xref: ICD10:E23.0 {source="Orphanet:178025", source="MONDO:relatedTo", source="ORDO:178025/attributed", source="ORDO:178025/ntbt"}
xref: Orphanet:178025 {source="MONDO:equivalentTo"}
is_a: MONDO:0018762 {source="Orphanet:178025"} ! non-acquired combined pituitary hormone deficiency
property_value: exactMatch Orphanet:178025

[Term]
id: MONDO:0015790
name: central diabetes insipidus
def: "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms)." [Orphanet:178029]
subset: ordo_disease {source="Orphanet:178029"}
synonym: "CDI" EXACT [Orphanet:178029]
synonym: "diabetes insipidus cranial type" RELATED [GARD:0006015]
synonym: "diabetes insipidus neurogenic" RELATED [GARD:0006015]
synonym: "diabetes insipidus neurohypophyseal" RELATED [GARD:0006015]
synonym: "neurogenic diabetes insipidus" EXACT [Orphanet:178029]
xref: GARD:0006015 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0000863 {source="MONDO:otherHierarchy"}
xref: ICD10:E23.2 {source="MONDO:relatedTo", source="ORDO:178029/ntbt", source="Orphanet:178029"}
xref: MedDRA:10068587 {source="Orphanet:178029", source="ORDO:178029/e"}
xref: Orphanet:178029 {source="MONDO:equivalentTo"}
is_a: MONDO:0015127 {source="Orphanet:178029"} ! pituitary deficiency
is_a: MONDO:0100070 {xref="https://orcid.org/0000-0002-2825-0621"} ! neuroendocrine disease
property_value: exactMatch http://identifiers.org/meddra/10068587
property_value: exactMatch http://identifiers.org/mesh/D020790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687720
property_value: exactMatch Orphanet:178029

[Term]
id: MONDO:0015791
name: peripheral precocious puberty
def: "Precocious puberty caused by sex hormones." [https://en.wikipedia.org/wiki/Precocious_puberty#Peripheral, https://www.mayoclinic.org/diseases-conditions/precocious-puberty/symptoms-causes/syc-20351811, MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:178040"}
synonym: "GIPP" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "gonadotropin independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "gonadotropin-independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "precocious pseudopuberty" EXACT [https://en.wikipedia.org/wiki/Precocious_puberty#Peripheral]
xref: ICD10:E30.1 {source="MONDO:subClassOf", source="ORDO:178040/e", source="ORDO:178040/specific", source="Orphanet:178040"}
xref: Orphanet:178040 {source="MONDO:equivalentTo"}
xref: SCTID:736606009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000088 {source="Orphanet:178040"} ! precocious puberty
disjoint_from: MONDO:0019165 ! central precocious puberty
relationship: excluded_subClassOf MONDO:0015514 {source="Orphanet:178040"} ! genetic endocrine growth disease
property_value: exactMatch http://identifiers.org/snomedct/736606009
property_value: exactMatch Orphanet:178040

[Term]
id: MONDO:0015792
name: transient congenital hypothyroidism
def: "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." [NCIT:C113171]
subset: ordo_group_of_disorders {source="Orphanet:178045"}
synonym: "hypothyroxinemia of prematurity" EXACT [NCIT:C113171]
synonym: "THOP" EXACT [NCIT:C113171]
synonym: "transient hypothyroxinemia of prematurity" EXACT [NCIT:C113171]
xref: NCIT:C113171 {source="MONDO:equivalentTo"}
xref: Orphanet:178045 {source="MONDO:equivalentTo"}
xref: SCTID:119181000119104 {source="MONDO:equivalentTo"}
xref: UMLS:C3827793 {source="MONDO:equivalentTo"}
is_a: MONDO:0018612 {source="MONDO:Redundant", source="Orphanet:178045"} ! congenital hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/119181000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3827793
property_value: exactMatch NCIT:C113171
property_value: exactMatch Orphanet:178045

[Term]
id: MONDO:0015793
name: moderate multiminicore disease with hand involvement
subset: ordo_clinical_subtype {source="Orphanet:178145"}
xref: ICD10:G71.2 {source="Orphanet:178145", source="ORDO:178145/attributed", source="ORDO:178145/ntbt"}
xref: Orphanet:178145 {source="MONDO:equivalentTo"}
xref: UMLS:C1861753 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:178145", source="MONDO:equivalentTo"}
is_a: MONDO:0018948 {source="Orphanet:178145"} ! multiminicore myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861753
property_value: exactMatch Orphanet:178145

[Term]
id: MONDO:0015794
name: antenatal multiminicore disease with arthrogryposis multiplex congenita
subset: ordo_clinical_subtype {source="Orphanet:178148"}
synonym: "multicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129]
synonym: "multiminicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129]
xref: GARD:0009129 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:178148", source="ORDO:178148/attributed", source="ORDO:178148/ntbt"}
xref: Orphanet:178148 {source="MONDO:equivalentTo"}
xref: UMLS:C1843691 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:178148", source="MONDO:equivalentTo"}
is_a: MONDO:0018948 {source="Orphanet:178148"} ! multiminicore myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843691
property_value: exactMatch Orphanet:178148

[Term]
id: MONDO:0015795
name: undifferentiated embryonal sarcoma of the liver
def: "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache." [Orphanet:178315]
subset: ordo_disease {source="Orphanet:178315"}
synonym: "embryonal sarcoma of the liver" EXACT [Orphanet:178315]
synonym: "UES" EXACT [Orphanet:178315]
synonym: "undifferentiated sarcoma of the liver" EXACT [Orphanet:178315]
xref: ONCOTREE:UESL {source="MONDO:equivalentTo"}
xref: Orphanet:178315 {source="MONDO:equivalentTo"}
xref: SCTID:716648006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.55"}
is_a: MONDO:0024477 {source="Orphanet:178315"} ! liver and intrahepatic bile duct neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017632"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716648006
property_value: exactMatch Orphanet:178315

[Term]
id: MONDO:0015796
name: acute lung injury
def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371]
subset: ordo_clinical_situation {source="Orphanet:178320"}
xref: EFO:0004610 {source="MONDO:equivalentTo"}
xref: MedDRA:10069351 {source="Orphanet:178320", source="ORDO:178320/e"}
xref: MESH:D055371 {source="Orphanet:178320", source="ORDO:178320/e", source="EFO:0004610", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:178320 {source="MONDO:equivalentTo"}
xref: SCTID:315345002 {source="EFO:0004610", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005275 {source="EFO:0004610", source="MESH:D055371/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
property_value: exactMatch http://identifiers.org/meddra/10069351
property_value: exactMatch http://identifiers.org/mesh/D055371
property_value: exactMatch http://identifiers.org/snomedct/315345002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242488
property_value: exactMatch Orphanet:178320

[Term]
id: MONDO:0015797
name: UV-sensitive syndrome
def: "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population." [http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome]
subset: gard_rare {source="GARD:0010947"}
subset: ordo_disease {source="Orphanet:178338"}
synonym: "UV sensitive syndrome" RELATED [GARD:0010947]
synonym: "UVSS" RELATED [GARD:0010947]
xref: DOID:0060240 {source="MONDO:equivalentTo"}
xref: GARD:0010947 {source="MONDO:equivalentTo"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C563466 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:600630 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:178338 {source="MONDO:equivalentTo", source="DOID:0060240"}
xref: SCTID:698253007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0060240", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0015951 {source="Orphanet:178338"} ! hereditary photodermatosis
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019304 {source="Orphanet:178338"} ! rare photodermatosis
is_a: MONDO:0021190 ! DNA repair disease
property_value: closeMatch http://identifiers.org/mesh/563466
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833561
property_value: exactMatch DOID:0060240
property_value: exactMatch http://identifiers.org/mesh/C563466
property_value: exactMatch http://identifiers.org/snomedct/698253007
property_value: exactMatch Orphanet:178338
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome xsd:anyURI {source="GARD:0010947"}

[Term]
id: MONDO:0015798
name: inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells." [NCIT:P378]
subset: gard_rare {source="GARD:0007146"}
subset: ordo_disease {source="Orphanet:178342"}
synonym: "IMT" EXACT [NCIT:C6481]
synonym: "IMT" RELATED [ONCOTREE:IMT]
synonym: "inflammatory fibrosarcoma" EXACT [GARD:0007146, NCIT:C6481]
synonym: "inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6481]
synonym: "inflammatory myofibroblastic tumor" EXACT [NCIT:C6481]
synonym: "inflammatory pseudotumor" EXACT [GARD:0007146, NCIT:C6481]
xref: DOID:0050905 {source="MONDO:equivalentTo"}
xref: GARD:0007146 {source="MONDO:equivalentTo"}
xref: ICDO:8825/1 {source="NCIT:C6481"}
xref: MedDRA:10067917 {source="Orphanet:178342", source="ORDO:178342/e"}
xref: MESH:D006104 {source="MONDO:equivalentTo"}
xref: NCIT:C6481 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:IMT {source="MONDO:equivalentTo"}
xref: Orphanet:178342 {source="MONDO:equivalentTo"}
xref: UMLS:C0334121 {source="Orphanet:178342", source="ORDO:178342/e", source="MONDO:equivalentTo", source="NCIT:C6481"}
is_a: MONDO:0006424 {source="Orphanet:178342"} ! soft tissue neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: exactMatch DOID:0050905
property_value: exactMatch http://identifiers.org/meddra/10067917
property_value: exactMatch http://identifiers.org/mesh/D006104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334121
property_value: exactMatch NCIT:C6481
property_value: exactMatch Orphanet:178342
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor xsd:anyURI {source="GARD:0007146"}

[Term]
id: MONDO:0015799
name: Smith-McCort dysplasia
def: "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC." [Orphanet:178355]
subset: gard_rare {source="GARD:0010620"}
subset: ordo_disease {source="Orphanet:178355"}
synonym: "Smith McCort dysplasia" RELATED [GARD:0010620]
synonym: "Smith-McCort dwarfism" RELATED [GARD:0010620]
xref: DOID:0060247 {source="MONDO:equivalentTo"}
xref: GARD:0010620 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="Orphanet:178355", source="ORDO:178355/attributed", source="ORDO:178355/ntbt"}
xref: MESH:C564589 {source="MONDO:equivalentTo", source="DOID:0060247", source="MONDO:ontobio"}
xref: OMIMPS:607326 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:178355 {source="MONDO:equivalentTo", source="DOID:0060247"}
xref: SCTID:715862006 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:178355"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846431
property_value: exactMatch DOID:0060247
property_value: exactMatch http://identifiers.org/mesh/C564589
property_value: exactMatch http://identifiers.org/snomedct/715862006
property_value: exactMatch Orphanet:178355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia xsd:anyURI {source="GARD:0010620"}

[Term]
id: MONDO:0015800
name: osteosclerosis-developmental delay-craniosynostosis syndrome
def: "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." [Orphanet:178377]
subset: ordo_malformation_syndrome {source="Orphanet:178377"}
xref: ICD10:Q75.8 {source="Orphanet:178377", source="ORDO:178377/attributed", source="ORDO:178377/ntbt"}
xref: Orphanet:178377 {source="MONDO:equivalentTo"}
xref: SCTID:722117000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:CN200391 {source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:178377"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/snomedct/722117000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200391
property_value: exactMatch Orphanet:178377

[Term]
id: MONDO:0015801
name: hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
subset: ordo_disease {source="Orphanet:178396"}
xref: Orphanet:178396 {source="MONDO:equivalentTo"}
xref: UMLS:CN200394 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019039 {source="Orphanet:178396"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200394
property_value: exactMatch Orphanet:178396

[Term]
id: MONDO:0015802
name: autosomal dominant non-syndromic intellectual disability
def: "Autosomal dominant form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_dominant]
comment: Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries; check placement of OMIMPS, as some of these are syndromic
subset: gard_rare {source="GARD:0012107"}
synonym: "autosomal dominant mental retardation" BROAD [DOID:0060307]
synonym: "autosomal dominant non-syndromic mental retardation" EXACT [DOID:0060307]
synonym: "mental retardation, autosomal dominant" BROAD [OMIMPS:156200]
synonym: "non-syndromic intellectual disability, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0060307 {source="MONDO:equivalentTo"}
xref: GARD:0012107 {source="MONDO:equivalentTo"}
xref: OMIMPS:156200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="MONDO:equivalentTo", source="DOID:0060307"}
xref: UMLS:CN200399 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:178469"} ! non-syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200399
property_value: exactMatch Orphanet:178469
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability xsd:anyURI {source="GARD:0012107"}

[Term]
id: MONDO:0015803
name: wound botulism
def: "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." []
subset: ordo_etiological_subtype {source="Orphanet:178475"}
synonym: "cutaneous infectious botulism" EXACT [Orphanet:178475]
synonym: "cutaneous toxin-mediated botulism" EXACT [Orphanet:178475]
synonym: "inoculation botulism" EXACT [Orphanet:178475]
synonym: "skin infectious botulism" EXACT [Orphanet:178475]
synonym: "skin toxin-mediated botulism" EXACT [Orphanet:178475]
xref: DOID:0050353 {source="MONDO:equivalentTo"}
xref: ICD10:A05.1 {source="Orphanet:178475", source="ORDO:178475/ntbt"}
xref: ICD10:A48.52 {source="MONDO:equivalentTo"}
xref: ICD9:040.42 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C128342 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:178475 {source="MONDO:equivalentTo"}
xref: SCTID:398530003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1306794 {source="ORDO:178475/e", source="NCIT:C128342", source="Orphanet:178475", source="MONDO:equivalentTo"}
is_a: MONDO:0016468 {source="Orphanet:178475"} ! toxin-mediated infectious botulism
property_value: exactMatch DOID:0050353
property_value: exactMatch http://identifiers.org/snomedct/398530003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306794
property_value: exactMatch NCIT:C128342
property_value: exactMatch Orphanet:178475

[Term]
id: MONDO:0015804
name: infant botulism
def: "A botulism that occurs between 28 days to one year of life.." [MONDO:patterns/infantile]
subset: ordo_clinical_subtype {source="Orphanet:178478"}
synonym: "botulism of infancy" EXACT [MONDO:patterns/infantile]
synonym: "infant intestinal botulism" EXACT [Orphanet:178478]
synonym: "infant intestinal toxemia botulism" EXACT [Orphanet:178478]
synonym: "infant intestinal toxin-mediated botulism" EXACT [Orphanet:178478]
synonym: "infantile botulism" EXACT [Orphanet:178478]
synonym: "infantile onset botulism" EXACT [MONDO:patterns/infantile]
xref: DOID:0050354 {source="MONDO:equivalentTo"}
xref: ICD10:A05.1 {source="Orphanet:178478", source="ORDO:178478/ntbt"}
xref: ICD10:A48.51 {source="MONDO:equivalentTo"}
xref: NCIT:C128343 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:178478 {source="MONDO:equivalentTo"}
xref: SCTID:414488002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.31"}
xref: UMLS:C0238027 {source="NCIT:C128343", source="Orphanet:178478", source="ORDO:178478/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015805 {source="Orphanet:178478"} ! intestinal botulism
relationship: disease_has_feature MONDO:0000728 ! ptosis (disease)
property_value: exactMatch DOID:0050354
property_value: exactMatch http://identifiers.org/snomedct/414488002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238027
property_value: exactMatch NCIT:C128343
property_value: exactMatch Orphanet:178478

[Term]
id: MONDO:0015805
name: intestinal botulism
def: "leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism; see this term) and very rarely adults (adult intestinal botulism; see this term)." [Orphanet:178481]
subset: ordo_clinical_subtype {source="Orphanet:178481"}
synonym: "intestinal colonization botulism" EXACT [Orphanet:178481]
synonym: "intestinal toxemia botulism" EXACT [Orphanet:178481]
synonym: "intestinal toxin-mediated botulism" EXACT [Orphanet:178481]
xref: DOID:0050141 {source="MONDO:equivalentTo"}
xref: ICD10:A05.1 {source="Orphanet:178481", source="ORDO:178481/ntbt"}
xref: Orphanet:178481 {source="MONDO:equivalentTo"}
xref: SCTID:409563004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1443901 {source="MONDO:equivalentTo", source="Orphanet:178481", source="ORDO:178481/e"}
is_a: MONDO:0016468 {source="Orphanet:178481"} ! toxin-mediated infectious botulism
property_value: exactMatch DOID:0050141
property_value: exactMatch http://identifiers.org/snomedct/409563004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443901
property_value: exactMatch Orphanet:178481

[Term]
id: MONDO:0015806
name: adult intestinal botulism
def: "leading to toxin-mediated infection with toxemia." [Orphanet:178487]
subset: ordo_clinical_subtype {source="Orphanet:178487"}
synonym: "adult intestinal colonization botulism" EXACT [Orphanet:178487]
synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487]
synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487]
synonym: "infant-like botulism" EXACT [Orphanet:178487]
synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: ICD10:A05.1 {source="Orphanet:178487", source="ORDO:178487/ntbt"}
xref: NCIT:C128344 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:178487 {source="MONDO:equivalentTo"}
xref: UMLS:C4289991 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015805 {source="MONDO:Redundant", source="Orphanet:178487"} ! intestinal botulism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289991
property_value: exactMatch NCIT:C128344
property_value: exactMatch Orphanet:178487

[Term]
id: MONDO:0015807
name: myopic macular degeneration
subset: ordo_disease {source="Orphanet:178493"}
synonym: "myopic maculopathy" EXACT [Orphanet:178493]
xref: EFO:0009201 {source="MONDO:equivalentTo"}
xref: ICD10:H35.3 {source="MONDO:relatedTo", source="ORDO:178493/ntbt", source="Orphanet:178493"}
xref: Orphanet:178493 {source="MONDO:equivalentTo"}
xref: SCTID:312898002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0730271 {source="MONDO:equivalentTo", source="ORDO:178493/e", source="Orphanet:178493"}
is_a: MONDO:0020238 {source="Orphanet:178493"} ! inherited vitreous-retinal disease
property_value: exactMatch http://identifiers.org/snomedct/312898002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730271
property_value: exactMatch Orphanet:178493

[Term]
id: MONDO:0015808
name: folliculotropic mycosis fungoides
def: "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." [Orphanet:178512]
subset: ordo_disease {source="Orphanet:178512"}
synonym: "alopecia mucinosa (t cell lymphoma)" RELATED []
synonym: "follicular mucinosis type mycosis fungoides" EXACT []
synonym: "follicular mycosis fungoides" EXACT [NCIT:C35685]
synonym: "folliculotropic mycosis fungoides" EXACT []
synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [Orphanet:178512]
xref: ICD10:C84.0 {source="MONDO:subClassOf", source="ORDO:178512/ntbt", source="Orphanet:178512"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35685 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:178512 {source="MONDO:equivalentTo"}
xref: SCTID:404109006 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
xref: UMLS:C1627767 {source="ORDO:178512/e", source="MONDO:equivalentTo", source="NCIT:C35685", source="Orphanet:178512"}
is_a: MONDO:0021655 {source="linkedlifedata"} ! secondary catabolic mucinosis of skin
is_a: MONDO:0045071 {source="NCIT:C35685"} ! mycosis fungoides variant
relationship: excluded_subClassOf MONDO:0009691 {source="MONDOLEX:0015808", source="linkedlifedata"} ! mycosis fungoides
property_value: exactMatch http://identifiers.org/snomedct/404109006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1627767
property_value: exactMatch NCIT:C35685
property_value: exactMatch Orphanet:178512

[Term]
id: MONDO:0015809
name: localized pagetoid reticulosis
def: "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." [NCIT:C35794]
subset: ordo_disease {source="Orphanet:178517"}
synonym: "localised reticulosis" EXACT []
synonym: "localized reticulosis" EXACT []
synonym: "pagetoid reticulosis" EXACT [NCIT:C35794]
synonym: "pagetoid reticulosis, Woringer-Kolopp type" EXACT [Orphanet:178517]
xref: ICD10:C84.0 {source="ORDO:178517/ntbt", source="Orphanet:178517", source="MONDO:directSiblingOf"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D056267 {source="MONDO:equivalentTo", source="Orphanet:178517", source="ORDO:178517/e"}
xref: NCIT:C35794 {source="MONDO:equivalentTo"}
xref: Orphanet:178517 {source="MONDO:equivalentTo"}
xref: SCTID:404120006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1276140 {source="MONDO:equivalentTo", source="Orphanet:178517", source="ORDO:178517/e"}
is_a: MONDO:0045071 {source="NCIT:C35794"} ! mycosis fungoides variant
property_value: exactMatch http://identifiers.org/mesh/D056267
property_value: exactMatch http://identifiers.org/snomedct/404120006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276140
property_value: exactMatch NCIT:C35794
property_value: exactMatch Orphanet:178517

[Term]
id: MONDO:0015810
name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
subset: ordo_disease {source="Orphanet:178522"}
xref: ICD10:C84.4 {source="MONDO:relatedTo", source="Orphanet:178522", source="ORDO:178522/ntbt"}
xref: Orphanet:178522 {source="MONDO:equivalentTo"}
is_a: MONDO:0015816 {source="Orphanet:178522"} ! indolent primary cutaneous T-cell lymphoma
property_value: exactMatch Orphanet:178522

[Term]
id: MONDO:0015811
name: primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
def: "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." [Orphanet:178528]
subset: ordo_disease {source="Orphanet:178528"}
synonym: "Berti lymphoma" EXACT [Orphanet:178528]
synonym: "primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma" EXACT [Orphanet:178528]
xref: ICD10:C84.4 {source="ORDO:178528/ntbt", source="MONDO:relatedTo", source="Orphanet:178528"}
xref: Orphanet:178528 {source="MONDO:equivalentTo"}
xref: SCTID:765136002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015817 {source="Orphanet:178528"} ! aggressive primary cutaneous T-cell lymphoma
property_value: exactMatch http://identifiers.org/snomedct/765136002
property_value: exactMatch Orphanet:178528

[Term]
id: MONDO:0015812
name: primary cutaneous gamma/delta-positive T-cell lymphoma
def: "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported." [Orphanet:178533]
subset: ordo_disease {source="Orphanet:178533"}
xref: ICD10:C84.4 {source="MONDO:relatedTo", source="Orphanet:178533", source="ORDO:178533/ntbt"}
xref: Orphanet:178533 {source="MONDO:equivalentTo"}
is_a: MONDO:0015817 {source="Orphanet:178533"} ! aggressive primary cutaneous T-cell lymphoma
property_value: exactMatch Orphanet:178533

[Term]
id: MONDO:0015813
name: primary cutaneous marginal zone B-cell lymphoma
def: "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." [MESH:D018442]
subset: ordo_disease {source="Orphanet:178536"}
synonym: "C-MALT" EXACT [NCIT:C7230]
synonym: "cutaneous Immunocytoma" EXACT [NCIT:C7230]
synonym: "marginal zone B cell lymphoma of skin" EXACT [NCIT:C7230]
synonym: "marginal zone B cell lymphoma of the skin" EXACT [NCIT:C7230]
synonym: "PCMZL" EXACT [Orphanet:178536]
synonym: "Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "salt lymphoma" EXACT [NCIT:C7230]
synonym: "skin-associated lymphoid tissue lymphoma" EXACT [NCIT:C7230]
xref: ICD10:C83.0 {source="ORDO:178536/ntbt", source="Orphanet:178536"}
xref: NCIT:C7230 {source="MONDO:equivalentTo"}
xref: Orphanet:178536 {source="MONDO:equivalentTo"}
xref: SCTID:404140004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1275321 {source="MONDO:equivalentTo", source="ORDO:178536/e", source="Orphanet:178536"}
is_a: MONDO:0015819 {source="Orphanet:178536"} ! indolent primary cutaneous B-cell lymphoma
property_value: exactMatch http://identifiers.org/mesh/D018442
property_value: exactMatch http://identifiers.org/snomedct/404140004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275321
property_value: exactMatch NCIT:C7230
property_value: exactMatch Orphanet:178536

[Term]
id: MONDO:0015814
name: primary cutaneous follicle center lymphoma
def: "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin." [NCIT:P378]
subset: ordo_disease {source="Orphanet:178540"}
synonym: "Crosti's disease" EXACT [NCIT:C7217]
synonym: "cutaneous follicle center lymphoma" EXACT [NCIT:C7217]
synonym: "cutaneous follicle centre lymphoma" EXACT [NCIT:C7217]
synonym: "PCFCL" EXACT [ONCOTREE:PCFCL, Orphanet:178540]
synonym: "Reticulohistiocytoma of the dorsum" EXACT [NCIT:C7217]
xref: ICD10:C82.6 {source="Orphanet:178540", source="ORDO:178540/e"}
xref: ICDO:9597/3 {source="NCIT:C7217"}
xref: NCIT:C7217 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PCFCL {source="MONDO:equivalentTo"}
xref: Orphanet:178540 {source="MONDO:equivalentTo"}
xref: SCTID:404143002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C1333171 {source="Orphanet:178540", source="ORDO:178540/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015819 {source="Orphanet:178540"} ! indolent primary cutaneous B-cell lymphoma
property_value: exactMatch http://identifiers.org/snomedct/404143002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1631066
property_value: exactMatch NCIT:C7217
property_value: exactMatch Orphanet:178540

[Term]
id: MONDO:0015815
name: obsolete primary cutaneous diffuse large B-cell lymphoma, leg type
is_obsolete: true
replaced_by: MONDO:0006383

[Term]
id: MONDO:0015816
name: indolent primary cutaneous T-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178548"}
xref: Orphanet:178548 {source="MONDO:equivalentTo"}
is_a: MONDO:0015758 {source="MONDOLEX:0015816", source="Orphanet:178548"} ! primary cutaneous T-cell lymphoma
property_value: exactMatch Orphanet:178548

[Term]
id: MONDO:0015817
name: aggressive primary cutaneous T-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178551"}
xref: Orphanet:178551 {source="MONDO:equivalentTo"}
is_a: MONDO:0015758 {source="MONDOLEX:0015817", source="Orphanet:178551"} ! primary cutaneous T-cell lymphoma
property_value: exactMatch Orphanet:178551

[Term]
id: MONDO:0015818
name: aggressive primary cutaneous B-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178554"}
xref: Orphanet:178554 {source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0015820 {source="Orphanet:178554"} ! primary cutaneous B-cell lymphoma
is_a: MONDO:0017595 {source="Orphanet:178554"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:178554

[Term]
id: MONDO:0015819
name: indolent primary cutaneous B-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178557"}
xref: Orphanet:178557 {source="MONDO:equivalentTo"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0015820 {source="Orphanet:178557"} ! primary cutaneous B-cell lymphoma
is_a: MONDO:0017594 {source="Orphanet:178557"} ! indolent B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:178557

[Term]
id: MONDO:0015820
name: primary cutaneous B-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178563"}
xref: COHD:4294435 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:178563 {source="MONDO:equivalentTo"}
xref: SCTID:402881008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1274310 {source="ORDO:178563/e", source="Orphanet:178563", source="MONDO:equivalentTo"}
is_a: MONDO:0018898 {source="Orphanet:178563", source="linkedlifedata"} ! primary cutaneous lymphoma
property_value: exactMatch http://identifiers.org/snomedct/402881008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274310
property_value: exactMatch Orphanet:178563

[Term]
id: MONDO:0015821
name: mycosis fungoides and variants
def: "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." [Orphanet:178566]
subset: ordo_group_of_disorders {source="Orphanet:178566"}
xref: ICD10:C84.0 {source="Orphanet:178566", source="ORDO:178566/ntbt", source="MONDO:superClassOf"}
xref: Orphanet:178566 {source="MONDO:equivalentTo"}
xref: UMLS:CN226743 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015816 {source="Orphanet:178566"} ! indolent primary cutaneous T-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226743
property_value: exactMatch Orphanet:178566

[Term]
id: MONDO:0015822
name: acquired neutropenia
def: "An instance of neutropenia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:178996"}
synonym: "acquired neutropenia" EXACT [MONDO:patterns/acquired]
synonym: "immunologic neutropenia" EXACT [Orphanet:178996]
xref: Orphanet:178996 {source="MONDO:equivalentTo"}
is_a: MONDO:0001475 ! neutropenia
is_a: MONDO:0017769 {source="Orphanet:178996"} ! acquired immunodeficiency
intersection_of: MONDO:0001475 ! neutropenia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:178996

[Term]
id: MONDO:0015823
name: primary immunodeficiency due to a defect in adaptive immunity
subset: ordo_group_of_disorders {source="Orphanet:179006"}
xref: Orphanet:179006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="MONDO:Redundant", source="Orphanet:179006"} ! primary immunodeficiency disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015138"} ! rare
property_value: exactMatch Orphanet:179006

[Term]
id: MONDO:0015824
name: oculomaxillofacial dysostosis
def: "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." [Orphanet:1794]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1794"}
synonym: "oblique facial clefts" RELATED [GARD:0004046]
synonym: "oculomaxillofacial dysplasia with oblique facial clefts" RELATED [GARD:0004046]
synonym: "Richieri Costa Gorlin syndrome" RELATED [GARD:0004046]
synonym: "Richieri-Costa-Gorlin syndrome" EXACT [Orphanet:1794]
xref: GARD:0004046 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.1 {source="Orphanet:1794", source="ORDO:1794/attributed", source="ORDO:1794/ntbt"}
xref: MESH:C537736 {source="Orphanet:1794", source="ORDO:1794/e", source="MONDO:equivalentTo"}
xref: Orphanet:1794 {source="MONDO:equivalentTo", source="GARD:0004046"}
xref: SCTID:763830009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838348 {source="Orphanet:1794", source="ORDO:1794/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="GARD:0004046"}
is_a: MONDO:0015335 {source="Orphanet:1794"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019710 {source="Orphanet:1794"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch http://identifiers.org/mesh/C537736
property_value: exactMatch http://identifiers.org/snomedct/763830009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838348
property_value: exactMatch Orphanet:1794

[Term]
id: MONDO:0015825
name: obesity due to congenital leptin resistance
subset: ordo_group_of_disorders {source="Orphanet:179490"}
xref: ICD10:E66.8 {source="ORDO:179490/attributed", source="ORDO:179490/ntbt", source="Orphanet:179490"}
xref: Orphanet:179490 {source="MONDO:equivalentTo"}
is_a: MONDO:0020075 {source="Orphanet:179490"} ! genetic non-syndromic obesity
property_value: exactMatch Orphanet:179490

[Term]
id: MONDO:0015826
name: autosomal dominant spondylocostal dysostosis
def: "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." [Orphanet:1797]
subset: ordo_malformation_syndrome {source="Orphanet:1797"}
synonym: "autosomal dominant spondylocostal dysplasia" EXACT [Orphanet:1797]
synonym: "spondylocostal dysostosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:Q76.4 {source="ORDO:1797/attributed", source="ORDO:1797/ntbt", source="Orphanet:1797"}
xref: Orphanet:1797 {source="MONDO:equivalentTo"}
xref: SCTID:716232002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274761 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN200437 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000359 ! spondylocostal dysostosis
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0019711 {source="Orphanet:1797"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/snomedct/716232002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200437
property_value: exactMatch Orphanet:1797

[Term]
id: MONDO:0015827
name: distal renal tubular acidosis (disease)
def: "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." [Orphanet:18]
subset: ordo_disease {source="Orphanet:18"}
synonym: "classic RTA" EXACT [Orphanet:18]
synonym: "distal renal tubular acidosis" EXACT [MONDO:ambiguous]
synonym: "dRTA" EXACT [Orphanet:18]
synonym: "familial distal primary acidosis" EXACT [Orphanet:18]
synonym: "renal tubular acidosis type 1" EXACT [Orphanet:18]
synonym: "renal tubular acidosis, distal" RELATED [GARD:0004667]
xref: GARD:0004667 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0008341 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:N25.8 {source="ORDO:18/attributed", source="ORDO:18/ntbt", source="Orphanet:18"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10045224 {source="Orphanet:18", source="ORDO:18/e"}
xref: Orphanet:18 {source="MONDO:equivalentTo"}
xref: SCTID:236461000 {source="MONDO:kboom-pr-0.89/0.74/0.34", source="MONDO:equivalentTo"}
is_a: MONDO:0017828 {source="Orphanet:18"} ! primary renal tubular acidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704380
property_value: exactMatch http://identifiers.org/meddra/10045224
property_value: exactMatch http://identifiers.org/snomedct/236461000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259810
property_value: exactMatch Orphanet:18

[Term]
id: MONDO:0015828
name: uterovaginal malformation
subset: ordo_group_of_disorders {source="Orphanet:180062"}
xref: Orphanet:180062 {source="MONDO:equivalentTo"}
is_a: MONDO:0019937 {source="Orphanet:180062"} ! rare gynecologic or obstetric disease
property_value: exactMatch Orphanet:180062

[Term]
id: MONDO:0015829
name: non-syndromic uterovaginal malformation
def: "A uterovaginal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:180065"}
synonym: "isolated uterovaginal malformation" EXACT []
synonym: "isolated uterovaginal malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic uterovaginal malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:180065 {source="MONDO:equivalentTo"}
is_a: MONDO:0015828 {source="MONDO:Redundant", source="Orphanet:180065"} ! uterovaginal malformation
is_a: MONDO:0015932 {source="Orphanet:180065"} ! non-syndromic urogenital tract malformation of female
intersection_of: MONDO:0015828 ! uterovaginal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:180065

[Term]
id: MONDO:0015830
name: partial bilateral aplasia of the mullerian ducts
subset: ordo_group_of_disorders {source="Orphanet:180068"}
synonym: "incomplete bilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180068]
synonym: "incomplete bilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180068]
synonym: "partial bilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180068]
xref: ICD10:Q51.8 {source="ORDO:180068/attributed", source="ORDO:180068/ntbt", source="Orphanet:180068"}
xref: Orphanet:180068 {source="MONDO:equivalentTo"}
is_a: MONDO:0019128 {source="Orphanet:180068"} ! mullerian aplasia
property_value: exactMatch Orphanet:180068

[Term]
id: MONDO:0015831
name: unilateral aplasia of the mullerian ducts
subset: ordo_group_of_disorders {source="Orphanet:180071"}
synonym: "unicornuate uterus" EXACT [Orphanet:180071]
synonym: "unilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180071]
xref: ICD10:Q51.4 {source="ORDO:180071/specific", source="Orphanet:180071", source="ORDO:180071/e"}
xref: Orphanet:180071 {source="MONDO:equivalentTo"}
is_a: MONDO:0019128 {source="Orphanet:180071"} ! mullerian aplasia
property_value: exactMatch Orphanet:180071

[Term]
id: MONDO:0015832
name: true unicornuate uterus
def: "True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated." [Orphanet:180074]
subset: ordo_morphological_anomaly {source="Orphanet:180074"}
synonym: "complete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180074]
synonym: "complete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180074]
synonym: "complete unilateral Mullerian aplasia" EXACT [Orphanet:180074]
synonym: "complete unilateral Müllerian aplasia" EXACT [Orphanet:180074]
synonym: "unicornuate uterus without rudimentary horn" EXACT [Orphanet:180074]
xref: ICD10:Q51.4 {source="ORDO:180074/attributed", source="ORDO:180074/ntbt", source="Orphanet:180074"}
xref: Orphanet:180074 {source="MONDO:equivalentTo"}
is_a: MONDO:0015831 {source="MONDOLEX:0015832", source="Orphanet:180074"} ! unilateral aplasia of the mullerian ducts
property_value: exactMatch Orphanet:180074

[Term]
id: MONDO:0015833
name: pseudounicornuate uterus
def: "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." [Orphanet:180079]
subset: ordo_morphological_anomaly {source="Orphanet:180079"}
synonym: "incomplete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180079]
synonym: "incomplete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180079]
synonym: "incomplete unilateral Mullerian aplasia" EXACT [Orphanet:180079]
synonym: "incomplete unilateral Müllerian aplasia" EXACT [Orphanet:180079]
synonym: "unicornuate uterus with rudimentary horn" EXACT [Orphanet:180079]
xref: ICD10:Q51.4 {source="ORDO:180079/attributed", source="ORDO:180079/ntbt", source="Orphanet:180079"}
xref: Orphanet:180079 {source="MONDO:equivalentTo"}
is_a: MONDO:0015831 {source="MONDOLEX:0015833", source="Orphanet:180079"} ! unilateral aplasia of the mullerian ducts
property_value: exactMatch Orphanet:180079

[Term]
id: MONDO:0015834
name: didelphys uterus
subset: ordo_morphological_anomaly {source="Orphanet:180086"}
synonym: "Bicervical bicornuate uterus" EXACT [Orphanet:180086]
xref: ICD10:Q51.1 {source="Orphanet:180086", source="ORDO:180086/e"}
xref: ICD9:752.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10012770 {source="Orphanet:180086", source="ORDO:180086/e"}
xref: Orphanet:180086 {source="MONDO:equivalentTo"}
xref: SCTID:15545001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0015842 {source="Orphanet:180086"} ! bicornuate uterus
property_value: exactMatch http://identifiers.org/meddra/10012770
property_value: exactMatch http://identifiers.org/snomedct/15545001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266393
property_value: exactMatch Orphanet:180086

[Term]
id: MONDO:0015835
name: Bicervical bicornuate uterus and blind hemivagina
subset: ordo_clinical_subtype {source="Orphanet:180106"}
xref: ICD10:Q51.1 {source="Orphanet:180106", source="ORDO:180106/ntbt"}
xref: Orphanet:180106 {source="MONDO:equivalentTo"}
is_a: MONDO:0015834 {source="MONDOLEX:0015835", source="Orphanet:180106"} ! didelphys uterus
property_value: exactMatch Orphanet:180106

[Term]
id: MONDO:0015836
name: Bicervical bicornuate uterus with patent cervix and vagina
subset: ordo_clinical_subtype {source="Orphanet:180111"}
xref: ICD10:Q51.1 {source="ORDO:180111/ntbt", source="Orphanet:180111"}
xref: Orphanet:180111 {source="MONDO:equivalentTo"}
is_a: MONDO:0015834 {source="MONDOLEX:0015836", source="Orphanet:180111"} ! didelphys uterus
property_value: exactMatch Orphanet:180111

[Term]
id: MONDO:0015837
name: Unicervical bicornuate uterus
subset: ordo_group_of_disorders {source="Orphanet:180114"}
xref: ICD10:Q51.3 {source="Orphanet:180114", source="ORDO:180114/ntbt"}
xref: Orphanet:180114 {source="MONDO:equivalentTo"}
is_a: MONDO:0015842 {source="Orphanet:180114"} ! bicornuate uterus
property_value: exactMatch Orphanet:180114

[Term]
id: MONDO:0015838
name: cordiform uterus
subset: ordo_morphological_anomaly {source="Orphanet:180118"}
synonym: "uterus arcuatus" EXACT [Orphanet:180118]
synonym: "uterus cordiformis" EXACT [Orphanet:180118]
xref: ICD10:Q51.3 {source="Orphanet:180118", source="ORDO:180118/ntbt"}
xref: Orphanet:180118 {source="MONDO:equivalentTo"}
xref: SCTID:14689000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0015837 {source="Orphanet:180118"} ! Unicervical bicornuate uterus
property_value: exactMatch http://identifiers.org/snomedct/14689000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266397
property_value: exactMatch Orphanet:180118

[Term]
id: MONDO:0015839
name: septate uterus
subset: ordo_group_of_disorders {source="Orphanet:180122"}
xref: ICD10:Q51.2 {source="ORDO:180122/ntbt", source="Orphanet:180122"}
xref: MedDRA:10062606 {source="ORDO:180122/e", source="Orphanet:180122"}
xref: Orphanet:180122 {source="MONDO:equivalentTo"}
xref: SCTID:22504001 {source="MONDO:kboom-pr-0.99/0.73/5.15", source="MONDO:equivalentTo"}
is_a: MONDO:0015829 {source="Orphanet:180122"} ! non-syndromic uterovaginal malformation
is_a: MONDO:0018403 {source="Orphanet:180122"} ! female infertility due to an implantation defect
property_value: exactMatch http://identifiers.org/meddra/10062606
property_value: exactMatch http://identifiers.org/snomedct/22504001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152240
property_value: exactMatch Orphanet:180122

[Term]
id: MONDO:0015840
name: complete septate uterus
def: "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." [Orphanet:180126]
subset: ordo_morphological_anomaly {source="Orphanet:180126"}
synonym: "total septate uterus" EXACT [Orphanet:180126]
xref: ICD10:Q51.2 {source="ORDO:180126/ntbt", source="Orphanet:180126"}
xref: Orphanet:180126 {source="MONDO:equivalentTo"}
is_a: MONDO:0015839 {source="Orphanet:180126"} ! septate uterus
property_value: exactMatch Orphanet:180126

[Term]
id: MONDO:0015841
name: partial septate uterus
def: "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." [Orphanet:180129]
subset: ordo_morphological_anomaly {source="Orphanet:180129"}
synonym: "subtotal septate uterus" EXACT [Orphanet:180129]
synonym: "uterus subseptus" EXACT [Orphanet:180129]
xref: ICD10:Q51.2 {source="Orphanet:180129", source="ORDO:180129/ntbt"}
xref: Orphanet:180129 {source="MONDO:equivalentTo"}
xref: SCTID:5364006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015839 {source="Orphanet:180129", source="linkedlifedata"} ! septate uterus
property_value: exactMatch http://identifiers.org/snomedct/5364006
property_value: exactMatch Orphanet:180129

[Term]
id: MONDO:0015842
name: bicornuate uterus
subset: ordo_group_of_disorders {source="Orphanet:180134"}
xref: COHD:4150816 {source="MONDO:equivalentTo"}
xref: ICD10:Q51.3 {source="Orphanet:180134", source="ORDO:180134/e"}
xref: MedDRA:10004550 {source="Orphanet:180134", source="ORDO:180134/e"}
xref: Orphanet:180134 {source="MONDO:equivalentTo"}
xref: SCTID:31401003 {source="MONDO:kboom-pr-1.00/0.84/14.94", source="MONDO:equivalentTo"}
is_a: MONDO:0015829 {source="Orphanet:180134"} ! non-syndromic uterovaginal malformation
property_value: exactMatch http://identifiers.org/meddra/10004550
property_value: exactMatch http://identifiers.org/snomedct/31401003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266387
property_value: exactMatch Orphanet:180134

[Term]
id: MONDO:0015843
name: uterine hypoplasia
subset: ordo_morphological_anomaly {source="Orphanet:180139"}
xref: ICD10:Q51.8 {source="Orphanet:180139", source="ORDO:180139/ntbt"}
xref: MedDRA:10063146 {source="Orphanet:180139", source="ORDO:180139/e"}
xref: Orphanet:180139 {source="MONDO:equivalentTo"}
is_a: MONDO:0015829 {source="Orphanet:180139"} ! non-syndromic uterovaginal malformation
property_value: exactMatch http://identifiers.org/meddra/10063146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266399
property_value: exactMatch Orphanet:180139

[Term]
id: MONDO:0015844
name: agenesis and aplasia of uterine body
subset: ordo_morphological_anomaly {source="Orphanet:180142"}
xref: ICD10:Q51.0 {source="ORDO:180142/e", source="Orphanet:180142"}
xref: Orphanet:180142 {source="MONDO:equivalentTo"}
is_a: MONDO:0015829 {source="Orphanet:180142"} ! non-syndromic uterovaginal malformation
is_a: MONDO:0018403 {source="Orphanet:180142"} ! female infertility due to an implantation defect
property_value: exactMatch Orphanet:180142

[Term]
id: MONDO:0015845
name: uterine cervical aplasia and agenesis
subset: ordo_morphological_anomaly {source="Orphanet:180145"}
xref: ICD10:Q51.5 {source="Orphanet:180145", source="ORDO:180145/e"}
xref: Orphanet:180145 {source="MONDO:equivalentTo"}
is_a: MONDO:0015829 {source="Orphanet:180145"} ! non-syndromic uterovaginal malformation
is_a: MONDO:0018403 {source="Orphanet:180145"} ! female infertility due to an implantation defect
property_value: exactMatch Orphanet:180145

[Term]
id: MONDO:0015846
name: syndromic uterovaginal malformation
def: "A uterovaginal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:180148"}
synonym: "syndrome associated with uterovaginal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with uterovaginal malformation" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic uterovaginal malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:180148 {source="MONDO:equivalentTo"}
xref: UMLS:CN226751 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015828 {source="MONDO:Redundant", source="Orphanet:180148"} ! uterovaginal malformation
intersection_of: MONDO:0015828 ! uterovaginal malformation
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226751
property_value: exactMatch Orphanet:180148

[Term]
id: MONDO:0015847
name: rare vaginal malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180151"}
xref: Orphanet:180151 {source="MONDO:equivalentTo"}
xref: UMLS:CN226752 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015932 {source="Orphanet:180151"} ! non-syndromic urogenital tract malformation of female
is_a: MONDO:0019937 {source="Orphanet:180151"} ! rare gynecologic or obstetric disease
is_a: MONDO:0021124 {source="Orphanet:180151"} ! female infertility
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226752
property_value: exactMatch Orphanet:180151
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015848
name: septate vagina
comment: Editor note: consider ceding this and subclasses to HPO
subset: ordo_morphological_anomaly {source="Orphanet:180154"}
xref: COHD:4186281 {source="MONDO:equivalentTo"}
xref: HP:0001153 {source="MONDO:otherHierarchy"}
xref: ICD10:Q52.1 {source="ORDO:180154/ntbt", source="Orphanet:180154"}
xref: ICD9:752.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:180154 {source="MONDO:equivalentTo"}
xref: SCTID:47054003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015847 {source="Orphanet:180154"} ! rare vaginal malformation
property_value: exactMatch http://identifiers.org/snomedct/47054003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266411
property_value: exactMatch Orphanet:180154

[Term]
id: MONDO:0015849
name: longitudinal vaginal septum
subset: ordo_clinical_subtype {source="Orphanet:180157"}
xref: HP:0008740 {source="MONDO:otherHierarchy"}
xref: ICD10:Q52.1 {source="ORDO:180157/ntbt", source="Orphanet:180157"}
xref: Orphanet:180157 {source="MONDO:equivalentTo"}
is_a: MONDO:0015848 {source="Orphanet:180157"} ! septate vagina
property_value: exactMatch Orphanet:180157

[Term]
id: MONDO:0015850
name: transverse vaginal septum
subset: ordo_clinical_subtype {source="Orphanet:180160"}
xref: HP:0000145 {source="MONDO:otherHierarchy"}
xref: ICD10:Q52.1 {source="Orphanet:180160", source="ORDO:180160/ntbt"}
xref: ICD10:Q52.11 {source="MONDO:equivalentTo"}
xref: Orphanet:180160 {source="MONDO:equivalentTo"}
is_a: MONDO:0015848 {source="Orphanet:180160"} ! septate vagina
property_value: exactMatch Orphanet:180160

[Term]
id: MONDO:0015851
name: rare breast malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180163"}
xref: Orphanet:180163 {source="MONDO:equivalentTo"}
is_a: MONDO:0002657 {source="MONDO:cjm"} ! breast disease
is_a: MONDO:0019937 {source="Orphanet:180163"} ! rare gynecologic or obstetric disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266008
property_value: exactMatch Orphanet:180163
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015852
name: excess breast volume or number
subset: ordo_group_of_disorders {source="Orphanet:180170"}
xref: Orphanet:180170 {source="MONDO:equivalentTo"}
is_a: MONDO:0015851 {source="Orphanet:180170"} ! rare breast malformation
property_value: exactMatch Orphanet:180170

[Term]
id: MONDO:0015853
name: deficient breast volume or number
subset: ordo_group_of_disorders {source="Orphanet:180173"}
xref: Orphanet:180173 {source="MONDO:equivalentTo"}
is_a: MONDO:0015851 {source="Orphanet:180173"} ! rare breast malformation
property_value: exactMatch Orphanet:180173

[Term]
id: MONDO:0015854
name: supernumerary breasts
subset: ordo_morphological_anomaly {source="Orphanet:180182"}
synonym: "accessory breasts" EXACT [Orphanet:180182]
synonym: "polymastia" EXACT [Orphanet:180182]
xref: ICD10:Q83.1 {source="ORDO:180182/e", source="Orphanet:180182"}
xref: MedDRA:10049786 {source="ORDO:180182/e", source="Orphanet:180182"}
xref: Orphanet:180182 {source="MONDO:equivalentTo"}
is_a: MONDO:0015852 {source="Orphanet:180182"} ! excess breast volume or number
property_value: exactMatch http://identifiers.org/meddra/10049786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266010
property_value: exactMatch Orphanet:180182

[Term]
id: MONDO:0015855
name: isolated congenital breast hypoplasia/aplasia
subset: ordo_morphological_anomaly {source="Orphanet:180188"}
synonym: "breasts and/or nipples, aplasia or hypoplasia of" EXACT [OMIMPS:113700]
synonym: "isolated congenital amastia" EXACT [Orphanet:180188]
xref: ICD10:Q83.0 {source="ORDO:180188/e", source="Orphanet:180188", source="ORDO:180188/specific"}
xref: OMIMPS:113700 {source="DC:0000671", source="MONDO:equivalentTo"}
xref: Orphanet:180188 {source="MONDO:equivalentTo"}
is_a: MONDO:0015853 {source="Orphanet:180188"} ! deficient breast volume or number
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432357
property_value: exactMatch Orphanet:180188

[Term]
id: MONDO:0015856
name: syndromic breast hypoplasia/aplasia
subset: ordo_group_of_disorders {source="Orphanet:180193"}
xref: Orphanet:180193 {source="MONDO:equivalentTo"}
xref: UMLS:CN226755 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015853 {source="Orphanet:180193"} ! deficient breast volume or number
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226755
property_value: exactMatch Orphanet:180193

[Term]
id: MONDO:0015857
name: rare non-malformative gynecologic or obstetric disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180199"}
xref: Orphanet:180199 {source="MONDO:equivalentTo"}
xref: UMLS:CN200458 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019937 {source="Orphanet:180199"} ! rare gynecologic or obstetric disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200458
property_value: exactMatch Orphanet:180199
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015858
name: rare non-malformative breast disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180202"}
xref: Orphanet:180202 {source="MONDO:equivalentTo"}
xref: UMLS:CN200460 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015857 {source="Orphanet:180202"} ! rare non-malformative gynecologic or obstetric disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200460
property_value: exactMatch Orphanet:180202
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015859
name: rare non-malformative uterovaginal or vulvovaginal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180205"}
xref: Orphanet:180205 {source="MONDO:equivalentTo"}
xref: UMLS:CN200461 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015857 {source="Orphanet:180205"} ! rare non-malformative gynecologic or obstetric disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200461
property_value: exactMatch Orphanet:180205
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015860
name: anomaly of puberty or/and menstrual cycle
subset: ordo_group_of_disorders {source="Orphanet:180208"}
xref: Orphanet:180208 {source="MONDO:equivalentTo"}
is_a: MONDO:0019937 {source="Orphanet:180208"} ! rare gynecologic or obstetric disease
property_value: exactMatch Orphanet:180208

[Term]
id: MONDO:0015861
name: rare uterine adnexal tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180220"}
synonym: "syn: Rare tumor of ovaries and fallopian tubes" EXACT [Orphanet:180220]
xref: Orphanet:180220 {source="MONDO:equivalentTo"}
xref: UMLS:CN200464 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021148 {source="Orphanet:180220"} ! female reproductive system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020037"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200464
property_value: exactMatch Orphanet:180220
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015862
name: obsolete embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0005440

[Term]
id: MONDO:0015863
name: polyembryoma
def: "Polyembryoma is a type oftumor that develops from the cells of the gonads ( testes in men or ovaries in women). Such tumors are called germ cell tumors . Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos , one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty ); or irregularities in a female's menstruation . Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy . The cause of polyembryoma is not yet known." [https://rarediseases.info.nih.gov/diseases/9621/polyembryoma]
subset: gard_rare {source="GARD:0009621"}
subset: ordo_disease {source="Orphanet:180229"}
synonym: "gonadal polyembryoma" RELATED [GARD:0009621]
xref: GARD:0009621 {source="MONDO:equivalentTo"}
xref: NCIT:C66776 {source="MONDO:equivalentTo"}
xref: Orphanet:180229 {source="MONDO:equivalentTo"}
xref: UMLS:C0334518 {source="ORDO:180229/e", source="Orphanet:180229", source="MONDO:equivalentTo"}
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334518
property_value: exactMatch NCIT:C66776
property_value: exactMatch Orphanet:180229
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9621/polyembryoma xsd:anyURI {source="GARD:0009621"}

[Term]
id: MONDO:0015864
name: mixed germ cell tumor
def: "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum." [NCIT:C4290]
subset: ordo_disease {source="Orphanet:180234"}
synonym: "combined germ cell neoplasm" EXACT [NCIT:C4290]
synonym: "combined germ cell tumor" EXACT [NCIT:C4290]
synonym: "mixed germ cell cancer" EXACT [MONDO:0002600]
synonym: "mixed germ cell neoplasm" EXACT [NCIT:C4290]
synonym: "mixed germ cell tumor" EXACT [NCIT:C4290]
synonym: "mixed germ cell tumour" EXACT [DOID:3306]
synonym: "mixed teratoma and seminoma" EXACT EXCLUDE [DOID:3306]
xref: DOID:3306 {source="MONDO:equivalentTo"}
xref: ICDO:9085/3 {source="NCIT:C4290"}
xref: NCIT:C4290 {source="MONDO:subClassOf", source="MONDO:kboom-pr-0.95/0.86/1.09", source="MONDO:equivalentTo", source="DOID:3306"}
xref: Orphanet:180234 {source="MONDO:equivalentTo"}
xref: UMLS:C0334524 {source="MONDO:equivalentTo", source="DOID:3306", source="ORDO:180234/e", source="NCIT:C4290", source="Orphanet:180234"}
is_a: MONDO:0006290 {source="MONDOLEX:0015864", source="NCIT:C4290"} ! malignant germ cell tumor
relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:180234"} ! extragonadal non-dysgerminomatous germ cell tumor
property_value: closeMatch http://identifiers.org/snomedct/189853002
property_value: closeMatch http://identifiers.org/snomedct/32844007
property_value: exactMatch DOID:3306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334524
property_value: exactMatch NCIT:C4290
property_value: exactMatch Orphanet:180234

[Term]
id: MONDO:0015865
name: obsolete benign tumor of fallopian tubes
is_obsolete: true
replaced_by: MONDO:0000645

[Term]
id: MONDO:0015866
name: obsolete malignant tumor of fallopian tubes
is_obsolete: true
replaced_by: MONDO:0002158

[Term]
id: MONDO:0015867
name: vaginal carcinoma
def: "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." [NCIT:P378]
subset: ordo_disease {source="Orphanet:180247"}
synonym: "cancer of the vagina" BROAD [NCIT:C3917]
synonym: "cancer of vagina" BROAD [NCIT:C3917]
synonym: "carcinoma of the vagina" EXACT [NCIT:C3917]
synonym: "carcinoma of vagina" EXACT [MONDO:patterns/carcinoma, NCIT:C3917]
synonym: "vagina cancer" BROAD [NCIT:C3917]
synonym: "vagina carcinoma" EXACT [MONDO:patterns/location, NCIT:C3917]
synonym: "vaginal cancer" BROAD [NCIT:C3917]
synonym: "vaginal cancer, NOS" BROAD [NCIT:C3917]
synonym: "vaginal carcinoma" EXACT [NCIT:C3917]
synonym: "vaginal malignant epithelial tumor" BROAD [Orphanet:180247]
xref: DOID:0050918 {source="MONDO:equivalentTo"}
xref: ICD10:C52 {source="ORDO:180247/ntbt", source="Orphanet:180247"}
xref: NCIT:C3917 {source="kboom:pr0.79-conf5.41", source="MONDO:equivalentTo"}
xref: Orphanet:180247 {source="MONDO:equivalentTo"}
xref: UMLS:C0262659 {source="NCIT:C3917", source="MONDO:equivalentTo", source="ORDO:180247/e", source="Orphanet:180247"}
is_a: MONDO:0001402 {source="DOID:0050918", source="MONDO:Redundant", source="MONDOLEX:0015867", source="NCIT:C3917"} ! vaginal cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0015867", source="NCIT:C3917", source="OWLReasoner:2017"} ! carcinoma
is_a: MONDO:0015876 {source="Orphanet:180247"} ! rare vulvovaginal tumor
property_value: exactMatch DOID:0050918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262659
property_value: exactMatch NCIT:C3917
property_value: exactMatch Orphanet:180247

[Term]
id: MONDO:0015868
name: obsolete rare breast tumor
def: "Any of the forms of breast neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180250"}
synonym: "rare breast cancer" NARROW []
synonym: "rare breast neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:180250 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:180250
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021100
consider: UMLS:C1458155 {source="Orphanet:180250"}

[Term]
id: MONDO:0015869
name: obsolete rare benign breast tumor
def: "Any of the forms of breast benign neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180253"}
synonym: "rare breast benign neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:180253 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:180253
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000620
consider: UMLS:C0346156 {source="Orphanet:180253"}

[Term]
id: MONDO:0015870
name: obsolete rare malignant breast tumor
def: "Any of the forms of breast cancer that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180257"}
synonym: "rare breast cancer" EXACT [MONDO:patterns/rare, Orphanet:180257]
xref: Orphanet:180257 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200474 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200474
property_value: exactMatch Orphanet:180257
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007254
consider: UMLS:C0006142 {source="Orphanet:180257"}
consider: UMLS:C0678222 {source="MONDO:relatedTo", source="Orphanet:180257"}

[Term]
id: MONDO:0015871
name: benign breast phyllodes tumor
def: "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." [NCIT:C5196]
subset: ordo_disease {source="Orphanet:180261"}
synonym: "benign breast phyllodes tumor" EXACT [NCIT:C5196]
synonym: "benign cystosarcoma phyllodes" RELATED [DOID:1631]
synonym: "benign phyllodes neoplasm" BROAD [DOID:1631, NCIT:C4274]
synonym: "benign phyllodes neoplasm of breast" EXACT [NCIT:C5196]
synonym: "benign phyllodes neoplasm of the breast" EXACT [DOID:1631, NCIT:C5196]
synonym: "benign phyllodes tumor of breast" EXACT [NCIT:C5196]
synonym: "benign phyllodes tumor of the breast" EXACT [NCIT:C5196]
synonym: "BPT" RELATED [ONCOTREE:BPT]
synonym: "breast benign phyllodes neoplasm" EXACT [NCIT:C5196]
synonym: "breast phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
synonym: "cystosarcoma phyllode" RELATED [Orphanet:180261]
synonym: "cystosarcoma phyllode of the breast" EXACT [Orphanet:180261]
synonym: "cystosarcoma phyllodes" RELATED [DOID:1631]
synonym: "cystosarcoma phyllodes NOS (morphologic abnormality)" RELATED [DOID:1631]
synonym: "cystosarcoma phyllodes, NOS" RELATED EXCLUDE [DOID:1631]
synonym: "cystosarcoma phylloide" RELATED [Orphanet:180261]
synonym: "cystosarcoma phylloide of the breast" EXACT [Orphanet:180261]
synonym: "phyllode tumor of the breast" RELATED [Orphanet:180261]
synonym: "phyllodes neoplasm" BROAD [DOID:1631, NCIT:C2977]
synonym: "phyllodes tumor, benign" EXACT EXCLUDE [DOID:1631]
synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [DOID:1631]
synonym: "phylloide tumor of the breast" EXACT [Orphanet:180261]
xref: DOID:1631 {source="MONDO:equivalentTo"}
xref: ICD10:D48.6 {source="DOID:1631", source="ORDO:180261/ntbt", source="Orphanet:180261"}
xref: MedDRA:10011813 {source="ORDO:180261/e", source="Orphanet:180261"}
xref: NCIT:C5196 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BPT {source="MONDO:equivalentTo"}
xref: Orphanet:180261 {source="MONDO:equivalentTo"}
xref: SCTID:720344007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1332533 {source="NCIT:C5196", source="MONDO:equivalentTo", source="DOID:1631"}
is_a: MONDO:0000620 {source="DOID:1631", source="MONDO:Redundant", source="NCIT:C5196", source="Orphanet:180261", source="indirect", source="linkedlifedata"} ! breast benign neoplasm
is_a: MONDO:0021047 {source="MONDO:Redundant", source="MONDOLEX:0015871", source="NCIT:C5196", source="ONCOTREE:BPT", source="linkedlifedata"} ! breast phyllodes tumor
is_a: MONDO:0037002 {source="MONDO:Redundant", source="MONDOLEX:0015871", source="NCIT:C5196"} ! benign phyllodes tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0015869"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154641007
property_value: closeMatch http://identifiers.org/snomedct/16566002
property_value: closeMatch http://identifiers.org/snomedct/189505009
property_value: closeMatch http://identifiers.org/snomedct/189825002
property_value: closeMatch http://identifiers.org/snomedct/269651007
property_value: closeMatch http://identifiers.org/snomedct/71232009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334501
property_value: exactMatch DOID:1631
property_value: exactMatch http://identifiers.org/meddra/10011813
property_value: exactMatch http://identifiers.org/snomedct/720344007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332533
property_value: exactMatch NCIT:C5196
property_value: exactMatch Orphanet:180261

[Term]
id: MONDO:0015872
name: giant adenofibroma of the breast
def: "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." [Orphanet:180267]
subset: ordo_disease {source="Orphanet:180267"}
xref: ICD10:D24 {source="ORDO:180267/ntbt", source="Orphanet:180267"}
xref: Orphanet:180267 {source="MONDO:equivalentTo"}
xref: UMLS:CN200476 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000620 {source="Orphanet:180267"} ! breast benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015869"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200476
property_value: exactMatch Orphanet:180267

[Term]
id: MONDO:0015873
name: Paget disease of the nipple
def: "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." [Orphanet:180275]
subset: ordo_disease {source="Orphanet:180275"}
synonym: "mammary Paget disease" EXACT [Orphanet:180275]
synonym: "nipple Paget's disease" EXACT [NCIT:C3301]
synonym: "Paget disease of the breast" EXACT [Orphanet:180275]
synonym: "Paget disease of the nipple" EXACT [NCIT:C3301]
synonym: "Paget's disease of nipple" EXACT [NCIT:C3301]
synonym: "Paget's disease of the nipple" EXACT [NCIT:C3301, Orphanet:180275]
synonym: "Paget's disease, mammary" RELATED [GARD:0007303]
synonym: "PD" RELATED [ONCOTREE:PD]
xref: GARD:0007303 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C50.0 {source="ORDO:180275/ntbt", source="Orphanet:180275"}
xref: MedDRA:10033367 {source="Orphanet:180275", source="ORDO:180275/e"}
xref: NCIT:C3301 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.09"}
xref: ONCOTREE:PD {source="MONDO:equivalentTo"}
xref: Orphanet:180275 {source="MONDO:equivalentTo"}
xref: SCTID:403946000 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C1704323 {source="MONDO:equivalentTo", source="NCIT:C3301", source="Orphanet:180275", source="ORDO:180275/e"}
is_a: MONDO:0002648 {source="MONDOLEX:0015873", source="NCIT:C3301"} ! mammary Paget disease
is_a: MONDO:0003950 {source="NCIT:C3301"} ! nipple carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0015870"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10033367
property_value: exactMatch http://identifiers.org/mesh/D010144
property_value: exactMatch http://identifiers.org/snomedct/403946000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030185
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704323
property_value: exactMatch NCIT:C3301
property_value: exactMatch Orphanet:180275

[Term]
id: MONDO:0015874
name: benign ductal tumor of breast
subset: ordo_disease {source="Orphanet:180284"}
xref: ICD10:D24 {source="ORDO:180284/ntbt", source="Orphanet:180284"}
xref: Orphanet:180284 {source="MONDO:equivalentTo"}
xref: UMLS:CN200479 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021100 {source="Orphanet:180284"} ! breast neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015868"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200479
property_value: exactMatch Orphanet:180284

[Term]
id: MONDO:0015875
name: rare non-malformative uterine adnexal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180303"}
xref: Orphanet:180303 {source="MONDO:equivalentTo"}
xref: UMLS:CN200481 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015857 {source="Orphanet:180303"} ! rare non-malformative gynecologic or obstetric disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200481
property_value: exactMatch Orphanet:180303
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015876
name: rare vulvovaginal tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180312"}
xref: Orphanet:180312 {source="MONDO:equivalentTo"}
xref: UMLS:CN200482 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021148 {source="Orphanet:180312"} ! female reproductive system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020037"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200482
property_value: exactMatch Orphanet:180312
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015877
name: malformative syndrome with dentinogenesis imperfecta
subset: ordo_group_of_disorders {source="Orphanet:180766"}
xref: Orphanet:180766 {source="MONDO:equivalentTo"}
xref: UMLS:CN200485 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:180766"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019183 {source="Orphanet:180766"} ! inherited odontologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200485
property_value: exactMatch Orphanet:180766

[Term]
id: MONDO:0015878
name: obsolete rare disease with autism
comment: This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead.
subset: ordo_group_of_disorders {source="Orphanet:180772"}
xref: Orphanet:180772 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200486 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200486
property_value: exactMatch Orphanet:180772
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1766 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015879
name: non-syndromic diaphragmatic or thoracic malformation
subset: ordo_group_of_disorders {source="Orphanet:180776"}
synonym: "isolated diaphragmatic or thoracic malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic diaphragmatic or thoracic malformation" EXACT [MONDO:DesignPattern]
xref: Orphanet:180776 {source="MONDO:equivalentTo"}
is_a: MONDO:0000651 ! thoracic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020002"} ! rare
property_value: exactMatch Orphanet:180776

[Term]
id: MONDO:0015880
name: syndromic diaphragmatic or thoracic malformation
subset: ordo_group_of_disorders {source="Orphanet:180779"}
xref: Orphanet:180779 {source="MONDO:equivalentTo"}
xref: UMLS:CN226770 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000651 ! thoracic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020002"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226770
property_value: exactMatch Orphanet:180779

[Term]
id: MONDO:0015881
name: obsolete gastroesophageal tumor
def: "A tumor involving the gastroesophageal tissue." [MONDO:patterns/neoplasm]
comment: Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist.
subset: ordo_group_of_disorders {source="Orphanet:180821"}
synonym: "rare gastroesophageal tumor" EXACT [Orphanet:180821]
xref: Orphanet:180821 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200488 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200488
property_value: exactMatch Orphanet:180821
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1760 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015882
name: obsolete rare tumor of pancreas
def: "Any of the forms of pancreatic neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:180824"}
synonym: "rare pancreas neoplasm" EXACT []
synonym: "rare pancreas tumor" EXACT []
synonym: "rare pancreatic neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare pancreatic tumor" EXACT [Orphanet:180824]
xref: Orphanet:180824 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:180824
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021040
consider: MedDRA:10061902 {source="Orphanet:180824", source="ORDO:180824/e"}
consider: UMLS:C0030297 {source="Orphanet:180824", source="ORDO:180824/e"}

[Term]
id: MONDO:0015883
name: hidrotic ectodermal dysplasia, Halal type
def: "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." [Orphanet:1809]
subset: ordo_malformation_syndrome {source="Orphanet:1809"}
synonym: "ectodermal dysplasia with skin anomalies and intellectual disability" EXACT [Orphanet:1809]
synonym: "Halal Setton Wang syndrome" RELATED [GARD:0000280]
synonym: "Halal-Setton-Wang syndrome" EXACT [Orphanet:1809]
synonym: "hidrotic ectodermal dysplasia Halal type" RELATED [GARD:0000280]
synonym: "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome" EXACT [Orphanet:1809]
xref: GARD:0000280 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:1809", source="ORDO:1809/attributed", source="ORDO:1809/ntbt"}
xref: MESH:C535621 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1809 {source="MONDO:equivalentTo"}
xref: SCTID:721147000 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: UMLS:C2930953 {source="Orphanet:1809", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MESH:C535621", source="MONDOLEX:0015883", source="Orphanet:1809", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535621
property_value: exactMatch http://identifiers.org/snomedct/721147000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930953
property_value: exactMatch Orphanet:1809

[Term]
id: MONDO:0015884
name: autosomal dominant hypohidrotic ectodermal dysplasia
def: "Autosomal dominant form of hypohidrotic ectodermal dysplasia." [MONDO:patterns/autosomal_dominant]
subset: ordo_etiological_subtype {source="Orphanet:1810"}
synonym: "AD-HED" EXACT [Orphanet:1810]
synonym: "autosomal dominant anhidrotic ectodermal dysplasia" EXACT [Orphanet:1810]
synonym: "hypohidrotic ectodermal dysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:Q82.4 {source="ORDO:1810/attributed", source="ORDO:1810/ntbt", source="Orphanet:1810"}
xref: Orphanet:1810 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016535 {source="MONDO:Redundant", source="MONDOLEX:0015884", source="Orphanet:1810"} ! hypohidrotic ectodermal dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265331
property_value: exactMatch Orphanet:1810

[Term]
id: MONDO:0015885
name: rare insulin-resistance syndrome
def: "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." [NCIT:C113169]
comment: Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181368"}
synonym: "insulin Resistance syndrome" EXACT [NCIT:C113169]
xref: NCIT:C113169 {source="MONDO:equivalentTo"}
xref: Orphanet:181368 {source="MONDO:equivalentTo"}
xref: UMLS:C3714619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:181368"}
is_a: MONDO:0005015 {source="MONDO:cjm", source="Orphanet:181368"} ! diabetes mellitus (disease)
relationship: excluded_subClassOf MONDO:0015967 {source="Orphanet:181368"} ! monogenic diabetes
relationship: has_modifier MONDO:0021136 {source="MONDO:0015122"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714619
property_value: exactMatch NCIT:C113169
property_value: exactMatch Orphanet:181368
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015886
name: obsolete rare diabetes mellitus type 1
def: "Any of the forms of type 1 diabetes mellitus that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181371"}
synonym: "rare insulin-dependent diabetes mellitus" EXACT [Orphanet:181371]
synonym: "rare type 1 diabetes mellitus" EXACT [MONDO:patterns/rare]
xref: Orphanet:181371 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181371
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005147
consider: UMLS:C0011854 {source="Orphanet:181371"}

[Term]
id: MONDO:0015887
name: rare diabetes mellitus type 2
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181376"}
synonym: "rare insulin-independent diabetes mellitus" EXACT [Orphanet:181376]
xref: Orphanet:181376 {source="MONDO:equivalentTo"}
is_a: MONDO:0005015 {source="MONDOLEX:0015887", source="Orphanet:181376"} ! diabetes mellitus (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015122"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011860
property_value: exactMatch Orphanet:181376
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015888
name: other rare diabetes mellitus
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181381"}
xref: Orphanet:181381 {source="MONDO:equivalentTo"}
xref: UMLS:CN226773 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005015 {source="MONDOLEX:0015888", source="Orphanet:181381"} ! diabetes mellitus (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015122"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226773
property_value: exactMatch Orphanet:181381

[Term]
id: MONDO:0015889
name: rare hypothalamic or pituitary disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181384"}
xref: Orphanet:181384 {source="MONDO:equivalentTo"}
xref: UMLS:CN200503 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:181384"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200503
property_value: exactMatch Orphanet:181384
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015890
name: rare disorder with congenital hypogonadotropic hypogonadism
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181387"}
synonym: "rare disorder with hypogonadotropic hypogonadism" RELATED [Orphanet:181387]
synonym: "rare disorder with secondary hypogonadism" EXACT [Orphanet:181387]
xref: Orphanet:181387 {source="MONDO:equivalentTo"}
is_a: MONDO:0015770 {source="MONDOLEX:0015890", source="Orphanet:181387"} ! congenital hypogonadotropic hypogonadism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271623
property_value: exactMatch Orphanet:181387
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015891
name: hypogonadotropic hypogonadism associated with other endocrinopathies
subset: ordo_group_of_disorders {source="Orphanet:181390"}
xref: Orphanet:181390 {source="MONDO:equivalentTo"}
is_a: MONDO:0015770 {source="Orphanet:181390"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018398 {source="Orphanet:181390"} ! female infertility due to a congenital hypogonadotropic hypogonadism
property_value: exactMatch Orphanet:181390

[Term]
id: MONDO:0015892
name: growth hormone insensitivity syndrome
def: "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms)." [Orphanet:181393]
subset: ordo_group_of_disorders {source="Orphanet:181393"}
synonym: "GHIS" EXACT [Orphanet:181393]
synonym: "Growth hormone insensitivity syndromes" EXACT [NCIT:C129867]
synonym: "short stature due to a defect in growth hormone receptor or post-receptor pathway" EXACT [Orphanet:181393]
xref: GARD:0003924 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E34.3 {source="Orphanet:181393", source="ORDO:181393/attributed", source="ORDO:181393/ntbt"}
xref: NCIT:C129867 {source="MONDO:kboom-pr-0.86/0.70/0.24", source="MONDO:equivalentTo"}
xref: Orphanet:181393 {source="MONDO:equivalentTo"}
xref: UMLS:C0271568 {source="Orphanet:181393", source="ORDO:181393/e", source="MONDO:equivalentTo", source="NCIT:C129867"}
xref: UMLS:C4318479 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN200504 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0015892", source="NCIT:C129867"} ! syndromic disease
is_a: MONDO:0015514 {source="Orphanet:181393"} ! genetic endocrine growth disease
is_a: MONDO:0015968 {source="Orphanet:181393"} ! rare genetic hypothalamic or pituitary disease
is_a: MONDO:0019590 {source="Orphanet:181393"} ! rare endocrine growth disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4318479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200504
property_value: exactMatch NCIT:C129867
property_value: exactMatch Orphanet:181393

[Term]
id: MONDO:0015893
name: obsolete rare hypothyroidism
def: "Any of the forms of hypothyroidism that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181396"}
synonym: "rare hypothyroidism" EXACT [MONDO:patterns/rare]
xref: Orphanet:181396 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181396
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005420
consider: UMLS:C0020676 {source="Orphanet:181396"}

[Term]
id: MONDO:0015894
name: obsolete rare hyperthyroidism
def: "Any of the forms of hyperthyroidism that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181399"}
synonym: "rare hyperthyroidism" EXACT [MONDO:patterns/rare]
xref: Orphanet:181399 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181399
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004425
consider: ICD10:E05.0 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.1 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.2 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.3 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.4 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.5 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.8 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: ICD10:E05.9 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"}
consider: UMLS:C0020550 {source="Orphanet:181399"}

[Term]
id: MONDO:0015895
name: syndrome with hypoparathyroidism
subset: ordo_group_of_disorders {source="Orphanet:181402"}
xref: Orphanet:181402 {source="MONDO:equivalentTo"}
xref: UMLS:CN200505 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0016165 {source="Orphanet:181402"} ! genetic hypoparathyroidism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200505
property_value: exactMatch Orphanet:181402

[Term]
id: MONDO:0015896
name: obsolete rare hypoparathyroidism
def: "Rare hypoparathyroidism." []
subset: clingen
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181405"}
synonym: "rare hypoparathyroidism" EXACT [MONDO:patterns/rare]
xref: Orphanet:181405 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181405
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001220
consider: ICD10:E20.0 {source="Orphanet:181405", source="ORDO:181405/btnt"}
consider: ICD10:E20.1 {source="Orphanet:181405", source="MONDO:superClassOf", source="ORDO:181405/btnt"}
consider: ICD10:E20.8 {source="Orphanet:181405", source="ORDO:181405/btnt"}
consider: ICD10:E20.9 {source="Orphanet:181405", source="ORDO:181405/btnt"}
consider: UMLS:C0020626 {source="Orphanet:181405"}

[Term]
id: MONDO:0015897
name: obsolete rare hyperparathyroidism
def: "Rare hyperparathyroidism." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181408"}
synonym: "rare hyperparathyroidism" EXACT [MONDO:patterns/rare]
xref: Orphanet:181408 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181408
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001741
consider: ICD10:E21.0 {source="Orphanet:181408", source="ORDO:181408/btnt"}
consider: ICD10:E21.1 {source="Orphanet:181408", source="ORDO:181408/btnt"}
consider: ICD10:E21.2 {source="Orphanet:181408", source="ORDO:181408/btnt"}
consider: ICD10:E21.3 {source="Orphanet:181408", source="ORDO:181408/btnt"}
consider: UMLS:C0020502 {source="MONDO:subClassOf", source="Orphanet:181408"}

[Term]
id: MONDO:0015898
name: adrenogenital syndrome
def: "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children." [MESH:D047808]
subset: ordo_group_of_disorders {source="Orphanet:181412"}
synonym: "adrenogenital disorder" EXACT []
synonym: "adrenogenital syndrome" EXACT []
synonym: "androgenital syndrome" EXACT []
synonym: "congenital adrenal hyperplasia" RELATED [https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia]
xref: ICD9:255.2 {source="linkedlifedata"}
xref: MedDRA:10061630 {source="Orphanet:181412", source="ORDO:181412/e"}
xref: MESH:D047808 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:181412", source="ORDO:181412/e"}
xref: Orphanet:181412 {source="MONDO:equivalentTo"}
xref: SCTID:267395000 {source="MONDO:equivalentTo"}
xref: UMLS:C0302280 {source="MONDO:equivalentTo", source="Orphanet:181412", source="ORDO:181412/e"}
xref: UMLS:CN200506 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005495 {source="Orphanet:181412", source="indirect", source="linkedlifedata"} ! adrenal gland disease
is_a: MONDO:0045012 ! steroid metabolism disease
relationship: excluded_subClassOf MONDO:0015971 {source="Orphanet:181412"} ! obsolete rare genetic adrenal disease
property_value: exactMatch http://identifiers.org/meddra/10061630
property_value: exactMatch http://identifiers.org/mesh/D047808
property_value: exactMatch http://identifiers.org/snomedct/267395000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200506
property_value: exactMatch Orphanet:181412

[Term]
id: MONDO:0015899
name: obsolete rare primary hyperaldosteronism
def: "Any of the forms of primary aldosteronism that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181415"}
synonym: "rare Conn syndrome" EXACT []
synonym: "rare Conn's syndrome" EXACT []
synonym: "rare primary aldosteronism" EXACT [MONDO:patterns/rare, Orphanet:181415]
xref: Orphanet:181415 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181415
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001422
consider: ICD10:E26.0 {source="MONDO:subClassOf", source="Orphanet:181415", source="ORDO:181415/ntbt"}
consider: UMLS:C1384514 {source="Orphanet:181415"}

[Term]
id: MONDO:0015900
name: hypoaldosteronism disease
comment: Editor note: we place the GARD class here as it is implicitly rare
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:181419"}
synonym: "hypoaldosteronism" RELATED [GARD:0002874]
synonym: "rare hypoaldosteronism" EXACT [Orphanet:181419]
xref: GARD:0002874 {source="MONDO:equivalentTo"}
xref: ICD10:E27.4 {source="Orphanet:181419", source="ORDO:181419/ntbt"}
xref: MESH:D006994 {source="MONDO:equivalentTo"}
xref: Orphanet:181419 {source="MONDO:equivalentTo"}
xref: SCTID:60086000 {source="MONDO:equivalentTo"}
xref: UMLS:C0020595 {source="GARD:0002874", source="Orphanet:181419", source="MONDO:equivalentTo"}
is_a: MONDO:0005495 {source="Orphanet:181419"} ! adrenal gland disease
property_value: exactMatch http://identifiers.org/mesh/D006994
property_value: exactMatch http://identifiers.org/snomedct/60086000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020595
property_value: exactMatch Orphanet:181419

[Term]
id: MONDO:0015901
name: obsolete rare inherited hyperlipidemia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181422"}
synonym: "rare hyperlipidemia" RELATED [Orphanet:181422]
xref: Orphanet:181422 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:181422
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021187
consider: ICD10:E78.0 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD10:E78.1 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD10:E78.2 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD10:E78.3 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD10:E78.4 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD10:E78.5 {source="ORDO:181422/btnt", source="MONDO:relatedTo", source="ORDO:181422/specific", source="Orphanet:181422"}
consider: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"}
consider: UMLS:C0020473 {source="MONDO:relatedTo", source="Orphanet:181422"}

[Term]
id: MONDO:0015902
name: major hypertriglyceridemia
def: "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." [Orphanet:181425]
subset: ordo_group_of_disorders {source="Orphanet:181425"}
xref: ICD10:E78.1 {source="ORDO:181425/attributed", source="ORDO:181425/ntbt", source="Orphanet:181425"}
xref: Orphanet:181425 {source="MONDO:equivalentTo"}
is_a: MONDO:0021187 {source="Orphanet:181425"} ! hyperlipidemia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015901"} ! rare
property_value: exactMatch Orphanet:181425

[Term]
id: MONDO:0015903
name: hyperalphalipoproteinemia
def: "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." [NCIT:C128806]
subset: ordo_group_of_disorders {source="Orphanet:181428"}
synonym: "HALP1" EXACT [NCIT:C128806]
xref: ICD10:E78.4 {source="Orphanet:181428", source="ORDO:181428/attributed", source="ORDO:181428/ntbt"}
xref: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C128806 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.70/1.78"}
xref: Orphanet:181428 {source="MONDO:equivalentTo"}
xref: SCTID:238080004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0342883 {source="ORDO:181428/e", source="Orphanet:181428", source="MONDO:equivalentTo", source="NCIT:C128806"}
is_a: MONDO:0021187 {source="Orphanet:181428"} ! hyperlipidemia (disease)
is_a: MONDO:0037748 {source="NCIT:C128806"} ! hyperlipoproteinemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0015901"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/238080004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342883
property_value: exactMatch NCIT:C128806
property_value: exactMatch Orphanet:181428

[Term]
id: MONDO:0015904
name: obsolete rare hypolipidemia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181431"}
xref: Orphanet:181431 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226783
property_value: exactMatch Orphanet:181431
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001
consider: ICD10:E78.6 {source="ORDO:181431/attributed", source="ORDO:181431/ntbt", source="Orphanet:181431"}

[Term]
id: MONDO:0015905
name: syndromic dyslipidemia
def: "A inherited lipid metabolism disorder that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:181437"}
synonym: "complex dyslipidemia" EXACT []
synonym: "rare syndromic dyslipidemia" RELATED [Orphanet:181437]
synonym: "syndrome associated with inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with inherited lipid metabolism disorder" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:181437 {source="MONDO:equivalentTo"}
xref: SCTID:109041000119107 {source="MONDO:equivalentTo"}
xref: UMLS:C3875286 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:181437"} ! inherited lipid metabolism disorder
intersection_of: MONDO:0002525 ! inherited lipid metabolism disorder
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015123"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/109041000119107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3875286
property_value: exactMatch Orphanet:181437

[Term]
id: MONDO:0015906
name: obsolete rare disorder with hypergonadotropic hypogonadism
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:181441"}
synonym: "rare disorder with primary hypogonadism" EXACT [Orphanet:181441]
xref: Orphanet:181441 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226785 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226785
property_value: exactMatch Orphanet:181441
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015907
name: epimetaphyseal skeletal dysplasia
subset: gard_rare {source="GARD:0002176"}
subset: ordo_malformation_syndrome {source="Orphanet:1819"}
xref: GARD:0002176 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="Orphanet:1819", source="ORDO:1819/attributed", source="ORDO:1819/ntbt"}
xref: Orphanet:1819 {source="MONDO:equivalentTo"}
is_a: MONDO:0019693 {source="Orphanet:1819"} ! multiple metaphyseal dysplasia
property_value: exactMatch Orphanet:1819
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia xsd:anyURI {source="GARD:0002176"}

[Term]
id: MONDO:0015908
name: chromomycosis
def: "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." [Orphanet:182]
comment: Editor note: check cutaneous vs subcutaneous
subset: ordo_disease {source="Orphanet:182"}
synonym: "Chromoblastomycoses" RELATED [MESH:D002862]
synonym: "chromoblastomycosis" EXACT [MONDO:0005702, Orphanet:182]
synonym: "Chromomycoses" RELATED [MESH:D002862]
synonym: "Chromomycosis" EXACT [DOID:1562, MTHICD9_2006:117.2]
synonym: "chromomycosis" EXACT [MESH:D002862]
synonym: "dermatitis Verrucosa" RELATED [MESH:D002862]
synonym: "mossy foot disease" EXACT [DOID:1562]
xref: COHD:437796 {source="MONDO:equivalentTo"}
xref: DOID:1562 {source="EFO:0007207", source="MONDO:equivalentTo"}
xref: EFO:0007207 {source="MONDO:equivalentTo"}
xref: GARD:0001319 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B43.0 {source="ORDO:182/btnt", source="Orphanet:182"}
xref: ICD10:B43.1 {source="ORDO:182/btnt", source="Orphanet:182"}
xref: ICD10:B43.2 {source="ORDO:182/btnt", source="Orphanet:182"}
xref: ICD10:B43.8 {source="ORDO:182/btnt", source="Orphanet:182"}
xref: ICD10:B43.9 {source="DOID:1562", source="ORDO:182/btnt", source="Orphanet:182"}
xref: ICD9:117.2 {source="DOID:1562", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008803 {source="ORDO:182/e", source="Orphanet:182"}
xref: MESH:D002862 {source="DOID:1562", source="EFO:0007207", source="ORDO:182/e", source="MONDO:equivalentTo", source="Orphanet:182"}
xref: Orphanet:182 {source="MONDO:equivalentTo"}
xref: SCTID:187079000 {source="DOID:1562", source="MONDO:kboom-pr-0.89/0.77/0.14", source="MONDO:equivalentTo"}
xref: UMLS:C0008582 {source="DOID:1562", source="ORDO:182/e", source="MONDO:equivalentTo", source="Orphanet:182", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:C3245522 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000255 {source="DOID:1562", source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! subcutaneous mycosis
is_a: MONDO:0002040 {source="MESH:D002862"} ! dermatomycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187082005
property_value: closeMatch http://identifiers.org/snomedct/187490000
property_value: closeMatch http://identifiers.org/snomedct/238441002
property_value: closeMatch http://identifiers.org/snomedct/7255004
property_value: exactMatch DOID:1562
property_value: exactMatch http://identifiers.org/meddra/10008803
property_value: exactMatch http://identifiers.org/mesh/D002862
property_value: exactMatch http://identifiers.org/snomedct/187079000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3245522
property_value: exactMatch Orphanet:182

[Term]
id: MONDO:0015909
name: aplastic anemia
def: "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:182040"}
xref: COHD:137829 {source="MONDO:equivalentTo"}
xref: DOID:12449 {source="MONDO:equivalentTo"}
xref: ICD10:D61.0 {source="ORDO:182040/specific", source="Orphanet:182040", source="MONDO:superClassOf", source="ORDO:182040/btnt"}
xref: ICD10:D61.1 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"}
xref: ICD10:D61.2 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"}
xref: ICD10:D61.3 {source="ORDO:182040/specific", source="Orphanet:182040", source="MONDO:superClassOf", source="ORDO:182040/btnt"}
xref: ICD10:D61.8 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"}
xref: ICD10:D61.9 {source="DOID:12449", source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"}
xref: ICD9:284.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:284.9 {source="DOID:12449", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D000741 {source="DOID:12449", source="MONDO:equivalentTo"}
xref: NCIT:C2870 {source="DOID:12449", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.78/1.87"}
xref: Orphanet:182040 {source="MONDO:equivalentTo"}
xref: SCTID:306058006 {source="DOID:12449", source="MONDO:kboom-pr-0.94/0.75/1.83", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:182040"} ! anemia (disease)
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: closeMatch http://identifiers.org/snomedct/154807001
property_value: closeMatch http://identifiers.org/snomedct/191233006
property_value: closeMatch http://identifiers.org/snomedct/191258001
property_value: closeMatch http://identifiers.org/snomedct/267560004
property_value: closeMatch http://identifiers.org/snomedct/304132006
property_value: closeMatch http://identifiers.org/snomedct/305047005
property_value: closeMatch http://identifiers.org/snomedct/79000000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002874
property_value: exactMatch DOID:12449
property_value: exactMatch http://identifiers.org/mesh/D000741
property_value: exactMatch http://identifiers.org/snomedct/306058006
property_value: exactMatch NCIT:C2870
property_value: exactMatch Orphanet:182040

[Term]
id: MONDO:0015910
name: obsolete rare constitutional hemolytic anemia
comment: Editor note: todo add disjointness axiom https://github.com/monarch-initiative/mondo/issues/133
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182043"}
synonym: "rare familial constitutional hemolytic anemia" RELATED [MONDO:cjm]
synonym: "rare genetic constitutional hemolytic anemia" RELATED [MONDO:cjm]
xref: Orphanet:182043 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226786 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226786
property_value: exactMatch Orphanet:182043
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664

[Term]
id: MONDO:0015911
name: obsolete rare acquired hemolytic anemia
def: "Hemolytic anemia, the cause of which is not present at birth." [NCIT:C34377]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182047"}
synonym: "Acquired hemolytic Anemia" EXACT [NCIT:C34377]
xref: NCIT:C34377 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182047 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:4854004 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/snomedct/4854004
property_value: exactMatch NCIT:C34377
property_value: exactMatch Orphanet:182047
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664
consider: ICD10:D59.0 {source="MONDO:relatedTo", source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.1 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.2 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.3 {source="MONDO:relatedTo", source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.4 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.5 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.6 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.8 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: ICD10:D59.9 {source="ORDO:182047/btnt", source="Orphanet:182047"}
consider: UMLS:C0002879 {source="Orphanet:182047"}

[Term]
id: MONDO:0015912
name: MYH-9 related disease
def: "MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." [Orphanet:182050]
subset: gard_rare
subset: ordo_disease {source="Orphanet:182050"}
synonym: "Epstein syndrome" RELATED [GARD:0000180]
synonym: "Fechtner syndrome" RELATED [GARD:0000180]
synonym: "May-Hegglin anomaly" RELATED [GARD:0000180]
synonym: "MYH9 related disorders" RELATED [GARD:0000180]
synonym: "MYH9 related thrombocytopenia" RELATED [GARD:0000180]
synonym: "MYH9-RD" EXACT [Orphanet:182050]
synonym: "MYH9-related disease" RELATED [Orphanet:182050]
synonym: "MYH9-related disorder" EXACT [Orphanet:182050]
synonym: "MYH9-related syndrome" EXACT [Orphanet:182050]
synonym: "MYH9-related syndromic thrombocytopenia" EXACT [Orphanet:182050]
synonym: "Sebastian platelet syndrome" RELATED [GARD:0000180]
synonym: "Sebastian syndrome" RELATED [GARD:0000180]
xref: DOID:0060651 {source="MONDO:equivalentTo"}
xref: GARD:0000180 {source="MONDO:equivalentTo"}
xref: ICD10:D69.4 {source="DOID:0060651", source="Orphanet:182050", source="ORDO:182050/attributed", source="ORDO:182050/ntbt"}
xref: ICD9:287.33 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:182050 {source="DOID:0060651", source="MONDO:equivalentTo"}
xref: SCTID:712922002 {source="MONDO:kboom-pr-1.00/0.79/7.86", source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:182050"} ! primary glomerular disease
is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854520
property_value: exactMatch DOID:0060651
property_value: exactMatch http://identifiers.org/snomedct/712922002
property_value: exactMatch Orphanet:182050
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia xsd:anyURI {source="GARD:0000180"}

[Term]
id: MONDO:0015913
name: rare thrombotic disease of hematologic origin
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182054"}
xref: Orphanet:182054 {source="MONDO:equivalentTo"}
xref: UMLS:CN200513 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000831 {source="MONDO:cjm"} ! thrombotic disease
is_a: MONDO:0001531 {source="Orphanet:182054"} ! blood coagulation disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200513
property_value: exactMatch Orphanet:182054
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015914
name: primary orthostatic hypotension
def: "Primary orthostatic hypotension is a rare type of orthostatic hypotension . It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system , such as multiple system atrophy , young-onset Parkinson's disease , pure autonomic failure , dopamine beta-hydroxylase deficiency , familial dysautonomia , and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." [https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension]
subset: gard_rare {source="GARD:0012959"}
subset: ordo_group_of_disorders {source="Orphanet:182058"}
synonym: "neurogenic orthostatic hypotension" RELATED [GARD:0012959]
xref: GARD:0012959 {source="MONDO:equivalentTo"}
xref: Orphanet:182058 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:182058"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch Orphanet:182058
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension xsd:anyURI {source="GARD:0012959"}

[Term]
id: MONDO:0015915
name: cerebellar malformation
subset: ordo_group_of_disorders {source="Orphanet:182061"}
xref: Orphanet:182061 {source="MONDO:equivalentTo"}
is_a: MONDO:0020133 {source="Orphanet:182061"} ! posterior fossa malformation
property_value: exactMatch Orphanet:182061

[Term]
id: MONDO:0015916
name: rare neuroinflammatory or neuroimmunological disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182064"}
xref: Orphanet:182064 {source="MONDO:equivalentTo"}
xref: UMLS:CN200514 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:182064"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200514
property_value: exactMatch Orphanet:182064
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015917
name: malignant glioma
def: "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma." [NCIT:C4822]
subset: ordo_group_of_disorders {source="Orphanet:182067"}
synonym: "glial cell tumor" EXACT [CSP2005:2012-6589, DOID:3070]
synonym: "glioma" BROAD [Orphanet:182067]
synonym: "glioma, malignant" EXACT [DOID:3070, MONDO:patterns/malignant, NCIT:C4822]
synonym: "high grade glioma" EXACT [NCIT:C4822]
synonym: "high-grade glioma" EXACT [NCIT:C4822]
synonym: "malignant glial neoplasm" EXACT [NCIT:C4822]
synonym: "malignant glial tumor" EXACT [NCIT:C4822]
synonym: "malignant glioma" EXACT [NCIT:C4822]
synonym: "malignant neuroglial neoplasm" EXACT [NCIT:C4822]
synonym: "malignant neuroglial tumor" EXACT [DOID:3070, NCIT:C4822]
synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059]
xref: DOID:3070 {source="MONDO:equivalentTo"}
xref: ICDO:9380/3 {source="NCIT:C4822"}
xref: KEGG:05214 {source="MONDO:equivalentTo", source="DOID:3070"}
xref: MedDRA:10018338 {source="ORDO:182067/e", source="Orphanet:182067"}
xref: NCIT:C4822 {source="MONDO:kboom-pr-0.93/0.79/0.83", source="MONDO:equivalentTo", source="DOID:3070"}
xref: OMIMPS:137800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="MONDO:equivalentTo", source="DOID:3070"}
xref: UMLS:C0555198 {source="MONDO:equivalentTo", source="DOID:3070", source="NCIT:C4822"}
is_a: MONDO:0002714 {source="NCIT:C4822"} ! central nervous system cancer
is_a: MONDO:0020665 ! high grade malignant neoplasm
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4822", source="OWLReasoner:2017"} ! glioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016679"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/115240006
property_value: closeMatch http://identifiers.org/snomedct/189908003
property_value: closeMatch http://identifiers.org/snomedct/189909006
property_value: closeMatch http://identifiers.org/snomedct/189926000
property_value: closeMatch http://identifiers.org/snomedct/269505000
property_value: closeMatch http://identifiers.org/snomedct/416500007
property_value: closeMatch http://identifiers.org/snomedct/74532006
property_value: exactMatch DOID:3070
property_value: exactMatch http://identifiers.org/meddra/10018338
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0555198
property_value: exactMatch NCIT:C4822
property_value: exactMatch Orphanet:182067

[Term]
id: MONDO:0015918
name: obsolete rare neurodegenerative disease
def: "Rare neurodegenerative disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182070"}
synonym: "rare neurodegenerative disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:182070 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:182070
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005559
consider: UMLS:C0524851 {source="Orphanet:182070"}

[Term]
id: MONDO:0015919
name: syndromic neurometabolic disease with non-X-linked intellectual disability
subset: ordo_group_of_disorders {source="Orphanet:182073"}
xref: Orphanet:182073 {source="MONDO:equivalentTo"}
xref: UMLS:CN200517 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:182073"} ! syndromic intellectual disability
is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease
disjoint_from: MONDO:0020119 ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200517
property_value: exactMatch Orphanet:182073

[Term]
id: MONDO:0015920
name: syndromic neurometabolic disease with X-linked intellectual disability
subset: ordo_group_of_disorders {source="Orphanet:182076"}
xref: Orphanet:182076 {source="MONDO:equivalentTo"}
xref: UMLS:CN200518 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="MONDO:Redundant", source="MONDO:cjm"} ! neurometabolic disease
is_a: MONDO:0020119 {source="MONDO:Redundant", source="Orphanet:182076"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0019058 ! neurometabolic disease
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200518
property_value: exactMatch Orphanet:182076

[Term]
id: MONDO:0015921
name: ARX-related epileptic encephalopathy
subset: ordo_group_of_disorders {source="Orphanet:182079"}
xref: Orphanet:182079 {source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="Orphanet:182079"} ! monogenic epilepsy
property_value: exactMatch Orphanet:182079

[Term]
id: MONDO:0015922
name: channelopathy with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:182083"}
xref: Orphanet:182083 {source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="Orphanet:182083"} ! monogenic epilepsy
is_a: MONDO:0021016 ! channelopathy
property_value: exactMatch Orphanet:182083

[Term]
id: MONDO:0015923
name: acquired peripheral neuropathy
def: "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:182086"}
synonym: "acquired peripheral neuropathy" EXACT [MONDO:patterns/acquired]
xref: Orphanet:182086 {source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="Orphanet:182086"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021136 {source="MONDO:0020126"} ! rare
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:182086

[Term]
id: MONDO:0015924
name: pulmonary arterial hypertension
def: "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term)." [Orphanet:182090]
subset: ordo_group_of_disorders {source="Orphanet:182090"}
synonym: "idiopathic pulmonary hypertension" RELATED [GARD:0007501]
synonym: "PAH" EXACT [Orphanet:182090]
synonym: "PPH" RELATED [GARD:0007501]
xref: GARD:0007501 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MedDRA:10064911 {source="ORDO:182090/e", source="Orphanet:182090"}
xref: Orphanet:182090 {source="MONDO:equivalentTo"}
xref: SCTID:11399002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.31"}
xref: UMLS:C2973725 {source="MONDO:equivalentTo", source="Orphanet:182090"}
xref: UMLS:CN200519 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005149 {source="Orphanet:182090"} ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1701938
property_value: exactMatch http://identifiers.org/meddra/10064911
property_value: exactMatch http://identifiers.org/mesh/C536282
property_value: exactMatch http://identifiers.org/snomedct/11399002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2973725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200519
property_value: exactMatch Orphanet:182090

[Term]
id: MONDO:0015925
name: interstitial lung disease
def: "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." [MESH:D017563]
subset: ordo_group_of_disorders {source="Orphanet:182095"}
synonym: "ILD" EXACT [CSP2005:4007-0072, DOID:3082, Orphanet:182095]
synonym: "interstitial lung disease" EXACT [MONDO:0005370]
xref: COHD:4119786 {source="MONDO:equivalentTo"}
xref: DOID:3082 {source="EFO:0004244", source="MONDO:equivalentTo"}
xref: EFO:0004244 {source="MONDO:equivalentTo"}
xref: GARD:0013336 {source="MONDO:equivalentTo"}
xref: ICD10:J84.9 {source="DOID:3082"}
xref: MedDRA:10022611 {source="Orphanet:182095", source="ORDO:182095/e"}
xref: MESH:D017563 {source="EFO:0004244", source="Orphanet:182095", source="ORDO:182095/e", source="MONDO:equivalentTo", source="DOID:3082", source="MONDO:ontobio"}
xref: Orphanet:182095 {source="MONDO:equivalentTo"}
xref: SCTID:233703007 {source="EFO:0004244", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.91", source="DOID:3082"}
xref: UMLS:C0206062 {source="Orphanet:182095", source="ORDO:182095/e", source="MONDO:equivalentTo", source="DOID:3082"}
is_a: MONDO:0005275 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Redundant", source="linkedlifedata"} ! lung disease
property_value: closeMatch http://identifiers.org/snomedct/64667001
property_value: exactMatch DOID:3082
property_value: exactMatch http://identifiers.org/meddra/10022611
property_value: exactMatch http://identifiers.org/mesh/D017563
property_value: exactMatch http://identifiers.org/snomedct/233703007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206062
property_value: exactMatch Orphanet:182095

[Term]
id: MONDO:0015926
name: pneumoconiosis
def: "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis." [NCIT:C26861]
subset: ordo_group_of_disorders {source="Orphanet:182098"}
synonym: "Black lung disease" RELATED [GARD:0008356]
synonym: "coal worker's pneumoconiosis" RELATED [GARD:0008356]
xref: COHD:259044 {source="MONDO:equivalentTo"}
xref: DOID:10316 {source="MONDO:equivalentTo"}
xref: GARD:0008356 {source="MONDO:equivalentTo"}
xref: ICD10:J64 {source="DOID:10316"}
xref: ICD9:505 {source="DOID:10316", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10035653 {source="ORDO:182098/e", source="Orphanet:182098"}
xref: MESH:D011009 {source="ORDO:182098/e", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098"}
xref: NCIT:C26861 {source="NCIT:C26861", source="DOID:10316", source="MONDO:equivalentTo"}
xref: Orphanet:182098 {source="MONDO:equivalentTo"}
xref: SCTID:40122008 {source="DOID:10316", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0032273 {source="NCIT:C26861", source="ORDO:182098/e", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098"}
is_a: MONDO:0017027 {source="Orphanet:182098"} ! primary interstitial lung disease specific to adulthood
property_value: closeMatch http://identifiers.org/snomedct/155587002
property_value: closeMatch http://identifiers.org/snomedct/155591007
property_value: closeMatch http://identifiers.org/snomedct/196004000
property_value: closeMatch http://identifiers.org/snomedct/196016006
property_value: closeMatch http://identifiers.org/snomedct/266401007
property_value: exactMatch DOID:10316
property_value: exactMatch http://identifiers.org/meddra/10035653
property_value: exactMatch http://identifiers.org/mesh/D011009
property_value: exactMatch http://identifiers.org/snomedct/40122008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032273
property_value: exactMatch NCIT:C26861
property_value: exactMatch Orphanet:182098

[Term]
id: MONDO:0015927
name: idiopathic eosinophilic pneumonia
subset: ordo_group_of_disorders {source="Orphanet:182101"}
xref: ICD10:J82 {source="ORDO:182101/ntbt", source="Orphanet:182101"}
xref: Orphanet:182101 {source="MONDO:equivalentTo"}
xref: SCTID:708031000 {source="MONDO:equivalentTo"}
xref: UMLS:C3872845 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017033 {source="Orphanet:182101"} ! primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
property_value: exactMatch http://identifiers.org/snomedct/708031000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3872845
property_value: exactMatch Orphanet:182101

[Term]
id: MONDO:0015928
name: secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
subset: ordo_group_of_disorders {source="Orphanet:182104"}
synonym: "CTD-ILD" EXACT [Orphanet:182104]
synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [Orphanet:182104]
xref: Orphanet:182104 {source="MONDO:equivalentTo"}
xref: UMLS:CN200522 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017035 {source="Orphanet:182104"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200522
property_value: exactMatch Orphanet:182104

[Term]
id: MONDO:0015929
name: thoracic malformation
subset: ordo_group_of_disorders {source="Orphanet:182108"}
xref: Orphanet:182108 {source="MONDO:equivalentTo"}
is_a: MONDO:0020001 {source="Orphanet:182108"} ! respiratory or thoracic malformation
property_value: exactMatch Orphanet:182108

[Term]
id: MONDO:0015930
name: respiratory malformation
subset: ordo_group_of_disorders {source="Orphanet:182111"}
xref: Orphanet:182111 {source="MONDO:equivalentTo"}
is_a: MONDO:0020001 {source="Orphanet:182111"} ! respiratory or thoracic malformation
property_value: exactMatch Orphanet:182111

[Term]
id: MONDO:0015931
name: obsolete rare urogenital tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182114"}
xref: Orphanet:182114 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200523 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200523
property_value: exactMatch Orphanet:182114
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0015932
name: non-syndromic urogenital tract malformation of female
def: "A non-syndromic urogenital tract malformation that involves the female organism." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:182117"}
synonym: "female organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "isolated urogenital tract malformation of female" RELATED [MONDO:DesignPattern]
synonym: "non-syndromic urogenital tract malformation of female organism" EXACT [MONDO:design_pattern]
synonym: "nonsyndromic urogenital tract malformation of female" EXACT [MONDO:DesignPattern]
xref: Orphanet:182117 {source="MONDO:equivalentTo"}
is_a: MONDO:0002263 ! female reproductive system disease
is_a: MONDO:0015619 {source="MONDO:Redundant", source="MONDOLEX:0015932", source="Orphanet:182117"} ! non-syndromic urogenital tract malformation
property_value: exactMatch Orphanet:182117

[Term]
id: MONDO:0015933
name: non-syndromic urogenital tract malformation of male
def: "A non-syndromic urogenital tract malformation that involves the male organism." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:182121"}
synonym: "isolated urogenital tract malformation of male" RELATED [MONDO:DesignPattern]
synonym: "male organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic urogenital tract malformation of male organism" EXACT [MONDO:design_pattern]
synonym: "nonsyndromic urogenital tract malformation of male" EXACT [MONDO:DesignPattern]
xref: Orphanet:182121 {source="MONDO:equivalentTo"}
is_a: MONDO:0003150 ! male reproductive system disease
is_a: MONDO:0015619 {source="MONDO:Redundant", source="MONDOLEX:0015933", source="Orphanet:182121"} ! non-syndromic urogenital tract malformation
property_value: exactMatch Orphanet:182121

[Term]
id: MONDO:0015934
name: non-syndromic urogenital tract malformation of male and female
comment: Editor note: consider obsoleting as semantics not clear
subset: ordo_group_of_disorders {source="Orphanet:182124"}
synonym: "isolated urogenital tract malformation of male and female" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic urogenital tract malformation of male and female" EXACT [MONDO:DesignPattern]
xref: Orphanet:182124 {source="MONDO:equivalentTo"}
is_a: MONDO:0015619 {source="MONDOLEX:0015934", source="Orphanet:182124"} ! non-syndromic urogenital tract malformation
property_value: exactMatch Orphanet:182124

[Term]
id: MONDO:0015935
name: extragonadal germinoma
subset: ordo_disease {source="Orphanet:182127"}
xref: MedDRA:10018207 {source="Orphanet:182127", source="ORDO:182127/e"}
xref: Orphanet:182127 {source="MONDO:equivalentTo"}
is_a: MONDO:0002598 ! germinoma (disease)
is_a: MONDO:0003113 ! extragonadal germ cell cancer
intersection_of: MONDO:0002598 ! germinoma (disease)
intersection_of: MONDO:0018201 ! extragonadal germ cell tumor
property_value: exactMatch http://identifiers.org/meddra/10018207
property_value: exactMatch http://identifiers.org/mesh/D018237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206660
property_value: exactMatch Orphanet:182127

[Term]
id: MONDO:0015936
name: obsolete rare tumor of endocrine glands
def: "A rare tumor that involves the endocrine gland." [MONDO:patterns/location]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182130"}
synonym: "endocrine gland rare tumor" EXACT [MONDO:patterns/location]
synonym: "tumor of endocrine glands" RELATED [Orphanet:182130]
xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:182130
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002082
consider: MedDRA:10061121 {source="Orphanet:182130", source="ORDO:182130/e"}
consider: UMLS:C0014132 {source="Orphanet:182130", source="ORDO:182130/e"}

[Term]
id: MONDO:0015937
name: rare inflammatory eye disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182214"}
xref: Orphanet:182214 {source="MONDO:equivalentTo"}
xref: UMLS:CN200527 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 ! eye disease
relationship: excluded_subClassOf MONDO:0015120 {source="Orphanet:182214"} ! obsolete rare acquired eye disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200527
property_value: exactMatch Orphanet:182214
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015938
name: systemic disease
def: "A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole." [https://en.wikipedia.org/wiki/Systemic_disease]
subset: ordo_group_of_disorders {source="Orphanet:182222"}
synonym: "multi-system disorder" EXACT []
synonym: "multisystem disorder" EXACT []
synonym: "rare systemic disease" RELATED [Orphanet:182222]
synonym: "systemic disorder" EXACT [MONDO:cjm]
xref: ICD9:799.89 {source="linkedlifedata"}
xref: NCIT:C9229 {source="MONDO:equivalentTo"}
xref: Orphanet:182222 {source="MONDO:equivalentTo"}
xref: SCTID:281867008 {source="MONDO:equivalentTo"}
xref: UMLS:C0442893 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020012 {source="Orphanet:182222"} ! systemic or rheumatic disease
property_value: exactMatch http://identifiers.org/snomedct/281867008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0442893
property_value: exactMatch NCIT:C9229
property_value: exactMatch Orphanet:182222

[Term]
id: MONDO:0015939
name: systemic autoimmune disease
def: "An autoimmune form of systemic disease." [MONDO:patterns/autoimmune]
subset: ordo_group_of_disorders {source="Orphanet:182228"}
synonym: "autoimmune systemic disease" EXACT []
xref: Orphanet:182228 {source="MONDO:equivalentTo"}
xref: UMLS:CN200529 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="MONDO:Redundant", source="MONDO:cjm"} ! autoimmune disease
is_a: MONDO:0015938 {source="MONDO:Redundant", source="Orphanet:182228"} ! systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200529
property_value: exactMatch Orphanet:182228

[Term]
id: MONDO:0015940
name: obsolete rare rheumatologic disease
def: "Any of the forms of rheumatologic disorder that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:182231"}
synonym: "rare rheumatologic disorder" EXACT [MONDO:cjm, MONDO:patterns/rare]
synonym: "rare rheumatological disease" EXACT [MONDO:cjm]
xref: Orphanet:182231 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200530 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200530
property_value: exactMatch Orphanet:182231
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005554

[Term]
id: MONDO:0015941
name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome
def: "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." [Orphanet:1825]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1825"}
synonym: "epiphyseal dysplasia hearing loss dysmorphism" RELATED [GARD:0002178]
synonym: "Finucane Kurtz Scott syndrome" RELATED [GARD:0002178]
synonym: "Finucane-Kurtz-Scott syndrome" EXACT [Orphanet:1825]
xref: GARD:0002178 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:1825/attributed", source="ORDO:1825/ntbt", source="Orphanet:1825"}
xref: Orphanet:1825 {source="GARD:0002178", source="MONDO:equivalentTo"}
xref: SCTID:766870005 {source="MONDO:equivalentTo"}
xref: UMLS:CN200532 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1825", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:1825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/766870005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200532
property_value: exactMatch Orphanet:1825
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism xsd:anyURI {source="GARD:0002178"}

[Term]
id: MONDO:0015942
name: frontometaphyseal dysplasia
def: "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." [Orphanet:1826]
subset: ordo_disease {source="Orphanet:1826"}
subset: prototype_pattern
synonym: "FMD" RELATED [MONDO:Lexical, OMIM:305620]
synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620]
xref: DC:0000731 {source="MONDO:equivalentTo"}
xref: GARD:0000826 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q78.5 {source="Orphanet:1826", source="ORDO:1826/attributed", source="ORDO:1826/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538064 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1826", source="ORDO:1826/e"}
xref: OMIMPS:305620 {source="MONDO:equivalentTo", source="DC:0000731"}
xref: Orphanet:1826 {source="OMIM:305620", source="MONDO:equivalentTo"}
xref: SCTID:62803002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0018233 {source="Orphanet:1826"} ! otopalatodigital syndrome spectrum disorder
is_a: MONDO:0020119 {source="Orphanet:1826"} ! X-linked syndromic intellectual disability
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1826"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/mesh/C538064
property_value: exactMatch http://identifiers.org/snomedct/62803002
property_value: exactMatch Orphanet:1826

[Term]
id: MONDO:0015943
name: eosinophilic granulomatosis with polyangiitis
def: "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." [Orphanet:183]
subset: ordo_disease {source="Orphanet:183"}
synonym: "allergic Angiitides" EXACT [MESH:D015267]
synonym: "allergic Angiitides, granulomatous" EXACT [MESH:D015267]
synonym: "allergic angiitis" EXACT [MESH:D015267]
synonym: "allergic angiitis and granulomatosis" EXACT [MESH:D015267]
synonym: "allergic angiitis, granulomatous" EXACT [MESH:D015267]
synonym: "allergic Granulomatoses" EXACT [MESH:D015267]
synonym: "allergic granulomatosis" EXACT [MESH:D015267, NCIT:C34481]
synonym: "allergic granulomatosis angiitis" EXACT [DOID:3049]
synonym: "allergic granulomatous and angiitis" EXACT [MESH:D015267]
synonym: "allergic granulomatous Angiitides" EXACT [MESH:D015267]
synonym: "allergic granulomatous angiitis" EXACT [DOID:3049, MESH:D015267, NCIT:C34481]
synonym: "Angiitides, allergic" EXACT [MESH:D015267]
synonym: "Angiitides, allergic granulomatous" EXACT [MESH:D015267]
synonym: "Angiitides, granulomatous allergic" EXACT [MESH:D015267]
synonym: "angiitis, allergic" EXACT [MESH:D015267]
synonym: "angiitis, allergic granulomatous" EXACT [MESH:D015267]
synonym: "angiitis, granulomatous allergic" EXACT [MESH:D015267]
synonym: "Churg Strauss syndrome" EXACT [MESH:D015267]
synonym: "Churg-Strauss syndrome" EXACT [MONDO:0005703, NCIT:C34481, Orphanet:183]
synonym: "Churg-Strauss vasculitis" EXACT [DOID:3049, MESH:D015267]
synonym: "EGPA" EXACT [Orphanet:183]
synonym: "eosinophilic granulomatous Vasculitides" EXACT [MESH:D015267]
synonym: "eosinophilic granulomatous vasculitis" EXACT [MESH:D015267]
synonym: "Granulomatoses, allergic" EXACT [MESH:D015267]
synonym: "granulomatosis, allergic" EXACT [MESH:D015267]
synonym: "granulomatous allergic Angiitides" EXACT [MESH:D015267]
synonym: "granulomatous allergic angiitis" EXACT [MESH:D015267, Orphanet:183]
synonym: "granulomatous Angiitides, allergic" EXACT [MESH:D015267]
synonym: "granulomatous angiitis, allergic" EXACT [MESH:D015267]
synonym: "granulomatous Vasculitides, eosinophilic" EXACT [MESH:D015267]
synonym: "granulomatous vasculitis, eosinophilic" EXACT [MESH:D015267]
synonym: "syndrome, Churg-Strauss" EXACT [MESH:D015267]
synonym: "Vasculitides, eosinophilic granulomatous" EXACT [MESH:D015267]
synonym: "vasculitis, Churg Strauss" EXACT [MESH:D015267]
synonym: "vasculitis, Churg-Strauss" EXACT [MESH:D015267]
synonym: "vasculitis, eosinophilic granulomatous" EXACT [MESH:D015267]
xref: DOID:3049 {source="MONDO:equivalentTo", source="EFO:0007208"}
xref: EFO:0007208 {source="MONDO:equivalentTo"}
xref: GARD:0005776 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0006111 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M30.1 {source="DOID:3049", source="ORDO:183/e", source="Orphanet:183"}
xref: MedDRA:10048594 {source="ORDO:183/e", source="Orphanet:183"}
xref: MESH:D015267 {source="DOID:3049", source="ORDO:183/e", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183"}
xref: NCIT:C34481 {source="DOID:3049", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:183 {source="MONDO:equivalentTo"}
xref: SCTID:82275008 {source="DOID:3049", source="MONDO:equivalentTo"}
xref: UMLS:C0008728 {source="NCIT:C34481", source="DOID:3049", source="ORDO:183/e", source="MONDO:equivalentTo", source="Orphanet:183"}
is_a: MONDO:0002254 {source="MONDOLEX:0015943", source="NCIT:C34481"} ! syndromic disease
is_a: MONDO:0012105 {source="https://github.com/monarch-initiative/mondo/issues/1214"} ! granulomatosis with polyangiitis
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:183"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0017952 {source="Orphanet:183"} ! non-familial rare disease with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:183"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/195362002
property_value: exactMatch DOID:3049
property_value: exactMatch http://identifiers.org/meddra/10048594
property_value: exactMatch http://identifiers.org/mesh/C531653
property_value: exactMatch http://identifiers.org/mesh/D015267
property_value: exactMatch http://identifiers.org/snomedct/82275008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008728
property_value: exactMatch NCIT:C34481
property_value: exactMatch Orphanet:183

[Term]
id: MONDO:0015944
name: axial mesodermal dysplasia spectrum
def: "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." [Orphanet:1834]
subset: gard_rare {source="GARD:0000213"}
subset: ordo_malformation_syndrome {source="Orphanet:1834"}
synonym: "blastogenesis defect" EXACT [Orphanet:1834]
synonym: "Russell Weaver Bull syndrome" RELATED [GARD:0000213]
synonym: "Russell-Weaver-Bull syndrome" EXACT [Orphanet:1834]
xref: GARD:0000213 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:1834/attributed", source="ORDO:1834/ntbt", source="Orphanet:1834"}
xref: MESH:C537790 {source="MONDO:equivalentTo", source="ORDO:1834/e", source="MONDO:ontobio", source="Orphanet:1834"}
xref: Orphanet:1834 {source="MONDO:equivalentTo"}
xref: SCTID:765755006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931613 {source="MONDO:equivalentTo", source="ORDO:1834/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1834"}
is_a: MONDO:0015246 {source="Orphanet:1834"} ! syndromic anorectal malformation
is_a: MONDO:0019721 {source="Orphanet:1834"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/C537790
property_value: exactMatch http://identifiers.org/snomedct/765755006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931613
property_value: exactMatch Orphanet:1834
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum xsd:anyURI {source="GARD:0000213"}

[Term]
id: MONDO:0015945
name: polymalformative genetic syndrome with increased risk of developing cancer
def: "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." [Orphanet:183422]
subset: ordo_group_of_disorders {source="Orphanet:183422"}
synonym: "PGSIRC" EXACT [MONDO:cjm]
xref: Orphanet:183422 {source="MONDO:equivalentTo"}
xref: UMLS:CN200541 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:183422"} ! hereditary neoplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200541
property_value: exactMatch Orphanet:183422

[Term]
id: MONDO:0015946
name: obsolete rare genetic epidermal disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183426"}
synonym: "genetic epidermal disorder" RELATED [Orphanet:183426]
xref: Orphanet:183426 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200542 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200542
property_value: exactMatch Orphanet:183426
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015947
name: inherited ichthyosis
def: "An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:183435"}
synonym: "congenital ichthyosis" RELATED []
synonym: "congenital ichthyosis of skin" EXACT []
synonym: "fish scale disease" RELATED []
synonym: "fish skin" RELATED []
synonym: "genetic ichthyosis" EXACT [Orphanet:183435]
synonym: "hereditary ichthyosis (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "ichthyosis congenita" RELATED []
synonym: "inherited genetic ichthyosis" EXACT [MONDO:cjm]
xref: COHD:134743 {source="MONDO:equivalentTo"}
xref: ICD10:Q80 {source="MONDO:equivalentTo"}
xref: ICD9:757.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10021202 {source="ORDO:183435/e", source="Orphanet:183435"}
xref: Orphanet:183435 {source="MONDO:equivalentTo"}
xref: SCTID:13059002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019269 {source="MONDO:Redundant", source="Orphanet:183435"} ! ichthyosis (disease)
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0019269 ! ichthyosis (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/meddra/10021202
property_value: exactMatch http://identifiers.org/snomedct/13059002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856562
property_value: exactMatch Orphanet:183435

[Term]
id: MONDO:0015948
name: obsolete rare genetic skin vascular disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183478"}
synonym: "genetic skin vascular disorder" RELATED [Orphanet:183478]
xref: Orphanet:183478 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200545 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200545
property_value: exactMatch Orphanet:183478
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015949
name: obsolete rare genetic subcutaneous tissue disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183484"}
synonym: "genetic subcutaneous tissue disorder" RELATED [Orphanet:183484]
xref: Orphanet:183484 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200546 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200546
property_value: exactMatch Orphanet:183484
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015950
name: inherited skin tumor
subset: ordo_group_of_disorders {source="Orphanet:183487"}
synonym: "genetic skin tumor" RELATED [Orphanet:183487]
xref: Orphanet:183487 {source="MONDO:equivalentTo"}
xref: UMLS:CN200547 {source="MONDO:equivalentTo"}
is_a: MONDO:0002531 ! skin neoplasm
is_a: MONDO:0024255 ! genetic skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200547
property_value: exactMatch Orphanet:183487

[Term]
id: MONDO:0015951
name: hereditary photodermatosis
def: "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." [https://pubmed.ncbi.nlm.nih.gov/27745641]
subset: ordo_group_of_disorders {source="Orphanet:183490"}
synonym: "genetic photosensitivity" EXACT []
synonym: "genetic skin photosensitivity" EXACT [Orphanet:183490]
synonym: "photogenodermatosis" BROAD [Orphanet:183490]
synonym: "photogénodermatose" BROAD [Orphanet:183490]
xref: Orphanet:183490 {source="MONDO:equivalentTo"}
is_a: MONDO:0024255 ! genetic skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043", source="PMID:27745641"} ! rare
property_value: exactMatch Orphanet:183490

[Term]
id: MONDO:0015952
name: obsolete genetic neurodegenerative disease
is_obsolete: true
replaced_by: MONDO:0024237

[Term]
id: MONDO:0015953
name: genetic central nervous system and retinal vascular disease
subset: ordo_group_of_disorders {source="Orphanet:183503"}
xref: Orphanet:183503 {source="MONDO:equivalentTo"}
xref: UMLS:CN200550 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019117 {source="Orphanet:183503"} ! genetic nervous system disorder
is_a: MONDO:0020676 {source="MONDO:cjm"} ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
intersection_of: MONDO:0020676 ! disease of central nervous system or retinal vasculature
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200550
property_value: exactMatch Orphanet:183503

[Term]
id: MONDO:0015954
name: obsolete rare genetic headache disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183509"}
synonym: "rare genetic headache" EXACT [Orphanet:183509]
xref: Orphanet:183509 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226801 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226801
property_value: exactMatch Orphanet:183509
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021146

[Term]
id: MONDO:0015955
name: obsolete rare genetic epilepsy
def: "A form of epilepsy that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183512"}
synonym: "rare genetic epilepsy" EXACT []
xref: Orphanet:183512 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226802 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226802
property_value: exactMatch Orphanet:183512
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005027

[Term]
id: MONDO:0015956
name: obsolete rare hereditary ataxia
def: "Rare hereditary ataxia." [MONDO:patterns/rare]
is_obsolete: true
replaced_by: MONDO:0000557

[Term]
id: MONDO:0015957
name: obsolete rare genetic movement disorder
def: "Rare genetic movement disorder." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183521"}
synonym: "rare genetic movement disorder" EXACT []
xref: Orphanet:183521 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226803 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226803
property_value: exactMatch Orphanet:183521
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0015958
name: obsolete rare genetic bone disease
def: "Rare genetic bone disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183524"}
synonym: "rare genetic bone disease" EXACT []
xref: Orphanet:183524 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200553 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200553
property_value: exactMatch Orphanet:183524
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005381

[Term]
id: MONDO:0015959
name: obsolete inherited syndrome with bone tumors as a major feature
comment: This class was seeded from the ORDO genetic bone tumor class. We have renamed as this reflects the intent. See discussion here: https://github.com/Orphanet/ORDO/issues/13
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183527"}
synonym: "genetic bone tumor" RELATED [Orphanet:183527]
xref: Orphanet:183527 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200554 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200554
property_value: exactMatch Orphanet:183527
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0015960
name: obsolete rare genetic developmental defect during embryogenesis
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183530"}
xref: Orphanet:183530 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226804 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226804
property_value: exactMatch Orphanet:183530
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021147

[Term]
id: MONDO:0015961
name: genetic head and neck malformation
subset: ordo_group_of_disorders {source="Orphanet:183583"}
xref: Orphanet:183583 {source="MONDO:equivalentTo"}
is_a: MONDO:0021059 ! head or neck disease/disorder
is_a: MONDO:0021147 {source="Orphanet:183583"} ! disorder of development or morphogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch Orphanet:183583

[Term]
id: MONDO:0015962
name: inherited renal tubular disease
subset: ordo_group_of_disorders {source="Orphanet:183592"}
synonym: "genetic renal tubular disease" RELATED [Orphanet:183592]
xref: Orphanet:183592 {source="MONDO:equivalentTo"}
xref: UMLS:CN200561 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0021568 ! renal tubule disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020030"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200561
property_value: exactMatch Orphanet:183592

[Term]
id: MONDO:0015963
name: obsolete inherited renal tumor
subset: ordo_group_of_disorders {source="Orphanet:183595"}
synonym: "genetic renal tumor" RELATED [Orphanet:183595]
xref: Orphanet:183595 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200562 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200562
property_value: exactMatch Orphanet:183595
is_obsolete: true

[Term]
id: MONDO:0015964
name: rare genetic palpebral, lacrimal system and conjunctival disease
subset: implicit_genetic_in_ordo
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183598"}
xref: Orphanet:183598 {source="MONDO:equivalentTo"}
xref: UMLS:CN200563 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020150 ! rare palpebral, lacrimal system and conjunctival disease
intersection_of: MONDO:0020150 ! rare palpebral, lacrimal system and conjunctival disease
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015107 {source="Orphanet:183598"} ! obsolete rare genetic eye disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200563
property_value: exactMatch Orphanet:183598
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015965
name: rare genetic refraction anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183601"}
xref: Orphanet:183601 {source="MONDO:equivalentTo"}
xref: UMLS:CN226813 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:183601"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226813
property_value: exactMatch Orphanet:183601
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015966
name: obsolete hereditary eye tumor
subset: ordo_group_of_disorders {source="Orphanet:183619"}
synonym: "genetic eye tumor" RELATED [Orphanet:183619]
xref: Orphanet:183619 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200566 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200566
property_value: exactMatch Orphanet:183619
is_obsolete: true

[Term]
id: MONDO:0015967
name: monogenic diabetes
def: "Rare genetic diabetes mellitus." []
subset: ordo_group_of_disorders {source="Orphanet:183625"}
synonym: "rare genetic diabetes mellitus" EXACT []
xref: Orphanet:183625 {source="MONDO:equivalentTo"}
is_a: MONDO:0005015 ! diabetes mellitus (disease)
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CN226817
property_value: exactMatch Orphanet:183625
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015968
name: rare genetic hypothalamic or pituitary disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183628"}
xref: Orphanet:183628 {source="MONDO:equivalentTo"}
xref: UMLS:CN200567 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:183628"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200567
property_value: exactMatch Orphanet:183628
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015969
name: obsolete rare genetic thyroid disease
def: "Rare genetic thyroid disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183631"}
synonym: "rare genetic thyroid disease" EXACT []
xref: Orphanet:183631 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200568 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200568
property_value: exactMatch Orphanet:183631
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003240

[Term]
id: MONDO:0015970
name: rare genetic parathyroid disease and phosphocalcic metabolism disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183634"}
xref: Orphanet:183634 {source="MONDO:equivalentTo"}
xref: UMLS:CN200569 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001223 ! parathyroid gland disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200569
property_value: exactMatch Orphanet:183634
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0015971
name: obsolete rare genetic adrenal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183637"}
xref: Orphanet:183637 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200570 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200570
property_value: exactMatch Orphanet:183637
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005495

[Term]
id: MONDO:0015972
name: obsolete rare constitutional anemia
def: "A form of anemia (disease) that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183651"}
synonym: "rare constitutional anemia (disease)" EXACT [MONDO:patterns/rare_genetic]
synonym: "rare genetic anemia (disease)" EXACT []
synonym: "rare inborn anemia (disease)" EXACT [MONDO:patterns/rare_genetic]
xref: Orphanet:183651 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226818
property_value: exactMatch Orphanet:183651
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002280

[Term]
id: MONDO:0015973
name: obsolete rare genetic coagulation disorder
is_obsolete: true
replaced_by: MONDO:0021181

[Term]
id: MONDO:0015974
name: severe combined immunodeficiency (disease)
def: "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." [Orphanet:183660]
subset: ordo_group_of_disorders {source="Orphanet:183660"}
synonym: "combined T and B cell inborn immunodeficiency" EXACT [CSP2005:1560-6660, DOID:627]
synonym: "SCID" EXACT [DOID:627, NCIT:C3472, Orphanet:183660]
synonym: "severe combined immunodeficiency" EXACT [MONDO:ambiguous, NCIT:C3472]
synonym: "severe combined immunodeficiency (disease)" EXACT [MONDO:0003833]
synonym: "severe combined immunodeficiency disease" EXACT [NCIT:C3472]
xref: COHD:29783 {source="MONDO:equivalentTo"}
xref: DOID:627 {source="MONDO:equivalentTo"}
xref: GARD:0007628 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0004430 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D81.0 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"}
xref: ICD10:D81.1 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"}
xref: ICD10:D81.2 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"}
xref: ICD10:D81.3 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"}
xref: ICD10:D81.9 {source="ORDO:183660/btnt", source="Orphanet:183660", source="ORDO:183660/inclusion"}
xref: MedDRA:10069566 {source="ORDO:183660/e", source="Orphanet:183660"}
xref: MESH:D016511 {source="ORDO:183660/e", source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660"}
xref: NCIT:C3472 {source="kboom:pr0.83-conf10.15", source="MONDO:equivalentTo", source="DOID:627"}
xref: Orphanet:183660 {source="MONDO:equivalentTo"}
xref: SCTID:31323000 {source="MONDO:equivalentTo", source="DOID:627", source="MONDO:kboom-pr-0.76/0.49/0.20"}
xref: UMLS:C0085110 {source="ORDO:183660/e", source="NCIT:C3472", source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660"}
is_a: MONDO:0015131 {source="DOID:627", source="MONDOLEX:0015974", source="NCIT:C3472", source="Orphanet:183660"} ! congenital combined immunodeficiency
disjoint_from: MONDO:0018814 {source="MONDO:cjm"} ! non-severe combined immunodeficiency
property_value: closeMatch http://identifiers.org/snomedct/190994004
property_value: exactMatch DOID:627
property_value: exactMatch http://identifiers.org/meddra/10069566
property_value: exactMatch http://identifiers.org/mesh/D016511
property_value: exactMatch http://identifiers.org/snomedct/31323000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085110
property_value: exactMatch NCIT:C3472
property_value: exactMatch Orphanet:183660

[Term]
id: MONDO:0015975
name: hyper-IgM syndrome with susceptibility to opportunistic infections
subset: ordo_disease {source="Orphanet:183663"}
subset: predisposition
synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663]
xref: ICD10:D80.5 {source="ORDO:183663/attributed", source="ORDO:183663/ntbt", source="Orphanet:183663"}
xref: Orphanet:183663 {source="MONDO:equivalentTo"}
xref: UMLS:CN200572 {source="MONDO:equivalentTo"}
is_a: MONDO:0003947 {source="MONDO:Redundant", source="MONDO:cjm"} ! hyper-IgM syndrome
is_a: MONDO:0018814 {source="Orphanet:183663"} ! non-severe combined immunodeficiency
disjoint_from: MONDO:0015976 {source="MONDO:cjm"} ! hyper-IgM syndrome without susceptibility to opportunistic infections
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200572
property_value: exactMatch Orphanet:183663

[Term]
id: MONDO:0015976
name: hyper-IgM syndrome without susceptibility to opportunistic infections
subset: ordo_disease {source="Orphanet:183666"}
subset: predisposition
synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666]
xref: ICD10:D80.5 {source="ORDO:183666/attributed", source="ORDO:183666/ntbt", source="Orphanet:183666"}
xref: Orphanet:183666 {source="MONDO:equivalentTo"}
xref: UMLS:CN200573 {source="MONDO:equivalentTo"}
is_a: MONDO:0003947 {source="MONDO:cjm"} ! hyper-IgM syndrome
is_a: MONDO:0018040 {source="Orphanet:183666"} ! immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200573
property_value: exactMatch Orphanet:183666

[Term]
id: MONDO:0015977
name: agammaglobulinemia
def: "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." [NCIT:P378]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:183669"}
synonym: "antibody Deficiency" RELATED [GARD:0007455]
synonym: "Gammaglobulin Deficiency" RELATED [GARD:0007455]
synonym: "hypogammaglobulinemia" EXACT [CSP2005:0449-3787, DOID:2583, NCIT:C26931]
synonym: "IGHM" EXACT [DOID:2583]
synonym: "Immunoglobulin Deficiency" RELATED [GARD:0007455]
synonym: "mu heavy chain deficiency" EXACT [DOID:2583]
xref: DOID:2583 {source="MONDO:equivalentTo"}
xref: GARD:0007455 {source="MONDO:equivalentTo"}
xref: ICD10:D80.1 {source="DOID:2583"}
xref: ICD9:279.00 {source="DOID:2583"}
xref: MedDRA:10001471 {source="Orphanet:183669", source="ORDO:183669/e"}
xref: MESH:D000361 {source="DOID:2583", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:183669", source="ORDO:183669/e"}
xref: OMIMPS:601495 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:183669 {source="MONDO:equivalentTo"}
is_a: MONDO:0002211 {source="DOID:2583"} ! B cell deficiency
is_a: MONDO:0015132 {source="Orphanet:183669"} ! immunodeficiency predominantly affecting antibody production
property_value: closeMatch http://identifiers.org/snomedct/119249001
property_value: closeMatch http://identifiers.org/snomedct/119250001
property_value: closeMatch http://identifiers.org/snomedct/190977001
property_value: closeMatch http://identifiers.org/snomedct/190978006
property_value: closeMatch http://identifiers.org/snomedct/267512002
property_value: closeMatch http://identifiers.org/snomedct/81282009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086438
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0745242
property_value: exactMatch DOID:2583
property_value: exactMatch http://identifiers.org/meddra/10001471
property_value: exactMatch http://identifiers.org/mesh/D000361
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001768
property_value: exactMatch Orphanet:183669

[Term]
id: MONDO:0015978
name: functional neutrophil defect
subset: ordo_group_of_disorders {source="Orphanet:183681"}
synonym: "neutrophil disease" EXACT [MONDO:cjm]
synonym: "neutrophilopathy" EXACT [MONDO:cjm]
xref: Orphanet:183681 {source="MONDO:equivalentTo"}
xref: SCTID:105600002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015133 {source="Orphanet:183681"} ! quantitative and/or qualitative congenital phagocyte defect
property_value: exactMatch http://identifiers.org/snomedct/105600002
property_value: exactMatch Orphanet:183681

[Term]
id: MONDO:0015979
name: hereditary predisposition to infections
comment: Editor note: todo logical definition
subset: ordo_group_of_disorders {source="Orphanet:183710"}
synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710]
xref: ICD10:D84.8 {source="ORDO:183710/attributed", source="ORDO:183710/ntbt", source="Orphanet:183710"}
xref: Orphanet:183710 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005550 ! infectious disease
relationship: excluded_subClassOf MONDO:0015135 {source="Orphanet:183710"} ! primary immunodeficiency due to a genetic defect in innate immunity
relationship: predisposes_towards MONDO:0005550 ! infectious disease
property_value: exactMatch Orphanet:183710

[Term]
id: MONDO:0015980
name: obsolete rare genetic gynecological and obstetrical diseases
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183731"}
synonym: "rare genetic female reproductive system disease" EXACT [MONDO:cjm]
xref: Orphanet:183731 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200580 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200580
property_value: exactMatch Orphanet:183731
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002263

[Term]
id: MONDO:0015981
name: obsolete inherited gynecological tumor
subset: ordo_group_of_disorders {source="Orphanet:183734"}
synonym: "genetic gynecological tumor" EXACT [Orphanet:183734]
synonym: "rare genetic female reproductive system tumor" EXACT [MONDO:cjm]
xref: Orphanet:183734 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200581 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200581
property_value: exactMatch Orphanet:183734
is_obsolete: true

[Term]
id: MONDO:0015982
name: obsolete rare genetic intellectual disability
def: "Rare genetic intellectual disability." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183757"}
synonym: "rare genetic intellectual disability" EXACT []
xref: Orphanet:183757 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226821 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226821
property_value: exactMatch Orphanet:183757
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001071

[Term]
id: MONDO:0015983
name: obsolete rare genetic syndromic intellectual disability
def: "Rare genetic syndromic intellectual disability." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183763"}
synonym: "rare genetic syndromic intellectual disability" EXACT []
xref: Orphanet:183763 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226822 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226822
property_value: exactMatch Orphanet:183763
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000508

[Term]
id: MONDO:0015984
name: obsolete rare genetic immune disease
def: "Rare genetic immune system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:183770"}
synonym: "rare genetic immune system disease" EXACT []
xref: Orphanet:183770 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN200582 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200582
property_value: exactMatch Orphanet:183770
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005046

[Term]
id: MONDO:0015985
name: bone dysplasia, Azouz type
def: "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." [Orphanet:1844]
subset: gard_rare {source="GARD:0000920"}
subset: ordo_malformation_syndrome {source="Orphanet:1844"}
synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920]
xref: GARD:0000920 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.4 {source="ORDO:1844/ntbt", source="Orphanet:1844", source="ORDO:1844/inclusion"}
xref: Orphanet:1844 {source="MONDO:equivalentTo"}
xref: SCTID:720566004 {source="MONDO:kboom-pr-0.77/0.38/0.80", source="MONDO:equivalentTo"}
xref: UMLS:C4303993 {source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:1844"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/snomedct/720566004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303993
property_value: exactMatch Orphanet:1844
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type xsd:anyURI {source="GARD:0000920"}

[Term]
id: MONDO:0015986
name: bilateral renal agenesis
def: "Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." [Orphanet:1848]
subset: ordo_clinical_subtype {source="Orphanet:1848"}
synonym: "bilateral renal aplasia" RELATED [DOID:0080200]
synonym: "renal agenesis, bilateral" RELATED [Orphanet:1848]
xref: DOID:0080200 {source="MONDO:equivalentTo"}
xref: ICD10:Q60.1 {source="MONDO:equivalentTo", source="ORDO:1848/specific", source="Orphanet:1848", source="ORDO:1848/e"}
xref: NCIT:C101219 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: Orphanet:1848 {source="DOID:0080200", source="MONDO:equivalentTo"}
is_a: MONDO:0018470 {source="DOID:0080200", source="NCIT:C101219", source="Orphanet:1848"} ! renal agenesis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1609433
property_value: exactMatch DOID:0080200
property_value: exactMatch http://identifiers.org/mesh/C536482
property_value: exactMatch NCIT:C101219
property_value: exactMatch Orphanet:1848

[Term]
id: MONDO:0015987
name: scimitar syndrome
def: "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." [Orphanet:185]
subset: ordo_malformation_syndrome {source="Orphanet:185"}
synonym: "congenital pulmonary venolobar syndrome" EXACT [Orphanet:185]
synonym: "Epibronchial right pulmonary vein syndrome" EXACT [Orphanet:185]
synonym: "Halasz syndrome" EXACT [Orphanet:185]
synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185]
xref: ICD10:Q26.8 {source="ORDO:185/ntbt", source="Orphanet:185"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051951 {source="ORDO:185/e", source="Orphanet:185"}
xref: MESH:D012587 {source="MONDO:equivalentTo", source="ORDO:185/e", source="Orphanet:185"}
xref: NCIT:C85056 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:185 {source="MONDO:equivalentTo"}
xref: SCTID:39905002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0036400 {source="MONDO:equivalentTo", source="ORDO:185/e", source="NCIT:C85056", source="Orphanet:185"}
is_a: MONDO:0002254 {source="MONDOLEX:0015987", source="NCIT:C85056"} ! syndromic disease
is_a: MONDO:0017705 {source="MONDO:cjm"} ! congenital pulmonary venous return anomaly
is_a: MONDO:0020292 {source="Orphanet:185"} ! congenital anomaly of the great arteries
property_value: exactMatch http://identifiers.org/meddra/10051951
property_value: exactMatch http://identifiers.org/mesh/D012587
property_value: exactMatch http://identifiers.org/snomedct/39905002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036400
property_value: exactMatch NCIT:C85056
property_value: exactMatch Orphanet:185

[Term]
id: MONDO:0015988
name: multicystic dysplastic kidney
def: "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional." [Orphanet:1851]
subset: ordo_morphological_anomaly {source="Orphanet:1851"}
synonym: "MCDK" EXACT [Orphanet:1851]
synonym: "multicystic renal dysplasia" EXACT [Orphanet:1851]
xref: ICD10:Q61.4 {source="Orphanet:1851", source="ORDO:1851/ntbt", source="ORDO:1851/inclusion"}
xref: ICD9:753.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D021782 {source="Orphanet:1851", source="ORDO:1851/e", source="MONDO:equivalentTo"}
xref: NCIT:C123031 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:1851 {source="MONDO:equivalentTo"}
xref: SCTID:204962002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.42/0.43"}
xref: UMLS:C3714581 {source="Orphanet:1851", source="NCIT:C123031", source="MONDO:equivalentTo"}
is_a: MONDO:0002473 {source="MESH:D021782", source="NCIT:C123031"} ! cystic kidney disease
is_a: MONDO:0019720 {source="Orphanet:1851"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/D021782
property_value: exactMatch http://identifiers.org/snomedct/204962002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345335
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714581
property_value: exactMatch NCIT:C123031
property_value: exactMatch Orphanet:1851

[Term]
id: MONDO:0015989
name: congenital valvular dysplasia
def: "1/100,000) usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. When it is associated with either stenosis or regurgitation of the affected valve(s), the symptoms depend on the degree of obstruction or on the volume of regurgitation." [Orphanet:1864]
comment: Editor note: TODO check this. The name suggests it affects any valve, but the ORDO superclass suggests tricuspid only
subset: ordo_morphological_anomaly {source="Orphanet:1864"}
xref: ICD10:Q24.8 {source="ORDO:1864/attributed", source="ORDO:1864/ntbt", source="Orphanet:1864"}
xref: Orphanet:1864 {source="MONDO:equivalentTo"}
xref: SCTID:718128009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
is_a: MONDO:0017131 {source="Orphanet:1864"} ! genetic cardiac anomaly
is_a: MONDO:0020289 {source="Orphanet:1864"} ! congenital tricuspid malformation
property_value: exactMatch http://identifiers.org/snomedct/718128009
property_value: exactMatch Orphanet:1864

[Term]
id: MONDO:0015990
name: focal, segmental or multifocal dystonia
def: "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." [Orphanet:1866]
subset: ordo_group_of_disorders {source="Orphanet:1866"}
xref: ICD10:G24.3 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"}
xref: ICD10:G24.4 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"}
xref: ICD10:G24.5 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="MONDO:relatedTo", source="Orphanet:1866"}
xref: ICD10:G24.8 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"}
xref: Orphanet:1866 {source="MONDO:equivalentTo"}
is_a: MONDO:0015494 {source="Orphanet:1866"} ! isolated dystonia
property_value: exactMatch Orphanet:1866

[Term]
id: MONDO:0015991
name: citrullinemia
def: "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms)." [Orphanet:187]
subset: ordo_group_of_disorders {source="Orphanet:187"}
synonym: "ass deficiency" NARROW [CSP2005:1849-9492, DOID:9273]
synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273]
xref: DOID:9273 {source="MONDO:equivalentTo"}
xref: ICD10:E72.2 {source="ORDO:187/inclusion", source="ORDO:187/ntbt", source="Orphanet:187"}
xref: ICD10:E72.23 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: MESH:D020159 {source="MONDO:equivalentTo", source="ORDO:187/e", source="DOID:9273", source="Orphanet:187"}
xref: NCIT:C84639 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:9273"}
xref: Orphanet:187 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: SCTID:124711003 {source="MONDO:kboom-pr-0.69/0.37/0.07", source="MONDO:equivalentTo", source="DOID:9273"}
xref: UMLS:C0175683 {source="MONDO:equivalentTo", source="NCIT:C84639", source="ORDO:187/e", source="DOID:9273", source="Orphanet:187"}
is_a: MONDO:0019217 {source="Orphanet:187"} ! inborn disorder of urea cycle metabolism and ammonia detoxification
property_value: closeMatch http://identifiers.org/snomedct/15489004
property_value: closeMatch http://identifiers.org/snomedct/398630005
property_value: exactMatch DOID:9273
property_value: exactMatch http://identifiers.org/mesh/D020159
property_value: exactMatch http://identifiers.org/snomedct/124711003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175683
property_value: exactMatch NCIT:C84639
property_value: exactMatch Orphanet:187

[Term]
id: MONDO:0015992
name: obsolete progressive cone dystrophy
is_obsolete: true
replaced_by: MONDO:0000455

[Term]
id: MONDO:0015993
name: cone-rod dystrophy
def: "Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies." [Orphanet:1872]
subset: ordo_disease {source="Orphanet:1872"}
synonym: "cone rod dystrophy" RELATED [Orphanet:1872]
synonym: "cone-rod retinal dystrophy" EXACT [DOID:0050572]
xref: DOID:0050572 {source="MONDO:equivalentTo"}
xref: GARD:0010790 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.5 {source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872", source="ORDO:1872/attributed", source="ORDO:1872/ntbt"}
xref: OMIMPS:120970 {source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="DOID:0050572", source="MONDO:equivalentTo"}
is_a: MONDO:0020244 {source="Orphanet:1872"} ! unclassified primitive or secondary maculopathy
property_value: exactMatch DOID:0050572
property_value: exactMatch Orphanet:1872

[Term]
id: MONDO:0015994
name: muscular dystrophy-white matter spongiosis syndrome
subset: gard_rare
subset: ordo_disease {source="Orphanet:1877"}
synonym: "Atrophie blanche" RELATED [GARD:0003854]
synonym: "muscular dystrophy white matter spongiosis" RELATED [GARD:0003854]
xref: GARD:0003854 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:1877/attributed", source="ORDO:1877/ntbt", source="Orphanet:1877"}
xref: Orphanet:1877 {source="GARD:0003854", source="MONDO:equivalentTo"}
xref: UMLS:CN200619 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020120 {source="Orphanet:1877", source="Orphanet:1877/inferred"} ! skeletal muscle disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200619
property_value: exactMatch Orphanet:1877
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis xsd:anyURI {source="GARD:0003854"}

[Term]
id: MONDO:0015995
name: melorheostosis with osteopoikilosis
def: "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." [Orphanet:1879]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1879"}
synonym: "dystrophy osseous sclerosing mixed" RELATED [GARD:0003800]
synonym: "mixed sclerosing bone dystrophy" EXACT [Orphanet:1879]
synonym: "MSBD syndrome" EXACT [Orphanet:1879]
xref: GARD:0003690 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0003800 {source="MONDO:equivalentTo"}
xref: ICD10:M85.8 {source="ORDO:1879/attributed", source="ORDO:1879/ntbt", source="Orphanet:1879"}
xref: Orphanet:1879 {source="MONDO:equivalentTo"}
xref: UMLS:C2931505 {source="MONDO:equivalentTo", source="Orphanet:1879", source="ORDO:1879/e", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN200621 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008157 ! Buschke-Ollendorff syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200621
property_value: exactMatch Orphanet:1879

[Term]
id: MONDO:0015996
name: obsolete systemic capillary leak syndrome
is_obsolete: true
replaced_by: MONDO:0001956

[Term]
id: MONDO:0015997
name: ectopia lentis-chorioretinal dystrophy-myopia syndrome
def: "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." [Orphanet:1884]
subset: ordo_disease {source="Orphanet:1884"}
synonym: "ectopia lentis chorioretinal dystrophy myopia" RELATED [GARD:0003999]
synonym: "noble Bass Sherman syndrome" RELATED [GARD:0003999]
synonym: "noble-Bass-Sherman syndrome" EXACT [Orphanet:1884]
xref: GARD:0003999 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q15.8 {source="Orphanet:1884", source="ORDO:1884/attributed", source="ORDO:1884/ntbt"}
xref: MESH:C536124 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1884 {source="MONDO:equivalentTo"}
xref: SCTID:722437006 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:1884"} ! inherited retinal dystrophy
is_a: MONDO:0020236 {source="Orphanet:1884"} ! lens position anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931115
property_value: exactMatch http://identifiers.org/mesh/C536124
property_value: exactMatch http://identifiers.org/snomedct/722437006
property_value: exactMatch Orphanet:1884

[Term]
id: MONDO:0015998
name: isolated ectopia lentis
def: "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." [Orphanet:1885]
subset: gard_rare {source="GARD:0012251"}
subset: ordo_malformation_syndrome {source="Orphanet:1885"}
synonym: "congenital ectopic lens" RELATED [NCIT:C34566]
synonym: "ectopia lentis syndrome" EXACT [Orphanet:1885]
synonym: "familial ectopia lentis" EXACT [DOID:0111148, Orphanet:1885]
synonym: "IEL" EXACT [DOID:0111148]
synonym: "isolated lens position anomaly" EXACT []
synonym: "nonsyndromic lens position anomaly" EXACT [MONDO:patterns/isolated]
xref: DC:0000511 {source="MONDO:equivalentTo"}
xref: DOID:0111148 {source="MONDO:equivalentTo"}
xref: GARD:0012251 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.1 {source="ORDO:1885/specific", source="ORDO:1885/e", source="Orphanet:1885", source="DOID:0111148"}
xref: MedDRA:10014145 {source="ORDO:1885/e", source="Orphanet:1885"}
xref: MESH:C536184 {source="ORDO:1885/e", source="MONDO:equivalentTo", source="Orphanet:1885", source="MONDO:ontobio"}
xref: NCIT:C34566 {source="MONDO:equivalentTo", source="DOID:0111148"}
xref: Orphanet:1885 {source="MONDO:equivalentTo", source="DOID:0111148"}
xref: PMID:20141359 {source="DOID:0111148"}
xref: SCTID:74969002 {source="MONDO:equivalentTo", source="DOID:0111148"}
is_a: MONDO:0020236 {source="Orphanet:1885"} ! lens position anomaly
intersection_of: MONDO:0020236 ! lens position anomaly
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: excluded_subClassOf MONDO:0017310 {source="Orphanet:1885"} ! Marfan and Marfan-related disorder
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://identifiers.org/snomedct/204136005
property_value: closeMatch http://identifiers.org/snomedct/231976001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851286
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2746069
property_value: exactMatch DOID:0111148
property_value: exactMatch http://identifiers.org/meddra/10014145
property_value: exactMatch http://identifiers.org/mesh/C536184
property_value: exactMatch http://identifiers.org/mesh/D004479
property_value: exactMatch http://identifiers.org/snomedct/74969002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013581
property_value: exactMatch NCIT:C34566
property_value: exactMatch Orphanet:1885
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis xsd:anyURI {source="GARD:0012251"}

[Term]
id: MONDO:0015999
name: primary pigmented nodular adrenocortical disease
def: "Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." [Orphanet:189439]
subset: gard_rare {source="GARD:0010906"}
subset: ordo_disease {source="Orphanet:189439"}
synonym: "pigmented nodular adrenocortical disease" EXACT [MONDO:0000084]
synonym: "pigmented nodular adrenocortical disease, primary" EXACT [OMIMPS:610489]
synonym: "PPNAD" EXACT [Orphanet:189439]
synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196]
xref: DC:0000357 {source="MONDO:equivalentTo"}
xref: DOID:0060280 {source="MONDO:equivalentTo"}
xref: GARD:0010906 {source="MONDO:equivalentTo"}
xref: ICD10:E24.8 {source="ORDO:189439/attributed", source="ORDO:189439/ntbt", source="Orphanet:189439"}
xref: NCIT:C131196 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIMPS:610489 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:189439 {source="MONDO:equivalentTo", source="DOID:0060280"}
xref: SCTID:719274008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4304832 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN200645 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020529 {source="Orphanet:189439"} ! ACTH-independent Cushing syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1864846
property_value: exactMatch DOID:0060280
property_value: exactMatch http://identifiers.org/snomedct/719274008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200645
property_value: exactMatch NCIT:C131196
property_value: exactMatch Orphanet:189439
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease xsd:anyURI {source="GARD:0010906"}

[Term]
id: MONDO:0016000
name: familial isolated hypoparathyroidism due to impaired PTH secretion
subset: ordo_clinical_subtype {source="Orphanet:189466"}
xref: ICD10:E20.8 {source="Orphanet:189466", source="ORDO:189466/attributed", source="ORDO:189466/ntbt"}
xref: Orphanet:189466 {source="MONDO:equivalentTo"}
xref: UMLS:CN200646 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200646
property_value: exactMatch Orphanet:189466

[Term]
id: MONDO:0016001
name: 2-hydroxyglutaric aciduria
def: "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." [Orphanet:19]
subset: gard_rare {source="GARD:0010761"}
subset: ordo_group_of_disorders {source="Orphanet:19"}
synonym: "2-HGA" RELATED [MESH:C535306]
synonym: "2-hydroxyglutaric acidemia" EXACT [Orphanet:19]
synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306]
xref: DOID:0050573 {source="MONDO:equivalentTo"}
xref: GARD:0010761 {source="MONDO:equivalentTo"}
xref: ICD10:E72.8 {source="ORDO:19/attributed", source="ORDO:19/ntbt", source="Orphanet:19"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535306 {source="MONDO:equivalentTo"}
xref: NCIT:C128187 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:19 {source="MONDO:equivalentTo"}
xref: SCTID:698870008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2746066 {source="NCIT:C128187", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:19"}
is_a: MONDO:0016399 {source="Orphanet:19"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:19"} ! neurometabolic disease
is_a: MONDO:0019213 {source="Orphanet:19"} ! cerebral organic aciduria
property_value: exactMatch DOID:0050573
property_value: exactMatch http://identifiers.org/mesh/C535306
property_value: exactMatch http://identifiers.org/snomedct/698870008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2746066
property_value: exactMatch NCIT:C128187
property_value: exactMatch Orphanet:19
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria xsd:anyURI {source="GARD:0010761"}

[Term]
id: MONDO:0016002
name: Ehlers-Danlos syndrome, kyphoscoliotic type 1
def: "Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." [Orphanet:1900]
subset: ordo_disease {source="Orphanet:1900"}
synonym: "EDS 6" RELATED [OMIM:225400]
synonym: "EDS 6 (formerly)" RELATED [GARD:0002083]
synonym: "EDS VI" RELATED [MESH:C536198]
synonym: "EDS VIA" EXACT [Orphanet:1900]
synonym: "EDS, kyphoscoliotic type" EXACT [Orphanet:1900]
synonym: "EDS, oculoscoliotic type" EXACT [Orphanet:1900]
synonym: "EDS6" RELATED [MESH:C536198, MONDO:Lexical, OMIM:225400]
synonym: "EDS6A, formerly" RELATED [MESH:C536198]
synonym: "EDSKSCL1" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome kyphoscoliotic type" EXACT []
synonym: "Ehlers-Danlos syndrome oculoscoliotic type" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome type 6 (formerly)" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome type 6A" EXACT [Orphanet:1900]
synonym: "Ehlers-Danlos syndrome type 6A (formerly)" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome, kyphoscoliosis type" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [MESH:C536198, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDSKSCL1" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, ocular-scoliotic type" RELATED [MESH:C536198, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [Orphanet:1900]
synonym: "Ehlers-Danlos syndrome, type 6" EXACT [MESH:C536198, MONDO:0009160]
synonym: "Ehlers-Danlos syndrome, type 6 A" RELATED [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type VI" RELATED [MESH:C536198, MONDO:Lexical, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, type VI; EDS6" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, type VIA" RELATED [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type Via" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, type VIA, formerly" RELATED [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type Via, formerly" RELATED [OMIM:225400]
synonym: "kEDS" RELATED [GARD:0002083]
synonym: "kyphoscoliotic EDS" RELATED [GARD:0002083]
synonym: "kyphoscoliotic Ehlers-Danlos syndrome" RELATED [GARD:0002083]
synonym: "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" EXACT [Orphanet:1900]
synonym: "nevo syndrome" EXACT DEPRECATED [MESH:C536198, OMIM:225400, PMID:19760654]
xref: GARD:0002083 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:1900/attributed", source="ORDO:1900/ntbt", source="Orphanet:1900"}
xref: MESH:C536198 {source="MONDO:equivalentTo"}
xref: NCIT:C125700 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: OMIM:225400 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="ORDO:1900/e", source="Orphanet:1900"}
xref: Orphanet:1900 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:225400"}
xref: SCTID:718211004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225400", source="NCIT:C125700", source="MEDGEN:kboom-pr94-c94", source="Orphanet:1900"}
xref: UMLS:CN202461 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0020066 {source="DC-OMIM:225400", source="MESH:C536198", source="MONDOLEX:0016002", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900", source="linkedlifedata"} ! Ehlers-Danlos syndrome
is_a: MONDO:0020272 {source="Orphanet:1900"} ! connective tissue disease with eye involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C536198
property_value: exactMatch http://identifiers.org/omim/225400
property_value: exactMatch http://identifiers.org/snomedct/718211004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202461
property_value: exactMatch NCIT:C125700
property_value: exactMatch Orphanet:1900

[Term]
id: MONDO:0016003
name: ehrlichiosis
def: "Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE) (see these terms)." [Orphanet:1902]
subset: ordo_disease {source="Orphanet:1902"}
synonym: "human ehrlichiosis" NARROW [DOID:10242]
xref: COHD:438342 {source="MONDO:equivalentTo"}
xref: DOID:10242 {source="MONDO:equivalentTo"}
xref: GARD:0002092 {source="MONDO:equivalentTo"}
xref: ICD10:A48.8 {source="ORDO:1902/ntbt", source="Orphanet:1902"}
xref: ICD10:A77.4 {source="DOID:10242"}
xref: ICD10:A77.40 {source="DOID:10242"}
xref: ICD9:082.4 {source="DOID:10242"}
xref: ICD9:082.40 {source="DOID:10242"}
xref: MESH:D016873 {source="MONDO:equivalentTo", source="ORDO:1902/e", source="MONDO:ontobio", source="DOID:10242", source="Orphanet:1902"}
xref: Orphanet:1902 {source="MONDO:equivalentTo"}
xref: SCTID:240626005 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"}
xref: UMLS:C0085399 {source="MONDO:equivalentTo", source="ORDO:1902/e", source="DOID:10242", source="Orphanet:1902"}
is_a: MONDO:0000314 {source="DOID:10242"} ! primary bacterial infectious disease
is_a: MONDO:0006922 ! Anaplasmataceae infectious disease
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: closeMatch http://identifiers.org/snomedct/77361002
property_value: exactMatch DOID:10242
property_value: exactMatch http://identifiers.org/mesh/D016873
property_value: exactMatch http://identifiers.org/snomedct/240626005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085399
property_value: exactMatch Orphanet:1902

[Term]
id: MONDO:0016004
name: aminopterin/methotrexate embryofetopathy
def: "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." [Orphanet:1908]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1908"}
synonym: "aminopterin embryopathy syndrome" EXACT [GARD:0002294, Orphanet:1908]
synonym: "aminopterin fetopathy syndrome" RELATED [GARD:0002294]
synonym: "aminopterin syndrome" RELATED [GARD:0002294]
synonym: "fetal aminopterin syndrome" EXACT [Orphanet:1908]
synonym: "fetal methotrexate syndrome" RELATED [GARD:0002294]
xref: GARD:0002294 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="Orphanet:1908", source="ORDO:1908/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071183 {source="ORDO:1908/e", source="Orphanet:1908"}
xref: NCIT:C98928 {source="MONDO:equivalentTo"}
xref: Orphanet:1908 {source="MONDO:equivalentTo"}
xref: SCTID:65986000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432367 {source="ORDO:1908/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:1908", source="MONDO:equivalentTo", source="GARD:0002294"}
is_a: MONDO:0015323 {source="Orphanet:1908"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1908"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/meddra/10071183
property_value: exactMatch http://identifiers.org/snomedct/65986000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432367
property_value: exactMatch NCIT:C98928
property_value: exactMatch Orphanet:1908

[Term]
id: MONDO:0016005
name: indomethacin embryofetopathy
def: "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." [Orphanet:1909]
subset: ordo_malformation_syndrome {source="Orphanet:1909"}
synonym: "antenatal indomethacin exposure" RELATED [GARD:0002994]
synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909]
xref: GARD:0002994 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q86.8 {source="Orphanet:1909", source="ORDO:1909/ntbt"}
xref: Orphanet:1909 {source="MONDO:equivalentTo"}
xref: SCTID:715430001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275138 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN200656 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015323 {source="Orphanet:1909"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1909"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/715430001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200656
property_value: exactMatch Orphanet:1909

[Term]
id: MONDO:0016006
name: Cockayne syndrome
def: "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." [Orphanet:191]
subset: ordo_disease {source="Orphanet:191"}
synonym: "Cockayne's syndrome" RELATED [CSP2005:0977-5812, DOID:2962]
synonym: "dwarfism-retinal atrophy-deafness syndrome" RELATED [GARD:0006122]
synonym: "Neill-Dingwall syndrome" EXACT [DOID:2962]
synonym: "progeria-like syndrome" RELATED [GARD:0006122]
synonym: "progeroid nanism" RELATED [GARD:0006122]
xref: DOID:2962 {source="MONDO:equivalentTo"}
xref: GARD:0006122 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:191", source="DOID:2962", source="ORDO:191/inclusion", source="ORDO:191/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10009835 {source="ORDO:191/e", source="Orphanet:191"}
xref: MESH:D003057 {source="ORDO:191/e", source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962"}
xref: NCIT:C9460 {source="MONDO:kboom-pr-0.86/0.70/0.22", source="MONDO:equivalentTo", source="DOID:2962"}
xref: Orphanet:191 {source="MONDO:equivalentTo", source="DOID:2962"}
xref: SCTID:21086008 {source="MONDO:equivalentTo", source="DOID:2962", source="MONDO:kboom-pr-0.86/0.67/0.42"}
xref: UMLS:C0009207 {source="ORDO:191/e", source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="NCIT:C9460"}
is_a: MONDO:0000508 {source="Orphanet:191"} ! syndromic intellectual disability
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0006025 {source="DOID:2962", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:191"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:191"} ! progeroid syndrome
is_a: MONDO:0015945 {source="Orphanet:191"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0015951 {source="https://dermnetnz.org/topics/photosensitivity/"} ! hereditary photodermatosis
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019589 {source="Orphanet:191"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:191"} ! syndromic retinitis pigmentosa
is_a: MONDO:0021190 {source="MESH:D003057", source="MONDO:Redundant", source="OWLReasoner:2017"} ! DNA repair disease
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:191"} ! inherited neurodegenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/205832003
property_value: exactMatch DOID:2962
property_value: exactMatch http://identifiers.org/meddra/10009835
property_value: exactMatch http://identifiers.org/mesh/D003057
property_value: exactMatch http://identifiers.org/snomedct/21086008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009207
property_value: exactMatch NCIT:C9460
property_value: exactMatch Orphanet:191
property_value: narrowMatch http://identifiers.org/omim/216411

[Term]
id: MONDO:0016007
name: cocaine embryofetopathy
def: "to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." [Orphanet:1911]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1911"}
synonym: "cocaine antenatal exposure" RELATED [GARD:0001413]
synonym: "cocaine fetopathy" RELATED [GARD:0001413]
synonym: "fetal cocaine syndrome" EXACT [GARD:0001413, Orphanet:1911]
synonym: "prenatal cocaine exposure" RELATED [GARD:0001413]
xref: GARD:0001413 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:1911/ntbt", source="Orphanet:1911"}
xref: ICD9:760.75 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1911 {source="MONDO:equivalentTo"}
xref: SCTID:254250002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432371 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="GARD:0001413", source="ORDO:1911/e", source="Orphanet:1911"}
is_a: MONDO:0015323 {source="Orphanet:1911"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1911"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/254250002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432371
property_value: exactMatch Orphanet:1911

[Term]
id: MONDO:0016008
name: fetal hydantoin syndrome
def: "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." [Orphanet:1912]
subset: gard_rare {source="GARD:0006435"}
subset: ordo_malformation_syndrome {source="Orphanet:1912"}
synonym: "Dilantin embryopathy" RELATED [GARD:0006435]
synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912]
synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912]
synonym: "phenytoin embryopathy" RELATED [GARD:0006435]
xref: GARD:0006435 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.1 {source="MONDO:equivalentTo", source="Orphanet:1912", source="ORDO:1912/e"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10016508 {source="Orphanet:1912", source="ORDO:1912/e"}
xref: MESH:C537922 {source="MONDO:equivalentTo", source="Orphanet:1912", source="MONDO:ontobio", source="ORDO:1912/e"}
xref: NCIT:C98927 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:1912 {source="MONDO:equivalentTo"}
xref: SCTID:70065001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0265372 {source="NCIT:C98927", source="MONDO:equivalentTo", source="Orphanet:1912", source="ORDO:1912/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0016008", source="NCIT:C98927"} ! syndromic disease
is_a: MONDO:0015323 {source="Orphanet:1912"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0018262 {source="Orphanet:1912"} ! fetal anticonvulsant syndrome
property_value: exactMatch http://identifiers.org/meddra/10016508
property_value: exactMatch http://identifiers.org/mesh/C537922
property_value: exactMatch http://identifiers.org/snomedct/70065001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265372
property_value: exactMatch NCIT:C98927
property_value: exactMatch Orphanet:1912
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome xsd:anyURI {source="GARD:0006435"}

[Term]
id: MONDO:0016009
name: fetal trimethadione syndrome
def: "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome; see this term), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." [Orphanet:1913]
subset: ordo_malformation_syndrome {source="Orphanet:1913"}
xref: ICD10:Q86.8 {source="ORDO:1913/ntbt", source="Orphanet:1913"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537798 {source="MONDO:equivalentTo", source="ORDO:1913/e", source="MONDO:ontobio", source="Orphanet:1913"}
xref: Orphanet:1913 {source="MONDO:equivalentTo"}
xref: SCTID:66351003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265373 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:1913/e", source="Orphanet:1913"}
is_a: MONDO:0015323 {source="Orphanet:1913"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0018262 {source="Orphanet:1913"} ! fetal anticonvulsant syndrome
property_value: exactMatch http://identifiers.org/mesh/C537798
property_value: exactMatch http://identifiers.org/snomedct/66351003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265373
property_value: exactMatch Orphanet:1913

[Term]
id: MONDO:0016010
name: vitamin K-antagonist embryofetopathy
def: "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." [NCIT:C98906]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1914"}
synonym: "congenital warfarin syndrome" RELATED [GARD:0008580]
synonym: "coumarin embryopathy" RELATED [GARD:0008580]
synonym: "coumarin syndrome" RELATED [GARD:0008580]
synonym: "di Sala syndrome" EXACT [Orphanet:1914]
synonym: "DiSala syndrome" RELATED [GARD:0008580]
synonym: "embryofetopathy due to oral anticoagulant therapy" RELATED [GARD:0008580]
synonym: "fetal anticoagulant syndrome" RELATED [GARD:0008580]
synonym: "fetal Coumadin syndrome" EXACT [NCIT:C98906]
synonym: "fetal warfarin syndrome" EXACT [NCIT:C98906]
synonym: "vitamin K antagonist embryofetopathy" RELATED [Orphanet:1914]
synonym: "vitamin K antagonist embryopathy" EXACT [Orphanet:1914]
synonym: "vitamin K antagonists embryofetopathy" RELATED [GARD:0008580]
synonym: "vitamin K-antagonist embryofetopathy" EXACT [GARD:0008580]
synonym: "vitamin K-antagonist embryopathy" EXACT [Orphanet:1914]
synonym: "warfarin embryofetopathy" EXACT [GARD:0008580, Orphanet:1914]
synonym: "warfarin embryopathy" EXACT [GARD:0008580, Orphanet:1914]
synonym: "warfarin syndrome" RELATED [GARD:0008580]
xref: GARD:0008580 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.2 {source="Orphanet:1914", source="ORDO:1914/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051445 {source="Orphanet:1914", source="ORDO:1914/e"}
xref: MESH:C536683 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98906 {source="MONDO:equivalentTo"}
xref: Orphanet:1914 {source="MONDO:equivalentTo", source="GARD:0008580"}
xref: SCTID:38323006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265374 {source="MONDO:equivalentTo", source="GARD:0008580", source="NCIT:C98906", source="Orphanet:1914"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0016010", source="NCIT:C98906"} ! syndromic disease
is_a: MONDO:0015323 {source="Orphanet:1914"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="MESH:C536683", source="Orphanet:1914"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/meddra/10051445
property_value: exactMatch http://identifiers.org/mesh/C536683
property_value: exactMatch http://identifiers.org/snomedct/38323006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265374
property_value: exactMatch NCIT:C98906
property_value: exactMatch Orphanet:1914
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome xsd:anyURI {source="GARD:0008580"}

[Term]
id: MONDO:0016011
name: fetal alcohol syndrome
def: "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." [Orphanet:1915]
subset: ordo_malformation_syndrome {source="Orphanet:1915"}
synonym: "alcohol-related birth defects" RELATED [Orphanet:1915]
synonym: "alcohol-related neurodevelopmental disorder" EXACT [MONDO:0000394, Orphanet:1915]
synonym: "ARBD" EXACT [Orphanet:1915]
synonym: "ARND" EXACT [DOID:0050667, Orphanet:1915]
synonym: "FAS" EXACT [Orphanet:1915]
synonym: "FASD" BROAD [Orphanet:1915]
synonym: "fetal alcohol spectrum disorders" BROAD [Orphanet:1915]
synonym: "static encephalopathy" RELATED [DOID:0050667]
xref: DOID:0050665 {source="MONDO:equivalentTo"}
xref: DOID:0050667 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.0 {source="ORDO:1915/e", source="Orphanet:1915"}
xref: MedDRA:10016845 {source="ORDO:1915/e", source="Orphanet:1915"}
xref: NCIT:C84713 {source="MONDO:equivalentTo"}
xref: Orphanet:1915 {source="MONDO:equivalentTo"}
xref: SCTID:205788004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0015923 {source="NCIT:C84713", source="MONDO:equivalentTo", source="ORDO:1915/e", source="Orphanet:1915"}
is_a: MONDO:0000408 {source="DOID:0050665", source="DOID:0050667", source="linkedlifedata"} ! fetal alcohol spectrum disorder
is_a: MONDO:0002254 {source="MONDOLEX:0016011", source="NCIT:C84713"} ! syndromic disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015323 {source="Orphanet:1915"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1915"} ! toxic or drug-related embryofetopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0814154
property_value: exactMatch DOID:0050665
property_value: exactMatch DOID:0050667
property_value: exactMatch http://identifiers.org/meddra/10016845
property_value: exactMatch http://identifiers.org/mesh/D005310
property_value: exactMatch http://identifiers.org/snomedct/205788004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015923
property_value: exactMatch NCIT:C84713
property_value: exactMatch Orphanet:1915

[Term]
id: MONDO:0016012
name: diethylstilbestrol syndrome
def: "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." [Orphanet:1916]
subset: gard_rare {source="GARD:0001859"}
subset: ordo_disease {source="Orphanet:1916"}
synonym: "antenatal diethylstilbestrol exposure" RELATED [GARD:0001859]
synonym: "DES embryofetopathy" EXACT [Orphanet:1916]
synonym: "DES syndrome" EXACT [Orphanet:1916]
synonym: "diethylstilbestrol embryofetopathy" EXACT [Orphanet:1916]
synonym: "Distilbene embryofetopathy" EXACT [Orphanet:1916]
synonym: "fetal diethylstilbestrol syndrome" RELATED [GARD:0001859]
xref: GARD:0001859 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:1916/ntbt", source="Orphanet:1916"}
xref: MedDRA:10012780 {source="Orphanet:1916", source="ORDO:1916/e"}
xref: NCIT:C113422 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:1916 {source="MONDO:equivalentTo"}
xref: SCTID:716005004 {source="MONDO:kboom-pr-1.00/0.79/8.56", source="MONDO:equivalentTo"}
xref: UMLS:C0853695 {source="MONDO:equivalentTo", source="NCIT:C113422", source="Orphanet:1916", source="ORDO:1916/e"}
is_a: MONDO:0015829 {source="Orphanet:1916"} ! non-syndromic uterovaginal malformation
is_a: MONDO:0016677 {source="Orphanet:1916"} ! toxic or drug-related embryofetopathy
is_a: MONDO:0018403 {source="Orphanet:1916"} ! female infertility due to an implantation defect
property_value: exactMatch http://identifiers.org/meddra/10012780
property_value: exactMatch http://identifiers.org/snomedct/716005004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853695
property_value: exactMatch NCIT:C113422
property_value: exactMatch Orphanet:1916
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome xsd:anyURI {source="GARD:0001859"}

[Term]
id: MONDO:0016013
name: fetal methylmercury syndrome
def: "Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." [Orphanet:1917]
subset: gard_rare {source="GARD:0003575"}
subset: ordo_malformation_syndrome {source="Orphanet:1917"}
synonym: "Methyl mercury antenatal exposure" RELATED [GARD:0003575]
synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917]
synonym: "Minamata disease" RELATED [Orphanet:1917]
xref: GARD:0003575 {source="MONDO:equivalentTo"}
xref: ICD10:T56.1 {source="Orphanet:1917", source="ORDO:1917/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020262 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1917 {source="MONDO:equivalentTo"}
xref: SCTID:62110005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:1917"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1917"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/mesh/D020262
property_value: exactMatch http://identifiers.org/snomedct/62110005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265376
property_value: exactMatch Orphanet:1917
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome xsd:anyURI {source="GARD:0003575"}

[Term]
id: MONDO:0016014
name: fetal minoxidil syndrome
def: "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available." [Orphanet:1918]
subset: gard_rare {source="GARD:0002308"}
subset: ordo_malformation_syndrome {source="Orphanet:1918"}
synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308]
synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918]
xref: GARD:0002308 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="Orphanet:1918", source="ORDO:1918/ntbt"}
xref: ICD9:760.79 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1918 {source="MONDO:equivalentTo"}
xref: SCTID:254251003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432373 {source="Orphanet:1918", source="ORDO:1918/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:1918"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1918"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/254251003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432373
property_value: exactMatch Orphanet:1918
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome xsd:anyURI {source="GARD:0002308"}

[Term]
id: MONDO:0016015
name: phenobarbital embryopathy
def: "#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." [Orphanet:1919]
subset: ordo_malformation_syndrome {source="Orphanet:1919"}
synonym: "phenobarbital antenatal exposure" RELATED [GARD:0004315]
xref: GARD:0004315 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q86.8 {source="Orphanet:1919", source="ORDO:1919/ntbt"}
xref: Orphanet:1919 {source="MONDO:equivalentTo"}
xref: SCTID:715431002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275281 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:1919"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0018262 {source="Orphanet:1919"} ! fetal anticonvulsant syndrome
property_value: exactMatch http://identifiers.org/snomedct/715431002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275281
property_value: exactMatch Orphanet:1919

[Term]
id: MONDO:0016016
name: toluene embryopathy
def: "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome (see this term)." [Orphanet:1920]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1920"}
synonym: "Hersh Podruch Weisskopk syndrome" RELATED [MSH:C538114]
synonym: "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" RELATED [GARD:0002672]
synonym: "toluene embryopathy" EXACT [GARD:0002672, MSH:C538114]
xref: GARD:0002672 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:1920/ntbt", source="Orphanet:1920"}
xref: MESH:C538114 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="UMLS:C2931737"}
xref: Orphanet:1920 {source="MONDO:equivalentTo"}
xref: UMLS:C2931737 {source="GARD:0002672", source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:1920"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1920"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/mesh/C538114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931737
property_value: exactMatch Orphanet:1920

[Term]
id: MONDO:0016017
name: methimazole embryofetopathy
def: "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis (see these terms). Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." [Orphanet:1923]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:1923"}
synonym: "fetal methimazole syndrome" RELATED [GARD:0003573]
synonym: "Methimazole antenatal exposure" RELATED [GARD:0003573]
synonym: "methimazole embryofetopathy" EXACT [GARD:0003573]
synonym: "Methimazole/carbimazole embryofetopathy" EXACT [GARD:0003573, Orphanet:1923]
synonym: "Methimazole/carbimazole embryopathy" EXACT [GARD:0003573, Orphanet:1923]
synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923]
synonym: "MMI/CMZ embryopathy" EXACT [Orphanet:1923]
xref: GARD:0003573 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:1923/ntbt", source="Orphanet:1923"}
xref: Orphanet:1923 {source="MONDO:equivalentTo", source="GARD:0003573"}
xref: SCTID:724144006 {source="MONDO:equivalentTo"}
xref: UMLS:C4510379 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0016017"} ! syndromic disease
is_a: MONDO:0015323 {source="Orphanet:1923"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:1923"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/724144006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510379
property_value: exactMatch Orphanet:1923
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure xsd:anyURI {source="GARD:0003573"}

[Term]
id: MONDO:0016018
name: diabetic embryopathy
def: "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." [Orphanet:1926]
subset: ordo_malformation_syndrome {source="Orphanet:1926"}
xref: ICD10:P00.4 {source="ORDO:1926/btnt", source="Orphanet:1926"}
xref: NCIT:C113485 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:1926 {source="MONDO:equivalentTo"}
xref: SCTID:716020005 {source="MONDO:kboom-pr-1.00/0.84/14.86", source="MONDO:equivalentTo"}
xref: UMLS:C3830518 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C113485"}
is_a: MONDO:0016678 {source="Orphanet:1926"} ! maternal disease-related embryofetopathy
relationship: excluded_subClassOf MONDO:0015323 {source="Orphanet:1926"} ! teratogenic Pierre Robin syndrome
relationship: excluded_subClassOf MONDO:0016330 {source="Orphanet:1926"} ! non-familial hypertrophic cardiomyopathy
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:1926"} ! overgrowth syndrome
property_value: exactMatch http://identifiers.org/snomedct/716020005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3830518
property_value: exactMatch NCIT:C113485
property_value: exactMatch Orphanet:1926

[Term]
id: MONDO:0016019
name: Rasmussen subacute encephalitis
def: "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." [NCIT:C125384]
subset: ordo_disease {source="Orphanet:1929"}
synonym: "CFE" EXACT [NCIT:C125384]
synonym: "chronic focal encephalitis" EXACT [NCIT:C125384]
synonym: "Rasmussen encephalitis" EXACT [NCIT:C125384]
synonym: "Rasmussen syndrome" EXACT [Orphanet:1929]
synonym: "RE" RELATED [GARD:0007527]
xref: GARD:0007527 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G04.8 {source="Orphanet:1929", source="ORDO:1929/ntbt"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535291 {source="Orphanet:1929", source="ORDO:1929/e", source="MONDO:equivalentTo"}
xref: NCIT:C125384 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:1929 {source="MONDO:equivalentTo"}
xref: SCTID:230191005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.17"}
xref: UMLS:C2930868 {source="Orphanet:1929", source="ORDO:1929/e", source="NCIT:C125384", source="MONDO:equivalentTo"}
is_a: MONDO:0015657 {source="Orphanet:1929"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0020068 {source="Orphanet:1929"} ! postinfectious encephalitis
is_a: MONDO:0100028 {source="http://orcid.org/0000-0001-8486-0558"} ! immune epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393484
property_value: exactMatch http://identifiers.org/mesh/C535291
property_value: exactMatch http://identifiers.org/snomedct/230191005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930868
property_value: exactMatch NCIT:C125384
property_value: exactMatch Orphanet:1929

[Term]
id: MONDO:0016020
name: frontal encephalocele
subset: ordo_clinical_subtype {source="Orphanet:1931"}
synonym: "anterior encephalocele" EXACT [Orphanet:1931]
xref: ICD10:Q01.0 {source="MONDO:equivalentTo", source="ORDO:1931/e", source="Orphanet:1931", source="ORDO:1931/specific"}
xref: Orphanet:1931 {source="MONDO:equivalentTo"}
xref: SCTID:253103006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016057 {source="MONDOLEX:0016020", source="Orphanet:1931"} ! isolated encephalocele
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431289
property_value: exactMatch http://identifiers.org/snomedct/253103006
property_value: exactMatch Orphanet:1931

[Term]
id: MONDO:0016021
name: early infantile epileptic encephalopathy
def: "Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." [Orphanet:1934]
comment: Editor note: in ORDO this is classified as ARX-related despite this encompassing multiple OMIMs with different etiologies
subset: clingen
subset: ordo_clinical_syndrome {source="Orphanet:1934"}
synonym: "early infantile epileptic encephalopathy" EXACT [DOID:0050709]
synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [DOID:0050709]
synonym: "early infantile epileptic encephalopathy with suppression-bursts" EXACT [Orphanet:1934]
synonym: "EIEE" EXACT [Orphanet:1934]
synonym: "epileptic encephalopathy, early infantile" EXACT [DOID:2481]
synonym: "epileptic encephalopathy, early infantile, 15" EXACT EXCLUDE [DOID:0050709]
synonym: "epileptic encephalopathy, infantile" EXACT [DOID:2481]
synonym: "infantile epileptic encephalopathy" EXACT [MONDO:0006508]
synonym: "infantile spasm" EXACT [DOID:2481]
synonym: "Ohtahara syndrome" EXACT [MONDO:0000418, Orphanet:1934]
xref: DOID:0050709 {source="MONDO:equivalentTo"}
xref: DOID:2481 {source="MONDO:equivalentTo", source="EFO:1000643"}
xref: EFO:1000643 {source="MONDO:equivalentTo"}
xref: GARD:0009255 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G40.3 {source="ORDO:1934/attributed", source="ORDO:1934/ntbt", source="Orphanet:1934"}
xref: ICD10:G40.82 {source="DOID:2481"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:345.6 {source="DOID:2481"}
xref: MedDRA:10071545 {source="Orphanet:1934", source="ORDO:1934/e"}
xref: NCIT:C122814 {source="MONDO:equivalentTo"}
xref: OMIMPS:308350 {source="MONDO:pnr", source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="MONDO:equivalentTo"}
xref: SCTID:230429005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.21"}
is_a: MONDO:0005579 {source="DOID:2481", source="linkedlifedata/inferred"} ! epilepsy, idiopathic generalized
is_a: MONDO:0015922 {source="Orphanet:1934"} ! channelopathy with epilepsy
is_a: MONDO:0100022 {source="Orphanet:1934", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:1934"} ! ARX-related epileptic encephalopathy
property_value: closeMatch http://identifiers.org/mesh/D013036
property_value: closeMatch http://identifiers.org/snomedct/155042008
property_value: closeMatch http://identifiers.org/snomedct/193014002
property_value: closeMatch http://identifiers.org/snomedct/193015001
property_value: closeMatch http://identifiers.org/snomedct/193016000
property_value: closeMatch http://identifiers.org/snomedct/288197007
property_value: exactMatch DOID:0050709
property_value: exactMatch DOID:2481
property_value: exactMatch http://identifiers.org/meddra/10071545
property_value: exactMatch http://identifiers.org/snomedct/230429005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393706
property_value: exactMatch NCIT:C122814
property_value: exactMatch Orphanet:1934

[Term]
id: MONDO:0016022
name: early myoclonic encephalopathy
def: "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." [Orphanet:1935]
subset: ordo_clinical_syndrome {source="Orphanet:1935"}
synonym: "early myoclonic encephalopathy" EXACT [MONDO:0002506]
synonym: "early myoclonic encephalopathy with suppression-bursts" EXACT [Orphanet:1935]
synonym: "eme" EXACT [NCIT:C116593]
synonym: "epileptic seizures - myoclonic" EXACT [DOID:308]
synonym: "epileptic seizures, myoclonic" EXACT [DOID:308, MTHICD9_2006:345.1]
synonym: "myoclonia epileptica" EXACT [CSP2005:0485-7984, DOID:308]
synonym: "myoclonic epilepsy" EXACT [DOID:308]
synonym: "myoclonic seizure" EXACT [DOID:308]
synonym: "myoclonic seizure disorder" EXACT [DOID:308]
synonym: "myoclonus epilepsy" RELATED [GARD:0007142]
xref: DOID:308 {source="MONDO:equivalentTo"}
xref: EFO:1001900 {source="MONDO:equivalentTo"}
xref: GARD:0007142 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="ORDO:1935/inclusion", source="ORDO:1935/e", source="Orphanet:1935"}
xref: NCIT:C116593 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:1935 {source="MONDO:equivalentTo"}
xref: SCTID:44423001 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0014550 {source="MONDO:equivalentTo", source="DOID:308", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0270855 {source="NCIT:C116593", source="MONDO:equivalentTo", source="ORDO:1935/e", source="Orphanet:1935"}
is_a: MONDO:0000412 {source="DOID:308"} ! neonatal period electroclinical syndrome
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016801 {source="Orphanet:1935"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0100022 {source="Orphanet:1935", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: closeMatch http://identifiers.org/mesh/D004831
property_value: closeMatch http://identifiers.org/snomedct/192847001
property_value: closeMatch http://identifiers.org/snomedct/192992007
property_value: closeMatch http://identifiers.org/snomedct/37356005
property_value: exactMatch DOID:308
property_value: exactMatch http://identifiers.org/snomedct/44423001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270855
property_value: exactMatch NCIT:C116593
property_value: exactMatch Orphanet:1935

[Term]
id: MONDO:0016023
name: ocular coloboma
comment: Editor note: todo merge
subset: ordo_group_of_disorders {source="Orphanet:194"}
xref: Orphanet:194 {source="MONDO:equivalentTo"}
is_a: MONDO:0001476 ! coloboma
is_a: MONDO:0020149 {source="Orphanet:194"} ! rare eye disease due to a differentiation anomaly
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:194"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009363
property_value: exactMatch Orphanet:194

[Term]
id: MONDO:0016024
name: shoulder and thorax deformity-congenital heart disease syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1940"}
xref: ICD10:Q87.8 {source="ORDO:1940/attributed", source="ORDO:1940/ntbt", source="Orphanet:1940"}
xref: Orphanet:1940 {source="MONDO:equivalentTo"}
is_a: MONDO:0015929 {source="Orphanet:1940"} ! thoracic malformation
is_a: MONDO:0017432 {source="Orphanet:1940"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1940", source="Orphanet:1940/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch Orphanet:1940

[Term]
id: MONDO:0016025
name: myoclonic-astastic epilepsy
def: "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." [Orphanet:1942]
subset: gard_rare
subset: ordo_disease {source="Orphanet:1942"}
synonym: "Doose syndrome" EXACT [GARD:0002169, Orphanet:1942]
synonym: "EMAS" EXACT [Orphanet:1942]
synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, Orphanet:1942]
synonym: "epilepsy with myoclonic-atonic seizures" EXACT [Orphanet:1942]
synonym: "epilepsy with myoclono-astatic crisis" RELATED [GARD:0002169]
synonym: "mae" RELATED [Orphanet:1942]
synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169]
synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942]
synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942]
xref: GARD:0002169 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="ORDO:1942/attributed", source="ORDO:1942/ntbt", source="Orphanet:1942"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo"}
xref: SCTID:230421008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0016025"} ! syndromic disease
is_a: MONDO:0020072 {source="Orphanet:1942", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393702
property_value: exactMatch http://identifiers.org/snomedct/230421008
property_value: exactMatch Orphanet:1942
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy xsd:anyURI {source="GARD:0002169"}

[Term]
id: MONDO:0016026
name: infant epilepsy with migrant focal crisis
def: "Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown." [Orphanet:1943]
subset: gard_rare {source="GARD:0002995"}
subset: ordo_disease {source="Orphanet:1943"}
xref: GARD:0002995 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="ORDO:1943/ntbt", source="Orphanet:1943"}
xref: Orphanet:1943 {source="MONDO:equivalentTo"}
xref: SCTID:724274009 {source="MONDO:equivalentTo"}
xref: UMLS:C4510564 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020071 {source="Orphanet:1943"} ! infantile epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/724274009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510564
property_value: exactMatch Orphanet:1943
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis xsd:anyURI {source="GARD:0002995"}

[Term]
id: MONDO:0016027
name: benign neonatal seizures
def: "Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." [Orphanet:1949]
subset: ordo_disease {source="Orphanet:1949"}
synonym: "benign Familal neonatal seizures" EXACT [NCIT:C117307]
synonym: "benign familial convulsion" EXACT [NCIT:C117307]
synonym: "benign familial convulsions" EXACT [NCIT:C117307]
synonym: "benign familial neonatal convulsions" EXACT [Orphanet:1949]
synonym: "benign familial neonatal seizures" EXACT [DOID:14264, Orphanet:1949]
synonym: "benign neonatal convulsions" EXACT [DOID:14264]
synonym: "BFNS" EXACT [Orphanet:1949]
synonym: "seizures, benign familial neonatal" EXACT [OMIMPS:121200]
xref: DOID:14264 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="ORDO:1949/attributed", source="ORDO:1949/ntbt", source="Orphanet:1949"}
xref: MedDRA:10067866 {source="Orphanet:1949", source="ORDO:1949/e"}
xref: NCIT:C117307 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIMPS:121200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:1949 {source="MONDO:equivalentTo", source="DOID:14264"}
xref: SCTID:38281008 {source="MONDO:equivalentTo", source="DOID:14264", source="MONDO:kboom-pr-0.88/0.75/0.20"}
is_a: MONDO:0000412 {source="DOID:14264"} ! neonatal period electroclinical syndrome
is_a: MONDO:0020070 {source="Orphanet:1949"} ! neonatal epilepsy syndrome
property_value: closeMatch http://identifiers.org/snomedct/276724002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270851
property_value: closeMatch NCIT:C84593
property_value: exactMatch DOID:14264
property_value: exactMatch http://identifiers.org/meddra/10067866
property_value: exactMatch http://identifiers.org/mesh/C535466
property_value: exactMatch http://identifiers.org/mesh/D020936
property_value: exactMatch http://identifiers.org/snomedct/38281008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930911
property_value: exactMatch NCIT:C117307
property_value: exactMatch Orphanet:1949

[Term]
id: MONDO:0016028
name: erythromelalgia
def: "Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia (see this term) is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia (see this term), hypercholesterolemia, mushroom or mercury poisoning (see this term), and some autoimmune disorders." [Orphanet:1956]
subset: ordo_disease {source="Orphanet:1956"}
xref: COHD:134380 {source="MONDO:equivalentTo"}
xref: DOID:9240 {source="MONDO:equivalentTo"}
xref: ICD10:I73.8 {source="ORDO:1956/inclusion", source="ORDO:1956/ntbt", source="Orphanet:1956"}
xref: ICD10:I73.81 {source="MONDO:equivalentTo", source="DOID:9240"}
xref: ICD9:443.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:9240"}
xref: MedDRA:10015284 {source="Orphanet:1956", source="ORDO:1956/e"}
xref: MESH:D004916 {source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956", source="ORDO:1956/e"}
xref: NCIT:C34593 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:9240"}
xref: Orphanet:1956 {source="MONDO:equivalentTo"}
xref: SCTID:37151006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9240"}
xref: UMLS:C0014804 {source="NCIT:C34593", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956", source="ORDO:1956/e"}
is_a: MONDO:0005294 {source="DOID:9240", source="MESH:D004916"} ! peripheral vascular disease
is_a: MONDO:0015365 {source="Orphanet:1956"} ! autosomal dominant hereditary sensory and autonomic neuropathy
is_a: MONDO:0019299 {source="Orphanet:1956"} ! unclassified genetic skin disorder
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/snomedct/238777005
property_value: exactMatch DOID:9240
property_value: exactMatch http://identifiers.org/meddra/10015284
property_value: exactMatch http://identifiers.org/mesh/D004916
property_value: exactMatch http://identifiers.org/snomedct/37151006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014804
property_value: exactMatch NCIT:C34593
property_value: exactMatch Orphanet:1956

[Term]
id: MONDO:0016029
name: esthesioneuroblastoma
def: "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." [Orphanet:1957]
subset: ordo_disease {source="Orphanet:1957"}
synonym: "olfactory neuroblastoma" EXACT [Orphanet:1957]
xref: GARD:0002197 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C30.0 {source="ORDO:1957/ntbt", source="Orphanet:1957"}
xref: Orphanet:1957 {source="MONDO:equivalentTo"}
xref: SCTID:422886007 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0016713 {source="Orphanet:1957"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206717
property_value: exactMatch http://identifiers.org/snomedct/422886007
property_value: exactMatch Orphanet:1957

[Term]
id: MONDO:0016030
name: Evans syndrome
def: "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) (see these terms) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." [Orphanet:1959]
subset: gard_rare {source="GARD:0006389"}
subset: ordo_disease {source="Orphanet:1959"}
synonym: "autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [Orphanet:1959]
synonym: "Evan syndrome" RELATED [GARD:0006389]
synonym: "Evans' syndrome" EXACT [MONDO:0004683]
synonym: "immune pancytopenia" EXACT [Orphanet:1959]
xref: COHD:436956 {source="MONDO:equivalentTo"}
xref: DOID:8931 {source="MONDO:equivalentTo"}
xref: GARD:0006389 {source="MONDO:equivalentTo"}
xref: ICD10:D69.3 {source="ORDO:1959/ntbt", source="Orphanet:1959"}
xref: ICD10:D69.41 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: ICD9:287.32 {source="DOID:8931", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10053873 {source="ORDO:1959/e", source="Orphanet:1959"}
xref: MESH:C536380 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: NCIT:C61284 {source="DOID:8931", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:1959 {source="MONDO:equivalentTo"}
xref: SCTID:75331009 {source="DOID:8931", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0272126 {source="DOID:8931", source="MONDO:equivalentTo", source="NCIT:C61284", source="ORDO:1959/e", source="Orphanet:1959"}
is_a: MONDO:0002254 {source="MONDOLEX:0016030", source="NCIT:C61284"} ! syndromic disease
is_a: MONDO:0004680 {source="DOID:8931"} ! primary thrombocytopenia
is_a: MONDO:0019098 {source="MONDOLEX:0016030", source="Orphanet:1959", source="linkedlifedata"} ! autoimmune thrombocytopenia
is_a: MONDO:0020108 {source="MESH:C536380", source="MONDOLEX:0016030", source="Orphanet:1959", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune hemolytic anemia
property_value: closeMatch http://identifiers.org/snomedct/191315003
property_value: exactMatch DOID:8931
property_value: exactMatch http://identifiers.org/meddra/10053873
property_value: exactMatch http://identifiers.org/mesh/C536380
property_value: exactMatch http://identifiers.org/snomedct/75331009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272126
property_value: exactMatch NCIT:C61284
property_value: exactMatch Orphanet:1959
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome xsd:anyURI {source="GARD:0006389"}

[Term]
id: MONDO:0016031
name: facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1969"}
synonym: "faces syndrome" EXACT [Orphanet:1969]
synonym: "facial features (unique), anorexia, cachexia, eye and skin anomalies" RELATED [GARD:0002221]
synonym: "Friedman-Goodman syndrome" EXACT [Orphanet:1969]
xref: GARD:0002221 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:1969", source="ORDO:1969/attributed", source="ORDO:1969/ntbt"}
xref: MESH:C536384 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:1969", source="ORDO:1969/e"}
xref: Orphanet:1969 {source="MONDO:equivalentTo"}
xref: UMLS:C2931183 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:1969", source="ORDO:1969/e"}
is_a: MONDO:0043008 {source="Orphanet:1969"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931183
property_value: exactMatch Orphanet:1969

[Term]
id: MONDO:0016032
name: femoral agenesis/hypoplasia
def: "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." [Orphanet:1987]
subset: ordo_malformation_syndrome {source="Orphanet:1987"}
synonym: "congenital short femur" EXACT [Orphanet:1987]
synonym: "femoral intercalary meromelia" EXACT [Orphanet:1987]
xref: GARD:0001503 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q72.4 {source="Orphanet:1987", source="ORDO:1987/e", source="ORDO:1987/specific"}
xref: ICD9:755.34 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:1987 {source="MONDO:equivalentTo"}
xref: SCTID:93255008 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
is_a: MONDO:0019713 {source="Orphanet:1987", source="Orphanet:1987/inferred"} ! non-syndromic limb reduction defect
property_value: exactMatch http://identifiers.org/snomedct/93255008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345375
property_value: exactMatch Orphanet:1987

[Term]
id: MONDO:0016033
name: Cornelia de Lange syndrome
def: "A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." []
subset: ordo_malformation_syndrome {source="Orphanet:199"}
synonym: "Brachmann de Lange syndrome" EXACT [CSP2005:2403-8925, DOID:11725]
synonym: "Brachmann-de Lange syndrome" EXACT [Orphanet:199]
synonym: "CDLS" RELATED [GARD:0010109]
synonym: "De Lange syndrome" EXACT [DOID:11725]
xref: DOID:11725 {source="MONDO:equivalentTo"}
xref: GARD:0010109 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:199/inclusion", source="ORDO:199/ntbt", source="DOID:11725", source="Orphanet:199"}
xref: MedDRA:10056354 {source="ORDO:199/e", source="Orphanet:199"}
xref: NCIT:C75016 {source="DOID:11725", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:122470 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="DOID:11725", source="MONDO:equivalentTo"}
xref: UMLS:C0270972 {source="DOID:11725", source="MONDO:equivalentTo", source="ORDO:199/e", source="NCIT:C75016", source="Orphanet:199"}
xref: UMLS:CN239271 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:199"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015322 {source="Orphanet:199"} ! Pierre Robin syndrome associated with bone disease
is_a: MONDO:0015329 {source="Orphanet:199"} ! malformation syndrome with short stature
is_a: MONDO:0015880 {source="Orphanet:199"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0017432 {source="Orphanet:199"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:199", source="Orphanet:199/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020186 {source="Orphanet:199"} ! obsolete eyebrow hypertrophy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0020169 {source="Orphanet:199"} ! rare disorder with ptosis
relationship: excluded_subClassOf MONDO:0020253 {source="Orphanet:199"} ! syndrome with a symptomatic strabismus
property_value: exactMatch DOID:11725
property_value: exactMatch http://identifiers.org/meddra/10056354
property_value: exactMatch http://identifiers.org/mesh/D003635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239271
property_value: exactMatch NCIT:C75016
property_value: exactMatch Orphanet:199

[Term]
id: MONDO:0016034
name: cleft lip with or without cleft palate
subset: ordo_group_of_disorders {source="Orphanet:1991"}
synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991]
xref: ICD10:Q36.0 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q36.1 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q36.9 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.0 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.1 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.2 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.3 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.4 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.5 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.8 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: ICD10:Q37.9 {source="Orphanet:1991", source="ORDO:1991/btnt"}
xref: Orphanet:1991 {source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:1991"} ! rare head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:1991"} ! rare maxillo-facial surgical disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008924
property_value: exactMatch Orphanet:1991

[Term]
id: MONDO:0016035
name: Nelson syndrome
def: "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." [NCIT:P378]
subset: gard_rare {source="GARD:0007170"}
subset: ordo_disease {source="Orphanet:199244"}
synonym: "dermal Ridges" RELATED [GARD:0007170]
synonym: "Nelson's syndrome" EXACT [DOID:4968]
synonym: "Ridges-off-the-end syndrome" RELATED [GARD:0007170]
xref: DOID:4968 {source="MONDO:equivalentTo"}
xref: GARD:0007170 {source="MONDO:equivalentTo"}
xref: ICD10:E24.1 {source="Orphanet:199244", source="ORDO:199244/e", source="DOID:4968"}
xref: MedDRA:10028913 {source="Orphanet:199244", source="ORDO:199244/e"}
xref: MESH:C531754 {source="MONDO:equivalentTo"}
xref: MESH:D009347 {source="Orphanet:199244", source="ORDO:199244/e", source="MONDO:equivalentTo", source="DOID:4968", source="MONDO:ontobio"}
xref: NCIT:C84917 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4968"}
xref: Orphanet:199244 {source="MONDO:equivalentTo"}
xref: SCTID:43019009 {source="MONDO:kboom-pr-1.00/0.85/15.31", source="MONDO:equivalentTo", source="DOID:4968"}
xref: UMLS:C0027577 {source="Orphanet:199244", source="ORDO:199244/e", source="MONDO:equivalentTo", source="NCIT:C84917", source="DOID:4968"}
is_a: MONDO:0003429 {source="Orphanet:199244"} ! functioning pituitary gland adenoma
property_value: closeMatch http://identifiers.org/omim/125530
property_value: closeMatch http://identifiers.org/snomedct/190503006
property_value: exactMatch DOID:4968
property_value: exactMatch http://identifiers.org/meddra/10028913
property_value: exactMatch http://identifiers.org/mesh/C531754
property_value: exactMatch http://identifiers.org/mesh/D009347
property_value: exactMatch http://identifiers.org/snomedct/43019009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027577
property_value: exactMatch NCIT:C84917
property_value: exactMatch Orphanet:199244
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome xsd:anyURI {source="GARD:0007170"}

[Term]
id: MONDO:0016036
name: Ledderhose disease
def: "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture , knuckle pads, or Peyronie disease . Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal ( fasciectomy ) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." [https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease]
subset: gard_rare {source="GARD:0006873"}
subset: ordo_disease {source="Orphanet:199251"}
synonym: "Lederhose disease" RELATED [GARD:0006873]
synonym: "plantar fibromatosis" EXACT [Orphanet:199251]
xref: GARD:0006873 {source="MONDO:equivalentTo"}
xref: ICD10:M72.2 {source="Orphanet:199251", source="ORDO:199251/e"}
xref: MedDRA:10035154 {source="Orphanet:199251", source="ORDO:199251/e"}
xref: MESH:C537000 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:199251", source="ORDO:199251/e"}
xref: Orphanet:199251 {source="MONDO:equivalentTo"}
is_a: MONDO:0016037 {source="Orphanet:199251"} ! superficial Fibromatosis
property_value: exactMatch http://identifiers.org/meddra/10035154
property_value: exactMatch http://identifiers.org/mesh/C537000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158360
property_value: exactMatch Orphanet:199251
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease xsd:anyURI {source="GARD:0006873"}

[Term]
id: MONDO:0016037
name: superficial Fibromatosis
def: "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." [NCIT:C6814]
subset: ordo_group_of_disorders {source="Orphanet:199257"}
synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814]
xref: EFO:1000556 {source="MONDO:equivalentTo"}
xref: ICD10:M72.8 {source="Orphanet:199257", source="ORDO:199257/ntbt"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="exact-label-match"}
xref: Orphanet:199257 {source="MONDO:equivalentTo"}
xref: SCTID:238853007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.22"}
xref: UMLS:C0406571 {source="Orphanet:199257", source="ORDO:199257/e", source="MONDO:equivalentTo", source="NCIT:C6814"}
is_a: MONDO:0005031 {source="EFO:1000556", source="NCIT:C6814"} ! fibromatosis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:199257"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/snomedct/238853007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406571
property_value: exactMatch NCIT:C6814
property_value: exactMatch Orphanet:199257

[Term]
id: MONDO:0016038
name: calcified aponeurotic fibroma
def: "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." [NCIT:C4818]
subset: ordo_disease {source="Orphanet:199260"}
synonym: "calcifying aponeurotic fibroma" RELATED [Orphanet:199260]
synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818]
synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260]
synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818]
synonym: "Keasby tumor" EXACT [Orphanet:199260]
xref: ICD10:M72.8 {source="Orphanet:199260", source="ORDO:199260/ntbt"}
xref: NCIT:C4818 {source="MONDO:equivalentTo"}
xref: Orphanet:199260 {source="MONDO:equivalentTo"}
xref: SCTID:703614006 {source="MONDO:equivalentTo"}
xref: UMLS:C0553647 {source="MONDO:equivalentTo", source="Orphanet:199260", source="ORDO:199260/e"}
is_a: MONDO:0005167 {source="NCIT:C4818"} ! fibroma
is_a: MONDO:0016037 {source="Orphanet:199260"} ! superficial Fibromatosis
property_value: exactMatch http://identifiers.org/snomedct/703614006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553647
property_value: exactMatch NCIT:C4818
property_value: exactMatch Orphanet:199260

[Term]
id: MONDO:0016039
name: infantile digital fibromatosis
subset: gard_rare {source="GARD:0008487"}
subset: ordo_disease {source="Orphanet:199267"}
synonym: "asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes" RELATED [GARD:0008487]
synonym: "IDF" RELATED [GARD:0008487]
synonym: "inclusion body fibromatosis" EXACT [Orphanet:199267]
synonym: "recurring digital fibrous tumor of childhood" EXACT [Orphanet:199267]
synonym: "Reye tumor" EXACT [Orphanet:199267]
xref: GARD:0008487 {source="MONDO:equivalentTo"}
xref: ICD10:M72.8 {source="Orphanet:199267", source="ORDO:199267/ntbt"}
xref: ICD9:238.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:199267 {source="MONDO:equivalentTo"}
xref: SCTID:399903008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1318562 {source="ORDO:199267/e", source="Orphanet:199267", source="MONDO:equivalentTo"}
is_a: MONDO:0016037 {source="Orphanet:199267", source="linkedlifedata"} ! superficial Fibromatosis
property_value: exactMatch http://identifiers.org/snomedct/399903008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318562
property_value: exactMatch Orphanet:199267
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis xsd:anyURI {source="GARD:0008487"}

[Term]
id: MONDO:0016040
name: harlequin syndrome
def: "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." [Orphanet:199282]
subset: gard_rare {source="GARD:0008610"}
subset: ordo_disease {source="Orphanet:199282"}
synonym: "progressive isolated segmental anhidrosis" EXACT [Orphanet:199282]
synonym: "sudden onset of unilateral flushing and sweating" RELATED [GARD:0008610]
synonym: "unilateral loss of facial flushing and sweating with contralateral anhidrosis" RELATED [GARD:0008610]
xref: GARD:0008610 {source="MONDO:equivalentTo"}
xref: ICD10:G90.8 {source="Orphanet:199282", source="ORDO:199282/attributed", source="ORDO:199282/ntbt"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535634 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:199282", source="ORDO:199282/e"}
xref: Orphanet:199282 {source="MONDO:equivalentTo"}
xref: SCTID:14070001000004105 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2029348 {source="MONDO:equivalentTo", source="Orphanet:199282", source="ORDO:199282/e"}
is_a: MONDO:0001292 {source="Orphanet:199282"} ! autonomic nervous system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0018557"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C535634
property_value: exactMatch http://identifiers.org/snomedct/14070001000004105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2029348
property_value: exactMatch Orphanet:199282
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome xsd:anyURI {source="GARD:0008610"}

[Term]
id: MONDO:0016041
name: congenital microgastria
def: "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." [Orphanet:199293]
subset: ordo_morphological_anomaly {source="Orphanet:199293"}
xref: ICD10:Q40.2 {source="Orphanet:199293", source="ORDO:199293/ntbt"}
xref: ICD9:750.7 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:199293 {source="MONDO:equivalentTo"}
xref: SCTID:83714006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015209 {source="Orphanet:199293"} ! non-syndromic gastroduodenal malformation
property_value: exactMatch http://identifiers.org/snomedct/83714006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266150
property_value: exactMatch Orphanet:199293

[Term]
id: MONDO:0016042
name: late-onset isolated ACTH deficiency
def: "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." [Orphanet:199299]
subset: ordo_disease {source="Orphanet:199299"}
xref: ICD10:E23.6 {source="Orphanet:199299", source="ORDO:199299/ntbt"}
xref: Orphanet:199299 {source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone deficiency
property_value: exactMatch Orphanet:199299

[Term]
id: MONDO:0016043
name: isolated cleft lip
def: "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." [Orphanet:199302]
subset: ordo_morphological_anomaly {source="Orphanet:199302"}
synonym: "isolated cleft lip (disease)" EXACT []
synonym: "nonsyndromic cleft lip (disease)" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q36.0 {source="ORDO:199302/btnt", source="Orphanet:199302"}
xref: ICD10:Q36.1 {source="ORDO:199302/btnt", source="Orphanet:199302"}
xref: ICD10:Q36.9 {source="ORDO:199302/btnt", source="Orphanet:199302"}
xref: MedDRA:10009259 {source="ORDO:199302/e", source="Orphanet:199302"}
xref: Orphanet:199302 {source="MONDO:equivalentTo"}
is_a: MONDO:0004747 ! cleft lip (disease)
is_a: MONDO:0016034 {source="Orphanet:0016043", source="Orphanet:199302"} ! cleft lip with or without cleft palate
intersection_of: MONDO:0004747 ! cleft lip (disease)
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/meddra/10009259
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008924
property_value: exactMatch Orphanet:199302

[Term]
id: MONDO:0016044
name: cleft lip/palate
def: "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." [Orphanet:199306]
subset: ordo_morphological_anomaly {source="Orphanet:199306"}
synonym: "alveolar cleft lip and palate" EXACT [Orphanet:199306]
synonym: "cleft lip and palate" EXACT [Orphanet:199306]
synonym: "cleft lip-alveolus-palate syndrome" EXACT [Orphanet:199306]
synonym: "FLP" EXACT [Orphanet:199306]
xref: ICD10:Q37.0 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.1 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.2 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.3 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.4 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.5 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.8 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD10:Q37.9 {source="ORDO:199306/btnt", source="Orphanet:199306"}
xref: ICD9:749.20 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:749.25 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10009260 {source="ORDO:199306/e", source="Orphanet:199306"}
xref: Orphanet:199306 {source="MONDO:equivalentTo"}
xref: SCTID:66948001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0016034 {source="Orphanet:199306"} ! cleft lip with or without cleft palate
property_value: exactMatch http://identifiers.org/meddra/10009260
property_value: exactMatch http://identifiers.org/snomedct/66948001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158646
property_value: exactMatch Orphanet:199306

[Term]
id: MONDO:0016045
name: tetragametic chimerism
def: "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." [Orphanet:199310]
subset: ordo_malformation_syndrome {source="Orphanet:199310"}
synonym: "46,XX/46,XY chimerism" EXACT [Orphanet:199310]
xref: ICD10:Q99.0 {source="ORDO:199310/specific", source="Orphanet:199310", source="ORDO:199310/e"}
xref: Orphanet:199310 {source="MONDO:equivalentTo"}
xref: UMLS:CN200724 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017006 {source="Orphanet:199310"} ! X and Y chromosomal anomaly
is_a: MONDO:0017975 {source="Orphanet:199310"} ! sex chromosome disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:199310"} ! syndrome with disorder of sex development of gynecological interest
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200724
property_value: exactMatch Orphanet:199310

[Term]
id: MONDO:0016046
name: familial clubfoot with or without associated lower limb anomalies
def: "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." [Orphanet:199315]
subset: ordo_malformation_syndrome {source="Orphanet:199315"}
xref: ICD10:Q66.8 {source="ORDO:199315/attributed", source="ORDO:199315/ntbt", source="Orphanet:199315"}
xref: Orphanet:199315 {source="MONDO:equivalentTo"}
xref: UMLS:CN200725 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:199315"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="Orphanet:199315"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200725
property_value: exactMatch Orphanet:199315

[Term]
id: MONDO:0016047
name: endophthalmitis
def: "An infectious process affecting the internal structures of the eye." [NCIT:C34586]
subset: ordo_disease {source="Orphanet:199323"}
xref: COHD:438411 {source="MONDO:equivalentTo"}
xref: DOID:4692 {source="MONDO:equivalentTo"}
xref: ICD10:H44.0 {source="Orphanet:199323", source="ORDO:199323/btnt", source="MONDO:superClassOf"}
xref: ICD10:H44.1 {source="Orphanet:199323", source="ORDO:199323/btnt"}
xref: ICD9:360.19 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10014801 {source="Orphanet:199323", source="ORDO:199323/e"}
xref: MESH:D009877 {source="Orphanet:199323", source="ORDO:199323/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4692"}
xref: NCIT:C34586 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:4692"}
xref: Orphanet:199323 {source="MONDO:equivalentTo"}
xref: SCTID:1847009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4692"}
xref: UMLS:C0014236 {source="Orphanet:199323", source="ORDO:199323/e", source="MONDO:equivalentTo", source="NCIT:C34586", source="DOID:4692"}
is_a: MONDO:0001524 {source="DOID:4692"} ! globe disease
is_a: MONDO:0015937 {source="Orphanet:199323"} ! rare inflammatory eye disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34586/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
is_a: MONDO:0043885 ! eye infectious disease
property_value: closeMatch http://identifiers.org/snomedct/123052006
property_value: closeMatch http://identifiers.org/snomedct/128295000
property_value: closeMatch http://identifiers.org/snomedct/82255004
property_value: exactMatch DOID:4692
property_value: exactMatch http://identifiers.org/meddra/10014801
property_value: exactMatch http://identifiers.org/mesh/D009877
property_value: exactMatch http://identifiers.org/snomedct/1847009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014236
property_value: exactMatch NCIT:C34586
property_value: exactMatch Orphanet:199323

[Term]
id: MONDO:0016048
name: isolated autosomal dominant hypomagnesemia, Glaudemans type
def: "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." [Orphanet:199326]
subset: ordo_disease {source="Orphanet:199326"}
xref: ICD10:E83.4 {source="ORDO:199326/attributed", source="ORDO:199326/ntbt", source="Orphanet:199326"}
xref: Orphanet:199326 {source="MONDO:equivalentTo"}
xref: SCTID:722008003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:CN200728 {source="MONDO:equivalentTo"}
is_a: MONDO:0017626 {source="Orphanet:199326"} ! familial primary hypomagnesemia with normocalcuria
property_value: exactMatch http://identifiers.org/snomedct/722008003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200728
property_value: exactMatch Orphanet:199326

[Term]
id: MONDO:0016049
name: congenital myopathy, Paradas type
def: "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." [Orphanet:199329]
subset: ordo_disease {source="Orphanet:199329"}
xref: ICD10:G71.2 {source="ORDO:199329/attributed", source="ORDO:199329/ntbt", source="Orphanet:199329"}
xref: Orphanet:199329 {source="MONDO:equivalentTo"}
is_a: MONDO:0016145 {source="Orphanet:199329"} ! qualitative or quantitative defects of dysferlin
is_a: MONDO:0019950 {source="Orphanet:199329"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:199329

[Term]
id: MONDO:0016050
name: thiamine-responsive encephalopathy
def: "Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine." [Orphanet:199348]
subset: ordo_disease {source="Orphanet:199348"}
xref: Orphanet:199348 {source="MONDO:equivalentTo"}
xref: SCTID:723557004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005527 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! toxic encephalopathy
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:199348"} ! monogenic epilepsy
property_value: exactMatch http://identifiers.org/snomedct/723557004
property_value: exactMatch Orphanet:199348

[Term]
id: MONDO:0016051
name: cleft lip-retinopathy syndrome
def: "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." [Orphanet:1995]
subset: ordo_malformation_syndrome {source="Orphanet:1995"}
synonym: "Ausems Wittebol-Post Hennekam syndrome" RELATED [GARD:0000435]
synonym: "Ausems-Wittebol Post-Hennekam syndrome" EXACT [Orphanet:1995]
synonym: "cleft lip with progressive retinopathy" RELATED [GARD:0000435]
synonym: "cleft lip-cone rod dystrophy syndrome" EXACT [Orphanet:1995]
synonym: "cleft lip-progressive retinopathy syndrome" EXACT [Orphanet:1995]
xref: GARD:0000435 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:1995/attributed", source="ORDO:1995/ntbt", source="Orphanet:1995"}
xref: MESH:C538272 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:1995 {source="MONDO:equivalentTo"}
xref: UMLS:C2931789 {source="ORDO:1995/e", source="MONDO:equivalentTo", source="Orphanet:1995"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015335 {source="Orphanet:1995"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020240 {source="Orphanet:1995"} ! syndromic retinitis pigmentosa
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1995"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931789
property_value: exactMatch Orphanet:1995

[Term]
id: MONDO:0016052
name: atypical autism
def: "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" [Orphanet:199627]
subset: ordo_disease {source="Orphanet:199627"}
xref: ICD10:F84.1 {source="MONDO:equivalentTo", source="ORDO:199627/e", source="ORDO:199627/specific", source="Orphanet:199627"}
xref: ICD9:299.80 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10003747 {source="ORDO:199627/e", source="Orphanet:199627"}
xref: Orphanet:199627 {source="MONDO:equivalentTo"}
xref: SCTID:231536004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000594 {source="Orphanet:199627"} ! pervasive developmental disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015680"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10003747
property_value: exactMatch http://identifiers.org/snomedct/231536004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338986
property_value: exactMatch Orphanet:199627

[Term]
id: MONDO:0016053
name: isolated cerebellar vermis hypoplasia
def: "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." [Orphanet:199630]
subset: ordo_morphological_anomaly {source="Orphanet:199630"}
xref: ICD10:Q04.3 {source="Orphanet:199630", source="ORDO:199630/ntbt"}
xref: Orphanet:199630 {source="MONDO:equivalentTo"}
xref: SCTID:766709000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020130 {source="Orphanet:199630"} ! malformation of the cerebellar vermis
property_value: exactMatch http://identifiers.org/snomedct/766709000
property_value: exactMatch Orphanet:199630

[Term]
id: MONDO:0016054
name: cerebral malformation
subset: ordo_group_of_disorders {source="Orphanet:199633"}
synonym: "brain malformation" EXACT [Orphanet:199633]
xref: Orphanet:199633 {source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="MONDO:cjm", source="Orphanet:199633/inferred"} ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:199633", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! non-syndromic central nervous system malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266449
property_value: exactMatch Orphanet:199633

[Term]
id: MONDO:0016055
name: syndrome with corpus callosum agenesis /dysgenesis as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:199639"}
xref: Orphanet:199639 {source="MONDO:equivalentTo"}
xref: UMLS:CN200739 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015220 {source="Orphanet:199639"} ! syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200739
property_value: exactMatch Orphanet:199639
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0016056
name: isolated congenital microcephaly
subset: ordo_malformation_syndrome {source="Orphanet:199642"}
xref: GARD:0007038 {source="MONDO:equivalentTo"}
xref: ICD10:Q02 {source="Orphanet:199642", source="ORDO:199642/attributed", source="ORDO:199642/ntbt"}
xref: MedDRA:10027534 {source="Orphanet:199642", source="ORDO:199642/e"}
xref: Orphanet:199642 {source="MONDO:equivalentTo"}
is_a: MONDO:0001149 {source="MONDO:cjm"} ! microcephaly (disease)
is_a: MONDO:0016054 {source="Orphanet:199642"} ! cerebral malformation
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:199642", source="Orphanet:199642/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/meddra/10027534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025958
property_value: exactMatch Orphanet:199642

[Term]
id: MONDO:0016057
name: isolated encephalocele
def: "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." [MESH:D004677]
subset: ordo_morphological_anomaly {source="Orphanet:199647"}
synonym: "bifid cranium" RELATED [GARD:0006333]
synonym: "craniocele" RELATED [GARD:0006333]
synonym: "cranium bifidum" RELATED [GARD:0006333]
synonym: "encephalocele" RELATED [GARD:0006333]
xref: GARD:0006333 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q01.0 {source="ORDO:199647/btnt", source="MONDO:superClassOf", source="Orphanet:199647", source="ORDO:199647/specific"}
xref: ICD10:Q01.1 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"}
xref: ICD10:Q01.2 {source="ORDO:199647/btnt", source="MONDO:superClassOf", source="Orphanet:199647", source="ORDO:199647/specific"}
xref: ICD10:Q01.8 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"}
xref: ICD10:Q01.9 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"}
xref: MedDRA:10014617 {source="ORDO:199647/e", source="Orphanet:199647"}
xref: Orphanet:199647 {source="MONDO:equivalentTo"}
is_a: MONDO:0017078 {source="Orphanet:199647"} ! cephalocele (disease)
property_value: exactMatch http://identifiers.org/meddra/10014617
property_value: exactMatch http://identifiers.org/mesh/D004677
property_value: exactMatch Orphanet:199647

[Term]
id: MONDO:0016058
name: paroxysmal dystonia
subset: ordo_group_of_disorders {source="Orphanet:200037"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:200037 {source="MONDO:equivalentTo"}
xref: SCTID:230310003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017657 {source="Orphanet:200037"} ! rare paroxysmal movement disorder
is_a: MONDO:0020065 {source="Orphanet:200037"} ! combined dystonia
property_value: exactMatch http://identifiers.org/snomedct/230310003
property_value: exactMatch Orphanet:200037

[Term]
id: MONDO:0016059
name: cleft lip/palate-deafness-sacral lipoma syndrome
def: "Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." [Orphanet:2003]
subset: ordo_malformation_syndrome {source="Orphanet:2003"}
synonym: "Lowry-Yong syndrome" EXACT [Orphanet:2003]
xref: ICD10:Q87.8 {source="Orphanet:2003", source="ORDO:2003/attributed", source="ORDO:2003/ntbt"}
xref: Orphanet:2003 {source="MONDO:equivalentTo"}
xref: SCTID:716007007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:CN200748 {source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:2003"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:2003"} ! syndromic genetic deafness
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/716007007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200748
property_value: exactMatch Orphanet:2003

[Term]
id: MONDO:0016060
name: laryngotracheoesophageal cleft
def: "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." [Orphanet:2004]
subset: ordo_morphological_anomaly {source="Orphanet:2004"}
synonym: "congenital cleft larynx" EXACT [NCIT:C98622]
synonym: "Larnygeotracheoesophageal cleft" EXACT [NCIT:C98622]
synonym: "laryngeal cleft" EXACT [NCIT:C98622]
synonym: "laryngo-tracheo-esophageal cleft" EXACT [Orphanet:2004]
synonym: "laryngo-tracheo-esophageal diastema" EXACT [Orphanet:2004]
synonym: "LC" EXACT [Orphanet:2004]
synonym: "LTEC" EXACT [Orphanet:2004]
synonym: "tracheal cleft" EXACT [NCIT:C98622]
xref: GARD:0003188 {source="MONDO:equivalentTo"}
xref: ICD10:Q32.1 {source="Orphanet:2004", source="ORDO:2004/ntbt"}
xref: MESH:C537875 {source="MONDO:equivalentTo"}
xref: NCIT:C98622 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.95"}
xref: Orphanet:2004 {source="MONDO:equivalentTo"}
xref: SCTID:232461002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015207 {source="Orphanet:2004"} ! non-syndromic esophageal malformation
is_a: MONDO:0015221 {source="Orphanet:2004"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015504 {source="Orphanet:2004"} ! larynx anomaly
is_a: MONDO:0015930 {source="Orphanet:2004"} ! respiratory malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840311
property_value: exactMatch http://identifiers.org/mesh/C537875
property_value: exactMatch http://identifiers.org/snomedct/232461002
property_value: exactMatch NCIT:C98622
property_value: exactMatch Orphanet:2004

[Term]
id: MONDO:0016061
name: immunodeficiency with factor H anomaly
subset: ordo_disease {source="Orphanet:200421"}
xref: ICD10:D84.1 {source="Orphanet:200421", source="ORDO:200421/attributed", source="ORDO:200421/ntbt"}
xref: Orphanet:200421 {source="MONDO:equivalentTo"}
is_a: MONDO:0012350 ! complement factor H deficiency
is_a: MONDO:0018727 {source="Orphanet:200421"} ! immunodeficiency due to a complement regulatory deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398777
property_value: exactMatch Orphanet:200421

[Term]
id: MONDO:0016062
name: median cleft lip/mandibule
def: "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." [Orphanet:2006]
subset: ordo_morphological_anomaly {source="Orphanet:2006"}
synonym: "median cleft lower facial stage" EXACT [Orphanet:2006]
xref: ICD10:Q36.1 {source="ORDO:2006/ntbt", source="Orphanet:2006"}
xref: Orphanet:2006 {source="MONDO:equivalentTo"}
xref: SCTID:723383005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015412 {source="Orphanet:2006"} ! median facial cleft
property_value: exactMatch http://identifiers.org/snomedct/723383005
property_value: exactMatch Orphanet:2006

[Term]
id: MONDO:0016063
name: Cowden disease
subset: ordo_disease {source="Orphanet:201"}
synonym: "CD" RELATED [GARD:0006202]
synonym: "Cowden disease" EXACT [NCIT:C3076, Orphanet:201]
synonym: "Cowden syndrome" EXACT [NCIT:C3076]
synonym: "Cowden's disease" EXACT [NCIT:C3076]
synonym: "dysplastic gangliocytoma of cerebellum" EXACT [DOID:6457, NCIT:C8419]
synonym: "Lhermitte-Duclos disease" EXACT EXCLUDE [DOID:6457]
synonym: "MHAM" RELATED [GARD:0006202]
synonym: "multiple hamartoma syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:201]
synonym: "PTEN hamartoma syndrome" EXACT EXCLUDE [NCIT:C3076]
xref: DOID:6457 {source="MONDO:equivalentTo"}
xref: GARD:0006202 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q85.8 {source="ORDO:201/attributed", source="ORDO:201/ntbt", source="Orphanet:201"}
xref: MedDRA:10051906 {source="ORDO:201/e", source="Orphanet:201"}
xref: MESH:D006223 {source="DOID:6457", source="MONDO:equivalentTo", source="ORDO:201/e", source="Orphanet:201"}
xref: NCIT:C3076 {source="DOID:6457", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.17"}
xref: OMIMPS:158350 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:201 {source="DOID:6457", source="MONDO:equivalentTo"}
xref: SCTID:58037000 {source="DOID:6457", source="MONDO:equivalentTo"}
xref: UMLS:C0018553 {source="DOID:6457", source="NCIT:C3076", source="MONDO:equivalentTo", source="ORDO:201/e", source="Orphanet:201"}
is_a: MONDO:0000426 {source="DOID:6457", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015185 {source="Orphanet:201"} ! intestinal polyposis syndrome
is_a: MONDO:0017623 {source="Orphanet:201"} ! PTEN hamartoma tumor syndrome
relationship: disease_has_feature MONDO:0017128 {source="Orphanet:201"} ! inherited digestive tract tumor
property_value: closeMatch http://identifiers.org/snomedct/67944007
property_value: exactMatch DOID:6457
property_value: exactMatch http://identifiers.org/meddra/10051906
property_value: exactMatch http://identifiers.org/mesh/D006223
property_value: exactMatch http://identifiers.org/snomedct/58037000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018553
property_value: exactMatch NCIT:C3076
property_value: exactMatch Orphanet:201

[Term]
id: MONDO:0016064
name: cleft palate
def: "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." [Orphanet:2014]
subset: ordo_group_of_disorders {source="Orphanet:2014"}
synonym: "cleft velum" EXACT [DOID:674]
synonym: "palatoschisis" EXACT [DOID:674]
synonym: "uranostaphyloschisis" EXACT [DOID:674]
xref: COHD:135923 {source="MONDO:equivalentTo"}
xref: DOID:674 {source="MONDO:equivalentTo"}
xref: ICD10:Q35 {source="DOID:674"}
xref: ICD10:Q35.1 {source="Orphanet:2014", source="MONDO:superClassOf", source="ORDO:2014/btnt"}
xref: ICD10:Q35.3 {source="Orphanet:2014", source="MONDO:superClassOf", source="ORDO:2014/btnt"}
xref: ICD10:Q35.5 {source="Orphanet:2014", source="ORDO:2014/btnt"}
xref: ICD10:Q35.7 {source="Orphanet:2014", source="ORDO:2014/btnt"}
xref: ICD10:Q35.9 {source="Orphanet:2014", source="ORDO:2014/btnt", source="DOID:674"}
xref: ICD9:749.0 {source="DOID:674"}
xref: ICD9:749.00 {source="DOID:674"}
xref: MedDRA:10009269 {source="Orphanet:2014", source="ORDO:2014/e"}
xref: MESH:D002972 {source="Orphanet:2014", source="ORDO:2014/e", source="MONDO:equivalentTo", source="DOID:674"}
xref: NCIT:C87069 {source="MONDO:kboom-pr-0.93/0.70/1.57", source="MONDO:equivalentTo", source="DOID:674"}
xref: Orphanet:2014 {source="MONDO:equivalentTo"}
xref: SCTID:63567004 {source="MONDO:kboom-pr-0.90/0.77/0.32", source="MONDO:equivalentTo"}
xref: UMLS:C0008925 {source="Orphanet:2014", source="ORDO:2014/e", source="MONDO:equivalentTo", source="NCIT:C87069", source="DOID:674"}
is_a: MONDO:0000358 {source="DOID:674", source="linkedlifedata", source="linkedlifedata/inferred"} ! orofacial cleft
is_a: MONDO:0015475 {source="Orphanet:2014"} ! rare head and neck malformation
is_a: MONDO:0019038 {source="Orphanet:2014"} ! rare maxillo-facial surgical disease
property_value: closeMatch http://identifiers.org/snomedct/156940009
property_value: closeMatch http://identifiers.org/snomedct/204593009
property_value: closeMatch http://identifiers.org/snomedct/204605001
property_value: closeMatch http://identifiers.org/snomedct/253986002
property_value: closeMatch http://identifiers.org/snomedct/268196005
property_value: closeMatch http://identifiers.org/snomedct/87979003
property_value: exactMatch DOID:674
property_value: exactMatch http://identifiers.org/meddra/10009269
property_value: exactMatch http://identifiers.org/mesh/D002972
property_value: exactMatch http://identifiers.org/snomedct/63567004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008925
property_value: exactMatch NCIT:C87069
property_value: exactMatch Orphanet:2014

[Term]
id: MONDO:0016065
name: cleft palate-short stature-vertebral anomalies syndrome
def: "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." [Orphanet:2015]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2015"}
synonym: "cleft palate short stature vertebral anomalies" RELATED [GARD:0001392]
synonym: "Mathieu-De Broca-Bony syndrome" EXACT [GARD:0001392, Orphanet:2015]
xref: GARD:0001392 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2015", source="ORDO:2015/attributed", source="ORDO:2015/ntbt"}
xref: Orphanet:2015 {source="MONDO:equivalentTo", source="GARD:0001392"}
xref: SCTID:719466009 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:CN200784 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2015", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2015"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2015"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/snomedct/719466009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200784
property_value: exactMatch Orphanet:2015
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies xsd:anyURI {source="GARD:0001392"}

[Term]
id: MONDO:0016066
name: sternal cleft
def: "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." [Orphanet:2017]
subset: gard_rare {source="GARD:0005012"}
subset: ordo_group_of_disorders {source="Orphanet:2017"}
synonym: "cleft sternum" EXACT [Orphanet:2017]
synonym: "congenital sternal cleft" RELATED [GARD:0005012]
synonym: "sternum bifidum" EXACT [Orphanet:2017]
xref: GARD:0005012 {source="MONDO:equivalentTo"}
xref: ICD10:Q76.7 {source="ORDO:2017/ntbt", source="Orphanet:2017"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537489 {source="ORDO:2017/e", source="MONDO:equivalentTo", source="Orphanet:2017", source="MONDO:ontobio"}
xref: Orphanet:2017 {source="MONDO:equivalentTo"}
xref: SCTID:54008006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.92"}
xref: UMLS:C2931507 {source="ORDO:2017/e", source="MONDO:equivalentTo", source="Orphanet:2017"}
is_a: MONDO:0015879 {source="Orphanet:2017"} ! non-syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0015929 {source="Orphanet:2017"} ! thoracic malformation
property_value: exactMatch http://identifiers.org/mesh/C537489
property_value: exactMatch http://identifiers.org/snomedct/54008006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931507
property_value: exactMatch Orphanet:2017
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft xsd:anyURI {source="GARD:0005012"}

[Term]
id: MONDO:0016067
name: Crandall syndrome
def: "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." [https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome]
subset: gard_rare {source="GARD:0001561"}
subset: ordo_disease {source="Orphanet:202"}
synonym: "alopecia deafness hypogonadism" RELATED [GARD:0001561]
synonym: "alopecia-deafness-hypogonadism syndrome" EXACT [Orphanet:202]
synonym: "alopecia-sensorineural deafness-hypogonadism syndrome" EXACT [Orphanet:202]
xref: GARD:0001561 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:202 {source="MONDO:equivalentTo"}
xref: SCTID:278098005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.02"}
xref: UMLS:C0432348 {source="Orphanet:202", source="MONDO:equivalentTo", source="ORDO:202/e"}
is_a: MONDO:0019282 {source="Orphanet:202"} ! syndromic hair shaft abnormality
property_value: exactMatch http://identifiers.org/snomedct/278098005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432348
property_value: exactMatch Orphanet:202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome xsd:anyURI {source="GARD:0001561"}

[Term]
id: MONDO:0016068
name: fibrochondrogenesis
def: "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." [https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis]
subset: gard_rare {source="GARD:0002321"}
subset: ordo_disease {source="Orphanet:2021"}
xref: DOID:0060465 {source="MONDO:equivalentTo"}
xref: GARD:0002321 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:2021/attributed", source="ORDO:2021/ntbt", source="Orphanet:2021"}
xref: MESH:C562524 {source="DOID:0060465", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:228520 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2021 {source="DOID:0060465", source="MONDO:equivalentTo"}
xref: SCTID:17144009 {source="DOID:0060465", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005516 {source="DOID:0060465", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0019687 {source="Orphanet:2021"} ! type 11 collagen-related bone disorder
is_a: MONDO:0019697 {source="Orphanet:2021"} ! mesomelic and rhizo-mesomelic dysplasia
property_value: exactMatch DOID:0060465
property_value: exactMatch http://identifiers.org/mesh/C562524
property_value: exactMatch http://identifiers.org/snomedct/17144009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265282
property_value: exactMatch Orphanet:2021
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis xsd:anyURI {source="GARD:0002321"}

[Term]
id: MONDO:0016070
name: hereditary gingival fibromatosis
def: "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." [Orphanet:2024]
subset: ordo_malformation_syndrome {source="Orphanet:2024"}
synonym: "autosomal dominant gingival fibromatosis" EXACT [Orphanet:2024]
synonym: "autosomal dominant gingival hyperplasia" EXACT [Orphanet:2024]
synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466]
synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024]
xref: DOID:0060466 {source="MONDO:equivalentTo"}
xref: ICD10:K06.1 {source="Orphanet:2024", source="ORDO:2024/attributed", source="ORDO:2024/ntbt"}
xref: OMIMPS:135300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2024 {source="DOID:0060466", source="MONDO:equivalentTo"}
xref: SCTID:109620006 {source="DOID:0060466", source="MONDO:equivalentTo"}
xref: UMLS:C0399440 {source="ORDO:2024/e", source="Orphanet:2024", source="DOID:0060466", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002507 {source="DOID:0060466"} ! gingival overgrowth
is_a: MONDO:0015603 {source="Orphanet:2024"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:2024"} ! rare genetic odontal or periodontal disorder
is_a: MONDO:0021147 {source="Orphanet:2024", source="Orphanet:2024/inferred"} ! disorder of development or morphogenesis
property_value: closeMatch http://identifiers.org/mesh/C562884
property_value: exactMatch DOID:0060466
property_value: exactMatch http://identifiers.org/snomedct/109620006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399440
property_value: exactMatch Orphanet:2024

[Term]
id: MONDO:0016071
name: juvenile hyaline fibromatosis
def: "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term)." [Orphanet:2028]
subset: ordo_disease {source="Orphanet:2028"}
synonym: "mesenchymal dysplasia" EXACT [NCIT:C98297]
synonym: "Molluscum fibrosum" EXACT [NCIT:C98297]
synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028]
synonym: "Puretic syndrome" EXACT [Orphanet:2028]
xref: ICD10:M72.8 {source="ORDO:2028/attributed", source="ORDO:2028/ntbt", source="Orphanet:2028"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98297 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:2028 {source="MONDO:equivalentTo"}
xref: SCTID:238861002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.27"}
is_a: MONDO:0002300 ! dermis tumor
is_a: MONDO:0006424 {source="Orphanet:2028"} ! soft tissue neoplasm
is_a: MONDO:0009229 {source="Orphanet:2028"} ! hyaline fibromatosis syndrome
is_a: MONDO:0015336 {source="Orphanet:2028"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0017127 {source="MONDO:Entailed"} ! inherited soft tissue tumor
is_a: MONDO:0018798 {source="Orphanet:2028"} ! other genetic dermis disorder
is_a: MONDO:0019060 ! bone neoplasm
property_value: exactMatch http://identifiers.org/mesh/D057770
property_value: exactMatch http://identifiers.org/snomedct/238861002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406578
property_value: exactMatch NCIT:C98297
property_value: exactMatch Orphanet:2028

[Term]
id: MONDO:0016072
name: anomaly of puberty or/and menstrual cycle of genetic origin
def: "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:202940"}
synonym: "genetic anomaly of puberty or/and menstrual cycle" EXACT [MONDO:patterns/genetic]
xref: Orphanet:202940 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015860 ! anomaly of puberty or/and menstrual cycle
intersection_of: MONDO:0015860 ! anomaly of puberty or/and menstrual cycle
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:202940

[Term]
id: MONDO:0016073
name: syndromic microphthalmia
def: "A microphthalmia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:202948"}
synonym: "microphthalmia, syndromic" EXACT [OMIMPS:309800]
synonym: "syndrome associated with microphthalmia" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with microphthalmia" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic microphthalmia" EXACT [MONDO:0000064, MONDO:patterns/syndromic]
xref: DC:0000280 {source="MONDO:equivalentTo"}
xref: OMIMPS:309800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:202948 {source="MONDO:equivalentTo"}
xref: UMLS:CN226833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0020147 {source="Orphanet:202948"} ! anophthalmia-microphthalmia syndrome
is_a: MONDO:0021129 {source="MONDO:Redundant", source="MONDO:cjm"} ! microphthalmia
intersection_of: MONDO:0021129 ! microphthalmia
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226833
property_value: exactMatch Orphanet:202948

[Term]
id: MONDO:0016074
name: obsolete fibrosarcoma
is_obsolete: true
replaced_by: MONDO:0005164

[Term]
id: MONDO:0016075
name: filariasis
def: ", respectively. Tropical eosinophilia is considered a frequent manifestation." [Orphanet:2034]
subset: ordo_group_of_disorders {source="Orphanet:2034"}
synonym: "disease due to superfamily Filarioidea" EXACT [DOID:1080]
xref: DOID:1080 {source="MONDO:equivalentTo"}
xref: ICD10:B74 {source="MONDO:equivalentTo", source="DOID:1080"}
xref: ICD10:B74.0 {source="Orphanet:2034", source="ORDO:2034/e"}
xref: ICD10:B74.1 {source="Orphanet:2034", source="ORDO:2034/e"}
xref: ICD10:B74.2 {source="Orphanet:2034", source="ORDO:2034/e"}
xref: ICD10:B74.3 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:superClassOf"}
xref: ICD10:B74.4 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:superClassOf"}
xref: ICD10:B74.8 {source="Orphanet:2034", source="ORDO:2034/e"}
xref: ICD10:B74.9 {source="Orphanet:2034", source="ORDO:2034/e", source="DOID:1080"}
xref: ICD9:125.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1080"}
xref: MedDRA:10016674 {source="Orphanet:2034", source="ORDO:2034/e"}
xref: MESH:D005368 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:equivalentTo", source="DOID:1080", source="MONDO:ontobio"}
xref: NCIT:C34611 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1080"}
xref: Orphanet:2034 {source="MONDO:equivalentTo"}
xref: SCTID:105706003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.54", source="DOID:1080"}
xref: UMLS:C0016085 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:equivalentTo", source="NCIT:C34611", source="DOID:1080"}
is_a: MONDO:0004664 {source="DOID:1080", source="ICD10:B74", source="MESH:D005368/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187161002
property_value: closeMatch http://identifiers.org/snomedct/187532008
property_value: closeMatch http://identifiers.org/snomedct/50342004
property_value: exactMatch DOID:1080
property_value: exactMatch http://identifiers.org/meddra/10016674
property_value: exactMatch http://identifiers.org/mesh/D005368
property_value: exactMatch http://identifiers.org/snomedct/105706003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016085
property_value: exactMatch NCIT:C34611
property_value: exactMatch Orphanet:2034

[Term]
id: MONDO:0016076
name: obsolete lymphatic filariasis
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/842 xsd:string
is_obsolete: true
replaced_by: MONDO:0005761

[Term]
id: MONDO:0016077
name: congenital aortopulmonary window
subset: ordo_morphological_anomaly {source="Orphanet:2037"}
synonym: "aorta-pulmonary artery fistula" RELATED [GARD:0000738]
synonym: "aorto-pulmonary artery fistula" RELATED [GARD:0000738]
synonym: "aortopulmonary fistula" RELATED [GARD:0000738]
synonym: "congenital aortopulmonary artery fistula" EXACT [Orphanet:2037]
synonym: "congenital aortopulmonary septal defect" EXACT [Orphanet:2037]
xref: GARD:0000738 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q21.4 {source="ORDO:2037/e", source="Orphanet:2037"}
xref: MESH:C537782 {source="ORDO:2037/e", source="Orphanet:2037", source="MONDO:equivalentTo"}
xref: Orphanet:2037 {source="MONDO:equivalentTo"}
xref: UMLS:C2931610 {source="MEDGEN:kboom-pr98-c99", source="ORDO:2037/e", source="Orphanet:2037", source="MONDO:equivalentTo"}
is_a: MONDO:0016581 {source="Orphanet:2037"} ! conotruncal heart malformations
property_value: exactMatch http://identifiers.org/mesh/C537782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931610
property_value: exactMatch Orphanet:2037

[Term]
id: MONDO:0016078
name: congenital systemic arteriovenous fistula
subset: ordo_morphological_anomaly {source="Orphanet:2039"}
xref: ICD10:Q27.3 {source="ORDO:2039/ntbt", source="Orphanet:2039"}
xref: Orphanet:2039 {source="MONDO:equivalentTo"}
is_a: MONDO:0020296 {source="Orphanet:2039"} ! congenital arteriovenous fistula
property_value: exactMatch Orphanet:2039

[Term]
id: MONDO:0016079
name: sporadic Creutzfeldt-Jakob disease
def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD)." [Orphanet:204]
subset: ordo_disease {source="Orphanet:204"}
synonym: "sporadic CJD" EXACT [Orphanet:204]
xref: ICD10:A81.0 {source="Orphanet:204", source="ORDO:204/ntbt"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10011384 {source="Orphanet:204", source="ORDO:204/e"}
xref: Orphanet:204 {source="MONDO:equivalentTo"}
xref: SCTID:713060000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
is_a: MONDO:0007403 {source="MONDOLEX:0016079"} ! inherited Creutzfeldt-Jakob disease
property_value: exactMatch http://identifiers.org/meddra/10011384
property_value: exactMatch http://identifiers.org/snomedct/713060000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022336
property_value: exactMatch Orphanet:204

[Term]
id: MONDO:0016080
name: congenital bronchobiliary fistula
def: "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." [Orphanet:2040]
subset: gard_rare {source="GARD:0001475"}
subset: ordo_morphological_anomaly {source="Orphanet:2040"}
xref: GARD:0001475 {source="MONDO:equivalentTo"}
xref: ICD10:Q32.4 {source="ORDO:2040/ntbt", source="Orphanet:2040"}
xref: Orphanet:2040 {source="MONDO:equivalentTo"}
xref: SCTID:719452004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015213 {source="Orphanet:2040"} ! non-syndromic visceral malformation
is_a: MONDO:0015221 {source="Orphanet:2040"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2040"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/snomedct/719452004
property_value: exactMatch Orphanet:2040
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula xsd:anyURI {source="GARD:0001475"}

[Term]
id: MONDO:0016081
name: coronary arterial fistulas
def: "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." [Orphanet:2041]
subset: ordo_morphological_anomaly {source="Orphanet:2041"}
synonym: "Coronaro-cardiac fistula" EXACT [Orphanet:2041]
synonym: "coronary arterial malformations" EXACT [Orphanet:2041]
xref: GARD:0001533 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.5 {source="Orphanet:2041", source="ORDO:2041/ntbt"}
xref: MedDRA:10069441 {source="Orphanet:2041", source="ORDO:2041/e"}
xref: Orphanet:2041 {source="MONDO:equivalentTo"}
is_a: MONDO:0015203 {source="Orphanet:2041"} ! coronary artery congenital malformation
property_value: exactMatch http://identifiers.org/meddra/10069441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265898
property_value: exactMatch Orphanet:2041

[Term]
id: MONDO:0016082
name: tracheo-esophageal fistula-hypospadias syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2042"}
xref: ICD10:Q87.8 {source="ORDO:2042/attributed", source="ORDO:2042/ntbt", source="Orphanet:2042"}
xref: Orphanet:2042 {source="MONDO:equivalentTo"}
xref: UMLS:CN226834 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:2042"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015504 {source="Orphanet:2042"} ! larynx anomaly
is_a: MONDO:0015505 {source="Orphanet:2042"} ! tracheal anomaly
is_a: MONDO:0015620 {source="Orphanet:2042"} ! syndromic urogenital tract malformation
is_a: MONDO:0015930 {source="Orphanet:2042"} ! respiratory malformation
is_a: MONDO:0018562 {source="Orphanet:2042"} ! genetic otorhinolaryngological malformation
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2042"} ! non-syndromic respiratory or mediastinal malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226834
property_value: exactMatch Orphanet:2042

[Term]
id: MONDO:0016083
name: FLOTCH syndrome
def: "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." [Orphanet:2045]
subset: gard_rare {source="GARD:0002346"}
subset: ordo_disease {source="Orphanet:2045"}
synonym: "familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity" RELATED [GARD:0002346]
synonym: "leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome" EXACT [Orphanet:2045]
xref: GARD:0002346 {source="MONDO:equivalentTo"}
xref: ICD10:L60.8 {source="Orphanet:2045", source="ORDO:2045/attributed", source="ORDO:2045/ntbt"}
xref: MESH:C537065 {source="Orphanet:2045", source="ORDO:2045/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2045 {source="MONDO:equivalentTo"}
xref: UMLS:C2931411 {source="Orphanet:2045", source="ORDO:2045/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019285 {source="Orphanet:2045"} ! syndromic nail anomaly
property_value: exactMatch http://identifiers.org/mesh/C537065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931411
property_value: exactMatch Orphanet:2045
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome xsd:anyURI {source="GARD:0002346"}

[Term]
id: MONDO:0016084
name: obsolete Crigler-Najjar syndrome
is_obsolete: true
replaced_by: MONDO:0009044

[Term]
id: MONDO:0016085
name: Cole-Carpenter syndrome
def: "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." [Orphanet:2050]
subset: ordo_malformation_syndrome {source="Orphanet:2050"}
synonym: "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome" EXACT [Orphanet:2050]
synonym: "Cole Carpenter syndrome" RELATED [GARD:0001425]
xref: DOID:0060438 {source="MONDO:equivalentTo"}
xref: GARD:0001425 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q78.0 {source="MONDO:subClassOf", source="ORDO:2050/attributed", source="ORDO:2050/ntbt", source="Orphanet:2050"}
xref: MESH:C535963 {source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438", source="MONDO:ontobio", source="ORDO:2050/e"}
xref: NCIT:C130985 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:112240 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2050 {source="MONDO:equivalentTo", source="DOID:0060438"}
xref: UMLS:C1862178 {source="NCIT:C130985", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438", source="ORDO:2050/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0016085", source="NCIT:C130985"} ! syndromic disease
is_a: MONDO:0019019 {source="DOID:0060438", source="MESH:C535963"} ! osteogenesis imperfecta
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:2050"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060438
property_value: exactMatch http://identifiers.org/mesh/C535963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862178
property_value: exactMatch NCIT:C130985
property_value: exactMatch Orphanet:2050

[Term]
id: MONDO:0016086
name: osteochondritis of tarsal/metatarsal bone
def: "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" [Orphanet:2054]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2054"}
synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:2054]
synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM_2006:732.5]
synonym: "Kohler disease" EXACT [DOID:11760]
synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, GARD:0006842, MONDO:LexicalVariant]
synonym: "Kohler's disease of the tarsal navicular" RELATED [GARD:0006842]
synonym: "Kohler's Osteochondrosis of the tarsal navicular" RELATED [GARD:0006842]
synonym: "navicular Osteochondrosis" RELATED [GARD:0006842]
synonym: "osteochondritis of tarsal/metatarsal bone" EXACT [GARD:0006842]
synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:2054]
xref: COHD:435903 {source="MONDO:equivalentTo"}
xref: DOID:11760 {source="MONDO:equivalentTo"}
xref: GARD:0006842 {source="MONDO:equivalentTo"}
xref: ICD10:M93.2 {source="ORDO:2054/ntbt", source="Orphanet:2054"}
xref: ICD9:732.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:11760"}
xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"}
xref: SCTID:203392007 {source="MONDO:equivalentTo", source="DOID:11760", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158444 {source="MONDO:equivalentTo", source="DOID:11760"}
xref: UMLS:CN200840 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054"} ! osteochondrosis
property_value: closeMatch http://identifiers.org/snomedct/203393002
property_value: closeMatch http://identifiers.org/snomedct/203397001
property_value: closeMatch http://identifiers.org/snomedct/32491009
property_value: exactMatch DOID:11760
property_value: exactMatch http://identifiers.org/snomedct/203392007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158444
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200840
property_value: exactMatch Orphanet:2054
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6842/kohler-disease xsd:anyURI {source="GARD:0006842"}

[Term]
id: MONDO:0016087
name: progressive non-infectious anterior vertebral fusion
def: "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." [Orphanet:2062]
subset: ordo_malformation_syndrome {source="Orphanet:2062"}
synonym: "Copenhagen syndrome" EXACT [Orphanet:2062]
xref: ICD10:Q87.8 {source="ORDO:2062/attributed", source="ORDO:2062/ntbt", source="Orphanet:2062"}
xref: Orphanet:2062 {source="MONDO:equivalentTo"}
xref: SCTID:719268008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304839 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN200850 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019711 {source="Orphanet:2062"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043008 ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/719268008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200850
property_value: exactMatch Orphanet:2062

[Term]
id: MONDO:0016088
name: hypoxanthine-guanine phosphoribosyltransferase deficiency
def: "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." [Orphanet:206428]
subset: ordo_group_of_disorders {source="Orphanet:206428"}
synonym: "HPRT deficiency" EXACT [Orphanet:206428]
synonym: "HPRT1 deficiency" EXACT [Orphanet:206428]
synonym: "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" EXACT [Orphanet:206428]
xref: GARD:0002943 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E79.8 {source="Orphanet:206428", source="ORDO:206428/attributed", source="ORDO:206428/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:206428 {source="MONDO:equivalentTo"}
xref: SCTID:124275001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.64/0.27/0.06"}
is_a: MONDO:0015920 {source="Orphanet:206428"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019236 {source="Orphanet:206428"} ! inborn disorder of purine metabolism
is_a: MONDO:0019743 {source="Orphanet:206428"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020112 {source="Orphanet:206428"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia
property_value: exactMatch http://identifiers.org/snomedct/124275001
property_value: exactMatch Orphanet:206428

[Term]
id: MONDO:0016089
name: infantile Krabbe disease
subset: ordo_clinical_subtype {source="Orphanet:206436"}
synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436]
synonym: "Krabbe disease, early-onset" EXACT [Orphanet:206436]
xref: ICD10:E75.2 {source="Orphanet:206436", source="ORDO:206436/attributed", source="ORDO:206436/ntbt"}
xref: Orphanet:206436 {source="MONDO:equivalentTo"}
xref: SCTID:238030005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
is_a: MONDO:0009499 {source="MONDOLEX:0016089", source="Orphanet:206436"} ! Krabbe disease
property_value: exactMatch http://identifiers.org/snomedct/238030005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751273
property_value: exactMatch Orphanet:206436

[Term]
id: MONDO:0016090
name: late-infantile/juvenile Krabbe disease
subset: ordo_clinical_subtype {source="Orphanet:206443"}
synonym: "Krabbe disease, late-onset" EXACT [Orphanet:206443]
xref: ICD10:E75.2 {source="Orphanet:206443", source="ORDO:206443/attributed", source="ORDO:206443/ntbt"}
xref: Orphanet:206443 {source="MONDO:equivalentTo"}
xref: SCTID:41142009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:CN200855 {source="MONDO:equivalentTo"}
is_a: MONDO:0009499 {source="MONDOLEX:0016090", source="Orphanet:206443"} ! Krabbe disease
property_value: exactMatch http://identifiers.org/snomedct/41142009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200855
property_value: exactMatch Orphanet:206443

[Term]
id: MONDO:0016091
name: adult Krabbe disease
def: "A Krabbe disease that occurs in an adult." [MONDO:design_pattern]
subset: ordo_clinical_subtype {source="Orphanet:206448"}
synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: ICD10:E75.2 {source="Orphanet:206448", source="ORDO:206448/attributed", source="ORDO:206448/ntbt"}
xref: Orphanet:206448 {source="MONDO:equivalentTo"}
xref: UMLS:CN200856 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009499 {source="MONDO:Redundant", source="MONDOLEX:0016091", source="Orphanet:206448"} ! Krabbe disease
is_a: MONDO:0020143 {source="Orphanet:206448"} ! cerebral lipidosis with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200856
property_value: exactMatch Orphanet:206448

[Term]
id: MONDO:0016092
name: serous or mucinous cystadenoma of childhood
def: "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." [Orphanet:206470]
subset: ordo_disease {source="Orphanet:206470"}
synonym: "mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:206470]
synonym: "serous cystadenoma of ovary in childhood" EXACT [Orphanet:206470]
xref: ICD10:D27 {source="ORDO:206470/ntbt", source="Orphanet:206470"}
xref: Orphanet:206470 {source="MONDO:equivalentTo"}
is_a: MONDO:0000646 {source="Orphanet:206470"} ! ovarian benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: exactMatch Orphanet:206470

[Term]
id: MONDO:0016093
name: borderline epithelial tumor of ovary
def: "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." [NCIT:P378]
subset: ordo_disease {source="Orphanet:206473"}
synonym: "borderline epithelial neoplasm of ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial neoplasm of the ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial tumor of ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial tumor of the ovary" EXACT [NCIT:C4783]
synonym: "borderline ovarian epithelial neoplasm" EXACT [NCIT:C4783]
synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783, Orphanet:206473]
synonym: "borderline ovarian surface epithelial-stromal tumor" EXACT [NCIT:C4783]
synonym: "epithelial neoplasm of ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial neoplasm of the ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial ovarian neoplasm of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial ovarian tumor of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial tumor of ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial tumor of the ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "low malignant potential ovarian tumor" EXACT [NCIT:C4783]
synonym: "ovarian borderline malignant tumor" EXACT [NCIT:C4783]
synonym: "ovarian low malignant potential tumor" EXACT [NCIT:C4783]
synonym: "ovarian tum. of low malig. poten." EXACT [NCIT:C4783]
synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473]
synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783]
xref: EFO:1000140 {source="MONDO:equivalentTo"}
xref: GARD:0009363 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:206473/ntbt", source="Orphanet:206473"}
xref: NCIT:C4783 {source="MONDO:equivalentTo"}
xref: Orphanet:206473 {source="MONDO:equivalentTo"}
xref: SCTID:764791008 {source="MONDO:equivalentTo"}
xref: UMLS:C3665489 {source="MONDO:equivalentTo", source="Orphanet:206473", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002229 {source="NCIT:C4783"} ! ovarian epithelial tumor
relationship: excluded_subClassOf MONDO:0018364 {source="Orphanet:206473", source="https://github.com/monarch-initiative/mondo/issues/454"} ! malignant epithelial tumor of ovary
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496920
property_value: exactMatch http://identifiers.org/snomedct/764791008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665489
property_value: exactMatch NCIT:C4783
property_value: exactMatch Orphanet:206473

[Term]
id: MONDO:0016094
name: vaginal germ cell malignant tumor
def: "A malignant germ cell tumor that involves the vagina." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:206489"}
synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489]
synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "vaginal germ cell cancer" EXACT [Orphanet:206489]
xref: ICD10:C52 {source="ORDO:206489/ntbt", source="Orphanet:206489"}
xref: Orphanet:206489 {source="MONDO:equivalentTo"}
xref: UMLS:CN200860 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001402 ! vaginal cancer
is_a: MONDO:0006290 ! malignant germ cell tumor
is_a: MONDO:0015876 {source="Orphanet:206489"} ! rare vulvovaginal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200860
property_value: exactMatch Orphanet:206489

[Term]
id: MONDO:0016095
name: vaginal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." [NCIT:C128080]
subset: ordo_disease {source="Orphanet:206492"}
synonym: "rhabdomyosarcoma (disease) of vagina" EXACT []
synonym: "vagina rhabdomyosarcoma" EXACT []
synonym: "vagina rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "vaginal rhabdomyosarcoma" EXACT [NCIT:C128080]
synonym: "vulvovaginal rhabdomyosarcoma" RELATED [Orphanet:206492]
xref: ICD10:C52 {source="ORDO:206492/ntbt", source="Orphanet:206492"}
xref: NCIT:C128080 {source="MONDO:equivalentTo"}
xref: Orphanet:206492 {source="MONDO:equivalentTo"}
xref: SCTID:766759009 {source="MONDO:equivalentTo"}
xref: UMLS:C4288035 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002140 ! vagina sarcoma
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C128080"} ! rhabdomyosarcoma (disease)
is_a: MONDO:0015876 {source="Orphanet:206492"} ! rare vulvovaginal tumor
property_value: exactMatch http://identifiers.org/snomedct/766759009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288035
property_value: exactMatch NCIT:C128080
property_value: exactMatch Orphanet:206492

[Term]
id: MONDO:0016096
name: malignant non-dysgerminomatous germ cell tumor of ovary
def: "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." [NCIT:C102870]
subset: ordo_disease {source="Orphanet:206538"}
synonym: "non-dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:206538]
synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870]
synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870]
synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870]
synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870]
xref: ICD10:C56 {source="Orphanet:206538", source="ORDO:206538/ntbt"}
xref: NCIT:C102870 {source="MONDO:equivalentTo"}
xref: Orphanet:206538 {source="MONDO:equivalentTo"}
xref: UMLS:C3640983 {source="MONDO:equivalentTo", source="NCIT:C102870"}
xref: UMLS:CN200863 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003408 {source="NCIT:C102870"} ! ovarian primitive germ cell tumor
is_a: MONDO:0021656 {source="MONDO:Redundant", source="MONDOLEX:0016096", source="NCIT:C102870"} ! nongerminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3640983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200863
property_value: exactMatch NCIT:C102870
property_value: exactMatch Orphanet:206538

[Term]
id: MONDO:0016097
name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
def: "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." [Orphanet:206546]
subset: ordo_disease {source="Orphanet:206546"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:206546", source="ORDO:206546/attributed", source="ORDO:206546/ntbt"}
xref: Orphanet:206546 {source="MONDO:equivalentTo"}
xref: SCTID:765197008 {source="MONDO:equivalentTo"}
xref: UMLS:CN200864 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016147 {source="Orphanet:206546"} ! qualitative or quantitative defects of dystrophin
is_a: MONDO:0016899 {source="Orphanet:206546"} ! Duchenne and Becker muscular dystrophy
property_value: exactMatch http://identifiers.org/snomedct/765197008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200864
property_value: exactMatch Orphanet:206546

[Term]
id: MONDO:0016098
name: immune-mediated necrotizing myopathy
def: "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." [Orphanet:206569]
subset: ordo_disease {source="Orphanet:206569"}
synonym: "anti-HMG-CoA myopathy" EXACT [Orphanet:206569]
synonym: "anti-SRP myopathy" EXACT [Orphanet:206569]
synonym: "autoimmune necrotizing myositis" EXACT [Orphanet:206569]
synonym: "immune myopathy with myocyte necrosis" EXACT [Orphanet:206569]
synonym: "IMNM" EXACT [Orphanet:206569]
synonym: "NAM" EXACT [Orphanet:206569]
synonym: "necrotizing autoimmune myopathy" RELATED [GARD:0013307]
xref: GARD:0013307 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G72.4 {source="Orphanet:206569", source="ORDO:206569/ntbt"}
xref: Orphanet:206569 {source="MONDO:equivalentTo"}
xref: SCTID:715863001 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0020122 {source="Orphanet:206569", source="linkedlifedata"} ! idiopathic inflammatory myopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3267047
property_value: exactMatch http://identifiers.org/snomedct/715863001
property_value: exactMatch Orphanet:206569

[Term]
id: MONDO:0016099
name: overlap myositis
def: "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." [Orphanet:206572]
subset: ordo_disease {source="Orphanet:206572"}
synonym: "adult-onset overlap myositis" EXACT [Orphanet:206572]
synonym: "non-specific myositis" EXACT [Orphanet:206572]
xref: Orphanet:206572 {source="MONDO:equivalentTo"}
is_a: MONDO:0020122 {source="Orphanet:206572"} ! idiopathic inflammatory myopathy
property_value: exactMatch Orphanet:206572

[Term]
id: MONDO:0016100
name: rippling muscle disease with myasthenia gravis
subset: ordo_disease {source="Orphanet:206575"}
synonym: "acquired rippling muscle disease" BROAD [Orphanet:206575]
synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575]
synonym: "Rmd-MG" EXACT [PMID:14694511]
xref: ICD10:G70.8 {source="Orphanet:206575", source="ORDO:206575/ntbt"}
xref: Orphanet:206575 {source="MONDO:equivalentTo"}
xref: UMLS:CN200870 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018743 {source="Orphanet:206575"} ! immune-mediated acquired neuromuscular junction disease
is_a: MONDO:0021142 {source="MONDOLEX:0016100"} ! acquired rippling muscle disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200870
property_value: exactMatch Orphanet:206575

[Term]
id: MONDO:0016101
name: neurolymphomatosis
def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380]
subset: ordo_disease {source="Orphanet:206586"}
synonym: "fowl paralyses" RELATED [GARD:0006974]
synonym: "fowl paralysis" RELATED [GARD:0006974]
synonym: "Marek disease" RELATED [GARD:0006974]
synonym: "Marek's disease" RELATED [GARD:0006974]
xref: GARD:0006974 {source="MONDO:equivalentTo"}
xref: MESH:D008380 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:206586 {source="MONDO:equivalentTo"}
xref: SCTID:766752000 {source="MONDO:equivalentTo"}
xref: UMLS:C0024793 {source="MONDO:equivalentTo"}
is_a: MONDO:0016138 {source="Orphanet:206586"} ! malignant lymphoma with peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/D008380
property_value: exactMatch http://identifiers.org/snomedct/766752000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024793
property_value: exactMatch Orphanet:206586

[Term]
id: MONDO:0016102
name: subacute inflammatory demyelinating polyneuropathy
def: "Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-BarrC) syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms)." [Orphanet:206594]
subset: ordo_disease {source="Orphanet:206594"}
synonym: "SIDP" EXACT [MONDO:cjm]
synonym: "Subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:206594]
xref: ICD10:G61.8 {source="ORDO:206594/ntbt", source="Orphanet:206594"}
xref: Orphanet:206594 {source="MONDO:equivalentTo"}
xref: SCTID:277189006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0456517 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0016137 {source="Orphanet:206594"} ! acute and subacute inflammatory demyelinating polyneuropathy
property_value: exactMatch http://identifiers.org/snomedct/277189006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456517
property_value: exactMatch Orphanet:206594

[Term]
id: MONDO:0016103
name: isolated asymptomatic elevation of creatine phosphokinase
def: "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia]
subset: ordo_biological_anomaly {source="Orphanet:206599"}
synonym: "hyperCKmia" EXACT [NCIT:C148327]
synonym: "idiopathic asymptomatic hyperCKemia" EXACT [Orphanet:206599]
synonym: "isolated asymptomatic hyperCKemia" EXACT [Orphanet:206599]
synonym: "isolated hyperCKemia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1385/]
xref: NCIT:C148327 {source="MONDO:equivalentTo"}
xref: Orphanet:206599 {source="MONDO:equivalentTo"}
is_a: MONDO:0016146 {source="Orphanet:206599", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy
is_a: MONDO:0016147 {source="Orphanet:206599"} ! qualitative or quantitative defects of dystrophin
property_value: exactMatch NCIT:C148327
property_value: exactMatch Orphanet:206599

[Term]
id: MONDO:0016104
name: infectious disease with peripheral neuropathy
def: "An infectious process affecting the peripheral nerves." [NCIT:C27589]
subset: ordo_group_of_disorders {source="Orphanet:206613"}
synonym: "peripheral nerve infection" EXACT [NCIT:C27589]
synonym: "peripheral nervous system infectious disorder" EXACT [NCIT:C27589]
xref: NCIT:C27589 {source="MONDO:equivalentTo"}
xref: Orphanet:206613 {source="MONDO:equivalentTo"}
xref: UMLS:C1278821 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:206613", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:206613"} ! acquired peripheral neuropathy
is_a: MONDO:0020010 {source="NCIT:C27589"} ! infectious disease of the nervous system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1278821
property_value: exactMatch NCIT:C27589
property_value: exactMatch Orphanet:206613

[Term]
id: MONDO:0016105
name: acquired skeletal muscle disease
def: "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:206638"}
synonym: "acquired skeletal muscle disease" EXACT [MONDO:patterns/acquired]
xref: Orphanet:206638 {source="MONDO:equivalentTo"}
xref: UMLS:CN200878 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 ! acquired peripheral neuropathy
is_a: MONDO:0020120 {source="MONDO:Redundant", source="MONDOLEX:0016105", source="Orphanet:206638"} ! skeletal muscle disease
intersection_of: MONDO:0020120 ! skeletal muscle disease
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200878
property_value: exactMatch Orphanet:206638

[Term]
id: MONDO:0016106
name: progressive muscular dystrophy
subset: ordo_group_of_disorders {source="Orphanet:206644"}
xref: GARD:0012583 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:206644", source="ORDO:206644/attributed", source="ORDO:206644/ntbt"}
xref: Orphanet:206644 {source="MONDO:equivalentTo"}
xref: UMLS:CN241791 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020121 {source="Orphanet:206644"} ! muscular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN241791
property_value: exactMatch Orphanet:206644

[Term]
id: MONDO:0016107
name: myotonic dystrophy
def: "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." [NCIT:C84914]
subset: ordo_group_of_disorders {source="Orphanet:206647"}
synonym: "inherited myotonic dystrophy" EXACT [MONDO:cjm]
synonym: "myotonia atrophica" RELATED [GARD:0010419]
synonym: "myotonia dystrophica" RELATED [GARD:0010419]
synonym: "myotonic disease" RELATED [DOID:450]
xref: DC:0000127 {source="MONDO:equivalentTo"}
xref: DOID:450 {source="MONDO:equivalentTo"}
xref: GARD:0010419 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.1 {source="Orphanet:206647", source="ORDO:206647/attributed", source="ORDO:206647/ntbt", source="DOID:450"}
xref: ICD9:359.2 {source="DOID:450"}
xref: MedDRA:10068871 {source="Orphanet:206647", source="ORDO:206647/e"}
xref: MESH:D009223 {source="Orphanet:206647", source="ORDO:206647/e", source="MONDO:equivalentTo"}
xref: NCIT:C84914 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:160900 {source="MONDO:equivalentTo", source="DC:0000127"}
xref: Orphanet:206647 {source="MONDO:equivalentTo"}
xref: SCTID:240104008 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0027126 {source="Orphanet:206647", source="ORDO:206647/e", source="MONDO:equivalentTo", source="NCIT:C84914"}
is_a: MONDO:0016106 {source="Orphanet:206647"} ! progressive muscular dystrophy
is_a: MONDO:0016120 {source="Orphanet:206647"} ! myotonic syndrome
property_value: closeMatch http://identifiers.org/snomedct/155096007
property_value: closeMatch http://identifiers.org/snomedct/193237003
property_value: closeMatch http://identifiers.org/snomedct/193240003
property_value: closeMatch http://identifiers.org/snomedct/267713009
property_value: closeMatch NCIT:C84913
property_value: exactMatch DOID:450
property_value: exactMatch http://identifiers.org/meddra/10068871
property_value: exactMatch http://identifiers.org/mesh/D009223
property_value: exactMatch http://identifiers.org/snomedct/240104008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027126
property_value: exactMatch NCIT:C84914
property_value: exactMatch Orphanet:206647

[Term]
id: MONDO:0016108
name: autosomal dominant distal myopathy
def: "Autosomal dominant form of distal myopathy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:206650"}
synonym: "distal myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:206650/attributed", source="ORDO:206650/ntbt", source="Orphanet:206650"}
xref: Orphanet:206650 {source="MONDO:equivalentTo"}
xref: UMLS:CN229018 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018949 {source="MONDO:Redundant", source="MONDOLEX:0016108", source="Orphanet:206650"} ! distal myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229018
property_value: exactMatch Orphanet:206650

[Term]
id: MONDO:0016109
name: autosomal recessive distal myopathy
def: "Autosomal recessive form of distal myopathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:206653"}
synonym: "distal myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:206653/attributed", source="ORDO:206653/ntbt", source="Orphanet:206653"}
xref: Orphanet:206653 {source="MONDO:equivalentTo"}
xref: UMLS:CN229019 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018949 {source="MONDO:Redundant", source="MONDOLEX:0016109", source="Orphanet:206653"} ! distal myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229019
property_value: exactMatch Orphanet:206653

[Term]
id: MONDO:0016110
name: non-dystrophic myopathy
def: "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." [NCIT:C122787]
subset: ordo_group_of_disorders {source="Orphanet:206656"}
synonym: "non dystrophic myotonia" EXACT [NCIT:C122787]
synonym: "non-dystrophic myotonia" EXACT [NCIT:C122787]
xref: NCIT:C122787 {source="MONDO:equivalentTo"}
xref: Orphanet:206656 {source="MONDO:equivalentTo"}
xref: SCTID:424795008 {source="MONDO:equivalentTo"}
xref: UMLS:C1828221 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="MONDO:cjm"} ! myopathy
is_a: MONDO:0020120 {source="Orphanet:206656", source="Orphanet:206656/inferred"} ! skeletal muscle disease
property_value: exactMatch http://identifiers.org/snomedct/424795008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1828221
property_value: exactMatch NCIT:C122787
property_value: exactMatch Orphanet:206656

[Term]
id: MONDO:0016111
name: non-dystrophic myopathy with collagen 6 anomaly
subset: ordo_group_of_disorders {source="Orphanet:206659"}
xref: Orphanet:206659 {source="MONDO:equivalentTo"}
is_a: MONDO:0016110 {source="MONDOLEX:0016111", source="Orphanet:206659"} ! non-dystrophic myopathy
is_a: MONDO:0016148 {source="Orphanet:206659"} ! qualitative or quantitative defects of collagen 6
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:206659

[Term]
id: MONDO:0016112
name: inclusion myopathy
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:206662"}
synonym: "cytoplasmic body myopathy" RELATED [GARD:0001658]
xref: GARD:0001658 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="ORDO:206662/attributed", source="ORDO:206662/ntbt", source="Orphanet:206662"}
xref: Orphanet:206662 {source="MONDO:equivalentTo"}
is_a: MONDO:0016110 {source="Orphanet:206662"} ! non-dystrophic myopathy
property_value: exactMatch Orphanet:206662
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy xsd:anyURI {source="GARD:0001658"}

[Term]
id: MONDO:0016113
name: bulbospinal muscular atrophy
subset: ordo_group_of_disorders {source="Orphanet:206701"}
synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
synonym: "SBMA" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
synonym: "spinal and bulbal muscular atrophy" EXACT [https://en.wikipedia.org/wiki/Spinal_and_bulbar_muscular_atrophy]
synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:206701", source="ORDO:206701/attributed", source="ORDO:206701/ntbt"}
xref: Orphanet:206701 {source="MONDO:equivalentTo"}
xref: SCTID:230253001 {source="MONDO:kboom-pr-1.00/0.79/7.73", source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="linkedlifedata"} ! spinal muscular atrophy
property_value: exactMatch http://identifiers.org/snomedct/230253001
property_value: exactMatch Orphanet:206701

[Term]
id: MONDO:0016114
name: bulbospinal muscular atrophy of childhood
def: "A bulbospinal muscular atrophy that occurs during childhood." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:206704"}
synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/childhood]
synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern]
synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric bulbospinal muscular atrophy" RELATED [MONDO:patterns/childhood]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:206704", source="ORDO:206704/attributed", source="ORDO:206704/ntbt"}
xref: Orphanet:206704 {source="MONDO:equivalentTo"}
is_a: MONDO:0009672 ! juvenile spinal muscular atrophy
is_a: MONDO:0016113 {source="MONDO:Redundant", source="MONDOLEX:0016114", source="Orphanet:206704"} ! bulbospinal muscular atrophy
property_value: exactMatch Orphanet:206704

[Term]
id: MONDO:0016115
name: bulbospinal muscular atrophy of adulthood
def: "A bulbospinal muscular atrophy that occurs in an adult." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:206707"}
synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern]
synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707]
synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:206707/attributed", source="ORDO:206707/ntbt", source="Orphanet:206707"}
xref: Orphanet:206707 {source="MONDO:equivalentTo"}
is_a: MONDO:0010056 ! adult spinal muscular atrophy
is_a: MONDO:0016113 {source="MONDO:Redundant", source="MONDOLEX:0016115", source="Orphanet:206707"} ! bulbospinal muscular atrophy
property_value: exactMatch Orphanet:206707

[Term]
id: MONDO:0016116
name: generalized bulbospinal muscular atrophy
subset: ordo_group_of_disorders {source="Orphanet:206710"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:206710", source="ORDO:206710/attributed", source="ORDO:206710/ntbt"}
xref: Orphanet:206710 {source="MONDO:equivalentTo"}
is_a: MONDO:0016113 {source="MONDOLEX:0016116", source="Orphanet:206710"} ! bulbospinal muscular atrophy
property_value: exactMatch Orphanet:206710

[Term]
id: MONDO:0016117
name: muscular lipidosis
subset: ordo_group_of_disorders {source="Orphanet:206953"}
synonym: "lipid storage myopathy" EXACT [Orphanet:206953]
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:206953 {source="MONDO:equivalentTo"}
xref: SCTID:240095001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.44"}
xref: UMLS:C0410214 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:206953", source="MONDO:equivalentTo"}
is_a: MONDO:0020123 {source="Orphanet:206953", source="linkedlifedata"} ! metabolic myopathy
property_value: exactMatch http://identifiers.org/snomedct/240095001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410214
property_value: exactMatch Orphanet:206953

[Term]
id: MONDO:0016118
name: muscular glycogenosis
subset: ordo_group_of_disorders {source="Orphanet:206959"}
synonym: "glycogen storage myopathy" EXACT [Orphanet:206959]
xref: ICD10:E74.0 {source="MONDO:relatedTo", source="ORDO:206959/attributed", source="ORDO:206959/ntbt", source="Orphanet:206959"}
xref: Orphanet:206959 {source="MONDO:equivalentTo"}
is_a: MONDO:0020123 {source="Orphanet:206959"} ! metabolic myopathy
property_value: exactMatch Orphanet:206959

[Term]
id: MONDO:0016119
name: obsolete mitochondrial myopathy
is_obsolete: true
replaced_by: MONDO:0009637

[Term]
id: MONDO:0016120
name: myotonic syndrome
subset: ordo_group_of_disorders {source="Orphanet:206970"}
xref: ICD10:G71.1 {source="ORDO:206970/e", source="ORDO:206970/specific", source="Orphanet:206970"}
xref: MedDRA:10028658 {source="ORDO:206970/e", source="Orphanet:206970"}
xref: MESH:D020967 {source="MONDO:equivalentTo", source="ORDO:206970/e", source="Orphanet:206970"}
xref: Orphanet:206970 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020120 {source="Orphanet:206970"} ! skeletal muscle disease
property_value: exactMatch http://identifiers.org/meddra/10028658
property_value: exactMatch http://identifiers.org/mesh/D020967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0553604
property_value: exactMatch Orphanet:206970

[Term]
id: MONDO:0016121
name: congenital myotonia
subset: ordo_group_of_disorders {source="Orphanet:206973"}
xref: ICD10:G71.1 {source="ORDO:206973/inclusion", source="ORDO:206973/ntbt", source="Orphanet:206973"}
xref: Orphanet:206973 {source="MONDO:equivalentTo"}
is_a: MONDO:0016120 {source="Orphanet:206973"} ! myotonic syndrome
property_value: exactMatch Orphanet:206973

[Term]
id: MONDO:0016122
name: periodic paralysis (disease)
comment: Editor note: classified as genetic in ORDO but we treat as neutral here
subset: ordo_group_of_disorders {source="Orphanet:206976"}
synonym: "periodic paralysis" EXACT [MONDO:ambiguous]
xref: HP:0003768 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G72.3 {source="ORDO:206976/e", source="Orphanet:206976"}
xref: MedDRA:10016208 {source="ORDO:206976/e", source="Orphanet:206976"}
xref: Orphanet:206976 {source="MONDO:equivalentTo"}
xref: UMLS:C1279412 {source="ORDO:206976/e", source="Orphanet:206976", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN231077 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020120 {source="Orphanet:206976", source="Orphanet:206976/inferred"} ! skeletal muscle disease
property_value: exactMatch http://identifiers.org/meddra/10016208
property_value: exactMatch http://identifiers.org/mesh/D010245
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030443
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231077
property_value: exactMatch Orphanet:206976

[Term]
id: MONDO:0016123
name: muscular tumor
comment: Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired.
subset: ordo_group_of_disorders {source="Orphanet:206982"}
xref: Orphanet:206982 {source="MONDO:equivalentTo"}
is_a: MONDO:0002848 ! skeletal muscle neoplasm
relationship: excluded_subClassOf MONDO:0016105 {source="Orphanet:206982"} ! acquired skeletal muscle disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282606
property_value: exactMatch Orphanet:206982

[Term]
id: MONDO:0016124
name: drug and/or toxic myopathy
subset: ordo_group_of_disorders {source="Orphanet:206985"}
xref: Orphanet:206985 {source="MONDO:equivalentTo"}
is_a: MONDO:0016105 {source="Orphanet:206985"} ! acquired skeletal muscle disease
property_value: exactMatch Orphanet:206985

[Term]
id: MONDO:0016125
name: infectious, fungal or parasitic myopathy
subset: ordo_group_of_disorders {source="Orphanet:206988"}
xref: ICD10:M60.0 {source="Orphanet:206988", source="ORDO:206988/e"}
xref: Orphanet:206988 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 ! myopathy
is_a: MONDO:0016105 {source="Orphanet:206988"} ! acquired skeletal muscle disease
is_a: MONDO:0020010 ! infectious disease of the nervous system
intersection_of: MONDO:0005336 ! myopathy
intersection_of: MONDO:0005550 ! infectious disease
property_value: exactMatch Orphanet:206988

[Term]
id: MONDO:0016126
name: viral myositis
subset: ordo_disease {source="Orphanet:206991"}
xref: ICD10:M60.0 {source="ORDO:206991/ntbt", source="Orphanet:206991"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051512 {source="Orphanet:206991", source="ORDO:206991/e"}
xref: Orphanet:206991 {source="MONDO:equivalentTo"}
xref: SCTID:240105009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.85"}
xref: UMLS:C0150005 {source="MONDO:equivalentTo", source="Orphanet:206991", source="ORDO:206991/e"}
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0016125 {source="Orphanet:206991"} ! infectious, fungal or parasitic myopathy
is_a: MONDO:0021167 ! myositis
property_value: exactMatch http://identifiers.org/meddra/10051512
property_value: exactMatch http://identifiers.org/snomedct/240105009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0150005
property_value: exactMatch Orphanet:206991

[Term]
id: MONDO:0016127
name: bacterial myositis
subset: ordo_disease {source="Orphanet:206994"}
xref: ICD10:M60.0 {source="ORDO:206994/ntbt", source="Orphanet:206994"}
xref: Orphanet:206994 {source="MONDO:equivalentTo"}
xref: SCTID:30330001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.43/0.53"}
is_a: MONDO:0005113 ! bacterial infectious disease
is_a: MONDO:0016125 {source="Orphanet:206994"} ! infectious, fungal or parasitic myopathy
is_a: MONDO:0021167 ! myositis
property_value: exactMatch http://identifiers.org/snomedct/30330001
property_value: exactMatch Orphanet:206994

[Term]
id: MONDO:0016128
name: parasitic myositis
subset: ordo_group_of_disorders {source="Orphanet:206997"}
xref: ICD10:M60.0 {source="Orphanet:206997", source="ORDO:206997/ntbt"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:206997 {source="MONDO:equivalentTo"}
xref: SCTID:60970005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/24.81"}
xref: UMLS:C0263997 {source="Orphanet:206997", source="ORDO:206997/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016125 {source="Orphanet:206997"} ! infectious, fungal or parasitic myopathy
property_value: exactMatch http://identifiers.org/snomedct/60970005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263997
property_value: exactMatch Orphanet:206997

[Term]
id: MONDO:0016129
name: eosinophilic gastroenteritis
def: "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." [Orphanet:2070]
subset: ordo_disease {source="Orphanet:2070"}
synonym: "EGE" EXACT [Orphanet:2070]
synonym: "eosinophilic enteritis" EXACT [Orphanet:2070]
synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330]
synonym: "eosinophilic gastroenterocolitis" EXACT [Orphanet:2070]
xref: COHD:443406 {source="MONDO:equivalentTo"}
xref: DOID:4031 {source="MONDO:equivalentTo"}
xref: GARD:0009142 {source="MONDO:equivalentTo"}
xref: ICD10:K52.8 {source="ORDO:2070/ntbt", source="Orphanet:2070"}
xref: ICD9:558.41 {source="MONDO:equivalentTo", source="i2s", source="DOID:4031"}
xref: MedDRA:10017902 {source="Orphanet:2070", source="ORDO:2070/e"}
xref: NCIT:C35330 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4031"}
xref: Orphanet:2070 {source="MONDO:equivalentTo"}
xref: SCTID:359804008 {source="MONDO:equivalentTo", source="DOID:4031", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1262481 {source="NCIT:C35330", source="MONDO:equivalentTo", source="Orphanet:2070", source="ORDO:2070/e", source="DOID:4031"}
is_a: MONDO:0002269 {source="DOID:4031", source="NCIT:C35330", source="linkedlifedata"} ! gastroenteritis
is_a: MONDO:0015111 {source="Orphanet:2070"} ! gastroesophageal disease
is_a: MONDO:0018438 {source="Orphanet:2070"} ! eosinophilic gastrointestinal disease
property_value: closeMatch http://identifiers.org/snomedct/32183007
property_value: closeMatch http://identifiers.org/snomedct/68270003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2062326
property_value: exactMatch DOID:4031
property_value: exactMatch http://identifiers.org/meddra/10017902
property_value: exactMatch http://identifiers.org/mesh/C535952
property_value: exactMatch http://identifiers.org/snomedct/359804008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1262481
property_value: exactMatch NCIT:C35330
property_value: exactMatch Orphanet:2070

[Term]
id: MONDO:0016130
name: fungal myositis
subset: ordo_disease {source="Orphanet:207000"}
xref: ICD10:M60.0 {source="ORDO:207000/ntbt", source="Orphanet:207000"}
xref: Orphanet:207000 {source="MONDO:equivalentTo"}
xref: SCTID:240111007 {source="MONDO:kboom-pr-1.00/0.84/14.51", source="MONDO:equivalentTo"}
xref: UMLS:C0410251 {source="MONDO:equivalentTo", source="Orphanet:207000", source="ORDO:207000/e"}
is_a: MONDO:0002041 ! fungal infectious disease
is_a: MONDO:0016125 {source="Orphanet:207000"} ! infectious, fungal or parasitic myopathy
is_a: MONDO:0021167 ! myositis
property_value: exactMatch http://identifiers.org/snomedct/240111007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410251
property_value: exactMatch Orphanet:207000

[Term]
id: MONDO:0016131
name: spinal muscular atrophy associated with central nervous system anomaly
subset: ordo_group_of_disorders {source="Orphanet:207012"}
xref: Orphanet:207012 {source="MONDO:equivalentTo"}
is_a: MONDO:0016113 {source="Orphanet:207012"} ! bulbospinal muscular atrophy
property_value: exactMatch Orphanet:207012

[Term]
id: MONDO:0016132
name: rare hereditary disease with peripheral neuropathy
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:207015"}
xref: Orphanet:207015 {source="MONDO:equivalentTo"}
is_a: MONDO:0020127 {source="Orphanet:207015"} ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392553
property_value: exactMatch Orphanet:207015
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016133
name: rare hereditary metabolic disease with peripheral neuropathy
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:207018"}
xref: Orphanet:207018 {source="MONDO:equivalentTo"}
xref: UMLS:CN200897 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016132 {source="Orphanet:207018"} ! rare hereditary disease with peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200897
property_value: exactMatch Orphanet:207018
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016134
name: rare hereditary systemic disease with peripheral neuropathy
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:207021"}
xref: Orphanet:207021 {source="MONDO:equivalentTo"}
xref: UMLS:CN200898 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016132 {source="Orphanet:207021"} ! rare hereditary disease with peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200898
property_value: exactMatch Orphanet:207021
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016135
name: rare hereditary neurologic disease with peripheral neuropathy
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:207025"}
xref: Orphanet:207025 {source="MONDO:equivalentTo"}
xref: UMLS:CN200899 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016132 {source="Orphanet:207025"} ! rare hereditary disease with peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200899
property_value: exactMatch Orphanet:207025
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016136
name: cerebellar ataxia with peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:207028"}
xref: ICD10:G60.2 {source="ORDO:207028/specific", source="Orphanet:207028", source="ORDO:207028/e"}
xref: Orphanet:207028 {source="MONDO:equivalentTo"}
is_a: MONDO:0016135 {source="Orphanet:207028"} ! rare hereditary neurologic disease with peripheral neuropathy
property_value: exactMatch Orphanet:207028

[Term]
id: MONDO:0016137
name: acute and subacute inflammatory demyelinating polyneuropathy
subset: ordo_group_of_disorders {source="Orphanet:207038"}
synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:207038]
xref: Orphanet:207038 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:207038"} ! acquired peripheral neuropathy
property_value: exactMatch Orphanet:207038

[Term]
id: MONDO:0016138
name: malignant lymphoma with peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:207046"}
xref: Orphanet:207046 {source="MONDO:equivalentTo"}
is_a: MONDO:0016180 {source="Orphanet:207046"} ! hematological disease associated with an acquired peripheral neuropathy
property_value: exactMatch Orphanet:207046

[Term]
id: MONDO:0016139
name: qualitative or quantitative protein defects in neuromuscular diseases
subset: ordo_group_of_disorders {source="Orphanet:207049"}
xref: Orphanet:207049 {source="MONDO:equivalentTo"}
xref: UMLS:CN200901 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019117 {source="Orphanet:207049", source="Orphanet:207049/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200901
property_value: exactMatch Orphanet:207049

[Term]
id: MONDO:0016140
name: sarcoglycanopathy
def: "deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." [MESH:D058088]
subset: ordo_group_of_disorders {source="Orphanet:207052"}
synonym: "qualitative or quantitative defects of sarcoglycan" EXACT [Orphanet:207052]
xref: MESH:D058088 {source="MONDO:equivalentTo"}
xref: Orphanet:207052 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207052"} ! qualitative or quantitative protein defects in neuromuscular diseases
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936331
property_value: exactMatch http://identifiers.org/mesh/D058088
property_value: exactMatch Orphanet:207052

[Term]
id: MONDO:0016141
name: qualitative or quantitative defects of alpha-sarcoglycan
subset: ordo_group_of_disorders {source="Orphanet:207060"}
synonym: "alpha-sarcoglycanopathy" EXACT [MONDO:cjm]
xref: Orphanet:207060 {source="MONDO:equivalentTo"}
is_a: MONDO:0016140 {source="Orphanet:207060"} ! sarcoglycanopathy
property_value: exactMatch Orphanet:207060

[Term]
id: MONDO:0016142
name: qualitative or quantitative defects of beta-sarcoglycan
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:207063"}
synonym: "beta-sarcoglycanopathy" EXACT [MONDO:cjm]
xref: GARD:0000870 {source="MONDO:equivalentTo"}
xref: HGNC:10806 {source="GARD:0000870", source="MONDO:otherHierarchy"}
xref: MESH:C535435 {source="MONDO:equivalentTo"}
xref: Orphanet:207063 {source="MONDO:equivalentTo"}
xref: UMLS:C2930900 {source="GARD:0000870", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016140 {source="Orphanet:207063"} ! sarcoglycanopathy
property_value: exactMatch http://identifiers.org/mesh/C535435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930900
property_value: exactMatch Orphanet:207063

[Term]
id: MONDO:0016143
name: qualitative or quantitative defects of gamma-sarcoglycan
subset: ordo_group_of_disorders {source="Orphanet:207067"}
synonym: "gamma-sarcoglycanopathy" EXACT [MONDO:cjm]
xref: Orphanet:207067 {source="MONDO:equivalentTo"}
is_a: MONDO:0016140 {source="Orphanet:207067"} ! sarcoglycanopathy
property_value: exactMatch Orphanet:207067

[Term]
id: MONDO:0016144
name: qualitative or quantitative defects of delta-sarcoglycan
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:207070"}
synonym: "delta-sarcoglycanopathy" EXACT [MONDO:cjm]
xref: GARD:0001799 {source="MONDO:equivalentTo"}
xref: Orphanet:207070 {source="MONDO:equivalentTo"}
xref: UMLS:CN072428 {source="MONDO:equivalentTo"}
is_a: MONDO:0016140 {source="Orphanet:207070"} ! sarcoglycanopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072428
property_value: exactMatch Orphanet:207070

[Term]
id: MONDO:0016145
name: qualitative or quantitative defects of dysferlin
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:207073"}
synonym: "dysferlinopathy" EXACT [Orphanet:207073]
xref: GARD:0002003 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0002031 {source="MONDO:equivalentTo"}
xref: MESH:C537995 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:207073 {source="MONDO:equivalentTo"}
xref: UMLS:C2931687 {source="Orphanet:207073", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0016139 {source="Orphanet:207073"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch http://identifiers.org/mesh/C537995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931687
property_value: exactMatch Orphanet:207073

[Term]
id: MONDO:0016146
name: caveolinopathy
def: "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" [htps://www.ncbi.nlm.nih.gov/books/NBK1385/]
subset: ordo_group_of_disorders {source="Orphanet:207078"}
synonym: "qualitative or quantitative defects of caveolin-3" EXACT [Orphanet:207078]
xref: Orphanet:207078 {source="MONDO:equivalentTo"}
xref: UMLS:CN043575 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207078"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043575
property_value: exactMatch Orphanet:207078

[Term]
id: MONDO:0016147
name: qualitative or quantitative defects of dystrophin
subset: ordo_group_of_disorders {source="Orphanet:207085"}
synonym: "dystrophinopathy" EXACT [Orphanet:207085]
xref: Orphanet:207085 {source="MONDO:equivalentTo"}
xref: UMLS:CN043595 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207085"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043595
property_value: exactMatch Orphanet:207085

[Term]
id: MONDO:0016148
name: qualitative or quantitative defects of collagen 6
subset: ordo_group_of_disorders {source="Orphanet:207090"}
synonym: "qualitative or quantitative defects of collagen type 6" EXACT [MONDORULE:1, Orphanet:207090]
xref: Orphanet:207090 {source="MONDO:equivalentTo"}
is_a: MONDO:0004603 ! collagenopathy
is_a: MONDO:0016139 {source="Orphanet:207090"} ! qualitative or quantitative protein defects in neuromuscular diseases
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch Orphanet:207090

[Term]
id: MONDO:0016149
name: qualitative or quantitative defects of merosin
subset: ordo_group_of_disorders {source="Orphanet:207094"}
xref: Orphanet:207094 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207094"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207094

[Term]
id: MONDO:0016150
name: qualitative or quantitative defects of integrin alpha-7
subset: ordo_group_of_disorders {source="Orphanet:207098"}
synonym: "Integrinopathy" EXACT [Orphanet:207098]
xref: Orphanet:207098 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207098"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207098

[Term]
id: MONDO:0016151
name: qualitative or quantitative defects of perlecan
subset: ordo_group_of_disorders {source="Orphanet:207101"}
xref: Orphanet:207101 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207101"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207101

[Term]
id: MONDO:0016152
name: qualitative or quantitative defects of calpain
comment: Editor note: TODO request for IPR001300
subset: ordo_group_of_disorders {source="Orphanet:207104"}
xref: Orphanet:207104 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207104"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207104

[Term]
id: MONDO:0016153
name: qualitative or quantitative defects of TRIM32
subset: ordo_group_of_disorders {source="Orphanet:207107"}
xref: Orphanet:207107 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207107"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207107

[Term]
id: MONDO:0016154
name: qualitative or quantitative defects of myotubularin
subset: ordo_group_of_disorders {source="Orphanet:207110"}
xref: Orphanet:207110 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:207110"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:207110

[Term]
id: MONDO:0016155
name: qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
subset: ordo_group_of_disorders {source="Orphanet:207113"}
synonym: "secondary alpha-dystroglycanopathy" EXACT [Orphanet:207113]
synonym: "secondary dystroglycanopathy" EXACT [Orphanet:207113]
xref: Orphanet:207113 {source="MONDO:equivalentTo"}
is_a: MONDO:0017741 ! disorder of protein O-glycosylation
is_a: MONDO:0018282 {source="Orphanet:207113"} ! qualitative or quantitative defects of alpha-dystroglycan
property_value: exactMatch Orphanet:207113

[Term]
id: MONDO:0016156
name: qualitative or quantitative defects of FKRP
subset: ordo_group_of_disorders {source="Orphanet:207119"}
xref: Orphanet:207119 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="Orphanet:207119"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:207119

[Term]
id: MONDO:0016157
name: qualitative or quantitative defects of fukutin
subset: ordo_group_of_disorders {source="Orphanet:207122"}
xref: Orphanet:207122 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="Orphanet:207122"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:207122

[Term]
id: MONDO:0016158
name: narcolepsy-cataplexy syndrome
def: "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [Orphanet:2073]
subset: gard_rare {source="GARD:0007162"}
subset: ordo_disease {source="Orphanet:2073"}
synonym: "GC)lineau disease" EXACT [Orphanet:2073]
synonym: "Gelineau syndrome" RELATED [GARD:0007162]
synonym: "Gelineau's syndrome" RELATED [GARD:0007162]
synonym: "Gélineau disease" EXACT [Orphanet:2073]
synonym: "narcolepsy with cataplexy" EXACT [MONDO:0005069]
synonym: "narcolepsy-cataplexy syndrome" EXACT [GARD:0007162]
synonym: "narcoleptic syndrome" RELATED [GARD:0007162]
synonym: "paroxysmal sleep" RELATED [GARD:0007162]
xref: EFO:0000614 {source="MONDO:equivalentTo"}
xref: GARD:0007162 {source="MONDO:equivalentTo"}
xref: ICD10:G47.4 {source="MONDO:equivalentTo", source="ORDO:2073/e", source="Orphanet:2073"}
xref: ICD10:G47.41 {source="DOID:8986"}
xref: ICD10:G47.419 {source="DOID:8986", source="MONDO:directSiblingOf"}
xref: ICD9:347.0 {source="DOID:8986", source="EFO:0000614"}
xref: MedDRA:10028713 {source="ORDO:2073/e", source="Orphanet:2073"}
xref: Orphanet:2073 {source="DOID:8986", source="GARD:0007162", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="EFO:0000614/inferred", source="OWLReasoner:2017"} ! brain disease
is_a: MONDO:0021107 {source="MONDO:cjm"} ! narcolepsy
disjoint_from: MONDO:0019371 ! narcolepsy without cataplexy
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155059003
property_value: closeMatch http://identifiers.org/snomedct/267702006
property_value: exactMatch http://identifiers.org/meddra/10028713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751362
property_value: exactMatch Orphanet:2073
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7162/narcolepsy xsd:anyURI {source="GARD:0007162"}

[Term]
id: MONDO:0016159
name: Gemignani syndrome
subset: gard_rare {source="GARD:0002451"}
subset: ordo_malformation_syndrome {source="Orphanet:2074"}
synonym: "spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness" RELATED [GARD:0002451]
synonym: "spinocerebellar ataxia-amyotrophy-deafness syndrome" EXACT [Orphanet:2074]
xref: GARD:0002451 {source="MONDO:equivalentTo"}
xref: MESH:C537678 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:2074", source="ORDO:2074/e"}
xref: Orphanet:2074 {source="MONDO:equivalentTo"}
xref: UMLS:C2931587 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2074", source="ORDO:2074/e"}
is_a: MONDO:0019589 {source="Orphanet:2074"} ! syndromic genetic deafness
is_a: MONDO:0020047 {source="Orphanet:2074"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch http://identifiers.org/mesh/C537678
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931587
property_value: exactMatch Orphanet:2074
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome xsd:anyURI {source="GARD:0002451"}

[Term]
id: MONDO:0016160
name: X-linked intellectual disability-epilepsy syndrome
subset: ordo_group_of_disorders {source="Orphanet:2076"}
xref: Orphanet:2076 {source="MONDO:equivalentTo"}
xref: UMLS:CN226857 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="Orphanet:2076"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="Orphanet:2076"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226857
property_value: exactMatch Orphanet:2076

[Term]
id: MONDO:0016161
name: cerebral gigantism-jaw cysts syndrome
def: "Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." [Orphanet:2081]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2081"}
synonym: "cerebral gigantism jaw cysts" RELATED [GARD:0001206]
synonym: "Cramer Niederdellmann syndrome" RELATED [GARD:0001206]
synonym: "Cramer-Niederdellmann syndrome" EXACT [Orphanet:2081]
xref: GARD:0001206 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="ORDO:2081/ntbt", source="Orphanet:2081"}
xref: Orphanet:2081 {source="MONDO:equivalentTo", source="GARD:0001206"}
xref: SCTID:725418006 {source="MONDO:equivalentTo"}
xref: UMLS:CN200907 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017120 {source="Orphanet:2081"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/snomedct/725418006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200907
property_value: exactMatch Orphanet:2081
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts xsd:anyURI {source="GARD:0001206"}

[Term]
id: MONDO:0016162
name: bilateral frontal polymicrogyria
def: "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus . Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal . Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes ( mutations ) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria]
subset: gard_rare {source="GARD:0010783"}
subset: ordo_clinical_subtype {source="Orphanet:208444"}
xref: GARD:0010783 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:208444/attributed", source="ORDO:208444/ntbt", source="Orphanet:208444"}
xref: Orphanet:208444 {source="MONDO:equivalentTo"}
is_a: MONDO:0017091 {source="Orphanet:208444"} ! bilateral polymicrogyria
property_value: exactMatch Orphanet:208444
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria xsd:anyURI {source="GARD:0010783"}

[Term]
id: MONDO:0016163
name: autosomal dominant cerebellar ataxia type II
subset: ordo_group_of_disorders {source="Orphanet:208508"}
synonym: "ADCA2" EXACT [Orphanet:208508]
synonym: "ADCAII" EXACT [Orphanet:208508]
synonym: "autosomal dominant cerebellar ataxia type 2" EXACT [Orphanet:208508]
synonym: "autosomal dominant cerebellar ataxia type II" EXACT [Orphanet:208508]
xref: Orphanet:208508 {source="MONDO:equivalentTo"}
xref: UMLS:CN229031 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="Orphanet:208508"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229031
property_value: exactMatch Orphanet:208508

[Term]
id: MONDO:0016164
name: herpetiform pemphigus
def: "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." [Orphanet:208524]
subset: ordo_disease {source="Orphanet:208524"}
xref: ICD10:L10.2 {source="ORDO:208524/ntbt", source="Orphanet:208524"}
xref: Orphanet:208524 {source="MONDO:equivalentTo"}
xref: UMLS:CN226858 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018745 {source="Orphanet:208524"} ! superficial pemphigus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226858
property_value: exactMatch Orphanet:208524

[Term]
id: MONDO:0016165
name: genetic hypoparathyroidism
def: "Genetic hypoparathyroidism." []
subset: ordo_group_of_disorders {source="Orphanet:208593"}
synonym: "genetic hypoparathyroidism" EXACT [MONDO:patterns/genetic]
xref: Orphanet:208593 {source="MONDO:equivalentTo"}
is_a: MONDO:0001220 ! hypoparathyroidism
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015970 {source="Orphanet:208593"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
intersection_of: MONDO:0001220 ! hypoparathyroidism
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:208593

[Term]
id: MONDO:0016166
name: genetic hyperparathyroidism
def: "Genetic hyperparathyroidism." []
subset: ordo_group_of_disorders {source="Orphanet:208596"}
synonym: "genetic hyperparathyroidism" EXACT [MONDO:patterns/genetic]
xref: Orphanet:208596 {source="MONDO:equivalentTo"}
is_a: MONDO:0001741 ! hyperparathyroidism
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015970 {source="Orphanet:208596"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
intersection_of: MONDO:0001741 ! hyperparathyroidism
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:208596

[Term]
id: MONDO:0016167
name: optic pathway glioma
def: "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term)." [Orphanet:2086]
subset: gard_rare {source="GARD:0004107"}
subset: ordo_disease {source="Orphanet:2086"}
synonym: "glioma of optic tract" EXACT [NCIT:C8567]
synonym: "glioma of the optic tract" EXACT [NCIT:C8567]
synonym: "glioma of the visual pathway" EXACT [NCIT:C8567]
synonym: "glioma of visual pathway" EXACT [NCIT:C8567]
synonym: "optic pathway glioma" EXACT [NCIT:C8567]
synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567]
synonym: "visual pathway glioma" EXACT [NCIT:C8567]
xref: GARD:0004107 {source="MONDO:equivalentTo"}
xref: ICD10:D33.3 {source="ORDO:2086/ntbt", source="Orphanet:2086"}
xref: NCIT:C8567 {source="MONDO:equivalentTo"}
xref: Orphanet:2086 {source="MONDO:equivalentTo"}
xref: UMLS:C0796418 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8567", source="Orphanet:2086"}
is_a: MONDO:0001834 ! visual pathway disease
is_a: MONDO:0016749 {source="Orphanet:2086"} ! tumor of cranial and spinal nerves
is_a: MONDO:0017611 ! pituitary tumor
is_a: MONDO:0019833 {source="Orphanet:2086"} ! pituitary hormone deficiency from tumoral origin
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C8567"} ! glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796418
property_value: exactMatch NCIT:C8567
property_value: exactMatch Orphanet:2086
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma xsd:anyURI {source="GARD:0004107"}

[Term]
id: MONDO:0016168
name: cryopyrin-associated periodic syndrome
def: "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)." [Orphanet:208650]
subset: ordo_group_of_disorders {source="Orphanet:208650"}
synonym: "caps" BROAD [Orphanet:208650]
synonym: "Cryopyrinopathy" EXACT [Orphanet:208650]
xref: GARD:0010927 {source="MONDO:equivalentTo"}
xref: ICD10:E85.0 {source="ORDO:208650/attributed", source="ORDO:208650/ntbt", source="Orphanet:208650"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068850 {source="Orphanet:208650", source="ORDO:208650/e"}
xref: MESH:D056587 {source="MONDO:equivalentTo", source="Orphanet:208650", source="ORDO:208650/e"}
xref: NCIT:C84657 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: Orphanet:208650 {source="MONDO:equivalentTo"}
xref: SCTID:430079001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C2316212 {source="NCIT:C84657", source="MONDO:equivalentTo", source="Orphanet:208650", source="ORDO:208650/e"}
is_a: MONDO:0017369 {source="Orphanet:208650"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:208650"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017953 {source="MESH:D056587", source="Orphanet:208650"} ! hereditary periodic fever syndrome
property_value: exactMatch http://identifiers.org/meddra/10068850
property_value: exactMatch http://identifiers.org/mesh/D056587
property_value: exactMatch http://identifiers.org/snomedct/430079001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2316212
property_value: exactMatch NCIT:C84657
property_value: exactMatch Orphanet:208650

[Term]
id: MONDO:0016169
name: chronic acquired demyelinating polyneuropathy
def: "Chronic form of acquired peripheral neuropathy." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:208974"}
synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
synonym: "CADP" EXACT [Orphanet:208974]
synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern]
xref: Orphanet:208974 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="MONDO:Redundant", source="Orphanet:208974"} ! acquired peripheral neuropathy
property_value: exactMatch Orphanet:208974

[Term]
id: MONDO:0016170
name: chronic polyradiculoneuropathy
def: "Chronic form of polyradiculoneuropathy." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:208978"}
synonym: "polyradiculoneuropathy, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD10:G61.8 {source="Orphanet:208978", source="ORDO:208978/ntbt"}
xref: Orphanet:208978 {source="MONDO:equivalentTo"}
is_a: MONDO:0003335 ! chronic polyneuropathy
is_a: MONDO:0006915 ! polyradiculoneuropathy
is_a: MONDO:0016169 {source="Orphanet:208978"} ! chronic acquired demyelinating polyneuropathy
property_value: exactMatch Orphanet:208978

[Term]
id: MONDO:0016171
name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
subset: ordo_disease {source="Orphanet:208981"}
xref: ICD10:G61.8 {source="MONDO:subClassOf", source="ORDO:208981/ntbt", source="Orphanet:208981"}
xref: Orphanet:208981 {source="MONDO:equivalentTo"}
is_a: MONDO:0016170 {source="Orphanet:208981"} ! chronic polyradiculoneuropathy
is_a: MONDO:0016178 {source="Orphanet:208981"} ! peripheral neuropathy associated with monoclonal gammopathy
property_value: exactMatch Orphanet:208981

[Term]
id: MONDO:0016172
name: acquired sensory ganglionopathy
def: "An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:208984"}
synonym: "acquired sensory ganglionopathy" EXACT [MONDO:patterns/acquired]
synonym: "acquired sensory neuronopathy" EXACT [Orphanet:208984]
xref: Orphanet:208984 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:208984"} ! acquired peripheral neuropathy
is_a: MONDO:0021260 {source="MONDO:Redundant", source="MONDO:cjm"} ! sensory ganglionopathy
intersection_of: MONDO:0021260 ! sensory ganglionopathy
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:208984

[Term]
id: MONDO:0016173
name: non-paraneoplastic sensory ganglionopathy
subset: ordo_group_of_disorders {source="Orphanet:208989"}
synonym: "non-paraneoplastic sensory neuronopathy" EXACT [Orphanet:208989]
xref: Orphanet:208989 {source="MONDO:equivalentTo"}
is_a: MONDO:0016172 {source="Orphanet:208989"} ! acquired sensory ganglionopathy
property_value: exactMatch Orphanet:208989

[Term]
id: MONDO:0016174
name: paraneoplastic sensory ganglionopathy
subset: ordo_group_of_disorders {source="Orphanet:208999"}
synonym: "paraneoplastic sensory neuronopathy" EXACT [Orphanet:208999]
xref: Orphanet:208999 {source="MONDO:equivalentTo"}
is_a: MONDO:0016172 {source="MONDO:Redundant", source="Orphanet:208999"} ! acquired sensory ganglionopathy
is_a: MONDO:0016181 {source="Orphanet:208999"} ! solid tumor associated with an acquired peripheral neuropathy
is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome
intersection_of: MONDO:0016172 ! acquired sensory ganglionopathy
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
property_value: exactMatch Orphanet:208999

[Term]
id: MONDO:0016175
name: cutis laxa
def: "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." [Orphanet:209]
subset: gard_rare {source="GARD:0006227"}
subset: ordo_group_of_disorders {source="Orphanet:209"}
synonym: "cutis laxa" EXACT [DOID:3144]
synonym: "elastolysis" EXACT [NCIT:C84663]
synonym: "generalized elastolysis" RELATED [GARD:0006227]
synonym: "loose skin" EXACT [CSP2005:2716-6258, DOID:3144]
xref: COHD:4242416 {source="MONDO:equivalentTo"}
xref: DOID:3144 {source="MONDO:equivalentTo"}
xref: GARD:0006227 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:3144", source="ORDO:209/ntbt", source="Orphanet:209", source="ORDO:209/inclusion"}
xref: MedDRA:10011692 {source="ORDO:209/e", source="Orphanet:209"}
xref: MESH:D003483 {source="DOID:3144", source="ORDO:209/e", source="MONDO:equivalentTo", source="Orphanet:209", source="MONDO:ontobio"}
xref: NCIT:C84663 {source="DOID:3144", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:123700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:209 {source="DOID:3144", source="MONDO:equivalentTo"}
xref: SCTID:58588007 {source="DOID:3144", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.08"}
xref: UMLS:C0010495 {source="DOID:3144", source="ORDO:209/e", source="MONDO:equivalentTo", source="Orphanet:209", source="NCIT:C84663"}
is_a: MONDO:0015216 {source="Orphanet:209"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015331 {source="Orphanet:209"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015332 {source="Orphanet:209"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015880 {source="Orphanet:209"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0019292 {source="Orphanet:209", source="Orphanet:209/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0020159 {source="Orphanet:209"} ! congenital entropion
property_value: closeMatch http://identifiers.org/snomedct/238825007
property_value: exactMatch DOID:3144
property_value: exactMatch http://identifiers.org/meddra/10011692
property_value: exactMatch http://identifiers.org/mesh/D003483
property_value: exactMatch http://identifiers.org/snomedct/58588007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010495
property_value: exactMatch NCIT:C84663
property_value: exactMatch Orphanet:209
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa xsd:anyURI {source="GARD:0006227"}

[Term]
id: MONDO:0016176
name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
subset: ordo_disease {source="Orphanet:209004"}
xref: ICD10:G61.8 {source="ORDO:209004/ntbt", source="Orphanet:209004"}
xref: Orphanet:209004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016178 {source="Orphanet:209004"} ! peripheral neuropathy associated with monoclonal gammopathy
property_value: exactMatch Orphanet:209004

[Term]
id: MONDO:0016177
name: systemic inflammatory disease associated with an acquired peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:209007"}
xref: Orphanet:209007 {source="MONDO:equivalentTo"}
xref: UMLS:CN200929 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:209007"} ! acquired peripheral neuropathy
is_a: MONDO:0021166 {source="MONDO:cjm"} ! inflammatory disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200929
property_value: exactMatch Orphanet:209007

[Term]
id: MONDO:0016178
name: peripheral neuropathy associated with monoclonal gammopathy
subset: ordo_group_of_disorders {source="Orphanet:209010"}
xref: Orphanet:209010 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:209010"} ! acquired peripheral neuropathy
relationship: disease_has_feature MONDO:0004960 ! monoclonal gammopathy
property_value: exactMatch Orphanet:209010

[Term]
id: MONDO:0016179
name: acquired amyloid peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:209013"}
xref: Orphanet:209013 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:209013"} ! acquired peripheral neuropathy
property_value: exactMatch Orphanet:209013

[Term]
id: MONDO:0016180
name: hematological disease associated with an acquired peripheral neuropathy
comment: Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease
subset: ordo_group_of_disorders {source="Orphanet:209016"}
xref: Orphanet:209016 {source="MONDO:equivalentTo"}
xref: UMLS:CN200930 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 ! hematologic disease
relationship: disease_has_major_feature MONDO:0015923 {source="MONDO:ModifiedFromOrphanet"} ! acquired peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200930
property_value: exactMatch Orphanet:209016

[Term]
id: MONDO:0016181
name: solid tumor associated with an acquired peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:209019"}
xref: Orphanet:209019 {source="MONDO:equivalentTo"}
xref: UMLS:CN200931 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:209019"} ! acquired peripheral neuropathy
relationship: disease_has_feature MONDO:0005070 ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200931
property_value: exactMatch Orphanet:209019

[Term]
id: MONDO:0016182
name: qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
subset: ordo_group_of_disorders {source="Orphanet:209024"}
synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [Orphanet:209024]
xref: Orphanet:209024 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="MONDO:Redundant", source="Orphanet:209024"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:209024

[Term]
id: MONDO:0016183
name: qualitative or quantitative defects of protein glycosyltransferase-like
subset: ordo_group_of_disorders {source="Orphanet:209027"}
xref: Orphanet:209027 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="Orphanet:209027"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:209027

[Term]
id: MONDO:0016184
name: qualitative or quantitative defects of protein O-mannosyltransferase 1
subset: ordo_group_of_disorders {source="Orphanet:209030"}
synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 1" EXACT [MONDORULE:1, Orphanet:209030]
xref: Orphanet:209030 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="Orphanet:209030"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:209030

[Term]
id: MONDO:0016185
name: qualitative or quantitative defects of protein O-mannosyltransferase 2
subset: ordo_group_of_disorders {source="Orphanet:209033"}
synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 2" EXACT [MONDORULE:1, Orphanet:209033]
xref: Orphanet:209033 {source="MONDO:equivalentTo"}
is_a: MONDO:0016155 {source="Orphanet:209033"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: exactMatch Orphanet:209033

[Term]
id: MONDO:0016186
name: qualitative or quantitative defects of myofibrillar proteins
subset: ordo_group_of_disorders {source="Orphanet:209038"}
xref: Orphanet:209038 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209038"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209038

[Term]
id: MONDO:0016187
name: qualitative or quantitative defects of desmin
subset: ordo_group_of_disorders {source="Orphanet:209041"}
xref: Orphanet:209041 {source="MONDO:equivalentTo"}
is_a: MONDO:0016186 {source="Orphanet:209041"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: exactMatch Orphanet:209041

[Term]
id: MONDO:0016188
name: qualitative or quantitative defects of alphaB-cristallin
subset: ordo_group_of_disorders {source="Orphanet:209044"}
xref: Orphanet:209044 {source="MONDO:equivalentTo"}
is_a: MONDO:0016186 {source="Orphanet:209044"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: exactMatch Orphanet:209044

[Term]
id: MONDO:0016189
name: qualitative or quantitative defects of filamin C
subset: ordo_group_of_disorders {source="Orphanet:209047"}
synonym: "qualitative or quantitative defects of filamin type C" EXACT [MONDORULE:1, Orphanet:209047]
xref: Orphanet:209047 {source="MONDO:equivalentTo"}
is_a: MONDO:0016186 {source="Orphanet:209047"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: exactMatch Orphanet:209047

[Term]
id: MONDO:0016190
name: qualitative or quantitative defects of protein ZASP
subset: ordo_group_of_disorders {source="Orphanet:209050"}
xref: Orphanet:209050 {source="MONDO:equivalentTo"}
is_a: MONDO:0016186 {source="Orphanet:209050"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: exactMatch Orphanet:209050

[Term]
id: MONDO:0016191
name: qualitative or quantitative defects of titin
subset: ordo_group_of_disorders {source="Orphanet:209053"}
xref: Orphanet:209053 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209053"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209053

[Term]
id: MONDO:0016192
name: qualitative or quantitative defects of telethonin
subset: ordo_group_of_disorders {source="Orphanet:209056"}
xref: Orphanet:209056 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209056"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209056

[Term]
id: MONDO:0016193
name: qualitative or quantitative defects of alpha-actin
subset: ordo_group_of_disorders {source="Orphanet:209059"}
xref: Orphanet:209059 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209059"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209059

[Term]
id: MONDO:0016194
name: qualitative or quantitative defects of nebulin
subset: ordo_group_of_disorders {source="Orphanet:209182"}
xref: Orphanet:209182 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209182"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209182

[Term]
id: MONDO:0016195
name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
subset: ordo_group_of_disorders {source="Orphanet:209185"}
xref: Orphanet:209185 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209185"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209185

[Term]
id: MONDO:0016196
name: qualitative or quantitative defects of emerin
subset: ordo_group_of_disorders {source="Orphanet:209188"}
xref: Orphanet:209188 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209188"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209188

[Term]
id: MONDO:0016197
name: qualitative or quantitative defects of selenoprotein N1
subset: ordo_group_of_disorders {source="Orphanet:209193"}
xref: Orphanet:209193 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209193"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209193

[Term]
id: MONDO:0016198
name: qualitative or quantitative defects of plectin
subset: ordo_group_of_disorders {source="Orphanet:209196"}
xref: Orphanet:209196 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209196"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209196

[Term]
id: MONDO:0016199
name: qualitative or quantitative defects of protein SERCA1
subset: ordo_group_of_disorders {source="Orphanet:209199"}
xref: Orphanet:209199 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209199"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209199

[Term]
id: MONDO:0016200
name: qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
subset: ordo_group_of_disorders {source="Orphanet:209203"}
synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1, Orphanet:209203]
xref: Orphanet:209203 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209203"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209203

[Term]
id: MONDO:0016201
name: qualitative or quantitative defects of myotilin
subset: ordo_group_of_disorders {source="Orphanet:209224"}
xref: Orphanet:209224 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:209224"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:209224

[Term]
id: MONDO:0016202
name: autosomal dominant rhegmatogenous retinal detachment
def: "Autosomal dominant form of rhegmatogenous retinal detachment." [MONDO:patterns/autosomal_dominant]
subset: ordo_disease {source="Orphanet:209867"}
synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:H33.0 {source="Orphanet:209867", source="ORDO:209867/attributed", source="ORDO:209867/ntbt"}
xref: Orphanet:209867 {source="MONDO:equivalentTo"}
xref: UMLS:C1836081 {source="Orphanet:209867", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0005464 ! rhegmatogenous retinal detachment
is_a: MONDO:0012287 {source="MONDOLEX:0016202"} ! Stickler syndrome, type I, nonsyndromic ocular
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836081
property_value: exactMatch Orphanet:209867

[Term]
id: MONDO:0016203
name: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
subset: ordo_disease {source="Orphanet:209902"}
xref: ICD10:E78.0 {source="Orphanet:209902", source="ORDO:209902/attributed", source="ORDO:209902/ntbt"}
xref: Orphanet:209902 {source="MONDO:equivalentTo"}
is_a: MONDO:0005439 ! familial hypercholesterolemia
is_a: MONDO:0019218 {source="Orphanet:209902"} ! inborn disorder of bile acid synthesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0018799"} ! rare
property_value: exactMatch Orphanet:209902

[Term]
id: MONDO:0016204
name: idiopathic copper-associated cirrhosis
def: "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." [Orphanet:209919]
subset: ordo_disease {source="Orphanet:209919"}
synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919]
xref: ICD10:K74.6 {source="ORDO:209919/ntbt", source="Orphanet:209919"}
xref: Orphanet:209919 {source="MONDO:equivalentTo"}
xref: SCTID:715864007 {source="MONDO:kboom-pr-1.00/0.79/8.57", source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/715864007
property_value: exactMatch Orphanet:209919

[Term]
id: MONDO:0016205
name: IRVAN syndrome
subset: ordo_disease {source="Orphanet:209943"}
synonym: "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" EXACT [Orphanet:209943]
synonym: "idiopathic retinal-aneurysms-neuroretinitis syndrome" RELATED [GARD:0012868]
xref: GARD:0012868 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.0 {source="ORDO:209943/attributed", source="ORDO:209943/ntbt", source="Orphanet:209943"}
xref: Orphanet:209943 {source="MONDO:equivalentTo"}
xref: UMLS:C3665812 {source="MONDO:equivalentTo", source="Orphanet:209943", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015937 {source="Orphanet:209943"} ! rare inflammatory eye disease
is_a: MONDO:0020676 {source="Orphanet:209943"} ! disease of central nervous system or retinal vasculature
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665812
property_value: exactMatch Orphanet:209943

[Term]
id: MONDO:0016206
name: idiopathic uveal effusion syndrome
subset: ordo_disease {source="Orphanet:209956"}
xref: Orphanet:209956 {source="MONDO:equivalentTo"}
xref: UMLS:CN200962 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017255 {source="Orphanet:209956"} ! panuveitis (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200962
property_value: exactMatch Orphanet:209956

[Term]
id: MONDO:0016207
name: phacoanaphylactic uveitis
def: "intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." [https://medical-dictionary.thefreedictionary.com/phacoanaphylactic+uveitis]
subset: ordo_disease {source="Orphanet:209959"}
synonym: "endophthalmitis phacoanaphylactica" EXACT [Orphanet:209959]
synonym: "lens-induced endophthalmitis" EXACT [Orphanet:209959]
synonym: "lens-induced iridocyclitis" RELATED [Orphanet:209959]
synonym: "lens-induced uveitis" EXACT [Orphanet:209959]
synonym: "Phacoallergic endophthalmitis" EXACT [Orphanet:209959]
synonym: "Phacoantigenic endophthalmitis" EXACT [Orphanet:209959]
synonym: "Phako-anaphylactic endophthalmitis" EXACT [Orphanet:209959]
xref: ICD10:H20.2 {source="ORDO:209959/e", source="Orphanet:209959"}
xref: Orphanet:209959 {source="MONDO:equivalentTo"}
xref: SCTID:410494003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.83/1.21"}
xref: UMLS:C1444621 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0017634 {source="Orphanet:209959"} ! non-infectious anterior uveitis
property_value: exactMatch http://identifiers.org/snomedct/410494003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1444621
property_value: exactMatch Orphanet:209959

[Term]
id: MONDO:0016208
name: solitary rectal ulcer syndrome
def: "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." [Orphanet:209964]
subset: ordo_disease {source="Orphanet:209964"}
xref: ICD10:K62.6 {source="MONDO:relatedTo", source="ORDO:209964/ntbt", source="Orphanet:209964"}
xref: Orphanet:209964 {source="MONDO:equivalentTo"}
xref: SCTID:716685003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274343 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN200964 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:209964"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716685003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200964
property_value: exactMatch Orphanet:209964

[Term]
id: MONDO:0016209
name: benign familial nocturnal alternating hemiplegia of childhood
def: "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities." [Orphanet:209973]
subset: ordo_disease {source="Orphanet:209973"}
synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [Orphanet:209973]
synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [Orphanet:209973]
xref: Orphanet:209973 {source="MONDO:equivalentTo"}
xref: UMLS:CN226880 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016210 {source="Orphanet:209973"} ! alternating hemiplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226880
property_value: exactMatch Orphanet:209973

[Term]
id: MONDO:0016210
name: alternating hemiplegia
subset: ordo_group_of_disorders {source="Orphanet:209978"}
xref: Orphanet:209978 {source="MONDO:equivalentTo"}
xref: SCTID:404689008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019117 {source="Orphanet:209978"} ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/404689008
property_value: exactMatch Orphanet:209978

[Term]
id: MONDO:0016211
name: non-papillary transitional cell carcinoma of the bladder
subset: ordo_disease {source="Orphanet:209989"}
synonym: "non-papillary urothelial carcinoma" EXACT [Orphanet:209989]
xref: ICD10:C67.0 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.1 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.2 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.3 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.4 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.5 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.6 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.7 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.8 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: ICD10:C67.9 {source="Orphanet:209989", source="ORDO:209989/btnt"}
xref: Orphanet:209989 {source="MONDO:equivalentTo"}
xref: UMLS:CN200968 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0040679 ! urothelial carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0020032"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200968
property_value: exactMatch Orphanet:209989

[Term]
id: MONDO:0016212
name: cyclosporosis
def: "Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health." [Orphanet:210]
subset: ordo_disease {source="Orphanet:210"}
synonym: "Cyclospora cayetanensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyclospora cayetanensis disease or disorder" EXACT []
synonym: "Cyclospora cayetanensis infectious disease" EXACT []
synonym: "cyclosporosis" EXACT []
synonym: "infection of intestine caused by Cyclospora cayetanensis" RELATED []
synonym: "intestinal infection caused by Cyclospora cayetanensis" RELATED []
xref: ICD10:A07.3 {source="ORDO:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"}
xref: Orphanet:210 {source="MONDO:equivalentTo"}
xref: SCTID:716860005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4274225 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005725 {source="MONDO:Redundant", source="linkedlifedata"} ! cyclosporiasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716860005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274225
property_value: exactMatch Orphanet:210

[Term]
id: MONDO:0016213
name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
def: "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." [Orphanet:210133]
subset: ordo_disease {source="Orphanet:210133"}
xref: ICD10:Q82.8 {source="Orphanet:210133", source="ORDO:210133/attributed", source="ORDO:210133/ntbt"}
xref: Orphanet:210133 {source="MONDO:equivalentTo"}
xref: UMLS:CN226881 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019285 {source="Orphanet:210133"} ! syndromic nail anomaly
is_a: MONDO:0019289 {source="Orphanet:210133"} ! hyperpigmentation of the skin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226881
property_value: exactMatch Orphanet:210133

[Term]
id: MONDO:0016214
name: pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
def: "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." [Orphanet:210136]
subset: ordo_disease {source="Orphanet:210136"}
xref: Orphanet:210136 {source="MONDO:equivalentTo"}
xref: UMLS:CN200975 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017027 {source="Orphanet:210136"} ! primary interstitial lung disease specific to adulthood
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200975
property_value: exactMatch Orphanet:210136

[Term]
id: MONDO:0016215
name: spastic quadriplegia
def: "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." [NCIT:C116904]
subset: ordo_disease {source="Orphanet:210141"}
synonym: "inherited congenital spastic quadriplegia" EXACT [Orphanet:210141]
synonym: "inherited congenital spastic tetraplegia" RELATED [Orphanet:210141]
synonym: "quadriplegic infantile cerebral palsy" EXACT [DOID:10970, ICD9CM_2006:343.2]
synonym: "spastic quadriplegic cerebral palsy" EXACT [DOID:10970, Orphanet:210141]
synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970, MTHICD9_2006:343.2]
xref: DOID:10970 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="MONDO:relatedTo", source="ORDO:210141/attributed", source="ORDO:210141/ntbt", source="Orphanet:210141"}
xref: ICD9:343.2 {source="DOID:10970"}
xref: ICD9:344.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116904 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:603513 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:210141 {source="MONDO:equivalentTo", source="DOID:10970"}
xref: SCTID:192965001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.46/0.20"}
xref: UMLS:C0154697 {source="MONDO:equivalentTo", source="DOID:10970"}
is_a: MONDO:0000396 {source="DOID:10970"} ! spastic cerebral palsy
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:210141"} ! genetic nervous system disorder
property_value: closeMatch http://identifiers.org/snomedct/192953000
property_value: closeMatch http://identifiers.org/snomedct/275468009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0426970
property_value: exactMatch DOID:10970
property_value: exactMatch http://identifiers.org/snomedct/192965001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154697
property_value: exactMatch NCIT:C116904
property_value: exactMatch Orphanet:210141

[Term]
id: MONDO:0016216
name: adult hepatocellular carcinoma
def: "adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." [Orphanet:210159]
subset: ordo_clinical_subtype {source="Orphanet:210159"}
synonym: "adult HCC" EXACT [Orphanet:210159]
synonym: "adult hepatocellular carcinoma" EXACT [NCIT:C7956]
synonym: "adult hepatoma" EXACT [NCIT:C7956]
synonym: "adult primary carcinoma of liver cell" EXACT [NCIT:C7956]
synonym: "adult primary carcinoma of the liver cell" EXACT [NCIT:C7956]
synonym: "adult primary hepatocellular carcinoma" EXACT [NCIT:C7956]
synonym: "adult primary hepatoma" EXACT [NCIT:C7956]
synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956]
synonym: "hepatocellular cancer" EXACT [NCIT:C7956]
synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: ICD10:C22.0 {source="ORDO:210159/ntbt", source="Orphanet:210159"}
xref: NCIT:C7956 {source="kboom:pr0.79-conf5.41", source="MONDO:equivalentTo"}
xref: Orphanet:210159 {source="MONDO:equivalentTo"}
xref: UMLS:C0279607 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7956"}
xref: UMLS:CN200978 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007256 {source="MONDO:Redundant", source="NCIT:C7956", source="Orphanet:210159"} ! hepatocellular carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200978
property_value: exactMatch NCIT:C7956
property_value: exactMatch Orphanet:210159

[Term]
id: MONDO:0016217
name: mal de Debarquement
def: "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." [Orphanet:210272]
subset: ordo_clinical_syndrome {source="Orphanet:210272"}
synonym: "disembarkment syndrome" EXACT [Orphanet:210272]
synonym: "Mal de debarquement syndrome" RELATED [GARD:0006959]
synonym: "Mal de débarquement" RELATED [Orphanet:210272]
synonym: "MDD" EXACT [Orphanet:210272]
synonym: "MdDS" EXACT [Orphanet:210272]
synonym: "sickness of disembarkment" EXACT [Orphanet:210272]
xref: GARD:0006959 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H81.8 {source="ORDO:210272/ntbt", source="Orphanet:210272"}
xref: MedDRA:10064924 {source="ORDO:210272/e", source="Orphanet:210272"}
xref: Orphanet:210272 {source="MONDO:equivalentTo"}
xref: SCTID:446079007 {source="MONDO:equivalentTo"}
xref: UMLS:C1608983 {source="MONDO:equivalentTo", source="ORDO:210272/e", source="MEDGEN:kboom-pr87-c94", source="Orphanet:210272"}
is_a: MONDO:0024623 {source="Orphanet:210272"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10064924
property_value: exactMatch http://identifiers.org/mesh/C537840
property_value: exactMatch http://identifiers.org/snomedct/446079007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1608983
property_value: exactMatch Orphanet:210272

[Term]
id: MONDO:0016218
name: Guillain-Barre syndrome
def: "Guillain-BarrC) syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS; see these terms) and some other regional variants." [Orphanet:2103]
subset: ordo_group_of_disorders {source="Orphanet:2103"}
synonym: "acute autoimmune peripheral neuropathy" RELATED [GARD:0006554]
synonym: "acute immune-mediated polyneuropathy" RELATED [GARD:0006554]
synonym: "acute infective polyneuritis" EXACT [DOID:12842]
synonym: "acute inflammatory demyelinating polyneuropathy" RELATED [GARD:0006554]
synonym: "acute inflammatory neuropathy" RELATED [GARD:0006554]
synonym: "acute postinfectious polyneuropathy" EXACT [DOID:12842]
synonym: "GBS" EXACT [Orphanet:2103]
synonym: "Guillain Barre syndrome" EXACT [NCIT:C116345]
synonym: "Guillain Barré syndrome" EXACT [NCIT:C116345]
synonym: "Guillain-BarrC)-Strohl syndrome" EXACT [Orphanet:2103]
synonym: "Guillain-Barré syndrome" RELATED [Orphanet:2103]
synonym: "Guillain-Barré-Strohl syndrome" EXACT [Orphanet:2103]
synonym: "infectious neuronitis" EXACT [DOID:12842]
synonym: "Landry's ascending paralysis" RELATED [GARD:0006554]
synonym: "Landry-Guillain-Barre-Strohl syndrome" RELATED [GARD:0006554]
synonym: "post-infectious polyneuritis" EXACT [DOID:12842]
synonym: "post-infective polyneuritis" RELATED [GARD:0006554]
synonym: "Postinfectious polyneuritis" EXACT [DOID:12842]
xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"}
xref: EFO:0007292 {source="MONDO:equivalentTo"}
xref: GARD:0006554 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G61.0 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="MONDO:equivalentTo"}
xref: MedDRA:10018767 {source="ORDO:2103/e", source="Orphanet:2103"}
xref: MESH:D020275 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo"}
xref: NCIT:C116345 {source="DOID:12842", source="MONDO:equivalentTo"}
xref: Orphanet:2103 {source="MONDO:equivalentTo"}
xref: SCTID:40956001 {source="MONDO:equivalentTo"}
xref: UMLS:C0018378 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="MONDO:equivalentTo", source="NCIT:C116345", source="OMIM:139393"}
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0002254 {source="MONDOLEX:0016218", source="NCIT:C116345"} ! syndromic disease
is_a: MONDO:0015916 {source="Orphanet:2103"} ! rare neuroinflammatory or neuroimmunological disease
is_a: MONDO:0016137 {source="Orphanet:2103"} ! acute and subacute inflammatory demyelinating polyneuropathy
property_value: exactMatch DOID:12842
property_value: exactMatch http://identifiers.org/meddra/10018767
property_value: exactMatch http://identifiers.org/mesh/D020275
property_value: exactMatch http://identifiers.org/snomedct/40956001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018378
property_value: exactMatch NCIT:C116345
property_value: exactMatch Orphanet:2103

[Term]
id: MONDO:0016219
name: dysmorphism-pectus carinatum-joint laxity syndrome
def: "Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." [Orphanet:2104]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2104"}
synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:0000352]
synonym: "Guizar Vasquez Sanchez Manzano syndrome" RELATED [GARD:0000352]
synonym: "Guízar Vázquez-Sánchez-Manzano syndrome" EXACT [Orphanet:2104]
xref: GARD:0000352 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2104", source="ORDO:2104/attributed", source="ORDO:2104/ntbt"}
xref: Orphanet:2104 {source="GARD:0000352", source="MONDO:equivalentTo"}
xref: UMLS:CN237430 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0043008 {source="Orphanet:2104"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237430
property_value: exactMatch Orphanet:2104
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome xsd:anyURI {source="GARD:0000352"}

[Term]
id: MONDO:0016220
name: congenital temporomandibular joint ankylosis
def: "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." [Orphanet:210576]
subset: ordo_disease {source="Orphanet:210576"}
synonym: "congenital trismus" EXACT [Orphanet:210576]
xref: ICD10:K07.6 {source="Orphanet:210576", source="ORDO:210576/ntbt"}
xref: Orphanet:210576 {source="MONDO:equivalentTo"}
xref: SCTID:763215008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016221 {source="Orphanet:210576"} ! temporomandibular joint anomaly
property_value: exactMatch http://identifiers.org/snomedct/763215008
property_value: exactMatch Orphanet:210576

[Term]
id: MONDO:0016221
name: temporomandibular joint anomaly
subset: ordo_group_of_disorders {source="Orphanet:210581"}
xref: Orphanet:210581 {source="MONDO:equivalentTo"}
is_a: MONDO:0019038 {source="Orphanet:210581"} ! rare maxillo-facial surgical disease
property_value: exactMatch Orphanet:210581

[Term]
id: MONDO:0016222
name: spindle cell hemangioma
def: "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." [Orphanet:210584]
subset: ordo_disease {source="Orphanet:210584"}
synonym: "SCh" EXACT [DOID:496, NCIT:C4754]
synonym: "spindle -cell hemangioma" EXACT [NCIT:C4754]
synonym: "spindle cell hemangioendothelioma" EXACT [NCIT:C4754, Orphanet:210584]
synonym: "spindle cell hemangioma" EXACT [NCIT:C4754]
xref: DOID:496 {source="MONDO:equivalentTo"}
xref: EFO:0002856 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="Orphanet:210584", source="ORDO:210584/ntbt"}
xref: ICDO:9136/0 {source="NCIT:C4754"}
xref: ICDO:9136/1 {source="NCIT:C4754"}
xref: NCIT:C4754 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:496"}
xref: Orphanet:210584 {source="MONDO:equivalentTo"}
xref: SCTID:403967000 {source="MONDO:equivalentTo", source="DOID:496", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1304508 {source="ORDO:210584/e", source="Orphanet:210584", source="MONDO:equivalentTo", source="NCIT:C4754", source="DOID:496"}
is_a: MONDO:0006500 {source="DOID:496", source="NCIT:C4754"} ! hemangioma
is_a: MONDO:0020664 ! spindle cell neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/128769003
property_value: closeMatch http://identifiers.org/snomedct/134304005
property_value: exactMatch DOID:496
property_value: exactMatch http://identifiers.org/snomedct/403967000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304508
property_value: exactMatch NCIT:C4754
property_value: exactMatch Orphanet:210584

[Term]
id: MONDO:0016223
name: infantile hemangioma of rare localization
comment: Editor note: consider alternate naming
subset: ordo_group_of_disorders {source="Orphanet:210589"}
xref: Orphanet:210589 {source="MONDO:equivalentTo"}
xref: SCTID:703270004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3839613 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN226884 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="MONDO:cjm", source="linkedlifedata"} ! hemangioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/703270004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226884
property_value: exactMatch Orphanet:210589

[Term]
id: MONDO:0016224
name: autosomal dominant proximal spinal muscular atrophy
def: "Autosomal dominant form of proximal spinal muscular atrophy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:211037"}
synonym: "proximal spinal muscular atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G12.1 {source="Orphanet:211037", source="ORDO:211037/attributed", source="ORDO:211037/ntbt"}
xref: Orphanet:211037 {source="MONDO:equivalentTo"}
xref: UMLS:CN229044 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0019079 ! proximal spinal muscular atrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229044
property_value: exactMatch Orphanet:211037

[Term]
id: MONDO:0016225
name: specific learning disability
def: "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" [MESH:D000067559]
subset: ordo_group_of_disorders {source="Orphanet:211047"}
synonym: "specific learning difficulty" EXACT [Orphanet:211047]
synonym: "specific learning disorder" EXACT [Orphanet:211047]
xref: MESH:D000067559 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:211047 {source="MONDO:equivalentTo"}
xref: UMLS:CN226885 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005071 {source="Orphanet:211047"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D000067559
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226885
property_value: exactMatch Orphanet:211047

[Term]
id: MONDO:0016226
name: specific language disorder
subset: ordo_group_of_disorders {source="Orphanet:211053"}
synonym: "dysphasia" EXACT [Orphanet:211053]
xref: Orphanet:211053 {source="MONDO:equivalentTo"}
xref: UMLS:CN200992 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016225 {source="Orphanet:211053"} ! specific learning disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200992
property_value: exactMatch Orphanet:211053

[Term]
id: MONDO:0016227
name: hereditary episodic ataxia
def: "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." [Orphanet:211062]
subset: ordo_group_of_disorders {source="Orphanet:211062"}
synonym: "ea syndrome" RELATED [GARD:0009851]
synonym: "episodic ataxia" EXACT [MONDO:0006503]
synonym: "episodic ataxia syndrome" RELATED [GARD:0009851]
synonym: "Isaacs syndrome" RELATED [DOID:963]
xref: DOID:963 {source="MONDO:equivalentTo", source="EFO:1000638"}
xref: EFO:1000638 {source="MONDO:equivalentTo"}
xref: GARD:0009851 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="ORDO:211062/attributed", source="ORDO:211062/ntbt", source="Orphanet:211062"}
xref: OMIMPS:160120 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:211062 {source="DOID:963", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: SCTID:421455009 {source="DOID:963", source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C1720189 {source="DOID:963", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="DOID:963", source="Orphanet:211062"} ! hereditary ataxia
property_value: closeMatch http://identifiers.org/mesh/C580065
property_value: exactMatch DOID:963
property_value: exactMatch http://identifiers.org/snomedct/421455009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720189
property_value: exactMatch Orphanet:211062

[Term]
id: MONDO:0016228
name: obsolete rare vascular tumor
def: "Any of the forms of vascular neoplasm that have a rare incidence." [MONDO:patterns/rare]
comment: TODO revise after https://github.com/Orphanet/ORDO/issues/2
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:211237"}
synonym: "rare vascular neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:211237 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:211237
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024296
consider: UMLS:C0282607 {source="Orphanet:211237"}

[Term]
id: MONDO:0016229
name: genetic vascular anomaly
def: "An instance of vascular anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:211240"}
synonym: "genetic vascular anomaly" EXACT [MONDO:patterns/genetic]
xref: Orphanet:211240 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019063 ! vascular anomaly
is_a: MONDO:0021147 {source="Orphanet:211240"} ! disorder of development or morphogenesis
intersection_of: MONDO:0019063 ! vascular anomaly
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch Orphanet:211240

[Term]
id: MONDO:0016230
name: simple vascular malformation
subset: ordo_group_of_disorders {source="Orphanet:211243"}
xref: Orphanet:211243 {source="MONDO:equivalentTo"}
is_a: MONDO:0019063 {source="Orphanet:211243"} ! vascular anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158570
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961121
property_value: exactMatch Orphanet:211243

[Term]
id: MONDO:0016231
name: capillary malformation
subset: ordo_group_of_disorders {source="Orphanet:211247"}
synonym: "congenital malformation of capillary" NARROW []
synonym: "rare capillary malformation" RELATED [Orphanet:211247]
xref: Orphanet:211247 {source="MONDO:equivalentTo"}
xref: SCTID:234118009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016230 {source="Orphanet:211247"} ! simple vascular malformation
property_value: exactMatch http://identifiers.org/snomedct/234118009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340803
property_value: exactMatch Orphanet:211247

[Term]
id: MONDO:0016232
name: rare venous malformation
comment: Editor note: check this
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:211252"}
xref: ICD10:Q27.8 {source="ORDO:211252/ntbt", source="Orphanet:211252"}
xref: MedDRA:10025532 {source="Orphanet:211252", source="ORDO:211252/e"}
xref: Orphanet:211252 {source="MONDO:equivalentTo"}
is_a: MONDO:0016230 {source="Orphanet:211252"} ! simple vascular malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2937220
property_value: exactMatch http://identifiers.org/meddra/10025532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265950
property_value: exactMatch Orphanet:211252
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016233
name: rare lymphatic system malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:211255"}
xref: Orphanet:211255 {source="MONDO:equivalentTo"}
xref: UMLS:CN200997 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016230 {source="Orphanet:211255"} ! simple vascular malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200997
property_value: exactMatch Orphanet:211255
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016234
name: obsolete rare arteriovenous malformation
def: "Rare arteriovenous malformation." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:211266"}
synonym: "rare arteriovenous hemangioma/malformation" EXACT [MONDO:patterns/rare]
synonym: "rare arteriovenous malformation" EXACT [MONDO:patterns/rare]
xref: Orphanet:211266 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226888 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226888
property_value: exactMatch Orphanet:211266
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001256
consider: ICD10:Q27.3 {source="ORDO:211266/e", source="Orphanet:211266"}
consider: MedDRA:10003193 {source="ORDO:211266/e", source="Orphanet:211266"}
consider: MESH:D001165 {source="ORDO:211266/e", source="MONDO:relatedTo", source="Orphanet:211266"}
consider: UMLS:C0003857 {source="ORDO:211266/e", source="Orphanet:211266"}
consider: UMLS:C0334533 {source="ORDO:211266/e", source="MONDO:relatedTo", source="Orphanet:211266"}

[Term]
id: MONDO:0016235
name: complex vascular malformation with associated anomalies
subset: ordo_group_of_disorders {source="Orphanet:211277"}
synonym: "hemangiolymphangioma" EXACT [Orphanet:211277]
xref: Orphanet:211277 {source="MONDO:equivalentTo"}
is_a: MONDO:0019063 {source="Orphanet:211277"} ! vascular anomaly
property_value: exactMatch Orphanet:211277

[Term]
id: MONDO:0016236
name: kaposiform hemangioendothelioma
def: "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." [Orphanet:2122]
subset: gard_rare {source="GARD:0003077"}
subset: ordo_disease {source="Orphanet:2122"}
synonym: "congenital cutaneous multifocal kaposiform hemangioendothelioma" RELATED [GARD:0003077]
synonym: "Kaposiform hemangio-endothelioma" RELATED [GARD:0003077]
synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510]
synonym: "KH" RELATED [GARD:0003077]
synonym: "KHE" RELATED [GARD:0003077]
xref: GARD:0003077 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="Orphanet:2122", source="ORDO:2122/ntbt"}
xref: MESH:C537007 {source="Orphanet:2122", source="ORDO:2122/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27510 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:2122 {source="MONDO:equivalentTo"}
xref: SCTID:403983000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1367420 {source="Orphanet:2122", source="ORDO:2122/e", source="NCIT:C27510", source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="Orphanet:2122"} ! soft tissue neoplasm
is_a: MONDO:0021121 {source="MESH:C537007", source="NCIT:C27510", source="linkedlifedata"} ! hemangioendothelioma
disjoint_from: MONDO:0018736 ! kaposiform lymphangiomatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228", source="MONDO:0019099"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C537007
property_value: exactMatch http://identifiers.org/snomedct/403983000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367420
property_value: exactMatch NCIT:C27510
property_value: exactMatch Orphanet:2122
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma xsd:anyURI {source="GARD:0003077"}

[Term]
id: MONDO:0016237
name: diffuse neonatal hemangiomatosis
def: "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." [Orphanet:2123]
subset: gard_rare {source="GARD:0001861"}
subset: ordo_malformation_syndrome {source="Orphanet:2123"}
xref: GARD:0001861 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:2123", source="ORDO:2123/ntbt"}
xref: Orphanet:2123 {source="MONDO:equivalentTo"}
xref: SCTID:254782003 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo"}
xref: UMLS:C0474965 {source="GARD:0001861", source="MONDO:equivalentTo"}
is_a: MONDO:0024296 {source="Orphanet:2123"} ! vascular neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/254782003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474965
property_value: exactMatch Orphanet:2123
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis xsd:anyURI {source="GARD:0001861"}

[Term]
id: MONDO:0016238
name: solitary fibrous tumor
def: "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." [Orphanet:2126]
subset: ordo_disease {source="Orphanet:2126"}
synonym: "hemangiopericytoma" EXACT [NCIT:C7634]
synonym: "localized fibrous mesothelioma" EXACT [NCIT:C7634]
synonym: "localized fibrous tumor" EXACT [NCIT:C7634]
synonym: "SFT" EXACT [NCIT:C7634]
synonym: "solitary fibrous tumor" EXACT [NCIT:C7634]
synonym: "solitary fibrous tumor/hemangiopericytoma" RELATED [ONCOTREE:SFT]
synonym: "submesothelial fibroma" EXACT [NCIT:C7634]
xref: ICD10:D21.9 {source="Orphanet:2126", source="ORDO:2126/ntbt"}
xref: ICD9:238.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8815/0 {source="NCIT:C7634"}
xref: ICDO:8815/1 {source="NCIT:C7634"}
xref: ICDO:9051/0 {source="NCIT:C7634"}
xref: MedDRA:10018825 {source="Orphanet:2126", source="ORDO:2126/e"}
xref: MESH:D054364 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7634 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SFT {source="MONDO:equivalentTo"}
xref: Orphanet:2126 {source="MONDO:equivalentTo"}
xref: UMLS:C1266119 {source="Orphanet:2126", source="MONDO:equivalentTo", source="NCIT:C7634"}
is_a: MONDO:0006209 {source="NCIT:C7634"} ! fibroblastic neoplasm
property_value: exactMatch http://identifiers.org/meddra/10018825
property_value: exactMatch http://identifiers.org/mesh/D006393
property_value: exactMatch http://identifiers.org/mesh/D054364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266119
property_value: exactMatch NCIT:C7634
property_value: exactMatch Orphanet:2126

[Term]
id: MONDO:0016239
name: cystinosis
def: "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms)." [Orphanet:213]
subset: gard_rare {source="GARD:0006236"}
subset: ordo_disease {source="Orphanet:213"}
synonym: "cystine diathesis" RELATED [GARD:0006236]
synonym: "cystine disease" RELATED [GARD:0006236]
synonym: "cystine storage disease" EXACT [CSP2005:1849-0607, DOID:1064]
synonym: "Cystinoses" RELATED [GARD:0006236]
synonym: "Protein defect of cystin transport" EXACT [Orphanet:213]
xref: DOID:1064 {source="MONDO:equivalentTo"}
xref: GARD:0006236 {source="MONDO:equivalentTo"}
xref: ICD10:E72.0 {source="Orphanet:213", source="ORDO:213/inclusion", source="ORDO:213/ntbt"}
xref: ICD10:E72.04 {source="DOID:1064", source="MONDO:equivalentTo"}
xref: MedDRA:10011777 {source="Orphanet:213", source="ORDO:213/e"}
xref: MESH:D003554 {source="DOID:1064", source="Orphanet:213", source="MONDO:equivalentTo", source="ORDO:213/e"}
xref: NCIT:C2976 {source="DOID:1064", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:213 {source="DOID:1064", source="MONDO:equivalentTo", source="UMLS:CN035091"}
xref: SCTID:190681003 {source="DOID:1064", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.25"}
xref: UMLS:C0010690 {source="Orphanet:213", source="MONDO:equivalentTo", source="ORDO:213/e", source="NCIT:C2976"}
xref: UMLS:CN035091 {source="MONDO:equivalentTo"}
is_a: MONDO:0019246 {source="Orphanet:213"} ! inborn disorder of lysosomal amino acid transport
property_value: closeMatch http://identifiers.org/snomedct/111398009
property_value: closeMatch http://identifiers.org/snomedct/190683000
property_value: closeMatch http://identifiers.org/snomedct/367374009
property_value: closeMatch http://identifiers.org/snomedct/62332007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931187
property_value: exactMatch DOID:1064
property_value: exactMatch http://identifiers.org/meddra/10011777
property_value: exactMatch http://identifiers.org/mesh/D003554
property_value: exactMatch http://identifiers.org/snomedct/190681003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035091
property_value: exactMatch NCIT:C2976
property_value: exactMatch Orphanet:213
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6236/cystinosis xsd:anyURI {source="GARD:0006236"}

[Term]
id: MONDO:0016240
name: hemimelia
def: "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity." [Orphanet:2130]
subset: ordo_group_of_disorders {source="Orphanet:2130"}
synonym: "longitudinal meromelia" EXACT [Orphanet:2130]
xref: ICD10:Q71.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"}
xref: ICD10:Q72.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"}
xref: ICD10:Q73.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"}
xref: MedDRA:10019464 {source="ORDO:2130/e", source="Orphanet:2130"}
xref: NCIT:C34674 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:2130 {source="MONDO:equivalentTo"}
xref: SCTID:33076008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.07"}
xref: UMLS:C0018987 {source="MONDO:equivalentTo", source="NCIT:C34674", source="ORDO:2130/e", source="Orphanet:2130"}
is_a: MONDO:0019713 {source="Orphanet:2130", source="Orphanet:2130/inferred"} ! non-syndromic limb reduction defect
property_value: exactMatch http://identifiers.org/meddra/10019464
property_value: exactMatch http://identifiers.org/snomedct/33076008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018987
property_value: exactMatch NCIT:C34674
property_value: exactMatch Orphanet:2130

[Term]
id: MONDO:0016241
name: alternating hemiplegia of childhood
def: "Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." [Orphanet:2131]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2131"}
synonym: "adrenal hypoplasia congenita" EXACT [NCIT:C35261]
synonym: "AHC" EXACT [DOID:0050635, Orphanet:2131]
synonym: "alternating hemiplegia" RELATED [GARD:0000011]
synonym: "alternating hemiplegia of childhood" EXACT [MONDO:patterns/childhood]
synonym: "alternating hemiplegia syndrome" RELATED [GARD:0000011]
synonym: "childhood alternating hemiplegia" EXACT [MONDO:design_pattern]
synonym: "congenital adrenal gland hypoplasia" EXACT [NCIT:C35261]
synonym: "congenital adrenal Hypoplasia" EXACT [NCIT:C35261]
synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric alternating hemiplegia" RELATED [MONDO:patterns/childhood]
xref: DOID:0050635 {source="MONDO:equivalentTo"}
xref: GARD:0000011 {source="MONDO:equivalentTo"}
xref: ICD10:G98 {source="DOID:0050635", source="ORDO:2131/attributed", source="ORDO:2131/ntbt", source="Orphanet:2131"}
xref: MESH:C536589 {source="MONDO:equivalentTo", source="Orphanet:2131", source="ORDO:2131/e"}
xref: NCIT:C35261 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.26"}
xref: OMIMPS:104290 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2131 {source="GARD:0000011", source="MONDO:equivalentTo", source="DOID:0050635"}
xref: SCTID:230466004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0338488 {source="MONDO:equivalentTo", source="Orphanet:2131", source="ORDO:2131/e"}
is_a: MONDO:0001170 {source="DOID:0050635", source="MESH:C536589"} ! hemiplegia
is_a: MONDO:0016210 {source="MONDO:Redundant", source="Orphanet:2131", source="linkedlifedata"} ! alternating hemiplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220766
property_value: exactMatch DOID:0050635
property_value: exactMatch http://identifiers.org/mesh/C536589
property_value: exactMatch http://identifiers.org/snomedct/230466004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338488
property_value: exactMatch NCIT:C35261
property_value: exactMatch Orphanet:2131

[Term]
id: MONDO:0016242
name: hemoglobin C disease
def: "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." [Orphanet:2132]
subset: gard_rare {source="GARD:0002640"}
subset: ordo_disease {source="Orphanet:2132"}
synonym: "Hb C disease" RELATED [GARD:0002640]
synonym: "Hb-C disease" EXACT [DOID:2859, MTHICD9_2006:282.7]
xref: DOID:2859 {source="MONDO:equivalentTo"}
xref: GARD:0002640 {source="MONDO:equivalentTo"}
xref: ICD10:D58.2 {source="Orphanet:2132", source="DOID:2859", source="ORDO:2132/attributed", source="ORDO:2132/ntbt"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10018883 {source="Orphanet:2132", source="ORDO:2132/e"}
xref: MESH:C531699 {source="MONDO:equivalentTo"}
xref: MESH:D006445 {source="Orphanet:2132", source="MONDO:equivalentTo", source="DOID:2859", source="ORDO:2132/e"}
xref: NCIT:C34675 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2859"}
xref: Orphanet:2132 {source="MONDO:equivalentTo"}
xref: SCTID:51053007 {source="MONDO:equivalentTo", source="DOID:2859", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019021 {source="Orphanet:2132", source="MONDO:equivalentTo", source="NCIT:C34675", source="DOID:2859", source="ORDO:2132/e"}
is_a: MONDO:0002280 {source="Orphanet:2132", source="Orphanet:2132/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="DOID:2859", source="MESH:C531699/inferred", source="MESH:D006445", source="NCIT:C34675", source="Orphanet:2132", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch DOID:2859
property_value: exactMatch http://identifiers.org/meddra/10018883
property_value: exactMatch http://identifiers.org/mesh/C531699
property_value: exactMatch http://identifiers.org/mesh/D006445
property_value: exactMatch http://identifiers.org/snomedct/51053007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019021
property_value: exactMatch NCIT:C34675
property_value: exactMatch Orphanet:2132
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease xsd:anyURI {source="GARD:0002640"}

[Term]
id: MONDO:0016243
name: hemoglobin E disease
def: "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." [Orphanet:2133]
subset: gard_rare {source="GARD:0002641"}
subset: ordo_disease {source="Orphanet:2133"}
synonym: "Hb-E disease" EXACT [DOID:5379, MTHICD9_2006:282.7]
synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287]
xref: DOID:5379 {source="MONDO:equivalentTo"}
xref: GARD:0002641 {source="MONDO:equivalentTo"}
xref: ICD10:D58.2 {source="Orphanet:2133", source="DOID:5379", source="ORDO:2133/attributed", source="ORDO:2133/ntbt"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053215 {source="Orphanet:2133", source="ORDO:2133/e"}
xref: NCIT:C35287 {source="DOID:5379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:2133 {source="MONDO:equivalentTo"}
xref: SCTID:25065001 {source="DOID:5379", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238159 {source="Orphanet:2133", source="ORDO:2133/e", source="DOID:5379", source="NCIT:C35287", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:2133", source="Orphanet:2133/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="DOID:5379", source="NCIT:C35287", source="Orphanet:2133", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch DOID:5379
property_value: exactMatch http://identifiers.org/meddra/10053215
property_value: exactMatch http://identifiers.org/snomedct/25065001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238159
property_value: exactMatch NCIT:C35287
property_value: exactMatch Orphanet:2133
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease xsd:anyURI {source="GARD:0002641"}

[Term]
id: MONDO:0016244
name: atypical hemolytic-uremic syndrome
def: "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." [Orphanet:2134]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2134"}
synonym: "aHUS" EXACT [GARD:0008702, Orphanet:2134]
synonym: "atypical hemolytic uremic syndrome" EXACT [NCIT:C123223]
synonym: "atypical HUS" EXACT [GARD:0008702, Orphanet:2134]
synonym: "D-HUS" EXACT [Orphanet:2134]
synonym: "D-minus hemolytic uremic syndrome (D-HUS)" RELATED [GARD:0006240]
synonym: "hemolytic-uremic syndrome without diarrhea" EXACT [Orphanet:2134]
synonym: "HUS, atypical" RELATED [GARD:0008702]
synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223]
xref: DOID:0080301 {source="MONDO:equivalentTo"}
xref: GARD:0006240 {source="MONDO:equivalentTo"}
xref: GARD:0008702 {source="DOID:0080301", source="MONDO:equivalentTo"}
xref: ICD10:D58.8 {source="Orphanet:2134", source="ORDO:2134/attributed", source="ORDO:2134/ntbt"}
xref: MESH:D065766 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C123223 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.66/0.29/0.11"}
xref: Orphanet:2134 {source="GARD:0008702", source="DOID:0080301", source="MONDO:equivalentTo"}
xref: UMLS:C2931788 {source="ORDO:2134/e", source="GARD:0008702", source="Orphanet:2134", source="MONDO:equivalentTo", source="NCIT:C123223"}
is_a: MONDO:0001549 {source="MESH:D065766", source="MONDOLEX:0016244"} ! hemolytic-uremic syndrome
is_a: MONDO:0002254 {source="NCIT:C123223", source="indirect"} ! syndromic disease
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0003832 {source="DOID:0080301"} ! complement deficiency
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch DOID:0080301
property_value: exactMatch http://identifiers.org/mesh/C538266
property_value: exactMatch http://identifiers.org/mesh/D065766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931788
property_value: exactMatch NCIT:C123223
property_value: exactMatch Orphanet:2134

[Term]
id: MONDO:0016245
name: obsolete ovarian cancer
is_obsolete: true
replaced_by: MONDO:0008170

[Term]
id: MONDO:0016246
name: obsolete adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0002752

[Term]
id: MONDO:0016248
name: familial ovarian cancer
def: "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:213517"}
synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517]
synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary]
xref: ICD10:C56 {source="ORDO:213517/attributed", source="ORDO:213517/ntbt", source="Orphanet:213517"}
xref: Orphanet:213517 {source="MONDO:equivalentTo"}
xref: UMLS:CN201036 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0008170 ! ovarian cancer
intersection_of: MONDO:0008170 ! ovarian cancer
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015981 {source="MONDO:Entailed", source="Orphanet:213517"} ! obsolete inherited gynecological tumor
relationship: excluded_subClassOf MONDO:0018365 {source="Orphanet:213517"} ! malignant non-epithelial tumor of ovary
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201036
property_value: exactMatch Orphanet:213517

[Term]
id: MONDO:0016249
name: hereditary site-specific ovarian cancer syndrome
def: "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." [Orphanet:213524]
subset: ordo_disease {source="Orphanet:213524"}
xref: ICD10:C56 {source="Orphanet:213524", source="ORDO:213524/attributed", source="ORDO:213524/ntbt"}
xref: Orphanet:213524 {source="MONDO:equivalentTo"}
xref: UMLS:CN201037 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016248 {source="Orphanet:213524"} ! familial ovarian cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201037
property_value: exactMatch Orphanet:213524

[Term]
id: MONDO:0016250
name: obsolete rare adenocarcinoma of the breast
def: "Any of the forms of breast adenocarcinoma that have a rare incidence." [MONDO:patterns/rare]
subset: gard_rare {source="GARD:0012773"}
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:213528"}
synonym: "rare breast adenocarcinoma" EXACT [MONDO:patterns/rare]
xref: GARD:0012773 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:213528 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:213528
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast xsd:anyURI {source="GARD:0012773"}
is_obsolete: true
replaced_by: MONDO:0004988
consider: ICD10:C50.0 {source="ORDO:213528/btnt", source="Orphanet:213528"}
consider: ICD10:C50.1 {source="ORDO:213528/btnt", source="Orphanet:213528"}
consider: ICD10:C50.2 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"}
consider: ICD10:C50.3 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"}
consider: ICD10:C50.4 {source="ORDO:213528/btnt", source="Orphanet:213528"}
consider: ICD10:C50.5 {source="ORDO:213528/btnt", source="Orphanet:213528"}
consider: ICD10:C50.6 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"}
consider: ICD10:C50.8 {source="ORDO:213528/btnt", source="Orphanet:213528"}
consider: UMLS:C0858252 {source="Orphanet:213528"}

[Term]
id: MONDO:0016251
name: salivary gland type cancer of the breast
def: "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." [Orphanet:213557]
comment: Editor note: consider merging with mammary adenoid cystic carcinoma
subset: gard_rare {source="GARD:0012774"}
subset: ordo_disease {source="Orphanet:213557"}
synonym: "salivary gland type carcinoma of the breast" EXACT [Orphanet:213557]
xref: GARD:0012774 {source="MONDO:equivalentTo"}
xref: ICD10:C50.0 {source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.1 {source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.2 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.3 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.4 {source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.5 {source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.6 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: ICD10:C50.8 {source="Orphanet:213557", source="ORDO:213557/btnt"}
xref: Orphanet:213557 {source="MONDO:equivalentTo"}
xref: SCTID:716593008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0007254 {source="Orphanet:213557"} ! breast cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0015870"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716593008
property_value: exactMatch Orphanet:213557
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast xsd:anyURI {source="GARD:0012774"}

[Term]
id: MONDO:0016252
name: obsolete rare uterine cancer
def: "Rare uterine cancer." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:213564"}
synonym: "rare cancer of uterus" EXACT [Orphanet:213564]
synonym: "rare malignant tumor of uterus" EXACT [Orphanet:213564]
synonym: "rare uterine cancer" EXACT [MONDO:patterns/rare]
synonym: "rare uterine malignant tumor" EXACT [Orphanet:213564]
xref: Orphanet:213564 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:213564
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002715
consider: UMLS:C0153567 {source="Orphanet:213564"}

[Term]
id: MONDO:0016253
name: obsolete rare cancer of corpus uteri
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:213569"}
synonym: "rare malignant tumor of corpus uteri" EXACT [Orphanet:213569]
xref: Orphanet:213569 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:213569
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004992
consider: UMLS:C0153574 {source="Orphanet:213569"}

[Term]
id: MONDO:0016254
name: rare variants of adenocarcinoma of the corpus uteri
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:213574"}
xref: ICD10:C54.1 {source="Orphanet:213574", source="ORDO:213574/ntbt"}
xref: Orphanet:213574 {source="MONDO:equivalentTo"}
xref: UMLS:CN201043 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="Orphanet:213574"} ! cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201043
property_value: exactMatch Orphanet:213574
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016255
name: uterine corpus mixed epithelial and mesenchymal neoplasm
def: "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." [NCIT:C40181]
comment: Editor note: Consider placing Orphanet equiv with subclass (malignant form)
subset: ordo_group_of_disorders {source="Orphanet:213589"}
synonym: "body of uterus mixed neoplasm" EXACT [MONDO:patterns/location]
synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [Orphanet:213589]
synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orphanet:213589]
synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181]
synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181]
xref: ICD10:C54.0 {source="Orphanet:213589", source="ORDO:213589/btnt"}
xref: ICD10:C54.1 {source="Orphanet:213589", source="ORDO:213589/btnt"}
xref: ICD10:C54.2 {source="Orphanet:213589", source="ORDO:213589/btnt"}
xref: ICD10:C54.3 {source="Orphanet:213589", source="ORDO:213589/btnt"}
xref: ICD10:C54.8 {source="Orphanet:213589", source="ORDO:213589/btnt"}
xref: NCIT:C40181 {source="MONDO:equivalentTo"}
xref: Orphanet:213589 {source="MONDO:equivalentTo"}
xref: UMLS:C1519858 {source="NCIT:C40181", source="MONDO:equivalentTo"}
is_a: MONDO:0021043 {source="MONDO:Redundant", source="MONDOLEX:0016255", source="NCIT:C40181"} ! mixed neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="MONDOLEX:0016255", source="NCIT:C40181"} ! corpus uteri neoplasm
relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213589"} ! obsolete rare cancer of corpus uteri
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519858
property_value: exactMatch NCIT:C40181
property_value: exactMatch Orphanet:213589

[Term]
id: MONDO:0016256
name: Hennekam syndrome
def: "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." [Orphanet:2136]
subset: ordo_malformation_syndrome {source="Orphanet:2136"}
synonym: "Hennekam lymphangiectasia lymphedema syndrome" EXACT [GARD:0003318]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366]
synonym: "intestinal lymphagiectasia lymphedema intellectual deficit syndrome" RELATED [GARD:0003318]
synonym: "lymphangiectasies and lymphedema Hennekam type" RELATED [GARD:0003318]
synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [DOID:0060366]
synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [Orphanet:2136]
xref: DOID:0060366 {source="MONDO:equivalentTo"}
xref: GARD:0003318 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:2136", source="ORDO:2136/attributed", source="ORDO:2136/ntbt"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:235510 {source="MONDO:equivalentTo"}
xref: Orphanet:2136 {source="DOID:0060366", source="MONDO:equivalentTo"}
xref: SCTID:234146006 {source="DOID:0060366", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.43"}
xref: UMLS:C0340834 {source="MEDGEN:kboom-pr97-c98", source="ORDO:2136/e", source="DOID:0060366", source="Orphanet:2136", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2136", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2136"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018035 {source="Orphanet:2136"} ! syndrome with combined immunodeficiency
is_a: MONDO:0018722 {source="Orphanet:2136"} ! primary lymphedema with associated anomalies
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:2136"} ! syndromic lymphedema
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: closeMatch http://identifiers.org/mesh/C537255
property_value: exactMatch DOID:0060366
property_value: exactMatch http://identifiers.org/snomedct/234146006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340834
property_value: exactMatch Orphanet:2136

[Term]
id: MONDO:0016257
name: adenosarcoma of the corpus uteri
def: "Adenosarcoma of the corpus uteri is a rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported." [Orphanet:213600]
comment: TODO merge with MONDO:0002878
subset: ordo_disease {source="Orphanet:213600"}
xref: ICD10:C54.2 {source="Orphanet:213600", source="ORDO:213600/ntbt"}
xref: Orphanet:213600 {source="MONDO:equivalentTo"}
xref: UMLS:CN201046 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016255 {source="Orphanet:213600"} ! uterine corpus mixed epithelial and mesenchymal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201046
property_value: exactMatch Orphanet:213600

[Term]
id: MONDO:0016258
name: uterine corpus carcinofibroma
def: "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." [NCIT:C40182]
subset: ordo_disease {source="Orphanet:213605"}
synonym: "Carcinofibroma of the corpus uteri" RELATED [Orphanet:213605]
synonym: "uterine corpus Carcinofibroma" EXACT [NCIT:C40182]
xref: ICD10:C54.0 {source="ORDO:213605/btnt", source="Orphanet:213605"}
xref: ICD10:C54.1 {source="ORDO:213605/btnt", source="Orphanet:213605"}
xref: ICD10:C54.2 {source="ORDO:213605/btnt", source="Orphanet:213605"}
xref: ICD10:C54.3 {source="ORDO:213605/btnt", source="Orphanet:213605"}
xref: ICD10:C54.8 {source="ORDO:213605/btnt", source="Orphanet:213605"}
xref: ICDO:8934/3 {source="NCIT:C40182"}
xref: NCIT:C40182 {source="MONDO:equivalentTo"}
xref: Orphanet:213605 {source="MONDO:equivalentTo"}
xref: UMLS:C1883485 {source="NCIT:C40182", source="MONDO:equivalentTo"}
is_a: MONDO:0002879 {source="NCIT:C40182"} ! uterine body mixed cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1883485
property_value: exactMatch NCIT:C40182
property_value: exactMatch Orphanet:213605

[Term]
id: MONDO:0016259
name: carcinosarcoma of the corpus uteri
def: "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." [NCIT:C9180]
subset: ordo_disease {source="Orphanet:213610"}
synonym: "body of uterus carcinosarcoma" EXACT [MONDO:patterns/location]
synonym: "carcinosarcoma of corpus uteri" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the corpus uteri" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterine body" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterine corpus" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterus" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of uterine body" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of uterine corpus" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of uterus" EXACT [NCIT:C9180]
synonym: "corpus uteri malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of the uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of the uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of the uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed Mullerian tumor of the corpus uteri" EXACT [Orphanet:213610]
synonym: "malignant mixed müllerian tumor of corpus uteri" RELATED [GARD:0012335]
synonym: "malignant mixed Müllerian tumor of the corpus uteri" EXACT [Orphanet:213610]
synonym: "mixed Mullerian cancer of corpus uteri" EXACT [Orphanet:213610]
synonym: "mixed Mullerian sarcoma of the uterus" EXACT [NCIT:C9180]
synonym: "mixed Mullerian sarcoma of uterus" EXACT [NCIT:C9180]
synonym: "mixed Müllerian cancer of corpus uteri" EXACT [Orphanet:213610]
synonym: "mixed Müllerian sarcoma of the uterus" EXACT [NCIT:C9180]
synonym: "mixed Müllerian sarcoma of uterus" EXACT [NCIT:C9180]
synonym: "uterine body carcinosarcoma" EXACT [NCIT:C9180]
synonym: "uterine body malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine body malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine carcinosarcoma" EXACT [NCIT:C9180, Orphanet:213610]
synonym: "uterine corpus carcinosarcoma" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Mullerian neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Mullerian tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Müllerian neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Müllerian tumor" EXACT [NCIT:C9180]
synonym: "uterine malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180]
synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180]
xref: GARD:0012335 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C54.9 {source="Orphanet:213610", source="ORDO:213610/ntbt"}
xref: NCIT:C9180 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.79/1.35"}
xref: Orphanet:213610 {source="MONDO:equivalentTo"}
is_a: MONDO:0002879 {source="MONDO:Redundant", source="NCIT:C9180"} ! uterine body mixed cancer
is_a: MONDO:0006485 {source="MONDO:Redundant", source="MONDOLEX:0016259", source="NCIT:C9180"} ! uterine carcinosarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704376
property_value: exactMatch NCIT:C9180
property_value: exactMatch Orphanet:213610

[Term]
id: MONDO:0016260
name: uterine corpus rhabdomyosarcoma
def: "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." [NCIT:C127058]
subset: ordo_disease {source="Orphanet:213615"}
synonym: "body of uterus rhabdomyosarcoma" EXACT []
synonym: "body of uterus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of body of uterus" EXACT []
synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [Orphanet:213615]
synonym: "uterine corpus rhabdomyosarcoma" EXACT [NCIT:C127058]
xref: ICD10:C54.2 {source="ORDO:213615/ntbt", source="Orphanet:213615"}
xref: NCIT:C127058 {source="MONDO:equivalentTo"}
xref: Orphanet:213615 {source="MONDO:equivalentTo"}
xref: UMLS:C4288047 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004526 ! mixed endometrial stromal and smooth muscle tumor
is_a: MONDO:0005210 {source="MONDO:Redundant", source="MONDOLEX:0016260", source="NCIT:C127058", source="Orphanet:213615"} ! uterine corpus sarcoma
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C127058"} ! rhabdomyosarcoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288047
property_value: exactMatch NCIT:C127058
property_value: exactMatch Orphanet:213615

[Term]
id: MONDO:0016261
name: obsolete sarcoma of the corpus uteri
is_obsolete: true
replaced_by: MONDO:0005210

[Term]
id: MONDO:0016262
name: leiomyosarcoma of the corpus uteri
def: "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6340]
subset: ordo_disease {source="Orphanet:213625"}
synonym: "body of uterus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6340]
synonym: "corpus uteri leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma - uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of body of uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of corpus uteri" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the body of uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the corpus uteri" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterine body" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterine corpus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterine body" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterine corpus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterus" EXACT [NCIT:C6340]
synonym: "uterine body leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS]
synonym: "uterus leiomyosarcoma" RELATED [DOID:5289]
xref: DOID:5289 {source="MONDO:equivalentTo"}
xref: ICD10:C54.2 {source="ORDO:213625/ntbt", source="Orphanet:213625"}
xref: NCIT:C6340 {source="DOID:5289", source="DesignPattern", source="kboom:pr0.84-conf11.09", source="MONDO:equivalentTo"}
xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"}
xref: Orphanet:213625 {source="MONDO:equivalentTo"}
xref: SCTID:447389009 {source="DOID:5289", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C0280631 {source="DOID:5289", source="NCIT:C6340", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:213625"}
is_a: MONDO:0004526 ! mixed endometrial stromal and smooth muscle tumor
is_a: MONDO:0005058 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340/inferred", source="linkedlifedata"} ! leiomyosarcoma
is_a: MONDO:0005210 {source="DOID:5289", source="MONDO:Redundant", source="MONDOLEX:0016262", source="NCIT:C6340", source="ONCOTREE:ULMS/inferred", source="Orphanet:213625", source="linkedlifedata"} ! uterine corpus sarcoma
property_value: exactMatch DOID:5289
property_value: exactMatch http://identifiers.org/snomedct/447389009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280631
property_value: exactMatch NCIT:C6340
property_value: exactMatch Orphanet:213625

[Term]
id: MONDO:0016263
name: primitive neuroectodermal tumor of the corpus uteri
def: "A primitive neuroectodermal tumor that involves the body of uterus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213630"}
synonym: "body of uterus primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "malignant peripheral neuroectodermal tumor of the corpus uteri" EXACT [Orphanet:213630]
synonym: "peripheral neuroectodermal cancer of the corpus uteri" EXACT [Orphanet:213630]
synonym: "primitive neuroectodermal tumor of body of uterus" EXACT []
xref: ICD10:C54.0 {source="Orphanet:213630", source="ORDO:213630/btnt"}
xref: ICD10:C54.1 {source="Orphanet:213630", source="ORDO:213630/btnt"}
xref: ICD10:C54.2 {source="Orphanet:213630", source="ORDO:213630/btnt"}
xref: ICD10:C54.3 {source="Orphanet:213630", source="ORDO:213630/btnt"}
xref: ICD10:C54.8 {source="Orphanet:213630", source="ORDO:213630/btnt"}
xref: Orphanet:213630 {source="MONDO:equivalentTo"}
xref: UMLS:CN201052 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005462 ! primitive neuroectodermal tumor
is_a: MONDO:0021254 ! corpus uteri neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201052
property_value: exactMatch Orphanet:213630

[Term]
id: MONDO:0016264
name: autoimmune hepatitis
def: "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." [NCIT:C27029]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2137"}
synonym: "AIH" RELATED [GARD:0005871]
synonym: "autoimmune chronic active hepatitis" EXACT [DOID:2048, https://emedicine.medscape.com/article/172356-overview#a3]
synonym: "autoimmune chronic hepatitis" RELATED [GARD:0005871]
synonym: "autoimmune hepatitis" EXACT [DOID:2048, NCIT:C27029]
synonym: "autoimmune hepatitis with centrilobular necrosis" EXACT [DOID:2048]
synonym: "autoimmune liver disease" BROAD [https://emedicine.medscape.com/article/172356-overview#a3]
synonym: "chronic autoimmune hepatitis" EXACT [Orphanet:2137]
xref: COHD:200762 {source="MONDO:equivalentTo"}
xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"}
xref: EFO:0005676 {source="MONDO:equivalentTo"}
xref: GARD:0005871 {source="MONDO:equivalentTo"}
xref: ICD10:K75.4 {source="DOID:2048", source="Orphanet:2137", source="ORDO:2137/e", source="MONDO:equivalentTo"}
xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10003827 {source="Orphanet:2137", source="ORDO:2137/e"}
xref: MESH:D019693 {source="DOID:2048", source="MONDO:equivalentTo"}
xref: NCIT:C27029 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"}
xref: Orphanet:2137 {source="MONDO:equivalentTo"}
xref: SCTID:408335007 {source="MONDO:kboom-pr-0.90/0.76/0.50", source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"}
xref: UMLS:C0241910 {source="DOID:2048", source="Orphanet:2137", source="ORDO:2137/e", source="MONDO:equivalentTo", source="NCIT:C27029", source="GARD:0005871"}
xref: UMLS:C1332355 {source="DOID:2048", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0000586 ! autoimmune disease of exocrine system
is_a: MONDO:0000588 {source="DOID:2048", source="MONDO:Entailed"} ! autoimmune disease of gastrointestinal tract
is_a: MONDO:0002251 {source="MESH:D019693/inferred", source="MONDO:Redundant", source="NCIT:C27029"} ! hepatitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/68784009
property_value: closeMatch NCIT:C27778
property_value: exactMatch DOID:2048
property_value: exactMatch http://identifiers.org/meddra/10003827
property_value: exactMatch http://identifiers.org/mesh/D019693
property_value: exactMatch http://identifiers.org/snomedct/408335007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241910
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332355
property_value: exactMatch NCIT:C27029
property_value: exactMatch Orphanet:2137

[Term]
id: MONDO:0016265
name: obsolete endometrial stromal sarcoma
is_obsolete: true
replaced_by: MONDO:0006745

[Term]
id: MONDO:0016266
name: squamous cell carcinoma of the corpus uteri
def: "A squamous cell carcinoma that involves the body of uterus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213716"}
synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial squamous cell carcinoma" EXACT [Orphanet:213716]
xref: ICD10:C50 {source="MONDO:relatedTo", source="ORDO:213716/ntbt", source="Orphanet:213716"}
xref: Orphanet:213716 {source="MONDO:equivalentTo"}
is_a: MONDO:0005096 ! squamous cell carcinoma
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0006003 ! uterine corpus cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch Orphanet:213716

[Term]
id: MONDO:0016267
name: undifferentiated carcinoma of the corpus uteri
def: "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." [Orphanet:213721]
subset: ordo_disease {source="Orphanet:213721"}
synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial undifferentiated carcinoma" EXACT [Orphanet:213721]
xref: ICD10:C50 {source="MONDO:relatedTo", source="Orphanet:213721", source="ORDO:213721/ntbt"}
xref: Orphanet:213721 {source="MONDO:equivalentTo"}
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0005617 ! undifferentiated carcinoma
is_a: MONDO:0006003 ! uterine corpus cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch Orphanet:213721

[Term]
id: MONDO:0016268
name: papillary carcinoma of the corpus uteri
def: "A papillary carcinoma that involves the body of uterus." [MONDO:patterns/location]
comment: Editor note: check relationship to MONDO:0006196
subset: ordo_disease {source="Orphanet:213726"}
synonym: "body of uterus papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial capillary carcinoma" EXACT [Orphanet:213726]
xref: ICD10:C54.1 {source="ORDO:213726/ntbt", source="Orphanet:213726"}
xref: Orphanet:213726 {source="MONDO:equivalentTo"}
xref: UMLS:CN201057 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0006003 ! uterine corpus cancer
is_a: MONDO:0006509 ! papillary carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201057
property_value: exactMatch Orphanet:213726

[Term]
id: MONDO:0016269
name: high-grade neuroendocrine carcinoma of the corpus uteri
def: "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." [Orphanet:213731]
subset: ordo_disease {source="Orphanet:213731"}
synonym: "high-grade neuroendocrine carcinoma of the uterine corpus" EXACT [Orphanet:213731]
synonym: "poorly differentiated neuroendocrine carcinoma of the corpus uteri" EXACT [Orphanet:213731]
synonym: "poorly differentiated neuroendocrine carcinoma of the endometrium" EXACT [Orphanet:213731]
xref: ICD10:C54.0 {source="Orphanet:213731", source="ORDO:213731/btnt"}
xref: ICD10:C54.1 {source="Orphanet:213731", source="ORDO:213731/btnt"}
xref: ICD10:C54.2 {source="Orphanet:213731", source="ORDO:213731/btnt"}
xref: ICD10:C54.3 {source="Orphanet:213731", source="ORDO:213731/btnt"}
xref: ICD10:C54.8 {source="Orphanet:213731", source="ORDO:213731/btnt"}
xref: Orphanet:213731 {source="MONDO:equivalentTo"}
xref: UMLS:CN201058 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006003 ! uterine corpus cancer
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021650 {source="MONDO:cjm"} ! uterine corpus neuroendocrine neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201058
property_value: exactMatch Orphanet:213731

[Term]
id: MONDO:0016270
name: low-grade neuroendocrine tumor of the corpus uteri
def: "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." [Orphanet:213736]
subset: ordo_disease {source="Orphanet:213736"}
synonym: "low-grade neuroendocrine tumor of the uterine corpus" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine neoplasm of the endometrium" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine tumor of the corpus uteri" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine tumor of the endometrium" EXACT [Orphanet:213736]
xref: ICD10:C54.0 {source="ORDO:213736/btnt", source="Orphanet:213736"}
xref: ICD10:C54.1 {source="ORDO:213736/btnt", source="Orphanet:213736"}
xref: ICD10:C54.2 {source="ORDO:213736/btnt", source="Orphanet:213736"}
xref: ICD10:C54.3 {source="ORDO:213736/btnt", source="Orphanet:213736"}
xref: ICD10:C54.8 {source="ORDO:213736/btnt", source="Orphanet:213736"}
xref: Orphanet:213736 {source="MONDO:equivalentTo"}
xref: UMLS:CN201059 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006003 ! uterine corpus cancer
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021650 {source="MONDO:cjm"} ! uterine corpus neuroendocrine neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201059
property_value: exactMatch Orphanet:213736

[Term]
id: MONDO:0016271
name: adenoid cystic carcinoma of the corpus uteri
def: "A adenoid cystic carcinoma that involves the body of uterus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213741"}
synonym: "body of uterus adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial adenoid cystic carcinoma" EXACT [Orphanet:213741]
xref: ICD10:C54.0 {source="Orphanet:213741", source="ORDO:213741/btnt"}
xref: ICD10:C54.1 {source="Orphanet:213741", source="ORDO:213741/btnt"}
xref: ICD10:C54.2 {source="Orphanet:213741", source="ORDO:213741/btnt"}
xref: ICD10:C54.3 {source="Orphanet:213741", source="ORDO:213741/btnt"}
xref: ICD10:C54.8 {source="Orphanet:213741", source="ORDO:213741/btnt"}
xref: Orphanet:213741 {source="MONDO:equivalentTo"}
is_a: MONDO:0004971 ! adenoid cystic carcinoma
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0006003 ! uterine corpus cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch Orphanet:213741

[Term]
id: MONDO:0016272
name: transitional cell carcinoma of the corpus uteri
def: "A transitional cell carcinoma that involves the body of uterus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213746"}
synonym: "body of uterus transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial transitional cell carcinoma" EXACT [Orphanet:213746]
xref: ICD10:C54.1 {source="ORDO:213746/ntbt", source="Orphanet:213746"}
xref: Orphanet:213746 {source="MONDO:equivalentTo"}
is_a: MONDO:0005213 ! uterine carcinoma
is_a: MONDO:0006003 ! uterine corpus cancer
is_a: MONDO:0006474 ! transitional cell carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch Orphanet:213746

[Term]
id: MONDO:0016273
name: malignant germ cell tumor of corpus uteri
def: "A malignant germ cell tumor that involves the body of uterus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213751"}
synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751]
synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751]
synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751]
xref: ICD10:C54.0 {source="Orphanet:213751", source="ORDO:213751/btnt"}
xref: ICD10:C54.1 {source="Orphanet:213751", source="ORDO:213751/btnt"}
xref: ICD10:C54.2 {source="Orphanet:213751", source="ORDO:213751/btnt"}
xref: ICD10:C54.3 {source="Orphanet:213751", source="ORDO:213751/btnt"}
xref: ICD10:C54.8 {source="Orphanet:213751", source="ORDO:213751/btnt"}
xref: Orphanet:213751 {source="MONDO:equivalentTo"}
xref: UMLS:CN201062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006003 ! uterine corpus cancer
is_a: MONDO:0006290 ! malignant germ cell tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201062
property_value: exactMatch Orphanet:213751

[Term]
id: MONDO:0016274
name: obsolete rare cancer of cervix uteri
def: "Rare cervical cancer." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:213761"}
synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare, Orphanet:213761]
synonym: "rare cervical malignant tumor" EXACT [Orphanet:213761]
synonym: "rare malignant tumor of cervix uteri" EXACT [Orphanet:213761]
xref: Orphanet:213761 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN201063 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201063
property_value: exactMatch Orphanet:213761
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002974
consider: UMLS:C0007847 {source="Orphanet:213761"}
consider: UMLS:C0302592 {source="Orphanet:213761", source="MONDO:directSiblingOf"}

[Term]
id: MONDO:0016275
name: adenocarcinoma of cervix uteri
def: "A adenocarcinoma that involves the uterine cervix." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213772"}
synonym: "cervical adenocarcinoma" EXACT [Orphanet:213772]
synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="ORDO:213772/btnt"}
xref: ICD10:C53.1 {source="Orphanet:213772", source="ORDO:213772/btnt"}
xref: ICD10:C53.8 {source="Orphanet:213772", source="ORDO:213772/btnt"}
xref: Orphanet:213772 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 ! adenocarcinoma
is_a: MONDO:0005131 ! cervical carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279672
property_value: exactMatch Orphanet:213772

[Term]
id: MONDO:0016276
name: high-grade neuroendocrine carcinoma of the cervix uteri
def: "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." [Orphanet:213777]
subset: ordo_disease {source="Orphanet:213777"}
synonym: "high-grade neuroendocrine carcinoma of the uterine cervix" EXACT [Orphanet:213777]
synonym: "poorly differentiated neuroendocrine carcinoma of the cervix uteri" EXACT [Orphanet:213777]
synonym: "poorly differentiated neuroendocrine cervical carcinoma" EXACT [Orphanet:213777]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="Orphanet:213777", source="ORDO:213777/btnt"}
xref: ICD10:C53.1 {source="Orphanet:213777", source="ORDO:213777/btnt"}
xref: ICD10:C53.8 {source="Orphanet:213777", source="ORDO:213777/btnt"}
xref: Orphanet:213777 {source="MONDO:equivalentTo"}
xref: UMLS:CN201066 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="Orphanet:213777"} ! cervical cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201066
property_value: exactMatch Orphanet:213777

[Term]
id: MONDO:0016277
name: malignant mixed epithelial and mesenchymal tumor of cervix uteri
subset: ordo_group_of_disorders {source="Orphanet:213782"}
synonym: "cervical malignant mixed epithelial and mesenchymal tumor" EXACT [Orphanet:213782]
synonym: "mixed epithelial and mesenchymal cancer of cervix uteri" EXACT [Orphanet:213782]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213782/btnt", source="Orphanet:213782"}
xref: ICD10:C53.1 {source="ORDO:213782/btnt", source="Orphanet:213782"}
xref: ICD10:C53.8 {source="ORDO:213782/btnt", source="Orphanet:213782"}
xref: Orphanet:213782 {source="MONDO:equivalentTo"}
xref: UMLS:CN201067 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="Orphanet:213782"} ! cervical cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201067
property_value: exactMatch Orphanet:213782

[Term]
id: MONDO:0016278
name: obsolete carcinosarcoma of the cervix uteri
def: "Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." [Orphanet:213787]
synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0002877

[Term]
id: MONDO:0016279
name: obsolete adenosarcoma of the cervix uteri
def: "Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." [Orphanet:213792]
synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0002876

[Term]
id: MONDO:0016280
name: sarcoma of cervix uteri
def: "A sarcoma involving a uterine cervix." [MONDO:patterns/sarcoma]
subset: ordo_group_of_disorders {source="Orphanet:213797"}
synonym: "cervical malignant mesenchymal tumor" EXACT [Orphanet:213797]
synonym: "cervical sarcoma" EXACT [Orphanet:213797]
synonym: "malignant mesenchymal tumor of cervix uteri" EXACT [Orphanet:213797]
synonym: "sarcoma of uterine cervix" EXACT [MONDO:patterns/sarcoma]
synonym: "uterine cervix sarcoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="ORDO:213797/btnt"}
xref: ICD10:C53.1 {source="Orphanet:213797", source="ORDO:213797/btnt"}
xref: ICD10:C53.8 {source="Orphanet:213797", source="ORDO:213797/btnt"}
xref: Orphanet:213797 {source="MONDO:equivalentTo"}
xref: UMLS:CN201070 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="Orphanet:213797"} ! cervical cancer
is_a: MONDO:0005089 ! sarcoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201070
property_value: exactMatch Orphanet:213797

[Term]
id: MONDO:0016281
name: 46,XX ovotesticular disorder of sex development
def: "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." [Orphanet:2138]
subset: ordo_malformation_syndrome {source="Orphanet:2138"}
synonym: "46,XX ovotesticular DSD" EXACT [Orphanet:2138]
synonym: "ovotesticular differences of Sex development" EXACT [NCIT:C127167]
synonym: "ovotesticular disorders of Sex development" EXACT [NCIT:C127167]
synonym: "ovotesticular DSD" EXACT [NCIT:C127167]
synonym: "true hermaphroditism" EXACT [Orphanet:2138]
xref: ICD10:Q56.0 {source="ORDO:2138/attributed", source="ORDO:2138/ntbt", source="Orphanet:2138"}
xref: MESH:D050090 {source="ORDO:2138/e", source="MONDO:equivalentTo", source="Orphanet:2138", source="MONDO:ontobio"}
xref: NCIT:C127167 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.33"}
xref: Orphanet:2138 {source="MONDO:equivalentTo"}
xref: SCTID:18978002 {source="MONDO:kboom-pr-1.00/0.79/7.89", source="MONDO:equivalentTo"}
xref: UMLS:C2748895 {source="ORDO:2138/e", source="NCIT:C127167", source="MONDO:equivalentTo", source="Orphanet:2138"}
xref: UMLS:CN776920 {source="MONDO:equivalentTo"}
is_a: MONDO:0017961 {source="Orphanet:2138"} ! 46,XX disorder of gonadal development
is_a: MONDO:0018402 {source="Orphanet:2138"} ! female infertility due to gonadal dysgenesis
is_a: MONDO:0020038 {source="Orphanet:2138"} ! gonadal dysgenesis of gynecological interest
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266361
property_value: exactMatch http://identifiers.org/mesh/D050090
property_value: exactMatch http://identifiers.org/snomedct/18978002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776920
property_value: exactMatch NCIT:C127167
property_value: exactMatch Orphanet:2138

[Term]
id: MONDO:0016282
name: rhabdomyosarcoma of the cervix uteri
def: "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." [NCIT:P378]
subset: ordo_disease {source="Orphanet:213802"}
synonym: "CERMS" RELATED [ONCOTREE:CERMS]
synonym: "cervical rhabdomyosarcoma" EXACT [NCIT:C128048, Orphanet:213802]
synonym: "rhabdomyosarcoma (disease) of uterine cervix" EXACT []
synonym: "uterine cervix rhabdomyosarcoma" EXACT []
synonym: "uterine cervix rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213802/btnt", source="Orphanet:213802"}
xref: ICD10:C53.1 {source="ORDO:213802/btnt", source="Orphanet:213802"}
xref: ICD10:C53.8 {source="ORDO:213802/btnt", source="Orphanet:213802"}
xref: NCIT:C128048 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CERMS {source="MONDO:equivalentTo"}
xref: Orphanet:213802 {source="MONDO:equivalentTo"}
xref: SCTID:763408003 {source="MONDO:equivalentTo"}
xref: UMLS:C4289809 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201072 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C128048", source="OWLReasoner:2017"} ! rhabdomyosarcoma (disease)
is_a: MONDO:0016280 {source="MONDO:Redundant", source="Orphanet:213802"} ! sarcoma of cervix uteri
property_value: exactMatch http://identifiers.org/snomedct/763408003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289809
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201072
property_value: exactMatch NCIT:C128048
property_value: exactMatch Orphanet:213802

[Term]
id: MONDO:0016283
name: leiomyosarcoma of the cervix uteri
def: "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." [Orphanet:213807]
subset: ordo_disease {source="Orphanet:213807"}
synonym: "CELI" RELATED [ONCOTREE:CELI]
synonym: "cervical leiomyosarcoma" EXACT [NCIT:C128047, Orphanet:213807]
synonym: "leiomyosarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="Orphanet:213807", source="ORDO:213807/btnt"}
xref: ICD10:C53.1 {source="Orphanet:213807", source="ORDO:213807/btnt"}
xref: ICD10:C53.8 {source="Orphanet:213807", source="ORDO:213807/btnt"}
xref: NCIT:C128047 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CELI {source="MONDO:equivalentTo"}
xref: Orphanet:213807 {source="MONDO:equivalentTo"}
xref: SCTID:763771009 {source="MONDO:equivalentTo"}
xref: UMLS:C4289817 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201073 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C128047/inferred"} ! leiomyosarcoma
is_a: MONDO:0016280 {source="MONDO:Redundant", source="Orphanet:213807"} ! sarcoma of cervix uteri
property_value: exactMatch http://identifiers.org/snomedct/763771009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289817
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201073
property_value: exactMatch NCIT:C128047
property_value: exactMatch Orphanet:213807

[Term]
id: MONDO:0016284
name: primitive neuroectodermal tumor of the cervix uteri
def: "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." [Orphanet:213812]
subset: ordo_disease {source="Orphanet:213812"}
synonym: "cervical malignant peripheral neuroectodermal tumor" EXACT [Orphanet:213812]
synonym: "cervical peripheral neuroectodermal cancer" EXACT [Orphanet:213812]
synonym: "malignant peripheral neuroectodermal tumor of the cervix uteri" EXACT [Orphanet:213812]
synonym: "peripheral neuroectodermal cancer of cervix uteri" EXACT [Orphanet:213812]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213812/btnt", source="Orphanet:213812"}
xref: ICD10:C53.1 {source="ORDO:213812/btnt", source="Orphanet:213812"}
xref: ICD10:C53.8 {source="ORDO:213812/btnt", source="Orphanet:213812"}
xref: Orphanet:213812 {source="MONDO:equivalentTo"}
xref: UMLS:CN201074 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016280 {source="Orphanet:213812"} ! sarcoma of cervix uteri
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201074
property_value: exactMatch Orphanet:213812

[Term]
id: MONDO:0016285
name: papillary carcinoma of the cervix uteri
def: "A papillary carcinoma that involves the uterine cervix." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213817"}
synonym: "cervical papillary carcinoma" EXACT [Orphanet:213817]
synonym: "uterine cervix papillary carcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="ORDO:213817/btnt", source="MONDO:relatedTo", source="Orphanet:213817"}
xref: ICD10:C53.1 {source="ORDO:213817/btnt", source="Orphanet:213817"}
xref: ICD10:C53.8 {source="ORDO:213817/btnt", source="Orphanet:213817"}
xref: Orphanet:213817 {source="MONDO:equivalentTo"}
xref: UMLS:CN201075 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005131 ! cervical carcinoma
is_a: MONDO:0006509 ! papillary carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201075
property_value: exactMatch Orphanet:213817

[Term]
id: MONDO:0016286
name: adenoid cystic carcinoma of the cervix uteri
def: "A adenoid cystic carcinoma that involves the uterine cervix." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213823"}
synonym: "cervical adenoid cystic carcinoma" EXACT [Orphanet:213823]
synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213823/btnt", source="Orphanet:213823"}
xref: ICD10:C53.1 {source="ORDO:213823/btnt", source="Orphanet:213823"}
xref: ICD10:C53.8 {source="ORDO:213823/btnt", source="Orphanet:213823"}
xref: Orphanet:213823 {source="MONDO:equivalentTo"}
is_a: MONDO:0004971 ! adenoid cystic carcinoma
is_a: MONDO:0016275 ! adenocarcinoma of cervix uteri
property_value: exactMatch Orphanet:213823

[Term]
id: MONDO:0016287
name: adenoid basal carcinoma of the cervix uteri
def: "A skin adenoid basal cell carcinoma that involves the uterine cervix." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213828"}
synonym: "cervical adenoid basal carcinoma" EXACT [Orphanet:213828]
synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="ORDO:213828/btnt", source="MONDO:relatedTo", source="Orphanet:213828"}
xref: ICD10:C53.1 {source="ORDO:213828/btnt", source="Orphanet:213828"}
xref: ICD10:C53.8 {source="ORDO:213828/btnt", source="Orphanet:213828"}
xref: Orphanet:213828 {source="MONDO:equivalentTo"}
xref: UMLS:CN201077 {source="MONDO:equivalentTo"}
is_a: MONDO:0002951 ! skin adenoid basal cell carcinoma
is_a: MONDO:0005131 ! cervical carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201077
property_value: exactMatch Orphanet:213828

[Term]
id: MONDO:0016288
name: obsolete glassy cell carcinoma of the cervix uteri
is_obsolete: true
replaced_by: MONDO:0004542

[Term]
id: MONDO:0016289
name: malignant germ cell tumor of cervix uteri
def: "A malignant germ cell tumor that involves the uterine cervix." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:213837"}
synonym: "cervical germ cell cancer" EXACT [Orphanet:213837]
synonym: "cervical malignant germ cell tumor" EXACT [Orphanet:213837]
synonym: "germ cell cancer of cervix uteri" EXACT [Orphanet:213837]
synonym: "germ cell cancer of the cervix uteri" EXACT [Orphanet:213837]
synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:213837]
synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location]
xref: ICD10:C53.0 {source="MONDO:relatedTo", source="ORDO:213837/btnt", source="Orphanet:213837"}
xref: ICD10:C53.1 {source="ORDO:213837/btnt", source="Orphanet:213837"}
xref: ICD10:C53.8 {source="ORDO:213837/btnt", source="Orphanet:213837"}
xref: Orphanet:213837 {source="MONDO:equivalentTo"}
xref: UMLS:CN201079 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="Orphanet:213837"} ! cervical cancer
is_a: MONDO:0006290 ! malignant germ cell tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201079
property_value: exactMatch Orphanet:213837

[Term]
id: MONDO:0016290
name: Hernández-Aguirre Negrete syndrome
def: "Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." [Orphanet:2139]
subset: ordo_malformation_syndrome {source="Orphanet:2139"}
synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" RELATED [] {source="MESH:C538112"}
synonym: "intellectual disability-epilepsy-bulbous nose syndrome" EXACT [Orphanet:2139]
xref: GARD:0003491 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2139/attributed", source="ORDO:2139/ntbt", source="Orphanet:2139"}
xref: MESH:C538112 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="Orphanet:2139", source="ORDO:2139/e"}
xref: MONDO:0022314 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:2139 {source="MONDO:equivalentTo"}
xref: SCTID:721146009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2139", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2139"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020066 {source="MESH:C538112", source="MONDOLEX:0022314"} ! Ehlers-Danlos syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C538112
property_value: exactMatch http://identifiers.org/snomedct/721146009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931736
property_value: exactMatch Orphanet:2139

[Term]
id: MONDO:0016291
name: craniosynostosis, Herrmann-Opitz type
def: "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." [Orphanet:2145]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2145"}
synonym: "Herrmann Opitz craniosynostosis" RELATED [GARD:0002671]
xref: GARD:0002671 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2145", source="ORDO:2145/attributed", source="ORDO:2145/ntbt"}
xref: Orphanet:2145 {source="MONDO:equivalentTo"}
xref: UMLS:CN226893 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:2145"} ! syndromic craniosynostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226893
property_value: exactMatch Orphanet:2145

[Term]
id: MONDO:0016292
name: nodular neuronal heterotopia
subset: ordo_morphological_anomaly {source="Orphanet:2149"}
synonym: "genetic nodular heterotopia" EXACT [MONDO:cjm]
synonym: "hereditary nodular heterotopia" RELATED [GARD:0002661]
synonym: "nodular heterotopia" EXACT []
xref: GARD:0002661 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="ORDO:2149/attributed", source="ORDO:2149/ntbt", source="Orphanet:2149"}
xref: Orphanet:2149 {source="MONDO:equivalentTo"}
xref: SCTID:253151003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2149"} ! syndromic intellectual disability
is_a: MONDO:0015572 {source="Orphanet:2149"} ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch http://identifiers.org/snomedct/253151003
property_value: exactMatch Orphanet:2149
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia xsd:anyURI {source="GARD:0002661"}

[Term]
id: MONDO:0016293
name: congenital stationary night blindness
subset: ordo_disease {source="Orphanet:215"}
synonym: "congenital essential nyctalopia" EXACT [DOID:0050534, Orphanet:215]
synonym: "night blindness, congenital stationary" EXACT [OMIMPS:310500]
xref: DOID:0050534 {source="MONDO:equivalentTo"}
xref: ICD10:H53.6 {source="MONDO:subClassOf", source="Orphanet:215", source="ORDO:215/attributed", source="ORDO:215/ntbt"}
xref: ICD10:H53.63 {source="DOID:0050534"}
xref: ICD9:368.61 {source="MONDO:equivalentTo", source="DOID:0050534", source="i2s"}
xref: MESH:C536122 {source="Orphanet:215", source="MONDO:equivalentTo", source="ORDO:215/e"}
xref: OMIMPS:310500 {source="MONDO:equivalentTo", source="DOID:0050534"}
xref: Orphanet:215 {source="MONDO:equivalentTo", source="DOID:0050534"}
xref: SCTID:232061009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.92/1.29"}
is_a: MONDO:0004587 ! hereditary night blindness
is_a: MONDO:0020241 {source="Orphanet:215"} ! unclassified familial retinal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/193688005
property_value: closeMatch http://identifiers.org/snomedct/193689002
property_value: closeMatch http://identifiers.org/snomedct/89208008
property_value: exactMatch DOID:0050534
property_value: exactMatch http://identifiers.org/mesh/C536122
property_value: exactMatch http://identifiers.org/snomedct/232061009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339535
property_value: exactMatch Orphanet:215

[Term]
id: MONDO:0016294
name: Hirschsprung disease-type D brachydactyly syndrome
def: "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." [Orphanet:2150]
subset: ordo_malformation_syndrome {source="Orphanet:2150"}
synonym: "familial Hirschsprung's disease and type D brachydactyly" RELATED [GARD:0002700]
synonym: "Hirschsprung disease type d brachydactyly" RELATED [GARD:0002700]
synonym: "Hirschsprung disease with type D brachydactyly" RELATED [OMIM:306980]
synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609]
xref: GARD:0002700 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q43.1 {source="ORDO:2150/attributed", source="ORDO:2150/ntbt", source="Orphanet:2150"}
xref: MESH:C538319 {source="MONDO:equivalentTo", source="ORDO:2150/e", source="MONDO:ontobio", source="Orphanet:2150"}
xref: OMIM:306980 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="ORDO:2150/e", source="Orphanet:2150"}
xref: Orphanet:2150 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:306980"}
xref: UMLS:C1844017 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2150/e", source="Orphanet:2150", source="OMIM:306980"}
is_a: MONDO:0015246 {source="Orphanet:2150"} ! syndromic anorectal malformation
is_a: MONDO:0021189 {source="Orphanet:2150"} ! intestinal motility disease
is_a: MONDO:0043008 {source="Orphanet:2150"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C538319
property_value: exactMatch http://identifiers.org/omim/306980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1844017
property_value: exactMatch Orphanet:2150

[Term]
id: MONDO:0016295
name: neuronal ceroid lipofuscinosis
def: "Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." [Orphanet:216]
subset: ordo_group_of_disorders {source="Orphanet:216"}
synonym: "ceroid lipofuscinoses" EXACT [OMIMPS:256730]
synonym: "hereditary ceroid lipofuscinosis" EXACT [CSP2005:1849-6833, DOID:14503]
synonym: "NCL" EXACT [Orphanet:216]
xref: DOID:14503 {source="MONDO:equivalentTo"}
xref: GARD:0010739 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.4 {source="DOID:14503", source="ORDO:216/e", source="Orphanet:216", source="ORDO:216/specific", source="MONDO:equivalentTo"}
xref: NCIT:C61257 {source="DOID:14503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:256730 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: Orphanet:216 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: SCTID:42012007 {source="DOID:14503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027877 {source="DOID:14503", source="ORDO:216/e", source="Orphanet:216", source="MONDO:equivalentTo", source="NCIT:C61257"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016397 {source="Orphanet:216"} ! lysosomal disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:216"} ! neurometabolic disease
is_a: MONDO:0019245 {source="DOID:14503"} ! lysosomal lipid storage disorder
is_a: MONDO:0020244 {source="Orphanet:216"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:216"} ! inherited neurodegenerative disorder
property_value: exactMatch DOID:14503
property_value: exactMatch http://identifiers.org/mesh/D009472
property_value: exactMatch http://identifiers.org/snomedct/42012007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027877
property_value: exactMatch NCIT:C61257
property_value: exactMatch Orphanet:216

[Term]
id: MONDO:0016296
name: holoprosencephaly
def: "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." [Orphanet:2162]
subset: gard_rare {source="GARD:0006665"}
subset: ordo_malformation_syndrome {source="Orphanet:2162"}
synonym: "holoprosencephaly sequence" EXACT [NCIT:C74988]
synonym: "HPE" EXACT [Orphanet:2162]
xref: DOID:4621 {source="MONDO:equivalentTo"}
xref: GARD:0006665 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.2 {source="DOID:4621", source="MONDO:equivalentTo", source="ORDO:2162/specific", source="Orphanet:2162", source="ORDO:2162/e"}
xref: MedDRA:10056304 {source="Orphanet:2162", source="ORDO:2162/e"}
xref: MESH:D016142 {source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162", source="ORDO:2162/e"}
xref: NCIT:C74988 {source="DOID:4621", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:236100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="DOID:4621", source="MONDO:equivalentTo"}
xref: SCTID:30915001 {source="DOID:4621", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.74/0.06"}
xref: UMLS:C0079541 {source="NCIT:C74988", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162", source="ORDO:2162/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2162", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2162"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015655 {source="Orphanet:2162"} ! cerebral malformation with epilepsy
is_a: MONDO:0017090 {source="Orphanet:2162"} ! midline cerebral malformation
is_a: MONDO:0019827 {source="Orphanet:2162"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/44519006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3711749
property_value: exactMatch DOID:4621
property_value: exactMatch http://identifiers.org/meddra/10056304
property_value: exactMatch http://identifiers.org/mesh/D016142
property_value: exactMatch http://identifiers.org/snomedct/30915001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079541
property_value: exactMatch NCIT:C74988
property_value: exactMatch Orphanet:2162
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly xsd:anyURI {source="GARD:0006665"}

[Term]
id: MONDO:0016297
name: prelingual non-syndromic genetic deafness
def: "Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." [Orphanet:216445]
subset: ordo_disease {source="Orphanet:216445"}
synonym: "isolated prelingual genetic deafness" EXACT [Orphanet:216445]
xref: Orphanet:216445 {source="MONDO:equivalentTo"}
xref: SCTID:764098007 {source="MONDO:equivalentTo"}
is_a: MONDO:0019497 {source="Orphanet:216445"} ! nonsyndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/764098007
property_value: exactMatch Orphanet:216445

[Term]
id: MONDO:0016298
name: postlingual non-syndromic genetic deafness
def: "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." [Orphanet:216452]
subset: ordo_disease {source="Orphanet:216452"}
synonym: "isolated postlingual genetic deafness" EXACT [Orphanet:216452]
xref: Orphanet:216452 {source="MONDO:equivalentTo"}
xref: SCTID:764097002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019497 {source="Orphanet:216452"} ! nonsyndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/764097002
property_value: exactMatch Orphanet:216452

[Term]
id: MONDO:0016299
name: holoprosencephaly-caudal dysgenesis syndrome
def: "Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." [Orphanet:2165]
subset: ordo_malformation_syndrome {source="Orphanet:2165"}
xref: ICD10:Q04.2 {source="Orphanet:2165", source="MONDO:relatedTo", source="ORDO:2165/ntbt"}
xref: Orphanet:2165 {source="MONDO:equivalentTo"}
xref: UMLS:CN201097 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:2165"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201097
property_value: exactMatch Orphanet:2165

[Term]
id: MONDO:0016300
name: obsolete transposition of the great arteries
is_obsolete: true
replaced_by: MONDO:0000153

[Term]
id: MONDO:0016301
name: congenitally corrected transposition of the great arteries
def: "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." [Orphanet:216694]
subset: gard_rare {source="GARD:0001544"}
subset: ordo_morphological_anomaly {source="Orphanet:216694"}
synonym: "congenitally corrected transposition of the great vessels" EXACT [Orphanet:216694]
synonym: "discordant ventriculoarterial and atrioventricular connections" EXACT [Orphanet:216694]
synonym: "Double discordance" EXACT [Orphanet:216694]
synonym: "L-transposition of the great arteries" EXACT [Orphanet:216694]
synonym: "L-transposition of the great vessels" EXACT [NCIT:C98902]
synonym: "levo-transposition of the great arteries" EXACT [Orphanet:216694]
synonym: "levo-transposition of the great vessels" EXACT [NCIT:C98902]
synonym: "transposition of the great arteries, congenitally corrected" RELATED [GARD:0001544]
synonym: "transposition of the great vessels, congenitally corrected" RELATED [GARD:0001544]
synonym: "ventricular inversion" EXACT [Orphanet:216694]
synonym: "ventriculoarterial and atrioventricular discordance" EXACT [Orphanet:216694]
xref: GARD:0001544 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.5 {source="ORDO:216694/e", source="Orphanet:216694"}
xref: ICD9:745.12 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10011120 {source="ORDO:216694/e", source="Orphanet:216694"}
xref: MESH:C535426 {source="MONDO:equivalentTo", source="ORDO:216694/e", source="MONDO:ontobio", source="Orphanet:216694"}
xref: NCIT:C98902 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:216694 {source="MONDO:equivalentTo"}
xref: SCTID:83799000 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:C3274488 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000153 {source="NCIT:C98902", source="Orphanet:216694"} ! transposition of the great arteries
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1275809
property_value: exactMatch http://identifiers.org/meddra/10011120
property_value: exactMatch http://identifiers.org/mesh/C535426
property_value: exactMatch http://identifiers.org/snomedct/83799000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274488
property_value: exactMatch NCIT:C98902
property_value: exactMatch Orphanet:216694
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries xsd:anyURI {source="GARD:0001544"}

[Term]
id: MONDO:0016302
name: isolated congenitally uncorrected transposition of the great arteries
subset: ordo_clinical_subtype {source="Orphanet:216718"}
synonym: "isolated congenitally uncorrected transposition of the great vessels" EXACT [Orphanet:216718]
xref: ICD10:Q20.3 {source="ORDO:216718/attributed", source="ORDO:216718/ntbt", source="Orphanet:216718"}
xref: Orphanet:216718 {source="MONDO:equivalentTo"}
is_a: MONDO:0019443 {source="MONDOLEX:0016302", source="Orphanet:216718"} ! dextro-looped transposition of the great arteries
property_value: exactMatch Orphanet:216718

[Term]
id: MONDO:0016303
name: congenitally uncorrected transposition of the great arteries with cardiac malformation
subset: ordo_clinical_subtype {source="Orphanet:216729"}
synonym: "congenitally uncorrected transposition of the great vessels with cardiac malformation" EXACT [Orphanet:216729]
synonym: "TGA with cardiac malformation" EXACT [Orphanet:216729]
xref: ICD10:Q20.3 {source="ORDO:216729/attributed", source="ORDO:216729/ntbt", source="Orphanet:216729"}
xref: Orphanet:216729 {source="MONDO:equivalentTo"}
is_a: MONDO:0019443 {source="MONDOLEX:0016303", source="Orphanet:216729"} ! dextro-looped transposition of the great arteries
property_value: exactMatch Orphanet:216729

[Term]
id: MONDO:0016304
name: classic pantothenate kinase-associated neurodegeneration
subset: ordo_clinical_subtype {source="Orphanet:216866"}
synonym: "NBIA1, classic form" EXACT [Orphanet:216866]
synonym: "neurodegeneration with brain iron accumulation type 1, classic form" EXACT [Orphanet:216866]
synonym: "PKAN, classic form" EXACT [Orphanet:216866]
xref: ICD10:G23.0 {source="Orphanet:216866", source="ORDO:216866/attributed", source="ORDO:216866/ntbt"}
xref: Orphanet:216866 {source="MONDO:equivalentTo"}
xref: UMLS:CN201109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009319 {source="MONDOLEX:0016304", source="Orphanet:216866"} ! pantothenate kinase-associated neurodegeneration
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201109
property_value: exactMatch Orphanet:216866

[Term]
id: MONDO:0016305
name: atypical pantothenate kinase-associated neurodegeneration
subset: ordo_clinical_subtype {source="Orphanet:216873"}
synonym: "NBIA1, atypical form" EXACT [Orphanet:216873]
synonym: "neurodegeneration with brain iron accumulation type 1, atypical form" EXACT [Orphanet:216873]
synonym: "PKAN, atypical form" EXACT [Orphanet:216873]
xref: ICD10:G23.0 {source="ORDO:216873/attributed", source="ORDO:216873/ntbt", source="Orphanet:216873"}
xref: Orphanet:216873 {source="MONDO:equivalentTo"}
xref: UMLS:CN201110 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009319 {source="MONDOLEX:0016305", source="Orphanet:216873"} ! pantothenate kinase-associated neurodegeneration
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201110
property_value: exactMatch Orphanet:216873

[Term]
id: MONDO:0016306
name: Niemann-Pick disease type C, severe perinatal form
subset: ordo_clinical_subtype {source="Orphanet:216972"}
xref: ICD10:E75.2 {source="ORDO:216972/attributed", source="ORDO:216972/ntbt", source="Orphanet:216972"}
xref: Orphanet:216972 {source="MONDO:equivalentTo"}
xref: UMLS:CN201112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018982 {source="MONDOLEX:0016306", source="Orphanet:216972"} ! Niemann-Pick disease type C
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201112
property_value: exactMatch Orphanet:216972

[Term]
id: MONDO:0016307
name: Niemann-Pick disease type C, severe early infantile neurologic onset
subset: ordo_clinical_subtype {source="Orphanet:216975"}
xref: ICD10:E75.2 {source="Orphanet:216975", source="ORDO:216975/attributed", source="ORDO:216975/ntbt"}
xref: Orphanet:216975 {source="MONDO:equivalentTo"}
xref: UMLS:CN201113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018982 {source="MONDOLEX:0016307", source="Orphanet:216975"} ! Niemann-Pick disease type C
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201113
property_value: exactMatch Orphanet:216975

[Term]
id: MONDO:0016308
name: Niemann-Pick disease type C, late infantile neurologic onset
subset: ordo_clinical_subtype {source="Orphanet:216978"}
xref: ICD10:E75.2 {source="Orphanet:216978", source="ORDO:216978/attributed", source="ORDO:216978/ntbt"}
xref: Orphanet:216978 {source="MONDO:equivalentTo"}
xref: UMLS:CN201114 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018982 {source="MONDOLEX:0016308", source="Orphanet:216978"} ! Niemann-Pick disease type C
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201114
property_value: exactMatch Orphanet:216978

[Term]
id: MONDO:0016309
name: Niemann-Pick disease type C, juvenile neurologic onset
subset: ordo_clinical_subtype {source="Orphanet:216981"}
synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981]
xref: ICD10:E75.2 {source="Orphanet:216981", source="ORDO:216981/attributed", source="ORDO:216981/ntbt"}
xref: Orphanet:216981 {source="MONDO:equivalentTo"}
xref: UMLS:CN201115 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018982 {source="MONDOLEX:0016309", source="Orphanet:216981"} ! Niemann-Pick disease type C
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201115
property_value: exactMatch Orphanet:216981

[Term]
id: MONDO:0016310
name: Niemann-Pick disease type C, adult neurologic onset
subset: ordo_clinical_subtype {source="Orphanet:216986"}
xref: ICD10:E75.2 {source="Orphanet:216986", source="ORDO:216986/attributed", source="ORDO:216986/ntbt"}
xref: Orphanet:216986 {source="MONDO:equivalentTo"}
xref: UMLS:CN201116 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018982 {source="MONDOLEX:0016310", source="Orphanet:216986"} ! Niemann-Pick disease type C
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201116
property_value: exactMatch Orphanet:216986

[Term]
id: MONDO:0016311
name: Bockenheimer syndrome
subset: ordo_malformation_syndrome {source="Orphanet:217008"}
synonym: "genuine diffuse phlebectasia" EXACT [Orphanet:217008]
xref: GARD:0013063 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q27.4 {source="Orphanet:217008", source="ORDO:217008/ntbt"}
xref: Orphanet:217008 {source="MONDO:equivalentTo"}
xref: UMLS:CN201119 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016232 {source="Orphanet:217008"} ! rare venous malformation
is_a: MONDO:0019293 {source="Orphanet:217008"} ! skin vascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201119
property_value: exactMatch Orphanet:217008

[Term]
id: MONDO:0016312
name: 5-fluorouracil poisoning
def: "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." [Orphanet:217064]
subset: ordo_clinical_situation {source="Orphanet:217064"}
synonym: "5-fluorouracil intoxication" EXACT [Orphanet:217064]
xref: ICD10:T45.1 {source="ORDO:217064/ntbt", source="Orphanet:217064"}
xref: MESH:C531667 {source="MONDO:equivalentTo"}
xref: Orphanet:217064 {source="MONDO:equivalentTo"}
xref: UMLS:CN201128 {source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:217064"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/mesh/C531667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201128
property_value: exactMatch Orphanet:217064

[Term]
id: MONDO:0016313
name: obsolete renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0005086

[Term]
id: MONDO:0016314
name: obsolete rare carcinoma of pancreas
def: "Rare pancreatic carcinoma." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:217074"}
synonym: "rare exocrine pancreatic carcinoma" EXACT [MONDO:patterns/rare]
synonym: "rare pancreatic carcinoma" EXACT [Orphanet:217074]
xref: Orphanet:217074 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN201130 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201130
property_value: exactMatch Orphanet:217074
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005192
consider: MedDRA:10033604 {source="Orphanet:217074", source="ORDO:217074/e"}
consider: MedDRA:10033609 {source="Orphanet:217074", source="ORDO:217074/e"}
consider: MESH:D010190 {source="MONDO:subClassOf", source="Orphanet:217074", source="ORDO:217074/e"}
consider: UMLS:C0235974 {source="MONDO:subClassOf", source="Orphanet:217074", source="ORDO:217074/e"}
consider: UMLS:C0346647 {source="Orphanet:217074"}

[Term]
id: MONDO:0016315
name: mucopolysaccharidosis type 2, severe form
def: "Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." [Orphanet:217085]
subset: ordo_clinical_subtype {source="Orphanet:217085"}
synonym: "Hunter syndrome type A" EXACT [Orphanet:217085]
synonym: "iduronate 2-sulfatase deficiency type A" EXACT [Orphanet:217085]
synonym: "MPS2A" EXACT [Orphanet:217085]
synonym: "MPSIIA" EXACT [Orphanet:217085]
synonym: "mucopolysaccharidosis type 2A" EXACT [Orphanet:217085]
synonym: "mucopolysaccharidosis type II, severe form" EXACT [Orphanet:217085]
synonym: "mucopolysaccharidosis type IIA" EXACT [Orphanet:217085]
xref: ICD10:E76.1 {source="MONDO:subClassOf", source="ORDO:217085/attributed", source="ORDO:217085/ntbt", source="Orphanet:217085"}
xref: Orphanet:217085 {source="MONDO:equivalentTo"}
xref: SCTID:73146005 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:CN201131 {source="MONDO:equivalentTo"}
is_a: MONDO:0010674 {source="Orphanet:217085", source="linkedlifedata"} ! mucopolysaccharidosis type 2
property_value: exactMatch http://identifiers.org/snomedct/73146005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201131
property_value: exactMatch Orphanet:217085

[Term]
id: MONDO:0016316
name: mucopolysaccharidosis type 2, attenuated form
def: "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." [Orphanet:217093]
subset: ordo_clinical_subtype {source="Orphanet:217093"}
synonym: "Hunter syndrome type B" EXACT [Orphanet:217093]
synonym: "iduronate 2-sulfatase deficiency type B" EXACT [Orphanet:217093]
synonym: "MPS2B" EXACT [Orphanet:217093]
synonym: "MPSIIB" EXACT [Orphanet:217093]
synonym: "mucopolysaccharidosis type 2B" EXACT [Orphanet:217093]
synonym: "mucopolysaccharidosis type II, attenuated form" EXACT [Orphanet:217093]
synonym: "mucopolysaccharidosis type IIB" EXACT [Orphanet:217093]
xref: ICD10:E76.1 {source="MONDO:subClassOf", source="Orphanet:217093", source="ORDO:217093/attributed", source="ORDO:217093/ntbt"}
xref: Orphanet:217093 {source="MONDO:equivalentTo"}
xref: UMLS:CN201132 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010674 {source="Orphanet:217093"} ! mucopolysaccharidosis type 2
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201132
property_value: exactMatch Orphanet:217093

[Term]
id: MONDO:0016317
name: limbic encephalitis with NMDA receptor antibodies
def: "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis (see this term) affecting young women with teratoma of ovary (see this term) and associated with antibodies that react with neuronal cell surface auto-antigens." [Orphanet:217253]
subset: ordo_disease {source="Orphanet:217253"}
synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXACT [Orphanet:217253]
xref: ICD10:G13.1 {source="ORDO:217253/ntbt", source="Orphanet:217253"}
xref: Orphanet:217253 {source="MONDO:equivalentTo"}
xref: SCTID:716684004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274344 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN201135 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015589 {source="Orphanet:217253"} ! paraneoplastic limbic encephalitis
is_a: MONDO:0015594 {source="Orphanet:217253"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch http://identifiers.org/snomedct/716684004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201135
property_value: exactMatch Orphanet:217253

[Term]
id: MONDO:0016318
name: progressive multifocal leukoencephalopathy
def: "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain . It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." [https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy]
subset: gard_rare {source="GARD:0007468"}
subset: ordo_disease {source="Orphanet:217260"}
synonym: "leukoencephalopathy, progressive multifocal" RELATED [GARD:0007468]
synonym: "PML" EXACT [CSP2005:2042-2309, DOID:643, Orphanet:217260]
synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260]
xref: COHD:433957 {source="MONDO:equivalentTo"}
xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"}
xref: EFO:0007455 {source="MONDO:equivalentTo"}
xref: GARD:0007468 {source="MONDO:equivalentTo"}
xref: ICD10:A81.2 {source="DOID:643", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260"}
xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10036807 {source="ORDO:217260/e", source="Orphanet:217260"}
xref: MESH:D007968 {source="DOID:643", source="EFO:0007455", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260", source="MONDO:ontobio"}
xref: NCIT:C26815 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: Orphanet:217260 {source="MONDO:equivalentTo"}
xref: SCTID:22255007 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023524 {source="DOID:643", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260", source="NCIT:C26815"}
is_a: MONDO:0020067 {source="MESH:D007968/inferred", source="Orphanet:217260"} ! infectious encephalitis
property_value: exactMatch DOID:643
property_value: exactMatch http://identifiers.org/meddra/10036807
property_value: exactMatch http://identifiers.org/mesh/D007968
property_value: exactMatch http://identifiers.org/snomedct/22255007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023524
property_value: exactMatch NCIT:C26815
property_value: exactMatch Orphanet:217260
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy xsd:anyURI {source="GARD:0007468"}

[Term]
id: MONDO:0016319
name: congenital insensitivity to pain with hyperhidrosis
subset: ordo_disease {source="Orphanet:217399"}
synonym: "congenital absence of pain with hyperhidrosis" EXACT [Orphanet:217399]
synonym: "congenital analgesia with hyperhidrosis" EXACT [Orphanet:217399]
synonym: "congenital indifference to pain with hyperhidrosis" EXACT [Orphanet:217399]
xref: ICD10:G90.8 {source="Orphanet:217399", source="ORDO:217399/attributed", source="ORDO:217399/ntbt"}
xref: Orphanet:217399 {source="MONDO:equivalentTo"}
is_a: MONDO:0015364 {source="MONDOLEX:0016319", source="Orphanet:217399"} ! hereditary sensory and autonomic neuropathy
property_value: exactMatch Orphanet:217399

[Term]
id: MONDO:0016320
name: rare hereditary thrombophilia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:217454"}
xref: ICD10:D68.5 {source="Orphanet:217454", source="ORDO:217454/attributed", source="ORDO:217454/ntbt"}
xref: Orphanet:217454 {source="MONDO:equivalentTo"}
xref: UMLS:C2584620 {source="MONDO:equivalentTo", source="Orphanet:217454"}
is_a: MONDO:0016633 {source="Orphanet:217454"} ! thrombotic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0018377 {source="Orphanet:217454"} ! rare hereditary disease with avascular necrosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584620
property_value: exactMatch Orphanet:217454
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016321
name: pulmonary interstitial glycogenosis
def: "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term)." [Orphanet:217557]
subset: ordo_disease {source="Orphanet:217557"}
synonym: "infantile cellular interstitial pneumonitis" EXACT [Orphanet:217557]
synonym: "pig" EXACT [Orphanet:217557]
xref: ICD10:J84.842 {source="MONDO:equivalentTo"}
xref: ICD10:P22.8 {source="Orphanet:217557", source="ORDO:217557/ntbt"}
xref: Orphanet:217557 {source="MONDO:equivalentTo"}
xref: SCTID:707551007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3161106 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017019 {source="Orphanet:217557"} ! interstitial lung disease specific to infancy
property_value: exactMatch http://identifiers.org/snomedct/707551007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3161106
property_value: exactMatch Orphanet:217557

[Term]
id: MONDO:0016322
name: neuroendocrine cell hyperplasia of infancy
def: "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure." [Orphanet:217560]
subset: ordo_disease {source="Orphanet:217560"}
synonym: "NCHI" EXACT [Orphanet:217560]
synonym: "NEHI" EXACT [Orphanet:217560]
xref: ICD10:J84.841 {source="MONDO:equivalentTo"}
xref: NCIT:C120169 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:217560 {source="MONDO:equivalentTo"}
xref: SCTID:707435002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3161105 {source="MONDO:equivalentTo", source="Orphanet:217560", source="NCIT:C120169"}
is_a: MONDO:0005043 {source="NCIT:C120169"} ! hyperplasia
is_a: MONDO:0017019 {source="Orphanet:217560"} ! interstitial lung disease specific to infancy
property_value: exactMatch http://identifiers.org/snomedct/707435002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3161105
property_value: exactMatch NCIT:C120169
property_value: exactMatch Orphanet:217560

[Term]
id: MONDO:0016323
name: chronic respiratory distress with surfactant metabolism deficiency
subset: ordo_disease {source="Orphanet:217566"}
xref: ICD10:J84.8 {source="ORDO:217566/attributed", source="ORDO:217566/ntbt", source="Orphanet:217566"}
xref: Orphanet:217566 {source="MONDO:equivalentTo"}
is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis
is_a: MONDO:0017032 {source="Orphanet:217566"} ! primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
property_value: exactMatch Orphanet:217566

[Term]
id: MONDO:0016324
name: obsolete hypertrophic cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0005045

[Term]
id: MONDO:0016325
name: glycogen storage disease with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217572"}
synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572]
synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572]
xref: ICD10:E74.0 {source="MONDO:relatedTo", source="ORDO:217572/attributed", source="ORDO:217572/ntbt", source="Orphanet:217572"}
xref: Orphanet:217572 {source="MONDO:equivalentTo"}
xref: UMLS:CN201158 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020484 {source="Orphanet:217572"} ! rare familial disorder with hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201158
property_value: exactMatch Orphanet:217572

[Term]
id: MONDO:0016326
name: lysosomal disease with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217581"}
xref: Orphanet:217581 {source="MONDO:equivalentTo"}
xref: UMLS:CN201159 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002561 ! lysosomal storage disease
is_a: MONDO:0020484 {source="Orphanet:217581"} ! rare familial disorder with hypertrophic cardiomyopathy
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201159
property_value: exactMatch Orphanet:217581

[Term]
id: MONDO:0016327
name: mitochondrial disease with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217587"}
xref: Orphanet:217587 {source="MONDO:equivalentTo"}
xref: UMLS:CN201160 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="MONDO:cjm"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0020484 {source="Orphanet:217587"} ! rare familial disorder with hypertrophic cardiomyopathy
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201160
property_value: exactMatch Orphanet:217587

[Term]
id: MONDO:0016328
name: fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217591"}
xref: Orphanet:217591 {source="MONDO:equivalentTo"}
xref: UMLS:CN226902 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017713 {source="MONDO:Redundant", source="MONDO:cjm"} ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0020484 {source="Orphanet:217591"} ! rare familial disorder with hypertrophic cardiomyopathy
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226902
property_value: exactMatch Orphanet:217591

[Term]
id: MONDO:0016329
name: familial syndrome associated with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217595"}
synonym: "syndrome associated with hypertrophic cardiomyopathy" EXACT [Orphanet:217595]
xref: Orphanet:217595 {source="MONDO:equivalentTo"}
xref: UMLS:CN201161 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020484 {source="Orphanet:217595"} ! rare familial disorder with hypertrophic cardiomyopathy
is_a: MONDO:0024573 ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_feature MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0005045 ! hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201161
property_value: exactMatch Orphanet:217595

[Term]
id: MONDO:0016330
name: non-familial hypertrophic cardiomyopathy
def: "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:217598"}
synonym: "acquired hypertrophic cardiomyopathy" EXACT [MONDO:patterns/acquired]
xref: Orphanet:217598 {source="MONDO:equivalentTo"}
xref: UMLS:CN226903 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005045 {source="MONDO:Redundant", source="Orphanet:217598"} ! hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226903
property_value: exactMatch Orphanet:217598

[Term]
id: MONDO:0016331
name: infantile systemic hyalinosis
def: "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." [Orphanet:2176]
subset: ordo_disease {source="Orphanet:2176"}
xref: ICD10:E78.8 {source="Orphanet:2176", source="ORDO:2176/attributed", source="ORDO:2176/ntbt"}
xref: Orphanet:2176 {source="MONDO:equivalentTo"}
xref: SCTID:238867003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.00"}
is_a: MONDO:0009229 {source="Orphanet:2176"} ! hyaline fibromatosis syndrome
is_a: MONDO:0015331 {source="Orphanet:2176"} ! malformation syndrome with skin/mucosae involvement
property_value: closeMatch http://identifiers.org/omim/236490
property_value: exactMatch http://identifiers.org/snomedct/238867003
property_value: exactMatch Orphanet:2176

[Term]
id: MONDO:0016332
name: hypertrophic cardiomyopathy due to intensive athletic training
subset: ordo_disease {source="Orphanet:217601"}
xref: ICD10:I42.2 {source="Orphanet:217601", source="ORDO:217601/ntbt"}
xref: Orphanet:217601 {source="MONDO:equivalentTo"}
xref: UMLS:CN226904 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016330 {source="Orphanet:217601"} ! non-familial hypertrophic cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226904
property_value: exactMatch Orphanet:217601

[Term]
id: MONDO:0016333
name: familial dilated cardiomyopathy
def: "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." [https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy]
comment: Editor note: unsure if GARD is familial form
subset: ordo_group_of_disorders {source="Orphanet:217607"}
synonym: "DCM" RELATED [GARD:0000221]
synonym: "dilated cardiomyopathy, familial" RELATED [GARD:0002905]
synonym: "hereditary dilated cardiomyopathy" EXACT [MONDO:patterns/hereditary]
synonym: "hypokinetic dilated cardiomyopathy, familial" RELATED [GARD:0002905]
synonym: "idiopathic dilated cardiomyopathy" RELATED [GARD:0000221]
xref: GARD:0000221 {source="MONDO:equivalentTo"}
xref: GARD:0002905 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I42.0 {source="MONDO:subClassOf", source="ORDO:217607/attributed", source="ORDO:217607/ntbt", source="Orphanet:217607"}
xref: MESH:C536231 {source="MONDO:equivalentTo", source="Orphanet:217607", source="ORDO:217607/e"}
xref: OMIMPS:115200 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: Orphanet:217607 {source="MONDO:equivalentTo"}
xref: UMLS:C0340427 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:217607", source="ORDO:217607/e"}
is_a: MONDO:0005021 {source="MESH:C536231", source="MONDO:Redundant", source="Orphanet:217607"} ! dilated cardiomyopathy
is_a: MONDO:0005217 ! familial cardiomyopathy
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C536231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340427
property_value: exactMatch Orphanet:217607

[Term]
id: MONDO:0016334
name: neuromuscular disease with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217610"}
xref: Orphanet:217610 {source="MONDO:equivalentTo"}
xref: UMLS:CN201165 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016333 {source="Orphanet:217610"} ! familial dilated cardiomyopathy
is_a: MONDO:0019056 {source="MONDO:cjm"} ! neuromuscular disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201165
property_value: exactMatch Orphanet:217610

[Term]
id: MONDO:0016335
name: mitochondrial disease with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217613"}
xref: Orphanet:217613 {source="MONDO:equivalentTo"}
xref: UMLS:CN201166 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="MONDO:cjm"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016333 {source="Orphanet:217613"} ! familial dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201166
property_value: exactMatch Orphanet:217613

[Term]
id: MONDO:0016336
name: fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217616"}
xref: Orphanet:217616 {source="MONDO:equivalentTo"}
xref: UMLS:CN226905 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016333 {source="Orphanet:217616"} ! familial dilated cardiomyopathy
is_a: MONDO:0017713 {source="MONDO:cjm"} ! disorder of fatty acid oxidation and ketogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226905
property_value: exactMatch Orphanet:217616

[Term]
id: MONDO:0016337
name: syndrome associated with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217619"}
xref: Orphanet:217619 {source="MONDO:equivalentTo"}
xref: UMLS:CN201167 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016333 {source="Orphanet:217619"} ! familial dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201167
property_value: exactMatch Orphanet:217619

[Term]
id: MONDO:0016338
name: non-familial dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217629"}
xref: Orphanet:217629 {source="MONDO:equivalentTo"}
xref: UMLS:CN226906 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005021 {source="Orphanet:217629"} ! dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226906
property_value: exactMatch Orphanet:217629

[Term]
id: MONDO:0016339
name: obsolete restrictive cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0005201

[Term]
id: MONDO:0016340
name: familial restrictive cardiomyopathy
def: "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:217635"}
synonym: "hereditary restrictive cardiomyopathy" EXACT [MONDO:patterns/hereditary]
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:115210 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:217635 {source="MONDO:equivalentTo"}
xref: SCTID:233878008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.76/1.00"}
is_a: MONDO:0005201 {source="MONDO:Redundant", source="Orphanet:217635", source="linkedlifedata"} ! restrictive cardiomyopathy
is_a: MONDO:0005217 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! familial cardiomyopathy
intersection_of: MONDO:0005201 ! restrictive cardiomyopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/233878008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340429
property_value: exactMatch Orphanet:217635

[Term]
id: MONDO:0016341
name: lysosomal disease with restrictive cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217638"}
xref: Orphanet:217638 {source="MONDO:equivalentTo"}
xref: UMLS:CN201171 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002561 ! lysosomal storage disease
is_a: MONDO:0016340 {source="Orphanet:217638"} ! familial restrictive cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201171
property_value: exactMatch Orphanet:217638

[Term]
id: MONDO:0016342
name: familial isolated arrhythmogenic right ventricular dysplasia
def: "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." [Orphanet:217656]
subset: ordo_disease {source="Orphanet:217656"}
synonym: "familial isolated arrhythmogenic right ventricular cardiomyopathy" EXACT [Orphanet:217656]
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [Orphanet:217656]
synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [Orphanet:217656]
synonym: "familial isolated ARVC" EXACT [Orphanet:217656]
synonym: "familial isolated ARVD" EXACT [Orphanet:217656]
xref: ICD10:I42.8 {source="Orphanet:217656", source="ORDO:217656/attributed", source="ORDO:217656/ntbt"}
xref: Orphanet:217656 {source="MONDO:equivalentTo"}
xref: SCTID:715865008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274968 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN226907 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016587 {source="Orphanet:217656"} ! arrhythmogenic right ventricular cardiomyopathy
property_value: exactMatch http://identifiers.org/snomedct/715865008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226907
property_value: exactMatch Orphanet:217656

[Term]
id: MONDO:0016343
name: unclassified cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217678"}
xref: Orphanet:217678 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="Orphanet:217678"} ! cardiomyopathy
property_value: exactMatch Orphanet:217678

[Term]
id: MONDO:0016344
name: hydranencephaly (disease)
def: "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." [NCIT:P378]
subset: ordo_malformation_syndrome {source="Orphanet:2177"}
synonym: "hydranencephaly" EXACT [MONDO:ambiguous]
synonym: "Hydroanencephaly" RELATED [GARD:0006681]
xref: DOID:4626 {source="MONDO:equivalentTo"}
xref: GARD:0006681 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002324 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q04.3 {source="Orphanet:2177", source="ORDO:2177/inclusion", source="DOID:4626", source="ORDO:2177/ntbt"}
xref: MESH:D006832 {source="Orphanet:2177", source="ORDO:2177/e", source="MONDO:equivalentTo", source="DOID:4626", source="MONDO:ontobio"}
xref: NCIT:C98949 {source="MONDO:equivalentTo", source="DOID:4626", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:2177 {source="MONDO:equivalentTo"}
xref: SCTID:30023002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4626"}
xref: UMLS:C0020225 {source="Orphanet:2177", source="ORDO:2177/e", source="NCIT:C98949", source="MONDO:equivalentTo", source="DOID:4626"}
is_a: MONDO:0000819 {source="DOID:4626"} ! anencephaly
is_a: MONDO:0017103 {source="Orphanet:2177"} ! encephaloclastic disorder
property_value: exactMatch DOID:4626
property_value: exactMatch http://identifiers.org/mesh/D006832
property_value: exactMatch http://identifiers.org/snomedct/30023002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020225
property_value: exactMatch NCIT:C98949
property_value: exactMatch Orphanet:2177

[Term]
id: MONDO:0016345
name: non-familial restrictive cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217720"}
xref: EFO:1001473 {source="MONDO:equivalentTo"}
xref: Orphanet:217720 {source="MONDO:equivalentTo"}
xref: UMLS:CN226908 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005201 {source="Orphanet:217720"} ! restrictive cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226908
property_value: exactMatch Orphanet:217720

[Term]
id: MONDO:0016346
name: hydrocephalus-obesity-hypogonadism syndrome
def: "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." [Orphanet:2183]
subset: ordo_malformation_syndrome {source="Orphanet:2183"}
synonym: "congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism" RELATED [GARD:0002775]
synonym: "hydrocephalus obesity hypogonadism" RELATED [GARD:0002775]
synonym: "Sengers-Hamel-Otten syndrome" EXACT [Orphanet:2183]
xref: GARD:0002775 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:2183 {source="MONDO:equivalentTo"}
xref: SCTID:721231007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:CN201182 {source="MONDO:equivalentTo"}
is_a: MONDO:0016565 {source="Orphanet:2183"} ! syndromic genetic obesity
property_value: exactMatch http://identifiers.org/snomedct/721231007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201182
property_value: exactMatch Orphanet:2183

[Term]
id: MONDO:0016347
name: obsolete rare cardiac rhythm disease
def: "A rare form of cardiac rhythm disease." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:218436"}
synonym: "rare cardiac rhythm disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:218436 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN201185 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201185
property_value: exactMatch Orphanet:218436
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007263

[Term]
id: MONDO:0016348
name: non-genetic cardiac rhythm disease
subset: ordo_group_of_disorders {source="Orphanet:218439"}
xref: Orphanet:218439 {source="MONDO:equivalentTo"}
xref: UMLS:CN201186 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007263 {source="Orphanet:218439"} ! cardiac rhythm disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016347"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201186
property_value: exactMatch Orphanet:218439

[Term]
id: MONDO:0016349
name: congenital hydrocephalus
def: "Hydrocephalus that is present at birth." [NCIT:C98876]
subset: ordo_malformation_syndrome {source="Orphanet:2185"}
synonym: "congenital hydrocephalus" EXACT [MONDO:patterns/congenital]
synonym: "HYC3" RELATED []
xref: COHD:438244 {source="MONDO:equivalentTo"}
xref: ICD10:Q03 {source="MONDO:equivalentTo"}
xref: ICD10:Q03.0 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"}
xref: ICD10:Q03.1 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"}
xref: ICD10:Q03.8 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"}
xref: ICD10:Q03.9 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"}
xref: MedDRA:10010506 {source="ORDO:2185/e", source="Orphanet:2185"}
xref: NCIT:C98876 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:236600 {source="MONDO:equivalentTo"}
xref: Orphanet:2185 {source="MONDO:equivalentTo"}
xref: SCTID:47032000 {source="MONDO:equivalentTo"}
xref: UMLS:C0020256 {source="MONDO:equivalentTo", source="ORDO:2185/e", source="NCIT:C98876", source="Orphanet:2185"}
is_a: MONDO:0001150 {source="MONDO:cjm", source="NCIT:C98876"} ! hydrocephalus
is_a: MONDO:0002320 {source="NCIT:C98876", source="indirect"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2185", source="Orphanet:2185/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0001150 ! hydrocephalus
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:2185"} ! non-syndromic central nervous system malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10010506
property_value: exactMatch http://identifiers.org/snomedct/47032000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020256
property_value: exactMatch NCIT:C98876
property_value: exactMatch Orphanet:2185

[Term]
id: MONDO:0016350
name: hydrocephalus-blue sclerae-nephropathy syndrome
def: "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." [Orphanet:2186]
subset: ordo_malformation_syndrome {source="Orphanet:2186"}
synonym: "Daentl-Townsend-Siegel syndrome" EXACT [Orphanet:2186]
xref: ICD10:Q87.8 {source="ORDO:2186/attributed", source="ORDO:2186/ntbt", source="Orphanet:2186"}
xref: Orphanet:2186 {source="MONDO:equivalentTo"}
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0019721 {source="Orphanet:2186"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931014
property_value: exactMatch Orphanet:2186

[Term]
id: MONDO:0016351
name: anti-HLA hyperimmunization
def: "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." [Orphanet:2194]
subset: gard_rare {source="GARD:0000730"}
subset: ordo_disease {source="Orphanet:2194"}
xref: GARD:0000730 {source="MONDO:equivalentTo"}
xref: Orphanet:2194 {source="MONDO:equivalentTo"}
xref: UMLS:CN201194 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="Orphanet:2194"} ! immune system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201194
property_value: exactMatch Orphanet:2194
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization xsd:anyURI {source="GARD:0000730"}

[Term]
id: MONDO:0016352
name: idiopathic inherited hypercalciuria
comment: Editor note: consider grouping class
subset: ordo_disease {source="Orphanet:2197"}
synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197]
xref: ICD10:E83.5 {source="ORDO:2197/inclusion", source="ORDO:2197/ntbt", source="Orphanet:2197"}
xref: Orphanet:2197 {source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:2197"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:2197"} ! rare renal tubular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543800
property_value: exactMatch Orphanet:2197

[Term]
id: MONDO:0016353
name: palmoplantar keratoderma-spastic paralysis syndrome
subset: ordo_disease {source="Orphanet:2201"}
synonym: "keratoderma palmoplantar spastic paralysis" RELATED [GARD:0003095]
synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT [Orphanet:2201]
synonym: "Powell-Venencie-Gordon syndrome" EXACT [Orphanet:2201]
xref: GARD:0003095 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C538358 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2201 {source="MONDO:equivalentTo"}
is_a: MONDO:0007853 ! palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
is_a: MONDO:0017679 {source="Orphanet:2201"} ! autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931828
property_value: exactMatch http://identifiers.org/mesh/C538358
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835671
property_value: exactMatch Orphanet:2201

[Term]
id: MONDO:0016354
name: xeroderma pigmentosum-Cockayne syndrome complex
def: "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)." [Orphanet:220295]
subset: ordo_disease {source="Orphanet:220295"}
synonym: "XP/CS complex" EXACT [Orphanet:220295]
xref: ICD10:Q82.1 {source="Orphanet:220295", source="ORDO:220295/nd", source="MONDO:directSiblingOf", source="ORDO:220295/attributed"}
xref: ICD10:Q87.1 {source="Orphanet:220295", source="ORDO:220295/nd", source="ORDO:220295/attributed"}
xref: Orphanet:220295 {source="MONDO:equivalentTo"}
xref: UMLS:CN201205 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:220295"} ! syndromic intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:220295"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:220295"} ! progeroid syndrome
is_a: MONDO:0015945 {source="Orphanet:220295"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0015951 {source="Orphanet:220295"} ! hereditary photodermatosis
is_a: MONDO:0019304 {source="Orphanet:220295"} ! rare photodermatosis
is_a: MONDO:0019589 {source="Orphanet:220295"} ! syndromic genetic deafness
is_a: MONDO:0020045 {source="Orphanet:220295"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
is_a: MONDO:0020240 {source="Orphanet:220295"} ! syndromic retinitis pigmentosa
relationship: disease_shares_features_of MONDO:0016006 ! Cockayne syndrome
relationship: disease_shares_features_of MONDO:0019600 ! xeroderma pigmentosum
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201205
property_value: exactMatch Orphanet:220295

[Term]
id: MONDO:0016355
name: semilobar holoprosencephaly
def: "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [Orphanet:220386]
subset: ordo_clinical_subtype {source="Orphanet:220386"}
xref: ICD10:Q04.2 {source="MONDO:subClassOf", source="Orphanet:220386", source="ORDO:220386/attributed", source="ORDO:220386/ntbt"}
xref: Orphanet:220386 {source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="Orphanet:220386"} ! holoprosencephaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751617
property_value: exactMatch Orphanet:220386

[Term]
id: MONDO:0016356
name: diffuse cutaneous systemic sclerosis
def: "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." [Orphanet:220393]
subset: gard_rare {source="GARD:0009751"}
subset: ordo_clinical_subtype {source="Orphanet:220393"}
synonym: "DcSSc" RELATED [GARD:0009751]
synonym: "diffuse cutaneous systemic scleroderma" EXACT [Orphanet:220393]
synonym: "dSSc" EXACT [NCIT:C116791]
synonym: "progressive cutaneous systemic scleroderma" EXACT [Orphanet:220393]
synonym: "progressive cutaneous systemic sclerosis" EXACT [Orphanet:220393]
xref: GARD:0009751 {source="MONDO:equivalentTo"}
xref: ICD10:M34.0 {source="ORDO:220393/ntbt", source="Orphanet:220393"}
xref: NCIT:C116791 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:220393 {source="MONDO:equivalentTo"}
is_a: MONDO:0005100 {source="MONDOLEX:0016356", source="NCIT:C116791", source="Orphanet:220393"} ! systemic sclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1258104
property_value: exactMatch NCIT:C116791
property_value: exactMatch Orphanet:220393
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis xsd:anyURI {source="GARD:0009751"}

[Term]
id: MONDO:0016357
name: dysplastic cortical hyperostosis
subset: gard_rare {source="GARD:0002022"}
subset: ordo_malformation_syndrome {source="Orphanet:2204"}
synonym: "Kozlowski-Tsuruta syndrome" EXACT [Orphanet:2204]
xref: GARD:0002022 {source="MONDO:equivalentTo"}
xref: ICD10:M89.8 {source="ORDO:2204/attributed", source="ORDO:2204/ntbt", source="Orphanet:2204"}
xref: Orphanet:2204 {source="MONDO:equivalentTo"}
xref: UMLS:CN201209 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019703 {source="Orphanet:2204"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201209
property_value: exactMatch Orphanet:2204
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis xsd:anyURI {source="GARD:0002022"}

[Term]
id: MONDO:0016358
name: limited cutaneous systemic sclerosis
def: "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." [Orphanet:220402]
subset: ordo_clinical_subtype {source="Orphanet:220402"}
synonym: "limited cutaneous systemic scleroderma" EXACT [Orphanet:220402]
xref: GARD:0001053 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M34.1 {source="ORDO:220402/ntbt", source="Orphanet:220402"}
xref: Orphanet:220402 {source="MONDO:equivalentTo"}
xref: SCTID:298285004 {source="MONDO:kboom-pr-0.73/0.45/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0005100 {source="MONDOLEX:0016358", source="Orphanet:220402", source="linkedlifedata", source="linkedlifedata/inferred"} ! systemic sclerosis
property_value: exactMatch http://identifiers.org/snomedct/298285004
property_value: exactMatch Orphanet:220402

[Term]
id: MONDO:0016359
name: limited systemic sclerosis
def: "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin." [Orphanet:220407]
subset: ordo_clinical_subtype {source="Orphanet:220407"}
synonym: "progressive systemic sclerosis sine scleroderma" RELATED [GARD:0009749]
synonym: "Scleroderma, sine" RELATED [GARD:0009749]
synonym: "SSC without skin involvement" EXACT [NCIT:C116789]
synonym: "systemic sclerosis sine scleroderma" EXACT [Orphanet:220407]
synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789]
xref: GARD:0009749 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M34.0 {source="Orphanet:220407", source="ORDO:220407/ntbt"}
xref: NCIT:C116789 {source="MONDO:kboom-pr-1.00/0.91/28.78", source="MONDO:equivalentTo"}
xref: Orphanet:220407 {source="MONDO:equivalentTo"}
xref: SCTID:128461001 {source="MONDO:kboom-pr-0.91/0.82/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C1290138 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C116789"}
is_a: MONDO:0005100 {source="MONDOLEX:0016359", source="NCIT:C116789", source="Orphanet:220407", source="linkedlifedata"} ! systemic sclerosis
property_value: exactMatch http://identifiers.org/snomedct/128461001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290138
property_value: exactMatch NCIT:C116789
property_value: exactMatch Orphanet:220407

[Term]
id: MONDO:0016360
name: marcothrombocytopenia with mitral valve insufficiency
def: "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." [Orphanet:220448]
subset: ordo_disease {source="Orphanet:220448"}
xref: ICD10:D69.4 {source="ORDO:220448/attributed", source="ORDO:220448/ntbt", source="Orphanet:220448"}
xref: Orphanet:220448 {source="MONDO:equivalentTo"}
is_a: MONDO:0018795 {source="Orphanet:220448"} ! syndromic constitutional thrombocytopenia
property_value: exactMatch Orphanet:220448

[Term]
id: MONDO:0016361
name: isolated hereditary giant platelet disorder
subset: ordo_group_of_disorders {source="Orphanet:220452"}
synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452]
synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452]
synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452]
xref: ICD10:D69.1 {source="Orphanet:220452", source="ORDO:220452/attributed", source="ORDO:220452/ntbt"}
xref: Orphanet:220452 {source="MONDO:equivalentTo"}
xref: UMLS:CN226911 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018796 {source="Orphanet:220452"} ! isolated constitutional thrombocytopenia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226911
property_value: exactMatch Orphanet:220452

[Term]
id: MONDO:0016362
name: attenuated familial adenomatous polyposis
def: "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." [Orphanet:220460]
subset: ordo_disease {source="Orphanet:220460"}
synonym: "AAPC" EXACT [NCIT:C6729]
synonym: "AFAP" EXACT [NCIT:C6729, Orphanet:220460]
synonym: "attenuated adenomatous polyposis coli" EXACT [NCIT:C6729]
synonym: "attenuated familial adenomatous polyposis" EXACT [NCIT:C6729]
synonym: "attenuated familial polyposis coli" EXACT [Orphanet:220460]
synonym: "attenuated FAP" EXACT [Orphanet:220460]
synonym: "hereditary flat adenoma syndrome" EXACT [NCIT:C6729]
synonym: "HFAS" EXACT [NCIT:C6729]
synonym: "mild form of FAP" RELATED [GARD:0008532]
xref: GARD:0008532 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D12.6 {source="Orphanet:220460", source="ORDO:220460/attributed", source="ORDO:220460/ntbt"}
xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="ORDO:220460/e"}
xref: NCIT:C6729 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:220460 {source="MONDO:equivalentTo"}
xref: SCTID:715866009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.34"}
xref: UMLS:C2674616 {source="NCIT:C6729", source="Orphanet:220460", source="MONDO:equivalentTo", source="ORDO:220460/e"}
is_a: MONDO:0021057 {source="MONDO:cjm"} ! classic or attenuated familial adenomatous polyposis
property_value: exactMatch http://identifiers.org/mesh/C538265
property_value: exactMatch http://identifiers.org/snomedct/715866009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2674616
property_value: exactMatch NCIT:C6729
property_value: exactMatch Orphanet:220460

[Term]
id: MONDO:0016363
name: obsolete rare hereditary hemochromatosis
def: "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." [Orphanet:220489]
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:465508"}
subset: ordo_group_of_disorders {source="Orphanet:220489"}
synonym: "iron overload disease" BROAD [Orphanet:220489]
synonym: "rare hereditary hemochromatosis" EXACT [MONDO:patterns/rare]
xref: Orphanet:220489 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:35400008 {source="MONDO:obsoleteEquivalent", source="EFO:0006513", source="MONDO:kboom-pr-1.00/0.91/29.66"}
property_value: exactMatch http://identifiers.org/snomedct/35400008
property_value: exactMatch Orphanet:220489
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006507
consider: ICD10:E83.1 {source="MONDO:subClassOf", source="ORDO:220489/attributed", source="ORDO:220489/ntbt"}
consider: ICD9:275.01 {source="EFO:0006513"}
consider: NCIT:C84764 {source="EFO:0006513", source="MONDO:superClassOf", source="MONDO:directSiblingOf"}
consider: Orphanet:139498 {source="OMIM:235200"}
consider: UMLS:C0018995 {source="Orphanet:220489"}
consider: UMLS:C0282193 {source="Orphanet:220489"}

[Term]
id: MONDO:0016364
name: Joubert syndrome with ocular defect
def: "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." [Orphanet:220493]
subset: gard_rare
subset: ordo_disease {source="Orphanet:220493"}
synonym: "JBTS3" RELATED [GARD:0010168]
synonym: "Joubert syndrome 3" RELATED [GARD:0010168]
synonym: "Joubert syndrome with ocular anomalies" RELATED [GARD:0010168]
synonym: "Joubert syndrome with retinopathy" EXACT [Orphanet:220493]
synonym: "JS-O" EXACT [Orphanet:220493]
xref: GARD:0010168 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="ORDO:220493/attributed", source="ORDO:220493/ntbt"}
xref: ICD10:Q04.3 {source="Orphanet:220493", source="ORDO:220493/attributed", source="ORDO:220493/ntbt"}
xref: Orphanet:220493 {source="MONDO:equivalentTo"}
xref: SCTID:716998009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274118 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN201217 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015369 {source="Orphanet:220493"} ! Joubert syndrome and related disorders
is_a: MONDO:0017118 {source="MONDO:Entailed", source="Orphanet:220493", source="indirect"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020240 {source="Orphanet:220493"} ! syndromic retinitis pigmentosa
is_a: MONDO:0020253 {source="Orphanet:220493"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020258 {source="Orphanet:220493"} ! oculomotor apraxia or related oculomotor disease
property_value: exactMatch http://identifiers.org/snomedct/716998009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274118
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201217
property_value: exactMatch Orphanet:220493
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies xsd:anyURI {source="GARD:0010168"}

[Term]
id: MONDO:0016365
name: familial primary hyperparathyroidism
def: "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:2207"}
synonym: "hereditary primary hyperparathyroidism (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002837 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E21.0 {source="ORDO:2207/attributed", source="ORDO:2207/ntbt", source="Orphanet:2207"}
xref: Orphanet:2207 {source="MONDO:equivalentTo"}
xref: UMLS:CN201220 {source="MONDO:equivalentTo"}
is_a: MONDO:0010837 ! primary hyperparathyroidism (disease)
is_a: MONDO:0016166 {source="MONDO:Redundant", source="Orphanet:2207"} ! genetic hyperparathyroidism
is_a: MONDO:0021360 {source="MONDO:Entailed", source="Orphanet:2207"} ! tumor of parathyroid gland
intersection_of: MONDO:0010837 ! primary hyperparathyroidism (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201220
property_value: exactMatch Orphanet:2207

[Term]
id: MONDO:0016366
name: maternal phenylketonuria
def: "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." [Orphanet:2209]
subset: ordo_malformation_syndrome {source="Orphanet:2209"}
synonym: "hyperphenylalaninemic embryopathy" EXACT [Orphanet:2209]
synonym: "maternal hyperphenylalaninemia" EXACT [Orphanet:2209]
synonym: "maternal PKU" EXACT [Orphanet:2209]
synonym: "phenylketonuric embryopathy" EXACT [Orphanet:2209]
xref: GARD:0003413 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.1 {source="ORDO:2209/attributed", source="ORDO:2209/ntbt", source="Orphanet:2209"}
xref: Orphanet:2209 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009861 ! phenylketonuria
is_a: MONDO:0015323 {source="Orphanet:2209"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016678 {source="Orphanet:2209"} ! maternal disease-related embryofetopathy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085547
property_value: exactMatch Orphanet:2209

[Term]
id: MONDO:0016367
name: dermatomyositis
def: "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." [Orphanet:221]
subset: gard_rare
subset: ordo_disease {source="Orphanet:221"}
synonym: "adult dermatomyositis" EXACT [GARD:0006263, Orphanet:221]
synonym: "Amyopathic dermatomyositis" RELATED [DOID:10223, MESH:C538250]
synonym: "dermatomyositis" EXACT [MONDO:0005014]
synonym: "dermatopolymyositis" EXACT [DOID:10223]
synonym: "DM" EXACT [Orphanet:221]
synonym: "polymyositis with skin involvement" EXACT [DOID:10223, MTHICD9_2006:710.3]
xref: COHD:80182 {source="MONDO:equivalentTo"}
xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"}
xref: EFO:0000398 {source="MONDO:equivalentTo"}
xref: GARD:0006263 {source="MONDO:equivalentTo"}
xref: ICD10:M33 {source="DOID:10223"}
xref: ICD10:M33.0 {source="ORDO:221/ntbt", source="Orphanet:221"}
xref: ICD10:M33.1 {source="ORDO:221/ntbt", source="Orphanet:221"}
xref: ICD10:M33.9 {source="DOID:10223"}
xref: ICD10:M33.90 {source="DOID:10223"}
xref: ICD9:710.3 {source="EFO:0000398", source="MONDO:equivalentTo", source="i2s", source="DOID:10223"}
xref: MedDRA:10012503 {source="ORDO:221/e", source="Orphanet:221"}
xref: MESH:D003882 {source="EFO:0000398", source="MONDO:equivalentTo", source="ORDO:221/e", source="Orphanet:221", source="DOID:10223"}
xref: NCIT:C26744 {source="MONDO:kboom-pr-0.91/0.79/0.43", source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"}
xref: Orphanet:221 {source="MONDO:equivalentTo", source="GARD:0006263"}
xref: SCTID:396230008 {source="EFO:0000398", source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo", source="DOID:10223"}
xref: UMLS:C0011633 {source="MONDO:equivalentTo", source="NCIT:C26744", source="ORDO:221/e", source="Orphanet:221", source="DOID:10223"}
is_a: MONDO:0002406 ! dermatitis
is_a: MONDO:0003900 {source="MESH:D003882"} ! connective tissue disease
is_a: MONDO:0017368 {source="Orphanet:221"} ! systemic disease with skin involvement
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019127 {source="MESH:D003882", source="MONDOLEX:0016367", source="linkedlifedata"} ! polymyositis
property_value: closeMatch http://identifiers.org/snomedct/156456005
property_value: closeMatch http://identifiers.org/snomedct/201445002
property_value: closeMatch http://identifiers.org/snomedct/201448000
property_value: closeMatch http://identifiers.org/snomedct/203795006
property_value: closeMatch http://identifiers.org/snomedct/38826005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221056
property_value: exactMatch DOID:10223
property_value: exactMatch http://identifiers.org/meddra/10012503
property_value: exactMatch http://identifiers.org/mesh/D003882
property_value: exactMatch http://identifiers.org/snomedct/396230008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011633
property_value: exactMatch NCIT:C26744
property_value: exactMatch Orphanet:221

[Term]
id: MONDO:0016368
name: Rothmund-Thomson syndrome type 1
alt_id: MONDO:0032840
def: "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." [Orphanet:221008]
subset: ordo_clinical_subtype {source="Orphanet:221008"}
synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625]
synonym: "poikiloderma of Rothmund-Thomson type 1" EXACT [Orphanet:221008]
synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1" RELATED [OMIM:618625]
synonym: "RTS1" EXACT [Orphanet:221008]
xref: ICD10:Q82.8 {source="ORDO:221008/attributed", source="ORDO:221008/ntbt", source="Orphanet:221008"}
xref: OMIM:618625 {source="MONDO:equivalentTo"}
xref: Orphanet:221008 {source="OMIM:618625", source="MONDO:equivalentTo"}
xref: UMLS:CN201233 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010002 {source="OMIM:618625", source="Orphanet:221008"} ! Rothmund-Thomson syndrome
property_value: exactMatch http://identifiers.org/omim/618625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201233
property_value: exactMatch Orphanet:221008

[Term]
id: MONDO:0016369
name: Rothmund-Thomson syndrome type 2
def: "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." [Orphanet:221016]
subset: ordo_clinical_subtype {source="Orphanet:221016"}
synonym: "poikiloderma of Rothmund-Thomson type 2" EXACT [Orphanet:221016]
synonym: "RTS2" EXACT [Orphanet:221016]
xref: ICD10:Q82.8 {source="ORDO:221016/attributed", source="ORDO:221016/ntbt", source="Orphanet:221016"}
xref: OMIM:268400 {source="ORDO:2909/e", source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo"}
xref: Orphanet:221016 {source="MONDO:equivalentTo"}
xref: UMLS:CN201234 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010002 {source="Orphanet:221016"} ! Rothmund-Thomson syndrome
is_a: MONDO:0015945 {source="Orphanet:221016"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0020273 {source="Orphanet:221016"} ! disease with potential neoplastic degeneration associated with ocular features
property_value: exactMatch http://identifiers.org/omim/268400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201234
property_value: exactMatch Orphanet:221016

[Term]
id: MONDO:0016370
name: Marchiafava-Bignami disease
def: "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis , aphasia , abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." [https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease]
subset: gard_rare {source="GARD:0006971"}
subset: ordo_disease {source="Orphanet:221074"}
synonym: "acute Marchiafava-Bignami disease" NARROW [GARD:0006971]
synonym: "chronic Marchiafava-Bignami syndrome" NARROW [GARD:0006971]
synonym: "Marchiafava Bignami disease" EXACT [GARD:0006971]
synonym: "MBD" RELATED [GARD:0006971]
synonym: "metabolic bone disease" EXACT [NCIT:C97045]
synonym: "metabolic bone disorder" EXACT [NCIT:C97045]
xref: EFO:1001809 {source="MONDO:equivalentTo"}
xref: GARD:0006971 {source="MONDO:equivalentTo"}
xref: ICD10:G37.1 {source="ORDO:221074/e", source="Orphanet:221074"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10026828 {source="ORDO:221074/e", source="Orphanet:221074"}
xref: MESH:D054319 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:221074/e", source="Orphanet:221074"}
xref: NCIT:C97045 {source="MONDO:equivalentTo"}
xref: Orphanet:221074 {source="MONDO:equivalentTo"}
xref: SCTID:386766007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238265 {source="MONDO:equivalentTo", source="ORDO:221074/e", source="Orphanet:221074"}
is_a: MONDO:0005559 {source="Orphanet:221074"} ! neurodegenerative disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015918"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10026828
property_value: exactMatch http://identifiers.org/mesh/D054319
property_value: exactMatch http://identifiers.org/snomedct/386766007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238265
property_value: exactMatch NCIT:C97045
property_value: exactMatch Orphanet:221074
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease xsd:anyURI {source="GARD:0006971"}

[Term]
id: MONDO:0016371
name: combined hyperactive dysfunction syndrome of the cranial nerves
subset: ordo_disease {source="Orphanet:221078"}
xref: Orphanet:221078 {source="MONDO:equivalentTo"}
xref: UMLS:CN201241 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016374 {source="Orphanet:221078"} ! cranial neuralgia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201241
property_value: exactMatch Orphanet:221078

[Term]
id: MONDO:0016372
name: glossopharyngeal neuralgia
def: "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." [https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia]
subset: gard_rare {source="GARD:0006519"}
subset: ordo_disease {source="Orphanet:221098"}
synonym: "glossopharyngeal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM_2006:352.1]
synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098]
synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
xref: COHD:380100 {source="MONDO:equivalentTo"}
xref: DOID:14423 {source="MONDO:equivalentTo"}
xref: GARD:0006519 {source="MONDO:equivalentTo"}
xref: ICD10:G52.1 {source="Orphanet:221098", source="DOID:14423", source="ORDO:221098/ntbt"}
xref: ICD9:352.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14423"}
xref: MedDRA:10018391 {source="Orphanet:221098", source="ORDO:221098/e"}
xref: Orphanet:221098 {source="MONDO:equivalentTo"}
xref: SCTID:43763009 {source="MONDO:equivalentTo", source="DOID:14423", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0154731 {source="Orphanet:221098", source="MONDO:equivalentTo", source="DOID:14423", source="ORDO:221098/e"}
is_a: MONDO:0002639 {source="DOID:14423", source="MONDO:Redundant", source="linkedlifedata"} ! glossopharyngeal nerve disease
is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221098"} ! cranial neuralgia
property_value: closeMatch http://identifiers.org/mesh/D020435
property_value: exactMatch DOID:14423
property_value: exactMatch http://identifiers.org/meddra/10018391
property_value: exactMatch http://identifiers.org/snomedct/43763009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154731
property_value: exactMatch Orphanet:221098
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia xsd:anyURI {source="GARD:0006519"}

[Term]
id: MONDO:0016373
name: isolated facial myokymia
comment: Editor note: todo check MESH
subset: ordo_disease {source="Orphanet:221106"}
xref: ICD10:G51.4 {source="MONDO:equivalentTo", source="ORDO:221106/e", source="Orphanet:221106"}
xref: Orphanet:221106 {source="MONDO:equivalentTo"}
is_a: MONDO:0016375 {source="Orphanet:221106"} ! acquired peripheral movement disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270871
property_value: exactMatch Orphanet:221106

[Term]
id: MONDO:0016374
name: cranial neuralgia
def: "A neuralgia that involves the cranial neuron projection bundle." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:221109"}
synonym: "cranial neuron projection bundle neuralgia" EXACT [MONDO:patterns/location]
synonym: "facial neuralgia" EXACT [Orphanet:221109]
synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern]
xref: Orphanet:221109 {source="MONDO:equivalentTo"}
xref: SCTID:23096007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.38"}
xref: UMLS:C0010269 {source="MONDO:equivalentTo", source="Orphanet:221109", source="ORDO:221109/e"}
is_a: MONDO:0003569 {source="MONDO:Redundant", source="linkedlifedata"} ! cranial nerve neuropathy
is_a: MONDO:0015923 {source="Orphanet:221109"} ! acquired peripheral neuropathy
is_a: MONDO:0021667 ! neuralgia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015467
property_value: exactMatch http://identifiers.org/snomedct/23096007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010269
property_value: exactMatch Orphanet:221109

[Term]
id: MONDO:0016375
name: acquired peripheral movement disorder
subset: ordo_group_of_disorders {source="Orphanet:221114"}
xref: Orphanet:221114 {source="MONDO:equivalentTo"}
xref: UMLS:CN226913 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:221114"} ! acquired peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226913
property_value: exactMatch Orphanet:221114

[Term]
id: MONDO:0016376
name: confetti-like macular atrophy
subset: ordo_disease {source="Orphanet:221142"}
xref: ICD10:L90.8 {source="Orphanet:221142", source="ORDO:221142/ntbt"}
xref: Orphanet:221142 {source="MONDO:equivalentTo"}
is_a: MONDO:0016435 {source="Orphanet:221142"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
property_value: exactMatch Orphanet:221142

[Term]
id: MONDO:0016377
name: Pitt-Hopkins-like syndrome
def: "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated." [GARD:0011967]
subset: gard_rare {source="GARD:0011967"}
subset: ordo_disease {source="Orphanet:221150"}
synonym: "PTHSL" EXACT [MONDO:cjm]
xref: GARD:0011967 {source="MONDO:equivalentTo"}
xref: Orphanet:221150 {source="MONDO:equivalentTo"}
xref: UMLS:CN239445 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221150", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:221150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:221150"} ! monogenic epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239445
property_value: exactMatch Orphanet:221150
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome xsd:anyURI {source="GARD:0011967"}

[Term]
id: MONDO:0016378
name: maternal hyperthermia induced birth defects
def: "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached." [Orphanet:2216]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2216"}
synonym: "hyperthermia induced defects" RELATED [GARD:0002856]
xref: GARD:0002856 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:2216/ntbt", source="Orphanet:2216"}
xref: Orphanet:2216 {source="MONDO:equivalentTo", source="GARD:0002856"}
xref: SCTID:765138001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265377 {source="MONDO:equivalentTo", source="GARD:0002856"}
is_a: MONDO:0015323 {source="Orphanet:2216"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016678 {source="Orphanet:2216"} ! maternal disease-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/765138001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265377
property_value: exactMatch Orphanet:2216
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects xsd:anyURI {source="GARD:0002856"}

[Term]
id: MONDO:0016379
name: erosive pustular dermatosis of the scalp
def: "70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." [Orphanet:222]
subset: gard_rare {source="GARD:0002188"}
subset: ordo_disease {source="Orphanet:222"}
xref: GARD:0002188 {source="MONDO:equivalentTo"}
xref: Orphanet:222 {source="MONDO:equivalentTo"}
xref: SCTID:238733003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0406464 {source="MONDO:equivalentTo", source="ORDO:222/e", source="Orphanet:222"}
is_a: MONDO:0019546 {source="Orphanet:222"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/snomedct/238733003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406464
property_value: exactMatch Orphanet:222
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp xsd:anyURI {source="GARD:0002188"}

[Term]
id: MONDO:0016380
name: acquired hypertrichosis lanuginosa
def: "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." [Orphanet:2221]
subset: gard_rare {source="GARD:0002864"}
subset: ordo_disease {source="Orphanet:2221"}
synonym: "hypertrichosis lanuginosa, acquired" RELATED [GARD:0002864]
xref: GARD:0002864 {source="MONDO:equivalentTo"}
xref: ICD10:L68.1 {source="Orphanet:2221", source="ORDO:2221/e", source="MONDO:equivalentTo"}
xref: Orphanet:2221 {source="MONDO:equivalentTo"}
xref: SCTID:25967007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.59"}
xref: UMLS:CN201274 {source="MONDO:equivalentTo"}
is_a: MONDO:0019280 {source="Orphanet:2221", source="linkedlifedata"} ! hypertrichosis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343072
property_value: exactMatch http://identifiers.org/snomedct/25967007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201274
property_value: exactMatch Orphanet:2221
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired xsd:anyURI {source="GARD:0002864"}

[Term]
id: MONDO:0016381
name: hypertrichosis lanuginosa congenita
def: "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." [Orphanet:2222]
subset: ordo_disease {source="Orphanet:2222"}
synonym: "congenital hypertrichosis lanuginosa" RELATED [GARD:0002865]
synonym: "hypertrichosis lanuginosa congenita" EXACT [OMIM:145700]
synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865]
synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222]
xref: GARD:0002865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q84.2 {source="Orphanet:2222", source="ORDO:2222/attributed", source="ORDO:2222/ntbt"}
xref: MESH:C538389 {source="ORDO:2222/e", source="Orphanet:2222", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:145700 {source="Orphanet:2222", source="MONDO:equivalentTo", source="ORDO:2222/btnt"}
xref: Orphanet:2222 {source="MONDO:equivalentTo", source="OMIM:145700"}
xref: SCTID:201163007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0019280 {source="MESH:C538389", source="Orphanet:2222", source="linkedlifedata"} ! hypertrichosis (disease)
is_a: MONDO:0019287 {source="Orphanet:2222"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0020185 {source="Orphanet:2222"} ! obsolete eyebrow/eyelashes hypertrichosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936812
property_value: exactMatch http://identifiers.org/mesh/C538389
property_value: exactMatch http://identifiers.org/omim/145700
property_value: exactMatch http://identifiers.org/snomedct/201163007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235864
property_value: exactMatch Orphanet:2222

[Term]
id: MONDO:0016382
name: hereditary poikiloderma
subset: ordo_group_of_disorders {source="Orphanet:222628"}
xref: Orphanet:222628 {source="MONDO:equivalentTo"}
is_a: MONDO:0019268 {source="Orphanet:222628"} ! epidermal disease
property_value: exactMatch Orphanet:222628

[Term]
id: MONDO:0016383
name: nephrogenic diabetes insipidus
def: "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children." [Orphanet:223]
subset: ordo_disease {source="Orphanet:223"}
synonym: "ADH resistant diabetes insipidus" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic type 1" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic X-linked" RELATED [GARD:0007178]
synonym: "vasopressin-resistant diabetes insipidus" RELATED [DOID:12387]
xref: COHD:438476 {source="MONDO:equivalentTo"}
xref: DOID:12387 {source="MONDO:equivalentTo"}
xref: GARD:0007178 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N25.1 {source="MONDO:equivalentTo", source="ORDO:223/specific", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"}
xref: ICD9:588.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12387"}
xref: MedDRA:10029147 {source="ORDO:223/e", source="Orphanet:223"}
xref: MESH:D018500 {source="MONDO:equivalentTo", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"}
xref: NCIT:C84919 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:12387"}
xref: Orphanet:223 {source="MONDO:equivalentTo", source="DOID:12387"}
xref: SCTID:111395007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.74/1.72", source="DOID:12387"}
xref: UMLS:C0162283 {source="MONDO:equivalentTo", source="NCIT:C84919", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"}
is_a: MONDO:0001343 {source="DOID:12387", source="ICD10:N25.1"} ! impaired renal function disease
is_a: MONDO:0004782 {source="MESH:D018500", source="NCIT:C84919", source="linkedlifedata"} ! diabetes insipidus
is_a: MONDO:0015962 {source="Orphanet:223"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:223"} ! rare renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/123294004
property_value: exactMatch DOID:12387
property_value: exactMatch http://identifiers.org/meddra/10029147
property_value: exactMatch http://identifiers.org/mesh/D018500
property_value: exactMatch http://identifiers.org/snomedct/111395007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162283
property_value: exactMatch NCIT:C84919
property_value: exactMatch Orphanet:223

[Term]
id: MONDO:0016384
name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." [Orphanet:2230]
subset: ordo_disease {source="Orphanet:2230"}
synonym: "Salti-Salem syndrome" EXACT [Orphanet:2230]
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:2230/attributed", source="ORDO:2230/ntbt", source="Orphanet:2230"}
xref: Orphanet:2230 {source="MONDO:equivalentTo"}
xref: SCTID:721842008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.55"}
xref: UMLS:CN201280 {source="MONDO:equivalentTo"}
is_a: MONDO:0015890 {source="Orphanet:2230"} ! rare disorder with congenital hypogonadotropic hypogonadism
property_value: exactMatch http://identifiers.org/snomedct/721842008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201280
property_value: exactMatch Orphanet:2230

[Term]
id: MONDO:0016385
name: hypogonadism-mitral valve prolapse-intellectual disability syndrome
def: "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." [Orphanet:2233]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2233"}
synonym: "Cantalamessa Baldini Ambrosi syndrome" RELATED [GARD:0001078]
synonym: "Cantalamessa-Baldini-Ambrosi syndrome" EXACT [Orphanet:2233]
synonym: "primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" RELATED [GARD:0001078]
xref: GARD:0001078 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2233", source="ORDO:2233/attributed", source="ORDO:2233/ntbt"}
xref: MESH:C537981 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2233 {source="MONDO:equivalentTo"}
xref: SCTID:721841001 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C2931685 {source="GARD:0001078", source="Orphanet:2233", source="MONDO:equivalentTo"}
is_a: MONDO:0018388 {source="Orphanet:181441"} ! rare male infertility due to testicular endocrine disorder
property_value: exactMatch http://identifiers.org/mesh/C537981
property_value: exactMatch http://identifiers.org/snomedct/721841001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931685
property_value: exactMatch Orphanet:2233

[Term]
id: MONDO:0016386
name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents." [Orphanet:2235]
subset: ordo_disease {source="Orphanet:2235"}
synonym: "Chang-Davidson-Carlson syndrome" EXACT [Orphanet:2235]
xref: MESH:C538075 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2235 {source="MONDO:equivalentTo"}
xref: UMLS:C2931722 {source="ORDO:2235/e", source="Orphanet:2235", source="MONDO:equivalentTo"}
is_a: MONDO:0015890 {source="Orphanet:2235"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0020240 {source="Orphanet:2235"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/mesh/C538075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931722
property_value: exactMatch Orphanet:2235

[Term]
id: MONDO:0016387
name: mitochondrial oxidative phosphorylation disorder
subset: ordo_group_of_disorders {source="Orphanet:223713"}
synonym: "OXPHOS disease" EXACT [Orphanet:223713]
synonym: "OXPHOS system deficiency" EXACT [doi:10.1136/jmg.2006.042168]
xref: Orphanet:223713 {source="MONDO:equivalentTo"}
xref: UMLS:CN201288 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:223713"} ! inborn mitochondrial metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201288
property_value: exactMatch Orphanet:223713

[Term]
id: MONDO:0016388
name: obsolete bone sarcoma
is_obsolete: true
replaced_by: MONDO:0021054

[Term]
id: MONDO:0016389
name: obsolete lymphoma
is_obsolete: true
replaced_by: MONDO:0005062

[Term]
id: MONDO:0016390
name: familial isolated hypoparathyroidism
def: "Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." [Orphanet:2238]
subset: ordo_disease {source="Orphanet:2238"}
synonym: "FIH" EXACT []
synonym: "hypoparathyroidism familial isolated" EXACT [GARD:0002910]
synonym: "hypoparathyroidism, familial" EXACT [OMIMPS:146200]
synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200]
synonym: "hypoparathyroidism, familial isolated; FIH" EXACT [MONDOLEX:0007796, OMIM:146200]
xref: GARD:0002910 {source="MONDO:equivalentTo"}
xref: ICD10:E20.8 {source="ORDO:2238/attributed", source="ORDO:2238/ntbt", source="Orphanet:2238"}
xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="ORDO:2238/e"}
xref: OMIMPS:146200 {source="MONDO:equivalentTo"}
xref: Orphanet:2238 {source="MONDO:equivalentTo"}
xref: SCTID:725036000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832648 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:2238", source="ORDO:2238/e"}
is_a: MONDO:0016165 {source="Orphanet:2238"} ! genetic hypoparathyroidism
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0020280 {source="Orphanet:2238"} ! metabolic disease with cataract
property_value: exactMatch http://identifiers.org/mesh/C537156
property_value: exactMatch http://identifiers.org/snomedct/725036000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832648
property_value: exactMatch Orphanet:2238

[Term]
id: MONDO:0016391
name: neonatal diabetes mellitus
def: "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." [Orphanet:224]
subset: ordo_group_of_disorders {source="Orphanet:224"}
synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248]
synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717]
synonym: "NDM" EXACT [Orphanet:224]
xref: COHD:193323 {source="MONDO:equivalentTo"}
xref: DOID:11717 {source="MONDO:equivalentTo"}
xref: ICD10:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="DOID:11717", source="ORDO:224/specific", source="ORDO:224/e"}
xref: ICD9:775.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11717"}
xref: MedDRA:10028933 {source="Orphanet:224", source="ORDO:224/e"}
xref: NCIT:C99248 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11717"}
xref: Orphanet:224 {source="MONDO:equivalentTo"}
xref: SCTID:49817004 {source="MONDO:equivalentTo", source="DOID:11717", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0158981 {source="Orphanet:224", source="MONDO:equivalentTo", source="DOID:11717", source="ORDO:224/e", source="NCIT:C99248"}
is_a: MONDO:0005015 {source="Orphanet:224"} ! diabetes mellitus (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015967"} ! rare
property_value: exactMatch DOID:11717
property_value: exactMatch http://identifiers.org/meddra/10028933
property_value: exactMatch http://identifiers.org/snomedct/49817004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158981
property_value: exactMatch NCIT:C99248
property_value: exactMatch Orphanet:224

[Term]
id: MONDO:0016392
name: cerebellar hypoplasia-tapetoretinal degeneration syndrome
def: "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." [Orphanet:2246]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2246"}
synonym: "cerebellar hypoplasia tapetoretinal degeneration" RELATED [GARD:0001196]
xref: GARD:0001196 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:2246", source="ORDO:2246/ntbt"}
xref: Orphanet:2246 {source="MONDO:equivalentTo", source="GARD:0001196"}
is_a: MONDO:0017118 {source="Orphanet:2246"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch Orphanet:2246
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration xsd:anyURI {source="GARD:0001196"}

[Term]
id: MONDO:0016393
name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." [Orphanet:2250]
subset: ordo_disease {source="Orphanet:2250"}
synonym: "Bosma arhinia-microphthalmia syndrome" EXACT [Orphanet:2250]
synonym: "Bosma-Henkin-Christiansen syndrome" EXACT [Orphanet:2250]
xref: ICD10:Q87.8 {source="Orphanet:2250", source="ORDO:2250/attributed", source="ORDO:2250/ntbt"}
xref: Orphanet:2250 {source="MONDO:equivalentTo"}
xref: UMLS:CN201299 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011323 ! arhinia, choanal atresia, and microphthalmia
is_a: MONDO:0015890 {source="Orphanet:2250"} ! rare disorder with congenital hypogonadotropic hypogonadism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201299
property_value: exactMatch Orphanet:2250

[Term]
id: MONDO:0016394
name: sporadic infantile bilateral striatal necrosis
def: "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225147]
subset: ordo_clinical_subtype {source="Orphanet:225147"}
synonym: "ABSN" EXACT [Orphanet:225147]
synonym: "acute bilateral striatal necrosis" EXACT [Orphanet:225147]
synonym: "sporadic IBSN" EXACT [Orphanet:225147]
synonym: "sporadic infantile striatonigral degeneration" EXACT [Orphanet:225147]
synonym: "sporadic infantile striatonigral necrosis" EXACT [Orphanet:225147]
xref: ICD10:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="ORDO:225147/attributed", source="ORDO:225147/ntbt"}
xref: Orphanet:225147 {source="MONDO:equivalentTo"}
is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal necrosis
property_value: exactMatch Orphanet:225147

[Term]
id: MONDO:0016395
name: foveal hypoplasia-presenile cataract syndrome
subset: ordo_disease {source="Orphanet:2253"}
synonym: "O'Donnell-Pappas syndrome" EXACT [Orphanet:2253]
xref: ICD10:H26.0 {source="Orphanet:2253", source="ORDO:2253/attributed", source="ORDO:2253/ntbt"}
xref: MESH:C537858 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2253 {source="MONDO:equivalentTo"}
xref: UMLS:C2931644 {source="Orphanet:2253", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0020244 {source="Orphanet:2253"} ! unclassified primitive or secondary maculopathy
property_value: exactMatch http://identifiers.org/mesh/C537858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931644
property_value: exactMatch Orphanet:2253

[Term]
id: MONDO:0016396
name: pontocerebellar hypoplasia type 1
def: "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." [Orphanet:2254]
subset: ordo_malformation_syndrome {source="Orphanet:2254"}
synonym: "Norman disease" EXACT [Orphanet:2254]
synonym: "PCH1" EXACT [Orphanet:2254]
xref: GARD:0010704 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="Orphanet:2254", source="ORDO:2254/attributed", source="ORDO:2254/ntbt"}
xref: MESH:C548069 {source="Orphanet:2254", source="ORDO:2254/e", source="MONDO:equivalentTo"}
xref: Orphanet:2254 {source="MONDO:equivalentTo"}
xref: SCTID:718610008 {source="MONDO:kboom-pr-1.00/0.79/8.20", source="MONDO:equivalentTo"}
xref: UMLS:C1843504 {source="Orphanet:2254", source="ORDO:2254/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016131 {source="Orphanet:2254"} ! spinal muscular atrophy associated with central nervous system anomaly
is_a: MONDO:0020135 {source="Orphanet:2254", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch http://identifiers.org/mesh/C548069
property_value: exactMatch http://identifiers.org/snomedct/718610008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843504
property_value: exactMatch Orphanet:2254

[Term]
id: MONDO:0016397
name: lysosomal disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225681"}
xref: Orphanet:225681 {source="MONDO:equivalentTo"}
xref: UMLS:CN201328 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002561 ! lysosomal storage disease
is_a: MONDO:0015656 {source="MONDO:Redundant", source="Orphanet:225681"} ! metabolic disease with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201328
property_value: exactMatch Orphanet:225681

[Term]
id: MONDO:0016398
name: peroxisomal disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225686"}
xref: Orphanet:225686 {source="MONDO:equivalentTo"}
xref: UMLS:CN201329 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225686"} ! metabolic disease with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201329
property_value: exactMatch Orphanet:225686

[Term]
id: MONDO:0016399
name: amino acid or protein metabolism disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225689"}
xref: Orphanet:225689 {source="MONDO:equivalentTo"}
xref: UMLS:CN201330 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225689"} ! metabolic disease with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201330
property_value: exactMatch Orphanet:225689

[Term]
id: MONDO:0016400
name: metal transport or utilization disorder with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225692"}
xref: Orphanet:225692 {source="MONDO:equivalentTo"}
xref: UMLS:CN226914 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225692"} ! metabolic disease with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226914
property_value: exactMatch Orphanet:225692

[Term]
id: MONDO:0016401
name: energy metabolism disorder with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225696"}
xref: Orphanet:225696 {source="MONDO:equivalentTo"}
xref: UMLS:CN226915 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="MONDO:Redundant", source="Orphanet:225696"} ! metabolic disease with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019243 {source="MONDO:cjm"} ! inborn disorder of energy metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226915
property_value: exactMatch Orphanet:225696

[Term]
id: MONDO:0016402
name: mitochondrial disease with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225700"}
xref: Orphanet:225700 {source="MONDO:equivalentTo"}
xref: UMLS:CN201331 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004069 {source="MONDO:cjm"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016401 {source="Orphanet:225700"} ! energy metabolism disorder with epilepsy
is_a: MONDO:0100033 {comment="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201331
property_value: exactMatch Orphanet:225700

[Term]
id: MONDO:0016403
name: mitochondrial disease with peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:225703"}
xref: Orphanet:225703 {source="MONDO:equivalentTo"}
xref: UMLS:CN201332 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004069 {source="MONDO:cjm"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016133 {source="Orphanet:225703"} ! rare hereditary metabolic disease with peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201332
property_value: exactMatch Orphanet:225703

[Term]
id: MONDO:0016404
name: metabolic neurotransmission anomaly with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225707"}
xref: Orphanet:225707 {source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225707"} ! metabolic disease with epilepsy
property_value: exactMatch Orphanet:225707

[Term]
id: MONDO:0016405
name: sterol metabolism disorder with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:225710"}
xref: Orphanet:225710 {source="MONDO:equivalentTo"}
xref: UMLS:CN226918 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225710"} ! metabolic disease with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019256 {source="MONDO:cjm"} ! sterol metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226918
property_value: exactMatch Orphanet:225710

[Term]
id: MONDO:0016406
name: other metabolic disease with epilepsy
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:225713"}
xref: Orphanet:225713 {source="MONDO:equivalentTo"}
xref: UMLS:CN201333 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="Orphanet:225713"} ! metabolic disease with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201333
property_value: exactMatch Orphanet:225713

[Term]
id: MONDO:0016407
name: oligomeganephronia
def: "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." [Orphanet:2260]
subset: ordo_morphological_anomaly {source="Orphanet:2260"}
synonym: "Oligomeganephronic renal hypoplasia" EXACT [DOID:0111142, Orphanet:2260]
xref: DOID:0111142 {source="MONDO:equivalentTo"}
xref: GARD:0004066 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:4066 {source="DOID:0111142"}
xref: ICD10:Q60.4 {source="ORDO:2260/ntbt", source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260"}
xref: NCIT:C123202 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"}
xref: SCTID:18417009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
xref: UMLS:C0431694 {source="MONDO:equivalentTo", source="NCIT:C123202"}
is_a: MONDO:0019720 {source="Orphanet:2260"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0111142
property_value: exactMatch http://identifiers.org/snomedct/18417009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431694
property_value: exactMatch NCIT:C123202
property_value: exactMatch Orphanet:2260

[Term]
id: MONDO:0016408
name: permanent congenital hypothyroidism
def: "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." [Orphanet:226292]
subset: ordo_group_of_disorders {source="Orphanet:226292"}
xref: ICD10:E03.0 {source="ORDO:226292/btnt", source="Orphanet:226292", source="ORDO:226292/specific"}
xref: ICD10:E03.1 {source="ORDO:226292/btnt", source="Orphanet:226292", source="ORDO:226292/specific"}
xref: Orphanet:226292 {source="MONDO:equivalentTo"}
is_a: MONDO:0015514 {source="Orphanet:226292"} ! genetic endocrine growth disease
is_a: MONDO:0018612 {source="Orphanet:226292"} ! congenital hypothyroidism
property_value: exactMatch Orphanet:226292

[Term]
id: MONDO:0016409
name: primary congenital hypothyroidism
def: "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." [Orphanet:226295]
subset: ordo_group_of_disorders {source="Orphanet:226295"}
xref: ICD10:E03.0 {source="ORDO:226295/attributed", source="ORDO:226295/ntbt", source="Orphanet:226295"}
xref: ICD10:E03.1 {source="ORDO:226295/attributed", source="ORDO:226295/ntbt", source="Orphanet:226295"}
xref: Orphanet:226295 {source="MONDO:equivalentTo"}
is_a: MONDO:0016408 {source="Orphanet:226295"} ! permanent congenital hypothyroidism
property_value: exactMatch Orphanet:226295

[Term]
id: MONDO:0016410
name: central congenital hypothyroidism
def: "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." [Orphanet:226298]
subset: gard_rare {source="GARD:0012280"}
subset: ordo_group_of_disorders {source="Orphanet:226298"}
synonym: "central hypothyroidism" EXACT [NCIT:C113144]
synonym: "hypothalamic-pituitary hypothyroidism" EXACT [NCIT:C113144]
synonym: "secondary hypothyroidism" EXACT [Orphanet:226298]
synonym: "thyroid stimulating hormone deficiency" EXACT [NCIT:C113144]
synonym: "thyrotropin deficiency" EXACT [NCIT:C113144]
synonym: "TSH deficiency" EXACT [NCIT:C113144]
xref: GARD:0012280 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="Orphanet:226298", source="ORDO:226298/attributed", source="ORDO:226298/ntbt"}
xref: NCIT:C113144 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.47"}
xref: Orphanet:226298 {source="MONDO:equivalentTo"}
is_a: MONDO:0016408 {source="Orphanet:226298"} ! permanent congenital hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271801
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665349
property_value: exactMatch NCIT:C113144
property_value: exactMatch Orphanet:226298
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism xsd:anyURI {source="GARD:0012280"}

[Term]
id: MONDO:0016411
name: hypothyroidism due to deficient transcription factors involved in pituitary development or function
def: "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." [Orphanet:226307]
subset: ordo_disease {source="Orphanet:226307"}
xref: ICD10:E03.1 {source="ORDO:226307/attributed", source="ORDO:226307/ntbt", source="Orphanet:226307"}
xref: Orphanet:226307 {source="MONDO:equivalentTo"}
xref: UMLS:CN201345 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016410 {source="Orphanet:226307"} ! central congenital hypothyroidism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201345
property_value: exactMatch Orphanet:226307

[Term]
id: MONDO:0016412
name: peripheral hypothyroidism
def: "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." [Orphanet:226310]
subset: ordo_group_of_disorders {source="Orphanet:226310"}
xref: Orphanet:226310 {source="MONDO:equivalentTo"}
is_a: MONDO:0016408 {source="Orphanet:226310"} ! permanent congenital hypothyroidism
property_value: exactMatch Orphanet:226310

[Term]
id: MONDO:0016413
name: congenital hypothyroidism due to maternal intake of antithyroid drugs
subset: ordo_disease {source="Orphanet:226313"}
xref: ICD10:P72.2 {source="Orphanet:226313", source="ORDO:226313/ntbt"}
xref: Orphanet:226313 {source="MONDO:equivalentTo"}
is_a: MONDO:0016555 {source="Orphanet:226313"} ! transient congenital hypothyroidism due to maternal factor
property_value: exactMatch Orphanet:226313

[Term]
id: MONDO:0016414
name: hypotrichosis-intellectual disability, Lopes type
def: "Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." [Orphanet:2266]
subset: ordo_disease {source="Orphanet:2266"}
synonym: "Lopes-Marques de Faria syndrome" EXACT [Orphanet:2266]
xref: Orphanet:2266 {source="MONDO:equivalentTo"}
xref: UMLS:CN201347 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:2266"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201347
property_value: exactMatch Orphanet:2266

[Term]
id: MONDO:0016415
name: obsolete immunodeficiency-centromeric instability-facial anomalies syndrome
is_obsolete: true
replaced_by: MONDO:0000133

[Term]
id: MONDO:0016416
name: diphallia
subset: gard_rare {source="GARD:0001872"}
subset: ordo_morphological_anomaly {source="Orphanet:227"}
synonym: "Diphallus" RELATED [GARD:0001872]
xref: GARD:0001872 {source="MONDO:equivalentTo"}
xref: ICD10:Q55.6 {source="Orphanet:227", source="ORDO:227/ntbt"}
xref: ICD9:752.69 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:227 {source="MONDO:equivalentTo"}
xref: SCTID:253851000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
is_a: MONDO:0015933 {source="Orphanet:227"} ! non-syndromic urogenital tract malformation of male
property_value: exactMatch http://identifiers.org/snomedct/253851000
property_value: exactMatch Orphanet:227
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1872/diphallia xsd:anyURI {source="GARD:0001872"}

[Term]
id: MONDO:0016417
name: congenital ichthyosis-microcephalus-tetraplegia syndrome
subset: ordo_disease {source="Orphanet:2271"}
synonym: "congenital ichthyosis-microcephalus-quadriplegia syndrome" EXACT [Orphanet:2271]
xref: ICD10:Q87.8 {source="ORDO:2271/attributed", source="ORDO:2271/ntbt", source="Orphanet:2271"}
xref: Orphanet:2271 {source="MONDO:equivalentTo"}
is_a: MONDO:0017272 {source="Orphanet:2271"} ! autosomal ichthyosis syndrome with prominent neurologics signs
property_value: exactMatch Orphanet:2271

[Term]
id: MONDO:0016418
name: multiple system atrophy, cerebellar type
def: "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." [Orphanet:227510]
subset: ordo_clinical_subtype {source="Orphanet:227510"}
synonym: "MSA, cerebellar type" EXACT [Orphanet:227510]
synonym: "MSA-c" EXACT [Orphanet:227510]
synonym: "sporadic olivopontocerebellar atrophy type 1" EXACT [Orphanet:227510]
synonym: "sporadic OPCA type 1" EXACT [Orphanet:227510]
xref: ICD10:G90.3 {source="ORDO:227510/ntbt", source="Orphanet:227510"}
xref: Orphanet:227510 {source="MONDO:equivalentTo"}
xref: UMLS:CN201371 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007803 {source="Orphanet:227510"} ! multiple system atrophy
relationship: excluded_subClassOf MONDO:0016592 {source="Orphanet:227510"} ! non-hereditary degenerative ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201371
property_value: exactMatch Orphanet:227510

[Term]
id: MONDO:0016419
name: hereditary breast carcinoma
def: "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." [NCIT:P378]
comment: Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84
subset: clingen
subset: ordo_disease {source="Orphanet:227535"}
synonym: "breast cancer, familial" RELATED [OMIM:114480]
synonym: "breast cancer, familial Male" RELATED [OMIM:114480]
synonym: "familial breast cancer" EXACT [Orphanet:227535]
synonym: "familial breast carcinoma" EXACT [NCIT:C4503, Orphanet:227535]
synonym: "familial cancer of breast" EXACT [NCIT:C4503]
synonym: "familial cancer of the breast" EXACT [NCIT:C4503]
synonym: "hereditary breast cancer" EXACT [NCIT:C4503]
synonym: "hereditary breast carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C4503, Orphanet:227535]
xref: ICD10:C50.0 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.1 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.2 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.3 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.4 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.5 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.6 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: ICD10:C50.8 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"}
xref: MESH:C562840 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4503 {source="MONDO:equivalentTo"}
xref: OMIM:114480 {source="Orphanet:227535", source="MONDO:equivalentTo", source="ORDO:227535/ntbt"}
xref: Orphanet:227535 {source="MONDO:equivalentTo"}
xref: SCTID:254843006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
xref: UMLS:C0346153 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:227535", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4503"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:227535/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
is_a: MONDO:0004989 ! breast carcinoma
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0004989 {source="MONDO:cjm", source="NCIT:C4503"} ! breast carcinoma
property_value: exactMatch http://identifiers.org/mesh/C562840
property_value: exactMatch http://identifiers.org/omim/114480
property_value: exactMatch http://identifiers.org/snomedct/254843006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346153
property_value: exactMatch NCIT:C4503
property_value: exactMatch Orphanet:227535

[Term]
id: MONDO:0016420
name: familial flecked retinopathy
subset: ordo_group_of_disorders {source="Orphanet:227786"}
synonym: "hereditary flecked retinopathy" EXACT [Orphanet:227786]
xref: ICD10:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="ORDO:227786/attributed", source="ORDO:227786/ntbt"}
xref: Orphanet:227786 {source="MONDO:equivalentTo"}
xref: UMLS:CN226924 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020242 {source="Orphanet:227786"} ! genetic macular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226924
property_value: exactMatch Orphanet:227786

[Term]
id: MONDO:0016421
name: toxic oil syndrome
def: "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." [Orphanet:227972]
subset: ordo_disease {source="Orphanet:227972"}
xref: MedDRA:10051222 {source="Orphanet:227972", source="ORDO:227972/e"}
xref: Orphanet:227972 {source="MONDO:equivalentTo"}
xref: SCTID:239910001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0029000 {source="Orphanet:227972"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10051222
property_value: exactMatch http://identifiers.org/snomedct/239910001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409998
property_value: exactMatch Orphanet:227972

[Term]
id: MONDO:0016422
name: autoimmune polyendocrinopathy type 3
def: "Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." [Orphanet:227982]
subset: ordo_disease {source="Orphanet:227982"}
synonym: "APS type 3" EXACT [Orphanet:227982]
synonym: "APS3" EXACT [Orphanet:227982]
synonym: "autoimmune polyendocrine syndrome type 3" EXACT [Orphanet:227982]
synonym: "autoimmune polyglandular syndrome type 3" EXACT [Orphanet:227982]
synonym: "PAS3" RELATED [GARD:0010980]
synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980]
xref: GARD:0010980 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E31.0 {source="MONDO:subClassOf", source="ORDO:227982/ntbt", source="Orphanet:227982"}
xref: ICD9:258.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:227982 {source="MONDO:equivalentTo"}
xref: SCTID:449731009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1535942 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:227982"}
xref: UMLS:C3266027 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005147 {source="Orphanet:227982"} ! type 1 diabetes mellitus
is_a: MONDO:0015777 {source="Orphanet:227982"} ! adult hypothyroidism
is_a: MONDO:0015778 ! syndromic hypothyroidism
is_a: MONDO:0017278 {source="MONDOLEX:0016422", source="Orphanet:227982", source="linkedlifedata"} ! autoimmune polyendocrinopathy
property_value: exactMatch http://identifiers.org/snomedct/449731009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1535942
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3266027
property_value: exactMatch Orphanet:227982

[Term]
id: MONDO:0016423
name: autoimmune polyendocrinopathy type 4
subset: ordo_disease {source="Orphanet:227990"}
synonym: "APS type 4" EXACT [Orphanet:227990]
synonym: "APS4" EXACT [Orphanet:227990]
synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990]
synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990]
xref: ICD10:E31.0 {source="MONDO:subClassOf", source="ORDO:227990/ntbt", source="Orphanet:227990"}
xref: ICD9:258.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:227990 {source="MONDO:equivalentTo"}
xref: SCTID:449730005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3266026 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017278 {source="MONDOLEX:0016423", source="Orphanet:227990", source="linkedlifedata"} ! autoimmune polyendocrinopathy
property_value: exactMatch http://identifiers.org/snomedct/449730005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3266026
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201378
property_value: exactMatch Orphanet:227990

[Term]
id: MONDO:0016424
name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
def: "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." [Orphanet:228012]
comment: Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this
subset: ordo_disease {source="Orphanet:228012"}
synonym: "progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
synonym: "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
synonym: "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
xref: Orphanet:228012 {source="MONDO:equivalentTo"}
xref: UMLS:CN201381 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015110 {source="Orphanet:228012"} ! genetic cardiac rhythm disease
is_a: MONDO:0016329 {source="Orphanet:228012"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0019589 {source="Orphanet:228012"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201381
property_value: exactMatch Orphanet:228012

[Term]
id: MONDO:0016425
name: Hughes-Stovin syndrome
def: "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." [Orphanet:228116]
subset: ordo_disease {source="Orphanet:228116"}
xref: ICD10:I28.8 {source="Orphanet:228116", source="ORDO:228116/ntbt"}
xref: Orphanet:228116 {source="MONDO:equivalentTo"}
xref: SCTID:721226005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:CN201382 {source="MONDO:equivalentTo"}
is_a: MONDO:0015488 {source="Orphanet:228116"} ! predominantly large-vessel vasculitis
property_value: exactMatch http://identifiers.org/snomedct/721226005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201382
property_value: exactMatch Orphanet:228116

[Term]
id: MONDO:0016426
name: fusariosis
def: "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." [Orphanet:228119]
subset: ordo_disease {source="Orphanet:228119"}
synonym: "Fusarium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusarium disease or disorder" EXACT []
synonym: "Fusarium infection" EXACT [Orphanet:228119]
synonym: "Fusarium infectious disease" EXACT []
xref: DOID:0050289 {source="MONDO:equivalentTo"}
xref: EFO:1001795 {source="MONDO:equivalentTo"}
xref: ICD10:B48.7 {source="Orphanet:228119", source="ORDO:228119/ntbt"}
xref: MedDRA:10051919 {source="Orphanet:228119", source="ORDO:228119/e"}
xref: MESH:D060585 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:228119 {source="MONDO:equivalentTo"}
xref: SCTID:64250002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0002312 {source="DOID:0050289"} ! opportunistic mycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: exactMatch DOID:0050289
property_value: exactMatch http://identifiers.org/meddra/10051919
property_value: exactMatch http://identifiers.org/mesh/D060585
property_value: exactMatch http://identifiers.org/snomedct/64250002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276758
property_value: exactMatch Orphanet:228119

[Term]
id: MONDO:0016427
name: obsolete coccidioidomycosis
is_obsolete: true
replaced_by: MONDO:0005706

[Term]
id: MONDO:0016428
name: multiple sclerosis variant
subset: ordo_group_of_disorders {source="Orphanet:228145"}
xref: Orphanet:228145 {source="MONDO:equivalentTo"}
is_a: MONDO:0015916 {source="Orphanet:228145"} ! rare neuroinflammatory or neuroimmunological disease
property_value: exactMatch Orphanet:228145

[Term]
id: MONDO:0016429
name: Marburg acute multiple sclerosis
def: "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients." [Orphanet:228157]
subset: ordo_disease {source="Orphanet:228157"}
synonym: "acute multiple sclerosis, Marburg type" EXACT [Orphanet:228157]
synonym: "acute multiple sclerosis, Marburg variant" EXACT [Orphanet:228157]
xref: Orphanet:228157 {source="MONDO:equivalentTo"}
xref: SCTID:766246000 {source="MONDO:equivalentTo"}
is_a: MONDO:0016428 {source="Orphanet:228157"} ! multiple sclerosis variant
property_value: exactMatch http://identifiers.org/snomedct/766246000
property_value: exactMatch Orphanet:228157

[Term]
id: MONDO:0016430
name: Balo concentric sclerosis
def: "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS . In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." [GARD:0005885]
subset: gard_rare
subset: ordo_disease {source="Orphanet:228165"}
synonym: "Balo concentric sclerosis" EXACT [MONDO:0000713]
synonym: "Balo disease" RELATED [GARD:0005885]
synonym: "Balo's concentric sclerosis" EXACT [DOID:0060215, GARD:0005885]
synonym: "Balo's disease" RELATED [GARD:0005885]
synonym: "Baló concentric sclerosis" RELATED [GARD:0005885]
synonym: "concentric demyelination" EXACT [GARD:0005885, Orphanet:228165]
synonym: "diffuse cerebral sclerosis of Schilder" RELATED [GARD:0005885]
synonym: "encephalitis periaxialis concentrica" RELATED [GARD:0005885]
synonym: "Marburg variant" RELATED [GARD:0005885]
synonym: "Tumefactive multiple sclerosis" RELATED [GARD:0005885]
xref: DOID:0060215 {source="MONDO:equivalentTo"}
xref: GARD:0005885 {source="MONDO:equivalentTo"}
xref: ICD10:G31.81 {source="DOID:0060215"}
xref: ICD10:G37.0 {source="DOID:0060215"}
xref: ICD10:G37.5 {source="ORDO:228165/e", source="Orphanet:228165"}
xref: ICD9:341.1 {source="DOID:0060215", source="MONDO:directSiblingOf"}
xref: MedDRA:10010252 {source="ORDO:228165/e", source="Orphanet:228165"}
xref: Orphanet:228165 {source="GARD:0005885", source="MONDO:equivalentTo"}
xref: SCTID:230380005 {source="DOID:0060215", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:C0004712 {source="MEDGEN:kboom-pr97-c98", source="DOID:0060215", source="MONDO:equivalentTo", source="ORDO:228165/e", source="Orphanet:228165"}
is_a: MONDO:0002562 {source="DOID:0060215"} ! demyelinating disease
is_a: MONDO:0016428 {source="Orphanet:228165"} ! multiple sclerosis variant
relationship: disease_shares_features_of MONDO:0005301 {source="https://www.nationalmssociety.org/What-is-MS/Related-Conditions/Balo%E2%80%99s-Disease"} ! multiple sclerosis
property_value: closeMatch http://identifiers.org/snomedct/155059003
property_value: closeMatch http://identifiers.org/snomedct/192932009
property_value: closeMatch http://identifiers.org/snomedct/192938008
property_value: closeMatch http://identifiers.org/snomedct/267702006
property_value: closeMatch http://identifiers.org/snomedct/44875002
property_value: closeMatch NCIT:C84670
property_value: exactMatch DOID:0060215
property_value: exactMatch http://identifiers.org/meddra/10010252
property_value: exactMatch http://identifiers.org/snomedct/230380005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004712
property_value: exactMatch Orphanet:228165
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis xsd:anyURI {source="GARD:0005885"}

[Term]
id: MONDO:0016431
name: autosomal dominant Charcot-Marie-Tooth disease type 2M
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." [Orphanet:228179]
subset: ordo_disease {source="Orphanet:228179"}
synonym: "CMT2M" EXACT [Orphanet:228179]
xref: ICD10:G60.0 {source="Orphanet:228179", source="ORDO:228179/attributed", source="ORDO:228179/ntbt"}
xref: Orphanet:228179 {source="MONDO:equivalentTo"}
xref: SCTID:719514002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304672 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201389 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011674 ! Charcot-Marie-Tooth disease dominant intermediate b
is_a: MONDO:0018993 {source="Orphanet:228179"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1847902
property_value: exactMatch http://identifiers.org/snomedct/719514002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201389
property_value: exactMatch Orphanet:228179

[Term]
id: MONDO:0016432
name: heart-hand syndrome
def: "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." [Orphanet:228184]
subset: ordo_group_of_disorders {source="Orphanet:228184"}
synonym: "atriodigital dysplasia" EXACT [Orphanet:228184]
xref: ICD10:Q87.2 {source="ORDO:228184/attributed", source="ORDO:228184/ntbt", source="Orphanet:228184"}
xref: Orphanet:228184 {source="MONDO:equivalentTo"}
xref: UMLS:CN201390 {source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:228184"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="Orphanet:228184"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201390
property_value: exactMatch Orphanet:228184

[Term]
id: MONDO:0016433
name: dysmorphism-short stature-deafness-disorder of sex development syndrome
def: "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." [Orphanet:2282]
subset: ordo_malformation_syndrome {source="Orphanet:2282"}
synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [Orphanet:2282]
xref: ICD10:Q87.8 {source="ORDO:2282/attributed", source="ORDO:2282/ntbt", source="Orphanet:2282"}
xref: Orphanet:2282 {source="MONDO:equivalentTo"}
xref: UMLS:CN201392 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2282", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2282"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017978 {source="Orphanet:2282"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0020042 {source="Orphanet:2282"} ! syndrome with 46,XY disorder of sex development
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201392
property_value: exactMatch Orphanet:2282

[Term]
id: MONDO:0016434
name: acquired dermis elastic tissue disorder
def: "An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:228218"}
synonym: "acquired dermis elastic tissue disorder" EXACT [MONDO:patterns/acquired]
xref: Orphanet:228218 {source="MONDO:equivalentTo"}
xref: UMLS:CN226927 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019292 {source="MONDO:Redundant", source="Orphanet:228218"} ! dermis elastic tissue disorder
intersection_of: MONDO:0019292 ! dermis elastic tissue disorder
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226927
property_value: exactMatch Orphanet:228218

[Term]
id: MONDO:0016435
name: acquired dermis elastic tissue disorder with decreased elastic tissue
subset: ordo_group_of_disorders {source="Orphanet:228221"}
xref: Orphanet:228221 {source="MONDO:equivalentTo"}
xref: UMLS:CN226928 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016434 {source="MONDOLEX:0016435", source="Orphanet:228221"} ! acquired dermis elastic tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226928
property_value: exactMatch Orphanet:228221

[Term]
id: MONDO:0016436
name: acquired dermis elastic tissue disorder with increased elastic tissue
subset: ordo_group_of_disorders {source="Orphanet:228224"}
xref: Orphanet:228224 {source="MONDO:equivalentTo"}
xref: UMLS:CN226929 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016434 {source="MONDOLEX:0016436", source="Orphanet:228224"} ! acquired dermis elastic tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226929
property_value: exactMatch Orphanet:228224

[Term]
id: MONDO:0016437
name: late-onset focal dermal elastosis
def: "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." [Orphanet:228227]
subset: ordo_disease {source="Orphanet:228227"}
synonym: "pseudoxanthoma-like late-onset focal dermal elastosis" EXACT [Orphanet:228227]
synonym: "PXE-like late-onset focal dermal elastosis" EXACT [Orphanet:228227]
xref: Orphanet:228227 {source="MONDO:equivalentTo"}
is_a: MONDO:0016436 {source="Orphanet:228227"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch Orphanet:228227

[Term]
id: MONDO:0016438
name: linear focal dermal elastosis
def: "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." [Orphanet:228236]
subset: ordo_disease {source="Orphanet:228236"}
synonym: "Elastotic striae" EXACT [Orphanet:228236]
synonym: "linear focal elastosis" RELATED [Orphanet:228236]
xref: Orphanet:228236 {source="MONDO:equivalentTo"}
is_a: MONDO:0016436 {source="Orphanet:228236"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch Orphanet:228236

[Term]
id: MONDO:0016439
name: elastoderma
def: "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." [https://rarediseases.info.nih.gov/diseases/12716/elastoderma]
subset: gard_rare {source="GARD:0012716"}
subset: ordo_disease {source="Orphanet:228240"}
xref: GARD:0012716 {source="MONDO:equivalentTo"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:228240 {source="MONDO:equivalentTo"}
xref: SCTID:238832003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0406555 {source="MONDO:equivalentTo", source="ORDO:228240/e", source="Orphanet:228240"}
is_a: MONDO:0016436 {source="Orphanet:228240"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch http://identifiers.org/snomedct/238832003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406555
property_value: exactMatch Orphanet:228240
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12716/elastoderma xsd:anyURI {source="GARD:0012716"}

[Term]
id: MONDO:0016440
name: elastofibroma dorsi
def: "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." [NCIT:C4245]
subset: ordo_disease {source="Orphanet:228243"}
synonym: "Elastofibroma" EXACT [NCIT:C4245]
xref: ICDO:8820/0 {source="NCIT:C4245"}
xref: NCIT:C4245 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:228243 {source="MONDO:equivalentTo"}
xref: UMLS:C0334460 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4245"}
xref: UMLS:CN226932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016436 {source="Orphanet:228243"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226932
property_value: exactMatch NCIT:C4245
property_value: exactMatch Orphanet:228243

[Term]
id: MONDO:0016441
name: acquired pseudoxanthoma elasticum
def: "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." [PMID:528701]
subset: ordo_disease {source="Orphanet:228247"}
synonym: "acquired Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:228247]
synonym: "acquired pseudoxanthoma elasticum" EXACT [MONDO:patterns/acquired]
synonym: "acquired pseudoxanthoma elasticum (inherited or acquired)" EXACT [MONDO:patterns/acquired]
synonym: "acquired PXE" EXACT [Orphanet:228247]
synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528701]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:228247 {source="MONDO:equivalentTo"}
xref: SCTID:403401007 {source="MONDO:kboom-pr-1.00/0.91/26.14", source="MONDO:equivalentTo"}
xref: UMLS:C1274759 {source="MONDO:equivalentTo", source="Orphanet:228247", source="ORDO:228247/e"}
is_a: MONDO:0016436 {source="Orphanet:228247"} ! acquired dermis elastic tissue disorder with increased elastic tissue
is_a: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
intersection_of: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/403401007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274759
property_value: exactMatch Orphanet:228247

[Term]
id: MONDO:0016442
name: elastoma
subset: ordo_disease {source="Orphanet:228254"}
synonym: "juvenile elastoma without osteopoikilosis" EXACT [Orphanet:228254]
synonym: "Nevus elasticus" EXACT [Orphanet:228254]
synonym: "Weidman juvenile elastoma" EXACT [Orphanet:228254]
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:228254 {source="MONDO:equivalentTo"}
xref: SCTID:239140003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0473583 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0016436 {source="Orphanet:228254"} ! acquired dermis elastic tissue disorder with increased elastic tissue
property_value: exactMatch http://identifiers.org/snomedct/239140003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473583
property_value: exactMatch Orphanet:228254

[Term]
id: MONDO:0016443
name: papular elastorrhexis
def: "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." [NCIT:C4707]
subset: ordo_disease {source="Orphanet:228264"}
synonym: "disseminated nevus anelasticus" EXACT [Orphanet:228264]
synonym: "eruptive collagenoma" EXACT [Orphanet:228264]
synonym: "Nevus anelasticus" EXACT [Orphanet:228264]
xref: NCIT:C4707 {source="MONDO:equivalentTo"}
xref: Orphanet:228264 {source="MONDO:equivalentTo"}
xref: SCTID:239138008 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0406816 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0473584 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016435 {source="Orphanet:228264"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
property_value: exactMatch http://identifiers.org/snomedct/239138008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473584
property_value: exactMatch NCIT:C4707
property_value: exactMatch Orphanet:228264

[Term]
id: MONDO:0016444
name: primary anetoderma
def: "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." [Orphanet:228272]
subset: ordo_disease {source="Orphanet:228272"}
synonym: "primary macular atrophy" EXACT [Orphanet:228272]
xref: ICD10:L90.1 {source="ORDO:228272/btnt", source="Orphanet:228272"}
xref: ICD10:L90.2 {source="ORDO:228272/btnt", source="Orphanet:228272"}
xref: MESH:D057088 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:228272 {source="MONDO:equivalentTo"}
xref: SCTID:238829001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406550 {source="MONDO:equivalentTo", source="Orphanet:228272", source="ORDO:228272/e"}
is_a: MONDO:0016435 {source="Orphanet:228272"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
property_value: exactMatch http://identifiers.org/mesh/D057088
property_value: exactMatch http://identifiers.org/snomedct/238829001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406550
property_value: exactMatch Orphanet:228272

[Term]
id: MONDO:0016445
name: familial anetoderma
def: "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder." [Orphanet:228277]
subset: ordo_disease {source="Orphanet:228277"}
synonym: "hereditary anetoderma" EXACT [Orphanet:228277]
synonym: "hereditary macular atrophy" EXACT [Orphanet:228277]
xref: ICD10:L90.8 {source="ORDO:228277/attributed", source="ORDO:228277/ntbt", source="Orphanet:228277"}
xref: Orphanet:228277 {source="MONDO:equivalentTo"}
xref: SCTID:733467001 {source="MONDO:equivalentTo"}
xref: UMLS:C4518793 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN226934 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019292 {source="Orphanet:228277", source="Orphanet:228277/inferred"} ! dermis elastic tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/733467001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518793
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226934
property_value: exactMatch Orphanet:228277

[Term]
id: MONDO:0016446
name: acquired cutis laxa
def: "An instance of cutis laxa that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_disease {source="Orphanet:228285"}
synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired]
synonym: "cutis laxa acquisita" EXACT [Orphanet:228285]
xref: Orphanet:228285 {source="MONDO:equivalentTo"}
xref: SCTID:19726003 {source="MONDO:kboom-pr-0.99/0.73/5.37", source="MONDO:equivalentTo"}
xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="Orphanet:228285", source="ORDO:228285/e"}
is_a: MONDO:0016175 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! cutis laxa
is_a: MONDO:0016435 {source="Orphanet:228285"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
intersection_of: MONDO:0016175 ! cutis laxa
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/19726003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406549
property_value: exactMatch Orphanet:228285

[Term]
id: MONDO:0016447
name: white fibrous papulosis of the neck
def: "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." [Orphanet:228290]
subset: ordo_disease {source="Orphanet:228290"}
xref: Orphanet:228290 {source="MONDO:equivalentTo"}
xref: UMLS:CN226935 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016435 {source="Orphanet:228290"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226935
property_value: exactMatch Orphanet:228290

[Term]
id: MONDO:0016448
name: pseudoxanthoma elasticum-like papillary dermal elastolysis
def: "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." [Orphanet:228293]
subset: ordo_disease {source="Orphanet:228293"}
synonym: "PXE-like papillary dermal elastolysis" EXACT [Orphanet:228293]
synonym: "PXE-PDE" EXACT []
xref: Orphanet:228293 {source="MONDO:equivalentTo"}
xref: SCTID:764105002 {source="MONDO:equivalentTo"}
is_a: MONDO:0016435 {source="Orphanet:228293"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
property_value: exactMatch http://identifiers.org/snomedct/764105002
property_value: exactMatch Orphanet:228293

[Term]
id: MONDO:0016449
name: mid-dermal elastolysis
subset: ordo_disease {source="Orphanet:228299"}
xref: Orphanet:228299 {source="MONDO:equivalentTo"}
is_a: MONDO:0016435 {source="Orphanet:228299"} ! acquired dermis elastic tissue disorder with decreased elastic tissue
property_value: exactMatch Orphanet:228299

[Term]
id: MONDO:0016450
name: autoimmune hemolytic anemia, cold type
def: "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms)." [Orphanet:228312]
subset: ordo_group_of_disorders {source="Orphanet:228312"}
synonym: "cAHA" EXACT [Orphanet:228312]
synonym: "cAIHA" EXACT [Orphanet:228312]
synonym: "cold AIHA" EXACT [Orphanet:228312]
xref: ICD10:D59.1 {source="ORDO:228312/ntbt", source="Orphanet:228312"}
xref: Orphanet:228312 {source="MONDO:equivalentTo"}
xref: UMLS:CN201401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020108 {source="MONDOLEX:0016450", source="Orphanet:228312"} ! autoimmune hemolytic anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175816
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201401
property_value: exactMatch Orphanet:228312

[Term]
id: MONDO:0016451
name: idiopathic hypersomnia with long sleep time
def: "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." [Orphanet:228315]
subset: ordo_clinical_subtype {source="Orphanet:228315"}
xref: ICD10:F51.1 {source="Orphanet:228315", source="ORDO:228315/ntbt"}
xref: ICD10:G47.11 {source="MONDO:equivalentTo"}
xref: ICD9:327.11 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:228315 {source="MONDO:equivalentTo"}
xref: SCTID:442416002 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo"}
xref: UMLS:C2711059 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018044 {source="MONDOLEX:0016451", source="Orphanet:228315"} ! idiopathic hypersomnia
property_value: exactMatch http://identifiers.org/snomedct/442416002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2711059
property_value: exactMatch Orphanet:228315

[Term]
id: MONDO:0016452
name: idiopathic hypersomnia without long sleep time
def: "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." [Orphanet:228318]
subset: ordo_clinical_subtype {source="Orphanet:228318"}
xref: ICD10:F51.1 {source="Orphanet:228318", source="ORDO:228318/ntbt"}
xref: ICD10:G47.12 {source="MONDO:equivalentTo"}
xref: ICD9:327.12 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:228318 {source="MONDO:equivalentTo"}
xref: SCTID:442292004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1561855 {source="ORDO:228318/e", source="Orphanet:228318", source="MONDO:equivalentTo"}
is_a: MONDO:0018044 {source="MONDOLEX:0016452", source="Orphanet:228318"} ! idiopathic hypersomnia
property_value: exactMatch http://identifiers.org/snomedct/442292004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1561855
property_value: exactMatch Orphanet:228318

[Term]
id: MONDO:0016453
name: foodborne botulism
def: "Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." [Orphanet:228371]
subset: ordo_clinical_subtype {source="Orphanet:228371"}
synonym: "intoxication botulism" EXACT [Orphanet:228371]
xref: COHD:443444 {source="MONDO:equivalentTo"}
xref: DOID:0050352 {source="MONDO:equivalentTo"}
xref: ICD10:A05.1 {source="ORDO:228371/ntbt", source="Orphanet:228371"}
xref: ICD9:005.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C128341 {source="MONDO:kboom-pr-0.97/0.80/2.55", source="MONDO:equivalentTo"}
xref: Orphanet:228371 {source="MONDO:equivalentTo"}
xref: SCTID:398523009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.75/1.07"}
xref: UMLS:C1739094 {source="NCIT:C128341", source="MONDO:equivalentTo", source="Orphanet:228371", source="ORDO:228371/e"}
is_a: MONDO:0005498 {source="DOID:0050352", source="NCIT:C128341", source="Orphanet:228371"} ! botulism
property_value: exactMatch DOID:0050352
property_value: exactMatch http://identifiers.org/snomedct/398523009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1739094
property_value: exactMatch NCIT:C128341
property_value: exactMatch Orphanet:228371

[Term]
id: MONDO:0016454
name: severe early-onset axonal neuropathy due to NEFL deficiency
def: "Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities." [Orphanet:228374]
subset: ordo_disease {source="Orphanet:228374"}
synonym: "AR-CMT2B5" EXACT [Orphanet:228374]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374]
synonym: "Charcot-Marie-Tooth disease type 2B5" RELATED [Orphanet:228374]
synonym: "SEOAN due to NEFL deficiency" EXACT [Orphanet:228374]
synonym: "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" EXACT [Orphanet:228374]
xref: ICD10:G60.0 {source="ORDO:228374/attributed", source="ORDO:228374/ntbt", source="Orphanet:228374"}
xref: Orphanet:228374 {source="MONDO:equivalentTo"}
is_a: MONDO:0019601 {source="MONDOLEX:0016454", source="Orphanet:228374"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch Orphanet:228374

[Term]
id: MONDO:0016455
name: virus-associated trichodysplasia spinulosa
def: "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." [Orphanet:228379]
subset: ordo_disease {source="Orphanet:228379"}
synonym: "Cyclosporine-induced folliculodystrophy" EXACT [Orphanet:228379]
synonym: "pilomatrix dysplasia" EXACT [Orphanet:228379]
synonym: "trichodysplasia spinulosa" EXACT [Orphanet:228379]
synonym: "TS" EXACT [Orphanet:228379]
synonym: "VATS" EXACT [Orphanet:228379]
xref: Orphanet:228379 {source="MONDO:equivalentTo"}
xref: UMLS:C3267126 {source="MONDO:equivalentTo", source="Orphanet:228379", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005108 {source="Orphanet:228379"} ! viral infectious disease
is_a: MONDO:0019546 {source="Orphanet:228379"} ! other acquired skin disease
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267126
property_value: exactMatch Orphanet:228379

[Term]
id: MONDO:0016456
name: 5q14.3 microdeletion syndrome
def: "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." [Orphanet:228384]
comment: Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this
subset: ordo_malformation_syndrome {source="Orphanet:228384"}
synonym: "5q14.3 deletion syndrome" RELATED [GARD:0012166]
synonym: "autosomal dominant intellectual disability 20" RELATED [GARD:0012166]
synonym: "chromosome 5q14.3 deletion syndrome" RELATED [GARD:0012166]
synonym: "Del(5)(q14.3)" EXACT [Orphanet:228384]
synonym: "monosomy 5q14.3" EXACT [Orphanet:228384]
xref: GARD:0012166 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="ORDO:228384/attributed", source="ORDO:228384/ntbt", source="Orphanet:228384"}
xref: Orphanet:228384 {source="MONDO:equivalentTo"}
xref: SCTID:719661007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002254 {source="MONDOLEX:0016456"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:228384"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:228384"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016904 {source="Orphanet:228384"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/719661007
property_value: exactMatch Orphanet:228384

[Term]
id: MONDO:0016457
name: ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
def: "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." [Orphanet:228396]
subset: ordo_malformation_syndrome {source="Orphanet:228396"}
xref: ICD10:Q87.0 {source="ORDO:228396/attributed", source="ORDO:228396/ntbt", source="Orphanet:228396"}
xref: Orphanet:228396 {source="MONDO:equivalentTo"}
xref: UMLS:CN201421 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020169 {source="Orphanet:228396"} ! rare disorder with ptosis
is_a: MONDO:0020195 {source="Orphanet:228396"} ! excretory apparatus of the lacrimal system anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201421
property_value: exactMatch Orphanet:228396

[Term]
id: MONDO:0016458
name: 8q12 microduplication syndrome
def: "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." [Orphanet:228399]
subset: gard_rare {source="GARD:0012816"}
subset: ordo_malformation_syndrome {source="Orphanet:228399"}
synonym: "chromosome 8q12 microduplication syndrome" RELATED [GARD:0012816]
synonym: "dup(8)(q12)" EXACT [Orphanet:228399]
synonym: "trisomy 8q12" EXACT [Orphanet:228399]
xref: GARD:0012816 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="Orphanet:228399", source="ORDO:228399/attributed", source="ORDO:228399/ntbt"}
xref: Orphanet:228399 {source="MONDO:equivalentTo"}
xref: SCTID:719684000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C4304504 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201422 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016959 {source="Orphanet:228399"} ! partial duplication of the long arm of chromosome 8
property_value: exactMatch http://identifiers.org/snomedct/719684000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304504
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201422
property_value: exactMatch Orphanet:228399
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome xsd:anyURI {source="GARD:0012816"}

[Term]
id: MONDO:0016459
name: 2q23.1 microdeletion syndrome
def: "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." [Orphanet:228402]
comment: Editor note: TODO check ORDO xref to OMIM
subset: gard_rare {source="GARD:0010998"}
subset: ordo_malformation_syndrome {source="Orphanet:228402"}
synonym: "chromosome 2q23.1 microdeletion syndrome" RELATED [GARD:0010998]
synonym: "Del(2)(q23.1)" EXACT [Orphanet:228402]
synonym: "monosomy 2q23.1" EXACT [Orphanet:228402]
synonym: "pseudo-Angelman syndrome" EXACT [Orphanet:228402]
xref: GARD:0010998 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:228402", source="ORDO:228402/attributed", source="ORDO:228402/ntbt"}
xref: Orphanet:228402 {source="MONDO:equivalentTo"}
xref: SCTID:719657001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:228402", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:228402"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:228402"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016901 {source="MONDOLEX:0016459", source="Orphanet:228402"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/719657001
property_value: exactMatch Orphanet:228402
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome xsd:anyURI {source="GARD:0010998"}

[Term]
id: MONDO:0016460
name: polyvalvular heart disease syndrome
def: "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." [Orphanet:228410]
subset: ordo_malformation_syndrome {source="Orphanet:228410"}
synonym: "PHD syndrome" EXACT [Orphanet:228410]
xref: ICD10:Q87.8 {source="Orphanet:228410", source="ORDO:228410/attributed", source="ORDO:228410/ntbt"}
xref: Orphanet:228410 {source="MONDO:equivalentTo"}
xref: SCTID:723448007 {source="MONDO:equivalentTo"}
xref: UMLS:C4509918 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN201425 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015332 {source="Orphanet:228410"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015506 {source="Orphanet:228410"} ! rare syndrome with cardiac malformations
is_a: MONDO:0043007 {source="Orphanet:228410"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/snomedct/723448007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201425
property_value: exactMatch Orphanet:228410

[Term]
id: MONDO:0016461
name: 5q35 microduplication syndrome
def: "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." [Orphanet:228415]
subset: ordo_malformation_syndrome {source="Orphanet:228415"}
synonym: "dup(5)(q35)" EXACT [Orphanet:228415]
synonym: "trisomy 5q35" EXACT [Orphanet:228415]
xref: ICD10:Q92.3 {source="Orphanet:228415", source="ORDO:228415/attributed", source="ORDO:228415/ntbt"}
xref: Orphanet:228415 {source="MONDO:equivalentTo"}
xref: SCTID:719665003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C4304526 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201426 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016956 {source="Orphanet:228415"} ! partial trisomy of the long arm of chromosome 5
property_value: exactMatch http://identifiers.org/snomedct/719665003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201426
property_value: exactMatch Orphanet:228415

[Term]
id: MONDO:0016462
name: isolated agammaglobulinemia
def: "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." [Orphanet:229717]
subset: ordo_disease {source="Orphanet:229717"}
synonym: "isolated hypogammaglobulinemia" EXACT [Orphanet:229717]
synonym: "nonsyndromic agammaglobulinemia" EXACT [MONDO:patterns/isolated]
xref: Orphanet:229717 {source="MONDO:equivalentTo"}
xref: SCTID:764858009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="MONDO:Redundant", source="Orphanet:229717"} ! agammaglobulinemia
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086438
property_value: exactMatch http://identifiers.org/snomedct/764858009
property_value: exactMatch Orphanet:229717

[Term]
id: MONDO:0016463
name: syndromic agammaglobulinemia
def: "A agammaglobulinemia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:229720"}
synonym: "hypogammaglobulinemia" BROAD [NCIT:C26931]
synonym: "syndrome associated with agammaglobulinemia" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with agammaglobulinemia" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic agammaglobulinemia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hypogammaglobulinemia" EXACT []
xref: NCIT:C26931 {source="MONDO:cjm", source="MONDO:equivalentTo", source="the NCIT class hypogammaglobulinemia is implicitly syndromic so we place here"}
xref: Orphanet:229720 {source="MONDO:equivalentTo"}
xref: UMLS:CN226939 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C26931/inferred", source="OWLReasoner:2017"} ! syndromic disease
is_a: MONDO:0015977 {source="MONDO:Redundant", source="Orphanet:229720"} ! agammaglobulinemia
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226939
property_value: exactMatch NCIT:C26931
property_value: exactMatch Orphanet:229720

[Term]
id: MONDO:0016464
name: insulin-resistance syndrome type B
def: "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction." [Orphanet:2298]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2298"}
synonym: "insulin-resistance type B" RELATED [GARD:0003009]
xref: GARD:0003009 {source="MONDO:equivalentTo"}
xref: ICD10:E13 {source="Orphanet:2298", source="ORDO:2298/attributed", source="ORDO:2298/ntbt"}
xref: Orphanet:2298 {source="GARD:0003009", source="MONDO:equivalentTo"}
xref: UMLS:C0342337 {source="Orphanet:2298", source="ORDO:2298/e", source="GARD:0003009", source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:2298"} ! rare insulin-resistance syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342337
property_value: exactMatch Orphanet:2298
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b xsd:anyURI {source="GARD:0003009"}

[Term]
id: MONDO:0016465
name: obsolete multiple intestinal atresia
is_obsolete: true
replaced_by: MONDO:0009465

[Term]
id: MONDO:0016466
name: asbestosis
def: "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." [NCIT:C84573]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2302"}
synonym: "asbestos dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "asbestos intoxication" RELATED [Orphanet:2302]
synonym: "asbestos intoxination" EXACT [Orphanet:2302]
synonym: "asbestos pneumoconiosis" EXACT [MONDO:cjm]
synonym: "asbestosis" EXACT [MONDO:0005653]
synonym: "idiopathic interstitial pneumonitis - from asbestos exposure" RELATED [GARD:0005852]
synonym: "pneumoconiosis from asbestos dust" EXACT []
synonym: "pulmonary fibrosis - from asbestos exposure" RELATED [GARD:0005852]
xref: COHD:256450 {source="MONDO:equivalentTo"}
xref: CSP:2596-4484 {source="DOID:10320"}
xref: DOID:10320 {source="MONDO:equivalentTo", source="EFO:0007153"}
xref: EFO:0007153 {source="MONDO:equivalentTo"}
xref: GARD:0005852 {source="MONDO:equivalentTo"}
xref: ICD10:J61 {source="Orphanet:2302", source="ORDO:2302/ntbt", source="DOID:10320"}
xref: ICD9:501 {source="MONDO:equivalentTo", source="i2s", source="DOID:10320"}
xref: MESH:D001195 {source="MONDO:equivalentTo", source="EFO:0007153", source="DOID:10320"}
xref: NCIT:C84573 {source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"}
xref: Orphanet:2302 {source="MONDO:equivalentTo"}
xref: SCTID:22607003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10320"}
xref: UMLS:C0003949 {source="Orphanet:2302", source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"}
is_a: MONDO:0015926 {source="DOID:10320", source="EFO:0007153", source="MESH:D001195", source="MONDO:Redundant", source="NCIT:C84573", source="Orphanet:2302"} ! pneumoconiosis
property_value: closeMatch http://identifiers.org/snomedct/155589004
property_value: closeMatch http://identifiers.org/snomedct/196006003
property_value: closeMatch http://identifiers.org/snomedct/266400008
property_value: exactMatch DOID:10320
property_value: exactMatch http://identifiers.org/mesh/D001195
property_value: exactMatch http://identifiers.org/snomedct/22607003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003949
property_value: exactMatch NCIT:C84573
property_value: exactMatch Orphanet:2302

[Term]
id: MONDO:0016467
name: isotretinoin syndrome
def: "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." [Orphanet:2305]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2305"}
synonym: "Accutane fetal effects of" RELATED [GARD:0000517]
synonym: "Accutane-exposed pregnancies" RELATED [GARD:0000517]
synonym: "Acutane embryopathy" RELATED [GARD:0000517]
synonym: "fetal isotretinoin syndrome" EXACT [NCIT:C98929]
synonym: "fetal retinoid syndrome" EXACT [NCIT:C98929]
synonym: "Isotretinoin (RoAccutane) embryopathy" RELATED [GARD:0000517]
synonym: "Isotretinoin embryopathy" EXACT [GARD:0000517, Orphanet:2305]
synonym: "Isotretinoin fetal effects of" RELATED [GARD:0000517]
synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517]
synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305]
synonym: "Retinoids embryopathy" EXACT [Orphanet:2305]
xref: GARD:0000517 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="ORDO:2305/ntbt", source="Orphanet:2305"}
xref: MESH:C535670 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98929 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: Orphanet:2305 {source="MONDO:equivalentTo"}
xref: SCTID:36871005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0009473 {source="MONDO:cjm"} ! isotretinoin-like syndrome
is_a: MONDO:0015323 {source="Orphanet:2305"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="MESH:C535670", source="Orphanet:2305"} ! toxic or drug-related embryofetopathy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432364
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930972
property_value: exactMatch http://identifiers.org/mesh/C535670
property_value: exactMatch http://identifiers.org/snomedct/36871005
property_value: exactMatch NCIT:C98929
property_value: exactMatch Orphanet:2305

[Term]
id: MONDO:0016468
name: toxin-mediated infectious botulism
def: "leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms)." [Orphanet:230800]
subset: ordo_clinical_subtype {source="Orphanet:230800"}
synonym: "toxin-mediated infective botulism" EXACT [Orphanet:230800]
xref: ICD10:A05.1 {source="ORDO:230800/ntbt", source="Orphanet:230800"}
xref: Orphanet:230800 {source="MONDO:equivalentTo"}
is_a: MONDO:0005498 {source="Orphanet:230800"} ! botulism
property_value: exactMatch Orphanet:230800

[Term]
id: MONDO:0016469
name: Ehlers-Danlos syndrome, vascular-like type
def: "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." [Orphanet:230845]
subset: ordo_disease {source="Orphanet:230845"}
synonym: "EDS, vascular-like type" EXACT [Orphanet:230845]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:230845/attributed", source="ORDO:230845/ntbt", source="Orphanet:230845"}
xref: Orphanet:230845 {source="MONDO:equivalentTo"}
xref: SCTID:720862007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
xref: UMLS:CN201458 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:230845", source="indirect"} ! vascular disease
is_a: MONDO:0020066 {source="MONDOLEX:0016469", source="Orphanet:230845", source="linkedlifedata"} ! Ehlers-Danlos syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/720862007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201458
property_value: exactMatch Orphanet:230845

[Term]
id: MONDO:0016470
name: Ehlers-Danlos/osteogenesis imperfecta syndrome
def: "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." [Orphanet:230857]
subset: ordo_disease {source="Orphanet:230857"}
synonym: "EDS/OI syndrome" EXACT [Orphanet:230857]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230857", source="ORDO:230857/attributed", source="ORDO:230857/ntbt"}
xref: MESH:C565178 {source="MONDO:equivalentTo"}
xref: Orphanet:230857 {source="MONDO:equivalentTo"}
xref: UMLS:CN201460 {source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:230857"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0020066 {source="MESH:C565178", source="MONDOLEX:0016470", source="Orphanet:230857"} ! Ehlers-Danlos syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: disease_has_feature MONDO:0019019 {source="MONDO:cjm"} ! osteogenesis imperfecta
property_value: exactMatch http://identifiers.org/mesh/C565178
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201460
property_value: exactMatch Orphanet:230857

[Term]
id: MONDO:0016471
name: pachyonychia congenita
def: "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." [Orphanet:2309]
subset: gard_rare {source="GARD:0010753"}
subset: ordo_disease {source="Orphanet:2309"}
synonym: "congenital pachyonychia" RELATED [GARD:0010753]
synonym: "Jackson-Lawler type pachyonychia congenita" EXACT [DOID:0050449]
synonym: "Jadassohn-Lewandowsky syndrome" EXACT [DOID:0050449]
synonym: "pachyonychia congenita syndrome" RELATED [GARD:0010753]
synonym: "pachyonychia congenita type 1" NARROW [DOID:0050449]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [DOID:0050449]
synonym: "PC" EXACT [Orphanet:2309]
xref: DOID:0050449 {source="MONDO:equivalentTo"}
xref: GARD:0010753 {source="MONDO:equivalentTo"}
xref: ICD10:Q84.5 {source="ORDO:2309/attributed", source="ORDO:2309/ntbt", source="Orphanet:2309"}
xref: MESH:D053549 {source="MONDO:equivalentTo", source="DOID:0050449", source="ORDO:2309/e", source="Orphanet:2309"}
xref: NCIT:C84986 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050449"}
xref: OMIMPS:167200 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2309 {source="MONDO:equivalentTo"}
xref: UMLS:C0265334 {source="NCIT:C84986", source="MONDO:equivalentTo", source="DOID:0050449", source="ORDO:2309/e", source="Orphanet:2309"}
is_a: MONDO:0015331 {source="Orphanet:2309"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019285 {source="Orphanet:2309"} ! syndromic nail anomaly
is_a: MONDO:0020095 {source="Orphanet:2309"} ! autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
property_value: closeMatch http://identifiers.org/snomedct/205600001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1706595
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1721007
property_value: exactMatch DOID:0050449
property_value: exactMatch http://identifiers.org/mesh/D053549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265334
property_value: exactMatch NCIT:C84986
property_value: exactMatch Orphanet:2309
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita xsd:anyURI {source="GARD:0010753"}

[Term]
id: MONDO:0016472
name: dracunculiasis
def: "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." [Orphanet:231]
subset: gard_rare {source="GARD:0006286"}
subset: ordo_disease {source="Orphanet:231"}
synonym: "dracontiasis" EXACT [DOID:14418, ICD9CM_2006:125.7]
synonym: "Dracunculosis" EXACT [Orphanet:231]
synonym: "Dracunculus medinensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dracunculus medinensis disease or disorder" EXACT []
synonym: "Dracunculus medinensis infectious disease" EXACT []
synonym: "Guinea worm disease" EXACT [Orphanet:231]
synonym: "Guinea worm infection" RELATED [GARD:0006286]
synonym: "GWD" RELATED [GARD:0006286]
synonym: "infection by Dracunculus medinensis" EXACT [DOID:14418, MTHICD9_2006:125.7]
synonym: "Medina worm disease" EXACT [Orphanet:231]
synonym: "medinensis" EXACT [Orphanet:231]
synonym: "parasitic infection caused by Dracunculus medinensis" RELATED [GARD:0006286]
xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"}
xref: EFO:0007241 {source="MONDO:equivalentTo"}
xref: GARD:0006286 {source="MONDO:equivalentTo"}
xref: ICD10:B72 {source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="Orphanet:231"}
xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10013618 {source="ORDO:231/e", source="Orphanet:231"}
xref: MESH:D004320 {source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="EFO:0007241", source="MONDO:ontobio", source="Orphanet:231"}
xref: NCIT:C84677 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:231 {source="MONDO:equivalentTo"}
xref: SCTID:396334002 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013100 {source="NCIT:C84677", source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="Orphanet:231"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
is_a: MONDO:0016075 {source="Orphanet:231"} ! filariasis
property_value: closeMatch http://identifiers.org/snomedct/48874008
property_value: exactMatch DOID:14418
property_value: exactMatch http://identifiers.org/meddra/10013618
property_value: exactMatch http://identifiers.org/mesh/D004320
property_value: exactMatch http://identifiers.org/snomedct/396334002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013100
property_value: exactMatch NCIT:C84677
property_value: exactMatch Orphanet:231
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis xsd:anyURI {source="GARD:0006286"}

[Term]
id: MONDO:0016473
name: familial rhabdoid tumor
def: "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." [NCIT:C93268]
subset: ordo_clinical_subtype {source="Orphanet:231108"}
synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [NCIT:C93268]
synonym: "hereditary rhabdoid tumor" EXACT [MONDO:patterns/hereditary]
synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268]
synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108]
synonym: "RTPS" EXACT [Orphanet:231108]
xref: ICD10:C49.9 {source="ORDO:231108/attributed", source="ORDO:231108/ntbt", source="Orphanet:231108"}
xref: NCIT:C93268 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.32"}
xref: OMIMPS:609322 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:231108 {source="MONDO:equivalentTo"}
xref: UMLS:C2985524 {source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo"}
xref: UMLS:CN201468 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002728 {source="MONDO:Redundant", source="Orphanet:231108"} ! rhabdoid tumor
is_a: MONDO:0015356 {source="NCIT:C93268"} ! hereditary neoplastic syndrome
is_a: MONDO:0017127 {source="MONDO:Entailed", source="Orphanet:231108"} ! inherited soft tissue tumor
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: disease_has_feature MONDO:0002728 ! rhabdoid tumor
relationship: disease_has_feature MONDO:0002728 ! rhabdoid tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2985524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201468
property_value: exactMatch NCIT:C93268
property_value: exactMatch Orphanet:231108

[Term]
id: MONDO:0016474
name: drug-induced lupus erythematosus
def: "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." [NCIT:C114354]
subset: ordo_disease {source="Orphanet:231111"}
synonym: "DIL" BROAD [DOID:0040093]
synonym: "DILE" EXACT [DOID:0040093, Orphanet:231111]
synonym: "drug induced lupus" EXACT [NCIT:C114354]
synonym: "drug induced lupus erythematosus" EXACT [NCIT:C114354]
synonym: "drug-induced lupus" EXACT [NCIT:C114354]
xref: DOID:0040093 {source="MONDO:equivalentTo"}
xref: ICD10:M32.0 {source="Orphanet:231111", source="ORDO:231111/e", source="DOID:0040093"}
xref: MedDRA:10013706 {source="Orphanet:231111", source="ORDO:231111/e"}
xref: NCIT:C114354 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: Orphanet:231111 {source="MONDO:equivalentTo"}
xref: SCTID:80258006 {source="MONDO:kboom-pr-1.00/0.91/25.97", source="MONDO:equivalentTo"}
xref: UMLS:C0263591 {source="Orphanet:231111", source="ORDO:231111/e", source="MONDO:equivalentTo", source="NCIT:C114354", source="DOID:0040093"}
is_a: MONDO:0004670 {source="DOID:0040093", source="MONDO:Redundant", source="NCIT:C114354", source="linkedlifedata"} ! lupus erythematosus
is_a: MONDO:0015939 ! systemic autoimmune disease
is_a: MONDO:0017368 {source="Orphanet:231111"} ! systemic disease with skin involvement
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: closeMatch http://identifiers.org/snomedct/821398018
property_value: exactMatch DOID:0040093
property_value: exactMatch http://identifiers.org/meddra/10013706
property_value: exactMatch http://identifiers.org/snomedct/80258006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263591
property_value: exactMatch NCIT:C114354
property_value: exactMatch Orphanet:231111

[Term]
id: MONDO:0016475
name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
subset: ordo_etiological_subtype {source="Orphanet:231117"}
synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231117]
xref: ICD10:Q87.3 {source="ORDO:231117/attributed", source="ORDO:231117/ntbt", source="Orphanet:231117"}
xref: Orphanet:231117 {source="MONDO:equivalentTo"}
xref: UMLS:CN201470 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0016475", source="Orphanet:231117"} ! Beckwith-Wiedemann syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201470
property_value: exactMatch Orphanet:231117

[Term]
id: MONDO:0016476
name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
subset: ordo_etiological_subtype {source="Orphanet:231120"}
xref: ICD10:Q87.3 {source="Orphanet:231120", source="ORDO:231120/attributed", source="ORDO:231120/ntbt"}
xref: Orphanet:231120 {source="MONDO:equivalentTo"}
xref: UMLS:CN201471 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0016476", source="Orphanet:231120"} ! Beckwith-Wiedemann syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201471
property_value: exactMatch Orphanet:231120

[Term]
id: MONDO:0016477
name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:231127"}
xref: ICD10:Q87.3 {source="ORDO:231127/attributed", source="ORDO:231127/ntbt", source="Orphanet:231127"}
xref: Orphanet:231127 {source="MONDO:equivalentTo"}
xref: UMLS:CN201472 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0016477", source="Orphanet:231127"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0016893 {source="Orphanet:231127"} ! partial deletion of the short arm of chromosome 11
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201472
property_value: exactMatch Orphanet:231127

[Term]
id: MONDO:0016478
name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
subset: ordo_etiological_subtype {source="Orphanet:231130"}
xref: ICD10:Q87.3 {source="Orphanet:231130", source="ORDO:231130/attributed", source="ORDO:231130/ntbt"}
xref: Orphanet:231130 {source="MONDO:equivalentTo"}
xref: UMLS:CN201473 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0016478", source="Orphanet:231130"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0016998 {source="Orphanet:231130"} ! complex chromosomal rearrangement
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201473
property_value: exactMatch Orphanet:231130

[Term]
id: MONDO:0016479
name: silver-Russell syndrome due to 7p11.2p13 microduplication
subset: ordo_etiological_subtype {source="Orphanet:231137"}
synonym: "Silver-Russell syndrome due to 7p11.2-p13 microduplication" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to dup(7)(p11.2p13)" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to trisomy 7p11.2-p13" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to trisomy 7p11.2p13" EXACT [Orphanet:231137]
xref: ICD10:Q87.1 {source="ORDO:231137/attributed", source="ORDO:231137/ntbt", source="Orphanet:231137"}
xref: Orphanet:231137 {source="MONDO:equivalentTo"}
xref: UMLS:CN201474 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:231137"} ! Silver-Russell syndrome
is_a: MONDO:0016944 {source="MONDOLEX:0016479", source="Orphanet:231137"} ! partial duplication of the short arm of chromosome 7
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201474
property_value: exactMatch Orphanet:231137

[Term]
id: MONDO:0016480
name: silver-Russell syndrome due to an imprinting defect of 11p15
subset: ordo_etiological_subtype {source="Orphanet:231140"}
synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231140]
xref: ICD10:Q87.1 {source="ORDO:231140/attributed", source="ORDO:231140/ntbt", source="Orphanet:231140"}
xref: Orphanet:231140 {source="MONDO:equivalentTo"}
xref: UMLS:CN201475 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:231140"} ! Silver-Russell syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201475
property_value: exactMatch Orphanet:231140

[Term]
id: MONDO:0016481
name: silver-Russell syndrome due to 11p15 microduplication
subset: ordo_etiological_subtype {source="Orphanet:231144"}
xref: ICD10:Q87.1 {source="Orphanet:231144", source="ORDO:231144/attributed", source="ORDO:231144/ntbt"}
xref: Orphanet:231144 {source="MONDO:equivalentTo"}
xref: UMLS:CN201476 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:231144"} ! Silver-Russell syndrome
is_a: MONDO:0016948 {source="Orphanet:231144"} ! partial duplication of the short arm of chromosome 11
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201476
property_value: exactMatch Orphanet:231144

[Term]
id: MONDO:0016482
name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
subset: ordo_etiological_subtype {source="Orphanet:231147"}
synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:231147]
synonym: "UPD(11)mat" EXACT [Orphanet:231147]
xref: ICD10:Q87.1 {source="ORDO:231147/attributed", source="ORDO:231147/ntbt", source="Orphanet:231147"}
xref: Orphanet:231147 {source="MONDO:equivalentTo"}
xref: UMLS:CN201477 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:231147"} ! Silver-Russell syndrome
is_a: MONDO:0020056 {source="Orphanet:231147"} ! uniparental disomy of maternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201477
property_value: exactMatch Orphanet:231147

[Term]
id: MONDO:0016483
name: intracranial berry aneurysm
def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [DOID:0060228, http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, http://radiopaedia.org/articles/saccular-cerebral-aneurysm, http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/]
subset: ordo_disease {source="Orphanet:231160"}
synonym: "aneurysm, intracranial berry" EXACT [OMIMPS:105800]
synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [DOID:0060228]
synonym: "familial berry aneurysm" EXACT [DOID:0060228, Orphanet:231160]
synonym: "familial cerebral saccular aneurysm" RELATED [Orphanet:231160]
synonym: "familial intracranial saccular aneurysm" EXACT [DOID:0060228, Orphanet:231160]
synonym: "saccular cerebral aneurysm" EXACT [DOID:0060228]
xref: DOID:0060228 {source="MONDO:equivalentTo"}
xref: HP:0007029 {source="MONDO:otherHierarchy", source="DOID:0060228"}
xref: ICD10:I60.7 {source="DOID:0060228"}
xref: ICD10:I67.1 {source="Orphanet:231160", source="ORDO:231160/attributed", source="ORDO:231160/ntbt"}
xref: OMIMPS:105800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:231160 {source="MONDO:equivalentTo", source="DOID:0060228"}
xref: SCTID:703226008 {source="MONDO:equivalentTo"}
xref: UMLS:CN230268 {source="MONDO:equivalentTo"}
is_a: MONDO:0005291 {source="DOID:0060228"} ! brain aneurysm
is_a: MONDO:0015145 {source="Orphanet:231160"} ! neurovascular malformation
is_a: MONDO:0015953 {source="Orphanet:231160", source="Orphanet:231160/inferred"} ! genetic central nervous system and retinal vascular disease
property_value: exactMatch DOID:0060228
property_value: exactMatch http://identifiers.org/snomedct/703226008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230268
property_value: exactMatch Orphanet:231160

[Term]
id: MONDO:0016484
name: Usher syndrome type 2
def: "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." [NCIT:C126328]
subset: clingen
subset: ordo_clinical_subtype {source="Orphanet:231178"}
synonym: "USH2" EXACT [DOID:0110827, Orphanet:231178]
xref: DOID:0110827 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827", source="ORDO:231178/attributed", source="ORDO:231178/ntbt"}
xref: NCIT:C126328 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:231178 {source="MONDO:equivalentTo", source="DOID:0110827"}
xref: SCTID:232058008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339534 {source="ORDO:231178/e", source="Orphanet:231178", source="MONDO:equivalentTo", source="DOID:0110827", source="NCIT:C126328"}
is_a: MONDO:0019501 {source="DOID:0110827", source="NCIT:C126328", source="Orphanet:231178"} ! Usher syndrome
property_value: exactMatch DOID:0110827
property_value: exactMatch http://identifiers.org/snomedct/232058008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339534
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1568249
property_value: exactMatch NCIT:C126328
property_value: exactMatch Orphanet:231178

[Term]
id: MONDO:0016485
name: Usher syndrome type 3
def: "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." [NCIT:C126329]
subset: ordo_clinical_subtype {source="Orphanet:231183"}
synonym: "USH3" EXACT [DOID:0110828, Orphanet:231183]
xref: DOID:0110828 {source="MONDO:equivalentTo"}
xref: GARD:0005442 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110828", source="ORDO:231183/attributed", source="ORDO:231183/ntbt", source="Orphanet:231183"}
xref: NCIT:C126329 {source="MONDO:kboom-pr-0.90/0.78/0.30", source="MONDO:equivalentTo"}
xref: Orphanet:231183 {source="MONDO:equivalentTo", source="DOID:0110828"}
xref: UMLS:C1568248 {source="MONDO:equivalentTo", source="DOID:0110828", source="NCIT:C126329", source="ORDO:231183/e", source="Orphanet:231183"}
is_a: MONDO:0019501 {source="DOID:0110828", source="NCIT:C126329", source="Orphanet:231183"} ! Usher syndrome
property_value: exactMatch DOID:0110828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1568248
property_value: exactMatch NCIT:C126329
property_value: exactMatch Orphanet:231183

[Term]
id: MONDO:0016486
name: beta-thalassemia major
def: "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." [Orphanet:231214]
subset: ordo_clinical_subtype {source="Orphanet:231214"}
synonym: "Beta thalassemia Major" EXACT [NCIT:C129699]
synonym: "Cooley anemia" EXACT [Orphanet:231214]
synonym: "Cooley's Anemia" EXACT [NCIT:C129699]
synonym: "Mediterranean anemia" EXACT [Orphanet:231214]
xref: ICD10:D56.1 {source="ORDO:231214/attributed", source="ORDO:231214/ntbt", source="Orphanet:231214"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129699 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:231214 {source="MONDO:equivalentTo"}
xref: SCTID:26682008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.63"}
is_a: MONDO:0013517 ! beta-thalassemia HBB/LCRB
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002875
property_value: exactMatch http://identifiers.org/snomedct/26682008
property_value: exactMatch NCIT:C129699
property_value: exactMatch Orphanet:231214

[Term]
id: MONDO:0016487
name: beta-thalassemia intermedia
def: "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." [Orphanet:231222]
subset: ordo_clinical_subtype {source="Orphanet:231222"}
xref: ICD10:D56.1 {source="Orphanet:231222", source="ORDO:231222/attributed", source="ORDO:231222/ntbt"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062923 {source="ORDO:231222/e", source="Orphanet:231222"}
xref: Orphanet:231222 {source="MONDO:equivalentTo"}
xref: SCTID:191189009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0013517 ! beta-thalassemia HBB/LCRB
property_value: exactMatch http://identifiers.org/meddra/10062923
property_value: exactMatch http://identifiers.org/snomedct/191189009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472767
property_value: exactMatch Orphanet:231222

[Term]
id: MONDO:0016488
name: beta-thalassemia associated with another hemoglobin anomaly
def: "Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]." [Orphanet:231230]
subset: ordo_group_of_disorders {source="Orphanet:231230"}
synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230]
xref: ICD10:D58.2 {source="Orphanet:231230", source="ORDO:231230/attributed", source="ORDO:231230/ntbt"}
xref: Orphanet:231230 {source="MONDO:equivalentTo"}
is_a: MONDO:0017145 {source="Orphanet:231230"} ! beta-thalassemia and related diseases
property_value: exactMatch Orphanet:231230

[Term]
id: MONDO:0016489
name: delta-beta-thalassemia
def: "Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [Orphanet:231237]
subset: ordo_disease {source="Orphanet:231237"}
xref: ICD10:D56.2 {source="MONDO:equivalentTo", source="ORDO:231237/e", source="Orphanet:231237", source="ORDO:231237/specific"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10012236 {source="ORDO:231237/e", source="Orphanet:231237"}
xref: MESH:C562716 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:231237 {source="MONDO:equivalentTo"}
xref: SCTID:16360009 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0016488 {source="Orphanet:231237"} ! beta-thalassemia associated with another hemoglobin anomaly
property_value: exactMatch http://identifiers.org/meddra/10012236
property_value: exactMatch http://identifiers.org/mesh/C562716
property_value: exactMatch http://identifiers.org/snomedct/16360009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271985
property_value: exactMatch Orphanet:231237
property_value: narrowMatch http://identifiers.org/omim/141749

[Term]
id: MONDO:0016490
name: hemoglobin C-beta-thalassemia syndrome
def: "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia." [Orphanet:231242]
subset: ordo_disease {source="Orphanet:231242"}
synonym: "C-beta-thalassemia" EXACT [Orphanet:231242]
synonym: "HBC-beta-thalassemia syndrome" EXACT [Orphanet:231242]
xref: ICD10:D58.2 {source="Orphanet:231242", source="ORDO:231242/attributed", source="ORDO:231242/ntbt"}
xref: Orphanet:231242 {source="MONDO:equivalentTo"}
xref: UMLS:CN201488 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016488 {source="Orphanet:231242"} ! beta-thalassemia associated with another hemoglobin anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201488
property_value: exactMatch Orphanet:231242

[Term]
id: MONDO:0016491
name: hemoglobin E-beta-thalassemia syndrome
def: "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)." [Orphanet:231249]
subset: ordo_disease {source="Orphanet:231249"}
synonym: "E-beta-thalassemia" EXACT [Orphanet:231249]
synonym: "HbE-beta-thalassemia syndrome" EXACT [Orphanet:231249]
xref: ICD10:D58.2 {source="ORDO:231249/attributed", source="ORDO:231249/ntbt", source="Orphanet:231249"}
xref: Orphanet:231249 {source="MONDO:equivalentTo"}
xref: UMLS:C0472777 {source="MONDO:equivalentTo", source="Orphanet:231249", source="ORDO:231249/e"}
is_a: MONDO:0016488 {source="Orphanet:231249"} ! beta-thalassemia associated with another hemoglobin anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0472777
property_value: exactMatch Orphanet:231249

[Term]
id: MONDO:0016492
name: beta-thalassemia with other manifestations
def: "Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder." [Orphanet:231386]
subset: ordo_group_of_disorders {source="Orphanet:231386"}
xref: ICD10:D58.2 {source="Orphanet:231386", source="ORDO:231386/attributed", source="ORDO:231386/ntbt"}
xref: Orphanet:231386 {source="MONDO:equivalentTo"}
is_a: MONDO:0017145 {source="Orphanet:231386"} ! beta-thalassemia and related diseases
property_value: exactMatch Orphanet:231386

[Term]
id: MONDO:0016493
name: variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231413"}
synonym: "variant of GBS" EXACT [Orphanet:231413]
synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231413/ntbt", source="Orphanet:231413"}
xref: Orphanet:231413 {source="MONDO:equivalentTo"}
xref: UMLS:CN201495 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016218 {source="MONDOLEX:0016493", source="Orphanet:231413"} ! Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201495
property_value: exactMatch Orphanet:231413

[Term]
id: MONDO:0016494
name: regional variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231416"}
synonym: "regional variant of GBS" EXACT [Orphanet:231416]
synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231416/ntbt", source="Orphanet:231416"}
xref: Orphanet:231416 {source="MONDO:equivalentTo"}
xref: UMLS:CN201496 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016493 {source="MONDOLEX:0016494", source="Orphanet:231416"} ! variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201496
property_value: exactMatch Orphanet:231416

[Term]
id: MONDO:0016495
name: functional variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231419"}
synonym: "functional variant of GBS" EXACT [Orphanet:231419]
synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231419/ntbt", source="Orphanet:231419"}
xref: Orphanet:231419 {source="MONDO:equivalentTo"}
xref: UMLS:CN201497 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016493 {source="MONDOLEX:0016495", source="Orphanet:231419"} ! variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201497
property_value: exactMatch Orphanet:231419

[Term]
id: MONDO:0016496
name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome
subset: ordo_disease {source="Orphanet:231426"}
synonym: "PCB variant of GBS" EXACT [Orphanet:231426]
synonym: "PCB variant of Guillain-BarrC) syndrome" EXACT [Orphanet:231426]
synonym: "PCB variant of Guillain-Barré syndrome" EXACT [Orphanet:231426]
synonym: "pharyngeal-cervical-brachial variant of Guillain-Barré syndrome" RELATED [Orphanet:231426]
synonym: "pharyngeal-cervical-brachial weakness" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of GBS" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of Guillain-Barré syndrome" EXACT [Orphanet:231426]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231426/ntbt", source="Orphanet:231426"}
xref: Orphanet:231426 {source="MONDO:equivalentTo"}
xref: UMLS:CN201499 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016494 {source="Orphanet:231426"} ! regional variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201499
property_value: exactMatch Orphanet:231426

[Term]
id: MONDO:0016497
name: paraparetic variant of Guillain-Barre syndrome
def: "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." [Orphanet:231445]
subset: ordo_disease {source="Orphanet:231445"}
synonym: "paraparetic variant of GBS" EXACT [Orphanet:231445]
synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [Orphanet:231445]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231445/ntbt", source="Orphanet:231445"}
xref: Orphanet:231445 {source="MONDO:equivalentTo"}
xref: UMLS:CN201500 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016495 {source="Orphanet:231445"} ! functional variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201500
property_value: exactMatch Orphanet:231445

[Term]
id: MONDO:0016498
name: acute pure sensory neuropathy
subset: ordo_disease {source="Orphanet:231450"}
synonym: "acute pure sensory GBS" EXACT [Orphanet:231450]
synonym: "acute pure sensory Guillain-BarrC) syndrome" EXACT [Orphanet:231450]
synonym: "acute pure sensory Guillain-Barré syndrome" EXACT [Orphanet:231450]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="Orphanet:231450", source="ORDO:231450/ntbt"}
xref: Orphanet:231450 {source="MONDO:equivalentTo"}
xref: UMLS:CN201501 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016495 {source="Orphanet:231450"} ! functional variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201501
property_value: exactMatch Orphanet:231450

[Term]
id: MONDO:0016499
name: acute pandysautonomia
def: "Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating." [Orphanet:231457]
subset: ordo_disease {source="Orphanet:231457"}
synonym: "acute panautonomic GBS" EXACT [Orphanet:231457]
synonym: "acute panautonomic Guillain-BarrC) syndrome" EXACT [Orphanet:231457]
synonym: "acute panautonomic Guillain-Barré syndrome" EXACT [Orphanet:231457]
synonym: "acute panautonomic neuropathy" EXACT [Orphanet:231457]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231457/ntbt", source="Orphanet:231457"}
xref: Orphanet:231457 {source="MONDO:equivalentTo"}
xref: SCTID:430042004 {source="MONDO:kboom-pr-1.00/0.78/7.31", source="MONDO:equivalentTo"}
xref: UMLS:C2315246 {source="MONDO:equivalentTo", source="ORDO:231457/e", source="Orphanet:231457"}
is_a: MONDO:0016495 {source="Orphanet:231457"} ! functional variant of Guillain-Barre syndrome
property_value: exactMatch http://identifiers.org/snomedct/430042004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2315246
property_value: exactMatch Orphanet:231457

[Term]
id: MONDO:0016500
name: acute sensory ataxic neuropathy
def: "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." [Orphanet:231466]
subset: ordo_disease {source="Orphanet:231466"}
synonym: "acute sensory ataxic GBS" EXACT [Orphanet:231466]
synonym: "acute sensory ataxic Guillain-BarrC) syndrome" EXACT [Orphanet:231466]
synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466]
synonym: "ASAN" EXACT [Orphanet:231466]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:231466/ntbt", source="Orphanet:231466"}
xref: Orphanet:231466 {source="MONDO:equivalentTo"}
xref: SCTID:766049000 {source="MONDO:equivalentTo"}
xref: UMLS:CN201503 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016495 {source="Orphanet:231466"} ! functional variant of Guillain-Barre syndrome
property_value: exactMatch http://identifiers.org/snomedct/766049000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201503
property_value: exactMatch Orphanet:231466

[Term]
id: MONDO:0016501
name: Hermansky-Pudlak syndrome with pulmonary fibrosis
def: "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." [Orphanet:231500]
subset: ordo_clinical_subtype {source="Orphanet:231500"}
synonym: "HPS with pulmonary fibrosis" EXACT [Orphanet:231500]
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="ORDO:231500/attributed", source="ORDO:231500/ntbt", source="Orphanet:231500"}
xref: Orphanet:231500 {source="MONDO:equivalentTo"}
xref: UMLS:CN201506 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017024 {source="Orphanet:231500"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease
is_a: MONDO:0019312 {source="Orphanet:231500"} ! Hermansky-Pudlak syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201506
property_value: exactMatch Orphanet:231500

[Term]
id: MONDO:0016502
name: Hermansky-Pudlak syndrome without pulmonary fibrosis
def: "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." [Orphanet:231512]
subset: ordo_clinical_subtype {source="Orphanet:231512"}
synonym: "HPS without pulmonary fibrosis" EXACT [Orphanet:231512]
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="ORDO:231512/attributed", source="ORDO:231512/ntbt", source="Orphanet:231512"}
xref: Orphanet:231512 {source="MONDO:equivalentTo"}
xref: UMLS:CN201507 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019312 {source="Orphanet:231512"} ! Hermansky-Pudlak syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201507
property_value: exactMatch Orphanet:231512

[Term]
id: MONDO:0016503
name: congenital erosive and vesicular dermatosis
subset: ordo_disease {source="Orphanet:231573"}
synonym: "CEVD" EXACT [Orphanet:231573]
synonym: "congenital erosive and vesicular dermatosis with reticulated supple scarring" EXACT [Orphanet:231573]
xref: Orphanet:231573 {source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:231573"} ! other epidermal disorder
property_value: exactMatch Orphanet:231573

[Term]
id: MONDO:0016504
name: primary unilateral adrenal hyperplasia
def: "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." [Orphanet:231580]
subset: ordo_disease {source="Orphanet:231580"}
synonym: "PUAH" EXACT [Orphanet:231580]
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="ORDO:231580/ntbt", source="Orphanet:231580"}
xref: Orphanet:231580 {source="MONDO:equivalentTo"}
xref: SCTID:715868005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274967 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016507 {source="Orphanet:231580"} ! rare surgically correctable form of primary aldosteronism
property_value: exactMatch http://identifiers.org/snomedct/715868005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274967
property_value: exactMatch Orphanet:231580

[Term]
id: MONDO:0016505
name: aldosterone-producing adrenal cortex adenoma
alt_id: MONDO:0006023
def: "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." [NCIT:C48451]
subset: ordo_disease {source="Orphanet:231625"}
synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [Orphanet:231625]
synonym: "aldosterone producing adrenal cortex adenoma" EXACT [NCIT:C48451]
synonym: "aldosterone producing adrenal cortical adenoma" EXACT [NCIT:C48451]
synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [NCIT:C48451]
synonym: "APAC" EXACT []
synonym: "Pure aldosterone-producing adrenocortical carcinoma" EXACT [Orphanet:231625]
synonym: "Pure aldosterone-secreting adrenocortical carcinoma" EXACT [Orphanet:231625]
synonym: "Pure APAC" EXACT [Orphanet:231625]
xref: EFO:1000015 {source="MONDO:equivalentTo"}
xref: ICD10:C74.0 {source="ORDO:231625/ntbt", source="Orphanet:231625"}
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="EFO:1000015"}
xref: MedDRA:10056950 {source="EFO:1000015"}
xref: NCIT:C48451 {source="MONDO:equivalentTo"}
xref: Orphanet:231625 {source="MONDO:equivalentTo"}
xref: UMLS:C1706762 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C48451", source="MONDO:equivalentTo"}
xref: UMLS:CN226945 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003924 {source="MONDOLEX:0016505", source="NCIT:C48451"} ! adrenal cortex adenoma
is_a: MONDO:0016507 {source="Orphanet:231625"} ! rare surgically correctable form of primary aldosteronism
property_value: closeMatch http://identifiers.org/meddra/10056950
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226945
property_value: exactMatch NCIT:C48451
property_value: exactMatch Orphanet:231625

[Term]
id: MONDO:0016506
name: ectopic aldosterone-producing tumor
def: "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." [Orphanet:231632]
subset: ordo_disease {source="Orphanet:231632"}
synonym: "Extra-adrenal aldosterone-producing tumor" EXACT [Orphanet:231632]
xref: ICD10:E26.8 {source="ORDO:231632/ntbt", source="Orphanet:231632"}
xref: Orphanet:231632 {source="MONDO:equivalentTo"}
xref: UMLS:CN201515 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016508 {source="Orphanet:231632"} ! rare non surgically correctable form of primary aldosteronism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201515
property_value: exactMatch Orphanet:231632

[Term]
id: MONDO:0016507
name: rare surgically correctable form of primary aldosteronism
def: "Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." [Orphanet:231637]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:231637"}
xref: Orphanet:231637 {source="MONDO:equivalentTo"}
xref: UMLS:CN226946 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001422 {source="Orphanet:231637"} ! primary aldosteronism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015899"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226946
property_value: exactMatch Orphanet:231637
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016508
name: rare non surgically correctable form of primary aldosteronism
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:231641"}
xref: Orphanet:231641 {source="MONDO:equivalentTo"}
xref: UMLS:CN226947 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001422 {source="Orphanet:231641"} ! primary aldosteronism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015899"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226947
property_value: exactMatch Orphanet:231641
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016509
name: microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
subset: ordo_malformation_syndrome {source="Orphanet:231736"}
synonym: "microcornea posterior megalolenticonus persistent fetal vasculature coloboma" RELATED [GARD:0010938]
synonym: "MPPC syndrome" EXACT [Orphanet:231736]
xref: GARD:0010938 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q15.8 {source="ORDO:231736/ntbt", source="Orphanet:231736"}
xref: Orphanet:231736 {source="MONDO:equivalentTo"}
xref: UMLS:CN201521 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020145 {source="Orphanet:231736"} ! developmental defect of the eye
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201521
property_value: exactMatch Orphanet:231736

[Term]
id: MONDO:0016510
name: epibulbar lipodermoid-preauricular appendage-polythelia syndrome
def: "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." [Orphanet:231742]
subset: ordo_malformation_syndrome {source="Orphanet:231742"}
xref: Orphanet:231742 {source="MONDO:equivalentTo"}
xref: UMLS:CN226948 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015334 {source="Orphanet:231742"} ! branchial arch or oral-acral syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226948
property_value: exactMatch Orphanet:231742

[Term]
id: MONDO:0016511
name: infectious embryofetopathy
subset: ordo_group_of_disorders {source="Orphanet:232035"}
xref: Orphanet:232035 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="Orphanet:232035"} ! infectious disease
is_a: MONDO:0018880 {source="Orphanet:232035"} ! rare teratologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019062"} ! rare
property_value: exactMatch Orphanet:232035

[Term]
id: MONDO:0016512
name: Kabuki syndrome
def: "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." [Orphanet:2322]
subset: ordo_malformation_syndrome {source="Orphanet:2322"}
synonym: "Kabuki make up syndrome" EXACT [DOID:0060473]
synonym: "Kabuki make-up syndrome" EXACT [Orphanet:2322]
synonym: "KMS" EXACT [DOID:0060473]
synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, Orphanet:2322]
synonym: "NKS" RELATED [GARD:0006810]
xref: DOID:0060473 {source="MONDO:equivalentTo"}
xref: GARD:0006810 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2322", source="ORDO:2322/attributed", source="ORDO:2322/ntbt"}
xref: MedDRA:10063935 {source="Orphanet:2322", source="ORDO:2322/e"}
xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="ORDO:2322/e", source="MONDO:equivalentTo"}
xref: NCIT:C124837 {source="MONDO:kboom-pr-0.91/0.74/0.91", source="MONDO:equivalentTo"}
xref: OMIMPS:147920 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2322 {source="DOID:0060473", source="MONDO:equivalentTo"}
xref: SCTID:313426007 {source="DOID:0060473", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.38"}
xref: UMLS:C0796004 {source="DOID:0060473", source="NCIT:C124837", source="Orphanet:2322", source="ORDO:2322/e", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2322", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015216 {source="Orphanet:2322"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015246 {source="Orphanet:2322"} ! syndromic anorectal malformation
is_a: MONDO:0015329 {source="Orphanet:2322", source="linkedlifedata"} ! malformation syndrome with short stature
is_a: MONDO:0015880 {source="Orphanet:2322"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0020159 {source="Orphanet:2322"} ! congenital entropion
is_a: MONDO:0020161 {source="Orphanet:2322"} ! congenital ectropion
property_value: closeMatch http://identifiers.org/snomedct/205805008
property_value: exactMatch DOID:0060473
property_value: exactMatch http://identifiers.org/meddra/10063935
property_value: exactMatch http://identifiers.org/mesh/C537705
property_value: exactMatch http://identifiers.org/snomedct/313426007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796004
property_value: exactMatch NCIT:C124837
property_value: exactMatch Orphanet:2322

[Term]
id: MONDO:0016513
name: alpha-thalassemia-related diseases
def: "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" [Orphanet:232288]
subset: ordo_group_of_disorders {source="Orphanet:232288"}
xref: ICD10:D56.0 {source="Orphanet:232288", source="ORDO:232288/attributed", source="ORDO:232288/ntbt", source="MONDO:directSiblingOf"}
xref: Orphanet:232288 {source="MONDO:equivalentTo"}
xref: UMLS:CN201534 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017144 {source="Orphanet:232288"} ! alpha-thalassemia and related diseases
relationship: disease_shares_features_of MONDO:0011399 ! alpha thalassemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201534
property_value: exactMatch Orphanet:232288

[Term]
id: MONDO:0016514
name: epidermolysis bullosa simplex with anodontia/hypodontia
subset: ordo_malformation_syndrome {source="Orphanet:2325"}
synonym: "Gamborg-Nielsen syndrome" EXACT [Orphanet:2325]
synonym: "Kallin syndrome" EXACT [Orphanet:2325]
xref: ICD10:Q81.0 {source="MONDO:subClassOf", source="ORDO:2325/attributed", source="ORDO:2325/ntbt", source="Orphanet:2325"}
xref: Orphanet:2325 {source="MONDO:equivalentTo"}
is_a: MONDO:0017610 {source="Orphanet:2325"} ! epidermolysis bullosa simplex
is_a: MONDO:0020014 {source="Orphanet:2325"} ! rare disease with odontological manifestation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432313
property_value: exactMatch Orphanet:2325

[Term]
id: MONDO:0016515
name: Kallmann syndrome-heart disease syndrome
def: "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." [Orphanet:2326]
subset: ordo_malformation_syndrome {source="Orphanet:2326"}
xref: ICD10:Q24.8 {source="ORDO:2326/attributed", source="ORDO:2326/ntbt", source="Orphanet:2326"}
xref: Orphanet:2326 {source="MONDO:equivalentTo"}
xref: UMLS:CN201538 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015890 {source="Orphanet:2326"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2326"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201538
property_value: exactMatch Orphanet:2326

[Term]
id: MONDO:0016516
name: Kenny-Caffey syndrome
def: "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." [NCIT:C130991]
subset: ordo_malformation_syndrome {source="Orphanet:2333"}
synonym: "Kenny syndrome" EXACT [Orphanet:2333]
xref: DC:0000549 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="Orphanet:2333", source="ORDO:2333/attributed", source="ORDO:2333/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537020 {source="Orphanet:2333", source="ORDO:2333/e", source="MONDO:equivalentTo"}
xref: NCIT:C130991 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:127000 {source="MONDO:equivalentTo", source="DC:0000549"}
xref: Orphanet:2333 {source="MONDO:equivalentTo"}
xref: SCTID:82837002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265291 {source="Orphanet:2333", source="ORDO:2333/e", source="MONDO:equivalentTo", source="NCIT:C130991"}
is_a: MONDO:0015329 {source="Orphanet:2333"} ! malformation syndrome with short stature
is_a: MONDO:0015895 {source="Orphanet:2333"} ! syndrome with hypoparathyroidism
is_a: MONDO:0019699 {source="Orphanet:2333"} ! slender bone dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/mesh/C537020
property_value: exactMatch http://identifiers.org/snomedct/82837002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265291
property_value: exactMatch NCIT:C130991
property_value: exactMatch Orphanet:2333

[Term]
id: MONDO:0016517
name: obsolete rare genetic vascular disease
def: "Rare genetic vascular disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:233655"}
synonym: "rare genetic vascular disease" EXACT []
xref: Orphanet:233655 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN201558 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201558
property_value: exactMatch Orphanet:233655
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005385

[Term]
id: MONDO:0016518
name: isolated punctate palmoplantar keratoderma
def: "A punctate palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:2338"}
synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338]
synonym: "isolated punctate PPK" EXACT [Orphanet:2338]
synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q82.8 {source="ORDO:2338/attributed", source="ORDO:2338/ntbt", source="Orphanet:2338"}
xref: Orphanet:2338 {source="MONDO:equivalentTo"}
is_a: MONDO:0017675 {source="MONDO:Redundant", source="Orphanet:2338"} ! punctate palmoplantar keratoderma
intersection_of: MONDO:0017675 ! punctate palmoplantar keratoderma
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274216
property_value: exactMatch Orphanet:2338

[Term]
id: MONDO:0016519
name: obsolete keratosis follicularis spinulosa decalvans
is_obsolete: true
replaced_by: MONDO:0000136

[Term]
id: MONDO:0016520
name: isolated Klippel-Feil syndrome
def: "Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." [Orphanet:2345]
subset: ordo_malformation_syndrome {source="Orphanet:2345"}
synonym: "congenital cervical vertebral fusion" EXACT [Orphanet:2345]
synonym: "congenital fused cervical segments" EXACT [Orphanet:2345]
synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345]
synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345]
synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated]
xref: COHD:433585 {source="MONDO:equivalentTo"}
xref: ICD10:Q76.1 {source="MONDO:subClassOf", source="ORDO:2345/e", source="ORDO:2345/specific", source="Orphanet:2345"}
xref: Orphanet:2345 {source="MONDO:equivalentTo"}
is_a: MONDO:0001029 ! Klippel-Feil syndrome
intersection_of: MONDO:0001029 ! Klippel-Feil syndrome
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022738
property_value: exactMatch Orphanet:2345

[Term]
id: MONDO:0016521
name: muscular pseudohypertrophy-hypothyroidism syndrome
def: "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." [Orphanet:2349]
subset: ordo_disease {source="Orphanet:2349"}
synonym: "Hoffman syndrome" EXACT [Orphanet:2349]
synonym: "Kocher-DebrC)-Semelaigne syndrome" EXACT [Orphanet:2349]
synonym: "Kocher-Debré-Semelaigne syndrome" EXACT [Orphanet:2349]
xref: ICD10:E03.1 {source="ORDO:2349/attributed", source="ORDO:2349/ntbt", source="Orphanet:2349"}
xref: Orphanet:2349 {source="MONDO:equivalentTo"}
xref: SCTID:716338001 {source="MONDO:kboom-pr-0.88/0.76/0.05", source="MONDO:equivalentTo"}
is_a: MONDO:0015778 {source="Orphanet:2349"} ! syndromic hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270958
property_value: exactMatch http://identifiers.org/snomedct/716338001
property_value: exactMatch Orphanet:2349

[Term]
id: MONDO:0016522
name: Kousseff syndrome
def: "Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term)." [Orphanet:2351]
subset: ordo_malformation_syndrome {source="Orphanet:2351"}
synonym: "sacral meningocele conotruncal heart defects" RELATED [GARD:0004752]
synonym: "sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck" RELATED [GARD:0004752]
synonym: "sacral meningocele-conotruncal heart defects syndrome" EXACT [Orphanet:2351]
xref: GARD:0004752 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2351/ntbt", source="Orphanet:2351"}
xref: MESH:C537223 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2351 {source="MONDO:equivalentTo"}
xref: SCTID:726083008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931444 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2351", source="ORDO:2351/e"}
is_a: MONDO:0017120 {source="Orphanet:2351"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C537223
property_value: exactMatch http://identifiers.org/snomedct/726083008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931444
property_value: exactMatch Orphanet:2351

[Term]
id: MONDO:0016523
name: bronchogenic cyst (disease)
def: "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." [Orphanet:2357]
subset: ordo_morphological_anomaly {source="Orphanet:2357"}
synonym: "bronchogenic cyst" EXACT [MONDO:ambiguous]
xref: GARD:0001025 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0100730 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J98.4 {source="Orphanet:2357", source="ORDO:2357/ntbt"}
xref: MedDRA:10064585 {source="Orphanet:2357", source="ORDO:2357/e"}
xref: MESH:D001994 {source="Orphanet:2357", source="ORDO:2357/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2357 {source="MONDO:equivalentTo"}
is_a: MONDO:0015221 {source="Orphanet:2357"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2357"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/meddra/10064585
property_value: exactMatch http://identifiers.org/mesh/D001994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006281
property_value: exactMatch Orphanet:2357

[Term]
id: MONDO:0016524
name: congenital vascular bone syndrome
def: "an alteration in limb growth caused by congenital vascular malformations in childhood" [PMID:8305978]
comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/114
subset: ordo_group_of_disorders {source="Orphanet:235832"}
xref: Orphanet:235832 {source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="Orphanet:235832"} ! bone disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015958"} ! rare
property_value: exactMatch Orphanet:235832

[Term]
id: MONDO:0016525
name: familial hyperaldosteronism
def: "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:235936]
subset: ordo_group_of_disorders {source="Orphanet:371861", source="Orphanet:235936"}
synonym: "FH" EXACT [Orphanet:235936]
synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic]
synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary]
xref: ICD10:E26.0 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:235936/attributed", source="ORDO:235936/ntbt", source="ORDO:371861/attributed", source="ORDO:371861/ntbt", source="Orphanet:371861", source="Orphanet:235936"}
xref: MESH:C580087 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:235936 {source="MONDO:equivalentTo"}
xref: Orphanet:371861 {source="MONDO:equivalentTo"}
xref: SCTID:703231005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3713420 {source="MONDO:equivalentTo", source="Orphanet:235936"}
xref: UMLS:CN229602 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003009 {source="MONDO:Redundant", source="Orphanet:371861"} ! hyperaldosteronism
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0016508 {source="Orphanet:235936"} ! rare non surgically correctable form of primary aldosteronism
intersection_of: MONDO:0003009 ! hyperaldosteronism
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C580087
property_value: exactMatch http://identifiers.org/snomedct/703231005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3713420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229602
property_value: exactMatch Orphanet:235936
property_value: exactMatch Orphanet:371861

[Term]
id: MONDO:0016526
name: trisomy 9p
def: "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." [Orphanet:236]
subset: ordo_malformation_syndrome {source="Orphanet:236"}
synonym: "Duplication 9p" EXACT [Orphanet:236]
synonym: "Duplication of the short arm of chromosome 9" EXACT [Orphanet:236]
synonym: "trisomy of the short arm of chromosome 9" EXACT [Orphanet:236]
synonym: "trisomy type 9p" EXACT [MONDORULE:4, Orphanet:236]
xref: ICD10:Q92.2 {source="Orphanet:236", source="ORDO:236/attributed", source="ORDO:236/ntbt"}
xref: Orphanet:236 {source="MONDO:equivalentTo"}
xref: UMLS:C0265428 {source="Orphanet:236", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016946 {source="Orphanet:236"} ! partial trisomy of the short arm of chromosome 9
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:236"} ! chromosomal anomaly with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265428
property_value: exactMatch Orphanet:236

[Term]
id: MONDO:0016527
name: glycogen storage disease due to lactate dehydrogenase deficiency
subset: ordo_disease {source="Orphanet:2364"}
synonym: "glycogenosis due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364]
synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364]
synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159]
synonym: "LDH deficiency" EXACT [Orphanet:2364]
xref: GARD:0003159 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E74.4 {source="Orphanet:2364", source="ORDO:2364/attributed", source="ORDO:2364/ntbt"}
xref: MESH:C580233 {source="MONDO:equivalentTo"}
xref: Orphanet:2364 {source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2364"} ! glycogen storage disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C580233
property_value: exactMatch Orphanet:2364

[Term]
id: MONDO:0016528
name: limb body wall complex
def: "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." [Orphanet:2369]
subset: gard_rare {source="GARD:0003251"}
subset: ordo_malformation_syndrome {source="Orphanet:2369"}
synonym: "aplasia of the cord" RELATED [GARD:0003251]
synonym: "body stalk anomaly" RELATED [GARD:0003251]
synonym: "Cyllosomas" RELATED [GARD:0003251]
synonym: "LBWC syndrome" EXACT [Orphanet:2369]
synonym: "limb-body wall complex" RELATED [GARD:0003251]
synonym: "short umbilical cord syndrome" RELATED [GARD:0003251]
synonym: "umbilical cord, short" RELATED [GARD:0003251]
xref: GARD:0003251 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2369/ntbt", source="Orphanet:2369"}
xref: Orphanet:2369 {source="MONDO:equivalentTo"}
xref: SCTID:716106000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.23"}
xref: UMLS:C4274839 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN201594 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015216 {source="Orphanet:2369"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266786
property_value: exactMatch http://identifiers.org/snomedct/716106000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201594
property_value: exactMatch Orphanet:2369
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex xsd:anyURI {source="GARD:0003251"}

[Term]
id: MONDO:0016529
name: duplication of urethra
def: "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." [Orphanet:237]
subset: gard_rare {source="GARD:0001975"}
subset: ordo_morphological_anomaly {source="Orphanet:237"}
synonym: "urethral duplication" RELATED [GARD:0001975]
xref: GARD:0001975 {source="MONDO:equivalentTo"}
xref: ICD10:Q64.7 {source="Orphanet:237", source="ORDO:237/inclusion", source="ORDO:237/ntbt"}
xref: ICD9:753.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:237 {source="MONDO:equivalentTo"}
xref: SCTID:69015003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
is_a: MONDO:0015934 {source="Orphanet:237"} ! non-syndromic urogenital tract malformation of male and female
is_a: MONDO:0019720 {source="Orphanet:237"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/69015003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266348
property_value: exactMatch Orphanet:237
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra xsd:anyURI {source="GARD:0001975"}

[Term]
id: MONDO:0016530
name: laryngocele
def: "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." [NCIT:C97062]
subset: gard_rare {source="GARD:0003191"}
subset: ordo_malformation_syndrome {source="Orphanet:2372"}
xref: GARD:0003191 {source="MONDO:equivalentTo"}
xref: ICD10:Q31.3 {source="MONDO:equivalentTo", source="ORDO:2372/e", source="Orphanet:2372"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10023885 {source="ORDO:2372/e", source="Orphanet:2372"}
xref: MESH:D059608 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C97062 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:2372 {source="MONDO:equivalentTo"}
xref: SCTID:51523009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.57"}
xref: UMLS:C0265761 {source="NCIT:C97062", source="MONDO:equivalentTo", source="ORDO:2372/e", source="Orphanet:2372"}
is_a: MONDO:0015504 {source="Orphanet:2372"} ! larynx anomaly
property_value: exactMatch http://identifiers.org/meddra/10023885
property_value: exactMatch http://identifiers.org/mesh/D059608
property_value: exactMatch http://identifiers.org/snomedct/51523009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265761
property_value: exactMatch NCIT:C97062
property_value: exactMatch Orphanet:2372
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3191/laryngocele xsd:anyURI {source="GARD:0003191"}

[Term]
id: MONDO:0016531
name: digestive duplication
subset: ordo_morphological_anomaly {source="Orphanet:238"}
xref: ICD10:Q45.8 {source="Orphanet:238", source="ORDO:238/inclusion", source="ORDO:238/ntbt"}
xref: Orphanet:238 {source="MONDO:equivalentTo"}
is_a: MONDO:0015211 {source="Orphanet:238"} ! non-syndromic intestinal malformation
property_value: exactMatch Orphanet:238

[Term]
id: MONDO:0016532
name: Lennox-Gastaut syndrome
def: "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." [Orphanet:2382]
subset: gard_rare {source="GARD:0009912"}
subset: ordo_disease {source="Orphanet:2382"}
synonym: "encephalopathy of childhood" RELATED [GARD:0009912]
synonym: "epileptic encephalopathy Lennox-Gastaut type" RELATED [GARD:0009912]
synonym: "Lennox syndrome" EXACT [DOID:0050561]
synonym: "LGS" EXACT [NCIT:C84816]
synonym: "macrocephaly and epileptic encephalopathy" RELATED [OMIM:606369]
xref: DOID:0050561 {source="MONDO:equivalentTo"}
xref: GARD:0009912 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="ORDO:2382/inclusion", source="Orphanet:2382", source="ORDO:2382/ntbt"}
xref: MedDRA:10048816 {source="Orphanet:2382", source="ORDO:2382/e"}
xref: MESH:D065768 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84816 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIM:606369 {source="DOID:0050561", source="MONDO:equivalentTo"}
xref: Orphanet:2382 {source="MONDO:equivalentTo"}
xref: SCTID:230418006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0238111 {source="MONDO:equivalentTo", source="NCIT:C84816", source="Orphanet:2382", source="ORDO:2382/e"}
is_a: MONDO:0000414 {source="DOID:0050561"} ! childhood electroclinical syndrome
is_a: MONDO:0002254 {source="MONDOLEX:0016532", source="NCIT:C84816"} ! syndromic disease
is_a: MONDO:0020072 {source="Orphanet:2382", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853372
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3807541
property_value: exactMatch DOID:0050561
property_value: exactMatch http://identifiers.org/meddra/10048816
property_value: exactMatch http://identifiers.org/mesh/C535500
property_value: exactMatch http://identifiers.org/mesh/D065768
property_value: exactMatch http://identifiers.org/omim/606369
property_value: exactMatch http://identifiers.org/snomedct/230418006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238111
property_value: exactMatch NCIT:C84816
property_value: exactMatch Orphanet:2382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome xsd:anyURI {source="GARD:0009912"}

[Term]
id: MONDO:0016533
name: apolipoprotein A-II amyloidosis
subset: ordo_clinical_subtype {source="Orphanet:238269"}
synonym: "AApoAII amyloidosis" EXACT [Orphanet:238269]
synonym: "familial amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "familial renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "hereditary amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "hereditary renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
xref: ICD10:E85.0 {source="Orphanet:238269", source="ORDO:238269/attributed", source="ORDO:238269/ntbt"}
xref: Orphanet:238269 {source="MONDO:equivalentTo"}
xref: UMLS:CN201610 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007099 {source="MONDOLEX:0016533", source="Orphanet:238269"} ! familial visceral amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201610
property_value: exactMatch Orphanet:238269

[Term]
id: MONDO:0016534
name: infundibulo-neurohypophysitis
subset: ordo_disease {source="Orphanet:238305"}
xref: ICD10:E23.6 {source="Orphanet:238305", source="ORDO:238305/ntbt"}
xref: Orphanet:238305 {source="MONDO:equivalentTo"}
is_a: MONDO:0019835 {source="Orphanet:238305"} ! primary hypophysitis
property_value: exactMatch Orphanet:238305

[Term]
id: MONDO:0016535
name: hypohidrotic ectodermal dysplasia
def: "Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." [Orphanet:238468]
comment: DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic
subset: gard_rare
subset: ordo_disease {source="Orphanet:238468"}
synonym: "anhidrotic ectodermal dysplasia" EXACT [GARD:0000076, Orphanet:238468]
synonym: "anhidrotic ectodermal dysplasia 1" EXACT [NCIT:C84562]
synonym: "anhidrotic ectodermal dysplasia 3" EXACT [DOID:14793]
synonym: "Christ-Siemens-Touraine syndrome" EXACT EXCLUDE [DOID:14793]
synonym: "CST syndrome" RELATED [GARD:0000076]
synonym: "ectodermal dysplasia 1, Anhydrotic" EXACT [DOID:14793]
synonym: "ectodermal dysplasia anhidrotic" RELATED [GARD:0000076]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [GARD:0000076]
synonym: "EDA" RELATED [GARD:0000076]
synonym: "HED" EXACT [GARD:0000076, Orphanet:238468]
synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [DOID:14793]
xref: DOID:14793 {source="MONDO:equivalentTo"}
xref: GARD:0000076 {source="MONDO:equivalentTo"}
xref: HP:0007607 {source="MONDO:otherHierarchy"}
xref: ICD10:Q82.4 {source="Orphanet:238468", source="ORDO:238468/e", source="ORDO:238468/specific"}
xref: NCIT:C84562 {source="MONDO:equivalentTo", source="DOID:14793"}
xref: Orphanet:238468 {source="MONDO:equivalentTo"}
xref: SCTID:239007005 {source="MONDO:equivalentTo", source="DOID:14793", source="MONDO:kboom-pr-0.84/0.66/0.22"}
is_a: MONDO:0019287 {source="MONDOLEX:0016535", source="Orphanet:238468", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020014 {source="Orphanet:238468"} ! rare disease with odontological manifestation
is_a: MONDO:0020194 {source="Orphanet:238468"} ! congenital alacrima
property_value: closeMatch http://identifiers.org/snomedct/4826006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1706004
property_value: exactMatch DOID:14793
property_value: exactMatch http://identifiers.org/snomedct/239007005
property_value: exactMatch NCIT:C84562
property_value: exactMatch Orphanet:238468

[Term]
id: MONDO:0016536
name: autosomal recessive lymphoproliferative disease
def: "Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." [Orphanet:238505]
subset: ordo_disease {source="Orphanet:238505"}
synonym: "CD27 deficiency" EXACT [Orphanet:238505]
xref: ICD10:D47.9 {source="Orphanet:238505", source="ORDO:238505/attributed", source="ORDO:238505/ntbt"}
xref: Orphanet:238505 {source="MONDO:equivalentTo"}
is_a: MONDO:0016537 {source="Orphanet:238505"} ! lymphoproliferative syndrome
is_a: MONDO:0018814 {source="Orphanet:238505"} ! non-severe combined immunodeficiency
property_value: exactMatch Orphanet:238505

[Term]
id: MONDO:0016537
name: lymphoproliferative syndrome
def: "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." [NCIT:C9308]
subset: ordo_group_of_disorders {source="Orphanet:238510"}
synonym: "lymphoproliferative disorder" EXACT [NCIT:C9308]
xref: DOID:0060704 {source="MONDO:equivalentTo"}
xref: MESH:D008232 {source="MONDO:equivalentTo"}
xref: NCIT:C9308 {source="MONDO:equivalentTo"}
xref: OMIMPS:308240 {source="MONDO:equivalentTo", source="DOID:0060704"}
xref: Orphanet:238510 {source="MONDO:equivalentTo"}
xref: SCTID:277466009 {source="MONDO:equivalentTo"}
xref: UMLS:CN201619 {source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:238510"} ! hereditary neoplastic syndrome
is_a: MONDO:0015710 {source="Orphanet:238510"} ! immune dysregulation disease with immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024314
property_value: exactMatch DOID:0060704
property_value: exactMatch http://identifiers.org/mesh/D008232
property_value: exactMatch http://identifiers.org/snomedct/277466009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201619
property_value: exactMatch NCIT:C9308
property_value: exactMatch Orphanet:238510

[Term]
id: MONDO:0016538
name: hypotonia-cystinuria syndrome type 1
subset: ordo_group_of_disorders {source="Orphanet:238517"}
synonym: "hypotonia-cystinuria type 1 syndrome" RELATED [Orphanet:238517]
xref: ICD10:E72.0 {source="ORDO:238517/attributed", source="ORDO:238517/ntbt", source="Orphanet:238517"}
xref: Orphanet:238517 {source="MONDO:equivalentTo"}
xref: UMLS:CN226952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="Orphanet:238517"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0015962 {source="Orphanet:238517"} ! inherited renal tubular disease
is_a: MONDO:0018246 {source="Orphanet:238517"} ! homozygous 2p21 microdeletion syndrome
is_a: MONDO:0019216 {source="Orphanet:238517"} ! inborn disorder of amino acid absorption and transport
is_a: MONDO:0019744 {source="Orphanet:238517"} ! rare renal tubular disease
relationship: excluded_subClassOf MONDO:0011669 {source="MONDO:cjm"} ! hypotonia-cystinuria syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226952
property_value: exactMatch Orphanet:238517

[Term]
id: MONDO:0016539
name: atypical hypotonia-cystinuria syndrome
def: "Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." [Orphanet:238523]
subset: ordo_disease {source="Orphanet:238523"}
synonym: "atypical HCS" EXACT [Orphanet:238523]
xref: ICD10:E72.0 {source="Orphanet:238523", source="ORDO:238523/attributed", source="ORDO:238523/ntbt"}
xref: Orphanet:238523 {source="MONDO:equivalentTo"}
xref: UMLS:CN201620 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011669 {source="MONDOLEX:0016539"} ! hypotonia-cystinuria syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201620
property_value: exactMatch Orphanet:238523

[Term]
id: MONDO:0016540
name: congenital secondary polycythemia
subset: ordo_group_of_disorders {source="Orphanet:238536"}
synonym: "congenital secondary erythrocytosis" EXACT [Orphanet:238536]
xref: ICD10:D75.1 {source="Orphanet:238536", source="ORDO:238536/attributed", source="ORDO:238536/ntbt"}
xref: Orphanet:238536 {source="MONDO:equivalentTo"}
is_a: MONDO:0020115 {source="MONDOLEX:0016540", source="Orphanet:238536"} ! secondary polycythemia
property_value: exactMatch Orphanet:238536

[Term]
id: MONDO:0016541
name: acquired secondary polycythemia
def: "An instance of secondary polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:238547"}
synonym: "acquired secondary erythrocytosis" EXACT [Orphanet:238547]
synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired]
xref: ICD10:D75.1 {source="Orphanet:238547", source="ORDO:238547/ntbt"}
xref: Orphanet:238547 {source="MONDO:equivalentTo"}
is_a: MONDO:0002438 ! acquired polycythemia
is_a: MONDO:0020115 {source="MONDO:Redundant", source="MONDOLEX:0016541", source="Orphanet:238547"} ! secondary polycythemia
intersection_of: MONDO:0020115 ! secondary polycythemia
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:238547

[Term]
id: MONDO:0016542
name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
def: "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." [Orphanet:238569]
subset: ordo_disease {source="Orphanet:238569"}
synonym: "autosomal recessive early-onset IBD" RELATED [GARD:0013016]
synonym: "autosomal recessive early-onset inflammatory bowel disease" RELATED [GARD:0013016]
synonym: "IL10-related early-onset IBD" EXACT [Orphanet:238569]
synonym: "IL10-related early-onset inflammatory bowel disease" EXACT [Orphanet:238569]
xref: GARD:0013016 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K52.8 {source="Orphanet:238569", source="ORDO:238569/attributed", source="ORDO:238569/ntbt"}
xref: Orphanet:238569 {source="MONDO:equivalentTo"}
xref: UMLS:CN201623 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005265 {source="Orphanet:238569"} ! inflammatory bowel disease
is_a: MONDO:0005554 {source="Orphanet:238569"} ! rheumatologic disorder
is_a: MONDO:0015710 {source="Orphanet:238569"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201623
property_value: exactMatch Orphanet:238569

[Term]
id: MONDO:0016543
name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency
def: "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." [Orphanet:238583]
subset: ordo_disease {source="Orphanet:238583"}
synonym: "hyperphenylalaninemia" BROAD [Orphanet:238583]
synonym: "hyperphenylalaninemia due to BH4 deficiency" EXACT [Orphanet:238583]
synonym: "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" EXACT [Orphanet:238583]
synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [Orphanet:238583]
xref: DC:0000202 {source="MONDO:equivalentTo"}
xref: GARD:0007751 {source="MONDO:equivalentTo"}
xref: ICD10:E70.1 {source="ORDO:238583/attributed", source="ORDO:238583/ntbt", source="Orphanet:238583"}
xref: Orphanet:238583 {source="MONDO:equivalentTo"}
xref: SCTID:68528007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751435 {source="MONDO:equivalentTo", source="Orphanet:238583"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017756 {source="Orphanet:238583"} ! disorder of pterin metabolism
relationship: disease_shares_features_of MONDO:0009861 {source="DC:0000202"} ! phenylketonuria
property_value: exactMatch http://identifiers.org/snomedct/68528007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751436
property_value: exactMatch Orphanet:238583

[Term]
id: MONDO:0016544
name: IgG4-related mesenteritis
def: "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." [Orphanet:238593]
subset: ordo_disease {source="Orphanet:238593"}
synonym: "isolated mesenteric lipodystrophy" EXACT [Orphanet:238593]
synonym: "lipomatous mesenteritis" EXACT [Orphanet:238593]
synonym: "liposclerotic mesenteritis" EXACT [Orphanet:238593]
synonym: "mesenteric lipogranuloma" EXACT [Orphanet:238593]
synonym: "mesenteric panniculitis" EXACT [Orphanet:238593]
synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593]
xref: GARD:0008169 {source="MONDO:equivalentTo"}
xref: ICD10:K65.8 {source="ORDO:238593/ntbt", source="Orphanet:238593"}
xref: Orphanet:238593 {source="MONDO:equivalentTo"}
xref: SCTID:1092381000119100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.23"}
is_a: MONDO:0017287 {source="Orphanet:238593"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025470
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267770
property_value: exactMatch http://identifiers.org/snomedct/1092381000119100
property_value: exactMatch Orphanet:238593

[Term]
id: MONDO:0016545
name: leukoencephalopathy-palmoplantar keratoderma syndrome
def: "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." [Orphanet:2386]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2386"}
synonym: "leukoencephalopathy palmoplantar keratoderma" RELATED [GARD:0003232]
xref: GARD:0003232 {source="MONDO:equivalentTo"}
xref: Orphanet:2386 {source="MONDO:equivalentTo", source="GARD:0003232"}
xref: UMLS:CN201627 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017680 {source="Orphanet:2386"} ! autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201627
property_value: exactMatch Orphanet:2386
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma xsd:anyURI {source="GARD:0003232"}

[Term]
id: MONDO:0016546
name: primary orthostatic tremor
def: "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." [Orphanet:238606]
subset: gard_rare {source="GARD:0008563"}
subset: ordo_disease {source="Orphanet:238606"}
synonym: "orthostatic tremor, primary" RELATED [GARD:0008563]
synonym: "OT" RELATED [GARD:0008563]
synonym: "pot" EXACT [Orphanet:238606]
synonym: "shaky leg syndrome" RELATED [GARD:0008563]
xref: GARD:0008563 {source="MONDO:equivalentTo"}
xref: ICD10:G25.2 {source="ORDO:238606/ntbt", source="Orphanet:238606"}
xref: MESH:C536418 {source="MONDO:equivalentTo", source="Orphanet:238606", source="ORDO:238606/e", source="MONDO:ontobio"}
xref: Orphanet:238606 {source="MONDO:equivalentTo"}
xref: SCTID:715902009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005395 {source="Orphanet:238606"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0017644"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C536418
property_value: exactMatch http://identifiers.org/snomedct/715902009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878578
property_value: exactMatch Orphanet:238606
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor xsd:anyURI {source="GARD:0008563"}

[Term]
id: MONDO:0016547
name: Beckwith-Wiedemann syndrome due to NSD1 mutation
subset: ordo_etiological_subtype {source="Orphanet:238613"}
xref: ICD10:Q87.3 {source="Orphanet:238613", source="ORDO:238613/attributed", source="ORDO:238613/ntbt"}
xref: Orphanet:238613 {source="MONDO:equivalentTo"}
xref: UMLS:CN201629 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0016547", source="Orphanet:238613"} ! Beckwith-Wiedemann syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201629
property_value: exactMatch Orphanet:238613

[Term]
id: MONDO:0016548
name: megacystis-megaureter syndrome
def: "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." [Orphanet:238637]
subset: ordo_disease {source="Orphanet:238637"}
synonym: "megaureter-megacystis syndrome" EXACT [Orphanet:238637]
xref: ICD10:Q62.7 {source="Orphanet:238637", source="ORDO:238637/ntbt"}
xref: Orphanet:238637 {source="MONDO:equivalentTo"}
xref: SCTID:253904001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019720 {source="Orphanet:238637"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/253904001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431752
property_value: exactMatch Orphanet:238637

[Term]
id: MONDO:0016549
name: primary megaureter, adult-onset form
subset: ordo_clinical_subtype {source="Orphanet:238642"}
xref: ICD10:Q62.2 {source="ORDO:238642/attributed", source="ORDO:238642/ntbt", source="Orphanet:238642"}
xref: Orphanet:238642 {source="MONDO:equivalentTo"}
xref: UMLS:CN201632 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018960 {source="Orphanet:238642"} ! congenital primary megaureter
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201632
property_value: exactMatch Orphanet:238642

[Term]
id: MONDO:0016550
name: congenital primary megaureter, obstructed form
subset: ordo_clinical_subtype {source="Orphanet:238646"}
xref: ICD10:Q62.2 {source="Orphanet:238646", source="ORDO:238646/attributed", source="ORDO:238646/ntbt"}
xref: Orphanet:238646 {source="MONDO:equivalentTo"}
is_a: MONDO:0018960 {source="Orphanet:238646"} ! congenital primary megaureter
property_value: exactMatch Orphanet:238646

[Term]
id: MONDO:0016551
name: congenital primary megaureter, refluxing form
subset: ordo_clinical_subtype {source="Orphanet:238650"}
xref: ICD10:Q62.2 {source="ORDO:238650/attributed", source="ORDO:238650/ntbt", source="Orphanet:238650"}
xref: Orphanet:238650 {source="MONDO:equivalentTo"}
is_a: MONDO:0018960 {source="Orphanet:238650"} ! congenital primary megaureter
property_value: exactMatch Orphanet:238650

[Term]
id: MONDO:0016552
name: congenital primary megaureter, nonrefluxing and unobstructed form
subset: ordo_clinical_subtype {source="Orphanet:238654"}
xref: ICD10:Q62.2 {source="Orphanet:238654", source="ORDO:238654/attributed", source="ORDO:238654/ntbt"}
xref: Orphanet:238654 {source="MONDO:equivalentTo"}
is_a: MONDO:0018960 {source="Orphanet:238654"} ! congenital primary megaureter
property_value: exactMatch Orphanet:238654

[Term]
id: MONDO:0016553
name: isolated congenital hypogonadotropic hypogonadism
def: "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:238666"}
synonym: "nonsyndromic congenital hypogonadotropic hypogonadism" EXACT [MONDO:patterns/isolated]
xref: ICD10:E23.0 {source="Orphanet:238666", source="MONDO:relatedTo", source="ORDO:238666/attributed", source="ORDO:238666/ntbt"}
xref: Orphanet:238666 {source="MONDO:equivalentTo"}
xref: UMLS:CN924907 {source="MONDO:equivalentTo"}
is_a: MONDO:0015770 {source="MONDO:Redundant", source="MONDOLEX:0016553", source="Orphanet:238666"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018398 {source="Orphanet:238666"} ! female infertility due to a congenital hypogonadotropic hypogonadism
intersection_of: MONDO:0015770 ! congenital hypogonadotropic hypogonadism
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924907
property_value: exactMatch Orphanet:238666

[Term]
id: MONDO:0016554
name: neonatal iodine exposure
def: "Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." [Orphanet:238688]
subset: ordo_disease {source="Orphanet:238688"}
synonym: "iodine antenatal exposure" RELATED [GARD:0003025]
xref: GARD:0003025 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P72.2 {source="Orphanet:238688", source="ORDO:238688/ntbt"}
xref: Orphanet:238688 {source="MONDO:equivalentTo"}
xref: UMLS:CN226956 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016556 {source="Orphanet:238688"} ! transient congenital hypothyroidism due to neonatal factor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226956
property_value: exactMatch Orphanet:238688

[Term]
id: MONDO:0016555
name: transient congenital hypothyroidism due to maternal factor
subset: ordo_group_of_disorders {source="Orphanet:238696"}
xref: ICD10:P72.2 {source="ORDO:238696/ntbt", source="Orphanet:238696"}
xref: Orphanet:238696 {source="MONDO:equivalentTo"}
is_a: MONDO:0015792 {source="MONDOLEX:0016555", source="Orphanet:238696"} ! transient congenital hypothyroidism
property_value: exactMatch Orphanet:238696

[Term]
id: MONDO:0016556
name: transient congenital hypothyroidism due to neonatal factor
subset: ordo_group_of_disorders {source="Orphanet:238699"}
xref: ICD10:P72.2 {source="Orphanet:238699", source="ORDO:238699/ntbt"}
xref: Orphanet:238699 {source="MONDO:equivalentTo"}
is_a: MONDO:0015792 {source="MONDOLEX:0016556", source="Orphanet:238699"} ! transient congenital hypothyroidism
property_value: exactMatch Orphanet:238699

[Term]
id: MONDO:0016557
name: leukonychia totalis
def: "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." [Orphanet:2387]
subset: ordo_disease {source="Orphanet:2387"}
synonym: "hereditary white nails" RELATED [GARD:0009759]
synonym: "total leukonychia" RELATED [GARD:0009759]
xref: GARD:0009759 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q84.4 {source="Orphanet:2387", source="ORDO:2387/attributed", source="ORDO:2387/ntbt"}
xref: MESH:C535889 {source="ORDO:2387/e", source="Orphanet:2387", source="MONDO:equivalentTo"}
xref: Orphanet:2387 {source="MONDO:equivalentTo"}
xref: SCTID:763792009 {source="MONDO:equivalentTo"}
is_a: MONDO:0019284 {source="Orphanet:2387"} ! inherited isolated nail anomaly
property_value: exactMatch http://identifiers.org/mesh/C535889
property_value: exactMatch http://identifiers.org/snomedct/763792009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0544855
property_value: exactMatch Orphanet:2387

[Term]
id: MONDO:0016558
name: familial congenital mirror movements
alt_id: MONDO:0000140
def: "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder]
subset: ordo_disease {source="Orphanet:238722"}
synonym: "bimanual synkinesis" RELATED [GARD:0012551]
synonym: "CMM" RELATED [GARD:0012551]
synonym: "congenital mirror movement disorder" RELATED [DOID:0111153, GARD:0012551]
synonym: "congenital mirror movements" RELATED [GARD:0012551]
synonym: "familial congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "familial congenital mirror movements" EXACT [DOID:0111153]
synonym: "hereditary congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "hereditary congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722]
synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "isolated congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722]
xref: DC:0000563 {source="MONDO:equivalentTo"}
xref: DOID:0111153 {source="MONDO:equivalentTo"}
xref: GARD:0012551 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: OMIMPS:157600 {source="MONDO:equivalentTo", source="DC:0000563"}
xref: Orphanet:238722 {source="MONDO:equivalentTo", source="DOID:0111153"}
xref: SCTID:229247004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005395 {source="DC:0000563", source="DOID:0111153", source="Orphanet:238722", source="Orphanet:238722/inferred", source="linkedlifedata"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015957"} ! rare
property_value: exactMatch DOID:0111153
property_value: exactMatch http://identifiers.org/snomedct/229247004
property_value: exactMatch Orphanet:238722

[Term]
id: MONDO:0016559
name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea
def: "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." [Orphanet:238763]
subset: ordo_malformation_syndrome {source="Orphanet:238763"}
synonym: "megalocornea-spherophakia-secondary glaucoma syndrome" EXACT [Orphanet:238763]
xref: GARD:0010942 {source="MONDO:equivalentTo"}
xref: ICD10:Q15.8 {source="ORDO:238763/attributed", source="ORDO:238763/ntbt", source="Orphanet:238763"}
xref: Orphanet:238763 {source="MONDO:equivalentTo"}
xref: UMLS:CN201642 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009633 ! microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
is_a: MONDO:0018174 {source="Orphanet:238763"} ! hereditary glaucoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201642
property_value: exactMatch Orphanet:238763

[Term]
id: MONDO:0016560
name: ptosis-syndactyly-learning difficulties syndrome
subset: ordo_malformation_syndrome {source="Orphanet:238766"}
xref: Orphanet:238766 {source="MONDO:equivalentTo"}
xref: UMLS:CN201643 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:238766", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:238766"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201643
property_value: exactMatch Orphanet:238766

[Term]
id: MONDO:0016561
name: 1q44 microdeletion syndrome
def: "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." [Orphanet:238769]
subset: gard_rare {source="GARD:0010943"}
subset: ordo_malformation_syndrome {source="Orphanet:238769"}
synonym: "chromosome 1q44 microdeletion syndrome" RELATED [GARD:0010943]
synonym: "Del(1)(q44)" EXACT [Orphanet:238769]
synonym: "monosomy 1q44" EXACT [Orphanet:238769]
xref: GARD:0010943 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:238769", source="ORDO:238769/attributed", source="ORDO:238769/ntbt"}
xref: Orphanet:238769 {source="MONDO:equivalentTo"}
xref: SCTID:719649004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C4304540 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201644 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016900 {source="Orphanet:238769"} ! partial deletion of the long arm of chromosome 1
property_value: exactMatch http://identifiers.org/snomedct/719649004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201644
property_value: exactMatch Orphanet:238769
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome xsd:anyURI {source="GARD:0010943"}

[Term]
id: MONDO:0016562
name: progressive supranuclear palsy-pure akinesia with gait freezing syndrome
def: "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." [Orphanet:240094]
subset: ordo_clinical_subtype {source="Orphanet:240094"}
synonym: "PSP-PAGF" EXACT [Orphanet:240094]
synonym: "PSP-pure akinesia with gait freezing" EXACT [Orphanet:240094]
xref: ICD10:G23.1 {source="ORDO:240094/attributed", source="ORDO:240094/ntbt", source="Orphanet:240094"}
xref: Orphanet:240094 {source="MONDO:equivalentTo"}
xref: UMLS:CN226961 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020488 {source="Orphanet:240094"} ! atypical progressive supranuclear palsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226961
property_value: exactMatch Orphanet:240094

[Term]
id: MONDO:0016563
name: progressive supranuclear palsy-corticobasal syndrome
def: "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." [Orphanet:240103]
subset: ordo_clinical_subtype {source="Orphanet:240103"}
synonym: "PSP-CBS" EXACT [Orphanet:240103]
synonym: "PSP-corticobasal syndrome" EXACT [Orphanet:240103]
xref: ICD10:G23.1 {source="ORDO:240103/attributed", source="ORDO:240103/ntbt", source="Orphanet:240103"}
xref: Orphanet:240103 {source="MONDO:equivalentTo"}
xref: UMLS:CN201681 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020488 {source="Orphanet:240103"} ! atypical progressive supranuclear palsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201681
property_value: exactMatch Orphanet:240103

[Term]
id: MONDO:0016564
name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome
def: "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." [Orphanet:240112]
subset: ordo_clinical_subtype {source="Orphanet:240112"}
synonym: "progressive supranuclear palsy-apraxia of speech syndrome" EXACT [Orphanet:240112]
synonym: "PSP-AOS" EXACT [Orphanet:240112]
synonym: "PSP-PNFA" EXACT [Orphanet:240112]
xref: ICD10:G23.1 {source="ORDO:240112/attributed", source="ORDO:240112/ntbt", source="Orphanet:240112"}
xref: Orphanet:240112 {source="MONDO:equivalentTo"}
xref: UMLS:CN226962 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020488 {source="Orphanet:240112"} ! atypical progressive supranuclear palsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226962
property_value: exactMatch Orphanet:240112

[Term]
id: MONDO:0016565
name: syndromic genetic obesity
subset: ordo_group_of_disorders {source="Orphanet:240371"}
synonym: "syndrome associated with obesity (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with obesity (disease)" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic obesity (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:240371 {source="MONDO:equivalentTo"}
xref: UMLS:CN226963 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015330 {source="Orphanet:240371"} ! overgrowth/obesity syndrome
is_a: MONDO:0019182 {source="MONDO:Entailed", source="Orphanet:240371"} ! monogenic obesity
intersection_of: MONDO:0019182 ! monogenic obesity
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226963
property_value: exactMatch Orphanet:240371

[Term]
id: MONDO:0016566
name: loiasis
def: ", endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms)." [Orphanet:2404]
subset: gard_rare {source="GARD:0003283"}
subset: ordo_disease {source="Orphanet:2404"}
synonym: "African eye worm" RELATED [GARD:0003283]
synonym: "Loa loa filariasis" RELATED [GARD:0003283]
xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"}
xref: EFO:1000729 {source="MONDO:equivalentTo"}
xref: GARD:0003283 {source="MONDO:equivalentTo"}
xref: ICD10:B74.3 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="Orphanet:2404", source="DOID:13523"}
xref: ICD9:125.2 {source="DOID:13523"}
xref: MedDRA:10024797 {source="ORDO:2404/e", source="Orphanet:2404"}
xref: MESH:D008118 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="Orphanet:2404", source="MONDO:ontobio", source="DOID:13523"}
xref: NCIT:C34784 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13523"}
xref: Orphanet:2404 {source="MONDO:equivalentTo"}
xref: SCTID:44250009 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo", source="DOID:13523"}
xref: UMLS:C0023968 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="NCIT:C34784", source="Orphanet:2404", source="DOID:13523"}
is_a: MONDO:0016075 {source="DOID:13523", source="ICD10:B74.3", source="MESH:D008118", source="Orphanet:2404", source="linkedlifedata"} ! filariasis
property_value: exactMatch DOID:13523
property_value: exactMatch http://identifiers.org/meddra/10024797
property_value: exactMatch http://identifiers.org/mesh/D008118
property_value: exactMatch http://identifiers.org/snomedct/44250009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023968
property_value: exactMatch NCIT:C34784
property_value: exactMatch Orphanet:2404
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3283/loiasis xsd:anyURI {source="GARD:0003283"}

[Term]
id: MONDO:0016567
name: locked-in syndrome
def: "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." [Orphanet:2406]
subset: gard_rare {source="GARD:0006919"}
subset: ordo_disease {source="Orphanet:2406"}
synonym: "Cerebromedullospinal disconnection" EXACT [Orphanet:2406]
synonym: "locked in syndrome" EXACT [DOID:12697]
synonym: "locked-in state" EXACT [DOID:12697, ICD9CM_2006:344.81]
xref: COHD:434644 {source="MONDO:equivalentTo"}
xref: DOID:12697 {source="MONDO:equivalentTo"}
xref: GARD:0006919 {source="MONDO:equivalentTo"}
xref: ICD10:G83.5 {source="DOID:12697"}
xref: ICD10:G83.8 {source="ORDO:2406/ntbt", source="Orphanet:2406"}
xref: ICD9:344.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:12697"}
xref: MedDRA:10024792 {source="ORDO:2406/e", source="Orphanet:2406"}
xref: Orphanet:2406 {source="MONDO:equivalentTo"}
xref: SCTID:38023001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12697"}
is_a: MONDO:0005071 {source="Orphanet:2406"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch DOID:12697
property_value: exactMatch http://identifiers.org/meddra/10024792
property_value: exactMatch http://identifiers.org/snomedct/38023001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023944
property_value: exactMatch Orphanet:2406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome xsd:anyURI {source="GARD:0006919"}

[Term]
id: MONDO:0016568
name: Lowe-Kohn-Cohen syndrome
def: "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." [Orphanet:2408]
comment: Editor note: check GARD assignment
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2408"}
synonym: "deafness - nephritis - ano-rectal malformation" RELATED [GARD:0001695]
synonym: "deafness nephritis anorectal malformation" RELATED [GARD:0001695]
synonym: "deafness-nephritis-ano-rectal malformation syndrome" EXACT [Orphanet:2408]
synonym: "dominant ano-rectal malformation, nephritis and nerve-deafness" RELATED [GARD:0001695]
synonym: "Lowe Kohn Cohen syndrome" RELATED [GARD:0001695]
xref: GARD:0001695 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2408/attributed", source="ORDO:2408/ntbt", source="Orphanet:2408"}
xref: MESH:C535996 {source="MONDO:equivalentTo"}
xref: Orphanet:2408 {source="MONDO:equivalentTo"}
xref: SCTID:766249007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931080 {source="GARD:0001695", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2408"}
is_a: MONDO:0015246 {source="Orphanet:2408"} ! syndromic anorectal malformation
is_a: MONDO:0019589 {source="Orphanet:2408"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C535996
property_value: exactMatch http://identifiers.org/snomedct/766249007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931080
property_value: exactMatch Orphanet:2408
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation xsd:anyURI {source="GARD:0001695"}

[Term]
id: MONDO:0016569
name: obsolete rare lymphatic malformation
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/416 xsd:string
is_obsolete: true
replaced_by: MONDO:0002013

[Term]
id: MONDO:0016570
name: primary pulmonary lymphoma
def: "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG) (see these terms)." [Orphanet:2420]
comment: Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma
subset: ordo_disease {source="Orphanet:2420"}
xref: ICD10:C85.7 {source="Orphanet:2420", source="ORDO:2420/ntbt"}
xref: MedDRA:10037418 {source="ORDO:2420/e", source="Orphanet:2420"}
xref: Orphanet:2420 {source="MONDO:equivalentTo"}
xref: SCTID:718200007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0519063 {source="ORDO:2420/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:2420", source="MONDO:equivalentTo"}
xref: UMLS:C4273669 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015119 {source="Orphanet:2420"} ! bronchopulmonary tumor
is_a: MONDO:0017207 {source="Orphanet:2420"} ! primary organ-specific lymphoma
property_value: exactMatch http://identifiers.org/meddra/10037418
property_value: exactMatch http://identifiers.org/snomedct/718200007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0519063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273669
property_value: exactMatch Orphanet:2420

[Term]
id: MONDO:0016571
name: macrocephaly-short stature-paraplegia syndrome
def: "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." [Orphanet:2427]
subset: ordo_malformation_syndrome {source="Orphanet:2427"}
synonym: "Volcke-Soekarman syndrome" EXACT [Orphanet:2427]
xref: MESH:C537718 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2427 {source="MONDO:equivalentTo"}
xref: SCTID:722033000 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:2427"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017121 {source="Orphanet:2427"} ! syndrome with a Dandy-Walker malformation as major feature
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931595
property_value: exactMatch http://identifiers.org/mesh/C537718
property_value: exactMatch http://identifiers.org/snomedct/722033000
property_value: exactMatch Orphanet:2427

[Term]
id: MONDO:0016572
name: central bilateral macrogyria
def: "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." [Orphanet:2431]
subset: ordo_disease {source="Orphanet:2431"}
xref: ICD10:Q04.8 {source="Orphanet:2431", source="ORDO:2431/attributed", source="ORDO:2431/ntbt"}
xref: Orphanet:2431 {source="MONDO:equivalentTo"}
xref: SCTID:720632004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4303949 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017094 {source="Orphanet:2431"} ! cerebral cortical dysplasia
property_value: exactMatch http://identifiers.org/snomedct/720632004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303949
property_value: exactMatch Orphanet:2431

[Term]
id: MONDO:0016573
name: acute fatty liver of pregnancy
def: "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." [Orphanet:243367]
subset: gard_rare {source="GARD:0009578"}
subset: ordo_disease {source="Orphanet:243367"}
synonym: "acute fatty liver, gestational" RELATED [GARD:0009578]
synonym: "AFLP" EXACT [Orphanet:243367]
xref: GARD:0009578 {source="MONDO:equivalentTo"}
xref: ICD10:O26.6 {source="Orphanet:243367", source="ORDO:243367/ntbt"}
xref: MedDRA:10000746 {source="Orphanet:243367", source="ORDO:243367/e"}
xref: MESH:C537957 {source="Orphanet:243367", source="ORDO:243367/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:243367 {source="MONDO:equivalentTo"}
xref: SCTID:716379000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1455728 {source="Orphanet:243367", source="ORDO:243367/e", source="MONDO:equivalentTo"}
is_a: MONDO:0024575 {source="Orphanet:243367"} ! pregnancy disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015582"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10000746
property_value: exactMatch http://identifiers.org/mesh/C537957
property_value: exactMatch http://identifiers.org/snomedct/716379000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1455728
property_value: exactMatch Orphanet:243367
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy xsd:anyURI {source="GARD:0009578"}

[Term]
id: MONDO:0016574
name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
def: "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." [Orphanet:2435]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2435"}
synonym: "congenital hypomelanotic and hypermelanotic macules" RELATED [GARD:0003347, MESH:C537836]
synonym: "hereditary congenital hypopigmented and hyperpigmented macules" RELATED [GARD:0003347, MESH:C537836]
synonym: "macules hereditary congenital hypopigmented and hyperpigmented" RELATED [GARD:0003347]
synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" RELATED [MESH:C537836]
synonym: "Westerhof Beemer Cormane syndrome" RELATED [GARD:0003347, MESH:C537836]
synonym: "Westerhof-Beemer-Cormane syndrome" EXACT [Orphanet:2435]
xref: GARD:0003347 {source="MONDO:equivalentTo"}
xref: MESH:C537836 {source="MONDO:equivalentTo"}
xref: Orphanet:2435 {source="GARD:0003347", source="MONDO:equivalentTo"}
xref: SCTID:733469003 {source="MONDO:equivalentTo"}
xref: UMLS:C1835172 {source="GARD:0003347", source="MONDO:equivalentTo", source="Orphanet:2435", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019288 {source="MESH:C537836", source="Orphanet:2435"} ! skin pigmentation disease
property_value: closeMatch http://identifiers.org/omim/154000
property_value: exactMatch http://identifiers.org/mesh/C537836
property_value: exactMatch http://identifiers.org/snomedct/733469003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835172
property_value: exactMatch Orphanet:2435
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented xsd:anyURI {source="GARD:0003347"}

[Term]
id: MONDO:0016575
name: primary ciliary dyskinesia
def: "Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms)." [Orphanet:244]
comment: Editor note: we deliberately merge two MESHes here
subset: ordo_disease {source="Orphanet:244"}
synonym: "bronchiectasis, chronic sinusitis and dextrocardia syndrome" RELATED [MONDO:cjm]
synonym: "ciliary dyskinesia primary" RELATED [GARD:0004484]
synonym: "ciliary motility disorder" EXACT [DOID:9562]
synonym: "Dextrocardia bronchiectasis and sinusitis" RELATED [GARD:0006815]
synonym: "Dextrocardia-bronchiectasis-sinusitis syndrome" RELATED [GARD:0006815]
synonym: "ICS" RELATED [GARD:0004484]
synonym: "Immotile cilia syndrome, Kartagener type" RELATED [GARD:0006815]
synonym: "immotile ciliary syndrome" EXACT [DOID:9562]
synonym: "Kartagener syndrome" EXACT [MONDO:0000260]
synonym: "Kartagener's syndrome" EXACT [DOID:0050144]
synonym: "kartageners syndrome" RELATED [MONDO:cjm]
synonym: "PCD" EXACT [Orphanet:244]
synonym: "Primary ciliary dyskinesia and situs inversus" RELATED [GARD:0006815]
synonym: "Primary ciliary dyskinesia, Kartagener type" RELATED [GARD:0006815]
synonym: "Siewert syndrome" RELATED [GARD:0006815, MONDO:cjm]
xref: DOID:0050144 {source="MONDO:equivalentTo"}
xref: DOID:9562 {source="MONDO:equivalentTo"}
xref: GARD:0004484 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0006815 {source="MONDO:equivalentTo"}
xref: ICD10:Q34.8 {source="ORDO:244/attributed", source="ORDO:244/ntbt", source="Orphanet:244"}
xref: MedDRA:10069713 {source="ORDO:244/e", source="Orphanet:244"}
xref: MESH:D002925 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: MESH:D007619 {source="DOID:0050144", source="MONDO:equivalentTo"}
xref: NCIT:C84797 {source="DOID:0050144", source="MONDO:equivalentTo"}
xref: OMIMPS:244400 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: Orphanet:244 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: SCTID:42402006 {source="DOID:0050144", source="MONDO:kboom-pr-0.88/0.76/0.15", source="MONDO:equivalentTo"}
xref: SCTID:86204009 {source="DOID:0050144", source="MONDO:equivalentTo", source="DOID:9562"}
xref: UMLS:C0008780 {source="MONDO:equivalentTo", source="DOID:9562"}
is_a: MONDO:0002254 {source="MONDOLEX:0016575", source="NCIT:C84797"} ! syndromic disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:244"} ! respiratory system disease
is_a: MONDO:0005308 {source="DOID:0050144/inferred", source="DOID:9562", source="Wikipedia:Ciliopathy"} ! ciliopathy
relationship: excluded_subClassOf MONDO:0018395 {source="Orphanet:244"} ! male infertility due to sperm motility disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/9057007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022521
property_value: exactMatch DOID:0050144
property_value: exactMatch DOID:9562
property_value: exactMatch http://identifiers.org/meddra/10069713
property_value: exactMatch http://identifiers.org/mesh/D002925
property_value: exactMatch http://identifiers.org/mesh/D007619
property_value: exactMatch http://identifiers.org/snomedct/42402006
property_value: exactMatch http://identifiers.org/snomedct/86204009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008780
property_value: exactMatch NCIT:C84638
property_value: exactMatch NCIT:C84797
property_value: exactMatch Orphanet:244

[Term]
id: MONDO:0016576
name: split hand-foot malformation
def: "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." [Orphanet:2440]
subset: ordo_malformation_syndrome {source="Orphanet:2440"}
synonym: "ectrodactyly" EXACT [Orphanet:2440]
synonym: "FEWER digits" EXACT [NCIT:C75000]
synonym: "isolated split hand-split foot malformation" RELATED [Orphanet:2440]
synonym: "lobster-claw deformity" EXACT [DOID:0090020, Orphanet:2440]
synonym: "SHFM" EXACT [Orphanet:2440]
synonym: "split hand foot malformation" EXACT [Orphanet:2440]
synonym: "split hand-split foot malformation" RELATED [Orphanet:2440]
synonym: "split-hand deformity" EXACT [DOID:0090020]
synonym: "split-hand/foot malformation" EXACT [NCIT:C75000]
xref: DOID:0090020 {source="MONDO:equivalentTo"}
xref: GARD:0006319 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="ORDO:2440/specific", source="ORDO:2440/btnt"}
xref: ICD10:Q72.7 {source="Orphanet:2440", source="ORDO:2440/specific", source="ORDO:2440/btnt"}
xref: NCIT:C75000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.67/1.27"}
xref: OMIMPS:183600 {source="DOID:0090020", source="MONDO:equivalentTo", source="DC:0000416"}
xref: Orphanet:2440 {source="DOID:0090020", source="MONDO:equivalentTo"}
xref: SCTID:81208006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.66/0.97"}
xref: UMLS:C0265554 {source="Orphanet:2440", source="DOID:0090020", source="MONDO:equivalentTo", source="NCIT:C75000", source="ORDO:2440/e"}
is_a: MONDO:0017423 {source="Orphanet:2440"} ! split hand or/and split foot malformation
property_value: exactMatch DOID:0090020
property_value: exactMatch http://identifiers.org/snomedct/81208006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265554
property_value: exactMatch NCIT:C75000
property_value: exactMatch Orphanet:2440

[Term]
id: MONDO:0016577
name: biliary atresia with splenic malformation syndrome
def: "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." [Orphanet:244283]
subset: ordo_malformation_syndrome {source="Orphanet:244283"}
synonym: "BASM syndrome" EXACT [Orphanet:244283]
xref: ICD10:Q44.2 {source="Orphanet:244283", source="ORDO:244283/ntbt"}
xref: Orphanet:244283 {source="MONDO:equivalentTo"}
xref: SCTID:717156002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274029 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN201730 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015214 {source="Orphanet:244283"} ! syndromic visceral malformation
relationship: disease_has_feature MONDO:0008867 ! biliary atresia
property_value: exactMatch http://identifiers.org/snomedct/717156002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274029
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201730
property_value: exactMatch Orphanet:244283

[Term]
id: MONDO:0016578
name: mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
def: "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms)." [Orphanet:2443]
subset: ordo_group_of_disorders {source="Orphanet:2443"}
synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [Orphanet:2443]
synonym: "OXPHOS disease due to nDNA anomalies" EXACT [Orphanet:2443]
synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [Orphanet:2443]
xref: Orphanet:2443 {source="MONDO:equivalentTo"}
xref: UMLS:CN201731 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016387 {source="Orphanet:2443"} ! mitochondrial oxidative phosphorylation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201731
property_value: exactMatch Orphanet:2443

[Term]
id: MONDO:0016579
name: dominant hypophosphatemia with nephrolithiasis or osteoporosis
subset: ordo_disease {source="Orphanet:244305"}
xref: Orphanet:244305 {source="MONDO:equivalentTo"}
xref: UMLS:CN228623 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:244305"} ! inherited renal tubular disease
is_a: MONDO:0019705 {source="Orphanet:244305"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0019744 {source="Orphanet:244305"} ! rare renal tubular disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228623
property_value: exactMatch Orphanet:244305

[Term]
id: MONDO:0016580
name: congenital pulmonary airway malformation
def: "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." [MESH:D015615]
subset: ordo_malformation_syndrome {source="Orphanet:2444"}
synonym: "CCAM" EXACT [Orphanet:2444]
synonym: "congenital cystic adenomatoid malformation" RELATED [GARD:0006232]
synonym: "congenital cystic adenomatoid malformation of lung" EXACT [NCIT:C98892]
synonym: "congenital cystic adenomatoid malformation of the lung" EXACT [Orphanet:2444]
synonym: "congenital cystic adenomatous malformation of the lung" EXACT [Orphanet:2444]
synonym: "congenital cystic disease of the lung" EXACT [Orphanet:2444]
synonym: "CPAM" EXACT [Orphanet:2444]
synonym: "cystic adenomatoid malformation of lung" RELATED [GARD:0006232]
xref: GARD:0006232 {source="MONDO:equivalentTo"}
xref: ICD10:Q33.0 {source="Orphanet:2444", source="ORDO:2444/ntbt"}
xref: MESH:D015615 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98892 {source="MONDO:equivalentTo"}
xref: Orphanet:2444 {source="MONDO:equivalentTo"}
xref: SCTID:111318005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015221 {source="Orphanet:2444"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:2444"} ! respiratory malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010668
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158641
property_value: exactMatch http://identifiers.org/mesh/D015615
property_value: exactMatch http://identifiers.org/snomedct/111318005
property_value: exactMatch NCIT:C98892
property_value: exactMatch Orphanet:2444

[Term]
id: MONDO:0016581
name: conotruncal heart malformations
def: "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." [Orphanet:2445]
subset: ordo_group_of_disorders {source="Orphanet:2445"}
synonym: "conotruncal anomaly face syndrome" RELATED [OMIM:217095]
synonym: "conotruncal cardiac defects" RELATED [GARD:0008189]
synonym: "conotruncal heart malformations" EXACT [MONDO:Lexical, OMIM:217095]
synonym: "conotruncal heart malformations; CTHM" RELATED [OMIM:217095]
synonym: "CTHM" RELATED [MONDO:Lexical, OMIM:217095]
synonym: "Double-outlet right ventricle" RELATED [OMIM:217095]
synonym: "interrupted aortic Arch" RELATED [OMIM:217095]
synonym: "persistent truncus arteriosus" RELATED [OMIM:217095]
synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406, MTHICD9_2006:745.11]
synonym: "truncus arteriosus communis" RELATED [OMIM:217095]
xref: GARD:0008189 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD9:747.11 {source="MONDO:equivalentTo", source="i2s"}
xref: OMIM:217095 {source="Orphanet:2445", source="ORDO:2445/e", source="MONDO:equivalentTo"}
xref: Orphanet:2445 {source="MONDO:equivalentTo"}
xref: SCTID:218728005 {source="MONDO:kboom-pr-0.73/0.44/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C1857586 {source="Orphanet:2445", source="NCBI:mim2gene_medline", source="ORDO:2445/e", source="MONDO:equivalentTo", source="OMIM:217095"}
is_a: MONDO:0020285 {source="Orphanet:2445"} ! transposition of the great arteries and conotruncal cardiac anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041207
property_value: exactMatch http://identifiers.org/omim/217095
property_value: exactMatch http://identifiers.org/snomedct/218728005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857586
property_value: exactMatch Orphanet:2445

[Term]
id: MONDO:0016582
name: congenital mitral malformation
subset: gard_rare {source="GARD:0001495"}
subset: ordo_group_of_disorders {source="Orphanet:2447"}
xref: GARD:0001495 {source="MONDO:equivalentTo"}
xref: Orphanet:2447 {source="MONDO:equivalentTo"}
is_a: MONDO:0020288 {source="Orphanet:2447"} ! atrioventricular valve anomaly
property_value: exactMatch Orphanet:2447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation xsd:anyURI {source="GARD:0001495"}

[Term]
id: MONDO:0016583
name: familial intestinal malrotation-facial anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2454"}
synonym: "intestinal malrotation facial anomalies familial type" RELATED [GARD:0005000]
synonym: "Stalker Chitayat syndrome" RELATED [GARD:0005000]
synonym: "Stalker-Chitayat syndrome" EXACT [Orphanet:2454]
xref: GARD:0005000 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q43.3 {source="Orphanet:2454", source="ORDO:2454/attributed", source="ORDO:2454/ntbt"}
xref: Orphanet:2454 {source="MONDO:equivalentTo"}
is_a: MONDO:0008666 ! volvulus of midgut
is_a: MONDO:0015212 {source="Orphanet:2454"} ! syndromic intestinal malformation
property_value: exactMatch Orphanet:2454

[Term]
id: MONDO:0016584
name: mandibuloacral dysplasia
def: "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." [Orphanet:2457]
subset: ordo_malformation_syndrome {source="Orphanet:2457"}
synonym: "MAD" EXACT [Orphanet:2457]
synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056]
xref: DC:0000267 {source="MONDO:equivalentTo"}
xref: GARD:0011893 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.5 {source="ORDO:2457/attributed", source="ORDO:2457/ntbt", source="Orphanet:2457"}
xref: OMIMPS:248370 {source="DC:0000267", source="MONDO:equivalentTo"}
xref: Orphanet:2457 {source="MONDO:equivalentTo"}
xref: UMLS:CN118835 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:2457"} ! progeroid syndrome
is_a: MONDO:0019707 {source="Orphanet:2457"} ! primary osteolysis
is_a: MONDO:0020087 {source="Orphanet:2457", source="Orphanet:2457/inferred"} ! genetic lipodystrophy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2457"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118835
property_value: exactMatch Orphanet:2457

[Term]
id: MONDO:0016585
name: obsolete mansonelliasis
is_obsolete: true
replaced_by: MONDO:0005838

[Term]
id: MONDO:0016586
name: systemic mastocytosis
def: "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." [Orphanet:2467]
subset: ordo_group_of_disorders {source="Orphanet:2467"}
synonym: "Agressive systemic mastocytosis" RELATED [GARD:0008616]
synonym: "Mast cell disease" EXACT [Orphanet:2467]
synonym: "SM" RELATED [ONCOTREE:SM]
synonym: "SMCD - systemic mast cell disease" EXACT [DOID:349]
synonym: "systemic mast cell disease" RELATED [GARD:0008616]
synonym: "systemic mastocytosis" EXACT [MONDO:0002663, NCIT:C9235]
synonym: "systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)" RELATED [GARD:0008616]
synonym: "systemic mastocytosis, NOS" RELATED EXCLUDE [NCIT:C9235]
synonym: "systemic tissue Mast cell disease" EXACT [NCIT:C9235]
synonym: "systemic tissue mast cell disease" EXACT [DOID:349, MTHICD9_2006:202.6]
xref: DOID:349 {source="MONDO:equivalentTo"}
xref: GARD:0008616 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C96.2 {source="Orphanet:2467", source="ORDO:2467/ntbt"}
xref: MedDRA:10042949 {source="Orphanet:2467", source="ORDO:2467/e"}
xref: NCIT:C9235 {source="DOID:349", source="MONDO:equivalentTo"}
xref: ONCOTREE:SM {source="MONDO:equivalentTo"}
xref: Orphanet:2467 {source="MONDO:equivalentTo"}
xref: SCTID:397016004 {source="DOID:349", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.47/0.20"}
xref: UMLS:C0221013 {source="DOID:349", source="NCIT:C9235", source="Orphanet:2467", source="ORDO:2467/e", source="MONDO:equivalentTo"}
is_a: MONDO:0007950 {source="DOID:349", source="NCIT:C9235", source="ONCOTREE:SM", source="Orphanet:2467"} ! mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/123310005
property_value: closeMatch http://identifiers.org/snomedct/50150000
property_value: exactMatch DOID:349
property_value: exactMatch http://identifiers.org/meddra/10042949
property_value: exactMatch http://identifiers.org/mesh/D034721
property_value: exactMatch http://identifiers.org/snomedct/397016004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221013
property_value: exactMatch NCIT:C9235
property_value: exactMatch Orphanet:2467

[Term]
id: MONDO:0016587
name: arrhythmogenic right ventricular cardiomyopathy
def: "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." [Orphanet:247]
subset: clingen
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:247"}
synonym: "arrhythmogenic right ventricular cardiomyopathy" EXACT [GARD:0005847]
synonym: "arrhythmogenic right ventricular dysplasia" EXACT [DOID:0050431, Orphanet:247]
synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [DOID:0050431]
synonym: "arrhythmogenic RVD" EXACT [NCIT:C84571]
synonym: "ARVC" EXACT [DOID:0050431, Orphanet:247]
synonym: "ARVC cardiomyopathy" EXACT [DOID:0050431]
synonym: "ARVD" EXACT [DOID:0050431, GARD:0005847, Orphanet:247]
synonym: "right ventricular dysplasia" EXACT [NCIT:C84571]
xref: DOID:0050431 {source="MONDO:equivalentTo"}
xref: GARD:0005847 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="Orphanet:247", source="ORDO:247/index", source="ORDO:247/ntbt"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058093 {source="Orphanet:247", source="ORDO:247/e"}
xref: MESH:D019571 {source="Orphanet:247", source="DOID:0050431", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:247/e"}
xref: NCIT:C84571 {source="DOID:0050431", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:107970 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: Orphanet:247 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: SCTID:281170005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:0050431", source="MONDO:equivalentTo"}
xref: UMLS:C0349788 {source="Orphanet:247", source="DOID:0050431", source="GARD:0005847", source="MONDO:equivalentTo", source="NCIT:C84571", source="ORDO:247/e"}
xref: UMLS:CN221565 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN239850 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0000591 {source="DOID:0050431", source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/253528005
property_value: exactMatch DOID:0050431
property_value: exactMatch http://identifiers.org/meddra/10058093
property_value: exactMatch http://identifiers.org/mesh/D019571
property_value: exactMatch http://identifiers.org/snomedct/281170005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239850
property_value: exactMatch NCIT:C84571
property_value: exactMatch Orphanet:247

[Term]
id: MONDO:0016588
name: infantile mercury poisoning
def: "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." [Orphanet:247165]
subset: ordo_disease {source="Orphanet:247165"}
synonym: "erythroedema polyneuritis" EXACT [Orphanet:247165]
synonym: "Feer disease" EXACT [Orphanet:247165]
synonym: "infantile acrodynia" EXACT [Orphanet:247165]
synonym: "infantile mercury intoxication" EXACT [Orphanet:247165]
synonym: "pink disease" EXACT [Orphanet:247165]
synonym: "Swift disease" EXACT [Orphanet:247165]
synonym: "Swift-Feer disease" EXACT [Orphanet:247165]
xref: ICD10:T56.1 {source="Orphanet:247165", source="ORDO:247165/ntbt"}
xref: MESH:D000170 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:247165 {source="MONDO:equivalentTo"}
xref: SCTID:66695004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.72"}
xref: UMLS:CN201782 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018020 ! mercury poisoning
property_value: exactMatch http://identifiers.org/mesh/D000170
property_value: exactMatch http://identifiers.org/snomedct/66695004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201782
property_value: exactMatch Orphanet:247165

[Term]
id: MONDO:0016589
name: progressive cerebello-cerebral atrophy
subset: ordo_disease {source="Orphanet:247198"}
synonym: "PCCA" EXACT [Orphanet:247198]
xref: Orphanet:247198 {source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:247198"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:247198", source="Orphanet:247198/inferred"} ! genetic nervous system disorder
property_value: exactMatch Orphanet:247198

[Term]
id: MONDO:0016590
name: obsolete collecting duct carcinoma
is_obsolete: true
replaced_by: MONDO:0005220

[Term]
id: MONDO:0016591
name: sporadic adult-onset ataxia of unknown etiology
def: "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." [Orphanet:247234]
subset: ordo_disease {source="Orphanet:247234"}
synonym: "idiopathic late-onset cerebellar ataxia" EXACT [Orphanet:247234]
synonym: "SAOA" EXACT [Orphanet:247234]
xref: Orphanet:247234 {source="MONDO:equivalentTo"}
xref: SCTID:734023003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016592 {source="Orphanet:247234"} ! non-hereditary degenerative ataxia
property_value: exactMatch http://identifiers.org/snomedct/734023003
property_value: exactMatch Orphanet:247234

[Term]
id: MONDO:0016592
name: non-hereditary degenerative ataxia
subset: ordo_group_of_disorders {source="Orphanet:247239"}
xref: Orphanet:247239 {source="MONDO:equivalentTo"}
is_a: MONDO:0000437 {source="Orphanet:247239"} ! cerebellar ataxia
property_value: exactMatch Orphanet:247239

[Term]
id: MONDO:0016593
name: acquired ataxia
def: "An instance of cerebellar ataxia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:247242"}
synonym: "acquired cerebellar ataxia" EXACT [MONDO:patterns/acquired]
xref: Orphanet:247242 {source="MONDO:equivalentTo"}
xref: SCTID:722968003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000437 {source="MONDO:Redundant", source="Orphanet:247242"} ! cerebellar ataxia
intersection_of: MONDO:0000437 ! cerebellar ataxia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/722968003
property_value: exactMatch Orphanet:247242

[Term]
id: MONDO:0016594
name: superficial siderosis
def: "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." [Orphanet:247245]
subset: ordo_disease {source="Orphanet:247245"}
synonym: "hemosiderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial hemosiderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial hemosiderosis of the CNS" EXACT [Orphanet:247245]
synonym: "superficial siderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial siderosis of the CNS" EXACT [Orphanet:247245]
xref: GARD:0009484 {source="MONDO:equivalentTo"}
xref: ICD10:I69.0 {source="Orphanet:247245", source="ORDO:247245/ntbt"}
xref: Orphanet:247245 {source="MONDO:equivalentTo"}
is_a: MONDO:0016593 {source="Orphanet:247245"} ! acquired ataxia
property_value: exactMatch Orphanet:247245

[Term]
id: MONDO:0016595
name: inhalational anthrax
def: "spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." [Orphanet:247257]
subset: ordo_disease {source="Orphanet:247257"}
synonym: "inhalation anthrax" RELATED [DOID:0050160]
synonym: "inhalation anthrax disease" EXACT [Orphanet:247257]
synonym: "pulmonary anthrax" EXACT [DOID:0050160, Orphanet:247257]
synonym: "respiratory anthrax" EXACT [DOID:0050160, MTHICD9_2006:022.1, Orphanet:247257]
synonym: "respiratory anthrax disease" EXACT [Orphanet:247257]
synonym: "wool-sorters' disease" EXACT [DOID:0050160]
synonym: "woolsorters' disease" EXACT [DOID:0050160]
xref: DOID:0050160 {source="MONDO:equivalentTo"}
xref: ICD10:A22.1 {source="Orphanet:247257", source="ORDO:247257/ntbt"}
xref: ICD9:022.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10035667 {source="Orphanet:247257", source="ORDO:247257/e"}
xref: MESH:C571912 {source="MONDO:equivalentTo"}
xref: Orphanet:247257 {source="MONDO:equivalentTo"}
xref: SCTID:11389007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0155866 {source="Orphanet:247257", source="ORDO:247257/e", source="MONDO:equivalentTo"}
is_a: MONDO:0005119 {source="DOID:0050160", source="MESH:C571912", source="linkedlifedata"} ! anthrax infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:0050160
property_value: exactMatch http://identifiers.org/meddra/10035667
property_value: exactMatch http://identifiers.org/mesh/C571912
property_value: exactMatch http://identifiers.org/snomedct/11389007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155866
property_value: exactMatch Orphanet:247257

[Term]
id: MONDO:0016596
name: hyperphosphatasia-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:247262"}
synonym: "HPMR" EXACT [Orphanet:247262]
synonym: "hyperphosphatasia with mental retardation syndrome" EXACT [OMIMPS:239300]
synonym: "Mabry syndrome" EXACT [Orphanet:247262]
xref: OMIMPS:239300 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="MONDO:equivalentTo"}
xref: SCTID:33982008 {source="MONDO:kboom-pr-0.90/0.67/1.33", source="MONDO:equivalentTo"}
xref: UMLS:C1855923 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:247262"}
is_a: MONDO:0000508 {source="Orphanet:247262"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:247262"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018292 {source="MONDO:Redundant", source="Orphanet:247262"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019066 {source="Orphanet:247262", source="Orphanet:247262/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/33982008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855923
property_value: exactMatch Orphanet:247262

[Term]
id: MONDO:0016597
name: generalized pustular psoriasis
def: "Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." [Orphanet:247353]
subset: ordo_disease {source="Orphanet:247353"}
synonym: "GPP" EXACT [Orphanet:247353]
xref: GARD:0012819 {source="MONDO:equivalentTo"}
xref: ICD10:L40.1 {source="ORDO:247353/specific", source="ORDO:247353/e", source="Orphanet:247353"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:247353 {source="MONDO:equivalentTo"}
xref: SCTID:238612002 {source="MONDO:kboom-pr-0.89/0.75/0.24", source="MONDO:equivalentTo"}
is_a: MONDO:0013626 {source="MONDOLEX:0016597"} ! psoriasis 14, pustular
is_a: MONDO:0019274 {source="Orphanet:247353"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:247353"} ! other genetic epidermal disease
property_value: exactMatch http://identifiers.org/snomedct/238612002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343055
property_value: exactMatch Orphanet:247353

[Term]
id: MONDO:0016598
name: autosomal recessive secondary polycythemia not associated with VHL gene
subset: ordo_disease {source="Orphanet:247378"}
synonym: "autosomal recessive secondary erythrocytosis not associated with VHL gene" EXACT [Orphanet:247378]
synonym: "autosomal recessive secondary erythrocytosis, non-Chuvash type" EXACT [Orphanet:247378]
synonym: "autosomal recessive secondary polycythemia, non-Chuvash type" EXACT [Orphanet:247378]
xref: ICD10:D75.1 {source="Orphanet:247378", source="ORDO:247378/attributed", source="ORDO:247378/ntbt"}
xref: Orphanet:247378 {source="MONDO:equivalentTo"}
xref: UMLS:CN226972 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016540 {source="Orphanet:247378"} ! congenital secondary polycythemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226972
property_value: exactMatch Orphanet:247378

[Term]
id: MONDO:0016599
name: autosomal dominant secondary polycythemia
def: "Autosomal dominant form of secondary polycythemia." [MONDO:patterns/autosomal_dominant]
subset: ordo_disease {source="Orphanet:247511"}
synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511]
synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:D75.1 {source="Orphanet:247511", source="ORDO:247511/attributed", source="ORDO:247511/ntbt"}
xref: Orphanet:247511 {source="MONDO:equivalentTo"}
xref: UMLS:CN201790 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0001115 ! familial polycythemia
is_a: MONDO:0016540 {source="Orphanet:247511"} ! congenital secondary polycythemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201790
property_value: exactMatch Orphanet:247511

[Term]
id: MONDO:0016600
name: acute neonatal citrullinemia type I
def: "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 (see this term) characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." [Orphanet:247546]
subset: ordo_clinical_subtype {source="Orphanet:247546"}
synonym: "acute neonatal citrullinemia type 1" EXACT [Orphanet:247546]
synonym: "classic citrullinemia type 1" EXACT [Orphanet:247546]
synonym: "classic citrullinemia type I" EXACT [Orphanet:247546]
xref: ICD10:E72.2 {source="Orphanet:247546", source="ORDO:247546/attributed", source="ORDO:247546/ntbt"}
xref: Orphanet:247546 {source="MONDO:equivalentTo"}
xref: UMLS:CN201793 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008988 {source="MONDOLEX:0016600", source="Orphanet:247546"} ! citrullinemia type I
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201793
property_value: exactMatch Orphanet:247546

[Term]
id: MONDO:0016601
name: adult-onset citrullinemia type I
def: "adult-onset citrullinemia type I is a form of citrullinemia type I (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." [Orphanet:247573]
subset: ordo_clinical_subtype {source="Orphanet:247573"}
synonym: "adult-onset citrullinemia type 1" EXACT [Orphanet:247573]
synonym: "late-onset citrullinemia type 1" EXACT [Orphanet:247573]
synonym: "late-onset citrullinemia type I" EXACT [Orphanet:247573]
xref: ICD10:E72.2 {source="ORDO:247573/attributed", source="ORDO:247573/ntbt", source="Orphanet:247573"}
xref: Orphanet:247573 {source="MONDO:equivalentTo"}
xref: UMLS:CN201794 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008988 {source="MONDOLEX:0016601", source="Orphanet:247573"} ! citrullinemia type I
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201794
property_value: exactMatch Orphanet:247573

[Term]
id: MONDO:0016602
name: citrin deficiency
def: "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." [Orphanet:247582]
subset: ordo_group_of_disorders {source="Orphanet:247582"}
xref: ICD10:E72.2 {source="ORDO:247582/attributed", source="ORDO:247582/ntbt", source="Orphanet:247582"}
xref: Orphanet:247582 {source="MONDO:equivalentTo"}
xref: SCTID:429735007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.42"}
xref: UMLS:C1997910 {source="MONDO:equivalentTo", source="ORDO:247582/e", source="Orphanet:247582"}
is_a: MONDO:0015991 {source="Orphanet:247582"} ! citrullinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863844
property_value: exactMatch http://identifiers.org/snomedct/429735007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997910
property_value: exactMatch Orphanet:247582

[Term]
id: MONDO:0016603
name: citrullinemia type II
def: "Citrullinemia type II is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." [Orphanet:247585]
subset: ordo_disease {source="Orphanet:247585"}
synonym: "adult-onset citrin deficiency" EXACT [Orphanet:247585]
synonym: "adult-onset type 2 citrullinemia" EXACT [Orphanet:247585]
synonym: "adult-onset type II citrullinemia" EXACT [Orphanet:247585]
synonym: "citrullinemia type 2" EXACT [Orphanet:247585]
synonym: "citrullinemia type II" EXACT [NCIT:C150603]
synonym: "CTLN2" EXACT [NCIT:C150603, Orphanet:247585]
xref: ICD10:E72.2 {source="ORDO:247585/attributed", source="ORDO:247585/ntbt", source="Orphanet:247585"}
xref: NCIT:C150603 {source="MONDO:equivalentTo"}
xref: Orphanet:247585 {source="MONDO:equivalentTo"}
xref: SCTID:716863007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.42"}
is_a: MONDO:0016602 {source="Orphanet:247585", source="linkedlifedata"} ! citrin deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863844
property_value: exactMatch http://identifiers.org/snomedct/716863007
property_value: exactMatch NCIT:C150603
property_value: exactMatch Orphanet:247585

[Term]
id: MONDO:0016604
name: dysraphism-cleft lip/palate-limb reduction defects syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2476"}
synonym: "dysraphism, cleft lip/palate, limb reduction defects" RELATED [GARD:0003438]
synonym: "Medeira-Dennis-Donnai syndrome" EXACT [Orphanet:2476]
xref: GARD:0003438 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q00.0 {source="Orphanet:2476", source="ORDO:2476/attributed", source="ORDO:2476/btnt"}
xref: Orphanet:2476 {source="MONDO:equivalentTo"}
xref: UMLS:CN201798 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015335 {source="Orphanet:2476"} ! orofacial clefting syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201798
property_value: exactMatch Orphanet:2476

[Term]
id: MONDO:0016605
name: perinatal lethal hypophosphatasia
def: "due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." [Orphanet:247623]
subset: ordo_clinical_subtype {source="Orphanet:247623"}
synonym: "perinatal lethal phosphoethanolaminuria" EXACT [Orphanet:247623]
synonym: "perinatal lethal Rathburn disease" EXACT [Orphanet:247623]
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="Orphanet:247623", source="ORDO:247623/attributed", source="ORDO:247623/ntbt"}
xref: Orphanet:247623 {source="MONDO:equivalentTo"}
xref: UMLS:C2673477 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:247623", source="MONDO:equivalentTo"}
is_a: MONDO:0009427 {source="MONDOLEX:0016605"} ! infantile hypophosphatasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673477
property_value: exactMatch Orphanet:247623

[Term]
id: MONDO:0016606
name: prenatal benign hypophosphatasia
def: "Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia (see this term) characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." [Orphanet:247638]
subset: ordo_clinical_subtype {source="Orphanet:247638"}
synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638]
synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638]
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:247638/attributed", source="ORDO:247638/ntbt", source="Orphanet:247638"}
xref: Orphanet:247638 {source="MONDO:equivalentTo"}
xref: UMLS:CN201801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018570 {source="Orphanet:247638"} ! hypophosphatasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201801
property_value: exactMatch Orphanet:247638

[Term]
id: MONDO:0016607
name: odontohypophosphatasia
def: "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia (see this term) characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." [Orphanet:247685]
subset: ordo_clinical_subtype {source="Orphanet:247685"}
xref: ICD10:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="ORDO:247685/attributed", source="ORDO:247685/ntbt"}
xref: NCIT:C131309 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.71/2.02"}
xref: Orphanet:247685 {source="MONDO:equivalentTo"}
xref: SCTID:708672004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.25"}
xref: UMLS:C1840322 {source="Orphanet:247685", source="MEDGEN:kboom-pr98-c99", source="NCIT:C131309", source="MONDO:equivalentTo"}
is_a: MONDO:0007798 {source="MONDOLEX:0016607"} ! adult hypophosphatasia
property_value: exactMatch http://identifiers.org/snomedct/708672004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840322
property_value: exactMatch NCIT:C131309
property_value: exactMatch Orphanet:247685

[Term]
id: MONDO:0016608
name: megalencephaly (disease)
def: "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." [MESH:D058627]
subset: ordo_malformation_syndrome {source="Orphanet:2477"}
synonym: "macroencephaly" EXACT [Orphanet:2477]
synonym: "megalencephaly" EXACT [MONDO:ambiguous]
xref: HP:0001355 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q04.5 {source="ORDO:2477/e", source="Orphanet:2477"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050183 {source="ORDO:2477/e", source="Orphanet:2477"}
xref: MESH:D058627 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2477 {source="MONDO:equivalentTo"}
xref: SCTID:9740002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0016054 {source="Orphanet:2477"} ! cerebral malformation
property_value: exactMatch http://identifiers.org/meddra/10050183
property_value: exactMatch http://identifiers.org/mesh/D058627
property_value: exactMatch http://identifiers.org/snomedct/9740002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2720434
property_value: exactMatch Orphanet:2477

[Term]
id: MONDO:0016609
name: inflammatory myopathy with abundant macrophages
def: "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." [Orphanet:247718]
subset: ordo_disease {source="Orphanet:247718"}
synonym: "imam" EXACT [Orphanet:247718]
xref: ICD10:G72.4 {source="ORDO:247718/ntbt", source="Orphanet:247718"}
xref: Orphanet:247718 {source="MONDO:equivalentTo"}
xref: SCTID:766706007 {source="MONDO:equivalentTo"}
xref: UMLS:CN201809 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020122 {source="Orphanet:247718"} ! idiopathic inflammatory myopathy
property_value: exactMatch http://identifiers.org/snomedct/766706007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201809
property_value: exactMatch Orphanet:247718

[Term]
id: MONDO:0016610
name: idiopathic eosinophilic myositis
subset: ordo_disease {source="Orphanet:247724"}
synonym: "idiopathic eosinophilia-associated myopathy" EXACT [Orphanet:247724]
xref: ICD10:M60.8 {source="ORDO:247724/ntbt", source="Orphanet:247724"}
xref: Orphanet:247724 {source="MONDO:equivalentTo"}
is_a: MONDO:0020122 {source="Orphanet:247724"} ! idiopathic inflammatory myopathy
property_value: exactMatch Orphanet:247724

[Term]
id: MONDO:0016611
name: lipoblastoma
def: "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." [NCIT:P378]
subset: gard_rare {source="GARD:0012015"}
subset: ordo_disease {source="Orphanet:247762"}
synonym: "embryonic lipoma" EXACT [NCIT:C27483]
synonym: "fetal lipoma" EXACT [NCIT:C27483]
synonym: "infantile lipoma" EXACT [NCIT:C27483]
xref: GARD:0012015 {source="MONDO:equivalentTo"}
xref: MESH:D062689 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C27483 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:247762 {source="MONDO:equivalentTo"}
xref: SCTID:400102008 {source="GARD:0012015", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1260965 {source="NCIT:C27483", source="Orphanet:247762", source="MONDO:equivalentTo", source="ORDO:247762/e"}
is_a: MONDO:0044335 ! benign soft tissue neoplasm
is_a: MONDO:0044983 {source="NCIT:C27483"} ! benign lipomatous neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D062689
property_value: exactMatch http://identifiers.org/snomedct/400102008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260965
property_value: exactMatch NCIT:C27483
property_value: exactMatch Orphanet:247762
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma xsd:anyURI {source="GARD:0012015"}

[Term]
id: MONDO:0016612
name: X-linked cerebellar ataxia
alt_id: MONDO:0000559
def: "X-linked form of cerebellar ataxia." [MONDO:patterns/x_linked]
subset: ordo_group_of_disorders {source="Orphanet:247765"}
synonym: "cerebellar ataxia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hereditary ataxia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked hereditary ataxia" EXACT [MONDO:patterns/x_linked]
xref: DOID:0050953 {source="MONDO:equivalentTo"}
xref: ICD10:G11.1 {source="Orphanet:247765", source="ORDO:247765/inclusion", source="ORDO:247765/ntbt"}
xref: Orphanet:247765 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0000557 ! hereditary ataxia
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch DOID:0050953
property_value: exactMatch Orphanet:247765

[Term]
id: MONDO:0016613
name: APC-related attenuated familial adenomatous polyposis
comment: Editor note: TODO add gene
subset: ordo_clinical_subtype {source="Orphanet:247806"}
synonym: "APC-related AFAP" EXACT [Orphanet:247806]
synonym: "APC-related attenuated familial polyposis coli" EXACT [Orphanet:247806]
synonym: "APC-related attenuated FAP" EXACT [Orphanet:247806]
xref: ICD10:D12.6 {source="ORDO:247806/attributed", source="ORDO:247806/ntbt", source="Orphanet:247806"}
xref: Orphanet:247806 {source="MONDO:equivalentTo"}
xref: UMLS:CN201818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="Orphanet:247806"} ! attenuated familial adenomatous polyposis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201818
property_value: exactMatch Orphanet:247806

[Term]
id: MONDO:0016614
name: autosomal recessive ataxia due to PEX10 deficiency
comment: Editor note: TODO add gene
subset: ordo_disease {source="Orphanet:247815"}
synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [Orphanet:247815]
xref: ICD10:G11.8 {source="ORDO:247815/attributed", source="ORDO:247815/ntbt", source="Orphanet:247815"}
xref: Orphanet:247815 {source="MONDO:equivalentTo"}
xref: UMLS:CN201819 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020044 {source="Orphanet:247815"} ! autosomal recessive metabolic cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201819
property_value: exactMatch Orphanet:247815

[Term]
id: MONDO:0016615
name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
subset: ordo_etiological_subtype {source="Orphanet:247839"}
synonym: "oligoarticular JIA with anti-nuclear antibodies" EXACT [Orphanet:247839]
synonym: "pauciarticular chronic arthritis with anti-nuclear antibodies" EXACT [Orphanet:247839]
xref: ICD10:M08.4 {source="ORDO:247839/ntbt", source="MONDO:relatedTo", source="Orphanet:247839"}
xref: Orphanet:247839 {source="MONDO:equivalentTo"}
xref: UMLS:CN201823 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019433 {source="MONDOLEX:0016615", source="Orphanet:247839"} ! oligoarticular juvenile idiopathic arthritis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201823
property_value: exactMatch Orphanet:247839

[Term]
id: MONDO:0016616
name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
subset: ordo_etiological_subtype {source="Orphanet:247846"}
synonym: "oligoarticular JIA without anti-nuclear antibodies" EXACT [Orphanet:247846]
synonym: "pauciarticular chronic arthritis without anti-nuclear antibodies" EXACT [Orphanet:247846]
xref: ICD10:M08.4 {source="MONDO:relatedTo", source="ORDO:247846/ntbt", source="Orphanet:247846"}
xref: Orphanet:247846 {source="MONDO:equivalentTo"}
xref: UMLS:CN201824 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019433 {source="MONDOLEX:0016616", source="Orphanet:247846"} ! oligoarticular juvenile idiopathic arthritis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201824
property_value: exactMatch Orphanet:247846

[Term]
id: MONDO:0016617
name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
subset: ordo_etiological_subtype {source="Orphanet:247854"}
synonym: "juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies" EXACT [Orphanet:247854]
synonym: "polyarthritis without rheumatoid factor with anti-nuclear antibodies" EXACT [Orphanet:247854]
synonym: "rheumatoid factor-negative JIA with anti-nuclear antibodies" EXACT [Orphanet:247854]
xref: ICD10:M08.3 {source="Orphanet:247854", source="ORDO:247854/ntbt"}
xref: Orphanet:247854 {source="MONDO:equivalentTo"}
is_a: MONDO:0019432 {source="Orphanet:247854"} ! rheumatoid factor-negative juvenile idiopathic arthritis
disjoint_from: MONDO:0016618 ! rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
property_value: exactMatch Orphanet:247854

[Term]
id: MONDO:0016618
name: rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
subset: ordo_etiological_subtype {source="Orphanet:247861"}
synonym: "juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies" EXACT [Orphanet:247861]
synonym: "polyarthritis without rheumatoid factor without anti-nuclear antibodies" EXACT [Orphanet:247861]
synonym: "rheumatoid factor-negative JIA without anti-nuclear antibodies" EXACT [Orphanet:247861]
xref: ICD10:M08.3 {source="Orphanet:247861", source="ORDO:247861/ntbt"}
xref: Orphanet:247861 {source="MONDO:equivalentTo"}
is_a: MONDO:0019432 {source="Orphanet:247861"} ! rheumatoid factor-negative juvenile idiopathic arthritis
property_value: exactMatch Orphanet:247861

[Term]
id: MONDO:0016619
name: autosomal recessive hypohidrotic ectodermal dysplasia
def: "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." [NCIT:C84580]
subset: gard_rare {source="GARD:0002057"}
subset: ordo_etiological_subtype {source="Orphanet:248"}
synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" RELATED [GARD:0002057]
synonym: "AR-HED" EXACT [Orphanet:248]
synonym: "autosomal recessive anhidrotic ectodermal dysplasia" EXACT [Orphanet:248]
synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0002057]
synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:0002057 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.4 {source="Orphanet:248", source="ORDO:248/attributed", source="ORDO:248/ntbt"}
xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:248/e"}
xref: NCIT:C84580 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:248 {source="MONDO:equivalentTo"}
xref: SCTID:27025001 {source="MONDO:kboom-pr-0.71/0.37/0.22", source="MONDO:equivalentTo"}
xref: UMLS:C0406702 {source="Orphanet:248", source="MONDO:equivalentTo", source="NCIT:C84580", source="ORDO:248/e"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016535 {source="MONDO:Redundant", source="MONDOLEX:0016619", source="Orphanet:248"} ! hypohidrotic ectodermal dysplasia
property_value: exactMatch http://identifiers.org/mesh/D053360
property_value: exactMatch http://identifiers.org/snomedct/27025001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406702
property_value: exactMatch NCIT:C84580
property_value: exactMatch Orphanet:248
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive xsd:anyURI {source="GARD:0002057"}

[Term]
id: MONDO:0016620
name: primary hypertrophic osteoarthropathy
def: "Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)." [Orphanet:248095]
subset: ordo_group_of_disorders {source="Orphanet:248095"}
synonym: "hypertrophic osteoarthropathy, primary" EXACT [MONDO:0000183]
synonym: "hypertropic osteoarthropathy, primary" EXACT [OMIMPS:259100]
synonym: "idiopathic hypertrophic osteoarthropathy" EXACT [Orphanet:248095]
synonym: "pachydermoperiostosis of nail" EXACT [DOID:14283]
synonym: "pachydermoperiostosis of nail [ambiguous]" EXACT [DOID:14283]
synonym: "pachydermoperiostosis syndrome" EXACT [DOID:14283]
synonym: "PHO" EXACT [Orphanet:248095]
xref: DC:0000680 {source="MONDO:equivalentTo"}
xref: DOID:14283 {source="MONDO:equivalentTo"}
xref: ICD10:M89.4 {source="DOID:14283", source="ORDO:248095/attributed", source="ORDO:248095/ntbt", source="Orphanet:248095"}
xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="ORDO:248095/e", source="Orphanet:248095"}
xref: NCIT:C85023 {source="DOID:14283", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:259100 {source="DC:0000680", source="MONDO:equivalentTo"}
xref: Orphanet:248095 {source="MONDO:equivalentTo"}
xref: UMLS:C0029411 {source="DOID:14283", source="MONDO:equivalentTo", source="ORDO:248095/e", source="Orphanet:248095", source="NCIT:C85023"}
is_a: MONDO:0002254 {source="DOID:14283", source="MONDOLEX:0016620"} ! syndromic disease
is_a: MONDO:0019703 {source="Orphanet:248095"} ! primary bone dysplasia with increased bone density
property_value: closeMatch http://identifiers.org/snomedct/201124000
property_value: closeMatch http://identifiers.org/snomedct/223726008
property_value: closeMatch http://identifiers.org/snomedct/239052008
property_value: exactMatch DOID:14283
property_value: exactMatch http://identifiers.org/mesh/D010004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029411
property_value: exactMatch NCIT:C85023
property_value: exactMatch Orphanet:248095

[Term]
id: MONDO:0016621
name: juvenile Huntington disease
def: "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." [Orphanet:248111]
subset: gard_rare {source="GARD:0010510"}
subset: ordo_disease {source="Orphanet:248111"}
synonym: "Huntington disease, juvenile onset" RELATED [GARD:0010510]
synonym: "JHD" EXACT [Orphanet:248111]
synonym: "juvenile Huntington chorea" EXACT [Orphanet:248111]
synonym: "juvenile onset HD" RELATED [GARD:0010510]
xref: GARD:0010510 {source="MONDO:equivalentTo"}
xref: ICD10:G10 {source="Orphanet:248111", source="ORDO:248111/attributed", source="ORDO:248111/ntbt"}
xref: NCIT:C147072 {source="MONDO:equivalentTo"}
xref: Orphanet:248111 {source="MONDO:equivalentTo"}
xref: SCTID:230299004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0751208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:248111", source="ORDO:248111/e"}
is_a: MONDO:0007739 {source="NCIT:C147072", source="linkedlifedata"} ! Huntington disease
property_value: exactMatch http://identifiers.org/snomedct/230299004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751208
property_value: exactMatch NCIT:C147072
property_value: exactMatch Orphanet:248111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease xsd:anyURI {source="GARD:0010510"}

[Term]
id: MONDO:0016622
name: Melhem-Fahl syndrome
def: "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." [Orphanet:2482]
subset: gard_rare {source="GARD:0003462"}
subset: n_of_one
subset: ordo_malformation_syndrome {source="Orphanet:2482"}
synonym: "fifteen dorsal vertebrae and rib pairs" RELATED [GARD:0003462]
synonym: "Melhem Fahl syndrome" RELATED [GARD:0003462]
xref: GARD:0003462 {source="MONDO:equivalentTo"}
xref: ICD10:Q76.4 {source="ORDO:2482/attributed", source="ORDO:2482/ntbt", source="Orphanet:2482"}
xref: MESH:C537238 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:2482/e", source="Orphanet:2482"}
xref: Orphanet:2482 {source="MONDO:equivalentTo"}
xref: SCTID:732263008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931453 {source="MONDO:equivalentTo", source="ORDO:2482/e", source="Orphanet:2482"}
is_a: MONDO:0019711 {source="Orphanet:2482"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/mesh/C537238
property_value: exactMatch http://identifiers.org/snomedct/732263008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931453
property_value: exactMatch Orphanet:2482
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome xsd:anyURI {source="GARD:0003462"}

[Term]
id: MONDO:0016623
name: obsolete rare deficiency anemia
def: "Any of the forms of deficiency anemia that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248293"}
synonym: "rare deficiency anemia" EXACT [MONDO:patterns/rare]
xref: Orphanet:248293 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:248293
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001639
consider: UMLS:C0041782 {source="MONDO:subClassOf", source="Orphanet:248293"}

[Term]
id: MONDO:0016624
name: inherited deficiency anemia
subset: ordo_group_of_disorders {source="Orphanet:248296"}
synonym: "constitutional rare deficiency anemia" EXACT [Orphanet:248296]
xref: Orphanet:248296 {source="MONDO:equivalentTo"}
is_a: MONDO:0001639 {source="MONDO:Redundant", source="Orphanet:248296"} ! deficiency anemia
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0001639 ! deficiency anemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:248296

[Term]
id: MONDO:0016625
name: acquired deficiency anemia
def: "An instance of deficiency anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:248302"}
synonym: "rare acquired deficiency anemia" EXACT [Orphanet:248302]
xref: Orphanet:248302 {source="MONDO:equivalentTo"}
xref: UMLS:CN226976 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001639 {source="Orphanet:248302"} ! deficiency anemia
intersection_of: MONDO:0001639 ! deficiency anemia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226976
property_value: exactMatch Orphanet:248302
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016626
name: hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
comment: Editor note: TODO find relevant GO class
subset: ordo_disease {source="Orphanet:248305"}
xref: ICD10:D55.2 {source="Orphanet:248305", source="ORDO:248305/attributed", source="ORDO:248305/ntbt"}
xref: Orphanet:248305 {source="MONDO:equivalentTo"}
is_a: MONDO:0020106 {source="Orphanet:248305"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: exactMatch Orphanet:248305

[Term]
id: MONDO:0016627
name: obsolete rare hemorrhagic disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248308"}
synonym: "rare bleeding disorder" EXACT [Orphanet:248308]
synonym: "rare coagulopathy" EXACT [Orphanet:248308]
xref: Orphanet:248308 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN226978 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226978
property_value: exactMatch Orphanet:248308
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002243
consider: UMLS:C0005779 {source="Orphanet:248308"}
consider: UMLS:C0019087 {source="Orphanet:248308"}

[Term]
id: MONDO:0016628
name: hemorrhagic disorder due to a coagulation factors defect
subset: ordo_group_of_disorders {source="Orphanet:248315"}
synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [Orphanet:248315]
synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [Orphanet:248315]
xref: Orphanet:248315 {source="MONDO:equivalentTo"}
xref: UMLS:CN226979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002243 {source="Orphanet:248315"} ! hemorrhagic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226979
property_value: exactMatch Orphanet:248315
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016629
name: hemorrhagic disorder due to a platelet anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248326"}
synonym: "rare bleeding disorder due to a platelet anomaly" EXACT [Orphanet:248326]
synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
synonym: "rare coagulopathy due to a platelet anomaly" EXACT [Orphanet:248326]
synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
xref: Orphanet:248326 {source="MONDO:equivalentTo"}
xref: UMLS:CN236380 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002243 {source="Orphanet:248326"} ! hemorrhagic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236380
property_value: exactMatch Orphanet:248326
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016630
name: isolated delta-storage pool disease
def: "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." [Orphanet:248340]
subset: ordo_disease {source="Orphanet:248340"}
synonym: "isolated delta-SPD" EXACT [Orphanet:248340]
synonym: "isolated dense-SPD" EXACT [Orphanet:248340]
synonym: "isolated dense-storage pool disease" EXACT [Orphanet:248340]
xref: ICD10:D69.1 {source="ORDO:248340/attributed", source="ORDO:248340/ntbt", source="Orphanet:248340"}
xref: Orphanet:248340 {source="MONDO:equivalentTo"}
xref: UMLS:CN201837 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018796 {source="Orphanet:248340"} ! isolated constitutional thrombocytopenia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201837
property_value: exactMatch Orphanet:248340

[Term]
id: MONDO:0016631
name: hemorrhagic disorder due to an acquired platelet anomaly
def: "A hemorrhagic disorder due to a platelet anomaly which develops after birth." [https://orcid.org/0000-0001-5208-3432]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248347"}
synonym: "rare bleeding disorder due to an acquired platelet anomaly" EXACT [Orphanet:248347]
synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [Orphanet:248347]
synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
xref: Orphanet:248347 {source="MONDO:equivalentTo"}
xref: UMLS:CN226981 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016629 {source="Orphanet:248347"} ! hemorrhagic disorder due to a platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226981
property_value: exactMatch Orphanet:248347
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016632
name: thrombotic disorder due to a coagulation factors defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248358"}
xref: Orphanet:248358 {source="MONDO:equivalentTo"}
xref: UMLS:CN226982 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015913 {source="Orphanet:248358"} ! rare thrombotic disease of hematologic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226982
property_value: exactMatch Orphanet:248358
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016633
name: thrombotic disorder due to a constitutional coagulation factors defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248361"}
xref: Orphanet:248361 {source="MONDO:equivalentTo"}
xref: UMLS:CN226983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016632 {source="Orphanet:248361"} ! thrombotic disorder due to a coagulation factors defect
is_a: MONDO:0021181 {source="MONDO:Entailed", source="Orphanet:248361"} ! inherited blood coagulation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226983
property_value: exactMatch Orphanet:248361
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016634
name: thrombotic disorder due to an acquired coagulation factors defect
def: "An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248365"}
synonym: "acquired rare thrombotic disorder due to a coagulation factors defect" EXACT [MONDO:patterns/acquired]
xref: Orphanet:248365 {source="MONDO:equivalentTo"}
xref: UMLS:CN226984 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016632 {source="MONDO:Redundant", source="Orphanet:248365"} ! thrombotic disorder due to a coagulation factors defect
intersection_of: MONDO:0016632 ! thrombotic disorder due to a coagulation factors defect
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226984
property_value: exactMatch Orphanet:248365
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016635
name: thrombotic disorder due to a platelet anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248368"}
xref: Orphanet:248368 {source="MONDO:equivalentTo"}
xref: UMLS:CN226985 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015913 {source="Orphanet:248368"} ! rare thrombotic disease of hematologic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226985
property_value: exactMatch Orphanet:248368
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016636
name: thrombotic disorder due to a constitutional platelet anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248401"}
xref: Orphanet:248401 {source="MONDO:equivalentTo"}
xref: UMLS:CN226986 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016635 {source="Orphanet:248401"} ! thrombotic disorder due to a platelet anomaly
is_a: MONDO:0021181 {source="MONDO:Entailed", source="Orphanet:248401"} ! inherited blood coagulation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226986
property_value: exactMatch Orphanet:248401
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016637
name: thrombotic disorder due to an acquired platelet anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:248404"}
xref: Orphanet:248404 {source="MONDO:equivalentTo"}
xref: UMLS:CN226987 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016635 {source="Orphanet:248404"} ! thrombotic disorder due to a platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226987
property_value: exactMatch Orphanet:248404
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016638
name: familial hypodysfibrinogenemia
subset: ordo_clinical_subtype {source="Orphanet:248408"}
xref: ICD10:D68.2 {source="ORDO:248408/attributed", source="ORDO:248408/ntbt", source="Orphanet:248408"}
xref: Orphanet:248408 {source="MONDO:equivalentTo"}
xref: UMLS:CN201839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008737 ! congenital afibrinogenemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201839
property_value: exactMatch Orphanet:248408

[Term]
id: MONDO:0016639
name: lower limb deficiency-hypospadias syndrome
def: "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." [Orphanet:2487]
subset: ordo_malformation_syndrome {source="Orphanet:2487"}
synonym: "Fried-Goldberg-Mundel syndrome" EXACT [Orphanet:2487]
synonym: "lower limb malformation-hypospadias syndrome" RELATED [Orphanet:2487]
xref: MESH:C535640 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2487 {source="MONDO:equivalentTo"}
xref: UMLS:C2930962 {source="Orphanet:2487", source="ORDO:2487/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015620 {source="Orphanet:2487"} ! syndromic urogenital tract malformation
property_value: exactMatch http://identifiers.org/mesh/C535640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930962
property_value: exactMatch Orphanet:2487

[Term]
id: MONDO:0016640
name: fibrous dysplasia of bone
def: "Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis." [Orphanet:249]
subset: ordo_malformation_syndrome {source="Orphanet:249"}
xref: GARD:0006444 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q78.1 {source="ORDO:249/e", source="Orphanet:249", source="ORDO:249/specific", source="MONDO:superClassOf"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10016664 {source="ORDO:249/e", source="Orphanet:249"}
xref: MESH:D005357 {source="ORDO:249/e", source="Orphanet:249", source="MONDO:equivalentTo"}
xref: Orphanet:249 {source="MONDO:equivalentTo"}
xref: SCTID:10623005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.09"}
is_a: MONDO:0019708 {source="Orphanet:249"} ! primary bone dysplasia with disorganized development of skeletal components
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/meddra/10016664
property_value: exactMatch http://identifiers.org/mesh/D005357
property_value: exactMatch http://identifiers.org/snomedct/10623005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016063
property_value: exactMatch Orphanet:249

[Term]
id: MONDO:0016641
name: limb transversal defect-cardiac anomaly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2492"}
synonym: "Hecht-Scott syndrome" EXACT [Orphanet:2492]
xref: ICD10:Q87.2 {source="Orphanet:2492", source="ORDO:2492/attributed", source="ORDO:2492/ntbt"}
xref: MESH:C535856 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2492 {source="MONDO:equivalentTo"}
xref: UMLS:C2931047 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2492", source="ORDO:2492/e"}
is_a: MONDO:0017432 {source="Orphanet:2492"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="Orphanet:2492", source="Orphanet:2492/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931047
property_value: exactMatch Orphanet:2492

[Term]
id: MONDO:0016642
name: meningioma (disease)
def: "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" [NCIT:C3230]
subset: ordo_disease {source="Orphanet:2495"}
synonym: "intracranial meningioma" EXACT [DOID:3565]
synonym: "meningeal neoplasm" RELATED [DOID:3565]
synonym: "meningioma" EXACT [MONDO:ambiguous, NCIT:C3230]
synonym: "meningioma, NOS" RELATED EXCLUDE [NCIT:C3230]
synonym: "meningothelial cell tumor" RELATED [DOID:3565]
synonym: "neoplasm of the meninges" EXACT EXCLUDE [DOID:3565]
synonym: "primary meningeal tumor" RELATED [DOID:3565]
synonym: "supratentorial meningioma" RELATED [DOID:3565]
xref: DOID:3565 {source="MONDO:equivalentTo"}
xref: GARD:0007015 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002858 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D32.9 {source="Orphanet:2495", source="DOID:3565", source="ORDO:2495/ntbt"}
xref: ICDO:9530/0 {source="NCIT:C3230"}
xref: MedDRA:10027191 {source="Orphanet:2495", source="ORDO:2495/e"}
xref: MESH:D008579 {source="Orphanet:2495", source="DOID:3565", source="MONDO:equivalentTo", source="ORDO:2495/e"}
xref: NCIT:C3230 {source="DOID:3565", source="MONDO:equivalentTo"}
xref: ONCOTREE:MNG {source="MONDO:equivalentTo"}
xref: Orphanet:2495 {source="MONDO:equivalentTo"}
xref: SCTID:302820008 {source="DOID:3565", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.80/0.59/0.09"}
xref: UMLS:C0025286 {source="Orphanet:2495", source="DOID:3565", source="NCIT:C3230", source="MONDO:equivalentTo", source="ORDO:2495/e"}
is_a: MONDO:0016743 {source="MONDOLEX:0016642", source="NCIT:C3230", source="ONCOTREE:MNG", source="Orphanet:2495", source="linkedlifedata"} ! tumor of meninges
property_value: closeMatch http://identifiers.org/mesh/D008577
property_value: closeMatch http://identifiers.org/snomedct/127579001
property_value: closeMatch http://identifiers.org/snomedct/134307003
property_value: closeMatch http://identifiers.org/snomedct/154621002
property_value: closeMatch http://identifiers.org/snomedct/189940004
property_value: closeMatch http://identifiers.org/snomedct/189941000
property_value: closeMatch http://identifiers.org/snomedct/189945009
property_value: closeMatch http://identifiers.org/snomedct/269643009
property_value: closeMatch http://identifiers.org/snomedct/393566004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349604
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334698
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336537
property_value: closeMatch NCIT:C4656
property_value: closeMatch NCIT:C6971
property_value: closeMatch NCIT:C7048
property_value: exactMatch DOID:3565
property_value: exactMatch http://identifiers.org/meddra/10027191
property_value: exactMatch http://identifiers.org/mesh/D008579
property_value: exactMatch http://identifiers.org/snomedct/302820008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025286
property_value: exactMatch NCIT:C3230
property_value: exactMatch Orphanet:2495

[Term]
id: MONDO:0016643
name: frontonasal dysplasia
def: "Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion." [NCIT:C129028]
subset: ordo_group_of_disorders {source="Orphanet:250"}
synonym: "FND1" EXACT [NCIT:C129028]
synonym: "frontonasal dysplasia 1" EXACT [NCIT:C129028]
synonym: "median cleft face syndrome" EXACT [Orphanet:250]
synonym: "median cleft syndrome" RELATED [GARD:0002392]
xref: DC:0000166 {source="MONDO:equivalentTo"}
xref: GARD:0002392 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.8 {source="ORDO:250/attributed", source="ORDO:250/ntbt", source="Orphanet:250"}
xref: MESH:C538065 {source="MONDO:equivalentTo", source="ORDO:250/e", source="Orphanet:250"}
xref: NCIT:C129028 {source="MONDO:kboom-pr-0.95/0.79/1.86", source="MONDO:equivalentTo"}
xref: OMIMPS:136760 {source="DC:0000166", source="MONDO:equivalentTo"}
xref: Orphanet:250 {source="MONDO:equivalentTo"}
xref: SCTID:86610004 {source="MONDO:kboom-pr-0.72/0.43/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C1876203 {source="MONDO:equivalentTo", source="NCIT:C129028", source="ORDO:250/e", source="Orphanet:250"}
is_a: MONDO:0019710 {source="Orphanet:250"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch http://identifiers.org/mesh/C538065
property_value: exactMatch http://identifiers.org/snomedct/86610004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876203
property_value: exactMatch NCIT:C129028
property_value: exactMatch Orphanet:250

[Term]
id: MONDO:0016644
name: logopenic progressive aphasia
def: "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge." [Orphanet:250831]
subset: gard_rare {source="GARD:0010791"}
subset: ordo_disease {source="Orphanet:250831"}
synonym: "Logopenic primary progressive aphasia" EXACT [Orphanet:250831]
synonym: "Logopenic variant PPA" EXACT [Orphanet:250831]
synonym: "LPA" EXACT [Orphanet:250831]
xref: GARD:0010791 {source="MONDO:equivalentTo"}
xref: ICD10:G31.0 {source="ORDO:250831/ntbt", source="Orphanet:250831"}
xref: Orphanet:250831 {source="MONDO:equivalentTo"}
xref: SCTID:716380002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4049711 {source="NCIT:C123160", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019806 {source="Orphanet:250831"} ! primary progressive aphasia
property_value: exactMatch http://identifiers.org/snomedct/716380002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4049711
property_value: exactMatch Orphanet:250831
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia xsd:anyURI {source="GARD:0010791"}

[Term]
id: MONDO:0016645
name: obsolete rare neoplastic disease
def: "Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature." [MONDO:cjm]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:250908"}
synonym: "rare neoplasm" EXACT [MONDO:cjm]
synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare]
synonym: "rare neoplastic disease" EXACT [MONDO:patterns/rare]
synonym: "rare neoplastic disease or syndrome" EXACT [MONDO:patterns/rare]
synonym: "rare tumoral disease" EXACT [Orphanet:250908]
xref: Orphanet:250908 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN201870 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201870
property_value: exactMatch Orphanet:250908
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023370

[Term]
id: MONDO:0016646
name: autosomal dominant optic atrophy and peripheral neuropathy
def: "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." [Orphanet:250932]
subset: ordo_disease {source="Orphanet:250932"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="Orphanet:250932", source="ORDO:250932/attributed", source="ORDO:250932/ntbt"}
xref: Orphanet:250932 {source="MONDO:equivalentTo"}
xref: UMLS:CN201872 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016799 {source="Orphanet:250932"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0020250 {source="Orphanet:250932"} ! autosomal dominant optic atrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201872
property_value: exactMatch Orphanet:250932

[Term]
id: MONDO:0016647
name: autosomal recessive Stickler syndrome
def: "gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" [Orphanet:250984]
subset: ordo_clinical_subtype {source="Orphanet:250984"}
synonym: "Stickler syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:Q87.5 {source="ORDO:250984/attributed", source="ORDO:250984/ntbt", source="Orphanet:250984"}
xref: Orphanet:250984 {source="MONDO:equivalentTo"}
xref: UMLS:CN201875 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019354 {source="MONDO:Redundant", source="Orphanet:250984"} ! Stickler syndrome
is_a: MONDO:0019692 {source="Orphanet:250984"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201875
property_value: exactMatch Orphanet:250984

[Term]
id: MONDO:0016648
name: multiple epiphyseal dysplasia (disease)
def: "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." [Orphanet:251]
subset: ordo_group_of_disorders {source="Orphanet:251"}
synonym: "EDM" EXACT [Orphanet:251]
synonym: "epiphyseal dysplasia, multiple" RELATED [GARD:0010756, OMIMPS:132400]
synonym: "MED" EXACT [Orphanet:251]
synonym: "multiple epiphyseal dysplasia" EXACT [MONDO:ambiguous]
synonym: "Polyepiphyseal dysplasia" EXACT [Orphanet:251]
synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721]
xref: COHD:434161 {source="MONDO:equivalentTo"}
xref: DOID:12721 {source="MONDO:equivalentTo"}
xref: GARD:0010756 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002654 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q77.3 {source="MONDO:relatedTo", source="ORDO:251/index", source="ORDO:251/ntbt", source="Orphanet:251"}
xref: ICD9:756.56 {source="DOID:12721", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028197 {source="ORDO:251/e", source="Orphanet:251"}
xref: OMIMPS:132400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:251 {source="DOID:12721", source="MONDO:equivalentTo"}
xref: SCTID:59708000 {source="DOID:12721", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005516 {source="DOID:12721", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia
is_a: MONDO:0019692 {source="Orphanet:251"} ! multiple epiphyseal dysplasia and pseudoachondroplasia
property_value: closeMatch http://identifiers.org/snomedct/205504001
property_value: exactMatch DOID:12721
property_value: exactMatch http://identifiers.org/meddra/10028197
property_value: exactMatch http://identifiers.org/snomedct/59708000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026760
property_value: exactMatch Orphanet:251

[Term]
id: MONDO:0016649
name: Warburg micro syndrome
def: "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." [Orphanet:2510]
subset: ordo_malformation_syndrome {source="Orphanet:2510"}
synonym: "micro syndrome" EXACT [DOID:0060237]
synonym: "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism" RELATED [GARD:0005534]
synonym: "WARBM" EXACT [DOID:0060237, Orphanet:2510]
synonym: "Warburg micro syndrome" EXACT [Orphanet:2510]
synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [DOID:0060237]
xref: DOID:0060237 {source="MONDO:equivalentTo"}
xref: GARD:0005534 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:2510", source="ORDO:2510/attributed", source="ORDO:2510/ntbt"}
xref: OMIMPS:600118 {source="DOID:0060237", source="MONDO:equivalentTo"}
xref: Orphanet:2510 {source="DOID:0060237", source="MONDO:equivalentTo"}
xref: UMLS:CN158709 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0060237", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015147 {source="Orphanet:2510"} ! other syndrome with lissencephaly as a major feature
is_a: MONDO:0015159 {source="Orphanet:2510"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="Orphanet:2510"} ! syndromic microphthalmia
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/mesh/C536681
property_value: exactMatch DOID:0060237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838625
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN158709
property_value: exactMatch Orphanet:2510

[Term]
id: MONDO:0016650
name: paternal uniparental disomy of chromosome 1
def: "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:251004]
subset: ordo_malformation_syndrome {source="Orphanet:251004"}
synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251004]
synonym: "UPD(1)pat" EXACT [Orphanet:251004]
xref: ICD10:Q99.8 {source="ORDO:251004/attributed", source="ORDO:251004/ntbt", source="Orphanet:251004"}
xref: Orphanet:251004 {source="MONDO:equivalentTo"}
xref: SCTID:766719006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:251004"} ! uniparental disomy of paternal origin
property_value: exactMatch http://identifiers.org/snomedct/766719006
property_value: exactMatch Orphanet:251004

[Term]
id: MONDO:0016651
name: maternal uniparental disomy of chromosome 1
def: "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:251009]
subset: ordo_malformation_syndrome {source="Orphanet:251009"}
synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251009]
synonym: "UPD(1)mat" EXACT [Orphanet:251009]
xref: ICD10:Q99.8 {source="Orphanet:251009", source="ORDO:251009/attributed", source="ORDO:251009/ntbt"}
xref: Orphanet:251009 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:251009"} ! uniparental disomy of maternal origin
property_value: exactMatch Orphanet:251009

[Term]
id: MONDO:0016652
name: 2q31.1 microdeletion syndrome
def: "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." [Orphanet:251014]
subset: ordo_malformation_syndrome {source="Orphanet:251014"}
synonym: "Del(2)(q31.1)" EXACT [Orphanet:251014]
synonym: "monosomy 2q31.1" EXACT [Orphanet:251014]
xref: ICD10:Q93.5 {source="ORDO:251014/attributed", source="ORDO:251014/ntbt", source="Orphanet:251014"}
xref: Orphanet:251014 {source="MONDO:equivalentTo"}
xref: SCTID:716387004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274647 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201880 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016901 {source="MONDOLEX:0016652", source="Orphanet:251014"} ! partial deletion of the long arm of chromosome 2
property_value: exactMatch http://identifiers.org/snomedct/716387004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201880
property_value: exactMatch Orphanet:251014

[Term]
id: MONDO:0016653
name: 2q33.1 microdeletion syndrome
def: "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." [Orphanet:251028]
subset: ordo_malformation_syndrome {source="Orphanet:251028"}
synonym: "Del(2)(q33.1)" EXACT [Orphanet:251028]
synonym: "monosomy 2q33.1" EXACT [Orphanet:251028]
xref: ICD10:Q93.5 {source="ORDO:251028/attributed", source="ORDO:251028/ntbt", source="Orphanet:251028"}
xref: Orphanet:251028 {source="MONDO:equivalentTo"}
xref: SCTID:763062006 {source="MONDO:equivalentTo"}
xref: UMLS:CN201882 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016901 {source="MONDOLEX:0016653", source="Orphanet:251028"} ! partial deletion of the long arm of chromosome 2
property_value: exactMatch http://identifiers.org/snomedct/763062006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201882
property_value: exactMatch Orphanet:251028

[Term]
id: MONDO:0016654
name: ring chromosome 5
def: "Gene expression cluster 5 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121984]
subset: gard_rare {source="GARD:0010841"}
subset: ordo_malformation_syndrome {source="Orphanet:251043"}
synonym: "chromosome 5 ring" RELATED [GARD:0010841]
synonym: "R5" RELATED [GARD:0010841]
synonym: "Ring 5" RELATED [GARD:0010841]
synonym: "Ring chromosome 5 syndrome" RELATED [Orphanet:251043]
synonym: "Ring chromosome type 5" EXACT [MONDORULE:1, Orphanet:251043]
synonym: "rose cluster 5" EXACT [NCIT:C121984]
xref: GARD:0010841 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:251043", source="ORDO:251043/attributed", source="ORDO:251043/ntbt"}
xref: NCIT:C121984 {source="MONDO:equivalentTo"}
xref: Orphanet:251043 {source="MONDO:equivalentTo"}
xref: SCTID:765487008 {source="MONDO:equivalentTo"}
xref: UMLS:C4050064 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="Orphanet:251043"} ! ring chromosome
property_value: exactMatch http://identifiers.org/snomedct/765487008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050064
property_value: exactMatch NCIT:C121984
property_value: exactMatch Orphanet:251043
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5 xsd:anyURI {source="GARD:0010841"}

[Term]
id: MONDO:0016655
name: 6p22 microdeletion syndrome
def: "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." [Orphanet:251046]
subset: ordo_malformation_syndrome {source="Orphanet:251046"}
synonym: "Del(6)(p22)" EXACT [Orphanet:251046]
synonym: "monosomy 6p22" EXACT [Orphanet:251046]
xref: ICD10:Q93.5 {source="ORDO:251046/attributed", source="ORDO:251046/ntbt", source="Orphanet:251046"}
xref: Orphanet:251046 {source="MONDO:equivalentTo"}
xref: SCTID:719662000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C4304528 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201884 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016888 {source="Orphanet:251046"} ! partial deletion of the short arm of chromosome 6
property_value: exactMatch http://identifiers.org/snomedct/719662000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201884
property_value: exactMatch Orphanet:251046

[Term]
id: MONDO:0016656
name: 7q31 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:251061"}
synonym: "Del(7)(q31)" EXACT [Orphanet:251061]
synonym: "monosomy 7q31" EXACT [Orphanet:251061]
xref: ICD10:Q93.5 {source="ORDO:251061/attributed", source="ORDO:251061/ntbt", source="Orphanet:251061"}
xref: Orphanet:251061 {source="MONDO:equivalentTo"}
xref: UMLS:CN201886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016906 {source="MONDOLEX:0016656", source="Orphanet:251061"} ! partial deletion of the long arm of chromosome 7
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201886
property_value: exactMatch Orphanet:251061

[Term]
id: MONDO:0016657
name: 8p11.2 deletion syndrome
def: "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." [Orphanet:251066]
subset: ordo_malformation_syndrome {source="Orphanet:251066"}
synonym: "Del(8)(p11.2)" EXACT [Orphanet:251066]
synonym: "monosomy 8p11.2" EXACT [Orphanet:251066]
xref: ICD10:Q93.5 {source="Orphanet:251066", source="ORDO:251066/attributed", source="ORDO:251066/ntbt"}
xref: Orphanet:251066 {source="MONDO:equivalentTo"}
xref: SCTID:719646006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304505 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201887 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016890 {source="MONDOLEX:0016657", source="Orphanet:251066"} ! partial deletion of the short arm of chromosome 8
property_value: exactMatch http://identifiers.org/snomedct/719646006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304505
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201887
property_value: exactMatch Orphanet:251066

[Term]
id: MONDO:0016658
name: 8p23.1 microdeletion syndrome
def: "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." [Orphanet:251071]
subset: ordo_malformation_syndrome {source="Orphanet:251071"}
synonym: "8p23.1 deletion" RELATED [GARD:0003769]
synonym: "chromosome 8p23.1 deletion" RELATED [GARD:0003769]
synonym: "Del(8)(p23.1)" EXACT [Orphanet:251071]
synonym: "deletion 8p23.1" RELATED [GARD:0003769]
synonym: "monosomy 8p23.1" EXACT [Orphanet:251071]
xref: GARD:0003769 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.5 {source="ORDO:251071/attributed", source="ORDO:251071/ntbt", source="Orphanet:251071"}
xref: MESH:C537827 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:251071 {source="MONDO:equivalentTo"}
xref: SCTID:716381003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN201888 {source="MONDO:equivalentTo"}
is_a: MONDO:0015620 {source="Orphanet:251071"} ! syndromic urogenital tract malformation
is_a: MONDO:0016890 {source="MONDOLEX:0016658", source="Orphanet:251071"} ! partial deletion of the short arm of chromosome 8
property_value: exactMatch http://identifiers.org/mesh/C537827
property_value: exactMatch http://identifiers.org/snomedct/716381003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201888
property_value: exactMatch Orphanet:251071

[Term]
id: MONDO:0016659
name: 8p23.1 duplication syndrome
def: "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." [Orphanet:251076]
subset: gard_rare {source="GARD:0010304"}
subset: ordo_malformation_syndrome {source="Orphanet:251076"}
synonym: "dup(8)(p23.1p23.1)" EXACT [Orphanet:251076]
synonym: "trisomy 8p23.1" EXACT [Orphanet:251076]
xref: GARD:0010304 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="Orphanet:251076", source="ORDO:251076/attributed", source="ORDO:251076/ntbt"}
xref: Orphanet:251076 {source="MONDO:equivalentTo"}
xref: SCTID:765140006 {source="MONDO:equivalentTo"}
xref: UMLS:CN201889 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016945 {source="MONDOLEX:0016659", source="Orphanet:251076"} ! partial duplication of the short arm of chromosome 8
property_value: exactMatch http://identifiers.org/snomedct/765140006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201889
property_value: exactMatch Orphanet:251076
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome xsd:anyURI {source="GARD:0010304"}

[Term]
id: MONDO:0016660
name: autosomal recessive primary microcephaly
def: "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." [Orphanet:2512]
subset: clingen
subset: gard_rare {source="GARD:0012117"}
subset: ordo_etiological_subtype {source="Orphanet:2512"}
synonym: "MCPH" EXACT [Orphanet:2512]
synonym: "microcephalia vera" EXACT [Orphanet:2512]
synonym: "microcephaly vera" EXACT [Orphanet:2512]
synonym: "microcephaly, primary autosomal recessive" EXACT [OMIMPS:251200]
synonym: "microcephaly, primary, autosomal recessive" EXACT [MONDO:0000061]
synonym: "true microcephaly" EXACT [Orphanet:2512]
xref: DC:0000277 {source="MONDO:equivalentTo"}
xref: DOID:0070296 {source="MONDO:equivalentTo"}
xref: GARD:0012117 {source="MONDO:equivalentTo"}
xref: ICD10:Q02 {source="ORDO:2512/attributed", source="ORDO:2512/ntbt", source="Orphanet:2512"}
xref: MESH:C579935 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:251200 {source="MONDO:equivalentTo", source="DC:0000277"}
xref: Orphanet:2512 {source="MONDO:equivalentTo"}
xref: SCTID:715981004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3711387 {source="MONDO:equivalentTo", source="Orphanet:2512"}
is_a: MONDO:0016056 {source="Orphanet:2512"} ! isolated congenital microcephaly
is_a: MONDO:0020262 {source="Orphanet:2512"} ! nervous system anomaly with eye involvement
property_value: exactMatch DOID:0070296
property_value: exactMatch http://identifiers.org/mesh/C579935
property_value: exactMatch http://identifiers.org/snomedct/715981004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711387
property_value: exactMatch Orphanet:2512
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly xsd:anyURI {source="GARD:0012117"}

[Term]
id: MONDO:0016661
name: infantile onset panniculitis with uveitis and systemic granulomatosis
subset: ordo_disease {source="Orphanet:251304"}
xref: ICD10:M08.8 {source="ORDO:251304/ntbt", source="Orphanet:251304"}
xref: Orphanet:251304 {source="MONDO:equivalentTo"}
is_a: MONDO:0017370 {source="Orphanet:251304"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017955 {source="Orphanet:251304"} ! granulomatous autoinflammatory syndrome
property_value: exactMatch Orphanet:251304

[Term]
id: MONDO:0016662
name: idiopathic recurrent pericarditis
def: "Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." [Orphanet:251307]
subset: ordo_disease {source="Orphanet:251307"}
synonym: "idiopathic relapsing pericarditis" EXACT [Orphanet:251307]
xref: ICD10:I09.2 {source="MONDO:relatedTo", source="ORDO:251307/ntbt", source="Orphanet:251307"}
xref: Orphanet:251307 {source="MONDO:equivalentTo"}
xref: SCTID:766704005 {source="MONDO:equivalentTo"}
is_a: MONDO:0017957 {source="Orphanet:251307"} ! unclassified autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/snomedct/766704005
property_value: exactMatch Orphanet:251307

[Term]
id: MONDO:0016663
name: overlapping connective tissue disease
subset: ordo_group_of_disorders {source="Orphanet:251312"}
xref: ICD10:M35.1 {source="ORDO:251312/e", source="Orphanet:251312"}
xref: MedDRA:10027754 {source="ORDO:251312/e", source="Orphanet:251312"}
xref: Orphanet:251312 {source="MONDO:equivalentTo"}
xref: UMLS:CN201903 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015939 {source="Orphanet:251312"} ! systemic autoimmune disease
property_value: exactMatch http://identifiers.org/meddra/10027754
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201903
property_value: exactMatch Orphanet:251312

[Term]
id: MONDO:0016664
name: drug-induced vasculitis
def: "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." [NCIT:P378]
subset: ordo_disease {source="Orphanet:251325"}
synonym: "drug induced cutaneous vasculitis" EXACT [NCIT:C112204]
synonym: "drug induced vasculitis" EXACT [NCIT:C112204]
xref: ICD10:M31.8 {source="ORDO:251325/ntbt", source="Orphanet:251325"}
xref: NCIT:C112204 {source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo"}
xref: Orphanet:251325 {source="MONDO:equivalentTo"}
xref: UMLS:C3812646 {source="MONDO:equivalentTo", source="NCIT:C112204", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0018640 {source="MONDO:Redundant", source="Orphanet:251325"} ! secondary vasculitis
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3812646
property_value: exactMatch NCIT:C112204
property_value: exactMatch Orphanet:251325

[Term]
id: MONDO:0016665
name: unclassified vasculitis
subset: ordo_disease {source="Orphanet:251328"}
xref: ICD10:M31.8 {source="Orphanet:251328", source="ORDO:251328/ntbt"}
xref: Orphanet:251328 {source="MONDO:equivalentTo"}
is_a: MONDO:0018882 {source="Orphanet:251328"} ! vasculitis
property_value: exactMatch Orphanet:251328

[Term]
id: MONDO:0016666
name: unexplained long-lasting fever/inflammatory syndrome
subset: ordo_disease {source="Orphanet:251332"}
xref: Orphanet:251332 {source="MONDO:equivalentTo"}
xref: UMLS:CN201905 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:251332"} ! systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201905
property_value: exactMatch Orphanet:251332

[Term]
id: MONDO:0016667
name: sickle cell disease associated with an other hemoglobin anomaly
subset: gard_rare {source="GARD:0012459"}
subset: ordo_group_of_disorders {source="Orphanet:251355"}
synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355]
xref: GARD:0012459 {source="MONDO:equivalentTo"}
xref: ICD10:D57.2 {source="Orphanet:251355", source="ORDO:251355/e", source="ORDO:251355/specific"}
xref: Orphanet:251355 {source="MONDO:equivalentTo"}
xref: UMLS:CN201907 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017146 {source="Orphanet:251355"} ! sickle cell disease and related diseases
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201907
property_value: exactMatch Orphanet:251355
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly xsd:anyURI {source="GARD:0012459"}

[Term]
id: MONDO:0016668
name: sickle cell-beta-thalassemia disease syndrome
def: "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease . Affected people havea differentchange ( mutation ) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." [GARD:0010333]
subset: gard_rare
subset: ordo_disease {source="Orphanet:251359"}
synonym: "Hb S beta-thalassemia" RELATED [GARD:0010333]
synonym: "Hb S-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "HbS - beta-thalassemia" RELATED [GARD:0010333]
synonym: "HbS-beta-thalassemia syndrome" EXACT [GARD:0010333, Orphanet:251359]
synonym: "Hemoglobin sickle-beta thalassemia" RELATED [GARD:0010333]
synonym: "S-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "sickle beta thalassemia" RELATED [GARD:0010333]
synonym: "sickle cell - beta-thalassemia disease" RELATED [GARD:0010333]
synonym: "sickle cell-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "sickle cell-Beta-thalassemia" EXACT [NCIT:C95539]
synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333]
xref: GARD:0010333 {source="MONDO:equivalentTo"}
xref: ICD10:D57.2 {source="ORDO:251359/inclusion", source="ORDO:251359/ntbt", source="Orphanet:251359"}
xref: MedDRA:10040655 {source="Orphanet:251359", source="ORDO:251359/e"}
xref: MedDRA:10055579 {source="Orphanet:251359", source="ORDO:251359/e"}
xref: NCIT:C95539 {source="MONDO:equivalentTo"}
xref: Orphanet:251359 {source="GARD:0010333", source="MONDO:equivalentTo"}
xref: SCTID:127041004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016667 {source="Orphanet:251359"} ! sickle cell disease associated with an other hemoglobin anomaly
property_value: exactMatch http://identifiers.org/meddra/10040655
property_value: exactMatch http://identifiers.org/meddra/10055579
property_value: exactMatch http://identifiers.org/snomedct/127041004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0857812
property_value: exactMatch NCIT:C95539
property_value: exactMatch Orphanet:251359
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia xsd:anyURI {source="GARD:0010333"}

[Term]
id: MONDO:0016669
name: sickle cell-hemoglobin c disease syndrome
subset: ordo_disease {source="Orphanet:251365"}
synonym: "HbSC disease" EXACT [Orphanet:251365]
synonym: "sickle cell - hemoglobin C disease" RELATED [GARD:0006584]
xref: GARD:0006584 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D57.2 {source="ORDO:251365/ntbt", source="Orphanet:251365", source="ORDO:251365/inclusion"}
xref: MedDRA:10057072 {source="ORDO:251365/e", source="Orphanet:251365"}
xref: Orphanet:251365 {source="MONDO:equivalentTo"}
xref: UMLS:C0019034 {source="ORDO:251365/e", source="MONDO:equivalentTo", source="Orphanet:251365", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016667 {source="Orphanet:251365"} ! sickle cell disease associated with an other hemoglobin anomaly
property_value: exactMatch http://identifiers.org/meddra/10057072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019034
property_value: exactMatch Orphanet:251365

[Term]
id: MONDO:0016670
name: sickle cell-hemoglobin d disease syndrome
subset: ordo_disease {source="Orphanet:251370"}
synonym: "HbSD disease" EXACT [Orphanet:251370]
synonym: "sickle cell - hemoglobin D disease" RELATED [GARD:0012458]
xref: GARD:0012458 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D57.2 {source="Orphanet:251370", source="ORDO:251370/inclusion", source="ORDO:251370/ntbt"}
xref: MedDRA:10056724 {source="Orphanet:251370", source="ORDO:251370/e"}
xref: Orphanet:251370 {source="MONDO:equivalentTo"}
xref: UMLS:C0272084 {source="Orphanet:251370", source="MONDO:equivalentTo", source="ORDO:251370/e", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016667 {source="Orphanet:251370"} ! sickle cell disease associated with an other hemoglobin anomaly
property_value: exactMatch http://identifiers.org/meddra/10056724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272084
property_value: exactMatch Orphanet:251370

[Term]
id: MONDO:0016671
name: sickle cell-hemoglobin E disease syndrome
subset: ordo_disease {source="Orphanet:251375"}
synonym: "HbSE disease" EXACT [Orphanet:251375]
xref: ICD10:D57.2 {source="Orphanet:251375", source="ORDO:251375/ntbt", source="ORDO:251375/inclusion"}
xref: Orphanet:251375 {source="MONDO:equivalentTo"}
xref: UMLS:C0272085 {source="Orphanet:251375", source="ORDO:251375/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016667 {source="Orphanet:251375"} ! sickle cell disease associated with an other hemoglobin anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272085
property_value: exactMatch Orphanet:251375

[Term]
id: MONDO:0016672
name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
subset: ordo_disease {source="Orphanet:251380"}
synonym: "HPFH-sickle cell disease syndrome" EXACT [Orphanet:251380]
xref: HGNC:3627 {source="ORDO:251380/btnt", source="Orphanet:251380"}
xref: HGNC:5153 {source="ORDO:251380/btnt", source="Orphanet:251380"}
xref: ICD10:D57.2 {source="ORDO:251380/attributed", source="ORDO:251380/ntbt", source="Orphanet:251380"}
xref: Orphanet:251380 {source="MONDO:equivalentTo"}
xref: UMLS:CN201912 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016667 {source="Orphanet:251380"} ! sickle cell disease associated with an other hemoglobin anomaly
property_value: broadMatch http://identifiers.org/omim/141749
property_value: broadMatch http://identifiers.org/omim/142470
property_value: broadMatch http://identifiers.org/omim/613566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201912
property_value: exactMatch Orphanet:251380

[Term]
id: MONDO:0016673
name: localized junctional epidermolysis bullosa, non-Herlitz type
def: "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." [Orphanet:251393]
subset: gard_rare {source="GARD:0012923"}
subset: ordo_clinical_subtype {source="Orphanet:251393"}
synonym: "JEB-nH loc" EXACT [Orphanet:251393]
xref: GARD:0012923 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.8 {source="Orphanet:251393", source="ORDO:251393/attributed", source="ORDO:251393/ntbt"}
xref: Orphanet:251393 {source="MONDO:equivalentTo"}
xref: UMLS:CN201914 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009180 {source="MONDOLEX:0016673", source="Orphanet:251393"} ! junctional epidermolysis bullosa, non-Herlitz type
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201914
property_value: exactMatch Orphanet:251393
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type xsd:anyURI {source="GARD:0012923"}

[Term]
id: MONDO:0016674
name: 46,XY partial gonadal dysgenesis
def: "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." [Orphanet:251510]
comment: Editor note: todo - make disjoint with complete form (some classes inherit from both)
subset: ordo_malformation_syndrome {source="Orphanet:251510"}
synonym: "46,XY partial testicular dysgenesis" EXACT [Orphanet:251510]
synonym: "46,XY PGD" EXACT [Orphanet:251510]
xref: ICD10:Q56.1 {source="ORDO:251510/attributed", source="ORDO:251510/ntbt", source="Orphanet:251510"}
xref: Orphanet:251510 {source="MONDO:equivalentTo"}
xref: SCTID:725045004 {source="MONDO:equivalentTo"}
xref: UMLS:C4510744 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017966 {source="Orphanet:251510"} ! 46,XY disorder of gonadal development
is_a: MONDO:0018402 {source="MONDO:Redundant", source="Orphanet:251510"} ! female infertility due to gonadal dysgenesis
is_a: MONDO:0020038 {source="Orphanet:251510"} ! gonadal dysgenesis of gynecological interest
is_a: MONDO:0020090 {source="Orphanet:251510"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/snomedct/725045004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510744
property_value: exactMatch Orphanet:251510

[Term]
id: MONDO:0016675
name: distal arthrogryposis type 10
subset: ordo_malformation_syndrome {source="Orphanet:251515"}
synonym: "arthrogryposis, distal, type 10" RELATED [MONDO:Lexical, OMIM:187370]
synonym: "arthrogryposis, distal, type 10; DA10" RELATED [OMIM:187370]
synonym: "congenital plantar contractures" RELATED [OMIM:187370]
synonym: "DA10" EXACT [MONDO:Lexical, OMIM:187370, Orphanet:251515]
synonym: "distal arthrogryposis type 10" EXACT [MONDO:0008539]
synonym: "plantar flexion contracture" EXACT [Orphanet:251515]
synonym: "short Achilles tendon" EXACT [Orphanet:251515]
synonym: "short tendo calcaneus" EXACT [Orphanet:251515]
synonym: "tendo calcaneus, short" RELATED [OMIM:187370]
xref: ICD10:Q68.8 {source="Orphanet:251515", source="ORDO:251515/attributed", source="ORDO:251515/ntbt"}
xref: MESH:C566069 {source="MONDO:equivalentTo"}
xref: OMIM:187370 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="Orphanet:251515", source="ORDO:251515/ntbt"}
xref: Orphanet:251515 {source="MONDO:equivalentTo"}
xref: SCTID:275336002 {source="MONDO:equivalentTo"}
xref: UMLS:C1861238 {source="MEDGEN:kboom-pr98-c99", source="OMIM:187370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251515"}
is_a: MONDO:0019942 {source="DC-OMIM:187370", source="Orphanet:251515"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C566069
property_value: exactMatch http://identifiers.org/omim/187370
property_value: exactMatch http://identifiers.org/snomedct/275336002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861238
property_value: exactMatch Orphanet:251515

[Term]
id: MONDO:0016676
name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
def: "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." [Orphanet:251523]
subset: ordo_disease {source="Orphanet:251523"}
synonym: "hyperzincemia and hypercalprotectinemia" EXACT [Orphanet:251523]
xref: ICD10:E83.2 {source="ORDO:251523/attributed", source="ORDO:251523/ntbt", source="Orphanet:251523"}
xref: Orphanet:251523 {source="MONDO:equivalentTo"}
xref: UMLS:C1860229 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:251523"}
is_a: MONDO:0008691 ! zinc, elevated plasma
is_a: MONDO:0017764 {source="Orphanet:251523"} ! disorder of zinc metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860229
property_value: exactMatch Orphanet:251523

[Term]
id: MONDO:0016677
name: toxic or drug-related embryofetopathy
def: "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." [MESH:D000014]
subset: ordo_group_of_disorders {source="Orphanet:251529"}
xref: MESH:D000014 {source="MONDO:equivalentTo"}
xref: Orphanet:251529 {source="MONDO:equivalentTo"}
is_a: MONDO:0018880 {source="Orphanet:251529"} ! rare teratologic disease
property_value: exactMatch http://identifiers.org/mesh/D000014
property_value: exactMatch Orphanet:251529

[Term]
id: MONDO:0016678
name: maternal disease-related embryofetopathy
subset: ordo_group_of_disorders {source="Orphanet:251535"}
xref: Orphanet:251535 {source="MONDO:equivalentTo"}
xref: UMLS:CN201921 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018880 {source="Orphanet:251535"} ! rare teratologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201921
property_value: exactMatch Orphanet:251535

[Term]
id: MONDO:0016679
name: obsolete rare tumor of neuroepithelial tissue
def: "Any of the forms of neuroepithelial neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:251558"}
synonym: "rare neuroepithelial neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:251558 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:251558
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021193
consider: UMLS:C0206715 {source="ORDO:251558/e", source="Orphanet:251558"}

[Term]
id: MONDO:0016680
name: high grade astrocytic tumor
def: "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." [NCIT:C102897]
subset: ordo_group_of_disorders {source="Orphanet:251561"}
synonym: "high grade astrocytic neoplasm" EXACT [NCIT:C102897]
synonym: "high grade astrocytic tumor" EXACT [NCIT:C102897]
synonym: "high-grade astrocytic neoplasm" EXACT [NCIT:C102897]
synonym: "high-grade astrocytic tumor" EXACT [NCIT:C102897]
synonym: "high-grade astrocytoma" RELATED [Orphanet:251561]
xref: NCIT:C102897 {source="MONDO:equivalentTo"}
xref: Orphanet:251561 {source="MONDO:equivalentTo"}
xref: UMLS:C3640999 {source="MONDO:equivalentTo", source="NCIT:C102897"}
is_a: MONDO:0015917 {source="NCIT:C102897", source="Orphanet:251561/inferred"} ! malignant glioma
is_a: MONDO:0021636 {source="MONDOLEX:0016680", source="NCIT:C102897", source="Orphanet:251561"} ! astrocytic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3640999
property_value: exactMatch NCIT:C102897
property_value: exactMatch Orphanet:251561

[Term]
id: MONDO:0016681
name: gliosarcoma
def: "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." [NCIT:C3796]
subset: gard_rare {source="GARD:0005653"}
subset: ordo_histopathological_subtype {source="Orphanet:251576"}
synonym: "glioblastoma with a sarcomatous component" EXACT [NCIT:C3796]
synonym: "glioblastoma with sarcomatous component" EXACT [DOID:3071]
synonym: "gliosarcoma" EXACT [NCIT:C3796]
synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653]
xref: DOID:3071 {source="MONDO:equivalentTo"}
xref: EFO:1001465 {source="MONDO:equivalentTo"}
xref: GARD:0005653 {source="MONDO:equivalentTo"}
xref: ICD10:G71.9 {source="ORDO:251576/ntbt", source="Orphanet:251576"}
xref: ICDO:9442/3 {source="NCIT:C3796"}
xref: MedDRA:10018340 {source="ORDO:251576/e", source="Orphanet:251576"}
xref: MESH:D018316 {source="MONDO:equivalentTo", source="DOID:3071", source="MONDO:ontobio"}
xref: NCIT:C3796 {source="MONDO:equivalentTo", source="DOID:3071"}
xref: ONCOTREE:GSARC {source="MONDO:equivalentTo"}
xref: Orphanet:251576 {source="MONDO:equivalentTo"}
xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="ORDO:251576/e", source="NCIT:C3796", source="Orphanet:251576", source="DOID:3071"}
is_a: MONDO:0002501 ! brain glioblastoma
property_value: closeMatch http://identifiers.org/snomedct/189909006
property_value: closeMatch http://identifiers.org/snomedct/189918008
property_value: closeMatch http://identifiers.org/snomedct/35262004
property_value: exactMatch DOID:3071
property_value: exactMatch http://identifiers.org/meddra/10018340
property_value: exactMatch http://identifiers.org/mesh/D018316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206726
property_value: exactMatch NCIT:C3796
property_value: exactMatch Orphanet:251576
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma xsd:anyURI {source="GARD:0005653"}

[Term]
id: MONDO:0016682
name: giant cell glioblastoma
def: "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" [NCIT:C4325]
subset: ordo_histopathological_subtype {source="Orphanet:251579"}
synonym: "Monstrocellular sarcoma" EXACT [DOID:3074]
synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074]
xref: DOID:3074 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251579/ntbt", source="Orphanet:251579"}
xref: ICDO:9441/3 {source="NCIT:C4325"}
xref: NCIT:C4325 {source="MONDO:equivalentTo", source="DOID:3074"}
xref: Orphanet:251579 {source="MONDO:equivalentTo"}
xref: UMLS:C0334588 {source="MONDO:equivalentTo", source="Orphanet:251579", source="NCIT:C4325", source="ORDO:251579/e", source="DOID:3074"}
xref: UMLS:C0334593 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002501 ! brain glioblastoma
property_value: closeMatch http://identifiers.org/snomedct/44529004
property_value: exactMatch DOID:3074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334593
property_value: exactMatch NCIT:C4325
property_value: exactMatch Orphanet:251579

[Term]
id: MONDO:0016683
name: gliomatosis cerebri
def: "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" [NCIT:C4318]
subset: gard_rare {source="GARD:0006514"}
subset: ordo_disease {source="Orphanet:251582"}
synonym: "astrocytosis cerebri" EXACT [DOID:6128, NCIT:C4318]
synonym: "gliomatosis" EXACT [NCIT:C4318]
synonym: "gliomatosis cerebri" EXACT [NCIT:C4318]
synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128]
xref: DOID:6128 {source="MONDO:equivalentTo"}
xref: GARD:0006514 {source="MONDO:equivalentTo"}
xref: ICD10:C71.0 {source="Orphanet:251582", source="ORDO:251582/ntbt"}
xref: ICDO:9381/3 {source="NCIT:C4318"}
xref: MedDRA:10066254 {source="Orphanet:251582", source="ORDO:251582/e"}
xref: NCIT:C4318 {source="DOID:6128", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:251582 {source="MONDO:equivalentTo"}
xref: UMLS:C0334576 {source="Orphanet:251582", source="ORDO:251582/e", source="DOID:6128", source="MONDO:equivalentTo", source="NCIT:C4318"}
is_a: MONDO:0005499 ! brain glioma
is_a: MONDO:0016680 {source="Orphanet:251582"} ! high grade astrocytic tumor
property_value: closeMatch http://identifiers.org/snomedct/26138003
property_value: exactMatch DOID:6128
property_value: exactMatch http://identifiers.org/meddra/10066254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334576
property_value: exactMatch NCIT:C4318
property_value: exactMatch Orphanet:251582
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri xsd:anyURI {source="GARD:0006514"}

[Term]
id: MONDO:0016684
name: anaplastic astrocytoma
def: "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." [Orphanet:251589]
subset: ordo_disease {source="Orphanet:251589"}
synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477]
synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477]
synonym: "grade III astrocytic neoplasm" EXACT [NCIT:C9477]
synonym: "grade III astrocytic tumor" EXACT [DOID:3078, NCIT:C9477]
synonym: "grade III astrocytoma" EXACT [MONDO:0002504, NCIT:C9477]
synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C9477]
synonym: "malignant astrocytoma" EXACT [NCIT:C9477]
xref: DOID:3078 {source="MONDO:equivalentTo"}
xref: EFO:0002499 {source="MONDO:equivalentTo"}
xref: GARD:0005860 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C71.9 {source="ORDO:251589/ntbt", source="Orphanet:251589"}
xref: ICDO:9401/3 {source="NCIT:C9477"}
xref: MedDRA:10002224 {source="ORDO:251589/e", source="Orphanet:251589"}
xref: MedDRA:10060971 {source="ORDO:251589/e", source="Orphanet:251589"}
xref: NCIT:C9477 {source="DOID:3078", source="MONDO:equivalentTo"}
xref: ONCOTREE:AASTR {source="MONDO:equivalentTo"}
xref: Orphanet:251589 {source="MONDO:equivalentTo"}
xref: UMLS:C0334579 {source="DOID:3078", source="NCIT:C9477", source="MONDO:equivalentTo", source="ORDO:251589/e", source="Orphanet:251589"}
is_a: MONDO:0016680 {source="MONDOLEX:0016684", source="NCIT:C9477", source="Orphanet:251589"} ! high grade astrocytic tumor
is_a: MONDO:0019781 {source="DOID:3078", source="MONDOLEX:0016684", source="NCIT:C9477"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0020633 ! anaplastic cancer
property_value: closeMatch http://identifiers.org/snomedct/55353007
property_value: exactMatch DOID:3078
property_value: exactMatch http://identifiers.org/meddra/10002224
property_value: exactMatch http://identifiers.org/meddra/10060971
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334579
property_value: exactMatch NCIT:C9477
property_value: exactMatch Orphanet:251589

[Term]
id: MONDO:0016685
name: low-grade astrocytoma
subset: ordo_group_of_disorders {source="Orphanet:251592"}
xref: MedDRA:10065869 {source="ORDO:251592/e", source="Orphanet:251592"}
xref: Orphanet:251592 {source="MONDO:equivalentTo"}
is_a: MONDO:0019781 {source="MONDO:Redundant", source="MONDOLEX:0016685", source="Orphanet:251592"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021638 ! low grade astrocytic tumor
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: exactMatch http://identifiers.org/meddra/10065869
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1314694
property_value: exactMatch Orphanet:251592

[Term]
id: MONDO:0016686
name: diffuse astrocytoma
def: "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." [NCIT:C7173]
subset: ordo_disease {source="Orphanet:251595"}
synonym: "astrocytoma, diffuse" EXACT [NCIT:C7173]
synonym: "astrocytoma, diffuse, malignant" EXACT [NCIT:C7173]
synonym: "diffuse astrocytoma" EXACT [NCIT:C7173]
synonym: "fibrillary astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "gemistocytic astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "grade II astrocytic neoplasm" EXACT [NCIT:C7173]
synonym: "grade II astrocytic tumor" EXACT [NCIT:C7173]
synonym: "grade II astrocytoma" EXACT [NCIT:C7173]
synonym: "low-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C7173]
synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907]
synonym: "protoplasmic astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173]
xref: GARD:0005907 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C71.9 {source="Orphanet:251595", source="ORDO:251595/ntbt"}
xref: NCIT:C7173 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.35"}
xref: ONCOTREE:DASTR {source="MONDO:equivalentTo"}
xref: Orphanet:251595 {source="MONDO:equivalentTo"}
xref: UMLS:C0280785 {source="Orphanet:251595", source="ORDO:251595/e", source="MONDO:equivalentTo", source="NCIT:C7173"}
is_a: MONDO:0016685 {source="MONDO:Redundant", source="MONDOLEX:0016686", source="Orphanet:251595"} ! low-grade astrocytoma
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C7173"} ! grade II glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280785
property_value: exactMatch NCIT:C7173
property_value: exactMatch Orphanet:251595

[Term]
id: MONDO:0016687
name: protoplasmic astrocytoma
def: "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" [NCIT:C4320]
subset: ordo_histopathological_subtype {source="Orphanet:251598"}
synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320]
synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320]
synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008]
xref: DOID:7008 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251598/ntbt", source="Orphanet:251598"}
xref: ICDO:9410/3 {source="NCIT:C4320"}
xref: NCIT:C4320 {source="DOID:7008", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:251598 {source="MONDO:equivalentTo"}
xref: UMLS:C0334580 {source="NCIT:C4320", source="DOID:7008", source="MONDO:equivalentTo", source="ORDO:251598/e", source="Orphanet:251598"}
is_a: MONDO:0016686 {source="NCIT:C4320", source="Orphanet:251598"} ! diffuse astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/55094006
property_value: exactMatch DOID:7008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334580
property_value: exactMatch NCIT:C4320
property_value: exactMatch Orphanet:251598

[Term]
id: MONDO:0016688
name: fibrillary astrocytoma
def: "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" [NCIT:C4322]
subset: ordo_histopathological_subtype {source="Orphanet:251601"}
synonym: "diffuse astrocytoma" EXACT EXCLUDE [DOID:6726]
synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322]
synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322]
xref: DOID:6726 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251601/ntbt", source="Orphanet:251601"}
xref: ICDO:9420/3 {source="NCIT:C4322"}
xref: MedDRA:10065889 {source="Orphanet:251601", source="ORDO:251601/e"}
xref: NCIT:C4322 {source="MONDO:equivalentTo", source="DOID:6726"}
xref: Orphanet:251601 {source="MONDO:equivalentTo"}
xref: UMLS:C0334582 {source="MONDO:equivalentTo", source="NCIT:C4322", source="DOID:6726", source="Orphanet:251601", source="ORDO:251601/e"}
is_a: MONDO:0016686 {source="MONDOLEX:0016688", source="NCIT:C4322", source="Orphanet:251601"} ! diffuse astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/253063006
property_value: closeMatch http://identifiers.org/snomedct/71314006
property_value: exactMatch DOID:6726
property_value: exactMatch http://identifiers.org/meddra/10065889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334582
property_value: exactMatch NCIT:C4322
property_value: exactMatch Orphanet:251601

[Term]
id: MONDO:0016689
name: gemistocytic astrocytoma
def: "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" [NCIT:C4321]
subset: ordo_histopathological_subtype {source="Orphanet:251604"}
synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005, NCIT:C4321]
synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321]
synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005]
synonym: "Gemistocytoma" EXACT [NCIT:C4321]
xref: DOID:7005 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251604/ntbt", source="Orphanet:251604"}
xref: ICDO:9411/3 {source="NCIT:C4321"}
xref: NCIT:C4321 {source="DOID:7005", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:251604 {source="MONDO:equivalentTo"}
xref: UMLS:C0334581 {source="DOID:7005", source="MONDO:equivalentTo", source="NCIT:C4321", source="ORDO:251604/e", source="Orphanet:251604"}
is_a: MONDO:0016686 {source="NCIT:C4321", source="Orphanet:251604"} ! diffuse astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/73982001
property_value: exactMatch DOID:7005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334581
property_value: exactMatch NCIT:C4321
property_value: exactMatch Orphanet:251604

[Term]
id: MONDO:0016690
name: pleomorphic xanthoastrocytoma
def: "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." [NCIT:C4323]
subset: gard_rare {source="GARD:0010631"}
subset: ordo_disease {source="Orphanet:251607"}
synonym: "pleomorphic Xantho-astrocytoma" EXACT [DOID:4852, NCIT:C4323]
synonym: "PXA" EXACT [ONCOTREE:PXA, Orphanet:251607]
xref: DOID:4852 {source="MONDO:equivalentTo"}
xref: GARD:0010631 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="Orphanet:251607"}
xref: ICD10:C79.1 {source="ORDO:251607/ntbt"}
xref: ICDO:9424/3 {source="NCIT:C4323"}
xref: NCIT:C4323 {source="DOID:4852", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PXA {source="MONDO:equivalentTo"}
xref: Orphanet:251607 {source="MONDO:equivalentTo"}
xref: UMLS:C0334586 {source="Orphanet:251607", source="ORDO:251607/e", source="DOID:4852", source="MONDO:equivalentTo", source="NCIT:C4323"}
is_a: MONDO:0016685 {source="Orphanet:251607"} ! low-grade astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/189924002
property_value: closeMatch http://identifiers.org/snomedct/78838008
property_value: exactMatch DOID:4852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334586
property_value: exactMatch NCIT:C4323
property_value: exactMatch Orphanet:251607
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma xsd:anyURI {source="GARD:0010631"}

[Term]
id: MONDO:0016691
name: pilocytic astrocytoma
def: "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported." [Orphanet:251612]
subset: ordo_disease {source="Orphanet:251612"}
synonym: "astrocytoma, benign" EXACT [NCIT:C4047]
synonym: "astrocytoma, pilocytic, benign" EXACT [NCIT:C4047]
synonym: "grade I astrocytic neoplasm" EXACT [NCIT:C4047]
synonym: "grade I astrocytic tumor" EXACT [DOID:4851, NCIT:C4047]
synonym: "grade I astrocytoma" EXACT [NCIT:C4047]
synonym: "pilocytic astrocytoma" EXACT [NCIT:C4047]
synonym: "Piloid astrocytoma" EXACT [DOID:4851]
xref: DOID:4851 {source="MONDO:equivalentTo"}
xref: GARD:0009808 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C71.9 {source="Orphanet:251612"}
xref: ICD10:C79.1 {source="ORDO:251612/ntbt"}
xref: ICDO:9421/1 {source="NCIT:C4047"}
xref: NCIT:C4047 {source="DOID:4851", source="MONDO:equivalentTo"}
xref: ONCOTREE:PAST {source="MONDO:equivalentTo"}
xref: Orphanet:251612 {source="MONDO:equivalentTo"}
xref: SCTID:763865009 {source="MONDO:equivalentTo"}
xref: UMLS:C0334583 {source="DOID:4851", source="MONDO:equivalentTo", source="NCIT:C4047", source="Orphanet:251612", source="ORDO:251612/e"}
is_a: MONDO:0016685 {source="MONDO:Redundant", source="Orphanet:251612"} ! low-grade astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/128854008
property_value: closeMatch http://identifiers.org/snomedct/189915006
property_value: closeMatch http://identifiers.org/snomedct/253064000
property_value: closeMatch http://identifiers.org/snomedct/67859002
property_value: exactMatch DOID:4851
property_value: exactMatch http://identifiers.org/snomedct/763865009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334583
property_value: exactMatch NCIT:C4047
property_value: exactMatch Orphanet:251612

[Term]
id: MONDO:0016692
name: pilomyxoid astrocytoma
def: "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." [NCIT:C40315]
subset: ordo_histopathological_subtype {source="Orphanet:251615"}
synonym: "PMA" RELATED [ONCOTREE:PMA]
xref: DOID:4845 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251615/ntbt", source="Orphanet:251615"}
xref: ICDO:9425/3 {source="NCIT:C40315"}
xref: NCIT:C40315 {source="MONDO:equivalentTo", source="DOID:4845", source="exact-label-match"}
xref: ONCOTREE:PMA {source="MONDO:equivalentTo"}
xref: Orphanet:251615 {source="MONDO:equivalentTo"}
xref: UMLS:C1519086 {source="NCIT:C40315", source="MONDO:equivalentTo", source="DOID:4845", source="ORDO:251615/e", source="Orphanet:251615"}
is_a: MONDO:0016691 {source="Orphanet:251615", source="not supported by NCIT"} ! pilocytic astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/388600004
property_value: exactMatch DOID:4845
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519086
property_value: exactMatch NCIT:C40315
property_value: exactMatch Orphanet:251615

[Term]
id: MONDO:0016693
name: subependymal giant cell astrocytoma
def: "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" [NCIT:C3696]
subset: gard_rare {source="GARD:0010632"}
subset: ordo_disease {source="Orphanet:251618"}
synonym: "SEGA" EXACT [DOID:5077, NCIT:C3696, Orphanet:251618]
synonym: "subependymal giant cell astrocytic neoplasm" EXACT [NCIT:C3696]
synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696]
synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077]
xref: DOID:5077 {source="MONDO:equivalentTo"}
xref: GARD:0010632 {source="MONDO:equivalentTo"}
xref: ICD10:D43.2 {source="Orphanet:251618", source="ORDO:251618/ntbt"}
xref: ICDO:9384/1 {source="NCIT:C3696"}
xref: NCIT:C3696 {source="MONDO:equivalentTo", source="DOID:5077"}
xref: Orphanet:251618 {source="MONDO:equivalentTo"}
xref: SCTID:449799008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.80", source="DOID:5077"}
xref: UMLS:C0205768 {source="Orphanet:251618", source="ORDO:251618/e", source="MONDO:equivalentTo", source="NCIT:C3696", source="DOID:5077"}
is_a: MONDO:0007667 {source="DOID:5077"} ! subependymoma
is_a: MONDO:0016685 {source="Orphanet:251618"} ! low-grade astrocytoma
property_value: closeMatch http://identifiers.org/snomedct/1586004
property_value: exactMatch DOID:5077
property_value: exactMatch http://identifiers.org/snomedct/449799008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205768
property_value: exactMatch NCIT:C3696
property_value: exactMatch Orphanet:251618
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma xsd:anyURI {source="GARD:0010632"}

[Term]
id: MONDO:0016694
name: obsolete Pituicytoma
is_obsolete: true
replaced_by: MONDO:0006372

[Term]
id: MONDO:0016695
name: oligodendroglioma
def: "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" [NCIT:C3288]
subset: ordo_disease {source="Orphanet:251627"}
synonym: "oligodendroglial neoplasm" BROAD [DOID:3181]
synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960]
synonym: "oligodendroglioma" EXACT [NCIT:C3288]
synonym: "oligodendroglioma, NOS" RELATED EXCLUDE [NCIT:C3288]
synonym: "well differentiated oligodendroglial tumor" EXACT [NCIT:C3288]
synonym: "well differentiated oligodendroglioma" EXACT [NCIT:C3288]
synonym: "WHO grade II oligodendroglial neoplasm" EXACT [NCIT:C3288]
synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288]
xref: DOID:3181 {source="MONDO:equivalentTo"}
xref: GARD:0009953 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C71.9 {source="Orphanet:251627"}
xref: ICD10:C79.1 {source="ORDO:251627/ntbt"}
xref: ICDO:9450/3 {source="NCIT:C3288"}
xref: MedDRA:10030286 {source="Orphanet:251627", source="ORDO:251627/e"}
xref: MESH:D009837 {source="MONDO:equivalentTo", source="DOID:3181"}
xref: NCIT:C3288 {source="ONCOTREE:ODG", source="MONDO:equivalentTo"}
xref: ONCOTREE:ODG {source="MONDO:equivalentTo"}
xref: Orphanet:251627 {source="MONDO:equivalentTo"}
is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C3288", source="Orphanet:251627"} ! oligodendroglial tumor
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3288"} ! grade II glioma
intersection_of: MONDO:0018744 ! oligodendroglial tumor
intersection_of: has_modifier MONDO:0024492 ! tumor grade 2, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751396
property_value: exactMatch DOID:3181
property_value: exactMatch http://identifiers.org/meddra/10030286
property_value: exactMatch http://identifiers.org/mesh/D009837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028945
property_value: exactMatch NCIT:C3288
property_value: exactMatch Orphanet:251627

[Term]
id: MONDO:0016696
name: anaplastic oligodendroglioma
def: "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." [NCIT:C4326]
subset: gard_rare {source="GARD:0009472"}
subset: ordo_disease {source="Orphanet:251630"}
synonym: "anaplastic oligodendroglioma" EXACT [NCIT:C4326]
synonym: "malignant oligodendroglioma" EXACT [NCIT:C4326]
synonym: "oligodendroglioma, anaplastic, malignant" EXACT [NCIT:C4326]
synonym: "oligodendroglioma, malignant" EXACT [NCIT:C4326]
synonym: "undifferentiated oligodendroglioma" EXACT [NCIT:C4326]
synonym: "WHO grade III oligodendroglial neoplasm" EXACT [NCIT:C4326]
synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326]
xref: EFO:0002501 {source="MONDO:equivalentTo"}
xref: GARD:0009472 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="Orphanet:251630"}
xref: ICD10:C79.1 {source="ORDO:251630/ntbt"}
xref: ICDO:9451/3 {source="NCIT:C4326"}
xref: MedDRA:10026659 {source="Orphanet:251630", source="ORDO:251630/e"}
xref: NCIT:C4326 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.69/0.10"}
xref: ONCOTREE:AODG {source="MONDO:equivalentTo"}
xref: Orphanet:251630 {source="MONDO:equivalentTo"}
xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="Orphanet:251630", source="ORDO:251630/e", source="NCIT:C4326"}
is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C4326", source="Orphanet:251630"} ! oligodendroglial tumor
is_a: MONDO:0020633 ! anaplastic cancer
is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4326"} ! grade III glioma
property_value: exactMatch http://identifiers.org/meddra/10026659
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334590
property_value: exactMatch NCIT:C4326
property_value: exactMatch Orphanet:251630
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma xsd:anyURI {source="GARD:0009472"}

[Term]
id: MONDO:0016697
name: low grade ependymoma
subset: ordo_disease {source="Orphanet:251633"}
xref: ICD10:D43.2 {source="ORDO:251633/ntbt", source="Orphanet:251633"}
xref: Orphanet:251633 {source="MONDO:equivalentTo"}
xref: UMLS:CN201940 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016698 {source="MONDO:Redundant", source="MONDOLEX:0016697"} ! ependymoma
intersection_of: MONDO:0016698 ! ependymoma
intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201940
property_value: exactMatch Orphanet:251633

[Term]
id: MONDO:0016698
name: ependymoma
def: "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" [NCIT:C3017]
subset: ordo_histopathological_subtype {source="Orphanet:251636"}
synonym: "benign ependymoma" EXACT [DOID:4844, MONDO:0003161]
synonym: "clear cell ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "ependymoma" EXACT [NCIT:C3017]
synonym: "ependymoma, benign" EXACT [MONDO:patterns/benign]
synonym: "ependymoma, familial" RELATED [GARD:0006353]
synonym: "ependymoma, NOS" RELATED EXCLUDE [NCIT:C3017]
synonym: "epithelial ependymoma" EXACT [DOID:4844]
synonym: "papillary ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "tanycytic ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017]
synonym: "WHO grade II ependymal tumor" EXACT [DOID:4844, NCIT:C3017]
synonym: "WHO grade II ependymal tumor" NARROW [NCIT:C3017]
xref: DOID:4844 {source="MONDO:equivalentTo"}
xref: GARD:0006353 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D43.2 {source="Orphanet:251636", source="ORDO:251636/ntbt"}
xref: ICDO:9391/3 {source="NCIT:C3017"}
xref: MedDRA:10014967 {source="Orphanet:251636", source="ORDO:251636/e"}
xref: MESH:D004806 {source="DOID:4844", source="MONDO:equivalentTo"}
xref: NCIT:C3017 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo"}
xref: ONCOTREE:EPM {source="MONDO:equivalentTo"}
xref: Orphanet:251636 {source="MONDO:equivalentTo", source="UMLS:CN201941"}
xref: UMLS:C0014474 {source="ONCOTREE:EPM", subsetdef="DOID:4844", source="MONDO:equivalentTo", source="NCIT:C3017", source="Orphanet:251636", source="ORDO:251636/e"}
xref: UMLS:CN201941 {source="MONDO:equivalentTo"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636/inferred"} ! ependymal tumor
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3017"} ! grade II glioma
intersection_of: MONDO:0003266 {source="NCIT:C3017"} ! ependymal tumor
intersection_of: has_modifier MONDO:0024492 {source="NCIT:C3017"} ! tumor grade 2, general grading system
relationship: excluded_subClassOf MONDO:0000638 {source="DOID:4844", source="MONDO:Entailed", source="MONDO:Redundant"} ! benign glioma
relationship: excluded_subClassOf MONDO:0016697 {source="UMLS:CN201941"} ! low grade ependymoma
property_value: closeMatch http://identifiers.org/snomedct/189913004
property_value: closeMatch http://identifiers.org/snomedct/253066003
property_value: closeMatch http://identifiers.org/snomedct/443643007
property_value: closeMatch http://identifiers.org/snomedct/57706008
property_value: exactMatch DOID:4844
property_value: exactMatch http://identifiers.org/meddra/10014967
property_value: exactMatch http://identifiers.org/mesh/D004806
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201941
property_value: exactMatch NCIT:C3017
property_value: exactMatch Orphanet:251636

[Term]
id: MONDO:0016699
name: myxopapillary ependymoma
def: "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma (see this term) located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." [Orphanet:251643]
subset: gard_rare {source="GARD:0010633"}
subset: ordo_histopathological_subtype {source="Orphanet:251643"}
synonym: "ependymoma, benign" EXACT [NCIT:C3697]
synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697]
synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075]
xref: DOID:5075 {source="MONDO:equivalentTo"}
xref: GARD:0010633 {source="MONDO:equivalentTo"}
xref: ICD10:D43.2 {source="ORDO:251643/ntbt", source="Orphanet:251643"}
xref: ICDO:9394/1 {source="NCIT:C3697"}
xref: NCIT:C3697 {source="MONDO:equivalentTo", source="DOID:5075"}
xref: ONCOTREE:MPE {source="MONDO:equivalentTo"}
xref: Orphanet:251643 {source="MONDO:equivalentTo"}
xref: UMLS:C0205769 {source="MONDO:equivalentTo", source="NCIT:C3697", source="Orphanet:251643", source="ORDO:251643/e", source="DOID:5075"}
is_a: MONDO:0003266 {source="NCIT:C3697", source="ONCOTREE:MPE", source="Orphanet:251643/inferred"} ! ependymal tumor
property_value: closeMatch http://identifiers.org/snomedct/1623000
property_value: exactMatch DOID:5075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205769
property_value: exactMatch NCIT:C3697
property_value: exactMatch Orphanet:251643
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma xsd:anyURI {source="GARD:0010633"}

[Term]
id: MONDO:0016700
name: anaplastic ependymoma
def: "Anaplastic ependymoma is a rare, malignant type of ependymoma (see this term) that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking." [Orphanet:251646]
subset: gard_rare {source="GARD:0010634"}
subset: ordo_disease {source="Orphanet:251646"}
synonym: "anaplastic ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "anaplastic ependymal tumor" EXACT [NCIT:C4049]
synonym: "anaplastic ependymoma" EXACT [NCIT:C4049]
synonym: "ependymoma, anaplastic, malignant" EXACT [NCIT:C4049]
synonym: "high-grade ependymoma" EXACT [Orphanet:251646]
synonym: "malignant ependymoma" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymal tumor" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymoma" EXACT [NCIT:C4049]
synonym: "WHO grade III ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049]
xref: GARD:0010634 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251646/ntbt", source="Orphanet:251646"}
xref: ICDO:9392/3 {source="NCIT:C4049"}
xref: MedDRA:10014968 {source="ORDO:251646/e", source="Orphanet:251646"}
xref: NCIT:C4049 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.68/0.44"}
xref: ONCOTREE:APE {source="MONDO:equivalentTo"}
xref: Orphanet:251646 {source="MONDO:equivalentTo"}
xref: UMLS:C0280788 {source="MONDO:equivalentTo", source="NCIT:C4049", source="ORDO:251646/e", source="Orphanet:251646"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C4049", source="ONCOTREE:APE", source="Orphanet:251646"} ! ependymal tumor
is_a: MONDO:0020633 ! anaplastic cancer
is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4049"} ! grade III glioma
property_value: exactMatch http://identifiers.org/meddra/10014968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280788
property_value: exactMatch NCIT:C4049
property_value: exactMatch Orphanet:251646
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma xsd:anyURI {source="GARD:0010634"}

[Term]
id: MONDO:0016701
name: oligoastrocytic tumor
subset: ordo_group_of_disorders {source="Orphanet:251651"}
synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651]
xref: Orphanet:251651 {source="MONDO:equivalentTo"}
xref: UMLS:CN201945 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003268 {source="MONDO:cjm"} ! mixed glioma
is_a: MONDO:0005853 ! malignant mixed neoplasm
is_a: MONDO:0015917 {source="MONDO:Entailed", source="Orphanet:251651"} ! malignant glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201945
property_value: exactMatch Orphanet:251651

[Term]
id: MONDO:0016702
name: oligoastrocytoma
def: "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" [NCIT:C4050]
subset: gard_rare {source="GARD:0009769"}
subset: ordo_disease {source="Orphanet:251656"}
synonym: "glioma, mixed, benign" EXACT [NCIT:C4050]
synonym: "mixed astrocytic-oligodendroglial neoplasm" EXACT [NCIT:C4050]
synonym: "mixed astrocytic-oligodendroglial tumor" EXACT [NCIT:C4050]
synonym: "mixed astrocytoma-oligodendroglioma" EXACT [NCIT:C4050]
synonym: "mixed oligo-astrocytoma" EXACT [NCIT:C4050]
synonym: "mixed oligoastrocytoma" EXACT [Orphanet:251656]
synonym: "mixed oligodendroglioma-astrocytoma" EXACT [MONDO:0004395]
synonym: "MOA" EXACT [Orphanet:251656]
synonym: "oligoastrocytoma" EXACT [NCIT:C4050]
synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050]
xref: DOID:7912 {source="MONDO:equivalentTo"}
xref: EFO:0000630 {source="MONDO:equivalentTo"}
xref: GARD:0009769 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251656/ntbt", source="Orphanet:251656"}
xref: MedDRA:10027744 {source="Orphanet:251656", source="ORDO:251656/e"}
xref: NCIT:C4050 {source="MONDO:equivalentTo", source="DOID:7912", source="MONDO:kboom-pr-0.92/0.84/0.20"}
xref: ONCOTREE:OAST {source="MONDO:equivalentTo"}
xref: Orphanet:251656 {source="MONDO:equivalentTo"}
xref: SCTID:716647001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0280793 {source="MONDO:equivalentTo", source="DOID:7912", source="Orphanet:251656", source="ORDO:251656/e", source="NCIT:C4050"}
is_a: MONDO:0016701 {source="Orphanet:251656"} ! oligoastrocytic tumor
is_a: MONDO:0021639 {source="NCIT:C4050"} ! grade II glioma
property_value: closeMatch http://identifiers.org/snomedct/22217002
property_value: exactMatch DOID:7912
property_value: exactMatch http://identifiers.org/meddra/10027744
property_value: exactMatch http://identifiers.org/snomedct/716647001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280793
property_value: exactMatch NCIT:C4050
property_value: exactMatch Orphanet:251656
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma xsd:anyURI {source="GARD:0009769"}

[Term]
id: MONDO:0016703
name: anaplastic oligoastrocytoma
def: "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." [NCIT:C6959]
subset: gard_rare {source="GARD:0010637"}
subset: ordo_disease {source="Orphanet:251663"}
synonym: "aMOA" EXACT [Orphanet:251663]
synonym: "anaplastic mixed glioma" EXACT [NCIT:C6959]
synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959]
synonym: "AOAST" RELATED [ONCOTREE:AOAST]
synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959]
xref: EFO:0002500 {source="MONDO:equivalentTo"}
xref: GARD:0010637 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251663/ntbt", source="Orphanet:251663"}
xref: NCIT:C6959 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"}
xref: Orphanet:251663 {source="MONDO:equivalentTo"}
xref: UMLS:C0431108 {source="MONDO:equivalentTo", source="Orphanet:251663", source="ORDO:251663/e", source="NCIT:C6959"}
is_a: MONDO:0016702 ! oligoastrocytoma
is_a: MONDO:0020633 {source="NCIT:C6959"} ! anaplastic cancer
is_a: MONDO:0021640 {source="NCIT:C6959"} ! grade III glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431108
property_value: exactMatch NCIT:C6959
property_value: exactMatch Orphanet:251663
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma xsd:anyURI {source="GARD:0010637"}

[Term]
id: MONDO:0016704
name: glial tumor of neuroepithelial tissue with unknown origin
subset: ordo_group_of_disorders {source="Orphanet:251668"}
xref: Orphanet:251668 {source="MONDO:equivalentTo"}
xref: UMLS:CN201948 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021042 ! glioma
relationship: excluded_subClassOf MONDO:0015917 {source="Orphanet:251668"} ! malignant glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201948
property_value: exactMatch Orphanet:251668

[Term]
id: MONDO:0016705
name: angiocentric glioma
def: "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." [Orphanet:251671]
subset: ordo_disease {source="Orphanet:251671"}
synonym: "angiocentric glioma (WHO grade I)" EXACT [NCIT:C92552]
synonym: "angiocentric neuroepithelial tumor" EXACT [NCIT:C92552]
synonym: "ANGL" RELATED [ONCOTREE:ANGL]
synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552]
xref: ICD10:C71.9 {source="Orphanet:251671", source="ORDO:251671/ntbt"}
xref: ICDO:9431/1 {source="NCIT:C92552"}
xref: NCIT:C92552 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:ANGL {source="MONDO:equivalentTo"}
xref: Orphanet:251671 {source="MONDO:equivalentTo"}
xref: UMLS:C2363903 {source="ORDO:251671/e", source="Orphanet:251671", source="MONDO:equivalentTo", source="NCIT:C92552"}
is_a: MONDO:0016704 {source="Orphanet:251671"} ! glial tumor of neuroepithelial tissue with unknown origin
is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363903
property_value: exactMatch NCIT:C92552
property_value: exactMatch Orphanet:251671

[Term]
id: MONDO:0016706
name: chordoid glioma of the third ventricle
alt_id: MONDO:0002773
def: "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [NCIT:C5592]
subset: gard_rare {source="GARD:0010636"}
subset: ordo_disease {source="Orphanet:251674"}
synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592]
synonym: "chordoid glioma (morphologic abnormality)" EXACT [DOID:3774]
synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3773, NCIT:C6961]
synonym: "chordoid glioma of the 3rd ventricle" EXACT [NCIT:C5592]
synonym: "chordoid glioma of the third ventricle" EXACT [GARD:0010636]
synonym: "chordoid glioma of the third ventricle (WHO grade II)" EXACT [NCIT:C5592]
synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773]
synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location]
xref: DOID:3773 {source="MONDO:equivalentTo"}
xref: DOID:3774 {source="MONDO:equivalentTo"}
xref: GARD:0010636 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251674/ntbt", source="Orphanet:251674"}
xref: ICDO:9444/1 {source="NCIT:C5592"}
xref: NCIT:C5592 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: ONCOTREE:CHGL {source="MONDO:equivalentTo"}
xref: Orphanet:251674 {source="MONDO:equivalentTo"}
xref: SCTID:715900001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1322252 {source="NCIT:C5592", source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo"}
is_a: MONDO:0002682 {source="DOID:3773", source="MONDO:Redundant", source="NCIT:C5592"} ! cerebral ventricle cancer
is_a: MONDO:0002786 ! diencephalic cancer
is_a: MONDO:0005499 {source="DOID:3773", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0016704 {source="Orphanet:251674"} ! glial tumor of neuroepithelial tissue with unknown origin
is_a: MONDO:0021639 ! grade II glioma
relationship: excluded_subClassOf MONDO:0016706 {source="DOID:3773"} ! chordoid glioma of the third ventricle
property_value: closeMatch http://identifiers.org/snomedct/128789002
property_value: exactMatch DOID:3773
property_value: exactMatch DOID:3774
property_value: exactMatch http://identifiers.org/snomedct/715900001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1322252
property_value: exactMatch NCIT:C5592
property_value: exactMatch Orphanet:251674
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle xsd:anyURI {source="GARD:0010636"}

[Term]
id: MONDO:0016707
name: astroblastoma
def: "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." [Orphanet:251679]
subset: gard_rare {source="GARD:0010635"}
subset: ordo_disease {source="Orphanet:251679"}
synonym: "AstB" RELATED [ONCOTREE:ASTB]
synonym: "astroblastoma" EXACT [NCIT:C4324]
synonym: "astroblastoma (morphologic abnormality)" EXACT [DOID:7305]
synonym: "cerebral astroblastoma" RELATED [GARD:0010635]
xref: DOID:7305 {source="MONDO:equivalentTo"}
xref: GARD:0010635 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:251679/ntbt", source="Orphanet:251679"}
xref: ICDO:9430/3 {source="NCIT:C4324"}
xref: NCIT:C4324 {source="DOID:7305", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:ASTB {source="MONDO:equivalentTo"}
xref: Orphanet:251679 {source="MONDO:equivalentTo"}
xref: UMLS:C0334587 {source="DOID:7305", source="MONDO:equivalentTo", source="NCIT:C4324", source="ORDO:251679/e", source="Orphanet:251679"}
is_a: MONDO:0016704 {source="Orphanet:251679"} ! glial tumor of neuroepithelial tissue with unknown origin
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:7305"} ! astrocytoma (excluding glioblastoma)
property_value: closeMatch http://identifiers.org/snomedct/48952003
property_value: exactMatch DOID:7305
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334587
property_value: exactMatch NCIT:C4324
property_value: exactMatch Orphanet:251679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10635/astroblastoma xsd:anyURI {source="GARD:0010635"}

[Term]
id: MONDO:0016708
name: embryonal tumor of neuroepithelial tissue
subset: ordo_group_of_disorders {source="Orphanet:251852"}
xref: Orphanet:251852 {source="MONDO:equivalentTo"}
xref: UMLS:CN201955 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005564 ! embryonal neoplasm
is_a: MONDO:0021193 {source="Orphanet:251852"} ! neuroepithelial neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016679"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201955
property_value: exactMatch Orphanet:251852

[Term]
id: MONDO:0016709
name: anaplastic/large cell medulloblastoma
def: "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." [NCIT:C129436]
subset: ordo_histopathological_subtype {source="Orphanet:251855"}
synonym: "large cell/anaplastic medulloblastoma" EXACT [NCIT:C129436]
xref: ICD10:C71.6 {source="ORDO:251855/ntbt", source="Orphanet:251855"}
xref: NCIT:C129436 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:AMBL {source="MONDO:equivalentTo"}
xref: Orphanet:251855 {source="MONDO:equivalentTo"}
xref: UMLS:C4330531 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="NCIT:C129436", source="Orphanet:251855"} ! medulloblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330531
property_value: exactMatch NCIT:C129436
property_value: exactMatch Orphanet:251855

[Term]
id: MONDO:0016710
name: medulloblastoma with extensive nodularity
def: "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis." [Orphanet:251858]
subset: ordo_histopathological_subtype {source="Orphanet:251858"}
synonym: "cerebellar neuroblastoma" EXACT [NCIT:C5407]
synonym: "MBEN" EXACT [Orphanet:251858]
synonym: "medulloblastoma with extensive nodularity" EXACT [NCIT:C5407]
synonym: "medulloblastoma with extensive nodularity and advanced neuronal differentiation" EXACT [NCIT:C5407]
synonym: "nodular medulloblastoma" EXACT [NCIT:C5407]
xref: ICD10:C71.6 {source="ORDO:251858/ntbt", source="Orphanet:251858"}
xref: ICDO:9471/3 {source="NCIT:C5407"}
xref: NCIT:C5407 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MBEN {source="MONDO:equivalentTo"}
xref: Orphanet:251858 {source="MONDO:equivalentTo"}
xref: UMLS:C1334970 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5407"}
xref: UMLS:CN201957 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="NCIT:C5407", source="Orphanet:251858"} ! medulloblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201957
property_value: exactMatch NCIT:C5407
property_value: exactMatch Orphanet:251858

[Term]
id: MONDO:0016711
name: desmoplastic/nodular medulloblastoma
def: "Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." [Orphanet:251863]
subset: ordo_histopathological_subtype {source="Orphanet:251863"}
synonym: "Desmoplastic medulloblastoma" EXACT [NCIT:C4956]
synonym: "Desmoplastic nodular medulloblastoma" EXACT [NCIT:C4956]
synonym: "Desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956]
xref: ICD10:C71.6 {source="ORDO:251863/ntbt", source="Orphanet:251863"}
xref: ICDO:9471/3 {source="NCIT:C4956"}
xref: NCIT:C4956 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DMBL {source="MONDO:equivalentTo"}
xref: Orphanet:251863 {source="MONDO:equivalentTo"}
xref: UMLS:C0751291 {source="MONDO:equivalentTo", source="Orphanet:251863", source="ORDO:251863/e", source="NCIT:C4956"}
is_a: MONDO:0007959 {source="NCIT:C4956", source="Orphanet:251863"} ! medulloblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751291
property_value: exactMatch NCIT:C4956
property_value: exactMatch Orphanet:251863

[Term]
id: MONDO:0016712
name: classic medulloblastoma
def: "Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." [Orphanet:251867]
subset: ordo_histopathological_subtype {source="Orphanet:251867"}
synonym: "classic medulloblastoma" EXACT [NCIT:C54039]
xref: ICD10:C71.6 {source="Orphanet:251867", source="ORDO:251867/ntbt"}
xref: NCIT:C54039 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:251867 {source="MONDO:equivalentTo"}
xref: SCTID:699704002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1707400 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C54039"}
is_a: MONDO:0007959 {source="NCIT:C54039", source="Orphanet:251867", source="linkedlifedata"} ! medulloblastoma
property_value: exactMatch http://identifiers.org/snomedct/699704002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707400
property_value: exactMatch NCIT:C54039
property_value: exactMatch Orphanet:251867

[Term]
id: MONDO:0016713
name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." [NCIT:C129537]
comment: Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma
subset: ordo_group_of_disorders {source="Orphanet:251870"}
synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C129537]
synonym: "central nervous system PNET" EXACT [Orphanet:251870]
synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870]
synonym: "CNS PNET" RELATED [Orphanet:251870]
xref: MedDRA:10057846 {source="Orphanet:251870", source="ORDO:251870/e"}
xref: NCIT:C129537 {source="MONDO:equivalentTo"}
xref: Orphanet:251870 {source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="NCIT:C129537"} ! central nervous system cancer
is_a: MONDO:0016708 {source="Orphanet:251870"} ! embryonal tumor of neuroepithelial tissue
is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C129537"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206093
property_value: exactMatch http://identifiers.org/meddra/10057846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206663
property_value: exactMatch NCIT:C129537
property_value: exactMatch Orphanet:251870

[Term]
id: MONDO:0016714
name: obsolete ganglioneuroblastoma
is_obsolete: true
replaced_by: MONDO:0005035

[Term]
id: MONDO:0016715
name: ependymoblastoma
def: "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." [Orphanet:251880]
subset: ordo_disease {source="Orphanet:251880"}
synonym: "embryonal tumor with abundant neuropil and true Rosettes" EXACT [NCIT:C4915]
synonym: "embryonal tumor with abundant neuropil and true rosettes" RELATED [GARD:0006352]
synonym: "embryonal tumor with Multilayered Rosettes" EXACT [NCIT:C4915]
synonym: "embryonal tumor with Multilayered Rosettes with C19MC amplification" EXACT [NCIT:C4915]
synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C4915]
synonym: "ependymoblastoma" EXACT [NCIT:C4915]
synonym: "ETANTR" RELATED [GARD:0006352, ONCOTREE:ETANTR]
synonym: "ETMR" RELATED [GARD:0006352]
synonym: "ETMR, C19MC-altered" EXACT [NCIT:C4915]
synonym: "neuroectodermal tumors primitive" RELATED [GARD:0006352]
xref: DOID:4794 {source="MONDO:equivalentTo"}
xref: GARD:0006352 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="Orphanet:251880", source="ORDO:251880/ntbt"}
xref: MedDRA:10014966 {source="ORDO:251880/e", source="Orphanet:251880"}
xref: NCIT:C4915 {source="DOID:4794", source="MONDO:equivalentTo"}
xref: ONCOTREE:ETANTR {source="MONDO:equivalentTo"}
xref: Orphanet:251880 {source="MONDO:equivalentTo"}
xref: SCTID:715901002 {source="MONDO:kboom-pr-1.00/0.84/14.94", source="MONDO:equivalentTo"}
xref: UMLS:C0700367 {source="DOID:4794", source="NCIT:C4915", source="ORDO:251880/e", source="Orphanet:251880", source="MONDO:equivalentTo"}
is_a: MONDO:0000640 {source="DOID:4794"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0016713 {source="Orphanet:251880"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://identifiers.org/mesh/D018242
property_value: closeMatch http://identifiers.org/snomedct/21589007
property_value: closeMatch http://identifiers.org/snomedct/253070006
property_value: exactMatch DOID:4794
property_value: exactMatch http://identifiers.org/meddra/10014966
property_value: exactMatch http://identifiers.org/snomedct/715901002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700367
property_value: exactMatch NCIT:C4915
property_value: exactMatch Orphanet:251880

[Term]
id: MONDO:0016716
name: obsolete medulloepithelioma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0003144

[Term]
id: MONDO:0016717
name: choroid plexus neoplasm
alt_id: MONDO:0021226
def: "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma." [NCIT:C3473]
comment: Editor note: see ticket on ncit tracker
subset: ordo_group_of_disorders {source="Orphanet:251896"}
synonym: "choroid plexus neoplasm" EXACT [NCIT:C3473]
synonym: "choroid plexus tumor" EXACT [NCIT:C3473]
synonym: "neoplasm of choroid plexus" EXACT [NCIT:C3473]
synonym: "neoplasm of the choroid plexus" EXACT [NCIT:C3473]
synonym: "tumor of choroid plexus" EXACT [NCIT:C3473]
synonym: "tumor of the choroid plexus" EXACT [NCIT:C3473]
xref: NCIT:C3473 {source="DesignPattern", source="kboom:pr0.76-conf6.74", source="MONDO:equivalentTo"}
xref: ONCOTREE:CPT {source="MONDO:equivalentTo"}
xref: Orphanet:251896 {source="MONDO:equivalentTo"}
xref: SCTID:254942002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.97"}
xref: UMLS:C0085138 {source="NCIT:C3473", source="MONDO:equivalentTo", source="Orphanet:251896", source="ORDO:251896/e"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3473/inferred"} ! brain neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254942002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085138
property_value: exactMatch NCIT:C3473
property_value: exactMatch Orphanet:251896

[Term]
id: MONDO:0016718
name: choroid plexus carcinoma
def: "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" [NCIT:C4715]
subset: ordo_disease {source="Orphanet:251899"}
synonym: "anaplastic choroid plexus papilloma" EXACT [NCIT:C4715]
synonym: "cancer of choroid plexus" EXACT [DOID:5648, NCIT:C4715]
synonym: "cancer of the choroid plexus" EXACT [NCIT:C4715]
synonym: "carcinoma of choroid plexus" EXACT [NCIT:C4715]
synonym: "carcinoma of the choroid plexus" EXACT [NCIT:C4715]
synonym: "carcinoma, choroid plexus, malignant" EXACT [NCIT:C4715]
synonym: "choroid plexus cancer" EXACT [NCIT:C4715]
synonym: "choroid plexus carcinoma" EXACT [NCIT:C4715]
synonym: "choroid plexus carcinoma (morphologic abnormality)" EXACT [DOID:5648]
synonym: "malignant neoplasm of choroid plexus" EXACT [DOID:5648, MTHICD9_2006:191.5]
synonym: "malignant neoplasm of the choroid plexus" EXACT [DOID:5648, NCIT:C4533]
synonym: "malignant tumor of choroid plexus" RELATED [DOID:5648]
xref: DOID:5648 {source="MONDO:equivalentTo"}
xref: GARD:0008238 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C71.7 {source="ORDO:251899/ntbt", source="Orphanet:251899"}
xref: ICDO:9390/3 {source="NCIT:C4715"}
xref: MedDRA:10067478 {source="ORDO:251899/e", source="Orphanet:251899"}
xref: MESH:C562943 {source="MONDO:equivalentTo", source="DOID:5648"}
xref: NCIT:C4715 {source="MONDO:equivalentTo", source="DOID:5648"}
xref: ONCOTREE:CPC {source="MONDO:equivalentTo"}
xref: Orphanet:251899 {source="MONDO:equivalentTo"}
xref: SCTID:188292007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.76/0.97", source="DOID:5648"}
is_a: MONDO:0002681 {source="DOID:5648", source="MONDO:Redundant", source="MONDOLEX:0016718", source="NCIT:C4715"} ! choroid plexus cancer
is_a: MONDO:0004993 {source="DOID:5648", source="MESH:C562943", source="MONDO:Redundant", source="MONDOLEX:0016718", source="NCIT:C4715/inferred"} ! carcinoma
property_value: closeMatch http://identifiers.org/snomedct/88252006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346289
property_value: exactMatch DOID:5648
property_value: exactMatch http://identifiers.org/meddra/10067478
property_value: exactMatch http://identifiers.org/mesh/C562943
property_value: exactMatch http://identifiers.org/snomedct/188292007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431109
property_value: exactMatch NCIT:C4715
property_value: exactMatch Orphanet:251899

[Term]
id: MONDO:0016719
name: microcephaly-seizures-intellectual disability-heart disease syndrome
def: "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." [Orphanet:2519]
subset: ordo_malformation_syndrome {source="Orphanet:2519"}
synonym: "microcephaly seizures mental retardation heart disorders" RELATED [GARD:0003632]
synonym: "microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" RELATED [GARD:0003632]
xref: GARD:0003632 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2519", source="ORDO:2519/attributed", source="ORDO:2519/ntbt"}
xref: MESH:C537544 {source="MONDO:equivalentTo", source="Orphanet:2519", source="ORDO:2519/e"}
xref: Orphanet:2519 {source="MONDO:equivalentTo"}
xref: UMLS:C2931529 {source="MONDO:equivalentTo", source="Orphanet:2519", source="ORDO:2519/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2519", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537544
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931529
property_value: exactMatch Orphanet:2519

[Term]
id: MONDO:0016720
name: obsolete atypical papilloma of choroid plexus
is_obsolete: true
replaced_by: MONDO:0002684

[Term]
id: MONDO:0016721
name: pineal tumor of neuroepithelial tissue
subset: ordo_group_of_disorders {source="Orphanet:251905"}
xref: Orphanet:251905 {source="MONDO:equivalentTo"}
xref: UMLS:CN201969 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021193 {source="Orphanet:251905"} ! neuroepithelial neoplasm
is_a: MONDO:0021232 ! pineal body neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016679"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201969
property_value: exactMatch Orphanet:251905

[Term]
id: MONDO:0016722
name: pineoblastoma
def: "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." [Orphanet:251909]
subset: gard_rare {source="GARD:0009369"}
subset: ordo_disease {source="Orphanet:251909"}
synonym: "pineal gland PNET" EXACT [NCIT:C9344]
synonym: "pineal gland primitive neuroectodermal neoplasm" EXACT [NCIT:C9344]
synonym: "pineal gland primitive neuroectodermal tumor" EXACT [NCIT:C9344]
synonym: "pineal PNET" EXACT [DOID:1664, NCIT:C9344]
synonym: "pineal primitive neuroectodermal neoplasm" EXACT [NCIT:C9344]
synonym: "pineal primitive neuroectodermal tumor" EXACT [NCIT:C9344]
synonym: "pineoblastoma" EXACT [NCIT:C9344]
synonym: "pineoblastoma (WHO grade IV)" EXACT [NCIT:C9344]
synonym: "pineoblastoma, malignant" EXACT [NCIT:C9344]
synonym: "PNET of pineal gland" EXACT [NCIT:C9344]
synonym: "PNET of the pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal neoplasm of pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal neoplasm of the pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal tumor of pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal tumor of the pineal gland" EXACT [NCIT:C9344]
xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"}
xref: EFO:1000475 {source="MONDO:equivalentTo"}
xref: GARD:0009369 {source="MONDO:equivalentTo"}
xref: ICD10:C75.3 {source="ORDO:251909/ntbt", source="Orphanet:251909"}
xref: ICDO:9362/3 {source="NCIT:C9344"}
xref: MedDRA:10050487 {source="ORDO:251909/e", source="Orphanet:251909"}
xref: NCIT:C9344 {source="MONDO:equivalentTo", source="DOID:1664", source="EFO:1000475"}
xref: ONCOTREE:PBL {source="MONDO:equivalentTo"}
xref: Orphanet:251909 {source="MONDO:equivalentTo"}
xref: UMLS:C0205898 {source="NCIT:C9344", source="ORDO:251909/e", source="MONDO:equivalentTo", source="DOID:1664", source="Orphanet:251909"}
is_a: MONDO:0003249 {source="DOID:1664", source="NCIT:C9344"} ! pineal gland cancer
is_a: MONDO:0016708 ! embryonal tumor of neuroepithelial tissue
is_a: MONDO:0016721 {source="Orphanet:251909"} ! pineal tumor of neuroepithelial tissue
property_value: closeMatch http://identifiers.org/mesh/D010871
property_value: closeMatch http://identifiers.org/snomedct/31671006
property_value: exactMatch DOID:1664
property_value: exactMatch http://identifiers.org/meddra/10050487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205898
property_value: exactMatch NCIT:C9344
property_value: exactMatch Orphanet:251909
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma xsd:anyURI {source="GARD:0009369"}

[Term]
id: MONDO:0016723
name: pineocytoma (disease)
def: "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." [Orphanet:251912]
subset: ordo_disease {source="Orphanet:251912"}
synonym: "benign pinealoma" EXACT [NCIT:C6966]
synonym: "pinealocytoma" EXACT [NCIT:C6966]
synonym: "pineocytoma" EXACT [MONDO:ambiguous, NCIT:C6966]
synonym: "Pineocytoma (WHO grade I)" EXACT [NCIT:C6966]
synonym: "pineocytoma, benign" EXACT [NCIT:C6966]
xref: EFO:1000476 {source="MONDO:equivalentTo"}
xref: GARD:0008207 {source="MONDO:equivalentTo"}
xref: HP:0030407 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D44.5 {source="ORDO:251912/ntbt", source="Orphanet:251912"}
xref: ICDO:9361/1 {source="NCIT:C6966"}
xref: MedDRA:10035059 {source="ORDO:251912/e", source="Orphanet:251912"}
xref: NCIT:C6966 {source="EFO:1000476", source="MONDO:equivalentTo"}
xref: ONCOTREE:PINC {source="MONDO:equivalentTo"}
xref: Orphanet:251912 {source="MONDO:equivalentTo"}
xref: SCTID:255045009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0917890 {source="MONDO:equivalentTo", source="NCIT:C6966", source="ORDO:251912/e", source="Orphanet:251912"}
is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign endocrine neoplasm
is_a: MONDO:0016721 {source="Orphanet:251912"} ! pineal tumor of neuroepithelial tissue
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C6966/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of brain
is_a: MONDO:0024890 {source="NCIT:C6966"} ! pineal parenchymal cell neoplasm
property_value: exactMatch http://identifiers.org/meddra/10035059
property_value: exactMatch http://identifiers.org/snomedct/255045009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917890
property_value: exactMatch NCIT:C6966
property_value: exactMatch Orphanet:251912

[Term]
id: MONDO:0016724
name: papillary tumor of the pineal region
def: "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus." [Orphanet:251915]
subset: ordo_disease {source="Orphanet:251915"}
synonym: "PTPR" EXACT [ONCOTREE:PTPR, Orphanet:251915]
xref: EFO:1000451 {source="MONDO:equivalentTo"}
xref: ICD10:D44.5 {source="Orphanet:251915", source="ORDO:251915/ntbt"}
xref: ICDO:9395/3 {source="NCIT:C92624"}
xref: NCIT:C92624 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PTPR {source="MONDO:equivalentTo"}
xref: Orphanet:251915 {source="MONDO:equivalentTo"}
xref: UMLS:C2985219 {source="Orphanet:251915", source="ORDO:251915/e", source="NCIT:C92624", source="MONDO:equivalentTo"}
is_a: MONDO:0016721 {source="Orphanet:251915"} ! pineal tumor of neuroepithelial tissue
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2985219
property_value: exactMatch NCIT:C92624
property_value: exactMatch Orphanet:251915

[Term]
id: MONDO:0016725
name: pineal parenchymal tumor of intermediate differenciation
def: "Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity." [Orphanet:251919]
subset: ordo_disease {source="Orphanet:251919"}
xref: ICD10:D44.5 {source="Orphanet:251919", source="ORDO:251919/ntbt"}
xref: Orphanet:251919 {source="MONDO:equivalentTo"}
xref: UMLS:CN201973 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016721 {source="Orphanet:251919"} ! pineal tumor of neuroepithelial tissue
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201973
property_value: exactMatch Orphanet:251919

[Term]
id: MONDO:0016726
name: neuronal tumor
subset: ordo_group_of_disorders {source="Orphanet:251924"}
xref: Orphanet:251924 {source="MONDO:equivalentTo"}
xref: UMLS:CN201974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021193 {source="Orphanet:251924"} ! neuroepithelial neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016679"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201974
property_value: exactMatch Orphanet:251924

[Term]
id: MONDO:0016727
name: extraventricular neurocytoma
def: "Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior." [Orphanet:251927]
subset: ordo_disease {source="Orphanet:251927"}
synonym: "EVN" EXACT [ONCOTREE:EVN, Orphanet:251927]
synonym: "extraventricular neurocytoma (WHO grade II)" EXACT [NCIT:C92555]
xref: ICDO:9506/1 {source="NCIT:C92555"}
xref: NCIT:C92555 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:EVN {source="MONDO:equivalentTo"}
xref: Orphanet:251927 {source="MONDO:equivalentTo"}
xref: SCTID:716787002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2985175 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C92555", source="MONDO:equivalentTo"}
xref: UMLS:CN201975 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016726 {source="Orphanet:251927"} ! neuronal tumor
is_a: MONDO:0016729 {source="NCIT:C92555"} ! mixed neuronal-glial tumor
property_value: exactMatch http://identifiers.org/snomedct/716787002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2985175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201975
property_value: exactMatch NCIT:C92555
property_value: exactMatch Orphanet:251927

[Term]
id: MONDO:0016728
name: obsolete cerebellar liponeurocytoma
is_obsolete: true
replaced_by: MONDO:0006131

[Term]
id: MONDO:0016729
name: mixed neuronal-glial tumor
def: "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" [NCIT:C4747]
subset: ordo_group_of_disorders {source="Orphanet:251934"}
synonym: "neuronal and Glio-neuronal neoplasm" EXACT [NCIT:C4747]
synonym: "neuronal and Glio-neuronal tumor" EXACT [NCIT:C4747]
synonym: "neuronal and mixed neuronal-glial tumor" EXACT [NCIT:C4747]
synonym: "neuronal and mixed neuronal-glial tumors" EXACT [NCIT:C4747]
xref: NCIT:C4747 {source="MONDO:equivalentTo"}
xref: Orphanet:251934 {source="MONDO:equivalentTo"}
xref: UMLS:C0474844 {source="MONDO:equivalentTo", source="NCIT:C4747"}
xref: UMLS:CN201977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021193 {source="Orphanet:251934"} ! neuroepithelial neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016679"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474844
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201977
property_value: exactMatch NCIT:C4747
property_value: exactMatch Orphanet:251934

[Term]
id: MONDO:0016730
name: gangliocytoma
def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." [NCIT:C6934]
subset: gard_rare {source="GARD:0010638"}
subset: ordo_disease {source="Orphanet:251937"}
synonym: "GNC" RELATED [ONCOTREE:GNC]
xref: DOID:2426 {source="MONDO:equivalentTo"}
xref: GARD:0010638 {source="MONDO:equivalentTo"}
xref: ICD10:D36.1 {source="Orphanet:251937", source="ORDO:251937/ntbt"}
xref: ICDO:9492/0 {source="NCIT:C6934"}
xref: MESH:D005729 {source="MONDO:equivalentTo", source="DOID:2426"}
xref: NCIT:C6934 {source="MONDO:equivalentTo", source="DOID:2426", source="exact-label-match"}
xref: ONCOTREE:GNC {source="MONDO:equivalentTo"}
xref: Orphanet:251937 {source="MONDO:equivalentTo"}
xref: UMLS:CN201978 {source="MONDO:equivalentTo"}
is_a: MONDO:0016729 {source="NCIT:C6934", source="Orphanet:251937"} ! mixed neuronal-glial tumor
property_value: closeMatch http://identifiers.org/mesh/D018305
property_value: closeMatch http://identifiers.org/snomedct/128919000
property_value: closeMatch http://identifiers.org/snomedct/189929007
property_value: closeMatch http://identifiers.org/snomedct/53801007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL378224
property_value: exactMatch DOID:2426
property_value: exactMatch http://identifiers.org/mesh/D005729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201978
property_value: exactMatch NCIT:C6934
property_value: exactMatch Orphanet:251937
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma xsd:anyURI {source="GARD:0010638"}

[Term]
id: MONDO:0016731
name: desmoplastic infantile astrocytoma/ganglioglioma
def: "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." [Orphanet:251940]
subset: ordo_disease {source="Orphanet:251940"}
synonym: "DIA/DIG" EXACT [Orphanet:251940]
xref: Orphanet:251940 {source="MONDO:equivalentTo"}
xref: UMLS:CN201979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016729 {source="Orphanet:251940"} ! mixed neuronal-glial tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201979
property_value: exactMatch Orphanet:251940

[Term]
id: MONDO:0016732
name: obsolete dysembryoplastic neuroepithelial tumor
is_obsolete: true
replaced_by: MONDO:0005505

[Term]
id: MONDO:0016733
name: ganglioglioma
def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" [NCIT:C3788]
subset: gard_rare {source="GARD:0002430"}
subset: ordo_disease {source="Orphanet:251949"}
synonym: "adult ganglioglioma" EXACT [DOID:5078]
synonym: "childhood ganglioglioma" EXACT [DOID:5078]
synonym: "CNS ganglioglioma" EXACT [DOID:5078]
synonym: "ganglioglioma" EXACT [NCIT:C3788]
synonym: "mixed cell tumors containing both neural ganglionic cells and neural glial cell components" RELATED [GARD:0002430]
xref: DOID:5078 {source="MONDO:equivalentTo"}
xref: EFO:0003094 {source="MONDO:equivalentTo"}
xref: GARD:0002430 {source="MONDO:equivalentTo"}
xref: ICDO:9505/1 {source="NCIT:C3788"}
xref: MedDRA:10017701 {source="ORDO:251949/e", source="Orphanet:251949"}
xref: MESH:D018303 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5078"}
xref: NCIT:C3788 {source="MONDO:equivalentTo", source="DOID:5078"}
xref: ONCOTREE:GNG {source="MONDO:equivalentTo"}
xref: Orphanet:251949 {source="MONDO:equivalentTo"}
xref: SCTID:87191000119100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5078"}
xref: UMLS:C0206716 {source="ORDO:251949/e", source="Orphanet:251949", source="MONDO:equivalentTo", source="NCIT:C3788", source="DOID:5078"}
is_a: MONDO:0016729 {source="NCIT:C3788", source="Orphanet:251949"} ! mixed neuronal-glial tumor
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: closeMatch http://identifiers.org/snomedct/89880005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332202
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332969
property_value: closeMatch NCIT:C27362
property_value: closeMatch NCIT:C27363
property_value: exactMatch DOID:5078
property_value: exactMatch http://identifiers.org/meddra/10017701
property_value: exactMatch http://identifiers.org/mesh/D018303
property_value: exactMatch http://identifiers.org/snomedct/87191000119100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206716
property_value: exactMatch NCIT:C3788
property_value: exactMatch Orphanet:251949
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma xsd:anyURI {source="GARD:0002430"}

[Term]
id: MONDO:0016734
name: anaplastic ganglioglioma
def: "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)" [NCIT:P378]
subset: gard_rare {source="GARD:0010639"}
subset: ordo_disease {source="Orphanet:251957"}
synonym: "AGNG" RELATED [ONCOTREE:AGNG]
xref: GARD:0010639 {source="MONDO:equivalentTo"}
xref: ICDO:9505/3 {source="NCIT:C4717"}
xref: NCIT:C4717 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:AGNG {source="MONDO:equivalentTo"}
xref: Orphanet:251957 {source="MONDO:equivalentTo"}
xref: UMLS:C0431112 {source="NCIT:C4717", source="MONDO:equivalentTo", source="Orphanet:251957", source="ORDO:251957/e"}
is_a: MONDO:0016733 ! ganglioglioma
relationship: has_modifier MONDO:0024493 {source="NCIT:C4717"} ! tumor grade 3, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431112
property_value: exactMatch NCIT:C4717
property_value: exactMatch Orphanet:251957
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma xsd:anyURI {source="GARD:0010639"}

[Term]
id: MONDO:0016735
name: papillary glioneuronal tumor
def: "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." [NCIT:P378]
subset: ordo_disease {source="Orphanet:251962"}
synonym: "papillary glioneuronal tumor (WHO grade I)" EXACT [NCIT:C92554]
synonym: "PGNT" EXACT [ONCOTREE:PGNT, Orphanet:251962]
synonym: "pseudopapillary ganglioglioneurocytoma" EXACT [Orphanet:251962]
synonym: "pseudopapillary neurocytoma with glial differentiation" EXACT [Orphanet:251962]
xref: ICDO:9509/1 {source="NCIT:C92554"}
xref: NCIT:C92554 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PGNT {source="MONDO:equivalentTo"}
xref: Orphanet:251962 {source="MONDO:equivalentTo"}
xref: UMLS:C2985174 {source="NCIT:C92554", source="MONDO:equivalentTo", source="Orphanet:251962", source="ORDO:251962/e"}
is_a: MONDO:0016729 {source="NCIT:C92554", source="Orphanet:251962"} ! mixed neuronal-glial tumor
relationship: has_modifier MONDO:0024491 {source="NCIT:C92554"} ! tumor grade 1, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2985174
property_value: exactMatch NCIT:C92554
property_value: exactMatch Orphanet:251962

[Term]
id: MONDO:0016736
name: rosette-forming glioneuronal tumor of fourth ventricule
def: "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal." [NCIT:P378]
subset: ordo_disease {source="Orphanet:251975"}
synonym: "DNT of the cerebellum" EXACT [Orphanet:251975]
synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [Orphanet:251975]
synonym: "RGNT" EXACT [Orphanet:251975]
synonym: "rosette-forming glioneuronal tumor" EXACT [NCIT:C129431]
xref: NCIT:C129431 {source="MONDO:equivalentTo"}
xref: Orphanet:251975 {source="MONDO:equivalentTo"}
xref: UMLS:C4331262 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN201984 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016729 {source="NCIT:C129431", source="Orphanet:251975"} ! mixed neuronal-glial tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4331262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201984
property_value: exactMatch NCIT:C129431
property_value: exactMatch Orphanet:251975

[Term]
id: MONDO:0016737
name: obsolete ganglioneuroma
is_obsolete: true
replaced_by: MONDO:0005033

[Term]
id: MONDO:0016738
name: primary germ cell tumor of central nervous system
subset: ordo_group_of_disorders {source="Orphanet:251995"}
synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995]
xref: Orphanet:251995 {source="MONDO:equivalentTo"}
xref: UMLS:CN201986 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018201 {source="Orphanet:251995"} ! extragonadal germ cell tumor
is_a: MONDO:0021248 {source="Orphanet:251995"} ! nervous system neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201986
property_value: exactMatch Orphanet:251995

[Term]
id: MONDO:0016739
name: yolk sac tumor of central nervous system
def: "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" [NCIT:C7011]
subset: ordo_clinical_subtype {source="Orphanet:252006"}
synonym: "central nervous system yolk Sac tumor" EXACT [NCIT:C7011]
synonym: "CNS yolk Sac tumor" EXACT [NCIT:C7011]
synonym: "endodermal sinus tumor of central nervous system" EXACT [Orphanet:252006]
synonym: "endodermal sinus tumor of CNS" EXACT [Orphanet:252006]
synonym: "intracranial endodermal sinus tumor" EXACT [Orphanet:252006]
synonym: "intracranial yolk sac tumor" EXACT [Orphanet:252006]
synonym: "yolk Sac tumor of central nervous system" EXACT [NCIT:C7011]
synonym: "yolk Sac tumor of CNS" EXACT [NCIT:C7011]
synonym: "yolk sac tumor of CNS" EXACT [Orphanet:252006]
synonym: "yolk Sac tumor of the central nervous system" EXACT [NCIT:C7011]
synonym: "yolk Sac tumor of the CNS" EXACT [NCIT:C7011]
xref: NCIT:C7011 {source="kboom:pr0.83-conf11.09", source="MONDO:equivalentTo"}
xref: Orphanet:252006 {source="MONDO:equivalentTo"}
xref: UMLS:CN201987 {source="MONDO:equivalentTo"}
is_a: MONDO:0005744 {source="NCIT:C7011", source="Orphanet:252006"} ! yolk sac tumor
is_a: MONDO:0005872 ! nervous system cancer
is_a: MONDO:0016738 {source="Orphanet:252006"} ! primary germ cell tumor of central nervous system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1337040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201987
property_value: exactMatch NCIT:C7011
property_value: exactMatch Orphanet:252006

[Term]
id: MONDO:0016740
name: choriocarcinoma of the central nervous system
def: "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:252015"}
synonym: "central nervous system choriocarcinoma" EXACT [NCIT:C7012]
synonym: "central nervous system choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "choriocarcinoma of CNS" EXACT [NCIT:C7012]
synonym: "choriocarcinoma of the CNS" EXACT [NCIT:C7012]
xref: NCIT:C7012 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:252015 {source="MONDO:equivalentTo"}
xref: UMLS:C1332876 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7012", source="MONDO:equivalentTo"}
xref: UMLS:CN201988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C7012/inferred"} ! central nervous system cancer
is_a: MONDO:0003578 {source="NCIT:C7012"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005207 {source="MONDO:Redundant", source="NCIT:C7012", source="OWLReasoner:2017"} ! choriocarcinoma (disease)
is_a: MONDO:0016738 {source="Orphanet:252015"} ! primary germ cell tumor of central nervous system
is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201988
property_value: exactMatch NCIT:C7012
property_value: exactMatch Orphanet:252015

[Term]
id: MONDO:0016741
name: obsolete teratoma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0002718

[Term]
id: MONDO:0016742
name: mixed germ cell tumor of central nervous system
def: "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:252021"}
synonym: "central nervous system mixed germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C7016]
synonym: "CNS mixed germ cell tumor" EXACT [NCIT:C7016]
synonym: "mixed germ cell neoplasm of the central nervous system" EXACT [NCIT:C7016]
synonym: "mixed germ cell tumor of CNS" EXACT [NCIT:C7016, Orphanet:252021]
synonym: "mixed germ cell tumor of the central nervous system" EXACT [NCIT:C7016]
synonym: "mixed germ cell tumor of the CNS" EXACT [NCIT:C7016]
xref: NCIT:C7016 {source="MONDO:equivalentTo"}
xref: Orphanet:252021 {source="MONDO:equivalentTo"}
xref: UMLS:C1334785 {source="MONDO:equivalentTo", source="NCIT:C7016", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN201989 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000524 ! mixed extragonadal germ cell cancer
is_a: MONDO:0002714 ! central nervous system cancer
is_a: MONDO:0003000 ! central nervous system germ cell tumor
is_a: MONDO:0016738 {source="Orphanet:252021"} ! primary germ cell tumor of central nervous system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334785
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201989
property_value: exactMatch NCIT:C7016
property_value: exactMatch Orphanet:252021

[Term]
id: MONDO:0016743
name: tumor of meninges
def: "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." [NCIT:C3229]
subset: ordo_group_of_disorders {source="Orphanet:252025"}
synonym: "meningeal cluster neoplasm" EXACT []
synonym: "meningeal cluster neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster rare nervous system tumor" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "meningeal neoplasm" EXACT [NCIT:C3229]
synonym: "meningeal neoplasms" EXACT [NCIT:C3229]
synonym: "meningeal tumor" EXACT [NCIT:C3229]
synonym: "meninges neoplasm" EXACT [NCIT:C3229]
synonym: "meninges tumor" EXACT [NCIT:C3229]
synonym: "meningothelial tumor" RELATED [ONCOTREE:MNGT]
synonym: "neoplasm of meningeal cluster" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of meninges" EXACT [NCIT:C3229]
synonym: "neoplasm of the meninges" EXACT [NCIT:C3229]
synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of meninges" EXACT [NCIT:C3229]
synonym: "tumor of the meninges" EXACT [NCIT:C3229]
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10061282 {source="ORDO:252025/e", source="Orphanet:252025"}
xref: NCIT:C3229 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: ONCOTREE:MNGT {source="MONDO:equivalentTo"}
xref: Orphanet:252025 {source="MONDO:equivalentTo"}
xref: SCTID:126965008 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C0025284 {source="ORDO:252025/e", source="MONDO:equivalentTo", source="Orphanet:252025", source="NCIT:C3229"}
is_a: MONDO:0006130 ! central nervous system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020036"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10061282
property_value: exactMatch http://identifiers.org/snomedct/126965008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025284
property_value: exactMatch NCIT:C3229
property_value: exactMatch Orphanet:252025

[Term]
id: MONDO:0016744
name: primary melanocytic tumor of central nervous system
subset: ordo_group_of_disorders {source="Orphanet:252028"}
synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet:252028]
synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028]
synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028]
xref: Orphanet:252028 {source="MONDO:equivalentTo"}
xref: UMLS:CN201991 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016743 {source="Orphanet:252028"} ! tumor of meninges
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201991
property_value: exactMatch Orphanet:252028

[Term]
id: MONDO:0016745
name: diffuse leptomeningeal melanocytosis
def: "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis." [Orphanet:252031]
subset: ordo_disease {source="Orphanet:252031"}
synonym: "DLM" EXACT [Orphanet:252031]
synonym: "leptomeningeal melanomatosis" BROAD [Orphanet:252031]
xref: Orphanet:252031 {source="MONDO:equivalentTo"}
is_a: MONDO:0016744 {source="Orphanet:252031"} ! primary melanocytic tumor of central nervous system
property_value: exactMatch Orphanet:252031

[Term]
id: MONDO:0016746
name: meningeal melanocytoma
def: "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." [NCIT:P378]
subset: ordo_disease {source="Orphanet:252046"}
synonym: "leptomeningeal melanocytoma" EXACT [DOID:5900, NCIT:C4662]
synonym: "melanocytoma of meninges" EXACT [NCIT:C4662]
synonym: "melanocytoma of the meninges" EXACT [NCIT:C4662]
synonym: "meninges melanocytoma" EXACT [NCIT:C4662]
xref: DOID:5900 {source="MONDO:equivalentTo"}
xref: EFO:1000370 {source="MONDO:equivalentTo"}
xref: ICDO:8728/1 {source="NCIT:C4662"}
xref: NCIT:C4662 {source="DOID:5900", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:252046 {source="MONDO:equivalentTo"}
xref: SCTID:277527003 {source="DOID:5900", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1266113 {source="Orphanet:252046", source="ORDO:252046/e", source="DOID:5900", source="MONDO:equivalentTo", source="NCIT:C4662"}
is_a: MONDO:0003222 {source="DOID:5900", source="NCIT:C4662/inferred", source="linkedlifedata"} ! central nervous system melanocytic neoplasm
is_a: MONDO:0016744 {source="Orphanet:252046"} ! primary melanocytic tumor of central nervous system
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: closeMatch http://identifiers.org/snomedct/128730009
property_value: exactMatch DOID:5900
property_value: exactMatch http://identifiers.org/snomedct/277527003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266113
property_value: exactMatch NCIT:C4662
property_value: exactMatch Orphanet:252046

[Term]
id: MONDO:0016747
name: primary melanoma of the central nervous system
def: "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." [NCIT:C5505]
subset: gard_rare {source="GARD:0012016"}
subset: ordo_disease {source="Orphanet:252050"}
synonym: "Central nervous system melanoma" EXACT [NCIT:C5505]
synonym: "central nervous system melanoma" EXACT []
synonym: "central nervous system melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS melanoma" EXACT [NCIT:C5505]
synonym: "malignant melanoma of meninges" EXACT [Orphanet:252050]
synonym: "melanoma (disease) of central nervous system" EXACT []
synonym: "melanoma of central nervous system" EXACT [NCIT:C5505]
synonym: "melanoma of CNS" EXACT [NCIT:C5505]
synonym: "melanoma of the Central nervous system" EXACT [NCIT:C5505]
synonym: "melanoma of the CNS" EXACT [NCIT:C5505]
synonym: "primary CNS melanoma" RELATED [GARD:0012016]
synonym: "primary melanoma of the CNS" RELATED [GARD:0012016]
synonym: "primary meningeal melanoma" RELATED [GARD:0012016]
xref: GARD:0012016 {source="MONDO:equivalentTo"}
xref: NCIT:C5505 {source="ONCOTREE:PCNSM", source="MONDO:equivalentTo"}
xref: ONCOTREE:PCNSM {source="MONDO:equivalentTo"}
xref: Orphanet:252050 {source="MONDO:equivalentTo"}
xref: UMLS:C0349626 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN201994 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0003222 {source="MONDO:Redundant", source="NCIT:C5505"} ! central nervous system melanocytic neoplasm
is_a: MONDO:0006320 {source="NCIT:C5505"} ! non-cutaneous melanoma
is_a: MONDO:0016744 {source="Orphanet:252050"} ! primary melanocytic tumor of central nervous system
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021322 ! malignant tumor of meninges
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349626
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201994
property_value: exactMatch NCIT:C5505
property_value: exactMatch Orphanet:252050
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system xsd:anyURI {source="GARD:0012016"}

[Term]
id: MONDO:0016748
name: hemangioblastoma
def: "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." [Orphanet:252054]
subset: ordo_disease {source="Orphanet:252054"}
synonym: "angioblastoma" EXACT [NCIT:C3801]
synonym: "capillary hemangioblastoma" EXACT [DOID:5241, NCIT:C3801]
synonym: "hemangioblastoma" EXACT [NCIT:C3801]
synonym: "HMBL" RELATED [ONCOTREE:HMBL]
xref: DOID:5241 {source="MONDO:equivalentTo"}
xref: GARD:0008232 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D33.4 {source="MONDO:relatedTo", source="Orphanet:252054", source="ORDO:252054/btnt"}
xref: ICD10:D33.7 {source="Orphanet:252054", source="ORDO:252054/btnt"}
xref: ICDO:9161/1 {source="NCIT:C3801"}
xref: MedDRA:10018813 {source="ORDO:252054/e", source="Orphanet:252054"}
xref: MESH:D018325 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:5241"}
xref: NCIT:C3801 {source="MONDO:equivalentTo", source="DOID:5241", source="exact-label-match"}
xref: ONCOTREE:HMBL {source="MONDO:equivalentTo"}
xref: Orphanet:252054 {source="MONDO:equivalentTo"}
xref: UMLS:C0206734 {source="ORDO:252054/e", source="Orphanet:252054", source="MONDO:equivalentTo", source="DOID:5241", source="NCIT:C3801"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0002407 {source="DOID:5241", source="MESH:D018325"} ! capillary hemangioma
is_a: MONDO:0043218 ! neurovascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020036"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/81201000
property_value: exactMatch DOID:5241
property_value: exactMatch http://identifiers.org/meddra/10018813
property_value: exactMatch http://identifiers.org/mesh/D018325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206734
property_value: exactMatch NCIT:C3801
property_value: exactMatch Orphanet:252054

[Term]
id: MONDO:0016749
name: tumor of cranial and spinal nerves
subset: gard_rare {source="GARD:0012697"}
subset: ordo_group_of_disorders {source="Orphanet:252057"}
synonym: "rare tumor of cranial and spinal nerves" EXACT [Orphanet:252057]
xref: GARD:0012697 {source="MONDO:equivalentTo"}
xref: Orphanet:252057 {source="MONDO:equivalentTo"}
xref: UMLS:CN201996 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021248 {source="Orphanet:252057"} ! nervous system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020036"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN201996
property_value: exactMatch Orphanet:252057
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves xsd:anyURI {source="GARD:0012697"}

[Term]
id: MONDO:0016750
name: microcephaly-cleft palate syndrome
def: "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." [Orphanet:2521]
subset: ordo_malformation_syndrome {source="Orphanet:2521"}
synonym: "Halal syndrome" EXACT [Orphanet:2521]
synonym: "microcephaly cleft palate autosomal dominant" RELATED [GARD:0008623]
synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [Orphanet:2521]
xref: GARD:0008623 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2521", source="ORDO:2521/attributed", source="ORDO:2521/ntbt"}
xref: MESH:C535622 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2521 {source="MONDO:equivalentTo"}
xref: SCTID:719394002 {source="MONDO:kboom-pr-1.00/0.74/5.82", source="MONDO:equivalentTo"}
xref: UMLS:C2930954 {source="ORDO:2521/e", source="MEDGEN:kboom-pr97-c99", source="Orphanet:2521", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2521", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2521"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:2521"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C535622
property_value: exactMatch http://identifiers.org/snomedct/719394002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930954
property_value: exactMatch Orphanet:2521

[Term]
id: MONDO:0016751
name: malignant perineurioma
def: "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." [NCIT:C66845]
subset: ordo_disease {source="Orphanet:252128"}
synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845]
synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C66845]
synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant]
xref: ICDO:9571/3 {source="NCIT:C66845"}
xref: NCIT:C66845 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.85/2.55"}
xref: Orphanet:252128 {source="MONDO:equivalentTo"}
xref: SCTID:761958009 {source="MONDO:equivalentTo"}
xref: UMLS:C1266188 {source="MONDO:equivalentTo", source="ORDO:252128/e", source="Orphanet:252128", source="NCIT:C66845"}
is_a: MONDO:0019404 {source="MONDO:Redundant", source="Orphanet:252128"} ! perineurioma
is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C66845/inferred"} ! peripheral nervous system cancer
property_value: exactMatch http://identifiers.org/snomedct/761958009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266188
property_value: exactMatch NCIT:C66845
property_value: exactMatch Orphanet:252128

[Term]
id: MONDO:0016752
name: benign peripheral nerve sheath tumor
comment: Editor note: consider relationship to granular cell tumor
subset: ordo_group_of_disorders {source="Orphanet:252131"}
synonym: "BPNST" EXACT [Orphanet:252131]
xref: Orphanet:252131 {source="MONDO:equivalentTo"}
xref: UMLS:CN202000 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016749 {source="Orphanet:252131"} ! tumor of cranial and spinal nerves
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202000
property_value: exactMatch Orphanet:252131

[Term]
id: MONDO:0016753
name: obsolete benign schwannoma
is_obsolete: true
replaced_by: MONDO:0002546

[Term]
id: MONDO:0016754
name: vestibular schwannoma (disease)
def: "Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness." [Orphanet:252175]
subset: ordo_clinical_subtype {source="Orphanet:252175"}
synonym: "acoustic neurilemoma" EXACT [Orphanet:252175]
synonym: "acoustic neurinoma" EXACT [Orphanet:252175]
synonym: "acoustic neuroma" RELATED [Orphanet:252175]
synonym: "vestibular schwannoma" EXACT [MONDO:ambiguous]
xref: HP:0009588 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D33.3 {source="ORDO:252175/e", source="Orphanet:252175"}
xref: MedDRA:10000523 {source="ORDO:252175/e", source="Orphanet:252175"}
xref: Orphanet:252175 {source="MONDO:equivalentTo"}
is_a: MONDO:0002546 {source="Orphanet:252175"} ! schwannoma
property_value: exactMatch http://identifiers.org/meddra/10000523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027859
property_value: exactMatch Orphanet:252175

[Term]
id: MONDO:0016755
name: neurofibroma
def: "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." [NCIT:C3272]
subset: gard_rare {source="GARD:0007191"}
subset: ordo_disease {source="Orphanet:252183"}
synonym: "neurofibroma" EXACT [NCIT:C3272]
synonym: "neurofibroma (WHO grade I)" EXACT [NCIT:C3272]
synonym: "neurofibroma, benign" EXACT [NCIT:C3272]
synonym: "NFIB" RELATED [ONCOTREE:NFIB]
xref: DOID:962 {source="MONDO:equivalentTo"}
xref: EFO:0000622 {source="MONDO:equivalentTo"}
xref: GARD:0007191 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9540/0 {source="NCIT:C3272"}
xref: MedDRA:10029267 {source="Orphanet:252183", source="ORDO:252183/e"}
xref: MESH:D009455 {source="DOID:962", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3272 {source="DOID:962", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:NFIB {source="MONDO:equivalentTo"}
xref: Orphanet:252183 {source="MONDO:equivalentTo"}
xref: SCTID:404029005 {source="DOID:962", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0027830 {source="DOID:962", source="NCIT:C3272", source="MONDO:equivalentTo", source="Orphanet:252183", source="ORDO:252183/e"}
is_a: MONDO:0002547 {source="DOID:962", source="MESH:D009455", source="NCIT:C3272", source="ONCOTREE:NFIB"} ! nerve sheath neoplasm
is_a: MONDO:0016752 {source="Orphanet:252183"} ! benign peripheral nerve sheath tumor
property_value: closeMatch http://identifiers.org/snomedct/115242003
property_value: closeMatch http://identifiers.org/snomedct/134214003
property_value: closeMatch http://identifiers.org/snomedct/189947001
property_value: closeMatch http://identifiers.org/snomedct/89084002
property_value: exactMatch DOID:962
property_value: exactMatch http://identifiers.org/meddra/10029267
property_value: exactMatch http://identifiers.org/mesh/D009455
property_value: exactMatch http://identifiers.org/snomedct/404029005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027830
property_value: exactMatch NCIT:C3272
property_value: exactMatch Orphanet:252183
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7191/neurofibroma xsd:anyURI {source="GARD:0007191"}

[Term]
id: MONDO:0016756
name: inherited nervous system cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:252190"}
xref: Orphanet:252190 {source="MONDO:equivalentTo"}
xref: UMLS:CN202004 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:252190"} ! nervous system disorder
relationship: disease_has_feature MONDO:0005872 ! nervous system cancer
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202004
property_value: exactMatch Orphanet:252190

[Term]
id: MONDO:0016757
name: malignant triton tumor
def: "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation." [Orphanet:252212]
subset: ordo_clinical_subtype {source="Orphanet:252212"}
synonym: "malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [DOID:6707]
synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation" EXACT [Orphanet:252212]
synonym: "malignant Triton tumour" EXACT [DOID:6707]
synonym: "malignant tumor of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [DOID:6707]
synonym: "MPNST with rhabdomyosarcoma" EXACT [DOID:6707, NCIT:C4335]
synonym: "MPNST with rhabdomyosarcomatous differentiation" EXACT [Orphanet:252212]
synonym: "MTT" EXACT [Orphanet:252212]
xref: DOID:6707 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9561/3 {source="NCIT:C4335"}
xref: NCIT:C4335 {source="MONDO:equivalentTo", source="DOID:6707", source="exact-label-match"}
xref: Orphanet:252212 {source="MONDO:equivalentTo"}
xref: SCTID:404040002 {source="MONDO:equivalentTo", source="DOID:6707", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334616 {source="ORDO:252212/e", source="MONDO:equivalentTo", source="Orphanet:252212", source="NCIT:C4335", source="DOID:6707"}
is_a: MONDO:0017827 {source="DOID:6707", source="MONDOLEX:0016757", source="NCIT:C4335/inferred", source="Orphanet:252212", source="linkedlifedata"} ! malignant peripheral nerve sheath tumor
property_value: closeMatch http://identifiers.org/snomedct/189951004
property_value: closeMatch http://identifiers.org/snomedct/354002
property_value: exactMatch DOID:6707
property_value: exactMatch http://identifiers.org/snomedct/404040002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334616
property_value: exactMatch NCIT:C4335
property_value: exactMatch Orphanet:252212

[Term]
id: MONDO:0016758
name: microcephaly-brain defect-spasticity-hypernatremia syndrome
def: "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." [Orphanet:2523]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2523"}
synonym: "Franek-Bocker-Kahlen syndrome" EXACT [GARD:0003607, Orphanet:2523]
synonym: "microcephaly - brain defect - spasticity - hypernatremia" RELATED [GARD:0003607]
synonym: "microcephaly brain defect spasticity hypernatremia" RELATED [GARD:0003607]
xref: GARD:0003607 {source="MONDO:equivalentTo"}
xref: ICD10:G98 {source="ORDO:2523/attributed", source="ORDO:2523/ntbt", source="Orphanet:2523"}
xref: Orphanet:2523 {source="MONDO:equivalentTo", source="GARD:0003607"}
xref: UMLS:CN202009 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017119 {source="Orphanet:2523"} ! syndrome with microcephaly as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202009
property_value: exactMatch Orphanet:2523
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia xsd:anyURI {source="GARD:0003607"}

[Term]
id: MONDO:0016759
name: pontocerebellar hypoplasia type 2
def: "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." [Orphanet:2524]
subset: gard_rare {source="GARD:0010705"}
subset: ordo_malformation_syndrome {source="Orphanet:2524"}
synonym: "PCH2" EXACT [Orphanet:2524]
synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy" RELATED [GARD:0010705]
xref: GARD:0010705 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="ORDO:2524/attributed", source="ORDO:2524/ntbt", source="Orphanet:2524"}
xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="ORDO:2524/e", source="MONDO:ontobio"}
xref: NCIT:C124057 {source="MONDO:kboom-pr-0.95/0.79/1.82", source="MONDO:equivalentTo"}
xref: Orphanet:2524 {source="MONDO:equivalentTo"}
xref: SCTID:715463008 {source="MONDO:kboom-pr-1.00/0.79/8.20", source="MONDO:equivalentTo"}
xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="NCIT:C124057", source="Orphanet:2524", source="ORDO:2524/e"}
is_a: MONDO:0016131 {source="Orphanet:2524"} ! spinal muscular atrophy associated with central nervous system anomaly
is_a: MONDO:0020135 {source="Orphanet:2524", source="linkedlifedata"} ! pontocerebellar hypoplasia
property_value: exactMatch http://identifiers.org/mesh/C548070
property_value: exactMatch http://identifiers.org/snomedct/715463008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932714
property_value: exactMatch NCIT:C124057
property_value: exactMatch Orphanet:2524
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 xsd:anyURI {source="GARD:0010705"}

[Term]
id: MONDO:0016760
name: microcephaly-microcornea syndrome, Seemanova type
def: "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." [Orphanet:2528]
subset: gard_rare {source="GARD:0003627"}
subset: ordo_malformation_syndrome {source="Orphanet:2528"}
synonym: "microcephaly microcornea syndrome Seemanova type" RELATED [GARD:0003627]
synonym: "Seemanova Lesny syndrome" RELATED [GARD:0003627]
synonym: "Seemanova-Lesny syndrome" EXACT [Orphanet:2528]
synonym: "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation" RELATED [GARD:0003627]
xref: GARD:0003627 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2528/attributed", source="ORDO:2528/ntbt", source="Orphanet:2528"}
xref: MESH:C537539 {source="MONDO:equivalentTo", source="Orphanet:2528", source="ORDO:2528/e"}
xref: Orphanet:2528 {source="MONDO:equivalentTo"}
xref: SCTID:715464002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.78"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2528", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2528"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="MONDO:Redundant", source="OWLReasoner:2017"} ! syndromic developmental defect of the eye
is_a: MONDO:0017119 {source="Orphanet:2528"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537536
property_value: exactMatch http://identifiers.org/mesh/C537539
property_value: exactMatch http://identifiers.org/snomedct/715464002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931524
property_value: exactMatch Orphanet:2528
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type xsd:anyURI {source="GARD:0003627"}

[Term]
id: MONDO:0016761
name: spondyloepiphyseal dysplasia
def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." [DOID:0080027, http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252]
subset: ordo_group_of_disorders {source="Orphanet:253"}
synonym: "SED and SEMD" EXACT [Orphanet:253]
synonym: "spondylo-epi-(meta)-physeal dysplasia" EXACT [Orphanet:253]
synonym: "spondylo-epi-(meta)-physeal dysplasia" EXACT [PMID:31633310]
synonym: "spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia" EXACT [Orphanet:253]
xref: DOID:0080027 {source="MONDO:equivalentTo"}
xref: GARD:0007687 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.7 {source="ORDO:253/e", source="ORDO:253/specific", source="Orphanet:253"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062920 {source="ORDO:253/e", source="Orphanet:253"}
xref: Orphanet:252 {source="MONDO:equivalentTo"}
xref: Orphanet:253 {source="MONDO:equivalentTo"}
xref: SCTID:254062008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0080027"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:253"} ! primary bone dysplasia
property_value: exactMatch DOID:0080027
property_value: exactMatch http://identifiers.org/meddra/10062920
property_value: exactMatch http://identifiers.org/snomedct/254062008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038015
property_value: exactMatch Orphanet:252
property_value: exactMatch Orphanet:253

[Term]
id: MONDO:0016762
name: microcornea-corectopia-macular hypoplasia syndrome
def: "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." [Orphanet:2535]
subset: ordo_malformation_syndrome {source="Orphanet:2535"}
synonym: "microcornea corectopia macular hypoplasia" RELATED [GARD:0003636]
xref: GARD:0003636 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q15.8 {source="ORDO:2535/attributed", source="ORDO:2535/ntbt", source="Orphanet:2535"}
xref: MESH:C537551 {source="MONDO:equivalentTo", source="Orphanet:2535", source="ORDO:2535/e"}
xref: Orphanet:2535 {source="MONDO:equivalentTo"}
xref: UMLS:C2931531 {source="MONDO:equivalentTo", source="Orphanet:2535", source="ORDO:2535/e"}
is_a: MONDO:0015218 {source="Orphanet:2535"} ! syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C537551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931531
property_value: exactMatch Orphanet:2535

[Term]
id: MONDO:0016763
name: spondylometaphyseal dysplasia
def: "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." [Orphanet:254]
subset: ordo_group_of_disorders {source="Orphanet:254"}
xref: DC:0000598 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:254/attributed", source="ORDO:254/ntbt", source="Orphanet:254"}
xref: Orphanet:254 {source="MONDO:equivalentTo"}
is_a: MONDO:0009943 {source="DC:0000598"} ! Pyle disease
property_value: exactMatch Orphanet:254

[Term]
id: MONDO:0016764
name: isolated anophthalmia-microphthalmia syndrome
def: "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." [Orphanet:2542]
subset: ordo_group_of_disorders {source="Orphanet:2542"}
synonym: "clinical anophthalmia" RELATED [GARD:0012085]
synonym: "isolated anophthalmia - microphthalmia" RELATED [GARD:0012085]
synonym: "isolated pure microphthalmia" RELATED [GARD:0012085]
synonym: "MAC spectrum" EXACT [Orphanet:2542]
synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [Orphanet:2542]
synonym: "nonsyndromic anophthalmia-microphthalmia syndrome" EXACT [MONDO:patterns/isolated]
synonym: "primitive anophthalmia" RELATED [GARD:0012085]
xref: GARD:0012085 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q11.0 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"}
xref: ICD10:Q11.1 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"}
xref: ICD10:Q11.2 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"}
xref: Orphanet:2542 {source="MONDO:equivalentTo"}
xref: UMLS:CN202019 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015217 {source="MONDO:Redundant", source="Orphanet:2542"} ! non-syndromic developmental defect of the eye
is_a: MONDO:0020147 {source="MONDO:Redundant", source="Orphanet:2542"} ! anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0020147 ! anophthalmia-microphthalmia syndrome
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:2542"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202019
property_value: exactMatch Orphanet:2542

[Term]
id: MONDO:0016765
name: 19p13.12 microdeletion syndrome
def: "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." [Orphanet:254346]
subset: gard_rare {source="GARD:0010991"}
subset: ordo_malformation_syndrome {source="Orphanet:254346"}
synonym: "Chromosome19p13.12 microdeletion" RELATED [GARD:0010991]
synonym: "Del(19)(p13.12)" EXACT [Orphanet:254346]
synonym: "monosomy 19p13.12" EXACT [Orphanet:254346]
xref: GARD:0010991 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:254346/attributed", source="ORDO:254346/ntbt", source="Orphanet:254346"}
xref: Orphanet:254346 {source="MONDO:equivalentTo"}
xref: SCTID:719597005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304579 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202023 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016897 {source="Orphanet:254346"} ! partial deletion of the short arm of chromosome 19
property_value: exactMatch http://identifiers.org/snomedct/719597005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304579
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202023
property_value: exactMatch Orphanet:254346
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome xsd:anyURI {source="GARD:0010991"}

[Term]
id: MONDO:0016766
name: obsolete rare lichen planus
def: "Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms)." [Orphanet:254367]
subset: gard_rare {source="GARD:0012344"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:254367"}
synonym: "rare lichen planus" EXACT [MONDO:patterns/rare]
synonym: "rare LP" EXACT [Orphanet:254367]
xref: GARD:0012344 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254367 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:254367
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus xsd:anyURI {source="GARD:0012344"}
is_obsolete: true
replaced_by: MONDO:0006572
consider: ICD10:L43.0 {source="Orphanet:254367", source="ORDO:254367/btnt"}
consider: ICD10:L43.1 {source="Orphanet:254367", source="ORDO:254367/btnt", source="MONDO:superClassOf"}
consider: ICD10:L43.2 {source="Orphanet:254367", source="ORDO:254367/btnt"}
consider: ICD10:L43.3 {source="Orphanet:254367", source="ORDO:254367/btnt"}
consider: ICD10:L43.8 {source="Orphanet:254367", source="ORDO:254367/btnt"}
consider: ICD10:L43.9 {source="Orphanet:254367", source="ORDO:254367/btnt"}
consider: ICD10:L66.1 {source="Orphanet:254367", source="ORDO:254367/btnt", source="MONDO:superClassOf"}
consider: UMLS:C0023646 {source="MONDO:subClassOf", source="Orphanet:254367"}

[Term]
id: MONDO:0016767
name: cutaneous lichen planus
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:254370"}
synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [] {source="Orphanet:254370"}
synonym: "rare cutaneous LP" EXACT [Orphanet:254370]
xref: ICD10:L43.0 {source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L43.1 {source="MONDO:superClassOf", source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L43.2 {source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L43.3 {source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L43.8 {source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L43.9 {source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: ICD10:L66.1 {source="MONDO:superClassOf", source="Orphanet:254370", source="ORDO:254370/ntbt"}
xref: Orphanet:254370 {source="MONDO:equivalentTo"}
xref: UMLS:CN226995 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006572 {source="Orphanet:254370"} ! lichen planus
relationship: has_modifier MONDO:0021136 {source="MONDO:0016766"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226995
property_value: exactMatch Orphanet:254370
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016768
name: rare mucosal lichen planus
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:254373"}
synonym: "rare mucosal LP" EXACT [Orphanet:254373]
xref: ICD10:L43.0 {source="Orphanet:254373", source="ORDO:254373/ntbt"}
xref: ICD10:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="ORDO:254373/ntbt"}
xref: ICD10:L43.2 {source="Orphanet:254373", source="ORDO:254373/ntbt"}
xref: ICD10:L43.3 {source="Orphanet:254373", source="ORDO:254373/ntbt"}
xref: ICD10:L43.8 {source="Orphanet:254373", source="ORDO:254373/ntbt"}
xref: ICD10:L43.9 {source="Orphanet:254373", source="ORDO:254373/ntbt"}
xref: Orphanet:254373 {source="MONDO:equivalentTo"}
xref: UMLS:CN226996 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006572 {source="Orphanet:254373"} ! lichen planus
relationship: has_modifier MONDO:0021136 {source="MONDO:0016766"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226996
property_value: exactMatch Orphanet:254373
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0016769
name: linear lichen planus
def: "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." [Orphanet:254379]
subset: gard_rare {source="GARD:0011898"}
subset: ordo_disease {source="Orphanet:254379"}
synonym: "Blaschkoid lichen planus" EXACT [Orphanet:254379]
synonym: "Blaschkoid LP" EXACT [Orphanet:254379]
synonym: "linear LP" EXACT [Orphanet:254379]
synonym: "llp" RELATED [GARD:0011898]
xref: GARD:0011898 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="ORDO:254379/ntbt", source="Orphanet:254379"}
xref: Orphanet:254379 {source="MONDO:equivalentTo"}
xref: SCTID:44509000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023650 {source="ORDO:254379/e", source="MONDO:equivalentTo", source="Orphanet:254379"}
is_a: MONDO:0016767 {source="Orphanet:254379"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/44509000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023650
property_value: exactMatch Orphanet:254379
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus xsd:anyURI {source="GARD:0011898"}

[Term]
id: MONDO:0016770
name: actinic lichen planus
def: "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of photo-distributed lichenoid lesions." [Orphanet:254395]
subset: gard_rare {source="GARD:0012673"}
subset: ordo_disease {source="Orphanet:254395"}
synonym: "actinic LP" EXACT [Orphanet:254395]
synonym: "lichen planus actinus" EXACT [Orphanet:254395]
synonym: "lichen planus subtropicus" EXACT [Orphanet:254395]
synonym: "lichen planus tropicus" EXACT [Orphanet:254395]
synonym: "lichenoid melanodermatitis" EXACT [Orphanet:254395]
synonym: "summertime actinic lichenoid eruption" EXACT [Orphanet:254395]
xref: GARD:0012673 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="Orphanet:254395", source="ORDO:254395/ntbt"}
xref: Orphanet:254395 {source="MONDO:equivalentTo"}
xref: SCTID:200999007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0406365 {source="Orphanet:254395", source="MONDO:equivalentTo", source="ORDO:254395/e"}
is_a: MONDO:0016767 {source="Orphanet:254395"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/200999007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406365
property_value: exactMatch Orphanet:254395
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus xsd:anyURI {source="GARD:0012673"}

[Term]
id: MONDO:0016771
name: annular atrophic lichen planus
def: "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by both annular and atrophic LP (see these terms) features in the same lesion." [Orphanet:254411]
subset: gard_rare {source="GARD:0012676"}
subset: ordo_disease {source="Orphanet:254411"}
synonym: "annular atrophic LP" EXACT [Orphanet:254411]
xref: GARD:0012676 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="Orphanet:254411", source="ORDO:254411/ntbt"}
xref: Orphanet:254411 {source="MONDO:equivalentTo"}
xref: SCTID:720493003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4304037 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016767 {source="Orphanet:254411"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/720493003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304037
property_value: exactMatch Orphanet:254411
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus xsd:anyURI {source="GARD:0012676"}

[Term]
id: MONDO:0016772
name: annular lichen planus
def: "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of annular lesions." [Orphanet:254424]
subset: gard_rare {source="GARD:0012674"}
subset: ordo_disease {source="Orphanet:254424"}
synonym: "annular LP" EXACT [Orphanet:254424]
xref: GARD:0012674 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="ORDO:254424/ntbt", source="Orphanet:254424"}
xref: Orphanet:254424 {source="MONDO:equivalentTo"}
xref: SCTID:201000006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0406363 {source="MONDO:equivalentTo", source="Orphanet:254424", source="ORDO:254424/e"}
is_a: MONDO:0016767 {source="Orphanet:254424"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/201000006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406363
property_value: exactMatch Orphanet:254424
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus xsd:anyURI {source="GARD:0012674"}

[Term]
id: MONDO:0016773
name: atrophic lichen planus
def: "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of pale papules or plaques with an atrophic center." [Orphanet:254449]
subset: gard_rare {source="GARD:0012675"}
subset: ordo_disease {source="Orphanet:254449"}
synonym: "atrophic LP" EXACT [Orphanet:254449]
xref: GARD:0012675 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="ORDO:254449/ntbt", source="Orphanet:254449"}
xref: MedDRA:10056959 {source="ORDO:254449/e", source="Orphanet:254449"}
xref: NCIT:C34777 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:254449 {source="MONDO:equivalentTo"}
xref: SCTID:25858008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0023647 {source="MONDO:equivalentTo", source="ORDO:254449/e", source="Orphanet:254449", source="NCIT:C34777"}
is_a: MONDO:0016767 {source="Orphanet:254449"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/meddra/10056959
property_value: exactMatch http://identifiers.org/snomedct/25858008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023647
property_value: exactMatch NCIT:C34777
property_value: exactMatch Orphanet:254449
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus xsd:anyURI {source="GARD:0012675"}

[Term]
id: MONDO:0016774
name: lichen planus pigmentosus
def: "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." [Orphanet:254463]
subset: gard_rare {source="GARD:0010816"}
subset: ordo_disease {source="Orphanet:254463"}
synonym: "lichen planus pigmentosa" EXACT [Orphanet:254463]
synonym: "lichen planus pigmentosus inversus" EXACT [Orphanet:254463]
synonym: "LP pigmentosa" EXACT [Orphanet:254463]
synonym: "LP pigmentosus" EXACT [Orphanet:254463]
xref: GARD:0010816 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="Orphanet:254463", source="ORDO:254463/ntbt"}
xref: Orphanet:254463 {source="MONDO:equivalentTo"}
xref: SCTID:717061002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406366 {source="ORDO:254463/e", source="Orphanet:254463", source="MONDO:equivalentTo"}
is_a: MONDO:0016767 {source="Orphanet:254463"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/717061002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406366
property_value: exactMatch Orphanet:254463
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus xsd:anyURI {source="GARD:0010816"}

[Term]
id: MONDO:0016775
name: lichen planus pemphigoides
def: "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms)." [Orphanet:254478]
subset: gard_rare {source="GARD:0012677"}
subset: ordo_disease {source="Orphanet:254478"}
synonym: "LP pemphigoides" EXACT [Orphanet:254478]
xref: GARD:0012677 {source="MONDO:equivalentTo"}
xref: ICD10:L43.8 {source="ORDO:254478/ntbt", source="Orphanet:254478"}
xref: Orphanet:254478 {source="MONDO:equivalentTo"}
xref: SCTID:238653005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406369 {source="ORDO:254478/e", source="MONDO:equivalentTo", source="Orphanet:254478"}
is_a: MONDO:0016767 {source="Orphanet:254478"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/238653005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406369
property_value: exactMatch Orphanet:254478
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides xsd:anyURI {source="GARD:0012677"}

[Term]
id: MONDO:0016776
name: frontal fibrosing alopecia
def: "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." [Orphanet:254492]
subset: gard_rare {source="GARD:0010886"}
subset: ordo_disease {source="Orphanet:254492"}
synonym: "FFA" EXACT [Orphanet:254492]
xref: GARD:0010886 {source="MONDO:equivalentTo"}
xref: ICD10:L66.1 {source="MONDO:directSiblingOf", source="ORDO:254492/ntbt", source="Orphanet:254492"}
xref: Orphanet:254492 {source="MONDO:equivalentTo"}
xref: SCTID:717055000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4255374 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:254492", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia
is_a: MONDO:0016767 {source="Orphanet:254492"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/717055000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4255374
property_value: exactMatch Orphanet:254492
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia xsd:anyURI {source="GARD:0010886"}

[Term]
id: MONDO:0016777
name: inhalational botulism
def: "Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." [Orphanet:254504]
subset: ordo_clinical_subtype {source="Orphanet:254504"}
synonym: "inhalation botulism" EXACT [Orphanet:254504]
xref: ICD10:A05.1 {source="ORDO:254504/ntbt", source="Orphanet:254504"}
xref: Orphanet:254504 {source="MONDO:equivalentTo"}
xref: SCTID:409562009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1443900 {source="MONDO:equivalentTo", source="ORDO:254504/e", source="Orphanet:254504"}
is_a: MONDO:0005498 {source="Orphanet:254504"} ! botulism
property_value: exactMatch http://identifiers.org/snomedct/409562009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1443900
property_value: exactMatch Orphanet:254504

[Term]
id: MONDO:0016778
name: iatrogenic botulism
def: "Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." [Orphanet:254509]
subset: ordo_clinical_subtype {source="Orphanet:254509"}
synonym: "accidental botulism" EXACT [NCIT:C128345]
synonym: "inadvertent botulism" EXACT [Orphanet:254509]
xref: ICD10:A05.1 {source="ORDO:254509/ntbt", source="Orphanet:254509"}
xref: NCIT:C128345 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:254509 {source="MONDO:equivalentTo"}
xref: UMLS:C4288922 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005498 {source="NCIT:C128345", source="Orphanet:254509"} ! botulism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288922
property_value: exactMatch NCIT:C128345
property_value: exactMatch Orphanet:254509

[Term]
id: MONDO:0016779
name: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
def: "Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." [Orphanet:254519]
subset: ordo_malformation_syndrome {source="Orphanet:254519"}
synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [Orphanet:254519]
xref: Orphanet:254519 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:254519", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:254519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch Orphanet:254519

[Term]
id: MONDO:0016780
name: paternal 14q32.2 microdeletion syndrome
subset: ordo_etiological_subtype {source="Orphanet:254525"}
synonym: "paternal del(14)(q32.2)" EXACT [Orphanet:254525]
synonym: "paternal monosomy 14q32.2" EXACT [Orphanet:254525]
xref: ICD10:Q93.5 {source="ORDO:254525/attributed", source="ORDO:254525/ntbt", source="Orphanet:254525"}
xref: Orphanet:254525 {source="MONDO:equivalentTo"}
xref: UMLS:CN202036 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0014541 {source="Orphanet:254525"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect
is_a: MONDO:0016912 {source="Orphanet:254525"} ! partial deletion of the long arm of chromosome 14
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202036
property_value: exactMatch Orphanet:254525

[Term]
id: MONDO:0016781
name: maternal 14q32.2 microdeletion syndrome
subset: ordo_etiological_subtype {source="Orphanet:254528"}
synonym: "maternal del(14)(q32.2)" EXACT [Orphanet:254528]
synonym: "maternal monosomy 14q32.2" EXACT [Orphanet:254528]
xref: ICD10:Q93.5 {source="ORDO:254528/attributed", source="ORDO:254528/ntbt", source="Orphanet:254528"}
xref: Orphanet:254528 {source="MONDO:equivalentTo"}
xref: UMLS:CN202037 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016779 {source="Orphanet:254528"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202037
property_value: exactMatch Orphanet:254528

[Term]
id: MONDO:0016782
name: paternal 14q32.2 hypomethylation syndrome
subset: ordo_etiological_subtype {source="Orphanet:254531"}
xref: Orphanet:254531 {source="MONDO:equivalentTo"}
xref: UMLS:CN202038 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0014541 {source="Orphanet:254531"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202038
property_value: exactMatch Orphanet:254531

[Term]
id: MONDO:0016783
name: maternal 14q32.2 hypermethylation syndrome
subset: ordo_etiological_subtype {source="Orphanet:254534"}
xref: ICD10:Q99.8 {source="ORDO:254534/attributed", source="ORDO:254534/ntbt", source="Orphanet:254534"}
xref: Orphanet:254534 {source="MONDO:equivalentTo"}
xref: UMLS:CN202039 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016779 {source="Orphanet:254534"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202039
property_value: exactMatch Orphanet:254534

[Term]
id: MONDO:0016784
name: gestational trophoblastic disease
comment: Grouping for hydatidiform mole and gestational trophoblastic neoplasm
subset: ordo_group_of_disorders {source="Orphanet:254685"}
xref: ICD9:631 {source="MONDO:relatedTo", source="i2s"}
xref: ONCOTREE:GTD {source="MONDO:equivalentTo"}
xref: Orphanet:254685 {source="MONDO:equivalentTo"}
xref: SCTID:416402001 {source="MONDO:kboom-pr-0.90/0.75/0.51", source="MONDO:equivalentTo"}
is_a: MONDO:0021148 {source="Orphanet:254685"} ! female reproductive system neoplasm
is_a: MONDO:0024575 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pregnancy disorder
union_of: MONDO:0006248 ! hydatidiform mole
union_of: MONDO:0018944 ! gestational trophoblastic neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020037"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/416402001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931618
property_value: exactMatch Orphanet:254685

[Term]
id: MONDO:0016785
name: complete hydatidiform mole
def: "Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term)." [Orphanet:254688]
subset: ordo_clinical_subtype {source="Orphanet:254688"}
synonym: "classical hydatidiform Mole" EXACT [NCIT:C4871]
synonym: "complete hydatid Mole" EXACT [NCIT:C4871]
synonym: "complete molar pregnancy" EXACT [Orphanet:254688]
synonym: "complete Mole" EXACT [NCIT:C4871]
xref: ICD10:O01.0 {source="Orphanet:254688", source="ORDO:254688/e"}
xref: NCIT:C4871 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CHM {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="MONDO:equivalentTo"}
xref: SCTID:237249000 {source="MONDO:kboom-pr-0.82/0.56/0.51", source="MONDO:equivalentTo"}
xref: UMLS:C0678213 {source="MONDO:equivalentTo", source="Orphanet:254688", source="NCIT:C4871", source="ORDO:254688/e"}
is_a: MONDO:0006248 {source="NCIT:C4871", source="ONCOTREE:CHM", source="Orphanet:254688"} ! hydatidiform mole
property_value: exactMatch http://identifiers.org/snomedct/237249000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678213
property_value: exactMatch NCIT:C4871
property_value: exactMatch Orphanet:254688

[Term]
id: MONDO:0016786
name: partial hydatidiform mole
def: "Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." [Orphanet:254693]
subset: ordo_clinical_subtype {source="Orphanet:254693"}
synonym: "incomplete hydatid Mole" EXACT [NCIT:C4293]
synonym: "incomplete hydatidiform mole" EXACT [Orphanet:254693]
synonym: "incomplete molar pregnancy" EXACT [Orphanet:254693]
synonym: "partial hydatid Mole" EXACT [NCIT:C4293]
synonym: "partial molar pregnancy" EXACT [Orphanet:254693]
synonym: "partial Mole" EXACT [NCIT:C4293]
synonym: "PHM" RELATED [ONCOTREE:PHM]
xref: ICD10:O01.1 {source="Orphanet:254693", source="ORDO:254693/e"}
xref: ICDO:9103/0 {source="NCIT:C4293"}
xref: NCIT:C4293 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: ONCOTREE:PHM {source="MONDO:equivalentTo"}
xref: Orphanet:254693 {source="MONDO:equivalentTo"}
xref: SCTID:237250000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334529 {source="Orphanet:254693", source="NCIT:C4293", source="ORDO:254693/e", source="MONDO:equivalentTo"}
is_a: MONDO:0006248 {source="NCIT:C4293", source="ONCOTREE:PHM", source="Orphanet:254693"} ! hydatidiform mole
property_value: exactMatch http://identifiers.org/snomedct/237250000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334529
property_value: exactMatch NCIT:C4293
property_value: exactMatch Orphanet:254693

[Term]
id: MONDO:0016787
name: epithelioid trophoblastic tumor
def: "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy." [Orphanet:254698]
subset: ordo_disease {source="Orphanet:254698"}
synonym: "epithelioid trophoblastic tumor" EXACT [MONDO:0002700]
synonym: "ETT" RELATED [ONCOTREE:ETT]
xref: DOID:3593 {source="MONDO:equivalentTo"}
xref: ICD10:D39.2 {source="ORDO:254698/ntbt", source="Orphanet:254698"}
xref: ICDO:9105/3 {source="NCIT:C6900"}
xref: NCIT:C6900 {source="MONDO:equivalentTo", source="DOID:3593"}
xref: ONCOTREE:ETT {source="MONDO:equivalentTo"}
xref: Orphanet:254698 {source="MONDO:equivalentTo"}
xref: SCTID:609515005 {source="MONDO:kboom-pr-0.88/0.77/0.05", source="MONDO:equivalentTo", source="DOID:3593"}
xref: UMLS:C1266159 {source="ORDO:254698/e", source="MONDO:equivalentTo", source="Orphanet:254698", source="NCIT:C6900", source="DOID:3593"}
is_a: MONDO:0018944 {source="NCIT:C6900", source="Orphanet:254698", source="linkedlifedata"} ! gestational trophoblastic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/128767001
property_value: exactMatch DOID:3593
property_value: exactMatch http://identifiers.org/snomedct/609515005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266159
property_value: exactMatch NCIT:C6900
property_value: exactMatch Orphanet:254698

[Term]
id: MONDO:0016788
name: genetic hyperferritinemia without iron overload
def: "Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." [Orphanet:254704]
subset: ordo_biological_anomaly {source="Orphanet:254704"}
synonym: "benign hyperferritinemia" EXACT [Orphanet:254704]
xref: Orphanet:254704 {source="MONDO:equivalentTo"}
xref: SCTID:766929007 {source="MONDO:equivalentTo"}
is_a: MONDO:0018652 {source="Orphanet:254704"} ! biological anomaly without phenotypic characterization
property_value: exactMatch http://identifiers.org/snomedct/766929007
property_value: exactMatch Orphanet:254704

[Term]
id: MONDO:0016789
name: pyruvate metabolism disorder
def: "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:254746"}
synonym: "inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyruvate metabolic process disorder" EXACT []
synonym: "rare inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of pyruvate metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E74.4 {source="ORDO:254746/attributed", source="ORDO:254746/ntbt", source="Orphanet:254746"}
xref: Orphanet:254746 {source="MONDO:equivalentTo"}
xref: UMLS:CN226999 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000688 ! inherited organic acidemia
is_a: MONDO:0019243 {source="Orphanet:254746"} ! inborn disorder of energy metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226999
property_value: exactMatch Orphanet:254746

[Term]
id: MONDO:0016790
name: tricarboxylic acid cycle disorder
def: "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:254749"}
synonym: "citric acid cycle disorder" EXACT [Orphanet:254749]
synonym: "inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn tricarboxylic acid cycle disorder" EXACT []
synonym: "Krebs cycle disorder" EXACT [Orphanet:254749]
synonym: "rare inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of tricarboxylic acid cycle" RELATED [MONDO:patterns/inborn_metabolic]
synonym: "TCA cycle disorder" EXACT [Orphanet:254749]
xref: ICD10:E88.8 {source="Orphanet:254749", source="ORDO:254749/attributed", source="ORDO:254749/ntbt"}
xref: Orphanet:254749 {source="MONDO:equivalentTo"}
xref: UMLS:CN227000 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019243 {source="MONDO:Redundant", source="Orphanet:254749"} ! inborn disorder of energy metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227000
property_value: exactMatch Orphanet:254749

[Term]
id: MONDO:0016791
name: mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
subset: ordo_group_of_disorders {source="Orphanet:254758"}
synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [Orphanet:254758]
synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [Orphanet:254758]
synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [Orphanet:254758]
xref: Orphanet:254758 {source="MONDO:equivalentTo"}
xref: UMLS:CN202048 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016387 {source="Orphanet:254758"} ! mitochondrial oxidative phosphorylation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202048
property_value: exactMatch Orphanet:254758

[Term]
id: MONDO:0016792
name: mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
subset: ordo_group_of_disorders {source="Orphanet:254767"}
synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767]
synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [Orphanet:254767]
synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767]
xref: Orphanet:254767 {source="MONDO:equivalentTo"}
xref: UMLS:CN202049 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016791 {source="Orphanet:254767"} ! mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202049
property_value: exactMatch Orphanet:254767

[Term]
id: MONDO:0016793
name: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
subset: ordo_group_of_disorders {source="Orphanet:254776"}
synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [Orphanet:254776]
synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [Orphanet:254776]
synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [Orphanet:254776]
xref: Orphanet:254776 {source="MONDO:equivalentTo"}
xref: UMLS:CN202050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016791 {source="Orphanet:254776"} ! mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202050
property_value: exactMatch Orphanet:254776

[Term]
id: MONDO:0016794
name: maternally-inherited mitochondrial myopathy
subset: ordo_group_of_disorders {source="Orphanet:254788"}
xref: ICD10:G71.3 {source="ORDO:254788/attributed", source="ORDO:254788/ntbt", source="Orphanet:254788"}
xref: Orphanet:254788 {source="MONDO:equivalentTo"}
is_a: MONDO:0016793 {source="Orphanet:254788"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: exactMatch Orphanet:254788

[Term]
id: MONDO:0016795
name: mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
subset: ordo_group_of_disorders {source="Orphanet:254793"}
synonym: "mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA" EXACT [Orphanet:254793]
synonym: "OXPHOS disease due to a duplication of mitochondrial DNA" EXACT [Orphanet:254793]
synonym: "OXPHOS disease due to a duplication of mtDNA" EXACT [Orphanet:254793]
xref: Orphanet:254793 {source="MONDO:equivalentTo"}
xref: UMLS:CN202051 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016791 {source="Orphanet:254793"} ! mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202051
property_value: exactMatch Orphanet:254793

[Term]
id: MONDO:0016796
name: mitochondrial DNA depletion syndrome, encephalomyopathic form
def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." [Orphanet:254803]
subset: ordo_group_of_disorders {source="Orphanet:254803"}
synonym: "mtDNA depletion syndrome, encephalomyopathic form" EXACT [Orphanet:254803]
xref: Orphanet:254803 {source="MONDO:equivalentTo"}
xref: UMLS:CN202052 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN230130 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018158 {source="Orphanet:254803"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0019058 {source="Orphanet:254803"} ! neurometabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230130
property_value: exactMatch Orphanet:254803

[Term]
id: MONDO:0016797
name: multiple mitochondrial DNA deletion syndrome
subset: ordo_group_of_disorders {source="Orphanet:254807"}
synonym: "multiple mtDNA deletion syndrome" EXACT [Orphanet:254807]
xref: Orphanet:254807 {source="MONDO:equivalentTo"}
xref: UMLS:CN202053 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018121 {source="Orphanet:254807"} ! mitochondrial DNA maintenance syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202053
property_value: exactMatch Orphanet:254807

[Term]
id: MONDO:0016798
name: ataxia neuropathy spectrum
subset: ordo_group_of_disorders {source="Orphanet:254818"}
xref: Orphanet:254818 {source="MONDO:equivalentTo"}
xref: UMLS:C3683791 {source="Orphanet:254818", source="MONDO:equivalentTo"}
is_a: MONDO:0016797 {source="Orphanet:254818"} ! multiple mitochondrial DNA deletion syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3683791
property_value: exactMatch Orphanet:254818

[Term]
id: MONDO:0016799
name: mitochondrial oxidative phosphorylation disorder with no known mechanism
subset: ordo_group_of_disorders {source="Orphanet:254822"}
synonym: "OXPHOS disease with no known mechanism" EXACT [Orphanet:254822]
xref: Orphanet:254822 {source="MONDO:equivalentTo"}
xref: UMLS:CN202054 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016578 {source="Orphanet:254822"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202054
property_value: exactMatch Orphanet:254822

[Term]
id: MONDO:0016800
name: mitochondrial membrane transport disorder
subset: ordo_group_of_disorders {source="Orphanet:254827"}
xref: Orphanet:254827 {source="MONDO:equivalentTo"}
xref: UMLS:CN227001 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:254827"} ! inborn mitochondrial metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227001
property_value: exactMatch Orphanet:254827

[Term]
id: MONDO:0016801
name: mitochondrial substrate carrier disorder
subset: ordo_group_of_disorders {source="Orphanet:254830"}
xref: Orphanet:254830 {source="MONDO:equivalentTo"}
xref: UMLS:CN227002 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016800 {source="Orphanet:254830"} ! mitochondrial membrane transport disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227002
property_value: exactMatch Orphanet:254830

[Term]
id: MONDO:0016802
name: mitochondrial protein import disorder
subset: ordo_group_of_disorders {source="Orphanet:254834"}
xref: Orphanet:254834 {source="MONDO:equivalentTo"}
xref: UMLS:CN227003 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016800 {source="Orphanet:254834"} ! mitochondrial membrane transport disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227003
property_value: exactMatch Orphanet:254834

[Term]
id: MONDO:0016803
name: unspecified inborn mitochondrial disorder
subset: ordo_group_of_disorders {source="Orphanet:254837"}
synonym: "unspecified mitochondrial disorder" EXACT [Orphanet:254837]
xref: Orphanet:254837 {source="MONDO:equivalentTo"}
xref: UMLS:CN227004 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="Orphanet:254837"} ! inborn mitochondrial metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227004
property_value: exactMatch Orphanet:254837

[Term]
id: MONDO:0016804
name: exercise intolerance with lactic acidosis
subset: ordo_group_of_disorders {source="Orphanet:254843"}
xref: Orphanet:254843 {source="MONDO:equivalentTo"}
is_a: MONDO:0017718 {source="Orphanet:254843"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: exactMatch Orphanet:254843

[Term]
id: MONDO:0016805
name: isolated oxidative phosphorylation complex disorder
subset: ordo_group_of_disorders {source="Orphanet:254846"}
synonym: "isolated respiratory chain complex disorder" EXACT [Orphanet:254846]
xref: Orphanet:254846 {source="MONDO:equivalentTo"}
xref: UMLS:CN227005 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016387 {source="Orphanet:254846"} ! mitochondrial oxidative phosphorylation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227005
property_value: exactMatch Orphanet:254846

[Term]
id: MONDO:0016806
name: maternally-inherited mitochondrial dystonia
def: "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." [Orphanet:254851]
subset: ordo_disease {source="Orphanet:254851"}
xref: ICD10:G24.8 {source="Orphanet:254851", source="ORDO:254851/attributed", source="ORDO:254851/ntbt"}
xref: Orphanet:254851 {source="MONDO:equivalentTo"}
xref: SCTID:717054001 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C4274074 {source="MONDO:equivalentTo"}
is_a: MONDO:0016793 {source="Orphanet:254851"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: exactMatch http://identifiers.org/snomedct/717054001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274074
property_value: exactMatch Orphanet:254851

[Term]
id: MONDO:0016807
name: pure mitochondrial myopathy
def: "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." [Orphanet:254854]
subset: ordo_disease {source="Orphanet:254854"}
xref: ICD10:G71.3 {source="ORDO:254854/attributed", source="ORDO:254854/ntbt", source="Orphanet:254854"}
xref: Orphanet:254854 {source="MONDO:equivalentTo"}
xref: SCTID:732245008 {source="MONDO:equivalentTo"}
xref: UMLS:C4517289 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016794 {source="Orphanet:254854"} ! maternally-inherited mitochondrial myopathy
property_value: exactMatch http://identifiers.org/snomedct/732245008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4517289
property_value: exactMatch Orphanet:254854

[Term]
id: MONDO:0016808
name: mitochondrial DNA depletion syndrome, hepatocerebral form
comment: Editor note: consider merging with MONDO:0014943
subset: ordo_group_of_disorders {source="Orphanet:254871"}
synonym: "deoxyguanosine kinase deficiency" EXACT [Orphanet:254871]
synonym: "mtDNA depletion syndrome, hepatocerebral form" EXACT [Orphanet:254871]
xref: MESH:C580039 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:254871 {source="MONDO:equivalentTo"}
xref: UMLS:C3711385 {source="Orphanet:254871", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94"}
xref: UMLS:CN069134 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018158 {source="Orphanet:254871"} ! mitochondrial DNA depletion syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C580039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711385
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN069134
property_value: exactMatch Orphanet:254871

[Term]
id: MONDO:0016809
name: spinocerebellar ataxia with epilepsy
subset: ordo_disease {source="Orphanet:254881"}
synonym: "mitochondrial spinocerebellar ataxia with epilepsy" EXACT [Orphanet:254881]
synonym: "MSCAE" EXACT [Orphanet:254881]
synonym: "SCAE" EXACT [Orphanet:254881]
xref: Orphanet:254881 {source="MONDO:equivalentTo"}
xref: UMLS:C1843852 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:254881", source="MONDO:equivalentTo"}
xref: UMLS:CN202060 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011835 ! sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843852
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202060
property_value: exactMatch Orphanet:254881

[Term]
id: MONDO:0016810
name: autosomal recessive progressive external ophthalmoplegia
def: "Autosomal recessive form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_recessive]
subset: ordo_disease {source="Orphanet:254886"}
synonym: "arPEO" EXACT [Orphanet:254886]
synonym: "progressive external ophthalmoplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:H49.4 {source="MONDO:relatedTo", source="ORDO:254886/attributed", source="ORDO:254886/ntbt", source="Orphanet:254886"}
xref: MESH:C564926 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:254886 {source="MONDO:equivalentTo"}
is_a: MONDO:0005181 ! progressive external ophthalmoplegia
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016797 {source="Orphanet:254886"} ! multiple mitochondrial DNA deletion syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850303
property_value: exactMatch http://identifiers.org/mesh/C564926
property_value: exactMatch Orphanet:254886

[Term]
id: MONDO:0016811
name: renal tubulopathy-encephalopathy-liver failure syndrome
def: "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." [Orphanet:254902]
subset: ordo_disease {source="Orphanet:254902"}
xref: ICD10:E88.8 {source="ORDO:254902/attributed", source="ORDO:254902/ntbt", source="Orphanet:254902"}
xref: Orphanet:254902 {source="MONDO:equivalentTo"}
xref: UMLS:CN202065 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007415 ! mitochondrial complex III deficiency nuclear type 1
is_a: MONDO:0017718 {source="Orphanet:254902"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202065
property_value: exactMatch Orphanet:254902

[Term]
id: MONDO:0016812
name: dopa-responsive dystonia
def: "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." [Orphanet:255]
subset: ordo_group_of_disorders {source="Orphanet:255"}
synonym: "DYT-GCH1 (subtype)" RELATED [GARD:0009817]
synonym: "DYT-SPR (subtype)" RELATED [GARD:0009817]
synonym: "DYT-TH (subtype)" RELATED [GARD:0009817]
synonym: "DYT5" RELATED [GARD:0009817]
synonym: "DYT5 dystonia" EXACT [NCIT:C116719]
synonym: "hereditary progressive dystonia with diurnal fluctuation" EXACT [Orphanet:255]
synonym: "HPD with diurnal fluctuation" EXACT [Orphanet:255]
synonym: "Segawa's disease" EXACT [NCIT:C116719]
xref: GARD:0009817 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.8 {source="ORDO:255/attributed", source="ORDO:255/ntbt", source="Orphanet:255"}
xref: MESH:C538007 {source="MONDO:equivalentTo", source="ORDO:255/e", source="Orphanet:255"}
xref: NCIT:C116719 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:255 {source="MONDO:equivalentTo"}
xref: SCTID:230332007 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C1851920 {source="NCIT:C116719", source="MONDO:equivalentTo", source="ORDO:255/e", source="Orphanet:255"}
is_a: MONDO:0018329 {source="MONDO:Redundant", source="Orphanet:255"} ! persistent combined dystonia
is_a: MONDO:0019058 {source="Orphanet:255"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C538007
property_value: exactMatch http://identifiers.org/snomedct/230332007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851920
property_value: exactMatch NCIT:C116719
property_value: exactMatch Orphanet:255

[Term]
id: MONDO:0016813
name: obsolete microsporidiosis
is_obsolete: true
replaced_by: MONDO:0005846

[Term]
id: MONDO:0016814
name: maternally-inherited Leigh syndrome
def: "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." [Orphanet:255210]
subset: ordo_disease {source="Orphanet:255210"}
synonym: "Leigh disease, maternally inherited" RELATED [GARD:0003671]
synonym: "maternally inherited Leigh syndrome" RELATED [GARD:0003671]
synonym: "maternally-inherited infantile subacute necrotizing encephalopathy" EXACT [Orphanet:255210]
synonym: "maternally-inherited Leigh disease" EXACT [Orphanet:255210]
synonym: "MILS" EXACT [Orphanet:255210]
synonym: "mitochondrial DNA-associated Leigh syndrome" RELATED [GARD:0003671]
synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" RELATED [GARD:0003671]
xref: GARD:0003671 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G31.8 {source="Orphanet:255210", source="ORDO:255210/attributed", source="ORDO:255210/ntbt"}
xref: MESH:C536035 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:255210 {source="MONDO:equivalentTo"}
xref: SCTID:717052002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0009723 {source="MONDOLEX:0016814", source="linkedlifedata"} ! Leigh syndrome
is_a: MONDO:0016793 {source="Orphanet:255210"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: exactMatch http://identifiers.org/mesh/C536035
property_value: exactMatch http://identifiers.org/snomedct/717052002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931092
property_value: exactMatch Orphanet:255210

[Term]
id: MONDO:0016815
name: Leigh syndrome with leukodystrophy
subset: ordo_disease {source="Orphanet:255241"}
synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241]
synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241]
xref: ICD10:G31.8 {source="ORDO:255241/attributed", source="ORDO:255241/ntbt", source="Orphanet:255241"}
xref: Orphanet:255241 {source="MONDO:equivalentTo"}
xref: UMLS:CN202083 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009723 {source="MONDOLEX:0016815"} ! Leigh syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202083
property_value: exactMatch Orphanet:255241

[Term]
id: MONDO:0016816
name: Leigh syndrome with nephrotic syndrome
subset: ordo_disease {source="Orphanet:255249"}
synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249]
synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249]
xref: ICD10:G31.8 {source="ORDO:255249/attributed", source="ORDO:255249/ntbt", source="Orphanet:255249"}
xref: Orphanet:255249 {source="MONDO:equivalentTo"}
xref: UMLS:CN202084 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009723 {source="Orphanet:255249"} ! Leigh syndrome
is_a: MONDO:0018151 {source="Orphanet:255249"} ! coenzyme Q10 deficiency
relationship: disease_has_feature MONDO:0005377 ! nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202084
property_value: exactMatch Orphanet:255249

[Term]
id: MONDO:0016817
name: Meier-Gorlin syndrome
def: "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." [Orphanet:2554]
subset: ordo_malformation_syndrome {source="Orphanet:2554"}
synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306]
synonym: "Meier-Gorlin syndrome" EXACT [Orphanet:2554]
xref: DOID:0060306 {source="MONDO:equivalentTo"}
xref: GARD:0002033 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:2554", source="ORDO:2554/attributed", source="ORDO:2554/ntbt"}
xref: MedDRA:10070612 {source="ORDO:2554/e", source="Orphanet:2554"}
xref: MESH:C538012 {source="ORDO:2554/e", source="Orphanet:2554", source="MONDO:equivalentTo", source="DOID:0060306"}
xref: OMIMPS:224690 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="MONDO:equivalentTo", source="DOID:0060306"}
is_a: MONDO:0006025 {source="DOID:0060306", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015334 {source="Orphanet:2554"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0017950 {source="Orphanet:2554"} ! microcephalic primordial dwarfism
is_a: MONDO:0019712 {source="Orphanet:2554"} ! patellar dysostosis
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2554"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:0060306
property_value: exactMatch http://identifiers.org/meddra/10070612
property_value: exactMatch http://identifiers.org/mesh/C538012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868684
property_value: exactMatch Orphanet:2554

[Term]
id: MONDO:0016818
name: Mikati-Najjar-Sahli syndrome
def: "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." [Orphanet:2558]
subset: ordo_malformation_syndrome {source="Orphanet:2558"}
synonym: "microcephaly-hypergonadotropic hypogonadism-short stature syndrome" EXACT [Orphanet:2558]
xref: ICD10:E22.8 {source="ORDO:2558/attributed", source="ORDO:2558/ntbt", source="Orphanet:2558"}
xref: Orphanet:2558 {source="MONDO:equivalentTo"}
xref: UMLS:CN202088 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 ! syndromic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015906"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202088
property_value: exactMatch Orphanet:2558

[Term]
id: MONDO:0016819
name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." [Orphanet:2560]
subset: ordo_malformation_syndrome {source="Orphanet:2560"}
xref: Orphanet:2560 {source="MONDO:equivalentTo"}
xref: UMLS:C2931024 {source="MONDO:equivalentTo", source="Orphanet:2560", source="ORDO:2560/e"}
is_a: MONDO:0015890 {source="Orphanet:2560"} ! rare disorder with congenital hypogonadotropic hypogonadism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931024
property_value: exactMatch Orphanet:2560

[Term]
id: MONDO:0016820
name: Moyamoya disease
def: "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." [Orphanet:2573]
subset: ordo_disease {source="Orphanet:2573"}
synonym: "idiopathic Moyamoya disease" EXACT [Orphanet:2573]
synonym: "Moyamoya disease, primary" RELATED [GARD:0007064]
synonym: "Moyamoya disease, secondary" RELATED [GARD:0007064]
synonym: "MYMY" RELATED [GARD:0007064]
synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099]
xref: COHD:378774 {source="MONDO:equivalentTo"}
xref: DOID:13099 {source="MONDO:equivalentTo"}
xref: GARD:0007064 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I67.5 {source="Orphanet:2573", source="ORDO:2573/e", source="ORDO:2573/specific", source="DOID:13099"}
xref: ICD9:437.5 {source="MONDO:superClassOf", source="DOID:13099"}
xref: MedDRA:10028047 {source="Orphanet:2573", source="ORDO:2573/e"}
xref: MESH:D009072 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:equivalentTo", source="DOID:13099"}
xref: NCIT:C84895 {source="MONDO:equivalentTo", source="DOID:13099", source="MONDO:kboom-pr-0.95/0.78/1.67"}
xref: OMIMPS:252350 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2573 {source="MONDO:equivalentTo", source="DOID:13099"}
xref: SCTID:89142007 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equivalentTo", source="DOID:13099"}
xref: UMLS:C0026654 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:equivalentTo", source="DOID:13099", source="NCIT:C84895"}
is_a: MONDO:0006693 {source="DOID:13099", source="MESH:D009072"} ! cerebral arterial disease
is_a: MONDO:0015953 ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018791 {source="Orphanet:2573"} ! Moyomoya angiopathy
property_value: exactMatch DOID:13099
property_value: exactMatch http://identifiers.org/meddra/10028047
property_value: exactMatch http://identifiers.org/mesh/C536991
property_value: exactMatch http://identifiers.org/mesh/D009072
property_value: exactMatch http://identifiers.org/snomedct/89142007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026654
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931384
property_value: exactMatch NCIT:C84895
property_value: exactMatch Orphanet:2573

[Term]
id: MONDO:0016821
name: shoulder and girdle defects-familial intellectual disability syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2580"}
synonym: "shoulder girdle defect mental retardation familial" RELATED [GARD:0004860]
xref: GARD:0004860 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="Orphanet:2580", source="ORDO:2580/attributed", source="ORDO:2580/ntbt"}
xref: Orphanet:2580 {source="MONDO:equivalentTo"}
xref: UMLS:CN227007 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2580"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227007
property_value: exactMatch Orphanet:2580

[Term]
id: MONDO:0016822
name: myalgia-eosinophilia syndrome associated with tryptophan
def: "Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." [Orphanet:2582]
subset: ordo_malformation_syndrome {source="Orphanet:2582"}
xref: ICD10:M35.8 {source="ORDO:2582/ntbt", source="Orphanet:2582"}
xref: MedDRA:10014952 {source="Orphanet:2582", source="ORDO:2582/e"}
xref: Orphanet:2582 {source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:2582"} ! systemic disease
property_value: exactMatch http://identifiers.org/meddra/10014952
property_value: exactMatch http://identifiers.org/mesh/D016603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275050
property_value: exactMatch Orphanet:2582

[Term]
id: MONDO:0016823
name: mycetoma
def: "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." [Orphanet:2583]
subset: ordo_disease {source="Orphanet:2583"}
synonym: "Madura foot" EXACT [Orphanet:2583]
xref: GARD:0003862 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B47 {source="MONDO:equivalentTo"}
xref: ICD10:B47.0 {source="Orphanet:2583", source="ORDO:2583/btnt"}
xref: ICD10:B47.1 {source="Orphanet:2583", source="ORDO:2583/btnt"}
xref: ICD10:B47.9 {source="Orphanet:2583", source="ORDO:2583/btnt"}
xref: MedDRA:10028427 {source="Orphanet:2583", source="ORDO:2583/e"}
xref: MESH:D008271 {source="Orphanet:2583", source="MONDO:equivalentTo", source="ORDO:2583/e"}
xref: NCIT:C85505 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:2583 {source="MONDO:equivalentTo"}
xref: SCTID:410039003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.67/0.26"}
xref: UMLS:C0024449 {source="Orphanet:2583", source="NCIT:C85505", source="MONDO:equivalentTo", source="ORDO:2583/e"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C85505", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease
is_a: MONDO:0019296 {source="https://github.com/monarch-initiative/mondo/issues/581"} ! subcutaneous tissue disease
relationship: excluded_subClassOf MONDO:0002041 {source="Orphanet:2583"} ! fungal infectious disease
relationship: excluded_subClassOf MONDO:0005113 {source="Orphanet:2583"} ! bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575", source="MONDO:0015578"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10028427
property_value: exactMatch http://identifiers.org/mesh/D008271
property_value: exactMatch http://identifiers.org/snomedct/410039003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024449
property_value: exactMatch NCIT:C85505
property_value: exactMatch Orphanet:2583

[Term]
id: MONDO:0016824
name: myofibromatosis
def: "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C3742]
subset: gard_rare {source="GARD:0002998"}
subset: ordo_disease {source="Orphanet:2591"}
synonym: "IMS" RELATED [ONCOTREE:IMS]
synonym: "infantile hemangiopericytoma" EXACT [NCIT:C3742]
synonym: "infantile myofibromatosis" EXACT [NCIT:C3742]
synonym: "multicentric myofibromatosis" EXACT [NCIT:C3742]
synonym: "myofibromatosis" EXACT [NCIT:C3742]
xref: DOID:0080109 {source="MONDO:equivalentTo"}
xref: GARD:0002998 {source="MONDO:equivalentTo"}
xref: ICD10:D48.1 {source="Orphanet:2591", source="ORDO:2591/attributed", source="ORDO:2591/ntbt"}
xref: ICDO:8824/1 {source="NCIT:C3742"}
xref: MESH:D018224 {source="MONDO:equivalentTo"}
xref: NCIT:C3742 {source="MONDO:equivalentTo"}
xref: OMIMPS:228550 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ONCOTREE:IMS {source="MONDO:equivalentTo"}
xref: Orphanet:2591 {source="MONDO:equivalentTo", source="DOID:0080109"}
xref: UMLS:C0206648 {source="MONDO:equivalentTo", source="NCIT:C3742"}
is_a: MONDO:0003342 {source="NCIT:C3742"} ! benign perivascular tumor
is_a: MONDO:0015950 {source="Orphanet:2591", source="indirect"} ! inherited skin tumor
is_a: MONDO:0016123 {source="Orphanet:2591"} ! muscular tumor
is_a: MONDO:0017127 {source="MONDO:Redundant", source="Orphanet:2591"} ! inherited soft tissue tumor
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0021440 ! benign neoplasm of skin
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0044335 ! benign soft tissue neoplasm
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:2591"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch DOID:0080109
property_value: exactMatch http://identifiers.org/mesh/D018224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206648
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432284
property_value: exactMatch NCIT:C3742
property_value: exactMatch Orphanet:2591
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis xsd:anyURI {source="GARD:0002998"}

[Term]
id: MONDO:0016825
name: mitochondrial myopathy-lactic acidosis-deafness syndrome
def: "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." [Orphanet:2597]
subset: gard_rare {source="GARD:0003682"}
subset: ordo_disease {source="Orphanet:2597"}
synonym: "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" RELATED [GARD:0003682]
synonym: "mitochondrial myopathy with lactic acidosis" EXACT [MONDO:Lexical, OMIM:251950]
synonym: "mitochondrial myopathy with lactic acidosis; MMLA" RELATED [OMIM:251950]
synonym: "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" EXACT [Orphanet:2597]
synonym: "MMLA" RELATED [MONDO:Lexical, OMIM:251950]
xref: GARD:0003682 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="Orphanet:2597", source="ORDO:2597/attributed", source="ORDO:2597/ntbt"}
xref: MESH:C537476 {source="Orphanet:2597", source="ORDO:2597/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:251950 {source="Orphanet:2597", source="MONDO:equivalentTo", source="ORDO:2597/ntbt"}
xref: Orphanet:2597 {source="MONDO:equivalentTo", source="OMIM:251950"}
is_a: MONDO:0009637 {source="MESH:C537476", source="MONDO:cjm"} ! inborn mitochondrial myopathy
is_a: MONDO:0019589 {source="Orphanet:2597"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/mesh/C537476
property_value: exactMatch http://identifiers.org/omim/251950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855033
property_value: exactMatch Orphanet:2597
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis xsd:anyURI {source="GARD:0003682"}

[Term]
id: MONDO:0016826
name: methylmalonic acidemia with homocystinuria
def: "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." [Orphanet:26]
subset: gard_rare {source="GARD:0003579"}
subset: ordo_disease {source="Orphanet:26"}
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis" EXACT [Orphanet:26]
synonym: "methylmalonic acidemia and homocystinemia" RELATED [GARD:0003579]
synonym: "methylmalonic aciduria with homocystinuria" EXACT [Orphanet:26]
xref: DC:0000274 {source="MONDO:equivalentTo"}
xref: GARD:0003579 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:26/attributed", source="ORDO:26/ntbt", source="Orphanet:26"}
xref: MESH:C537359 {source="ORDO:26/e", source="MONDO:equivalentTo", source="Orphanet:26"}
xref: Orphanet:26 {source="MONDO:equivalentTo"}
is_a: MONDO:0002012 {source="DC:0000274", source="MONDO:Redundant"} ! methylmalonic acidemia
is_a: MONDO:0004737 {source="DC:0000274", source="MONDO:Redundant"} ! homocystinuria (disease)
is_a: MONDO:0019215 {source="Orphanet:26"} ! classic organic aciduria
is_a: MONDO:0019220 {source="Orphanet:26"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0020109 {source="Orphanet:26"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
intersection_of: MONDO:0002012 ! methylmalonic acidemia
intersection_of: MONDO:0004737 ! homocystinuria (disease)
disjoint_from: MONDO:0018964 ! homocystinuria without methylmalonic aciduria
property_value: exactMatch http://identifiers.org/mesh/C537359
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848561
property_value: exactMatch Orphanet:26
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria xsd:anyURI {source="GARD:0003579"}

[Term]
id: MONDO:0016827
name: myopathy-growth delay-intellectual disability-hypospadias syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2601"}
xref: ICD10:G71.8 {source="ORDO:2601/attributed", source="ORDO:2601/ntbt", source="Orphanet:2601"}
xref: Orphanet:2601 {source="MONDO:equivalentTo"}
xref: UMLS:CN230273 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2601"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:2601"} ! syndromic urogenital tract malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230273
property_value: exactMatch Orphanet:2601

[Term]
id: MONDO:0016828
name: autosomal recessive sideroblastic anemia
def: "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." [Orphanet:260305]
subset: ordo_disease {source="Orphanet:260305"}
synonym: "ARSA" EXACT [Orphanet:260305]
synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305]
synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:D64.0 {source="ORDO:260305/attributed", source="ORDO:260305/ntbt", source="Orphanet:260305"}
xref: Orphanet:260305 {source="MONDO:equivalentTo"}
xref: SCTID:717050005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274077 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0020099 {source="Orphanet:260305"} ! constitutional sideroblastic anemia
property_value: exactMatch http://identifiers.org/snomedct/717050005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274077
property_value: exactMatch Orphanet:260305

[Term]
id: MONDO:0016829
name: familial visceral myopathy
def: "Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." [Orphanet:2604]
subset: ordo_disease {source="Orphanet:2604"}
synonym: "familial hollow visceral myopathy" EXACT [Orphanet:2604]
synonym: "hereditary hollow visceral myopathy" EXACT [Orphanet:2604]
synonym: "Megaduodenum and/or megacystis" EXACT [Orphanet:2604]
synonym: "pseudoobstruction idiopathic intestinal" RELATED [GARD:0003443]
synonym: "visceral myopathy familial" RELATED [GARD:0003443]
xref: GARD:0003443 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K56.0 {source="ORDO:2604/attributed", source="ORDO:2604/ntbt", source="Orphanet:2604"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:2604 {source="MONDO:equivalentTo"}
xref: SCTID:63684002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.82"}
xref: UMLS:C0266833 {source="MONDO:equivalentTo", source="ORDO:2604/e", source="MEDGEN:kboom-pr94-c94", source="Orphanet:2604"}
xref: UMLS:C1835084 {source="MONDO:equivalentTo", source="Orphanet:2604", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN202146 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007960 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
property_value: exactMatch http://identifiers.org/snomedct/63684002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835084
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202146
property_value: exactMatch Orphanet:2604

[Term]
id: MONDO:0016830
name: Emery-Dreifuss muscular dystrophy
def: "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." [Orphanet:261]
subset: ordo_disease {source="Orphanet:261"}
synonym: "EDMD" EXACT [DOID:11726, Orphanet:261]
synonym: "Humeroperoneal neuromuscular disease, (formerly)" RELATED [GARD:0006329]
synonym: "scapuloperoneal syndrome, X-linked (formerly)" RELATED [GARD:0006329]
xref: DOID:11726 {source="MONDO:equivalentTo"}
xref: GARD:0006329 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:261/ntbt", source="Orphanet:261", source="ORDO:261/inclusion"}
xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="ORDO:261/e", source="Orphanet:261"}
xref: NCIT:C84685 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11726"}
xref: OMIMPS:310300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:261 {source="MONDO:equivalentTo", source="DOID:11726"}
xref: SCTID:111508004 {source="MONDO:equivalentTo", source="DOID:11726", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0410189 {source="MONDO:equivalentTo", source="DOID:11726", source="ORDO:261/e", source="Orphanet:261", source="NCIT:C84685"}
is_a: MONDO:0016106 {source="Orphanet:261"} ! progressive muscular dystrophy
is_a: MONDO:0016334 {source="Orphanet:261"} ! neuromuscular disease with dilated cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/193233004
property_value: exactMatch DOID:11726
property_value: exactMatch http://identifiers.org/mesh/D020389
property_value: exactMatch http://identifiers.org/snomedct/111508004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410189
property_value: exactMatch NCIT:C84685
property_value: exactMatch Orphanet:261

[Term]
id: MONDO:0016831
name: linear verrucous nevus syndrome
subset: ordo_disease {source="Orphanet:2611"}
synonym: "linear hamartoma syndrome" EXACT [Orphanet:2611]
xref: GARD:0003259 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.5 {source="ORDO:2611/ntbt", source="Orphanet:2611"}
xref: Orphanet:2611 {source="MONDO:equivalentTo"}
xref: UMLS:CN202159 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:2611"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202159
property_value: exactMatch Orphanet:2611

[Term]
id: MONDO:0016832
name: distal 7q11.23 microduplication syndrome
def: "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." [Orphanet:261102]
subset: ordo_malformation_syndrome {source="Orphanet:261102"}
synonym: "distal dup(7)(q11.23)" EXACT [Orphanet:261102]
synonym: "distal trisomy 7q11.23" EXACT [Orphanet:261102]
synonym: "Dup7q11.23D" EXACT [Orphanet:261102]
xref: ICD10:Q92.3 {source="ORDO:261102/attributed", source="ORDO:261102/ntbt", source="Orphanet:261102"}
xref: Orphanet:261102 {source="MONDO:equivalentTo"}
xref: UMLS:CN202160 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016958 {source="MONDOLEX:0016832", source="Orphanet:261102"} ! partial duplication of the long arm of chromosome 7
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202160
property_value: exactMatch Orphanet:261102

[Term]
id: MONDO:0016833
name: 14q12 microdeletion syndrome
def: "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." [Orphanet:261144]
subset: ordo_malformation_syndrome {source="Orphanet:261144"}
synonym: "Del(14)(q12)" EXACT [Orphanet:261144]
synonym: "monosomy 14q12" EXACT [Orphanet:261144]
xref: ICD10:Q93.5 {source="ORDO:261144/attributed", source="ORDO:261144/ntbt", source="Orphanet:261144"}
xref: Orphanet:261144 {source="MONDO:equivalentTo"}
xref: SCTID:719574007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
xref: UMLS:C4305240 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202163 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016912 {source="Orphanet:261144"} ! partial deletion of the long arm of chromosome 14
property_value: exactMatch http://identifiers.org/snomedct/719574007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202163
property_value: exactMatch Orphanet:261144

[Term]
id: MONDO:0016834
name: 16p11.2p12.2 microduplication syndrome
def: "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described." [Orphanet:261204]
subset: ordo_malformation_syndrome {source="Orphanet:261204"}
synonym: "dup(16)(p11.2p12.2)" EXACT [Orphanet:261204]
synonym: "trisomy 16p11.2p12.2" EXACT [Orphanet:261204]
xref: ICD10:Q92.3 {source="ORDO:261204/attributed", source="ORDO:261204/ntbt", source="Orphanet:261204"}
xref: Orphanet:261204 {source="MONDO:equivalentTo"}
xref: SCTID:733518000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518821 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202168 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016949 {source="MONDOLEX:0016834", source="Orphanet:261204"} ! partial duplication of the short arm of chromosome 16
property_value: exactMatch http://identifiers.org/snomedct/733518000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202168
property_value: exactMatch Orphanet:261204

[Term]
id: MONDO:0016835
name: 14q11.2 microduplication syndrome
def: "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." [Orphanet:261229]
subset: ordo_malformation_syndrome {source="Orphanet:261229"}
synonym: "dup(14)(q11.2)" EXACT [Orphanet:261229]
synonym: "trisomy 14q11.2" EXACT [Orphanet:261229]
xref: ICD10:Q92.3 {source="ORDO:261229/attributed", source="ORDO:261229/ntbt", source="Orphanet:261229"}
xref: Orphanet:261229 {source="MONDO:equivalentTo"}
xref: UMLS:CN202171 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016964 {source="Orphanet:261229"} ! partial duplication of the long arm of chromosome 14
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202171
property_value: exactMatch Orphanet:261229

[Term]
id: MONDO:0016836
name: 16p13.11 microdeletion syndrome
def: "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." [Orphanet:261236]
subset: ordo_malformation_syndrome {source="Orphanet:261236"}
synonym: "Del(16)(p13.11)" EXACT [Orphanet:261236]
synonym: "monosomy 16p13.11" EXACT [Orphanet:261236]
xref: ICD10:Q93.5 {source="ORDO:261236/attributed", source="ORDO:261236/ntbt", source="Orphanet:261236"}
xref: Orphanet:261236 {source="MONDO:equivalentTo"}
xref: SCTID:719577000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304596 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202172 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016894 {source="Orphanet:261236"} ! partial deletion of the short arm of chromosome 16
property_value: exactMatch http://identifiers.org/snomedct/719577000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304596
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202172
property_value: exactMatch Orphanet:261236

[Term]
id: MONDO:0016837
name: 16p13.11 microduplication syndrome
def: "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." [Orphanet:261243]
subset: gard_rare {source="GARD:0013392"}
subset: ordo_malformation_syndrome {source="Orphanet:261243"}
synonym: "dup(16)(p13.11)" EXACT [Orphanet:261243]
synonym: "trisomy 16p13.11" EXACT [Orphanet:261243]
xref: GARD:0013392 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:261243/attributed", source="ORDO:261243/ntbt", source="Orphanet:261243"}
xref: Orphanet:261243 {source="MONDO:equivalentTo"}
xref: SCTID:719578005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304595 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202173 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016949 {source="MONDOLEX:0016837", source="Orphanet:261243"} ! partial duplication of the short arm of chromosome 16
property_value: exactMatch http://identifiers.org/snomedct/719578005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202173
property_value: exactMatch Orphanet:261243
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome xsd:anyURI {source="GARD:0013392"}

[Term]
id: MONDO:0016838
name: 16q24.3 microdeletion syndrome
def: "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." [Orphanet:261250]
subset: gard_rare {source="GARD:0010935"}
subset: ordo_malformation_syndrome {source="Orphanet:261250"}
synonym: "chromosome 16q24.3 microdeletion syndrome" RELATED [GARD:0010935]
synonym: "Del(16)(q24.3)" EXACT [Orphanet:261250]
synonym: "monosomy 16q24.3" EXACT [Orphanet:261250]
xref: GARD:0010935 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:261250", source="ORDO:261250/attributed", source="ORDO:261250/ntbt"}
xref: Orphanet:261250 {source="MONDO:equivalentTo"}
xref: SCTID:719580004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304594 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202174 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016914 {source="Orphanet:261250"} ! partial deletion of the long arm of chromosome 16
property_value: exactMatch http://identifiers.org/snomedct/719580004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202174
property_value: exactMatch Orphanet:261250
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome xsd:anyURI {source="GARD:0010935"}

[Term]
id: MONDO:0016839
name: distal 17p13.3 microdeletion syndrome
def: "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." [Orphanet:261257]
subset: ordo_malformation_syndrome {source="Orphanet:261257"}
synonym: "distal del(17)(p13.3 )" EXACT [Orphanet:261257]
synonym: "distal monosomy 17p13.3" EXACT [Orphanet:261257]
xref: ICD10:Q93.5 {source="ORDO:261257/attributed", source="ORDO:261257/ntbt", source="Orphanet:261257"}
xref: Orphanet:261257 {source="MONDO:equivalentTo"}
xref: SCTID:764696007 {source="MONDO:equivalentTo"}
xref: UMLS:CN202175 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016895 {source="Orphanet:261257"} ! partial monosomy of the short arm of chromosome 17
property_value: exactMatch http://identifiers.org/snomedct/764696007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202175
property_value: exactMatch Orphanet:261257

[Term]
id: MONDO:0016840
name: trisomy 17p
def: "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." [Orphanet:261290]
subset: ordo_malformation_syndrome {source="Orphanet:261290"}
synonym: "17p duplication" RELATED [GARD:0005318]
synonym: "17p trisomy" RELATED [GARD:0005318]
synonym: "chromosome 17p duplication" RELATED [GARD:0005318]
synonym: "dup(17p)" EXACT [Orphanet:261290]
synonym: "Duplication 17p" RELATED [GARD:0005318]
synonym: "partial trisomy 17p" RELATED [GARD:0005318]
synonym: "trisomy type 17p" EXACT [MONDORULE:4, Orphanet:261290]
xref: GARD:0005318 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q92.2 {source="ORDO:261290/attributed", source="ORDO:261290/ntbt", source="Orphanet:261290"}
xref: MESH:C538048 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:261290 {source="MONDO:equivalentTo"}
xref: SCTID:717049005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0795865 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:261290/e", source="Orphanet:261290"}
is_a: MONDO:0016950 {source="Orphanet:261290"} ! partial duplication of the short arm of chromosome 17
property_value: exactMatch http://identifiers.org/mesh/C538048
property_value: exactMatch http://identifiers.org/snomedct/717049005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795865
property_value: exactMatch Orphanet:261290

[Term]
id: MONDO:0016841
name: 20p12.3 microdeletion syndrome
def: "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism." [Orphanet:261295]
subset: gard_rare {source="GARD:0012492"}
subset: ordo_malformation_syndrome {source="Orphanet:261295"}
synonym: "Del(20)(p12.3)" EXACT [Orphanet:261295]
synonym: "monosomy 20p12.3" EXACT [Orphanet:261295]
xref: GARD:0012492 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:261295", source="ORDO:261295/attributed", source="ORDO:261295/ntbt"}
xref: Orphanet:261295 {source="MONDO:equivalentTo"}
xref: SCTID:719650004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304539 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202180 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016898 {source="MONDOLEX:0016841", source="Orphanet:261295"} ! partial monosomy of the short arm of chromosome 20
property_value: exactMatch http://identifiers.org/snomedct/719650004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202180
property_value: exactMatch Orphanet:261295
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome xsd:anyURI {source="GARD:0012492"}

[Term]
id: MONDO:0016842
name: paternal 20q13.2q13.3 microdeletion syndrome
def: "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." [Orphanet:261304]
subset: ordo_malformation_syndrome {source="Orphanet:261304"}
synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [Orphanet:261304]
synonym: "paternal del(20)(q13.2q13.3)" EXACT [Orphanet:261304]
synonym: "paternal monosomy 20q13.2-q13.3" EXACT [Orphanet:261304]
synonym: "paternal monosomy 20q13.2q13.3" EXACT [Orphanet:261304]
xref: ICD10:Q93.5 {source="ORDO:261304/attributed", source="ORDO:261304/ntbt", source="Orphanet:261304"}
xref: Orphanet:261304 {source="MONDO:equivalentTo"}
xref: SCTID:724070005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510306 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202182 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016918 {source="Orphanet:261304"} ! partial deletion of the long arm of chromosome 20
property_value: exactMatch http://identifiers.org/snomedct/724070005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202182
property_value: exactMatch Orphanet:261304

[Term]
id: MONDO:0016843
name: 20q13.33 microdeletion syndrome
def: "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated." [Orphanet:261311]
subset: ordo_malformation_syndrome {source="Orphanet:261311"}
synonym: "Del(20)(q13.33)" EXACT [Orphanet:261311]
synonym: "monosomy 20q13.33" EXACT [Orphanet:261311]
xref: ICD10:Q93.5 {source="ORDO:261311/attributed", source="ORDO:261311/ntbt", source="Orphanet:261311"}
xref: Orphanet:261311 {source="MONDO:equivalentTo"}
xref: SCTID:733520002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518823 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202183 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016918 {source="Orphanet:261311"} ! partial deletion of the long arm of chromosome 20
property_value: exactMatch http://identifiers.org/snomedct/733520002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202183
property_value: exactMatch Orphanet:261311

[Term]
id: MONDO:0016844
name: trisomy 20p
def: "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." [Orphanet:261318]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:261318"}
synonym: "20p duplication" RELATED [GARD:0005333]
synonym: "20p trisomy" RELATED [GARD:0005333]
synonym: "chromosome 20p duplication" RELATED [GARD:0005333]
synonym: "dup(20p)" EXACT [Orphanet:261318]
synonym: "Duplication 20p" RELATED [GARD:0005333]
synonym: "Duplication of 20p" EXACT [Orphanet:261318]
synonym: "partial duplication of chromosome 20p" EXACT [Orphanet:261318]
synonym: "partial duplication of the short arm of chromosome 20" EXACT [Orphanet:261318]
synonym: "partial trisomy 20p" RELATED [GARD:0005333]
synonym: "partial trisomy of chromosome 20p" EXACT [Orphanet:261318]
synonym: "partial trisomy of the short arm of chromosome 20" EXACT [Orphanet:261318]
synonym: "trisomy 20p" EXACT [GARD:0005333]
synonym: "trisomy type 20p" EXACT [MONDORULE:4, Orphanet:261318]
xref: GARD:0005333 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.2 {source="ORDO:261318/attributed", source="ORDO:261318/ntbt", source="Orphanet:261318"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535371 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:261318 {source="MONDO:equivalentTo"}
xref: SCTID:111311004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016938 {source="Orphanet:261318"} ! partial trisomy of chromosome 20
property_value: exactMatch http://identifiers.org/mesh/C535371
property_value: exactMatch http://identifiers.org/snomedct/111311004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930888
property_value: exactMatch Orphanet:261318

[Term]
id: MONDO:0016845
name: 21q22.11q22.12 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:261323"}
synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [Orphanet:261323]
synonym: "Del(21)(q22.11q22.12)" EXACT [Orphanet:261323]
synonym: "monosomy 21q22.11-q22.12" EXACT [Orphanet:261323]
synonym: "monosomy 21q22.11q22.12" EXACT [Orphanet:261323]
xref: ICD10:Q93.5 {source="ORDO:261323/attributed", source="ORDO:261323/ntbt", source="Orphanet:261323"}
xref: Orphanet:261323 {source="MONDO:equivalentTo"}
xref: UMLS:CN202185 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016919 {source="Orphanet:261323"} ! partial deletion of the long arm of chromosome 21
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202185
property_value: exactMatch Orphanet:261323

[Term]
id: MONDO:0016846
name: distal 22q11.2 microduplication syndrome
def: "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." [Orphanet:261337]
subset: ordo_malformation_syndrome {source="Orphanet:261337"}
synonym: "distal dup(22)(q11.2)" EXACT [Orphanet:261337]
synonym: "distal trisomy 22q11.2" EXACT [Orphanet:261337]
xref: ICD10:Q92.3 {source="ORDO:261337/attributed", source="ORDO:261337/ntbt", source="Orphanet:261337"}
xref: Orphanet:261337 {source="MONDO:equivalentTo"}
xref: SCTID:764524005 {source="MONDO:equivalentTo"}
xref: UMLS:CN202187 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016972 {source="Orphanet:261337"} ! partial duplication of the long arm of chromosome 22
property_value: exactMatch http://identifiers.org/snomedct/764524005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202187
property_value: exactMatch Orphanet:261337

[Term]
id: MONDO:0016847
name: trisomy 1q
def: "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." [Orphanet:261344]
subset: ordo_malformation_syndrome {source="Orphanet:261344"}
synonym: "Duplication 1q" EXACT [Orphanet:261344]
synonym: "trisomy type 1q" EXACT [MONDORULE:4, Orphanet:261344]
xref: ICD10:Q92.2 {source="ORDO:261344/attributed", source="ORDO:261344/ntbt", source="Orphanet:261344"}
xref: Orphanet:261344 {source="MONDO:equivalentTo"}
xref: SCTID:768927001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016952 {source="Orphanet:261344"} ! partial duplication of the long arm of chromosome 1
property_value: exactMatch http://identifiers.org/snomedct/768927001
property_value: exactMatch Orphanet:261344

[Term]
id: MONDO:0016848
name: juvenile temporal arteritis
def: "Juvenile temporal arteritis is a rare form of vasculitis , a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis , this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs ." [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis]
subset: gard_rare {source="GARD:0003068"}
subset: ordo_disease {source="Orphanet:26137"}
synonym: "JGCA" RELATED [GARD:0003068]
synonym: "JPMR" RELATED [GARD:0003068]
synonym: "JTA" EXACT [Orphanet:26137]
synonym: "juvenile cranial arteritis" RELATED [GARD:0003068]
synonym: "juvenile giant cell arteritis" RELATED [GARD:0003068]
synonym: "juvenile polymyalgia rheumatica" RELATED [GARD:0003068]
synonym: "non-giant cell granulomatous temporal arteritis with eosinophilia" EXACT [Orphanet:26137]
xref: GARD:0003068 {source="MONDO:equivalentTo"}
xref: ICD10:L95.8 {source="ORDO:26137/ntbt", source="Orphanet:26137"}
xref: Orphanet:26137 {source="MONDO:equivalentTo"}
xref: SCTID:722020006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0751547 {source="MONDO:equivalentTo", source="Orphanet:26137"}
is_a: MONDO:0015488 {source="Orphanet:26137"} ! predominantly large-vessel vasculitis
property_value: exactMatch http://identifiers.org/snomedct/722020006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751547
property_value: exactMatch Orphanet:26137
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis xsd:anyURI {source="GARD:0003068"}

[Term]
id: MONDO:0016849
name: obsolete Nakajo-Nishimura syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1271 xsd:string
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0016850
name: atypical Norrie disease due to monosomy Xp11.3
def: "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." [Orphanet:261501]
subset: ordo_malformation_syndrome {source="Orphanet:261501"}
synonym: "atypical Norrie disease due to del(X)(p11.3)" EXACT [Orphanet:261501]
synonym: "atypical Norrie disease due to Xp11.3 microdeletion" EXACT [Orphanet:261501]
xref: ICD10:H35.5 {source="ORDO:261501/attributed", source="ORDO:261501/ntbt", source="MONDO:relatedTo", source="Orphanet:261501"}
xref: Orphanet:261501 {source="MONDO:equivalentTo"}
xref: SCTID:733626002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202196 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017004 {source="Orphanet:261501"} ! partial monosomy of the short arm of chromosome X
property_value: exactMatch http://identifiers.org/snomedct/733626002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202196
property_value: exactMatch Orphanet:261501

[Term]
id: MONDO:0016851
name: maternal uniparental disomy of chromosome X
subset: ordo_malformation_syndrome {source="Orphanet:261519"}
synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261519]
synonym: "UPD(X)mat" EXACT [Orphanet:261519]
xref: ICD10:Q99.8 {source="Orphanet:261519", source="ORDO:261519/attributed", source="ORDO:261519/ntbt"}
xref: Orphanet:261519 {source="MONDO:equivalentTo"}
is_a: MONDO:0017011 {source="Orphanet:261519"} ! uniparental disomy of chromosome X
property_value: exactMatch Orphanet:261519

[Term]
id: MONDO:0016852
name: paternal uniparental disomy of chromosome X
subset: ordo_malformation_syndrome {source="Orphanet:261524"}
synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261524]
synonym: "UPD(X)pat" EXACT [Orphanet:261524]
xref: ICD10:Q99.8 {source="ORDO:261524/attributed", source="ORDO:261524/ntbt", source="Orphanet:261524"}
xref: Orphanet:261524 {source="MONDO:equivalentTo"}
is_a: MONDO:0017011 {source="Orphanet:261524"} ! uniparental disomy of chromosome X
property_value: exactMatch Orphanet:261524

[Term]
id: MONDO:0016853
name: ring chromosome Y
def: "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." [Orphanet:261529]
subset: ordo_malformation_syndrome {source="Orphanet:261529"}
synonym: "r(Y)" EXACT [Orphanet:261529]
synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529]
synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529]
xref: ICD10:Q98.6 {source="Orphanet:261529", source="ORDO:261529/attributed", source="ORDO:261529/ntbt"}
xref: Orphanet:261529 {source="MONDO:equivalentTo"}
xref: SCTID:763407008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020061 {source="Orphanet:261529"} ! chromosome Y structural anomaly
property_value: exactMatch http://identifiers.org/snomedct/763407008
property_value: exactMatch Orphanet:261529

[Term]
id: MONDO:0016854
name: 49,XXXYY syndrome
def: "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome . The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia , hypogonadism , and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction ) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome]
subset: gard_rare {source="GARD:0010922"}
subset: ordo_malformation_syndrome {source="Orphanet:261534"}
synonym: "49, XXXYY syndrome" RELATED [GARD:0010922]
synonym: "XXXYY syndrome" RELATED [GARD:0010922]
xref: GARD:0010922 {source="MONDO:equivalentTo"}
xref: ICD10:Q98.8 {source="ORDO:261534/attributed", source="ORDO:261534/ntbt", source="Orphanet:261534"}
xref: Orphanet:261534 {source="MONDO:equivalentTo"}
xref: UMLS:CN202197 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017006 {source="Orphanet:261534"} ! X and Y chromosomal anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202197
property_value: exactMatch Orphanet:261534
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome xsd:anyURI {source="GARD:0010922"}

[Term]
id: MONDO:0016855
name: Mowat-Wilson syndrome due to monosomy 2q22
subset: ordo_etiological_subtype {source="Orphanet:261537"}
synonym: "Hirschsprung disease and intellectual disability due to 2q22 microdeletion" EXACT [Orphanet:261537]
synonym: "Hirschsprung disease and intellectual disability due to del(2)(q22)" EXACT [Orphanet:261537]
synonym: "Hirschsprung disease and intellectual disability due to monosomy 2q22" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to 2q22 microdeletion" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to del(2)q(22)" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7, Orphanet:261537]
xref: ICD10:Q43.1 {source="ORDO:261537/attributed", source="ORDO:261537/ntbt", source="Orphanet:261537"}
xref: Orphanet:261537 {source="MONDO:equivalentTo"}
xref: UMLS:CN202198 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009341 {source="Orphanet:261537"} ! Mowat-Wilson syndrome
is_a: MONDO:0016901 {source="MONDOLEX:0016855", source="Orphanet:261537"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202198
property_value: exactMatch Orphanet:261537

[Term]
id: MONDO:0016856
name: Mowat-Wilson syndrome due to a ZEB2 point mutation
subset: ordo_etiological_subtype {source="Orphanet:261552"}
synonym: "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation" EXACT [Orphanet:261552]
xref: ICD10:Q43.1 {source="ORDO:261552/attributed", source="ORDO:261552/ntbt", source="Orphanet:261552"}
xref: Orphanet:261552 {source="MONDO:equivalentTo"}
xref: UMLS:CN202199 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009341 {source="Orphanet:261552"} ! Mowat-Wilson syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202199
property_value: exactMatch Orphanet:261552

[Term]
id: MONDO:0016857
name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES (see this term), which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." [Orphanet:261559]
subset: ordo_etiological_subtype {source="Orphanet:261559"}
xref: ICD10:Q10.3 {source="ORDO:261559/attributed", source="ORDO:261559/ntbt", source="Orphanet:261559"}
xref: Orphanet:261559 {source="MONDO:equivalentTo"}
xref: UMLS:CN202200 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007201 {source="Orphanet:261559"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
is_a: MONDO:0016902 {source="Orphanet:261559"} ! partial deletion of the long arm of chromosome 3
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202200
property_value: exactMatch Orphanet:261559

[Term]
id: MONDO:0016858
name: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
def: "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." [Orphanet:261572]
subset: ordo_etiological_subtype {source="Orphanet:261572"}
synonym: "blepharophimosis types 1 and 2 due to a point mutation" EXACT [Orphanet:261572]
xref: ICD10:Q10.3 {source="Orphanet:261572", source="ORDO:261572/attributed", source="ORDO:261572/ntbt"}
xref: Orphanet:261572 {source="MONDO:equivalentTo"}
xref: UMLS:CN202201 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007201 {source="Orphanet:261572"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202201
property_value: exactMatch Orphanet:261572

[Term]
id: MONDO:0016859
name: blepharophimosis-epicanthus inversus-ptosis due to copy number variations
def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." [Orphanet:261579]
subset: ordo_etiological_subtype {source="Orphanet:261579"}
synonym: "blepharophimosis types 1 and 2 due to copy number variations" EXACT [Orphanet:261579]
synonym: "blepharophimosis-epicanthus inversus-ptosis due to a CNV" EXACT [Orphanet:261579]
xref: ICD10:Q10.3 {source="ORDO:261579/attributed", source="ORDO:261579/ntbt", source="Orphanet:261579"}
xref: Orphanet:261579 {source="MONDO:equivalentTo"}
xref: UMLS:CN202202 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007201 {source="Orphanet:261579"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202202
property_value: exactMatch Orphanet:261579

[Term]
id: MONDO:0016860
name: familial adenomatous polyposis due to 5q22.2 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:261584"}
synonym: "colorectal adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "familial adenomatous polyposis due to del(5)(q22.2)" EXACT [Orphanet:261584]
synonym: "familial adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "familial polyposis coli due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "FAP due to monosomy 5q22.2" EXACT [Orphanet:261584]
xref: ICD10:D12.6 {source="ORDO:261584/attributed", source="ORDO:261584/ntbt", source="Orphanet:261584"}
xref: Orphanet:261584 {source="MONDO:equivalentTo"}
xref: UMLS:CN202203 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016904 {source="Orphanet:261584"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0021055 {source="Orphanet:261584"} ! classic familial adenomatous polyposis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202203
property_value: exactMatch Orphanet:261584

[Term]
id: MONDO:0016861
name: Alagille syndrome due to 20p12 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:261600"}
synonym: "Alagille syndrome due to del(20)(p12)" EXACT [Orphanet:261600]
synonym: "Alagille syndrome due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "Alagille-Watson syndrome due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "Arteriohepatic dysplasia due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "syndromic bile duct paucity due to monosomy 20p12" EXACT [Orphanet:261600]
xref: ICD10:Q44.7 {source="ORDO:261600/attributed", source="ORDO:261600/ntbt", source="Orphanet:261600"}
xref: Orphanet:261600 {source="MONDO:equivalentTo"}
xref: UMLS:CN202205 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007318 {source="Orphanet:261600"} ! Alagille syndrome
is_a: MONDO:0016898 {source="MONDOLEX:0016861", source="Orphanet:261600"} ! partial monosomy of the short arm of chromosome 20
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202205
property_value: exactMatch Orphanet:261600

[Term]
id: MONDO:0016862
name: Alagille syndrome due to a JAG1 point mutation
subset: ordo_etiological_subtype {source="Orphanet:261619"}
synonym: "Alagille syndrome 1" RELATED [MONDO:Lexical, OMIM:118450]
synonym: "Alagille syndrome 1; ALGS1" RELATED [OMIM:118450]
synonym: "Alagille syndrome type 1" EXACT [MONDORULE:1, OMIM:118450]
synonym: "Alagille-Watson syndrome" RELATED [OMIM:118450]
synonym: "Alagille-Watson syndrome due to a JAG1 point mutation" EXACT [Orphanet:261619]
synonym: "ALGS1" RELATED [MONDO:Lexical, OMIM:118450]
synonym: "arteriohepatic dysplasia" RELATED [OMIM:118450]
synonym: "arteriohepatic dysplasia due to a JAG1 point mutation" EXACT [Orphanet:261619]
synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [OMIM:118450]
synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [OMIM:118450]
synonym: "syndromic bile duct paucity due to a JAG1 point mutation" EXACT [Orphanet:261619]
xref: ICD10:Q44.7 {source="Orphanet:261619", source="ORDO:261619/attributed", source="ORDO:261619/ntbt"}
xref: OMIM:118450 {source="Orphanet:261619", source="MONDO:equivalentTo", source="ORDO:261619/ntbt"}
xref: Orphanet:261619 {source="MONDO:equivalentTo"}
xref: UMLS:C1956125 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118450"}
xref: UMLS:CN202206 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007318 {source="OMIM:118450", source="Orphanet:261619"} ! Alagille syndrome
property_value: exactMatch http://identifiers.org/omim/118450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202206
property_value: exactMatch Orphanet:261619

[Term]
id: MONDO:0016863
name: Okihiro syndrome due to 20q13 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:261638"}
synonym: "Duane-radial ray syndrome due to monosomy 20q13" EXACT [Orphanet:261638]
synonym: "Okihiro syndrome due to del(20)(q13)" EXACT [Orphanet:261638]
synonym: "Okihiro syndrome due to monosomy 20q13" EXACT [Orphanet:261638]
xref: ICD10:Q87.8 {source="Orphanet:261638", source="ORDO:261638/attributed", source="ORDO:261638/ntbt"}
xref: Orphanet:261638 {source="MONDO:equivalentTo"}
xref: UMLS:CN202208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011812 {source="Orphanet:261638"} ! Duane-radial ray syndrome
is_a: MONDO:0016918 {source="Orphanet:261638"} ! partial deletion of the long arm of chromosome 20
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202208
property_value: exactMatch Orphanet:261638

[Term]
id: MONDO:0016864
name: Okihiro syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:261647"}
synonym: "Duane-radial ray syndrome due to a point mutation" EXACT [Orphanet:261647]
xref: ICD10:Q87.8 {source="ORDO:261647/attributed", source="ORDO:261647/ntbt", source="Orphanet:261647"}
xref: Orphanet:261647 {source="MONDO:equivalentTo"}
xref: UMLS:CN202209 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011812 {source="Orphanet:261647"} ! Duane-radial ray syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202209
property_value: exactMatch Orphanet:261647

[Term]
id: MONDO:0016865
name: Kleefstra syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:261652"}
xref: ICD10:Q87.8 {source="ORDO:261652/attributed", source="ORDO:261652/ntbt", source="Orphanet:261652"}
xref: Orphanet:261652 {source="MONDO:equivalentTo"}
xref: UMLS:CN202210 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012455 {source="Orphanet:261652"} ! Kleefstra syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202210
property_value: exactMatch Orphanet:261652

[Term]
id: MONDO:0016866
name: partial deletion of chromosome 1
subset: ordo_group_of_disorders {source="Orphanet:261766"}
synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261766]
synonym: "partial monosomy of chromosome 1" EXACT [Orphanet:261766]
xref: ICD10:Q93.5 {source="ORDO:261766/attributed", source="ORDO:261766/ntbt", source="Orphanet:261766"}
xref: Orphanet:261766 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261766"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261766

[Term]
id: MONDO:0016867
name: partial deletion of chromosome 2
subset: ordo_group_of_disorders {source="Orphanet:261771"}
synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261771]
synonym: "partial monosomy of chromosome 2" EXACT [Orphanet:261771]
xref: ICD10:Q93.5 {source="ORDO:261771/attributed", source="ORDO:261771/ntbt", source="Orphanet:261771"}
xref: Orphanet:261771 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261771"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261771

[Term]
id: MONDO:0016868
name: partial deletion of chromosome 3
subset: ordo_group_of_disorders {source="Orphanet:261776"}
synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261776]
synonym: "partial monosomy of chromosome 3" EXACT [Orphanet:261776]
xref: ICD10:Q93.5 {source="ORDO:261776/attributed", source="ORDO:261776/ntbt", source="Orphanet:261776"}
xref: Orphanet:261776 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261776"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261776

[Term]
id: MONDO:0016869
name: partial deletion of chromosome 4
subset: ordo_group_of_disorders {source="Orphanet:261781"}
synonym: "partial deletion of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261781]
synonym: "partial monosomy of chromosome 4" EXACT [Orphanet:261781]
xref: Orphanet:261781 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261781"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261781

[Term]
id: MONDO:0016870
name: partial deletion of chromosome 5
subset: ordo_group_of_disorders {source="Orphanet:261786"}
synonym: "partial deletion of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261786]
synonym: "partial monosomy of chromosome 5" EXACT [Orphanet:261786]
xref: Orphanet:261786 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261786"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261786

[Term]
id: MONDO:0016871
name: partial deletion of chromosome 6
subset: ordo_group_of_disorders {source="Orphanet:261791"}
synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261791]
synonym: "partial monosomy of chromosome 6" EXACT [Orphanet:261791]
xref: ICD10:Q93.5 {source="Orphanet:261791", source="ORDO:261791/attributed", source="ORDO:261791/ntbt"}
xref: Orphanet:261791 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261791"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261791

[Term]
id: MONDO:0016872
name: partial deletion of chromosome 7
subset: ordo_group_of_disorders {source="Orphanet:261796"}
synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261796]
synonym: "partial monosomy of chromosome 7" EXACT [Orphanet:261796]
xref: ICD10:Q93.5 {source="ORDO:261796/attributed", source="ORDO:261796/ntbt", source="Orphanet:261796"}
xref: Orphanet:261796 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261796"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261796

[Term]
id: MONDO:0016873
name: partial deletion of chromosome 8
subset: ordo_group_of_disorders {source="Orphanet:261801"}
synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261801]
synonym: "partial monosomy of chromosome 8" EXACT [Orphanet:261801]
xref: ICD10:Q93.5 {source="ORDO:261801/attributed", source="ORDO:261801/ntbt", source="Orphanet:261801"}
xref: Orphanet:261801 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261801"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261801

[Term]
id: MONDO:0016874
name: partial deletion of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:261806"}
synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261806]
synonym: "partial monosomy of chromosome 9" EXACT [Orphanet:261806]
xref: ICD10:Q93.5 {source="Orphanet:261806", source="ORDO:261806/attributed", source="ORDO:261806/ntbt"}
xref: Orphanet:261806 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261806"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261806

[Term]
id: MONDO:0016875
name: partial deletion of chromosome 10
subset: ordo_group_of_disorders
synonym: "partial monosomy of chromosome 10" EXACT [Orphanet:261811]
xref: ICD10:Q93.5 {source="Orphanet:261811"}
xref: Orphanet:261811 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261811"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261811

[Term]
id: MONDO:0016876
name: partial deletion of chromosome 11
subset: ordo_group_of_disorders {source="Orphanet:261816"}
synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261816]
synonym: "partial monosomy of chromosome 11" EXACT [Orphanet:261816]
xref: ICD10:Q93.5 {source="Orphanet:261816", source="ORDO:261816/attributed", source="ORDO:261816/ntbt"}
xref: Orphanet:261816 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261816"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261816

[Term]
id: MONDO:0016877
name: partial deletion of the long arm of chromosome 12
subset: ordo_group_of_disorders {source="Orphanet:261821"}
synonym: "partial deletion of chromosome 12q" EXACT [Orphanet:261821]
synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:261821]
synonym: "partial monosomy of chromosome 12q" EXACT [Orphanet:261821]
synonym: "partial monosomy of the long arm of chromosome 12" EXACT [Orphanet:261821]
xref: ICD10:Q93.5 {source="ORDO:261821/attributed", source="ORDO:261821/ntbt", source="Orphanet:261821"}
xref: Orphanet:261821 {source="MONDO:equivalentTo"}
is_a: MONDO:0017277 {source="Orphanet:261821"} ! partial deletion of chromosome 12
property_value: exactMatch Orphanet:261821

[Term]
id: MONDO:0016878
name: partial deletion of chromosome 16
subset: ordo_group_of_disorders {source="Orphanet:261826"}
synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261826]
synonym: "partial monosomy of chromosome 16" EXACT [Orphanet:261826]
xref: ICD10:Q93.5 {source="Orphanet:261826", source="ORDO:261826/attributed", source="ORDO:261826/ntbt"}
xref: Orphanet:261826 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261826"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261826

[Term]
id: MONDO:0016879
name: partial deletion of chromosome 17
subset: ordo_group_of_disorders {source="Orphanet:261831"}
synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261831]
synonym: "partial monosomy of chromosome 17" EXACT [Orphanet:261831]
xref: ICD10:Q93.5 {source="ORDO:261831/attributed", source="ORDO:261831/ntbt", source="Orphanet:261831"}
xref: Orphanet:261831 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261831"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261831

[Term]
id: MONDO:0016880
name: partial deletion of chromosome 18
subset: ordo_group_of_disorders {source="Orphanet:261836"}
synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261836]
synonym: "partial monosomy of chromosome 18" EXACT [Orphanet:261836]
xref: ICD10:Q93.5 {source="Orphanet:261836", source="ORDO:261836/attributed", source="ORDO:261836/ntbt"}
xref: Orphanet:261836 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261836"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261836

[Term]
id: MONDO:0016881
name: partial deletion of chromosome 19
subset: ordo_group_of_disorders {source="Orphanet:261841"}
synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261841]
synonym: "partial monosomy of chromosome 19" EXACT [Orphanet:261841]
xref: ICD10:Q93.5 {source="ORDO:261841/attributed", source="ORDO:261841/ntbt", source="Orphanet:261841"}
xref: Orphanet:261841 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261841"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261841

[Term]
id: MONDO:0016882
name: partial deletion of chromosome 20
subset: ordo_group_of_disorders {source="Orphanet:261846"}
synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261846]
synonym: "partial monosomy of chromosome 20" EXACT [Orphanet:261846]
xref: ICD10:Q93.5 {source="ORDO:261846/attributed", source="ORDO:261846/ntbt", source="Orphanet:261846"}
xref: Orphanet:261846 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:261846"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:261846

[Term]
id: MONDO:0016883
name: partial deletion of the short arm of chromosome 1
def: "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003730]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:261857"}
synonym: "1p deletion" RELATED [GARD:0003730]
synonym: "1p monosomy" RELATED [GARD:0003730]
synonym: "chromosome 1p deletion" RELATED [GARD:0003730]
synonym: "del(1p)" EXACT [NCIT:C36501]
synonym: "deletion 1p" RELATED [GARD:0003730]
synonym: "loss of chromosome 1p" EXACT [NCIT:C36501]
synonym: "monosomy 1p" RELATED [GARD:0003730]
synonym: "partial deletion of chromosome 1p" EXACT [Orphanet:261857]
synonym: "partial deletion of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261857]
synonym: "partial monosomy 1p" RELATED [GARD:0003730]
synonym: "partial monosomy of chromosome 1p" EXACT [Orphanet:261857]
synonym: "partial monosomy of the short arm of chromosome 1" EXACT [Orphanet:261857]
xref: GARD:0003730 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:261857/attributed", source="ORDO:261857/ntbt", source="Orphanet:261857"}
xref: MESH:C535591 {source="MONDO:equivalentTo"}
xref: NCIT:C36501 {source="MONDO:equivalentTo"}
xref: Orphanet:261857 {source="MONDO:equivalentTo"}
xref: UMLS:C0795796 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003730", source="MONDO:equivalentTo", source="Orphanet:261857"}
is_a: MONDO:0016866 {source="Orphanet:261857"} ! partial deletion of chromosome 1
property_value: exactMatch http://identifiers.org/mesh/C535591
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795796
property_value: exactMatch NCIT:C36501
property_value: exactMatch Orphanet:261857

[Term]
id: MONDO:0016884
name: partial deletion of the short arm of chromosome 2
subset: ordo_group_of_disorders {source="Orphanet:261866"}
synonym: "partial deletion of chromosome 2p" EXACT [Orphanet:261866]
synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261866]
synonym: "partial monosomy of chromosome 2p" EXACT [Orphanet:261866]
synonym: "partial monosomy of the short arm of chromosome 2" EXACT [Orphanet:261866]
xref: ICD10:Q93.5 {source="Orphanet:261866", source="ORDO:261866/attributed", source="ORDO:261866/ntbt"}
xref: Orphanet:261866 {source="MONDO:equivalentTo"}
is_a: MONDO:0016867 {source="Orphanet:261866"} ! partial deletion of chromosome 2
property_value: exactMatch Orphanet:261866

[Term]
id: MONDO:0016885
name: partial deletion of the short arm of chromosome 3
subset: ordo_group_of_disorders {source="Orphanet:261875"}
synonym: "partial deletion of chromosome 3p" EXACT [Orphanet:261875]
synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261875]
synonym: "partial monosomy of chromosome 3p" EXACT [Orphanet:261875]
synonym: "partial monosomy of the short arm of chromosome 3" EXACT [Orphanet:261875]
xref: ICD10:Q93.5 {source="ORDO:261875/attributed", source="ORDO:261875/ntbt", source="Orphanet:261875"}
xref: Orphanet:261875 {source="MONDO:equivalentTo"}
is_a: MONDO:0016868 {source="Orphanet:261875"} ! partial deletion of chromosome 3
property_value: exactMatch Orphanet:261875

[Term]
id: MONDO:0016886
name: partial deletion of the short arm of chromosome 4
subset: ordo_group_of_disorders {source="Orphanet:261884"}
synonym: "partial deletion of chromosome 4p" EXACT [Orphanet:261884]
synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261884]
synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884]
synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884]
xref: ICD10:Q93.3 {source="MONDO:relatedTo", source="Orphanet:261884", source="ORDO:261884/e", source="ORDO:261884/specific"}
xref: Orphanet:261884 {source="MONDO:equivalentTo"}
is_a: MONDO:0016869 {source="Orphanet:261884"} ! partial deletion of chromosome 4
property_value: exactMatch Orphanet:261884

[Term]
id: MONDO:0016887
name: partial deletion of the short arm of chromosome 5
subset: ordo_group_of_disorders {source="Orphanet:261893"}
synonym: "partial deletion of chromosome 5p" EXACT [Orphanet:261893]
synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261893]
synonym: "partial monosomy of chromosome 5p" EXACT [Orphanet:261893]
synonym: "partial monosomy of the short arm of chromosome 5" EXACT [Orphanet:261893]
xref: ICD10:Q93.4 {source="Orphanet:261893", source="ORDO:261893/e", source="ORDO:261893/specific"}
xref: Orphanet:261893 {source="MONDO:equivalentTo"}
is_a: MONDO:0016870 {source="Orphanet:261893"} ! partial deletion of chromosome 5
property_value: exactMatch Orphanet:261893

[Term]
id: MONDO:0016888
name: partial deletion of the short arm of chromosome 6
subset: ordo_group_of_disorders {source="Orphanet:261902"}
synonym: "partial deletion of chromosome 6p" EXACT [Orphanet:261902]
synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261902]
synonym: "partial monosomy of chromosome 6p" EXACT [Orphanet:261902]
synonym: "partial monosomy of the short arm of chromosome 6" EXACT [Orphanet:261902]
xref: ICD10:Q93.5 {source="Orphanet:261902", source="ORDO:261902/attributed", source="ORDO:261902/ntbt"}
xref: Orphanet:261902 {source="MONDO:equivalentTo"}
is_a: MONDO:0016871 {source="Orphanet:261902"} ! partial deletion of chromosome 6
property_value: exactMatch Orphanet:261902

[Term]
id: MONDO:0016889
name: partial deletion of the short arm of chromosome 7
def: "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001346]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:261911"}
synonym: "7p deletion" RELATED [GARD:0001346]
synonym: "7p monosomy" RELATED [GARD:0001346]
synonym: "chromosome 7p deletion" RELATED [GARD:0001346]
synonym: "deletion 7p" RELATED [GARD:0001346]
synonym: "monosomy 7p" RELATED [GARD:0001346]
synonym: "partial deletion of chromosome 7p" EXACT [Orphanet:261911]
synonym: "partial deletion of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261911]
synonym: "partial monosomy 7p" RELATED [GARD:0001346]
synonym: "partial monosomy of chromosome 7p" EXACT [Orphanet:261911]
synonym: "partial monosomy of the short arm of chromosome 7" EXACT [Orphanet:261911]
xref: GARD:0001346 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:261911/attributed", source="ORDO:261911/ntbt", source="Orphanet:261911"}
xref: Orphanet:261911 {source="MONDO:equivalentTo"}
is_a: MONDO:0016872 {source="Orphanet:261911"} ! partial deletion of chromosome 7
property_value: exactMatch Orphanet:261911

[Term]
id: MONDO:0016890
name: partial deletion of the short arm of chromosome 8
def: "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003768]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:261920"}
synonym: "8p deletion" RELATED [GARD:0003768]
synonym: "8p monosomy" RELATED [GARD:0003768]
synonym: "chromosome 8p deletion" RELATED [GARD:0003768]
synonym: "deletion 8p" RELATED [GARD:0003768]
synonym: "monosomy 8p" RELATED [GARD:0003768]
synonym: "partial deletion of chromosome 8p" EXACT [Orphanet:261920]
synonym: "partial deletion of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261920]
synonym: "partial monosomy 8p" RELATED [GARD:0003768]
synonym: "partial monosomy of chromosome 8p" EXACT [Orphanet:261920]
synonym: "partial monosomy of the short arm of chromosome 8" EXACT [Orphanet:261920]
xref: GARD:0003768 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:261920/attributed", source="ORDO:261920/ntbt", source="Orphanet:261920"}
xref: MESH:C537826 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:261920 {source="MONDO:equivalentTo"}
is_a: MONDO:0016873 {source="Orphanet:261920"} ! partial deletion of chromosome 8
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795824
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931634
property_value: exactMatch http://identifiers.org/mesh/C537826
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931635
property_value: exactMatch Orphanet:261920

[Term]
id: MONDO:0016891
name: partial deletion of the short arm of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:261929"}
synonym: "partial deletion of chromosome 9p" EXACT [Orphanet:261929]
synonym: "partial deletion of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261929]
synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929]
synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929]
xref: ICD10:Q93.5 {source="Orphanet:261929", source="ORDO:261929/attributed", source="ORDO:261929/ntbt"}
xref: Orphanet:261929 {source="MONDO:equivalentTo"}
is_a: MONDO:0016874 {source="Orphanet:261929"} ! partial deletion of chromosome 9
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931695
property_value: exactMatch Orphanet:261929

[Term]
id: MONDO:0016892
name: partial deletion of the short arm of chromosome 10
subset: ordo_group_of_disorders {source="Orphanet:261938"}
synonym: "partial deletion of chromosome 10p" EXACT [Orphanet:261938]
synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:261938]
synonym: "partial monosomy of chromosome 10p" EXACT [Orphanet:261938]
synonym: "partial monosomy of the short arm of chromosome 10" EXACT [Orphanet:261938]
xref: ICD10:Q93.5 {source="Orphanet:261938", source="ORDO:261938/attributed", source="ORDO:261938/ntbt"}
xref: Orphanet:261938 {source="MONDO:equivalentTo"}
xref: UMLS:C0795836 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:261938", source="ORDO:261938/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016875 {source="Orphanet:261938"} ! partial deletion of chromosome 10
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795836
property_value: exactMatch Orphanet:261938

[Term]
id: MONDO:0016893
name: partial deletion of the short arm of chromosome 11
subset: ordo_group_of_disorders {source="Orphanet:261947"}
synonym: "partial deletion of chromosome 11p" EXACT [Orphanet:261947]
synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261947]
synonym: "partial monosomy of chromosome 11p" EXACT [Orphanet:261947]
synonym: "partial monosomy of the short arm of chromosome 11" EXACT [Orphanet:261947]
xref: ICD10:Q93.5 {source="Orphanet:261947", source="ORDO:261947/attributed", source="ORDO:261947/ntbt"}
xref: Orphanet:261947 {source="MONDO:equivalentTo"}
is_a: MONDO:0016876 {source="Orphanet:261947"} ! partial deletion of chromosome 11
property_value: exactMatch Orphanet:261947

[Term]
id: MONDO:0016894
name: partial deletion of the short arm of chromosome 16
subset: ordo_group_of_disorders {source="Orphanet:261956"}
synonym: "partial deletion of chromosome 16p" EXACT [Orphanet:261956]
synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261956]
synonym: "partial monosomy of chromosome 16p" EXACT [Orphanet:261956]
synonym: "partial monosomy of the short arm of chromosome 16" EXACT [Orphanet:261956]
xref: ICD10:Q93.5 {source="ORDO:261956/attributed", source="ORDO:261956/ntbt", source="Orphanet:261956"}
xref: Orphanet:261956 {source="MONDO:equivalentTo"}
is_a: MONDO:0016878 {source="Orphanet:261956"} ! partial deletion of chromosome 16
property_value: exactMatch Orphanet:261956

[Term]
id: MONDO:0016895
name: partial monosomy of the short arm of chromosome 17
subset: ordo_group_of_disorders {source="Orphanet:261965"}
synonym: "partial deletion of chromosome 17p" EXACT [Orphanet:261965]
synonym: "partial deletion of the short arm of chromosome 17" EXACT [Orphanet:261965]
synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965]
synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965]
xref: ICD10:Q93.5 {source="Orphanet:261965", source="ORDO:261965/attributed", source="ORDO:261965/ntbt"}
xref: Orphanet:261965 {source="MONDO:equivalentTo"}
is_a: MONDO:0016879 {source="Orphanet:261965"} ! partial deletion of chromosome 17
property_value: exactMatch Orphanet:261965

[Term]
id: MONDO:0016896
name: partial deletion of the short arm of chromosome 18
subset: ordo_group_of_disorders {source="Orphanet:261974"}
synonym: "partial deletion of chromosome 18p" EXACT [Orphanet:261974]
synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261974]
synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974]
synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974]
xref: ICD10:Q93.5 {source="ORDO:261974/attributed", source="ORDO:261974/ntbt", source="Orphanet:261974"}
xref: Orphanet:261974 {source="MONDO:equivalentTo"}
is_a: MONDO:0016880 {source="Orphanet:261974"} ! partial deletion of chromosome 18
property_value: exactMatch Orphanet:261974

[Term]
id: MONDO:0016897
name: partial deletion of the short arm of chromosome 19
subset: ordo_group_of_disorders {source="Orphanet:261983"}
synonym: "partial deletion of chromosome 19p" EXACT [Orphanet:261983]
synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261983]
synonym: "partial monosomy of chromosome 19p" EXACT [Orphanet:261983]
synonym: "partial monosomy of the short arm of chromosome 19" EXACT [Orphanet:261983]
xref: ICD10:Q93.5 {source="ORDO:261983/attributed", source="ORDO:261983/ntbt", source="Orphanet:261983"}
xref: Orphanet:261983 {source="MONDO:equivalentTo"}
is_a: MONDO:0016881 {source="Orphanet:261983"} ! partial deletion of chromosome 19
property_value: exactMatch Orphanet:261983

[Term]
id: MONDO:0016898
name: partial monosomy of the short arm of chromosome 20
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:261992"}
synonym: "20p deletion" RELATED [GARD:0003739]
synonym: "20p monosomy" RELATED [GARD:0003739]
synonym: "chromosome 20p deletion" RELATED [GARD:0003739]
synonym: "deletion 20p" RELATED [GARD:0003739, MESH:C535370]
synonym: "monosomy 20p" RELATED [GARD:0003739, MESH:C535370]
synonym: "partial deletion of chromosome 20p" EXACT [Orphanet:261992]
synonym: "partial deletion of the short arm of chromosome 20" EXACT [Orphanet:261992]
synonym: "partial monosomy 20p" RELATED [GARD:0003739]
synonym: "partial monosomy of chromosome 20p" EXACT [Orphanet:261992]
synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261992]
synonym: "Pure partial 20p deletion" EXACT [Orphanet:261992]
xref: GARD:0003739 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:261992/attributed", source="ORDO:261992/ntbt", source="Orphanet:261992"}
xref: MESH:C535370 {source="MONDO:equivalentTo"}
xref: Orphanet:261992 {source="MONDO:equivalentTo"}
xref: UMLS:CN036364 {source="MONDO:equivalentTo"}
is_a: MONDO:0016882 {source="Orphanet:261992"} ! partial deletion of chromosome 20
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930887
property_value: closeMatch Orphanet:1611
property_value: exactMatch http://identifiers.org/mesh/C535370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036364
property_value: exactMatch Orphanet:261992

[Term]
id: MONDO:0016899
name: Duchenne and Becker muscular dystrophy
def: "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:262]
subset: ordo_group_of_disorders {source="Orphanet:262"}
synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:262/ntbt", source="Orphanet:262", source="ORDO:262/inclusion"}
xref: Orphanet:262 {source="MONDO:equivalentTo"}
xref: UMLS:CN227033 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016106 {source="Orphanet:262"} ! progressive muscular dystrophy
is_a: MONDO:0016334 {source="Orphanet:262"} ! neuromuscular disease with dilated cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3542021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227033
property_value: exactMatch Orphanet:262

[Term]
id: MONDO:0016900
name: partial deletion of the long arm of chromosome 1
subset: ordo_group_of_disorders {source="Orphanet:262001"}
synonym: "partial deletion of chromosome 1q" EXACT [Orphanet:262001]
synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262001]
synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001]
synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001]
xref: ICD10:Q93.5 {source="Orphanet:262001", source="ORDO:262001/attributed", source="ORDO:262001/ntbt"}
xref: Orphanet:262001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016866 {source="Orphanet:262001"} ! partial deletion of chromosome 1
property_value: exactMatch Orphanet:262001

[Term]
id: MONDO:0016901
name: partial deletion of the long arm of chromosome 2
def: "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003744]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262010"}
synonym: "2q deletion" RELATED [GARD:0003744]
synonym: "2q monosomy" RELATED [GARD:0003744]
synonym: "chromosome 2q deletion" RELATED [GARD:0003744]
synonym: "deletion 2q" RELATED [GARD:0003744]
synonym: "monosomy 2q" RELATED [GARD:0003744]
synonym: "partial deletion of chromosome 2q" EXACT [Orphanet:262010]
synonym: "partial deletion of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262010]
synonym: "partial monosomy 2q" RELATED [GARD:0003744]
synonym: "partial monosomy of chromosome 2q" EXACT [Orphanet:262010]
synonym: "partial monosomy of the long arm of chromosome 2" EXACT [Orphanet:262010]
xref: GARD:0003744 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:262010", source="ORDO:262010/attributed", source="ORDO:262010/ntbt"}
xref: MESH:C538315 {source="MONDO:equivalentTo"}
xref: Orphanet:262010 {source="MONDO:equivalentTo"}
xref: UMLS:C0795804 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:262010", source="GARD:0003744", source="MONDO:equivalentTo"}
is_a: MONDO:0016867 {source="Orphanet:262010"} ! partial deletion of chromosome 2
property_value: exactMatch http://identifiers.org/mesh/C538315
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795804
property_value: exactMatch Orphanet:262010

[Term]
id: MONDO:0016902
name: partial deletion of the long arm of chromosome 3
subset: ordo_group_of_disorders {source="Orphanet:262019"}
synonym: "partial deletion of chromosome 3q" EXACT [Orphanet:262019]
synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262019]
synonym: "partial monosomy of chromosome 3q" EXACT [Orphanet:262019]
synonym: "partial monosomy of the long arm of chromosome 3" EXACT [Orphanet:262019]
xref: ICD10:Q93.5 {source="ORDO:262019/attributed", source="ORDO:262019/ntbt", source="Orphanet:262019"}
xref: Orphanet:262019 {source="MONDO:equivalentTo"}
is_a: MONDO:0016868 {source="Orphanet:262019"} ! partial deletion of chromosome 3
property_value: exactMatch Orphanet:262019

[Term]
id: MONDO:0016903
name: partial deletion of the long arm of chromosome 4
def: "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature . Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001340]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262029"}
synonym: "4q deletion" RELATED [GARD:0001340]
synonym: "4q monosomy" RELATED [GARD:0001340]
synonym: "chromosome 4q deletion" RELATED [GARD:0001340]
synonym: "deletion 4q" RELATED [GARD:0001340]
synonym: "monosomy 4q" RELATED [GARD:0001340]
synonym: "partial deletion of chromosome 4q" EXACT [Orphanet:262029]
synonym: "partial deletion of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262029]
synonym: "partial monosomy 4q" RELATED [GARD:0001340]
synonym: "partial monosomy of chromosome 4q" EXACT [Orphanet:262029]
synonym: "partial monosomy of the long arm of chromosome 4" EXACT [Orphanet:262029]
xref: GARD:0001340 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:262029/attributed", source="ORDO:262029/ntbt", source="Orphanet:262029"}
xref: MESH:C537639 {source="MONDO:equivalentTo"}
xref: Orphanet:262029 {source="MONDO:equivalentTo"}
is_a: MONDO:0016869 {source="Orphanet:262029"} ! partial deletion of chromosome 4
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265404
property_value: exactMatch http://identifiers.org/mesh/C537639
property_value: exactMatch Orphanet:262029

[Term]
id: MONDO:0016904
name: partial deletion of the long arm of chromosome 5
subset: ordo_group_of_disorders {source="Orphanet:262038"}
synonym: "partial deletion of chromosome 5q" EXACT [Orphanet:262038]
synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262038]
synonym: "partial monosomy of chromosome 5q" EXACT [Orphanet:262038]
synonym: "partial monosomy of the long arm of chromosome 5" EXACT [Orphanet:262038]
xref: ICD10:Q93.5 {source="ORDO:262038/attributed", source="ORDO:262038/ntbt", source="Orphanet:262038"}
xref: Orphanet:262038 {source="MONDO:equivalentTo"}
is_a: MONDO:0016870 {source="Orphanet:262038"} ! partial deletion of chromosome 5
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0740302
property_value: exactMatch Orphanet:262038

[Term]
id: MONDO:0016905
name: partial deletion of the long arm of chromosome 6
def: "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003760]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262047"}
synonym: "6q deletion" RELATED [GARD:0003760]
synonym: "6q monosomy" RELATED [GARD:0003760]
synonym: "chromosome 6q deletion" RELATED [GARD:0003760]
synonym: "deletion 6q" RELATED [GARD:0003760]
synonym: "monosomy 6q" RELATED [GARD:0003760]
synonym: "partial deletion of chromosome 6q" EXACT [Orphanet:262047]
synonym: "partial deletion of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262047]
synonym: "partial monosomy 6q" RELATED [GARD:0003760]
synonym: "partial monosomy of chromosome 6q" EXACT [Orphanet:262047]
synonym: "partial monosomy of the long arm of chromosome 6" EXACT [Orphanet:262047]
xref: GARD:0003760 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:262047/attributed", source="ORDO:262047/ntbt", source="Orphanet:262047"}
xref: MESH:C537807 {source="MONDO:equivalentTo"}
xref: Orphanet:262047 {source="MONDO:equivalentTo"}
xref: UMLS:C0795816 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:262047", source="GARD:0003760"}
is_a: MONDO:0016871 {source="Orphanet:262047"} ! partial deletion of chromosome 6
property_value: exactMatch http://identifiers.org/mesh/C537807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795816
property_value: exactMatch Orphanet:262047

[Term]
id: MONDO:0016906
name: partial deletion of the long arm of chromosome 7
def: "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003765]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262056"}
synonym: "7q deletion" RELATED [GARD:0003765]
synonym: "7q monosomy" RELATED [GARD:0003765]
synonym: "del(7q)" EXACT [NCIT:C36408]
synonym: "deletion 7q" RELATED [GARD:0003765]
synonym: "loss of chromosome 7q" EXACT [NCIT:C36408]
synonym: "monosomy 7q" RELATED [GARD:0003765]
synonym: "partial deletion of chromosome 7q" EXACT [Orphanet:262056]
synonym: "partial deletion of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262056]
synonym: "partial monosomy 7q" RELATED [GARD:0003765]
synonym: "partial monosomy of chromosome 7q" EXACT [Orphanet:262056]
synonym: "partial monosomy of the long arm of chromosome 7" EXACT [Orphanet:262056]
xref: GARD:0003765 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:262056", source="ORDO:262056/attributed", source="ORDO:262056/ntbt"}
xref: NCIT:C36408 {source="MONDO:equivalentTo"}
xref: Orphanet:262056 {source="MONDO:equivalentTo"}
is_a: MONDO:0016872 {source="Orphanet:262056"} ! partial deletion of chromosome 7
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1513483
property_value: exactMatch NCIT:C36408
property_value: exactMatch Orphanet:262056

[Term]
id: MONDO:0016907
name: partial deletion of the long arm of chromosome 8
def: "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003770]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262065"}
synonym: "8q deletion" RELATED [GARD:0003770]
synonym: "8q monosomy" RELATED [GARD:0003770]
synonym: "chromosome 8q deletion" RELATED [GARD:0003770]
synonym: "deletion 8q" RELATED [GARD:0003770]
synonym: "monosomy 8q" RELATED [GARD:0003770]
synonym: "partial deletion of chromosome 8q" EXACT [Orphanet:262065]
synonym: "partial deletion of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262065]
synonym: "partial monosomy 8q" RELATED [GARD:0003770]
synonym: "partial monosomy of chromosome 8q" EXACT [Orphanet:262065]
synonym: "partial monosomy of the long arm of chromosome 8" EXACT [Orphanet:262065]
xref: GARD:0003770 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:262065", source="ORDO:262065/attributed", source="ORDO:262065/ntbt"}
xref: MESH:C537828 {source="MONDO:equivalentTo"}
xref: Orphanet:262065 {source="MONDO:equivalentTo"}
xref: UMLS:C0795828 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:262065", source="MONDO:equivalentTo", source="GARD:0003770"}
is_a: MONDO:0016873 {source="Orphanet:262065"} ! partial deletion of chromosome 8
property_value: exactMatch http://identifiers.org/mesh/C537828
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795828
property_value: exactMatch Orphanet:262065

[Term]
id: MONDO:0016908
name: partial monosomy of the long arm of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:262074"}
synonym: "partial deletion of chromosome 9q" EXACT [Orphanet:262074]
synonym: "partial deletion of the long arm of chromosome 9" EXACT [Orphanet:262074]
synonym: "partial monosomy of chromosome 9q" EXACT [Orphanet:262074]
synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262074]
xref: ICD10:Q93.5 {source="Orphanet:262074", source="ORDO:262074/attributed", source="ORDO:262074/ntbt"}
xref: Orphanet:262074 {source="MONDO:equivalentTo"}
is_a: MONDO:0016874 {source="Orphanet:262074"} ! partial deletion of chromosome 9
property_value: exactMatch Orphanet:262074

[Term]
id: MONDO:0016909
name: partial monosomy of the long arm of chromosome 10
subset: ordo_group_of_disorders {source="Orphanet:262083"}
synonym: "partial deletion of chromosome 10q" EXACT [Orphanet:262083]
synonym: "partial deletion of the long arm of chromosome 10" EXACT [Orphanet:262083]
synonym: "partial monosomy of chromosome 10q" EXACT [Orphanet:262083]
synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:262083]
xref: ICD10:Q93.5 {source="ORDO:262083/attributed", source="ORDO:262083/ntbt", source="Orphanet:262083"}
xref: Orphanet:262083 {source="MONDO:equivalentTo"}
xref: UMLS:C0795839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:262083"}
is_a: MONDO:0016875 {source="Orphanet:262083"} ! partial deletion of chromosome 10
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795839
property_value: exactMatch Orphanet:262083

[Term]
id: MONDO:0016910
name: partial deletion of the long arm of chromosome 11
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." [NCIT:C37312]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262092"}
synonym: "11q deletion" RELATED [GARD:0001735]
synonym: "11q monosomy" RELATED [GARD:0001735]
synonym: "chromosome 11q deletion" RELATED [GARD:0001735]
synonym: "chromosome 11q partial deletion" RELATED [GTR:AN0100478]
synonym: "del(11q)" EXACT [NCIT:C37312]
synonym: "deletion 11q" RELATED [GARD:0001735]
synonym: "Deletion 11q partial" RELATED [GTR:AN0100479]
synonym: "loss of chromosome 11q" EXACT [NCIT:C37312]
synonym: "monosomy 11q" RELATED [GARD:0001735]
synonym: "monosomy 11q partial" RELATED [GTR:AN0100480]
synonym: "partial deletion of chromosome 11q" EXACT [Orphanet:262092]
synonym: "partial deletion of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262092]
synonym: "partial monosomy 11q" RELATED [GARD:0001735]
synonym: "partial monosomy of chromosome 11q" EXACT [Orphanet:262092]
synonym: "partial monosomy of the long arm of chromosome 11" EXACT [Orphanet:262092]
xref: GARD:0001735 {source="MONDO:equivalentTo"}
xref: GTR:AN0100478 {source="UMLS:CN035778"}
xref: GTR:AN0100479 {source="UMLS:CN035778"}
xref: GTR:AN0100480 {source="UMLS:CN035778"}
xref: ICD10:Q93.5 {source="Orphanet:262092", source="ORDO:262092/attributed", source="ORDO:262092/ntbt"}
xref: MESH:C538296 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C37312 {source="MONDO:equivalentTo"}
xref: Orphanet:262092 {source="MONDO:equivalentTo"}
xref: UMLS:CN035778 {source="MONDO:equivalentTo"}
is_a: MONDO:0016876 {source="Orphanet:262092"} ! partial deletion of chromosome 11
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931804
property_value: exactMatch http://identifiers.org/mesh/C538296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035778
property_value: exactMatch NCIT:C37312
property_value: exactMatch Orphanet:262092

[Term]
id: MONDO:0016911
name: partial deletion of the long arm of chromosome 13
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." [NCIT:C36497]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262101"}
synonym: "13q deletion" RELATED [GARD:0001738]
synonym: "13q monosomy" RELATED [GARD:0001738]
synonym: "chromosome 13q deletion" RELATED [GARD:0001738]
synonym: "del(13q)" EXACT [NCIT:C36497]
synonym: "deletion 13q" RELATED [GARD:0001738]
synonym: "loss of chromosome 13q" EXACT [NCIT:C36497]
synonym: "monosomy 13q" RELATED [GARD:0001738]
synonym: "partial deletion of chromosome 13q" EXACT [Orphanet:262101]
synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262101]
synonym: "partial monosomy of chromosome 13q" EXACT [Orphanet:262101]
synonym: "partial monosomy of the long arm of chromosome 13" EXACT [Orphanet:262101]
xref: GARD:0001738 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:262101/attributed", source="ORDO:262101/ntbt", source="Orphanet:262101"}
xref: MESH:C535449 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36497 {source="MONDO:equivalentTo"}
xref: Orphanet:262101 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:262101"} ! partial autosomal monosomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265451
property_value: exactMatch http://identifiers.org/mesh/C535449
property_value: exactMatch NCIT:C36497
property_value: exactMatch Orphanet:262101

[Term]
id: MONDO:0016912
name: partial deletion of the long arm of chromosome 14
def: "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing ( deleted ) copy of genetic material on the long arm (q) of chromosome 14." [GARD:0003722]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262110"}
synonym: "14q deletion" RELATED [GARD:0003722]
synonym: "14q monosomy" RELATED [GARD:0003722]
synonym: "chromosome 14q deletion" RELATED [GARD:0003722]
synonym: "deletion 14q" RELATED [GARD:0003722]
synonym: "monosomy 14q" RELATED [GARD:0003722]
synonym: "partial deletion of chromosome 14q" EXACT [Orphanet:262110]
synonym: "partial deletion of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262110]
synonym: "partial monosomy 14q" RELATED [GARD:0003722]
synonym: "partial monosomy of chromosome 14q" EXACT [Orphanet:262110]
synonym: "partial monosomy of the long arm of chromosome 14" EXACT [Orphanet:262110]
xref: GARD:0003722 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:262110", source="ORDO:262110/attributed", source="ORDO:262110/ntbt"}
xref: Orphanet:262110 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:262110"} ! partial autosomal monosomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931701
property_value: exactMatch Orphanet:262110

[Term]
id: MONDO:0016913
name: partial deletion of the long arm of chromosome 15
subset: ordo_group_of_disorders {source="Orphanet:262119"}
synonym: "15q deletion" RELATED [GARD:0001746]
synonym: "15q monosomy" RELATED [GARD:0001746]
synonym: "chromosome 15q deletion" RELATED [GARD:0001746]
synonym: "deletion 15q" RELATED [GARD:0001746]
synonym: "monosomy 15q" RELATED [GARD:0001746]
synonym: "partial deletion of chromosome 15q" EXACT [Orphanet:262119]
synonym: "partial deletion of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262119]
synonym: "partial monosomy 15q" RELATED [GARD:0001746]
synonym: "partial monosomy of chromosome 15q" EXACT [Orphanet:262119]
synonym: "partial monosomy of the long arm of chromosome 15" EXACT [Orphanet:262119]
xref: GARD:0001746 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="Orphanet:262119", source="ORDO:262119/attributed", source="ORDO:262119/ntbt"}
xref: MESH:C538038 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:262119 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:262119"} ! partial autosomal monosomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931708
property_value: exactMatch http://identifiers.org/mesh/C538038
property_value: exactMatch Orphanet:262119

[Term]
id: MONDO:0016914
name: partial deletion of the long arm of chromosome 16
subset: ordo_group_of_disorders {source="Orphanet:262128"}
synonym: "partial deletion of chromosome 16q" EXACT [Orphanet:262128]
synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262128]
synonym: "partial monosomy of chromosome 16q" EXACT [Orphanet:262128]
synonym: "partial monosomy of the long arm of chromosome 16" EXACT [Orphanet:262128]
xref: ICD10:Q93.5 {source="ORDO:262128/attributed", source="ORDO:262128/ntbt", source="Orphanet:262128"}
xref: Orphanet:262128 {source="MONDO:equivalentTo"}
is_a: MONDO:0016878 {source="Orphanet:262128"} ! partial deletion of chromosome 16
property_value: exactMatch Orphanet:262128

[Term]
id: MONDO:0016915
name: partial deletion of the long arm of chromosome 17
subset: ordo_group_of_disorders {source="Orphanet:262137"}
synonym: "partial deletion of chromosome 17q" EXACT [Orphanet:262137]
synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262137]
synonym: "partial monosomy of chromosome 17q" EXACT [Orphanet:262137]
synonym: "partial monosomy of the long arm of chromosome 17" EXACT [Orphanet:262137]
xref: ICD10:Q93.5 {source="ORDO:262137/attributed", source="ORDO:262137/ntbt", source="Orphanet:262137"}
xref: Orphanet:262137 {source="MONDO:equivalentTo"}
is_a: MONDO:0016879 {source="Orphanet:262137"} ! partial deletion of chromosome 17
property_value: exactMatch Orphanet:262137

[Term]
id: MONDO:0016916
name: partial deletion of the long arm of chromosome 18
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262146"}
synonym: "chromosome 18q deletion" RELATED [GARD:0013000]
synonym: "partial deletion of chromosome 18q" EXACT [Orphanet:262146]
synonym: "partial deletion of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262146]
synonym: "partial monosomy of chromosome 18q" EXACT [Orphanet:262146]
synonym: "partial monosomy of the long arm of chromosome 18" EXACT [Orphanet:262146]
xref: GARD:0013000 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:262146/attributed", source="ORDO:262146/ntbt", source="Orphanet:262146"}
xref: Orphanet:262146 {source="MONDO:equivalentTo"}
is_a: MONDO:0016880 {source="Orphanet:262146"} ! partial deletion of chromosome 18
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265472
property_value: exactMatch Orphanet:262146

[Term]
id: MONDO:0016917
name: partial deletion of the long arm of chromosome 19
subset: ordo_group_of_disorders {source="Orphanet:262155"}
synonym: "partial deletion of chromosome 19q" EXACT [Orphanet:262155]
synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262155]
synonym: "partial monosomy of chromosome 19q" EXACT [Orphanet:262155]
synonym: "partial monosomy of the long arm of chromosome 19" EXACT [Orphanet:262155]
xref: ICD10:Q93.5 {source="Orphanet:262155", source="ORDO:262155/attributed", source="ORDO:262155/ntbt"}
xref: Orphanet:262155 {source="MONDO:equivalentTo"}
is_a: MONDO:0016881 {source="Orphanet:262155"} ! partial deletion of chromosome 19
property_value: exactMatch Orphanet:262155

[Term]
id: MONDO:0016918
name: partial deletion of the long arm of chromosome 20
subset: ordo_group_of_disorders {source="Orphanet:262164"}
synonym: "partial deletion of chromosome 20q" EXACT [Orphanet:262164]
synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262164]
synonym: "partial monosomy of chromosome 20q" EXACT [Orphanet:262164]
synonym: "partial monosomy of the long arm of chromosome 20" EXACT [Orphanet:262164]
xref: ICD10:Q93.5 {source="Orphanet:262164", source="ORDO:262164/attributed", source="ORDO:262164/ntbt"}
xref: Orphanet:262164 {source="MONDO:equivalentTo"}
is_a: MONDO:0016882 {source="Orphanet:262164"} ! partial deletion of chromosome 20
property_value: exactMatch Orphanet:262164

[Term]
id: MONDO:0016919
name: partial deletion of the long arm of chromosome 21
subset: ordo_group_of_disorders {source="Orphanet:262173"}
synonym: "partial deletion of chromosome 21q" EXACT [Orphanet:262173]
synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2, Orphanet:262173]
synonym: "partial monosomy of chromosome 21q" EXACT [Orphanet:262173]
synonym: "partial monosomy of the long arm of chromosome 21" EXACT [Orphanet:262173]
xref: ICD10:Q93.5 {source="Orphanet:262173", source="ORDO:262173/attributed", source="ORDO:262173/ntbt"}
xref: Orphanet:262173 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:262173"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:262173

[Term]
id: MONDO:0016920
name: partial deletion of the long arm of chromosome 22
subset: ordo_group_of_disorders {source="Orphanet:262182"}
synonym: "partial deletion of chromosome 22q" EXACT [Orphanet:262182]
synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:262182]
synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182]
synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182]
xref: ICD10:Q93.5 {source="ORDO:262182/attributed", source="ORDO:262182/ntbt", source="Orphanet:262182"}
xref: Orphanet:262182 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:262182"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:262182

[Term]
id: MONDO:0016921
name: partial duplication of chromosome 1
subset: ordo_group_of_disorders {source="Orphanet:262191"}
synonym: "partial duplication of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262191]
synonym: "partial trisomy of chromosome 1" EXACT [Orphanet:262191]
xref: Orphanet:262191 {source="MONDO:equivalentTo"}
xref: SCTID:726338000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262191"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726338000
property_value: exactMatch Orphanet:262191

[Term]
id: MONDO:0016922
name: partial duplication of chromosome 2
subset: ordo_group_of_disorders {source="Orphanet:262196"}
synonym: "partial duplication of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262196]
synonym: "partial trisomy of chromosome 2" EXACT [Orphanet:262196]
xref: Orphanet:262196 {source="MONDO:equivalentTo"}
xref: SCTID:726340005 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262196"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726340005
property_value: exactMatch Orphanet:262196

[Term]
id: MONDO:0016923
name: partial duplication of chromosome 3
subset: ordo_group_of_disorders {source="Orphanet:262201"}
synonym: "partial duplication of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262201]
synonym: "partial trisomy of chromosome 3" EXACT [Orphanet:262201]
xref: Orphanet:262201 {source="MONDO:equivalentTo"}
xref: SCTID:726341009 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262201"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726341009
property_value: exactMatch Orphanet:262201

[Term]
id: MONDO:0016924
name: partial duplication of chromosome 4
subset: ordo_group_of_disorders {source="Orphanet:262206"}
synonym: "partial duplication of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262206]
synonym: "partial trisomy of chromosome 4" EXACT [Orphanet:262206]
xref: Orphanet:262206 {source="MONDO:equivalentTo"}
xref: SCTID:726342002 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262206"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726342002
property_value: exactMatch Orphanet:262206

[Term]
id: MONDO:0016925
name: partial trisomy/tetrasomy of chromosome 5
subset: ordo_group_of_disorders {source="Orphanet:262211"}
synonym: "partial duplication/triplication of chromosome 5" EXACT [Orphanet:262211]
synonym: "partial trisomy/tetrasomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262211]
xref: Orphanet:262211 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262211"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch Orphanet:262211

[Term]
id: MONDO:0016926
name: obsolete Geleophysic dysplasia
is_obsolete: true
replaced_by: MONDO:0000127

[Term]
id: MONDO:0016927
name: partial duplication of chromosome 6
subset: ordo_group_of_disorders {source="Orphanet:262628"}
synonym: "partial duplication of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262628]
synonym: "partial trisomy of chromosome 6" EXACT [Orphanet:262628]
xref: Orphanet:262628 {source="MONDO:equivalentTo"}
xref: SCTID:726345000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262628"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726345000
property_value: exactMatch Orphanet:262628

[Term]
id: MONDO:0016928
name: partial duplication of chromosome 7
subset: ordo_group_of_disorders {source="Orphanet:262633"}
synonym: "partial duplication of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262633]
synonym: "partial trisomy of chromosome 7" EXACT [Orphanet:262633]
xref: Orphanet:262633 {source="MONDO:equivalentTo"}
xref: SCTID:726346004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262633"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726346004
property_value: exactMatch Orphanet:262633

[Term]
id: MONDO:0016929
name: partial duplication of chromosome 8
subset: ordo_group_of_disorders {source="Orphanet:262638"}
synonym: "partial duplication of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262638]
synonym: "partial trisomy of chromosome 8" EXACT [Orphanet:262638]
xref: MESH:C537941 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:262638 {source="MONDO:equivalentTo"}
xref: SCTID:726347008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262638"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/mesh/C537941
property_value: exactMatch http://identifiers.org/snomedct/726347008
property_value: exactMatch Orphanet:262638

[Term]
id: MONDO:0016930
name: partial trisomy/tetrasomy of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:262643"}
synonym: "partial duplication/triplication of chromosome 9" EXACT [Orphanet:262643]
synonym: "partial trisomy/tetrasomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262643]
xref: Orphanet:262643 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262643"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch Orphanet:262643

[Term]
id: MONDO:0016931
name: partial duplication of chromosome 10
subset: ordo_group_of_disorders
synonym: "partial trisomy of chromosome 10" EXACT [Orphanet:262648]
xref: Orphanet:262648 {source="MONDO:equivalentTo"}
xref: SCTID:726349006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262648"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726349006
property_value: exactMatch Orphanet:262648

[Term]
id: MONDO:0016932
name: partial duplication of chromosome 11
subset: ordo_group_of_disorders {source="Orphanet:262653"}
synonym: "partial duplication of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262653]
synonym: "partial trisomy of chromosome 11" EXACT [Orphanet:262653]
xref: Orphanet:262653 {source="MONDO:equivalentTo"}
xref: SCTID:726350006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262653"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726350006
property_value: exactMatch Orphanet:262653

[Term]
id: MONDO:0016933
name: partial trisomy/tetrasomy of the short arm of chromosome 12
subset: ordo_group_of_disorders {source="Orphanet:262658"}
synonym: "partial duplication/triplication of chromosome 12p" EXACT [Orphanet:262658]
synonym: "partial duplication/triplication of the short arm of chromosome 12" EXACT [Orphanet:262658]
synonym: "partial trisomy/tetrasomy of chromosome 12p" EXACT [Orphanet:262658]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:262658]
xref: Orphanet:262658 {source="MONDO:equivalentTo"}
is_a: MONDO:0042968 ! partial duplication of chromosome 12
property_value: exactMatch Orphanet:262658

[Term]
id: MONDO:0016934
name: partial duplication of chromosome 16
subset: ordo_group_of_disorders {source="Orphanet:262672"}
synonym: "partial duplication of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262672]
synonym: "partial trisomy of chromosome 16" EXACT [Orphanet:262672]
xref: Orphanet:262672 {source="MONDO:equivalentTo"}
xref: SCTID:726355001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262672"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726355001
property_value: exactMatch Orphanet:262672

[Term]
id: MONDO:0016935
name: partial duplication of chromosome 17
subset: ordo_group_of_disorders {source="Orphanet:262677"}
synonym: "partial duplication of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262677]
synonym: "partial trisomy of chromosome 17" EXACT [Orphanet:262677]
xref: Orphanet:262677 {source="MONDO:equivalentTo"}
xref: SCTID:726356000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518505 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262677"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726356000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518505
property_value: exactMatch Orphanet:262677

[Term]
id: MONDO:0016936
name: partial trisomy/tetrasomy of chromosome 18
subset: ordo_group_of_disorders {source="Orphanet:262682"}
synonym: "partial duplication/triplication of chromosome 18" EXACT [Orphanet:262682]
synonym: "partial trisomy/tetrasomy of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262682]
xref: Orphanet:262682 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262682"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch Orphanet:262682

[Term]
id: MONDO:0016937
name: partial duplication of chromosome 19
subset: ordo_group_of_disorders {source="Orphanet:262687"}
synonym: "partial duplication of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262687]
synonym: "partial trisomy of chromosome 19" EXACT [Orphanet:262687]
xref: Orphanet:262687 {source="MONDO:equivalentTo"}
xref: SCTID:726358004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262687"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726358004
property_value: exactMatch Orphanet:262687

[Term]
id: MONDO:0016938
name: partial trisomy of chromosome 20
subset: ordo_group_of_disorders {source="Orphanet:262692"}
synonym: "partial duplication of chromosome 20" EXACT [Orphanet:262692]
synonym: "partial trisomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262692]
xref: Orphanet:262692 {source="MONDO:equivalentTo"}
xref: SCTID:726360002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518509 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262692"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/726360002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518509
property_value: exactMatch Orphanet:262692

[Term]
id: MONDO:0016939
name: partial duplication of the short arm of chromosome 2
def: "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005337]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262698"}
synonym: "2p duplication" RELATED [GARD:0005337]
synonym: "2p trisomy" RELATED [GARD:0005337]
synonym: "chromosome 2p duplication" RELATED [GARD:0005337]
synonym: "Duplication 2p" RELATED [GARD:0005337]
synonym: "partial duplication of chromosome 2p" EXACT [Orphanet:262698]
synonym: "partial duplication of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262698]
synonym: "partial trisomy 2p" RELATED [GARD:0005337]
synonym: "partial trisomy of chromosome 2p" EXACT [Orphanet:262698]
synonym: "trisomy 2p" RELATED [GARD:0005337]
xref: GARD:0005337 {source="MONDO:equivalentTo"}
xref: MESH:C538318 {source="MONDO:equivalentTo"}
xref: Orphanet:262698 {source="MONDO:equivalentTo"}
xref: UMLS:C0795803 {source="GARD:0005337", source="MONDO:equivalentTo"}
is_a: MONDO:0016922 {source="Orphanet:262698"} ! partial duplication of chromosome 2
property_value: exactMatch http://identifiers.org/mesh/C538318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795803
property_value: exactMatch Orphanet:262698

[Term]
id: MONDO:0016940
name: partial duplication of the short arm of chromosome 3
def: "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation . Treatment is based on the signs and symptoms present in each person." [GARD:0005343]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262707"}
synonym: "3p duplication" RELATED [GARD:0005343]
synonym: "3p trisomy" RELATED [GARD:0005343]
synonym: "chromosome 3p duplication" RELATED [GARD:0005343]
synonym: "Duplication 3p" RELATED [GARD:0005343]
synonym: "partial duplication of chromosome 3p" EXACT [Orphanet:262707]
synonym: "partial duplication of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262707]
synonym: "partial trisomy 3p" RELATED [GARD:0005343]
synonym: "partial trisomy of chromosome 3p" EXACT [Orphanet:262707]
synonym: "partial trisomy of the short arm of chromosome 3" EXACT [Orphanet:262707]
synonym: "trisomy 3p" RELATED [GARD:0005343]
xref: GARD:0005343 {source="MONDO:equivalentTo"}
xref: MESH:C536811 {source="MONDO:equivalentTo"}
xref: Orphanet:262707 {source="MONDO:equivalentTo"}
is_a: MONDO:0016923 {source="Orphanet:262707"} ! partial duplication of chromosome 3
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795807
property_value: exactMatch http://identifiers.org/mesh/C536811
property_value: exactMatch Orphanet:262707

[Term]
id: MONDO:0016941
name: partial duplication of the short arm of chromosome 4
subset: ordo_group_of_disorders {source="Orphanet:262716"}
synonym: "partial duplication of chromosome 4p" EXACT [Orphanet:262716]
synonym: "partial duplication of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262716]
synonym: "partial trisomy of chromosome 4p" EXACT [Orphanet:262716]
synonym: "partial trisomy of the short arm of chromosome 4" EXACT [Orphanet:262716]
xref: Orphanet:262716 {source="MONDO:equivalentTo"}
is_a: MONDO:0016924 {source="Orphanet:262716"} ! partial duplication of chromosome 4
property_value: exactMatch Orphanet:262716

[Term]
id: MONDO:0016942
name: partial trisomy/tetrasomy of the short arm of chromosome 5
subset: ordo_group_of_disorders {source="Orphanet:262725"}
synonym: "partial duplication/triplication of chromosome 5p" EXACT [Orphanet:262725]
synonym: "partial duplication/triplication of the short arm of chromosome 5" EXACT [Orphanet:262725]
synonym: "partial trisomy/tetrasomy of chromosome 5p" EXACT [Orphanet:262725]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262725]
xref: Orphanet:262725 {source="MONDO:equivalentTo"}
is_a: MONDO:0016925 {source="Orphanet:262725"} ! partial trisomy/tetrasomy of chromosome 5
property_value: exactMatch Orphanet:262725

[Term]
id: MONDO:0016943
name: partial duplication of the short arm of chromosome 6
def: "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation . Treatment is based on the signs and symptoms present in each person." [GARD:0005352]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262740"}
synonym: "6p duplication" RELATED [GARD:0005352]
synonym: "6p trisomy" RELATED [GARD:0005352]
synonym: "chromosome 6p duplication" RELATED [GARD:0005352]
synonym: "Duplication 6p" RELATED [GARD:0005352]
synonym: "partial duplication of chromosome 6p" EXACT [Orphanet:262740]
synonym: "partial duplication of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262740]
synonym: "partial trisomy 6p" RELATED [GARD:0005352]
synonym: "partial trisomy of chromosome 6p" EXACT [Orphanet:262740]
synonym: "partial trisomy of the short arm of chromosome 6" EXACT [Orphanet:262740]
synonym: "trisomy 6p" RELATED [GARD:0005352]
xref: GARD:0005352 {source="MONDO:equivalentTo"}
xref: MESH:C537811 {source="MONDO:equivalentTo"}
xref: Orphanet:262740 {source="MONDO:equivalentTo"}
xref: UMLS:CN036641 {source="MONDO:equivalentTo"}
is_a: MONDO:0016927 {source="Orphanet:262740"} ! partial duplication of chromosome 6
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931621
property_value: exactMatch http://identifiers.org/mesh/C537811
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036641
property_value: exactMatch Orphanet:262740

[Term]
id: MONDO:0016944
name: partial duplication of the short arm of chromosome 7
def: "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005355]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262749"}
synonym: "7p duplication" RELATED [GARD:0005355]
synonym: "7p trisomy" RELATED [GARD:0005355]
synonym: "chromosome 7p duplication" RELATED [GARD:0005355]
synonym: "Duplication 7p" RELATED [GARD:0005355]
synonym: "partial duplication of chromosome 7p" EXACT [Orphanet:262749]
synonym: "partial duplication of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262749]
synonym: "partial trisomy 7p" RELATED [GARD:0005355]
synonym: "partial trisomy of chromosome 7p" EXACT [Orphanet:262749]
synonym: "partial trisomy of the short arm of chromosome 7" EXACT [Orphanet:262749]
synonym: "trisomy 7p" RELATED [GARD:0005355]
xref: GARD:0005355 {source="MONDO:equivalentTo"}
xref: MESH:C537819 {source="MONDO:equivalentTo"}
xref: Orphanet:262749 {source="MONDO:equivalentTo"}
xref: UMLS:C0795820 {source="MONDO:equivalentTo", source="GARD:0005355"}
is_a: MONDO:0016928 {source="Orphanet:262749"} ! partial duplication of chromosome 7
property_value: exactMatch http://identifiers.org/mesh/C537819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795820
property_value: exactMatch Orphanet:262749

[Term]
id: MONDO:0016945
name: partial duplication of the short arm of chromosome 8
def: "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005361]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262758"}
synonym: "8p duplication" RELATED [GARD:0005361]
synonym: "8p trisomy" RELATED [GARD:0005361]
synonym: "chromosome 8p duplication" RELATED [GARD:0005361]
synonym: "Duplication 8p" RELATED [GARD:0005361]
synonym: "partial duplication of chromosome 8p" EXACT [Orphanet:262758]
synonym: "partial duplication of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262758]
synonym: "partial trisomy 8p" RELATED [GARD:0005361]
synonym: "partial trisomy of chromosome 8p" EXACT [Orphanet:262758]
synonym: "partial trisomy of the short arm of chromosome 8" EXACT [Orphanet:262758]
synonym: "trisomy 8p" RELATED [GARD:0005361]
xref: GARD:0005361 {source="MONDO:equivalentTo"}
xref: Orphanet:262758 {source="MONDO:equivalentTo"}
is_a: MONDO:0016929 {source="Orphanet:262758"} ! partial duplication of chromosome 8
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795825
property_value: exactMatch Orphanet:262758

[Term]
id: MONDO:0016946
name: partial trisomy of the short arm of chromosome 9
def: "Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9." [GARD:0005364]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262767"}
synonym: "9p duplication" RELATED [GARD:0005364]
synonym: "9p trisomy" RELATED [GARD:0005364]
synonym: "chromosome 9p duplication" RELATED [GARD:0005364]
synonym: "Duplication 9p" RELATED [GARD:0005364]
synonym: "partial duplication of chromosome 9p" EXACT [Orphanet:262767]
synonym: "partial duplication of the short arm of chromosome 9" EXACT [Orphanet:262767]
synonym: "partial trisomy 9p" RELATED [GARD:0005364]
synonym: "partial trisomy of chromosome 9p" EXACT [Orphanet:262767]
synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262767]
synonym: "trisomy 9p" RELATED [GARD:0005364]
xref: GARD:0005364 {source="MONDO:equivalentTo"}
xref: Orphanet:262767 {source="MONDO:equivalentTo"}
is_a: MONDO:0016930 {source="Orphanet:262767"} ! partial trisomy/tetrasomy of chromosome 9
property_value: exactMatch Orphanet:262767

[Term]
id: MONDO:0016947
name: partial duplication of the short arm of chromosome 10
subset: ordo_group_of_disorders
synonym: "partial duplication of chromosome 10p" EXACT [Orphanet:262776]
synonym: "partial trisomy of chromosome 10p" EXACT [Orphanet:262776]
synonym: "partial trisomy of the short arm of chromosome 10" EXACT [Orphanet:262776]
xref: Orphanet:262776 {source="MONDO:equivalentTo"}
is_a: MONDO:0016931 {source="Orphanet:262776"} ! partial duplication of chromosome 10
property_value: exactMatch Orphanet:262776

[Term]
id: MONDO:0016948
name: partial duplication of the short arm of chromosome 11
subset: ordo_group_of_disorders {source="Orphanet:262785"}
synonym: "partial duplication of chromosome 11p" EXACT [Orphanet:262785]
synonym: "partial duplication of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262785]
synonym: "partial trisomy of chromosome 11p" EXACT [Orphanet:262785]
synonym: "partial trisomy of the short arm of chromosome 11" EXACT [Orphanet:262785]
xref: Orphanet:262785 {source="MONDO:equivalentTo"}
is_a: MONDO:0016932 {source="Orphanet:262785"} ! partial duplication of chromosome 11
property_value: exactMatch Orphanet:262785

[Term]
id: MONDO:0016949
name: partial duplication of the short arm of chromosome 16
def: "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005315]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262794"}
synonym: "16p duplication" RELATED [GARD:0005315]
synonym: "16p trisomy" RELATED [GARD:0005315]
synonym: "chromosome 16p duplication" RELATED [GARD:0005315]
synonym: "Duplication 16p" RELATED [GARD:0005315]
synonym: "partial duplication of chromosome 16p" EXACT [Orphanet:262794]
synonym: "partial duplication of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262794]
synonym: "partial trisomy 16p" RELATED [GARD:0005315]
synonym: "partial trisomy of chromosome 16p" EXACT [Orphanet:262794]
synonym: "partial trisomy of the short arm of chromosome 16" EXACT [Orphanet:262794]
synonym: "trisomy 16p" RELATED [GARD:0005315]
xref: GARD:0005315 {source="MONDO:equivalentTo"}
xref: Orphanet:262794 {source="MONDO:equivalentTo"}
xref: UMLS:C0795861 {source="GARD:0005315", source="MONDO:equivalentTo"}
is_a: MONDO:0016934 {source="Orphanet:262794"} ! partial duplication of chromosome 16
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795861
property_value: exactMatch Orphanet:262794

[Term]
id: MONDO:0016950
name: partial duplication of the short arm of chromosome 17
subset: ordo_group_of_disorders {source="Orphanet:262803"}
synonym: "partial duplication of chromosome 17p" EXACT [Orphanet:262803]
synonym: "partial duplication of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262803]
synonym: "partial trisomy of chromosome 17p" EXACT [Orphanet:262803]
synonym: "partial trisomy of the short arm of chromosome 17" EXACT [Orphanet:262803]
xref: Orphanet:262803 {source="MONDO:equivalentTo"}
is_a: MONDO:0016935 {source="Orphanet:262803"} ! partial duplication of chromosome 17
property_value: exactMatch Orphanet:262803

[Term]
id: MONDO:0016951
name: partial trisomy/tetrasomy of the short arm of chromosome 18
subset: ordo_group_of_disorders {source="Orphanet:262812"}
synonym: "partial duplication/triplication of chromosome 18p" EXACT [Orphanet:262812]
synonym: "partial duplication/triplication of the short arm of chromosome 18" EXACT [Orphanet:262812]
synonym: "partial trisomy/tetrasomy of chromosome 18p" EXACT [Orphanet:262812]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262812]
xref: Orphanet:262812 {source="MONDO:equivalentTo"}
is_a: MONDO:0016936 {source="Orphanet:262812"} ! partial trisomy/tetrasomy of chromosome 18
property_value: exactMatch Orphanet:262812

[Term]
id: MONDO:0016952
name: partial duplication of the long arm of chromosome 1
subset: ordo_group_of_disorders {source="Orphanet:262833"}
synonym: "1q duplications" RELATED [GARD:0010831]
synonym: "partial duplication of chromosome 1q" EXACT [Orphanet:262833]
synonym: "partial duplication of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262833]
synonym: "partial trisomy 1q" RELATED [GARD:0010831]
synonym: "partial trisomy of chromosome 1q" EXACT [Orphanet:262833]
synonym: "partial trisomy of the long arm of chromosome 1" EXACT [Orphanet:262833]
xref: GARD:0010831 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: NCIT:C36521 {source="MONDO:equivalentTo"}
xref: Orphanet:262833 {source="MONDO:equivalentTo"}
xref: UMLS:C0795800 {source="MONDO:equivalentTo"}
is_a: MONDO:0016921 {source="Orphanet:262833"} ! partial duplication of chromosome 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795800
property_value: exactMatch NCIT:C36521
property_value: exactMatch Orphanet:262833

[Term]
id: MONDO:0016953
name: partial duplication of the long arm of chromosome 2
def: "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005340]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262842"}
synonym: "2q duplication" RELATED [GARD:0005340]
synonym: "2q trisomy" RELATED [GARD:0005340]
synonym: "chromosome 2q duplication" RELATED [GARD:0005340]
synonym: "Duplication 2q" RELATED [GARD:0005340]
synonym: "partial duplication of chromosome 2q" EXACT [Orphanet:262842]
synonym: "partial duplication of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262842]
synonym: "partial trisomy 2q" RELATED [GARD:0005340]
synonym: "partial trisomy of chromosome 2q" EXACT [Orphanet:262842]
synonym: "partial trisomy of the long arm of chromosome 2" EXACT [Orphanet:262842]
synonym: "trisomy 2q" RELATED [GARD:0005340]
xref: GARD:0005340 {source="MONDO:equivalentTo"}
xref: MESH:C535367 {source="MONDO:equivalentTo"}
xref: Orphanet:262842 {source="MONDO:equivalentTo"}
xref: UMLS:C0795805 {source="MONDO:equivalentTo", source="GARD:0005340"}
is_a: MONDO:0016922 {source="Orphanet:262842"} ! partial duplication of chromosome 2
property_value: exactMatch http://identifiers.org/mesh/C535367
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795805
property_value: exactMatch Orphanet:262842

[Term]
id: MONDO:0016954
name: partial duplication of the long arm of chromosome 3
def: "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation . Treatment is based on the signs and symptoms present in each person." [GARD:0005345]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262851"}
synonym: "chromosome 3, trisomy 3q" RELATED [GARD:0005345]
synonym: "chromosome 3q duplication" RELATED [GARD:0005345]
synonym: "Duplication 3q" RELATED [GARD:0005345]
synonym: "partial duplication of chromosome 3q" EXACT [Orphanet:262851]
synonym: "partial duplication of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262851]
synonym: "partial trisomy of chromosome 3q" EXACT [Orphanet:262851]
synonym: "trisomy 3q" RELATED [GARD:0005345]
xref: GARD:0005345 {source="MONDO:equivalentTo"}
xref: MESH:C536813 {source="MONDO:equivalentTo"}
xref: Orphanet:262851 {source="MONDO:equivalentTo"}
xref: UMLS:C0795809 {source="GARD:0005345", source="MONDO:equivalentTo"}
is_a: MONDO:0016923 {source="Orphanet:262851"} ! partial duplication of chromosome 3
property_value: exactMatch http://identifiers.org/mesh/C536813
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795809
property_value: exactMatch Orphanet:262851

[Term]
id: MONDO:0016955
name: partial duplication of the long arm of chromosome 4
def: "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4 . The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation . Some cases are not inherited and occur sporadically . Treatment is based on the signs and symptoms present in each person." [GARD:0005347]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262860"}
synonym: "4q duplication" RELATED [GARD:0005347]
synonym: "4q trisomy" RELATED [GARD:0005347]
synonym: "chromosome 4, partial trisomy 4q" EXACT [DOID:0111159]
synonym: "chromosome 4q duplication" RELATED [GARD:0005347]
synonym: "distal 4q trisomy" EXACT [DOID:0111159]
synonym: "dup(4q) syndrome, partial" EXACT [DOID:0111159]
synonym: "Duplication 4q" RELATED [GARD:0005347]
synonym: "Duplication 4q syndrome, partial" EXACT [DOID:0111159]
synonym: "partial duplication of chromosome 4q" EXACT [Orphanet:262860]
synonym: "partial duplication of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262860]
synonym: "partial trisomy 4q" RELATED [GARD:0005347]
synonym: "partial trisomy 4q syndrome" EXACT [DOID:0111159]
synonym: "partial trisomy distal 4q" RELATED [DOID:0111159]
synonym: "partial trisomy of chromosome 4q" EXACT [Orphanet:262860]
synonym: "partial trisomy of the long arm of chromosome 4" EXACT [Orphanet:262860]
synonym: "trisomy 4q" RELATED [GARD:0005347]
xref: DOID:0111159 {source="MONDO:equivalentTo"}
xref: GARD:0005347 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.3 {source="ORDO:262860/attributed", source="ORDO:262860/ntbt", source="Orphanet:262860"}
xref: MESH:C537644 {source="MONDO:equivalentTo"}
xref: Orphanet:262860 {source="MONDO:equivalentTo"}
xref: UMLS:C0795812 {source="GARD:0005347", source="MONDO:equivalentTo"}
is_a: MONDO:0000762 {source="DOID:0111159"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016924 {source="Orphanet:262860"} ! partial duplication of chromosome 4
property_value: closeMatch Orphanet:1739
property_value: exactMatch DOID:0111159
property_value: exactMatch http://identifiers.org/mesh/C537644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795812
property_value: exactMatch Orphanet:262860

[Term]
id: MONDO:0016956
name: partial trisomy of the long arm of chromosome 5
def: "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation . Treatment is based on the signs and symptoms present in each person." [GARD:0005351]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262869"}
synonym: "5q duplication" RELATED [GARD:0005351]
synonym: "5q trisomy" RELATED [GARD:0005351]
synonym: "chromosome 5q duplication" RELATED [GARD:0005351]
synonym: "Duplication 5q" RELATED [GARD:0005351]
synonym: "partial duplication of chromosome 5q" EXACT [Orphanet:262869]
synonym: "partial duplication of the long arm of chromosome 5" EXACT [Orphanet:262869]
synonym: "partial trisomy 5q" RELATED [GARD:0005351]
synonym: "partial trisomy of chromosome 5q" EXACT [Orphanet:262869]
synonym: "partial trisomy of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262869]
synonym: "trisomy 5q" RELATED [GARD:0005351]
xref: GARD:0005351 {source="MONDO:equivalentTo"}
xref: MESH:C537650 {source="MONDO:equivalentTo"}
xref: Orphanet:262869 {source="MONDO:equivalentTo"}
xref: UMLS:C1802398 {source="MONDO:equivalentTo", source="GARD:0005351"}
is_a: MONDO:0016925 {source="Orphanet:262869"} ! partial trisomy/tetrasomy of chromosome 5
property_value: exactMatch http://identifiers.org/mesh/C537650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1802398
property_value: exactMatch Orphanet:262869

[Term]
id: MONDO:0016957
name: partial duplication of the long arm of chromosome 6
def: "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation . Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." [GARD:0005353]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262878"}
synonym: "6q duplication" RELATED [GARD:0005353]
synonym: "6q trisomy" RELATED [GARD:0005353]
synonym: "chromosome 6q duplication" RELATED [GARD:0005353]
synonym: "Duplication 6q" RELATED [GARD:0005353]
synonym: "partial duplication of chromosome 6q" EXACT [Orphanet:262878]
synonym: "partial duplication of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262878]
synonym: "partial trisomy 6q" RELATED [GARD:0005353]
synonym: "partial trisomy of chromosome 6q" EXACT [Orphanet:262878]
synonym: "partial trisomy of the long arm of chromosome 6" EXACT [Orphanet:262878]
synonym: "trisomy 6q" RELATED [GARD:0005353]
xref: GARD:0005353 {source="MONDO:equivalentTo"}
xref: MESH:C537812 {source="MONDO:equivalentTo"}
xref: Orphanet:262878 {source="MONDO:equivalentTo"}
is_a: MONDO:0016927 {source="Orphanet:262878"} ! partial duplication of chromosome 6
property_value: exactMatch http://identifiers.org/mesh/C537812
property_value: exactMatch Orphanet:262878

[Term]
id: MONDO:0016958
name: partial duplication of the long arm of chromosome 7
def: "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005357]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262887"}
synonym: "7q duplication" RELATED [GARD:0005357]
synonym: "7q trisomy" RELATED [GARD:0005357]
synonym: "chromosome 7q duplication" RELATED [GARD:0005357]
synonym: "Duplication 7q" RELATED [GARD:0005357]
synonym: "partial duplication of chromosome 7q" EXACT [Orphanet:262887]
synonym: "partial duplication of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262887]
synonym: "partial trisomy 7q" RELATED [GARD:0005357]
synonym: "partial trisomy of chromosome 7q" EXACT [Orphanet:262887]
synonym: "partial trisomy of the long arm of chromosome 7" EXACT [Orphanet:262887]
synonym: "trisomy 7q" RELATED [GARD:0005357]
xref: GARD:0005357 {source="MONDO:equivalentTo"}
xref: MESH:C537821 {source="MONDO:equivalentTo"}
xref: Orphanet:262887 {source="MONDO:equivalentTo"}
xref: UMLS:C0795821 {source="GARD:0005357", source="MONDO:equivalentTo"}
is_a: MONDO:0016928 {source="Orphanet:262887"} ! partial duplication of chromosome 7
property_value: exactMatch http://identifiers.org/mesh/C537821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795821
property_value: exactMatch Orphanet:262887

[Term]
id: MONDO:0016959
name: partial duplication of the long arm of chromosome 8
subset: ordo_group_of_disorders {source="Orphanet:262896"}
synonym: "partial duplication of chromosome 8q" EXACT [Orphanet:262896]
synonym: "partial duplication of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262896]
synonym: "partial trisomy of chromosome 8q" EXACT [Orphanet:262896]
synonym: "partial trisomy of the long arm of chromosome 8" EXACT [Orphanet:262896]
xref: Orphanet:262896 {source="MONDO:equivalentTo"}
is_a: MONDO:0016929 {source="Orphanet:262896"} ! partial duplication of chromosome 8
property_value: exactMatch Orphanet:262896

[Term]
id: MONDO:0016960
name: partial trisomy of the long arm of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:262905"}
synonym: "partial duplication of chromosome 9q" EXACT [Orphanet:262905]
synonym: "partial duplication of the long arm of chromosome 9" EXACT [Orphanet:262905]
synonym: "partial trisomy of chromosome 9q" EXACT [Orphanet:262905]
synonym: "partial trisomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262905]
xref: Orphanet:262905 {source="MONDO:equivalentTo"}
is_a: MONDO:0016930 {source="Orphanet:262905"} ! partial trisomy/tetrasomy of chromosome 9
property_value: exactMatch Orphanet:262905

[Term]
id: MONDO:0016961
name: partial duplication of the long arm of chromosome 10
alt_id: MONDO:0042978
subset: ordo_group_of_disorders
synonym: "partial duplication of chromosome 10q" EXACT [Orphanet:262914]
synonym: "partial trisomy of chromosome 10q" EXACT [Orphanet:262914]
synonym: "partial trisomy of the long arm of chromosome 10" EXACT [Orphanet:262914]
xref: Orphanet:262914 {source="MONDO:equivalentTo"}
is_a: MONDO:0016931 {source="Orphanet:262914"} ! partial duplication of chromosome 10
property_value: exactMatch Orphanet:262914

[Term]
id: MONDO:0016962
name: partial duplication of the long arm of chromosome 11
subset: ordo_group_of_disorders {source="Orphanet:262923"}
synonym: "11q duplication" RELATED [GARD:0001923]
synonym: "11q trisomy" RELATED [GARD:0001923]
synonym: "chromosome 11q duplication" RELATED [GARD:0001923]
synonym: "Duplication 11q" RELATED [GARD:0001923]
synonym: "partial duplication of chromosome 11q" EXACT [Orphanet:262923]
synonym: "partial duplication of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262923]
synonym: "partial trisomy 11q" RELATED [GARD:0001923]
synonym: "partial trisomy of chromosome 11q" EXACT [Orphanet:262923]
synonym: "partial trisomy of the long arm of chromosome 11" EXACT [Orphanet:262923]
synonym: "trisomy 11q" RELATED [GARD:0001923]
xref: GARD:0001923 {source="MONDO:equivalentTo"}
xref: Orphanet:262923 {source="MONDO:equivalentTo"}
is_a: MONDO:0016932 {source="Orphanet:262923"} ! partial duplication of chromosome 11
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795842
property_value: exactMatch Orphanet:262923

[Term]
id: MONDO:0016963
name: partial duplication of the long arm of chromosome 13
def: "Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra( duplicated ) copy of genetic material on the long arm (q) of chromosome 13." [GARD:0001929]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262932"}
synonym: "13q duplication" RELATED [GARD:0001929]
synonym: "13q trisomy" RELATED [GARD:0001929]
synonym: "chromosome 13q duplication" RELATED [GARD:0001929]
synonym: "Duplication 13q" RELATED [GARD:0001929]
synonym: "partial duplication of chromosome 13q" EXACT [Orphanet:262932]
synonym: "partial duplication of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262932]
synonym: "partial trisomy 13q" RELATED [GARD:0001929]
synonym: "partial trisomy of chromosome 13q" EXACT [Orphanet:262932]
synonym: "partial trisomy of the long arm of chromosome 13" EXACT [Orphanet:262932]
synonym: "trisomy 13q" RELATED [GARD:0001929]
xref: GARD:0001929 {source="MONDO:equivalentTo"}
xref: Orphanet:262932 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262932"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch Orphanet:262932

[Term]
id: MONDO:0016964
name: partial duplication of the long arm of chromosome 14
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262941"}
synonym: "14q duplication" RELATED [GARD:0005311]
synonym: "14q trisomy" RELATED [GARD:0005311]
synonym: "chromosome 14q duplication" RELATED [GARD:0005311]
synonym: "Duplication 14q" RELATED [GARD:0005311]
synonym: "partial duplication of chromosome 14q" EXACT [Orphanet:262941]
synonym: "partial duplication of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262941]
synonym: "partial trisomy 14q" RELATED [GARD:0005311]
synonym: "partial trisomy of chromosome 14q" EXACT [Orphanet:262941]
synonym: "partial trisomy of the long arm of chromosome 14" EXACT [Orphanet:262941]
synonym: "trisomy 14q" RELATED [GARD:0005311]
xref: GARD:0005311 {source="MONDO:equivalentTo"}
xref: Orphanet:262941 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262941"} ! partial autosomal trisomy/tetrasomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931700
property_value: exactMatch Orphanet:262941

[Term]
id: MONDO:0016965
name: partial duplication of the long arm of chromosome 15
def: "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra ( duplicate ) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005314]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262950"}
synonym: "15q duplication" RELATED [GARD:0005314]
synonym: "15q trisomy" RELATED [GARD:0005314]
synonym: "chromosome 15q duplication" RELATED [GARD:0005314]
synonym: "Duplication 15q" RELATED [GARD:0005314]
synonym: "partial duplication of chromosome 15q" EXACT [Orphanet:262950]
synonym: "partial duplication of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262950]
synonym: "partial trisomy 15q" RELATED [GARD:0005314]
synonym: "partial trisomy of chromosome 15q" EXACT [Orphanet:262950]
synonym: "partial trisomy of the long arm of chromosome 15" EXACT [Orphanet:262950]
synonym: "trisomy 15q" RELATED [GARD:0005314]
xref: GARD:0005314 {source="MONDO:equivalentTo"}
xref: MESH:C538040 {source="MONDO:equivalentTo"}
xref: Orphanet:262950 {source="MONDO:equivalentTo"}
xref: UMLS:C0795858 {source="GARD:0005314", source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:262950"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch http://identifiers.org/mesh/C538040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795858
property_value: exactMatch Orphanet:262950

[Term]
id: MONDO:0016966
name: partial trisomy of the long arm of chromosome 16
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262959"}
synonym: "16q duplication" RELATED [GARD:0005316]
synonym: "16q trisomy" RELATED [GARD:0005316]
synonym: "chromosome 16q duplication" RELATED [GARD:0005316]
synonym: "Duplication 16q" RELATED [GARD:0005316]
synonym: "partial duplication of chromosome 16q" EXACT [Orphanet:262959]
synonym: "partial duplication of the long arm of chromosome 16" EXACT [Orphanet:262959]
synonym: "partial trisomy 16q" RELATED [GARD:0005316]
synonym: "partial trisomy of chromosome 16q" EXACT [Orphanet:262959]
synonym: "partial trisomy of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262959]
synonym: "trisomy 16q" RELATED [GARD:0005316]
xref: GARD:0005316 {source="MONDO:equivalentTo"}
xref: MESH:C538042 {source="MONDO:equivalentTo"}
xref: Orphanet:262959 {source="MONDO:equivalentTo"}
xref: UMLS:CN036363 {source="MONDO:equivalentTo"}
is_a: MONDO:0016934 {source="Orphanet:262959"} ! partial duplication of chromosome 16
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931711
property_value: exactMatch http://identifiers.org/mesh/C538042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036363
property_value: exactMatch Orphanet:262959

[Term]
id: MONDO:0016967
name: partial duplication of the long arm of chromosome 17
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262968"}
synonym: "17q duplication" RELATED [GARD:0005320]
synonym: "17q trisomy" RELATED [GARD:0005320]
synonym: "chromosome 17q duplication" RELATED [GARD:0005320]
synonym: "Duplication 17q" RELATED [GARD:0005320]
synonym: "partial duplication of chromosome 17q" EXACT [Orphanet:262968]
synonym: "partial duplication of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262968]
synonym: "partial trisomy 17q" RELATED [GARD:0005320]
synonym: "partial trisomy of chromosome 17q" EXACT [Orphanet:262968]
synonym: "partial trisomy of the long arm of chromosome 17" EXACT [Orphanet:262968]
synonym: "trisomy 17q" RELATED [GARD:0005320]
xref: GARD:0005320 {source="MONDO:equivalentTo"}
xref: Orphanet:262968 {source="MONDO:equivalentTo"}
xref: UMLS:CN035860 {source="MONDO:equivalentTo"}
is_a: MONDO:0016935 {source="Orphanet:262968"} ! partial duplication of chromosome 17
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035860
property_value: exactMatch Orphanet:262968

[Term]
id: MONDO:0016968
name: partial trisomy of the long arm of chromosome 18
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262977"}
synonym: "18q duplication" RELATED [GARD:0005324]
synonym: "18q partial trisomy" RELATED [GARD:0005324]
synonym: "18q trisomy" RELATED [GARD:0005324]
synonym: "chromosome 18q duplication" RELATED [GARD:0005324]
synonym: "Duplication 18q" RELATED [GARD:0005324]
synonym: "partial duplication of chromosome 18q" EXACT [Orphanet:262977]
synonym: "partial duplication of the long arm of chromosome 18" EXACT [Orphanet:262977]
synonym: "partial trisomy of chromosome 18q" EXACT [Orphanet:262977]
synonym: "partial trisomy of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262977]
synonym: "trisomy 18q" RELATED [GARD:0005324]
xref: GARD:0005324 {source="MONDO:equivalentTo"}
xref: MESH:C538308 {source="MONDO:equivalentTo"}
xref: Orphanet:262977 {source="MONDO:equivalentTo"}
xref: UMLS:C0809935 {source="GARD:0005324", source="MONDO:equivalentTo"}
is_a: MONDO:0016936 {source="Orphanet:262977"} ! partial trisomy/tetrasomy of chromosome 18
property_value: exactMatch http://identifiers.org/mesh/C538308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0809935
property_value: exactMatch Orphanet:262977

[Term]
id: MONDO:0016969
name: partial duplication of the long arm of chromosome 19
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:262986"}
synonym: "19q duplication" RELATED [GARD:0005326]
synonym: "19q trisomy" RELATED [GARD:0005326]
synonym: "chromosome 19q duplication" RELATED [GARD:0005326]
synonym: "Duplication 19q" RELATED [GARD:0005326]
synonym: "partial duplication of chromosome 19q" EXACT [Orphanet:262986]
synonym: "partial duplication of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262986]
synonym: "partial trisomy 19q" RELATED [GARD:0005326]
synonym: "partial trisomy of chromosome 19q" EXACT [Orphanet:262986]
synonym: "partial trisomy of the long arm of chromosome 19" EXACT [Orphanet:262986]
synonym: "trisomy 19q" RELATED [GARD:0005326]
xref: GARD:0005326 {source="MONDO:equivalentTo"}
xref: MESH:C538311 {source="MONDO:equivalentTo"}
xref: Orphanet:262986 {source="MONDO:equivalentTo"}
xref: UMLS:C0795871 {source="GARD:0005326", source="MONDO:equivalentTo"}
is_a: MONDO:0016937 {source="Orphanet:262986"} ! partial duplication of chromosome 19
property_value: exactMatch http://identifiers.org/mesh/C538311
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795871
property_value: exactMatch Orphanet:262986

[Term]
id: MONDO:0016970
name: partial trisomy of the long arm of chromosome 20
subset: ordo_group_of_disorders {source="Orphanet:262995"}
synonym: "partial duplication of chromosome 20q" EXACT [Orphanet:262995]
synonym: "partial duplication of the long arm of chromosome 20" EXACT [Orphanet:262995]
synonym: "partial trisomy of chromosome 20q" EXACT [Orphanet:262995]
synonym: "partial trisomy of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262995]
xref: Orphanet:262995 {source="MONDO:equivalentTo"}
is_a: MONDO:0016938 {source="Orphanet:262995"} ! partial trisomy of chromosome 20
property_value: exactMatch Orphanet:262995

[Term]
id: MONDO:0016971
name: limb-girdle muscular dystrophy
def: "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." [Orphanet:263]
subset: gard_rare {source="GARD:0006907"}
subset: ordo_group_of_disorders {source="Orphanet:263"}
synonym: "erb's muscular dystrophy" EXACT [DOID:11724]
synonym: "Leyden-Mbius muscular dystrophy" EXACT [DOID:11724]
synonym: "Leyden-Mobius muscular dystrophy" EXACT [DOID:11724]
synonym: "LGMD" EXACT [Orphanet:263]
synonym: "limb girdle muscular dystrophy" EXACT [CSP2005:1849-6662, DOID:11724]
xref: DOID:11724 {source="MONDO:equivalentTo"}
xref: GARD:0006907 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:263/ntbt", source="DOID:11724", source="Orphanet:263", source="ORDO:263/inclusion"}
xref: MESH:D049288 {source="DOID:11724", source="MONDO:equivalentTo", source="ORDO:263/e", source="Orphanet:263", source="MONDO:ontobio"}
xref: NCIT:C84828 {source="DOID:11724", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:263 {source="DOID:11724", source="MONDO:equivalentTo"}
xref: SCTID:78468005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0270950 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C0686353 {source="DOID:11724", source="MONDO:equivalentTo", source="NCIT:C84828", source="ORDO:263/e", source="Orphanet:263"}
is_a: MONDO:0016106 {source="Orphanet:263"} ! progressive muscular dystrophy
property_value: closeMatch http://identifiers.org/snomedct/56096001
property_value: closeMatch http://identifiers.org/snomedct/93153005
property_value: exactMatch DOID:11724
property_value: exactMatch http://identifiers.org/mesh/D049288
property_value: exactMatch http://identifiers.org/snomedct/78468005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686353
property_value: exactMatch NCIT:C84828
property_value: exactMatch Orphanet:263
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy xsd:anyURI {source="GARD:0006907"}

[Term]
id: MONDO:0016972
name: partial duplication of the long arm of chromosome 22
subset: ordo_group_of_disorders {source="Orphanet:263004"}
synonym: "partial duplication of chromosome 22q" EXACT [Orphanet:263004]
synonym: "partial duplication of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:263004]
synonym: "partial trisomy of chromosome 22q" EXACT [Orphanet:263004]
synonym: "partial trisomy of the long arm of chromosome 22" EXACT [Orphanet:263004]
xref: Orphanet:263004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:263004"} ! partial autosomal trisomy/tetrasomy
property_value: exactMatch Orphanet:263004

[Term]
id: MONDO:0016973
name: obsolete thymoma type A
is_obsolete: true
replaced_by: MONDO:0002588

[Term]
id: MONDO:0016974
name: thymoma type B
def: "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." [NCIT:C7114]
subset: ordo_histopathological_subtype {source="Orphanet:263317"}
synonym: "Dendritic cell thymoma" EXACT [NCIT:C7114]
synonym: "dendritic cell thymoma" EXACT [MONDO:0002591]
synonym: "dendritic cell thymoma (disease)" EXACT [MONDO:patterns/location]
synonym: "epithelioid thymoma" EXACT [DOID:3282, NCIT:C7114]
synonym: "plump cell thymoma" EXACT [NCIT:C7114]
synonym: "primary thymic epithelial neoplasm type B" EXACT [Orphanet:263317]
synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317]
synonym: "thymoma type B" EXACT [NCIT:C7114]
xref: DOID:3282 {source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="ORDO:263317/ntbt", source="Orphanet:263317"}
xref: ICD10:D15.0 {source="ORDO:263317/ntbt", source="MONDO:relatedTo", source="Orphanet:263317"}
xref: NCIT:C7114 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21", source="DOID:3282"}
xref: Orphanet:263317 {source="MONDO:equivalentTo"}
xref: UMLS:C1328042 {source="NCIT:C7114", source="MONDO:equivalentTo", source="DOID:3282"}
xref: UMLS:CN202276 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004805 {source="DOID:3282", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disease
is_a: MONDO:0006456 {source="DOID:3282", source="MONDO:Redundant", source="MONDOLEX:0016974", source="NCIT:C7114", source="Orphanet:263317"} ! thymoma (disease)
property_value: exactMatch DOID:3282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202276
property_value: exactMatch NCIT:C7114
property_value: exactMatch Orphanet:263317

[Term]
id: MONDO:0016975
name: thymoma type AB
def: "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." [] {source="NCIT:C6885"}
subset: ordo_histopathological_subtype {source="Orphanet:263324"}
synonym: "mixed type thymoma" EXACT [NCIT:C6885]
synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324]
synonym: "primary thymic epithelial tumor type AB" EXACT [Orphanet:263324]
synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885]
synonym: "thymoma, mixed type" EXACT [DOID:3280]
xref: DOID:3280 {source="MONDO:equivalentTo"}
xref: EFO:1000582 {source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="ORDO:263324/ntbt", source="Orphanet:263324"}
xref: ICD10:D15.0 {source="MONDO:relatedTo", source="ORDO:263324/ntbt", source="Orphanet:263324"}
xref: ICDO:8582/1 {source="NCIT:C6885"}
xref: NCIT:C6885 {source="EFO:1000582", source="MONDO:equivalentTo", source="DOID:3280"}
xref: Orphanet:263324 {source="MONDO:equivalentTo"}
xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="NCIT:C6885", source="ORDO:263324/e", source="Orphanet:263324", source="DOID:3280"}
is_a: MONDO:0006456 {source="DOID:3280", source="EFO:1000582", source="MONDOLEX:0016975", source="NCIT:C6885", source="Orphanet:263324"} ! thymoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/128709000
property_value: exactMatch DOID:3280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266092
property_value: exactMatch NCIT:C6885
property_value: exactMatch Orphanet:263324

[Term]
id: MONDO:0016976
name: well-differentiated thymic neuroendocrine carcinoma
subset: ordo_histopathological_subtype {source="Orphanet:263331"}
xref: ICD10:C37 {source="Orphanet:263331", source="ORDO:263331/ntbt"}
xref: Orphanet:263331 {source="MONDO:equivalentTo"}
xref: SCTID:717922007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.23"}
xref: UMLS:CN202278 {source="MONDO:equivalentTo"}
is_a: MONDO:0020516 {source="MONDOLEX:0016976", source="Orphanet:263331", source="linkedlifedata"} ! thymic neuroendocrine carcinoma
property_value: exactMatch http://identifiers.org/snomedct/717922007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202278
property_value: exactMatch Orphanet:263331

[Term]
id: MONDO:0016977
name: moderately-differentiated thymic neuroendocrine carcinoma
subset: ordo_histopathological_subtype {source="Orphanet:263335"}
xref: ICD10:C37 {source="ORDO:263335/ntbt", source="Orphanet:263335"}
xref: Orphanet:263335 {source="MONDO:equivalentTo"}
xref: UMLS:CN202279 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020516 {source="MONDOLEX:0016977", source="Orphanet:263335"} ! thymic neuroendocrine carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202279
property_value: exactMatch Orphanet:263335

[Term]
id: MONDO:0016978
name: poorly differentiated thymic neuroendocrine carcinoma
subset: ordo_histopathological_subtype {source="Orphanet:263339"}
xref: ICD10:C37 {source="ORDO:263339/ntbt", source="Orphanet:263339"}
xref: Orphanet:263339 {source="MONDO:equivalentTo"}
xref: SCTID:717921000 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:CN202280 {source="MONDO:equivalentTo"}
is_a: MONDO:0020516 {source="MONDOLEX:0016978", source="Orphanet:263339"} ! thymic neuroendocrine carcinoma
property_value: exactMatch http://identifiers.org/snomedct/717921000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202280
property_value: exactMatch Orphanet:263339

[Term]
id: MONDO:0016979
name: MRCS syndrome
def: "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." [Orphanet:263347]
subset: ordo_disease {source="Orphanet:263347"}
synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" EXACT [Orphanet:263347]
xref: Orphanet:263347 {source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy
is_a: MONDO:0020225 {source="Orphanet:263347"} ! syndromic cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2674009
property_value: exactMatch Orphanet:263347

[Term]
id: MONDO:0016980
name: ATR-X-related syndrome
subset: ordo_group_of_disorders {source="Orphanet:263355"}
xref: Orphanet:263355 {source="MONDO:equivalentTo"}
xref: UMLS:CN202282 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:263355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:263355"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202282
property_value: exactMatch Orphanet:263355

[Term]
id: MONDO:0016981
name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
subset: ordo_disease {source="Orphanet:263410"}
synonym: "infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" RELATED [Orphanet:263410]
xref: Orphanet:263410 {source="MONDO:equivalentTo"}
xref: UMLS:CN202284 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:263410"} ! syndromic intellectual disability
is_a: MONDO:0017578 {source="Orphanet:263410"} ! disorder of thiamine metabolism and transport
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202284
property_value: exactMatch Orphanet:263410

[Term]
id: MONDO:0016982
name: angiosarcoma (disease)
def: "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." [NCIT:C3088]
subset: ordo_disease {source="Orphanet:263413"}
synonym: "angiosarcoma" EXACT [MONDO:ambiguous, NCIT:C3088]
synonym: "blood vessel sarcoma" EXACT []
synonym: "hemangiosarcoma" EXACT [DOID:0001816, NCIT:C3088]
synonym: "hemangiosarcoma, malignant" EXACT [NCIT:C3088]
synonym: "malignant angioendothelioma" EXACT [NCIT:C3088]
synonym: "malignant hemangioendothelioma" EXACT [NCIT:C3088]
synonym: "sarcoma of blood vessel" EXACT [MONDO:patterns/sarcoma]
synonym: "vascular sarcoma" EXACT []
xref: DOID:0001816 {source="MONDO:equivalentTo", source="EFO:0003968"}
xref: EFO:0003967 {source="MONDO:equivalentTo"}
xref: EFO:0003968 {source="MONDO:equivalentTo"}
xref: HP:0200058 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C49.9 {source="ORDO:263413/ntbt", source="Orphanet:263413"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9120/3 {source="NCIT:C3088"}
xref: MedDRA:10002476 {source="Orphanet:263413", source="ORDO:263413/e"}
xref: MESH:D006394 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968", source="MONDO:ontobio"}
xref: NCIT:C3088 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"}
xref: ONCOTREE:ANGS {source="MONDO:equivalentTo"}
xref: Orphanet:263413 {source="MONDO:equivalentTo"}
xref: SCTID:403977003 {source="DOID:0001816", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.73", source="EFO:0003968"}
xref: UMLS:C0018923 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3088", source="DOID:0001816", source="MONDO:equivalentTo", source="Orphanet:263413"}
is_a: MONDO:0002095 {source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! vascular cancer
is_a: MONDO:0018078 {source="Orphanet:263413"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/33176006
property_value: closeMatch http://identifiers.org/snomedct/39000009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0854893
property_value: exactMatch DOID:0001816
property_value: exactMatch http://identifiers.org/meddra/10002476
property_value: exactMatch http://identifiers.org/mesh/D006394
property_value: exactMatch http://identifiers.org/snomedct/403977003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018923
property_value: exactMatch NCIT:C3088
property_value: exactMatch Orphanet:263413

[Term]
id: MONDO:0016983
name: Bartter syndrome with hypocalcemia
def: "Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)" [Orphanet:263417]
subset: ordo_clinical_subtype {source="Orphanet:263417"}
synonym: "Bartter syndrome type 5" EXACT [Orphanet:263417]
synonym: "Bartter syndrome type V" EXACT [Orphanet:263417]
xref: ICD10:E26.8 {source="Orphanet:263417", source="ORDO:263417/attributed", source="ORDO:263417/ntbt"}
xref: Orphanet:263417 {source="MONDO:equivalentTo"}
xref: UMLS:C3715128 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015231 {source="MONDOLEX:0016983", source="Orphanet:263417"} ! Bartter syndrome
is_a: MONDO:0015895 {source="Orphanet:263417"} ! syndrome with hypoparathyroidism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3715128
property_value: exactMatch Orphanet:263417

[Term]
id: MONDO:0016984
name: nevus of Ota
def: "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma (see this term) may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito (see this term) or nevus spilus." [Orphanet:263425]
subset: ordo_disease {source="Orphanet:263425"}
synonym: "Nevus fusculoceruleus ophthalmomaxillaris" EXACT [Orphanet:263425]
synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583]
synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583]
synonym: "Ota's Nevus" EXACT [NCIT:C7583]
xref: EFO:1000396 {source="MONDO:equivalentTo"}
xref: ICD10:D22.3 {source="ORDO:263425/ntbt", source="Orphanet:263425"}
xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051713 {source="ORDO:263425/e", source="Orphanet:263425"}
xref: MESH:D009507 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7583 {source="EFO:1000396", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:263425 {source="MONDO:equivalentTo"}
xref: SCTID:414929001 {source="MONDO:kboom-pr-1.00/0.78/6.83", source="MONDO:equivalentTo"}
xref: UMLS:C0027961 {source="NCIT:C7583", source="MONDO:equivalentTo", source="ORDO:263425/e", source="Orphanet:263425"}
is_a: MONDO:0005073 {source="Orphanet:263425"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10051713
property_value: exactMatch http://identifiers.org/mesh/D009507
property_value: exactMatch http://identifiers.org/snomedct/414929001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027961
property_value: exactMatch NCIT:C7583
property_value: exactMatch Orphanet:263425

[Term]
id: MONDO:0016985
name: nevus of Ito
def: "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota (see this term), except its anatomic location and may in rare occasions occur together with the latter." [Orphanet:263432]
subset: ordo_disease {source="Orphanet:263432"}
synonym: "hypomelanosis of Ito" EXACT [NCIT:C7582]
synonym: "Ito's Nevus" EXACT [NCIT:C7582]
synonym: "nevi of Ito" RELATED [GARD:0010830]
synonym: "Nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432]
xref: EFO:1000395 {source="MONDO:equivalentTo"}
xref: GARD:0010830 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D22.6 {source="ORDO:263432/ntbt", source="Orphanet:263432"}
xref: NCIT:C7582 {source="EFO:1000395", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.14"}
xref: Orphanet:263432 {source="MONDO:equivalentTo"}
xref: UMLS:C0022283 {source="NCIT:C7582", source="ORDO:263432/e", source="MONDO:equivalentTo", source="Orphanet:263432"}
xref: UMLS:CN202288 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:263432"} ! melanocytic nevus
relationship: disease_shares_features_of MONDO:0016984 ! nevus of Ota
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202288
property_value: exactMatch NCIT:C7582
property_value: exactMatch Orphanet:263432

[Term]
id: MONDO:0016986
name: congenital smooth muscle hamartoma
def: "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." [Orphanet:263435]
subset: ordo_disease {source="Orphanet:263435"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:263435 {source="MONDO:equivalentTo"}
xref: SCTID:239144007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.04"}
xref: UMLS:C0406819 {source="MONDO:equivalentTo", source="Orphanet:263435", source="ORDO:263435/e"}
is_a: MONDO:0006499 ! hamartoma (disease)
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:263435"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/snomedct/239144007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406819
property_value: exactMatch Orphanet:263435

[Term]
id: MONDO:0016987
name: neuroacanthocytosis
def: "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." [Orphanet:263440]
subset: ordo_group_of_disorders {source="Orphanet:263440"}
synonym: "neuroacanthocytosis syndrome" RELATED [GARD:0010902]
xref: DOID:0050765 {source="MONDO:equivalentTo"}
xref: GARD:0010902 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: NCIT:C84926 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.70/1.46"}
xref: Orphanet:263440 {source="MONDO:equivalentTo"}
is_a: MONDO:0015548 {source="Orphanet:263440"} ! Huntington disease-like syndrome
is_a: MONDO:0017662 {source="Orphanet:263440"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:263440"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch DOID:0050765
property_value: exactMatch NCIT:C84926
property_value: exactMatch Orphanet:263440

[Term]
id: MONDO:0016988
name: hyperinsulinism due to HNF4A deficiency
def: "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term)." [Orphanet:263455]
subset: ordo_disease {source="Orphanet:263455"}
synonym: "hyperinsulinemic hypoglycemia due to HNF4A deficiency" EXACT [Orphanet:263455]
xref: ICD10:E16.1 {source="ORDO:263455/attributed", source="ORDO:263455/ntbt", source="Orphanet:263455"}
xref: Orphanet:263455 {source="MONDO:equivalentTo"}
xref: SCTID:717048002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015624 {source="Orphanet:263455"} ! diazoxide-sensitive diffuse hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/717048002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274078
property_value: exactMatch Orphanet:263455

[Term]
id: MONDO:0016989
name: Fuchs heterochromic iridocyclitis
def: "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." [Orphanet:263479]
subset: ordo_disease {source="Orphanet:263479"}
synonym: "FHI" EXACT [Orphanet:263479]
synonym: "Fuchs heterochromic cyclitis" RELATED [GARD:0006791]
synonym: "Fuchs heterochromic uveitis" RELATED [GARD:0006791]
xref: GARD:0006791 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H20.8 {source="ORDO:263479/ntbt", source="Orphanet:263479"}
xref: MedDRA:10017406 {source="Orphanet:263479", source="ORDO:263479/e"}
xref: Orphanet:263479 {source="MONDO:equivalentTo"}
is_a: MONDO:0017634 {source="Orphanet:263479"} ! non-infectious anterior uveitis
property_value: exactMatch http://identifiers.org/meddra/10017406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016782
property_value: exactMatch Orphanet:263479

[Term]
id: MONDO:0016990
name: acquired prothrombin deficiency
def: "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_disease {source="Orphanet:26348"}
synonym: "acquired factor II deficiency" RELATED [GARD:0000475]
synonym: "acquired hypoprothrombinemia" EXACT [Orphanet:26348]
synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired]
synonym: "hypoprothrombinemia, acquired" RELATED [GARD:0000475]
xref: GARD:0000475 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D68.4 {source="ORDO:26348/ntbt", source="Orphanet:26348"}
xref: MESH:C538174 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131622 {source="MONDO:equivalentTo"}
xref: Orphanet:26348 {source="MONDO:equivalentTo"}
xref: SCTID:4152002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.21"}
xref: UMLS:C0392610 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:26348"}
is_a: MONDO:0015662 {source="Orphanet:26348"} ! hemorrhagic disorder due to an acquired coagulation factor defect
is_a: MONDO:0024307 ! prothrombin deficiency
intersection_of: MONDO:0024307 ! prothrombin deficiency
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0013361 {source="MESH:C538174"} ! congenital prothrombin deficiency
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C538174
property_value: exactMatch http://identifiers.org/snomedct/4152002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392610
property_value: exactMatch NCIT:C131622
property_value: exactMatch Orphanet:26348

[Term]
id: MONDO:0016991
name: acute necrotizing encephalopathy of childhood
def: "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." [Orphanet:263524]
subset: ordo_disease {source="Orphanet:263524"}
synonym: "ANEC" EXACT [Orphanet:263524]
synonym: "isolated acute necrotizing encephalopathy" EXACT [Orphanet:263524]
synonym: "isolated ANE" EXACT [Orphanet:263524]
xref: ICD10:G31.8 {source="ORDO:263524/ntbt", source="Orphanet:263524"}
xref: Orphanet:263524 {source="MONDO:equivalentTo"}
xref: SCTID:763310000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020067 {source="Orphanet:263524"} ! infectious encephalitis
property_value: exactMatch http://identifiers.org/snomedct/763310000
property_value: exactMatch Orphanet:263524

[Term]
id: MONDO:0016992
name: peeling skin syndrome type B
def: "Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." [Orphanet:263553]
subset: ordo_clinical_subtype {source="Orphanet:263553"}
synonym: "generalized deciduous skin type B" EXACT [Orphanet:263553]
synonym: "generalized peeling skin syndrome type B" EXACT [Orphanet:263553]
synonym: "inflammatory peeling skin syndrome" EXACT [Orphanet:263553]
synonym: "PSS type B" EXACT [Orphanet:263553]
xref: ICD10:Q80.8 {source="ORDO:263553/attributed", source="ORDO:263553/ntbt", source="Orphanet:263553"}
xref: Orphanet:263553 {source="MONDO:equivalentTo"}
xref: UMLS:CN202306 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010033 {source="MONDOLEX:0016992", source="Orphanet:263553"} ! generalized peeling skin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202306
property_value: exactMatch Orphanet:263553

[Term]
id: MONDO:0016993
name: generalized peeling skin syndrome type C
subset: ordo_clinical_subtype {source="Orphanet:263558"}
synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558]
synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558]
xref: ICD10:Q80.8 {source="ORDO:263558/attributed", source="ORDO:263558/ntbt", source="Orphanet:263558"}
xref: Orphanet:263558 {source="MONDO:equivalentTo"}
xref: UMLS:CN202307 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010033 {source="MONDOLEX:0016993", source="Orphanet:263558"} ! generalized peeling skin syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202307
property_value: exactMatch Orphanet:263558

[Term]
id: MONDO:0016994
name: microcephalic osteodysplastic primordial dwarfism types I and III
def: "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." [Orphanet:2636]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2636"}
synonym: "Brachymelic primordial dwarfism" RELATED [GARD:0005120]
synonym: "Cephaloskeletal dysplasia" RELATED [GARD:0005120]
synonym: "low-birth-weight dwarfism with skeletal dysplasia" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism type 1" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism types 1 and 3" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type" EXACT [Orphanet:2636]
synonym: "MOPD 1" RELATED [GARD:0005120]
synonym: "MOPD types I and III" EXACT [Orphanet:2636]
synonym: "osteodysplastic primordial dwarfism type I" RELATED [GARD:0005120]
synonym: "primordial microcephalic dwarfism, Crachami type" EXACT [GARD:0005120, Orphanet:2636]
synonym: "Taybi-Linder syndrome" EXACT [Orphanet:2636]
xref: GARD:0005120 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:2636/attributed", source="ORDO:2636/ntbt", source="Orphanet:2636"}
xref: Orphanet:2636 {source="MONDO:equivalentTo", source="GARD:0005120"}
xref: SCTID:725461009 {source="MONDO:equivalentTo"}
xref: UMLS:CN202308 {source="MONDO:equivalentTo"}
is_a: MONDO:0017950 {source="Orphanet:2636"} ! microcephalic primordial dwarfism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859452
property_value: exactMatch http://identifiers.org/snomedct/725461009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202308
property_value: exactMatch Orphanet:2636
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 xsd:anyURI {source="GARD:0005120"}

[Term]
id: MONDO:0016995
name: familial multiple meningioma
def: "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." [Orphanet:263662]
subset: ordo_disease {source="Orphanet:263662"}
xref: ICD10:D32.9 {source="Orphanet:263662", source="ORDO:263662/ntbt"}
xref: Orphanet:263662 {source="MONDO:equivalentTo"}
xref: UMLS:CN202309 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016743 {source="Orphanet:263662"} ! tumor of meninges
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202309
property_value: exactMatch Orphanet:263662

[Term]
id: MONDO:0016996
name: NK-cell enteropathy
def: "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms)." [Orphanet:263665]
comment: Editor note: TODO - complete axioms
subset: ordo_disease {source="Orphanet:263665"}
xref: ICD10:K63.8 {source="ORDO:263665/ntbt", source="Orphanet:263665"}
xref: Orphanet:263665 {source="MONDO:equivalentTo"}
xref: SCTID:723496007 {source="MONDO:equivalentTo"}
xref: UMLS:C4509932 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019997"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/723496007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509932
property_value: exactMatch Orphanet:263665

[Term]
id: MONDO:0016997
name: hereditary epidermolysis bullosa associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:263676"}
xref: Orphanet:263676 {source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:263676"} ! genodermatosis with ocular features
property_value: exactMatch Orphanet:263676

[Term]
id: MONDO:0016998
name: complex chromosomal rearrangement
subset: ordo_group_of_disorders {source="Orphanet:263708"}
xref: Orphanet:263708 {source="MONDO:equivalentTo"}
is_a: MONDO:0020049 {source="Orphanet:263708"} ! autosomal anomaly
property_value: exactMatch Orphanet:263708

[Term]
id: MONDO:0016999
name: X chromosome number anomaly
subset: ordo_group_of_disorders {source="Orphanet:263714"}
xref: Orphanet:263714 {source="MONDO:equivalentTo"}
is_a: MONDO:0020059 {source="Orphanet:263714"} ! gonosome number anomaly
property_value: exactMatch Orphanet:263714

[Term]
id: MONDO:0017000
name: X chromosome number anomaly with female phenotype
subset: ordo_group_of_disorders {source="Orphanet:263717"}
xref: Orphanet:263717 {source="MONDO:equivalentTo"}
is_a: MONDO:0016999 {source="Orphanet:263717"} ! X chromosome number anomaly
property_value: exactMatch Orphanet:263717

[Term]
id: MONDO:0017001
name: X chromosome number anomaly with male phenotype
subset: ordo_group_of_disorders {source="Orphanet:263720"}
xref: Orphanet:263720 {source="MONDO:equivalentTo"}
is_a: MONDO:0016999 {source="Orphanet:263720"} ! X chromosome number anomaly
property_value: exactMatch Orphanet:263720

[Term]
id: MONDO:0017002
name: polysomy of X chromosome
subset: ordo_group_of_disorders {source="Orphanet:263723"}
xref: Orphanet:263723 {source="MONDO:equivalentTo"}
is_a: MONDO:0017000 {source="Orphanet:263723"} ! X chromosome number anomaly with female phenotype
property_value: exactMatch Orphanet:263723

[Term]
id: MONDO:0017003
name: partial deletion of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:261811", source="Orphanet:263726"}
synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1, Orphanet:263726]
synonym: "partial monosomy of chromosome X" EXACT [Orphanet:263726]
xref: ICD10:Q99.8 {source="ORDO:263726/attributed", source="ORDO:263726/ntbt", source="Orphanet:263726"}
xref: Orphanet:263726 {source="MONDO:equivalentTo"}
is_a: MONDO:0020062 {source="Orphanet:263726"} ! chromosome X structural anomaly
property_value: exactMatch Orphanet:263726

[Term]
id: MONDO:0017004
name: partial monosomy of the short arm of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:263731"}
synonym: "partial deletion of chromosome Xp" EXACT [Orphanet:263731]
synonym: "partial deletion of the short arm of chromosome X" EXACT [Orphanet:263731]
synonym: "partial monosomy of chromosome Xp" EXACT [Orphanet:263731]
synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263731]
xref: ICD10:Q99.8 {source="ORDO:263731/attributed", source="ORDO:263731/ntbt", source="Orphanet:263731"}
xref: Orphanet:263731 {source="MONDO:equivalentTo"}
is_a: MONDO:0017003 {source="Orphanet:263731"} ! partial deletion of chromosome X
property_value: exactMatch Orphanet:263731

[Term]
id: MONDO:0017005
name: Y chromosome number anomaly
subset: ordo_group_of_disorders {source="Orphanet:263746"}
xref: Orphanet:263746 {source="MONDO:equivalentTo"}
is_a: MONDO:0020059 {source="Orphanet:263746"} ! gonosome number anomaly
property_value: exactMatch Orphanet:263746

[Term]
id: MONDO:0017006
name: X and Y chromosomal anomaly
subset: ordo_group_of_disorders {source="Orphanet:263749"}
xref: ICD10:Q98.8 {source="ORDO:263749/attributed", source="ORDO:263749/ntbt", source="Orphanet:263749"}
xref: Orphanet:263749 {source="MONDO:equivalentTo"}
is_a: MONDO:0020059 {source="Orphanet:263749"} ! gonosome number anomaly
property_value: exactMatch Orphanet:263749

[Term]
id: MONDO:0017007
name: partial deletion of the long arm of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:263756"}
synonym: "partial deletion of chromosome Xq" EXACT [Orphanet:263756]
synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263756]
synonym: "partial monosomy of chromosome Xq" EXACT [Orphanet:263756]
synonym: "partial monosomy of the long arm of chromosome X" EXACT [Orphanet:263756]
xref: ICD10:Q99.8 {source="ORDO:263756/attributed", source="ORDO:263756/ntbt", source="Orphanet:263756"}
xref: Orphanet:263756 {source="MONDO:equivalentTo"}
is_a: MONDO:0017003 {source="Orphanet:263756"} ! partial deletion of chromosome X
property_value: exactMatch Orphanet:263756

[Term]
id: MONDO:0017008
name: partial duplication of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:263768", source="Orphanet:262648"}
synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1, Orphanet:263768]
synonym: "partial trisomy of chromosome X" EXACT [Orphanet:263768]
xref: ICD10:Q99.8 {source="ORDO:263768/attributed", source="ORDO:263768/ntbt", source="Orphanet:263768"}
xref: Orphanet:263768 {source="MONDO:equivalentTo"}
is_a: MONDO:0020062 {source="Orphanet:263768"} ! chromosome X structural anomaly
property_value: exactMatch Orphanet:263768

[Term]
id: MONDO:0017009
name: partial duplication of the short arm of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:263775", source="Orphanet:262776"}
synonym: "partial duplication of chromosome Xp" EXACT [Orphanet:263775]
synonym: "partial duplication of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263775]
synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421, Orphanet:263775]
synonym: "partial trisomy of the short arm of chromosome X" EXACT [Orphanet:263775]
xref: GARD:0012421 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q99.8 {source="ORDO:263775/attributed", source="ORDO:263775/ntbt", source="Orphanet:263775"}
xref: Orphanet:263775 {source="MONDO:equivalentTo"}
is_a: MONDO:0017008 {source="Orphanet:263775"} ! partial duplication of chromosome X
property_value: exactMatch Orphanet:263775

[Term]
id: MONDO:0017010
name: partial duplication of the long arm of chromosome X
def: "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature , abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005369]
subset: gard_rare
subset: ordo_group_of_disorders
synonym: "chromosome Xq duplication" RELATED [GARD:0005369]
synonym: "Duplication Xq" RELATED [GARD:0005369]
synonym: "partial duplication of chromosome Xq" EXACT [Orphanet:263783]
synonym: "partial duplication of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263783]
synonym: "partial trisomy of chromosome Xq" EXACT [Orphanet:263783]
synonym: "partial trisomy of the long arm of chromosome X" EXACT [Orphanet:263783]
synonym: "partial trisomy Xq" RELATED [GARD:0005369]
synonym: "trisomy Xq" RELATED [GARD:0005369]
synonym: "Xq duplication" RELATED [GARD:0005369]
synonym: "Xq trisomy" RELATED [GARD:0005369]
xref: GARD:0005369 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="Orphanet:263783", source="ORDO:263783/attributed", source="ORDO:263783/ntbt"}
xref: MESH:C536732 {source="MONDO:equivalentTo"}
xref: Orphanet:263783 {source="MONDO:equivalentTo"}
xref: UMLS:C0795891 {source="MONDO:equivalentTo"}
is_a: MONDO:0017008 {source="Orphanet:262914", source="Orphanet:263783"} ! partial duplication of chromosome X
property_value: exactMatch http://identifiers.org/mesh/C536732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795891
property_value: exactMatch Orphanet:263783

[Term]
id: MONDO:0017011
name: uniparental disomy of chromosome X
subset: ordo_group_of_disorders {source="Orphanet:263793"}
synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793]
synonym: "UPD(X)" EXACT [Orphanet:263793]
xref: ICD10:Q99.8 {source="Orphanet:263793", source="ORDO:263793/attributed", source="ORDO:263793/ntbt"}
xref: Orphanet:263793 {source="MONDO:equivalentTo"}
is_a: MONDO:0020062 {source="Orphanet:263793"} ! chromosome X structural anomaly
property_value: exactMatch Orphanet:263793

[Term]
id: MONDO:0017012
name: partial duplication of the short arm of chromosome 1
subset: ordo_group_of_disorders {source="Orphanet:264431"}
synonym: "partial duplication of chromosome 1p" EXACT [Orphanet:264431]
synonym: "partial duplication of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:264431]
synonym: "partial trisomy of chromosome 1p" EXACT [Orphanet:264431]
xref: Orphanet:264431 {source="MONDO:equivalentTo"}
is_a: MONDO:0016921 {source="Orphanet:264431"} ! partial duplication of chromosome 1
property_value: exactMatch Orphanet:264431

[Term]
id: MONDO:0017013
name: trisomy 8p
def: "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." [Orphanet:264450]
subset: ordo_malformation_syndrome {source="Orphanet:264450"}
synonym: "Duplication 8p" EXACT [Orphanet:264450]
synonym: "trisomy type 8p" EXACT [MONDORULE:4, Orphanet:264450]
xref: ICD10:Q92.2 {source="Orphanet:264450", source="ORDO:264450/attributed", source="ORDO:264450/ntbt"}
xref: MESH:C538019 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:264450 {source="MONDO:equivalentTo"}
is_a: MONDO:0016945 {source="MONDOLEX:0017013", source="Orphanet:264450"} ! partial duplication of the short arm of chromosome 8
property_value: exactMatch http://identifiers.org/mesh/C538019
property_value: exactMatch Orphanet:264450

[Term]
id: MONDO:0017014
name: interstitial lung disease specific to childhood
def: "A interstitial lung disease that occurs during childhood." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:264656"}
synonym: "childhood interstitial lung disease" EXACT []
synonym: "ILD specific to childhood" EXACT [Orphanet:264656]
synonym: "interstitial lung disease of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric interstitial lung disease" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric interstitial lung disease" RELATED [MONDO:patterns/childhood]
xref: Orphanet:264656 {source="MONDO:equivalentTo"}
xref: SCTID:328661000119108 {source="MONDO:equivalentTo"}
xref: UMLS:CN202324 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015925 {source="MONDO:Redundant", source="MONDOLEX:0017014", source="Orphanet:264656"} ! interstitial lung disease
property_value: exactMatch http://identifiers.org/snomedct/328661000119108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202324
property_value: exactMatch Orphanet:264656

[Term]
id: MONDO:0017015
name: primary interstitial lung disease specific to childhood
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:264665"}
synonym: "child" RELATED [GARD:0010559]
synonym: "children's interstitial lung disease" RELATED [GARD:0010559]
synonym: "primary ILD specific to childhood" EXACT [GARD:0010559, Orphanet:264665]
synonym: "primary interstitial lung disease specific to childhood" EXACT [GARD:0010559]
xref: GARD:0010559 {source="MONDO:equivalentTo"}
xref: Orphanet:264665 {source="MONDO:equivalentTo", source="GARD:0010559"}
xref: UMLS:CN202326 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017014 {source="MONDOLEX:0017015", source="Orphanet:264665"} ! interstitial lung disease specific to childhood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202326
property_value: exactMatch Orphanet:264665
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease xsd:anyURI {source="GARD:0010559"}

[Term]
id: MONDO:0017016
name: primary interstitial lung disease specific to childhood due to alveolar structure disorder
subset: ordo_group_of_disorders {source="Orphanet:264670"}
synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [Orphanet:264670]
xref: Orphanet:264670 {source="MONDO:equivalentTo"}
xref: UMLS:CN202327 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017015 {source="MONDOLEX:0017016", source="Orphanet:264670"} ! primary interstitial lung disease specific to childhood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202327
property_value: exactMatch Orphanet:264670

[Term]
id: MONDO:0017017
name: primary interstitial lung disease specific to childhood due to alveolar vascular disorder
subset: ordo_group_of_disorders {source="Orphanet:264683"}
synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [Orphanet:264683]
xref: Orphanet:264683 {source="MONDO:equivalentTo"}
xref: UMLS:CN202329 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017015 {source="MONDOLEX:0017017", source="Orphanet:264683"} ! primary interstitial lung disease specific to childhood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202329
property_value: exactMatch Orphanet:264683

[Term]
id: MONDO:0017018
name: isolated pulmonary capillaritis
def: "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." [Orphanet:264691]
subset: ordo_disease {source="Orphanet:264691"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:264691 {source="MONDO:equivalentTo"}
xref: SCTID:707436001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: UMLS:C3873357 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017017 {source="Orphanet:264691"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3854530
property_value: exactMatch http://identifiers.org/snomedct/707436001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3873357
property_value: exactMatch Orphanet:264691

[Term]
id: MONDO:0017019
name: interstitial lung disease specific to infancy
subset: ordo_group_of_disorders {source="Orphanet:264694"}
synonym: "ILD specific to infancy" EXACT [Orphanet:264694]
xref: Orphanet:264694 {source="MONDO:equivalentTo"}
xref: UMLS:CN202332 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017015 {source="Orphanet:264694"} ! primary interstitial lung disease specific to childhood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202332
property_value: exactMatch Orphanet:264694

[Term]
id: MONDO:0017020
name: secondary interstitial lung disease specific to childhood associated with a systemic disease
subset: ordo_group_of_disorders {source="Orphanet:264699"}
synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [Orphanet:264699]
xref: Orphanet:264699 {source="MONDO:equivalentTo"}
xref: UMLS:CN202333 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017014 {source="MONDOLEX:0017020", source="Orphanet:264699"} ! interstitial lung disease specific to childhood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202333
property_value: exactMatch Orphanet:264699

[Term]
id: MONDO:0017021
name: secondary interstitial lung disease specific to childhood associated with a connective tissue disease
subset: ordo_group_of_disorders {source="Orphanet:264704"}
synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [Orphanet:264704]
xref: Orphanet:264704 {source="MONDO:equivalentTo"}
xref: UMLS:CN202334 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017020 {source="Orphanet:264704"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202334
property_value: exactMatch Orphanet:264704

[Term]
id: MONDO:0017022
name: secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
subset: ordo_group_of_disorders {source="Orphanet:264709"}
synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [Orphanet:264709]
xref: Orphanet:264709 {source="MONDO:equivalentTo"}
xref: UMLS:CN202335 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017020 {source="Orphanet:264709"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202335
property_value: exactMatch Orphanet:264709

[Term]
id: MONDO:0017023
name: secondary interstitial lung disease specific to childhood associated with a granulomatous disease
subset: ordo_group_of_disorders {source="Orphanet:264714"}
synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [Orphanet:264714]
xref: Orphanet:264714 {source="MONDO:equivalentTo"}
xref: UMLS:CN202336 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017020 {source="Orphanet:264714"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202336
property_value: exactMatch Orphanet:264714

[Term]
id: MONDO:0017024
name: secondary interstitial lung disease specific to childhood associated with a metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:264719"}
synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [Orphanet:264719]
xref: Orphanet:264719 {source="MONDO:equivalentTo"}
xref: UMLS:CN202337 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017020 {source="Orphanet:264719"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202337
property_value: exactMatch Orphanet:264719

[Term]
id: MONDO:0017025
name: Langerhans cell histiocytosis specific to childhood
def: "Langerhans cell histiocytosis that occurs during childhood." [NCIT:C114483]
subset: ordo_group_of_disorders {source="Orphanet:264724"}
synonym: "childhood Langerhans cell histiocytosis" EXACT [NCIT:C114483]
synonym: "histiocytosis X specific to childhood" EXACT [Orphanet:264724]
synonym: "Langerhans cell granulomatosis specific to childhood" EXACT [Orphanet:264724]
synonym: "Langerhans cell histiocytosis" EXACT [NCIT:C114483]
xref: NCIT:C114483 {source="MONDO:equivalentTo"}
xref: Orphanet:264724 {source="MONDO:equivalentTo"}
xref: UMLS:C3899655 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0017020 {source="Orphanet:264724"} ! secondary interstitial lung disease specific to childhood associated with a systemic disease
is_a: MONDO:0018310 {source="MONDOLEX:0017025", source="NCIT:C114483"} ! Langerhans cell histiocytosis
is_a: MONDO:0021079 ! childhood neoplasm
is_a: MONDO:0021117 ! lung neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3899655
property_value: exactMatch NCIT:C114483
property_value: exactMatch Orphanet:264724

[Term]
id: MONDO:0017026
name: interstitial lung disease specific to adulthood
subset: ordo_group_of_disorders {source="Orphanet:264735"}
synonym: "ILD specific to adulthood" EXACT [Orphanet:264735]
xref: Orphanet:264735 {source="MONDO:equivalentTo"}
xref: UMLS:CN202338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015925 {source="MONDOLEX:0017026", source="Orphanet:264735"} ! interstitial lung disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202338
property_value: exactMatch Orphanet:264735

[Term]
id: MONDO:0017027
name: primary interstitial lung disease specific to adulthood
subset: ordo_group_of_disorders {source="Orphanet:264740"}
synonym: "primary ILD specific to adulthood" EXACT [Orphanet:264740]
xref: Orphanet:264740 {source="MONDO:equivalentTo"}
xref: UMLS:CN202339 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017026 {source="MONDOLEX:0017027", source="Orphanet:264740"} ! interstitial lung disease specific to adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202339
property_value: exactMatch Orphanet:264740

[Term]
id: MONDO:0017028
name: secondary interstitial lung disease specific to adulthood associated with a systemic disease
subset: ordo_group_of_disorders {source="Orphanet:264745"}
synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [Orphanet:264745]
xref: Orphanet:264745 {source="MONDO:equivalentTo"}
xref: UMLS:CN202340 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017026 {source="MONDOLEX:0017028", source="Orphanet:264745"} ! interstitial lung disease specific to adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202340
property_value: exactMatch Orphanet:264745

[Term]
id: MONDO:0017029
name: Langerhans cell histiocytosis specific to adulthood
def: "Langerhans cell histiocytosis that occurs during adulthood." [NCIT:C114929]
subset: ordo_group_of_disorders {source="Orphanet:264750"}
synonym: "adult Langerhans cell histiocytosis" EXACT [NCIT:C114929]
synonym: "histiocytosis X specific to adulthood" EXACT [Orphanet:264750]
synonym: "Langerhans cell granulomatosis specific to adulthood" EXACT [Orphanet:264750]
synonym: "Langerhans cell histiocytosis" EXACT [NCIT:C114929]
xref: NCIT:C114929 {source="MONDO:equivalentTo"}
xref: Orphanet:264750 {source="MONDO:equivalentTo"}
xref: UMLS:C3900100 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0017028 {source="Orphanet:264750"} ! secondary interstitial lung disease specific to adulthood associated with a systemic disease
is_a: MONDO:0018310 {source="MONDOLEX:0017029", source="NCIT:C114929"} ! Langerhans cell histiocytosis
is_a: MONDO:0021117 ! lung neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3900100
property_value: exactMatch NCIT:C114929
property_value: exactMatch Orphanet:264750

[Term]
id: MONDO:0017030
name: interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264757"}
synonym: "ILD in childhood and adulthood" EXACT [Orphanet:264757]
xref: Orphanet:264757 {source="MONDO:equivalentTo"}
xref: UMLS:CN202341 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015925 {source="MONDOLEX:0017030", source="Orphanet:264757"} ! interstitial lung disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202341
property_value: exactMatch Orphanet:264757

[Term]
id: MONDO:0017031
name: primary interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264762"}
synonym: "primary ILD in childhood and adulthood" EXACT [Orphanet:264762]
xref: Orphanet:264762 {source="MONDO:equivalentTo"}
xref: UMLS:CN202342 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017030 {source="MONDOLEX:0017031", source="Orphanet:264762"} ! interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202342
property_value: exactMatch Orphanet:264762

[Term]
id: MONDO:0017032
name: primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
subset: ordo_group_of_disorders {source="Orphanet:264930"}
synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [Orphanet:264930]
xref: Orphanet:264930 {source="MONDO:equivalentTo"}
xref: UMLS:CN202344 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017031 {source="MONDOLEX:0017032", source="Orphanet:264930"} ! primary interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202344
property_value: exactMatch Orphanet:264930

[Term]
id: MONDO:0017033
name: primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
subset: ordo_group_of_disorders {source="Orphanet:264935"}
synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [Orphanet:264935]
xref: Orphanet:264935 {source="MONDO:equivalentTo"}
xref: UMLS:CN202345 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017031 {source="MONDOLEX:0017033", source="Orphanet:264935"} ! primary interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202345
property_value: exactMatch Orphanet:264935

[Term]
id: MONDO:0017034
name: secondary interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264944"}
synonym: "secondary ILD in childhood and adulthood" EXACT [Orphanet:264944]
xref: Orphanet:264944 {source="MONDO:equivalentTo"}
xref: UMLS:CN202346 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017030 {source="MONDOLEX:0017034", source="Orphanet:264944"} ! interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202346
property_value: exactMatch Orphanet:264944

[Term]
id: MONDO:0017035
name: secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
subset: ordo_group_of_disorders {source="Orphanet:264949"}
synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [Orphanet:264949]
xref: Orphanet:264949 {source="MONDO:equivalentTo"}
xref: UMLS:CN202347 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017034 {source="MONDOLEX:0017035", source="Orphanet:264949"} ! secondary interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202347
property_value: exactMatch Orphanet:264949

[Term]
id: MONDO:0017036
name: Langerhans cell histiocytosis in childhood and adulthood
comment: Editor note: check semantics
subset: ordo_group_of_disorders {source="Orphanet:264955"}
synonym: "histiocytosis X in childhood and adulthood" EXACT [Orphanet:264955]
synonym: "Langerhans cell granulomatosis in childhood and adulthood" EXACT [Orphanet:264955]
xref: Orphanet:264955 {source="MONDO:equivalentTo"}
is_a: MONDO:0017035 {source="Orphanet:264955"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
is_a: MONDO:0018310 {source="MONDO:cjm", source="MONDOLEX:0017036"} ! Langerhans cell histiocytosis
is_a: MONDO:0021117 ! lung neoplasm
property_value: exactMatch Orphanet:264955

[Term]
id: MONDO:0017037
name: secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:264968"}
synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [Orphanet:264968]
xref: Orphanet:264968 {source="MONDO:equivalentTo"}
xref: UMLS:CN202348 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017035 {source="Orphanet:264968"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202348
property_value: exactMatch Orphanet:264968

[Term]
id: MONDO:0017038
name: secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
subset: ordo_group_of_disorders {source="Orphanet:264973"}
synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [Orphanet:264973]
xref: Orphanet:264973 {source="MONDO:equivalentTo"}
xref: UMLS:CN202349 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017035 {source="Orphanet:264973"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202349
property_value: exactMatch Orphanet:264973

[Term]
id: MONDO:0017039
name: drug or radiation exposure-related interstitial lung disease
subset: ordo_clinical_situation {source="Orphanet:264978"}
xref: ICD10:J70.0 {source="ORDO:264978/btnt", source="Orphanet:264978"}
xref: ICD10:J70.1 {source="ORDO:264978/btnt", source="Orphanet:264978"}
xref: ICD10:J70.2 {source="ORDO:264978/btnt", source="Orphanet:264978"}
xref: ICD10:J70.3 {source="ORDO:264978/btnt", source="Orphanet:264978"}
xref: ICD10:J70.4 {source="ORDO:264978/btnt", source="Orphanet:264978"}
xref: Orphanet:264978 {source="MONDO:equivalentTo"}
xref: UMLS:CN202350 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017040 {source="Orphanet:264978"} ! exposure-related interstitial lung disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202350
property_value: exactMatch Orphanet:264978

[Term]
id: MONDO:0017040
name: exposure-related interstitial lung disease
subset: ordo_group_of_disorders {source="Orphanet:264984"}
xref: Orphanet:264984 {source="MONDO:equivalentTo"}
xref: UMLS:CN202351 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017034 {source="Orphanet:264984"} ! secondary interstitial lung disease in childhood and adulthood
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202351
property_value: exactMatch Orphanet:264984

[Term]
id: MONDO:0017041
name: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
def: "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." [Orphanet:2653]
subset: ordo_malformation_syndrome {source="Orphanet:2653"}
synonym: "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" EXACT [Orphanet:2653]
xref: Orphanet:2653 {source="MONDO:equivalentTo"}
xref: SCTID:722108000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:CN202358 {source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:2653"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:2653"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://identifiers.org/snomedct/722108000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202358
property_value: exactMatch Orphanet:2653

[Term]
id: MONDO:0017042
name: thanatophoric dysplasia
def: "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." [Orphanet:2655]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2655"}
synonym: "dwarfism thanatophoric" RELATED [GARD:0000085]
synonym: "Td" EXACT [Orphanet:2655]
synonym: "thanatophoric dwarfism" EXACT [Orphanet:2655]
xref: DOID:13481 {source="MONDO:equivalentTo"}
xref: GARD:0000085 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.1 {source="ORDO:2655/specific", source="ORDO:2655/e", source="DOID:13481", source="Orphanet:2655"}
xref: ICD9:259.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049808 {source="ORDO:2655/e", source="Orphanet:2655"}
xref: MESH:D013796 {source="MONDO:equivalentTo", source="DOID:13481"}
xref: NCIT:C85187 {source="MONDO:equivalentTo", source="DOID:13481", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:2655 {source="MONDO:equivalentTo", source="DOID:13481", source="GARD:0000085"}
xref: SCTID:29352008 {source="MONDO:equivalentTo", source="DOID:13481", source="MONDO:kboom-pr-0.88/0.75/0.06"}
xref: UMLS:C0039743 {source="ORDO:2655/e", source="MONDO:equivalentTo", source="DOID:13481", source="Orphanet:2655", source="NCIT:C85187"}
is_a: MONDO:0005516 {source="DOID:13481", source="MESH:D013796/inferred", source="linkedlifedata"} ! osteochondrodysplasia
is_a: MONDO:0018232 {source="Orphanet:2655"} ! primary bone dysplasia with micromelia
is_a: MONDO:0019685 {source="Orphanet:2655"} ! FGFR3-related chondrodysplasia
property_value: exactMatch DOID:13481
property_value: exactMatch http://identifiers.org/meddra/10049808
property_value: exactMatch http://identifiers.org/mesh/D013796
property_value: exactMatch http://identifiers.org/snomedct/29352008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039743
property_value: exactMatch NCIT:C85187
property_value: exactMatch Orphanet:2655

[Term]
id: MONDO:0017043
name: congenital mesoblastic nephroma
def: "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." [NCIT:C6569]
subset: gard_rare {source="GARD:0001493"}
subset: ordo_disease {source="Orphanet:2665"}
synonym: "CMn" EXACT [NCIT:C6569]
synonym: "congenital mesoblastic nephroma" EXACT [NCIT:C6569]
synonym: "mesoblastic nephroma" EXACT [NCIT:C6569]
synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569]
xref: DOID:4773 {source="MONDO:equivalentTo"}
xref: GARD:0001493 {source="MONDO:equivalentTo"}
xref: ICD10:D41.0 {source="Orphanet:2665", source="ORDO:2665/ntbt"}
xref: ICDO:8960/1 {source="NCIT:C6569"}
xref: MedDRA:10070665 {source="Orphanet:2665", source="ORDO:2665/e"}
xref: NCIT:C6569 {source="DOID:4773", source="MONDO:equivalentTo"}
xref: Orphanet:2665 {source="MONDO:equivalentTo"}
xref: UMLS:C1332965 {source="DOID:4773", source="Orphanet:2665", source="ORDO:2665/e", source="MONDO:equivalentTo", source="NCIT:C6569"}
is_a: MONDO:0003130 {source="DOID:4773"} ! mesoblastic nephroma
is_a: MONDO:0005564 {source="NCIT:C6569"} ! embryonal neoplasm
is_a: MONDO:0036511 ! childhood malignant kidney neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: exactMatch DOID:4773
property_value: exactMatch http://identifiers.org/meddra/10070665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332965
property_value: exactMatch NCIT:C6569
property_value: exactMatch Orphanet:2665
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma xsd:anyURI {source="GARD:0001493"}

[Term]
id: MONDO:0017044
name: adult familial nephronophthisis-spastic quadriparesia syndrome
def: "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." [Orphanet:2666]
subset: ordo_disease {source="Orphanet:2666"}
xref: Orphanet:2666 {source="MONDO:equivalentTo"}
xref: UMLS:CN202376 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019741 {source="Orphanet:2666"} ! familial cystic renal disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202376
property_value: exactMatch Orphanet:2666

[Term]
id: MONDO:0017045
name: neuroectodermal-endocrine syndrome
def: "Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." [Orphanet:2676]
subset: gard_rare {source="GARD:0003959"}
subset: ordo_malformation_syndrome {source="Orphanet:2676"}
synonym: "neuroectodermal endocrine syndrome" RELATED [GARD:0003959]
synonym: "Oerter-Friedman-Anderson syndrome" EXACT [Orphanet:2676]
xref: GARD:0003959 {source="MONDO:equivalentTo"}
xref: ICD10:E31.8 {source="Orphanet:2676", source="ORDO:2676/attributed", source="ORDO:2676/ntbt"}
xref: Orphanet:2676 {source="MONDO:equivalentTo"}
xref: SCTID:724090001 {source="MONDO:equivalentTo"}
xref: UMLS:CN202391 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2676", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015126 {source="Orphanet:2676"} ! polyendocrinopathy
is_a: MONDO:0015159 {source="Orphanet:2676"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/724090001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202391
property_value: exactMatch Orphanet:2676
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome xsd:anyURI {source="GARD:0003959"}

[Term]
id: MONDO:0017046
name: neuroepithelioma
def: "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." [Orphanet:2677]
comment: Editor note: see also MONDO:0005462 and MONDO:0021193
subset: gard_rare {source="GARD:0003963"}
subset: ordo_disease {source="Orphanet:2677"}
xref: GARD:0003963 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="ORDO:2677/ntbt", source="Orphanet:2677"}
xref: Orphanet:2677 {source="MONDO:equivalentTo"}
is_a: MONDO:0016708 {source="Orphanet:2677"} ! embryonal tumor of neuroepithelial tissue
property_value: exactMatch http://identifiers.org/mesh/D018241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027828
property_value: exactMatch Orphanet:2677
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma xsd:anyURI {source="GARD:0003963"}

[Term]
id: MONDO:0017047
name: infantile axonal neuropathy
subset: gard_rare {source="GARD:0002996"}
subset: ordo_disease {source="Orphanet:2679"}
xref: GARD:0002996 {source="MONDO:equivalentTo"}
xref: ICD10:G60.8 {source="ORDO:2679/attributed", source="ORDO:2679/ntbt", source="Orphanet:2679"}
xref: Orphanet:2679 {source="MONDO:equivalentTo"}
is_a: MONDO:0020127 {source="Orphanet:2679"} ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:2679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy xsd:anyURI {source="GARD:0002996"}

[Term]
id: MONDO:0017048
name: pseudomyxoma peritonei
def: "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." [Orphanet:26790]
subset: gard_rare
subset: ordo_disease {source="Orphanet:26790"}
synonym: "Adenomucinosis" EXACT [Orphanet:26790]
synonym: "gelatinous ascites" EXACT [NCIT:C3345, Orphanet:26790]
synonym: "mucinous ascites" EXACT [DOID:3559, NCIT:C3345]
synonym: "Myxoma peritonei" EXACT [NCIT:C3345]
synonym: "peritoneal cavity pseudomyxoma peritonei" EXACT [NCIT:C3345]
synonym: "PMP" EXACT [Orphanet:26790]
synonym: "pseudomyxoma peritonei" EXACT [NCIT:C3345]
synonym: "pseudomyxoma peritonei (morphologic abnormality)" EXACT [DOID:3559]
synonym: "syndrome of pseudomyxoma peritonei" RELATED [GARD:0007488]
synonym: "well differentiated peritoneal mucinous adenocarcinoma" EXACT [NCIT:C3345]
xref: DOID:3559 {source="MONDO:equivalentTo"}
xref: EFO:0007456 {source="MONDO:equivalentTo"}
xref: GARD:0002448 {source="MONDO:equivalentTo"}
xref: GARD:0007488 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C78.6 {source="Orphanet:26790", source="DOID:3559", source="ORDO:26790/ntbt"}
xref: ICDO:8480/6 {source="NCIT:C3345"}
xref: MedDRA:10037138 {source="ORDO:26790/e", source="Orphanet:26790"}
xref: MESH:D011553 {source="ORDO:26790/e", source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="MONDO:ontobio"}
xref: NCIT:C3345 {source="MONDO:equivalentTo", source="DOID:3559", source="exact-label-match"}
xref: Orphanet:26790 {source="MONDO:equivalentTo"}
xref: SCTID:307601000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.37", source="DOID:3559"}
xref: UMLS:C0033822 {source="ORDO:26790/e", source="GARD:0002448", source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="NCIT:C3345"}
is_a: MONDO:0015682 {source="Orphanet:26790"} ! primary peritoneal tumor
is_a: MONDO:0018330 ! mucinous adenocarcinoma of the appendix
property_value: closeMatch http://identifiers.org/snomedct/112679004
property_value: exactMatch DOID:3559
property_value: exactMatch http://identifiers.org/meddra/10037138
property_value: exactMatch http://identifiers.org/mesh/D011553
property_value: exactMatch http://identifiers.org/snomedct/307601000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033822
property_value: exactMatch NCIT:C3345
property_value: exactMatch Orphanet:26790

[Term]
id: MONDO:0017049
name: hypomyelination neuropathy-arthrogryposis syndrome
def: "10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." [Orphanet:2680]
subset: ordo_malformation_syndrome {source="Orphanet:2680"}
synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680]
xref: Orphanet:2680 {source="MONDO:equivalentTo"}
xref: UMLS:CN202399 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015168 {source="Orphanet:2680"} ! arthrogryposis multiplex congenita
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202399
property_value: exactMatch Orphanet:2680

[Term]
id: MONDO:0017050
name: intraocular medulloepithelioma
def: "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." [Orphanet:268139]
subset: ordo_disease {source="Orphanet:268139"}
synonym: "intraocular medulloepithelioma" EXACT [NCIT:C66806]
synonym: "orbital medulloepithelioma" EXACT [Orphanet:268139]
xref: NCIT:C66806 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:268139 {source="MONDO:equivalentTo"}
xref: UMLS:C1883694 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C66806", source="MONDO:equivalentTo"}
xref: UMLS:CN202409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005564 {source="NCIT:C66806"} ! embryonal neoplasm
is_a: MONDO:0021220 {source="Orphanet:268139"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1883694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202409
property_value: exactMatch NCIT:C66806
property_value: exactMatch Orphanet:268139

[Term]
id: MONDO:0017051
name: classic maple syrup urine disease
def: "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." [Orphanet:268145]
subset: ordo_clinical_subtype {source="Orphanet:268145"}
synonym: "classic BCKD deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain ketoaciduria" EXACT [Orphanet:268145]
synonym: "classic MSUD" EXACT [Orphanet:268145]
xref: ICD10:E71.0 {source="MONDO:subClassOf", source="Orphanet:268145", source="ORDO:268145/attributed", source="ORDO:268145/ntbt"}
xref: Orphanet:268145 {source="MONDO:equivalentTo"}
is_a: MONDO:0009563 {source="Orphanet:268145"} ! maple syrup urine disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268568
property_value: exactMatch Orphanet:268145

[Term]
id: MONDO:0017052
name: intermediate maple syrup urine disease
def: "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." [Orphanet:268162]
subset: ordo_clinical_subtype {source="Orphanet:268162"}
synonym: "Intermediate BCKD deficiency" EXACT [Orphanet:268162]
synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162]
synonym: "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162]
synonym: "Intermediate MSUD" EXACT [Orphanet:268162]
xref: ICD10:E71.0 {source="MONDO:subClassOf", source="ORDO:268162/attributed", source="ORDO:268162/ntbt", source="Orphanet:268162"}
xref: Orphanet:268162 {source="MONDO:equivalentTo"}
xref: SCTID:405287008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0009563 {source="Orphanet:268162", source="linkedlifedata"} ! maple syrup urine disease
property_value: exactMatch http://identifiers.org/snomedct/405287008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621920
property_value: exactMatch Orphanet:268162

[Term]
id: MONDO:0017053
name: intermittent maple syrup urine disease
def: "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." [Orphanet:268173]
subset: ordo_clinical_subtype {source="Orphanet:268173"}
synonym: "intermittent BCKD deficiency" EXACT [Orphanet:268173]
synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173]
synonym: "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173]
synonym: "intermittent MSUD" EXACT [Orphanet:268173]
xref: ICD10:E71.0 {source="MONDO:subClassOf", source="ORDO:268173/attributed", source="ORDO:268173/ntbt", source="Orphanet:268173"}
xref: Orphanet:268173 {source="MONDO:equivalentTo"}
xref: SCTID:405288003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
is_a: MONDO:0009563 {source="Orphanet:268173", source="linkedlifedata"} ! maple syrup urine disease
property_value: exactMatch http://identifiers.org/snomedct/405288003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268569
property_value: exactMatch Orphanet:268173

[Term]
id: MONDO:0017054
name: thiamine-responsive maple syrup urine disease
def: "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine." [Orphanet:268184]
subset: ordo_clinical_subtype {source="Orphanet:268184"}
synonym: "thiamine-responsive BCKD deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive MSUD" EXACT [Orphanet:268184]
xref: ICD10:E71.0 {source="MONDO:subClassOf", source="ORDO:268184/attributed", source="ORDO:268184/ntbt", source="Orphanet:268184"}
xref: Orphanet:268184 {source="MONDO:equivalentTo"}
is_a: MONDO:0009563 {source="MONDO:Redundant", source="Orphanet:268184"} ! maple syrup urine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751285
property_value: exactMatch Orphanet:268184

[Term]
id: MONDO:0017055
name: mycophenolate mofetil embryopathy
def: "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." [Orphanet:268249]
subset: ordo_disease {source="Orphanet:268249"}
synonym: "MMF embryopathy" EXACT [Orphanet:268249]
xref: ICD10:Q86.8 {source="Orphanet:268249", source="ORDO:268249/ntbt"}
xref: Orphanet:268249 {source="MONDO:equivalentTo"}
xref: SCTID:723406000 {source="MONDO:equivalentTo"}
xref: UMLS:C4509879 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016677 {source="Orphanet:268249"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/723406000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509879
property_value: exactMatch Orphanet:268249

[Term]
id: MONDO:0017056
name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
subset: ordo_clinical_subtype {source="Orphanet:268261"}
synonym: "21q22.13-q22.2 microdeletion syndrome" EXACT [Orphanet:268261]
synonym: "21q22.13q22.2 microdeletion syndrome" EXACT [Orphanet:268261]
synonym: "Del(21)(q22.13q22.2)" EXACT [Orphanet:268261]
synonym: "monosomy 21q22.13-q22.2" EXACT [Orphanet:268261]
synonym: "monosomy 21q22.13q22.2" EXACT [Orphanet:268261]
xref: ICD10:Q93.5 {source="ORDO:268261/attributed", source="ORDO:268261/ntbt", source="Orphanet:268261"}
xref: Orphanet:268261 {source="MONDO:equivalentTo"}
xref: UMLS:CN202414 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0013578 {source="Orphanet:268261"} ! DYRK1A-related intellectual disability syndrome
is_a: MONDO:0016919 {source="Orphanet:268261"} ! partial deletion of the long arm of chromosome 21
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202414
property_value: exactMatch Orphanet:268261

[Term]
id: MONDO:0017057
name: hereditary thrombocytopenia with normal platelets
subset: ordo_disease {source="Orphanet:268322"}
xref: ICD10:D69.4 {source="Orphanet:268322", source="ORDO:268322/attributed", source="ORDO:268322/ntbt"}
xref: Orphanet:268322 {source="MONDO:equivalentTo"}
xref: UMLS:CN227073 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018796 {source="Orphanet:268322"} ! isolated constitutional thrombocytopenia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227073
property_value: exactMatch Orphanet:268322

[Term]
id: MONDO:0017058
name: autosomal recessive intermediate Charcot-Marie-Tooth disease
def: "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:0012452"}
subset: ordo_group_of_disorders {source="Orphanet:268337"}
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT []
synonym: "intermediate Charcot-Marie-Tooth disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "RI-CMT" EXACT [Orphanet:268337]
xref: GARD:0012452 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:268337", source="ORDO:268337/attributed", source="ORDO:268337/ntbt"}
xref: Orphanet:268337 {source="MONDO:equivalentTo"}
xref: UMLS:CN202416 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018778 {source="MONDO:Redundant", source="MONDOLEX:0017058", source="Orphanet:268337"} ! intermediate Charcot-Marie-Tooth disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202416
property_value: exactMatch Orphanet:268337
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease xsd:anyURI {source="GARD:0012452"}

[Term]
id: MONDO:0017059
name: neural tube closure defect
def: "A disease that has its basis in the disruption of neural tube closure." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:268357"}
synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of neural tube closure" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "neural tube closure disease" EXACT [MONDO:design_pattern]
xref: Orphanet:268357 {source="MONDO:equivalentTo"}
is_a: MONDO:0018075 {source="Orphanet:268357"} ! neural tube defect
property_value: exactMatch Orphanet:268357

[Term]
id: MONDO:0017060
name: open iniencephaly
subset: ordo_clinical_subtype {source="Orphanet:268363"}
xref: ICD10:Q00.2 {source="MONDO:subClassOf", source="ORDO:268363/attributed", source="ORDO:268363/ntbt", source="Orphanet:268363"}
xref: Orphanet:268363 {source="MONDO:equivalentTo"}
xref: SCTID:203928008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0018968 {source="Orphanet:268363", source="linkedlifedata"} ! iniencephaly
property_value: exactMatch http://identifiers.org/snomedct/203928008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431285
property_value: exactMatch Orphanet:268363

[Term]
id: MONDO:0017061
name: closed iniencephaly
subset: ordo_clinical_subtype {source="Orphanet:268366"}
xref: ICD10:Q00.2 {source="MONDO:subClassOf", source="Orphanet:268366", source="ORDO:268366/attributed", source="ORDO:268366/ntbt"}
xref: Orphanet:268366 {source="MONDO:equivalentTo"}
xref: SCTID:203927003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0018968 {source="Orphanet:268366", source="linkedlifedata"} ! iniencephaly
property_value: exactMatch http://identifiers.org/snomedct/203927003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431286
property_value: exactMatch Orphanet:268366

[Term]
id: MONDO:0017062
name: spina bifida aperta
subset: ordo_morphological_anomaly {source="Orphanet:268369"}
xref: ICD10:Q05.0 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.1 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.2 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.3 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.4 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.5 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.6 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.7 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.8 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: ICD10:Q05.9 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"}
xref: Orphanet:268369 {source="MONDO:equivalentTo"}
xref: SCTID:58557008 {source="MONDO:kboom-pr-0.92/0.83/0.15", source="MONDO:equivalentTo"}
xref: UMLS:CN202421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019351 {source="Orphanet:268369"} ! isolated spina bifida
property_value: exactMatch http://identifiers.org/snomedct/58557008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202421
property_value: exactMatch Orphanet:268369

[Term]
id: MONDO:0017063
name: total spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268377"}
xref: Orphanet:268377 {source="MONDO:equivalentTo"}
xref: UMLS:CN202422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268377"} ! spina bifida aperta
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202422
property_value: exactMatch Orphanet:268377

[Term]
id: MONDO:0017064
name: thoracolumbosacral spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268384"}
xref: Orphanet:268384 {source="MONDO:equivalentTo"}
xref: UMLS:CN202423 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268384"} ! spina bifida aperta
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202423
property_value: exactMatch Orphanet:268384

[Term]
id: MONDO:0017065
name: lumbosacral spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268388"}
xref: Orphanet:268388 {source="MONDO:equivalentTo"}
xref: UMLS:CN202424 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268388"} ! spina bifida aperta
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202424
property_value: exactMatch Orphanet:268388

[Term]
id: MONDO:0017066
name: cervical spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268392"}
xref: ICD9:741.91 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:268392 {source="MONDO:equivalentTo"}
xref: SCTID:425687007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.55"}
xref: UMLS:CN202425 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268392", source="linkedlifedata"} ! spina bifida aperta
property_value: exactMatch http://identifiers.org/snomedct/425687007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202425
property_value: exactMatch Orphanet:268392

[Term]
id: MONDO:0017067
name: cervicothoracic spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268397"}
xref: Orphanet:268397 {source="MONDO:equivalentTo"}
xref: UMLS:CN202426 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268397"} ! spina bifida aperta
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202426
property_value: exactMatch Orphanet:268397

[Term]
id: MONDO:0017068
name: upper thoracic spina bifida aperta
subset: ordo_clinical_subtype {source="Orphanet:268740"}
xref: Orphanet:268740 {source="MONDO:equivalentTo"}
xref: UMLS:CN202428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268740"} ! spina bifida aperta
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202428
property_value: exactMatch Orphanet:268740

[Term]
id: MONDO:0017069
name: spina bifida cystica
def: "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." [NCIT:C101201]
subset: ordo_group_of_disorders {source="Orphanet:268744"}
synonym: "meningomyelocele" EXACT [NCIT:C101201]
synonym: "myelomeningocele" EXACT [NCIT:C101201]
synonym: "myelomeningocele" RELATED [NCIT:C101201]
synonym: "open spina bifida" RELATED [MESH:D016137]
synonym: "spina bifida aperta" RELATED [MESH:D016137]
synonym: "spina bifida manifesta" RELATED [MESH:D016137]
synonym: "spina bifida, open" RELATED [MESH:D016137]
xref: ICD10:Q05.0 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.1 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.2 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.3 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.4 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.5 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.6 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.7 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.8 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: ICD10:Q05.9 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"}
xref: MedDRA:10071011 {source="Orphanet:268744", source="ORDO:268744/e"}
xref: MESH:D016137 {source="MONDO:equivalentTo"}
xref: NCIT:C101201 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.17"}
xref: Orphanet:268744 {source="MONDO:equivalentTo"}
is_a: MONDO:0019351 {source="Orphanet:268744"} ! isolated spina bifida
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025312
property_value: exactMatch http://identifiers.org/meddra/10071011
property_value: exactMatch http://identifiers.org/mesh/D016137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037917
property_value: exactMatch NCIT:C101201
property_value: exactMatch Orphanet:268744

[Term]
id: MONDO:0017070
name: total spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268748"}
xref: Orphanet:268748 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268748"} ! myelomeningocele
property_value: exactMatch Orphanet:268748

[Term]
id: MONDO:0017071
name: thoracolumbosacral spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268752"}
xref: Orphanet:268752 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268752"} ! myelomeningocele
property_value: exactMatch Orphanet:268752

[Term]
id: MONDO:0017072
name: lumbosacral spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268758"}
xref: Orphanet:268758 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268758"} ! myelomeningocele
property_value: exactMatch Orphanet:268758

[Term]
id: MONDO:0017073
name: cervical spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268762"}
xref: Orphanet:268762 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268762"} ! myelomeningocele
property_value: exactMatch Orphanet:268762

[Term]
id: MONDO:0017074
name: cervicothoracic spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268766"}
xref: Orphanet:268766 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268766"} ! myelomeningocele
property_value: exactMatch Orphanet:268766

[Term]
id: MONDO:0017075
name: upper thoracic spina bifida cystica
subset: ordo_clinical_subtype {source="Orphanet:268770"}
xref: Orphanet:268770 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268770"} ! myelomeningocele
property_value: exactMatch Orphanet:268770

[Term]
id: MONDO:0017076
name: posterior meningocele
def: "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." [Orphanet:268810]
subset: ordo_morphological_anomaly {source="Orphanet:268810"}
xref: ICD10:Q05.1 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.2 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.3 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.4 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.6 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.7 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.8 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: ICD10:Q05.9 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"}
xref: Orphanet:268810 {source="MONDO:equivalentTo"}
xref: UMLS:CN202439 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202439
property_value: exactMatch Orphanet:268810

[Term]
id: MONDO:0017077
name: myelocystocele
subset: ordo_morphological_anomaly {source="Orphanet:268813"}
xref: ICD10:Q05.0 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.1 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.2 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.3 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.4 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.5 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.6 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.7 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.8 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: ICD10:Q05.9 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"}
xref: Orphanet:268813 {source="MONDO:equivalentTo"}
xref: SCTID:203994003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0017069 {source="Orphanet:268813"} ! spina bifida cystica
property_value: exactMatch http://identifiers.org/snomedct/203994003
property_value: exactMatch Orphanet:268813

[Term]
id: MONDO:0017078
name: cephalocele (disease)
def: "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." [NCIT:C84687]
subset: ordo_group_of_disorders {source="Orphanet:268817"}
synonym: "cephalocele" EXACT [MONDO:ambiguous]
synonym: "cranium bifidum" EXACT [NCIT:C84687]
synonym: "encephalocele" EXACT [NCIT:C84687]
synonym: "encephalocele" RELATED [NCIT:C84687]
xref: HP:0011815 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q01.0 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="MONDO:superClassOf", source="Orphanet:268817"}
xref: ICD10:Q01.1 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"}
xref: ICD10:Q01.2 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="MONDO:superClassOf", source="Orphanet:268817"}
xref: ICD10:Q01.8 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"}
xref: ICD10:Q01.9 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"}
xref: ICD9:742.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C84687 {source="MONDO:equivalentTo"}
xref: Orphanet:268817 {source="MONDO:equivalentTo"}
xref: SCTID:55999004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.75"}
is_a: MONDO:0017059 {source="Orphanet:268817"} ! neural tube closure defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014065
property_value: exactMatch http://identifiers.org/snomedct/55999004
property_value: exactMatch NCIT:C84687
property_value: exactMatch Orphanet:268817

[Term]
id: MONDO:0017079
name: meningoencephalocele
def: "A congenital abnormality in which the meninges protrude through a defect in the cranium." [NCIT:C124517]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:268820"}
synonym: "brain meninx cephalocele (disease)" EXACT [MONDO:patterns/location]
synonym: "cephalocele (disease) of brain meninx" EXACT []
synonym: "cranial meningocele" RELATED [Orphanet:268820]
synonym: "encephalomeningocele" RELATED [GARD:0003473]
synonym: "meningoencephalocele" EXACT []
xref: GARD:0003473 {source="MONDO:equivalentTo"}
xref: ICD10:Q01.0 {source="MONDO:relatedTo", source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"}
xref: ICD10:Q01.1 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"}
xref: ICD10:Q01.2 {source="MONDO:relatedTo", source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"}
xref: ICD10:Q01.8 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"}
xref: ICD10:Q01.9 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"}
xref: NCIT:C124517 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:268820 {source="MONDO:equivalentTo"}
xref: SCTID:52330001 {source="MONDO:equivalentTo"}
xref: UMLS:C0009694 {source="NCIT:C124517", source="ORDO:268820/e", source="Orphanet:268820", source="MONDO:equivalentTo"}
is_a: MONDO:0001147 {source="NCIT:C124517"} ! meningocele (disease)
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0017078 {source="MONDO:Redundant", source="Orphanet:268820", source="linkedlifedata"} ! cephalocele (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266456
property_value: exactMatch http://identifiers.org/snomedct/52330001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009694
property_value: exactMatch NCIT:C124517
property_value: exactMatch Orphanet:268820

[Term]
id: MONDO:0017080
name: occipital encephalocele
subset: ordo_clinical_subtype {source="Orphanet:268823"}
xref: ICD10:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="ORDO:268823/e", source="ORDO:268823/specific"}
xref: Orphanet:268823 {source="MONDO:equivalentTo"}
xref: SCTID:42376006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016057 {source="MONDOLEX:0017080", source="Orphanet:268823"} ! isolated encephalocele
property_value: exactMatch http://identifiers.org/snomedct/42376006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014067
property_value: exactMatch Orphanet:268823

[Term]
id: MONDO:0017081
name: parietal encephalocele
subset: ordo_clinical_subtype {source="Orphanet:268826"}
xref: ICD10:Q01.8 {source="ORDO:268826/attributed", source="ORDO:268826/ntbt", source="Orphanet:268826"}
xref: Orphanet:268826 {source="MONDO:equivalentTo"}
xref: SCTID:253109005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016057 {source="MONDOLEX:0017081", source="Orphanet:268826"} ! isolated encephalocele
property_value: exactMatch http://identifiers.org/snomedct/253109005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431294
property_value: exactMatch Orphanet:268826

[Term]
id: MONDO:0017082
name: basal encephalocele
subset: ordo_clinical_subtype {source="Orphanet:268829"}
xref: ICD10:Q01.8 {source="Orphanet:268829", source="ORDO:268829/attributed", source="ORDO:268829/ntbt"}
xref: Orphanet:268829 {source="MONDO:equivalentTo"}
xref: UMLS:C4023176 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016057 {source="MONDOLEX:0017082", source="Orphanet:268829"} ! isolated encephalocele
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4023176
property_value: exactMatch Orphanet:268829

[Term]
id: MONDO:0017083
name: lipoma associated with neurospinal dysraphism
subset: ordo_group_of_disorders {source="Orphanet:268832"}
xref: Orphanet:268832 {source="MONDO:equivalentTo"}
is_a: MONDO:0017059 {source="Orphanet:268832"} ! neural tube closure defect
property_value: exactMatch Orphanet:268832

[Term]
id: MONDO:0017084
name: leptomyelolipoma
def: "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." [Orphanet:268838]
subset: ordo_morphological_anomaly {source="Orphanet:268838"}
xref: Orphanet:268838 {source="MONDO:equivalentTo"}
is_a: MONDO:0017083 {source="Orphanet:268838"} ! lipoma associated with neurospinal dysraphism
property_value: exactMatch Orphanet:268838

[Term]
id: MONDO:0017085
name: malformation of the neurenteric canal, spinal cord and column
subset: ordo_group_of_disorders {source="Orphanet:268843"}
xref: Orphanet:268843 {source="MONDO:equivalentTo"}
is_a: MONDO:0018075 {source="Orphanet:268843"} ! neural tube defect
property_value: exactMatch Orphanet:268843

[Term]
id: MONDO:0017086
name: primary tethered cord syndrome
def: "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." [Orphanet:268861]
subset: ordo_morphological_anomaly {source="Orphanet:268861"}
synonym: "occult spinal dysraphism" RELATED [GARD:0004018]
synonym: "occult spinal dysraphism sequence" RELATED [GARD:0004018]
synonym: "primary tethered spinal cord syndrome" EXACT [Orphanet:268861]
synonym: "segmental vertebral anomalies" RELATED [GARD:0004018]
synonym: "tethered cord syndrome" RELATED [GARD:0004018]
xref: GARD:0004018 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:268861 {source="MONDO:equivalentTo"}
xref: SCTID:70534000 {source="MONDO:equivalentTo"}
xref: UMLS:CN202446 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017085 {source="Orphanet:268861"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch http://identifiers.org/snomedct/70534000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202446
property_value: exactMatch Orphanet:268861

[Term]
id: MONDO:0017087
name: neurenteric cyst
subset: ordo_morphological_anomaly {source="Orphanet:268865"}
xref: Orphanet:268865 {source="MONDO:equivalentTo"}
is_a: MONDO:0017085 {source="Orphanet:268865"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027806
property_value: exactMatch Orphanet:268865

[Term]
id: MONDO:0017088
name: isolated amyelia
subset: ordo_morphological_anomaly {source="Orphanet:268868"}
xref: ICD10:Q06.0 {source="ORDO:268868/e", source="Orphanet:268868", source="ORDO:268868/specific"}
xref: Orphanet:268868 {source="MONDO:equivalentTo"}
is_a: MONDO:0017085 {source="Orphanet:268868"} ! malformation of the neurenteric canal, spinal cord and column
property_value: exactMatch Orphanet:268868

[Term]
id: MONDO:0017089
name: isolated megalencephaly
def: "A megalencephaly (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_clinical_subtype {source="Orphanet:268920"}
synonym: "isolated macrencephaly" EXACT [Orphanet:268920]
synonym: "isolated megalencephaly (disease)" EXACT []
synonym: "nonsyndromic megalencephaly (disease)" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q04.5 {source="Orphanet:268920", source="ORDO:268920/attributed", source="ORDO:268920/ntbt"}
xref: Orphanet:268920 {source="MONDO:equivalentTo"}
is_a: MONDO:0015219 ! non-syndromic central nervous system malformation
is_a: MONDO:0016608 {source="MONDO:Redundant", source="Orphanet:268920"} ! megalencephaly (disease)
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:268920", source="Orphanet:268920/inferred"} ! genetic nervous system disorder
intersection_of: MONDO:0016608 ! megalencephaly (disease)
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:268920

[Term]
id: MONDO:0017090
name: midline cerebral malformation
subset: ordo_group_of_disorders {source="Orphanet:268926"}
synonym: "Midline brain malformation" EXACT [Orphanet:268926]
xref: ICD10:Q04.8 {source="ORDO:268926/attributed", source="ORDO:268926/ntbt", source="Orphanet:268926"}
xref: Orphanet:268926 {source="MONDO:equivalentTo"}
is_a: MONDO:0016054 {source="Orphanet:268926"} ! cerebral malformation
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:268926", source="Orphanet:268926/inferred"} ! genetic nervous system disorder
property_value: exactMatch Orphanet:268926

[Term]
id: MONDO:0017091
name: bilateral polymicrogyria
def: "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." [Orphanet:268940]
subset: ordo_morphological_anomaly {source="Orphanet:268940"}
xref: ICD10:Q04.3 {source="Orphanet:268940", source="ORDO:268940/attributed", source="ORDO:268940/ntbt"}
xref: Orphanet:268940 {source="MONDO:equivalentTo"}
xref: SCTID:765757003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000087 {source="Orphanet:268940"} ! polymicrogyria
property_value: exactMatch http://identifiers.org/snomedct/765757003
property_value: exactMatch Orphanet:268940

[Term]
id: MONDO:0017092
name: unilateral polymicrogyria
def: "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms)." [Orphanet:268943]
subset: ordo_morphological_anomaly {source="Orphanet:268943"}
xref: ICD10:Q04.3 {source="ORDO:268943/attributed", source="ORDO:268943/ntbt", source="Orphanet:268943"}
xref: Orphanet:268943 {source="MONDO:equivalentTo"}
xref: SCTID:715905006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4024960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000087 {source="Orphanet:268943", source="linkedlifedata"} ! polymicrogyria
property_value: exactMatch http://identifiers.org/snomedct/715905006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4024960
property_value: exactMatch Orphanet:268943

[Term]
id: MONDO:0017093
name: unilateral focal polymicrogyria
def: "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." [Orphanet:268947]
subset: ordo_clinical_subtype {source="Orphanet:268947"}
xref: ICD10:Q04.3 {source="ORDO:268947/attributed", source="ORDO:268947/ntbt", source="Orphanet:268947"}
xref: Orphanet:268947 {source="MONDO:equivalentTo"}
is_a: MONDO:0017092 {source="Orphanet:268947"} ! unilateral polymicrogyria
property_value: exactMatch Orphanet:268947

[Term]
id: MONDO:0017094
name: cerebral cortical dysplasia
def: "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." [MESH:D054220]
subset: ordo_group_of_disorders {source="Orphanet:268950"}
synonym: "brain cortical dysplasia" EXACT [Orphanet:268950]
synonym: "cortical dysplasia" EXACT [NCIT:C42088]
xref: ICD10:Q04.8 {source="Orphanet:268950", source="ORDO:268950/attributed", source="ORDO:268950/ntbt"}
xref: MESH:D054220 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C42088 {source="MONDO:equivalentTo"}
xref: Orphanet:268950 {source="MONDO:equivalentTo"}
xref: SCTID:253153000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015572 {source="Orphanet:268950"} ! cerebral malformation due to abnormal neuronal migration
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431380
property_value: exactMatch http://identifiers.org/mesh/D054220
property_value: exactMatch http://identifiers.org/snomedct/253153000
property_value: exactMatch NCIT:C42088
property_value: exactMatch Orphanet:268950

[Term]
id: MONDO:0017095
name: isolated focal cortical dysplasia type I
subset: ordo_clinical_subtype {source="Orphanet:268961"}
synonym: "FCD type I" EXACT [Orphanet:268961]
xref: ICD10:Q04.8 {source="Orphanet:268961", source="ORDO:268961/attributed", source="ORDO:268961/ntbt"}
xref: Orphanet:268961 {source="MONDO:equivalentTo"}
xref: UMLS:CN202452 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019009 {source="Orphanet:268961"} ! isolated focal cortical dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202452
property_value: exactMatch Orphanet:268961

[Term]
id: MONDO:0017096
name: isolated focal cortical dysplasia type Ia
subset: ordo_histopathological_subtype {source="Orphanet:268973"}
synonym: "FCD type Ia" EXACT [Orphanet:268973]
xref: ICD10:Q04.8 {source="Orphanet:268973", source="ORDO:268973/attributed", source="ORDO:268973/ntbt"}
xref: Orphanet:268973 {source="MONDO:equivalentTo"}
xref: UMLS:CN202453 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017095 {source="MONDOLEX:0017096", source="Orphanet:268973"} ! isolated focal cortical dysplasia type I
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202453
property_value: exactMatch Orphanet:268973

[Term]
id: MONDO:0017097
name: isolated focal cortical dysplasia type Ib
subset: ordo_histopathological_subtype {source="Orphanet:268980"}
synonym: "FCD type IB" EXACT [Orphanet:268980]
xref: ICD10:Q04.8 {source="ORDO:268980/attributed", source="ORDO:268980/ntbt", source="Orphanet:268980"}
xref: Orphanet:268980 {source="MONDO:equivalentTo"}
xref: UMLS:CN202454 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017095 {source="MONDOLEX:0017097", source="Orphanet:268980"} ! isolated focal cortical dysplasia type I
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202454
property_value: exactMatch Orphanet:268980

[Term]
id: MONDO:0017098
name: isolated focal cortical dysplasia type Ic
subset: ordo_histopathological_subtype {source="Orphanet:268987"}
synonym: "FCD type Ic" EXACT [Orphanet:268987]
xref: ICD10:Q04.8 {source="ORDO:268987/attributed", source="ORDO:268987/ntbt", source="Orphanet:268987"}
xref: Orphanet:268987 {source="MONDO:equivalentTo"}
xref: UMLS:CN202455 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017095 {source="MONDOLEX:0017098", source="Orphanet:268987"} ! isolated focal cortical dysplasia type I
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202455
property_value: exactMatch Orphanet:268987

[Term]
id: MONDO:0017099
name: obsolete facioscapulohumeral dystrophy
is_obsolete: true
replaced_by: MONDO:0001347

[Term]
id: MONDO:0017100
name: neutropenia-monocytopenia-deafness syndrome
def: "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." [Orphanet:2690]
subset: ordo_disease {source="Orphanet:2690"}
xref: ICD10:D82.8 {source="Orphanet:2690", source="ORDO:2690/attributed", source="ORDO:2690/ntbt"}
xref: Orphanet:2690 {source="MONDO:equivalentTo"}
xref: UMLS:CN202458 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018032 {source="Orphanet:2690"} ! constitutional neutropenia with extra-hematopoietic manifestations
is_a: MONDO:0019589 {source="Orphanet:2690"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202458
property_value: exactMatch Orphanet:2690

[Term]
id: MONDO:0017101
name: isolated focal cortical dysplasia type IIa
subset: ordo_histopathological_subtype {source="Orphanet:269001"}
synonym: "FCD type IIa" EXACT [Orphanet:269001]
xref: ICD10:Q04.8 {source="ORDO:269001/attributed", source="ORDO:269001/ntbt", source="Orphanet:269001"}
xref: Orphanet:269001 {source="MONDO:equivalentTo"}
is_a: MONDO:0011818 {source="MONDOLEX:0017101", source="Orphanet:269001"} ! isolated focal cortical dysplasia type II
property_value: exactMatch Orphanet:269001

[Term]
id: MONDO:0017102
name: isolated focal cortical dysplasia type IIb
subset: ordo_histopathological_subtype {source="Orphanet:269008"}
synonym: "FCD type IIb" EXACT [Orphanet:269008]
xref: ICD10:Q04.8 {source="Orphanet:269008", source="ORDO:269008/attributed", source="ORDO:269008/ntbt"}
xref: Orphanet:269008 {source="MONDO:equivalentTo"}
xref: UMLS:CN202460 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011818 {source="MONDOLEX:0017102", source="Orphanet:269008"} ! isolated focal cortical dysplasia type II
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202460
property_value: exactMatch Orphanet:269008

[Term]
id: MONDO:0017103
name: encephaloclastic disorder
subset: ordo_group_of_disorders {source="Orphanet:269190"}
xref: Orphanet:269190 {source="MONDO:equivalentTo"}
xref: UMLS:CN227080 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016054 {source="Orphanet:269190"} ! cerebral malformation
relationship: excluded_subClassOf MONDO:0015960 {source="MONDO:Redundant", source="Orphanet:269190", source="Orphanet:269190/inferred"} ! obsolete rare genetic developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:269190", source="Orphanet:269190/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227080
property_value: exactMatch Orphanet:269190

[Term]
id: MONDO:0017104
name: central nervous system cystic malformation
subset: ordo_group_of_disorders {source="Orphanet:269194"}
xref: Orphanet:269194 {source="MONDO:equivalentTo"}
is_a: MONDO:0015219 {source="Orphanet:269194"} ! non-syndromic central nervous system malformation
property_value: exactMatch Orphanet:269194

[Term]
id: MONDO:0017105
name: glioependymal/ependymal cyst
def: "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." [Orphanet:269197]
subset: ordo_morphological_anomaly {source="Orphanet:269197"}
xref: Orphanet:269197 {source="MONDO:equivalentTo"}
is_a: MONDO:0017104 {source="Orphanet:269197"} ! central nervous system cystic malformation
property_value: exactMatch Orphanet:269197

[Term]
id: MONDO:0017106
name: retrocerebellar cyst (disease)
subset: ordo_morphological_anomaly {source="Orphanet:269200"}
synonym: "Retrocerebellar arachnoid cyst" EXACT [Orphanet:269200]
synonym: "Retrocerebellar cyst" EXACT [MONDO:ambiguous]
xref: HP:0006951 {source="MONDO:otherHierarchy", source="ontobio"}
xref: Orphanet:269200 {source="MONDO:equivalentTo"}
is_a: MONDO:0020134 {source="Orphanet:269200"} ! cystic malformation of the posterior fossa
property_value: exactMatch Orphanet:269200

[Term]
id: MONDO:0017107
name: isolated cerebellar vermis agenesis
subset: ordo_morphological_anomaly {source="Orphanet:269203"}
xref: ICD10:Q04.3 {source="Orphanet:269203", source="ORDO:269203/ntbt"}
xref: Orphanet:269203 {source="MONDO:equivalentTo"}
is_a: MONDO:0020130 {source="Orphanet:269203"} ! malformation of the cerebellar vermis
property_value: exactMatch Orphanet:269203

[Term]
id: MONDO:0017108
name: isolated total cerebellar vermis agenesis
subset: ordo_clinical_subtype {source="Orphanet:269206"}
xref: ICD10:Q04.3 {source="Orphanet:269206", source="ORDO:269206/ntbt"}
xref: Orphanet:269206 {source="MONDO:equivalentTo"}
is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agenesis
property_value: exactMatch Orphanet:269206

[Term]
id: MONDO:0017109
name: isolated partial cerebellar vermis agenesis
subset: ordo_clinical_subtype {source="Orphanet:269209"}
xref: ICD10:Q04.3 {source="ORDO:269209/ntbt", source="Orphanet:269209"}
xref: Orphanet:269209 {source="MONDO:equivalentTo"}
is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agenesis
property_value: exactMatch Orphanet:269209

[Term]
id: MONDO:0017110
name: isolated Dandy-Walker malformation with hydrocephalus
subset: ordo_clinical_subtype {source="Orphanet:269212"}
xref: ICD10:Q03.1 {source="Orphanet:269212", source="ORDO:269212/attributed", source="ORDO:269212/ntbt"}
xref: Orphanet:269212 {source="MONDO:equivalentTo"}
is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome
property_value: exactMatch Orphanet:269212

[Term]
id: MONDO:0017111
name: isolated Dandy-Walker malformation without hydrocephalus
subset: ordo_clinical_subtype {source="Orphanet:269215"}
xref: ICD10:Q03.1 {source="Orphanet:269215", source="ORDO:269215/attributed", source="ORDO:269215/ntbt"}
xref: Orphanet:269215 {source="MONDO:equivalentTo"}
is_a: MONDO:0009072 {source="Orphanet:269215"} ! Dandy-Walker syndrome
property_value: exactMatch Orphanet:269215

[Term]
id: MONDO:0017112
name: isolated unilateral hemispheric cerebellar hypoplasia
def: "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." [Orphanet:269218]
subset: ordo_morphological_anomaly {source="Orphanet:269218"}
xref: ICD10:Q04.3 {source="ORDO:269218/ntbt", source="Orphanet:269218"}
xref: Orphanet:269218 {source="MONDO:equivalentTo"}
xref: SCTID:766934006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020131 {source="Orphanet:269218"} ! malformation of the cerebellar hemispheres
property_value: exactMatch http://identifiers.org/snomedct/766934006
property_value: exactMatch Orphanet:269218

[Term]
id: MONDO:0017113
name: isolated bilateral hemispheric cerebellar hypoplasia
def: "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." [Orphanet:269221]
subset: ordo_morphological_anomaly {source="Orphanet:269221"}
xref: ICD10:Q04.3 {source="ORDO:269221/ntbt", source="Orphanet:269221"}
xref: Orphanet:269221 {source="MONDO:equivalentTo"}
is_a: MONDO:0020131 {source="Orphanet:269221"} ! malformation of the cerebellar hemispheres
property_value: exactMatch Orphanet:269221

[Term]
id: MONDO:0017114
name: global cerebellar malformation
subset: ordo_group_of_disorders {source="Orphanet:269224"}
synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224]
xref: ICD10:Q04.3 {source="Orphanet:269224", source="ORDO:269224/ntbt"}
xref: Orphanet:269224 {source="MONDO:equivalentTo"}
is_a: MONDO:0015915 {source="Orphanet:269224"} ! cerebellar malformation
property_value: exactMatch Orphanet:269224

[Term]
id: MONDO:0017115
name: obsolete bifid nose
is_obsolete: true
replaced_by: MONDO:0000110

[Term]
id: MONDO:0017116
name: congenital communicating hydrocephalus
subset: ordo_clinical_subtype {source="Orphanet:269505"}
synonym: "congenital non-obstructive hydrocephalus" EXACT [Orphanet:269505]
xref: ICD10:Q03.8 {source="ORDO:269505/attributed", source="ORDO:269505/ntbt", source="Orphanet:269505"}
xref: Orphanet:269505 {source="MONDO:equivalentTo"}
is_a: MONDO:0016349 {source="Orphanet:269505"} ! congenital hydrocephalus
property_value: exactMatch Orphanet:269505

[Term]
id: MONDO:0017117
name: congenital non-communicating hydrocephalus
subset: ordo_clinical_subtype {source="Orphanet:269510"}
synonym: "congenital obstructive hydrocephalus" EXACT [Orphanet:269510]
xref: ICD10:Q03.1 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"}
xref: ICD10:Q03.2 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"}
xref: ICD10:Q03.8 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"}
xref: Orphanet:269510 {source="MONDO:equivalentTo"}
xref: SCTID:762295002 {source="MONDO:equivalentTo"}
is_a: MONDO:0016349 {source="Orphanet:269510"} ! congenital hydrocephalus
property_value: exactMatch http://identifiers.org/snomedct/762295002
property_value: exactMatch Orphanet:269510

[Term]
id: MONDO:0017118
name: syndrome with a cerebellar malformation as major feature
subset: ordo_group_of_disorders {source="Orphanet:269523"}
xref: Orphanet:269523 {source="MONDO:equivalentTo"}
xref: UMLS:CN202468 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015220 {source="Orphanet:269523"} ! syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202468
property_value: exactMatch Orphanet:269523

[Term]
id: MONDO:0017119
name: syndrome with microcephaly as major feature
subset: ordo_group_of_disorders {source="Orphanet:269528"}
xref: Orphanet:269528 {source="MONDO:equivalentTo"}
xref: UMLS:CN202469 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015220 {source="Orphanet:269528"} ! syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:269528", source="Orphanet:269528/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202469
property_value: exactMatch Orphanet:269528

[Term]
id: MONDO:0017120
name: other syndrome with a central nervous system malformation as major feature
comment: Editor note: consider deleting all 'other' terms
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:269531"}
xref: Orphanet:269531 {source="MONDO:equivalentTo"}
xref: UMLS:CN202470 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015220 {source="MONDOLEX:0017120", source="Orphanet:269531"} ! syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202470
property_value: exactMatch Orphanet:269531

[Term]
id: MONDO:0017121
name: syndrome with a Dandy-Walker malformation as major feature
subset: ordo_group_of_disorders {source="Orphanet:269546"}
xref: Orphanet:269546 {source="MONDO:equivalentTo"}
xref: UMLS:CN202471 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017118 {source="MONDO:Redundant", source="Orphanet:269546"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202471
property_value: exactMatch Orphanet:269546

[Term]
id: MONDO:0017122
name: genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:269573"}
xref: Orphanet:269573 {source="MONDO:equivalentTo"}
xref: UMLS:CN202475 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016055 ! syndrome with corpus callosum agenesis /dysgenesis as a major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:269573", source="Orphanet:269573/inferred"} ! genetic nervous system disorder
intersection_of: MONDO:0016055 ! syndrome with corpus callosum agenesis /dysgenesis as a major feature
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202475
property_value: exactMatch Orphanet:269573
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017123
name: arthrogryposis-renal dysfunction-cholestasis syndrome
def: "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." [Orphanet:2697]
subset: ordo_malformation_syndrome {source="Orphanet:2697"}
synonym: "ARC syndrome" EXACT [MONDO:0000444, Orphanet:2697]
synonym: "arthrogryposis - renal dysfunction - cholestasis" RELATED [GARD:0000794]
synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" RELATED [GARD:0000794]
synonym: "arthrogryposis renal dysfunction cholestasis syndrome" RELATED [GARD:0000794]
synonym: "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [DOID:0050763]
synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:0050763]
synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [DOID:0050763]
xref: DOID:0050763 {source="MONDO:equivalentTo"}
xref: GARD:0000794 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q89.7 {source="Orphanet:2697", source="ORDO:2697/attributed", source="ORDO:2697/ntbt"}
xref: MESH:C535382 {source="ORDO:2697/e", source="Orphanet:2697", source="MONDO:equivalentTo"}
xref: OMIMPS:208085 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2697 {source="MONDO:equivalentTo"}
xref: SCTID:720513002 {source="MONDO:equivalentTo"}
is_a: MONDO:0008823 {source="linkedlifedata"} ! neurogenic arthrogryposis multiplex congenita
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017273 {source="Orphanet:2697"} ! autosomal ichthyosis syndrome with fatal disease course
is_a: MONDO:0017755 {source="Orphanet:2697"} ! inborn disorder of bilirubin metabolism
is_a: MONDO:0019721 {source="Orphanet:2697"} ! syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0050763
property_value: exactMatch http://identifiers.org/mesh/C535382
property_value: exactMatch http://identifiers.org/snomedct/720513002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859722
property_value: exactMatch Orphanet:2697

[Term]
id: MONDO:0017124
name: noma
def: "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." [Orphanet:2700]
subset: gard_rare {source="GARD:0004001"}
subset: ordo_disease {source="Orphanet:2700"}
synonym: "cancrum oris" EXACT [DOID:9672, ICD9CM_2006:528.1, Orphanet:2700]
synonym: "gangrenous stomatitis" EXACT [DOID:9672, MTHICD9_2006:528.1]
synonym: "noma neonatorum" RELATED [GARD:0004001]
synonym: "oral gangrene" RELATED [GARD:0004001]
synonym: "oro-facial gangrene" RELATED [GARD:0004001]
synonym: "oro-facial noma" RELATED [GARD:0004001]
xref: COHD:141055 {source="MONDO:equivalentTo"}
xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"}
xref: EFO:1001063 {source="MONDO:equivalentTo"}
xref: GARD:0004001 {source="MONDO:equivalentTo"}
xref: ICD10:A69.0 {source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672"}
xref: ICD9:528.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9672"}
xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="ORDO:2700/e"}
xref: MESH:D009625 {source="EFO:1001063", source="MONDO:equivalentTo", source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672", source="MONDO:ontobio"}
xref: NCIT:C34852 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9672"}
xref: Orphanet:2700 {source="MONDO:equivalentTo"}
xref: SCTID:18116006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9672"}
xref: UMLS:C0028271 {source="MONDO:equivalentTo", source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672", source="NCIT:C34852"}
is_a: MONDO:0004848 {source="DOID:9672", source="NCIT:C34852"} ! ulcerative stomatitis
is_a: MONDO:0005113 {source="Orphanet:2700"} ! bacterial infectious disease
is_a: MONDO:0005318 {source="EFO:1001063"} ! canker sore
is_a: MONDO:0043424 ! digestive system infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/196528007
property_value: closeMatch http://identifiers.org/snomedct/266427007
property_value: closeMatch http://identifiers.org/snomedct/399050001
property_value: exactMatch DOID:9672
property_value: exactMatch http://identifiers.org/meddra/10029502
property_value: exactMatch http://identifiers.org/mesh/D009625
property_value: exactMatch http://identifiers.org/snomedct/18116006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028271
property_value: exactMatch NCIT:C34852
property_value: exactMatch Orphanet:2700
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4001/noma xsd:anyURI {source="GARD:0004001"}

[Term]
id: MONDO:0017125
name: oculofaciocardiodental syndrome
def: "Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease." [Orphanet:2712]
subset: ordo_malformation_syndrome {source="Orphanet:2712"}
synonym: "ANOP2 (formerly)" RELATED [GARD:0004628]
synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [Orphanet:2712]
synonym: "MAA2 (formerly)" RELATED [GARD:0004628]
synonym: "microphthalmia cataracts radiculomegaly and septal heart defects" RELATED [GARD:0004628]
synonym: "microphthalmia syndromic 2" RELATED [GARD:0004628]
synonym: "OFCD syndrome" EXACT [Orphanet:2712]
synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628]
xref: GARD:0004628 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2712/attributed", source="ORDO:2712/ntbt", source="Orphanet:2712"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:2712 {source="MONDO:equivalentTo"}
xref: SCTID:699300009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.90"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2712"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015336 {source="Orphanet:2712"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0016073 {source="MONDOLEX:0017125", source="Orphanet:2712"} ! syndromic microphthalmia
is_a: MONDO:0020119 {source="Orphanet:2712"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020222 {source="Orphanet:2712"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537465
property_value: exactMatch http://identifiers.org/mesh/C537735
property_value: exactMatch http://identifiers.org/snomedct/699300009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931601
property_value: exactMatch Orphanet:2712

[Term]
id: MONDO:0017126
name: oculo-skeletal-renal syndrome
subset: gard_rare {source="GARD:0004028"}
subset: ordo_malformation_syndrome {source="Orphanet:2716"}
synonym: "oculo skeletal renal syndrome" RELATED [GARD:0004028]
xref: GARD:0004028 {source="MONDO:equivalentTo"}
xref: Orphanet:2716 {source="MONDO:equivalentTo"}
xref: UMLS:CN202523 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019721 {source="Orphanet:2716"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202523
property_value: exactMatch Orphanet:2716
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome xsd:anyURI {source="GARD:0004028"}

[Term]
id: MONDO:0017127
name: inherited soft tissue tumor
def: "An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:271832"}
synonym: "genetic mesenchymal cell neoplasm" EXACT [MONDO:patterns/genetic]
synonym: "genetic mesenchymal tumor" EXACT [Orphanet:271832]
synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832]
synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:271832 {source="MONDO:equivalentTo"}
xref: UMLS:CN202526 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="MONDOLEX:0017127", source="Orphanet:271832"} ! mesenchymal cell neoplasm
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0002616 ! mesenchymal cell neoplasm
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202526
property_value: exactMatch Orphanet:271832

[Term]
id: MONDO:0017128
name: inherited digestive tract tumor
subset: ordo_group_of_disorders {source="Orphanet:271835"}
synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835]
xref: Orphanet:271835 {source="MONDO:equivalentTo"}
xref: UMLS:CN202527 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0021223 ! digestive system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202527
property_value: exactMatch Orphanet:271835

[Term]
id: MONDO:0017129
name: inherited cardiac tumor
def: "An instance of heart cancer that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:271841"}
synonym: "genetic cardiac tumor" RELATED [Orphanet:271841]
synonym: "genetic heart tumor" EXACT [Orphanet:271841]
synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:271841 {source="MONDO:equivalentTo"}
xref: UMLS:CN202528 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0021209 ! heart neoplasm
intersection_of: MONDO:0021209 ! heart neoplasm
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202528
property_value: exactMatch Orphanet:271841

[Term]
id: MONDO:0017130
name: obsolete genetic urogenital tumor
subset: ordo_group_of_disorders {source="Orphanet:271844"}
xref: Orphanet:271844 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:271844
is_obsolete: true

[Term]
id: MONDO:0017131
name: genetic cardiac anomaly
subset: ordo_group_of_disorders {source="Orphanet:271853"}
xref: Orphanet:271853 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 {source="Orphanet:271853"} ! disorder of development or morphogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch Orphanet:271853

[Term]
id: MONDO:0017132
name: hereditary ATTR amyloidosis
subset: ordo_group_of_disorders {source="Orphanet:271861"}
synonym: "familial transthyretin-related amyloidosis" EXACT [Orphanet:271861]
synonym: "familial TTR-related amyloidosis" EXACT [Orphanet:271861]
xref: Orphanet:271861 {source="MONDO:equivalentTo"}
xref: UMLS:CN227096 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018634 {source="Orphanet:271861"} ! hereditary amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227096
property_value: exactMatch Orphanet:271861

[Term]
id: MONDO:0017133
name: genetic systemic or rheumatologic disease
def: "An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:271870"}
synonym: "hereditary systemic or rheumatic disease" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:271870 {source="MONDO:equivalentTo"}
xref: UMLS:CN202531 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0020012 ! systemic or rheumatic disease
intersection_of: MONDO:0020012 ! systemic or rheumatic disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202531
property_value: exactMatch Orphanet:271870

[Term]
id: MONDO:0017134
name: odonto-onycho dysplasia-alopecia syndrome
def: "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." [Orphanet:2722]
subset: ordo_malformation_syndrome {source="Orphanet:2722"}
synonym: "odonto onycho dysplasia with alopecia" RELATED [GARD:0004051]
xref: GARD:0004051 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:2722 {source="MONDO:equivalentTo"}
xref: UMLS:CN202534 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:2722"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:2722"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202534
property_value: exactMatch Orphanet:2722

[Term]
id: MONDO:0017135
name: olivopontocerebellar atrophy-deafness syndrome
def: "Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." [Orphanet:2732]
subset: ordo_malformation_syndrome {source="Orphanet:2732"}
synonym: "olivopontocerebellar atrophy deafness" RELATED [GARD:0004070]
xref: GARD:0004070 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:2732 {source="MONDO:equivalentTo"}
xref: UMLS:CN202542 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:2732"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202542
property_value: exactMatch Orphanet:2732

[Term]
id: MONDO:0017136
name: omodysplasia
def: "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." [Orphanet:2733]
subset: ordo_malformation_syndrome {source="Orphanet:2733"}
xref: DOID:0060288 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:2733/attributed", source="ORDO:2733/ntbt", source="Orphanet:2733"}
xref: OMIMPS:258315 {source="MONDO:equivalentTo"}
xref: Orphanet:2733 {source="DOID:0060288", source="MONDO:equivalentTo"}
xref: SCTID:725164008 {source="MONDO:equivalentTo"}
xref: UMLS:C4510897 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0019697 {source="Orphanet:2733"} ! mesomelic and rhizo-mesomelic dysplasia
relationship: excluded_subClassOf MONDO:0005516 {source="DOID:0060288"} ! osteochondrodysplasia
property_value: closeMatch http://identifiers.org/mesh/C537746
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750355
property_value: exactMatch DOID:0060288
property_value: exactMatch http://identifiers.org/snomedct/725164008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510897
property_value: exactMatch Orphanet:2733

[Term]
id: MONDO:0017137
name: onchocerciasis
def: "Onchocerciasis is a form of filariasis (see this term), caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." [Orphanet:2737]
subset: gard_rare {source="GARD:0007252"}
subset: ordo_disease {source="Orphanet:2737"}
synonym: "infection by Onchocerca volvulus" EXACT []
synonym: "infection caused by Onchocerca volvulus" RELATED []
synonym: "Onchocerca volvulus infection" EXACT [DOID:11678, MTHICD9_2006:125.3]
synonym: "onchocerciasis" EXACT []
synonym: "onchocercosis" RELATED []
synonym: "River blindness" RELATED [GARD:0007252]
synonym: "Robles' disease" RELATED [GARD:0007252]
synonym: "volvulosis" EXACT [CSP2005:2214-3590, DOID:11678]
xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"}
xref: EFO:0007402 {source="MONDO:equivalentTo"}
xref: GARD:0007252 {source="MONDO:equivalentTo"}
xref: ICD10:B73 {source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737", source="ORDO:2737/e"}
xref: ICD9:125.3 {source="DOID:11678"}
xref: MedDRA:10030314 {source="Orphanet:2737", source="ORDO:2737/e"}
xref: MedDRA:10039202 {source="Orphanet:2737", source="ORDO:2737/e"}
xref: MESH:D009855 {source="DOID:11678", source="EFO:0007402", source="MONDO:equivalentTo", source="Orphanet:2737", source="MONDO:ontobio", source="ORDO:2737/e"}
xref: NCIT:C34861 {source="DOID:11678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:2737 {source="MONDO:equivalentTo"}
xref: SCTID:38539003 {source="DOID:11678", source="MONDO:equivalentTo"}
xref: UMLS:C0029001 {source="DOID:11678", source="MONDO:equivalentTo", source="NCIT:C34861", source="Orphanet:2737", source="ORDO:2737/e"}
is_a: MONDO:0005943 ! Rhabditida infectious disease
is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737", source="linkedlifedata", source="linkedlifedata/inferred"} ! filariasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0001941 {source="Wikidata"} ! blindness (disorder)
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: exactMatch DOID:11678
property_value: exactMatch http://identifiers.org/meddra/10030314
property_value: exactMatch http://identifiers.org/meddra/10039202
property_value: exactMatch http://identifiers.org/mesh/D009855
property_value: exactMatch http://identifiers.org/snomedct/38539003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029001
property_value: exactMatch NCIT:C34861
property_value: exactMatch Orphanet:2737
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis xsd:anyURI {source="GARD:0007252"}

[Term]
id: MONDO:0017138
name: Opitz G/BBB syndrome
def: "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see these terms)." [Orphanet:2745]
subset: gard_rare {source="GARD:0000193"}
subset: ordo_inheritance_inconsistent
subset: ordo_malformation_syndrome {source="Orphanet:2745"}
synonym: "BBB syndrome" RELATED [GARD:0000193]
synonym: "G syndrome" RELATED [GARD:0000193]
synonym: "GBBB syndrome" RELATED [GARD:0000193]
synonym: "hypertelorism hypospadias syndrome" RELATED [GARD:0000193]
synonym: "hypertelorism with esophageal abnormality and hypospadias" RELATED [GARD:0000193]
synonym: "hypertelorism-oesophageal abnormality-hypospadias syndrome" EXACT [Orphanet:2745]
synonym: "hypospadias-dysphagia syndrome" EXACT [Orphanet:2745]
synonym: "hypospadias-dysphagia, syndrome" RELATED [GARD:0000193]
synonym: "hypospadias-hypertelorism syndrome" EXACT [Orphanet:2745]
synonym: "Opitz BBBG syndrome" RELATED [GARD:0000193]
synonym: "Opitz G syndrome" EXACT [NCIT:C125487]
synonym: "Opitz G/BBB syndrome" EXACT [DOID:0050780]
synonym: "Opitz GBBB syndrome" EXACT [OMIMPS:300000]
synonym: "Opitz syndrome" EXACT [Orphanet:2745]
synonym: "Opitz-Frias syndrome" EXACT [Orphanet:2745]
synonym: "Opitz-G syndrome, type 2" RELATED [GARD:0000193]
synonym: "Opitz-GBBB syndrome" EXACT [MONDO:0000449]
synonym: "telecanthus with associated abnormalities" RELATED [GARD:0000193]
xref: DOID:0050780 {source="MONDO:equivalentTo"}
xref: GARD:0000193 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:2745/attributed", source="ORDO:2745/ntbt", source="Orphanet:2745"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: KEGG:H00583 {source="MONDO:equivalentTo", source="DOID:0050780"}
xref: NCIT:C125487 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:300000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2745 {source="MONDO:equivalentTo"}
xref: SCTID:81771002 {source="MONDO:kboom-pr-0.87/0.62/1.00", source="MONDO:equivalentTo"}
xref: UMLS:CN202554 {source="MONDO:equivalentTo"}
is_a: MONDO:0008537 {source="Orphanet:2745"} ! telecanthus
is_a: MONDO:0015159 {source="Orphanet:2745"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015222 {source="Orphanet:2745"} ! syndromic respiratory or mediastinal malformation
is_a: MONDO:0015246 {source="Orphanet:2745"} ! syndromic anorectal malformation
is_a: MONDO:0015620 {source="Orphanet:2745"} ! syndromic urogenital tract malformation
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2745"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1801950
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936904
property_value: exactMatch DOID:0050780
property_value: exactMatch http://identifiers.org/snomedct/81771002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202554
property_value: exactMatch NCIT:C125487
property_value: exactMatch Orphanet:2745
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome xsd:anyURI {source="GARD:0000193"}

[Term]
id: MONDO:0017139
name: oromandibular-limb hypogenesis syndrome
def: "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." [Orphanet:2749]
subset: ordo_group_of_disorders {source="Orphanet:2749"}
synonym: "oro-mandibular-limb hypogenesis syndrome" RELATED [GARD:0004116]
synonym: "Oroacral syndrome" EXACT [Orphanet:2749]
xref: GARD:0004116 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.5 {source="ORDO:2749/attributed", source="ORDO:2749/ntbt", source="Orphanet:2749"}
xref: Orphanet:2749 {source="MONDO:equivalentTo"}
xref: UMLS:CN202556 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015498 {source="Orphanet:2749"} ! oromandibular-limb anomalies syndrome
is_a: MONDO:0018236 {source="Orphanet:2749"} ! dysostosis with limb and face anomalies as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202556
property_value: exactMatch Orphanet:2749

[Term]
id: MONDO:0017140
name: L1 syndrome
def: "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." [Orphanet:275543]
subset: ordo_malformation_syndrome {source="Orphanet:275543"}
synonym: "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome" EXACT [Orphanet:275543]
synonym: "crash syndrome" EXACT [Orphanet:275543]
synonym: "L1CAM syndrome" EXACT [Orphanet:275543]
xref: GARD:0012524 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.8 {source="ORDO:275543/attributed", source="ORDO:275543/ntbt", source="Orphanet:275543"}
xref: Orphanet:275543 {source="MONDO:equivalentTo"}
xref: UMLS:CN118845 {source="MONDO:equivalentTo"}
is_a: MONDO:0017122 {source="Orphanet:275543"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0020119 {source="Orphanet:275543"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118845
property_value: exactMatch Orphanet:275543

[Term]
id: MONDO:0017141
name: hemorrhagic disorder due to a constitutional thrombocytopenia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:275729"}
synonym: "rare bleeding disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare bleeding disorder due to a quantitative platelet defect" EXACT [Orphanet:275729]
synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [Orphanet:275729]
synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [Orphanet:275729]
xref: Orphanet:275729 {source="MONDO:equivalentTo"}
xref: UMLS:CN227098 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019097 {source="Orphanet:275729"} ! hemorrhagic disorder due to a constitutional platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227098
property_value: exactMatch Orphanet:275729
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017142
name: hemorrhagic disorder due to a qualitative platelet defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:275736"}
synonym: "rare bleeding disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare bleeding disorder due to a qualitative platelet defect" EXACT [Orphanet:275736]
synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [Orphanet:275736]
synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [Orphanet:275736]
xref: ICD10:D69.8 {source="ORDO:275736/attributed", source="ORDO:275736/ntbt", source="Orphanet:275736"}
xref: Orphanet:275736 {source="MONDO:equivalentTo"}
xref: UMLS:CN227099 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019097 {source="Orphanet:275736"} ! hemorrhagic disorder due to a constitutional platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227099
property_value: exactMatch Orphanet:275736
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017143
name: genetic infertility
def: "Genetic infertility." []
subset: ordo_group_of_disorders {source="Orphanet:275742"}
synonym: "genetic infertility" EXACT [MONDO:patterns/genetic]
synonym: "hereditary infertility disorder" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:275742 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005047 {source="MONDO:Redundant", source="Orphanet:275742"} ! infertility disorder
intersection_of: MONDO:0005047 ! infertility disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:275742

[Term]
id: MONDO:0017144
name: alpha-thalassemia and related diseases
subset: ordo_group_of_disorders {source="Orphanet:275745"}
xref: ICD10:D56.0 {source="ORDO:275745/attributed", source="ORDO:275745/ntbt", source="MONDO:superClassOf", source="Orphanet:275745"}
xref: Orphanet:275745 {source="MONDO:equivalentTo"}
xref: UMLS:CN202570 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:275745", source="Orphanet:275745/inferred"} ! anemia (disease)
is_a: MONDO:0044348 ! hemoglobinopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202570
property_value: exactMatch Orphanet:275745

[Term]
id: MONDO:0017145
name: beta-thalassemia and related diseases
subset: ordo_group_of_disorders {source="Orphanet:275749"}
xref: ICD10:D56.1 {source="ORDO:275749/attributed", source="ORDO:275749/ntbt", source="Orphanet:275749"}
xref: Orphanet:275749 {source="MONDO:equivalentTo"}
xref: UMLS:CN202571 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:275749", source="Orphanet:275749/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="Orphanet:275749", source="Orphanet:275749/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202571
property_value: exactMatch Orphanet:275749

[Term]
id: MONDO:0017146
name: sickle cell disease and related diseases
subset: ordo_group_of_disorders {source="Orphanet:275752"}
xref: ICD10:D57.0 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"}
xref: ICD10:D57.1 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"}
xref: ICD10:D57.2 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"}
xref: ICD10:D57.3 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"}
xref: ICD10:D57.8 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"}
xref: Orphanet:275752 {source="MONDO:equivalentTo"}
xref: UMLS:CN202572 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:275752", source="Orphanet:275752/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="Orphanet:275752"} ! inherited hemoglobinopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202572
property_value: exactMatch Orphanet:275752

[Term]
id: MONDO:0017147
name: idiopathic pulmonary arterial hypertension
def: "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." [Orphanet:275766]
subset: ordo_etiological_subtype {source="Orphanet:275766"}
synonym: "IPAH" EXACT [Orphanet:275766]
synonym: "primary pulmonary arterial hypertension" EXACT [Orphanet:275766]
xref: ICD10:I27.0 {source="MONDO:subClassOf", source="ORDO:275766/attributed", source="ORDO:275766/ntbt", source="Orphanet:275766"}
xref: ICD9:416.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10065151 {source="Orphanet:275766", source="ORDO:275766/e"}
xref: Orphanet:275766 {source="MONDO:equivalentTo"}
xref: SCTID:697898008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3203102 {source="MONDO:equivalentTo", source="Orphanet:275766", source="ORDO:275766/e"}
xref: UMLS:CN202574 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008347 {source="Orphanet:275766"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: exactMatch http://identifiers.org/meddra/10065151
property_value: exactMatch http://identifiers.org/snomedct/697898008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3203102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202574
property_value: exactMatch Orphanet:275766

[Term]
id: MONDO:0017148
name: heritable pulmonary arterial hypertension
def: "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal." [Orphanet:275777]
subset: ordo_etiological_subtype {source="Orphanet:275777"}
synonym: "familial pulmonary arterial hypertension" EXACT [Orphanet:275777]
synonym: "FPAH" EXACT [Orphanet:275777]
synonym: "hereditary pulmonary arterial hypertension" EXACT [MONDO:patterns/hereditary, Orphanet:275777]
synonym: "HpaH" EXACT [Orphanet:275777]
xref: COHD:44783618 {source="MONDO:equivalentTo"}
xref: ICD10:I27.0 {source="MONDO:subClassOf", source="ORDO:275777/attributed", source="ORDO:275777/ntbt", source="Orphanet:275777"}
xref: NCIT:C121945 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:275777 {source="MONDO:equivalentTo"}
xref: SCTID:697897003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN202575 {source="MONDO:equivalentTo"}
is_a: MONDO:0008347 {source="Orphanet:275777"} ! idiopathic and/or familial pulmonary arterial hypertension
is_a: MONDO:0015512 ! genetic hypertension
intersection_of: MONDO:0015924 ! pulmonary arterial hypertension
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340543
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1701939
property_value: exactMatch http://identifiers.org/snomedct/697897003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202575
property_value: exactMatch NCIT:C121945
property_value: exactMatch Orphanet:275777

[Term]
id: MONDO:0017149
name: drug- or toxin-induced pulmonary arterial hypertension
def: "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." [Orphanet:275786]
subset: ordo_group_of_disorders {source="Orphanet:275786"}
synonym: "drug- or toxin-induced PAH" EXACT [Orphanet:275786]
xref: EFO:0009192 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="ORDO:275786/ntbt", source="Orphanet:275786"}
xref: Orphanet:275786 {source="MONDO:equivalentTo"}
xref: UMLS:C0340544 {source="MONDO:equivalentTo", source="Orphanet:275786", source="ORDO:275786/e"}
is_a: MONDO:0015924 {source="Orphanet:275786"} ! pulmonary arterial hypertension
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340544
property_value: exactMatch Orphanet:275786

[Term]
id: MONDO:0017150
name: pulmonary arterial hypertension associated with another disease
def: "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." [Orphanet:275791]
subset: ordo_group_of_disorders {source="Orphanet:275791"}
synonym: "PAH associated with another disease" EXACT [Orphanet:275791]
synonym: "secondary PAH" EXACT [Orphanet:275791]
xref: EFO:0009193 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="Orphanet:275791", source="ORDO:275791/ntbt"}
xref: Orphanet:275791 {source="MONDO:equivalentTo"}
xref: UMLS:CN202577 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015924 {source="Orphanet:275791"} ! pulmonary arterial hypertension
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202577
property_value: exactMatch Orphanet:275791

[Term]
id: MONDO:0017151
name: pulmonary arterial hypertension associated with connective tissue disease
def: "Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." [Orphanet:275798]
subset: ordo_group_of_disorders {source="Orphanet:275798"}
synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798]
xref: EFO:0009196 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="ORDO:275798/ntbt", source="Orphanet:275798"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275798 {source="MONDO:equivalentTo"}
xref: SCTID:697903007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3697982 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN202578 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017150 {source="EFO:0009196", source="Orphanet:275798"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/697903007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3697982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202578
property_value: exactMatch Orphanet:275798

[Term]
id: MONDO:0017152
name: pulmonary arterial hypertension associated with congenital heart disease
def: "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." [Orphanet:275803]
subset: ordo_group_of_disorders {source="Orphanet:275803"}
synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803]
xref: EFO:0009054 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="Orphanet:275803", source="ORDO:275803/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275803 {source="MONDO:equivalentTo"}
xref: SCTID:697905000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3697119 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN243982 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017150 {source="EFO:0009054", source="Orphanet:275803"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/697905000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3697119
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN243982
property_value: exactMatch Orphanet:275803

[Term]
id: MONDO:0017153
name: pulmonary arterial hypertension associated with HIV infection
def: "Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." [Orphanet:275808]
subset: ordo_group_of_disorders {source="Orphanet:275808"}
synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808]
xref: EFO:0009194 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="Orphanet:275808", source="ORDO:275808/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275808 {source="MONDO:equivalentTo"}
xref: SCTID:697904001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3697673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017150 {source="EFO:0009194", source="Orphanet:275808"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/697904001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3697673
property_value: exactMatch Orphanet:275808

[Term]
id: MONDO:0017154
name: pulmonary arterial hypertension associated with portal hypertension
def: "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." [Orphanet:275813]
subset: ordo_group_of_disorders {source="Orphanet:275813"}
synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813]
synonym: "POPH" EXACT [Orphanet:275813]
synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813]
xref: EFO:0009197 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="ORDO:275813/ntbt", source="Orphanet:275813"}
xref: Orphanet:275813 {source="MONDO:equivalentTo"}
xref: SCTID:445237003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1868851 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:275813"}
is_a: MONDO:0017150 {source="EFO:0009197", source="Orphanet:275813"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/445237003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868851
property_value: exactMatch Orphanet:275813

[Term]
id: MONDO:0017155
name: pulmonary arterial hypertension associated with schistosomiasis
def: "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term)." [Orphanet:275823]
subset: ordo_group_of_disorders {source="Orphanet:275823"}
synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823]
xref: EFO:0009198 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="ORDO:275823/ntbt", source="Orphanet:275823"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275823 {source="MONDO:equivalentTo"}
xref: SCTID:697907008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3697477 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017150 {source="EFO:0009198", source="Orphanet:275823"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/697907008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3697477
property_value: exactMatch Orphanet:275823

[Term]
id: MONDO:0017156
name: pulmonary arterial hypertension associated with chronic hemolytic anemia
def: "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." [Orphanet:275828]
subset: ordo_group_of_disorders {source="Orphanet:275828"}
synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828]
xref: EFO:0009195 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="Orphanet:275828", source="ORDO:275828/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275828 {source="MONDO:equivalentTo"}
xref: SCTID:697908003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3698315 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017150 {source="EFO:0009195", source="Orphanet:275828"} ! pulmonary arterial hypertension associated with another disease
property_value: exactMatch http://identifiers.org/snomedct/697908003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3698315
property_value: exactMatch Orphanet:275828

[Term]
id: MONDO:0017157
name: pulmonary hypertension owing to lung disease and/or hypoxia
subset: ordo_group_of_disorders {source="Orphanet:275837"}
synonym: "PH due to lung disease and/or hypoxia" EXACT [Orphanet:275837]
synonym: "PH owing to lung disease and/or hypoxia" EXACT [Orphanet:275837]
synonym: "pulmonary hypertension due to lung disease and/or hypoxia" EXACT [Orphanet:275837]
xref: ICD10:I27.2 {source="ORDO:275837/ntbt", source="Orphanet:275837"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:275837 {source="MONDO:equivalentTo"}
xref: SCTID:697910001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3698136 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202580 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005149 {source="Orphanet:275837"} ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/697910001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3698136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202580
property_value: exactMatch Orphanet:275837

[Term]
id: MONDO:0017158
name: pulmonary hypertension with unclear multifactorial mechanism
subset: ordo_group_of_disorders {source="Orphanet:275844"}
synonym: "PH with unclear multifactorial mechanism" EXACT [Orphanet:275844]
xref: Orphanet:275844 {source="MONDO:equivalentTo"}
is_a: MONDO:0005149 {source="Orphanet:275844"} ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: exactMatch Orphanet:275844

[Term]
id: MONDO:0017159
name: syndrome with pulmonary hypertension as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:275853"}
xref: Orphanet:275853 {source="MONDO:equivalentTo"}
xref: UMLS:CN202581 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0005149 {source="Orphanet:275853"} ! pulmonary hypertension
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_major_feature MONDO:0005149 ! pulmonary hypertension
relationship: disease_has_major_feature MONDO:0005149 ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202581
property_value: exactMatch Orphanet:275853
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017160
name: behavioral variant of frontotemporal dementia
def: "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." [Orphanet:275864]
subset: ordo_disease {source="Orphanet:275864"}
synonym: "bv-FTD" EXACT [Orphanet:275864]
xref: ICD10:G31.0 {source="ORDO:275864/attributed", source="ORDO:275864/ntbt", source="Orphanet:275864"}
xref: Orphanet:275864 {source="MONDO:equivalentTo"}
xref: SCTID:716994006 {source="MONDO:equivalentTo"}
xref: UMLS:C4011788 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017276 {source="Orphanet:275864"} ! frontotemporal dementia
is_a: MONDO:0017643 {source="Orphanet:275864"} ! frontotemporal neurodegeneration with movement disorder
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/snomedct/716994006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011788
property_value: exactMatch Orphanet:275864

[Term]
id: MONDO:0017161
name: frontotemporal dementia with motor neuron disease
def: "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset." [Orphanet:275872]
subset: ordo_disease {source="Orphanet:275872"}
synonym: "frontotemporal dementia with amyotrophic lateral sclerosis" EXACT [Orphanet:275872]
synonym: "FTD-ALS" EXACT [Orphanet:275872]
synonym: "FTD-MND" EXACT [Orphanet:275872]
xref: OMIMPS:105550 {source="todo-check", source="MONDO:equivalentTo"}
xref: Orphanet:275872 {source="MONDO:equivalentTo"}
xref: UMLS:C3888102 {source="Orphanet:275872", source="MONDO:equivalentTo"}
xref: UMLS:CN239493 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017643 {source="Orphanet:275872"} ! frontotemporal neurodegeneration with movement disorder
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020137 {source="Orphanet:275872"} ! frontotemporal degeneration with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:275872/inferred"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239493
property_value: exactMatch Orphanet:275872

[Term]
id: MONDO:0017162
name: imperforate oropharynx-costo vetebral anomalies syndrome
def: "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." [Orphanet:2759]
subset: ordo_malformation_syndrome {source="Orphanet:2759"}
synonym: "imperforate oropharynx-costo vetebral anomalies" RELATED [GARD:0002989]
synonym: "imperforate oropharynx-costovertebral anomalies syndrome" RELATED [Orphanet:2759]
synonym: "Seghers syndrome" EXACT [Orphanet:2759]
xref: GARD:0002989 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:2759 {source="MONDO:equivalentTo"}
xref: UMLS:CN202584 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019711 {source="Orphanet:2759"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202584
property_value: exactMatch Orphanet:2759

[Term]
id: MONDO:0017163
name: hemolytic disease due to fetomaternal alloimmunization
subset: ordo_group_of_disorders {source="Orphanet:275938"}
synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938]
xref: ICD10:P55.0 {source="Orphanet:275938", source="ORDO:275938/btnt"}
xref: ICD10:P55.1 {source="Orphanet:275938", source="ORDO:275938/btnt"}
xref: ICD10:P55.8 {source="Orphanet:275938", source="ORDO:275938/btnt"}
xref: ICD10:P55.9 {source="Orphanet:275938", source="ORDO:275938/btnt"}
xref: Orphanet:275938 {source="MONDO:equivalentTo"}
xref: UMLS:CN202585 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003664 {source="Orphanet:275938"} ! hemolytic anemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202585
property_value: exactMatch Orphanet:275938

[Term]
id: MONDO:0017164
name: hemolytic disease of the newborn with Kell alloimmunization
subset: ordo_disease {source="Orphanet:275944"}
synonym: "anti-K HDN" EXACT [Orphanet:275944]
synonym: "maternal anti-Kell alloimmunization" EXACT [Orphanet:275944]
xref: ICD10:P55.8 {source="ORDO:275944/ntbt", source="Orphanet:275944"}
xref: Orphanet:275944 {source="MONDO:equivalentTo"}
xref: UMLS:CN202586 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017163 {source="Orphanet:275944"} ! hemolytic disease due to fetomaternal alloimmunization
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202586
property_value: exactMatch Orphanet:275944

[Term]
id: MONDO:0017165
name: bile acid CoA ligase deficiency and defective amidation
def: "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure." [Orphanet:276066]
subset: ordo_disease {source="Orphanet:276066"}
xref: Orphanet:276066 {source="MONDO:equivalentTo"}
xref: SCTID:717047007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274079 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015581 {source="Orphanet:276066"} ! bile acid synthesis defect with cholestasis and malabsorption
property_value: exactMatch http://identifiers.org/snomedct/717047007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274079
property_value: exactMatch Orphanet:276066

[Term]
id: MONDO:0017166
name: rare tumor of salivary glands
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:276142"}
xref: Orphanet:276142 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="Orphanet:276142"} ! head and neck neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="Orphanet:276142"} ! digestive system neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017371", source="MONDO:0019997", source="MONDO:0020033"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036095
property_value: exactMatch Orphanet:276142
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017167
name: malignant epithelial tumor of salivary glands
subset: ordo_disease {source="Orphanet:276145"}
synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145]
xref: ICD10:C07 {source="Orphanet:276145", source="ORDO:276145/btnt"}
xref: ICD10:C08.0 {source="Orphanet:276145", source="ORDO:276145/btnt"}
xref: ICD10:C08.1 {source="Orphanet:276145", source="ORDO:276145/btnt"}
xref: ICD10:C08.8 {source="Orphanet:276145", source="ORDO:276145/btnt"}
xref: Orphanet:276145 {source="MONDO:equivalentTo"}
xref: UMLS:CN202591 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017166 {source="Orphanet:276145"} ! rare tumor of salivary glands
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202591
property_value: exactMatch Orphanet:276145

[Term]
id: MONDO:0017168
name: benign epithelial tumor of salivary glands
subset: ordo_disease {source="Orphanet:276148"}
xref: ICD10:D11.0 {source="MONDO:relatedTo", source="ORDO:276148/btnt", source="Orphanet:276148"}
xref: ICD10:D11.7 {source="ORDO:276148/btnt", source="Orphanet:276148"}
xref: Orphanet:276148 {source="MONDO:equivalentTo"}
xref: UMLS:CN202592 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017166 {source="Orphanet:276148"} ! rare tumor of salivary glands
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202592
property_value: exactMatch Orphanet:276148

[Term]
id: MONDO:0017169
name: multiple endocrine neoplasia
def: "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." [Orphanet:276161]
subset: ordo_group_of_disorders {source="Orphanet:276161"}
synonym: "men" EXACT [NCIT:C6432, Orphanet:276161]
synonym: "men syndrome" EXACT [NCIT:C6432]
synonym: "men syndromes" EXACT [NCIT:C6432]
synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia syndrome" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia syndrome(s)" EXACT [NCIT:C6432]
xref: DC:0000291 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="ORDO:276161/inclusion", source="Orphanet:276161", source="ORDO:276161/ntbt"}
xref: ICD9:258.0 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:8360/1 {source="NCIT:C6432"}
xref: MedDRA:10061299 {source="Orphanet:276161", source="ORDO:276161/e"}
xref: NCIT:C6432 {source="MONDO:equivalentTo", source="kboom:pr0.78-conf4.37"}
xref: OMIMPS:131100 {source="MONDO:equivalentTo", source="DC:0000291"}
xref: Orphanet:276161 {source="MONDO:equivalentTo"}
xref: SCTID:46724008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.37"}
xref: UMLS:C0027662 {source="NCIT:C6432", source="MONDO:equivalentTo", source="Orphanet:276161", source="ORDO:276161/e"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0015079 {source="Orphanet:276161"} ! multiple polyglandular tumor
is_a: MONDO:0021058 {source="NCIT:C6432"} ! neoplastic syndrome
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
property_value: exactMatch http://identifiers.org/meddra/10061299
property_value: exactMatch http://identifiers.org/snomedct/46724008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027662
property_value: exactMatch NCIT:C6432
property_value: exactMatch Orphanet:276161

[Term]
id: MONDO:0017170
name: idiopathic recurrent stupor
def: "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." [Orphanet:276174]
subset: ordo_disease {source="Orphanet:276174"}
xref: Orphanet:276174 {source="MONDO:equivalentTo"}
xref: SCTID:763739002 {source="MONDO:equivalentTo"}
xref: UMLS:CN202595 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:276174"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/763739002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202595
property_value: exactMatch Orphanet:276174

[Term]
id: MONDO:0017171
name: mucopolysaccharidosis type 6, rapidly progressing
subset: ordo_clinical_subtype {source="Orphanet:276212"}
synonym: "arylsulfatase B deficiency, rapidly progressing" EXACT [Orphanet:276212]
synonym: "MPS6, rapidly progressing" EXACT [Orphanet:276212]
synonym: "MPSVI, rapidly progressing" EXACT [Orphanet:276212]
synonym: "mucopolysaccharidosis type VI, rapidly progressing" EXACT [Orphanet:276212]
xref: ICD10:E76.2 {source="Orphanet:276212", source="ORDO:276212/attributed", source="ORDO:276212/ntbt"}
xref: Orphanet:276212 {source="MONDO:equivalentTo"}
xref: UMLS:CN202600 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009661 {source="MONDOLEX:0017171", source="Orphanet:276212"} ! mucopolysaccharidosis type 6
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202600
property_value: exactMatch Orphanet:276212

[Term]
id: MONDO:0017172
name: mucopolysaccharidosis type 6, slowly progressing
subset: ordo_clinical_subtype {source="Orphanet:276223"}
synonym: "arylsulfatase B deficiency, slowly progressing" EXACT [Orphanet:276223]
synonym: "MPS6, slowly progressing" EXACT [Orphanet:276223]
synonym: "MPSVI, slowly progressing" EXACT [Orphanet:276223]
synonym: "mucopolysaccharidosis type VI, slowly progressing" EXACT [Orphanet:276223]
xref: ICD10:E76.2 {source="Orphanet:276223", source="ORDO:276223/attributed", source="ORDO:276223/ntbt"}
xref: Orphanet:276223 {source="MONDO:equivalentTo"}
xref: UMLS:CN202601 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009661 {source="MONDOLEX:0017172", source="Orphanet:276223"} ! mucopolysaccharidosis type 6
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202601
property_value: exactMatch Orphanet:276223

[Term]
id: MONDO:0017173
name: non-syndromic male infertility due to sperm motility disorder
def: "Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." [Orphanet:276234]
subset: ordo_disease {source="Orphanet:276234"}
synonym: "isolated male infertility due to sperm motility disorder" EXACT []
synonym: "isolated male infertility due to sperm motility disorder" RELATED [MONDO:DesignPattern]
synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234]
synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:276234", source="ORDO:276234/attributed", source="ORDO:276234/ntbt"}
xref: Orphanet:276234 {source="MONDO:equivalentTo"}
xref: UMLS:CN202602 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018395 {source="MONDO:Redundant", source="Orphanet:276234"} ! male infertility due to sperm motility disorder
intersection_of: MONDO:0018395 ! male infertility due to sperm motility disorder
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202602
property_value: exactMatch Orphanet:276234

[Term]
id: MONDO:0017174
name: Machado-Joseph disease type 1
def: "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs." [Orphanet:276238]
subset: ordo_clinical_subtype {source="Orphanet:276238"}
synonym: "azorean disease, type i" EXACT []
synonym: "SCA3, Joseph type" EXACT [Orphanet:276238]
synonym: "spinocerebellar ataxia type 3, Joseph type" EXACT [Orphanet:276238]
xref: ICD10:G11.8 {source="ORDO:276238/attributed", source="ORDO:276238/ntbt", source="Orphanet:276238"}
xref: Orphanet:276238 {source="MONDO:equivalentTo"}
xref: SCTID:91953003 {source="MONDO:equivalentTo"}
is_a: MONDO:0007182 {source="Orphanet:276238", source="linkedlifedata"} ! Machado-Joseph disease
property_value: exactMatch http://identifiers.org/snomedct/91953003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751668
property_value: exactMatch Orphanet:276238

[Term]
id: MONDO:0017175
name: Machado-Joseph disease type 2
def: "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." [Orphanet:276241]
subset: ordo_clinical_subtype {source="Orphanet:276241"}
synonym: "azorean disease, type ii" EXACT []
synonym: "SCA3, Thomas type" EXACT [Orphanet:276241]
synonym: "spinocerebellar ataxia, Thomas type" EXACT [Orphanet:276241]
xref: ICD10:G11.8 {source="Orphanet:276241", source="ORDO:276241/attributed", source="ORDO:276241/ntbt"}
xref: Orphanet:276241 {source="MONDO:equivalentTo"}
xref: SCTID:91954009 {source="MONDO:equivalentTo"}
is_a: MONDO:0007182 {source="Orphanet:276241", source="linkedlifedata"} ! Machado-Joseph disease
property_value: exactMatch http://identifiers.org/snomedct/91954009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751669
property_value: exactMatch Orphanet:276241

[Term]
id: MONDO:0017176
name: Machado-Joseph disease type 3
def: "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." [Orphanet:276244]
subset: ordo_clinical_subtype {source="Orphanet:276244"}
synonym: "azorean disease, type iii" EXACT []
synonym: "SCA3, Machado type" EXACT [Orphanet:276244]
synonym: "spinocerebellar ataxia type 3, Machado type" EXACT [Orphanet:276244]
xref: ICD10:G11.8 {source="Orphanet:276244", source="ORDO:276244/attributed", source="ORDO:276244/ntbt"}
xref: Orphanet:276244 {source="MONDO:equivalentTo"}
xref: SCTID:91955005 {source="MONDO:equivalentTo"}
is_a: MONDO:0007182 {source="Orphanet:276244", source="linkedlifedata"} ! Machado-Joseph disease
property_value: exactMatch http://identifiers.org/snomedct/91955005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751670
property_value: exactMatch Orphanet:276244

[Term]
id: MONDO:0017177
name: hemihyperplasia-multiple lipomatosis syndrome
def: "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." [Orphanet:276280]
subset: ordo_malformation_syndrome {source="Orphanet:276280"}
synonym: "HHML" EXACT [Orphanet:276280]
xref: ICD10:Q87.3 {source="ORDO:276280/attributed", source="ORDO:276280/ntbt", source="Orphanet:276280"}
xref: Orphanet:276280 {source="MONDO:equivalentTo"}
xref: UMLS:CN202613 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015501 {source="Orphanet:276280"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0019716 {source="Orphanet:276280"} ! overgrowth syndrome
is_a: MONDO:0020063 {source="Orphanet:276280"} ! malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:276280"} ! rare capillary malformation with associated anomalies
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:276280"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202613
property_value: exactMatch Orphanet:276280

[Term]
id: MONDO:0017178
name: osteochondritis dissecans (disease)
def: "Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." [Orphanet:2764]
subset: ordo_disease {source="Orphanet:251262", source="Orphanet:2764"}
synonym: "familial osteochondritis dissecans" RELATED [Orphanet:251262]
synonym: "Koenig disease" EXACT []
synonym: "Konig disease" EXACT [Orphanet:2764]
synonym: "König disease" EXACT [Orphanet:2764]
synonym: "OCD" EXACT [CSP2005:2483-7050, DOID:84]
synonym: "OD" RELATED [MONDO:Lexical, OMIM:165800]
synonym: "osteochondritis dissecans" EXACT [MONDO:ambiguous]
synonym: "osteochondritis dissecans and short stature" EXACT [Orphanet:251262]
synonym: "osteochondritis DISSECANS, short stature, and early-onset osteoarthritis" RELATED [MONDO:Lexical, OMIM:165800]
synonym: "osteochondritis DISSECANS, short stature, and early-onset osteoarthritis; OD" RELATED [OMIM:165800]
synonym: "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" RELATED [OMIM:165800]
synonym: "short stature and advanced bone AGE, with or without early-onset osteoarthritis and/OR osteochondritis DISSECANS; SSOAOD" RELATED [OMIM:165800]
synonym: "SSOAOD" RELATED [OMIM:165800]
xref: COHD:437359 {source="MONDO:equivalentTo"}
xref: DOID:84 {source="MONDO:equivalentTo"}
xref: GARD:0004133 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0010886 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M93.2 {source="Orphanet:251262", source="Orphanet:2764", source="ORDO:2764/e", source="ORDO:251262/attributed", source="ORDO:251262/ntbt", source="DOID:84"}
xref: ICD10:M93.9 {source="DOID:84"}
xref: ICD9:732.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:84"}
xref: MedDRA:10031231 {source="Orphanet:2764", source="ORDO:2764/e"}
xref: MESH:D010008 {source="Orphanet:2764", source="ORDO:2764/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:84"}
xref: NCIT:C34878 {source="MONDO:equivalentTo", source="DOID:84"}
xref: OMIM:165800 {source="ORDO:251262/e", source="Orphanet:251262", source="MONDO:equivalentTo", source="DOID:84"}
xref: Orphanet:251262 {source="MONDO:equivalentTo", source="OMIM:165800"}
xref: Orphanet:2764 {source="MONDO:equivalentTo"}
xref: SCTID:82562007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.18", source="DOID:84"}
xref: UMLS:C0029421 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:2764", source="NCBI:mim2gene_medline", source="ORDO:2764/e", source="MONDO:equivalentTo", source="DOID:84"}
is_a: MONDO:0018239 {source="Orphanet:251262"} ! aggrecan-related bone disorder
is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:251262"} ! osteonecrosis of genetic origin
property_value: closeMatch http://identifiers.org/mesh/D010007
property_value: closeMatch http://identifiers.org/snomedct/156821002
property_value: closeMatch http://identifiers.org/snomedct/156822009
property_value: closeMatch http://identifiers.org/snomedct/203424002
property_value: closeMatch http://identifiers.org/snomedct/203425001
property_value: closeMatch http://identifiers.org/snomedct/268027006
property_value: closeMatch http://identifiers.org/snomedct/268125000
property_value: closeMatch http://identifiers.org/snomedct/70736000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029420
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665488
property_value: closeMatch NCIT:C34877
property_value: exactMatch DOID:84
property_value: exactMatch http://identifiers.org/meddra/10031231
property_value: exactMatch http://identifiers.org/mesh/D010008
property_value: exactMatch http://identifiers.org/omim/165800
property_value: exactMatch http://identifiers.org/snomedct/82562007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029421
property_value: exactMatch NCIT:C34878
property_value: exactMatch Orphanet:251262
property_value: exactMatch Orphanet:2764

[Term]
id: MONDO:0017179
name: limbic encephalitis with caspr2 antibodies
def: "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." [Orphanet:276402]
subset: ordo_disease {source="Orphanet:276402"}
xref: ICD10:G13.1 {source="ORDO:276402/ntbt", source="Orphanet:276402"}
xref: Orphanet:276402 {source="MONDO:equivalentTo"}
xref: SCTID:763793004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015594 {source="Orphanet:276402"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch http://identifiers.org/snomedct/763793004
property_value: exactMatch Orphanet:276402

[Term]
id: MONDO:0017180
name: 10q22.3q23.3 microduplication syndrome
subset: ordo_malformation_syndrome {source="Orphanet:276422"}
synonym: "dup(10)(q22.3q23.3)" EXACT [Orphanet:276422]
synonym: "trisomy 10q22.3q23.3" EXACT [Orphanet:276422]
xref: ICD10:Q92.3 {source="Orphanet:276422", source="ORDO:276422/attributed", source="ORDO:276422/ntbt"}
xref: Orphanet:276422 {source="MONDO:equivalentTo"}
xref: UMLS:CN202619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016961 {source="Orphanet:276422"} ! partial duplication of the long arm of chromosome 10
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202619
property_value: exactMatch Orphanet:276422

[Term]
id: MONDO:0017181
name: hypnic headache (disease)
def: "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." [MESH:D051270]
subset: ordo_disease {source="Orphanet:276429"}
synonym: "hypnic headache" EXACT [MONDO:ambiguous]
xref: GARD:0010796 {source="MONDO:equivalentTo"}
xref: HP:0012459 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G44.8 {source="ORDO:276429/ntbt", source="Orphanet:276429"}
xref: ICD9:339.81 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D051270 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:276429 {source="MONDO:equivalentTo"}
xref: SCTID:122711000119109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0021146 {source="Orphanet:276429"} ! headache disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D051270
property_value: exactMatch http://identifiers.org/snomedct/122711000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752150
property_value: exactMatch Orphanet:276429

[Term]
id: MONDO:0017182
name: familial hyperinsulinism
def: "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:276525"}
synonym: "congenital hyperinsulinism" EXACT [NCIT:C131425]
synonym: "familial hyperinsulinemic hypoglycemia" EXACT [Orphanet:276525]
synonym: "FHI" EXACT [Orphanet:276525]
synonym: "hereditary hyperinsulinism (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "HHI" EXACT [NCIT:C131425]
synonym: "hyperinsulinemia of infancy" EXACT [NCIT:C131425]
synonym: "hyperinsulinemic hypoglycemia" EXACT [NCIT:C131425]
synonym: "Neonatal hyperinsulinism" EXACT [NCIT:C131425]
synonym: "Nesidioblastosis" EXACT [NCIT:C131425]
xref: ICD10:E16.1 {source="ORDO:276525/attributed", source="ORDO:276525/ntbt", source="Orphanet:276525"}
xref: NCIT:C131425 {source="MONDO:equivalentTo"}
xref: Orphanet:276525 {source="MONDO:equivalentTo"}
is_a: MONDO:0002177 ! hyperinsulinism (disease)
is_a: MONDO:0018619 {source="Orphanet:276525"} ! hyperinsulinemic hypoglycaemia
is_a: MONDO:0019052 ! inborn errors of metabolism
intersection_of: MONDO:0002177 ! hyperinsulinism (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931834
property_value: exactMatch NCIT:C131425
property_value: exactMatch Orphanet:276525

[Term]
id: MONDO:0017183
name: hyperinsulinism due to UCP2 deficiency
def: "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." [Orphanet:276556]
subset: ordo_disease {source="Orphanet:276556"}
synonym: "hyperinsulinemic hypoglycemia due to UCP2 deficiency" EXACT [Orphanet:276556]
xref: ICD10:E16.1 {source="ORDO:276556/attributed", source="ORDO:276556/ntbt", source="Orphanet:276556"}
xref: Orphanet:276556 {source="MONDO:equivalentTo"}
xref: SCTID:721834007 {source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"}
xref: UMLS:C4303082 {source="MONDO:equivalentTo"}
is_a: MONDO:0015624 {source="Orphanet:276556"} ! diazoxide-sensitive diffuse hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/721834007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303082
property_value: exactMatch Orphanet:276556

[Term]
id: MONDO:0017184
name: autosomal dominant hyperinsulinism due to SUR1 deficiency
def: "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term)." [Orphanet:276575]
subset: ordo_disease {source="Orphanet:276575"}
synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:276575]
xref: ICD10:E16.1 {source="Orphanet:276575", source="ORDO:276575/attributed", source="ORDO:276575/ntbt"}
xref: Orphanet:276575 {source="MONDO:equivalentTo"}
xref: SCTID:717046003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274080 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN202625 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005803 {source="MONDO:cjm"} ! hyperinsulinemic hypoglycemia (disease)
is_a: MONDO:0015624 {source="Orphanet:276575"} ! diazoxide-sensitive diffuse hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/717046003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202625
property_value: exactMatch Orphanet:276575

[Term]
id: MONDO:0017185
name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency
def: "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term)." [Orphanet:276580]
subset: ordo_disease {source="Orphanet:276580"}
synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:276580]
synonym: "dominant KATP hyperinsulinism due to Kir6.2 deficiency" EXACT [Orphanet:276580]
xref: ICD10:E16.1 {source="ORDO:276580/attributed", source="ORDO:276580/ntbt", source="Orphanet:276580"}
xref: Orphanet:276580 {source="MONDO:equivalentTo"}
xref: SCTID:717045004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274081 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN202626 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0015624 {source="Orphanet:276580"} ! diazoxide-sensitive diffuse hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/717045004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274081
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202626
property_value: exactMatch Orphanet:276580

[Term]
id: MONDO:0017186
name: diazoxide-resistant hyperinsulinism
def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." [Orphanet:276585]
subset: ordo_group_of_disorders {source="Orphanet:276585"}
synonym: "diazoxide-resistant hyperinsulinemic hypoglycemia" EXACT [Orphanet:276585]
xref: ICD10:E16.1 {source="Orphanet:276585", source="ORDO:276585/attributed", source="ORDO:276585/ntbt"}
xref: Orphanet:276585 {source="MONDO:equivalentTo"}
is_a: MONDO:0019010 {source="Orphanet:276585"} ! congenital isolated hyperinsulinism
property_value: exactMatch Orphanet:276585

[Term]
id: MONDO:0017187
name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
subset: ordo_disease {source="Orphanet:276598"}
synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276598]
xref: ICD10:E16.1 {source="Orphanet:276598", source="ORDO:276598/attributed", source="ORDO:276598/ntbt"}
xref: Orphanet:276598 {source="MONDO:equivalentTo"}
is_a: MONDO:0009734 {source="MONDOLEX:0017187"} ! hyperinsulinemic hypoglycemia, familial, 1
is_a: MONDO:0019265 {source="Orphanet:276598"} ! diazoxide-resistant focal hyperinsulinism
property_value: exactMatch Orphanet:276598

[Term]
id: MONDO:0017188
name: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
subset: ordo_disease {source="Orphanet:276603"}
synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276603]
xref: ICD10:E16.1 {source="ORDO:276603/attributed", source="ORDO:276603/ntbt", source="Orphanet:276603"}
xref: Orphanet:276603 {source="MONDO:equivalentTo"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0019265 {source="Orphanet:276603"} ! diazoxide-resistant focal hyperinsulinism
property_value: exactMatch Orphanet:276603

[Term]
id: MONDO:0017189
name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" [Orphanet:276608]
subset: ordo_disease {source="Orphanet:276608"}
synonym: "NI-PHH" EXACT [Orphanet:276608]
xref: ICD10:E16.1 {source="ORDO:276608/attributed", source="ORDO:276608/ntbt", source="Orphanet:276608"}
xref: Orphanet:276608 {source="MONDO:equivalentTo"}
xref: SCTID:717044000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C4274082 {source="MONDO:equivalentTo"}
is_a: MONDO:0017182 {source="Orphanet:276608"} ! familial hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/717044000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274082
property_value: exactMatch Orphanet:276608

[Term]
id: MONDO:0017190
name: sporadic pheochromocytoma/secreting paraganglioma
def: "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." [Orphanet:276621]
subset: ordo_disease {source="Orphanet:276621"}
xref: GARD:0007385 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C74.1 {source="ORDO:276621/ntbt", source="Orphanet:276621"}
xref: ICD10:D35.0 {source="ORDO:276621/ntbt", source="Orphanet:276621"}
xref: Orphanet:276621 {source="MONDO:equivalentTo"}
xref: UMLS:CN202630 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="MONDO:cjm"} ! paraganglioma
is_a: MONDO:0019116 {source="Orphanet:276621"} ! catecholamine-producing tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202630
property_value: exactMatch Orphanet:276621

[Term]
id: MONDO:0017191
name: sporadic pheochromocytoma
subset: ordo_clinical_subtype {source="Orphanet:276624"}
xref: ICD10:C74.1 {source="ORDO:276624/ntbt", source="Orphanet:276624"}
xref: ICD10:D35.0 {source="ORDO:276624/ntbt", source="Orphanet:276624"}
xref: Orphanet:276624 {source="MONDO:equivalentTo"}
xref: UMLS:CN202631 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017190 {source="Orphanet:276624"} ! sporadic pheochromocytoma/secreting paraganglioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202631
property_value: exactMatch Orphanet:276624

[Term]
id: MONDO:0017192
name: sporadic secreting paraganglioma
subset: ordo_clinical_subtype {source="Orphanet:276627"}
xref: ICD10:C75.5 {source="ORDO:276627/ntbt", source="Orphanet:276627"}
xref: ICD10:D44.7 {source="ORDO:276627/ntbt", source="Orphanet:276627"}
xref: Orphanet:276627 {source="MONDO:equivalentTo"}
xref: UMLS:CN202632 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017190 {source="Orphanet:276627"} ! sporadic pheochromocytoma/secreting paraganglioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202632
property_value: exactMatch Orphanet:276627

[Term]
id: MONDO:0017193
name: symptomatic form of Coffin-Lowry syndrome in female carriers
subset: ordo_malformation_syndrome {source="Orphanet:276630"}
xref: ICD10:Q87.0 {source="Orphanet:276630", source="ORDO:276630/attributed", source="ORDO:276630/ntbt"}
xref: Orphanet:276630 {source="MONDO:equivalentTo"}
xref: UMLS:CN202633 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0043007 {source="Orphanet:276630"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202633
property_value: exactMatch Orphanet:276630

[Term]
id: MONDO:0017194
name: Blount disease
def: "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." [Orphanet:2768]
subset: gard_rare {source="GARD:0000916"}
subset: ordo_malformation_syndrome {source="Orphanet:2768"}
synonym: "Blount disease" EXACT [DOID:14798]
synonym: "Blount's disease" EXACT [MONDO:0002020]
synonym: "Blount-Barber syndrome" RELATED [GARD:0000916]
synonym: "Erlacher-Blount syndrome" RELATED [GARD:0000916]
synonym: "familial infantile type osteochondrosis deformans tibiae" EXACT [DOID:14798]
synonym: "infantile tibia vara" EXACT [Orphanet:2768]
synonym: "Osteochondrosis deformans tibiae" EXACT [Orphanet:2768]
synonym: "Osteochondrosis deformans tibiae, familial infantile type" RELATED [GARD:0000916]
synonym: "tibia vara" RELATED [GARD:0000916]
synonym: "tibia vara Blount" EXACT [Orphanet:2768]
xref: DOID:14798 {source="MONDO:equivalentTo"}
xref: GARD:0000916 {source="MONDO:equivalentTo"}
xref: ICD10:M92.5 {source="ORDO:2768/attributed", source="ORDO:2768/ntbt", source="Orphanet:2768"}
xref: ICD9:736.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10072255 {source="Orphanet:2768", source="ORDO:2768/e"}
xref: MESH:C536237 {source="MONDO:equivalentTo", source="Orphanet:2768", source="ORDO:2768/e", source="MONDO:ontobio", source="DOID:14798"}
xref: NCIT:C118460 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:2768 {source="MONDO:equivalentTo"}
xref: SCTID:79353000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.71"}
is_a: MONDO:0005516 {source="DOID:14798"} ! osteochondrodysplasia
is_a: MONDO:0019698 {source="Orphanet:2768"} ! bent bone dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220757
property_value: exactMatch DOID:14798
property_value: exactMatch http://identifiers.org/meddra/10072255
property_value: exactMatch http://identifiers.org/mesh/C536237
property_value: exactMatch http://identifiers.org/snomedct/79353000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175756
property_value: exactMatch NCIT:C118460
property_value: exactMatch Orphanet:2768
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/916/blount-disease xsd:anyURI {source="GARD:0000916"}

[Term]
id: MONDO:0017195
name: Bruck syndrome
def: "Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures." [Orphanet:2771]
subset: ordo_malformation_syndrome {source="Orphanet:2771"}
synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [DOID:0060231]
synonym: "osteogenesis imperfecta-congenital joint contractures syndrome" EXACT [Orphanet:2771]
xref: DOID:0060231 {source="MONDO:equivalentTo"}
xref: ICD10:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="ORDO:2771/ntbt", source="ORDO:2771/index"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063718 {source="Orphanet:2771", source="ORDO:2771/e"}
xref: Orphanet:2771 {source="DOID:0060231", source="MONDO:equivalentTo"}
xref: SCTID:254113006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0432253 {source="Orphanet:2771", source="ORDO:2771/e", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0060231", source="MONDOLEX:0017195"} ! syndromic disease
is_a: MONDO:0015669 {source="Orphanet:2771"} ! rare disease with dentinogenesis imperfecta
is_a: MONDO:0019704 {source="Orphanet:2771"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0060231
property_value: exactMatch http://identifiers.org/meddra/10063718
property_value: exactMatch http://identifiers.org/snomedct/254113006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432253
property_value: exactMatch Orphanet:2771

[Term]
id: MONDO:0017196
name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
def: "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." [Orphanet:2773]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2773"}
synonym: "Al Gazali Sabrinathan Nair syndrome" RELATED [GARD:0000587]
synonym: "Al Gazali-Nair syndrome" EXACT [GARD:0000587, Orphanet:2773]
synonym: "osteogenesis imperfecta retinopathy seizures intellectual deficit" RELATED [GARD:0000587]
xref: GARD:0000587 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:2773", source="ORDO:2773/attributed", source="ORDO:2773/ntbt"}
xref: MESH:C535617 {source="MONDO:equivalentTo"}
xref: Orphanet:2773 {source="GARD:0000587", source="MONDO:equivalentTo"}
xref: SCTID:722110003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:CN202641 {source="MONDO:equivalentTo"}
is_a: MONDO:0003608 {source="MESH:C535617"} ! optic atrophy
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0005283 {source="MESH:C535617", source="MONDOLEX:0017196", source="linkedlifedata"} ! retinal disease
is_a: MONDO:0005287 {source="MESH:C535617"} ! developmental disability
is_a: MONDO:0019019 {source="MESH:C535617", source="linkedlifedata"} ! osteogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930952
property_value: exactMatch http://identifiers.org/mesh/C535617
property_value: exactMatch http://identifiers.org/snomedct/722110003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202641
property_value: exactMatch Orphanet:2773
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome xsd:anyURI {source="GARD:0000587"}

[Term]
id: MONDO:0017197
name: osteopathia striata-pigmentary dermopathy-white forelock syndrome
def: "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." [Orphanet:2779]
subset: ordo_malformation_syndrome {source="Orphanet:2779"}
synonym: "osteopathia striata associated with familial dermopathy and white forelock" RELATED [GARD:0005562]
synonym: "osteopathia striata with pigmentary dermopathy including white forelock" RELATED [GARD:0005562]
synonym: "Whyte Murphy syndrome" RELATED [GARD:0005562]
synonym: "Whyte-Murphy syndrome" EXACT [Orphanet:2779]
xref: GARD:0005562 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q77.8 {source="ORDO:2779/attributed", source="ORDO:2779/ntbt", source="Orphanet:2779"}
xref: MESH:C536054 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2779 {source="MONDO:equivalentTo"}
xref: UMLS:C2931096 {source="MONDO:equivalentTo", source="Orphanet:2779", source="ORDO:2779/e", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0019289 {source="Orphanet:2779"} ! hyperpigmentation of the skin
is_a: MONDO:0019703 {source="Orphanet:2779"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/mesh/C536054
property_value: exactMatch http://identifiers.org/omim/311280
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931096
property_value: exactMatch Orphanet:2779

[Term]
id: MONDO:0017198
name: osteopetrosis (disease)
def: "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." [Orphanet:2781]
subset: ordo_group_of_disorders {source="Orphanet:2781"}
synonym: "Albers-Schoenberg disease" RELATED [GARD:0004155]
synonym: "Albers-Schonberg disease" EXACT [DOID:13533, GARD:0004155]
synonym: "marble bone" EXACT [CSP2005:1849-7232, DOID:13533]
synonym: "marble bone disease" EXACT [GARD:0004155]
synonym: "marble bones" EXACT [GARD:0004155]
synonym: "osteopetroses" RELATED [GARD:0004155]
synonym: "osteopetrosis" EXACT [MONDO:ambiguous]
synonym: "osteopetrosis and related disorders" RELATED [Orphanet:2781]
synonym: "osteosclerosis fragilis" RELATED [GARD:0004155]
xref: COHD:81403 {source="MONDO:equivalentTo"}
xref: DOID:13533 {source="MONDO:equivalentTo"}
xref: GARD:0004155 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011002 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q78.2 {source="Orphanet:2781", source="ORDO:2781/specific", source="ORDO:2781/e", source="DOID:13533"}
xref: ICD9:756.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13533"}
xref: MedDRA:10031280 {source="Orphanet:2781", source="ORDO:2781/e"}
xref: NCIT:C26840 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17", source="DOID:13533"}
xref: OMIMPS:259700 {source="DOID:13533"}
xref: Orphanet:2781 {source="MONDO:equivalentTo"}
xref: SCTID:1926006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:13533"}
is_a: MONDO:0019703 {source="Orphanet:2781"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0042973 ! familial osteosclerosis
property_value: closeMatch http://identifiers.org/snomedct/205500005
property_value: closeMatch http://identifiers.org/snomedct/205502002
property_value: closeMatch http://identifiers.org/snomedct/360504006
property_value: closeMatch http://identifiers.org/snomedct/63941000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029454
property_value: exactMatch DOID:13533
property_value: exactMatch http://identifiers.org/meddra/10031280
property_value: exactMatch http://identifiers.org/mesh/D010022
property_value: exactMatch http://identifiers.org/snomedct/1926006
property_value: exactMatch NCIT:C26840
property_value: exactMatch Orphanet:2781

[Term]
id: MONDO:0017199
name: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
def: "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." [Orphanet:2787]
subset: ordo_malformation_syndrome {source="Orphanet:2787"}
synonym: "Heide syndrome" EXACT [Orphanet:2787]
xref: Orphanet:2787 {source="MONDO:equivalentTo"}
xref: SCTID:716189005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C4274786 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN202651 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019704 {source="Orphanet:2787"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch http://identifiers.org/snomedct/716189005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202651
property_value: exactMatch Orphanet:2787

[Term]
id: MONDO:0017200
name: polycystic ovaries-urethral sphincter dysfunction syndrome
def: "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." [Orphanet:2795]
subset: ordo_disease {source="Orphanet:2795"}
synonym: "fowler Christmas Chapple syndrome" RELATED [GARD:0002365]
synonym: "fowler's syndrome" RELATED [GARD:0002365]
synonym: "fowler-Christmas-Chapple syndrome" EXACT [Orphanet:2795]
synonym: "polycystic ovaries urethral sphincter dysfunction" RELATED [GARD:0002365]
synonym: "voiding dysfunction and polycystic ovaries" RELATED [GARD:0002365]
xref: GARD:0002365 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C537271 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2795 {source="MONDO:equivalentTo"}
xref: UMLS:C2931462 {source="Orphanet:2795", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015875 {source="Orphanet:2795"} ! rare non-malformative uterine adnexal disease
property_value: exactMatch http://identifiers.org/mesh/C537271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931462
property_value: exactMatch Orphanet:2795

[Term]
id: MONDO:0017201
name: Spasmus nutans (disease)
def: "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." [Orphanet:279882]
subset: ordo_clinical_syndrome {source="Orphanet:279882"}
synonym: "Spasmus nutans" EXACT [MONDO:ambiguous]
xref: HP:0010533 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:F98.4 {source="Orphanet:279882", source="ORDO:279882/ntbt"}
xref: MedDRA:10059593 {source="Orphanet:279882", source="ORDO:279882/e"}
xref: Orphanet:279882 {source="MONDO:equivalentTo"}
xref: SCTID:400948003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1527306 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:279882", source="MONDO:equivalentTo", source="ORDO:279882/e"}
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10059593
property_value: exactMatch http://identifiers.org/snomedct/400948003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527306
property_value: exactMatch Orphanet:279882

[Term]
id: MONDO:0017202
name: acute endophthalmitis
def: "Acute form of endophthalmitis." [MONDO:patterns/acute]
subset: ordo_clinical_subtype {source="Orphanet:279888"}
synonym: "endophthalmitis, acute" EXACT [MONDO:patterns/acute]
xref: COHD:433765 {source="MONDO:equivalentTo"}
xref: DOID:11752 {source="MONDO:equivalentTo"}
xref: ICD10:H44.0 {source="MONDO:subClassOf", source="ORDO:279888/ntbt", source="Orphanet:279888"}
xref: ICD10:H44.1 {source="ORDO:279888/ntbt", source="Orphanet:279888"}
xref: ICD9:360.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:11752"}
xref: MedDRA:10000730 {source="ORDO:279888/e", source="Orphanet:279888"}
xref: Orphanet:279888 {source="MONDO:equivalentTo"}
xref: SCTID:1493002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11752"}
xref: UMLS:C0154773 {source="ORDO:279888/e", source="MONDO:equivalentTo", source="Orphanet:279888", source="DOID:11752"}
is_a: MONDO:0004863 {source="DOID:11752"} ! purulent endophthalmitis
is_a: MONDO:0020683 ! acute disease
property_value: closeMatch http://identifiers.org/snomedct/193268004
property_value: exactMatch DOID:11752
property_value: exactMatch http://identifiers.org/meddra/10000730
property_value: exactMatch http://identifiers.org/snomedct/1493002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154773
property_value: exactMatch Orphanet:279888

[Term]
id: MONDO:0017203
name: chronic endophthalmitis
def: "Chronic form of endophthalmitis." [MONDO:patterns/chronic]
subset: ordo_clinical_subtype {source="Orphanet:279891"}
synonym: "endophthalmitis, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:443867 {source="MONDO:equivalentTo"}
xref: DOID:10697 {source="MONDO:equivalentTo"}
xref: ICD10:H44.0 {source="MONDO:subClassOf", source="ORDO:279891/ntbt", source="Orphanet:279891"}
xref: ICD10:H44.1 {source="ORDO:279891/ntbt", source="Orphanet:279891"}
xref: ICD9:360.03 {source="DOID:10697", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10008864 {source="ORDO:279891/e", source="Orphanet:279891"}
xref: Orphanet:279891 {source="MONDO:equivalentTo"}
xref: SCTID:13978000 {source="DOID:10697", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0154774 {source="DOID:10697", source="MONDO:equivalentTo", source="ORDO:279891/e", source="Orphanet:279891"}
is_a: MONDO:0004863 {source="DOID:10697"} ! purulent endophthalmitis
property_value: closeMatch http://identifiers.org/snomedct/193269007
property_value: exactMatch DOID:10697
property_value: exactMatch http://identifiers.org/meddra/10008864
property_value: exactMatch http://identifiers.org/snomedct/13978000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154774
property_value: exactMatch Orphanet:279891

[Term]
id: MONDO:0017204
name: toxic maculopathy due to antimalarial drugs
def: "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." [Orphanet:279894]
subset: ordo_disease {source="Orphanet:279894"}
xref: ICD10:H35.3 {source="Orphanet:279894", source="MONDO:relatedTo", source="ORDO:279894/ntbt"}
xref: ICD10:T37.2 {source="Orphanet:279894", source="ORDO:279894/ntbt"}
xref: Orphanet:279894 {source="MONDO:equivalentTo"}
xref: SCTID:763621004 {source="MONDO:equivalentTo"}
xref: UMLS:CN202676 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/763621004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202676
property_value: exactMatch Orphanet:279894

[Term]
id: MONDO:0017205
name: primary oculocerebral lymphoma
def: "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." [Orphanet:279897]
subset: ordo_disease {source="Orphanet:279897"}
synonym: "primary oculocerebral non-Hodgkin lymphoma" EXACT [Orphanet:279897]
xref: Orphanet:279897 {source="MONDO:equivalentTo"}
is_a: MONDO:0004034 ! eye lymphoma
is_a: MONDO:0017207 {source="Orphanet:279897"} ! primary organ-specific lymphoma
property_value: exactMatch Orphanet:279897

[Term]
id: MONDO:0017207
name: primary organ-specific lymphoma
subset: ordo_group_of_disorders {source="Orphanet:279911"}
xref: NCIT:C7185 {source="MONDO:equivalentTo"}
xref: Orphanet:279911 {source="MONDO:equivalentTo"}
xref: UMLS:C1334465 {source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="Orphanet:279911"} ! lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334465
property_value: exactMatch NCIT:C7185
property_value: exactMatch Orphanet:279911

[Term]
id: MONDO:0017208
name: obsolete intermediate uveitis
is_obsolete: true
replaced_by: MONDO:0006806

[Term]
id: MONDO:0017209
name: infectious posterior uveitis
subset: ordo_disease {source="Orphanet:279919"}
xref: ICD10:H20.0 {source="ORDO:279919/ntbt", source="Orphanet:279919"}
xref: Orphanet:279919 {source="MONDO:equivalentTo"}
is_a: MONDO:0001280 {source="MONDO:Redundant", source="MONDOLEX:0017209", source="Orphanet:279919"} ! choroiditis
is_a: MONDO:0016047 ! endophthalmitis
property_value: exactMatch Orphanet:279919

[Term]
id: MONDO:0017210
name: infectious anterior uveitis
def: "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: clingen
subset: ordo_disease {source="Orphanet:279922"}
synonym: "infectious secondary iridocyclitis" EXACT [DOID:9389]
synonym: "secondary infected iridocyclitis" EXACT [DOID:9389]
synonym: "secondary iridocyclitis, infectious" EXACT [DOID:9389, ICD9CM_2006:364.03]
xref: COHD:440716 {source="MONDO:equivalentTo"}
xref: DOID:9389 {source="MONDO:equivalentTo"}
xref: ICD10:H20.0 {source="ORDO:279922/ntbt", source="Orphanet:279922"}
xref: ICD10:H20.03 {source="DOID:9389"}
xref: ICD10:H20.1 {source="ORDO:279922/ntbt", source="Orphanet:279922"}
xref: ICD10:H20.2 {source="ORDO:279922/ntbt", source="Orphanet:279922"}
xref: ICD10:H20.8 {source="ORDO:279922/ntbt", source="Orphanet:279922"}
xref: ICD10:H20.9 {source="ORDO:279922/ntbt", source="Orphanet:279922"}
xref: ICD9:364.03 {source="DOID:9389"}
xref: Orphanet:279922 {source="MONDO:equivalentTo"}
xref: SCTID:193487008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.77/0.29", source="DOID:9389"}
xref: UMLS:C0154911 {source="MONDO:equivalentTo", source="DOID:9389"}
is_a: MONDO:0004773 {source="DOID:9389", source="MONDOLEX:0017210", source="linkedlifedata", source="linkedlifedata/inferred"} ! iridocyclitis (disease)
is_a: MONDO:0016047 ! endophthalmitis
property_value: closeMatch http://identifiers.org/snomedct/89114005
property_value: exactMatch DOID:9389
property_value: exactMatch http://identifiers.org/snomedct/193487008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154911
property_value: exactMatch Orphanet:279922

[Term]
id: MONDO:0017211
name: infectious panuveitis
subset: ordo_disease {source="Orphanet:279925"}
xref: ICD10:H44.1 {source="ORDO:279925/ntbt", source="Orphanet:279925"}
xref: Orphanet:279925 {source="MONDO:equivalentTo"}
is_a: MONDO:0016047 ! endophthalmitis
is_a: MONDO:0017255 {source="MONDOLEX:0017211", source="Orphanet:279925"} ! panuveitis (disease)
property_value: exactMatch Orphanet:279925

[Term]
id: MONDO:0017212
name: paraneoplastic uveitis
subset: ordo_disease {source="Orphanet:279928"}
xref: Orphanet:279928 {source="MONDO:equivalentTo"}
is_a: MONDO:0019541 {source="MONDO:Redundant", source="Orphanet:279928"} ! non-infectious posterior uveitis
is_a: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: MONDO:0019541 ! non-infectious posterior uveitis
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
property_value: exactMatch Orphanet:279928

[Term]
id: MONDO:0017213
name: postorgasmic illness syndrome
def: "Postorgasmic illness syndrome (POIS) is a rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs , antihistamines , and/or benzodiazepines . Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." [https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome]
subset: gard_rare {source="GARD:0010809"}
subset: ordo_clinical_syndrome {source="Orphanet:279947"}
synonym: "POIS" EXACT [Orphanet:279947]
synonym: "post orgasmic sick syndrome" RELATED [GARD:0010809]
xref: GARD:0010809 {source="MONDO:equivalentTo"}
xref: Orphanet:279947 {source="MONDO:equivalentTo"}
xref: UMLS:CN202682 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015938 ! systemic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015106"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202682
property_value: exactMatch Orphanet:279947
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome xsd:anyURI {source="GARD:0010809"}

[Term]
id: MONDO:0017214
name: vitamin B12-responsive methylmalonic acidemia
def: "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." [Orphanet:28]
subset: gard_rare {source="GARD:0012623"}
subset: ordo_disease {source="Orphanet:28"}
synonym: "adenosylcobalamin deficiency" EXACT [Orphanet:28]
synonym: "vitamin B12-responsive methylmalonic aciduria" EXACT [Orphanet:28]
xref: GARD:0012623 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:28/ntbt", source="Orphanet:28", source="ORDO:28/inclusion"}
xref: Orphanet:28 {source="MONDO:equivalentTo"}
xref: SCTID:69614003 {source="MONDO:kboom-pr-1.00/0.79/8.57", source="MONDO:equivalentTo"}
is_a: MONDO:0017390 {source="Orphanet:28"} ! methylmalonic acidemia without homocystinuria
is_a: MONDO:0019220 {source="Orphanet:28"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0019743 {source="Orphanet:28"} ! nephropathy secondary to a storage or other metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/69614003
property_value: exactMatch Orphanet:28
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia xsd:anyURI {source="GARD:0012623"}

[Term]
id: MONDO:0017215
name: calciphylaxis
def: "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow ( ischemia ) damages healthy tissue and causes itto die ( necrosis ). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle , causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body ( sepsis ), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." [GARD:0005980]
subset: gard_rare {source="GARD:0005980"}
subset: ordo_disease {source="Orphanet:280062"}
synonym: "idiopathic calciphylaxis" RELATED [GARD:0005980]
xref: DOID:4734 {source="MONDO:equivalentTo"}
xref: GARD:0005980 {source="MONDO:equivalentTo"}
xref: ICD10:E83.5 {source="Orphanet:280062", source="ORDO:280062/ntbt"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051714 {source="ORDO:280062/e", source="Orphanet:280062"}
xref: MESH:D002115 {source="DOID:4734", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84607 {source="DOID:4734", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:280062 {source="MONDO:equivalentTo"}
xref: SCTID:237900002 {source="DOID:4734", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0006666 {source="ORDO:280062/e", source="Orphanet:280062", source="DOID:4734", source="MONDO:equivalentTo", source="NCIT:C84607"}
is_a: MONDO:0002123 {source="DOID:4734", source="MESH:D002115"} ! calcinosis
is_a: MONDO:0002254 {source="NCIT:C84607"} ! syndromic disease
is_a: MONDO:0005385 {source="Orphanet:280062", source="Orphanet:280062/inferred"} ! vascular disease
is_a: MONDO:0015938 {source="Orphanet:280062"} ! systemic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019048"} ! rare
property_value: exactMatch DOID:4734
property_value: exactMatch http://identifiers.org/meddra/10051714
property_value: exactMatch http://identifiers.org/mesh/D002115
property_value: exactMatch http://identifiers.org/snomedct/237900002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006666
property_value: exactMatch NCIT:C84607
property_value: exactMatch Orphanet:280062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis xsd:anyURI {source="GARD:0005980"}

[Term]
id: MONDO:0017216
name: calciphylaxis cutis
def: "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." [Orphanet:280065]
subset: ordo_clinical_subtype {source="Orphanet:280065"}
xref: ICD10:E83.5 {source="ORDO:280065/ntbt", source="Orphanet:280065"}
xref: Orphanet:280065 {source="MONDO:equivalentTo"}
xref: SCTID:717043006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4274083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017215 {source="Orphanet:280065", source="linkedlifedata"} ! calciphylaxis
is_a: MONDO:0019293 {source="Orphanet:280065"} ! skin vascular disease
property_value: exactMatch http://identifiers.org/snomedct/717043006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274083
property_value: exactMatch Orphanet:280065

[Term]
id: MONDO:0017217
name: visceral calciphylaxis
def: "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." [Orphanet:280068]
subset: ordo_clinical_subtype {source="Orphanet:280068"}
xref: ICD10:E83.5 {source="ORDO:280068/ntbt", source="Orphanet:280068"}
xref: Orphanet:280068 {source="MONDO:equivalentTo"}
is_a: MONDO:0017215 {source="Orphanet:280068"} ! calciphylaxis
property_value: exactMatch Orphanet:280068

[Term]
id: MONDO:0017218
name: septopreoptic holoprosencephaly
def: "Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." [Orphanet:280195]
subset: ordo_clinical_subtype {source="Orphanet:280195"}
synonym: "Septopreoptic HPE" EXACT [Orphanet:280195]
xref: ICD10:Q04.2 {source="MONDO:subClassOf", source="Orphanet:280195", source="ORDO:280195/attributed", source="ORDO:280195/ntbt"}
xref: Orphanet:280195 {source="MONDO:equivalentTo"}
xref: UMLS:CN202699 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016296 {source="Orphanet:280195", source="Orphanet:280195/inferred"} ! holoprosencephaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202699
property_value: exactMatch Orphanet:280195

[Term]
id: MONDO:0017219
name: microform holoprosencephaly
def: "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." [Orphanet:280200]
subset: ordo_malformation_syndrome {source="Orphanet:280200"}
synonym: "HoloprosencC)phalie, minor form" EXACT [Orphanet:280200]
synonym: "holoprosencephaly-like" EXACT [Orphanet:280200]
synonym: "Holoprosencéphalie, minor form" EXACT [Orphanet:280200]
synonym: "HPE, minor form" EXACT [Orphanet:280200]
synonym: "HPE-L" EXACT [Orphanet:280200]
synonym: "Microform HPE" EXACT [Orphanet:280200]
xref: ICD10:Q04.2 {source="ORDO:280200/attributed", source="ORDO:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"}
xref: Orphanet:280200 {source="MONDO:equivalentTo"}
xref: UMLS:CN202701 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN236719 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0017090 {source="Orphanet:280200", source="Orphanet:280200/inferred"} ! midline cerebral malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236719
property_value: exactMatch Orphanet:280200

[Term]
id: MONDO:0017220
name: laryngotracheoesophageal cleft type 0
def: "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." [Orphanet:280205]
subset: ordo_clinical_subtype {source="Orphanet:280205"}
synonym: "laryngo-tracheo-esophageal cleft type 0" EXACT [Orphanet:280205]
synonym: "LTEC0" EXACT [Orphanet:280205]
xref: ICD10:Q32.1 {source="ORDO:280205/ntbt", source="Orphanet:280205"}
xref: Orphanet:280205 {source="MONDO:equivalentTo"}
xref: UMLS:CN202702 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016060 {source="Orphanet:280205"} ! laryngotracheoesophageal cleft
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202702
property_value: exactMatch Orphanet:280205

[Term]
id: MONDO:0017221
name: Pelizaeus-Merzbacher disease, connatal form
def: "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." [Orphanet:280210]
subset: ordo_clinical_subtype {source="Orphanet:280210"}
synonym: "connatal PMD" EXACT [Orphanet:280210]
synonym: "Pelizaeus-Merzbacher disease type II" EXACT [Orphanet:280210]
synonym: "severe PMD" EXACT [Orphanet:280210]
xref: ICD10:E75.2 {source="ORDO:280210/attributed", source="ORDO:280210/ntbt", source="Orphanet:280210"}
xref: Orphanet:280210 {source="MONDO:equivalentTo"}
xref: UMLS:CN202703 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010714 {source="MONDOLEX:0017221", source="Orphanet:280210"} ! Pelizaeus-Merzbacher disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202703
property_value: exactMatch Orphanet:280210

[Term]
id: MONDO:0017222
name: Pelizaeus-Merzbacher disease, classic form
def: "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." [Orphanet:280219]
subset: ordo_clinical_subtype {source="Orphanet:280219"}
synonym: "classic PMD" EXACT [Orphanet:280219]
xref: ICD10:E75.2 {source="Orphanet:280219", source="ORDO:280219/attributed", source="ORDO:280219/ntbt"}
xref: Orphanet:280219 {source="MONDO:equivalentTo"}
xref: SCTID:87607002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0010714 {source="MONDOLEX:0017222", source="Orphanet:280219", source="linkedlifedata"} ! Pelizaeus-Merzbacher disease
property_value: exactMatch http://identifiers.org/snomedct/87607002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751916
property_value: exactMatch Orphanet:280219

[Term]
id: MONDO:0017223
name: Pelizaeus-Merzbacher disease, transitional form
def: "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." [Orphanet:280224]
subset: ordo_clinical_subtype {source="Orphanet:280224"}
synonym: "transitional PMD" EXACT [Orphanet:280224]
xref: ICD10:E75.2 {source="ORDO:280224/attributed", source="ORDO:280224/ntbt", source="Orphanet:280224"}
xref: Orphanet:280224 {source="MONDO:equivalentTo"}
is_a: MONDO:0010714 {source="MONDOLEX:0017223", source="Orphanet:280224"} ! Pelizaeus-Merzbacher disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751917
property_value: exactMatch Orphanet:280224

[Term]
id: MONDO:0017224
name: Pelizaeus-Merzbacher disease in female carriers
def: "gene (Xq22)." [Orphanet:280229]
subset: ordo_clinical_subtype {source="Orphanet:280229"}
xref: ICD10:E75.2 {source="Orphanet:280229", source="ORDO:280229/attributed", source="ORDO:280229/ntbt"}
xref: Orphanet:280229 {source="MONDO:equivalentTo"}
xref: UMLS:CN202706 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010714 {source="MONDOLEX:0017224", source="Orphanet:280229"} ! Pelizaeus-Merzbacher disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202706
property_value: exactMatch Orphanet:280229

[Term]
id: MONDO:0017225
name: null syndrome
def: "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." [Orphanet:280234]
subset: ordo_clinical_subtype {source="Orphanet:280234"}
synonym: "Pelizaeus-Merzbacher disease, null syndrome" EXACT [Orphanet:280234]
synonym: "PLP1 null syndrome" EXACT [Orphanet:280234]
xref: ICD10:E75.2 {source="ORDO:280234/attributed", source="ORDO:280234/ntbt", source="Orphanet:280234"}
xref: Orphanet:280234 {source="MONDO:equivalentTo"}
xref: UMLS:CN202707 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010714 {source="MONDOLEX:0017225", source="Orphanet:280234"} ! Pelizaeus-Merzbacher disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202707
property_value: exactMatch Orphanet:280234

[Term]
id: MONDO:0017226
name: Pelizaeus-Merzbacher-like disease
def: "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." [Orphanet:280270]
subset: gard_rare {source="GARD:0012300"}
subset: ordo_disease {source="Orphanet:280270"}
synonym: "PMLD" EXACT [Orphanet:280270]
xref: GARD:0012300 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:280270", source="ORDO:280270/attributed", source="ORDO:280270/ntbt"}
xref: Orphanet:280270 {source="MONDO:equivalentTo"}
xref: SCTID:717042001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019046 {source="Orphanet:280270", source="linkedlifedata"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/snomedct/717042001
property_value: exactMatch Orphanet:280270
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease xsd:anyURI {source="GARD:0012300"}

[Term]
id: MONDO:0017227
name: autoimmune pancreatitis type 1
def: "60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." [Orphanet:280302]
subset: ordo_clinical_subtype {source="Orphanet:280302"}
synonym: "AIP type 1" EXACT [Orphanet:280302]
synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623]
synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302]
synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302]
xref: EFO:1000780 {source="MONDO:equivalentTo"}
xref: ICD10:K86.1 {source="Orphanet:280302", source="ORDO:280302/ntbt"}
xref: Orphanet:280302 {source="MONDO:equivalentTo"}
xref: PMID:25985088 {source="EFO:1000780"}
xref: SCTID:722872000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4302243 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN202712 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005003 {source="EFO:1000780"} ! chronic pancreatitis
is_a: MONDO:0015175 {source="MONDOLEX:0017227", source="Orphanet:280302", source="linkedlifedata"} ! autoimmune pancreatitis
property_value: exactMatch http://identifiers.org/snomedct/722872000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202712
property_value: exactMatch Orphanet:280302

[Term]
id: MONDO:0017228
name: autoimmune pancreatitis type 2
def: "60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." [Orphanet:280315]
subset: ordo_clinical_subtype {source="Orphanet:280315"}
synonym: "AIP type 2" EXACT [Orphanet:280315]
synonym: "duct-centric pancreatitis" EXACT [Orphanet:280315]
xref: ICD10:K86.1 {source="ORDO:280315/ntbt", source="Orphanet:280315"}
xref: Orphanet:280315 {source="MONDO:equivalentTo"}
xref: UMLS:CN202713 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015175 {source="MONDOLEX:0017228", source="Orphanet:280315"} ! autoimmune pancreatitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202713
property_value: exactMatch Orphanet:280315

[Term]
id: MONDO:0017229
name: distal monosomy 12p
def: "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." [Orphanet:280325]
subset: ordo_malformation_syndrome {source="Orphanet:280325"}
synonym: "12p13.33 microdeletion syndrome" EXACT [Orphanet:280325]
synonym: "Del(12)(p13.33)" EXACT [Orphanet:280325]
synonym: "distal deletion 12p" EXACT [Orphanet:280325]
synonym: "distal monosomy type 12p" EXACT [MONDORULE:4, Orphanet:280325]
xref: ICD10:Q93.5 {source="ORDO:280325/attributed", source="ORDO:280325/ntbt", source="Orphanet:280325"}
xref: Orphanet:280325 {source="MONDO:equivalentTo"}
xref: UMLS:CN202714 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017848 {source="Orphanet:280325"} ! partial deletion of the short arm of chromosome 12
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202714
property_value: exactMatch Orphanet:280325

[Term]
id: MONDO:0017230
name: autosomal semi-dominant severe lipodystrophic laminopathy
subset: ordo_disease {source="Orphanet:280365"}
xref: ICD10:E88.1 {source="ORDO:280365/attributed", source="ORDO:280365/ntbt", source="Orphanet:280365"}
xref: Orphanet:280365 {source="MONDO:equivalentTo"}
xref: UMLS:CN202719 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:280365"} ! rare insulin-resistance syndrome
is_a: MONDO:0020088 {source="Orphanet:280365"} ! familial partial lipodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202719
property_value: exactMatch Orphanet:280365

[Term]
id: MONDO:0017231
name: erythropoietic uroporphyria associated with myeloid malignancy
subset: gard_rare {source="GARD:0010948"}
subset: ordo_disease {source="Orphanet:280379"}
xref: GARD:0010948 {source="MONDO:equivalentTo"}
xref: ICD10:E80.2 {source="Orphanet:280379", source="ORDO:280379/attributed", source="ORDO:280379/ntbt"}
xref: Orphanet:280379 {source="MONDO:equivalentTo"}
is_a: MONDO:0019142 {source="MONDOLEX:0017231", source="Orphanet:280379"} ! inherited porphyria
property_value: exactMatch Orphanet:280379
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy xsd:anyURI {source="GARD:0010948"}

[Term]
id: MONDO:0017232
name: recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
def: "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." [Orphanet:280384]
subset: ordo_disease {source="Orphanet:280384"}
synonym: "IDMDC" EXACT [Orphanet:280384]
xref: Orphanet:280384 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:280384"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch Orphanet:280384

[Term]
id: MONDO:0017233
name: familial Alzheimer-like prion disease
subset: ordo_disease {source="Orphanet:280397"}
xref: ICD10:A81.8 {source="ORDO:280397/ntbt", source="Orphanet:280397"}
xref: Orphanet:280397 {source="MONDO:equivalentTo"}
xref: SCTID:721219005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4303482 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017234 {source="Orphanet:280397"} ! inherited prion disease
property_value: exactMatch http://identifiers.org/snomedct/721219005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303482
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202723
property_value: exactMatch Orphanet:280397

[Term]
id: MONDO:0017234
name: inherited prion disease
def: "An instance of prion disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:280400"}
synonym: "familial prion disease" EXACT [Orphanet:280400]
synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary]
xref: ICD10:A81.8 {source="ORDO:280400/attributed", source="ORDO:280400/ntbt", source="Orphanet:280400"}
xref: Orphanet:280400 {source="MONDO:equivalentTo"}
xref: UMLS:CN202725 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005429 ! prion disease
is_a: MONDO:0018926 {source="Orphanet:280400"} ! human prion disease
is_a: MONDO:0020141 ! infectious disease with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:280400"} ! genetic neurodegenerative disease with dementia
intersection_of: MONDO:0005429 ! prion disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202725
property_value: exactMatch Orphanet:280400

[Term]
id: MONDO:0017235
name: familial omphalocele syndrome with facial dysmorphism
def: "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands." [Orphanet:280403]
subset: ordo_malformation_syndrome {source="Orphanet:280403"}
xref: Orphanet:280403 {source="MONDO:equivalentTo"}
xref: UMLS:CN202726 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015216 {source="Orphanet:280403"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202726
property_value: exactMatch Orphanet:280403

[Term]
id: MONDO:0017236
name: rapidly progressive glomerulonephritis
def: "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." [NCIT:P378]
subset: ordo_disease {source="Orphanet:280569"}
synonym: "crescentic glomerulonephritis" EXACT [Orphanet:280569]
synonym: "RPGN" EXACT [Orphanet:280569]
xref: COHD:196464 {source="MONDO:equivalentTo"}
xref: DOID:4776 {source="MONDO:equivalentTo"}
xref: ICD10:N01 {source="Orphanet:280569", source="DOID:4776", source="ORDO:280569/inclusion", source="ORDO:280569/ntbt"}
xref: ICD9:580.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:582.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:583.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10018378 {source="Orphanet:280569", source="ORDO:280569/e"}
xref: NCIT:C35264 {source="MONDO:kboom-pr-0.94/0.87/0.19", source="DOID:4776", source="MONDO:equivalentTo"}
xref: Orphanet:280569 {source="MONDO:equivalentTo"}
xref: SCTID:236392004 {source="DOID:4776", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.83"}
xref: UMLS:C0221239 {source="Orphanet:280569", source="DOID:4776", source="NCIT:C35264", source="MONDO:equivalentTo", source="ORDO:280569/e"}
is_a: MONDO:0002462 {source="DOID:4776", source="MONDOLEX:0017236", source="NCIT:C35264"} ! glomerulonephritis (disease)
is_a: MONDO:0015163 {source="Orphanet:280569"} ! primary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/45406000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403416
property_value: exactMatch DOID:4776
property_value: exactMatch http://identifiers.org/meddra/10018378
property_value: exactMatch http://identifiers.org/snomedct/236392004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221239
property_value: exactMatch NCIT:C35264
property_value: exactMatch Orphanet:280569

[Term]
id: MONDO:0017237
name: hereditary sensorimotor neuropathy with hyperelastic skin
subset: gard_rare {source="GARD:0011010"}
subset: ordo_disease {source="Orphanet:280598"}
xref: GARD:0011010 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:280598/attributed", source="ORDO:280598/ntbt", source="Orphanet:280598"}
xref: Orphanet:280598 {source="MONDO:equivalentTo"}
xref: UMLS:CN202738 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015359 {source="Orphanet:280598"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202738
property_value: exactMatch Orphanet:280598
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin xsd:anyURI {source="GARD:0011010"}

[Term]
id: MONDO:0017238
name: hemoglobinopathy Toms River
subset: ordo_disease {source="Orphanet:280615"}
synonym: "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" EXACT [Orphanet:280615]
xref: ICD10:D58.2 {source="Orphanet:280615", source="ORDO:280615/attributed", source="ORDO:280615/ntbt"}
xref: Orphanet:280615 {source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:280615", source="Orphanet:280615/inferred"} ! anemia (disease)
is_a: MONDO:0013511 {source="MONDO:cjm"} ! cyanosis, transient neonatal
is_a: MONDO:0019050 {source="Orphanet:280615"} ! inherited hemoglobinopathy
property_value: exactMatch Orphanet:280615

[Term]
id: MONDO:0017239
name: familial progressive hyper- and hypopigmentation
def: "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." [Orphanet:280628]
subset: ordo_disease {source="Orphanet:280628"}
synonym: "FPHH" EXACT [Orphanet:280628]
xref: ICD10:L81.8 {source="Orphanet:280628", source="ORDO:280628/attributed", source="ORDO:280628/ntbt"}
xref: Orphanet:280628 {source="MONDO:equivalentTo"}
is_a: MONDO:0007771 {source="MONDOLEX:0017239"} ! hyperpigmentation with or without hypopigmentation, familial progressive
property_value: exactMatch Orphanet:280628

[Term]
id: MONDO:0017240
name: acrodysostosis with multiple hormone resistance
subset: ordo_disease {source="Orphanet:280651"}
xref: ICD10:Q75.4 {source="ORDO:280651/attributed", source="ORDO:280651/ntbt", source="Orphanet:280651"}
xref: Orphanet:280651 {source="MONDO:equivalentTo"}
xref: UMLS:CN202748 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015126 {source="Orphanet:280651"} ! polyendocrinopathy
is_a: MONDO:0015483 {source="Orphanet:280651"} ! mandibulofacial dysostosis
is_a: MONDO:0018237 {source="Orphanet:280651"} ! acrofacial dysostosis
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202748
property_value: exactMatch Orphanet:280651

[Term]
id: MONDO:0017241
name: severe intellectual disability and progressive spastic paraplegia
subset: ordo_disease {source="Orphanet:280763"}
synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763]
xref: Orphanet:280763 {source="MONDO:equivalentTo"}
xref: UMLS:CN202757 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:280763"} ! syndromic intellectual disability
is_a: MONDO:0015089 {source="Orphanet:280763"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202757
property_value: exactMatch Orphanet:280763

[Term]
id: MONDO:0017242
name: cutaneous collagenous vasculopathy
def: "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." [Orphanet:280779]
subset: ordo_disease {source="Orphanet:280779"}
synonym: "CCV" EXACT [Orphanet:280779]
synonym: "cutaneus colagenous vasculopathy" RELATED [GARD:0012428]
xref: GARD:0012428 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:280779 {source="MONDO:equivalentTo"}
xref: SCTID:718634003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4305323 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019293 {source="Orphanet:280779", source="linkedlifedata/inferred"} ! skin vascular disease
property_value: exactMatch http://identifiers.org/snomedct/718634003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305323
property_value: exactMatch Orphanet:280779

[Term]
id: MONDO:0017243
name: bullous diffuse cutaneous mastocytosis
def: "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." [Orphanet:280785]
subset: ordo_clinical_subtype {source="Orphanet:280785"}
synonym: "bullous DCM" EXACT [Orphanet:280785]
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:280785/ntbt", source="Orphanet:280785"}
xref: Orphanet:280785 {source="MONDO:equivalentTo"}
is_a: MONDO:0019315 {source="MONDOLEX:0017243", source="Orphanet:280785"} ! diffuse cutaneous mastocytosis
property_value: exactMatch Orphanet:280785

[Term]
id: MONDO:0017244
name: pseudoxanthomatous diffuse cutaneous mastocytosis
def: "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." [Orphanet:280794]
subset: ordo_clinical_subtype {source="Orphanet:280794"}
synonym: "infiltrative small vesicular DCM" EXACT [Orphanet:280794]
synonym: "infiltrative small vesicular diffuse cutaneous mastocytosis" EXACT [Orphanet:280794]
synonym: "Pseudoxanthomatous DCM" EXACT [Orphanet:280794]
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:280794/ntbt", source="Orphanet:280794"}
xref: Orphanet:280794 {source="MONDO:equivalentTo"}
is_a: MONDO:0019315 {source="MONDOLEX:0017244", source="Orphanet:280794"} ! diffuse cutaneous mastocytosis
property_value: exactMatch Orphanet:280794

[Term]
id: MONDO:0017245
name: intralobar congenital pulmonary sequestration
subset: ordo_clinical_subtype {source="Orphanet:280802"}
synonym: "congenital intrapulmonary sequestration" EXACT [Orphanet:280802]
synonym: "intralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280802]
xref: ICD10:Q33.2 {source="Orphanet:280802", source="ORDO:280802/ntbt"}
xref: Orphanet:280802 {source="MONDO:equivalentTo"}
is_a: MONDO:0017843 {source="Orphanet:280802"} ! congenital pulmonary sequestration
property_value: exactMatch Orphanet:280802

[Term]
id: MONDO:0017246
name: extralobar congenital pulmonary sequestration
subset: ordo_clinical_subtype {source="Orphanet:280811"}
synonym: "congenital extrapulmonary sequestration" EXACT [Orphanet:280811]
synonym: "extralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280811]
xref: ICD10:Q33.2 {source="Orphanet:280811", source="ORDO:280811/ntbt"}
xref: Orphanet:280811 {source="MONDO:equivalentTo"}
is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestration
property_value: exactMatch Orphanet:280811

[Term]
id: MONDO:0017247
name: communicating congenital bronchopulmonary-foregut malformation
subset: ordo_clinical_subtype {source="Orphanet:280821"}
xref: ICD10:Q33.2 {source="ORDO:280821/ntbt", source="Orphanet:280821"}
xref: Orphanet:280821 {source="MONDO:equivalentTo"}
is_a: MONDO:0017843 {source="Orphanet:280821"} ! congenital pulmonary sequestration
property_value: exactMatch Orphanet:280821

[Term]
id: MONDO:0017248
name: congenital pulmonary airway malformation type 0
subset: ordo_clinical_subtype {source="Orphanet:280827"}
synonym: "congenital cystic adenomatoid malformation of the lung type 0" EXACT [Orphanet:280827]
synonym: "congenital cystic adenomatous malformation of the lung type 0" EXACT [Orphanet:280827]
synonym: "CPAM type 0" EXACT [Orphanet:280827]
xref: ICD10:Q33.0 {source="Orphanet:280827", source="ORDO:280827/ntbt"}
xref: Orphanet:280827 {source="MONDO:equivalentTo"}
is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway malformation
property_value: exactMatch Orphanet:280827

[Term]
id: MONDO:0017249
name: congenital pulmonary airway malformation type 1
subset: ordo_clinical_subtype {source="Orphanet:280832"}
synonym: "CCAM type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic adenomatoid malformation of the lung type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic adenomatous malformation of the lung type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic disease of the lung type 1" EXACT [Orphanet:280832]
synonym: "CPAM type 1" EXACT [Orphanet:280832]
xref: ICD10:Q33.0 {source="ORDO:280832/ntbt", source="Orphanet:280832"}
xref: Orphanet:280832 {source="MONDO:equivalentTo"}
is_a: MONDO:0016580 {source="Orphanet:280832"} ! congenital pulmonary airway malformation
property_value: exactMatch Orphanet:280832

[Term]
id: MONDO:0017250
name: congenital pulmonary airway malformation type 2
subset: ordo_clinical_subtype {source="Orphanet:280840"}
synonym: "CCAM type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic adenomatoid malformation of the lung type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic adenomatous malformation of the lung type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic disease of the lung type 2" EXACT [Orphanet:280840]
synonym: "CPAM type 2" EXACT [Orphanet:280840]
xref: ICD10:Q33.0 {source="ORDO:280840/ntbt", source="Orphanet:280840"}
xref: Orphanet:280840 {source="MONDO:equivalentTo"}
is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway malformation
property_value: exactMatch Orphanet:280840

[Term]
id: MONDO:0017251
name: congenital pulmonary airway malformation type 3
subset: ordo_clinical_subtype {source="Orphanet:280847"}
synonym: "CCAM type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic adenomatoid malformation of the lung type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic adenomatous malformation of the lung type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic disease of the lung type 3" EXACT [Orphanet:280847]
synonym: "CPAM type 3" EXACT [Orphanet:280847]
xref: ICD10:Q33.0 {source="Orphanet:280847", source="ORDO:280847/ntbt"}
xref: Orphanet:280847 {source="MONDO:equivalentTo"}
is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway malformation
property_value: exactMatch Orphanet:280847

[Term]
id: MONDO:0017252
name: congenital pulmonary airway malformation type 4
subset: ordo_clinical_subtype {source="Orphanet:280854"}
synonym: "congenital cystic adenomatoid malformation of the lung type 4" EXACT [Orphanet:280854]
synonym: "congenital cystic adenomatous malformation of the lung type 4" EXACT [Orphanet:280854]
synonym: "CPAM type 4" EXACT [Orphanet:280854]
xref: ICD10:Q33.0 {source="ORDO:280854/ntbt", source="Orphanet:280854"}
xref: Orphanet:280854 {source="MONDO:equivalentTo"}
is_a: MONDO:0016580 {source="Orphanet:280854"} ! congenital pulmonary airway malformation
property_value: exactMatch Orphanet:280854

[Term]
id: MONDO:0017253
name: obsolete anterior uveitis
is_obsolete: true
replaced_by: MONDO:0006651

[Term]
id: MONDO:0017254
name: obsolete posterior uveitis (disease)
is_obsolete: true
replaced_by: MONDO:0001280

[Term]
id: MONDO:0017255
name: panuveitis (disease)
alt_id: MONDO:0006885
def: "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." [NCIT:C84989]
subset: ordo_group_of_disorders {source="Orphanet:280898"}
synonym: "diffuse uveitis" EXACT [DOID:12030]
synonym: "panuveitis" EXACT [MONDO:ambiguous]
synonym: "total uveitis" EXACT [Orphanet:280898]
xref: COHD:439014 {source="MONDO:equivalentTo"}
xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"}
xref: EFO:1001082 {source="MONDO:equivalentTo"}
xref: GARD:0008577 {source="MONDO:equivalentTo"}
xref: HP:0012121 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H44.1 {source="ORDO:280898/ntbt", source="Orphanet:280898"}
xref: ICD10:H44.11 {source="DOID:12030"}
xref: ICD9:360.12 {source="DOID:12030", source="MONDO:equivalentTo", source="i2s", source="MONDO:directSiblingOf"}
xref: MedDRA:10033687 {source="EFO:1001082", source="Orphanet:280898", source="ORDO:280898/e"}
xref: MESH:D015864 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"}
xref: NCIT:C84989 {source="DOID:12030", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="EFO:1001082"}
xref: Orphanet:280898 {source="MONDO:equivalentTo"}
xref: SCTID:75614007 {source="MONDO:kboom-pr-0.88/0.76/0.05", source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082", source="MONDO:directSiblingOf"}
is_a: MONDO:0020283 {source="DOID:12030", source="EFO:1001082", source="MESH:D015864", source="NCIT:C84989", source="Orphanet:280898", source="linkedlifedata"} ! uveitis (disease)
property_value: exactMatch DOID:12030
property_value: exactMatch http://identifiers.org/meddra/10033687
property_value: exactMatch http://identifiers.org/mesh/D015864
property_value: exactMatch http://identifiers.org/snomedct/75614007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030343
property_value: exactMatch NCIT:C84989
property_value: exactMatch Orphanet:280898

[Term]
id: MONDO:0017256
name: idiopathic anterior uveitis
subset: ordo_disease {source="Orphanet:280914"}
xref: ICD10:H20.0 {source="Orphanet:280914", source="ORDO:280914/ntbt"}
xref: ICD10:H20.1 {source="Orphanet:280914", source="ORDO:280914/ntbt"}
xref: ICD10:H20.2 {source="Orphanet:280914", source="ORDO:280914/ntbt"}
xref: ICD10:H20.8 {source="Orphanet:280914", source="ORDO:280914/ntbt"}
xref: ICD10:H20.9 {source="Orphanet:280914", source="ORDO:280914/ntbt"}
xref: Orphanet:280914 {source="MONDO:equivalentTo"}
xref: SCTID:231947004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.03"}
xref: UMLS:C0339315 {source="ORDO:280914/e", source="Orphanet:280914", source="MONDO:equivalentTo"}
is_a: MONDO:0006651 {source="MONDOLEX:0017256", source="Orphanet:280914", source="linkedlifedata"} ! anterior uveitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/231947004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339315
property_value: exactMatch Orphanet:280914

[Term]
id: MONDO:0017257
name: idiopathic posterior uveitis
def: "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." [Orphanet:280917]
subset: ordo_disease {source="Orphanet:280917"}
xref: ICD10:H20.0 {source="ORDO:280917/ntbt", source="Orphanet:280917"}
xref: Orphanet:280917 {source="MONDO:equivalentTo"}
is_a: MONDO:0019541 {source="Orphanet:280917"} ! non-infectious posterior uveitis
property_value: exactMatch Orphanet:280917

[Term]
id: MONDO:0017258
name: idiopathic panuveitis
def: "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." [Orphanet:280921]
subset: ordo_disease {source="Orphanet:280921"}
xref: ICD10:H44.1 {source="Orphanet:280921", source="ORDO:280921/ntbt"}
xref: Orphanet:280921 {source="MONDO:equivalentTo"}
xref: SCTID:766933000 {source="MONDO:equivalentTo"}
is_a: MONDO:0017255 {source="MONDOLEX:0017258", source="Orphanet:280921"} ! panuveitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/766933000
property_value: exactMatch Orphanet:280921

[Term]
id: MONDO:0017259
name: systemic diseases with anterior uveitis
subset: ordo_group_of_disorders {source="Orphanet:280926"}
xref: Orphanet:280926 {source="MONDO:equivalentTo"}
xref: UMLS:CN202777 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 ! systemic disease
intersection_of: MONDO:0015938 ! systemic disease
intersection_of: disease_has_feature MONDO:0006651 ! anterior uveitis (disease)
relationship: disease_has_feature MONDO:0006651 ! anterior uveitis (disease)
relationship: excluded_subClassOf MONDO:0006651 {source="MONDOLEX:0017259", source="Orphanet:280926"} ! anterior uveitis (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202777
property_value: exactMatch Orphanet:280926

[Term]
id: MONDO:0017260
name: systemic diseases with posterior uveitis
subset: ordo_group_of_disorders {source="Orphanet:280930"}
xref: Orphanet:280930 {source="MONDO:equivalentTo"}
xref: UMLS:CN202778 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 ! systemic disease
intersection_of: MONDO:0015938 ! systemic disease
intersection_of: disease_has_feature MONDO:0001280 ! choroiditis
relationship: disease_has_feature MONDO:0001280 ! choroiditis
relationship: excluded_subClassOf MONDO:0001280 {source="MONDOLEX:0017260", source="Orphanet:280930"} ! choroiditis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202778
property_value: exactMatch Orphanet:280930

[Term]
id: MONDO:0017261
name: systemic diseases with panuveitis
subset: ordo_group_of_disorders {source="Orphanet:280933"}
xref: Orphanet:280933 {source="MONDO:equivalentTo"}
xref: UMLS:CN202779 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 ! systemic disease
intersection_of: MONDO:0015938 ! systemic disease
intersection_of: disease_has_feature MONDO:0017255 ! panuveitis (disease)
relationship: disease_has_feature MONDO:0017255 ! panuveitis (disease)
relationship: excluded_subClassOf MONDO:0017255 {source="MONDOLEX:0017261", source="Orphanet:280933"} ! panuveitis (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202779
property_value: exactMatch Orphanet:280933

[Term]
id: MONDO:0017262
name: inherited non-syndromic ichthyosis
def: "A inherited ichthyosis that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:281082"}
synonym: "isolated inherited ichthyosis" EXACT []
synonym: "nonsyndromic inherited ichthyosis" EXACT [MONDO:patterns/isolated]
xref: Orphanet:281082 {source="MONDO:equivalentTo"}
is_a: MONDO:0015947 {source="MONDO:Redundant", source="Orphanet:281082"} ! inherited ichthyosis
intersection_of: MONDO:0015947 ! inherited ichthyosis
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:281082

[Term]
id: MONDO:0017263
name: inherited ichthyosis syndromic form
def: "A inherited ichthyosis that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:281085"}
synonym: "syndrome associated with inherited ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with inherited ichthyosis" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic inherited ichthyosis" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:281085 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015947 {source="MONDO:Redundant", source="MONDOLEX:0017263", source="Orphanet:281085"} ! inherited ichthyosis
intersection_of: MONDO:0015947 ! inherited ichthyosis
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch Orphanet:281085

[Term]
id: MONDO:0017264
name: syndromic recessive X-linked ichthyosis
def: "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." [Orphanet:281090]
subset: ordo_disease {source="Orphanet:281090"}
synonym: "recessive X-linked ichthyosis with extracutaneous manifestations" EXACT [Orphanet:281090]
synonym: "syndrome associated with recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with recessive X-linked ichthyosis" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic RXLI" EXACT [Orphanet:281090]
synonym: "syndromic X-linked ichthyosis" EXACT [Orphanet:281090]
xref: ICD10:Q80.1 {source="ORDO:281090/attributed", source="ORDO:281090/ntbt", source="Orphanet:281090"}
xref: Orphanet:281090 {source="MONDO:equivalentTo"}
xref: SCTID:717041008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.91/0.05"}
xref: UMLS:C4274085 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010622 ! recessive X-linked ichthyosis
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:281090"} ! X-linked ichthyosis syndrome
is_a: MONDO:0020215 {source="Orphanet:461-adapted-by-cjm", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! syndromic corneal dystrophy
is_a: MONDO:0020279 {source="Orphanet:461-adapted-by-cjm", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! metabolic disease with corneal opacity
intersection_of: MONDO:0010622 ! recessive X-linked ichthyosis
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://identifiers.org/snomedct/717041008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202782
property_value: exactMatch Orphanet:281090

[Term]
id: MONDO:0017265
name: autosomal recessive congenital ichthyosis
def: "Autosomal recessive form of inherited ichthyosis." [MONDO:patterns/autosomal_recessive]
comment: Editor note: ORDO classifies as non-syndromic but syndromic forms exist
subset: ordo_group_of_disorders {source="Orphanet:281097"}
synonym: "ARCI" EXACT [DOID:0060655, Orphanet:281097]
synonym: "autosomal recessive inherited ichthyosis" EXACT []
synonym: "ichthyosis, congenital, autosomal recessive" EXACT [OMIMPS:242300]
synonym: "inherited ichthyosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0060655 {source="MONDO:equivalentTo"}
xref: OMIMPS:242300 {source="DOID:0060655", source="MONDO:equivalentTo"}
xref: Orphanet:281097 {source="DOID:0060655", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015947 ! inherited ichthyosis
relationship: excluded_subClassOf MONDO:0017262 {source="Orphanet:281097"} ! inherited non-syndromic ichthyosis
property_value: exactMatch DOID:0060655
property_value: exactMatch Orphanet:281097

[Term]
id: MONDO:0017266
name: keratinopathic ichthyosis
subset: ordo_group_of_disorders {source="Orphanet:281103"}
synonym: "KPI" EXACT [Orphanet:281103]
xref: Orphanet:281103 {source="MONDO:equivalentTo"}
xref: SCTID:724837004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511307 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017262 {source="Orphanet:281103"} ! inherited non-syndromic ichthyosis
property_value: exactMatch http://identifiers.org/snomedct/724837004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511307
property_value: exactMatch Orphanet:281103

[Term]
id: MONDO:0017267
name: self-healing collodion baby
def: "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." [Orphanet:281122]
subset: ordo_disease {source="Orphanet:281122"}
synonym: "self-improving collodion baby" RELATED [Orphanet:281122]
synonym: "self-improving congenital ichthyosis" EXACT [Orphanet:281122]
synonym: "SHCB" EXACT [Orphanet:281122]
synonym: "SICI" EXACT [Orphanet:281122]
xref: ICD10:Q80.2 {source="ORDO:281122/attributed", source="ORDO:281122/ntbt", source="Orphanet:281122"}
xref: Orphanet:281122 {source="MONDO:equivalentTo"}
xref: SCTID:718632004 {source="MONDO:kboom-pr-0.80/0.58/0.13", source="MONDO:equivalentTo"}
xref: UMLS:C1855789 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:281122"}
is_a: MONDO:0017265 {source="Orphanet:281122"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch http://identifiers.org/snomedct/718632004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855789
property_value: exactMatch Orphanet:281122

[Term]
id: MONDO:0017268
name: acral self-healing collodion baby
def: "Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." [Orphanet:281127]
subset: ordo_disease {source="Orphanet:281127"}
synonym: "acral SHCB" EXACT [Orphanet:281127]
xref: ICD10:Q80.2 {source="Orphanet:281127", source="ORDO:281127/attributed", source="ORDO:281127/ntbt"}
xref: Orphanet:281127 {source="MONDO:equivalentTo"}
xref: SCTID:718633009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017265 {source="Orphanet:281127"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch http://identifiers.org/snomedct/718633009
property_value: exactMatch Orphanet:281127

[Term]
id: MONDO:0017269
name: X-linked ichthyosis syndrome
def: "X-linked form of inherited ichthyosis syndromic form." [MONDO:patterns/x_linked]
comment: Editor note: check relationship to syndromic recessive X-linked ichthyosis
subset: ordo_group_of_disorders {source="Orphanet:281210"}
synonym: "inherited ichthyosis syndromic form, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked inherited ichthyosis syndromic form" EXACT [MONDO:design_pattern]
xref: MedDRA:10048063 {source="ORDO:281210/e", source="Orphanet:281210"}
xref: Orphanet:281210 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0017263 {source="MONDO:Redundant", source="MONDOLEX:0017269", source="Orphanet:281210"} ! inherited ichthyosis syndromic form
property_value: exactMatch http://identifiers.org/meddra/10048063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079588
property_value: exactMatch Orphanet:281210

[Term]
id: MONDO:0017270
name: autosomal ichthyosis syndrome
subset: ordo_group_of_disorders {source="Orphanet:281217"}
xref: Orphanet:281217 {source="MONDO:equivalentTo"}
xref: UMLS:CN202791 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017263 {source="Orphanet:281217"} ! inherited ichthyosis syndromic form
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202791
property_value: exactMatch Orphanet:281217

[Term]
id: MONDO:0017271
name: autosomal ichthyosis syndrome with prominent hair abnormalities
subset: ordo_group_of_disorders {source="Orphanet:281222"}
xref: Orphanet:281222 {source="MONDO:equivalentTo"}
xref: UMLS:CN202792 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017270 {source="Orphanet:281222"} ! autosomal ichthyosis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202792
property_value: exactMatch Orphanet:281222

[Term]
id: MONDO:0017272
name: autosomal ichthyosis syndrome with prominent neurologics signs
subset: ordo_group_of_disorders {source="Orphanet:281238"}
synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [Orphanet:281238]
xref: Orphanet:281238 {source="MONDO:equivalentTo"}
xref: UMLS:CN202793 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017270 {source="Orphanet:281238"} ! autosomal ichthyosis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202793
property_value: exactMatch Orphanet:281238

[Term]
id: MONDO:0017273
name: autosomal ichthyosis syndrome with fatal disease course
subset: ordo_group_of_disorders {source="Orphanet:281241"}
xref: Orphanet:281241 {source="MONDO:equivalentTo"}
xref: UMLS:CN202794 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017270 {source="Orphanet:281241"} ! autosomal ichthyosis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202794
property_value: exactMatch Orphanet:281241

[Term]
id: MONDO:0017274
name: autosomal ichthyosis syndrome with other associated signs
subset: ordo_group_of_disorders {source="Orphanet:281244"}
xref: Orphanet:281244 {source="MONDO:equivalentTo"}
xref: UMLS:CN202795 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017270 {source="Orphanet:281244"} ! autosomal ichthyosis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202795
property_value: exactMatch Orphanet:281244

[Term]
id: MONDO:0017275
name: spastic paraplegia-facial-cutaneous lesions syndrome
def: "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." [Orphanet:2819]
subset: ordo_malformation_syndrome {source="Orphanet:2819"}
synonym: "Bahemuka Brown syndrome" RELATED [GARD:0000806]
synonym: "Bahemuka-Brown syndrome" EXACT [Orphanet:2819]
synonym: "spastic paraplegia facial cutaneous lesions" RELATED [GARD:0000806]
xref: GARD:0000806 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C537797 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2819 {source="MONDO:equivalentTo"}
xref: SCTID:763403007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931617 {source="Orphanet:2819", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015087 {source="Orphanet:2819"} ! autosomal dominant complex spastic paraplegia
property_value: exactMatch http://identifiers.org/mesh/C537797
property_value: exactMatch http://identifiers.org/snomedct/763403007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931617
property_value: exactMatch Orphanet:2819

[Term]
id: MONDO:0017276
name: frontotemporal dementia
def: "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms)." [Orphanet:282]
subset: ordo_group_of_disorders {source="Orphanet:282"}
synonym: "frontotemporal lobar degeneration" EXACT [DOID:9255]
synonym: "frontotemporal lobe dementia (FLDEM)" RELATED [GARD:0008436]
synonym: "FTD" EXACT [Orphanet:282]
synonym: "MSTD" RELATED [GARD:0008436]
synonym: "multiple system tauopathy with presenile dementia" EXACT [DOID:9255]
synonym: "pallidopontonigral degeneration" EXACT [DOID:9255]
synonym: "Wilhemsen-Lynch disease" EXACT [DOID:9255]
xref: COHD:4043378 {source="MONDO:equivalentTo"}
xref: DOID:9255 {source="MONDO:equivalentTo"}
xref: GARD:0008436 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G31.0 {source="ORDO:282/attributed", source="ORDO:282/ntbt", source="Orphanet:282"}
xref: MedDRA:10068968 {source="ORDO:282/e", source="Orphanet:282"}
xref: MESH:D057180 {source="ORDO:282/e", source="MONDO:equivalentTo", source="Orphanet:282"}
xref: NCIT:C84719 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:282 {source="MONDO:equivalentTo", source="DOID:9255"}
xref: UMLS:C0338451 {source="ORDO:282/e", source="MONDO:equivalentTo", source="NCIT:C84719", source="Orphanet:282"}
xref: UMLS:C0520716 {source="MONDO:equivalentTo", source="DOID:9255", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020137 {source="Orphanet:282"} ! frontotemporal degeneration with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:282/inferred"} ! genetic neurodegenerative disease with dementia
relationship: excluded_subClassOf MONDO:0003996 {source="DOID:9255"} ! basal ganglia disease
property_value: closeMatch http://identifiers.org/mesh/C563003
property_value: closeMatch http://identifiers.org/snomedct/42369001
property_value: exactMatch DOID:9255
property_value: exactMatch http://identifiers.org/meddra/10068968
property_value: exactMatch http://identifiers.org/mesh/D057180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520716
property_value: exactMatch NCIT:C84719
property_value: exactMatch Orphanet:282

[Term]
id: MONDO:0017277
name: partial deletion of chromosome 12
subset: ordo_group_of_disorders {source="Orphanet:282124"}
synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2, Orphanet:282124]
synonym: "partial monosomy of chromosome 12" EXACT [Orphanet:282124]
xref: ICD10:Q93.5 {source="ORDO:282124/attributed", source="ORDO:282124/ntbt", source="Orphanet:282124"}
xref: Orphanet:282124 {source="MONDO:equivalentTo"}
is_a: MONDO:0020054 {source="Orphanet:282124"} ! partial autosomal monosomy
property_value: exactMatch Orphanet:282124

[Term]
id: MONDO:0017278
name: autoimmune polyendocrinopathy
def: "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." [NCIT:C129726]
subset: ordo_group_of_disorders {source="Orphanet:282196"}
synonym: "APS" EXACT [Orphanet:282196]
synonym: "autoimmune polyendocrine syndrome" EXACT [DOID:14040]
synonym: "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome" EXACT [NCIT:C129726]
synonym: "autoimmune polyendocrinopathy" EXACT [DOID:14040, NCIT:C84576]
synonym: "autoimmune polyendocrinopathy syndrome" EXACT [MONDO:0001865, NCIT:C84576]
synonym: "autoimmune polyglandular failure" EXACT [DOID:14040]
synonym: "autoimmune polyglandular syndrome" EXACT [Orphanet:282196]
synonym: "autoimmune polyglandular syndrome(s)" EXACT [NCIT:C129726]
synonym: "Lloyd's syndrome" EXACT [DOID:14040, MTHICD9_2006:258.1]
xref: DOID:14040 {source="MONDO:equivalentTo"}
xref: ICD10:E31.0 {source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo", source="ORDO:282196/ntbt"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C129726 {source="MONDO:equivalentTo"}
xref: NCIT:C84576 {source="DOID:14040", source="MONDO:equivalentTo"}
xref: Orphanet:282196 {source="MONDO:equivalentTo"}
xref: SCTID:41864002 {source="DOID:14040", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.21"}
xref: UMLS:C0085409 {source="ORDO:282196/e", source="MEDGEN:kboom-pr98-c98", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo", source="NCIT:C84576"}
xref: UMLS:C4316913 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000569 {source="DOID:14040", source="MONDO:Redundant", source="linkedlifedata"} ! autoimmune disease of endocrine system
is_a: MONDO:0002254 {source="MONDOLEX:0017278", source="NCIT:C129726"} ! syndromic disease
is_a: MONDO:0015126 {source="MONDO:Redundant", source="Orphanet:282196"} ! polyendocrinopathy
property_value: closeMatch http://identifiers.org/mesh/D016884
property_value: closeMatch http://identifiers.org/snomedct/18947001
property_value: closeMatch http://identifiers.org/snomedct/190567009
property_value: closeMatch http://identifiers.org/snomedct/190568004
property_value: exactMatch DOID:14040
property_value: exactMatch http://identifiers.org/snomedct/41864002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4316913
property_value: exactMatch NCIT:C129726
property_value: exactMatch NCIT:C84576
property_value: exactMatch Orphanet:282196

[Term]
id: MONDO:0017279
name: young-onset Parkinson disease
def: "Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." [Orphanet:2828]
subset: ordo_disease {source="Orphanet:2828"}
synonym: "early-onset Parkinson disease" EXACT [Orphanet:2828]
synonym: "early-onset Parkinson's disease" RELATED [DOID:0060894]
synonym: "YOPD" EXACT [Orphanet:2828]
xref: DOID:0060894 {source="MONDO:equivalentTo"}
xref: ICD10:G20 {source="ORDO:2828/attributed", source="ORDO:2828/ntbt", source="Orphanet:2828"}
xref: Orphanet:2828 {source="MONDO:equivalentTo"}
xref: SCTID:715345007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
is_a: MONDO:0005180 {source="DOID:0060894", source="linkedlifedata"} ! Parkinson disease
is_a: MONDO:0015914 {source="Orphanet:2828"} ! primary orthostatic hypotension
is_a: MONDO:0017661 {source="Orphanet:2828"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
property_value: exactMatch DOID:0060894
property_value: exactMatch http://identifiers.org/snomedct/715345007
property_value: exactMatch Orphanet:2828

[Term]
id: MONDO:0017280
name: demodicidosis
def: "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." [Orphanet:283]
subset: gard_rare {source="GARD:0001802"}
subset: ordo_disease {source="Orphanet:283"}
synonym: "Demodex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Demodex disease or disorder" EXACT []
synonym: "Demodex infectious disease" EXACT []
synonym: "Demodicosis" EXACT [Orphanet:283]
xref: GARD:0001802 {source="MONDO:equivalentTo"}
xref: ICD10:B88.0 {source="ORDO:283/ntbt", source="Orphanet:283"}
xref: Orphanet:283 {source="MONDO:equivalentTo"}
xref: UMLS:C3854478 {source="MONDO:equivalentTo", source="Orphanet:283", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0005135 {source="Orphanet:283"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3854478
property_value: exactMatch Orphanet:283
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1802/demodicidosis xsd:anyURI {source="GARD:0001802"}

[Term]
id: MONDO:0017281
name: renal caliceal diverticuli-deafness syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2838"}
xref: Orphanet:2838 {source="MONDO:equivalentTo"}
xref: UMLS:CN202834 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:2838"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:2838"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202834
property_value: exactMatch Orphanet:2838

[Term]
id: MONDO:0017282
name: alveolar echinococcosis
def: "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." [Orphanet:284]
subset: gard_rare
subset: ordo_disease {source="Orphanet:284"}
synonym: "alveolococcosis" EXACT [DOID:12148]
synonym: "echinococcosis" BROAD [GARD:0000207]
synonym: "Echinococcus multilocularis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus multilocularis disease or disorder" EXACT []
synonym: "Echinococcus multilocularis infection" EXACT [Orphanet:284]
synonym: "echinococcus multilocularis infection" RELATED [DOID:12148]
synonym: "Echinococcus multilocularis infectious disease" EXACT []
synonym: "multilocular hydatid" EXACT [DOID:12148]
synonym: "small fox tapeworm" EXACT [DOID:12148]
xref: DOID:12148 {source="MONDO:equivalentTo"}
xref: GARD:0000207 {source="MONDO:equivalentTo"}
xref: ICD10:B67.5 {source="ORDO:284/btnt", source="Orphanet:284"}
xref: ICD10:B67.6 {source="ORDO:284/btnt", source="Orphanet:284", source="DOID:12148"}
xref: ICD10:B67.7 {source="ORDO:284/btnt", source="Orphanet:284", source="DOID:12148"}
xref: ICD9:122.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:12148"}
xref: MedDRA:10053042 {source="ORDO:284/e", source="Orphanet:284"}
xref: MESH:C536591 {source="MONDO:equivalentTo", source="ORDO:284/e", source="MONDO:ontobio", source="Orphanet:284"}
xref: Orphanet:284 {source="MONDO:equivalentTo"}
xref: SCTID:21009004 {source="MONDO:equivalentTo", source="DOID:12148", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0152069 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96", source="DOID:12148"}
xref: UMLS:C0948954 {source="MONDO:equivalentTo", source="ORDO:284/e", source="MEDGEN:kboom-pr92-c96", source="Orphanet:284"}
is_a: MONDO:0005738 {source="DOID:12148", source="MESH:C536591/inferred", source="MONDO:Redundant"} ! echinococcosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/240816000
property_value: exactMatch DOID:12148
property_value: exactMatch http://identifiers.org/meddra/10053042
property_value: exactMatch http://identifiers.org/mesh/C536591
property_value: exactMatch http://identifiers.org/snomedct/21009004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948954
property_value: exactMatch Orphanet:284

[Term]
id: MONDO:0017283
name: facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
subset: ordo_clinical_subtype {source="Orphanet:284169"}
synonym: "10p12p11 microdeletion syndrome" EXACT [Orphanet:284169]
synonym: "Del(10)(p11.21p12.31)" EXACT [Orphanet:284169]
synonym: "deletion 10p11.21p12.31" EXACT [Orphanet:284169]
synonym: "monosomy 10p11.21p12.31" EXACT [Orphanet:284169]
xref: ICD10:Q83.5 {source="ORDO:284169/attributed", source="ORDO:284169/ntbt", source="Orphanet:284169"}
xref: Orphanet:284169 {source="MONDO:equivalentTo"}
xref: UMLS:CN202845 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0014741 ! facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
is_a: MONDO:0016892 {source="Orphanet:284169"} ! partial deletion of the short arm of chromosome 10
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202845
property_value: exactMatch Orphanet:284169

[Term]
id: MONDO:0017284
name: Xp22.13p22.2 duplication syndrome
subset: ordo_malformation_syndrome {source="Orphanet:284180"}
synonym: "dup(X)(p22)" EXACT [Orphanet:284180]
synonym: "dup(X)(p22.13p22.2)" EXACT [Orphanet:284180]
synonym: "Duplication Xp22" EXACT [Orphanet:284180]
xref: ICD10:Q99.8 {source="Orphanet:284180", source="ORDO:284180/attributed", source="ORDO:284180/ntbt"}
xref: Orphanet:284180 {source="MONDO:equivalentTo"}
xref: UMLS:CN202846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284180", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:284180"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017009 {source="Orphanet:284180"} ! partial duplication of the short arm of chromosome X
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202846
property_value: exactMatch Orphanet:284180

[Term]
id: MONDO:0017285
name: penoscrotal transposition (disease)
def: "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." [Orphanet:2842]
subset: ordo_morphological_anomaly {source="Orphanet:2842"}
synonym: "congenital penoscrotal transposition" EXACT [NCIT:C99010]
synonym: "congenital transposition of the penis" RELATED [GARD:0004273]
synonym: "penoscrotal transposition" EXACT [MONDO:ambiguous]
synonym: "Prepenile scrotum" RELATED [GARD:0004273]
xref: GARD:0004273 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100600 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q55.8 {source="ORDO:2842/ntbt", source="Orphanet:2842"}
xref: MedDRA:10067287 {source="ORDO:2842/e", source="Orphanet:2842"}
xref: MESH:C536650 {source="ORDO:2842/e", source="MONDO:equivalentTo", source="Orphanet:2842", source="MONDO:ontobio"}
xref: NCIT:C99010 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: Orphanet:2842 {source="MONDO:equivalentTo"}
xref: SCTID:312005008 {source="MONDO:equivalentTo"}
xref: UMLS:C1868854 {source="NCIT:C99010", source="ORDO:2842/e", source="MONDO:equivalentTo", source="Orphanet:2842"}
is_a: MONDO:0015933 {source="Orphanet:2842"} ! non-syndromic urogenital tract malformation of male
property_value: exactMatch http://identifiers.org/meddra/10067287
property_value: exactMatch http://identifiers.org/mesh/C536650
property_value: exactMatch http://identifiers.org/snomedct/312005008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868854
property_value: exactMatch NCIT:C99010
property_value: exactMatch Orphanet:2842

[Term]
id: MONDO:0017286
name: tempi syndrome
def: "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." [Orphanet:284227]
subset: gard_rare {source="GARD:0010962"}
subset: ordo_clinical_syndrome {source="Orphanet:284227"}
synonym: "telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" RELATED [GARD:0010962]
synonym: "telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome" EXACT [Orphanet:284227]
xref: GARD:0010962 {source="MONDO:equivalentTo"}
xref: NCIT:C121656 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:284227 {source="MONDO:equivalentTo"}
xref: SCTID:718614004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.89/21.61"}
xref: UMLS:C3854394 {source="MONDO:equivalentTo", source="Orphanet:284227", source="NCIT:C121656"}
is_a: MONDO:0002254 {source="MONDOLEX:0017286", source="NCIT:C121656"} ! syndromic disease
is_a: MONDO:0015938 {source="Orphanet:284227"} ! systemic disease
property_value: exactMatch http://identifiers.org/snomedct/718614004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3854394
property_value: exactMatch NCIT:C121656
property_value: exactMatch Orphanet:284227
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome xsd:anyURI {source="GARD:0010962"}

[Term]
id: MONDO:0017287
name: IgG4-related disease
def: "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." [NCIT:C95992]
subset: ordo_group_of_disorders {source="Orphanet:284264"}
synonym: "hyper-IgG4 disease" RELATED [GARD:0012521]
synonym: "IgG4-associated disease" RELATED [GARD:0012521]
synonym: "IgG4-positive multiorgan lymphoproliferative syndrome" RELATED [GARD:0012521]
synonym: "IgG4-related autoimmune disease" RELATED [GARD:0012521]
synonym: "IgG4-related sclerosing disease" EXACT [Orphanet:284264]
synonym: "IgG4-related systemic disease" EXACT [Orphanet:284264]
synonym: "IgG4-related systemic sclerosing disease" RELATED [GARD:0012521]
synonym: "IgG4-syndrome" RELATED [GARD:0012521]
synonym: "Immunoglobulin G4-related sclerosing disease" EXACT [Orphanet:284264]
synonym: "multifocal fibrosclerosis" RELATED [GARD:0012521]
synonym: "multifocal idiopathic fibrosclerosis" RELATED [GARD:0012521]
synonym: "systemic IgG4-related plasmacytic syndrome" RELATED [GARD:0012521]
synonym: "systemic IgG4-related sclerosing syndrome" RELATED [GARD:0012521]
xref: GARD:0012521 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MedDRA:10071569 {source="ORDO:284264/e", source="Orphanet:284264"}
xref: NCIT:C95992 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:284264 {source="MONDO:equivalentTo"}
xref: UMLS:C3203653 {source="ORDO:284264/e", source="Orphanet:284264", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0015939 {source="Orphanet:284264"} ! systemic autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4087124
property_value: exactMatch http://identifiers.org/meddra/10071569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3203653
property_value: exactMatch NCIT:C95992
property_value: exactMatch Orphanet:284264

[Term]
id: MONDO:0017288
name: DICER1 syndrome
def: "A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter." [NCIT:C123317]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:284343"}
synonym: "DICER1 syndrome" EXACT [GARD:0010734, NCIT:C123317, Orphanet:284343]
synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734]
synonym: "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" RELATED [GARD:0010734]
synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "PPB familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "PPBFTDS" EXACT [Orphanet:284343]
xref: EFO:0009068 {source="MONDO:equivalentTo"}
xref: GARD:0010734 {source="MONDO:equivalentTo"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C123317 {source="MONDO:equivalentTo"}
xref: Orphanet:284343 {source="MONDO:equivalentTo"}
xref: SCTID:702411003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3839822 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="NCIT:C123317"}
xref: UMLS:CN202862 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN240512 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0017288", source="NCIT:C123317/inferred"} ! syndromic disease
relationship: disease_has_feature MONDO:0011014 {source="MONDOLEX:0017288", source="Orphanet:284343"} ! pleuropulmonary blastoma
property_value: exactMatch http://identifiers.org/snomedct/702411003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240512
property_value: exactMatch NCIT:C123317
property_value: exactMatch Orphanet:284343
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome xsd:anyURI {source="GARD:0010734"}

[Term]
id: MONDO:0017289
name: fetal lung interstitial tumor
subset: ordo_clinical_subtype {source="Orphanet:284362"}
synonym: "flit" EXACT [Orphanet:284362]
synonym: "immature interstitial mesenchymal tumor" EXACT [Orphanet:284362]
xref: Orphanet:284362 {source="MONDO:equivalentTo"}
xref: UMLS:CN202863 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011014 {source="Orphanet:284362"} ! pleuropulmonary blastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202863
property_value: exactMatch Orphanet:284362

[Term]
id: MONDO:0017290
name: familial intrahepatic cholestasis
def: "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:284385"}
synonym: "hereditary intrahepatic cholestasis" EXACT [MONDO:patterns/hereditary]
xref: ICD10:K83.1 {source="Orphanet:284385", source="ORDO:284385/attributed", source="ORDO:284385/ntbt"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:284385 {source="MONDO:equivalentTo"}
xref: SCTID:74162007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.72"}
xref: UMLS:CN227107 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN239338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015509 ! genetic biliary tract disease
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019072 ! intrahepatic cholestasis
intersection_of: MONDO:0019072 ! intrahepatic cholestasis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/74162007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239338
property_value: exactMatch Orphanet:284385

[Term]
id: MONDO:0017291
name: reversible cerebral vasoconstriction syndrome
def: "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." [Orphanet:284388]
subset: gard_rare {source="GARD:0012768"}
subset: ordo_clinical_syndrome {source="Orphanet:284388"}
synonym: "RCVS" EXACT [Orphanet:284388]
xref: GARD:0012768 {source="MONDO:equivalentTo"}
xref: ICD10:I67.8 {source="ORDO:284388/ntbt", source="Orphanet:284388"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:284388 {source="MONDO:equivalentTo"}
xref: SCTID:700467001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3544214 {source="MONDO:equivalentTo", source="Orphanet:284388"}
is_a: MONDO:0021146 {source="Orphanet:284388"} ! headache disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/700467001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3544214
property_value: exactMatch Orphanet:284388
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome xsd:anyURI {source="GARD:0012768"}

[Term]
id: MONDO:0017292
name: well-differentiated fetal adenocarcinoma of the lung
def: "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss." [Orphanet:284395]
subset: ordo_disease {source="Orphanet:284395"}
synonym: "fetal adenocarcinoma" EXACT [NCIT:C45509]
synonym: "fetal lung adenocarcinoma" EXACT [NCIT:C45509]
synonym: "pulmonary adenocarcinoma of fetal type" EXACT [NCIT:C45509]
synonym: "pulmonary endodermal tumor resembling fetal lung" EXACT [NCIT:C45509]
synonym: "WDFA" EXACT [Orphanet:284395]
synonym: "well-differentiated fetal lung adenocarcinoma" EXACT [NCIT:C45509]
xref: ICD10:C34.1 {source="Orphanet:284395", source="ORDO:284395/btnt"}
xref: ICD10:C34.2 {source="Orphanet:284395", source="ORDO:284395/btnt"}
xref: ICD10:C34.3 {source="Orphanet:284395", source="ORDO:284395/btnt"}
xref: ICD10:C34.8 {source="Orphanet:284395", source="ORDO:284395/btnt"}
xref: ICDO:8333/3 {source="NCIT:C45509"}
xref: NCIT:C45509 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
xref: Orphanet:284395 {source="MONDO:equivalentTo"}
xref: UMLS:C1266047 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1708045 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C45509", source="MONDO:equivalentTo"}
xref: UMLS:CN202865 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005061 {source="MONDOLEX:0017292", source="NCIT:C45509"} ! lung adenocarcinoma
is_a: MONDO:0005606 {source="NCIT:C45509"} ! tubular adenocarcinoma
is_a: MONDO:0015119 {source="Orphanet:284395"} ! bronchopulmonary tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202865
property_value: exactMatch NCIT:C45509
property_value: exactMatch Orphanet:284395

[Term]
id: MONDO:0017293
name: obsolete small cell carcinoma of the bladder
is_obsolete: true
replaced_by: MONDO:0004114

[Term]
id: MONDO:0017294
name: glycerol kinase deficiency, infantile form
def: "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." [Orphanet:284408]
subset: ordo_clinical_subtype {source="Orphanet:284408"}
xref: ICD10:E74.8 {source="Orphanet:284408", source="ORDO:284408/attributed", source="ORDO:284408/ntbt"}
xref: Orphanet:284408 {source="MONDO:equivalentTo"}
is_a: MONDO:0010613 {source="Orphanet:284408/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! inborn glycerol kinase deficiency
is_a: MONDO:0015920 {source="Orphanet:284408"} ! syndromic neurometabolic disease with X-linked intellectual disability
relationship: excluded_subClassOf MONDO:0018459 {source="Orphanet:284408"} ! isolated glycerol kinase deficiency
property_value: exactMatch Orphanet:284408

[Term]
id: MONDO:0017295
name: glycerol kinase deficiency, juvenile form
def: "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." [Orphanet:284411]
subset: ordo_clinical_subtype {source="Orphanet:284411"}
xref: ICD10:E74.8 {source="ORDO:284411/attributed", source="ORDO:284411/ntbt", source="Orphanet:284411"}
xref: Orphanet:284411 {source="MONDO:equivalentTo"}
is_a: MONDO:0018459 {source="Orphanet:284411"} ! isolated glycerol kinase deficiency
property_value: exactMatch Orphanet:284411

[Term]
id: MONDO:0017296
name: glycerol kinase deficiency, adult form
def: "adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." [Orphanet:284414]
subset: ordo_clinical_subtype {source="Orphanet:284414"}
xref: ICD10:E74.8 {source="ORDO:284414/attributed", source="ORDO:284414/ntbt", source="Orphanet:284414"}
xref: Orphanet:284414 {source="MONDO:equivalentTo"}
is_a: MONDO:0018459 {source="Orphanet:284414"} ! isolated glycerol kinase deficiency
property_value: exactMatch Orphanet:284414

[Term]
id: MONDO:0017297
name: CLIPPERS
subset: ordo_disease {source="Orphanet:284448"}
synonym: "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" EXACT [Orphanet:284448]
xref: GARD:0010779 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:284448 {source="MONDO:equivalentTo"}
xref: UMLS:C3854437 {source="MONDO:equivalentTo", source="Orphanet:284448", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015916 {source="Orphanet:284448"} ! rare neuroinflammatory or neuroimmunological disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3854437
property_value: exactMatch Orphanet:284448

[Term]
id: MONDO:0017298
name: acute zonal occult outer retinopathy
def: "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." [https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy]
subset: gard_rare {source="GARD:0008640"}
subset: ordo_disease {source="Orphanet:284454"}
synonym: "AZOOR" EXACT [Orphanet:284454]
xref: GARD:0008640 {source="MONDO:equivalentTo"}
xref: ICD9:362.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538223 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:284454 {source="MONDO:equivalentTo"}
xref: SCTID:312929003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0730298 {source="MONDO:equivalentTo", source="Orphanet:284454", source="ORDO:284454/e"}
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C538223
property_value: exactMatch http://identifiers.org/snomedct/312929003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730298
property_value: exactMatch Orphanet:284454
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy xsd:anyURI {source="GARD:0008640"}

[Term]
id: MONDO:0017299
name: acute annular outer retinopathy
subset: ordo_disease {source="Orphanet:284460"}
synonym: "AAOR" EXACT [Orphanet:284460]
xref: Orphanet:284460 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch Orphanet:284460

[Term]
id: MONDO:0017300
name: congenital pericardium anomaly
def: "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms)." [Orphanet:2846]
subset: ordo_group_of_disorders {source="Orphanet:2846"}
xref: ICD10:Q24.8 {source="ORDO:2846/ntbt", source="Orphanet:2846"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:2846 {source="MONDO:equivalentTo"}
xref: SCTID:93018000 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:2846"} ! congenital heart malformation
property_value: exactMatch http://identifiers.org/snomedct/93018000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685699
property_value: exactMatch Orphanet:2846

[Term]
id: MONDO:0017301
name: pericardial and diaphragmatic defect
def: "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." [Orphanet:2847]
subset: ordo_malformation_syndrome {source="Orphanet:2847"}
xref: Orphanet:2847 {source="MONDO:equivalentTo"}
is_a: MONDO:0015216 {source="Orphanet:2847"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: exactMatch Orphanet:2847

[Term]
id: MONDO:0017302
name: qualitative or quantitative defects of troponin
subset: ordo_group_of_disorders {source="Orphanet:284786"}
xref: Orphanet:284786 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:284786"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:284786

[Term]
id: MONDO:0017303
name: qualitative or quantitative defects of tropomyosin
subset: ordo_group_of_disorders {source="Orphanet:284790"}
xref: Orphanet:284790 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:284790"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:284790

[Term]
id: MONDO:0017304
name: ocular albinism (disease)
def: "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." [MESH:D016117]
subset: ordo_group_of_disorders {source="Orphanet:284804"}
synonym: "ocular albinism" EXACT [MONDO:ambiguous]
synonym: "XLOA" EXACT [Orphanet:54]
xref: DOID:0050633 {source="MONDO:equivalentTo"}
xref: HP:0001107 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:284804", source="ORDO:284804/inclusion", source="ORDO:284804/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10065276 {source="Orphanet:284804", source="ORDO:284804/e"}
xref: MESH:D016117 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:284804 {source="MONDO:equivalentTo"}
xref: SCTID:26399002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018134 {source="Orphanet:284804"} ! disorder of melanin metabolism
is_a: MONDO:0020275 {source="Orphanet:284804"} ! oculocutaneous or ocular albinism
property_value: exactMatch DOID:0050633
property_value: exactMatch http://identifiers.org/meddra/10065276
property_value: exactMatch http://identifiers.org/mesh/D016117
property_value: exactMatch http://identifiers.org/snomedct/26399002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078917
property_value: exactMatch Orphanet:284804

[Term]
id: MONDO:0017305
name: syndromic oculocutaneous albinism
def: "A oculocutaneous albinism that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:284811"}
synonym: "syndrome associated with oculocutaneous albinism" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with oculocutaneous albinism" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic]
xref: ICD10:E70.3 {source="ORDO:284811/attributed", source="ORDO:284811/ntbt", source="MONDO:relatedTo", source="Orphanet:284811"}
xref: Orphanet:284811 {source="MONDO:equivalentTo"}
xref: UMLS:CN227111 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018134 ! disorder of melanin metabolism
is_a: MONDO:0019290 ! hypopigmentation of the skin (disease)
is_a: MONDO:0020275 ! oculocutaneous or ocular albinism
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227111
property_value: exactMatch Orphanet:284811

[Term]
id: MONDO:0017306
name: disorder of phenylalanine metabolism
subset: ordo_group_of_disorders {source="Orphanet:284814"}
xref: ICD10:E70.0 {source="ORDO:284814/specific", source="ORDO:284814/btnt", source="Orphanet:284814"}
xref: ICD10:E70.1 {source="ORDO:284814/specific", source="ORDO:284814/btnt", source="Orphanet:284814"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:284814 {source="MONDO:equivalentTo"}
xref: SCTID:12957008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0268461 {source="MONDO:equivalentTo", source="Orphanet:284814", source="ORDO:284814/e"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0019235 {source="Orphanet:284814"} ! inborn disorder of phenylalanin or tyrosine metabolism
property_value: exactMatch http://identifiers.org/snomedct/12957008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268461
property_value: exactMatch Orphanet:284814

[Term]
id: MONDO:0017307
name: disorder of tyrosine metabolism
subset: ordo_group_of_disorders {source="Orphanet:284818"}
xref: ICD10:E70.2 {source="ORDO:284818/specific", source="Orphanet:284818", source="ORDO:284818/e"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:284818 {source="MONDO:equivalentTo"}
xref: SCTID:37200009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN202881 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0019235 {source="Orphanet:284818"} ! inborn disorder of phenylalanin or tyrosine metabolism
property_value: exactMatch http://identifiers.org/snomedct/37200009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202881
property_value: exactMatch Orphanet:284818

[Term]
id: MONDO:0017308
name: obsolete Marfan syndrome type 2
def: "hypothesized form of Marfan; dubious" [https://github.com/monarch-initiative/monarch-disease-ontology/issues/101]
subset: ordo_clinical_subtype {source="Orphanet:284973"}
subset: speculative
synonym: "Marfan syndrome type II" EXACT [NCIT:C75007]
synonym: "MFS2" EXACT [Orphanet:284973]
xref: ICD10:Q87.4 {source="ORDO:284973/attributed", source="ORDO:284973/ntbt", source="Orphanet:284973"}
xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C75007 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:284973 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C2698016 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C75007"}
xref: UMLS:C2931058 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:284973", source="ORDO:284973/e"}
property_value: exactMatch http://identifiers.org/mesh/C535911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2698016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931058
property_value: exactMatch NCIT:C75007
property_value: exactMatch Orphanet:284973
is_obsolete: true
replaced_by: MONDO:0012427

[Term]
id: MONDO:0017309
name: neonatal Marfan syndrome
def: "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." [Orphanet:284979]
subset: ordo_disease {source="Orphanet:284979"}
synonym: "neonatal MFS" EXACT [Orphanet:284979]
xref: ICD10:Q87.4 {source="ORDO:284979/attributed", source="ORDO:284979/ntbt", source="Orphanet:284979"}
xref: Orphanet:284979 {source="MONDO:equivalentTo"}
xref: SCTID:763839005 {source="MONDO:equivalentTo"}
xref: UMLS:CN202885 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN536247 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0017310 {source="Orphanet:284979"} ! Marfan and Marfan-related disorder
is_a: MONDO:0017311 {source="Orphanet:284979"} ! rare disease with thoracic aortic aneurysm and aortic dissection
property_value: exactMatch http://identifiers.org/snomedct/763839005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536247
property_value: exactMatch Orphanet:284979

[Term]
id: MONDO:0017310
name: Marfan and Marfan-related disorder
subset: ordo_group_of_disorders {source="Orphanet:284993"}
xref: Orphanet:284993 {source="MONDO:equivalentTo"}
xref: UMLS:CN227112 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 {source="Orphanet:284993"} ! systemic disease
is_a: MONDO:0017133 {source="Orphanet:284993"} ! genetic systemic or rheumatologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227112
property_value: exactMatch Orphanet:284993

[Term]
id: MONDO:0017311
name: rare disease with thoracic aortic aneurysm and aortic dissection
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:285014"}
xref: ICD10:I71.1 {source="ORDO:285014/attributed", source="ORDO:285014/ntbt", source="Orphanet:285014"}
xref: ICD10:I71.2 {source="ORDO:285014/attributed", source="ORDO:285014/ntbt", source="Orphanet:285014"}
xref: Orphanet:285014 {source="MONDO:equivalentTo"}
xref: UMLS:CN202889 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="Orphanet:285014"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517", source="MONDO:0020002"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202889
property_value: exactMatch Orphanet:285014

[Term]
id: MONDO:0017312
name: Perrault syndrome
def: "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." [Orphanet:2855]
subset: ordo_disease {source="Orphanet:2855"}
synonym: "gonadal dysgenesis, XX type, with deafness" RELATED [GARD:0002542]
synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855]
xref: DOID:0050857 {source="MONDO:equivalentTo"}
xref: GARD:0002542 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2855/attributed", source="ORDO:2855/ntbt", source="Orphanet:2855"}
xref: OMIMPS:233400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="MONDO:equivalentTo", source="DOID:0050857"}
xref: SCTID:93466004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
xref: UMLS:C0685838 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:2855/e", source="Orphanet:2855"}
xref: UMLS:CN239459 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050857", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017965 {source="Orphanet:2855"} ! syndrome with 46,XX disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:2855"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0018157 {source="Orphanet:2855"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0018402 {source="Orphanet:2855"} ! female infertility due to gonadal dysgenesis
is_a: MONDO:0019589 {source="Orphanet:2855"} ! syndromic genetic deafness
is_a: MONDO:0019852 {source="Orphanet:2855"} ! inherited primary ovarian failure
property_value: exactMatch DOID:0050857
property_value: exactMatch http://identifiers.org/snomedct/93466004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685838
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239459
property_value: exactMatch Orphanet:2855

[Term]
id: MONDO:0017313
name: disorder of folate metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:285657"}
xref: Orphanet:285657 {source="MONDO:equivalentTo"}
xref: UMLS:CN227114 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017758 {source="Orphanet:285657"} ! disorder of vitamin and non-protein cofactor absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227114
property_value: exactMatch Orphanet:285657

[Term]
id: MONDO:0017314
name: Ehlers-Danlos syndrome, vascular type
def: "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." [Orphanet:286]
subset: clingen
subset: ordo_disease {source="Orphanet:286"}
synonym: "EDS IV" EXACT [Orphanet:286]
synonym: "EDS IV (formerly)" RELATED [GARD:0002082]
synonym: "EDS type 4" EXACT [Orphanet:286]
synonym: "EDS type 4 (formerly)" RELATED [GARD:0002082]
synonym: "EDS4 (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, arterial type" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, ecchymotic type" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, sack-Barabas type" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome type 4" EXACT [Orphanet:286]
synonym: "Ehlers-Danlos syndrome type 4 (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome type IV" EXACT [Orphanet:286]
synonym: "Ehlers-Danlos syndrome type IV (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome, type IV" EXACT [NCIT:C125699]
synonym: "sack-Barabas syndrome" EXACT [Orphanet:286]
synonym: "vascular EDS" RELATED [GARD:0002082]
synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082]
synonym: "vEDS" RELATED [GARD:0002082]
xref: GARD:0002082 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:286/attributed", source="ORDO:286/ntbt", source="Orphanet:286"}
xref: NCIT:C125699 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: Orphanet:286 {source="MONDO:equivalentTo"}
xref: SCTID:17025000 {source="MONDO:kboom-pr-1.00/0.80/9.08", source="MONDO:equivalentTo"}
is_a: MONDO:0017311 {source="Orphanet:286"} ! rare disease with thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0020066 {source="MONDOLEX:0017314", source="NCIT:C125699", source="Orphanet:286", source="linkedlifedata"} ! Ehlers-Danlos syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268338
property_value: exactMatch http://identifiers.org/snomedct/17025000
property_value: exactMatch NCIT:C125699
property_value: exactMatch Orphanet:286

[Term]
id: MONDO:0017315
name: short stature-webbed neck-heart disease syndrome
def: "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." [Orphanet:2865]
subset: ordo_malformation_syndrome {source="Orphanet:2865"}
synonym: "Al Gazali Aziz Salem syndrome" RELATED [GARD:0000583]
synonym: "Al Gazali-Aziz-Salem syndrome" EXACT [Orphanet:2865]
synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" RELATED [GARD:0000583]
synonym: "short stature, webbed neck, heart disease" RELATED [GARD:0000583]
xref: GARD:0000583 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2865/attributed", source="ORDO:2865/ntbt", source="Orphanet:2865"}
xref: MESH:C535613 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2865 {source="MONDO:equivalentTo"}
xref: SCTID:721073008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C2930950 {source="MONDO:equivalentTo", source="Orphanet:2865", source="ORDO:2865/e"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2865", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2865"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535613
property_value: exactMatch http://identifiers.org/snomedct/721073008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930950
property_value: exactMatch Orphanet:2865

[Term]
id: MONDO:0017316
name: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
def: "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." [Orphanet:2866]
subset: ordo_malformation_syndrome {source="Orphanet:2866"}
synonym: "short stature deafness neutrophil dysfunction" RELATED [GARD:0004841]
synonym: "thong Douglas Ferrante syndrome" RELATED [GARD:0004841]
synonym: "thong-Douglas-Ferrante syndrome" EXACT [Orphanet:2866]
xref: GARD:0004841 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:2866/attributed", source="ORDO:2866/ntbt", source="Orphanet:2866"}
xref: Orphanet:2866 {source="MONDO:equivalentTo"}
xref: SCTID:716192009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0019589 {source="Orphanet:2866"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/716192009
property_value: exactMatch Orphanet:2866

[Term]
id: MONDO:0017317
name: phakomatosis pigmentokeratotica
def: "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." [Orphanet:2874]
subset: ordo_malformation_syndrome {source="Orphanet:2874"}
synonym: "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" RELATED [GARD:0004311]
synonym: "Phacomatosis pigmentokeratotica" RELATED [GARD:0004311]
xref: GARD:0004311 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="Orphanet:2874", source="ORDO:2874/attributed", source="ORDO:2874/ntbt"}
xref: MESH:C537893 {source="Orphanet:2874", source="ORDO:2874/e", source="MONDO:equivalentTo"}
xref: Orphanet:2874 {source="MONDO:equivalentTo"}
xref: SCTID:723455009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931658 {source="Orphanet:2874", source="ORDO:2874/e", source="MONDO:equivalentTo"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005073 {source="Orphanet:2874"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:2874", source="indirect"} ! inherited skin tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020063 {source="Orphanet:2874"} ! malformation syndrome with hamartosis
is_a: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome
property_value: exactMatch http://identifiers.org/mesh/C537893
property_value: exactMatch http://identifiers.org/snomedct/723455009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931658
property_value: exactMatch Orphanet:2874

[Term]
id: MONDO:0017318
name: phakomatosis pigmentovascularis
subset: ordo_disease {source="Orphanet:2875"}
synonym: "association of cutaneous vascular malformations and different pigmentary disorders" RELATED [GARD:0004312]
synonym: "Phacomatosis pigmentovascularis" RELATED [GARD:0004312]
synonym: "phakomatosis pigmentovascularis" EXACT []
synonym: "port-wine stain with oculocutaneous melanosis" EXACT []
synonym: "PPv" RELATED [GARD:0004312]
xref: GARD:0004312 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="ORDO:2875/attributed", source="ORDO:2875/ntbt", source="Orphanet:2875"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537894 {source="MONDO:equivalentTo"}
xref: Orphanet:2875 {source="MONDO:equivalentTo"}
xref: SCTID:403545005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.67"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:2875"} ! syndromic developmental defect of the eye
is_a: MONDO:0019289 {source="Orphanet:2875"} ! hyperpigmentation of the skin
is_a: MONDO:0020063 {source="Orphanet:2875"} ! malformation syndrome with hamartosis
is_a: MONDO:0020222 {source="Orphanet:2875"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1274879
property_value: exactMatch http://identifiers.org/mesh/C537894
property_value: exactMatch http://identifiers.org/snomedct/403545005
property_value: exactMatch Orphanet:2875

[Term]
id: MONDO:0017319
name: hereditary elliptocytosis
def: "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." [Orphanet:288]
subset: ordo_disease {source="Orphanet:288"}
synonym: "congenital elliptocytosis" EXACT [DOID:2373]
synonym: "he" EXACT [Orphanet:288]
synonym: "Hereditary ovalocytosis" EXACT [NCIT:C35882]
synonym: "ovalocytosis" EXACT [CSP2005:0427-1524, DOID:2373]
xref: COHD:22288 {source="MONDO:equivalentTo"}
xref: DC:0000130 {source="MONDO:equivalentTo"}
xref: DOID:2373 {source="MONDO:equivalentTo"}
xref: GARD:0006621 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D58.1 {source="DOID:2373", source="MONDO:equivalentTo", source="ORDO:288/e", source="ORDO:288/specific", source="Orphanet:288"}
xref: ICD9:282.1 {source="DOID:2373", source="MONDO:superClassOf"}
xref: MedDRA:10014490 {source="ORDO:288/e", source="Orphanet:288"}
xref: MESH:D004612 {source="DOID:2373", source="MONDO:equivalentTo", source="ORDO:288/e", source="Orphanet:288"}
xref: NCIT:C35882 {source="DOID:2373", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.79/0.38"}
xref: Orphanet:288 {source="DOID:2373", source="MONDO:equivalentTo"}
xref: SCTID:178935009 {source="DOID:2373", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
xref: UMLS:C0013902 {source="DOID:2373", source="MONDO:equivalentTo", source="NCIT:C35882", source="ORDO:288/e", source="Orphanet:288"}
is_a: MONDO:0020101 {source="Orphanet:288"} ! constitutional hemolytic anemia due to membrane defect
property_value: closeMatch http://identifiers.org/snomedct/154801000
property_value: closeMatch http://identifiers.org/snomedct/267558001
property_value: closeMatch http://identifiers.org/snomedct/58864003
property_value: exactMatch DOID:2373
property_value: exactMatch http://identifiers.org/meddra/10014490
property_value: exactMatch http://identifiers.org/mesh/D004612
property_value: exactMatch http://identifiers.org/snomedct/178935009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013902
property_value: exactMatch NCIT:C35882
property_value: exactMatch NCIT:C36293
property_value: exactMatch Orphanet:288

[Term]
id: MONDO:0017320
name: phosphoenolpyruvate carboxykinase deficiency
def: "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." [Orphanet:2880]
subset: ordo_disease {source="Orphanet:2880"}
synonym: "PEPCK deficiency" EXACT [Orphanet:2880]
synonym: "phosphoenolpyruvate carboxykinase (GTP) deficiency" EXACT [NCIT:C99015]
xref: ICD10:E74.4 {source="Orphanet:2880", source="ORDO:2880/inclusion", source="ORDO:2880/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="ORDO:2880/e"}
xref: NCIT:C99015 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:2880 {source="MONDO:equivalentTo"}
xref: SCTID:5335002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.46"}
xref: UMLS:C0268194 {source="Orphanet:2880", source="MONDO:equivalentTo", source="NCIT:C99015", source="ORDO:2880/e"}
is_a: MONDO:0019225 {source="Orphanet:2880"} ! gluconeogenesis disorder
property_value: exactMatch http://identifiers.org/mesh/C536654
property_value: exactMatch http://identifiers.org/snomedct/5335002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268194
property_value: exactMatch NCIT:C99015
property_value: exactMatch Orphanet:2880

[Term]
id: MONDO:0017321
name: pili torti-onychodysplasia syndrome
def: "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." [Orphanet:2890]
subset: ordo_malformation_syndrome {source="Orphanet:2890"}
xref: Orphanet:2890 {source="MONDO:equivalentTo"}
xref: UMLS:C2931483 {source="MONDO:equivalentTo", source="Orphanet:2890", source="ORDO:2890/e"}
is_a: MONDO:0019287 {source="Orphanet:2890"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537399
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931483
property_value: exactMatch Orphanet:2890

[Term]
id: MONDO:0017322
name: disorders of vitamin D metabolism
subset: ordo_group_of_disorders {source="Orphanet:289098"}
xref: Orphanet:289098 {source="MONDO:equivalentTo"}
xref: UMLS:CN202954 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015970 {source="Orphanet:289098"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
is_a: MONDO:0019061 {source="Orphanet:289098"} ! rare parathyroid disease and phosphocalcic metabolism anomaly
is_a: MONDO:0019705 {source="Orphanet:289098"} ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202954
property_value: exactMatch Orphanet:289098

[Term]
id: MONDO:0017323
name: hypocalcemic rickets
def: "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." [Orphanet:289103]
subset: ordo_group_of_disorders {source="Orphanet:289103"}
synonym: "Calciopenic rickets" EXACT [NCIT:C131421]
synonym: "calcium deficiency rickets" EXACT [NCIT:C131421]
xref: NCIT:C131421 {source="MONDO:equivalentTo"}
xref: Orphanet:289103 {source="MONDO:equivalentTo"}
xref: SCTID:722947004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4302195 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C4329608 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005520 {source="MONDO:cjm", source="NCIT:C131421", source="linkedlifedata"} ! rickets (disease)
is_a: MONDO:0017322 {source="Orphanet:289103"} ! disorders of vitamin D metabolism
property_value: exactMatch http://identifiers.org/snomedct/722947004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329608
property_value: exactMatch NCIT:C131421
property_value: exactMatch Orphanet:289103

[Term]
id: MONDO:0017324
name: autosomal recessive hypophosphatemic rickets
def: "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [Orphanet:289176]
subset: ordo_disease {source="Orphanet:289176"}
synonym: "ARHR" EXACT [Orphanet:289176]
synonym: "autosomal recessive hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "hereditary hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0050949 {source="MONDO:equivalentTo"}
xref: ICD10:E83.3 {source="MONDO:relatedTo", source="ORDO:289176/attributed", source="ORDO:289176/ntbt", source="Orphanet:289176"}
xref: Orphanet:289176 {source="MONDO:equivalentTo"}
xref: SCTID:90505000 {source="MONDO:kboom-pr-1.00/0.79/7.51", source="MONDO:equivalentTo"}
xref: UMLS:CN202957 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000044 {source="MONDO:Redundant", source="MONDOLEX:0017324", source="Orphanet:289176"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0006025 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal recessive disease
property_value: exactMatch DOID:0050949
property_value: exactMatch http://identifiers.org/snomedct/90505000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202957
property_value: exactMatch Orphanet:289176

[Term]
id: MONDO:0017325
name: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
def: "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." [Orphanet:289266]
subset: ordo_disease {source="Orphanet:289266"}
xref: ICD10:E72.1 {source="Orphanet:289266", source="ORDO:289266/attributed", source="ORDO:289266/ntbt"}
xref: Orphanet:289266 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:289266"} ! syndromic intellectual disability
is_a: MONDO:0020072 {source="Orphanet:289266"} ! childhood-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/omim/613971
property_value: exactMatch Orphanet:289266

[Term]
id: MONDO:0017326
name: infective dermatitis associated with HTLV-1
def: "infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms)." [Orphanet:289347]
subset: ordo_disease {source="Orphanet:289347"}
synonym: "IDH" EXACT [Orphanet:289347]
synonym: "IDH Gene family" EXACT [NCIT:C129260]
synonym: "infective dermatitis associated with human T-lymphotropic virus type 1" EXACT [Orphanet:289347]
synonym: "infective dermatitis associated with human T-lymphotropic virus type I" EXACT [Orphanet:289347]
synonym: "isocitrate dehydrogenase Gene family" EXACT [NCIT:C129260]
xref: ICD10:L30.3 {source="Orphanet:289347", source="ORDO:289347/ntbt"}
xref: NCIT:C129260 {source="MONDO:equivalentTo"}
xref: Orphanet:289347 {source="MONDO:equivalentTo"}
xref: UMLS:CN202966 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:289347"} ! viral infectious disease
is_a: MONDO:0019546 {source="Orphanet:289347"} ! other acquired skin disease
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202966
property_value: exactMatch NCIT:C129260
property_value: exactMatch Orphanet:289347

[Term]
id: MONDO:0017327
name: primary non-gestational choriocarcinoma of ovary
def: "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism." [Orphanet:289356]
subset: ordo_disease {source="Orphanet:289356"}
synonym: "NGCO" EXACT [Orphanet:289356]
synonym: "primary non-gestational ovarian choriocarcinoma" EXACT [Orphanet:289356]
xref: ICD10:C56 {source="Orphanet:289356", source="ORDO:289356/ntbt"}
xref: Orphanet:289356 {source="MONDO:equivalentTo"}
xref: SCTID:716588005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274424 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202967 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018171 {source="Orphanet:289356", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant germ cell tumor of ovary
property_value: exactMatch http://identifiers.org/snomedct/716588005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274424
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202967
property_value: exactMatch Orphanet:289356

[Term]
id: MONDO:0017328
name: non-central nervous system-localized embryonal carcinoma
subset: ordo_clinical_subtype {source="Orphanet:289362"}
synonym: "non-CNS-localized embryonal carcinoma" EXACT [Orphanet:289362]
xref: ICD10:C22.7 {source="ORDO:289362/ntbt", source="Orphanet:289362"}
xref: Orphanet:289362 {source="MONDO:equivalentTo"}
xref: UMLS:CN202968 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005440 {source="Orphanet:289362"} ! embryonal carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202968
property_value: exactMatch Orphanet:289362

[Term]
id: MONDO:0017329
name: familial vesicoureteral reflux
def: "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." [Orphanet:289365]
subset: ordo_malformation_syndrome {source="Orphanet:289365"}
synonym: "familial VUR" EXACT [Orphanet:289365]
synonym: "hereditary vesicoureteral reflux (disease)" EXACT [MONDO:patterns/hereditary]
xref: ICD10:N13.7 {source="Orphanet:289365", source="ORDO:289365/attributed", source="ORDO:289365/ntbt"}
xref: Orphanet:289365 {source="MONDO:equivalentTo"}
xref: SCTID:763716008 {source="MONDO:equivalentTo"}
xref: UMLS:CN202969 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006007 ! vesicoureteral reflux (disease)
is_a: MONDO:0015934 {source="Orphanet:289365"} ! non-syndromic urogenital tract malformation of male and female
is_a: MONDO:0021145 {source="MONDO:Redundant", source="Orphanet:289365", source="Orphanet:289365/inferred"} ! disease of genitourinary system
intersection_of: MONDO:0006007 ! vesicoureteral reflux (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/763716008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202969
property_value: exactMatch Orphanet:289365

[Term]
id: MONDO:0017330
name: malignancy diagnosed during pregnancy
subset: ordo_clinical_situation {source="Orphanet:289385"}
synonym: "cancer diagnosed during pregnancy" EXACT [Orphanet:289385]
xref: Orphanet:289385 {source="MONDO:equivalentTo"}
xref: UMLS:CN227116 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0024575 {source="Orphanet:289385"} ! pregnancy disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227116
property_value: exactMatch Orphanet:289385

[Term]
id: MONDO:0017331
name: Pilotto syndrome
def: "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." [Orphanet:2894]
subset: gard_rare {source="GARD:0004368"}
subset: ordo_malformation_syndrome {source="Orphanet:2894"}
synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" RELATED [GARD:0004368]
xref: GARD:0004368 {source="MONDO:equivalentTo"}
xref: MESH:C537400 {source="Orphanet:2894", source="ORDO:2894/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2894 {source="MONDO:equivalentTo"}
xref: UMLS:C2931484 {source="Orphanet:2894", source="ORDO:2894/e", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:2894"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C537400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931484
property_value: exactMatch Orphanet:2894
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome xsd:anyURI {source="GARD:0004368"}

[Term]
id: MONDO:0017332
name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
subset: ordo_disease {source="Orphanet:289478"}
synonym: "pash syndrome" EXACT [Orphanet:289478]
xref: EFO:0009009 {source="MONDO:equivalentTo"}
xref: Orphanet:289478 {source="MONDO:equivalentTo"}
xref: UMLS:CN202977 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017370 {source="Orphanet:289478"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:289478"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202977
property_value: exactMatch Orphanet:289478

[Term]
id: MONDO:0017333
name: hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
subset: ordo_group_of_disorders {source="Orphanet:289494"}
synonym: "Pol III-related leukodystrophy" RELATED [Orphanet:289494]
xref: Orphanet:289494 {source="MONDO:equivalentTo"}
xref: UMLS:CN168056 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="MONDO:cjm", source="Orphanet:289494"} ! leukodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN168056
property_value: exactMatch Orphanet:289494

[Term]
id: MONDO:0017334
name: 12q15q21.1 microdeletion syndrome
def: "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." [Orphanet:289513]
subset: ordo_malformation_syndrome {source="Orphanet:289513"}
synonym: "Del(12)(q15)(q21.1)" EXACT [Orphanet:289513]
synonym: "deletion 12q15q21.1" EXACT [Orphanet:289513]
synonym: "monosomy 12q15q21.1" EXACT [Orphanet:289513]
xref: ICD10:Q93.5 {source="ORDO:289513/attributed", source="ORDO:289513/ntbt", source="Orphanet:289513"}
xref: Orphanet:289513 {source="MONDO:equivalentTo"}
xref: SCTID:734030009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518344 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN202984 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016877 {source="Orphanet:289513"} ! partial deletion of the long arm of chromosome 12
property_value: exactMatch http://identifiers.org/snomedct/734030009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518344
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202984
property_value: exactMatch Orphanet:289513

[Term]
id: MONDO:0017335
name: microtriplication 11q24.1
def: "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." [Orphanet:289522]
subset: ordo_malformation_syndrome {source="Orphanet:289522"}
synonym: "tetrasomy 11q24.1" EXACT [Orphanet:289522]
xref: ICD10:Q99.8 {source="Orphanet:289522", source="ORDO:289522/attributed", source="ORDO:289522/ntbt"}
xref: Orphanet:289522 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:289522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016962 {source="Orphanet:289522"} ! partial duplication of the long arm of chromosome 11
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:289522

[Term]
id: MONDO:0017336
name: fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
subset: ordo_disease {source="Orphanet:289527"}
synonym: "fatal infantile HCM due to mitochondrial complex I deficiency" EXACT [Orphanet:289527]
synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" EXACT [Orphanet:289527]
synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" EXACT [Orphanet:289527]
xref: ICD10:I42.2 {source="ORDO:289527/attributed", source="ORDO:289527/ntbt", source="Orphanet:289527"}
xref: Orphanet:289527 {source="MONDO:equivalentTo"}
is_a: MONDO:0016327 {source="Orphanet:289527"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0017718 {source="Orphanet:289527"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: exactMatch Orphanet:289527

[Term]
id: MONDO:0017337
name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
def: "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." [Orphanet:289548]
subset: ordo_disease {source="Orphanet:289548"}
xref: ICD10:E27.1 {source="ORDO:289548/attributed", source="ORDO:289548/ntbt", source="Orphanet:289548"}
xref: Orphanet:289548 {source="MONDO:equivalentTo"}
xref: SCTID:764960005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015129 {source="Orphanet:289548", source="Orphanet:289548/inferred"} ! chronic primary adrenal insufficiency
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/764960005
property_value: exactMatch Orphanet:289548

[Term]
id: MONDO:0017338
name: fatal multiple mitochondrial dysfunctions syndrome
def: "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." [Orphanet:289573]
subset: ordo_group_of_disorders {source="Orphanet:289573"}
synonym: "fatal multiple mitochondrial dysfunction syndrome" RELATED [GARD:0012632]
synonym: "MMDS" RELATED [MONDO:Lexical]
synonym: "multiple mitochondrial dysfunctions syndrome" EXACT [Orphanet:289573]
xref: GARD:0012632 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C565304 {source="MONDO:equivalentTo"}
xref: OMIMPS:605711 {source="MONDO:equivalentTo"}
xref: Orphanet:289573 {source="MONDO:equivalentTo"}
xref: SCTID:720827002 {source="MONDO:equivalentTo"}
xref: UMLS:C3502075 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN202994 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN234684 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002319 ! phosphorus metabolism disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017718 {source="Orphanet:289573"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
is_a: MONDO:0018424 {source="Orphanet:289573"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019058 {source="Orphanet:289573"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://identifiers.org/mesh/C565304
property_value: exactMatch http://identifiers.org/snomedct/720827002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202994
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN234684
property_value: exactMatch Orphanet:289573

[Term]
id: MONDO:0017339
name: exfoliative ichthyosis
def: "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." [Orphanet:289586]
subset: clingen
subset: ordo_disease {source="Orphanet:289586"}
synonym: "autosomal recessive exfoliative ichthyosis" EXACT [Orphanet:289586]
synonym: "ichthyosis exfoliativa" EXACT [Orphanet:289586]
xref: ICD10:Q80.8 {source="Orphanet:289586", source="ORDO:289586/attributed", source="ORDO:289586/ntbt"}
xref: Orphanet:289586 {source="MONDO:equivalentTo"}
xref: UMLS:C1838440 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:289586", source="MONDO:equivalentTo"}
is_a: MONDO:0017265 {source="Orphanet:289586"} ! autosomal recessive congenital ichthyosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838440
property_value: exactMatch Orphanet:289586

[Term]
id: MONDO:0017340
name: juvenile nasopharyngeal angiofibroma (disease)
def: "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." [Orphanet:289596]
subset: ordo_disease {source="Orphanet:289596"}
synonym: "JNA" EXACT [Orphanet:289596]
synonym: "juvenile nasopharyngeal angiofibroma" EXACT [MONDO:ambiguous]
synonym: "nasopharyngeal angiofibroma" EXACT [NCIT:C27479]
synonym: "nasopharyngeal juvenile angiofibroma" EXACT [NCIT:C27479]
xref: HP:0030429 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D10.6 {source="Orphanet:289596", source="MONDO:relatedTo", source="ORDO:289596/ntbt"}
xref: NCIT:C27479 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: Orphanet:289596 {source="MONDO:equivalentTo"}
xref: SCTID:716590006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1367536 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27479"}
xref: UMLS:CN202999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020035 {source="Orphanet:289596"} ! rare otorhinolaryngologic tumor
property_value: exactMatch http://identifiers.org/snomedct/716590006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367536
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202999
property_value: exactMatch NCIT:C27479
property_value: exactMatch Orphanet:289596

[Term]
id: MONDO:0017341
name: virus associated tumor
subset: ordo_group_of_disorders {source="Orphanet:289635"}
xref: Orphanet:289635 {source="MONDO:equivalentTo"}
xref: UMLS:CN203003 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="Orphanet:289635"} ! neoplasm (disease)
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0005070 ! neoplasm (disease)
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020031"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203003
property_value: exactMatch Orphanet:289635
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017342
name: Epstein-Barr virus-related tumor
subset: ordo_group_of_disorders {source="Orphanet:289638"}
synonym: "EBV-related tumor" EXACT [Orphanet:289638]
xref: Orphanet:289638 {source="MONDO:equivalentTo"}
xref: UMLS:CN203004 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017341 {source="Orphanet:289638"} ! virus associated tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203004
property_value: exactMatch Orphanet:289638

[Term]
id: MONDO:0017343
name: Epstein-Barr virus-associated malignant lymphoproliferative disorder
comment: the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV
subset: ordo_group_of_disorders {source="Orphanet:289644"}
synonym: "EBV-associated lymphoproliferative disorder" EXACT [Orphanet:289644]
xref: MedDRA:10068349 {source="Orphanet:289644", source="ORDO:289644/e"}
xref: Orphanet:289644 {source="MONDO:equivalentTo"}
xref: UMLS:C2363744 {source="Orphanet:289644", source="ORDO:289644/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017342 {source="Orphanet:289644"} ! Epstein-Barr virus-related tumor
property_value: exactMatch http://identifiers.org/meddra/10068349
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363744
property_value: exactMatch Orphanet:289644

[Term]
id: MONDO:0017344
name: Epstein-Barr virus-associated carcinoma
subset: ordo_group_of_disorders {source="Orphanet:289651"}
synonym: "EBV-associated carcinoma" EXACT [Orphanet:289651]
xref: Orphanet:289651 {source="MONDO:equivalentTo"}
is_a: MONDO:0017342 {source="Orphanet:289651"} ! Epstein-Barr virus-related tumor
property_value: exactMatch Orphanet:289651

[Term]
id: MONDO:0017345
name: Epstein-Barr virus-associated mesenchymal tumor
subset: ordo_group_of_disorders {source="Orphanet:289656"}
synonym: "EBV-associated mesenchymal tumor" EXACT [Orphanet:289656]
xref: Orphanet:289656 {source="MONDO:equivalentTo"}
xref: UMLS:CN203006 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017342 {source="Orphanet:289656"} ! Epstein-Barr virus-related tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203006
property_value: exactMatch Orphanet:289656

[Term]
id: MONDO:0017346
name: Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
def: "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." [Orphanet:289661]
subset: ordo_disease {source="Orphanet:289661"}
synonym: "age-related EBV Positive B-cell lymphoproliferative disorder" EXACT [NCIT:C80281]
synonym: "EBV Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281]
synonym: "EBV-Positive diffuse large B-cell lymphoma, NOS" EXACT [NCIT:C80281]
synonym: "EBV-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281]
synonym: "EBV-positive DLBCL of the elderly" EXACT [Orphanet:289661]
synonym: "EBV-positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281]
synonym: "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281]
synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281]
synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281]
synonym: "Senile EBV-associated B-cell lymphoproliferative disorder" EXACT [NCIT:C80281]
xref: ICD10:C83.3 {source="Orphanet:289661", source="ORDO:289661/ntbt"}
xref: ICDO:9680/3 {source="NCIT:C80281"}
xref: NCIT:C80281 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: Orphanet:289661 {source="MONDO:equivalentTo"}
xref: SCTID:716788007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C2700007 {source="MONDO:equivalentTo", source="NCIT:C80281"}
is_a: MONDO:0017343 {source="Orphanet:289661"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="NCIT:C80281", source="Orphanet:289661"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://identifiers.org/snomedct/716788007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700007
property_value: exactMatch NCIT:C80281
property_value: exactMatch Orphanet:289661

[Term]
id: MONDO:0017347
name: plasmablastic lymphoma
def: "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." [NCIT:P378]
subset: gard_rare {source="GARD:0012125"}
subset: ordo_disease {source="Orphanet:289666"}
synonym: "PBL" EXACT [Orphanet:289666]
synonym: "Plasmablastic lymphoma" EXACT [NCIT:C7224]
synonym: "PLBL" RELATED [ONCOTREE:PLBL]
xref: GARD:0012125 {source="MONDO:equivalentTo"}
xref: ICD10:C83.3 {source="Orphanet:289666", source="ORDO:289666/ntbt"}
xref: ICDO:9684/3 {source="NCIT:C7224"}
xref: ICDO:9735/3 {source="NCIT:C7224"}
xref: MedDRA:10065039 {source="Orphanet:289666", source="ORDO:289666/e"}
xref: MESH:D000069293 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C7224 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PLBL {source="MONDO:equivalentTo"}
xref: Orphanet:289666 {source="MONDO:equivalentTo"}
xref: SCTID:724648008 {source="MONDO:equivalentTo"}
xref: UMLS:C3472614 {source="NCIT:C7224", source="Orphanet:289666", source="ORDO:289666/e", source="MONDO:equivalentTo"}
is_a: MONDO:0017343 {source="Orphanet:289666"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="MESH:D000069293", source="NCIT:C7224"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://identifiers.org/meddra/10065039
property_value: exactMatch http://identifiers.org/mesh/D000069293
property_value: exactMatch http://identifiers.org/snomedct/724648008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3472614
property_value: exactMatch NCIT:C7224
property_value: exactMatch Orphanet:289666
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma xsd:anyURI {source="GARD:0012125"}

[Term]
id: MONDO:0017348
name: lymphoepithelial-like carcinoma
def: "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ." [Orphanet:289682]
subset: ordo_disease {source="Orphanet:289682"}
xref: Orphanet:289682 {source="MONDO:equivalentTo"}
is_a: MONDO:0017344 {source="Orphanet:289682"} ! Epstein-Barr virus-associated carcinoma
property_value: exactMatch Orphanet:289682

[Term]
id: MONDO:0017349
name: myopericytoma
def: "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course." [NCIT:C50401]
subset: ordo_disease {source="Orphanet:289685"}
synonym: "hemangiopericytoma" EXACT [NCIT:C50401]
synonym: "MPC" RELATED [ONCOTREE:MPC]
synonym: "solitary myofibroma" EXACT [NCIT:C50401]
xref: ICDO:8713/1 {source="NCIT:C50401"}
xref: NCIT:C50401 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: ONCOTREE:MPC {source="MONDO:equivalentTo"}
xref: Orphanet:289685 {source="MONDO:equivalentTo"}
xref: UMLS:C1302808 {source="ORDO:289685/e", source="NCIT:C50401", source="Orphanet:289685", source="MONDO:equivalentTo"}
is_a: MONDO:0002604 {source="NCIT:C50401"} ! pericytic neoplasm
is_a: MONDO:0017345 {source="Orphanet:289685"} ! Epstein-Barr virus-associated mesenchymal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302808
property_value: exactMatch NCIT:C50401
property_value: exactMatch Orphanet:289685

[Term]
id: MONDO:0017350
name: inborn disorder of tryptophan metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:289829"}
synonym: "disorder of tryptophan metabolism" RELATED [Orphanet:289829]
synonym: "inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn tryptophan metabolic process disorder" EXACT []
synonym: "rare inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of tryptophan metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E70.8 {source="ORDO:289829/inclusion", source="ORDO:289829/ntbt", source="Orphanet:289829"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:289829 {source="MONDO:equivalentTo"}
xref: SCTID:5181007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN203012 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
property_value: exactMatch http://identifiers.org/snomedct/5181007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203012
property_value: exactMatch Orphanet:289829

[Term]
id: MONDO:0017351
name: inborn disorder of lysine and hydroxylysine metabolism
subset: ordo_group_of_disorders {source="Orphanet:289832"}
synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [Orphanet:289832]
xref: ICD10:E72.3 {source="ORDO:289832/specific", source="ORDO:289832/e", source="MONDO:equivalentTo", source="Orphanet:289832"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:289832 {source="MONDO:equivalentTo"}
xref: SCTID:237929000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0037938 {source="MONDO:cjm"} ! inborn disorder of aspartate family metabolism
property_value: exactMatch http://identifiers.org/snomedct/237929000
property_value: exactMatch Orphanet:289832

[Term]
id: MONDO:0017352
name: disorder of glutamine metabolism
subset: ordo_group_of_disorders {source="Orphanet:289841"}
xref: ICD10:E72.8 {source="ORDO:289841/index", source="Orphanet:289841", source="ORDO:289841/ntbt"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:289841 {source="MONDO:equivalentTo"}
xref: SCTID:190724004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342669 {source="ORDO:289841/e", source="Orphanet:289841", source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="MONDO:Redundant", source="Orphanet:289841", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://identifiers.org/snomedct/190724004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342669
property_value: exactMatch Orphanet:289841

[Term]
id: MONDO:0017353
name: neonatal glycine encephalopathy
def: "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." [Orphanet:289857]
subset: ordo_clinical_subtype {source="Orphanet:289857"}
synonym: "classic glycine encephalopathy" EXACT [Orphanet:289857]
synonym: "neonatal NKH" EXACT [Orphanet:289857]
synonym: "neonatal non-ketotic hyperglycinemia" EXACT [Orphanet:289857]
xref: ICD10:E72.5 {source="ORDO:289857/attributed", source="ORDO:289857/ntbt", source="Orphanet:289857"}
xref: Orphanet:289857 {source="MONDO:equivalentTo"}
is_a: MONDO:0011612 {source="Orphanet:289857"} ! glycine encephalopathy
property_value: exactMatch Orphanet:289857

[Term]
id: MONDO:0017354
name: infantile glycine encephalopathy
def: "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." [Orphanet:289860]
subset: ordo_clinical_subtype {source="Orphanet:289860"}
synonym: "glycine encephalopathy of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "infantile NKH" EXACT [Orphanet:289860]
synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860]
synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: ICD10:E72.5 {source="Orphanet:289860", source="ORDO:289860/attributed", source="ORDO:289860/ntbt"}
xref: Orphanet:289860 {source="MONDO:equivalentTo"}
is_a: MONDO:0011612 {source="MONDO:Redundant", source="Orphanet:289860"} ! glycine encephalopathy
property_value: exactMatch Orphanet:289860

[Term]
id: MONDO:0017355
name: inborn disorder of proline metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of proline metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:289866"}
synonym: "disorder of proline metabolism" EXACT [Orphanet:289866]
synonym: "inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn proline metabolic process disorder" EXACT []
synonym: "rare inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of proline metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E72.8 {source="ORDO:289866/attributed", source="ORDO:289866/ntbt", source="Orphanet:289866"}
xref: Orphanet:289866 {source="MONDO:equivalentTo"}
xref: UMLS:CN227118 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0019230 {source="Orphanet:289866"} ! inborn disorder of ornithine or proline metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227118
property_value: exactMatch Orphanet:289866

[Term]
id: MONDO:0017356
name: inborn disorder of ornithine metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:289869"}
synonym: "disorder of ornithine metabolism" EXACT [Orphanet:289869]
synonym: "inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn ornithine metabolic process disorder" EXACT []
synonym: "rare inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of ornithine metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E72.4 {source="ORDO:289869/e", source="Orphanet:289869", source="ORDO:289869/specific"}
xref: Orphanet:289869 {source="MONDO:equivalentTo"}
xref: SCTID:237928008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342690 {source="MONDO:equivalentTo", source="ORDO:289869/e", source="Orphanet:289869"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0019230 {source="Orphanet:289869"} ! inborn disorder of ornithine or proline metabolism
property_value: exactMatch http://identifiers.org/snomedct/237928008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342690
property_value: exactMatch Orphanet:289869

[Term]
id: MONDO:0017357
name: transient hyperammonemia of the newborn
subset: ordo_clinical_situation {source="Orphanet:289877"}
xref: ICD10:P74.8 {source="ORDO:289877/ntbt", source="Orphanet:289877"}
xref: Orphanet:289877 {source="MONDO:equivalentTo"}
xref: UMLS:CN203020 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0019058 {source="Orphanet:289877"} ! neurometabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203020
property_value: exactMatch Orphanet:289877

[Term]
id: MONDO:0017358
name: obsolete organic aciduria
is_obsolete: true
replaced_by: MONDO:0000688

[Term]
id: MONDO:0017359
name: 3-methylglutaconic aciduria
def: "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." [NCIT:C98678]
subset: ordo_group_of_disorders {source="Orphanet:289902"}
xref: DOID:0060336 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="ORDO:289902/attributed", source="ORDO:289902/ntbt", source="DOID:0060336", source="Orphanet:289902"}
xref: ICD10:E71.111 {source="DOID:0060336", source="MONDO:equivalentTo"}
xref: MESH:C579867 {source="DOID:0060336", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98678 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:250950 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:289902 {source="DOID:0060336", source="MONDO:equivalentTo"}
xref: SCTID:237950009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3696376 {source="MONDO:equivalentTo", source="Orphanet:289902", source="NCIT:C98678"}
is_a: MONDO:0019215 {source="Orphanet:289902"} ! classic organic aciduria
property_value: exactMatch DOID:0060336
property_value: exactMatch http://identifiers.org/mesh/C579867
property_value: exactMatch http://identifiers.org/snomedct/237950009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3696376
property_value: exactMatch NCIT:C98678
property_value: exactMatch Orphanet:289902

[Term]
id: MONDO:0017360
name: vitamin B12-unresponsive methylmalonic acidemia type mut0
def: "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:289916]
subset: ordo_clinical_subtype {source="Orphanet:289916"}
synonym: "complete deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:289916]
synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut0" EXACT [Orphanet:289916]
xref: ICD10:E71.1 {source="Orphanet:289916", source="ORDO:289916/attributed", source="ORDO:289916/ntbt"}
xref: Orphanet:289916 {source="MONDO:equivalentTo"}
xref: SCTID:237945003 {source="MONDO:equivalentTo"}
xref: UMLS:CN203025 {source="MONDO:equivalentTo"}
is_a: MONDO:0009612 {source="Orphanet:289916"} ! methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
property_value: exactMatch http://identifiers.org/snomedct/237945003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203025
property_value: exactMatch Orphanet:289916

[Term]
id: MONDO:0017361
name: congenital rubella syndrome
def: "Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." [Orphanet:290]
subset: ordo_disease {source="Orphanet:290"}
synonym: "CRS" EXACT [Orphanet:290]
synonym: "fetal rubella syndrome" EXACT [Orphanet:290]
synonym: "mother-to-child transmission of rubella syndrome" EXACT [Orphanet:290]
synonym: "Rubella congenital" RELATED [GARD:0004744]
xref: COHD:433869 {source="MONDO:equivalentTo"}
xref: GARD:0004744 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P35.0 {source="ORDO:290/e", source="Orphanet:290", source="MONDO:equivalentTo"}
xref: ICD9:771.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10010618 {source="ORDO:290/e", source="Orphanet:290"}
xref: MESH:D012410 {source="ORDO:290/e", source="Orphanet:290", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:290 {source="MONDO:equivalentTo"}
xref: SCTID:1857005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.20"}
xref: UMLS:C0035921 {source="ORDO:290/e", source="Orphanet:290", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015659 {source="Orphanet:290"} ! infectious disease with epilepsy
is_a: MONDO:0016511 {source="Orphanet:290"} ! infectious embryofetopathy
property_value: exactMatch http://identifiers.org/meddra/10010618
property_value: exactMatch http://identifiers.org/mesh/D012410
property_value: exactMatch http://identifiers.org/snomedct/1857005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035921
property_value: exactMatch Orphanet:290

[Term]
id: MONDO:0017362
name: neuralgic amyotrophy
def: "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." [Orphanet:2901]
subset: ordo_disease {source="Orphanet:2901"}
synonym: "acute brachial plexus neuritis" EXACT [Orphanet:2901]
synonym: "brachial plexus neuritis" EXACT [Orphanet:2901]
synonym: "immune brachial plexus neuropathy" EXACT [Orphanet:2901]
synonym: "mononeuritis multiplex with brachial predilection" EXACT [Orphanet:2901]
synonym: "neuralgic shoulder amyotrophy" EXACT [Orphanet:2901]
xref: COHD:377271 {source="MONDO:equivalentTo"}
xref: ICD10:G54.5 {source="ORDO:2901/ntbt", source="Orphanet:2901"}
xref: MedDRA:10063020 {source="ORDO:2901/e", source="Orphanet:2901"}
xref: Orphanet:2901 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:2901"} ! acquired peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510479
property_value: exactMatch http://identifiers.org/meddra/10063020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221759
property_value: exactMatch Orphanet:2901

[Term]
id: MONDO:0017363
name: idiopathic chronic eosinophilic pneumonia
def: "Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." [Orphanet:2902]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2902"}
synonym: "Carrington syndrome" RELATED [GARD:0001130]
synonym: "Carrington's disease" RELATED [GARD:0001130]
synonym: "Carrington's pulmonary eosinophilia" RELATED [GARD:0001130]
synonym: "chronic eosinophilic pneumonia" EXACT [Orphanet:2902]
synonym: "chronic eosinophilic pneumonia (CEP)" RELATED [GARD:0001130]
synonym: "chronic idiopathic eosinophilic pneumonia" RELATED [GARD:0001130]
synonym: "eosinophilic idiopathic chronic pneumopathy" RELATED [GARD:0001130]
xref: GARD:0001130 {source="MONDO:equivalentTo"}
xref: ICD10:J82 {source="ORDO:2902/ntbt", source="Orphanet:2902"}
xref: MESH:C535590 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2902 {source="MONDO:equivalentTo"}
is_a: MONDO:0000771 {source="Orphanet:2902"} ! allergic respiratory disease
is_a: MONDO:0015927 {source="Orphanet:2902"} ! idiopathic eosinophilic pneumonia
relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008680
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930941
property_value: exactMatch http://identifiers.org/mesh/C535590
property_value: exactMatch Orphanet:2902

[Term]
id: MONDO:0017364
name: POEMS syndrome
def: "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." [Orphanet:2905, PMID:23398538]
comment: POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. {source="https://www.jacionline.org/article/S0091-6749(02)91343-6/fulltext"}
subset: ordo_disease {source="Orphanet:2905"}
synonym: "Crow-Fukase syndrome" EXACT [Orphanet:2905]
synonym: "osteosclerotic myeloma" EXACT [Orphanet:2905]
synonym: "PEP syndrome" EXACT [Orphanet:2905]
synonym: "POEMS syndrome" EXACT [NCIT:C80303]
synonym: "polyneuropathy organomegaly" RELATED [GARD:0007411]
synonym: "polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome" RELATED [GARD:0007411]
synonym: "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" EXACT [Orphanet:2905]
synonym: "Takatsuki syndrome" EXACT [Orphanet:2905]
xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"}
xref: EFO:1001115 {source="MONDO:equivalentTo"}
xref: GARD:0007411 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D47.7 {source="ORDO:2905/ntbt", source="Orphanet:2905"}
xref: MedDRA:10053869 {source="EFO:1001115", source="ORDO:2905/e", source="Orphanet:2905"}
xref: MESH:D016878 {source="MONDO:equivalentTo", source="EFO:1001115", source="MONDO:ontobio", source="ORDO:2905/e", source="DOID:14039", source="Orphanet:2905"}
xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="exact-label-match", source="DOID:14039"}
xref: Orphanet:2905 {source="MONDO:equivalentTo"}
xref: SCTID:79268002 {source="MONDO:kboom-pr-0.91/0.76/0.72", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039"}
xref: UMLS:C0085404 {source="NCIT:C80303", source="MONDO:equivalentTo", source="ORDO:2905/e", source="DOID:14039", source="Orphanet:2905"}
is_a: MONDO:0002254 {source="MONDOLEX:0017364", source="NCIT:C80303"} ! syndromic disease
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0016169 {source="Orphanet:2905"} ! chronic acquired demyelinating polyneuropathy
is_a: MONDO:0016178 {source="Orphanet:2905"} ! peripheral neuropathy associated with monoclonal gammopathy
is_a: MONDO:0016180 {source="Orphanet:2905"} ! hematological disease associated with an acquired peripheral neuropathy
relationship: disease_has_feature MONDO:0004959 {source="Orphanet:2905"} ! plasma cell neoplasm
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:14039"} ! type IV hypersensitivity disease
property_value: exactMatch DOID:14039
property_value: exactMatch http://identifiers.org/meddra/10053869
property_value: exactMatch http://identifiers.org/mesh/D016878
property_value: exactMatch http://identifiers.org/snomedct/79268002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510415
property_value: exactMatch NCIT:C80303
property_value: exactMatch Orphanet:2905

[Term]
id: MONDO:0017365
name: hereditary acrokeratotic poikiloderma, Weary type
subset: ordo_clinical_subtype {source="Orphanet:2907"}
synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907]
xref: ICD10:Q82.8 {source="Orphanet:2907", source="ORDO:2907/attributed", source="ORDO:2907/ntbt"}
xref: Orphanet:2907 {source="MONDO:equivalentTo"}
is_a: MONDO:0008260 {source="Orphanet:2907"} ! Kindler syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406556
property_value: exactMatch Orphanet:2907

[Term]
id: MONDO:0017366
name: hereditary pheochromocytoma-paraganglioma
def: "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." [Orphanet:29072]
subset: clingen
subset: gard_rare {source="GARD:0011984"}
subset: ordo_disease {source="Orphanet:29072"}
synonym: "familial pheochromocytoma-paraganglioma" EXACT [Orphanet:29072]
synonym: "hereditary paraganglioma-pheochromocytoma" RELATED [GARD:0011984]
synonym: "SDHx-related paraganglioma-pheochromocytoma" RELATED [GARD:0011984]
xref: GARD:0011984 {source="MONDO:equivalentTo"}
xref: ICD10:C74.1 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"}
xref: ICD10:C75.5 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"}
xref: ICD10:D35.0 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"}
xref: ICD10:D35.6 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"}
xref: Orphanet:29072 {source="MONDO:equivalentTo"}
xref: UMLS:C1708353 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019116 {source="Orphanet:29072"} ! catecholamine-producing tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708353
property_value: exactMatch Orphanet:29072
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma xsd:anyURI {source="GARD:0011984"}

[Term]
id: MONDO:0017367
name: obsolete kindler syndrome
is_obsolete: true
replaced_by: MONDO:0008260

[Term]
id: MONDO:0017368
name: systemic disease with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:290836"}
xref: Orphanet:290836 {source="MONDO:equivalentTo"}
xref: UMLS:CN203041 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015938 ! systemic disease
intersection_of: MONDO:0015938 ! systemic disease
intersection_of: disease_has_feature MONDO:0005093 ! skin disease
relationship: disease_has_feature MONDO:0005093 ! skin disease
relationship: excluded_subClassOf MONDO:0019519 {source="Orphanet:290836"} ! obsolete rare skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203041
property_value: exactMatch Orphanet:290836

[Term]
id: MONDO:0017369
name: autoinflammatory syndrome with immune deficiency
subset: ordo_group_of_disorders {source="Orphanet:290839"}
xref: Orphanet:290839 {source="MONDO:equivalentTo"}
xref: UMLS:CN203042 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015135 {source="Orphanet:290839"} ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0019751 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0017369"} ! autoinflammatory syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0019751 ! autoinflammatory syndrome
intersection_of: disease_has_feature MONDO:0003778 ! primary immunodeficiency disease
relationship: disease_has_feature MONDO:0003778 ! primary immunodeficiency disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203042
property_value: exactMatch Orphanet:290839

[Term]
id: MONDO:0017370
name: autoinflammatory syndrome with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:290842"}
xref: Orphanet:290842 {source="MONDO:equivalentTo"}
xref: UMLS:CN203043 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017368 {source="Orphanet:290842"} ! systemic disease with skin involvement
is_a: MONDO:0019751 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0017370"} ! autoinflammatory syndrome
intersection_of: MONDO:0019751 ! autoinflammatory syndrome
intersection_of: disease_has_feature MONDO:0005093 ! skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203043
property_value: exactMatch Orphanet:290842

[Term]
id: MONDO:0017371
name: obsolete rare head and neck tumor
def: "Rare head and neck neoplasia." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:290849"}
synonym: "rare head and neck neoplasia" EXACT [MONDO:patterns/rare]
synonym: "rare head and neck neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:290849 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:290849
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005586
consider: UMLS:C0018671 {source="MONDO:relatedTo", source="Orphanet:290849"}

[Term]
id: MONDO:0017372
name: congenital varicella syndrome
def: "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." [Orphanet:291]
subset: gard_rare {source="GARD:0000045"}
subset: ordo_disease {source="Orphanet:291"}
synonym: "antenatal varicella virus infection" EXACT [Orphanet:291]
synonym: "fetal effects of chickenpox" RELATED [GARD:0000045]
synonym: "fetal effects of varicella zoster virus" RELATED [GARD:0000045]
synonym: "fetal varicella infection" RELATED [GARD:0000045]
synonym: "fetal varicella zoster syndrome" RELATED [GARD:0000045]
synonym: "mother-to-child transmission of varicella syndrome" EXACT [Orphanet:291]
synonym: "Varicella embryopathy" RELATED [GARD:0000045]
synonym: "Varicella virus antenatal infection" RELATED [GARD:0000045]
xref: GARD:0000045 {source="MONDO:equivalentTo"}
xref: ICD10:P35.8 {source="ORDO:291/e", source="Orphanet:291"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116800 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:291 {source="MONDO:equivalentTo"}
xref: SCTID:277644009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343560 {source="GARD:0000045", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0017372", source="NCIT:C116800"} ! syndromic disease
is_a: MONDO:0005608 ! varicella zoster infection
is_a: MONDO:0042971 ! congenital herpes virus infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4275251
property_value: exactMatch http://identifiers.org/snomedct/277644009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343560
property_value: exactMatch NCIT:C116800
property_value: exactMatch Orphanet:291
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome xsd:anyURI {source="GARD:0000045"}

[Term]
id: MONDO:0017373
name: poliomyelitis
def: "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." [NCIT:C35550]
subset: ordo_disease {source="Orphanet:2912"}
synonym: "acute poliomyelitis" EXACT [MONDO:cjm, NCIT:C35550]
synonym: "infantile paralysis" RELATED [GARD:0007413]
synonym: "Polia" EXACT [NCIT:C35550]
synonym: "polio" EXACT [MESH:D011051, NCIT:C35550]
synonym: "poliomyelitis" EXACT [MONDO:0005926, NCIT:C35550]
xref: COHD:378679 {source="MONDO:equivalentTo"}
xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"}
xref: EFO:0007450 {source="MONDO:equivalentTo"}
xref: GARD:0007413 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A80 {source="DOID:4953"}
xref: ICD10:A80.0 {source="ORDO:2912/btnt", source="Orphanet:2912"}
xref: ICD10:A80.1 {source="ORDO:2912/btnt", source="Orphanet:2912"}
xref: ICD10:A80.2 {source="ORDO:2912/btnt", source="Orphanet:2912"}
xref: ICD10:A80.3 {source="ORDO:2912/btnt", source="Orphanet:2912"}
xref: ICD10:A80.4 {source="ORDO:2912/btnt", source="MONDO:superClassOf", source="Orphanet:2912"}
xref: ICD10:A80.9 {source="ORDO:2912/btnt", source="DOID:4953", source="Orphanet:2912"}
xref: ICD9:045 {source="DOID:4953"}
xref: ICD9:045.9 {source="DOID:4953"}
xref: ICD9:045.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:045.92 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036012 {source="ORDO:2912/e", source="Orphanet:2912"}
xref: MESH:D011051 {source="MONDO:equivalentTo", source="DOID:4953", source="ORDO:2912/e", source="EFO:0007450", source="Orphanet:2912"}
xref: NCIT:C35550 {source="MONDO:equivalentTo", source="DOID:4953"}
xref: Orphanet:2912 {source="MONDO:equivalentTo"}
xref: SCTID:398102009 {source="MONDO:equivalentTo", source="DOID:4953", source="MONDO:kboom-pr-0.73/0.44/0.14"}
xref: UMLS:C0032371 {source="NCIT:C35550", source="MONDO:equivalentTo", source="DOID:4953", source="ORDO:2912/e", source="Orphanet:2912"}
is_a: MONDO:0002565 {source="MESH:D011051"} ! myelitis
is_a: MONDO:0003182 {source="https://en.wikipedia.org/wiki/Anterior_horn_disease"} ! anterior horn disease
is_a: MONDO:0020129 {source="Orphanet:2912"} ! acquired motor neuron disease
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0024318 {source="MONDO:Redundant", source="linkedlifedata"} ! viral infection of central nervous system
is_a: MONDO:0024618 {source="MONDO:Redundant", source="linkedlifedata"} ! poliovirus infection
property_value: closeMatch http://identifiers.org/snomedct/154320008
property_value: closeMatch http://identifiers.org/snomedct/186475007
property_value: closeMatch http://identifiers.org/snomedct/186481004
property_value: closeMatch http://identifiers.org/snomedct/187390004
property_value: closeMatch http://identifiers.org/snomedct/266189002
property_value: closeMatch http://identifiers.org/snomedct/367318001
property_value: closeMatch http://identifiers.org/snomedct/398256009
property_value: closeMatch http://identifiers.org/snomedct/54839009
property_value: exactMatch DOID:4953
property_value: exactMatch http://identifiers.org/meddra/10036012
property_value: exactMatch http://identifiers.org/mesh/D011051
property_value: exactMatch http://identifiers.org/snomedct/398102009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032371
property_value: exactMatch NCIT:C35550
property_value: exactMatch Orphanet:2912

[Term]
id: MONDO:0017374
name: obsolete polydactyly
is_obsolete: true
replaced_by: MONDO:0011348

[Term]
id: MONDO:0017375
name: congenital enterovirus infection
def: "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." [Orphanet:292]
subset: ordo_disease {source="Orphanet:292"}
synonym: "antenatal enterovirus infection" EXACT [Orphanet:292]
synonym: "congenital enterovirus infection" EXACT []
synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern, MONDO:patterns/congenital]
synonym: "congenital infection caused by enterovirus" EXACT []
synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292]
xref: ICD10:P35.8 {source="ORDO:292/ntbt", source="Orphanet:292"}
xref: Orphanet:292 {source="MONDO:equivalentTo"}
xref: SCTID:716865000 {source="MONDO:kboom-pr-1.00/0.75/7.09", source="MONDO:equivalentTo"}
xref: UMLS:C4274223 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005747 ! enterovirus infectious disease
is_a: MONDO:0016511 {source="Orphanet:292"} ! infectious embryofetopathy
intersection_of: MONDO:0005747 ! enterovirus infectious disease
intersection_of: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch http://identifiers.org/snomedct/716865000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274223
property_value: exactMatch Orphanet:292

[Term]
id: MONDO:0017376
name: reactive arthritis
def: "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." [Orphanet:29207]
subset: gard_rare {source="GARD:0005693"}
subset: ordo_disease {source="Orphanet:29207"}
synonym: "arthritis urethritica" EXACT [Orphanet:29207]
synonym: "Fiessinger Leroy Reiter syndrome" EXACT DEPRECATED [CSP2005:0944-8011, DOID:6196]
synonym: "Fiessinger-Leroy disease" EXACT [Orphanet:29207]
synonym: "Fiessinger-Leroy-Reiter syndrome" EXACT DEPRECATED [Orphanet:29207]
synonym: "PIRA" RELATED [GARD:0005693]
synonym: "polyarthritis enterica" EXACT [Orphanet:29207]
synonym: "post-bacterial arthropathy" EXACT [DOID:6196]
synonym: "post-infectious arthritis" RELATED [GARD:0005693]
synonym: "post-infectious reactive arthropathy" RELATED [GARD:0005693]
synonym: "postdysenteric arthropathy" EXACT [DOID:6196]
synonym: "reactive arthritis" EXACT [DOID:6196]
synonym: "Reiter disease" EXACT DEPRECATED [DOID:6196, Orphanet:29207]
synonym: "Reiter syndrome" EXACT DEPRECATED [Orphanet:29207]
synonym: "Reiter's disease" EXACT DEPRECATED [DOID:6196, ICD9CM_2006:099.3]
synonym: "Reiter's syndrome" EXACT DEPRECATED [GARD:0005693]
synonym: "venereal arthritis" EXACT [Orphanet:29207]
xref: COHD:78357 {source="MONDO:equivalentTo"}
xref: DOID:6196 {source="MONDO:equivalentTo", source="EFO:0007460"}
xref: EFO:0007460 {source="MONDO:equivalentTo"}
xref: GARD:0005693 {source="MONDO:equivalentTo"}
xref: ICD10:M02.1 {source="DOID:6196"}
xref: ICD10:M02.10 {source="DOID:6196"}
xref: ICD10:M02.3 {source="DOID:6196", source="Orphanet:29207"}
xref: ICD10:M02.30 {source="DOID:6196"}
xref: ICD10:M02.8 {source="ORDO:29207/e"}
xref: ICD9:099.3 {source="DOID:6196"}
xref: ICD9:711.3 {source="DOID:6196"}
xref: ICD9:711.30 {source="DOID:6196"}
xref: ICD9:711.40 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10003267 {source="ORDO:29207/e", source="Orphanet:29207"}
xref: MedDRA:10038294 {source="ORDO:29207/e", source="Orphanet:29207"}
xref: MESH:D016918 {source="MONDO:equivalentTo", source="DOID:6196", source="ORDO:29207/e", source="EFO:0007460", source="MONDO:ontobio", source="Orphanet:29207"}
xref: NCIT:C128332 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: Orphanet:29207 {source="MONDO:equivalentTo"}
xref: SCTID:129133005 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0035012 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="DOID:6196", source="ORDO:29207/e", source="Orphanet:29207"}
xref: UMLS:C0085435 {source="NCIT:C128332", source="MONDO:equivalentTo", source="ORDO:29207/e", source="Orphanet:29207"}
xref: UMLS:CN203069 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005578 {source="DOID:6196", source="EFO:0007460", source="MESH:D016918/inferred", source="MONDOLEX:0017376", source="NCIT:C128332"} ! arthritis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154389006
property_value: closeMatch http://identifiers.org/snomedct/154390002
property_value: closeMatch http://identifiers.org/snomedct/201496000
property_value: closeMatch http://identifiers.org/snomedct/201506009
property_value: closeMatch http://identifiers.org/snomedct/266212009
property_value: closeMatch http://identifiers.org/snomedct/56528004
property_value: closeMatch http://identifiers.org/snomedct/67224007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152085
property_value: closeMatch NCIT:C34975
property_value: exactMatch DOID:6196
property_value: exactMatch http://identifiers.org/meddra/10003267
property_value: exactMatch http://identifiers.org/meddra/10038294
property_value: exactMatch http://identifiers.org/mesh/D016918
property_value: exactMatch http://identifiers.org/snomedct/129133005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203069
property_value: exactMatch NCIT:C128332
property_value: exactMatch Orphanet:29207
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis xsd:anyURI {source="GARD:0005693"}

[Term]
id: MONDO:0017377
name: preaxial polydactyly-colobomata-intellectual disability syndrome
def: "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." [Orphanet:2921]
subset: ordo_malformation_syndrome {source="Orphanet:2921"}
synonym: "Pfeiffer Mayer syndrome" RELATED [GARD:0004304]
synonym: "Pfeiffer-Mayer syndrome" EXACT [Orphanet:2921]
synonym: "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" RELATED [GARD:0004304]
xref: GARD:0004304 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="ORDO:2921/attributed", source="ORDO:2921/ntbt", source="Orphanet:2921"}
xref: MESH:C537888 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:2921 {source="MONDO:equivalentTo"}
xref: SCTID:733088002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931655 {source="MONDO:equivalentTo", source="ORDO:2921/e", source="Orphanet:2921"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2921", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2921"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537888
property_value: exactMatch http://identifiers.org/snomedct/733088002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931655
property_value: exactMatch Orphanet:2921

[Term]
id: MONDO:0017378
name: polymicrogyria-turricephaly-hypogenitalism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2925"}
xref: ICD10:Q87.8 {source="ORDO:2925/attributed", source="ORDO:2925/ntbt", source="Orphanet:2925"}
xref: Orphanet:2925 {source="MONDO:equivalentTo"}
xref: UMLS:CN227120 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:2925"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227120
property_value: exactMatch Orphanet:2925

[Term]
id: MONDO:0017379
name: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
def: "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." [Orphanet:2928]
comment: Editor note: awaiting HPO
subset: ordo_malformation_syndrome {source="Orphanet:2928"}
synonym: "Lundberg syndrome" EXACT [Orphanet:2928]
synonym: "polyneuropathy - intellectual deficit - acromicria - premature menopause" RELATED [GARD:0004424]
synonym: "polyneuropathy mental retardation acromicria premature menopause" RELATED [GARD:0004424]
xref: GARD:0004424 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2928/attributed", source="ORDO:2928/ntbt", source="Orphanet:2928"}
xref: Orphanet:2928 {source="MONDO:equivalentTo"}
xref: UMLS:CN203094 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:2928"} ! syndromic intellectual disability
relationship: disease_has_feature MONDO:0001119 ! premature menopause
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203094
property_value: exactMatch Orphanet:2928

[Term]
id: MONDO:0017380
name: juvenile polyposis syndrome
def: "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." [Orphanet:2929]
subset: ordo_disease {source="Orphanet:2929"}
synonym: "JIP" EXACT [Orphanet:2929]
synonym: "jPS" EXACT [Orphanet:2929]
synonym: "juvenile gastrointestinal polyposis" EXACT [Orphanet:2929]
synonym: "juvenile intestinal polyposis" EXACT [Orphanet:2929]
synonym: "juvenile multiple polyps syndrome" EXACT [NCIT:C7754]
synonym: "juvenile polyposis" EXACT [NCIT:C7754]
synonym: "juvenile polyposis syndrome" EXACT [NCIT:C7754]
synonym: "PJI" RELATED [GARD:0003065]
synonym: "polyposis familial of entire gastrointestinal tract" RELATED [GARD:0003065]
synonym: "polyposis juvenile intestinal" RELATED [GARD:0003065]
xref: GARD:0003065 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D12.6 {source="Orphanet:2929", source="ORDO:2929/attributed", source="ORDO:2929/ntbt"}
xref: NCIT:C7754 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:2929 {source="MONDO:equivalentTo"}
xref: SCTID:9273005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN239474 {source="MONDO:equivalentTo"}
is_a: MONDO:0015185 {source="Orphanet:2929", source="linkedlifedata"} ! intestinal polyposis syndrome
is_a: MONDO:0018188 {source="Orphanet:2929"} ! genetic intestinal polyposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345893
property_value: exactMatch http://identifiers.org/snomedct/9273005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239474
property_value: exactMatch NCIT:C7754
property_value: exactMatch Orphanet:2929

[Term]
id: MONDO:0017381
name: congenital herpes simplex virus infection
alt_id: MONDO:0022267
def: "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent." [Orphanet:293]
subset: gard_rare
subset: ordo_disease {source="Orphanet:293"}
synonym: "antenatal herpes simplex virus infection" EXACT [Orphanet:293]
synonym: "congenital herpes simplex" EXACT []
synonym: "congenital herpes simplex infection" RELATED []
synonym: "mother-to-child transmission of herpes simplex virus infection" EXACT [Orphanet:293]
synonym: "neonatal herpes simplex" RELATED []
synonym: "neonatal herpes simplex virus infection" RELATED [GARD:0007173]
synonym: "neonatal HSV infection" RELATED [GARD:0007173]
synonym: "Simplexvirus caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus infectious embryofetopathy" EXACT []
xref: GARD:0001486 {source="MONDO:equivalentTo"}
xref: GARD:0007173 {source="MONDO:equivalentTo"}
xref: ICD10:P35.2 {source="ORDO:293/ntbt", source="Orphanet:293"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:293 {source="MONDO:equivalentTo"}
xref: SCTID:91576008 {source="MONDO:equivalentTo"}
xref: UMLS:C0276225 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001486", source="MONDO:equivalentTo"}
is_a: MONDO:0004609 ! herpes simplex infectious disease
is_a: MONDO:0042971 ! congenital herpes virus infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931185
property_value: exactMatch http://identifiers.org/snomedct/91576008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276225
property_value: exactMatch Orphanet:293
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex xsd:anyURI {source="GARD:0001486"}

[Term]
id: MONDO:0017382
name: familial clubfoot due to 5q31 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:293144"}
synonym: "hereditary clubfoot due to 5q31 microdeletion" EXACT [Orphanet:293144]
xref: ICD10:Q66.8 {source="ORDO:293144/attributed", source="ORDO:293144/ntbt", source="Orphanet:293144"}
xref: Orphanet:293144 {source="MONDO:equivalentTo"}
xref: UMLS:CN203109 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007342 ! clubfoot
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203109
property_value: exactMatch Orphanet:293144

[Term]
id: MONDO:0017383
name: familial clubfoot due to PITX1 point mutation
subset: ordo_etiological_subtype {source="Orphanet:293150"}
synonym: "hereditary clubfoot due to PITX1 point mutation" EXACT [Orphanet:293150]
xref: ICD10:Q66.8 {source="Orphanet:293150", source="ORDO:293150/attributed", source="ORDO:293150/ntbt"}
xref: Orphanet:293150 {source="MONDO:equivalentTo"}
xref: UMLS:CN203110 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007342 ! clubfoot
is_a: MONDO:0019712 {source="Orphanet:293150"} ! patellar dysostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203110
property_value: exactMatch Orphanet:293150

[Term]
id: MONDO:0017384
name: acute generalized exanthematous pustulosis
def: "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." [NCIT:P378]
subset: ordo_disease {source="Orphanet:293173"}
synonym: "AGEP" EXACT [Orphanet:293173]
synonym: "pustular drug eruption" EXACT [Orphanet:293173]
synonym: "toxic pustuloderma" EXACT [Orphanet:293173]
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048799 {source="Orphanet:293173", source="ORDO:293173/e"}
xref: MESH:D056150 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C112122 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:293173 {source="MONDO:equivalentTo"}
xref: SCTID:702617007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: UMLS:C0877055 {source="Orphanet:293173", source="ORDO:293173/e", source="MONDO:equivalentTo", source="NCIT:C112122"}
is_a: MONDO:0002406 {source="MESH:D056150/inferred", source="NCIT:C112122"} ! dermatitis
is_a: MONDO:0017396 {source="Orphanet:293173"} ! toxic dermatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0853331
property_value: exactMatch http://identifiers.org/meddra/10048799
property_value: exactMatch http://identifiers.org/mesh/D056150
property_value: exactMatch http://identifiers.org/snomedct/702617007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877055
property_value: exactMatch NCIT:C112122
property_value: exactMatch Orphanet:293173

[Term]
id: MONDO:0017385
name: malignant migrating partial seizures of infancy
def: "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." [NCIT:C125387]
subset: ordo_disease {source="Orphanet:293181"}
synonym: "malignant migrating partial epilepsy of infancy" EXACT [Orphanet:293181]
synonym: "malignant migrating Partial seizures in infancy" EXACT [NCIT:C125387]
synonym: "migrating partial epilepsy of infancy" EXACT [Orphanet:293181]
synonym: "migrating Partial seizures in infancy" EXACT [NCIT:C125387]
synonym: "migrating partial seizures of infancy" EXACT [Orphanet:293181]
synonym: "MMPEI" EXACT [Orphanet:293181]
synonym: "MMPSI" EXACT [Orphanet:293181]
synonym: "MPEI" EXACT [Orphanet:293181]
synonym: "MPSI" BROAD [Orphanet:293181]
xref: GARD:0012919 {source="MONDO:equivalentTo"}
xref: NCIT:C125387 {source="MONDO:equivalentTo"}
xref: Orphanet:293181 {source="MONDO:equivalentTo"}
xref: UMLS:CN203114 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN240507 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0015922 {source="Orphanet:293181"} ! channelopathy with epilepsy
is_a: MONDO:0020070 {source="Orphanet:293181"} ! neonatal epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240507
property_value: exactMatch NCIT:C125387
property_value: exactMatch Orphanet:293181

[Term]
id: MONDO:0017386
name: pleomorphic rhabdomyosarcoma
def: "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." [NCIT:C4258]
subset: ordo_disease {source="Orphanet:293199"}
synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258]
synonym: "pleomorphic rhabdomyosarcoma" EXACT [NCIT:C4258]
synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [DOID:3250]
xref: DOID:3250 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:293199/ntbt", source="Orphanet:293199"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4258 {source="MONDO:equivalentTo", source="DOID:3250", source="exact-label-match"}
xref: ONCOTREE:PLRMS {source="MONDO:equivalentTo"}
xref: Orphanet:293199 {source="MONDO:equivalentTo"}
xref: SCTID:404054005 {source="MONDO:equivalentTo", source="DOID:3250", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334480 {source="MONDO:equivalentTo", source="Orphanet:293199", source="ORDO:293199/e", source="NCIT:C4258", source="DOID:3250"}
is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:PLRMS", source="linkedlifedata"} ! rhabdomyosarcoma (disease)
property_value: closeMatch http://identifiers.org/snomedct/77455004
property_value: exactMatch DOID:3250
property_value: exactMatch http://identifiers.org/snomedct/404054005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334480
property_value: exactMatch NCIT:C4258
property_value: exactMatch Orphanet:293199

[Term]
id: MONDO:0017387
name: epithelioid sarcoma
def: "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." [NCIT:C3714]
subset: gard_rare {source="GARD:0010181"}
subset: ordo_disease {source="Orphanet:293202"}
synonym: "epithelioid cell sarcoma" EXACT [DOID:6193, NCIT:C3714]
synonym: "epithelioid sarcoma" EXACT [NCIT:C3714]
synonym: "ES" EXACT [NCIT:C3714]
xref: DOID:6193 {source="MONDO:equivalentTo"}
xref: GARD:0010181 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:293202/ntbt", source="Orphanet:293202"}
xref: ICDO:8804/3 {source="NCIT:C3714"}
xref: MedDRA:10015099 {source="ORDO:293202/e", source="Orphanet:293202"}
xref: NCIT:C3714 {source="MONDO:equivalentTo", source="DOID:6193"}
xref: ONCOTREE:EPIS {source="MONDO:equivalentTo"}
xref: Orphanet:293202 {source="MONDO:equivalentTo"}
xref: UMLS:C0205944 {source="MONDO:equivalentTo", source="ORDO:293202/e", source="DOID:6193", source="Orphanet:293202", source="NCIT:C3714"}
is_a: MONDO:0018078 {source="NCIT:C3714", source="Orphanet:293202"} ! soft tissue sarcoma
property_value: closeMatch http://identifiers.org/snomedct/59238007
property_value: exactMatch DOID:6193
property_value: exactMatch http://identifiers.org/meddra/10015099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205944
property_value: exactMatch NCIT:C3714
property_value: exactMatch Orphanet:293202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma xsd:anyURI {source="GARD:0010181"}

[Term]
id: MONDO:0017388
name: celiac trunk compression syndrome
subset: ordo_disease {source="Orphanet:293208"}
synonym: "Dunbar syndrome" EXACT [Orphanet:293208]
xref: ICD10:I77.4 {source="Orphanet:293208", source="ORDO:293208/e"}
xref: Orphanet:293208 {source="MONDO:equivalentTo"}
xref: UMLS:CN203119 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203119
property_value: exactMatch Orphanet:293208

[Term]
id: MONDO:0017389
name: tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
def: "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." [Orphanet:293284]
subset: ordo_clinical_subtype {source="Orphanet:293284"}
synonym: "BH4-responsive HPA/PKU" EXACT [Orphanet:293284]
synonym: "BH4-responsive hyperphenylalaninemia/phenylketonuria" EXACT [Orphanet:293284]
synonym: "tetrahydrobiopterin-responsive HPA/PKU" EXACT [Orphanet:293284]
xref: ICD10:E70.1 {source="Orphanet:293284", source="ORDO:293284/attributed", source="ORDO:293284/ntbt"}
xref: Orphanet:293284 {source="MONDO:equivalentTo"}
is_a: MONDO:0009861 {source="Orphanet:293284"} ! phenylketonuria
property_value: exactMatch Orphanet:293284

[Term]
id: MONDO:0017390
name: methylmalonic acidemia without homocystinuria
def: "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." [Orphanet:293355]
subset: ordo_group_of_disorders {source="Orphanet:293355"}
synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355]
xref: ICD10:E71.1 {source="ORDO:293355/attributed", source="ORDO:293355/ntbt", source="Orphanet:293355"}
xref: Orphanet:293355 {source="MONDO:equivalentTo"}
is_a: MONDO:0002012 {source="MONDO:cjm"} ! methylmalonic acidemia
is_a: MONDO:0019215 {source="Orphanet:293355"} ! classic organic aciduria
property_value: exactMatch Orphanet:293355

[Term]
id: MONDO:0017391
name: Grayson-Wilbrandt corneal dystrophy
def: "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." [Orphanet:293375]
subset: ordo_disease {source="Orphanet:293375"}
synonym: "GWCD" EXACT [Orphanet:293375]
xref: ICD10:H18.5 {source="ORDO:293375/attributed", source="ORDO:293375/ntbt", source="Orphanet:293375"}
xref: Orphanet:293375 {source="MONDO:equivalentTo"}
xref: SCTID:717286002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0020212 {source="Orphanet:293375"} ! superficial corneal dystrophy
property_value: exactMatch http://identifiers.org/snomedct/717286002
property_value: exactMatch Orphanet:293375

[Term]
id: MONDO:0017392
name: pre-descemet corneal dystrophy
def: "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." [Orphanet:293462]
subset: ordo_disease {source="Orphanet:293462"}
synonym: "PDCD" EXACT [Orphanet:293462]
xref: ICD10:H18.5 {source="ORDO:293462/attributed", source="ORDO:293462/ntbt", source="Orphanet:293462"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:293462 {source="MONDO:equivalentTo"}
xref: SCTID:231934009 {source="MONDO:kboom-pr-1.00/0.79/8.22", source="MONDO:equivalentTo"}
is_a: MONDO:0020213 {source="Orphanet:293462", source="linkedlifedata"} ! stromal corneal dystrophy
property_value: exactMatch http://identifiers.org/snomedct/231934009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339282
property_value: exactMatch Orphanet:293462

[Term]
id: MONDO:0017393
name: blepharophimosis - intellectual disability syndrome
subset: ordo_group_of_disorders {source="Orphanet:293642"}
synonym: "blepharophimosis intellectual disability syndromes" RELATED [GARD:0010892]
synonym: "blepharophimosis mental retardation syndromes" RELATED [GARD:0010892]
synonym: "blepharophimosis syndrome Ohdo type" RELATED [GARD:0010892]
synonym: "BMRS" EXACT [Orphanet:293642]
synonym: "Say Barber Biesecker Young-Simpson syndrome" RELATED [GARD:0010892]
synonym: "SBBYS syndrome" RELATED [GARD:0010892]
synonym: "Young Simpson syndrome" RELATED [GARD:0010892]
xref: GARD:0010892 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:293642 {source="MONDO:equivalentTo"}
xref: UMLS:CN203134 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293642", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:293642"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203134
property_value: exactMatch Orphanet:293642

[Term]
id: MONDO:0017394
name: ketamine-induced biliary dilatation
def: "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." [Orphanet:293807]
subset: ordo_clinical_situation {source="Orphanet:293807"}
xref: Orphanet:293807 {source="MONDO:equivalentTo"}
xref: SCTID:726613003 {source="MONDO:equivalentTo"}
xref: UMLS:C4512018 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN227122 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004868 ! biliary tract disease
is_a: MONDO:0017633 {source="Orphanet:293807"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/snomedct/726613003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512018
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227122
property_value: exactMatch Orphanet:293807

[Term]
id: MONDO:0017395
name: fixed pigmented erythema
subset: ordo_disease {source="Orphanet:293812"}
synonym: "fixed drug eruption" EXACT [Orphanet:293812, PMID:9431719]
xref: MedDRA:10048796 {source="Orphanet:293812", source="ORDO:293812/e"}
xref: Orphanet:293812 {source="MONDO:equivalentTo"}
xref: SCTID:73692007 {source="MONDO:equivalentTo"}
is_a: MONDO:0017396 {source="Orphanet:293812"} ! toxic dermatosis
property_value: exactMatch http://identifiers.org/meddra/10048796
property_value: exactMatch http://identifiers.org/snomedct/73692007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877391
property_value: exactMatch Orphanet:293812

[Term]
id: MONDO:0017396
name: toxic dermatosis
subset: ordo_group_of_disorders {source="Orphanet:293815"}
xref: Orphanet:293815 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: exactMatch Orphanet:293815

[Term]
id: MONDO:0017397
name: constitutional dyserythropoietic anemia
subset: ordo_group_of_disorders {source="Orphanet:293830"}
xref: ICD10:D64.4 {source="ORDO:293830/attributed", source="ORDO:293830/ntbt", source="MONDO:superClassOf", source="Orphanet:293830"}
xref: Orphanet:293830 {source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="Orphanet:293830"} ! anemia (disease)
property_value: exactMatch Orphanet:293830

[Term]
id: MONDO:0017398
name: 3MC syndrome
def: "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti." [Orphanet:293843]
subset: gard_rare {source="GARD:0001118"}
subset: ordo_malformation_syndrome {source="Orphanet:293843"}
synonym: "craniofacial-ulnar-renal syndrome" EXACT [DOID:0060225, Orphanet:293843]
synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [Orphanet:293843]
synonym: "oculopalatoskeletal syndrome" EXACT [DOID:0060225]
xref: DOID:0060225 {source="MONDO:equivalentTo"}
xref: GARD:0001118 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="DOID:0060225", source="Orphanet:293843", source="ORDO:293843/attributed", source="ORDO:293843/ntbt"}
xref: OMIMPS:257920 {source="MONDO:equivalentTo", source="DOID:0060225"}
xref: Orphanet:293843 {source="MONDO:equivalentTo", source="DOID:0060225"}
xref: SCTID:720756005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:CN230015 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293843", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:293843"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796279
property_value: exactMatch DOID:0060225
property_value: exactMatch http://identifiers.org/snomedct/720756005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230015
property_value: exactMatch Orphanet:293843
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome xsd:anyURI {source="GARD:0001118"}

[Term]
id: MONDO:0017399
name: frontotemporal dementia, right temporal atrophy variant
def: "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." [Orphanet:293848]
subset: ordo_disease {source="Orphanet:293848"}
synonym: "RTLA" EXACT [Orphanet:293848]
synonym: "rvFTD" EXACT [Orphanet:293848]
xref: ICD10:G31.0 {source="Orphanet:293848", source="ORDO:293848/attributed", source="ORDO:293848/ntbt"}
xref: Orphanet:293848 {source="MONDO:equivalentTo"}
xref: SCTID:716667005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"}
xref: UMLS:CN203142 {source="MONDO:equivalentTo"}
is_a: MONDO:0010857 ! semantic dementia
property_value: exactMatch http://identifiers.org/snomedct/716667005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203142
property_value: exactMatch Orphanet:293848

[Term]
id: MONDO:0017400
name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
def: "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." [Orphanet:293864]
subset: ordo_malformation_syndrome {source="Orphanet:293864"}
synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [Orphanet:293864]
xref: ICD10:Q45.8 {source="ORDO:293864/attributed", source="ORDO:293864/ntbt", source="Orphanet:293864"}
xref: Orphanet:293864 {source="MONDO:equivalentTo"}
xref: UMLS:C2748662 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:293864"}
is_a: MONDO:0015212 {source="Orphanet:293864"} ! syndromic intestinal malformation
is_a: MONDO:0015214 {source="Orphanet:293864"} ! syndromic visceral malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748662
property_value: exactMatch Orphanet:293864

[Term]
id: MONDO:0017401
name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form
subset: ordo_clinical_subtype {source="Orphanet:293888"}
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [Orphanet:293888]
xref: ICD10:I42.8 {source="ORDO:293888/attributed", source="ORDO:293888/ntbt", source="Orphanet:293888"}
xref: Orphanet:293888 {source="MONDO:equivalentTo"}
xref: UMLS:CN203145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="MONDOLEX:0017401", source="Orphanet:293888"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203145
property_value: exactMatch Orphanet:293888

[Term]
id: MONDO:0017402
name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form
subset: ordo_clinical_subtype {source="Orphanet:293899"}
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [Orphanet:293899]
xref: ICD10:I42.8 {source="ORDO:293899/attributed", source="ORDO:293899/ntbt", source="Orphanet:293899"}
xref: Orphanet:293899 {source="MONDO:equivalentTo"}
xref: UMLS:CN203146 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="MONDOLEX:0017402", source="Orphanet:293899"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203146
property_value: exactMatch Orphanet:293899

[Term]
id: MONDO:0017403
name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form
subset: ordo_clinical_subtype {source="Orphanet:293910"}
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [Orphanet:293910]
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [Orphanet:293910]
synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [Orphanet:293910]
xref: ICD10:I42.8 {source="ORDO:293910/attributed", source="ORDO:293910/ntbt", source="Orphanet:293910"}
xref: Orphanet:293910 {source="MONDO:equivalentTo"}
xref: UMLS:CN203147 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="MONDOLEX:0017403", source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203147
property_value: exactMatch Orphanet:293910

[Term]
id: MONDO:0017404
name: distal Xq28 microduplication syndrome
def: "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." [Orphanet:293939]
subset: ordo_malformation_syndrome {source="Orphanet:293939"}
synonym: "distal dup(X)q(28)" EXACT [Orphanet:293939]
synonym: "distal trisomy Xq28" EXACT [Orphanet:293939]
xref: ICD10:Q99.8 {source="Orphanet:293939", source="ORDO:293939/attributed", source="ORDO:293939/ntbt"}
xref: Orphanet:293939 {source="MONDO:equivalentTo"}
xref: UMLS:CN203151 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293939"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017010 {source="MONDOLEX:0017404", source="Orphanet:293939"} ! partial duplication of the long arm of chromosome X
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203151
property_value: exactMatch Orphanet:293939

[Term]
id: MONDO:0017405
name: 1p21.3 microdeletion syndrome
def: "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." [Orphanet:293948]
subset: ordo_malformation_syndrome {source="Orphanet:293948"}
synonym: "Del(1)p(21.3)" EXACT [Orphanet:293948]
synonym: "monosomy 1p21.3" EXACT [Orphanet:293948]
xref: ICD10:Q93.5 {source="Orphanet:293948", source="ORDO:293948/attributed", source="ORDO:293948/ntbt"}
xref: Orphanet:293948 {source="MONDO:equivalentTo"}
xref: SCTID:719600006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304578 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN203152 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016883 {source="MONDOLEX:0017405", source="Orphanet:293948"} ! partial deletion of the short arm of chromosome 1
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/719600006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304578
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203152
property_value: exactMatch Orphanet:293948

[Term]
id: MONDO:0017406
name: hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:293967"}
synonym: "hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" EXACT [Orphanet:293967]
xref: Orphanet:293967 {source="MONDO:equivalentTo"}
xref: UMLS:CN203156 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015890 {source="Orphanet:293967"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0017119 {source="Orphanet:293967"} ! syndrome with microcephaly as major feature
is_a: MONDO:0019589 {source="Orphanet:293967"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203156
property_value: exactMatch Orphanet:293967

[Term]
id: MONDO:0017407
name: deficiency in anterior pituitary function - variable immunodeficiency syndrome
subset: ordo_disease {source="Orphanet:293978"}
synonym: "David syndrome" EXACT [Orphanet:293978]
xref: Orphanet:293978 {source="MONDO:equivalentTo"}
is_a: MONDO:0014260 ! immunodeficiency, common variable, 10
is_a: MONDO:0018041 {source="Orphanet:293978"} ! other immunodeficiency syndrome with predominantly antibody defects
is_a: MONDO:0019827 {source="Orphanet:293978"} ! disease associated with non-acquired combined pituitary hormone deficiency
property_value: exactMatch Orphanet:293978

[Term]
id: MONDO:0017408
name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
def: "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." [NCIT:C121944]
subset: ordo_disease {source="Orphanet:293987"}
synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome" EXACT [Orphanet:293987]
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" RELATED [GARD:0010407]
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation" EXACT [NCIT:C121944]
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome" EXACT [NCIT:C121944]
synonym: "ROHHAD" EXACT [Orphanet:293987]
synonym: "ROHHAD syndrome" EXACT [NCIT:C121944]
synonym: "ROHHADNET" EXACT [Orphanet:293987]
xref: GARD:0010407 {source="MONDO:equivalentTo"}
xref: NCIT:C121944 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.33"}
xref: Orphanet:293987 {source="MONDO:equivalentTo"}
xref: UMLS:C4053506 {source="NCIT:C121944", source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo"}
xref: UMLS:CN203158 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016565 {source="Orphanet:293987"} ! syndromic genetic obesity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4053506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203158
property_value: exactMatch NCIT:C121944
property_value: exactMatch Orphanet:293987

[Term]
id: MONDO:0017409
name: fetal cytomegalovirus syndrome
def: "An infection with the Cytomegalovirus that is present from birth." []
subset: gard_rare
subset: ordo_disease {source="Orphanet:294"}
synonym: "antenatal CMV infection" EXACT [Orphanet:294]
synonym: "antenatal cytomegalovirus infection" EXACT [Orphanet:294]
synonym: "CMV antenatal infection" RELATED [GARD:0001409]
synonym: "congenital Cytomegaloviral infection" EXACT [NCIT:C122427]
synonym: "congenital cytomegalovirus" RELATED [GARD:0001480]
synonym: "mother-to-child transmission of cytomegalovirus syndrome" EXACT [Orphanet:294]
xref: GARD:0001409 {source="MONDO:equivalentTo"}
xref: GARD:0001480 {source="MONDO:equivalentTo"}
xref: ICD10:P35.1 {source="ORDO:294/e", source="Orphanet:294"}
xref: NCIT:C122427 {source="MONDO:equivalentTo"}
xref: Orphanet:294 {source="MONDO:equivalentTo", source="GARD:0001480"}
xref: SCTID:276701009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0349499 {source="MONDO:equivalentTo", source="ORDO:294/e", source="Orphanet:294"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0017409"} ! syndromic disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005132 {source="MONDO:cjm", source="NCIT:C122427", source="linkedlifedata"} ! cytomegalovirus infection
is_a: MONDO:0015659 {source="Orphanet:294"} ! infectious disease with epilepsy
is_a: MONDO:0024318 ! viral infection of central nervous system
is_a: MONDO:0042971 ! congenital herpes virus infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158945
property_value: exactMatch http://identifiers.org/snomedct/276701009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349499
property_value: exactMatch NCIT:C122427
property_value: exactMatch Orphanet:294
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection xsd:anyURI {source="GARD:0001409"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus xsd:anyURI {source="GARD:0001480"}

[Term]
id: MONDO:0017410
name: porencephaly
def: "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." [Orphanet:2940]
subset: gard_rare {source="GARD:0007430"}
subset: ordo_disease {source="Orphanet:2940"}
xref: DOID:0060263 {source="MONDO:equivalentTo"}
xref: GARD:0007430 {source="MONDO:equivalentTo"}
xref: HP:0002132 {source="DOID:0060263", source="MONDO:otherHierarchy"}
xref: ICD10:Q04.6 {source="ORDO:2940/index", source="DOID:0060263", source="Orphanet:2940", source="ORDO:2940/ntbt"}
xref: MedDRA:10036172 {source="Orphanet:2940", source="ORDO:2940/e"}
xref: MESH:D065708 {source="DOID:0060263", source="MONDO:equivalentTo"}
xref: OMIMPS:175780 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2940 {source="DOID:0060263", source="MONDO:equivalentTo"}
is_a: MONDO:0015655 ! cerebral malformation with epilepsy
is_a: MONDO:0017103 {source="Orphanet:2940"} ! encephaloclastic disorder
relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:2940"} ! cerebral malformation with epilepsy
property_value: closeMatch http://identifiers.org/snomedct/204071008
property_value: closeMatch http://identifiers.org/snomedct/38353004
property_value: closeMatch http://identifiers.org/snomedct/698837003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302892
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3698507
property_value: exactMatch DOID:0060263
property_value: exactMatch http://identifiers.org/meddra/10036172
property_value: exactMatch http://identifiers.org/mesh/D065708
property_value: exactMatch Orphanet:2940
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7430/porencephaly xsd:anyURI {source="GARD:0007430"}

[Term]
id: MONDO:0017411
name: neonatal inflammatory skin and bowel disease
def: "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." [Orphanet:294023]
subset: ordo_disease {source="Orphanet:294023"}
synonym: "inflammatory skin and bowel disease, neonatal" EXACT [MONDO:0000180]
xref: DC:0000674 {source="MONDO:equivalentTo"}
xref: OMIMPS:614328 {source="DC:0000674", source="MONDO:equivalentTo"}
xref: Orphanet:294023 {source="MONDO:equivalentTo"}
xref: UMLS:CN228266 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DC:0000674", source="MONDO:Redundant", source="Orphanet:294023", source="indirect"} ! inflammatory bowel disease
is_a: MONDO:0017369 {source="Orphanet:294023"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0019274 {source="Orphanet:294023"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:294023"} ! other genetic epidermal disease
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228266
property_value: exactMatch Orphanet:294023

[Term]
id: MONDO:0017412
name: 2q31.1 microduplication syndrome
subset: ordo_malformation_syndrome {source="Orphanet:294026"}
synonym: "dup(2)(q31.1)" EXACT [Orphanet:294026]
synonym: "trisomy 2q31.1" EXACT [Orphanet:294026]
xref: ICD10:Q92.3 {source="ORDO:294026/attributed", source="ORDO:294026/ntbt", source="Orphanet:294026"}
xref: Orphanet:294026 {source="MONDO:equivalentTo"}
xref: UMLS:CN203162 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016953 {source="MONDOLEX:0017412", source="Orphanet:294026"} ! partial duplication of the long arm of chromosome 2
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203162
property_value: exactMatch Orphanet:294026

[Term]
id: MONDO:0017413
name: Reunion island Larsen syndrome
subset: ordo_disease {source="Orphanet:294049"}
synonym: "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" EXACT [Orphanet:294049]
synonym: "RLS" EXACT [Orphanet:294049]
xref: EFO:0002319 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.8 {source="ORDO:294049/attributed", source="ORDO:294049/ntbt", source="Orphanet:294049"}
xref: Orphanet:294049 {source="MONDO:equivalentTo"}
xref: UMLS:CN203163 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017749 {source="Orphanet:294049"} ! disorder of multiple glycosylation
is_a: MONDO:0018292 {source="Orphanet:294049"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0019700 {source="Orphanet:294049"} ! primary bone dysplasia with multiple joint dislocations
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203163
property_value: exactMatch Orphanet:294049

[Term]
id: MONDO:0017414
name: obsolete rare nevus
def: "Rare nevus." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:294057"}
synonym: "rare melanocytic nevus" EXACT [MONDO:patterns/rare]
synonym: "rare nevus" EXACT []
xref: Orphanet:294057 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:294057
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005073
consider: UMLS:C0027960 {source="Orphanet:294057"}

[Term]
id: MONDO:0017415
name: multiple pterygium syndrome
subset: ordo_group_of_disorders {source="Orphanet:294060"}
synonym: "pterygium syndrome" RELATED [MESH:C537377]
xref: DOID:0080110 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.8 {source="ORDO:294060/attributed", source="ORDO:294060/ntbt", source="Orphanet:294060"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537377 {source="MONDO:equivalentTo"}
xref: Orphanet:294060 {source="MONDO:equivalentTo"}
xref: SCTID:205819008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.67/0.54"}
is_a: MONDO:0015225 {source="Orphanet:294060"} ! arthrogryposis syndrome
property_value: exactMatch DOID:0080110
property_value: exactMatch http://identifiers.org/mesh/C537377
property_value: exactMatch http://identifiers.org/snomedct/205819008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265261
property_value: exactMatch Orphanet:294060

[Term]
id: MONDO:0017416
name: postpoliomyelitis syndrome
def: "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." [Orphanet:2942]
subset: ordo_disease {source="Orphanet:2942"}
synonym: "polio late effects" RELATED [GARD:0004454]
synonym: "post polio syndrome" RELATED [GARD:0004454]
synonym: "post-polio muscular atrophy" RELATED [GARD:0004454]
synonym: "post-polio sequelae" RELATED [GARD:0004454]
synonym: "post-poliomyelitic syndrome" RELATED [GARD:0004454]
synonym: "postpolio sequelae" EXACT [Orphanet:2942]
synonym: "postpolio syndrome" EXACT [DOID:4952, Orphanet:2942]
synonym: "postpoliomyelitic syndrome" EXACT [Orphanet:2942]
synonym: "postpoliomyelitis sequelae" EXACT [Orphanet:2942]
synonym: "postpoliomyelitis syndrome" EXACT [MONDO:0005930]
xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"}
xref: EFO:0007454 {source="MONDO:equivalentTo"}
xref: GARD:0004454 {source="MONDO:equivalentTo"}
xref: ICD10:G14 {source="DOID:4952", source="Orphanet:2942", source="ORDO:2942/e"}
xref: MESH:D016262 {source="DOID:4952", source="MONDO:equivalentTo", source="EFO:0007454"}
xref: Orphanet:2942 {source="MONDO:equivalentTo"}
xref: SCTID:31097004 {source="DOID:4952", source="MONDO:kboom-pr-0.73/0.43/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0080040 {source="DOID:4952", source="MONDO:equivalentTo", source="Orphanet:2942"}
is_a: MONDO:0017373 {source="DOID:4952", source="MESH:D016262", source="MONDOLEX:0017416"} ! poliomyelitis
property_value: closeMatch http://identifiers.org/snomedct/367094007
property_value: exactMatch DOID:4952
property_value: exactMatch http://identifiers.org/mesh/D016262
property_value: exactMatch http://identifiers.org/snomedct/31097004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080040
property_value: exactMatch Orphanet:2942

[Term]
id: MONDO:0017417
name: renal-hepatic-pancreatic dysplasia
def: "Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes." [Orphanet:294415]
subset: ordo_malformation_syndrome {source="Orphanet:294415"}
synonym: "Ivemark II syndrome" EXACT [Orphanet:294415]
synonym: "Ivemark's syndrome" EXACT [DOID:0060259]
synonym: "Renohepaticopancreatic dysplasia" EXACT [Orphanet:294415]
xref: DOID:0060259 {source="MONDO:equivalentTo"}
xref: OMIMPS:208540 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:294415 {source="DOID:0060259", source="MONDO:equivalentTo"}
xref: SCTID:763891005 {source="MONDO:equivalentTo"}
xref: UMLS:C2673883 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:294415"}
is_a: MONDO:0015214 {source="Orphanet:294415"} ! syndromic visceral malformation
is_a: MONDO:0019741 {source="Orphanet:294415"} ! familial cystic renal disease
property_value: exactMatch DOID:0060259
property_value: exactMatch http://identifiers.org/snomedct/763891005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673883
property_value: exactMatch Orphanet:294415

[Term]
id: MONDO:0017418
name: chronic intestinal failure
def: "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine; see these terms), short bowel syndrome (see this term), intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease; see this term)." [Orphanet:294422]
subset: ordo_clinical_syndrome {source="Orphanet:294422"}
synonym: "CIF" EXACT [Orphanet:294422]
xref: Orphanet:294422 {source="MONDO:equivalentTo"}
xref: SCTID:716665002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274352 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN203168 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:294422"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716665002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203168
property_value: exactMatch Orphanet:294422

[Term]
id: MONDO:0017419
name: non-syndromic amelia
def: "A congenital malformation characterized by the complete absence of all limbs." [NCIT:C34370]
subset: ordo_group_of_disorders {source="Orphanet:294925"}
synonym: "amelia" BROAD [MONDO:ambiguous]
synonym: "isolated amelia" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic amelia" EXACT [MONDO:DesignPattern]
xref: HP:0009827 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q73.0 {source="Orphanet:294925", source="ORDO:294925/e", source="ORDO:294925/specific"}
xref: MedDRA:10001926 {source="Orphanet:294925", source="ORDO:294925/e"}
xref: NCIT:C34370 {source="MONDO:equivalentTo"}
xref: Orphanet:294925 {source="MONDO:equivalentTo"}
xref: SCTID:62588002 {source="MONDO:kboom-pr-0.96/0.70/2.89", source="MONDO:equivalentTo"}
is_a: MONDO:0019713 {source="MONDO:Redundant", source="Orphanet:294925", source="Orphanet:294925/inferred"} ! non-syndromic limb reduction defect
property_value: exactMatch http://identifiers.org/meddra/10001926
property_value: exactMatch http://identifiers.org/snomedct/62588002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002447
property_value: exactMatch NCIT:C34370
property_value: exactMatch Orphanet:294925

[Term]
id: MONDO:0017420
name: intercalary limb defects
subset: ordo_group_of_disorders {source="Orphanet:294927"}
synonym: "intercalary meromelia" EXACT [Orphanet:294927]
xref: Orphanet:294927 {source="MONDO:equivalentTo"}
is_a: MONDO:0019713 {source="Orphanet:294927"} ! non-syndromic limb reduction defect
property_value: exactMatch Orphanet:294927

[Term]
id: MONDO:0017421
name: non-syndromic terminal limb defects
subset: ordo_group_of_disorders {source="Orphanet:294929"}
synonym: "isolated terminal limb defects" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic terminal limb defects" EXACT [MONDO:DesignPattern]
synonym: "terminal limb defects" EXACT [Orphanet:294929]
synonym: "terminal meromelia" EXACT [Orphanet:294929]
xref: Orphanet:294929 {source="MONDO:equivalentTo"}
is_a: MONDO:0019713 {source="Orphanet:294929"} ! non-syndromic limb reduction defect
property_value: exactMatch Orphanet:294929

[Term]
id: MONDO:0017422
name: adactyly of hand
subset: ordo_group_of_disorders {source="Orphanet:294931"}
synonym: "fingers absent" EXACT [Orphanet:294931]
xref: ICD10:Q71.3 {source="ORDO:294931/attributed", source="ORDO:294931/ntbt", source="Orphanet:294931"}
xref: Orphanet:294931 {source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:294931"} ! non-syndromic terminal limb defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0728895
property_value: exactMatch Orphanet:294931

[Term]
id: MONDO:0017423
name: split hand or/and split foot malformation
comment: Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss)
subset: ordo_group_of_disorders {source="Orphanet:294935"}
xref: ICD10:Q71.6 {source="Orphanet:294935", source="ORDO:294935/attributed", source="ORDO:294935/btnt"}
xref: ICD10:Q72.7 {source="Orphanet:294935", source="ORDO:294935/attributed", source="ORDO:294935/btnt"}
xref: Orphanet:294935 {source="MONDO:equivalentTo"}
is_a: MONDO:0018235 ! dysostosis with limb anomaly as a major feature
relationship: excluded_subClassOf MONDO:0017421 {source="Orphanet:294935"} ! non-syndromic terminal limb defects
property_value: exactMatch Orphanet:294935

[Term]
id: MONDO:0017424
name: non-syndromic brachydactyly
comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: ordo_group_of_disorders {source="Orphanet:294937"}
synonym: "brachydactyly" RELATED [MONDO:ambiguous]
synonym: "isolated brachydactyly" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic brachydactyly" EXACT [MONDO:DesignPattern]
xref: Orphanet:294937 {source="MONDO:equivalentTo", source="DOID:0050581"}
xref: SCTID:43476002 {source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:294937"} ! non-syndromic terminal limb defects
is_a: MONDO:0021004 ! brachydactyly (disease)
property_value: exactMatch http://identifiers.org/snomedct/43476002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221357
property_value: exactMatch Orphanet:294937

[Term]
id: MONDO:0017425
name: preaxial polydactyly of fingers
def: "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers (see these terms). Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." [Orphanet:294939]
subset: gard_rare {source="GARD:0012767"}
subset: ordo_group_of_disorders {source="Orphanet:294939"}
synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939]
xref: DC:0000362 {source="MONDO:equivalentTo"}
xref: GARD:0012767 {source="MONDO:equivalentTo"}
xref: ICD10:Q69.1 {source="Orphanet:294939", source="ORDO:294939/attributed", source="ORDO:294939/ntbt"}
xref: OMIMPS:174400 {source="MONDO:equivalentTo"}
xref: Orphanet:294939 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 {source="DC:0000362", source="Orphanet:294939"} ! non-syndromic polydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1395852
property_value: exactMatch Orphanet:294939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers xsd:anyURI {source="GARD:0012767"}

[Term]
id: MONDO:0017426
name: postaxial polydactyly of fingers
comment: Editor note: check
subset: ordo_group_of_disorders {source="Orphanet:294942"}
synonym: "postaxial polydactyly of hand" EXACT [Orphanet:294942]
xref: GARD:0012460 {source="MONDO:equivalentTo"}
xref: ICD10:Q69.0 {source="ORDO:294942/attributed", source="ORDO:294942/ntbt", source="Orphanet:294942"}
xref: Orphanet:294942 {source="MONDO:equivalentTo"}
xref: SCTID:205131007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.58"}
is_a: MONDO:0011348 {source="Orphanet:294942"} ! non-syndromic polydactyly
property_value: exactMatch http://identifiers.org/snomedct/205131007
property_value: exactMatch Orphanet:294942

[Term]
id: MONDO:0017427
name: congenital deformities of limbs
subset: ordo_group_of_disorders {source="Orphanet:294944"}
xref: MedDRA:10024500 {source="ORDO:294944/e", source="Orphanet:294944"}
xref: Orphanet:294944 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:294944"} ! non-syndromic limb malformation
property_value: exactMatch http://identifiers.org/meddra/10024500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206762
property_value: exactMatch Orphanet:294944

[Term]
id: MONDO:0017428
name: congenital deformities of fingers
subset: ordo_group_of_disorders {source="Orphanet:294947"}
xref: ICD10:Q68.1 {source="Orphanet:294947", source="ORDO:294947/attributed", source="ORDO:294947/ntbt"}
xref: Orphanet:294947 {source="MONDO:equivalentTo"}
is_a: MONDO:0017427 {source="Orphanet:294947"} ! congenital deformities of limbs
property_value: exactMatch Orphanet:294947

[Term]
id: MONDO:0017429
name: joint formation defects
subset: ordo_group_of_disorders {source="Orphanet:294949"}
xref: Orphanet:294949 {source="MONDO:equivalentTo"}
is_a: MONDO:0018455 {source="Orphanet:294949"} ! dysostosis of genetic origin with limb anomaly as a major feature
relationship: excluded_subClassOf MONDO:0015227 {source="Orphanet:294949", source="some subtypes may be syndromic eg congenital radioulnar synostosis"} ! non-syndromic limb malformation
property_value: exactMatch Orphanet:294949

[Term]
id: MONDO:0017430
name: non-syndromic congenital joint dislocations
subset: ordo_group_of_disorders {source="Orphanet:294951"}
synonym: "congenital joint dislocations" RELATED [Orphanet:294951]
xref: Orphanet:294951 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:294951"} ! non-syndromic limb malformation
property_value: exactMatch Orphanet:294951

[Term]
id: MONDO:0017431
name: non-syndromic limb overgrowth
subset: ordo_group_of_disorders {source="Orphanet:294953"}
synonym: "limb overgrowth" RELATED [Orphanet:294953]
xref: Orphanet:294953 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:294953"} ! non-syndromic limb malformation
property_value: exactMatch Orphanet:294953

[Term]
id: MONDO:0017432
name: syndrome with limb reduction defects
subset: ordo_group_of_disorders {source="Orphanet:294955"}
xref: Orphanet:294955 {source="MONDO:equivalentTo"}
xref: UMLS:CN203180 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:294955"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018235 {source="Orphanet:294955"} ! dysostosis with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203180
property_value: exactMatch Orphanet:294955

[Term]
id: MONDO:0017433
name: dysostosis with combined reduction defects of upper and lower limbs
subset: ordo_group_of_disorders {source="Orphanet:294957"}
xref: Orphanet:294957 {source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:294957"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="Orphanet:294957"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch Orphanet:294957

[Term]
id: MONDO:0017434
name: syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
subset: ordo_group_of_disorders {source="Orphanet:294959"}
xref: Orphanet:294959 {source="MONDO:equivalentTo"}
xref: UMLS:CN203181 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:294959"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="Orphanet:294959"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203181
property_value: exactMatch Orphanet:294959

[Term]
id: MONDO:0017435
name: popliteal pterygium syndrome
def: "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." [NCIT:P378]
comment: Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas)
subset: ordo_group_of_disorders {source="Orphanet:294963"}
synonym: "facio-genito-popliteal syndrome" EXACT [DOID:0060055]
synonym: "popliteal web syndrome" EXACT EXCLUDE [DOID:0060055]
synonym: "PPS" EXACT [NCIT:C118786]
xref: DOID:0060055 {source="MONDO:equivalentTo"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562509 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: NCIT:C118786 {source="DOID:0060055", source="MONDO:kboom-pr-0.91/0.70/1.16", source="MONDO:equivalentTo"}
xref: Orphanet:294963 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: SCTID:66783006 {source="DOID:0060055", source="MONDO:kboom-pr-0.84/0.67/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C0265259 {source="DOID:0060055", source="NCIT:C118786", source="MONDO:equivalentTo", source="Orphanet:294963", source="ORDO:294963/e"}
is_a: MONDO:0015225 {source="Orphanet:294963"} ! arthrogryposis syndrome
is_a: MONDO:0015501 {source="Orphanet:294963"} ! syndrome or malformation associated with head and neck malformations
property_value: closeMatch http://identifiers.org/snomedct/205820002
property_value: exactMatch DOID:0060055
property_value: exactMatch http://identifiers.org/mesh/C562509
property_value: exactMatch http://identifiers.org/snomedct/66783006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265259
property_value: exactMatch NCIT:C118786
property_value: exactMatch Orphanet:294963

[Term]
id: MONDO:0017436
name: lethal congenital contracture syndrome
def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." [DOID:0060558, PMID:22610851]
subset: ordo_group_of_disorders {source="Orphanet:294965"}
synonym: "LCCS" EXACT [Orphanet:294965]
xref: DOID:0060558 {source="MONDO:equivalentTo"}
xref: GARD:0012643 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q68.8 {source="DOID:0060558", source="Orphanet:294965", source="ORDO:294965/attributed", source="ORDO:294965/ntbt"}
xref: OMIMPS:253310 {source="MONDO:equivalentTo", source="DOID:0060558"}
xref: Orphanet:294965 {source="MONDO:equivalentTo", source="DOID:0060558"}
xref: UMLS:CN239241 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015225 {source="Orphanet:294965"} ! arthrogryposis syndrome
property_value: exactMatch DOID:0060558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239241
property_value: exactMatch Orphanet:294965

[Term]
id: MONDO:0017437
name: amelia of upper limb
def: "A non-syndromic amelia that involves the forelimb." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:294967"}
synonym: "forelimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic amelia of forelimb" EXACT [MONDO:design_pattern]
xref: HP:0009812 {source="MONDO:otherHierarchy"}
xref: ICD10:Q71.0 {source="ORDO:294967/specific", source="Orphanet:294967", source="ORDO:294967/e"}
xref: Orphanet:294967 {source="MONDO:equivalentTo"}
xref: SCTID:205306000 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294967", source="linkedlifedata"} ! non-syndromic amelia
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/snomedct/205306000
property_value: exactMatch Orphanet:294967

[Term]
id: MONDO:0017438
name: amelia of lower limb
def: "A non-syndromic amelia that involves the hindlimb." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:294969"}
synonym: "hindlimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic amelia of hindlimb" EXACT [MONDO:design_pattern]
xref: HP:0009818 {source="MONDO:otherHierarchy"}
xref: ICD10:Q72.0 {source="Orphanet:294969", source="ORDO:294969/e", source="ORDO:294969/specific"}
xref: Orphanet:294969 {source="MONDO:equivalentTo"}
xref: SCTID:265798000 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"}
is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294969", source="linkedlifedata"} ! non-syndromic amelia
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/snomedct/265798000
property_value: exactMatch Orphanet:294969

[Term]
id: MONDO:0017439
name: tetra-amelia
subset: ordo_morphological_anomaly {source="Orphanet:294971"}
synonym: "tetra-amelia syndrome" RELATED [GARD:0005148]
synonym: "tetra-amelia, autosomal recessive" RELATED [GARD:0005148]
synonym: "Tetraamelia, autosomal recessive" RELATED [GARD:0005148]
synonym: "total amelia" EXACT [Orphanet:294971]
xref: GARD:0005148 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0003057 {source="MONDO:otherHierarchy"}
xref: ICD10:Q73.0 {source="ORDO:294971/attributed", source="ORDO:294971/ntbt", source="Orphanet:294971"}
xref: MESH:C536498 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:294971 {source="MONDO:equivalentTo"}
xref: SCTID:702313004 {source="MONDO:equivalentTo"}
is_a: MONDO:0017419 {source="Orphanet:294971"} ! non-syndromic amelia
property_value: exactMatch http://identifiers.org/mesh/C536498
property_value: exactMatch http://identifiers.org/snomedct/702313004
property_value: exactMatch Orphanet:294971

[Term]
id: MONDO:0017440
name: humeral agenesis/hypoplasia
def: "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." [Orphanet:294973]
subset: ordo_morphological_anomaly {source="Orphanet:294973"}
synonym: "congenital absence of humerus" EXACT [Orphanet:294973]
synonym: "congenital hypoplasia of humerus" EXACT [Orphanet:294973]
synonym: "humeral intercalary meromelia" EXACT [Orphanet:294973]
xref: ICD10:Q71.8 {source="ORDO:294973/ntbt", source="ORDO:294973/index", source="Orphanet:294973"}
xref: Orphanet:294973 {source="MONDO:equivalentTo"}
is_a: MONDO:0019713 {source="Orphanet:294973", source="Orphanet:294973/inferred"} ! non-syndromic limb reduction defect
property_value: exactMatch Orphanet:294973

[Term]
id: MONDO:0017441
name: congenital absence of upper arm and forearm with hand present
def: "A congenital malformation in which the upper portion of a limb is either shortened or absent." [NCIT:C34928]
subset: ordo_morphological_anomaly {source="Orphanet:294975"}
synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [Orphanet:294975]
synonym: "phocomelia" EXACT [Orphanet:294975]
xref: GARD:0012123 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.1 {source="MONDO:equivalentTo", source="ORDO:294975/e", source="ORDO:294975/specific", source="Orphanet:294975"}
xref: NCIT:C34928 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:294975 {source="MONDO:equivalentTo"}
xref: SCTID:22841008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
is_a: MONDO:0017420 {source="Orphanet:294975"} ! intercalary limb defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031575
property_value: exactMatch http://identifiers.org/snomedct/22841008
property_value: exactMatch NCIT:C34928
property_value: exactMatch Orphanet:294975

[Term]
id: MONDO:0017442
name: congenital absence of thigh and lower leg with foot present
subset: ordo_morphological_anomaly {source="Orphanet:294977"}
synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [Orphanet:294977]
xref: ICD10:Q72.1 {source="MONDO:equivalentTo", source="ORDO:294977/specific", source="ORDO:294977/e", source="Orphanet:294977"}
xref: ICD9:755.33 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:294977 {source="MONDO:equivalentTo"}
xref: SCTID:55852007 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"}
is_a: MONDO:0017420 {source="Orphanet:294977"} ! intercalary limb defects
property_value: exactMatch http://identifiers.org/snomedct/55852007
property_value: exactMatch Orphanet:294977

[Term]
id: MONDO:0017443
name: congenital absence of both forearm and hand
def: "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." [Orphanet:294979]
subset: ordo_morphological_anomaly {source="Orphanet:294979"}
synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979]
xref: ICD10:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="ORDO:294979/specific", source="ORDO:294979/e"}
xref: Orphanet:294979 {source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:294979"} ! non-syndromic terminal limb defects
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306663
property_value: exactMatch Orphanet:294979

[Term]
id: MONDO:0017444
name: congenital absence of both lower leg and foot
subset: ordo_morphological_anomaly {source="Orphanet:294981"}
synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981]
xref: ICD10:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="ORDO:294981/e", source="ORDO:294981/specific"}
xref: Orphanet:294981 {source="MONDO:equivalentTo"}
xref: SCTID:278532000 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:294981"} ! non-syndromic terminal limb defects
property_value: exactMatch http://identifiers.org/snomedct/278532000
property_value: exactMatch Orphanet:294981

[Term]
id: MONDO:0017445
name: acheiria
subset: ordo_morphological_anomaly {source="Orphanet:294983"}
synonym: "congenital absence of hand" EXACT [Orphanet:294983]
xref: ICD10:Q71.3 {source="Orphanet:294983", source="ORDO:294983/e", source="ORDO:294983/specific"}
xref: Orphanet:294983 {source="MONDO:equivalentTo"}
xref: SCTID:371199008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017421 {source="Orphanet:294983"} ! non-syndromic terminal limb defects
property_value: exactMatch http://identifiers.org/snomedct/371199008
property_value: exactMatch Orphanet:294983

[Term]
id: MONDO:0017446
name: apodia
subset: ordo_morphological_anomaly {source="Orphanet:294986"}
synonym: "congenital absence of foot" EXACT [Orphanet:294986]
xref: ICD10:Q72.3 {source="ORDO:294986/e", source="ORDO:294986/specific", source="Orphanet:294986"}
xref: Orphanet:294986 {source="MONDO:equivalentTo"}
xref: SCTID:371197005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0017421 {source="Orphanet:294986"} ! non-syndromic terminal limb defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265624
property_value: exactMatch http://identifiers.org/snomedct/371197005
property_value: exactMatch Orphanet:294986

[Term]
id: MONDO:0017447
name: congenital absence/hypoplasia of thumb
def: "Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." [Orphanet:294988]
subset: ordo_morphological_anomaly {source="Orphanet:294988"}
synonym: "thumb hypodactyly" EXACT [Orphanet:294988]
synonym: "thumb oligodactyly" EXACT [Orphanet:294988]
xref: ICD10:Q71.3 {source="ORDO:294988/attributed", source="ORDO:294988/ntbt", source="Orphanet:294988"}
xref: Orphanet:294988 {source="MONDO:equivalentTo"}
is_a: MONDO:0017422 {source="Orphanet:294988"} ! adactyly of hand
property_value: exactMatch Orphanet:294988

[Term]
id: MONDO:0017448
name: congenital absence/hypoplasia of fingers excluding thumb
subset: ordo_morphological_anomaly {source="Orphanet:294990"}
synonym: "digits 2-5 hypodactyly" EXACT [Orphanet:294990]
synonym: "digits 2-5 oligodactyly" EXACT [Orphanet:294990]
xref: ICD10:Q71.3 {source="Orphanet:294990", source="ORDO:294990/attributed", source="ORDO:294990/ntbt"}
xref: Orphanet:294990 {source="MONDO:equivalentTo"}
is_a: MONDO:0017422 {source="Orphanet:294990"} ! adactyly of hand
property_value: exactMatch Orphanet:294990

[Term]
id: MONDO:0017449
name: split hand (disease)
def: "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:294992]
subset: ordo_morphological_anomaly {source="Orphanet:294992"}
synonym: "ectrodactyly of hand" EXACT [Orphanet:294992]
synonym: "split hand" EXACT [MONDO:ambiguous]
xref: HP:0001171 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q71.6 {source="Orphanet:294992", source="ORDO:294992/e", source="ORDO:294992/specific"}
xref: Orphanet:294992 {source="MONDO:equivalentTo"}
is_a: MONDO:0017423 {source="Orphanet:294992"} ! split hand or/and split foot malformation
property_value: exactMatch Orphanet:294992

[Term]
id: MONDO:0017450
name: split foot (disease)
subset: ordo_morphological_anomaly {source="Orphanet:294994"}
synonym: "split foot" EXACT [MONDO:ambiguous]
xref: HP:0001839 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q72.7 {source="Orphanet:294994", source="ORDO:294994/e", source="ORDO:294994/specific"}
xref: Orphanet:294994 {source="MONDO:equivalentTo"}
xref: SCTID:205358006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0017423 {source="Orphanet:294994"} ! split hand or/and split foot malformation
property_value: exactMatch http://identifiers.org/snomedct/205358006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432028
property_value: exactMatch Orphanet:294994

[Term]
id: MONDO:0017451
name: non-syndromic brachydactyly of fingers
def: "A non-syndromic brachydactyly that involves the manus." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:294996"}
synonym: "manus non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic brachydactyly of manus" EXACT [MONDO:design_pattern]
synonym: "short fingers" EXACT [Orphanet:294996]
xref: ICD10:Q71.8 {source="ORDO:294996/attributed", source="ORDO:294996/ntbt", source="Orphanet:294996"}
xref: Orphanet:294996 {source="MONDO:equivalentTo"}
is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294996"} ! non-syndromic brachydactyly
is_a: MONDO:0044990 ! hand disease
property_value: exactMatch Orphanet:294996

[Term]
id: MONDO:0017452
name: non-syndromic brachydactyly of toes
def: "A non-syndromic brachydactyly that involves the pes." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:294998"}
synonym: "non-syndromic brachydactyly of pes" EXACT [MONDO:design_pattern]
synonym: "pes non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "short toes" EXACT [Orphanet:294998]
xref: ICD10:Q72.8 {source="Orphanet:294998", source="ORDO:294998/attributed", source="ORDO:294998/ntbt"}
xref: ICD9:755.66 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:294998 {source="MONDO:equivalentTo"}
xref: SCTID:205346006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294998", source="linkedlifedata"} ! non-syndromic brachydactyly
is_a: MONDO:0044989 ! foot disease
property_value: exactMatch http://identifiers.org/snomedct/205346006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432029
property_value: exactMatch Orphanet:294998

[Term]
id: MONDO:0017453
name: fetal parvovirus syndrome
def: "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." [Orphanet:295]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:295"}
synonym: "fifth disease" RELATED [GARD:0004236]
synonym: "Human parvovirus B19 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human parvovirus B19 infectious embryofetopathy" EXACT []
synonym: "Maternofetal infection by parvovirus" RELATED [GARD:0004236]
synonym: "mother-to-child transmission of parvovirus syndrome" EXACT [Orphanet:295]
synonym: "Parvovirus antenatal infection" EXACT [Orphanet:295]
synonym: "Parvovirus B19 antenatal infection" RELATED [GARD:0004236]
xref: GARD:0002310 {source="MONDO:equivalentTo"}
xref: GARD:0004236 {source="MONDO:equivalentTo"}
xref: ICD10:P35.8 {source="ORDO:295/ntbt", source="Orphanet:295"}
xref: MESH:C536301 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:295 {source="MONDO:equivalentTo"}
xref: SCTID:715197005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015323 {source="Orphanet:295"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016511 {source="MONDO:Redundant", source="Orphanet:295"} ! infectious embryofetopathy
is_a: MONDO:0025371 ! Parvoviridae infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931167
property_value: exactMatch http://identifiers.org/mesh/C536301
property_value: exactMatch http://identifiers.org/snomedct/715197005
property_value: exactMatch Orphanet:295

[Term]
id: MONDO:0017454
name: triphalangeal thumb-polysyndactyly syndrome
def: "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." [Orphanet:2950]
subset: ordo_malformation_syndrome {source="Orphanet:2950"}
synonym: "TPT-PS syndrome" EXACT [Orphanet:2950]
xref: ICD10:Q74.8 {source="Orphanet:2950", source="ORDO:2950/attributed", source="ORDO:2950/ntbt"}
xref: Orphanet:2950 {source="MONDO:equivalentTo"}
xref: UMLS:CN203197 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017434 {source="Orphanet:2950"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
relationship: disease_has_major_feature MONDO:0008270 ! polydactyly of a triphalangeal thumb
property_value: exactMatch http://identifiers.org/mesh/C536563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1969369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203197
property_value: exactMatch Orphanet:2950

[Term]
id: MONDO:0017455
name: hyperphalangy
def: "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." [Orphanet:295002]
subset: ordo_morphological_anomaly {source="Orphanet:295002"}
synonym: "supernumerary phalanges" EXACT [Orphanet:295002]
synonym: "supernumerary phalanx" EXACT [Orphanet:295002]
xref: ICD10:Q74.8 {source="ORDO:295002/attributed", source="ORDO:295002/ntbt", source="Orphanet:295002"}
xref: Orphanet:295002 {source="MONDO:equivalentTo"}
xref: SCTID:763535005 {source="MONDO:equivalentTo"}
is_a: MONDO:0019714 {source="Orphanet:295002"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy
property_value: exactMatch http://identifiers.org/snomedct/763535005
property_value: exactMatch Orphanet:295002

[Term]
id: MONDO:0017456
name: central polydactyly of fingers
subset: ordo_morphological_anomaly {source="Orphanet:295004"}
synonym: "central polydactyly" RELATED [Orphanet:295004]
synonym: "central polydactyly of hand" EXACT [Orphanet:295004]
synonym: "mesoaxial polydactyly" EXACT [Orphanet:295004]
synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004]
synonym: "mirror hand" EXACT [Orphanet:295004]
xref: GARD:0012769 {source="MONDO:equivalentTo"}
xref: ICD10:Q69.0 {source="ORDO:295004/attributed", source="ORDO:295004/ntbt", source="Orphanet:295004"}
xref: Orphanet:295004 {source="MONDO:equivalentTo"}
xref: SCTID:205130008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0011348 {source="Orphanet:295004", source="Orphanet:295004/inferred"} ! non-syndromic polydactyly
property_value: exactMatch http://identifiers.org/snomedct/205130008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431903
property_value: exactMatch Orphanet:295004

[Term]
id: MONDO:0017457
name: Preaxial polydactyly of toes
subset: ordo_morphological_anomaly {source="Orphanet:295006"}
synonym: "bifid great toes" EXACT [Orphanet:295006]
synonym: "bifid halluces" EXACT [Orphanet:295006]
synonym: "bifid hallux" EXACT [Orphanet:295006]
synonym: "preaxial polydactyly of foot" EXACT [Orphanet:295006]
xref: GARD:0012771 {source="MONDO:equivalentTo"}
xref: ICD10:Q69.2 {source="ORDO:295006/attributed", source="ORDO:295006/ntbt", source="Orphanet:295006"}
xref: Orphanet:295006 {source="MONDO:equivalentTo"}
xref: SCTID:205132000 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 {source="Orphanet:295006"} ! non-syndromic polydactyly
property_value: exactMatch http://identifiers.org/snomedct/205132000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432036
property_value: exactMatch Orphanet:295006

[Term]
id: MONDO:0017458
name: postaxial polydactyly of toes
subset: ordo_morphological_anomaly {source="Orphanet:295008"}
synonym: "postaxial polydactyly of foot" EXACT [Orphanet:295008]
xref: GARD:0012770 {source="MONDO:equivalentTo"}
xref: ICD10:Q69.2 {source="ORDO:295008/attributed", source="ORDO:295008/ntbt", source="Orphanet:295008"}
xref: Orphanet:295008 {source="MONDO:equivalentTo"}
xref: SCTID:205133005 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 {source="Orphanet:295008"} ! non-syndromic polydactyly
property_value: exactMatch http://identifiers.org/snomedct/205133005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432037
property_value: exactMatch Orphanet:295008

[Term]
id: MONDO:0017459
name: central polydactyly of toes
subset: ordo_morphological_anomaly {source="Orphanet:295010"}
synonym: "central polydactyly of foot" EXACT [Orphanet:295010]
synonym: "mesoaxial polydactyly of toes" EXACT [Orphanet:295010]
synonym: "mirror foot" EXACT [Orphanet:295010]
xref: ICD10:Q69.2 {source="Orphanet:295010", source="ORDO:295010/attributed", source="ORDO:295010/ntbt"}
xref: Orphanet:295010 {source="MONDO:equivalentTo"}
xref: SCTID:253967005 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 {source="Orphanet:295010"} ! non-syndromic polydactyly
property_value: exactMatch http://identifiers.org/snomedct/253967005
property_value: exactMatch Orphanet:295010

[Term]
id: MONDO:0017460
name: syndactyly type 6
def: "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers." [Orphanet:295012]
subset: ordo_morphological_anomaly {source="Orphanet:295012"}
synonym: "mitten hand" EXACT [Orphanet:295012]
synonym: "syndactyly, mitten type" EXACT [Orphanet:295012]
synonym: "unilateral syndactyly of digits 2-5" EXACT [Orphanet:295012]
xref: ICD10:Q70.1 {source="Orphanet:295012", source="ORDO:295012/attributed", source="ORDO:295012/ntbt"}
xref: Orphanet:295012 {source="MONDO:equivalentTo"}
xref: SCTID:763624007 {source="MONDO:equivalentTo"}
xref: UMLS:CN203203 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019530 {source="Orphanet:295012"} ! non-syndromic syndactyly
property_value: exactMatch http://identifiers.org/snomedct/763624007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203203
property_value: exactMatch Orphanet:295012

[Term]
id: MONDO:0017461
name: familial isolated clinodactyly of fingers
def: "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." [Orphanet:295014]
subset: ordo_morphological_anomaly {source="Orphanet:295014"}
xref: ICD10:Q68.1 {source="ORDO:295014/attributed", source="ORDO:295014/ntbt", source="Orphanet:295014"}
xref: Orphanet:295014 {source="MONDO:equivalentTo"}
xref: SCTID:763691008 {source="MONDO:equivalentTo"}
is_a: MONDO:0017428 {source="Orphanet:295014"} ! congenital deformities of fingers
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265610
property_value: exactMatch http://identifiers.org/snomedct/763691008
property_value: exactMatch Orphanet:295014

[Term]
id: MONDO:0017462
name: congenital pseudoarthrosis of the tibia
def: "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." [NCIT:C132080]
subset: ordo_clinical_subtype {source="Orphanet:295018"}
synonym: "congenital pseudarthrosis of the tibia" EXACT [Orphanet:295018]
synonym: "congenital pseudarthrosis of tibia" EXACT [NCIT:C132080]
xref: ICD10:Q74.2 {source="ORDO:295018/attributed", source="ORDO:295018/ntbt", source="Orphanet:295018"}
xref: NCIT:C132080 {source="MONDO:equivalentTo"}
xref: Orphanet:295018 {source="MONDO:equivalentTo"}
xref: SCTID:55379003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265661 {source="MONDO:equivalentTo", source="Orphanet:295018", source="ORDO:295018/e"}
is_a: MONDO:0015525 {source="Orphanet:295018"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch http://identifiers.org/snomedct/55379003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265661
property_value: exactMatch NCIT:C132080
property_value: exactMatch Orphanet:295018

[Term]
id: MONDO:0017463
name: congenital pseudoarthrosis of the femur
subset: ordo_clinical_subtype {source="Orphanet:295020"}
synonym: "congenital pseudarthrosis of the femur" EXACT [Orphanet:295020]
xref: ICD10:Q74.2 {source="Orphanet:295020", source="ORDO:295020/attributed", source="ORDO:295020/ntbt"}
xref: Orphanet:295020 {source="MONDO:equivalentTo"}
is_a: MONDO:0015525 {source="Orphanet:295020"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch Orphanet:295020

[Term]
id: MONDO:0017464
name: congenital pseudoarthrosis of the fibula
subset: ordo_clinical_subtype {source="Orphanet:295022"}
synonym: "congenital pseudarthrosis of the fibula" EXACT [Orphanet:295022]
xref: ICD10:Q74.2 {source="Orphanet:295022", source="ORDO:295022/attributed", source="ORDO:295022/ntbt"}
xref: Orphanet:295022 {source="MONDO:equivalentTo"}
is_a: MONDO:0015525 {source="Orphanet:295022"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch Orphanet:295022

[Term]
id: MONDO:0017465
name: congenital pseudoarthrosis of the radius
subset: ordo_clinical_subtype {source="Orphanet:295024"}
synonym: "congenital pseudarthrosis of the radius" EXACT [Orphanet:295024]
xref: ICD10:Q74.0 {source="ORDO:295024/attributed", source="ORDO:295024/ntbt", source="Orphanet:295024"}
xref: Orphanet:295024 {source="MONDO:equivalentTo"}
is_a: MONDO:0015525 {source="Orphanet:295024"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch Orphanet:295024

[Term]
id: MONDO:0017466
name: congenital pseudoarthrosis of the ulna
subset: ordo_clinical_subtype {source="Orphanet:295026"}
synonym: "congenital pseudarthrosis of the ulna" EXACT [Orphanet:295026]
xref: ICD10:Q74.0 {source="ORDO:295026/attributed", source="ORDO:295026/ntbt", source="Orphanet:295026"}
xref: Orphanet:295026 {source="MONDO:equivalentTo"}
is_a: MONDO:0015525 {source="Orphanet:295026"} ! congenital pseudoarthrosis of the limbs
property_value: exactMatch Orphanet:295026

[Term]
id: MONDO:0017467
name: tibio-fibular synostosis
def: "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." [Orphanet:295028]
subset: ordo_morphological_anomaly {source="Orphanet:295028"}
synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028]
xref: ICD10:Q74.2 {source="ORDO:295028/attributed", source="ORDO:295028/ntbt", source="Orphanet:295028"}
xref: Orphanet:295028 {source="MONDO:equivalentTo"}
xref: SCTID:737581000 {source="MONDO:equivalentTo"}
is_a: MONDO:0017429 {source="Orphanet:295028"} ! joint formation defects
property_value: exactMatch http://identifiers.org/snomedct/737581000
property_value: exactMatch Orphanet:295028

[Term]
id: MONDO:0017468
name: congenital shoulder dislocation
subset: ordo_morphological_anomaly {source="Orphanet:295030"}
xref: ICD10:Q68.8 {source="Orphanet:295030", source="ORDO:295030/inclusion", source="ORDO:295030/ntbt"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:295030 {source="MONDO:equivalentTo"}
xref: SCTID:23876003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0017430 {source="Orphanet:295030"} ! non-syndromic congenital joint dislocations
property_value: exactMatch http://identifiers.org/snomedct/23876003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265562
property_value: exactMatch Orphanet:295030

[Term]
id: MONDO:0017469
name: congenital elbow dislocation
subset: ordo_morphological_anomaly {source="Orphanet:295032"}
synonym: "congenital radial head dislocation" EXACT [Orphanet:295032]
synonym: "isolated congenital elbow dislocation" EXACT [Orphanet:295032]
synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032]
xref: ICD10:Q68.8 {source="Orphanet:295032", source="ORDO:295032/inclusion", source="ORDO:295032/ntbt"}
xref: Orphanet:295032 {source="MONDO:equivalentTo"}
is_a: MONDO:0017430 {source="Orphanet:295032"} ! non-syndromic congenital joint dislocations
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265561
property_value: exactMatch Orphanet:295032

[Term]
id: MONDO:0017470
name: congenital knee dislocation (disease)
subset: ordo_morphological_anomaly {source="Orphanet:295034"}
synonym: "congenital knee dislocation" EXACT [MONDO:ambiguous]
xref: HP:0005191 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q68.2 {source="Orphanet:295034", source="ORDO:295034/ntbt", source="ORDO:295034/inclusion"}
xref: ICD9:754.41 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10010520 {source="Orphanet:295034", source="ORDO:295034/e"}
xref: Orphanet:295034 {source="MONDO:equivalentTo"}
xref: SCTID:59068006 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0017430 {source="Orphanet:295034"} ! non-syndromic congenital joint dislocations
property_value: exactMatch http://identifiers.org/meddra/10010520
property_value: exactMatch http://identifiers.org/snomedct/59068006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265669
property_value: exactMatch Orphanet:295034

[Term]
id: MONDO:0017471
name: congenital patella dislocation
subset: gard_rare {source="GARD:0009692"}
subset: ordo_morphological_anomaly {source="Orphanet:295036"}
synonym: "congenital dislocation of the patella" RELATED [GARD:0009692]
synonym: "congenital patellar dislocation" RELATED [GARD:0009692]
xref: GARD:0009692 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.1 {source="ORDO:295036/ntbt", source="Orphanet:295036", source="ORDO:295036/inclusion"}
xref: MESH:C538081 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:295036 {source="MONDO:equivalentTo"}
xref: SCTID:205067002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0017430 {source="Orphanet:295036"} ! non-syndromic congenital joint dislocations
property_value: exactMatch http://identifiers.org/mesh/C538081
property_value: exactMatch http://identifiers.org/snomedct/205067002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345360
property_value: exactMatch Orphanet:295036
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella xsd:anyURI {source="GARD:0009692"}

[Term]
id: MONDO:0017472
name: patella aplasia/hypoplasia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295038"}
xref: ICD10:Q74.1 {source="ORDO:295038/attributed", source="ORDO:295038/ntbt", source="Orphanet:295038"}
xref: Orphanet:295038 {source="MONDO:equivalentTo"}
is_a: MONDO:0008205 {source="Orphanet:295038"} ! patella aplasia/hypoplasia
property_value: exactMatch Orphanet:295038

[Term]
id: MONDO:0017473
name: patella aplasia/hypoplasia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295041"}
xref: ICD10:Q74.1 {source="Orphanet:295041", source="ORDO:295041/attributed", source="ORDO:295041/ntbt"}
xref: Orphanet:295041 {source="MONDO:equivalentTo"}
is_a: MONDO:0008205 {source="Orphanet:295041"} ! patella aplasia/hypoplasia
property_value: exactMatch Orphanet:295041

[Term]
id: MONDO:0017474
name: macrodactyly of fingers
subset: ordo_morphological_anomaly {source="Orphanet:295044"}
synonym: "macrodactyly of hand" EXACT [Orphanet:295044]
synonym: "macrodactyly of the hand" RELATED [GARD:0008529]
synonym: "megalodactylism of the hand" RELATED [GARD:0008529]
synonym: "Megalodactyly of the hand" RELATED [GARD:0008529]
xref: GARD:0008529 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100746 {source="MONDO:otherHierarchy"}
xref: ICD10:Q74.0 {source="Orphanet:295044", source="ORDO:295044/attributed", source="ORDO:295044/ntbt"}
xref: MESH:C537720 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:295044 {source="MONDO:equivalentTo"}
xref: SCTID:297195000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017431 {source="Orphanet:295044"} ! non-syndromic limb overgrowth
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0574044
property_value: exactMatch http://identifiers.org/mesh/C537720
property_value: exactMatch http://identifiers.org/snomedct/297195000
property_value: exactMatch Orphanet:295044

[Term]
id: MONDO:0017475
name: macrodactyly of toes
subset: ordo_morphological_anomaly {source="Orphanet:295047"}
synonym: "macrodactyly of foot" EXACT [Orphanet:295047]
synonym: "macrodactyly of the foot" RELATED [GARD:0006951]
synonym: "megalodactylism of the foot" RELATED [GARD:0006951]
synonym: "Megalodactyly of the foot" RELATED [GARD:0006951]
xref: GARD:0006951 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0100747 {source="MONDO:otherHierarchy"}
xref: ICD10:Q74.2 {source="ORDO:295047/index", source="ORDO:295047/ntbt", source="Orphanet:295047"}
xref: MESH:C537719 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:295047 {source="MONDO:equivalentTo"}
is_a: MONDO:0017431 {source="Orphanet:295047"} ! non-syndromic limb overgrowth
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931596
property_value: exactMatch http://identifiers.org/mesh/C537719
property_value: exactMatch Orphanet:295047

[Term]
id: MONDO:0017476
name: upper limb hypertrophy
subset: ordo_morphological_anomaly {source="Orphanet:295049"}
xref: ICD10:Q74.0 {source="ORDO:295049/attributed", source="ORDO:295049/ntbt", source="Orphanet:295049"}
xref: Orphanet:295049 {source="MONDO:equivalentTo"}
is_a: MONDO:0017431 {source="Orphanet:295049"} ! non-syndromic limb overgrowth
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0575518
property_value: exactMatch Orphanet:295049

[Term]
id: MONDO:0017477
name: lower limb hypertrophy
def: "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." [Orphanet:295051]
subset: ordo_morphological_anomaly {source="Orphanet:295051"}
xref: ICD10:Q74.2 {source="Orphanet:295051", source="ORDO:295051/attributed", source="ORDO:295051/ntbt"}
xref: Orphanet:295051 {source="MONDO:equivalentTo"}
is_a: MONDO:0017431 {source="Orphanet:295051"} ! non-syndromic limb overgrowth
property_value: exactMatch Orphanet:295051

[Term]
id: MONDO:0017478
name: amelia of upper limb, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295053"}
xref: ICD10:Q71.0 {source="Orphanet:295053", source="ORDO:295053/attributed", source="ORDO:295053/ntbt"}
xref: Orphanet:295053 {source="MONDO:equivalentTo"}
is_a: MONDO:0017437 {source="MONDOLEX:0017478", source="Orphanet:295053"} ! amelia of upper limb
property_value: exactMatch Orphanet:295053

[Term]
id: MONDO:0017479
name: amelia of upper limb, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295055"}
xref: ICD10:Q71.0 {source="Orphanet:295055", source="ORDO:295055/attributed", source="ORDO:295055/ntbt"}
xref: Orphanet:295055 {source="MONDO:equivalentTo"}
is_a: MONDO:0017437 {source="MONDOLEX:0017479", source="Orphanet:295055"} ! amelia of upper limb
property_value: exactMatch Orphanet:295055

[Term]
id: MONDO:0017480
name: amelia of lower limb, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295057"}
xref: ICD10:Q72.0 {source="ORDO:295057/attributed", source="ORDO:295057/ntbt", source="Orphanet:295057"}
xref: Orphanet:295057 {source="MONDO:equivalentTo"}
is_a: MONDO:0017438 {source="MONDOLEX:0017480", source="Orphanet:295057"} ! amelia of lower limb
property_value: exactMatch Orphanet:295057

[Term]
id: MONDO:0017481
name: amelia of lower limb, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295059"}
xref: ICD10:Q72.0 {source="ORDO:295059/attributed", source="ORDO:295059/ntbt", source="Orphanet:295059"}
xref: Orphanet:295059 {source="MONDO:equivalentTo"}
is_a: MONDO:0017438 {source="MONDOLEX:0017481", source="Orphanet:295059"} ! amelia of lower limb
property_value: exactMatch Orphanet:295059

[Term]
id: MONDO:0017482
name: humeral agenesis/hypoplasia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295061"}
synonym: "humeral intercalary meromelia, unilateral" EXACT [Orphanet:295061]
xref: ICD10:Q71.8 {source="ORDO:295061/attributed", source="ORDO:295061/ntbt", source="Orphanet:295061"}
xref: Orphanet:295061 {source="MONDO:equivalentTo"}
is_a: MONDO:0017440 {source="Orphanet:295061"} ! humeral agenesis/hypoplasia
property_value: exactMatch Orphanet:295061

[Term]
id: MONDO:0017483
name: humeral agenesis/hypoplasia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295063"}
synonym: "humeral intercalary meromelia, bilateral" EXACT [Orphanet:295063]
xref: ICD10:Q71.8 {source="Orphanet:295063", source="ORDO:295063/attributed", source="ORDO:295063/ntbt"}
xref: Orphanet:295063 {source="MONDO:equivalentTo"}
is_a: MONDO:0017440 {source="Orphanet:295063"} ! humeral agenesis/hypoplasia
property_value: exactMatch Orphanet:295063

[Term]
id: MONDO:0017484
name: femoral agenesis/hypoplasia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295065"}
synonym: "femoral intercalary meromelia, unilateral" EXACT [Orphanet:295065]
xref: ICD10:Q72.4 {source="Orphanet:295065", source="ORDO:295065/attributed", source="ORDO:295065/ntbt"}
xref: Orphanet:295065 {source="MONDO:equivalentTo"}
is_a: MONDO:0016032 {source="Orphanet:295065"} ! femoral agenesis/hypoplasia
property_value: exactMatch Orphanet:295065

[Term]
id: MONDO:0017485
name: femoral agenesis/hypoplasia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295067"}
synonym: "femoral intercalary meromelia, bilateral" EXACT [Orphanet:295067]
xref: ICD10:Q72.4 {source="Orphanet:295067", source="ORDO:295067/attributed", source="ORDO:295067/ntbt"}
xref: Orphanet:295067 {source="MONDO:equivalentTo"}
is_a: MONDO:0016032 {source="Orphanet:295067"} ! femoral agenesis/hypoplasia
property_value: exactMatch Orphanet:295067

[Term]
id: MONDO:0017486
name: radial hemimelia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295069"}
synonym: "radial longitidinal meromelia, unilateral" EXACT [Orphanet:295069]
xref: ICD10:Q71.4 {source="ORDO:295069/attributed", source="ORDO:295069/ntbt", source="Orphanet:295069"}
xref: Orphanet:295069 {source="MONDO:equivalentTo"}
is_a: MONDO:0019671 {source="MONDOLEX:0017486", source="Orphanet:295069"} ! radial hemimelia
property_value: exactMatch Orphanet:295069

[Term]
id: MONDO:0017487
name: radial hemimelia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295071"}
synonym: "radial longitidinal meromelia, bilateral" EXACT [Orphanet:295071]
xref: ICD10:Q71.4 {source="ORDO:295071/attributed", source="ORDO:295071/ntbt", source="Orphanet:295071"}
xref: Orphanet:295071 {source="MONDO:equivalentTo"}
is_a: MONDO:0019671 {source="MONDOLEX:0017487", source="Orphanet:295071"} ! radial hemimelia
property_value: exactMatch Orphanet:295071

[Term]
id: MONDO:0017488
name: ulnar hemimelia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295073"}
synonym: "ulnar longitudinal meromelia, bilateral" EXACT [Orphanet:295073]
xref: ICD10:Q71.5 {source="Orphanet:295073", source="ORDO:295073/attributed", source="ORDO:295073/ntbt"}
xref: Orphanet:295073 {source="MONDO:equivalentTo"}
is_a: MONDO:0019670 {source="MONDOLEX:0017488", source="Orphanet:295073"} ! ulnar hemimelia
property_value: exactMatch Orphanet:295073

[Term]
id: MONDO:0017489
name: ulnar hemimelia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295075"}
synonym: "ulnar longitudinal meromelia, unilateral" EXACT [Orphanet:295075]
xref: ICD10:Q71.5 {source="Orphanet:295075", source="ORDO:295075/attributed", source="ORDO:295075/ntbt"}
xref: Orphanet:295075 {source="MONDO:equivalentTo"}
is_a: MONDO:0019670 {source="MONDOLEX:0017489", source="Orphanet:295075"} ! ulnar hemimelia
property_value: exactMatch Orphanet:295075

[Term]
id: MONDO:0017490
name: tibial hemimelia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295077"}
synonym: "tibial longitudinal meromelia, unilateral" EXACT [Orphanet:295077]
xref: ICD10:Q72.5 {source="Orphanet:295077", source="ORDO:295077/attributed", source="ORDO:295077/ntbt"}
xref: Orphanet:295077 {source="MONDO:equivalentTo"}
xref: UMLS:CN203228 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010144 {source="MONDOLEX:0017490", source="Orphanet:295077"} ! tibial hemimelia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203228
property_value: exactMatch Orphanet:295077

[Term]
id: MONDO:0017491
name: tibial hemimelia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295079"}
synonym: "tibial longitudinal meromelia, bilateral" EXACT [Orphanet:295079]
xref: ICD10:Q72.5 {source="ORDO:295079/attributed", source="ORDO:295079/ntbt", source="Orphanet:295079"}
xref: Orphanet:295079 {source="MONDO:equivalentTo"}
xref: UMLS:CN203229 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010144 {source="MONDOLEX:0017491", source="Orphanet:295079"} ! tibial hemimelia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203229
property_value: exactMatch Orphanet:295079

[Term]
id: MONDO:0017492
name: fibular hemimelia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295081"}
synonym: "fibular longitudinal meromelia, unilateral" EXACT [Orphanet:295081]
xref: ICD10:Q72.6 {source="Orphanet:295081", source="ORDO:295081/attributed", source="ORDO:295081/ntbt"}
xref: Orphanet:295081 {source="MONDO:equivalentTo"}
is_a: MONDO:0019672 {source="MONDOLEX:0017492", source="Orphanet:295081"} ! fibular hemimelia
property_value: exactMatch Orphanet:295081

[Term]
id: MONDO:0017493
name: fibular hemimelia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295083"}
synonym: "fibular longitudinal meromelia, bilateral" EXACT [Orphanet:295083]
xref: ICD10:Q72.6 {source="ORDO:295083/attributed", source="ORDO:295083/ntbt", source="Orphanet:295083"}
xref: Orphanet:295083 {source="MONDO:equivalentTo"}
is_a: MONDO:0019672 {source="MONDOLEX:0017493", source="Orphanet:295083"} ! fibular hemimelia
property_value: exactMatch Orphanet:295083

[Term]
id: MONDO:0017494
name: congenital absence of upper arm and forearm with hand present, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295085"}
synonym: "humero-radio-ulnar intercalary transverse meromelia, unilateral" EXACT [Orphanet:295085]
xref: ICD10:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295085", source="ORDO:295085/attributed", source="ORDO:295085/ntbt"}
xref: Orphanet:295085 {source="MONDO:equivalentTo"}
is_a: MONDO:0017441 {source="Orphanet:295085"} ! congenital absence of upper arm and forearm with hand present
property_value: exactMatch Orphanet:295085

[Term]
id: MONDO:0017495
name: congenital absence of upper arm and forearm with hand present, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295087"}
synonym: "humero-radio-ulnar intercalary transverse meromelia, bilateral" EXACT [Orphanet:295087]
xref: ICD10:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295087", source="ORDO:295087/attributed", source="ORDO:295087/ntbt"}
xref: ICD10:Q71.13 {source="MONDO:equivalentTo"}
xref: Orphanet:295087 {source="MONDO:equivalentTo"}
is_a: MONDO:0017441 {source="ICD10:Q71.13", source="Orphanet:295087"} ! congenital absence of upper arm and forearm with hand present
property_value: exactMatch Orphanet:295087

[Term]
id: MONDO:0017496
name: congenital absence of thigh and lower leg with foot present, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295089"}
synonym: "Femorotibiofibular intercalary transverse meromelia, unilateral" EXACT [Orphanet:295089]
xref: ICD10:Q72.1 {source="MONDO:subClassOf", source="Orphanet:295089", source="ORDO:295089/attributed", source="ORDO:295089/ntbt"}
xref: Orphanet:295089 {source="MONDO:equivalentTo"}
is_a: MONDO:0017442 {source="Orphanet:295089"} ! congenital absence of thigh and lower leg with foot present
property_value: exactMatch Orphanet:295089

[Term]
id: MONDO:0017497
name: congenital absence of thigh and lower leg with foot present, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295091"}
synonym: "Femorotibiofibular intercalary transverse meromelia, bilateral" EXACT [Orphanet:295091]
xref: ICD10:Q72.1 {source="MONDO:subClassOf", source="ORDO:295091/attributed", source="ORDO:295091/ntbt", source="Orphanet:295091"}
xref: ICD10:Q72.13 {source="MONDO:equivalentTo"}
xref: Orphanet:295091 {source="MONDO:equivalentTo"}
is_a: MONDO:0017442 {source="ICD10:Q72.13", source="Orphanet:295091"} ! congenital absence of thigh and lower leg with foot present
property_value: exactMatch Orphanet:295091

[Term]
id: MONDO:0017498
name: congenital absence of both forearm and hand, unilateral
def: "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." [Orphanet:295093]
subset: ordo_clinical_subtype {source="Orphanet:295093"}
synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [Orphanet:295093]
xref: ICD10:Q71.2 {source="MONDO:subClassOf", source="ORDO:295093/attributed", source="ORDO:295093/ntbt", source="Orphanet:295093"}
xref: Orphanet:295093 {source="MONDO:equivalentTo"}
is_a: MONDO:0017443 {source="Orphanet:295093"} ! congenital absence of both forearm and hand
property_value: exactMatch Orphanet:295093

[Term]
id: MONDO:0017499
name: congenital absence of both forearm and hand, bilateral
def: "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." [Orphanet:295095]
subset: ordo_clinical_subtype {source="Orphanet:295095"}
synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [Orphanet:295095]
xref: ICD10:Q71.2 {source="MONDO:subClassOf", source="Orphanet:295095", source="ORDO:295095/attributed", source="ORDO:295095/ntbt"}
xref: ICD10:Q71.23 {source="MONDO:equivalentTo"}
xref: Orphanet:295095 {source="MONDO:equivalentTo"}
is_a: MONDO:0017443 {source="ICD10:Q71.23", source="Orphanet:295095"} ! congenital absence of both forearm and hand
property_value: exactMatch Orphanet:295095

[Term]
id: MONDO:0017500
name: congenital absence of both lower leg and foot, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295097"}
synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [Orphanet:295097]
xref: ICD10:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295097", source="ORDO:295097/attributed", source="ORDO:295097/ntbt"}
xref: Orphanet:295097 {source="MONDO:equivalentTo"}
is_a: MONDO:0017444 {source="Orphanet:295097"} ! congenital absence of both lower leg and foot
property_value: exactMatch Orphanet:295097

[Term]
id: MONDO:0017501
name: congenital absence of both lower leg and foot, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295099"}
synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [Orphanet:295099]
xref: ICD10:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295099", source="ORDO:295099/attributed", source="ORDO:295099/ntbt"}
xref: ICD10:Q72.23 {source="MONDO:equivalentTo"}
xref: Orphanet:295099 {source="MONDO:equivalentTo"}
is_a: MONDO:0017444 {source="ICD10:Q72.23", source="Orphanet:295099"} ! congenital absence of both lower leg and foot
property_value: exactMatch Orphanet:295099

[Term]
id: MONDO:0017502
name: acheiria, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295101"}
synonym: "congenital absence of hand, unilateral" EXACT [Orphanet:295101]
xref: ICD10:Q71.3 {source="ORDO:295101/attributed", source="ORDO:295101/ntbt", source="Orphanet:295101"}
xref: Orphanet:295101 {source="MONDO:equivalentTo"}
is_a: MONDO:0017445 {source="Orphanet:295101"} ! acheiria
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685393
property_value: exactMatch Orphanet:295101

[Term]
id: MONDO:0017503
name: acheiria, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295103"}
synonym: "congenital absence of hand, bilateral" EXACT [Orphanet:295103]
xref: ICD10:Q71.3 {source="ORDO:295103/attributed", source="ORDO:295103/ntbt", source="Orphanet:295103"}
xref: Orphanet:295103 {source="MONDO:equivalentTo"}
xref: SCTID:371189003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0017445 {source="Orphanet:295103", source="linkedlifedata", source="linkedlifedata/inferred"} ! acheiria
property_value: exactMatch http://identifiers.org/snomedct/371189003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685394
property_value: exactMatch Orphanet:295103

[Term]
id: MONDO:0017504
name: apodia, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295105"}
synonym: "congenital absence of foot, unilateral" EXACT [Orphanet:295105]
xref: ICD10:Q72.3 {source="ORDO:295105/attributed", source="ORDO:295105/ntbt", source="Orphanet:295105"}
xref: Orphanet:295105 {source="MONDO:equivalentTo"}
is_a: MONDO:0017446 {source="Orphanet:295105"} ! apodia
property_value: exactMatch Orphanet:295105

[Term]
id: MONDO:0017505
name: apodia, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295107"}
synonym: "congenital absence of foot, bilateral" EXACT [Orphanet:295107]
xref: ICD10:Q72.3 {source="ORDO:295107/attributed", source="ORDO:295107/ntbt", source="Orphanet:295107"}
xref: Orphanet:295107 {source="MONDO:equivalentTo"}
is_a: MONDO:0017446 {source="Orphanet:295107"} ! apodia
property_value: exactMatch Orphanet:295107

[Term]
id: MONDO:0017506
name: congenital absence/hypoplasia of thumb, unilateral
def: "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." [Orphanet:295110]
subset: ordo_clinical_subtype {source="Orphanet:295110"}
synonym: "thumb hypodactyly, unilateral" EXACT [Orphanet:295110]
synonym: "thumb oligodactyly, unilateral" EXACT [Orphanet:295110]
xref: ICD10:Q71.3 {source="Orphanet:295110", source="ORDO:295110/attributed", source="ORDO:295110/ntbt"}
xref: Orphanet:295110 {source="MONDO:equivalentTo"}
is_a: MONDO:0017447 {source="Orphanet:295110"} ! congenital absence/hypoplasia of thumb
property_value: exactMatch Orphanet:295110

[Term]
id: MONDO:0017507
name: congenital absence/hypoplasia of thumb, bilateral
def: "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." [Orphanet:295112]
subset: ordo_clinical_subtype {source="Orphanet:295112"}
synonym: "thumb hypodactyly, bilateral" EXACT [Orphanet:295112]
synonym: "thumb oligodactyly, bilateral" EXACT [Orphanet:295112]
xref: ICD10:Q71.3 {source="ORDO:295112/attributed", source="ORDO:295112/ntbt", source="Orphanet:295112"}
xref: Orphanet:295112 {source="MONDO:equivalentTo"}
is_a: MONDO:0017447 {source="Orphanet:295112"} ! congenital absence/hypoplasia of thumb
property_value: exactMatch Orphanet:295112

[Term]
id: MONDO:0017508
name: congenital absence/hypoplasia of fingers excluding thumb, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295114"}
synonym: "Adactyly of hand, bilateral" EXACT [Orphanet:295114]
synonym: "digits 2-5 hypodactyly, bilateral" EXACT [Orphanet:295114]
synonym: "digits 2-5 oligodactyly, bilateral" EXACT [Orphanet:295114]
xref: ICD10:Q71.3 {source="ORDO:295114/attributed", source="ORDO:295114/ntbt", source="Orphanet:295114"}
xref: Orphanet:295114 {source="MONDO:equivalentTo"}
is_a: MONDO:0017448 {source="Orphanet:295114"} ! congenital absence/hypoplasia of fingers excluding thumb
property_value: exactMatch Orphanet:295114

[Term]
id: MONDO:0017509
name: adactyly of foot, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295116"}
synonym: "congenital absence of toes, unilateral" EXACT [Orphanet:295116]
xref: ICD10:Q72.8 {source="ORDO:295116/attributed", source="ORDO:295116/ntbt", source="Orphanet:295116"}
xref: Orphanet:295116 {source="MONDO:equivalentTo"}
is_a: MONDO:0018563 {source="Orphanet:295116"} ! adactyly of foot
property_value: exactMatch Orphanet:295116

[Term]
id: MONDO:0017510
name: adactyly of foot, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295118"}
synonym: "congenital absence of toes, bilateral" EXACT [Orphanet:295118]
xref: ICD10:Q72.8 {source="ORDO:295118/attributed", source="ORDO:295118/ntbt", source="Orphanet:295118"}
xref: Orphanet:295118 {source="MONDO:equivalentTo"}
is_a: MONDO:0018563 {source="Orphanet:295118"} ! adactyly of foot
property_value: exactMatch Orphanet:295118

[Term]
id: MONDO:0017511
name: split hand, unilateral
def: "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295120]
subset: ordo_clinical_subtype {source="Orphanet:295120"}
xref: ICD10:Q71.6 {source="Orphanet:295120", source="ORDO:295120/attributed", source="ORDO:295120/ntbt"}
xref: Orphanet:295120 {source="MONDO:equivalentTo"}
is_a: MONDO:0017449 {source="Orphanet:295120"} ! split hand (disease)
property_value: exactMatch Orphanet:295120

[Term]
id: MONDO:0017512
name: split hand, bilateral
def: "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295122]
subset: ordo_clinical_subtype {source="Orphanet:295122"}
xref: ICD10:Q71.6 {source="Orphanet:295122", source="ORDO:295122/attributed", source="ORDO:295122/ntbt"}
xref: Orphanet:295122 {source="MONDO:equivalentTo"}
is_a: MONDO:0017449 {source="Orphanet:295122"} ! split hand (disease)
property_value: exactMatch Orphanet:295122

[Term]
id: MONDO:0017513
name: split foot, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295124"}
xref: ICD10:Q72.7 {source="ORDO:295124/attributed", source="ORDO:295124/ntbt", source="Orphanet:295124"}
xref: Orphanet:295124 {source="MONDO:equivalentTo"}
is_a: MONDO:0017450 {source="Orphanet:295124"} ! split foot (disease)
property_value: exactMatch Orphanet:295124

[Term]
id: MONDO:0017514
name: split foot, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295126"}
xref: ICD10:Q72.7 {source="ORDO:295126/attributed", source="ORDO:295126/ntbt", source="Orphanet:295126"}
xref: ICD10:Q72.73 {source="MONDO:equivalentTo"}
xref: Orphanet:295126 {source="MONDO:equivalentTo"}
is_a: MONDO:0017450 {source="Orphanet:295126"} ! split foot (disease)
property_value: exactMatch Orphanet:295126

[Term]
id: MONDO:0017515
name: brachydactyly of fingers, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295128"}
synonym: "short fingers, unilateral" EXACT [Orphanet:295128]
xref: ICD10:Q71.8 {source="ORDO:295128/attributed", source="ORDO:295128/ntbt", source="Orphanet:295128"}
xref: Orphanet:295128 {source="MONDO:equivalentTo"}
is_a: MONDO:0017451 {source="MONDOLEX:0017515", source="Orphanet:295128"} ! non-syndromic brachydactyly of fingers
property_value: exactMatch Orphanet:295128

[Term]
id: MONDO:0017516
name: brachydactyly of fingers, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295130"}
synonym: "short fingers, bilateral" EXACT [Orphanet:295130]
xref: ICD10:Q71.8 {source="Orphanet:295130", source="ORDO:295130/attributed", source="ORDO:295130/ntbt"}
xref: Orphanet:295130 {source="MONDO:equivalentTo"}
is_a: MONDO:0017451 {source="MONDOLEX:0017516", source="Orphanet:295130"} ! non-syndromic brachydactyly of fingers
property_value: exactMatch Orphanet:295130

[Term]
id: MONDO:0017517
name: brachydactyly of toes, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295132"}
synonym: "short toes, unilateral" EXACT [Orphanet:295132]
xref: ICD10:Q72.8 {source="Orphanet:295132", source="ORDO:295132/attributed", source="ORDO:295132/ntbt"}
xref: Orphanet:295132 {source="MONDO:equivalentTo"}
is_a: MONDO:0017452 {source="MONDOLEX:0017517", source="Orphanet:295132"} ! non-syndromic brachydactyly of toes
property_value: exactMatch Orphanet:295132

[Term]
id: MONDO:0017518
name: brachydactyly of toes, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295134"}
synonym: "short toes, bilateral" EXACT [Orphanet:295134]
xref: ICD10:Q72.8 {source="ORDO:295134/attributed", source="ORDO:295134/ntbt", source="Orphanet:295134"}
xref: Orphanet:295134 {source="MONDO:equivalentTo"}
is_a: MONDO:0017452 {source="MONDOLEX:0017518", source="Orphanet:295134"} ! non-syndromic brachydactyly of toes
property_value: exactMatch Orphanet:295134

[Term]
id: MONDO:0017519
name: symbrachydactyly of hand and foot, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295136"}
xref: ICD10:Q73.8 {source="ORDO:295136/attributed", source="ORDO:295136/ntbt", source="Orphanet:295136"}
xref: Orphanet:295136 {source="MONDO:equivalentTo"}
xref: UMLS:CN203252 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015516 {source="Orphanet:295136"} ! symbrachydactyly of hands and feet
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203252
property_value: exactMatch Orphanet:295136

[Term]
id: MONDO:0017520
name: symbrachydactyly of hand and foot, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295138"}
xref: ICD10:Q73.8 {source="ORDO:295138/attributed", source="ORDO:295138/ntbt", source="Orphanet:295138"}
xref: Orphanet:295138 {source="MONDO:equivalentTo"}
xref: UMLS:CN203253 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015516 {source="Orphanet:295138"} ! symbrachydactyly of hands and feet
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203253
property_value: exactMatch Orphanet:295138

[Term]
id: MONDO:0017521
name: hyperphalangy, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295140"}
synonym: "hyperphalangy in digits 2-5" EXACT [Orphanet:295140]
synonym: "supernumerary phalanges, unilateral" EXACT [Orphanet:295140]
synonym: "supernumerary phalanx, unilateral" EXACT [Orphanet:295140]
xref: ICD10:Q74.8 {source="Orphanet:295140", source="ORDO:295140/attributed", source="ORDO:295140/ntbt"}
xref: Orphanet:295140 {source="MONDO:equivalentTo"}
is_a: MONDO:0017455 {source="Orphanet:295140"} ! hyperphalangy
property_value: exactMatch Orphanet:295140

[Term]
id: MONDO:0017522
name: hyperphalangy, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295142"}
synonym: "supernumerary phalanges, bilateral" EXACT [Orphanet:295142]
synonym: "supernumerary phalanx, bilateral" EXACT [Orphanet:295142]
xref: ICD10:Q74.8 {source="Orphanet:295142", source="ORDO:295142/attributed", source="ORDO:295142/ntbt"}
xref: Orphanet:295142 {source="MONDO:equivalentTo"}
is_a: MONDO:0017455 {source="Orphanet:295142"} ! hyperphalangy
property_value: exactMatch Orphanet:295142

[Term]
id: MONDO:0017523
name: polydactyly of a biphalangeal thumb, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295144"}
synonym: "preaxial polydactyly type 1, unilateral" EXACT [Orphanet:295144]
xref: ICD10:Q69.1 {source="Orphanet:295144", source="ORDO:295144/attributed", source="ORDO:295144/ntbt"}
xref: Orphanet:295144 {source="MONDO:equivalentTo"}
xref: UMLS:CN203254 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008269 {source="Orphanet:295144"} ! polydactyly of a biphalangeal thumb
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203254
property_value: exactMatch Orphanet:295144

[Term]
id: MONDO:0017524
name: polydactyly of a biphalangeal thumb, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295146"}
synonym: "preaxial polydactyly type 1, bilateral" EXACT [Orphanet:295146]
xref: ICD10:Q69.1 {source="ORDO:295146/attributed", source="ORDO:295146/ntbt", source="Orphanet:295146"}
xref: Orphanet:295146 {source="MONDO:equivalentTo"}
xref: UMLS:CN203255 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008269 {source="Orphanet:295146"} ! polydactyly of a biphalangeal thumb
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203255
property_value: exactMatch Orphanet:295146

[Term]
id: MONDO:0017525
name: polydactyly of a triphalangeal thumb, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295148"}
synonym: "preaxial polydactyly type 2, unilateral" EXACT [Orphanet:295148]
synonym: "unilateral PPD2" EXACT [Orphanet:295148]
xref: ICD10:Q69.1 {source="ORDO:295148/attributed", source="ORDO:295148/ntbt", source="Orphanet:295148"}
xref: Orphanet:295148 {source="MONDO:equivalentTo"}
xref: UMLS:CN203256 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008270 {source="Orphanet:295148"} ! polydactyly of a triphalangeal thumb
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203256
property_value: exactMatch Orphanet:295148

[Term]
id: MONDO:0017526
name: polydactyly of a triphalangeal thumb, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295150"}
synonym: "bilateral PPD2" EXACT [Orphanet:295150]
synonym: "preaxial polydactyly type 2, bilateral" EXACT [Orphanet:295150]
xref: ICD10:Q69.1 {source="Orphanet:295150", source="ORDO:295150/attributed", source="ORDO:295150/ntbt"}
xref: Orphanet:295150 {source="MONDO:equivalentTo"}
xref: UMLS:CN203257 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008270 {source="Orphanet:295150"} ! polydactyly of a triphalangeal thumb
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203257
property_value: exactMatch Orphanet:295150

[Term]
id: MONDO:0017527
name: polydactyly of an index finger, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295152"}
synonym: "preaxial polydactyly type 3, unilateral" EXACT [Orphanet:295152]
xref: ICD10:Q69.0 {source="Orphanet:295152", source="ORDO:295152/attributed", source="ORDO:295152/ntbt"}
xref: Orphanet:295152 {source="MONDO:equivalentTo"}
xref: UMLS:CN203258 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008271 {source="Orphanet:295152"} ! polydactyly of an index finger
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203258
property_value: exactMatch Orphanet:295152

[Term]
id: MONDO:0017528
name: polydactyly of an index finger, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295154"}
synonym: "preaxial polydactyly type 3, bilateral" EXACT [Orphanet:295154]
xref: ICD10:Q69.0 {source="Orphanet:295154", source="ORDO:295154/attributed", source="ORDO:295154/ntbt"}
xref: Orphanet:295154 {source="MONDO:equivalentTo"}
xref: UMLS:CN203259 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008271 {source="Orphanet:295154"} ! polydactyly of an index finger
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203259
property_value: exactMatch Orphanet:295154

[Term]
id: MONDO:0017529
name: polysyndactyly, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295159"}
synonym: "preaxial polydactyly type 4, unilateral" EXACT [Orphanet:295159]
xref: ICD10:Q70.4 {source="ORDO:295159/attributed", source="ORDO:295159/ntbt", source="Orphanet:295159"}
xref: Orphanet:295159 {source="MONDO:equivalentTo"}
xref: UMLS:CN203260 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008272 {source="Orphanet:295159"} ! polysyndactyly 4
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203260
property_value: exactMatch Orphanet:295159

[Term]
id: MONDO:0017530
name: polysyndactyly, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295161"}
synonym: "preaxial polydactyly type 4, bilateral" EXACT [Orphanet:295161]
xref: ICD10:Q70.4 {source="Orphanet:295161", source="ORDO:295161/attributed", source="ORDO:295161/ntbt"}
xref: Orphanet:295161 {source="MONDO:equivalentTo"}
xref: UMLS:CN203261 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008272 {source="Orphanet:295161"} ! polysyndactyly 4
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203261
property_value: exactMatch Orphanet:295161

[Term]
id: MONDO:0017531
name: postaxial polydactyly type A, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295163"}
xref: ICD10:Q69.0 {source="Orphanet:295163", source="ORDO:295163/attributed", source="ORDO:295163/ntbt"}
xref: Orphanet:295163 {source="MONDO:equivalentTo"}
xref: UMLS:CN203262 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019673 {source="Orphanet:295163"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203262
property_value: exactMatch Orphanet:295163

[Term]
id: MONDO:0017532
name: postaxial polydactyly type A, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295165"}
xref: ICD10:Q69.0 {source="Orphanet:295165", source="ORDO:295165/attributed", source="ORDO:295165/ntbt"}
xref: Orphanet:295165 {source="MONDO:equivalentTo"}
xref: UMLS:CN203263 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019673 {source="Orphanet:295165"} ! postaxial polydactyly type A (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203263
property_value: exactMatch Orphanet:295165

[Term]
id: MONDO:0017533
name: postaxial polydactyly type B, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295167"}
xref: ICD10:Q69.0 {source="ORDO:295167/attributed", source="ORDO:295167/ntbt", source="Orphanet:295167"}
xref: Orphanet:295167 {source="MONDO:equivalentTo"}
xref: UMLS:CN203264 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019674 {source="Orphanet:295167"} ! postaxial polydactyly type B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203264
property_value: exactMatch Orphanet:295167

[Term]
id: MONDO:0017534
name: postaxial polydactyly type B, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295169"}
xref: ICD10:Q69.0 {source="ORDO:295169/attributed", source="ORDO:295169/ntbt", source="Orphanet:295169"}
xref: Orphanet:295169 {source="MONDO:equivalentTo"}
xref: UMLS:CN203265 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019674 {source="Orphanet:295169"} ! postaxial polydactyly type B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203265
property_value: exactMatch Orphanet:295169

[Term]
id: MONDO:0017535
name: central polydactyly of fingers, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295171"}
synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [Orphanet:295171]
synonym: "mirror hand, unilateral" EXACT [Orphanet:295171]
xref: ICD10:Q69.0 {source="ORDO:295171/attributed", source="ORDO:295171/ntbt", source="Orphanet:295171"}
xref: Orphanet:295171 {source="MONDO:equivalentTo"}
is_a: MONDO:0017456 {source="Orphanet:295171"} ! central polydactyly of fingers
property_value: exactMatch Orphanet:295171

[Term]
id: MONDO:0017536
name: central polydactyly of fingers, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295173"}
synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [Orphanet:295173]
synonym: "mirror hand, bilateral" EXACT [Orphanet:295173]
xref: ICD10:Q69.0 {source="Orphanet:295173", source="ORDO:295173/attributed", source="ORDO:295173/ntbt"}
xref: Orphanet:295173 {source="MONDO:equivalentTo"}
is_a: MONDO:0017456 {source="Orphanet:295173"} ! central polydactyly of fingers
property_value: exactMatch Orphanet:295173

[Term]
id: MONDO:0017537
name: Preaxial polydactyly of toes, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295175"}
synonym: "bifid great toes, unilateral" EXACT [Orphanet:295175]
synonym: "bifid halluces, unilateral" EXACT [Orphanet:295175]
synonym: "bifid hallux, unilateral" EXACT [Orphanet:295175]
xref: ICD10:Q69.2 {source="Orphanet:295175", source="ORDO:295175/attributed", source="ORDO:295175/ntbt"}
xref: Orphanet:295175 {source="MONDO:equivalentTo"}
is_a: MONDO:0017457 {source="Orphanet:295175"} ! Preaxial polydactyly of toes
property_value: exactMatch Orphanet:295175

[Term]
id: MONDO:0017538
name: Preaxial polydactyly of toes, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295177"}
synonym: "bifid great toes, bilateral" EXACT [Orphanet:295177]
synonym: "bifid halluces, bilateral" EXACT [Orphanet:295177]
synonym: "bifid hallux, bilateral" EXACT [Orphanet:295177]
xref: ICD10:Q69.2 {source="Orphanet:295177", source="ORDO:295177/attributed", source="ORDO:295177/ntbt"}
xref: Orphanet:295177 {source="MONDO:equivalentTo"}
is_a: MONDO:0017457 {source="Orphanet:295177"} ! Preaxial polydactyly of toes
property_value: exactMatch Orphanet:295177

[Term]
id: MONDO:0017539
name: postaxial polydactyly of toes, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295179"}
xref: ICD10:Q69.2 {source="ORDO:295179/attributed", source="ORDO:295179/ntbt", source="Orphanet:295179"}
xref: Orphanet:295179 {source="MONDO:equivalentTo"}
is_a: MONDO:0017458 {source="Orphanet:295179"} ! postaxial polydactyly of toes
property_value: exactMatch Orphanet:295179

[Term]
id: MONDO:0017540
name: postaxial polydactyly of toes, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295181"}
xref: ICD10:Q69.2 {source="ORDO:295181/attributed", source="ORDO:295181/ntbt", source="Orphanet:295181"}
xref: Orphanet:295181 {source="MONDO:equivalentTo"}
is_a: MONDO:0017458 {source="Orphanet:295181"} ! postaxial polydactyly of toes
property_value: exactMatch Orphanet:295181

[Term]
id: MONDO:0017541
name: central polydactyly of toes, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295183"}
synonym: "mesoaxial polydactyly of toes, unilateral" EXACT [Orphanet:295183]
synonym: "mirror foot, unilateral" EXACT [Orphanet:295183]
xref: ICD10:Q69.2 {source="Orphanet:295183", source="ORDO:295183/attributed", source="ORDO:295183/ntbt"}
xref: Orphanet:295183 {source="MONDO:equivalentTo"}
is_a: MONDO:0017459 {source="Orphanet:295183"} ! central polydactyly of toes
property_value: exactMatch Orphanet:295183

[Term]
id: MONDO:0017542
name: central polydactyly of toes, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295185"}
synonym: "mesoaxial polydactyly of toes, bilateral" EXACT [Orphanet:295185]
synonym: "mirror foot, bilateral" EXACT [Orphanet:295185]
xref: ICD10:Q69.2 {source="Orphanet:295185", source="ORDO:295185/attributed", source="ORDO:295185/ntbt"}
xref: Orphanet:295185 {source="MONDO:equivalentTo"}
is_a: MONDO:0017459 {source="Orphanet:295185"} ! central polydactyly of toes
property_value: exactMatch Orphanet:295185

[Term]
id: MONDO:0017543
name: zygodactyly type 2
subset: ordo_clinical_subtype {source="Orphanet:295189"}
synonym: "SD1, Lueken type" EXACT [Orphanet:295189]
synonym: "SD1b" EXACT [Orphanet:295189]
synonym: "syndactyly type 1, Lueken type" EXACT [Orphanet:295189]
synonym: "syndactyly type 1b" EXACT [Orphanet:295189]
synonym: "Zygodactyly, Lueken type" EXACT [Orphanet:295189]
xref: ICD10:Q70.0 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"}
xref: ICD10:Q70.1 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"}
xref: ICD10:Q70.2 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"}
xref: ICD10:Q70.3 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"}
xref: Orphanet:295189 {source="MONDO:equivalentTo"}
xref: UMLS:CN203275 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008512 {source="MONDOLEX:0017543", source="Orphanet:295189"} ! syndactyly type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203275
property_value: exactMatch Orphanet:295189

[Term]
id: MONDO:0017544
name: zygodactyly type 3
subset: ordo_clinical_subtype {source="Orphanet:295191"}
synonym: "SD1, Montagu type" EXACT [Orphanet:295191]
synonym: "SD1c" EXACT [Orphanet:295191]
synonym: "syndactyly type 1, Montagu type" EXACT [Orphanet:295191]
synonym: "syndactyly type 1c" EXACT [Orphanet:295191]
synonym: "Zygodactyly, Montagu type" EXACT [Orphanet:295191]
xref: ICD10:Q70.0 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"}
xref: ICD10:Q70.1 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"}
xref: ICD10:Q70.2 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"}
xref: ICD10:Q70.3 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"}
xref: Orphanet:295191 {source="MONDO:equivalentTo"}
xref: UMLS:CN203276 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008512 {source="MONDOLEX:0017544", source="Orphanet:295191"} ! syndactyly type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203276
property_value: exactMatch Orphanet:295191

[Term]
id: MONDO:0017545
name: zygodactyly type 4
subset: ordo_clinical_subtype {source="Orphanet:295193"}
synonym: "SD1, Castilla type" EXACT [Orphanet:295193]
synonym: "SD1d" EXACT [Orphanet:295193]
synonym: "syndactyly type 1, Castilla type" EXACT [Orphanet:295193]
synonym: "syndactyly type 1d" EXACT [Orphanet:295193]
synonym: "Zygodactyly, Castilla type" EXACT [Orphanet:295193]
xref: ICD10:Q70.3 {source="ORDO:295193/attributed", source="ORDO:295193/ntbt", source="Orphanet:295193"}
xref: Orphanet:295193 {source="MONDO:equivalentTo"}
xref: UMLS:CN203277 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008512 {source="MONDOLEX:0017545", source="Orphanet:295193"} ! syndactyly type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203277
property_value: exactMatch Orphanet:295193

[Term]
id: MONDO:0017546
name: congenital vertical talus, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295201"}
xref: ICD10:Q66.8 {source="ORDO:295201/attributed", source="ORDO:295201/ntbt", source="Orphanet:295201"}
xref: Orphanet:295201 {source="MONDO:equivalentTo"}
is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus
property_value: exactMatch Orphanet:295201

[Term]
id: MONDO:0017547
name: congenital vertical talus, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295203"}
xref: ICD10:Q66.8 {source="ORDO:295203/attributed", source="ORDO:295203/ntbt", source="Orphanet:295203"}
xref: Orphanet:295203 {source="MONDO:equivalentTo"}
is_a: MONDO:0008652 {source="Orphanet:295203"} ! congenital vertical talus
property_value: exactMatch Orphanet:295203

[Term]
id: MONDO:0017548
name: humero-radio-ulnar synostosis, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295205"}
synonym: "humero-radio-ulnar fusion, unilateral" EXACT [Orphanet:295205]
xref: ICD10:Q74.0 {source="ORDO:295205/attributed", source="ORDO:295205/ntbt", source="Orphanet:295205"}
xref: Orphanet:295205 {source="MONDO:equivalentTo"}
is_a: MONDO:0017983 {source="Orphanet:295205"} ! humero-radio-ulnar synostosis
property_value: exactMatch Orphanet:295205

[Term]
id: MONDO:0017549
name: humero-radio-ulnar synostosis, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295207"}
synonym: "humero-radio-ulnar fusion, bilateral" EXACT [Orphanet:295207]
xref: ICD10:Q74.0 {source="Orphanet:295207", source="ORDO:295207/attributed", source="ORDO:295207/ntbt"}
xref: Orphanet:295207 {source="MONDO:equivalentTo"}
is_a: MONDO:0017983 {source="Orphanet:295207"} ! humero-radio-ulnar synostosis
property_value: exactMatch Orphanet:295207

[Term]
id: MONDO:0017550
name: humero-radial synostosis, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295209"}
synonym: "humero-radial fusion, unilateral" EXACT [Orphanet:295209]
xref: ICD10:Q74.0 {source="ORDO:295209/attributed", source="ORDO:295209/ntbt", source="Orphanet:295209"}
xref: Orphanet:295209 {source="MONDO:equivalentTo"}
is_a: MONDO:0007737 {source="MONDOLEX:0017550", source="Orphanet:295209"} ! humeroradial synostosis (disease)
property_value: exactMatch Orphanet:295209

[Term]
id: MONDO:0017551
name: humero-radial synostosis, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295211"}
synonym: "humero-radial fusion, bilateral" EXACT [Orphanet:295211]
xref: ICD10:Q74.0 {source="ORDO:295211/attributed", source="ORDO:295211/ntbt", source="Orphanet:295211"}
xref: Orphanet:295211 {source="MONDO:equivalentTo"}
is_a: MONDO:0007737 {source="MONDOLEX:0017551", source="Orphanet:295211"} ! humeroradial synostosis (disease)
property_value: exactMatch Orphanet:295211

[Term]
id: MONDO:0017552
name: humero-ulnar synostosis, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295213"}
synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213]
xref: ICD10:Q74.0 {source="ORDO:295213/attributed", source="ORDO:295213/ntbt", source="Orphanet:295213"}
xref: Orphanet:295213 {source="MONDO:equivalentTo"}
is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis
property_value: exactMatch Orphanet:295213

[Term]
id: MONDO:0017553
name: humero-ulnar synostosis, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295215"}
synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215]
xref: ICD10:Q74.0 {source="ORDO:295215/attributed", source="ORDO:295215/ntbt", source="Orphanet:295215"}
xref: Orphanet:295215 {source="MONDO:equivalentTo"}
is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis
property_value: exactMatch Orphanet:295215

[Term]
id: MONDO:0017554
name: radio-ulnar synostosis, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295217"}
synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217]
xref: ICD10:Q74.0 {source="ORDO:295217/attributed", source="ORDO:295217/ntbt", source="Orphanet:295217"}
xref: Orphanet:295217 {source="MONDO:equivalentTo"}
xref: UMLS:CN203290 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017985 {source="Orphanet:295217"} ! congenital radioulnar synostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203290
property_value: exactMatch Orphanet:295217

[Term]
id: MONDO:0017555
name: radio-ulnar synostosis, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295219"}
synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219]
xref: ICD10:Q74.0 {source="ORDO:295219/attributed", source="ORDO:295219/ntbt", source="Orphanet:295219"}
xref: Orphanet:295219 {source="MONDO:equivalentTo"}
xref: UMLS:CN203291 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017985 {source="Orphanet:295219"} ! congenital radioulnar synostosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203291
property_value: exactMatch Orphanet:295219

[Term]
id: MONDO:0017556
name: Madelung deformity, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295221"}
xref: ICD10:Q74.0 {source="Orphanet:295221", source="ORDO:295221/attributed", source="ORDO:295221/ntbt"}
xref: Orphanet:295221 {source="MONDO:equivalentTo"}
is_a: MONDO:0018154 {source="MONDOLEX:0017556", source="Orphanet:295221"} ! Madelung deformity
property_value: exactMatch Orphanet:295221

[Term]
id: MONDO:0017557
name: Madelung deformity, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295223"}
xref: ICD10:Q74.0 {source="ORDO:295223/attributed", source="ORDO:295223/ntbt", source="Orphanet:295223"}
xref: Orphanet:295223 {source="MONDO:equivalentTo"}
is_a: MONDO:0018154 {source="MONDOLEX:0017557", source="Orphanet:295223"} ! Madelung deformity
property_value: exactMatch Orphanet:295223

[Term]
id: MONDO:0017558
name: congenital elbow dislocation, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295225"}
xref: ICD10:Q68.8 {source="ORDO:295225/attributed", source="ORDO:295225/ntbt", source="Orphanet:295225"}
xref: Orphanet:295225 {source="MONDO:equivalentTo"}
is_a: MONDO:0017469 {source="Orphanet:295225"} ! congenital elbow dislocation
property_value: exactMatch Orphanet:295225

[Term]
id: MONDO:0017559
name: congenital elbow dislocation, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295227"}
xref: ICD10:Q68.8 {source="ORDO:295227/attributed", source="ORDO:295227/ntbt", source="Orphanet:295227"}
xref: Orphanet:295227 {source="MONDO:equivalentTo"}
is_a: MONDO:0017469 {source="Orphanet:295227"} ! congenital elbow dislocation
property_value: exactMatch Orphanet:295227

[Term]
id: MONDO:0017560
name: congenital genu recurvatum
def: "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." [NCIT:C103184]
subset: ordo_clinical_subtype {source="Orphanet:295229"}
synonym: "genu recurvatum" EXACT [NCIT:C103184]
synonym: "hyperextension deformity of knee" EXACT [NCIT:C103184]
synonym: "hyperextension of knee deformity" EXACT [NCIT:C103184]
xref: COHD:78241 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.2 {source="ORDO:295229/inclusion", source="Orphanet:295229", source="ORDO:295229/ntbt"}
xref: ICD9:754.40 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C103184 {source="MONDO:equivalentTo"}
xref: Orphanet:295229 {source="MONDO:equivalentTo"}
xref: SCTID:205063003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0017470 {source="Orphanet:295229"} ! congenital knee dislocation (disease)
property_value: exactMatch http://identifiers.org/snomedct/205063003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152235
property_value: exactMatch NCIT:C103184
property_value: exactMatch Orphanet:295229

[Term]
id: MONDO:0017561
name: congenital genu flexum
subset: ordo_clinical_subtype {source="Orphanet:295232"}
xref: ICD10:Q68.2 {source="Orphanet:295232", source="ORDO:295232/attributed", source="ORDO:295232/ntbt"}
xref: Orphanet:295232 {source="MONDO:equivalentTo"}
is_a: MONDO:0017470 {source="Orphanet:295232"} ! congenital knee dislocation (disease)
property_value: exactMatch Orphanet:295232

[Term]
id: MONDO:0017562
name: congenital patella dislocation, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295234"}
xref: ICD10:Q74.1 {source="ORDO:295234/attributed", source="ORDO:295234/ntbt", source="Orphanet:295234"}
xref: Orphanet:295234 {source="MONDO:equivalentTo"}
is_a: MONDO:0017471 {source="Orphanet:295234"} ! congenital patella dislocation
property_value: exactMatch Orphanet:295234

[Term]
id: MONDO:0017563
name: congenital patella dislocation, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295237"}
xref: ICD10:Q74.1 {source="ORDO:295237/attributed", source="ORDO:295237/ntbt", source="Orphanet:295237"}
xref: Orphanet:295237 {source="MONDO:equivalentTo"}
is_a: MONDO:0017471 {source="Orphanet:295237"} ! congenital patella dislocation
property_value: exactMatch Orphanet:295237

[Term]
id: MONDO:0017564
name: macrodactyly of fingers, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295239"}
synonym: "macrodactyly of hand, unilateral" EXACT [Orphanet:295239]
xref: ICD10:Q74.0 {source="ORDO:295239/attributed", source="ORDO:295239/ntbt", source="Orphanet:295239"}
xref: Orphanet:295239 {source="MONDO:equivalentTo"}
is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers
property_value: exactMatch Orphanet:295239

[Term]
id: MONDO:0017565
name: macrodactyly of fingers, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295241"}
synonym: "macrodactyly of hand, bilateral" EXACT [Orphanet:295241]
xref: ICD10:Q74.0 {source="Orphanet:295241", source="ORDO:295241/attributed", source="ORDO:295241/ntbt"}
xref: Orphanet:295241 {source="MONDO:equivalentTo"}
is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers
property_value: exactMatch Orphanet:295241

[Term]
id: MONDO:0017566
name: macrodactyly of toes, unilateral
subset: ordo_clinical_subtype {source="Orphanet:295243"}
synonym: "macrodactyly of foot, unilateral" EXACT [Orphanet:295243]
xref: ICD10:Q74.2 {source="Orphanet:295243", source="ORDO:295243/attributed", source="ORDO:295243/ntbt"}
xref: Orphanet:295243 {source="MONDO:equivalentTo"}
is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes
property_value: exactMatch Orphanet:295243

[Term]
id: MONDO:0017567
name: macrodactyly of toes, bilateral
subset: ordo_clinical_subtype {source="Orphanet:295245"}
synonym: "macrodactyly of foot, bilateral" EXACT [Orphanet:295245]
xref: ICD10:Q74.2 {source="ORDO:295245/attributed", source="ORDO:295245/ntbt", source="Orphanet:295245"}
xref: Orphanet:295245 {source="MONDO:equivalentTo"}
is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes
property_value: exactMatch Orphanet:295245

[Term]
id: MONDO:0017568
name: Prata-Liberal-Goncalves syndrome
def: "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." [Orphanet:2956]
subset: ordo_malformation_syndrome {source="Orphanet:2956"}
synonym: "acrodysplasia scoliosis" EXACT [Orphanet:2956]
synonym: "brachydactyly-scoliosis-carpal fusion syndrome" EXACT [Orphanet:2956]
xref: GARD:0000491 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:2956/attributed", source="ORDO:2956/ntbt", source="Orphanet:2956"}
xref: Orphanet:2956 {source="MONDO:equivalentTo"}
xref: UMLS:C2931761 {source="MONDO:equivalentTo", source="ORDO:2956/e", source="Orphanet:2956", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN203304 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019066 {source="Orphanet:2956", source="Orphanet:2956/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931790
property_value: exactMatch http://identifiers.org/mesh/C538180
property_value: exactMatch http://identifiers.org/mesh/C538277
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203304
property_value: exactMatch Orphanet:2956

[Term]
id: MONDO:0017569
name: de Barsy syndrome
def: "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." [Orphanet:2962]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2962"}
synonym: "autosomal recessive cutis laxa type III" RELATED [DOID:0070143]
synonym: "corneal clouding, cutis laxa and mental retardation" RELATED [GARD:0000049]
synonym: "cutis laxa growth deficiency syndrome" RELATED [GARD:0000049]
synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [DOID:0070143, Orphanet:2962]
synonym: "De Barsy syndrome" EXACT [DOID:0070143]
synonym: "progeroid syndrome of de Barsy" RELATED [GARD:0000049]
synonym: "progeroid syndrome, De Barsy type" EXACT [Orphanet:2962]
synonym: "progeroid syndrome, de Barsy type" RELATED [GARD:0000049]
xref: DOID:0070143 {source="MONDO:equivalentTo"}
xref: GARD:0000049 {source="MONDO:equivalentTo"}
xref: GARD:49 {source="DOID:0070143"}
xref: ICD10:Q87.8 {source="Orphanet:2962", source="ORDO:2962/attributed", source="ORDO:2962/ntbt"}
xref: MESH:C535990 {source="Orphanet:2962", source="ORDO:2962/e", source="MONDO:equivalentTo"}
xref: Orphanet:2962 {source="DOID:0070143", source="MONDO:equivalentTo", source="GARD:0000049"}
xref: PMID:18388779 {source="DOID:0070143"}
xref: SCTID:238826008 {source="DOID:0070143", source="MONDO:kboom-pr-0.88/0.75/0.16", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal recessive disease
is_a: MONDO:0019303 {source="Orphanet:2962"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:2962"} ! rare hereditary metabolic disease with peripheral neuropathy
relationship: excluded_subClassOf MONDO:0016175 {source="DOID:0070143", source="MESH:C535990", source="Orphanet:2962"} ! cutis laxa
relationship: excluded_subClassOf MONDO:0017355 {source="Orphanet:2962"} ! inborn disorder of proline metabolism
relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:2962"} ! neurometabolic disease
relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:2962"} ! syndromic corneal dystrophy
relationship: excluded_subClassOf MONDO:0020228 {source="Orphanet:2962"} ! cataract associated with a metabolic disease
relationship: excluded_subClassOf MONDO:0020280 {source="Orphanet:2962"} ! metabolic disease with cataract
property_value: exactMatch DOID:0070143
property_value: exactMatch http://identifiers.org/mesh/C535990
property_value: exactMatch http://identifiers.org/snomedct/238826008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268354
property_value: exactMatch Orphanet:2962

[Term]
id: MONDO:0017570
name: leukocyte adhesion deficiency
def: "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." [Orphanet:2968]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2968"}
synonym: "congenital leukocyte adherence deficiency" EXACT [DOID:6612]
synonym: "LAD" BROAD [Orphanet:2968]
xref: DOID:6612 {source="MONDO:equivalentTo"}
xref: GARD:0009544 {source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="ORDO:2968/attributed", source="ORDO:2968/ntbt", source="DOID:6612", source="Orphanet:2968"}
xref: NCIT:C27874 {source="DOID:6612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:2968 {source="DOID:6612", source="MONDO:equivalentTo"}
xref: SCTID:77358003 {source="DOID:6612", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0272187 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27874"}
is_a: MONDO:0006025 {source="DOID:6612", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015978 {source="Orphanet:2968"} ! functional neutrophil defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2064642
property_value: exactMatch DOID:6612
property_value: exactMatch http://identifiers.org/mesh/D018370
property_value: exactMatch http://identifiers.org/snomedct/77358003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242597
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272187
property_value: exactMatch NCIT:C27874
property_value: exactMatch Orphanet:2968

[Term]
id: MONDO:0017571
name: Proteus-like syndrome
def: "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." [Orphanet:2969]
subset: gard_rare
subset: ordo_disease {source="Orphanet:2969"}
synonym: "Cohen-Hayden syndrome" EXACT [Orphanet:2969]
synonym: "Proteus like syndrome mental retardation eye defect" RELATED [GARD:0004525]
xref: GARD:0004525 {source="MONDO:equivalentTo"}
xref: GARD:0012801 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.3 {source="ORDO:2969/attributed", source="ORDO:2969/ntbt", source="Orphanet:2969"}
xref: Orphanet:2969 {source="MONDO:equivalentTo"}
xref: SCTID:716862002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015950 {source="Orphanet:2969"} ! inherited skin tumor
relationship: disease_shares_features_of MONDO:0008318 ! Proteus syndrome
property_value: exactMatch http://identifiers.org/snomedct/716862002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866398
property_value: exactMatch Orphanet:2969

[Term]
id: MONDO:0017572
name: tick-borne encephalitis
def: "tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." [Orphanet:297]
subset: gard_rare {source="GARD:0005216"}
subset: ordo_disease {source="Orphanet:297"}
synonym: "central European encephalitis" EXACT [DOID:0050175]
synonym: "Far Eastern TBE" EXACT [DOID:0050175]
synonym: "Russian spring-summer encephalitis" EXACT [DOID:0050175]
synonym: "Siberian tick-borne encephalitis" EXACT [DOID:0050175]
synonym: "taiga encephalitis" EXACT [DOID:0050175, MTHICD9_2006:063.0]
synonym: "TBE" EXACT [Orphanet:297]
synonym: "Tick-borne viral encephalitis" EXACT [NCIT:C34579]
synonym: "west-Siberian encephalitis" EXACT [DOID:0050175]
synonym: "Western European tick-borne encephalitis" EXACT [DOID:0050175]
xref: DOID:0050175 {source="MONDO:equivalentTo"}
xref: EFO:1001309 {source="MONDO:equivalentTo"}
xref: GARD:0005216 {source="MONDO:equivalentTo"}
xref: ICD10:A84.0 {source="ORDO:297/btnt", source="Orphanet:297"}
xref: ICD10:A84.1 {source="ORDO:297/btnt", source="Orphanet:297", source="DOID:0050175"}
xref: ICD10:A84.8 {source="ORDO:297/btnt", source="Orphanet:297"}
xref: ICD10:A84.9 {source="ORDO:297/btnt", source="Orphanet:297"}
xref: ICD9:063.2 {source="DOID:0050175"}
xref: MedDRA:10043848 {source="ORDO:297/e", source="Orphanet:297"}
xref: MESH:D004675 {source="MONDO:equivalentTo", source="ORDO:297/e", source="Orphanet:297", source="DOID:0050175"}
xref: NCIT:C34579 {source="MONDO:equivalentTo"}
xref: Orphanet:297 {source="MONDO:equivalentTo"}
xref: UMLS:C0014061 {source="MONDO:equivalentTo", source="ORDO:297/e", source="Orphanet:297"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C34579", source="Orphanet:297"} ! viral encephalitis
is_a: MONDO:0015659 {source="Orphanet:297"} ! infectious disease with epilepsy
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: closeMatch http://identifiers.org/snomedct/16901001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014054
property_value: exactMatch DOID:0050175
property_value: exactMatch http://identifiers.org/meddra/10043848
property_value: exactMatch http://identifiers.org/mesh/D004675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014061
property_value: exactMatch NCIT:C34579
property_value: exactMatch Orphanet:297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis xsd:anyURI {source="GARD:0005216"}

[Term]
id: MONDO:0017573
name: 46,XX disorder of sex development-anorectal anomalies syndrome
def: "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." [Orphanet:2973]
subset: ordo_malformation_syndrome {source="Orphanet:2973"}
synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [Orphanet:2973]
xref: ICD10:Q56.2 {source="Orphanet:2973", source="ORDO:2973/attributed", source="ORDO:2973/ntbt"}
xref: Orphanet:2973 {source="MONDO:equivalentTo"}
xref: UMLS:CN203326 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015246 {source="Orphanet:2973"} ! syndromic anorectal malformation
is_a: MONDO:0015846 {source="Orphanet:2973"} ! syndromic uterovaginal malformation
is_a: MONDO:0017965 {source="Orphanet:2973"} ! syndrome with 46,XX disorder of sex development
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203326
property_value: exactMatch Orphanet:2973

[Term]
id: MONDO:0017574
name: chronic intestinal pseudoobstruction
def: "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." [Orphanet:2978]
subset: gard_rare {source="GARD:0012744"}
subset: ordo_clinical_syndrome {source="Orphanet:2978"}
synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern]
synonym: "cipo" EXACT [Orphanet:2978]
synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic]
xref: GARD:0012744 {source="MONDO:equivalentTo"}
xref: ICD10:K59.8 {source="ORDO:2978/attributed", source="ORDO:2978/ntbt", source="Orphanet:2978"}
xref: Orphanet:2978 {source="MONDO:equivalentTo"}
xref: SCTID:235828008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002803 ! intestinal pseudo-obstruction
is_a: MONDO:0021189 {source="Orphanet:2978"} ! intestinal motility disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/235828008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238062
property_value: exactMatch Orphanet:2978
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction xsd:anyURI {source="GARD:0012744"}

[Term]
id: MONDO:0017575
name: mitochondrial neurogastrointestinal encephalomyopathy
def: "Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." [Orphanet:298]
subset: gard_rare
subset: ordo_disease {source="Orphanet:298"}
synonym: "Mitochondrial neurogastrointestinal encephalopathy" EXACT [NCIT:C119678]
synonym: "Mitochondrial neurogastrointestinal encephalopathy" RELATED [NCIT:C119678]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920]
synonym: "mitochondrial Neurogastrointestingal encephalopathy" EXACT [NCIT:C119678]
synonym: "MNGIE" EXACT [GARD:0009920, Orphanet:298]
synonym: "MNGIE syndrome" RELATED [GARD:0009920]
synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920]
synonym: "oculogastrointestinal muscular dystrophy" RELATED [GARD:0009920]
synonym: "OGIMD" RELATED [GARD:0009920]
synonym: "POLIP" RELATED [GARD:0009920]
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" RELATED [GARD:0009920]
synonym: "thymidine phosphorylase deficiency" RELATED [GARD:0009920]
xref: GARD:0009920 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:298/attributed", source="ORDO:298/ntbt", source="Orphanet:298"}
xref: MESH:C537477 {source="MONDO:equivalentTo"}
xref: NCIT:C119678 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:298 {source="MONDO:equivalentTo", source="GARD:0009920"}
xref: SCTID:718214007 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="MESH:C537477/inferred", source="Orphanet:298", source="Orphanet:298/inferred"} ! inborn mitochondrial myopathy
is_a: MONDO:0015188 {source="Orphanet:298", source="Orphanet:298/inferred"} ! metabolic disease with intestinal involvement
is_a: MONDO:0016402 {source="Orphanet:298"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:298"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0018121 {source="Orphanet:298", source="Orphanet:298/inferred"} ! mitochondrial DNA maintenance syndrome
is_a: MONDO:0019238 {source="Orphanet:298"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0020169 {source="Orphanet:298"} ! rare disorder with ptosis
is_a: MONDO:0020259 ! myopathy with eye involvement
is_a: MONDO:0020265 {source="Orphanet:298", source="Orphanet:298/inferred"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0872218
property_value: exactMatch http://identifiers.org/mesh/C537477
property_value: exactMatch http://identifiers.org/snomedct/718214007
property_value: exactMatch NCIT:C119678
property_value: exactMatch Orphanet:298
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome xsd:anyURI {source="GARD:0009920"}

[Term]
id: MONDO:0017576
name: 46,XX disorder of sex development
def: "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." [NCIT:C127169]
subset: ordo_group_of_disorders {source="Orphanet:2982"}
synonym: "46,XX differences of Sex development" EXACT [NCIT:C127169]
synonym: "46,XX disorders of Sex development" EXACT [NCIT:C127169]
synonym: "46,XX DSD" EXACT [Orphanet:2982]
synonym: "female pseudohermaphroditism" EXACT [Orphanet:2982]
xref: ICD10:Q56.2 {source="Orphanet:2982", source="ORDO:2982/ntbt"}
xref: MESH:D058489 {source="Orphanet:2982", source="ORDO:2982/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C127169 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:2982 {source="MONDO:equivalentTo"}
xref: SCTID:8800006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.21"}
xref: UMLS:C2936403 {source="Orphanet:2982", source="ORDO:2982/e", source="MONDO:equivalentTo", source="NCIT:C127169"}
xref: UMLS:CN776919 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002145 {source="MESH:D058489", source="NCIT:C127169", source="Orphanet:2982"} ! sex differentiation disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238394
property_value: exactMatch http://identifiers.org/mesh/D058489
property_value: exactMatch http://identifiers.org/snomedct/8800006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776919
property_value: exactMatch NCIT:C127169
property_value: exactMatch Orphanet:2982

[Term]
id: MONDO:0017577
name: spontaneous periodic hypothermia
def: "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." [Orphanet:29822]
subset: ordo_disease {source="Orphanet:29822"}
synonym: "episodic spontaneous hypothermia" EXACT [Orphanet:29822]
synonym: "recurrent spontaneous hypothermia with hypoplasia of the corpus callosum" RELATED [GARD:0004815]
synonym: "Shapiro syndrome" EXACT [Orphanet:29822]
synonym: "Shapiro's syndrome" RELATED [GARD:0004815]
synonym: "spontaneous periodic hypothermia syndrome" RELATED [GARD:0004815]
synonym: "spontaneous recurrent hypothermia syndrome" RELATED [GARD:0004815]
xref: GARD:0004815 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G90.8 {source="ORDO:29822/ntbt", source="Orphanet:29822"}
xref: MESH:C537594 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:29822 {source="MONDO:equivalentTo"}
xref: UMLS:C2931542 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:29822"}
is_a: MONDO:0005071 {source="Orphanet:29822"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C537594
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931542
property_value: exactMatch Orphanet:29822

[Term]
id: MONDO:0017578
name: disorder of thiamine metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:298644"}
xref: Orphanet:298644 {source="MONDO:equivalentTo"}
xref: UMLS:CN227150 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017758 {source="Orphanet:298644"} ! disorder of vitamin and non-protein cofactor absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227150
property_value: exactMatch Orphanet:298644

[Term]
id: MONDO:0017579
name: Baraitser-Winter cerebrofrontofacial syndrome
def: "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients." [Orphanet:2995]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:2995"}
synonym: "Baraitser-winter syndrome" EXACT [MONDO:0000719]
synonym: "BRWS" RELATED [GARD:0005279]
synonym: "cerebro-frontofacial syndrome, type 3" RELATED [GARD:0005279]
synonym: "Fryns-Aftimos syndrome" RELATED [GARD:0005279]
synonym: "iris coloboma with ptosis hypertelorism and mental retardation" RELATED [GARD:0005279]
synonym: "trigonocephaly ptosis coloboma" RELATED [GARD:0005279]
synonym: "trigonocephaly ptosis mental retardation" RELATED [GARD:0005279]
xref: DOID:0060229 {source="MONDO:equivalentTo"}
xref: GARD:0005279 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:2995", source="ORDO:2995/attributed", source="ORDO:2995/ntbt", source="DOID:0060229"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:243310 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:2995 {source="MONDO:equivalentTo"}
xref: SCTID:702410002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.52"}
is_a: MONDO:0015147 {source="Orphanet:2995"} ! other syndrome with lissencephaly as a major feature
is_a: MONDO:0015159 {source="Orphanet:2995"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020169 {source="Orphanet:2995"} ! rare disorder with ptosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855722
property_value: exactMatch DOID:0060229
property_value: exactMatch http://identifiers.org/snomedct/702410002
property_value: exactMatch Orphanet:2995
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome xsd:anyURI {source="GARD:0005279"}

[Term]
id: MONDO:0017580
name: 11p15.4 microduplication syndrome
def: "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." [Orphanet:300305]
subset: ordo_malformation_syndrome {source="Orphanet:300305"}
synonym: "dup(11)p(15.4)" EXACT [Orphanet:300305]
synonym: "trisomy 11p15.4" EXACT [Orphanet:300305]
xref: ICD10:Q92.3 {source="ORDO:300305/attributed", source="ORDO:300305/ntbt", source="Orphanet:300305"}
xref: Orphanet:300305 {source="MONDO:equivalentTo"}
xref: UMLS:CN203376 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:300305", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:300305"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016948 {source="Orphanet:300305"} ! partial duplication of the short arm of chromosome 11
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203376
property_value: exactMatch Orphanet:300305

[Term]
id: MONDO:0017581
name: familial infantile gigantism
subset: ordo_disease {source="Orphanet:300373"}
synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373]
synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373]
synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373]
synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373]
xref: ICD10:E22.0 {source="ORDO:300373/attributed", source="ORDO:300373/ntbt", source="Orphanet:300373"}
xref: Orphanet:300373 {source="MONDO:equivalentTo"}
xref: UMLS:CN203384 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015889 {source="Orphanet:300373"} ! rare hypothalamic or pituitary disease
is_a: MONDO:0015968 {source="Orphanet:300373"} ! rare genetic hypothalamic or pituitary disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203384
property_value: exactMatch Orphanet:300373

[Term]
id: MONDO:0017582
name: pituitary adenocarcinoma (disease)
def: "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." [NCIT:C4536]
subset: ordo_disease {source="Orphanet:300385"}
synonym: "cancer of pituitary" EXACT [NCIT:C4536]
synonym: "cancer of pituitary gland" EXACT [NCIT:C4536]
synonym: "cancer of the pituitary" EXACT [NCIT:C4536]
synonym: "cancer of the pituitary gland" EXACT [NCIT:C4536]
synonym: "carcinoma of pituitary" EXACT [NCIT:C4536]
synonym: "carcinoma of pituitary gland" EXACT [NCIT:C4536]
synonym: "carcinoma of the pituitary" EXACT [NCIT:C4536]
synonym: "carcinoma of the pituitary gland" EXACT [DOID:4916, NCIT:C4536]
synonym: "pituitary carcinoma" EXACT [MONDO:ambiguous, NCIT:C4536]
synonym: "pituitary gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4536]
synonym: "pituitary gland cancer" EXACT [NCIT:C4536]
synonym: "pituitary gland cancer, NOS" RELATED EXCLUDE [NCIT:C4536]
synonym: "pituitary gland carcinoma" EXACT [NCIT:C4536]
synonym: "PTCA" RELATED [ONCOTREE:PTCA]
xref: DOID:4916 {source="MONDO:equivalentTo"}
xref: HP:0011763 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C75.1 {source="ORDO:300385/ntbt", source="Orphanet:300385"}
xref: ICDO:8272/3 {source="NCIT:C4536"}
xref: NCIT:C4536 {source="MONDO:equivalentTo", source="DOID:4916"}
xref: ONCOTREE:PTCA {source="MONDO:equivalentTo"}
xref: Orphanet:300385 {source="MONDO:equivalentTo"}
xref: SCTID:254955001 {source="MONDO:kboom-pr-0.96/0.92/0.20", source="MONDO:equivalentTo", source="DOID:4916"}
xref: UMLS:C0346300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:4916", source="NCIT:C4536", source="Orphanet:300385", source="ORDO:300385/e"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0002109 {source="DOID:4916", source="MONDO:Redundant", source="MONDOLEX:0017582", source="NCIT:C4536", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary cancer
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0004970 {source="MONDO:Redundant", source="MONDOLEX:0017582", source="NCIT:C4536"} ! adenocarcinoma
property_value: closeMatch http://identifiers.org/mesh/D010911
property_value: closeMatch http://identifiers.org/snomedct/128665000
property_value: exactMatch DOID:4916
property_value: exactMatch http://identifiers.org/snomedct/254955001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346300
property_value: exactMatch NCIT:C4536
property_value: exactMatch Orphanet:300385

[Term]
id: MONDO:0017583
name: mirror polydactyly-vertebral segmentation-limbs defects syndrome
def: "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." [Orphanet:3004]
subset: ordo_malformation_syndrome {source="Orphanet:3004"}
xref: ICD10:Q87.2 {source="Orphanet:3004", source="ORDO:3004/attributed", source="ORDO:3004/ntbt"}
xref: Orphanet:3004 {source="MONDO:equivalentTo"}
xref: UMLS:CN203387 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:3004"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203387
property_value: exactMatch Orphanet:3004

[Term]
id: MONDO:0017584
name: Sagliker syndrome
def: "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" [PMID:15490409, PMID:27545627]
subset: ordo_clinical_situation {source="Orphanet:300493"}
xref: Orphanet:300493 {source="MONDO:equivalentTo"}
xref: UMLS:CN203388 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="Orphanet:300493"} ! bone disease
relationship: disease_arises_from_feature MONDO:0006964 {source="PMID:15490409"} ! secondary hyperparathyroidism (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019684"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203388
property_value: exactMatch Orphanet:300493

[Term]
id: MONDO:0017585
name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome
subset: gard_rare {source="GARD:0011006"}
subset: ordo_disease {source="Orphanet:300501"}
synonym: "multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus" RELATED [GARD:0011006]
xref: GARD:0011006 {source="MONDO:equivalentTo"}
xref: Orphanet:300501 {source="MONDO:equivalentTo"}
xref: UMLS:CN203391 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016752 {source="Orphanet:300501"} ! benign peripheral nerve sheath tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203391
property_value: exactMatch Orphanet:300501
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome xsd:anyURI {source="GARD:0011006"}

[Term]
id: MONDO:0017586
name: onychocytic matricoma
def: "Onychocytic matricoma is a rare tumor of the nail that is generally benign . Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision ." [https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma]
subset: gard_rare {source="GARD:0011007"}
subset: ordo_disease {source="Orphanet:300504"}
synonym: "acanthoma of the nail matrix" EXACT [Orphanet:300504]
xref: GARD:0011007 {source="MONDO:equivalentTo"}
xref: Orphanet:300504 {source="MONDO:equivalentTo"}
xref: UMLS:CN203392 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017588 {source="Orphanet:300504"} ! nail tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203392
property_value: exactMatch Orphanet:300504
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma xsd:anyURI {source="GARD:0011007"}

[Term]
id: MONDO:0017587
name: onychomatricoma
def: "A neoplasm involving a UBERON:0002283." [MONDO:patterns/neoplasm]
subset: ordo_disease {source="Orphanet:300512"}
synonym: "nail matrix neoplasm" EXACT []
synonym: "nail matrix tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of nail matrix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of nail matrix" EXACT [MONDO:patterns/neoplasm]
xref: Orphanet:300512 {source="MONDO:equivalentTo"}
xref: UMLS:CN203393 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017588 {source="MONDO:Redundant", source="Orphanet:300512"} ! nail tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203393
property_value: exactMatch Orphanet:300512

[Term]
id: MONDO:0017588
name: nail tumor
def: "A neoplasm involving a nail." [MONDO:patterns/neoplasm]
subset: ordo_group_of_disorders {source="Orphanet:300515"}
synonym: "nail neoplasm" EXACT []
synonym: "nail neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nail tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of nail" EXACT [MONDO:patterns/neoplasm]
synonym: "rare nail tumor" RELATED [Orphanet:300515]
synonym: "tumor of nail" EXACT [MONDO:patterns/neoplasm]
xref: Orphanet:300515 {source="MONDO:equivalentTo"}
is_a: MONDO:0002884 ! nail disease
is_a: MONDO:0005070 ! neoplasm (disease)
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:300515"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch Orphanet:300515

[Term]
id: MONDO:0017589
name: follicular cholangitis and pancreatitis
def: "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." [Orphanet:300552]
subset: ordo_disease {source="Orphanet:300552"}
synonym: "follicular pancreatocholangitis" EXACT [Orphanet:300552]
xref: Orphanet:300552 {source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="Orphanet:300552"} ! pancreas disease
is_a: MONDO:0004868 {source="Orphanet:300552"} ! biliary tract disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015116"} ! rare
property_value: exactMatch Orphanet:300552

[Term]
id: MONDO:0017590
name: carcinoma of the ampulla of vater
def: "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C3908]
subset: ordo_disease {source="Orphanet:300557"}
synonym: "AMPCA" RELATED [ONCOTREE:AMPCA]
synonym: "ampulla of Vater cancer" EXACT [NCIT:C3908]
synonym: "ampulla of Vater carcinoma" EXACT [MONDO:0006080, NCIT:C3908]
synonym: "ampullary cancer" EXACT [NCIT:C3908]
synonym: "ampullary carcinoma" EXACT [NCIT:C3908, Orphanet:300557]
synonym: "Ampulloma" EXACT [Orphanet:300557]
synonym: "carcinoma of ampulla of vater" EXACT [DOID:4932]
synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma]
synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4932 {source="MONDO:equivalentTo"}
xref: EFO:1000079 {source="MONDO:equivalentTo"}
xref: ICD10:C24.1 {source="ORDO:300557/ntbt", source="Orphanet:300557"}
xref: MedDRA:10048853 {source="ORDO:300557/e", source="Orphanet:300557"}
xref: NCIT:C3908 {source="DOID:4932", source="MONDO:equivalentTo", source="EFO:1000079"}
xref: ONCOTREE:AMPCA {source="MONDO:equivalentTo"}
xref: Orphanet:300557 {source="MONDO:equivalentTo"}
xref: SCTID:254609000 {source="MONDO:kboom-pr-0.90/0.74/0.72", source="DOID:4932", source="MONDO:equivalentTo"}
xref: UMLS:C0262401 {source="MEDGEN:kboom-pr98-c99", source="ORDO:300557/e", source="DOID:4932", source="MONDO:equivalentTo", source="NCIT:C3908", source="Orphanet:300557"}
is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Redundant", source="MONDOLEX:0017590", source="NCIT:C3908", source="linkedlifedata/inferred"} ! ampulla of vater cancer
is_a: MONDO:0003090 ! extrahepatic bile duct carcinoma
is_a: MONDO:0021335 {source="MONDO:Redundant", source="linkedlifedata"} ! carcinoma of duodenum
property_value: exactMatch DOID:4932
property_value: exactMatch http://identifiers.org/meddra/10048853
property_value: exactMatch http://identifiers.org/snomedct/254609000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262401
property_value: exactMatch NCIT:C3908
property_value: exactMatch Orphanet:300557

[Term]
id: MONDO:0017591
name: combined pulmonary fibrosis-emphysema syndrome
subset: ordo_disease {source="Orphanet:300564"}
synonym: "CPFE" EXACT [Orphanet:300564]
xref: ICD10:J84.1 {source="Orphanet:300564", source="ORDO:300564/ntbt"}
xref: Orphanet:300564 {source="MONDO:equivalentTo"}
xref: UMLS:CN203401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002429 {source="Orphanet:300564"} ! idiopathic interstitial pneumonia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203401
property_value: exactMatch Orphanet:300564

[Term]
id: MONDO:0017592
name: staphylococcal toxemia
subset: ordo_group_of_disorders {source="Orphanet:300579"}
xref: MedDRA:10041932 {source="ORDO:300579/e", source="Orphanet:300579"}
xref: Orphanet:300579 {source="MONDO:equivalentTo"}
xref: UMLS:C0854511 {source="ORDO:300579/e", source="MONDO:equivalentTo", source="Orphanet:300579"}
is_a: MONDO:0024313 ! staphylococcal infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10041932
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854511
property_value: exactMatch Orphanet:300579

[Term]
id: MONDO:0017593
name: juvenile amyotrophic lateral sclerosis
def: "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." [Orphanet:300605]
subset: gard_rare {source="GARD:0011901"}
subset: ordo_disease {source="Orphanet:300605"}
synonym: "amyotrophic lateral sclerosis, juvenile" RELATED [GARD:0011901]
synonym: "JALS" EXACT [Orphanet:300605]
synonym: "juvenile Charcot disease" EXACT [Orphanet:300605]
synonym: "juvenile Lou Gehrig disease" EXACT [Orphanet:300605]
xref: GARD:0011901 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:300605/attributed", source="ORDO:300605/ntbt", source="Orphanet:300605"}
xref: Orphanet:300605 {source="MONDO:equivalentTo"}
xref: SCTID:718555006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3468114 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN239582 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005144 {source="MONDO:cjm"} ! familial amyotrophic lateral sclerosis
property_value: exactMatch http://identifiers.org/snomedct/718555006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3468114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239582
property_value: exactMatch Orphanet:300605
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis xsd:anyURI {source="GARD:0011901"}

[Term]
id: MONDO:0017594
name: indolent B-cell non-Hodgkin lymphoma
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:300842"}
synonym: "B cell lymphoma, indolent" RELATED [GARD:0010482]
synonym: "indolent B cell lymphoma" RELATED [GARD:0010482]
synonym: "indolent B-cell NHL" EXACT [Orphanet:300842]
xref: GARD:0010482 {source="MONDO:equivalentTo"}
xref: Orphanet:300842 {source="MONDO:equivalentTo"}
is_a: MONDO:0015759 {source="MONDOLEX:0017594", source="Orphanet:300842"} ! B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:300842
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma xsd:anyURI {source="GARD:0010482"}

[Term]
id: MONDO:0017595
name: aggressive B-cell non-Hodgkin lymphoma
subset: ordo_group_of_disorders {source="Orphanet:300846"}
synonym: "aggressive B-cell NHL" EXACT [Orphanet:300846]
xref: Orphanet:300846 {source="MONDO:equivalentTo"}
is_a: MONDO:0015759 {source="MONDOLEX:0017595", source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:300846

[Term]
id: MONDO:0017596
name: diffuse large B-cell lymphoma of the central nervous system
def: "A diffuse large B-cell lymphoma arising from the central nervous system." [NCIT:P378]
subset: ordo_disease {source="Orphanet:300849"}
synonym: "central nervous system diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C71720]
synonym: "CNS DLBCL" EXACT [NCIT:C71720]
synonym: "diffuse large B-cell lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "DLBCL of the CNS" EXACT [Orphanet:300849]
synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720]
synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720]
xref: ICD10:C83.3 {source="ORDO:300849/ntbt", source="Orphanet:300849"}
xref: ICDO:9680/3 {source="NCIT:C71720"}
xref: NCIT:C71720 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: Orphanet:300849 {source="MONDO:equivalentTo"}
xref: SCTID:734066005 {source="MONDO:equivalentTo"}
xref: UMLS:C2026186 {source="NCIT:C71720", source="MONDO:equivalentTo"}
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C71720", source="Orphanet:300849"} ! diffuse large B-cell lymphoma
is_a: MONDO:0044887 ! central nervous system non-hodgkin lymphoma
property_value: exactMatch http://identifiers.org/snomedct/734066005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2026186
property_value: exactMatch NCIT:C71720
property_value: exactMatch Orphanet:300849

[Term]
id: MONDO:0017597
name: T-cell/histiocyte rich large B cell lymphoma
def: "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course." [Orphanet:300857]
subset: gard_rare {source="GARD:0012257"}
subset: ordo_disease {source="Orphanet:300857"}
synonym: "T-cell rich/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496]
synonym: "T-cell/histiocyte rich lymphoma" EXACT [NCIT:C9496]
synonym: "T-cell/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496]
synonym: "THRLBCL" EXACT [ONCOTREE:THRLBCL, Orphanet:300857]
xref: GARD:0012257 {source="MONDO:equivalentTo"}
xref: ICD10:C83.3 {source="ORDO:300857/ntbt", source="Orphanet:300857"}
xref: ICDO:9680/3 {source="NCIT:C9496"}
xref: ICDO:9688/3 {source="NCIT:C9496"}
xref: NCIT:C9496 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:THRLBCL {source="MONDO:equivalentTo"}
xref: Orphanet:300857 {source="MONDO:equivalentTo"}
xref: UMLS:C1321547 {source="NCIT:C9496", source="MONDO:equivalentTo", source="Orphanet:300857", source="ORDO:300857/e"}
is_a: MONDO:0018905 {source="NCIT:C9496", source="Orphanet:300857"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321547
property_value: exactMatch NCIT:C9496
property_value: exactMatch Orphanet:300857
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma xsd:anyURI {source="GARD:0012257"}

[Term]
id: MONDO:0017598
name: primary cutaneous anaplastic large cell lymphoma
def: "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features." [Orphanet:300865]
subset: ordo_disease {source="Orphanet:300865"}
synonym: "ALCL, cutaneous" EXACT [NCIT:C6860]
synonym: "anaplastic large-cell lymphoma, primary cutaneous type" EXACT [NCIT:C6860]
synonym: "C-ALCL" EXACT [NCIT:C6860]
synonym: "primary anaplastic large cell lymphoma of skin" EXACT [NCIT:C6860]
synonym: "primary anaplastic large cell lymphoma of the skin" EXACT [NCIT:C6860]
synonym: "primary C-ALCL" EXACT [Orphanet:300865]
synonym: "primary cutaneous CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C6860]
synonym: "primary cutaneous CD30+ ALCL" EXACT [NCIT:C6860]
synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [NCIT:C6860]
synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865]
xref: ICD10:C86.6 {source="ORDO:300865/ntbt", source="Orphanet:300865"}
xref: MedDRA:10065863 {source="ORDO:300865/e", source="Orphanet:300865"}
xref: MESH:D054446 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6860 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PCALCL {source="MONDO:equivalentTo"}
xref: Orphanet:300865 {source="MONDO:equivalentTo"}
xref: UMLS:C1301362 {source="ORDO:300865/e", source="NCIT:C6860", source="MONDO:equivalentTo", source="Orphanet:300865"}
is_a: MONDO:0000607 {source="MESH:D054446", source="NCIT:C6860"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0018897 {source="Orphanet:300865"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease
is_a: MONDO:0020325 {source="NCIT:C6860"} ! anaplastic large cell lymphoma
is_a: MONDO:0020633 ! anaplastic cancer
property_value: exactMatch http://identifiers.org/meddra/10065863
property_value: exactMatch http://identifiers.org/mesh/D054446
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1698767
property_value: exactMatch NCIT:C6860
property_value: exactMatch Orphanet:300865

[Term]
id: MONDO:0017599
name: splenic diffuse red pulp small B-cell lymphoma
def: "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." [Orphanet:300869]
subset: ordo_disease {source="Orphanet:300869"}
synonym: "SDRPL" EXACT [ONCOTREE:SDRPL, Orphanet:300869]
synonym: "splenic diffuse red pulp lymphoma" EXACT [Orphanet:300869]
xref: ICD10:C83.0 {source="ORDO:300869/ntbt", source="Orphanet:300869"}
xref: ICDO:9591/3 {source="NCIT:C80309"}
xref: NCIT:C80309 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SDRPL {source="MONDO:equivalentTo"}
xref: Orphanet:300869 {source="MONDO:equivalentTo"}
xref: SCTID:763884007 {source="MONDO:equivalentTo"}
xref: UMLS:C2699508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C80309"}
is_a: MONDO:0017604 {source="Orphanet:300869"} ! marginal zone lymphoma
property_value: exactMatch http://identifiers.org/snomedct/763884007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699508
property_value: exactMatch NCIT:C80309
property_value: exactMatch Orphanet:300869

[Term]
id: MONDO:0017600
name: hairy cell leukemia variant
def: "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C) (see this term)." [Orphanet:300878]
subset: ordo_disease {source="Orphanet:300878"}
synonym: "hairy cell leukaemia variant" EXACT [DOID:713]
synonym: "hairy cell leukemia variant" EXACT [NCIT:C7401]
synonym: "HCL-V" EXACT [NCIT:C7401]
synonym: "HCL-v" EXACT [MONDO:0004113, Orphanet:300878]
synonym: "leukemic reticuloendotheliosis variant" EXACT [Orphanet:300878]
synonym: "prolymphocytic variant of hairy cell leukemia" EXACT [NCIT:C7401, Orphanet:300878]
synonym: "prolymphocytic variant of HCL" EXACT [Orphanet:300878]
xref: DOID:713 {source="MONDO:equivalentTo"}
xref: ICD10:C91.4 {source="ORDO:300878/ntbt", source="Orphanet:300878"}
xref: ICDO:9591/3 {source="NCIT:C7401"}
xref: MedDRA:10019054 {source="ORDO:300878/e", source="Orphanet:300878"}
xref: NCIT:C7401 {source="DOID:713", source="MONDO:equivalentTo", source="kboom:pr0.85-conf12.42"}
xref: Orphanet:300878 {source="MONDO:equivalentTo"}
xref: SCTID:277568007 {source="DOID:713", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0349633 {source="DOID:713", source="MONDO:equivalentTo", source="ORDO:300878/e", source="NCIT:C7401", source="Orphanet:300878"}
is_a: MONDO:0018935 {source="DOID:713", source="linkedlifedata"} ! hairy cell leukemia
property_value: closeMatch http://identifiers.org/snomedct/54087003
property_value: exactMatch DOID:713
property_value: exactMatch http://identifiers.org/meddra/10019054
property_value: exactMatch http://identifiers.org/snomedct/277568007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349633
property_value: exactMatch NCIT:C7401
property_value: exactMatch Orphanet:300878

[Term]
id: MONDO:0017601
name: diffuse large B-cell lymphoma with chronic inflammation
def: "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." [Orphanet:300888]
subset: ordo_disease {source="Orphanet:300888"}
synonym: "DLBCL with chronic inflammation" EXACT [Orphanet:300888]
xref: ICD10:C83.3 {source="ORDO:300888/ntbt", source="Orphanet:300888"}
xref: Orphanet:300888 {source="MONDO:equivalentTo"}
is_a: MONDO:0017343 {source="Orphanet:300888"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="Orphanet:300888"} ! diffuse large B-cell lymphoma
property_value: exactMatch Orphanet:300888

[Term]
id: MONDO:0017602
name: ALK-positive anaplastic large cell lymphoma
def: "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL (see this term), a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300895]
subset: ordo_histopathological_subtype {source="Orphanet:300895"}
synonym: "ALCL, ALK+" EXACT [NCIT:C37193]
synonym: "ALK+ ALCL" EXACT [Orphanet:300895]
synonym: "ALK+ anaplastic large cell lymphoma" EXACT [Orphanet:300895]
synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193]
synonym: "ALKoma" EXACT [NCIT:C37193]
synonym: "anaplastic large cell lymphoma, ALK-positive" EXACT [NCIT:C37193]
xref: ICD10:C84.6 {source="Orphanet:300895", source="ORDO:300895/e"}
xref: ICDO:9714/3 {source="NCIT:C37193"}
xref: NCIT:C37193 {source="MONDO:equivalentTo"}
xref: Orphanet:300895 {source="MONDO:equivalentTo"}
xref: UMLS:C1332079 {source="MONDO:equivalentTo", source="NCIT:C37193", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0020325 {source="NCIT:C37193", source="Orphanet:300895"} ! anaplastic large cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332079
property_value: exactMatch NCIT:C37193
property_value: exactMatch Orphanet:300895

[Term]
id: MONDO:0017603
name: ALK-negative anaplastic large cell lymphoma
def: "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL (see this term), a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300903]
subset: ordo_histopathological_subtype {source="Orphanet:300903"}
synonym: "ALCL, ALK-" EXACT [NCIT:C37194]
synonym: "ALK- ALCL" EXACT [Orphanet:300903]
synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903]
synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194]
synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194]
xref: EFO:1000083 {source="MONDO:equivalentTo"}
xref: ICD10:C84.7 {source="Orphanet:300903", source="ORDO:300903/e"}
xref: ICDO:9702/3 {source="NCIT:C37194"}
xref: NCIT:C37194 {source="MONDO:equivalentTo", source="EFO:1000083"}
xref: Orphanet:300903 {source="MONDO:equivalentTo"}
xref: UMLS:C1332078 {source="MONDO:equivalentTo", source="Orphanet:300903", source="ORDO:300903/e", source="NCIT:C37194"}
is_a: MONDO:0020325 {source="EFO:1000083", source="NCIT:C37194", source="Orphanet:300903"} ! anaplastic large cell lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332078
property_value: exactMatch NCIT:C37194
property_value: exactMatch Orphanet:300903

[Term]
id: MONDO:0017604
name: marginal zone lymphoma
def: "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." [NCIT:C4341]
subset: ordo_group_of_disorders {source="Orphanet:300912"}
synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern]
synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "marginal zone B-cell lymphoma" EXACT [MONDO:0006495, NCIT:C4341]
synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341]
synonym: "MZBCL" EXACT [NCIT:C4341]
synonym: "MZL" EXACT [NCIT:C4341]
xref: DOID:0050748 {source="MONDO:equivalentTo"}
xref: EFO:1000630 {source="MONDO:equivalentTo"}
xref: GARD:0013237 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICDO:9699/3 {source="NCIT:C4341"}
xref: NCIT:C4341 {source="EFO:1000630", source="MONDO:equivalentTo", source="kboom:pr0.86-conf12.42"}
xref: ONCOTREE:MZL {source="MONDO:equivalentTo"}
xref: Orphanet:300912 {source="MONDO:equivalentTo"}
xref: SCTID:447100004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C1367654 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4341", source="MONDO:equivalentTo"}
is_a: MONDO:0004699 ! gastrointestinal lymphoma
is_a: MONDO:0005966 ! spleen cancer
is_a: MONDO:0017594 {source="Orphanet:300912"} ! indolent B-cell non-Hodgkin lymphoma
property_value: exactMatch DOID:0050748
property_value: exactMatch http://identifiers.org/snomedct/447100004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1367654
property_value: exactMatch NCIT:C4341
property_value: exactMatch Orphanet:300912

[Term]
id: MONDO:0017605
name: obsolete ependymal tumor
is_obsolete: true
replaced_by: MONDO:0003266

[Term]
id: MONDO:0017606
name: facial nerve palsy due to herpes zoster infection
subset: ordo_disease {source="Orphanet:3020"}
synonym: "facial nerve palsy due to VZV" EXACT [Orphanet:3020]
synonym: "facial nerve paralysis due to VZV" EXACT [Orphanet:3020]
synonym: "Hunt syndrome (formerly)" RELATED [GARD:0007525]
synonym: "Hunt's syndrome (formerly)" RELATED [GARD:0007525]
synonym: "Ramsay Hunt syndrome" EXACT [Orphanet:3020]
synonym: "Ramsay Hunt syndrome type 2 (formerly)" RELATED [GARD:0007525]
xref: GARD:0007525 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B02.2+ {source="Orphanet:3020", source="ORDO:3020/ntbt"}
xref: ICD10:G53.0* {source="Orphanet:3020", source="ORDO:3020/ntbt"}
xref: Orphanet:3020 {source="MONDO:equivalentTo"}
is_a: MONDO:0005608 ! varicella zoster infection
is_a: MONDO:0005665 ! Bell's palsy
is_a: MONDO:0016104 {source="Orphanet:3020"} ! infectious disease with peripheral neuropathy
is_a: MONDO:0024318 ! viral infection of central nervous system
property_value: exactMatch Orphanet:3020

[Term]
id: MONDO:0017607
name: caudal regression sequence
def: "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." [Orphanet:3027]
subset: ordo_malformation_syndrome {source="Orphanet:3027"}
synonym: "caudal dysplasia" EXACT [Orphanet:3027]
synonym: "sacral agenesis syndrome" EXACT [Orphanet:3027]
synonym: "sacral regression syndrome" EXACT [Orphanet:3027]
xref: GARD:0006007 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q76.0 {source="Orphanet:3027", source="ORDO:3027/attributed", source="ORDO:3027/ntbt"}
xref: MedDRA:10054842 {source="ORDO:3027/e", source="Orphanet:3027"}
xref: MedDRA:10059387 {source="ORDO:3027/e", source="Orphanet:3027"}
xref: MedDRA:10068896 {source="ORDO:3027/e", source="Orphanet:3027"}
xref: NCIT:C124505 {source="MONDO:equivalentTo"}
xref: Orphanet:3027 {source="MONDO:equivalentTo"}
xref: UMLS:C1838568 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1867774 {source="Orphanet:3027", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017085 {source="Orphanet:3027"} ! malformation of the neurenteric canal, spinal cord and column
is_a: MONDO:0019721 {source="Orphanet:3027"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2609260
property_value: exactMatch http://identifiers.org/meddra/10054842
property_value: exactMatch http://identifiers.org/meddra/10059387
property_value: exactMatch http://identifiers.org/meddra/10068896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0300948
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838568
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867774
property_value: exactMatch NCIT:C124505
property_value: exactMatch Orphanet:3027

[Term]
id: MONDO:0017608
name: dystrophic epidermolysis bullosa
def: "Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." [Orphanet:303]
subset: ordo_group_of_disorders {source="Orphanet:303"}
synonym: "DEB" EXACT [Orphanet:303]
synonym: "Dermolytic epidermolysis bullosa" EXACT [Orphanet:303]
synonym: "epidermolysis bullosa dystrophica" EXACT [Orphanet:303]
synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150]
xref: GARD:0002150 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q81.2 {source="Orphanet:303", source="ORDO:303/specific", source="ORDO:303/e"}
xref: Orphanet:303 {source="MONDO:equivalentTo"}
is_a: MONDO:0015331 {source="Orphanet:303"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019276 {source="Orphanet:303"} ! inherited epidermolysis bullosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079294
property_value: exactMatch Orphanet:303

[Term]
id: MONDO:0017609
name: renal tubular dysgenesis
def: "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner." [Orphanet:3033]
subset: ordo_malformation_syndrome {source="Orphanet:3033"}
synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033]
synonym: "renotubular dysgenesis" EXACT [Orphanet:3033]
xref: GARD:0000379 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q63.8 {source="ORDO:3033/ntbt", source="Orphanet:3033"}
xref: Orphanet:3033 {source="MONDO:equivalentTo"}
xref: SCTID:702397002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019720 {source="Orphanet:3033"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/702397002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266313
property_value: exactMatch Orphanet:3033

[Term]
id: MONDO:0017610
name: epidermolysis bullosa simplex
def: "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." [Orphanet:304]
subset: gard_rare {source="GARD:0010752"}
subset: ordo_group_of_disorders {source="Orphanet:304"}
synonym: "EBS" EXACT [Orphanet:304]
synonym: "EEB" EXACT [Orphanet:304]
synonym: "epidermolysis bullosa intraepidermic" RELATED [GARD:0010752]
synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644]
xref: DOID:4644 {source="MONDO:equivalentTo"}
xref: GARD:0010752 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.0 {source="ORDO:304/e", source="Orphanet:304", source="DOID:4644", source="ORDO:304/specific", source="MONDO:equivalentTo"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016110 {source="DOID:4644", source="MONDO:equivalentTo"}
xref: NCIT:C84692 {source="DOID:4644", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:304 {source="MONDO:equivalentTo"}
xref: SCTID:67144006 {source="DOID:4644", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0079298 {source="ORDO:304/e", source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="NCIT:C84692"}
is_a: MONDO:0019276 {source="Orphanet:304"} ! inherited epidermolysis bullosa
property_value: closeMatch http://identifiers.org/snomedct/205585003
property_value: exactMatch DOID:4644
property_value: exactMatch http://identifiers.org/mesh/D016110
property_value: exactMatch http://identifiers.org/snomedct/67144006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079298
property_value: exactMatch NCIT:C84692
property_value: exactMatch Orphanet:304
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex xsd:anyURI {source="GARD:0010752"}

[Term]
id: MONDO:0017611
name: pituitary tumor
def: "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." [NCIT:C3330]
subset: ordo_group_of_disorders {source="Orphanet:304055"}
synonym: "neoplasm of pituitary" EXACT [NCIT:C3330]
synonym: "neoplasm of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "neoplasm of the pituitary" EXACT [NCIT:C3330]
synonym: "neoplasm of the pituitary gland" EXACT [NCIT:C3330]
synonym: "pituitary gland neoplasm" EXACT [NCIT:C3330]
synonym: "pituitary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "pituitary neoplasm" EXACT [NCIT:C3330]
synonym: "pituitary tumor" EXACT [NCIT:C3330]
synonym: "tumor of pituitary" EXACT [NCIT:C3330]
synonym: "tumor of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "tumor of the pituitary" EXACT [NCIT:C3330]
synonym: "tumor of the pituitary gland" EXACT [NCIT:C3330]
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3330 {source="MONDO:equivalentTo"}
xref: Orphanet:304055 {source="MONDO:equivalentTo"}
xref: SCTID:127024001 {source="MONDO:equivalentTo"}
xref: UMLS:C0032019 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3330", source="MONDO:equivalentTo", source="Orphanet:304055"}
is_a: MONDO:0002082 {source="MONDO:Entailed", source="Orphanet:304055"} ! endocrine gland neoplasm
is_a: MONDO:0002720 {source="MONDO:Entailed", source="NCIT:C3330"} ! sella turcica neoplasm
is_a: MONDO:0003381 {source="MONDO:Redundant", source="NCIT:C3330", source="linkedlifedata"} ! pituitary gland disease
is_a: MONDO:0006799 {source="linkedlifedata"} ! hypothalamic neoplasm
property_value: exactMatch http://identifiers.org/snomedct/127024001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032019
property_value: exactMatch NCIT:C3330
property_value: exactMatch Orphanet:304055

[Term]
id: MONDO:0017612
name: junctional epidermolysis bullosa
def: "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." [Orphanet:305]
subset: gard_rare {source="GARD:0002152"}
subset: ordo_group_of_disorders {source="Orphanet:305"}
synonym: "congenital junctional epidermolysis bullosa" EXACT []
synonym: "EBJ" EXACT [Orphanet:305]
synonym: "epidermolysis bullosa atrophicans" EXACT [Orphanet:305]
synonym: "epidermolysis bullosa hereditaria letalis" RELATED []
synonym: "epidermolysis bullosa, junctional" RELATED [GARD:0002152]
synonym: "JEB" EXACT [Orphanet:305]
xref: DOID:3209 {source="MONDO:equivalentTo"}
xref: GARD:0002152 {source="MONDO:equivalentTo"}
xref: MESH:D016109 {source="ORDO:305/e", source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209"}
xref: NCIT:C90598 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:3209"}
xref: Orphanet:305 {source="MONDO:equivalentTo"}
xref: SCTID:79855003 {source="MONDO:equivalentTo", source="DOID:3209"}
xref: UMLS:C0079301 {source="ORDO:305/e", source="NCIT:C90598", source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209"}
is_a: MONDO:0015331 {source="Orphanet:305"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019276 {source="MONDO:Redundant", source="MONDOLEX:0017612", source="Orphanet:305"} ! inherited epidermolysis bullosa
is_a: MONDO:0020014 {source="Orphanet:305"} ! rare disease with odontological manifestation
property_value: closeMatch http://identifiers.org/snomedct/399971009
property_value: closeMatch http://identifiers.org/snomedct/76905008
property_value: exactMatch DOID:3209
property_value: exactMatch http://identifiers.org/mesh/D016109
property_value: exactMatch http://identifiers.org/snomedct/79855003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079301
property_value: exactMatch NCIT:C90598
property_value: exactMatch Orphanet:305
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa xsd:anyURI {source="GARD:0002152"}

[Term]
id: MONDO:0017613
name: intellectual disability-hypotonia-skin hyperpigmentation syndrome
subset: gard_rare
subset: ordo_disease {source="Orphanet:3050"}
synonym: "Medrano Roldan syndrome" RELATED [GARD:0003441]
synonym: "Medrano-Roldan syndrome" EXACT [Orphanet:3050]
xref: GARD:0003441 {source="MONDO:equivalentTo"}
xref: Orphanet:3050 {source="MONDO:equivalentTo", source="GARD:0003441"}
is_a: MONDO:0000508 {source="Orphanet:3050"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch Orphanet:3050
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome xsd:anyURI {source="GARD:0003441"}

[Term]
id: MONDO:0017614
name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
def: "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." [Orphanet:3055]
subset: ordo_malformation_syndrome {source="Orphanet:3055"}
synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism" RELATED [GARD:0000345]
synonym: "X-linked intellectual disability - short stature – obesity" RELATED [GARD:0000345]
synonym: "Young-Hughes syndrome" EXACT [Orphanet:3055]
xref: GARD:0000345 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:3055/attributed", source="ORDO:3055/ntbt", source="Orphanet:3055"}
xref: MESH:C536715 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3055 {source="MONDO:equivalentTo"}
xref: UMLS:C0796264 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3055"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3055"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017269 ! X-linked ichthyosis syndrome
is_a: MONDO:0017274 {source="Orphanet:3055"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0020119 {source="Orphanet:3055"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796264
property_value: exactMatch Orphanet:3055

[Term]
id: MONDO:0017615
name: benign familial infantile epilepsy
def: "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." [Orphanet:306]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:306"}
synonym: "benign familial infantile convulsion" EXACT [DOID:0060169]
synonym: "benign familial infantile convulsions" EXACT [Orphanet:306]
synonym: "benign familial infantile seizures" EXACT [DOID:0060169, Orphanet:306]
synonym: "BFIC" EXACT [DOID:0060169]
synonym: "BFIE" EXACT [DOID:0060169, Orphanet:306]
synonym: "BFIS" EXACT [Orphanet:306]
synonym: "seizures, benign familial infantile" EXACT [OMIMPS:601764]
xref: DOID:0060169 {source="MONDO:equivalentTo"}
xref: GARD:0000857 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="Orphanet:306", source="ORDO:306/attributed", source="ORDO:306/ntbt"}
xref: ICD9:V17.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:601764 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:306 {source="DOID:0060169", source="MONDO:equivalentTo"}
xref: SCTID:230410004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20"}
xref: UMLS:CN203492 {source="MONDO:equivalentTo"}
is_a: MONDO:0000413 {source="DOID:0060169"} ! infancy electroclinical syndrome
is_a: MONDO:0015642 {source="Orphanet:306"} ! benign partial infantile seizures
is_a: MONDO:0015654 {source="Orphanet:306"} ! idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
property_value: exactMatch DOID:0060169
property_value: exactMatch http://identifiers.org/snomedct/230410004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203492
property_value: exactMatch Orphanet:306

[Term]
id: MONDO:0017616
name: X-linked intellectual disability, Schutz type
subset: ordo_disease {source="Orphanet:3062"}
xref: ICD10:Q87.8 {source="ORDO:3062/attributed", source="ORDO:3062/ntbt", source="Orphanet:3062"}
xref: Orphanet:3062 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:3062"} ! X-linked syndromic intellectual disability
property_value: exactMatch Orphanet:3062

[Term]
id: MONDO:0017617
name: acquired adult-onset immunodeficiency
def: "A acquired immunodeficiency that occurs in an adult." [MONDO:patterns/adult]
subset: ordo_disease {source="Orphanet:306431"}
synonym: "acquired immunodeficiency of adults" EXACT [MONDO:patterns/adult]
synonym: "adult acquired immunodeficiency" EXACT []
synonym: "adult onset immunodeficiency syndrome" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency due to anti-interferon-gamma autoantibody" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" EXACT [Orphanet:306431]
synonym: "anti-IFN-gamma autoantibody syndrome" RELATED [GARD:0011992]
xref: GARD:0011992 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D84.8 {source="ORDO:306431/ntbt", source="Orphanet:306431"}
xref: Orphanet:306431 {source="MONDO:equivalentTo"}
is_a: MONDO:0017769 {source="Orphanet:306431"} ! acquired immunodeficiency
property_value: exactMatch Orphanet:306431

[Term]
id: MONDO:0017618
name: congenital sucrase-isomaltase deficiency with starch intolerance
subset: ordo_clinical_subtype {source="Orphanet:306436"}
synonym: "congenital sucrase-isomaltose malabsorption with starch intolerance" EXACT [Orphanet:306436]
synonym: "congenital sucrose intolerance with starch intolerance" EXACT [Orphanet:306436]
synonym: "CSID with starch intolerance" EXACT [Orphanet:306436]
synonym: "disaccharide intolerance with starch intolerance" EXACT [Orphanet:306436]
xref: ICD10:E74.3 {source="Orphanet:306436", source="ORDO:306436/attributed", source="ORDO:306436/ntbt"}
xref: Orphanet:306436 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="Orphanet:306436"} ! congenital sucrase-isomaltase deficiency
property_value: exactMatch Orphanet:306436

[Term]
id: MONDO:0017619
name: congenital sucrase-isomaltase deficiency with minimal starch tolerance
subset: ordo_clinical_subtype {source="Orphanet:306446"}
synonym: "congenital sucrase-isomaltose malabsorption with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "congenital sucrose intolerance with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "CSID with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "disaccharide intolerance with minimal starch tolerance" EXACT [Orphanet:306446]
xref: ICD10:E74.3 {source="ORDO:306446/attributed", source="ORDO:306446/ntbt", source="Orphanet:306446"}
xref: Orphanet:306446 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="Orphanet:306446"} ! congenital sucrase-isomaltase deficiency
property_value: exactMatch Orphanet:306446

[Term]
id: MONDO:0017620
name: congenital sucrase-isomaltase deficiency without starch intolerance
subset: ordo_clinical_subtype {source="Orphanet:306462"}
synonym: "congenital sucrase-isomaltose malabsorption without starch intolerance" EXACT [Orphanet:306462]
synonym: "congenital sucrose intolerance without starch intolerance" EXACT [Orphanet:306462]
synonym: "CSID without starch intolerance" EXACT [Orphanet:306462]
synonym: "disaccharide intolerance without starch intolerance" EXACT [Orphanet:306462]
xref: ICD10:E74.3 {source="ORDO:306462/attributed", source="ORDO:306462/ntbt", source="Orphanet:306462"}
xref: Orphanet:306462 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="Orphanet:306462"} ! congenital sucrase-isomaltase deficiency
disjoint_from: MONDO:0017621 ! congenital sucrase-isomaltase deficiency with starch and lactose intolerance
property_value: exactMatch Orphanet:306462

[Term]
id: MONDO:0017621
name: congenital sucrase-isomaltase deficiency with starch and lactose intolerance
subset: ordo_clinical_subtype {source="Orphanet:306474"}
synonym: "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "congenital sucrose intolerance with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "CSID with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "disaccharide intolerance with starch and lactose intolerance" EXACT [Orphanet:306474]
xref: ICD10:E74.3 {source="ORDO:306474/attributed", source="ORDO:306474/ntbt", source="Orphanet:306474"}
xref: Orphanet:306474 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="Orphanet:306474"} ! congenital sucrase-isomaltase deficiency
property_value: exactMatch Orphanet:306474

[Term]
id: MONDO:0017622
name: congenital sucrase-isomaltase deficiency without sucrose intolerance
subset: ordo_clinical_subtype {source="Orphanet:306486"}
synonym: "congenital sucrose-isomaltose malabsorption without sucrose intolerance" EXACT [Orphanet:306486]
synonym: "CSID without sucrose intolerance" EXACT [Orphanet:306486]
synonym: "disaccharide intolerance without sucrose intolerance" EXACT [Orphanet:306486]
xref: ICD10:E74.3 {source="ORDO:306486/attributed", source="ORDO:306486/ntbt", source="Orphanet:306486"}
xref: Orphanet:306486 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="Orphanet:306486"} ! congenital sucrase-isomaltase deficiency
property_value: exactMatch Orphanet:306486

[Term]
id: MONDO:0017623
name: PTEN hamartoma tumor syndrome
def: "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." [Orphanet:306498]
subset: clingen
subset: gard_rare {source="GARD:0012800"}
subset: ordo_group_of_disorders {source="Orphanet:306498"}
synonym: "PHTS" EXACT [Orphanet:306498]
xref: DOID:0080191 {source="MONDO:equivalentTo"}
xref: GARD:0012800 {source="MONDO:equivalentTo"}
xref: Orphanet:306498 {source="MONDO:equivalentTo"}
xref: SCTID:722859001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1959582 {source="MONDO:equivalentTo", source="ORDO:306498/e", source="Orphanet:306498"}
is_a: MONDO:0015945 {source="Orphanet:306498"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0020063 {source="Orphanet:306498"} ! malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:306498"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch DOID:0080191
property_value: exactMatch http://identifiers.org/snomedct/722859001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1959582
property_value: exactMatch Orphanet:306498
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome xsd:anyURI {source="GARD:0012800"}

[Term]
id: MONDO:0017624
name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms)." [Orphanet:306516]
subset: gard_rare {source="GARD:0009891"}
subset: ordo_group_of_disorders {source="Orphanet:306516"}
synonym: "FHHNC" EXACT [Orphanet:306516]
synonym: "Michellis-Castrillo syndrome" EXACT [Orphanet:306516]
xref: GARD:0009891 {source="MONDO:equivalentTo"}
xref: ICD10:E83.4 {source="Orphanet:306516", source="ORDO:306516/attributed", source="ORDO:306516/ntbt"}
xref: Orphanet:306516 {source="MONDO:equivalentTo"}
xref: UMLS:CN203511 {source="MONDO:equivalentTo"}
is_a: MONDO:0018100 {source="Orphanet:306516"} ! familial primary hypomagnesemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268451
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203511
property_value: exactMatch Orphanet:306516
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis xsd:anyURI {source="GARD:0009891"}

[Term]
id: MONDO:0017625
name: familial primary hypomagnesemia with hypocalcuria
subset: ordo_group_of_disorders {source="Orphanet:306519"}
xref: Orphanet:306519 {source="MONDO:equivalentTo"}
xref: SCTID:711151004 {source="MONDO:kboom-pr-0.80/0.42/0.91", source="MONDO:equivalentTo"}
xref: UMLS:CN227163 {source="MONDO:equivalentTo"}
is_a: MONDO:0018100 {source="Orphanet:306519", source="linkedlifedata"} ! familial primary hypomagnesemia
property_value: exactMatch http://identifiers.org/snomedct/711151004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227163
property_value: exactMatch Orphanet:306519

[Term]
id: MONDO:0017626
name: familial primary hypomagnesemia with normocalcuria
def: "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." [Orphanet:306522]
subset: ordo_group_of_disorders {source="Orphanet:306522"}
xref: ICD10:E83.4 {source="ORDO:306522/attributed", source="ORDO:306522/ntbt", source="Orphanet:306522"}
xref: Orphanet:306522 {source="MONDO:equivalentTo"}
xref: UMLS:CN227164 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018100 {source="Orphanet:306522"} ! familial primary hypomagnesemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227164
property_value: exactMatch Orphanet:306522

[Term]
id: MONDO:0017627
name: congenital hereditary facial paralysis-variable hearing loss syndrome
def: "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." [Orphanet:306530]
subset: ordo_morphological_anomaly {source="Orphanet:306530"}
synonym: "congenital hereditary facial palsy with variable deafness" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial palsy with variable hearing loss" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial paralysis with variable deafness" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial paralysis-variable deafness syndrome" EXACT [Orphanet:306530]
xref: ICD10:Q87.0 {source="ORDO:306530/attributed", source="ORDO:306530/ntbt", source="Orphanet:306530"}
xref: Orphanet:306530 {source="MONDO:equivalentTo"}
xref: SCTID:722389002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.19"}
is_a: MONDO:0015499 {source="Orphanet:306530"} ! paralytic facial malformation
is_a: MONDO:0020132 {source="Orphanet:306530"} ! cranial nerve and nuclear aplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/722389002
property_value: exactMatch Orphanet:306530

[Term]
id: MONDO:0017628
name: myospherulosis
subset: ordo_disease {source="Orphanet:306553"}
synonym: "spherulocytosis" EXACT [Orphanet:306553]
synonym: "subcutaneous spherulocystic disease" EXACT [Orphanet:306553]
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:306553 {source="MONDO:equivalentTo"}
xref: SCTID:81139004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0027123 {source="MONDO:equivalentTo", source="ORDO:306553/e", source="Orphanet:306553"}
is_a: MONDO:0019038 {source="Orphanet:306553"} ! rare maxillo-facial surgical disease
property_value: exactMatch http://identifiers.org/snomedct/81139004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027123
property_value: exactMatch Orphanet:306553

[Term]
id: MONDO:0017629
name: sodium channelopathy-related small fiber neuropathy
subset: ordo_disease {source="Orphanet:306577"}
xref: Orphanet:306577 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0020127 {source="Orphanet:306577"} ! genetic peripheral neuropathy
is_a: MONDO:0021016 ! channelopathy
property_value: exactMatch Orphanet:306577

[Term]
id: MONDO:0017630
name: X-linked complicated spastic paraplegia type 1
def: "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." [https://www.ncbi.nlm.nih.gov/books/NBK1484, MONDO:cjm]
subset: ordo_clinical_subtype {source="Orphanet:306617"}
synonym: "SPG1" EXACT [Orphanet:306617]
xref: GARD:0012525 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:306617 {source="MONDO:equivalentTo"}
xref: UMLS:CN203524 {source="MONDO:equivalentTo"}
is_a: MONDO:0017140 {source="Orphanet:306617", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203524
property_value: exactMatch Orphanet:306617

[Term]
id: MONDO:0017631
name: rare tumor of gallbladder and extrahepatic biliary tract
comment: Editor note: TODO
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306633"}
synonym: "rare tumor of gallbladder and EBT" EXACT [Orphanet:306633]
xref: Orphanet:306633 {source="MONDO:equivalentTo"}
xref: UMLS:C0750952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:306633"}
is_a: MONDO:0021385 {source="MONDO:cjm"} ! extrahepatic bile duct neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015117"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750952
property_value: exactMatch Orphanet:306633
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017632
name: obsolete rare tumor of liver and intrahepatic biliary tract
def: "Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306636"}
synonym: "rare liver and intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare tumor of liver and IBT" EXACT [Orphanet:306636]
xref: Orphanet:306636 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:306636
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024477
consider: UMLS:C0023903 {source="MONDO:relatedTo", source="Orphanet:306636"}

[Term]
id: MONDO:0017633
name: rare intoxication due to medical products
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306640"}
xref: Orphanet:306640 {source="MONDO:equivalentTo"}
xref: UMLS:CN227165 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDOLEX:0017633", source="Orphanet:306640"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227165
property_value: exactMatch Orphanet:306640
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017634
name: non-infectious anterior uveitis
subset: ordo_group_of_disorders {source="Orphanet:306648"}
synonym: "non-infectious iridocyclitis" EXACT [Orphanet:306648]
xref: Orphanet:306648 {source="MONDO:equivalentTo"}
xref: SCTID:267619000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339317 {source="Orphanet:306648", source="ORDO:306648/e", source="MONDO:equivalentTo"}
is_a: MONDO:0006651 {source="MONDOLEX:0017634", source="Orphanet:306648", source="linkedlifedata", source="linkedlifedata/inferred"} ! anterior uveitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/267619000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339317
property_value: exactMatch Orphanet:306648

[Term]
id: MONDO:0017635
name: parkinsonian syndrome due to neurodegenerative disease
comment: Editor note: TODO checkme
subset: ordo_group_of_disorders {source="Orphanet:306666"}
xref: Orphanet:306666 {source="MONDO:equivalentTo"}
xref: UMLS:CN203530 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021095 {source="MONDO:Redundant", source="Orphanet:306666"} ! parkinsonian disorder
intersection_of: MONDO:0021095 ! parkinsonian disorder
intersection_of: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203530
property_value: exactMatch Orphanet:306666
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017636
name: hemiparkinsonism-hemiatrophy syndrome
def: "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." [Orphanet:306669]
subset: ordo_disease {source="Orphanet:306669"}
synonym: "Hp-HA syndrome" EXACT [Orphanet:306669]
xref: ICD10:G20 {source="Orphanet:306669", source="ORDO:306669/attributed", source="ORDO:306669/ntbt"}
xref: Orphanet:306669 {source="MONDO:equivalentTo"}
xref: UMLS:CN203531 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017661 {source="Orphanet:306669"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203531
property_value: exactMatch Orphanet:306669

[Term]
id: MONDO:0017637
name: rare parkinsonian syndrome due to intoxication
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306679"}
xref: Orphanet:306679 {source="MONDO:equivalentTo"}
xref: UMLS:CN203533 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021095 {source="Orphanet:306679"} ! parkinsonian disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0019059"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203533
property_value: exactMatch Orphanet:306679
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017638
name: manganese poisoning
def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149]
subset: ordo_disease {source="Orphanet:306682"}
synonym: "manganese intoxication" EXACT [Orphanet:306682]
synonym: "Manganism" EXACT [Orphanet:306682]
xref: EFO:1001808 {source="MONDO:equivalentTo"}
xref: ICD10:T57.2 {source="Orphanet:306682", source="ORDO:306682/e"}
xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058951 {source="Orphanet:306682", source="ORDO:306682/e"}
xref: MESH:D020149 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:306682 {source="MONDO:equivalentTo"}
xref: SCTID:88687001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.72/4.42"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:306682"} ! poisoning
relationship: excluded_subClassOf MONDO:0017637 {source="Orphanet:306682"} ! rare parkinsonian syndrome due to intoxication
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10058951
property_value: exactMatch http://identifiers.org/mesh/D020149
property_value: exactMatch http://identifiers.org/snomedct/88687001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677050
property_value: exactMatch Orphanet:306682

[Term]
id: MONDO:0017639
name: carbon monoxide-induced parkinsonism
subset: ordo_disease {source="Orphanet:306686"}
synonym: "CO-induced parkinsonism" EXACT [Orphanet:306686]
xref: ICD10:G21.2 {source="Orphanet:306686", source="ORDO:306686/ntbt"}
xref: Orphanet:306686 {source="MONDO:equivalentTo"}
xref: SCTID:230293003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0393565 {source="MONDO:equivalentTo", source="Orphanet:306686", source="ORDO:306686/e"}
is_a: MONDO:0017637 {source="MONDO:Redundant", source="Orphanet:306686"} ! rare parkinsonian syndrome due to intoxication
is_a: MONDO:0029000 {source="Orphanet:306686"} ! poisoning
property_value: exactMatch http://identifiers.org/snomedct/230293003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393565
property_value: exactMatch Orphanet:306686

[Term]
id: MONDO:0017640
name: cyanide-induced parkinsonism
def: "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." [Orphanet:306692]
subset: ordo_disease {source="Orphanet:306692"}
xref: ICD10:G21.2 {source="ORDO:306692/ntbt", source="Orphanet:306692"}
xref: Orphanet:306692 {source="MONDO:equivalentTo"}
xref: SCTID:766872002 {source="MONDO:equivalentTo"}
xref: UMLS:CN203536 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017637 {source="MONDO:Redundant", source="Orphanet:306692"} ! rare parkinsonian syndrome due to intoxication
is_a: MONDO:0029000 {source="Orphanet:306692"} ! poisoning
property_value: exactMatch http://identifiers.org/snomedct/766872002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203536
property_value: exactMatch Orphanet:306692

[Term]
id: MONDO:0017641
name: miscellaneous movement disorder due to neurodegenerative disease
subset: ordo_group_of_disorders {source="Orphanet:306695"}
xref: Orphanet:306695 {source="MONDO:equivalentTo"}
xref: UMLS:CN203537 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:306695"} ! movement disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203537
property_value: exactMatch Orphanet:306695

[Term]
id: MONDO:0017642
name: intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3067"}
xref: ICD10:Q87.8 {source="Orphanet:3067", source="ORDO:3067/attributed", source="ORDO:3067/ntbt"}
xref: Orphanet:3067 {source="MONDO:equivalentTo"}
xref: UMLS:CN227166 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:3067"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227166
property_value: exactMatch Orphanet:3067

[Term]
id: MONDO:0017643
name: frontotemporal neurodegeneration with movement disorder
subset: ordo_group_of_disorders {source="Orphanet:306708"}
xref: Orphanet:306708 {source="MONDO:equivalentTo"}
xref: UMLS:CN227167 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017662 {source="Orphanet:306708"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227167
property_value: exactMatch Orphanet:306708

[Term]
id: MONDO:0017644
name: obsolete rare tremor disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306712"}
xref: Orphanet:306712 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227168 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227168
property_value: exactMatch Orphanet:306712
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0017645
name: obsolete rare choreic movement disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306715"}
xref: Orphanet:306715 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:306715
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395
consider: UMLS:C0008489 {source="Orphanet:306715"}

[Term]
id: MONDO:0017646
name: neurodegenerative disease with chorea
subset: ordo_group_of_disorders {source="Orphanet:306719"}
xref: Orphanet:306719 {source="MONDO:equivalentTo"}
xref: UMLS:CN203538 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:306719", source="Orphanet:306719/inferred"} ! movement disorder
is_a: MONDO:0005559 ! neurodegenerative disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015957", source="MONDO:0017645"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203538
property_value: exactMatch Orphanet:306719

[Term]
id: MONDO:0017647
name: postinfectious autoimmune disease with chorea
subset: ordo_group_of_disorders {source="Orphanet:306727"}
xref: Orphanet:306727 {source="MONDO:equivalentTo"}
xref: UMLS:CN203539 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002977 ! autoimmune disease of the nervous system
is_a: MONDO:0005395 {source="Orphanet:306727"} ! movement disorder
is_a: MONDO:0021669 ! post-infectious disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0017645"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203539
property_value: exactMatch Orphanet:306727

[Term]
id: MONDO:0017648
name: Sydenham chorea
subset: ordo_clinical_situation {source="Orphanet:306731"}
xref: GARD:0007716 {source="MONDO:equivalentTo"}
xref: ICD10:I02.0 {source="ORDO:306731/nd", source="Orphanet:306731"}
xref: ICD10:I02.9 {source="ORDO:306731/nd", source="Orphanet:306731"}
xref: MedDRA:10042732 {source="ORDO:306731/e", source="Orphanet:306731"}
xref: Orphanet:306731 {source="MONDO:equivalentTo"}
is_a: MONDO:0017647 {source="Orphanet:306731"} ! postinfectious autoimmune disease with chorea
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152113
property_value: exactMatch http://identifiers.org/meddra/10042732
property_value: exactMatch Orphanet:306731

[Term]
id: MONDO:0017649
name: hemidystonia-hemiatrophy syndrome
def: "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." [Orphanet:306741]
subset: ordo_disease {source="Orphanet:306741"}
synonym: "HD-HA syndrome" EXACT [Orphanet:306741]
xref: Orphanet:306741 {source="MONDO:equivalentTo"}
xref: UMLS:CN203542 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003441 {source="Orphanet:306741"} ! dystonic disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0019049"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203542
property_value: exactMatch Orphanet:306741

[Term]
id: MONDO:0017650
name: obsolete rare myoclonus
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306747"}
xref: Orphanet:306747 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227170 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227170
property_value: exactMatch Orphanet:306747
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0017651
name: primary myoclonus
subset: ordo_group_of_disorders {source="Orphanet:306750"}
xref: Orphanet:306750 {source="MONDO:equivalentTo"}
is_a: MONDO:0017663 {source="Orphanet:306750"} ! inherited tremor disorder
property_value: exactMatch Orphanet:306750

[Term]
id: MONDO:0017652
name: rare disease with myoclonus as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306753"}
xref: Orphanet:306753 {source="MONDO:equivalentTo"}
xref: UMLS:CN203543 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0017665 ! rare genetic disease with myoclonus as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203543
property_value: exactMatch Orphanet:306753
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017653
name: epilepsy and/or ataxia with myoclonus as major feature
subset: ordo_group_of_disorders {source="Orphanet:306756"}
xref: Orphanet:306756 {source="MONDO:equivalentTo"}
is_a: MONDO:0017652 {source="Orphanet:306756"} ! rare disease with myoclonus as a major feature
property_value: exactMatch Orphanet:306756

[Term]
id: MONDO:0017654
name: non progressive epilepsy and/or ataxia with myoclonus as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306759"}
xref: Orphanet:306759 {source="MONDO:equivalentTo"}
is_a: MONDO:0017653 {source="Orphanet:306759"} ! epilepsy and/or ataxia with myoclonus as major feature
property_value: exactMatch Orphanet:306759
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017655
name: progressive epilepsy and/or ataxia with myoclonus as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306762"}
xref: Orphanet:306762 {source="MONDO:equivalentTo"}
is_a: MONDO:0017653 {source="Orphanet:306762"} ! epilepsy and/or ataxia with myoclonus as major feature
is_a: MONDO:0100036 {source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy
property_value: exactMatch Orphanet:306762
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017656
name: motor stereotypies
subset: ordo_group_of_disorders {source="Orphanet:306765"}
xref: Orphanet:306765 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:306765", source="Orphanet:306765/inferred"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015957"} ! rare
property_value: exactMatch Orphanet:306765

[Term]
id: MONDO:0017657
name: rare paroxysmal movement disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:306768"}
xref: Orphanet:306768 {source="MONDO:equivalentTo"}
xref: UMLS:CN227171 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:306768"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015957"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227171
property_value: exactMatch Orphanet:306768
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017658
name: hyperekplexia
def: "a neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia" [https://en.wikipedia.org/wiki/Hyperekplexia]
subset: ordo_group_of_disorders {source="Orphanet:306773"}
xref: ICD10:G25.8 {source="ORDO:306773/ntbt"}
xref: Orphanet:306773 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:306773"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare
property_value: exactMatch Orphanet:306773

[Term]
id: MONDO:0017659
name: sporadic hyperekplexia
subset: ordo_disease {source="Orphanet:306776"}
xref: ICD10:G25.8 {source="ORDO:306776/ntbt", source="Orphanet:306776"}
xref: Orphanet:306776 {source="MONDO:equivalentTo"}
is_a: MONDO:0017658 {source="Orphanet:306776"} ! hyperekplexia
property_value: exactMatch Orphanet:306776

[Term]
id: MONDO:0017660
name: obsolete rare genetic parkinsonian disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307052"}
synonym: "rare genetic hypokinetic movement disorder" EXACT [Orphanet:307052]
xref: Orphanet:307052 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227172 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227172
property_value: exactMatch Orphanet:307052
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021095

[Term]
id: MONDO:0017661
name: rare parkinsonian syndrome due to genetic neurodegenerative disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307055"}
xref: Orphanet:307055 {source="MONDO:equivalentTo"}
xref: UMLS:CN203548 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017635 {source="MONDO:cjm"} ! parkinsonian syndrome due to neurodegenerative disease
intersection_of: MONDO:0017635 ! parkinsonian syndrome due to neurodegenerative disease
intersection_of: disease_arises_from_feature MONDO:0024237 ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0024237 ! inherited neurodegenerative disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0017660"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203548
property_value: exactMatch Orphanet:307055
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017662
name: miscellaneous movement disorder due to genetic neurodegenerative disease
subset: ordo_group_of_disorders {source="Orphanet:307058"}
xref: Orphanet:307058 {source="MONDO:equivalentTo"}
xref: UMLS:CN203549 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017641 {source="MONDO:cjm"} ! miscellaneous movement disorder due to neurodegenerative disease
intersection_of: MONDO:0017641 ! miscellaneous movement disorder due to neurodegenerative disease
intersection_of: disease_arises_from_feature MONDO:0024237 ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203549
property_value: exactMatch Orphanet:307058

[Term]
id: MONDO:0017663
name: inherited tremor disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307061", source="Orphanet:307064"}
synonym: "rare genetic myoclonus" EXACT [MONDO:0017664]
xref: Orphanet:307061 {source="MONDO:equivalentTo"}
xref: Orphanet:307064 {source="MONDO:equivalentTo"}
xref: UMLS:CN227173 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN227174 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:307061", source="Orphanet:307061/inferred", source="Orphanet:307064", source="Orphanet:307064/inferred"} ! movement disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0005395 ! movement disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227174
property_value: exactMatch Orphanet:307061
property_value: exactMatch Orphanet:307064
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0017664
name: obsolete rare genetic myoclonus
is_obsolete: true
replaced_by: MONDO:0017663

[Term]
id: MONDO:0017665
name: rare genetic disease with myoclonus as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307067"}
xref: Orphanet:307067 {source="MONDO:equivalentTo"}
xref: UMLS:CN203550 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017663 {source="Orphanet:307067"} ! inherited tremor disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203550
property_value: exactMatch Orphanet:307067
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017666
name: diffuse palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307141"}
synonym: "diffuse keratosis palmoplantaris" EXACT [Orphanet:307141]
synonym: "diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307141]
synonym: "diffuse PPK" EXACT [Orphanet:307141]
xref: HP:0007435
xref: ICD10:Q82.8 {source="ORDO:307141/attributed", source="ORDO:307141/ntbt", source="Orphanet:307141"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:307141 {source="MONDO:equivalentTo"}
xref: SCTID:400123002 {source="MONDO:kboom-pr-1.00/0.80/9.09", source="MONDO:equivalentTo"}
xref: UMLS:C0022584 {source="MEDGEN:kboom-pr98-c99", source="ORDO:307141/e", source="MONDO:equivalentTo", source="Orphanet:307141"}
is_a: MONDO:0019272 {source="Orphanet:307141", source="linkedlifedata"} ! hereditary palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/snomedct/400123002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022584
property_value: exactMatch Orphanet:307141

[Term]
id: MONDO:0017667
name: isolated diffuse palmoplantar keratoderma
def: "A diffuse palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:307148"}
synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148]
synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148]
synonym: "isolated diffuse PPK" EXACT [Orphanet:307148]
synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q82.8 {source="Orphanet:307148", source="ORDO:307148/attributed", source="ORDO:307148/ntbt"}
xref: Orphanet:307148 {source="MONDO:equivalentTo"}
is_a: MONDO:0017666 {source="MONDO:Redundant", source="Orphanet:307148"} ! diffuse palmoplantar keratoderma
intersection_of: MONDO:0017666 ! diffuse palmoplantar keratoderma
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:307148

[Term]
id: MONDO:0017668
name: intellectual disability-short stature-hypertelorism syndrome
def: "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." [Orphanet:3074]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3074"}
synonym: "intellectual deficit - short stature - hypertelorism" RELATED [GARD:0003514]
synonym: "mental retardation short stature hypertelorism" RELATED [GARD:0003514]
synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514, Orphanet:3074]
synonym: "Stoll-Géraudel-Chauvin syndrome" RELATED [GARD:0003514]
xref: GARD:0003514 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3074/attributed", source="ORDO:3074/ntbt", source="Orphanet:3074"}
xref: Orphanet:3074 {source="MONDO:equivalentTo", source="GARD:0003514"}
xref: UMLS:CN203552 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3074", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3074"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203552
property_value: exactMatch Orphanet:3074
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism xsd:anyURI {source="GARD:0003514"}

[Term]
id: MONDO:0017669
name: disease with diffuse palmoplantar keratoderma as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307711"}
synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307711]
xref: ICD10:Q82.8 {source="ORDO:307711/attributed", source="ORDO:307711/ntbt", source="Orphanet:307711"}
xref: Orphanet:307711 {source="MONDO:equivalentTo"}
xref: UMLS:CN203554 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017666 {source="Orphanet:307711"} ! diffuse palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203554
property_value: exactMatch Orphanet:307711
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017670
name: autosomal dominant diffuse mutilating palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307773"}
synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773]
xref: ICD10:Q82.8 {source="ORDO:307773/attributed", source="ORDO:307773/ntbt", source="Orphanet:307773"}
xref: Orphanet:307773 {source="MONDO:equivalentTo"}
xref: UMLS:CN229100 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020094 {source="Orphanet:307773"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229100
property_value: exactMatch Orphanet:307773

[Term]
id: MONDO:0017671
name: autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307804"}
synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307804]
xref: ICD10:Q82.8 {source="Orphanet:307804", source="ORDO:307804/attributed", source="ORDO:307804/ntbt"}
xref: Orphanet:307804 {source="MONDO:equivalentTo"}
xref: UMLS:CN203557 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017669 {source="MONDO:Redundant", source="MONDOLEX:0017671", source="Orphanet:307804"} ! disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203557
property_value: exactMatch Orphanet:307804
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017672
name: focal palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307837"}
synonym: "focal keratosis palmoplantaris" EXACT [Orphanet:307837]
synonym: "focal palmoplantar hyperkeratosis" EXACT [Orphanet:307837]
synonym: "focal PPK" EXACT [Orphanet:307837]
xref: ICD10:Q82.8 {source="Orphanet:307837", source="ORDO:307837/attributed", source="ORDO:307837/ntbt"}
xref: Orphanet:307837 {source="MONDO:equivalentTo"}
is_a: MONDO:0019272 {source="Orphanet:307837"} ! hereditary palmoplantar keratoderma
property_value: exactMatch Orphanet:307837

[Term]
id: MONDO:0017673
name: isolated focal palmoplantar keratoderma
def: "A focal palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:307846"}
synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846]
synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846]
synonym: "isolated focal PPK" EXACT [Orphanet:307846]
synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q82.8 {source="Orphanet:307846", source="ORDO:307846/attributed", source="ORDO:307846/ntbt"}
xref: Orphanet:307846 {source="MONDO:equivalentTo"}
is_a: MONDO:0017672 {source="MONDO:Redundant", source="Orphanet:307846"} ! focal palmoplantar keratoderma
intersection_of: MONDO:0017672 ! focal palmoplantar keratoderma
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:307846

[Term]
id: MONDO:0017674
name: disease with focal palmoplantar keratoderma as a major feature
def: "A disease in which focal palmoplantar keratoderma is a major feature.." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:307871"}
synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307871]
xref: ICD10:Q82.8 {source="ORDO:307871/attributed", source="ORDO:307871/ntbt", source="Orphanet:307871"}
xref: Orphanet:307871 {source="MONDO:equivalentTo"}
xref: UMLS:CN203558 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017672 {source="Orphanet:307871"} ! focal palmoplantar keratoderma
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_has_major_feature MONDO:0017672 ! focal palmoplantar keratoderma
relationship: disease_has_major_feature MONDO:0017672 ! focal palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203558
property_value: exactMatch Orphanet:307871
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017675
name: punctate palmoplantar keratoderma
def: "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [DOID:0060361, https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate]
subset: ordo_group_of_disorders {source="Orphanet:307967"}
synonym: "punctate keratosis palmoplantaris" EXACT [DOID:0060361, Orphanet:307967]
synonym: "punctate palmoplantar hyperkeratosis" EXACT [DOID:0060361, Orphanet:307967]
synonym: "punctate PPK" EXACT [Orphanet:307967]
xref: DOID:0060361 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:307967", source="ORDO:307967/attributed", source="ORDO:307967/ntbt"}
xref: Orphanet:307967 {source="MONDO:equivalentTo", source="DOID:0060361"}
xref: SCTID:402773000 {source="MONDO:equivalentTo", source="DOID:0060361", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4024851 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019272 {source="Orphanet:307967", source="linkedlifedata"} ! hereditary palmoplantar keratoderma
property_value: exactMatch DOID:0060361
property_value: exactMatch http://identifiers.org/snomedct/402773000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274216
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4024851
property_value: exactMatch Orphanet:307967

[Term]
id: MONDO:0017676
name: marginal papular palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307995"}
synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995]
xref: ICD10:Q82.8 {source="Orphanet:307995", source="ORDO:307995/attributed", source="ORDO:307995/ntbt"}
xref: Orphanet:307995 {source="MONDO:equivalentTo"}
is_a: MONDO:0016518 {source="Orphanet:307995"} ! isolated punctate palmoplantar keratoderma
property_value: exactMatch Orphanet:307995

[Term]
id: MONDO:0017677
name: focal acral hyperkeratosis
subset: ordo_disease {source="Orphanet:308013"}
synonym: "PPKP3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "PPPK3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "punctate palmoplantar hyperkeratosis type 3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "punctate palmoplantar keratoderma type 3 without elastoidosis" EXACT [Orphanet:308013]
xref: ICD10:Q82.8 {source="ORDO:308013/attributed", source="ORDO:308013/ntbt", source="Orphanet:308013"}
xref: Orphanet:308013 {source="MONDO:equivalentTo"}
xref: SCTID:400115004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.95"}
xref: UMLS:C1302839 {source="MONDO:equivalentTo", source="Orphanet:308013", source="ORDO:308013/e"}
is_a: MONDO:0017676 {source="Orphanet:308013"} ! marginal papular palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/snomedct/400115004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302839
property_value: exactMatch Orphanet:308013

[Term]
id: MONDO:0017678
name: disease with punctate palmoplantar keratoderma as a major feature
def: "A disease in which punctate palmoplantar keratoderma is a major feature.." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:308023"}
synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308023]
xref: Orphanet:308023 {source="MONDO:equivalentTo"}
xref: UMLS:CN203565 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017675 {source="Orphanet:308023"} ! punctate palmoplantar keratoderma
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_has_major_feature MONDO:0017675 ! punctate palmoplantar keratoderma
relationship: disease_has_major_feature MONDO:0017675 ! punctate palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203565
property_value: exactMatch Orphanet:308023
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017679
name: autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:308031"}
synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308031]
xref: Orphanet:308031 {source="MONDO:equivalentTo"}
xref: UMLS:CN203566 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017678 ! disease with punctate palmoplantar keratoderma as a major feature
intersection_of: MONDO:0000426 ! autosomal dominant disease
intersection_of: disease_has_major_feature MONDO:0017675 ! punctate palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0017678 {source="MONDO:Redundant", source="Orphanet:308031"} ! disease with punctate palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203566
property_value: exactMatch Orphanet:308031
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017680
name: autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:308041"}
synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308041]
xref: Orphanet:308041 {source="MONDO:equivalentTo"}
xref: UMLS:CN203567 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017678 ! disease with punctate palmoplantar keratoderma as a major feature
intersection_of: MONDO:0006025 ! autosomal recessive disease
intersection_of: disease_has_major_feature MONDO:0017675 ! punctate palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0017678 {source="MONDO:Redundant", source="Orphanet:308041"} ! disease with punctate palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203567
property_value: exactMatch Orphanet:308041
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017681
name: erythrokeratoderma variabilis progressiva
def: "Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." [Orphanet:308166]
subset: ordo_group_of_disorders {source="Orphanet:308166"}
xref: ICD10:Q82.8 {source="ORDO:308166/attributed", source="ORDO:308166/ntbt", source="Orphanet:308166"}
xref: Orphanet:308166 {source="MONDO:equivalentTo"}
is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma
property_value: exactMatch Orphanet:308166

[Term]
id: MONDO:0017682
name: intellectual disability-polydactyly-uncombable hair syndrome
def: "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." [Orphanet:3082]
subset: ordo_malformation_syndrome {source="Orphanet:3082"}
synonym: "Kozlowski-Krajewska syndrome" EXACT [Orphanet:3082]
synonym: "mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED [GARD:0003141]
xref: GARD:0003141 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="ORDO:3082/attributed", source="ORDO:3082/ntbt", source="Orphanet:3082"}
xref: MESH:C537615 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3082 {source="MONDO:equivalentTo"}
xref: UMLS:C2931547 {source="MONDO:equivalentTo", source="Orphanet:3082", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3082", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3082"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537615
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931547
property_value: exactMatch Orphanet:3082

[Term]
id: MONDO:0017683
name: methylcobalamin deficiency type cblDv1
subset: ordo_clinical_subtype {source="Orphanet:308380"}
synonym: "functional methionine synthase deficiency type cblDv1" EXACT [Orphanet:308380]
xref: ICD10:E72.1 {source="Orphanet:308380", source="ORDO:308380/attributed", source="ORDO:308380/ntbt"}
xref: Orphanet:308380 {source="MONDO:equivalentTo"}
xref: UMLS:CN203574 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018964 {source="MONDOLEX:0017683", source="Orphanet:308380"} ! homocystinuria without methylmalonic aciduria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203574
property_value: exactMatch Orphanet:308380

[Term]
id: MONDO:0017684
name: disorder of beta and omega amino acid metabolism
subset: ordo_group_of_disorders {source="Orphanet:308407"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:308407 {source="MONDO:equivalentTo"}
xref: SCTID:237940008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342707 {source="ORDO:308407/e", source="Orphanet:308407", source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:308407", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://identifiers.org/snomedct/237940008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342707
property_value: exactMatch Orphanet:308407

[Term]
id: MONDO:0017685
name: vitamin B12-responsive methylmalonic acidemia, type cblDv2
subset: ordo_clinical_subtype {source="Orphanet:308442"}
synonym: "vitamin B12-responsive methylmalonic aciduria, type cblDv2" EXACT [Orphanet:308442]
xref: ICD10:E71.1 {source="ORDO:308442/attributed", source="ORDO:308442/ntbt", source="Orphanet:308442"}
xref: Orphanet:308442 {source="MONDO:equivalentTo"}
xref: UMLS:CN203582 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017214 {source="Orphanet:308442"} ! vitamin B12-responsive methylmalonic acidemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203582
property_value: exactMatch Orphanet:308442

[Term]
id: MONDO:0017686
name: inborn aminoacylase deficiency
def: "An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:308448"}
synonym: "aminoacylase deficiency" RELATED [Orphanet:308448]
synonym: "inborn aminoacylase activity disorder" EXACT []
synonym: "inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aminoacylase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:308448 {source="MONDO:equivalentTo"}
is_a: MONDO:0019213 {source="Orphanet:308448"} ! cerebral organic aciduria
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch Orphanet:308448

[Term]
id: MONDO:0017687
name: disorder of neutral amino acid transport
def: "An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:308451"}
synonym: "inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn neutral amino acid transport disorder" EXACT []
synonym: "rare inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of neutral amino acid transport" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E72.0 {source="ORDO:308451/attributed", source="ORDO:308451/ntbt", source="Orphanet:308451"}
xref: Orphanet:308451 {source="MONDO:equivalentTo"}
xref: UMLS:CN203583 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019216 {source="Orphanet:308451"} ! inborn disorder of amino acid absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203583
property_value: exactMatch Orphanet:308451

[Term]
id: MONDO:0017688
name: disorder of glycolysis
subset: ordo_group_of_disorders {source="Orphanet:308459"}
xref: Orphanet:308459 {source="MONDO:equivalentTo"}
xref: UMLS:CN227176 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016789 ! pyruvate metabolism disorder
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308459"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019254 ! inborn disorder of purine or pyrimidine metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227176
property_value: exactMatch Orphanet:308459

[Term]
id: MONDO:0017689
name: disorder of fructose metabolism
subset: ordo_group_of_disorders {source="Orphanet:308463"}
xref: ICD10:E74.1 {source="ORDO:308463/e", source="Orphanet:308463", source="ORDO:308463/specific"}
xref: Orphanet:308463 {source="MONDO:equivalentTo"}
xref: SCTID:39452003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.77"}
xref: UMLS:C0342744 {source="MONDO:equivalentTo", source="ORDO:308463/e", source="Orphanet:308463"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308463"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://identifiers.org/snomedct/39452003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342744
property_value: exactMatch Orphanet:308463

[Term]
id: MONDO:0017690
name: disorder of galactose metabolism
subset: ordo_group_of_disorders {source="Orphanet:308467"}
xref: ICD10:E74.2 {source="ORDO:308467/e", source="ORDO:308467/specific", source="Orphanet:308467"}
xref: Orphanet:308467 {source="MONDO:equivalentTo"}
xref: SCTID:237963003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342745 {source="MONDO:equivalentTo", source="ORDO:308467/e", source="Orphanet:308467"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308467"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://identifiers.org/snomedct/237963003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342745
property_value: exactMatch Orphanet:308467

[Term]
id: MONDO:0017691
name: erythrocyte galactose epimerase deficiency
subset: ordo_clinical_subtype {source="Orphanet:308473"}
synonym: "erythrocyte epimerase deficiency galactosemia" EXACT [Orphanet:308473]
synonym: "erythrocyte GALE deficiency" EXACT [Orphanet:308473]
synonym: "erythrocyte GALE-D" EXACT [Orphanet:308473]
synonym: "erythrocyte UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308473]
synonym: "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308473]
xref: ICD10:E74.2 {source="ORDO:308473/attributed", source="ORDO:308473/ntbt", source="Orphanet:308473"}
xref: Orphanet:308473 {source="MONDO:equivalentTo"}
xref: SCTID:297238008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0574090 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0009257 {source="MONDOLEX:0017691", source="Orphanet:308473", source="linkedlifedata"} ! galactose epimerase deficiency
property_value: exactMatch http://identifiers.org/snomedct/297238008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574090
property_value: exactMatch Orphanet:308473

[Term]
id: MONDO:0017692
name: generalized galactose epimerase deficiency
subset: ordo_clinical_subtype {source="Orphanet:308487"}
synonym: "generalized epimerase deficiency galactosemia" EXACT [Orphanet:308487]
synonym: "generalized GALE deficiency" EXACT [Orphanet:308487]
synonym: "generalized GALE-D" EXACT [Orphanet:308487]
synonym: "generalized UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308487]
synonym: "generalized uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308487]
xref: ICD10:E74.2 {source="ORDO:308487/attributed", source="ORDO:308487/ntbt", source="Orphanet:308487"}
xref: Orphanet:308487 {source="MONDO:equivalentTo"}
xref: SCTID:297237003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0574089 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0009257 {source="MONDOLEX:0017692", source="Orphanet:308487", source="linkedlifedata"} ! galactose epimerase deficiency
property_value: exactMatch http://identifiers.org/snomedct/297237003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574089
property_value: exactMatch Orphanet:308487

[Term]
id: MONDO:0017693
name: glycogen storage disease due to glycogen synthase deficiency
subset: ordo_group_of_disorders {source="Orphanet:308520"}
synonym: "glycogen storage disease type 0" EXACT [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0]
synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520]
synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520]
synonym: "GSD0" EXACT [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308520/attributed", source="ORDO:308520/ntbt", source="Orphanet:308520"}
xref: Orphanet:308520 {source="MONDO:equivalentTo"}
xref: UMLS:CN203589 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:308520"} ! glycogen storage disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203589
property_value: exactMatch Orphanet:308520

[Term]
id: MONDO:0017694
name: glycogen storage disease due to acid maltase deficiency, infantile onset
def: "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." [Orphanet:308552]
subset: ordo_clinical_subtype {source="Orphanet:308552"}
synonym: "alpha-1,4-glucosidase acid deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogen storage disease type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogen storage disease type II, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis type II, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD type II, infantile onset" EXACT [Orphanet:308552]
synonym: "Pompe disease, infantile onset" EXACT [Orphanet:308552]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308552/attributed", source="ORDO:308552/ntbt", source="Orphanet:308552"}
xref: Orphanet:308552 {source="MONDO:equivalentTo"}
xref: SCTID:722302009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3888924 {source="MONDO:equivalentTo", source="Orphanet:308552"}
xref: UMLS:CN203590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009290 {source="MONDOLEX:0017694", source="Orphanet:308552"} ! glycogen storage disease II
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751173
property_value: exactMatch http://identifiers.org/snomedct/722302009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203590
property_value: exactMatch Orphanet:308552

[Term]
id: MONDO:0017695
name: glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
subset: ordo_clinical_subtype {source="Orphanet:308621"}
synonym: "GBE deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogen storage disease type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogen storage disease type IV, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis type IV, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSD type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSDIV, progressive hepatic form" EXACT [Orphanet:308621]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308621/attributed", source="ORDO:308621/ntbt", source="Orphanet:308621"}
xref: Orphanet:308621 {source="MONDO:equivalentTo"}
xref: UMLS:CN203594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009292 {source="MONDOLEX:0017695", source="Orphanet:308621"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203594
property_value: exactMatch Orphanet:308621

[Term]
id: MONDO:0017696
name: glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
subset: ordo_clinical_subtype {source="Orphanet:308638"}
synonym: "GBE deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogen storage disease type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogen storage disease type IV, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis type IV, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSD type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSDIV, non progressive hepatic form" EXACT [Orphanet:308638]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:308638", source="ORDO:308638/attributed", source="ORDO:308638/ntbt"}
xref: Orphanet:308638 {source="MONDO:equivalentTo"}
xref: UMLS:CN203595 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009292 {source="MONDOLEX:0017696", source="Orphanet:308638"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203595
property_value: exactMatch Orphanet:308638

[Term]
id: MONDO:0017697
name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
subset: ordo_clinical_subtype {source="Orphanet:308655"}
synonym: "GBE deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogen storage disease type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogen storage disease type IV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis type IV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSD type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSDIV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="Orphanet:308655", source="ORDO:308655/attributed", source="ORDO:308655/ntbt"}
xref: Orphanet:308655 {source="MONDO:equivalentTo"}
xref: UMLS:C1856303 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:308655"}
is_a: MONDO:0009292 {source="MONDOLEX:0017697", source="Orphanet:308655"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856303
property_value: exactMatch Orphanet:308655

[Term]
id: MONDO:0017698
name: glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
subset: ordo_clinical_subtype {source="Orphanet:308670"}
synonym: "GBE deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogen storage disease type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogen storage disease type IV, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis type IV, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSD type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSDIV, congenital neuromuscular form" EXACT [Orphanet:308670]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308670/attributed", source="ORDO:308670/ntbt", source="Orphanet:308670"}
xref: Orphanet:308670 {source="MONDO:equivalentTo"}
xref: UMLS:C1856304 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:308670"}
is_a: MONDO:0009292 {source="MONDOLEX:0017698", source="Orphanet:308670"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856304
property_value: exactMatch Orphanet:308670

[Term]
id: MONDO:0017699
name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
subset: ordo_clinical_subtype {source="Orphanet:308684"}
synonym: "GBE deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogen storage disease type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogen storage disease type IV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis type IV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSD type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSDIV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308684/attributed", source="ORDO:308684/ntbt", source="Orphanet:308684"}
xref: MedDRA:10053250 {source="Orphanet:308684", source="ORDO:308684/e"}
xref: Orphanet:308684 {source="MONDO:equivalentTo"}
is_a: MONDO:0009292 {source="MONDOLEX:0017699", source="Orphanet:308684"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://identifiers.org/meddra/10053250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017922
property_value: exactMatch Orphanet:308684

[Term]
id: MONDO:0017700
name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
subset: ordo_clinical_subtype {source="Orphanet:308698"}
synonym: "GBE deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogen storage disease type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogen storage disease type IV, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis type IV, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSD type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSDIV, childhood neuromuscular form" EXACT [Orphanet:308698]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308698/attributed", source="ORDO:308698/ntbt", source="Orphanet:308698"}
xref: Orphanet:308698 {source="MONDO:equivalentTo"}
xref: UMLS:C1856305 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:308698"}
is_a: MONDO:0009292 {source="MONDOLEX:0017700", source="Orphanet:308698"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856305
property_value: exactMatch Orphanet:308698

[Term]
id: MONDO:0017701
name: glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
subset: ordo_clinical_subtype {source="Orphanet:308712"}
synonym: "GBE deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogen storage disease type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogen storage disease type IV, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis type IV, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSD type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSDIV, adult neuromuscular form" EXACT [Orphanet:308712]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:308712/attributed", source="ORDO:308712/ntbt", source="Orphanet:308712"}
xref: Orphanet:308712 {source="MONDO:equivalentTo"}
xref: UMLS:CN203601 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009292 {source="MONDOLEX:0017701", source="Orphanet:308712"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203601
property_value: exactMatch Orphanet:308712

[Term]
id: MONDO:0017702
name: obsolete glycerol kinase deficiency
is_obsolete: true
replaced_by: MONDO:0010613

[Term]
id: MONDO:0017703
name: disorder of glyoxylate metabolism
subset: ordo_group_of_disorders {source="Orphanet:308998"}
xref: Orphanet:308998 {source="MONDO:equivalentTo"}
xref: UMLS:CN227177 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019214 {source="Orphanet:308998"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227177
property_value: exactMatch Orphanet:308998

[Term]
id: MONDO:0017704
name: familial partial epilepsy
def: "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0002173"}
subset: ordo_group_of_disorders {source="Orphanet:309"}
synonym: "epilepsy, partial, familial" RELATED [GARD:0002173]
synonym: "hereditary partial epilepsy" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002173 {source="MONDO:equivalentTo"}
xref: ICD10:G40.1 {source="ORDO:309/attributed", source="ORDO:309/ntbt", source="Orphanet:309"}
xref: Orphanet:309 {source="MONDO:equivalentTo"}
xref: UMLS:CN227178 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005384 ! partial epilepsy
is_a: MONDO:0015654 {source="Orphanet:309"} ! idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
is_a: MONDO:0015922 {source="Orphanet:309"} ! channelopathy with epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020072 {source="Orphanet:309"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020073 {source="Orphanet:309"} ! adolescent-onset epilepsy syndrome
intersection_of: MONDO:0005384 ! partial epilepsy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227178
property_value: exactMatch Orphanet:309
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial xsd:anyURI {source="GARD:0002173"}

[Term]
id: MONDO:0017705
name: congenital pulmonary venous return anomaly
def: "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous." [Orphanet:3090]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:3090"}
synonym: "anomalous pulmonary venous return" RELATED [GARD:0004599]
synonym: "APVR" RELATED [GARD:0004599]
synonym: "congenital pulmonary venous connection anomaly" EXACT [Orphanet:3090]
synonym: "pulmonary venous return anomaly" RELATED [GARD:0004599]
synonym: "scimitar anomaly" RELATED [GARD:0004599]
synonym: "scimitar syndrome" RELATED [GARD:0004599]
synonym: "TAPVR" RELATED [GARD:0004599]
synonym: "TAPVR1" RELATED [GARD:0004599]
synonym: "total anomalous pulmonary venous return" RELATED [GARD:0004599]
xref: GARD:0004599 {source="MONDO:equivalentTo"}
xref: ICD10:Q26.2 {source="ORDO:3090/btnt", source="Orphanet:3090"}
xref: ICD10:Q26.3 {source="ORDO:3090/btnt", source="Orphanet:3090"}
xref: ICD10:Q26.4 {source="ORDO:3090/btnt", source="Orphanet:3090"}
xref: Orphanet:3090 {source="GARD:0004599", source="MONDO:equivalentTo"}
is_a: MONDO:0020295 {source="Orphanet:3090"} ! congenital pulmonary veins anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265916
property_value: exactMatch Orphanet:3090

[Term]
id: MONDO:0017706
name: disorder of carbohydrate absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309001"}
xref: Orphanet:309001 {source="MONDO:equivalentTo"}
xref: UMLS:CN227180 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019214 {source="Orphanet:309001"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227180
property_value: exactMatch Orphanet:309001

[Term]
id: MONDO:0017707
name: obsolete disorder of lipid metabolism
is_obsolete: true
replaced_by: MONDO:0002525

[Term]
id: MONDO:0017708
name: mevalonate kinase deficiency
subset: ordo_group_of_disorders {source="Orphanet:309025"}
xref: MedDRA:10072221 {source="Orphanet:309025", source="ORDO:309025/e"}
xref: Orphanet:309025 {source="MONDO:equivalentTo"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017370 {source="Orphanet:309025"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017953 {source="Orphanet:309025"} ! hereditary periodic fever syndrome
is_a: MONDO:0019240 {source="Orphanet:309025"} ! sterol biosynthesis disorder
property_value: exactMatch http://identifiers.org/meddra/10072221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342731
property_value: exactMatch Orphanet:309025

[Term]
id: MONDO:0017709
name: disorder of lipid absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309028"}
xref: Orphanet:309028 {source="MONDO:equivalentTo"}
xref: UMLS:CN227181 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:309028", source="indirect"} ! pancreas disease
is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:309028"} ! inherited lipid metabolism disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227181
property_value: exactMatch Orphanet:309028

[Term]
id: MONDO:0017710
name: congenital systemic veins anomaly
subset: ordo_group_of_disorders {source="Orphanet:3091"}
xref: Orphanet:3091 {source="MONDO:equivalentTo"}
is_a: MONDO:0018185 {source="Orphanet:3091"} ! congenital anomaly of the great veins
property_value: exactMatch Orphanet:3091

[Term]
id: MONDO:0017711
name: pancreatic colipase deficiency
subset: ordo_disease {source="Orphanet:309108"}
xref: ICD10:K90.3 {source="MONDO:relatedTo", source="ORDO:309108/attributed", source="ORDO:309108/ntbt", source="Orphanet:309108"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:309108 {source="MONDO:equivalentTo"}
xref: SCTID:69478001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.45"}
xref: UMLS:C0268241 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:309108", source="ORDO:309108/e"}
is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency
property_value: exactMatch http://identifiers.org/snomedct/69478001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268241
property_value: exactMatch Orphanet:309108

[Term]
id: MONDO:0017712
name: combined pancreatic lipase-colipase deficiency
def: "\"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." [Orphanet:309111]
subset: ordo_disease {source="Orphanet:309111"}
xref: ICD10:K90.3 {source="MONDO:relatedTo", source="ORDO:309111/attributed", source="ORDO:309111/ntbt", source="Orphanet:309111"}
xref: Orphanet:309111 {source="MONDO:equivalentTo"}
is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency
property_value: exactMatch Orphanet:309111

[Term]
id: MONDO:0017713
name: disorder of fatty acid oxidation and ketogenesis
subset: ordo_group_of_disorders {source="Orphanet:309115"}
xref: ICD10:E71.3 {source="ORDO:309115/attributed", source="ORDO:309115/ntbt", source="Orphanet:309115"}
xref: Orphanet:309115 {source="MONDO:equivalentTo"}
xref: UMLS:CN227183 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019223 {source="Orphanet:309115"} ! inborn disorder of fatty acid oxidation and ketone body metabolism
is_a: MONDO:0037858 ! inherited fatty acid metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227183
property_value: exactMatch Orphanet:309115

[Term]
id: MONDO:0017714
name: acyl-CoA dehydrogenase deficiency
subset: ordo_group_of_disorders {source="Orphanet:309120"}
xref: ICD10:E71.3 {source="Orphanet:309120", source="ORDO:309120/attributed", source="ORDO:309120/ntbt"}
xref: Orphanet:309120 {source="MONDO:equivalentTo"}
xref: SCTID:82319005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268635 {source="Orphanet:309120", source="ORDO:309120/e", source="MONDO:equivalentTo"}
is_a: MONDO:0017713 {source="Orphanet:309120"} ! disorder of fatty acid oxidation and ketogenesis
property_value: exactMatch http://identifiers.org/snomedct/82319005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268635
property_value: exactMatch Orphanet:309120

[Term]
id: MONDO:0017715
name: 3-hydroxyacyl-CoA dehydrogenase deficiency
subset: ordo_group_of_disorders {source="Orphanet:309127"}
xref: ICD10:E71.3 {source="ORDO:309127/attributed", source="ORDO:309127/ntbt", source="Orphanet:309127"}
xref: OMIM:231530 {source="ORDO:71212/e", source="Orphanet:71212", source="MONDO:equivalentTO", source="GARD:0009870"}
xref: Orphanet:309127 {source="MONDO:equivalentTo"}
is_a: MONDO:0017713 {source="Orphanet:309127"} ! disorder of fatty acid oxidation and ketogenesis
property_value: exactMatch http://identifiers.org/omim/231530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291230
property_value: exactMatch Orphanet:309127

[Term]
id: MONDO:0017716
name: disorder of carnitine cycle and carnitine transport
subset: ordo_group_of_disorders {source="Orphanet:309130"}
xref: ICD10:E71.3 {source="Orphanet:309130", source="ORDO:309130/attributed", source="ORDO:309130/ntbt"}
xref: Orphanet:309130 {source="MONDO:equivalentTo"}
xref: UMLS:CN227184 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019223 {source="Orphanet:309130"} ! inborn disorder of fatty acid oxidation and ketone body metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227184
property_value: exactMatch Orphanet:309130

[Term]
id: MONDO:0017717
name: metabolic disease due to other fatty acid oxidation disorder
subset: ordo_group_of_disorders {source="Orphanet:309133"}
xref: ICD10:E71.3 {source="ORDO:309133/attributed", source="ORDO:309133/ntbt", source="Orphanet:309133"}
xref: Orphanet:309133 {source="MONDO:equivalentTo"}
xref: UMLS:CN203613 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019223 {source="Orphanet:309133"} ! inborn disorder of fatty acid oxidation and ketone body metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203613
property_value: exactMatch Orphanet:309133

[Term]
id: MONDO:0017718
name: mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
subset: ordo_group_of_disorders {source="Orphanet:309136"}
xref: Orphanet:309136 {source="MONDO:equivalentTo"}
xref: UMLS:CN227185 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016578 {source="Orphanet:309136"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227185
property_value: exactMatch Orphanet:309136

[Term]
id: MONDO:0017719
name: gangliosidosis
def: "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." [MESH:D005733]
subset: ordo_group_of_disorders {source="Orphanet:309144"}
synonym: "mucolipidosis type IV" EXACT EXCLUDE [DOID:2368]
xref: DOID:2368 {source="MONDO:equivalentTo"}
xref: GARD:0012510 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.0 {source="ORDO:309144/btnt", source="Orphanet:309144", source="MONDO:superClassOf", source="ORDO:309144/specific"}
xref: ICD10:E75.1 {source="ORDO:309144/btnt", source="Orphanet:309144", source="ORDO:309144/specific"}
xref: ICD10:E75.10 {source="DOID:2368"}
xref: Orphanet:309144 {source="MONDO:equivalentTo"}
xref: SCTID:50967008 {source="MONDO:equivalentTo", source="DOID:2368", source="MONDO:kboom-pr-0.85/0.67/0.23"}
xref: UMLS:C0017083 {source="MONDO:equivalentTo", source="Orphanet:309144", source="DOID:2368", source="ORDO:309144/e"}
is_a: MONDO:0018299 {source="Orphanet:309144"} ! sphingolipidosis with epilepsy
property_value: closeMatch http://identifiers.org/mesh/D005733
property_value: exactMatch DOID:2368
property_value: exactMatch http://identifiers.org/snomedct/50967008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017083
property_value: exactMatch Orphanet:309144

[Term]
id: MONDO:0017720
name: GM2 gangliosidosis
def: "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." [EFO-Orphanet:309152]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:309152"}
synonym: "gangliosidosis GM2" EXACT [MONDO:0002608]
synonym: "GM2-gangliosidosis, B, B1, AB variant" RELATED [GARD:0002522]
synonym: "GM>2< gangliosidosis" EXACT [DOID:3321]
xref: DOID:3321 {source="MONDO:equivalentTo"}
xref: GARD:0002522 {source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: ICD10:E75.0 {source="ORDO:309152/e", source="DOID:3321", source="ORDO:309152/specific", source="Orphanet:309152", source="MONDO:equivalentTo"}
xref: ICD10:E75.00 {source="DOID:3321"}
xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"}
xref: Orphanet:309152 {source="MONDO:equivalentTo"}
xref: SCTID:33316007 {source="DOID:3321", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.79"}
xref: UMLS:C0268274 {source="ORDO:309152/e", source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo"}
is_a: MONDO:0017719 {source="DOID:3321", source="Orphanet:309152", source="linkedlifedata"} ! gangliosidosis
is_a: MONDO:0019058 {source="Orphanet:309152"} ! neurometabolic disease
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:309152"} ! inherited neurodegenerative disorder
property_value: exactMatch DOID:3321
property_value: exactMatch http://identifiers.org/mesh/D020143
property_value: exactMatch http://identifiers.org/snomedct/33316007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268274
property_value: exactMatch Orphanet:309152

[Term]
id: MONDO:0017721
name: Sandhoff disease, infantile form
subset: ordo_clinical_subtype {source="Orphanet:309155"}
synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155]
synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309155/attributed", source="ORDO:309155/ntbt", source="Orphanet:309155"}
xref: Orphanet:309155 {source="MONDO:equivalentTo"}
xref: UMLS:CN203617 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010006 {source="MONDOLEX:0017721", source="Orphanet:309155"} ! Sandhoff disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849322
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203617
property_value: exactMatch Orphanet:309155

[Term]
id: MONDO:0017722
name: Sandhoff disease, juvenile form
subset: ordo_clinical_subtype {source="Orphanet:309162"}
synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162]
synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="Orphanet:309162", source="ORDO:309162/attributed", source="ORDO:309162/ntbt"}
xref: Orphanet:309162 {source="MONDO:equivalentTo"}
xref: UMLS:CN203618 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010006 {source="MONDOLEX:0017722", source="Orphanet:309162"} ! Sandhoff disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751491
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203618
property_value: exactMatch Orphanet:309162

[Term]
id: MONDO:0017723
name: Sandhoff disease, adult form
def: "A Sandhoff disease that occurs in an adult." [MONDO:design_pattern]
subset: ordo_clinical_subtype {source="Orphanet:309169"}
synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169]
synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern]
synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169]
synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309169/attributed", source="ORDO:309169/ntbt", source="Orphanet:309169"}
xref: Orphanet:309169 {source="MONDO:equivalentTo"}
xref: UMLS:CN203619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010006 {source="MONDO:Redundant", source="MONDOLEX:0017723", source="Orphanet:309169"} ! Sandhoff disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849320
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203619
property_value: exactMatch Orphanet:309169

[Term]
id: MONDO:0017724
name: Tay-Sachs disease, b variant, infantile form
subset: ordo_clinical_subtype {source="Orphanet:309178"}
synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178]
synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309178/attributed", source="ORDO:309178/ntbt", source="Orphanet:309178"}
xref: Orphanet:309178 {source="MONDO:equivalentTo"}
xref: UMLS:CN203620 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010100 {source="MONDOLEX:0017724", source="Orphanet:309178"} ! Tay-Sachs disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203620
property_value: exactMatch Orphanet:309178

[Term]
id: MONDO:0017725
name: Tay-Sachs disease, b variant, juvenile form
subset: ordo_clinical_subtype {source="Orphanet:309185"}
synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185]
synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="Orphanet:309185", source="ORDO:309185/attributed", source="ORDO:309185/ntbt"}
xref: Orphanet:309185 {source="MONDO:equivalentTo"}
xref: UMLS:CN203621 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010100 {source="MONDOLEX:0017725", source="Orphanet:309185"} ! Tay-Sachs disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203621
property_value: exactMatch Orphanet:309185

[Term]
id: MONDO:0017726
name: Tay-Sachs disease, b variant, adult form
subset: ordo_clinical_subtype {source="Orphanet:309192"}
synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192]
synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="Orphanet:309192", source="ORDO:309192/attributed", source="ORDO:309192/ntbt"}
xref: Orphanet:309192 {source="MONDO:equivalentTo"}
xref: UMLS:C1848914 {source="Orphanet:309192", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010100 {source="MONDOLEX:0017726", source="Orphanet:309192"} ! Tay-Sachs disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848914
property_value: exactMatch Orphanet:309192

[Term]
id: MONDO:0017727
name: fixed subaortic stenosis
def: "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." [Orphanet:3092]
subset: ordo_morphological_anomaly {source="Orphanet:3092"}
xref: ICD10:Q24.4 {source="ORDO:3092/e", source="Orphanet:3092"}
xref: Orphanet:3092 {source="MONDO:equivalentTo"}
is_a: MONDO:0020286 {source="Orphanet:3092"} ! aortic malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848979
property_value: exactMatch Orphanet:3092

[Term]
id: MONDO:0017728
name: Tay-Sachs disease, B1 variant
subset: ordo_clinical_subtype {source="Orphanet:309239"}
synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239]
synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239]
xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309239/attributed", source="ORDO:309239/ntbt", source="Orphanet:309239"}
xref: Orphanet:309239 {source="MONDO:equivalentTo"}
xref: SCTID:238024005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0010100 {source="MONDOLEX:0017728", source="Orphanet:309239", source="linkedlifedata"} ! Tay-Sachs disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848916
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749283
property_value: exactMatch http://identifiers.org/snomedct/238024005
property_value: exactMatch Orphanet:309239

[Term]
id: MONDO:0017729
name: metachromatic leukodystrophy, late infantile form
subset: ordo_clinical_subtype {source="Orphanet:309256"}
synonym: "arylsulfatase A deficiency, late infantile form" EXACT [Orphanet:309256]
synonym: "MLD, late infantile form" EXACT [Orphanet:309256]
xref: ICD10:E75.2 {source="ORDO:309256/attributed", source="ORDO:309256/ntbt", source="Orphanet:309256"}
xref: Orphanet:309256 {source="MONDO:equivalentTo"}
is_a: MONDO:0009591 {source="MONDOLEX:0017729"} ! metachromatic leukodystrophy, juvenile form
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751278
property_value: exactMatch Orphanet:309256

[Term]
id: MONDO:0017730
name: metachromatic leukodystrophy, adult form
subset: ordo_clinical_subtype {source="Orphanet:309271"}
synonym: "arylsulfatase A deficiency, adult form" EXACT [Orphanet:309271]
synonym: "MLD, adult form" EXACT [Orphanet:309271]
xref: ICD10:E75.2 {source="Orphanet:309271", source="ORDO:309271/attributed", source="ORDO:309271/ntbt"}
xref: Orphanet:309271 {source="MONDO:equivalentTo"}
is_a: MONDO:0009591 {source="MONDOLEX:0017730"} ! metachromatic leukodystrophy, juvenile form
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751279
property_value: exactMatch Orphanet:309271

[Term]
id: MONDO:0017731
name: glycoproteinosis
comment: See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 {source="MONDO:cjm"}
subset: gard_rare {source="GARD:0010670"}
subset: ordo_group_of_disorders {source="Orphanet:309279"}
xref: GARD:0010670 {source="MONDO:equivalentTo"}
xref: ICD10:E77.0 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"}
xref: ICD10:E77.1 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"}
xref: ICD10:E77.8 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"}
xref: ICD10:E77.9 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"}
xref: Orphanet:309279 {source="MONDO:equivalentTo"}
is_a: MONDO:0002561 {source="Orphanet:309279"} ! lysosomal storage disease
property_value: exactMatch Orphanet:309279
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis xsd:anyURI {source="GARD:0010670"}

[Term]
id: MONDO:0017732
name: alpha-mannosidosis, infantile form
subset: ordo_clinical_subtype {source="Orphanet:309282"}
synonym: "lysosomal alpha-D-mannosidase deficiency, infantile form" EXACT [Orphanet:309282]
xref: ICD10:E77.1 {source="Orphanet:309282", source="ORDO:309282/attributed", source="ORDO:309282/ntbt"}
xref: Orphanet:309282 {source="MONDO:equivalentTo"}
is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis
property_value: exactMatch Orphanet:309282

[Term]
id: MONDO:0017733
name: alpha-mannosidosis, adult form
subset: ordo_clinical_subtype {source="Orphanet:309288"}
synonym: "Alpha-mannosidosis adult-onset form" RELATED [GTR:AN0103811]
synonym: "lysosomal alpha-D-mannosidase deficiency, adult form" EXACT [Orphanet:309288]
xref: GTR:AN0103810 {source="UMLS:CN036949"}
xref: GTR:AN0103811 {source="UMLS:CN036949"}
xref: ICD10:E77.1 {source="ORDO:309288/attributed", source="ORDO:309288/ntbt", source="Orphanet:309288"}
xref: Orphanet:309288 {source="MONDO:equivalentTo"}
xref: UMLS:CN036949 {source="MONDO:equivalentTo"}
is_a: MONDO:0009561 {source="Orphanet:309288"} ! alpha-mannosidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036949
property_value: exactMatch Orphanet:309288

[Term]
id: MONDO:0017734
name: sialidosis
def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." [Orphanet:309294]
subset: ordo_group_of_disorders {source="Orphanet:309294"}
xref: ICD10:E77.1 {source="Orphanet:309294", source="ORDO:309294/inclusion", source="ORDO:309294/ntbt"}
xref: MedDRA:10058800 {source="Orphanet:309294", source="ORDO:309294/e"}
xref: Orphanet:309294 {source="MONDO:equivalentTo"}
xref: SCTID:38795005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.56/0.09"}
is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis
property_value: exactMatch http://identifiers.org/meddra/10058800
property_value: exactMatch http://identifiers.org/snomedct/38795005
property_value: exactMatch Orphanet:309294

[Term]
id: MONDO:0017735
name: congenital aortic valve stenosis
subset: ordo_morphological_anomaly {source="Orphanet:3093"}
xref: COHD:314457 {source="MONDO:equivalentTo"}
xref: ICD10:Q23.0 {source="Orphanet:3093", source="ORDO:3093/e"}
xref: ICD9:746.3 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10010371 {source="Orphanet:3093", source="ORDO:3093/e"}
xref: Orphanet:3093 {source="MONDO:equivalentTo"}
xref: SCTID:18546004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.66/0.31/0.09"}
is_a: MONDO:0042981 {source="linkedlifedata"} ! aortic valve stenosis
property_value: exactMatch http://identifiers.org/meddra/10010371
property_value: exactMatch http://identifiers.org/snomedct/18546004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152417
property_value: exactMatch Orphanet:3093

[Term]
id: MONDO:0017736
name: disorder of sialic acid metabolism
subset: ordo_group_of_disorders {source="Orphanet:309319"}
xref: ICD10:E77.8 {source="Orphanet:309319", source="ORDO:309319/attributed", source="ORDO:309319/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:309319 {source="MONDO:equivalentTo"}
xref: SCTID:238050009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342851 {source="Orphanet:309319", source="ORDO:309319/e", source="MONDO:equivalentTo"}
is_a: MONDO:0002561 {source="Orphanet:309319"} ! lysosomal storage disease
property_value: exactMatch http://identifiers.org/snomedct/238050009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342851
property_value: exactMatch Orphanet:309319

[Term]
id: MONDO:0017737
name: intermediate severe Salla disease
subset: gard_rare {source="GARD:0010871"}
subset: ordo_clinical_subtype {source="Orphanet:309331"}
synonym: "Intermediate Salla disease" RELATED [GARD:0010871]
xref: GARD:0010871 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="ORDO:309331/attributed", source="ORDO:309331/ntbt", source="Orphanet:309331"}
xref: Orphanet:309331 {source="MONDO:equivalentTo"}
xref: UMLS:CN203640 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019366 {source="Orphanet:309331"} ! free sialic acid storage disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203640
property_value: exactMatch Orphanet:309331
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease xsd:anyURI {source="GARD:0010871"}

[Term]
id: MONDO:0017738
name: lysosomal glycogen storage disease
subset: ordo_group_of_disorders {source="Orphanet:309337"}
xref: ICD10:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337", source="ORDO:309337/attributed", source="ORDO:309337/ntbt"}
xref: Orphanet:309337 {source="MONDO:equivalentTo"}
xref: UMLS:CN203642 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002561 {source="Orphanet:309337"} ! lysosomal storage disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203642
property_value: exactMatch Orphanet:309337

[Term]
id: MONDO:0017739
name: disorder of lysosomal-related organelles
subset: ordo_group_of_disorders {source="Orphanet:309340"}
xref: Orphanet:309340 {source="MONDO:equivalentTo"}
xref: UMLS:CN227186 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="Orphanet:309340"} ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227186
property_value: exactMatch Orphanet:309340

[Term]
id: MONDO:0017740
name: disorder of protein N-glycosylation
def: "A disease that has its basis in the disruption of protein N-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
subset: ordo_group_of_disorders {source="Orphanet:309347"}
synonym: "disorder of protein N-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of protein N-linked glycosylation" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern]
xref: ICD10:E77.8 {source="ORDO:309347/attributed", source="ORDO:309347/ntbt", source="Orphanet:309347"}
xref: Orphanet:309347 {source="MONDO:equivalentTo"}
xref: UMLS:CN227187 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="Orphanet:309347"} ! congenital disorder of glycosylation
is_a: MONDO:0045010 ! glycoprotein metabolism disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227187
property_value: exactMatch Orphanet:309347

[Term]
id: MONDO:0017741
name: disorder of protein O-glycosylation
def: "A disease that has its basis in the disruption of protein O-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
subset: ordo_group_of_disorders {source="Orphanet:309447"}
synonym: "disorder of protein O-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of protein O-linked glycosylation" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern]
xref: ICD10:E77.8 {source="Orphanet:309447", source="ORDO:309447/attributed", source="ORDO:309447/ntbt"}
xref: Orphanet:309447 {source="MONDO:equivalentTo"}
xref: UMLS:CN227188 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="Orphanet:309447"} ! congenital disorder of glycosylation
is_a: MONDO:0045010 ! glycoprotein metabolism disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227188
property_value: exactMatch Orphanet:309447

[Term]
id: MONDO:0017742
name: disorder of O-xylosylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309450"}
xref: ICD10:E77.8 {source="Orphanet:309450", source="ORDO:309450/attributed", source="ORDO:309450/ntbt"}
xref: Orphanet:309450 {source="MONDO:equivalentTo"}
xref: UMLS:CN227189 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017741 {source="Orphanet:309450"} ! disorder of protein O-glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227189
property_value: exactMatch Orphanet:309450

[Term]
id: MONDO:0017743
name: disorder of O-N-acetylgalactosaminylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309458"}
xref: ICD10:E77.8 {source="Orphanet:309458", source="ORDO:309458/attributed", source="ORDO:309458/ntbt"}
xref: Orphanet:309458 {source="MONDO:equivalentTo"}
xref: UMLS:CN227190 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017741 {source="Orphanet:309458"} ! disorder of protein O-glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227190
property_value: exactMatch Orphanet:309458

[Term]
id: MONDO:0017744
name: disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309463"}
xref: ICD10:E77.8 {source="ORDO:309463/attributed", source="ORDO:309463/ntbt", source="Orphanet:309463"}
xref: Orphanet:309463 {source="MONDO:equivalentTo"}
xref: UMLS:CN227191 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017741 {source="Orphanet:309463"} ! disorder of protein O-glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227191
property_value: exactMatch Orphanet:309463

[Term]
id: MONDO:0017745
name: disorder of O-mannosylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309469"}
xref: ICD10:E77.8 {source="Orphanet:309469", source="ORDO:309469/attributed", source="ORDO:309469/ntbt"}
xref: Orphanet:309469 {source="MONDO:equivalentTo"}
xref: UMLS:CN227192 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017741 {source="Orphanet:309469"} ! disorder of protein O-glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227192
property_value: exactMatch Orphanet:309469

[Term]
id: MONDO:0017746
name: atypical Rett syndrome
def: "Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term)." [Orphanet:3095]
subset: ordo_disease {source="Orphanet:3095"}
synonym: "atypical RTT" EXACT [Orphanet:3095]
synonym: "Rett like syndrome" RELATED [GARD:0004694]
synonym: "Rett syndrome variant" EXACT [Orphanet:3095]
xref: GARD:0004694 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:F84.2 {source="ORDO:3095/attributed", source="ORDO:3095/ntbt", source="Orphanet:3095"}
xref: Orphanet:3095 {source="MONDO:equivalentTo"}
xref: SCTID:718393002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.13"}
xref: UMLS:C2748910 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:3095"}
is_a: MONDO:0000594 {source="MONDO:Redundant", source="Orphanet:3095", source="indirect"} ! pervasive developmental disorder
is_a: MONDO:0017656 {source="MONDO:Redundant", source="Orphanet:3095", source="indirect"} ! motor stereotypies
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="MONDO:Redundant", source="Orphanet:3095", source="indirect"} ! X-linked syndromic intellectual disability
is_a: MONDO:0100148 ! X-linked complex neurodevelopmental disorder
relationship: disease_shares_features_of MONDO:0010726 ! Rett syndrome
relationship: excluded_subClassOf MONDO:0015653 {source="MONDO:Redundant", source="Orphanet:3095", source="indirect"} ! monogenic epilepsy
property_value: exactMatch http://identifiers.org/snomedct/718393002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748910
property_value: exactMatch Orphanet:3095

[Term]
id: MONDO:0017747
name: disorder of fucoglycosan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309505"}
xref: ICD10:E77.8 {source="Orphanet:309505", source="ORDO:309505/attributed", source="ORDO:309505/ntbt"}
xref: Orphanet:309505 {source="MONDO:equivalentTo"}
xref: UMLS:CN227193 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017741 {source="Orphanet:309505"} ! disorder of protein O-glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227193
property_value: exactMatch Orphanet:309505

[Term]
id: MONDO:0017748
name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
subset: ordo_group_of_disorders {source="Orphanet:309515"}
synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515]
synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515]
xref: ICD10:E77.8 {source="ORDO:309515/attributed", source="ORDO:309515/ntbt", source="Orphanet:309515"}
xref: Orphanet:309515 {source="MONDO:equivalentTo"}
xref: UMLS:CN227194 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0015286 {source="Orphanet:309515"} ! congenital disorder of glycosylation
is_a: MONDO:0024321 {source="MONDO:cjm"} ! disorder of GPI anchor biosynthesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227194
property_value: exactMatch Orphanet:309515

[Term]
id: MONDO:0017749
name: disorder of multiple glycosylation
subset: ordo_group_of_disorders {source="Orphanet:309526"}
xref: ICD10:E77.8 {source="ORDO:309526/attributed", source="ORDO:309526/ntbt", source="Orphanet:309526"}
xref: Orphanet:309526 {source="MONDO:equivalentTo"}
xref: UMLS:CN227195 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="Orphanet:309526"} ! congenital disorder of glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227195
property_value: exactMatch Orphanet:309526

[Term]
id: MONDO:0017750
name: defect in conserved oligomeric Golgi complex
subset: ordo_group_of_disorders {source="Orphanet:309568"}
synonym: "defect in COG complex" EXACT [Orphanet:309568]
xref: ICD10:E77.8 {source="Orphanet:309568", source="ORDO:309568/attributed", source="ORDO:309568/ntbt"}
xref: Orphanet:309568 {source="MONDO:equivalentTo"}
is_a: MONDO:0017749 {source="MONDO:Redundant", source="Orphanet:309568"} ! disorder of multiple glycosylation
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: exactMatch Orphanet:309568

[Term]
id: MONDO:0017751
name: obsolete Reye syndrome
is_obsolete: true
replaced_by: MONDO:0005942

[Term]
id: MONDO:0017752
name: defect in V-ATPase
subset: ordo_group_of_disorders {source="Orphanet:309778"}
xref: ICD10:E77.8 {source="ORDO:309778/attributed", source="ORDO:309778/ntbt", source="Orphanet:309778"}
xref: Orphanet:309778 {source="MONDO:equivalentTo"}
is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylation
property_value: exactMatch Orphanet:309778

[Term]
id: MONDO:0017753
name: disorder of peroxisomal alpha-, beta- and omega-oxidation
subset: gard_rare {source="GARD:0012476"}
subset: ordo_group_of_disorders {source="Orphanet:309810"}
xref: GARD:0012476 {source="MONDO:equivalentTo"}
xref: Orphanet:309810 {source="MONDO:equivalentTo"}
xref: UMLS:CN227198 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019053 {source="Orphanet:309810"} ! peroxisomal disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227198
property_value: exactMatch Orphanet:309810
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation xsd:anyURI {source="GARD:0012476"}

[Term]
id: MONDO:0017754
name: inborn disorder of porphyrin metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired.
subset: ordo_group_of_disorders {source="Orphanet:309813"}
synonym: "disorder of porphyrin and haem metabolism" BROAD [Orphanet:309813]
synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [Orphanet:309813]
synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT []
synonym: "inherited disorder of porphyrin metabolism" EXACT []
synonym: "rare inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of porphyrin-containing compound metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E80.0 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.1 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.2 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.3 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.4 {source="Orphanet:309813", source="MONDO:relatedTo", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.5 {source="Orphanet:309813", source="MONDO:superClassOf", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.6 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: ICD10:E80.7 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"}
xref: Orphanet:309813 {source="MONDO:equivalentTo"}
xref: SCTID:403832004 {source="MONDO:equivalentTo"}
xref: UMLS:C1275125 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:309813"} ! inborn errors of metabolism
is_a: MONDO:0037821 {source="MONDO:Redundant", source="linkedlifedata"} ! porphyrin metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/403832004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275125
property_value: exactMatch Orphanet:309813

[Term]
id: MONDO:0017755
name: inborn disorder of bilirubin metabolism
def: "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:309816"}
synonym: "bilirubin metabolism disorder" RELATED []
synonym: "disorder of bilirubin metabolism" EXACT [MONDO:0024289]
synonym: "disorder of bilirubin metabolism and excretion" EXACT []
synonym: "hereditary bilirubin metabolism disease" EXACT [MONDO:patterns/hereditary]
synonym: "inborn disorder of bilirubin metabolism and excretion" EXACT []
xref: Orphanet:309816 {source="MONDO:equivalentTo"}
xref: UMLS:CN227200 {source="MONDO:equivalentTo"}
is_a: MONDO:0017754 {source="Orphanet:309816"} ! inborn disorder of porphyrin metabolism
is_a: MONDO:0024431 ! bilirubin metabolism disease
intersection_of: MONDO:0024431 ! bilirubin metabolism disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227200
property_value: exactMatch Orphanet:309816

[Term]
id: MONDO:0017756
name: disorder of pterin metabolism
subset: ordo_group_of_disorders {source="Orphanet:309819"}
xref: Orphanet:309819 {source="MONDO:equivalentTo"}
xref: UMLS:CN227201 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019219 {source="Orphanet:309819"} ! inborn disorder of neurotransmitter metabolism and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227201
property_value: exactMatch Orphanet:309819

[Term]
id: MONDO:0017757
name: disorder of metabolite absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309824"}
xref: Orphanet:309824 {source="MONDO:equivalentTo"}
xref: UMLS:CN227202 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="Orphanet:309824"} ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227202
property_value: exactMatch Orphanet:309824

[Term]
id: MONDO:0017758
name: disorder of vitamin and non-protein cofactor absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309827"}
synonym: "disorder of vitamin and non-protein cofactor absorption and transport" EXACT [Orphanet:309827]
xref: Orphanet:309827 {source="MONDO:equivalentTo"}
xref: UMLS:CN227203 {source="MONDO:equivalentTo"}
is_a: MONDO:0017757 {source="Orphanet:309827"} ! disorder of metabolite absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227203
property_value: exactMatch Orphanet:309827

[Term]
id: MONDO:0017759
name: disorder of catecholamine synthesis
subset: ordo_group_of_disorders {source="Orphanet:309830"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:309830 {source="MONDO:equivalentTo"}
xref: SCTID:237921002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342685 {source="MONDO:equivalentTo", source="Orphanet:309830", source="ORDO:309830/e"}
is_a: MONDO:0019219 {source="MONDO:Redundant", source="Orphanet:309830"} ! inborn disorder of neurotransmitter metabolism and transport
property_value: exactMatch http://identifiers.org/snomedct/237921002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342685
property_value: exactMatch Orphanet:309830

[Term]
id: MONDO:0017760
name: disorder of other vitamins and cofactors metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:309833"}
xref: Orphanet:309833 {source="MONDO:equivalentTo"}
xref: UMLS:CN227204 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017758 {source="Orphanet:309833"} ! disorder of vitamin and non-protein cofactor absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227204
property_value: exactMatch Orphanet:309833

[Term]
id: MONDO:0017761
name: disorder of mineral absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309836"}
xref: ICD10:E83.0 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.2 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.3 {source="Orphanet:309836", source="MONDO:relatedTo", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.4 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.5 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.8 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: ICD10:E83.9 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"}
xref: Orphanet:309836 {source="MONDO:equivalentTo"}
xref: UMLS:CN227205 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017757 {source="Orphanet:309836"} ! disorder of metabolite absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227205
property_value: exactMatch Orphanet:309836

[Term]
id: MONDO:0017762
name: disorder of copper metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:309839"}
synonym: "copper Transport disorders" RELATED [GTR:AN0119091]
synonym: "inborn cellular copper ion homeostasis disorder" EXACT []
synonym: "inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cellular copper ion homeostasis" RELATED [MONDO:patterns/inborn_metabolic]
xref: COHD:436672 {source="MONDO:equivalentTo"}
xref: ICD10:E83.0 {source="ORDO:309839/e", source="ORDO:309839/specific", source="Orphanet:309839"}
xref: ICD9:275.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10061091 {source="ORDO:309839/e", source="Orphanet:309839"}
xref: Orphanet:309839 {source="MONDO:equivalentTo"}
xref: SCTID:79886009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0012714 {source="ORDO:309839/e", source="Orphanet:309839", source="MONDO:equivalentTo"}
xref: UMLS:CN043585 {source="MONDO:equivalentTo"}
is_a: MONDO:0017761 {source="Orphanet:309839"} ! disorder of mineral absorption and transport
property_value: exactMatch http://identifiers.org/meddra/10061091
property_value: exactMatch http://identifiers.org/snomedct/79886009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012714
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043585
property_value: exactMatch Orphanet:309839

[Term]
id: MONDO:0017763
name: disorder of iron metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:309842"}
xref: ICD10:E83.1 {source="MONDO:relatedTo", source="ORDO:309842/e", source="ORDO:309842/specific", source="Orphanet:309842"}
xref: Orphanet:309842 {source="MONDO:equivalentTo"}
xref: UMLS:CN227206 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017761 {source="Orphanet:309842"} ! disorder of mineral absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227206
property_value: exactMatch Orphanet:309842

[Term]
id: MONDO:0017764
name: disorder of zinc metabolism
subset: ordo_group_of_disorders {source="Orphanet:309845"}
synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845]
xref: ICD10:E83.2 {source="ORDO:309845/specific", source="Orphanet:309845", source="ORDO:309845/e"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048260 {source="Orphanet:309845", source="ORDO:309845/e"}
xref: Orphanet:309845 {source="MONDO:equivalentTo"}
xref: SCTID:46727001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017761 {source="Orphanet:309845"} ! disorder of mineral absorption and transport
property_value: exactMatch http://identifiers.org/meddra/10048260
property_value: exactMatch http://identifiers.org/snomedct/46727001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268085
property_value: exactMatch Orphanet:309845

[Term]
id: MONDO:0017765
name: disorder of magnesium transport
def: "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:309848"}
synonym: "inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn magnesium ion transport disorder" EXACT []
synonym: "rare inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of magnesium ion transport" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E83.4 {source="Orphanet:309848", source="ORDO:309848/attributed", source="ORDO:309848/ntbt"}
xref: Orphanet:309848 {source="MONDO:equivalentTo"}
xref: UMLS:CN227207 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017761 {source="Orphanet:309848"} ! disorder of mineral absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227207
property_value: exactMatch Orphanet:309848

[Term]
id: MONDO:0017766
name: disorder of manganese transport
subset: ordo_group_of_disorders {source="Orphanet:309851"}
xref: ICD10:E83.8 {source="ORDO:309851/attributed", source="ORDO:309851/ntbt", source="Orphanet:309851"}
xref: Orphanet:309851 {source="MONDO:equivalentTo"}
xref: UMLS:CN227208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017761 {source="Orphanet:309851"} ! disorder of mineral absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227208
property_value: exactMatch Orphanet:309851

[Term]
id: MONDO:0017767
name: rheumatic fever
def: "Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." [Orphanet:3099]
subset: gard_rare {source="GARD:0005699"}
subset: ordo_disease {source="Orphanet:3099"}
synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD9CM_2006:390-392.99, Orphanet:3099]
synonym: "ARF" EXACT [NCIT:C34984]
synonym: "inflammatory rheumatism" RELATED [GARD:0005699]
synonym: "RHF - rheumatic fever" EXACT [DOID:1586]
xref: DOID:1586 {source="MONDO:equivalentTo", source="EFO:1001160"}
xref: EFO:1001160 {source="MONDO:equivalentTo"}
xref: GARD:0005699 {source="MONDO:equivalentTo"}
xref: ICD10:I00 {source="DOID:1586", source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD10:I00-I02 {source="DOID:1586"}
xref: ICD10:I01.0 {source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD10:I01.1 {source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD10:I01.2 {source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD10:I01.8 {source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD10:I01.9 {source="ORDO:3099/btnt", source="Orphanet:3099"}
xref: ICD9:390 {source="DOID:1586"}
xref: ICD9:390-392.99 {source="DOID:1586"}
xref: MedDRA:10039054 {source="Orphanet:3099", source="EFO:1001160", source="ORDO:3099/e"}
xref: MESH:D012213 {source="DOID:1586", source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:3099", source="EFO:1001160", source="ORDO:3099/e"}
xref: NCIT:C34984 {source="DOID:1586", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1001160"}
xref: Orphanet:3099 {source="MONDO:equivalentTo"}
xref: SCTID:58718002 {source="DOID:1586", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.53", source="EFO:1001160"}
xref: UMLS:C0035436 {source="DOID:1586", source="MONDO:equivalentTo", source="NCIT:C34984", source="Orphanet:3099", source="ORDO:3099/e"}
is_a: MONDO:0003900 {source="DOID:1586", source="MESH:D012213/inferred"} ! connective tissue disease
is_a: MONDO:0005113 {source="MESH:D012213/inferred", source="MONDO:Redundant", source="NCIT:C34984"} ! bacterial infectious disease
is_a: MONDO:0005172 {source="EFO:1001160"} ! skeletal system disease
is_a: MONDO:0015938 {source="Orphanet:3099"} ! systemic disease
property_value: closeMatch http://identifiers.org/snomedct/155264006
property_value: closeMatch http://identifiers.org/snomedct/155265007
property_value: closeMatch http://identifiers.org/snomedct/155274009
property_value: closeMatch http://identifiers.org/snomedct/194718003
property_value: closeMatch http://identifiers.org/snomedct/195528001
property_value: closeMatch http://identifiers.org/snomedct/24363009
property_value: closeMatch http://identifiers.org/snomedct/26424001
property_value: closeMatch http://identifiers.org/snomedct/266276003
property_value: closeMatch http://identifiers.org/snomedct/274095001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264743
property_value: exactMatch DOID:1586
property_value: exactMatch http://identifiers.org/meddra/10039054
property_value: exactMatch http://identifiers.org/mesh/D012213
property_value: exactMatch http://identifiers.org/snomedct/58718002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035436
property_value: exactMatch NCIT:C34984
property_value: exactMatch Orphanet:3099
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever xsd:anyURI {source="GARD:0005699"}

[Term]
id: MONDO:0017768
name: reflex epilepsy
def: "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." [Orphanet:310]
subset: ordo_group_of_disorders {source="Orphanet:310"}
synonym: "epilepsy, sensory-induced" EXACT [DOID:2548, MTHICD9_2006:345.5]
xref: DOID:2548 {source="MONDO:equivalentTo", source="EFO:1001146"}
xref: EFO:1001146 {source="MONDO:equivalentTo"}
xref: ICD10:G40.8 {source="ORDO:310/ntbt", source="Orphanet:310"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020195 {source="MONDO:equivalentTo", source="EFO:1001146", source="ORDO:310/e", source="DOID:2548", source="Orphanet:310"}
xref: NCIT:C85041 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:1001146", source="DOID:2548"}
xref: Orphanet:310 {source="MONDO:equivalentTo"}
xref: SCTID:79745005 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270857 {source="MONDO:equivalentTo", source="NCIT:C85041", source="ORDO:310/e", source="DOID:2548", source="Orphanet:310"}
is_a: MONDO:0100036 {source="DOID:2548", source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy
relationship: excluded_subClassOf MONDO:0020072 {source="Orphanet:310"} ! childhood-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0020073 {source="Orphanet:310"} ! adolescent-onset epilepsy syndrome
property_value: exactMatch DOID:2548
property_value: exactMatch http://identifiers.org/mesh/D020195
property_value: exactMatch http://identifiers.org/snomedct/79745005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270857
property_value: exactMatch NCIT:C85041
property_value: exactMatch Orphanet:310

[Term]
id: MONDO:0017769
name: acquired immunodeficiency
subset: ordo_group_of_disorders {source="Orphanet:310050"}
xref: Orphanet:310050 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="Orphanet:310050"} ! immune system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001175
property_value: exactMatch Orphanet:310050

[Term]
id: MONDO:0017770
name: Robinow-like syndrome
def: "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (see this term; short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." [Orphanet:3105]
subset: ordo_malformation_syndrome {source="Orphanet:3105"}
synonym: "Saal-Greenstein syndrome" EXACT [Orphanet:3105]
xref: ICD10:Q87.1 {source="Orphanet:3105", source="ORDO:3105/attributed", source="ORDO:3105/ntbt"}
xref: Orphanet:3105 {source="MONDO:equivalentTo"}
xref: SCTID:721905000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4302956 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN203671 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0043007 {source="Orphanet:3105"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/snomedct/721905000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302956
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203671
property_value: exactMatch Orphanet:3105

[Term]
id: MONDO:0017771
name: Mayer-Rokitansky-Kuster-Hauser syndrome
def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms)." [Orphanet:3109]
subset: ordo_malformation_syndrome {source="Orphanet:3109"}
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [Orphanet:3109]
synonym: "MRKH" EXACT [NCIT:C124853]
synonym: "MRKH syndrome" EXACT [Orphanet:3109]
synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853]
synonym: "Rokitansky syndrome" EXACT [Orphanet:3109]
xref: ICD10:Q51.8 {source="ORDO:3109/attributed", source="ORDO:3109/ntbt", source="Orphanet:3109"}
xref: MedDRA:10065148 {source="Orphanet:3109", source="ORDO:3109/e"}
xref: NCIT:C124853 {source="MONDO:kboom-pr-0.90/0.66/1.22", source="MONDO:equivalentTo"}
xref: Orphanet:3109 {source="MONDO:equivalentTo"}
is_a: MONDO:0015830 {source="Orphanet:3109"} ! partial bilateral aplasia of the mullerian ducts
is_a: MONDO:0015846 ! syndromic uterovaginal malformation
is_a: MONDO:0018414 {source="Orphanet:3109"} ! female infertility due to an implantation defect of genetic origin
is_a: MONDO:0019721 {source="Orphanet:3109"} ! syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1698581
property_value: exactMatch http://identifiers.org/meddra/10065148
property_value: exactMatch NCIT:C124853
property_value: exactMatch Orphanet:3109

[Term]
id: MONDO:0017772
name: oral erosive lichen
subset: ordo_disease {source="Orphanet:31142"}
xref: ICD10:L43.8 {source="ORDO:31142/ntbt", source="Orphanet:31142"}
xref: Orphanet:31142 {source="MONDO:equivalentTo"}
xref: UMLS:CN203692 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019546 {source="Orphanet:31142"} ! other acquired skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203692
property_value: exactMatch Orphanet:31142

[Term]
id: MONDO:0017773
name: hypoalphalipoproteinemia
def: "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." [NCIT:C84774]
subset: ordo_group_of_disorders {source="Orphanet:31153"}
xref: ICD10:E78.6 {source="ORDO:31153/attributed", source="ORDO:31153/ntbt", source="Orphanet:31153"}
xref: MedDRA:10065156 {source="ORDO:31153/e", source="Orphanet:31153"}
xref: MESH:D052456 {source="MONDO:equivalentTo", source="ORDO:31153/e", source="Orphanet:31153"}
xref: NCIT:C84774 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:31153 {source="MONDO:equivalentTo"}
xref: SCTID:190785000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0473527 {source="MONDO:equivalentTo", source="ORDO:31153/e", source="Orphanet:31153", source="NCIT:C84774"}
is_a: MONDO:0005066 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015904"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10065156
property_value: exactMatch http://identifiers.org/mesh/D052456
property_value: exactMatch http://identifiers.org/snomedct/190785000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473527
property_value: exactMatch NCIT:C84774
property_value: exactMatch Orphanet:31153

[Term]
id: MONDO:0017774
name: hypobetalipoproteinemia
def: "Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." [Orphanet:31154]
subset: ordo_group_of_disorders {source="Orphanet:31154"}
synonym: "hypo-beta-lipoproteinemia" EXACT [DOID:1390]
xref: DOID:1390 {source="MONDO:equivalentTo"}
xref: ICD10:E78.6 {source="ORDO:31154/attributed", source="ORDO:31154/ntbt", source="Orphanet:31154"}
xref: MESH:D006995 {source="MONDO:equivalentTo", source="ORDO:31154/e", source="DOID:1390", source="Orphanet:31154"}
xref: Orphanet:31154 {source="MONDO:equivalentTo"}
xref: SCTID:190786004 {source="MONDO:equivalentTo", source="DOID:1390", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0020597 {source="MONDO:equivalentTo", source="ORDO:31154/e", source="DOID:1390", source="Orphanet:31154"}
is_a: MONDO:0001822 {source="DOID:1390", source="MESH:D006995"} ! hypolipoproteinemia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015904"} ! rare
property_value: exactMatch DOID:1390
property_value: exactMatch http://identifiers.org/mesh/D006995
property_value: exactMatch http://identifiers.org/snomedct/190786004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020597
property_value: exactMatch Orphanet:31154

[Term]
id: MONDO:0017775
name: melioidosis
def: "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." [NCIT:C128336]
subset: gard_rare {source="GARD:0009546"}
subset: ordo_disease {source="Orphanet:31202"}
synonym: "acute and fulminating melioidosis" EXACT [DOID:5052]
synonym: "B pseudomallei infection" RELATED [GARD:0009546]
synonym: "Burkholderia pseudomallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia pseudomallei disease or disorder" EXACT []
synonym: "Burkholderia pseudomallei infection" RELATED [GARD:0009546]
synonym: "Burkholderia pseudomallei infectious disease" EXACT []
synonym: "Nightcliff gardener's disease" EXACT [DOID:5052]
synonym: "pseudoglanders" EXACT [DOID:5052, MTHICD9_2006:025]
synonym: "subacute and chronic melioidosis" EXACT [DOID:5052]
synonym: "Whitmore disease" RELATED [GARD:0009546]
synonym: "Whitmore's disease" EXACT [DOID:5052]
xref: DOID:5052 {source="MONDO:equivalentTo"}
xref: GARD:0009546 {source="MONDO:equivalentTo"}
xref: ICD10:A24.1 {source="Orphanet:31202", source="ORDO:31202/btnt"}
xref: ICD10:A24.2 {source="Orphanet:31202", source="ORDO:31202/btnt"}
xref: ICD10:A24.3 {source="Orphanet:31202", source="ORDO:31202/btnt"}
xref: ICD10:A24.4 {source="Orphanet:31202", source="ORDO:31202/btnt"}
xref: ICD10:A24.9 {source="DOID:5052"}
xref: ICD9:025 {source="DOID:5052"}
xref: MedDRA:10069748 {source="Orphanet:31202", source="ORDO:31202/e"}
xref: MESH:D008554 {source="Orphanet:31202", source="MONDO:equivalentTo", source="DOID:5052", source="MONDO:ontobio", source="ORDO:31202/e"}
xref: NCIT:C128336 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:31202 {source="MONDO:equivalentTo"}
xref: SCTID:186312003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.36"}
xref: UMLS:C0025229 {source="Orphanet:31202", source="MONDO:equivalentTo", source="NCIT:C128336", source="DOID:5052", source="ORDO:31202/e"}
xref: UMLS:C0348970 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0348971 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
is_a: MONDO:0000314 {source="DOID:5052"} ! primary bacterial infectious disease
is_a: MONDO:0043953 ! burkholderia infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187306003
property_value: closeMatch http://identifiers.org/snomedct/34458001
property_value: closeMatch http://identifiers.org/snomedct/428111003
property_value: exactMatch DOID:5052
property_value: exactMatch http://identifiers.org/meddra/10069748
property_value: exactMatch http://identifiers.org/mesh/D008554
property_value: exactMatch http://identifiers.org/snomedct/186312003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348971
property_value: exactMatch NCIT:C128336
property_value: exactMatch Orphanet:31202
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9546/melioidosis xsd:anyURI {source="GARD:0009546"}

[Term]
id: MONDO:0017776
name: nocardiosis
def: "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." [Orphanet:31204]
subset: gard_rare {source="GARD:0007210"}
subset: ordo_disease {source="Orphanet:31204"}
synonym: "lung nocardiosis" RELATED [GARD:0007210]
synonym: "Nocardia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nocardia disease or disorder" EXACT []
synonym: "Nocardia infection" RELATED [GARD:0007210]
synonym: "Nocardia infectious disease" EXACT [DOID:2312]
xref: DOID:2312 {source="MONDO:equivalentTo", source="EFO:0007397"}
xref: EFO:0007397 {source="MONDO:equivalentTo"}
xref: GARD:0007210 {source="MONDO:equivalentTo"}
xref: ICD10:A43 {source="DOID:2312", source="MONDO:equivalentTo"}
xref: ICD10:A43.0 {source="Orphanet:31204", source="ORDO:31204/btnt"}
xref: ICD10:A43.1 {source="Orphanet:31204", source="ORDO:31204/btnt"}
xref: ICD10:A43.8 {source="Orphanet:31204", source="ORDO:31204/btnt"}
xref: ICD10:A43.9 {source="DOID:2312", source="Orphanet:31204", source="ORDO:31204/btnt"}
xref: MedDRA:10029444 {source="ORDO:31204/e", source="Orphanet:31204"}
xref: MESH:D009617 {source="DOID:2312", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007397"}
xref: Orphanet:31204 {source="MONDO:equivalentTo"}
xref: SCTID:29227009 {source="DOID:2312", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0000316 {source="DOID:2312"} ! opportunistic bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186404005
property_value: closeMatch http://identifiers.org/snomedct/187337003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028242
property_value: exactMatch DOID:2312
property_value: exactMatch http://identifiers.org/meddra/10029444
property_value: exactMatch http://identifiers.org/mesh/C536125
property_value: exactMatch http://identifiers.org/mesh/D009617
property_value: exactMatch http://identifiers.org/snomedct/29227009
property_value: exactMatch Orphanet:31204
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7210/nocardiosis xsd:anyURI {source="GARD:0007210"}

[Term]
id: MONDO:0017777
name: obsolete rat-bite fever
is_obsolete: true
replaced_by: MONDO:0006941

[Term]
id: MONDO:0017778
name: lamellar ichthyosis
def: "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." [Orphanet:313]
subset: ordo_disease {source="Orphanet:313"}
synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313]
synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313]
synonym: "LI" EXACT [Orphanet:313]
xref: GARD:0010803 {source="MONDO:equivalentTo"}
xref: ICD10:Q80.2 {source="Orphanet:313", source="ORDO:313/specific", source="ORDO:313/e"}
xref: MedDRA:10023686 {source="Orphanet:313", source="ORDO:313/e"}
xref: MESH:D017490 {source="Orphanet:313", source="MONDO:equivalentTo", source="ORDO:313/e"}
xref: NCIT:C84805 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:313 {source="MONDO:equivalentTo"}
is_a: MONDO:0019269 {source="MESH:D017490/inferred", source="NCIT:C84805", source="Orphanet:313/inferred"} ! ichthyosis (disease)
is_a: MONDO:0020162 {source="Orphanet:313"} ! secondary ectropion
is_a: MONDO:0020268 {source="Orphanet:313"} ! ichthyosis associated with ocular features
property_value: exactMatch http://identifiers.org/meddra/10023686
property_value: exactMatch http://identifiers.org/mesh/D017490
property_value: exactMatch NCIT:C84805
property_value: exactMatch Orphanet:313

[Term]
id: MONDO:0017779
name: alpha-N-acetylgalactosaminidase deficiency
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." [Orphanet:3137]
subset: ordo_disease {source="Orphanet:3137"}
synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of alpha-N-acetylgalactosaminidase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "NAGA deficiency" EXACT [Orphanet:3137]
synonym: "Schindler disease" EXACT [Orphanet:3137]
xref: ICD10:E77.1 {source="Orphanet:3137", source="ORDO:3137/attributed", source="ORDO:3137/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:3137 {source="MONDO:equivalentTo"}
xref: SCTID:238048001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016397 {source="Orphanet:3137"} ! lysosomal disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:3137"} ! neurometabolic disease
is_a: MONDO:0019251 {source="Orphanet:3137"} ! oligosaccharidosis
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836544
property_value: exactMatch http://identifiers.org/snomedct/238048001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342850
property_value: exactMatch Orphanet:3137

[Term]
id: MONDO:0017780
name: 20p13 microdeletion syndrome
def: "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." [Orphanet:313781]
subset: ordo_malformation_syndrome {source="Orphanet:313781"}
synonym: "20p subtelomeric deletion syndrome" EXACT [Orphanet:313781]
synonym: "Del(20)(p13)" EXACT [Orphanet:313781]
synonym: "monosomy 20p13" EXACT [Orphanet:313781]
xref: ICD10:Q93.5 {source="Orphanet:313781", source="ORDO:313781/attributed", source="ORDO:313781/ntbt"}
xref: Orphanet:313781 {source="MONDO:equivalentTo"}
xref: UMLS:CN203720 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:313781", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:313781"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016898 {source="MONDOLEX:0017780", source="Orphanet:313781"} ! partial monosomy of the short arm of chromosome 20
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203720
property_value: exactMatch Orphanet:313781

[Term]
id: MONDO:0017781
name: 12p12.1 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:313884"}
synonym: "Del(12)(p12.1)" EXACT [Orphanet:313884]
synonym: "monosomy 12p12.1" EXACT [Orphanet:313884]
xref: ICD10:Q93.5 {source="Orphanet:313884", source="ORDO:313884/attributed", source="ORDO:313884/ntbt"}
xref: Orphanet:313884 {source="MONDO:equivalentTo"}
xref: UMLS:CN203731 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017848 {source="Orphanet:313884"} ! partial deletion of the short arm of chromosome 12
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203731
property_value: exactMatch Orphanet:313884

[Term]
id: MONDO:0017782
name: developmental and speech delay due to SOX5 deficiency
def: "Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." [Orphanet:313892]
subset: ordo_disease {source="Orphanet:313892"}
xref: Orphanet:313892 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:313892"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch Orphanet:313892

[Term]
id: MONDO:0017783
name: congenital pancreatic cyst
subset: ordo_morphological_anomaly {source="Orphanet:313906"}
synonym: "neonatal congenital pancreatic cyst" EXACT [Orphanet:313906]
synonym: "true congenital pancreatic cyst" EXACT [Orphanet:313906]
xref: ICD10:Q45.2 {source="MONDO:equivalentTo", source="ORDO:313906/e", source="Orphanet:313906"}
xref: Orphanet:313906 {source="MONDO:equivalentTo"}
xref: SCTID:204808002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002356 {source="Orphanet:313906"} ! pancreas disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/204808002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341480
property_value: exactMatch Orphanet:313906

[Term]
id: MONDO:0017784
name: Epstein-Barr virus-associated gastric carcinoma
def: "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." [Orphanet:313920]
subset: ordo_disease {source="Orphanet:313920"}
synonym: "EBV-associated gastric carcinoma" EXACT [Orphanet:313920]
synonym: "EBVaGC" EXACT [Orphanet:313920]
xref: ICD10:C16.0 {source="Orphanet:313920", source="ORDO:313920/ntbt"}
xref: ICD10:C16.2 {source="Orphanet:313920", source="ORDO:313920/ntbt"}
xref: Orphanet:313920 {source="MONDO:equivalentTo"}
xref: SCTID:716586009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:CN203734 {source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="Orphanet:313920"} ! gastric carcinoma
is_a: MONDO:0017344 {source="Orphanet:313920"} ! Epstein-Barr virus-associated carcinoma
property_value: exactMatch http://identifiers.org/snomedct/716586009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203734
property_value: exactMatch Orphanet:313920

[Term]
id: MONDO:0017785
name: PENS syndrome
def: "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." [Orphanet:313936]
subset: ordo_disease {source="Orphanet:313936"}
synonym: "papular epidermal nevi with skyline basal cell layers syndrome" EXACT [Orphanet:313936]
xref: Orphanet:313936 {source="MONDO:equivalentTo"}
xref: UMLS:CN203735 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:313936"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:313936", source="indirect"} ! inherited skin tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203735
property_value: exactMatch Orphanet:313936

[Term]
id: MONDO:0017786
name: 2q23.1 microduplication syndrome
def: "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." [Orphanet:313947]
subset: ordo_malformation_syndrome {source="Orphanet:313947"}
synonym: "dup(2)(q23.1)" EXACT [Orphanet:313947]
synonym: "trisomy 2q23.1" EXACT [Orphanet:313947]
xref: ICD10:Q92.3 {source="ORDO:313947/attributed", source="ORDO:313947/ntbt", source="Orphanet:313947"}
xref: Orphanet:313947 {source="MONDO:equivalentTo"}
xref: SCTID:766816008 {source="MONDO:equivalentTo"}
xref: UMLS:CN203736 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:313947"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016953 {source="MONDOLEX:0017786", source="Orphanet:313947"} ! partial duplication of the long arm of chromosome 2
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/766816008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203736
property_value: exactMatch Orphanet:313947

[Term]
id: MONDO:0017787
name: erythroderma desquamativum
subset: gard_rare
subset: ordo_disease {source="Orphanet:314"}
synonym: "erythroderma desquamativa of Leiner" RELATED [GARD:0002191]
synonym: "erythroderma desquamativum of infancy" RELATED [GARD:0002191, MESH:C535512]
synonym: "generalized erythroderma, diarrhea, and failure to thrive" RELATED [GARD:0002191, MESH:C535512]
synonym: "Leiner disease" EXACT [Orphanet:314]
synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512]
xref: GARD:0002191 {source="MONDO:equivalentTo"}
xref: HGNC:1331 {source="editor note - check this", source="GARD:0002191"}
xref: ICD10:L21.1 {source="Orphanet:314", source="ORDO:314/index", source="ORDO:314/ntbt"}
xref: MESH:C535512 {source="MONDO:equivalentTo"}
xref: Orphanet:314 {source="MONDO:equivalentTo"}
xref: UMLS:CN203737 {source="MONDO:equivalentTo"}
is_a: MONDO:0019305 {source="Orphanet:314"} ! immune deficiency with skin involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930920
property_value: exactMatch http://identifiers.org/mesh/C535512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203737
property_value: exactMatch Orphanet:314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner xsd:anyURI {source="GARD:0002191"}

[Term]
id: MONDO:0017788
name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
subset: ordo_malformation_syndrome {source="Orphanet:314002"}
synonym: "Dinno syndrome" EXACT [Orphanet:314002]
xref: Orphanet:314002 {source="MONDO:equivalentTo"}
xref: UMLS:CN203738 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0043008 {source="Orphanet:314002"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203738
property_value: exactMatch Orphanet:314002

[Term]
id: MONDO:0017789
name: idiopathic linear interstitial keratitis
def: "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." [Orphanet:314017]
subset: ordo_disease {source="Orphanet:314017"}
xref: ICD10:H16.3 {source="Orphanet:314017", source="ORDO:314017/ntbt"}
xref: Orphanet:314017 {source="MONDO:equivalentTo"}
is_a: MONDO:0015937 {source="Orphanet:314017"} ! rare inflammatory eye disease
property_value: exactMatch Orphanet:314017

[Term]
id: MONDO:0017790
name: gastric adenocarcinoma and proximal polyposis of the stomach
def: "Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis." [Orphanet:314022]
subset: ordo_disease {source="Orphanet:314022"}
synonym: "familial fundic gland polyposis with gastric cancer" EXACT [Orphanet:314022]
synonym: "GAPPS" EXACT [Orphanet:314022]
xref: Orphanet:314022 {source="MONDO:equivalentTo"}
xref: UMLS:CN203740 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018502 {source="Orphanet:314022"} ! hereditary gastric cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203740
property_value: exactMatch Orphanet:314022

[Term]
id: MONDO:0017791
name: high bone mass osteogenesis imperfecta
subset: ordo_disease {source="Orphanet:314029"}
synonym: "high bone mass OI" EXACT [Orphanet:314029]
xref: ICD10:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="ORDO:314029/attributed", source="ORDO:314029/ntbt"}
xref: Orphanet:314029 {source="MONDO:equivalentTo"}
xref: UMLS:CN203741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019703 {source="Orphanet:314029"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203741
property_value: exactMatch Orphanet:314029

[Term]
id: MONDO:0017792
name: 7p22.1 microduplication syndrome
def: "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." [Orphanet:314034]
subset: ordo_malformation_syndrome {source="Orphanet:314034"}
synonym: "dup(7)(p22.1)" EXACT [Orphanet:314034]
synonym: "trisomy 7p22.1" EXACT [Orphanet:314034]
xref: ICD10:Q92.3 {source="Orphanet:314034", source="ORDO:314034/attributed", source="ORDO:314034/ntbt"}
xref: Orphanet:314034 {source="MONDO:equivalentTo"}
xref: SCTID:764703002 {source="MONDO:equivalentTo"}
xref: UMLS:CN203742 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:314034", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:314034"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016944 {source="MONDOLEX:0017792", source="Orphanet:314034"} ! partial duplication of the short arm of chromosome 7
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/764703002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203742
property_value: exactMatch Orphanet:314034

[Term]
id: MONDO:0017793
name: marfanoid habitus-inguinal hernia-advanced bone age syndrome
subset: ordo_malformation_syndrome {source="Orphanet:314041"}
xref: Orphanet:314041 {source="MONDO:equivalentTo"}
xref: UMLS:CN203743 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015332 {source="Orphanet:314041"} ! rare developmental defect with connective tissue involvement
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203743
property_value: exactMatch Orphanet:314041

[Term]
id: MONDO:0017794
name: Xq12-q13.3 duplication syndrome
def: "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." [Orphanet:314389]
subset: ordo_malformation_syndrome {source="Orphanet:314389"}
synonym: "dup(X)(q12-q13.3)" EXACT [Orphanet:314389]
xref: ICD10:Q99.8 {source="Orphanet:314389", source="ORDO:314389/attributed", source="ORDO:314389/ntbt"}
xref: Orphanet:314389 {source="MONDO:equivalentTo"}
xref: SCTID:764711007 {source="MONDO:equivalentTo"}
xref: UMLS:CN203749 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017010 {source="Orphanet:314389"} ! partial duplication of the long arm of chromosome X
property_value: exactMatch http://identifiers.org/snomedct/764711007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203749
property_value: exactMatch Orphanet:314389

[Term]
id: MONDO:0017795
name: ameloblastoma
def: "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." [NCIT:C4313]
subset: gard_rare
subset: ordo_disease {source="Orphanet:314419"}
synonym: "adamantinoma" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Adamantinoma]
synonym: "Adenoameloblastoma" RELATED [GARD:0005747]
synonym: "adenomatoid odontogenic tumor" RELATED [GARD:0005747]
synonym: "ameloblastoma" EXACT [NCIT:C4313]
synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419]
synonym: "aot" RELATED [GARD:0005747]
xref: DOID:0050894 {source="MONDO:equivalentTo"}
xref: GARD:0005747 {source="MONDO:equivalentTo"}
xref: ICD10:C41.1 {source="ORDO:314419/ntbt", source="Orphanet:314419"}
xref: ICDO:9310/0 {source="NCIT:C4313"}
xref: MedDRA:10066796 {source="ORDO:314419/e", source="Orphanet:314419"}
xref: MESH:D000564 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C4313 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:314419 {source="MONDO:equivalentTo"}
xref: SCTID:285311001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002448 {source="MONDO:equivalentTo", source="ORDO:314419/e", source="NCIT:C4313", source="Orphanet:314419"}
xref: UMLS:C0563212 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0021192 {source="MESH:D000564", source="MONDO:Redundant", source="NCIT:C4313", source="Orphanet:314419", source="indirect"} ! odontogenic neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017797"} ! rare
property_value: exactMatch DOID:0050894
property_value: exactMatch http://identifiers.org/meddra/10066796
property_value: exactMatch http://identifiers.org/mesh/D000564
property_value: exactMatch http://identifiers.org/snomedct/285311001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002448
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0563212
property_value: exactMatch NCIT:C4313
property_value: exactMatch Orphanet:314419

[Term]
id: MONDO:0017796
name: obsolete ameloblastic carcinoma
is_obsolete: true
replaced_by: MONDO:0006079

[Term]
id: MONDO:0017797
name: obsolete rare odontologic tumor
def: "Any of the forms of odontogenic neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:314425"}
synonym: "rare odontogenic neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare odontogenic tumor" RELATED [Orphanet:314425]
xref: Orphanet:314425 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN203756 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203756
property_value: exactMatch Orphanet:314425
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021192

[Term]
id: MONDO:0017798
name: Spigelian hernia-cryptorchidism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:314432"}
xref: ICD10:K43.6 {source="ORDO:314432/ntbt", source="Orphanet:314432"}
xref: Orphanet:314432 {source="MONDO:equivalentTo"}
xref: UMLS:CN203757 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015216 {source="Orphanet:314432"} ! syndromic diaphragmatic or abdominal wall malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203757
property_value: exactMatch Orphanet:314432

[Term]
id: MONDO:0017799
name: Meigs syndrome
def: "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." [NCIT:C3223]
subset: ordo_clinical_syndrome {source="Orphanet:314451"}
synonym: "Demons-Meigs syndrome" EXACT [Orphanet:314451]
synonym: "Meigs' syndrome" EXACT [NCIT:C3223]
xref: ICD10:D27 {source="ORDO:314451/ntbt", source="Orphanet:314451"}
xref: ICD9:629.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10027139 {source="ORDO:314451/e", source="Orphanet:314451"}
xref: MESH:D008539 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3223 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:314451 {source="MONDO:equivalentTo"}
xref: SCTID:63402005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.37"}
xref: UMLS:C0025184 {source="MONDO:equivalentTo", source="NCIT:C3223", source="ORDO:314451/e", source="Orphanet:314451"}
is_a: MONDO:0000646 {source="Orphanet:314451"} ! ovarian benign neoplasm
is_a: MONDO:0021058 {source="NCIT:C3223"} ! neoplastic syndrome
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/meddra/10027139
property_value: exactMatch http://identifiers.org/mesh/D008539
property_value: exactMatch http://identifiers.org/snomedct/63402005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025184
property_value: exactMatch NCIT:C3223
property_value: exactMatch Orphanet:314451

[Term]
id: MONDO:0017800
name: pseudo-Meigs syndrome
subset: ordo_clinical_syndrome {source="Orphanet:314459"}
synonym: "pseudo-Demons-Meigs syndrome" EXACT [Orphanet:314459]
xref: ICD10:D27 {source="Orphanet:314459", source="ORDO:314459/ntbt"}
xref: Orphanet:314459 {source="MONDO:equivalentTo"}
xref: UMLS:CN203759 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000646 {source="Orphanet:314459"} ! ovarian benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203759
property_value: exactMatch Orphanet:314459

[Term]
id: MONDO:0017801
name: atypical Meigs syndrome
subset: ordo_clinical_syndrome {source="Orphanet:314466"}
synonym: "atypical Demons-Meigs syndrome" EXACT [Orphanet:314466]
synonym: "incomplete Meigs syndrome" EXACT [Orphanet:314466]
xref: ICD10:D27 {source="Orphanet:314466", source="ORDO:314466/ntbt"}
xref: Orphanet:314466 {source="MONDO:equivalentTo"}
xref: UMLS:CN203760 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000646 {source="Orphanet:314466"} ! ovarian benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203760
property_value: exactMatch Orphanet:314466

[Term]
id: MONDO:0017802
name: ovarian fibrothecoma
def: "10cm) are often associated with pleural effusion and ascytes (the Meig's syndrome triad)." [Orphanet:314478]
subset: ordo_disease {source="Orphanet:314478"}
xref: ICD10:D27 {source="Orphanet:314478", source="ORDO:314478/ntbt"}
xref: Orphanet:314478 {source="MONDO:equivalentTo"}
xref: SCTID:765190005 {source="MONDO:equivalentTo"}
xref: UMLS:CN203762 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000646 {source="Orphanet:314478"} ! ovarian benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/765190005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203762
property_value: exactMatch Orphanet:314478

[Term]
id: MONDO:0017803
name: primary progressive apraxia of speech
subset: ordo_disease {source="Orphanet:314566"}
synonym: "PPAOS" EXACT [Orphanet:314566]
xref: Orphanet:314566 {source="MONDO:equivalentTo"}
xref: UMLS:CN203766 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005559 {source="Orphanet:314566"} ! neurodegenerative disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015918"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203766
property_value: exactMatch Orphanet:314566

[Term]
id: MONDO:0017804
name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
def: "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." [Orphanet:314572]
subset: ordo_disease {source="Orphanet:314572"}
xref: Orphanet:314572 {source="MONDO:equivalentTo"}
xref: UMLS:CN203767 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018787 {source="Orphanet:314572"} ! genetic cerebral small vessel disease
is_a: MONDO:0020240 {source="Orphanet:314572"} ! syndromic retinitis pigmentosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203767
property_value: exactMatch Orphanet:314572

[Term]
id: MONDO:0017805
name: intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:314575"}
xref: Orphanet:314575 {source="MONDO:equivalentTo"}
xref: UMLS:CN203768 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:314575", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0001560 {source="MONDO:cjm"} ! hypertrophic pyloric stenosis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:314575"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203768
property_value: exactMatch Orphanet:314575

[Term]
id: MONDO:0017806
name: 15q overgrowth syndrome
def: "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." [Orphanet:314585]
subset: ordo_malformation_syndrome {source="Orphanet:314585"}
xref: ICD10:Q87.3 {source="ORDO:314585/attributed", source="ORDO:314585/ntbt", source="Orphanet:314585"}
xref: Orphanet:314585 {source="MONDO:equivalentTo"}
xref: UMLS:CN203769 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314585", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:314585"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016965 {source="Orphanet:314585"} ! partial duplication of the long arm of chromosome 15
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019717 {source="Orphanet:314585"} ! chromosomal disease with overgrowth
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:314585"} ! chromosomal anomaly with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203769
property_value: exactMatch Orphanet:314585

[Term]
id: MONDO:0017807
name: growing teratoma syndrome
def: "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." [NCIT:C118370]
subset: ordo_clinical_situation {source="Orphanet:314613"}
synonym: "GTS" EXACT [NCIT:C118370]
xref: NCIT:C118370 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.85/1.91"}
xref: Orphanet:314613 {source="MONDO:equivalentTo"}
xref: UMLS:C3891714 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C118370"}
xref: UMLS:CN203773 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021058 {source="NCIT:C118370"} ! neoplastic syndrome
relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:314613"} ! extragonadal non-dysgerminomatous germ cell tumor
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3891714
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203773
property_value: exactMatch NCIT:C118370
property_value: exactMatch Orphanet:314613

[Term]
id: MONDO:0017808
name: duplication of the pituitary gland
subset: ordo_morphological_anomaly {source="Orphanet:314621"}
synonym: "DPG-plus syndrome" EXACT [Orphanet:314621]
synonym: "Duplication of the pituitary gland-plus syndrome" EXACT [Orphanet:314621]
synonym: "hypophyseal duplication" EXACT [Orphanet:314621]
xref: ICD10:Q89.2 {source="Orphanet:314621", source="ORDO:314621/attributed", source="ORDO:314621/ntbt"}
xref: Orphanet:314621 {source="MONDO:equivalentTo"}
xref: UMLS:CN203774 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015889 {source="Orphanet:314621"} ! rare hypothalamic or pituitary disease
is_a: MONDO:0017090 {source="Orphanet:314621"} ! midline cerebral malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203774
property_value: exactMatch Orphanet:314621

[Term]
id: MONDO:0017809
name: parkinsonism due to ATP13A2 deficiency
subset: ordo_disease {source="Orphanet:314632"}
synonym: "CLN12 disease" EXACT [Orphanet:314632]
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="Orphanet:314632", source="ORDO:314632/attributed", source="ORDO:314632/ntbt"}
xref: Orphanet:314632 {source="MONDO:equivalentTo"}
xref: UMLS:CN203776 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011706 ! Kufor-Rakeb syndrome
is_a: MONDO:0016295 {source="Orphanet:314632"} ! neuronal ceroid lipofuscinosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203776
property_value: exactMatch Orphanet:314632

[Term]
id: MONDO:0017810
name: variant ABeta2M amyloidosis
def: "#946;2M) leading to progressive gastrointestinal dysfunction, SjC6gren syndrome (see this term) and autonomic neuropathy." [Orphanet:314652]
subset: ordo_disease {source="Orphanet:314652"}
synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652]
xref: ICD10:E85.1 {source="ORDO:314652/attributed", source="ORDO:314652/ntbt", source="Orphanet:314652"}
xref: Orphanet:314652 {source="MONDO:equivalentTo"}
xref: SCTID:722292000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4302669 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN203779 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018590 {source="MONDOLEX:0017810", source="Orphanet:314652"} ! ABeta2M amyloidosis
is_a: MONDO:0018634 {source="Orphanet:314652"} ! hereditary amyloidosis
property_value: exactMatch http://identifiers.org/snomedct/722292000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203779
property_value: exactMatch Orphanet:314652

[Term]
id: MONDO:0017811
name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
subset: ordo_clinical_subtype {source="Orphanet:314655"}
synonym: "5q31.3 microdeletion syndrome" EXACT [Orphanet:314655]
synonym: "Del(5)(q31.3)" EXACT [Orphanet:314655]
synonym: "monosomy 5q31.3" EXACT [Orphanet:314655]
xref: ICD10:Q93.5 {source="Orphanet:314655", source="ORDO:314655/attributed", source="ORDO:314655/ntbt"}
xref: Orphanet:314655 {source="MONDO:equivalentTo"}
xref: SCTID:768555009 {source="MONDO:equivalentTo"}
xref: UMLS:CN203780 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016904 {source="Orphanet:314655"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0018580 {source="Orphanet:314655"} ! PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/768555009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203780
property_value: exactMatch Orphanet:314655

[Term]
id: MONDO:0017812
name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia
subset: ordo_disease {source="Orphanet:314662"}
xref: Orphanet:314662 {source="MONDO:equivalentTo"}
xref: UMLS:CN203781 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019716 {source="Orphanet:314662"} ! overgrowth syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203781
property_value: exactMatch Orphanet:314662

[Term]
id: MONDO:0017813
name: van Maldergem syndrome
def: "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." [Orphanet:314679]
subset: ordo_malformation_syndrome {source="Orphanet:314679"}
synonym: "cerebro-facio-articular syndrome" EXACT [DOID:0060238]
synonym: "cerebro-facio-articular syndrome of Van Maldergem" RELATED [GARD:0005456]
synonym: "Van Maldergem syndrome" EXACT [Orphanet:314679]
synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456]
xref: DOID:0060238 {source="MONDO:equivalentTo"}
xref: GARD:0005456 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: OMIMPS:601390 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:314679 {source="MONDO:equivalentTo", source="DOID:0060238"}
xref: UMLS:CN203783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:314679", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:314679"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: closeMatch http://identifiers.org/mesh/C536530
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832390
property_value: exactMatch DOID:0060238
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203783
property_value: exactMatch Orphanet:314679

[Term]
id: MONDO:0017814
name: primary bone lymphoma
alt_id: MONDO:0003986
def: "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." [NCIT:C6620]
subset: ordo_disease {source="Orphanet:314684"}
synonym: "bone lymphoma" RELATED [DOID:6759]
synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of bone" EXACT [DOID:6759]
synonym: "lymphoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "lymphoma of the bone" EXACT [DOID:6759]
synonym: "primary lymphoma of bone" EXACT [NCIT:C6620]
synonym: "primary lymphoma of the bone" EXACT [NCIT:C6620]
xref: DOID:6759 {source="MONDO:equivalentTo"}
xref: ICD10:C85\,7 {source="Orphanet:314684"}
xref: ICD10:C85.7 {source="ORDO:314684/ntbt", source="Orphanet:314684"}
xref: NCIT:C6620 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo", source="DOID:6759"}
xref: Orphanet:314684 {source="MONDO:equivalentTo"}
xref: SCTID:766935007 {source="MONDO:equivalentTo"}
xref: UMLS:C1332582 {source="MONDO:equivalentTo", source="NCIT:C6620", source="DOID:6759", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002129 {source="NCIT:C6620"} ! bone cancer
is_a: MONDO:0017207 {source="Orphanet:314684"} ! primary organ-specific lymphoma
relationship: excluded_subClassOf MONDO:0002129 {source="DOID:6759"} ! bone cancer
property_value: exactMatch DOID:6759
property_value: exactMatch http://identifiers.org/snomedct/766935007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332582
property_value: exactMatch NCIT:C6620
property_value: exactMatch Orphanet:314684

[Term]
id: MONDO:0017815
name: acquired porencephaly
def: "An instance of porencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_etiological_subtype {source="Orphanet:314697"}
synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired]
xref: ICD10:G93.0 {source="Orphanet:314697", source="ORDO:314697/inclusion", source="ORDO:314697/ntbt"}
xref: Orphanet:314697 {source="MONDO:equivalentTo"}
xref: SCTID:38837006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.81"}
xref: UMLS:C0151860 {source="Orphanet:314697", source="MONDO:equivalentTo", source="ORDO:314697/e"}
is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:314697"} ! porencephaly
intersection_of: MONDO:0017410 ! porencephaly
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/38837006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151860
property_value: exactMatch Orphanet:314697

[Term]
id: MONDO:0017816
name: primary systemic amyloidosis
def: "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement." [Orphanet:314701]
subset: ordo_clinical_subtype {source="Orphanet:314701"}
synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701]
synonym: "systemic amyloidosis" EXACT [NCIT:C8299]
synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299]
xref: ICD10:E85.0 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"}
xref: ICD10:E85.1 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"}
xref: ICD10:E85.2 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"}
xref: ICD10:E85.3 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"}
xref: NCIT:C8299 {source="MONDO:kboom-pr-0.91/0.79/0.23", source="MONDO:equivalentTo"}
xref: Orphanet:314701 {source="MONDO:equivalentTo"}
xref: SCTID:89449005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268380 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C8299", source="MONDO:equivalentTo"}
xref: UMLS:C0281479 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019438 {source="MONDOLEX:0017816", source="Orphanet:314701"} ! AL amyloidosis
property_value: exactMatch http://identifiers.org/snomedct/89449005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281479
property_value: exactMatch NCIT:C8299
property_value: exactMatch Orphanet:314701

[Term]
id: MONDO:0017817
name: primary localized amyloidosis
def: "Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709]
subset: ordo_clinical_subtype {source="Orphanet:314709"}
synonym: "localized AL amyloidosis" EXACT [Orphanet:314709]
xref: ICD10:E85.4 {source="ORDO:314709/e", source="ORDO:314709/specific", source="Orphanet:314709"}
xref: Orphanet:314709 {source="MONDO:equivalentTo"}
is_a: MONDO:0019438 {source="MONDOLEX:0017817", source="Orphanet:314709"} ! AL amyloidosis
property_value: exactMatch Orphanet:314709

[Term]
id: MONDO:0017818
name: lethal arteriopathy syndrome due to fibulin-4 deficiency
subset: ordo_disease {source="Orphanet:314718"}
xref: Orphanet:314718 {source="MONDO:equivalentTo"}
xref: UMLS:CN203788 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="Orphanet:314718", source="Orphanet:314718/inferred"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203788
property_value: exactMatch Orphanet:314718

[Term]
id: MONDO:0017819
name: atypical dentin dysplasia due to SMOC2 deficiency
subset: ordo_clinical_subtype {source="Orphanet:314721"}
synonym: "dentin dysplasia type 1 with microdontia and shape anomalies" EXACT [Orphanet:314721]
xref: ICD10:K00.5 {source="Orphanet:314721", source="ORDO:314721/attributed", source="ORDO:314721/ntbt"}
xref: Orphanet:314721 {source="MONDO:equivalentTo"}
xref: UMLS:CN203789 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007436 ! dentin dysplasia type I
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203789
property_value: exactMatch Orphanet:314721

[Term]
id: MONDO:0017820
name: disease with Cushing syndrome as a major feature
def: "A disease in which Cushing syndrome is a major feature." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:314749"}
synonym: "rare disease with Cushing syndrome as a major feature" EXACT [Orphanet:314749]
xref: Orphanet:314749 {source="MONDO:equivalentTo"}
xref: UMLS:CN203791 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018912 {source="MONDOLEX:0017820", source="Orphanet:314749"} ! Cushing syndrome
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_has_major_feature MONDO:0018912 ! Cushing syndrome
relationship: disease_has_major_feature MONDO:0018912 ! Cushing syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203791
property_value: exactMatch Orphanet:314749
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0017821
name: obsolete functioning pituitary adenoma
is_obsolete: true
replaced_by: MONDO:0003429

[Term]
id: MONDO:0017822
name: mixed functioning pituitary adenoma
subset: ordo_group_of_disorders {source="Orphanet:314759"}
synonym: "mixed secreting pituitary adenoma" EXACT [Orphanet:314759]
xref: Orphanet:314759 {source="MONDO:equivalentTo"}
xref: SCTID:254961003 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C0346305 {source="MONDO:equivalentTo", source="Orphanet:314759", source="ORDO:314759/e"}
is_a: MONDO:0003429 {source="MONDOLEX:0017822", source="Orphanet:314759"} ! functioning pituitary gland adenoma
property_value: exactMatch http://identifiers.org/snomedct/254961003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346305
property_value: exactMatch Orphanet:314759

[Term]
id: MONDO:0017823
name: somatomammotropinoma
subset: ordo_disease {source="Orphanet:314769"}
synonym: "GH and PRL cosecreting pituitary adenoma" EXACT [Orphanet:314769]
synonym: "Growth hormone and prolactin cosecreting pituitary adenoma" EXACT [Orphanet:314769]
synonym: "Somatolactotropinoma" EXACT [Orphanet:314769]
synonym: "Somatoprolactinoma" EXACT [Orphanet:314769]
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:314769/ntbt", source="Orphanet:314769"}
xref: Orphanet:314769 {source="MONDO:equivalentTo"}
xref: UMLS:CN203793 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017822 {source="Orphanet:314769"} ! mixed functioning pituitary adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203793
property_value: exactMatch Orphanet:314769

[Term]
id: MONDO:0017824
name: familial isolated pituitary adenoma
comment: Editor note: TODO check this
subset: ordo_disease {source="Orphanet:314777"}
synonym: "FIPA" EXACT [Orphanet:314777]
xref: ICD10:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="ORDO:314777/ntbt"}
xref: Orphanet:314777 {source="MONDO:equivalentTo"}
xref: SCTID:702375004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.11"}
xref: UMLS:CN239192 {source="MONDO:equivalentTo"}
xref: UMLS:CN244420 {source="MONDO:equivalentTo"}
is_a: MONDO:0006373 ! pituitary gland adenoma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0006373 ! pituitary gland adenoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863340
property_value: exactMatch http://identifiers.org/snomedct/702375004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244420
property_value: exactMatch Orphanet:314777

[Term]
id: MONDO:0017825
name: silent pituitary adenoma
subset: ordo_histopathological_subtype {source="Orphanet:314786"}
xref: ICD10:D35.2 {source="Orphanet:314786", source="MONDO:relatedTo", source="ORDO:314786/ntbt"}
xref: Orphanet:314786 {source="MONDO:equivalentTo"}
xref: UMLS:CN203795 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019613 {source="Orphanet:314786"} ! non-functioning pituitary adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203795
property_value: exactMatch Orphanet:314786

[Term]
id: MONDO:0017826
name: null pituitary adenoma
subset: ordo_histopathological_subtype {source="Orphanet:314790"}
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:314790/ntbt", source="Orphanet:314790"}
xref: Orphanet:314790 {source="MONDO:equivalentTo"}
xref: UMLS:CN203796 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019613 {source="Orphanet:314790"} ! non-functioning pituitary adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203796
property_value: exactMatch Orphanet:314790

[Term]
id: MONDO:0017827
name: malignant peripheral nerve sheath tumor
def: "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." [Orphanet:3148]
subset: ordo_disease {source="Orphanet:3148"}
synonym: "Malig. periph. nerve sheath tum." EXACT [NCIT:C3798]
synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [DOID:5940, NCIT:C3798]
synonym: "malignant neurilemmoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "malignant neurilemoma" EXACT [NCIT:C3798]
synonym: "malignant neurofibroma" EXACT [Orphanet:3148]
synonym: "malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C3798]
synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C3798]
synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:5940]
synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [DOID:5940]
synonym: "malignant peripheral nerve sheath tumour" EXACT [NCIT:C3798]
synonym: "malignant schwannoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "malignant tumor of peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "MPNST" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "neurofibrosarcoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798]
synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "schwannoma, malignant" EXACT [NCIT:C3798]
xref: DOID:5940 {source="MONDO:equivalentTo"}
xref: GARD:0010872 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C47.9 {source="Orphanet:3148", source="ORDO:3148/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9540/3 {source="NCIT:C3798"}
xref: ICDO:9560/3 {source="NCIT:C3798"}
xref: MedDRA:10029236 {source="ORDO:3148/e", source="Orphanet:3148"}
xref: NCIT:C3798 {source="DOID:5940", source="MONDO:equivalentTo"}
xref: ONCOTREE:MPNST {source="MONDO:equivalentTo"}
xref: Orphanet:3148 {source="MONDO:equivalentTo"}
xref: SCTID:404037002 {source="DOID:5940", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.11"}
xref: UMLS:C0751690 {source="DOID:5940", source="ORDO:3148/e", source="Orphanet:3148", source="MONDO:equivalentTo", source="NCIT:C3798"}
is_a: MONDO:0002547 {source="DOID:5940", source="MONDOLEX:0017827", source="NCIT:C3798", source="ONCOTREE:MPNST"} ! nerve sheath neoplasm
is_a: MONDO:0016749 {source="Orphanet:3148"} ! tumor of cranial and spinal nerves
is_a: MONDO:0018078 {source="Orphanet:3148"} ! soft tissue sarcoma
is_a: MONDO:0021089 {source="MONDO:Redundant", source="MONDOLEX:0017827", source="NCIT:C3798", source="OWLReasoner:2017"} ! peripheral nervous system cancer
property_value: closeMatch http://identifiers.org/mesh/D009442
property_value: closeMatch http://identifiers.org/snomedct/134324009
property_value: closeMatch http://identifiers.org/snomedct/189949003
property_value: closeMatch http://identifiers.org/snomedct/19897006
property_value: closeMatch http://identifiers.org/snomedct/77418004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206729
property_value: exactMatch DOID:5940
property_value: exactMatch http://identifiers.org/meddra/10029236
property_value: exactMatch http://identifiers.org/snomedct/404037002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751690
property_value: exactMatch NCIT:C3798
property_value: exactMatch Orphanet:3148

[Term]
id: MONDO:0017828
name: primary renal tubular acidosis
subset: ordo_group_of_disorders {source="Orphanet:314822"}
xref: ICD10:N25.8 {source="Orphanet:314822", source="ORDO:314822/attributed", source="ORDO:314822/ntbt"}
xref: Orphanet:314822 {source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:314822"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:314822"} ! rare renal tubular disease
property_value: exactMatch Orphanet:314822

[Term]
id: MONDO:0017829
name: autosomal dominant proximal renal tubular acidosis
def: "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." [Orphanet:314889]
subset: ordo_clinical_subtype {source="Orphanet:314889"}
synonym: "AD pRTA" EXACT [Orphanet:314889]
synonym: "proximal renal tubular acidosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:N25.8 {source="Orphanet:314889", source="ORDO:314889/attributed", source="ORDO:314889/ntbt"}
xref: Orphanet:314889 {source="MONDO:equivalentTo"}
xref: UMLS:CN203801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0008369 {source="MONDO:Redundant", source="MONDOLEX:0017829", source="Orphanet:314889"} ! proximal renal tubular acidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203801
property_value: exactMatch Orphanet:314889

[Term]
id: MONDO:0017830
name: severe Canavan disease
def: "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." [Orphanet:314911]
subset: ordo_clinical_subtype {source="Orphanet:314911"}
synonym: "infantile Canavan disease" EXACT [Orphanet:314911]
synonym: "neonatal Canavan disease" EXACT [Orphanet:314911]
xref: ICD10:E75.2 {source="Orphanet:314911", source="ORDO:314911/attributed", source="ORDO:314911/ntbt"}
xref: Orphanet:314911 {source="MONDO:equivalentTo"}
xref: UMLS:CN203803 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010079 {source="Orphanet:314911"} ! Canavan disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751664
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203803
property_value: exactMatch Orphanet:314911

[Term]
id: MONDO:0017831
name: mild Canavan disease
def: "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." [Orphanet:314918]
subset: ordo_clinical_subtype {source="Orphanet:314918"}
synonym: "juvenile Canavan disease" EXACT [Orphanet:314918]
xref: ICD10:E75.2 {source="ORDO:314918/attributed", source="ORDO:314918/ntbt", source="Orphanet:314918"}
xref: Orphanet:314918 {source="MONDO:equivalentTo"}
is_a: MONDO:0010079 {source="Orphanet:314918"} ! Canavan disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751667
property_value: exactMatch Orphanet:314918

[Term]
id: MONDO:0017832
name: mycobacterium xenopi infection
def: "A disease caused by infection with Mycobacterium xenopi." [MONDO:patterns/infectious_disease_by_agent]
subset: ordo_disease {source="Orphanet:314946"}
synonym: "M. xenopi" RELATED [GARD:0010550]
synonym: "Mycobacterium xenopi" RELATED [GARD:0010550]
synonym: "Mycobacterium xenopi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium xenopi disease or disorder" EXACT []
synonym: "Mycobacterium xenopi infectious disease" EXACT []
xref: GARD:0010550 {source="MONDO:equivalentTo"}
xref: ICD10:A31.8 {source="ORDO:314946/ntbt", source="Orphanet:314946"}
xref: Orphanet:314946 {source="MONDO:equivalentTo"}
xref: UMLS:C0275715 {source="MONDO:equivalentTo", source="Orphanet:314946", source="ORDO:314946/e"}
is_a: MONDO:0020590 ! mycobacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275715
property_value: exactMatch Orphanet:314946

[Term]
id: MONDO:0017833
name: primary hypereosinophilic syndrome
subset: ordo_disease {source="Orphanet:314950"}
synonym: "clonal hypereosinophilic syndrome" EXACT [Orphanet:314950]
synonym: "HES-M" EXACT [Orphanet:314950]
synonym: "HES-N" EXACT [Orphanet:314950]
synonym: "neoplastic hypereosinophilic syndrome" EXACT [Orphanet:314950]
synonym: "primary HES" EXACT [Orphanet:314950]
xref: ICD10:D47.5 {source="Orphanet:314950", source="ORDO:314950/ntbt"}
xref: Orphanet:314950 {source="MONDO:equivalentTo"}
xref: UMLS:CN203808 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015691 {source="MONDOLEX:0017833", source="Orphanet:314950"} ! hypereosinophilic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203808
property_value: exactMatch Orphanet:314950

[Term]
id: MONDO:0017834
name: secondary hypereosinophilic syndrome
subset: ordo_disease {source="Orphanet:314962"}
synonym: "HES-R" EXACT [Orphanet:314962]
synonym: "reactive hypereosinophilic syndrome" EXACT [Orphanet:314962]
synonym: "secondary HES" EXACT [Orphanet:314962]
xref: ICD10:D47.5 {source="Orphanet:314962", source="ORDO:314962/ntbt"}
xref: Orphanet:314962 {source="MONDO:equivalentTo"}
xref: UMLS:CN203809 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015691 {source="MONDOLEX:0017834", source="Orphanet:314962"} ! hypereosinophilic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203809
property_value: exactMatch Orphanet:314962

[Term]
id: MONDO:0017835
name: lymphocytic hypereosinophilic syndrome
subset: ordo_clinical_subtype {source="Orphanet:314970"}
synonym: "HES-L" EXACT [Orphanet:314970]
synonym: "lymphocytic variant HES" EXACT [Orphanet:314970]
synonym: "lymphoid HES" EXACT [Orphanet:314970]
xref: ICD10:D47.5 {source="ORDO:314970/ntbt", source="Orphanet:314970"}
xref: Orphanet:314970 {source="MONDO:equivalentTo"}
xref: UMLS:CN203810 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017834 {source="Orphanet:314970"} ! secondary hypereosinophilic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203810
property_value: exactMatch Orphanet:314970

[Term]
id: MONDO:0017836
name: erythrokeratoderma en cocardes
def: "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis (see this term). Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." [Orphanet:315]
subset: gard_rare
subset: ordo_disease {source="Orphanet:315"}
synonym: "Degos 'en cocarde' erythrokeratoderma" RELATED [GARD:0001722]
synonym: "Degos genodermatosis" EXACT [Orphanet:315]
synonym: "Degos genodermatosis \"en cocardes\"" EXACT [Orphanet:315]
synonym: "Degos genodermatosis 'en cocardes'" RELATED [GARD:0001722]
synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315]
synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315]
synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722]
xref: GARD:0001722 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:315", source="ORDO:315/attributed", source="ORDO:315/ntbt"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:315 {source="GARD:0001722", source="MONDO:equivalentTo"}
xref: SCTID:239062001 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:CN203813 {source="MONDO:equivalentTo"}
is_a: MONDO:0019270 {source="Orphanet:315", source="linkedlifedata"} ! erythrokeratoderma
property_value: exactMatch http://identifiers.org/snomedct/239062001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203813
property_value: exactMatch Orphanet:315
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma xsd:anyURI {source="GARD:0001722"}

[Term]
id: MONDO:0017837
name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
def: "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." [Orphanet:3151]
subset: ordo_disease {source="Orphanet:3151"}
xref: ICD10:G37.8 {source="ORDO:3151/attributed", source="ORDO:3151/ntbt", source="Orphanet:3151"}
xref: Orphanet:3151 {source="MONDO:equivalentTo"}
xref: UMLS:CN203814 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017274 {source="Orphanet:3151"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0019039 {source="Orphanet:3151"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0021181 ! inherited blood coagulation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203814
property_value: exactMatch Orphanet:3151

[Term]
id: MONDO:0017838
name: sclerosteosis
def: "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." [Orphanet:3152]
subset: ordo_malformation_syndrome {source="Orphanet:3152"}
synonym: "cortical hyperostosis with syndactyly" EXACT [NCIT:C131133]
synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152]
xref: DOID:0060251 {source="MONDO:equivalentTo"}
xref: GARD:0004771 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M85.2 {source="Orphanet:3152", source="ORDO:3152/attributed", source="ORDO:3152/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537525 {source="MONDO:equivalentTo", source="Orphanet:3152", source="ORDO:3152/e", source="DOID:0060251"}
xref: NCIT:C131133 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.70/1.91"}
xref: OMIMPS:269500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:3152 {source="MONDO:equivalentTo", source="DOID:0060251"}
xref: SCTID:17568006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060251"}
xref: UMLS:C0265301 {source="MONDO:equivalentTo", source="NCIT:C131133", source="Orphanet:3152", source="ORDO:3152/e", source="DOID:0060251"}
is_a: MONDO:0002185 {source="DOID:0060251", source="MESH:C537525"} ! hyperostosis
is_a: MONDO:0019703 {source="Orphanet:3152"} ! primary bone dysplasia with increased bone density
property_value: exactMatch DOID:0060251
property_value: exactMatch http://identifiers.org/mesh/C537525
property_value: exactMatch http://identifiers.org/snomedct/17568006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265301
property_value: exactMatch NCIT:C131133
property_value: exactMatch Orphanet:3152

[Term]
id: MONDO:0017839
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
def: "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." [Orphanet:315306]
subset: ordo_clinical_subtype {source="Orphanet:315306"}
synonym: "classic 21-OHD CAH, salt wasting form" EXACT [Orphanet:315306]
xref: ICD10:E25.0 {source="Orphanet:315306", source="ORDO:315306/attributed", source="ORDO:315306/ntbt"}
xref: Orphanet:315306 {source="MONDO:equivalentTo"}
is_a: MONDO:0008728 {source="MONDOLEX:0017839", source="Orphanet:315306"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
property_value: exactMatch Orphanet:315306

[Term]
id: MONDO:0017840
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
def: "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." [Orphanet:315311]
subset: ordo_clinical_subtype {source="Orphanet:315311"}
synonym: "classic 21-OHD CAH, simple virilizing form" EXACT [Orphanet:315311]
xref: ICD10:E25.0 {source="ORDO:315311/attributed", source="ORDO:315311/ntbt", source="Orphanet:315311"}
xref: Orphanet:315311 {source="MONDO:equivalentTo"}
is_a: MONDO:0008728 {source="MONDOLEX:0017840", source="Orphanet:315311"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
property_value: exactMatch Orphanet:315311

[Term]
id: MONDO:0017841
name: autoimmune disease with skin involvement
def: "A hypersensitivity reaction type II disease that involves the skin of body." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:315350"}
synonym: "autoimmune disease of skin and connective tissue" EXACT [MONDO:0000593]
synonym: "integument hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "skin of body hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060039 {source="MONDO:equivalentTo"}
xref: Orphanet:315350 {source="MONDO:equivalentTo"}
xref: UMLS:CN203818 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:315350"} ! skin disease
is_a: MONDO:0007179 {source="DOID:0060039", source="DOID:0060039/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: exactMatch DOID:0060039
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203818
property_value: exactMatch Orphanet:315350

[Term]
id: MONDO:0017842
name: Senior-Loken syndrome
def: "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." [Orphanet:3156]
subset: ordo_disease {source="Orphanet:3156"}
synonym: "Loken Senior syndrome" EXACT [DOID:0050576]
synonym: "nephronophthisis with retinal dystrophy" EXACT [Orphanet:3156]
synonym: "renal dysplasia retinal aplasia" RELATED [GARD:0000322]
synonym: "renal dysplasia-retinal aplasia syndrome" EXACT [Orphanet:3156]
synonym: "renal-retinal syndrome" EXACT [DOID:0050576]
synonym: "Senior Loken syndrome" RELATED [GARD:0000322]
synonym: "SLSN" EXACT [Orphanet:3156]
xref: DOID:0050576 {source="MONDO:equivalentTo"}
xref: GARD:0000322 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="ORDO:3156/attributed", source="ORDO:3156/ntbt"}
xref: MESH:C537580 {source="Orphanet:3156", source="ORDO:3156/e", source="MONDO:equivalentTo"}
xref: OMIMPS:266900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="DOID:0050576", source="MONDO:equivalentTo"}
xref: UMLS:CN117960 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:0050576", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015962 {source="Orphanet:3156"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:3156"} ! rare renal tubular disease
is_a: MONDO:0020238 {source="Orphanet:3156"} ! inherited vitreous-retinal disease
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0022410 ! retinal ciliopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403553
property_value: exactMatch DOID:0050576
property_value: exactMatch http://identifiers.org/mesh/C537580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN117960
property_value: exactMatch Orphanet:3156

[Term]
id: MONDO:0017843
name: congenital pulmonary sequestration
def: "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." [NCIT:C97124]
subset: ordo_malformation_syndrome {source="Orphanet:3161"}
synonym: "bronchopulmonary sequestration" EXACT [NCIT:C97124]
synonym: "congenital bronchopulmonary sequestration" EXACT [Orphanet:3161]
synonym: "congenital sequestration of lung" EXACT [NCIT:C97124]
synonym: "pulmonary sequestration" EXACT [GARD:0004593, NCIT:C97124]
synonym: "sequestered lobe (pulmonary sequestration)" EXACT [NCIT:C97124]
xref: GARD:0004593 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q33.2 {source="Orphanet:3161", source="ORDO:3161/e"}
xref: MESH:D001998 {source="MONDO:equivalentTo"}
xref: NCIT:C97124 {source="MONDO:equivalentTo"}
xref: Orphanet:3161 {source="MONDO:equivalentTo"}
xref: SCTID:18620009 {source="MONDO:equivalentTo"}
xref: UMLS:C4020703 {source="MONDO:equivalentTo"}
is_a: MONDO:0015221 {source="Orphanet:3161"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:3161"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/mesh/D001998
property_value: exactMatch http://identifiers.org/snomedct/18620009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4020703
property_value: exactMatch NCIT:C97124
property_value: exactMatch Orphanet:3161

[Term]
id: MONDO:0017844
name: Sezary syndrome
def: "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." [Orphanet:3162]
subset: ordo_disease {source="Orphanet:3162"}
synonym: "CTCL / Sezary syndrome" EXACT [NCIT:C3366]
synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [NCIT:C3366]
synonym: "SC)zary syndrome" EXACT [NCIT:C3366]
synonym: "Sezary disease" EXACT [DOID:8541]
synonym: "Sezary lymphoma" EXACT [Orphanet:3162]
synonym: "Sezary syndrome" EXACT [DOID:8541, MTH:U002240, NCIT:C3366]
synonym: "Sezary's disease" EXACT [MONDO:0006628, NCIT:C3366]
synonym: "Sezary's lymphoma" RELATED [GARD:0007629]
synonym: "SS" RELATED [ONCOTREE:SS]
synonym: "Sézary lymphoma" EXACT [Orphanet:3162]
synonym: "Sézary syndrome" EXACT [Orphanet:3162]
xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"}
xref: EFO:1000785 {source="MONDO:equivalentTo"}
xref: GARD:0007629 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C84.1 {source="ORDO:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"}
xref: ICD10:C84.10 {source="DOID:8541"}
xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"}
xref: ICDO:9701/3 {source="NCIT:C3366"}
xref: MedDRA:10040493 {source="ORDO:3162/e", source="Orphanet:3162"}
xref: MedDRA:10040500 {source="EFO:1000785"}
xref: MESH:D012751 {source="MONDO:equivalentTo", source="EFO:1000785", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"}
xref: NCIT:C3366 {source="MONDO:equivalentTo", source="DOID:8541", source="kboom:pr0.82-conf10.15"}
xref: ONCOTREE:SS {source="MONDO:equivalentTo"}
xref: Orphanet:3162 {source="MONDO:equivalentTo"}
xref: SCTID:118611004 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo", source="DOID:8541"}
xref: UMLS:C0036920 {source="MONDO:equivalentTo", source="NCIT:C3366", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"}
is_a: MONDO:0000607 {source="DOID:8541", source="EFO:1000785", source="MESH:D012751"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0015817 {source="Orphanet:3162"} ! aggressive primary cutaneous T-cell lymphoma
property_value: closeMatch http://identifiers.org/meddra/10040500
property_value: closeMatch http://identifiers.org/snomedct/188629004
property_value: closeMatch http://identifiers.org/snomedct/188638002
property_value: closeMatch http://identifiers.org/snomedct/4950009
property_value: exactMatch DOID:8541
property_value: exactMatch http://identifiers.org/meddra/10040493
property_value: exactMatch http://identifiers.org/mesh/D012751
property_value: exactMatch http://identifiers.org/snomedct/118611004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036920
property_value: exactMatch NCIT:C3366
property_value: exactMatch Orphanet:3162

[Term]
id: MONDO:0017845
name: spastic ataxia
subset: ordo_group_of_disorders {source="Orphanet:316226"}
synonym: "SPAX" EXACT [Orphanet:316226]
xref: DOID:0050952 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="Orphanet:316226", source="MONDO:relatedTo", source="ORDO:316226/index", source="ORDO:316226/ntbt"}
xref: MESH:C564815 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:108600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:316226 {source="MONDO:equivalentTo"}
xref: UMLS:C1849156 {source="Orphanet:316226", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="DOID:0050952", source="Orphanet:316226"} ! hereditary ataxia
property_value: exactMatch DOID:0050952
property_value: exactMatch http://identifiers.org/mesh/C564815
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849156
property_value: exactMatch Orphanet:316226

[Term]
id: MONDO:0017846
name: autosomal dominant spastic ataxia
def: "Autosomal dominant form of spastic ataxia." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:316235"}
synonym: "AD-SPAX" EXACT [Orphanet:316235]
synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:G11.4 {source="MONDO:relatedTo", source="ORDO:316235/attributed", source="ORDO:316235/ntbt", source="Orphanet:316235"}
xref: Orphanet:316235 {source="MONDO:equivalentTo"}
xref: UMLS:CN229111 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316235"} ! spastic ataxia
is_a: MONDO:0020380 ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229111
property_value: exactMatch Orphanet:316235

[Term]
id: MONDO:0017847
name: autosomal recessive spastic ataxia
def: "Autosomal recessive form of spastic ataxia." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:316240"}
synonym: "AR-SPAX" EXACT [Orphanet:316240]
synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G11.8 {source="ORDO:316240/attributed", source="ORDO:316240/ntbt", source="Orphanet:316240"}
xref: Orphanet:316240 {source="MONDO:equivalentTo"}
xref: UMLS:CN229112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 ! autosomal recessive cerebellar ataxia
is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316240"} ! spastic ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229112
property_value: exactMatch Orphanet:316240

[Term]
id: MONDO:0017848
name: partial deletion of the short arm of chromosome 12
subset: ordo_group_of_disorders {source="Orphanet:316244"}
synonym: "partial deletion of chromosome 12p" EXACT [Orphanet:316244]
synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:316244]
synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244]
synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244]
xref: ICD10:Q93.5 {source="ORDO:316244/attributed", source="ORDO:316244/ntbt", source="Orphanet:316244"}
xref: MESH:C538302 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:316244 {source="MONDO:equivalentTo"}
is_a: MONDO:0017277 {source="Orphanet:316244"} ! partial deletion of chromosome 12
property_value: exactMatch http://identifiers.org/mesh/C538302
property_value: exactMatch Orphanet:316244

[Term]
id: MONDO:0017849
name: Siegler-Brewer-Carey syndrome
def: "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." [Orphanet:3167]
subset: gard_rare {source="GARD:0004867"}
subset: ordo_malformation_syndrome {source="Orphanet:3167"}
synonym: "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" RELATED [GARD:0004867]
synonym: "Siegler Brewer Carey syndrome" RELATED [GARD:0004867]
xref: GARD:0004867 {source="MONDO:equivalentTo"}
xref: MESH:C537335 {source="Orphanet:3167", source="ORDO:3167/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3167 {source="MONDO:equivalentTo"}
xref: SCTID:721076000 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:C2931473 {source="Orphanet:3167", source="ORDO:3167/e", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:3167"} ! respiratory system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C537335
property_value: exactMatch http://identifiers.org/snomedct/721076000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931473
property_value: exactMatch Orphanet:3167
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome xsd:anyURI {source="GARD:0004867"}

[Term]
id: MONDO:0017850
name: sirenomelia
def: "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." [Orphanet:3169]
subset: ordo_malformation_syndrome {source="Orphanet:3169"}
synonym: "Fused legs and feet" RELATED [GARD:0007652]
synonym: "mermaid malformation" RELATED [GARD:0007652]
synonym: "mermaid syndrome" RELATED [GARD:0007652]
synonym: "sirenomelia sequence" RELATED [GARD:0007652]
synonym: "Sirenomelus" RELATED [GARD:0007652]
synonym: "symmelia" EXACT [NCIT:C118455]
xref: GARD:0007652 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="Orphanet:3169", source="ORDO:3169/inclusion", source="ORDO:3169/ntbt"}
xref: MedDRA:10049216 {source="Orphanet:3169", source="ORDO:3169/e"}
xref: NCIT:C118455 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.71/0.46"}
xref: Orphanet:3169 {source="MONDO:equivalentTo"}
xref: SCTID:67254002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:C0037205 {source="Orphanet:3169", source="ORDO:3169/e", source="NCIT:C118455", source="MONDO:equivalentTo"}
is_a: MONDO:0010831 ! familial caudal dysgenesis
property_value: exactMatch http://identifiers.org/meddra/10049216
property_value: exactMatch http://identifiers.org/mesh/C538595
property_value: exactMatch http://identifiers.org/snomedct/67254002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037205
property_value: exactMatch NCIT:C118455
property_value: exactMatch Orphanet:3169

[Term]
id: MONDO:0017851
name: erythrokeratodermia variabilis
def: "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents." [NCIT:P378]
subset: gard_rare
subset: ordo_disease {source="Orphanet:317", source="Orphanet:316"}
synonym: "Darier-Gottron disease" EXACT [Orphanet:316]
synonym: "EKV" EXACT [Orphanet:317]
synonym: "EKVP" RELATED [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia Figurata variabilis" EXACT [DOID:0050467]
synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200]
synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154]
synonym: "erythrokeratodermia progressiva symmetrica" EXACT [Orphanet:316]
synonym: "erythrokeratodermia variabilis" EXACT [OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva; EKVP" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema gyratum repens" RELATED [GARD:0003096, MESH:C536154]
synonym: "erythrokeratodermia variabilis, Mendes da Costa type" EXACT [Orphanet:317]
synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200]
synonym: "Greither disease" EXACT EXCLUDE [DOID:0050467]
synonym: "Greither's disease" RELATED [GARD:0003096]
synonym: "keratoderma palmoplantaris transgrediens" RELATED [GARD:0003096]
synonym: "keratosis extremitatum hereditaria progrediens" RELATED [GARD:0003096]
synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200]
synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154]
synonym: "progressive symmetric erythrokeratodermia" RELATED [Orphanet:316]
synonym: "progressive symmetric erythrokeratodermia, Gottron type" EXACT [Orphanet:316]
xref: DOID:0050467 {source="MONDO:equivalentTo"}
xref: GARD:0003096 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:317", source="Orphanet:316", source="ORDO:317/attributed", source="ORDO:317/ntbt", source="ORDO:316/attributed", source="ORDO:316/ntbt"}
xref: MedDRA:10049048 {source="ORDO:317/e", source="Orphanet:317"}
xref: MESH:C536154 {source="MONDO:equivalentTo"}
xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: NCIT:C84696 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: OMIMPS:133200 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="MONDO:equivalentTo", source="OMIM:133200"}
xref: Orphanet:317 {source="MONDO:equivalentTo", source="OMIM:133200"}
xref: SCTID:70041004 {source="DOID:0050467", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.15"}
xref: UMLS:C0265961 {source="ORDO:317/e", source="DOID:0050467", source="Orphanet:317", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133200", source="NCIT:C84696"}
is_a: MONDO:0017262 {source="Orphanet:317"} ! inherited non-syndromic ichthyosis
is_a: MONDO:0017681 {source="Orphanet:316", source="Orphanet:317"} ! erythrokeratoderma variabilis progressiva
is_a: MONDO:0020093 ! autosomal dominant isolated diffuse palmoplantar keratoderma
is_a: MONDO:0020094 {source="Orphanet:316"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
relationship: excluded_subClassOf MONDO:0009490 {source="MESH:C536154"} ! Papillon-Lefevre disease
property_value: closeMatch http://identifiers.org/snomedct/254184006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851479
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851480
property_value: exactMatch DOID:0050467
property_value: exactMatch http://identifiers.org/meddra/10049048
property_value: exactMatch http://identifiers.org/mesh/C536154
property_value: exactMatch http://identifiers.org/mesh/D056266
property_value: exactMatch http://identifiers.org/snomedct/70041004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265961
property_value: exactMatch NCIT:C84696
property_value: exactMatch Orphanet:316
property_value: exactMatch Orphanet:317
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens xsd:anyURI {source="GARD:0003096"}

[Term]
id: MONDO:0017852
name: infantile spasms-broad thumbs syndrome
def: "Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." [Orphanet:3173]
subset: gard_rare
subset: ordo_disease {source="Orphanet:3173"}
synonym: "infantile spasms broad thumbs" RELATED [GARD:0003002]
synonym: "Tsao Ellingson syndrome" RELATED [GARD:0003002]
synonym: "Tsao-Ellingson syndrome" EXACT [Orphanet:3173]
xref: GARD:0003002 {source="MONDO:equivalentTo"}
xref: ICD10:G40.4 {source="ORDO:3173/attributed", source="ORDO:3173/ntbt", source="Orphanet:3173"}
xref: Orphanet:3173 {source="GARD:0003002", source="MONDO:equivalentTo"}
xref: UMLS:CN203849 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020071 ! infantile epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203849
property_value: exactMatch Orphanet:3173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs xsd:anyURI {source="GARD:0003002"}

[Term]
id: MONDO:0017853
name: hypersensitivity pneumonitis
def: "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." [Orphanet:31740]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:31740"}
synonym: "allergic interstitial pneumonitis" RELATED [GARD:0000012]
synonym: "allergic pneumonitis" RELATED [GARD:0000012]
synonym: "alveolitis, extrinsic allergic" RELATED [GARD:0000012]
synonym: "extrinsic allergic alveolitis" EXACT [Orphanet:31740]
synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GARD:0000012]
synonym: "Hp" EXACT [Orphanet:31740]
synonym: "hypersensitivity pneumonitis" EXACT [GARD:0000012]
xref: GARD:0000012 {source="MONDO:equivalentTo"}
xref: ICD10:J67.0 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="ORDO:31740/btnt"}
xref: ICD10:J67.2 {source="Orphanet:31740", source="ORDO:31740/btnt", source="MONDO:directSiblingOf"}
xref: ICD10:J67.3 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.4 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.5 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.6 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.7 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.8 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD10:J67.9 {source="Orphanet:31740", source="ORDO:31740/btnt"}
xref: ICD9:495.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:495.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10001890 {source="Orphanet:31740", source="ORDO:31740/e"}
xref: Orphanet:31740 {source="GARD:0000012", source="MONDO:equivalentTo"}
xref: SCTID:37471005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
is_a: MONDO:0000771 {source="Orphanet:31740"} ! allergic respiratory disease
is_a: MONDO:0017040 {source="Orphanet:31740"} ! exposure-related interstitial lung disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10001890
property_value: exactMatch http://identifiers.org/mesh/D000542
property_value: exactMatch http://identifiers.org/snomedct/37471005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002390
property_value: exactMatch Orphanet:31740

[Term]
id: MONDO:0017854
name: obsolete T-b+ severe combined immunodeficiency
is_obsolete: true

[Term]
id: MONDO:0017855
name: T-B- severe combined immunodeficiency
def: "T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." [Orphanet:317419]
subset: ordo_group_of_disorders {source="Orphanet:317419"}
synonym: "T-B- SCID" EXACT [Orphanet:317419]
xref: ICD10:D81.1 {source="ORDO:317419/specific", source="Orphanet:317419", source="ORDO:317419/e"}
xref: Orphanet:317419 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="MONDOLEX:0017855", source="Orphanet:317419"} ! severe combined immunodeficiency (disease)
property_value: exactMatch Orphanet:317419

[Term]
id: MONDO:0017856
name: X-linked spasticity-intellectual disability-epilepsy syndrome
subset: ordo_disease {source="Orphanet:3175"}
xref: ICD10:G25.3 {source="ORDO:3175/attributed", source="ORDO:3175/ntbt", source="Orphanet:3175"}
xref: Orphanet:3175 {source="MONDO:equivalentTo"}
xref: UMLS:CN203866 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:3175"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:3175"} ! ARX-related epileptic encephalopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203866
property_value: exactMatch Orphanet:3175

[Term]
id: MONDO:0017857
name: spina bifida-hypospadias syndrome
def: "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." [Orphanet:3176]
subset: ordo_malformation_syndrome {source="Orphanet:3176"}
xref: ICD10:Q05.9 {source="ORDO:3176/attributed", source="ORDO:3176/ntbt", source="Orphanet:3176"}
xref: Orphanet:3176 {source="MONDO:equivalentTo"}
xref: UMLS:CN203872 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015620 {source="Orphanet:3176"} ! syndromic urogenital tract malformation
is_a: MONDO:0017120 {source="Orphanet:3176"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203872
property_value: exactMatch Orphanet:3176

[Term]
id: MONDO:0017858
name: acute erythroid leukemia
def: "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" [NCIT:C8923]
subset: gard_rare {source="GARD:0009620"}
subset: ordo_disease {source="Orphanet:318"}
synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923]
synonym: "acute erythroid leukemia" EXACT [NCIT:C8923]
synonym: "acute erythroleukemia" RELATED [GARD:0009620]
synonym: "acute erythroleukemia M6a subtype" RELATED [GARD:0009620]
synonym: "acute erythroleukemia M6b subtype" RELATED [GARD:0009620]
synonym: "acute myeloid leukemia FAB-M6" RELATED [GARD:0009620]
synonym: "acute myeloid leukemia M6" EXACT [Orphanet:318]
synonym: "AEL" EXACT [NCIT:C8923]
synonym: "AML M6" EXACT [Orphanet:318]
synonym: "AML-M6" RELATED [GARD:0009620]
synonym: "Di Guglielmo syndrome" RELATED [GARD:0009620]
synonym: "Di Guglielmo's syndrome" RELATED [GARD:0009750]
synonym: "erythroblastic leukemia" EXACT [NCIT:C8923]
synonym: "Erythroleukemia" EXACT [Orphanet:318]
synonym: "FAB M6" EXACT [NCIT:C8923]
synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923]
synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923]
xref: GARD:0009620 {source="MONDO:equivalentTo"}
xref: GARD:0009750 {source="MONDO:equivalentTo"}
xref: ICD10:C94.0 {source="Orphanet:318", source="ORDO:318/ntbt"}
xref: ICD9:205.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:207.00 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9840/3 {source="NCIT:C8923"}
xref: MESH:D004915 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C8923 {source="MONDO:equivalentTo"}
xref: Orphanet:318 {source="MONDO:equivalentTo"}
xref: SCTID:93451002 {source="MONDO:kboom-pr-1.00/0.75/6.50", source="MONDO:equivalentTo"}
xref: UMLS:C0023440 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:318", source="GARD:0009750", source="NCIT:C8923"}
is_a: MONDO:0015667 {source="NCIT:C8923", source="Orphanet:318"} ! unclassified acute myeloid leukemia
is_a: MONDO:0020703 {source="NCIT:C8923"} ! erythroid neoplasm
property_value: exactMatch http://identifiers.org/mesh/D004915
property_value: exactMatch http://identifiers.org/snomedct/93451002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023440
property_value: exactMatch NCIT:C8923
property_value: exactMatch Orphanet:318
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia xsd:anyURI {source="GARD:0009620"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome xsd:anyURI {source="GARD:0009750"}

[Term]
id: MONDO:0017859
name: colchicine poisoning
def: ", that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." [Orphanet:31824]
subset: ordo_clinical_situation {source="Orphanet:31824"}
xref: ICD10:T50.4 {source="ORDO:31824/ntbt", source="Orphanet:31824"}
xref: ICD9:974.7 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:31824 {source="MONDO:equivalentTo"}
xref: SCTID:24354007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
xref: UMLS:CN203894 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:31824"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/snomedct/24354007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203894
property_value: exactMatch Orphanet:31824

[Term]
id: MONDO:0017860
name: methanol poisoning
def: "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." [Orphanet:31825]
subset: ordo_disease {source="Orphanet:31825"}
xref: ICD10:T51.1 {source="ORDO:31825/e", source="Orphanet:31825"}
xref: Orphanet:31825 {source="MONDO:equivalentTo"}
xref: UMLS:CN203895 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31825"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203895
property_value: exactMatch Orphanet:31825

[Term]
id: MONDO:0017861
name: ethylene glycol poisoning
def: "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." [Orphanet:31826]
subset: ordo_disease {source="Orphanet:31826"}
xref: ICD10:T52.8 {source="ORDO:31826/ntbt", source="Orphanet:31826"}
xref: ICD9:982.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:31826 {source="MONDO:equivalentTo"}
xref: SCTID:426692001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31826"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/426692001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0413194
property_value: exactMatch Orphanet:31826

[Term]
id: MONDO:0017862
name: paraquat poisoning
def: "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." [Orphanet:31827]
subset: ordo_disease {source="Orphanet:31827"}
xref: ICD10:T60.3 {source="ORDO:31827/ntbt", source="Orphanet:31827"}
xref: Orphanet:31827 {source="MONDO:equivalentTo"}
xref: UMLS:CN227212 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31827"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227212
property_value: exactMatch Orphanet:31827

[Term]
id: MONDO:0017863
name: digitalis poisoning
def: "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." [Orphanet:31828]
subset: ordo_clinical_situation {source="Orphanet:31828"}
xref: ICD10:T46.0 {source="ORDO:31828/ntbt", source="Orphanet:31828"}
xref: Orphanet:31828 {source="MONDO:equivalentTo"}
xref: SCTID:12876009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
xref: UMLS:CN203897 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:31828"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/snomedct/12876009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203897
property_value: exactMatch Orphanet:31828

[Term]
id: MONDO:0017864
name: congenital pulmonary veins atresia or stenosis
def: "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH) (see this term). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly (see this term) and septal defects." [Orphanet:3188]
subset: ordo_morphological_anomaly {source="Orphanet:3188"}
synonym: "pulmonary vein stenosis" RELATED [GARD:0004598]
synonym: "pulmonary veins stenosis" RELATED [GARD:0004598]
xref: GARD:0004598 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q26.3 {source="Orphanet:3188", source="ORDO:3188/e"}
xref: Orphanet:3188 {source="MONDO:equivalentTo"}
xref: SCTID:234062003 {source="MONDO:equivalentTo"}
xref: UMLS:C0340756 {source="MONDO:equivalentTo"}
is_a: MONDO:0020292 {source="Orphanet:3188"} ! congenital anomaly of the great arteries
property_value: exactMatch http://identifiers.org/snomedct/234062003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340756
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344679
property_value: exactMatch Orphanet:3188

[Term]
id: MONDO:0017865
name: congenital pulmonary valve stenosis
def: "Congenital pulmonary stenosis (PS) is a congenital heart malformation (see this term) that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS; see these terms)." [Orphanet:3189]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:3189"}
synonym: "heart valve pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvar pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvate pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvular pulmonary stenosis" RELATED [GARD:0004596]
xref: COHD:313005 {source="MONDO:equivalentTo"}
xref: GARD:0004596 {source="MONDO:equivalentTo"}
xref: ICD10:Q22.1 {source="Orphanet:3189", source="ORDO:3189/e", source="MONDO:equivalentTo"}
xref: MedDRA:10037451 {source="Orphanet:3189", source="ORDO:3189/e"}
xref: Orphanet:3189 {source="MONDO:equivalentTo"}
is_a: MONDO:0020287 {source="Orphanet:3189"} ! pulmonary artery or pulmonary branch anomaly
property_value: exactMatch http://identifiers.org/meddra/10037451
property_value: exactMatch http://identifiers.org/mesh/D011666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162164
property_value: exactMatch Orphanet:3189

[Term]
id: MONDO:0017866
name: subpulmonary stenosis
subset: gard_rare {source="GARD:0005051"}
subset: ordo_clinical_subtype {source="Orphanet:3190"}
xref: GARD:0005051 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.3 {source="Orphanet:3190", source="ORDO:3190/e"}
xref: Orphanet:3190 {source="MONDO:equivalentTo"}
xref: SCTID:448476001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3165028 {source="MONDO:equivalentTo", source="Orphanet:3190", source="ORDO:3190/e"}
is_a: MONDO:0017865 {source="Orphanet:3190"} ! congenital pulmonary valve stenosis
property_value: exactMatch http://identifiers.org/snomedct/448476001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165028
property_value: exactMatch Orphanet:3190
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis xsd:anyURI {source="GARD:0005051"}

[Term]
id: MONDO:0017867
name: distal 17p13.1 microdeletion syndrome
def: "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [Orphanet:319171]
subset: ordo_malformation_syndrome {source="Orphanet:319171"}
synonym: "distal del(17)(p13.1)" EXACT [Orphanet:319171]
xref: ICD10:Q93.5 {source="Orphanet:319171", source="ORDO:319171/attributed", source="ORDO:319171/ntbt"}
xref: Orphanet:319171 {source="MONDO:equivalentTo"}
xref: UMLS:CN203914 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319171", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:319171"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016895 {source="Orphanet:319171"} ! partial monosomy of the short arm of chromosome 17
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203914
property_value: exactMatch Orphanet:319171

[Term]
id: MONDO:0017868
name: diencephalic-mesencephalic junction dysplasia
def: "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." [Orphanet:319192]
subset: ordo_morphological_anomaly {source="Orphanet:319192"}
xref: ICD10:Q04.8 {source="Orphanet:319192", source="ORDO:319192/attributed", source="ORDO:319192/ntbt"}
xref: Orphanet:319192 {source="MONDO:equivalentTo"}
is_a: MONDO:0016054 {source="Orphanet:319192"} ! cerebral malformation
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:319192", source="Orphanet:319192/inferred"} ! genetic nervous system disorder
property_value: exactMatch Orphanet:319192

[Term]
id: MONDO:0017869
name: chondroectodermal dysplasia with night blindness
def: "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." [Orphanet:319195]
subset: ordo_disease {source="Orphanet:319195"}
xref: ICD10:Q77.6 {source="Orphanet:319195", source="ORDO:319195/attributed", source="ORDO:319195/ntbt"}
xref: Orphanet:319195 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:319195"} ! eye disease
is_a: MONDO:0019287 {source="MONDOLEX:0017869", source="Orphanet:319195"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019704 {source="Orphanet:319195"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch Orphanet:319195

[Term]
id: MONDO:0017870
name: supravalvular pulmonary stenosis
subset: gard_rare {source="GARD:0004594"}
subset: ordo_clinical_subtype {source="Orphanet:3192"}
synonym: "pulmonary supravalvular stenosis" RELATED [GARD:0004594]
xref: GARD:0004594 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.6 {source="Orphanet:3192", source="ORDO:3192/e"}
xref: Orphanet:3192 {source="MONDO:equivalentTo"}
is_a: MONDO:0017865 {source="Orphanet:3192"} ! congenital pulmonary valve stenosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2910138
property_value: exactMatch Orphanet:3192
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis xsd:anyURI {source="GARD:0004594"}

[Term]
id: MONDO:0017871
name: bilateral massive adrenal hemorrhage
subset: ordo_etiological_subtype {source="Orphanet:319205"}
synonym: "bilateral adrenal hemorrhage" EXACT [Orphanet:319205]
synonym: "BMAH" EXACT [Orphanet:319205]
xref: ICD10:E27.4 {source="ORDO:319205/ntbt", source="Orphanet:319205"}
xref: Orphanet:319205 {source="MONDO:equivalentTo"}
xref: UMLS:CN203920 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019801 {source="Orphanet:319205"} ! acute adrenal insufficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203920
property_value: exactMatch Orphanet:319205

[Term]
id: MONDO:0017872
name: Lujo hemorrhagic fever
def: "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." [Orphanet:319213]
subset: ordo_disease {source="Orphanet:319213"}
synonym: "Zambian hemorrhagic fever" EXACT [Orphanet:319213]
xref: DOID:0050202 {source="MONDO:equivalentTo"}
xref: ICD10:A96.8 {source="ORDO:319213/ntbt", source="Orphanet:319213"}
xref: Orphanet:319213 {source="MONDO:equivalentTo"}
xref: SCTID:716585008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274433 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN203921 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
property_value: exactMatch DOID:0050202
property_value: exactMatch http://identifiers.org/snomedct/716585008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203921
property_value: exactMatch Orphanet:319213

[Term]
id: MONDO:0017873
name: obsolete Ebola hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0005737

[Term]
id: MONDO:0017874
name: Argentine hemorrhagic fever
def: "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." [Orphanet:319223]
subset: ordo_disease {source="Orphanet:319223"}
synonym: "Argentinian hemorrhagic fever" EXACT [Orphanet:319223]
synonym: "Junin hemorrhagic fever" EXACT [Orphanet:319223]
xref: DOID:0050194 {source="MONDO:equivalentTo"}
xref: ICD10:A96.0 {source="ORDO:319223/e", source="Orphanet:319223"}
xref: Orphanet:319223 {source="MONDO:equivalentTo"}
xref: SCTID:58868000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019097 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:319223"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050194
property_value: exactMatch http://identifiers.org/snomedct/58868000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019097
property_value: exactMatch Orphanet:319223

[Term]
id: MONDO:0017875
name: Bolivian hemorrhagic fever
def: "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." [Orphanet:319229]
subset: ordo_disease {source="Orphanet:319229"}
synonym: "Machupo hemorrhagic fever" EXACT [Orphanet:319229]
xref: DOID:0050195 {source="MONDO:equivalentTo"}
xref: ICD10:A96.1 {source="Orphanet:319229", source="ORDO:319229/e"}
xref: MedDRA:10005932 {source="Orphanet:319229", source="ORDO:319229/e"}
xref: Orphanet:319229 {source="MONDO:equivalentTo"}
xref: SCTID:67247008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282192 {source="Orphanet:319229", source="MONDO:equivalentTo", source="ORDO:319229/e"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050195
property_value: exactMatch http://identifiers.org/meddra/10005932
property_value: exactMatch http://identifiers.org/snomedct/67247008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282192
property_value: exactMatch Orphanet:319229

[Term]
id: MONDO:0017876
name: Venezuelan hemorrhagic fever
def: "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." [Orphanet:319234]
subset: ordo_disease {source="Orphanet:319234"}
synonym: "Guanarito hemorrhagic fever" EXACT [Orphanet:319234]
xref: DOID:0050196 {source="MONDO:equivalentTo"}
xref: ICD10:A96.8 {source="ORDO:319234/ntbt", source="Orphanet:319234"}
xref: Orphanet:319234 {source="MONDO:equivalentTo"}
xref: SCTID:359673001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0042470 {source="MONDO:equivalentTo", source="ORDO:319234/e", source="Orphanet:319234"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:0050196
property_value: exactMatch http://identifiers.org/snomedct/359673001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042470
property_value: exactMatch Orphanet:319234

[Term]
id: MONDO:0017877
name: Brazilian hemorrhagic fever
def: "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." [Orphanet:319239]
subset: ordo_disease {source="Orphanet:319239"}
synonym: "Sabia hemorrhagic fever" EXACT [Orphanet:319239]
xref: DOID:0050197 {source="MONDO:equivalentTo"}
xref: ICD10:A96.8 {source="ORDO:319239/ntbt", source="Orphanet:319239"}
xref: Orphanet:319239 {source="MONDO:equivalentTo"}
xref: SCTID:240524001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343633 {source="MONDO:equivalentTo", source="Orphanet:319239", source="ORDO:319239/e"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
property_value: exactMatch DOID:0050197
property_value: exactMatch http://identifiers.org/snomedct/240524001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343633
property_value: exactMatch Orphanet:319239

[Term]
id: MONDO:0017878
name: Chapare hemorrhagic fever
def: "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." [Orphanet:319244]
subset: ordo_disease {source="Orphanet:319244"}
xref: DOID:0050198 {source="MONDO:equivalentTo"}
xref: ICD10:A96.8 {source="ORDO:319244/ntbt", source="Orphanet:319244"}
xref: Orphanet:319244 {source="MONDO:equivalentTo"}
xref: SCTID:716584007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274434 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN203927 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005651 ! arenavirus hemorrhagic fever
property_value: exactMatch DOID:0050198
property_value: exactMatch http://identifiers.org/snomedct/716584007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203927
property_value: exactMatch Orphanet:319244

[Term]
id: MONDO:0017879
name: hantavirus pulmonary syndrome
def: "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." [NCIT:P378]
subset: gard_rare
subset: ordo_disease {source="Orphanet:319247"}
synonym: "four corners hantavirus" RELATED [GARD:0000069]
synonym: "Hantavirus" RELATED [GARD:0000069]
synonym: "Hantavirus-associated respiratory distress syndrome" RELATED [GARD:0000069]
synonym: "HARDS" RELATED [GARD:0000069]
xref: DOID:14472 {source="MONDO:equivalentTo", source="EFO:0007296"}
xref: EFO:0007296 {source="MONDO:equivalentTo"}
xref: GARD:0000069 {source="MONDO:equivalentTo"}
xref: ICD10:B33.4+ {source="ORDO:319247/e", source="Orphanet:319247"}
xref: ICD10:J17.1* {source="ORDO:319247/e", source="Orphanet:319247"}
xref: ICD9:480.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10019143 {source="ORDO:319247/e", source="Orphanet:319247"}
xref: MESH:D018804 {source="DOID:14472", source="MONDO:equivalentTo", source="EFO:0007296", source="MONDO:ontobio"}
xref: NCIT:C84747 {source="DOID:14472", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:319247 {source="MONDO:equivalentTo"}
xref: SCTID:120639003 {source="DOID:14472", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0243025 {source="GARD:0000069", source="NCIT:C84747", source="DOID:14472", source="MONDO:equivalentTo", source="ORDO:319247/e", source="Orphanet:319247"}
is_a: MONDO:0002254 {source="MONDOLEX:0017879", source="NCIT:C84747"} ! syndromic disease
is_a: MONDO:0005275 ! lung disease
is_a: MONDO:0005780 {source="MESH:D018804", source="MONDO:Redundant", source="NCIT:C84747", source="linkedlifedata"} ! hantavirus infectious disease
is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever
is_a: MONDO:0024352 ! viral respiratory tract infection
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch DOID:14472
property_value: exactMatch http://identifiers.org/meddra/10019143
property_value: exactMatch http://identifiers.org/mesh/D018804
property_value: exactMatch http://identifiers.org/snomedct/120639003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0243025
property_value: exactMatch NCIT:C84747
property_value: exactMatch Orphanet:319247

[Term]
id: MONDO:0017880
name: Rift valley fever
def: "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." [Orphanet:319251]
subset: ordo_disease {source="Orphanet:319251"}
synonym: "RVF" EXACT [NCIT:C128419]
xref: DOID:1328 {source="MONDO:equivalentTo"}
xref: ICD10:A92.4 {source="Orphanet:319251", source="ORDO:319251/e", source="MONDO:equivalentTo", source="DOID:1328"}
xref: MedDRA:10039143 {source="Orphanet:319251", source="ORDO:319251/e"}
xref: MESH:D012295 {source="MONDO:equivalentTo", source="DOID:1328", source="MONDO:ontobio"}
xref: NCIT:C128419 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:319251 {source="MONDO:equivalentTo"}
xref: SCTID:402917003 {source="MONDO:equivalentTo", source="DOID:1328", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035613 {source="Orphanet:319251", source="ORDO:319251/e", source="MONDO:equivalentTo", source="DOID:1328", source="NCIT:C128419"}
is_a: MONDO:0018087 {source="MESH:D012295", source="MONDO:Redundant", source="NCIT:C128419", source="Orphanet:319251"} ! viral hemorrhagic fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/7077006
property_value: exactMatch DOID:1328
property_value: exactMatch http://identifiers.org/meddra/10039143
property_value: exactMatch http://identifiers.org/mesh/D012295
property_value: exactMatch http://identifiers.org/snomedct/402917003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035613
property_value: exactMatch NCIT:C128419
property_value: exactMatch Orphanet:319251

[Term]
id: MONDO:0017881
name: Kyasanur forest disease
def: "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." [Orphanet:319254]
subset: gard_rare {source="GARD:0008257"}
subset: ordo_disease {source="Orphanet:319254"}
synonym: "KFD" RELATED [GARD:0008257]
synonym: "KFD virus" RELATED [GARD:0008257]
synonym: "Kyasanur forest disease virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Kyasanur forest disease virus disease or disorder" EXACT []
synonym: "Kyasanur forest disease virus infectious disease" EXACT []
synonym: "Kyasanur hemorrhagic fever" EXACT [Orphanet:319254]
synonym: "monkey disease" EXACT [Orphanet:319254]
synonym: "monkey fever" EXACT [Orphanet:319254]
xref: DOID:11320 {source="MONDO:equivalentTo"}
xref: GARD:0008257 {source="MONDO:equivalentTo"}
xref: ICD10:A98.2 {source="MONDO:equivalentTo", source="ORDO:319254/e", source="Orphanet:319254", source="DOID:11320"}
xref: ICD9:065.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11320"}
xref: MedDRA:10023505 {source="ORDO:319254/e", source="Orphanet:319254"}
xref: MESH:D007733 {source="MONDO:equivalentTo", source="DOID:11320"}
xref: Orphanet:319254 {source="MONDO:equivalentTo"}
xref: SCTID:23097003 {source="MONDO:equivalentTo", source="DOID:11320", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022810 {source="MONDO:equivalentTo", source="ORDO:319254/e", source="Orphanet:319254", source="DOID:11320"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0018087 {source="MESH:D007733", source="Orphanet:319254", source="linkedlifedata"} ! viral hemorrhagic fever
property_value: exactMatch DOID:11320
property_value: exactMatch http://identifiers.org/meddra/10023505
property_value: exactMatch http://identifiers.org/mesh/D007733
property_value: exactMatch http://identifiers.org/snomedct/23097003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022810
property_value: exactMatch Orphanet:319254
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease xsd:anyURI {source="GARD:0008257"}

[Term]
id: MONDO:0017882
name: Omsk hemorrhagic fever
def: "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." [Orphanet:319266]
subset: gard_rare {source="GARD:0008254"}
subset: ordo_disease {source="Orphanet:319266"}
xref: DOID:992 {source="MONDO:equivalentTo"}
xref: GARD:0008254 {source="MONDO:equivalentTo"}
xref: ICD10:A98.1 {source="MONDO:equivalentTo", source="Orphanet:319266", source="ORDO:319266/e", source="DOID:992"}
xref: ICD9:065.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:992"}
xref: MedDRA:10030310 {source="Orphanet:319266", source="ORDO:319266/e"}
xref: MESH:D006481 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:992"}
xref: Orphanet:319266 {source="MONDO:equivalentTo"}
xref: SCTID:48113006 {source="MONDO:equivalentTo", source="DOID:992", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019103 {source="MONDO:equivalentTo", source="Orphanet:319266", source="ORDO:319266/e", source="DOID:992"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0018087 {source="MESH:D006481", source="MONDO:Redundant", source="Orphanet:319266", source="linkedlifedata"} ! viral hemorrhagic fever
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: exactMatch DOID:992
property_value: exactMatch http://identifiers.org/meddra/10030310
property_value: exactMatch http://identifiers.org/mesh/D006481
property_value: exactMatch http://identifiers.org/snomedct/48113006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019103
property_value: exactMatch Orphanet:319266
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever xsd:anyURI {source="GARD:0008254"}

[Term]
id: MONDO:0017883
name: obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential
is_obsolete: true
replaced_by: MONDO:0003010

[Term]
id: MONDO:0017884
name: papillary renal cell carcinoma
def: "Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." [Orphanet:319298]
subset: gard_rare {source="GARD:0009572"}
subset: ordo_disease {source="Orphanet:47044", source="Orphanet:319298"}
synonym: "chromophil carcinoma of kidney" EXACT [DOID:4465, NCIT:C6975]
synonym: "chromophil carcinoma of the kidney" EXACT [NCIT:C6975]
synonym: "chromophil RCC" RELATED [GARD:0009575]
synonym: "chromophil renal cell carcinoma" EXACT [NCIT:C6975]
synonym: "HPRCC" EXACT [Orphanet:47044]
synonym: "papillary (chromophil) renal cell carcinoma" EXACT [NCIT:C6975]
synonym: "papillary kidney carcinoma" EXACT [DOID:4465]
synonym: "papillary renal carcinoma, malignant - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell adenocarcinoma" EXACT [Orphanet:319298]
synonym: "papillary renal cell cancer" EXACT [NCIT:C6975]
synonym: "papillary renal cell carcinoma" EXACT [DOID:4465, NCIT:C6975]
synonym: "papillary renal cell carcinoma, bilateral - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, familial - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, multiple - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, sporadic - (subtype)" RELATED [GARD:0009572]
synonym: "RCCP" RELATED [GARD:0009572]
synonym: "RCCP1" RELATED [MONDO:Lexical, OMIM:605074]
synonym: "renal adenocarcinoma" RELATED [GARD:0009572]
synonym: "renal cell carcinoma, papillary, 1" RELATED [MONDO:Lexical, OMIM:605074]
synonym: "renal cell carcinoma, papillary, 1; RCCP1" RELATED [OMIM:605074]
synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1, OMIM:605074]
synonym: "sporadic papillary renal cell carcinoma" EXACT [DOID:4465]
xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"}
xref: EFO:0000640 {source="MONDO:equivalentTo"}
xref: GARD:0009572 {source="MONDO:equivalentTo"}
xref: GARD:0009575 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="ORDO:47044/attributed", source="ORDO:47044/ntbt", source="ORDO:319298/ntbt", source="Orphanet:47044", source="Orphanet:319298"}
xref: NCIT:C6975 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo"}
xref: OMIM:605074 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo", source="ORDO:47044/e", source="Orphanet:47044"}
xref: ONCOTREE:PRCC {source="MONDO:equivalentTo"}
xref: Orphanet:319298 {source="MONDO:equivalentTo"}
xref: Orphanet:47044 {source="MONDO:equivalentTo", source="OMIM:605074"}
xref: SCTID:733608000 {source="MONDO:equivalentTo"}
xref: UMLS:C1306837 {source="DOID:4465", source="MONDO:equivalentTo", source="ORDO:319298/e", source="NCIT:C6975", source="Orphanet:319298"}
xref: UMLS:C1336078 {source="MEDGEN:kboom-pr98-c99", source="DOID:4465", source="MONDO:equivalentTo"}
xref: UMLS:CN205129 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002512 {source="NCIT:C6975"} ! papillary adenocarcinoma
is_a: MONDO:0005549 {source="MONDO:Redundant", source="MONDOLEX:0017884", source="NCIT:C6975"} ! renal cell adenocarcinoma
relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:47044"} ! inherited renal cancer-predisposing syndrome
property_value: closeMatch http://identifiers.org/snomedct/4797003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336839
property_value: closeMatch NCIT:C27890
property_value: exactMatch DOID:4465
property_value: exactMatch http://identifiers.org/mesh/C538614
property_value: exactMatch http://identifiers.org/omim/605074
property_value: exactMatch http://identifiers.org/snomedct/733608000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205129
property_value: exactMatch NCIT:C6975
property_value: exactMatch Orphanet:319298
property_value: exactMatch Orphanet:47044
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma xsd:anyURI {source="GARD:0009572"}

[Term]
id: MONDO:0017885
name: chromophobe renal cell carcinoma
def: "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." [Orphanet:319303]
subset: gard_rare {source="GARD:0006064"}
subset: ordo_disease {source="Orphanet:319303"}
synonym: "CHRCC" RELATED [ONCOTREE:CHRCC]
synonym: "ChRCC" RELATED [GARD:0006064]
synonym: "chromophobe adenocarcinoma" EXACT [DOID:4471, NCIT:C4146]
synonym: "chromophobe carcinoma" EXACT [NCIT:C4146]
synonym: "chromophobe carcinoma of kidney" EXACT [DOID:4471, NCIT:C4146]
synonym: "chromophobe carcinoma of the kidney" EXACT [NCIT:C4146]
synonym: "chromophobe cell carcinoma of kidney" EXACT [NCIT:C4146]
synonym: "chromophobe cell carcinoma of the kidney" EXACT [NCIT:C4146]
synonym: "chromophobe renal cell adenocarcinoma" EXACT [Orphanet:319303]
synonym: "chromophobe renal cell cancer" EXACT [NCIT:C4146]
synonym: "chromophobe renal cell carcinoma" EXACT [NCIT:C4146]
synonym: "CRCC" RELATED [GARD:0006064]
synonym: "kidney chromophobe" EXACT [DOID:4471]
synonym: "renal cell carcinoma, chromophobe cell" EXACT [DOID:4471]
synonym: "renal cell carcinoma, chromophobe type" EXACT [NCIT:C4146]
xref: DOID:4471 {source="MONDO:equivalentTo", source="EFO:0000335"}
xref: EFO:0000335 {source="MONDO:equivalentTo"}
xref: GARD:0006064 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="Orphanet:319303", source="ORDO:319303/ntbt"}
xref: ICDO:8270/3 {source="NCIT:C4146"}
xref: ICDO:8317/3 {source="NCIT:C4146"}
xref: NCIT:C4146 {source="MONDO:equivalentTo", source="EFO:0000335", source="DOID:4471", source="exact-label-match"}
xref: ONCOTREE:CHRCC {source="MONDO:equivalentTo"}
xref: Orphanet:319303 {source="MONDO:equivalentTo"}
xref: SCTID:733471003 {source="MONDO:equivalentTo"}
xref: UMLS:C1266042 {source="MONDO:equivalentTo", source="NCIT:C4146", source="DOID:4471", source="Orphanet:319303", source="ORDO:319303/e"}
xref: UMLS:C3887514 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005549 {source="MONDOLEX:0017885", source="NCIT:C4146"} ! renal cell adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/128667008
property_value: closeMatch http://identifiers.org/snomedct/1443001
property_value: exactMatch DOID:4471
property_value: exactMatch http://identifiers.org/snomedct/733471003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887514
property_value: exactMatch NCIT:C4146
property_value: exactMatch Orphanet:319303
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma xsd:anyURI {source="GARD:0006064"}

[Term]
id: MONDO:0017886
name: MIT family translocation renal cell carcinoma
def: "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." [Orphanet:319308]
subset: ordo_disease {source="Orphanet:319308"}
synonym: "carcinoma associated with MITF/TFE translocation" EXACT [Orphanet:319308]
synonym: "translocation renal cell carcinoma" EXACT [Orphanet:319308]
xref: ICD10:C64 {source="Orphanet:319308", source="ORDO:319308/ntbt"}
xref: Orphanet:319308 {source="MONDO:equivalentTo"}
xref: SCTID:764694005 {source="MONDO:equivalentTo"}
xref: UMLS:C4518356 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005086 {source="MONDOLEX:0017886", source="Orphanet:319308"} ! renal cell carcinoma (disease)
property_value: exactMatch http://identifiers.org/snomedct/764694005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518356
property_value: exactMatch Orphanet:319308

[Term]
id: MONDO:0017887
name: renal cell carcinoma associated with neuroblastoma
def: "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." [NCIT:P378]
subset: ordo_histopathological_subtype {source="Orphanet:319314"}
synonym: "renal cell cancer associated with neuroblastoma" EXACT [NCIT:C100051]
synonym: "renal cell carcinoma after neuroblastoma" EXACT [Orphanet:319314]
synonym: "renal cell carcinoma associated with neuroblastoma" EXACT [NCIT:C100051]
xref: ICD10:C64 {source="Orphanet:319314", source="ORDO:319314/ntbt"}
xref: NCIT:C100051 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:319314 {source="MONDO:equivalentTo"}
xref: UMLS:C3272295 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C100051", source="MONDO:equivalentTo"}
is_a: MONDO:0005549 {source="MONDOLEX:0017887", source="NCIT:C100051"} ! renal cell adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272295
property_value: exactMatch NCIT:C100051
property_value: exactMatch Orphanet:319314

[Term]
id: MONDO:0017889
name: obsolete mucinous tubular and spindle cell renal carcinoma
is_obsolete: true
replaced_by: MONDO:0003011

[Term]
id: MONDO:0017890
name: tubulocystic renal cell carcinoma
def: "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." [Orphanet:319325]
subset: ordo_disease {source="Orphanet:319325"}
synonym: "Tubulocystic renal cell cancer" EXACT [NCIT:C126303]
xref: ICD10:C64 {source="Orphanet:319325", source="ORDO:319325/ntbt"}
xref: NCIT:C126303 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:319325 {source="MONDO:equivalentTo"}
xref: SCTID:733603009 {source="MONDO:equivalentTo"}
xref: UMLS:C4288091 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005549 {source="MONDOLEX:0017890", source="NCIT:C126303"} ! renal cell adenocarcinoma
property_value: exactMatch http://identifiers.org/snomedct/733603009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288091
property_value: exactMatch NCIT:C126303
property_value: exactMatch Orphanet:319325

[Term]
id: MONDO:0017891
name: inherited renal cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:319328"}
xref: Orphanet:319328 {source="MONDO:equivalentTo"}
xref: UMLS:CN203941 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:319328"} ! kidney disease
is_a: MONDO:0015356 {source="Orphanet:319328"} ! hereditary neoplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203941
property_value: exactMatch Orphanet:319328

[Term]
id: MONDO:0017892
name: autosomal recessive myogenic arthrogryposis multiplex congenita
def: "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." [Orphanet:319332]
subset: ordo_disease {source="Orphanet:319332"}
synonym: "autosomal recessive myogenic AMC" EXACT [Orphanet:319332]
synonym: "SYNE1-related AMC" EXACT [Orphanet:319332]
synonym: "SYNE1-related arthrogryposis multiplex congenita" EXACT [Orphanet:319332]
xref: ICD10:Q74.3 {source="ORDO:319332/attributed", source="ORDO:319332/ntbt", source="Orphanet:319332"}
xref: Orphanet:319332 {source="MONDO:equivalentTo"}
xref: SCTID:764812008 {source="MONDO:equivalentTo"}
xref: UMLS:CN203942 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:319332"} ! arthrogryposis multiplex congenita
is_a: MONDO:0019950 {source="Orphanet:319332"} ! congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/snomedct/764812008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203942
property_value: exactMatch Orphanet:319332

[Term]
id: MONDO:0017893
name: inherited acute myeloid leukemia
def: "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:319465"}
synonym: "familial AML" EXACT [Orphanet:319465]
synonym: "hereditary acute myeloid leukemia" EXACT [MONDO:patterns/hereditary]
synonym: "inherited AML" EXACT [Orphanet:319465]
synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465]
synonym: "Pure familial AML" EXACT [Orphanet:319465]
xref: ICD10:C92.0 {source="ORDO:319465/attributed", source="ORDO:319465/ntbt", source="Orphanet:319465"}
xref: Orphanet:319465 {source="MONDO:equivalentTo"}
xref: SCTID:764940002 {source="MONDO:equivalentTo"}
xref: UMLS:CN203946 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011118 ! bilineal acute myeloid leukemia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0018874 ! acute myeloid leukemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/764940002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203946
property_value: exactMatch Orphanet:319465

[Term]
id: MONDO:0017894
name: acute myeloid leukemia with CEBPA somatic mutations
def: "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." [Orphanet:319480]
subset: ordo_disease {source="Orphanet:319480"}
synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480]
xref: ICD10:C92.0 {source="Orphanet:319480", source="ORDO:319480/attributed", source="ORDO:319480/ntbt"}
xref: Orphanet:319480 {source="MONDO:equivalentTo"}
xref: SCTID:764855007 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:319480"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch http://identifiers.org/snomedct/764855007
property_value: exactMatch Orphanet:319480

[Term]
id: MONDO:0017895
name: familial papillary or follicular thyroid carcinoma
def: "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." [NCIT:C118829]
subset: ordo_disease {source="Orphanet:319487"}
synonym: "familial nonmedullary thyroid gland carcinoma" EXACT [NCIT:C118829]
synonym: "familial pure nonmedullary thyroid carcinoma" EXACT [Orphanet:319487]
synonym: "FNMTC" EXACT [NCIT:C118829, Orphanet:319487]
xref: ICD10:C73 {source="ORDO:319487/attributed", source="ORDO:319487/ntbt", source="Orphanet:319487"}
xref: NCIT:C118829 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:319487 {source="MONDO:equivalentTo"}
xref: UMLS:C3896673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C118829"}
xref: UMLS:CN227215 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015447 {source="MONDOLEX:0017895", source="NCIT:C118829"} ! differentiated thyroid carcinoma
is_a: MONDO:0017896 {source="Orphanet:319487"} ! familial nonmedullary thyroid carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227215
property_value: exactMatch NCIT:C118829
property_value: exactMatch Orphanet:319487

[Term]
id: MONDO:0017896
name: familial nonmedullary thyroid carcinoma
def: "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." [Orphanet:319494]
comment: Note the OMIM phenotypic series lacks a member classified by ORDO
subset: ordo_group_of_disorders {source="Orphanet:319494"}
synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201]
xref: DC:0000711 {source="MONDO:equivalentTo"}
xref: ICD10:C73 {source="ORDO:319494/attributed", source="ORDO:319494/ntbt", source="Orphanet:319494"}
xref: OMIMPS:188550 {source="MONDO:equivalentTo", source="DC:0000711"}
xref: Orphanet:319494 {source="MONDO:equivalentTo"}
xref: UMLS:C3501843 {source="MONDO:equivalentTo"}
xref: UMLS:CN227216 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015075 {source="MONDOLEX:0017896", source="Orphanet:319494"} ! thyroid gland carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227216
property_value: exactMatch Orphanet:319494

[Term]
id: MONDO:0017897
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
def: "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." [Orphanet:319535]
subset: ordo_group_of_disorders {source="Orphanet:319535"}
subset: predisposition
synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535]
synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:D84.8 {source="ORDO:319535/attributed", source="ORDO:319535/ntbt", source="Orphanet:319535"}
xref: Orphanet:319535 {source="MONDO:equivalentTo"}
xref: UMLS:CN203953 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020636 ! mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203953
property_value: exactMatch Orphanet:319535

[Term]
id: MONDO:0017898
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
def: "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:319539"}
subset: predisposition
synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539]
synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:D84.8 {source="Orphanet:319539", source="ORDO:319539/attributed", source="ORDO:319539/ntbt"}
xref: Orphanet:319539 {source="MONDO:equivalentTo"}
xref: UMLS:CN203954 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020637 ! mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203954
property_value: exactMatch Orphanet:319539

[Term]
id: MONDO:0017899
name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
def: "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." [Orphanet:319543]
subset: ordo_group_of_disorders {source="Orphanet:319543"}
subset: predisposition
synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543]
synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:D84.8 {source="ORDO:319543/attributed", source="ORDO:319543/ntbt", source="Orphanet:319543"}
xref: Orphanet:319543 {source="MONDO:equivalentTo"}
xref: UMLS:CN203955 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020637 ! mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203955
property_value: exactMatch Orphanet:319543

[Term]
id: MONDO:0017900
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
def: "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319547]
subset: ordo_disease {source="Orphanet:319547"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2" EXACT []
synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547]
synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [Orphanet:319547]
synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547]
xref: ICD10:D84.8 {source="ORDO:319547/attributed", source="ORDO:319547/ntbt", source="Orphanet:319547"}
xref: Orphanet:319547 {source="MONDO:equivalentTo"}
xref: UMLS:CN203956 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0013953 {source="ORDO:319547/ntbt"} ! immunodeficiency 28
is_a: MONDO:0017897 {source="Orphanet:319547"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203956
property_value: exactMatch Orphanet:319547

[Term]
id: MONDO:0017901
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
def: "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319569]
subset: ordo_disease {source="Orphanet:319569"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT []
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569]
synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319569]
synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569]
synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10:D84.8 {source="ORDO:319569/attributed", source="ORDO:319569/ntbt", source="Orphanet:319569"}
xref: Orphanet:319569 {source="MONDO:equivalentTo"}
xref: UMLS:CN203960 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008856 ! immunodeficiency 27A
is_a: MONDO:0017898 {source="Orphanet:319569"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203960
property_value: exactMatch Orphanet:319569

[Term]
id: MONDO:0017902
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
def: "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319574]
subset: ordo_disease {source="Orphanet:319574"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT []
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574]
synonym: "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319574]
synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574]
synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10:D84.8 {source="ORDO:319574/attributed", source="ORDO:319574/ntbt", source="Orphanet:319574"}
xref: Orphanet:319574 {source="MONDO:equivalentTo"}
xref: UMLS:CN203961 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0013953 {source="ORDO:319547/ntbt"} ! immunodeficiency 28
is_a: MONDO:0017898 {source="Orphanet:319574"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203961
property_value: exactMatch Orphanet:319574

[Term]
id: MONDO:0017903
name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
def: "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319589]
subset: ordo_disease {source="Orphanet:319589"}
subset: predisposition
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT []
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589]
synonym: "autosomal dominant MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319589]
synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589]
synonym: "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10:D84.8 {source="Orphanet:319589", source="ORDO:319589/attributed", source="ORDO:319589/ntbt"}
xref: Orphanet:319589 {source="MONDO:equivalentTo"}
xref: UMLS:CN203963 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017899 {source="Orphanet:319589"} ! autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203963
property_value: exactMatch Orphanet:319589

[Term]
id: MONDO:0017904
name: steroid dehydrogenase deficiency-dental anomalies syndrome
def: "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." [Orphanet:3196]
subset: ordo_disease {source="Orphanet:3196"}
synonym: "Lyngstadaas syndrome" EXACT [Orphanet:3196]
synonym: "severe dental aberrations in familial steroid dehydrogenase deficiency" RELATED [GARD:0005015]
synonym: "steroid dehydrogenase deficiency dental anomalies" RELATED [GARD:0005015]
xref: GARD:0005015 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="Orphanet:3196", source="ORDO:3196/attributed", source="ORDO:3196/ntbt"}
xref: MESH:C537490 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3196 {source="MONDO:equivalentTo"}
xref: SCTID:723583009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931508 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:3196"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015336 {source="Orphanet:3196"} ! malformation syndrome with odontal and/or periodontal component
property_value: exactMatch http://identifiers.org/mesh/C537490
property_value: exactMatch http://identifiers.org/snomedct/723583009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931508
property_value: exactMatch Orphanet:3196

[Term]
id: MONDO:0017905
name: X-linked mendelian susceptibility to mycobacterial diseases
def: "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." [Orphanet:319605]
subset: ordo_disease {source="Orphanet:319605"}
subset: predisposition
synonym: "mendelian susceptibility to mycobacterial diseases, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked MSMD" EXACT [Orphanet:319605]
xref: ICD10:D84.8 {source="Orphanet:319605", source="ORDO:319605/attributed", source="ORDO:319605/ntbt"}
xref: Orphanet:319605 {source="MONDO:equivalentTo"}
xref: SCTID:719814009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304413 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:CN203967 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0019146 {source="MONDO:Redundant", source="Orphanet:319605"} ! inherited susceptibility to mycobacterial diseases
property_value: exactMatch http://identifiers.org/snomedct/719814009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203967
property_value: exactMatch Orphanet:319605

[Term]
id: MONDO:0017906
name: amyloidosis cutis dyschromia
def: "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." [Orphanet:319635]
subset: ordo_disease {source="Orphanet:319635"}
synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635]
xref: ICD10:E85.4+ {source="ORDO:319635/ntbt", source="Orphanet:319635"}
xref: ICD10:L99.0* {source="ORDO:319635/ntbt", source="Orphanet:319635"}
xref: Orphanet:319635 {source="MONDO:equivalentTo"}
is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis
property_value: exactMatch Orphanet:319635

[Term]
id: MONDO:0017907
name: primary lymphoma of the conjunctiva
def: "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." [Orphanet:319667]
subset: ordo_disease {source="Orphanet:319667"}
synonym: "conjunctiva lymphoma" EXACT [MONDO:patterns/location]
synonym: "conjunctiva primary organ-specific lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of conjunctiva" EXACT []
synonym: "primary lymphoid conjunctival tumor" EXACT [Orphanet:319667]
synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern]
xref: ICD10:C85.7 {source="ORDO:319667/ntbt", source="Orphanet:319667"}
xref: Orphanet:319667 {source="MONDO:equivalentTo"}
xref: SCTID:763477007 {source="MONDO:equivalentTo"}
xref: UMLS:CN203974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003454 ! conjunctival cancer
is_a: MONDO:0004034 ! eye lymphoma
is_a: MONDO:0017207 {source="MONDO:Redundant", source="Orphanet:319667"} ! primary organ-specific lymphoma
property_value: exactMatch http://identifiers.org/snomedct/763477007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203974
property_value: exactMatch Orphanet:319667

[Term]
id: MONDO:0017908
name: obsolete hyperekplexia
is_obsolete: true
replaced_by: MONDO:0017658

[Term]
id: MONDO:0017909
name: inherited glutathione synthetase deficiency
def: "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." [Orphanet:32]
subset: ordo_disease {source="Orphanet:32"}
synonym: "5-oxoprolinuria" EXACT [NCIT:C128193]
synonym: "glutathione synthetase deficiency" EXACT [NCIT:C128193]
synonym: "glutathione synthetase deficiency" RELATED [NCIT:C128193]
synonym: "GSSD" EXACT [NCIT:C128193]
synonym: "inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutathione synthase activity disorder" EXACT []
synonym: "oxoprolinase deficiency" RELATED [GARD:0010047]
synonym: "pyroglutamic aciduria" EXACT [NCIT:C128193]
synonym: "pyroglutamicaciduria" EXACT [Orphanet:32]
synonym: "rare inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glutathione synthase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:0010047 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D55.1 {source="Orphanet:32", source="ORDO:32/attributed", source="ORDO:32/ntbt"}
xref: MESH:C536835 {source="Orphanet:32", source="ORDO:32/e", source="MONDO:equivalentTo"}
xref: NCIT:C128193 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.79/2.07"}
xref: Orphanet:32 {source="MONDO:equivalentTo"}
xref: SCTID:234589002 {source="MONDO:kboom-pr-0.91/0.82/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0398746 {source="Orphanet:32", source="ORDO:32/e", source="MONDO:equivalentTo", source="NCIT:C128193"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0020105 {source="Orphanet:32"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment
is_a: MONDO:0040566 ! inherited glutathione metabolism disease
property_value: exactMatch http://identifiers.org/mesh/C536835
property_value: exactMatch http://identifiers.org/snomedct/234589002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398746
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291643
property_value: exactMatch NCIT:C128193
property_value: exactMatch Orphanet:32

[Term]
id: MONDO:0017910
name: dehydrated hereditary stomatocytosis
def: "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." [Orphanet:3202]
subset: gard_rare
subset: ordo_disease {source="Orphanet:3202"}
synonym: "Desiccytosis hereditary" RELATED [GARD:0005623]
synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202]
synonym: "xerocytosis hereditary" RELATED [GARD:0005623]
xref: DC:0000714 {source="MONDO:equivalentTo"}
xref: GARD:0005623 {source="MONDO:equivalentTo"}
xref: ICD10:D58.8 {source="Orphanet:3202", source="ORDO:3202/attributed", source="ORDO:3202/ntbt"}
xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"}
xref: SCTID:715526002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.80"}
is_a: MONDO:0020102 {source="Orphanet:3202", source="linkedlifedata"} ! hereditary stomatocytosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272051
property_value: exactMatch http://identifiers.org/snomedct/715526002
property_value: exactMatch Orphanet:3202

[Term]
id: MONDO:0017911
name: cleft lip/palate-ectodermal dysplasia syndrome
subset: ordo_group_of_disorders {source="Orphanet:320317"}
synonym: "CLEPD" EXACT [Orphanet:320317]
xref: Orphanet:320317 {source="MONDO:equivalentTo"}
xref: UMLS:CN229116 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDOLEX:0017911", source="Orphanet:320317"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229116
property_value: exactMatch Orphanet:320317

[Term]
id: MONDO:0017912
name: X-linked pure spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320332"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320332", source="ORDO:320332/attributed", source="ORDO:320332/ntbt"}
xref: Orphanet:320332 {source="MONDO:equivalentTo"}
is_a: MONDO:0015149 {source="Orphanet:320332"} ! pure hereditary spastic paraplegia
property_value: exactMatch Orphanet:320332

[Term]
id: MONDO:0017913
name: pure or complex hereditary spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320335"}
synonym: "Pure or complex familial spastic paraplegia" EXACT [Orphanet:320335]
synonym: "Pure or complicated familial spastic paraplegia" EXACT [Orphanet:320335]
synonym: "Pure or complicated hereditary spastic paraplegia" EXACT [Orphanet:320335]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320335/attributed", source="ORDO:320335/ntbt", source="Orphanet:320335"}
xref: Orphanet:320335 {source="MONDO:equivalentTo"}
xref: UMLS:CN227219 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="MONDOLEX:0017913", source="Orphanet:320335"} ! hereditary spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227219
property_value: exactMatch Orphanet:320335

[Term]
id: MONDO:0017914
name: pure or complex autosomal dominant spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320342"}
synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:320342", source="ORDO:320342/attributed", source="ORDO:320342/ntbt"}
xref: Orphanet:320342 {source="MONDO:equivalentTo"}
is_a: MONDO:0017913 {source="Orphanet:320342"} ! pure or complex hereditary spastic paraplegia
property_value: exactMatch Orphanet:320342

[Term]
id: MONDO:0017915
name: pure or complex autosomal recessive spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320346"}
synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320346/attributed", source="ORDO:320346/ntbt", source="Orphanet:320346"}
xref: Orphanet:320346 {source="MONDO:equivalentTo"}
is_a: MONDO:0017913 {source="Orphanet:320346"} ! pure or complex hereditary spastic paraplegia
property_value: exactMatch Orphanet:320346

[Term]
id: MONDO:0017916
name: pure or complex X-linked spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320350"}
synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320350/attributed", source="ORDO:320350/ntbt", source="Orphanet:320350"}
xref: Orphanet:320350 {source="MONDO:equivalentTo"}
is_a: MONDO:0017913 {source="Orphanet:320350"} ! pure or complex hereditary spastic paraplegia
property_value: exactMatch Orphanet:320350

[Term]
id: MONDO:0017917
name: maternally-inherited spastic paraplegia
subset: ordo_disease {source="Orphanet:320360"}
synonym: "maternally-inherited SPG" EXACT [Orphanet:320360]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:320360/attributed", source="ORDO:320360/ntbt", source="Orphanet:320360"}
xref: Orphanet:320360 {source="MONDO:equivalentTo"}
is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic paraplegia
property_value: exactMatch Orphanet:320360

[Term]
id: MONDO:0017918
name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
def: "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter , and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy , or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome , Andermann syndrome and Apert syndrome , trisomies 13 , 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." [https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome]
subset: gard_rare {source="GARD:0005560"}
subset: ordo_malformation_syndrome {source="Orphanet:3207"}
synonym: "Curatolo Cilio Pessagno syndrome" RELATED [GARD:0005560]
synonym: "Curatolo-Cilio-Pessagno syndrome" EXACT [Orphanet:3207]
synonym: "familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency" RELATED [GARD:0005560]
xref: GARD:0005560 {source="MONDO:equivalentTo"}
xref: MESH:C536701 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3207 {source="MONDO:equivalentTo"}
xref: UMLS:C2931292 {source="MONDO:equivalentTo", source="Orphanet:3207", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000508 {source="Orphanet:3207"} ! syndromic intellectual disability
is_a: MONDO:0016055 {source="Orphanet:3207"} ! syndrome with corpus callosum agenesis /dysgenesis as a major feature
property_value: exactMatch http://identifiers.org/mesh/C536701
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931292
property_value: exactMatch Orphanet:3207
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome xsd:anyURI {source="GARD:0005560"}

[Term]
id: MONDO:0017919
name: bladder exstrophy-epispadias-cloacal exstrophy complex
def: "Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." [Orphanet:322]
subset: ordo_malformation_syndrome {source="Orphanet:322"}
synonym: "BEEC" EXACT [Orphanet:322]
synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" EXACT [Orphanet:322]
synonym: "EEC" EXACT [Orphanet:322]
synonym: "exstrophy-epispadias complex" EXACT [DOID:0080173]
xref: DOID:0080173 {source="MONDO:equivalentTo"}
xref: GARD:0002207 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q64.1 {source="ORDO:322/attributed", source="ORDO:322/ntbt", source="Orphanet:322"}
xref: Orphanet:322 {source="DOID:0080173", source="MONDO:equivalentTo"}
xref: UMLS:C1838703 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:322"}
is_a: MONDO:0019356 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! urogenital tract malformation
is_a: MONDO:0019719 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! congenital anomaly of kidney and urinary tract
is_a: MONDO:0020021 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0015215 {source="Orphanet:322"} ! non-syndromic diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:322"} ! non-syndromic urogenital tract malformation of male and female
relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:322"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch DOID:0080173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838703
property_value: exactMatch Orphanet:322

[Term]
id: MONDO:0017920
name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
def: "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." [Orphanet:3224]
subset: ordo_malformation_syndrome {source="Orphanet:3224"}
synonym: "Pfeiffer Kapferer syndrome" RELATED [GARD:0004303]
synonym: "Pfeiffer-Kapferer syndrome" EXACT [Orphanet:3224]
synonym: "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5" RELATED [GARD:0004303]
synonym: "short stature, mental retardation and multiple dysmorphisms" RELATED [GARD:0004303]
xref: GARD:0004303 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3224", source="ORDO:3224/attributed", source="ORDO:3224/ntbt"}
xref: MESH:C537887 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3224 {source="MONDO:equivalentTo"}
xref: SCTID:721086004 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:C2931654 {source="Orphanet:3224", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3224", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:3224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015620 {source="Orphanet:3224"} ! syndromic urogenital tract malformation
is_a: MONDO:0019589 {source="Orphanet:3224"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537887
property_value: exactMatch http://identifiers.org/snomedct/721086004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931654
property_value: exactMatch Orphanet:3224

[Term]
id: MONDO:0017921
name: hearing loss-familial salivary gland insensitivity to aldosterone syndrome
def: "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." [Orphanet:3225]
subset: ordo_malformation_syndrome {source="Orphanet:3225"}
synonym: "hearing loss and familial salivary gland insensitivity to aldosterone" RELATED [GARD:0000422]
synonym: "hearing loss insensitivity to aldosterone" RELATED [GARD:0000422]
synonym: "Tungland-Bellman syndrome" EXACT [Orphanet:3225]
synonym: "Tunglang savage Bellman syndrome" RELATED [GARD:0000422]
xref: GARD:0000422 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536927 {source="MONDO:equivalentTo"}
xref: Orphanet:3225 {source="MONDO:equivalentTo"}
xref: SCTID:716239006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0019589 {source="Orphanet:3225"} ! syndromic genetic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931369
property_value: exactMatch http://identifiers.org/mesh/C536927
property_value: exactMatch http://identifiers.org/snomedct/716239006
property_value: exactMatch Orphanet:3225

[Term]
id: MONDO:0017922
name: deafness-onychodystrophy syndrome
def: "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231]
subset: ordo_group_of_disorders {source="Orphanet:3231"}
xref: ICD10:Q87.8 {source="ORDO:3231/attributed", source="ORDO:3231/ntbt", source="Orphanet:3231"}
xref: Orphanet:3231 {source="MONDO:equivalentTo"}
xref: UMLS:CN204041 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0000508 {source="Orphanet:3231"} ! syndromic intellectual disability
is_a: MONDO:0019285 {source="Orphanet:3231"} ! syndromic nail anomaly
is_a: MONDO:0019287 {source="Orphanet:3231"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 {source="Orphanet:3231"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204041
property_value: exactMatch Orphanet:3231

[Term]
id: MONDO:0017923
name: multiple synostoses syndrome
def: "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." [Orphanet:3237]
subset: ordo_malformation_syndrome {source="Orphanet:3237"}
synonym: "deafness-Hermann type symphalangism syndrome" EXACT [Orphanet:3237]
synonym: "facio-audio-symphalangism" EXACT [Orphanet:3237]
synonym: "symphalangism-brachydactyly syndrome" EXACT [Orphanet:3237]
synonym: "WL syndrome" EXACT [Orphanet:3237]
xref: DOID:0050794 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="Orphanet:3237", source="ORDO:3237/attributed", source="ORDO:3237/ntbt"}
xref: OMIMPS:186500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:3237 {source="MONDO:equivalentTo"}
xref: UMLS:CN204052 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019589 {source="Orphanet:3237"} ! syndromic genetic deafness
is_a: MONDO:0019715 {source="Orphanet:3237"} ! syndrome with synostosis or other joint formation defect
property_value: exactMatch DOID:0050794
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204052
property_value: exactMatch Orphanet:3237

[Term]
id: MONDO:0017924
name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome
def: "This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." [Orphanet:3240]
subset: ordo_disease {source="Orphanet:3240"}
synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240]
xref: Orphanet:3240 {source="MONDO:equivalentTo"}
xref: UMLS:CN204056 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:3240"} ! syndromic intellectual disability
is_a: MONDO:0017828 {source="Orphanet:3240"} ! primary renal tubular acidosis
is_a: MONDO:0019589 {source="Orphanet:3240"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204056
property_value: exactMatch Orphanet:3240

[Term]
id: MONDO:0017925
name: T-cell immunodeficiency with epidermodysplasia verruciformis
def: "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." [Orphanet:324294]
subset: ordo_disease {source="Orphanet:324294"}
synonym: "T-cell immunodeficiency due to RHOH deficiency" EXACT [Orphanet:324294]
xref: ICD10:D84.8 {source="ORDO:324294/attributed", source="ORDO:324294/ntbt", source="Orphanet:324294"}
xref: Orphanet:324294 {source="MONDO:equivalentTo"}
xref: UMLS:CN714013 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018033 {source="Orphanet:324294"} ! other immunodeficiency syndromes due to defects in innate immunity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN714013
property_value: exactMatch Orphanet:324294

[Term]
id: MONDO:0017926
name: multiple paragangliomas associated with polycythemia
subset: ordo_clinical_subtype {source="Orphanet:324299"}
synonym: "multiple paragangliomas associated with erythrocytosis" EXACT [Orphanet:324299]
synonym: "paraganglioma-somatostatinoma-polycythemia syndrome" EXACT [Orphanet:324299]
xref: Orphanet:324299 {source="MONDO:equivalentTo"}
xref: UMLS:CN204064 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017190 {source="Orphanet:324299"} ! sporadic pheochromocytoma/secreting paraganglioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204064
property_value: exactMatch Orphanet:324299

[Term]
id: MONDO:0017927
name: severe lateral tibial bowing with short stature
def: "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." [Orphanet:324307]
subset: ordo_disease {source="Orphanet:324307"}
xref: ICD10:Q68.4 {source="ORDO:324307/attributed", source="ORDO:324307/ntbt", source="Orphanet:324307"}
xref: Orphanet:324307 {source="MONDO:equivalentTo"}
xref: SCTID:766819001 {source="MONDO:equivalentTo"}
xref: UMLS:CN204066 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019698 {source="Orphanet:324307"} ! bent bone dysplasia
property_value: exactMatch http://identifiers.org/snomedct/766819001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204066
property_value: exactMatch Orphanet:324307

[Term]
id: MONDO:0017928
name: 9p13 microdeletion syndrome
def: "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." [Orphanet:324313]
subset: ordo_malformation_syndrome {source="Orphanet:324313"}
synonym: "Del(9)(p13)" EXACT [Orphanet:324313]
synonym: "monosomy 9p13" EXACT [Orphanet:324313]
xref: ICD10:Q93.5 {source="Orphanet:324313", source="ORDO:324313/attributed", source="ORDO:324313/ntbt"}
xref: Orphanet:324313 {source="MONDO:equivalentTo"}
xref: SCTID:764725008 {source="MONDO:equivalentTo"}
xref: UMLS:CN204067 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:324313"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016891 {source="Orphanet:324313"} ! partial deletion of the short arm of chromosome 9
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/764725008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204067
property_value: exactMatch Orphanet:324313

[Term]
id: MONDO:0017929
name: congenital achiasma
def: "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." [Orphanet:324353]
subset: ordo_morphological_anomaly {source="Orphanet:324353"}
xref: ICD10:H47.4 {source="MONDO:relatedTo", source="ORDO:324353/attributed", source="ORDO:324353/ntbt", source="Orphanet:324353"}
xref: Orphanet:324353 {source="MONDO:equivalentTo"}
xref: SCTID:734031008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020132 {source="Orphanet:324353"} ! cranial nerve and nuclear aplasia
property_value: exactMatch http://identifiers.org/snomedct/734031008
property_value: exactMatch Orphanet:324353

[Term]
id: MONDO:0017930
name: mixed sclerosing bone dystrophy with extra-skeletal manifestations
subset: ordo_disease {source="Orphanet:324364"}
xref: ICD10:M85.8 {source="ORDO:324364/attributed", source="ORDO:324364/ntbt", source="Orphanet:324364"}
xref: Orphanet:324364 {source="MONDO:equivalentTo"}
is_a: MONDO:0019703 {source="Orphanet:324364"} ! primary bone dysplasia with increased bone density
property_value: exactMatch Orphanet:324364

[Term]
id: MONDO:0017931
name: hereditary inclusion body myopathy type 4
def: "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." [Orphanet:324381]
subset: ordo_disease {source="Orphanet:324381"}
synonym: "HIBM4" EXACT [Orphanet:324381]
xref: ICD10:G71.8 {source="ORDO:324381/attributed", source="ORDO:324381/ntbt", source="Orphanet:324381"}
xref: Orphanet:324381 {source="MONDO:equivalentTo"}
xref: UMLS:CN227223 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016112 {source="Orphanet:324381"} ! inclusion myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227223
property_value: exactMatch Orphanet:324381

[Term]
id: MONDO:0017932
name: muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
subset: ordo_malformation_syndrome {source="Orphanet:324416"}
xref: Orphanet:324416 {source="MONDO:equivalentTo"}
xref: UMLS:CN204070 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:324416"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204070
property_value: exactMatch Orphanet:324416

[Term]
id: MONDO:0017933
name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
def: "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." [Orphanet:324525]
subset: ordo_disease {source="Orphanet:324525"}
synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525]
xref: ICD10:I42.2 {source="Orphanet:324525", source="ORDO:324525/attributed", source="ORDO:324525/ntbt"}
xref: Orphanet:324525 {source="MONDO:equivalentTo"}
xref: UMLS:CN204073 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016327 {source="Orphanet:324525"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016793 {source="Orphanet:324525"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0017828 {source="Orphanet:324525"} ! primary renal tubular acidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204073
property_value: exactMatch Orphanet:324525

[Term]
id: MONDO:0017934
name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
def: "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." [Orphanet:324540]
subset: ordo_malformation_syndrome {source="Orphanet:324540"}
synonym: "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540]
synonym: "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540]
xref: ICD10:Q87.0 {source="ORDO:324540/attributed", source="ORDO:324540/ntbt", source="Orphanet:324540"}
xref: Orphanet:324540 {source="MONDO:equivalentTo"}
xref: UMLS:CN204076 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324540", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:324540"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204076
property_value: exactMatch Orphanet:324540

[Term]
id: MONDO:0017935
name: hyperinsulinism due to HNF1A deficiency
def: "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life." [Orphanet:324575]
subset: ordo_disease {source="Orphanet:324575"}
synonym: "hyperinsulinemic hypoglycemia due to HNF1A deficiency" EXACT [Orphanet:324575]
xref: ICD10:E16.1 {source="Orphanet:324575", source="ORDO:324575/attributed", source="ORDO:324575/ntbt"}
xref: Orphanet:324575 {source="MONDO:equivalentTo"}
xref: SCTID:721234004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4303475 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015624 {source="Orphanet:324575"} ! diazoxide-sensitive diffuse hyperinsulinism
property_value: exactMatch http://identifiers.org/snomedct/721234004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303475
property_value: exactMatch Orphanet:324575

[Term]
id: MONDO:0017936
name: benign Samaritan congenital myopathy
def: "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." [Orphanet:324581]
subset: ordo_disease {source="Orphanet:324581"}
xref: ICD10:G71.2 {source="ORDO:324581/attributed", source="ORDO:324581/ntbt", source="Orphanet:324581"}
xref: Orphanet:324581 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy
property_value: exactMatch Orphanet:324581

[Term]
id: MONDO:0017937
name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
subset: ordo_disease {source="Orphanet:324585"}
xref: ICD10:G60.0 {source="ORDO:324585/attributed", source="ORDO:324585/ntbt", source="Orphanet:324585"}
xref: Orphanet:324585 {source="MONDO:equivalentTo"}
xref: UMLS:CN204081 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019548 {source="MONDOLEX:0017937", source="Orphanet:324585"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204081
property_value: exactMatch Orphanet:324585

[Term]
id: MONDO:0017938
name: X-linked cleft palate with or without ankyloglossia
def: "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." [Orphanet:324601]
subset: ordo_malformation_syndrome {source="Orphanet:324601"}
synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, ORDO:324601]
xref: DOID:0060613 {source="MONDO:equivalentTo"}
xref: ICD10:Q35.9 {source="Orphanet:324601", source="ORDO:324601/attributed", source="ORDO:324601/ntbt"}
xref: Orphanet:324601 {source="MONDO:equivalentTo", source="DOID:0060613"}
xref: SCTID:766761000 {source="MONDO:equivalentTo"}
is_a: MONDO:0010560 {source="MONDOLEX:0017938"} ! cleft palate with or without ankyloglossia, X-linked
is_a: MONDO:0015335 {source="Orphanet:324601"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: exactMatch DOID:0060613
property_value: exactMatch http://identifiers.org/snomedct/766761000
property_value: exactMatch Orphanet:324601

[Term]
id: MONDO:0017939
name: classic multiminicore myopathy
subset: ordo_clinical_subtype {source="Orphanet:324604"}
synonym: "classic MmD" EXACT [Orphanet:324604]
synonym: "classic multiminicore disease" EXACT [Orphanet:324604]
xref: ICD10:G71.2 {source="ORDO:324604/attributed", source="ORDO:324604/ntbt", source="Orphanet:324604"}
xref: Orphanet:324604 {source="MONDO:equivalentTo"}
xref: UMLS:CN204085 {source="MONDO:equivalentTo"}
is_a: MONDO:0018948 {source="Orphanet:324604"} ! multiminicore myopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204085
property_value: exactMatch Orphanet:324604

[Term]
id: MONDO:0017940
name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." [Orphanet:324611]
subset: ordo_disease {source="Orphanet:324611"}
synonym: "CMT2 due to KIF5A mutation" EXACT [Orphanet:324611]
xref: ICD10:G60.0 {source="Orphanet:324611", source="ORDO:324611/attributed", source="ORDO:324611/ntbt"}
xref: Orphanet:324611 {source="MONDO:equivalentTo"}
xref: SCTID:764730007 {source="MONDO:equivalentTo"}
xref: UMLS:CN204086 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018993 {source="Orphanet:324611"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch http://identifiers.org/snomedct/764730007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204086
property_value: exactMatch Orphanet:324611

[Term]
id: MONDO:0017941
name: chikungunya
def: "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." [NCIT:C128422]
subset: gard_rare {source="GARD:0006038"}
subset: ordo_disease {source="Orphanet:324625"}
synonym: "arbovirus A Chikungunya type" RELATED [GARD:0006038]
synonym: "CHIK" RELATED [GARD:0006038]
synonym: "Chikungunya fever" EXACT [DOID:0050012]
synonym: "Chikungunya virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chikungunya virus disease or disorder" EXACT []
synonym: "Chikungunya virus infection" RELATED [GARD:0006038]
synonym: "Chikungunya virus infectious disease" EXACT []
synonym: "CHIKV infection" RELATED [GARD:0006038]
synonym: "CK" RELATED [GARD:0006038]
xref: DOID:0050012 {source="MONDO:equivalentTo"}
xref: GARD:0006038 {source="MONDO:equivalentTo"}
xref: ICD10:A92.0 {source="ORDO:324625/e", source="Orphanet:324625"}
xref: MESH:D065632 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128422 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:324625 {source="MONDO:equivalentTo"}
xref: SCTID:111864006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0008055 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C128422", source="MONDO:equivalentTo", source="Orphanet:324625"}
is_a: MONDO:0005643 ! Alphavirus infectious disease
is_a: MONDO:0018093 {source="Orphanet:324625"} ! arbovirus fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease)
property_value: exactMatch DOID:0050012
property_value: exactMatch http://identifiers.org/mesh/D065632
property_value: exactMatch http://identifiers.org/snomedct/111864006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008055
property_value: exactMatch NCIT:C128422
property_value: exactMatch Orphanet:324625
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6038/chikungunya xsd:anyURI {source="GARD:0006038"}

[Term]
id: MONDO:0017942
name: Hendra virus infection
def: "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported." [Orphanet:324632]
subset: ordo_disease {source="Orphanet:324632"}
synonym: "Hendra henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hendra henipavirus disease or disorder" EXACT []
synonym: "Hendra henipavirus infectious disease" EXACT []
xref: ICD10:B33.8 {source="Orphanet:324632", source="ORDO:324632/ntbt"}
xref: Orphanet:324632 {source="MONDO:equivalentTo"}
is_a: MONDO:0005785 ! henipavirus infectious disease
is_a: MONDO:0006009 ! viral encephalitis
property_value: exactMatch Orphanet:324632

[Term]
id: MONDO:0017943
name: autoerythrocyte sensitization syndrome
subset: ordo_disease {source="Orphanet:324636"}
synonym: "Autoerythrocyte sensitization" RELATED [GARD:0006481]
synonym: "Autoerythrocyte sensitization purpura" RELATED [GARD:0006481]
synonym: "Gardner-Diamond syndrome" EXACT [Orphanet:324636]
synonym: "GDS" EXACT [Orphanet:324636]
synonym: "painful bruising syndrome" EXACT [Orphanet:324636]
synonym: "psychogenic purpura" EXACT [Orphanet:324636]
xref: GARD:0006481 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D69.2 {source="ORDO:324636/ntbt", source="Orphanet:324636"}
xref: ICD9:287.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535645 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:324636 {source="MONDO:equivalentTo"}
xref: SCTID:275446004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0301928 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:324636"}
is_a: MONDO:0017841 {source="Orphanet:324636"} ! autoimmune disease with skin involvement
property_value: exactMatch http://identifiers.org/mesh/C535645
property_value: exactMatch http://identifiers.org/snomedct/275446004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0301928
property_value: exactMatch Orphanet:324636

[Term]
id: MONDO:0017944
name: invasive non-typhoidal salmonellosis
def: "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed." [Orphanet:324648]
subset: ordo_disease {source="Orphanet:324648"}
synonym: "iNTS disease" EXACT [Orphanet:324648]
synonym: "invasive non-typhoidal salmonella disease" EXACT [Orphanet:324648]
xref: ICD10:A02.0 {source="ORDO:324648/btnt", source="Orphanet:324648"}
xref: ICD10:A02.1 {source="ORDO:324648/btnt", source="Orphanet:324648"}
xref: ICD10:A02.2 {source="ORDO:324648/btnt", source="Orphanet:324648"}
xref: ICD10:A02.8 {source="ORDO:324648/btnt", source="Orphanet:324648"}
xref: ICD10:A02.9 {source="ORDO:324648/btnt", source="Orphanet:324648"}
xref: Orphanet:324648 {source="MONDO:equivalentTo"}
xref: SCTID:763772002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000827 {source="Orphanet:324648"} ! salmonellosis
property_value: exactMatch http://identifiers.org/snomedct/763772002
property_value: exactMatch Orphanet:324648

[Term]
id: MONDO:0017945
name: ABetaL34V amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." [Orphanet:324703]
subset: ordo_clinical_subtype {source="Orphanet:324703"}
synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703]
synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703]
synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703]
xref: ICD10:E85.4+ {source="ORDO:324703/attributed", source="ORDO:324703/ntbt", source="Orphanet:324703"}
xref: ICD10:I68.0* {source="ORDO:324703/attributed", source="ORDO:324703/ntbt", source="Orphanet:324703"}
xref: Orphanet:324703 {source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch Orphanet:324703

[Term]
id: MONDO:0017946
name: ABeta amyloidosis, Iowa type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." [Orphanet:324708]
subset: ordo_clinical_subtype {source="Orphanet:324708"}
synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708]
synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714]
synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708]
xref: ICD10:E85.4+ {source="ORDO:324708/attributed", source="ORDO:324708/ntbt", source="Orphanet:324708"}
xref: ICD10:I68.0* {source="ORDO:324708/attributed", source="ORDO:324708/ntbt", source="Orphanet:324708"}
xref: Orphanet:324708 {source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch Orphanet:324708

[Term]
id: MONDO:0017947
name: ABeta amyloidosis, Italian type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." [Orphanet:324713]
subset: ordo_clinical_subtype {source="Orphanet:324713"}
synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713]
synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714]
synonym: "HCHWA, Italian type" EXACT [Orphanet:324713]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713]
xref: ICD10:E85.4+ {source="ORDO:324713/attributed", source="ORDO:324713/ntbt", source="Orphanet:324713"}
xref: ICD10:I68.0* {source="ORDO:324713/attributed", source="ORDO:324713/ntbt", source="Orphanet:324713"}
xref: Orphanet:324713 {source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch Orphanet:324713

[Term]
id: MONDO:0017948
name: ABetaA21G amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." [Orphanet:324718]
subset: ordo_clinical_subtype {source="Orphanet:324718"}
synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718]
synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718]
synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028]
synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718]
xref: ICD10:E85.4+ {source="ORDO:324718/attributed", source="ORDO:324718/ntbt", source="Orphanet:324718"}
xref: ICD10:I68.0* {source="ORDO:324718/attributed", source="ORDO:324718/ntbt", source="Orphanet:324718"}
xref: Orphanet:324718 {source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch Orphanet:324718

[Term]
id: MONDO:0017949
name: ABeta amyloidosis, Arctic type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." [Orphanet:324723]
subset: ordo_clinical_subtype {source="Orphanet:324723"}
synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723]
synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028]
synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723]
xref: ICD10:E85.4+ {source="Orphanet:324723", source="ORDO:324723/attributed", source="ORDO:324723/ntbt"}
xref: ICD10:I68.0* {source="Orphanet:324723", source="ORDO:324723/attributed", source="ORDO:324723/ntbt"}
xref: Orphanet:324723 {source="MONDO:equivalentTo"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related
property_value: exactMatch Orphanet:324723

[Term]
id: MONDO:0017950
name: microcephalic primordial dwarfism
subset: ordo_group_of_disorders {source="Orphanet:324761"}
xref: DC:0000561 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.1 {source="ORDO:324761/attributed", source="ORDO:324761/ntbt", source="Orphanet:324761"}
xref: Orphanet:324761 {source="MONDO:equivalentTo"}
xref: UMLS:CN437676 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324761", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:324761"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:324761"} ! syndrome with microcephaly as major feature
is_a: MONDO:0019699 {source="Orphanet:324761"} ! slender bone dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN437676
property_value: exactMatch Orphanet:324761

[Term]
id: MONDO:0017951
name: trichorhinophalangeal syndrome
subset: ordo_group_of_disorders {source="Orphanet:324764"}
synonym: "TRPS" EXACT [MONDO:Lexical]
xref: ICD10:Q87.8 {source="Orphanet:324764", source="ORDO:324764/attributed", source="ORDO:324764/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:190350 {source="MONDO:equivalentTo"}
xref: Orphanet:324764 {source="MONDO:equivalentTo"}
xref: SCTID:18077009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0265255 {source="Orphanet:324764", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:324764"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019695 {source="Orphanet:324764"} ! acromelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/18077009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265255
property_value: exactMatch Orphanet:324764

[Term]
id: MONDO:0017952
name: non-familial rare disease with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:324767"}
xref: Orphanet:324767 {source="MONDO:equivalentTo"}
xref: UMLS:CN204097 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016338 {source="Orphanet:324767"} ! non-familial dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204097
property_value: exactMatch Orphanet:324767

[Term]
id: MONDO:0017953
name: hereditary periodic fever syndrome
def: "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:324924"}
synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary]
xref: ICD10:E85.0 {source="ORDO:324924/attributed", source="ORDO:324924/ntbt", source="Orphanet:324924"}
xref: MESH:D056660 {source="MONDO:equivalentTo"}
xref: Orphanet:324924 {source="MONDO:equivalentTo"}
xref: UMLS:CN204099 {source="MONDO:equivalentTo"}
is_a: MONDO:0015137 {source="MONDO:Redundant", source="Orphanet:324924"} ! periodic fever syndrome
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:324924"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0015137 ! periodic fever syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D056660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204099
property_value: exactMatch Orphanet:324924

[Term]
id: MONDO:0017954
name: pyogenic autoinflammatory syndrome
subset: ordo_group_of_disorders {source="Orphanet:324927"}
xref: Orphanet:324927 {source="MONDO:equivalentTo"}
xref: UMLS:CN204100 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019751 {source="MONDOLEX:0017954", source="Orphanet:324927"} ! autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204100
property_value: exactMatch Orphanet:324927

[Term]
id: MONDO:0017955
name: granulomatous autoinflammatory syndrome
subset: ordo_group_of_disorders {source="Orphanet:324930"}
xref: Orphanet:324930 {source="MONDO:equivalentTo"}
xref: UMLS:CN204101 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019751 {source="MONDOLEX:0017955", source="Orphanet:324930"} ! autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204101
property_value: exactMatch Orphanet:324930

[Term]
id: MONDO:0017956
name: mixed autoinflammatory and autoimmune syndrome
subset: ordo_group_of_disorders {source="Orphanet:324933"}
xref: Orphanet:324933 {source="MONDO:equivalentTo"}
xref: UMLS:CN204102 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017133 {source="Orphanet:324933"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019751 {source="Orphanet:324933"} ! autoinflammatory syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204102
property_value: exactMatch Orphanet:324933

[Term]
id: MONDO:0017957
name: unclassified autoinflammatory syndrome
subset: ordo_group_of_disorders {source="Orphanet:324936"}
xref: Orphanet:324936 {source="MONDO:equivalentTo"}
xref: UMLS:CN204103 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019751 {source="MONDOLEX:0017957", source="Orphanet:324936"} ! autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204103
property_value: exactMatch Orphanet:324936

[Term]
id: MONDO:0017958
name: magic syndrome
subset: ordo_disease {source="Orphanet:324972"}
synonym: "mouth and genital ulcers with inflamed cartilage" EXACT [Orphanet:324972]
xref: GARD:0013371 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:324972 {source="MONDO:equivalentTo"}
xref: UMLS:CN204105 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017957 {source="Orphanet:324972"} ! unclassified autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204105
property_value: exactMatch Orphanet:324972

[Term]
id: MONDO:0017959
name: obsolete JMP syndrome
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0017960
name: obsolete CANDLE syndrome
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1271 xsd:string
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0017961
name: 46,XX disorder of gonadal development
subset: ordo_group_of_disorders {source="Orphanet:325055"}
xref: Orphanet:325055 {source="MONDO:equivalentTo"}
xref: UMLS:CN227225 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017576 {source="Orphanet:325055"} ! 46,XX disorder of sex development
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227225
property_value: exactMatch Orphanet:325055

[Term]
id: MONDO:0017962
name: 46,XX disorder of sex development induced by fetoplacental androgens excess
subset: ordo_group_of_disorders {source="Orphanet:325061"}
synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061]
xref: Orphanet:325061 {source="MONDO:equivalentTo"}
xref: UMLS:CN227226 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020039 {source="Orphanet:325061"} ! 46,XX disorder of sex development induced by androgens excess
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227226
property_value: exactMatch Orphanet:325061

[Term]
id: MONDO:0017963
name: 46,XX disorder of sex development induced by endogenous maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:325093"}
synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093]
xref: ICD10:Q56.2 {source="ORDO:325093/ntbt", source="Orphanet:325093"}
xref: Orphanet:325093 {source="MONDO:equivalentTo"}
xref: UMLS:CN227227 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019608 {source="Orphanet:325093"} ! 46,XX disorder of sex development induced by maternal-derived androgen
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227227
property_value: exactMatch Orphanet:325093

[Term]
id: MONDO:0017964
name: 46,XX disorder of sex development induced by exogenous maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:325099"}
synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099]
xref: ICD10:Q56.2 {source="ORDO:325099/ntbt", source="Orphanet:325099"}
xref: Orphanet:325099 {source="MONDO:equivalentTo"}
xref: UMLS:CN227228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019608 {source="Orphanet:325099"} ! 46,XX disorder of sex development induced by maternal-derived androgen
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227228
property_value: exactMatch Orphanet:325099

[Term]
id: MONDO:0017965
name: syndrome with 46,XX disorder of sex development
subset: ordo_group_of_disorders {source="Orphanet:325109"}
synonym: "syndrome with 46,XX DSD" EXACT [Orphanet:325109]
xref: Orphanet:325109 {source="MONDO:equivalentTo"}
xref: UMLS:CN204115 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017576 {source="MONDOLEX:0017965", source="Orphanet:325109"} ! 46,XX disorder of sex development
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204115
property_value: exactMatch Orphanet:325109

[Term]
id: MONDO:0017966
name: 46,XY disorder of gonadal development
subset: ordo_group_of_disorders {source="Orphanet:325118"}
xref: Orphanet:325118 {source="MONDO:equivalentTo"}
xref: UMLS:CN227229 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020040 {source="Orphanet:325118"} ! 46,XY disorder of sex development
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227229
property_value: exactMatch Orphanet:325118

[Term]
id: MONDO:0017967
name: testicular agenesis
subset: ordo_morphological_anomaly {source="Orphanet:325124"}
synonym: "absence of testes" RELATED [GARD:0005819]
synonym: "anorchia" RELATED [GARD:0005819]
synonym: "bilateral anorchia" EXACT [Orphanet:325124]
synonym: "congenital absence of testes" RELATED [GARD:0005819]
synonym: "empty scrotum" RELATED [GARD:0005819]
xref: GARD:0005819 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q55.0 {source="ORDO:325124/attributed", source="ORDO:325124/ntbt", source="Orphanet:325124"}
xref: Orphanet:325124 {source="MONDO:equivalentTo"}
xref: SCTID:371015003 {source="MONDO:equivalentTo"}
is_a: MONDO:0017966 {source="Orphanet:325124"} ! 46,XY disorder of gonadal development
is_a: MONDO:0020090 {source="Orphanet:325124"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/snomedct/371015003
property_value: exactMatch Orphanet:325124

[Term]
id: MONDO:0017968
name: 46,XY ovotesticular disorder of sex development
def: "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated." [Orphanet:325345]
subset: ordo_disease {source="Orphanet:325345"}
synonym: "46,XY ovotesticular DSD" EXACT [Orphanet:325345]
xref: Orphanet:325345 {source="MONDO:equivalentTo"}
xref: SCTID:763683004 {source="MONDO:equivalentTo"}
xref: UMLS:CN227231 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017966 {source="Orphanet:325345"} ! 46,XY disorder of gonadal development
is_a: MONDO:0020038 {source="Orphanet:325345"} ! gonadal dysgenesis of gynecological interest
property_value: exactMatch http://identifiers.org/snomedct/763683004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227231
property_value: exactMatch Orphanet:325345

[Term]
id: MONDO:0017969
name: 46,XY disorder of sex development of endocrine origin
subset: ordo_group_of_disorders {source="Orphanet:325351"}
synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351]
xref: Orphanet:325351 {source="MONDO:equivalentTo"}
xref: UMLS:CN227232 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020040 {source="MONDOLEX:0017969", source="Orphanet:325351"} ! 46,XY disorder of sex development
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227232
property_value: exactMatch Orphanet:325351

[Term]
id: MONDO:0017970
name: 46,XY disorder of sex development due to impaired androgen production
subset: ordo_group_of_disorders {source="Orphanet:325357"}
synonym: "46,XY DSD due to impaired androgen production" EXACT [Orphanet:325357]
xref: Orphanet:325357 {source="MONDO:equivalentTo"}
xref: UMLS:CN227233 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017969 {source="Orphanet:325357"} ! 46,XY disorder of sex development of endocrine origin
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227233
property_value: exactMatch Orphanet:325357

[Term]
id: MONDO:0017971
name: 46,XY disorder of sex development due to a cholesterol synthesis defect
subset: ordo_group_of_disorders {source="Orphanet:325511"}
synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [Orphanet:325511]
xref: Orphanet:325511 {source="MONDO:equivalentTo"}
xref: UMLS:CN227234 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019594 {source="Orphanet:325511"} ! 46,XY disorder of sex development due to a testosterone synthesis defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227234
property_value: exactMatch Orphanet:325511

[Term]
id: MONDO:0017972
name: classic congenital lipoid adrenal hyperplasia due to STAR deficency
subset: ordo_clinical_subtype {source="Orphanet:325524"}
synonym: "classic CLAH" EXACT [Orphanet:325524]
xref: ICD10:E25.0 {source="Orphanet:325524", source="ORDO:325524/attributed", source="ORDO:325524/ntbt"}
xref: Orphanet:325524 {source="MONDO:equivalentTo"}
is_a: MONDO:0008725 {source="MONDOLEX:0017972", source="Orphanet:325524"} ! congenital lipoid adrenal hyperplasia due to STAR deficency
property_value: exactMatch Orphanet:325524

[Term]
id: MONDO:0017973
name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
subset: ordo_clinical_subtype {source="Orphanet:325529"}
xref: ICD10:E25.0 {source="ORDO:325529/attributed", source="ORDO:325529/ntbt", source="Orphanet:325529"}
xref: Orphanet:325529 {source="MONDO:equivalentTo"}
is_a: MONDO:0008725 {source="MONDOLEX:0017973", source="Orphanet:325529"} ! congenital lipoid adrenal hyperplasia due to STAR deficency
is_a: MONDO:0018387 {source="Orphanet:325529"} ! rare male infertility due to adrenal disorder
is_a: MONDO:0018406 {source="MONDO:Redundant", source="Orphanet:325529"} ! rare male infertility due to adrenal disorder of genetic origin
property_value: exactMatch Orphanet:325529

[Term]
id: MONDO:0017974
name: 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
subset: ordo_group_of_disorders {source="Orphanet:325537"}
synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [Orphanet:325537]
xref: Orphanet:325537 {source="MONDO:equivalentTo"}
xref: UMLS:CN227235 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017969 {source="Orphanet:325537"} ! 46,XY disorder of sex development of endocrine origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227235
property_value: exactMatch Orphanet:325537

[Term]
id: MONDO:0017975
name: sex chromosome disorder of sex development
def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." [MESH:D058533]
subset: ordo_group_of_disorders {source="Orphanet:325546"}
synonym: "Sex chromosome DSD" EXACT [Orphanet:325546]
xref: MESH:D058533 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:325546 {source="MONDO:equivalentTo"}
is_a: MONDO:0002145 {source="MESH:D058533", source="Orphanet:325546"} ! sex differentiation disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936421
property_value: exactMatch http://identifiers.org/mesh/D058533
property_value: exactMatch Orphanet:325546

[Term]
id: MONDO:0017976
name: disorder of sex development of gynecological interest
subset: ordo_group_of_disorders {source="Orphanet:325620"}
synonym: "DSD of gynecological interest" EXACT [Orphanet:325620]
xref: Orphanet:325620 {source="MONDO:equivalentTo"}
xref: UMLS:CN227237 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019937 {source="Orphanet:325620"} ! rare gynecologic or obstetric disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227237
property_value: exactMatch Orphanet:325620

[Term]
id: MONDO:0017977
name: 46,XY disorder of sex development of gynecological interest
subset: ordo_group_of_disorders {source="Orphanet:325632"}
synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632]
xref: Orphanet:325632 {source="MONDO:equivalentTo"}
xref: UMLS:CN227238 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017976 {source="Orphanet:325632"} ! disorder of sex development of gynecological interest
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227238
property_value: exactMatch Orphanet:325632

[Term]
id: MONDO:0017978
name: syndrome with disorder of sex development of gynecological interest
subset: ordo_group_of_disorders {source="Orphanet:325638"}
synonym: "syndrome with DSD of gynecological interest" EXACT [Orphanet:325638]
xref: Orphanet:325638 {source="MONDO:equivalentTo"}
xref: UMLS:CN204125 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017976 {source="Orphanet:325638"} ! disorder of sex development of gynecological interest
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204125
property_value: exactMatch Orphanet:325638

[Term]
id: MONDO:0017979
name: autoimmune lymphoproliferative syndrome
def: "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." [Orphanet:3261]
subset: ordo_disease {source="Orphanet:3261"}
synonym: "ALPS" EXACT [Orphanet:3261]
synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [CSP2005:0427-1178, DOID:6688]
synonym: "autoimmune lymphoproliferative syndrome type 1, autosomal dominant" RELATED [GARD:0008686]
synonym: "Canale-Smith syndrome" EXACT [DOID:6688, Orphanet:3261]
synonym: "FAS deficiency" EXACT [Orphanet:3261]
xref: CSP:1560-5548 {source="DOID:6688"}
xref: DOID:6688 {source="MONDO:equivalentTo"}
xref: GARD:0008686 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D47.9 {source="ORDO:3261/attributed", source="ORDO:3261/ntbt", source="DOID:6688", source="Orphanet:3261"}
xref: ICD10:D89.82 {source="DOID:6688"}
xref: ICD9:279.41 {source="DOID:6688", source="MONDO:superClassOf"}
xref: MedDRA:10069521 {source="ORDO:3261/e", source="Orphanet:3261"}
xref: MESH:D056735 {source="DOID:6688", source="MONDO:equivalentTo", source="ORDO:3261/e", source="Orphanet:3261"}
xref: NCIT:C37864 {source="DOID:6688", source="MONDO:kboom-pr-0.88/0.75/0.13", source="MONDO:equivalentTo"}
xref: Orphanet:3261 {source="DOID:6688", source="MONDO:equivalentTo"}
xref: UMLS:C1328840 {source="DOID:6688", source="MONDO:equivalentTo", source="NCIT:C37864", source="ORDO:3261/e", source="Orphanet:3261"}
is_a: MONDO:0002459 {source="DOID:6688"} ! type IV hypersensitivity disease
is_a: MONDO:0015709 {source="Orphanet:3261"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0016537 {source="MESH:D056735", source="MONDO:Redundant", source="Orphanet:3261"} ! lymphoproliferative syndrome
is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C37864", source="indirect"} ! neoplastic syndrome
relationship: excluded_subClassOf MONDO:0015757 {source="Orphanet:3261"} ! lymphoid hemopathy
property_value: exactMatch DOID:6688
property_value: exactMatch http://identifiers.org/meddra/10069521
property_value: exactMatch http://identifiers.org/mesh/D056735
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328840
property_value: exactMatch NCIT:C37864
property_value: exactMatch Orphanet:3261

[Term]
id: MONDO:0017980
name: syngnathia multiple anomalies
subset: gard_rare {source="GARD:0005092"}
subset: ordo_malformation_syndrome {source="Orphanet:3262"}
synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262]
xref: GARD:0005092 {source="MONDO:equivalentTo"}
xref: Orphanet:3262 {source="MONDO:equivalentTo"}
is_a: MONDO:0019710 {source="Orphanet:3262"} ! dysostosis with predominant craniofacial involvement
property_value: exactMatch Orphanet:3262
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies xsd:anyURI {source="GARD:0005092"}

[Term]
id: MONDO:0017981
name: syngnathia-cleft palate syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3263"}
synonym: "syngnathia cleft palate" RELATED [GARD:0005091]
xref: GARD:0005091 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:3263 {source="MONDO:equivalentTo"}
xref: UMLS:CN204137 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:3263"} ! orofacial clefting syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204137
property_value: exactMatch Orphanet:3263

[Term]
id: MONDO:0017982
name: obsolete humeroradial synostosis
is_obsolete: true
replaced_by: MONDO:0009356

[Term]
id: MONDO:0017983
name: humero-radio-ulnar synostosis
def: "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." [Orphanet:3266]
subset: ordo_morphological_anomaly {source="Orphanet:3266"}
synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266]
xref: ICD10:Q74.0 {source="Orphanet:3266", source="ORDO:3266/attributed", source="ORDO:3266/ntbt"}
xref: Orphanet:3266 {source="MONDO:equivalentTo"}
is_a: MONDO:0017429 {source="Orphanet:3266"} ! joint formation defects
property_value: exactMatch Orphanet:3266

[Term]
id: MONDO:0017984
name: familial lambdoid synostosis
def: "Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." [Orphanet:3267]
subset: ordo_morphological_anomaly {source="Orphanet:3267"}
synonym: "craniosynostosis, lambdoidal" RELATED [GARD:0003168]
synonym: "lambdoid synostosis" RELATED [GARD:0003168]
xref: GARD:0003168 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3267", source="ORDO:3267/attributed", source="ORDO:3267/ntbt"}
xref: Orphanet:3267 {source="MONDO:equivalentTo"}
xref: SCTID:766884000 {source="MONDO:equivalentTo"}
xref: UMLS:CN204142 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:3267"} ! isolated craniosynostosis
property_value: exactMatch http://identifiers.org/snomedct/766884000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204142
property_value: exactMatch Orphanet:3267

[Term]
id: MONDO:0017985
name: congenital radioulnar synostosis
def: "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." [Orphanet:3269]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:3269"}
synonym: "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius" RELATED [GARD:0004630]
synonym: "radial-ulnar synostosis" RELATED [GARD:0010876]
synonym: "radio-ulnar synostosis" RELATED [GARD:0010876]
synonym: "radio-ulnar synostosis type 1" RELATED [GARD:0004630]
synonym: "radioulnar fusion" EXACT [Orphanet:3269]
synonym: "radioulnar synostosis" EXACT [MONDO:ambiguous, OMIM:179300]
synonym: "radioulnar synostosis (disease)" EXACT [MONDO:0008360]
xref: COHD:438851 {source="MONDO:equivalentTo"}
xref: DOID:9827 {source="MONDO:equivalentTo"}
xref: GARD:0004630 {source="MONDO:equivalentTo"}
xref: GARD:0010876 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002974 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q74.0 {source="Orphanet:3269", source="DOID:9827", source="ORDO:3269/ntbt", source="ORDO:3269/inclusion"}
xref: ICD9:755.53 {source="DOID:9827", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C562408 {source="DOID:9827", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:179300 {source="MONDO:subClassOf", source="GARD:0004630", source="Orphanet:3269", source="DOID:9827", source="MONDO:equivalentTo", source="ORDO:3269/ntbt"}
xref: Orphanet:3269 {source="MONDO:equivalentTo", source="OMIM:179300", source="MONDO:superClassOf"}
xref: SCTID:33313004 {source="DOID:9827", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000839 {source="DOID:9827", source="indirect", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0017429 {source="Orphanet:3269"} ! joint formation defects
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158761
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931147
property_value: exactMatch DOID:9827
property_value: exactMatch http://identifiers.org/mesh/C562408
property_value: exactMatch http://identifiers.org/omim/179300
property_value: exactMatch http://identifiers.org/snomedct/33313004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431795
property_value: exactMatch Orphanet:3269

[Term]
id: MONDO:0017986
name: disorder of plasmalogens biosynthesis
subset: ordo_group_of_disorders {source="Orphanet:3276"}
xref: Orphanet:3276 {source="MONDO:equivalentTo"}
xref: UMLS:CN237437 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0019053 {source="MONDO:Redundant", source="Orphanet:3276"} ! peroxisomal disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237437
property_value: exactMatch Orphanet:3276

[Term]
id: MONDO:0017987
name: syringomyelia
def: "Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." [Orphanet:3280]
subset: gard_rare {source="GARD:0007725"}
subset: ordo_group_of_disorders {source="Orphanet:3280"}
synonym: "hydromyelia" RELATED [Orphanet:3280]
xref: COHD:378533 {source="MONDO:equivalentTo"}
xref: DOID:327 {source="MONDO:equivalentTo"}
xref: GARD:0007725 {source="MONDO:equivalentTo"}
xref: ICD10:G95.0 {source="Orphanet:3280", source="ORDO:3280/e"}
xref: ICD10:Q06.4 {source="Orphanet:3280", source="ORDO:3280/e"}
xref: MedDRA:10042928 {source="Orphanet:3280", source="ORDO:3280/e"}
xref: MESH:D013595 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="ORDO:3280/e"}
xref: NCIT:C85179 {source="DOID:327", source="MONDO:kboom-pr-0.90/0.80/0.06", source="MONDO:equivalentTo"}
xref: Orphanet:3280 {source="MONDO:equivalentTo"}
xref: SCTID:111496009 {source="DOID:327", source="MONDO:equivalentTo"}
xref: UMLS:C0039144 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="ORDO:3280/e", source="NCIT:C85179"}
is_a: MONDO:0002545 {source="DOID:327", source="MESH:D013595", source="NCIT:C85179", source="linkedlifedata"} ! spinal cord disease
relationship: excluded_subClassOf MONDO:0015141 {source="Orphanet:3280"} ! disorder of medulla oblongata
property_value: closeMatch http://identifiers.org/snomedct/155020007
property_value: closeMatch http://identifiers.org/snomedct/267695005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152444
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861301
property_value: exactMatch DOID:327
property_value: exactMatch http://identifiers.org/meddra/10042928
property_value: exactMatch http://identifiers.org/mesh/D013595
property_value: exactMatch http://identifiers.org/snomedct/111496009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039144
property_value: exactMatch NCIT:C85179
property_value: exactMatch Orphanet:3280
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7725/syringomyelia xsd:anyURI {source="GARD:0007725"}

[Term]
id: MONDO:0017988
name: multifocal atrial tachycardia (disease)
def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [Orphanet:3282]
subset: ordo_disease {source="Orphanet:3282"}
synonym: "chaotic atrial tachycardia" EXACT [Orphanet:3282]
synonym: "MAT" EXACT [Orphanet:3282]
synonym: "multifocal atrial tachycardia" EXACT [MONDO:ambiguous]
xref: GARD:0001235 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011701 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I47.1 {source="ORDO:3282/ntbt", source="Orphanet:3282"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:3282 {source="MONDO:equivalentTo"}
xref: SCTID:49982000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0221158 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:3282"}
is_a: MONDO:0016348 {source="Orphanet:3282"} ! non-genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/snomedct/49982000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221158
property_value: exactMatch Orphanet:3282

[Term]
id: MONDO:0017989
name: His bundle tachycardia
def: "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." [Orphanet:3283]
subset: gard_rare {source="GARD:0002706"}
subset: ordo_disease {source="Orphanet:3283"}
synonym: "JET" EXACT [Orphanet:3283]
synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283]
xref: GARD:0002706 {source="MONDO:equivalentTo"}
xref: ICD10:I47.1 {source="ORDO:3283/inclusion", source="ORDO:3283/e", source="Orphanet:3283"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013613 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C111646 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:3283 {source="MONDO:equivalentTo"}
xref: SCTID:233901002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0039235 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:3283", source="NCIT:C111646"}
is_a: MONDO:0015110 {source="Orphanet:3283"} ! genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/mesh/D013613
property_value: exactMatch http://identifiers.org/snomedct/233901002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039235
property_value: exactMatch NCIT:C111646
property_value: exactMatch Orphanet:3283
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia xsd:anyURI {source="GARD:0002706"}

[Term]
id: MONDO:0017990
name: catecholaminergic polymorphic ventricular tachycardia
def: "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." [Orphanet:3286]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:3286"}
synonym: "bidirectional tachycardia induced by catecholamine" EXACT [Orphanet:3286]
synonym: "catecholamine-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "CPVT" EXACT [GARD:0004421, Orphanet:3286]
synonym: "double tachycardia induced by catecholamines" EXACT [Orphanet:3286]
synonym: "familial polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "malignant paroxysmal ventricular tachycardia" EXACT [Orphanet:3286]
synonym: "multifocal ventricular premature beats" EXACT [GARD:0004421, Orphanet:3286]
synonym: "polymorphic catecholergic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421]
synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS:604772]
xref: DOID:0060674 {source="MONDO:equivalentTo"}
xref: GARD:0004421 {source="MONDO:equivalentTo"}
xref: ICD10:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="ORDO:3286/attributed", source="ORDO:3286/ntbt", source="Orphanet:3286"}
xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"}
xref: Orphanet:3286 {source="GARD:0004421", source="DOID:0060674", source="MONDO:equivalentTo"}
xref: SCTID:419671004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1631597 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:3286"}
is_a: MONDO:0000992 {source="DOID:0060674"} ! heart conduction disease
is_a: MONDO:0008648 ! ventricular tachycardia, familial
is_a: MONDO:0020575 {source="MONDOLEX"} ! polymorphic ventricular tachycardia
property_value: exactMatch DOID:0060674
property_value: exactMatch http://identifiers.org/snomedct/419671004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1631597
property_value: exactMatch Orphanet:3286

[Term]
id: MONDO:0017991
name: Takayasu arteritis
def: "Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." [Orphanet:3287]
subset: ordo_disease {source="Orphanet:3287"}
synonym: "aortic arch arteritis" EXACT [DOID:2508, MTHICD9_2006:446.7]
synonym: "aortic Arch syndrome" EXACT [DOID:2508, NCIT:C34391]
synonym: "idiopathic aortitis" EXACT [DOID:2508]
synonym: "pharyngeal arch artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "pulseless disease" RELATED [OMIM:207600]
synonym: "TA" RELATED [GARD:0007730]
synonym: "Takayasu arteritis" EXACT [DOID:2508, OMIM:207600]
synonym: "Takayasu disease" RELATED [GARD:0007730]
synonym: "Takayasu's arteritis" EXACT [MONDO:0008805]
synonym: "Takayasu's disease" EXACT [DOID:2508, ICD9CM_2006:446.7]
synonym: "Young female arteritis" RELATED [OMIM:207600]
xref: COHD:440740 {source="MONDO:equivalentTo"}
xref: DOID:2508 {source="MONDO:equivalentTo"}
xref: EFO:1001857 {source="MONDO:equivalentTo"}
xref: GARD:0007730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M31.4 {source="Orphanet:3287", source="ORDO:3287/e", source="DOID:2508"}
xref: ICD9:446.7 {source="DOID:2508"}
xref: MedDRA:10043097 {source="Orphanet:3287", source="ORDO:3287/e"}
xref: MESH:D013625 {source="Orphanet:3287", source="MONDO:equivalentTo", source="ORDO:3287/e", source="DOID:2508"}
xref: NCIT:C34391 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.77/1.37", source="DOID:2508"}
xref: NCIT:C35062 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.79/1.37", source="DOID:2508"}
xref: OMIM:207600 {source="Orphanet:3287", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:3287/e", source="DOID:2508"}
xref: Orphanet:3287 {source="MONDO:subClassOf", source="OMIM:207600", source="MONDO:equivalentTo"}
xref: SCTID:239937004 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0039263 {source="NCIT:C35062", source="Orphanet:3287", source="NCBI:mim2gene_medline", source="OMIM:207600", source="MONDO:equivalentTo", source="ORDO:3287/e", source="DOID:2508"}
is_a: MONDO:0002254 {source="DOID:2508", source="MONDOLEX:0017991", source="NCIT:C34391"} ! syndromic disease
is_a: MONDO:0015488 {source="Orphanet:3287"} ! predominantly large-vessel vasculitis
is_a: MONDO:0019724 {source="Orphanet:3287"} ! secondary glomerular disease
is_a: MONDO:0043494 {source="EFO:1001857", source="MESH:D013625", source="NCIT:C35062", source="linkedlifedata/inferred"} ! arteritis
property_value: closeMatch http://identifiers.org/mesh/D001015
property_value: closeMatch http://identifiers.org/snomedct/155445002
property_value: closeMatch http://identifiers.org/snomedct/195361009
property_value: closeMatch http://identifiers.org/snomedct/266323005
property_value: closeMatch http://identifiers.org/snomedct/359789008
property_value: closeMatch http://identifiers.org/snomedct/42153001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003490
property_value: exactMatch DOID:2508
property_value: exactMatch http://identifiers.org/meddra/10043097
property_value: exactMatch http://identifiers.org/mesh/D013625
property_value: exactMatch http://identifiers.org/omim/207600
property_value: exactMatch http://identifiers.org/snomedct/239937004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039263
property_value: exactMatch NCIT:C34391
property_value: exactMatch NCIT:C35062
property_value: exactMatch Orphanet:3287

[Term]
id: MONDO:0017992
name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
subset: ordo_disease {source="Orphanet:329173"}
xref: Orphanet:329173 {source="MONDO:equivalentTo"}
xref: UMLS:CN237438 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0017956 {source="Orphanet:329173"} ! mixed autoinflammatory and autoimmune syndrome
is_a: MONDO:0018035 {source="Orphanet:329173"} ! syndrome with combined immunodeficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237438
property_value: exactMatch Orphanet:329173

[Term]
id: MONDO:0017993
name: cerebral sinovenous thrombosis
def: "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." [PMID:28798906]
subset: ordo_disease {source="Orphanet:329217"}
synonym: "CSVT" EXACT [Orphanet:329217, PMID:28798906]
xref: ICD10:I67.6 {source="Orphanet:329217", source="ORDO:329217/ntbt"}
xref: Orphanet:329217 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0020676 {source="Orphanet:329217"} ! disease of central nervous system or retinal vasculature
is_a: MONDO:0043218 ! neurovascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: exactMatch Orphanet:329217

[Term]
id: MONDO:0017994
name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
subset: ordo_disease {source="Orphanet:329249"}
xref: ICD10:E66.8 {source="ORDO:329249/attributed", source="ORDO:329249/ntbt", source="Orphanet:329249"}
xref: Orphanet:329249 {source="MONDO:equivalentTo"}
xref: UMLS:CN204200 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020075 {source="Orphanet:329249"} ! genetic non-syndromic obesity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204200
property_value: exactMatch Orphanet:329249

[Term]
id: MONDO:0017995
name: spondylocostal dysostosis-hypospadias-intellectual disability syndrome
subset: ordo_disease {source="Orphanet:329252"}
xref: Orphanet:329252 {source="MONDO:equivalentTo"}
xref: UMLS:CN204201 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329252", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:329252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019711 {source="Orphanet:329252"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204201
property_value: exactMatch Orphanet:329252

[Term]
id: MONDO:0017996
name: blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
subset: ordo_disease {source="Orphanet:329255"}
xref: Orphanet:329255 {source="MONDO:equivalentTo"}
xref: UMLS:CN204202 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017393 {source="Orphanet:329255"} ! blepharophimosis - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/615057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204202
property_value: exactMatch Orphanet:329255

[Term]
id: MONDO:0017997
name: telecanthus-hypertelorism-strabismus-pes cavus syndrome
def: "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." [Orphanet:3293]
subset: ordo_malformation_syndrome {source="Orphanet:3293"}
xref: Orphanet:3293 {source="MONDO:equivalentTo"}
xref: UMLS:CN204205 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:3293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204205
property_value: exactMatch Orphanet:3293

[Term]
id: MONDO:0017998
name: PLA2G6-associated neurodegeneration
def: "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_group_of_disorders {source="Orphanet:329303"}
synonym: "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6" EXACT []
synonym: "PLA2G6 neurodegeneration with brain iron accumulation" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "plan" EXACT [Orphanet:329303]
xref: GARD:0012567 {source="MONDO:equivalentTo"}
xref: ICD10:G23.0 {source="ORDO:329303/attributed", source="ORDO:329303/ntbt", source="Orphanet:329303"}
xref: Orphanet:329303 {source="MONDO:equivalentTo"}
is_a: MONDO:0018307 ! neurodegeneration with brain iron accumulation
relationship: excluded_subClassOf MONDO:0018118 {source="Orphanet:329303"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
relationship: excluded_subClassOf MONDO:0018307 {source="Orphanet:329303"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch Orphanet:329303

[Term]
id: MONDO:0017999
name: fatty acid hydroxylase-associated neurodegeneration
def: "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." [Orphanet:329308]
subset: ordo_disease {source="Orphanet:329308"}
synonym: "FAHN" EXACT [Orphanet:329308]
xref: GARD:0010810 {source="MONDO:equivalentTo"}
xref: ICD10:G23.0 {source="Orphanet:329308", source="ORDO:329308/attributed", source="ORDO:329308/ntbt"}
xref: Orphanet:329308 {source="MONDO:equivalentTo"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015089 {source="Orphanet:329308"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018118 {source="Orphanet:329308"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0018307 {source="Orphanet:329308"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0018609 {source="Orphanet:329308"} ! syndromic hereditary optic neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3668943
property_value: exactMatch Orphanet:329308

[Term]
id: MONDO:0018000
name: hereditary thrombocytosis with transverse limb defect
def: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." [Orphanet:329319]
subset: ordo_disease {source="Orphanet:329319"}
synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319]
synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319]
xref: ICD10:Q87.2 {source="Orphanet:329319", source="ORDO:329319/attributed", source="ORDO:329319/ntbt"}
xref: Orphanet:329319 {source="MONDO:equivalentTo"}
xref: UMLS:CN204208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0016636 {source="Orphanet:329319"} ! thrombotic disorder due to a constitutional platelet anomaly
is_a: MONDO:0017432 {source="Orphanet:329319"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:329319", source="Orphanet:329319/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204208
property_value: exactMatch Orphanet:329319

[Term]
id: MONDO:0018001
name: inverse Klippel-Trenaunay syndrome
subset: ordo_disease {source="Orphanet:329324"}
synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324]
synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324]
xref: ICD10:Q87.2 {source="ORDO:329324/inclusion", source="Orphanet:329324", source="ORDO:329324/ntbt"}
xref: Orphanet:329324 {source="MONDO:equivalentTo"}
xref: UMLS:CN204209 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016524 {source="Orphanet:329324"} ! congenital vascular bone syndrome
is_a: MONDO:0018718 {source="Orphanet:329324"} ! vascular tumor with associated anomalies
is_a: MONDO:0024499 ! vascular bone neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204209
property_value: exactMatch Orphanet:329324

[Term]
id: MONDO:0018002
name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
def: "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." [Orphanet:329336]
subset: ordo_disease {source="Orphanet:329336"}
synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [Orphanet:329336]
xref: ICD10:G71.3 {source="ORDO:329336/attributed", source="ORDO:329336/ntbt", source="Orphanet:329336"}
xref: Orphanet:329336 {source="MONDO:equivalentTo"}
xref: SCTID:725464001 {source="MONDO:equivalentTo"}
xref: UMLS:C4511138 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="Orphanet:329336"} ! inborn mitochondrial myopathy
is_a: MONDO:0016792 {source="Orphanet:329336"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
is_a: MONDO:0019058 {source="Orphanet:329336"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:329336"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/725464001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511138
property_value: exactMatch Orphanet:329336

[Term]
id: MONDO:0018003
name: limbic encephalitis with DPP6 antibodies
subset: ordo_disease {source="Orphanet:329341"}
synonym: "limbic encephalitis with dipeptidyl-peptidase 6 antibodies" EXACT [Orphanet:329341]
synonym: "limbic encephalitis with DPPX antibodies" EXACT [Orphanet:329341]
xref: ICD10:G13.1 {source="ORDO:329341/ntbt", source="Orphanet:329341"}
xref: Orphanet:329341 {source="MONDO:equivalentTo"}
is_a: MONDO:0015594 {source="Orphanet:329341"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch Orphanet:329341

[Term]
id: MONDO:0018004
name: acute megakaryoblastic leukemia without down syndrome
subset: ordo_clinical_subtype {source="Orphanet:329469"}
synonym: "non-DS-AMKL" EXACT [Orphanet:329469]
xref: ICD10:C94.2 {source="ORDO:329469/ntbt", source="Orphanet:329469"}
xref: Orphanet:329469 {source="MONDO:equivalentTo"}
xref: UMLS:CN204216 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018872 {source="Orphanet:329469"} ! acute megakaryoblastic leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204216
property_value: exactMatch Orphanet:329469

[Term]
id: MONDO:0018005
name: spastic paraplegia-Paget disease of bone syndrome
def: "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." [Orphanet:329475]
subset: ordo_disease {source="Orphanet:329475"}
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:329475/attributed", source="ORDO:329475/ntbt", source="Orphanet:329475"}
xref: Orphanet:329475 {source="MONDO:equivalentTo"}
xref: UMLS:CN204217 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015087 {source="Orphanet:329475"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0019708 {source="Orphanet:329475"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204217
property_value: exactMatch Orphanet:329475

[Term]
id: MONDO:0018006
name: adult-onset distal myopathy due to VCP mutation
def: "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." [Orphanet:329478]
subset: ordo_disease {source="Orphanet:329478"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:329478", source="ORDO:329478/attributed", source="ORDO:329478/ntbt"}
xref: Orphanet:329478 {source="MONDO:equivalentTo"}
xref: UMLS:CN204218 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:329478"} ! autosomal dominant distal myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204218
property_value: exactMatch Orphanet:329478

[Term]
id: MONDO:0018007
name: mosaic genome-wide paternal uniparental disomy
subset: ordo_malformation_syndrome {source="Orphanet:329813"}
synonym: "androgenetic/biparental mosaicism" EXACT [Orphanet:329813]
synonym: "genome-wide paternal uniparental disomy mosaicism" EXACT [Orphanet:329813]
synonym: "Mosaic genome-wide paternal UPD" EXACT [Orphanet:329813]
xref: Orphanet:329813 {source="MONDO:equivalentTo"}
xref: UMLS:CN230278 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020055 {source="Orphanet:329813"} ! autosomal uniparental disomy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230278
property_value: exactMatch Orphanet:329813

[Term]
id: MONDO:0018008
name: idiopathic giant cell myocarditis
subset: ordo_disease {source="Orphanet:329874"}
synonym: "IGCM" EXACT [Orphanet:329874]
xref: ICD10:I40.8 {source="Orphanet:329874", source="ORDO:329874/ntbt"}
xref: Orphanet:329874 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="Orphanet:329874"} ! cardiomyopathy
property_value: exactMatch Orphanet:329874

[Term]
id: MONDO:0018009
name: non-hypoproteinemic hypertrophic gastropathy
def: "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." [Orphanet:329883]
subset: ordo_disease {source="Orphanet:329883"}
synonym: "hypertrophic gastropathy without hypoproteinemia" EXACT [Orphanet:329883]
xref: ICD10:K29.6 {source="ORDO:329883/ntbt", source="Orphanet:329883"}
xref: Orphanet:329883 {source="MONDO:equivalentTo"}
is_a: MONDO:0015111 {source="Orphanet:329883"} ! gastroesophageal disease
property_value: exactMatch Orphanet:329883

[Term]
id: MONDO:0018010
name: juvenile idiopathic inflammatory myopathy
subset: ordo_group_of_disorders {source="Orphanet:329888"}
synonym: "JIIM" EXACT [Orphanet:329888]
xref: Orphanet:329888 {source="MONDO:equivalentTo"}
is_a: MONDO:0020122 {source="Orphanet:329888"} ! idiopathic inflammatory myopathy
property_value: exactMatch Orphanet:329888

[Term]
id: MONDO:0018011
name: juvenile overlap myositis
def: "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." [Orphanet:329894]
subset: ordo_disease {source="Orphanet:329894"}
xref: ICD10:M33.0 {source="ORDO:329894/ntbt", source="Orphanet:329894"}
xref: Orphanet:329894 {source="MONDO:equivalentTo"}
xref: SCTID:766252004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018010 {source="Orphanet:329894"} ! juvenile idiopathic inflammatory myopathy
property_value: exactMatch http://identifiers.org/snomedct/766252004
property_value: exactMatch Orphanet:329894

[Term]
id: MONDO:0018012
name: obsolete tetanus
is_obsolete: true
replaced_by: MONDO:0005526

[Term]
id: MONDO:0018013
name: non-immunoglobulin-mediated membranoproliferative glomerulonephritis
subset: ordo_clinical_subtype {source="Orphanet:329918"}
synonym: "C3 glomerulopathy" EXACT [Orphanet:329918]
synonym: "non-Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329918]
synonym: "non-Ig-mediated MPGN" EXACT [Orphanet:329918]
synonym: "non-immunoglobulin-mediated MPGN" EXACT [Orphanet:329918]
xref: ICD10:N00.5 {source="ORDO:329918/attributed", source="ORDO:329918/ntbt", source="Orphanet:329918"}
xref: Orphanet:329918 {source="MONDO:equivalentTo"}
is_a: MONDO:0018904 {source="MONDOLEX:0018013", source="Orphanet:329918"} ! primary membranoproliferative glomerulonephritis
property_value: exactMatch Orphanet:329918

[Term]
id: MONDO:0018014
name: transient neonatal multiple acyl-CoA dehydrogenase deficiency
def: "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." [Orphanet:329942]
subset: ordo_disease {source="Orphanet:329942"}
synonym: "transient neonatal glutaric acidemia type 2" EXACT [Orphanet:329942]
synonym: "transient neonatal glutaric aciduria type 2" EXACT [Orphanet:329942]
synonym: "transient neonatal MAD deficiency" EXACT [Orphanet:329942]
synonym: "transient neonatal MADD" EXACT [Orphanet:329942]
xref: ICD10:E71.3 {source="ORDO:329942/attributed", source="ORDO:329942/ntbt", source="Orphanet:329942"}
xref: Orphanet:329942 {source="MONDO:equivalentTo"}
xref: SCTID:723552005 {source="MONDO:equivalentTo"}
xref: UMLS:CN204228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017714 {source="Orphanet:329942"} ! acyl-CoA dehydrogenase deficiency
property_value: exactMatch http://identifiers.org/snomedct/723552005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204228
property_value: exactMatch Orphanet:329942

[Term]
id: MONDO:0018015
name: intermittent hydrarthrosis
subset: ordo_disease {source="Orphanet:329967"}
xref: ICD10:M12.4 {source="ORDO:329967/e", source="Orphanet:329967", source="ORDO:329967/specific", source="MONDO:equivalentTo"}
xref: Orphanet:329967 {source="MONDO:equivalentTo"}
xref: SCTID:711286009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0149910 {source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="Orphanet:329967"} ! rheumatologic disorder
is_a: MONDO:0017133 {source="Orphanet:329967"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/711286009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149910
property_value: exactMatch Orphanet:329967

[Term]
id: MONDO:0018016
name: classic neuroendocrine tumor of appendix
def: "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix (see this term), seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." [Orphanet:329977]
subset: ordo_clinical_subtype {source="Orphanet:329977"}
synonym: "classic appendiceal neuroendocrine tumor" EXACT [Orphanet:329977]
synonym: "classic appendix neuroendocrine tumor" EXACT [Orphanet:329977]
xref: ICD10:D37.3 {source="Orphanet:329977", source="ORDO:329977/ntbt"}
xref: Orphanet:329977 {source="MONDO:equivalentTo"}
xref: UMLS:CN204231 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015066 {source="Orphanet:329977"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204231
property_value: exactMatch Orphanet:329977

[Term]
id: MONDO:0018017
name: goblet cell carcinoma
def: "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." [Orphanet:329984]
subset: ordo_clinical_subtype {source="Orphanet:329984"}
synonym: "carcinoma of goblet cell" EXACT [MONDO:patterns/carcinoma]
synonym: "GCC" EXACT [Orphanet:329984]
synonym: "goblet cell adenocarcinoid" EXACT [Orphanet:329984]
synonym: "goblet cell carcinoid" EXACT [Orphanet:329984]
synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "goblet cell tumor" EXACT [Orphanet:329984]
synonym: "mucinous carcinoid" RELATED [GARD:0010414]
xref: GARD:0010414 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C18.1 {source="Orphanet:329984", source="ORDO:329984/ntbt"}
xref: Orphanet:329984 {source="MONDO:equivalentTo"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0003196 ! appendix carcinoma
is_a: MONDO:0015066 {source="Orphanet:329984"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205695
property_value: exactMatch Orphanet:329984

[Term]
id: MONDO:0018018
name: wild type ATTR amyloidosis
subset: ordo_disease {source="Orphanet:330001"}
synonym: "ATTRwt amyloidosis" EXACT [Orphanet:330001]
synonym: "ATTRwt-related amyloidosis" EXACT [Orphanet:330001]
synonym: "Senile systemic amyloidosis" EXACT [Orphanet:330001]
synonym: "SSA" EXACT [Orphanet:330001]
synonym: "wild type ATTR-related amyloidosis" EXACT [Orphanet:330001]
xref: ICD10:E85.8 {source="Orphanet:330001", source="ORDO:330001/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:330001 {source="MONDO:equivalentTo"}
xref: SCTID:237877004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342623 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN204235 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016345 {source="Orphanet:330001"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="Orphanet:330001", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease)
property_value: exactMatch http://identifiers.org/snomedct/237877004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342623
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204235
property_value: exactMatch Orphanet:330001

[Term]
id: MONDO:0018019
name: lead poisoning
def: "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." [Orphanet:330015]
subset: ordo_disease {source="Orphanet:330015"}
synonym: "Lead intoxication" EXACT [Orphanet:330015]
synonym: "plumbism" EXACT [Orphanet:330015]
synonym: "saturnism" EXACT [Orphanet:330015]
xref: ICD10:T56.0 {source="ORDO:330015/e", source="Orphanet:330015"}
xref: ICD9:984.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:984.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007855 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:330015 {source="MONDO:equivalentTo"}
xref: SCTID:38342005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
is_a: MONDO:0029000 {source="Orphanet:330015"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023176
property_value: exactMatch http://identifiers.org/mesh/D007855
property_value: exactMatch http://identifiers.org/snomedct/38342005
property_value: exactMatch Orphanet:330015

[Term]
id: MONDO:0018020
name: mercury poisoning
def: "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." [Orphanet:330021]
subset: gard_rare {source="GARD:0007021"}
subset: ordo_disease {source="Orphanet:330021"}
synonym: "hydrargyria" EXACT [Orphanet:330021]
synonym: "mercurialism" EXACT [Orphanet:330021]
synonym: "Mercury intoxication" EXACT [Orphanet:330021]
synonym: "Mercury toxicity" RELATED [GARD:0007021]
xref: EFO:1001810 {source="MONDO:equivalentTo"}
xref: GARD:0007021 {source="MONDO:equivalentTo"}
xref: ICD10:T56.1 {source="Orphanet:330021", source="ORDO:330021/e"}
xref: ICD9:985.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D008630 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:330021 {source="MONDO:equivalentTo"}
xref: SCTID:85180002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.74"}
is_a: MONDO:0029000 {source="Orphanet:330021"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025427
property_value: exactMatch http://identifiers.org/mesh/D008630
property_value: exactMatch http://identifiers.org/snomedct/85180002
property_value: exactMatch Orphanet:330021
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning xsd:anyURI {source="GARD:0007021"}

[Term]
id: MONDO:0018021
name: hypotrichosis-deafness syndrome
subset: ordo_disease {source="Orphanet:330029"}
xref: ICD10:H90.5 {source="ORDO:330029/attributed", source="ORDO:330029/ntbt", source="Orphanet:330029"}
xref: Orphanet:330029 {source="MONDO:equivalentTo"}
xref: UMLS:CN204237 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017681 {source="Orphanet:330029"} ! erythrokeratoderma variabilis progressiva
is_a: MONDO:0019285 {source="Orphanet:330029"} ! syndromic nail anomaly
is_a: MONDO:0019589 {source="Orphanet:330029"} ! syndromic genetic deafness
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:330029"} ! genetic alopecia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204237
property_value: exactMatch Orphanet:330029

[Term]
id: MONDO:0018022
name: hemoglobin Lepore-beta-thalassemia syndrome
subset: ordo_disease {source="Orphanet:330032"}
synonym: "HbLepore-beta-thalassemia syndrome" EXACT [Orphanet:330032]
synonym: "Lepore-beta-thalassemia syndrome" EXACT [Orphanet:330032]
xref: ICD10:D56.8 {source="Orphanet:330032", source="ORDO:330032/attributed", source="ORDO:330032/ntbt"}
xref: Orphanet:330032 {source="MONDO:equivalentTo"}
xref: UMLS:CN227251 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016488 {source="Orphanet:330032"} ! beta-thalassemia associated with another hemoglobin anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227251
property_value: exactMatch Orphanet:330032

[Term]
id: MONDO:0018023
name: hemoglobin M disease
subset: ordo_disease {source="Orphanet:330041"}
synonym: "autosomal dominant methemoglobinemia" RELATED [GARD:0013007]
synonym: "blue baby syndrome" RELATED [GARD:0013007]
synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD:0013007]
synonym: "M hemoglobinopathy" EXACT [Orphanet:330041]
synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007]
xref: GARD:0013007 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D74.0 {source="ORDO:330041/attributed", source="ORDO:330041/ntbt", source="Orphanet:330041"}
xref: MESH:C581942 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:617971 {source="MONDO:equivalentTo"}
xref: Orphanet:330041 {source="MONDO:equivalentTo", source="OMIM:617971"}
xref: SCTID:74912001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3665425 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN204238 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia
relationship: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch http://identifiers.org/mesh/C581942
property_value: exactMatch http://identifiers.org/omim/617971
property_value: exactMatch http://identifiers.org/snomedct/74912001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204238
property_value: exactMatch Orphanet:330041

[Term]
id: MONDO:0018024
name: hydroa vacciniforme
def: "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." [NCIT:C84766]
subset: gard_rare {source="GARD:0009654"}
subset: ordo_disease {source="Orphanet:330058"}
synonym: "hV" RELATED [GARD:0009654]
xref: GARD:0009654 {source="MONDO:equivalentTo"}
xref: ICD10:L56.4 {source="Orphanet:330058", source="ORDO:330058/ntbt"}
xref: MESH:D006837 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84766 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:330058 {source="MONDO:equivalentTo"}
xref: SCTID:200837006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0020241 {source="NCIT:C84766", source="Orphanet:330058", source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="NCIT:C84766"} ! dermatitis
is_a: MONDO:0019304 {source="Orphanet:330058"} ! rare photodermatosis
property_value: exactMatch http://identifiers.org/mesh/D006837
property_value: exactMatch http://identifiers.org/snomedct/200837006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020241
property_value: exactMatch NCIT:C84766
property_value: exactMatch Orphanet:330058
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme xsd:anyURI {source="GARD:0009654"}

[Term]
id: MONDO:0018025
name: chronic actinic dermatitis
subset: ordo_disease {source="Orphanet:330064"}
synonym: "actinic reticuloid" EXACT [Orphanet:330064]
synonym: "chronic photosensitivity dermatitis" EXACT [Orphanet:330064]
xref: ICD10:L57.8 {source="Orphanet:330064", source="ORDO:330064/ntbt"}
xref: ICD9:692.73 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:330064 {source="MONDO:equivalentTo"}
xref: SCTID:52636001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1510437 {source="Orphanet:330064", source="MONDO:equivalentTo"}
is_a: MONDO:0019304 {source="Orphanet:330064"} ! rare photodermatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282309
property_value: exactMatch http://identifiers.org/snomedct/52636001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510437
property_value: exactMatch Orphanet:330064

[Term]
id: MONDO:0018026
name: tetraploidy syndrome
def: "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." [MESH:D057891]
subset: gard_rare {source="GARD:0005151"}
subset: ordo_malformation_syndrome {source="Orphanet:3305"}
synonym: "tetraploidy" EXACT []
xref: GARD:0005151 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.7 {source="ORDO:3305/attributed", source="ORDO:3305/ntbt", source="Orphanet:3305"}
xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="ORDO:3305/e", source="MONDO:ontobio"}
xref: Orphanet:3305 {source="MONDO:equivalentTo"}
xref: SCTID:726363000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795884 {source="MONDO:equivalentTo"}
is_a: MONDO:0019934 {source="MESH:D057891", source="Orphanet:3305"} ! polyploidy
property_value: exactMatch http://identifiers.org/mesh/D057891
property_value: exactMatch http://identifiers.org/snomedct/726363000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795884
property_value: exactMatch Orphanet:3305
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5151/tetraploidy xsd:anyURI {source="GARD:0005151"}

[Term]
id: MONDO:0018027
name: duplication/inversion 15q11
def: "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15 ) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures . Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005153]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3306"}
synonym: "chromosome 15q tetrasomy" RELATED [GARD:0005153]
synonym: "duplication/inversion 15q11" EXACT [GARD:0005153]
synonym: "Duplication/inversion type 15q11" EXACT [MONDORULE:7, Orphanet:3306]
synonym: "idic(15)" EXACT [Orphanet:3306]
synonym: "Inv dup(15)" EXACT [Orphanet:3306]
synonym: "Invdup(15)" EXACT [Orphanet:3306]
synonym: "inverted duplication 15" RELATED [GARD:0005153]
synonym: "Isodicentric 15 chromosome" EXACT [Orphanet:3306]
synonym: "Isodicentric chromosome 15 syndrome" RELATED [GARD:0005153]
synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306]
synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306]
synonym: "tetrasomy 15q" RELATED [GARD:0005153]
xref: GARD:0005153 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="ORDO:3306/attributed", source="ORDO:3306/ntbt", source="Orphanet:3306"}
xref: MESH:C580205 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3306 {source="MONDO:equivalentTo", source="GARD:0005153"}
xref: SCTID:723332005 {source="MONDO:equivalentTo"}
is_a: MONDO:0015652 {source="Orphanet:3306"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016998 {source="Orphanet:3306"} ! complex chromosomal rearrangement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795859
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3711376
property_value: exactMatch http://identifiers.org/mesh/C580205
property_value: exactMatch http://identifiers.org/snomedct/723332005
property_value: exactMatch Orphanet:3306
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome xsd:anyURI {source="GARD:0005153"}

[Term]
id: MONDO:0018028
name: tetrasomy 5p
def: "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." [Orphanet:3309]
subset: ordo_malformation_syndrome {source="Orphanet:3309"}
synonym: "Isochromosome 5p" EXACT [Orphanet:3309]
synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309]
xref: ICD10:Q99.8 {source="ORDO:3309/attributed", source="ORDO:3309/ntbt", source="Orphanet:3309"}
xref: Orphanet:3309 {source="MONDO:equivalentTo"}
xref: SCTID:766755003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016942 {source="Orphanet:3309", source="Orphanet:3309/inferred"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
is_a: MONDO:0030502 ! tetrasomy
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3309"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/snomedct/766755003
property_value: exactMatch Orphanet:3309

[Term]
id: MONDO:0018029
name: congenital factor XIII deficiency
def: "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." [Orphanet:331]
subset: ordo_disease {source="Orphanet:331"}
synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211, MTHICD9_2006:286.3]
synonym: "factor XIII deficiency" RELATED [DOID:2211]
synonym: "factor XIII deficiency disease" EXACT [DOID:2211]
synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766]
synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331]
synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211]
xref: DOID:2211 {source="MONDO:equivalentTo"}
xref: GARD:0010766 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D68.2 {source="ORDO:331/attributed", source="ORDO:331/ntbt", source="Orphanet:331"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005177 {source="DOID:2211", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131633 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:331 {source="MONDO:equivalentTo"}
xref: SCTID:50189006 {source="DOID:2211", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.31"}
is_a: MONDO:0002241 {source="MONDO:cjm"} ! factor XIII deficiency
is_a: MONDO:0019039 {source="Orphanet:331"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: closeMatch http://identifiers.org/snomedct/18604004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015530
property_value: closeMatch NCIT:C98941
property_value: exactMatch DOID:2211
property_value: exactMatch http://identifiers.org/mesh/D005177
property_value: exactMatch http://identifiers.org/snomedct/50189006
property_value: exactMatch NCIT:C131633
property_value: exactMatch Orphanet:331

[Term]
id: MONDO:0018030
name: tetrasomy 9p
def: "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." [Orphanet:3310]
subset: gard_rare {source="GARD:0000042"}
subset: ordo_malformation_syndrome {source="Orphanet:3310"}
synonym: "chromosome 9p tetrasomy" RELATED [GARD:0000042]
synonym: "Isochromosome 9p" EXACT [Orphanet:3310]
synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042]
synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042]
synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310]
xref: GARD:0000042 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="Orphanet:3310", source="ORDO:3310/attributed", source="ORDO:3310/ntbt"}
xref: MESH:C538027 {source="Orphanet:3310", source="ORDO:3310/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3310 {source="MONDO:equivalentTo"}
xref: SCTID:715530004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C0795832 {source="Orphanet:3310", source="ORDO:3310/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016946 {source="Orphanet:3310"} ! partial trisomy of the short arm of chromosome 9
is_a: MONDO:0030502 ! tetrasomy
property_value: exactMatch http://identifiers.org/mesh/C538027
property_value: exactMatch http://identifiers.org/snomedct/715530004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795832
property_value: exactMatch Orphanet:3310
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p xsd:anyURI {source="GARD:0000042"}

[Term]
id: MONDO:0018031
name: granulomatous slack skin disease
def: "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." [Orphanet:33111]
subset: ordo_disease {source="Orphanet:33111"}
synonym: "granulomatous slack skin" EXACT []
xref: GARD:0010986 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C84.0 {source="ORDO:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"}
xref: NCIT:C35464 {source="MONDO:equivalentTo"}
xref: Orphanet:33111 {source="MONDO:equivalentTo"}
xref: SCTID:277796003 {source="MONDO:equivalentTo"}
xref: UMLS:C0376407 {source="MONDO:equivalentTo", source="ORDO:33111/e", source="Orphanet:33111"}
is_a: MONDO:0045071 {source="NCIT:C35464"} ! mycosis fungoides variant
property_value: exactMatch http://identifiers.org/snomedct/277796003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457002
property_value: exactMatch NCIT:C35464
property_value: exactMatch Orphanet:33111

[Term]
id: MONDO:0018032
name: constitutional neutropenia with extra-hematopoietic manifestations
subset: ordo_group_of_disorders {source="Orphanet:331184"}
xref: Orphanet:331184 {source="MONDO:equivalentTo"}
is_a: MONDO:0015134 {source="Orphanet:331184"} ! constitutional neutropenia
property_value: exactMatch Orphanet:331184

[Term]
id: MONDO:0018033
name: other immunodeficiency syndromes due to defects in innate immunity
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:331193"}
xref: Orphanet:331193 {source="MONDO:equivalentTo"}
xref: UMLS:CN204276 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015135 {source="Orphanet:331193"} ! primary immunodeficiency due to a genetic defect in innate immunity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204276
property_value: exactMatch Orphanet:331193

[Term]
id: MONDO:0018034
name: thalidomide embryopathy
def: "exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." [Orphanet:3312]
subset: ordo_disease {source="Orphanet:3312"}
synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312]
synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082]
synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082]
xref: GARD:0002313 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q86.8 {source="Orphanet:3312", source="ORDO:3312/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071249 {source="Orphanet:3312", source="ORDO:3312/e"}
xref: NCIT:C99082 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:3312 {source="MONDO:equivalentTo"}
xref: SCTID:36193003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.46/1.29"}
xref: UMLS:C0432365 {source="NCIT:C99082", source="Orphanet:3312", source="ORDO:3312/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016677 {source="Orphanet:3312"} ! toxic or drug-related embryofetopathy
is_a: MONDO:0017432 {source="Orphanet:3312"} ! syndrome with limb reduction defects
property_value: exactMatch http://identifiers.org/meddra/10071249
property_value: exactMatch http://identifiers.org/snomedct/36193003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432365
property_value: exactMatch NCIT:C99082
property_value: exactMatch Orphanet:3312

[Term]
id: MONDO:0018035
name: syndrome with combined immunodeficiency
subset: ordo_group_of_disorders {source="Orphanet:331217"}
xref: Orphanet:331217 {source="MONDO:equivalentTo"}
xref: UMLS:CN204279 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015823 {source="Orphanet:331217"} ! primary immunodeficiency due to a defect in adaptive immunity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204279
property_value: exactMatch Orphanet:331217

[Term]
id: MONDO:0018036
name: immunodeficiency due to absence of thymus
subset: ordo_group_of_disorders {source="Orphanet:331220"}
xref: ICD10:D81.4 {source="Orphanet:331220", source="ORDO:331220/attributed", source="ORDO:331220/ntbt"}
xref: Orphanet:331220 {source="MONDO:equivalentTo"}
is_a: MONDO:0018035 {source="Orphanet:331220"} ! syndrome with combined immunodeficiency
property_value: exactMatch Orphanet:331220

[Term]
id: MONDO:0018037
name: hyper-IgE syndrome
def: "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." [NCIT:C3144]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:331223"}
synonym: "HIES" EXACT [GARD:0010956]
synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956]
synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144]
xref: GARD:0010956 {source="MONDO:equivalentTo"}
xref: ICD10:D82.4 {source="ORDO:331223/e", source="ORDO:331223/specific", source="Orphanet:331223"}
xref: NCIT:C3144 {source="MONDO:equivalentTo"}
xref: OMIMPS:147060 {source="MONDO:equivalentTo"}
xref: Orphanet:331223 {source="MONDO:equivalentTo"}
xref: UMLS:CN204280 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002468 {source="NCIT:C3144"} ! hyperimmunoglobulin syndrome
is_a: MONDO:0018035 {source="Orphanet:331223"} ! syndrome with combined immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204280
property_value: exactMatch NCIT:C3144
property_value: exactMatch Orphanet:331223

[Term]
id: MONDO:0018038
name: immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
subset: ordo_group_of_disorders {source="Orphanet:331232"}
xref: Orphanet:331232 {source="MONDO:equivalentTo"}
is_a: MONDO:0015132 {source="Orphanet:331232"} ! immunodeficiency predominantly affecting antibody production
property_value: exactMatch Orphanet:331232

[Term]
id: MONDO:0018039
name: selective IgM deficiency
def: "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M ( IgM ) , normal levels of other immunoglobulins , and recurrent infections (especially by Staphylococcus aureus , Streptococcus pneumoniae , Hemophilus influenza ). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines , people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement ." [https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency]
subset: gard_rare {source="GARD:0012547"}
subset: ordo_disease {source="Orphanet:331235"}
synonym: "selective IgM deficiency disease" EXACT [MONDO:0000289]
synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235]
synonym: "SIgMD" RELATED [GARD:0012547]
xref: COHD:434893 {source="MONDO:equivalentTo"}
xref: DOID:0050222 {source="MONDO:equivalentTo"}
xref: GARD:0012547 {source="MONDO:equivalentTo"}
xref: ICD10:D80.4 {source="ORDO:331235/specific", source="Orphanet:331235", source="ORDO:331235/e"}
xref: ICD9:279.02 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:331235 {source="MONDO:equivalentTo"}
xref: SCTID:190980000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0001342 {source="DOID:0050222"} ! dysgammaglobulinemia (disease)
is_a: MONDO:0018038 {source="Orphanet:331235"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
property_value: exactMatch DOID:0050222
property_value: exactMatch http://identifiers.org/snomedct/190980000
property_value: exactMatch Orphanet:331235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency xsd:anyURI {source="GARD:0012547"}

[Term]
id: MONDO:0018040
name: immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
subset: ordo_group_of_disorders {source="Orphanet:331240"}
xref: Orphanet:331240 {source="MONDO:equivalentTo"}
is_a: MONDO:0015132 {source="Orphanet:331240"} ! immunodeficiency predominantly affecting antibody production
property_value: exactMatch Orphanet:331240

[Term]
id: MONDO:0018041
name: other immunodeficiency syndrome with predominantly antibody defects
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:331244"}
xref: ICD10:D80.8 {source="ORDO:331244/specific", source="Orphanet:331244", source="ORDO:331244/e"}
xref: Orphanet:331244 {source="MONDO:equivalentTo"}
xref: UMLS:CN204282 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015132 {source="Orphanet:331244"} ! immunodeficiency predominantly affecting antibody production
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204282
property_value: exactMatch Orphanet:331244

[Term]
id: MONDO:0018042
name: immunodeficiency syndrome with abnormal pigmentation
subset: ordo_group_of_disorders {source="Orphanet:331249"}
synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [Orphanet:331249]
xref: Orphanet:331249 {source="MONDO:equivalentTo"}
xref: UMLS:CN204283 {source="MONDO:equivalentTo"}
is_a: MONDO:0006600 ! pigmentation disease
is_a: MONDO:0015541 {source="Orphanet:331249"} ! genetic hemophagocytic lymphohistiocytosis
is_a: MONDO:0021094 ! immunodeficiency disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204283
property_value: exactMatch Orphanet:331249

[Term]
id: MONDO:0018043
name: Thomas syndrome
def: "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." [Orphanet:3316]
subset: ordo_malformation_syndrome {source="Orphanet:3316"}
synonym: "Potter sequence-cleft lip/palate-cardiopathy syndrome" EXACT [Orphanet:3316]
xref: GARD:0005175 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:3316/attributed", source="ORDO:3316/ntbt", source="Orphanet:3316"}
xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="ORDO:3316/e"}
xref: Orphanet:3316 {source="MONDO:equivalentTo"}
xref: SCTID:716740009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.85/0.54"}
xref: UMLS:C2931225 {source="MONDO:equivalentTo", source="Orphanet:3316", source="ORDO:3316/e"}
is_a: MONDO:0015335 {source="Orphanet:3316"} ! orofacial clefting syndrome
is_a: MONDO:0015506 {source="Orphanet:3316"} ! rare syndrome with cardiac malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019721 {source="Orphanet:3316"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:3316"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536514
property_value: exactMatch http://identifiers.org/snomedct/716740009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931225
property_value: exactMatch Orphanet:3316

[Term]
id: MONDO:0018044
name: idiopathic hypersomnia
def: "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." [Orphanet:33208]
subset: gard_rare {source="GARD:0008737"}
subset: ordo_disease {source="Orphanet:33208"}
synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737]
synonym: "primary hypersomnia" EXACT [Orphanet:33208]
xref: GARD:0008737 {source="MONDO:equivalentTo"}
xref: ICD10:F51.1 {source="ORDO:33208/e", source="Orphanet:33208"}
xref: MESH:D020177 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C116343 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:33208 {source="MONDO:equivalentTo"}
xref: SCTID:3731000119107 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.10"}
xref: UMLS:C0751757 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:33208"}
is_a: MONDO:0005466 {source="NCIT:C116343", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypersomnia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033138
property_value: exactMatch http://identifiers.org/mesh/D020177
property_value: exactMatch http://identifiers.org/snomedct/3731000119107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751757
property_value: exactMatch NCIT:C116343
property_value: exactMatch Orphanet:33208
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia xsd:anyURI {source="GARD:0008737"}

[Term]
id: MONDO:0018045
name: Hoyeraal-Hreidarsson syndrome
def: "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." [Orphanet:3322]
subset: ordo_disease {source="Orphanet:3322"}
synonym: "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia" RELATED [GARD:0000346]
synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346]
synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322]
xref: GARD:0000346 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="Orphanet:3322", source="ORDO:3322/attributed", source="ORDO:3322/ntbt"}
xref: MESH:C536068 {source="ORDO:3322/e", source="Orphanet:3322", source="MONDO:equivalentTo"}
xref: Orphanet:3322 {source="MONDO:equivalentTo"}
xref: SCTID:707276009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846142 {source="ORDO:3322/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:3322", source="MONDO:equivalentTo"}
is_a: MONDO:0010584 {source="MONDOLEX:0018045"} ! dyskeratosis congenita, X-linked
is_a: MONDO:0017118 {source="Orphanet:3322"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C536068
property_value: exactMatch http://identifiers.org/snomedct/707276009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846142
property_value: exactMatch Orphanet:3322

[Term]
id: MONDO:0018046
name: thrombocytopenia-robin sequence syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3323"}
synonym: "Braddock Carey syndrome" RELATED [GARD:0005193]
synonym: "Braddock-Carey syndrome" EXACT [Orphanet:3323]
synonym: "congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" RELATED [GARD:0005193]
synonym: "thrombocytopenia Robin sequence" RELATED [GARD:0005193]
xref: GARD:0005193 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536898 {source="Orphanet:3323", source="ORDO:3323/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3323 {source="MONDO:equivalentTo"}
xref: UMLS:C2931364 {source="Orphanet:3323", source="ORDO:3323/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015335 {source="Orphanet:3323"} ! orofacial clefting syndrome
property_value: exactMatch http://identifiers.org/mesh/C536898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931364
property_value: exactMatch Orphanet:3323

[Term]
id: MONDO:0018047
name: familial thrombomodulin anomalies
subset: gard_rare {source="GARD:0005195"}
subset: ordo_disease {source="Orphanet:3324"}
synonym: "thrombomodulin anomalies, familial" RELATED [GARD:0005195]
xref: GARD:0005195 {source="MONDO:equivalentTo"}
xref: HGNC:11784 {source="GARD:0005195"}
xref: ICD10:D68.8 {source="Orphanet:3324", source="ORDO:3324/attributed", source="ORDO:3324/ntbt"}
xref: MESH:C536900 {source="ORDO:3324/e", source="Orphanet:3324", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3324 {source="MONDO:equivalentTo"}
xref: UMLS:C2931365 {source="ORDO:3324/e", source="Orphanet:3324", source="MONDO:equivalentTo"}
is_a: MONDO:0016633 {source="Orphanet:3324"} ! thrombotic disorder due to a constitutional coagulation factors defect
property_value: exactMatch http://identifiers.org/mesh/C536900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931365
property_value: exactMatch Orphanet:3324
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial xsd:anyURI {source="GARD:0005195"}

[Term]
id: MONDO:0018048
name: heparin-induced thrombocytopenia (disease)
def: "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." [Orphanet:3325]
subset: ordo_disease {source="Orphanet:3325"}
synonym: "HAT" EXACT [Orphanet:3325]
synonym: "heparin-associated thrombocytopenia" EXACT [Orphanet:3325]
synonym: "heparin-induced thrombocytopenia" EXACT [MONDO:ambiguous]
synonym: "heparin-induced thrombocytopenia type 2" EXACT [Orphanet:3325]
synonym: "HIT" EXACT [Orphanet:3325]
xref: COHD:433749 {source="MONDO:equivalentTo"}
xref: GARD:0002650 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011874 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D69.5 {source="Orphanet:3325", source="ORDO:3325/ntbt"}
xref: ICD9:289.84 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10062506 {source="Orphanet:3325", source="ORDO:3325/e"}
xref: Orphanet:3325 {source="MONDO:equivalentTo"}
xref: SCTID:73397007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272285 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:3325", source="ORDO:3325/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016634 {source="Orphanet:3325"} ! thrombotic disorder due to an acquired coagulation factors defect
property_value: exactMatch http://identifiers.org/meddra/10062506
property_value: exactMatch http://identifiers.org/snomedct/73397007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272285
property_value: exactMatch Orphanet:3325

[Term]
id: MONDO:0018049
name: obsolete Kaposi sarcoma
is_obsolete: true
replaced_by: MONDO:0005055

[Term]
id: MONDO:0018050
name: tibial aplasia-ectrodactyly syndrome
def: "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." [Orphanet:3329]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3329"}
synonym: "aplasia of tibia with ectrodactyly" RELATED [GARD:0001369]
synonym: "aplasia of tibia with split-hand/split-foot deformity" EXACT [Orphanet:3329]
synonym: "ectrodactyly with aplasia of long bones" RELATED [GARD:0001369]
synonym: "SHFLD" RELATED [GARD:0001369]
synonym: "SHFLD syndrome" EXACT [Orphanet:3329]
synonym: "SHFM associated with aplasia of long bones" EXACT [Orphanet:3329]
synonym: "split hand/foot malformation with long bone deficiency" EXACT [Orphanet:3329]
synonym: "split-hand/foot malformation associated with aplasia of long bones" EXACT [Orphanet:3329]
synonym: "split-hand/foot malformation with long bone deficiency" RELATED [GARD:0001369]
synonym: "TH-SHFM" EXACT [Orphanet:3329]
synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:0001369]
synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329]
synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329]
xref: GARD:0001369 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="ORDO:3329/attributed", source="ORDO:3329/ntbt", source="Orphanet:3329"}
xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"}
is_a: MONDO:0015335 {source="Orphanet:3329"} ! orofacial clefting syndrome
is_a: MONDO:0017432 {source="Orphanet:3329"} ! syndrome with limb reduction defects
is_a: MONDO:0017433 {source="Orphanet:3329"} ! dysostosis with combined reduction defects of upper and lower limbs
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861553
property_value: exactMatch Orphanet:3329
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia xsd:anyURI {source="GARD:0001369"}

[Term]
id: MONDO:0018051
name: Jessner lymphocytic infiltration of the skin
def: "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." [Orphanet:33314]
subset: gard_rare
subset: ordo_disease {source="Orphanet:33314"}
synonym: "benign chronic T-cell infiltrative disorder" RELATED [GARD:0006940]
synonym: "benign lymphocytic infiltration" RELATED [GARD:0006940]
synonym: "Jessner disease" RELATED [GARD:0006940]
synonym: "Jessner-Kanof lymphocytic infiltration of the skin" EXACT [Orphanet:33314]
synonym: "Jessner-Kanof syndrome" RELATED [GARD:0006940]
synonym: "lymphocytic infiltrate of Jessner" RELATED [GARD:0006940]
xref: GARD:0006940 {source="MONDO:equivalentTo"}
xref: ICD10:L98.6 {source="Orphanet:33314", source="ORDO:33314/ntbt"}
xref: Orphanet:33314 {source="GARD:0006940", source="MONDO:equivalentTo"}
xref: UMLS:C0580181 {source="Orphanet:33314", source="MONDO:equivalentTo"}
is_a: MONDO:0019546 {source="Orphanet:33314"} ! other acquired skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0580181
property_value: exactMatch Orphanet:33314
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner xsd:anyURI {source="GARD:0006940"}

[Term]
id: MONDO:0018052
name: hypoplastic tibiae-postaxial polydactyly syndrome
def: "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands." [Orphanet:3332]
subset: ordo_malformation_syndrome {source="Orphanet:3332"}
synonym: "Werner mesomelic syndrome" EXACT [Orphanet:3332]
xref: ICD10:Q74.8 {source="Orphanet:3332", source="ORDO:3332/attributed", source="ORDO:3332/ntbt"}
xref: Orphanet:3332 {source="MONDO:equivalentTo"}
xref: SCTID:716741008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/10.36"}
xref: UMLS:CN204341 {source="MONDO:equivalentTo"}
is_a: MONDO:0008572 ! tibia, hypoplasia or aplasia of, with polydactyly
is_a: MONDO:0017433 {source="Orphanet:3332"} ! dysostosis with combined reduction defects of upper and lower limbs
property_value: exactMatch http://identifiers.org/snomedct/716741008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204341
property_value: exactMatch Orphanet:3332

[Term]
id: MONDO:0018053
name: trichothiodystrophy
def: "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins)." [Orphanet:33364]
subset: ordo_disease {source="Orphanet:33364"}
synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924]
xref: GARD:0012109 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L67.8 {source="ORDO:33364/attributed", source="ORDO:33364/ntbt", source="Orphanet:33364"}
xref: MedDRA:10044628 {source="ORDO:33364/e", source="Orphanet:33364"}
xref: NCIT:C4924 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.69/2.55"}
xref: OMIMPS:601675 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:33364 {source="MONDO:equivalentTo"}
xref: SCTID:723551003 {source="MONDO:equivalentTo"}
xref: UMLS:C1955934 {source="MONDO:equivalentTo", source="ORDO:33364/e", source="Orphanet:33364", source="NCIT:C4924"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017271 {source="Orphanet:33364"} ! autosomal ichthyosis syndrome with prominent hair abnormalities
is_a: MONDO:0018390 {source="Orphanet:33364"} ! male infertility due to sperm disorder
is_a: MONDO:0019282 {source="Orphanet:33364"} ! syndromic hair shaft abnormality
is_a: MONDO:0019287 {source="Orphanet:33364"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/meddra/10044628
property_value: exactMatch http://identifiers.org/mesh/C536559
property_value: exactMatch http://identifiers.org/mesh/D054463
property_value: exactMatch http://identifiers.org/snomedct/723551003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0740342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1955934
property_value: exactMatch NCIT:C4924
property_value: exactMatch Orphanet:33364

[Term]
id: MONDO:0018054
name: familial atrial fibrillation
def: "an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation]
comment: Editor note: DO def states this as being in ATFB but this is not correct
subset: ordo_disease {source="Orphanet:334"}
synonym: "ATFB" EXACT [DOID:0050650]
synonym: "atrial fibrillation autosomal dominant" RELATED [GARD:0009740]
synonym: "atrial fibrillation, familial" RELATED [GARD:0009740, OMIMPS:608583]
synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740]
synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:0050650 {source="MONDO:equivalentTo"}
xref: GARD:0009740 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I48.9 {source="Orphanet:334", source="ORDO:334/attributed", source="ORDO:334/ntbt"}
xref: OMIMPS:608583 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"}
xref: SCTID:715395008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN204347 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004981 {source="DOID", source="DOID:0050650", source="MONDO:Redundant", source="linkedlifedata"} ! atrial fibrillation (disease)
is_a: MONDO:0015110 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:334"} ! genetic cardiac rhythm disease
intersection_of: MONDO:0004981 ! atrial fibrillation (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:0050650
property_value: exactMatch http://identifiers.org/snomedct/715395008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204347
property_value: exactMatch Orphanet:334

[Term]
id: MONDO:0018055
name: pediatric hepatocellular carcinoma
def: "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." [Orphanet:33402]
subset: ordo_clinical_subtype {source="Orphanet:33402"}
synonym: "childhood carcinoma of liver cell" RELATED [GARD:0009331]
synonym: "childhood carcinoma of the liver cell" EXACT [NCIT:C7955]
synonym: "childhood hepatocellular carcinoma" EXACT [DOID:0070322]
synonym: "childhood hepatocellular carcinoma" RELATED [GARD:0009331]
synonym: "childhood hepatoma" RELATED [GARD:0009331]
synonym: "childhood liver cell carcinoma" RELATED [GARD:0009331]
synonym: "childhood-onset HCC" EXACT [Orphanet:33402]
synonym: "childhood-onset hepatocellular carcinoma" EXACT [Orphanet:33402]
synonym: "hepatocellular cancer" EXACT [NCIT:C7955]
synonym: "pediatric carcinoma of liver cell" RELATED [GARD:0009331]
synonym: "Pediatric carcinoma of the liver cell" EXACT [NCIT:C7955]
synonym: "pediatric HCC" EXACT [Orphanet:33402]
synonym: "pediatric hepatoma" RELATED [GARD:0009331]
synonym: "pediatric liver cell carcinoma" RELATED [GARD:0009331]
xref: DOID:0070322 {source="MONDO:equivalentTo"}
xref: GARD:0009331 {source="DOID:0070322", source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C22.0 {source="Orphanet:33402", source="ORDO:33402/ntbt"}
xref: NCIT:C7955 {source="DOID:0070322", source="MONDO:equivalentTo"}
xref: ORDO:33402 {source="DOID:0070322"}
xref: Orphanet:33402 {source="MONDO:equivalentTo"}
xref: UMLS:CN204349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006517 ! childhood malignant neoplasm
is_a: MONDO:0007256 {source="DOID:0070322", source="NCIT:C7955", source="Orphanet:33402"} ! hepatocellular carcinoma
property_value: exactMatch DOID:0070322
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204349
property_value: exactMatch NCIT:C7955
property_value: exactMatch Orphanet:33402

[Term]
id: MONDO:0018056
name: bullous lichen planus
def: "Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions." [Orphanet:33408]
subset: ordo_disease {source="Orphanet:33408"}
xref: ICD10:L43.1 {source="ORDO:33408/e", source="MONDO:equivalentTo", source="Orphanet:33408"}
xref: MedDRA:10056960 {source="ORDO:33408/e", source="Orphanet:33408"}
xref: NCIT:C34778 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:33408 {source="MONDO:equivalentTo"}
xref: SCTID:6111009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0023648 {source="ORDO:33408/e", source="MONDO:equivalentTo", source="Orphanet:33408", source="NCIT:C34778"}
is_a: MONDO:0016767 {source="Orphanet:33408"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/meddra/10056960
property_value: exactMatch http://identifiers.org/snomedct/6111009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023648
property_value: exactMatch NCIT:C34778
property_value: exactMatch Orphanet:33408

[Term]
id: MONDO:0018057
name: obsolete toxocariasis
is_obsolete: true
replaced_by: MONDO:0005988

[Term]
id: MONDO:0018058
name: tracheal agenesis
def: "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." [Orphanet:3346]
subset: gard_rare {source="GARD:0005233"}
subset: ordo_morphological_anomaly {source="Orphanet:3346"}
synonym: "congenital absence of trachea" EXACT [NCIT:C35376]
synonym: "congenital tracheal agenesis" RELATED [GARD:0005233]
synonym: "tracheal absence" EXACT [NCIT:C35376]
xref: GARD:0005233 {source="MONDO:equivalentTo"}
xref: ICD10:Q32.1 {source="Orphanet:3346", source="ORDO:3346/ntbt"}
xref: MESH:C536975 {source="ORDO:3346/e", source="Orphanet:3346", source="MONDO:equivalentTo"}
xref: NCIT:C35376 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:3346 {source="MONDO:equivalentTo"}
xref: SCTID:3987009 {source="MONDO:equivalentTo"}
xref: UMLS:C1261567 {source="ORDO:3346/e", source="Orphanet:3346", source="MONDO:equivalentTo", source="NCIT:C35376"}
is_a: MONDO:0015221 {source="Orphanet:3346"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015505 {source="Orphanet:3346"} ! tracheal anomaly
is_a: MONDO:0015930 {source="Orphanet:3346"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/mesh/C536975
property_value: exactMatch http://identifiers.org/snomedct/3987009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1261567
property_value: exactMatch NCIT:C35376
property_value: exactMatch Orphanet:3346
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis xsd:anyURI {source="GARD:0005233"}

[Term]
id: MONDO:0018059
name: meningococcal meningitis
def: "that presents usually but not always with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." [Orphanet:33475]
subset: ordo_disease {source="Orphanet:33475"}
xref: COHD:438338 {source="MONDO:equivalentTo"}
xref: DOID:0080176 {source="MONDO:equivalentTo"}
xref: EFO:1001040 {source="MONDO:equivalentTo"}
xref: ICD10:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="EFO:1001040"}
xref: ICD10:A39.0+ {source="ORDO:33475/e", source="Orphanet:33475"}
xref: ICD10:G01* {source="ORDO:33475/e", source="Orphanet:33475"}
xref: ICD9:036.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="i2s", source="EFO:1001040"}
xref: MedDRA:10027249 {source="ORDO:33475/e", source="Orphanet:33475"}
xref: MedDRA:10027276 {source="EFO:1001040"}
xref: MESH:D008585 {source="DOID:0080176", source="MONDO:equivalentTo", source="ORDO:33475/e", source="MONDO:ontobio", source="EFO:1001040", source="Orphanet:33475"}
xref: Orphanet:33475 {source="MONDO:equivalentTo"}
xref: SCTID:192644005 {source="MONDO:equivalentTo", source="EFO:1001040", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0025294 {source="MONDO:equivalentTo", source="ORDO:33475/e", source="Orphanet:33475"}
is_a: MONDO:0006670 {source="DOID:0080176", source="MESH:D008585", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis
is_a: MONDO:0015659 {source="Orphanet:33475"} ! infectious disease with epilepsy
property_value: closeMatch DOID:9929
property_value: closeMatch http://identifiers.org/meddra/10027276
property_value: exactMatch DOID:0080176
property_value: exactMatch http://identifiers.org/meddra/10027249
property_value: exactMatch http://identifiers.org/mesh/D008585
property_value: exactMatch http://identifiers.org/snomedct/192644005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025294
property_value: exactMatch Orphanet:33475

[Term]
id: MONDO:0018060
name: congenital fibrinogen deficiency
def: "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." [Orphanet:335]
subset: gard_rare {source="GARD:0002320"}
subset: ordo_disease {source="Orphanet:335"}
synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320]
xref: GARD:0002320 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="Orphanet:335", source="ORDO:335/attributed", source="ORDO:335/ntbt"}
xref: Orphanet:335 {source="MONDO:equivalentTo"}
is_a: MONDO:0019039 {source="Orphanet:335"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2062367
property_value: exactMatch Orphanet:335
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital xsd:anyURI {source="GARD:0002320"}

[Term]
id: MONDO:0018061
name: trichodermodysplasia-dental alterations syndrome
def: "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." [Orphanet:3353]
subset: ordo_malformation_syndrome {source="Orphanet:3353"}
synonym: "Pinheiro Freire-Maia Miranda syndrome" RELATED [GARD:0004369]
synonym: "Pinheiro-Freire Maia-Miranda syndrome" EXACT [Orphanet:3353]
synonym: "Trichodermodysplasia with dental alterations" RELATED [GARD:0004369]
xref: GARD:0004369 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C537402 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3353 {source="MONDO:equivalentTo"}
xref: UMLS:C2931485 {source="Orphanet:3353", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:3353"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C537402", source="Orphanet:3353"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931485
property_value: exactMatch Orphanet:3353

[Term]
id: MONDO:0018062
name: autosomal dominant trichoodontoonychodysplasia-syndactyly
subset: ordo_malformation_syndrome {source="Orphanet:3357"}
synonym: "ectodermal dysplasia with corkscrew hairs" RELATED [GARD:0005376]
synonym: "Tricho-odonto-onychodysplasia with syndactyly" RELATED [GARD:0005376]
synonym: "Trueb Burg Bottani syndrome" RELATED [GARD:0005376]
synonym: "Trueb-Burg-Bottani syndrome" EXACT [Orphanet:3357]
xref: GARD:0005376 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536565 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3357 {source="MONDO:equivalentTo"}
xref: UMLS:C2931239 {source="Orphanet:3357", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0015336 {source="Orphanet:3357"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="MESH:C536565", source="MONDOLEX:0018062", source="Orphanet:3357"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931239
property_value: exactMatch Orphanet:3357

[Term]
id: MONDO:0018063
name: nodular non-suppurative panniculitis
def: "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." [Orphanet:33577]
subset: ordo_disease {source="Orphanet:33577"}
synonym: "idiopathic lobular panniculitis" EXACT [Orphanet:33577]
synonym: "idiopathic nodular panniculitis" EXACT [Orphanet:33577]
synonym: "nodular non-suppurative febrile panniculitis" EXACT [DOID:1525]
synonym: "nodular nonsuppurative panniculitis" EXACT [MONDO:0006587]
synonym: "panniculitis nodular nonsuppurative" RELATED [GARD:0007879]
synonym: "Pfeiffer-Weber-Christian syndrome" EXACT [Orphanet:33577]
synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [Orphanet:33577]
synonym: "Relapsing febrile nodular panniculitis" EXACT [Orphanet:33577]
synonym: "WCD" EXACT [Orphanet:33577]
synonym: "Weber - Christian disease" EXACT [DOID:1525]
synonym: "Weber Christian disease" RELATED [GARD:0007879]
synonym: "Weber-Christian disease" EXACT [DOID:1525, MTHICD9_2006:729.30, Orphanet:33577]
synonym: "Weber-Christian panniculitis" EXACT [Orphanet:33577]
xref: DOID:1525 {source="MONDO:equivalentTo", source="EFO:1000742"}
xref: EFO:1000742 {source="MONDO:equivalentTo"}
xref: GARD:0007879 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M35.6 {source="Orphanet:33577", source="DOID:1525", source="ORDO:33577/e"}
xref: MedDRA:10047883 {source="Orphanet:33577", source="ORDO:33577/e"}
xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="DOID:1525", source="ORDO:33577/e"}
xref: Orphanet:33577 {source="MONDO:equivalentTo"}
xref: SCTID:33760009 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="DOID:1525"}
xref: UMLS:C0030328 {source="Orphanet:33577", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="DOID:1525", source="ORDO:33577/e"}
is_a: MONDO:0006591 {source="DOID:1525", source="EFO:1000742", source="MESH:D010201", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis
is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disease
property_value: closeMatch http://identifiers.org/snomedct/203120002
property_value: closeMatch http://identifiers.org/snomedct/203121003
property_value: exactMatch DOID:1525
property_value: exactMatch http://identifiers.org/meddra/10047883
property_value: exactMatch http://identifiers.org/mesh/D010201
property_value: exactMatch http://identifiers.org/snomedct/33760009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030328
property_value: exactMatch Orphanet:33577

[Term]
id: MONDO:0018064
name: trigonocephaly-broad thumbs syndrome
def: "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." [Orphanet:3365]
subset: ordo_malformation_syndrome {source="Orphanet:3365"}
synonym: "Hunter Rudd Hoffmann syndrome" RELATED [GARD:0002756]
synonym: "Hunter-Rudd-Hoffmann syndrome" EXACT [Orphanet:3365]
xref: GARD:0002756 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="Orphanet:3365", source="ORDO:3365/attributed", source="ORDO:3365/ntbt"}
xref: Orphanet:3365 {source="MONDO:equivalentTo"}
xref: SCTID:719949001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0015338 {source="Orphanet:3365"} ! syndromic craniosynostosis
property_value: exactMatch http://identifiers.org/snomedct/719949001
property_value: exactMatch Orphanet:3365

[Term]
id: MONDO:0018065
name: isolated trigonocephaly
def: "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." [Orphanet:3366]
subset: ordo_morphological_anomaly {source="Orphanet:3366"}
synonym: "non-syndromic metopic craniosynostosis" EXACT [Orphanet:3366]
synonym: "nonsyndromic trigonocephaly" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3366", source="ORDO:3366/inclusion", source="ORDO:3366/ntbt"}
xref: OMIMPS:190440 {source="DC:0000606", source="MONDO:equivalentTo"}
xref: Orphanet:3366 {source="MONDO:equivalentTo"}
xref: UMLS:CN236409 {source="MONDO:equivalentTo"}
xref: UMLS:CN239481 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000156 ! trigonocephaly
is_a: MONDO:0015337 {source="Orphanet:3366"} ! isolated craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:3366"} ! craniostenosis associated with a strabismus
intersection_of: MONDO:0000156 ! trigonocephaly
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239481
property_value: exactMatch Orphanet:3366

[Term]
id: MONDO:0018066
name: trisomy X
def: "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." [Orphanet:3375]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3375"}
synonym: "47 XXX syndrome" RELATED [GARD:0005672]
synonym: "47,XXX" EXACT [NCIT:C129718]
synonym: "47,XXX syndrome" EXACT [Orphanet:3375]
synonym: "triple X syndrome" EXACT [GARD:0005672, Orphanet:3375]
synonym: "triple-X chromosome syndrome" RELATED [GARD:0005672]
synonym: "triple-X female" RELATED [GARD:0005672]
synonym: "Triplo X syndrome" RELATED [GARD:0005672]
synonym: "Triplo-X syndrome" EXACT [Orphanet:3375]
synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375]
synonym: "trisomy X" EXACT [GARD:0005672]
synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375]
xref: GARD:0005672 {source="MONDO:equivalentTo"}
xref: ICD10:Q97.0 {source="Orphanet:3375", source="ORDO:3375/specific", source="ORDO:3375/e"}
xref: MESH:C535318 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C129718 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:3375 {source="MONDO:equivalentTo", source="GARD:0005672"}
xref: SCTID:35111009 {source="MONDO:equivalentTo"}
xref: UMLS:C0221033 {source="Orphanet:3375", source="MONDO:equivalentTo", source="GARD:0005672", source="ORDO:3375/e", source="NCIT:C129718"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0018066", source="NCIT:C129718"} ! syndromic disease
is_a: MONDO:0017002 {source="Orphanet:3375"} ! polysomy of X chromosome
is_a: MONDO:0018413 {source="Orphanet:3375"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019852 {source="Orphanet:3375"} ! inherited primary ovarian failure
property_value: exactMatch http://identifiers.org/mesh/C535318
property_value: exactMatch http://identifiers.org/mesh/D014314
property_value: exactMatch http://identifiers.org/snomedct/35111009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221033
property_value: exactMatch NCIT:C129718
property_value: exactMatch Orphanet:3375
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome xsd:anyURI {source="GARD:0005672"}

[Term]
id: MONDO:0018067
name: triploidy
def: "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic . The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/5295/triploidy]
subset: gard_rare {source="GARD:0005295"}
subset: ordo_malformation_syndrome {source="Orphanet:3376"}
synonym: "chromosome triploidy syndrome" RELATED [GARD:0005295]
synonym: "triploid syndrome" RELATED [GARD:0005295]
synonym: "triploidy syndrome" RELATED [GARD:0005295]
xref: GARD:0005295 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.7 {source="Orphanet:3376", source="ORDO:3376/attributed", source="ORDO:3376/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D057885 {source="Orphanet:3376", source="ORDO:3376/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85204 {source="MONDO:equivalentTo"}
xref: Orphanet:3376 {source="MONDO:equivalentTo"}
xref: SCTID:66651005 {source="MONDO:kboom-pr-1.00/0.79/8.42", source="MONDO:equivalentTo"}
xref: UMLS:C0333693 {source="Orphanet:3376", source="ORDO:3376/e", source="MONDO:equivalentTo"}
is_a: MONDO:0016565 {source="Orphanet:3376"} ! syndromic genetic obesity
is_a: MONDO:0019934 {source="MESH:D057885", source="Orphanet:3376", source="linkedlifedata"} ! polyploidy
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3376"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/mesh/D057885
property_value: exactMatch http://identifiers.org/snomedct/66651005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333693
property_value: exactMatch NCIT:C85204
property_value: exactMatch Orphanet:3376
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5295/triploidy xsd:anyURI {source="GARD:0005295"}

[Term]
id: MONDO:0018068
name: trisomy 13
def: "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." [Orphanet:3378]
subset: ordo_malformation_syndrome {source="Orphanet:3378"}
synonym: "chromosome 13, trisomy 13 complete" RELATED [GARD:0007341]
synonym: "complete trisomy 13 syndrome" EXACT [NCIT:C101223]
synonym: "D trisomy syndrome (formerly)" RELATED [GARD:0007341]
synonym: "D1 trisomy" EXACT [DOID:11665, NCIT:C36529]
synonym: "Patau syndrome" EXACT [MONDO:0001333, NCIT:C101223, Orphanet:3378]
synonym: "Patau's syndrome" EXACT [DOID:11665, ICD9CM_2006:758.1]
synonym: "trisomy 13" EXACT [DOID:11665]
synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378]
xref: DOID:11665 {source="MONDO:equivalentTo"}
xref: GARD:0007341 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q91.4 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"}
xref: ICD10:Q91.5 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"}
xref: ICD10:Q91.6 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"}
xref: ICD10:Q91.7 {source="DOID:11665", source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"}
xref: ICD9:758.1 {source="DOID:11665", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10044686 {source="Orphanet:3378", source="ORDO:3378/e"}
xref: MESH:C536305 {source="DOID:11665", source="MONDO:equivalentTo"}
xref: NCIT:C101223 {source="DOID:11665", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C36529 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="kboom:pr0.85-conf12.42"}
xref: Orphanet:3378 {source="MONDO:equivalentTo"}
xref: SCTID:21111006 {source="DOID:11665", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.45/0.13"}
xref: UMLS:C0152095 {source="DOID:11665", source="MEDGEN:kboom-pr98-c99", source="Orphanet:3378", source="MONDO:equivalentTo", source="NCIT:C101223"}
xref: UMLS:CN204386 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015216 {source="Orphanet:3378"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015246 {source="Orphanet:3378"} ! syndromic anorectal malformation
is_a: MONDO:0019721 {source="Orphanet:3378"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020051 {source="Orphanet:3378"} ! total autosomal trisomy
is_a: MONDO:0020247 {source="Orphanet:3378"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0020253 {source="Orphanet:3378"} ! syndrome with a symptomatic strabismus
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3378"} ! chromosomal anomaly with cataract
property_value: closeMatch http://identifiers.org/snomedct/156995003
property_value: closeMatch http://identifiers.org/snomedct/157021007
property_value: closeMatch http://identifiers.org/snomedct/205622008
property_value: closeMatch http://identifiers.org/snomedct/254267009
property_value: closeMatch http://identifiers.org/snomedct/268344000
property_value: closeMatch http://identifiers.org/snomedct/268357008
property_value: exactMatch DOID:11665
property_value: exactMatch http://identifiers.org/meddra/10044686
property_value: exactMatch http://identifiers.org/mesh/C536305
property_value: exactMatch http://identifiers.org/snomedct/21111006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152095
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204386
property_value: exactMatch NCIT:C101223
property_value: exactMatch NCIT:C36529
property_value: exactMatch Orphanet:3378

[Term]
id: MONDO:0018069
name: distal trisomy 17q
def: "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." [Orphanet:3379]
subset: ordo_malformation_syndrome {source="Orphanet:3379"}
synonym: "distal duplication 17q" EXACT [Orphanet:3379]
synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379]
synonym: "telomeric duplication 17q" EXACT [Orphanet:3379]
synonym: "trisomy 17qter" EXACT [Orphanet:3379]
xref: ICD10:Q92.3 {source="Orphanet:3379", source="ORDO:3379/attributed", source="ORDO:3379/ntbt"}
xref: Orphanet:3379 {source="MONDO:equivalentTo"}
xref: SCTID:766051001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016967 {source="MONDOLEX:0018069", source="Orphanet:3379"} ! partial duplication of the long arm of chromosome 17
property_value: exactMatch http://identifiers.org/mesh/C536579
property_value: exactMatch http://identifiers.org/snomedct/766051001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931247
property_value: exactMatch Orphanet:3379

[Term]
id: MONDO:0018070
name: familial multiple fibrofolliculoma
def: "Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." [Orphanet:338]
subset: gard_rare {source="GARD:0003831"}
subset: ordo_disease {source="Orphanet:338"}
synonym: "multiple fibrofolliculoma familial" RELATED [GARD:0003831]
xref: GARD:0003831 {source="MONDO:equivalentTo"}
xref: Orphanet:338 {source="MONDO:equivalentTo"}
xref: SCTID:723361006 {source="MONDO:equivalentTo"}
xref: UMLS:C4509837 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204388 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015950 {source="Orphanet:338", source="indirect"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:338"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/snomedct/723361006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4509837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204388
property_value: exactMatch Orphanet:338
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial xsd:anyURI {source="GARD:0003831"}

[Term]
id: MONDO:0018071
name: trisomy 18
def: "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." [Orphanet:3380]
subset: ordo_malformation_syndrome {source="Orphanet:3380"}
synonym: "18 trisomy" RELATED [GARD:0006321]
synonym: "chromosome 18 duplication" EXACT [Orphanet:3380]
synonym: "chromosome 18 trisomy" RELATED [GARD:0006321]
synonym: "complete trisomy 18 syndrome" EXACT [DOID:1085]
synonym: "E3 trisomy" EXACT [DOID:1085, NCIT:C36626]
synonym: "Edwards syndrome" EXACT [MONDO:0001140, Orphanet:3380]
synonym: "trisomy 16-18 (formerly)" RELATED [GARD:0006321]
synonym: "trisomy 18" EXACT [DOID:1085]
synonym: "trisomy E (formerly)" RELATED [GARD:0006321]
synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380]
xref: DOID:1085 {source="MONDO:equivalentTo"}
xref: GARD:0006321 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q91.0 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"}
xref: ICD10:Q91.1 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"}
xref: ICD10:Q91.2 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"}
xref: ICD10:Q91.3 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific", source="DOID:1085"}
xref: ICD9:758.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:1085"}
xref: MedDRA:10053884 {source="ORDO:3380/e", source="Orphanet:3380"}
xref: MESH:C580500 {source="MONDO:equivalentTo", source="DOID:1085"}
xref: NCIT:C36626 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: Orphanet:3380 {source="MONDO:equivalentTo"}
xref: SCTID:51500006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.18", source="DOID:1085"}
xref: UMLS:C0152096 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:3380/e", source="Orphanet:3380", source="DOID:1085"}
is_a: MONDO:0015216 {source="Orphanet:3380"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015246 {source="Orphanet:3380"} ! syndromic anorectal malformation
is_a: MONDO:0019721 {source="Orphanet:3380"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020051 {source="Orphanet:3380"} ! total autosomal trisomy
relationship: excluded_subClassOf MONDO:0020186 {source="Orphanet:3380"} ! obsolete eyebrow hypertrophy
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:3380"} ! obsolete eyebrow/eyelashes distichiasis
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3380"} ! chromosomal anomaly with cataract
property_value: closeMatch http://identifiers.org/snomedct/157022000
property_value: closeMatch http://identifiers.org/snomedct/205626006
property_value: closeMatch http://identifiers.org/snomedct/254265001
property_value: closeMatch NCIT:C101362
property_value: exactMatch DOID:1085
property_value: exactMatch http://identifiers.org/meddra/10053884
property_value: exactMatch http://identifiers.org/mesh/C580500
property_value: exactMatch http://identifiers.org/snomedct/51500006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152096
property_value: exactMatch NCIT:C36626
property_value: exactMatch Orphanet:3380

[Term]
id: MONDO:0018072
name: persistent truncus arteriosus (disease)
def: "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." [NCIT:C98880]
subset: ordo_morphological_anomaly {source="Orphanet:3384"}
synonym: "common aorticopulmonary trunk" EXACT [Orphanet:3384]
synonym: "common arterial trunk" EXACT [Orphanet:3384]
synonym: "common truncus arteriosus" EXACT [NCIT:C98880]
synonym: "persistent truncus arteriosus" EXACT [NCIT:C98880]
synonym: "TAC" EXACT [Orphanet:3384]
synonym: "truncus arteriosus" EXACT [NCIT:C98880]
xref: COHD:441950 {source="MONDO:equivalentTo"}
xref: GARD:0007375 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.0 {source="ORDO:3384/specific", source="ORDO:3384/e", source="Orphanet:3384"}
xref: NCIT:C98880 {source="MONDO:equivalentTo"}
xref: Orphanet:3384 {source="MONDO:equivalentTo"}
is_a: MONDO:0005453 {source="NCIT:C98880"} ! congenital heart disease
is_a: MONDO:0016581 {source="Orphanet:3384"} ! conotruncal heart malformations
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} ! obsolete genetic cardiac malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041207
property_value: exactMatch NCIT:C98880
property_value: exactMatch Orphanet:3384

[Term]
id: MONDO:0018074
name: obsolete American trypanosomiasis
is_obsolete: true
replaced_by: MONDO:0001444

[Term]
id: MONDO:0018075
name: neural tube defect
def: "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." [NCIT:C84923]
subset: ordo_group_of_disorders {source="Orphanet:3388"}
synonym: "NTD" EXACT [NCIT:C84923]
synonym: "spinal dysraphism" EXACT [NCIT:C84923]
xref: DOID:0080074 {source="MONDO:equivalentTo"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009436 {source="MONDO:equivalentTo"}
xref: NCIT:C84923 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.14"}
xref: Orphanet:3388 {source="MONDO:equivalentTo"}
xref: SCTID:253098009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020022 {source="MESH:D009436", source="Orphanet:3388/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:3388"} ! non-syndromic central nervous system malformation
relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:3388", source="Orphanet:3388/inferred"} ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027794
property_value: exactMatch DOID:0080074
property_value: exactMatch http://identifiers.org/mesh/D009436
property_value: exactMatch http://identifiers.org/snomedct/253098009
property_value: exactMatch NCIT:C84923
property_value: exactMatch Orphanet:3388

[Term]
id: MONDO:0018076
name: tuberculosis
def: "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." [NCIT:C3423]
subset: gard_rare {source="GARD:0007827"}
subset: ordo_disease {source="Orphanet:3389"}
synonym: "active tuberculosis" EXACT [NCIT:C3423]
synonym: "Kochs disease" RELATED [GARD:0007827]
synonym: "TB" RELATED [GARD:0007827]
synonym: "tuberculosis disease" EXACT [NCIT:C3423]
xref: COHD:434557 {source="MONDO:equivalentTo"}
xref: DOID:399 {source="MONDO:equivalentTo"}
xref: GARD:0007827 {source="MONDO:equivalentTo"}
xref: ICD10:A15.A19 {source="MONDO:equivalentTo"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:017.92 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:017.94 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:017.96 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044755 {source="Orphanet:3389", source="ORDO:3389/e"}
xref: MESH:D014376 {source="Orphanet:3389", source="ORDO:3389/e", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:399"}
xref: NCIT:C3423 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:3389 {source="MONDO:equivalentTo"}
xref: SCTID:56717001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.24"}
xref: UMLS:C0041296 {source="Orphanet:3389", source="ORDO:3389/e", source="MONDO:equivalentTo", source="NCIT:C3423"}
xref: UMLS:C0151332 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000314 {source="DOID:399"} ! primary bacterial infectious disease
is_a: MONDO:0020590 ! mycobacterial infectious disease
disjoint_from: MONDO:0018469 ! pulmonary non-tuberculous mycobacterial infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:399
property_value: exactMatch http://identifiers.org/meddra/10044755
property_value: exactMatch http://identifiers.org/mesh/D014376
property_value: exactMatch http://identifiers.org/snomedct/56717001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041296
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151332
property_value: exactMatch NCIT:C3423
property_value: exactMatch Orphanet:3389
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7827/tuberculosis xsd:anyURI {source="GARD:0007827"}

[Term]
id: MONDO:0018077
name: tularemia
def: "Tularemia is an infection caused by the bacterium Francisella tularensis . It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." [https://rarediseases.info.nih.gov/diseases/396/tularemia]
subset: gard_rare {source="GARD:0000396"}
subset: ordo_disease {source="Orphanet:3392"}
synonym: "Deerfly fever" RELATED [GARD:0000396]
synonym: "Francisella tularensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Francisella tularensis disease or disorder" EXACT []
synonym: "Francisella tularensis infection" RELATED [GARD:0000396]
synonym: "Francisella tularensis infectious disease" EXACT []
synonym: "lemming fever" RELATED [GARD:0000396]
synonym: "Ohara disease" RELATED [GARD:0000396]
synonym: "Pahvant Valley plague" RELATED [GARD:0000396]
synonym: "rabbit fever" RELATED [GARD:0000396]
synonym: "Yatobyo (Japan)" RELATED [GARD:0000396]
xref: DOID:2123 {source="MONDO:equivalentTo"}
xref: EFO:1001444 {source="MONDO:equivalentTo"}
xref: GARD:0000396 {source="MONDO:equivalentTo"}
xref: ICD10:A21 {source="MONDO:equivalentTo"}
xref: ICD10:A21.0 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"}
xref: ICD10:A21.1 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"}
xref: ICD10:A21.2 {source="ORDO:3392/btnt", source="Orphanet:3392"}
xref: ICD10:A21.3 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"}
xref: ICD10:A21.7 {source="ORDO:3392/btnt", source="Orphanet:3392"}
xref: ICD10:A21.8 {source="ORDO:3392/btnt", source="Orphanet:3392"}
xref: ICD10:A21.9 {source="ORDO:3392/btnt", source="Orphanet:3392"}
xref: ICD9:021.8 {source="DOID:2123"}
xref: ICD9:021.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10045146 {source="Orphanet:3392", source="ORDO:3392/e"}
xref: MESH:D014406 {source="DOID:2123", source="MONDO:equivalentTo", source="Orphanet:3392", source="MONDO:ontobio", source="ORDO:3392/e"}
xref: NCIT:C85208 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:3392 {source="MONDO:equivalentTo"}
xref: SCTID:19265001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: UMLS:C0041351 {source="NCIT:C85208", source="MONDO:equivalentTo", source="Orphanet:3392", source="ORDO:3392/e"}
is_a: MONDO:0000314 {source="DOID:2123"} ! primary bacterial infectious disease
is_a: MONDO:0100120 {comment="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/111834003
property_value: closeMatch http://identifiers.org/snomedct/186298002
property_value: closeMatch http://identifiers.org/snomedct/186299005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029835
property_value: exactMatch DOID:2123
property_value: exactMatch http://identifiers.org/meddra/10045146
property_value: exactMatch http://identifiers.org/mesh/D014406
property_value: exactMatch http://identifiers.org/snomedct/19265001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041351
property_value: exactMatch NCIT:C85208
property_value: exactMatch Orphanet:3392
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/396/tularemia xsd:anyURI {source="GARD:0000396"}

[Term]
id: MONDO:0018078
name: soft tissue sarcoma
def: "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." [NCIT:C9306]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:3394"}
synonym: "connective tissue sarcoma" EXACT [NCIT:C9306]
synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394]
synonym: "malignant soft tissue tumor" EXACT [Orphanet:3394]
synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [NCIT:C9306]
synonym: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" RELATED EXCLUDE [NCIT:C9306]
synonym: "sarcoma of soft tissue" EXACT [NCIT:C9306]
synonym: "sarcoma of the soft tissue" EXACT [NCIT:C9306]
synonym: "soft part sarcoma" EXACT [Orphanet:3394]
synonym: "soft tissue sarcoma" EXACT [NCIT:C9306]
xref: EFO:1001968 {source="MONDO:equivalentTo"}
xref: GARD:0004898 {source="MONDO:equivalentTo"}
xref: NCIT:C9306 {source="MONDO:equivalentTo"}
xref: Orphanet:3394 {source="MONDO:equivalentTo"}
xref: SCTID:424952003 {source="MONDO:equivalentTo"}
xref: UMLS:CN204398 {source="MONDO:equivalentTo"}
is_a: MONDO:0005089 {source="EFO:1001968", source="NCIT:C9306", source="linkedlifedata"} ! sarcoma
is_a: MONDO:0024637 {source="MONDOLEX:0018078", source="NCIT:C9306", source="linkedlifedata"} ! malignant soft tissue neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334492
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1261473
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2211494
property_value: exactMatch http://identifiers.org/snomedct/424952003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204398
property_value: exactMatch NCIT:C9306
property_value: exactMatch Orphanet:3394

[Term]
id: MONDO:0018079
name: thymic epithelial neoplasm
def: "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." [NCIT:C6450]
subset: ordo_group_of_disorders {source="Orphanet:3398"}
synonym: "epithelial neoplasm of the Thymus" EXACT [NCIT:C6450]
synonym: "epithelial neoplasm of Thymus" EXACT [NCIT:C6450]
synonym: "epithelial tumor of the Thymus" EXACT [NCIT:C6450]
synonym: "epithelial tumor of Thymus" EXACT [NCIT:C6450]
synonym: "TEN" EXACT [Orphanet:3398]
synonym: "Tet" RELATED [ONCOTREE:TET]
synonym: "thymic epithelial tumor" EXACT [NCIT:C6450, Orphanet:3398]
synonym: "thymic epithelium neoplasm" EXACT [NCIT:C6450]
synonym: "thymoma, adult" RELATED [GARD:0005201]
synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450]
synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450]
xref: GARD:0005201 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:C37 {source="Orphanet:3398", source="ORDO:3398/ntbt"}
xref: ICD10:D15.0 {source="Orphanet:3398", source="ORDO:3398/ntbt", source="MONDO:directSiblingOf"}
xref: MESH:C536905 {source="Orphanet:3398", source="ORDO:3398/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6450 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: ONCOTREE:TET {source="MONDO:equivalentTo"}
xref: Orphanet:3398 {source="MONDO:equivalentTo"}
xref: UMLS:C1266101 {source="NCIT:C6450", source="Orphanet:3398", source="ORDO:3398/e", source="MONDO:equivalentTo"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C6450", source="ONCOTREE:TET", source="Orphanet:3398"} ! thymus neoplasm
is_a: MONDO:0005626 {source="MESH:C536905", source="MONDO:Redundant", source="MONDOLEX:0018079", source="NCIT:C6450"} ! epithelial neoplasm
property_value: exactMatch http://identifiers.org/mesh/C536905
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266101
property_value: exactMatch NCIT:C6450
property_value: exactMatch Orphanet:3398

[Term]
id: MONDO:0018080
name: obsolete rare germ cell tumor
def: "Rare germ cell tumor." [MONDO:patterns/rare]
comment: Editor note: consider merging to parent
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:3399"}
synonym: "germ cell tumor" BROAD [Orphanet:3399]
synonym: "rare germ cell tumor" EXACT [MONDO:patterns/rare]
xref: Orphanet:3399 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:402878003 {source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-0.90/0.77/0.29"}
property_value: exactMatch http://identifiers.org/snomedct/402878003
property_value: exactMatch Orphanet:3399
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005040
consider: UMLS:C0740345 {source="Orphanet:3399"}

[Term]
id: MONDO:0018081
name: hemorrhagic fever-renal syndrome
def: "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." [Orphanet:340]
subset: ordo_disease {source="Orphanet:340"}
synonym: "Hantavirosis" EXACT [Orphanet:340]
synonym: "Hantavirus fever" EXACT [Orphanet:340]
xref: ICD10:A98.5+ {source="ORDO:340/e", source="Orphanet:340"}
xref: ICD10:N08.0* {source="ORDO:340/e", source="Orphanet:340"}
xref: MedDRA:10023484 {source="ORDO:340/e", source="Orphanet:340"}
xref: MESH:C535630 {source="MONDO:equivalentTo", source="ORDO:340/e", source="Orphanet:340", source="MONDO:ontobio"}
xref: Orphanet:340 {source="MONDO:equivalentTo"}
xref: UMLS:C2930957 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="ORDO:340/e", source="Orphanet:340"}
xref: UMLS:CN204401 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005780 ! hantavirus infectious disease
is_a: MONDO:0018087 {source="MESH:C535630/inferred", source="Orphanet:340"} ! viral hemorrhagic fever
property_value: exactMatch http://identifiers.org/meddra/10023484
property_value: exactMatch http://identifiers.org/mesh/C535630
property_value: exactMatch http://identifiers.org/mesh/D006480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204401
property_value: exactMatch Orphanet:340

[Term]
id: MONDO:0018082
name: aorto-ventricular tunnel (disease)
def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." [Orphanet:3400]
subset: ordo_morphological_anomaly {source="Orphanet:3400"}
synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous]
xref: HP:0011627 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q20.8 {source="Orphanet:3400", source="ORDO:3400/ntbt"}
xref: Orphanet:3400 {source="MONDO:equivalentTo"}
xref: UMLS:CN225932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020293 {source="Orphanet:3400"} ! ascending aorta anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225932
property_value: exactMatch Orphanet:3400

[Term]
id: MONDO:0018083
name: transient tyrosinemia of the newborn
def: "Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." [Orphanet:3402]
subset: ordo_disease {source="Orphanet:3402"}
synonym: "transient neonatal tyrosinemia" EXACT [MONDO:cjm]
synonym: "transient tyrosinemia of the neonate" EXACT [Orphanet:3402]
synonym: "tyrosine-oxidase temporary deficiency" RELATED [GARD:0005388]
xref: GARD:0005388 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P74.5 {source="ORDO:3402/specific", source="Orphanet:3402", source="ORDO:3402/e"}
xref: Orphanet:3402 {source="MONDO:equivalentTo"}
xref: UMLS:CN204402 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017307 {source="Orphanet:3402"} ! disorder of tyrosine metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204402
property_value: exactMatch Orphanet:3402

[Term]
id: MONDO:0018084
name: Uhl anomaly
def: "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." [Orphanet:3403]
comment: Editor note: check xrefs
subset: ordo_morphological_anomaly {source="Orphanet:3403"}
synonym: "parchment right ventricle" RELATED [GARD:0005393]
synonym: "Uhl's anomaly" RELATED [GARD:0005393]
xref: GARD:0005393 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q24.8 {source="ORDO:3403/ntbt", source="Orphanet:3403"}
xref: MedDRA:10048951 {source="ORDO:3403/e", source="Orphanet:3403"}
xref: MESH:C536932 {source="ORDO:3403/e", source="MONDO:equivalentTo", source="Orphanet:3403"}
xref: Orphanet:3403 {source="MONDO:equivalentTo"}
is_a: MONDO:0016343 {source="Orphanet:3403"} ! unclassified cardiomyopathy
property_value: exactMatch http://identifiers.org/meddra/10048951
property_value: exactMatch http://identifiers.org/mesh/C536932
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265857
property_value: exactMatch Orphanet:3403

[Term]
id: MONDO:0018085
name: umbilical cord ulceration-intestinal atresia syndrome
def: "Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage." [Orphanet:3405]
subset: ordo_malformation_syndrome {source="Orphanet:3405"}
synonym: "umbilical cord ulcer with intestinal atresia" RELATED [GARD:0005403]
synonym: "umbilical cord ulceration and intestinal atresia" RELATED [GARD:0005403]
synonym: "umbilical ulceration and intestinal atresia" RELATED [GARD:0005403]
xref: GARD:0005403 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: MESH:C536938 {source="MONDO:equivalentTo", source="ORDO:3405/e", source="Orphanet:3405"}
xref: Orphanet:3405 {source="MONDO:equivalentTo"}
xref: UMLS:C2931371 {source="MONDO:equivalentTo", source="ORDO:3405/e", source="Orphanet:3405"}
is_a: MONDO:0015212 {source="Orphanet:3405"} ! syndromic intestinal malformation
property_value: exactMatch http://identifiers.org/mesh/C536938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931371
property_value: exactMatch Orphanet:3405

[Term]
id: MONDO:0018086
name: ulerythema ophryogenesis
def: "Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." [Orphanet:3406]
subset: gard_rare {source="GARD:0005395"}
subset: ordo_disease {source="Orphanet:3406"}
synonym: "keratosis pilaris affecting the follicles of the eyebrow hairs" RELATED [GARD:0005395]
synonym: "type of genodermatosis" RELATED [GARD:0005395]
xref: GARD:0005395 {source="MONDO:equivalentTo"}
xref: Orphanet:3406 {source="MONDO:equivalentTo"}
is_a: MONDO:0018855 {source="MONDOLEX:0018086", source="Orphanet:3406"} ! keratosis pilaris atrophicans
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263429
property_value: exactMatch Orphanet:3406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis xsd:anyURI {source="GARD:0005395"}

[Term]
id: MONDO:0018087
name: viral hemorrhagic fever
def: "Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever)." [Orphanet:341]
subset: gard_rare {source="GARD:0005494"}
subset: ordo_group_of_disorders {source="Orphanet:341"}
xref: COHD:4347554 {source="MONDO:equivalentTo"}
xref: GARD:0005494 {source="MONDO:equivalentTo"}
xref: MESH:D006482 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36170 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:341 {source="MONDO:equivalentTo"}
xref: SCTID:240523007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0019104 {source="MONDO:equivalentTo", source="NCIT:C36170", source="Orphanet:341"}
xref: UMLS:CN204409 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="MESH:D006482/inferred", source="MONDO:Redundant", source="NCIT:C36170", source="Orphanet:341", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D006482
property_value: exactMatch http://identifiers.org/snomedct/240523007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204409
property_value: exactMatch NCIT:C36170
property_value: exactMatch Orphanet:341
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever xsd:anyURI {source="GARD:0005494"}

[Term]
id: MONDO:0018088
name: familial Mediterranean fever
def: "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." [Orphanet:342]
subset: ordo_disease {source="Orphanet:342"}
synonym: "benign paroxysmal peritonitis" EXACT [DOID:2987, MTHICD9_2006:277.3, Orphanet:342]
synonym: "benign recurrent polyserositis" EXACT [Orphanet:342]
synonym: "familial paroxysmal polyserositis" EXACT [Orphanet:342]
synonym: "FMF" EXACT [Orphanet:342]
synonym: "periodic disease" EXACT [Orphanet:342]
xref: COHD:193445 {source="MONDO:equivalentTo"}
xref: DOID:2987 {source="MONDO:equivalentTo"}
xref: GARD:0006421 {source="MONDO:equivalentTo"}
xref: ICD10:E85.0 {source="ORDO:342/inclusion", source="ORDO:342/ntbt", source="DOID:2987", source="Orphanet:342"}
xref: ICD9:277.31 {source="MONDO:equivalentTo", source="DOID:2987", source="i2s"}
xref: MedDRA:10016207 {source="ORDO:342/e", source="Orphanet:342"}
xref: MESH:D010505 {source="MONDO:equivalentTo", source="DOID:2987", source="ORDO:342/e", source="Orphanet:342"}
xref: NCIT:C84707 {source="MONDO:equivalentTo", source="DOID:2987", source="MONDO:kboom-pr-0.95/0.78/1.55"}
xref: Orphanet:342 {source="MONDO:equivalentTo", source="DOID:2987"}
xref: SCTID:12579009 {source="MONDO:kboom-pr-0.88/0.74/0.21", source="MONDO:equivalentTo", source="DOID:2987"}
xref: UMLS:C0031069 {source="MONDO:equivalentTo", source="DOID:2987", source="NCIT:C84707", source="ORDO:342/e", source="Orphanet:342"}
is_a: MONDO:0017369 {source="Orphanet:342"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome
is_a: MONDO:0019724 {source="Orphanet:342"} ! secondary glomerular disease
relationship: excluded_subClassOf MONDO:0007179 {source="DOID:2987"} ! autoimmune disease
property_value: exactMatch DOID:2987
property_value: exactMatch http://identifiers.org/meddra/10016207
property_value: exactMatch http://identifiers.org/mesh/D010505
property_value: exactMatch http://identifiers.org/snomedct/12579009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031069
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0585274
property_value: exactMatch NCIT:C84707
property_value: exactMatch Orphanet:342

[Term]
id: MONDO:0018089
name: double outlet right ventricle
def: "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." [Orphanet:3426]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:3426"}
synonym: "Dextrotransposition of aorta" EXACT [DOID:6406]
synonym: "DORV" EXACT [Orphanet:3426]
synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD9CM_2006:745.11]
synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" EXACT EXCLUDE [DOID:6406]
synonym: "Taussig-Bing syndrome or defect" EXACT EXCLUDE [DOID:6406]
xref: COHD:313867 {source="MONDO:equivalentTo"}
xref: DOID:6406 {source="MONDO:equivalentTo"}
xref: GARD:0001908 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.1 {source="Orphanet:3426", source="ORDO:3426/e", source="ORDO:3426/specific"}
xref: MedDRA:10013611 {source="Orphanet:3426", source="ORDO:3426/e"}
xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="ORDO:3426/e"}
xref: NCIT:C98916 {source="DOID:6406", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.71/0.08"}
xref: Orphanet:3426 {source="MONDO:equivalentTo"}
xref: SCTID:204299009 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0013069 {source="GARD:0001908", source="NCIT:C98916", source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="ORDO:3426/e", source="OMIM:217095"}
is_a: MONDO:0002070 {source="DOID:6406", source="MONDOLEX:0018089"} ! ventricular septal defect (disease)
is_a: MONDO:0016581 {source="Orphanet:3426"} ! conotruncal heart malformations
is_a: MONDO:0017131 {source="Orphanet:3426"} ! genetic cardiac anomaly
property_value: closeMatch http://identifiers.org/snomedct/204298001
property_value: closeMatch http://identifiers.org/snomedct/204302009
property_value: closeMatch http://identifiers.org/snomedct/7484005
property_value: exactMatch DOID:6406
property_value: exactMatch http://identifiers.org/meddra/10013611
property_value: exactMatch http://identifiers.org/mesh/D004310
property_value: exactMatch http://identifiers.org/snomedct/204299009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013069
property_value: exactMatch NCIT:C98916
property_value: exactMatch Orphanet:3426

[Term]
id: MONDO:0018090
name: double outlet left ventricle (disease)
def: "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." [Orphanet:3427]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:3427"}
synonym: "DOLV" EXACT [Orphanet:3427]
synonym: "Double outlet left ventricle" EXACT [MONDO:ambiguous]
xref: GARD:0001907 {source="MONDO:equivalentTo"}
xref: HP:0011581 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q20.2 {source="ORDO:3427/e", source="Orphanet:3427"}
xref: ICD9:745.19 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:3427 {source="MONDO:equivalentTo"}
xref: SCTID:7368005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.38"}
is_a: MONDO:0016581 {source="Orphanet:3427"} ! conotruncal heart malformations
property_value: exactMatch http://identifiers.org/snomedct/7368005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265809
property_value: exactMatch Orphanet:3427

[Term]
id: MONDO:0018091
name: microcephaly-brachydactyly-kyphoscoliosis syndrome
def: "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." [Orphanet:3433]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:3433"}
synonym: "microcephaly brachydactyly kyphoscoliosis" RELATED [GARD:0005490]
synonym: "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" RELATED [GARD:0005490]
synonym: "Viljoen Kallis Voges syndrome" RELATED [GARD:0005490]
synonym: "Viljoen-Kallis-Voges syndrome" EXACT [Orphanet:3433]
xref: GARD:0005490 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:3433", source="ORDO:3433/attributed", source="ORDO:3433/ntbt"}
xref: MESH:C536349 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:3433 {source="GARD:0005490", source="MONDO:equivalentTo"}
xref: SCTID:719378009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C2931177 {source="Orphanet:3433", source="GARD:0005490", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3433", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3433"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019066 {source="Orphanet:3433", source="Orphanet:3433/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536349
property_value: exactMatch http://identifiers.org/snomedct/719378009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931177
property_value: exactMatch Orphanet:3433
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome xsd:anyURI {source="GARD:0005490"}

[Term]
id: MONDO:0018092
name: Vogt-Koyanagi-Harada disease
def: "Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." [Orphanet:3437]
subset: gard_rare {source="GARD:0007862"}
subset: ordo_disease {source="Orphanet:3437"}
synonym: "Harada's disease" EXACT [DOID:12297, ICD9CM_2006:363.22]
synonym: "Uveomenigitic syndrome" EXACT [Orphanet:3437]
synonym: "uveomeningoencephalitic syndrome" EXACT [DOID:12297]
synonym: "VKH disease" RELATED [GARD:0007862]
synonym: "VKH syndrome" RELATED [GARD:0007862]
synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM_2006:364.24]
synonym: "Vogt-Koyanagi-Harada syndrome" RELATED [GARD:0007862]
xref: COHD:4108968 {source="MONDO:equivalentTo"}
xref: DOID:12297 {source="MONDO:equivalentTo"}
xref: GARD:0007862 {source="MONDO:equivalentTo"}
xref: ICD10:H20.8 {source="ORDO:3437/ntbt", source="Orphanet:3437"}
xref: ICD10:H20.82 {source="DOID:12297"}
xref: ICD10:H30.8 {source="ORDO:3437/ntbt", source="Orphanet:3437"}
xref: ICD10:H30.81 {source="DOID:12297"}
xref: ICD9:363.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:12297"}
xref: ICD9:364.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:12297"}
xref: MESH:D014607 {source="MONDO:equivalentTo", source="DOID:12297", source="MONDO:ontobio"}
xref: NCIT:C85218 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/25.81", source="DOID:12297"}
xref: Orphanet:3437 {source="MONDO:equivalentTo"}
xref: SCTID:193497004 {source="MONDO:equivalentTo", source="DOID:12297", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0042170 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C85218", source="MONDO:equivalentTo", source="Orphanet:3437", source="DOID:12297"}
is_a: MONDO:0002254 {source="MONDOLEX:0018092", source="NCIT:C85218"} ! syndromic disease
is_a: MONDO:0002977 {source="MESH:D014607", source="OWLReasoner:2017"} ! autoimmune disease of the nervous system
is_a: MONDO:0015916 {source="Orphanet:3437"} ! rare neuroinflammatory or neuroimmunological disease
is_a: MONDO:0017255 {source="Orphanet:3437"} ! panuveitis (disease)
is_a: MONDO:0031012 ! autoimmune uveitis
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:3437"} ! obsolete eyebrow/eyelashes pigmentation anomaly
property_value: closeMatch http://identifiers.org/snomedct/193453003
property_value: closeMatch http://identifiers.org/snomedct/44923005
property_value: closeMatch http://identifiers.org/snomedct/47230004
property_value: exactMatch DOID:12297
property_value: exactMatch http://identifiers.org/mesh/D014607
property_value: exactMatch http://identifiers.org/snomedct/193497004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042170
property_value: exactMatch NCIT:C85218
property_value: exactMatch Orphanet:3437
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease xsd:anyURI {source="GARD:0007862"}

[Term]
id: MONDO:0018093
name: arbovirus fever
def: "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." [Orphanet:344]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:344"}
synonym: "Arbovirosis" RELATED [GARD:0000432]
synonym: "arbovirus fever" EXACT [GARD:0000432]
xref: GARD:0000432 {source="MONDO:equivalentTo"}
xref: Orphanet:344 {source="MONDO:equivalentTo"}
xref: UMLS:CN227261 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:344"} ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: closeMatch Orphanet:3413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227261
property_value: exactMatch Orphanet:344
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/432/arbovirosis xsd:anyURI {source="GARD:0000432"}

[Term]
id: MONDO:0018094
name: Waardenburg syndrome
def: "Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." [Orphanet:3440]
subset: clingen
subset: ordo_disease {source="Orphanet:3440"}
synonym: "Mende syndrome" RELATED [GARD:0005525]
synonym: "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" RELATED [GARD:0005525]
synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [CSP2005:4006-0098, DOID:9258]
synonym: "Waardenburg Shah syndrome" EXACT [DOID:9258]
synonym: "Waardenburg syndrome" EXACT [DOID:9258, MTHICD9_2006:270.2]
synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258]
xref: DOID:9258 {source="MONDO:equivalentTo"}
xref: GARD:0005525 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="ORDO:3440/index", source="ORDO:3440/ntbt", source="Orphanet:3440"}
xref: MedDRA:10069203 {source="Orphanet:3440", source="ORDO:3440/e"}
xref: NCIT:C85222 {source="MONDO:equivalentTo", source="DOID:9258", source="MONDO:kboom-pr-0.88/0.74/0.20"}
xref: OMIMPS:193500 {source="MONDO:equivalentTo", source="DOID:9258"}
xref: Orphanet:3440 {source="MONDO:equivalentTo", source="DOID:9258"}
xref: SCTID:715952000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.66/0.57"}
is_a: MONDO:0000426 {source="DOID:9258", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015218 {source="Orphanet:3440"} ! syndromic developmental defect of the eye
is_a: MONDO:0015331 {source="Orphanet:3440"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019290 {source="Orphanet:3440"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0019589 {source="Orphanet:3440"} ! syndromic genetic deafness
is_a: MONDO:0020253 {source="Orphanet:3440"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3440"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:3440"} ! obsolete eyebrow/eyelashes pigmentation anomaly
relationship: excluded_subClassOf MONDO:0020276 {source="Orphanet:3440"} ! pigmentation disorder with eye involvement, excluding albinism
property_value: closeMatch http://identifiers.org/snomedct/47434006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079661
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3266898
property_value: exactMatch DOID:9258
property_value: exactMatch http://identifiers.org/meddra/10069203
property_value: exactMatch http://identifiers.org/mesh/D014849
property_value: exactMatch http://identifiers.org/snomedct/715952000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043008
property_value: exactMatch NCIT:C85222
property_value: exactMatch Orphanet:3440

[Term]
id: MONDO:0018095
name: Weaver-Williams syndrome
def: "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." [Orphanet:3448]
subset: ordo_malformation_syndrome {source="Orphanet:3448"}
xref: ICD10:Q87.8 {source="ORDO:3448/attributed", source="ORDO:3448/ntbt", source="Orphanet:3448"}
xref: Orphanet:3448 {source="MONDO:equivalentTo"}
xref: UMLS:CN204431 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3448", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:3448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015335 {source="Orphanet:3448"} ! orofacial clefting syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204431
property_value: exactMatch Orphanet:3448

[Term]
id: MONDO:0018096
name: Weill-Marchesani syndrome
def: "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." [Orphanet:3449]
subset: ordo_malformation_syndrome {source="Orphanet:3449"}
synonym: "congenital mesodermal dystrophy" EXACT [DOID:0050475]
synonym: "GEMSS syndrome" EXACT EXCLUDE [DOID:0050475]
synonym: "Marchesani-Weill syndrome" EXACT [DOID:0050475]
synonym: "mesodermal dysmorphodystrophy congenital" RELATED [GARD:0004936]
synonym: "mesodermal Dysmorphodystrophy, congenital" EXACT [DOID:0050475]
synonym: "spherophakia brachymorphia syndrome" EXACT [DOID:0050475]
synonym: "spherophakia-brachymorphia syndrome" EXACT [Orphanet:3449]
synonym: "WM syndrome" RELATED [GARD:0004936]
synonym: "WMS" RELATED [GARD:0004936]
xref: DOID:0050475 {source="MONDO:equivalentTo"}
xref: GARD:0004936 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="ORDO:3449/index", source="ORDO:3449/ntbt", source="Orphanet:3449"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10064963 {source="ORDO:3449/e", source="Orphanet:3449"}
xref: MESH:D056846 {source="DOID:0050475", source="MONDO:equivalentTo", source="ORDO:3449/e", source="Orphanet:3449"}
xref: NCIT:C85226 {source="DOID:0050475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:277600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:3449 {source="DOID:0050475", source="MONDO:equivalentTo"}
xref: SCTID:2884008 {source="DOID:0050475", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.47"}
xref: UMLS:C0265313 {source="DOID:0050475", source="MONDO:equivalentTo", source="ORDO:3449/e", source="Orphanet:3449", source="NCIT:C85226"}
is_a: MONDO:0000429 {source="DOID:0050475"} ! autosomal genetic disease
is_a: MONDO:0015218 {source="Orphanet:3449"} ! syndromic developmental defect of the eye
is_a: MONDO:0019066 {source="Orphanet:3449"} ! syndrome with brachydactyly
is_a: MONDO:0019695 {source="Orphanet:3449"} ! acromelic dysplasia
is_a: MONDO:0020222 {source="Orphanet:3449"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020235 {source="Orphanet:3449"} ! lens size anomaly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3449"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: closeMatch http://identifiers.org/snomedct/205801004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869114
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869115
property_value: exactMatch DOID:0050475
property_value: exactMatch http://identifiers.org/meddra/10064963
property_value: exactMatch http://identifiers.org/mesh/D056846
property_value: exactMatch http://identifiers.org/snomedct/2884008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265313
property_value: exactMatch NCIT:C85226
property_value: exactMatch Orphanet:3449

[Term]
id: MONDO:0018097
name: West syndrome
def: "West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." [Orphanet:3451]
comment: Editor note: check placement of OMIM IDs and EIEE subtypes
subset: ordo_clinical_syndrome {source="Orphanet:3451"}
synonym: "infantile spasms" EXACT [Orphanet:3451]
synonym: "Infantile spasms syndrome" RELATED [DOID:0050562]
synonym: "intellectual disability-hypsarrhythmia syndrome" EXACT [Orphanet:3451]
synonym: "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" RELATED [GARD:0007887]
synonym: "West's syndrome" RELATED [GARD:0007887]
synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887]
synonym: "X-linked infantile spasms" RELATED [GARD:0007887]
xref: COHD:376105 {source="MONDO:equivalentTo"}
xref: DOID:0050562 {source="MONDO:equivalentTo"}
xref: GARD:0007887 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G40.4 {source="ORDO:3451/inclusion", source="ORDO:3451/ntbt", source="Orphanet:3451"}
xref: ICD9:345.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10021750 {source="Orphanet:3451", source="ORDO:3451/e"}
xref: NCIT:C84788 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:3451 {source="MONDO:equivalentTo"}
xref: SCTID:28055006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037769 {source="NCIT:C84788", source="MONDO:equivalentTo", source="Orphanet:3451", source="ORDO:3451/e"}
is_a: MONDO:0000413 {source="DOID:0050562"} ! infancy electroclinical syndrome
is_a: MONDO:0000508 {source="Orphanet:3451"} ! syndromic intellectual disability
is_a: MONDO:0100022 {source="Orphanet:3451", comment="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:3451"} ! ARX-related epileptic encephalopathy
property_value: exactMatch DOID:0050562
property_value: exactMatch http://identifiers.org/meddra/10021750
property_value: exactMatch http://identifiers.org/snomedct/28055006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037769
property_value: exactMatch NCIT:C84788
property_value: exactMatch Orphanet:3451

[Term]
id: MONDO:0018098
name: autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
def: "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." [Orphanet:34517]
comment: Terminology notes: See comments for LGMD1D
subset: ordo_disease {source="Orphanet:34517"}
synonym: "LGMD1E" EXACT [Orphanet:34517]
synonym: "limb-girdle muscular dystrophy type 1E" RELATED [GARD:0012529]
xref: GARD:0012529 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:34517/attributed", source="ORDO:34517/ntbt"}
xref: Orphanet:34517 {source="MONDO:equivalentTo"}
xref: UMLS:C3148763 {source="MEDGEN:kboom-pr98-c99", source="OMIM:603511", source="MONDO:equivalentTo", source="Orphanet:34517"}
is_a: MONDO:0015151 {source="MONDOLEX:0018098", source="Orphanet:34517"} ! autosomal dominant limb-girdle muscular dystrophy
is_a: MONDO:0016187 {source="Orphanet:34517"} ! qualitative or quantitative defects of desmin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3148763
property_value: exactMatch Orphanet:34517

[Term]
id: MONDO:0018099
name: obsolete Whipple disease
is_obsolete: true
replaced_by: MONDO:0005116

[Term]
id: MONDO:0018100
name: familial primary hypomagnesemia
def: "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." [NCIT:C123263]
subset: ordo_group_of_disorders {source="Orphanet:34526"}
synonym: "familial primary hypomagnesemia" EXACT [NCIT:C123263]
synonym: "HOMG" EXACT [DOID:0060879]
synonym: "hypomagnesemia" BROAD [OMIMPS:602014]
synonym: "primary familial hypomagnesemia" EXACT [DOID:0060879]
xref: DOID:0060879 {source="MONDO:equivalentTo"}
xref: GARD:0002906 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E83.4 {source="Orphanet:34526", source="DOID:0060879", source="ORDO:34526/attributed", source="ORDO:34526/ntbt"}
xref: NCIT:C123263 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: OMIMPS:602014 {source="MONDO:equivalentTo", source="DOID:0060879"}
xref: Orphanet:34526 {source="MONDO:equivalentTo", source="DOID:0060879"}
xref: SCTID:80710001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0004689 {source="DOID:0060879"} ! inborn metal metabolism disorder
is_a: MONDO:0015962 {source="Orphanet:34526"} ! inherited renal tubular disease
is_a: MONDO:0017765 {source="Orphanet:34526"} ! disorder of magnesium transport
is_a: MONDO:0019744 {source="Orphanet:34526"} ! rare renal tubular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268448
property_value: exactMatch DOID:0060879
property_value: exactMatch http://identifiers.org/snomedct/80710001
property_value: exactMatch NCIT:C123263
property_value: exactMatch Orphanet:34526

[Term]
id: MONDO:0018101
name: familial primary hypomagnesemia with normocalciuria and normocalcemia
def: "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." [Orphanet:34527]
subset: ordo_disease {source="Orphanet:34527"}
xref: ICD10:E83.4 {source="Orphanet:34527", source="ORDO:34527/attributed", source="ORDO:34527/ntbt"}
xref: Orphanet:34527 {source="MONDO:equivalentTo"}
xref: SCTID:725031005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510731 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204443 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017626 {source="Orphanet:34527"} ! familial primary hypomagnesemia with normocalcuria
property_value: exactMatch http://identifiers.org/snomedct/725031005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204443
property_value: exactMatch Orphanet:34527

[Term]
id: MONDO:0018102
name: corneal dystrophy (disease)
def: "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." [Orphanet:34533]
comment: Editor note: NCIT distinguishes between acquired and genetic
subset: ordo_group_of_disorders {source="Orphanet:34533"}
synonym: "corneal dystrophy" EXACT [MONDO:ambiguous]
xref: DOID:2566 {source="MONDO:equivalentTo"}
xref: HP:0001131 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H18.5 {source="Orphanet:34533", source="DOID:2566", source="ORDO:34533/specific", source="ORDO:34533/e"}
xref: ICD10:H18.50 {source="DOID:2566"}
xref: ICD9:371.5 {source="DOID:2566"}
xref: ICD9:371.50 {source="DOID:2566"}
xref: MedDRA:10011005 {source="Orphanet:34533", source="ORDO:34533/e"}
xref: MESH:D003317 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="ORDO:34533/e"}
xref: NCIT:C34513 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2566"}
xref: Orphanet:34533 {source="MONDO:equivalentTo"}
xref: SCTID:5587004 {source="MONDO:equivalentTo", source="DOID:2566", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0010036 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="ORDO:34533/e", source="NCIT:C34513"}
is_a: MONDO:0000942 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/193831005
property_value: closeMatch http://identifiers.org/snomedct/193832003
property_value: closeMatch http://identifiers.org/snomedct/193842001
property_value: closeMatch http://identifiers.org/snomedct/77797009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010035
property_value: closeMatch NCIT:C34512
property_value: exactMatch DOID:2566
property_value: exactMatch http://identifiers.org/meddra/10011005
property_value: exactMatch http://identifiers.org/mesh/D003317
property_value: exactMatch http://identifiers.org/snomedct/5587004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010036
property_value: exactMatch NCIT:C34513
property_value: exactMatch Orphanet:34533

[Term]
id: MONDO:0018103
name: Quinquaud's folliculitis decalvans
def: "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." [Orphanet:346]
subset: gard_rare {source="GARD:0000373"}
subset: ordo_disease {source="Orphanet:346"}
synonym: "folliculitis decalvans" RELATED [GARD:0000373]
synonym: "Quinquaud's decalvans folliculitis" RELATED [GARD:0000373]
synonym: "Quinquaud's disease" RELATED [GARD:0000373]
synonym: "Quinquaud’s disease" RELATED [GARD:0000373]
xref: GARD:0000373 {source="MONDO:equivalentTo"}
xref: ICD10:L66.2 {source="Orphanet:346", source="ORDO:346/e"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:346 {source="MONDO:equivalentTo"}
xref: SCTID:53593008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.60"}
xref: UMLS:CN227263 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:346"} ! alopecia
property_value: exactMatch http://identifiers.org/snomedct/53593008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227263
property_value: exactMatch Orphanet:346
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis xsd:anyURI {source="GARD:0000373"}

[Term]
id: MONDO:0018104
name: Torg-Winchester syndrome
subset: ordo_clinical_subtype {source="Orphanet:3460"}
synonym: "Winchester syndrome" EXACT [Orphanet:3460]
xref: ICD10:M89.5 {source="Orphanet:3460", source="ORDO:3460/attributed", source="ORDO:3460/ntbt"}
xref: Orphanet:3460 {source="MONDO:equivalentTo"}
is_a: MONDO:0018298 {source="Orphanet:3460"} ! multicentric osteolysis-nodulosis-arthropathy spectrum
property_value: exactMatch http://identifiers.org/mesh/C536051
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850155
property_value: exactMatch Orphanet:3460

[Term]
id: MONDO:0018105
name: Wolfram syndrome
def: "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." [Orphanet:3463]
subset: ordo_disease {source="Orphanet:3463"}
synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" EXACT [NCIT:C35133]
synonym: "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" EXACT [Orphanet:3463]
synonym: "diabetes mellitus and insipidus with optic atrophy and deafness" EXACT [DOID:10632]
synonym: "DIDMOAD" EXACT [DOID:10632]
synonym: "DIDMOAD syndrome" EXACT [Orphanet:3463]
synonym: "WFS" EXACT [DOID:10632]
xref: DOID:10632 {source="MONDO:equivalentTo"}
xref: GARD:0007898 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E13.8 {source="Orphanet:3463", source="ORDO:3463/attributed", source="ORDO:3463/ntbt"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="ORDO:3463/e"}
xref: NCIT:C35133 {source="DOID:10632", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:3463 {source="DOID:10632", source="MONDO:equivalentTo"}
xref: SCTID:70694009 {source="DOID:10632", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.74/0.37"}
xref: UMLS:C0043207 {source="DOID:10632", source="Orphanet:3463", source="NCIT:C35133", source="MONDO:equivalentTo", source="ORDO:3463/e"}
xref: UMLS:CN184630 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018609 {source="Orphanet:3463"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019589 {source="Orphanet:3463"} ! syndromic genetic deafness
relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus
property_value: exactMatch DOID:10632
property_value: exactMatch http://identifiers.org/mesh/D014929
property_value: exactMatch http://identifiers.org/snomedct/70694009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN184630
property_value: exactMatch NCIT:C35133
property_value: exactMatch Orphanet:3463

[Term]
id: MONDO:0018106
name: hereditary xanthinuria
def: "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." [Orphanet:3467]
subset: ordo_disease {source="Orphanet:3467"}
synonym: "classic xanthinuria" EXACT [Orphanet:3467]
synonym: "hereditary xanthinuria" EXACT [MONDO:patterns/hereditary]
synonym: "xanthic urolithiasis" EXACT [Orphanet:3467]
synonym: "xanthine dehydrogenase deficiency" EXACT [DOID:0060236]
synonym: "xanthine oxidase deficiency" EXACT EXCLUDE [DOID:0060236]
synonym: "xanthine stone disease" EXACT [Orphanet:3467]
synonym: "xanthinuria" RELATED [DOID:0060236]
xref: DOID:0060236 {source="MONDO:equivalentTo"}
xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"}
xref: ICD10:E79.8 {source="Orphanet:3467", source="ORDO:3467/ntbt", source="ORDO:3467/inclusion"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:3467 {source="MONDO:equivalentTo", source="DOID:0060236", source="MONDO:superClassOf"}
xref: SCTID:54627004 {source="MONDO:kboom-pr-0.93/0.85/0.06", source="MONDO:equivalentTo"}
is_a: MONDO:0000721 {source="MONDO:Redundant", source="MONDO:cjm"} ! xanthinuria
is_a: MONDO:0019236 {source="Orphanet:3467"} ! inborn disorder of purine metabolism
is_a: MONDO:0019743 {source="Orphanet:3467"} ! nephropathy secondary to a storage or other metabolic disease
intersection_of: MONDO:0000721 ! xanthinuria
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/124147007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268118
property_value: exactMatch DOID:0060236
property_value: exactMatch http://identifiers.org/snomedct/54627004
property_value: exactMatch Orphanet:3467

[Term]
id: MONDO:0018107
name: idiopathic recurrent and disabling cutaneous herpes
subset: ordo_disease {source="Orphanet:35061"}
xref: ICD10:B00.1 {source="Orphanet:35061", source="ORDO:35061/ntbt"}
xref: Orphanet:35061 {source="MONDO:equivalentTo"}
xref: UMLS:CN204468 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:35061"} ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204468
property_value: exactMatch Orphanet:35061

[Term]
id: MONDO:0018108
name: idiopathic disseminated cytomegalovirus infection
subset: ordo_disease {source="Orphanet:35062"}
synonym: "idiopathic disseminated CMV infection" EXACT [Orphanet:35062]
xref: ICD10:B25.8 {source="Orphanet:35062", source="ORDO:35062/ntbt"}
xref: Orphanet:35062 {source="MONDO:equivalentTo"}
xref: UMLS:CN204469 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005132 {source="MONDO:cjm"} ! cytomegalovirus infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204469
property_value: exactMatch Orphanet:35062

[Term]
id: MONDO:0018109
name: fulminant viral hepatitis
def: "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." [Orphanet:35063]
subset: ordo_disease {source="Orphanet:35063"}
xref: ICD10:K72 {source="ORDO:35063/ntbt", source="Orphanet:35063"}
xref: Orphanet:35063 {source="MONDO:equivalentTo"}
is_a: MONDO:0002251 ! hepatitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: exactMatch Orphanet:35063

[Term]
id: MONDO:0018110
name: lethal idiopathic viral infection
subset: ordo_disease {source="Orphanet:35064"}
xref: Orphanet:35064 {source="MONDO:equivalentTo"}
xref: UMLS:CN776879 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:35064"} ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776879
property_value: exactMatch Orphanet:35064

[Term]
id: MONDO:0018111
name: idiopathic severe pneumococcemia
subset: ordo_disease {source="Orphanet:35065"}
xref: ICD10:A40.3 {source="ORDO:35065/ntbt", source="Orphanet:35065"}
xref: Orphanet:35065 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="Orphanet:35065"} ! bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch Orphanet:35065

[Term]
id: MONDO:0018112
name: isolated scaphocephaly
def: "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." [Orphanet:35093]
subset: ordo_morphological_anomaly {source="Orphanet:35093"}
synonym: "isolated dolichocephaly" EXACT [Orphanet:35093]
synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093]
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="Orphanet:35093", source="ORDO:35093/attributed", source="ORDO:35093/ntbt"}
xref: Orphanet:35093 {source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:35093"} ! isolated craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:35093"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265534
property_value: exactMatch Orphanet:35093

[Term]
id: MONDO:0018113
name: isolated plagiocephaly
def: "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." [Orphanet:35098]
subset: ordo_morphological_anomaly {source="Orphanet:35098"}
synonym: "non-syndromic unicoronal synostosis" EXACT [Orphanet:35098]
synonym: "synostotic plagiocephaly" EXACT [Orphanet:35098]
xref: ICD10:Q67.3 {source="ORDO:35098/e", source="Orphanet:35098", source="ORDO:35098/specific"}
xref: Orphanet:35098 {source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:35098"} ! isolated craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:35098"} ! craniostenosis associated with a strabismus
property_value: exactMatch Orphanet:35098

[Term]
id: MONDO:0018114
name: isolated brachycephaly
def: "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099]
subset: ordo_morphological_anomaly {source="Orphanet:35099"}
synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099]
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="ORDO:35099/attributed", source="ORDO:35099/ntbt", source="Orphanet:35099"}
xref: Orphanet:35099 {source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:35099"} ! isolated craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:35099"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221356
property_value: exactMatch Orphanet:35099

[Term]
id: MONDO:0018115
name: epidermal nevus syndrome
def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [MESH:D054000]
subset: ordo_disease {source="Orphanet:35125"}
synonym: "Epidermal hamartoma syndrome" EXACT [Orphanet:35125]
xref: ICD10:Q85.8 {source="ORDO:35125/attributed", source="ORDO:35125/ntbt", source="Orphanet:35125"}
xref: MedDRA:10014985 {source="ORDO:35125/e", source="Orphanet:35125"}
xref: Orphanet:35125 {source="MONDO:equivalentTo"}
xref: SCTID:239112008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.09"}
is_a: MONDO:0005073 {source="Orphanet:35125"} ! melanocytic nevus
is_a: MONDO:0020269 {source="Orphanet:35125"} ! syndromic ichthyosis associated with ocular features
is_a: MONDO:0021454 ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/meddra/10014985
property_value: exactMatch http://identifiers.org/mesh/C536114
property_value: exactMatch http://identifiers.org/mesh/D054000
property_value: exactMatch http://identifiers.org/snomedct/239112008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334082
property_value: exactMatch Orphanet:35125

[Term]
id: MONDO:0018116
name: galactosemia
def: "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." [Orphanet:352]
subset: ordo_group_of_disorders {source="Orphanet:352"}
synonym: "galactosaemia" EXACT [DOID:9870]
synonym: "galactose intolerance" EXACT [DOID:9870]
synonym: "galactosemia" EXACT [MONDO:0004908]
xref: COHD:439788 {source="MONDO:equivalentTo"}
xref: DOID:9870 {source="MONDO:equivalentTo"}
xref: GARD:0002424 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E74.2 {source="ORDO:352/inclusion", source="ORDO:352/ntbt", source="Orphanet:352"}
xref: ICD10:E74.21 {source="DOID:9870"}
xref: ICD9:271.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9870"}
xref: MedDRA:10017604 {source="ORDO:352/e", source="Orphanet:352"}
xref: MESH:D005693 {source="MONDO:equivalentTo", source="ORDO:352/e", source="DOID:9870", source="Orphanet:352"}
xref: NCIT:C84723 {source="MONDO:equivalentTo", source="DOID:9870", source="MONDO:kboom-pr-0.91/0.70/1.22"}
xref: OMIMPS:230400 {source="MONDO:equivalentTo"}
xref: Orphanet:352 {source="MONDO:equivalentTo"}
xref: SCTID:190745006 {source="MONDO:equivalentTo", source="DOID:9870", source="MONDO:kboom-pr-0.86/0.70/0.09"}
xref: UMLS:C0016952 {source="NCIT:C84723", source="MONDO:equivalentTo", source="ORDO:352/e", source="DOID:9870", source="Orphanet:352"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017690 {source="Orphanet:352", source="linkedlifedata"} ! disorder of galactose metabolism
is_a: MONDO:0019743 {source="Orphanet:352"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020228 {source="Orphanet:352"} ! cataract associated with a metabolic disease
is_a: MONDO:0020280 {source="Orphanet:352"} ! metabolic disease with cataract
property_value: closeMatch http://identifiers.org/snomedct/154738008
property_value: closeMatch http://identifiers.org/snomedct/190747003
property_value: closeMatch http://identifiers.org/snomedct/267498002
property_value: closeMatch http://identifiers.org/snomedct/38177000
property_value: exactMatch DOID:9870
property_value: exactMatch http://identifiers.org/meddra/10017604
property_value: exactMatch http://identifiers.org/mesh/D005693
property_value: exactMatch http://identifiers.org/snomedct/190745006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016952
property_value: exactMatch NCIT:C84723
property_value: exactMatch Orphanet:352

[Term]
id: MONDO:0018117
name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis
subset: ordo_group_of_disorders {source="Orphanet:352301"}
xref: Orphanet:352301 {source="MONDO:equivalentTo"}
xref: UMLS:CN227264 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 {source="Orphanet:352301"} ! inherited lipid metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227264
property_value: exactMatch Orphanet:352301

[Term]
id: MONDO:0018118
name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
subset: ordo_group_of_disorders {source="Orphanet:352306"}
xref: Orphanet:352306 {source="MONDO:equivalentTo"}
xref: UMLS:CN227265 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018117 {source="Orphanet:352306"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227265
property_value: exactMatch Orphanet:352306

[Term]
id: MONDO:0018119
name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
subset: ordo_group_of_disorders {source="Orphanet:352309"}
xref: Orphanet:352309 {source="MONDO:equivalentTo"}
xref: UMLS:CN227266 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018117 {source="Orphanet:352309"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227266
property_value: exactMatch Orphanet:352309

[Term]
id: MONDO:0018120
name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
subset: ordo_group_of_disorders {source="Orphanet:352312"}
xref: Orphanet:352312 {source="MONDO:equivalentTo"}
xref: UMLS:CN227267 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018117 {source="Orphanet:352312"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227267
property_value: exactMatch Orphanet:352312

[Term]
id: MONDO:0018121
name: mitochondrial DNA maintenance syndrome
def: "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:352456"}
synonym: "inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn mitochondrial genome maintenance disorder" EXACT []
synonym: "mtDNA maintenance syndrome" EXACT [Orphanet:352456]
synonym: "rare inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of mitochondrial genome maintenance" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:352456 {source="MONDO:equivalentTo"}
xref: UMLS:CN204491 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016578 {source="Orphanet:352456"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204491
property_value: exactMatch Orphanet:352456

[Term]
id: MONDO:0018122
name: digital anomalies-intellectual disability-short stature syndrome
subset: ordo_disease {source="Orphanet:352487"}
xref: ICD10:Q87.2 {source="Orphanet:352487", source="ORDO:352487/attributed", source="ORDO:352487/ntbt"}
xref: Orphanet:352487 {source="MONDO:equivalentTo"}
xref: UMLS:CN204494 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017434 {source="Orphanet:352487"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0020119 {source="Orphanet:352487"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204494
property_value: exactMatch Orphanet:352487

[Term]
id: MONDO:0018123
name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
def: "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." [Orphanet:352530]
subset: ordo_disease {source="Orphanet:352530"}
synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530]
xref: ICD10:Q04.8 {source="Orphanet:352530", source="ORDO:352530/attributed", source="ORDO:352530/ntbt"}
xref: Orphanet:352530 {source="MONDO:equivalentTo"}
xref: UMLS:CN204496 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:352530"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016565 {source="Orphanet:352530"} ! syndromic genetic obesity
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204496
property_value: exactMatch Orphanet:352530

[Term]
id: MONDO:0018124
name: Oncogenic osteomalacia
def: "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones ( osteomalacia ). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood ( hypophosphatemia ). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer . The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." [https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia]
subset: gard_rare {source="GARD:0009652"}
subset: ordo_disease {source="Orphanet:352540"}
synonym: "Oncogenic hypophosphatemic osteomalacia" EXACT [Orphanet:352540]
synonym: "OO" RELATED [GARD:0009652]
synonym: "OOM" RELATED [GARD:0009652]
synonym: "TIO" EXACT [Orphanet:352540]
synonym: "tumor-induced osteomalacia" EXACT [Orphanet:352540]
xref: GARD:0009652 {source="MONDO:equivalentTo"}
xref: ICD10:M83.8 {source="Orphanet:352540", source="ORDO:352540/ntbt"}
xref: MESH:C537751 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C67235 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:352540 {source="MONDO:equivalentTo"}
xref: SCTID:392559009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1274103 {source="Orphanet:352540", source="MONDO:equivalentTo", source="NCIT:C67235"}
is_a: MONDO:0001068 {source="NCIT:C67235", source="linkedlifedata"} ! osteomalacia (disease)
is_a: MONDO:0019061 {source="Orphanet:352540"} ! rare parathyroid disease and phosphocalcic metabolism anomaly
is_a: MONDO:0021073 {source="NCIT:C67235"} ! paraneoplastic syndrome
property_value: exactMatch http://identifiers.org/mesh/C537751
property_value: exactMatch http://identifiers.org/snomedct/392559009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274103
property_value: exactMatch NCIT:C67235
property_value: exactMatch Orphanet:352540
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia xsd:anyURI {source="GARD:0009652"}

[Term]
id: MONDO:0018125
name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation
def: "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." [Orphanet:352587]
subset: ordo_disease {source="Orphanet:352587"}
synonym: "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" EXACT [Orphanet:352587]
xref: ICD10:Q04.8 {source="ORDO:352587/attributed", source="ORDO:352587/ntbt", source="Orphanet:352587"}
xref: Orphanet:352587 {source="MONDO:equivalentTo"}
xref: UMLS:CN204502 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015653 {source="Orphanet:352587"} ! monogenic epilepsy
is_a: MONDO:0015655 {source="Orphanet:352587"} ! cerebral malformation with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204502
property_value: exactMatch Orphanet:352587

[Term]
id: MONDO:0018126
name: progressive myoclonic epilepsy with dystonia
def: "Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." [Orphanet:352596]
subset: ordo_disease {source="Orphanet:352596"}
synonym: "PMED" EXACT [Orphanet:352596]
synonym: "progressive myoclonus epilepsy with dystonia" EXACT [Orphanet:352596]
xref: ICD10:G40.3 {source="Orphanet:352596", source="ORDO:352596/attributed", source="ORDO:352596/ntbt"}
xref: Orphanet:352596 {source="MONDO:equivalentTo"}
xref: SCTID:763349002 {source="MONDO:equivalentTo"}
is_a: MONDO:0020071 {source="Orphanet:352596"} ! infantile epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/763349002
property_value: exactMatch Orphanet:352596

[Term]
id: MONDO:0018127
name: 16q24.1 microdeletion syndrome
def: "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." [Orphanet:352629]
subset: ordo_disease {source="Orphanet:352629"}
synonym: "Del(16)(q24.1)" EXACT [Orphanet:352629]
synonym: "monosomy 16q24.1" EXACT [Orphanet:352629]
xref: ICD10:Q93.5 {source="ORDO:352629/attributed", source="ORDO:352629/ntbt", source="Orphanet:352629"}
xref: Orphanet:352629 {source="MONDO:equivalentTo"}
xref: UMLS:CN204505 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016914 {source="Orphanet:352629"} ! partial deletion of the long arm of chromosome 16
is_a: MONDO:0017017 {source="Orphanet:352629"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204505
property_value: exactMatch Orphanet:352629

[Term]
id: MONDO:0018128
name: phalangeal microgeodic syndrome
def: "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." [Orphanet:352636]
subset: ordo_disease {source="Orphanet:352636"}
synonym: "phalangeal osteolysis" EXACT [Orphanet:352636]
xref: ICD10:M89.5 {source="ORDO:352636/attributed", source="ORDO:352636/ntbt", source="Orphanet:352636"}
xref: Orphanet:352636 {source="MONDO:equivalentTo"}
xref: UMLS:CN204506 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019707 {source="Orphanet:352636"} ! primary osteolysis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204506
property_value: exactMatch Orphanet:352636

[Term]
id: MONDO:0018129
name: autosomal recessive cerebellar ataxia with late-onset spasticity
def: "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." [Orphanet:352641]
subset: ordo_disease {source="Orphanet:352641"}
synonym: "autosomal recessive cerebellar ataxia due to GBA2 deficiency" EXACT [Orphanet:352641]
xref: ICD10:G11.8 {source="Orphanet:352641", source="ORDO:352641/attributed", source="ORDO:352641/ntbt"}
xref: Orphanet:352641 {source="MONDO:equivalentTo"}
xref: SCTID:763348005 {source="MONDO:equivalentTo"}
xref: UMLS:CN204507 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0019255 {source="Orphanet:352641"} ! sphingolipidosis
is_a: MONDO:0020044 {source="Orphanet:352641"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch http://identifiers.org/snomedct/763348005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204507
property_value: exactMatch Orphanet:352641

[Term]
id: MONDO:0018130
name: brain dopamine-serotonin vesicular transport disease
def: "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." [Orphanet:352649]
subset: ordo_disease {source="Orphanet:352649"}
xref: ICD10:G25.8 {source="Orphanet:352649", source="ORDO:352649/attributed", source="ORDO:352649/ntbt"}
xref: Orphanet:352649 {source="MONDO:equivalentTo"}
xref: SCTID:717942003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4303546 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018329 {source="Orphanet:352649"} ! persistent combined dystonia
is_a: MONDO:0019219 {source="Orphanet:352649"} ! inborn disorder of neurotransmitter metabolism and transport
property_value: exactMatch http://identifiers.org/snomedct/717942003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303546
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204508
property_value: exactMatch Orphanet:352649

[Term]
id: MONDO:0018131
name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:352665"}
synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665]
synonym: "Del(9)(q21)" EXACT [Orphanet:352665]
xref: ICD10:Q93.5 {source="ORDO:352665/attributed", source="ORDO:352665/ntbt", source="Orphanet:352665"}
xref: Orphanet:352665 {source="MONDO:equivalentTo"}
xref: UMLS:CN204512 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016908 {source="Orphanet:352665"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0018681 {source="Orphanet:352665"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204512
property_value: exactMatch Orphanet:352665

[Term]
id: MONDO:0018132
name: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
def: "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." [Orphanet:352687]
subset: gard_rare {source="GARD:0012588"}
subset: ordo_group_of_disorders {source="Orphanet:352687"}
synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [Orphanet:352687]
synonym: "MDDGA" EXACT [Orphanet:352687]
xref: GARD:0012588 {source="MONDO:equivalentTo"}
xref: Orphanet:352687 {source="MONDO:equivalentTo"}
is_a: MONDO:0018276 {source="Orphanet:352687"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018869 {source="MONDOLEX:0018132", source="Orphanet:352687"} ! cobblestone lissencephaly
property_value: exactMatch Orphanet:352687
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies xsd:anyURI {source="GARD:0012588"}

[Term]
id: MONDO:0018133
name: attenuated Chédiak-Higashi syndrome
def: "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." [Orphanet:352723]
subset: ordo_disease {source="Orphanet:352723"}
synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723]
synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723]
synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723]
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="ORDO:352723/attributed", source="ORDO:352723/ntbt", source="Orphanet:352723"}
xref: Orphanet:352723 {source="MONDO:equivalentTo"}
xref: SCTID:720520009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304022 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204519 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016132 {source="Orphanet:352723"} ! rare hereditary disease with peripheral neuropathy
is_a: MONDO:0024237 {source="Orphanet:352723"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/720520009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204519
property_value: exactMatch Orphanet:352723

[Term]
id: MONDO:0018134
name: disorder of melanin metabolism
subset: ordo_group_of_disorders {source="Orphanet:352728"}
xref: Orphanet:352728 {source="MONDO:equivalentTo"}
xref: UMLS:CN227269 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:352728"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227269
property_value: exactMatch Orphanet:352728

[Term]
id: MONDO:0018135
name: oculocutaneous albinism type 1
def: "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." [Orphanet:352731]
subset: ordo_disease {source="Orphanet:352731"}
synonym: "ATN" RELATED [GARD:0004037]
synonym: "OCA1" EXACT [Orphanet:352731]
synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037]
xref: GARD:0004037 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:352731/attributed", source="ORDO:352731/ntbt", source="Orphanet:352731"}
xref: Orphanet:352731 {source="MONDO:equivalentTo"}
xref: SCTID:765146000 {source="MONDO:equivalentTo"}
xref: UMLS:CN119529 {source="MONDO:equivalentTo"}
is_a: MONDO:0018910 {source="Orphanet:352731"} ! oculocutaneous albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268494
property_value: exactMatch http://identifiers.org/snomedct/765146000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN119529
property_value: exactMatch Orphanet:352731

[Term]
id: MONDO:0018136
name: minimal pigment oculocutaneous albinism type 1
def: "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." [Orphanet:352734]
subset: ordo_clinical_subtype {source="Orphanet:352734"}
synonym: "MP OCA type 1" EXACT [Orphanet:352734]
synonym: "OCA1-MP" EXACT [Orphanet:352734]
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:352734/attributed", source="ORDO:352734/ntbt", source="Orphanet:352734"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:352734 {source="MONDO:equivalentTo"}
xref: SCTID:237919007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20"}
xref: UMLS:CN204521 {source="MONDO:equivalentTo"}
is_a: MONDO:0018135 {source="MONDOLEX:0018136", source="Orphanet:352734"} ! oculocutaneous albinism type 1
property_value: exactMatch http://identifiers.org/snomedct/237919007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204521
property_value: exactMatch Orphanet:352734

[Term]
id: MONDO:0018137
name: temperature-sensitive oculocutaneous albinism type 1
def: "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." [Orphanet:352737]
subset: ordo_clinical_subtype {source="Orphanet:352737"}
synonym: "OCA1-TS" EXACT [Orphanet:352737]
synonym: "TS OCA type 1" EXACT [Orphanet:352737]
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:352737", source="ORDO:352737/attributed", source="ORDO:352737/ntbt"}
xref: Orphanet:352737 {source="MONDO:equivalentTo"}
xref: UMLS:C1847132 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:352737"}
is_a: MONDO:0018135 {source="MONDOLEX:0018137", source="Orphanet:352737"} ! oculocutaneous albinism type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847132
property_value: exactMatch Orphanet:352737

[Term]
id: MONDO:0018138
name: ocular albinism with congenital sensorineural deafness
subset: ordo_disease {source="Orphanet:352740"}
synonym: "albinism, ocular, with sensorineural deafness" RELATED [OMIM:103470]
synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [DOID:0090100]
synonym: "digenic Waardenburg syndrome/albinism" EXACT [DOID:0090100]
synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [DOID:0090100]
synonym: "ocular albinism with sensorineural deafness" EXACT [MONDO:0007076]
synonym: "Waardenburg syndrome type 2 with ocular albinism" EXACT [Orphanet:352740]
synonym: "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive" RELATED [OMIM:103470]
synonym: "WS2-OA" EXACT [DOID:0090100]
xref: DOID:0090100 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="DOID:0090100", source="Orphanet:352740", source="ORDO:352740/attributed", source="ORDO:352740/ntbt"}
xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="ORDO:352740/e", source="MONDO:equivalentTo"}
xref: Orphanet:352740 {source="MONDO:subClassOf", source="OMIM:103470", source="DOID:0090100", source="MONDO:equivalentTo"}
xref: UMLS:C1863198 {source="OMIM:103470", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017304 {source="Orphanet:352740"} ! ocular albinism (disease)
is_a: MONDO:0018094 {source="OMIM:103470"} ! Waardenburg syndrome
property_value: exactMatch DOID:0090100
property_value: exactMatch http://identifiers.org/omim/103470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863198
property_value: exactMatch Orphanet:352740

[Term]
id: MONDO:0018139
name: scleredema
subset: ordo_disease {source="Orphanet:352763"}
synonym: "Buschke scleredema" EXACT [Orphanet:352763]
xref: GARD:0005975 {source="MONDO:equivalentTo"}
xref: ICD10:M34.8 {source="ORDO:352763/ntbt", source="Orphanet:352763"}
xref: Orphanet:352763 {source="MONDO:equivalentTo"}
xref: SCTID:95323007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.21"}
is_a: MONDO:0019546 {source="Orphanet:352763"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/snomedct/95323007
property_value: exactMatch Orphanet:352763

[Term]
id: MONDO:0018140
name: obsolete burning mouth syndrome
is_obsolete: true
replaced_by: MONDO:0006687

[Term]
id: MONDO:0018141
name: pyruvate carboxylase deficiency, infantile form
def: "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." [Orphanet:353308]
subset: ordo_clinical_subtype {source="Orphanet:353308"}
synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308]
synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308]
xref: ICD10:E74.4 {source="ORDO:353308/attributed", source="ORDO:353308/ntbt", source="Orphanet:353308"}
xref: Orphanet:353308 {source="MONDO:equivalentTo"}
xref: UMLS:CN204538 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009949 {source="Orphanet:353308"} ! pyruvate carboxylase deficiency disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204538
property_value: exactMatch Orphanet:353308

[Term]
id: MONDO:0018142
name: pyruvate carboxylase deficiency, severe neonatal type
def: "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." [Orphanet:353314]
subset: ordo_clinical_subtype {source="Orphanet:353314"}
synonym: "pyruvate carboxylase deficiency type B" EXACT [Orphanet:353314]
xref: ICD10:E74.4 {source="ORDO:353314/attributed", source="ORDO:353314/ntbt", source="Orphanet:353314"}
xref: Orphanet:353314 {source="MONDO:equivalentTo"}
xref: UMLS:CN204539 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009949 {source="Orphanet:353314"} ! pyruvate carboxylase deficiency disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204539
property_value: exactMatch Orphanet:353314

[Term]
id: MONDO:0018143
name: pyruvate carboxylase deficiency, benign type
def: "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." [Orphanet:353320]
subset: ordo_clinical_subtype {source="Orphanet:353320"}
synonym: "pyruvate carboxylase deficiency type C" EXACT [Orphanet:353320]
xref: ICD10:E74.4 {source="Orphanet:353320", source="ORDO:353320/attributed", source="ORDO:353320/ntbt"}
xref: Orphanet:353320 {source="MONDO:equivalentTo"}
xref: UMLS:CN204540 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009949 {source="Orphanet:353320"} ! pyruvate carboxylase deficiency disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204540
property_value: exactMatch Orphanet:353320

[Term]
id: MONDO:0018144
name: congenital myasthenic syndromes with glycosylation defect
subset: ordo_etiological_subtype {source="Orphanet:353327"}
xref: ICD10:G70.2 {source="ORDO:353327/attributed", source="ORDO:353327/ntbt", source="Orphanet:353327"}
xref: Orphanet:353327 {source="MONDO:equivalentTo"}
is_a: MONDO:0017740 {source="Orphanet:353327"} ! disorder of protein N-glycosylation
is_a: MONDO:0018284 {source="Orphanet:353327"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0018940 {source="MONDOLEX:0018144", source="Orphanet:353327"} ! congenital myasthenic syndrome
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:353327

[Term]
id: MONDO:0018145
name: congenital retinal arteriovenous communication
subset: ordo_morphological_anomaly {source="Orphanet:353334"}
synonym: "congenital arteriovenous anastomoses of the retina" EXACT [Orphanet:353334]
synonym: "congenital arteriovenous communication of the retina" EXACT [Orphanet:353334]
synonym: "congenital retinal arteriovenous anastomoses" EXACT [Orphanet:353334]
xref: ICD10:Q14.8 {source="Orphanet:353334", source="ORDO:353334/ntbt"}
xref: Orphanet:353334 {source="MONDO:equivalentTo"}
is_a: MONDO:0015145 {source="Orphanet:353334"} ! neurovascular malformation
property_value: exactMatch Orphanet:353334

[Term]
id: MONDO:0018146
name: idiopathic macular telangiectasia type 1
def: "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." [Orphanet:353344]
subset: ordo_disease {source="Orphanet:353344"}
synonym: "aneurysmal telangiectasia" EXACT [Orphanet:353344]
synonym: "visible and exudative idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353344]
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:353344", source="ORDO:353344/ntbt"}
xref: Orphanet:353344 {source="MONDO:equivalentTo"}
xref: UMLS:CN204544 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018833 {source="Orphanet:353344"} ! rare idiopathic macular telangiectasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204544
property_value: exactMatch Orphanet:353344

[Term]
id: MONDO:0018147
name: idiopathic macular telangiectasia type 3
def: "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." [Orphanet:353351]
subset: ordo_disease {source="Orphanet:353351"}
synonym: "occlusive idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353351]
xref: ICD10:H35.5 {source="Orphanet:353351", source="MONDO:relatedTo", source="ORDO:353351/ntbt"}
xref: Orphanet:353351 {source="MONDO:equivalentTo"}
xref: UMLS:CN204545 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018833 {source="Orphanet:353351"} ! rare idiopathic macular telangiectasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204545
property_value: exactMatch Orphanet:353351

[Term]
id: MONDO:0018148
name: vasoproliferative tumor of retina
def: "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." [Orphanet:353356]
subset: ordo_disease {source="Orphanet:353356"}
synonym: "retinal vasoproliferative tumor" EXACT [Orphanet:353356]
synonym: "vasoproliferative tumor of ocular fundus" EXACT [Orphanet:353356]
synonym: "vasoproliferative tumor of the ocular fundus" EXACT [Orphanet:353356]
synonym: "vasoproliferative tumor of the retina" RELATED [Orphanet:353356]
synonym: "VPTR" EXACT [Orphanet:353356]
xref: ICD10:D31.2 {source="Orphanet:353356", source="ORDO:353356/ntbt"}
xref: Orphanet:353356 {source="MONDO:equivalentTo"}
xref: UMLS:CN204546 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020676 {source="Orphanet:353356"} ! disease of central nervous system or retinal vasculature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120", source="MONDO:0019110"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204546
property_value: exactMatch Orphanet:353356

[Term]
id: MONDO:0018149
name: GM1 gangliosidosis
def: "GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." [Orphanet:354]
subset: ordo_disease {source="Orphanet:354"}
synonym: "Beta galactosidase 1 deficiency" RELATED [GARD:0010891]
synonym: "Beta-galactosidase deficiency" EXACT [DOID:3322]
synonym: "beta-galactosidase deficiency" EXACT [DOID:3322]
synonym: "Beta-galactosidase-1 deficiency" EXACT [Orphanet:354]
synonym: "Beta-galactosidosis" RELATED [GARD:0010891]
synonym: "deficiency of beta-galactosidase" EXACT [DOID:3322]
synonym: "gangliosidosis GM1" EXACT [MONDO:0002609]
synonym: "GLB 1 deficiency" RELATED [GARD:0010891]
synonym: "GLB1 deficiency" EXACT [Orphanet:354]
synonym: "GM>1< gangliosidosis" EXACT [DOID:3322]
synonym: "Landing disease" EXACT [Orphanet:354]
synonym: "Landing syndrome" EXACT [CSP2005:1849-8633, DOID:3322]
xref: DOID:3322 {source="MONDO:equivalentTo"}
xref: GARD:0010891 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.1 {source="ORDO:354/ntbt", source="ORDO:354/inclusion", source="Orphanet:354"}
xref: ICD10:E75.19 {source="DOID:3322"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016537 {source="DOID:3322", source="MONDO:equivalentTo", source="ORDO:354/e", source="Orphanet:354"}
xref: NCIT:C84739 {source="DOID:3322", source="MONDO:equivalentTo"}
xref: Orphanet:354 {source="MONDO:equivalentTo"}
xref: SCTID:124465002 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0085131 {source="DOID:3322", source="MONDO:equivalentTo", source="NCIT:C84739", source="ORDO:354/e", source="Orphanet:354"}
is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis
is_a: MONDO:0019058 {source="Orphanet:354"} ! neurometabolic disease
is_a: MONDO:0019706 {source="Orphanet:354"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020244 {source="Orphanet:354"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020262 {source="Orphanet:354"} ! nervous system anomaly with eye involvement
is_a: MONDO:0020282 {source="Orphanet:354"} ! metabolic disease with macular cherry-red spot
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/238025006
property_value: closeMatch http://identifiers.org/snomedct/32917001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268271
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2718068
property_value: exactMatch DOID:3322
property_value: exactMatch http://identifiers.org/mesh/D016537
property_value: exactMatch http://identifiers.org/snomedct/124465002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085131
property_value: exactMatch NCIT:C84739
property_value: exactMatch Orphanet:354

[Term]
id: MONDO:0018150
name: Gaucher disease
def: "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." [Orphanet:355]
subset: ordo_disease {source="Orphanet:355"}
synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, Orphanet:355]
synonym: "acute cerebral Gaucher disease" NARROW [GARD:0008233]
synonym: "cerebroside lipidosis syndrome" RELATED []
synonym: "Gaucher disease" EXACT [DOID:1926]
synonym: "Gaucher splenomegaly" RELATED []
synonym: "Gaucher syndrome" EXACT []
synonym: "Gaucher's disease" EXACT [DOID:1926]
synonym: "glocucerebrosidase deficiency" EXACT [DOID:1926]
synonym: "glucocerebrosidase deficiency" EXACT [Orphanet:355]
synonym: "glucocerebrosidosis" EXACT []
synonym: "glucosyl cerebroside lipidosis" RELATED [GARD:0008233]
synonym: "glucosylceramidase deficiency" EXACT []
synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [DOID:1926]
synonym: "kerasin histiocytosis" RELATED []
synonym: "kerasin lipoidosis" RELATED []
synonym: "kerasin thesaurismosis" EXACT [DOID:1926]
synonym: "lipoid histiocytosis" EXACT [DOID:1926]
synonym: "lipoid histiocytosis (kerasin type)" EXACT [CSP2005:1849-8920, DOID:1926]
synonym: "sphingolipidosis 1" RELATED [GARD:0008233]
xref: DOID:1926 {source="MONDO:equivalentTo"}
xref: GARD:0008233 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.2 {source="ORDO:355/inclusion", source="ORDO:355/ntbt", source="Orphanet:355"}
xref: ICD10:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: MedDRA:10018048 {source="ORDO:355/e", source="Orphanet:355"}
xref: MESH:D005776 {source="MONDO:equivalentTo", source="ORDO:355/e", source="DOID:1926", source="Orphanet:355"}
xref: NCIT:C61268 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1926"}
xref: Orphanet:355 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: SCTID:190794006 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: UMLS:C0017205 {source="MONDO:equivalentTo", source="ORDO:355/e", source="DOID:1926", source="NCIT:C61268", source="Orphanet:355"}
is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="MONDOLEX:0018150", source="NCIT:C61268", source="Orphanet:355", source="linkedlifedata"} ! sphingolipidosis
is_a: MONDO:0020258 {source="Orphanet:355"} ! oculomotor apraxia or related oculomotor disease
is_a: MONDO:0020279 {source="Orphanet:355"} ! metabolic disease with corneal opacity
property_value: closeMatch http://identifiers.org/snomedct/180485001
property_value: closeMatch http://identifiers.org/snomedct/2859005
property_value: closeMatch http://identifiers.org/snomedct/62201009
property_value: exactMatch DOID:1926
property_value: exactMatch http://identifiers.org/meddra/10018048
property_value: exactMatch http://identifiers.org/mesh/D005776
property_value: exactMatch http://identifiers.org/snomedct/190794006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017205
property_value: exactMatch NCIT:C61268
property_value: exactMatch Orphanet:355

[Term]
id: MONDO:0018151
name: coenzyme Q10 deficiency
def: "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." [NCIT:C142083]
subset: gard_rare {source="GARD:0010423"}
subset: ordo_group_of_disorders {source="Orphanet:35656"}
synonym: "coenzyme Q10 deficiency disease" EXACT [MONDO:0000423]
synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730]
synonym: "CoQ10 deficiency" EXACT [Orphanet:35656]
synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423]
xref: DOID:0050730 {source="MONDO:equivalentTo"}
xref: GARD:0010423 {source="MONDO:equivalentTo"}
xref: MESH:C564403 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C142083 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:607426 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:35656 {source="MONDO:equivalentTo"}
xref: SCTID:724575009 {source="MONDO:equivalentTo"}
xref: UMLS:C1843920 {source="Orphanet:35656", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN229570 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016402 {source="Orphanet:35656"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:35656"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016578 {source="Orphanet:35656"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
is_a: MONDO:0019058 {source="Orphanet:35656"} ! neurometabolic disease
property_value: exactMatch DOID:0050730
property_value: exactMatch http://identifiers.org/mesh/C564403
property_value: exactMatch http://identifiers.org/snomedct/724575009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1843920
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229570
property_value: exactMatch NCIT:C142083
property_value: exactMatch Orphanet:35656
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency xsd:anyURI {source="GARD:0010423"}

[Term]
id: MONDO:0018152
name: serpiginous choroiditis
def: "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." [https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis]
subset: gard_rare {source="GARD:0000031"}
subset: ordo_disease {source="Orphanet:35686"}
synonym: "geographic choroiditis" RELATED [GARD:0000031]
synonym: "geographic helicoid peripapillary choroidopathy" EXACT [Orphanet:35686]
synonym: "geographic helicoid peripapillary choroidopathy (GHPC)" RELATED [GARD:0000031]
synonym: "geographic serpiginous choroiditis" RELATED [GARD:0000031]
synonym: "peripapillary choriopathy" RELATED [GARD:0000031]
synonym: "serpiginous choroidopathy" RELATED [GARD:0000031]
xref: GARD:0000031 {source="MONDO:equivalentTo"}
xref: ICD10:H30.8 {source="ORDO:35686/ntbt", source="Orphanet:35686"}
xref: ICD9:363.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:35686 {source="MONDO:equivalentTo"}
xref: SCTID:312491004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.68"}
xref: UMLS:C0729842 {source="MONDO:equivalentTo", source="ORDO:35686/e", source="Orphanet:35686"}
is_a: MONDO:0019541 {source="Orphanet:35686"} ! non-infectious posterior uveitis
property_value: exactMatch http://identifiers.org/snomedct/312491004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729842
property_value: exactMatch Orphanet:35686
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis xsd:anyURI {source="GARD:0000031"}

[Term]
id: MONDO:0018153
name: Erdheim-Chester disease
def: "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." [Orphanet:35687]
subset: ordo_disease {source="Orphanet:35687"}
synonym: "ECD" RELATED [ONCOTREE:ECD]
synonym: "Erdheim Chester disease" RELATED [GARD:0006369]
synonym: "Erdheim-Chester disease" EXACT [NCIT:C53972]
synonym: "lipogranulomatosis" EXACT [NCIT:C53972]
synonym: "lipoid granulomatosis" RELATED [GARD:0006369]
synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972]
xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"}
xref: EFO:1000926 {source="MONDO:equivalentTo"}
xref: GARD:0006369 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D76.3 {source="ORDO:35687/ntbt", source="Orphanet:35687"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10060801 {source="EFO:1000926", source="ORDO:35687/e", source="Orphanet:35687"}
xref: MESH:D031249 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="MONDO:ontobio", source="ORDO:35687/e", source="Orphanet:35687"}
xref: NCIT:C53972 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="exact-label-match"}
xref: ONCOTREE:ECD {source="MONDO:equivalentTo"}
xref: Orphanet:35687 {source="MONDO:equivalentTo"}
xref: SCTID:699537002 {source="MONDO:kboom-pr-1.00/0.78/7.00", source="MONDO:equivalentTo", source="DOID:4329"}
xref: UMLS:C0878675 {source="MONDO:equivalentTo", source="DOID:4329", source="NCIT:C53972", source="ORDO:35687/e", source="Orphanet:35687"}
is_a: MONDO:0015531 {source="DOID:4329", source="MESH:D031249", source="Orphanet:35687"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0017955 {source="Orphanet:35687"} ! granulomatous autoinflammatory syndrome
relationship: disease_has_feature MONDO:0006247 {source="NCIT:C53972"} ! histiocytic and dendritic cell neoplasm
relationship: excluded_subClassOf MONDO:0005509 {source="EFO:1000926"} ! histiocytoma
property_value: closeMatch http://identifiers.org/snomedct/703711007
property_value: exactMatch DOID:4329
property_value: exactMatch http://identifiers.org/meddra/10060801
property_value: exactMatch http://identifiers.org/mesh/D031249
property_value: exactMatch http://identifiers.org/snomedct/699537002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878675
property_value: exactMatch NCIT:C53972
property_value: exactMatch Orphanet:35687

[Term]
id: MONDO:0018154
name: Madelung deformity
def: "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." [Orphanet:35688]
subset: ordo_morphological_anomaly {source="Orphanet:35688"}
xref: GARD:0012973 {source="MONDO:equivalentTo"}
xref: ICD10:Q74.0 {source="Orphanet:35688", source="ORDO:35688/inclusion", source="ORDO:35688/ntbt"}
xref: ICD9:755.54 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10007700 {source="Orphanet:35688", source="ORDO:35688/e"}
xref: Orphanet:35688 {source="MONDO:equivalentTo"}
xref: SCTID:4530000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.37/0.09"}
is_a: MONDO:0007481 ! Leri-Weill dyschondrosteosis
is_a: MONDO:0017429 {source="Orphanet:35688"} ! joint formation defects
property_value: exactMatch http://identifiers.org/meddra/10007700
property_value: exactMatch http://identifiers.org/snomedct/4530000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152441
property_value: exactMatch Orphanet:35688

[Term]
id: MONDO:0018155
name: lateral sclerosis
def: "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." [Orphanet:35689]
subset: ordo_disease {source="Orphanet:35689"}
synonym: "adult-onset PLS" EXACT [Orphanet:35689]
synonym: "adult-onset primary lateral sclerosis" EXACT [DOID:230, Orphanet:35689]
synonym: "PLS" EXACT [Orphanet:35689]
synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM_2006:335.24]
xref: COHD:381003 {source="MONDO:equivalentTo"}
xref: DOID:230 {source="MONDO:equivalentTo"}
xref: GARD:0010684 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:35689", source="ORDO:35689/inclusion", source="ORDO:35689/ntbt"}
xref: ICD10:G12.29 {source="DOID:230"}
xref: ICD9:335.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:230"}
xref: MedDRA:10036704 {source="Orphanet:35689", source="ORDO:35689/e"}
xref: NCIT:C129933 {source="MONDO:equivalentTo"}
xref: Orphanet:35689 {source="MONDO:equivalentTo", source="DOID:230"}
xref: SCTID:81211007 {source="MONDO:equivalentTo", source="DOID:230", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0154682 {source="Orphanet:35689", source="MONDO:equivalentTo", source="DOID:230"}
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968845
property_value: exactMatch DOID:230
property_value: exactMatch http://identifiers.org/meddra/10036704
property_value: exactMatch http://identifiers.org/snomedct/81211007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154682
property_value: exactMatch NCIT:C129933
property_value: exactMatch Orphanet:35689

[Term]
id: MONDO:0018156
name: 3q26q27 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:356947"}
synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947]
synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947]
synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947]
synonym: "monosomy 3q26q27" EXACT [Orphanet:356947]
xref: ICD10:Q93.5 {source="ORDO:356947/attributed", source="ORDO:356947/ntbt", source="Orphanet:356947"}
xref: Orphanet:356947 {source="MONDO:equivalentTo"}
xref: UMLS:CN204590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016902 {source="Orphanet:356947"} ! partial deletion of the long arm of chromosome 3
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204590
property_value: exactMatch Orphanet:356947

[Term]
id: MONDO:0018157
name: mitochondrial disorder due to a defect in mitochondrial protein synthesis
subset: ordo_group_of_disorders {source="Orphanet:35696"}
synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696]
synonym: "combined OXPHOS defect" EXACT [Orphanet:35696]
synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696]
synonym: "COXPD" EXACT [Orphanet:35696]
xref: ICD10:E88.8 {source="ORDO:35696/attributed", source="ORDO:35696/ntbt", source="Orphanet:35696"}
xref: Orphanet:35696 {source="MONDO:equivalentTo"}
xref: UMLS:CN227273 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016578 {source="Orphanet:35696"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227273
property_value: exactMatch Orphanet:35696

[Term]
id: MONDO:0018158
name: mitochondrial DNA depletion syndrome
def: "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome (see these terms)." [Orphanet:35698]
subset: ordo_group_of_disorders {source="Orphanet:35698"}
synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698]
xref: DC:0000284 {source="MONDO:equivalentTo"}
xref: ICD10:G71.3 {source="ORDO:35698/attributed", source="ORDO:35698/ntbt", source="Orphanet:35698"}
xref: MedDRA:10059396 {source="ORDO:35698/e", source="Orphanet:35698"}
xref: OMIMPS:603041 {source="DC:0000284", source="MONDO:equivalentTo"}
xref: Orphanet:35698 {source="MONDO:equivalentTo"}
xref: UMLS:CN239350 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018121 {source="Orphanet:35698"} ! mitochondrial DNA maintenance syndrome
relationship: excluded_subClassOf MONDO:0015188 {source="Orphanet:35698"} ! metabolic disease with intestinal involvement
property_value: exactMatch http://identifiers.org/meddra/10059396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239350
property_value: exactMatch Orphanet:35698

[Term]
id: MONDO:0018159
name: atypical hemolytic-uremic syndrome with DGKE deficiency
subset: ordo_etiological_subtype {source="Orphanet:357008"}
synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008]
xref: ICD10:D58.8 {source="Orphanet:357008", source="ORDO:357008/attributed", source="ORDO:357008/ntbt"}
xref: Orphanet:357008 {source="MONDO:equivalentTo"}
xref: UMLS:CN204596 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016244 {source="Orphanet:357008"} ! atypical hemolytic-uremic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204596
property_value: exactMatch Orphanet:357008

[Term]
id: MONDO:0018160
name: hereditary retinoblastoma
def: "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C8495]
subset: ordo_clinical_subtype {source="Orphanet:357027"}
synonym: "familial retinoblastoma" EXACT [MONDO:0003074]
synonym: "hereditary retinoblastoma" EXACT [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495]
xref: DOID:4648 {source="MONDO:equivalentTo"}
xref: ICD10:C69.2 {source="Orphanet:357027", source="ORDO:357027/attributed", source="ORDO:357027/ntbt"}
xref: NCIT:C8495 {source="MONDO:equivalentTo", source="DOID:4648", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:357027 {source="MONDO:equivalentTo"}
is_a: MONDO:0008380 {source="DOID:4648", source="MONDO:Redundant", source="NCIT:C8495", source="Orphanet:357027"} ! retinoblastoma
is_a: MONDO:0015356 {source="Orphanet:357027"} ! hereditary neoplastic syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0008380 ! retinoblastoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751483
property_value: exactMatch DOID:4648
property_value: exactMatch NCIT:C8495
property_value: exactMatch Orphanet:357027

[Term]
id: MONDO:0018161
name: non-hereditary retinoblastoma
subset: ordo_clinical_subtype {source="Orphanet:357034"}
xref: ICD10:C69.2 {source="ORDO:357034/attributed", source="ORDO:357034/ntbt", source="Orphanet:357034"}
xref: Orphanet:357034 {source="MONDO:equivalentTo"}
xref: UMLS:CN204600 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008380 {source="Orphanet:357034"} ! retinoblastoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204600
property_value: exactMatch Orphanet:357034

[Term]
id: MONDO:0018162
name: neurometabolic disorder due to serine deficiency
def: "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." [Orphanet:35705]
subset: ordo_group_of_disorders {source="Orphanet:35705"}
synonym: "serine deficiency" EXACT [Orphanet:35705]
xref: ICD10:E72.8 {source="Orphanet:35705", source="ORDO:35705/attributed", source="ORDO:35705/ntbt"}
xref: Orphanet:35705 {source="MONDO:equivalentTo"}
xref: UMLS:CN227274 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000421 ! inborn serine deficiency
is_a: MONDO:0019058 {source="Orphanet:35705"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227274
property_value: exactMatch Orphanet:35705

[Term]
id: MONDO:0018163
name: autosomal recessive cutis laxa type 2A
def: "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." [DOID:0070134]
subset: ordo_disease {source="Orphanet:357058"}
synonym: "ARCL2A" EXACT [DOID:0070134, Orphanet:357058]
synonym: "autosomal recessive cutis laxa type IIA" RELATED [DOID:0070134]
xref: DOID:0070134 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:357058", source="DOID:0070134", source="ORDO:357058/attributed", source="ORDO:357058/ntbt"}
xref: Orphanet:357058 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017752 {source="Orphanet:357058"} ! defect in V-ATPase
is_a: MONDO:0018286 {source="Orphanet:357058"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:357058"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018292 {source="Orphanet:357058"} ! congenital disorder of glycosylation-related bone disorder
is_a: MONDO:0018293 {source="Orphanet:357058"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019573 {source="MONDOLEX:0018163", source="Orphanet:357058"} ! autosomal recessive cutis laxa type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268355
property_value: exactMatch DOID:0070134
property_value: exactMatch Orphanet:357058

[Term]
id: MONDO:0018164
name: arterial thoracic outlet syndrome
def: "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents as unilateral upper extremity ischemia." [Orphanet:357107]
subset: ordo_clinical_subtype {source="Orphanet:357107"}
synonym: "arterial cervical rib syndrome" EXACT [Orphanet:357107]
synonym: "arterial costoclavicular syndrome" EXACT [Orphanet:357107]
synonym: "arterial hyperabduction syndrome" EXACT [Orphanet:357107]
synonym: "arterial scalenus anticus syndrome" EXACT [Orphanet:357107]
synonym: "arterial thoracic outlet compression syndrome" EXACT [Orphanet:357107]
synonym: "arterial TOS" EXACT [Orphanet:357107]
synonym: "ATOS" EXACT [Orphanet:357107]
xref: ICD10:G54.0 {source="Orphanet:357107", source="ORDO:357107/ntbt"}
xref: Orphanet:357107 {source="MONDO:equivalentTo"}
xref: SCTID:8051000119105 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1956395 {source="Orphanet:357107", source="MONDO:equivalentTo"}
is_a: MONDO:0005979 {source="MONDOLEX:0018164", source="Orphanet:357107", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic outlet syndrome
property_value: exactMatch http://identifiers.org/snomedct/8051000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956395
property_value: exactMatch Orphanet:357107

[Term]
id: MONDO:0018165
name: venous thoracic outlet syndrome
def: "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." [Orphanet:357131]
subset: ordo_clinical_subtype {source="Orphanet:357131"}
synonym: "effort subclavian vein thrombosis" EXACT [Orphanet:357131]
synonym: "Paget-Schrotter disease" EXACT [Orphanet:357131]
synonym: "Venous cervical rib syndrome" EXACT [Orphanet:357131]
synonym: "Venous costoclavicular syndrome" EXACT [Orphanet:357131]
synonym: "Venous hyperabduction syndrome" EXACT [Orphanet:357131]
synonym: "Venous scalenus anticus syndrome" EXACT [Orphanet:357131]
synonym: "Venous thoracic outlet compression syndrome" EXACT [Orphanet:357131]
synonym: "Venous TOS" EXACT [Orphanet:357131]
synonym: "VTOS" EXACT [Orphanet:357131]
xref: ICD10:G54.0 {source="ORDO:357131/ntbt", source="Orphanet:357131"}
xref: Orphanet:357131 {source="MONDO:equivalentTo"}
xref: SCTID:25981000119102 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1956396 {source="MONDO:equivalentTo", source="Orphanet:357131"}
is_a: MONDO:0005979 {source="MONDOLEX:0018165", source="Orphanet:357131", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic outlet syndrome
property_value: exactMatch http://identifiers.org/snomedct/25981000119102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1956396
property_value: exactMatch Orphanet:357131

[Term]
id: MONDO:0018166
name: oral submucous fibrosis
def: "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." [Orphanet:357154]
subset: gard_rare {source="GARD:0007264"}
subset: ordo_disease {source="Orphanet:357154"}
synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773]
synonym: "oral submucosal fibrosis" EXACT [DOID:5773]
synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9CM_2006:528.8]
synonym: "OSMF" EXACT [Orphanet:357154]
xref: DOID:5773 {source="MONDO:equivalentTo"}
xref: EFO:1001818 {source="MONDO:equivalentTo"}
xref: GARD:0007264 {source="MONDO:equivalentTo"}
xref: ICD10:K13.5 {source="DOID:5773", source="MONDO:equivalentTo", source="Orphanet:357154", source="ORDO:357154/e"}
xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C34866 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:357154 {source="MONDO:equivalentTo"}
xref: SCTID:32883009 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0029171 {source="DOID:5773", source="MONDO:equivalentTo", source="NCIT:C34866", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:C0029172 {source="DOID:5773", source="MONDO:equivalentTo", source="Orphanet:357154"}
is_a: MONDO:0006858 {source="DOID:5773", source="MESH:D009914", source="NCIT:C34866/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0019038 {source="Orphanet:357154"} ! rare maxillo-facial surgical disease
property_value: exactMatch DOID:5773
property_value: exactMatch http://identifiers.org/mesh/D009914
property_value: exactMatch http://identifiers.org/snomedct/32883009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029172
property_value: exactMatch NCIT:C34866
property_value: exactMatch Orphanet:357154
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis xsd:anyURI {source="GARD:0007264"}

[Term]
id: MONDO:0018167
name: primary essential cutis verticis gyrata
def: "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." [Orphanet:357220]
subset: ordo_disease {source="Orphanet:357220"}
xref: ICD10:Q82.8 {source="Orphanet:357220", source="ORDO:357220/ntbt"}
xref: Orphanet:357220 {source="MONDO:equivalentTo"}
xref: SCTID:765135003 {source="MONDO:equivalentTo"}
xref: UMLS:CN204615 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019033 {source="Orphanet:357220"} ! primary cutis verticis gyrata
property_value: exactMatch http://identifiers.org/snomedct/765135003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204615
property_value: exactMatch Orphanet:357220

[Term]
id: MONDO:0018168
name: primary non-essential cutis verticis gyrata
subset: ordo_disease {source="Orphanet:357225"}
xref: ICD10:Q82.8 {source="Orphanet:357225", source="ORDO:357225/attributed", source="ORDO:357225/ntbt"}
xref: Orphanet:357225 {source="MONDO:equivalentTo"}
xref: UMLS:CN204616 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:357225"} ! syndromic intellectual disability
is_a: MONDO:0018798 {source="Orphanet:357225"} ! other genetic dermis disorder
is_a: MONDO:0019033 {source="Orphanet:357225"} ! primary cutis verticis gyrata
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204616
property_value: exactMatch Orphanet:357225

[Term]
id: MONDO:0018169
name: morning glory syndrome
def: "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." [Orphanet:35737]
subset: gard_rare {source="GARD:0013354"}
subset: ordo_morphological_anomaly {source="Orphanet:35737"}
synonym: "Ectasic coloboma" EXACT [Orphanet:35737]
synonym: "Volubilis syndrome" EXACT [Orphanet:35737]
xref: GARD:0013354 {source="MONDO:equivalentTo"}
xref: ICD10:Q14.2 {source="Orphanet:35737", source="ORDO:35737/attributed", source="ORDO:35737/ntbt"}
xref: MedDRA:10027974 {source="ORDO:35737/e", source="Orphanet:35737"}
xref: Orphanet:35737 {source="MONDO:equivalentTo"}
xref: UMLS:C0549307 {source="ORDO:35737/e", source="Orphanet:35737", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0007354 ! coloboma of optic nerve (disease)
is_a: MONDO:0020149 {source="Orphanet:35737"} ! rare eye disease due to a differentiation anomaly
is_a: MONDO:0020249 {source="Orphanet:35737"} ! hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/meddra/10027974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549307
property_value: exactMatch Orphanet:35737
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome xsd:anyURI {source="GARD:0013354"}

[Term]
id: MONDO:0018170
name: idiopathic nephrotic syndrome
def: "Nephrotic syndrome for which no cause has been identified." [NCIT:C122796]
subset: ordo_group_of_disorders {source="Orphanet:357502"}
xref: NCIT:C122796 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:357502 {source="MONDO:equivalentTo"}
xref: UMLS:C3496337 {source="Orphanet:357502", source="MONDO:equivalentTo", source="NCIT:C122796"}
is_a: MONDO:0005377 {source="MONDO:cjm", source="MONDOLEX:0018170", source="NCIT:C122796"} ! nephrotic syndrome
is_a: MONDO:0015163 {source="Orphanet:357502"} ! primary glomerular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3496337
property_value: exactMatch NCIT:C122796
property_value: exactMatch Orphanet:357502

[Term]
id: MONDO:0018171
name: malignant germ cell tumor of ovary
def: "Malignant germ cell tumor of ovary is a rare ovarian cancer (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." [Orphanet:35807]
subset: ordo_group_of_disorders {source="Orphanet:35807"}
synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell tumor of ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell tumor of the ovary" EXACT [NCIT:C4514]
synonym: "malignant ovarian germ cell neoplasm" EXACT [MONDO:0002231, NCIT:C4514]
synonym: "malignant ovarian germ cell tumor" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807]
synonym: "MOGCT" EXACT [Orphanet:35807]
synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807]
synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:2155 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:35807/ntbt", source="Orphanet:35807"}
xref: NCIT:C4514 {source="DOID:2155", source="MONDO:equivalentTo"}
xref: Orphanet:35807 {source="MONDO:equivalentTo"}
xref: SCTID:254869000 {source="DOID:2155", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0346180 {source="MEDGEN:kboom-pr98-c99", source="DOID:2155", source="MONDO:equivalentTo", source="Orphanet:35807", source="NCIT:C4514"}
is_a: MONDO:0006290 {source="MONDO:Redundant", source="MONDOLEX:0018171", source="NCIT:C4514"} ! malignant germ cell tumor
is_a: MONDO:0011366 {source="DOID:2155", source="MONDO:Redundant", source="MONDOLEX:0018171", source="NCIT:C4514", source="linkedlifedata"} ! ovarian germ cell tumor
is_a: MONDO:0018202 {source="Orphanet:35807"} ! gonadal germ cell tumor
is_a: MONDO:0018365 {source="Orphanet:35807"} ! malignant non-epithelial tumor of ovary
property_value: closeMatch http://identifiers.org/mesh/C562841
property_value: exactMatch DOID:2155
property_value: exactMatch http://identifiers.org/snomedct/254869000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346180
property_value: exactMatch NCIT:C4514
property_value: exactMatch Orphanet:35807

[Term]
id: MONDO:0018172
name: malignant sex cord stromal tumor of ovary
def: "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." [Orphanet:35808]
subset: ordo_group_of_disorders {source="Orphanet:35808"}
synonym: "malignant ovarian SCST" EXACT [Orphanet:35808]
synonym: "malignant ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C8053]
synonym: "malignant ovarian Sex cord-stromal tumor" EXACT [NCIT:C8053]
synonym: "malignant ovarian sex cord-stromal tumor" EXACT [Orphanet:35808]
synonym: "malignant Sex cord-stromal tumor of ovary" EXACT [NCIT:C8053]
synonym: "malignant Sex cord-stromal tumor of the ovary" EXACT [NCIT:C8053]
synonym: "ovarian sex cord-stromal tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: ICD10:C56 {source="ORDO:35808/ntbt", source="Orphanet:35808"}
xref: NCIT:C8053 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:35808 {source="MONDO:equivalentTo"}
xref: UMLS:C1334609 {source="MONDO:equivalentTo", source="NCIT:C8053"}
xref: UMLS:CN204631 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018365 {source="Orphanet:35808"} ! malignant non-epithelial tumor of ovary
is_a: MONDO:0021657 {source="MONDO:Redundant", source="MONDOLEX:0018172", source="NCIT:C8053"} ! ovarian sex cord-stromal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204631
property_value: exactMatch NCIT:C8053
property_value: exactMatch Orphanet:35808

[Term]
id: MONDO:0018173
name: acute opioid poisoning
def: "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." [Orphanet:35889]
subset: ordo_disease {source="Orphanet:35889"}
xref: ICD10:T40.0 {source="Orphanet:35889", source="ORDO:35889/btnt"}
xref: ICD10:T40.1 {source="Orphanet:35889", source="ORDO:35889/btnt"}
xref: ICD10:T40.2 {source="Orphanet:35889", source="ORDO:35889/btnt"}
xref: Orphanet:35889 {source="MONDO:equivalentTo"}
xref: UMLS:CN227277 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:35889"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227277
property_value: exactMatch Orphanet:35889

[Term]
id: MONDO:0018174
name: hereditary glaucoma
def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome; see these terms). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." [Orphanet:359]
subset: gard_rare {source="GARD:0002486"}
subset: ordo_group_of_disorders {source="Orphanet:359"}
synonym: "glaucoma, hereditary" RELATED [GARD:0002486]
synonym: "hereditary glaucoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002486 {source="MONDO:equivalentTo"}
xref: MESH:C580055 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:359 {source="MONDO:equivalentTo"}
xref: UMLS:CN227278 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005041 {source="MESH:C580055", source="MONDO:Redundant", source="MONDO:cjm"} ! glaucoma (disease)
intersection_of: MONDO:0005041 ! glaucoma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:359"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/mesh/C580055
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227278
property_value: exactMatch Orphanet:359
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary xsd:anyURI {source="GARD:0002486"}

[Term]
id: MONDO:0018175
name: combined deficiency of factor V and factor VIII
def: "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." [Orphanet:35909]
subset: ordo_disease {source="Orphanet:35909"}
synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3, Orphanet:35909]
synonym: "F5F8D" EXACT [Orphanet:35909]
synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909]
synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909]
xref: DC:0000517 {source="MONDO:equivalentTo"}
xref: ICD10:D68.8 {source="ORDO:35909/attributed", source="ORDO:35909/ntbt", source="Orphanet:35909"}
xref: Orphanet:35909 {source="MONDO:equivalentTo"}
xref: SCTID:715559004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1856883 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:35909"}
is_a: MONDO:0019039 {source="Orphanet:35909"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch http://identifiers.org/snomedct/715559004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1856883
property_value: exactMatch Orphanet:35909

[Term]
id: MONDO:0018176
name: obsolete polymicrogyria
is_obsolete: true
replaced_by: MONDO:0000087

[Term]
id: MONDO:0018177
name: glioblastoma (disease)
def: "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" [NCIT:C3058]
subset: ordo_disease {source="Orphanet:360"}
synonym: "adult glioblastoma multiforme" EXACT EXCLUDE [DOID:3068]
synonym: "GBM" EXACT [DOID:3068, NCIT:C3058, Orphanet:360]
synonym: "GBM (glioblastoma)" EXACT [DOID:3068, NCIT:C3058]
synonym: "giant cell glioblastoma (histologic variant)" RELATED [GARD:0002491]
synonym: "glioblastoma" EXACT [MONDO:ambiguous, NCIT:C3058]
synonym: "glioblastoma multiforme" EXACT [NCIT:C3058, Orphanet:360]
synonym: "glioblastoma multiforme (disease)" EXACT [MONDO:0002498]
synonym: "gliosarcoma (histologic variant)" RELATED [GARD:0002491]
synonym: "grade IV adult astrocytic tumor" EXACT [DOID:3068, NCIT:C9094]
synonym: "grade IV astrocytic neoplasm" EXACT [NCIT:C3058]
synonym: "grade IV astrocytic tumor" EXACT [NCIT:C3058]
synonym: "grade IV astrocytoma" EXACT [NCIT:C3058]
synonym: "primary glioblastoma multiforme" EXACT [DOID:3068]
synonym: "spongioblastoma multiforme" EXACT [CSP2005:2012-6410, DOID:3068, NCIT:C3058]
synonym: "WHO grade IV glioma" EXACT [NCIT:C3058]
xref: DOID:3068 {source="MONDO:equivalentTo"}
xref: GARD:0002491 {source="MONDO:equivalentTo"}
xref: HP:0012174 {source="MONDO:otherHierarchy", source="ontobio"}
xref: HP:0100843 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C71.9 {source="ORDO:360/ntbt", source="Orphanet:360"}
xref: ICDO:9440/3 {source="NCIT:C3058"}
xref: MedDRA:10018336 {source="ORDO:360/e", source="Orphanet:360"}
xref: MedDRA:10018337 {source="ORDO:360/e", source="Orphanet:360"}
xref: NCIT:C3058 {source="DOID:3068", source="MONDO:equivalentTo"}
xref: ONCOTREE:GB {source="MONDO:equivalentTo"}
xref: ONCOTREE:GBM {source="MONDO:equivalentTo"}
xref: Orphanet:360 {source="MONDO:equivalentTo"}
xref: SCTID:393563007 {source="MONDO:equivalentTo"}
xref: UMLS:C0017636 {source="DOID:3068", source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360", source="NCIT:C3058"}
xref: UMLS:C1621958 {source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN227279 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016680 {source="NCIT:C3058", source="Orphanet:360"} ! high grade astrocytic tumor
relationship: has_modifier MONDO:0024494 {source="NCIT:C3058"} ! tumor grade 4, general grading system
property_value: closeMatch http://identifiers.org/snomedct/189917003
property_value: closeMatch http://identifiers.org/snomedct/269506004
property_value: closeMatch http://identifiers.org/snomedct/63634009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278878
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514422
property_value: closeMatch NCIT:C39750
property_value: exactMatch DOID:3068
property_value: exactMatch http://identifiers.org/meddra/10018336
property_value: exactMatch http://identifiers.org/meddra/10018337
property_value: exactMatch http://identifiers.org/mesh/D005909
property_value: exactMatch http://identifiers.org/snomedct/393563007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017636
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1621958
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227279
property_value: exactMatch NCIT:C3058
property_value: exactMatch Orphanet:360

[Term]
id: MONDO:0018178
name: intestinal lymphangiectasia (disease)
def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." [MESH:D008201]
subset: ordo_group_of_disorders {source="Orphanet:36204"}
synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous]
xref: GARD:0012331 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002593 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:I89.0 {source="ORDO:36204/ntbt", source="Orphanet:36204"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10025213 {source="ORDO:36204/e", source="Orphanet:36204"}
xref: Orphanet:36204 {source="MONDO:equivalentTo"}
xref: SCTID:197260007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.85"}
is_a: MONDO:0005020 {source="Orphanet:36204"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10025213
property_value: exactMatch http://identifiers.org/mesh/D008201
property_value: exactMatch http://identifiers.org/snomedct/197260007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024215
property_value: exactMatch Orphanet:36204

[Term]
id: MONDO:0018179
name: obsolete bacterial toxic-shock syndrome
is_obsolete: true
replaced_by: MONDO:0001881

[Term]
id: MONDO:0018180
name: staphylococcal scarlet fever
subset: ordo_disease {source="Orphanet:36235"}
xref: ICD10:A38 {source="ORDO:36235/ntbt", source="MONDO:relatedTo", source="Orphanet:36235"}
xref: Orphanet:36235 {source="MONDO:equivalentTo"}
xref: UMLS:CN204670 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017592 {source="Orphanet:36235"} ! staphylococcal toxemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204670
property_value: exactMatch Orphanet:36235

[Term]
id: MONDO:0018181
name: staphylococcal scalded skin syndrome
def: "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." [NCIT:C85077]
subset: ordo_disease {source="Orphanet:36236"}
synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063, MTHICD9_2006:695.81]
synonym: "generalized exfoliative disease" EXACT [Orphanet:36236]
synonym: "pemphigus neonatorum" EXACT [DOID:9063]
synonym: "Ritter disease" EXACT [DOID:9063, MONDO:0005948]
synonym: "Ritter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "scalded skin syndrome" EXACT [DOID:9063, MTHICD9_2006:695.1]
synonym: "SSSS" EXACT ABBREVIATION [Orphanet:36236]
synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063]
synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063]
xref: COHD:132392 {source="MONDO:equivalentTo"}
xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"}
xref: EFO:0007473 {source="MONDO:equivalentTo"}
xref: ICD10:L00 {source="DOID:9063", source="MONDO:equivalentTo", source="ORDO:36236/e", source="Orphanet:36236"}
xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10041929 {source="ORDO:36236/e", source="Orphanet:36236"}
xref: MESH:D013206 {source="DOID:9063", source="MONDO:equivalentTo", source="ORDO:36236/e", source="EFO:0007473", source="Orphanet:36236"}
xref: NCIT:C85077 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:36236 {source="MONDO:equivalentTo"}
xref: SCTID:200946001 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="DOID:9063", source="MONDO:equivalentTo"}
xref: SCTID:277475006 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0038165 {source="DOID:9063", source="MONDO:equivalentTo", source="NCIT:C85077", source="ORDO:36236/e", source="Orphanet:36236"}
xref: UMLS:C0678185 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000315 {source="DOID:9063"} ! commensal bacterial infectious disease
is_a: MONDO:0005545 ! staphylococcus aureus infection
is_a: MONDO:0017592 {source="Orphanet:36236"} ! staphylococcal toxemia
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
relationship: excluded_subClassOf MONDO:0002254 {source="MONDOLEX:0018181", source="NCIT:C85077"} ! syndromic disease
property_value: closeMatch http://identifiers.org/snomedct/367537006
property_value: closeMatch http://identifiers.org/snomedct/87758007
property_value: exactMatch DOID:9063
property_value: exactMatch http://identifiers.org/meddra/10041929
property_value: exactMatch http://identifiers.org/mesh/D013206
property_value: exactMatch http://identifiers.org/snomedct/200946001
property_value: exactMatch http://identifiers.org/snomedct/277475006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0678185
property_value: exactMatch NCIT:C85077
property_value: exactMatch Orphanet:36236

[Term]
id: MONDO:0018182
name: bullous impetigo
def: "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." [Orphanet:36237]
subset: ordo_disease {source="Orphanet:36237"}
xref: ICD10:L01.0 {source="ORDO:36237/ntbt", source="Orphanet:36237"}
xref: ICD10:L01.03 {source="MONDO:equivalentTo"}
xref: MedDRA:10006563 {source="ORDO:36237/e", source="Orphanet:36237"}
xref: Orphanet:36237 {source="MONDO:equivalentTo"}
xref: SCTID:399183005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.79"}
xref: UMLS:C0021100 {source="MONDO:equivalentTo", source="ORDO:36237/e", source="Orphanet:36237"}
is_a: MONDO:0017592 {source="Orphanet:36237"} ! staphylococcal toxemia
is_a: MONDO:0019546 {source="Orphanet:36237"} ! other acquired skin disease
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: exactMatch http://identifiers.org/meddra/10006563
property_value: exactMatch http://identifiers.org/snomedct/399183005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021100
property_value: exactMatch Orphanet:36237

[Term]
id: MONDO:0018183
name: staphylococcal necrotizing pneumonia
def: "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." [Orphanet:36238]
subset: ordo_disease {source="Orphanet:36238"}
xref: ICD10:J15.2 {source="Orphanet:36238", source="ORDO:36238/ntbt"}
xref: Orphanet:36238 {source="MONDO:equivalentTo"}
xref: SCTID:763888005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:36238"} ! respiratory system disease
is_a: MONDO:0017592 {source="Orphanet:36238"} ! staphylococcal toxemia
property_value: exactMatch http://identifiers.org/snomedct/763888005
property_value: exactMatch Orphanet:36238

[Term]
id: MONDO:0018184
name: gastric linitis plastica
def: "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." [Orphanet:36273]
subset: ordo_clinical_situation {source="Orphanet:36273"}
synonym: "Borrmann gastric cancer type 4" EXACT [Orphanet:36273]
synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273]
xref: ICD10:C16.9 {source="ORDO:36273/ntbt", source="Orphanet:36273"}
xref: Orphanet:36273 {source="MONDO:equivalentTo"}
xref: SCTID:721629005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:CN204677 {source="MONDO:equivalentTo"}
is_a: MONDO:0005017 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42"} ! diffuse gastric adenocarcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/721629005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204677
property_value: exactMatch Orphanet:36273

[Term]
id: MONDO:0018185
name: congenital anomaly of the great veins
subset: ordo_group_of_disorders {source="Orphanet:363189"}
xref: Orphanet:363189 {source="MONDO:equivalentTo"}
is_a: MONDO:0018723 {source="Orphanet:363189"} ! rare vascular malformation of major vessels
is_a: MONDO:0019512 {source="Orphanet:363189"} ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158632
property_value: exactMatch Orphanet:363189

[Term]
id: MONDO:0018186
name: ring chromosome
def: "Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303]
subset: ordo_group_of_disorders {source="Orphanet:363203"}
synonym: "r" EXACT [NCIT:C3360]
synonym: "supernumerary circular chromosome" EXACT [NCIT:C3360]
xref: ICD10:Q93.2 {source="ORDO:363203/attributed", source="ORDO:363203/ntbt", source="Orphanet:363203"}
xref: MESH:D012303 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3360 {source="MONDO:equivalentTo"}
xref: Orphanet:363203 {source="MONDO:equivalentTo"}
is_a: MONDO:0015153 {source="Orphanet:363203"} ! autosomal monosomy
property_value: exactMatch http://identifiers.org/mesh/D012303
property_value: exactMatch NCIT:C3360
property_value: exactMatch Orphanet:363203

[Term]
id: MONDO:0018187
name: genetic syndromic Pierre Robin syndrome
subset: ordo_group_of_disorders {source="Orphanet:363294"}
xref: Orphanet:363294 {source="MONDO:equivalentTo"}
xref: UMLS:CN204685 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015501 {source="Orphanet:363294"} ! syndrome or malformation associated with head and neck malformations
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204685
property_value: exactMatch Orphanet:363294

[Term]
id: MONDO:0018188
name: genetic intestinal polyposis
subset: ordo_group_of_disorders {source="Orphanet:363314"}
synonym: "familial intestinal polyposis" EXACT [Orphanet:363314]
xref: ICD10:D12.6 {source="ORDO:363314/attributed", source="ORDO:363314/ntbt", source="Orphanet:363314"}
xref: Orphanet:363314 {source="MONDO:equivalentTo"}
xref: UMLS:C2713443 {source="MONDO:equivalentTo", source="Orphanet:363314", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000147 ! polyposis
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005020 {source="Orphanet:363314"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713443
property_value: exactMatch Orphanet:363314

[Term]
id: MONDO:0018189
name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
def: "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." [Orphanet:363429]
subset: ordo_disease {source="Orphanet:363429"}
xref: ICD10:G11.1 {source="Orphanet:363429", source="ORDO:363429/attributed", source="ORDO:363429/ntbt"}
xref: Orphanet:363429 {source="MONDO:equivalentTo"}
xref: UMLS:CN204693 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019216 {source="Orphanet:363429"} ! inborn disorder of amino acid absorption and transport
is_a: MONDO:0020044 {source="Orphanet:363429"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204693
property_value: exactMatch Orphanet:363429

[Term]
id: MONDO:0018190
name: autosomal dominant childhood-onset proximal spinal muscular atrophy
subset: ordo_disease {source="Orphanet:363447"}
synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447]
synonym: "SMALED" EXACT [Orphanet:363447]
synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600]
xref: ICD10:G12.1 {source="ORDO:363447/attributed", source="ORDO:363447/ntbt", source="Orphanet:363447"}
xref: OMIMPS:158600 {source="MONDO:equivalentTo"}
xref: Orphanet:363447 {source="MONDO:equivalentTo"}
xref: UMLS:CN227282 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016224 {source="Orphanet:363447"} ! autosomal dominant proximal spinal muscular atrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227282
property_value: exactMatch Orphanet:363447

[Term]
id: MONDO:0018191
name: tumor of testis and paratestis
subset: ordo_group_of_disorders {source="Orphanet:363472"}
synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472]
xref: Orphanet:363472 {source="MONDO:equivalentTo"}
xref: UMLS:CN204698 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="Orphanet:363472"} ! neoplasm (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015931"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204698
property_value: exactMatch Orphanet:363472

[Term]
id: MONDO:0018192
name: paratesticular adenocarcinoma
subset: ordo_disease {source="Orphanet:363478"}
synonym: "adenocarcinoma of paratestis" EXACT [Orphanet:363478]
synonym: "adenocarcinoma of the paratestis" EXACT [Orphanet:363478]
xref: ICD10:C63.0 {source="ORDO:363478/btnt", source="Orphanet:363478"}
xref: ICD10:C63.1 {source="ORDO:363478/btnt", source="Orphanet:363478"}
xref: ICD10:C63.2 {source="ORDO:363478/btnt", source="Orphanet:363478"}
xref: ICD10:C63.7 {source="ORDO:363478/btnt", source="Orphanet:363478"}
xref: ICD10:C63.8 {source="ORDO:363478/btnt", source="Orphanet:363478"}
xref: Orphanet:363478 {source="MONDO:equivalentTo"}
is_a: MONDO:0018191 {source="Orphanet:363478"} ! tumor of testis and paratestis
property_value: exactMatch Orphanet:363478

[Term]
id: MONDO:0018193
name: testicular teratoma
subset: ordo_disease {source="Orphanet:363483"}
synonym: "teratoma of the testis" EXACT [Orphanet:363483]
xref: ICD10:C62.9 {source="Orphanet:363483", source="ORDO:363483/ntbt"}
xref: Orphanet:363483 {source="MONDO:equivalentTo"}
is_a: MONDO:0010108 ! testicular germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238451
property_value: exactMatch Orphanet:363483

[Term]
id: MONDO:0018194
name: sex cord-stromal tumor of testis
subset: ordo_disease {source="Orphanet:363489"}
synonym: "testicular sex cord-stromal tumor" EXACT [Orphanet:363489]
xref: ICD10:C62.1 {source="ORDO:363489/ntbt", source="Orphanet:363489"}
xref: Orphanet:363489 {source="MONDO:equivalentTo"}
xref: UMLS:CN204701 {source="MONDO:equivalentTo"}
is_a: MONDO:0018191 {source="Orphanet:363489"} ! tumor of testis and paratestis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204701
property_value: exactMatch Orphanet:363489

[Term]
id: MONDO:0018195
name: obsolete non-seminomatous germ cell tumor of testis
is_obsolete: true
replaced_by: MONDO:0002873

[Term]
id: MONDO:0018196
name: obsolete germ cell tumor of testis
is_obsolete: true
replaced_by: MONDO:0010108

[Term]
id: MONDO:0018197
name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form
subset: ordo_disease {source="Orphanet:363534"}
synonym: "mtDNA depletion syndrome, hepatocerebrorenal form" EXACT [Orphanet:363534]
xref: ICD10:E88.8 {source="ORDO:363534/attributed", source="ORDO:363534/ntbt", source="Orphanet:363534"}
xref: Orphanet:363534 {source="MONDO:equivalentTo"}
xref: UMLS:CN204706 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015962 {source="Orphanet:363534"} ! inherited renal tubular disease
is_a: MONDO:0016808 {source="Orphanet:363534"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
is_a: MONDO:0019058 {source="Orphanet:363534"} ! neurometabolic disease
is_a: MONDO:0019744 {source="Orphanet:363534"} ! rare renal tubular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204706
property_value: exactMatch Orphanet:363534

[Term]
id: MONDO:0018198
name: acute encephalopathy with biphasic seizures and late reduced diffusion
def: "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." [Orphanet:363549]
subset: ordo_disease {source="Orphanet:363549"}
synonym: "acute infantile encephalopathy predominantly affecting the frontal lobes" EXACT [Orphanet:363549]
synonym: "AESD" EXACT [Orphanet:363549]
synonym: "AIEF" EXACT [Orphanet:363549]
xref: ICD10:G40.4 {source="ORDO:363549/ntbt", source="Orphanet:363549"}
xref: Orphanet:363549 {source="MONDO:equivalentTo"}
xref: SCTID:766044005 {source="MONDO:equivalentTo"}
is_a: MONDO:0018200 {source="Orphanet:363549"} ! acute encephalopathy with inflammation-mediated status epilepticus
property_value: exactMatch http://identifiers.org/snomedct/766044005
property_value: exactMatch Orphanet:363549

[Term]
id: MONDO:0018199
name: new-onset refractory status epilepticus
def: "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences." [Orphanet:363558]
subset: ordo_disease {source="Orphanet:363558"}
synonym: "De novo cryptogenic refractory multifocal febrile status epilepticus" RELATED [GARD:0012244]
synonym: "New onset refractory status epilepticus" RELATED [GARD:0012244]
synonym: "Norse" EXACT [Orphanet:363558]
xref: GARD:0012244 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G41.8 {source="ORDO:363558/ntbt", source="Orphanet:363558"}
xref: Orphanet:363558 {source="MONDO:equivalentTo"}
is_a: MONDO:0018200 {source="Orphanet:363558"} ! acute encephalopathy with inflammation-mediated status epilepticus
is_a: MONDO:0020073 {source="Orphanet:363558"} ! adolescent-onset epilepsy syndrome
property_value: exactMatch Orphanet:363558

[Term]
id: MONDO:0018200
name: acute encephalopathy with inflammation-mediated status epilepticus
subset: ordo_group_of_disorders {source="Orphanet:363567"}
xref: Orphanet:363567 {source="MONDO:equivalentTo"}
is_a: MONDO:0015657 {source="Orphanet:363567"} ! inflammatory and autoimmune disease with epilepsy
is_a: MONDO:0020072 {source="Orphanet:363567"} ! childhood-onset epilepsy syndrome
property_value: exactMatch Orphanet:363567

[Term]
id: MONDO:0018201
name: extragonadal germ cell tumor
def: "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." [NCIT:C3918]
subset: ordo_group_of_disorders {source="Orphanet:363579"}
synonym: "extragonadal GCT, NOS" RELATED EXCLUDE [NCIT:C3918]
synonym: "extragonadal germ cell neoplasm" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell neoplasms" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell tumor" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell tumors, NOS" RELATED EXCLUDE [NCIT:C3918]
synonym: "neoplasm of extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "neoplasm of the extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "primary extragonadal germ cell tumor" EXACT [NCIT:C3918]
synonym: "tumor of extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "tumor of the extragonadal germ cell" EXACT [NCIT:C3918]
xref: GARD:0009325 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: NCIT:C3918 {source="MONDO:equivalentTo"}
xref: Orphanet:363579 {source="MONDO:equivalentTo"}
xref: UMLS:C0262963 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:CN204711 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="MONDO:0018201/inferred", source="MONDOLEX:0018201", source="MONDOLEX:0018201/inferred", source="NCIT:C3918", source="Orphanet:363579", source="indirect"} ! germ cell tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0018080"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3544268
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262963
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204711
property_value: exactMatch NCIT:C3918
property_value: exactMatch Orphanet:363579

[Term]
id: MONDO:0018202
name: gonadal germ cell tumor
subset: ordo_group_of_disorders {source="Orphanet:363582"}
xref: Orphanet:363582 {source="MONDO:equivalentTo"}
xref: UMLS:CN204712 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="MONDOLEX:0018202", source="Orphanet:363582"} ! germ cell tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0018080"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204712
property_value: exactMatch Orphanet:363582

[Term]
id: MONDO:0018203
name: LMNA-related cardiocutaneous progeria syndrome
def: "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." [Orphanet:363618]
subset: ordo_disease {source="Orphanet:363618"}
synonym: "LCPS" EXACT [Orphanet:363618]
xref: ICD10:E34.8 {source="ORDO:363618/attributed", source="ORDO:363618/ntbt", source="Orphanet:363618"}
xref: Orphanet:363618 {source="MONDO:equivalentTo"}
xref: UMLS:CN204714 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! Mendelian disease
is_a: MONDO:0005267 {source="Orphanet:363618"} ! heart disease
is_a: MONDO:0019303 {source="Orphanet:363618"} ! premature aging syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204714
property_value: exactMatch Orphanet:363618

[Term]
id: MONDO:0018204
name: 20q11.2 microduplication syndrome
def: "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." [Orphanet:363659]
subset: ordo_malformation_syndrome {source="Orphanet:363659"}
synonym: "dup(20)(q11.2)" EXACT [Orphanet:363659]
xref: ICD10:Q93.5 {source="ORDO:363659/attributed", source="ORDO:363659/ntbt", source="Orphanet:363659"}
xref: Orphanet:363659 {source="MONDO:equivalentTo"}
xref: SCTID:763061004 {source="MONDO:equivalentTo"}
xref: UMLS:CN204718 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363659", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:363659"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016970 {source="Orphanet:363659"} ! partial trisomy of the long arm of chromosome 20
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/763061004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204718
property_value: exactMatch Orphanet:363659

[Term]
id: MONDO:0018205
name: distal monosomy 1q
def: "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." [Orphanet:36367]
subset: ordo_malformation_syndrome {source="Orphanet:36367"}
synonym: "distal deletion 1q" EXACT [Orphanet:36367]
synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367]
synonym: "monosomy 1qter" EXACT [Orphanet:36367]
synonym: "telomeric deletion 1q" EXACT [Orphanet:36367]
xref: ICD10:Q93.5 {source="ORDO:36367/attributed", source="ORDO:36367/ntbt", source="Orphanet:36367"}
xref: Orphanet:36367 {source="MONDO:equivalentTo"}
xref: SCTID:717633007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273897 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016900 {source="Orphanet:36367"} ! partial deletion of the long arm of chromosome 1
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/snomedct/717633007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273897
property_value: exactMatch Orphanet:36367

[Term]
id: MONDO:0018206
name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia
subset: ordo_disease {source="Orphanet:363677"}
xref: ICD10:G71.2 {source="ORDO:363677/attributed", source="ORDO:363677/ntbt", source="Orphanet:363677"}
xref: Orphanet:363677 {source="MONDO:equivalentTo"}
is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia
is_a: MONDO:0016112 {source="Orphanet:363677"} ! inclusion myopathy
is_a: MONDO:0020259 {source="Orphanet:363677"} ! myopathy with eye involvement
property_value: exactMatch Orphanet:363677

[Term]
id: MONDO:0018207
name: 2p13.2 microdeletion syndrome
def: "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." [Orphanet:363680]
subset: ordo_malformation_syndrome {source="Orphanet:363680"}
synonym: "Del(2)(p13.2)" EXACT [Orphanet:363680]
xref: ICD10:Q93.5 {source="Orphanet:363680", source="ORDO:363680/attributed", source="ORDO:363680/ntbt"}
xref: Orphanet:363680 {source="MONDO:equivalentTo"}
xref: UMLS:CN204723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:363680"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:363680"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016884 {source="Orphanet:363680"} ! partial deletion of the short arm of chromosome 2
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204723
property_value: exactMatch Orphanet:363680

[Term]
id: MONDO:0018208
name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
subset: ordo_etiological_subtype {source="Orphanet:363700"}
synonym: "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" EXACT [Orphanet:363700]
xref: ICD10:Q85.0 {source="ORDO:363700/attributed", source="ORDO:363700/ntbt", source="Orphanet:363700"}
xref: Orphanet:363700 {source="MONDO:equivalentTo"}
xref: UMLS:CN204726 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018975 {source="MONDOLEX:0018208", source="Orphanet:363700"} ! neurofibromatosis type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204726
property_value: exactMatch Orphanet:363700

[Term]
id: MONDO:0018209
name: Alexander disease type I
def: "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." [Orphanet:363717]
subset: ordo_clinical_subtype {source="Orphanet:363717"}
synonym: "AxD type I" EXACT [Orphanet:363717]
xref: ICD10:E75.2 {source="ORDO:363717/attributed", source="ORDO:363717/ntbt", source="Orphanet:363717"}
xref: Orphanet:363717 {source="MONDO:equivalentTo"}
xref: UMLS:CN204729 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008752 {source="MONDOLEX:0018209", source="Orphanet:363717"} ! Alexander disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204729
property_value: exactMatch Orphanet:363717

[Term]
id: MONDO:0018210
name: Alexander disease type II
def: "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." [Orphanet:363722]
subset: ordo_clinical_subtype {source="Orphanet:363722"}
synonym: "AxD type II" EXACT [Orphanet:363722]
xref: ICD10:E75.2 {source="ORDO:363722/attributed", source="ORDO:363722/ntbt", source="Orphanet:363722"}
xref: Orphanet:363722 {source="MONDO:equivalentTo"}
xref: UMLS:CN204730 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008752 {source="MONDOLEX:0018210", source="Orphanet:363722"} ! Alexander disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204730
property_value: exactMatch Orphanet:363722

[Term]
id: MONDO:0018211
name: Balint syndrome
def: "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." [https://github.com/obophenotype/human-phenotype-ontology/issues/3570, Orphanet:363746]
comment: Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. {source="https://www.ncbi.nlm.nih.gov/pubmed/24607223"}
subset: ordo_disease {source="Orphanet:363746"}
synonym: "Balint-Holmes syndrome" EXACT [Orphanet:363746]
synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:363746]
synonym: "psychic paralysis of visual fixation" EXACT [MONDO:cjm, PMID:13208876]
xref: ICD10:H51.8 {source="ORDO:363746/ntbt", source="Orphanet:363746"}
xref: Orphanet:363746 {source="MONDO:equivalentTo"}
xref: SCTID:765212008 {source="MONDO:equivalentTo"}
xref: UMLS:C0270706 {source="MONDO:equivalentTo", source="Orphanet:363746"}
is_a: MONDO:0005071 {source="Orphanet:363746"} ! nervous system disorder
relationship: disease_has_feature MONDO:0000678 ! simultanagnosia
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/765212008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270706
property_value: exactMatch Orphanet:363746

[Term]
id: MONDO:0018212
name: familial cervical artery dissection
def: "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:36382"}
synonym: "familial CAD" EXACT [Orphanet:36382]
synonym: "hereditary CAD" EXACT [Orphanet:36382]
synonym: "hereditary cervical artery dissection" EXACT [MONDO:patterns/hereditary, Orphanet:36382]
xref: ICD10:I72.0 {source="Orphanet:36382", source="ORDO:36382/attributed", source="ORDO:36382/ntbt"}
xref: ICD10:I72.5 {source="Orphanet:36382", source="ORDO:36382/attributed", source="ORDO:36382/ntbt"}
xref: Orphanet:36382 {source="MONDO:equivalentTo"}
xref: UMLS:CN204734 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006061 ! cervical artery dissection
is_a: MONDO:0015953 {source="Orphanet:36382"} ! genetic central nervous system and retinal vascular disease
intersection_of: MONDO:0006061 ! cervical artery dissection
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204734
property_value: exactMatch Orphanet:36382

[Term]
id: MONDO:0018213
name: hereditary sensory and autonomic neuropathy type 1
def: "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." [Orphanet:36386]
subset: ordo_disease {source="Orphanet:36386"}
synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, Orphanet:36386]
synonym: "hereditary sensory neuropathy type 1" RELATED [GARD:0006635]
synonym: "HSAN 1" RELATED [GARD:0006635]
synonym: "HSAN1" EXACT [DOID:0070162, Orphanet:36386]
synonym: "HSN1" RELATED [GARD:0006635]
synonym: "neuropathy hereditary sensory and autonomic type 1" RELATED [GARD:0006635]
synonym: "neuropathy hereditary sensory radicular, autosomal dominant" RELATED [GARD:0006635]
xref: DOID:0070162 {source="MONDO:equivalentTo"}
xref: GARD:0006635 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:6635 {source="DOID:0070162"}
xref: ICD10:G60.8 {source="ORDO:36386/attributed", source="ORDO:36386/ntbt", source="Orphanet:36386"}
xref: Orphanet:36386 {source="MONDO:equivalentTo", source="DOID:0070162"}
xref: PMID:18348718 {source="DOID:0070162"}
xref: SCTID:397734008 {source="MONDO:equivalentTo", source="DOID:0070162", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015365 {source="Orphanet:36386"} ! autosomal dominant hereditary sensory and autonomic neuropathy
is_a: MONDO:0018119 {source="Orphanet:36386"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
property_value: closeMatch http://identifiers.org/snomedct/230553002
property_value: closeMatch http://identifiers.org/snomedct/52647008
property_value: closeMatch http://identifiers.org/snomedct/87920002
property_value: exactMatch DOID:0070162
property_value: exactMatch http://identifiers.org/snomedct/397734008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020071
property_value: exactMatch Orphanet:36386

[Term]
id: MONDO:0018214
name: generalized epilepsy with febrile seizures plus
def: "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." [Orphanet:36387]
subset: ordo_disease {source="Orphanet:36387"}
synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233]
synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387]
synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:36387]
xref: DOID:0060170 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="ORDO:36387/attributed", source="ORDO:36387/ntbt", source="DOID:0060170", source="Orphanet:36387"}
xref: MESH:C565808 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C122811 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:604233 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="MONDO:equivalentTo", source="DOID:0060170"}
xref: SCTID:699688008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3502809 {source="MONDO:equivalentTo", source="Orphanet:36387", source="NCIT:C122811"}
is_a: MONDO:0005027 {source="https://www.clinicalgenome.org/affiliation/40005/"} ! epilepsy
relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811", source="linkedlifedata"} ! epilepsy, idiopathic generalized
property_value: exactMatch DOID:0060170
property_value: exactMatch http://identifiers.org/mesh/C565808
property_value: exactMatch http://identifiers.org/snomedct/699688008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502809
property_value: exactMatch NCIT:C122811
property_value: exactMatch Orphanet:36387

[Term]
id: MONDO:0018215
name: paraneoplastic neurologic syndrome
def: "A paraneoplastic syndrome that involves the nervous system." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:36388"}
synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location]
synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388]
synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern]
synonym: "PCD" EXACT [Orphanet:36388]
synonym: "PNS" EXACT [Orphanet:36388]
xref: GARD:0007326 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:331.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10072106 {source="ORDO:36388/e", source="Orphanet:36388"}
xref: Orphanet:36388 {source="MONDO:equivalentTo"}
xref: SCTID:192877007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0005071 {source="Orphanet:36388"} ! nervous system disorder
is_a: MONDO:0021073 {source="MONDO:Redundant", source="MONDOLEX:0018215", source="OWLReasoner:2017", source="linkedlifedata"} ! paraneoplastic syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393534
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751911
property_value: exactMatch http://identifiers.org/meddra/10072106
property_value: exactMatch http://identifiers.org/snomedct/192877007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267031
property_value: exactMatch Orphanet:36388

[Term]
id: MONDO:0018216
name: 17q21.31 microdeletion syndrome
subset: ordo_etiological_subtype {source="Orphanet:363958"}
synonym: "Del(17)(q21.31)" EXACT [Orphanet:363958]
synonym: "monosomy 17q21.31" EXACT [Orphanet:363958]
xref: ICD10:Q93.5 {source="ORDO:363958/attributed", source="ORDO:363958/ntbt", source="Orphanet:363958"}
xref: Orphanet:363958 {source="MONDO:equivalentTo"}
xref: UMLS:CN204740 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012496 {source="Orphanet:363958"} ! Koolen de Vries syndrome
is_a: MONDO:0016915 {source="Orphanet:363958"} ! partial deletion of the long arm of chromosome 17
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204740
property_value: exactMatch Orphanet:363958

[Term]
id: MONDO:0018217
name: Koolen-de Vries syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:363965"}
xref: ICD10:Q93.5 {source="ORDO:363965/attributed", source="ORDO:363965/ntbt", source="Orphanet:363965"}
xref: Orphanet:363965 {source="MONDO:equivalentTo"}
xref: UMLS:CN204741 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012496 {source="Orphanet:363965"} ! Koolen de Vries syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204741
property_value: exactMatch Orphanet:363965

[Term]
id: MONDO:0018218
name: autosomal recessive cerebral atrophy
subset: ordo_disease {source="Orphanet:363969"}
xref: ICD10:G31.8 {source="ORDO:363969/attributed", source="ORDO:363969/ntbt", source="Orphanet:363969"}
xref: Orphanet:363969 {source="MONDO:equivalentTo"}
xref: UMLS:CN204742 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0024237 {source="Orphanet:363969"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204742
property_value: exactMatch Orphanet:363969

[Term]
id: MONDO:0018221
name: immune hydrops fetalis
def: "Immune hydrops fetalis (IHF), a form of HF (see this term), describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." [Orphanet:364013]
subset: ordo_clinical_subtype {source="Orphanet:364013"}
synonym: "IHF" EXACT [Orphanet:364013]
synonym: "immune fetal edema" EXACT [Orphanet:364013]
synonym: "immune fetal hydrops" EXACT [Orphanet:364013]
synonym: "immune HF" EXACT [Orphanet:364013]
xref: ICD10:P56.0 {source="Orphanet:364013", source="ORDO:364013/e"}
xref: ICD9:773.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C111904 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:364013 {source="MONDO:equivalentTo"}
xref: SCTID:15539009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.20"}
xref: UMLS:C0455990 {source="Orphanet:364013", source="NCIT:C111904", source="MONDO:equivalentTo"}
is_a: MONDO:0015193 {source="NCIT:C111904", source="Orphanet:364013", source="linkedlifedata"} ! hydrops fetalis (disease)
property_value: exactMatch http://identifiers.org/snomedct/15539009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0455990
property_value: exactMatch NCIT:C111904
property_value: exactMatch Orphanet:364013

[Term]
id: MONDO:0018222
name: X-linked intellectual disability due to GRIA3 anomalies
subset: ordo_disease {source="Orphanet:364028"}
xref: ICD10:F72 {source="ORDO:364028/attributed", source="ORDO:364028/ntbt", source="Orphanet:364028"}
xref: Orphanet:364028 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:364028"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:364028"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:364028

[Term]
id: MONDO:0018223
name: systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
def: "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." [Orphanet:364033]
subset: ordo_disease {source="Orphanet:364033"}
synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [DOID:0070324]
synonym: "systemic EBV+ T-cell LPD of childhood" EXACT [Orphanet:364033]
synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [DOID:0070324, NCIT:C80374]
synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [Orphanet:364033]
synonym: "systemic EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80374]
xref: DOID:0070324 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="Orphanet:364033", source="ORDO:364033/ntbt"}
xref: ICD10CM:D47.9 {source="DOID:0070324"}
xref: ICDO:9724/3 {source="NCIT:C80374"}
xref: NCIT:C80374 {source="DOID:0070324", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ORDO:364033 {source="DOID:0070324"}
xref: Orphanet:364033 {source="MONDO:equivalentTo"}
xref: SCTID:721311006 {source="MONDO:kboom-pr-0.74/0.37/0.50", source="MONDO:equivalentTo"}
xref: UMLS:CN204753 {source="MONDO:equivalentTo"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0003659 {source="DOID:0070324"} ! pediatric lymphoma
is_a: MONDO:0006188 {source="NCIT:C80374"} ! EBV-positive T-cell lymphoproliferative disorder of childhood
is_a: MONDO:0017343 {source="Orphanet:364033"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: closeMatch http://identifiers.org/snomedct/450906003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2699747
property_value: exactMatch DOID:0070324
property_value: exactMatch http://identifiers.org/snomedct/721311006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204753
property_value: exactMatch NCIT:C80374
property_value: exactMatch Orphanet:364033

[Term]
id: MONDO:0018224
name: hydroa vacciniforme-like lymphoma
def: "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." [NCIT:P378]
subset: ordo_disease {source="Orphanet:364039"}
synonym: "angiocentric cutaneous T-cell lymphoma of childhood" EXACT [Orphanet:364039]
synonym: "hV-like lymphoma" EXACT [NCIT:C45327]
synonym: "HVLL" EXACT [Orphanet:364039]
synonym: "hydroa vacciniforme-like cutaneous T-cell lymphoma" EXACT [NCIT:C45327]
synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327]
synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45327]
synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039]
xref: ICD10:C84.5 {source="ORDO:364039/ntbt", source="Orphanet:364039"}
xref: ICDO:9725/3 {source="NCIT:C45327"}
xref: NCIT:C45327 {source="MONDO:equivalentTo"}
xref: Orphanet:364039 {source="MONDO:equivalentTo"}
xref: SCTID:763719001 {source="MONDO:equivalentTo"}
xref: UMLS:C1708397 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45327"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0006188 {source="NCIT:C45327"} ! EBV-positive T-cell lymphoproliferative disorder of childhood
is_a: MONDO:0017343 {source="Orphanet:364039"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: exactMatch http://identifiers.org/snomedct/763719001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708397
property_value: exactMatch NCIT:C45327
property_value: exactMatch Orphanet:364039

[Term]
id: MONDO:0018225
name: ALK-positive large B-cell lymphoma
def: "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL; see this term) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis." [Orphanet:364043]
subset: ordo_disease {source="Orphanet:364043"}
synonym: "ALK+ large B-cell lymphoma" EXACT [Orphanet:364043]
synonym: "ALK+ LBCL" EXACT [Orphanet:364043]
synonym: "ALK-DLBCL" EXACT [NCIT:C7225]
synonym: "ALK-positive large B-cell lymphoma" EXACT [NCIT:C7225]
synonym: "diffuse large B-cell lymphoma with expression of full-length ALK" EXACT [NCIT:C7225]
synonym: "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase" EXACT [NCIT:C7225]
xref: ICD10:C83.3 {source="Orphanet:364043", source="ORDO:364043/ntbt"}
xref: ICDO:9737/3 {source="NCIT:C7225"}
xref: NCIT:C7225 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:364043 {source="MONDO:equivalentTo"}
xref: SCTID:715950008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333294 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7225"}
is_a: MONDO:0018905 {source="NCIT:C7225", source="Orphanet:364043"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://identifiers.org/snomedct/715950008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333294
property_value: exactMatch NCIT:C7225
property_value: exactMatch Orphanet:364043

[Term]
id: MONDO:0018226
name: infantile epileptic-dyskinetic encephalopathy
def: "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." [Orphanet:364063]
subset: ordo_disease {source="Orphanet:364063"}
xref: ICD10:G40.4 {source="ORDO:364063/attributed", source="ORDO:364063/ntbt", source="Orphanet:364063"}
xref: Orphanet:364063 {source="MONDO:equivalentTo"}
is_a: MONDO:0018329 {source="Orphanet:364063"} ! persistent combined dystonia
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:364063"} ! ARX-related epileptic encephalopathy
property_value: exactMatch Orphanet:364063

[Term]
id: MONDO:0018227
name: hypocomplementemic urticarial vasculitis
def: "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." [Orphanet:36412]
subset: gard_rare {source="GARD:0006725"}
subset: ordo_disease {source="Orphanet:36412"}
synonym: "anti-C1q vasculitis" EXACT [Orphanet:36412]
synonym: "Mac Duffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412]
synonym: "Mac Duffie syndrome" EXACT [Orphanet:36412]
synonym: "McDuffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412]
synonym: "McDuffie syndrome" EXACT [Orphanet:36412]
xref: GARD:0006725 {source="MONDO:equivalentTo"}
xref: ICD10:M31.8 {source="ORDO:36412/ntbt", source="Orphanet:36412"}
xref: Orphanet:36412 {source="MONDO:equivalentTo"}
xref: SCTID:239945009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0343206 {source="GARD:0006725", source="MONDO:equivalentTo"}
xref: UMLS:CN204757 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015491 {source="Orphanet:36412"} ! immune complex mediated vasculitis
is_a: MONDO:0019724 {source="Orphanet:36412"} ! secondary glomerular disease
property_value: exactMatch http://identifiers.org/snomedct/239945009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204757
property_value: exactMatch Orphanet:36412
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis xsd:anyURI {source="GARD:0006725"}

[Term]
id: MONDO:0018228
name: bipartite talus
def: "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." [Orphanet:364198]
subset: ordo_morphological_anomaly {source="Orphanet:364198"}
xref: ICD10:Q66.8 {source="Orphanet:364198", source="ORDO:364198/attributed", source="ORDO:364198/ntbt"}
xref: Orphanet:364198 {source="MONDO:equivalentTo"}
xref: SCTID:763128009 {source="MONDO:equivalentTo"}
xref: UMLS:CN227287 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:364198"} ! non-syndromic limb malformation
is_a: MONDO:0018455 {source="Orphanet:364198"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/snomedct/763128009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227287
property_value: exactMatch Orphanet:364198

[Term]
id: MONDO:0018229
name: Stevens-Johnson syndrome
def: "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." [Orphanet:36426]
subset: ordo_clinical_subtype {source="Orphanet:36426"}
synonym: "Dermatostomatitis, Stevens Johnson type" EXACT [Orphanet:36426]
synonym: "erythema multiforme Major" EXACT [NCIT:C79484]
synonym: "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" RELATED [OMIM:608579]
synonym: "severe cutaneous adverse reaction, susceptibility to" RELATED [OMIM:608579]
synonym: "Stevens Johnson syndrome" EXACT [NCIT:C79484]
synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [OMIM:608579]
synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579]
xref: COHD:141651 {source="MONDO:equivalentTo"}
xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"}
xref: EFO:0004276 {source="MONDO:equivalentTo", source="DOID:0050426"}
xref: GARD:0007700 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L51.1 {source="Orphanet:36426", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/ntbt"}
xref: ICD10:L51.2 {source="DOID:0050426"}
xref: ICD9:695.12 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:695.13 {source="EFO:0004276", source="MONDO:equivalentTo", source="i2s", source="DOID:0050426"}
xref: ICD9:695.15 {source="MONDO:subClassOf", source="DOID:0050426"}
xref: MedDRA:10042033 {source="Orphanet:36426", source="ORDO:36426/e"}
xref: MESH:D013262 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/e"}
xref: NCIT:C79484 {source="EFO:0004276", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050426"}
xref: OMIM:608579 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="ORDO:36426/ntbt"}
xref: Orphanet:36426 {source="OMIM:608579", source="MONDO:equivalentTo"}
xref: SCTID:73442001 {source="EFO:0004276", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.40", source="DOID:0050426"}
xref: UMLS:C0038325 {source="Orphanet:36426", source="NCIT:C79484", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0018229", source="NCIT:C79484"} ! syndromic disease
is_a: MONDO:0005594 {source="EFO:0004276"} ! severe cutaneous adverse reaction
is_a: MONDO:0019810 {source="Orphanet:36426"} ! toxic epidermal necrolysis
property_value: closeMatch http://identifiers.org/snomedct/156362004
property_value: closeMatch http://identifiers.org/snomedct/200919006
property_value: closeMatch http://identifiers.org/snomedct/238819008
property_value: closeMatch http://identifiers.org/snomedct/267848009
property_value: closeMatch http://identifiers.org/snomedct/403609001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1274933
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837818
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840548
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608081
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3277286
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3658301
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3658302
property_value: exactMatch DOID:0050426
property_value: exactMatch http://identifiers.org/meddra/10042033
property_value: exactMatch http://identifiers.org/mesh/D013262
property_value: exactMatch http://identifiers.org/omim/608579
property_value: exactMatch http://identifiers.org/snomedct/73442001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038325
property_value: exactMatch NCIT:C79484
property_value: exactMatch Orphanet:36426

[Term]
id: MONDO:0018230
name: primary bone dysplasia
comment: Editor note: ORDO has these as genetic, but some forms may not be genetic - check this
subset: ordo_group_of_disorders {source="Orphanet:364526"}
synonym: "primary osteodysplasia" EXACT [Orphanet:364526]
synonym: "primary skeletal dysplasia" EXACT [Orphanet:364526]
xref: Orphanet:364526 {source="MONDO:equivalentTo"}
is_a: MONDO:0005497 {source="Orphanet:364526"} ! bone development disease
relationship: excluded_subClassOf MONDO:0015958 {source="Orphanet:364526"} ! obsolete rare genetic bone disease
relationship: excluded_subClassOf MONDO:0018457 {source="Orphanet:364526"} ! rare genetic bone development disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015328"} ! rare
property_value: exactMatch Orphanet:364526

[Term]
id: MONDO:0018231
name: primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
subset: ordo_group_of_disorders {source="Orphanet:364531"}
synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531]
synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531]
xref: Orphanet:364531 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:364531"} ! primary bone dysplasia
property_value: exactMatch Orphanet:364531

[Term]
id: MONDO:0018232
name: primary bone dysplasia with micromelia
subset: ordo_group_of_disorders {source="Orphanet:364536"}
synonym: "primary osteodysplasia with micromelia" EXACT [Orphanet:364536]
synonym: "primary skeletal dysplasia with micromelia" EXACT [Orphanet:364536]
xref: Orphanet:364536 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:364536"} ! primary bone dysplasia
property_value: exactMatch Orphanet:364536

[Term]
id: MONDO:0018233
name: otopalatodigital syndrome spectrum disorder
def: "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia (see this term) and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects (see these terms)." [Orphanet:364541]
subset: ordo_group_of_disorders {source="Orphanet:364541"}
synonym: "OPD spectrum disorder" EXACT [Orphanet:364541]
synonym: "OPSD" EXACT [Orphanet:364541]
xref: Orphanet:364541 {source="MONDO:equivalentTo"}
xref: UMLS:C2748918 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:364541", source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:364541"} ! primary bone dysplasia
is_a: MONDO:0019690 {source="Orphanet:364541"} ! filamin-related bone disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2748918
property_value: exactMatch Orphanet:364541

[Term]
id: MONDO:0018234
name: dysostosis
def: "A disorder of the development of bone in which ossification is affected." [https://en.wikipedia.org/wiki/Dysostosis, MONDO:DesignPattern, NCIT:C34560]
subset: ordo_group_of_disorders {source="Orphanet:364559"}
synonym: "dysostosis" EXACT [NCIT:C34560]
xref: DOID:1934 {source="MONDO:equivalentTo"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004413 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:1934"}
xref: NCIT:C34560 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1934"}
xref: Orphanet:364559 {source="MONDO:equivalentTo"}
xref: SCTID:109420003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1934"}
xref: UMLS:C0013393 {source="NCIT:C34560", source="MONDO:equivalentTo", source="Orphanet:364559", source="DOID:1934"}
is_a: MONDO:0005497 {source="DOID:1934", source="MONDO:Redundant", source="Orphanet:364559", source="indirect", source="linkedlifedata/inferred"} ! bone development disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015328", source="MONDO:0019684"} ! rare
property_value: exactMatch DOID:1934
property_value: exactMatch http://identifiers.org/mesh/D004413
property_value: exactMatch http://identifiers.org/snomedct/109420003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013393
property_value: exactMatch NCIT:C34560
property_value: exactMatch Orphanet:364559

[Term]
id: MONDO:0018235
name: dysostosis with limb anomaly as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:364568"}
xref: Orphanet:364568 {source="MONDO:equivalentTo"}
is_a: MONDO:0018234 {source="MONDO:Redundant", source="Orphanet:364568"} ! dysostosis
property_value: exactMatch Orphanet:364568
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018236
name: dysostosis with limb and face anomalies as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:364571"}
xref: Orphanet:364571 {source="MONDO:equivalentTo"}
is_a: MONDO:0018455 {source="Orphanet:364571"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch Orphanet:364571
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018237
name: acrofacial dysostosis
subset: ordo_group_of_disorders {source="Orphanet:364574"}
xref: DOID:0060379 {source="MONDO:equivalentTo"}
xref: NCIT:C35795 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:364574 {source="MONDO:equivalentTo"}
xref: UMLS:C1332140 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35795"}
is_a: MONDO:0018236 {source="Orphanet:364574"} ! dysostosis with limb and face anomalies as a major feature
is_a: MONDO:0019066 {source="Orphanet:364574"} ! syndrome with brachydactyly
property_value: exactMatch DOID:0060379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332140
property_value: exactMatch NCIT:C35795
property_value: exactMatch Orphanet:364574

[Term]
id: MONDO:0018238
name: rare bone disease related to a common gene or pathway defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:364803"}
xref: Orphanet:364803 {source="MONDO:equivalentTo"}
xref: UMLS:CN204768 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="Orphanet:364803"} ! bone disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015958"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204768
property_value: exactMatch Orphanet:364803
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018239
name: aggrecan-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:364817"}
xref: Orphanet:364817 {source="MONDO:equivalentTo"}
xref: UMLS:CN227289 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:364817"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227289
property_value: exactMatch Orphanet:364817

[Term]
id: MONDO:0018240
name: TRPV4-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:364820"}
xref: Orphanet:364820 {source="MONDO:equivalentTo"}
xref: UMLS:CN227290 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:364820"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227290
property_value: exactMatch Orphanet:364820

[Term]
id: MONDO:0018241
name: primary short bowel syndrome
subset: ordo_group_of_disorders {source="Orphanet:365563"}
xref: ICD10:Q41.0 {source="Orphanet:365563", source="ORDO:365563/attributed", source="ORDO:365563/ntbt"}
xref: Orphanet:365563 {source="MONDO:equivalentTo"}
xref: UMLS:CN204780 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015183 {source="Orphanet:365563"} ! short bowel syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204780
property_value: exactMatch Orphanet:365563

[Term]
id: MONDO:0018242
name: autoimmune hypoparathyroidism (disease)
def: "An autoimmune form of hypoparathyroidism." [MONDO:patterns/autoimmune]
subset: ordo_disease {source="Orphanet:36913"}
synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous]
xref: HP:0011771 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E20.8 {source="Orphanet:36913", source="ORDO:36913/ntbt"}
xref: Orphanet:36913 {source="MONDO:equivalentTo"}
xref: SCTID:75316000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0271865 {source="MEDGEN:kboom-pr97-c98", source="ORDO:36913/e", source="Orphanet:36913", source="MONDO:equivalentTo"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0001220 {source="Orphanet:36913"} ! hypoparathyroidism
relationship: has_modifier MONDO:0021136 {source="MONDO:0015896"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/75316000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271865
property_value: exactMatch Orphanet:36913

[Term]
id: MONDO:0018243
name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome
subset: ordo_disease {source="Orphanet:369847"}
xref: ICD10:G71.0 {source="MONDO:relatedTo", source="ORDO:369847/attributed", source="ORDO:369847/ntbt", source="Orphanet:369847"}
xref: Orphanet:369847 {source="MONDO:equivalentTo"}
xref: UMLS:CN204803 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:369847"} ! syndromic intellectual disability
is_a: MONDO:0005395 {source="MONDO:Redundant", source="Orphanet:369847"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015957", source="MONDO:0015983", source="MONDO:0017645"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204803
property_value: exactMatch Orphanet:369847

[Term]
id: MONDO:0018244
name: obesity due to SIM1 deficiency
subset: ordo_disease {source="Orphanet:369873"}
xref: ICD10:E66.8 {source="Orphanet:369873", source="ORDO:369873/attributed", source="ORDO:369873/ntbt"}
xref: Orphanet:369873 {source="MONDO:equivalentTo"}
is_a: MONDO:0020075 {source="Orphanet:369873"} ! genetic non-syndromic obesity
property_value: exactMatch Orphanet:369873

[Term]
id: MONDO:0018245
name: 2p21 microdeletion syndrome without cystinuria
def: "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." [Orphanet:369881]
subset: ordo_malformation_syndrome {source="Orphanet:369881"}
synonym: "Del(2)(p21) without cystinuria" EXACT [Orphanet:369881]
xref: ICD10:Q93.5 {source="Orphanet:369881", source="ORDO:369881/attributed", source="ORDO:369881/ntbt"}
xref: Orphanet:369881 {source="MONDO:equivalentTo"}
xref: UMLS:CN204807 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018246 {source="Orphanet:369881"} ! homozygous 2p21 microdeletion syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204807
property_value: exactMatch Orphanet:369881

[Term]
id: MONDO:0018246
name: homozygous 2p21 microdeletion syndrome
subset: ordo_group_of_disorders {source="Orphanet:369886"}
synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886]
xref: ICD10:Q93.5 {source="Orphanet:369886", source="ORDO:369886/attributed", source="ORDO:369886/ntbt"}
xref: Orphanet:369886 {source="MONDO:equivalentTo"}
xref: UMLS:CN204808 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016884 {source="Orphanet:369886"} ! partial deletion of the short arm of chromosome 2
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204808
property_value: exactMatch Orphanet:369886

[Term]
id: MONDO:0018247
name: CADDS
subset: ordo_disease {source="Orphanet:369942"}
synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942]
synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942]
xref: GARD:0012472 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="Orphanet:369942", source="ORDO:369942/attributed", source="ORDO:369942/ntbt"}
xref: Orphanet:369942 {source="MONDO:equivalentTo"}
xref: UMLS:CN180200 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:369942"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019046 {source="Orphanet:369942"} ! leukodystrophy
is_a: MONDO:0019053 {source="Orphanet:369942"} ! peroxisomal disease
is_a: MONDO:0019058 {source="Orphanet:369942"} ! neurometabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN180200
property_value: exactMatch Orphanet:369942

[Term]
id: MONDO:0018248
name: intellectual disability-seizures-macrocephaly-obesity syndrome
def: "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." [Orphanet:369950]
subset: ordo_disease {source="Orphanet:369950"}
synonym: "Der(8)t(8;12)" EXACT [Orphanet:369950]
xref: ICD10:Q87.8 {source="Orphanet:369950", source="ORDO:369950/attributed", source="ORDO:369950/ntbt"}
xref: Orphanet:369950 {source="MONDO:equivalentTo"}
xref: UMLS:CN204818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369950", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:369950"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016565 {source="Orphanet:369950"} ! syndromic genetic obesity
is_a: MONDO:0016998 {source="Orphanet:369950"} ! complex chromosomal rearrangement
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204818
property_value: exactMatch Orphanet:369950

[Term]
id: MONDO:0018249
name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
subset: ordo_malformation_syndrome {source="Orphanet:369979"}
xref: ICD10:Q87.2 {source="ORDO:369979/attributed", source="ORDO:369979/ntbt", source="Orphanet:369979"}
xref: Orphanet:369979 {source="MONDO:equivalentTo"}
xref: UMLS:CN204822 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:369979"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204822
property_value: exactMatch Orphanet:369979

[Term]
id: MONDO:0018250
name: diffuse palmoplantar keratoderma with painful fissures
subset: ordo_disease {source="Orphanet:369999"}
xref: ICD10:Q82.8 {source="Orphanet:369999", source="ORDO:369999/attributed", source="ORDO:369999/ntbt"}
xref: Orphanet:369999 {source="MONDO:equivalentTo"}
xref: UMLS:CN204824 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020093 {source="Orphanet:369999"} ! autosomal dominant isolated diffuse palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204824
property_value: exactMatch Orphanet:369999

[Term]
id: MONDO:0018251
name: glycogen storage disease due to phosphorylase kinase deficiency
def: "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." [Orphanet:370]
subset: ordo_group_of_disorders {source="Orphanet:370"}
synonym: "glycogen storage disease due to PhK deficiency" EXACT [Orphanet:370]
synonym: "glycogen storage disease IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogen storage disease type IX" EXACT [DOID:0050594, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:3, Orphanet:370]
synonym: "glycogenosis due to phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogenosis type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogenosis type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "GSD due to phosphorylase kinase deficiency" EXACT [Orphanet:370]
synonym: "GSD IX" EXACT [https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD type 9" EXACT [Orphanet:370]
synonym: "GSD type IX" EXACT [Orphanet:370]
synonym: "GSDIX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370]
synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662]
xref: DOID:0050594 {source="MONDO:equivalentTo"}
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:370/ntbt", source="Orphanet:370", source="ORDO:370/inclusion"}
xref: MESH:C580130 {source="MONDO:equivalentTo"}
xref: NCIT:C122662 {source="MONDO:equivalentTo"}
xref: Orphanet:370 {source="MONDO:equivalentTo"}
xref: SCTID:235908005 {source="MONDO:equivalentTo"}
xref: SCTID:40191005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268147 {source="ORDO:370/e", source="MONDO:equivalentTo", source="NCIT:C122662", source="Orphanet:370"}
is_a: MONDO:0002412 {source="DOID:0050594", source="DOID:0050594/inferred", source="NCIT:C122662", source="Orphanet:370", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0050594
property_value: exactMatch http://identifiers.org/mesh/C580130
property_value: exactMatch http://identifiers.org/snomedct/235908005
property_value: exactMatch http://identifiers.org/snomedct/40191005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268147
property_value: exactMatch NCIT:C122662
property_value: exactMatch Orphanet:370

[Term]
id: MONDO:0018252
name: focal palmoplantar keratoderma with joint keratoses
subset: ordo_disease {source="Orphanet:370002"}
xref: ICD10:Q82.8 {source="ORDO:370002/attributed", source="ORDO:370002/ntbt", source="Orphanet:370002"}
xref: Orphanet:370002 {source="MONDO:equivalentTo"}
xref: UMLS:CN204827 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017673 {source="Orphanet:370002"} ! isolated focal palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204827
property_value: exactMatch Orphanet:370002

[Term]
id: MONDO:0018253
name: intellectual disability-facial dysmorphism-hand anomalies syndrome
subset: ordo_malformation_syndrome {source="Orphanet:370010"}
xref: ICD10:Q87.0 {source="Orphanet:370010", source="ORDO:370010/attributed", source="ORDO:370010/ntbt"}
xref: Orphanet:370010 {source="MONDO:equivalentTo"}
xref: UMLS:CN204829 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:370010", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:370010"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204829
property_value: exactMatch Orphanet:370010

[Term]
id: MONDO:0018254
name: spondyloepimetaphyseal dysplasia, Isidor type
subset: ordo_disease {source="Orphanet:370015"}
xref: ICD10:Q77.8 {source="ORDO:370015/attributed", source="ORDO:370015/ntbt", source="Orphanet:370015"}
xref: Orphanet:370015 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:370015"} ! spondyloepiphyseal dysplasia
property_value: exactMatch Orphanet:370015

[Term]
id: MONDO:0018255
name: spondylometaphyseal dysplasia, Czarny-Ratajczak type
subset: ordo_disease {source="Orphanet:370019"}
xref: ICD10:Q77.8 {source="ORDO:370019/attributed", source="ORDO:370019/ntbt", source="Orphanet:370019"}
xref: Orphanet:370019 {source="MONDO:equivalentTo"}
is_a: MONDO:0016763 {source="MONDOLEX:0018255", source="Orphanet:370019"} ! spondylometaphyseal dysplasia
property_value: exactMatch Orphanet:370019

[Term]
id: MONDO:0018256
name: acute myeloid leukemia with t(8;16)(p11;p13) translocation
def: "or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." [Orphanet:370026]
subset: ordo_disease {source="Orphanet:370026"}
synonym: "AML with t(8;16)(p11;p13) translocation" EXACT [Orphanet:370026]
xref: ICD10:C92.0 {source="ORDO:370026/ntbt", source="Orphanet:370026"}
xref: Orphanet:370026 {source="MONDO:equivalentTo"}
xref: SCTID:725390002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511003 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN204831 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020078 {source="Orphanet:370026"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch http://identifiers.org/snomedct/725390002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204831
property_value: exactMatch Orphanet:370026

[Term]
id: MONDO:0018257
name: familial syringomyelia
def: "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_clinical_subtype {source="Orphanet:370034"}
synonym: "hereditary syringomyelia" EXACT [MONDO:patterns/hereditary]
xref: ICD10:Q06.4 {source="ORDO:370034/attributed", source="ORDO:370034/ntbt", source="Orphanet:370034"}
xref: Orphanet:370034 {source="MONDO:equivalentTo"}
xref: UMLS:CN204832 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020508 {source="Orphanet:370034"} ! primary syringomyelia
intersection_of: MONDO:0017987 ! syringomyelia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204832
property_value: exactMatch Orphanet:370034

[Term]
id: MONDO:0018258
name: Angora hair nevus
subset: ordo_disease {source="Orphanet:370039"}
synonym: "Schauder syndrome" EXACT [Orphanet:370039]
xref: ICD10:Q82.5 {source="ORDO:370039/ntbt", source="Orphanet:370039"}
xref: Orphanet:370039 {source="MONDO:equivalentTo"}
xref: UMLS:CN204833 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:370039"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204833
property_value: exactMatch Orphanet:370039

[Term]
id: MONDO:0018259
name: didymosis aplasticosebacea
subset: ordo_disease {source="Orphanet:370046"}
synonym: "aplasia cutis congenita-nevus sebaceus syndrome" EXACT [Orphanet:370046]
xref: ICD10:Q84.8 {source="ORDO:370046/ntbt", source="Orphanet:370046"}
xref: Orphanet:370046 {source="MONDO:equivalentTo"}
xref: UMLS:CN204834 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:370046"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204834
property_value: exactMatch Orphanet:370046

[Term]
id: MONDO:0018260
name: scalp syndrome
subset: ordo_disease {source="Orphanet:370052"}
synonym: "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052]
synonym: "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052]
xref: ICD10:Q84.8 {source="Orphanet:370052", source="ORDO:370052/ntbt"}
xref: Orphanet:370052 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="Orphanet:370052"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch Orphanet:370052

[Term]
id: MONDO:0018261
name: Nevada syndrome
def: "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." [Orphanet:370059]
subset: ordo_disease {source="Orphanet:370059"}
synonym: "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" EXACT [Orphanet:370059]
xref: ICD10:Q84.8 {source="ORDO:370059/ntbt", source="Orphanet:370059"}
xref: Orphanet:370059 {source="MONDO:equivalentTo"}
xref: UMLS:CN204836 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005073 {source="Orphanet:370059"} ! melanocytic nevus
relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204836
property_value: exactMatch Orphanet:370059

[Term]
id: MONDO:0018262
name: fetal anticonvulsant syndrome
subset: ordo_group_of_disorders {source="Orphanet:370068"}
synonym: "FACS" EXACT [Orphanet:370068]
synonym: "fetal AEDS" EXACT [Orphanet:370068]
synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068]
xref: ICD10:Q86.8 {source="ORDO:370068/ntbt", source="Orphanet:370068"}
xref: Orphanet:370068 {source="MONDO:equivalentTo"}
xref: UMLS:C1739111 {source="MONDO:equivalentTo", source="Orphanet:370068"}
is_a: MONDO:0016677 {source="Orphanet:370068"} ! toxic or drug-related embryofetopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1739111
property_value: exactMatch Orphanet:370068

[Term]
id: MONDO:0018263
name: fetal carbamazepine syndrome
def: "exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." [Orphanet:370076]
subset: ordo_disease {source="Orphanet:370076"}
xref: ICD10:Q86.8 {source="Orphanet:370076", source="ORDO:370076/ntbt"}
xref: ICD9:760.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:370076 {source="MONDO:equivalentTo"}
xref: SCTID:254249002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0432370 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018262 {source="Orphanet:370076"} ! fetal anticonvulsant syndrome
property_value: exactMatch http://identifiers.org/snomedct/254249002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204839
property_value: exactMatch Orphanet:370076

[Term]
id: MONDO:0018264
name: oculocutaneous albinism type 6
def: "gene (15q21.1)." [Orphanet:370097]
subset: ordo_disease {source="Orphanet:370097"}
synonym: "albinism, oculocutaneous, type VI; OCA6" RELATED [OMIM:113750]
synonym: "OCA6" EXACT [OMIM:113750, Orphanet:370097]
synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750]
synonym: "skin/hair/eye pigmentation, variation In, 4" RELATED [OMIM:113750]
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:370097", source="ORDO:370097/attributed", source="ORDO:370097/ntbt"}
xref: OMIM:113750 {source="Orphanet:370097", source="MONDO:equivalentTo", source="ORDO:370097/ntbt"}
xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"}
xref: SCTID:722058005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3805375 {source="MONDO:equivalentTo", source="OMIM:113750"}
is_a: MONDO:0018910 {source="OMIM:113750", source="Orphanet:370097", source="linkedlifedata"} ! oculocutaneous albinism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676042
property_value: exactMatch http://identifiers.org/omim/113750
property_value: exactMatch http://identifiers.org/snomedct/722058005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3805375
property_value: exactMatch Orphanet:370097

[Term]
id: MONDO:0018265
name: rare disorder with dystonia and other neurologic or systemic manifestation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:370106"}
xref: Orphanet:370106 {source="MONDO:equivalentTo"}
xref: UMLS:CN227296 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044807 {source="Orphanet:370106"} ! inherited dystonia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227296
property_value: exactMatch Orphanet:370106
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018266
name: ataxia - telangiectasia variant
def: "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." [Orphanet:370109]
subset: ordo_disease {source="Orphanet:370109"}
synonym: "v-AT" EXACT [Orphanet:370109]
xref: ICD10:G11.3 {source="Orphanet:370109", source="ORDO:370109/attributed", source="ORDO:370109/ntbt"}
xref: Orphanet:370109 {source="MONDO:equivalentTo"}
xref: UMLS:C1876175 {source="Orphanet:370109", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018329 {source="Orphanet:370109"} ! persistent combined dystonia
relationship: disease_shares_features_of MONDO:0008840 {source="https://github.com/monarch-initiative/mondo-build/issues/42"} ! ataxia telangiectasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1876175
property_value: exactMatch Orphanet:370109

[Term]
id: MONDO:0018267
name: combined cervical dystonia
subset: ordo_disease {source="Orphanet:370114"}
xref: ICD10:G24.3 {source="ORDO:370114/attributed", source="ORDO:370114/ntbt", source="Orphanet:370114"}
xref: Orphanet:370114 {source="MONDO:equivalentTo"}
is_a: MONDO:0018329 {source="Orphanet:370114"} ! persistent combined dystonia
property_value: exactMatch Orphanet:370114

[Term]
id: MONDO:0018268
name: Medich giant platelet syndrome
def: "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." [Orphanet:370127]
subset: ordo_disease {source="Orphanet:370127"}
synonym: "Medich macrothrombocytopenia" EXACT [Orphanet:370127]
xref: ICD10:D69.1 {source="ORDO:370127/attributed", source="ORDO:370127/ntbt", source="Orphanet:370127"}
xref: Orphanet:370127 {source="MONDO:equivalentTo"}
xref: SCTID:718554005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4305375 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204847 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020117 {source="Orphanet:370127"} ! alpha granule disease
property_value: exactMatch http://identifiers.org/snomedct/718554005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204847
property_value: exactMatch Orphanet:370127

[Term]
id: MONDO:0018269
name: white platelet syndrome
def: "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." [Orphanet:370131]
comment: Editor note: check relationship to platelet granule deficiency disorder
subset: gard_rare {source="GARD:0009282"}
subset: ordo_disease {source="Orphanet:370131"}
synonym: "platelet granule deficiency disorder" RELATED [GARD:0009282]
xref: GARD:0009282 {source="MONDO:equivalentTo"}
xref: ICD10:D69.1 {source="Orphanet:370131", source="ORDO:370131/attributed", source="ORDO:370131/ntbt"}
xref: MESH:C536702 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:370131 {source="MONDO:equivalentTo"}
xref: SCTID:718553004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2931293 {source="Orphanet:370131", source="MONDO:equivalentTo"}
is_a: MONDO:0020117 {source="Orphanet:370131"} ! alpha granule disease
property_value: exactMatch http://identifiers.org/mesh/C536702
property_value: exactMatch http://identifiers.org/snomedct/718553004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931293
property_value: exactMatch Orphanet:370131
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome xsd:anyURI {source="GARD:0009282"}

[Term]
id: MONDO:0018270
name: extraskeletal Ewing sarcoma
def: "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." [NCIT:C7135]
subset: ordo_disease {source="Orphanet:370334"}
synonym: "EOE" EXACT [NCIT:C7135, Orphanet:370334]
synonym: "Extra-osseous Ewing's sarcoma" EXACT [NCIT:C7135]
synonym: "extraosseous Ewing sarcoma" EXACT [DOID:4232, NCIT:C7135, Orphanet:370334]
synonym: "extraosseous Ewing tumor" EXACT [Orphanet:370334]
synonym: "extraosseous Ewing's sarcoma" EXACT [MONDO:0002925, NCIT:C7135]
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT EXCLUDE [DOID:4232]
synonym: "extraosseous Ewing's tumor" EXACT [NCIT:C7135]
synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135]
synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334]
synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135]
xref: DOID:4232 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:370334/ntbt", source="Orphanet:370334"}
xref: NCIT:C7135 {source="MONDO:equivalentTo"}
xref: Orphanet:370334 {source="MONDO:equivalentTo"}
xref: UMLS:C0279980 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7135", source="MONDO:equivalentTo", source="Orphanet:370334"}
xref: UMLS:CN204849 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0012817 {source="DOID:4232", source="MONDOLEX:0018270", source="NCIT:C7135"} ! Ewing sarcoma
is_a: MONDO:0018078 {source="NCIT:C7135", source="Orphanet:370334"} ! soft tissue sarcoma
is_a: MONDO:0021039 {source="MONDOLEX:0018270", source="NCIT:C7135"} ! extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0852530
property_value: exactMatch DOID:4232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204849
property_value: exactMatch NCIT:C7135
property_value: exactMatch Orphanet:370334

[Term]
id: MONDO:0018271
name: peripheral primitive neuroectodermal tumor
def: "A small round cell tumor with neural differentiation arising from the soft tissues or bone." [NCIT:C9341]
subset: ordo_disease {source="Orphanet:370348"}
synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341]
synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341]
synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341]
synonym: "peripheral PNET" EXACT [NCIT:C9341, Orphanet:370348]
synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341]
synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341]
synonym: "PPNET" EXACT [Orphanet:370348]
synonym: "pPNET" EXACT [NCIT:C9341]
xref: ICD10:C71.9 {source="Orphanet:370348", source="ORDO:370348/ntbt"}
xref: ICDO:9364/3 {source="NCIT:C9341"}
xref: NCIT:C9341 {source="MONDO:0021039", source="MONDO:equivalentTo"}
xref: Orphanet:370348 {source="MONDO:equivalentTo"}
xref: UMLS:C0684337 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:370348"}
xref: UMLS:C3489398 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9341"}
is_a: MONDO:0005462 {source="NCIT:C9341"} ! primitive neuroectodermal tumor
is_a: MONDO:0021038 {source="NCIT:C9341"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
is_a: MONDO:0021089 {source="NCIT:C9341"} ! peripheral nervous system cancer
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:370348"} ! bone sarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3489398
property_value: exactMatch NCIT:C9341
property_value: exactMatch Orphanet:370348

[Term]
id: MONDO:0018272
name: obsolete small cell carcinoma of the ovary
def: "A small cell carcinoma that involves the ovary." [MONDO:patterns/location]
synonym: "ovary small cell carcinoma" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0003795

[Term]
id: MONDO:0018273
name: XYLT1-CDG
subset: ordo_disease {source="Orphanet:370930"}
synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849]
xref: ICD10:E77.8 {source="ORDO:370930/attributed", source="ORDO:370930/ntbt", source="Orphanet:370930"}
xref: Orphanet:370930 {source="MONDO:equivalentTo"}
xref: UMLS:CN204859 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:370930"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017742 {source="Orphanet:370930"} ! disorder of O-xylosylglycan synthesis
is_a: MONDO:0018286 {source="Orphanet:370930"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018296 {source="Orphanet:370930"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204859
property_value: exactMatch Orphanet:370930

[Term]
id: MONDO:0018274
name: GM3 synthase deficiency
def: "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." [https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency]
subset: ordo_group_of_disorders {source="Orphanet:370933"}
synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "lactosylceramide alpha-2,3-sialyltransferase activity disease" EXACT [MONDO:design_pattern]
synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933]
xref: ICD10:E77.8 {source="ORDO:370933/attributed", source="ORDO:370933/ntbt", source="Orphanet:370933"}
xref: Orphanet:370933 {source="MONDO:equivalentTo"}
xref: SCTID:722762005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.75/1.89"}
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0017748 {source="Orphanet:370933"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018118 {source="Orphanet:370933"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
is_a: MONDO:0018286 {source="Orphanet:370933"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:370933"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018293 {source="Orphanet:370933"} ! congenital disorder of glycosylation with skin involvement
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/snomedct/722762005
property_value: exactMatch Orphanet:370933

[Term]
id: MONDO:0018275
name: salt and pepper syndrome
def: "An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation." [DOID:0060470, PMID:24026681]
subset: ordo_disease {source="Orphanet:370938"}
synonym: "salt & pepper syndrome" EXACT [DOID:0060470]
synonym: "salt-and-pepper syndrome" EXACT [DOID:0060470]
xref: DOID:0060470 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="Orphanet:370938", source="ORDO:370938/attributed", source="ORDO:370938/ntbt"}
xref: Orphanet:370938 {source="MONDO:equivalentTo", source="DOID:0060470"}
xref: UMLS:CN204860 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 {source="DOID:0060470", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018274 {source="Orphanet:370938"} ! GM3 synthase deficiency
is_a: MONDO:0019288 {source="Orphanet:370938"} ! skin pigmentation disease
property_value: exactMatch DOID:0060470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204860
property_value: exactMatch Orphanet:370938

[Term]
id: MONDO:0018276
name: muscular dystrophy-dystroglycanopathy
subset: ordo_group_of_disorders {source="Orphanet:370953"}
synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, ORDO:370953, Orphanet:370953]
synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953]
xref: DOID:0050588 {source="MONDO:equivalentTo"}
xref: GARD:0012584 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="DOID:0050588", source="Orphanet:370953", source="ORDO:370953/attributed", source="ORDO:370953/ntbt"}
xref: Orphanet:370953 {source="DOID:0050588", source="MONDO:equivalentTo"}
xref: UMLS:CN229783 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019950 {source="DOID:0050588", source="MONDOLEX:0018276", source="Orphanet:370953"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0050588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229783
property_value: exactMatch Orphanet:370953

[Term]
id: MONDO:0018277
name: congenital muscular dystrophy with cerebellar involvement
subset: ordo_disease {source="Orphanet:370959"}
synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959]
synonym: "CMD-CRB" EXACT [Orphanet:370959]
xref: ICD10:G71.2 {source="Orphanet:370959", source="ORDO:370959/attributed", source="ORDO:370959/ntbt"}
xref: Orphanet:370959 {source="MONDO:equivalentTo"}
is_a: MONDO:0017745 {source="Orphanet:370959"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018276 {source="Orphanet:370959"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018286 {source="Orphanet:370959"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:370959

[Term]
id: MONDO:0018278
name: congenital muscular dystrophy with intellectual disability
subset: ordo_disease {source="Orphanet:370968"}
synonym: "CMD with intellectual disability" EXACT [Orphanet:370968]
synonym: "CMD-MR" EXACT [Orphanet:370968]
xref: ICD10:G71.2 {source="Orphanet:370968", source="ORDO:370968/attributed", source="ORDO:370968/ntbt"}
xref: Orphanet:370968 {source="MONDO:equivalentTo"}
is_a: MONDO:0017745 {source="Orphanet:370968"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018276 {source="Orphanet:370968"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018286 {source="Orphanet:370968"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:370968

[Term]
id: MONDO:0018279
name: congenital muscular dystrophy without intellectual disability
subset: ordo_disease {source="Orphanet:370980"}
synonym: "CMD without intellectual disability" EXACT [Orphanet:370980]
synonym: "CMD-no MR" EXACT [Orphanet:370980]
synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980]
xref: ICD10:G71.2 {source="ORDO:370980/attributed", source="ORDO:370980/ntbt", source="Orphanet:370980"}
xref: Orphanet:370980 {source="MONDO:equivalentTo"}
is_a: MONDO:0017745 {source="Orphanet:370980"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018276 {source="MONDOLEX:0018279", source="Orphanet:370980"} ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018284 {source="Orphanet:370980"} ! congenital disorder of glycosylation with neurological involvement
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:370980

[Term]
id: MONDO:0018280
name: muscle-eye-brain disease with bilateral multicystic leucodystrophy
def: "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." [Orphanet:370997]
subset: ordo_disease {source="Orphanet:370997"}
synonym: "MEB disease with bilateral multicystic leucodystrophy" EXACT [Orphanet:370997]
xref: ICD10:G71.2 {source="Orphanet:370997", source="ORDO:370997/attributed", source="ORDO:370997/ntbt"}
xref: Orphanet:370997 {source="MONDO:equivalentTo"}
is_a: MONDO:0018132 {source="Orphanet:370997"} ! congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
is_a: MONDO:0018283 {source="Orphanet:370997"} ! primary qualitative or quantitative defects of alpha-dystroglycan
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:370997

[Term]
id: MONDO:0018281
name: congenital muscular dystrophy with hyperlaxity
def: "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." [Orphanet:371007]
subset: ordo_disease {source="Orphanet:371007"}
synonym: "CMDH" EXACT [Orphanet:371007]
xref: ICD10:G71.2 {source="ORDO:371007/attributed", source="ORDO:371007/ntbt", source="Orphanet:371007"}
xref: Orphanet:371007 {source="MONDO:equivalentTo"}
xref: SCTID:763314009 {source="MONDO:equivalentTo"}
is_a: MONDO:0019950 {source="MONDOLEX:0018281", source="Orphanet:371007"} ! congenital muscular dystrophy
property_value: exactMatch http://identifiers.org/snomedct/763314009
property_value: exactMatch Orphanet:371007

[Term]
id: MONDO:0018282
name: qualitative or quantitative defects of alpha-dystroglycan
subset: ordo_group_of_disorders {source="Orphanet:371024"}
synonym: "Alpha-dystroglycanopathy" EXACT [Orphanet:371024]
synonym: "dystroglycanopathy" EXACT [Orphanet:371024]
xref: ICD10:G71.2 {source="ORDO:371024/attributed", source="ORDO:371024/ntbt", source="Orphanet:371024"}
xref: Orphanet:371024 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:371024"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936406
property_value: exactMatch Orphanet:371024

[Term]
id: MONDO:0018283
name: primary qualitative or quantitative defects of alpha-dystroglycan
subset: ordo_group_of_disorders {source="Orphanet:371040"}
synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040]
synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040]
xref: ICD10:G71.2 {source="Orphanet:371040", source="ORDO:371040/attributed", source="ORDO:371040/ntbt"}
xref: Orphanet:371040 {source="MONDO:equivalentTo"}
is_a: MONDO:0018282 {source="Orphanet:371040"} ! qualitative or quantitative defects of alpha-dystroglycan
property_value: exactMatch Orphanet:371040

[Term]
id: MONDO:0018284
name: congenital disorder of glycosylation with neurological involvement
subset: ordo_group_of_disorders {source="Orphanet:371047"}
synonym: "CDG with neurological involvement" EXACT [Orphanet:371047]
xref: ICD10:E77.8 {source="ORDO:371047/attributed", source="ORDO:371047/ntbt", source="Orphanet:371047"}
xref: Orphanet:371047 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="MONDO:cjm", source="MONDOLEX:0018284"} ! congenital disorder of glycosylation
is_a: MONDO:0019058 {source="Orphanet:371047"} ! neurometabolic disease
property_value: exactMatch Orphanet:371047

[Term]
id: MONDO:0018285
name: X-linked congenital disorder of glycosylation with intellectual disability as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371054"}
synonym: "X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371054]
xref: ICD10:E77.8 {source="Orphanet:371054", source="ORDO:371054/attributed", source="ORDO:371054/ntbt"}
xref: Orphanet:371054 {source="MONDO:equivalentTo"}
is_a: MONDO:0015920 {source="Orphanet:371054"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0018284 {source="Orphanet:371054"} ! congenital disorder of glycosylation with neurological involvement
property_value: exactMatch Orphanet:371054
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018286
name: non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371064"}
synonym: "non-X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371064]
xref: ICD10:E77.8 {source="Orphanet:371064", source="ORDO:371064/attributed", source="ORDO:371064/ntbt"}
xref: Orphanet:371064 {source="MONDO:equivalentTo"}
is_a: MONDO:0015919 {source="Orphanet:371064"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0018284 {source="Orphanet:371064"} ! congenital disorder of glycosylation with neurological involvement
property_value: exactMatch Orphanet:371064
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018287
name: congenital disorder of glycosylation with epilepsy as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371071"}
synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071]
xref: ICD10:E77.8 {source="ORDO:371071/attributed", source="ORDO:371071/ntbt", source="Orphanet:371071"}
xref: Orphanet:371071 {source="MONDO:equivalentTo"}
is_a: MONDO:0015656 {source="MONDO:Redundant", source="Orphanet:371071"} ! metabolic disease with epilepsy
is_a: MONDO:0018284 {source="Orphanet:371071"} ! congenital disorder of glycosylation with neurological involvement
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: disease_has_major_feature MONDO:0005027 ! epilepsy
property_value: exactMatch Orphanet:371071
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018288
name: congenital disorder of glycosylation with hepatic involvement
subset: ordo_group_of_disorders {source="Orphanet:371157"}
synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157]
xref: ICD10:E77.8 {source="ORDO:371157/attributed", source="ORDO:371157/ntbt", source="Orphanet:371157"}
xref: Orphanet:371157 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch Orphanet:371157

[Term]
id: MONDO:0018289
name: congenital disorder of glycosylation with dilated cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:371176"}
synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176]
xref: ICD10:E77.8 {source="Orphanet:371176", source="ORDO:371176/attributed", source="ORDO:371176/ntbt"}
xref: Orphanet:371176 {source="MONDO:equivalentTo"}
is_a: MONDO:0016333 {source="Orphanet:371176"} ! familial dilated cardiomyopathy
is_a: MONDO:0018290 ! congenital disorder of glycosylation with cardiac malformation as a major feature
property_value: exactMatch Orphanet:371176

[Term]
id: MONDO:0018290
name: congenital disorder of glycosylation with cardiac malformation as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371183"}
synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183]
xref: ICD10:E77.8 {source="Orphanet:371183", source="ORDO:371183/attributed", source="ORDO:371183/ntbt"}
xref: Orphanet:371183 {source="MONDO:equivalentTo"}
is_a: MONDO:0015506 {source="Orphanet:371183"} ! rare syndrome with cardiac malformations
is_a: MONDO:0018296 {source="Orphanet:371183"} ! congenital disorder of glycosylation with developmental anomaly
property_value: exactMatch Orphanet:371183
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018291
name: congenital disorder of glycosylation with intestinal involvement
subset: ordo_group_of_disorders {source="Orphanet:371188"}
synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188]
xref: ICD10:E77.8 {source="ORDO:371188/attributed", source="ORDO:371188/ntbt", source="Orphanet:371188"}
xref: Orphanet:371188 {source="MONDO:equivalentTo"}
is_a: MONDO:0015188 {source="Orphanet:371188"} ! metabolic disease with intestinal involvement
is_a: MONDO:0015286 ! congenital disorder of glycosylation
property_value: exactMatch Orphanet:371188

[Term]
id: MONDO:0018292
name: congenital disorder of glycosylation-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:371195"}
synonym: "CDG-related bone disorder" EXACT [Orphanet:371195]
xref: ICD10:E77.8 {source="Orphanet:371195", source="ORDO:371195/attributed", source="ORDO:371195/ntbt"}
xref: Orphanet:371195 {source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:371195"} ! rare bone disease related to a common gene or pathway defect
is_a: MONDO:0018296 {source="Orphanet:371195"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch Orphanet:371195

[Term]
id: MONDO:0018293
name: congenital disorder of glycosylation with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:371200"}
synonym: "CDG with skin involvement" EXACT [Orphanet:371200]
xref: ICD10:E77.8 {source="ORDO:371200/attributed", source="ORDO:371200/ntbt", source="Orphanet:371200"}
xref: Orphanet:371200 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0019301 {source="Orphanet:371200"} ! metabolic disease with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch Orphanet:371200

[Term]
id: MONDO:0018294
name: congenital disorder of glycosylation with nephropathy as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371207"}
synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207]
xref: ICD10:E77.8 {source="ORDO:371207/attributed", source="ORDO:371207/ntbt", source="Orphanet:371207"}
xref: Orphanet:371207 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0019743 {source="Orphanet:371207"} ! nephropathy secondary to a storage or other metabolic disease
property_value: exactMatch Orphanet:371207
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018295
name: congenital disorder of glycosylation with deafness as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:371212"}
synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212]
xref: ICD10:E77.8 {source="ORDO:371212/attributed", source="ORDO:371212/ntbt", source="Orphanet:371212"}
xref: Orphanet:371212 {source="MONDO:equivalentTo"}
is_a: MONDO:0018296 {source="Orphanet:371212"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0019589 {source="Orphanet:371212"} ! syndromic genetic deafness
property_value: exactMatch Orphanet:371212
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018296
name: congenital disorder of glycosylation with developmental anomaly
subset: gard_rare {source="GARD:0012782"}
subset: ordo_group_of_disorders {source="Orphanet:371235"}
synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235]
xref: GARD:0012782 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="ORDO:371235/attributed", source="ORDO:371235/ntbt", source="Orphanet:371235"}
xref: Orphanet:371235 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="MONDO:cjm", source="MONDOLEX:0018296"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 {source="Orphanet:371235"} ! developmental anomaly of metabolic origin
property_value: exactMatch Orphanet:371235
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly xsd:anyURI {source="GARD:0012782"}

[Term]
id: MONDO:0018297
name: hypotonia-speech impairment-severe cognitive delay syndrome
def: "Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." [Orphanet:371364]
subset: ordo_disease {source="Orphanet:371364"}
synonym: "IHPRF syndrome" EXACT [Orphanet:371364]
synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364]
xref: ICD10:Q87.8 {source="ORDO:371364/attributed", source="ORDO:371364/ntbt", source="Orphanet:371364"}
xref: Orphanet:371364 {source="MONDO:equivalentTo"}
xref: UMLS:CN204877 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:371364", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:371364"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:371364"} ! inherited neurodegenerative disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204877
property_value: exactMatch Orphanet:371364

[Term]
id: MONDO:0018298
name: multicentric osteolysis-nodulosis-arthropathy spectrum
def: "Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." [Orphanet:371428]
subset: ordo_disease {source="Orphanet:371428"}
synonym: "mona spectrum" EXACT [Orphanet:371428]
xref: ICD10:Q85.9 {source="ORDO:371428/attributed", source="ORDO:371428/ntbt", source="Orphanet:371428"}
xref: Orphanet:371428 {source="MONDO:equivalentTo"}
xref: SCTID:716868003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:CN227313 {source="MONDO:equivalentTo"}
is_a: MONDO:0019707 {source="Orphanet:371428"} ! primary osteolysis
property_value: exactMatch http://identifiers.org/snomedct/716868003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227313
property_value: exactMatch Orphanet:371428

[Term]
id: MONDO:0018299
name: sphingolipidosis with epilepsy
subset: ordo_group_of_disorders {source="Orphanet:371442"}
xref: Orphanet:371442 {source="MONDO:equivalentTo"}
is_a: MONDO:0016397 {source="Orphanet:371442"} ! lysosomal disease with epilepsy
is_a: MONDO:0019255 ! sphingolipidosis
property_value: exactMatch Orphanet:371442

[Term]
id: MONDO:0018300
name: obsolete genetic hyperaldosteronism
is_obsolete: true
replaced_by: MONDO:0016525

[Term]
id: MONDO:0018301
name: interstitial cystitis
def: "Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." [Orphanet:37202]
subset: ordo_disease {source="Orphanet:37202"}
synonym: "bladder pain syndrome" EXACT [Orphanet:37202]
synonym: "chronic interstitial cystitis" EXACT [MONDO:0006703]
synonym: "IC/BPS" EXACT [Orphanet:37202]
synonym: "IC/PBS" EXACT [Orphanet:37202]
synonym: "interstitial cystitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "interstitial cystitis/bladder pain syndrome" EXACT [Orphanet:37202]
synonym: "interstitial cystitis/painful bladder syndrome" EXACT [Orphanet:37202]
synonym: "painful bladder syndrome" EXACT [Orphanet:37202]
synonym: "ulcerative cystitis" EXACT [DOID:13949]
xref: COHD:75863 {source="MONDO:equivalentTo"}
xref: DOID:13949 {source="MONDO:equivalentTo"}
xref: DOID:1678 {source="MONDO:equivalentTo", source="EFO:1000869"}
xref: EFO:1000869 {source="MONDO:equivalentTo"}
xref: ICD10:N30.1 {source="DOID:1678", source="ORDO:37202/e", source="Orphanet:37202"}
xref: ICD9:595.1 {source="MONDO:equivalentTo", source="DOID:1678", source="i2s", source="EFO:1000869"}
xref: MedDRA:10008927 {source="EFO:1000869"}
xref: MedDRA:10011796 {source="ORDO:37202/e", source="Orphanet:37202"}
xref: MESH:D018856 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="ORDO:37202/e", source="Orphanet:37202", source="EFO:1000869"}
xref: NCIT:C27189 {source="MONDO:cjm", source="DOID:13949", source="MONDO:equivalentTo"}
xref: Orphanet:37202 {source="MONDO:equivalentTo"}
xref: SCTID:111409009 {source="DOID:13949", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.77"}
xref: SCTID:197834003 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="EFO:1000869", source="MONDO:kboom-pr-0.94/0.83/0.77"}
xref: UMLS:C0282488 {source="NCIT:C27189", source="DOID:13949", source="MONDO:equivalentTo", source="ORDO:37202/e", source="Orphanet:37202"}
xref: UMLS:C0600040 {source="MONDO:equivalentTo", source="DOID:1678", source="MEDGEN:kboom-pr93-c94", source="Orphanet:37202"}
xref: UMLS:C1720830 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94", source="Orphanet:37202"}
xref: UMLS:CN204884 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003900 {source="DOID:1678", source="linkedlifedata"} ! connective tissue disease
is_a: MONDO:0006030 {source="DOID:1678", source="EFO:1000869", source="MONDOLEX:0018301", source="NCIT:C27189", source="linkedlifedata"} ! chronic cystitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015106"} ! rare
property_value: closeMatch http://identifiers.org/meddra/10008927
property_value: closeMatch http://identifiers.org/snomedct/197838000
property_value: closeMatch http://identifiers.org/snomedct/44497007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160917
property_value: exactMatch DOID:13949
property_value: exactMatch DOID:1678
property_value: exactMatch http://identifiers.org/meddra/10011796
property_value: exactMatch http://identifiers.org/mesh/D018856
property_value: exactMatch http://identifiers.org/snomedct/111409009
property_value: exactMatch http://identifiers.org/snomedct/197834003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600040
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204884
property_value: exactMatch NCIT:C27189
property_value: exactMatch Orphanet:37202

[Term]
id: MONDO:0018302
name: acquired kinky hair syndrome
def: "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." [Orphanet:37559]
subset: ordo_disease {source="Orphanet:37559"}
xref: ICD10:L67.8 {source="Orphanet:37559", source="ORDO:37559/ntbt"}
xref: Orphanet:37559 {source="MONDO:equivalentTo"}
xref: UMLS:CN204889 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019546 {source="Orphanet:37559"} ! other acquired skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204889
property_value: exactMatch Orphanet:37559

[Term]
id: MONDO:0018303
name: generalized isolated dystonia
comment: Editor note: consider merging with generalized dystonia if no complex forms
subset: ordo_group_of_disorders {source="Orphanet:376724"}
xref: ICD10:G24.1 {source="ORDO:376724/attributed", source="ORDO:376724/ntbt", source="Orphanet:376724"}
xref: Orphanet:376724 {source="MONDO:equivalentTo"}
is_a: MONDO:0000476 {source="MONDO:Redundant", source="MONDO:cjm"} ! generalized dystonia
is_a: MONDO:0015494 {source="MONDO:Redundant", source="Orphanet:376724"} ! isolated dystonia
intersection_of: MONDO:0000476 ! generalized dystonia
intersection_of: MONDO:0015494 ! isolated dystonia
property_value: exactMatch Orphanet:376724

[Term]
id: MONDO:0018304
name: Schnitzler syndrome
def: "Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." [Orphanet:37748]
subset: gard_rare {source="GARD:0012390"}
subset: ordo_malformation_syndrome {source="Orphanet:37748"}
synonym: "chronic urticaria with gammapathy" RELATED [GARD:0012390]
synonym: "chronic urticaria with gammopathy" EXACT [Orphanet:37748]
synonym: "chronic urticaria with macroglobulinemia" EXACT [Orphanet:37748]
xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"}
xref: EFO:1001165 {source="MONDO:equivalentTo"}
xref: GARD:0012390 {source="MONDO:equivalentTo"}
xref: ICD10:L50.8 {source="Orphanet:37748", source="ORDO:37748/ntbt"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10062908 {source="ORDO:37748/e", source="Orphanet:37748"}
xref: MESH:D019873 {source="ORDO:37748/e", source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4371"}
xref: Orphanet:37748 {source="MONDO:equivalentTo"}
xref: SCTID:402415001 {source="EFO:1001165", source="MONDO:equivalentTo", source="DOID:4371", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0524988 {source="ORDO:37748/e", source="Orphanet:37748", source="MONDO:equivalentTo", source="DOID:4371"}
is_a: MONDO:0002459 {source="DOID:4371"} ! type IV hypersensitivity disease
is_a: MONDO:0015158 {source="Orphanet:37748"} ! unexplained periodic fever syndrome
is_a: MONDO:0025513 ! autoimmune urticaria
property_value: exactMatch DOID:4371
property_value: exactMatch http://identifiers.org/meddra/10062908
property_value: exactMatch http://identifiers.org/mesh/D019873
property_value: exactMatch http://identifiers.org/snomedct/402415001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0524988
property_value: exactMatch Orphanet:37748
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome xsd:anyURI {source="GARD:0012390"}

[Term]
id: MONDO:0018305
name: chronic granulomatous disease
def: "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." [Orphanet:379]
subset: gard_rare {source="GARD:0006100"}
subset: ordo_disease {source="Orphanet:379"}
synonym: "Bridges-Good syndrome" EXACT [DOID:3265]
synonym: "CGD" EXACT [DOID:3265, NCIT:C26788, Orphanet:379]
synonym: "chronic septic granulomatosis" EXACT [Orphanet:379]
synonym: "congenital dysphagocytosis" EXACT [DOID:3265, MTHICD9_2006:288.1]
synonym: "granulomatous disease, chronic" RELATED [GARD:0006100]
synonym: "Quie syndrome" EXACT [DOID:3265]
xref: DOID:3265 {source="MONDO:equivalentTo"}
xref: GARD:0006100 {source="MONDO:equivalentTo"}
xref: ICD10:D71 {source="DOID:3265", source="Orphanet:379", source="ORDO:379/inclusion", source="ORDO:379/ntbt"}
xref: MedDRA:10008906 {source="Orphanet:379", source="ORDO:379/e"}
xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="ORDO:379/e"}
xref: NCIT:C26788 {source="DOID:3265", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.78/1.05"}
xref: OMIMPS:306400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:379 {source="DOID:3265", source="MONDO:equivalentTo"}
xref: SCTID:387759001 {source="DOID:3265", source="MONDO:kboom-pr-1.00/0.91/27.05", source="MONDO:equivalentTo"}
xref: UMLS:C0018203 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="NCIT:C26788", source="ORDO:379/e"}
is_a: MONDO:0005265 {source="Orphanet:379"} ! inflammatory bowel disease
is_a: MONDO:0005910 {source="DOID:3265", source="MESH:D006105"} ! phagocyte bactericidal dysfunction
is_a: MONDO:0015181 ! congenital intestinal disease due to an enzymatic defect
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0015978 {source="Orphanet:379"} ! functional neutrophil defect
is_a: MONDO:0017023 {source="Orphanet:379"} ! secondary interstitial lung disease specific to childhood associated with a granulomatous disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017259 {source="Orphanet:379"} ! systemic diseases with anterior uveitis
is_a: MONDO:0017260 {source="Orphanet:379"} ! systemic diseases with posterior uveitis
is_a: MONDO:0017261 {source="Orphanet:379"} ! systemic diseases with panuveitis
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019305 {source="Orphanet:379"} ! immune deficiency with skin involvement
is_a: MONDO:0021166 {source="linkedlifedata"} ! inflammatory disease
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: closeMatch http://identifiers.org/snomedct/11210002
property_value: closeMatch http://identifiers.org/snomedct/191352003
property_value: closeMatch http://identifiers.org/snomedct/191354002
property_value: exactMatch DOID:3265
property_value: exactMatch http://identifiers.org/meddra/10008906
property_value: exactMatch http://identifiers.org/mesh/D006105
property_value: exactMatch http://identifiers.org/snomedct/387759001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018203
property_value: exactMatch NCIT:C26788
property_value: exactMatch Orphanet:379
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease xsd:anyURI {source="GARD:0006100"}

[Term]
id: MONDO:0018306
name: Griscelli syndrome
def: "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." [Orphanet:381]
subset: gard_rare {source="GARD:0010913"}
subset: ordo_disease {source="Orphanet:381"}
synonym: "ChC)diak-Higashi-like syndrome" EXACT [Orphanet:381]
synonym: "Chédiak-Higashi-like syndrome" EXACT [DOID:0060831]
synonym: "Ch��diak-Higashi-like syndrome" EXACT [DOID:0060831]
synonym: "Griscelli disease" RELATED [GARD:0010913]
synonym: "Griscelli-PruniC)ras syndrome" EXACT [Orphanet:381]
synonym: "Griscelli-Pruniéras syndrome" EXACT [DOID:0060831]
synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831]
synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381]
xref: DC:0000356 {source="MONDO:equivalentTo"}
xref: DOID:0060831 {source="MONDO:equivalentTo"}
xref: GARD:0010913 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="ORDO:381/attributed", source="ORDO:381/ntbt", source="Orphanet:381"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:214450 {source="DOID:0060831", source="MONDO:equivalentTo"}
xref: Orphanet:381 {source="DOID:0060831", source="MONDO:equivalentTo"}
xref: SCTID:37548006 {source="MONDO:kboom-pr-0.99/0.73/5.47", source="MONDO:equivalentTo"}
xref: UMLS:CN204933 {source="MONDO:equivalentTo"}
is_a: MONDO:0017305 {source="Orphanet:381"} ! syndromic oculocutaneous albinism
property_value: exactMatch DOID:0060831
property_value: exactMatch http://identifiers.org/snomedct/37548006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204933
property_value: exactMatch Orphanet:381
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome xsd:anyURI {source="GARD:0010913"}

[Term]
id: MONDO:0018307
name: neurodegeneration with brain iron accumulation
def: "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." [Orphanet:385]
comment: Editor note: check relationship to PKAN
subset: ordo_group_of_disorders {source="Orphanet:385"}
synonym: "NBIA" EXACT [DOID:0110734, Orphanet:385]
xref: DC:0000320 {source="MONDO:equivalentTo"}
xref: DOID:0110734 {source="MONDO:equivalentTo"}
xref: GARD:0011899 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G23.0 {source="DOID:0110734", source="ORDO:385/attributed", source="ORDO:385/ntbt", source="Orphanet:385"}
xref: MESH:C538421 {source="DOID:0110734", source="MONDO:equivalentTo", source="ORDO:385/e", source="Orphanet:385"}
xref: OMIMPS:234200 {source="DOID:0110734", source="DC:0000320", source="MONDO:equivalentTo"}
xref: Orphanet:385 {source="DOID:0110734", source="MONDO:equivalentTo"}
is_a: MONDO:0002279 {source="MESH:C538421"} ! iron metabolism disease
is_a: MONDO:0002283 {source="MESH:C538421"} ! neuroaxonal dystrophy
is_a: MONDO:0017662 {source="Orphanet:385"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019058 {source="Orphanet:385"} ! neurometabolic disease
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:385"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch DOID:0110734
property_value: exactMatch http://identifiers.org/mesh/C538421
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931845
property_value: exactMatch Orphanet:385

[Term]
id: MONDO:0018308
name: liver mesenchymal hamartoma
def: "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." [NCIT:C5751]
comment: Editor note: in NCIT this is classified as non-neoplastic
subset: gard_rare {source="GARD:0002651"}
subset: ordo_disease {source="Orphanet:386"}
synonym: "biliary hamartoma" EXACT [Orphanet:386]
synonym: "hepatic cystic hamartoma" RELATED [Orphanet:386]
synonym: "hepatic mesenchymal hamartoma" EXACT [NCIT:C5751]
synonym: "liver mesenchymal hamartoma" EXACT [MONDO:patterns/location, NCIT:C5751]
synonym: "liver MH" EXACT [NCIT:C5751]
synonym: "mesenchymal hamartoma of liver" EXACT [NCIT:C5751, Orphanet:386]
synonym: "mesenchymal hamartoma of the liver" EXACT [NCIT:C5751]
synonym: "MHL" EXACT [Orphanet:386]
synonym: "VMC" EXACT [Orphanet:386]
synonym: "Von Meyenburg complexes disease" EXACT [Orphanet:386]
xref: GARD:0002651 {source="MONDO:equivalentTo"}
xref: ICD10:D13.4 {source="ORDO:386/btnt", source="Orphanet:386"}
xref: NCIT:C5751 {source="MONDO:equivalentTo"}
xref: Orphanet:386 {source="MONDO:equivalentTo"}
xref: SCTID:715397000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0334091 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="Orphanet:386"}
xref: UMLS:C1333971 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5751"}
is_a: MONDO:0004721 ! liver neoplasm
is_a: MONDO:0024478 {source="MONDO:Redundant", source="MONDOLEX:0018308", source="NCIT:C5751"} ! mesenchymal hamartoma
relationship: excluded_subClassOf MONDO:0017632 {source="Orphanet:386"} ! obsolete rare tumor of liver and intrahepatic biliary tract
property_value: exactMatch http://identifiers.org/snomedct/715397000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333971
property_value: exactMatch NCIT:C5751
property_value: exactMatch Orphanet:386
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma xsd:anyURI {source="GARD:0002651"}

[Term]
id: MONDO:0018309
name: Hirschsprung disease
def: "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." [Orphanet:388]
subset: ordo_disease {source="Orphanet:388"}
synonym: "aganglionic megacolon" EXACT [DOID:10487, NCIT:C34700, Orphanet:388]
synonym: "congenital intestinal aganglionosis" EXACT [Orphanet:388]
synonym: "congenital megacolon" EXACT [DOID:10487]
synonym: "Hirschsprung disease" EXACT [DOID:10487]
synonym: "Hirschsprung's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "HSCR" EXACT [Orphanet:388]
synonym: "macrocolon" EXACT [DOID:10487]
synonym: "pelvirectal achalasia" EXACT [CSP2005:0724-7702, DOID:10487]
synonym: "total intestinal aganglionosis" EXACT EXCLUDE [DOID:10487]
xref: COHD:194149 {source="MONDO:equivalentTo"}
xref: DOID:10487 {source="MONDO:equivalentTo"}
xref: GARD:0006660 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q43.1 {source="ORDO:388/specific", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"}
xref: MedDRA:10010539 {source="ORDO:388/e", source="Orphanet:388"}
xref: MESH:D006627 {source="MONDO:equivalentTo", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"}
xref: NCIT:C34700 {source="MONDO:kboom-pr-0.87/0.72/0.23", source="MONDO:equivalentTo", source="DOID:10487"}
xref: Orphanet:388 {source="MONDO:equivalentTo", source="DOID:10487"}
xref: UMLS:C0019569 {source="MONDO:equivalentTo", source="NCIT:C34700", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"}
xref: UMLS:C3661523 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:388"}
is_a: MONDO:0021189 {source="Orphanet:388"} ! intestinal motility disease
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
relationship: disease_arises_from_feature MONDO:0001273 ! megacolon
relationship: excluded_subClassOf MONDO:0001273 {source="DOID:10487", source="MESH:D006627"} ! megacolon
relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156957008
property_value: closeMatch http://identifiers.org/snomedct/204738000
property_value: closeMatch http://identifiers.org/snomedct/204739008
property_value: closeMatch http://identifiers.org/snomedct/204742002
property_value: closeMatch http://identifiers.org/snomedct/204744001
property_value: closeMatch http://identifiers.org/snomedct/360436002
property_value: closeMatch http://identifiers.org/snomedct/367495003
property_value: closeMatch http://identifiers.org/snomedct/6687001
property_value: exactMatch DOID:10487
property_value: exactMatch http://identifiers.org/meddra/10010539
property_value: exactMatch http://identifiers.org/mesh/D006627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661523
property_value: exactMatch NCIT:C34700
property_value: exactMatch Orphanet:388

[Term]
id: MONDO:0018310
name: Langerhans cell histiocytosis
def: "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." [Orphanet:389]
comment: We follow NCIT in classifying this as a neoplasm but this may be revisited
subset: ordo_group_of_disorders {source="Orphanet:389"}
synonym: "histiocytosis X" EXACT [DOID:2571, NCIT:C3107, Orphanet:389]
synonym: "Langerhan's cell histiocytosis" EXACT [DOID:2571]
synonym: "Langerhans cell granulomatosis" EXACT [CSP2005:0427-5330, DOID:2571, NCIT:C3107, Orphanet:389]
synonym: "Langerhans cell histiocytosis" EXACT [MONDO:0006263, NCIT:C3107, OMIM:604856]
synonym: "Langerhans cell histiocytosis, NOS" EXACT [NCIT:C3107]
synonym: "Langerhans cell histiocytosis, Not otherwise specified" EXACT [NCIT:C3107]
synonym: "Langerhans-cell histiocytosis" RELATED [DOID:2571]
synonym: "LCH" EXACT [NCIT:C3107]
synonym: "Lch" RELATED [OMIM:604856]
synonym: "letterer-Siwe disease" EXACT EXCLUDE [DOID:2571]
synonym: "letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of head, face and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving spleen" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intrapelvic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intrathoracic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of head, face and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of head, face and/or neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region and lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of multiple sites" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of spleen" EXACT [DOID:2571]
xref: COHD:4278365 {source="MONDO:equivalentTo"}
xref: DOID:2571 {source="MONDO:equivalentTo"}
xref: EFO:1000318 {source="MONDO:equivalentTo"}
xref: GARD:0006858 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:C96.0 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"}
xref: ICD10:C96.5 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"}
xref: ICD10:C96.6 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"}
xref: ICD9:202.5 {source="DOID:2571"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9751/1 {source="NCIT:C3107"}
xref: ICDO:9751/3 {source="NCIT:C3107"}
xref: ICDO:9752/1 {source="NCIT:C3107"}
xref: ICDO:9753/1 {source="NCIT:C3107"}
xref: ICDO:9754/3 {source="NCIT:C3107"}
xref: MedDRA:10069698 {source="Orphanet:389", source="ORDO:389/e"}
xref: NCIT:C3107 {source="DOID:2571", source="MONDO:kboom-pr-0.88/0.75/0.14", source="MONDO:equivalentTo", source="EFO:1000318"}
xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:389/e"}
xref: ONCOTREE:LCH {source="MONDO:equivalentTo"}
xref: Orphanet:389 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:604856"}
xref: SCTID:65399007 {source="DOID:2571", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.75/2.44"}
xref: UMLS:C0019621 {source="DOID:2571", source="Orphanet:389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604856", source="NCIT:C3107", source="ORDO:389/e"}
xref: UMLS:C0432547 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0432548 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0432549 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0432550 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0432551 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0432552 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0432553 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0432554 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002637 {source="DOID:2571", source="ONCOTREE:LCH"} ! histiocytosis
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0015938 {source="Orphanet:389"} ! systemic disease
is_a: MONDO:0020082 {source="Orphanet:389"} ! dendritic cell tumor
relationship: excluded_subClassOf MONDO:0002332 {source="DOID:2571"} ! splenic disease
property_value: closeMatch http://identifiers.org/snomedct/110450007
property_value: closeMatch http://identifiers.org/snomedct/118614007
property_value: closeMatch http://identifiers.org/snomedct/128809007
property_value: closeMatch http://identifiers.org/snomedct/128811003
property_value: closeMatch http://identifiers.org/snomedct/128812005
property_value: closeMatch http://identifiers.org/snomedct/154583006
property_value: closeMatch http://identifiers.org/snomedct/154773005
property_value: closeMatch http://identifiers.org/snomedct/188654004
property_value: closeMatch http://identifiers.org/snomedct/188655003
property_value: closeMatch http://identifiers.org/snomedct/188659009
property_value: closeMatch http://identifiers.org/snomedct/190955000
property_value: closeMatch http://identifiers.org/snomedct/190956004
property_value: closeMatch http://identifiers.org/snomedct/190960001
property_value: closeMatch http://identifiers.org/snomedct/234439008
property_value: closeMatch http://identifiers.org/snomedct/236957004
property_value: closeMatch http://identifiers.org/snomedct/267510005
property_value: closeMatch http://identifiers.org/snomedct/269628007
property_value: closeMatch http://identifiers.org/snomedct/366059005
property_value: closeMatch http://identifiers.org/snomedct/67574008
property_value: exactMatch DOID:2571
property_value: exactMatch http://identifiers.org/meddra/10069698
property_value: exactMatch http://identifiers.org/mesh/D006646
property_value: exactMatch http://identifiers.org/omim/604856
property_value: exactMatch http://identifiers.org/snomedct/65399007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019621
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432548
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432549
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432550
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432551
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432552
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432554
property_value: exactMatch NCIT:C3107
property_value: exactMatch Orphanet:389

[Term]
id: MONDO:0018311
name: acromelanosis
def: "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." [Orphanet:39]
subset: gard_rare {source="GARD:0004500"}
subset: ordo_disease {source="Orphanet:39"}
synonym: "progressive acromelanosis" RELATED [GARD:0004500]
xref: GARD:0004500 {source="MONDO:equivalentTo"}
xref: ICD10:L81.4 {source="ORDO:39/ntbt", source="Orphanet:39"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:39 {source="MONDO:equivalentTo"}
xref: SCTID:239089006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0019289 {source="Orphanet:39", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin
property_value: exactMatch http://identifiers.org/snomedct/239089006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406779
property_value: exactMatch Orphanet:39
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4500/acromelanosis xsd:anyURI {source="GARD:0004500"}

[Term]
id: MONDO:0018312
name: histoplasmosis
def: "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." [NCIT:C77201]
subset: ordo_disease {source="Orphanet:390"}
synonym: "darling disease" EXACT [Orphanet:390]
synonym: "Histoplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma disease or disorder" EXACT []
synonym: "Histoplasma infectious disease" EXACT []
xref: COHD:433134 {source="MONDO:equivalentTo"}
xref: DOID:1731 {source="MONDO:equivalentTo", source="EFO:0007310"}
xref: EFO:0007310 {source="MONDO:equivalentTo"}
xref: ICD10:B39 {source="DOID:1731", source="MONDO:equivalentTo"}
xref: ICD10:B39.0 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.1 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.2 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.3 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.4 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.5 {source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD10:B39.9 {source="DOID:1731", source="Orphanet:390", source="ORDO:390/btnt"}
xref: ICD9:115 {source="DOID:1731"}
xref: ICD9:115.9 {source="DOID:1731"}
xref: ICD9:115.90 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:115.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10020141 {source="ORDO:390/e", source="Orphanet:390"}
xref: MedDRA:10021808 {source="ORDO:390/e", source="Orphanet:390"}
xref: MESH:D006660 {source="ORDO:390/e", source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="MONDO:ontobio", source="EFO:0007310"}
xref: NCIT:C77201 {source="DOID:1731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:390 {source="MONDO:equivalentTo"}
xref: SCTID:12962009 {source="DOID:1731", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0019655 {source="ORDO:390/e", source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="NCIT:C77201"}
is_a: MONDO:0000308 {source="DOID:1731"} ! primary systemic mycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154408001
property_value: closeMatch http://identifiers.org/snomedct/187055002
property_value: closeMatch http://identifiers.org/snomedct/187056001
property_value: closeMatch http://identifiers.org/snomedct/187063001
property_value: closeMatch http://identifiers.org/snomedct/187482000
property_value: closeMatch http://identifiers.org/snomedct/266218008
property_value: closeMatch NCIT:C34977
property_value: exactMatch DOID:1731
property_value: exactMatch http://identifiers.org/meddra/10020141
property_value: exactMatch http://identifiers.org/meddra/10021808
property_value: exactMatch http://identifiers.org/mesh/D006660
property_value: exactMatch http://identifiers.org/snomedct/12962009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019655
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153261
property_value: exactMatch NCIT:C77201
property_value: exactMatch Orphanet:390

[Term]
id: MONDO:0018313
name: obsolete uveal melanoma
is_obsolete: true
replaced_by: MONDO:0006486

[Term]
id: MONDO:0018314
name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
def: "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." [Orphanet:391316]
subset: ordo_disease {source="Orphanet:391316"}
xref: ICD10:G40.2 {source="ORDO:391316/attributed", source="ORDO:391316/ntbt", source="Orphanet:391316"}
xref: Orphanet:391316 {source="MONDO:equivalentTo"}
xref: UMLS:CN204956 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="Orphanet:391316"} ! monogenic epilepsy
is_a: MONDO:0020071 {source="Orphanet:391316"} ! infantile epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204956
property_value: exactMatch Orphanet:391316

[Term]
id: MONDO:0018315
name: X-linked osteoporosis with fractures
subset: ordo_disease {source="Orphanet:391330"}
xref: ICD10:M80.5 {source="ORDO:391330/attributed", source="ORDO:391330/ntbt", source="Orphanet:391330"}
xref: Orphanet:391330 {source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:391330"} ! primary bone dysplasia with decreased bone density
property_value: closeMatch http://identifiers.org/omim/300910
property_value: exactMatch Orphanet:391330

[Term]
id: MONDO:0018316
name: fatal post-viral neurodegenerative disorder
subset: ordo_disease {source="Orphanet:391343"}
xref: ICD10:G04.8 {source="ORDO:391343/attributed", source="ORDO:391343/ntbt", source="Orphanet:391343"}
xref: Orphanet:391343 {source="MONDO:equivalentTo"}
xref: UMLS:CN204961 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015144 {source="Orphanet:391343"} ! brain inflammatory disease
is_a: MONDO:0024237 {source="Orphanet:391343"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204961
property_value: exactMatch Orphanet:391343

[Term]
id: MONDO:0018317
name: growth retardation-mild developmental delay-chronic hepatitis syndrome
subset: ordo_disease {source="Orphanet:391366"}
xref: Orphanet:391366 {source="MONDO:equivalentTo"}
xref: UMLS:CN204964 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015508 {source="Orphanet:391366"} ! genetic parenchymatous liver disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204964
property_value: exactMatch Orphanet:391366

[Term]
id: MONDO:0018318
name: disorder of asparagine metabolism
subset: ordo_group_of_disorders {source="Orphanet:391381"}
xref: Orphanet:391381 {source="MONDO:equivalentTo"}
xref: UMLS:CN227320 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:391381"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227320
property_value: exactMatch Orphanet:391381

[Term]
id: MONDO:0018319
name: familial episodic pain syndrome
subset: gard_rare {source="GARD:0012684"}
subset: ordo_disease {source="Orphanet:391384"}
synonym: "FEPS" EXACT [Orphanet:391384]
xref: GARD:0012684 {source="MONDO:equivalentTo"}
xref: ICD10:M79.6 {source="ORDO:391384/attributed", source="ORDO:391384/ntbt", source="Orphanet:391384"}
xref: OMIMPS:615040 {source="MONDO:equivalentTo", source="DC:0000616"}
xref: Orphanet:391384 {source="MONDO:equivalentTo"}
xref: UMLS:CN204967 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN228162 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0020127 {source="Orphanet:391384"} ! genetic peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204967
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228162
property_value: exactMatch Orphanet:391384
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome xsd:anyURI {source="GARD:0012684"}

[Term]
id: MONDO:0018320
name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
subset: ordo_disease {source="Orphanet:391408"}
xref: ICD10:Q87.8 {source="Orphanet:391408", source="ORDO:391408/attributed", source="ORDO:391408/ntbt"}
xref: Orphanet:391408 {source="MONDO:equivalentTo"}
xref: UMLS:CN204971 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:391408"} ! syndromic intellectual disability
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015887 {source="Orphanet:391408"} ! rare diabetes mellitus type 2
is_a: MONDO:0017119 {source="Orphanet:391408"} ! syndrome with microcephaly as major feature
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204971
property_value: exactMatch Orphanet:391408

[Term]
id: MONDO:0018321
name: atypical juvenile parkinsonism
def: "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." [Orphanet:391411]
subset: ordo_disease {source="Orphanet:391411"}
xref: ICD10:G20 {source="ORDO:391411/attributed", source="ORDO:391411/ntbt", source="Orphanet:391411"}
xref: Orphanet:391411 {source="MONDO:equivalentTo"}
xref: SCTID:725146001 {source="MONDO:equivalentTo"}
xref: UMLS:C4510873 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN204972 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017661 {source="Orphanet:391411"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
property_value: exactMatch http://identifiers.org/snomedct/725146001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204972
property_value: exactMatch Orphanet:391411

[Term]
id: MONDO:0018322
name: HSD10 disease, infantile type
def: "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." [Orphanet:391428]
subset: ordo_clinical_subtype {source="Orphanet:391428"}
synonym: "2-methyl-3-hydroxybutyric aciduria, classic type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyric aciduria, infantile type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type" EXACT [Orphanet:391428]
synonym: "HSD10 deficiency, classic type" EXACT [Orphanet:391428]
synonym: "HSD10 deficiency, infantile type" EXACT [Orphanet:391428]
synonym: "HSD10 disease, classic type" EXACT [Orphanet:391428]
synonym: "MHBD deficiency, classic type" EXACT [Orphanet:391428]
synonym: "MHBD deficiency, infantile type" EXACT [Orphanet:391428]
xref: ICD10:E72.8 {source="Orphanet:391428", source="ORDO:391428/attributed", source="ORDO:391428/ntbt"}
xref: Orphanet:391428 {source="MONDO:equivalentTo"}
xref: UMLS:CN204974 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010327 {source="Orphanet:391428"} ! HSD10 disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204974
property_value: exactMatch Orphanet:391428

[Term]
id: MONDO:0018323
name: HSD10 disease, neonatal type
def: "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." [Orphanet:391457]
subset: ordo_clinical_subtype {source="Orphanet:391457"}
synonym: "2-methyl-3-hydroxybutyric aciduria, neonatal type" EXACT [Orphanet:391457]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type" EXACT [Orphanet:391457]
synonym: "HSD10 deficiency, neonatal type" EXACT [Orphanet:391457]
synonym: "MHBD deficiency, neonatal type" EXACT [Orphanet:391457]
xref: ICD10:E72.8 {source="Orphanet:391457", source="ORDO:391457/attributed", source="ORDO:391457/ntbt"}
xref: Orphanet:391457 {source="MONDO:equivalentTo"}
xref: UMLS:CN204975 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010327 {source="Orphanet:391457"} ! HSD10 disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN204975
property_value: exactMatch Orphanet:391457

[Term]
id: MONDO:0018324
name: adult-onset myasthenia gravis
def: "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term)." [Orphanet:391490]
subset: ordo_clinical_subtype {source="Orphanet:391490"}
synonym: "adult-onset acquired myasthenia" EXACT [Orphanet:391490]
synonym: "adult-onset autoimmune myasthenia gravis" EXACT [Orphanet:391490]
xref: ICD10:G70.0 {source="MONDO:subClassOf", source="Orphanet:391490", source="ORDO:391490/ntbt"}
xref: Orphanet:391490 {source="MONDO:equivalentTo"}
is_a: MONDO:0009688 {source="Orphanet:391490"} ! myasthenia gravis
property_value: exactMatch Orphanet:391490

[Term]
id: MONDO:0018325
name: juvenile myasthenia gravis
def: "Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." [Orphanet:391497]
subset: ordo_clinical_subtype {source="Orphanet:391497"}
synonym: "childhood myasthenia gravis" EXACT [Orphanet:391497]
synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497]
synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497]
synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric myasthenia gravis" RELATED [MONDO:patterns/childhood]
xref: ICD10:G70.0 {source="MONDO:subClassOf", source="ORDO:391497/ntbt", source="Orphanet:391497"}
xref: Orphanet:391497 {source="MONDO:equivalentTo"}
is_a: MONDO:0009688 {source="MONDO:Redundant", source="Orphanet:391497"} ! myasthenia gravis
property_value: exactMatch Orphanet:391497

[Term]
id: MONDO:0018326
name: transient neonatal myasthenia gravis
def: "Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." [Orphanet:391504]
subset: ordo_clinical_subtype {source="Orphanet:391504"}
synonym: "neonatal myasthenia gravis" EXACT [Orphanet:391504]
synonym: "NMG" EXACT [Orphanet:391504]
synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504]
synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504]
xref: ICD10:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="ORDO:391504/e"}
xref: NCIT:C117308 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:391504 {source="MONDO:equivalentTo"}
xref: UMLS:C0495465 {source="Orphanet:391504", source="MONDO:equivalentTo", source="NCIT:C117308"}
is_a: MONDO:0009688 {source="NCIT:C117308", source="Orphanet:391504"} ! myasthenia gravis
is_a: MONDO:0018356 {source="Orphanet:391504"} ! secondary neonatal autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0495465
property_value: exactMatch NCIT:C117308
property_value: exactMatch Orphanet:391504

[Term]
id: MONDO:0018327
name: glomus tumor
def: "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." [NCIT:C3060]
subset: ordo_disease {source="Orphanet:391651"}
synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060]
synonym: "glomus tumor" EXACT [NCIT:C3060]
synonym: "glomus tumour" EXACT [DOID:2431]
xref: DOID:2431 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="ORDO:391651/ntbt", source="Orphanet:391651"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8711/0 {source="NCIT:C3060"}
xref: MESH:D005918 {source="DOID:2431", source="MONDO:equivalentTo"}
xref: NCIT:C3060 {source="DOID:2431", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:391651 {source="MONDO:equivalentTo"}
xref: SCTID:403969002 {source="DOID:2431", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0017653 {source="DOID:2431", source="MONDO:equivalentTo", source="Orphanet:391651", source="NCIT:C3060"}
is_a: MONDO:0002604 {source="DOID:2431/inferred", source="MONDO:Redundant", source="NCIT:C3060"} ! pericytic neoplasm
is_a: MONDO:0006424 {source="Orphanet:391651"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002789 {source="DOID:2431"} ! hemangiopericytic tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/10438002
property_value: closeMatch http://identifiers.org/snomedct/189193002
property_value: closeMatch http://identifiers.org/snomedct/393567008
property_value: exactMatch DOID:2431
property_value: exactMatch http://identifiers.org/mesh/D005918
property_value: exactMatch http://identifiers.org/snomedct/403969002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017653
property_value: exactMatch NCIT:C3060
property_value: exactMatch Orphanet:391651

[Term]
id: MONDO:0018328
name: homozygous familial hypercholesterolemia
subset: ordo_disease {source="Orphanet:391665"}
synonym: "HoFH" EXACT [Orphanet:391665]
xref: ICD10:E78.0 {source="ORDO:391665/attributed", source="ORDO:391665/ntbt", source="Orphanet:391665"}
xref: Orphanet:391665 {source="MONDO:equivalentTo"}
xref: SCTID:238078005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.59"}
is_a: MONDO:0005439 ! familial hypercholesterolemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0018799"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342881
property_value: exactMatch http://identifiers.org/snomedct/238078005
property_value: exactMatch Orphanet:391665

[Term]
id: MONDO:0018329
name: persistent combined dystonia
subset: ordo_group_of_disorders {source="Orphanet:391711"}
xref: ICD10:G24.1 {source="ORDO:391711/attributed", source="ORDO:391711/ntbt", source="Orphanet:391711"}
xref: Orphanet:391711 {source="MONDO:equivalentTo"}
is_a: MONDO:0020065 {source="Orphanet:391711"} ! combined dystonia
property_value: exactMatch Orphanet:391711

[Term]
id: MONDO:0018330
name: mucinous adenocarcinoma of the appendix
def: "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." [Orphanet:391723]
subset: ordo_disease {source="Orphanet:391723"}
synonym: "appendiceal mucinous adenocarcinoma" EXACT [Orphanet:391723]
synonym: "appendix mucinous adenocarcinoma" EXACT [NCIT:C43558]
synonym: "vermiform appendix mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C18.1 {source="ORDO:391723/ntbt", source="Orphanet:391723"}
xref: NCIT:C43558 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MAAP {source="MONDO:equivalentTo"}
xref: Orphanet:391723 {source="MONDO:equivalentTo"}
xref: UMLS:C1706832 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43558", source="Orphanet:391723"}
is_a: MONDO:0005007 ! colon mucinous adenocarcinoma
is_a: MONDO:0006087 {source="MONDO:Redundant", source="MONDOLEX:0018330", source="NCIT:C43558", source="ONCOTREE:MAAP"} ! appendix adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706832
property_value: exactMatch NCIT:C43558
property_value: exactMatch Orphanet:391723

[Term]
id: MONDO:0018331
name: obsolete rare genetic dystonia
is_obsolete: true
replaced_by: MONDO:0044807

[Term]
id: MONDO:0018332
name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
subset: ordo_clinical_subtype {source="Orphanet:394529"}
synonym: "glutaric aciduria type 2, severe neonatal type" EXACT [Orphanet:394529]
synonym: "MAD deficiency, severe neonatal type" EXACT [Orphanet:394529]
synonym: "MADD, severe neonatal type" EXACT [Orphanet:394529]
xref: ICD10:E71.3 {source="Orphanet:394529", source="ORDO:394529/attributed", source="ORDO:394529/ntbt"}
xref: Orphanet:394529 {source="MONDO:equivalentTo"}
xref: UMLS:CN205004 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009282 {source="MONDOLEX:0018332", source="Orphanet:394529"} ! multiple acyl-CoA dehydrogenase deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205004
property_value: exactMatch Orphanet:394529

[Term]
id: MONDO:0018333
name: multiple acyl-CoA dehydrogenase deficiency, mild type
subset: ordo_clinical_subtype {source="Orphanet:394532"}
synonym: "glutaric aciduria type 2, mild type" EXACT [Orphanet:394532]
synonym: "MAD deficiency, mild type" EXACT [Orphanet:394532]
synonym: "MADD, mild type" EXACT [Orphanet:394532]
xref: ICD10:E71.3 {source="ORDO:394532/attributed", source="ORDO:394532/ntbt", source="Orphanet:394532"}
xref: Orphanet:394532 {source="MONDO:equivalentTo"}
xref: UMLS:CN205005 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009282 {source="MONDOLEX:0018333", source="Orphanet:394532"} ! multiple acyl-CoA dehydrogenase deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205005
property_value: exactMatch Orphanet:394532

[Term]
id: MONDO:0018334
name: chronic hiccup
def: "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." [Orphanet:396]
subset: gard_rare
subset: ordo_disease {source="Orphanet:396"}
synonym: "chronic hiccups" RELATED [GARD:0006657]
synonym: "Hiccups, intractable" RELATED [GARD:0006657]
synonym: "intractable hiccups" RELATED [GARD:0006657]
synonym: "intractable singultus" RELATED [GARD:0006657]
synonym: "persistent hiccups" RELATED [GARD:0006657]
xref: GARD:0006657 {source="MONDO:equivalentTo"}
xref: HP:0100247 {source="MONDO:otherHierarchy"}
xref: Orphanet:396 {source="GARD:0006657", source="MONDO:equivalentTo"}
xref: SCTID:716771000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0744898 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205022 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="Orphanet:396"} ! autonomic nervous system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0018497"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716771000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205022
property_value: exactMatch Orphanet:396
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups xsd:anyURI {source="GARD:0006657"}

[Term]
id: MONDO:0018335
name: deep dermatophytosis
subset: ordo_disease {source="Orphanet:397587"}
synonym: "disseminated granulomatous dermatophytosis" EXACT [Orphanet:397587]
xref: ICD10:B35.8 {source="Orphanet:397587", source="ORDO:397587/ntbt"}
xref: Orphanet:397587 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="Orphanet:397587"} ! fungal infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: exactMatch Orphanet:397587

[Term]
id: MONDO:0018336
name: Silver-Russell syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:397590"}
xref: ICD10:Q87.1 {source="Orphanet:397590", source="ORDO:397590/attributed", source="ORDO:397590/ntbt"}
xref: Orphanet:397590 {source="MONDO:equivalentTo"}
xref: UMLS:CN225933 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:397590"} ! Silver-Russell syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225933
property_value: exactMatch Orphanet:397590

[Term]
id: MONDO:0018337
name: severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
subset: ordo_disease {source="Orphanet:397593"}
xref: ICD10:E88.8 {source="Orphanet:397593", source="ORDO:397593/attributed", source="ORDO:397593/ntbt"}
xref: Orphanet:397593 {source="MONDO:equivalentTo"}
is_a: MONDO:0017718 {source="Orphanet:397593"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
property_value: exactMatch Orphanet:397593

[Term]
id: MONDO:0018338
name: activated PI3K-delta syndrome
subset: ordo_disease {source="Orphanet:397596"}
synonym: "APDS" EXACT [Orphanet:397596]
synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [Orphanet:397596]
xref: GARD:0011983 {source="MONDO:equivalentTo"}
xref: ICD10:D81.8 {source="Orphanet:397596", source="ORDO:397596/attributed", source="ORDO:397596/ntbt"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:397596 {source="MONDO:equivalentTo"}
xref: SCTID:711480000 {source="MONDO:kboom-pr-0.93/0.74/1.39", source="MONDO:equivalentTo"}
xref: UMLS:C3714976 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:397596", source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="Orphanet:397596"} ! agammaglobulinemia
property_value: exactMatch http://identifiers.org/snomedct/711480000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714976
property_value: exactMatch Orphanet:397596

[Term]
id: MONDO:0018339
name: PrP systemic amyloidosis
def: "(20p13) leading to deposition of prion protein amyloid." [Orphanet:397606]
subset: ordo_disease {source="Orphanet:397606"}
synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606]
synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606]
synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606]
xref: ICD10:G60.8 {source="Orphanet:397606", source="ORDO:397606/attributed", source="ORDO:397606/ntbt"}
xref: Orphanet:397606 {source="MONDO:equivalentTo"}
xref: SCTID:733422008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518776 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005020 ! intestinal disease
is_a: MONDO:0015365 {source="Orphanet:397606"} ! autosomal dominant hereditary sensory and autonomic neuropathy
is_a: MONDO:0017234 {source="Orphanet:397606"} ! inherited prion disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/snomedct/733422008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518776
property_value: exactMatch Orphanet:397606

[Term]
id: MONDO:0018340
name: hereditary isolated aplastic anemia
subset: ordo_disease {source="Orphanet:397692"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="Orphanet:397692", source="ORDO:397692/inclusion", source="ORDO:397692/ntbt"}
xref: Orphanet:397692 {source="MONDO:equivalentTo"}
is_a: MONDO:0001713 {source="Orphanet:397692"} ! inherited aplastic anemia
property_value: exactMatch Orphanet:397692

[Term]
id: MONDO:0018341
name: 3q27.3 microdeletion syndrome
def: "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." [Orphanet:397695]
subset: ordo_disease {source="Orphanet:397695"}
synonym: "Del(3)(q27.3)" EXACT [Orphanet:397695]
xref: ICD10:Q93.5 {source="Orphanet:397695", source="ORDO:397695/attributed", source="ORDO:397695/ntbt"}
xref: Orphanet:397695 {source="MONDO:equivalentTo"}
xref: UMLS:CN225942 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397695", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:397695"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016902 {source="Orphanet:397695"} ! partial deletion of the long arm of chromosome 3
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225942
property_value: exactMatch Orphanet:397695

[Term]
id: MONDO:0018342
name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
def: "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." [Orphanet:397715]
subset: ordo_malformation_syndrome {source="Orphanet:397715"}
synonym: "JBTS with JATD" EXACT [Orphanet:397715]
synonym: "Joubert syndrome with JATD" EXACT [Orphanet:397715]
xref: ICD10:Q04.3 {source="ORDO:397715/attributed", source="ORDO:397715/ntbt", source="Orphanet:397715"}
xref: Orphanet:397715 {source="MONDO:equivalentTo"}
xref: SCTID:733418003 {source="MONDO:equivalentTo"}
xref: UMLS:C4518774 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN225944 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015369 {source="Orphanet:397715"} ! Joubert syndrome and related disorders
is_a: MONDO:0015461 {source="Orphanet:397715"} ! short rib-polydactyly syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/733418003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225944
property_value: exactMatch Orphanet:397715

[Term]
id: MONDO:0018343
name: periodic paralysis with later-onset distal motor neuropathy
subset: ordo_disease {source="Orphanet:397750"}
xref: ICD10:G72.3 {source="Orphanet:397750", source="ORDO:397750/attributed", source="ORDO:397750/ntbt"}
xref: Orphanet:397750 {source="MONDO:equivalentTo"}
is_a: MONDO:0000995 ! familial periodic paralysis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
is_a: MONDO:0016793 {source="Orphanet:397750"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
property_value: exactMatch Orphanet:397750

[Term]
id: MONDO:0018344
name: periodic paralysis with transient compartment-like syndrome
subset: ordo_disease {source="Orphanet:397755"}
xref: ICD10:G72.3 {source="ORDO:397755/attributed", source="ORDO:397755/ntbt", source="Orphanet:397755"}
xref: Orphanet:397755 {source="MONDO:equivalentTo"}
xref: UMLS:CN226077 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016122 {source="Orphanet:397755"} ! periodic paralysis (disease)
is_a: MONDO:0019119 {source="Orphanet:397755"} ! muscular channelopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226077
property_value: exactMatch Orphanet:397755

[Term]
id: MONDO:0018345
name: obsolete T+ B+ severe combined immunodeficiency
is_obsolete: true
consider: MONDO:0044200
consider: MONDO:0044201

[Term]
id: MONDO:0018346
name: ferro-cerebro-cutaneous syndrome
subset: ordo_disease {source="Orphanet:397922"}
synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922]
xref: ICD10:G23.0 {source="ORDO:397922/attributed", source="ORDO:397922/ntbt", source="Orphanet:397922"}
xref: Orphanet:397922 {source="MONDO:equivalentTo"}
xref: UMLS:CN226080 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:397922"} ! genetic parenchymatous liver disease
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0024237 {source="Orphanet:397922"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226080
property_value: exactMatch Orphanet:397922

[Term]
id: MONDO:0018347
name: severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
subset: ordo_disease {source="Orphanet:397933"}
synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933]
synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933]
xref: ICD10:Q87.8 {source="ORDO:397933/attributed", source="ORDO:397933/ntbt", source="Orphanet:397933"}
xref: Orphanet:397933 {source="MONDO:equivalentTo"}
xref: UMLS:CN226082 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:397933"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226082
property_value: exactMatch Orphanet:397933

[Term]
id: MONDO:0018348
name: polyglucosan body myopathy type 1
subset: ordo_disease {source="Orphanet:397937"}
synonym: "PGBM1" EXACT [Orphanet:397937]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:397937/attributed", source="ORDO:397937/ntbt", source="Orphanet:397937"}
xref: Orphanet:397937 {source="MONDO:equivalentTo"}
is_a: MONDO:0002412 {source="Orphanet:397937"} ! glycogen storage disease
is_a: MONDO:0014389 {source="MONDOLEX:0018348"} ! polyglucosan body myopathy 1 with or without immunodeficiency
is_a: MONDO:0016118 {source="Orphanet:397937"} ! muscular glycogenosis
is_a: MONDO:0016334 {source="Orphanet:397937"} ! neuromuscular disease with dilated cardiomyopathy
is_a: MONDO:0019058 {source="Orphanet:397937"} ! neurometabolic disease
property_value: exactMatch Orphanet:397937

[Term]
id: MONDO:0018349
name: MAN1B1-CDG
def: "(9q34.3)." [Orphanet:397941]
subset: gard_rare {source="GARD:0012417"}
subset: ordo_disease {source="Orphanet:397941"}
synonym: "carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941]
xref: GARD:0012417 {source="MONDO:equivalentTo"}
xref: ICD10:E77.8 {source="ORDO:397941/attributed", source="ORDO:397941/ntbt", source="Orphanet:397941"}
xref: Orphanet:397941 {source="MONDO:equivalentTo"}
xref: SCTID:733450008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518783 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017740 {source="Orphanet:397941"} ! disorder of protein N-glycosylation
is_a: MONDO:0018286 {source="Orphanet:397941"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
property_value: exactMatch http://identifiers.org/snomedct/733450008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518783
property_value: exactMatch Orphanet:397941
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg xsd:anyURI {source="GARD:0012417"}

[Term]
id: MONDO:0018350
name: obsolete malignant tumor of penis
is_obsolete: true
replaced_by: MONDO:0001325

[Term]
id: MONDO:0018351
name: adenocarcinoma of penis
def: "A adenocarcinoma that involves the penis." [MONDO:patterns/location]
comment: Editor note: consider merging with Paget disease of penis
subset: ordo_disease {source="Orphanet:398053"}
synonym: "adenocarcinoma of the penis" RELATED [Orphanet:398053]
synonym: "penile adenocarcinoma" EXACT [NCIT:C27817, Orphanet:398053]
synonym: "penis adenocarcinoma" EXACT [MONDO:patterns/location]
xref: ICD10:C60.0 {source="ORDO:398053/ntbt", source="Orphanet:398053"}
xref: ICD10:C60.1 {source="ORDO:398053/ntbt", source="Orphanet:398053"}
xref: ICD10:C60.2 {source="ORDO:398053/ntbt", source="Orphanet:398053"}
xref: ICD10:C60.8 {source="ORDO:398053/ntbt", source="Orphanet:398053"}
xref: ICD10:C60.9 {source="ORDO:398053/ntbt", source="Orphanet:398053"}
xref: Orphanet:398053 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 ! adenocarcinoma
is_a: MONDO:0006360 ! penile carcinoma
property_value: exactMatch Orphanet:398053

[Term]
id: MONDO:0018352
name: squamous cell carcinoma of penis
def: "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" [NCIT:C7729]
subset: ordo_disease {source="Orphanet:398058"}
synonym: "epidermoid carcinoma of penis" EXACT [NCIT:C7729]
synonym: "epidermoid carcinoma of the penis" EXACT [NCIT:C7729]
synonym: "epidermoid cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729]
synonym: "epidermoid cell carcinoma of the penis" EXACT [NCIT:C7729]
synonym: "penile epidermoid carcinoma" EXACT [NCIT:C7729]
synonym: "penile epidermoid cell carcinoma" EXACT [NCIT:C7729]
synonym: "penile squamous car.(epidermoid)" EXACT [NCIT:C7729]
synonym: "penile squamous carcinoma (epidermoid)" EXACT [NCIT:C7729]
synonym: "penile squamous cell cancer" EXACT [NCIT:C7729]
synonym: "penile squamous cell carcinoma" EXACT [NCIT:C7729, Orphanet:398058]
synonym: "penis squamous cell carcinoma" EXACT [MONDO:0003484, MONDO:patterns/location]
synonym: "PSCC" RELATED [ONCOTREE:PSCC]
synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729]
synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729]
xref: DOID:5518 {source="MONDO:equivalentTo"}
xref: ICD10:C60.0 {source="Orphanet:398058", source="ORDO:398058/ntbt"}
xref: ICD10:C60.1 {source="Orphanet:398058", source="ORDO:398058/ntbt"}
xref: ICD10:C60.2 {source="Orphanet:398058", source="ORDO:398058/ntbt"}
xref: ICD10:C60.8 {source="Orphanet:398058", source="ORDO:398058/ntbt"}
xref: ICD10:C60.9 {source="Orphanet:398058", source="ORDO:398058/ntbt"}
xref: NCIT:C7729 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/11.10", source="DOID:5518"}
xref: ONCOTREE:PSCC {source="MONDO:equivalentTo"}
xref: Orphanet:398058 {source="MONDO:equivalentTo"}
xref: SCTID:403468003 {source="MONDO:equivalentTo", source="DOID:5518"}
xref: UMLS:C0238348 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:398058", source="MONDO:equivalentTo", source="DOID:5518", source="NCIT:C7729"}
is_a: MONDO:0005096 {source="DOID:5518", source="MONDO:Redundant", source="MONDOLEX:0018352", source="NCIT:C7729", source="linkedlifedata/inferred"} ! squamous cell carcinoma
is_a: MONDO:0006360 {source="DOID:5518", source="MONDO:Redundant", source="MONDOLEX:0018352", source="NCIT:C7729"} ! penile carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336081
property_value: closeMatch NCIT:C6979
property_value: exactMatch DOID:5518
property_value: exactMatch http://identifiers.org/snomedct/403468003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238348
property_value: exactMatch NCIT:C7729
property_value: exactMatch Orphanet:398058

[Term]
id: MONDO:0018353
name: refractory celiac disease
def: "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
subset: ordo_disease {source="Orphanet:398063"}
synonym: "intractable celiac sprue" EXACT [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
synonym: "refractory CD" EXACT [Orphanet:398063]
synonym: "refractory sprue" EXACT [Orphanet:398063]
synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
synonym: "type II refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
xref: EFO:0009266 {source="MONDO:equivalentTo"}
xref: ICD10:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063", source="ORDO:398063/ntbt"}
xref: Orphanet:398063 {source="MONDO:equivalentTo"}
xref: UMLS:CN226092 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005020 {source="Orphanet:398063"} ! intestinal disease
relationship: disease_shares_features_of MONDO:0005130 ! celiac disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226092
property_value: exactMatch Orphanet:398063

[Term]
id: MONDO:0018354
name: Prader-Willi-like syndrome
def: "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." [Orphanet:398073]
subset: ordo_disease {source="Orphanet:398073"}
synonym: "PWS-like" EXACT [Orphanet:398073]
xref: ICD10:Q87.1 {source="ORDO:398073/attributed", source="ORDO:398073/ntbt", source="Orphanet:398073"}
xref: Orphanet:398073 {source="MONDO:equivalentTo"}
xref: UMLS:CN226094 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015890 {source="Orphanet:398073"} ! rare disorder with congenital hypogonadotropic hypogonadism
is_a: MONDO:0016565 {source="Orphanet:398073"} ! syndromic genetic obesity
is_a: MONDO:0018398 {source="Orphanet:398073"} ! female infertility due to a congenital hypogonadotropic hypogonadism
is_a: MONDO:0020016 {source="Orphanet:398073"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:398073"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226094
property_value: exactMatch Orphanet:398073

[Term]
id: MONDO:0018355
name: Prader-Willi-like syndrome due to point mutation
subset: ordo_clinical_subtype {source="Orphanet:398079"}
synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED [Orphanet:398079]
synonym: "PWS-like due to a point mutation" EXACT [Orphanet:398079]
synonym: "PWS-like due to point mutation" EXACT [Orphanet:398079]
xref: ICD10:Q87.1 {source="Orphanet:398079", source="ORDO:398079/attributed", source="ORDO:398079/ntbt"}
xref: Orphanet:398079 {source="MONDO:equivalentTo"}
xref: UMLS:CN226095 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018354 {source="Orphanet:398079"} ! Prader-Willi-like syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226095
property_value: exactMatch Orphanet:398079

[Term]
id: MONDO:0018356
name: secondary neonatal autoimmune disease
subset: ordo_group_of_disorders {source="Orphanet:398091"}
synonym: "Transplacentally acquired neonatal autoimmune disease" EXACT [Orphanet:398091]
xref: Orphanet:398091 {source="MONDO:equivalentTo"}
xref: UMLS:CN226097 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015939 {source="Orphanet:398091"} ! systemic autoimmune disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226097
property_value: exactMatch Orphanet:398091

[Term]
id: MONDO:0018357
name: neonatal antiphospholipid syndrome
subset: ordo_disease {source="Orphanet:398097"}
synonym: "neonatal antiphospholipid antibody syndrome" EXACT [Orphanet:398097]
synonym: "neonatal Hughes syndrome" EXACT [Orphanet:398097]
xref: ICD10:D68.6 {source="ORDO:398097/ntbt", source="Orphanet:398097"}
xref: Orphanet:398097 {source="MONDO:equivalentTo"}
xref: UMLS:CN226098 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018356 {source="Orphanet:398097"} ! secondary neonatal autoimmune disease
is_a: MONDO:0021008 ! secondary antiphospholipid syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226098
property_value: exactMatch Orphanet:398097

[Term]
id: MONDO:0018358
name: neonatal autoimmune hemolytic anemia
subset: ordo_disease {source="Orphanet:398109"}
synonym: "neonatal AHA" EXACT [Orphanet:398109]
synonym: "neonatal AIHA" EXACT [Orphanet:398109]
xref: ICD10:D59.1 {source="ORDO:398109/ntbt", source="Orphanet:398109"}
xref: Orphanet:398109 {source="MONDO:equivalentTo"}
is_a: MONDO:0018356 {source="Orphanet:398109"} ! secondary neonatal autoimmune disease
is_a: MONDO:0020108 ! autoimmune hemolytic anemia
property_value: exactMatch Orphanet:398109

[Term]
id: MONDO:0018359
name: neonatal dermatomyositis
subset: ordo_disease {source="Orphanet:398117"}
synonym: "neonatal DM" EXACT [Orphanet:398117]
xref: ICD10:M33.1 {source="ORDO:398117/ntbt", source="Orphanet:398117"}
xref: Orphanet:398117 {source="MONDO:equivalentTo"}
is_a: MONDO:0016367 {source="MONDO:cjm", source="MONDOLEX:0018359"} ! dermatomyositis
is_a: MONDO:0018356 {source="Orphanet:398117"} ! secondary neonatal autoimmune disease
property_value: exactMatch Orphanet:398117

[Term]
id: MONDO:0018360
name: neonatal lupus erythematosus
def: "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." [NCIT:C99236]
subset: ordo_disease {source="Orphanet:398124"}
synonym: "congenital lupus" RELATED [GARD:0009563]
synonym: "congenital lupus erythematosus" RELATED [GARD:0009563]
synonym: "neonatal lupus" RELATED [GARD:0009563]
synonym: "neonatal lupus syndrome" RELATED [GARD:0009563]
synonym: "neonatal SLE" RELATED [GARD:0009563]
synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563]
xref: EFO:0004537 {source="MONDO:equivalentTo"}
xref: GARD:0009563 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:M32.8 {source="Orphanet:398124", source="ORDO:398124/ntbt"}
xref: MESH:C536397 {source="MONDO:equivalentTo"}
xref: NCIT:C99236 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="EFO:0004537"}
xref: Orphanet:398124 {source="MONDO:equivalentTo"}
xref: SCTID:95609003 {source="MONDO:equivalentTo", source="EFO:0004537", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0409979 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:398124", source="MONDO:equivalentTo", source="NCIT:C99236"}
is_a: MONDO:0007915 {source="EFO:0004537", source="NCIT:C99236", source="linkedlifedata"} ! systemic lupus erythematosus (disease)
is_a: MONDO:0018356 {source="Orphanet:398124"} ! secondary neonatal autoimmune disease
property_value: exactMatch http://identifiers.org/mesh/C536397
property_value: exactMatch http://identifiers.org/snomedct/95609003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409979
property_value: exactMatch NCIT:C99236
property_value: exactMatch Orphanet:398124

[Term]
id: MONDO:0018361
name: neonatal scleroderma
subset: ordo_disease {source="Orphanet:398127"}
xref: ICD10:P83.8 {source="ORDO:398127/ntbt", source="Orphanet:398127"}
xref: Orphanet:398127 {source="MONDO:equivalentTo"}
is_a: MONDO:0018356 {source="Orphanet:398127"} ! secondary neonatal autoimmune disease
is_a: MONDO:0019340 {source="MONDO:cjm"} ! scleroderma (disease)
property_value: exactMatch Orphanet:398127

[Term]
id: MONDO:0018362
name: persistent idiopathic facial pain
comment: Editor note: TODO add HPO class
subset: ordo_disease {source="Orphanet:398147"}
synonym: "AFP" EXACT [Orphanet:398147]
synonym: "atypical facial pain" EXACT [Orphanet:398147]
synonym: "PIFP" EXACT [Orphanet:398147]
xref: COHD:137856 {source="MONDO:equivalentTo"}
xref: ICD10:G50.1 {source="ORDO:398147/e", source="Orphanet:398147"}
xref: Orphanet:398147 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="Orphanet:398147"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch Orphanet:398147

[Term]
id: MONDO:0018363
name: focal facial dermal dysplasia
def: "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." [Orphanet:398166]
subset: ordo_malformation_syndrome {source="Orphanet:398166"}
synonym: "FFDD" EXACT [Orphanet:398166]
xref: DC:0000521 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:398166", source="ORDO:398166/attributed", source="ORDO:398166/ntbt"}
xref: OMIMPS:136500 {source="MONDO:equivalentTo", source="DC:0000521"}
xref: Orphanet:398166 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:398166"} ! ectodermal dysplasia syndrome
property_value: exactMatch Orphanet:398166

[Term]
id: MONDO:0018364
name: malignant epithelial tumor of ovary
def: "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." [NCIT:C40026]
comment: Editor note: check inference with carcinoma
subset: ordo_group_of_disorders {source="Orphanet:398934"}
synonym: "epithelial cancer of ovary" EXACT [Orphanet:398934]
synonym: "malignant ovarian epithelial tumor" EXACT [NCIT:C40026]
synonym: "malignant ovarian surface epithelial-stromal neoplasm" EXACT [DOID:2151, https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/167, NCIT:C40026]
synonym: "malignant ovarian surface epithelial-stromal tumor" EXACT [NCIT:C40026]
synonym: "ovarian epithelial cancer" EXACT [Orphanet:398934]
synonym: "ovarian epithelial tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934]
synonym: "ovarian stromal cancer" EXACT [NCIT:C40026]
xref: DOID:2151 {source="MONDO:equivalentTo"}
xref: GARD:0009362 {source="MONDO:equivalentTo"}
xref: MESH:C538090 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C40026 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.65/0.29/0.05", source="DOID:2151"}
xref: Orphanet:398934 {source="MONDO:equivalentTo"}
xref: SCTID:254849005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.39"}
is_a: MONDO:0002229 {source="DOID:2151", source="MONDO:Redundant", source="MONDOLEX:0018364", source="NCIT:C40026", source="linkedlifedata"} ! ovarian epithelial tumor
is_a: MONDO:0004993 ! carcinoma
is_a: MONDO:0008170 {source="DOID:2151/inferred", source="MESH:C538090", source="MONDO:Redundant", source="MONDOLEX:0018364", source="NCIT:C40026", source="Orphanet:398934", source="linkedlifedata"} ! ovarian cancer
disjoint_from: MONDO:0018365 ! malignant non-epithelial tumor of ovary
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677886
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518236
property_value: exactMatch DOID:2151
property_value: exactMatch http://identifiers.org/mesh/C538090
property_value: exactMatch http://identifiers.org/snomedct/254849005
property_value: exactMatch NCIT:C40026
property_value: exactMatch Orphanet:398934

[Term]
id: MONDO:0018365
name: malignant non-epithelial tumor of ovary
comment: Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma
subset: ordo_group_of_disorders {source="Orphanet:398940"}
synonym: "non-epithelial cancer of ovary" EXACT [Orphanet:398940]
synonym: "ovarian malignant non-epithelial tumor" EXACT [Orphanet:398940]
synonym: "ovarian non-epithelial cancer" EXACT [Orphanet:398940]
xref: Orphanet:398940 {source="MONDO:equivalentTo"}
xref: UMLS:CN205032 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008170 {source="MONDOLEX:0018365", source="Orphanet:398940"} ! ovarian cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205032
property_value: exactMatch Orphanet:398940

[Term]
id: MONDO:0018366
name: obsolete mucinous adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0005601

[Term]
id: MONDO:0018367
name: obsolete clear cell adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0006045

[Term]
id: MONDO:0018368
name: primary peritoneal serous/papillary carcinoma
subset: ordo_disease {source="Orphanet:398980"}
synonym: "peritoneal serous papillary adenocarcinoma" EXACT [MONDO:0003817]
synonym: "PPSPC" EXACT [Orphanet:398980]
synonym: "primary peritoneal serous papillary adenocarcinoma" EXACT [NCIT:C7695]
synonym: "primary peritoneal serous papillary carcinoma" EXACT [NCIT:C7695]
synonym: "primary serous papillary carcinoma of peritoneum" EXACT [DOID:6228, NCIT:C7695]
xref: DOID:6228 {source="MONDO:equivalentTo"}
xref: ICD10:C48.0 {source="Orphanet:398980", source="ORDO:398980/ntbt"}
xref: ICD10:C48.1 {source="Orphanet:398980", source="ORDO:398980/ntbt"}
xref: ICD10:C48.2 {source="Orphanet:398980", source="ORDO:398980/ntbt"}
xref: ICD10:C48.8 {source="Orphanet:398980", source="ORDO:398980/ntbt"}
xref: NCIT:C7695 {source="MONDO:kboom-pr-0.92/0.83/0.18", source="DOID:6228", source="MONDO:equivalentTo"}
xref: Orphanet:398980 {source="MONDO:equivalentTo"}
xref: UMLS:C1368918 {source="NCIT:C7695", source="DOID:6228", source="MONDO:equivalentTo"}
xref: UMLS:CN205035 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003195 {source="DOID:6228"} ! peritoneal serous adenocarcinoma
is_a: MONDO:0005211 ! ovarian serous adenocarcinoma
is_a: MONDO:0006386 {source="NCIT:C7695"} ! primary peritoneal serous adenocarcinoma
property_value: closeMatch http://identifiers.org/snomedct/15674004
property_value: exactMatch DOID:6228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1368918
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205035
property_value: exactMatch NCIT:C7695
property_value: exactMatch Orphanet:398980

[Term]
id: MONDO:0018369
name: immature ovarian teratoma
def: "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients." [NCIT:C8111]
subset: ordo_disease {source="Orphanet:398987"}
synonym: "immature germ cell teratoma of ovary" EXACT [NCIT:C8111]
synonym: "immature germ cell teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "immature ovarian teratoma" EXACT [NCIT:C8111]
synonym: "immature teratoma" RELATED [ONCOTREE:OIMT]
synonym: "immature teratoma of ovary" EXACT [MONDO:0003855, NCIT:C8111, Orphanet:398987]
synonym: "immature teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "malignant germ cell teratoma of ovary" EXACT [NCIT:C8111]
synonym: "malignant germ cell teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "malignant ovarian germ cell teratoma" EXACT [NCIT:C8111]
synonym: "malignant ovarian teratoma" EXACT [NCIT:C8111]
synonym: "malignant teratoma of ovary" EXACT [DOID:6331, NCIT:C8111]
synonym: "malignant teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "ovarian germ cell immature teratoma" EXACT [NCIT:C8111]
synonym: "ovarian immature germ cell teratoma" EXACT [NCIT:C8111]
synonym: "ovarian immature teratoma" EXACT [NCIT:C8111, Orphanet:398987]
synonym: "ovarian malignant teratoma" EXACT [Orphanet:398987]
synonym: "ovary malignant teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6331 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:398987/ntbt", source="Orphanet:398987"}
xref: NCIT:C8111 {source="MONDO:equivalentTo", source="DOID:6331"}
xref: ONCOTREE:OIMT {source="MONDO:equivalentTo"}
xref: Orphanet:398987 {source="MONDO:equivalentTo"}
xref: SCTID:254871000 {source="MONDO:kboom-pr-0.89/0.77/0.16", source="MONDO:equivalentTo", source="DOID:6331"}
xref: UMLS:C0346182 {source="NCIT:C8111", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:6331"}
xref: UMLS:CN205036 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003514 {source="DOID:6331", source="MONDO:Redundant", source="MONDOLEX:0018369"} ! malignant teratoma
is_a: MONDO:0003821 {source="NCIT:C8111"} ! ovarian biphasic or triphasic teratoma
is_a: MONDO:0016096 ! malignant non-dysgerminomatous germ cell tumor of ovary
property_value: exactMatch DOID:6331
property_value: exactMatch http://identifiers.org/snomedct/254871000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346182
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205036
property_value: exactMatch NCIT:C8111
property_value: exactMatch Orphanet:398987

[Term]
id: MONDO:0018370
name: KLHL9-related early-onset distal myopathy
def: "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." [Orphanet:399081]
subset: ordo_disease {source="Orphanet:399081"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:399081/attributed", source="ORDO:399081/ntbt", source="Orphanet:399081"}
xref: Orphanet:399081 {source="MONDO:equivalentTo"}
xref: SCTID:763776004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:399081"} ! autosomal dominant distal myopathy
property_value: exactMatch http://identifiers.org/snomedct/763776004
property_value: exactMatch Orphanet:399081

[Term]
id: MONDO:0018371
name: nebulin-related early-onset distal myopathy
subset: ordo_disease {source="Orphanet:399103"}
synonym: "distal nebulin myopathy" RELATED [Orphanet:399103]
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:399103", source="ORDO:399103/attributed", source="ORDO:399103/ntbt"}
xref: Orphanet:399103 {source="MONDO:equivalentTo"}
is_a: MONDO:0016109 {source="Orphanet:399103"} ! autosomal recessive distal myopathy
property_value: exactMatch Orphanet:399103

[Term]
id: MONDO:0018372
name: obsolete osteonecrosis
is_obsolete: true
replaced_by: MONDO:0005380

[Term]
id: MONDO:0018373
name: avascular necrosis
def: "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." [NCIT:C34841]
subset: ordo_group_of_disorders {source="Orphanet:399164"}
synonym: "avascular necrosis of bone" EXACT []
synonym: "AVN" EXACT [Orphanet:399164]
xref: ICD10:M87.0 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: ICD10:M87.1 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: ICD10:M87.2 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: ICD10:M87.3 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: ICD10:M87.8 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: ICD10:M87.9 {source="ORDO:399164/btnt", source="Orphanet:399164"}
xref: NCIT:C34841 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.68/2.17"}
xref: Orphanet:399164 {source="MONDO:equivalentTo"}
xref: SCTID:397758007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005380 {source="NCIT:C34841", source="Orphanet:399164", source="linkedlifedata"} ! osteonecrosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027543
property_value: exactMatch http://identifiers.org/snomedct/397758007
property_value: exactMatch NCIT:C34841
property_value: exactMatch Orphanet:399164

[Term]
id: MONDO:0018374
name: secondary avascular necrosis
subset: ordo_group_of_disorders {source="Orphanet:399169"}
synonym: "secondary AVN" EXACT [Orphanet:399169]
xref: ICD10:M87.1 {source="Orphanet:399169", source="ORDO:399169/ntbt"}
xref: ICD10:M87.2 {source="Orphanet:399169", source="ORDO:399169/ntbt"}
xref: ICD10:M87.3 {source="Orphanet:399169", source="ORDO:399169/ntbt"}
xref: Orphanet:399169 {source="MONDO:equivalentTo"}
is_a: MONDO:0018373 {source="MONDOLEX:0018374", source="Orphanet:399169"} ! avascular necrosis
property_value: exactMatch Orphanet:399169

[Term]
id: MONDO:0018375
name: traumatic avascular necrosis
subset: ordo_disease {source="Orphanet:399175"}
synonym: "traumatic AVN" EXACT [Orphanet:399175]
xref: ICD10:M87.2 {source="ORDO:399175/e", source="Orphanet:399175"}
xref: Orphanet:399175 {source="MONDO:equivalentTo"}
is_a: MONDO:0018374 {source="Orphanet:399175"} ! secondary avascular necrosis
property_value: exactMatch Orphanet:399175

[Term]
id: MONDO:0018376
name: secondary non-traumatic avascular necrosis
subset: ordo_disease {source="Orphanet:399180"}
synonym: "secondary non-traumatic AVN" EXACT [Orphanet:399180]
xref: ICD10:M87.1 {source="ORDO:399180/ntbt", source="Orphanet:399180"}
xref: ICD10:M87.3 {source="ORDO:399180/ntbt", source="Orphanet:399180"}
xref: Orphanet:399180 {source="MONDO:equivalentTo"}
is_a: MONDO:0018374 {source="Orphanet:399180"} ! secondary avascular necrosis
property_value: exactMatch Orphanet:399180

[Term]
id: MONDO:0018377
name: rare hereditary disease with avascular necrosis
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399185"}
xref: Orphanet:399185 {source="MONDO:equivalentTo"}
xref: UMLS:CN205038 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018374 {source="Orphanet:399185"} ! secondary avascular necrosis
is_a: MONDO:0018384 {source="Orphanet:399185"} ! avascular necrosis of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205038
property_value: exactMatch Orphanet:399185
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018378
name: osteonecrosis of the jaw
def: "An area of necrotic bone in the mandible or maxilla." [NCIT:C63924]
subset: ordo_disease {source="Orphanet:399293"}
synonym: "jaw osteonecrosis" EXACT [NCIT:C63924]
synonym: "ONJ" EXACT [NCIT:C63924]
synonym: "osteonecrosis of jaw" EXACT [NCIT:C63924]
xref: ICD10:K10.2 {source="ORDO:399293/ntbt", source="Orphanet:399293"}
xref: ICD9:733.45 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C63924 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: Orphanet:399293 {source="MONDO:equivalentTo"}
xref: SCTID:441809006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C2711248 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C63924", source="MONDO:equivalentTo", source="Orphanet:399293"}
is_a: MONDO:0018374 {source="Orphanet:399293"} ! secondary avascular necrosis
property_value: exactMatch http://identifiers.org/snomedct/441809006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2711248
property_value: exactMatch NCIT:C63924
property_value: exactMatch Orphanet:399293

[Term]
id: MONDO:0018379
name: primary avascular necrosis
subset: ordo_group_of_disorders {source="Orphanet:399302"}
synonym: "primary AVN" EXACT [Orphanet:399302]
xref: ICD10:M87.8 {source="Orphanet:399302", source="ORDO:399302/ntbt"}
xref: Orphanet:399302 {source="MONDO:equivalentTo"}
is_a: MONDO:0018373 {source="MONDOLEX:0018379", source="Orphanet:399302"} ! avascular necrosis
property_value: exactMatch Orphanet:399302

[Term]
id: MONDO:0018380
name: idiopathic avascular necrosis
subset: ordo_disease {source="Orphanet:399307"}
synonym: "idiopathic AVN" EXACT [Orphanet:399307]
xref: ICD10:M87.0 {source="Orphanet:399307", source="ORDO:399307/e"}
xref: Orphanet:399307 {source="MONDO:equivalentTo"}
is_a: MONDO:0018379 {source="Orphanet:399307"} ! primary avascular necrosis
property_value: exactMatch Orphanet:399307

[Term]
id: MONDO:0018381
name: osteochondrosis
def: "A condition that is characterized by defective bone growth that affects the growth centers of bone." [NCIT:P378]
subset: gard_rare {source="GARD:0012704"}
subset: ordo_group_of_disorders {source="Orphanet:399319"}
synonym: "apophysitis" EXACT [DOID:8125]
synonym: "epiphyseal necrosis" EXACT [DOID:8125]
synonym: "epiphyseal necrosis, NOS" RELATED EXCLUDE [DOID:8125]
synonym: "epiphysitis" EXACT [DOID:8125]
synonym: "osteochondritis" EXACT [DOID:8125]
synonym: "osteochondritis juvenilis" EXACT [DOID:8125]
synonym: "osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [DOID:8125, MTHICD9_2006:732.9]
xref: DOID:8125 {source="MONDO:equivalentTo"}
xref: EFO:0008575 {source="MONDO:equivalentTo"}
xref: GARD:0012704 {source="MONDO:equivalentTo"}
xref: ICD10:M42 {source="MONDO:equivalentTo"}
xref: ICD10:M92 {source="DOID:8125"}
xref: ICD10:M93.9 {source="ORDO:399319/ntbt", source="Orphanet:399319", source="DOID:8125"}
xref: ICD9:732.6 {source="MONDO:relatedTo", source="i2s", source="DOID:8125"}
xref: MESH:D055034 {source="MONDO:equivalentTo", source="DOID:8125"}
xref: NCIT:C34879 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:8125"}
xref: Orphanet:399319 {source="MONDO:equivalentTo"}
xref: SCTID:19579005 {source="MONDO:kboom-pr-1.00/0.78/6.61", source="MONDO:equivalentTo", source="DOID:8125"}
xref: UMLS:C0029429 {source="MONDO:equivalentTo", source="Orphanet:399319", source="DOID:8125", source="NCIT:C34879"}
is_a: MONDO:0005380 {source="DOID:8125", source="Orphanet:399319"} ! osteonecrosis
property_value: closeMatch http://identifiers.org/snomedct/123256004
property_value: closeMatch http://identifiers.org/snomedct/156822009
property_value: closeMatch http://identifiers.org/snomedct/203398006
property_value: closeMatch http://identifiers.org/snomedct/268125000
property_value: closeMatch http://identifiers.org/snomedct/65477003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158445
property_value: exactMatch DOID:8125
property_value: exactMatch http://identifiers.org/mesh/D055034
property_value: exactMatch http://identifiers.org/snomedct/19579005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029429
property_value: exactMatch NCIT:C34879
property_value: exactMatch Orphanet:399319
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis xsd:anyURI {source="GARD:0012704"}

[Term]
id: MONDO:0018382
name: epiphysiolysis of the hip
def: "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." [Orphanet:399329]
subset: ordo_disease {source="Orphanet:399329"}
synonym: "epiphysiolysis of the upper femur" EXACT [Orphanet:399329]
synonym: "femoral head epiphysiolysis" EXACT [Orphanet:399329]
synonym: "SCFE" EXACT [Orphanet:399329]
synonym: "slipped capital femoral epiphysis" EXACT [Orphanet:399329]
synonym: "slipped upper femoral epiphysis" EXACT [Orphanet:399329]
synonym: "SufE" EXACT [Orphanet:399329]
xref: EFO:1001317 {source="MONDO:equivalentTo"}
xref: ICD10:M93.9 {source="ORDO:399329/ntbt", source="Orphanet:399329"}
xref: Orphanet:399329 {source="MONDO:equivalentTo"}
xref: SCTID:26460006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005380 {source="Orphanet:399329"} ! osteonecrosis
property_value: exactMatch http://identifiers.org/snomedct/26460006
property_value: exactMatch Orphanet:399329

[Term]
id: MONDO:0018383
name: osteonecrosis of genetic origin
def: "An instance of osteonecrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:399380"}
synonym: "bone necrosis of genetic origin" EXACT [Orphanet:399380]
synonym: "genetic osteonecrosis" EXACT [MONDO:patterns/genetic]
xref: ICD10:M93.9 {source="ORDO:399380/attributed", source="ORDO:399380/ntbt", source="Orphanet:399380"}
xref: Orphanet:399380 {source="MONDO:equivalentTo"}
is_a: MONDO:0005380 ! osteonecrosis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0005380 ! osteonecrosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:399380

[Term]
id: MONDO:0018384
name: avascular necrosis of genetic origin
def: "An instance of avascular necrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:399388"}
synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic]
xref: ICD10:M93.9 {source="Orphanet:399388", source="ORDO:399388/attributed", source="ORDO:399388/ntbt"}
xref: Orphanet:399388 {source="MONDO:equivalentTo"}
is_a: MONDO:0018373 ! avascular necrosis
is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399388"} ! osteonecrosis of genetic origin
intersection_of: MONDO:0018373 ! avascular necrosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:399388

[Term]
id: MONDO:0018385
name: osteochondrosis of genetic origin
def: "An instance of osteochondrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:399391"}
synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic]
xref: ICD10:M93.9 {source="ORDO:399391/attributed", source="ORDO:399391/ntbt", source="Orphanet:399391"}
xref: Orphanet:399391 {source="MONDO:equivalentTo"}
is_a: MONDO:0018381 ! osteochondrosis
is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399391"} ! osteonecrosis of genetic origin
intersection_of: MONDO:0018381 ! osteochondrosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:399391

[Term]
id: MONDO:0018386
name: rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399572"}
synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [Orphanet:399572]
synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [Orphanet:399572]
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:399572/ntbt", source="Orphanet:399572"}
xref: Orphanet:399572 {source="MONDO:equivalentTo"}
xref: UMLS:CN227334 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005372 {source="MONDOLEX:0018386", source="Orphanet:399572"} ! male infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0020025"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227334
property_value: exactMatch Orphanet:399572
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018387
name: rare male infertility due to adrenal disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399584"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399584", source="ORDO:399584/ntbt"}
xref: Orphanet:399584 {source="MONDO:equivalentTo"}
xref: UMLS:CN227335 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018386 {source="Orphanet:399584"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227335
property_value: exactMatch Orphanet:399584
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018388
name: rare male infertility due to testicular endocrine disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399685"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399685", source="ORDO:399685/attributed", source="ORDO:399685/ntbt"}
xref: Orphanet:399685 {source="MONDO:equivalentTo"}
xref: UMLS:CN227336 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018405 {source="Orphanet:399685"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227336
property_value: exactMatch Orphanet:399685
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018389
name: male infertility due to gonadal dysgenesis or sperm disorder
subset: ordo_group_of_disorders {source="Orphanet:399764"}
synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764]
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399764", source="ORDO:399764/attributed", source="ORDO:399764/ntbt"}
xref: Orphanet:399764 {source="MONDO:equivalentTo"}
xref: UMLS:CN227337 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005372 {source="Orphanet:399764"} ! male infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0018404"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227337
property_value: exactMatch Orphanet:399764

[Term]
id: MONDO:0018390
name: male infertility due to sperm disorder
subset: ordo_group_of_disorders {source="Orphanet:399771"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399771", source="ORDO:399771/attributed", source="ORDO:399771/ntbt"}
xref: Orphanet:399771 {source="MONDO:equivalentTo"}
xref: UMLS:CN227338 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018389 {source="Orphanet:399771"} ! male infertility due to gonadal dysgenesis or sperm disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227338
property_value: exactMatch Orphanet:399771

[Term]
id: MONDO:0018391
name: male infertility with spermatogenesis disorder
subset: ordo_group_of_disorders {source="Orphanet:399775"}
xref: GARD:0012512 {source="MONDO:equivalentTo"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399775", source="ORDO:399775/attributed", source="ORDO:399775/ntbt"}
xref: Orphanet:399775 {source="MONDO:equivalentTo"}
xref: UMLS:CN227339 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018390 {source="Orphanet:399775"} ! male infertility due to sperm disorder
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227339
property_value: exactMatch Orphanet:399775

[Term]
id: MONDO:0018392
name: male infertility with spermatogenesis disorder due to single gene mutation
subset: gard_rare {source="GARD:0012513"}
subset: ordo_group_of_disorders {source="Orphanet:399786"}
xref: GARD:0012513 {source="MONDO:equivalentTo"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399786", source="ORDO:399786/attributed", source="ORDO:399786/ntbt"}
xref: Orphanet:399786 {source="MONDO:equivalentTo"}
xref: UMLS:CN227340 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018391 {source="Orphanet:399786"} ! male infertility with spermatogenesis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227340
property_value: exactMatch Orphanet:399786
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation xsd:anyURI {source="GARD:0012513"}

[Term]
id: MONDO:0018393
name: male infertility with azoospermia or oligozoospermia due to single gene mutation
def: "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805]
subset: ordo_disease {source="Orphanet:399805"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:399805/attributed", source="ORDO:399805/ntbt", source="Orphanet:399805"}
xref: Orphanet:399805 {source="MONDO:equivalentTo"}
xref: UMLS:CN225947 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018392 {source="Orphanet:399805"} ! male infertility with spermatogenesis disorder due to single gene mutation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN225947
property_value: exactMatch Orphanet:399805

[Term]
id: MONDO:0018394
name: male infertility with teratozoospermia due to single gene mutation
def: "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." [Orphanet:399808]
subset: ordo_disease {source="Orphanet:399808"}
xref: GARD:0012514 {source="MONDO:equivalentTo"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:399808/attributed", source="ORDO:399808/ntbt", source="Orphanet:399808"}
xref: Orphanet:399808 {source="MONDO:equivalentTo"}
xref: SCTID:764096006 {source="MONDO:equivalentTo"}
xref: UMLS:CN252642 {source="MONDO:equivalentTo"}
is_a: MONDO:0018392 {source="Orphanet:399808"} ! male infertility with spermatogenesis disorder due to single gene mutation
property_value: exactMatch http://identifiers.org/snomedct/764096006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252642
property_value: exactMatch Orphanet:399808

[Term]
id: MONDO:0018395
name: male infertility due to sperm motility disorder
subset: ordo_group_of_disorders {source="Orphanet:399813"}
synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813]
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:399813/attributed", source="ORDO:399813/ntbt", source="Orphanet:399813"}
xref: Orphanet:399813 {source="MONDO:equivalentTo"}
xref: UMLS:CN227341 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018390 {source="Orphanet:399813"} ! male infertility due to sperm disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227341
property_value: exactMatch Orphanet:399813

[Term]
id: MONDO:0018396
name: rare male fertility disorder with obstructive azoospermia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399824"}
synonym: "rare disorder due to impaired sperm transport" EXACT [Orphanet:399824]
synonym: "rare disorder with obstructive azoospermia" RELATED [Orphanet:399824]
xref: Orphanet:399824 {source="MONDO:equivalentTo"}
xref: UMLS:CN227342 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020091 {source="Orphanet:399824"} ! male infertility due to obstructive azoospermia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227342
property_value: exactMatch Orphanet:399824
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018397
name: female infertility due to hypothalamic-pituitary-gonadal axis disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399831"}
synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [Orphanet:399831]
synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [Orphanet:399831]
xref: ICD10:N97.0 {source="Orphanet:399831", source="ORDO:399831/ntbt"}
xref: Orphanet:399831 {source="MONDO:equivalentTo"}
xref: UMLS:CN227343 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021124 {source="MONDOLEX:0018397", source="Orphanet:399831"} ! female infertility
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227343
property_value: exactMatch Orphanet:399831
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018398
name: female infertility due to a congenital hypogonadotropic hypogonadism
subset: ordo_group_of_disorders {source="Orphanet:399846", source="Orphanet:399839"}
synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846]
xref: ICD10:N97.0 {source="Orphanet:399839", source="ORDO:399839/attributed", source="ORDO:399839/ntbt"}
xref: Orphanet:399839 {source="MONDO:equivalentTo"}
xref: Orphanet:399846 {source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:399839"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
relationship: disease_has_feature MONDO:0018398 {source="Orphanet:399846"} ! female infertility due to a congenital hypogonadotropic hypogonadism
property_value: exactMatch Orphanet:399839
property_value: exactMatch Orphanet:399846

[Term]
id: MONDO:0018399
name: obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/414 xsd:string
is_obsolete: true
replaced_by: MONDO:0018398

[Term]
id: MONDO:0018400
name: rare female infertility due to an adrenal disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399849"}
xref: Orphanet:399849 {source="MONDO:equivalentTo"}
xref: UMLS:CN227346 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018397 {source="Orphanet:399849"} ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227346
property_value: exactMatch Orphanet:399849
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018401
name: female infertility due to an anomaly of ovarian function
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399853"}
xref: ICD10:N97.0 {source="Orphanet:399853", source="ORDO:399853/ntbt"}
xref: Orphanet:399853 {source="MONDO:equivalentTo"}
xref: UMLS:CN227347 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021124 ! female infertility
relationship: excluded_subClassOf MONDO:0018397 {source="Orphanet:399853"} ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227347
property_value: exactMatch Orphanet:399853
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018402
name: female infertility due to gonadal dysgenesis
subset: ordo_group_of_disorders {source="Orphanet:399877"}
synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877]
synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877]
synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877]
xref: ICD10:N97.0 {source="ORDO:399877/attributed", source="ORDO:399877/ntbt", source="Orphanet:399877"}
xref: Orphanet:399877 {source="MONDO:equivalentTo"}
is_a: MONDO:0021124 {source="MONDO:Redundant", source="Orphanet:399877"} ! female infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0018410"} ! rare
property_value: exactMatch Orphanet:399877

[Term]
id: MONDO:0018403
name: female infertility due to an implantation defect
subset: ordo_group_of_disorders {source="Orphanet:399882"}
synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882]
xref: ICD10:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="ORDO:399882/ntbt"}
xref: Orphanet:399882 {source="MONDO:equivalentTo"}
is_a: MONDO:0021124 {source="MONDO:Redundant", source="MONDOLEX:0018403", source="Orphanet:399882"} ! female infertility
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0020026"} ! rare
property_value: exactMatch Orphanet:399882

[Term]
id: MONDO:0018404
name: obsolete rare genetic male infertility
def: "Rare genetic male infertility." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399980"}
synonym: "rare genetic male infertility" EXACT []
xref: Orphanet:399980 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227349
property_value: exactMatch Orphanet:399980
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005372

[Term]
id: MONDO:0018405
name: rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
def: "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399983"}
synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic]
synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983]
synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983]
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399983", source="ORDO:399983/attributed", source="ORDO:399983/ntbt"}
xref: Orphanet:399983 {source="MONDO:equivalentTo"}
xref: UMLS:CN227350 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018386 ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
intersection_of: MONDO:0018386 ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227350
property_value: exactMatch Orphanet:399983
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018406
name: rare male infertility due to adrenal disorder of genetic origin
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:399994"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:399994", source="ORDO:399994/attributed", source="ORDO:399994/ntbt"}
xref: Orphanet:399994 {source="MONDO:equivalentTo"}
xref: UMLS:CN227351 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018405 {source="Orphanet:399994"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227351
property_value: exactMatch Orphanet:399994
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018407
name: male infertility due to obstructive azoospermia of genetic origin
subset: ordo_group_of_disorders {source="Orphanet:399998"}
synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998]
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:399998/attributed", source="ORDO:399998/ntbt", source="Orphanet:399998"}
xref: Orphanet:399998 {source="MONDO:equivalentTo"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0020091 ! male infertility due to obstructive azoospermia
property_value: exactMatch Orphanet:399998

[Term]
id: MONDO:0018408
name: cystic echinococcosis
subset: gard_rare
subset: ordo_disease {source="Orphanet:400"}
synonym: "echinococcus granulosus" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection of lung" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection of thyroid" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease" EXACT EXCLUDE [DOID:1495]
synonym: "Echinococcus granulosus infectious disease of liver" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease of liver" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [DOID:1495]
synonym: "hydatid disease" EXACT [Orphanet:400]
synonym: "Hydatidosis" EXACT [Orphanet:400]
synonym: "liver echinococcus granulosus" EXACT [DOID:1495]
synonym: "lung echinococcus granulosus" EXACT [DOID:1495]
synonym: "thyroid echinococcus granulosus" EXACT [DOID:1495]
synonym: "unilocular echinococcosis" EXACT [DOID:1495]
synonym: "unilocular hydatid disease" EXACT [DOID:1495]
xref: COHD:255477 {source="MONDO:equivalentTo"}
xref: DOID:1495 {source="MONDO:equivalentTo"}
xref: GARD:0002764 {source="MONDO:equivalentTo"}
xref: ICD10:B67.0 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.1 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.2 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.3 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.4 {source="Orphanet:400", source="DOID:1495", source="ORDO:400/btnt"}
xref: ICD10:B67.5 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.6 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.7 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.8 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD10:B67.9 {source="Orphanet:400", source="ORDO:400/btnt"}
xref: ICD9:122.4 {source="DOID:1495"}
xref: MedDRA:10014096 {source="Orphanet:400", source="ORDO:400/e"}
xref: Orphanet:400 {source="MONDO:equivalentTo"}
xref: SCTID:721822004 {source="MONDO:equivalentTo"}
xref: UMLS:C0153290 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0153291 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C4303092 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044346 {source="https://en.wikipedia.org/wiki/Echinococcosis#Cystic"} ! echinococcus granulosus infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/187138004
property_value: exactMatch DOID:1495
property_value: exactMatch http://identifiers.org/meddra/10014096
property_value: exactMatch http://identifiers.org/snomedct/721822004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153290
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153291
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303092
property_value: exactMatch Orphanet:400

[Term]
id: MONDO:0018409
name: rare genetic disorder with obstructive azoospermia
comment: Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:400003"}
synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003]
xref: Orphanet:400003 {source="MONDO:equivalentTo"}
xref: UMLS:CN227352 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018407 {source="Orphanet:400003"} ! male infertility due to obstructive azoospermia of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227352
property_value: exactMatch Orphanet:400003
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018410
name: obsolete rare genetic female infertility
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:400008"}
xref: Orphanet:400008 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227353 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227353
property_value: exactMatch Orphanet:400008
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021124

[Term]
id: MONDO:0018411
name: rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
def: "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:400011"}
synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic]
synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011]
synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011]
xref: ICD10:N97.0 {source="ORDO:400011/attributed", source="ORDO:400011/ntbt", source="Orphanet:400011"}
xref: Orphanet:400011 {source="MONDO:equivalentTo"}
xref: UMLS:CN227354 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018397 ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
intersection_of: MONDO:0018397 ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0018410"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227354
property_value: exactMatch Orphanet:400011
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018412
name: rare female infertility due to adrenal disorder of genetic origin
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:400018"}
xref: Orphanet:400018 {source="MONDO:equivalentTo"}
xref: UMLS:CN227355 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018400 ! rare female infertility due to an adrenal disorder
is_a: MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:400018"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227355
property_value: exactMatch Orphanet:400018
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018413
name: female infertility due to an anomaly of ovarian function of genetic origin
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:400022"}
xref: ICD10:N97.0 {source="ORDO:400022/attributed", source="ORDO:400022/ntbt", source="Orphanet:400022"}
xref: Orphanet:400022 {source="MONDO:equivalentTo"}
xref: UMLS:CN227356 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018401 ! female infertility due to an anomaly of ovarian function
relationship: excluded_subClassOf MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:400022"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227356
property_value: exactMatch Orphanet:400022
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018414
name: female infertility due to an implantation defect of genetic origin
subset: ordo_group_of_disorders {source="Orphanet:400025"}
xref: ICD10:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="ORDO:400025/attributed", source="ORDO:400025/ntbt"}
xref: Orphanet:400025 {source="MONDO:equivalentTo"}
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0018403 ! female infertility due to an implantation defect
property_value: exactMatch Orphanet:400025

[Term]
id: MONDO:0018415
name: obsolete hymenolepiasis
is_obsolete: true
replaced_by: MONDO:0005802

[Term]
id: MONDO:0018416
name: autosomal recessive spastic paraplegia type 59
subset: ordo_disease {source="Orphanet:401795"}
synonym: "SPG59" EXACT [Orphanet:401795]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401795", source="ORDO:401795/attributed", source="ORDO:401795/ntbt"}
xref: Orphanet:401795 {source="MONDO:equivalentTo"}
xref: UMLS:CN226121 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401795"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226121
property_value: exactMatch Orphanet:401795

[Term]
id: MONDO:0018417
name: autosomal recessive spastic paraplegia type 60
subset: ordo_disease {source="Orphanet:401800"}
synonym: "SPG60" EXACT [Orphanet:401800]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401800", source="ORDO:401800/attributed", source="ORDO:401800/ntbt"}
xref: Orphanet:401800 {source="MONDO:equivalentTo"}
xref: UMLS:CN226122 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401800"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226122
property_value: exactMatch Orphanet:401800

[Term]
id: MONDO:0018418
name: autosomal recessive spastic paraplegia type 66
subset: ordo_disease {source="Orphanet:401815"}
synonym: "SPG66" EXACT [Orphanet:401815]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401815/attributed", source="ORDO:401815/ntbt", source="Orphanet:401815"}
xref: Orphanet:401815 {source="MONDO:equivalentTo"}
xref: UMLS:CN226125 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401815"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226125
property_value: exactMatch Orphanet:401815

[Term]
id: MONDO:0018419
name: autosomal recessive spastic paraplegia type 67
def: "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." [Orphanet:401820]
subset: ordo_disease {source="Orphanet:401820"}
synonym: "SPG67" EXACT [Orphanet:401820]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401820", source="ORDO:401820/attributed", source="ORDO:401820/ntbt"}
xref: Orphanet:401820 {source="MONDO:equivalentTo"}
xref: SCTID:766767001 {source="MONDO:equivalentTo"}
xref: UMLS:CN226126 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401820"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://identifiers.org/snomedct/766767001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226126
property_value: exactMatch Orphanet:401820

[Term]
id: MONDO:0018420
name: autosomal recessive spastic paraplegia type 68
subset: ordo_disease {source="Orphanet:401825"}
synonym: "SPG68" EXACT [Orphanet:401825]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401825/attributed", source="ORDO:401825/ntbt", source="Orphanet:401825"}
xref: Orphanet:401825 {source="MONDO:equivalentTo"}
xref: UMLS:CN226127 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401825"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226127
property_value: exactMatch Orphanet:401825

[Term]
id: MONDO:0018421
name: autosomal recessive spastic paraplegia type 69
subset: ordo_disease {source="Orphanet:401830"}
synonym: "SPG69" EXACT [Orphanet:401830]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401830", source="ORDO:401830/attributed", source="ORDO:401830/ntbt"}
xref: Orphanet:401830 {source="MONDO:equivalentTo"}
xref: UMLS:CN226128 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401830"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226128
property_value: exactMatch Orphanet:401830

[Term]
id: MONDO:0018422
name: autosomal recessive spastic paraplegia type 70
def: "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." [Orphanet:401835]
subset: ordo_disease {source="Orphanet:401835"}
synonym: "SPG70" EXACT [Orphanet:401835]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="ORDO:401835/attributed", source="ORDO:401835/ntbt", source="Orphanet:401835"}
xref: Orphanet:401835 {source="MONDO:equivalentTo"}
xref: UMLS:CN226129 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:401835"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226129
property_value: exactMatch Orphanet:401835

[Term]
id: MONDO:0018423
name: autosomal recessive spastic paraplegia type 71
subset: ordo_disease {source="Orphanet:401840"}
synonym: "SPG71" EXACT [Orphanet:401840]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:401840", source="ORDO:401840/attributed", source="ORDO:401840/ntbt"}
xref: Orphanet:401840 {source="MONDO:equivalentTo"}
xref: UMLS:CN226130 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015090 {source="Orphanet:401840"} ! autosomal recessive pure spastic paraplegia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226130
property_value: exactMatch Orphanet:401840

[Term]
id: MONDO:0018424
name: inherited lipoic acid biosynthesis defect
def: "An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:401854"}
synonym: "inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn lipoate biosynthetic process disorder" EXACT []
synonym: "lipoate biosynthesis defect" EXACT [Orphanet:401854]
synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854]
synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679]
synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of lipoate biosynthetic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:0012679 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E88.8 {source="Orphanet:401854", source="ORDO:401854/attributed", source="ORDO:401854/ntbt"}
xref: Orphanet:401854 {source="MONDO:equivalentTo"}
is_a: MONDO:0004069 {source="Orphanet:401854"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0037858 ! inherited fatty acid metabolism disorder
is_a: MONDO:0056803 ! sulfur metabolism disease
property_value: exactMatch Orphanet:401854

[Term]
id: MONDO:0018425
name: Huntington disease-like syndrome due to C9ORF72 expansions
subset: ordo_disease {source="Orphanet:401901"}
synonym: "C9ORF72-related Huntington disease phenocopy" EXACT [Orphanet:401901]
synonym: "C9ORF72-related Huntington disease-like syndrome" EXACT [Orphanet:401901]
synonym: "Huntington disease phenocopy due to C9ORF72 expansions" EXACT [Orphanet:401901]
xref: ICD10:G10 {source="ORDO:401901/attributed", source="ORDO:401901/ntbt", source="Orphanet:401901"}
xref: Orphanet:401901 {source="MONDO:equivalentTo"}
xref: UMLS:CN226138 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015548 {source="Orphanet:401901"} ! Huntington disease-like syndrome
is_a: MONDO:0017646 {source="Orphanet:401901"} ! neurodegenerative disease with chorea
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:401901"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226138
property_value: exactMatch Orphanet:401901

[Term]
id: MONDO:0018426
name: AXIN2-related attenuated familial adenomatous polyposis
subset: ordo_clinical_subtype {source="Orphanet:401911"}
synonym: "AXIN2-related AFAP" EXACT [Orphanet:401911]
synonym: "AXIN2-related attenuated familial polyposis coli" EXACT [Orphanet:401911]
synonym: "AXIN2-related attenuated FAP" EXACT [Orphanet:401911]
xref: ICD10:D12.6 {source="ORDO:401911/attributed", source="ORDO:401911/ntbt", source="Orphanet:401911"}
xref: Orphanet:401911 {source="MONDO:equivalentTo"}
xref: UMLS:CN226139 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="Orphanet:401911"} ! attenuated familial adenomatous polyposis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226139
property_value: exactMatch Orphanet:401911

[Term]
id: MONDO:0018427
name: obsolete fibrolamellar carcinoma
is_obsolete: true
replaced_by: MONDO:0006210

[Term]
id: MONDO:0018428
name: 9q31.1q31.3 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:401923"}
synonym: "Del(9)(q31.1q31.3)" EXACT [Orphanet:401923]
synonym: "monosomy 9q31.1q31.3" EXACT [Orphanet:401923]
xref: ICD10:Q93.5 {source="ORDO:401923/attributed", source="ORDO:401923/ntbt", source="Orphanet:401923"}
xref: Orphanet:401923 {source="MONDO:equivalentTo"}
xref: UMLS:CN226140 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:401923", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:401923"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016908 {source="Orphanet:401923"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226140
property_value: exactMatch Orphanet:401923

[Term]
id: MONDO:0018429
name: 14q24.1q24.3 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:401935"}
synonym: "Del(14)(q24.1q24.3)" EXACT [Orphanet:401935]
synonym: "monosomy 14q24.1q24.3" EXACT [Orphanet:401935]
xref: ICD10:Q93.5 {source="ORDO:401935/attributed", source="ORDO:401935/ntbt", source="Orphanet:401935"}
xref: Orphanet:401935 {source="MONDO:equivalentTo"}
xref: UMLS:CN226142 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:401935", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:401935"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016912 {source="Orphanet:401935"} ! partial deletion of the long arm of chromosome 14
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226142
property_value: exactMatch Orphanet:401935

[Term]
id: MONDO:0018430
name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
def: "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." [Orphanet:401959]
subset: ordo_malformation_syndrome {source="Orphanet:401959"}
xref: ICD10:Q04.3 {source="ORDO:401959/attributed", source="ORDO:401959/ntbt", source="Orphanet:401959"}
xref: Orphanet:401959 {source="MONDO:equivalentTo"}
xref: UMLS:CN226145 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015655 {source="Orphanet:401959"} ! cerebral malformation with epilepsy
is_a: MONDO:0017118 {source="Orphanet:401959"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226145
property_value: exactMatch Orphanet:401959

[Term]
id: MONDO:0018431
name: cold-induced sweating syndrome - hyperthermia spectrum
comment: Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms
subset: ordo_group_of_disorders {source="Orphanet:401993"}
subset: ordo_inheritance_inconsistent
xref: ICD10:G90.8 {source="Orphanet:401993", source="ORDO:401993/attributed", source="ORDO:401993/ntbt"}
xref: Orphanet:401993 {source="MONDO:equivalentTo"}
xref: UMLS:CN226150 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015364 {source="MONDO:cjm", source="Orphanet:401993/inferred"} ! hereditary sensory and autonomic neuropathy
relationship: excluded_subClassOf MONDO:0015366 {source="Orphanet:401993"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226150
property_value: exactMatch Orphanet:401993

[Term]
id: MONDO:0018432
name: lichen myxedematosus
subset: ordo_group_of_disorders {source="Orphanet:402007"}
synonym: "lichen myxoedematosus" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
synonym: "lichenoid myxedema" RELATED []
synonym: "papular mucinosis" RELATED [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
xref: ICD10:L98.5 {source="Orphanet:402007", source="ORDO:402007/ntbt"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:402007 {source="MONDO:equivalentTo"}
xref: SCTID:111197009 {source="MONDO:kboom-pr-0.83/0.56/0.63", source="MONDO:equivalentTo"}
is_a: MONDO:0002523 {source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutaneous mucinosis
is_a: MONDO:0021154 {source="Orphanet:402007"} ! dermis disease
property_value: exactMatch http://identifiers.org/snomedct/111197009
property_value: exactMatch Orphanet:402007

[Term]
id: MONDO:0018433
name: acute myeloid leukemia with t(6;9)(p23;q34)
def: "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." [Orphanet:402014]
subset: ordo_disease {source="Orphanet:402014"}
synonym: "AML with t(6;9)(p23;q34)" EXACT [Orphanet:402014]
xref: ICD10:C92.0 {source="ORDO:402014/ntbt", source="Orphanet:402014"}
xref: Orphanet:402014 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:402014"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch Orphanet:402014

[Term]
id: MONDO:0018434
name: acute myeloid leukemia with t(9;11)(p22;q23)
subset: ordo_disease {source="Orphanet:402017"}
synonym: "AML with t(9;11)(p22;q23)" EXACT [Orphanet:402017]
xref: ICD10:C92.0 {source="Orphanet:402017", source="ORDO:402017/ntbt"}
xref: Orphanet:402017 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:402017"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch Orphanet:402017

[Term]
id: MONDO:0018435
name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
def: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." [Orphanet:402020]
subset: gard_rare {source="GARD:0012759"}
subset: ordo_disease {source="Orphanet:402020"}
synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [Orphanet:402020]
synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020]
synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020]
xref: GARD:0012759 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="ORDO:402020/ntbt", source="Orphanet:402020"}
xref: Orphanet:402020 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:402020"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch Orphanet:402020
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 xsd:anyURI {source="GARD:0012759"}

[Term]
id: MONDO:0018436
name: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
def: "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." [Orphanet:402023]
subset: ordo_disease {source="Orphanet:402023"}
synonym: "megakaryoblastic AML with t(1;22)(p13;q13)" EXACT [Orphanet:402023]
xref: ICD10:C94.2 {source="Orphanet:402023", source="ORDO:402023/ntbt"}
xref: Orphanet:402023 {source="MONDO:equivalentTo"}
xref: SCTID:763796007 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:402023"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch http://identifiers.org/snomedct/763796007
property_value: exactMatch Orphanet:402023

[Term]
id: MONDO:0018437
name: acute myeloid leukemia with NPM1 somatic mutations
def: "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." [Orphanet:402026]
subset: ordo_disease {source="Orphanet:402026"}
synonym: "AML with NPM1 somatic mutations" EXACT [Orphanet:402026]
xref: ICD10:C92.0 {source="Orphanet:402026", source="ORDO:402026/ntbt"}
xref: Orphanet:402026 {source="MONDO:equivalentTo"}
xref: SCTID:763309005 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:402026"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch http://identifiers.org/snomedct/763309005
property_value: exactMatch Orphanet:402026

[Term]
id: MONDO:0018438
name: eosinophilic gastrointestinal disease
subset: ordo_group_of_disorders {source="Orphanet:402029"}
synonym: "EGID" EXACT [Orphanet:402029]
synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476]
xref: ICD10:K52.8 {source="Orphanet:402029", source="ORDO:402029/ntbt"}
xref: Orphanet:402029 {source="MONDO:equivalentTo"}
xref: UMLS:CN226154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019997"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226154
property_value: exactMatch Orphanet:402029

[Term]
id: MONDO:0018439
name: eosinophilic colitis
def: "Inflammation of the colon that is characterized by eosinic infiltration." [NCIT:C27053]
subset: ordo_disease {source="Orphanet:402035"}
xref: COHD:77923 {source="MONDO:equivalentTo"}
xref: ICD10:K52.8 {source="ORDO:402035/ntbt", source="Orphanet:402035"}
xref: ICD10:K52.82 {source="MONDO:equivalentTo"}
xref: ICD9:558.42 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C27053 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:402035 {source="MONDO:equivalentTo"}
xref: SCTID:29120000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0267448 {source="MONDO:equivalentTo", source="NCIT:C27053", source="Orphanet:402035"}
is_a: MONDO:0000702 {source="NCIT:C27053"} ! microscopic colitis
is_a: MONDO:0016129 ! eosinophilic gastroenteritis
property_value: exactMatch http://identifiers.org/snomedct/29120000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267448
property_value: exactMatch NCIT:C27053
property_value: exactMatch Orphanet:402035

[Term]
id: MONDO:0018440
name: autosomal recessive distal renal tubular acidosis
def: "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." [Orphanet:402041]
subset: ordo_clinical_subtype {source="Orphanet:402041"}
synonym: "AR dRTA" EXACT [Orphanet:402041]
synonym: "autosomal recessive distal renal tubular acidosis (disease)" EXACT []
synonym: "autosomal recessive distal RTA" EXACT [Orphanet:402041]
synonym: "distal renal tubular acidosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:N25.8 {source="ORDO:402041/attributed", source="ORDO:402041/ntbt", source="Orphanet:402041"}
xref: Orphanet:402041 {source="MONDO:equivalentTo"}
xref: UMLS:C1864498 {source="MONDO:equivalentTo", source="Orphanet:402041", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:402041"} ! distal renal tubular acidosis (disease)
is_a: MONDO:0019589 {source="Orphanet:402041"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1864498
property_value: exactMatch Orphanet:402041

[Term]
id: MONDO:0018441
name: obsolete hepatitis delta
is_obsolete: true
replaced_by: MONDO:0005789

[Term]
id: MONDO:0018442
name: acitretin/etretinate embryopathy
def: "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." [Orphanet:40366]
subset: gard_rare
subset: ordo_disease {source="Orphanet:40366"}
synonym: "acitretin embryofetopathy" RELATED [GARD:0000468]
synonym: "acitretin embryopathy" RELATED [GARD:0000468]
synonym: "Acitretine embryofetopathy" RELATED [MESH:C538169]
synonym: "fetal acitretin syndrome" RELATED [GARD:0000468]
synonym: "fetal acitretin/etretinate syndrome" EXACT [Orphanet:40366]
synonym: "retinoid embryopathy" EXACT [Orphanet:40366]
xref: GARD:0000468 {source="MONDO:equivalentTo"}
xref: ICD10:Q86.8 {source="Orphanet:40366", source="ORDO:40366/ntbt"}
xref: MESH:C538169 {source="MONDO:equivalentTo"}
xref: Orphanet:40366 {source="MONDO:equivalentTo"}
xref: SCTID:725287006 {source="MONDO:equivalentTo"}
xref: UMLS:CN205049 {source="MONDO:equivalentTo"}
is_a: MONDO:0016677 {source="MESH:C538169", source="Orphanet:40366"} ! toxic or drug-related embryofetopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931755
property_value: exactMatch http://identifiers.org/mesh/C538169
property_value: exactMatch http://identifiers.org/snomedct/725287006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205049
property_value: exactMatch Orphanet:40366
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy xsd:anyURI {source="GARD:0000468"}

[Term]
id: MONDO:0018443
name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
subset: ordo_malformation_syndrome {source="Orphanet:404451"}
xref: ICD10:Q87.8 {source="ORDO:404451/attributed", source="ORDO:404451/ntbt", source="Orphanet:404451"}
xref: Orphanet:404451 {source="MONDO:equivalentTo"}
xref: UMLS:CN226185 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404451", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:404451"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226185
property_value: exactMatch Orphanet:404451

[Term]
id: MONDO:0018444
name: female infertility due to fertilization defect
subset: ordo_group_of_disorders {source="Orphanet:404469"}
synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469]
synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469]
synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469]
xref: ICD10:N97.8 {source="Orphanet:404469", source="ORDO:404469/attributed", source="ORDO:404469/ntbt"}
xref: Orphanet:404469 {source="MONDO:equivalentTo"}
is_a: MONDO:0021124 {source="Orphanet:404469"} ! female infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0018410"} ! rare
property_value: exactMatch Orphanet:404469

[Term]
id: MONDO:0018445
name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
subset: ordo_malformation_syndrome {source="Orphanet:404476"}
synonym: "glow syndrome" EXACT [Orphanet:404476]
xref: ICD10:Q87.3 {source="Orphanet:404476", source="ORDO:404476/attributed", source="ORDO:404476/ntbt"}
xref: Orphanet:404476 {source="MONDO:equivalentTo"}
xref: UMLS:CN226190 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017891 {source="Orphanet:404476"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0019716 {source="Orphanet:404476"} ! overgrowth syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226190
property_value: exactMatch Orphanet:404476

[Term]
id: MONDO:0018446
name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
subset: ordo_group_of_disorders {source="Orphanet:404481"}
xref: ICD10:G11.1 {source="ORDO:404481/attributed", source="ORDO:404481/ntbt", source="Orphanet:404481"}
xref: Orphanet:404481 {source="MONDO:equivalentTo"}
xref: UMLS:CN226191 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:404481"} ! syndromic intellectual disability
is_a: MONDO:0015244 {source="Orphanet:404481"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0015653 {source="Orphanet:404481"} ! monogenic epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226191
property_value: exactMatch Orphanet:404481

[Term]
id: MONDO:0018447
name: chondromyxoid fibroma
def: "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCIT:C3830]
subset: ordo_disease {source="Orphanet:404507"}
synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830]
xref: EFO:0000332 {source="MONDO:equivalentTo"}
xref: ICD10:D16.9 {source="ORDO:404507/ntbt", source="Orphanet:404507"}
xref: ICDO:9241/0 {source="NCIT:C3830"}
xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:404507 {source="MONDO:equivalentTo"}
xref: UMLS:C0221290 {source="MONDO:equivalentTo", source="Orphanet:404507", source="NCIT:C3830"}
is_a: MONDO:0000631 {source="MONDO:Redundant", source="NCIT:C3830"} ! bone benign neoplasm
is_a: MONDO:0024470 {source="NCIT:C3830"} ! benign chondrogenic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/39553005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221290
property_value: exactMatch NCIT:C3830
property_value: exactMatch Orphanet:404507

[Term]
id: MONDO:0018448
name: clear cell papillary renal cell carcinoma
def: "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." [Orphanet:404511]
subset: ordo_histopathological_subtype {source="Orphanet:404511"}
xref: ICD10:C64 {source="ORDO:404511/ntbt", source="Orphanet:404511"}
xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"}
xref: Orphanet:404511 {source="MONDO:equivalentTo"}
xref: SCTID:734015000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518333 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007763 {source="Orphanet:404511"} ! nonpapillary renal cell carcinoma
property_value: exactMatch http://identifiers.org/snomedct/734015000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518333
property_value: exactMatch Orphanet:404511

[Term]
id: MONDO:0018449
name: acquired cystic disease-associated renal cell carcinoma
def: "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." [Orphanet:404514]
subset: ordo_disease {source="Orphanet:404514"}
xref: ICD10:C64 {source="Orphanet:404514", source="ORDO:404514/ntbt"}
xref: Orphanet:404514 {source="MONDO:equivalentTo"}
xref: UMLS:CN226194 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005086 {source="MONDOLEX:0018449", source="Orphanet:404514"} ! renal cell carcinoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226194
property_value: exactMatch Orphanet:404514

[Term]
id: MONDO:0018450
name: spinal muscular atrophy with respiratory distress type 2
def: "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." [Orphanet:404521]
subset: ordo_disease {source="Orphanet:404521"}
synonym: "diaphragmatic spinal muscular atrophy type 2" EXACT [Orphanet:404521]
synonym: "severe infantile axonal neuropathy with respiratory failure type 2" EXACT [Orphanet:404521]
synonym: "SMARD2" EXACT [Orphanet:404521]
synonym: "X-linked spinal muscular atrophy with respiratory distress" EXACT [Orphanet:404521]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:404521/attributed", source="ORDO:404521/ntbt", source="Orphanet:404521"}
xref: Orphanet:404521 {source="MONDO:equivalentTo"}
xref: UMLS:CN226195 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018451 {source="Orphanet:404521"} ! X-linked distal hereditary motor neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226195
property_value: exactMatch Orphanet:404521

[Term]
id: MONDO:0018451
name: X-linked distal hereditary motor neuropathy
def: "X-linked form of distal hereditary motor neuropathy." [MONDO:patterns/x_linked]
subset: ordo_group_of_disorders {source="Orphanet:404538"}
synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked dHMN" EXACT [Orphanet:404538]
synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538]
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="Orphanet:404538", source="ORDO:404538/attributed", source="ORDO:404538/ntbt"}
xref: Orphanet:404538 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:404538"} ! distal hereditary motor neuropathy
property_value: exactMatch Orphanet:404538

[Term]
id: MONDO:0018452
name: deficiency of the interleukin-36 receptor antagonist
def: "An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash." [NCIT:C119057]
subset: ordo_disease {source="Orphanet:404546"}
synonym: "deficiency of IL-36R antagonist" EXACT [Orphanet:404546]
synonym: "deficiency of IL-36Ra" EXACT [Orphanet:404546]
synonym: "deficiency of the Interleukin-36 receptor antagonist" EXACT [NCIT:C119057]
synonym: "DITRA" EXACT [NCIT:C119057]
synonym: "familial generalized pustular psoriasis" EXACT [NCIT:C119057]
synonym: "PSORP" EXACT [NCIT:C119057]
xref: ICD10:L40.1 {source="Orphanet:404546", source="ORDO:404546/attributed", source="ORDO:404546/ntbt"}
xref: NCIT:C119057 {source="MONDO:equivalentTo"}
xref: Orphanet:404546 {source="MONDO:equivalentTo"}
xref: UMLS:CN226196 {source="MONDO:equivalentTo"}
is_a: MONDO:0017133 {source="MONDO:Entailed", source="Orphanet:404546"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0017369 {source="Orphanet:404546"} ! autoinflammatory syndrome with immune deficiency
is_a: MONDO:0017370 {source="Orphanet:404546"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:404546"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226196
property_value: exactMatch NCIT:C119057
property_value: exactMatch Orphanet:404546

[Term]
id: MONDO:0018453
name: familial atypical multiple mole melanoma syndrome
subset: ordo_disease {source="Orphanet:404560"}
synonym: "B-K mole syndrome" EXACT [Orphanet:404560]
synonym: "familial atypical mole melanoma syndrome" EXACT [NCIT:C27264]
synonym: "familial atypical mole syndrome" EXACT [Orphanet:404560]
synonym: "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" EXACT [Orphanet:404560]
synonym: "familial Clark nevus syndrome" EXACT [Orphanet:404560]
synonym: "familial dysplastic nevus syndrome" EXACT [Orphanet:404560]
synonym: "FAMM syndrome" EXACT [NCIT:C27264]
synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560]
synonym: "FAMMM syndrome" EXACT [Orphanet:404560]
synonym: "melanoma-pancreatic cancer syndrome" EXACT [Orphanet:404560]
xref: ICD10:D22.9 {source="ORDO:404560/nd", source="ORDO:404560/attributed", source="Orphanet:404560"}
xref: NCIT:C27264 {source="MONDO:equivalentTo"}
xref: Orphanet:404560 {source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="NCIT:C27264", source="Orphanet:404560"} ! hereditary neoplastic syndrome
is_a: MONDO:0015950 {source="Orphanet:404560", source="indirect"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:404560"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013403
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205747
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838547
property_value: exactMatch NCIT:C27264
property_value: exactMatch Orphanet:404560

[Term]
id: MONDO:0018454
name: dysostosis of genetic origin
def: "An instance of dysostosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:404568"}
synonym: "genetic dysostosis" EXACT [MONDO:patterns/genetic]
xref: Orphanet:404568 {source="MONDO:equivalentTo"}
is_a: MONDO:0018234 {source="MONDO:Redundant", source="MONDO:cjm"} ! dysostosis
is_a: MONDO:0018457 {source="Orphanet:404568"} ! rare genetic bone development disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0018234 ! dysostosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:404568

[Term]
id: MONDO:0018455
name: dysostosis of genetic origin with limb anomaly as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:404571"}
xref: Orphanet:404571 {source="MONDO:equivalentTo"}
is_a: MONDO:0018235 ! dysostosis with limb anomaly as a major feature
is_a: MONDO:0018454 {source="MONDO:Redundant", source="MONDOLEX:0018455", source="Orphanet:404571"} ! dysostosis of genetic origin
property_value: exactMatch Orphanet:404571
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0018456
name: polyarticular juvenile idiopathic arthritis
subset: ordo_group_of_disorders {source="Orphanet:404580"}
synonym: "juvenile polyarthritis" EXACT [Orphanet:404580]
synonym: "juvenile polyarticular arthritis" EXACT [Orphanet:404580]
synonym: "polyarticular JIA" EXACT [Orphanet:404580]
xref: EFO:1002020 {source="MONDO:equivalentTo"}
xref: Orphanet:404580 {source="MONDO:equivalentTo"}
xref: SCTID:16044751000119106 {source="MONDO:equivalentTo"}
is_a: MONDO:0011429 {source="Orphanet:404580"} ! juvenile idiopathic arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409667
property_value: exactMatch http://identifiers.org/snomedct/16044751000119106
property_value: exactMatch Orphanet:404580

[Term]
id: MONDO:0018457
name: rare genetic bone development disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:404584"}
synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584]
xref: Orphanet:404584 {source="MONDO:equivalentTo"}
xref: UMLS:CN227376 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021147 {source="Orphanet:404584"} ! disorder of development or morphogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227376
property_value: exactMatch Orphanet:404584
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018458
name: familial hypocalciuric hypercalcemia
def: "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." [Orphanet:405]
subset: ordo_disease {source="Orphanet:405"}
synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, Orphanet:405]
synonym: "familial benign hypocalciuric hypercalcemia" EXACT [DOID:0060699, Orphanet:405]
synonym: "FBH" RELATED [DOID:0060699, Orphanet:405]
synonym: "FBHH" RELATED [DOID:0060699, Orphanet:405]
synonym: "FHH" RELATED [DOID:0060699, Orphanet:405]
synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980]
xref: DOID:0060699 {source="MONDO:equivalentTo"}
xref: GARD:0010828 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E83.5 {source="Orphanet:405", source="DOID:0060699", source="ORDO:405/attributed", source="ORDO:405/ntbt"}
xref: NCIT:C123262 {source="MONDO:kboom-pr-0.91/0.78/0.40", source="MONDO:equivalentTo"}
xref: OMIMPS:145980 {source="DOID:0060699", source="MONDO:equivalentTo"}
xref: Orphanet:405 {source="DOID:0060699", source="MONDO:equivalentTo"}
xref: SCTID:237885008 {source="MONDO:kboom-pr-0.88/0.74/0.12", source="MONDO:equivalentTo"}
xref: UMLS:C0342637 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1809471 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:405", source="NCIT:C123262", source="MONDO:equivalentTo"}
is_a: MONDO:0001566 {source="DOID:0060699", source="linkedlifedata"} ! hypercalcemia disease
is_a: MONDO:0015970 {source="Orphanet:405"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
is_a: MONDO:0017024 {source="Orphanet:405"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019061 {source="Orphanet:405"} ! rare parathyroid disease and phosphocalcic metabolism anomaly
is_a: MONDO:0019705 {source="Orphanet:405"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0060699
property_value: exactMatch http://identifiers.org/snomedct/237885008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1809471
property_value: exactMatch NCIT:C123262
property_value: exactMatch Orphanet:405

[Term]
id: MONDO:0018459
name: isolated glycerol kinase deficiency
def: "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." [Orphanet:408]
comment: Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49
subset: ordo_disease {source="Orphanet:408"}
synonym: "hyperglycerolemia" EXACT [Orphanet:408]
synonym: "isolated inborn glycerol kinase deficiency" EXACT []
synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated]
xref: GARD:0002807 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E74.8 {source="ORDO:408/attributed", source="ORDO:408/ntbt", source="Orphanet:408"}
xref: Orphanet:408 {source="MONDO:equivalentTo"}
is_a: MONDO:0010613 {source="MONDO:Redundant", source="Orphanet:408"} ! inborn glycerol kinase deficiency
intersection_of: MONDO:0010613 ! inborn glycerol kinase deficiency
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/mesh/C538138
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574108
property_value: exactMatch Orphanet:408

[Term]
id: MONDO:0018460
name: Eales disease
def: "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." [Orphanet:40923]
subset: gard_rare {source="GARD:0006309"}
subset: ordo_disease {source="Orphanet:40923"}
synonym: "idiopathic obliterative vasculopathy" RELATED [GARD:0006309]
synonym: "idiopathic recurrent vitreal hemorrhage" RELATED [GARD:0006309]
synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923]
synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923]
xref: GARD:0006309 {source="MONDO:equivalentTo"}
xref: ICD10:H35.0 {source="ORDO:40923/ntbt", source="Orphanet:40923"}
xref: MedDRA:10057429 {source="ORDO:40923/e", source="Orphanet:40923"}
xref: MESH:C538011 {source="MONDO:equivalentTo", source="ORDO:40923/e", source="MONDO:ontobio", source="Orphanet:40923"}
xref: Orphanet:40923 {source="MONDO:equivalentTo"}
xref: SCTID:54122009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"}
xref: UMLS:C0271073 {source="MONDO:equivalentTo", source="ORDO:40923/e", source="Orphanet:40923"}
is_a: MONDO:0005283 ! retinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10057429
property_value: exactMatch http://identifiers.org/mesh/C538011
property_value: exactMatch http://identifiers.org/snomedct/54122009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271073
property_value: exactMatch Orphanet:40923
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6309/eales-disease xsd:anyURI {source="GARD:0006309"}

[Term]
id: MONDO:0018461
name: Angelman syndrome due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:411511"}
xref: ICD10:Q93.5 {source="Orphanet:411511", source="ORDO:411511/attributed", source="ORDO:411511/ntbt"}
xref: Orphanet:411511 {source="MONDO:equivalentTo"}
xref: UMLS:CN237441 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007113 {source="Orphanet:411511"} ! Angelman syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237441
property_value: exactMatch Orphanet:411511

[Term]
id: MONDO:0018462
name: Angelman syndrome due to imprinting defect in 15q11-q13
subset: ordo_etiological_subtype {source="Orphanet:411515"}
xref: ICD10:Q93.5 {source="ORDO:411515/attributed", source="ORDO:411515/ntbt", source="Orphanet:411515"}
xref: Orphanet:411515 {source="MONDO:equivalentTo"}
xref: UMLS:CN237442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007113 {source="Orphanet:411515"} ! Angelman syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237442
property_value: exactMatch Orphanet:411515

[Term]
id: MONDO:0018463
name: mild phosphoribosylpyrophosphate synthetase superactivity
def: "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity (see this term), an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." [Orphanet:411536]
subset: ordo_clinical_subtype {source="Orphanet:411536"}
synonym: "mild PRPP synthetase superactivity" EXACT [Orphanet:411536]
synonym: "mild PRPS1 superactivity" EXACT [Orphanet:411536]
xref: ICD10:E79.8 {source="ORDO:411536/attributed", source="ORDO:411536/ntbt", source="Orphanet:411536"}
xref: Orphanet:411536 {source="MONDO:equivalentTo"}
xref: UMLS:CN237443 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010395 {source="Orphanet:411536"} ! phosphoribosylpyrophosphate synthetase superactivity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237443
property_value: exactMatch Orphanet:411536

[Term]
id: MONDO:0018464
name: severe phosphoribosylpyrophosphate synthetase superactivity
def: "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity (see this term), an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." [Orphanet:411543]
subset: ordo_clinical_subtype {source="Orphanet:411543"}
synonym: "severe PRPP synthetase superactivity" EXACT [Orphanet:411543]
synonym: "severe PRPS1 superactivity" EXACT [Orphanet:411543]
xref: ICD10:E79.8 {source="Orphanet:411543", source="ORDO:411543/attributed", source="ORDO:411543/ntbt"}
xref: Orphanet:411543 {source="MONDO:equivalentTo"}
xref: UMLS:CN237444 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010395 {source="Orphanet:411543"} ! phosphoribosylpyrophosphate synthetase superactivity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237444
property_value: exactMatch Orphanet:411543

[Term]
id: MONDO:0018465
name: insulin autoimmune syndrome
def: "Insulin autoimmune syndrome is a rare condition that causes low blood sugar ( hypoglycemia ). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." [https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome]
subset: gard_rare {source="GARD:0010808"}
subset: ordo_disease {source="Orphanet:411593"}
synonym: "Hirata disease" EXACT [Orphanet:411593]
synonym: "insulin autoimmune hypoglycemia" RELATED [GARD:0010808]
xref: DOID:0040100 {source="MONDO:equivalentTo"}
xref: GARD:0010808 {source="MONDO:equivalentTo"}
xref: ICD10:E16.1 {source="Orphanet:411593", source="ORDO:411593/ntbt"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:411593 {source="MONDO:equivalentTo"}
xref: SCTID:408539000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0854359 {source="DOID:0040100", source="MONDO:equivalentTo", source="Orphanet:411593"}
is_a: MONDO:0000569 {source="DOID:0040100", source="linkedlifedata"} ! autoimmune disease of endocrine system
is_a: MONDO:0018619 {source="Orphanet:411593"} ! hyperinsulinemic hypoglycaemia
property_value: exactMatch DOID:0040100
property_value: exactMatch http://identifiers.org/snomedct/408539000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854359
property_value: exactMatch Orphanet:411593
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome xsd:anyURI {source="GARD:0010808"}

[Term]
id: MONDO:0018466
name: hereditary late onset Parkinson disease
def: "Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)." [Orphanet:411602]
subset: ordo_disease {source="Orphanet:411602"}
synonym: "autosomal dominant late-onset Parkinson disease" EXACT [Orphanet:411602]
synonym: "hereditary late-onset Parkinson disease" RELATED [Orphanet:411602]
synonym: "late onset Parkinson disease" RELATED [DOID:0060892]
synonym: "late onset Parkinson's disease" RELATED [DOID:0060892]
synonym: "late-onset Parkinson disease" BROAD [Orphanet:411602]
synonym: "LOPD" EXACT [Orphanet:411602]
xref: DOID:0060892 {source="MONDO:equivalentTo"}
xref: ICD10:G20 {source="ORDO:411602/attributed", source="ORDO:411602/ntbt", source="Orphanet:411602"}
xref: Orphanet:411602 {source="DOID:0060892", source="MONDO:equivalentTo"}
xref: SCTID:716662004 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
is_a: MONDO:0008199 {source="MONDO:cjm", source="MONDOLEX:0018466"} ! late-onset Parkinson disease
is_a: MONDO:0015914 {source="Orphanet:411602"} ! primary orthostatic hypotension
is_a: MONDO:0017661 {source="Orphanet:411602"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease
property_value: exactMatch DOID:0060892
property_value: exactMatch http://identifiers.org/snomedct/716662004
property_value: exactMatch Orphanet:411602

[Term]
id: MONDO:0018467
name: nephropathic infantile cystinosis
def: "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411629]
subset: ordo_clinical_subtype {source="Orphanet:411629"}
synonym: "CTNS" RELATED [MONDO:Lexical, OMIM:219800]
synonym: "cystinosin, defect of" RELATED [OMIM:219800]
synonym: "cystinosis, atypical nephropathic" RELATED [OMIM:219800]
synonym: "cystinosis, infantile nephropathic" EXACT [OMIM:219800]
synonym: "lysosomal cystine transport protein, defect of" RELATED [OMIM:219800]
xref: ICD10:E72.0+ {source="ORDO:411629/attributed", source="ORDO:411629/ntbt", source="Orphanet:411629"}
xref: ICD10:N16.3* {source="ORDO:411629/attributed", source="ORDO:411629/ntbt", source="Orphanet:411629"}
xref: MONDO:0009065 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:411629 {source="OMIM:219800", source="MONDO:equivalentTo"}
is_a: MONDO:0019743 {source="Orphanet:411629"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0100151 {source="NCIT:C129932", source="ORDO:213/btnt"} ! nephropathic cystinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749685
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931187
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3537440
property_value: exactMatch Orphanet:411629

[Term]
id: MONDO:0018468
name: proton-pump inhibitor-responsive esophageal eosinophilia
def: "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." [Orphanet:411696]
subset: ordo_disease {source="Orphanet:411696"}
synonym: "PPI-REE" EXACT [Orphanet:411696]
synonym: "PPI-responsive esophageal eosinophilia" EXACT [Orphanet:411696]
synonym: "PPIRee" EXACT [Orphanet:411696]
xref: ICD10:K20 {source="Orphanet:411696", source="ORDO:411696/ntbt"}
xref: Orphanet:411696 {source="MONDO:equivalentTo"}
is_a: MONDO:0018438 {source="Orphanet:411696"} ! eosinophilic gastrointestinal disease
property_value: exactMatch Orphanet:411696

[Term]
id: MONDO:0018469
name: pulmonary non-tuberculous mycobacterial infection
subset: ordo_disease {source="Orphanet:411703"}
synonym: "non-tuberculous mycobacterial lung disease" EXACT [Orphanet:411703]
synonym: "nontuberculous mycobacterial lung disease" RELATED [GARD:0012829]
xref: GARD:0012829 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A31.0 {source="ORDO:411703/e", source="Orphanet:411703"}
xref: Orphanet:411703 {source="MONDO:equivalentTo"}
xref: UMLS:CN237452 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005275 ! lung disease
is_a: MONDO:0020590 ! mycobacterial infectious disease
is_a: MONDO:0024355 ! respiratory tract infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237452
property_value: exactMatch Orphanet:411703

[Term]
id: MONDO:0018470
name: renal agenesis (disease)
def: "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s)." [Orphanet:411709]
subset: ordo_morphological_anomaly {source="Orphanet:411709"}
synonym: "hereditary renal aplasia" EXACT [DOID:14766]
synonym: "hereditary urogenital adysplasia" EXACT [DOID:14766]
synonym: "renal adysplasia" EXACT [DOID:14766]
synonym: "renal agenesis" EXACT [MONDO:ambiguous]
synonym: "renal aplasia" EXACT [DOID:14766]
synonym: "renal hypodysplasia/aplasia" RELATED [OMIMPS:191830]
xref: COHD:4003487 {source="MONDO:equivalentTo"}
xref: DOID:14766 {source="MONDO:equivalentTo"}
xref: GARD:0009228 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0000104 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q60.0 {source="MONDO:superClassOf", source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"}
xref: ICD10:Q60.1 {source="MONDO:superClassOf", source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"}
xref: ICD10:Q60.2 {source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"}
xref: NCIT:C99041 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:191830 {source="MONDO:equivalentTo"}
xref: Orphanet:411709 {source="OMIM:191830", source="MONDO:equivalentTo"}
xref: SCTID:204942005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019720 {source="Orphanet:411709"} ! non-syndromic renal or urinary tract malformation
relationship: disease_causes_feature MONDO:0001558 {source="GARD:0004462", source="https://en.wikipedia.org/wiki/Potter_sequence"} ! Potter sequence
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158699
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0542519
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1609433
property_value: exactMatch DOID:14766
property_value: exactMatch http://identifiers.org/snomedct/204942005
property_value: exactMatch NCIT:C99041
property_value: exactMatch Orphanet:411709

[Term]
id: MONDO:0018471
name: generalized eruptive keratoacanthoma
def: "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." [Orphanet:411777]
subset: ordo_disease {source="Orphanet:411777"}
synonym: "GEKA" EXACT [Orphanet:411777]
synonym: "generalized eruptive keratoacanthomas of Grzybowski" EXACT [Orphanet:411777]
synonym: "Grzybowski syndrome" EXACT [Orphanet:411777]
xref: ICD10:L85.8 {source="Orphanet:411777", source="ORDO:411777/ntbt"}
xref: Orphanet:411777 {source="MONDO:equivalentTo"}
xref: SCTID:254664008 {source="MONDO:kboom-pr-1.00/0.79/7.78", source="MONDO:equivalentTo"}
xref: UMLS:C0345985 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN237455 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002527 {source="MONDOLEX"} ! keratoacanthoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:411777"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/snomedct/254664008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237455
property_value: exactMatch Orphanet:411777

[Term]
id: MONDO:0018472
name: familial isolated trichomegaly
def: "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." [Orphanet:411788]
subset: ordo_disease {source="Orphanet:411788"}
xref: Orphanet:411788 {source="MONDO:equivalentTo"}
xref: SCTID:764523004 {source="MONDO:equivalentTo"}
is_a: MONDO:0008593 ! trichomegaly
is_a: MONDO:0021027 {source="OWLReasoner:2017", source="Orphanet:411788"} ! genetic hair anomaly
property_value: exactMatch http://identifiers.org/snomedct/764523004
property_value: exactMatch Orphanet:411788

[Term]
id: MONDO:0018473
name: hyperlipoproteinemia type 3
def: "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." [Orphanet:412]
subset: ordo_disease {source="Orphanet:412"}
synonym: "apolipoprotein E, deficiency or defect of" RELATED [OMIM:617347]
synonym: "Broad beta disease" RELATED [GARD:0006703]
synonym: "Broad-betalipoproteinemia" EXACT [Orphanet:412]
synonym: "carbohydrate induced hyperlipemia" EXACT [CSP2005:1849-4681, CSP2005:1849-4738, DOID:3145]
synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [OMIM:617347]
synonym: "dysbetalipoproteinemia" RELATED [GARD:0006703]
synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [OMIM:617347]
synonym: "dyslipidemia type 3" EXACT [Orphanet:412]
synonym: "familial dysbetalipoproteinemia" EXACT [Orphanet:412]
synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [OMIM:617347]
synonym: "familial hypercholesterolaemia with hyperlipaemia" RELATED [DOID:3145]
synonym: "familial hypercholesterolemia with hyperlipemia" RELATED [OMIM:617347]
synonym: "familial hyperlipoproteinemia type 3" EXACT [Orphanet:412]
synonym: "familial type 3 hyperlipoproteinemia" EXACT [DOID:3145]
synonym: "floating-betalipoproteinemia" RELATED [OMIM:617347]
synonym: "HLP type 3" EXACT [Orphanet:412]
synonym: "hyperlipemia with Familial Hypercholesterolemic xanthomatosis" RELATED [OMIM:617347]
synonym: "hyperlipidemia type 3" EXACT [Orphanet:412]
synonym: "hyperlipoproteinemia type III" EXACT [MONDO:0002524]
synonym: "hyperlipoproteinemia, type III" RELATED [OMIM:617347]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 5" RELATED [OMIM:617347]
synonym: "remnant disease" EXACT [Orphanet:412]
synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710]
synonym: "remnant removal disease" RELATED [GARD:0006703]
xref: DOID:3145 {source="MONDO:equivalentTo"}
xref: GARD:0006703 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E78.2 {source="Orphanet:412", source="ORDO:412/inclusion", source="ORDO:412/ntbt"}
xref: MedDRA:10060751 {source="Orphanet:412", source="ORDO:412/e"}
xref: OMIM:617347 {source="Orphanet:412", source="MONDO:equivalentTo"}
xref: Orphanet:412 {source="OMIM:617347", source="MONDO:equivalentTo"}
xref: SCTID:398796005 {source="DOID:3145", source="MONDO:kboom-pr-0.91/0.82/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0020479 {source="MEDGEN:kboom-pr97-c98", source="OMIM:617347", source="Orphanet:412", source="DOID:3145", source="MONDO:equivalentTo", source="ORDO:412/e"}
xref: UMLS:C1862561 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0001807 {source="Orphanet:412"} ! familial combined hyperlipidemia
property_value: closeMatch http://identifiers.org/snomedct/42569002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862591
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676098
property_value: exactMatch DOID:3145
property_value: exactMatch http://identifiers.org/meddra/10060751
property_value: exactMatch http://identifiers.org/mesh/D006952
property_value: exactMatch http://identifiers.org/omim/617347
property_value: exactMatch http://identifiers.org/snomedct/398796005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020479
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862561
property_value: exactMatch NCIT:C34710
property_value: exactMatch Orphanet:412

[Term]
id: MONDO:0018474
name: 13q12.3 microdeletion syndrome
def: "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." [Orphanet:412035]
subset: ordo_malformation_syndrome {source="Orphanet:412035"}
synonym: "Del(13)(q12.3)" EXACT [Orphanet:412035]
synonym: "monosomy 13q12.3" EXACT [Orphanet:412035]
xref: ICD10:Q93.5 {source="ORDO:412035/attributed", source="ORDO:412035/ntbt", source="Orphanet:412035"}
xref: Orphanet:412035 {source="MONDO:equivalentTo"}
xref: UMLS:CN237459 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:412035", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:412035"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016911 {source="Orphanet:412035"} ! partial deletion of the long arm of chromosome 13
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019274 {source="Orphanet:412035"} ! other epidermal disorder
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237459
property_value: exactMatch Orphanet:412035

[Term]
id: MONDO:0018475
name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
subset: ordo_disease {source="Orphanet:412066"}
xref: ICD10:G31.8 {source="Orphanet:412066", source="ORDO:412066/attributed", source="ORDO:412066/ntbt"}
xref: Orphanet:412066 {source="MONDO:equivalentTo"}
xref: UMLS:CN237461 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:412066"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237461
property_value: exactMatch Orphanet:412066

[Term]
id: MONDO:0018476
name: dystonia-aphonia syndrome
subset: ordo_disease {source="Orphanet:412217"}
xref: ICD10:G24.8 {source="Orphanet:412217", source="ORDO:412217/attributed", source="ORDO:412217/ntbt"}
xref: Orphanet:412217 {source="MONDO:equivalentTo"}
xref: UMLS:CN237465 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018329 {source="Orphanet:412217"} ! persistent combined dystonia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237465
property_value: exactMatch Orphanet:412217

[Term]
id: MONDO:0018477
name: bilirubin encephalopathy
subset: ordo_clinical_syndrome {source="Orphanet:415286"}
synonym: "hyperbilirubinemic encephalopathy" RELATED [GARD:0006830]
synonym: "kernicterus" EXACT [Orphanet:415286]
synonym: "kernicterus spectrum disorder" RELATED [Orphanet:415286]
xref: GARD:0006830 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:P57.9 {source="ORDO:415286/ntbt", source="Orphanet:415286"}
xref: Orphanet:415286 {source="MONDO:equivalentTo"}
xref: SCTID:50143004 {source="MONDO:kboom-pr-0.74/0.45/0.17", source="MONDO:equivalentTo"}
is_a: MONDO:0017755 {source="Orphanet:415286"} ! inborn disorder of bilirubin metabolism
is_a: MONDO:0019058 {source="Orphanet:415286"} ! neurometabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022610
property_value: exactMatch http://identifiers.org/snomedct/50143004
property_value: exactMatch Orphanet:415286

[Term]
id: MONDO:0018478
name: obsolete primary hyperoxaluria
is_obsolete: true
replaced_by: MONDO:0002474

[Term]
id: MONDO:0018479
name: congenital adrenal hyperplasia
def: "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." [Orphanet:418]
subset: ordo_group_of_disorders {source="Orphanet:418"}
synonym: "adrenal hyperplasia" EXACT [NCIT:C34360]
synonym: "adrenal hyperplasia, congenital" EXACT [NCIT:C34360]
synonym: "adrenogenital disorder" EXACT [NCIT:C34360]
synonym: "adrenogenital syndrome" EXACT [NCIT:C34360]
synonym: "CAH" EXACT [Orphanet:418]
synonym: "congenital adrenal gland hyperplasia" EXACT [NCIT:C34360]
synonym: "congenital lipoid adrenal hyperplasia" EXACT [DOID:0050811]
synonym: "lipoid CAH" EXACT [DOID:0050811]
xref: DOID:0050811 {source="MONDO:equivalentTo"}
xref: GARD:0001467 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E25 {source="DOID:0050811"}
xref: ICD10:E25.0 {source="ORDO:418/specific", source="ORDO:418/e", source="Orphanet:418"}
xref: ICD10:E25.9 {source="DOID:0050811"}
xref: ICD9:255.2 {source="DOID:0050811"}
xref: MedDRA:10010323 {source="ORDO:418/e", source="Orphanet:418"}
xref: MESH:D000312 {source="ORDO:418/e", source="MONDO:equivalentTo", source="Orphanet:418"}
xref: NCIT:C34360 {source="MONDO:equivalentTo"}
xref: Orphanet:418 {source="MONDO:equivalentTo", source="DOID:0050811"}
xref: SCTID:237751000 {source="MONDO:kboom-pr-0.89/0.76/0.27", source="MONDO:equivalentTo"}
xref: UMLS:C0001627 {source="NCIT:C34360", source="ORDO:418/e", source="MONDO:equivalentTo", source="Orphanet:418"}
xref: UMLS:C0701163 {source="MONDO:equivalentTo", source="DOID:0050811", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005523 {source="DOID:0050811", source="MESH:D000312"} ! steroid inherited metabolic disorder
is_a: MONDO:0015129 {source="Orphanet:418", source="Orphanet:418/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015514 {source="Orphanet:418"} ! genetic endocrine growth disease
is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418", source="linkedlifedata"} ! adrenogenital syndrome
is_a: MONDO:0019590 {source="Orphanet:418"} ! rare endocrine growth disease
property_value: closeMatch http://identifiers.org/snomedct/154706003
property_value: closeMatch http://identifiers.org/snomedct/190510000
property_value: closeMatch http://identifiers.org/snomedct/190519004
property_value: exactMatch DOID:0050811
property_value: exactMatch http://identifiers.org/meddra/10010323
property_value: exactMatch http://identifiers.org/mesh/D000312
property_value: exactMatch http://identifiers.org/snomedct/237751000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0701163
property_value: exactMatch NCIT:C34360
property_value: exactMatch Orphanet:418

[Term]
id: MONDO:0018480
name: carcinoma of esophagus, salivary gland type
subset: ordo_disease {source="Orphanet:418945"}
synonym: "esophageal carcinoma, salivary gland type" EXACT [Orphanet:418945]
xref: ICD10:C15.0 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.1 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.2 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.3 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.4 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.5 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: ICD10:C15.8 {source="Orphanet:418945", source="ORDO:418945/nd"}
xref: Orphanet:418945 {source="MONDO:equivalentTo"}
xref: UMLS:CN237468 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019086 {source="MONDOLEX:0018480", source="Orphanet:418945"} ! carcinoma of esophagus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237468
property_value: exactMatch Orphanet:418945

[Term]
id: MONDO:0018481
name: undifferentiated carcinoma of esophagus
def: "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:418951"}
synonym: "esophageal undifferentiated carcinoma" EXACT [NCIT:C27422]
synonym: "esophagus undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated esophageal cancer" EXACT [NCIT:C27422]
synonym: "undifferentiated esophageal carcinoma" EXACT [Orphanet:418951]
xref: ICD10:C15.0 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.1 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.2 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.3 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.4 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.5 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: ICD10:C15.8 {source="Orphanet:418951", source="ORDO:418951/nd"}
xref: NCIT:C27422 {source="MONDO:equivalentTo"}
xref: Orphanet:418951 {source="MONDO:equivalentTo"}
xref: UMLS:C2188058 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27422", source="MONDO:equivalentTo"}
xref: UMLS:CN237469 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005580 {source="NCIT:C27422"} ! esophageal squamous cell carcinoma
is_a: MONDO:0005617 {source="MONDO:Redundant", source="MONDOLEX:0018481", source="NCIT:C27422"} ! undifferentiated carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2188058
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237469
property_value: exactMatch NCIT:C27422
property_value: exactMatch Orphanet:418951

[Term]
id: MONDO:0018482
name: obsolete squamous cell carcinoma of stomach
is_obsolete: true
replaced_by: MONDO:0006230

[Term]
id: MONDO:0018483
name: secondary pulmonary alveolar proteinosis
def: "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." [PMID:19465834]
comment: Editor note: TODO DP for secondary diseases
subset: ordo_disease {source="Orphanet:420259"}
synonym: "secondary PAP" EXACT [Orphanet:420259]
synonym: "SPAP" EXACT [PMID:19465834]
xref: ICD10:J84.0 {source="ORDO:420259/ntbt", source="Orphanet:420259"}
xref: Orphanet:420259 {source="MONDO:equivalentTo"}
xref: SCTID:707510005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3873302 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001437 {source="MONDO:cjm", source="linkedlifedata"} ! pulmonary alveolar proteinosis
is_a: MONDO:0017034 {source="Orphanet:420259"} ! secondary interstitial lung disease in childhood and adulthood
property_value: exactMatch http://identifiers.org/snomedct/707510005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3873302
property_value: exactMatch Orphanet:420259

[Term]
id: MONDO:0018484
name: semicircular canal dehiscence syndrome
def: "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." [Orphanet:420402]
subset: ordo_clinical_syndrome {source="Orphanet:420402"}
synonym: "canal dehiscence syndrome" EXACT [DOID:0080193]
synonym: "Minor's syndrome" EXACT [DOID:0080193]
synonym: "Minorbs syndrome" EXACT [DOID:0080193]
synonym: "SCD syndrome" EXACT [Orphanet:420402]
synonym: "superior canal dehiscence" EXACT [DOID:0080193]
synonym: "superior canal syndrome" EXACT [DOID:0080193]
synonym: "superior semicircular canal dehiscence" RELATED [DOID:0080193]
synonym: "superior semicircular canal dehiscence syndrome" EXACT [DOID:0080193]
synonym: "third mobile window syndrome" EXACT [DOID:0080193]
xref: DOID:0080193 {source="MONDO:equivalentTo"}
xref: GARD:0010993 {source="MONDO:equivalentTo"}
xref: ICD10:H83.8 {source="ORDO:420402/ntbt", source="Orphanet:420402", source="DOID:0080193"}
xref: Orphanet:420402 {source="MONDO:equivalentTo"}
xref: SCTID:717799003 {source="MONDO:equivalentTo"}
is_a: MONDO:0024623 {source="Orphanet:420402"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch DOID:0080193
property_value: exactMatch http://identifiers.org/snomedct/717799003
property_value: exactMatch Orphanet:420402

[Term]
id: MONDO:0018485
name: glycogen storage disease due to acid maltase deficiency, late-onset
def: "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." [Orphanet:420429]
subset: ordo_clinical_subtype {source="Orphanet:420429"}
synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [Orphanet:420429]
synonym: "Alpha-1,4-glucosidase acid deficiency, late-onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type 2, late onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type 2, late-onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type II, late onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type II, late-onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type 2, late onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type 2, late-onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type II, late onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type II, late-onset" EXACT [Orphanet:420429]
synonym: "GSD due to acid maltase deficiency, late onset" EXACT [Orphanet:420429]
synonym: "GSD due to acid maltase deficiency, late-onset" EXACT [Orphanet:420429]
synonym: "GSD type 2, late onset" EXACT [Orphanet:420429]
synonym: "GSD type 2, late-onset" EXACT [Orphanet:420429]
synonym: "GSD type II, late onset" EXACT [Orphanet:420429]
synonym: "GSD type II, late-onset" EXACT [Orphanet:420429]
synonym: "Pompe disease, late onset" EXACT [Orphanet:420429]
synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429]
xref: ICD10:E74.0 {source="MONDO:subClassOf", source="ORDO:420429/attributed", source="ORDO:420429/ntbt", source="Orphanet:420429"}
xref: Orphanet:420429 {source="MONDO:equivalentTo"}
xref: SCTID:722343009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0342753 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C3888925 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:420429"}
is_a: MONDO:0009290 {source="MONDOLEX:0018485", source="Orphanet:420429"} ! glycogen storage disease II
property_value: exactMatch http://identifiers.org/snomedct/722343009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342753
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3888925
property_value: exactMatch Orphanet:420429

[Term]
id: MONDO:0018486
name: visual snow syndrome
def: "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects ( entopic phenomenon ), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image ( palinopsia ) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." [https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome]
subset: gard_rare {source="GARD:0012062"}
subset: ordo_disease {source="Orphanet:420556"}
synonym: "visual snow" RELATED [GARD:0012062]
xref: GARD:0012062 {source="MONDO:equivalentTo"}
xref: ICD10:H53.8 {source="ORDO:420556/ntbt", source="Orphanet:420556"}
xref: Orphanet:420556 {source="MONDO:equivalentTo"}
xref: UMLS:CN237477 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237477
property_value: exactMatch Orphanet:420556
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome xsd:anyURI {source="GARD:0012062"}

[Term]
id: MONDO:0018487
name: autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
subset: ordo_disease {source="Orphanet:420699"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:420699/attributed", source="ORDO:420699/ntbt", source="Orphanet:420699"}
xref: Orphanet:420699 {source="MONDO:equivalentTo"}
is_a: MONDO:0028226 ! autosomal recessive severe congenital neutropenia
property_value: exactMatch Orphanet:420699

[Term]
id: MONDO:0018488
name: rare genetic odontal or periodontal disorder
comment: May be obsoleted. The semantics of the ORDO class are not clear
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:420755"}
xref: Orphanet:420755 {source="MONDO:equivalentTo"}
xref: UMLS:CN237489 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019183 {source="Orphanet:420755"} ! inherited odontologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237489
property_value: exactMatch Orphanet:420755
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018489
name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea
def: "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." [Orphanet:420789]
subset: ordo_disease {source="Orphanet:420789"}
synonym: "anti-IgLON5 disease" EXACT [Orphanet:420789]
synonym: "anti-IgLON5 syndrome" EXACT [Orphanet:420789]
xref: ICD10:G04.8 {source="ORDO:420789/ntbt", source="Orphanet:420789"}
xref: Orphanet:420789 {source="MONDO:equivalentTo"}
xref: SCTID:765751002 {source="MONDO:equivalentTo"}
xref: UMLS:CN237490 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0003406 {source="Orphanet:420789"} ! sleep-wake disorder
is_a: MONDO:0005560 ! brain disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/765751002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237490
property_value: exactMatch Orphanet:420789

[Term]
id: MONDO:0018490
name: cono-spondylar dysplasia
def: "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." [Orphanet:420794]
subset: ordo_malformation_syndrome {source="Orphanet:420794"}
synonym: "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome" EXACT [Orphanet:420794]
xref: ICD10:Q77.7 {source="Orphanet:420794", source="ORDO:420794/attributed", source="ORDO:420794/ntbt"}
xref: Orphanet:420794 {source="MONDO:equivalentTo"}
xref: SCTID:766874001 {source="MONDO:equivalentTo"}
xref: UMLS:CN237491 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:420794", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:420794"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:420794"} ! malformation syndrome with short stature
is_a: MONDO:0016761 {source="Orphanet:420794"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/snomedct/766874001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237491
property_value: exactMatch Orphanet:420794

[Term]
id: MONDO:0018491
name: 3-phosphoglycerate dehydrogenase deficiency
subset: ordo_group_of_disorders {source="Orphanet:422519"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:422519 {source="MONDO:equivalentTo"}
xref: SCTID:303098002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0580190 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018162 {source="Orphanet:422519"} ! neurometabolic disorder due to serine deficiency
property_value: exactMatch http://identifiers.org/snomedct/303098002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0580190
property_value: exactMatch Orphanet:422519

[Term]
id: MONDO:0018492
name: hereditary clear cell renal cell carcinoma
alt_id: MONDO:0004137
def: "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." [NCIT:P378]
subset: ordo_disease {source="Orphanet:422526"}
synonym: "hereditary clear cell renal carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary clear cell renal cell adenocarcinoma" EXACT [Orphanet:422526]
synonym: "Hereditary clear cell renal cell cancer" EXACT [NCIT:C36260]
synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260]
synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260]
synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192]
xref: DOID:7192 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="ORDO:422526/attributed", source="ORDO:422526/ntbt", source="Orphanet:422526"}
xref: NCIT:C36260 {source="MONDO:equivalentTo", source="DOID:7192", source="exact-label-match"}
xref: Orphanet:422526 {source="MONDO:equivalentTo"}
xref: SCTID:764961009 {source="MONDO:equivalentTo"}
xref: UMLS:CN237493 {source="MONDO:equivalentTo"}
is_a: MONDO:0003008 {source="DOID:7192", source="MONDO:Redundant", source="NCIT:C36260", source="OWLReasoner:2017"} ! hereditary renal cell carcinoma
is_a: MONDO:0005005 {source="MONDO:Redundant", source="MONDOLEX:0018492", source="NCIT:C36260", source="OWLReasoner:2017"} ! clear cell renal carcinoma
is_a: MONDO:0017891 {source="Orphanet:422526"} ! inherited renal cancer-predisposing syndrome
intersection_of: MONDO:0005005 ! clear cell renal carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333985
property_value: exactMatch DOID:7192
property_value: exactMatch http://identifiers.org/snomedct/764961009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237493
property_value: exactMatch NCIT:C36260
property_value: exactMatch Orphanet:422526

[Term]
id: MONDO:0018493
name: malignant hyperthermia of anesthesia
def: "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." [Orphanet:423]
subset: clingen
subset: ordo_disease {source="Orphanet:423"}
synonym: "anesthesia related hyperthermia" EXACT [CSP2005:2871-4352, DOID:8545]
synonym: "hyperthermia of anesthesia" EXACT [Orphanet:423]
synonym: "malignant hyperpyrexia" EXACT [NCIT:C84869]
synonym: "malignant hyperpyrexia due to anesthesia" EXACT [DOID:8545, MTHICD9_2006:995.86]
synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous]
synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869]
xref: DOID:8545 {source="MONDO:equivalentTo"}
xref: HP:0002047 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:T88.3 {source="DOID:8545", source="Orphanet:423", source="ORDO:423/specific", source="ORDO:423/e"}
xref: ICD9:995.86 {source="DOID:8545"}
xref: MedDRA:10020844 {source="Orphanet:423", source="ORDO:423/e"}
xref: MESH:D008305 {source="DOID:8545", source="Orphanet:423", source="MONDO:equivalentTo", source="ORDO:423/e"}
xref: NCIT:C84869 {source="DOID:8545", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.30"}
xref: OMIMPS:145600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:423 {source="DOID:8545", source="MONDO:equivalentTo"}
xref: SCTID:405501007 {source="DOID:8545", source="MONDO:equivalentTo"}
xref: UMLS:C0024591 {source="DOID:8545", source="Orphanet:423", source="NCIT:C84869", source="MONDO:equivalentTo", source="ORDO:423/e"}
is_a: MONDO:0018753 {source="Orphanet:423"} ! rare disease with malignant hyperthermia
is_a: MONDO:0019119 {source="Orphanet:423"} ! muscular channelopathy
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84869"} ! syndromic disease
property_value: closeMatch http://identifiers.org/snomedct/111738008
property_value: closeMatch http://identifiers.org/snomedct/157762007
property_value: closeMatch http://identifiers.org/snomedct/213026003
property_value: closeMatch http://identifiers.org/snomedct/248453001
property_value: closeMatch http://identifiers.org/snomedct/269435009
property_value: closeMatch http://identifiers.org/snomedct/405500008
property_value: exactMatch DOID:8545
property_value: exactMatch http://identifiers.org/meddra/10020844
property_value: exactMatch http://identifiers.org/mesh/D008305
property_value: exactMatch http://identifiers.org/snomedct/405501007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024591
property_value: exactMatch NCIT:C84869
property_value: exactMatch Orphanet:423

[Term]
id: MONDO:0018494
name: microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
def: "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." [Orphanet:423306]
subset: ordo_malformation_syndrome {source="Orphanet:423306"}
xref: ICD10:Q87.1 {source="ORDO:423306/attributed", source="ORDO:423306/ntbt", source="Orphanet:423306"}
xref: Orphanet:423306 {source="MONDO:equivalentTo"}
xref: UMLS:CN237496 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:423306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:423306"} ! malformation syndrome with short stature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237496
property_value: exactMatch Orphanet:423306

[Term]
id: MONDO:0018495
name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
def: "#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." [Orphanet:423479]
subset: ordo_disease {source="Orphanet:423479"}
xref: ICD10:E79.8 {source="Orphanet:423479", source="ORDO:423479/attributed", source="ORDO:423479/ntbt"}
xref: Orphanet:423479 {source="MONDO:equivalentTo"}
xref: UMLS:CN237501 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015920 {source="Orphanet:423479"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:423479"} ! inherited retinal dystrophy
is_a: MONDO:0019236 {source="Orphanet:423479"} ! inborn disorder of purine metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237501
property_value: exactMatch Orphanet:423479

[Term]
id: MONDO:0018496
name: ARX-related encephalopathy-brain malformation spectrum
subset: ordo_group_of_disorders {source="Orphanet:423655"}
xref: Orphanet:423655 {source="MONDO:equivalentTo"}
is_a: MONDO:0015620 {source="Orphanet:423655"} ! syndromic urogenital tract malformation
is_a: MONDO:0015921 {source="Orphanet:423655"} ! ARX-related epileptic encephalopathy
is_a: MONDO:0017122 {source="Orphanet:423655"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 {source="Orphanet:423655"} ! X-linked syndromic intellectual disability
property_value: exactMatch Orphanet:423655

[Term]
id: MONDO:0018497
name: obsolete rare autonomic nervous system disorder
def: "Rare autonomic nervous system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423662"}
synonym: "rare autonomic nervous system disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:423662 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:423662
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001292
consider: UMLS:C1145628 {source="Orphanet:423662"}

[Term]
id: MONDO:0018498
name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect
subset: ordo_clinical_subtype {source="Orphanet:423693"}
synonym: "DORV with subaortic or doubly committed VSD" EXACT [Orphanet:423693]
xref: ICD10:Q20.1 {source="Orphanet:423693", source="ORDO:423693/attributed", source="ORDO:423693/ntbt"}
xref: Orphanet:423693 {source="MONDO:equivalentTo"}
is_a: MONDO:0018089 {source="MONDOLEX:0018498", source="Orphanet:423693"} ! double outlet right ventricle
property_value: exactMatch Orphanet:423693

[Term]
id: MONDO:0018499
name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
subset: ordo_clinical_subtype {source="Orphanet:423712"}
synonym: "DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy" EXACT [Orphanet:423712]
xref: ICD10:Q24.8 {source="Orphanet:423712", source="ORDO:423712/attributed", source="ORDO:423712/ntbt"}
xref: Orphanet:423712 {source="MONDO:equivalentTo"}
is_a: MONDO:0018089 {source="MONDOLEX:0018499", source="Orphanet:423712"} ! double outlet right ventricle
property_value: exactMatch Orphanet:423712

[Term]
id: MONDO:0018500
name: cutaneous larva migrans
def: "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." [Orphanet:423717]
subset: gard_rare {source="GARD:0001629"}
subset: ordo_disease {source="Orphanet:423717"}
synonym: "CLM" RELATED [GARD:0001629]
synonym: "creeping eruption" RELATED [GARD:0001629]
synonym: "dew itch" RELATED [GARD:0001629]
synonym: "ground itch" RELATED [GARD:0001629]
xref: GARD:0001629 {source="MONDO:equivalentTo"}
xref: ICD10:B76.9 {source="ORDO:423717/ntbt", source="Orphanet:423717"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D007815 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:423717 {source="MONDO:equivalentTo"}
xref: SCTID:19362000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005135 {source="Orphanet:423717"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D007815
property_value: exactMatch http://identifiers.org/snomedct/19362000
property_value: exactMatch Orphanet:423717
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans xsd:anyURI {source="GARD:0001629"}

[Term]
id: MONDO:0018501
name: obsolete rare carcinoma of stomach
def: "Rare stomach carcinoma." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423771"}
synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare, Orphanet:423771]
synonym: "rare stomach carcinoma" EXACT []
xref: Orphanet:423771 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:423771
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004950
consider: UMLS:C0699791 {source="MONDO:subClassOf", source="Orphanet:423771"}

[Term]
id: MONDO:0018502
name: hereditary gastric cancer
def: "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms)." [Orphanet:423776]
subset: ordo_group_of_disorders {source="Orphanet:423776"}
synonym: "hereditary cancer of stomach" EXACT [Orphanet:423776]
synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:423776 {source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="Orphanet:423776"} ! gastric carcinoma
is_a: MONDO:0017128 ! inherited digestive tract tumor
intersection_of: MONDO:0001056 ! gastric cancer
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:423776

[Term]
id: MONDO:0018503
name: carcinoma of stomach, salivary gland type
subset: ordo_disease {source="Orphanet:423781"}
synonym: "gastric carcinoma, salivary gland type" EXACT [Orphanet:423781]
xref: ICD10:C16.0 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.1 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.2 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.3 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.4 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.5 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.6 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: ICD10:C16.8 {source="ORDO:423781/nd", source="Orphanet:423781"}
xref: Orphanet:423781 {source="MONDO:equivalentTo"}
xref: UMLS:CN237508 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004950 {source="Orphanet:423781"} ! gastric carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237508
property_value: exactMatch Orphanet:423781

[Term]
id: MONDO:0018504
name: undifferentiated carcinoma of stomach
def: "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:423786"}
synonym: "anaplastic carcinoma of stomach" EXACT [NCIT:C5476]
synonym: "anaplastic carcinoma of the stomach" EXACT [NCIT:C5476]
synonym: "anaplastic gastric carcinoma" EXACT [NCIT:C5476]
synonym: "Gastric undifferentiated carcinoma" EXACT [NCIT:C5476]
synonym: "Gastric undifferentiated carcinoma" RELATED [NCIT:C5476]
synonym: "stomach undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of stomach" EXACT [NCIT:C5476]
synonym: "undifferentiated carcinoma of the stomach" EXACT [NCIT:C5476]
synonym: "undifferentiated gastric (stomach) cancer" EXACT [NCIT:C5476]
synonym: "undifferentiated gastric carcinoma" EXACT [NCIT:C5476, Orphanet:423786]
synonym: "undifferentiated stomach adenocarcinoma" RELATED [ONCOTREE:USTAD]
xref: ICD10:C16.0 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.1 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.2 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.3 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.4 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.5 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.6 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: ICD10:C16.8 {source="Orphanet:423786", source="ORDO:423786/nd"}
xref: NCIT:C5476 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: ONCOTREE:USTAD {source="MONDO:equivalentTo"}
xref: Orphanet:423786 {source="MONDO:equivalentTo"}
xref: SCTID:766757006 {source="MONDO:equivalentTo"}
xref: UMLS:C1336858 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5476"}
xref: UMLS:CN237509 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004950 {source="MONDO:Redundant", source="NCIT:C5476", source="Orphanet:423786", source="indirect"} ! gastric carcinoma
is_a: MONDO:0005617 {source="MONDO:Redundant", source="MONDOLEX:0018504", source="NCIT:C5476"} ! undifferentiated carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/766757006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336858
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237509
property_value: exactMatch NCIT:C5476
property_value: exactMatch Orphanet:423786

[Term]
id: MONDO:0018505
name: obsolete rare tumor of small intestine
def: "Any of the forms of small intestine neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423793"}
synonym: "rare small intestine neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare tumor of small bowel" EXACT [Orphanet:423793]
xref: Orphanet:423793 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN237510 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237510
property_value: exactMatch Orphanet:423793
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004251

[Term]
id: MONDO:0018506
name: mesenchymal tumor of small intestine
subset: ordo_group_of_disorders {source="Orphanet:423798"}
synonym: "mesenchymal tumor of small bowel" EXACT [Orphanet:423798]
xref: Orphanet:423798 {source="MONDO:equivalentTo"}
xref: UMLS:CN237511 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004251 {source="Orphanet:423798"} ! small intestine neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0018505"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237511
property_value: exactMatch Orphanet:423798

[Term]
id: MONDO:0018507
name: microcephaly-complex motor and sensory axonal neuropathy syndrome
def: "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." [Orphanet:423894]
subset: ordo_disease {source="Orphanet:423894"}
xref: ICD10:G60.0 {source="Orphanet:423894", source="ORDO:423894/attributed", source="ORDO:423894/ntbt"}
xref: Orphanet:423894 {source="MONDO:equivalentTo"}
xref: UMLS:CN237512 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019601 {source="Orphanet:423894"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237512
property_value: exactMatch Orphanet:423894

[Term]
id: MONDO:0018508
name: obsolete rare carcinoma of small intestine
def: "Any of the forms of small intestine carcinoma that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423957"}
synonym: "rare carcinoma of small bowel" EXACT [Orphanet:423957]
synonym: "rare small intestine carcinoma" EXACT [MONDO:patterns/rare]
xref: Orphanet:423957 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:423957
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005522
consider: UMLS:C0238196 {source="Orphanet:423957"}

[Term]
id: MONDO:0018509
name: squamous cell carcinoma of the small intestine
def: "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." [NCIT:C43534]
subset: ordo_disease {source="Orphanet:423968"}
synonym: "small intestinal squamous cell cancer" EXACT [NCIT:C43534]
synonym: "small intestinal squamous cell carcinoma" EXACT [NCIT:C43534]
synonym: "small intestine squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of the small bowel" EXACT [Orphanet:423968]
xref: ICD10:C17.0 {source="ORDO:423968/nd", source="Orphanet:423968"}
xref: ICD10:C17.1 {source="ORDO:423968/nd", source="Orphanet:423968"}
xref: ICD10:C17.2 {source="ORDO:423968/nd", source="Orphanet:423968"}
xref: ICD10:C17.3 {source="ORDO:423968/nd", source="Orphanet:423968"}
xref: ICD10:C17.8 {source="ORDO:423968/nd", source="Orphanet:423968"}
xref: NCIT:C43534 {source="MONDO:equivalentTo"}
xref: Orphanet:423968 {source="MONDO:equivalentTo"}
xref: UMLS:C1710111 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43534"}
xref: UMLS:CN237514 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="MONDOLEX:0018509", source="NCIT:C43534"} ! squamous cell carcinoma
is_a: MONDO:0005522 {source="MONDO:Redundant", source="NCIT:C43534", source="Orphanet:423968", source="indirect"} ! small intestine carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018508"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237514
property_value: exactMatch NCIT:C43534
property_value: exactMatch Orphanet:423968

[Term]
id: MONDO:0018510
name: small intestine neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5803]
subset: ordo_group_of_disorders {source="Orphanet:423975"}
synonym: "NET of the small intestine" EXACT [Orphanet:423975]
synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975]
synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975]
synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975]
synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803]
synonym: "small intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803]
synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: DOID:4434 {source="MONDO:equivalentTo"}
xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"}
xref: Orphanet:423975 {source="MONDO:equivalentTo"}
xref: UMLS:C1336005 {source="DOID:4434", source="MONDO:equivalentTo", source="NCIT:C5803"}
xref: UMLS:CN237515 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002883 {source="DOID:4434", source="MONDO:Redundant", source="NCIT:C5803"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0018539 {source="Orphanet:423975"} ! rare epithelial tumor of small intestine
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:4434"} ! small intestine cancer
property_value: exactMatch DOID:4434
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237515
property_value: exactMatch NCIT:C5803
property_value: exactMatch Orphanet:423975

[Term]
id: MONDO:0018511
name: epithelial tumor of the appendix
def: "A epithelial neoplasm that involves the vermiform appendix." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:423982"}
synonym: "appendiceal epithelial tumor" EXACT [Orphanet:423982]
synonym: "vermiform appendix epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:423982 {source="MONDO:equivalentTo"}
xref: UMLS:CN237516 {source="MONDO:equivalentTo"}
is_a: MONDO:0001236 ! appendiceal neoplasm
is_a: MONDO:0024479 ! epithelial tumor of colon
relationship: has_modifier MONDO:0021136 {source="MONDO:0015186"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237516
property_value: exactMatch Orphanet:423982

[Term]
id: MONDO:0018512
name: obsolete rare epithelial tumor of colon
def: "Any of the forms of epithelial tumor of colon that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423991"}
synonym: "rare epithelial tumor of colon" EXACT [MONDO:patterns/rare]
xref: Orphanet:423991 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN237517 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237517
property_value: exactMatch Orphanet:423991
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024479

[Term]
id: MONDO:0018513
name: squamous cell carcinoma of colon
def: "A squamous cell carcinoma that involves the colon." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:423994"}
synonym: "colon epidermoid carcinoma" EXACT [NCIT:C5490]
synonym: "colon squamous cell cancer" EXACT [NCIT:C5490]
synonym: "colon squamous cell carcinoma" EXACT [MONDO:0003485, MONDO:patterns/location, NCIT:C5490]
synonym: "colonic epidermoid carcinoma" EXACT [DOID:5519, NCIT:C5490]
synonym: "colonic squamous cell carcinoma" EXACT [NCIT:C5490]
synonym: "epidermoid carcinoma of colon" EXACT [NCIT:C5490]
synonym: "epidermoid carcinoma of the colon" EXACT [NCIT:C5490]
synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490]
synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490]
synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490]
xref: DOID:5519 {source="MONDO:equivalentTo"}
xref: ICD10:C18.0 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.2 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.3 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.4 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.5 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.6 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.7 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.8 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: ICD10:C18.9 {source="Orphanet:423994", source="ORDO:423994/nd"}
xref: NCIT:C5490 {source="MONDO:equivalentTo", source="DOID:5519"}
xref: Orphanet:423994 {source="MONDO:equivalentTo"}
xref: SCTID:766981007 {source="MONDO:equivalentTo"}
xref: UMLS:C1333100 {source="MONDO:equivalentTo", source="DOID:5519", source="NCIT:C5490"}
xref: UMLS:CN237518 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002032 {source="DOID:5519", source="MONDO:Redundant", source="MONDOLEX:0018513", source="NCIT:C5490"} ! colon carcinoma
is_a: MONDO:0006165 {source="MONDO:Redundant", source="NCIT:C5490", source="OWLReasoner:2017"} ! colorectal squamous cell carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018512"} ! rare
property_value: exactMatch DOID:5519
property_value: exactMatch http://identifiers.org/snomedct/766981007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237518
property_value: exactMatch NCIT:C5490
property_value: exactMatch Orphanet:423994

[Term]
id: MONDO:0018514
name: obsolete rare epithelial tumor of rectum
def: "Any of the forms of epithelial neoplasm of rectum that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:423998"}
synonym: "rare epithelial neoplasm of rectum" EXACT [MONDO:patterns/rare]
synonym: "rare rectal epithelial tumor" EXACT [Orphanet:423998]
xref: Orphanet:423998 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN237519 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237519
property_value: exactMatch Orphanet:423998
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024476

[Term]
id: MONDO:0018515
name: squamous cell carcinoma of rectum
def: "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C5554]
subset: ordo_disease {source="Orphanet:424002"}
synonym: "rectal squamous carcinoma" EXACT [NCIT:C5554]
synonym: "rectal squamous cell cancer" EXACT [NCIT:C5554]
synonym: "rectal squamous cell carcinoma" EXACT [NCIT:C5554, Orphanet:424002]
synonym: "rectum squamous cell carcinoma" EXACT [MONDO:0003491, MONDO:patterns/location]
synonym: "squamous carcinoma of rectum" EXACT [DOID:5528, NCIT:C5554]
synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554]
synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554]
synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554]
xref: DOID:5528 {source="MONDO:equivalentTo"}
xref: ICD10:C20 {source="ORDO:424002/ntbt", source="Orphanet:424002"}
xref: NCIT:C5554 {source="MONDO:equivalentTo", source="DOID:5528", source="MONDO:kboom-pr-1.00/0.84/11.10"}
xref: Orphanet:424002 {source="MONDO:equivalentTo"}
xref: SCTID:766979005 {source="MONDO:equivalentTo"}
xref: UMLS:C1335690 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5554", source="DOID:5528", source="Orphanet:424002"}
is_a: MONDO:0006165 {source="MONDO:Redundant", source="NCIT:C5554"} ! colorectal squamous cell carcinoma
is_a: MONDO:0044937 ! rectal carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0018514"} ! rare
property_value: exactMatch DOID:5528
property_value: exactMatch http://identifiers.org/snomedct/766979005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335690
property_value: exactMatch NCIT:C5554
property_value: exactMatch Orphanet:424002

[Term]
id: MONDO:0018516
name: epithelial tumor of anal canal
def: "A epithelial neoplasm that involves the anal canal." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:424010"}
synonym: "anal canal epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:424010 {source="MONDO:equivalentTo"}
xref: UMLS:CN237521 {source="MONDO:equivalentTo"}
is_a: MONDO:0005626 ! epithelial neoplasm
is_a: MONDO:0021118 {source="Orphanet:424010"} ! intestinal neoplasm
is_a: MONDO:0024634 ! large intestine disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015186"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237521
property_value: exactMatch Orphanet:424010

[Term]
id: MONDO:0018517
name: obsolete obsolete carcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0007108

[Term]
id: MONDO:0018518
name: obsolete adenocarcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0002735

[Term]
id: MONDO:0018519
name: obsolete squamous cell carcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0004132

[Term]
id: MONDO:0018520
name: rare epithelial tumor of pancreas
comment: Editor note: TODO
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:424033"}
synonym: "rare pancreatic epithelial tumor" EXACT [Orphanet:424033]
xref: Orphanet:424033 {source="MONDO:equivalentTo"}
xref: UMLS:CN237523 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021040 {source="Orphanet:424033"} ! pancreatic neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015882"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237523
property_value: exactMatch Orphanet:424033
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018521
name: squamous cell carcinoma of pancreas
def: "A squamous cell carcinoma that involves the pancreas." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:424039"}
synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039]
synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039]
xref: DOID:0080323 {source="MONDO:equivalentTo"}
xref: ICD10:C25.0 {source="Orphanet:424039", source="ORDO:424039/nd"}
xref: ICD10:C25.1 {source="Orphanet:424039", source="ORDO:424039/nd"}
xref: ICD10:C25.2 {source="Orphanet:424039", source="ORDO:424039/nd"}
xref: ICD10:C25.7 {source="Orphanet:424039", source="ORDO:424039/nd"}
xref: ICD10:C25.8 {source="Orphanet:424039", source="ORDO:424039/nd"}
xref: Orphanet:424039 {source="MONDO:equivalentTo"}
xref: UMLS:C2675993 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN237524 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 ! squamous cell carcinoma
is_a: MONDO:0005192 {source="Orphanet:424039"} ! exocrine pancreatic carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch DOID:0080323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675993
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237524
property_value: exactMatch Orphanet:424039

[Term]
id: MONDO:0018522
name: obsolete acinar cell carcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0006346

[Term]
id: MONDO:0018523
name: pancreatic mucinous cystadenoma
alt_id: MONDO:0004347
def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." [NCIT:C5718]
subset: ordo_disease {source="Orphanet:424053"}
synonym: "colloid cystadenoma of pancreas" RELATED [NCIT:C5718]
synonym: "colloid cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "colloidal cystadenoma of pancreas" RELATED [NCIT:C5718]
synonym: "colloidal cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "mucinous cystadenocarcinoma of the pancreas" RELATED [Orphanet:424053]
synonym: "mucinous cystadenoma of pancreas" EXACT [DOID:7735, NCIT:C5718]
synonym: "mucinous cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "pancreas mucinous cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic colloid cystadenoma" RELATED [NCIT:C5718]
synonym: "pancreatic colloidal cystadenoma" RELATED [NCIT:C5718]
synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [Orphanet:424053]
synonym: "pancreatic mucinous cystadenoma" EXACT [MONDO:0004157, NCIT:C5718]
synonym: "pancreatic mucinous cystic neoplasm" RELATED [DOID:7235]
xref: DOID:7235 {source="MONDO:equivalentTo"}
xref: DOID:7735 {source="MONDO:equivalentTo"}
xref: ICD10:C25.0 {source="ORDO:424053/nd", source="Orphanet:424053"}
xref: ICD10:C25.1 {source="ORDO:424053/nd", source="Orphanet:424053"}
xref: ICD10:C25.2 {source="ORDO:424053/nd", source="Orphanet:424053"}
xref: ICD10:C25.7 {source="ORDO:424053/nd", source="Orphanet:424053"}
xref: ICD10:C25.8 {source="ORDO:424053/nd", source="Orphanet:424053"}
xref: NCIT:C5718 {source="DesignPattern", source="DOID:7735", source="MONDO:equivalentTo"}
xref: Orphanet:424053 {source="MONDO:equivalentTo"}
is_a: MONDO:0002809 {source="DOID:7235", source="DOID:7735", source="MONDO:Redundant", source="MONDOLEX:0018523"} ! pancreatic cystadenoma
is_a: MONDO:0005192 {source="Orphanet:424053"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006859 ! mucinous cystadenoma
is_a: MONDO:0020596 ! mucin-producing carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335309
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518872
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2063873
property_value: exactMatch DOID:7235
property_value: exactMatch DOID:7735
property_value: exactMatch NCIT:C5718
property_value: exactMatch Orphanet:424053

[Term]
id: MONDO:0018524
name: obsolete intraductal papillary mucinous carcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0004285

[Term]
id: MONDO:0018525
name: solid pseudopapillary carcinoma of pancreas
def: "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues." [NCIT:C5728]
subset: ordo_disease {source="Orphanet:424065"}
synonym: "pancreatic solid pseudopapillary carcinoma" EXACT [DOID:6827, MONDO:0004003, NCIT:C5728, Orphanet:424065]
synonym: "solid pseudopapillary carcinoma of pancreas" EXACT [NCIT:C5728]
synonym: "solid pseudopapillary carcinoma of the pancreas" EXACT [NCIT:C5728]
synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [Orphanet:424065]
xref: DOID:6827 {source="MONDO:equivalentTo"}
xref: EFO:1000542 {source="MONDO:equivalentTo"}
xref: ICD10:C25.0 {source="Orphanet:424065", source="ORDO:424065/nd"}
xref: ICD10:C25.1 {source="Orphanet:424065", source="ORDO:424065/nd"}
xref: ICD10:C25.2 {source="Orphanet:424065", source="ORDO:424065/nd"}
xref: ICD10:C25.7 {source="Orphanet:424065", source="ORDO:424065/nd"}
xref: ICD10:C25.8 {source="Orphanet:424065", source="ORDO:424065/nd"}
xref: ICDO:8452/3 {source="NCIT:C5728"}
xref: NCIT:C5728 {source="MONDO:equivalentTo", source="DOID:6827"}
xref: Orphanet:424065 {source="MONDO:equivalentTo"}
xref: UMLS:C1336029 {source="NCIT:C5728", source="MONDO:equivalentTo", source="DOID:6827"}
is_a: MONDO:0005192 {source="DOID:6827", source="Orphanet:424065", source="indirect"} ! exocrine pancreatic carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch DOID:6827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336029
property_value: exactMatch NCIT:C5728
property_value: exactMatch Orphanet:424065

[Term]
id: MONDO:0018526
name: obsolete serous cystadenocarcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0003630

[Term]
id: MONDO:0018527
name: osteoclastic giant cell tumor of pancreas
comment: Editor note: consider merging with MONDO:0006479
subset: ordo_disease {source="Orphanet:424080"}
synonym: "OGCT of pancreas" EXACT [Orphanet:424080]
synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080]
synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080]
synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080]
xref: ICD10:C25.0 {source="Orphanet:424080", source="ORDO:424080/nd"}
xref: ICD10:C25.1 {source="Orphanet:424080", source="ORDO:424080/nd"}
xref: ICD10:C25.2 {source="Orphanet:424080", source="ORDO:424080/nd"}
xref: ICD10:C25.7 {source="Orphanet:424080", source="ORDO:424080/nd"}
xref: ICD10:C25.8 {source="Orphanet:424080", source="ORDO:424080/nd"}
xref: Orphanet:424080 {source="MONDO:equivalentTo"}
xref: UMLS:CN237530 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005192 {source="Orphanet:424080"} ! exocrine pancreatic carcinoma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237530
property_value: exactMatch Orphanet:424080

[Term]
id: MONDO:0018528
name: congenital myopathy with myasthenic-like onset
def: "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." [Orphanet:424107]
subset: ordo_disease {source="Orphanet:424107"}
xref: ICD10:G71.2 {source="Orphanet:424107", source="ORDO:424107/attributed", source="ORDO:424107/ntbt"}
xref: Orphanet:424107 {source="MONDO:equivalentTo"}
xref: SCTID:763315005 {source="MONDO:equivalentTo"}
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
property_value: exactMatch http://identifiers.org/snomedct/763315005
property_value: exactMatch Orphanet:424107

[Term]
id: MONDO:0018529
name: qualitative or quantitative defects of Torsin-1A-interacting protein 1
subset: ordo_group_of_disorders {source="Orphanet:424925"}
synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925]
xref: Orphanet:424925 {source="MONDO:equivalentTo"}
is_a: MONDO:0016139 {source="Orphanet:424925"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: exactMatch Orphanet:424925

[Term]
id: MONDO:0018530
name: rare epithelial tumor of liver and intrahepatic biliary tract
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:424933"}
synonym: "rare epithelial tumor of liver and IBT" EXACT [Orphanet:424933]
xref: Orphanet:424933 {source="MONDO:equivalentTo"}
xref: UMLS:CN237535 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 ! epithelial neoplasm
is_a: MONDO:0024477 {source="MONDO:Redundant", source="Orphanet:424933"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017632"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237535
property_value: exactMatch Orphanet:424933
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018531
name: carcinoma of liver and intrahepatic biliary tract
def: "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." [NCIT:C7927]
comment: Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper
subset: ordo_group_of_disorders {source="Orphanet:424936"}
synonym: "cancer of liver" EXACT [NCIT:C7927]
synonym: "cancer of liver and intrahepatic biliary tract" EXACT [NCIT:C7927]
synonym: "cancer of the liver" EXACT [NCIT:C7927]
synonym: "cancer of the liver and intrahepatic biliary tract" EXACT [NCIT:C7927]
synonym: "carcinoma of liver" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of liver and IBT" EXACT [Orphanet:424936]
synonym: "hepatic cancer" EXACT [NCIT:C7927]
synonym: "hepatocellular carcinoma plus intrahepatic cholangiocarcinoma" RELATED [ONCOTREE:HCCIHCH]
synonym: "liver and hepatobiliary cancer, NOS" RELATED EXCLUDE [NCIT:C7927]
synonym: "liver and intrahepatic bile duct cancer" EXACT [NCIT:C7927]
synonym: "liver and intrahepatic bile duct carcinoma" EXACT [NCIT:C7927]
synonym: "liver and intrahepatic biliary tract cancer" EXACT [NCIT:C7927]
synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C7927]
synonym: "liver cancer" EXACT [NCIT:C7927]
synonym: "liver carcinoma" EXACT [MONDO:cjm]
synonym: "liver/hepatobiliary cancer" EXACT [NCIT:C7927]
synonym: "primary liver carcinoma" EXACT [NCIT:C7927]
xref: NCIT:C7927 {source="MONDO:equivalentTo"}
xref: ONCOTREE:HCCIHCH {source="MONDO:equivalentTo"}
xref: Orphanet:424936 {source="MONDO:equivalentTo"}
xref: UMLS:C0279000 {source="MONDO:equivalentTo", source="NCIT:C7927"}
is_a: MONDO:0002691 ! liver cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C7927"} ! digestive system carcinoma
is_a: MONDO:0018530 {source="MONDO:Entailed", source="Orphanet:424936"} ! rare epithelial tumor of liver and intrahepatic biliary tract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279000
property_value: exactMatch NCIT:C7927
property_value: exactMatch Orphanet:424936

[Term]
id: MONDO:0018532
name: adenocarcinoma of liver and intrahepatic biliary tract
subset: ordo_disease {source="Orphanet:424943"}
synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943]
synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943]
synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943]
xref: ICD10:C22.0 {source="Orphanet:424943", source="ORDO:424943/nd"}
xref: ICD10:C22.1 {source="Orphanet:424943", source="ORDO:424943/nd"}
xref: Orphanet:424943 {source="MONDO:equivalentTo"}
xref: UMLS:CN242181 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 ! adenocarcinoma
is_a: MONDO:0018531 {source="MONDO:Entailed", source="MONDOLEX:0018532", source="Orphanet:424943"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242181
property_value: exactMatch Orphanet:424943

[Term]
id: MONDO:0018533
name: undifferentiated carcinoma of liver and intrahepatic biliary tract
def: "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." [Orphanet:424970]
subset: ordo_disease {source="Orphanet:424970"}
synonym: "undifferentiated carcinoma of liver and IBT" EXACT [Orphanet:424970]
xref: ICD10:C22.0 {source="ORDO:424970/nd", source="Orphanet:424970"}
xref: ICD10:C22.1 {source="ORDO:424970/nd", source="Orphanet:424970"}
xref: ICD10:C22.7 {source="ORDO:424970/nd", source="Orphanet:424970"}
xref: Orphanet:424970 {source="MONDO:equivalentTo"}
xref: UMLS:CN242153 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005617 ! undifferentiated carcinoma
is_a: MONDO:0018531 {source="MONDO:Entailed", source="MONDOLEX:0018533", source="Orphanet:424970"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242153
property_value: exactMatch Orphanet:424970

[Term]
id: MONDO:0018534
name: squamous cell carcinoma of liver and intrahepatic biliary tract
def: "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." [Orphanet:424975]
subset: ordo_disease {source="Orphanet:424975"}
synonym: "squamous cell carcinoma of liver and IBT" EXACT [Orphanet:424975]
xref: ICD10:C22.0 {source="Orphanet:424975", source="ORDO:424975/nd"}
xref: ICD10:C22.1 {source="Orphanet:424975", source="ORDO:424975/nd"}
xref: Orphanet:424975 {source="MONDO:equivalentTo"}
xref: UMLS:CN242131 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005096 ! squamous cell carcinoma
is_a: MONDO:0018531 {source="MONDO:Entailed", source="MONDOLEX:0018534", source="Orphanet:424975"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242131
property_value: exactMatch Orphanet:424975

[Term]
id: MONDO:0018535
name: biliary cystadenocarcinoma
def: "A cystadenocarcinoma that involves the biliary tree." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:424982"}
synonym: "intrahepatic bile duct cystadenocarcinoma" EXACT [Orphanet:424982]
xref: ICD10:C22.1 {source="ORDO:424982/ntbt", source="Orphanet:424982"}
xref: Orphanet:424982 {source="MONDO:equivalentTo"}
xref: UMLS:C2064409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003060 ! biliary tract cancer
is_a: MONDO:0005596 ! cystadenocarcinoma
is_a: MONDO:0018532 ! adenocarcinoma of liver and intrahepatic biliary tract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2064409
property_value: exactMatch Orphanet:424982

[Term]
id: MONDO:0018536
name: adenocarcinoma of gallbladder and extrahepatic biliary tract
def: "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." [Orphanet:424991]
subset: ordo_disease {source="Orphanet:424991"}
synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991]
synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991]
synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991]
xref: ICD10:C23 {source="ORDO:424991/nd", source="Orphanet:424991"}
xref: ICD10:C24.0 {source="ORDO:424991/nd", source="Orphanet:424991"}
xref: ICD10:C24.1 {source="ORDO:424991/nd", source="Orphanet:424991"}
xref: ICD10:C24.8 {source="ORDO:424991/nd", source="Orphanet:424991"}
xref: ICD10:C28.9 {source="ORDO:424991/nd", source="Orphanet:424991"}
xref: Orphanet:424991 {source="MONDO:equivalentTo"}
xref: SCTID:765741003 {source="MONDO:equivalentTo"}
xref: UMLS:CN237537 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002665 ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424991"} ! carcinoma of gallbladder and extrahepatic biliary tract
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract
property_value: exactMatch http://identifiers.org/snomedct/765741003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237537
property_value: exactMatch Orphanet:424991

[Term]
id: MONDO:0018537
name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract
def: "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." [Orphanet:424996]
subset: ordo_disease {source="Orphanet:424996"}
synonym: "squamous cell carcinoma of gallblader and EBT" EXACT [Orphanet:424996]
xref: ICD10:C23 {source="Orphanet:424996", source="ORDO:424996/nd"}
xref: ICD10:C24.0 {source="Orphanet:424996", source="ORDO:424996/nd"}
xref: ICD10:C24.1 {source="Orphanet:424996", source="ORDO:424996/nd"}
xref: ICD10:C24.8 {source="Orphanet:424996", source="ORDO:424996/nd"}
xref: ICD10:C24.9 {source="Orphanet:424996", source="ORDO:424996/nd"}
xref: Orphanet:424996 {source="MONDO:equivalentTo"}
xref: SCTID:766978002 {source="MONDO:equivalentTo"}
xref: UMLS:CN237538 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006203 ! extrahepatic bile duct squamous cell carcinoma
is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424996"} ! carcinoma of gallbladder and extrahepatic biliary tract
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract
property_value: exactMatch http://identifiers.org/snomedct/766978002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237538
property_value: exactMatch Orphanet:424996

[Term]
id: MONDO:0018538
name: inherited digestive cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:425003"}
xref: Orphanet:425003 {source="MONDO:equivalentTo"}
xref: UMLS:CN237539 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:425003"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: disease_has_feature MONDO:0002516 ! digestive system cancer
relationship: disease_has_feature MONDO:0002516 ! digestive system cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237539
property_value: exactMatch Orphanet:425003

[Term]
id: MONDO:0018539
name: rare epithelial tumor of small intestine
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:425368"}
synonym: "rare epithelial tumor of small bowel" EXACT [Orphanet:425368]
xref: Orphanet:425368 {source="MONDO:equivalentTo"}
xref: UMLS:CN237541 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004251 {source="Orphanet:425368"} ! small intestine neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0018505"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237541
property_value: exactMatch Orphanet:425368
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018540
name: PFAPA syndrome
def: "PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." [Orphanet:42642]
comment: Editor note: TODO check NCIT assigns this to be autoimmune but this is likely a mistake
subset: ordo_disease {source="Orphanet:42642"}
synonym: "Marshall syndrome" EXACT [NCIT:C116917]
synonym: "Marshall syndrome with periodic fever" EXACT [Orphanet:42642]
synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [GARD:0005657]
synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" EXACT [NCIT:C116917]
synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642]
synonym: "PFAPA" EXACT [GARD:0005657]
xref: GARD:0005657 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E85.0 {source="Orphanet:42642", source="ORDO:42642/ntbt"}
xref: NCIT:C116917 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.76/1.21"}
xref: Orphanet:42642 {source="MONDO:equivalentTo"}
xref: SCTID:717231003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37"}
xref: UMLS:C4082167 {source="NCIT:C116917", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205072 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007179 {source="NCIT:C116917"} ! autoimmune disease
is_a: MONDO:0015158 {source="Orphanet:42642"} ! unexplained periodic fever syndrome
relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C116917"} ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2938935
property_value: exactMatch http://identifiers.org/snomedct/717231003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4082167
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205072
property_value: exactMatch NCIT:C116917
property_value: exactMatch Orphanet:42642

[Term]
id: MONDO:0018541
name: familial hypoaldosteronism
def: "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." [Orphanet:427]
subset: ordo_disease {source="Orphanet:427"}
xref: ICD10:E27.4 {source="Orphanet:427", source="ORDO:427/attributed", source="ORDO:427/ntbt"}
xref: OMIMPS:103900 {source="MONDO:equivalentTo"}
xref: Orphanet:427 {source="MONDO:equivalentTo"}
xref: SCTID:715343000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4275180 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205074 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015900 {source="Orphanet:427"} ! hypoaldosteronism disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/715343000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205074
property_value: exactMatch Orphanet:427

[Term]
id: MONDO:0018542
name: severe congenital neutropenia
subset: ordo_group_of_disorders {source="Orphanet:42738"}
synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700]
synonym: "SCN" EXACT []
xref: DOID:0050590 {source="MONDO:equivalentTo"}
xref: ICD10:D70 {source="MONDO:subClassOf", source="ORDO:42738/attributed", source="ORDO:42738/ntbt", source="Orphanet:42738", source="DOID:0050590"}
xref: ICD9:288.01 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10052210 {source="ORDO:42738/e", source="Orphanet:42738"}
xref: OMIMPS:202700 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:42738 {source="MONDO:equivalentTo"}
xref: SCTID:89655007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
is_a: MONDO:0015134 {source="Orphanet:42738"} ! constitutional neutropenia
property_value: exactMatch DOID:0050590
property_value: exactMatch http://identifiers.org/meddra/10052210
property_value: exactMatch http://identifiers.org/mesh/C537592
property_value: exactMatch http://identifiers.org/snomedct/89655007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853118
property_value: exactMatch Orphanet:42738

[Term]
id: MONDO:0018543
name: autosomal dominant hypocalcemia
def: "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." [Orphanet:428]
subset: gard_rare {source="GARD:0002877"}
subset: ordo_clinical_subtype {source="Orphanet:428"}
synonym: "AD hypocalcemia" EXACT [Orphanet:428]
synonym: "HYPOC" RELATED EXCLUDE [DOID:0090109]
synonym: "hypocalcemia" BROAD [OMIMPS:601198]
synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877]
xref: DOID:0090109 {source="MONDO:equivalentTo"}
xref: GARD:0002877 {source="MONDO:equivalentTo", source="DOID:0090109"}
xref: ICD10:E20.8 {source="Orphanet:428", source="ORDO:428/attributed", source="ORDO:428/ntbt", source="DOID:0090109"}
xref: OMIMPS:601198 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0090109"}
xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"}
xref: SCTID:711152006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.67/0.22"}
xref: UMLS:CN205077 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0005557 {source="DOID:0090109", source="Orphanet:428/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! calcium metabolic disease
is_a: MONDO:0016390 {source="Orphanet:428", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial isolated hypoparathyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342345
property_value: exactMatch DOID:0090109
property_value: exactMatch http://identifiers.org/snomedct/711152006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205077
property_value: exactMatch Orphanet:428
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant xsd:anyURI {source="GARD:0002877"}

[Term]
id: MONDO:0018544
name: X-linked adrenoleukodystrophy
def: "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." [Orphanet:43]
subset: ordo_disease {source="Orphanet:43"}
synonym: "adrenoleukodystrophy" RELATED [DOID:10588]
synonym: "adrenoleukodystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "ALD" EXACT [CSP2005:4001-0003, DOID:10588, Orphanet:43]
synonym: "Bronze-Schilder disease" EXACT [DOID:10588]
synonym: "diffuse cerebral sclerosis of Schilder" EXACT [DOID:10588]
synonym: "diffuse sclerosis" EXACT [CSP2005:2042-2215, DOID:10588]
synonym: "encephalitis periaxialis concentrica" EXACT [DOID:10588]
synonym: "encephalitis periaxialis, Schilder's" EXACT [DOID:10588, MTHICD9_2006:341.1]
synonym: "Schilder disease" EXACT EXCLUDE [DOID:10588]
synonym: "Schilder's disease" EXACT EXCLUDE [DOID:10588]
synonym: "Siemerling-Creutzfeldt disease" EXACT [DOID:10588]
synonym: "sudanophilic cerebral sclerosis" EXACT [DOID:10588]
synonym: "X-ALD" EXACT [Orphanet:43]
synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588, MTHICD9_2006:277.86]
synonym: "X-linked ALD" EXACT [Orphanet:43]
xref: DOID:10588 {source="MONDO:equivalentTo"}
xref: GARD:0005758 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.3 {source="Orphanet:43", source="ORDO:43/inclusion", source="ORDO:43/ntbt"}
xref: ICD10:E71.52 {source="DOID:10588"}
xref: ICD10:E71.529 {source="DOID:10588"}
xref: ICD10:G37.0 {source="DOID:10588"}
xref: ICD9:341.1 {source="DOID:10588", source="MONDO:relatedTo"}
xref: MedDRA:10051260 {source="Orphanet:43", source="ORDO:43/e"}
xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="ORDO:43/e", source="MONDO:equivalentTo"}
xref: NCIT:C61252 {source="DOID:10588", source="MONDO:equivalentTo"}
xref: Orphanet:43 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 {source="MESH:D000326/inferred", source="Orphanet:43"} ! X-linked disease
is_a: MONDO:0015129 {source="Orphanet:43", source="Orphanet:43/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0016398 {source="Orphanet:43"} ! peroxisomal disease with epilepsy
is_a: MONDO:0019046 {source="DOID:10588", source="NCIT:C61252", source="NCIT:C61252/inferred", source="Orphanet:43"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:43"} ! neurometabolic disease
is_a: MONDO:0019233 {source="Orphanet:43"} ! peroxisomal beta-oxidation disorder
is_a: MONDO:0020142 {source="Orphanet:43"} ! metabolic disease with dementia
disjoint_from: MONDO:0018598 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} ! neonatal adrenoleukodystrophy
property_value: closeMatch http://identifiers.org/snomedct/155059003
property_value: closeMatch http://identifiers.org/snomedct/192932009
property_value: closeMatch http://identifiers.org/snomedct/267702006
property_value: closeMatch http://identifiers.org/snomedct/44875002
property_value: closeMatch NCIT:C84670
property_value: exactMatch DOID:10588
property_value: exactMatch http://identifiers.org/meddra/10051260
property_value: exactMatch http://identifiers.org/mesh/D000326
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162309
property_value: exactMatch NCIT:C61252
property_value: exactMatch Orphanet:43

[Term]
id: MONDO:0018545
name: primary immunodeficiency with predisposition to severe viral infection
subset: ordo_group_of_disorders {source="Orphanet:431156"}
xref: Orphanet:431156 {source="MONDO:equivalentTo"}
is_a: MONDO:0015135 {source="Orphanet:431156"} ! primary immunodeficiency due to a genetic defect in innate immunity
property_value: exactMatch Orphanet:431156

[Term]
id: MONDO:0018546
name: serotonin syndrome
def: "Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." [Orphanet:43116]
subset: ordo_disease {source="Orphanet:43116"}
synonym: "serotonergic syndrome" EXACT [Orphanet:43116]
synonym: "serotonin storm" EXACT [Orphanet:43116]
synonym: "serotonin toxicity" EXACT [Orphanet:43116]
synonym: "serotonin toxidrome" EXACT [Orphanet:43116]
xref: EFO:1001842 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10040108 {source="ORDO:43116/e", source="Orphanet:43116"}
xref: MESH:D020230 {source="ORDO:43116/e", source="Orphanet:43116", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:43116 {source="MONDO:equivalentTo"}
xref: SCTID:371089000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0018753 {source="Orphanet:43116"} ! rare disease with malignant hyperthermia
property_value: exactMatch http://identifiers.org/meddra/10040108
property_value: exactMatch http://identifiers.org/mesh/D020230
property_value: exactMatch http://identifiers.org/snomedct/371089000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699828
property_value: exactMatch Orphanet:43116

[Term]
id: MONDO:0018547
name: acute tricyclic antidepressant poisoning
def: "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." [Orphanet:43117]
subset: ordo_clinical_situation {source="Orphanet:43117"}
xref: ICD10:T43.0 {source="Orphanet:43117", source="ORDO:43117/ntbt"}
xref: Orphanet:43117 {source="MONDO:equivalentTo"}
xref: UMLS:CN227537 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:43117"} ! rare intoxication due to medical products
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227537
property_value: exactMatch Orphanet:43117

[Term]
id: MONDO:0018548
name: acute poisoning by drugs with membrane-stabilizing effect
def: "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." [Orphanet:43119]
subset: ordo_clinical_situation {source="Orphanet:43119"}
xref: Orphanet:43119 {source="MONDO:equivalentTo"}
xref: UMLS:CN227538 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:43119"} ! rare intoxication due to medical products
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227538
property_value: exactMatch Orphanet:43119

[Term]
id: MONDO:0018549
name: late-onset scapuloperoneal muscular dystrophy with hyaline bodies
subset: ordo_group_of_disorders {source="Orphanet:431263"}
synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [Orphanet:431263]
synonym: "late-onset SPMD with hyaline bodies" EXACT [Orphanet:431263]
xref: Orphanet:431263 {source="MONDO:equivalentTo"}
xref: UMLS:CN237548 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016106 {source="Orphanet:431263"} ! progressive muscular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237548
property_value: exactMatch Orphanet:431263

[Term]
id: MONDO:0018550
name: spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
subset: ordo_group_of_disorders {source="Orphanet:431320"}
synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320]
xref: Orphanet:431320 {source="MONDO:equivalentTo"}
xref: UMLS:CN237550 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001835 ! facial paralysis
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015089 {source="Orphanet:431320"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015358 {source="Orphanet:431320"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0018609 {source="Orphanet:431320"} ! syndromic hereditary optic neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237550
property_value: exactMatch Orphanet:431320

[Term]
id: MONDO:0018551
name: patent urachus (disease)
def: "Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." [Orphanet:431341]
subset: ordo_morphological_anomaly {source="Orphanet:431341"}
synonym: "patent urachus" EXACT [MONDO:ambiguous]
xref: HP:0010479 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.4 {source="Orphanet:431341", source="ORDO:431341/ntbt"}
xref: NCIT:C99005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:431341 {source="MONDO:equivalentTo"}
xref: SCTID:398316009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN237552 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018565 {source="Orphanet:431341"} ! congenital urachal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266357
property_value: exactMatch http://identifiers.org/snomedct/398316009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237552
property_value: exactMatch NCIT:C99005
property_value: exactMatch Orphanet:431341

[Term]
id: MONDO:0018552
name: urachal sinus
def: "Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." [Orphanet:431344]
subset: ordo_morphological_anomaly {source="Orphanet:431344"}
xref: ICD10:Q64.4 {source="Orphanet:431344", source="ORDO:431344/ntbt"}
xref: Orphanet:431344 {source="MONDO:equivalentTo"}
xref: SCTID:451030007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN237553 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018565 {source="Orphanet:431344"} ! congenital urachal anomaly
property_value: exactMatch http://identifiers.org/snomedct/451030007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237553
property_value: exactMatch Orphanet:431344

[Term]
id: MONDO:0018553
name: urachal diverticulum
def: "Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." [Orphanet:431347]
subset: ordo_morphological_anomaly {source="Orphanet:431347"}
synonym: "Vesicourachal diverticulum" EXACT [Orphanet:431347]
xref: ICD10:Q64.4 {source="ORDO:431347/ntbt", source="Orphanet:431347"}
xref: NCIT:C123254 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:431347 {source="MONDO:equivalentTo"}
xref: SCTID:253899000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN237554 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018565 {source="Orphanet:431347"} ! congenital urachal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431743
property_value: exactMatch http://identifiers.org/snomedct/253899000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237554
property_value: exactMatch NCIT:C123254
property_value: exactMatch Orphanet:431347

[Term]
id: MONDO:0018554
name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
def: "Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." [Orphanet:431353]
subset: ordo_group_of_disorders {source="Orphanet:431353"}
xref: EFO:0009199 {source="MONDO:equivalentTo"}
xref: Orphanet:431353 {source="MONDO:equivalentTo"}
xref: UMLS:CN237555 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="MONDO:Entailed", source="Orphanet:431353"} ! respiratory system disease
is_a: MONDO:0005149 {source="Orphanet:431353"} ! pulmonary hypertension
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510", source="MONDO:0019096"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237555
property_value: exactMatch Orphanet:431353

[Term]
id: MONDO:0018555
name: hypogonadotropic hypogonadism
def: "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." [NCIT:C113347]
subset: ordo_disease {source="Orphanet:432"}
synonym: "central hypogonadism" EXACT [NCIT:C113347]
synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [DOID:0090070]
synonym: "gonadotropic deficiency" EXACT [Orphanet:432]
synonym: "hypogonadism, hypogonadotropic" EXACT []
synonym: "hypogonadotropic hypogonadism" EXACT [NCIT:C113347]
synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [OMIMPS:147950]
synonym: "hypogonadotropism" EXACT [MONDO:0004228]
synonym: "isolated congenital gonadotropin deficiency" NARROW [DOID:0090070]
synonym: "isolated hypogonadotropic hypogonadism" RELATED []
synonym: "low gonadotropins (secondary hypogonadism)" EXACT []
synonym: "nIHH" EXACT [Orphanet:432]
synonym: "normosmic congenital hypogonadotropic hypogonadism" EXACT [Orphanet:432]
synonym: "Normosmic idiopathic hypogonadotropic hypogonadism" EXACT [Orphanet:432]
synonym: "secondary hypogonadism" EXACT [NCIT:C113347]
xref: DOID:0090070 {source="MONDO:equivalentTo"}
xref: DOID:7455 {source="MONDO:equivalentTo"}
xref: HP:0000044 {source="MONDO:otherHierarchy"}
xref: ICD10:E23.0 {source="ORDO:432/inclusion", source="MONDO:relatedTo", source="DOID:0090070", source="ORDO:432/ntbt", source="Orphanet:432"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C113347 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.88/0.72"}
xref: OMIMPS:147950 {source="MONDO:equivalentTo", source="DOID:0090070"}
xref: Orphanet:432 {source="MONDO:equivalentTo", source="DOID:0090070"}
xref: SCTID:33927004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.83/2.33"}
xref: UMLS:CN235466 {source="MONDO:equivalentTo"}
is_a: MONDO:0002146 {source="DOID:0090070", source="MONDO:Redundant", source="NCIT:C113347", source="OWLReasoner:2017", source="linkedlifedata"} ! hypogonadism
is_a: MONDO:0044980 ! disease of signal transduction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271623
property_value: exactMatch DOID:0090070
property_value: exactMatch DOID:7455
property_value: exactMatch http://identifiers.org/snomedct/33927004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN235466
property_value: exactMatch NCIT:C113347
property_value: exactMatch Orphanet:432

[Term]
id: MONDO:0018556
name: Lambert-Eaton myasthenic syndrome
def: "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." [Orphanet:43393]
subset: gard_rare {source="GARD:0006851"}
subset: ordo_disease {source="Orphanet:43393"}
synonym: "Eaton Lambert syndrome" EXACT [GARD:0006851]
synonym: "Eaton-Lambert syndrome" EXACT [DOID:0050214, MESH:D015624]
synonym: "Lambert Eaton myasthenic syndrome" EXACT [GARD:0006851]
synonym: "Lambert Eaton syndrome" EXACT [GARD:0006851]
synonym: "Lambert-Eaton syndrome" EXACT [DOID:0050214, MESH:D015624]
synonym: "LEMS" EXACT [DOID:0050214]
synonym: "myasthenic syndrome of Lambert-Eaton" EXACT [GARD:0006851]
synonym: "myasthenic-myopathic syndrome of Lambert-Eaton" EXACT [GARD:0006851]
xref: DOID:0050214 {source="MONDO:equivalentTo"}
xref: GARD:0006851 {source="MONDO:equivalentTo"}
xref: ICD10:G70.80 {source="DOID:0050214"}
xref: ICD10:G73.1 {source="ORDO:43393/e", source="Orphanet:43393"}
xref: ICD9:358.3 {source="DOID:0050214"}
xref: MedDRA:10067685 {source="ORDO:43393/e", source="Orphanet:43393"}
xref: MESH:D015624 {source="DOID:0050214", source="MONDO:equivalentTo", source="ORDO:43393/e", source="MONDO:ontobio", source="Orphanet:43393"}
xref: NCIT:C3155 {source="DOID:0050214", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: Orphanet:43393 {source="MONDO:equivalentTo"}
xref: SCTID:56989000 {source="DOID:0050214", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022972 {source="DOID:0050214", source="MONDO:equivalentTo", source="ORDO:43393/e", source="NCIT:C3155", source="Orphanet:43393"}
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:43393"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0018743 {source="Orphanet:43393"} ! immune-mediated acquired neuromuscular junction disease
property_value: closeMatch http://identifiers.org/snomedct/230688006
property_value: exactMatch DOID:0050214
property_value: exactMatch http://identifiers.org/meddra/10067685
property_value: exactMatch http://identifiers.org/mesh/D015624
property_value: exactMatch http://identifiers.org/snomedct/56989000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022972
property_value: exactMatch NCIT:C3155
property_value: exactMatch Orphanet:43393
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome xsd:anyURI {source="GARD:0006851"}

[Term]
id: MONDO:0018557
name: obsolete rare genetic autonomic nervous system disorder
def: "Rare genetic autonomic nervous system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:434786"}
synonym: "rare genetic autonomic nervous system disease" EXACT []
xref: Orphanet:434786 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN237558 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237558
property_value: exactMatch Orphanet:434786
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001292

[Term]
id: MONDO:0018558
name: syndrome with woolly hair
subset: ordo_group_of_disorders {source="Orphanet:434809"}
xref: Orphanet:434809 {source="MONDO:equivalentTo"}
is_a: MONDO:0019282 {source="Orphanet:434809"} ! syndromic hair shaft abnormality
property_value: exactMatch Orphanet:434809

[Term]
id: MONDO:0018559
name: fetal lower urinary tract obstruction
subset: ordo_group_of_disorders {source="Orphanet:435365"}
synonym: "LUTO" EXACT [Orphanet:435365]
xref: Orphanet:435365 {source="MONDO:equivalentTo"}
xref: SCTID:717752005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4305545 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019356 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! urogenital tract malformation
is_a: MONDO:0019719 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! congenital anomaly of kidney and urinary tract
relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! non-syndromic urogenital tract malformation of male and female
relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/717752005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305545
property_value: exactMatch Orphanet:435365

[Term]
id: MONDO:0018560
name: anterior urethral valve
comment: Editor note: consider obsoleting as represents a finding
subset: ordo_morphological_anomaly {source="Orphanet:435372"}
xref: ICD10:Q64.7 {source="ORDO:435372/attributed", source="ORDO:435372/ntbt", source="Orphanet:435372"}
xref: Orphanet:435372 {source="MONDO:equivalentTo"}
xref: SCTID:253907008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.40"}
xref: UMLS:CN242188 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018559 {source="Orphanet:435372"} ! fetal lower urinary tract obstruction
property_value: exactMatch http://identifiers.org/snomedct/253907008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242188
property_value: exactMatch Orphanet:435372

[Term]
id: MONDO:0018561
name: precocious puberty in female
def: "A precocious puberty that involves the female organism." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:435561"}
synonym: "female organism precocious puberty" EXACT [MONDO:patterns/location]
synonym: "precocious puberty of female organism" EXACT []
xref: HP:0010465
xref: Orphanet:435561 {source="MONDO:equivalentTo"}
xref: UMLS:C0271616 {source="MONDO:equivalentTo"}
is_a: MONDO:0000088 ! precocious puberty
is_a: MONDO:0015860 {source="Orphanet:435561"} ! anomaly of puberty or/and menstrual cycle
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271616
property_value: exactMatch Orphanet:435561

[Term]
id: MONDO:0018562
name: genetic otorhinolaryngological malformation
subset: ordo_group_of_disorders {source="Orphanet:435603"}
xref: Orphanet:435603 {source="MONDO:equivalentTo"}
is_a: MONDO:0015961 {source="Orphanet:435603"} ! genetic head and neck malformation
is_a: MONDO:0018751 {source="Orphanet:435603"} ! genetic otorhinolaryngologic disease
property_value: exactMatch Orphanet:435603

[Term]
id: MONDO:0018563
name: adactyly of foot
subset: ordo_morphological_anomaly {source="Orphanet:435623"}
synonym: "congenital absence of toes" EXACT [Orphanet:435623]
xref: ICD10:Q72.8 {source="Orphanet:435623", source="ORDO:435623/attributed", source="ORDO:435623/ntbt"}
xref: Orphanet:435623 {source="MONDO:equivalentTo"}
xref: SCTID:66345008 {source="MONDO:equivalentTo"}
is_a: MONDO:0017421 {source="Orphanet:435623"} ! non-syndromic terminal limb defects
property_value: exactMatch http://identifiers.org/snomedct/66345008
property_value: exactMatch Orphanet:435623

[Term]
id: MONDO:0018564
name: 3p25.3 microdeletion syndrome
def: "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." [Orphanet:435638]
subset: ordo_malformation_syndrome {source="Orphanet:435638"}
synonym: "Del(3)p(25.3)" EXACT [Orphanet:435638]
synonym: "intellectual disability-epilepsy-stereotypic hand movement syndrome" EXACT [Orphanet:435638]
synonym: "monosomy 3p25.3" EXACT [Orphanet:435638]
xref: ICD10:Q93.5 {source="ORDO:435638/attributed", source="ORDO:435638/ntbt", source="Orphanet:435638"}
xref: Orphanet:435638 {source="MONDO:equivalentTo"}
xref: UMLS:CN237571 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:435638"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016885 {source="Orphanet:435638"} ! partial deletion of the short arm of chromosome 3
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237571
property_value: exactMatch Orphanet:435638

[Term]
id: MONDO:0018565
name: congenital urachal anomaly
def: "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms)." [Orphanet:435743]
subset: ordo_group_of_disorders {source="Orphanet:435743"}
xref: Orphanet:435743 {source="MONDO:equivalentTo"}
is_a: MONDO:0015934 {source="Orphanet:435743"} ! non-syndromic urogenital tract malformation of male and female
is_a: MONDO:0019720 {source="Orphanet:435743"} ! non-syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1739100
property_value: exactMatch Orphanet:435743

[Term]
id: MONDO:0018566
name: short stature-advanced bone age-early-onset osteoarthritis syndrome
subset: ordo_disease {source="Orphanet:435804"}
xref: ICD10:M89.8 {source="ORDO:435804/attributed", source="ORDO:435804/ntbt", source="Orphanet:435804"}
xref: Orphanet:435804 {source="MONDO:equivalentTo"}
xref: UMLS:CN237575 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:435804"} ! primary bone dysplasia
is_a: MONDO:0018239 {source="Orphanet:435804"} ! aggrecan-related bone disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237575
property_value: exactMatch Orphanet:435804

[Term]
id: MONDO:0018567
name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
subset: ordo_disease {source="Orphanet:435819"}
synonym: "CMT2 due to TFG mutation" EXACT [Orphanet:435819]
xref: ICD10:G60.0 {source="ORDO:435819/attributed", source="ORDO:435819/ntbt", source="Orphanet:435819"}
xref: Orphanet:435819 {source="MONDO:equivalentTo"}
xref: UMLS:CN237576 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011468 ! hereditary motor and sensory neuropathy, Okinawa type
is_a: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237576
property_value: exactMatch Orphanet:435819

[Term]
id: MONDO:0018568
name: COG2-CDG
subset: ordo_disease {source="Orphanet:435934"}
synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934]
xref: ICD10:E77.8 {source="ORDO:435934/attributed", source="ORDO:435934/ntbt", source="Orphanet:435934"}
xref: Orphanet:435934 {source="MONDO:equivalentTo"}
xref: UMLS:C4479353 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017750 {source="Orphanet:435934"} ! defect in conserved oligomeric Golgi complex
is_a: MONDO:0018284 {source="Orphanet:435934"} ! congenital disorder of glycosylation with neurological involvement
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479353
property_value: exactMatch Orphanet:435934

[Term]
id: MONDO:0018569
name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
def: "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." [Orphanet:435938]
subset: ordo_malformation_syndrome {source="Orphanet:435938"}
xref: ICD10:Q87.8 {source="ORDO:435938/attributed", source="ORDO:435938/ntbt", source="Orphanet:435938"}
xref: Orphanet:435938 {source="MONDO:equivalentTo"}
xref: UMLS:CN237580 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:435938"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:435938"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237580
property_value: exactMatch Orphanet:435938

[Term]
id: MONDO:0018570
name: hypophosphatasia
def: "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." [Orphanet:436]
subset: ordo_disease {source="Orphanet:436"}
synonym: "childhood hypophosphatasia" NARROW [DOID:14213]
synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213]
synonym: "deficiency of alkaline phosphatase (disorder) [ambiguous]" EXACT [DOID:14213]
synonym: "HPP" EXACT [Orphanet:436]
synonym: "hypophospatasia, childhood" NARROW [DOID:14213]
synonym: "hypophosphatasia mild" NARROW [GARD:0006734]
synonym: "phosphoethanol-aminuria" RELATED [GARD:0006734]
synonym: "phosphoethanolaminuria" EXACT [Orphanet:436]
synonym: "Rathburn disease" EXACT [Orphanet:436]
xref: DOID:14213 {source="MONDO:equivalentTo"}
xref: GARD:0006734 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E83.3 {source="Orphanet:436", source="ORDO:436/inclusion", source="ORDO:436/ntbt", source="MONDO:directSiblingOf"}
xref: ICD10:E83.39 {source="DOID:14213"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10049933 {source="ORDO:436/e", source="Orphanet:436"}
xref: MESH:D007014 {source="ORDO:436/e", source="Orphanet:436", source="MONDO:equivalentTo", source="DOID:14213"}
xref: NCIT:C26798 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:14213"}
xref: Orphanet:436 {source="MONDO:equivalentTo"}
xref: SCTID:360792001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.82/0.83", source="DOID:14213"}
xref: UMLS:C0020630 {source="ORDO:436/e", source="Orphanet:436", source="MONDO:equivalentTo", source="NCIT:C26798", source="DOID:14213"}
is_a: MONDO:0000426 {source="DOID:14213", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:436"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019052 {source="MESH:D007014/inferred", source="MONDO:Redundant"} ! inborn errors of metabolism
is_a: MONDO:0019705 {source="Orphanet:436"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://identifiers.org/snomedct/124431003
property_value: closeMatch http://identifiers.org/snomedct/190859005
property_value: closeMatch http://identifiers.org/snomedct/70848009
property_value: exactMatch DOID:14213
property_value: exactMatch http://identifiers.org/meddra/10049933
property_value: exactMatch http://identifiers.org/mesh/D007014
property_value: exactMatch http://identifiers.org/snomedct/360792001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020630
property_value: exactMatch NCIT:C26798
property_value: exactMatch Orphanet:436

[Term]
id: MONDO:0018571
name: contractures-developmental delay-Pierre Robin syndrome
subset: ordo_malformation_syndrome {source="Orphanet:436003"}
synonym: "5q23 microdeletion syndrome" EXACT [Orphanet:436003]
xref: ICD10:Q87.0 {source="ORDO:436003/attributed", source="ORDO:436003/ntbt", source="Orphanet:436003"}
xref: Orphanet:436003 {source="MONDO:equivalentTo"}
xref: UMLS:CN237584 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015320 {source="Orphanet:436003"} ! Pierre Robin syndrome associated with a chromosomal anomaly
is_a: MONDO:0016904 {source="Orphanet:436003"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:436003"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237584
property_value: exactMatch Orphanet:436003

[Term]
id: MONDO:0018572
name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
subset: ordo_malformation_syndrome {source="Orphanet:436141"}
xref: ICD10:Q87.8 {source="ORDO:436141/attributed", source="ORDO:436141/ntbt", source="Orphanet:436141"}
xref: Orphanet:436141 {source="MONDO:equivalentTo"}
xref: UMLS:CN237585 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:436141", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:436141"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020253 {source="Orphanet:436141"} ! syndrome with a symptomatic strabismus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237585
property_value: exactMatch Orphanet:436141

[Term]
id: MONDO:0018573
name: intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
subset: ordo_disease {source="Orphanet:436144"}
xref: ICD10:Q87.1 {source="ORDO:436144/attributed", source="ORDO:436144/ntbt", source="Orphanet:436144"}
xref: Orphanet:436144 {source="MONDO:equivalentTo"}
xref: UMLS:CN237586 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:436144"} ! rare insulin-resistance syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237586
property_value: exactMatch Orphanet:436144

[Term]
id: MONDO:0018574
name: intellectual disability-expressive aphasia-facial dysmorphism syndrome
subset: ordo_disease {source="Orphanet:436151"}
synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151]
xref: ICD10:Q87.0 {source="ORDO:436151/attributed", source="ORDO:436151/ntbt", source="Orphanet:436151"}
xref: Orphanet:436151 {source="MONDO:equivalentTo"}
xref: UMLS:CN237587 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:436151"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237587
property_value: exactMatch Orphanet:436151

[Term]
id: MONDO:0018575
name: microcephalic primordial dwarfism-insulin resistance syndrome
subset: ordo_malformation_syndrome {source="Orphanet:436182"}
xref: ICD10:Q87.1 {source="ORDO:436182/attributed", source="ORDO:436182/ntbt", source="Orphanet:436182"}
xref: Orphanet:436182 {source="MONDO:equivalentTo"}
xref: UMLS:CN237592 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:436182"} ! rare insulin-resistance syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019852 {source="Orphanet:436182"} ! inherited primary ovarian failure
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237592
property_value: exactMatch Orphanet:436182

[Term]
id: MONDO:0018576
name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
subset: ordo_disease {source="Orphanet:436271"}
xref: ICD10:G93.4 {source="ORDO:436271/attributed", source="ORDO:436271/ntbt", source="Orphanet:436271"}
xref: Orphanet:436271 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016133 {source="Orphanet:436271"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016799 {source="Orphanet:436271"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0019046 {source="Orphanet:436271"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:436271"} ! neurometabolic disease
property_value: exactMatch Orphanet:436271

[Term]
id: MONDO:0018577
name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
subset: ordo_disease {source="Orphanet:436274"}
synonym: "PXE-like syndrome with retinitis pigmentosa" EXACT [Orphanet:436274]
xref: ICD10:Q82.8 {source="ORDO:436274/attributed", source="ORDO:436274/ntbt", source="Orphanet:436274"}
xref: Orphanet:436274 {source="MONDO:equivalentTo"}
xref: UMLS:CN237597 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019292 {source="Orphanet:436274", source="Orphanet:436274/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0020240 {source="Orphanet:436274"} ! syndromic retinitis pigmentosa
is_a: MONDO:0024255 ! genetic skin disease
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237597
property_value: exactMatch Orphanet:436274

[Term]
id: MONDO:0018578
name: obsolete hypophosphatemic rickets
is_obsolete: true
replaced_by: MONDO:0000044

[Term]
id: MONDO:0018579
name: disorder of ketone body transport
subset: ordo_group_of_disorders {source="Orphanet:438072"}
synonym: "disorder of keton body transport" RELATED DUBIOUS [Orphanet:438072]
synonym: "disorder of ketone body transport" EXACT []
xref: Orphanet:438072 {source="MONDO:equivalentTo"}
xref: UMLS:CN237600 {source="MONDO:equivalentTo"}
is_a: MONDO:0019223 {source="Orphanet:438072"} ! inborn disorder of fatty acid oxidation and ketone body metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237600
property_value: exactMatch Orphanet:438072

[Term]
id: MONDO:0018580
name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
subset: ordo_disease {source="Orphanet:438213"}
xref: ICD10:G40.4 {source="Orphanet:438213", source="ORDO:438213/attributed", source="ORDO:438213/ntbt"}
xref: Orphanet:438213 {source="MONDO:equivalentTo"}
xref: UMLS:CN237608 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:438213"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:438213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237608
property_value: exactMatch Orphanet:438213

[Term]
id: MONDO:0018581
name: progressive encephalomyelitis with rigidity and myoclonus
subset: gard_rare {source="GARD:0013110"}
subset: ordo_clinical_subtype {source="Orphanet:438266"}
synonym: "perm" EXACT [Orphanet:438266]
xref: GARD:0013110 {source="MONDO:equivalentTo"}
xref: ICD10:G04.8 {source="ORDO:438266/ntbt", source="Orphanet:438266"}
xref: Orphanet:438266 {source="MONDO:equivalentTo"}
xref: UMLS:C1861457 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:438266"}
is_a: MONDO:0008491 {source="MONDOLEX:0018581", source="Orphanet:438266"} ! stiff-person syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861457
property_value: exactMatch Orphanet:438266
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus xsd:anyURI {source="GARD:0013110"}

[Term]
id: MONDO:0018582
name: GCGR-related hyperglucagonemia
subset: ordo_disease {source="Orphanet:438274"}
synonym: "Mahvash disease" EXACT [Orphanet:438274]
synonym: "Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460]
synonym: "Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460]
xref: GARD:0010460 {source="MONDO:equivalentTo"}
xref: ICD10:E16.3 {source="ORDO:438274/ntbt", source="Orphanet:438274"}
xref: Orphanet:438274 {source="MONDO:equivalentTo"}
xref: UMLS:CN237611 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021040 {source="Orphanet:438274"} ! pancreatic neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237611
property_value: exactMatch Orphanet:438274

[Term]
id: MONDO:0018583
name: human infection by orthopoxvirus
subset: ordo_disease {source="Orphanet:438279"}
xref: ICD10:B08.0 {source="Orphanet:438279", source="ORDO:438279/e"}
xref: Orphanet:438279 {source="MONDO:equivalentTo"}
xref: UMLS:CN237612 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:438279"} ! viral infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237612
property_value: exactMatch Orphanet:438279

[Term]
id: MONDO:0018584
name: obsolete placental insufficiency
is_obsolete: true
replaced_by: MONDO:0005919

[Term]
id: MONDO:0018585
name: pediatric arterial ischemic stroke
subset: ordo_clinical_syndrome {source="Orphanet:439175"}
synonym: "childhood AIS" EXACT [Orphanet:439175]
synonym: "childhood arterial ischemic stroke" EXACT [Orphanet:439175]
synonym: "pediatric AIS" EXACT [Orphanet:439175]
xref: ICD10:I63.5 {source="ORDO:439175/ntbt", source="Orphanet:439175"}
xref: Orphanet:439175 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0005098 ! stroke disorder
is_a: MONDO:0005299 ! brain ischemia
relationship: has_modifier MONDO:0021136 {source="MONDO:0019048", source="MONDO:0019110"} ! rare
property_value: exactMatch Orphanet:439175

[Term]
id: MONDO:0018586
name: zinc-responsive necrolytic acral erythema
subset: ordo_clinical_situation {source="Orphanet:439196"}
synonym: "NAE" EXACT [Orphanet:439196]
synonym: "necrolytic acral erythema" EXACT [Orphanet:439196]
xref: ICD10:L53.8 {source="ORDO:439196/ntbt", source="Orphanet:439196"}
xref: Orphanet:439196 {source="MONDO:equivalentTo"}
xref: SCTID:762543009 {source="MONDO:equivalentTo"}
xref: UMLS:CN237615 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:439196"} ! other epidermal disorder
property_value: exactMatch http://identifiers.org/snomedct/762543009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237615
property_value: exactMatch Orphanet:439196

[Term]
id: MONDO:0018587
name: non-recovering obstetric brachial plexus lesion
subset: ordo_disease {source="Orphanet:439202"}
synonym: "chronic obstetric brachial plexus injury" EXACT [Orphanet:439202]
synonym: "chronic obstetric brachial plexus palsy" EXACT [Orphanet:439202]
synonym: "non-recovering OBPI" EXACT [Orphanet:439202]
synonym: "non-recovering OBPL" EXACT [Orphanet:439202]
xref: ICD10:P14.3 {source="ORDO:439202/ntbt", source="Orphanet:439202"}
xref: Orphanet:439202 {source="MONDO:equivalentTo"}
xref: UMLS:CN237616 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:439202"} ! acquired peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237616
property_value: exactMatch Orphanet:439202

[Term]
id: MONDO:0018588
name: ALECT2 amyloidosis
def: "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." [Orphanet:439224]
subset: ordo_disease {source="Orphanet:439224"}
synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224]
xref: ICD10:E85.8 {source="ORDO:439224/ntbt", source="Orphanet:439224"}
xref: Orphanet:439224 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis (disease)
property_value: exactMatch Orphanet:439224

[Term]
id: MONDO:0018589
name: AApoAIV amyloidosis
subset: ordo_disease {source="Orphanet:439232"}
synonym: "apolipoprotein A-IV amyloidosis" EXACT [Orphanet:439232]
xref: ICD10:E85.8 {source="ORDO:439232/ntbt", source="Orphanet:439232"}
xref: Orphanet:439232 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis (disease)
is_a: MONDO:0019724 {source="Orphanet:439232"} ! secondary glomerular disease
property_value: exactMatch Orphanet:439232

[Term]
id: MONDO:0018590
name: ABeta2M amyloidosis
subset: ordo_group_of_disorders {source="Orphanet:439246"}
synonym: "Beta2-microglobulinic amyloidosis" EXACT [Orphanet:439246]
xref: Orphanet:439246 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="Orphanet:439246"} ! amyloidosis (disease)
property_value: exactMatch Orphanet:439246

[Term]
id: MONDO:0018591
name: ITM2B amyloidosis
subset: ordo_disease {source="Orphanet:439254"}
synonym: "familial cerebral amyloid angiopathy" EXACT [Orphanet:439254]
synonym: "ITM2B-related amyloidosis" EXACT [Orphanet:439254]
synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254]
xref: ICD10:E85.4+ {source="ORDO:439254/attributed", source="ORDO:439254/ntbt", source="Orphanet:439254"}
xref: ICD10:I68.0* {source="ORDO:439254/attributed", source="ORDO:439254/ntbt", source="Orphanet:439254"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:439254 {source="MONDO:equivalentTo"}
xref: SCTID:45639009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.42/0.21"}
xref: UMLS:CN237622 {source="MONDO:equivalentTo"}
is_a: MONDO:0018634 {source="MONDO:Entailed", source="Orphanet:439254"} ! hereditary amyloidosis
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:439254"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch http://identifiers.org/snomedct/45639009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237622
property_value: exactMatch Orphanet:439254

[Term]
id: MONDO:0018592
name: cutaneous polyarteritis nodosa
def: "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." [Orphanet:439729]
subset: gard_rare {source="GARD:0007415"}
subset: ordo_clinical_subtype {source="Orphanet:439729"}
synonym: "cutaneous PAN" EXACT [Orphanet:439729]
synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729]
xref: GARD:0007415 {source="MONDO:equivalentTo"}
xref: ICD10:M30.0 {source="MONDO:subClassOf", source="ORDO:439729/ntbt", source="Orphanet:439729"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C117295 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:439729 {source="MONDO:equivalentTo"}
xref: SCTID:239926000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0343190 {source="GARD:0007415", source="MONDO:equivalentTo", source="NCIT:C117295"}
xref: UMLS:CN242143 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018593 {source="Orphanet:439729"} ! primary polyarteritis nodosa
property_value: exactMatch http://identifiers.org/snomedct/239926000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242143
property_value: exactMatch NCIT:C117295
property_value: exactMatch Orphanet:439729
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa xsd:anyURI {source="GARD:0007415"}

[Term]
id: MONDO:0018593
name: primary polyarteritis nodosa
subset: ordo_clinical_subtype {source="Orphanet:439737"}
synonym: "primary PAN" EXACT [Orphanet:439737]
synonym: "primary periarteritis nodosa" EXACT [Orphanet:439737]
xref: ICD10:M30.0 {source="MONDO:subClassOf", source="Orphanet:439737", source="ORDO:439737/e"}
xref: Orphanet:439737 {source="MONDO:equivalentTo"}
xref: UMLS:CN237623 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019170 {source="MONDOLEX:0018593", source="Orphanet:439737"} ! polyarteritis nodosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237623
property_value: exactMatch Orphanet:439737

[Term]
id: MONDO:0018594
name: secondary polyarteritis nodosa
def: "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." [Orphanet:439746]
subset: ordo_clinical_subtype {source="Orphanet:439746"}
synonym: "Scondary PAN" EXACT [Orphanet:439746]
synonym: "secondary PAN" EXACT [Orphanet:439746]
synonym: "secondary periarteritis nodosa" EXACT [Orphanet:439746]
xref: ICD10:M30.8 {source="Orphanet:439746", source="ORDO:439746/ntbt"}
xref: Orphanet:439746 {source="MONDO:equivalentTo"}
xref: UMLS:CN237624 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019170 {source="MONDOLEX:0018594", source="Orphanet:439746"} ! polyarteritis nodosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237624
property_value: exactMatch Orphanet:439746

[Term]
id: MONDO:0018595
name: single-organ polyarteritis nodosa
def: "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common." [Orphanet:439755]
subset: ordo_clinical_subtype {source="Orphanet:439755"}
synonym: "single-organ PAN" EXACT [Orphanet:439755]
synonym: "single-organ periarteritis nodosa" EXACT [Orphanet:439755]
xref: ICD10:M30.0 {source="MONDO:subClassOf", source="ORDO:439755/ntbt", source="Orphanet:439755"}
xref: Orphanet:439755 {source="MONDO:equivalentTo"}
xref: UMLS:CN242112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018593 {source="Orphanet:439755"} ! primary polyarteritis nodosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242112
property_value: exactMatch Orphanet:439755

[Term]
id: MONDO:0018596
name: systemic polyarteritis nodosa
def: "Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." [Orphanet:439762]
subset: ordo_clinical_subtype {source="Orphanet:439762"}
synonym: "systemic PAN" EXACT [Orphanet:439762]
synonym: "systemic periarteritis nodosa" EXACT [Orphanet:439762]
xref: ICD10:M30.0 {source="MONDO:subClassOf", source="ORDO:439762/ntbt", source="Orphanet:439762"}
xref: Orphanet:439762 {source="MONDO:equivalentTo"}
xref: UMLS:CN242146 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018593 {source="Orphanet:439762"} ! primary polyarteritis nodosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242146
property_value: exactMatch Orphanet:439762

[Term]
id: MONDO:0018597
name: plastic bronchitis
def: "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." [https://www.chop.edu/conditions-diseases/plastic-bronchitis]
subset: ordo_clinical_situation {source="Orphanet:439881"}
synonym: "croupous bronchitis" EXACT [Orphanet:439881]
synonym: "fibrinous bronchitis" EXACT [Orphanet:439881]
synonym: "pseudo-membranous bronchitis" EXACT [Orphanet:439881]
xref: Orphanet:439881 {source="MONDO:equivalentTo"}
xref: SCTID:53926002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0264342 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="Orphanet:439881"}
is_a: MONDO:0005087 {source="Orphanet:439881"} ! respiratory system disease
is_a: MONDO:0005833 ! lymphatic system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0920258
property_value: exactMatch http://identifiers.org/snomedct/53926002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264342
property_value: exactMatch Orphanet:439881

[Term]
id: MONDO:0018598
name: neonatal adrenoleukodystrophy
def: "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." [Orphanet:44]
subset: gard_rare {source="GARD:0000559"}
subset: ordo_disease {source="Orphanet:44"}
synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559]
synonym: "NALD" EXACT [Orphanet:44]
xref: GARD:0000559 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="Orphanet:44", source="ORDO:44/attributed", source="ORDO:44/ntbt"}
xref: ICD10:E71.511 {source="MONDO:equivalentTo"}
xref: NCIT:C99251 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:44 {source="MONDO:equivalentTo"}
xref: SCTID:238061001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.38"}
xref: UMLS:C0282525 {source="ORDO:44/e", source="Orphanet:44", source="NCIT:C99251", source="MONDO:equivalentTo"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015129 {source="Orphanet:44", source="Orphanet:44/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0016398 {source="Orphanet:44"} ! peroxisomal disease with epilepsy
is_a: MONDO:0019234 {source="NCIT:C99251", source="Orphanet:44"} ! peroxisome biogenesis disorder
is_a: MONDO:0020281 {source="Orphanet:44"} ! metabolic disease with pigmentary retinitis
property_value: exactMatch http://identifiers.org/mesh/D018901
property_value: exactMatch http://identifiers.org/snomedct/238061001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282525
property_value: exactMatch NCIT:C99251
property_value: exactMatch Orphanet:44
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy xsd:anyURI {source="GARD:0000559"}

[Term]
id: MONDO:0018599
name: congenital oculomotor nerve palsy
subset: ordo_disease {source="Orphanet:440221"}
synonym: "congenital CNIII lesion" EXACT [Orphanet:440221]
synonym: "congenital third cranial nerve palsy" EXACT [Orphanet:440221]
xref: ICD10:Q07.8 {source="Orphanet:440221", source="ORDO:440221/attributed", source="ORDO:440221/ntbt"}
xref: Orphanet:440221 {source="MONDO:equivalentTo"}
is_a: MONDO:0015083 {source="Orphanet:440221"} ! nuclear oculomotor paralysis
property_value: exactMatch Orphanet:440221

[Term]
id: MONDO:0018600
name: congenital abducens nerve palsy
subset: ordo_disease {source="Orphanet:440233"}
synonym: "benign congenital sixth cranial nerve palsy" EXACT [Orphanet:440233]
synonym: "congenital CNVI palsy" EXACT [Orphanet:440233]
xref: ICD10:Q07.8 {source="Orphanet:440233", source="ORDO:440233/attributed", source="ORDO:440233/ntbt"}
xref: Orphanet:440233 {source="MONDO:equivalentTo"}
is_a: MONDO:0015083 {source="Orphanet:440233"} ! nuclear oculomotor paralysis
property_value: exactMatch Orphanet:440233

[Term]
id: MONDO:0018601
name: autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:440354"}
xref: Orphanet:440354 {source="MONDO:equivalentTo"}
xref: UMLS:CN237631 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:440354"} ! syndromic genetic deafness
is_a: MONDO:0019687 {source="Orphanet:440354"} ! type 11 collagen-related bone disorder
is_a: MONDO:0019697 {source="Orphanet:440354"} ! mesomelic and rhizo-mesomelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237631
property_value: exactMatch Orphanet:440354

[Term]
id: MONDO:0018602
name: necrotizing soft tissue infection
subset: ordo_disease {source="Orphanet:440368"}
synonym: "NSTI" EXACT [Orphanet:440368]
xref: ICD10:M72.6 {source="MONDO:relatedTo", source="ORDO:440368/ntbt", source="Orphanet:440368"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:440368 {source="MONDO:equivalentTo"}
xref: SCTID:443928008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2732890 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN237632 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="Orphanet:440368"} ! bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/443928008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2732890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237632
property_value: exactMatch Orphanet:440368

[Term]
id: MONDO:0018603
name: interstitial lung disease due to SP-c deficiency
subset: ordo_disease {source="Orphanet:440392"}
synonym: "interstitial lung disease due to surfactant protein C deficiency" EXACT [Orphanet:440392]
xref: ICD10:J84.8 {source="ORDO:440392/attributed", source="ORDO:440392/ntbt", source="Orphanet:440392"}
xref: Orphanet:440392 {source="MONDO:equivalentTo"}
xref: UMLS:CN237633 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis
is_a: MONDO:0017032 {source="Orphanet:440392"} ! primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237633
property_value: exactMatch Orphanet:440392

[Term]
id: MONDO:0018604
name: familial colorectal cancer type X
def: "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." [NCIT:P378]
subset: ordo_disease {source="Orphanet:440437"}
synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084]
synonym: "FCCTX" EXACT [NCIT:C120084, Orphanet:440437]
xref: ICD10:C18.0 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.1 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.2 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.3 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.4 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.5 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.6 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: ICD10:C18.7 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"}
xref: NCIT:C120084 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:440437 {source="MONDO:equivalentTo"}
xref: UMLS:C3896578 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C120084", source="MONDO:equivalentTo"}
xref: UMLS:CN237636 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018630 {source="NCIT:C120084", source="Orphanet:440437"} ! hereditary nonpolyposis colon cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3896578
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237636
property_value: exactMatch NCIT:C120084
property_value: exactMatch Orphanet:440437

[Term]
id: MONDO:0018605
name: disorders of pentose/polyol metabolism
subset: ordo_group_of_disorders {source="Orphanet:440701"}
xref: Orphanet:440701 {source="MONDO:equivalentTo"}
xref: UMLS:CN237637 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019214 {source="Orphanet:440701"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237637
property_value: exactMatch Orphanet:440701

[Term]
id: MONDO:0018606
name: extensive peripapillary myelinated nerve fibers
subset: ordo_disease {source="Orphanet:440724"}
xref: Orphanet:440724 {source="MONDO:equivalentTo"}
xref: UMLS:CN237640 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002135 ! optic nerve disease
is_a: MONDO:0005328 ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237640
property_value: exactMatch Orphanet:440724

[Term]
id: MONDO:0018607
name: combined hamartoma of the retina and retinal pigment epithelium
subset: ordo_disease {source="Orphanet:440727"}
synonym: "CHR-RPE" EXACT [Orphanet:440727]
synonym: "combined hamartoma of the retina and RPE" EXACT [Orphanet:440727]
xref: Orphanet:440727 {source="MONDO:equivalentTo"}
xref: UMLS:C1862062 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN237641 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021220 {source="Orphanet:440727"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237641
property_value: exactMatch Orphanet:440727

[Term]
id: MONDO:0018608
name: pure autonomic failure
def: "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." [Orphanet:441]
subset: ordo_disease {source="Orphanet:441"}
synonym: "Bradbury Eggleston syndrome" EXACT [GARD:0010428]
synonym: "Bradbury-Eggleston syndrome" EXACT [Orphanet:441]
synonym: "idiopathic orthostatic hypotension" EXACT [Orphanet:441]
synonym: "idiopathic orthostatic hypotension (a symptom)" RELATED [GARD:0010428]
synonym: "orthostatic hypotension (a symptom)" RELATED [GARD:0010428]
synonym: "PAF" EXACT [Orphanet:441]
synonym: "Pure dysautonomia" EXACT [Orphanet:441]
synonym: "Pure idiopatic dysautonomia" EXACT [Orphanet:441]
xref: GARD:0010428 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G90.3 {source="ORDO:441/ntbt", source="Orphanet:441"}
xref: MESH:D054970 {source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"}
xref: Orphanet:441 {source="MONDO:equivalentTo"}
xref: SCTID:84438001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393911 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"}
xref: UMLS:C2931939 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"}
xref: UMLS:CN205091 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="Orphanet:441"} ! autonomic nervous system disease
is_a: MONDO:0007803 ! multiple system atrophy
property_value: exactMatch http://identifiers.org/mesh/C544351
property_value: exactMatch http://identifiers.org/mesh/D054970
property_value: exactMatch http://identifiers.org/snomedct/84438001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205091
property_value: exactMatch Orphanet:441

[Term]
id: MONDO:0018609
name: syndromic hereditary optic neuropathy
def: "A hereditary optic neuropathy that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:441434"}
synonym: "syndrome associated with hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with hereditary optic neuropathy" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:441434 {source="MONDO:equivalentTo"}
xref: UMLS:CN237645 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020249 {source="MONDO:Redundant", source="Orphanet:441434"} ! hereditary optic neuropathy
intersection_of: MONDO:0020249 ! hereditary optic neuropathy
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237645
property_value: exactMatch Orphanet:441434

[Term]
id: MONDO:0018610
name: early-onset posterior subcapsular cataract
subset: ordo_clinical_subtype {source="Orphanet:441447"}
xref: ICD10:H26.0 {source="ORDO:441447/attributed", source="ORDO:441447/ntbt", source="Orphanet:441447"}
xref: Orphanet:441447 {source="MONDO:equivalentTo"}
xref: UMLS:CN237646 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020377 {source="Orphanet:441447"} ! early-onset partial cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237646
property_value: exactMatch Orphanet:441447

[Term]
id: MONDO:0018611
name: early-onset lamellar cataract
subset: ordo_clinical_subtype {source="Orphanet:441452"}
xref: Orphanet:441452 {source="MONDO:equivalentTo"}
xref: UMLS:CN237647 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0013411 ! cataract 16 multiple types
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237647
property_value: exactMatch Orphanet:441452

[Term]
id: MONDO:0018612
name: congenital hypothyroidism
def: "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." [Orphanet:442]
subset: ordo_group_of_disorders {source="Orphanet:442"}
synonym: "congenital goiter" RELATED []
synonym: "congenital hypothyroidism" EXACT [MONDO:patterns/congenital]
synonym: "congenital hypothyroidism not due to iodine deficiency" RELATED []
synonym: "congenital iodine deficiency syndrome" EXACT []
synonym: "cretinism" RELATED DEPRECATED [CSP2005:2928-6883, DOID:0050328]
synonym: "fetal iodine deficiency syndrome" RELATED []
synonym: "infantile hypothyroidism" RELATED []
xref: DOID:0050328 {source="MONDO:equivalentTo"}
xref: GARD:0001487 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E00.0 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD10:E00.1 {source="ORDO:442/btnt", source="DOID:0050328", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD10:E00.2 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD10:E00.9 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD10:E03.0 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD10:E03.1 {source="ORDO:442/btnt", source="DOID:0050328", source="ORDO:442/specific", source="Orphanet:442"}
xref: ICD9:243 {source="DOID:0050328", source="linkedlifedata"}
xref: ICD9:269.3 {source="linkedlifedata"}
xref: ICD9:759.89 {source="linkedlifedata"}
xref: MedDRA:10010510 {source="ORDO:442/e", source="Orphanet:442"}
xref: MESH:D003409 {source="MONDO:equivalentTo", source="DOID:0050328", source="ORDO:442/e", source="Orphanet:442"}
xref: NCIT:C26734 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050328"}
xref: Orphanet:442 {source="MONDO:equivalentTo"}
xref: SCTID:190268003 {source="MONDO:equivalentTo", source="DOID:0050328"}
xref: SCTID:217710005 {source="MONDO:equivalentTo"}
xref: UMLS:C0010308 {source="MONDO:equivalentTo", source="DOID:0050328", source="ORDO:442/e", source="NCIT:C26734", source="Orphanet:442"}
is_a: MONDO:0005420 {source="DOID:0050328", source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442", source="Orphanet:442/inferred", source="linkedlifedata"} ! hypothyroidism
is_a: MONDO:0019590 {source="Orphanet:442"} ! rare endocrine growth disease
intersection_of: MONDO:0005420 ! hypothyroidism
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: has_modifier MONDO:0021140 ! congenital
property_value: closeMatch http://identifiers.org/snomedct/154660000
property_value: closeMatch http://identifiers.org/snomedct/154661001
property_value: closeMatch http://identifiers.org/snomedct/190273009
property_value: closeMatch http://identifiers.org/snomedct/267376007
property_value: closeMatch http://identifiers.org/snomedct/267465007
property_value: closeMatch http://identifiers.org/snomedct/3614006
property_value: closeMatch http://identifiers.org/snomedct/75065003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342200
property_value: exactMatch DOID:0050328
property_value: exactMatch http://identifiers.org/meddra/10010510
property_value: exactMatch http://identifiers.org/mesh/D003409
property_value: exactMatch http://identifiers.org/snomedct/190268003
property_value: exactMatch http://identifiers.org/snomedct/217710005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010308
property_value: exactMatch NCIT:C26734
property_value: exactMatch NCIT:C98921
property_value: exactMatch Orphanet:442

[Term]
id: MONDO:0018613
name: AH amyloidosis
subset: ordo_disease {source="Orphanet:442582"}
synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582]
xref: ICD10:E85.9 {source="ORDO:442582/ntbt", source="Orphanet:442582"}
xref: Orphanet:442582 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis (disease)
is_a: MONDO:0019724 {source="Orphanet:442582"} ! secondary glomerular disease
property_value: exactMatch Orphanet:442582

[Term]
id: MONDO:0018614
name: undetermined early-onset epileptic encephalopathy
subset: ordo_disease {source="Orphanet:442835"}
synonym: "undetermined EOEE" EXACT [Orphanet:442835]
xref: ICD10:G40.4 {source="ORDO:442835/attributed", source="ORDO:442835/ntbt", source="Orphanet:442835"}
xref: Orphanet:442835 {source="MONDO:equivalentTo"}
is_a: MONDO:0020070 {source="Orphanet:442835"} ! neonatal epilepsy syndrome
is_a: MONDO:0020071 {source="Orphanet:442835"} ! infantile epilepsy syndrome
property_value: exactMatch Orphanet:442835

[Term]
id: MONDO:0018615
name: hemicrania continua
def: "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose , or drooping eyelid . In addition, the headache pain must respond to treatment with indomethacin . The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." [https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua]
subset: gard_rare {source="GARD:0010795"}
subset: ordo_disease {source="Orphanet:443070"}
xref: COHD:40480082 {source="MONDO:equivalentTo"}
xref: GARD:0010795 {source="MONDO:equivalentTo"}
xref: ICD10:G44.0 {source="ORDO:443070/ntbt", source="Orphanet:443070"}
xref: ICD10:G44.51 {source="MONDO:equivalentTo"}
xref: ICD9:339.41 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:443070 {source="MONDO:equivalentTo"}
xref: SCTID:443095000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.22"}
xref: UMLS:C2349425 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN237652 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015530 {source="Orphanet:443070"} ! trigeminal autonomic cephalalgia
property_value: exactMatch http://identifiers.org/snomedct/443095000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2349425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237652
property_value: exactMatch Orphanet:443070
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua xsd:anyURI {source="GARD:0010795"}

[Term]
id: MONDO:0018616
name: central serous chorioretinopathy
def: "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina , the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." [https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy]
subset: gard_rare {source="GARD:0000200"}
subset: ordo_disease {source="Orphanet:443079"}
synonym: "central serous chorioretinopathy after bone marrow transplantation" RELATED [GARD:0000200]
synonym: "central serous choroidopathy" RELATED [GARD:0000200]
synonym: "central serous retinopathy" EXACT [NCIT:C115124]
synonym: "CSC" EXACT [NCIT:C115124]
synonym: "CSCR" EXACT [Orphanet:443079]
xref: COHD:372894 {source="MONDO:equivalentTo"}
xref: GARD:0000200 {source="MONDO:equivalentTo"}
xref: ICD10:H35.7 {source="Orphanet:443079", source="ORDO:443079/ntbt"}
xref: ICD9:362.41 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D056833 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C115124 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:443079 {source="MONDO:equivalentTo"}
xref: SCTID:312956001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0730328 {source="Orphanet:443079", source="MONDO:equivalentTo", source="NCIT:C115124"}
is_a: MONDO:0005283 {source="MESH:D056833", source="MONDOLEX:0018616", source="NCIT:C115124", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D056833
property_value: exactMatch http://identifiers.org/snomedct/312956001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730328
property_value: exactMatch NCIT:C115124
property_value: exactMatch Orphanet:443079
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy xsd:anyURI {source="GARD:0000200"}

[Term]
id: MONDO:0018617
name: baroreflex failure
def: "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." [https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure]
subset: gard_rare {source="GARD:0010664"}
subset: ordo_clinical_syndrome {source="Orphanet:443084"}
xref: GARD:0010664 {source="MONDO:equivalentTo"}
xref: ICD10:G90.4 {source="ORDO:443084/ntbt", source="Orphanet:443084"}
xref: Orphanet:443084 {source="MONDO:equivalentTo"}
xref: UMLS:CN237655 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="Orphanet:443084"} ! autonomic nervous system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0018497"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237655
property_value: exactMatch Orphanet:443084
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure xsd:anyURI {source="GARD:0010664"}

[Term]
id: MONDO:0018618
name: 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
subset: ordo_group_of_disorders {source="Orphanet:443090"}
xref: Orphanet:443090 {source="MONDO:equivalentTo"}
is_a: MONDO:0017970 {source="Orphanet:443090"} ! 46,XY disorder of sex development due to impaired androgen production
property_value: exactMatch Orphanet:443090

[Term]
id: MONDO:0018619
name: hyperinsulinemic hypoglycaemia
subset: ordo_group_of_disorders {source="Orphanet:443095"}
synonym: "hyperinsulinemia hypoglycemia" EXACT [OMIMPS:256450]
xref: OMIMPS:256450 {source="MONDO:equivalentTo"}
xref: Orphanet:443095 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:443095"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch Orphanet:443095

[Term]
id: MONDO:0018620
name: hypothalamic adipsic hypernatraemia syndrome
subset: ordo_disease {source="Orphanet:443101"}
xref: ICD10:E23.3 {source="Orphanet:443101", source="ORDO:443101/ntbt"}
xref: Orphanet:443101 {source="MONDO:equivalentTo"}
xref: UMLS:CN237660 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015889 {source="Orphanet:443101"} ! rare hypothalamic or pituitary disease
is_a: MONDO:0016756 {source="Orphanet:443101"} ! inherited nervous system cancer-predisposing syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237660
property_value: exactMatch Orphanet:443101

[Term]
id: MONDO:0018621
name: lymphoplasmacytic lymphoma without IgM production
subset: ordo_disease {source="Orphanet:443159"}
synonym: "lymphoplasmacytic lymphoma without Immunoglobulin M production" EXACT [Orphanet:443159]
xref: ICD10:C83.0 {source="Orphanet:443159", source="ORDO:443159/ntbt"}
xref: Orphanet:443159 {source="MONDO:equivalentTo"}
is_a: MONDO:0017594 {source="Orphanet:443159"} ! indolent B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:443159

[Term]
id: MONDO:0018622
name: obsolete nut midline carcinoma
is_obsolete: true
replaced_by: MONDO:0005563

[Term]
id: MONDO:0018623
name: postpartum psychosis
alt_id: MONDO:0024269
def: "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." [doi:10.1016/S0140-6736(14)61278-2]
subset: ordo_disease {source="Orphanet:443173"}
synonym: "puerperal psychosis" EXACT [Orphanet:443173]
xref: ICD10:F53 {source="MONDO:equivalentTo"}
xref: ICD10:F53.1 {source="ORDO:443173/ntbt", source="Orphanet:443173"}
xref: ICD9:648.44 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:443173 {source="MONDO:equivalentTo"}
xref: SCTID:18260003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005485 {source="MONDOLEX:0018623", source="linkedlifedata"} ! psychotic disorder
is_a: MONDO:0024575 {source="Orphanet:443173"} ! pregnancy disorder
is_a: MONDO:0044013 {source="linkedlifedata/inferred"} ! puerperal disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520678
property_value: exactMatch http://identifiers.org/snomedct/18260003
property_value: exactMatch Orphanet:443173

[Term]
id: MONDO:0018624
name: spontaneous intracranial hypotension
subset: ordo_disease {source="Orphanet:443180"}
synonym: "spontaneous cerebrospinal fluid leak" EXACT [Orphanet:443180]
xref: ICD10:G96.0 {source="ORDO:443180/e", source="Orphanet:443180"}
xref: Orphanet:443180 {source="MONDO:equivalentTo"}
xref: UMLS:CN237665 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021146 {source="Orphanet:443180"} ! headache disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751731
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3544264
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3850067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237665
property_value: exactMatch Orphanet:443180

[Term]
id: MONDO:0018625
name: classic stiff person syndrome
subset: ordo_clinical_subtype {source="Orphanet:443192"}
synonym: "classic SPS" EXACT [Orphanet:443192]
xref: ICD10:G25.8 {source="ORDO:443192/ntbt", source="Orphanet:443192"}
xref: Orphanet:443192 {source="MONDO:equivalentTo"}
xref: UMLS:CN237666 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008491 {source="MONDOLEX:0018625", source="Orphanet:443192"} ! stiff-person syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237666
property_value: exactMatch Orphanet:443192

[Term]
id: MONDO:0018626
name: paratyphoid fever
def: "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." [NCIT:P378]
subset: ordo_disease {source="Orphanet:443227"}
synonym: "paratyphoid" RELATED [DOID:3055]
synonym: "paratyphoid a" RELATED [DOID:3055]
synonym: "paratyphoid A fever" RELATED [DOID:3055]
synonym: "paratyphoid b" RELATED [DOID:3055]
synonym: "paratyphoid B fever" RELATED [DOID:3055]
synonym: "paratyphoid c" RELATED [DOID:3055]
synonym: "paratyphoid C fever" RELATED [DOID:3055]
synonym: "paratyphoid fever A" RELATED [DOID:3055, ICD9CM_2006:002.1, NCIT:C34894]
synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM_2006:002.2, NCIT:C34895]
synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM_2006:002.3, NCIT:C34896]
xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"}
xref: EFO:0007420 {source="MONDO:equivalentTo"}
xref: ICD10:A01.1 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"}
xref: ICD10:A01.2 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"}
xref: ICD10:A01.3 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"}
xref: ICD10:A01.4 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"}
xref: ICD9:002.1 {source="DOID:3055"}
xref: ICD9:002.2 {source="DOID:3055"}
xref: ICD9:002.3 {source="DOID:3055", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:002.9 {source="DOID:3055"}
xref: MESH:D010284 {source="DOID:3055", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007420"}
xref: NCIT:C34897 {source="DOID:3055", source="MONDO:equivalentTo"}
xref: Orphanet:443227 {source="MONDO:equivalentTo"}
xref: SCTID:51254007 {source="DOID:3055", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.78/0.08"}
xref: UMLS:C0030528 {source="DOID:3055", source="MONDO:equivalentTo", source="Orphanet:443227", source="NCIT:C34897"}
xref: UMLS:C0343375 {source="DOID:3055", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0343376 {source="DOID:3055", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0343377 {source="DOID:3055", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
is_a: MONDO:0000827 {source="Orphanet:443227"} ! salmonellosis
property_value: closeMatch http://identifiers.org/snomedct/154270009
property_value: closeMatch http://identifiers.org/snomedct/186092009
property_value: closeMatch http://identifiers.org/snomedct/187268002
property_value: closeMatch http://identifiers.org/snomedct/266174006
property_value: closeMatch http://identifiers.org/snomedct/71085009
property_value: closeMatch http://identifiers.org/snomedct/76623002
property_value: closeMatch http://identifiers.org/snomedct/85904008
property_value: closeMatch NCIT:C34894
property_value: closeMatch NCIT:C34895
property_value: closeMatch NCIT:C34896
property_value: exactMatch DOID:3055
property_value: exactMatch http://identifiers.org/mesh/D010284
property_value: exactMatch http://identifiers.org/snomedct/51254007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030528
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343375
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343377
property_value: exactMatch NCIT:C34897
property_value: exactMatch Orphanet:443227

[Term]
id: MONDO:0018627
name: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
subset: ordo_group_of_disorders {source="Orphanet:443287"}
xref: Orphanet:443287 {source="MONDO:equivalentTo"}
xref: UMLS:CN237670 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020529 {source="MONDO:Redundant", source="MONDOLEX:0018627", source="Orphanet:443287"} ! ACTH-independent Cushing syndrome
intersection_of: MONDO:0020529 ! ACTH-independent Cushing syndrome
intersection_of: disease_arises_from_feature MONDO:0006174 ! cortisol-producing adrenal cortex adenoma
relationship: disease_arises_from_feature MONDO:0006174 ! cortisol-producing adrenal cortex adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237670
property_value: exactMatch Orphanet:443287

[Term]
id: MONDO:0018628
name: HIV-associated cancer
subset: ordo_clinical_situation {source="Orphanet:443291"}
synonym: "HIV-related cancer" EXACT [Orphanet:443291]
xref: Orphanet:443291 {source="MONDO:equivalentTo"}
xref: UMLS:CN237671 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017341 {source="Orphanet:443291"} ! virus associated tumor
is_a: MONDO:0024571 ! AIDS-related disorder
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0004992 ! cancer
relationship: disease_has_feature MONDO:0004992 ! cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237671
property_value: exactMatch Orphanet:443291

[Term]
id: MONDO:0018629
name: focal stiff limb syndrome
subset: ordo_clinical_subtype {source="Orphanet:443804"}
synonym: "focal stiff-person syndrome" EXACT [Orphanet:443804]
synonym: "Stiff leg syndrome" EXACT [Orphanet:443804]
xref: ICD10:G25.8 {source="ORDO:443804/ntbt", source="Orphanet:443804"}
xref: Orphanet:443804 {source="MONDO:equivalentTo"}
xref: UMLS:CN237672 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0008491 {source="MONDOLEX:0018629", source="Orphanet:443804"} ! stiff-person syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237672
property_value: exactMatch Orphanet:443804

[Term]
id: MONDO:0018630
name: hereditary nonpolyposis colon cancer
def: "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." [Orphanet:443909]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:443909"}
synonym: "colorectal cancer, hereditary nonpolyposis" EXACT [OMIMPS:120435]
synonym: "familial nonpolyposis colon cancer" EXACT [Orphanet:443909]
synonym: "familial nonpolyposis colorectal cancer" EXACT [Orphanet:443909]
synonym: "hereditary nonpolyposis colon cancer" EXACT [NCIT:C120083]
synonym: "hereditary nonpolyposis colorectal cancer" EXACT [NCIT:C120083, Orphanet:443909]
synonym: "Hereditary nonpolyposis colorectal cancer (HNPCC)" EXACT [NCIT:C120083]
synonym: "HNPCC" EXACT [NCIT:C120083, Orphanet:443909]
xref: NCIT:C120083 {source="MONDO:equivalentTo", source="kboom:pr0.75-conf3.46"}
xref: OMIMPS:120435 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:443909 {source="MONDO:equivalentTo"}
xref: SCTID:315058005 {source="MONDO:equivalentTo"}
xref: UMLS:CN237674 {source="MONDO:equivalentTo"}
is_a: MONDO:0017128 {source="Orphanet:443909"} ! inherited digestive tract tumor
is_a: MONDO:0018538 {source="Orphanet:443909"} ! inherited digestive cancer-predisposing syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009405
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1112155
property_value: exactMatch http://identifiers.org/snomedct/315058005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237674
property_value: exactMatch NCIT:C120083
property_value: exactMatch Orphanet:443909

[Term]
id: MONDO:0018631
name: Marie Unna hereditary hypotrichosis
def: "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." [Orphanet:444]
subset: ordo_disease {source="Orphanet:444"}
synonym: "hypotrichosis, Marie Unna type" EXACT [Orphanet:444]
synonym: "Marie Unna congenital hypotrichosis" EXACT [Orphanet:444]
synonym: "MUHH" EXACT [Orphanet:444]
xref: GARD:0003390 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q84.0 {source="Orphanet:444", source="ORDO:444/attributed", source="ORDO:444/ntbt"}
xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:444/e"}
xref: Orphanet:444 {source="MONDO:equivalentTo"}
xref: UMLS:C2931059 {source="Orphanet:444", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="ORDO:444/e"}
is_a: MONDO:0004907 {source="Orphanet:444"} ! alopecia
property_value: exactMatch http://identifiers.org/mesh/C535912
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931059
property_value: exactMatch Orphanet:444

[Term]
id: MONDO:0018632
name: 11q22.2q22.3 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:444002"}
synonym: "11q22.2-q22.3 deletion syndrome" EXACT [Orphanet:444002]
synonym: "Del(11)(q22.2q22.3)" EXACT [Orphanet:444002]
synonym: "monosomy 11q22.2-q22.3" EXACT [Orphanet:444002]
synonym: "monosomy 11q22.2q22.3" EXACT [Orphanet:444002]
xref: ICD10:Q93.5 {source="Orphanet:444002", source="ORDO:444002/attributed", source="ORDO:444002/ntbt"}
xref: Orphanet:444002 {source="MONDO:equivalentTo"}
xref: UMLS:CN237678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444002", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:444002"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016910 {source="MONDOLEX:0018632", source="Orphanet:444002"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237678
property_value: exactMatch Orphanet:444002

[Term]
id: MONDO:0018633
name: 20q11.2 microdeletion syndrome
def: "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." [Orphanet:444051]
subset: ordo_malformation_syndrome {source="Orphanet:444051"}
synonym: "Del(20)(q11.2)" EXACT [Orphanet:444051]
synonym: "monosomy 20q11" EXACT [Orphanet:444051]
xref: ICD10:Q93.5 {source="ORDO:444051/attributed", source="ORDO:444051/ntbt", source="Orphanet:444051"}
xref: Orphanet:444051 {source="MONDO:equivalentTo"}
xref: UMLS:CN237681 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444051", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:444051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016918 {source="Orphanet:444051"} ! partial deletion of the long arm of chromosome 20
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237681
property_value: exactMatch Orphanet:444051

[Term]
id: MONDO:0018634
name: hereditary amyloidosis
def: "Hereditary amyloidosis refers toa group of inherited conditions that make up one of the subtypes of amyloidosis .Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid inmultiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." [https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis]
subset: gard_rare {source="GARD:0006611"}
subset: ordo_group_of_disorders {source="Orphanet:444116"}
synonym: "amyloidosis hereditary" RELATED [GARD:0006611]
synonym: "amyloidosis, Familial" EXACT [NCIT:C84555]
synonym: "familial amyloidosis" RELATED [GARD:0006611]
synonym: "hereditary amyloidosis (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:0006611 {source="MONDO:equivalentTo"}
xref: MESH:D028226 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84555 {source="MONDO:equivalentTo"}
xref: Orphanet:444116 {source="MONDO:equivalentTo"}
xref: SCTID:367601000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C0206246 {source="Orphanet:444116", source="MONDO:equivalentTo"}
is_a: MONDO:0017133 {source="MONDO:Redundant", source="Orphanet:444116"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019052 {source="MESH:D028226", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inborn errors of metabolism
is_a: MONDO:0019065 {source="MESH:D028226", source="MONDO:Redundant", source="NCIT:C84555", source="OWLReasoner:2017"} ! amyloidosis (disease)
intersection_of: MONDO:0019065 ! amyloidosis (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D028226
property_value: exactMatch http://identifiers.org/snomedct/367601000119103
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206246
property_value: exactMatch NCIT:C84555
property_value: exactMatch Orphanet:444116
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis xsd:anyURI {source="GARD:0006611"}

[Term]
id: MONDO:0018635
name: idiopathic phalangeal acro-osteolysis
subset: ordo_disease {source="Orphanet:444316"}
synonym: "idiopathic phalangeal acroosteolysis" EXACT [Orphanet:444316]
xref: ICD10:M89.5 {source="ORDO:444316/ntbt", source="Orphanet:444316"}
xref: Orphanet:444316 {source="MONDO:equivalentTo"}
is_a: MONDO:0005380 {source="Orphanet:444316"} ! osteonecrosis
property_value: exactMatch Orphanet:444316

[Term]
id: MONDO:0018636
name: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
subset: ordo_disease {source="Orphanet:444463"}
synonym: "Evans syndrome associated with primary immunodeficiency" EXACT [Orphanet:444463]
synonym: "TPPII deficiency" EXACT [Orphanet:444463]
synonym: "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease" EXACT [Orphanet:444463]
synonym: "triangle disease" EXACT [Orphanet:444463]
synonym: "tripeptidyl-peptidase II deficiency" EXACT [Orphanet:444463]
xref: ICD10:D61.0 {source="MONDO:relatedTo", source="ORDO:444463/attributed", source="ORDO:444463/ntbt", source="Orphanet:444463"}
xref: Orphanet:444463 {source="MONDO:equivalentTo"}
xref: UMLS:CN237691 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015709 {source="Orphanet:444463"} ! immunodeficiency syndrome with autoimmunity
is_a: MONDO:0015939 {source="Orphanet:444463"} ! systemic autoimmune disease
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237691
property_value: exactMatch Orphanet:444463

[Term]
id: MONDO:0018637
name: familial chylomicronemia syndrome
subset: ordo_disease {source="Orphanet:444490"}
xref: ICD10:E78.3 {source="ORDO:444490/ntbt", source="Orphanet:444490", source="ORDO:444490/inclusion"}
xref: Orphanet:444490 {source="MONDO:equivalentTo"}
xref: UMLS:CN231410 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015902 {source="Orphanet:444490"} ! major hypertriglyceridemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231410
property_value: exactMatch Orphanet:444490

[Term]
id: MONDO:0018638
name: pseudohypoaldosteronism
def: "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." [NCIT:C85034]
subset: ordo_group_of_disorders {source="Orphanet:444916"}
xref: DOID:4479 {source="MONDO:equivalentTo"}
xref: ICD9:255.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D011546 {source="DOID:4479", source="MONDO:equivalentTo"}
xref: NCIT:C85034 {source="DOID:4479", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:444916 {source="MONDO:equivalentTo"}
xref: SCTID:77098009 {source="DOID:4479", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0033805 {source="DOID:4479", source="MONDO:equivalentTo", source="NCIT:C85034", source="Orphanet:444916"}
is_a: MONDO:0006510 {source="DOID:4479", source="MESH:D011546"} ! renal tubular transport disease
property_value: exactMatch DOID:4479
property_value: exactMatch http://identifiers.org/mesh/D011546
property_value: exactMatch http://identifiers.org/snomedct/77098009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033805
property_value: exactMatch NCIT:C85034
property_value: exactMatch Orphanet:444916

[Term]
id: MONDO:0018639
name: caudal regression-sirenomelia spectrum
def: "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." [Orphanet:444941]
subset: ordo_group_of_disorders {source="Orphanet:444941"}
xref: Orphanet:444941 {source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:444941"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0015246 {source="Orphanet:444941"} ! syndromic anorectal malformation
is_a: MONDO:0015620 {source="Orphanet:444941"} ! syndromic urogenital tract malformation
property_value: exactMatch Orphanet:444941

[Term]
id: MONDO:0018640
name: secondary vasculitis
subset: ordo_group_of_disorders {source="Orphanet:445197"}
xref: Orphanet:445197 {source="MONDO:equivalentTo"}
is_a: MONDO:0018882 {source="Orphanet:445197"} ! vasculitis
property_value: exactMatch Orphanet:445197

[Term]
id: MONDO:0018641
name: paroxysmal nocturnal hemoglobinuria
def: "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." [Orphanet:447]
subset: gard_rare {source="GARD:0007337"}
subset: ordo_disease {source="Orphanet:447"}
synonym: "Marchiafava-Micheli disease" EXACT [Orphanet:447]
synonym: "paroxysmal hemoglobinuria" EXACT [NCIT:C61233]
synonym: "PNH" EXACT [Orphanet:447]
xref: DOID:0060284 {source="MONDO:equivalentTo"}
xref: GARD:0007337 {source="MONDO:equivalentTo"}
xref: HGNC:8957 {source="GARD:0007337"}
xref: HP:0004818 {source="MONDO:otherHierarchy", source="DOID:0060284"}
xref: ICD10:D59.1 {source="DOID:0060284"}
xref: ICD10:D59.5 {source="ORDO:447/e", source="Orphanet:447", source="ORDO:447/specific", source="DOID:0060284"}
xref: ICD10:D59.6 {source="DOID:0060284"}
xref: MedDRA:10034042 {source="ORDO:447/e", source="Orphanet:447"}
xref: NCIT:C61233 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0060284"}
xref: OMIMPS:300818 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:447 {source="MONDO:equivalentTo", source="DOID:0060284"}
xref: SCTID:1963002 {source="MONDO:equivalentTo", source="DOID:0060284", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0019050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0060284"}
xref: UMLS:C0024790 {source="ORDO:447/e", source="Orphanet:447", source="MONDO:equivalentTo", source="NCIT:C61233", source="DOID:0060284"}
is_a: MONDO:0003656 {source="DOID:0060284"} ! hemoglobinuria
is_a: MONDO:0003664 {source="Orphanet:447"} ! hemolytic anemia
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0015610 {source="Orphanet:447"} ! acquired aplastic anemia
is_a: MONDO:0024321 {source="MONDO:cjm", source="https://github.com/monarch-initiative/mondo/issues/134"} ! disorder of GPI anchor biosynthesis
relationship: excluded_subClassOf MONDO:0017748 {source="Orphanet:447", source="https://github.com/monarch-initiative/mondo/issues/134"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
property_value: closeMatch http://identifiers.org/snomedct/1468004
property_value: closeMatch http://identifiers.org/snomedct/154805009
property_value: closeMatch http://identifiers.org/snomedct/191223003
property_value: closeMatch http://identifiers.org/snomedct/191224009
property_value: closeMatch http://identifiers.org/snomedct/191226006
property_value: closeMatch http://identifiers.org/snomedct/234377003
property_value: closeMatch http://identifiers.org/snomedct/267559009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086774
property_value: exactMatch DOID:0060284
property_value: exactMatch http://identifiers.org/meddra/10034042
property_value: exactMatch http://identifiers.org/mesh/D006457
property_value: exactMatch http://identifiers.org/snomedct/1963002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024790
property_value: exactMatch NCIT:C61233
property_value: exactMatch Orphanet:447
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria xsd:anyURI {source="GARD:0007337"}

[Term]
id: MONDO:0018642
name: NIK deficiency
def: "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." [doi:10.1038/ncomms6360]
subset: ordo_disease {source="Orphanet:447731"}
synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern]
synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731]
xref: ICD10:D81.8 {source="Orphanet:447731", source="ORDO:447731/attributed", source="ORDO:447731/ntbt"}
xref: Orphanet:447731 {source="MONDO:equivalentTo"}
is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731"} ! non-severe combined immunodeficiency
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch Orphanet:447731

[Term]
id: MONDO:0018643
name: susceptibility to localized juvenile periodontitis
subset: ordo_disease {source="Orphanet:447740"}
subset: predisposition
xref: ICD10:D71 {source="ORDO:447740/attributed", source="ORDO:447740/ntbt", source="Orphanet:447740"}
xref: Orphanet:447740 {source="MONDO:equivalentTo"}
is_a: MONDO:0015978 {source="Orphanet:447740"} ! functional neutrophil defect
property_value: exactMatch Orphanet:447740

[Term]
id: MONDO:0018644
name: autosomal dominant complex spastic paraplegia type 9B
comment: Editor note: check this
subset: ordo_clinical_subtype {source="Orphanet:447757"}
synonym: "AD-SPG9B" EXACT [Orphanet:447757]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:447757", source="ORDO:447757/attributed", source="ORDO:447757/ntbt"}
xref: Orphanet:447757 {source="MONDO:equivalentTo"}
xref: UMLS:CN237702 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015091 {source="Orphanet:447757"} ! autosomal dominant spastic paraplegia type 9
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237702
property_value: exactMatch Orphanet:447757

[Term]
id: MONDO:0018645
name: IgG4-related sclerosing cholangitis
subset: ordo_disease {source="Orphanet:447764"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="Orphanet:447764", source="ORDO:447764/ntbt"}
xref: Orphanet:447764 {source="MONDO:equivalentTo"}
xref: SCTID:722870008 {source="MONDO:equivalentTo"}
xref: UMLS:C4302109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0017287 {source="Orphanet:447764"} ! IgG4-related disease
is_a: MONDO:0018646 {source="MONDOLEX:0018645", source="Orphanet:447764", source="linkedlifedata/inferred"} ! sclerosing cholangitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/722870008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302109
property_value: exactMatch Orphanet:447764

[Term]
id: MONDO:0018646
name: sclerosing cholangitis (disease)
def: "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:447771"}
synonym: "fibrosing cholangitis" EXACT [CSP2005:5000-0057, DOID:14268]
synonym: "Primary sclerosing cholangitis" EXACT [NCIT:C4828]
synonym: "Primary sclerosing cholangitis" RELATED [NCIT:C4828]
synonym: "primary sclerosing cholangitis (PSC)" EXACT [NCIT:C4828]
synonym: "sclerosing cholangitis" EXACT [MONDO:ambiguous]
xref: DOID:14268 {source="EFO:0004268", source="MONDO:equivalentTo"}
xref: EFO:0004268 {source="MONDO:equivalentTo", source="DOID:14268"}
xref: HP:0030991 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="DOID:14268"}
xref: NCIT:C4828 {source="EFO:0004268", source="MONDO:kboom-pr-0.94/0.76/1.62", source="MONDO:equivalentTo"}
xref: Orphanet:447771 {source="MONDO:equivalentTo"}
xref: SCTID:235917005 {source="EFO:0004268", source="MONDO:equivalentTo", source="DOID:14268", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0008313 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="DOID:14268", source="Orphanet:447771"}
is_a: MONDO:0004789 {source="DOID:14268", source="NCIT:C4828", source="linkedlifedata"} ! cholangitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D015209
property_value: closeMatch http://identifiers.org/snomedct/197443000
property_value: closeMatch http://identifiers.org/snomedct/4032000
property_value: exactMatch DOID:14268
property_value: exactMatch http://identifiers.org/snomedct/235917005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008313
property_value: exactMatch NCIT:C4828
property_value: exactMatch Orphanet:447771

[Term]
id: MONDO:0018647
name: secondary sclerosing cholangitis
subset: ordo_disease {source="Orphanet:447774"}
xref: ICD10:K83.0 {source="MONDO:subClassOf", source="ORDO:447774/ntbt", source="Orphanet:447774"}
xref: Orphanet:447774 {source="MONDO:equivalentTo"}
xref: SCTID:197442005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0400978 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018646 {source="MONDOLEX:0018647", source="Orphanet:447774", source="linkedlifedata"} ! sclerosing cholangitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/197442005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400978
property_value: exactMatch Orphanet:447774

[Term]
id: MONDO:0018648
name: Keratocystic odontogenic tumor
def: "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." [NCIT:C54302]
subset: ordo_disease {source="Orphanet:447777"}
synonym: "KTOC" EXACT [Orphanet:447777]
synonym: "odontogenic Keratocyst" EXACT [NCIT:C54302]
synonym: "odontogenic keratocystoma" EXACT [Orphanet:447777]
xref: ICD10:D16.4 {source="Orphanet:447777", source="ORDO:447777/ntbt"}
xref: NCIT:C54302 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:447777 {source="MONDO:equivalentTo"}
xref: SCTID:713277006 {source="MONDO:equivalentTo"}
xref: UMLS:C1708604 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C54302"}
xref: UMLS:CN237705 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021192 {source="Orphanet:447777"} ! odontogenic neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0017797"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/713277006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237705
property_value: exactMatch NCIT:C54302
property_value: exactMatch Orphanet:447777

[Term]
id: MONDO:0018649
name: cerebral visual impairment
def: "A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." [NCIT:C35275]
subset: ordo_clinical_syndrome {source="Orphanet:447788"}
synonym: "cortical visual impairment" EXACT [Orphanet:447788]
synonym: "visual cortex disorder" EXACT [NCIT:C35275]
xref: ICD10:H47.6 {source="Orphanet:447788", source="ORDO:447788/ntbt", source="MONDO:directSiblingOf"}
xref: NCIT:C35275 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:447788 {source="MONDO:equivalentTo"}
xref: SCTID:413924001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN237707 {source="MONDO:equivalentTo"}
is_a: MONDO:0020676 {source="Orphanet:447788"} ! disease of central nervous system or retinal vasculature
is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C35275", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder
is_a: MONDO:0043218 ! neurovascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120", source="MONDO:0019110"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/413924001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237707
property_value: exactMatch NCIT:C35275
property_value: exactMatch Orphanet:447788

[Term]
id: MONDO:0018650
name: obsolete hemochromatosis type 5
is_obsolete: true
replaced_by: MONDO:0014225

[Term]
id: MONDO:0018651
name: lipoyl transferase 2 deficiency
subset: ordo_biological_anomaly {source="Orphanet:447795"}
xref: Orphanet:447795 {source="MONDO:equivalentTo"}
is_a: MONDO:0018652 {source="Orphanet:447795"} ! biological anomaly without phenotypic characterization
property_value: exactMatch Orphanet:447795

[Term]
id: MONDO:0018652
name: biological anomaly without phenotypic characterization
subset: ordo_group_of_disorders {source="Orphanet:447874"}
xref: Orphanet:447874 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="Orphanet:447874", source="Orphanet:466084"} ! disease or disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198"} ! rare
property_value: exactMatch Orphanet:447874

[Term]
id: MONDO:0018653
name: Polymerase proofreading-related adenomatous polyposis
subset: ordo_clinical_subtype {source="Orphanet:447877"}
synonym: "PPAP" EXACT [Orphanet:447877]
xref: ICD10:D12.6 {source="Orphanet:447877", source="ORDO:447877/attributed", source="ORDO:447877/ntbt"}
xref: Orphanet:447877 {source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="Orphanet:447877"} ! attenuated familial adenomatous polyposis
property_value: exactMatch Orphanet:447877

[Term]
id: MONDO:0018654
name: idiopathic dropped head syndrome
subset: ordo_clinical_syndrome {source="Orphanet:447881"}
synonym: "isolated neck extensor myopathy" EXACT [Orphanet:447881]
xref: Orphanet:447881 {source="MONDO:equivalentTo"}
xref: UMLS:CN237712 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016105 {source="Orphanet:447881"} ! acquired skeletal muscle disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237712
property_value: exactMatch Orphanet:447881

[Term]
id: MONDO:0018655
name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
subset: ordo_disease {source="Orphanet:447893"}
xref: ICD10:E75.2 {source="Orphanet:447893", source="ORDO:447893/attributed", source="ORDO:447893/ntbt"}
xref: Orphanet:447893 {source="MONDO:equivalentTo"}
xref: UMLS:CN237713 {source="MONDO:equivalentTo"}
is_a: MONDO:0017122 {source="Orphanet:447893"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
relationship: excluded_subClassOf MONDO:0011897 ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237713
property_value: exactMatch Orphanet:447893

[Term]
id: MONDO:0018656
name: tremor-ataxia-central hypomyelination syndrome
subset: ordo_disease {source="Orphanet:447896"}
synonym: "tach syndrome" EXACT [Orphanet:447896]
xref: ICD10:E75.2 {source="Orphanet:447896", source="ORDO:447896/attributed", source="ORDO:447896/ntbt"}
xref: Orphanet:447896 {source="MONDO:equivalentTo"}
xref: UMLS:CN237714 {source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:447896"} ! hereditary ataxia
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0018609 {source="Orphanet:447896"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0022687 ! cerebellar degeneration
relationship: excluded_subClassOf MONDO:0011897 ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237714
property_value: exactMatch Orphanet:447896

[Term]
id: MONDO:0018657
name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
subset: ordo_disease {source="Orphanet:447961"}
synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK" RELATED [OMIM:618373]
xref: OMIM:618373 {source="MONDO:equivalentTo"}
xref: Orphanet:447961 {source="MONDO:equivalentTo", source="OMIM:618373"}
xref: UMLS:CN237716 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:447961"} ! hereditary neoplastic syndrome
is_a: MONDO:0017671 {source="Orphanet:447961"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019183 {source="Orphanet:447961"} ! inherited odontologic disease
is_a: MONDO:0019287 {source="Orphanet:447961"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019288 {source="Orphanet:447961"} ! skin pigmentation disease
is_a: MONDO:0020014 {source="Orphanet:447961"} ! rare disease with odontological manifestation
is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:447961"} ! genetic alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193062
property_value: exactMatch http://identifiers.org/omim/618373
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237716
property_value: exactMatch Orphanet:447961

[Term]
id: MONDO:0018658
name: 19p13.3 microduplication syndrome
def: "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." [Orphanet:447980]
subset: ordo_malformation_syndrome {source="Orphanet:447980"}
synonym: "dup(19)(p13.13)" EXACT [Orphanet:447980]
xref: ICD10:Q92.3 {source="ORDO:447980/attributed", source="ORDO:447980/ntbt", source="Orphanet:447980"}
xref: Orphanet:447980 {source="MONDO:equivalentTo"}
xref: UMLS:CN237720 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0013336 ! chromosome 19p13.13 deletion syndrome
is_a: MONDO:0018659 {source="Orphanet:447980"} ! partial duplication of the short arm of chromosome 19
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237720
property_value: exactMatch Orphanet:447980

[Term]
id: MONDO:0018659
name: partial duplication of the short arm of chromosome 19
subset: ordo_group_of_disorders {source="Orphanet:447985"}
synonym: "partial duplication of chromosome 19p" EXACT [Orphanet:447985]
synonym: "partial duplication of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:447985]
synonym: "partial trisomy of chromosome 19p" EXACT [Orphanet:447985]
synonym: "partial trisomy of the short arm of chromosome 19" EXACT [Orphanet:447985]
xref: Orphanet:447985 {source="MONDO:equivalentTo"}
is_a: MONDO:0016937 {source="Orphanet:447985"} ! partial duplication of chromosome 19
property_value: exactMatch Orphanet:447985

[Term]
id: MONDO:0018660
name: hemophilia
def: "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." [Orphanet:448]
subset: ordo_group_of_disorders {source="Orphanet:448"}
xref: GARD:0010418 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MedDRA:10061992 {source="ORDO:448/e", source="Orphanet:448"}
xref: NCIT:C3093 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.59/1.32"}
xref: Orphanet:448 {source="MONDO:equivalentTo"}
xref: SCTID:90935002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.64/0.11"}
xref: UMLS:C0684275 {source="ORDO:448/e", source="Orphanet:448", source="MONDO:equivalentTo", source="NCIT:C3093"}
is_a: MONDO:0002242 {source="NCIT:C3093"} ! coagulation protein disease
relationship: excluded_subClassOf MONDO:0019039 {source="Orphanet:448"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
property_value: exactMatch http://identifiers.org/meddra/10061992
property_value: exactMatch http://identifiers.org/snomedct/90935002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684275
property_value: exactMatch NCIT:C3093
property_value: exactMatch Orphanet:448

[Term]
id: MONDO:0018661
name: Zika virus infectious disease
def: "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." [Orphanet:448237]
subset: gard_rare
subset: ordo_disease {source="Orphanet:448237"}
synonym: "congenital Zika syndrome" NARROW [MESH:D000071243]
synonym: "congenital Zika virus infection" NARROW [MESH:D000071243]
synonym: "fever, Zika" RELATED [MESH:D000071243]
synonym: "Zika" EXACT [NCIT:C128423]
synonym: "Zika fever" RELATED [DOID:0060478, GARD:0012894]
synonym: "Zika virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Zika virus disease" EXACT [DOID:0060478, GARD:0012894]
synonym: "Zika virus disease or disorder" EXACT []
synonym: "Zika virus infection" EXACT [Orphanet:448237]
synonym: "Zika virus infectious disease" EXACT []
synonym: "ZikV infection" EXACT [MESH:D000071243]
xref: DOID:0060478 {source="MONDO:equivalentTo"}
xref: GARD:0012894 {source="MONDO:equivalentTo"}
xref: ICD10:A92.5 {source="MONDO:equivalentTo"}
xref: ICD10:A92.8 {source="GARD:0012894", source="DOID:0060478"}
xref: ICD10:U06 {source="Orphanet:448237", source="DOID:0060478", source="ORDO:448237/e"}
xref: MESH:D000071243 {source="MONDO:equivalentTo", source="DOID:0060478", source="MONDO:ontobio"}
xref: NCIT:C128423 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:448237 {source="MONDO:equivalentTo"}
xref: SCTID:3928002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0276289 {source="GARD:0012894", source="MONDO:equivalentTo", source="NCIT:C128423", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN237724 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0003799 {source="Wikidata"} ! conjunctivitis (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: exactMatch DOID:0060478
property_value: exactMatch http://identifiers.org/mesh/D000071243
property_value: exactMatch http://identifiers.org/snomedct/3928002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237724
property_value: exactMatch NCIT:C128423
property_value: exactMatch Orphanet:448237

[Term]
id: MONDO:0018662
name: autosomal recessive brachyolmia
def: "Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." [Orphanet:448242]
subset: ordo_malformation_syndrome {source="Orphanet:448242"}
synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242]
xref: ICD10:Q76.3 {source="ORDO:448242/attributed", source="ORDO:448242/ntbt", source="Orphanet:448242"}
xref: Orphanet:448242 {source="MONDO:equivalentTo"}
xref: UMLS:CN237725 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015262 {source="MONDO:Redundant", source="Orphanet:448242"} ! brachyolmia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237725
property_value: exactMatch Orphanet:448242

[Term]
id: MONDO:0018663
name: regressive spondylometaphyseal dysplasia
subset: ordo_malformation_syndrome {source="Orphanet:448267"}
xref: ICD10:Q77.8 {source="Orphanet:448267", source="ORDO:448267/attributed", source="ORDO:448267/ntbt"}
xref: OMIM:618019 {source="MONDO:equivalentTo"}
xref: Orphanet:448267 {source="MONDO:equivalentTo"}
xref: UMLS:CN248525 {source="MONDO:equivalentTo"}
is_a: MONDO:0016763 {source="MONDOLEX:0018663", source="Orphanet:448267"} ! spondylometaphyseal dysplasia
property_value: exactMatch http://identifiers.org/omim/618019
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248525
property_value: exactMatch Orphanet:448267

[Term]
id: MONDO:0018664
name: ectopia cordis (disease)
def: "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." [NCIT:C111643]
subset: ordo_morphological_anomaly {source="Orphanet:448270"}
synonym: "ectopia cordis" EXACT [MONDO:ambiguous]
xref: HP:0001683 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q24.8 {source="Orphanet:448270", source="ORDO:448270/ntbt"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D054083 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C111643 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:448270 {source="MONDO:equivalentTo"}
xref: SCTID:78250005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019512 {source="Orphanet:448270"} ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013580
property_value: exactMatch http://identifiers.org/mesh/D054083
property_value: exactMatch http://identifiers.org/snomedct/78250005
property_value: exactMatch NCIT:C111643
property_value: exactMatch Orphanet:448270

[Term]
id: MONDO:0018665
name: X-linked acrogigantism due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:448348"}
synonym: "familial infantile gigantism due to a point mutation" EXACT [Orphanet:448348]
synonym: "X-LAG (X-linked acrogigantism) due to a point mutation" EXACT [Orphanet:448348]
xref: ICD10:E22.0 {source="Orphanet:448348", source="ORDO:448348/attributed", source="ORDO:448348/ntbt"}
xref: Orphanet:448348 {source="MONDO:equivalentTo"}
xref: UMLS:CN237730 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017581 {source="Orphanet:448348"} ! familial infantile gigantism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237730
property_value: exactMatch Orphanet:448348

[Term]
id: MONDO:0018666
name: hepatoblastoma
def: "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy (see these terms)." [Orphanet:449]
subset: ordo_disease {source="Orphanet:449"}
synonym: "HBL" EXACT [DOID:687, NCIT:C3728]
synonym: "hepatoblastoma" EXACT [NCIT:C3728]
synonym: "hepatoblastoma, malignant" EXACT [NCIT:C3728]
synonym: "pediatric embryonal hepatoma" EXACT [NCIT:C3728]
synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728]
xref: DOID:687 {source="MONDO:equivalentTo"}
xref: EFO:1000292 {source="MONDO:equivalentTo"}
xref: GARD:0002657 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C22.2 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449"}
xref: ICDO:8970/3 {source="NCIT:C3728"}
xref: MedDRA:10062001 {source="ORDO:449/e", source="Orphanet:449"}
xref: MESH:D018197 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"}
xref: NCIT:C3728 {source="DOID:687", source="MONDO:equivalentTo", source="EFO:1000292"}
xref: ONCOTREE:LIHB {source="MONDO:equivalentTo"}
xref: Orphanet:449 {source="MONDO:equivalentTo"}
xref: UMLS:C0206624 {source="DOID:687", source="NCIT:C3728", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"}
is_a: MONDO:0005564 {source="EFO:1000292", source="NCIT:C3728"} ! embryonal neoplasm
is_a: MONDO:0007256 ! hepatocellular carcinoma
property_value: closeMatch http://identifiers.org/snomedct/109843000
property_value: closeMatch http://identifiers.org/snomedct/45024009
property_value: exactMatch DOID:687
property_value: exactMatch http://identifiers.org/meddra/10062001
property_value: exactMatch http://identifiers.org/mesh/D018197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206624
property_value: exactMatch NCIT:C3728
property_value: exactMatch Orphanet:449

[Term]
id: MONDO:0018667
name: pleural empyema (disease)
def: "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." [NCIT:P378]
subset: ordo_clinical_situation {source="Orphanet:449266"}
synonym: "abscess of pleural cavity" EXACT [DOID:3798]
synonym: "abscess of thorax" RELATED [DOID:3798]
synonym: "empyema" RELATED [DOID:3798]
synonym: "empyema of pleura" EXACT [DOID:3798]
synonym: "pleural empyema" EXACT [MONDO:ambiguous]
synonym: "purulent pleurisy" RELATED [DOID:3798]
synonym: "purulent pleuritis" RELATED [DOID:3798]
synonym: "pyothorax" RELATED [DOID:3798]
synonym: "thorax abscess" RELATED [DOID:3798]
xref: DOID:3798 {source="MONDO:equivalentTo"}
xref: HP:0011919 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J86 {source="DOID:3798"}
xref: ICD10:J86.9 {source="DOID:3798"}
xref: Orphanet:449266 {source="MONDO:equivalentTo"}
xref: SCTID:405950009 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo", source="DOID:3798"}
is_a: MONDO:0002037 {source="DOID:3798"} ! pleural disease
property_value: closeMatch http://identifiers.org/mesh/D016724
property_value: closeMatch http://identifiers.org/snomedct/155604003
property_value: closeMatch http://identifiers.org/snomedct/196058009
property_value: closeMatch http://identifiers.org/snomedct/196068004
property_value: closeMatch http://identifiers.org/snomedct/196069007
property_value: closeMatch http://identifiers.org/snomedct/196070008
property_value: closeMatch http://identifiers.org/snomedct/196071007
property_value: closeMatch http://identifiers.org/snomedct/196072000
property_value: closeMatch http://identifiers.org/snomedct/196074004
property_value: closeMatch http://identifiers.org/snomedct/271502000
property_value: closeMatch http://identifiers.org/snomedct/271506002
property_value: closeMatch http://identifiers.org/snomedct/405951008
property_value: closeMatch http://identifiers.org/snomedct/58554001
property_value: closeMatch http://identifiers.org/snomedct/69947005
property_value: closeMatch http://identifiers.org/snomedct/75952005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014013
property_value: closeMatch NCIT:C45692
property_value: exactMatch DOID:3798
property_value: exactMatch http://identifiers.org/snomedct/405950009
property_value: exactMatch Orphanet:449266

[Term]
id: MONDO:0018668
name: scedosporiosis
subset: ordo_disease {source="Orphanet:449280"}
xref: ICD10:B48.7 {source="Orphanet:449280", source="ORDO:449280/ntbt"}
xref: Orphanet:449280 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="Orphanet:449280"} ! fungal infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: exactMatch Orphanet:449280

[Term]
id: MONDO:0018669
name: snakebite envenomation
subset: ordo_clinical_situation {source="Orphanet:449285"}
synonym: "poisoning by venomous snake" EXACT []
synonym: "poisoning caused by venomous snake" RELATED []
synonym: "snake bite poisoning" RELATED []
synonym: "snake venom causing toxic effect" RELATED []
synonym: "snake venom poisoning" RELATED []
synonym: "toxic effect of bite of venomous snake" RELATED []
xref: ICD10:T63.0 {source="ORDO:449285/e", source="Orphanet:449285"}
xref: Orphanet:449285 {source="MONDO:equivalentTo"}
xref: SCTID:61288004 {source="MONDO:equivalentTo"}
xref: UMLS:CN237735 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:449285", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/61288004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237735
property_value: exactMatch Orphanet:449285

[Term]
id: MONDO:0018670
name: symptomatic form of fragile X syndrome in female carrier
subset: ordo_disease {source="Orphanet:449291"}
xref: ICD10:Q99.2 {source="Orphanet:449291", source="ORDO:449291/attributed", source="ORDO:449291/ntbt"}
xref: Orphanet:449291 {source="MONDO:equivalentTo"}
xref: UMLS:CN237736 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010383 ! fragile X syndrome
is_a: MONDO:0010706 ! premature ovarian failure 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237736
property_value: exactMatch Orphanet:449291

[Term]
id: MONDO:0018671
name: IgG4-related kidney disease
subset: ordo_disease {source="Orphanet:449395"}
xref: ICD10:N11.8 {source="ORDO:449395/ntbt", source="Orphanet:449395"}
xref: Orphanet:449395 {source="MONDO:equivalentTo"}
xref: UMLS:CN237737 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017287 {source="Orphanet:449395"} ! IgG4-related disease
is_a: MONDO:0019724 {source="Orphanet:449395"} ! secondary glomerular disease
is_a: MONDO:0019744 {source="Orphanet:449395"} ! rare renal tubular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237737
property_value: exactMatch Orphanet:449395

[Term]
id: MONDO:0018672
name: IgG4-related aortitis
subset: ordo_disease {source="Orphanet:449400"}
synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400]
xref: ICD10:I77.6 {source="Orphanet:449400", source="ORDO:449400/ntbt"}
xref: Orphanet:449400 {source="MONDO:equivalentTo"}
is_a: MONDO:0017287 {source="Orphanet:449400"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch Orphanet:449400

[Term]
id: MONDO:0018673
name: IgG4-related pachymeningitis
def: "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease) , and autoimmune diseases ( rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment . Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." [GARD:0013256]
subset: gard_rare
subset: ordo_disease {source="Orphanet:449427"}
synonym: "idiopathic hypertrophic cranial pachymeningitis" RELATED [GARD:0013256]
synonym: "idiopathic hypertrophic craniospinal pachymeningitis" RELATED [GARD:0013256]
synonym: "idiopathic hypertrophic pachymeningitis" EXACT [Orphanet:449427]
synonym: "idiopathic hypertrophic spinal pachymeningitis" RELATED [GARD:0013256]
xref: GARD:0013256 {source="MONDO:equivalentTo"}
xref: ICD10:G03.9 {source="Orphanet:449427", source="ORDO:449427/ntbt"}
xref: Orphanet:449427 {source="MONDO:equivalentTo"}
xref: SCTID:762282007 {source="MONDO:equivalentTo"}
xref: UMLS:C4545992 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0015144 {source="Orphanet:449427"} ! brain inflammatory disease
is_a: MONDO:0017287 {source="Orphanet:449427"} ! IgG4-related disease
property_value: exactMatch http://identifiers.org/snomedct/762282007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4545992
property_value: exactMatch Orphanet:449427

[Term]
id: MONDO:0018674
name: IgG4-related submandibular gland disease
def: "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones." [NCIT:C82887]
comment: Editor note: check this. Unification based on Kuttner tumor synonym
subset: ordo_disease {source="Orphanet:449432"}
synonym: "chronic sclerosing sialadenitis" EXACT [NCIT:C82887]
synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432]
synonym: "Kuttner tumor" EXACT [NCIT:C82887]
synonym: "Kuttner's tumor" EXACT [NCIT:C82887]
synonym: "Küttner tumor" EXACT [Orphanet:449432]
xref: ICD10:K11.2 {source="ORDO:449432/ntbt", source="Orphanet:449432"}
xref: NCIT:C82887 {source="MONDO:equivalentTo"}
xref: Orphanet:449432 {source="MONDO:equivalentTo"}
xref: SCTID:448131008 {source="MONDO:equivalentTo"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
is_a: MONDO:0017287 {source="Orphanet:449432"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/448131008
property_value: exactMatch NCIT:C82887
property_value: exactMatch Orphanet:449432

[Term]
id: MONDO:0018675
name: IgG4-related ophthalmic disease
def: "A IgG4-related disease that involves the eye." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:449563"}
synonym: "eye IgG4-related disease" EXACT [MONDO:patterns/location]
synonym: "IgG4-related disease of eye" EXACT []
xref: ICD10:H05.1 {source="ORDO:449563/ntbt", source="Orphanet:449563"}
xref: Orphanet:449563 {source="MONDO:equivalentTo"}
xref: UMLS:CN237741 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015937 {source="Orphanet:449563"} ! rare inflammatory eye disease
is_a: MONDO:0017287 {source="Orphanet:449563"} ! IgG4-related disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237741
property_value: exactMatch Orphanet:449563

[Term]
id: MONDO:0018676
name: eosinophilic angiocentric fibrosis
subset: gard_rare
subset: ordo_disease {source="Orphanet:449566"}
synonym: "EAF" RELATED [GARD:0002032]
synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032]
synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:449566]
synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032]
xref: GARD:0002032 {source="MONDO:equivalentTo"}
xref: ICD10:J39.8 {source="ORDO:449566/ntbt", source="Orphanet:449566"}
xref: Orphanet:449566 {source="MONDO:equivalentTo"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
is_a: MONDO:0017287 {source="Orphanet:449566"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch Orphanet:449566
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2032/eaf xsd:anyURI {source="GARD:0002032"}

[Term]
id: MONDO:0018677
name: visceral heterotaxy
def: "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." [NCIT:C117273]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:450"}
synonym: "heterotaxia" RELATED [DOID:0050545]
synonym: "heterotaxia syndrome" EXACT [NCIT:C117273]
synonym: "heterotaxy syndrome" EXACT [Orphanet:450]
synonym: "heterotaxy, visceral" EXACT [OMIMPS:306955]
synonym: "lateralization defect" EXACT [Orphanet:450]
synonym: "situs ambiguus" RELATED [DOID:0050545]
synonym: "visceral heterotaxy" EXACT [Orphanet:450]
xref: DOID:0050545 {source="MONDO:equivalentTo"}
xref: EFO:0009081 {source="MONDO:equivalentTo"}
xref: ICD10:Q89.3 {source="ORDO:450/nd", source="MONDO:superClassOf", source="Orphanet:450"}
xref: MedDRA:10067265 {source="ORDO:450/e", source="Orphanet:450"}
xref: NCIT:C117273 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.76/1.59"}
xref: OMIMPS:306955 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="MONDO:equivalentTo", source="DOID:0050545"}
xref: UMLS:C3178805 {source="MONDO:equivalentTo", source="ORDO:450/e", source="Orphanet:450", source="NCIT:C117273"}
is_a: MONDO:0000839 {source="DOID:0050545", source="indirect"} ! congenital abnormality
is_a: MONDO:0002254 {source="MONDOLEX:0018677", source="NCIT:C117273"} ! syndromic disease
is_a: MONDO:0020284 {source="Orphanet:450"} ! heart position anomaly
property_value: exactMatch DOID:0050545
property_value: exactMatch http://identifiers.org/meddra/10067265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3178805
property_value: exactMatch NCIT:C117273
property_value: exactMatch Orphanet:450

[Term]
id: MONDO:0018678
name: polyclonal hyperviscosity syndrome
subset: ordo_clinical_syndrome {source="Orphanet:450322"}
xref: ICD10:D89.0 {source="MONDO:relatedTo", source="ORDO:450322/ntbt", source="Orphanet:450322"}
xref: Orphanet:450322 {source="MONDO:equivalentTo"}
xref: UMLS:CN237743 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="Orphanet:450322"} ! hematologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237743
property_value: exactMatch Orphanet:450322

[Term]
id: MONDO:0018679
name: primary cutaneous plasmacytosis
subset: ordo_disease {source="Orphanet:451602"}
xref: ICD10:L98.6 {source="ORDO:451602/ntbt", source="Orphanet:451602"}
xref: Orphanet:451602 {source="MONDO:equivalentTo"}
is_a: MONDO:0017287 {source="Orphanet:451602"} ! IgG4-related disease
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019546 {source="Orphanet:451602"} ! other acquired skin disease
property_value: exactMatch Orphanet:451602

[Term]
id: MONDO:0018680
name: cutaneous pseudolymphoma
def: "A pseudolymphoma of the skin." [NCIT:C62776]
subset: ordo_disease {source="Orphanet:451607"}
synonym: "lymphadenosis Benigna cutis" EXACT [NCIT:C62776]
synonym: "lymphocytoma cutis" EXACT [NCIT:C62776]
synonym: "pseudolymphoma of Spiegler" EXACT [NCIT:C62776]
xref: ICD10:L98.6 {source="ORDO:451607/ntbt", source="Orphanet:451607"}
xref: NCIT:C62776 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:451607 {source="MONDO:equivalentTo"}
xref: SCTID:128862000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0311220 {source="NCIT:C62776", source="MONDO:equivalentTo", source="Orphanet:451607"}
is_a: MONDO:0017287 {source="Orphanet:451607"} ! IgG4-related disease
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019546 {source="Orphanet:451607"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/snomedct/128862000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311220
property_value: exactMatch NCIT:C62776
property_value: exactMatch Orphanet:451607

[Term]
id: MONDO:0018681
name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:453499"}
xref: Orphanet:453499 {source="MONDO:equivalentTo"}
xref: UMLS:CN237747 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:453499", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:453499"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019711 {source="Orphanet:453499"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237747
property_value: exactMatch Orphanet:453499

[Term]
id: MONDO:0018682
name: congenital insensitivity to pain with severe intellectual disability
subset: ordo_disease {source="Orphanet:453510"}
synonym: "congenital absence of pain with severe intellectual disability" EXACT [Orphanet:453510]
synonym: "congenital analgesia with severe intellectual disability" EXACT [Orphanet:453510]
synonym: "congenital insensitivity to pain with preserved temperature sensation" EXACT [Orphanet:453510]
synonym: "congenital insensitivity to pain with severe non-progressive cognitive delay" EXACT [Orphanet:453510]
xref: Orphanet:453510 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:453510"} ! syndromic intellectual disability
is_a: MONDO:0015366 {source="Orphanet:453510"} ! autosomal recessive hereditary sensory and autonomic neuropathy
property_value: exactMatch Orphanet:453510

[Term]
id: MONDO:0018683
name: acquired ichthyosis
def: "A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso." [NCIT:C112831]
subset: gard_rare {source="GARD:0000476"}
subset: ordo_disease {source="Orphanet:454"}
synonym: "acquired ichthyosis" EXACT [NCIT:C112831]
synonym: "acquired ichthyosis (disease)" EXACT [MONDO:patterns/acquired]
synonym: "fish scale disease, acquired" RELATED [GARD:0000476]
synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831]
synonym: "ichthyosis, acquired" RELATED [GARD:0000476]
xref: GARD:0000476 {source="MONDO:equivalentTo"}
xref: ICD10:L85.0 {source="MONDO:equivalentTo", source="ORDO:454/e", source="Orphanet:454"}
xref: MESH:C538175 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C112831 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:454 {source="MONDO:equivalentTo"}
xref: SCTID:8691004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0024304 {source="MONDOLEX:0018683", source="NCIT:C112831"} ! ichthyosis vulgaris
intersection_of: MONDO:0019269 ! ichthyosis (disease)
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263386
property_value: exactMatch http://identifiers.org/mesh/C538175
property_value: exactMatch http://identifiers.org/snomedct/8691004
property_value: exactMatch NCIT:C112831
property_value: exactMatch Orphanet:454
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired xsd:anyURI {source="GARD:0000476"}

[Term]
id: MONDO:0018684
name: idiopathic neonatal atrial flutter
def: "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." [Orphanet:45452]
subset: ordo_disease {source="Orphanet:45452"}
synonym: "neonatal cardiac dysrhythmia" EXACT [ICD10:P29.1]
xref: ICD10:P29.1 {source="ORDO:45452/ntbt", source="MONDO:equivalentTo", source="Orphanet:45452"}
xref: Orphanet:45452 {source="MONDO:equivalentTo"}
xref: SCTID:715560009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN205105 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016348 {source="Orphanet:45452"} ! non-genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/snomedct/715560009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205105
property_value: exactMatch Orphanet:45452

[Term]
id: MONDO:0018685
name: incessant infant ventricular tachycardia
def: "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." [Orphanet:45453]
subset: ordo_disease {source="Orphanet:45453"}
xref: ICD10:I47.2 {source="ORDO:45453/ntbt", source="MONDO:relatedTo", source="Orphanet:45453"}
xref: Orphanet:45453 {source="MONDO:equivalentTo"}
xref: SCTID:233908008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0340487 {source="MONDO:equivalentTo", source="ORDO:45453/e", source="Orphanet:45453"}
is_a: MONDO:0016348 {source="Orphanet:45453"} ! non-genetic cardiac rhythm disease
property_value: exactMatch http://identifiers.org/snomedct/233908008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340487
property_value: exactMatch Orphanet:45453

[Term]
id: MONDO:0018686
name: acquired Creutzfeldt-Jakob disease
alt_id: MONDO:0025169
def: "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_disease {source="Orphanet:454700"}
synonym: "acquired CJD" EXACT [MESH:C538481]
synonym: "acquired Creutzfeldt Jacob disease" EXACT [MONDO:patterns/acquired]
synonym: "sporadic CJD" RELATED [MESH:C538481]
xref: ICD10:A81.0 {source="ORDO:454700/ntbt", source="Orphanet:454700"}
xref: MESH:C538481 {source="MONDO:equivalentTo"}
xref: Orphanet:454700 {source="MONDO:equivalentTo"}
xref: UMLS:CN237752 {source="MONDO:equivalentTo"}
is_a: MONDO:0005357 {source="MESH:C538481", source="MONDO:Redundant"} ! Creutzfeldt Jacob disease
intersection_of: MONDO:0005357 ! Creutzfeldt Jacob disease
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0025149 {source="MESH:C538481"} ! encephalopathy, bovine spongiform
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C538481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237752
property_value: exactMatch Orphanet:454700

[Term]
id: MONDO:0018687
name: progressive muscular atrophy
def: "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:454706"}
synonym: "PMA" EXACT [Orphanet:454706]
synonym: "progressive spinal muscular atrophy" EXACT [CSP2005:2057-3620, DOID:318]
synonym: "pure progressive muscular atrophy" RELATED [DOID:318, MTHICD9_2006:335.21]
xref: COHD:376679 {source="MONDO:equivalentTo"}
xref: DOID:318 {source="MONDO:equivalentTo"}
xref: EFO:0008864 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="MONDO:subClassOf", source="ORDO:454706/ntbt", source="Orphanet:454706"}
xref: ICD10:G12.21 {source="MONDO:subClassOf", source="DOID:318"}
xref: ICD9:335.21 {source="DOID:318", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C85027 {source="DOID:318", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:454706 {source="MONDO:equivalentTo"}
xref: SCTID:88923002 {source="DOID:318", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0917981 {source="DOID:318", source="MONDO:equivalentTo", source="Orphanet:454706", source="NCIT:C85027"}
is_a: MONDO:0004976 {source="NCIT:C85027"} ! amyotrophic lateral sclerosis
property_value: exactMatch DOID:318
property_value: exactMatch http://identifiers.org/snomedct/88923002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0917981
property_value: exactMatch NCIT:C85027
property_value: exactMatch Orphanet:454706

[Term]
id: MONDO:0018688
name: anti-p200 pemphigoid
subset: ordo_disease {source="Orphanet:454710"}
xref: EFO:0008597 {source="MONDO:equivalentTo"}
xref: ICD10:L12.8 {source="Orphanet:454710", source="ORDO:454710/ntbt"}
xref: Orphanet:454710 {source="MONDO:equivalentTo"}
xref: UMLS:CN237754 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019337 {source="EFO:0008597/inferred", source="Orphanet:454710"} ! autoimmune bullous skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237754
property_value: exactMatch Orphanet:454710

[Term]
id: MONDO:0018689
name: plasma cell leukemia
def: "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [NCIT:C3180]
subset: gard_rare {source="GARD:0009373"}
subset: ordo_disease {source="Orphanet:454714"}
synonym: "leukemia plasmacytic" EXACT [NCIT:C3180]
synonym: "leukemia, plasma cell" RELATED [GARD:0009373]
synonym: "PCL" EXACT [Orphanet:454714]
synonym: "plasma cell leukemia" EXACT [NCIT:C3180]
synonym: "plasmacytic leukemia" EXACT [NCIT:C3180]
xref: COHD:133154 {source="MONDO:equivalentTo"}
xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"}
xref: EFO:0006475 {source="MONDO:equivalentTo"}
xref: GARD:0009373 {source="MONDO:equivalentTo"}
xref: ICD10:C90.1 {source="DOID:9513", source="Orphanet:454714", source="ORDO:454714/e"}
xref: ICD10:C90.10 {source="DOID:9513"}
xref: ICD9:203.1 {source="DOID:9513", source="EFO:0006475"}
xref: ICD9:203.10 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9733/3 {source="NCIT:C3180"}
xref: MESH:D007952 {source="DOID:9513", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3180 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"}
xref: Orphanet:454714 {source="MONDO:equivalentTo"}
xref: SCTID:95210003 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0023484 {source="DOID:9513", source="MONDO:equivalentTo", source="Orphanet:454714", source="NCIT:C3180"}
is_a: MONDO:0004959 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714", source="linkedlifedata", source="linkedlifedata/inferred"} ! plasma cell neoplasm
is_a: MONDO:0004967 {source="DOID:9513", source="MONDO:Redundant", source="indirect"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0015759 ! B-cell non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/128922003
property_value: closeMatch http://identifiers.org/snomedct/154586003
property_value: closeMatch http://identifiers.org/snomedct/188722001
property_value: closeMatch http://identifiers.org/snomedct/190038002
property_value: closeMatch http://identifiers.org/snomedct/190039005
property_value: closeMatch http://identifiers.org/snomedct/269630009
property_value: closeMatch http://identifiers.org/snomedct/39193004
property_value: exactMatch DOID:9513
property_value: exactMatch http://identifiers.org/mesh/D007952
property_value: exactMatch http://identifiers.org/snomedct/95210003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023484
property_value: exactMatch NCIT:C3180
property_value: exactMatch Orphanet:454714
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia xsd:anyURI {source="GARD:0009373"}

[Term]
id: MONDO:0018690
name: Holmes-Adie syndrome
def: "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." [NCIT:C34357]
subset: ordo_disease {source="Orphanet:454718"}
synonym: "Adie pupil" RELATED [OMIM:103100]
synonym: "Adie syndrome" EXACT [MONDO:0007069, OMIM:103100, Orphanet:454718]
synonym: "Adie's pupil" RELATED [GARD:0005749]
synonym: "Adie's pupil or syndrome" EXACT [DOID:11549, MTHICD9_2006:379.46]
synonym: "Adie's pupil syndrome" EXACT [DOID:11549]
synonym: "Adie's syndrome" EXACT [DOID:11549]
synonym: "Holmes-Adie syndrome" EXACT [DOID:11549, NCIT:C34357, OMIM:103100]
synonym: "poorly Reacting pupils" RELATED [OMIM:103100]
synonym: "tonic pupil" EXACT [NCIT:C34357]
synonym: "tonic pupil-tendon areflexia syndrome" EXACT [Orphanet:454718]
synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" RELATED [GARD:0005749]
xref: DOID:11549 {source="EFO:0004126", source="MONDO:equivalentTo"}
xref: EFO:0004126 {source="MONDO:equivalentTo"}
xref: GARD:0005749 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:H57.0 {source="Orphanet:454718", source="ORDO:454718/ntbt"}
xref: MESH:D000270 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo"}
xref: NCIT:C34357 {source="DOID:11549", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.80/0.52"}
xref: OMIM:103100 {source="MONDO:subClassOf", source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo", source="Orphanet:454718", source="ORDO:454718/ntbt"}
xref: Orphanet:454718 {source="MONDO:equivalentTo"}
xref: SCTID:24225004 {source="DOID:11549", source="MONDO:equivalentTo"}
xref: UMLS:C0001519 {source="MEDGEN:kboom-pr98-c99", source="DOID:11549", source="NCBI:mim2gene_medline", source="OMIM:103100", source="MONDO:equivalentTo", source="NCIT:C34357", source="Orphanet:454718"}
is_a: MONDO:0002254 {source="DOID:11549", source="MONDOLEX:0018690", source="NCIT:C34357"} ! syndromic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: closeMatch http://identifiers.org/mesh/D015845
property_value: closeMatch http://identifiers.org/snomedct/123051004
property_value: exactMatch DOID:11549
property_value: exactMatch http://identifiers.org/mesh/D000270
property_value: exactMatch http://identifiers.org/omim/103100
property_value: exactMatch http://identifiers.org/snomedct/24225004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001519
property_value: exactMatch NCIT:C34357
property_value: exactMatch Orphanet:454718

[Term]
id: MONDO:0018691
name: obsolete endometrioid carcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0006335

[Term]
id: MONDO:0018692
name: variably protease-sensitive prionopathy
subset: ordo_disease {source="Orphanet:454742"}
xref: ICD10:A81.8 {source="Orphanet:454742", source="ORDO:454742/ntbt"}
xref: Orphanet:454742 {source="MONDO:equivalentTo"}
xref: SCTID:721165001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.56"}
xref: UMLS:C4303527 {source="MONDO:equivalentTo"}
is_a: MONDO:0017641 {source="Orphanet:454742"} ! miscellaneous movement disorder due to neurodegenerative disease
is_a: MONDO:0018926 {source="Orphanet:454742"} ! human prion disease
property_value: exactMatch http://identifiers.org/snomedct/721165001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303527
property_value: exactMatch Orphanet:454742

[Term]
id: MONDO:0018693
name: obsolete kuru
is_obsolete: true
replaced_by: MONDO:0006825

[Term]
id: MONDO:0018694
name: isolated tracheo-esophageal fistula
def: "A congenital or acquired abnormal communication between the trachea and the esophagus." [NCIT:C35080]
subset: ordo_morphological_anomaly {source="Orphanet:454750"}
synonym: "H-type tracheoesophageal fistula" EXACT [Orphanet:454750]
synonym: "isolated tracheoesophageal fistula" RELATED [Orphanet:454750]
synonym: "tracheo-esophageal fistula" EXACT [NCIT:C35080]
synonym: "tracheoesophageal fistula" EXACT [NCIT:C35080]
synonym: "tracheoesophageal fistula" RELATED [NCIT:C35080]
xref: ICD10:Q39.2 {source="Orphanet:454750", source="ORDO:454750/e"}
xref: NCIT:C35080 {source="MONDO:equivalentTo"}
xref: Orphanet:454750 {source="MONDO:equivalentTo"}
is_a: MONDO:0015207 {source="Orphanet:454750"} ! non-syndromic esophageal malformation
is_a: MONDO:0015221 {source="Orphanet:454750"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:454750"} ! respiratory malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040588
property_value: exactMatch NCIT:C35080
property_value: exactMatch Orphanet:454750

[Term]
id: MONDO:0018695
name: avian influenza
def: "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." [MESH:D005585]
subset: ordo_disease {source="Orphanet:454836"}
synonym: "avian flu" EXACT [DOID:4492]
synonym: "bird flu" EXACT [DOID:4492]
xref: COHD:314979 {source="MONDO:equivalentTo"}
xref: DOID:4492 {source="EFO:0005222", source="MONDO:equivalentTo"}
xref: EFO:0005222 {source="MONDO:equivalentTo"}
xref: ICD10:J09 {source="ORDO:454836/ntbt", source="Orphanet:454836"}
xref: ICD10:J09.X {source="DOID:4492"}
xref: MESH:D005585 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:4492"}
xref: Orphanet:454836 {source="MONDO:equivalentTo"}
xref: SCTID:55604004 {source="EFO:0005222", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4492"}
xref: UMLS:C0016627 {source="MONDO:equivalentTo", source="DOID:4492"}
xref: UMLS:CN237762 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005812 {source="DOID:4492", source="EFO:0005222"} ! influenza
relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:454836"} ! respiratory system disease
property_value: exactMatch DOID:4492
property_value: exactMatch http://identifiers.org/mesh/D005585
property_value: exactMatch http://identifiers.org/snomedct/55604004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016627
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237762
property_value: exactMatch Orphanet:454836

[Term]
id: MONDO:0018696
name: corticobasal syndrome
def: "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." [Orphanet:454887]
subset: ordo_disease {source="Orphanet:454887"}
xref: ICD10:G31.0 {source="ORDO:454887/attributed", source="ORDO:454887/ntbt", source="Orphanet:454887"}
xref: Orphanet:454887 {source="MONDO:equivalentTo"}
xref: UMLS:CN237765 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015547 {source="MONDO:Redundant", source="indirect"} ! genetic dementia
is_a: MONDO:0017643 {source="Orphanet:454887"} ! frontotemporal neurodegeneration with movement disorder
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020137 {source="Orphanet:454887"} ! frontotemporal degeneration with dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="indirect"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237765
property_value: exactMatch Orphanet:454887

[Term]
id: MONDO:0018697
name: 1p35.2 microdeletion syndrome
subset: ordo_malformation_syndrome {source="Orphanet:456298"}
synonym: "Del(1)(p35.2)" EXACT [Orphanet:456298]
synonym: "deletion 1p35.2" EXACT [Orphanet:456298]
synonym: "monosomy 1p35.2" EXACT [Orphanet:456298]
xref: ICD10:Q93.5 {source="ORDO:456298/attributed", source="ORDO:456298/ntbt", source="Orphanet:456298"}
xref: Orphanet:456298 {source="MONDO:equivalentTo"}
xref: UMLS:CN237766 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:456298"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:456298"} ! malformation syndrome with short stature
is_a: MONDO:0016883 {source="MONDOLEX:0018697", source="Orphanet:456298"} ! partial deletion of the short arm of chromosome 1
is_a: MONDO:0019589 {source="Orphanet:456298"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237766
property_value: exactMatch Orphanet:456298

[Term]
id: MONDO:0018698
name: hereditary neuroendocrine tumor of small intestine
def: "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:456333"}
synonym: "hereditary neuroendocrine tumor of small bowel" EXACT [Orphanet:456333]
synonym: "hereditary neuroendocrine tumor of the small intestine" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:456333 {source="MONDO:equivalentTo"}
xref: UMLS:CN237770 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN847586 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017128 ! inherited digestive tract tumor
is_a: MONDO:0018510 ! small intestine neuroendocrine neoplasm
is_a: MONDO:0018538 {source="Orphanet:456333"} ! inherited digestive cancer-predisposing syndrome
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
intersection_of: MONDO:0018510 ! small intestine neuroendocrine neoplasm
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN847586
property_value: exactMatch Orphanet:456333

[Term]
id: MONDO:0018699
name: pseudohypoparathyroidism with Albright hereditary osteodystrophy
subset: ordo_group_of_disorders {source="Orphanet:457059"}
xref: Orphanet:457059 {source="MONDO:equivalentTo"}
is_a: MONDO:0016565 {source="Orphanet:457059"} ! syndromic genetic obesity
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018798 {source="Orphanet:457059"} ! other genetic dermis disorder
is_a: MONDO:0019695 {source="Orphanet:457059"} ! acromelic dysplasia
is_a: MONDO:0019992 {source="Orphanet:457059"} ! pseudohypoparathyroidism
is_a: MONDO:0020232 {source="Orphanet:457059"} ! musculoskeletal disease with cataract
is_a: MONDO:0021154 {source="Orphanet:457059"} ! dermis disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch Orphanet:457059

[Term]
id: MONDO:0018700
name: pseudohypoparathyroidism without Albright hereditary osteodystrophy
subset: ordo_group_of_disorders {source="Orphanet:457062"}
xref: Orphanet:457062 {source="MONDO:equivalentTo"}
is_a: MONDO:0019992 {source="Orphanet:457062"} ! pseudohypoparathyroidism
property_value: exactMatch Orphanet:457062

[Term]
id: MONDO:0018701
name: congenital nemaline myopathy
subset: ordo_group_of_disorders {source="Orphanet:457074"}
xref: Orphanet:457074 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:457074"} ! congenital myopathy
property_value: exactMatch Orphanet:457074

[Term]
id: MONDO:0018702
name: TAFRO syndrome
def: "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" [PMID:23801135]
subset: ordo_disease {source="Orphanet:457077"}
synonym: "Castleman-Kojima disease" EXACT [PMID:23801135]
synonym: "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome" EXACT [Orphanet:457077]
xref: ICD10:M35.8 {source="ORDO:457077/ntbt", source="Orphanet:457077"}
xref: Orphanet:457077 {source="MONDO:equivalentTo"}
xref: UMLS:CN237773 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015938 {source="Orphanet:457077"} ! systemic disease
is_a: MONDO:0016631 {source="Orphanet:457077"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237773
property_value: exactMatch Orphanet:457077

[Term]
id: MONDO:0018703
name: isolated splenogonadal fusion
subset: ordo_morphological_anomaly {source="Orphanet:457083"}
synonym: "SGF" EXACT [Orphanet:457083]
xref: ICD10:Q89.0 {source="ORDO:457083/ntbt", source="Orphanet:457083"}
xref: Orphanet:457083 {source="MONDO:equivalentTo"}
xref: UMLS:CN242095 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015213 {source="Orphanet:457083"} ! non-syndromic visceral malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242095
property_value: exactMatch Orphanet:457083

[Term]
id: MONDO:0018704
name: obsolete actinomycosis
is_obsolete: true
replaced_by: MONDO:0005631

[Term]
id: MONDO:0018705
name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
subset: ordo_disease {source="Orphanet:457205"}
synonym: "ANOAC" EXACT [Orphanet:457205]
synonym: "axonal neuropathy-optic atrophy-cognitive deficit syndrome" EXACT [Orphanet:457205]
xref: Orphanet:457205 {source="MONDO:equivalentTo"}
xref: UMLS:CN242083 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:457205"} ! syndromic intellectual disability
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0018609 {source="Orphanet:457205"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019601 {source="Orphanet:457205"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457205", source="indirect"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242083
property_value: exactMatch Orphanet:457205

[Term]
id: MONDO:0018706
name: syndromic sensorineural deafness due to combined oxidative phosphorylation defect
subset: ordo_disease {source="Orphanet:457223"}
synonym: "syndromic sensorineural deafness due to COXPD" EXACT [Orphanet:457223]
synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [Orphanet:457223]
xref: ICD10:G31.8 {source="ORDO:457223/attributed", source="ORDO:457223/ntbt", source="Orphanet:457223"}
xref: Orphanet:457223 {source="MONDO:equivalentTo"}
xref: UMLS:CN242144 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018157 {source="Orphanet:457223"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0019589 {source="Orphanet:457223"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242144
property_value: exactMatch Orphanet:457223

[Term]
id: MONDO:0018707
name: obsolete clear cell sarcoma of kidney
is_obsolete: true
replaced_by: MONDO:0005006

[Term]
id: MONDO:0018708
name: squamous cell carcinoma of the oral tongue
subset: ordo_disease {source="Orphanet:457252"}
synonym: "oral tongue squamous cell carcinoma" EXACT [Orphanet:457252]
synonym: "OTSCC" EXACT [Orphanet:457252]
xref: ICD10:C02.0 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: ICD10:C02.1 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: ICD10:C02.2 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: ICD10:C02.3 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: ICD10:C02.4 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: ICD10:C02.8 {source="ORDO:457252/btnt", source="Orphanet:457252"}
xref: Orphanet:457252 {source="MONDO:equivalentTo"}
xref: UMLS:CN242132 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000500 ! tongue squamous cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242132
property_value: exactMatch Orphanet:457252

[Term]
id: MONDO:0018709
name: X-linked intellectual disability-hypotonia-movement disorder syndrome
subset: ordo_disease {source="Orphanet:457260"}
xref: Orphanet:457260 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:457260"} ! X-linked syndromic intellectual disability
property_value: exactMatch Orphanet:457260

[Term]
id: MONDO:0018710
name: megalencephaly-severe kyphoscoliosis-overgrowth syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457359"}
xref: Orphanet:457359 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457359", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0014863 ! macrocephaly, dysmorphic facies, and psychomotor retardation
is_a: MONDO:0015159 {source="Orphanet:457359"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019716 {source="Orphanet:457359"} ! overgrowth syndrome
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:457359

[Term]
id: MONDO:0018711
name: intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:457365"}
xref: Orphanet:457365 {source="MONDO:equivalentTo"}
xref: UMLS:CN242088 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457365", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:457365"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:457365"} ! malformation syndrome with short stature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242088
property_value: exactMatch Orphanet:457365

[Term]
id: MONDO:0018712
name: composite hemangioendothelioma
def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." [NCIT:P378]
subset: ordo_disease {source="Orphanet:458758"}
synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475]
xref: ICD10:D18.0 {source="Orphanet:458758", source="ORDO:458758/ntbt"}
xref: NCIT:C45475 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:458758 {source="MONDO:equivalentTo"}
xref: SCTID:403984006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1304513 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45475"}
xref: UMLS:CN242120 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021121 {source="NCIT:C45475", source="linkedlifedata"} ! hemangioendothelioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/403984006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242120
property_value: exactMatch NCIT:C45475
property_value: exactMatch Orphanet:458758

[Term]
id: MONDO:0018713
name: retiform hemangioendothelioma
def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." [NCIT:P378]
subset: ordo_disease {source="Orphanet:458763"}
synonym: "hobnail hemangioendothelioma" EXACT [NCIT:C27511]
synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511]
xref: ICD10:D18.0 {source="ORDO:458763/ntbt", source="Orphanet:458763"}
xref: NCIT:C27511 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:458763 {source="MONDO:equivalentTo"}
xref: SCTID:403982005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1304512 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27511"}
xref: UMLS:CN242097 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021121 {source="NCIT:C27511", source="linkedlifedata"} ! hemangioendothelioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/403982005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242097
property_value: exactMatch NCIT:C27511
property_value: exactMatch Orphanet:458763

[Term]
id: MONDO:0018714
name: primary intralymphatic angioendothelioma
def: "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:458768"}
synonym: "Dabska tumor" EXACT [NCIT:C7526, Orphanet:458768]
synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526]
synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526]
synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526]
synonym: "pila" EXACT [NCIT:C7526]
xref: ICD10:D18.0 {source="Orphanet:458768", source="ORDO:458768/ntbt"}
xref: ICDO:9135/1 {source="NCIT:C7526"}
xref: NCIT:C7526 {source="MONDO:equivalentTo"}
xref: Orphanet:458768 {source="MONDO:equivalentTo"}
xref: UMLS:CN242194 {source="MONDO:equivalentTo"}
is_a: MONDO:0021121 {source="NCIT:C7526"} ! hemangioendothelioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346087
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242194
property_value: exactMatch NCIT:C7526
property_value: exactMatch Orphanet:458768

[Term]
id: MONDO:0018715
name: congenital hemangioma
def: "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, NCIT:C3841]
comment: Editor note: this is distinct from inflantile hemangioma
subset: ordo_group_of_disorders {source="Orphanet:458775"}
synonym: "congenital angioma" RELATED [NCIT:C3841]
synonym: "congenital hemangioma" EXACT [NCIT:C3841]
xref: NCIT:C3841 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:458775 {source="MONDO:equivalentTo"}
xref: SCTID:32361000119104 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0235753 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3841"}
is_a: MONDO:0006500 {source="MONDO:cjm", source="NCIT:C3841", source="linkedlifedata"} ! hemangioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
relationship: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch http://identifiers.org/snomedct/32361000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235753
property_value: exactMatch NCIT:C3841
property_value: exactMatch Orphanet:458775

[Term]
id: MONDO:0018716
name: partially involuting congenital hemangioma
def: "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" [https://doi.org/10.1016/j.jaad.2013.09.018]
subset: ordo_disease {source="Orphanet:458785"}
synonym: "PICH" EXACT [https://doi.org/10.1016/j.jaad.2013.09.018]
xref: ICD10:D18.0 {source="ORDO:458785/ntbt", source="Orphanet:458785"}
xref: Orphanet:458785 {source="MONDO:equivalentTo"}
is_a: MONDO:0018715 {source="MONDOLEX:0018716", source="Orphanet:458785"} ! congenital hemangioma
property_value: exactMatch Orphanet:458785

[Term]
id: MONDO:0018717
name: mixed cystic lymphatic malformation
subset: ordo_malformation_syndrome {source="Orphanet:458792"}
synonym: "mixed cystic lymphangioma" EXACT [Orphanet:458792]
xref: ICD10:D18.1 {source="ORDO:458792/ntbt", source="Orphanet:458792"}
xref: Orphanet:458792 {source="MONDO:equivalentTo"}
is_a: MONDO:0018720 {source="Orphanet:458792"} ! common cystic lymphatic malformation
property_value: exactMatch Orphanet:458792

[Term]
id: MONDO:0018718
name: vascular tumor with associated anomalies
comment: Editor note: what is associated anomalies?
subset: ordo_group_of_disorders {source="Orphanet:458827"}
xref: Orphanet:458827 {source="MONDO:equivalentTo"}
xref: UMLS:CN242155 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024296 {source="Orphanet:458827"} ! vascular neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242155
property_value: exactMatch Orphanet:458827

[Term]
id: MONDO:0018719
name: rare capillary malformation with associated anomalies
comment: Editor note: what is associated anomalies?
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:458830"}
xref: Orphanet:458830 {source="MONDO:equivalentTo"}
xref: UMLS:CN242066 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016231 {source="Orphanet:458830", source="indirect"} ! capillary malformation
relationship: has_modifier MONDO:0021136 {source="MONDO:0018728"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242066
property_value: exactMatch Orphanet:458830
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018720
name: common cystic lymphatic malformation
subset: ordo_group_of_disorders {source="Orphanet:458833"}
xref: Orphanet:458833 {source="MONDO:equivalentTo"}
is_a: MONDO:0002013 {source="Orphanet:458833"} ! lymphangioma
property_value: exactMatch Orphanet:458833

[Term]
id: MONDO:0018721
name: rare combined vascular malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:458837"}
xref: Orphanet:458837 {source="MONDO:equivalentTo"}
xref: UMLS:CN242069 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019063 {source="Orphanet:458837"} ! vascular anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242069
property_value: exactMatch Orphanet:458837
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018722
name: primary lymphedema with associated anomalies
subset: ordo_group_of_disorders {source="Orphanet:458841"}
xref: Orphanet:458841 {source="MONDO:equivalentTo"}
is_a: MONDO:0019175 {source="MONDOLEX:0018722", source="Orphanet:458841"} ! primary lymphedema
property_value: exactMatch Orphanet:458841

[Term]
id: MONDO:0018723
name: rare vascular malformation of major vessels
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:458844"}
xref: Orphanet:458844 {source="MONDO:equivalentTo"}
xref: UMLS:CN242093 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019063 {source="Orphanet:458844"} ! vascular anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242093
property_value: exactMatch Orphanet:458844
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018724
name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
subset: ordo_malformation_syndrome {source="Orphanet:459070"}
xref: Orphanet:459070 {source="MONDO:equivalentTo"}
xref: UMLS:CN242161 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459070", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:459070"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016761 {source="Orphanet:459070"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0017118 {source="Orphanet:459070"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242161
property_value: exactMatch Orphanet:459070

[Term]
id: MONDO:0018725
name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome
subset: ordo_malformation_syndrome {source="Orphanet:459074"}
synonym: "7q36.3 microduplication syndrome" EXACT [Orphanet:459074]
synonym: "dup(7)(q36.3)" EXACT [Orphanet:459074]
xref: ICD10:Q04.0 {source="ORDO:459074/attributed", source="ORDO:459074/ntbt", source="Orphanet:459074"}
xref: Orphanet:459074 {source="MONDO:equivalentTo"}
xref: UMLS:CN242137 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459074", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:459074"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 {source="Orphanet:459074"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242137
property_value: exactMatch Orphanet:459074

[Term]
id: MONDO:0018726
name: obsolete immunodeficiency due to a complement cascade component deficiency
is_obsolete: true
replaced_by: MONDO:0003832

[Term]
id: MONDO:0018727
name: immunodeficiency due to a complement regulatory deficiency
subset: ordo_group_of_disorders {source="Orphanet:459348"}
xref: Orphanet:459348 {source="MONDO:equivalentTo"}
is_a: MONDO:0015136 {source="Orphanet:459348"} ! immunodeficiency due to a genetic complement cascade protein anomaly
property_value: exactMatch Orphanet:459348

[Term]
id: MONDO:0018728
name: obsolete rare genetic capillary malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:459526"}
xref: Orphanet:459526 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN242077 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242077
property_value: exactMatch Orphanet:459526
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016231

[Term]
id: MONDO:0018729
name: genetic vascular tumor
def: "An instance of rare vascular tumor that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:459543"}
synonym: "genetic rare vascular tumor" EXACT [MONDO:patterns/genetic]
synonym: "rare genetic vascular tumor" EXACT [Orphanet:459543]
xref: Orphanet:459543 {source="MONDO:equivalentTo"}
xref: UMLS:CN242080 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:459543"} ! genetic vascular anomaly
is_a: MONDO:0024296 ! vascular neoplasm
intersection_of: MONDO:0024296 ! vascular neoplasm
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242080
property_value: exactMatch Orphanet:459543
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018730
name: rare genetic venous malformation
def: "An instance of rare venous malformation that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:459548"}
synonym: "genetic rare venous malformation" EXACT [MONDO:patterns/genetic]
xref: Orphanet:459548 {source="MONDO:equivalentTo"}
xref: UMLS:CN241790 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:459548"} ! genetic vascular anomaly
is_a: MONDO:0016232 ! rare venous malformation
intersection_of: MONDO:0016232 ! rare venous malformation
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN241790
property_value: exactMatch Orphanet:459548
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018731
name: lethal multiple congenital anomalies/dysmorphic syndrome
subset: ordo_group_of_disorders {source="Orphanet:459787"}
xref: Orphanet:459787 {source="MONDO:equivalentTo"}
is_a: MONDO:0019042 {source="Orphanet:459787"} ! multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:459787

[Term]
id: MONDO:0018733
name: intellectual disability syndrome due to a DYRK1A point mutation
subset: ordo_clinical_subtype {source="Orphanet:464311"}
synonym: "DYRK1A-related intellectual disability syndrome due to a point mutation" EXACT [Orphanet:464311]
xref: Orphanet:464311 {source="MONDO:equivalentTo"}
xref: UMLS:CN242084 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0013578 {source="Orphanet:464311"} ! DYRK1A-related intellectual disability syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242084
property_value: exactMatch Orphanet:464311

[Term]
id: MONDO:0018734
name: verrucous hemangioma
def: "A skin hemangioma characterized by the presence of epidermal hyperplasia." [NCIT:C4299]
subset: ordo_disease {source="Orphanet:464318"}
synonym: "verrucous keratotic hemangioma" EXACT [MONDO:0003106, NCIT:C4299]
synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [DOID:470]
xref: DOID:470 {source="MONDO:equivalentTo"}
xref: ICD10:D18.0 {source="ORDO:464318/ntbt", source="Orphanet:464318"}
xref: ICDO:9142/0 {source="NCIT:C4299"}
xref: NCIT:C4299 {source="MONDO:equivalentTo", source="DOID:470", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:464318 {source="MONDO:equivalentTo"}
xref: UMLS:C0334540 {source="MONDO:equivalentTo", source="NCIT:C4299", source="DOID:470"}
xref: UMLS:CN242156 {source="MONDO:equivalentTo"}
is_a: MONDO:0003110 {source="DOID:470", source="MONDO:Entailed", source="NCIT:C4299"} ! skin hemangioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/20985003
property_value: exactMatch DOID:470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242156
property_value: exactMatch NCIT:C4299
property_value: exactMatch Orphanet:464318

[Term]
id: MONDO:0018735
name: multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
def: "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." [NCIT:C60672]
subset: ordo_disease {source="Orphanet:464321"}
synonym: "cutaneovisceral angiomatosis-thrombocytopenia syndrome" EXACT [Orphanet:464321]
synonym: "DKFZp434L132" EXACT [NCIT:C60672]
synonym: "MALT1 wt allele" EXACT [NCIT:C60672]
synonym: "MLT" EXACT [Orphanet:464321]
synonym: "MLT1" EXACT [NCIT:C60672]
synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [NCIT:C60672]
synonym: "multifocal lymphangioendotheliomatosis with thrombocytopenia" EXACT [Orphanet:464321]
xref: GARD:0010467 {source="MONDO:equivalentTo"}
xref: ICD10:D18.1 {source="Orphanet:464321", source="ORDO:464321/ntbt"}
xref: NCIT:C60672 {source="MONDO:equivalentTo"}
xref: Orphanet:464321 {source="MONDO:equivalentTo"}
xref: UMLS:CN242151 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002013 {source="Orphanet:464321"} ! lymphangioma
is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0016631 {source="Orphanet:464321"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242151
property_value: exactMatch NCIT:C60672
property_value: exactMatch Orphanet:464321

[Term]
id: MONDO:0018736
name: kaposiform lymphangiomatosis
def: "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." [PMID:24252784]
comment: Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784]
subset: ordo_disease {source="Orphanet:464329"}
synonym: "KLA" BROAD [PMID:24252784]
xref: ICD10:D18.1 {source="ORDO:464329/ntbt", source="Orphanet:464329"}
xref: Orphanet:464329 {source="MONDO:equivalentTo"}
is_a: MONDO:0024296 {source="Orphanet:464329"} ! vascular neoplasm
relationship: disease_shares_features_of MONDO:0016236 ! kaposiform hemangioendothelioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: exactMatch Orphanet:464329

[Term]
id: MONDO:0018737
name: catastrophic antiphospholipid syndrome
subset: ordo_disease {source="Orphanet:464343"}
synonym: "caps" EXACT [Orphanet:464343]
synonym: "catastrophic APS" EXACT [Orphanet:464343]
xref: GARD:0009820 {source="MONDO:equivalentTo"}
xref: ICD10:D68.6 {source="Orphanet:464343", source="ORDO:464343/ntbt"}
xref: ICD9:289.81 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:464343 {source="MONDO:equivalentTo"}
xref: SCTID:609329007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3662487 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN242096 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0007140 {source="MONDO:cjm", source="MONDOLEX:0018737", source="linkedlifedata"} ! antiphospholipid syndrome
is_a: MONDO:0016634 {source="Orphanet:464343"} ! thrombotic disorder due to an acquired coagulation factors defect
property_value: exactMatch http://identifiers.org/snomedct/609329007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242096
property_value: exactMatch Orphanet:464343

[Term]
id: MONDO:0018738
name: benign metanephric tumour
def: "A benign neoplasm that involves the metanephros." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:464359"}
xref: ICD10:D30.0 {source="ORDO:464359/ntbt", source="Orphanet:464359"}
xref: Orphanet:464359 {source="MONDO:equivalentTo"}
xref: UMLS:CN242075 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002513 ! kidney benign neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242075
property_value: exactMatch Orphanet:464359

[Term]
id: MONDO:0018739
name: neonatal alloimmune neutropenia
subset: ordo_disease {source="Orphanet:464370"}
xref: ICD10:P61.5 {source="ORDO:464370/ntbt", source="MONDO:relatedTo", source="Orphanet:464370"}
xref: Orphanet:464370 {source="MONDO:equivalentTo"}
xref: SCTID:14333004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
xref: UMLS:C0272176 {source="MONDO:equivalentTo"}
is_a: MONDO:0015822 {source="Orphanet:464370"} ! acquired neutropenia
property_value: exactMatch http://identifiers.org/snomedct/14333004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272176
property_value: exactMatch Orphanet:464370

[Term]
id: MONDO:0018740
name: drug-induced methemoglobinemia
def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." [NCIT:C101045]
subset: ordo_disease {source="Orphanet:464453"}
synonym: "acquired methemoglobinemia" EXACT [MONDO:patterns/acquired, Orphanet:464453]
synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045]
xref: ICD10:D74.8 {source="Orphanet:464453", source="ORDO:464453/ntbt"}
xref: NCIT:C101045 {source="MONDO:kboom-pr-0.91/0.77/0.63", source="MONDO:equivalentTo"}
xref: Orphanet:464453 {source="MONDO:equivalentTo"}
xref: SCTID:191390009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0271905 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001117 {source="MONDO:Redundant", source="NCIT:C101045/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! methemoglobinemia
is_a: MONDO:0044349 ! acquired hemoglobinopathy
intersection_of: MONDO:0001117 ! methemoglobinemia
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0472781
property_value: exactMatch http://identifiers.org/snomedct/191390009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271905
property_value: exactMatch NCIT:C101045
property_value: exactMatch Orphanet:464453

[Term]
id: MONDO:0018741
name: paracetamol poisoning
subset: ordo_clinical_situation {source="Orphanet:464458"}
synonym: "acetaminophen poisoning" EXACT [Orphanet:464458]
xref: ICD9:965.4 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:464458 {source="MONDO:equivalentTo"}
xref: SCTID:70273001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
is_a: MONDO:0017633 {source="Orphanet:464458"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/snomedct/70273001
property_value: exactMatch Orphanet:464458

[Term]
id: MONDO:0018742
name: familial gastric type 1 neuroendocrine tumor
comment: Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859
subset: ordo_disease {source="Orphanet:464756"}
synonym: "familial type 1 gNET" EXACT [MONDO:cjm]
synonym: "hereditary type 1 gNET" EXACT [MONDO:cjm]
xref: Orphanet:464756 {source="MONDO:equivalentTo"}
xref: UMLS:CN242170 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015062 {source="MONDO:cjm"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242170
property_value: exactMatch Orphanet:464756

[Term]
id: MONDO:0018743
name: immune-mediated acquired neuromuscular junction disease
subset: ordo_group_of_disorders {source="Orphanet:464764"}
xref: Orphanet:464764 {source="MONDO:equivalentTo"}
xref: UMLS:CN242076 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020125 {source="MONDOLEX:0018743", source="Orphanet:464764"} ! acquired neuromuscular junction disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242076
property_value: exactMatch Orphanet:464764

[Term]
id: MONDO:0018744
name: oligodendroglial tumor
def: "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." [Orphanet:46484]
subset: ordo_group_of_disorders {source="Orphanet:46484"}
synonym: "oligodendroglial neoplasm" EXACT [NCIT:C6960]
synonym: "oligodendroglial tumor" EXACT [NCIT:C6960]
xref: NCIT:C6960 {source="MONDO:equivalentTo"}
xref: Orphanet:46484 {source="MONDO:equivalentTo"}
xref: UMLS:C1335110 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6960", source="MONDO:equivalentTo"}
xref: UMLS:CN205116 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015917 {source="Orphanet:46484"} ! malignant glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335110
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205116
property_value: exactMatch NCIT:C6960
property_value: exactMatch Orphanet:46484

[Term]
id: MONDO:0018745
name: superficial pemphigus
def: "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485]
subset: ordo_group_of_disorders {source="Orphanet:46485"}
xref: ICD10:L10.2 {source="ORDO:46485/btnt", source="Orphanet:46485"}
xref: ICD10:L10.3 {source="ORDO:46485/btnt", source="Orphanet:46485"}
xref: ICD10:L10.4 {source="ORDO:46485/btnt", source="MONDO:superClassOf", source="Orphanet:46485"}
xref: Orphanet:46485 {source="MONDO:equivalentTo"}
xref: UMLS:CN227541 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019337 {source="Orphanet:46485"} ! autoimmune bullous skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227541
property_value: exactMatch Orphanet:46485

[Term]
id: MONDO:0018746
name: mucous membrane pemphigoid
def: "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." [Orphanet:46486]
subset: ordo_disease {source="Orphanet:46486"}
synonym: "benign mucosal pemphigoid" RELATED [GARD:0005913]
synonym: "benign mucous membrance pemphigoid" RELATED [GARD:0005913]
synonym: "benign mucous Membrane pemphigoid" EXACT [NCIT:C34907]
synonym: "benign mucous membrane pemphigoid" RELATED [DOID:11656]
synonym: "benign mucous membrane pemphigoid with ocular involvement" RELATED [DOID:11656, ICD9CM_2006:694.61]
synonym: "cicatricial pemphigoid" EXACT [MONDO:0006535, Orphanet:46486]
synonym: "cicatricial pemphigoid with ocular involvement" RELATED [DOID:11656]
synonym: "mucosal pemphigoid" EXACT [Orphanet:46486]
synonym: "Mucosynechial pemphigoid" EXACT [Orphanet:46486]
synonym: "ocular pemphigoid" RELATED [DOID:11656, SCTID:34250006]
synonym: "ocular pemphigus" RELATED [DOID:11656]
xref: COHD:376189 {source="MONDO:equivalentTo"}
xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"}
xref: EFO:1000680 {source="MONDO:equivalentTo"}
xref: GARD:0005913 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L12.1 {source="DOID:11656", source="ORDO:46486/ntbt", source="Orphanet:46486"}
xref: ICD9:694.6 {source="DOID:11656"}
xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10057052 {source="ORDO:46486/e", source="Orphanet:46486"}
xref: NCIT:C34907 {source="DOID:11656", source="MONDO:equivalentTo"}
xref: Orphanet:46486 {source="MONDO:equivalentTo"}
xref: SCTID:76092003 {source="DOID:11656", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.77/0.68"}
is_a: MONDO:0019337 {source="DOID:11656", source="EFO:1000680", source="EFO:1000680/inferred", source="Orphanet:46486", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune bullous skin disease
property_value: closeMatch http://identifiers.org/mesh/D010390
property_value: closeMatch http://identifiers.org/snomedct/193905009
property_value: closeMatch http://identifiers.org/snomedct/194590009
property_value: closeMatch http://identifiers.org/snomedct/200913007
property_value: closeMatch http://identifiers.org/snomedct/200914001
property_value: closeMatch http://identifiers.org/snomedct/200915000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030804
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157721
property_value: exactMatch DOID:11656
property_value: exactMatch http://identifiers.org/meddra/10057052
property_value: exactMatch http://identifiers.org/snomedct/76092003
property_value: exactMatch NCIT:C34907
property_value: exactMatch Orphanet:46486

[Term]
id: MONDO:0018747
name: acquired epidermolysis bullosa
def: "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." [Orphanet:46487]
subset: gard_rare
subset: ordo_disease {source="Orphanet:46487"}
synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, MONDO:patterns/acquired]
synonym: "EB acquisita" RELATED [GARD:0006360]
synonym: "EBA" EXACT [GARD:0006360, NCIT:C84690]
synonym: "epidermolysis bullosa acquisita" EXACT [MONDO:0006542, NCIT:C84690, Orphanet:46487]
synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690]
xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"}
xref: EFO:1000691 {source="MONDO:equivalentTo"}
xref: GARD:0006360 {source="MONDO:equivalentTo"}
xref: ICD10:L12.3 {source="DOID:4313", source="MONDO:equivalentTo", source="ORDO:46487/e", source="Orphanet:46487"}
xref: ICD10:L12.30 {source="DOID:4313"}
xref: ICD9:695.19 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056508 {source="ORDO:46487/e", source="Orphanet:46487"}
xref: MESH:D016107 {source="DOID:4313", source="MONDO:equivalentTo"}
xref: NCIT:C84690 {source="DOID:4313", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.87/0.11"}
xref: Orphanet:46487 {source="MONDO:equivalentTo", source="GARD:0006360"}
xref: SCTID:2772003 {source="DOID:4313", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0079293 {source="MEDGEN:kboom-pr98-c99", source="DOID:4313", source="MONDO:equivalentTo", source="NCIT:C84690", source="GARD:0006360", source="Orphanet:46487"}
is_a: MONDO:0006541 {source="DOID:4313", source="EFO:1000691", source="MESH:D016107", source="MONDO:Redundant", source="NCIT:C84690"} ! epidermolysis bullosa
is_a: MONDO:0019337 {source="Orphanet:46487"} ! autoimmune bullous skin disease
intersection_of: MONDO:0006541 ! epidermolysis bullosa
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 {source="GARD:0006360"} ! acquired
property_value: closeMatch http://identifiers.org/snomedct/200911009
property_value: exactMatch DOID:4313
property_value: exactMatch http://identifiers.org/meddra/10056508
property_value: exactMatch http://identifiers.org/mesh/D016107
property_value: exactMatch http://identifiers.org/snomedct/2772003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079293
property_value: exactMatch NCIT:C84690
property_value: exactMatch Orphanet:46487
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita xsd:anyURI {source="GARD:0006360"}

[Term]
id: MONDO:0018748
name: linear IgA Dermatosis
def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." [MESH:D062027]
subset: ordo_disease {source="Orphanet:46488"}
xref: GARD:0010960 {source="MONDO:equivalentTo"}
xref: ICD10:L10.8 {source="ORDO:46488/ntbt", source="Orphanet:46488"}
xref: MedDRA:10024515 {source="ORDO:46488/e", source="Orphanet:46488"}
xref: MESH:D062027 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:46488 {source="MONDO:equivalentTo"}
xref: SCTID:95330001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406650 {source="MONDO:equivalentTo", source="ORDO:46488/e", source="Orphanet:46488"}
is_a: MONDO:0019337 {source="Orphanet:46488"} ! autoimmune bullous skin disease
property_value: exactMatch http://identifiers.org/meddra/10024515
property_value: exactMatch http://identifiers.org/mesh/D062027
property_value: exactMatch http://identifiers.org/snomedct/95330001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406650
property_value: exactMatch Orphanet:46488

[Term]
id: MONDO:0018749
name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
def: "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." [Orphanet:46532]
subset: ordo_disease {source="Orphanet:46532"}
synonym: "HPFH-beta-thalassemia syndrome" EXACT [Orphanet:46532]
xref: HGNC:3627 {source="ORDO:46532/btnt", source="Orphanet:46532"}
xref: HGNC:5153 {source="ORDO:46532/btnt", source="Orphanet:46532"}
xref: ICD10:D56.4 {source="ORDO:46532/e", source="ORDO:46532/specific", source="Orphanet:46532"}
xref: Orphanet:46532 {source="MONDO:equivalentTo"}
xref: UMLS:CN205122 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016488 {source="Orphanet:46532"} ! beta-thalassemia associated with another hemoglobin anomaly
property_value: broadMatch http://identifiers.org/omim/141749
property_value: broadMatch http://identifiers.org/omim/142470
property_value: broadMatch http://identifiers.org/omim/613566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205122
property_value: exactMatch Orphanet:46532

[Term]
id: MONDO:0018750
name: class I glucose-6-phosphate dehydrogenase deficiency
subset: ordo_disease {source="Orphanet:466026"}
synonym: "Class I G6PD deficiency" EXACT [Orphanet:466026]
synonym: "severe hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026]
xref: Orphanet:466026 {source="MONDO:equivalentTo"}
is_a: MONDO:0010480 ! anemia, nonspherocytic hemolytic, due to G6PD deficiency
is_a: MONDO:0017688 ! disorder of glycolysis
is_a: MONDO:0020106 {source="Orphanet:466026"} ! hemolytic anemia due to a disorder of glycolytic enzymes
property_value: exactMatch Orphanet:466026

[Term]
id: MONDO:0018751
name: genetic otorhinolaryngologic disease
def: "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:466084"}
synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic]
xref: Orphanet:466084 {source="MONDO:equivalentTo"}
xref: UMLS:CN242186 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0024623 ! otorhinolaryngologic disease
intersection_of: MONDO:0024623 ! otorhinolaryngologic disease
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242186
property_value: exactMatch Orphanet:466084

[Term]
id: MONDO:0018752
name: exercise-induced malignant hyperthermia
subset: ordo_disease {source="Orphanet:466650"}
synonym: "Exertional heat stroke" EXACT [Orphanet:466650]
xref: ICD10:T88.3 {source="ORDO:466650/ntbt", source="Orphanet:466650"}
xref: Orphanet:466650 {source="MONDO:equivalentTo"}
xref: SCTID:735907005 {source="MONDO:equivalentTo"}
is_a: MONDO:0018753 {source="Orphanet:466650"} ! rare disease with malignant hyperthermia
property_value: exactMatch http://identifiers.org/snomedct/735907005
property_value: exactMatch Orphanet:466650

[Term]
id: MONDO:0018753
name: rare disease with malignant hyperthermia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:466658"}
xref: Orphanet:466658 {source="MONDO:equivalentTo"}
xref: UMLS:CN242072 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MONDO:Redundant", source="Orphanet:466658"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242072
property_value: exactMatch Orphanet:466658
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018754
name: cyanide poisoning
subset: ordo_clinical_situation {source="Orphanet:466670"}
xref: ICD10:T65.0 {source="Orphanet:466670", source="ORDO:466670/e"}
xref: ICD9:989.0 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:466670 {source="MONDO:equivalentTo"}
xref: SCTID:66207005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.36"}
xref: UMLS:CN242145 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:466670"} ! rare intoxication due to medical products
property_value: exactMatch http://identifiers.org/snomedct/66207005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242145
property_value: exactMatch Orphanet:466670

[Term]
id: MONDO:0018755
name: scorpion envenomation
def: "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." [Orphanet:466677]
subset: ordo_disease {source="Orphanet:466677"}
synonym: "poisoning caused by scorpion venom" EXACT []
synonym: "poisoning due to scorpion venom" EXACT []
synonym: "toxic effect of venom of scorpion" EXACT []
xref: ICD10:T63.2 {source="ORDO:466677/e", source="Orphanet:466677"}
xref: Orphanet:466677 {source="MONDO:equivalentTo"}
xref: SCTID:217670007 {source="MONDO:equivalentTo"}
xref: UMLS:CN242103 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:466677", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/217670007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242103
property_value: exactMatch Orphanet:466677

[Term]
id: MONDO:0018756
name: euthyroid Graves orbitopathy
comment: Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970
subset: ordo_disease {source="Orphanet:466682"}
synonym: "euthyroid Graves ophthalmopathy" EXACT [Orphanet:466682]
xref: ICD10:H05.2 {source="ORDO:466682/ntbt", source="Orphanet:466682"}
xref: Orphanet:466682 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 ! autoimmune disease
relationship: disease_arises_from_feature MONDO:0005364 {source="PMID:27284451"} ! Graves disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch Orphanet:466682

[Term]
id: MONDO:0018757
name: supratip dysplasia
def: "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." [Orphanet:466695]
subset: ordo_morphological_anomaly {source="Orphanet:466695"}
xref: ICD10:J34.8 {source="Orphanet:466695", source="ORDO:466695/ntbt"}
xref: Orphanet:466695 {source="MONDO:equivalentTo"}
is_a: MONDO:0015503 {source="Orphanet:466695"} ! nose and cavum anomaly
property_value: exactMatch Orphanet:466695

[Term]
id: MONDO:0018758
name: familial patent arterial duct
def: "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729]
subset: ordo_morphological_anomaly {source="Orphanet:466729"}
xref: Orphanet:466729 {source="MONDO:equivalentTo"}
xref: UMLS:CN242171 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017131 {source="Orphanet:466729"} ! genetic cardiac anomaly
is_a: MONDO:0019822 {source="Orphanet:466729"} ! arterial duct anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242171
property_value: exactMatch Orphanet:466729

[Term]
id: MONDO:0018759
name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
subset: ordo_disease {source="Orphanet:466921"}
xref: Orphanet:466921 {source="MONDO:equivalentTo"}
xref: UMLS:CN776870 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016106 {source="Orphanet:466921"} ! progressive muscular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776870
property_value: exactMatch Orphanet:466921

[Term]
id: MONDO:0018760
name: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
subset: ordo_malformation_syndrome {source="Orphanet:466943"}
xref: Orphanet:466943 {source="MONDO:equivalentTo"}
xref: UMLS:CN242159 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466943", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:466943"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242159
property_value: exactMatch Orphanet:466943

[Term]
id: MONDO:0018761
name: SMARCA4-deficient sarcoma of thorax
subset: ordo_disease {source="Orphanet:466962"}
synonym: "SMARCA4-deficient thoracic sarcoma" EXACT [Orphanet:466962]
xref: Orphanet:466962 {source="MONDO:equivalentTo"}
xref: UMLS:CN242100 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000376 ! respiratory system cancer
is_a: MONDO:0018078 {source="Orphanet:466962"} ! soft tissue sarcoma
is_a: MONDO:0020641 {source="Orphanet:466962"} ! respiratory tract neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242100
property_value: exactMatch Orphanet:466962

[Term]
id: MONDO:0018762
name: non-acquired combined pituitary hormone deficiency
def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." [Orphanet:467]
subset: ordo_group_of_disorders {source="Orphanet:467"}
synonym: "congenital combined pituitary hormone deficiency" EXACT [Orphanet:467]
synonym: "congenital hypopituitarism" EXACT [Orphanet:467]
xref: ICD10:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="ORDO:467/attributed", source="ORDO:467/ntbt"}
xref: Orphanet:467 {source="MONDO:equivalentTo"}
is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone deficiency
property_value: exactMatch Orphanet:467

[Term]
id: MONDO:0018763
name: Tubulinopathy-associated dysgyria
subset: ordo_disease {source="Orphanet:467166"}
synonym: "brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome" EXACT [Orphanet:467166]
xref: Orphanet:467166 {source="MONDO:equivalentTo"}
xref: UMLS:CN242152 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017118 {source="Orphanet:467166"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0017122 {source="Orphanet:467166"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242152
property_value: exactMatch Orphanet:467166

[Term]
id: MONDO:0018764
name: microcephalic primordial dwarfism due to RTTN deficiency
def: "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." [Orphanet:468631]
subset: ordo_malformation_syndrome {source="Orphanet:468631"}
xref: Orphanet:468631 {source="MONDO:equivalentTo"}
is_a: MONDO:0017950 {source="Orphanet:468631"} ! microcephalic primordial dwarfism
property_value: exactMatch Orphanet:468631

[Term]
id: MONDO:0018765
name: cryptogenic multifocal ulcerous stenosing enteritis
subset: ordo_disease {source="Orphanet:468635"}
synonym: "CMUSE" EXACT [Orphanet:468635]
xref: Orphanet:468635 {source="MONDO:equivalentTo"}
xref: SCTID:722849002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4302263 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:468635"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/722849002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302263
property_value: exactMatch Orphanet:468635

[Term]
id: MONDO:0018766
name: chronic enteropathy associated with SLCO2A1 gene
subset: ordo_disease {source="Orphanet:468641"}
synonym: "CEAS" EXACT [Orphanet:468641]
xref: Orphanet:468641 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:468641"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: exactMatch Orphanet:468641

[Term]
id: MONDO:0018767
name: severe primary trimethylaminuria
subset: ordo_disease {source="Orphanet:468726"}
xref: ICD10:E88.8 {source="ORDO:468726/ntbt", source="Orphanet:468726", source="ORDO:468726/inclusion"}
xref: Orphanet:468726 {source="MONDO:equivalentTo"}
is_a: MONDO:0011182 ! trimethylaminuria (disease)
is_a: MONDO:0019189 {source="Orphanet:468726"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch Orphanet:468726

[Term]
id: MONDO:0018768
name: familial cold autoinflammatory syndrome
def: "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." [Orphanet:47045]
subset: ordo_disease {source="Orphanet:47045"}
synonym: "familial cold autoinflammatory syndrome" EXACT [Orphanet:47045]
synonym: "familial cold urticaria" RELATED [Orphanet:47045]
synonym: "familial polymorphous cold eruption" RELATED [GARD:0009535]
synonym: "FCAS" EXACT [Orphanet:47045]
synonym: "FCU" EXACT [Orphanet:47045]
xref: DC:0000146 {source="MONDO:equivalentTo"}
xref: DOID:0090061 {source="MONDO:equivalentTo"}
xref: GARD:0009535 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L50.2 {source="ORDO:47045/ntbt", source="Orphanet:47045", source="DOID:0090061", source="ORDO:47045/inclusion"}
xref: MedDRA:10064570 {source="ORDO:47045/e", source="Orphanet:47045"}
xref: NCIT:C119053 {source="MONDO:kboom-pr-0.94/0.78/1.31", source="MONDO:equivalentTo"}
xref: OMIMPS:120100 {source="DC:0000146", source="MONDO:equivalentTo", source="DOID:0090061"}
xref: Orphanet:47045 {source="MONDO:equivalentTo", source="DOID:0090061"}
xref: UMLS:C0343068 {source="MONDO:equivalentTo", source="ORDO:47045/e", source="Orphanet:47045", source="NCIT:C119053"}
xref: UMLS:CN230757 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016168 {source="Orphanet:47045"} ! cryopyrin-associated periodic syndrome
property_value: exactMatch DOID:0090061
property_value: exactMatch http://identifiers.org/meddra/10064570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230757
property_value: exactMatch NCIT:C119053
property_value: exactMatch Orphanet:47045

[Term]
id: MONDO:0018769
name: isosporiasis
def: "An intestinal infection with Isospora belli." [NCIT:C4076]
subset: ordo_disease {source="Orphanet:472"}
synonym: "Cystoisospora belli caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cystoisospora belli disease or disorder" EXACT []
synonym: "Cystoisospora belli infectious disease" EXACT []
synonym: "cystoisosporiasis" EXACT [MONDO:0005727, Orphanet:472]
synonym: "infection by Isospora belli and Isospora hominis" RELATED [DOID:2112, MTHICD9_2006:007.2]
synonym: "Isosporosis" EXACT [DOID:2112]
xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"}
xref: EFO:0007232 {source="MONDO:equivalentTo"}
xref: GARD:0003033 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:A07.3 {source="DOID:2112", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472"}
xref: MedDRA:10023076 {source="ORDO:472/e", source="Orphanet:472"}
xref: MESH:D021865 {source="DOID:2112", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472", source="EFO:0007232"}
xref: NCIT:C4076 {source="DOID:2112", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:472 {source="MONDO:equivalentTo"}
xref: SCTID:371423007 {source="DOID:2112", source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0311386 {source="DOID:2112", source="NCIT:C4076", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472"}
is_a: MONDO:0005707 {source="DOID:2112", source="MESH:D021865", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/240373006
property_value: closeMatch http://identifiers.org/snomedct/360427001
property_value: closeMatch http://identifiers.org/snomedct/73034009
property_value: exactMatch DOID:2112
property_value: exactMatch http://identifiers.org/meddra/10023076
property_value: exactMatch http://identifiers.org/mesh/D021865
property_value: exactMatch http://identifiers.org/snomedct/371423007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311386
property_value: exactMatch NCIT:C4076
property_value: exactMatch Orphanet:472

[Term]
id: MONDO:0018770
name: Jeune syndrome
def: "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." [Orphanet:474]
subset: ordo_malformation_syndrome {source="Orphanet:474"}
synonym: "asphyxiating thoracic dystrophy" RELATED [DOID:0050592]
synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [Orphanet:474]
synonym: "ATD" RELATED [GARD:0003049]
synonym: "Chondroectodermal dysplasia-like syndrome" RELATED [GARD:0003049]
synonym: "infantile thoracic dystrophy" RELATED [GARD:0003049]
synonym: "JATD" EXACT [Orphanet:474]
synonym: "Jeune asphyxiating thoracic dystrophy" EXACT [Orphanet:474]
synonym: "Jeune syndrome" EXACT [DOID:0050592]
synonym: "Jeune's syndrome" RELATED [GARD:0003049]
synonym: "short-rib thoracic dysplasia" EXACT [OMIMPS:208500]
synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID:0050592]
synonym: "thoracic pelvic phalangeal dystrophy" EXACT [DOID:0050592, PMID:6636109]
xref: DOID:0050592 {source="MONDO:equivalentTo"}
xref: GARD:0003049 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.2 {source="ORDO:474/inclusion", source="ORDO:474/ntbt", source="Orphanet:474", source="DOID:0050592"}
xref: MedDRA:10057621 {source="ORDO:474/e", source="Orphanet:474"}
xref: MESH:C537571 {source="MONDO:equivalentTo", source="ORDO:474/e", source="Orphanet:474"}
xref: NCIT:C84794 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.74/0.99"}
xref: OMIMPS:208500 {source="MONDO:equivalentTo", source="DOID:0050592"}
xref: Orphanet:474 {source="MONDO:equivalentTo", source="DOID:0050592"}
xref: SCTID:75049004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265275 {source="MONDO:equivalentTo", source="ORDO:474/e", source="Orphanet:474", source="NCIT:C84794"}
is_a: MONDO:0015461 {source="Orphanet:474"} ! short rib-polydactyly syndrome
is_a: MONDO:0015962 {source="Orphanet:474"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:474"} ! rare renal tubular disease
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch DOID:0050592
property_value: exactMatch http://identifiers.org/meddra/10057621
property_value: exactMatch http://identifiers.org/mesh/C537571
property_value: exactMatch http://identifiers.org/snomedct/75049004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265275
property_value: exactMatch NCIT:C84794
property_value: exactMatch Orphanet:474

[Term]
id: MONDO:0018771
name: congenital anomaly of ventricular septum
def: "A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:474347"}
synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347]
synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern]
synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347]
synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347]
xref: Orphanet:474347 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
is_a: MONDO:0019512 {source="MONDO:Redundant", source="Orphanet:474347"} ! congenital heart malformation
property_value: exactMatch Orphanet:474347

[Term]
id: MONDO:0018772
name: Joubert syndrome
def: "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [Orphanet:475]
subset: ordo_disease {source="Orphanet:475"}
synonym: "cerebellar vermis agenesis" RELATED [GARD:0006802]
synonym: "cerebelloparenchymal disorder IV" EXACT [Orphanet:475]
synonym: "classic Joubert syndrome" EXACT [Orphanet:475]
synonym: "CPD IV" EXACT [Orphanet:475]
synonym: "JBTS" EXACT [DOID:0050777]
synonym: "Joubert syndrome type A" EXACT [Orphanet:475]
synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475]
synonym: "pure Joubert syndrome" EXACT [Orphanet:475]
xref: DOID:0050777 {source="MONDO:equivalentTo"}
xref: GARD:0006802 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="ORDO:475/attributed", source="ORDO:475/ntbt", source="DOID:0050777", source="Orphanet:475"}
xref: NCIT:C74996 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.69/0.83"}
xref: OMIMPS:213300 {source="DOID:0050777", source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="DOID:0050777", source="MONDO:equivalentTo"}
xref: SCTID:716997004 {source="MONDO:kboom-pr-0.90/0.67/1.23", source="MONDO:equivalentTo"}
is_a: MONDO:0005308 {source="DOID:0050777", source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0015369 {source="Orphanet:475"} ! Joubert syndrome and related disorders
is_a: MONDO:0020130 {source="Orphanet:475"} ! malformation of the cerebellar vermis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431399
property_value: exactMatch DOID:0050777
property_value: exactMatch http://identifiers.org/snomedct/716997004
property_value: exactMatch NCIT:C74996
property_value: exactMatch Orphanet:475

[Term]
id: MONDO:0018773
name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
subset: ordo_disease {source="Orphanet:476093"}
xref: Orphanet:476093 {source="MONDO:equivalentTo"}
xref: UMLS:CN776822 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015362 {source="Orphanet:476093"} ! autosomal dominant distal hereditary motor neuropathy
is_a: MONDO:0018943 {source="Orphanet:476093"} ! myofibrillar myopathy (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776822
property_value: exactMatch Orphanet:476093

[Term]
id: MONDO:0018774
name: erythrokeratodermia-cardiomyopathy syndrome
def: "Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." [Orphanet:476096]
subset: ordo_disease {source="Orphanet:476096"}
synonym: "EKC syndrome" EXACT [Orphanet:476096]
xref: Orphanet:476096 {source="MONDO:equivalentTo"}
xref: UMLS:CN776912 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016337 {source="Orphanet:476096"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0019183 {source="Orphanet:476096"} ! inherited odontologic disease
is_a: MONDO:0019270 {source="Orphanet:476096"} ! erythrokeratoderma
is_a: MONDO:0020014 {source="Orphanet:476096"} ! rare disease with odontological manifestation
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776912
property_value: exactMatch Orphanet:476096

[Term]
id: MONDO:0018775
name: axonal hereditary motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:476109"}
synonym: "axonal HMSN" EXACT [Orphanet:476109]
xref: Orphanet:476109 {source="MONDO:equivalentTo"}
is_a: MONDO:0015358 {source="Orphanet:476109"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015626 {source="Orphanet:476109"} ! Charcot-Marie-Tooth disease
property_value: exactMatch Orphanet:476109

[Term]
id: MONDO:0018776
name: demyelinating hereditary motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:476116"}
synonym: "demyelinating HMSN" EXACT [Orphanet:476116]
xref: Orphanet:476116 {source="MONDO:equivalentTo"}
is_a: MONDO:0015358 {source="Orphanet:476116"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015626 {source="Orphanet:476116"} ! Charcot-Marie-Tooth disease
property_value: exactMatch Orphanet:476116

[Term]
id: MONDO:0018777
name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
subset: ordo_malformation_syndrome {source="Orphanet:476119"}
xref: Orphanet:476119 {source="MONDO:equivalentTo"}
xref: UMLS:CN776826 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017434 {source="Orphanet:476119"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019280 {source="Orphanet:476119"} ! hypertrichosis (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776826
property_value: exactMatch Orphanet:476119

[Term]
id: MONDO:0018778
name: intermediate Charcot-Marie-Tooth disease
subset: ordo_group_of_disorders {source="Orphanet:476123"}
synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [DOID:0050543]
synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [MONDO:0000350]
synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [DOID:0050543]
synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet:476123]
xref: DOID:0050543 {source="MONDO:equivalentTo"}
xref: Orphanet:476123 {source="MONDO:equivalentTo"}
xref: UMLS:CN776860 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015358 {source="Orphanet:476123"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015626 {source="DOID:0050543", source="Orphanet:476123"} ! Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0050543
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776860
property_value: exactMatch Orphanet:476123

[Term]
id: MONDO:0018779
name: hypercontractile muscle stiffness syndrome
subset: ordo_group_of_disorders {source="Orphanet:476403"}
xref: Orphanet:476403 {source="MONDO:equivalentTo"}
xref: UMLS:CN776841 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020343 {source="Orphanet:476403"} ! alpha-crystallinopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776841
property_value: exactMatch Orphanet:476403

[Term]
id: MONDO:0018780
name: congenital generalized hypercontractile muscle stiffness syndrome
subset: ordo_disease {source="Orphanet:476406"}
xref: Orphanet:476406 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015329 {source="Orphanet:476406"} ! malformation syndrome with short stature
is_a: MONDO:0018779 {source="Orphanet:476406"} ! hypercontractile muscle stiffness syndrome
property_value: exactMatch Orphanet:476406

[Term]
id: MONDO:0018781
name: KID syndrome
def: "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." [Orphanet:477]
comment: Editor note: Orphanet classifies as both AD and AR
subset: ordo_disease {source="Orphanet:477"}
subset: ordo_inheritance_inconsistent
synonym: "ichthyosis hystrix Rheydt type" EXACT [Orphanet:477]
synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003113]
synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477]
synonym: "KID/HID syndrome" EXACT [Orphanet:477]
synonym: "Senter syndrome" EXACT [Orphanet:477]
xref: GARD:0003113 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q80.8 {source="Orphanet:477", source="ORDO:477/attributed", source="ORDO:477/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048786 {source="Orphanet:477", source="ORDO:477/e"}
xref: OMIMPS:148210 {source="MONDO:equivalentTo"}
xref: Orphanet:477 {source="MONDO:equivalentTo"}
xref: SCTID:2625009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.93"}
xref: UMLS:C0265336 {source="Orphanet:477", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN205136 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017274 {source="Orphanet:477"} ! autosomal ichthyosis syndrome with other associated signs
is_a: MONDO:0017669 {source="Orphanet:477/inferred"} ! disease with diffuse palmoplantar keratoderma as a major feature
is_a: MONDO:0019287 {source="Orphanet:477", source="linkedlifedata"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019589 {source="Orphanet:477"} ! syndromic genetic deafness
is_a: MONDO:0020269 {source="Orphanet:477"} ! syndromic ichthyosis associated with ocular features
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665333
property_value: exactMatch http://identifiers.org/meddra/10048786
property_value: exactMatch http://identifiers.org/snomedct/2625009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205136
property_value: exactMatch Orphanet:477

[Term]
id: MONDO:0018782
name: type 1 interferonopathy
subset: ordo_group_of_disorders {source="Orphanet:477647"}
xref: Orphanet:477647 {source="MONDO:equivalentTo"}
is_a: MONDO:0017133 {source="Orphanet:477647"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019751 {source="Orphanet:477647"} ! autoinflammatory syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch Orphanet:477647

[Term]
id: MONDO:0018783
name: fibroblastic rheumatism
subset: ordo_disease {source="Orphanet:477650"}
xref: ICD9:729.0 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:477650 {source="MONDO:equivalentTo"}
xref: SCTID:399964004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1302753 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="Orphanet:477650"} ! rheumatologic disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/399964004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302753
property_value: exactMatch Orphanet:477650

[Term]
id: MONDO:0018784
name: pediatric multiple sclerosis
def: "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." [Orphanet:477738]
subset: gard_rare {source="GARD:0010443"}
subset: ordo_disease {source="Orphanet:477738"}
synonym: "MS pediatric" RELATED [GARD:0010443]
synonym: "multiple sclerosis, pediatric" RELATED [GARD:0010443]
synonym: "pediatric MS" RELATED [GARD:0010443]
xref: GARD:0010443 {source="MONDO:equivalentTo"}
xref: Orphanet:477738 {source="MONDO:equivalentTo"}
xref: UMLS:CN037005 {source="MONDO:equivalentTo"}
is_a: MONDO:0016428 {source="Orphanet:477738"} ! multiple sclerosis variant
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN037005
property_value: exactMatch Orphanet:477738
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis xsd:anyURI {source="GARD:0010443"}

[Term]
id: MONDO:0018785
name: obsolete nodular fasciitis
def: "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827]
is_obsolete: true
replaced_by: MONDO:0004187

[Term]
id: MONDO:0018786
name: pontine autosomal dominant microangiopathy with leukoencephalopathy
subset: ordo_disease {source="Orphanet:477749"}
synonym: "PADMAL" EXACT [Orphanet:477749]
xref: Orphanet:477749 {source="MONDO:equivalentTo"}
is_a: MONDO:0018789 {source="Orphanet:477749"} ! COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
property_value: exactMatch Orphanet:477749

[Term]
id: MONDO:0018787
name: genetic cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:477754"}
xref: Orphanet:477754 {source="MONDO:equivalentTo"}
xref: UMLS:CN776941 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015953 {source="Orphanet:477754"} ! genetic central nervous system and retinal vascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776941
property_value: exactMatch Orphanet:477754

[Term]
id: MONDO:0018788
name: COL4A1 or COL4A2-related cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:477759"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759]
xref: Orphanet:477759 {source="MONDO:equivalentTo"}
xref: UMLS:CN776854 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018787 {source="Orphanet:477759"} ! genetic cerebral small vessel disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776854
property_value: exactMatch Orphanet:477759

[Term]
id: MONDO:0018789
name: COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
subset: ordo_group_of_disorders {source="Orphanet:477762"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy" EXACT [Orphanet:477762]
xref: Orphanet:477762 {source="MONDO:equivalentTo"}
xref: UMLS:CN776856 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018788 {source="Orphanet:477762"} ! COL4A1 or COL4A2-related cerebral small vessel disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776856
property_value: exactMatch Orphanet:477762

[Term]
id: MONDO:0018790
name: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
subset: ordo_group_of_disorders {source="Orphanet:477765"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy" EXACT [Orphanet:477765]
xref: Orphanet:477765 {source="MONDO:equivalentTo"}
xref: UMLS:CN776855 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018788 {source="Orphanet:477765"} ! COL4A1 or COL4A2-related cerebral small vessel disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776855
property_value: exactMatch Orphanet:477765

[Term]
id: MONDO:0018791
name: Moyomoya angiopathy
subset: ordo_group_of_disorders {source="Orphanet:477768"}
xref: Orphanet:477768 {source="MONDO:equivalentTo"}
is_a: MONDO:0020676 {source="Orphanet:477768"} ! disease of central nervous system or retinal vasculature
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: exactMatch Orphanet:477768

[Term]
id: MONDO:0018792
name: Moyamoya syndrome
subset: ordo_group_of_disorders {source="Orphanet:477771"}
synonym: "rare disorder with a Moyamoya angiopathy" RELATED [Orphanet:477771]
xref: Orphanet:477771 {source="MONDO:equivalentTo"}
xref: UMLS:CN776904 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015953 {source="Orphanet:477771"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018791 {source="Orphanet:477771"} ! Moyomoya angiopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776904
property_value: exactMatch Orphanet:477771

[Term]
id: MONDO:0018793
name: primary condylar hyperplasia
subset: ordo_disease {source="Orphanet:477781"}
synonym: "type 1 condylar hyperplasia" EXACT [Orphanet:477781]
xref: Orphanet:477781 {source="MONDO:equivalentTo"}
is_a: MONDO:0016221 {source="Orphanet:477781"} ! temporomandibular joint anomaly
property_value: exactMatch Orphanet:477781

[Term]
id: MONDO:0018794
name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
subset: ordo_disease {source="Orphanet:477787"}
synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP" RELATED [OMIM:618372]
synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372]
synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787]
synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787]
xref: OMIM:618372 {source="MONDO:equivalentTo"}
xref: Orphanet:477787 {source="MONDO:equivalentTo", source="OMIM:618372"}
xref: UMLS:CN776897 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005020 {source="Orphanet:477787"} ! intestinal disease
is_a: MONDO:0017142 {source="Orphanet:477787"} ! hemorrhagic disorder due to a qualitative platelet defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193061
property_value: exactMatch http://identifiers.org/omim/618372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776897
property_value: exactMatch Orphanet:477787

[Term]
id: MONDO:0018795
name: syndromic constitutional thrombocytopenia
subset: ordo_group_of_disorders {source="Orphanet:477794"}
xref: Orphanet:477794 {source="MONDO:equivalentTo"}
xref: UMLS:CN776900 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="MONDO:cjm"} ! thrombocytopenia
is_a: MONDO:0017141 {source="Orphanet:477794"} ! hemorrhagic disorder due to a constitutional thrombocytopenia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776900
property_value: exactMatch Orphanet:477794

[Term]
id: MONDO:0018796
name: isolated constitutional thrombocytopenia
subset: ordo_group_of_disorders {source="Orphanet:477797"}
synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797]
synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797]
xref: Orphanet:477797 {source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="MONDO:cjm"} ! thrombocytopenia
is_a: MONDO:0017141 {source="Orphanet:477797"} ! hemorrhagic disorder due to a constitutional thrombocytopenia
property_value: exactMatch Orphanet:477797

[Term]
id: MONDO:0018797
name: obsolete genetic cardiac malformation
subset: ordo_group_of_disorders {source="Orphanet:477805"}
xref: Orphanet:477805 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:477805
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1175 xsd:string
is_obsolete: true
consider: MONDO:0005453

[Term]
id: MONDO:0018798
name: other genetic dermis disorder
comment: Editor note: consider obsoleting
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:477808"}
xref: Orphanet:477808 {source="MONDO:equivalentTo"}
xref: UMLS:CN776936 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:477808", source="Orphanet:477808/inferred"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776936
property_value: exactMatch Orphanet:477808

[Term]
id: MONDO:0018799
name: obsolete rare hypercholesterolemia
def: "Rare hypercholesterolemia." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:477811"}
synonym: "rare hypercholesterolemia" EXACT []
xref: Orphanet:477811 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN776861 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776861
property_value: exactMatch Orphanet:477811
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0018800
name: Kallmann syndrome
def: "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." [Orphanet:478]
subset: ordo_disease {source="Orphanet:478"}
synonym: "congenital hypogonadotropic hypogonadism with anosmia" EXACT [Orphanet:478]
synonym: "familial hypogonadism with anosmia" EXACT [CSP2005:2586-8846, DOID:3614]
synonym: "hypogonadism with anosmia" EXACT [DOID:3614]
synonym: "hypogonadotropic hypogonadism with anosmia" EXACT [NCIT:C75479]
synonym: "Kallman syndrome" EXACT [DOID:3614]
synonym: "Kallman's syndrome" EXACT [DOID:3614]
synonym: "Olfacto-genital pathological sequence" EXACT [Orphanet:478]
xref: DOID:3614 {source="MONDO:equivalentTo"}
xref: GARD:0010771 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="ORDO:478/inclusion", source="DOID:3614", source="ORDO:478/ntbt"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10053142 {source="Orphanet:478", source="ORDO:478/e"}
xref: MESH:D017436 {source="Orphanet:478", source="MONDO:equivalentTo", source="DOID:3614", source="ORDO:478/e"}
xref: NCIT:C75479 {source="MONDO:equivalentTo", source="DOID:3614", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:478 {source="MONDO:equivalentTo", source="DOID:3614"}
xref: SCTID:93559003 {source="MONDO:equivalentTo", source="DOID:3614", source="MONDO:kboom-pr-0.94/0.75/1.75"}
xref: UMLS:C0162809 {source="Orphanet:478", source="MONDO:equivalentTo", source="DOID:3614", source="NCIT:C75479", source="ORDO:478/e"}
is_a: MONDO:0002254 {source="MONDOLEX:0018800", source="NCIT:C75479"} ! syndromic disease
is_a: MONDO:0018555 {source="DOID:3614", source="MONDOLEX:0018800", source="NCIT:C75479", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypogonadotropic hypogonadism
property_value: closeMatch http://identifiers.org/snomedct/190559001
property_value: exactMatch DOID:3614
property_value: exactMatch http://identifiers.org/meddra/10053142
property_value: exactMatch http://identifiers.org/mesh/D017436
property_value: exactMatch http://identifiers.org/snomedct/93559003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162809
property_value: exactMatch NCIT:C75479
property_value: exactMatch Orphanet:478

[Term]
id: MONDO:0018801
name: congenital bilateral absence of vas deferens
def: "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." [Orphanet:48]
subset: ordo_morphological_anomaly {source="Orphanet:48"}
synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48]
synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48]
xref: GARD:0005461 {source="MONDO:equivalentTo"}
xref: ICD10:Q55.4 {source="ORDO:48/attributed", source="ORDO:48/ntbt", source="Orphanet:48"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10010670 {source="ORDO:48/e", source="Orphanet:48"}
xref: OMIMPS:277180 {source="MONDO:equivalentTo", source="DC:0000730"}
xref: Orphanet:48 {source="MONDO:equivalentTo"}
xref: SCTID:275416002 {source="MONDO:kboom-pr-0.89/0.75/0.37", source="MONDO:equivalentTo"}
is_a: MONDO:0015933 {source="Orphanet:48"} ! non-syndromic urogenital tract malformation of male
is_a: MONDO:0018407 {source="Orphanet:48"} ! male infertility due to obstructive azoospermia of genetic origin
property_value: exactMatch http://identifiers.org/meddra/10010670
property_value: exactMatch http://identifiers.org/mesh/C535984
property_value: exactMatch http://identifiers.org/snomedct/275416002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403814
property_value: exactMatch Orphanet:48

[Term]
id: MONDO:0018804
name: MYO5B-related progressive familial intrahepatic cholestasis
subset: ordo_clinical_subtype {source="Orphanet:480491"}
synonym: "MYO5B deficiency" EXACT [Orphanet:480491]
xref: Orphanet:480491 {source="MONDO:equivalentTo"}
xref: UMLS:CN776887 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015762 {source="MONDOLEX:0018804", source="Orphanet:480491"} ! progressive familial intrahepatic cholestasis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776887
property_value: exactMatch Orphanet:480491

[Term]
id: MONDO:0018805
name: choledochal cyst
def: "Cystic dilatation of the hepatic duct or bile duct." [NCIT:P378]
subset: ordo_morphological_anomaly {source="Orphanet:480501"}
synonym: "congenital choledochal cyst" RELATED [DOID:899, MTHICD9_2006:751.69]
synonym: "congenital cystic dilatation of the biliary tract" EXACT [Orphanet:480501]
xref: COHD:4134570 {source="MONDO:equivalentTo"}
xref: DOID:899 {source="MONDO:equivalentTo"}
xref: ICD10:Q44.4 {source="DOID:899", source="MONDO:equivalentTo"}
xref: ICD9:751.69 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D015529 {source="DOID:899", source="MONDO:equivalentTo"}
xref: Orphanet:480501 {source="MONDO:equivalentTo"}
xref: SCTID:398197009 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="DOID:899", source="MONDO:equivalentTo"}
is_a: MONDO:0002887 {source="DOID:899", source="MESH:D015529", source="linkedlifedata", source="linkedlifedata/inferred"} ! bile duct disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/30533003
property_value: closeMatch http://identifiers.org/snomedct/440471007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008340
property_value: exactMatch DOID:899
property_value: exactMatch http://identifiers.org/mesh/D015529
property_value: exactMatch http://identifiers.org/snomedct/398197009
property_value: exactMatch NCIT:C2943
property_value: exactMatch Orphanet:480501

[Term]
id: MONDO:0018806
name: primary intrahepatic lithiasis
subset: ordo_disease {source="Orphanet:480506"}
synonym: "PIHL" EXACT [Orphanet:480506]
synonym: "primary hepatolithiasis" EXACT [Orphanet:480506]
xref: Orphanet:480506 {source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="Orphanet:480506"} ! biliary tract disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: exactMatch Orphanet:480506

[Term]
id: MONDO:0018807
name: idiopathic ductopenia
subset: ordo_disease {source="Orphanet:480512"}
synonym: "IAD" EXACT [Orphanet:480512]
synonym: "idiopathic adult ductopenia" EXACT [Orphanet:480512]
xref: Orphanet:480512 {source="MONDO:equivalentTo"}
xref: UMLS:CN244899 {source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="Orphanet:480512"} ! biliary tract disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244899
property_value: exactMatch Orphanet:480512

[Term]
id: MONDO:0018808
name: Caroli syndrome
subset: ordo_malformation_syndrome {source="Orphanet:480520"}
xref: Orphanet:480520 {source="MONDO:equivalentTo"}
xref: UMLS:CN776859 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015509 {source="Orphanet:480520"} ! genetic biliary tract disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776859
property_value: exactMatch Orphanet:480520

[Term]
id: MONDO:0018809
name: idiopathic peliosis hepatis
subset: ordo_disease {source="Orphanet:480524"}
synonym: "idiopathic peliosis hepatitis" EXACT [Orphanet:480524]
xref: Orphanet:480524 {source="MONDO:equivalentTo"}
is_a: MONDO:0002251 ! hepatitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: exactMatch Orphanet:480524

[Term]
id: MONDO:0018810
name: lethal hydranencephaly-diaphragmatic hernia syndrome
def: "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." [Orphanet:480528]
subset: ordo_malformation_syndrome {source="Orphanet:480528"}
xref: Orphanet:480528 {source="MONDO:equivalentTo"}
xref: UMLS:CN776878 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015216 {source="Orphanet:480528"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015880 {source="Orphanet:480528"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0017120 {source="Orphanet:480528"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:480528", source="Orphanet:480528/inferred"} ! genetic nervous system disorder
is_a: MONDO:0043009 {source="Orphanet:480528"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776878
property_value: exactMatch Orphanet:480528

[Term]
id: MONDO:0018811
name: congenital portosystemic shunt
def: "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours." [Orphanet:480531]
subset: ordo_morphological_anomaly {source="Orphanet:480531"}
synonym: "congenital portosystemic venous fistula" EXACT [Orphanet:480531]
xref: Orphanet:480531 {source="MONDO:equivalentTo"}
is_a: MONDO:0017710 {source="Orphanet:480531"} ! congenital systemic veins anomaly
property_value: exactMatch Orphanet:480531

[Term]
id: MONDO:0018812
name: MSH3-related attenuated familial adenomatous polyposis
subset: ordo_clinical_subtype {source="Orphanet:480536"}
synonym: "MSH3-related AFAP" EXACT [Orphanet:480536]
synonym: "MSH3-related attenuated familial polyposis coli" EXACT [Orphanet:480536]
synonym: "MSH3-related attenuated FAP" EXACT [Orphanet:480536]
xref: Orphanet:480536 {source="MONDO:equivalentTo"}
xref: UMLS:CN776886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="Orphanet:480536"} ! attenuated familial adenomatous polyposis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776886
property_value: exactMatch Orphanet:480536

[Term]
id: MONDO:0018813
name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
subset: ordo_disease {source="Orphanet:480541"}
xref: Orphanet:480541 {source="MONDO:equivalentTo"}
is_a: MONDO:0017595 {source="Orphanet:480541"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: exactMatch Orphanet:480541

[Term]
id: MONDO:0018814
name: non-severe combined immunodeficiency
subset: ordo_group_of_disorders {source="Orphanet:480549"}
synonym: "non-SCID" EXACT [Orphanet:480549]
xref: Orphanet:480549 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="MONDOLEX:0018814", source="Orphanet:480549"} ! congenital combined immunodeficiency
property_value: exactMatch Orphanet:480549

[Term]
id: MONDO:0018815
name: aneurysmal bone cyst (disease)
def: "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." [NCIT:C3516]
subset: ordo_disease {source="Orphanet:480553"}
synonym: "ABC" EXACT [NCIT:C3516]
synonym: "aneurysmal bone cyst" EXACT [MONDO:ambiguous]
synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516]
synonym: "aneurysmal cyst of the bone" EXACT [NCIT:C3516]
xref: COHD:74737 {source="MONDO:equivalentTo"}
xref: HP:0012063 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:733.22 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3516 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:480553 {source="MONDO:equivalentTo"}
xref: SCTID:203468000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0019060 {source="Orphanet:480553"} ! bone neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152244
property_value: exactMatch http://identifiers.org/snomedct/203468000
property_value: exactMatch NCIT:C3516
property_value: exactMatch Orphanet:480553

[Term]
id: MONDO:0018816
name: isolated neonatal sclerosing cholangitis
def: "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." [Orphanet:480556]
subset: ordo_disease {source="Orphanet:480556"}
synonym: "NSC" RELATED [OMIM:617394]
synonym: "sclerosing cholangitis, neonatal" RELATED [OMIM:617394]
synonym: "sclerosing cholangitis, neonatal; NSC" RELATED [OMIM:617394]
xref: OMIM:617394 {source="MONDO:equivalentTo"}
xref: Orphanet:480556 {source="MONDO:equivalentTo"}
xref: UMLS:C4479344 {source="MONDO:equivalentTo", source="OMIM:617394"}
is_a: MONDO:0015509 {source="Orphanet:480556"} ! genetic biliary tract disease
is_a: MONDO:0018646 {source="MONDOLEX:0018816", source="Orphanet:480556"} ! sclerosing cholangitis (disease)
property_value: exactMatch http://identifiers.org/omim/617394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479344
property_value: exactMatch Orphanet:480556

[Term]
id: MONDO:0018818
name: facial diplegia with paresthesias
subset: ordo_disease {source="Orphanet:480701"}
synonym: "facial diplegia with paresthesias variant of GBS" EXACT [Orphanet:480701]
synonym: "facial diplegia with paresthesias variant of Guillain-BarrC) syndrome" EXACT [Orphanet:480701]
synonym: "facial diplegia with paresthesias variant of Guillain-Barré syndrome" EXACT [Orphanet:480701]
xref: Orphanet:480701 {source="MONDO:equivalentTo"}
xref: UMLS:CN776915 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016494 {source="Orphanet:480701"} ! regional variant of Guillain-Barre syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776915
property_value: exactMatch Orphanet:480701

[Term]
id: MONDO:0018819
name: obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome
is_obsolete: true
replaced_by: MONDO:0009526

[Term]
id: MONDO:0018820
name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
def: "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." [Orphanet:480864]
subset: ordo_disease {source="Orphanet:480864"}
xref: Orphanet:480864 {source="MONDO:equivalentTo"}
xref: UMLS:CN776869 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:480864"} ! syndromic intellectual disability
is_a: MONDO:0015110 {source="Orphanet:480864"} ! genetic cardiac rhythm disease
is_a: MONDO:0016406 {source="Orphanet:480864"} ! other metabolic disease with epilepsy
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0024237 {source="Orphanet:480864"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776869
property_value: exactMatch Orphanet:480864

[Term]
id: MONDO:0018821
name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
subset: ordo_malformation_syndrome {source="Orphanet:480880"}
synonym: "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880]
synonym: "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880]
xref: Orphanet:480880 {source="MONDO:equivalentTo"}
xref: UMLS:CN776923 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:480880"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015329 {source="Orphanet:480880"} ! malformation syndrome with short stature
is_a: MONDO:0020119 {source="Orphanet:480880"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776923
property_value: exactMatch Orphanet:480880

[Term]
id: MONDO:0018822
name: global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
def: "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." [Orphanet:480898]
subset: ordo_disease {source="Orphanet:480898"}
xref: Orphanet:480898 {source="MONDO:equivalentTo"}
xref: UMLS:CN776946 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:480898", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0005328 {source="Orphanet:480898"} ! eye disease
is_a: MONDO:0015159 {source="Orphanet:480898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017118 {source="Orphanet:480898"} ! syndrome with a cerebellar malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776946
property_value: exactMatch Orphanet:480898

[Term]
id: MONDO:0018823
name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
subset: ordo_malformation_syndrome {source="Orphanet:480907"}
xref: Orphanet:480907 {source="MONDO:equivalentTo"}
xref: UMLS:CN776924 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:480907"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:480907"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776924
property_value: exactMatch Orphanet:480907

[Term]
id: MONDO:0018824
name: pyoderma gangrenosum
def: "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." [Orphanet:48104]
subset: gard_rare {source="GARD:0007510"}
subset: ordo_disease {source="Orphanet:48104"}
xref: COHD:133283 {source="MONDO:equivalentTo"}
xref: DOID:8553 {source="MONDO:equivalentTo"}
xref: EFO:0006835 {source="MONDO:equivalentTo"}
xref: GARD:0007510 {source="MONDO:equivalentTo"}
xref: ICD10:L88 {source="MONDO:equivalentTo", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"}
xref: ICD9:686.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:8553"}
xref: MedDRA:10037635 {source="ORDO:48104/e", source="Orphanet:48104"}
xref: MESH:D017511 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"}
xref: Orphanet:48104 {source="MONDO:equivalentTo"}
xref: SCTID:74578003 {source="MONDO:equivalentTo", source="DOID:8553", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085652 {source="MONDO:equivalentTo", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"}
is_a: MONDO:0002922 {source="DOID:8553", source="MESH:D017511", source="linkedlifedata"} ! pyoderma
is_a: MONDO:0017370 {source="Orphanet:48104"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:48104"} ! pyogenic autoinflammatory syndrome
property_value: exactMatch DOID:8553
property_value: exactMatch http://identifiers.org/meddra/10037635
property_value: exactMatch http://identifiers.org/mesh/D017511
property_value: exactMatch http://identifiers.org/snomedct/74578003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085652
property_value: exactMatch Orphanet:48104
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum xsd:anyURI {source="GARD:0007510"}

[Term]
id: MONDO:0018825
name: PYCR2-related microcephaly-progressive leukoencephalopathy
def: "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." [Orphanet:481152]
subset: ordo_malformation_syndrome {source="Orphanet:481152"}
xref: Orphanet:481152 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:481152", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:481152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017119 {source="Orphanet:481152"} ! syndrome with microcephaly as major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:481152

[Term]
id: MONDO:0018826
name: Lewis-Sumner syndrome
def: "Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." [Orphanet:48162]
subset: gard_rare {source="GARD:0013070"}
subset: ordo_clinical_subtype {source="Orphanet:48162"}
synonym: "MADSAM" EXACT [Orphanet:48162]
synonym: "multifocal acquired demyelinating sensory and motor neuropathy" EXACT [Orphanet:48162]
xref: GARD:0013070 {source="MONDO:equivalentTo"}
xref: ICD10:G61.8 {source="Orphanet:48162", source="ORDO:48162/ntbt"}
xref: MedDRA:10065580 {source="ORDO:48162/e", source="Orphanet:48162"}
xref: Orphanet:48162 {source="MONDO:equivalentTo"}
xref: UMLS:C1695985 {source="ORDO:48162/e", source="Orphanet:48162", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007691 {source="Orphanet:48162"} ! chronic inflammatory demyelinating polyneuropathy
property_value: exactMatch http://identifiers.org/meddra/10065580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1695985
property_value: exactMatch Orphanet:48162
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome xsd:anyURI {source="GARD:0013070"}

[Term]
id: MONDO:0018827
name: familial chilblain lupus
def: "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:481662"}
synonym: "hereditary Chilblain lupus" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary chilblain lupus" EXACT [MONDO:patterns/hereditary]
xref: OMIMPS:610448 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:481662 {source="MONDO:equivalentTo"}
xref: UMLS:CN776917 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002977 ! autoimmune disease of the nervous system
is_a: MONDO:0015939 {source="Orphanet:481662"} ! systemic autoimmune disease
is_a: MONDO:0018782 {source="Orphanet:481662"} ! type 1 interferonopathy
is_a: MONDO:0018792 {source="Orphanet:481662"} ! Moyamoya syndrome
is_a: MONDO:0019557 ! chilblain lupus
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0019557 ! chilblain lupus
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776917
property_value: exactMatch Orphanet:481662

[Term]
id: MONDO:0018828
name: UPS18 deficiency
subset: ordo_disease {source="Orphanet:481665"}
synonym: "pseudo-TORCH syndrome 2" RELATED [OMIM:617397]
synonym: "pseudo-TORCH syndrome 2; PTORCH2" RELATED [OMIM:617397]
synonym: "PTORCH2" RELATED [OMIM:617397]
synonym: "USP18 deficiency" RELATED [Orphanet:481665]
xref: OMIM:617397 {source="MONDO:equivalentTo", source="Orphanet:481665"}
xref: Orphanet:481665 {source="MONDO:equivalentTo", source="OMIM:617397"}
xref: UMLS:C4479376 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617397"}
is_a: MONDO:0009626 {source="OMIM:617397"} ! pseudo-TORCH syndrome
is_a: MONDO:0018782 {source="Orphanet:481665"} ! type 1 interferonopathy
property_value: exactMatch http://identifiers.org/omim/617397
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479376
property_value: exactMatch Orphanet:481665

[Term]
id: MONDO:0018829
name: familial schizencephaly
def: "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_etiological_subtype {source="Orphanet:481986"}
synonym: "familial schizencephaly" RELATED [GARD:0000166]
synonym: "hereditary schizencephaly" EXACT [MONDO:patterns/hereditary]
xref: GARD:0000166
xref: MESH:C538514 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:481986 {source="MONDO:equivalentTo"}
xref: UMLS:C2931870 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN776926 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:481986"} ! schizencephaly
is_a: MONDO:0018790 {source="Orphanet:481986"} ! COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
intersection_of: MONDO:0010011 ! schizencephaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C538514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931870
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776926
property_value: exactMatch Orphanet:481986

[Term]
id: MONDO:0018830
name: Kimura disease
def: "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." [Orphanet:482]
subset: gard_rare {source="GARD:0006835"}
subset: ordo_disease {source="Orphanet:482"}
synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED [GARD:0006835]
synonym: "eosinophilic granuloma of soft tissue" RELATED [GARD:0006835]
synonym: "eosinophilic hyperplastic lymphogranuloma" RELATED [GARD:0006835]
synonym: "eosinophilic lymphofollicular granuloma" RELATED [GARD:0006835]
synonym: "eosinophilic lymphofolliculosis" RELATED [GARD:0006835]
synonym: "eosinophilic lymphogranuloma" EXACT [Orphanet:482]
synonym: "Kimura's disease" EXACT [DOID:7365, NCIT:C26867]
xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"}
xref: EFO:1000722 {source="MONDO:equivalentTo"}
xref: GARD:0006835 {source="MONDO:equivalentTo"}
xref: ICD10:I89.8 {source="ORDO:482/ntbt", source="Orphanet:482"}
xref: MedDRA:10048640 {source="ORDO:482/e", source="Orphanet:482"}
xref: MESH:D000796 {source="MONDO:equivalentTo", source="ORDO:482/e", source="MONDO:ontobio", source="Orphanet:482", source="DOID:7365"}
xref: NCIT:C26867 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:7365"}
xref: Orphanet:482 {source="MONDO:equivalentTo"}
xref: UMLS:C0033838 {source="MONDO:equivalentTo", source="ORDO:482/e", source="NCIT:C26867", source="Orphanet:482", source="DOID:7365"}
xref: Wikipedia:Kimura's_disease {source="EFO:1000722"}
is_a: MONDO:0005093 {source="DOID:7365", source="EFO:1000722", source="MESH:D000796", source="MONDO:Redundant", source="indirect"} ! skin disease
is_a: MONDO:0015938 {source="Orphanet:482"} ! systemic disease
property_value: closeMatch http://identifiers.org/snomedct/254791004
property_value: closeMatch http://identifiers.org/snomedct/399894006
property_value: closeMatch http://identifiers.org/snomedct/69484003
property_value: exactMatch DOID:7365
property_value: exactMatch http://identifiers.org/meddra/10048640
property_value: exactMatch http://identifiers.org/mesh/D000796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033838
property_value: exactMatch NCIT:C26867
property_value: exactMatch Orphanet:482
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6835/kimura-disease xsd:anyURI {source="GARD:0006835"}

[Term]
id: MONDO:0018831
name: HTRA1-related cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:482072"}
synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072]
xref: Orphanet:482072 {source="MONDO:equivalentTo"}
xref: UMLS:CN776824 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018787 {source="Orphanet:482072"} ! genetic cerebral small vessel disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776824
property_value: exactMatch Orphanet:482072

[Term]
id: MONDO:0018832
name: HTRA1-related autosomal dominant cerebral small vessel disease
subset: ordo_disease {source="Orphanet:482077"}
synonym: "HTRA1-related autosomal dominant cerebral angiopathy" EXACT [Orphanet:482077]
xref: Orphanet:482077 {source="MONDO:equivalentTo"}
xref: UMLS:CN776823 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018831 {source="Orphanet:482077"} ! HTRA1-related cerebral small vessel disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776823
property_value: exactMatch Orphanet:482077

[Term]
id: MONDO:0018833
name: rare idiopathic macular telangiectasia
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:482092"}
xref: Orphanet:482092 {source="MONDO:equivalentTo"}
xref: UMLS:CN776863 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020676 {source="Orphanet:482092"} ! disease of central nervous system or retinal vasculature
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120", source="MONDO:0019110"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776863
property_value: exactMatch Orphanet:482092
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018834
name: adenylosuccinate synthetase-like 1-related distal myopathy
subset: ordo_disease {source="Orphanet:482601"}
synonym: "ADSSL1-related distal myopathy" EXACT [Orphanet:482601]
xref: Orphanet:482601 {source="MONDO:equivalentTo"}
is_a: MONDO:0016109 {source="Orphanet:482601"} ! autosomal recessive distal myopathy
property_value: exactMatch Orphanet:482601

[Term]
id: MONDO:0018835
name: nodular regenerative hyperplasia of the liver
def: "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." [Orphanet:48372]
subset: ordo_disease {source="Orphanet:48372"}
synonym: "miliary hepatocellular adenomatosis" RELATED [GARD:0010929]
synonym: "nodular regenerative hyperplasia" RELATED [GARD:0010929]
synonym: "non-cirrhotic nodular transformation" RELATED [GARD:0010929]
synonym: "non-cirrhotic nodulation" EXACT [Orphanet:48372]
synonym: "non-cirrhotic portal hypertension" RELATED [GARD:0010929]
xref: GARD:0010929 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K76.8 {source="Orphanet:48372", source="ORDO:48372/ntbt"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:48372 {source="MONDO:equivalentTo"}
xref: SCTID:715140008 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"}
xref: UMLS:CN205145 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
property_value: exactMatch http://identifiers.org/snomedct/715140008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205145
property_value: exactMatch Orphanet:48372

[Term]
id: MONDO:0018836
name: obsolete subcorneal pustular dermatosis
is_obsolete: true
replaced_by: MONDO:0006614

[Term]
id: MONDO:0018837
name: postinfectious vasculitis
def: "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." [Orphanet:48435]
subset: ordo_disease {source="Orphanet:48435"}
xref: ICD10:I77.6 {source="ORDO:48435/ntbt", source="Orphanet:48435"}
xref: Orphanet:48435 {source="MONDO:equivalentTo"}
xref: SCTID:724063005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510302 {source="MONDO:equivalentTo"}
is_a: MONDO:0018640 {source="Orphanet:48435"} ! secondary vasculitis
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/snomedct/724063005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510302
property_value: exactMatch Orphanet:48435

[Term]
id: MONDO:0018838
name: lissencephaly spectrum disorders
def: "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis." [Orphanet:48471]
comment: Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. {xref="PMID:28440899", xref="PMID:20331703"}
subset: ordo_group_of_disorders {source="Orphanet:48471"}
synonym: "Broad gyri of cerebrum" RELATED [GARD:0007300]
synonym: "large gyri of cerebrum" RELATED [GARD:0007300]
synonym: "lissencephaly" EXACT [MONDO:ambiguous]
synonym: "lissencephaly (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1312]
synonym: "macrogyria" RELATED [GARD:0007300]
synonym: "pachygyria" RELATED [GARD:0007300]
xref: DOID:0050453 {source="MONDO:equivalentTo"}
xref: GARD:0007300 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0012291 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0001339 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q04.3 {source="DOID:0050453", source="Orphanet:48471", source="ORDO:48471/ntbt", source="ORDO:48471/inclusion"}
xref: ICD10:Q04.8 {source="DOID:0050453"}
xref: MedDRA:10048911 {source="ORDO:48471/e", source="Orphanet:48471"}
xref: MESH:D054082 {source="ORDO:48471/e", source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="MONDO:ontobio"}
xref: NCIT:C103921 {source="DOID:0050453", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: OMIMPS:607432 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:48471 {source="MONDO:equivalentTo"}
xref: SCTID:204036008 {source="DOID:0050453", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0266463 {source="ORDO:48471/e", source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="NCIT:C103921"}
is_a: MONDO:0000508 {source="Orphanet:48471"} ! syndromic intellectual disability
is_a: MONDO:0015220 {source="Orphanet:48471"} ! syndrome with a central nervous system malformation as major feature
is_a: MONDO:0015655 {source="Orphanet:48471"} ! cerebral malformation with epilepsy
property_value: closeMatch http://identifiers.org/snomedct/23024003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266483
property_value: exactMatch DOID:0050453
property_value: exactMatch http://identifiers.org/meddra/10048911
property_value: exactMatch http://identifiers.org/mesh/D054082
property_value: exactMatch http://identifiers.org/snomedct/204036008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266463
property_value: exactMatch NCIT:C103921
property_value: exactMatch Orphanet:48471
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1312 xsd:string

[Term]
id: MONDO:0018839
name: acquired schizencephaly
def: "An instance of schizencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_etiological_subtype {source="Orphanet:485275"}
synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired]
xref: Orphanet:485275 {source="MONDO:equivalentTo"}
xref: UMLS:CN776925 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:485275"} ! schizencephaly
intersection_of: MONDO:0010011 ! schizencephaly
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776925
property_value: exactMatch Orphanet:485275

[Term]
id: MONDO:0018840
name: isolated congenital hepatic fibrosis
def: "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." [NCIT:C97071]
subset: gard_rare
subset: ordo_disease {source="Orphanet:485426"}
synonym: "congenital fibrose liver" RELATED [MESH:C562378]
synonym: "congenital hepatic fibrosis" EXACT [MESH:C562378, NCIT:C97071]
synonym: "isolated CHF" BROAD AMBIGUOUS [Orphanet:485426]
synonym: "nonsyndromic congenital hepatic fibrosis" EXACT [MONDO:patterns/isolated]
xref: GARD:0006168 {source="MONDO:equivalentTo"}
xref: ICD9:777.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562378 {source="MONDO:equivalentTo"}
xref: NCIT:C97071 {source="MONDO:equivalentTo"}
xref: Orphanet:485426 {source="MONDO:equivalentTo"}
xref: SCTID:79607001 {source="MONDO:equivalentTo"}
xref: UMLS:C0009714 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C97071", source="MONDO:equivalentTo"}
is_a: MONDO:0007329 ! cirrhosis, familial
is_a: MONDO:0015509 ! genetic biliary tract disease
property_value: exactMatch http://identifiers.org/mesh/C562378
property_value: exactMatch http://identifiers.org/snomedct/79607001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009714
property_value: exactMatch NCIT:C97071
property_value: exactMatch Orphanet:485426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis xsd:string {source="GARD:0006168"}

[Term]
id: MONDO:0018841
name: congenital bile acid synthesis defect
subset: ordo_group_of_disorders {source="Orphanet:485631"}
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT EXCLUDE [DOID:0050674]
synonym: "BASD" EXACT [Orphanet:485631]
synonym: "bile acid synthesis defect, congenital" EXACT [OMIMPS:607765]
synonym: "CBA" EXACT [DOID:0050674]
synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [DOID:0050674]
xref: DOID:0050674 {source="MONDO:equivalentTo"}
xref: EFO:0009039 {source="MONDO:equivalentTo"}
xref: ICD10:K76.8 {source="DOID:0050674"}
xref: OMIMPS:607765 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:485631 {source="MONDO:equivalentTo"}
xref: UMLS:CN239183 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005523 {source="DOID:0050674"} ! steroid inherited metabolic disorder
is_a: MONDO:0015581 {source="EFO:0009039", source="Orphanet:485631"} ! bile acid synthesis defect with cholestasis and malabsorption
property_value: exactMatch DOID:0050674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239183
property_value: exactMatch Orphanet:485631

[Term]
id: MONDO:0018842
name: primary effusion lymphoma
def: "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." [Orphanet:48686]
subset: gard_rare {source="GARD:0009247"}
subset: ordo_disease {source="Orphanet:48686"}
synonym: "AIDS-related lymphoma" RELATED [GARD:0009247]
synonym: "body cavity-based lymphoma" EXACT [NCIT:C6915, Orphanet:48686]
synonym: "PEL" EXACT [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686]
synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915]
xref: EFO:1000491 {source="MONDO:equivalentTo"}
xref: GARD:0009247 {source="MONDO:equivalentTo"}
xref: ICD10:C83.8 {source="ORDO:48686/ntbt", source="Orphanet:48686"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9678/3 {source="NCIT:C6915"}
xref: MedDRA:10065857 {source="ORDO:48686/e", source="Orphanet:48686"}
xref: MESH:D054685 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686"}
xref: NCIT:C6915 {source="EFO:1000491", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PEL {source="MONDO:equivalentTo"}
xref: Orphanet:48686 {source="MONDO:equivalentTo"}
xref: SCTID:713516007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1292753 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686", source="NCIT:C6915"}
is_a: MONDO:0015157 {source="Orphanet:48686"} ! human herpesvirus 8-related tumor
is_a: MONDO:0017343 {source="Orphanet:48686"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="NCIT:C6915"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://identifiers.org/meddra/10065857
property_value: exactMatch http://identifiers.org/mesh/D054685
property_value: exactMatch http://identifiers.org/snomedct/713516007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292753
property_value: exactMatch NCIT:C6915
property_value: exactMatch Orphanet:48686
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma xsd:anyURI {source="GARD:0009247"}

[Term]
id: MONDO:0018843
name: embryonal carcinoma of the central nervous system
def: "A embryonal carcinoma that involves the central nervous system." [MONDO:patterns/location]
subset: ordo_clinical_subtype {source="Orphanet:48736"}
synonym: "central nervous system embryonal carcinoma" EXACT [MONDO:0004154, MONDO:patterns/location, NCIT:C7010]
synonym: "embryonal carcinoma" RELATED [ONCOTREE:BEC]
synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010]
synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010]
synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736]
xref: DOID:7232 {source="MONDO:equivalentTo"}
xref: ICD10:C71.9 {source="Orphanet:48736", source="ORDO:48736/ntbt"}
xref: NCIT:C7010 {source="MONDO:equivalentTo", source="DOID:7232"}
xref: ONCOTREE:BEC {source="MONDO:equivalentTo"}
xref: Orphanet:48736 {source="MONDO:equivalentTo"}
xref: UMLS:C1333377 {source="NCIT:C7010", source="MONDO:equivalentTo", source="DOID:7232"}
is_a: MONDO:0002714 {source="DOID:7232/inferred", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system cancer
is_a: MONDO:0005440 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred", source="Orphanet:48736"} ! embryonal carcinoma
is_a: MONDO:0016738 {source="Orphanet:48736"} ! primary germ cell tumor of central nervous system
is_a: MONDO:0020574 ! central nervous system nongerminomatous germ cell tumor
property_value: exactMatch DOID:7232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333377
property_value: exactMatch NCIT:C7010
property_value: exactMatch Orphanet:48736

[Term]
id: MONDO:0018844
name: urachal cyst (disease)
def: "Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." [Orphanet:488]
subset: ordo_morphological_anomaly {source="Orphanet:488"}
synonym: "urachal cyst" EXACT [MONDO:ambiguous]
xref: GARD:0005425 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: HP:0012618 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.4 {source="Orphanet:488", source="ORDO:488/ntbt"}
xref: MedDRA:10065375 {source="Orphanet:488", source="ORDO:488/e"}
xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:488/e"}
xref: Orphanet:488 {source="MONDO:equivalentTo"}
xref: SCTID:17234001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0018565 {source="Orphanet:488"} ! congenital urachal anomaly
property_value: exactMatch http://identifiers.org/meddra/10065375
property_value: exactMatch http://identifiers.org/mesh/D014496
property_value: exactMatch http://identifiers.org/snomedct/17234001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041915
property_value: exactMatch Orphanet:488

[Term]
id: MONDO:0018845
name: focal myositis
def: "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." [Orphanet:48918]
subset: ordo_disease {source="Orphanet:48918"}
synonym: "focal nodular myositis" EXACT [Orphanet:48918]
synonym: "inflammatory pseudotumor of skeletal muscle" EXACT [Orphanet:48918]
xref: ICD10:M60.8 {source="ORDO:48918/ntbt", source="Orphanet:48918"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:48918 {source="MONDO:equivalentTo"}
xref: SCTID:240119009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.91"}
is_a: MONDO:0020122 {source="Orphanet:48918"} ! idiopathic inflammatory myopathy
property_value: exactMatch http://identifiers.org/snomedct/240119009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751357
property_value: exactMatch Orphanet:48918

[Term]
id: MONDO:0018846
name: penile agenesis
def: "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." [NCIT:C99009]
subset: ordo_morphological_anomaly {source="Orphanet:49"}
synonym: "agenesis of the penis" RELATED [GARD:0004272]
synonym: "Aphallia" EXACT [Orphanet:49]
synonym: "Aphallus" EXACT [NCIT:C99009]
synonym: "congenital absence of penis" EXACT [NCIT:C99009]
synonym: "micropenis" RELATED [GARD:0004272]
synonym: "penis agenesia" RELATED [GARD:0004272]
synonym: "penis agenesis" EXACT [Orphanet:49]
xref: GARD:0004272 {source="MONDO:equivalentTo"}
xref: ICD10:Q55.5 {source="Orphanet:49", source="ORDO:49/e"}
xref: MESH:C536649 {source="MONDO:equivalentTo", source="Orphanet:49", source="ORDO:49/e", source="MONDO:ontobio"}
xref: NCIT:C99009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:49 {source="MONDO:equivalentTo"}
xref: SCTID:59981001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015933 {source="Orphanet:49"} ! non-syndromic urogenital tract malformation of male
is_a: MONDO:0020040 {source="Orphanet:49"} ! 46,XY disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0555231
property_value: exactMatch http://identifiers.org/mesh/C536649
property_value: exactMatch http://identifiers.org/snomedct/59981001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1387005
property_value: exactMatch NCIT:C99009
property_value: exactMatch Orphanet:49

[Term]
id: MONDO:0018847
name: omphalomesenteric cyst
subset: gard_rare {source="GARD:0004081"}
subset: ordo_morphological_anomaly {source="Orphanet:490"}
xref: GARD:0004081 {source="MONDO:equivalentTo"}
xref: ICD10:Q43.0 {source="ORDO:490/ntbt", source="Orphanet:490"}
xref: Orphanet:490 {source="MONDO:equivalentTo"}
xref: SCTID:80880002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.13"}
is_a: MONDO:0015215 {source="Orphanet:490"} ! non-syndromic diaphragmatic or abdominal wall malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266180
property_value: exactMatch http://identifiers.org/snomedct/80880002
property_value: exactMatch Orphanet:490
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst xsd:anyURI {source="GARD:0004081"}

[Term]
id: MONDO:0018848
name: IgG4-related retroperitoneal fibrosis
def: "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." [Orphanet:49041]
comment: Editor note: TODO consider splitting out RF as separate term
subset: ordo_disease {source="Orphanet:49041"}
synonym: "idiopathic retroperitoneal fibrosis" EXACT [Orphanet:49041]
synonym: "Ormond disease" EXACT [Orphanet:49041]
synonym: "Ormond's disease" RELATED [GARD:0009568]
synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876]
xref: GARD:0009568 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N13.5 {source="Orphanet:49041", source="ORDO:49041/ntbt"}
xref: ICD9:593.4 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10038979 {source="ORDO:49041/e", source="Orphanet:49041"}
xref: MESH:D012185 {source="ORDO:49041/e", source="Orphanet:49041", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26876 {source="MONDO:equivalentTo"}
xref: Orphanet:49041 {source="MONDO:equivalentTo"}
xref: SCTID:197808006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0017287 {source="Orphanet:49041"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10038979
property_value: exactMatch http://identifiers.org/mesh/D012185
property_value: exactMatch http://identifiers.org/snomedct/197808006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035357
property_value: exactMatch NCIT:C26876
property_value: exactMatch Orphanet:49041

[Term]
id: MONDO:0018849
name: dentinogenesis imperfecta (disease)
def: "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." [Orphanet:49042]
subset: ordo_disease {source="Orphanet:49042"}
synonym: "dentinogenesis imperfecta" EXACT [MONDO:0002895, MONDO:ambiguous]
synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" EXACT [Orphanet:49042]
synonym: "DGI" EXACT [Orphanet:49042]
synonym: "DGI without OI" EXACT [Orphanet:49042]
synonym: "DI" EXACT [Orphanet:49042]
synonym: "non-syndromic dentinogenesis imperfecta" EXACT [Orphanet:49042]
synonym: "non-syndromic DGI" EXACT [Orphanet:49042]
synonym: "opalescent teeth without OI" EXACT [Orphanet:49042]
synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [Orphanet:49042]
xref: DOID:4154 {source="MONDO:equivalentTo"}
xref: GARD:0006258 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0000703 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:K00.5 {source="Orphanet:49042", source="ORDO:49042/inclusion", source="ORDO:49042/ntbt", source="DOID:4154"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10054013 {source="ORDO:49042/e", source="Orphanet:49042"}
xref: MESH:D003811 {source="ORDO:49042/e", source="Orphanet:49042", source="MONDO:equivalentTo", source="DOID:4154"}
xref: NCIT:C84667 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:4154"}
xref: Orphanet:49042 {source="MONDO:equivalentTo"}
xref: SCTID:196286005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.09", source="DOID:4154"}
xref: UMLS:C0011436 {source="NCIT:C84667", source="ORDO:49042/e", source="Orphanet:49042", source="MONDO:equivalentTo", source="DOID:4154"}
is_a: MONDO:0015668 {source="Orphanet:49042"} ! hereditary dentin defect
property_value: closeMatch http://identifiers.org/snomedct/367461002
property_value: closeMatch http://identifiers.org/snomedct/45742009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2973527
property_value: exactMatch DOID:4154
property_value: exactMatch http://identifiers.org/meddra/10054013
property_value: exactMatch http://identifiers.org/mesh/D003811
property_value: exactMatch http://identifiers.org/snomedct/196286005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011436
property_value: exactMatch NCIT:C84667
property_value: exactMatch Orphanet:49042

[Term]
id: MONDO:0018850
name: proliferating trichilemmal cyst
def: "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." [Orphanet:492]
subset: gard_rare {source="GARD:0004509"}
subset: ordo_disease {source="Orphanet:492"}
synonym: "Pilar cyst" EXACT [NCIT:C27125]
synonym: "Pilar tumor" EXACT [NCIT:C27125]
synonym: "proliferating pilar cyst" RELATED [GARD:0004509]
synonym: "proliferating pilar cystic tumor" RELATED [ONCOTREE:PPCT]
synonym: "proliferating Pilar tumor" EXACT [NCIT:C27125]
synonym: "proliferating trichilemmal tumor" EXACT [NCIT:C27125]
synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125]
xref: GARD:0004509 {source="MONDO:equivalentTo"}
xref: ICD10:L72.1 {source="ORDO:492/ntbt", source="Orphanet:492"}
xref: ICDO:8103/0 {source="NCIT:C27125"}
xref: ICDO:8103/1 {source="NCIT:C27125"}
xref: NCIT:C27125 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
xref: ONCOTREE:PPCT {source="MONDO:equivalentTo"}
xref: Orphanet:492 {source="MONDO:equivalentTo"}
xref: SCTID:254678009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.04"}
xref: UMLS:C0345992 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2959585 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003413 {source="NCIT:C43324/inferred"} ! hair follicle neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:492"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086809
property_value: exactMatch http://identifiers.org/snomedct/254678009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345992
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2959585
property_value: exactMatch NCIT:C27125
property_value: exactMatch Orphanet:492
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst xsd:anyURI {source="GARD:0004509"}

[Term]
id: MONDO:0018851
name: familial keratoacanthoma
def: "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." [Orphanet:493]
comment: Editor note: consider adding subtypes
subset: ordo_disease {source="Orphanet:493"}
synonym: "hereditary keratoacanthoma" EXACT [MONDO:patterns/hereditary, Orphanet:493]
synonym: "multiple keratoacanthoma" EXACT [Orphanet:493]
xref: ICD10:L85.8 {source="ORDO:493/attributed", source="ORDO:493/ntbt", source="Orphanet:493"}
xref: Orphanet:493 {source="MONDO:equivalentTo"}
xref: SCTID:716774008 {source="MONDO:kboom-pr-1.00/0.78/6.84", source="MONDO:equivalentTo"}
xref: UMLS:CN227546 {source="MONDO:equivalentTo"}
is_a: MONDO:0002527 {source="MONDO:Redundant", source="linkedlifedata"} ! keratoacanthoma
is_a: MONDO:0015950 {source="Orphanet:493", source="indirect"} ! inherited skin tumor
intersection_of: MONDO:0002527 ! keratoacanthoma
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0020173 {source="Orphanet:493"} ! benign tumor of palpebral epidermis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:493"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0546476
property_value: exactMatch http://identifiers.org/snomedct/716774008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227546
property_value: exactMatch Orphanet:493

[Term]
id: MONDO:0018852
name: achromatopsia
def: "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." [Orphanet:49382]
comment: Editor note: we include incomplete forms here, such as BCM
subset: clingen
subset: ordo_disease {source="Orphanet:49382"}
synonym: "ACHM" EXACT [DOID:13911, Orphanet:49382]
synonym: "complete or incomplete color blindness" EXACT [Orphanet:49382]
synonym: "monochromatism" EXACT [DOID:13911, MTHICD9_2006:368.54]
synonym: "Pingelapese blindness" EXACT [Orphanet:49382]
synonym: "Rod monochromacy" EXACT [Orphanet:49382]
synonym: "Rod monochromatism" EXACT [Orphanet:49382]
synonym: "total color blindness" EXACT [Orphanet:49382]
xref: DOID:13911 {source="MONDO:equivalentTo"}
xref: ICD10:H53.5 {source="Orphanet:49382", source="ORDO:49382/inclusion", source="ORDO:49382/ntbt"}
xref: ICD10:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"}
xref: ICD9:368.54 {source="DOID:13911"}
xref: MedDRA:10000454 {source="ORDO:49382/e", source="Orphanet:49382"}
xref: NCIT:C84528 {source="DOID:13911", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:49382 {source="DOID:13911", source="MONDO:equivalentTo"}
xref: SCTID:102450007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.77/2.51"}
xref: UMLS:C0152200 {source="ORDO:49382/e", source="DOID:13911", source="NCIT:C84528", source="Orphanet:49382", source="MONDO:equivalentTo"}
is_a: MONDO:0001703 {source="DOID:13911", source="MONDOLEX:0018852", source="Orphanet:49382", source="linkedlifedata", source="linkedlifedata/inferred"} ! color vision disorder
is_a: MONDO:0020208 {source="Orphanet:49382"} ! syndromic myopia
relationship: disease_has_feature MONDO:0001020 {source="Wikidata"} ! amblyopia (disease)
property_value: closeMatch http://identifiers.org/mesh/D003117
property_value: closeMatch http://identifiers.org/snomedct/56852002
property_value: exactMatch DOID:13911
property_value: exactMatch http://identifiers.org/meddra/10000454
property_value: exactMatch http://identifiers.org/snomedct/102450007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152200
property_value: exactMatch NCIT:C84528
property_value: exactMatch Orphanet:49382

[Term]
id: MONDO:0018853
name: transgrediens et progrediens palmoplantar keratoderma
subset: ordo_disease {source="Orphanet:495"}
synonym: "Greither disease" EXACT [Orphanet:495]
synonym: "keratosis extremitatum hereditaria progrediens" EXACT [Orphanet:495]
synonym: "keratosis palmoplantaris transgrediens et progrediens" EXACT [Orphanet:495]
synonym: "progressive diffuse palmoplantar keratoderma" EXACT [Orphanet:495]
synonym: "progressive diffuse PPK" EXACT [Orphanet:495]
synonym: "transgrediens et progrediens PPK" EXACT [Orphanet:495]
xref: ICD10:Q82.8 {source="ORDO:495/attributed", source="ORDO:495/ntbt", source="Orphanet:495"}
xref: Orphanet:495 {source="MONDO:equivalentTo"}
xref: UMLS:CN205162 {source="MONDO:equivalentTo"}
is_a: MONDO:0017851 ! erythrokeratodermia variabilis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851479
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205162
property_value: exactMatch Orphanet:495

[Term]
id: MONDO:0018854
name: acquired purpura fulminans
def: "Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." [Orphanet:49566]
subset: ordo_disease {source="Orphanet:49566"}
synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired]
xref: ICD10:D65 {source="ORDO:49566/ntbt", source="Orphanet:49566"}
xref: MedDRA:10037556 {source="ORDO:49566/e", source="Orphanet:49566"}
xref: Orphanet:49566 {source="MONDO:equivalentTo"}
xref: SCTID:725157006 {source="MONDO:equivalentTo"}
xref: UMLS:C4510896 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205163 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000809 ! purpura fulminans
is_a: MONDO:0016634 {source="Orphanet:49566"} ! thrombotic disorder due to an acquired coagulation factors defect
intersection_of: MONDO:0000809 ! purpura fulminans
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/meddra/10037556
property_value: exactMatch http://identifiers.org/mesh/D014884
property_value: exactMatch http://identifiers.org/mesh/D055665
property_value: exactMatch http://identifiers.org/snomedct/725157006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205163
property_value: exactMatch Orphanet:49566

[Term]
id: MONDO:0018855
name: keratosis pilaris atrophicans
def: "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." [https://www.dermnetnz.org/topics/keratosis-pilaris/]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:498"}
synonym: "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" RELATED [MESH:C537412]
synonym: "Atrophodermia reticulata" RELATED [MESH:C537412]
synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [MESH:C537412]
synonym: "Atrophodermia vermiculata" RELATED [MESH:C537412]
synonym: "burnett Schwartz Berberian syndrome" RELATED [MESH:C537412]
synonym: "folliculitis ulerythematosa" RELATED [MESH:C537412]
synonym: "folliculitis ulerythematosa reticulata" RELATED [MESH:C537412]
synonym: "honeycomb atrophy" RELATED [MESH:C537412]
synonym: "keratosis pilaris" RELATED [GARD:0001042, MESH:C537412, OMIM:604093]
synonym: "keratosis pilaris atrophicans facies" RELATED [GARD:0001042, MESH:C537412]
synonym: "keratosis pilaris atrophicans; KPA" RELATED [OMIM:604093]
synonym: "KPA" RELATED [OMIM:604093]
synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412]
synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412]
synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412]
xref: GARD:0001042 {source="MONDO:equivalentTo"}
xref: ICD10:L85.8 {source="ORDO:498/attributed", source="ORDO:498/ntbt", source="Orphanet:498"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537412 {source="MONDO:equivalentTo"}
xref: OMIM:604093 {source="MONDO:equivalentTo", source="GARD:0001042"}
xref: Orphanet:498 {source="MONDO:equivalentTo"}
xref: SCTID:400059005 {source="MONDO:kboom-pr-0.96/0.76/2.17", source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:498"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:498"} ! other genetic epidermal disease
is_a: MONDO:0021036 {source="MONDO:cjm", source="linkedlifedata"} ! keratosis pilaris
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263383
property_value: exactMatch http://identifiers.org/mesh/C537412
property_value: exactMatch http://identifiers.org/omim/604093
property_value: exactMatch http://identifiers.org/snomedct/400059005
property_value: exactMatch Orphanet:498
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome xsd:anyURI {source="GARD:0001042"}

[Term]
id: MONDO:0018856
name: lichen amyloidosis
def: "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." [Orphanet:49804]
subset: ordo_disease {source="Orphanet:49804"}
synonym: "amyloid lichen" EXACT [Orphanet:49804]
synonym: "lichen amyloidosus" EXACT [Orphanet:49804]
xref: ICD10:E85.4+ {source="Orphanet:49804", source="ORDO:49804/ntbt"}
xref: ICD10:L99.0* {source="Orphanet:49804", source="ORDO:49804/ntbt"}
xref: Orphanet:49804 {source="MONDO:equivalentTo"}
xref: SCTID:718105008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015301 {source="Orphanet:49804", source="linkedlifedata"} ! primary cutaneous amyloidosis
property_value: exactMatch http://identifiers.org/snomedct/718105008
property_value: exactMatch Orphanet:49804

[Term]
id: MONDO:0018857
name: creeping myiasis
subset: gard_rare {source="GARD:0001609"}
subset: ordo_disease {source="Orphanet:504"}
synonym: "migratory myiasis" EXACT [Orphanet:504]
xref: GARD:0001609 {source="MONDO:equivalentTo"}
xref: ICD10:B87.0 {source="MONDO:subClassOf", source="Orphanet:504", source="ORDO:504/ntbt"}
xref: MedDRA:10059547 {source="ORDO:504/e", source="Orphanet:504"}
xref: Orphanet:504 {source="MONDO:equivalentTo"}
xref: SCTID:417441005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1562462 {source="ORDO:504/e", source="Orphanet:504", source="MONDO:equivalentTo"}
is_a: MONDO:0020568 {source="Orphanet:504", source="linkedlifedata"} ! cutaneous myiasis
property_value: exactMatch http://identifiers.org/meddra/10059547
property_value: exactMatch http://identifiers.org/mesh/D007815
property_value: exactMatch http://identifiers.org/snomedct/417441005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0546999
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562462
property_value: exactMatch Orphanet:504
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis xsd:anyURI {source="GARD:0001609"}

[Term]
id: MONDO:0018858
name: Graham Little-Piccardi-Lassueur syndrome
def: "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." [Orphanet:505]
subset: gard_rare {source="GARD:0003195"}
subset: ordo_disease {source="Orphanet:505"}
synonym: "Graham Little syndrome" EXACT [Orphanet:505]
synonym: "Graham-Little-Piccardi-Lassueur syndrome" RELATED [GARD:0003195]
synonym: "Piccardi-Lassueur-Little syndrome" EXACT [Orphanet:505]
xref: GARD:0003195 {source="MONDO:equivalentTo"}
xref: ICD10:L66.1 {source="Orphanet:505", source="ORDO:505/attributed", source="ORDO:505/ntbt", source="MONDO:directSiblingOf"}
xref: Orphanet:505 {source="MONDO:equivalentTo"}
xref: SCTID:718215008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.03"}
xref: UMLS:CN205176 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:505"} ! alopecia
is_a: MONDO:0016767 {source="Orphanet:505"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/snomedct/718215008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205176
property_value: exactMatch Orphanet:505
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome xsd:anyURI {source="GARD:0003195"}

[Term]
id: MONDO:0018859
name: obsolete Leigh disease
is_obsolete: true
replaced_by: MONDO:0009723

[Term]
id: MONDO:0018860
name: microlissencephaly-micromelia syndrome
def: "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." [Orphanet:50810]
subset: ordo_malformation_syndrome {source="Orphanet:50810"}
synonym: "Basel-Vanagaite-Sirota syndrome" EXACT [Orphanet:50810]
xref: ICD10:Q04.3 {source="ORDO:50810/attributed", source="ORDO:50810/ntbt", source="Orphanet:50810"}
xref: Orphanet:50810 {source="MONDO:equivalentTo"}
xref: UMLS:CN205181 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:50810"} ! syndromic intellectual disability
is_a: MONDO:0015655 {source="Orphanet:50810"} ! cerebral malformation with epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205181
property_value: exactMatch Orphanet:50810

[Term]
id: MONDO:0018861
name: Zellweger-like syndrome without peroxisomal anomalies
def: "Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." [Orphanet:50812]
subset: ordo_disease {source="Orphanet:50812"}
synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812]
xref: ICD10:Q87.8 {source="ORDO:50812/attributed", source="ORDO:50812/ntbt", source="Orphanet:50812"}
xref: Orphanet:50812 {source="MONDO:equivalentTo"}
xref: SCTID:718880003 {source="MONDO:kboom-pr-0.76/0.38/0.63", source="MONDO:equivalentTo"}
xref: UMLS:C4305104 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr90-c94"}
xref: UMLS:CN205183 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015919 {source="Orphanet:50812"} ! syndromic neurometabolic disease with non-X-linked intellectual disability
is_a: MONDO:0016799 {source="Orphanet:50812"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism
relationship: disease_shares_features_of MONDO:0019609 ! Zellweger syndrome
property_value: exactMatch http://identifiers.org/snomedct/718880003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205183
property_value: exactMatch Orphanet:50812

[Term]
id: MONDO:0018862
name: obsolete cat-scratch disease
is_obsolete: true
replaced_by: MONDO:0005692

[Term]
id: MONDO:0018863
name: obsolete leptospirosis
is_obsolete: true
replaced_by: MONDO:0005825

[Term]
id: MONDO:0018864
name: Kikuchi-Fujimoto disease
def: "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." [Orphanet:50918]
subset: ordo_disease {source="Orphanet:50918"}
synonym: "histiocytic necrotising lymphadenitis" RELATED [GARD:0006834]
synonym: "histiocytic necrotizing lymphadenitis" EXACT [Orphanet:50918]
synonym: "Kikuchi disease" EXACT [Orphanet:50918]
synonym: "Kikuchi necrotizing lymphadenitis" RELATED [GARD:0006834]
synonym: "Kikuchi's disease" RELATED [GARD:0006834]
synonym: "Kikuchi-Fujimoto's disease" RELATED [GARD:0006834]
synonym: "nosocomial Kikuchi's disease" RELATED [GARD:0006834]
xref: GARD:0006834 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I88.1 {source="Orphanet:50918", source="ORDO:50918/ntbt"}
xref: MESH:D020042 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C71719 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:50918 {source="MONDO:equivalentTo"}
xref: SCTID:127217009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0398367 {source="Orphanet:50918", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C71719"}
is_a: MONDO:0002052 {source="MESH:D020042", source="NCIT:C71719"} ! lymphadenitis (disease)
is_a: MONDO:0015938 {source="Orphanet:50918"} ! systemic disease
property_value: exactMatch http://identifiers.org/mesh/D020042
property_value: exactMatch http://identifiers.org/snomedct/127217009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398367
property_value: exactMatch NCIT:C71719
property_value: exactMatch Orphanet:50918

[Term]
id: MONDO:0018865
name: striate palmoplantar keratoderma
def: "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." [Orphanet:50942]
subset: ordo_disease {source="Orphanet:50942"}
synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942]
synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942]
synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942]
xref: ICD10:Q82.8 {source="ORDO:50942/attributed", source="ORDO:50942/ntbt", source="Orphanet:50942"}
xref: Orphanet:50942 {source="MONDO:equivalentTo"}
xref: SCTID:764958008 {source="MONDO:equivalentTo"}
xref: UMLS:CN205191 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017673 {source="Orphanet:50942"} ! isolated focal palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/snomedct/764958008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205191
property_value: exactMatch Orphanet:50942

[Term]
id: MONDO:0018866
name: Aicardi-Goutieres syndrome
def: "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." [Orphanet:51]
subset: clingen
subset: gard_rare
subset: ordo_disease {source="Orphanet:51"}
synonym: "AGS" RELATED [GARD:0000575]
synonym: "Aicardi Goutieres syndrome" EXACT [GARD:0000575]
synonym: "Aicardi-Goutières syndrome" RELATED [Orphanet:51]
synonym: "Cree encephalitis" EXACT [DOID:0050629]
synonym: "Cree encephalitis" RELATED [GARD:0000575]
synonym: "encephalopathy with basal ganglia calcification" EXACT [Orphanet:51]
synonym: "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" EXACT [GARD:0000575, Orphanet:51]
synonym: "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis" RELATED [GARD:0000575]
synonym: "pseudotoxoplasmosis syndrome" RELATED [GARD:0000575]
xref: DOID:0050629 {source="MONDO:equivalentTo"}
xref: GARD:0000575 {source="MONDO:equivalentTo"}
xref: ICD10:G31.8 {source="DOID:0050629", source="ORDO:51/attributed", source="ORDO:51/ntbt", source="Orphanet:51"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535607 {source="MONDO:equivalentTo", source="ORDO:51/e", source="Orphanet:51"}
xref: OMIMPS:225750 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="GARD:0000575", source="MONDO:equivalentTo", source="DOID:0050629"}
xref: SCTID:230312006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0000508 {source="Orphanet:51"} ! syndromic intellectual disability
is_a: MONDO:0006025 {source="DOID:0050629", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity
is_a: MONDO:0015710 {source="Orphanet:51"} ! immune dysregulation disease with immunodeficiency
is_a: MONDO:0018782 {source="Orphanet:51"} ! type 1 interferonopathy
is_a: MONDO:0019046 {source="Orphanet:51", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:51"} ! Moyamoya syndrome
property_value: exactMatch DOID:0050629
property_value: exactMatch http://identifiers.org/mesh/C535607
property_value: exactMatch http://identifiers.org/snomedct/230312006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393591
property_value: exactMatch Orphanet:51

[Term]
id: MONDO:0018867
name: obsolete maple syrup urine disease
is_obsolete: true
replaced_by: MONDO:0009563

[Term]
id: MONDO:0018868
name: metachromatic leukodystrophy
def: "Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." [Orphanet:512]
subset: ordo_disease {source="Orphanet:512"}
synonym: "arylsulfatase A deficiency" EXACT [DOID:10581, Orphanet:512]
synonym: "deficiency of cerebroside-sulfatase" EXACT [DOID:10581]
synonym: "MLD" EXACT [DOID:10581, Orphanet:512]
synonym: "Scholz cerebral sclerosis" EXACT [DOID:10581]
synonym: "sulfatide lipoidosis" EXACT [CSP2005:1849-5593, DOID:10581]
xref: DOID:10581 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="Orphanet:512", source="ORDO:512/inclusion", source="ORDO:512/ntbt"}
xref: ICD10:E75.25 {source="DOID:10581"}
xref: ICD10:E75.29 {source="DOID:10581"}
xref: MedDRA:10067609 {source="Orphanet:512", source="ORDO:512/e"}
xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="DOID:10581", source="ORDO:512/e"}
xref: NCIT:C61251 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.78/1.35", source="DOID:10581"}
xref: Orphanet:512 {source="MONDO:equivalentTo", source="DOID:10581"}
xref: SCTID:66521008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.11"}
xref: UMLS:C0023522 {source="Orphanet:512", source="MONDO:equivalentTo", source="NCIT:C61251", source="DOID:10581", source="ORDO:512/e"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0016133 {source="Orphanet:512"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0018299 {source="Orphanet:512"} ! sphingolipidosis with epilepsy
is_a: MONDO:0019046 {source="NCIT:C61251", source="Orphanet:512", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019058 {source="Orphanet:512"} ! neurometabolic disease
is_a: MONDO:0020142 {source="Orphanet:512"} ! metabolic disease with dementia
is_a: MONDO:0020244 {source="Orphanet:512"} ! unclassified primitive or secondary maculopathy
property_value: closeMatch http://identifiers.org/snomedct/192784006
property_value: closeMatch http://identifiers.org/snomedct/3621006
property_value: closeMatch http://identifiers.org/snomedct/396338004
property_value: closeMatch http://identifiers.org/snomedct/44359008
property_value: exactMatch DOID:10581
property_value: exactMatch http://identifiers.org/meddra/10067609
property_value: exactMatch http://identifiers.org/mesh/C538597
property_value: exactMatch http://identifiers.org/mesh/D007966
property_value: exactMatch http://identifiers.org/snomedct/66521008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023522
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2713319
property_value: exactMatch NCIT:C61251
property_value: exactMatch Orphanet:512

[Term]
id: MONDO:0018869
name: cobblestone lissencephaly
def: "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." [Orphanet:51577]
subset: ordo_group_of_disorders {source="Orphanet:51577"}
synonym: "lissencephaly type 2" EXACT [Orphanet:51577]
xref: ICD10:Q04.3 {source="Orphanet:51577", source="ORDO:51577/inclusion", source="ORDO:51577/ntbt"}
xref: Orphanet:51577 {source="MONDO:equivalentTo"}
xref: SCTID:253149002 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="Orphanet:51577", source="linkedlifedata"} ! lissencephaly spectrum disorders
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431376
property_value: exactMatch http://identifiers.org/snomedct/253149002
property_value: exactMatch Orphanet:51577

[Term]
id: MONDO:0018870
name: arterial calcification of infancy
def: "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." [Orphanet:51608]
subset: ordo_disease {source="Orphanet:51608"}
synonym: "generalized arterial calcification in infancy" RELATED [GARD:0008380]
synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644]
synonym: "idiopathic infantile arterial calcification" EXACT [DOID:0050644, Orphanet:51608]
synonym: "idiopathic obliterative arteriopathy" EXACT [Orphanet:51608]
synonym: "IIAC" RELATED [GARD:0008380]
synonym: "infantile arteriosclerosis" EXACT [DOID:0050644, Orphanet:51608]
synonym: "occlusive infantile arteriopathy" EXACT [Orphanet:51608]
xref: DOID:0050644 {source="MONDO:equivalentTo"}
xref: GARD:0008380 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q28.8 {source="ORDO:51608/ntbt", source="ORDO:51608/index", source="Orphanet:51608"}
xref: MESH:C537440 {source="MONDO:equivalentTo", source="ORDO:51608/e", source="Orphanet:51608"}
xref: OMIMPS:208000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:51608 {source="MONDO:equivalentTo", source="DOID:0050644"}
is_a: MONDO:0005385 {source="Orphanet:51608"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: exactMatch DOID:0050644
property_value: exactMatch http://identifiers.org/mesh/C537440
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264955
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859727
property_value: exactMatch Orphanet:51608

[Term]
id: MONDO:0018871
name: acute myelomonocytic leukemia M4
def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" [NCIT:C7463]
subset: gard_rare
subset: ordo_disease {source="Orphanet:517"}
synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463]
synonym: "acute myeloblastic leukemia type 4" RELATED [GARD:0000529]
synonym: "acute myelomonocytic leukemia" EXACT [NCIT:C7463]
synonym: "acute myelomonocytic leukemia (FAB type M4)" EXACT [NCIT:C7463]
synonym: "AML M4" EXACT [GARD:0000529, Orphanet:517]
synonym: "AML-M4" RELATED [GARD:0000529]
synonym: "AMML" EXACT [NCIT:C7463]
synonym: "AMMoL" EXACT [GARD:0000529, Orphanet:517]
xref: EFO:0000223 {source="MONDO:equivalentTo"}
xref: GARD:0000529 {source="MONDO:equivalentTo"}
xref: ICD10:C92.5 {source="ORDO:517/e", source="Orphanet:517"}
xref: ICDO:9867/3 {source="NCIT:C7463"}
xref: MedDRA:10000890 {source="ORDO:517/e", source="Orphanet:517"}
xref: NCIT:C7463 {source="MONDO:equivalentTo", source="EFO:0000223"}
xref: ONCOTREE:AMML {source="MONDO:equivalentTo"}
xref: Orphanet:517 {source="MONDO:equivalentTo", source="GARD:0000529"}
xref: SCTID:110005000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C0023479 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7463", source="ORDO:517/e", source="MONDO:equivalentTo", source="Orphanet:517"}
is_a: MONDO:0011118 {source="EFO:0000223"} ! bilineal acute myeloid leukemia
property_value: closeMatch http://identifiers.org/snomedct/30962008
property_value: exactMatch http://identifiers.org/meddra/10000890
property_value: exactMatch http://identifiers.org/mesh/D015479
property_value: exactMatch http://identifiers.org/snomedct/110005000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023479
property_value: exactMatch NCIT:C7463
property_value: exactMatch Orphanet:517
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia xsd:anyURI {source="GARD:0000529"}

[Term]
id: MONDO:0018872
name: acute megakaryoblastic leukemia
def: "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML; see this term) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis (see this term)may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." [Orphanet:518]
subset: gard_rare {source="GARD:0000524"}
subset: ordo_disease {source="Orphanet:518"}
synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170]
synonym: "acute megakaryoblastic leukaemia" EXACT [MONDO:0005222]
synonym: "acute megakaryoblastic leukaemia, FAB M7" EXACT [DOID:8761]
synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, NCIT:C3170]
synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [DOID:8761, NCIT:C3170]
synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [DOID:8761]
synonym: "acute megakaryocytic leukemia" EXACT [NCIT:C3170, Orphanet:518]
synonym: "acute megakaryocytic leukemias" EXACT [DOID:8761, MTH:NOCODE]
synonym: "acute myeloblastic leukemia type 7" RELATED [GARD:0000524]
synonym: "acute myeloid leukemia M7" EXACT [Orphanet:518]
synonym: "AMKL" EXACT [NCIT:C3170, Orphanet:518]
synonym: "AML M7" EXACT [Orphanet:518]
synonym: "FAB M7" EXACT [NCIT:C3170]
synonym: "leukemia, megakaryocytic, malignant" EXACT [NCIT:C3170]
synonym: "megakaryocytic leukemia" RELATED [DOID:8761]
synonym: "megakaryocytic myelosis" EXACT [DOID:8761, MTHICD9_2006:207.2]
synonym: "thrombocytic leukaemia" EXACT [DOID:8761]
xref: DOID:8761 {source="MONDO:equivalentTo"}
xref: EFO:0003025 {source="MONDO:equivalentTo"}
xref: GARD:0000524 {source="MONDO:equivalentTo"}
xref: ICD10:C94.2 {source="ORDO:518/ntbt", source="Orphanet:518", source="DOID:8761"}
xref: ICD10:C94.20 {source="DOID:8761"}
xref: ICD9:207.2 {source="DOID:8761"}
xref: ICDO:9910/3 {source="NCIT:C3170"}
xref: MedDRA:C0023462 {source="EFO:0003025"}
xref: MESH:D007947 {source="MONDO:equivalentTo", source="DOID:8761"}
xref: NCIT:C3170 {source="EFO:0003025", source="MONDO:equivalentTo", source="DOID:8761"}
xref: ONCOTREE:AMKL {source="MONDO:equivalentTo"}
xref: Orphanet:518 {source="MONDO:equivalentTo"}
xref: SCTID:277602003 {source="EFO:0003025", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:8761"}
xref: UMLS:C0023462 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:518", source="DOID:8761", source="NCIT:C3170"}
xref: Wikipedia:Acute_megakaryoblastic_leukemia {source="EFO:0003025"}
is_a: MONDO:0011118 {source="EFO:0003025"} ! bilineal acute myeloid leukemia
is_a: MONDO:0015667 {source="Orphanet:518"} ! unclassified acute myeloid leukemia
property_value: closeMatch http://identifiers.org/meddra/C0023462
property_value: closeMatch http://identifiers.org/snomedct/188754005
property_value: closeMatch http://identifiers.org/snomedct/190065009
property_value: closeMatch http://identifiers.org/snomedct/190067001
property_value: closeMatch http://identifiers.org/snomedct/52220008
property_value: closeMatch http://identifiers.org/snomedct/94149003
property_value: exactMatch DOID:8761
property_value: exactMatch http://identifiers.org/mesh/D007947
property_value: exactMatch http://identifiers.org/snomedct/277602003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023462
property_value: exactMatch NCIT:C3170
property_value: exactMatch Orphanet:518
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia xsd:anyURI {source="GARD:0000524"}

[Term]
id: MONDO:0018873
name: anterior cutaneous nerve entrapment syndrome
def: "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." [Orphanet:51890]
subset: ordo_disease {source="Orphanet:51890"}
synonym: "ACNES" EXACT [Orphanet:51890]
synonym: "intercostal nerve syndrome" EXACT [Orphanet:51890]
synonym: "rectus abdominis syndrome" EXACT [Orphanet:51890]
xref: ICD10:G58.0 {source="Orphanet:51890"}
xref: Orphanet:51890 {source="MONDO:equivalentTo", source="UMLS:CN776944"}
xref: UMLS:CN776944 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:51890"} ! acquired peripheral neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776944
property_value: exactMatch Orphanet:51890

[Term]
id: MONDO:0018874
name: acute myeloid leukemia
def: "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." [Orphanet:519]
subset: gard_rare {source="GARD:0012757"}
subset: ordo_group_of_disorders {source="Orphanet:519"}
synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute myeloblastic leukemia" EXACT [DOID:9119, NCIT:C3171]
synonym: "acute myelocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute myelogenous leukemia" EXACT [DOID:9119, NCIT:C3171, Orphanet:519]
synonym: "acute myelogenous leukemias" EXACT [NCIT:C3171]
synonym: "acute myeloid leukemia" EXACT [NCIT:C3171]
synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C3171]
synonym: "acute non lymphoblastic leukemia" RELATED [GARD:0000537]
synonym: "acute Nonlymphocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute nonlymphocytic leukemia" EXACT [NCIT:C3171]
synonym: "AML" EXACT [MONDO:Lexical, NCIT:C3171, OMIM:601626, Orphanet:519]
synonym: "AML - acute myeloid leukemia" EXACT [DOID:9119, NCIT:C3171]
synonym: "ANLL" EXACT [NCIT:C3171]
synonym: "hematopoeitic - acute Myleogenous leukemia (AML)" EXACT [NCIT:C3171]
synonym: "leukemia, acute myelogenous" RELATED [OMIM:601626]
synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical, OMIM:601626]
synonym: "leukemia, acute myeloid, susceptibility to" RELATED [OMIM:601626]
synonym: "leukemia, acute myeloid; AML" RELATED [OMIM:601626]
synonym: "leukemia, myelocytic, acute" EXACT [DOID:9119, MTH:NOCODE]
synonym: "myeloid leukemia, acute" EXACT [MONDO:patterns/acute]
xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"}
xref: EFO:0000222 {source="MONDO:equivalentTo"}
xref: GARD:0000537 {source="MONDO:equivalentTo"}
xref: GARD:0012757 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="DOID:9119", source="ORDO:519/e", source="Orphanet:519"}
xref: ICD10:C92.00 {source="DOID:9119"}
xref: ICD9:205.0 {source="DOID:9119", source="EFO:0000222"}
xref: ICD9:205.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9861/3 {source="NCIT:C3171"}
xref: KEGG:05221 {source="DOID:9119", source="MONDO:equivalentTo"}
xref: MedDRA:10000880 {source="ORDO:519/e", source="Orphanet:519"}
xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"}
xref: NCIT:C3171 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo"}
xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"}
xref: ONCOTREE:AML {source="MONDO:equivalentTo"}
xref: Orphanet:519 {source="MONDO:equivalentTo"}
xref: SCTID:91861009 {source="DOID:9119", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.79"}
xref: UMLS:C0023467 {source="NCIT:C3171", source="DOID:9119", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519", source="GARD:0000537", source="OMIM:601626"}
is_a: MONDO:0004643 {source="DOID:9119", source="MESH:D015470", source="MONDO:Redundant", source="MONDOLEX:0018874", source="NCIT:C3171", source="linkedlifedata"} ! myeloid leukemia
is_a: MONDO:0020683 ! acute disease
relationship: disease_has_feature MONDO:0002280 {source="Wikidata"} ! anemia (disease)
property_value: closeMatch http://identifiers.org/snomedct/154591002
property_value: closeMatch http://identifiers.org/snomedct/17788007
property_value: closeMatch http://identifiers.org/snomedct/277600006
property_value: closeMatch http://identifiers.org/snomedct/413443009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275959
property_value: exactMatch DOID:9119
property_value: exactMatch http://identifiers.org/meddra/10000880
property_value: exactMatch http://identifiers.org/mesh/D015470
property_value: exactMatch http://identifiers.org/omim/601626
property_value: exactMatch http://identifiers.org/snomedct/91861009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023467
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1879321
property_value: exactMatch NCIT:C3171
property_value: exactMatch Orphanet:519
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia xsd:anyURI {source="GARD:0012757"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia xsd:anyURI {source="GARD:0000537"}

[Term]
id: MONDO:0018875
name: Li-Fraumeni syndrome
def: "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term)." [Orphanet:524]
subset: ordo_disease {source="Orphanet:524"}
synonym: "Li Fraumeni syndrome" RELATED [GARD:0006902]
synonym: "Li-Fraumeni familial cancer susceptibility syndrome" EXACT [NCIT:C3476]
synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012, NCIT:C3476]
synonym: "Li-Fraumeni syndrome" EXACT [NCIT:C3476]
synonym: "sarcoma family syndrome of Li and Fraumeni" RELATED [GARD:0006902]
synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT [DOID:3012]
synonym: "SBLA syndrome" EXACT [DOID:3012]
synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902]
xref: DOID:3012 {source="MONDO:equivalentTo"}
xref: GARD:0006902 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D48.9 {source="Orphanet:524", source="ORDO:524/attributed", source="ORDO:524/ntbt"}
xref: ICD9:V84.01 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066795 {source="ORDO:524/e", source="Orphanet:524"}
xref: MESH:D016864 {source="DOID:3012", source="ORDO:524/e", source="Orphanet:524", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3476 {source="DOID:3012", source="MONDO:equivalentTo", source="exact-label-match"}
xref: OMIMPS:151623 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:524 {source="DOID:3012", source="MONDO:equivalentTo"}
xref: SCTID:428850001 {source="DOID:3012", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0085390 {source="DOID:3012", source="ORDO:524/e", source="Orphanet:524", source="MONDO:equivalentTo", source="NCIT:C3476"}
is_a: MONDO:0000426 {source="DOID:3012", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D016864", source="NCIT:C3476", source="Orphanet:524", source="linkedlifedata"} ! hereditary neoplastic syndrome
is_a: MONDO:0016756 {source="Orphanet:524"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0017820 {source="Orphanet:524"} ! disease with Cushing syndrome as a major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:3012
property_value: exactMatch http://identifiers.org/meddra/10066795
property_value: exactMatch http://identifiers.org/mesh/D016864
property_value: exactMatch http://identifiers.org/snomedct/428850001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085390
property_value: exactMatch NCIT:C3476
property_value: exactMatch Orphanet:524

[Term]
id: MONDO:0018876
name: mantle cell lymphoma
def: "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." [Orphanet:52416]
subset: ordo_disease {source="Orphanet:52416"}
synonym: "classical mantle cell lymphoma" EXACT [NCIT:C4337]
synonym: "LCM" EXACT [Orphanet:52416]
synonym: "lymphoma, mantle cell" RELATED [GARD:0006969]
synonym: "mantle cell lymphoma" EXACT [NCIT:C4337]
synonym: "mantle zone lymphoma" EXACT [NCIT:C4337, Orphanet:52416]
synonym: "MCL" EXACT [NCIT:C4337, Orphanet:52416]
xref: COHD:40481901 {source="MONDO:equivalentTo"}
xref: DOID:0050746 {source="MONDO:equivalentTo"}
xref: EFO:1001469 {source="MONDO:equivalentTo"}
xref: GARD:0006969 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C83.1 {source="ORDO:52416/e", source="Orphanet:52416"}
xref: ICD9:200.40 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9673/3 {source="NCIT:C4337"}
xref: MedDRA:10061275 {source="ORDO:52416/e", source="Orphanet:52416"}
xref: MESH:D020522 {source="ORDO:52416/e", source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416", source="MONDO:ontobio"}
xref: NCIT:C4337 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:MCL {source="MONDO:equivalentTo"}
xref: Orphanet:52416 {source="MONDO:equivalentTo"}
xref: SCTID:443487006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0017595 {source="Orphanet:52416"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334634
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0555202
property_value: exactMatch DOID:0050746
property_value: exactMatch http://identifiers.org/meddra/10061275
property_value: exactMatch http://identifiers.org/mesh/D020522
property_value: exactMatch http://identifiers.org/snomedct/443487006
property_value: exactMatch NCIT:C4337
property_value: exactMatch Orphanet:52416

[Term]
id: MONDO:0018877
name: retinitis punctata albescens
subset: ordo_disease {source="Orphanet:52427"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:52427/index", source="ORDO:52427/ntbt", source="Orphanet:52427"}
xref: Orphanet:52427 {source="MONDO:equivalentTo"}
xref: SCTID:715562001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.77/1.22"}
xref: UMLS:CN205224 {source="MONDO:equivalentTo"}
is_a: MONDO:0007639 ! fundus albipunctatus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311338
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1405854
property_value: exactMatch http://identifiers.org/snomedct/715562001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205224
property_value: exactMatch Orphanet:52427

[Term]
id: MONDO:0018878
name: branchiootic syndrome
def: "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." [Orphanet:52429]
subset: ordo_malformation_syndrome {source="Orphanet:52429"}
synonym: "bo syndrome" EXACT [DOID:0060232]
synonym: "bor" EXACT [DOID:0060232]
synonym: "branchiootic dysplasia" EXACT [DOID:0060232]
xref: DOID:0060232 {source="MONDO:equivalentTo"}
xref: GARD:0010148 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="DOID:0060232", source="ORDO:52429/attributed", source="ORDO:52429/ntbt", source="Orphanet:52429"}
xref: Orphanet:52429 {source="DOID:0060232", source="MONDO:equivalentTo"}
xref: SCTID:764810000 {source="MONDO:equivalentTo"}
xref: UMLS:CN205225 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="Orphanet:52429"} ! syndromic genetic deafness
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:52429"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:0060232
property_value: exactMatch http://identifiers.org/snomedct/764810000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205225
property_value: exactMatch Orphanet:52429

[Term]
id: MONDO:0018879
name: lichen planopilaris
def: "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus (see this term) which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." [Orphanet:525]
subset: ordo_disease {source="Orphanet:525"}
synonym: "follicular lichen planus" EXACT [Orphanet:525]
synonym: "frontal fibrosing alopecia (subtype)" RELATED [GARD:0003247]
synonym: "Kossard disease" RELATED [GARD:0003247]
synonym: "lichen follicularis" EXACT [Orphanet:525]
synonym: "lichen planopilaris classic type" RELATED [GARD:0003247]
synonym: "lichen planus follicularis" EXACT [Orphanet:525]
synonym: "Lpp" EXACT [Orphanet:525]
xref: COHD:4276173 {source="MONDO:equivalentTo"}
xref: GARD:0003247 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L66.1 {source="ORDO:525/e", source="Orphanet:525", source="MONDO:equivalentTo"}
xref: MESH:C535892 {source="ORDO:525/e", source="Orphanet:525", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:525 {source="MONDO:equivalentTo"}
xref: SCTID:64540004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37"}
xref: UMLS:C0023645 {source="ORDO:525/e", source="MEDGEN:kboom-pr97-c99", source="Orphanet:525", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:525"} ! alopecia
is_a: MONDO:0016767 {source="Orphanet:525"} ! cutaneous lichen planus
property_value: exactMatch http://identifiers.org/mesh/C535892
property_value: exactMatch http://identifiers.org/snomedct/64540004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023645
property_value: exactMatch Orphanet:525

[Term]
id: MONDO:0018880
name: rare teratologic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:52662"}
synonym: "acquired embryofetopathy" EXACT [Orphanet:52662]
xref: Orphanet:52662 {source="MONDO:equivalentTo"}
xref: UMLS:CN205231 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019755 {source="Orphanet:52662"} ! developmental defect during embryogenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205231
property_value: exactMatch Orphanet:52662
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018881
name: myelodysplastic syndrome
def: "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" [NCIT:C3247]
subset: ordo_group_of_disorders {source="Orphanet:52688"}
synonym: "dysmyelopoietic syndrome" EXACT [NCIT:C3247]
synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [NCIT:C3247]
synonym: "MDS" EXACT [NCIT:C3247]
synonym: "MDS" RELATED [MONDO:Lexical, OMIM:614286]
synonym: "myelodysplasia" EXACT [NCIT:C3247]
synonym: "myelodysplastic neoplasm" EXACT [NCIT:C3247]
synonym: "myelodysplastic syndrome" EXACT [MONDO:0013667, MONDO:Lexical, NCIT:C3247, OMIM:614286]
synonym: "myelodysplastic syndrome, NOS" RELATED EXCLUDE [NCIT:C3247]
synonym: "myelodysplastic syndrome, susceptibility to" RELATED [OMIM:614286]
synonym: "myelodysplastic syndrome/neoplasm" EXACT [NCIT:C3247]
synonym: "myelodysplastic syndrome; MDS" RELATED [OMIM:614286]
synonym: "myelodysplastic syndromes" EXACT [NCIT:C3247]
synonym: "oligoblastic leukemia" EXACT [NCIT:C3247]
synonym: "preleukemia" EXACT [NCIT:C3247]
synonym: "smoldering leukemia" EXACT [NCIT:C3247]
xref: COHD:138994 {source="MONDO:equivalentTo"}
xref: DOID:0050908 {source="EFO:0000198", source="MONDO:equivalentTo"}
xref: EFO:0000198 {source="MONDO:equivalentTo"}
xref: GARD:0007132 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD9:238.7 {source="DOID:0050908"}
xref: ICD9:238.75 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9989/3 {source="NCIT:C3247"}
xref: MedDRA:10028532 {source="ORDO:52688/e", source="Orphanet:52688"}
xref: NCIT:C3247 {source="EFO:0000198", source="MONDO:equivalentTo"}
xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="ORDO:52688/e", source="Orphanet:52688", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: ONCOTREE:MDS {source="MONDO:equivalentTo"}
xref: Orphanet:52688 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:614286"}
xref: SCTID:109995007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08"}
xref: UMLS:C0033027 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C3463824 {source="Orphanet:52688", source="MONDO:equivalentTo", source="NCIT:C3247", source="OMIM:614286"}
is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:52688", source="indirect"} ! myeloid hemopathy
is_a: MONDO:0021058 {source="NCIT:C3247"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0005170 {source="EFO:0000198", source="MONDO:Redundant", source="NCIT:C3247", source="ONCOTREE:MDS/inferred"} ! myeloid neoplasm
relationship: disease_has_feature MONDO:0021138 {source="NCIT:C3247"} ! bone marrow cancer
property_value: closeMatch http://identifiers.org/mesh/D011289
property_value: closeMatch http://identifiers.org/snomedct/128623006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026986
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713368
property_value: exactMatch DOID:0050908
property_value: exactMatch http://identifiers.org/meddra/10028532
property_value: exactMatch http://identifiers.org/mesh/D009190
property_value: exactMatch http://identifiers.org/omim/614286
property_value: exactMatch http://identifiers.org/snomedct/109995007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3463824
property_value: exactMatch NCIT:C3247
property_value: exactMatch Orphanet:52688

[Term]
id: MONDO:0018882
name: vasculitis
def: "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease, see this term) to relatively minor skin disease." [Orphanet:52759]
subset: ordo_group_of_disorders {source="Orphanet:52759"}
synonym: "angiitis" RELATED [DOID:865]
synonym: "systemic vasculitis" NARROW [Orphanet:52759]
xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"}
xref: EFO:0006803 {source="MONDO:equivalentTo"}
xref: GARD:0009565 {source="MONDO:equivalentTo"}
xref: MedDRA:10036023 {source="ORDO:52759/e", source="Orphanet:52759"}
xref: MedDRA:10047115 {source="ORDO:52759/e", source="Orphanet:52759"}
xref: MESH:D014657 {source="DOID:865", source="MONDO:equivalentTo", source="ORDO:52759/e", source="EFO:0006803", source="Orphanet:52759"}
xref: NCIT:C26912 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="exact-label-match"}
xref: Orphanet:52759 {source="MONDO:equivalentTo"}
xref: SCTID:31996006 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803"}
xref: UMLS:C0042384 {source="DOID:865", source="MONDO:equivalentTo", source="ORDO:52759/e", source="Orphanet:52759", source="NCIT:C26912"}
xref: Wikipedia:Vasculitis {source="EFO:0006803"}
is_a: MONDO:0005385 {source="Orphanet:52759"} ! vascular disease
is_a: MONDO:0020012 {source="Orphanet:52759"} ! systemic or rheumatic disease
is_a: MONDO:0021166 ! inflammatory disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019048"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/195375002
property_value: closeMatch http://identifiers.org/snomedct/266325003
property_value: closeMatch http://identifiers.org/snomedct/393589007
property_value: exactMatch DOID:865
property_value: exactMatch http://identifiers.org/meddra/10036023
property_value: exactMatch http://identifiers.org/meddra/10047115
property_value: exactMatch http://identifiers.org/mesh/D014657
property_value: exactMatch http://identifiers.org/mesh/D056647
property_value: exactMatch http://identifiers.org/snomedct/31996006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264939
property_value: exactMatch NCIT:C26912
property_value: exactMatch Orphanet:52759

[Term]
id: MONDO:0018883
name: Berardinelli-Seip congenital lipodystrophy
def: "Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms)." [Orphanet:528]
subset: ordo_disease {source="Orphanet:528"}
synonym: "Beradinelli-Seip syndrome" EXACT [Orphanet:528]
synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594]
synonym: "Berardinelli Seip syndrome" EXACT [NCIT:C84594]
synonym: "Brunzell syndrome" EXACT [Orphanet:528]
synonym: "BSCL" EXACT [Orphanet:528]
synonym: "congenital Generalized lipodystrophy" EXACT [NCIT:C84594]
synonym: "GCL" EXACT [Orphanet:528]
synonym: "generalized congenital lipodystrophy" EXACT [Orphanet:528]
synonym: "Lawrence-Seip syndrome" EXACT [NCIT:C84594]
synonym: "lipoatrophic diabetes" EXACT [Orphanet:528]
synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594]
synonym: "total lipodystrophy" EXACT [NCIT:C84594]
xref: ICD10:E88.1 {source="ORDO:528/attributed", source="ORDO:528/ntbt", source="Orphanet:528"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10024603 {source="ORDO:528/e", source="Orphanet:528"}
xref: NCIT:C84594 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20"}
xref: Orphanet:528 {source="MONDO:equivalentTo"}
xref: SCTID:127012008 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015333 {source="Orphanet:528"} ! progeroid syndrome
is_a: MONDO:0015885 {source="Orphanet:528"} ! rare insulin-resistance syndrome
is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:528"} ! genetic lipodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221032
property_value: exactMatch http://identifiers.org/meddra/10024603
property_value: exactMatch http://identifiers.org/snomedct/127012008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011859
property_value: exactMatch NCIT:C84594
property_value: exactMatch Orphanet:528

[Term]
id: MONDO:0018884
name: Roch-Leri mesosomatous lipomatosis
def: "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." [Orphanet:529]
subset: gard_rare {source="GARD:0004733"}
subset: ordo_disease {source="Orphanet:529"}
synonym: "Roch-Leri syndrome" RELATED [GARD:0004733]
xref: GARD:0004733 {source="MONDO:equivalentTo"}
xref: ICD10:E88.2 {source="ORDO:529/attributed", source="ORDO:529/ntbt", source="Orphanet:529"}
xref: Orphanet:529 {source="MONDO:equivalentTo"}
xref: SCTID:716772007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C4274284 {source="MONDO:equivalentTo"}
is_a: MONDO:0019296 {source="Orphanet:529"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/716772007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274284
property_value: exactMatch Orphanet:529
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis xsd:anyURI {source="GARD:0004733"}

[Term]
id: MONDO:0018885
name: orbital leiomyoma
def: "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." [Orphanet:52994]
subset: ordo_disease {source="Orphanet:52994"}
xref: ICD10:D31.6 {source="Orphanet:52994", source="ORDO:52994/ntbt"}
xref: Orphanet:52994 {source="MONDO:equivalentTo"}
xref: SCTID:719045009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4305000 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205236 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021220 {source="Orphanet:52994"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/719045009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205236
property_value: exactMatch Orphanet:52994

[Term]
id: MONDO:0018886
name: obsolete listeriosis
is_obsolete: true
replaced_by: MONDO:0005828

[Term]
id: MONDO:0018887
name: obsolete rare cutaneous lupus erythematosus
def: "Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE, see these terms)." [Orphanet:535]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:535"}
synonym: "rare cutaneous lupus erythematosus" EXACT [MONDO:patterns/rare]
xref: Orphanet:535 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:535
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005282
consider: ICD10:L93.0 {source="Orphanet:535", source="MONDO:superClassOf", source="ORDO:535/btnt"}
consider: ICD10:L93.1 {source="Orphanet:535", source="MONDO:superClassOf", source="ORDO:535/btnt"}
consider: ICD10:L93.2 {source="Orphanet:535", source="ORDO:535/btnt"}
consider: MedDRA:10056509 {source="ORDO:535/e", source="Orphanet:535"}
consider: MESH:D008178 {source="ORDO:535/e", source="Orphanet:535", source="MONDO:relatedTo"}
consider: UMLS:C0024137 {source="ORDO:535/e", source="Orphanet:535", source="MONDO:relatedTo"}

[Term]
id: MONDO:0018888
name: congenital cornea plana
subset: ordo_morphological_anomaly {source="Orphanet:53691"}
xref: ICD10:Q13.4 {source="ORDO:53691/attributed", source="ORDO:53691/ntbt", source="Orphanet:53691"}
xref: Orphanet:53691 {source="MONDO:equivalentTo"}
is_a: MONDO:0000733 ! cornea plana
is_a: MONDO:0020209 {source="Orphanet:53691"} ! rare hyperopia and astigmatism
property_value: exactMatch Orphanet:53691

[Term]
id: MONDO:0018889
name: hyaline body myopathy
subset: ordo_disease {source="Orphanet:53698"}
synonym: "myosin storage myopathy" RELATED [GARD:0007148]
xref: GARD:0007148 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="Orphanet:53698", source="ORDO:53698/attributed", source="ORDO:53698/ntbt"}
xref: Orphanet:53698 {source="MONDO:equivalentTo"}
is_a: MONDO:0016195 {source="Orphanet:53698"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:53698

[Term]
id: MONDO:0018890
name: Lyell syndrome
def: "Lyell syndrome is an extended form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." [Orphanet:537]
subset: ordo_clinical_subtype {source="Orphanet:537"}
xref: ICD10:L51.2 {source="Orphanet:537", source="ORDO:537/ntbt"}
xref: Orphanet:537 {source="MONDO:equivalentTo"}
xref: UMLS:CN205258 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019810 {source="Orphanet:537"} ! toxic epidermal necrolysis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205258
property_value: exactMatch Orphanet:537

[Term]
id: MONDO:0018891
name: familial tumoral calcinosis
def: "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis (see these tems)." [Orphanet:53715]
subset: gard_rare {source="GARD:0010877"}
subset: ordo_disease {source="Orphanet:53715"}
xref: DC:0000445 {source="MONDO:equivalentTo"}
xref: GARD:0010877 {source="MONDO:equivalentTo"}
xref: ICD10:M11.2 {source="ORDO:53715/attributed", source="ORDO:53715/ntbt", source="Orphanet:53715"}
xref: MedDRA:10059364 {source="ORDO:53715/e", source="Orphanet:53715"}
xref: Orphanet:53715 {source="MONDO:equivalentTo"}
is_a: MONDO:0002123 {source="DC:0000445"} ! calcinosis
is_a: MONDO:0015950 {source="Orphanet:53715", source="indirect"} ! inherited skin tumor
is_a: MONDO:0015970 {source="Orphanet:53715"} ! rare genetic parathyroid disease and phosphocalcic metabolism disorder
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019061 {source="MONDO:Redundant", source="Orphanet:53715", source="indirect"} ! rare parathyroid disease and phosphocalcic metabolism anomaly
is_a: MONDO:0021360 ! tumor of parathyroid gland
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:53715"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/meddra/10059364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263628
property_value: exactMatch Orphanet:53715
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis xsd:anyURI {source="GARD:0010877"}

[Term]
id: MONDO:0018892
name: Wyburn-Mason syndrome
def: "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." [Orphanet:53719]
subset: ordo_malformation_syndrome {source="Orphanet:53719"}
synonym: "arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" RELATED [GARD:0007900]
synonym: "bonnet-Decaume-Blanc syndrome" RELATED [GARD:0007900]
synonym: "bonnet-Dechaume-Blanc syndrome" EXACT [Orphanet:53719]
synonym: "CAMS2" EXACT [Orphanet:53719]
synonym: "Cerebrofacial arteriovenous metameric syndrome type 2" EXACT [Orphanet:53719]
synonym: "Wyburn Mason syndrome" RELATED [GARD:0007900]
synonym: "Wyburn Mason's syndrome" RELATED [GARD:0007900]
xref: GARD:0007900 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q28.2 {source="ORDO:53719/attributed", source="ORDO:53719/ntbt", source="Orphanet:53719"}
xref: MedDRA:10048661 {source="ORDO:53719/e", source="Orphanet:53719"}
xref: MESH:C536752 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:53719/e", source="Orphanet:53719"}
xref: Orphanet:53719 {source="MONDO:equivalentTo"}
xref: SCTID:6729006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0265321 {source="MONDO:equivalentTo", source="ORDO:53719/e", source="Orphanet:53719"}
is_a: MONDO:0003110 ! skin hemangioma
is_a: MONDO:0015405 {source="Orphanet:53719", source="linkedlifedata"} ! cerebrofacial arteriovenous metameric syndrome
is_a: MONDO:0019293 {source="Orphanet:53719"} ! skin vascular disease
is_a: MONDO:0020182 {source="Orphanet:53719"} ! palpebral tumor with a vascular malformation
is_a: MONDO:0021605 ! benign eyelid neoplasm
is_a: MONDO:0042983 {source="MESH:C536752", source="https://en.wikipedia.org/wiki/Phakomatosis", source="linkedlifedata"} ! neurocutaneous syndrome
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/meddra/10048661
property_value: exactMatch http://identifiers.org/mesh/C536752
property_value: exactMatch http://identifiers.org/snomedct/6729006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265321
property_value: exactMatch Orphanet:53719

[Term]
id: MONDO:0018893
name: Cobb syndrome
def: "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." [Orphanet:53721]
subset: gard_rare {source="GARD:0011892"}
subset: ordo_malformation_syndrome {source="Orphanet:53721"}
synonym: "Cobb's syndrome" EXACT [NCIT:C4485]
synonym: "cutaneomeningospinal angiomatosis" EXACT [Orphanet:53721]
synonym: "SAMS 1-31" EXACT [Orphanet:53721]
synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721]
xref: GARD:0011892 {source="MONDO:equivalentTo"}
xref: ICD10:Q27.3 {source="Orphanet:53721", source="ORDO:53721/ntbt"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068841 {source="ORDO:53721/e", source="Orphanet:53721"}
xref: NCIT:C4485 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:53721 {source="MONDO:equivalentTo"}
xref: SCTID:254774003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C0346068 {source="ORDO:53721/e", source="NCIT:C4485", source="Orphanet:53721", source="MONDO:equivalentTo"}
is_a: MONDO:0000648 ! nervous system benign neoplasm
is_a: MONDO:0001256 {source="Orphanet:53721"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0003110 ! skin hemangioma
is_a: MONDO:0015145 {source="Orphanet:53721"} ! neurovascular malformation
is_a: MONDO:0015356 {source="NCIT:C4485"} ! hereditary neoplastic syndrome
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0015953 ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019293 {source="Orphanet:53721", source="linkedlifedata/inferred"} ! skin vascular disease
property_value: exactMatch http://identifiers.org/meddra/10068841
property_value: exactMatch http://identifiers.org/snomedct/254774003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346068
property_value: exactMatch NCIT:C4485
property_value: exactMatch Orphanet:53721
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome xsd:anyURI {source="GARD:0011892"}

[Term]
id: MONDO:0018894
name: distal hereditary motor neuropathy
subset: gard_rare {source="GARD:0012683"}
subset: ordo_group_of_disorders {source="Orphanet:53739"}
synonym: "dHMN" EXACT [Orphanet:53739]
synonym: "distal spinal muscular atrophy" EXACT [Orphanet:53739]
synonym: "dSMA" EXACT [Orphanet:53739]
xref: GARD:0012683 {source="MONDO:equivalentTo"}
xref: Orphanet:53739 {source="MONDO:equivalentTo"}
xref: SCTID:230247001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: exactMatch http://identifiers.org/snomedct/230247001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393541
property_value: exactMatch Orphanet:53739
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy xsd:anyURI {source="GARD:0012683"}

[Term]
id: MONDO:0018895
name: Plummer-Vinson syndrome
def: "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." [Orphanet:54028]
subset: gard_rare {source="GARD:0008259"}
subset: ordo_disease {source="Orphanet:54028"}
synonym: "dysphagia sideropenica" RELATED [GARD:0008259]
synonym: "Kelly's syndrome" RELATED [GARD:0008259]
synonym: "Kelly-Paterson syndrome" EXACT [Orphanet:54028]
synonym: "Paterson's syndrome" RELATED [GARD:0008259]
synonym: "Paterson-Brown-Kelly syndrome" RELATED [GARD:0008259]
synonym: "Paterson-Kelly syndrome" RELATED [GARD:0008259]
synonym: "Paterson’s syndrome" RELATED [GARD:0008259]
synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259]
synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028]
xref: GARD:0008259 {source="MONDO:equivalentTo"}
xref: ICD10:D50.1 {source="Orphanet:54028", source="ORDO:54028/ntbt"}
xref: ICD9:280.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10040664 {source="ORDO:54028/e", source="Orphanet:54028"}
xref: MESH:D011004 {source="ORDO:54028/e", source="Orphanet:54028", source="MONDO:equivalentTo"}
xref: NCIT:C85016 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:54028 {source="MONDO:equivalentTo"}
xref: SCTID:80126007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032249 {source="ORDO:54028/e", source="Orphanet:54028", source="MONDO:equivalentTo", source="NCIT:C85016"}
is_a: MONDO:0002254 {source="MONDOLEX:0018895", source="NCIT:C85016"} ! syndromic disease
is_a: MONDO:0015111 {source="Orphanet:54028"} ! gastroesophageal disease
is_a: MONDO:0016625 {source="Orphanet:54028"} ! acquired deficiency anemia
property_value: exactMatch http://identifiers.org/meddra/10040664
property_value: exactMatch http://identifiers.org/mesh/D011004
property_value: exactMatch http://identifiers.org/snomedct/80126007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032249
property_value: exactMatch NCIT:C85016
property_value: exactMatch Orphanet:54028
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome xsd:anyURI {source="GARD:0008259"}

[Term]
id: MONDO:0018896
name: thrombotic thrombocytopenic purpura
def: "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms)." [Orphanet:54057]
subset: ordo_disease {source="Orphanet:54057"}
synonym: "Moschcowitz disease" EXACT [Orphanet:54057]
synonym: "Moschcowitz's syndrome" EXACT [DOID:10772, MTHICD9_2006:446.6]
synonym: "Moschowitz disease" EXACT [NCIT:C78797]
synonym: "TTP" EXACT [Orphanet:54057]
xref: COHD:4301602 {source="MONDO:equivalentTo"}
xref: DOID:10772 {source="MONDO:equivalentTo"}
xref: ICD10:M31.1 {source="MONDO:subClassOf", source="ORDO:54057/ntbt", source="Orphanet:54057", source="DOID:10772"}
xref: MedDRA:10043648 {source="ORDO:54057/e", source="Orphanet:54057"}
xref: MESH:D011697 {source="MONDO:equivalentTo", source="ORDO:54057/e", source="Orphanet:54057", source="DOID:10772"}
xref: NCIT:C78797 {source="MONDO:kboom-pr-0.95/0.79/1.81", source="MONDO:equivalentTo", source="DOID:10772"}
xref: Orphanet:54057 {source="MONDO:equivalentTo"}
xref: SCTID:78129009 {source="MONDO:kboom-pr-0.91/0.75/0.80", source="MONDO:equivalentTo", source="DOID:10772"}
xref: UMLS:C0034155 {source="MONDO:equivalentTo", source="NCIT:C78797", source="ORDO:54057/e", source="Orphanet:54057", source="DOID:10772"}
is_a: MONDO:0002305 {source="DOID:10772", source="MESH:D011697"} ! thrombophilia
is_a: MONDO:0016635 {source="Orphanet:54057"} ! thrombotic disorder due to a platelet anomaly
is_a: MONDO:0043768 {source="MESH:D011697", source="MONDOLEX:0018896", source="NCIT:C78797", source="linkedlifedata"} ! thrombocytopenic purpura
property_value: closeMatch http://identifiers.org/snomedct/155443009
property_value: closeMatch http://identifiers.org/snomedct/195358008
property_value: closeMatch http://identifiers.org/snomedct/195359000
property_value: closeMatch http://identifiers.org/snomedct/360402008
property_value: exactMatch DOID:10772
property_value: exactMatch http://identifiers.org/meddra/10043648
property_value: exactMatch http://identifiers.org/mesh/D011697
property_value: exactMatch http://identifiers.org/snomedct/78129009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034155
property_value: exactMatch NCIT:C78797
property_value: exactMatch Orphanet:54057

[Term]
id: MONDO:0018897
name: primary cutaneous CD30+ T-cell lymphoproliferative disease
subset: ordo_group_of_disorders {source="Orphanet:541"}
synonym: "primary cutaneous Ki-1+ T-cell lymphoproliferative disease" EXACT [Orphanet:541]
xref: ICD10:C86.6 {source="ORDO:541/e", source="Orphanet:541"}
xref: MedDRA:10065863 {source="ORDO:541/e", source="Orphanet:541"}
xref: Orphanet:541 {source="MONDO:equivalentTo"}
xref: UMLS:CN205268 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015816 {source="Orphanet:541"} ! indolent primary cutaneous T-cell lymphoma
property_value: exactMatch http://identifiers.org/meddra/10065863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1698767
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205268
property_value: exactMatch Orphanet:541

[Term]
id: MONDO:0018898
name: primary cutaneous lymphoma
def: "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." [Orphanet:542]
subset: ordo_group_of_disorders {source="Orphanet:542"}
synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162]
synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162]
synonym: "primary skin lymphoma" EXACT [NCIT:C7162]
xref: MedDRA:10051708 {source="ORDO:542/e", source="Orphanet:542"}
xref: NCIT:C7162 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:542 {source="MONDO:equivalentTo"}
xref: SCTID:400001003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1302772 {source="MONDO:equivalentTo", source="ORDO:542/e", source="Orphanet:542", source="NCIT:C7162"}
is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer
is_a: MONDO:0017207 {source="Orphanet:542"} ! primary organ-specific lymphoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:542"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/meddra/10051708
property_value: exactMatch http://identifiers.org/snomedct/400001003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276146
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302772
property_value: exactMatch NCIT:C7162
property_value: exactMatch Orphanet:542

[Term]
id: MONDO:0018899
name: posterior cortical atrophy
def: "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." [Orphanet:54247]
subset: ordo_disease {source="Orphanet:54247"}
synonym: "Benson syndrome" EXACT [Orphanet:54247]
synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247]
synonym: "PCA" EXACT [Orphanet:54247]
xref: ICD10:G31.1 {source="Orphanet:54247", source="ORDO:54247/attributed", source="ORDO:54247/ntbt"}
xref: Orphanet:54247 {source="MONDO:equivalentTo"}
xref: SCTID:715574002 {source="MONDO:kboom-pr-1.00/0.79/8.11", source="MONDO:equivalentTo"}
xref: UMLS:CN205270 {source="MONDO:equivalentTo"}
is_a: MONDO:0015547 ! genetic dementia
is_a: MONDO:0024237 {source="Orphanet:54247"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/715574002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205270
property_value: exactMatch Orphanet:54247

[Term]
id: MONDO:0018900
name: corticosteroid-sensitive aseptic abscess syndrome
def: "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." [Orphanet:54251]
subset: ordo_disease {source="Orphanet:54251"}
synonym: "aseptic abscesses syndrome" EXACT [Orphanet:54251]
synonym: "aseptic systemic abscesses" EXACT [Orphanet:54251]
synonym: "corticosteroid-sensitive aseptic abscesses" RELATED [GARD:0010946]
synonym: "disseminated aseptic abscesses" EXACT [Orphanet:54251]
xref: GARD:0010946 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:54251 {source="MONDO:equivalentTo"}
xref: SCTID:720751000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.48"}
xref: UMLS:CN205271 {source="MONDO:equivalentTo"}
is_a: MONDO:0019546 {source="Orphanet:54251"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/snomedct/720751000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205271
property_value: exactMatch Orphanet:54251

[Term]
id: MONDO:0018901
name: left ventricular noncompaction (disease)
def: "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." [Orphanet:54260]
subset: gard_rare {source="GARD:0010985"}
subset: ordo_disease {source="Orphanet:54260"}
synonym: "left ventricular hypertrabeculation" EXACT [DOID:0060480, Orphanet:54260]
synonym: "left ventricular non-compaction cardiomyopathy" EXACT [NCIT:C99544]
synonym: "left ventricular non-compaction syndrome" EXACT [NCIT:C99544]
synonym: "Lv non-compaction syndrome" EXACT [NCIT:C99544]
synonym: "LVNC" EXACT [Orphanet:54260]
synonym: "spongy myocardium" EXACT [Orphanet:54260]
xref: DOID:0060480 {source="MONDO:equivalentTo"}
xref: GARD:0010985 {source="MONDO:equivalentTo"}
xref: ICD10:I42.8 {source="ORDO:54260/attributed", source="ORDO:54260/ntbt", source="Orphanet:54260"}
xref: NCIT:C99544 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIMPS:604169 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="MONDO:equivalentTo", source="DOID:0060480"}
xref: UMLS:C1960469 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:54260/e", source="Orphanet:54260"}
xref: UMLS:C4021133 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000591 {source="DOID:0060480", source="https://en.wikipedia.org/wiki/Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0002254 {source="MONDOLEX:0018901", source="NCIT:C99544"} ! syndromic disease
is_a: MONDO:0005453 {source="NCIT:C99544"} ! congenital heart disease
is_a: MONDO:0016343 {source="Orphanet:54260"} ! unclassified cardiomyopathy
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} ! obsolete genetic cardiac malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3164472
property_value: exactMatch DOID:0060480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4021133
property_value: exactMatch NCIT:C99544
property_value: exactMatch Orphanet:54260
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction xsd:anyURI {source="GARD:0010985"}

[Term]
id: MONDO:0018902
name: hepatocellular adenoma
def: "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." [NCIT:C3758]
subset: ordo_disease {source="Orphanet:54272"}
synonym: "adenoma of liver cells" EXACT [NCIT:C3758]
synonym: "adenoma of the liver cells" EXACT [NCIT:C3758]
synonym: "adenoma, hepatocellular, benign" EXACT [NCIT:C3758]
synonym: "HCA" EXACT [NCIT:C3758]
synonym: "hepatocellular adenoma" EXACT [NCIT:C3758]
synonym: "LIAD" RELATED [ONCOTREE:LIAD]
synonym: "liver cell adenoma" EXACT [NCIT:C3758]
xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"}
xref: EFO:0000762 {source="MONDO:equivalentTo"}
xref: ICD10:D13.4 {source="ORDO:54272/ntbt", source="Orphanet:54272"}
xref: ICDO:8170/0 {source="NCIT:C3758"}
xref: MedDRA:10019827 {source="ORDO:54272/e", source="Orphanet:54272"}
xref: MESH:D018248 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="MONDO:ontobio", source="Orphanet:54272"}
xref: NCIT:C3758 {source="MONDO:equivalentTo", source="EFO:0000762", source="exact-label-match"}
xref: ONCOTREE:LIAD {source="MONDO:equivalentTo"}
xref: Orphanet:54272 {source="MONDO:equivalentTo"}
xref: UMLS:C0206669 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="Orphanet:54272", source="NCIT:C3758"}
is_a: MONDO:0000385 {source="MONDO:Entailed"} ! benign digestive system neoplasm
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0004721 ! liver neoplasm
is_a: MONDO:0004972 {source="DOID:0050868", source="EFO:0000762", source="MESH:D018248", source="NCIT:C3758"} ! adenoma
is_a: MONDO:0018530 ! rare epithelial tumor of liver and intrahepatic biliary tract
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: closeMatch http://identifiers.org/snomedct/78058005
property_value: exactMatch DOID:0050868
property_value: exactMatch http://identifiers.org/meddra/10019827
property_value: exactMatch http://identifiers.org/mesh/D018248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206669
property_value: exactMatch NCIT:C3758
property_value: exactMatch Orphanet:54272

[Term]
id: MONDO:0018903
name: sarcocystosis
def: "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." [MESH:D012523]
subset: ordo_disease {source="Orphanet:54368"}
synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM_2006:136.5, Orphanet:54368]
xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"}
xref: EFO:0007476 {source="MONDO:equivalentTo"}
xref: ICD10:A07.8 {source="Orphanet:54368", source="DOID:9640", source="ORDO:54368/ntbt"}
xref: ICD9:136.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9640"}
xref: MedDRA:10039483 {source="Orphanet:54368", source="ORDO:54368/e"}
xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9640", source="EFO:0007476", source="ORDO:54368/e"}
xref: Orphanet:54368 {source="MONDO:equivalentTo"}
xref: SCTID:88905005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9640"}
xref: UMLS:C0036231 {source="Orphanet:54368", source="MONDO:equivalentTo", source="DOID:9640", source="ORDO:54368/e"}
is_a: MONDO:0005707 {source="DOID:9640", source="MESH:D012523", source="linkedlifedata"} ! coccidiosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch DOID:9640
property_value: exactMatch http://identifiers.org/meddra/10039483
property_value: exactMatch http://identifiers.org/mesh/D012523
property_value: exactMatch http://identifiers.org/snomedct/88905005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036231
property_value: exactMatch Orphanet:54368

[Term]
id: MONDO:0018904
name: primary membranoproliferative glomerulonephritis
def: "Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." [Orphanet:54370]
subset: ordo_disease {source="Orphanet:54370"}
synonym: "membranoproliferative glomerulonephritis" EXACT [NCIT:C34644]
synonym: "membranoproliferative glomerulonephritis" RELATED [NCIT:C34644]
synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370]
synonym: "MPGN" EXACT [Orphanet:54370]
xref: COHD:433257 {source="MONDO:equivalentTo"}
xref: GARD:0011982 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N00.5 {source="ORDO:54370/ntbt", source="Orphanet:54370", source="ORDO:54370/inclusion"}
xref: ICD9:583.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10018370 {source="ORDO:54370/e", source="Orphanet:54370"}
xref: NCIT:C34644 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: Orphanet:54370 {source="MONDO:equivalentTo"}
xref: SCTID:80321008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0017662 {source="MONDO:equivalentTo", source="ORDO:54370/e", source="Orphanet:54370", source="NCIT:C34644"}
is_a: MONDO:0002462 {source="MONDOLEX:0018904", source="NCIT:C34644", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease)
is_a: MONDO:0015163 {source="Orphanet:54370"} ! primary glomerular disease
property_value: exactMatch http://identifiers.org/meddra/10018370
property_value: exactMatch http://identifiers.org/mesh/D015432
property_value: exactMatch http://identifiers.org/snomedct/80321008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017662
property_value: exactMatch NCIT:C34644
property_value: exactMatch Orphanet:54370

[Term]
id: MONDO:0018905
name: diffuse large B-cell lymphoma
def: "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." [Orphanet:544]
subset: gard_rare {source="GARD:0003178"}
subset: ordo_group_of_disorders {source="Orphanet:544"}
synonym: "diffuse large B-cell lymphoma" EXACT [MONDO:0005018, NCIT:C8851]
synonym: "DLBCL" EXACT [NCIT:C8851, Orphanet:544]
xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"}
xref: EFO:0000403 {source="MONDO:equivalentTo"}
xref: GARD:0003178 {source="MONDO:equivalentTo"}
xref: ICD10:C83.3 {source="Orphanet:544", source="ORDO:544/e"}
xref: ICD9:200.7 {source="EFO:0000403"}
xref: ICDO:9680/3 {source="NCIT:C8851"}
xref: MedDRA:10012818 {source="Orphanet:544", source="ORDO:544/e"}
xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="EFO:0000403", source="ORDO:544/e"}
xref: NCIT:C8851 {source="MONDO:equivalentTo", source="EFO:0000403"}
xref: Orphanet:544 {source="MONDO:equivalentTo"}
xref: UMLS:C0079744 {source="Orphanet:544", source="NCIT:C8851", source="MONDO:equivalentTo", source="ORDO:544/e"}
is_a: MONDO:0004949 {source="EFO:0000403", source="NCIT:C8851/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0017595 {source="Orphanet:544"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: exactMatch DOID:0050745
property_value: exactMatch http://identifiers.org/meddra/10012818
property_value: exactMatch http://identifiers.org/mesh/D016403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079744
property_value: exactMatch NCIT:C8851
property_value: exactMatch Orphanet:544
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma xsd:anyURI {source="GARD:0003178"}

[Term]
id: MONDO:0018906
name: follicular lymphoma
def: "Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." [Orphanet:545]
subset: gard_rare {source="GARD:0002356"}
subset: ordo_disease {source="Orphanet:545"}
synonym: "follicle center lymphoma" EXACT [NCIT:C3209]
synonym: "follicular centre cell lymphoma" EXACT [NCIT:C3209]
synonym: "follicular non-Hodgkin lymphoma" EXACT [NCIT:C3209]
synonym: "follicular non-Hodgkin's lymphoma" EXACT [NCIT:C3209]
synonym: "lymphoma, follicular" RELATED [GARD:0002356]
synonym: "lymphoma, follicular centre cell" EXACT [NCIT:C3209]
synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209]
xref: DOID:0050873 {source="MONDO:equivalentTo"}
xref: GARD:0002356 {source="MONDO:equivalentTo"}
xref: HGNC:990 {source="GARD:0002356"}
xref: ICD10:C82.0 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.1 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.2 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.3 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.4 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.5 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.6 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.7 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICD10:C82.9 {source="Orphanet:545", source="ORDO:545/btnt"}
xref: ICDO:9690/3 {source="NCIT:C3209"}
xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:545/e"}
xref: NCIT:C3209 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:FL {source="MONDO:equivalentTo"}
xref: Orphanet:545 {source="MONDO:equivalentTo"}
xref: SCTID:308121000 {source="MONDO:equivalentTo"}
xref: UMLS:C0024301 {source="NCIT:C3209", source="Orphanet:545", source="MONDO:equivalentTo", source="ORDO:545/e"}
is_a: MONDO:0004949 {source="NCIT:C3209/inferred", source="ONCOTREE:FL"} ! neoplasm of mature B-cells
is_a: MONDO:0017594 {source="Orphanet:545"} ! indolent B-cell non-Hodgkin lymphoma
property_value: exactMatch DOID:0050873
property_value: exactMatch http://identifiers.org/mesh/D008224
property_value: exactMatch http://identifiers.org/snomedct/308121000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024301
property_value: exactMatch NCIT:C3209
property_value: exactMatch Orphanet:545
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma xsd:anyURI {source="GARD:0002356"}

[Term]
id: MONDO:0018907
name: craniopharyngioma
def: "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" [NCIT:C2964]
subset: ordo_disease {source="Orphanet:54595"}
synonym: "Adamantinomatous tumor" RELATED [GARD:0010486]
synonym: "craniopharyngeal duct tumor" RELATED [GARD:0010486]
synonym: "craniopharyngioma (morphologic abnormality)" EXACT [DOID:3840]
synonym: "craniopharyngioma (WHO grade I)" EXACT [NCIT:C2964]
synonym: "craniopharyngioma, benign" EXACT [NCIT:C2964]
synonym: "cystoma" EXACT [NCIT:C2964]
synonym: "Dysodontogenic epithelial tumor" RELATED [GARD:0010486]
synonym: "neoplasm of Rathke's pouch" EXACT [DOID:3840, NCIT:C2964]
synonym: "Rathke pouch neoplasm" EXACT [NCIT:C2964]
synonym: "Rathke pouch tumor" EXACT [NCIT:C2964]
synonym: "Rathke's pouch neoplasm" EXACT [NCIT:C2964]
synonym: "Rathke's pouch tumor" EXACT [NCIT:C2964]
synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964]
xref: DOID:3840 {source="MONDO:equivalentTo"}
xref: EFO:1000209 {source="MONDO:equivalentTo"}
xref: GARD:0010486 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D44.4 {source="ORDO:54595/e", source="ORDO:54595/specific", source="Orphanet:54595"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9350/1 {source="NCIT:C2964"}
xref: MedDRA:10011318 {source="ORDO:54595/e", source="Orphanet:54595"}
xref: MESH:D003397 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="Orphanet:54595"}
xref: NCIT:C2964 {source="DOID:3840", source="MONDO:equivalentTo", source="EFO:1000209"}
xref: Orphanet:54595 {source="MONDO:equivalentTo"}
xref: SCTID:189179009 {source="DOID:3840", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0010276 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="NCIT:C2964", source="Orphanet:54595"}
is_a: MONDO:0000628 {source="DOID:3840", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0002532 {source="NCIT:C2964"} ! squamous cell neoplasm
is_a: MONDO:0002720 {source="MONDO:Redundant", source="NCIT:C2964"} ! sella turcica neoplasm
is_a: MONDO:0023369 ! disease of facial skeleton
is_a: MONDO:0036976 ! benign epithelial neoplasm
relationship: disease_has_feature MONDO:0019590 {source="MONDO:Redundant", source="Orphanet:54595-modified"} ! rare endocrine growth disease
relationship: disease_has_feature MONDO:0019833 {source="Orphanet:54595-modified"} ! pituitary hormone deficiency from tumoral origin
relationship: excluded_subClassOf MONDO:0015514 {source="MONDO:Redundant", source="Orphanet:54595"} ! genetic endocrine growth disease
relationship: has_modifier MONDO:0024491 {source="NCIT:C2964"} ! tumor grade 1, general grading system
property_value: closeMatch http://identifiers.org/snomedct/40009002
property_value: exactMatch DOID:3840
property_value: exactMatch http://identifiers.org/meddra/10011318
property_value: exactMatch http://identifiers.org/mesh/D003397
property_value: exactMatch http://identifiers.org/snomedct/189179009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010276
property_value: exactMatch NCIT:C2964
property_value: exactMatch Orphanet:54595

[Term]
id: MONDO:0018908
name: non-Hodgkin lymphoma
def: "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." [NCIT:C3211]
subset: ordo_group_of_disorders {source="Orphanet:547"}
synonym: "NHL" EXACT [NCIT:C3211, Orphanet:547]
synonym: "NHL, NOS" RELATED EXCLUDE [NCIT:C3211]
synonym: "non-Hodgkin lymphoma" EXACT [NCIT:C3211]
synonym: "non-Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C3211]
synonym: "non-Hodgkin's lymphoma" EXACT [NCIT:C3211]
synonym: "non-Hodgkin's lymphoma (NHL)" EXACT [NCIT:C3211]
synonym: "non-Hodgkins lymphoma" EXACT [MONDO:0005587]
xref: DOID:0060060 {source="EFO:0005952", source="MONDO:equivalentTo"}
xref: EFO:0005952 {source="MONDO:equivalentTo"}
xref: ICDO:9591/3 {source="NCIT:C3211"}
xref: MedDRA:10029547 {source="ORDO:547/e", source="Orphanet:547"}
xref: MESH:D008228 {source="ORDO:547/e", source="Orphanet:547", source="MONDO:equivalentTo"}
xref: NCIT:C3211 {source="EFO:0005952", source="MONDO:equivalentTo"}
xref: ONCOTREE:NHL {source="MONDO:equivalentTo"}
xref: Orphanet:547 {source="MONDO:equivalentTo"}
xref: UMLS:C0024305 {source="ORDO:547/e", source="Orphanet:547", source="MONDO:equivalentTo", source="NCIT:C3211"}
is_a: MONDO:0005062 {source="DOID:0060060", source="EFO:0005952", source="MESH:D008228", source="NCIT:C3211", source="Orphanet:547"} ! lymphoma
property_value: exactMatch DOID:0060060
property_value: exactMatch http://identifiers.org/meddra/10029547
property_value: exactMatch http://identifiers.org/mesh/D008228
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024305
property_value: exactMatch NCIT:C3211
property_value: exactMatch Orphanet:547

[Term]
id: MONDO:0018909
name: obsolete legionellosis
is_obsolete: true
replaced_by: MONDO:0005823

[Term]
id: MONDO:0018910
name: oculocutaneous albinism
def: "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." [Orphanet:55]
subset: gard_rare {source="GARD:0010958"}
subset: ordo_group_of_disorders {source="Orphanet:55"}
synonym: "albinism, oculocutaneous" RELATED [GARD:0010958]
synonym: "non-syndromic oculocutaneous albinism" EXACT []
synonym: "nonsyndromic oculocutaneous albinism" EXACT [https://github.com/monarch-initiative/mondo/issues/641]
synonym: "OCA" EXACT [Orphanet:55]
xref: DOID:0050632 {source="MONDO:equivalentTo"}
xref: GARD:0010958 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="Orphanet:55", source="DOID:0050632", source="ORDO:55/inclusion", source="ORDO:55/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016115 {source="ORDO:55/e", source="Orphanet:55", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84941 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:203100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:55 {source="DOID:0050632", source="MONDO:equivalentTo"}
xref: SCTID:63844009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0078918 {source="ORDO:55/e", source="NCIT:C84941", source="Orphanet:55", source="MONDO:equivalentTo"}
is_a: MONDO:0018134 {source="Orphanet:55"} ! disorder of melanin metabolism
is_a: MONDO:0019290 {source="MESH:D016115/inferred", source="Orphanet:55"} ! hypopigmentation of the skin (disease)
is_a: MONDO:0020275 {source="Orphanet:55"} ! oculocutaneous or ocular albinism
is_a: MONDO:0024255 ! genetic skin disease
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:0050632"} ! autosomal recessive disease
property_value: exactMatch DOID:0050632
property_value: exactMatch http://identifiers.org/mesh/D016115
property_value: exactMatch http://identifiers.org/snomedct/63844009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0078918
property_value: exactMatch NCIT:C84941
property_value: exactMatch Orphanet:55
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism xsd:anyURI {source="GARD:0010958"}

[Term]
id: MONDO:0018911
name: maturity-onset diabetes of the young (disease)
def: "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." [Orphanet:552]
subset: ordo_disease {source="Orphanet:552"}
synonym: "Mason type diabetes" RELATED [GARD:0003697]
synonym: "Mason-type diabetes" EXACT [DOID:0050524]
synonym: "maturity onset diabetes of the young" EXACT [NCIT:C114769]
synonym: "maturity-onset diabetes of the young" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:606391, Orphanet:552]
synonym: "maturity-onset diabetes of the young; MODY" RELATED [OMIM:606391]
synonym: "MODY" EXACT [DOID:0050524, MONDO:Lexical, OMIM:606391]
xref: DOID:0050524 {source="MONDO:equivalentTo"}
xref: GARD:0003697 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: HP:0004904 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E11.8 {source="DOID:0050524"}
xref: ICD10:E11.9 {source="ORDO:552/attributed", source="ORDO:552/ntbt", source="Orphanet:552"}
xref: KEGG:04950 {source="DOID:0050524", source="MONDO:equivalentTo"}
xref: MESH:C562772 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C114769 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: OMIM:606391 {source="ORDO:552/btnt", source="DOID:0050524", source="MONDO:equivalentTo", source="Orphanet:552"}
xref: Orphanet:552 {source="DOID:0050524", source="MONDO:equivalentTo", source="OMIM:606391"}
xref: SCTID:609561005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342276 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606391", source="NCIT:C114769", source="Orphanet:552"}
is_a: MONDO:0015887 {source="Orphanet:552"} ! rare diabetes mellitus type 2
property_value: exactMatch DOID:0050524
property_value: exactMatch http://identifiers.org/mesh/C562772
property_value: exactMatch http://identifiers.org/omim/606391
property_value: exactMatch http://identifiers.org/snomedct/609561005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342276
property_value: exactMatch NCIT:C114769
property_value: exactMatch Orphanet:552

[Term]
id: MONDO:0018912
name: Cushing syndrome
def: "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." [Orphanet:553]
comment: Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form
subset: ordo_group_of_disorders {source="Orphanet:553"}
synonym: "adrenal hyperfunction resulting from pituitary ACTH excess" RELATED [GARD:0006224]
synonym: "cortisol Excess" EXACT [NCIT:C2969]
synonym: "Cushing syndrome" EXACT [DOID:12252]
synonym: "Cushing's syndrome" EXACT [Orphanet:553]
synonym: "ectopic adrenocorticotropic hormone syndrome" RELATED [GARD:0006224]
synonym: "hyperadrenocorticism" EXACT [Orphanet:553]
synonym: "hypercortisolism" BROAD [Orphanet:553]
synonym: "nodular primary adrenocortical dysplasia" RELATED [GARD:0006224]
synonym: "pituitary basophilism" EXACT [CSP2005:0060-4199, DOID:12252]
synonym: "suprarenogenic syndrome" EXACT [DOID:12252]
xref: EFO:0003099 {source="MONDO:equivalentTo"}
xref: GARD:0006224 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E24 {source="MONDO:equivalentTo", source="DOID:12252"}
xref: ICD10:E24.0 {source="MONDO:superClassOf", source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.1 {source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.2 {source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.3 {source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.4 {source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.8 {source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD10:E24.9 {source="DOID:12252", source="ORDO:553/btnt", source="Orphanet:553"}
xref: ICD9:255.0 {source="EFO:0003099", source="DOID:12252"}
xref: MedDRA:10011652 {source="ORDO:553/e", source="Orphanet:553"}
xref: MedDRA:10020562 {source="ORDO:553/e", source="Orphanet:553"}
xref: MedDRA:10020564 {source="ORDO:553/e", source="Orphanet:553"}
xref: MedDRA:10020610 {source="ORDO:553/e", source="Orphanet:553"}
xref: MESH:D003480 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252", source="ORDO:553/e", source="Orphanet:553"}
xref: NCIT:C2969 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252"}
xref: Orphanet:553 {source="MONDO:equivalentTo"}
xref: UMLS:C0010481 {source="NCIT:C2969", source="MONDO:equivalentTo", source="DOID:12252", source="ORDO:553/e", source="Orphanet:553"}
is_a: MONDO:0002254 {source="MONDOLEX:0018912", source="NCIT:C2969/inferred"} ! syndromic disease
is_a: MONDO:0005495 {source="Orphanet:553"} ! adrenal gland disease
is_a: MONDO:0029001 ! chemically-induced disorder
relationship: excluded_subClassOf MONDO:0006640 {source="DOID:12252", source="MESH:D003480"} ! adrenal gland hyperfunction
property_value: closeMatch DOID:12252
property_value: closeMatch http://identifiers.org/snomedct/154705004
property_value: closeMatch http://identifiers.org/snomedct/190505004
property_value: closeMatch http://identifiers.org/snomedct/47270006
property_value: exactMatch http://identifiers.org/meddra/10011652
property_value: exactMatch http://identifiers.org/meddra/10020562
property_value: exactMatch http://identifiers.org/meddra/10020564
property_value: exactMatch http://identifiers.org/meddra/10020610
property_value: exactMatch http://identifiers.org/mesh/D000308
property_value: exactMatch http://identifiers.org/mesh/D003480
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001622
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010481
property_value: exactMatch NCIT:C2969
property_value: exactMatch Orphanet:553

[Term]
id: MONDO:0018913
name: malakoplakia
def: "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." [Orphanet:556]
subset: gard_rare {source="GARD:0006960"}
subset: ordo_disease {source="Orphanet:556"}
synonym: "malacoplakia" RELATED [GARD:0006960]
xref: EFO:1001807 {source="MONDO:equivalentTo"}
xref: GARD:0006960 {source="MONDO:equivalentTo"}
xref: MESH:D008287 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84833 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:556 {source="MONDO:equivalentTo"}
xref: SCTID:716766007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0005020 {source="Orphanet:556"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024525
property_value: exactMatch http://identifiers.org/mesh/D008287
property_value: exactMatch http://identifiers.org/snomedct/716766007
property_value: exactMatch NCIT:C84833
property_value: exactMatch Orphanet:556
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6960/malakoplakia xsd:anyURI {source="GARD:0006960"}

[Term]
id: MONDO:0018914
name: hypotrichosis simplex
def: "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." [Orphanet:55654]
subset: ordo_disease {source="Orphanet:55654"}
synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654]
xref: GARD:0009170 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L65.8 {source="Orphanet:55654", source="ORDO:55654/attributed", source="ORDO:55654/ntbt"}
xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:55654/e"}
xref: Orphanet:55654 {source="MONDO:equivalentTo"}
xref: SCTID:723362004 {source="MONDO:equivalentTo"}
xref: UMLS:C1854310 {source="Orphanet:55654", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:55654/e"}
is_a: MONDO:0004907 {source="Orphanet:55654"} ! alopecia
property_value: exactMatch http://identifiers.org/mesh/C537160
property_value: exactMatch http://identifiers.org/snomedct/723362004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1854310
property_value: exactMatch Orphanet:55654

[Term]
id: MONDO:0018915
name: obsolete pneumococcal meningitis
is_obsolete: true
replaced_by: MONDO:0006913

[Term]
id: MONDO:0018916
name: isolated anorectal malformation
def: "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." [Orphanet:557]
subset: ordo_morphological_anomaly {source="Orphanet:557"}
synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q42.0 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"}
xref: ICD10:Q42.1 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"}
xref: ICD10:Q42.2 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"}
xref: ICD10:Q42.3 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"}
xref: Orphanet:557 {source="MONDO:equivalentTo"}
is_a: MONDO:0019938 {source="MONDO:Redundant", source="Orphanet:557"} ! anorectal malformation
intersection_of: MONDO:0019938 ! anorectal malformation
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495676
property_value: exactMatch Orphanet:557

[Term]
id: MONDO:0018917
name: obsolete Marfan syndrome
is_obsolete: true
replaced_by: MONDO:0007947

[Term]
id: MONDO:0018918
name: carcinoma of gallbladder and extrahepatic biliary tract
def: "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." [Orphanet:56044]
subset: ordo_group_of_disorders {source="Orphanet:56044"}
synonym: "carcinoma of gallbladder and EBT" EXACT [Orphanet:56044]
xref: MedDRA:10007426 {source="ORDO:56044/e", source="Orphanet:56044"}
xref: Orphanet:56044 {source="MONDO:equivalentTo"}
xref: UMLS:CN205299 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017631 {source="Orphanet:56044"} ! rare tumor of gallbladder and extrahepatic biliary tract
property_value: exactMatch http://identifiers.org/meddra/10007426
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235782
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205299
property_value: exactMatch Orphanet:56044

[Term]
id: MONDO:0018919
name: McCune-Albright syndrome
def: "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." [Orphanet:562]
subset: ordo_disease {source="Orphanet:562"}
synonym: "Albright's disease" EXACT [GARD:0006995]
synonym: "gonadotropin-independent female-limited sexual precocity" EXACT [Orphanet:562]
synonym: "MAS" EXACT [NCIT:C48627]
synonym: "McCune Albright syndrome" EXACT [NCIT:C48627]
synonym: "PFD" RELATED [GARD:0006995]
synonym: "POFD" RELATED [GARD:0006995]
synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800]
xref: DOID:1858 {source="MONDO:equivalentTo"}
xref: GARD:0006995 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q78.1 {source="ORDO:562/inclusion", source="ORDO:562/ntbt", source="MONDO:relatedTo", source="Orphanet:562"}
xref: NCIT:C48627 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: OMIM:174800 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:562/e", source="DOID:1858", source="Orphanet:562"}
xref: Orphanet:562 {source="MONDO:equivalentTo"}
xref: SCTID:726029005 {source="MONDO:equivalentTo"}
xref: UMLS:C0016065 {source="OMIM:174800", source="ORDO:93276/e", source="Orphanet:93276", source="MONDO:equivalentTo", source="NCIT:C34610", source="DOID:1858"}
xref: UMLS:C0242292 {source="OMIM:174800", source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:562/e", source="NCIT:C48627", source="Orphanet:562"}
is_a: MONDO:0015945 {source="Orphanet:562"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017820 {source="Orphanet:562"} ! disease with Cushing syndrome as a major feature
is_a: MONDO:0019708 {source="Orphanet:562"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: disease_has_feature MONDO:0015791 {source="Orphanet:562"} ! peripheral precocious puberty
relationship: disease_has_feature MONDO:0018561 {source="Orphanet:562"} ! precocious puberty in female
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:562"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:1858"} ! autosomal dominant disease
property_value: exactMatch DOID:1858
property_value: exactMatch http://identifiers.org/mesh/D005359
property_value: exactMatch http://identifiers.org/omim/174800
property_value: exactMatch http://identifiers.org/snomedct/726029005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242292
property_value: exactMatch NCIT:C48627
property_value: exactMatch Orphanet:562

[Term]
id: MONDO:0018920
name: peripartum cardiomyopathy
def: "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." [Orphanet:563]
subset: gard_rare
subset: ordo_disease {source="Orphanet:563"}
synonym: "antepartum peripartum cardiomyopathy" EXACT [DOID:9997]
synonym: "Meadows' syndrome" RELATED [GARD:0000220]
synonym: "peripartum cardiomyopathy" EXACT [MONDO:0005199]
synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, Orphanet:563]
synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997]
xref: COHD:312383 {source="MONDO:equivalentTo"}
xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"}
xref: EFO:0002628 {source="MONDO:equivalentTo"}
xref: GARD:0000220 {source="MONDO:equivalentTo"}
xref: ICD10:O90.3 {source="DOID:9997", source="MONDO:equivalentTo", source="ORDO:563/e", source="Orphanet:563"}
xref: ICD9:674.5 {source="DOID:9997", source="EFO:0002628"}
xref: ICD9:674.54 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10049430 {source="ORDO:563/e", source="Orphanet:563"}
xref: Orphanet:563 {source="GARD:0000220", source="MONDO:equivalentTo"}
xref: SCTID:62377009 {source="MONDO:equivalentTo", source="EFO:0002628", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0269972 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:563/e", source="Orphanet:563"}
is_a: MONDO:0016338 {source="Orphanet:563"} ! non-familial dilated cardiomyopathy
is_a: MONDO:0024575 {source="Orphanet:563"} ! pregnancy disorder
property_value: closeMatch http://identifiers.org/snomedct/16253001
property_value: exactMatch DOID:9997
property_value: exactMatch http://identifiers.org/meddra/10049430
property_value: exactMatch http://identifiers.org/snomedct/62377009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269972
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877208
property_value: exactMatch Orphanet:563

[Term]
id: MONDO:0018921
name: Meckel syndrome
def: "Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate (see these terms), cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." [Orphanet:564]
subset: ordo_malformation_syndrome {source="Orphanet:564"}
synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564]
xref: DOID:0050778 {source="MONDO:equivalentTo"}
xref: GARD:0003436 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q61.9 {source="ORDO:564/inclusion", source="ORDO:564/ntbt", source="Orphanet:564"}
xref: ICD9:753.1 {source="DOID:0050778"}
xref: ICD9:753.10 {source="DOID:0050778"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C98978 {source="MONDO:kboom-pr-0.92/0.74/1.29", source="MONDO:equivalentTo"}
xref: OMIMPS:249000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="MONDO:equivalentTo", source="DOID:0050778"}
xref: SCTID:29076005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.52"}
xref: UMLS:C0265215 {source="NCIT:C98978", source="MONDO:equivalentTo", source="ORDO:564/e", source="Orphanet:564"}
is_a: MONDO:0015214 {source="Orphanet:564"} ! syndromic visceral malformation
is_a: MONDO:0015218 {source="Orphanet:564"} ! syndromic developmental defect of the eye
is_a: MONDO:0015335 {source="Orphanet:564"} ! orofacial clefting syndrome
is_a: MONDO:0017120 {source="Orphanet:564"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0017434 {source="Orphanet:564"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019721 {source="Orphanet:564"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0019741 {source="Orphanet:564"} ! familial cystic renal disease
is_a: MONDO:0020222 {source="Orphanet:564"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020229 {source="Orphanet:564"} ! cerebral disease with cataract
is_a: MONDO:0020237 {source="Orphanet:564"} ! lens shape anomaly
is_a: MONDO:0022409 ! nephropathy-associated ciliopathy
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:564"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/204954005
property_value: closeMatch http://identifiers.org/snomedct/204966004
property_value: closeMatch http://identifiers.org/snomedct/236440007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311245
property_value: exactMatch DOID:0050778
property_value: exactMatch http://identifiers.org/snomedct/29076005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265215
property_value: exactMatch NCIT:C98978
property_value: exactMatch Orphanet:564

[Term]
id: MONDO:0018922
name: cold agglutinin disease
def: "Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." [Orphanet:56425]
subset: ordo_disease {source="Orphanet:56425"}
synonym: "anemia, hemolytic, cold antibody" RELATED [GARD:0006130]
synonym: "CAD" EXACT [Orphanet:56425]
synonym: "CAS" EXACT [Orphanet:56425]
synonym: "chronic cold agglutinin disease" EXACT [Orphanet:56425]
synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425]
synonym: "cold antibody disease" RELATED [GARD:0006130]
synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130]
xref: GARD:0006130 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D59.1 {source="Orphanet:56425", source="ORDO:56425/ntbt"}
xref: Orphanet:56425 {source="MONDO:equivalentTo"}
xref: SCTID:127055007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.76/2.69"}
xref: UMLS:C1264008 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN205305 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016450 {source="Orphanet:56425"} ! autoimmune hemolytic anemia, cold type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0175816
property_value: exactMatch http://identifiers.org/snomedct/127055007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1264008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205305
property_value: exactMatch Orphanet:56425

[Term]
id: MONDO:0018923
name: 22q11.2 deletion syndrome
def: "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." [Orphanet:567]
subset: ordo_malformation_syndrome {source="Orphanet:567"}
synonym: "22q11DS" EXACT [Orphanet:567]
synonym: "catch 22" EXACT [Orphanet:567]
synonym: "Cayler cardiofacial syndrome" EXACT [Orphanet:567]
synonym: "conotruncal anomaly face syndrome" EXACT [Orphanet:567]
synonym: "DiGeorge sequence" EXACT [Orphanet:567]
synonym: "DiGeorge syndrome" EXACT [Orphanet:567]
synonym: "microdeletion 22q11.2" EXACT [Orphanet:567]
synonym: "monosomy 22q11" EXACT [Orphanet:567]
synonym: "Sedlackova syndrome" EXACT [Orphanet:567]
synonym: "Shprintzen syndrome" EXACT [Orphanet:567]
synonym: "Takao syndrome" EXACT [Orphanet:567]
synonym: "VCFS" RELATED [GARD:0010299]
synonym: "velocardiofacial syndrome" RELATED [Orphanet:567]
xref: GARD:0010299 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D82.1 {source="Orphanet:567", source="ORDO:567/specific", source="ORDO:567/e"}
xref: MedDRA:10012979 {source="Orphanet:567", source="ORDO:567/e"}
xref: MedDRA:10066430 {source="Orphanet:567", source="ORDO:567/e"}
xref: Orphanet:567 {source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:567"} ! syndromic anorectal malformation
is_a: MONDO:0015320 {source="Orphanet:567"} ! Pierre Robin syndrome associated with a chromosomal anomaly
is_a: MONDO:0015334 {source="Orphanet:567"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015506 {source="Orphanet:567"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015895 {source="Orphanet:567"} ! syndrome with hypoparathyroidism
is_a: MONDO:0016920 {source="Orphanet:567"} ! partial deletion of the long arm of chromosome 22
is_a: MONDO:0018036 {source="Orphanet:567"} ! immunodeficiency due to absence of thymus
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:567"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:567"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020016 {source="Orphanet:567"} ! rare neurologic disease with psychiatric involvement
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:567"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/meddra/10012979
property_value: exactMatch http://identifiers.org/meddra/10066430
property_value: exactMatch http://identifiers.org/mesh/D058165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220704
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3266101
property_value: exactMatch Orphanet:567

[Term]
id: MONDO:0018924
name: microphthalmia, Lenz type
def: "Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms)." [Orphanet:568]
comment: Editors note: TODO check
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:568"}
synonym: "Lenz dysplasia" RELATED [GARD:0000087]
synonym: "Lenz microphthalmia" EXACT [Orphanet:568]
synonym: "Lenz microphthamia syndrome" EXACT [PMID:31127942]
synonym: "MAA (formerly)" RELATED [GARD:0000087]
synonym: "MCOPS1" RELATED [GARD:0000087]
synonym: "microphthalmia Lenz type" RELATED [GARD:0000087]
synonym: "microphthalmia or anophthalmos with associated anomalies (formerly)" RELATED [GARD:0000087]
synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087]
synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087]
xref: GARD:0000087 {source="MONDO:equivalentTo"}
xref: ICD10:Q11.2 {source="Orphanet:568", source="ORDO:568/attributed", source="ORDO:568/ntbt"}
xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"}
is_a: MONDO:0016073 {source="MONDOLEX:0018924", source="Orphanet:568"} ! syndromic microphthalmia
is_a: MONDO:0020237 {source="Orphanet:568"} ! lens shape anomaly
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:568"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:568"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796016
property_value: exactMatch Orphanet:568

[Term]
id: MONDO:0018925
name: familial or sporadic hemiplegic migraine
def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569]
subset: gard_rare
subset: ordo_disease {source="Orphanet:569"}
synonym: "hemiplegic migraine" EXACT [MONDO:0023310]
xref: GARD:0010768 {source="MONDO:equivalentTo"}
xref: ICD10:G43.1 {source="Orphanet:569", source="ORDO:569/inclusion", source="ORDO:569/ntbt"}
xref: ICD9:346.30 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:569 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="GARD:0010768"}
xref: SCTID:59292006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005475 {source="linkedlifedata"} ! migraine with aura
is_a: MONDO:0020676 {source="Orphanet:569"} ! disease of central nervous system or retinal vasculature
relationship: excluded_subClassOf MONDO:0015642 {source="Orphanet:569"} ! benign partial infantile seizures
relationship: excluded_subClassOf MONDO:0015953 {source="Orphanet:569"} ! genetic central nervous system and retinal vascular disease
property_value: exactMatch http://identifiers.org/snomedct/59292006
property_value: exactMatch Orphanet:569
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine xsd:anyURI {source="GARD:0010768"}

[Term]
id: MONDO:0018926
name: human prion disease
def: "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." [Orphanet:56970]
subset: ordo_group_of_disorders {source="Orphanet:56970"}
synonym: "transmissible spongiform encephalopathy" EXACT [Orphanet:56970]
synonym: "TSE" EXACT [Orphanet:56970]
xref: ICD10:A81.0 {source="ORDO:56970/btnt", source="Orphanet:56970"}
xref: ICD10:A81.1 {source="ORDO:56970/btnt", source="MONDO:relatedTo", source="Orphanet:56970"}
xref: ICD10:A81.8 {source="ORDO:56970/btnt", source="Orphanet:56970"}
xref: ICD10:A81.9 {source="ORDO:56970/btnt", source="Orphanet:56970"}
xref: Orphanet:56970 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2825-0621"} ! neurodegenerative disease
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162534
property_value: exactMatch Orphanet:56970

[Term]
id: MONDO:0018927
name: SUNCT syndrome
def: "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." [Orphanet:57145]
subset: ordo_disease {source="Orphanet:57145"}
synonym: "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing" EXACT [Orphanet:57145]
synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" EXACT [GARD:0009257]
synonym: "SUNCT headache" EXACT [GARD:0009257]
xref: GARD:0009257 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G44.8 {source="ORDO:57145/ntbt", source="Orphanet:57145"}
xref: MedDRA:10061981 {source="ORDO:57145/e", source="Orphanet:57145"}
xref: MESH:D050798 {source="MONDO:equivalentTo", source="ORDO:57145/e", source="MONDO:ontobio", source="Orphanet:57145"}
xref: NCIT:C85174 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:57145 {source="MONDO:equivalentTo"}
xref: SCTID:725058003 {source="MONDO:equivalentTo"}
xref: UMLS:C1262087 {source="MONDO:equivalentTo", source="NCIT:C85174", source="ORDO:57145/e", source="Orphanet:57145"}
is_a: MONDO:0002254 {source="MONDOLEX:0018927", source="NCIT:C85174"} ! syndromic disease
is_a: MONDO:0015530 {source="MESH:D050798", source="Orphanet:57145"} ! trigeminal autonomic cephalalgia
property_value: exactMatch http://identifiers.org/meddra/10061981
property_value: exactMatch http://identifiers.org/mesh/D050798
property_value: exactMatch http://identifiers.org/snomedct/725058003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1262087
property_value: exactMatch NCIT:C85174
property_value: exactMatch Orphanet:57145

[Term]
id: MONDO:0018928
name: obsolete rare hepatic disease
def: "Rare liver disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:57146"}
synonym: "rare liver disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:57146 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN205315 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205315
property_value: exactMatch Orphanet:57146
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005154

[Term]
id: MONDO:0018929
name: medial condensing osteitis of the clavicle
subset: ordo_disease {source="Orphanet:57196"}
synonym: "condensing osteitis of the clavicle" EXACT [GARD:0010910]
synonym: "condensing osteitis of the medial clavicle" EXACT [GARD:0010910]
synonym: "osteitis condensans of the clavicle" EXACT [Orphanet:57196]
xref: GARD:0010910 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M85.3 {source="ORDO:57196/ntbt", source="Orphanet:57196"}
xref: Orphanet:57196 {source="MONDO:equivalentTo"}
xref: UMLS:CN230280 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018381 {source="Orphanet:57196"} ! osteochondrosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN230280
property_value: exactMatch Orphanet:57196

[Term]
id: MONDO:0018930
name: monosomy 21
def: "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." [Orphanet:574]
subset: ordo_malformation_syndrome {source="Orphanet:574"}
synonym: "21q deletion" RELATED [GARD:0010860]
synonym: "21q deletion syndrome" EXACT [Orphanet:574]
synonym: "21q monosomy" RELATED [GARD:0010860]
synonym: "21q- syndrome" EXACT [Orphanet:574]
synonym: "chromosome 21q deletion" RELATED [GARD:0010860]
synonym: "deletion 21q" RELATED [GARD:0010860]
synonym: "monosomy 21q" RELATED [GARD:0010860]
synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574]
synonym: "partial 21q monosomy" EXACT [Orphanet:574]
synonym: "partial monosomy 21q" RELATED [GARD:0010860]
xref: GARD:0010860 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q93.0 {source="ORDO:574/attributed", source="ORDO:574/ntbt", source="Orphanet:574"}
xref: MESH:C537108 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C36469 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"}
xref: Orphanet:574 {source="MONDO:equivalentTo"}
xref: UMLS:C0795875 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:574/e", source="Orphanet:574"}
is_a: MONDO:0020053 {source="Orphanet:574"} ! total autosomal monosomy
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:574"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/mesh/C537108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795875
property_value: exactMatch NCIT:C36469
property_value: exactMatch Orphanet:574

[Term]
id: MONDO:0018931
name: mucolipidosis type III
def: "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." [Orphanet:423461, PMID:6461005]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:423461"}
subset: ordo_disease {source="Orphanet:577"}
synonym: "ML 3" BROAD [OMIM:252600]
synonym: "ML 3 A" RELATED [GARD:0003806]
synonym: "ML 3 Alpha/Beta" RELATED [OMIM:252600]
synonym: "ML 3 alpha/beta" EXACT [Orphanet:423461]
synonym: "ML III alpha/beta" EXACT [Orphanet:423461]
synonym: "ML3" BROAD [GARD:0003806]
synonym: "MLIII" EXACT []
synonym: "mucolipidosis 3" BROAD [OMIM:252600]
synonym: "mucolipidosis 3 Alpha/Beta" RELATED [OMIM:252600]
synonym: "mucolipidosis 3 Alpha/Beta, atypical" RELATED [OMIM:252600]
synonym: "mucolipidosis 3A" RELATED [OMIM:252600]
synonym: "mucolipidosis III" BROAD [DOID:0080071]
synonym: "mucolipidosis III ALPHA/BETA" RELATED [OMIM:252600]
synonym: "mucolipidosis type 3 alpha/beta" EXACT [Orphanet:423461]
synonym: "mucolipidosis type 3A" RELATED [GARD:0003806]
synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461]
synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577]
xref: DOID:0080071 {source="MONDO:equivalentTo"}
xref: GARD:0003806 {source="MONDO:equivalentTo"}
xref: ICD10:E77.0 {source="Orphanet:577", source="ORDO:423461/attributed", source="ORDO:423461/ntbt", source="ORDO:577/inclusion", source="ORDO:577/ntbt", source="Orphanet:423461"}
xref: OMIM:252600 {source="Orphanet:577", source="MONDO:equivalentTo", source="DOID:0080071", source="ORDO:577/btnt", source="GARD:0003806", source="Orphanet:423461"}
xref: Orphanet:423461 {source="MONDO:equivalentTo", source="OMIM:252600"}
xref: Orphanet:577 {source="MONDO:equivalentTo", source="GARD:0003806", source="OMIM:252600"}
xref: SCTID:65764006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29"}
xref: UMLS:CN237499 {source="MONDO:equivalentTo"}
is_a: MONDO:0019248 {source="Orphanet:577"} ! mucolipidosis
is_a: MONDO:0019706 {source="Orphanet:577"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033788
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673375
property_value: exactMatch DOID:0080071
property_value: exactMatch http://identifiers.org/omim/252600
property_value: exactMatch http://identifiers.org/snomedct/65764006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237499
property_value: exactMatch Orphanet:423461
property_value: exactMatch Orphanet:577
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta xsd:string {source="GARD:0003806"}

[Term]
id: MONDO:0018932
name: cirrhotic cardiomyopathy
def: "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." [Orphanet:57777]
subset: ordo_disease {source="Orphanet:57777"}
xref: ICD10:I42.8 {source="Orphanet:57777", source="ORDO:57777/ntbt"}
xref: Orphanet:57777 {source="MONDO:equivalentTo"}
xref: SCTID:725416005 {source="MONDO:equivalentTo"}
xref: UMLS:C4511053 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016330 {source="Orphanet:57777"} ! non-familial hypertrophic cardiomyopathy
is_a: MONDO:0016338 {source="Orphanet:57777"} ! non-familial dilated cardiomyopathy
property_value: exactMatch http://identifiers.org/snomedct/725416005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511053
property_value: exactMatch Orphanet:57777

[Term]
id: MONDO:0018933
name: Mazabraud syndrome
def: "Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." [Orphanet:57782]
subset: ordo_malformation_syndrome {source="Orphanet:57782"}
synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782]
xref: ICD10:M85.0 {source="ORDO:57782/attributed", source="ORDO:57782/ntbt", source="Orphanet:57782"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:57782 {source="MONDO:equivalentTo"}
xref: SCTID:699251001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.87"}
xref: UMLS:CN205323 {source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="Orphanet:57782"} ! soft tissue neoplasm
is_a: MONDO:0017127 {source="MONDO:Entailed"} ! inherited soft tissue tumor
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0019708 {source="Orphanet:57782"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/699251001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205323
property_value: exactMatch Orphanet:57782

[Term]
id: MONDO:0018934
name: obsolete mucopolysaccharidosis type 1
is_obsolete: true
replaced_by: MONDO:0001586

[Term]
id: MONDO:0018935
name: hairy cell leukemia
def: "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." [Orphanet:58017]
subset: ordo_disease {source="Orphanet:58017"}
synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017]
synonym: "hairy cell leukemia" EXACT [MONDO:0006776, NCIT:C7402]
synonym: "HCL" EXACT [NCIT:C7402, ONCOTREE:HCL, Orphanet:58017]
synonym: "HCL-C" EXACT [Orphanet:58017]
synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017]
xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"}
xref: EFO:1000956 {source="MONDO:equivalentTo"}
xref: GARD:0006560 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C91.4 {source="DOID:285", source="ORDO:58017/ntbt", source="Orphanet:58017", source="EFO:1000956"}
xref: ICD10:C91.40 {source="DOID:285"}
xref: ICD9:202.4 {source="DOID:285"}
xref: ICDO:9940/3 {source="NCIT:C7402"}
xref: MedDRA:10019053 {source="ORDO:58017/e", source="Orphanet:58017"}
xref: MedDRA:10019055 {source="EFO:1000956"}
xref: MESH:D007943 {source="MONDO:equivalentTo", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017", source="EFO:1000956"}
xref: NCIT:C7402 {source="MONDO:equivalentTo", source="DOID:285", source="EFO:1000956"}
xref: ONCOTREE:HCL {source="MONDO:equivalentTo"}
xref: Orphanet:58017 {source="MONDO:equivalentTo"}
xref: SCTID:118613001 {source="MONDO:equivalentTo", source="DOID:285", source="MONDO:kboom-pr-0.74/0.45/0.13"}
xref: UMLS:C0023443 {source="MONDO:equivalentTo", source="NCIT:C7402", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017"}
is_a: MONDO:0004948 {source="DOID:285", source="EFO:1000956"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://identifiers.org/meddra/10019055
property_value: closeMatch http://identifiers.org/snomedct/188644003
property_value: closeMatch http://identifiers.org/snomedct/188653005
property_value: closeMatch http://identifiers.org/snomedct/190066005
property_value: closeMatch http://identifiers.org/snomedct/54087003
property_value: closeMatch http://identifiers.org/snomedct/85228003
property_value: exactMatch DOID:285
property_value: exactMatch http://identifiers.org/meddra/10019053
property_value: exactMatch http://identifiers.org/mesh/D007943
property_value: exactMatch http://identifiers.org/snomedct/118613001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023443
property_value: exactMatch NCIT:C7402
property_value: exactMatch Orphanet:58017

[Term]
id: MONDO:0018936
name: osteoblastoma (disease)
def: "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." [NCIT:P378]
subset: ordo_disease {source="Orphanet:58040"}
synonym: "giant osteoid osteoma" EXACT [NCIT:C3294]
synonym: "ossifying giant cell tumor" EXACT [NCIT:C3294]
synonym: "osteoblastoma" EXACT [MONDO:ambiguous, NCIT:C3294]
synonym: "osteoblastoma, benign" EXACT [NCIT:C3294]
xref: DOID:0060098 {source="MONDO:equivalentTo"}
xref: EFO:1000410 {source="MONDO:equivalentTo"}
xref: HP:0011846 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:D16.0 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.1 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.3 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.4 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.5 {source="MONDO:relatedTo", source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.6 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.7 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICD10:D16.8 {source="Orphanet:58040", source="ORDO:58040/btnt"}
xref: ICDO:9200/0 {source="NCIT:C3294"}
xref: MedDRA:10004430 {source="ORDO:58040/e", source="Orphanet:58040"}
xref: MESH:D018215 {source="ORDO:58040/e", source="Orphanet:58040", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3294 {source="MONDO:equivalentTo", source="kboom:pr0.85-conf15.45"}
xref: Orphanet:58040 {source="MONDO:equivalentTo"}
xref: UMLS:C0029417 {source="NCIT:C3294", source="ORDO:58040/e", source="Orphanet:58040", source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:0060098", source="NCIT:C3294"} ! bone benign neoplasm
property_value: exactMatch DOID:0060098
property_value: exactMatch http://identifiers.org/meddra/10004430
property_value: exactMatch http://identifiers.org/mesh/D018215
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029417
property_value: exactMatch NCIT:C3294
property_value: exactMatch Orphanet:58040

[Term]
id: MONDO:0018937
name: mucopolysaccharidosis type 3
def: "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." [Orphanet:581]
subset: ordo_disease {source="Orphanet:581"}
synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801]
synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [DOID:12801]
synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [DOID:12801]
synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [DOID:12801]
synonym: "MPS IIID - Sanfilippo syndrome D" NARROW [DOID:12801]
synonym: "MPS3" EXACT [Orphanet:581]
synonym: "MPSIII" EXACT [Orphanet:581]
synonym: "Mucopoly-saccharidosis type 3" RELATED [GARD:0003807]
synonym: "mucopolysaccharidosis III" RELATED [DOID:12801]
synonym: "mucopolysaccharidosis type III" EXACT [DOID:12801, MONDORULE:3, Orphanet:581]
synonym: "mucopolysaccharidosis type IIIA" NARROW [DOID:12801]
synonym: "mucopolysaccharidosis type IIIB" NARROW [DOID:12801]
synonym: "mucopolysaccharidosis, MPS-III" EXACT [DOID:12801]
synonym: "mucopolysaccharidosis, MPS-III-B" NARROW [DOID:12801]
synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" NARROW [DOID:12801]
synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [DOID:12801]
synonym: "NAGLU deficiency" NARROW [DOID:12801]
synonym: "Sanfilippo disease" EXACT [Orphanet:581]
synonym: "Sanfilippo syndrome" EXACT [NCIT:C61262]
synonym: "Sanfilippo syndrome A" NARROW [DOID:12801]
synonym: "Sanfilippo syndrome B" NARROW [DOID:12801]
synonym: "Sanfilippo's syndrome" EXACT [DOID:12801, MTHICD9_2006:277.5]
xref: DOID:12801 {source="MONDO:equivalentTo"}
xref: GARD:0003807 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E76.2 {source="ORDO:581/ntbt", source="Orphanet:581", source="ORDO:581/inclusion"}
xref: ICD10:E76.22 {source="DOID:12801"}
xref: MedDRA:10056890 {source="ORDO:581/e", source="Orphanet:581"}
xref: NCIT:C61262 {source="DOID:12801", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.62/0.23"}
xref: Orphanet:581 {source="DOID:12801", source="MONDO:equivalentTo"}
xref: SCTID:88393000 {source="DOID:12801", source="MONDO:equivalentTo"}
xref: UMLS:C0026706 {source="DOID:12801", source="MONDO:equivalentTo", source="ORDO:581/e", source="NCIT:C61262", source="Orphanet:581"}
xref: UMLS:CN205330 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0018937", source="NCIT:C61262"} ! syndromic disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016397 {source="Orphanet:581"} ! lysosomal disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:581"} ! neurometabolic disease
is_a: MONDO:0019249 {source="DOID:12801", source="NCIT:C61262", source="Orphanet:581", source="linkedlifedata"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:581"} ! lysosomal storage disease with skeletal involvement
property_value: closeMatch http://identifiers.org/snomedct/190936000
property_value: closeMatch http://identifiers.org/snomedct/254070003
property_value: closeMatch http://identifiers.org/snomedct/254071004
property_value: exactMatch DOID:12801
property_value: exactMatch http://identifiers.org/meddra/10056890
property_value: exactMatch http://identifiers.org/mesh/D009084
property_value: exactMatch http://identifiers.org/snomedct/88393000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205330
property_value: exactMatch NCIT:C61262
property_value: exactMatch Orphanet:581

[Term]
id: MONDO:0018938
name: mucopolysaccharidosis type 4
def: "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." [Orphanet:582]
subset: ordo_disease {source="Orphanet:582"}
synonym: "chondroosteodystrophy" NARROW [CSP2005:1849-6163, DOID:12804]
synonym: "deficiency of chondroitinsulphatase" EXACT [DOID:12804]
synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" NARROW [DOID:12804]
synonym: "galactosamine-6-sulfatase deficiency" NARROW [DOID:12804]
synonym: "Morquio A disease" NARROW [DOID:12804]
synonym: "Morquio disease" EXACT [Orphanet:582]
synonym: "Morquio syndrome" EXACT [MONDO:cjm, NCIT:C61263]
synonym: "Morquio syndrome A" NARROW [DOID:12804]
synonym: "MPS IV - Morquio syndrome A" NARROW [DOID:12804]
synonym: "MPS IV - Morquio syndrome B" NARROW [DOID:12804]
synonym: "MPS4" EXACT [Orphanet:582]
synonym: "MPSIV" EXACT [Orphanet:582]
synonym: "mucopolysaccharidosis IV" EXACT [NCIT:C61263]
synonym: "mucopolysaccharidosis type 4" EXACT [DOID:12804, MONDO:0001587]
synonym: "mucopolysaccharidosis type IV" EXACT [DOID:12804, MONDORULE:3, NCIT:C61263, Orphanet:582]
synonym: "mucopolysaccharidosis type IVA" NARROW [DOID:12804]
synonym: "mucopolysaccharidosis type IVB" NARROW [DOID:12804]
synonym: "mucopolysaccharidosis, MPS-IV" EXACT [DOID:12804]
synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804]
synonym: "Osteochondrodystrophy" NARROW [DOID:12804]
xref: DOID:12804 {source="MONDO:equivalentTo"}
xref: GARD:0012562 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E76.2 {source="ORDO:582/ntbt", source="Orphanet:582", source="ORDO:582/inclusion"}
xref: ICD10:E76.210 {source="DOID:12804"}
xref: ICD10:E76.219 {source="DOID:12804"}
xref: MedDRA:10028095 {source="ORDO:582/e", source="Orphanet:582"}
xref: NCIT:C61263 {source="MONDO:equivalentTo", source="DOID:12804", source="MONDO:kboom-pr-0.83/0.62/0.24"}
xref: Orphanet:582 {source="MONDO:equivalentTo"}
xref: SCTID:378007 {source="MONDO:equivalentTo", source="DOID:12804"}
xref: UMLS:C0026707 {source="MONDO:equivalentTo", source="DOID:12804", source="ORDO:582/e", source="Orphanet:582", source="NCIT:C61263"}
is_a: MONDO:0002254 {source="MONDOLEX:0018938", source="NCIT:C61263"} ! syndromic disease
is_a: MONDO:0019249 {source="DOID:12804", source="NCIT:C61263", source="Orphanet:582"} ! mucopolysaccharidosis
is_a: MONDO:0019706 {source="Orphanet:582"} ! lysosomal storage disease with skeletal involvement
is_a: MONDO:0020279 {source="Orphanet:582"} ! metabolic disease with corneal opacity
property_value: closeMatch http://identifiers.org/snomedct/124449003
property_value: closeMatch http://identifiers.org/snomedct/130197005
property_value: closeMatch http://identifiers.org/snomedct/190936000
property_value: closeMatch http://identifiers.org/snomedct/254074007
property_value: closeMatch http://identifiers.org/snomedct/78856008
property_value: exactMatch DOID:12804
property_value: exactMatch http://identifiers.org/meddra/10028095
property_value: exactMatch http://identifiers.org/mesh/D009085
property_value: exactMatch http://identifiers.org/snomedct/378007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0086651
property_value: exactMatch NCIT:C61263
property_value: exactMatch Orphanet:582

[Term]
id: MONDO:0018939
name: muscle-eye-brain disease
def: "Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth ( congenital muscular dystrophy ). Individuals with this condition are born with muscle weakness ( hypotonia ), severe nearsightedness ( myopia ), glaucoma , and brain abnormalities. They also have developmental delay and intellectual disability , a buildup of fluid in the brain ( hydrocephalus ), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person." [https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease]
subset: gard_rare {source="GARD:0000156"}
subset: ordo_disease {source="Orphanet:588"}
synonym: "MEB" RELATED [GARD:0000156]
synonym: "MEB syndrome" EXACT [Orphanet:588]
synonym: "muscle eye brain disease" RELATED [GARD:0000156]
synonym: "muscle-eye-brain syndrome" EXACT [Orphanet:588]
synonym: "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" NARROW [GARD:0000156]
synonym: "Santavuori congenital muscular dystrophy" EXACT [Orphanet:588]
xref: GARD:0000156 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:588", source="ORDO:588/attributed", source="ORDO:588/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:588 {source="MONDO:equivalentTo"}
xref: SCTID:277950001 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0016156 {source="Orphanet:588"} ! qualitative or quantitative defects of FKRP
is_a: MONDO:0016157 {source="Orphanet:588"} ! qualitative or quantitative defects of fukutin
is_a: MONDO:0016182 {source="Orphanet:588"} ! qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
is_a: MONDO:0016185 {source="Orphanet:588"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
is_a: MONDO:0017745 {source="Orphanet:588"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018132 {source="Orphanet:588"} ! congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
is_a: MONDO:0018286 {source="Orphanet:588"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:588"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:588"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020208 {source="Orphanet:588"} ! syndromic myopia
property_value: exactMatch http://identifiers.org/snomedct/277950001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457133
property_value: exactMatch Orphanet:588
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease xsd:anyURI {source="GARD:0000156"}

[Term]
id: MONDO:0018940
name: congenital myasthenic syndrome
def: "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." [Orphanet:590]
subset: gard_rare {source="GARD:0011902"}
subset: ordo_disease {source="Orphanet:590"}
synonym: "CMS" EXACT [Orphanet:590]
synonym: "congenital MG" RELATED [GARD:0000098]
synonym: "congenital myasthenia" RELATED [GARD:0011902]
synonym: "erb-Goldflam syndrome" RELATED [GARD:0000098]
synonym: "familial limb-girdle myasthenia" EXACT [DOID:3635]
synonym: "myasthenia gravis congenital" RELATED [GARD:0000098]
synonym: "myasthenia gravis pseudoparalytica" RELATED [GARD:0000098]
synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462]
xref: DOID:3635 {source="MONDO:equivalentTo"}
xref: GARD:0000098 {source="MONDO:equivalentTo"}
xref: GARD:0011902 {source="MONDO:equivalentTo"}
xref: ICD10:G70.2 {source="ORDO:590/specific", source="ORDO:590/e", source="Orphanet:590"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:V17.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D020294 {source="ORDO:590/e", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590"}
xref: NCIT:C84647 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:3635"}
xref: OMIMPS:601462 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: Orphanet:590 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: SCTID:230672006 {source="MONDO:equivalentTo", source="DOID:3635", source="MONDO:kboom-pr-0.99/0.73/5.42"}
xref: UMLS:C0751882 {source="NCIT:C84647", source="ORDO:590/e", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590"}
is_a: MONDO:0002254 {source="MONDOLEX:0018940", source="NCIT:C84647"} ! syndromic disease
is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Redundant", source="Orphanet:590", source="Orphanet:590/inferred", source="linkedlifedata/inferred"} ! neuromuscular junction disease
is_a: MONDO:0020169 {source="Orphanet:590"} ! rare disorder with ptosis
relationship: excluded_subClassOf MONDO:0020260 {source="Orphanet:590", source="https://github.com/Orphanet/ORDO/issues/17"} ! obsolete myasthenic syndrome with eye involvement
property_value: exactMatch DOID:3635
property_value: exactMatch http://identifiers.org/mesh/D020294
property_value: exactMatch http://identifiers.org/snomedct/230672006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751882
property_value: exactMatch NCIT:C84647
property_value: exactMatch Orphanet:590
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome xsd:anyURI {source="GARD:0011902"}

[Term]
id: MONDO:0018941
name: furuncular myiasis
def: "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." [Orphanet:591]
subset: ordo_disease {source="Orphanet:591"}
synonym: "furunculoid myiasis" EXACT [Orphanet:591]
synonym: "furunculous myiasis" EXACT [Orphanet:591]
xref: GARD:0002418 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B87.0 {source="MONDO:subClassOf", source="ORDO:591/ntbt", source="Orphanet:591"}
xref: MESH:C538194 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:591 {source="MONDO:equivalentTo"}
xref: UMLS:C2931766 {source="MONDO:equivalentTo", source="Orphanet:591", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0020568 {source="Orphanet:591"} ! cutaneous myiasis
property_value: exactMatch http://identifiers.org/mesh/C538194
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931766
property_value: exactMatch Orphanet:591

[Term]
id: MONDO:0018942
name: macrophagic myofasciitis
subset: gard_rare {source="GARD:0000176"}
subset: ordo_disease {source="Orphanet:592"}
synonym: "Macrophagic myofasciitis, childhood" RELATED [GARD:0000176]
synonym: "MMF" EXACT [Orphanet:592]
xref: GARD:0000176 {source="MONDO:equivalentTo"}
xref: ICD10:M60.8 {source="ORDO:592/ntbt", source="Orphanet:592"}
xref: MESH:C537829 {source="MONDO:equivalentTo", source="ORDO:592/e", source="MONDO:ontobio", source="Orphanet:592"}
xref: Orphanet:592 {source="MONDO:equivalentTo"}
xref: SCTID:718175009 {source="MONDO:kboom-pr-1.00/0.84/14.51", source="MONDO:equivalentTo"}
xref: UMLS:C2931639 {source="MONDO:equivalentTo", source="ORDO:592/e", source="Orphanet:592"}
is_a: MONDO:0016105 {source="Orphanet:592"} ! acquired skeletal muscle disease
property_value: exactMatch http://identifiers.org/mesh/C537829
property_value: exactMatch http://identifiers.org/snomedct/718175009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931639
property_value: exactMatch Orphanet:592
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis xsd:anyURI {source="GARD:0000176"}

[Term]
id: MONDO:0018943
name: myofibrillar myopathy (disease)
def: "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." [Orphanet:593]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:593"}
synonym: "Alpha Beta crystallinopathy (type)" RELATED [GARD:0010529]
synonym: "desmin related myopathy (former name)" RELATED [GARD:0010529]
synonym: "desmin storage myopathy (former name)" RELATED [GARD:0010529]
synonym: "Desminopathy (type)" RELATED [GARD:0010529]
synonym: "filaminopathy (type)" RELATED [GARD:0010529]
synonym: "myofibrillar myopathies" RELATED [MESH:C580316]
synonym: "myofibrillar myopathy" EXACT [MONDO:ambiguous, OMIMPS:601419]
synonym: "myotilinopathy (type)" RELATED [GARD:0010529]
synonym: "Protein surplus myopathy (former name)" RELATED [GARD:0010529]
synonym: "Zaspopathy (type)" RELATED [GARD:0010529]
xref: DOID:0080307 {source="MONDO:equivalentTo"}
xref: GARD:0010529 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0003715 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:G71.8 {source="ORDO:593/attributed", source="ORDO:593/ntbt", source="Orphanet:593"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C580316 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C83009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.34"}
xref: OMIMPS:601419 {source="MONDO:equivalentTo", source="DOID:0080307", source="DC:0000305"}
xref: Orphanet:593 {source="MONDO:equivalentTo"}
xref: SCTID:699269005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2678065 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C83009", source="MONDO:equivalentTo", source="Orphanet:593"}
is_a: MONDO:0002921 {source="MESH:C580316"} ! congenital structural myopathy
is_a: MONDO:0016110 {source="Orphanet:593"} ! non-dystrophic myopathy
property_value: exactMatch DOID:0080307
property_value: exactMatch http://identifiers.org/mesh/C580316
property_value: exactMatch http://identifiers.org/snomedct/699269005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2678065
property_value: exactMatch NCIT:C83009
property_value: exactMatch Orphanet:593

[Term]
id: MONDO:0018944
name: gestational trophoblastic neoplasm
def: "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." [NCIT:C4699]
subset: ordo_group_of_disorders {source="Orphanet:59305"}
synonym: "gestational trophoblastic disease" EXACT [NCIT:C4699]
synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699]
synonym: "gestational trophoblastic tumor" EXACT [NCIT:C4699]
synonym: "GTN" EXACT [Orphanet:59305]
synonym: "GTT" EXACT [NCIT:C4699]
synonym: "hydatidiform mole" RELATED [DOID:3590]
synonym: "molar pregnancy" RELATED [CSP2005:2403-0989, DOID:3590, NCIT:C3110]
xref: DOID:3590 {source="MONDO:equivalentTo"}
xref: GARD:0006498 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:O01 {source="DOID:3590"}
xref: ICD10:O01.0 {source="DOID:3590"}
xref: ICD10:O01.9 {source="DOID:3590"}
xref: ICD9:630 {source="DOID:3590"}
xref: MedDRA:10061988 {source="Orphanet:59305", source="ORDO:59305/e"}
xref: NCIT:C4699 {source="MONDO:equivalentTo", source="DOID:3590"}
xref: Orphanet:59305 {source="MONDO:equivalentTo"}
xref: SCTID:609519004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.51", source="DOID:3590"}
xref: UMLS:C1135868 {source="Orphanet:59305", source="MONDO:equivalentTo", source="NCIT:C4699", source="ORDO:59305/e", source="DOID:3590"}
is_a: MONDO:0002872 {source="DOID:3590", source="NCIT:C4699"} ! trophoblastic neoplasm
is_a: MONDO:0016784 {source="MONDO:Redundant", source="Orphanet:59305", source="linkedlifedata"} ! gestational trophoblastic disease
intersection_of: MONDO:0002872 ! trophoblastic neoplasm
intersection_of: MONDO:0016784 ! gestational trophoblastic disease
property_value: closeMatch http://identifiers.org/snomedct/123300001
property_value: closeMatch http://identifiers.org/snomedct/156085008
property_value: closeMatch http://identifiers.org/snomedct/189856005
property_value: closeMatch http://identifiers.org/snomedct/198610008
property_value: closeMatch http://identifiers.org/snomedct/198611007
property_value: closeMatch http://identifiers.org/snomedct/235323008
property_value: closeMatch http://identifiers.org/snomedct/236118006
property_value: closeMatch http://identifiers.org/snomedct/237251001
property_value: closeMatch http://identifiers.org/snomedct/367455000
property_value: closeMatch http://identifiers.org/snomedct/41491009
property_value: closeMatch http://identifiers.org/snomedct/416441004
property_value: closeMatch http://identifiers.org/snomedct/417044008
property_value: closeMatch http://identifiers.org/snomedct/417475006
property_value: closeMatch http://identifiers.org/snomedct/48430004
property_value: closeMatch http://identifiers.org/snomedct/609517002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278796
property_value: closeMatch NCIT:C7887
property_value: exactMatch DOID:3590
property_value: exactMatch http://identifiers.org/meddra/10061988
property_value: exactMatch http://identifiers.org/mesh/D031901
property_value: exactMatch http://identifiers.org/snomedct/609519004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135868
property_value: exactMatch NCIT:C4699
property_value: exactMatch Orphanet:59305

[Term]
id: MONDO:0018945
name: McLeod neuroacanthocytosis syndrome
def: "McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." [Orphanet:59306]
subset: gard_rare {source="GARD:0010731"}
subset: ordo_disease {source="Orphanet:59306"}
synonym: "MCLDS" RELATED [MONDO:Lexical, OMIM:300842]
synonym: "McLeod phenotype" RELATED [OMIM:300842]
synonym: "McLeod syndrome" EXACT [MONDO:0010445, MONDO:Lexical, OMIM:300842]
synonym: "McLeod syndrome with chronic granulomatous disease" RELATED [OMIM:300842]
synonym: "McLeod syndrome; MCLDS" RELATED [OMIM:300842]
synonym: "MLS" EXACT [Orphanet:59306]
synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842]
synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306]
xref: GARD:0010731 {source="MONDO:equivalentTo"}
xref: HGNC:12811 {source="GARD:0010731"}
xref: ICD10:G10 {source="Orphanet:59306", source="ORDO:59306/attributed", source="ORDO:59306/ntbt"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C564038 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:300842 {source="MONDO:subClassOf", source="Orphanet:59306", source="MONDO:equivalentTo", source="ORDO:59306/ntbt"}
xref: Orphanet:59306 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:300842"}
xref: SCTID:234411007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/4.87"}
is_a: MONDO:0016337 {source="Orphanet:59306"} ! syndrome associated with dilated cardiomyopathy
is_a: MONDO:0016406 {source="Orphanet:59306"} ! other metabolic disease with epilepsy
is_a: MONDO:0016987 {source="Orphanet:59306"} ! neuroacanthocytosis
is_a: MONDO:0019058 {source="Orphanet:59306"} ! neurometabolic disease
is_a: MONDO:0020103 {source="Orphanet:59306"} ! constitutional hemolytic anemia due to acanthocytosis
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398568
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3151853
property_value: exactMatch http://identifiers.org/mesh/C564038
property_value: exactMatch http://identifiers.org/omim/300842
property_value: exactMatch http://identifiers.org/snomedct/234411007
property_value: exactMatch Orphanet:59306
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome xsd:anyURI {source="GARD:0010731"}

[Term]
id: MONDO:0018946
name: rhombencephalosynapsis
def: "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." [Orphanet:59315]
subset: ordo_malformation_syndrome {source="Orphanet:59315"}
xref: ICD10:Q04.3 {source="ORDO:59315/ntbt", source="Orphanet:59315"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:59315 {source="MONDO:equivalentTo"}
xref: SCTID:442300000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1866130 {source="MONDO:equivalentTo", source="ORDO:59315/e", source="Orphanet:59315"}
is_a: MONDO:0015915 {source="Orphanet:59315"} ! cerebellar malformation
property_value: exactMatch http://identifiers.org/snomedct/442300000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1866130
property_value: exactMatch Orphanet:59315

[Term]
id: MONDO:0018947
name: centronuclear myopathy
def: "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." [Orphanet:595]
subset: gard_rare {source="GARD:0000101"}
subset: ordo_group_of_disorders {source="Orphanet:595"}
synonym: "CNM" EXACT [Orphanet:595]
synonym: "myopathy, centronuclear" EXACT [OMIMPS:160150]
synonym: "myopathy, myotubular" RELATED [GARD:0000101]
synonym: "myotubular myopathy" EXACT [DOID:14717, MTHICD9_2006:359.0]
xref: DOID:14717 {source="MONDO:equivalentTo"}
xref: GARD:0000101 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="ORDO:595/inclusion", source="ORDO:595/ntbt", source="Orphanet:595"}
xref: OMIMPS:160150 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:595 {source="DOID:14717", source="MONDO:equivalentTo"}
xref: SCTID:82077006 {source="DOID:14717", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175709 {source="DOID:14717", source="MONDO:equivalentTo", source="Orphanet:595"}
is_a: MONDO:0019952 {source="Orphanet:595"} ! congenital myopathy
relationship: excluded_subClassOf MONDO:0020169 {source="Orphanet:595"} ! rare disorder with ptosis
property_value: closeMatch http://identifiers.org/snomedct/193223007
property_value: closeMatch Orphanet:69186
property_value: closeMatch Orphanet:69189
property_value: exactMatch DOID:14717
property_value: exactMatch http://identifiers.org/snomedct/82077006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175709
property_value: exactMatch Orphanet:595
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy xsd:anyURI {source="GARD:0000101"}

[Term]
id: MONDO:0018948
name: multiminicore myopathy
def: "Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:598]
subset: ordo_disease {source="Orphanet:598"}
synonym: "MmD" EXACT [Orphanet:598]
synonym: "multicore disease" EXACT [GARD:0009130]
synonym: "multicore myopathy" EXACT [GARD:0009130]
synonym: "multiminicore disease" EXACT [Orphanet:598]
xref: GARD:0009130 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:598", source="ORDO:598/inclusion", source="ORDO:598/ntbt"}
xref: Orphanet:598 {source="MONDO:equivalentTo"}
xref: SCTID:55133004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
xref: UMLS:C0270962 {source="Orphanet:598", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset"}
is_a: MONDO:0015765 {source="Orphanet:598"} ! congenital myopathy with cores
is_a: MONDO:0016197 {source="Orphanet:598"} ! qualitative or quantitative defects of selenoprotein N1
is_a: MONDO:0018753 {source="Orphanet:598"} ! rare disease with malignant hyperthermia
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/snomedct/55133004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270962
property_value: exactMatch Orphanet:598

[Term]
id: MONDO:0018949
name: distal myopathy
def: "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." [Orphanet:599]
subset: ordo_group_of_disorders {source="Orphanet:599"}
synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599]
synonym: "distal myopathy" EXACT [DOID:11720]
synonym: "Miyoshi muscular dystrophy" EXACT [DOID:11720]
xref: DOID:11720 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:599", source="DOID:11720", source="ORDO:599/inclusion", source="ORDO:599/ntbt"}
xref: NCIT:C84675 {source="DOID:11720", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:599 {source="MONDO:equivalentTo"}
xref: SCTID:58795000 {source="DOID:11720", source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0751336 {source="Orphanet:599", source="DOID:11720", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84675"}
is_a: MONDO:0020121 {source="DOID:11720", source="NCIT:C84675", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy
property_value: closeMatch http://identifiers.org/mesh/D049310
property_value: closeMatch Orphanet:5448
property_value: exactMatch DOID:11720
property_value: exactMatch http://identifiers.org/snomedct/58795000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751336
property_value: exactMatch NCIT:C84675
property_value: exactMatch Orphanet:599

[Term]
id: MONDO:0018950
name: 3-methylcrotonyl-CoA carboxylase deficiency
def: "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." [Orphanet:6]
subset: ordo_disease {source="Orphanet:6"}
synonym: "3-MCC deficiency" EXACT [NCIT:C98674]
synonym: "3-methylcrotonylglycinuria" EXACT [DOID:0050710, Orphanet:6]
synonym: "3MCC deficiency" EXACT [DOID:0050710]
synonym: "BMCC deficiency" EXACT [DOID:0050710]
synonym: "MCC deficiency" EXACT [Orphanet:6]
synonym: "MCCD" EXACT [Orphanet:6]
synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674]
synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200]
xref: DOID:0050710 {source="MONDO:equivalentTo"}
xref: GARD:0010954 {source="MONDO:equivalentTo"}
xref: ICD10:E71.1 {source="Orphanet:6", source="ORDO:6/attributed", source="ORDO:6/ntbt"}
xref: NCIT:C98674 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:210200 {source="MONDO:equivalentTo"}
xref: Orphanet:6 {source="MONDO:equivalentTo"}
xref: SCTID:13144005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.67"}
xref: UMLS:C0268600 {source="Orphanet:6", source="MONDO:equivalentTo", source="NCIT:C98674", source="ORDO:6/e"}
xref: UMLS:CN239165 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019215 {source="Orphanet:6"} ! classic organic aciduria
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch DOID:0050710
property_value: exactMatch http://identifiers.org/snomedct/13144005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239165
property_value: exactMatch NCIT:C98674
property_value: exactMatch Orphanet:6

[Term]
id: MONDO:0018951
name: distal myopathy with vocal cord weakness
def: "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." [Orphanet:600]
subset: ordo_disease {source="Orphanet:600"}
synonym: "distal myopathy 2" RELATED [GARD:0001887]
synonym: "MATR3-related distal myopathy" EXACT [Orphanet:600]
synonym: "MPD2" RELATED [GARD:0001887]
synonym: "VCPDM" EXACT [Orphanet:600]
synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600]
xref: GARD:0001887 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:600", source="ORDO:600/attributed", source="ORDO:600/ntbt"}
xref: Orphanet:600 {source="MONDO:equivalentTo"}
xref: UMLS:CN205357 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016108 {source="Orphanet:600"} ! autosomal dominant distal myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205357
property_value: exactMatch Orphanet:600

[Term]
id: MONDO:0018952
name: argyria
def: "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." [Orphanet:60014]
subset: ordo_disease {source="Orphanet:60014"}
synonym: "Silver staining" EXACT [Orphanet:60014]
xref: ICD10:T56.8 {source="Orphanet:60014", source="ORDO:60014/ntbt"}
xref: MedDRA:10003094 {source="ORDO:60014/e", source="Orphanet:60014"}
xref: MESH:D001129 {source="ORDO:60014/e", source="Orphanet:60014", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:60014 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:60014"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10003094
property_value: exactMatch http://identifiers.org/mesh/D001129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003782
property_value: exactMatch Orphanet:60014

[Term]
id: MONDO:0018953
name: parietal foramina
def: "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." [Orphanet:60015]
subset: ordo_malformation_syndrome {source="Orphanet:60015"}
synonym: "Caitlin marks" EXACT [DOID:0060285]
synonym: "catlin marks" EXACT [Orphanet:60015]
synonym: "enlarged parietal foramina" EXACT [DOID:0060285]
synonym: "fenestrae parietales symmetricae" EXACT [Orphanet:60015]
synonym: "foramina parietalia permagna" EXACT [Orphanet:60015]
synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, Orphanet:60015]
synonym: "symmetric parietal foramina" EXACT [Orphanet:60015]
xref: DOID:0060285 {source="MONDO:equivalentTo"}
xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"}
xref: ICD10:Q75.8 {source="Orphanet:60015", source="ORDO:60015/attributed", source="ORDO:60015/ntbt"}
xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"}
xref: OMIMPS:168500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"}
xref: SCTID:718099006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.16"}
is_a: MONDO:0018075 {source="DOID:0060285", source="MESH:C566826/inferred"} ! neural tube defect
is_a: MONDO:0019709 {source="Orphanet:60015"} ! cleidocranial dysplasia and isolated cranial ossification defect
is_a: MONDO:0020018 {source="Orphanet:60015"} ! cranial malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868598
property_value: exactMatch DOID:0060285
property_value: exactMatch http://identifiers.org/mesh/C566826
property_value: exactMatch http://identifiers.org/snomedct/718099006
property_value: exactMatch Orphanet:60015

[Term]
id: MONDO:0018954
name: Loeys-Dietz syndrome
def: "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." [Orphanet:60030]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:60030"}
synonym: "aortic aneurysm syndrome due to TGF-beta receptors anomalies" EXACT [Orphanet:60030]
synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788]
xref: DOID:0050466 {source="MONDO:equivalentTo"}
xref: GARD:0010788 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.4 {source="ORDO:60030/attributed", source="ORDO:60030/ntbt", source="Orphanet:60030"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D055947 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: NCIT:C75006 {source="DOID:0050466", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:609192 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:60030 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: SCTID:446263001 {source="DOID:0050466", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2697932 {source="DOID:0050466", source="MONDO:equivalentTo", source="Orphanet:60030", source="NCIT:C75006"}
is_a: MONDO:0000426 {source="DOID:0050466", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDOLEX:0018954", source="NCIT:C75006"} ! syndromic disease
is_a: MONDO:0017310 {source="Orphanet:60030"} ! Marfan and Marfan-related disorder
is_a: MONDO:0017311 {source="Orphanet:60030"} ! rare disease with thoracic aortic aneurysm and aortic dissection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836635
property_value: exactMatch DOID:0050466
property_value: exactMatch http://identifiers.org/mesh/D055947
property_value: exactMatch http://identifiers.org/snomedct/446263001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2697932
property_value: exactMatch NCIT:C75006
property_value: exactMatch Orphanet:60030

[Term]
id: MONDO:0018955
name: recurrent respiratory papillomatosis
def: "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." [Orphanet:60032]
subset: gard_rare {source="GARD:0000111"}
subset: ordo_disease {source="Orphanet:60032"}
synonym: "adult-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111]
synonym: "AORRP (type)" RELATED [GARD:0000111]
synonym: "JORRP (type)" RELATED [GARD:0000111]
synonym: "juvenile laryngeal papilloma" RELATED [GARD:0000111]
synonym: "juvenile-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111]
synonym: "laryngeal papilloma, recurrent" RELATED [GARD:0000111]
synonym: "recurrent respiratory papillomatosis" EXACT [NCIT:C128637]
synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111]
synonym: "RRP" EXACT [GARD:0000111, NCIT:C128637]
xref: GARD:0000111 {source="MONDO:equivalentTo"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059314 {source="Orphanet:60032", source="ORDO:60032/e"}
xref: MESH:C535297 {source="Orphanet:60032", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:60032/e"}
xref: NCIT:C128637 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:60032 {source="MONDO:equivalentTo"}
xref: SCTID:472827002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1168198 {source="Orphanet:60032", source="MONDO:equivalentTo", source="NCIT:C128637", source="ORDO:60032/e"}
is_a: MONDO:0005087 {source="Orphanet:60032"} ! respiratory system disease
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0021098 {source="NCIT:C128637"} ! papillomatosis
is_a: MONDO:0024623 {source="Orphanet:60032"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10059314
property_value: exactMatch http://identifiers.org/mesh/C535297
property_value: exactMatch http://identifiers.org/snomedct/472827002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168198
property_value: exactMatch NCIT:C128637
property_value: exactMatch Orphanet:60032
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis xsd:anyURI {source="GARD:0000111"}

[Term]
id: MONDO:0018956
name: idiopathic bronchiectasis
def: "#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033]
subset: ordo_disease {source="Orphanet:60033"}
xref: ICD10:J47 {source="MONDO:subClassOf", source="Orphanet:60033", source="ORDO:60033/attributed", source="ORDO:60033/ntbt"}
xref: Orphanet:60033 {source="MONDO:equivalentTo"}
xref: SCTID:233629001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0339985 {source="Orphanet:60033", source="MONDO:equivalentTo", source="ORDO:60033/e"}
is_a: MONDO:0004822 {source="linkedlifedata", source="linkedlifedata/inferred"} ! bronchiectasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/233629001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339985
property_value: exactMatch Orphanet:60033

[Term]
id: MONDO:0018957
name: pudendal neuralgia
def: "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." [Orphanet:60039]
subset: gard_rare {source="GARD:0010713"}
subset: ordo_disease {source="Orphanet:60039"}
synonym: "Alcock syndrome" EXACT [Orphanet:60039]
synonym: "neuralgia of pudendal nerve" EXACT [MONDO:design_pattern]
synonym: "pudendal algia" EXACT [Orphanet:60039]
synonym: "pudendal nerve entrapment syndrome" EXACT [Orphanet:60039]
synonym: "pudendal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "pudendal neuralgia by pudendal nerve entrapment" EXACT [Orphanet:60039]
synonym: "Pudendalgia" EXACT [Orphanet:60039]
xref: GARD:0010713 {source="MONDO:equivalentTo"}
xref: ICD10:M79.2 {source="ORDO:60039/ntbt", source="Orphanet:60039"}
xref: ICD9:729.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D060545 {source="ORDO:60039/e", source="MONDO:equivalentTo", source="Orphanet:60039", source="MONDO:ontobio"}
xref: Orphanet:60039 {source="MONDO:equivalentTo"}
xref: SCTID:427972000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1997249 {source="ORDO:60039/e", source="MONDO:equivalentTo", source="Orphanet:60039"}
xref: UMLS:C3178970 {source="MONDO:equivalentTo", source="Orphanet:60039", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:CN226268 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015923 {source="Orphanet:60039"} ! acquired peripheral neuropathy
is_a: MONDO:0021667 ! neuralgia
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch http://identifiers.org/mesh/D060545
property_value: exactMatch http://identifiers.org/snomedct/427972000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997249
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3178970
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226268
property_value: exactMatch Orphanet:60039
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia xsd:anyURI {source="GARD:0010713"}

[Term]
id: MONDO:0018958
name: nemaline myopathy
def: "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." [Orphanet:607]
subset: ordo_group_of_disorders {source="Orphanet:607"}
synonym: "congenital rod disease" RELATED [GARD:0012033]
synonym: "NEM" EXACT [Orphanet:607]
synonym: "nemaline body disease" EXACT [DOID:3191, MTHICD9_2006:359.0]
synonym: "nemaline rod disease" RELATED [GARD:0012033]
synonym: "nemaline rod myopathy" EXACT [DOID:3191, Orphanet:607]
synonym: "NM" EXACT [Orphanet:607]
synonym: "Rod body disease" RELATED [GARD:0012033]
synonym: "rod myopathy" EXACT [DOID:3191]
synonym: "Rod-body myopathy" RELATED [GARD:0012033]
xref: DOID:3191 {source="MONDO:equivalentTo"}
xref: GARD:0012033 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="ORDO:607/ntbt", source="DOID:3191", source="Orphanet:607", source="ORDO:607/inclusion"}
xref: MESH:D017696 {source="MONDO:equivalentTo", source="ORDO:607/e", source="DOID:3191", source="Orphanet:607"}
xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"}
xref: Orphanet:607 {source="MONDO:equivalentTo", source="DOID:3191"}
xref: SCTID:75072002 {source="MONDO:equivalentTo", source="DOID:3191", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0206157 {source="MONDO:equivalentTo", source="ORDO:607/e", source="DOID:3191", source="Orphanet:607"}
is_a: MONDO:0002921 {source="DOID:3191", source="MESH:D017696"} ! congenital structural myopathy
is_a: MONDO:0016110 {source="Orphanet:607", source="Orphanet:607/inferred"} ! non-dystrophic myopathy
property_value: exactMatch DOID:3191
property_value: exactMatch http://identifiers.org/mesh/D017696
property_value: exactMatch http://identifiers.org/snomedct/75072002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206157
property_value: exactMatch Orphanet:607

[Term]
id: MONDO:0018959
name: potassium-aggravated myotonia
def: "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." [Orphanet:612]
subset: ordo_group_of_disorders {source="Orphanet:612"}
synonym: "K+-aggravated myotonia" EXACT [Orphanet:612]
synonym: "K-aggravated myotonia" EXACT [Orphanet:612]
synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390]
synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390]
synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390]
synonym: "Myotonia Fluctuans" RELATED [OMIM:608390]
synonym: "Myotonia Permanens" RELATED [OMIM:608390]
synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390]
synonym: "PAM" EXACT [Orphanet:612]
synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788]
synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390]
xref: GARD:0004459 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.1 {source="Orphanet:612", source="ORDO:612/attributed", source="ORDO:612/ntbt"}
xref: MESH:C538353 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"}
xref: MONDO:0012026 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C122788 {source="MONDO:kboom-pr-0.84/0.66/0.06", source="MONDO:equivalentTo"}
xref: OMIM:608390 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"}
xref: Orphanet:612 {source="OMIM:608390", source="MONDO:equivalentTo"}
xref: SCTID:702355008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931826 {source="ORDO:612/e", source="OMIM:608390", source="Orphanet:612", source="MONDO:equivalentTo", source="NCIT:C122788"}
is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome
is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0856123
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3149517
property_value: exactMatch http://identifiers.org/mesh/C538353
property_value: exactMatch http://identifiers.org/omim/608390
property_value: exactMatch http://identifiers.org/snomedct/702355008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931826
property_value: exactMatch NCIT:C122788
property_value: exactMatch Orphanet:612

[Term]
id: MONDO:0018960
name: congenital primary megaureter
def: "Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." [Orphanet:617]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:617"}
synonym: "CGM" RELATED [GARD:0000219]
synonym: "congenital giant megaureter" RELATED [GARD:0000219]
synonym: "congenital megalo-ureter" RELATED [GARD:0001492]
synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617]
xref: GARD:0000219 {source="MONDO:equivalentTo"}
xref: GARD:0001492 {source="MONDO:equivalentTo"}
xref: ICD10:Q62.2 {source="ORDO:617/specific", source="ORDO:617/e", source="Orphanet:617"}
xref: Orphanet:617 {source="MONDO:equivalentTo"}
xref: SCTID:717459000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015934 {source="Orphanet:617"} ! non-syndromic urogenital tract malformation of male and female
is_a: MONDO:0019720 {source="Orphanet:617"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/717459000
property_value: exactMatch Orphanet:617
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter xsd:anyURI {source="GARD:0001492"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter xsd:anyURI {source="GARD:0000219"}

[Term]
id: MONDO:0018961
name: familial melanoma
def: "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." [Orphanet:618]
subset: gard_rare
subset: ordo_disease {source="Orphanet:618"}
synonym: "hereditary melanoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:6846 {source="MONDO:equivalentTo"}
xref: GARD:0003460 {source="MONDO:equivalentTo"}
xref: ICD10:C43.0 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.1 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.2 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.3 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.4 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.5 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.6 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.7 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: ICD10:C43.8 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"}
xref: NCIT:C8498 {source="DOID:6846", source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="MONDO:equivalentTo"}
xref: UMLS:C2314896 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:618"}
is_a: MONDO:0005105 ! melanoma (disease)
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
intersection_of: MONDO:0005105 ! melanoma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:618"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:618"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020177 {source="Orphanet:618"} ! pigmented palpebral tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1512419
property_value: exactMatch DOID:6846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2314896
property_value: exactMatch NCIT:C8498
property_value: exactMatch Orphanet:618

[Term]
id: MONDO:0018962
name: common mesentery
subset: ordo_morphological_anomaly {source="Orphanet:620"}
synonym: "universal mesentery" EXACT [Orphanet:620]
xref: ICD10:Q43.3 {source="Orphanet:620", source="ORDO:620/inclusion", source="ORDO:620/ntbt"}
xref: Orphanet:620 {source="MONDO:equivalentTo"}
xref: SCTID:52159006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0266235 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0015211 {source="Orphanet:620"} ! non-syndromic intestinal malformation
property_value: exactMatch http://identifiers.org/snomedct/52159006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266235
property_value: exactMatch Orphanet:620

[Term]
id: MONDO:0018963
name: hereditary methemoglobinemia
def: "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." [NCIT:C98898]
subset: ordo_disease {source="Orphanet:621"}
synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621]
synonym: "congenital methemoglobinemia" EXACT [Orphanet:621]
synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002659 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D74.0 {source="Orphanet:621", source="ORDO:621/attributed", source="ORDO:621/ntbt"}
xref: MESH:C580280 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C98898 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:621 {source="MONDO:equivalentTo"}
xref: SCTID:267550008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0272087 {source="Orphanet:621", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C98898"}
is_a: MONDO:0001117 {source="MESH:C580280", source="MONDO:Redundant", source="NCIT:C98898", source="OWLReasoner:2017", source="linkedlifedata"} ! methemoglobinemia
is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:621", source="Orphanet:621/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="MONDO:Redundant", source="Orphanet:621", source="linkedlifedata"} ! inherited hemoglobinopathy
intersection_of: MONDO:0001117 ! methemoglobinemia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C580280
property_value: exactMatch http://identifiers.org/snomedct/267550008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272087
property_value: exactMatch NCIT:C98898
property_value: exactMatch Orphanet:621

[Term]
id: MONDO:0018964
name: homocystinuria without methylmalonic aciduria
def: "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." [Orphanet:622]
subset: ordo_disease {source="Orphanet:622"}
synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622]
synonym: "homocystinuria without methylmalonic aciduria" EXACT []
synonym: "methylcobalamin deficiency" EXACT [Orphanet:622]
xref: ICD10:E72.1 {source="Orphanet:622", source="ORDO:622/attributed", source="ORDO:622/ntbt"}
xref: Orphanet:622 {source="MONDO:equivalentTo"}
xref: SCTID:721225009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303479 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004737 {source="linkedlifedata"} ! homocystinuria (disease)
is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease
is_a: MONDO:0019058 {source="Orphanet:622"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019220 {source="Orphanet:622"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0020109 {source="Orphanet:622"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
property_value: exactMatch http://identifiers.org/snomedct/721225009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303479
property_value: exactMatch Orphanet:622

[Term]
id: MONDO:0018965
name: Alport syndrome
def: "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." [NCIT:C34842]
subset: ordo_disease {source="Orphanet:63"}
synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63]
synonym: "Alport's syndrome" EXACT [NCIT:C34842]
synonym: "hereditary nephritis" EXACT [DOID:10983, NCIT:C34842]
xref: DOID:10983 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:63/inclusion", source="ORDO:63/ntbt", source="Orphanet:63"}
xref: ICD10:Q87.81 {source="MONDO:equivalentTo"}
xref: MedDRA:10001843 {source="Orphanet:63", source="ORDO:63/e"}
xref: NCIT:C34842 {source="MONDO:kboom-pr-0.89/0.78/0.06", source="MONDO:equivalentTo"}
xref: OMIMPS:301050 {source="MONDO:equivalentTo"}
xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"}
xref: UMLS:C1567741 {source="MONDO:equivalentTo", source="NCIT:C34842", source="Orphanet:63", source="ORDO:63/e"}
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019589 {source="Orphanet:63"} ! syndromic genetic deafness
is_a: MONDO:0019723 {source="Orphanet:63"} ! disease of glomerular basement membrane
is_a: MONDO:0020230 {source="Orphanet:63"} ! renal disease with cataract
is_a: MONDO:0020237 {source="Orphanet:63"} ! lens shape anomaly
property_value: closeMatch http://identifiers.org/snomedct/57333009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027706
property_value: exactMatch DOID:10983
property_value: exactMatch http://identifiers.org/meddra/10001843
property_value: exactMatch http://identifiers.org/mesh/D009394
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567741
property_value: exactMatch NCIT:C34842
property_value: exactMatch Orphanet:63

[Term]
id: MONDO:0018966
name: obsolete isolated growth hormone deficiency
is_obsolete: true
replaced_by: MONDO:0000050

[Term]
id: MONDO:0018967
name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
comment: Editor note: classified as both isolated and syndromic in ORDO
subset: ordo_clinical_subtype {source="Orphanet:632"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="Orphanet:632", source="ORDO:632/attributed", source="ORDO:632/ntbt"}
xref: Orphanet:632 {source="MONDO:equivalentTo"}
is_a: MONDO:0010615 {source="Orphanet:632"} ! isolated growth hormone deficiency type III
is_a: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0015977 {source="MONDO:cjm"} ! agammaglobulinemia
relationship: excluded_subClassOf MONDO:0016463 {source="Orphanet:632"} ! syndromic agammaglobulinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0472813
property_value: exactMatch Orphanet:632

[Term]
id: MONDO:0018968
name: iniencephaly
def: "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." [Orphanet:63259]
subset: gard_rare {source="GARD:0010506"}
subset: ordo_morphological_anomaly {source="Orphanet:63259"}
xref: COHD:378848 {source="MONDO:equivalentTo"}
xref: GARD:0010506 {source="MONDO:equivalentTo"}
xref: ICD10:Q00.2 {source="ORDO:63259/specific", source="ORDO:63259/e", source="Orphanet:63259", source="MONDO:equivalentTo"}
xref: ICD9:740.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10022034 {source="ORDO:63259/e", source="Orphanet:63259"}
xref: NCIT:C124549 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:63259 {source="MONDO:equivalentTo"}
xref: SCTID:2438005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0152234 {source="ORDO:63259/e", source="Orphanet:63259", source="MONDO:equivalentTo", source="NCIT:C124549"}
is_a: MONDO:0017059 {source="Orphanet:63259"} ! neural tube closure defect
property_value: exactMatch http://identifiers.org/meddra/10022034
property_value: exactMatch http://identifiers.org/snomedct/2438005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152234
property_value: exactMatch NCIT:C124549
property_value: exactMatch Orphanet:63259
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10506/iniencephaly xsd:anyURI {source="GARD:0010506"}

[Term]
id: MONDO:0018969
name: craniorachischisis (disease)
def: "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." [Orphanet:63260]
subset: ordo_morphological_anomaly {source="Orphanet:63260"}
synonym: "cranial rachischisis" EXACT [NCIT:C98907]
synonym: "craniorachischisis" EXACT [MONDO:ambiguous]
xref: COHD:372727 {source="MONDO:equivalentTo"}
xref: GARD:0010504 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0030770 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q00.1 {source="ORDO:63260/e", source="Orphanet:63260", source="ORDO:63260/specific"}
xref: ICD9:740.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10011321 {source="ORDO:63260/e", source="Orphanet:63260"}
xref: NCIT:C98907 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:63260 {source="MONDO:equivalentTo"}
xref: SCTID:32219008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0152426 {source="MONDO:equivalentTo", source="NCIT:C98907", source="ORDO:63260/e", source="Orphanet:63260"}
is_a: MONDO:0017059 {source="Orphanet:63260"} ! neural tube closure defect
property_value: exactMatch http://identifiers.org/meddra/10011321
property_value: exactMatch http://identifiers.org/snomedct/32219008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152426
property_value: exactMatch NCIT:C98907
property_value: exactMatch Orphanet:63260

[Term]
id: MONDO:0018970
name: obsolete pemphigoid gestationis
is_obsolete: true
replaced_by: MONDO:0006558

[Term]
id: MONDO:0018971
name: isolated oxycephaly
def: "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." [Orphanet:63440]
subset: ordo_morphological_anomaly {source="Orphanet:63440"}
synonym: "acrocephaly" EXACT [Orphanet:63440]
synonym: "hypsicephaly" EXACT [Orphanet:63440]
synonym: "hypsocephaly" EXACT [Orphanet:63440]
synonym: "pyrgocephaly" EXACT [Orphanet:63440]
synonym: "turricephaly" EXACT [Orphanet:63440]
xref: ICD10:Q75.0 {source="MONDO:subClassOf", source="ORDO:63440/inclusion", source="ORDO:63440/ntbt", source="Orphanet:63440"}
xref: Orphanet:63440 {source="MONDO:equivalentTo"}
xref: SCTID:48069004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015337 {source="Orphanet:63440"} ! isolated craniosynostosis
is_a: MONDO:0020254 {source="Orphanet:63440"} ! craniostenosis associated with a strabismus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030044
property_value: exactMatch http://identifiers.org/snomedct/48069004
property_value: exactMatch Orphanet:63440

[Term]
id: MONDO:0018972
name: rare epithelial tumor of stomach
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:63443"}
synonym: "rare gastric epithelial tumor" EXACT [Orphanet:63443]
xref: MedDRA:10017758 {source="Orphanet:63443", source="ORDO:63443/e"}
xref: Orphanet:63443 {source="MONDO:equivalentTo"}
xref: UMLS:CN235187 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021223 {source="https://github.com/monarch-initiative/mondo/issues/1760"} ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024623
property_value: exactMatch http://identifiers.org/meddra/10017758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN235187
property_value: exactMatch Orphanet:63443
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0018973
name: patterned dystrophy of the retinal pigment epithelium
subset: ordo_group_of_disorders {source="Orphanet:63454"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:63454", source="ORDO:63454/attributed", source="ORDO:63454/ntbt"}
xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="ORDO:63454/e"}
xref: Orphanet:63454 {source="MONDO:equivalentTo"}
xref: UMLS:C1868569 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:63454", source="MONDO:equivalentTo", source="ORDO:63454/e"}
is_a: MONDO:0020242 {source="Orphanet:63454"} ! genetic macular dystrophy
property_value: exactMatch http://identifiers.org/mesh/C536309
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868569
property_value: exactMatch Orphanet:63454

[Term]
id: MONDO:0018974
name: paraneoplastic pemphigus
def: "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare." [Orphanet:63455]
subset: ordo_disease {source="Orphanet:63455"}
xref: EFO:0008602 {source="MONDO:equivalentTo"}
xref: ICD10:L10.8 {source="Orphanet:63455", source="ORDO:63455/ntbt"}
xref: ICD10:L10.81 {source="MONDO:equivalentTo"}
xref: MedDRA:10057056 {source="ORDO:63455/e", source="Orphanet:63455"}
xref: Orphanet:63455 {source="MONDO:equivalentTo"}
xref: UMLS:C1112570 {source="ORDO:63455/e", source="Orphanet:63455", source="MONDO:equivalentTo"}
is_a: MONDO:0019337 {source="EFO:0008602/inferred", source="Orphanet:63455"} ! autoimmune bullous skin disease
is_a: MONDO:0021073 {source="MONDO:cjm"} ! paraneoplastic syndrome
property_value: exactMatch http://identifiers.org/meddra/10057056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112570
property_value: exactMatch Orphanet:63455

[Term]
id: MONDO:0018975
name: neurofibromatosis type 1
def: "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." [Orphanet:636]
subset: ordo_disease {source="Orphanet:636"}
synonym: "neurofibromatosis" EXACT [NCIT:C3273]
synonym: "neurofibromatosis 1" EXACT [NCIT:C3273]
synonym: "neurofibromatosis type 1" EXACT [NCIT:C3273]
synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [NCIT:C3273]
synonym: "neurofibromatosis, peripheral type" RELATED [OMIM:162200]
synonym: "neurofibromatosis, type 1" EXACT [MONDO:0008077]
synonym: "neurofibromatosis, type I" RELATED [MONDO:Lexical, OMIM:162200]
synonym: "neurofibromatosis, type I; NF1" RELATED [OMIM:162200]
synonym: "NF1" EXACT [MONDO:Lexical, NCIT:C3273, OMIM:162200, Orphanet:636]
synonym: "peripheral neurofibromatosis" EXACT [NCIT:C3273]
synonym: "Recklinghausen's disease" RELATED [GARD:0007866]
synonym: "type 1 neurofibromatosis" RELATED [GARD:0007866]
synonym: "Von Recklinghausen disease" EXACT [NCIT:C3273, OMIM:162200, Orphanet:636]
synonym: "von Reklinghausen disease" EXACT [DOID:8712]
xref: COHD:377252 {source="MONDO:equivalentTo"}
xref: GARD:0007866 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q85.0 {source="Orphanet:636", source="ORDO:636/inclusion", source="ORDO:636/ntbt"}
xref: ICD9:237.71 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10047712 {source="ORDO:636/e", source="Orphanet:636"}
xref: MESH:D009456 {source="DOID:8712", source="ORDO:636/e", source="Orphanet:636", source="MONDO:equivalentTo"}
xref: NCIT:C3273 {source="DOID:8712", source="MONDO:equivalentTo"}
xref: OMIM:162200 {source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:636/btnt"}
xref: Orphanet:636 {source="MONDO:subClassOf", source="DOID:8712", source="MONDO:equivalentTo", source="OMIM:162200"}
xref: SCTID:92824003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0027831 {source="DOID:8712", source="NCIT:C3273", source="ORDO:636/e", source="Orphanet:636", source="MONDO:equivalentTo", source="OMIM:162200"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015512 {source="Orphanet:636"} ! genetic hypertension
is_a: MONDO:0015651 {source="Orphanet:636"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0020063 {source="Orphanet:636"} ! malformation syndrome with hamartosis
is_a: MONDO:0020271 {source="Orphanet:636"} ! phakomatosis with eye involvement
is_a: MONDO:0021060 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/RASopathy"} ! RASopathy
is_a: MONDO:0021061 {source="MESH:D009456", source="NCIT:C3273", source="linkedlifedata"} ! neurofibromatosis
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0043218 ! neurovascular disease
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:636"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:636"} ! Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:636"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/meddra/10047712
property_value: exactMatch http://identifiers.org/mesh/C538607
property_value: exactMatch http://identifiers.org/mesh/D009456
property_value: exactMatch http://identifiers.org/omim/162200
property_value: exactMatch http://identifiers.org/snomedct/92824003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027831
property_value: exactMatch NCIT:C3273
property_value: exactMatch Orphanet:636

[Term]
id: MONDO:0018976
name: schisis association
def: "Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates." [Orphanet:63862]
subset: gard_rare {source="GARD:0000246"}
subset: ordo_malformation_syndrome {source="Orphanet:63862"}
synonym: "Midline development field defects" RELATED [GARD:0000246]
xref: GARD:0000246 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:63862", source="ORDO:63862/ntbt"}
xref: MESH:C536633 {source="ORDO:63862/e", source="Orphanet:63862", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:63862 {source="MONDO:equivalentTo"}
xref: SCTID:718095000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
xref: UMLS:C2931271 {source="ORDO:63862/e", source="Orphanet:63862", source="MONDO:equivalentTo"}
is_a: MONDO:0017120 {source="Orphanet:63862"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C536633
property_value: exactMatch http://identifiers.org/snomedct/718095000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931271
property_value: exactMatch Orphanet:63862
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/246/schisis-association xsd:anyURI {source="GARD:0000246"}

[Term]
id: MONDO:0018977
name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
def: "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." [Orphanet:639]
subset: ordo_disease {source="Orphanet:639"}
synonym: "anti-MAG neuropathy" EXACT [Orphanet:639]
synonym: "neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein" EXACT [Orphanet:639]
xref: ICD10:G61.8 {source="ORDO:639/ntbt", source="Orphanet:639"}
xref: Orphanet:639 {source="MONDO:equivalentTo"}
xref: UMLS:C1736154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:639"}
is_a: MONDO:0015916 {source="Orphanet:639"} ! rare neuroinflammatory or neuroimmunological disease
is_a: MONDO:0016169 {source="Orphanet:639"} ! chronic acquired demyelinating polyneuropathy
is_a: MONDO:0016178 {source="Orphanet:639"} ! peripheral neuropathy associated with monoclonal gammopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1736154
property_value: exactMatch Orphanet:639

[Term]
id: MONDO:0018978
name: IgG4-related mediastinitis
subset: ordo_disease {source="Orphanet:63999"}
synonym: "fibrosing mediastinitis" EXACT [Orphanet:63999]
synonym: "idiopathic mediastinal fibrosis" RELATED [GARD:0008337]
synonym: "mediastinal fibrosis" EXACT [Orphanet:63999]
synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999]
xref: GARD:0008337 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:J98.5 {source="ORDO:63999/ntbt", source="Orphanet:63999"}
xref: MedDRA:10027074 {source="ORDO:63999/e", source="Orphanet:63999"}
xref: MESH:C536136 {source="ORDO:63999/e", source="MONDO:equivalentTo", source="Orphanet:63999", source="MONDO:ontobio"}
xref: Orphanet:63999 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:63999"} ! respiratory system disease
is_a: MONDO:0017287 {source="Orphanet:63999"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020000"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10027074
property_value: exactMatch http://identifiers.org/mesh/C536136
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264573
property_value: exactMatch Orphanet:63999

[Term]
id: MONDO:0018979
name: multifocal motor neuropathy
def: "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." [Orphanet:641]
subset: gard_rare {source="GARD:0011011"}
subset: ordo_disease {source="Orphanet:641"}
synonym: "MMN" EXACT [Orphanet:641]
synonym: "MMNCB" EXACT [Orphanet:641]
synonym: "multifocal motor neuropathy with conduction block" EXACT [Orphanet:641]
xref: GARD:0011011 {source="MONDO:equivalentTo"}
xref: ICD10:G61.8 {source="ORDO:641/ntbt", source="Orphanet:641"}
xref: ICD10:G61.82 {source="MONDO:equivalentTo"}
xref: ICD9:357.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:641 {source="MONDO:equivalentTo"}
xref: SCTID:230591002 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:C0393847 {source="MONDO:equivalentTo", source="Orphanet:641"}
is_a: MONDO:0016169 {source="Orphanet:641"} ! chronic acquired demyelinating polyneuropathy
property_value: exactMatch http://identifiers.org/snomedct/230591002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393847
property_value: exactMatch Orphanet:641
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy xsd:anyURI {source="GARD:0011011"}

[Term]
id: MONDO:0018980
name: acrofacial dysostosis, Kennedy-Teebi type
def: "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis (see this term) due to the presence of manifestations not usually seen in Nager syndrome (NS; see this term) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." [Orphanet:64542]
subset: ordo_malformation_syndrome {source="Orphanet:64542"}
synonym: "Kennedy-Teebi syndrome" EXACT [Orphanet:64542]
xref: ICD10:Q75.4 {source="Orphanet:64542", source="ORDO:64542/attributed", source="ORDO:64542/ntbt"}
xref: Orphanet:64542 {source="MONDO:equivalentTo"}
xref: SCTID:720427009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.79/0.39/0.89"}
xref: UMLS:CN205418 {source="MONDO:equivalentTo"}
is_a: MONDO:0015334 {source="Orphanet:64542"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0018237 {source="Orphanet:64542"} ! acrofacial dysostosis
property_value: exactMatch http://identifiers.org/snomedct/720427009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205418
property_value: exactMatch Orphanet:64542

[Term]
id: MONDO:0018981
name: benign idiopathic neonatal seizures
subset: ordo_disease {source="Orphanet:64545"}
synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545]
synonym: "BINS" EXACT [Orphanet:64545]
xref: ICD10:G40.4 {source="Orphanet:64545", source="ORDO:64545/ntbt"}
xref: Orphanet:64545 {source="MONDO:equivalentTo"}
xref: UMLS:CN205419 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020070 {source="Orphanet:64545"} ! neonatal epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205419
property_value: exactMatch Orphanet:64545

[Term]
id: MONDO:0018982
name: Niemann-Pick disease type C
def: "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." [PMID:21502308]
subset: ordo_disease {source="Orphanet:646"}
synonym: "NPC" BROAD [PMID:21502308]
xref: ICD10:E75.2 {source="Orphanet:646", source="ORDO:646/inclusion", source="ORDO:646/ntbt"}
xref: MESH:D052556 {source="ORDO:646/e", source="Orphanet:646", source="MONDO:equivalentTo"}
xref: Orphanet:646 {source="MONDO:equivalentTo"}
xref: SCTID:66751000 {source="MONDO:equivalentTo"}
is_a: MONDO:0001982 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646", source="linkedlifedata"} ! Niemann-Pick disease
relationship: excluded_subClassOf MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0017037 {source="Orphanet:646"} ! secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
relationship: excluded_subClassOf MONDO:0018299 {source="Orphanet:646"} ! sphingolipidosis with epilepsy
relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:646"} ! neurometabolic disease
relationship: excluded_subClassOf MONDO:0019245 {source="MESH:D052556/inferred", source="Orphanet:646", source="PMID:21502308", source="indirect", source="linkedlifedata/inferred"} ! lysosomal lipid storage disorder
relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:646"} ! cerebral lipidosis with dementia
relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:646"} ! unclassified primitive or secondary maculopathy
relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:646"} ! supranuclear oculomotor palsy
property_value: exactMatch http://identifiers.org/mesh/D052556
property_value: exactMatch http://identifiers.org/snomedct/66751000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220756
property_value: exactMatch Orphanet:646

[Term]
id: MONDO:0018983
name: tolosa-Hunt syndrome
def: "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." [Orphanet:64686]
subset: gard_rare {source="GARD:0007777"}
subset: ordo_disease {source="Orphanet:64686"}
synonym: "nonspecific inflammation of the cavernous sinus or superior orbital fissure" RELATED [GARD:0007777]
synonym: "painful ophthalmoplegia" EXACT [Orphanet:64686]
synonym: "THS" RELATED [GARD:0007777]
synonym: "tolosa Hunt syndrome" RELATED [GARD:0007777]
synonym: "tolosa-Hunt syndrome" EXACT [DOID:1278]
xref: DOID:1278 {source="MONDO:equivalentTo"}
xref: GARD:0007777 {source="MONDO:equivalentTo"}
xref: ICD10:H49.8 {source="Orphanet:64686", source="ORDO:64686/attributed", source="ORDO:64686/ntbt"}
xref: MedDRA:10051526 {source="Orphanet:64686", source="ORDO:64686/e"}
xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="ORDO:64686/e"}
xref: NCIT:C85193 {source="DOID:1278", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:64686 {source="MONDO:equivalentTo"}
xref: SCTID:95794005 {source="DOID:1278", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.10"}
xref: UMLS:C0040381 {source="Orphanet:64686", source="DOID:1278", source="NCIT:C85193", source="MONDO:equivalentTo", source="ORDO:64686/e"}
xref: UMLS:C0392060 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:64686", source="MONDO:equivalentTo", source="ORDO:64686/e"}
xref: UMLS:CN205421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001584 {source="DOID:1278", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease
is_a: MONDO:0002254 {source="MONDOLEX:0018983", source="NCIT:C85193"} ! syndromic disease
is_a: MONDO:0015083 {source="Orphanet:64686"} ! nuclear oculomotor paralysis
is_a: MONDO:0020251 {source="Orphanet:64686"} ! rare strabismus and restriction syndrome
property_value: closeMatch http://identifiers.org/snomedct/75111000
property_value: exactMatch DOID:1278
property_value: exactMatch http://identifiers.org/meddra/10051526
property_value: exactMatch http://identifiers.org/mesh/C531833
property_value: exactMatch http://identifiers.org/mesh/D020333
property_value: exactMatch http://identifiers.org/snomedct/95794005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040381
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205421
property_value: exactMatch NCIT:C85193
property_value: exactMatch Orphanet:64686
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome xsd:anyURI {source="GARD:0007777"}

[Term]
id: MONDO:0018984
name: Oroya fever
def: "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." [NCIT:C128441]
subset: ordo_disease {source="Orphanet:64692"}
synonym: "Bartonella bacilliformis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella bacilliformis disease or disorder" EXACT []
synonym: "Bartonella bacilliformis infectious disease" EXACT []
synonym: "bartonellosis due to Bartonella bacilliformis infection" EXACT [Orphanet:64692]
synonym: "Carrion disease" EXACT [DOID:0050398, MONDO:0000322, Orphanet:64692]
synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Carrión disease" EXACT [NCIT:C128441]
synonym: "Oroya fever" EXACT [DOID:0050398]
xref: DOID:0050398 {source="MONDO:equivalentTo"}
xref: ICD10:A44.0 {source="ORDO:64692/e", source="Orphanet:64692"}
xref: NCIT:C128441 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
xref: Orphanet:64692 {source="MONDO:equivalentTo"}
xref: SCTID:240453002 {source="MONDO:kboom-pr-0.92/0.83/0.15", source="MONDO:equivalentTo"}
xref: SCTID:262461007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.49/0.15"}
xref: UMLS:C0029307 {source="NCIT:C128441", source="MONDO:equivalentTo", source="ORDO:64692/e", source="Orphanet:64692"}
xref: UMLS:CN205422 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005664 {source="DOID:0050398", source="MONDO:Redundant", source="NCIT:C128441", source="linkedlifedata", source="linkedlifedata/inferred"} ! bartonellosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: exactMatch DOID:0050398
property_value: exactMatch http://identifiers.org/snomedct/240453002
property_value: exactMatch http://identifiers.org/snomedct/262461007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205422
property_value: exactMatch NCIT:C128441
property_value: exactMatch Orphanet:64692

[Term]
id: MONDO:0018985
name: obsolete trench fever
is_obsolete: true
replaced_by: MONDO:0005991

[Term]
id: MONDO:0018986
name: obsolete leiomyosarcoma
is_obsolete: true
replaced_by: MONDO:0005058

[Term]
id: MONDO:0018987
name: granulomatous mastitis
def: "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." [MESH:D058890]
subset: ordo_disease {source="Orphanet:64722"}
synonym: "granulomatous lobular mastitis" RELATED [GARD:0013119]
synonym: "idiopathic granulomatous lobular mastitis" RELATED [GARD:0013119]
synonym: "idiopathic granulomatous mastitis" EXACT [Orphanet:64722]
xref: GARD:0013119 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N61 {source="Orphanet:64722", source="ORDO:64722/ntbt"}
xref: MESH:D058890 {source="ORDO:64722/e", source="Orphanet:64722", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:64722 {source="MONDO:equivalentTo"}
xref: SCTID:237444008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0405469 {source="ORDO:64722/e", source="Orphanet:64722", source="MONDO:equivalentTo"}
is_a: MONDO:0015858 {source="Orphanet:64722"} ! rare non-malformative breast disease
property_value: exactMatch http://identifiers.org/mesh/D058890
property_value: exactMatch http://identifiers.org/snomedct/237444008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0405469
property_value: exactMatch Orphanet:64722

[Term]
id: MONDO:0018988
name: iridocorneal endothelial syndrome
def: "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" [Orphanet:64734]
subset: gard_rare
subset: ordo_disease {source="Orphanet:64734"}
synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734]
xref: GARD:0000060 {source="MONDO:equivalentTo"}
xref: ICD10:H21.1 {source="Orphanet:64734", source="ORDO:64734/attributed", source="ORDO:64734/ntbt"}
xref: MedDRA:10053678 {source="ORDO:64734/e", source="Orphanet:64734"}
xref: MESH:D057129 {source="ORDO:64734/e", source="MONDO:equivalentTo", source="Orphanet:64734"}
xref: NCIT:C84792 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:64734 {source="MONDO:equivalentTo", source="GARD:0000060"}
xref: SCTID:129623003 {source="MONDO:kboom-pr-0.96/0.91/0.23", source="MONDO:equivalentTo"}
xref: UMLS:C1096100 {source="ORDO:64734/e", source="MONDO:equivalentTo", source="Orphanet:64734", source="NCIT:C84792"}
xref: UMLS:CN205427 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0018988", source="NCIT:C84792"} ! syndromic disease
relationship: disease_has_feature MONDO:0005041 {source="GARD:0000060-text", source="MONDO:cjm", source="Orphanet-text"} ! glaucoma (disease)
relationship: excluded_subClassOf MONDO:0015120 {source="Orphanet:64734"} ! obsolete rare acquired eye disease
relationship: excluded_subClassOf MONDO:0020221 {source="Orphanet:64734"} ! secondary glaucoma due to a proliferation and differentiation anomaly
property_value: exactMatch http://identifiers.org/meddra/10053678
property_value: exactMatch http://identifiers.org/mesh/D057129
property_value: exactMatch http://identifiers.org/snomedct/129623003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205427
property_value: exactMatch NCIT:C84792
property_value: exactMatch Orphanet:64734

[Term]
id: MONDO:0018989
name: recurrent acute pancreatitis
def: "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." [Orphanet:64740]
subset: ordo_disease {source="Orphanet:64740"}
xref: ICD10:K85.0 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: ICD10:K85.1 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: ICD10:K85.2 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: ICD10:K85.3 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: ICD10:K85.8 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: ICD10:K85.9 {source="Orphanet:64740", source="ORDO:64740/ntbt"}
xref: MedDRA:10033657 {source="Orphanet:64740", source="ORDO:64740/e"}
xref: Orphanet:64740 {source="MONDO:equivalentTo"}
xref: SCTID:197458008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0267937 {source="Orphanet:64740", source="MONDO:equivalentTo", source="ORDO:64740/e"}
is_a: MONDO:0002356 {source="Orphanet:64740"} ! pancreas disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015112"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10033657
property_value: exactMatch http://identifiers.org/snomedct/197458008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267937
property_value: exactMatch Orphanet:64740

[Term]
id: MONDO:0018990
name: obsolete pulmonary blastoma
is_obsolete: true
replaced_by: MONDO:0005933

[Term]
id: MONDO:0018991
name: hepatoportal sclerosis
def: "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." [Orphanet:64743]
subset: ordo_disease {source="Orphanet:64743"}
synonym: "obliterative portal venopathy" EXACT [Orphanet:64743]
xref: ICD10:K74.1 {source="Orphanet:64743", source="ORDO:64743/ntbt"}
xref: Orphanet:64743 {source="MONDO:equivalentTo"}
xref: SCTID:718096004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.45"}
xref: UMLS:C4273756 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/718096004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273756
property_value: exactMatch Orphanet:64743

[Term]
id: MONDO:0018992
name: IgG4-related thyroid disease
def: "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease (see these terms)." [Orphanet:64744]
subset: ordo_disease {source="Orphanet:64744"}
synonym: "Riedel disease" EXACT [Orphanet:64744]
synonym: "Riedel thyroiditis" EXACT [Orphanet:64744]
xref: ICD10:E06.5 {source="Orphanet:64744", source="ORDO:64744/ntbt"}
xref: MedDRA:10039142 {source="ORDO:64744/e", source="Orphanet:64744"}
xref: Orphanet:64744 {source="MONDO:equivalentTo"}
xref: SCTID:89024000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0015777 {source="Orphanet:64744"} ! adult hypothyroidism
is_a: MONDO:0017287 {source="Orphanet:64744"} ! IgG4-related disease
property_value: exactMatch http://identifiers.org/meddra/10039142
property_value: exactMatch http://identifiers.org/snomedct/89024000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154162
property_value: exactMatch Orphanet:64744

[Term]
id: MONDO:0018993
name: Charcot-Marie-Tooth disease type 2
def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [DOID:0050539, http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, PMID:25098539]
subset: ordo_group_of_disorders {source="Orphanet:64746"}
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease" EXACT [Orphanet:64746]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:64746]
synonym: "Charcot-Marie-Tooth type 2" RELATED [GARD:0012431]
synonym: "CMT2" EXACT [Orphanet:64746]
synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [DOID:0050539]
synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [DOID:0050539]
synonym: "hereditary motor and sensory neuropathy type 2" EXACT [DOID:0050539, Orphanet:64746]
xref: DOID:0050539 {source="MONDO:equivalentTo"}
xref: GARD:0012431 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:64746/ntbt", source="Orphanet:64746", source="ORDO:64746/inclusion"}
xref: ICD9:356.0 {source="DOID:0050539"}
xref: Orphanet:64746 {source="MONDO:equivalentTo", source="DOID:0050539"}
xref: SCTID:715665006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"}
is_a: MONDO:0015626 {source="MONDO:cjm"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0015360 {source="Orphanet:64746"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
property_value: closeMatch http://identifiers.org/snomedct/128202008
property_value: closeMatch http://identifiers.org/snomedct/193158000
property_value: closeMatch http://identifiers.org/snomedct/193159008
property_value: closeMatch http://identifiers.org/snomedct/65017003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0392553
property_value: exactMatch DOID:0050539
property_value: exactMatch http://identifiers.org/snomedct/715665006
property_value: exactMatch Orphanet:64746

[Term]
id: MONDO:0018994
name: Charcot-Marie-Tooth disease type X
def: "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." [https://charcot-marie-toothnews.com/charcot-marie-tooth-type-x-cmtx/, https://www.mda.org/disease/charcot-marie-tooth/types/cmtx]
subset: ordo_group_of_disorders {source="Orphanet:64747"}
synonym: "CMTX" EXACT [Orphanet:64747]
synonym: "Cowchock syndrome" EXACT EXCLUDE [DOID:0050542]
synonym: "COWCK" EXACT [DOID:0050542]
synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747]
synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747]
xref: DOID:0050542 {source="MONDO:equivalentTo"}
xref: GARD:0012444 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:64747/ntbt", source="Orphanet:64747", source="ORDO:64747/inclusion"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:64747 {source="DOID:0050542", source="MONDO:equivalentTo"}
xref: SCTID:230552007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.40"}
xref: UMLS:CN205436 {source="MONDO:equivalentTo"}
is_a: MONDO:0015358 {source="Orphanet:64747"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015626 {source="DOID:0050542", source="Orphanet:64747"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019589 {source="Orphanet:64747"} ! syndromic genetic deafness
is_a: MONDO:0020119 {source="Orphanet:64747"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020768 ! X-linked deafness
property_value: exactMatch DOID:0050542
property_value: exactMatch http://identifiers.org/snomedct/230552007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205436
property_value: exactMatch Orphanet:64747

[Term]
id: MONDO:0018995
name: Charcot-Marie-Tooth disease type 4
def: "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:64749]
subset: ordo_group_of_disorders {source="Orphanet:64749"}
synonym: "AR-CMT1" EXACT [Orphanet:64749]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth" EXACT [Orphanet:64749]
synonym: "CMT4" EXACT [Orphanet:64749]
synonym: "hereditary motor and sensory neuropathy" EXACT EXCLUDE [DOID:0050541]
xref: DOID:0050541 {source="MONDO:equivalentTo"}
xref: GARD:0012440 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:64749/ntbt", source="Orphanet:64749", source="ORDO:64749/inclusion"}
xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"}
xref: SCTID:715795005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/1.77"}
xref: UMLS:CN043578 {source="MONDO:equivalentTo"}
is_a: MONDO:0015361 {source="Orphanet:64749"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch DOID:0050541
property_value: exactMatch http://identifiers.org/snomedct/715795005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043578
property_value: exactMatch Orphanet:64749

[Term]
id: MONDO:0018996
name: spinocerebellar ataxia with axonal neuropathy type 2
def: "Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." [https://github.com/Orphanet/ORDO/issues/11, Orphanet:64753]
comment: See https://github.com/Orphanet/ORDO/issues/11
subset: ordo_disease {source="Orphanet:64753"}
synonym: "AOA2" EXACT [Orphanet:64753]
synonym: "ataxia with oculomotor apraxia type 2" EXACT [MONDO:0000438]
synonym: "ataxia-oculomotor apraxia type 2" EXACT [Orphanet:64753]
synonym: "autosomal recessive spinocerebellar ataxia-1" RELATED [GARD:0012860]
synonym: "scan 2" EXACT [Orphanet:64753]
synonym: "SCAN2" EXACT []
synonym: "SCAR1" EXACT [Orphanet:64753]
xref: DOID:0050755 {source="MONDO:equivalentTo"}
xref: GARD:0012860 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.2 {source="Orphanet:64753", source="ORDO:64753/attributed", source="ORDO:64753/ntbt"}
xref: Orphanet:64753 {source="MONDO:equivalentTo"}
xref: SCTID:725408001 {source="MONDO:equivalentTo"}
xref: UMLS:CN205441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020045 {source="Orphanet:64753"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
is_a: MONDO:0020127 {source="Orphanet:64753"} ! genetic peripheral neuropathy
is_a: MONDO:0020258 {source="Orphanet:64753"} ! oculomotor apraxia or related oculomotor disease
is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
property_value: exactMatch DOID:0050755
property_value: exactMatch http://identifiers.org/snomedct/725408001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205441
property_value: exactMatch Orphanet:64753

[Term]
id: MONDO:0018997
name: Noonan syndrome
def: "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." [Orphanet:648]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:648"}
synonym: "Noonan syndrome" EXACT [NCIT:C34854]
synonym: "Noonan's syndrome" EXACT [NCIT:C34854]
synonym: "Noonan-Ehmke syndrome" RELATED [GARD:0010955]
synonym: "pseudo-Ullrich-Turner syndrome" RELATED [GARD:0010955]
synonym: "Turner's phenotype, karyotype normal" EXACT [DOID:3490]
synonym: "Ullrich-Noonan syndrome" RELATED [GARD:0010955]
xref: DOID:3490 {source="MONDO:equivalentTo"}
xref: GARD:0010955 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="Orphanet:648", source="ORDO:648/ntbt", source="DOID:3490", source="ORDO:648/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10029748 {source="ORDO:648/e", source="Orphanet:648"}
xref: MESH:D009634 {source="ORDO:648/e", source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490"}
xref: NCIT:C34854 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: OMIMPS:163950 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: Orphanet:648 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: SCTID:205824006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.36/0.08", source="DOID:3490"}
xref: UMLS:C0028326 {source="ORDO:648/e", source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="NCIT:C34854"}
is_a: MONDO:0015218 {source="Orphanet:648"} ! syndromic developmental defect of the eye
is_a: MONDO:0015945 {source="Orphanet:648"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0018722 {source="Orphanet:648"} ! primary lymphedema with associated anomalies
is_a: MONDO:0018792 {source="Orphanet:648"} ! Moyamoya syndrome
is_a: MONDO:0019313 ! hereditary lymphedema
is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:648"} ! syndromic lymphedema
is_a: MONDO:0019721 {source="Orphanet:648"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020167 {source="Orphanet:648"} ! malposition of external canthus
is_a: MONDO:0020169 {source="Orphanet:648"} ! rare disorder with ptosis
is_a: MONDO:0020297 {source="Orphanet:648"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:648"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0021060 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/RASopathy"} ! RASopathy
property_value: closeMatch http://identifiers.org/snomedct/205684007
property_value: closeMatch http://identifiers.org/snomedct/205794007
property_value: closeMatch http://identifiers.org/snomedct/88327006
property_value: exactMatch DOID:3490
property_value: exactMatch http://identifiers.org/meddra/10029748
property_value: exactMatch http://identifiers.org/mesh/D009634
property_value: exactMatch http://identifiers.org/snomedct/205824006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028326
property_value: exactMatch NCIT:C34854
property_value: exactMatch Orphanet:648

[Term]
id: MONDO:0018998
name: Leber congenital amaurosis
def: "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." [Orphanet:65]
subset: ordo_disease {source="Orphanet:65"}
synonym: "amaurosis congenita of Leber" EXACT [Orphanet:65]
synonym: "congenital absence of the rods and cones" RELATED [GARD:0000634]
synonym: "congenital retinal blindness" RELATED [GARD:0000634]
synonym: "LCA" EXACT [DOID:14791]
synonym: "Leber's amaurosis" EXACT [DOID:14791]
synonym: "Leber's congenital amaurosis" EXACT [CSP2005:1114-9698, DOID:14791]
synonym: "Leber's congenital tapetoretinal degeneration" RELATED [GARD:0000634]
synonym: "Leber's congenital tapetoretinal dysplasia" RELATED [GARD:0000634]
synonym: "Leber's disease" EXACT [CSP2005:5000-0048, DOID:14791]
xref: DOID:14791 {source="MONDO:equivalentTo"}
xref: GARD:0000634 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.5 {source="Orphanet:65", source="ORDO:65/ntbt", source="ORDO:65/index", source="MONDO:directSiblingOf"}
xref: MedDRA:10070667 {source="Orphanet:65", source="ORDO:65/e"}
xref: MESH:D057130 {source="Orphanet:65", source="ORDO:65/e", source="DOID:14791", source="MONDO:equivalentTo"}
xref: NCIT:C129075 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:204000 {source="DOID:14791", source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="DOID:14791", source="MONDO:equivalentTo"}
xref: SCTID:193413001 {source="DOID:14791", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.75/0.49"}
xref: UMLS:C0339527 {source="Orphanet:65", source="ORDO:65/e", source="DOID:14791", source="MONDO:equivalentTo", source="NCIT:C129075"}
is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
is_a: MONDO:0020210 {source="Orphanet:65"} ! syndromic hyperopia
is_a: MONDO:0020211 {source="Orphanet:65"} ! syndromic keratoconus
property_value: exactMatch DOID:14791
property_value: exactMatch http://identifiers.org/meddra/10070667
property_value: exactMatch http://identifiers.org/mesh/D057130
property_value: exactMatch http://identifiers.org/snomedct/193413001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339527
property_value: exactMatch NCIT:C129075
property_value: exactMatch Orphanet:65

[Term]
id: MONDO:0018999
name: LCAT deficiency
def: "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." [Orphanet:650]
subset: ordo_disease {source="Orphanet:650"}
synonym: "lecithin-cholesterol acyltransferase deficiency" EXACT [Orphanet:650]
xref: ICD10:E78.6 {source="ORDO:650/inclusion", source="ORDO:650/ntbt", source="Orphanet:650"}
xref: Orphanet:650 {source="MONDO:equivalentTo"}
xref: SCTID:49227001 {source="MONDO:kboom-pr-0.69/0.38/0.06", source="MONDO:equivalentTo"}
is_a: MONDO:0017773 {source="Orphanet:650"} ! hypoalphalipoproteinemia
is_a: MONDO:0019743 {source="Orphanet:650"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020279 {source="Orphanet:650"} ! metabolic disease with corneal opacity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023195
property_value: exactMatch http://identifiers.org/snomedct/49227001
property_value: exactMatch Orphanet:650

[Term]
id: MONDO:0019000
name: perineural cyst
def: "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." [Orphanet:65250]
subset: ordo_disease {source="Orphanet:65250"}
synonym: "perineural cysts" RELATED [GARD:0009258]
synonym: "sacral neural cysts" RELATED [GARD:0009258]
synonym: "sacral perineural cysts" RELATED [GARD:0009258]
synonym: "sacral Tarlov cysts" RELATED [GARD:0009258]
synonym: "Tarlov cyst" EXACT [Orphanet:65250]
synonym: "Tarlov cysts" RELATED [GARD:0009258]
xref: EFO:1001858 {source="MONDO:equivalentTo"}
xref: GARD:0009258 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G54.8 {source="ORDO:65250/ntbt", source="Orphanet:65250"}
xref: MESH:D052958 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:65250 {source="MONDO:equivalentTo"}
xref: SCTID:81634008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.62"}
is_a: MONDO:0005071 {source="Orphanet:65250"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0520720
property_value: exactMatch http://identifiers.org/mesh/D052958
property_value: exactMatch http://identifiers.org/snomedct/81634008
property_value: exactMatch Orphanet:65250

[Term]
id: MONDO:0019001
name: obsolete biotin-responsive basal ganglia disease
is_obsolete: true
replaced_by: MONDO:0011841

[Term]
id: MONDO:0019002
name: Lhermitte-Duclos disease
def: "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." [Orphanet:65285]
subset: ordo_disease {source="Orphanet:65285"}
synonym: "dysplastic cerebellar gangliocytoma" EXACT [NCIT:C8419]
synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419]
synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285]
synonym: "LDD" EXACT [Orphanet:65285]
xref: GARD:0006901 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.8 {source="ORDO:65285/attributed", source="ORDO:65285/ntbt", source="Orphanet:65285"}
xref: ICDO:9493/0 {source="NCIT:C8419"}
xref: NCIT:C8419 {source="MONDO:kboom-pr-0.92/0.82/0.17", source="MONDO:equivalentTo"}
xref: Orphanet:65285 {source="MONDO:equivalentTo"}
xref: UMLS:C0391826 {source="MONDO:equivalentTo", source="ORDO:65285/e", source="NCIT:C8419", source="Orphanet:65285"}
is_a: MONDO:0016729 {source="NCIT:C8419/inferred", source="Orphanet:65285"} ! mixed neuronal-glial tumor
is_a: MONDO:0017118 {source="Orphanet:65285"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:65285", source="Orphanet:65285/inferred"} ! genetic nervous system disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391826
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266181
property_value: exactMatch NCIT:C8419
property_value: exactMatch Orphanet:65285

[Term]
id: MONDO:0019003
name: multiple endocrine neoplasia type 2
def: "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms)." [Orphanet:653]
subset: gard_rare {source="GARD:0003830"}
subset: ordo_disease {source="Orphanet:653"}
synonym: "MEN2" EXACT [Orphanet:653]
synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329]
xref: COHD:24612 {source="MONDO:equivalentTo"}
xref: GARD:0003830 {source="MONDO:equivalentTo"}
xref: ICD10:D44.8 {source="MONDO:subClassOf", source="Orphanet:653", source="ORDO:653/attributed", source="ORDO:653/ntbt"}
xref: ICD9:194.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:258.02 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028191 {source="Orphanet:653", source="ORDO:653/e"}
xref: NCIT:C123329 {source="MONDO:equivalentTo", source="kboom:pr0.78-conf4.37"}
xref: Orphanet:653 {source="MONDO:equivalentTo"}
xref: SCTID:61808009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.67/0.30/0.18"}
xref: UMLS:C4048306 {source="NCIT:C123329", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN073359 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015075 {source="MONDO:Entailed", source="Orphanet:653"} ! thyroid gland carcinoma
is_a: MONDO:0017169 {source="NCIT:C123329", source="Orphanet:653", source="linkedlifedata"} ! multiple endocrine neoplasia
is_a: MONDO:0018538 {source="Orphanet:653"} ! inherited digestive cancer-predisposing syndrome
property_value: closeMatch http://identifiers.org/omim/213799
property_value: exactMatch http://identifiers.org/meddra/10028191
property_value: exactMatch http://identifiers.org/snomedct/61808009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073359
property_value: exactMatch NCIT:C123329
property_value: exactMatch Orphanet:653
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 xsd:anyURI {source="GARD:0003830"}

[Term]
id: MONDO:0019004
name: kidney Wilms tumor
def: "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." [NCIT:C40407]
subset: ordo_disease {source="Orphanet:654"}
synonym: "adult nephroblastoma" EXACT [DOID:2154]
synonym: "adult renal Wilms' tumor" EXACT EXCLUDE [DOID:2154]
synonym: "childhood renal Wilms tumor" NARROW [DOID:2154]
synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154]
synonym: "embryonal nephroma" EXACT [NCIT:C40407]
synonym: "kidney Wilms tumor" EXACT [NCIT:C40407]
synonym: "nephroblastoma" EXACT [NCIT:C40407]
synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407]
synonym: "Nonanaplastic renal Wilm's tumor" EXACT [DOID:5176]
synonym: "nonanaplastic renal Wilms tumor" RELATED [DOID:5176]
synonym: "renal embryonic tumor" EXACT [Orphanet:654]
synonym: "renal Wilms tumor" EXACT [NCIT:C40407]
synonym: "renal Wilms' tumor" EXACT [NCIT:C40407]
synonym: "Wilms tumor" BROAD [Orphanet:654]
synonym: "Wilms tumor of the kidney" EXACT [NCIT:C40407]
synonym: "Wilms' tumor" EXACT [NCIT:C40407]
synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407]
xref: DC:0000457 {source="MONDO:equivalentTo"}
xref: DOID:2154 {source="MONDO:equivalentTo"}
xref: DOID:5176 {source="MONDO:equivalentTo"}
xref: ICD10:C64 {source="Orphanet:654", source="ORDO:654/index", source="ORDO:654/ntbt"}
xref: ICDO:8960/3 {source="NCIT:C40407"}
xref: MedDRA:10029145 {source="Orphanet:654", source="ORDO:654/e"}
xref: NCIT:C40407 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: ONCOTREE:WT {source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="MONDO:equivalentTo"}
xref: SCTID:302849000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027708 {source="Orphanet:654", source="NCIT:C40407", source="MONDO:equivalentTo", source="ORDO:654/e"}
is_a: MONDO:0002367 ! kidney cancer
is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor
relationship: excluded_subClassOf MONDO:0015963 {source="Orphanet:654"} ! obsolete inherited renal tumor
relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL343552
property_value: exactMatch DOID:2154
property_value: exactMatch DOID:5176
property_value: exactMatch http://identifiers.org/meddra/10029145
property_value: exactMatch http://identifiers.org/snomedct/302849000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027708
property_value: exactMatch NCIT:C40407
property_value: exactMatch Orphanet:654

[Term]
id: MONDO:0019005
name: nephronophthisis (disease)
def: "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." [NCIT:P378]
subset: gard_rare
subset: ordo_disease {source="Orphanet:655"}
synonym: "medullary cystic disease" EXACT [DOID:12712]
synonym: "medullary cystic kidney" EXACT [DOID:12712, ICD9CM_2006:753.16]
synonym: "nephronophthisis" EXACT [MONDO:ambiguous]
xref: DOID:12712 {source="MONDO:equivalentTo"}
xref: GARD:0000206 {source="MONDO:equivalentTo"}
xref: HP:0000090 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q61.5 {source="DOID:12712", source="Orphanet:655", source="ORDO:655/attributed", source="ORDO:655/ntbt"}
xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: OMIMPS:256100 {source="DOID:12712", source="MONDO:equivalentTo"}
xref: Orphanet:655 {source="DOID:12712", source="MONDO:equivalentTo", source="GARD:0000206"}
xref: UMLS:C0687120 {source="DOID:12712", source="Orphanet:655", source="MEDGEN:kboom-pr91-c94", source="MONDO:equivalentTo", source="NCIT:C123200"}
xref: UMLS:C2939174 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 {source="DOID:12712", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015962 {source="Orphanet:655"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:655"} ! rare renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/204958008
property_value: closeMatch http://identifiers.org/snomedct/204961009
property_value: exactMatch DOID:12712
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0687120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2939174
property_value: exactMatch NCIT:C123200
property_value: exactMatch Orphanet:655

[Term]
id: MONDO:0019006
name: familial idiopathic steroid-resistant nephrotic syndrome
def: "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." [Orphanet:656]
subset: ordo_disease {source="Orphanet:656"}
synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656]
xref: ICD10:N04.1 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"}
xref: ICD10:N04.3 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"}
xref: ICD10:N04.8 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"}
xref: Orphanet:656 {source="MONDO:equivalentTo"}
xref: SCTID:718141008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1868672 {source="Orphanet:656", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4273714 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN536255 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0002350 ! familial nephrotic syndrome
is_a: MONDO:0018170 {source="MONDO:Redundant", source="MONDOLEX:0019006", source="Orphanet:656"} ! idiopathic nephrotic syndrome
is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome
intersection_of: MONDO:0018170 ! idiopathic nephrotic syndrome
intersection_of: MONDO:0044765 ! steroid-resistant nephrotic syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/718141008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273714
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536255
property_value: exactMatch Orphanet:656

[Term]
id: MONDO:0019007
name: vaginal atresia
subset: ordo_morphological_anomaly {source="Orphanet:65681"}
xref: HP:0000148 {source="MONDO:otherHierarchy"}
xref: ICD10:Q52.0 {source="ORDO:65681/ntbt", source="Orphanet:65681"}
xref: MedDRA:10046879 {source="ORDO:65681/e", source="Orphanet:65681"}
xref: Orphanet:65681 {source="MONDO:equivalentTo"}
is_a: MONDO:0015847 {source="Orphanet:65681"} ! rare vaginal malformation
property_value: exactMatch http://identifiers.org/meddra/10046879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321884
property_value: exactMatch Orphanet:65681

[Term]
id: MONDO:0019008
name: benign recurrent intrahepatic cholestasis
def: "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." [Orphanet:65682]
subset: gard_rare {source="GARD:0012185"}
subset: ordo_disease {source="Orphanet:65682"}
synonym: "Bric" EXACT [Orphanet:65682]
synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300]
synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682]
xref: DOID:0070230 {source="MONDO:equivalentTo"}
xref: GARD:0012185 {source="MONDO:equivalentTo"}
xref: ICD10:K83.1 {source="ORDO:65682/attributed", source="ORDO:65682/ntbt", source="Orphanet:65682"}
xref: OMIMPS:243300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:65682 {source="MONDO:equivalentTo"}
xref: SCTID:31155007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0149841 {source="MONDO:equivalentTo", source="ORDO:65682/e", source="Orphanet:65682"}
is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:65682"} ! familial intrahepatic cholestasis
is_a: MONDO:0017755 {source="Orphanet:65682"} ! inborn disorder of bilirubin metabolism
property_value: exactMatch DOID:0070230
property_value: exactMatch http://identifiers.org/snomedct/31155007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149841
property_value: exactMatch Orphanet:65682
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis xsd:anyURI {source="GARD:0012185"}

[Term]
id: MONDO:0019009
name: isolated focal cortical dysplasia
def: "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." [Orphanet:65683]
subset: ordo_disease {source="Orphanet:65683"}
synonym: "epilepsy due to FCD" EXACT [Orphanet:65683]
xref: ICD10:Q04.8 {source="ORDO:65683/attributed", source="ORDO:65683/ntbt", source="Orphanet:65683"}
xref: Orphanet:65683 {source="MONDO:equivalentTo"}
xref: SCTID:766710005 {source="MONDO:equivalentTo"}
is_a: MONDO:0017094 {source="Orphanet:65683"} ! cerebral cortical dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846385
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2938983
property_value: exactMatch http://identifiers.org/snomedct/766710005
property_value: exactMatch Orphanet:65683

[Term]
id: MONDO:0019010
name: congenital isolated hyperinsulinism
def: "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms)." [Orphanet:657]
subset: ordo_group_of_disorders {source="Orphanet:657"}
synonym: "chi" EXACT [Orphanet:657]
synonym: "congenital hyperinsulinism" RELATED [GARD:0003947]
synonym: "hyperinsulinemic hypoglycemia familial" RELATED [GARD:0003947]
synonym: "hyperinsulinism congenital" RELATED [GARD:0003947]
synonym: "hyperinsulinism familial with pancreatic nesidioblastosis" RELATED [GARD:0003947]
synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657]
synonym: "PHHI" EXACT [Orphanet:657]
xref: GARD:0003947 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E16.1 {source="Orphanet:657", source="ORDO:657/attributed", source="ORDO:657/ntbt"}
xref: NCIT:C122923 {source="MONDO:kboom-pr-0.88/0.74/0.21", source="MONDO:equivalentTo"}
xref: Orphanet:657 {source="MONDO:equivalentTo"}
is_a: MONDO:0007834 {source="NCIT:C122923"} ! islet cell adenomatosis
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017182 {source="Orphanet:657"} ! familial hyperinsulinism
is_a: MONDO:0019716 {source="Orphanet:657"} ! overgrowth syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027773
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888018
property_value: exactMatch http://identifiers.org/mesh/D044903
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1257959
property_value: exactMatch NCIT:C122923
property_value: exactMatch Orphanet:657

[Term]
id: MONDO:0019011
name: Charcot-Marie-Tooth disease type 1
def: "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." [Orphanet:65753]
subset: ordo_group_of_disorders {source="Orphanet:65753"}
synonym: "autosomal dominant demyelinating Charcot-Marie-Tooth disease" EXACT [Orphanet:65753]
synonym: "Charcot-Marie-Tooth neuropathy type 1" EXACT [Orphanet:65753]
synonym: "Charcot-Marie-Tooth type 1" RELATED [GARD:0012433]
synonym: "CMT1" EXACT [Orphanet:65753]
synonym: "hereditary motor and sensory neuropathy type 1" EXACT [DOID:0050538, Orphanet:65753]
xref: DOID:0050538 {source="MONDO:equivalentTo"}
xref: GARD:0012433 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="Orphanet:65753", source="ORDO:65753/inclusion", source="ORDO:65753/ntbt"}
xref: Orphanet:65753 {source="MONDO:equivalentTo"}
xref: SCTID:398040009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0015359 {source="Orphanet:65753"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751036
property_value: exactMatch DOID:0050538
property_value: exactMatch http://identifiers.org/snomedct/398040009
property_value: exactMatch Orphanet:65753

[Term]
id: MONDO:0019012
name: Carpenter syndrome
def: "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." [NCIT:C98873]
subset: ordo_malformation_syndrome {source="Orphanet:65759"}
synonym: "ACPS2" EXACT [Orphanet:65759]
synonym: "acrocephalopolysyndactyly type 2" EXACT [Orphanet:65759]
synonym: "acrocephalopolysyndactyly type II" EXACT [DOID:0060234, NCIT:C98873]
synonym: "acrocephalosyndactyly, type II" RELATED [GARD:0006003]
synonym: "Carpenter 's syndrome" EXACT [NCIT:C98873]
synonym: "Carpenter syndrome" EXACT [NCIT:C98873]
synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873]
xref: DOID:0060234 {source="MONDO:equivalentTo"}
xref: GARD:0006003 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="ORDO:65759/index", source="ORDO:65759/ntbt", source="Orphanet:65759"}
xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"}
xref: OMIMPS:201000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:65759 {source="DOID:0060234", source="MONDO:equivalentTo"}
xref: SCTID:403767009 {source="DOID:0060234", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.07"}
xref: UMLS:C1275078 {source="ORDO:65759/e", source="DOID:0060234", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="Orphanet:65759"}
xref: UMLS:CN229565 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000078 {source="https://en.wikipedia.org/wiki/Carpenter_syndrome", source="linkedlifedata"} ! acrocephalopolysyndactyly
is_a: MONDO:0016565 {source="Orphanet:65759"} ! syndromic genetic obesity
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:65759"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/mesh/C563187
property_value: closeMatch http://identifiers.org/snomedct/74263009
property_value: exactMatch DOID:0060234
property_value: exactMatch http://identifiers.org/snomedct/403767009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229565
property_value: exactMatch NCIT:C98873
property_value: exactMatch Orphanet:65759

[Term]
id: MONDO:0019013
name: non-histaminic angioedema
def: "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:658]
subset: ordo_group_of_disorders {source="Orphanet:658"}
synonym: "angioneurotic edema" EXACT [Orphanet:658]
synonym: "bradykinine-induced angioedema" EXACT [Orphanet:658]
synonym: "non histamine-induced angioedema" EXACT [Orphanet:658]
xref: ICD9:995.1 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:658 {source="MONDO:equivalentTo"}
xref: SCTID:41291007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.34/0.08"}
xref: UMLS:CN227560 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006526 ! allergic urticaria
is_a: MONDO:0010481 {source="MONDOLEX:0019013"} ! angioedema
is_a: MONDO:0020012 {source="Orphanet:658"} ! systemic or rheumatic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020027"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/41291007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227560
property_value: exactMatch Orphanet:658

[Term]
id: MONDO:0019014
name: mutilating palmoplantar keratoderma with periorificial keratotic plaques
def: "Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." [Orphanet:659]
subset: gard_rare
subset: ordo_disease {source="Orphanet:659"}
synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [Orphanet:659]
synonym: "Olmsted syndrome" EXACT [Orphanet:659]
synonym: "palmoplantar and periorificial keratoderma" EXACT [Orphanet:659]
xref: GARD:0004075 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="Orphanet:659", source="ORDO:659/attributed", source="ORDO:659/ntbt"}
xref: MedDRA:10068842 {source="ORDO:659/e", source="Orphanet:659"}
xref: Orphanet:659 {source="MONDO:equivalentTo", source="GARD:0004075"}
xref: UMLS:C2609071 {source="MEDGEN:kboom-pr98-c99", source="ORDO:659/e", source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075"}
is_a: MONDO:0017670 {source="Orphanet:659"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/meddra/10068842
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609071
property_value: exactMatch Orphanet:659

[Term]
id: MONDO:0019015
name: omphalocele (disease)
def: "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." [Orphanet:660]
subset: ordo_morphological_anomaly {source="Orphanet:660"}
synonym: "congenital omphalocele" EXACT [NCIT:C98997]
synonym: "eventration" EXACT [NCIT:C98997]
synonym: "exomphalos" EXACT [NCIT:C98997]
synonym: "omphalocele" EXACT [MONDO:ambiguous]
synonym: "omphalocoele" EXACT [DOID:0060327]
xref: DOID:0060327 {source="MONDO:equivalentTo"}
xref: HP:0001539 {source="MONDO:otherHierarchy", source="DOID:0060327", source="ontobio"}
xref: ICD10:Q79.2 {source="ORDO:660/ntbt", source="DOID:0060327", source="Orphanet:660"}
xref: ICD9:756.72 {source="DOID:0060327"}
xref: MedDRA:10030308 {source="ORDO:660/e", source="Orphanet:660"}
xref: NCIT:C98997 {source="MONDO:equivalentTo", source="DOID:0060327", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: Orphanet:660 {source="MONDO:equivalentTo"}
xref: SCTID:18735004 {source="MONDO:equivalentTo", source="DOID:0060327", source="MONDO:kboom-pr-1.00/0.74/6.21"}
xref: UMLS:C0795690 {source="MONDO:equivalentTo", source="DOID:0060327", source="ORDO:660/e", source="Orphanet:660", source="NCIT:C98997"}
is_a: MONDO:0015215 {source="Orphanet:660"} ! non-syndromic diaphragmatic or abdominal wall malformation
property_value: closeMatch http://identifiers.org/snomedct/157007005
property_value: closeMatch http://identifiers.org/snomedct/196854005
property_value: closeMatch http://identifiers.org/snomedct/196872004
property_value: closeMatch http://identifiers.org/snomedct/205516007
property_value: closeMatch http://identifiers.org/snomedct/271017007
property_value: closeMatch http://identifiers.org/snomedct/49324006
property_value: closeMatch http://identifiers.org/snomedct/5867007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1306503
property_value: exactMatch DOID:0060327
property_value: exactMatch http://identifiers.org/meddra/10030308
property_value: exactMatch http://identifiers.org/snomedct/18735004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795690
property_value: exactMatch NCIT:C98997
property_value: exactMatch Orphanet:660

[Term]
id: MONDO:0019016
name: maternally-inherited progressive external ophthalmoplegia
subset: ordo_disease {source="Orphanet:663"}
synonym: "maternally-inherited chronic progressive external ophthalmoplegia" EXACT [Orphanet:663]
synonym: "maternally-inherited CPEO" EXACT [Orphanet:663]
xref: ICD10:H49.4 {source="ORDO:663/specific", source="MONDO:directSiblingOf", source="ORDO:663/e", source="Orphanet:663"}
xref: Orphanet:663 {source="MONDO:equivalentTo"}
xref: UMLS:CN924917 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="Orphanet:663"} ! inborn mitochondrial myopathy
is_a: MONDO:0016792 {source="Orphanet:663"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
is_a: MONDO:0020169 {source="Orphanet:663"} ! rare disorder with ptosis
is_a: MONDO:0020253 {source="Orphanet:663"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0020259 ! myopathy with eye involvement
is_a: MONDO:0020265 {source="Orphanet:663"} ! mitochondrial disease with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162674
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924917
property_value: exactMatch Orphanet:663

[Term]
id: MONDO:0019017
name: short fifth metacarpals-insulin resistance syndrome
def: "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." [Orphanet:66518]
subset: ordo_disease {source="Orphanet:66518"}
xref: ICD10:E13 {source="ORDO:66518/attributed", source="ORDO:66518/ntbt", source="Orphanet:66518"}
xref: Orphanet:66518 {source="MONDO:equivalentTo"}
xref: UMLS:CN205478 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015885 {source="Orphanet:66518"} ! rare insulin-resistance syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205478
property_value: exactMatch Orphanet:66518

[Term]
id: MONDO:0019018
name: Tako-tsubo cardiomyopathy
def: "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." [Orphanet:66529]
subset: ordo_disease {source="Orphanet:66529"}
synonym: "acute stress cardiomyopathy" RELATED [GARD:0009400]
synonym: "ampulla cardiomyopathy" EXACT [Orphanet:66529]
synonym: "apical ballooning syndrome" EXACT [Orphanet:66529]
synonym: "ASC" RELATED [GARD:0009400]
synonym: "ballooning cardiomyopathy" EXACT [Orphanet:66529]
synonym: "broken heart syndrome" EXACT [Orphanet:66529]
synonym: "broken-heart syndrome" RELATED [GARD:0009400]
synonym: "left ventricular transient apical ballooning" RELATED [GARD:0009400]
synonym: "stress cardiomyopathy" EXACT [Orphanet:66529]
synonym: "stress-induced cardiomyopathy" RELATED [GARD:0009400]
synonym: "Tako tsubo syndrome" RELATED [GARD:0009400]
synonym: "Tako-Tsubo syndrome" EXACT [Orphanet:66529]
synonym: "Takotsubo cardiomyopathy" EXACT [Orphanet:66529]
synonym: "Takotsubo syndrome" EXACT [Orphanet:66529]
synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400]
synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529]
xref: COHD:40479589 {source="MONDO:equivalentTo"}
xref: EFO:1002000 {source="MONDO:equivalentTo"}
xref: GARD:0009400 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I42.8 {source="ORDO:66529/ntbt", source="Orphanet:66529"}
xref: ICD9:429.83 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D054549 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85181 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:66529 {source="MONDO:equivalentTo"}
xref: SCTID:441541008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1739395 {source="NCIT:C85181", source="MONDO:equivalentTo", source="Orphanet:66529", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205479 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016343 {source="Orphanet:66529"} ! unclassified cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1168291
property_value: exactMatch http://identifiers.org/mesh/D054549
property_value: exactMatch http://identifiers.org/snomedct/441541008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1739395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205479
property_value: exactMatch NCIT:C85181
property_value: exactMatch Orphanet:66529

[Term]
id: MONDO:0019019
name: osteogenesis imperfecta
def: "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." [Orphanet:666]
subset: gard_rare {source="GARD:0001017"}
subset: ordo_disease {source="Orphanet:666"}
synonym: "brittle bone disease" EXACT [CSP2005:1849-7175, DOID:12347, Orphanet:666]
synonym: "Fragilitas ossium" RELATED [DOID:12347]
synonym: "glass bone disease" EXACT [Orphanet:666]
synonym: "Lobstein disease" EXACT [Orphanet:666]
synonym: "Lobstein's syndrome" EXACT [DOID:12347]
synonym: "OI" EXACT [Orphanet:666]
synonym: "Osteopsathyrosis" EXACT [DOID:12347, MTHICD9_2006:756.51, Orphanet:666]
synonym: "Porak and Durante disease" EXACT [Orphanet:666]
synonym: "Vrolik disease" RELATED [GARD:0001017]
synonym: "Vrolik's disease" EXACT [DOID:12347]
xref: COHD:78257 {source="MONDO:equivalentTo"}
xref: DOID:12347 {source="MONDO:equivalentTo"}
xref: GARD:0001017 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/specific", source="ORDO:666/e"}
xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10031243 {source="Orphanet:666", source="ORDO:666/e"}
xref: MESH:D010013 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/e"}
xref: NCIT:C26837 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: OMIMPS:166200 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: Orphanet:666 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: SCTID:78314001 {source="DOID:12347", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.17"}
xref: UMLS:C0029434 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/e", source="NCIT:C26837"}
is_a: MONDO:0005516 {source="DOID:12347", source="MESH:D010013"} ! osteochondrodysplasia
is_a: MONDO:0019704 {source="Orphanet:666"} ! primary bone dysplasia with decreased bone density
property_value: closeMatch http://identifiers.org/snomedct/157008000
property_value: closeMatch http://identifiers.org/snomedct/205492005
property_value: closeMatch http://identifiers.org/snomedct/205493000
property_value: closeMatch http://identifiers.org/snomedct/205494006
property_value: closeMatch http://identifiers.org/snomedct/205498009
property_value: closeMatch http://identifiers.org/snomedct/254105005
property_value: closeMatch http://identifiers.org/snomedct/254106006
property_value: closeMatch http://identifiers.org/snomedct/254107002
property_value: closeMatch http://identifiers.org/snomedct/254108007
property_value: closeMatch http://identifiers.org/snomedct/254109004
property_value: closeMatch http://identifiers.org/snomedct/268352002
property_value: closeMatch http://identifiers.org/snomedct/3508009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023931
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268360
property_value: exactMatch DOID:12347
property_value: exactMatch http://identifiers.org/meddra/10031243
property_value: exactMatch http://identifiers.org/mesh/D010013
property_value: exactMatch http://identifiers.org/snomedct/78314001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029434
property_value: exactMatch NCIT:C26837
property_value: exactMatch Orphanet:666
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta xsd:anyURI {source="GARD:0001017"}

[Term]
id: MONDO:0019020
name: PANDAS
def: "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." [Orphanet:66624]
subset: ordo_disease {source="Orphanet:66624"}
synonym: "pediatric autoimmune disorders associated with Streptococcus infections" EXACT [Orphanet:66624]
synonym: "pediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED [GARD:0007312]
synonym: "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED [GARD:0007312]
synonym: "pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" EXACT [Orphanet:66624]
xref: GARD:0007312 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C537163 {source="MONDO:equivalentTo"}
xref: Orphanet:66624 {source="MONDO:equivalentTo"}
xref: UMLS:CN205481 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017647 {source="Orphanet:66624"} ! postinfectious autoimmune disease with chorea
property_value: exactMatch http://identifiers.org/mesh/C537163
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205481
property_value: exactMatch Orphanet:66624

[Term]
id: MONDO:0019021
name: obsolete pigmented villonodular synovitis
is_obsolete: true
replaced_by: MONDO:0006906

[Term]
id: MONDO:0019022
name: sensorineural hearing loss-early graying-essential tremor syndrome
def: "Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor." [Orphanet:66633]
subset: ordo_malformation_syndrome {source="Orphanet:66633"}
xref: Orphanet:66633 {source="MONDO:equivalentTo"}
xref: UMLS:CN205488 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017663 {source="Orphanet:66633"} ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:66633"} ! syndromic genetic deafness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205488
property_value: exactMatch Orphanet:66633

[Term]
id: MONDO:0019023
name: cutaneous mastocytosis
def: "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term)." [Orphanet:66646]
subset: ordo_group_of_disorders {source="Orphanet:66646"}
synonym: "CM" EXACT [DOID:3663, NCIT:C7137]
synonym: "CMCD" RELATED [ONCOTREE:CMCD]
synonym: "cutaneous (skin) mastocytosis" EXACT [NCIT:C7137]
synonym: "cutaneous mastocytosis" EXACT [MONDO:ambiguous, NCIT:C7137]
synonym: "cutaneous mastocytosis (disease)" EXACT [MONDO:0002723]
xref: DOID:3663 {source="MONDO:equivalentTo"}
xref: EFO:1000886 {source="MONDO:equivalentTo"}
xref: GARD:0007842 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0200151 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:66646/e", source="Orphanet:66646"}
xref: ICDO:9740/1 {source="NCIT:C7137"}
xref: MESH:D034701 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo"}
xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CMCD {source="MONDO:equivalentTo"}
xref: Orphanet:66646 {source="MONDO:equivalentTo"}
xref: SCTID:397012002 {source="DOID:3663", source="MONDO:kboom-pr-0.98/0.92/1.66", source="MONDO:equivalentTo"}
xref: UMLS:C1136033 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="NCIT:C7137"}
is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C7137"} ! dermis tumor
is_a: MONDO:0005492 {source="Orphanet:66646"} ! urticaria (disease)
is_a: MONDO:0007950 {source="DOID:3663", source="MESH:D034701", source="NCIT:C7137", source="ONCOTREE:CMCD", source="Orphanet:66646"} ! mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/703827008
property_value: exactMatch DOID:3663
property_value: exactMatch http://identifiers.org/mesh/D034701
property_value: exactMatch http://identifiers.org/snomedct/397012002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1136033
property_value: exactMatch NCIT:C7137
property_value: exactMatch Orphanet:66646

[Term]
id: MONDO:0019024
name: mast cell sarcoma
def: "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" [NCIT:C9348]
subset: ordo_disease {source="Orphanet:66661"}
synonym: "mast cell sarcoma" EXACT [MONDO:0006296, MONDO:patterns/location]
synonym: "mast-cell sarcoma" EXACT [MONDO:0002686]
synonym: "MCS" EXACT [NCIT:C9348]
synonym: "MCSL" RELATED [ONCOTREE:MCSL]
synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:355 {source="MONDO:equivalentTo"}
xref: EFO:1000364 {source="MONDO:equivalentTo"}
xref: ICD10:C96.2 {source="ORDO:66661/ntbt", source="Orphanet:66661", source="DOID:355"}
xref: ICD9:202.6 {source="DOID:355"}
xref: ICDO:9740/3 {source="NCIT:C9348"}
xref: MESH:D012515 {source="MONDO:equivalentTo", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"}
xref: NCIT:C9348 {source="MONDO:0021036", source="EFO:1000364", source="MONDO:equivalentTo", source="DOID:355"}
xref: ONCOTREE:MCSL {source="MONDO:equivalentTo"}
xref: Orphanet:66661 {source="MONDO:equivalentTo"}
xref: SCTID:118615008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.72/0.43/0.05", source="DOID:355"}
xref: UMLS:C0036221 {source="MONDO:equivalentTo", source="NCIT:C9348", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0005089 {source="DOID:355", source="EFO:1000364", source="MONDO:Redundant", source="linkedlifedata"} ! sarcoma
is_a: MONDO:0007950 {source="MESH:D012515", source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/13583002
property_value: closeMatch http://identifiers.org/snomedct/188660004
property_value: closeMatch http://identifiers.org/snomedct/188661000
property_value: closeMatch http://identifiers.org/snomedct/188670002
property_value: closeMatch http://identifiers.org/snomedct/307591004
property_value: closeMatch http://identifiers.org/snomedct/397010005
property_value: exactMatch DOID:355
property_value: exactMatch http://identifiers.org/mesh/D012515
property_value: exactMatch http://identifiers.org/snomedct/118615008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036221
property_value: exactMatch NCIT:C9348
property_value: exactMatch Orphanet:66661

[Term]
id: MONDO:0019025
name: extracutaneous mastocytoma
def: "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" [NCIT:C7136]
subset: ordo_disease {source="Orphanet:66662"}
synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136]
xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"}
xref: EFO:1000932 {source="MONDO:equivalentTo"}
xref: ICD10:C96.2 {source="ORDO:66662/ntbt", source="Orphanet:66662"}
xref: ICDO:9740/1 {source="NCIT:C7136"}
xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="exact-label-match", source="EFO:1000932"}
xref: Orphanet:66662 {source="MONDO:equivalentTo"}
xref: SCTID:63175003 {source="MONDO:kboom-pr-1.00/0.74/5.82", source="MONDO:equivalentTo", source="DOID:4659", source="EFO:1000932"}
xref: UMLS:C0272202 {source="NCIT:C7136", source="MONDO:equivalentTo", source="DOID:4659", source="ORDO:66662/e", source="Orphanet:66662"}
is_a: MONDO:0003079 {source="NCIT:C7136", source="linkedlifedata"} ! mastocytoma
is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis
property_value: closeMatch http://identifiers.org/mesh/D034801
property_value: exactMatch DOID:4659
property_value: exactMatch http://identifiers.org/snomedct/63175003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272202
property_value: exactMatch NCIT:C7136
property_value: exactMatch Orphanet:66662

[Term]
id: MONDO:0019026
name: autosomal recessive osteopetrosis
def: "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." [NCIT:C129733]
subset: ordo_malformation_syndrome {source="Orphanet:667"}
synonym: "autosomal recessive malignant osteopetrosis" EXACT [Orphanet:667]
synonym: "autosomal recessive osteopetrosis" EXACT [NCIT:C129733]
synonym: "autosomal recessive osteopetrosis (disease)" EXACT []
synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667]
synonym: "malignant osteopetrosis" RELATED [NCIT:C129733]
synonym: "OPTB" EXACT []
synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:Q78.2 {source="Orphanet:667", source="ORDO:667/attributed", source="ORDO:667/ntbt"}
xref: NCIT:C129733 {source="MONDO:equivalentTo"}
xref: OMIMPS:259700 {source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="MONDO:equivalentTo"}
xref: SCTID:367489004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017198 {source="MONDOLEX:0019026", source="NCIT:C129733", source="Orphanet:667", source="linkedlifedata"} ! osteopetrosis (disease)
is_a: MONDO:0020249 {source="Orphanet:667", source="Orphanet:667/inferred"} ! hereditary optic neuropathy
property_value: exactMatch http://identifiers.org/snomedct/367489004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318518
property_value: exactMatch NCIT:C129733
property_value: exactMatch Orphanet:667

[Term]
id: MONDO:0019027
name: otopalatodigital syndrome
def: "Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." [Orphanet:669]
subset: ordo_malformation_syndrome {source="Orphanet:669"}
synonym: "oto-palatal-digital syndrome" EXACT [GARD:0007293]
synonym: "oto-palato-digital syndrome" EXACT []
synonym: "Taybi syndrome" EXACT [Orphanet:669]
synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293]
xref: GARD:0007293 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:669", source="ORDO:669/ntbt", source="ORDO:669/index"}
xref: Orphanet:669 {source="MONDO:equivalentTo"}
xref: SCTID:767130007 {source="MONDO:equivalentTo"}
xref: UMLS:CN205496 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:669"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015334 {source="Orphanet:669"} ! branchial arch or oral-acral syndrome
is_a: MONDO:0015336 {source="Orphanet:669"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0015501 {source="Orphanet:669"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018233 {source="Orphanet:669"} ! otopalatodigital syndrome spectrum disorder
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:669"} ! syndromic genetic deafness
is_a: MONDO:0020014 {source="Orphanet:669"} ! rare disease with odontological manifestation
is_a: MONDO:0020119 {source="Orphanet:669"} ! X-linked syndromic intellectual disability
is_a: MONDO:0020768 ! X-linked deafness
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/767130007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205496
property_value: exactMatch Orphanet:669

[Term]
id: MONDO:0019028
name: amoebiasis due to Entamoeba histolytica
def: ", mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." [Orphanet:67]
subset: ordo_disease {source="Orphanet:67"}
xref: ICD10:A06.0 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.1 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.2 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.3 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.4 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.5 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.6 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.7 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.8 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: ICD10:A06.9 {source="Orphanet:67", source="ORDO:67/btnt"}
xref: MESH:C531613 {source="Orphanet:67", source="ORDO:67/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:67 {source="MONDO:equivalentTo"}
xref: UMLS:C2930799 {source="Orphanet:67", source="ORDO:67/e", source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="Orphanet:67"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C531613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930799
property_value: exactMatch Orphanet:67

[Term]
id: MONDO:0019029
name: segmental odontomaxillary dysplasia
def: "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." [Orphanet:67039]
subset: ordo_disease {source="Orphanet:67039"}
synonym: "SOD" EXACT [Orphanet:67039]
xref: ICD10:K00.4 {source="Orphanet:67039", source="ORDO:67039/ntbt"}
xref: ICD9:524.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:67039 {source="MONDO:equivalentTo"}
xref: SCTID:699756005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015603 {source="Orphanet:67039"} ! rare odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/snomedct/699756005
property_value: exactMatch Orphanet:67039

[Term]
id: MONDO:0019030
name: obsolete Acanthamoeba keratitis
is_obsolete: true
replaced_by: MONDO:0005629

[Term]
id: MONDO:0019031
name: thrombocytopenia with congenital dyserythropoietic anemia
def: "Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." [Orphanet:67044]
subset: ordo_disease {source="Orphanet:67044"}
synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044]
synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044]
synonym: "XDAT" EXACT [Orphanet:67044]
xref: ICD10:D69.4 {source="ORDO:67044/attributed", source="ORDO:67044/ntbt", source="Orphanet:67044"}
xref: Orphanet:67044 {source="MONDO:equivalentTo"}
xref: SCTID:722475006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4302508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010308 ! thrombocytopenia, X-linked, with or without dyserythropoietic anemia
is_a: MONDO:0016361 {source="Orphanet:67044"} ! isolated hereditary giant platelet disorder
is_a: MONDO:0019403 {source="Orphanet:67044", source="linkedlifedata"} ! congenital dyserythropoietic anemia
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845837
property_value: exactMatch http://identifiers.org/snomedct/722475006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302508
property_value: exactMatch Orphanet:67044

[Term]
id: MONDO:0019032
name: X-linked intellectual disability with isolated growth hormone deficiency
subset: ordo_clinical_subtype {source="Orphanet:67045"}
synonym: "MRGH" EXACT [Orphanet:67045]
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:67045/attributed", source="ORDO:67045/ntbt", source="Orphanet:67045"}
xref: Orphanet:67045 {source="MONDO:equivalentTo"}
xref: UMLS:C1848068 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:67045"}
is_a: MONDO:0020119 {source="Orphanet:67045"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848068
property_value: exactMatch Orphanet:67045

[Term]
id: MONDO:0019033
name: primary cutis verticis gyrata
def: "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." [Orphanet:671]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:671"}
synonym: "cutis verticis gyrata" EXACT []
xref: GARD:0001643 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:671/ntbt", source="Orphanet:671"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"}
xref: SCTID:51603000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263417 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001643", source="MONDO:equivalentTo", source="ORDO:671/e", source="Orphanet:671"}
is_a: MONDO:0021154 {source="Orphanet:671"} ! dermis disease
property_value: exactMatch http://identifiers.org/snomedct/51603000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263417
property_value: exactMatch Orphanet:671
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata xsd:anyURI {source="GARD:0001643"}

[Term]
id: MONDO:0019034
name: accessory pancreas
def: "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." [Orphanet:674]
subset: gard_rare {source="GARD:0000454"}
subset: ordo_morphological_anomaly {source="Orphanet:674"}
synonym: "pancreas accessorium" RELATED [GARD:0000454]
xref: GARD:0000454 {source="MONDO:equivalentTo"}
xref: ICD10:Q45.3 {source="ORDO:674/inclusion", source="ORDO:674/ntbt", source="Orphanet:674"}
xref: MESH:C536003 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:674/e", source="Orphanet:674"}
xref: Orphanet:674 {source="MONDO:equivalentTo"}
xref: SCTID:79037006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0015213 {source="Orphanet:674"} ! non-syndromic visceral malformation
property_value: exactMatch http://identifiers.org/mesh/C536003
property_value: exactMatch http://identifiers.org/snomedct/79037006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266268
property_value: exactMatch Orphanet:674
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas xsd:anyURI {source="GARD:0000454"}

[Term]
id: MONDO:0019035
name: pancreatoblastoma
def: "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." [Orphanet:677]
subset: gard_rare {source="GARD:0004210"}
subset: ordo_disease {source="Orphanet:677"}
synonym: "pancreatoblastoma (morphologic abnormality)" EXACT [DOID:6823]
synonym: "PB" RELATED [ONCOTREE:PB]
xref: DOID:6823 {source="MONDO:equivalentTo"}
xref: EFO:1000446 {source="MONDO:equivalentTo"}
xref: GARD:0004210 {source="MONDO:equivalentTo"}
xref: ICD10:C25.1 {source="Orphanet:677", source="ORDO:677/ntbt"}
xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="MONDO:ontobio", source="ORDO:677/e"}
xref: NCIT:C4265 {source="MONDO:equivalentTo", source="DOID:6823", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: ONCOTREE:PB {source="MONDO:equivalentTo"}
xref: Orphanet:677 {source="MONDO:equivalentTo"}
xref: UMLS:C0334489 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="ORDO:677/e"}
is_a: MONDO:0002116 {source="NCIT:C4265"} ! malignant exocrine pancreas neoplasm
is_a: MONDO:0018520 {source="Orphanet:677"} ! rare epithelial tumor of pancreas
property_value: closeMatch http://identifiers.org/snomedct/189814006
property_value: closeMatch http://identifiers.org/snomedct/53618008
property_value: exactMatch DOID:6823
property_value: exactMatch http://identifiers.org/mesh/C537162
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334489
property_value: exactMatch NCIT:C4265
property_value: exactMatch Orphanet:677
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma xsd:anyURI {source="GARD:0004210"}

[Term]
id: MONDO:0019036
name: amoebiasis due to free-living amoebae
def: "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." [https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae]
subset: gard_rare {source="GARD:0012650"}
subset: ordo_disease {source="Orphanet:68"}
xref: GARD:0012650 {source="MONDO:equivalentTo"}
xref: ICD10:B60.1 {source="Orphanet:68", source="ORDO:68/btnt"}
xref: ICD10:B60.2 {source="Orphanet:68", source="ORDO:68/btnt"}
xref: Orphanet:68 {source="MONDO:equivalentTo"}
xref: UMLS:CN205519 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="Orphanet:68"} ! parasitic infection
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205519
property_value: exactMatch Orphanet:68
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae xsd:anyURI {source="GARD:0012650"}

[Term]
id: MONDO:0019037
name: progressive supranuclear palsy
def: "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." [Orphanet:683]
subset: ordo_disease {source="Orphanet:683"}
synonym: "familial progressive supranuclear palsy (type)" RELATED [GARD:0007471]
synonym: "progressive supranuclear ophthalmoplegia" EXACT [DOID:678, MTHICD9_2006:333.0]
synonym: "PSP syndrome" EXACT [Orphanet:683]
synonym: "Steele-Richardson-Olszewski syndrome" EXACT [DOID:678]
synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471]
xref: DOID:678 {source="MONDO:equivalentTo"}
xref: GARD:0007471 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G23.1 {source="DOID:678", source="ORDO:683/specific", source="ORDO:683/e", source="Orphanet:683"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036813 {source="ORDO:683/e", source="Orphanet:683"}
xref: MESH:D013494 {source="DOID:678", source="MONDO:equivalentTo", source="ORDO:683/e", source="Orphanet:683"}
xref: NCIT:C85028 {source="DOID:678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.78/1.13"}
xref: Orphanet:683 {source="DOID:678", source="MONDO:equivalentTo"}
xref: SCTID:28978003 {source="DOID:678", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.40"}
xref: UMLS:C0038868 {source="DOID:678", source="MONDO:equivalentTo", source="ORDO:683/e", source="Orphanet:683", source="NCIT:C85028"}
xref: UMLS:CN205522 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0019037", source="NCIT:C85028"} ! syndromic disease
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017643 {source="Orphanet:683"} ! frontotemporal neurodegeneration with movement disorder
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020137 {source="Orphanet:683"} ! frontotemporal degeneration with dementia
is_a: MONDO:0020257 {source="Orphanet:683"} ! supranuclear oculomotor palsy
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:683/inferred"} ! genetic neurodegenerative disease with dementia
property_value: closeMatch http://identifiers.org/snomedct/192975003
property_value: closeMatch http://identifiers.org/snomedct/192976002
property_value: exactMatch DOID:678
property_value: exactMatch http://identifiers.org/meddra/10036813
property_value: exactMatch http://identifiers.org/mesh/D013494
property_value: exactMatch http://identifiers.org/snomedct/28978003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038868
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205522
property_value: exactMatch NCIT:C85028
property_value: exactMatch Orphanet:683

[Term]
id: MONDO:0019038
name: rare maxillo-facial surgical disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68329"}
synonym: "rare maxillofacial anomaly" EXACT [Orphanet:68329]
xref: Orphanet:68329 {source="MONDO:equivalentTo"}
xref: UMLS:CN205523 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0023369 {source="https://github.com/monarch-initiative/mondo/issues/75"} ! disease of facial skeleton
relationship: has_modifier MONDO:0021136 ! rare
relationship: has_modifier MONDO:0022201 ! has treatment by surgery
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205523
property_value: exactMatch Orphanet:68329
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019039
name: rare hemorrhagic disorder due to a constitutional coagulation factors defect
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68334"}
synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334]
synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334]
xref: Orphanet:68334 {source="MONDO:equivalentTo"}
xref: UMLS:CN227563 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002242 {source="MONDO:cjm"} ! coagulation protein disease
is_a: MONDO:0016628 {source="Orphanet:68334"} ! hemorrhagic disorder due to a coagulation factors defect
relationship: excluded_subClassOf MONDO:0015973 {source="Orphanet:68334"} ! obsolete rare genetic coagulation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227563
property_value: exactMatch Orphanet:68334
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019040
name: chromosomal anomaly
def: "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" [MESH:D025063]
subset: ordo_group_of_disorders {source="Orphanet:68335"}
synonym: "autosomal chromosome disorder" RELATED [MESH:D025063]
synonym: "autosomal chromosome disorders" RELATED [MESH:D025063]
synonym: "chromosomal anomaly" EXACT []
synonym: "chromosomal disease" EXACT [MONDO:0000838]
synonym: "chromosomal disorder" RELATED [MESH:D025063]
synonym: "chromosomal disorders" RELATED [MESH:D025063]
synonym: "chromosome Abnormality disorder" RELATED [MESH:D025063]
synonym: "chromosome Abnormality disorders" RELATED [MESH:D025063]
synonym: "chromosome disorder" RELATED [MESH:D025063]
synonym: "chromosome disorder, autosomal" RELATED [MESH:D025063]
synonym: "chromosome disorders, autosomal" RELATED [MESH:D025063]
synonym: "disorder, chromosomal" RELATED [MESH:D025063]
synonym: "disorder, chromosome" RELATED [MESH:D025063]
synonym: "disorder, chromosome Abnormality" RELATED [MESH:D025063]
synonym: "disorders, chromosomal" RELATED [MESH:D025063]
synonym: "disorders, chromosome" RELATED [MESH:D025063]
xref: DOID:0080014 {source="MONDO:equivalentTo"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D025063 {source="MONDO:equivalentTo"}
xref: NCIT:C34470 {source="MONDO:equivalentTo"}
xref: Orphanet:68335 {source="MONDO:equivalentTo"}
xref: SCTID:409709004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.81/11.58"}
is_a: MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="NCIT:C34470", source="Orphanet:68335"} ! Mendelian disease
is_a: MONDO:0019755 {source="Orphanet:68335"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008626
property_value: exactMatch DOID:0080014
property_value: exactMatch http://identifiers.org/mesh/D002869
property_value: exactMatch http://identifiers.org/mesh/D025063
property_value: exactMatch http://identifiers.org/snomedct/409709004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008625
property_value: exactMatch NCIT:C34470
property_value: exactMatch Orphanet:68335

[Term]
id: MONDO:0019041
name: obsolete rare genetic inherited tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68336"}
synonym: "rare genetic tumor" RELATED [Orphanet:68336]
xref: Orphanet:68336 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN205525 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205525
property_value: exactMatch Orphanet:68336
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0019042
name: multiple congenital anomalies/dysmorphic syndrome
subset: ordo_group_of_disorders {source="Orphanet:68341"}
synonym: "MCAHS" RELATED [MONDO:Lexical]
xref: OMIMPS:614080 {source="MONDO:equivalentTo"}
xref: Orphanet:68341 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:68341"} ! developmental defect during embryogenesis
property_value: exactMatch Orphanet:68341

[Term]
id: MONDO:0019043
name: obsolete rare genetic skin disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68346"}
synonym: "rare genodermatosis" EXACT [Orphanet:68346]
xref: Orphanet:68346 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:68346
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005093
consider: UMLS:C0037277 {source="Orphanet:68346"}

[Term]
id: MONDO:0019044
name: tumor of hematopoietic and lymphoid tissues
subset: ordo_group_of_disorders {source="Orphanet:68347"}
xref: Orphanet:68347 {source="MONDO:equivalentTo"}
xref: UMLS:CN205528 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205528
property_value: exactMatch Orphanet:68347

[Term]
id: MONDO:0019045
name: obsolete rare sleep disorder
def: "A rare form of sleep disorder." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68354"}
synonym: "rare sleep disorder" EXACT [MONDO:patterns/rare]
synonym: "rare sleep wake disorder" EXACT [MONDO:patterns/rare]
synonym: "rare sleep-wake disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:68354 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:68354
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003406
consider: MedDRA:10040984 {source="ORDO:68354/e", source="Orphanet:68354"}
consider: MESH:D012893 {source="MONDO:relatedTo", source="ORDO:68354/e", source="Orphanet:68354"}
consider: UMLS:C0851578 {source="ORDO:68354/e", source="Orphanet:68354"}

[Term]
id: MONDO:0019046
name: leukodystrophy
def: "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." [https://rarediseases.org/rare-diseases/leukodystrophy/]
comment: Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'
subset: gard_rare {source="GARD:0006895"}
subset: merged_class
subset: ordo_group_of_disorders {source="Orphanet:68356"}
synonym: "HLD" EXACT [DOID:0060786]
synonym: "hypomyelinating leukodystrophy" EXACT [MONDO:0000825]
synonym: "hypomyelinating leukoencephalopathy" RELATED [MONDO:cjm]
synonym: "leukodystrophy, hypomyelinating" RELATED [OMIMPS:312080]
xref: COHD:374912 {source="MONDO:equivalentTo"}
xref: DOID:0050987 {source="MONDO:equivalentTo"}
xref: DOID:0060786 {source="MONDO:equivalentTo"}
xref: DOID:10579 {source="MONDO:equivalentTo"}
xref: GARD:0006895 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:68356/ntbt", source="ORDO:68356/index", source="Orphanet:68356"}
xref: ICD9:330.0 {source="DOID:10579", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10024381 {source="ORDO:68356/e", source="Orphanet:68356"}
xref: NCIT:C61253 {source="DOID:10579", source="MONDO:equivalentTo"}
xref: OMIMPS:312080 {source="MONDO:equivalentTo", source="DOID:0060786"}
xref: Orphanet:68356 {source="MONDO:equivalentTo"}
xref: SCTID:192781003 {source="DOID:10579", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0023520 {source="DOID:10579", source="MONDO:equivalentTo", source="NCIT:C61253", source="ORDO:68356/e", source="Orphanet:68356"}
xref: UMLS:CN228461 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/192785007
property_value: closeMatch http://identifiers.org/snomedct/5101009
property_value: exactMatch DOID:0050987
property_value: exactMatch DOID:0060786
property_value: exactMatch DOID:10579
property_value: exactMatch http://identifiers.org/meddra/10024381
property_value: exactMatch http://identifiers.org/snomedct/192781003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN228461
property_value: exactMatch NCIT:C61253
property_value: exactMatch Orphanet:68356
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy xsd:anyURI {source="GARD:0006895"}

[Term]
id: MONDO:0019047
name: obsolete rare deafness
def: "Any of the forms of hearing loss that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68361"}
synonym: "complete deafness" EXACT [NCIT:C36194]
synonym: "rare hearing loss" EXACT [MONDO:patterns/rare]
synonym: "total deafness" EXACT [NCIT:C36194]
xref: NCIT:C36194 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68361 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227564 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227564
property_value: exactMatch NCIT:C36194
property_value: exactMatch Orphanet:68361
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005365
consider: UMLS:C0581883 {source="Orphanet:68361"}
consider: UMLS:C3711374 {source="Orphanet:68361"}

[Term]
id: MONDO:0019048
name: obsolete rare vascular disease
def: "Any of the forms of vascular disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68362"}
synonym: "rare vascular disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:68362 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:68362
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005385
consider: UMLS:C0042373 {source="MONDO:subClassOf", source="Orphanet:68362"}

[Term]
id: MONDO:0019049
name: obsolete rare dystonia
def: "Rare dystonia." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68363"}
synonym: "rare dystonia" EXACT []
synonym: "rare dystonia (disease)" EXACT [MONDO:patterns/rare]
synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare, Orphanet:68363]
xref: Orphanet:68363 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:68363
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003441
consider: UMLS:C0393593 {source="Orphanet:68363"}

[Term]
id: MONDO:0019050
name: inherited hemoglobinopathy
def: "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." [NCIT:C3092]
subset: ordo_group_of_disorders {source="Orphanet:68364"}
synonym: "hemoglobinopathies" EXACT [DOID:2860]
synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092]
synonym: "hemoglobinopathy" RELATED [DOID:2860]
synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary]
xref: COHD:432868 {source="MONDO:equivalentTo"}
xref: DOID:2860 {source="MONDO:equivalentTo"}
xref: GARD:0012455 {source="MONDO:equivalentTo"}
xref: ICD10:D56.0 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"}
xref: ICD10:D56.1 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D56.2 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"}
xref: ICD10:D56.3 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"}
xref: ICD10:D56.4 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D56.8 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D56.9 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D57.0 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D57.1 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D57.2 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D57.3 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D57.8 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D58.0 {source="ORDO:68364/btnt", source="MONDO:relatedTo", source="Orphanet:68364"}
xref: ICD10:D58.1 {source="ORDO:68364/btnt", source="MONDO:relatedTo", source="Orphanet:68364"}
xref: ICD10:D58.2 {source="DOID:2860", source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D58.8 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD10:D58.9 {source="ORDO:68364/btnt", source="Orphanet:68364"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10060892 {source="ORDO:68364/e", source="Orphanet:68364"}
xref: MESH:D006453 {source="DOID:2860", source="MONDO:equivalentTo", source="ORDO:68364/e", source="Orphanet:68364", source="MONDO:ontobio"}
xref: NCIT:C3092 {source="DOID:2860", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:68364 {source="MONDO:equivalentTo"}
xref: SCTID:427306008 {source="MONDO:equivalentTo"}
xref: UMLS:C0019045 {source="DOID:2860", source="MONDO:equivalentTo", source="ORDO:68364/e", source="Orphanet:68364", source="NCIT:C3092"}
xref: UMLS:C1960031 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0044348 {source="MONDO:Redundant", source="linkedlifedata"} ! hemoglobinopathy
intersection_of: MONDO:0044348 ! hemoglobinopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0003689 {source="DOID:2860"} ! familial hemolytic anemia
property_value: closeMatch http://identifiers.org/snomedct/154794008
property_value: closeMatch http://identifiers.org/snomedct/267556002
property_value: exactMatch DOID:2860
property_value: exactMatch http://identifiers.org/meddra/10060892
property_value: exactMatch http://identifiers.org/mesh/D006453
property_value: exactMatch http://identifiers.org/snomedct/427306008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960031
property_value: exactMatch NCIT:C3092
property_value: exactMatch Orphanet:68364

[Term]
id: MONDO:0019051
name: obsolete lysosomal disease
is_obsolete: true
replaced_by: MONDO:0002561

[Term]
id: MONDO:0019052
name: inborn errors of metabolism
def: "Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." [https://github.com/monarch-initiative/mondo/issues/1483, MONDO:cjm, NCIT:C34816]
subset: ordo_group_of_disorders {source="Orphanet:68367"}
synonym: "congenital metabolic disorder" EXACT [NCIT:C34816]
synonym: "congenital metabolism disorder" EXACT [NCIT:C34816]
synonym: "hereditary metabolic disease" EXACT [MONDO:patterns/hereditary]
synonym: "inborn error of metabolism" EXACT [NCIT:C34816]
synonym: "inborn errors of metabolism" EXACT [DOID:655, NCIT:C34816]
synonym: "inborn metabolism disorder" EXACT [CSP2005:1849-0057, DOID:655]
synonym: "inherited metabolic disorder" EXACT [MONDO:0003919]
synonym: "metabolic hereditary disorder" EXACT [DOID:655]
synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367]
synonym: "rare inherited metabolic disorder" NARROW []
synonym: "rare metabolic disease" RELATED [Orphanet:68367]
xref: DOID:655 {source="MONDO:equivalentTo"}
xref: MedDRA:10058097 {source="ORDO:68367/e", source="Orphanet:68367"}
xref: MedDRA:10062018 {source="ORDO:68367/e", source="Orphanet:68367"}
xref: MESH:D008661 {source="DOID:655", source="MONDO:equivalentTo", source="ORDO:68367/e", source="MONDO:ontobio", source="Orphanet:68367"}
xref: NCIT:C34816 {source="DOID:655", source="MONDO:equivalentTo"}
xref: Orphanet:68367 {source="MONDO:equivalentTo", source="note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1"}
xref: SCTID:86095007 {source="DOID:655", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.50"}
xref: UMLS:C0025521 {source="DOID:655", source="NCIT:C34816", source="MONDO:equivalentTo", source="ORDO:68367/e", source="Orphanet:68367"}
is_a: MONDO:0003847 {source="MESH:D008661", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:68367", source="linkedlifedata"} ! Mendelian disease
is_a: MONDO:0005066 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="NCIT:C34816", source="OWLReasoner:2017", source="linkedlifedata"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/363205007
property_value: exactMatch DOID:655
property_value: exactMatch http://identifiers.org/meddra/10058097
property_value: exactMatch http://identifiers.org/meddra/10062018
property_value: exactMatch http://identifiers.org/mesh/D008661
property_value: exactMatch http://identifiers.org/snomedct/86095007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025521
property_value: exactMatch NCIT:C34816
property_value: exactMatch Orphanet:68367

[Term]
id: MONDO:0019053
name: peroxisomal disease
def: "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia." [NCIT:C85005]
subset: ordo_group_of_disorders {source="Orphanet:68373"}
synonym: "disorder of peroxisomal function" EXACT [NCIT:C85005]
synonym: "peroxisomal disorder" EXACT [DOID:906, ICD9CM_2006:277.86, NCIT:C85005]
synonym: "peroxisomal function disorder" EXACT [NCIT:C85005]
xref: COHD:441268 {source="MONDO:equivalentTo"}
xref: DOID:906 {source="MONDO:equivalentTo"}
xref: ICD10:E71.5 {source="DOID:906"}
xref: ICD10:E71.50 {source="DOID:906"}
xref: ICD9:277.86 {source="MONDO:equivalentTo", source="i2s", source="DOID:906"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C85005 {source="MONDO:equivalentTo", source="DOID:906", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:68373 {source="MONDO:equivalentTo"}
xref: SCTID:238059005 {source="MONDO:equivalentTo", source="DOID:906", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0282528 {source="MONDO:equivalentTo", source="ORDO:68373/e", source="Orphanet:68373", source="DOID:906", source="NCIT:C85005"}
is_a: MONDO:0019052 {source="DOID:906", source="MONDO:Redundant", source="NCIT:C85005", source="Orphanet:68373", source="linkedlifedata"} ! inborn errors of metabolism
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch DOID:906
property_value: exactMatch http://identifiers.org/mesh/D018901
property_value: exactMatch http://identifiers.org/snomedct/238059005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282528
property_value: exactMatch NCIT:C85005
property_value: exactMatch Orphanet:68373

[Term]
id: MONDO:0019054
name: congenital limb malformation
subset: ordo_group_of_disorders {source="Orphanet:68378"}
xref: Orphanet:68378 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:68378"} ! developmental defect during embryogenesis
property_value: exactMatch Orphanet:68378

[Term]
id: MONDO:0019055
name: obsolete mitochondrial disease
is_obsolete: true
replaced_by: MONDO:0004069

[Term]
id: MONDO:0019056
name: neuromuscular disease
def: "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" [https://en.wikipedia.org/wiki/Neuromuscular_disease]
subset: ordo_group_of_disorders {source="Orphanet:68381"}
synonym: "neuromuscular disease" EXACT [MONDO:0002986]
xref: DOID:440 {source="MONDO:equivalentTo"}
xref: EFO:1001902 {source="MONDO:equivalentTo"}
xref: ICD10:G70.9 {source="DOID:440"}
xref: ICD9:358 {source="DOID:440"}
xref: ICD9:358.9 {source="DOID:440"}
xref: MedDRA:10029323 {source="ORDO:68381/e", source="Orphanet:68381"}
xref: MESH:D009468 {source="ORDO:68381/e", source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440"}
xref: Orphanet:68381 {source="MONDO:equivalentTo"}
xref: UMLS:C0027868 {source="ORDO:68381/e", source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440"}
is_a: MONDO:0005244 ! peripheral neuropathy
property_value: closeMatch http://identifiers.org/snomedct/1664005
property_value: closeMatch http://identifiers.org/snomedct/193218007
property_value: closeMatch http://identifiers.org/snomedct/255522009
property_value: closeMatch http://identifiers.org/snomedct/257277002
property_value: exactMatch DOID:440
property_value: exactMatch http://identifiers.org/meddra/10029323
property_value: exactMatch http://identifiers.org/mesh/D009468
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027868
property_value: exactMatch Orphanet:68381

[Term]
id: MONDO:0019057
name: obsolete rare constitutional aplastic anemia
is_obsolete: true
replaced_by: MONDO:0001713

[Term]
id: MONDO:0019058
name: neurometabolic disease
subset: ordo_group_of_disorders {source="Orphanet:68385"}
xref: Orphanet:68385 {source="MONDO:equivalentTo"}
xref: UMLS:CN205539 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0019117 {source="Orphanet:68385"} ! genetic nervous system disorder
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205539
property_value: exactMatch Orphanet:68385

[Term]
id: MONDO:0019059
name: obsolete rare parkinsonian disorder
def: "Rare parkinsonian disorder." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68402"}
synonym: "rare hypokinetic movement disorder" EXACT [Orphanet:68402]
synonym: "rare parkinsonian disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:68402 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:68402
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021095
consider: UMLS:C0242422 {source="Orphanet:68402"}

[Term]
id: MONDO:0019060
name: bone neoplasm
def: "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." [NCIT:C9343]
subset: ordo_group_of_disorders {source="Orphanet:68411"}
synonym: "bone neoplasm" EXACT [NCIT:C9343]
synonym: "bone neoplasms" EXACT [NCIT:C9343]
synonym: "bone tissue neoplasm" EXACT []
synonym: "bone tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "bone tumor" EXACT [NCIT:C9343]
synonym: "bone tumors" EXACT [NCIT:C9343]
synonym: "neoplasm of bone" EXACT [NCIT:C9343]
synonym: "neoplasm of bone tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the bone" EXACT [NCIT:C9343]
synonym: "osseous neoplasm" EXACT [NCIT:C9343]
synonym: "osseous tumor" EXACT [NCIT:C9343]
synonym: "primary bone cancer" RELATED [GARD:0013223]
synonym: "primary malignant neoplasm of bone" RELATED [GARD:0013223]
synonym: "rare bone tumor" RELATED [Orphanet:68411]
synonym: "tumor of bone" EXACT [NCIT:C9343]
synonym: "tumor of bone tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the bone" EXACT [NCIT:C9343]
xref: GARD:0013223 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: NCIT:C9343 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BONE {source="MONDO:equivalentTo"}
xref: Orphanet:68411 {source="MONDO:equivalentTo"}
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:68411"} ! bone disease
is_a: MONDO:0021581 ! connective tissue neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019684", source="MONDO:0020031"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005967
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0262950
property_value: closeMatch NCIT:C12366
property_value: exactMatch NCIT:C9343
property_value: exactMatch Orphanet:68411

[Term]
id: MONDO:0019061
name: rare parathyroid disease and phosphocalcic metabolism anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68415"}
xref: Orphanet:68415 {source="MONDO:equivalentTo"}
xref: UMLS:CN205542 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:68415"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205542
property_value: exactMatch Orphanet:68415
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019062
name: obsolete rare infectious disease
def: "Rare infectious disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:68416"}
synonym: "rare infectious disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:68416 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN205543 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205543
property_value: exactMatch Orphanet:68416
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005550

[Term]
id: MONDO:0019063
name: vascular anomaly
comment: Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2
subset: ordo_group_of_disorders {source="Orphanet:68419"}
synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419]
xref: Orphanet:68419 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 ! vascular disease
relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419"} ! obsolete rare circulatory system disease
property_value: exactMatch Orphanet:68419

[Term]
id: MONDO:0019064
name: hereditary spastic paraplegia
def: "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." [Orphanet:685]
subset: gard_rare {source="GARD:0006637"}
subset: ordo_group_of_disorders {source="Orphanet:685"}
synonym: "familial spastic paraparesis" RELATED [GARD:0006637]
synonym: "familial spastic paraplegia" EXACT [DOID:2476, Orphanet:685]
synonym: "French settlement disease" EXACT [DOID:2476]
synonym: "FSP" RELATED [GARD:0006637]
synonym: "hereditary spastic paraparesis" EXACT [DOID:2476, Orphanet:685]
synonym: "HSP" EXACT [Orphanet:685]
synonym: "spastic paraplegia" BROAD [OMIMPS:303350]
synonym: "SPG" EXACT [Orphanet:685]
synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476]
synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685]
xref: COHD:192901 {source="MONDO:equivalentTo"}
xref: DOID:2476 {source="MONDO:equivalentTo"}
xref: GARD:0006637 {source="MONDO:equivalentTo"}
xref: ICD10:G11.4 {source="DOID:2476", source="MONDO:equivalentTo", source="ORDO:685/specific", source="ORDO:685/e", source="Orphanet:685"}
xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10019903 {source="ORDO:685/e", source="Orphanet:685"}
xref: MESH:D015419 {source="MONDO:equivalentTo"}
xref: NCIT:C140267 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.22"}
xref: OMIMPS:303350 {source="DOID:2476", source="MONDO:equivalentTo"}
xref: Orphanet:685 {source="MONDO:equivalentTo"}
xref: SCTID:39912006 {source="MONDO:kboom-pr-0.94/0.75/1.80", source="DOID:2476", source="MONDO:equivalentTo"}
is_a: MONDO:0003757 {source="DOID:2476", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraplegia
is_a: MONDO:0024237 {source="Orphanet:685"} ! inherited neurodegenerative disorder
property_value: closeMatch http://identifiers.org/snomedct/155013000
property_value: closeMatch http://identifiers.org/snomedct/267692008
property_value: exactMatch DOID:2476
property_value: exactMatch http://identifiers.org/meddra/10019903
property_value: exactMatch http://identifiers.org/mesh/D015419
property_value: exactMatch http://identifiers.org/snomedct/39912006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037773
property_value: exactMatch NCIT:C140267
property_value: exactMatch Orphanet:685
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia xsd:anyURI {source="GARD:0006637"}

[Term]
id: MONDO:0019065
name: amyloidosis (disease)
def: "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." [NCIT:C2868]
comment: Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes
subset: ordo_group_of_disorders {source="Orphanet:69"}
synonym: "amyloid" EXACT [NCIT:C2868]
synonym: "amyloid disease" EXACT [CSP2005:1849-1519, DOID:9120]
synonym: "amyloidoses" EXACT [MESH:D000686]
synonym: "amyloidosis" EXACT [MONDO:ambiguous]
synonym: "amyloidosis (disease)" EXACT [MONDO:0004711]
xref: COHD:432595 {source="MONDO:equivalentTo"}
xref: DOID:9120 {source="MONDO:equivalentTo"}
xref: EFO:1001875 {source="MONDO:equivalentTo"}
xref: HP:0011034 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E85 {source="DOID:9120"}
xref: ICD10:E85.0 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.1 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.2 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.3 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.4 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.8 {source="Orphanet:69", source="ORDO:69/btnt"}
xref: ICD10:E85.9 {source="Orphanet:69", source="ORDO:69/btnt", source="DOID:9120"}
xref: ICD9:277.3 {source="MONDO:equivalentTo", source="DOID:9120", source="i2s"}
xref: ICD9:277.30 {source="MONDO:equivalentTo", source="DOID:9120", source="i2s"}
xref: MedDRA:10002022 {source="Orphanet:69", source="ORDO:69/e"}
xref: MESH:D000686 {source="Orphanet:69", source="ORDO:69/e", source="MONDO:equivalentTo", source="DOID:9120"}
xref: NCIT:C2868 {source="MONDO:equivalentTo", source="DOID:9120", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: ONCOTREE:MIDDA {source="MONDO:equivalentTo"}
xref: Orphanet:69 {source="MONDO:equivalentTo"}
xref: SCTID:17602002 {source="MONDO:equivalentTo", source="DOID:9120", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0002726 {source="NCIT:C2868", source="Orphanet:69", source="ORDO:69/e", source="MONDO:equivalentTo", source="DOID:9120"}
is_a: MONDO:0015938 {source="Orphanet:69"} ! systemic disease
is_a: MONDO:0021179 {source="MESH:D000686"} ! proteostasis deficiencies
property_value: closeMatch http://identifiers.org/snomedct/154769007
property_value: closeMatch http://identifiers.org/snomedct/190931005
property_value: exactMatch DOID:9120
property_value: exactMatch http://identifiers.org/meddra/10002022
property_value: exactMatch http://identifiers.org/mesh/D000686
property_value: exactMatch http://identifiers.org/snomedct/17602002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002726
property_value: exactMatch NCIT:C2868
property_value: exactMatch Orphanet:69

[Term]
id: MONDO:0019066
name: syndrome with brachydactyly
def: "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." [Orphanet:69028]
subset: ordo_group_of_disorders {source="Orphanet:69028"}
synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028]
xref: ICD10:Q73.8 {source="ORDO:69028/attributed", source="ORDO:69028/ntbt", source="Orphanet:69028"}
xref: Orphanet:69028 {source="MONDO:equivalentTo"}
xref: UMLS:CN205546 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="MONDO:Redundant", source="Orphanet:69028"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0021004 ! brachydactyly (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205546
property_value: exactMatch Orphanet:69028

[Term]
id: MONDO:0019067
name: idiopathic steroid-sensitive nephrotic syndrome
def: "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." [Orphanet:69061]
subset: ordo_clinical_syndrome {source="Orphanet:69061"}
xref: ICD10:N04.0 {source="Orphanet:69061", source="ORDO:69061/attributed", source="ORDO:69061/ntbt"}
xref: Orphanet:69061 {source="MONDO:equivalentTo"}
is_a: MONDO:0018170 {source="Orphanet:69061"} ! idiopathic nephrotic syndrome
property_value: exactMatch Orphanet:69061

[Term]
id: MONDO:0019068
name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
def: "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." [Orphanet:69063]
subset: ordo_disease {source="Orphanet:69063"}
synonym: "alloimmune neonatal renal disease" EXACT [Orphanet:69063]
synonym: "fetomaternal alloimmunization with antenatal glomerulopathies" EXACT [Orphanet:69063]
synonym: "FMAIG" EXACT [Orphanet:69063]
synonym: "neonatal glomerulopathy due to Neprilysin alloimmunization" EXACT [Orphanet:69063]
synonym: "neonatal glomerulopathy due to neprilysin alloimmunization" EXACT [Orphanet:69063]
synonym: "neonatal membranous glomerulopathy with maternal NEP deficiency" EXACT [Orphanet:69063]
synonym: "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency" EXACT [Orphanet:69063]
xref: ICD10:P96.0 {source="Orphanet:69063", source="ORDO:69063/ntbt"}
xref: Orphanet:69063 {source="MONDO:equivalentTo"}
xref: SCTID:725592009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511239 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015163 {source="Orphanet:69063"} ! primary glomerular disease
property_value: exactMatch http://identifiers.org/snomedct/725592009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511239
property_value: exactMatch Orphanet:69063

[Term]
id: MONDO:0019069
name: obsolete rhabdoid tumor
is_obsolete: true
replaced_by: MONDO:0002728

[Term]
id: MONDO:0019070
name: obsolete liposarcoma
is_obsolete: true
replaced_by: MONDO:0005060

[Term]
id: MONDO:0019071
name: pure hair and nail ectodermal dysplasia
def: "Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." [Orphanet:69084]
subset: ordo_malformation_syndrome {source="Orphanet:69084"}
synonym: "hair-nail ectodermal dysplasia" EXACT [Orphanet:69084]
synonym: "HNED" EXACT [Orphanet:69084]
synonym: "PHNED" EXACT [Orphanet:69084]
xref: Orphanet:69084 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDOLEX:0019071", source="Orphanet:69084"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1865951
property_value: exactMatch Orphanet:69084

[Term]
id: MONDO:0019072
name: intrahepatic cholestasis
def: "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." [Orphanet:69665]
subset: ordo_disease {source="Orphanet:69665"}
synonym: "cholestasis, intrahepatic of pregnancy" RELATED [GARD:0009804]
synonym: "familial intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804]
synonym: "familial recurrent intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804]
synonym: "Gravidic intrahepatic cholestasis" EXACT [Orphanet:69665]
synonym: "gravidic intrahepatic cholestasis" EXACT [DOID:0070227]
synonym: "ICP" EXACT [DOID:0070227]
synonym: "intrahepatic cholestasis of pregnancy" EXACT [DOID:1852]
synonym: "pregnancy related cholestasis" EXACT [DOID:0070227, GARD:0009804]
synonym: "pregnancy-related cholestasis" EXACT [Orphanet:69665]
synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [DOID:0070227, Orphanet:69665]
synonym: "RICP" RELATED [GARD:0009804]
xref: DOID:0070227 {source="MONDO:equivalentTo"}
xref: DOID:1852 {source="MONDO:equivalentTo"}
xref: EFO:0009048 {source="MONDO:equivalentTo"}
xref: GARD:0009804 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:9804 {source="DOID:0070227"}
xref: ICD10:O26.6 {source="ORDO:69665/ntbt", source="Orphanet:69665"}
xref: MESH:D002780 {source="DOID:1852", source="MONDO:equivalentTo"}
xref: ORDO:69665 {source="DOID:0070227"}
xref: Orphanet:69665 {source="DOID:1852", source="MONDO:equivalentTo"}
xref: SCTID:235888006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0008372 {source="DOID:1852", source="MONDO:equivalentTo"}
is_a: MONDO:0001751 {source="DOID:1852", source="MESH:D002780"} ! cholestasis
is_a: MONDO:0024575 {source="Orphanet:69665"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0015115 {source="EFO:0009048", source="Orphanet:69665"} ! obsolete rare genetic metabolic liver disease
relationship: excluded_subClassOf MONDO:0019072 {source="DOID:0070227"} ! intrahepatic cholestasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015582"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/4637005
property_value: exactMatch DOID:0070227
property_value: exactMatch DOID:1852
property_value: exactMatch http://identifiers.org/mesh/C535932
property_value: exactMatch http://identifiers.org/mesh/D002780
property_value: exactMatch http://identifiers.org/snomedct/235888006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008372
property_value: exactMatch NCIT:C84400
property_value: exactMatch Orphanet:69665

[Term]
id: MONDO:0019073
name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
synonym: "glomerulonephritis with sparse hair and telangiectases" RELATED [OMIM:137940]
synonym: "HLTRS" RELATED [MONDO:Lexical, OMIM:137940]
synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [Orphanet:69735]
synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" EXACT [MONDO:Lexical, OMIM:137940]
synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; HLTRS" RELATED [OMIM:137940]
synonym: "telangiectatic membranoproliferative glomerulonephritis" RELATED [OMIM:137940]
xref: GARD:0002492 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C536825 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:137940 {source="Orphanet:69735", source="MONDO:equivalentTo"}
xref: UMLS:CN205563 {source="MONDO:equivalentTo"}
is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
is_a: MONDO:0015163 {source="Orphanet:69735"} ! primary glomerular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841989
property_value: exactMatch http://identifiers.org/mesh/C536825
property_value: exactMatch http://identifiers.org/omim/137940
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205563

[Term]
id: MONDO:0019074
name: bilateral acute depigmentation of the iris
def: "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure." [Orphanet:69736]
subset: ordo_disease {source="Orphanet:69736"}
synonym: "BADI" EXACT [Orphanet:69736]
xref: Orphanet:69736 {source="MONDO:equivalentTo"}
xref: SCTID:720460007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0011119 ! iridogoniodysgenesis
property_value: exactMatch http://identifiers.org/snomedct/720460007
property_value: exactMatch Orphanet:69736

[Term]
id: MONDO:0019075
name: Bosley-Salih-Alorainy syndrome
def: "gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS, see this term). However unlike ABDS, BSAS does not manifest central hypoventilation." [Orphanet:69737]
subset: ordo_malformation_syndrome {source="Orphanet:69737"}
xref: ICD10:Q87.8 {source="Orphanet:69737", source="ORDO:69737/attributed", source="ORDO:69737/ntbt"}
xref: Orphanet:69737 {source="MONDO:equivalentTo"}
is_a: MONDO:0011099 ! human HOXA1 syndromes
is_a: MONDO:0015506 {source="Orphanet:69737"} ! rare syndrome with cardiac malformations
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:69737"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832216
property_value: exactMatch Orphanet:69737

[Term]
id: MONDO:0019076
name: circumscribed palmoplantar hypokeratosis
def: "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin." [Orphanet:69744]
subset: ordo_disease {source="Orphanet:69744"}
xref: Orphanet:69744 {source="MONDO:equivalentTo"}
is_a: MONDO:0019274 {source="Orphanet:69744"} ! other epidermal disorder
property_value: exactMatch Orphanet:69744

[Term]
id: MONDO:0019077
name: warty dyskeratoma
def: "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." [NCIT:C4087]
subset: ordo_disease {source="Orphanet:69745"}
synonym: "follicular dyskeratoma" EXACT [Orphanet:69745]
synonym: "isolated follicular keratosis" EXACT [NCIT:C4087]
xref: MedDRA:10068856 {source="Orphanet:69745", source="ORDO:69745/e"}
xref: NCIT:C4087 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:69745 {source="MONDO:equivalentTo"}
xref: SCTID:254676008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334063 {source="Orphanet:69745", source="NCIT:C4087", source="MONDO:equivalentTo", source="ORDO:69745/e"}
is_a: MONDO:0002093 {source="NCIT:C4087"} ! acanthoma (disease)
is_a: MONDO:0019274 {source="Orphanet:69745"} ! other epidermal disorder
property_value: exactMatch http://identifiers.org/meddra/10068856
property_value: exactMatch http://identifiers.org/snomedct/254676008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334063
property_value: exactMatch NCIT:C4087
property_value: exactMatch Orphanet:69745

[Term]
id: MONDO:0019078
name: Ritscher-Schinzel syndrome
def: "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms)." [Orphanet:7]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:7"}
synonym: "3C syndrome" EXACT [DOID:0060565, GARD:0005666]
synonym: "CCC dysplasia" EXACT [DOID:0060565, MESH:C535313]
synonym: "cranio-cerebello-cardiac dysplasia" RELATED [GARD:0005666]
synonym: "Craniocerebellocardiac dysplasia" EXACT [Orphanet:7]
synonym: "craniocerebellocardiac dysplasia" EXACT [DOID:0060565]
synonym: "Dandy-Walker like malformation with atrioventricular septal defect" RELATED [GARD:0005666]
synonym: "Dandy-Walker-like malformation with ASD" RELATED [GARD:0005666]
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [MESH:C535313]
synonym: "Ritscher Schinzel syndrome" RELATED [GARD:0005666, MESH:C535313]
synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:0005666]
synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7]
xref: DOID:0060565 {source="MONDO:equivalentTo"}
xref: GARD:0005666 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:7", source="DOID:0060565", source="ORDO:7/attributed", source="ORDO:7/ntbt"}
xref: MESH:C535313 {source="ORDO:7/e", source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo"}
xref: OMIMPS:220210 {source="DOID:0060565", source="MONDO:equivalentTo"}
xref: Orphanet:7 {source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo"}
xref: SCTID:718556007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.67/1.29"}
xref: UMLS:C0796137 {source="ORDO:7/e", source="Orphanet:7", source="GARD:0005666", source="MEDGEN:kboom-pr97-c99", source="DOID:0060565", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:7", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:7"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017121 {source="Orphanet:7"} ! syndrome with a Dandy-Walker malformation as major feature
relationship: disease_has_feature MONDO:0009072 {source="MESH:C535313-modified"} ! Dandy-Walker syndrome
property_value: exactMatch DOID:0060565
property_value: exactMatch http://identifiers.org/mesh/C535313
property_value: exactMatch http://identifiers.org/snomedct/718556007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796137
property_value: exactMatch Orphanet:7
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect xsd:anyURI {source="GARD:0005666"}

[Term]
id: MONDO:0019079
name: proximal spinal muscular atrophy
def: "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:70]
subset: gard_rare {source="GARD:0004531"}
subset: ordo_disease {source="Orphanet:70"}
synonym: "SMA" EXACT [Orphanet:70]
xref: EFO:0008929 {source="MONDO:equivalentTo"}
xref: GARD:0004531 {source="MONDO:equivalentTo"}
xref: ICD10:G12.0 {source="ORDO:70/attributed", source="ORDO:70/ntbt", source="Orphanet:70"}
xref: ICD10:G12.1 {source="ORDO:70/attributed", source="ORDO:70/ntbt", source="Orphanet:70"}
xref: Orphanet:70 {source="MONDO:equivalentTo"}
xref: UMLS:C4024957 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205570 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-2825-0621"} ! spinal muscular atrophy
is_a: MONDO:0024257 ! hereditary motor neuron disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4024957
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205570
property_value: exactMatch Orphanet:70
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy xsd:anyURI {source="GARD:0004531"}

[Term]
id: MONDO:0019080
name: alopecia totalis
def: "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." [Orphanet:700]
subset: ordo_disease {source="Orphanet:700"}
synonym: "alopecia totalis" EXACT []
synonym: "total alopecia areata" RELATED []
xref: GARD:0000613 {source="MONDO:equivalentTo"}
xref: ICD10:L63.0 {source="ORDO:700/e", source="Orphanet:700", source="ORDO:700/specific"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10001766 {source="ORDO:700/e", source="Orphanet:700"}
xref: Orphanet:700 {source="MONDO:equivalentTo"}
xref: SCTID:19754005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0263504 {source="ORDO:700/e", source="Orphanet:700", source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:700", source="linkedlifedata"} ! alopecia
property_value: exactMatch http://identifiers.org/meddra/10001766
property_value: exactMatch http://identifiers.org/snomedct/19754005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263504
property_value: exactMatch Orphanet:700

[Term]
id: MONDO:0019081
name: obsolete alopecia universalis
is_obsolete: true
replaced_by: MONDO:0008757

[Term]
id: MONDO:0019082
name: bullous pemphigoid
def: "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." [Orphanet:703]
subset: ordo_disease {source="Orphanet:703"}
synonym: "benign pemphigus" RELATED [GARD:0005972]
synonym: "bullous pemphigoid" EXACT [DOID:8506, MONDO:0005685, MTH:NOCODE, MTHICD9_2006:694.5]
synonym: "Old Age pemphigus" RELATED [GARD:0005972]
synonym: "Parapemphigus" RELATED [GARD:0005972]
synonym: "pemphigoid" RELATED [GARD:0005972]
synonym: "Senile dermatitis herpetiformis" RELATED [GARD:0005972]
xref: COHD:4298692 {source="MONDO:equivalentTo"}
xref: DOID:8506 {source="MONDO:equivalentTo", source="EFO:0007187"}
xref: EFO:0007187 {source="MONDO:equivalentTo"}
xref: GARD:0005972 {source="MONDO:equivalentTo"}
xref: ICD10:L12 {source="DOID:8506"}
xref: ICD10:L12.0 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703"}
xref: ICD10:L12.9 {source="DOID:8506"}
xref: ICD9:694.5 {source="DOID:8506"}
xref: MESH:D010391 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187"}
xref: NCIT:C84389 {source="MONDO:equivalentTo", source="DOID:8506"}
xref: Orphanet:703 {source="MONDO:equivalentTo"}
xref: SCTID:77090002 {source="MONDO:equivalentTo", source="DOID:8506", source="MONDO:kboom-pr-0.93/0.84/0.20"}
xref: UMLS:C0030805 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="NCIT:C84389"}
is_a: MONDO:0019337 {source="EFO:0007187", source="Orphanet:703", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune bullous skin disease
property_value: closeMatch http://identifiers.org/snomedct/156356009
property_value: closeMatch http://identifiers.org/snomedct/200912002
property_value: closeMatch http://identifiers.org/snomedct/86142006
property_value: closeMatch NCIT:C34908
property_value: exactMatch DOID:8506
property_value: exactMatch http://identifiers.org/mesh/D010391
property_value: exactMatch http://identifiers.org/snomedct/77090002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030805
property_value: exactMatch NCIT:C84389
property_value: exactMatch Orphanet:703

[Term]
id: MONDO:0019083
name: Leigh syndrome with cardiomyopathy
subset: ordo_disease {source="Orphanet:70474"}
synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474]
synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474]
synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474]
xref: ICD10:G31.8 {source="Orphanet:70474", source="ORDO:70474/attributed", source="ORDO:70474/ntbt"}
xref: Orphanet:70474 {source="MONDO:equivalentTo"}
xref: UMLS:CN205578 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009723 {source="indirect", comment="Orphanet:70474"} ! Leigh syndrome
intersection_of: MONDO:0009723 ! Leigh syndrome
intersection_of: disease_has_feature MONDO:0004994 ! cardiomyopathy
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205578
property_value: exactMatch Orphanet:70474

[Term]
id: MONDO:0019084
name: radiation proctitis
def: "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." [Orphanet:70475]
subset: ordo_disease {source="Orphanet:70475"}
xref: ICD10:K62.7 {source="ORDO:70475/e", source="Orphanet:70475", source="MONDO:equivalentTo"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037766 {source="ORDO:70475/e", source="Orphanet:70475"}
xref: Orphanet:70475 {source="MONDO:equivalentTo"}
xref: SCTID:235760009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005538 ! proctitis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10037766
property_value: exactMatch http://identifiers.org/snomedct/235760009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0400827
property_value: exactMatch Orphanet:70475

[Term]
id: MONDO:0019085
name: vernal keratoconjunctivitis
def: "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." [https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis]
subset: gard_rare {source="GARD:0007854"}
subset: ordo_disease {source="Orphanet:70476"}
synonym: "Spring catarrh" EXACT [Orphanet:70476]
synonym: "VKC" RELATED [GARD:0007854]
xref: GARD:0007854 {source="MONDO:equivalentTo"}
xref: ICD10:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="ORDO:70476/ntbt"}
xref: Orphanet:70476 {source="MONDO:equivalentTo"}
xref: SCTID:317349009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0022577 {source="ORDO:70476/e", source="MONDO:equivalentTo", source="Orphanet:70476"}
is_a: MONDO:0015937 {source="Orphanet:70476"} ! rare inflammatory eye disease
is_a: MONDO:0020211 {source="Orphanet:70476"} ! syndromic keratoconus
property_value: exactMatch http://identifiers.org/snomedct/317349009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022577
property_value: exactMatch Orphanet:70476
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis xsd:anyURI {source="GARD:0007854"}

[Term]
id: MONDO:0019086
name: carcinoma of esophagus
def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) (see these terms)." [Orphanet:70482]
subset: ordo_group_of_disorders {source="Orphanet:70482"}
synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513]
synonym: "cancer of oesophagus" NARROW [DOID:1107]
synonym: "cancer of the esophagus" NARROW [NCIT:C3513]
synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513]
synonym: "carcinoma of oesophagus" EXACT [DOID:1107]
synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513]
synonym: "esophageal cancer" NARROW [NCIT:C3513]
synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513]
synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482]
synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513]
xref: DOID:1107 {source="MONDO:equivalentTo"}
xref: EFO:0002916 {source="MONDO:equivalentTo", source="DOID:1107"}
xref: MedDRA:10030155 {source="Orphanet:70482", source="ORDO:70482/e"}
xref: NCIT:C3513 {source="MONDO:equivalentTo", source="DOID:1107"}
xref: Orphanet:70482 {source="MONDO:equivalentTo"}
xref: SCTID:372138000 {source="MONDO:kboom-pr-0.89/0.76/0.33", source="MONDO:equivalentTo", source="DOID:1107"}
xref: UMLS:C0152018 {source="Orphanet:70482", source="MONDO:equivalentTo", source="DOID:1107", source="NCIT:C3513", source="ORDO:70482/e"}
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3513", source="OWLReasoner:2017"} ! digestive system carcinoma
is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Redundant", source="MONDOLEX:0019086", source="NCIT:C3513", source="linkedlifedata"} ! esophageal cancer
property_value: closeMatch http://identifiers.org/snomedct/154441003
property_value: closeMatch http://identifiers.org/snomedct/255079005
property_value: closeMatch http://identifiers.org/snomedct/93785002
property_value: exactMatch DOID:1107
property_value: exactMatch http://identifiers.org/meddra/10030155
property_value: exactMatch http://identifiers.org/snomedct/372138000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152018
property_value: exactMatch NCIT:C3513
property_value: exactMatch Orphanet:70482

[Term]
id: MONDO:0019087
name: cholangiocarcinoma
def: "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C4436]
subset: ordo_disease {source="Orphanet:70567"}
synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947, NCIT:C8265]
synonym: "adult primary cholangiocellular carcinoma" EXACT [DOID:4947]
synonym: "bile duct cancer" EXACT [Orphanet:70567]
synonym: "CC" BROAD [NCIT:C4436]
synonym: "CC" EXACT [NCIT:C4436]
synonym: "CCA" EXACT [Orphanet:70567]
synonym: "Cholangiocar.- intra/extrahepatic" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma, malignant" EXACT [NCIT:C4436]
synonym: "Cholangiocellular carcinoma" EXACT [NCIT:C4436]
synonym: "cholangiosarcoma" EXACT [DOID:4947, NCIT:C4436]
synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C4436]
xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"}
xref: EFO:0005221 {source="MONDO:equivalentTo"}
xref: GARD:0009304 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C22.1 {source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947"}
xref: ICD10:C24.0 {source="ORDO:70567/btnt", source="Orphanet:70567"}
xref: ICD10:C24.8 {source="ORDO:70567/btnt", source="Orphanet:70567"}
xref: ICD10:C24.9 {source="ORDO:70567/btnt", source="Orphanet:70567"}
xref: ICDO:8160/3 {source="NCIT:C4436"}
xref: MedDRA:10004593 {source="ORDO:70567/e", source="Orphanet:70567"}
xref: MedDRA:10008593 {source="ORDO:70567/e", source="Orphanet:70567"}
xref: MESH:D018281 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221"}
xref: NCIT:C4436 {source="MONDO:equivalentTo", source="DOID:4947", source="EFO:0005221"}
xref: ONCOTREE:CHOL {source="MONDO:equivalentTo"}
xref: Orphanet:70567 {source="MONDO:equivalentTo"}
xref: SCTID:312104005 {source="MONDO:equivalentTo", source="DOID:4947"}
xref: UMLS:C0206698 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="NCIT:C4436"}
is_a: MONDO:0018536 ! adenocarcinoma of gallbladder and extrahepatic biliary tract
property_value: closeMatch http://identifiers.org/snomedct/70179006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0280725
property_value: closeMatch NCIT:C8265
property_value: exactMatch DOID:4947
property_value: exactMatch http://identifiers.org/meddra/10004593
property_value: exactMatch http://identifiers.org/meddra/10008593
property_value: exactMatch http://identifiers.org/mesh/D001650
property_value: exactMatch http://identifiers.org/mesh/D018281
property_value: exactMatch http://identifiers.org/snomedct/312104005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206698
property_value: exactMatch NCIT:C4436
property_value: exactMatch Orphanet:70567

[Term]
id: MONDO:0019088
name: post-transplant lymphoproliferative disease
def: "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:0009553"}
subset: ordo_disease {source="Orphanet:70568"}
synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727]
synonym: "PTLD" EXACT [Orphanet:70568]
xref: GARD:0009553 {source="MONDO:equivalentTo"}
xref: ICD10:D47.9 {source="ORDO:70568/ntbt", source="Orphanet:70568"}
xref: ICDO:9971/1 {source="NCIT:C4727"}
xref: MedDRA:10051358 {source="ORDO:70568/e", source="Orphanet:70568"}
xref: NCIT:C4727 {source="MONDO:equivalentTo"}
xref: Orphanet:70568 {source="MONDO:equivalentTo"}
xref: SCTID:254290004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432487 {source="NCIT:C4727", source="MONDO:equivalentTo", source="ORDO:70568/e", source="Orphanet:70568"}
is_a: MONDO:0015760 {source="Orphanet:70568"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0017343 {source="Orphanet:70568"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0020083 {source="Orphanet:70568"} ! immunodeficiency-associated lymphoproliferative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2367985
property_value: exactMatch http://identifiers.org/meddra/10051358
property_value: exactMatch http://identifiers.org/snomedct/254290004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432487
property_value: exactMatch NCIT:C4727
property_value: exactMatch Orphanet:70568
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease xsd:anyURI {source="GARD:0009553"}

[Term]
id: MONDO:0019089
name: obsolete adult acute respiratory distress syndrome
is_obsolete: true
replaced_by: MONDO:0006502

[Term]
id: MONDO:0019090
name: obsolete meconium aspiration syndrome
is_obsolete: true
replaced_by: MONDO:0006851

[Term]
id: MONDO:0019091
name: bronchopulmonary dysplasia
def: "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." [Orphanet:70589]
subset: gard_rare {source="GARD:0005962"}
subset: ordo_malformation_syndrome {source="Orphanet:70589"}
synonym: "BPD" EXACT [Orphanet:70589]
xref: GARD:0005962 {source="MONDO:equivalentTo"}
xref: ICD10:P27.1 {source="ORDO:70589/e", source="Orphanet:70589"}
xref: MedDRA:10006475 {source="ORDO:70589/e", source="Orphanet:70589"}
xref: MESH:D001997 {source="MONDO:equivalentTo", source="ORDO:70589/e", source="Orphanet:70589", source="MONDO:ontobio"}
xref: NCIT:C90599 {source="MONDO:kboom-pr-0.92/0.79/0.77", source="MONDO:equivalentTo"}
xref: Orphanet:70589 {source="MONDO:equivalentTo"}
xref: SCTID:67569000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:C0006287 {source="NCIT:C90599", source="MONDO:equivalentTo", source="ORDO:70589/e", source="Orphanet:70589"}
is_a: MONDO:0015221 {source="Orphanet:70589"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:70589"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/meddra/10006475
property_value: exactMatch http://identifiers.org/mesh/D001997
property_value: exactMatch http://identifiers.org/snomedct/67569000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006287
property_value: exactMatch NCIT:C90599
property_value: exactMatch Orphanet:70589
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia xsd:anyURI {source="GARD:0005962"}

[Term]
id: MONDO:0019092
name: infantile apnea
def: "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." [Orphanet:70590]
subset: ordo_disease {source="Orphanet:70590"}
synonym: "apnea of infancy" EXACT [Orphanet:70590]
xref: GARD:0006779 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:70590 {source="MONDO:equivalentTo"}
xref: SCTID:724229002 {source="MONDO:equivalentTo"}
xref: UMLS:C0745261 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205590 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005087 {source="Orphanet:70590"} ! respiratory system disease
property_value: exactMatch http://identifiers.org/snomedct/724229002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0745261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205590
property_value: exactMatch Orphanet:70590

[Term]
id: MONDO:0019093
name: immunodeficiency due to selective anti-polysaccharide antibody deficiency
def: "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." [Orphanet:70593]
subset: ordo_disease {source="Orphanet:70593"}
synonym: "specific antibody deficiency" RELATED [GARD:0011903]
xref: GARD:0011903 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D80.8 {source="Orphanet:70593", source="ORDO:70593/attributed", source="ORDO:70593/ntbt"}
xref: Orphanet:70593 {source="MONDO:equivalentTo"}
xref: SCTID:234556002 {source="MONDO:equivalentTo"}
xref: UMLS:C0398711 {source="MONDO:equivalentTo"}
is_a: MONDO:0015711 {source="Orphanet:70593"} ! specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
property_value: exactMatch http://identifiers.org/snomedct/234556002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398711
property_value: exactMatch Orphanet:70593

[Term]
id: MONDO:0019094
name: congenital Epstein-Barr virus infection
def: "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." [Orphanet:70596]
subset: ordo_disease {source="Orphanet:70596"}
synonym: "antenatal EBV infection" EXACT [Orphanet:70596]
synonym: "antenatal Epstein-Barr virus infection" EXACT [Orphanet:70596]
synonym: "congenital EBV infection" EXACT [Orphanet:70596]
synonym: "mother-to-child transmission of Epstein-Barr virus infection" EXACT [Orphanet:70596]
xref: ICD10:P35.8 {source="Orphanet:70596", source="ORDO:70596/ntbt"}
xref: Orphanet:70596 {source="MONDO:equivalentTo"}
xref: SCTID:716660007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274357 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="Orphanet:70596"} ! viral infectious disease
is_a: MONDO:0016511 {source="Orphanet:70596"} ! infectious embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/716660007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274357
property_value: exactMatch Orphanet:70596

[Term]
id: MONDO:0019095
name: plague
def: "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." [Orphanet:707]
subset: ordo_disease {source="Orphanet:707"}
synonym: "black death" RELATED []
synonym: "infection by Yersinia pestis" RELATED []
synonym: "pest" RELATED []
synonym: "pestilential fever" RELATED []
synonym: "plague" EXACT []
synonym: "Yersiniosis" BROAD [Orphanet:707]
xref: DOID:3482 {source="MONDO:equivalentTo"}
xref: ICD10:A20 {source="MONDO:equivalentTo", source="DOID:3482"}
xref: ICD10:A20.0 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"}
xref: ICD10:A20.1 {source="ORDO:707/btnt", source="Orphanet:707"}
xref: ICD10:A20.2 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"}
xref: ICD10:A20.3 {source="ORDO:707/btnt", source="Orphanet:707"}
xref: ICD10:A20.7 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"}
xref: ICD10:A20.8 {source="ORDO:707/btnt", source="Orphanet:707"}
xref: ICD10:A20.9 {source="ORDO:707/btnt", source="Orphanet:707", source="DOID:3482"}
xref: ICD9:020 {source="DOID:3482"}
xref: ICD9:020.9 {source="DOID:3482"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10035148 {source="ORDO:707/e", source="Orphanet:707"}
xref: MedDRA:10061416 {source="ORDO:707/e", source="Orphanet:707"}
xref: MESH:D010930 {source="MONDO:equivalentTo", source="ORDO:707/e", source="Orphanet:707", source="DOID:3482"}
xref: NCIT:C85015 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06", source="DOID:3482"}
xref: Orphanet:707 {source="MONDO:equivalentTo"}
xref: SCTID:58750007 {source="MONDO:equivalentTo", source="DOID:3482"}
xref: UMLS:C0032064 {source="MONDO:equivalentTo", source="ORDO:707/e", source="Orphanet:707", source="NCIT:C85015", source="DOID:3482"}
is_a: MONDO:0000314 {source="DOID:3482"} ! primary bacterial infectious disease
is_a: MONDO:0007023 ! Yersinia infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/186290009
property_value: closeMatch http://identifiers.org/snomedct/187298009
property_value: exactMatch DOID:3482
property_value: exactMatch http://identifiers.org/meddra/10035148
property_value: exactMatch http://identifiers.org/meddra/10061416
property_value: exactMatch http://identifiers.org/mesh/D010930
property_value: exactMatch http://identifiers.org/mesh/D015009
property_value: exactMatch http://identifiers.org/snomedct/58750007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043407
property_value: exactMatch NCIT:C85015
property_value: exactMatch Orphanet:707

[Term]
id: MONDO:0019096
name: obsolete rare pulmonary hypertension
def: "Rare pulmonary hypertension." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:71198"}
synonym: "rare pulmonary hypertension" EXACT [MONDO:patterns/rare]
xref: Orphanet:71198 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227571 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227571
property_value: exactMatch Orphanet:71198
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005149

[Term]
id: MONDO:0019097
name: hemorrhagic disorder due to a constitutional platelet anomaly
def: "A hemorrhagic disorder due to a platelet anomaly which occurs from birth." [https://orcid.org/0000-0001-5208-3432]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:71202"}
synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
xref: ICD10:D69.1 {source="Orphanet:71202", source="ORDO:71202/attributed", source="ORDO:71202/ntbt"}
xref: Orphanet:71202 {source="MONDO:equivalentTo"}
xref: UMLS:CN227572 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="MONDO:cjm"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0016629 {source="Orphanet:71202"} ! hemorrhagic disorder due to a platelet anomaly
is_a: MONDO:0021181 {source="MONDO:Redundant", source="Orphanet:71202", source="indirect"} ! inherited blood coagulation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227572
property_value: exactMatch Orphanet:71202
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019098
name: autoimmune thrombocytopenia
def: "An autoimmune form of thrombocytopenia." [MONDO:patterns/autoimmune]
subset: ordo_group_of_disorders {source="Orphanet:71203"}
xref: ICD10:D69.3 {source="ORDO:71203/ntbt", source="Orphanet:71203"}
xref: MedDRA:10050245 {source="ORDO:71203/e", source="Orphanet:71203"}
xref: Orphanet:71203 {source="MONDO:equivalentTo"}
xref: SCTID:128091003 {source="MONDO:equivalentTo"}
xref: UMLS:C0242584 {source="ORDO:71203/e", source="MONDO:equivalentTo", source="Orphanet:71203"}
is_a: MONDO:0002049 ! thrombocytopenia
is_a: MONDO:0007179 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! autoimmune disease
is_a: MONDO:0016631 {source="Orphanet:71203"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: exactMatch http://identifiers.org/meddra/10050245
property_value: exactMatch http://identifiers.org/snomedct/128091003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242584
property_value: exactMatch Orphanet:71203

[Term]
id: MONDO:0019099
name: obsolete rare soft tissue tumor
def: "Any of the forms of soft tissue neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:71209"}
synonym: "rare mesenchymal tumor" EXACT [Orphanet:71209]
synonym: "rare soft tissue neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:71209 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:71209
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006424
consider: UMLS:C0037579 {source="Orphanet:71209"}

[Term]
id: MONDO:0019100
name: neuromyelitis optica
def: "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." [Orphanet:71211]
subset: gard_rare {source="GARD:0006267"}
subset: ordo_disease {source="Orphanet:71211"}
synonym: "Devic disease" EXACT [Orphanet:71211]
synonym: "Devic syndrome" RELATED [GARD:0006267]
synonym: "Devic's disease" EXACT [DOID:8869, ICD10:G36.0]
synonym: "Devic's neuromyelitis optica" RELATED [GARD:0006267]
synonym: "Devic's syndrome" EXACT [DOID:8869]
synonym: "NMO" RELATED [GARD:0006267]
xref: COHD:380995 {source="MONDO:equivalentTo"}
xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"}
xref: EFO:0004256 {source="MONDO:equivalentTo", source="DOID:8869"}
xref: GARD:0006267 {source="MONDO:equivalentTo"}
xref: ICD10:G36.0 {source="ORDO:71211/e", source="Orphanet:71211", source="DOID:8869"}
xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="i2s"}
xref: MedDRA:10029322 {source="ORDO:71211/e", source="Orphanet:71211"}
xref: MESH:D009471 {source="ORDO:71211/e", source="EFO:0004256", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:ontobio"}
xref: NCIT:C84934 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:71211 {source="MONDO:equivalentTo"}
xref: SCTID:25044007 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:kboom-pr-1.00/0.77/6.29"}
xref: UMLS:C0027873 {source="ORDO:71211/e", source="NCIT:C84934", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869"}
is_a: MONDO:0005301 {source="EFO:0004256"} ! multiple sclerosis
is_a: MONDO:0016428 {source="Orphanet:71211"} ! multiple sclerosis variant
property_value: exactMatch DOID:8869
property_value: exactMatch http://identifiers.org/meddra/10029322
property_value: exactMatch http://identifiers.org/mesh/D009471
property_value: exactMatch http://identifiers.org/snomedct/25044007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027873
property_value: exactMatch NCIT:C84934
property_value: exactMatch Orphanet:71211
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica xsd:anyURI {source="GARD:0006267"}

[Term]
id: MONDO:0019101
name: retinal capillary malformation
def: "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." [Orphanet:71213]
subset: ordo_disease {source="Orphanet:71213"}
xref: ICD10:D18.0 {source="Orphanet:71213", source="ORDO:71213/attributed", source="ORDO:71213/ntbt"}
xref: Orphanet:71213 {source="MONDO:equivalentTo"}
is_a: MONDO:0015145 {source="Orphanet:71213"} ! neurovascular malformation
is_a: MONDO:0015953 {source="Orphanet:71213", source="Orphanet:71213/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0018729 {source="MONDO:Redundant", source="Orphanet:71213"} ! genetic vascular tumor
is_a: MONDO:0020247 {source="Orphanet:71213"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0021231 ! retina neoplasm
is_a: MONDO:0021581 ! connective tissue neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730304
property_value: exactMatch Orphanet:71213

[Term]
id: MONDO:0019102
name: dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
def: "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:71267]
subset: ordo_malformation_syndrome {source="Orphanet:71267"}
xref: Orphanet:71267 {source="MONDO:equivalentTo"}
xref: SCTID:721089006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:CN205609 {source="MONDO:equivalentTo"}
is_a: MONDO:0015877 {source="Orphanet:71267"} ! malformative syndrome with dentinogenesis imperfecta
is_a: MONDO:0019589 {source="Orphanet:71267"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/721089006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205609
property_value: exactMatch Orphanet:71267

[Term]
id: MONDO:0019103
name: benign exophthalmos syndrome
def: "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." [Orphanet:71269]
subset: ordo_disease {source="Orphanet:71269"}
synonym: "bes" EXACT [Orphanet:71269]
xref: ICD10:H05.2 {source="ORDO:71269/ntbt", source="Orphanet:71269"}
xref: Orphanet:71269 {source="MONDO:equivalentTo"}
xref: SCTID:719519007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4304668 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/719519007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304668
property_value: exactMatch Orphanet:71269

[Term]
id: MONDO:0019104
name: Sandifer syndrome
def: "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." [Orphanet:71272]
subset: gard_rare {source="GARD:0009684"}
subset: ordo_disease {source="Orphanet:71272"}
synonym: "Sandifer's syndrome" RELATED [GARD:0009684]
xref: GARD:0009684 {source="MONDO:equivalentTo"}
xref: MedDRA:10066142 {source="ORDO:71272/e", source="Orphanet:71272"}
xref: MESH:C537234 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:71272/e", source="Orphanet:71272"}
xref: NCIT:C113397 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:71272 {source="MONDO:equivalentTo"}
xref: SCTID:230314007 {source="MONDO:kboom-pr-1.00/0.79/7.75", source="MONDO:equivalentTo"}
xref: UMLS:C0338465 {source="MONDO:equivalentTo", source="NCIT:C113397", source="ORDO:71272/e", source="Orphanet:71272"}
is_a: MONDO:0002254 {source="MONDOLEX:0019104", source="NCIT:C113397"} ! syndromic disease
is_a: MONDO:0015111 {source="Orphanet:71272"} ! gastroesophageal disease
is_a: MONDO:0017657 {source="Orphanet:71272"} ! rare paroxysmal movement disorder
property_value: exactMatch http://identifiers.org/meddra/10066142
property_value: exactMatch http://identifiers.org/mesh/C537234
property_value: exactMatch http://identifiers.org/snomedct/230314007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338465
property_value: exactMatch NCIT:C113397
property_value: exactMatch Orphanet:71272
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome xsd:anyURI {source="GARD:0009684"}

[Term]
id: MONDO:0019105
name: renal nutcracker syndrome
def: "1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria." [Orphanet:71273]
subset: ordo_disease {source="Orphanet:71273"}
synonym: "left renal vein entrapment syndrome" EXACT [Orphanet:71273]
synonym: "nutcracker syndrome" RELATED [GARD:0011971]
synonym: "RNS" EXACT [Orphanet:71273]
xref: EFO:1001838 {source="MONDO:equivalentTo"}
xref: GARD:0011971 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:71273/e"}
xref: Orphanet:71273 {source="MONDO:equivalentTo"}
xref: SCTID:717267005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3178770 {source="Orphanet:71273", source="MONDO:equivalentTo", source="ORDO:71273/e"}
is_a: MONDO:0019721 {source="Orphanet:71273"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/mesh/D059228
property_value: exactMatch http://identifiers.org/snomedct/717267005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3178770
property_value: exactMatch Orphanet:71273

[Term]
id: MONDO:0019106
name: obsolete disseminated peritoneal leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0006183

[Term]
id: MONDO:0019107
name: Rh deficiency syndrome
def: "The Rh deficiency syndrome , also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens . The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes ( mutations ) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus . As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome]
subset: gard_rare {source="GARD:0012916"}
subset: ordo_disease {source="Orphanet:71275"}
synonym: "Rh deficiency syndrome" EXACT [OMIM:268150]
synonym: "Rh-Mod" RELATED [OMIM:268150]
synonym: "Rh-null disease" RELATED [OMIM:268150]
synonym: "Rh-null disease, regulator type" RELATED [OMIM:268150]
synonym: "Rh-null hemolytic Anemia, regulator type" RELATED [OMIM:268150]
synonym: "Rh-null syndrome" EXACT [Orphanet:71275]
synonym: "RH-null, regulator type" RELATED [MONDO:Lexical, OMIM:268150]
synonym: "RH-null, regulator type; RHN" RELATED [OMIM:268150]
synonym: "RH-null, regulator type; RHNR" RELATED [OMIM:268150]
synonym: "RHN" RELATED [MONDO:Lexical, OMIM:268150]
synonym: "RHNR" RELATED [OMIM:268150]
xref: DOID:0050641 {source="MONDO:equivalentTo"}
xref: GARD:0012916 {source="MONDO:equivalentTo"}
xref: ICD10:D58.8 {source="Orphanet:71275", source="ORDO:71275/attributed", source="ORDO:71275/ntbt"}
xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275", source="MONDO:equivalentTo", source="ORDO:71275/ntbt"}
xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"}
xref: SCTID:37272000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272052 {source="Orphanet:71275", source="MONDO:equivalentTo", source="OMIM:268150", source="ORDO:71275/e"}
xref: UMLS:C1849387 {source="Orphanet:71275", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268150", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020102 {source="Orphanet:71275"} ! hereditary stomatocytosis
property_value: exactMatch DOID:0050641
property_value: exactMatch http://identifiers.org/omim/268150
property_value: exactMatch http://identifiers.org/snomedct/37272000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1849387
property_value: exactMatch Orphanet:71275
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome xsd:anyURI {source="GARD:0012916"}

[Term]
id: MONDO:0019108
name: silent sinus syndrome
def: "Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." [Orphanet:71276]
subset: ordo_disease {source="Orphanet:71276"}
synonym: "Imploding antrum syndrome" EXACT [Orphanet:71276]
xref: ICD9:478.19 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:71276 {source="MONDO:equivalentTo"}
xref: SCTID:699802009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3698095 {source="Orphanet:71276", source="MONDO:equivalentTo"}
is_a: MONDO:0024623 {source="Orphanet:71276"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/699802009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3698095
property_value: exactMatch Orphanet:71276

[Term]
id: MONDO:0019109
name: CANOMAD syndrome
def: "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." [Orphanet:71279]
subset: gard_rare {source="GARD:0009778"}
subset: ordo_disease {source="Orphanet:71279"}
synonym: "chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome" RELATED [GARD:0009778]
synonym: "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome" EXACT [Orphanet:71279]
synonym: "chronic sensory ataxic neuropathy with anti-disialosyl antibodies" RELATED [GARD:0009778]
synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [Orphanet:71279]
xref: GARD:0009778 {source="MONDO:equivalentTo"}
xref: ICD10:G61.8 {source="Orphanet:71279", source="ORDO:71279/ntbt"}
xref: MESH:C537980 {source="ORDO:71279/e", source="MONDO:equivalentTo", source="Orphanet:71279", source="MONDO:ontobio"}
xref: Orphanet:71279 {source="MONDO:equivalentTo"}
xref: SCTID:715624006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2931684 {source="ORDO:71279/e", source="MONDO:equivalentTo", source="Orphanet:71279"}
is_a: MONDO:0015916 {source="Orphanet:71279"} ! rare neuroinflammatory or neuroimmunological disease
is_a: MONDO:0016169 {source="Orphanet:71279"} ! chronic acquired demyelinating polyneuropathy
is_a: MONDO:0016178 {source="Orphanet:71279"} ! peripheral neuropathy associated with monoclonal gammopathy
property_value: exactMatch http://identifiers.org/mesh/C537980
property_value: exactMatch http://identifiers.org/snomedct/715624006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931684
property_value: exactMatch Orphanet:71279
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome xsd:anyURI {source="GARD:0009778"}

[Term]
id: MONDO:0019110
name: obsolete rare central nervous system or retinal vascular disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:71281"}
xref: Orphanet:71281 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN205621 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205621
property_value: exactMatch Orphanet:71281
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020676

[Term]
id: MONDO:0019111
name: familial thrombocytosis
def: "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." [https://github.com/monarch-initiative/mondo/issues/230, Orphanet:71493]
subset: ordo_disease {source="Orphanet:71493"}
synonym: "familial thrombocythemia" EXACT [Orphanet:71493]
synonym: "hereditary thrombocythemia" EXACT [Orphanet:71493]
synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary]
synonym: "THCYT" EXACT [MONDO:cjm]
synonym: "thrombocythemia" RELATED [OMIMPS:187950]
xref: ICD10:D75.2 {source="Orphanet:71493", source="ORDO:71493/attributed", source="ORDO:71493/ntbt"}
xref: OMIMPS:187950 {source="MONDO:equivalentTo"}
xref: Orphanet:71493 {source="MONDO:equivalentTo"}
xref: SCTID:720950009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.68/0.77"}
xref: UMLS:CN205627 {source="MONDO:equivalentTo"}
is_a: MONDO:0002249 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! thrombocytosis disease
is_a: MONDO:0016636 {source="Orphanet:71493"} ! thrombotic disorder due to a constitutional platelet anomaly
intersection_of: MONDO:0002249 ! thrombocytosis disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/720950009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205627
property_value: exactMatch Orphanet:71493

[Term]
id: MONDO:0019112
name: cancer-associated retinopathy
def: "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." [Orphanet:71505]
subset: ordo_disease {source="Orphanet:71505"}
synonym: "CAR syndrome" EXACT [Orphanet:71505]
synonym: "paraneoplastic retinopathy" EXACT [Orphanet:71505]
xref: ICD9:362.10 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D059545 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:71505 {source="MONDO:equivalentTo"}
xref: SCTID:404663008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.67/0.40"}
is_a: MONDO:0005283 ! retinal disease
is_a: MONDO:0018215 {source="Orphanet:71505"} ! paraneoplastic neurologic syndrome
intersection_of: MONDO:0005283 ! retinal disease
intersection_of: disease_arises_from_feature MONDO:0004992 ! cancer
relationship: disease_arises_from_feature MONDO:0004992 ! cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1321315
property_value: exactMatch http://identifiers.org/mesh/D059545
property_value: exactMatch http://identifiers.org/snomedct/404663008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730307
property_value: exactMatch Orphanet:71505

[Term]
id: MONDO:0019113
name: benign paroxysmal torticollis of infancy
def: "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." [Orphanet:71518]
subset: ordo_disease {source="Orphanet:71518"}
xref: ICD10:G24.3 {source="ORDO:71518/attributed", source="ORDO:71518/ntbt", source="Orphanet:71518"}
xref: Orphanet:71518 {source="MONDO:equivalentTo"}
xref: SCTID:719521002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN205631 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016058 {source="Orphanet:71518", source="linkedlifedata"} ! paroxysmal dystonia
property_value: exactMatch http://identifiers.org/snomedct/719521002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205631
property_value: exactMatch Orphanet:71518

[Term]
id: MONDO:0019114
name: psychogenic movement disorders
def: "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." [Orphanet:71519]
subset: ordo_clinical_syndrome {source="Orphanet:71519"}
synonym: "psychogenic dystonia" EXACT [Orphanet:71519]
xref: ICD10:F44.4 {source="ORDO:71519/ntbt", source="Orphanet:71519"}
xref: MedDRA:10072376 {source="ORDO:71519/e", source="Orphanet:71519"}
xref: Orphanet:71519 {source="MONDO:equivalentTo"}
xref: UMLS:C3267131 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:71519/e", source="Orphanet:71519"}
is_a: MONDO:0005395 {source="Orphanet:71519"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10072376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267131
property_value: exactMatch Orphanet:71519

[Term]
id: MONDO:0019115
name: obesity due to melanocortin 4 receptor deficiency
def: "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." [Orphanet:71529]
subset: ordo_malformation_syndrome {source="Orphanet:71529"}
synonym: "MC4R deficiency" EXACT [Orphanet:71529]
xref: ICD10:E66.8 {source="ORDO:71529/attributed", source="ORDO:71529/ntbt", source="Orphanet:71529"}
xref: Orphanet:71529 {source="MONDO:equivalentTo"}
xref: SCTID:717269008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4273958 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015825 {source="Orphanet:71529"} ! obesity due to congenital leptin resistance
property_value: exactMatch http://identifiers.org/snomedct/717269008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273958
property_value: exactMatch Orphanet:71529

[Term]
id: MONDO:0019116
name: catecholamine-producing tumor
def: "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." [Orphanet:717]
subset: ordo_group_of_disorders {source="Orphanet:717"}
xref: Orphanet:717 {source="MONDO:equivalentTo"}
xref: UMLS:CN205637 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015077 {source="Orphanet:717"} ! adrenal/paraganglial tumor
is_a: MONDO:0015512 {source="Orphanet:717"} ! genetic hypertension
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0021080 ! blood vessel neoplasm
is_a: MONDO:0021163 ! kidney neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205637
property_value: exactMatch Orphanet:717

[Term]
id: MONDO:0019117
name: genetic nervous system disorder
def: "An instance of nervous system disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:71859"}
synonym: "genetic nervous system disorder" EXACT [MONDO:patterns/genetic]
synonym: "genetic neurological disorder" EXACT [MONDO:cjm]
synonym: "rare genetic neurological disorder" EXACT [Orphanet:71859]
xref: Orphanet:71859 {source="MONDO:equivalentTo"}
xref: UMLS:CN205639 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005071 ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198", source="Orphanet:71859"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205639
property_value: exactMatch Orphanet:71859

[Term]
id: MONDO:0019118
name: inherited retinal dystrophy
def: "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same
subset: ordo_group_of_disorders {source="Orphanet:71862"}
synonym: "familial retinal dystrophy" EXACT []
synonym: "fundus dystrophy" BROAD [MONDO:0004590]
synonym: "genetic retinal dystrophy" EXACT []
synonym: "hereditary retinal degeneration" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary retinal dystrophy" EXACT [MONDO:0004589]
synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625]
xref: COHD:377270 {source="MONDO:equivalentTo"}
xref: COHD:380395 {source="MONDO:equivalentTo"}
xref: DOID:8500 {source="MONDO:equivalentTo"}
xref: DOID:8501 {source="MONDO:equivalentTo"}
xref: HP:0000556 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H35.5 {source="DOID:8500", source="MONDO:equivalentTo"}
xref: ICD10:H35.50 {source="DOID:8500"}
xref: ICD9:362.7 {source="DOID:8500"}
xref: ICD9:362.70 {source="DOID:8500", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:362.72 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10038857 {source="ORDO:71862/e", source="Orphanet:71862"}
xref: MESH:D058499 {source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo", source="Orphanet:71862"}
xref: NCIT:C35194 {source="DOID:8500", source="MONDO:equivalentTo"}
xref: NCIT:C35625 {source="DOID:8501", source="MONDO:equivalentTo"}
xref: Orphanet:71862 {source="MONDO:equivalentTo"}
xref: SCTID:314407005 {source="DOID:8501", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:41799005 {source="DOID:8500", source="MONDO:kboom-pr-1.00/0.91/29.27", source="MONDO:equivalentTo"}
xref: UMLS:C0154860 {source="DOID:8500", source="NCIT:C35194", source="MONDO:equivalentTo"}
xref: UMLS:C0854723 {source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo", source="Orphanet:71862", source="NCIT:C35625"}
is_a: MONDO:0004580 ! retinal degeneration
is_a: MONDO:0020238 {source="Orphanet:71862"} ! inherited vitreous-retinal disease
intersection_of: MONDO:0004580 ! retinal degeneration
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0019118 {source="DOID:8500", source="NCIT:C35194", source="linkedlifedata"} ! inherited retinal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/193399000
property_value: closeMatch http://identifiers.org/snomedct/193417000
property_value: closeMatch http://identifiers.org/snomedct/267615006
property_value: exactMatch DOID:8500
property_value: exactMatch DOID:8501
property_value: exactMatch http://identifiers.org/meddra/10038857
property_value: exactMatch http://identifiers.org/mesh/D058499
property_value: exactMatch http://identifiers.org/snomedct/314407005
property_value: exactMatch http://identifiers.org/snomedct/41799005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854723
property_value: exactMatch NCIT:C35194
property_value: exactMatch NCIT:C35625
property_value: exactMatch Orphanet:71862

[Term]
id: MONDO:0019119
name: muscular channelopathy
def: "A channelopathy that involves the muscle tissue." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:71864"}
synonym: "channelopathy of muscle tissue" EXACT [MONDO:design_pattern]
synonym: "muscle tissue channelopathy" EXACT [MONDO:patterns/location]
xref: EFO:1001899 {source="MONDO:equivalentTo"}
xref: Orphanet:71864 {source="MONDO:equivalentTo"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0019056 {source="Orphanet:71864"} ! neuromuscular disease
is_a: MONDO:0021016 ! channelopathy
property_value: exactMatch Orphanet:71864

[Term]
id: MONDO:0019120
name: pili bifurcati
def: "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." [Orphanet:720]
subset: ordo_disease {source="Orphanet:720"}
xref: ICD10:L67.8 {source="Orphanet:720", source="ORDO:720/attributed", source="ORDO:720/ntbt"}
xref: Orphanet:720 {source="MONDO:equivalentTo"}
xref: SCTID:717360009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
is_a: MONDO:0019281 {source="Orphanet:720"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/snomedct/717360009
property_value: exactMatch Orphanet:720

[Term]
id: MONDO:0019121
name: pneumocystosis
def: "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci . The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." [https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis]
subset: gard_rare {source="GARD:0004386"}
subset: ordo_disease {source="Orphanet:723"}
synonym: "PCP" EXACT [NCIT:C3334]
synonym: "PJP" EXACT [NCIT:C3334]
synonym: "Pneumocystis" EXACT [NCIT:C3334]
synonym: "Pneumocystis carinii pneumonia" EXACT [DOID:11339]
synonym: "Pneumocystis jirovecii pneumonia" EXACT [DOID:11339]
synonym: "Pneumocystis pneumonia" EXACT [CSP2005:2596-6076, DOID:11339]
synonym: "pneumocystosis" EXACT [DOID:11339, ICD9CM_2006:136.3]
synonym: "pneumocystosis pneumonia" EXACT [DOID:11339]
synonym: "pulmonary pneumocystosis" EXACT [DOID:11339]
xref: COHD:438350 {source="MONDO:equivalentTo"}
xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"}
xref: EFO:0007448 {source="MONDO:equivalentTo"}
xref: GARD:0004386 {source="MONDO:equivalentTo"}
xref: ICD10:B59 {source="DOID:11339", source="MONDO:equivalentTo"}
xref: ICD10:B59+ {source="ORDO:723/e", source="Orphanet:723"}
xref: ICD10:J17.3* {source="Orphanet:723", source="ORDO:723/ntbt"}
xref: ICD9:136.3 {source="DOID:11339"}
xref: MESH:D011020 {source="DOID:11339", source="EFO:0007448", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3334 {source="DOID:11339", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/25.28"}
xref: Orphanet:723 {source="MONDO:equivalentTo"}
xref: SCTID:415125002 {source="DOID:11339", source="MONDO:kboom-pr-0.88/0.76/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C1535939 {source="MEDGEN:kboom-pr98-c99", source="DOID:11339", source="Orphanet:723", source="MONDO:equivalentTo", source="NCIT:C3334"}
is_a: MONDO:0002312 {source="DOID:11339"} ! opportunistic mycosis
is_a: MONDO:0005249 {source="MESH:D011020", source="NCIT:C3334", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia
is_a: MONDO:0005766 ! fungal lung infectious disease
is_a: MONDO:0005923 ! Pneumocystis infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/155557008
property_value: closeMatch http://identifiers.org/snomedct/57541005
property_value: closeMatch http://identifiers.org/snomedct/88860002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032305
property_value: exactMatch DOID:11339
property_value: exactMatch http://identifiers.org/mesh/D011020
property_value: exactMatch http://identifiers.org/snomedct/415125002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1535939
property_value: exactMatch NCIT:C3334
property_value: exactMatch Orphanet:723
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis xsd:anyURI {source="GARD:0004386"}

[Term]
id: MONDO:0019122
name: idiopathic acute eosinophilic pneumonia
def: "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." [Orphanet:724]
subset: gard_rare
subset: ordo_disease {source="Orphanet:724"}
synonym: "IAEP" EXACT [Orphanet:724]
synonym: "Loeffler syndrome" EXACT [GARD:0000107, MONDO:0004807, Orphanet:724]
synonym: "Loeffler's pneumonia" EXACT [DOID:9503]
synonym: "Loffler syndrome" EXACT [Orphanet:724]
synonym: "Loffler's syndrome" EXACT [DOID:9503, MTHICD9_2006:518.3]
synonym: "Löffler syndrome" EXACT [NCIT:C35301]
synonym: "pulmonary infiltrates with eosinophilia" RELATED [GARD:0000107]
xref: DOID:9503 {source="MONDO:equivalentTo"}
xref: GARD:0000107 {source="MONDO:equivalentTo"}
xref: GARD:0000519 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:J82 {source="DOID:9503", source="Orphanet:724", source="ORDO:724/ntbt"}
xref: NCIT:C35301 {source="DOID:9503", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.82/0.20"}
xref: Orphanet:724 {source="MONDO:equivalentTo"}
xref: SCTID:64936001 {source="DOID:9503", source="MONDO:kboom-pr-1.00/0.78/7.30", source="MONDO:equivalentTo"}
xref: UMLS:C0242459 {source="DOID:9503", source="MONDO:equivalentTo", source="NCIT:C35301"}
xref: UMLS:C4518469 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN227574 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004802 {source="DOID:9503", source="linkedlifedata"} ! pulmonary eosinophilia
is_a: MONDO:0005749 {source="DOID:9503", source="MONDOLEX:0019122", source="NCIT:C35301"} ! eosinophilic pneumonia
is_a: MONDO:0015927 {source="Orphanet:724"} ! idiopathic eosinophilic pneumonia
property_value: closeMatch http://identifiers.org/snomedct/123261002
property_value: exactMatch DOID:9503
property_value: exactMatch http://identifiers.org/snomedct/64936001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242459
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518469
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227574
property_value: exactMatch NCIT:C35301
property_value: exactMatch Orphanet:724

[Term]
id: MONDO:0019123
name: continuous spikes and waves during sleep
def: "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." [Orphanet:725]
subset: ordo_disease {source="Orphanet:725"}
synonym: "continuous spikes and waves during slow-wave sleep" EXACT [Orphanet:725]
synonym: "CSWS" EXACT [Orphanet:725]
synonym: "CSWSS syndrome" EXACT [Orphanet:725]
synonym: "epileptic encephalopathy with continuous spike-and-wave during slow sleep" EXACT [Orphanet:725]
xref: ICD10:F80.3 {source="Orphanet:725", source="ORDO:725/attributed", source="ORDO:725/ntbt"}
xref: Orphanet:725 {source="MONDO:equivalentTo"}
xref: UMLS:C3806403 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN181337 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN205644 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0009509 ! Landau-Kleffner syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3806403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181337
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205644
property_value: exactMatch Orphanet:725

[Term]
id: MONDO:0019124
name: microscopic polyangiitis
def: "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." [Orphanet:727]
subset: gard_rare {source="GARD:0003652"}
subset: ordo_disease {source="Orphanet:727"}
synonym: "Micropolyangiitis" EXACT [Orphanet:727]
synonym: "microscopic polyarteritis" EXACT [Orphanet:727]
synonym: "MPA" EXACT [Orphanet:727]
xref: EFO:1000784 {source="MONDO:equivalentTo"}
xref: GARD:0003652 {source="MONDO:equivalentTo"}
xref: ICD10:M31.7 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727"}
xref: MedDRA:10063344 {source="ORDO:727/e", source="EFO:1000784", source="Orphanet:727"}
xref: MESH:D055953 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="MONDO:ontobio"}
xref: NCIT:C70549 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:727 {source="EFO:1000784", source="MONDO:equivalentTo"}
xref: SCTID:239928004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.43"}
xref: UMLS:C2347126 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C70549"}
is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! Anti-neutrophil cytoplasmic antibody-associated vasculitis
is_a: MONDO:0016177 {source="Orphanet:727"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
is_a: MONDO:0019724 {source="Orphanet:727"} ! secondary glomerular disease
is_a: MONDO:0043218 ! neurovascular disease
is_a: MONDO:0043494 {source="NCIT:C70549", source="linkedlifedata/inferred"} ! arteritis
property_value: exactMatch http://identifiers.org/meddra/10063344
property_value: exactMatch http://identifiers.org/mesh/D055953
property_value: exactMatch http://identifiers.org/snomedct/239928004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2347126
property_value: exactMatch NCIT:C70549
property_value: exactMatch Orphanet:727
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis xsd:anyURI {source="GARD:0003652"}

[Term]
id: MONDO:0019125
name: relapsing polychondritis
def: "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." [Orphanet:728]
subset: gard_rare {source="GARD:0007417"}
subset: ordo_disease {source="Orphanet:728"}
synonym: "chondromalacia, systemic" EXACT [DOID:2556, MTHICD9_2006:733.92]
synonym: "chronic atrophic polychondritis" RELATED [GARD:0007417]
synonym: "recurrent polychondritis" RELATED [GARD:0007417]
xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"}
xref: EFO:1001148 {source="MONDO:equivalentTo"}
xref: GARD:0007417 {source="MONDO:equivalentTo"}
xref: ICD10:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10038304 {source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148"}
xref: MESH:D011081 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148", source="MONDO:ontobio"}
xref: Orphanet:728 {source="MONDO:equivalentTo"}
xref: SCTID:72275000 {source="DOID:2556", source="MONDO:equivalentTo", source="EFO:1001148", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0032453 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728"}
is_a: MONDO:0000589 ! autoimmune disease of musculoskeletal system
is_a: MONDO:0002342 {source="DOID:2556", source="linkedlifedata"} ! chondromalacia
is_a: MONDO:0015939 {source="Orphanet:728"} ! systemic autoimmune disease
is_a: MONDO:0019724 {source="Orphanet:728"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/111256009
property_value: closeMatch http://identifiers.org/snomedct/85780006
property_value: exactMatch DOID:2556
property_value: exactMatch http://identifiers.org/meddra/10038304
property_value: exactMatch http://identifiers.org/mesh/D011081
property_value: exactMatch http://identifiers.org/snomedct/72275000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032453
property_value: exactMatch Orphanet:728
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis xsd:anyURI {source="GARD:0007417"}

[Term]
id: MONDO:0019126
name: intractable diarrhea of infancy
def: "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." [Orphanet:73014]
subset: ordo_group_of_disorders {source="Orphanet:73014"}
synonym: "IDI" EXACT [Orphanet:73014]
xref: Orphanet:73014 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="Orphanet:73014"} ! intestinal disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch Orphanet:73014

[Term]
id: MONDO:0019127
name: polymyositis
def: "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." [Orphanet:732]
subset: ordo_disease {source="Orphanet:732"}
synonym: "PM" EXACT [Orphanet:732]
synonym: "polymyositis" EXACT [MONDO:0005234]
xref: COHD:80800 {source="MONDO:equivalentTo"}
xref: EFO:0003063 {source="MONDO:equivalentTo"}
xref: GARD:0007425 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="ORDO:732/e"}
xref: ICD9:710.4 {source="MONDO:equivalentTo", source="i2s", source="EFO:0003063"}
xref: MedDRA:10036102 {source="Orphanet:732", source="ORDO:732/e"}
xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="EFO:0003063", source="ORDO:732/e"}
xref: NCIT:C26925 {source="MONDO:equivalentTo", source="EFO:0003063"}
xref: Orphanet:732 {source="MONDO:equivalentTo"}
xref: SCTID:31384009 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo", source="EFO:0003063"}
xref: UMLS:C0085655 {source="Orphanet:732", source="MONDO:equivalentTo", source="ORDO:732/e", source="NCIT:C26925"}
xref: Wikipedia:Polymyositis {source="EFO:0003063"}
is_a: MONDO:0019724 {source="Orphanet:732"} ! secondary glomerular disease
is_a: MONDO:0020122 {source="Orphanet:732"} ! idiopathic inflammatory myopathy
is_a: MONDO:0021167 {source="EFO:0003063", source="MESH:D017285", source="MONDOLEX:0019127", source="NCIT:C26925", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis
property_value: exactMatch http://identifiers.org/meddra/10036102
property_value: exactMatch http://identifiers.org/mesh/D017285
property_value: exactMatch http://identifiers.org/snomedct/31384009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085655
property_value: exactMatch NCIT:C26925
property_value: exactMatch Orphanet:732

[Term]
id: MONDO:0019128
name: mullerian aplasia
subset: ordo_group_of_disorders {source="Orphanet:73217"}
synonym: "aplasia of the Mullerian ducts" EXACT [Orphanet:73217]
synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217]
synonym: "Mullerian duct failure" EXACT [Orphanet:73217]
synonym: "Müllerian aplasia" RELATED [Orphanet:73217]
synonym: "Müllerian duct failure" EXACT [Orphanet:73217]
xref: MESH:C537371 {source="ORDO:73217/e", source="MONDO:equivalentTo", source="Orphanet:73217"}
xref: Orphanet:73217 {source="MONDO:equivalentTo"}
xref: SCTID:253828000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015828 {source="Orphanet:73217/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! uterovaginal malformation
relationship: excluded_subClassOf MONDO:0015829 {source="Orphanet:73217"} ! non-syndromic uterovaginal malformation
property_value: exactMatch http://identifiers.org/mesh/C537371
property_value: exactMatch http://identifiers.org/snomedct/253828000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431637
property_value: exactMatch Orphanet:73217

[Term]
id: MONDO:0019129
name: global developmental delay-osteopenia-ectodermal defect syndrome
def: "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." [Orphanet:73223]
subset: ordo_malformation_syndrome {source="Orphanet:73223"}
xref: ICD10:Q87.8 {source="Orphanet:73223", source="ORDO:73223/attributed", source="ORDO:73223/ntbt"}
xref: Orphanet:73223 {source="MONDO:equivalentTo"}
xref: SCTID:717813005 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:CN227576 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:73223"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/717813005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227576
property_value: exactMatch Orphanet:73223

[Term]
id: MONDO:0019130
name: tubular renal disease-cardiomyopathy syndrome
def: "Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." [Orphanet:73224]
subset: ordo_disease {source="Orphanet:73224"}
xref: ICD10:N25.8 {source="Orphanet:73224", source="ORDO:73224/attributed", source="ORDO:73224/ntbt"}
xref: Orphanet:73224 {source="MONDO:equivalentTo"}
xref: UMLS:CN205654 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016337 {source="Orphanet:73224"} ! syndrome associated with dilated cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205654
property_value: exactMatch Orphanet:73224

[Term]
id: MONDO:0019131
name: ossification anomalies-psychomotor developmental delay syndrome
def: "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." [Orphanet:73230]
subset: ordo_disease {source="Orphanet:73230"}
xref: ICD10:Q79.8 {source="ORDO:73230/attributed", source="ORDO:73230/ntbt", source="Orphanet:73230"}
xref: Orphanet:73230 {source="MONDO:equivalentTo"}
xref: UMLS:CN227577 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="Orphanet:73230"} ! syndromic intellectual disability
is_a: MONDO:0015929 {source="Orphanet:73230"} ! thoracic malformation
is_a: MONDO:0019705 {source="Orphanet:73230"} ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227577
property_value: exactMatch Orphanet:73230

[Term]
id: MONDO:0019132
name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
subset: ordo_malformation_syndrome {source="Orphanet:73245"}
xref: ICD10:G12.8 {source="Orphanet:73245", source="ORDO:73245/attributed", source="ORDO:73245/ntbt"}
xref: Orphanet:73245 {source="MONDO:equivalentTo"}
xref: UMLS:CN205656 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016131 {source="Orphanet:73245"} ! spinal muscular atrophy associated with central nervous system anomaly
is_a: MONDO:0017121 {source="Orphanet:73245"} ! syndrome with a Dandy-Walker malformation as major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205656
property_value: exactMatch Orphanet:73245

[Term]
id: MONDO:0019133
name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
def: "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." [Orphanet:73246]
subset: ordo_malformation_syndrome {source="Orphanet:73246"}
xref: ICD10:Q87.8 {source="Orphanet:73246", source="ORDO:73246/attributed", source="ORDO:73246/ntbt"}
xref: Orphanet:73246 {source="MONDO:equivalentTo"}
xref: UMLS:CN205657 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:73246", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:73246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205657
property_value: exactMatch Orphanet:73246

[Term]
id: MONDO:0019134
name: central neurocytoma
def: "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." [Orphanet:73256]
subset: gard_rare {source="GARD:0010641"}
subset: ordo_disease {source="Orphanet:73256"}
synonym: "central neurocytoma (WHO grade II)" EXACT [NCIT:C3791]
synonym: "CNC" RELATED [ONCOTREE:CNC]
synonym: "Neurolipocytoma" EXACT [DOID:14174]
xref: DOID:14174 {source="MONDO:equivalentTo"}
xref: EFO:1000856 {source="MONDO:equivalentTo"}
xref: GARD:0010641 {source="MONDO:equivalentTo"}
xref: ICDO:9506/1 {source="NCIT:C3791"}
xref: MESH:D018306 {source="MONDO:equivalentTo", source="DOID:14174", source="MONDO:ontobio"}
xref: NCIT:C3791 {source="MONDO:equivalentTo", source="DOID:14174", source="exact-label-match"}
xref: ONCOTREE:CNC {source="MONDO:equivalentTo"}
xref: Orphanet:73256 {source="MONDO:equivalentTo"}
xref: UMLS:C0206719 {source="ORDO:73256/e", source="Orphanet:73256", source="NCIT:C3791", source="MONDO:equivalentTo", source="DOID:14174"}
is_a: MONDO:0002682 {source="DOID:14174", source="EFO:1000856", source="NCIT:C3791"} ! cerebral ventricle cancer
is_a: MONDO:0016726 {source="Orphanet:73256"} ! neuronal tumor
is_a: MONDO:0016729 {source="NCIT:C3791"} ! mixed neuronal-glial tumor
relationship: excluded_subClassOf MONDO:0002682 {source="DOID:14174"} ! cerebral ventricle cancer
relationship: has_modifier MONDO:0024492 {source="NCIT:C3791"} ! tumor grade 2, general grading system
property_value: closeMatch http://identifiers.org/snomedct/128858006
property_value: closeMatch http://identifiers.org/snomedct/302832007
property_value: exactMatch DOID:14174
property_value: exactMatch http://identifiers.org/mesh/D018306
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206719
property_value: exactMatch NCIT:C3791
property_value: exactMatch Orphanet:73256
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma xsd:anyURI {source="GARD:0010641"}

[Term]
id: MONDO:0019135
name: obsolete paracoccidioidomycosis
is_obsolete: true
replaced_by: MONDO:0005894

[Term]
id: MONDO:0019136
name: Zygomycosis
alt_id: MONDO:0005860
def: "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." [NCIT:C77212]
subset: gard_rare {source="GARD:0010224"}
subset: ordo_disease {source="Orphanet:73263"}
synonym: "mucormycosis" EXACT [Orphanet:73263]
synonym: "Zygomycota infectious disease" EXACT []
xref: COHD:432830 {source="MONDO:equivalentTo"}
xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: EFO:0007380 {source="MONDO:equivalentTo"}
xref: GARD:0010224 {source="MONDO:equivalentTo"}
xref: ICD10:B46 {source="MONDO:equivalentTo"}
xref: ICD10:B46.0 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.1 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.2 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.3 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.4 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.5 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.8 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD10:B46.9 {source="ORDO:73263/btnt", source="Orphanet:73263"}
xref: ICD9:117.7 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028098 {source="ORDO:73263/e", source="Orphanet:73263"}
xref: MedDRA:10061418 {source="ORDO:73263/e", source="Orphanet:73263"}
xref: MESH:D009091 {source="MONDO:relatedTo", source="EFO:0007380", source="MONDO:equivalentTo", source="ORDO:73263/e", source="Orphanet:73263"}
xref: MESH:D020096 {source="MONDO:equivalentTo", source="ORDO:73263/e", source="Orphanet:73263"}
xref: NCIT:C77212 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:73263 {source="MONDO:equivalentTo"}
xref: SCTID:59277005 {source="MONDO:kboom-pr-0.92/0.68/1.63", source="MONDO:equivalentTo"}
xref: SCTID:76627001 {source="MONDO:kboom-pr-0.94/0.77/1.63", source="MONDO:equivalentTo"}
xref: UMLS:C0043541 {source="MONDO:equivalentTo", source="NCIT:C77212", source="ORDO:73263/e", source="Orphanet:73263"}
is_a: MONDO:0002312 ! opportunistic mycosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: exactMatch DOID:8485
property_value: exactMatch http://identifiers.org/meddra/10028098
property_value: exactMatch http://identifiers.org/meddra/10061418
property_value: exactMatch http://identifiers.org/mesh/D009091
property_value: exactMatch http://identifiers.org/mesh/D020096
property_value: exactMatch http://identifiers.org/snomedct/59277005
property_value: exactMatch http://identifiers.org/snomedct/76627001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043541
property_value: exactMatch NCIT:C77212
property_value: exactMatch Orphanet:73263
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10224/zygomycosis xsd:anyURI {source="GARD:0010224"}

[Term]
id: MONDO:0019137
name: non-24-hour sleep-wake syndrome
def: "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." [Orphanet:73267]
subset: ordo_disease {source="Orphanet:73267"}
synonym: "circadian rhythm sleep disorder, free running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
synonym: "circadian rhythm sleep disorder, free-running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
synonym: "hypernychthemeral syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24, Orphanet:73267]
synonym: "non 24 hour sleep wake disorder" RELATED [GARD:0010949]
synonym: "non-24" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
xref: GARD:0010949 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G47.2 {source="MONDO:subClassOf", source="Orphanet:73267", source="ORDO:73267/ntbt"}
xref: ICD10:G47.24 {source="MONDO:equivalentTo"}
xref: Orphanet:73267 {source="MONDO:equivalentTo"}
xref: SCTID:230496009 {source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.24", source="MONDO:Redundant", source="MONDOLEX:0019137"} ! circadian rhythm sleep disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751759
property_value: exactMatch http://identifiers.org/snomedct/230496009
property_value: exactMatch Orphanet:73267

[Term]
id: MONDO:0019138
name: bleeding diathesis due to a collagen receptor defect
subset: ordo_disease {source="Orphanet:73271"}
xref: ICD10:D69.8 {source="ORDO:73271/attributed", source="ORDO:73271/ntbt", source="Orphanet:73271"}
xref: Orphanet:73271 {source="MONDO:equivalentTo"}
is_a: MONDO:0017142 {source="MONDO:Redundant", source="Orphanet:73271"} ! hemorrhagic disorder due to a qualitative platelet defect
is_a: MONDO:0044977 ! disease of receptor activity
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch Orphanet:73271

[Term]
id: MONDO:0019139
name: acquired hemophilia
def: "Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes." [Orphanet:73274]
subset: ordo_disease {source="Orphanet:73274"}
synonym: "acquired haemophilia" RELATED [GARD:0010350]
synonym: "acquired hemophilia" EXACT [MONDO:patterns/acquired]
synonym: "hemophilia, acquired" RELATED [GARD:0010350]
xref: GARD:0010350 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D68.311 {source="MONDO:equivalentTo"}
xref: ICD10:D68.4 {source="ORDO:73274/e", source="Orphanet:73274"}
xref: MedDRA:10053745 {source="ORDO:73274/e", source="Orphanet:73274"}
xref: MESH:C536392 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:73274 {source="MONDO:equivalentTo"}
xref: UMLS:C1096116 {source="MONDO:equivalentTo", source="ORDO:73274/e", source="Orphanet:73274"}
is_a: MONDO:0015662 {source="Orphanet:73274"} ! hemorrhagic disorder due to an acquired coagulation factor defect
is_a: MONDO:0018660 ! hemophilia
is_a: MONDO:0020599 ! acquired coagulation factor deficiency
intersection_of: MONDO:0018660 ! hemophilia
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/meddra/10053745
property_value: exactMatch http://identifiers.org/mesh/C536392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096116
property_value: exactMatch Orphanet:73274

[Term]
id: MONDO:0019140
name: acute ackee fruit intoxication
def: "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." [Orphanet:73423]
subset: ordo_disease {source="Orphanet:73423"}
synonym: "ackee poisoning" RELATED [GARD:0009299]
synonym: "acute intoxication by Blighia sapida" EXACT [Orphanet:73423]
synonym: "Jamaican vomiting sickness" EXACT [Orphanet:73423]
synonym: "Jamaican vomiting syndrome" EXACT [Orphanet:73423]
xref: GARD:0009299 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:T62.2 {source="Orphanet:73423", source="ORDO:73423/ntbt"}
xref: ICD9:988.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537562 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:73423 {source="MONDO:equivalentTo"}
xref: SCTID:49434001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0029000 {source="Orphanet:73423"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0274888
property_value: exactMatch http://identifiers.org/mesh/C537562
property_value: exactMatch http://identifiers.org/snomedct/49434001
property_value: exactMatch Orphanet:73423

[Term]
id: MONDO:0019141
name: porokeratosis of Mibelli
def: "Porokeratosis of Mibelli (PM) is a form of porokeratosis (see this term) that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." [Orphanet:735]
subset: ordo_disease {source="Orphanet:735"}
xref: GARD:0004438 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.8 {source="Orphanet:735", source="ORDO:735/attributed", source="ORDO:735/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:735 {source="MONDO:equivalentTo"}
xref: SCTID:80432009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.75"}
xref: UMLS:C0949506 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:735", source="MONDO:equivalentTo"}
is_a: MONDO:0006602 {source="MONDOLEX:0019141", source="Orphanet:735", source="linkedlifedata"} ! porokeratosis (disease)
property_value: exactMatch http://identifiers.org/snomedct/80432009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949506
property_value: exactMatch Orphanet:735

[Term]
id: MONDO:0019142
name: inherited porphyria
def: "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." [Orphanet:738]
comment: Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
subset: gard_rare {source="GARD:0010353"}
subset: ordo_group_of_disorders {source="Orphanet:738"}
synonym: "disorder of porphyrin and hem metabolism" EXACT [DOID:13268]
synonym: "disorder of porphyrin and heme metabolism" BROAD [DOID:13268]
synonym: "disorder of porphyrin metabolism" BROAD [DOID:13268, ICD9CM_2006:277.1]
synonym: "Hematoporphyria" RELATED [DOID:13268, MTHICD9_2006:277.1]
synonym: "hereditary porphyria" EXACT [MONDO:patterns/hereditary]
synonym: "porphyria" BROAD [DOID:13268]
synonym: "Porphyrinopathy" RELATED [DOID:13268]
xref: COHD:434908 {source="MONDO:equivalentTo"}
xref: DOID:13268 {source="MONDO:equivalentTo"}
xref: GARD:0010353 {source="MONDO:equivalentTo"}
xref: ICD10:E80.0 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"}
xref: ICD10:E80.1 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"}
xref: ICD10:E80.2 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"}
xref: ICD10:E80.20 {source="MONDO:ICD_NOS", source="DOID:13268"}
xref: ICD9:277.1 {source="DOID:13268"}
xref: MedDRA:10036181 {source="ORDO:738/e", source="Orphanet:738"}
xref: MedDRA:10061356 {source="ORDO:738/e", source="Orphanet:738"}
xref: MESH:D011164 {source="ORDO:738/e", source="MONDO:equivalentTo", source="Orphanet:738", source="MONDO:ontobio", source="DOID:13268"}
xref: NCIT:C97096 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:13268"}
xref: Orphanet:738 {source="MONDO:equivalentTo"}
xref: SCTID:371628009 {source="MONDO:equivalentTo", source="DOID:13268", source="MONDO:kboom-pr-0.84/0.68/0.05"}
xref: UMLS:C0032708 {source="NCIT:C97096", source="ORDO:738/e", source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268"}
is_a: MONDO:0015951 {source="Orphanet:738"} ! hereditary photodermatosis
is_a: MONDO:0017754 {source="MONDO:Redundant", source="Orphanet:738"} ! inborn disorder of porphyrin metabolism
is_a: MONDO:0019301 {source="Orphanet:738"} ! metabolic disease with skin involvement
is_a: MONDO:0019304 {source="Orphanet:738"} ! rare photodermatosis
is_a: MONDO:0037939 ! porphyria
intersection_of: MONDO:0037939 ! porphyria
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:738"} ! nephropathy secondary to a storage or other metabolic disease
property_value: closeMatch http://identifiers.org/snomedct/154768004
property_value: closeMatch http://identifiers.org/snomedct/190912004
property_value: closeMatch http://identifiers.org/snomedct/190916001
property_value: closeMatch http://identifiers.org/snomedct/238052001
property_value: closeMatch http://identifiers.org/snomedct/274090006
property_value: closeMatch http://identifiers.org/snomedct/86292002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0235387
property_value: exactMatch DOID:13268
property_value: exactMatch http://identifiers.org/meddra/10036181
property_value: exactMatch http://identifiers.org/meddra/10061356
property_value: exactMatch http://identifiers.org/mesh/D011164
property_value: exactMatch http://identifiers.org/snomedct/371628009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032708
property_value: exactMatch NCIT:C97096
property_value: exactMatch Orphanet:738
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10353/porphyria xsd:anyURI {source="GARD:0010353"}

[Term]
id: MONDO:0019143
name: angiostrongyliasis
def: "and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." [Orphanet:74]
subset: gard_rare {source="GARD:0000683"}
subset: ordo_disease {source="Orphanet:74"}
xref: DOID:0050256 {source="MONDO:equivalentTo"}
xref: GARD:0000683 {source="MONDO:equivalentTo"}
xref: ICD10:B81.3 {source="ORDO:74/btnt", source="Orphanet:74"}
xref: ICD10:B83.2 {source="ORDO:74/btnt", source="Orphanet:74"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10069517 {source="Orphanet:74", source="ORDO:74/e"}
xref: MESH:C536369 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="Orphanet:74", source="ORDO:74/e"}
xref: NCIT:C128394 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:74 {source="MONDO:equivalentTo"}
xref: SCTID:61750000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"}
xref: UMLS:C0392662 {source="MONDO:equivalentTo", source="NCIT:C128394", source="Orphanet:74", source="ORDO:74/e"}
is_a: MONDO:0004664 {source="DOID:0050256", source="MESH:C536369/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: exactMatch DOID:0050256
property_value: exactMatch http://identifiers.org/meddra/10069517
property_value: exactMatch http://identifiers.org/mesh/C536369
property_value: exactMatch http://identifiers.org/snomedct/61750000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392662
property_value: exactMatch NCIT:C128394
property_value: exactMatch Orphanet:74
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis xsd:anyURI {source="GARD:0000683"}

[Term]
id: MONDO:0019144
name: hereditary thrombophilia due to congenital protein S deficiency
def: "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." [Orphanet:743]
subset: ordo_disease {source="Orphanet:743"}
synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743]
synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743]
xref: ICD10:D68.5 {source="Orphanet:743", source="ORDO:743/attributed", source="ORDO:743/ntbt"}
xref: Orphanet:743 {source="MONDO:equivalentTo"}
is_a: MONDO:0002304 {source="MONDO:cjm"} ! protein S deficiency
is_a: MONDO:0016320 {source="Orphanet:743"} ! rare hereditary thrombophilia
property_value: exactMatch Orphanet:743

[Term]
id: MONDO:0019145
name: hereditary thrombophilia due to congenital protein C deficiency
def: "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." [Orphanet:745]
subset: ordo_disease {source="Orphanet:745"}
synonym: "autosomal recessive thrombophilia due to congenital protein C deficiency" EXACT [Orphanet:745]
synonym: "autosomal recessive thrombophilia due to PC deficiency" EXACT [Orphanet:745]
synonym: "hereditary thrombophilia due to PC deficiency" EXACT [Orphanet:745]
synonym: "Protein C deficiency" EXACT [NCIT:C99025]
synonym: "protein C deficiency" EXACT [MONDO:0002767]
synonym: "Protein C deficiency disease" EXACT [NCIT:C99025]
synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745]
xref: DOID:3756 {source="MONDO:equivalentTo"}
xref: ICD10:D68.2 {source="Orphanet:745", source="ORDO:745/attributed", source="ORDO:745/ntbt"}
xref: ICD10:D68.59 {source="DOID:3756"}
xref: MESH:C535424 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: MESH:D020151 {source="MONDO:equivalentTo", source="DOID:3756", source="MONDO:ontobio"}
xref: NCIT:C99025 {source="MONDO:equivalentTo", source="DOID:3756", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:745 {source="MONDO:equivalentTo"}
xref: SCTID:76407009 {source="MONDO:equivalentTo", source="DOID:3756", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0002305 {source="MESH:C535424/inferred", source="MESH:D020151", source="NCIT:C99025", source="linkedlifedata"} ! thrombophilia
is_a: MONDO:0016320 {source="Orphanet:745"} ! rare hereditary thrombophilia
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0398625
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930896
property_value: exactMatch DOID:3756
property_value: exactMatch http://identifiers.org/mesh/C535424
property_value: exactMatch http://identifiers.org/mesh/D020151
property_value: exactMatch http://identifiers.org/snomedct/76407009
property_value: exactMatch NCIT:C99025
property_value: exactMatch Orphanet:745

[Term]
id: MONDO:0019146
name: inherited susceptibility to mycobacterial diseases
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." [Orphanet:748]
subset: ordo_group_of_disorders {source="Orphanet:748"}
subset: predisposition
synonym: "idiopathic infection caused by BCG or atypical mycobacteria" EXACT [Orphanet:748]
synonym: "Mendelian susceptibility to atypical mycobacteria" EXACT [Orphanet:748]
synonym: "Mendelian susceptibility to mycobacterial infections" EXACT [Orphanet:748]
synonym: "MSMD" EXACT [Orphanet:748]
synonym: "Mycobacterium caused genetic susceptibility to infections due to particular pathogens" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium genetic susceptibility to infections due to particular pathogens" EXACT []
xref: GARD:0012977 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D84.8 {source="ORDO:748/attributed", source="ORDO:748/ntbt", source="Orphanet:748"}
xref: Orphanet:748 {source="MONDO:equivalentTo"}
xref: UMLS:C3266863 {source="MONDO:equivalentTo", source="Orphanet:748", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN181681 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0015979 {source="Orphanet:748"} ! hereditary predisposition to infections
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3266863
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN181681
property_value: exactMatch Orphanet:748

[Term]
id: MONDO:0019147
name: myiasis
def: "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." [NCIT:C128400]
subset: ordo_group_of_disorders {source="Orphanet:75110"}
synonym: "infestation by fly larvae" EXACT [DOID:11080]
synonym: "infestation by maggots" EXACT [DOID:11080, MTHICD9_2006:134.0]
synonym: "maggot infestation" EXACT [DOID:11080]
synonym: "myiasis, unspecified" EXACT [DOID:11080]
xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"}
xref: EFO:0007389 {source="MONDO:equivalentTo"}
xref: ICD10:B87 {source="DOID:11080"}
xref: ICD10:B87.0 {source="ORDO:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"}
xref: ICD10:B87.1 {source="ORDO:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"}
xref: ICD10:B87.2 {source="ORDO:75110/btnt", source="Orphanet:75110"}
xref: ICD10:B87.3 {source="ORDO:75110/btnt", source="Orphanet:75110"}
xref: ICD10:B87.4 {source="ORDO:75110/btnt", source="Orphanet:75110"}
xref: ICD10:B87.8 {source="ORDO:75110/btnt", source="Orphanet:75110"}
xref: ICD10:B87.9 {source="ORDO:75110/btnt", source="DOID:11080", source="Orphanet:75110"}
xref: ICD9:134.0 {source="DOID:11080", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028586 {source="ORDO:75110/e", source="Orphanet:75110"}
xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="MONDO:equivalentTo", source="ORDO:75110/e", source="MONDO:ontobio", source="Orphanet:75110"}
xref: NCIT:C128400 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:75110 {source="MONDO:equivalentTo"}
xref: SCTID:60412004 {source="DOID:11080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.79"}
xref: UMLS:C0027030 {source="DOID:11080", source="NCIT:C128400", source="MONDO:equivalentTo", source="ORDO:75110/e", source="Orphanet:75110"}
is_a: MONDO:0002875 {source="DOID:11080", source="MESH:D009198"} ! parasitic ectoparasitic infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154423006
property_value: closeMatch http://identifiers.org/snomedct/187224004
property_value: closeMatch http://identifiers.org/snomedct/187547004
property_value: closeMatch http://identifiers.org/snomedct/266225001
property_value: exactMatch DOID:11080
property_value: exactMatch http://identifiers.org/meddra/10028586
property_value: exactMatch http://identifiers.org/mesh/D009198
property_value: exactMatch http://identifiers.org/snomedct/60412004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027030
property_value: exactMatch NCIT:C128400
property_value: exactMatch Orphanet:75110

[Term]
id: MONDO:0019148
name: Wolman disease
def: "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." [Orphanet:75233]
subset: ordo_clinical_subtype {source="Orphanet:75233"}
synonym: "acid esterase deficiency" EXACT [DOID:14497]
synonym: "acid lipase deficiency" EXACT [DOID:14497]
synonym: "deficiency of cholesterol esterase and triacylglycerol lipase" RELATED []
synonym: "familial visceral xanthomatosis" RELATED []
synonym: "familial xanthomatosis" RELATED [GARD:0007899]
synonym: "liposomal acid lipase deficiency, Wolman type" RELATED [GARD:0007899]
synonym: "lysosomal acid lipase deficiency" EXACT [NCIT:C61271]
synonym: "primary familial xanthomatosis" RELATED []
synonym: "primary familial xanthomatosis with adrenal calcification" RELATED []
synonym: "Wolman disease" EXACT []
synonym: "Wolman xanthomatosis" EXACT [CSP2005:1849-5821, DOID:14497]
synonym: "Wolman's disease" EXACT [DOID:14497]
synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497, MTHICD9_2006:272.7]
synonym: "xanthomatosis, familial" EXACT [DOID:14497]
xref: DOID:14497 {source="MONDO:equivalentTo"}
xref: GARD:0007899 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.5 {source="Orphanet:75233", source="ORDO:75233/inclusion", source="DOID:14497", source="ORDO:75233/ntbt"}
xref: MedDRA:10053687 {source="Orphanet:75233", source="ORDO:75233/e"}
xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="DOID:14497", source="ORDO:75233/e"}
xref: NCIT:C61271 {source="MONDO:equivalentTo", source="DOID:14497", source="MONDO:kboom-pr-0.91/0.80/0.32"}
xref: Orphanet:75233 {source="MONDO:equivalentTo"}
xref: SCTID:238074007 {source="MONDO:possiblyEquivalent", source="DOID:14497"}
xref: SCTID:82500001 {source="MONDO:equivalentTo", source="DOID:14497"}
xref: UMLS:C0043208 {source="Orphanet:75233", source="MONDO:equivalentTo", source="NCIT:C61271", source="DOID:14497", source="ORDO:75233/e"}
xref: UMLS:CN438428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010204 {source="DOID:14497", source="Orphanet:75233", source="linkedlifedata"} ! lysosomal acid lipase deficiency
property_value: closeMatch http://identifiers.org/snomedct/190795007
property_value: closeMatch http://identifiers.org/snomedct/190797004
property_value: closeMatch http://identifiers.org/snomedct/238074007
property_value: closeMatch http://identifiers.org/snomedct/37896002
property_value: exactMatch DOID:14497
property_value: exactMatch http://identifiers.org/meddra/10053687
property_value: exactMatch http://identifiers.org/mesh/D015223
property_value: exactMatch http://identifiers.org/snomedct/82500001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043208
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN438428
property_value: exactMatch NCIT:C61271
property_value: exactMatch Orphanet:75233

[Term]
id: MONDO:0019149
name: cholesteryl ester storage disease
def: "Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption." [Orphanet:75234]
subset: ordo_clinical_subtype {source="Orphanet:75234"}
synonym: "CESD" RELATED [GARD:0012099]
synonym: "cholesterol ester storage disease" EXACT [MONDO:0001981, Orphanet:75234]
xref: DOID:14502 {source="MONDO:equivalentTo"}
xref: GARD:0012099 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E75.5 {source="Orphanet:75234", source="ORDO:75234/attributed", source="ORDO:75234/ntbt"}
xref: Orphanet:75234 {source="MONDO:equivalentTo"}
xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0008384 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:75234", source="MONDO:equivalentTo", source="DOID:14502"}
is_a: MONDO:0010204 {source="DOID:14502", source="Orphanet:75234", source="linkedlifedata"} ! lysosomal acid lipase deficiency
property_value: closeMatch http://identifiers.org/mesh/D015217
property_value: exactMatch DOID:14502
property_value: exactMatch http://identifiers.org/snomedct/57218003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008384
property_value: exactMatch Orphanet:75234

[Term]
id: MONDO:0019150
name: familial isolated restrictive cardiomyopathy
def: "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy]
subset: ordo_disease {source="Orphanet:75249"}
synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249]
xref: ICD10:I42.5 {source="ORDO:75249/specific", source="ORDO:75249/e", source="Orphanet:75249"}
xref: Orphanet:75249 {source="MONDO:equivalentTo"}
xref: UMLS:CN205687 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016340 {source="Orphanet:75249"} ! familial restrictive cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205687
property_value: exactMatch Orphanet:75249

[Term]
id: MONDO:0019151
name: oligocone trichromacy
def: "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision." [Orphanet:75378]
subset: ordo_disease {source="Orphanet:75378"}
synonym: "Oligocone syndrome" EXACT [Orphanet:75378]
xref: Orphanet:75378 {source="MONDO:equivalentTo"}
xref: SCTID:722066001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C4302876 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205696 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019118 {source="Orphanet:75378", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/snomedct/722066001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205696
property_value: exactMatch Orphanet:75378

[Term]
id: MONDO:0019152
name: Oguchi disease
def: "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." [Orphanet:75382]
subset: gard_rare {source="GARD:0010118"}
subset: ordo_malformation_syndrome {source="Orphanet:75382"}
synonym: "congenital stationary night blindness, Oguchi type" EXACT [Orphanet:75382]
synonym: "Oguchi syndrome" EXACT [Orphanet:75382]
synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118]
xref: GARD:0010118 {source="MONDO:equivalentTo"}
xref: ICD10:H53.6 {source="MONDO:subClassOf", source="ORDO:75382/ntbt", source="ORDO:75382/index", source="Orphanet:75382"}
xref: MESH:C537743 {source="MONDO:equivalentTo", source="ORDO:75382/e", source="Orphanet:75382"}
xref: Orphanet:75382 {source="MONDO:equivalentTo"}
is_a: MONDO:0016293 ! congenital stationary night blindness
property_value: exactMatch http://identifiers.org/mesh/C537743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1306122
property_value: exactMatch Orphanet:75382
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease xsd:anyURI {source="GARD:0010118"}

[Term]
id: MONDO:0019153
name: brain malformation-congenital heart disease-postaxial polydactyly syndrome
def: "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." [Orphanet:75389]
subset: ordo_malformation_syndrome {source="Orphanet:75389"}
synonym: "Goossens-Devriendt syndrome" EXACT [Orphanet:75389]
xref: ICD10:Q87.8 {source="Orphanet:75389", source="ORDO:75389/attributed", source="ORDO:75389/ntbt"}
xref: Orphanet:75389 {source="MONDO:equivalentTo"}
xref: SCTID:717943008 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: UMLS:C4303545 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:75389", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:75389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015506 {source="Orphanet:75389"} ! rare syndrome with cardiac malformations
property_value: exactMatch http://identifiers.org/snomedct/717943008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303545
property_value: exactMatch Orphanet:75389

[Term]
id: MONDO:0019154
name: androgen insensitivity syndrome
def: "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms)." [Orphanet:754]
subset: gard_rare {source="GARD:0005803"}
subset: ordo_group_of_disorders {source="Orphanet:754"}
synonym: "AIS" BROAD [MONDO:Lexical, OMIM:300068, Orphanet:754]
synonym: "androgen insensitivity syndrome" EXACT [MONDO:Lexical, OMIM:300068]
synonym: "androgen insensitivity syndrome; AIS" RELATED [OMIM:300068]
synonym: "androgen receptor deficiency" RELATED [OMIM:300068]
synonym: "androgen resistance syndrome" EXACT [Orphanet:754]
synonym: "androgen-insensitivity syndrome" EXACT [DOID:4674]
synonym: "AR deficiency" RELATED [OMIM:300068]
synonym: "DHTR deficiency" RELATED [OMIM:300068]
synonym: "dihydrotestosterone receptor deficiency" RELATED [OMIM:300068]
synonym: "Feminisation - testicular" RELATED [DOID:4674]
synonym: "Goldberg - Maxwell syndrome" EXACT [DOID:4674]
synonym: "Goldberg-Maxwell syndrome" EXACT [DOID:4674, Orphanet:754]
synonym: "Morris syndrome" EXACT [Orphanet:754]
synonym: "testicular feminization" EXACT [CSP2005:2586-8897, DOID:4674]
synonym: "testicular feminization syndrome" EXACT [DOID:4674, MTH:NOCODE, NCIT:C27226, OMIM:300068, Orphanet:754]
synonym: "testicular feminization syndrome (formerly)" RELATED [GARD:0005803]
xref: COHD:440359 {source="MONDO:equivalentTo"}
xref: DOID:4674 {source="MONDO:equivalentTo"}
xref: GARD:0005803 {source="MONDO:equivalentTo"}
xref: ICD10:E34.5 {source="DOID:4674", source="Orphanet:754", source="Orphanet:99429", source="ORDO:754/specific", source="ORDO:754/e"}
xref: ICD10:E34.50 {source="DOID:4674"}
xref: ICD10:E34.51 {source="DOID:4674", source="MONDO:superClassOf"}
xref: ICD9:259.5 {source="DOID:4674"}
xref: ICD9:259.51 {source="DOID:4674", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056292 {source="Orphanet:754", source="ORDO:754/e"}
xref: MESH:D013734 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="ORDO:754/e"}
xref: NCIT:C27226 {source="DOID:4674", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: OMIM:300068 {source="MONDO:equivalentTo", source="Orphanet:99429"}
xref: Orphanet:754 {source="MONDO:equivalentTo"}
xref: SCTID:12313004 {source="DOID:4674", source="MONDO:equivalentTo"}
xref: UMLS:C0039585 {source="DOID:4674", source="Orphanet:754", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C27226", source="OMIM:300068", source="ORDO:754/e"}
is_a: MONDO:0017969 {source="Orphanet:754"} ! 46,XY disorder of sex development of endocrine origin
is_a: MONDO:0017977 {source="Orphanet:754"} ! 46,XY disorder of sex development of gynecological interest
is_a: MONDO:0018388 {source="Orphanet:754"} ! rare male infertility due to testicular endocrine disorder
is_a: MONDO:0021124 ! female infertility
property_value: closeMatch http://identifiers.org/snomedct/154713003
property_value: closeMatch http://identifiers.org/snomedct/190562003
property_value: closeMatch http://identifiers.org/snomedct/237802009
property_value: closeMatch http://identifiers.org/snomedct/267486007
property_value: closeMatch http://identifiers.org/snomedct/52832001
property_value: exactMatch DOID:4674
property_value: exactMatch http://identifiers.org/meddra/10056292
property_value: exactMatch http://identifiers.org/mesh/D013734
property_value: exactMatch http://identifiers.org/omim/300068
property_value: exactMatch http://identifiers.org/snomedct/12313004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0936016
property_value: exactMatch NCIT:C27226
property_value: exactMatch Orphanet:754
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0005803"}

[Term]
id: MONDO:0019155
name: Leydig cell hypoplasia
def: "Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up ( 46, XY ), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." [GARD:0003244]
subset: gard_rare
subset: ordo_disease {source="Orphanet:755"}
synonym: "46,XY disorder of sex development due to LH defects" RELATED [GARD:0003244]
synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755]
synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755]
synonym: "Leydig cell agenesis" RELATED [GARD:0003244]
synonym: "LH resistance due to LH receptor deactivation" RELATED [GARD:0003244]
synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD:0003244]
synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755]
xref: GARD:0003244 {source="MONDO:equivalentTo"}
xref: ICD10:Q56.1 {source="Orphanet:755", source="ORDO:755/attributed", source="ORDO:755/ntbt"}
xref: MedDRA:10024406 {source="ORDO:755/e", source="Orphanet:755"}
xref: Orphanet:755 {source="GARD:0003244", source="MONDO:equivalentTo"}
is_a: MONDO:0017970 {source="Orphanet:755"} ! 46,XY disorder of sex development due to impaired androgen production
is_a: MONDO:0018388 {source="Orphanet:755"} ! rare male infertility due to testicular endocrine disorder
property_value: exactMatch http://identifiers.org/meddra/10024406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0860158
property_value: exactMatch Orphanet:755

[Term]
id: MONDO:0019156
name: angioosteohypotrophic syndrome
def: "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." [Orphanet:75508]
subset: ordo_malformation_syndrome {source="Orphanet:75508"}
synonym: "Phlebectatic osteohypoplastic angiodysplasia" EXACT [Orphanet:75508]
synonym: "Servelle-Martorell syndrome" EXACT [Orphanet:75508]
xref: Orphanet:75508 {source="MONDO:equivalentTo"}
xref: SCTID:765750001 {source="MONDO:equivalentTo"}
xref: UMLS:CN205707 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016235 {source="Orphanet:75508"} ! complex vascular malformation with associated anomalies
is_a: MONDO:0016524 {source="Orphanet:75508"} ! congenital vascular bone syndrome
property_value: exactMatch http://identifiers.org/snomedct/765750001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205707
property_value: exactMatch Orphanet:75508

[Term]
id: MONDO:0019157
name: acquired idiopathic sideroblastic anemia
alt_id: MONDO:0005274
def: "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564]
subset: ordo_disease {source="Orphanet:75564"}
synonym: "AISA" EXACT [Orphanet:75564]
synonym: "MDS-RS" EXACT [NCIT:C4036]
synonym: "myelodysplastic syndrome with Ring sideroblasts" EXACT [NCIT:C4036]
synonym: "primary acquired sideroblastic anemia" EXACT [Orphanet:75564]
synonym: "Pure sideroblastic Anemia" EXACT [NCIT:C4036]
synonym: "RARS" EXACT [NCIT:C4036, Orphanet:75564]
synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036]
synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036]
synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564]
xref: EFO:0003812 {source="MONDO:equivalentTo"}
xref: ICD10:D64.3 {source="Orphanet:75564", source="ORDO:75564/ntbt"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9982/3 {source="NCIT:C4036"}
xref: NCIT:C4036 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo", source="EFO:0003812"}
xref: Orphanet:75564 {source="MONDO:equivalentTo"}
xref: SCTID:109998009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.06"}
is_a: MONDO:0015194 {source="MONDOLEX:0019157", source="Orphanet:75564", source="linkedlifedata"} ! sideroblastic anemia
is_a: MONDO:0018881 {source="EFO:0003812", source="NCIT:C4036", source="Orphanet:75564", source="linkedlifedata"} ! myelodysplastic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1264195
property_value: exactMatch http://identifiers.org/snomedct/109998009
property_value: exactMatch NCIT:C4036
property_value: exactMatch Orphanet:75564

[Term]
id: MONDO:0019158
name: tropical endomyocardial fibrosis
def: "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." [Orphanet:75565]
subset: ordo_disease {source="Orphanet:75565"}
synonym: "Davies disease" EXACT [Orphanet:75565]
synonym: "TEMF" EXACT [Orphanet:75565]
xref: ICD10:I42.3 {source="Orphanet:75565", source="ORDO:75565/ntbt"}
xref: Orphanet:75565 {source="MONDO:equivalentTo"}
xref: SCTID:715626008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C2882252 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205710 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016345 {source="Orphanet:75565"} ! non-familial restrictive cardiomyopathy
property_value: exactMatch http://identifiers.org/snomedct/715626008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2882252
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205710
property_value: exactMatch Orphanet:75565

[Term]
id: MONDO:0019159
name: Loeffler endocarditis
def: "Loeffler's endocarditis is a rare restrictive cardiomyopathy (see this term) characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia (see these terms), carcinoma, or lymphoma." [Orphanet:75566]
subset: ordo_disease {source="Orphanet:75566"}
synonym: "eosinophilic endocarditis" EXACT [Orphanet:75566]
synonym: "eosinophilic endomyocardial disease" EXACT [DOID:396, NCIT:C27044]
xref: DOID:396 {source="MONDO:equivalentTo"}
xref: ICD10:I42.3 {source="Orphanet:75566", source="DOID:396", source="ORDO:75566/ntbt"}
xref: MedDRA:10052841 {source="ORDO:75566/e", source="Orphanet:75566"}
xref: NCIT:C27044 {source="MONDO:equivalentTo", source="DOID:396"}
xref: Orphanet:75566 {source="MONDO:equivalentTo"}
xref: SCTID:449829009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.48/0.20"}
is_a: MONDO:0016345 {source="Orphanet:75566"} ! non-familial restrictive cardiomyopathy
property_value: closeMatch http://identifiers.org/snomedct/33258008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264834
property_value: exactMatch DOID:396
property_value: exactMatch http://identifiers.org/meddra/10052841
property_value: exactMatch http://identifiers.org/snomedct/449829009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206143
property_value: exactMatch NCIT:C27044
property_value: exactMatch Orphanet:75566

[Term]
id: MONDO:0019160
name: primary progressive freezing gait
def: "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." [Orphanet:75567]
subset: ordo_clinical_syndrome {source="Orphanet:75567"}
synonym: "PPFG" EXACT [Orphanet:75567]
xref: Orphanet:75567 {source="MONDO:equivalentTo"}
xref: SCTID:715627004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205712 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017635 {source="Orphanet:75567"} ! parkinsonian syndrome due to neurodegenerative disease
property_value: exactMatch http://identifiers.org/snomedct/715627004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275078
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205712
property_value: exactMatch Orphanet:75567

[Term]
id: MONDO:0019161
name: pseudohypoaldosteronism type 1
def: "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." [Orphanet:756]
subset: ordo_disease {source="Orphanet:756"}
synonym: "PHA type 1" EXACT [Orphanet:756]
synonym: "PHA1B" EXACT [NCIT:C123251]
synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251]
xref: ICD10:N25.8 {source="Orphanet:756", source="ORDO:756/attributed", source="ORDO:756/ntbt"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C123251 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.78/0.38"}
xref: Orphanet:756 {source="MONDO:equivalentTo"}
xref: SCTID:43941006 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0268436 {source="ORDO:756/e", source="NCIT:C123251", source="Orphanet:756", source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:756"} ! inherited renal tubular disease
is_a: MONDO:0018638 {source="NCIT:C123251", source="Orphanet:756", source="linkedlifedata"} ! pseudohypoaldosteronism
property_value: exactMatch http://identifiers.org/snomedct/43941006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268436
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449843
property_value: exactMatch NCIT:C123251
property_value: exactMatch Orphanet:756

[Term]
id: MONDO:0019162
name: pseudohypoaldosteronism type 2
def: "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." [Orphanet:757]
subset: ordo_disease {source="Orphanet:757"}
synonym: "chloride shunt syndrome" EXACT [Orphanet:757]
synonym: "familial hyperkalemic hypertension" EXACT [Orphanet:757]
synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT [Orphanet:757]
synonym: "Gordon syndrome" EXACT [NCIT:C123252]
synonym: "hyperkalemia-hypertension syndrome, Gordon type" EXACT [Orphanet:757]
synonym: "hyperpotassemia and hypertension familial" RELATED [GARD:0004553]
synonym: "hypertensive hyperkalemia" EXACT [Orphanet:757]
synonym: "mineralocorticoid resistant hyperkalemia" EXACT [Orphanet:757]
synonym: "PHA2" EXACT [Orphanet:757]
synonym: "PHAII" EXACT [Orphanet:757]
synonym: "pseudohypoaldosteronism, type 2" EXACT []
synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260]
synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757]
xref: GARD:0004553 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I15.1 {source="Orphanet:757", source="ORDO:757/attributed", source="ORDO:757/ntbt"}
xref: ICD9:588.89 {source="linkedlife"}
xref: NCIT:C123252 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: OMIMPS:145260 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:757 {source="MONDO:equivalentTo"}
xref: SCTID:15689008 {source="MONDO:equivalentTo"}
xref: UMLS:C1449844 {source="ORDO:757/e", source="NCIT:C123252", source="Orphanet:757", source="MONDO:equivalentTo"}
is_a: MONDO:0015512 {source="Orphanet:757"} ! genetic hypertension
is_a: MONDO:0018638 {source="NCIT:C123252", source="Orphanet:757", source="linkedlife"} ! pseudohypoaldosteronism
property_value: exactMatch http://identifiers.org/snomedct/15689008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1449844
property_value: exactMatch NCIT:C123252
property_value: exactMatch Orphanet:757

[Term]
id: MONDO:0019163
name: obsolete pseudoxanthoma elasticum
is_obsolete: true
replaced_by: MONDO:0009925

[Term]
id: MONDO:0019164
name: 6q terminal deletion syndrome
def: "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." [Orphanet:75857]
subset: ordo_malformation_syndrome {source="Orphanet:75857"}
xref: ICD10:Q93.5 {source="ORDO:75857/attributed", source="ORDO:75857/ntbt", source="Orphanet:75857"}
xref: Orphanet:75857 {source="MONDO:equivalentTo"}
xref: SCTID:719666002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304514 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205719 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:75857"} ! syndromic anorectal malformation
is_a: MONDO:0016905 {source="Orphanet:75857"} ! partial deletion of the long arm of chromosome 6
property_value: exactMatch http://identifiers.org/snomedct/719666002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205719
property_value: exactMatch Orphanet:75857

[Term]
id: MONDO:0019165
name: central precocious puberty
def: "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." [Orphanet:759]
subset: ordo_disease {source="Orphanet:759"}
synonym: "CPP" EXACT [Orphanet:759]
synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759]
synonym: "gonadotropin-dependent precocious puberty" EXACT []
synonym: "precocious puberty, central" EXACT [OMIMPS:176400]
xref: ICD10:E22.8 {source="ORDO:759/ntbt", source="Orphanet:759"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562787 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:176400 {source="MONDO:equivalentTo", source="DC:0000367"}
xref: Orphanet:759 {source="MONDO:equivalentTo"}
xref: SCTID:237816004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0342543 {source="MEDGEN:kboom-pr98-c99", source="ORDO:759/e", source="MONDO:equivalentTo", source="Orphanet:759"}
is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:759", source="linkedlifedata"} ! precocious puberty
relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:759", source="https://github.com/Orphanet/ORDO/issues/19"} ! precocious puberty in female
property_value: exactMatch http://identifiers.org/mesh/C562787
property_value: exactMatch http://identifiers.org/snomedct/237816004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342543
property_value: exactMatch Orphanet:759

[Term]
id: MONDO:0019166
name: obsolete strongyloidiasis
is_obsolete: true
replaced_by: MONDO:0005974

[Term]
id: MONDO:0019167
name: immunoglobulin a vasculitis
def: "SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." [Orphanet:761]
subset: ordo_disease {source="Orphanet:761"}
synonym: "anaphylactoid purpura" EXACT [Orphanet:761]
synonym: "Henoch Schonlein purpura" RELATED [GARD:0008204]
synonym: "Henoch-SchC6nlein purpura" EXACT [Orphanet:761]
synonym: "IgA vasculitis" EXACT [Orphanet:761]
synonym: "purpura rheumatica" EXACT [Orphanet:761]
synonym: "purpura, Schonlein-Henoch" RELATED [GARD:0008204]
synonym: "rheumatoid purpura" EXACT [Orphanet:761]
synonym: "vascular purpura" RELATED [GARD:0008204]
xref: GARD:0008204 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D69.0 {source="ORDO:761/ntbt", source="Orphanet:761"}
xref: Orphanet:761 {source="MONDO:equivalentTo"}
xref: SCTID:86074002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.59"}
is_a: MONDO:0015491 {source="Orphanet:761"} ! immune complex mediated vasculitis
is_a: MONDO:0017022 {source="Orphanet:761"} ! secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
is_a: MONDO:0019724 {source="Orphanet:761"} ! secondary glomerular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034152
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086922
property_value: exactMatch http://identifiers.org/snomedct/86074002
property_value: exactMatch Orphanet:761

[Term]
id: MONDO:0019168
name: pyomyositis
def: "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." [Orphanet:764]
subset: gard_rare {source="GARD:0004614"}
subset: ordo_disease {source="Orphanet:764"}
synonym: "myositis purulenta tropica" EXACT [Orphanet:764]
synonym: "myositis tropicans" EXACT [Orphanet:764]
synonym: "PM" EXACT [Orphanet:764]
synonym: "suppurative myositis" EXACT [Orphanet:764]
synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM_2006:040.81, Orphanet:764]
xref: DOID:876 {source="MONDO:equivalentTo"}
xref: EFO:1001409 {source="MONDO:equivalentTo"}
xref: GARD:0004614 {source="MONDO:equivalentTo"}
xref: ICD10:M60.0 {source="Orphanet:764", source="DOID:876", source="ORDO:764/ntbt"}
xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10037652 {source="Orphanet:764", source="ORDO:764/e"}
xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:764/e"}
xref: NCIT:C128382 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:764 {source="MONDO:equivalentTo"}
xref: SCTID:65110003 {source="DOID:876", source="MONDO:kboom-pr-0.90/0.76/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0041188 {source="Orphanet:764", source="MEDGEN:kboom-pr98-c99", source="DOID:876", source="MONDO:equivalentTo"}
xref: UMLS:C1704275 {source="Orphanet:764", source="MONDO:equivalentTo", source="NCIT:C128382", source="ORDO:764/e"}
is_a: MONDO:0016127 ! bacterial myositis
property_value: closeMatch http://identifiers.org/snomedct/186430009
property_value: exactMatch DOID:876
property_value: exactMatch http://identifiers.org/meddra/10037652
property_value: exactMatch http://identifiers.org/mesh/D052880
property_value: exactMatch http://identifiers.org/snomedct/65110003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041188
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704275
property_value: exactMatch NCIT:C128382
property_value: exactMatch Orphanet:764
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4614/pyomyositis xsd:anyURI {source="GARD:0004614"}

[Term]
id: MONDO:0019169
name: pyruvate dehydrogenase deficiency
def: "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." [Orphanet:765]
subset: ordo_disease {source="Orphanet:765"}
synonym: "deficiency of pyruvic dehydrogenase" EXACT [DOID:3649]
synonym: "PDH" EXACT [Orphanet:765]
synonym: "PDHC" EXACT [Orphanet:765]
synonym: "pyruvate decarboxylase deficiency" EXACT [MONDO:0005934]
synonym: "pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:765]
synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [DOID:3649]
synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649]
xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"}
xref: EFO:0007459 {source="MONDO:equivalentTo"}
xref: GARD:0007513 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E74.4 {source="Orphanet:765", source="ORDO:765/inclusion", source="DOID:3649", source="ORDO:765/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C103968 {source="MONDO:equivalentTo", source="DOID:3649"}
xref: OMIMPS:312170 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:765 {source="MONDO:equivalentTo"}
xref: SCTID:46683007 {source="MONDO:kboom-pr-0.89/0.77/0.06", source="MONDO:equivalentTo", source="DOID:3649"}
is_a: MONDO:0015920 {source="Orphanet:765"} ! syndromic neurometabolic disease with X-linked intellectual disability
is_a: MONDO:0016402 {source="Orphanet:765"} ! mitochondrial disease with epilepsy
is_a: MONDO:0016403 {source="Orphanet:765"} ! mitochondrial disease with peripheral neuropathy
is_a: MONDO:0016789 {source="Orphanet:765"} ! pyruvate metabolism disorder
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019214 {source="DOID:3649", source="EFO:0007459"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0044971 ! disease of macromolecular complex
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/snomedct/124160001
property_value: closeMatch http://identifiers.org/snomedct/190761008
property_value: exactMatch DOID:3649
property_value: exactMatch http://identifiers.org/mesh/C536257
property_value: exactMatch http://identifiers.org/mesh/D015325
property_value: exactMatch http://identifiers.org/snomedct/46683007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936911
property_value: exactMatch NCIT:C103968
property_value: exactMatch Orphanet:765

[Term]
id: MONDO:0019170
name: polyarteritis nodosa
def: "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." [Orphanet:767]
subset: ordo_disease {source="Orphanet:767"}
synonym: "classic polyarteritis nodosa" EXACT [NCIT:C26847]
synonym: "classical polyarteritis nodosa" EXACT [NCIT:C26847]
synonym: "Küssmaul-Maier disease" EXACT [Orphanet:767]
synonym: "PAN" EXACT [NCIT:C26847, Orphanet:767]
synonym: "panarteritis nodosa" EXACT [NCIT:C26847]
synonym: "periarteritis" RELATED [GARD:0007360]
synonym: "periarteritis nodosa" EXACT [NCIT:C26847, Orphanet:767]
synonym: "polyarteritis" RELATED [GARD:0007360]
synonym: "polyarteritis nodosa" EXACT [NCIT:C26847]
xref: COHD:320749 {source="MONDO:equivalentTo"}
xref: DOID:9810 {source="MONDO:equivalentTo"}
xref: GARD:0007360 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M30.0 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo"}
xref: ICD9:446.0 {source="DOID:9810", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10036024 {source="ORDO:767/e", source="Orphanet:767"}
xref: MESH:D010488 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26847 {source="DOID:9810", source="MONDO:equivalentTo"}
xref: Orphanet:767 {source="MONDO:equivalentTo"}
xref: SCTID:155441006 {source="DOID:9810", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0031036 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo", source="NCIT:C26847"}
is_a: MONDO:0043494 {source="MESH:D010488", source="NCIT:C26847", source="linkedlifedata/inferred"} ! arteritis
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:767"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:767"} ! secondary glomerular disease
property_value: closeMatch http://identifiers.org/snomedct/155445002
property_value: closeMatch http://identifiers.org/snomedct/195347004
property_value: closeMatch http://identifiers.org/snomedct/266323005
property_value: closeMatch http://identifiers.org/snomedct/286960005
property_value: closeMatch http://identifiers.org/snomedct/66121003
property_value: exactMatch DOID:9810
property_value: exactMatch http://identifiers.org/meddra/10036024
property_value: exactMatch http://identifiers.org/mesh/D010488
property_value: exactMatch http://identifiers.org/snomedct/155441006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031036
property_value: exactMatch NCIT:C26847
property_value: exactMatch Orphanet:767

[Term]
id: MONDO:0019171
name: familial long QT syndrome
def: "Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." [Orphanet:768]
subset: clingen
subset: ordo_disease {source="Orphanet:768"}
synonym: "congenital long QT syndrome" EXACT [Orphanet:768]
synonym: "hereditary long QT syndrome" EXACT [MONDO:patterns/hereditary]
xref: ICD10:I45.8 {source="Orphanet:768", source="ORDO:768/attributed", source="ORDO:768/ntbt"}
xref: MedDRA:10057926 {source="ORDO:768/e", source="Orphanet:768"}
xref: OMIMPS:192500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:768 {source="MONDO:equivalentTo"}
xref: SCTID:442917000 {source="MONDO:kboom-pr-0.93/0.86/0.09", source="MONDO:equivalentTo"}
xref: UMLS:C1141890 {source="MEDGEN:kboom-pr97-c98", source="ORDO:768/e", source="Orphanet:768", source="MONDO:equivalentTo"}
is_a: MONDO:0002442 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0019171"} ! long QT syndrome
is_a: MONDO:0015110 {source="Orphanet:768"} ! genetic cardiac rhythm disease
intersection_of: MONDO:0002442 ! long QT syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/meddra/10057926
property_value: exactMatch http://identifiers.org/snomedct/442917000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1141890
property_value: exactMatch Orphanet:768

[Term]
id: MONDO:0019172
name: aniridia
def: "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." [Orphanet:77]
subset: gard_rare {source="GARD:0005816"}
subset: ordo_group_of_disorders {source="Orphanet:77"}
synonym: "aplasia of iris" EXACT [DOID:12271]
xref: DOID:12271 {source="MONDO:equivalentTo"}
xref: GARD:0005816 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.1 {source="Orphanet:77", source="DOID:12271", source="ORDO:77/attributed", source="ORDO:77/ntbt"}
xref: ICD9:743.45 {source="MONDO:equivalentTo", source="DOID:12271", source="i2s"}
xref: MedDRA:10002532 {source="ORDO:77/e", source="Orphanet:77"}
xref: MESH:D015783 {source="ORDO:77/e", source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:ontobio"}
xref: NCIT:C84563 {source="MONDO:equivalentTo", source="DOID:12271", source="exact-label-match"}
xref: Orphanet:77 {source="MONDO:equivalentTo"}
xref: SCTID:69278003 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:kboom-pr-1.00/0.80/9.55"}
xref: UMLS:C0003076 {source="ORDO:77/e", source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="NCIT:C84563"}
is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783", source="linkedlifedata/inferred"} ! iris disease
is_a: MONDO:0020146 {source="Orphanet:77"} ! major induction processes eye anomaly
property_value: closeMatch http://identifiers.org/snomedct/204161008
property_value: exactMatch DOID:12271
property_value: exactMatch http://identifiers.org/meddra/10002532
property_value: exactMatch http://identifiers.org/mesh/C538293
property_value: exactMatch http://identifiers.org/mesh/D015783
property_value: exactMatch http://identifiers.org/snomedct/69278003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931795
property_value: exactMatch NCIT:C84563
property_value: exactMatch Orphanet:77
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5816/aniridia xsd:anyURI {source="GARD:0005816"}

[Term]
id: MONDO:0019173
name: rabies
def: "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." [Orphanet:770]
subset: gard_rare {source="GARD:0007516"}
subset: ordo_disease {source="Orphanet:770"}
synonym: "lyssa" EXACT [DOID:11260, MTHICD9_2006:071]
xref: COHD:377793 {source="MONDO:equivalentTo"}
xref: DOID:11260 {source="MONDO:equivalentTo"}
xref: GARD:0007516 {source="MONDO:equivalentTo"}
xref: ICD10:A82 {source="DOID:11260", source="MONDO:equivalentTo"}
xref: ICD10:A82.0 {source="ORDO:770/btnt", source="Orphanet:770"}
xref: ICD10:A82.1 {source="ORDO:770/btnt", source="Orphanet:770"}
xref: ICD10:A82.9 {source="ORDO:770/btnt", source="DOID:11260", source="Orphanet:770"}
xref: ICD9:071 {source="DOID:11260", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10037742 {source="ORDO:770/e", source="Orphanet:770"}
xref: MESH:D011818 {source="DOID:11260", source="MONDO:equivalentTo", source="ORDO:770/e", source="MONDO:ontobio", source="Orphanet:770"}
xref: NCIT:C28182 {source="DOID:11260", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:770 {source="MONDO:equivalentTo"}
xref: SCTID:14168008 {source="DOID:11260", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0034494 {source="DOID:11260", source="MONDO:equivalentTo", source="ORDO:770/e", source="NCIT:C28182", source="Orphanet:770"}
is_a: MONDO:0005944 ! Rhabdoviridae infectious disease
is_a: MONDO:0020010 {source="Orphanet:770"} ! infectious disease of the nervous system
property_value: closeMatch http://identifiers.org/snomedct/186644005
property_value: closeMatch http://identifiers.org/snomedct/187393002
property_value: closeMatch http://identifiers.org/snomedct/275370001
property_value: exactMatch DOID:11260
property_value: exactMatch http://identifiers.org/meddra/10037742
property_value: exactMatch http://identifiers.org/mesh/D011818
property_value: exactMatch http://identifiers.org/snomedct/14168008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034494
property_value: exactMatch NCIT:C28182
property_value: exactMatch Orphanet:770
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7516/rabies xsd:anyURI {source="GARD:0007516"}

[Term]
id: MONDO:0019174
name: infantile Refsum disease
def: "Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." [Orphanet:772]
subset: ordo_disease {source="Orphanet:772"}
synonym: "infantile form of phytanic acid storage disease" RELATED [GARD:0004648]
synonym: "IRD" EXACT [Orphanet:772]
synonym: "Refsum disease, infantile form" RELATED [GARD:0004648]
xref: GARD:0004648 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.1 {source="ORDO:772/attributed", source="ORDO:772/ntbt", source="Orphanet:772"}
xref: MESH:D052919 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="ORDO:772/e", source="Orphanet:772"}
xref: NCIT:C84789 {source="MONDO:relatedTo", source="MONDO:equivalentTo"}
xref: Orphanet:772 {source="MONDO:equivalentTo"}
xref: SCTID:238062008 {source="MONDO:equivalentTo"}
xref: UMLS:C0282527 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:772/e", source="Orphanet:772"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:772"} ! developmental anomaly of metabolic origin
is_a: MONDO:0016398 {source="Orphanet:772"} ! peroxisomal disease with epilepsy
is_a: MONDO:0019234 {source="NCIT:C84789", source="Orphanet:772"} ! peroxisome biogenesis disorder
is_a: MONDO:0020044 {source="Orphanet:772"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0020244 {source="Orphanet:772"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020281 {source="Orphanet:772"} ! metabolic disease with pigmentary retinitis
relationship: excluded_subClassOf MONDO:0009958 {source="NCIT:C84789"} ! adult Refsum disease
property_value: exactMatch http://identifiers.org/mesh/D052919
property_value: exactMatch http://identifiers.org/snomedct/238062008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282527
property_value: exactMatch NCIT:C84789
property_value: exactMatch Orphanet:772

[Term]
id: MONDO:0019175
name: primary lymphedema
def: "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." [NCIT:C48829]
subset: ordo_group_of_disorders {source="Orphanet:77240"}
synonym: "primary lymphedema" EXACT [NCIT:C48829]
synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240]
xref: ICD10:I89.0 {source="ORDO:77240/attributed", source="ORDO:77240/ntbt", source="Orphanet:77240"}
xref: NCIT:C48829 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:77240 {source="MONDO:equivalentTo"}
is_a: MONDO:0016233 {source="Orphanet:77240"} ! rare lymphatic system malformation
is_a: MONDO:0019297 {source="NCIT:C48829", source="Orphanet:77240"} ! lymphedema
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026147
property_value: exactMatch NCIT:C48829
property_value: exactMatch Orphanet:77240

[Term]
id: MONDO:0019176
name: trichorhinophalangeal syndrome type I or III
def: "Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258]
subset: ordo_malformation_syndrome {source="Orphanet:77258"}
synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258]
xref: ICD10:Q87.1 {source="Orphanet:77258", source="ORDO:77258/attributed", source="ORDO:77258/ntbt"}
xref: Orphanet:77258 {source="MONDO:equivalentTo"}
xref: UMLS:CN205736 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017951 {source="Orphanet:77258"} ! trichorhinophalangeal syndrome
union_of: MONDO:0008596 ! trichorhinophalangeal syndrome type I
union_of: MONDO:0008597 ! trichorhinophalangeal syndrome, type III
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205736
property_value: exactMatch Orphanet:77258

[Term]
id: MONDO:0019177
name: odontoleukodystrophy
def: "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." [Orphanet:77295]
subset: ordo_disease {source="Orphanet:77295"}
synonym: "dentoleukoencephalopathy" EXACT [Orphanet:77295]
synonym: "leukodystrophy with oligodontia" EXACT [Orphanet:77295]
xref: GARD:0009632 {source="MONDO:equivalentTo"}
xref: ICD10:E75.2 {source="ORDO:77295/attributed", source="ORDO:77295/ntbt", source="Orphanet:77295"}
xref: Orphanet:77295 {source="MONDO:equivalentTo"}
xref: SCTID:722064003 {source="MONDO:equivalentTo"}
is_a: MONDO:0017333 {source="Orphanet:77295"} ! hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
relationship: excluded_subClassOf MONDO:0011897 ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3502054
property_value: exactMatch http://identifiers.org/snomedct/722064003
property_value: exactMatch Orphanet:77295

[Term]
id: MONDO:0019178
name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
def: "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." [Orphanet:77300]
subset: ordo_malformation_syndrome {source="Orphanet:77300"}
xref: ICD10:Q87.0 {source="ORDO:77300/attributed", source="ORDO:77300/ntbt", source="Orphanet:77300"}
xref: Orphanet:77300 {source="MONDO:equivalentTo"}
xref: UMLS:CN205748 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015335 {source="Orphanet:77300"} ! orofacial clefting syndrome
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:77300"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205748
property_value: exactMatch Orphanet:77300

[Term]
id: MONDO:0019179
name: monosomy 9q22.3
def: "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." [Orphanet:77301]
subset: ordo_malformation_syndrome {source="Orphanet:77301"}
synonym: "microdeletion 9q22.3" EXACT [Orphanet:77301]
xref: ICD10:Q93.5 {source="Orphanet:77301", source="ORDO:77301/attributed", source="ORDO:77301/ntbt"}
xref: MESH:C579873 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:77301 {source="MONDO:equivalentTo"}
xref: SCTID:724098008 {source="MONDO:equivalentTo"}
xref: UMLS:C3711390 {source="Orphanet:77301", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016908 {source="Orphanet:77301"} ! partial monosomy of the long arm of chromosome 9
property_value: exactMatch http://identifiers.org/mesh/C579873
property_value: exactMatch http://identifiers.org/snomedct/724098008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3711390
property_value: exactMatch Orphanet:77301

[Term]
id: MONDO:0019180
name: hereditary hemorrhagic telangiectasia
def: "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." [Orphanet:774]
subset: ordo_disease {source="Orphanet:774"}
synonym: "HHT" EXACT [Orphanet:774]
synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [DOID:1270]
synonym: "Osler-Weber-Rendu disease" EXACT [DOID:1270, NCIT:C35064]
synonym: "Rendu-Osler disease" EXACT [Orphanet:774]
synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, MTHICD9_2006:448.0, Orphanet:774]
synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT:C35064]
synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300]
xref: COHD:313504 {source="MONDO:equivalentTo"}
xref: DOID:1270 {source="MONDO:equivalentTo"}
xref: GARD:0006626 {source="MONDO:equivalentTo"}
xref: ICD10:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="ORDO:774/specific", source="DOID:1270", source="ORDO:774/e"}
xref: ICD9:448.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:1270"}
xref: MedDRA:10019883 {source="Orphanet:774", source="ORDO:774/e"}
xref: MESH:D013683 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: NCIT:C35064 {source="MONDO:kboom-pr-0.90/0.78/0.31", source="MONDO:equivalentTo", source="DOID:1270"}
xref: OMIMPS:187300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:774 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: SCTID:21877004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.74/1.62", source="DOID:1270"}
xref: UMLS:C0039445 {source="Orphanet:774", source="NCIT:C35064", source="MONDO:equivalentTo", source="DOID:1270", source="ORDO:774/e"}
is_a: MONDO:0000426 {source="DOID:1270", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0001576 {source="MESH:D013683", source="NCIT:C35064"} ! telangiectasis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015145 {source="Orphanet:774"} ! neurovascular malformation
is_a: MONDO:0015331 {source="Orphanet:774"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015938 {source="Orphanet:774"} ! systemic disease
is_a: MONDO:0015953 {source="Orphanet:774", source="Orphanet:774/inferred"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0016229 ! genetic vascular anomaly
is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:774", source="indirect"} ! capillary malformation
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019293 {source="Orphanet:774"} ! skin vascular disease
is_a: MONDO:0020063 {source="Orphanet:774"} ! malformation syndrome with hamartosis
is_a: MONDO:0020201 {source="Orphanet:774"} ! conjunctival telangiectasia (disease)
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/155449008
property_value: closeMatch http://identifiers.org/snomedct/266324004
property_value: exactMatch DOID:1270
property_value: exactMatch http://identifiers.org/meddra/10019883
property_value: exactMatch http://identifiers.org/mesh/D013683
property_value: exactMatch http://identifiers.org/snomedct/21877004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039445
property_value: exactMatch NCIT:C35064
property_value: exactMatch Orphanet:774

[Term]
id: MONDO:0019181
name: non-syndromic X-linked intellectual disability
def: "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." [Orphanet:777]
subset: clingen
subset: ordo_etiological_subtype {source="Orphanet:777"}
synonym: "isolated X-linked intellectual disability" RELATED [MONDO:DesignPattern]
synonym: "mental retardation, nonsyndromic, X-linked" EXACT [OMIMPS:309530]
synonym: "mental retardation, X-linked, nonsyndromic" EXACT [MONDO:0000168]
synonym: "non-specific X-linked mental retardation" EXACT [DOID:0050776]
synonym: "non-syndromic intellectual disability, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "nonsyndromic X-linked intellectual disability" EXACT [MONDO:DesignPattern]
synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777]
synonym: "X-linked non-syndromic intellectual disability" EXACT []
synonym: "X-linked non-syndromic intellectual disability" RELATED [Orphanet:777]
xref: DC:0000656 {source="MONDO:equivalentTo"}
xref: DOID:0050776 {source="MONDO:equivalentTo"}
xref: GARD:0003542 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C564490 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:309530 {source="MONDO:equivalentTo", source="DC:0000656"}
xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"}
xref: UMLS:C3501611 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:777"} ! non-syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931498
property_value: exactMatch DOID:0050776
property_value: exactMatch http://identifiers.org/mesh/C564490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501611
property_value: exactMatch Orphanet:777

[Term]
id: MONDO:0019182
name: monogenic obesity
comment: We place OMIM:601665 here, although this includes
subset: ordo_group_of_disorders {source="Orphanet:77828"}
synonym: "genetic obesity" EXACT []
synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic]
xref: ICD10:E66.8 {source="ORDO:77828/attributed", source="ORDO:77828/ntbt", source="Orphanet:77828"}
xref: OMIM:601665 {source="MONDO:equivalentTo"}
xref: Orphanet:77828 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005151 {source="Orphanet:77828"} ! endocrine system disease
is_a: MONDO:0011122 {source="MONDO:Redundant", source="Orphanet:77828"} ! obesity disorder
intersection_of: MONDO:0011122 ! obesity disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:77828"} ! obsolete rare genetic developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: exactMatch http://identifiers.org/omim/601665
property_value: exactMatch Orphanet:77828

[Term]
id: MONDO:0019183
name: inherited odontologic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:77830"}
xref: Orphanet:77830 {source="MONDO:equivalentTo"}
xref: UMLS:CN205756 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006999 ! tooth disease
relationship: has_modifier MONDO:0021136 ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205756
property_value: exactMatch Orphanet:77830
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019184
name: obsolete ankylostomiasis
is_obsolete: true
replaced_by: MONDO:0005645

[Term]
id: MONDO:0019185
name: obsolete rhabdomyosarcoma (disease)
is_obsolete: true
replaced_by: MONDO:0005212

[Term]
id: MONDO:0019186
name: Q fever
def: "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." [NCIT:C34970]
subset: gard_rare {source="GARD:0007515"}
subset: ordo_disease {source="Orphanet:781"}
synonym: "Coxiella burnetii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Coxiella burnetii disease or disorder" EXACT []
synonym: "Coxiella burnetii fever" RELATED [GARD:0007515]
synonym: "Coxiella burnetii infectious disease" EXACT []
synonym: "Coxiellosis" EXACT [Orphanet:781]
synonym: "infection due to Coxiella burnetii" EXACT [Orphanet:781]
synonym: "nine Mile fever" EXACT [Orphanet:781]
synonym: "Q fever pneumonia" RELATED [GARD:0007515]
synonym: "quadrilateral fever" EXACT [Orphanet:781]
synonym: "query fever" EXACT [Orphanet:781]
xref: COHD:434567 {source="MONDO:equivalentTo"}
xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"}
xref: EFO:0005224 {source="MONDO:equivalentTo"}
xref: GARD:0007515 {source="MONDO:equivalentTo"}
xref: ICD10:A78 {source="MONDO:equivalentTo", source="ORDO:781/e", source="DOID:11100", source="Orphanet:781"}
xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="i2s", source="DOID:11100"}
xref: MedDRA:10037688 {source="ORDO:781/e", source="Orphanet:781"}
xref: MedDRA:10037731 {source="ORDO:781/e", source="Orphanet:781"}
xref: MESH:D011778 {source="EFO:0005224", source="MONDO:equivalentTo", source="ORDO:781/e", source="MONDO:ontobio", source="DOID:11100", source="Orphanet:781"}
xref: NCIT:C34970 {source="EFO:0005224", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11100"}
xref: Orphanet:781 {source="MONDO:equivalentTo"}
xref: SCTID:186788009 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100", source="MONDO:kboom-pr-0.95/0.75/2.05"}
xref: UMLS:C0034362 {source="MONDO:equivalentTo", source="NCIT:C34970", source="ORDO:781/e", source="DOID:11100", source="Orphanet:781"}
is_a: MONDO:0000314 {source="DOID:11100"} ! primary bacterial infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/154375001
property_value: closeMatch http://identifiers.org/snomedct/260588007
property_value: closeMatch http://identifiers.org/snomedct/266205000
property_value: closeMatch http://identifiers.org/snomedct/86012006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2973787
property_value: exactMatch DOID:11100
property_value: exactMatch http://identifiers.org/meddra/10037688
property_value: exactMatch http://identifiers.org/meddra/10037731
property_value: exactMatch http://identifiers.org/mesh/D011778
property_value: exactMatch http://identifiers.org/snomedct/186788009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034362
property_value: exactMatch NCIT:C34970
property_value: exactMatch Orphanet:781
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7515/q-fever xsd:anyURI {source="GARD:0007515"}

[Term]
id: MONDO:0019187
name: Axenfeld-Rieger syndrome
def: "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." [Orphanet:782]
subset: gard_rare {source="GARD:0005701"}
subset: ordo_malformation_syndrome {source="Orphanet:782"}
synonym: "anomaly, Rieger's" EXACT [DOID:14686, MTHICD9_2006:743.44]
synonym: "Axenfeld syndrome" EXACT [DOID:14686, Orphanet:782]
synonym: "Axenfeldt-Rieger syndrome" EXACT [NCIT:C131001]
synonym: "goniodysgenesis hypodontia" RELATED [GARD:0005701]
synonym: "Hagedoom syndrome" RELATED [DOID:14686]
synonym: "iridogoniodysgenesis with somatic anomalies" RELATED [GARD:0005701]
synonym: "RGS - Rieger syndrome" EXACT [DOID:14686]
synonym: "Rieger syndrome" EXACT [Orphanet:782]
synonym: "Rieger's anomaly" EXACT [DOID:14686]
xref: DOID:14686 {source="MONDO:equivalentTo"}
xref: GARD:0005701 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="ORDO:782/attributed", source="ORDO:782/ntbt", source="Orphanet:782"}
xref: ICD10:Q13.81 {source="DOID:14686"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10059255 {source="ORDO:782/e", source="Orphanet:782"}
xref: MESH:C535679 {source="MONDO:equivalentTo", source="ORDO:782/e", source="Orphanet:782", source="DOID:14686"}
xref: NCIT:C131001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.45"}
xref: OMIMPS:180500 {source="MONDO:equivalentTo"}
xref: Orphanet:782 {source="MONDO:equivalentTo", source="DOID:14686"}
xref: SCTID:47507006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.76/0.65", source="DOID:14686"}
xref: UMLS:C3495488 {source="MONDO:equivalentTo", source="NCIT:C131001", source="Orphanet:782"}
xref: UMLS:CN776842 {source="MONDO:equivalentTo"}
is_a: MONDO:0011119 {source="Orphanet:782"} ! iridogoniodysgenesis
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0015246 {source="Orphanet:782"} ! syndromic anorectal malformation
is_a: MONDO:0019827 {source="Orphanet:782"} ! disease associated with non-acquired combined pituitary hormone deficiency
is_a: MONDO:0020222 {source="Orphanet:782"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:782"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:782"} ! non-syndromic developmental defect of the eye
property_value: closeMatch http://identifiers.org/snomedct/86628002
property_value: exactMatch DOID:14686
property_value: exactMatch http://identifiers.org/meddra/10059255
property_value: exactMatch http://identifiers.org/mesh/C535679
property_value: exactMatch http://identifiers.org/snomedct/47507006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3495488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776842
property_value: exactMatch NCIT:C131001
property_value: exactMatch Orphanet:782
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome xsd:anyURI {source="GARD:0005701"}

[Term]
id: MONDO:0019188
name: Rubinstein-Taybi syndrome
def: "Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." [Orphanet:783]
subset: ordo_malformation_syndrome {source="Orphanet:783"}
synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, Orphanet:783]
synonym: "Broad thumbs-halluces syndrome" EXACT [Orphanet:783]
synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [DOID:1933]
synonym: "RSTS" RELATED [GARD:0007593]
synonym: "Rubinstein syndrome" EXACT [DOID:1933]
xref: DOID:1933 {source="MONDO:equivalentTo"}
xref: GARD:0007593 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="ORDO:783/ntbt", source="ORDO:783/inclusion", source="DOID:1933", source="Orphanet:783"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10039281 {source="ORDO:783/e", source="Orphanet:783"}
xref: MESH:D012415 {source="MONDO:equivalentTo", source="DOID:1933", source="ORDO:783/e", source="Orphanet:783"}
xref: NCIT:C75466 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:1933"}
xref: OMIMPS:180849 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:783 {source="MONDO:equivalentTo", source="DOID:1933"}
xref: SCTID:45582004 {source="MONDO:equivalentTo", source="DOID:1933", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0035934 {source="MONDO:equivalentTo", source="DOID:1933", source="ORDO:783/e", source="NCIT:C75466", source="Orphanet:783"}
is_a: MONDO:0000426 {source="DOID:1933", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:783", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:783"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015218 {source="Orphanet:783"} ! syndromic developmental defect of the eye
is_a: MONDO:0015329 {source="Orphanet:783", source="linkedlifedata/inferred"} ! malformation syndrome with short stature
is_a: MONDO:0015945 {source="Orphanet:783"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016565 {source="Orphanet:783"} ! syndromic genetic obesity
is_a: MONDO:0016756 {source="Orphanet:783"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019066 {source="Orphanet:783", source="Orphanet:783/inferred"} ! syndrome with brachydactyly
is_a: MONDO:0019721 {source="Orphanet:783"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0020222 {source="Orphanet:783"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020237 {source="Orphanet:783"} ! lens shape anomaly
is_a: MONDO:0020244 {source="Orphanet:783"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://identifiers.org/snomedct/157032007
property_value: exactMatch DOID:1933
property_value: exactMatch http://identifiers.org/meddra/10039281
property_value: exactMatch http://identifiers.org/mesh/D012415
property_value: exactMatch http://identifiers.org/snomedct/45582004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035934
property_value: exactMatch NCIT:C75466
property_value: exactMatch Orphanet:783

[Term]
id: MONDO:0019189
name: inborn disorder of amino acid and other organic acid metabolism
subset: ordo_group_of_disorders {source="Orphanet:79062"}
synonym: "disorder of amino acid and organic acid metabolism" EXACT []
synonym: "disorder of amino acid and other organic acid metabolism" RELATED [Orphanet:79062]
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79062 {source="MONDO:equivalentTo"}
xref: SCTID:237911005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342666 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79062"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/snomedct/237911005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342666
property_value: exactMatch Orphanet:79062

[Term]
id: MONDO:0019190
name: juvenile polyposis of infancy
def: "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." [Orphanet:79076]
subset: ordo_clinical_subtype {source="Orphanet:79076"}
synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076]
synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: ICD10:D12.6 {source="ORDO:79076/attributed", source="ORDO:79076/ntbt", source="Orphanet:79076"}
xref: Orphanet:79076 {source="MONDO:equivalentTo"}
xref: UMLS:CN205768 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017380 {source="MONDO:Redundant", source="Orphanet:79076"} ! juvenile polyposis syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205768
property_value: exactMatch Orphanet:79076

[Term]
id: MONDO:0019191
name: IgG4-related dacryoadenitis and sialadenitis
def: "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms)." [Orphanet:79078]
subset: gard_rare {source="GARD:0007043"}
subset: ordo_disease {source="Orphanet:79078"}
synonym: "chronic dacryoadenitis and sialadenitis" EXACT [Orphanet:79078]
synonym: "Mikulicz disease" EXACT [MONDO:0001599, NCIT:C34819, Orphanet:79078]
synonym: "Mikulicz disease (former)" RELATED [GARD:0007043]
synonym: "Mikulicz syndrome (former)" RELATED [GARD:0007043]
synonym: "Mikulicz's disease" EXACT [DOID:12900]
synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043]
xref: DOID:12900 {source="MONDO:equivalentTo"}
xref: GARD:0007043 {source="MONDO:equivalentTo"}
xref: ICD10:K11.8 {source="DOID:12900", source="ORDO:79078/ntbt", source="Orphanet:79078"}
xref: MedDRA:10051457 {source="ORDO:79078/e", source="Orphanet:79078"}
xref: MedDRA:10052317 {source="ORDO:79078/e", source="Orphanet:79078"}
xref: MESH:D008882 {source="DOID:12900", source="MONDO:equivalentTo", source="ORDO:79078/e", source="Orphanet:79078"}
xref: NCIT:C34819 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo"}
xref: Orphanet:79078 {source="MONDO:equivalentTo"}
xref: SCTID:7826003 {source="DOID:12900", source="MONDO:equivalentTo"}
xref: UMLS:C0026103 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo", source="ORDO:79078/e", source="Orphanet:79078"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
is_a: MONDO:0001854 {source="DOID:12900", source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal apparatus disease
is_a: MONDO:0018675 ! IgG4-related ophthalmic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/196478007
property_value: exactMatch DOID:12900
property_value: exactMatch http://identifiers.org/meddra/10051457
property_value: exactMatch http://identifiers.org/meddra/10052317
property_value: exactMatch http://identifiers.org/mesh/D008882
property_value: exactMatch http://identifiers.org/snomedct/7826003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026103
property_value: exactMatch NCIT:C34819
property_value: exactMatch Orphanet:79078
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis xsd:anyURI {source="GARD:0007043"}

[Term]
id: MONDO:0019192
name: AKT2-related familial partial lipodystrophy
subset: ordo_disease {source="Orphanet:79085"}
synonym: "AKT2-related FPLD" EXACT [Orphanet:79085]
synonym: "familial partial lipodystrophy due to AKT2 mutations" RELATED [GARD:0012599]
xref: GARD:0012599 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E88.1 {source="ORDO:79085/attributed", source="ORDO:79085/ntbt", source="Orphanet:79085"}
xref: Orphanet:79085 {source="MONDO:equivalentTo"}
xref: UMLS:CN205772 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN536246 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020088 {source="MONDOLEX:0019192", source="Orphanet:79085"} ! familial partial lipodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536246
property_value: exactMatch Orphanet:79085

[Term]
id: MONDO:0019193
name: acquired generalized lipodystrophy
def: "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." [Orphanet:79086]
subset: gard_rare {source="GARD:0012603"}
subset: ordo_disease {source="Orphanet:79086"}
synonym: "acquired generalized lipodystrophy" EXACT [MONDO:patterns/acquired]
synonym: "acquired lipoatrophic diabetes" EXACT [Orphanet:79086]
synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086]
synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086]
xref: DOID:0080300 {source="MONDO:equivalentTo"}
xref: GARD:0012603 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="ORDO:79086/ntbt", source="Orphanet:79086"}
xref: NCIT:C131089 {source="MONDO:kboom-pr-0.90/0.79/0.20", source="MONDO:equivalentTo"}
xref: Orphanet:79086 {source="MONDO:equivalentTo"}
xref: SCTID:86907008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.09"}
xref: UMLS:C0271693 {source="ORDO:79086/e", source="MONDO:equivalentTo", source="Orphanet:79086", source="NCIT:C131089"}
is_a: MONDO:0015885 {source="Orphanet:79086"} ! rare insulin-resistance syndrome
is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79086"} ! acquired lipodystrophy
is_a: MONDO:0027766 ! generalized lipodystrophy
intersection_of: MONDO:0027766 ! generalized lipodystrophy
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665770
property_value: exactMatch DOID:0080300
property_value: exactMatch http://identifiers.org/snomedct/86907008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271693
property_value: exactMatch NCIT:C131089
property_value: exactMatch Orphanet:79086
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy xsd:anyURI {source="GARD:0012603"}

[Term]
id: MONDO:0019194
name: localized lipodystrophy
def: "Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body." [Orphanet:79088]
subset: gard_rare {source="GARD:0005867"}
subset: ordo_group_of_disorders {source="Orphanet:79088"}
synonym: "centrifugal lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "drug-induced localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "focal lipodystrophy" EXACT [NCIT:C131814]
synonym: "idiopathic localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "panniculitis and localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "pressure-induced localized lipoatrophy (subtype)" RELATED [GARD:0005867]
xref: GARD:0005867 {source="MONDO:equivalentTo"}
xref: ICD10:E88.1 {source="ORDO:79088/ntbt", source="Orphanet:79088"}
xref: NCIT:C131814 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:79088 {source="MONDO:equivalentTo"}
xref: UMLS:C4329999 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
xref: UMLS:CN227583 {source="MEDGEN:kboom-pr96-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006573 {source="MONDO:Redundant", source="NCIT:C131814"} ! lipodystrophy (disease)
relationship: excluded_subClassOf MONDO:0020089 {source="Orphanet:79088"} ! acquired lipodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329999
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227583
property_value: exactMatch NCIT:C131814
property_value: exactMatch Orphanet:79088
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy xsd:anyURI {source="GARD:0005867"}

[Term]
id: MONDO:0019195
name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
def: "Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." [Orphanet:79091]
subset: ordo_disease {source="Orphanet:79091"}
synonym: "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" RELATED [GARD:0009494]
synonym: "Hereditary inclusion body myopathy type 3" RELATED [GARD:0009494]
synonym: "hereditary inclusion body myopathy type 3" EXACT [Orphanet:79091]
synonym: "HIBM3" EXACT [Orphanet:79091]
synonym: "HIBM3" RELATED [GARD:0009494]
synonym: "IBM3" EXACT [Orphanet:79091]
synonym: "IBM3" RELATED [GARD:0009494]
synonym: "Inclusion body myopathy autosomal dominant" RELATED [GARD:0009494]
synonym: "inclusion body myopathy type 3" EXACT [Orphanet:79091]
synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [GARD:0009494]
xref: GARD:0009494 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="Orphanet:79091", source="ORDO:79091/attributed", source="ORDO:79091/ntbt"}
xref: Orphanet:79091 {source="GARD:0009494", source="MONDO:equivalentTo"}
xref: SCTID:724349009 {source="MONDO:equivalentTo"}
xref: UMLS:CN205775 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia
is_a: MONDO:0016112 {source="Orphanet:79091"} ! inclusion myopathy
property_value: exactMatch http://identifiers.org/snomedct/724349009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205775
property_value: exactMatch Orphanet:79091

[Term]
id: MONDO:0019196
name: Foix-Alajouanine syndrome
def: "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years." [Orphanet:79093]
subset: ordo_malformation_syndrome {source="Orphanet:79093"}
synonym: "angiodysgenetic necrotizing myelopathy" EXACT [Orphanet:79093]
synonym: "familial osteosclerosis with abnormalities of the nervous system and meninges" EXACT [Orphanet:79093]
synonym: "Subacute angiohypertrophic myelomalacia" EXACT [Orphanet:79093]
synonym: "Subacute ascending necrotizing myelitis" EXACT [Orphanet:79093]
synonym: "Subacute necrotizing myelitis" EXACT [Orphanet:79093]
xref: ICD10:G37.4 {source="Orphanet:79093", source="ORDO:79093/ntbt"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79093 {source="MONDO:equivalentTo"}
xref: SCTID:230379007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN205776 {source="MONDO:equivalentTo"}
is_a: MONDO:0001256 {source="Orphanet:79093"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015145 {source="Orphanet:79093"} ! neurovascular malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0348023
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0472347
property_value: exactMatch http://identifiers.org/snomedct/230379007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205776
property_value: exactMatch Orphanet:79093

[Term]
id: MONDO:0019197
name: folinic acid-responsive seizures
def: "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." [Orphanet:79097]
comment: Editor note: TODO request from CHEBI
subset: ordo_disease {source="Orphanet:79097"}
synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html]
xref: ICD10:G40.3 {source="ORDO:79097/attributed", source="ORDO:79097/ntbt", source="Orphanet:79097"}
xref: Orphanet:79097 {source="MONDO:equivalentTo"}
xref: SCTID:717276003 {source="MONDO:kboom-pr-0.78/0.38/0.80", source="MONDO:equivalentTo"}
xref: UMLS:CN205780 {source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="Orphanet:79097"} ! neurometabolic disease
is_a: MONDO:0019253 {source="Orphanet:79097"} ! metabolic disease involving other neurotransmitter deficiency
is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: exactMatch http://identifiers.org/snomedct/717276003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205780
property_value: exactMatch Orphanet:79097

[Term]
id: MONDO:0019198
name: sympathetic ophthalmia
def: "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." [Orphanet:79098]
subset: ordo_disease {source="Orphanet:79098"}
synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991]
synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM_2006:360.11, Orphanet:79098]
xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"}
xref: EFO:1001205 {source="MONDO:equivalentTo"}
xref: ICD10:H44.1 {source="ORDO:79098/ntbt", source="Orphanet:79098"}
xref: ICD10:H44.13 {source="DOID:12029"}
xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10042742 {source="ORDO:79098/e", source="Orphanet:79098", source="EFO:1001205"}
xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="ORDO:79098/e", source="Orphanet:79098", source="EFO:1001205"}
xref: Orphanet:79098 {source="MONDO:equivalentTo"}
xref: SCTID:75315001 {source="DOID:12029", source="MONDO:kboom-pr-0.75/0.46/0.17", source="MONDO:equivalentTo", source="EFO:1001205"}
xref: UMLS:C0029077 {source="DOID:12029", source="MONDO:equivalentTo", source="ORDO:79098/e", source="Orphanet:79098"}
is_a: MONDO:0017255 {source="DOID:12029", source="EFO:1001205", source="MESH:D009879"} ! panuveitis (disease)
is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis
property_value: exactMatch DOID:12029
property_value: exactMatch http://identifiers.org/meddra/10042742
property_value: exactMatch http://identifiers.org/mesh/D009879
property_value: exactMatch http://identifiers.org/snomedct/75315001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029077
property_value: exactMatch Orphanet:79098

[Term]
id: MONDO:0019199
name: interstitial granulomatous dermatitis with arthritis
def: "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." [Orphanet:79099]
subset: ordo_disease {source="Orphanet:79099"}
synonym: "Ackerman dermatitis syndrome" EXACT [Orphanet:79099]
synonym: "IGDA" EXACT [Orphanet:79099]
xref: Orphanet:79099 {source="MONDO:equivalentTo"}
xref: UMLS:CN205782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="Orphanet:79099"} ! rheumatologic disorder
is_a: MONDO:0019546 {source="Orphanet:79099"} ! other acquired skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205782
property_value: exactMatch Orphanet:79099

[Term]
id: MONDO:0019200
name: retinitis pigmentosa
def: "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [Orphanet:791]
subset: clingen
subset: ordo_disease {source="Orphanet:791"}
subset: prototype_pattern
synonym: "pericentral pigmentary retinopathy" NARROW [DOID:10584]
synonym: "Rod-cone dystrophy" RELATED [GARD:0005694]
xref: DOID:10584 {source="MONDO:equivalentTo"}
xref: GARD:0005694 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:H35.5 {source="ORDO:791/ntbt", source="Orphanet:791", source="MONDO:directSiblingOf", source="ORDO:791/inclusion"}
xref: ICD10:H35.52 {source="DOID:10584"}
xref: MedDRA:10038914 {source="ORDO:791/e", source="Orphanet:791"}
xref: MESH:D012174 {source="MONDO:equivalentTo", source="ORDO:791/e", source="Orphanet:791", source="DOID:10584"}
xref: NCIT:C85045 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:10584"}
xref: OMIM:268000 {source="MONDO:equivalentTo", source="ORDO:791/e"}
xref: OMIMPS:268000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="MONDO:equivalentTo", source="DOID:10584"}
xref: SCTID:28835009 {source="MONDO:equivalentTo", source="DOID:10584", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0035334 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:791/e", source="Orphanet:791", source="NCIT:C85045", source="DOID:10584"}
xref: UMLS:C4072872 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="MESH:D012174", source="Orphanet:791", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/155113002
property_value: exactMatch DOID:10584
property_value: exactMatch http://identifiers.org/meddra/10038914
property_value: exactMatch http://identifiers.org/mesh/D012174
property_value: exactMatch http://identifiers.org/omim/268000
property_value: exactMatch http://identifiers.org/snomedct/28835009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4072872
property_value: exactMatch NCIT:C85045
property_value: exactMatch Orphanet:791

[Term]
id: MONDO:0019201
name: thyrotoxic periodic paralysis
def: "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." [Orphanet:79102]
subset: gard_rare {source="GARD:0010814"}
subset: ordo_disease {source="Orphanet:79102"}
synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102]
xref: DC:0000438 {source="MONDO:equivalentTo"}
xref: GARD:0010814 {source="MONDO:equivalentTo"}
xref: ICD10:G72.3 {source="ORDO:79102/ntbt", source="Orphanet:79102"}
xref: MedDRA:10043788 {source="ORDO:79102/e", source="Orphanet:79102"}
xref: OMIMPS:188580 {source="MONDO:equivalentTo"}
xref: Orphanet:79102 {source="MONDO:equivalentTo"}
xref: SCTID:30967002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0268446 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:79102/e", source="Orphanet:79102"}
is_a: MONDO:0000995 {source="DC:0000438", source="linkedlifedata"} ! familial periodic paralysis
property_value: exactMatch http://identifiers.org/meddra/10043788
property_value: exactMatch http://identifiers.org/snomedct/30967002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268446
property_value: exactMatch Orphanet:79102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis xsd:anyURI {source="GARD:0010814"}

[Term]
id: MONDO:0019202
name: myxofibrosarcoma
def: "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." [NCIT:C6496]
subset: ordo_disease {source="Orphanet:79105"}
synonym: "fibromyxosarcoma" EXACT [Orphanet:79105]
synonym: "MFS" RELATED [ONCOTREE:MFS]
synonym: "myxofibrosarcoma" EXACT [NCIT:C6496]
synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496]
synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105]
synonym: "myxoid MFH" EXACT [NCIT:C6496]
xref: ICD10:C49.9 {source="Orphanet:79105", source="ORDO:79105/ntbt"}
xref: ICDO:8811/3 {source="NCIT:C6496"}
xref: MedDRA:10066948 {source="Orphanet:79105", source="ORDO:79105/e"}
xref: NCIT:C6496 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.87"}
xref: ONCOTREE:MFS {source="MONDO:equivalentTo"}
xref: Orphanet:79105 {source="MONDO:equivalentTo"}
xref: SCTID:253042009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.32"}
is_a: MONDO:0002847 ! skeletal muscle cancer
is_a: MONDO:0016123 {source="Orphanet:79105"} ! muscular tumor
is_a: MONDO:0018078 {source="NCIT:C6496/inferred", source="Orphanet:79105"} ! soft tissue sarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334454
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714524
property_value: exactMatch http://identifiers.org/meddra/10066948
property_value: exactMatch http://identifiers.org/snomedct/253042009
property_value: exactMatch NCIT:C6496
property_value: exactMatch Orphanet:79105

[Term]
id: MONDO:0019203
name: acute interstitial pneumonia
def: "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia (see this term)." [Orphanet:79126]
subset: ordo_disease {source="Orphanet:79126"}
synonym: "accelerated interstitial pneumonia" EXACT [DOID:2800]
synonym: "acute interstitial pneumonitis" EXACT [DOID:2800, Orphanet:79126]
synonym: "AIP" EXACT [DOID:2800, NCIT:C35806]
synonym: "Hamman-rich disease" EXACT [DOID:2800]
synonym: "Hamman-rich syndrome" EXACT [DOID:2800, Orphanet:79126]
synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [DOID:2800]
xref: COHD:4341520 {source="MONDO:equivalentTo"}
xref: DOID:2800 {source="MONDO:equivalentTo"}
xref: GARD:0012835 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:J84.1 {source="ORDO:79126/ntbt", source="Orphanet:79126"}
xref: ICD10:J84.114 {source="DOID:2800"}
xref: ICD9:516.33 {source="DOID:2800"}
xref: MedDRA:10066728 {source="ORDO:79126/e", source="Orphanet:79126"}
xref: NCIT:C35806 {source="MONDO:kboom-pr-0.90/0.79/0.12", source="MONDO:equivalentTo", source="DOID:2800"}
xref: Orphanet:79126 {source="MONDO:equivalentTo"}
xref: SCTID:236302005 {source="MONDO:kboom-pr-0.84/0.66/0.09", source="MONDO:equivalentTo", source="DOID:2800"}
xref: UMLS:C1279945 {source="NCIT:C35806", source="MONDO:equivalentTo", source="DOID:2800", source="ORDO:79126/e", source="Orphanet:79126"}
is_a: MONDO:0008345 {source="MONDOLEX:0019203"} ! idiopathic pulmonary fibrosis
property_value: closeMatch http://identifiers.org/snomedct/129459004
property_value: closeMatch http://identifiers.org/snomedct/35037009
property_value: closeMatch http://identifiers.org/snomedct/45157009
property_value: exactMatch DOID:2800
property_value: exactMatch http://identifiers.org/meddra/10066728
property_value: exactMatch http://identifiers.org/snomedct/236302005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085786
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279945
property_value: exactMatch NCIT:C35806
property_value: exactMatch Orphanet:79126

[Term]
id: MONDO:0019204
name: respiratory bronchiolitis-interstitial lung disease syndrome
def: "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." [Orphanet:79127]
subset: ordo_disease {source="Orphanet:79127"}
synonym: "RB-ILD" EXACT [Orphanet:79127]
xref: ICD10:J68.4 {source="Orphanet:79127", source="ORDO:79127/ntbt"}
xref: MedDRA:10066393 {source="Orphanet:79127", source="ORDO:79127/e"}
xref: Orphanet:79127 {source="MONDO:equivalentTo"}
xref: UMLS:CN205794 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002429 {source="Orphanet:79127"} ! idiopathic interstitial pneumonia
property_value: exactMatch http://identifiers.org/meddra/10066393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1276236
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1735355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205794
property_value: exactMatch Orphanet:79127

[Term]
id: MONDO:0019205
name: trichodysplasia-amelogenesis imperfecta syndrome
def: "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." [Orphanet:79129]
subset: ordo_malformation_syndrome {source="Orphanet:79129"}
xref: Orphanet:79129 {source="MONDO:equivalentTo"}
xref: UMLS:CN205796 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015336 {source="Orphanet:79129"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0019287 {source="Orphanet:79129"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205796
property_value: exactMatch Orphanet:79129

[Term]
id: MONDO:0019206
name: sparse hair-short stature-skin anomalies syndrome
def: "Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked." [Orphanet:79132]
subset: ordo_malformation_syndrome {source="Orphanet:79132"}
xref: Orphanet:79132 {source="MONDO:equivalentTo"}
xref: UMLS:CN205797 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:79132"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205797
property_value: exactMatch Orphanet:79132

[Term]
id: MONDO:0019207
name: DEND syndrome
def: "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." [Orphanet:79134]
subset: ordo_disease {source="Orphanet:79134"}
synonym: "developmental delay-epilepsy-neonatal diabetes syndrome" EXACT [Orphanet:79134]
synonym: "K ATP associated developmental delay, epilepsy and neonatal diabetes" EXACT [NCIT:C131845]
xref: ICD10:P70.2 {source="MONDO:subClassOf", source="ORDO:79134/attributed", source="ORDO:79134/ntbt", source="Orphanet:79134"}
xref: NCIT:C131845 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:79134 {source="MONDO:equivalentTo"}
xref: SCTID:721088003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1853564 {source="MONDO:equivalentTo", source="Orphanet:79134", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4303593 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0015650 {source="Orphanet:79134"} ! epilepsy syndrome
is_a: MONDO:0100164 ! permanent neonatal diabetes mellitus
property_value: exactMatch http://identifiers.org/snomedct/721088003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1853564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303593
property_value: exactMatch NCIT:C131845
property_value: exactMatch Orphanet:79134

[Term]
id: MONDO:0019208
name: Bickerstaff brainstem encephalitis
def: "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." [Orphanet:79138]
subset: ordo_disease {source="Orphanet:79138"}
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="Orphanet:79138", source="ORDO:79138/ntbt"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79138 {source="MONDO:equivalentTo"}
xref: SCTID:427086003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.88"}
xref: UMLS:C1960543 {source="Orphanet:79138", source="MONDO:equivalentTo", source="ORDO:79138/e"}
is_a: MONDO:0016494 {source="Orphanet:79138"} ! regional variant of Guillain-Barre syndrome
is_a: MONDO:0020068 {source="Orphanet:79138"} ! postinfectious encephalitis
is_a: MONDO:0020640 ! autoimmune encephalitis
is_a: MONDO:0021670 ! post-infectious syndrome
property_value: exactMatch http://identifiers.org/snomedct/427086003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1960543
property_value: exactMatch Orphanet:79138

[Term]
id: MONDO:0019209
name: Japanese encephalitis
def: "a disease due to a virus transmitted by an arthropod)." [Orphanet:79139]
subset: gard_rare {source="GARD:0006797"}
subset: ordo_disease {source="Orphanet:79139"}
synonym: "Japanese B encephalitis" EXACT [DOID:10844, MTHICD9_2006:062.0]
synonym: "JE" RELATED [GARD:0006797]
xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"}
xref: EFO:0007332 {source="MONDO:equivalentTo"}
xref: GARD:0006797 {source="MONDO:equivalentTo"}
xref: ICD10:A83.0 {source="Orphanet:79139", source="DOID:10844", source="ORDO:79139/e"}
xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10014596 {source="Orphanet:79139", source="ORDO:79139/e"}
xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:0007332", source="ORDO:79139/e"}
xref: NCIT:C34577 {source="DOID:10844", source="MONDO:equivalentTo"}
xref: Orphanet:79139 {source="MONDO:equivalentTo"}
xref: SCTID:52947006 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.36"}
xref: UMLS:C0014057 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="ORDO:79139/e"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0015659 {source="Orphanet:79139"} ! infectious disease with epilepsy
is_a: MONDO:0020601 ! mosquito-borne viral encephalitis
property_value: closeMatch http://identifiers.org/snomedct/154345006
property_value: closeMatch http://identifiers.org/snomedct/266194002
property_value: exactMatch DOID:10844
property_value: exactMatch http://identifiers.org/meddra/10014596
property_value: exactMatch http://identifiers.org/mesh/D004672
property_value: exactMatch http://identifiers.org/snomedct/52947006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014057
property_value: exactMatch NCIT:C34577
property_value: exactMatch Orphanet:79139
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis xsd:anyURI {source="GARD:0006797"}

[Term]
id: MONDO:0019210
name: cutaneous neuroendocrine carcinoma
def: "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." [Orphanet:79140]
subset: ordo_disease {source="Orphanet:79140"}
synonym: "carcinoma of Merkel cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, Merkel cell" RELATED [GARD:0009266]
synonym: "cutaneous APUDoma" EXACT [NCIT:C9231]
synonym: "cutaneous neuroendocrine carcinoma" EXACT [NCIT:C9231]
synonym: "MCC" EXACT [ONCOTREE:MCC, Orphanet:79140]
synonym: "Merkel cell cancer" EXACT [NCIT:C9231]
synonym: "Merkel cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C9231, Orphanet:79140]
synonym: "Merkel cell tumor" EXACT [NCIT:C9231]
synonym: "Merkle tumors" RELATED [GARD:0009266]
synonym: "neuroendocrine carcinoma of skin" EXACT [NCIT:C9231]
synonym: "neuroendocrine carcinoma of the skin" EXACT [NCIT:C9231]
synonym: "neuroendocrine skin carcinoma" EXACT [NCIT:C9231]
synonym: "trabecular cancer" EXACT [NCIT:C9231]
synonym: "trabecular skin carcinoma" EXACT [NCIT:C9231]
xref: COHD:4100425 {source="MONDO:equivalentTo"}
xref: EFO:1001471 {source="MONDO:equivalentTo"}
xref: GARD:0009266 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C44.3 {source="ORDO:79140/btnt", source="Orphanet:79140"}
xref: ICD10:C44.6 {source="ORDO:79140/btnt", source="Orphanet:79140"}
xref: ICD10:C44.7 {source="ORDO:79140/btnt", source="Orphanet:79140"}
xref: ICD9:209.36 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8247/3 {source="NCIT:C9231"}
xref: MESH:D015266 {source="MONDO:equivalentTo"}
xref: NCIT:C9231 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:MCC {source="MONDO:equivalentTo"}
xref: Orphanet:79140 {source="MONDO:equivalentTo"}
xref: SCTID:253001006 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="MONDO:equivalentTo"}
xref: UMLS:C0007129 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:79140", source="NCIT:C9231"}
is_a: MONDO:0002120 {source="MESH:D015266", source="MONDO:Redundant", source="MONDOLEX:0019210", source="NCIT:C9231", source="OWLReasoner:2017"} ! neuroendocrine carcinoma
is_a: MONDO:0002656 {source="MONDO:Redundant", source="MONDOLEX:0019210", source="NCIT:C9231"} ! skin carcinoma
is_a: MONDO:0003363 {source="MONDO:Entailed", source="NCIT:C9231"} ! malignant dermis tumor
is_a: MONDO:0005872 ! nervous system cancer
is_a: MONDO:0015081 {source="Orphanet:79140"} ! neuroendocrine tumor with other location
is_a: MONDO:0017341 {source="Orphanet:79140"} ! virus associated tumor
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79140"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/mesh/D015266
property_value: exactMatch http://identifiers.org/snomedct/253001006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007129
property_value: exactMatch NCIT:C9231
property_value: exactMatch Orphanet:79140

[Term]
id: MONDO:0019211
name: isolated congenital anonychia
def: "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." [Orphanet:79143]
subset: ordo_disease {source="Orphanet:79143"}
synonym: "autosomal recessive nonsyndromic congenital nail disorder-4" RELATED [GARD:0012930]
synonym: "congenital anonychia" RELATED [GARD:0012930]
synonym: "isolated anonychia" EXACT [Orphanet:79143]
synonym: "nonsyndromic congenital nail disorder, 4" RELATED [GARD:0012930]
xref: GARD:0012930 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q84.3 {source="ORDO:79143/e", source="Orphanet:79143", source="ORDO:79143/specific"}
xref: Orphanet:79143 {source="MONDO:equivalentTo"}
is_a: MONDO:0015331 {source="Orphanet:79143"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0019284 {source="Orphanet:79143"} ! inherited isolated nail anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265998
property_value: exactMatch Orphanet:79143

[Term]
id: MONDO:0019212
name: disseminated superficial actinic porokeratosis
def: "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis (see this term) characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." [Orphanet:79152]
subset: ordo_disease {source="Orphanet:79152"}
xref: GARD:0010983 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="ORDO:79152/attributed", source="ORDO:79152/ntbt", source="Orphanet:79152"}
xref: ICD9:692.75 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:79152 {source="MONDO:equivalentTo"}
xref: SCTID:41495000 {source="MONDO:kboom-pr-0.96/0.76/2.17", source="MONDO:equivalentTo"}
is_a: MONDO:0006602 {source="MONDOLEX:0019212", source="Orphanet:79152", source="linkedlifedata"} ! porokeratosis (disease)
relationship: has_modifier MONDO:0022202 ! disseminated
property_value: exactMatch http://identifiers.org/snomedct/41495000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265970
property_value: exactMatch Orphanet:79152

[Term]
id: MONDO:0019213
name: cerebral organic aciduria
def: "A inherited organic acidemia that involves the brain." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79158"}
synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern]
xref: Orphanet:79158 {source="MONDO:equivalentTo"}
is_a: MONDO:0000688 {source="MONDO:Redundant", source="Orphanet:79158"} ! inherited organic acidemia
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch Orphanet:79158

[Term]
id: MONDO:0019214
name: inborn carbohydrate metabolic disorder
def: "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79161"}
synonym: "carbohydrate metabolic disorder" RELATED [DOID:2978]
synonym: "carbohydrate metabolism disorder" EXACT [NCIT:C97089]
synonym: "disorder of carbohydrate metabolism" RELATED [Orphanet:79161]
synonym: "disorder of carbohydrate transport and metabolism" EXACT [DOID:2978]
synonym: "inborn carbohydrate metabolic process disorder" EXACT []
synonym: "inborn carbohydrate metabolism disorder" EXACT [CSP2005:0551-8201, DOID:2978]
synonym: "inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of carbohydrate metabolism" EXACT [DOID:2978]
synonym: "rare inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of carbohydrate metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:2978 {source="MONDO:equivalentTo"}
xref: EFO:1000061 {source="MONDO:equivalentTo"}
xref: ICD9:271.8 {source="DOID:2978"}
xref: MedDRA:10061023 {source="ORDO:79161/e", source="Orphanet:79161"}
xref: MESH:D002239 {source="MONDO:equivalentTo", source="DOID:2978", source="MONDO:ontobio"}
xref: NCIT:C97089 {source="MONDO:equivalentTo"}
xref: Orphanet:79161 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="DOID:2978", source="MESH:D002239", source="MONDO:Redundant", source="Orphanet:79161"} ! inborn errors of metabolism
is_a: MONDO:0037792 ! carbohydrate metabolism disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029777
property_value: exactMatch DOID:2978
property_value: exactMatch http://identifiers.org/meddra/10061023
property_value: exactMatch http://identifiers.org/mesh/D002239
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149670
property_value: exactMatch NCIT:C97089
property_value: exactMatch Orphanet:79161

[Term]
id: MONDO:0019215
name: classic organic aciduria
subset: ordo_group_of_disorders {source="Orphanet:79163"}
xref: Orphanet:79163 {source="MONDO:equivalentTo"}
is_a: MONDO:0000688 {source="Orphanet:79163"} ! inherited organic acidemia
property_value: exactMatch Orphanet:79163

[Term]
id: MONDO:0019216
name: inborn disorder of amino acid absorption and transport
comment: Editor note: consider changing to transport
subset: ordo_group_of_disorders {source="Orphanet:79166"}
synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166]
synonym: "disorder of amino acid transport" RELATED []
xref: ICD10:E72.0 {source="ORDO:79166/e", source="Orphanet:79166", source="ORDO:79166/specific"}
xref: ICD9:270.0 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:79166 {source="MONDO:equivalentTo"}
xref: SCTID:16784003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268641 {source="MONDO:equivalentTo", source="ORDO:79166/e", source="Orphanet:79166"}
is_a: MONDO:0019189 {source="Orphanet:79166", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://identifiers.org/snomedct/16784003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268641
property_value: exactMatch Orphanet:79166

[Term]
id: MONDO:0019217
name: inborn disorder of urea cycle metabolism and ammonia detoxification
subset: ordo_group_of_disorders {source="Orphanet:79167"}
synonym: "disorder of urea cycle metabolism and ammonia detoxification" RELATED [Orphanet:79167]
synonym: "UCD" RELATED [GARD:0007837]
synonym: "urea cycle disorders" RELATED [GARD:0007837]
xref: GARD:0007837 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E72.2 {source="ORDO:79167/attributed", source="ORDO:79167/ntbt", source="Orphanet:79167"}
xref: Orphanet:79167 {source="MONDO:equivalentTo"}
is_a: MONDO:0004739 {source="https://github.com/monarch-initiative/mondo/issues/1493", source="https://orcid.org/0000-0001-5208-3432"} ! urea cycle disorder
property_value: exactMatch Orphanet:79167

[Term]
id: MONDO:0019218
name: inborn disorder of bile acid synthesis
def: "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." [Orphanet:79168]
subset: ordo_group_of_disorders {source="Orphanet:79168"}
synonym: "disorder of bile acid synthesis" RELATED [Orphanet:79168]
synonym: "inborn bile acid biosynthetic process disorder" EXACT []
synonym: "inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of bile acid synthesis" RELATED [GTR:AN0923838]
synonym: "rare inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of bile acid biosynthetic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: GTR:AN0923838 {source="UMLS:CN544763"}
xref: Orphanet:79168 {source="MONDO:equivalentTo"}
xref: UMLS:CN231736 {source="MONDO:equivalentTo"}
xref: UMLS:CN544763 {source="MONDO:equivalentTo"}
is_a: MONDO:0000688 ! inherited organic acidemia
is_a: MONDO:0019256 {source="Orphanet:79168"} ! sterol metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN231736
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN544763
property_value: exactMatch Orphanet:79168

[Term]
id: MONDO:0019219
name: inborn disorder of neurotransmitter metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:79169"}
synonym: "disorder of neurotransmitter metabolism and transport" RELATED [Orphanet:79169]
xref: Orphanet:79169 {source="MONDO:equivalentTo"}
xref: UMLS:CN227586 {source="MONDO:equivalentTo"}
is_a: MONDO:0019250 {source="Orphanet:79169"} ! inborn disorder of biogenic amine metabolism and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227586
property_value: exactMatch Orphanet:79169

[Term]
id: MONDO:0019220
name: inborn disorder of cobalamin metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:79171"}
synonym: "disorder of cobalamin metabolism and transport" RELATED [Orphanet:79171]
xref: Orphanet:79171 {source="MONDO:equivalentTo"}
xref: UMLS:CN043592 {source="MONDO:equivalentTo"}
xref: UMLS:CN227587 {source="MONDO:equivalentTo"}
is_a: MONDO:0017758 {source="Orphanet:79171"} ! disorder of vitamin and non-protein cofactor absorption and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043592
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227587
property_value: exactMatch Orphanet:79171

[Term]
id: MONDO:0019221
name: obsolete creatine deficiency syndrome
is_obsolete: true
replaced_by: MONDO:0000456

[Term]
id: MONDO:0019222
name: inborn disorder of methionine cycle and sulfur amino acid metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: check this
subset: ordo_group_of_disorders {source="Orphanet:79173"}
synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173]
synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [Orphanet:79173]
synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sulfur amino acid metabolic process disorder" EXACT []
synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sulfur amino acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E72.1 {source="ORDO:79173/attributed", source="ORDO:79173/ntbt", source="Orphanet:79173"}
xref: ICD9:270.4 {source="i2s"}
xref: Orphanet:79173 {source="MONDO:equivalentTo"}
xref: SCTID:28882002 {source="MONDO:equivalentTo"}
xref: UMLS:CN227589 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0056803 ! sulfur metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/28882002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227589
property_value: exactMatch Orphanet:79173

[Term]
id: MONDO:0019223
name: inborn disorder of fatty acid oxidation and ketone body metabolism
subset: ordo_group_of_disorders {source="Orphanet:79174"}
synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174]
xref: ICD10:E71.3 {source="ORDO:79174/attributed", source="ORDO:79174/ntbt", source="Orphanet:79174"}
xref: Orphanet:79174 {source="MONDO:equivalentTo"}
xref: UMLS:CN227590 {source="MONDO:equivalentTo"}
is_a: MONDO:0019243 {source="Orphanet:79174"} ! inborn disorder of energy metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227590
property_value: exactMatch Orphanet:79174

[Term]
id: MONDO:0019224
name: inborn disorder of gamma-aminobutyric acid metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79175"}
synonym: "disorder of GABA metabolism" EXACT [Orphanet:79175]
synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:79175]
synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT []
synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E72.8 {source="ORDO:79175/attributed", source="ORDO:79175/ntbt", source="Orphanet:79175"}
xref: Orphanet:79175 {source="MONDO:equivalentTo"}
xref: UMLS:CN227591 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
is_a: MONDO:0019250 {source="Orphanet:79175"} ! inborn disorder of biogenic amine metabolism and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227591
property_value: exactMatch Orphanet:79175

[Term]
id: MONDO:0019225
name: gluconeogenesis disorder
def: "An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79177"}
synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn gluconeogenesis disorder" EXACT []
synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of gluconeogenesis" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E74.4 {source="ORDO:79177/attributed", source="ORDO:79177/ntbt", source="Orphanet:79177"}
xref: Orphanet:79177 {source="MONDO:equivalentTo"}
xref: UMLS:CN227592 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002908 ! glucose metabolism disease
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79177"} ! inborn carbohydrate metabolic disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227592
property_value: exactMatch Orphanet:79177

[Term]
id: MONDO:0019226
name: glucose transport disorder
def: "An acquired metabolic disease that is has its basis in the disruption of glucose transport." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79178"}
synonym: "inborn error of glucose transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glucose transport" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E74.8 {source="ORDO:79178/attributed", source="ORDO:79178/ntbt", source="Orphanet:79178"}
xref: Orphanet:79178 {source="MONDO:equivalentTo"}
xref: UMLS:CN227593 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017706 {source="Orphanet:79178"} ! disorder of carbohydrate absorption and transport
is_a: MONDO:0045015 ! carbohydrate transport disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227593
property_value: exactMatch Orphanet:79178

[Term]
id: MONDO:0019227
name: inborn disorder of glycerol metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79179"}
synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179]
synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycerol metabolic process disorder" EXACT []
synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glycerol metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:79179 {source="MONDO:equivalentTo"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79179"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0037807 ! glycerol metabolism disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342762
property_value: exactMatch Orphanet:79179

[Term]
id: MONDO:0019228
name: inborn disorder of histidine metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79181"}
synonym: "disorder of histidine metabolism" BROAD [Orphanet:79181]
synonym: "disturbances of histidine metabolism" EXACT [DOID:9265]
synonym: "histidine metabolism disease" RELATED [DOID:9265]
synonym: "inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn histidine metabolic process disorder" EXACT []
synonym: "rare inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of histidine metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:9265 {source="MONDO:equivalentTo"}
xref: ICD10:E70.4 {source="DOID:9265"}
xref: ICD10:E70.40 {source="MONDO:equivalentTo", source="DOID:9265"}
xref: ICD10:E70.8 {source="Orphanet:79181", source="ORDO:79181/inclusion", source="ORDO:79181/ntbt"}
xref: ICD9:270.5 {source="DOID:9265"}
xref: Orphanet:79181 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder
is_a: MONDO:0004738 ! histidine metabolism disease
property_value: closeMatch http://identifiers.org/snomedct/190715008
property_value: exactMatch DOID:9265
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268512
property_value: exactMatch Orphanet:79181

[Term]
id: MONDO:0019229
name: inborn disorder of ketolysis
def: "An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79183"}
synonym: "disorder of ketolysis" BROAD [Orphanet:79183]
synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn ketone body catabolic process disorder" EXACT []
synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of ketone body catabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E71.3 {source="Orphanet:79183", source="ORDO:79183/attributed", source="ORDO:79183/ntbt"}
xref: Orphanet:79183 {source="MONDO:equivalentTo"}
xref: UMLS:CN227594 {source="MONDO:equivalentTo"}
is_a: MONDO:0019223 {source="Orphanet:79183"} ! inborn disorder of fatty acid oxidation and ketone body metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227594
property_value: exactMatch Orphanet:79183

[Term]
id: MONDO:0019230
name: inborn disorder of ornithine or proline metabolism
subset: ordo_group_of_disorders {source="Orphanet:79185"}
synonym: "disorder of ornithine or proline metabolism" RELATED [Orphanet:79185]
xref: Orphanet:79185 {source="MONDO:equivalentTo"}
xref: UMLS:CN227595 {source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:79185"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227595
property_value: exactMatch Orphanet:79185

[Term]
id: MONDO:0019231
name: inborn disorder of pentose phosphate metabolism
subset: ordo_group_of_disorders {source="Orphanet:79186"}
synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186]
xref: ICD10:E74.8 {source="ORDO:79186/attributed", source="ORDO:79186/ntbt", source="Orphanet:79186"}
xref: Orphanet:79186 {source="MONDO:equivalentTo"}
xref: UMLS:CN227596 {source="MONDO:equivalentTo"}
is_a: MONDO:0018605 {source="Orphanet:79186"} ! disorders of pentose/polyol metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227596
property_value: exactMatch Orphanet:79186

[Term]
id: MONDO:0019232
name: inborn disorder of peptide metabolism
subset: ordo_group_of_disorders {source="Orphanet:79187"}
synonym: "disorder of peptide metabolism" RELATED [Orphanet:79187]
xref: Orphanet:79187 {source="MONDO:equivalentTo"}
xref: UMLS:CN227597 {source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:79187"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227597
property_value: exactMatch Orphanet:79187

[Term]
id: MONDO:0019233
name: peroxisomal beta-oxidation disorder
subset: gard_rare {source="GARD:0012470"}
subset: ordo_group_of_disorders {source="Orphanet:79188"}
xref: GARD:0012470 {source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="ORDO:79188/attributed", source="ORDO:79188/ntbt", source="Orphanet:79188"}
xref: Orphanet:79188 {source="MONDO:equivalentTo"}
xref: UMLS:CN227598 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017753 {source="Orphanet:79188"} ! disorder of peroxisomal alpha-, beta- and omega-oxidation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227598
property_value: exactMatch Orphanet:79188
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder xsd:anyURI {source="GARD:0012470"}

[Term]
id: MONDO:0019234
name: peroxisome biogenesis disorder
def: "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." [Orphanet:79189]
subset: ordo_group_of_disorders {source="Orphanet:79189"}
synonym: "cerebrohepatorenal syndrome" NARROW [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "disorders of peroxisome biogenesis" RELATED [GARD:0009473]
synonym: "PBD, ZSS" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "PBD-Zellweger spectrum disorder" RELATED [GARD:0011890]
synonym: "PBD-ZSD" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "PBD-ZSS" RELATED [GARD:0011890]
synonym: "peroxisomal biogenesis disorders" RELATED [GARD:0009473]
synonym: "peroxisomal biogenesis disorders, Zellweger syndrome spectrum" RELATED [GARD:0011890]
synonym: "peroxisome biogenesis disorder spectrum" EXACT [Orphanet:79189]
synonym: "peroxisome biogenesis disorder-Zellweger syndrome spectrum" RELATED [GARD:0011890]
synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "Zellweger spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "Zellweger spectrum disorder" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "Zellweger spectrum disorders" RELATED [GARD:0011890]
synonym: "Zellweger syndrome spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
synonym: "ZSD" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm]
xref: GARD:0009473 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: GARD:0011890 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C531857 {source="MONDO:equivalentTo"}
xref: MESH:C536664 {source="MONDO:equivalentTo", source="ORDO:79189/e", source="Orphanet:79189"}
xref: NCIT:C146639 {source="MONDO:equivalentTo", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
xref: OMIMPS:214100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79189 {source="MONDO:equivalentTo"}
xref: SCTID:742876007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0019234", source="NCIT:C85239"} ! syndromic disease
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016133 {source="Orphanet:79189"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019053 {source="Orphanet:79189"} ! peroxisomal disease
is_a: MONDO:0019058 {source="Orphanet:79189"} ! neurometabolic disease
property_value: exactMatch http://identifiers.org/mesh/C531857
property_value: exactMatch http://identifiers.org/mesh/C536664
property_value: exactMatch http://identifiers.org/snomedct/742876007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832200
property_value: exactMatch NCIT:C146639
property_value: exactMatch Orphanet:79189

[Term]
id: MONDO:0019235
name: inborn disorder of phenylalanin or tyrosine metabolism
subset: ordo_group_of_disorders {source="Orphanet:79190"}
synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [Orphanet:79190]
xref: Orphanet:79190 {source="MONDO:equivalentTo"}
xref: UMLS:CN227599 {source="MONDO:equivalentTo"}
is_a: MONDO:0019189 {source="Orphanet:79190"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227599
property_value: exactMatch Orphanet:79190

[Term]
id: MONDO:0019236
name: inborn disorder of purine metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79191"}
synonym: "disorder of purine metabolism" RELATED [Orphanet:79191]
synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn purine nucleobase metabolic process disorder" EXACT []
synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of purine nucleobase metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: MedDRA:10061476 {source="ORDO:79191/e", source="Orphanet:79191"}
xref: Orphanet:79191 {source="MONDO:equivalentTo"}
is_a: MONDO:0019254 {source="Orphanet:79191"} ! inborn disorder of purine or pyrimidine metabolism
is_a: MONDO:0037829 ! purine metabolism disease
property_value: exactMatch http://identifiers.org/meddra/10061476
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268104
property_value: exactMatch Orphanet:79191

[Term]
id: MONDO:0019237
name: inborn disorder of pyridoxine metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79192"}
synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192]
synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyridoxine metabolic process disorder" EXACT []
synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of pyridoxine metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:G40.8 {source="Orphanet:79192", source="ORDO:79192/attributed", source="ORDO:79192/ntbt"}
xref: Orphanet:79192 {source="MONDO:equivalentTo"}
xref: UMLS:CN227600 {source="MONDO:equivalentTo"}
is_a: MONDO:0005528 ! inborn vitamin metabolic disorder
is_a: MONDO:0019250 {source="Orphanet:79192"} ! inborn disorder of biogenic amine metabolism and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227600
property_value: exactMatch Orphanet:79192

[Term]
id: MONDO:0019238
name: inborn disorder of pyrimidine metabolism
def: "ANPM" [Orphanet:79193]
subset: ordo_group_of_disorders {source="Orphanet:79193"}
synonym: "disorder of pyrimidine metabolism" RELATED [Orphanet:79193]
synonym: "inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT []
synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475]
synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of pyrimidine nucleobase metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:0050832 {source="MONDO:equivalentTo"}
xref: MedDRA:10070969 {source="ORDO:79193/e", source="Orphanet:79193"}
xref: Orphanet:79193 {source="MONDO:equivalentTo"}
is_a: MONDO:0019254 {source="Orphanet:79193"} ! inborn disorder of purine or pyrimidine metabolism
is_a: MONDO:0037937 ! pyrimidine metabolism disease
property_value: exactMatch DOID:0050832
property_value: exactMatch http://identifiers.org/meddra/10070969
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268127
property_value: exactMatch Orphanet:79193

[Term]
id: MONDO:0019239
name: inborn disorder of serine family metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79194"}
synonym: "disorder of serine or glycine metabolism" RELATED [Orphanet:79194]
synonym: "inborn disorder of serine or glycine metabolism" EXACT [Orphanet:79194]
synonym: "inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn serine family amino acid metabolic process disorder" EXACT []
synonym: "rare inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of serine family amino acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:79194 {source="MONDO:equivalentTo"}
xref: UMLS:CN227601 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227601
property_value: exactMatch Orphanet:79194

[Term]
id: MONDO:0019240
name: sterol biosynthesis disorder
def: "An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79195"}
synonym: "inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sterol biosynthetic process disorder" EXACT []
synonym: "rare inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sterol biosynthetic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:79195 {source="MONDO:equivalentTo"}
xref: UMLS:CN227602 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 {source="Orphanet:79195"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019256 {source="MONDO:Redundant", source="Orphanet:79195"} ! sterol metabolism disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227602
property_value: exactMatch Orphanet:79195

[Term]
id: MONDO:0019241
name: inborn disorder of the gamma-glutamyl cycle
comment: Editor note: request from GO
subset: ordo_group_of_disorders {source="Orphanet:79196"}
synonym: "disorder of gamma-glutamyl cycle" RELATED []
synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196]
xref: ICD10:E72.8 {source="ORDO:79196/ntbt", source="Orphanet:79196", source="ORDO:79196/inclusion"}
xref: Orphanet:79196 {source="MONDO:equivalentTo"}
xref: SCTID:9128006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268517 {source="ORDO:79196/e", source="MONDO:equivalentTo", source="Orphanet:79196"}
is_a: MONDO:0019189 {source="Orphanet:79196", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: exactMatch http://identifiers.org/snomedct/9128006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268517
property_value: exactMatch Orphanet:79196

[Term]
id: MONDO:0019242
name: inborn disorder of branched-chain amino acid metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: consider parent for non-inborn form
subset: ordo_group_of_disorders {source="Orphanet:79197"}
synonym: "branched chain amino acid metabolism disorder" RELATED []
synonym: "disorder of branched chain amino acid metabolism" RELATED []
synonym: "disorder of branched-chain amino acid metabolism" EXACT [Orphanet:79197]
synonym: "inborn branched-chain amino acid metabolic process disorder" EXACT []
synonym: "inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of branched-chain amino acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD10:E71.0 {source="ORDO:79197/btnt", source="MONDO:superClassOf", source="Orphanet:79197", source="ORDO:79197/specific"}
xref: ICD10:E71.1 {source="ORDO:79197/btnt", source="Orphanet:79197", source="ORDO:79197/specific"}
xref: ICD10:E71.2 {source="ORDO:79197/btnt", source="Orphanet:79197", source="ORDO:79197/specific"}
xref: Orphanet:79197 {source="MONDO:equivalentTo"}
xref: SCTID:116020001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342712 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:79197/e", source="Orphanet:79197"}
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder
property_value: exactMatch http://identifiers.org/snomedct/116020001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342712
property_value: exactMatch Orphanet:79197

[Term]
id: MONDO:0019243
name: inborn disorder of energy metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79200"}
synonym: "disorder of energy metabolism" RELATED [Orphanet:79200]
synonym: "inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn generation of precursor metabolites and energy disorder" EXACT []
synonym: "rare inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of generation of precursor metabolites and energy" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:79200 {source="MONDO:equivalentTo"}
xref: UMLS:CN227604 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79200"} ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227604
property_value: exactMatch Orphanet:79200

[Term]
id: MONDO:0019244
name: obsolete glycogen storage disease
is_obsolete: true
replaced_by: MONDO:0002412

[Term]
id: MONDO:0019245
name: lysosomal lipid storage disorder
def: "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." [https://en.wikipedia.org/wiki/Lipid_storage_disorder, PMID:21502308]
subset: ordo_group_of_disorders {source="Orphanet:79204"}
synonym: "inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn lipid storage disorder" EXACT [CSP2005:1849-5707, DOID:9455]
synonym: "lipid storage disease" EXACT [DOID:9455]
synonym: "lipidoses" RELATED []
synonym: "lipidosis" RELATED []
synonym: "lipoid storage diseas" EXACT [DOID:9455]
synonym: "lipoid storage disease" EXACT []
synonym: "lipoid storage disorder" EXACT []
synonym: "lipoidoses" RELATED []
synonym: "lipoidosis" RELATED [DOID:9455]
synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of lipid storage" RELATED [MONDO:patterns/inborn_metabolic]
xref: DOID:9455 {source="MONDO:equivalentTo"}
xref: ICD10:E75.5 {source="Orphanet:79204", source="ORDO:79204/attributed", source="ORDO:79204/ntbt"}
xref: ICD10:E75.6 {source="Orphanet:79204", source="DOID:9455", source="ORDO:79204/attributed", source="ORDO:79204/ntbt"}
xref: ICD9:272.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:9455"}
xref: ICD9:272.8 {source="DOID:9455"}
xref: MESH:D008064 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:9455"}
xref: Orphanet:79204 {source="MONDO:equivalentTo"}
xref: SCTID:10741005 {source="MONDO:equivalentTo", source="DOID:9455"}
xref: UMLS:CN205834 {source="MONDO:equivalentTo"}
is_a: MONDO:0002525 {source="MONDO:Redundant"} ! inherited lipid metabolism disorder
is_a: MONDO:0002561 {source="DOID:9455", source="Orphanet:79204/inferred", source="linkedlifedata"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0019255 {source="Orphanet:79204"} ! sphingolipidosis
property_value: closeMatch http://identifiers.org/snomedct/11455007
property_value: closeMatch http://identifiers.org/snomedct/154744007
property_value: closeMatch http://identifiers.org/snomedct/190792005
property_value: closeMatch http://identifiers.org/snomedct/190797004
property_value: closeMatch http://identifiers.org/snomedct/190798009
property_value: closeMatch http://identifiers.org/snomedct/190805007
property_value: closeMatch http://identifiers.org/snomedct/267437005
property_value: closeMatch http://identifiers.org/snomedct/267438000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023794
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029591
property_value: exactMatch DOID:9455
property_value: exactMatch http://identifiers.org/mesh/D008064
property_value: exactMatch http://identifiers.org/snomedct/10741005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205834
property_value: exactMatch Orphanet:79204

[Term]
id: MONDO:0019246
name: inborn disorder of lysosomal amino acid transport
subset: ordo_group_of_disorders {source="Orphanet:79207"}
synonym: "disorder of lysosomal amino acid transport" RELATED [Orphanet:79207]
xref: Orphanet:79207 {source="MONDO:equivalentTo"}
xref: UMLS:CN227605 {source="MONDO:equivalentTo"}
is_a: MONDO:0002561 {source="Orphanet:79207"} ! lysosomal storage disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227605
property_value: exactMatch Orphanet:79207

[Term]
id: MONDO:0019247
name: obsolete combined hyperlipidemia (including acquired and inherited)
is_obsolete: true
replaced_by: MONDO:0001807

[Term]
id: MONDO:0019248
name: mucolipidosis
def: "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." [NCIT:C61267]
subset: ordo_group_of_disorders {source="Orphanet:79212"}
xref: DC:0000289 {source="MONDO:equivalentTo"}
xref: MESH:D009081 {source="MONDO:equivalentTo", source="ORDO:79212/e", source="Orphanet:79212"}
xref: NCIT:C61267 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:79212 {source="MONDO:equivalentTo"}
xref: SCTID:70528007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0026697 {source="MONDO:equivalentTo", source="ORDO:79212/e", source="Orphanet:79212", source="NCIT:C61267"}
is_a: MONDO:0015327 {source="Orphanet:79212"} ! developmental anomaly of metabolic origin
is_a: MONDO:0017731 {source="Orphanet:79212"} ! glycoproteinosis
property_value: exactMatch http://identifiers.org/mesh/D009081
property_value: exactMatch http://identifiers.org/snomedct/70528007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026697
property_value: exactMatch NCIT:C61267
property_value: exactMatch Orphanet:79212

[Term]
id: MONDO:0019249
name: mucopolysaccharidosis
def: "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." [NCIT:C61259]
subset: gard_rare {source="GARD:0007065"}
subset: ordo_group_of_disorders {source="Orphanet:79213"}
synonym: "MPS" RELATED [GARD:0007065]
synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014]
synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259]
xref: COHD:433446 {source="MONDO:equivalentTo"}
xref: DOID:12798 {source="MONDO:equivalentTo"}
xref: GARD:0007065 {source="MONDO:equivalentTo"}
xref: ICD10:E76.0 {source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"}
xref: ICD10:E76.1 {source="ORDO:79213/btnt", source="MONDO:superClassOf", source="ORDO:79213/specific", source="Orphanet:79213"}
xref: ICD10:E76.2 {source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"}
xref: ICD10:E76.3 {source="DOID:12798", source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"}
xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028093 {source="ORDO:79213/e", source="Orphanet:79213"}
xref: MESH:D009083 {source="DOID:12798", source="MONDO:equivalentTo", source="ORDO:79213/e", source="MONDO:ontobio", source="Orphanet:79213"}
xref: NCIT:C61259 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:607014 {source="MONDO:equivalentTo"}
xref: Orphanet:79213 {source="DOID:12798", source="MONDO:equivalentTo"}
xref: SCTID:11380006 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0026703 {source="NCIT:C61259", source="DOID:12798", source="MONDO:equivalentTo", source="ORDO:79213/e", source="Orphanet:79213"}
is_a: MONDO:0002561 {source="DOID:12798", source="MESH:D009083", source="NCIT:C61259", source="Orphanet:79213", source="linkedlifedata"} ! lysosomal storage disease
is_a: MONDO:0015327 {source="Orphanet:79213"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019214 {source="MESH:D009083", source="NCIT:C61259"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0020222 {source="Orphanet:79213"} ! rare disease with glaucoma as a major feature
property_value: closeMatch http://identifiers.org/snomedct/190936000
property_value: closeMatch http://identifiers.org/snomedct/190942001
property_value: closeMatch http://identifiers.org/snomedct/267452003
property_value: exactMatch DOID:12798
property_value: exactMatch http://identifiers.org/meddra/10028093
property_value: exactMatch http://identifiers.org/mesh/D009083
property_value: exactMatch http://identifiers.org/snomedct/11380006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026703
property_value: exactMatch NCIT:C61259
property_value: exactMatch Orphanet:79213
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis xsd:anyURI {source="GARD:0007065"}

[Term]
id: MONDO:0019250
name: inborn disorder of biogenic amine metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:79214"}
synonym: "disorder of biogenic amine metabolism and transport" RELATED [Orphanet:79214]
xref: Orphanet:79214 {source="MONDO:equivalentTo"}
xref: UMLS:CN227606 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="Orphanet:79214"} ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227606
property_value: exactMatch Orphanet:79214

[Term]
id: MONDO:0019251
name: oligosaccharidosis
subset: ordo_group_of_disorders {source="Orphanet:79215"}
xref: ICD10:E77.1 {source="Orphanet:79215", source="ORDO:79215/attributed", source="ORDO:79215/ntbt"}
xref: Orphanet:79215 {source="MONDO:equivalentTo"}
is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin
is_a: MONDO:0017731 {source="Orphanet:79215"} ! glycoproteinosis
is_a: MONDO:0019214 ! inborn carbohydrate metabolic disorder
property_value: exactMatch Orphanet:79215

[Term]
id: MONDO:0019252
name: other metabolic disease with skin involvement
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79217"}
xref: Orphanet:79217 {source="MONDO:equivalentTo"}
xref: UMLS:CN205838 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019301 {source="Orphanet:79217"} ! metabolic disease with skin involvement
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205838
property_value: exactMatch Orphanet:79217

[Term]
id: MONDO:0019253
name: metabolic disease involving other neurotransmitter deficiency
subset: ordo_group_of_disorders {source="Orphanet:79219"}
xref: Orphanet:79219 {source="MONDO:equivalentTo"}
xref: UMLS:CN205839 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016404 {source="Orphanet:79219"} ! metabolic neurotransmission anomaly with epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205839
property_value: exactMatch Orphanet:79219

[Term]
id: MONDO:0019254
name: inborn disorder of purine or pyrimidine metabolism
subset: ordo_group_of_disorders {source="Orphanet:79224"}
synonym: "disorder of purine or pyrimidine metabolism" RELATED [Orphanet:79224]
synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653]
synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914]
synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653]
xref: DOID:653 {source="MONDO:equivalentTo"}
xref: ICD10:E79.0 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="Orphanet:79224"}
xref: ICD10:E79.1 {source="ORDO:79224/btnt", source="MONDO:superClassOf", source="ORDO:79224/specific", source="Orphanet:79224"}
xref: ICD10:E79.8 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="DOID:653", source="Orphanet:79224"}
xref: ICD10:E79.9 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="Orphanet:79224"}
xref: ICD9:277.2 {source="DOID:653"}
xref: MedDRA:10037546 {source="ORDO:79224/e", source="Orphanet:79224"}
xref: MESH:D011686 {source="MONDO:equivalentTo", source="ORDO:79224/e", source="MONDO:ontobio", source="Orphanet:79224"}
xref: Orphanet:79224 {source="MONDO:equivalentTo"}
xref: UMLS:C0034139 {source="MONDO:equivalentTo", source="ORDO:79224/e", source="Orphanet:79224"}
is_a: MONDO:0019052 {source="DOID:653", source="MESH:D011686", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:79224"} ! inborn errors of metabolism
property_value: closeMatch http://identifiers.org/snomedct/190917005
property_value: closeMatch http://identifiers.org/snomedct/190922005
property_value: closeMatch http://identifiers.org/snomedct/191109006
property_value: closeMatch http://identifiers.org/snomedct/267450006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029595
property_value: exactMatch DOID:653
property_value: exactMatch http://identifiers.org/meddra/10037546
property_value: exactMatch http://identifiers.org/mesh/D011686
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034139
property_value: exactMatch Orphanet:79224

[Term]
id: MONDO:0019255
name: sphingolipidosis
def: "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." [NCIT:P378, PMID:21502308]
subset: gard_rare {source="GARD:0007672"}
subset: ordo_group_of_disorders {source="Orphanet:79225"}
synonym: "sphingolipidoses" EXACT [DOID:1927]
synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [DOID:1927]
xref: DOID:1927 {source="MONDO:equivalentTo"}
xref: GARD:0007672 {source="MONDO:equivalentTo"}
xref: ICD10:E75.0 {source="MONDO:superClassOf", source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"}
xref: ICD10:E75.1 {source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"}
xref: ICD10:E75.2 {source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"}
xref: ICD10:E75.3 {source="DOID:1927", source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"}
xref: MESH:D013106 {source="DOID:1927", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:79225/e", source="Orphanet:79225"}
xref: NCIT:C117254 {source="DOID:1927", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:79225 {source="MONDO:equivalentTo"}
xref: SCTID:238028008 {source="DOID:1927", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0037899 {source="DOID:1927", source="NCIT:C117254", source="MONDO:equivalentTo", source="ORDO:79225/e", source="Orphanet:79225"}
is_a: MONDO:0019245 {source="DOID:1927", source="MESH:D013106", source="MONDO:Redundant", source="PMID:21502308"} ! lysosomal lipid storage disorder
property_value: exactMatch DOID:1927
property_value: exactMatch http://identifiers.org/mesh/D013106
property_value: exactMatch http://identifiers.org/snomedct/238028008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037899
property_value: exactMatch NCIT:C117254
property_value: exactMatch Orphanet:79225
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis xsd:anyURI {source="GARD:0007672"}

[Term]
id: MONDO:0019256
name: sterol metabolism disorder
def: "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79226"}
synonym: "inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sterol metabolic process disorder" EXACT []
synonym: "rare inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sterol metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: Orphanet:79226 {source="MONDO:equivalentTo"}
xref: UMLS:CN227607 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:79226"} ! inherited lipid metabolism disorder
is_a: MONDO:0045012 ! steroid metabolism disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227607
property_value: exactMatch Orphanet:79226

[Term]
id: MONDO:0019257
name: hemochromatosis type 2
def: "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:79230]
subset: ordo_disease {source="Orphanet:79230"}
synonym: "hemochromatosis juvenile" RELATED [GARD:0010092]
synonym: "HFE2" EXACT [DOID:0111034]
synonym: "iron overload disease juvenile" RELATED [GARD:0010092]
synonym: "JHH" EXACT [DOID:0111034]
synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230]
xref: DOID:0111034 {source="MONDO:equivalentTo"}
xref: GARD:0010092 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E83.1 {source="MONDO:subClassOf", source="ORDO:79230/attributed", source="ORDO:79230/ntbt", source="Orphanet:79230", source="DOID:0111034"}
xref: MESH:C537247 {source="MONDO:equivalentTo", source="ORDO:79230/e", source="Orphanet:79230", source="DOID:0111034"}
xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"}
xref: SCTID:50855007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.27"}
xref: UMLS:CN205842 {source="MONDO:equivalentTo"}
is_a: MONDO:0006507 {source="MONDOLEX:0019257", source="Orphanet:79230"} ! hereditary hemochromatosis
relationship: has_modifier MONDO:0021136 {source="MONDO:0016363"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268060
property_value: exactMatch DOID:0111034
property_value: exactMatch http://identifiers.org/mesh/C537247
property_value: exactMatch http://identifiers.org/snomedct/50855007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205842
property_value: exactMatch Orphanet:79230

[Term]
id: MONDO:0019258
name: mild phenylketonuria
def: "Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." [Orphanet:79253]
subset: gard_rare {source="GARD:0010324"}
subset: ordo_clinical_subtype {source="Orphanet:79253"}
synonym: "mild PKU" EXACT [Orphanet:79253]
synonym: "mPKU" EXACT [Orphanet:79253]
synonym: "variant phenylketonuria" EXACT [Orphanet:79253]
synonym: "variant PKU" EXACT [Orphanet:79253]
xref: GARD:0010324 {source="MONDO:equivalentTo"}
xref: ICD10:E70.1 {source="ORDO:79253/attributed", source="ORDO:79253/ntbt", source="Orphanet:79253"}
xref: Orphanet:79253 {source="MONDO:equivalentTo"}
is_a: MONDO:0009861 {source="Orphanet:79253"} ! phenylketonuria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0543528
property_value: exactMatch Orphanet:79253
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria xsd:anyURI {source="GARD:0010324"}

[Term]
id: MONDO:0019259
name: classic phenylketonuria
def: "Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." [Orphanet:79254]
subset: ordo_clinical_subtype {source="Orphanet:79254"}
synonym: "classic PKU" EXACT [Orphanet:79254]
xref: ICD10:E70.0 {source="ORDO:79254/e", source="Orphanet:79254", source="ORDO:79254/specific"}
xref: MedDRA:10034875 {source="ORDO:79254/e", source="Orphanet:79254"}
xref: Orphanet:79254 {source="MONDO:equivalentTo"}
is_a: MONDO:0009861 {source="Orphanet:79254"} ! phenylketonuria
property_value: exactMatch http://identifiers.org/meddra/10034875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751434
property_value: exactMatch Orphanet:79254

[Term]
id: MONDO:0019260
name: adult neuronal ceroid lipofuscinosis
def: "adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." [Orphanet:79262]
subset: gard_rare {source="GARD:0010973"}
subset: ordo_disease {source="Orphanet:79262"}
synonym: "adult NCL" EXACT [Orphanet:79262]
synonym: "ANCL" EXACT [Orphanet:79262]
synonym: "CLN4 disease, adult autosomal dominant" RELATED [GARD:0010973]
synonym: "Kuf's disease" RELATED [GARD:0010973]
synonym: "Kufs disease" EXACT [Orphanet:79262]
synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973]
synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:0010973 {source="MONDO:equivalentTo"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:79262/attributed", source="ORDO:79262/ntbt", source="Orphanet:79262"}
xref: Orphanet:79262 {source="MONDO:equivalentTo"}
xref: SCTID:62009002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0022797 {source="ORDO:79262/e", source="MONDO:equivalentTo", source="Orphanet:79262", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205864 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016295 {source="MONDO:Redundant", source="Orphanet:79262", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020074 {source="Orphanet:79262"} ! progressive myoclonic epilepsy
is_a: MONDO:0020143 {source="Orphanet:79262"} ! cerebral lipidosis with dementia
property_value: exactMatch http://identifiers.org/mesh/C537950
property_value: exactMatch http://identifiers.org/snomedct/62009002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022797
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205864
property_value: exactMatch Orphanet:79262
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis xsd:anyURI {source="GARD:0010973"}

[Term]
id: MONDO:0019261
name: infantile neuronal ceroid lipofuscinosis
def: "Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." [Orphanet:79263]
subset: ordo_disease {source="Orphanet:79263"}
synonym: "Hagberg-Santavuori disease" EXACT [Orphanet:79263]
synonym: "INCL" EXACT [Orphanet:79263]
synonym: "infantile NCL" EXACT [Orphanet:79263]
synonym: "Santavuori disease" EXACT [Orphanet:79263]
synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263]
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:79263/attributed", source="ORDO:79263/ntbt", source="Orphanet:79263"}
xref: Orphanet:79263 {source="MONDO:equivalentTo"}
xref: SCTID:58258004 {source="MONDO:kboom-pr-0.92/0.83/0.18", source="MONDO:equivalentTo"}
is_a: MONDO:0016295 {source="Orphanet:79263", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020071 ! infantile epilepsy syndrome
is_a: MONDO:0020074 {source="Orphanet:79263"} ! progressive myoclonic epilepsy
is_a: MONDO:0020143 {source="Orphanet:79263"} ! cerebral lipidosis with dementia
property_value: exactMatch http://identifiers.org/mesh/C537948
property_value: exactMatch http://identifiers.org/snomedct/58258004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268281
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931673
property_value: exactMatch Orphanet:79263

[Term]
id: MONDO:0019262
name: juvenile neuronal ceroid lipofuscinosis
def: "Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." [Orphanet:79264]
comment: Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs
subset: ordo_disease {source="Orphanet:79264"}
synonym: "batten disease" EXACT [MONDO:0000439, Orphanet:79264]
synonym: "JNCL" EXACT [Orphanet:79264]
synonym: "juvenile NCL" EXACT [Orphanet:79264]
synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756]
synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264]
xref: DOID:0050756 {source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: ICD10:E75.4 {source="MONDO:subClassOf", source="ORDO:79264/attributed", source="ORDO:79264/ntbt", source="Orphanet:79264"}
xref: MedDRA:10052073 {source="ORDO:79264/e", source="Orphanet:79264"}
xref: Orphanet:79264 {source="MONDO:equivalentTo"}
xref: SCTID:61663001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.42"}
is_a: MONDO:0016295 {source="DOID:0050756", source="Orphanet:79264", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020074 {source="Orphanet:79264"} ! progressive myoclonic epilepsy
is_a: MONDO:0020143 {source="Orphanet:79264", source="linkedlifedata"} ! cerebral lipidosis with dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751383
property_value: exactMatch DOID:0050756
property_value: exactMatch http://identifiers.org/meddra/10052073
property_value: exactMatch http://identifiers.org/snomedct/61663001
property_value: exactMatch Orphanet:79264

[Term]
id: MONDO:0019263
name: autosomal erythropoietic protoporphyria
def: "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." [Orphanet:79278]
subset: ordo_disease {source="Orphanet:79278"}
synonym: "EPP" EXACT [Orphanet:79278]
xref: ICD10:E80.0 {source="ORDO:79278/inclusion", source="ORDO:79278/ntbt", source="Orphanet:79278"}
xref: MedDRA:10015289 {source="ORDO:79278/e", source="Orphanet:79278"}
xref: Orphanet:79278 {source="MONDO:equivalentTo"}
is_a: MONDO:0001676 {source="MONDO:cjm"} ! erythropoietic protoporphyria
property_value: exactMatch http://identifiers.org/meddra/10015289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162568
property_value: exactMatch Orphanet:79278

[Term]
id: MONDO:0019264
name: alpha-N-acetylgalactosaminidase deficiency type 3
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." [Orphanet:79281]
subset: ordo_clinical_subtype {source="Orphanet:79281"}
synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281]
synonym: "Schindler disease type 3" EXACT [Orphanet:79281]
xref: ICD10:E77.1 {source="Orphanet:79281", source="ORDO:79281/attributed", source="ORDO:79281/ntbt"}
xref: Orphanet:79281 {source="MONDO:equivalentTo"}
xref: UMLS:C1836545 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79281", source="MONDO:equivalentTo"}
is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1836545
property_value: exactMatch Orphanet:79281

[Term]
id: MONDO:0019265
name: diazoxide-resistant focal hyperinsulinism
def: "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." [Orphanet:79298]
subset: ordo_group_of_disorders {source="Orphanet:79298"}
synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" EXACT [Orphanet:79298]
xref: ICD10:E16.1 {source="ORDO:79298/attributed", source="ORDO:79298/ntbt", source="Orphanet:79298"}
xref: Orphanet:79298 {source="MONDO:equivalentTo"}
is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulinism
property_value: exactMatch Orphanet:79298

[Term]
id: MONDO:0019266
name: SAPHO syndrome
def: "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." [Orphanet:793]
subset: gard_rare {source="GARD:0007606"}
subset: ordo_disease {source="Orphanet:793"}
synonym: "acquired hyperostosis syndrome" RELATED [GARD:0007606]
synonym: "PPHS" EXACT [NCIT:C119049]
synonym: "Pustulo-psoriatic hyperostotic Spondyloarthritis" EXACT [NCIT:C119049]
synonym: "synovitis acne pustulosis hyperostosis osteitis" RELATED [GARD:0007606]
synonym: "synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis" RELATED [GARD:0007606]
synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [DOID:13677]
synonym: "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome" EXACT [NCIT:C119049]
synonym: "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" EXACT [Orphanet:793]
xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"}
xref: EFO:1001164 {source="MONDO:equivalentTo"}
xref: GARD:0007606 {source="MONDO:equivalentTo"}
xref: ICD10:M86.3 {source="ORDO:793/ntbt", source="Orphanet:793"}
xref: ICD9:706.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10051316 {source="EFO:1001164", source="ORDO:793/e", source="Orphanet:793"}
xref: MESH:D020083 {source="EFO:1001164", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13677"}
xref: NCIT:C119049 {source="EFO:1001164", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13677"}
xref: Orphanet:793 {source="MONDO:equivalentTo"}
xref: SCTID:60684003 {source="EFO:1001164", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/13.11", source="DOID:13677"}
xref: UMLS:C0263859 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:793", source="DOID:13677"}
is_a: MONDO:0017370 {source="Orphanet:793"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017954 {source="Orphanet:793"} ! pyogenic autoinflammatory syndrome
property_value: closeMatch http://identifiers.org/snomedct/203140009
property_value: closeMatch NCIT:C84530
property_value: exactMatch DOID:13677
property_value: exactMatch http://identifiers.org/meddra/10051316
property_value: exactMatch http://identifiers.org/mesh/D020083
property_value: exactMatch http://identifiers.org/snomedct/60684003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263859
property_value: exactMatch NCIT:C119049
property_value: exactMatch Orphanet:793
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome xsd:anyURI {source="GARD:0007606"}

[Term]
id: MONDO:0019267
name: vitamin B12-unresponsive methylmalonic acidemia type mut-
def: "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:79312]
subset: ordo_clinical_subtype {source="Orphanet:79312"}
synonym: "partial deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:79312]
synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut-" EXACT [Orphanet:79312]
xref: ICD10:E71.1 {source="ORDO:79312/attributed", source="ORDO:79312/ntbt", source="Orphanet:79312"}
xref: Orphanet:79312 {source="MONDO:equivalentTo"}
xref: SCTID:237946002 {source="MONDO:equivalentTo"}
xref: UMLS:CN205894 {source="MONDO:equivalentTo"}
is_a: MONDO:0009612 {source="Orphanet:79312"} ! methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
property_value: exactMatch http://identifiers.org/snomedct/237946002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205894
property_value: exactMatch Orphanet:79312

[Term]
id: MONDO:0019268
name: epidermal disease
def: "A skin disease that involves the epidermis." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79353"}
synonym: "epidermal disease" RELATED [Orphanet:79353]
synonym: "rare epidermal disease" EXACT [Orphanet:79353]
xref: Orphanet:79353 {source="MONDO:equivalentTo"}
xref: UMLS:CN205920 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:79353"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205920
property_value: exactMatch Orphanet:79353
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019269
name: ichthyosis (disease)
def: "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe." [NCIT:C84776]
subset: ordo_group_of_disorders {source="Orphanet:79354"}
synonym: "ichthyoses" EXACT [DOID:1697]
synonym: "ichthyosis" EXACT [MONDO:ambiguous]
synonym: "non-syndromic ichthyosis" RELATED [DOID:1697]
xref: DOID:1697 {source="MONDO:equivalentTo"}
xref: HP:0008064 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10021198 {source="ORDO:79354/e", source="Orphanet:79354"}
xref: MESH:D007057 {source="MONDO:equivalentTo", source="DOID:1697", source="ORDO:79354/e", source="MONDO:ontobio", source="Orphanet:79354"}
xref: NCIT:C84776 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:79354 {source="MONDO:equivalentTo", source="DOID:1697"}
xref: UMLS:C0020757 {source="NCIT:C84776", source="MONDO:equivalentTo", source="ORDO:79354/e", source="Orphanet:79354"}
is_a: MONDO:0019268 {source="Orphanet:79354"} ! epidermal disease
property_value: exactMatch DOID:1697
property_value: exactMatch http://identifiers.org/meddra/10021198
property_value: exactMatch http://identifiers.org/mesh/D007057
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020758
property_value: exactMatch NCIT:C84776
property_value: exactMatch Orphanet:79354

[Term]
id: MONDO:0019270
name: erythrokeratoderma
subset: ordo_group_of_disorders {source="Orphanet:79355"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10015280 {source="ORDO:79355/e", source="Orphanet:79355"}
xref: Orphanet:79355 {source="MONDO:equivalentTo"}
xref: SCTID:254215005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease
property_value: exactMatch http://identifiers.org/meddra/10015280
property_value: exactMatch http://identifiers.org/snomedct/254215005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432330
property_value: exactMatch Orphanet:79355

[Term]
id: MONDO:0019271
name: acrokeratoderma
subset: ordo_group_of_disorders {source="Orphanet:79356"}
xref: ICD10:Q82.8 {source="ORDO:79356/ntbt", source="Orphanet:79356"}
xref: Orphanet:79356 {source="MONDO:equivalentTo"}
is_a: MONDO:0019268 {source="Orphanet:79356"} ! epidermal disease
property_value: exactMatch Orphanet:79356

[Term]
id: MONDO:0019272
name: hereditary palmoplantar keratoderma
def: "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:79357"}
synonym: "hereditary keratosis palmoplantaris" EXACT [Orphanet:79357]
synonym: "hereditary palmoplantar hyperkeratosis" EXACT [Orphanet:79357]
synonym: "hereditary palmoplantar keratosis" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary PPK" EXACT [Orphanet:79357]
xref: ICD10:Q82.8 {source="ORDO:79357/inclusion", source="ORDO:79357/ntbt", source="Orphanet:79357"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79357 {source="MONDO:equivalentTo"}
xref: SCTID:239066003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0006590 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0019272", source="linkedlifedata"} ! palmoplantar keratosis
is_a: MONDO:0019268 {source="Orphanet:79357"} ! epidermal disease
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0006590 ! palmoplantar keratosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/239066003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406757
property_value: exactMatch Orphanet:79357

[Term]
id: MONDO:0019273
name: obsolete porokeratosis
is_obsolete: true
replaced_by: MONDO:0006602

[Term]
id: MONDO:0019274
name: other epidermal disorder
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79359"}
xref: Orphanet:79359 {source="MONDO:equivalentTo"}
xref: UMLS:CN227609 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019268 {source="Orphanet:79359"} ! epidermal disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227609
property_value: exactMatch Orphanet:79359

[Term]
id: MONDO:0019275
name: other genetic epidermal disease
comment: Editor note: consider merging
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79360"}
xref: Orphanet:79360 {source="MONDO:equivalentTo"}
xref: UMLS:CN205922 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015946"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205922
property_value: exactMatch Orphanet:79360

[Term]
id: MONDO:0019276
name: inherited epidermolysis bullosa
def: "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." [Orphanet:79361]
subset: ordo_group_of_disorders {source="Orphanet:79361"}
synonym: "epidermolysis bullosa hereditaria" EXACT [Orphanet:79361]
synonym: "hereditary epidermolysis bullosa" EXACT [MONDO:patterns/hereditary, Orphanet:79361]
xref: ICD10:Q81.0 {source="MONDO:superClassOf", source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"}
xref: ICD10:Q81.1 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"}
xref: ICD10:Q81.2 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"}
xref: ICD10:Q81.8 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"}
xref: ICD10:Q81.9 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79361 {source="MONDO:equivalentTo"}
xref: SCTID:402781004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.82"}
is_a: MONDO:0006541 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! epidermolysis bullosa
is_a: MONDO:0019268 {source="Orphanet:79361"} ! epidermal disease
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0006541 ! epidermolysis bullosa
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/402781004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274224
property_value: exactMatch Orphanet:79361

[Term]
id: MONDO:0019277
name: epidermal appendage anomaly
subset: ordo_group_of_disorders {source="Orphanet:79362"}
xref: Orphanet:79362 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:79362"} ! skin disease
is_a: MONDO:0024481 ! skin appendage disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: exactMatch Orphanet:79362

[Term]
id: MONDO:0019278
name: hair anomaly
subset: ordo_group_of_disorders {source="Orphanet:79363"}
xref: Orphanet:79363 {source="MONDO:equivalentTo"}
is_a: MONDO:0002917 ! disease of pilosebaceous unit
is_a: MONDO:0019277 {source="Orphanet:79363"} ! epidermal appendage anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265991
property_value: exactMatch Orphanet:79363

[Term]
id: MONDO:0019279
name: obsolete alopecia
is_obsolete: true
replaced_by: MONDO:0004907

[Term]
id: MONDO:0019280
name: hypertrichosis (disease)
def: "Excessive hair growth anywhere on the body." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:79365"}
synonym: "hypertrichosis" EXACT [MONDO:ambiguous]
xref: DOID:420 {source="MONDO:equivalentTo"}
xref: HP:0000998 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:L68 {source="DOID:420"}
xref: ICD10:L68.3 {source="DOID:420"}
xref: ICD10:L68.9 {source="DOID:420"}
xref: MedDRA:10020864 {source="ORDO:79365/e", source="Orphanet:79365"}
xref: MESH:D006983 {source="MONDO:equivalentTo", source="ORDO:79365/e", source="MONDO:ontobio", source="DOID:420", source="Orphanet:79365"}
xref: Orphanet:79365 {source="MONDO:equivalentTo", source="DOID:420"}
xref: SCTID:29966009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:420"}
xref: UMLS:C0020555 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="ORDO:79365/e", source="DOID:420", source="Orphanet:79365"}
is_a: MONDO:0021027 {source="Orphanet:79365"} ! genetic hair anomaly
property_value: closeMatch http://identifiers.org/snomedct/156409007
property_value: closeMatch http://identifiers.org/snomedct/201164001
property_value: closeMatch http://identifiers.org/snomedct/201165000
property_value: closeMatch http://identifiers.org/snomedct/271607001
property_value: closeMatch http://identifiers.org/snomedct/40090008
property_value: exactMatch DOID:420
property_value: exactMatch http://identifiers.org/meddra/10020864
property_value: exactMatch http://identifiers.org/mesh/D006983
property_value: exactMatch http://identifiers.org/snomedct/29966009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020555
property_value: exactMatch NCIT:C79597
property_value: exactMatch Orphanet:79365

[Term]
id: MONDO:0019281
name: isolated genetic hair shaft abnormality
subset: ordo_group_of_disorders {source="Orphanet:79366"}
synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366]
xref: Orphanet:79366 {source="MONDO:equivalentTo"}
is_a: MONDO:0021027 {source="MONDO:Redundant", source="Orphanet:79366"} ! genetic hair anomaly
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:79366

[Term]
id: MONDO:0019282
name: syndromic hair shaft abnormality
subset: ordo_group_of_disorders {source="Orphanet:79367"}
xref: Orphanet:79367 {source="MONDO:equivalentTo"}
xref: UMLS:CN227611 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0021027 {source="Orphanet:79367"} ! genetic hair anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227611
property_value: exactMatch Orphanet:79367

[Term]
id: MONDO:0019283
name: nail anomaly
def: "A epidermal appendage anomaly that involves the nail." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79368"}
synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern]
synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MedDRA:10028684 {source="ORDO:79368/e", source="Orphanet:79368"}
xref: Orphanet:79368 {source="MONDO:equivalentTo"}
is_a: MONDO:0002884 ! nail disease
is_a: MONDO:0019277 {source="MONDO:Redundant", source="Orphanet:79368"} ! epidermal appendage anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265997
property_value: exactMatch http://identifiers.org/meddra/10028684
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0853087
property_value: exactMatch Orphanet:79368

[Term]
id: MONDO:0019284
name: inherited isolated nail anomaly
def: "A nail anomaly that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:79369"}
synonym: "isolated nail anomaly" RELATED [Orphanet:79369]
synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073]
synonym: "nonsyndromic nail anomaly" EXACT [MONDO:patterns/isolated]
xref: DC:0000310 {source="MONDO:equivalentTo"}
xref: OMIMPS:161050 {source="MONDO:equivalentTo", source="DC:0000310"}
xref: Orphanet:79369 {source="MONDO:equivalentTo"}
is_a: MONDO:0021028 {source="Orphanet:79369"} ! genetic nail anomaly
intersection_of: MONDO:0002884 ! nail disease
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:79369

[Term]
id: MONDO:0019285
name: syndromic nail anomaly
def: "A nail anomaly that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:79370"}
synonym: "syndrome associated with nail anomaly" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with nail anomaly" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic nail anomaly" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:79370 {source="MONDO:equivalentTo"}
xref: UMLS:CN227613 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0021028 {source="Orphanet:79370"} ! genetic nail anomaly
intersection_of: MONDO:0019283 ! nail anomaly
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227613
property_value: exactMatch Orphanet:79370

[Term]
id: MONDO:0019286
name: sebaceous gland anomaly
def: "A epidermal appendage anomaly that involves the sebaceous gland." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79372"}
synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern]
synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location]
xref: Orphanet:79372 {source="MONDO:equivalentTo"}
is_a: MONDO:0006607 ! sebaceous gland disease
is_a: MONDO:0019277 {source="MONDO:Redundant", source="Orphanet:79372"} ! epidermal appendage anomaly
property_value: exactMatch Orphanet:79372

[Term]
id: MONDO:0019287
name: ectodermal dysplasia syndrome
def: "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." [Orphanet:79373]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:79373"}
synonym: "congenital ectodermal defect" EXACT [DOID:2121]
synonym: "ectodermal dysplasia" EXACT [Orphanet:79373]
synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100]
xref: COHD:134757 {source="MONDO:equivalentTo"}
xref: DOID:2121 {source="MONDO:equivalentTo"}
xref: GARD:0006317 {source="MONDO:equivalentTo"}
xref: ICD9:757.31 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10010452 {source="ORDO:79373/e", source="Orphanet:79373"}
xref: MESH:D004476 {source="MONDO:equivalentTo", source="ORDO:79373/e", source="Orphanet:79373"}
xref: NCIT:C84683 {source="MONDO:kboom-pr-1.00/0.91/28.28", source="MONDO:equivalentTo"}
xref: OMIMPS:305100 {source="DOID:2121", source="MONDO:equivalentTo", source="DC:0000128"}
xref: Orphanet:79373 {source="MONDO:equivalentTo"}
xref: SCTID:8654005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013575 {source="GARD:0006317", source="MONDO:equivalentTo", source="ORDO:79373/e", source="Orphanet:79373", source="NCIT:C84683"}
is_a: MONDO:0002254 {source="DOID:2121", source="MONDOLEX:0019287", source="NCIT:C84683"} ! syndromic disease
is_a: MONDO:0015331 {source="Orphanet:79373"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0021026 {source="Orphanet:79373"} ! genetic epidermal appendage anomaly
property_value: exactMatch DOID:2121
property_value: exactMatch http://identifiers.org/meddra/10010452
property_value: exactMatch http://identifiers.org/mesh/D004476
property_value: exactMatch http://identifiers.org/snomedct/8654005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013575
property_value: exactMatch NCIT:C84683
property_value: exactMatch Orphanet:79373

[Term]
id: MONDO:0019288
name: skin pigmentation disease
def: "A pigmentation disease that involves the zone of skin." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:79374"}
synonym: "pigmentation anomaly of the skin" EXACT []
synonym: "pigmentation disease" RELATED [DOID:10123]
synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern]
synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10123 {source="MONDO:equivalentTo", source="EFO:1000755"}
xref: EFO:1000755 {source="MONDO:equivalentTo"}
xref: ICD9:709.09 {source="DOID:10123"}
xref: MESH:D010859 {source="MONDO:equivalentTo"}
xref: Orphanet:79374 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="DOID:10123", source="EFO:1000755", source="MESH:D010859", source="MONDO:Redundant"} ! skin disease
is_a: MONDO:0006600 ! pigmentation disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0375489
property_value: exactMatch DOID:10123
property_value: exactMatch http://identifiers.org/mesh/D010859
property_value: exactMatch Orphanet:79374

[Term]
id: MONDO:0019289
name: hyperpigmentation of the skin
subset: ordo_group_of_disorders {source="Orphanet:79375"}
xref: COHD:4172432 {source="MONDO:equivalentTo"}
xref: EFO:0009047 {source="MONDO:equivalentTo"}
xref: HP:0000953 {source="MONDO:otherHierarchy"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79375 {source="MONDO:equivalentTo"}
xref: SCTID:49765009 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
is_a: MONDO:0019288 {source="Orphanet:79375"} ! skin pigmentation disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162834
property_value: exactMatch http://identifiers.org/snomedct/49765009
property_value: exactMatch Orphanet:79375

[Term]
id: MONDO:0019290
name: hypopigmentation of the skin (disease)
def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496]
subset: ordo_group_of_disorders {source="Orphanet:79376"}
synonym: "hypomelanoses" RELATED [MESH:D017496]
synonym: "hypomelanosis" RELATED [MESH:D017496]
synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous]
xref: HP:0001010 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10040868 {source="ORDO:79376/e", source="Orphanet:79376"}
xref: MESH:D017496 {source="MONDO:equivalentTo"}
xref: Orphanet:79376 {source="MONDO:equivalentTo"}
is_a: MONDO:0019288 {source="MESH:D017496", source="Orphanet:79376"} ! skin pigmentation disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162835
property_value: exactMatch http://identifiers.org/meddra/10040868
property_value: exactMatch http://identifiers.org/mesh/D017496
property_value: exactMatch Orphanet:79376

[Term]
id: MONDO:0019291
name: obsolete rare genetic dermis disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79377"}
synonym: "dermis disorder" RELATED [Orphanet:79377]
xref: Orphanet:79377 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227615 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227615
property_value: exactMatch Orphanet:79377
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021154

[Term]
id: MONDO:0019292
name: dermis elastic tissue disorder
subset: ordo_group_of_disorders {source="Orphanet:79378"}
xref: Orphanet:79378 {source="MONDO:equivalentTo"}
xref: UMLS:CN227616 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021154 ! dermis disease
relationship: excluded_subClassOf MONDO:0019291 {source="MONDO:Redundant", source="Orphanet:79378"} ! obsolete rare genetic dermis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227616
property_value: exactMatch Orphanet:79378

[Term]
id: MONDO:0019293
name: skin vascular disease
def: "A disease that involves the superficial vasculature." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79379"}
synonym: "disorder of blood vessels affecting skin" RELATED []
synonym: "skin vascular disorder" EXACT [NCIT:C35254]
synonym: "superficial vasculature disease" EXACT [MONDO:patterns/location]
synonym: "vascular disease of the skin" EXACT []
synonym: "vascular disorder of skin" RELATED []
synonym: "vascular disorders of skin" RELATED []
synonym: "vascular skin disease" EXACT [MONDO:0004814]
synonym: "vasculature skin disease" EXACT [MONDO:patterns/location]
xref: COHD:316501 {source="MONDO:equivalentTo"}
xref: DOID:9540 {source="MONDO:equivalentTo"}
xref: ICD9:709.1 {source="DOID:9540"}
xref: MedDRA:10062171 {source="ORDO:79379/e", source="Orphanet:79379"}
xref: MESH:D017445 {source="MONDO:equivalentTo", source="DOID:9540", source="ORDO:79379/e", source="Orphanet:79379"}
xref: NCIT:C35254 {source="MONDO:equivalentTo", source="DOID:9540"}
xref: Orphanet:79379 {source="MONDO:equivalentTo"}
xref: SCTID:11263005 {source="MONDO:equivalentTo", source="DOID:9540"}
xref: UMLS:C0162819 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:9540", source="ORDO:79379/e", source="Orphanet:79379"}
is_a: MONDO:0005093 {source="DOID:9540", source="MESH:D017445", source="MONDO:Redundant", source="NCIT:C35254", source="linkedlifedata"} ! skin disease
is_a: MONDO:0005385 {source="MONDO:Redundant", source="NCIT:C35254", source="linkedlifedata"} ! vascular disease
relationship: excluded_subClassOf MONDO:0019291 {source="Orphanet:79379"} ! obsolete rare genetic dermis disorder
property_value: closeMatch http://identifiers.org/snomedct/201306008
property_value: closeMatch http://identifiers.org/snomedct/267820009
property_value: exactMatch DOID:9540
property_value: exactMatch http://identifiers.org/meddra/10062171
property_value: exactMatch http://identifiers.org/mesh/D017445
property_value: exactMatch http://identifiers.org/snomedct/11263005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162819
property_value: exactMatch NCIT:C35254
property_value: exactMatch Orphanet:79379

[Term]
id: MONDO:0019294
name: mixed dermis disorder
comment: Editor note: check if genetic
subset: ordo_group_of_disorders {source="Orphanet:79380"}
xref: Orphanet:79380 {source="MONDO:equivalentTo"}
xref: UMLS:CN227617 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021154 {source="Orphanet:79380"} ! dermis disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019291"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227617
property_value: exactMatch Orphanet:79380

[Term]
id: MONDO:0019295
name: obsolete other dermis disorder
is_obsolete: true
consider: MONDO:0021154

[Term]
id: MONDO:0019296
name: subcutaneous tissue disease
def: "A disease involving the superficial fascia." [MONDO:patterns/location_top]
subset: ordo_group_of_disorders {source="Orphanet:79382"}
synonym: "disease of superficial fascia" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of superficial fascia" EXACT []
synonym: "disorder of superficial fascia" EXACT [MONDO:patterns/location_top]
synonym: "disorder of superficial fascia" RELATED [MONDO:patterns/location_top]
synonym: "superficial fascia disease" EXACT [MONDO:patterns/location]
synonym: "superficial fascia disease or disorder" EXACT [MONDO:patterns/location]
xref: Orphanet:79382 {source="MONDO:equivalentTo"}
xref: UMLS:C1290008 {source="ORDO:79382/e", source="MONDO:equivalentTo", source="Orphanet:79382"}
is_a: MONDO:0002051 ! integumentary system disease
relationship: excluded_subClassOf MONDO:0019043 ! obsolete rare genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290008
property_value: exactMatch Orphanet:79382

[Term]
id: MONDO:0019297
name: lymphedema
def: "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." [NCIT:C3207]
subset: ordo_group_of_disorders {source="Orphanet:79383"}
synonym: "lymphatic edema" EXACT [DOID:4977]
synonym: "lymphatic edema (morphologic abnormality)" EXACT [DOID:4977]
synonym: "lymphoedema" EXACT [DOID:4977]
synonym: "lymphoedema NOS" RELATED EXCLUDE [DOID:4977]
xref: COHD:435839 {source="MONDO:equivalentTo"}
xref: DOID:4977 {source="MONDO:equivalentTo"}
xref: GARD:0012563 {source="MONDO:equivalentTo"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10025282 {source="ORDO:79383/e", source="Orphanet:79383"}
xref: MESH:D008209 {source="ORDO:79383/e", source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383"}
xref: NCIT:C3207 {source="MONDO:equivalentTo", source="DOID:4977", source="exact-label-match"}
xref: Orphanet:79383 {source="MONDO:equivalentTo"}
xref: SCTID:234097001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4977"}
xref: UMLS:C0024236 {source="ORDO:79383/e", source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="NCIT:C3207"}
is_a: MONDO:0005833 {source="DOID:4977", source="MESH:D008209"} ! lymphatic system disease
relationship: excluded_subClassOf MONDO:0019043 {source="Orphanet:79383"} ! obsolete rare genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/155485008
property_value: closeMatch http://identifiers.org/snomedct/195486001
property_value: closeMatch http://identifiers.org/snomedct/266334008
property_value: closeMatch http://identifiers.org/snomedct/30213001
property_value: exactMatch DOID:4977
property_value: exactMatch http://identifiers.org/meddra/10025282
property_value: exactMatch http://identifiers.org/mesh/D008209
property_value: exactMatch http://identifiers.org/snomedct/234097001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024236
property_value: exactMatch NCIT:C3207
property_value: exactMatch Orphanet:79383

[Term]
id: MONDO:0019298
name: obsolete rare urticaria
def: "Rare urticaria." []
comment: This class may be obsoleted in future. Note that ORDO classifies this as rare allergic disease, but urticara may be autoimmune
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79384"}
synonym: "rare hives" EXACT [MONDO:patterns/rare]
synonym: "rare urticaria" EXACT [MONDO:patterns/rare]
synonym: "rare urticaria (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:79384 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:79384
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005492
consider: UMLS:C0042109 {source="MONDO:subClassOf", source="Orphanet:79384"}

[Term]
id: MONDO:0019299
name: unclassified genetic skin disorder
comment: Editor note: obsolete this
subset: ordo_group_of_disorders {source="Orphanet:79385"}
xref: Orphanet:79385 {source="MONDO:equivalentTo"}
xref: UMLS:CN205933 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:79385"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205933
property_value: exactMatch Orphanet:79385

[Term]
id: MONDO:0019300
name: obsolete rare skin tumor or hamartoma
subset: ordo_group_of_disorders {source="Orphanet:79386"}
xref: Orphanet:79386 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN205934 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205934
property_value: exactMatch Orphanet:79386
is_obsolete: true

[Term]
id: MONDO:0019301
name: metabolic disease with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:79387"}
xref: Orphanet:79387 {source="MONDO:equivalentTo"}
xref: UMLS:CN205935 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:cjm"} ! metabolic disease
is_a: MONDO:0005093 {source="Orphanet:79387"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205935
property_value: exactMatch Orphanet:79387

[Term]
id: MONDO:0019302
name: mucopolysaccharidosis with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:79388"}
synonym: "MPS with skin involvement" EXACT [Orphanet:79388]
xref: Orphanet:79388 {source="MONDO:equivalentTo"}
is_a: MONDO:0019249 {source="MONDO:cjm"} ! mucopolysaccharidosis
is_a: MONDO:0019301 {source="Orphanet:79388"} ! metabolic disease with skin involvement
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch Orphanet:79388

[Term]
id: MONDO:0019303
name: premature aging syndrome
def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588]
subset: ordo_group_of_disorders {source="Orphanet:79389"}
synonym: "premature aging" RELATED [Orphanet:79389]
xref: MedDRA:10063493 {source="ORDO:79389/e", source="Orphanet:79389"}
xref: MESH:D019588 {source="MONDO:equivalentTo", source="ORDO:79389/e", source="MONDO:ontobio", source="Orphanet:79389"}
xref: Orphanet:79389 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0005093 {source="Orphanet:79389"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10063493
property_value: exactMatch http://identifiers.org/mesh/D019588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0231341
property_value: exactMatch Orphanet:79389

[Term]
id: MONDO:0019304
name: rare photodermatosis
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:79390"}
synonym: "rare skin photosensitivity" EXACT [Orphanet:79390]
xref: Orphanet:79390 {source="MONDO:equivalentTo"}
xref: UMLS:C0920193 {source="Orphanet:79390", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005093 ! skin disease
relationship: excluded_subClassOf MONDO:0019043 ! obsolete rare genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0920193
property_value: exactMatch Orphanet:79390
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019305
name: immune deficiency with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:79391"}
xref: Orphanet:79391 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0005093 {source="Orphanet:79391"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: exactMatch Orphanet:79391

[Term]
id: MONDO:0019306
name: congenital non-bullous ichthyosiform erythroderma
def: "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." [Orphanet:79394]
subset: ordo_disease {source="Orphanet:79394"}
synonym: "alligator skin" EXACT [DOID:1699]
synonym: "CIE" EXACT [Orphanet:79394]
synonym: "congenital ichthyosiform erythroderma" EXACT [MONDO:ambiguous]
synonym: "congenital ichthyosiform erythroderma (disease)" EXACT [MONDO:0002080]
synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [DOID:1699]
synonym: "erythrodermic ichthyosis" EXACT [Orphanet:79394]
synonym: "ichthyosiform erythroderma" EXACT [DOID:1699, MTHICD9_2006:757.1]
synonym: "lamellar desquamation of the newborn" RELATED [DOID:1699]
synonym: "lamellar ichthyosis" EXACT [CSP2005:0726-9470, DOID:1699]
synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:79394]
synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699]
xref: DOID:1699 {source="MONDO:equivalentTo"}
xref: HP:0007431 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q80.2 {source="ORDO:79394/attributed", source="ORDO:79394/ntbt", source="DOID:1699", source="Orphanet:79394"}
xref: Orphanet:79394 {source="MONDO:equivalentTo"}
xref: SCTID:205550003 {source="MONDO:equivalentTo", source="DOID:1699", source="MONDO:kboom-pr-0.93/0.84/0.13"}
is_a: MONDO:0017265 {source="Orphanet:79394"} ! autosomal recessive congenital ichthyosis
property_value: closeMatch http://identifiers.org/mesh/D016113
property_value: closeMatch http://identifiers.org/snomedct/12215009
property_value: closeMatch http://identifiers.org/snomedct/205549003
property_value: closeMatch http://identifiers.org/snomedct/205556009
property_value: closeMatch http://identifiers.org/snomedct/254156001
property_value: closeMatch http://identifiers.org/snomedct/267372009
property_value: closeMatch http://identifiers.org/snomedct/268245001
property_value: closeMatch http://identifiers.org/snomedct/268282005
property_value: closeMatch http://identifiers.org/snomedct/35970001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079583
property_value: exactMatch DOID:1699
property_value: exactMatch http://identifiers.org/snomedct/205550003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079154
property_value: exactMatch Orphanet:79394

[Term]
id: MONDO:0019307
name: generalized junctional epidermolysis bullosa non-Herlitz type
def: "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." [Orphanet:79402]
subset: ordo_clinical_subtype {source="Orphanet:79402"}
synonym: "GABEB" EXACT [DOID:0060738, Orphanet:79402]
synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [DOID:0060738, Orphanet:79402]
synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738]
synonym: "JEB, generalized intermediate" EXACT [Orphanet:79402]
synonym: "JEB-nH gen" EXACT [DOID:0060738, Orphanet:79402]
synonym: "JEN-nH" EXACT EXCLUDE [DOID:0060738]
synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [DOID:0060738, Orphanet:79402]
synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [DOID:0060738]
synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, Orphanet:79402]
synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402]
xref: DOID:0060738 {source="MONDO:equivalentTo"}
xref: GARD:0012922 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q81.8 {source="Orphanet:79402", source="DOID:0060738", source="ORDO:79402/attributed", source="ORDO:79402/ntbt"}
xref: Orphanet:79402 {source="MONDO:equivalentTo", source="DOID:0060738"}
xref: SCTID:724225008 {source="MONDO:equivalentTo"}
is_a: MONDO:0009180 {source="MONDOLEX:0019307", source="Orphanet:79402"} ! junctional epidermolysis bullosa, non-Herlitz type
property_value: exactMatch DOID:0060738
property_value: exactMatch http://identifiers.org/snomedct/724225008
property_value: exactMatch Orphanet:79402

[Term]
id: MONDO:0019308
name: junctional epidermolysis bullosa inversa
def: "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." [Orphanet:79405]
subset: ordo_disease {source="Orphanet:79405"}
synonym: "EBJ-I" EXACT [Orphanet:79405]
synonym: "inverse JEB" EXACT [Orphanet:79405]
synonym: "JEB-I" EXACT [Orphanet:79405]
xref: GARD:0002143 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.8 {source="Orphanet:79405", source="ORDO:79405/attributed", source="ORDO:79405/ntbt"}
xref: Orphanet:79405 {source="MONDO:equivalentTo"}
xref: UMLS:C2673609 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79405", source="MONDO:equivalentTo"}
xref: UMLS:C2673610 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017612 {source="MONDOLEX:0019308", source="Orphanet:79405"} ! junctional epidermolysis bullosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2673610
property_value: exactMatch Orphanet:79405

[Term]
id: MONDO:0019309
name: late-onset junctional epidermolysis bullosa
def: "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." [Orphanet:79406]
subset: gard_rare {source="GARD:0012921"}
subset: ordo_disease {source="Orphanet:79406"}
synonym: "EB progressive" EXACT [Orphanet:79406]
synonym: "JEB-lo" EXACT [Orphanet:79406]
xref: GARD:0012921 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.8 {source="Orphanet:79406", source="ORDO:79406/attributed", source="ORDO:79406/ntbt"}
xref: Orphanet:79406 {source="MONDO:equivalentTo"}
xref: SCTID:719432000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304724 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN205949 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017612 {source="MONDOLEX:0019309", source="Orphanet:79406"} ! junctional epidermolysis bullosa
property_value: exactMatch http://identifiers.org/snomedct/719432000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205949
property_value: exactMatch Orphanet:79406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa xsd:anyURI {source="GARD:0012921"}

[Term]
id: MONDO:0019310
name: recessive dystrophic epidermolysis bullosa inversa
def: "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." [Orphanet:79409]
subset: ordo_disease {source="Orphanet:79409"}
synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409]
synonym: "inverse RDEB" EXACT [Orphanet:79409]
synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409]
synonym: "RDEB-I" EXACT [Orphanet:79409]
xref: ICD10:Q81.2 {source="ORDO:79409/attributed", source="ORDO:79409/ntbt", source="Orphanet:79409"}
xref: Orphanet:79409 {source="MONDO:equivalentTo"}
xref: UMLS:CN205951 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009179 {source="MONDOLEX:0019310"} ! recessive dystrophic epidermolysis bullosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205951
property_value: exactMatch Orphanet:79409

[Term]
id: MONDO:0019311
name: woolly hair nevus
def: "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." [Orphanet:79414]
subset: ordo_disease {source="Orphanet:79414"}
synonym: "wooly hair nevus" EXACT [Orphanet:79414]
xref: ICD10:D23.4 {source="Orphanet:79414", source="ORDO:79414/attributed", source="ORDO:79414/ntbt"}
xref: Orphanet:79414 {source="MONDO:equivalentTo"}
xref: SCTID:239124001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343114 {source="Orphanet:79414", source="MONDO:equivalentTo", source="ORDO:79414/e"}
is_a: MONDO:0002297 ! epidermal appendage tumor
is_a: MONDO:0008093 ! nevus, epidermal
is_a: MONDO:0019281 {source="Orphanet:79414"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/snomedct/239124001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343114
property_value: exactMatch Orphanet:79414

[Term]
id: MONDO:0019312
name: Hermansky-Pudlak syndrome
def: "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." [Orphanet:79430]
subset: ordo_disease {source="Orphanet:79430"}
synonym: "Hermansky Pudlak syndrome" RELATED [GARD:0006643]
synonym: "HPS" EXACT [Orphanet:79430]
synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [CSP2005:0446-1413, DOID:3753]
xref: DOID:3753 {source="MONDO:equivalentTo"}
xref: GARD:0006643 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E70.3 {source="ORDO:79430/ntbt", source="MONDO:relatedTo", source="Orphanet:79430", source="ORDO:79430/inclusion"}
xref: ICD10:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071775 {source="ORDO:79430/e", source="Orphanet:79430"}
xref: MESH:D022861 {source="DOID:3753", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C37261 {source="DOID:3753", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: OMIMPS:203300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79430 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: SCTID:9311003 {source="DOID:3753", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/1.16"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C37261", source="indirect"} ! syndromic disease
is_a: MONDO:0017305 {source="Orphanet:79430"} ! syndromic oculocutaneous albinism
is_a: MONDO:0017739 {source="Orphanet:79430"} ! disorder of lysosomal-related organelles
is_a: MONDO:0020118 {source="Orphanet:79430"} ! dense granule disease
property_value: closeMatch http://identifiers.org/snomedct/190697008
property_value: closeMatch http://identifiers.org/snomedct/60255003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079504
property_value: exactMatch DOID:3753
property_value: exactMatch http://identifiers.org/meddra/10071775
property_value: exactMatch http://identifiers.org/mesh/D022861
property_value: exactMatch http://identifiers.org/snomedct/9311003
property_value: exactMatch NCIT:C37261
property_value: exactMatch Orphanet:79430

[Term]
id: MONDO:0019313
name: hereditary lymphedema
def: "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." [Orphanet:79452]
subset: ordo_disease {source="Orphanet:79452"}
synonym: "congenital hereditary lymphedema" RELATED [GARD:0007220]
synonym: "congenital primary lymphedema" EXACT [Orphanet:79452]
synonym: "early onset lymphedema" RELATED [GARD:0007220]
synonym: "hereditary lymphedema" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary lymphedema 1" RELATED [GARD:0007220]
synonym: "hereditary lymphedema type I" EXACT [Orphanet:79452]
synonym: "lymphedema, hereditary" EXACT [OMIMPS:153100]
synonym: "Milroy's disease" EXACT [DOID:0050580]
synonym: "Nonne-Milroy disease" RELATED [GARD:0007220]
synonym: "Nonne-Milroy lymphedema" EXACT [DOID:0050580, Orphanet:79452]
synonym: "Nonne-Milroy syndrome" RELATED [GARD:0007220]
synonym: "Nonne’s syndrome" RELATED [GARD:0007220]
xref: DOID:0050580 {source="MONDO:equivalentTo"}
xref: GARD:0007220 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.0 {source="ORDO:79452/attributed", source="ORDO:79452/ntbt", source="MONDO:equivalentTo", source="Orphanet:79452"}
xref: ICD9:757.0 {source="DOID:0050580"}
xref: OMIMPS:153100 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:79452 {source="MONDO:equivalentTo", source="DOID:0050580"}
xref: SCTID:254199006 {source="MONDO:equivalentTo"}
xref: SCTID:399889006 {source="MONDO:equivalentTo"}
is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:79452", source="Orphanet:79452/inferred"} ! genetic vascular anomaly
is_a: MONDO:0019175 {source="MONDOLEX:0019313", source="Orphanet:79452", source="Orphanet:79452/inferred"} ! primary lymphedema
is_a: MONDO:0020202 {source="Orphanet:79452", source="Orphanet:79452/inferred"} ! conjunctival lymphangiectasia
intersection_of: MONDO:0019297 ! lymphedema
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/205542007
property_value: closeMatch http://identifiers.org/snomedct/205543002
property_value: closeMatch http://identifiers.org/snomedct/205546005
property_value: closeMatch http://identifiers.org/snomedct/75127007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1313885
property_value: exactMatch DOID:0050580
property_value: exactMatch http://identifiers.org/snomedct/254199006
property_value: exactMatch http://identifiers.org/snomedct/399889006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704423
property_value: exactMatch Orphanet:79452

[Term]
id: MONDO:0019314
name: cutaneous mastocytoma
def: "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79455]
subset: ordo_disease {source="Orphanet:79455"}
synonym: "cutaneous local mastocytoma" EXACT [Orphanet:79455]
synonym: "multiple mastocytoma" EXACT [Orphanet:79455]
synonym: "solitary mastocytoma" EXACT [Orphanet:79455]
xref: GARD:0012687 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:79455/ntbt", source="Orphanet:79455"}
xref: Orphanet:79455 {source="MONDO:equivalentTo"}
is_a: MONDO:0019023 {source="Orphanet:79455"} ! cutaneous mastocytosis
property_value: exactMatch http://identifiers.org/mesh/D054705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343115
property_value: exactMatch Orphanet:79455

[Term]
id: MONDO:0019315
name: diffuse cutaneous mastocytosis
def: "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term)." [Orphanet:79456]
subset: ordo_disease {source="Orphanet:79456"}
synonym: "DCM" BROAD [Orphanet:79456]
synonym: "diffuse cutaneous maculopapulous mastocytosis" EXACT [Orphanet:79456]
synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT:C3218]
xref: DOID:3665 {source="MONDO:equivalentTo"}
xref: GARD:0012686 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:79456/ntbt", source="Orphanet:79456"}
xref: ICDO:9740/1 {source="NCIT:C3218"}
xref: MedDRA:10012812 {source="ORDO:79456/e", source="Orphanet:79456"}
xref: NCIT:C3218 {source="DOID:3665", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:79456 {source="MONDO:equivalentTo"}
xref: UMLS:C0024901 {source="DOID:3665", source="MONDO:equivalentTo", source="ORDO:79456/e", source="Orphanet:79456", source="NCIT:C3218"}
is_a: MONDO:0019023 {source="DOID:3665", source="MONDOLEX:0019315", source="NCIT:C3218/inferred", source="Orphanet:79456"} ! cutaneous mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/703826004
property_value: exactMatch DOID:3665
property_value: exactMatch http://identifiers.org/meddra/10012812
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024901
property_value: exactMatch NCIT:C3218
property_value: exactMatch Orphanet:79456

[Term]
id: MONDO:0019316
name: maculopapular cutaneous mastocytosis
def: "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79457]
subset: ordo_disease {source="Orphanet:79457"}
synonym: "Paucicellular mastocytosis" RELATED [GARD:0013079]
synonym: "telangiectasia macularis eruptive perstans" RELATED [GARD:0013079]
synonym: "telangiectatic cutaneous mastocytosis" RELATED [GARD:0013079]
synonym: "UP/MPCM" EXACT [DOID:12309, NCIT:C3433]
synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457]
synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433]
xref: DOID:12309 {source="MONDO:equivalentTo"}
xref: GARD:0013079 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79457", source="DOID:12309", source="ORDO:79457/ntbt"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9740/1 {source="NCIT:C3433"}
xref: MedDRA:10046752 {source="Orphanet:79457", source="ORDO:79457/e"}
xref: NCIT:C3433 {source="MONDO:equivalentTo", source="DOID:12309", source="MONDO:kboom-pr-0.99/0.75/4.32"}
xref: Orphanet:79457 {source="MONDO:equivalentTo"}
xref: SCTID:78745000 {source="MONDO:equivalentTo", source="DOID:12309", source="MONDO:kboom-pr-0.94/0.76/1.66"}
xref: UMLS:C0042111 {source="Orphanet:79457", source="MONDO:equivalentTo", source="DOID:12309", source="NCIT:C3433", source="ORDO:79457/e"}
is_a: MONDO:0019023 {source="DOID:12309", source="MONDOLEX:0019316", source="NCIT:C3433/inferred", source="Orphanet:79457", source="linkedlifedata"} ! cutaneous mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/205566001
property_value: closeMatch http://identifiers.org/snomedct/703828003
property_value: exactMatch DOID:12309
property_value: exactMatch http://identifiers.org/meddra/10046752
property_value: exactMatch http://identifiers.org/mesh/D014582
property_value: exactMatch http://identifiers.org/snomedct/78745000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042111
property_value: exactMatch NCIT:C3433
property_value: exactMatch Orphanet:79457

[Term]
id: MONDO:0019317
name: follicular atrophoderma-basal cell carcinoma
subset: ordo_clinical_subtype {source="Orphanet:79459"}
xref: ICD10:L98.8 {source="Orphanet:79459", source="ORDO:79459/attributed", source="ORDO:79459/ntbt"}
xref: Orphanet:79459 {source="MONDO:equivalentTo"}
xref: UMLS:CN205972 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010535 {source="Orphanet:79459"} ! Bazex-Dupre-Christol syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205972
property_value: exactMatch Orphanet:79459

[Term]
id: MONDO:0019318
name: inflammatory linear verrucous epidermal nevus
subset: ordo_clinical_subtype {source="Orphanet:79466"}
synonym: "ILVEN" EXACT [Orphanet:79466]
synonym: "inflammatory linear verrucous epidermal naevus" RELATED [GARD:0005484]
synonym: "linear verrucose epidermal nevus" RELATED [GARD:0005484]
xref: GARD:0005484 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.5 {source="ORDO:79466/ntbt", source="Orphanet:79466"}
xref: Orphanet:79466 {source="MONDO:equivalentTo"}
xref: SCTID:399995006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: UMLS:C0473574 {source="MONDO:equivalentTo", source="ORDO:79466/e", source="Orphanet:79466"}
is_a: MONDO:0016831 {source="Orphanet:79466"} ! linear verrucous nevus syndrome
property_value: exactMatch http://identifiers.org/snomedct/399995006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473574
property_value: exactMatch Orphanet:79466

[Term]
id: MONDO:0019319
name: verrucous nevus
def: "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." [NCIT:C4674]
subset: ordo_clinical_subtype {source="Orphanet:79467"}
synonym: "verrucous Epidermal Nevus" EXACT [NCIT:C4674]
xref: ICD10:Q82.5 {source="ORDO:79467/ntbt", source="Orphanet:79467"}
xref: NCIT:C4674 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:79467 {source="MONDO:equivalentTo"}
xref: SCTID:398723007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.88"}
xref: UMLS:C0362030 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4674", source="Orphanet:79467"}
is_a: MONDO:0016831 {source="Orphanet:79467"} ! linear verrucous nevus syndrome
property_value: exactMatch http://identifiers.org/snomedct/398723007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0362030
property_value: exactMatch NCIT:C4674
property_value: exactMatch Orphanet:79467

[Term]
id: MONDO:0019320
name: acanthokeratolytic verrucous nevus
subset: gard_rare {source="GARD:0005485"}
subset: ordo_clinical_subtype {source="Orphanet:79468"}
synonym: "verrucous nevus acanthokeratolytic" RELATED [GARD:0005485]
xref: GARD:0005485 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.5 {source="Orphanet:79468", source="ORDO:79468/ntbt"}
xref: Orphanet:79468 {source="MONDO:equivalentTo"}
xref: UMLS:CN205975 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016831 {source="Orphanet:79468"} ! linear verrucous nevus syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205975
property_value: exactMatch Orphanet:79468
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic xsd:anyURI {source="GARD:0005485"}

[Term]
id: MONDO:0019321
name: atypical Werner syndrome
def: "mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." [Orphanet:79474]
subset: gard_rare {source="GARD:0011910"}
subset: ordo_disease {source="Orphanet:79474"}
synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474]
xref: GARD:0011910 {source="MONDO:equivalentTo"}
xref: ICD10:E34.8 {source="ORDO:79474/attributed", source="ORDO:79474/ntbt", source="Orphanet:79474"}
xref: Orphanet:79474 {source="MONDO:equivalentTo"}
xref: SCTID:715633008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275075 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN205977 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015333 {source="Orphanet:79474"} ! progeroid syndrome
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch http://identifiers.org/snomedct/715633008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205977
property_value: exactMatch Orphanet:79474
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome xsd:anyURI {source="GARD:0011910"}

[Term]
id: MONDO:0019322
name: pemphigus vegetans
subset: ordo_clinical_subtype {source="Orphanet:79479"}
xref: EFO:0008613 {source="MONDO:equivalentTo"}
xref: ICD10:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="ORDO:79479/e"}
xref: MedDRA:10057053 {source="Orphanet:79479", source="ORDO:79479/e"}
xref: Orphanet:79479 {source="MONDO:equivalentTo"}
xref: SCTID:81285006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0263316 {source="Orphanet:79479", source="MONDO:equivalentTo", source="ORDO:79479/e"}
xref: UMLS:CN205981 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008219 {source="EFO:0008613", source="Orphanet:79479"} ! pemphigus vulgaris
property_value: exactMatch http://identifiers.org/meddra/10057053
property_value: exactMatch http://identifiers.org/snomedct/81285006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263316
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205981
property_value: exactMatch Orphanet:79479

[Term]
id: MONDO:0019323
name: pemphigus erythematosus
def: "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [Orphanet:79480]
subset: ordo_disease {source="Orphanet:79480"}
synonym: "seborrheic pemphigus" EXACT [Orphanet:79480]
synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480]
xref: EFO:0008603 {source="MONDO:equivalentTo"}
xref: ICD10:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="ORDO:79480/ntbt"}
xref: MedDRA:10058917 {source="ORDO:79480/e", source="Orphanet:79480"}
xref: Orphanet:79480 {source="MONDO:equivalentTo"}
xref: SCTID:36739006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0263312 {source="ORDO:79480/e", source="MONDO:equivalentTo", source="Orphanet:79480"}
is_a: MONDO:0018745 {source="Orphanet:79480"} ! superficial pemphigus
property_value: exactMatch http://identifiers.org/meddra/10058917
property_value: exactMatch http://identifiers.org/snomedct/36739006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263312
property_value: exactMatch Orphanet:79480

[Term]
id: MONDO:0019324
name: pemphigus foliaceus
def: "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." [Orphanet:79481]
subset: gard_rare {source="GARD:0007354"}
subset: ordo_disease {source="Orphanet:79481"}
synonym: "PF" RELATED [GARD:0007354]
xref: EFO:0008601 {source="MONDO:equivalentTo"}
xref: GARD:0007354 {source="MONDO:equivalentTo"}
xref: HGNC:3050 {source="GARD:0007354"}
xref: ICD10:L10.2 {source="ORDO:79481/ntbt", source="Orphanet:79481"}
xref: MedDRA:10057069 {source="ORDO:79481/e", source="Orphanet:79481"}
xref: Orphanet:79481 {source="MONDO:equivalentTo"}
xref: SCTID:35154004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0263313 {source="ORDO:79481/e", source="MONDO:equivalentTo", source="Orphanet:79481"}
is_a: MONDO:0018745 {source="Orphanet:79481"} ! superficial pemphigus
property_value: exactMatch http://identifiers.org/meddra/10057069
property_value: exactMatch http://identifiers.org/snomedct/35154004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263313
property_value: exactMatch Orphanet:79481
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus xsd:anyURI {source="GARD:0007354"}

[Term]
id: MONDO:0019325
name: phakomatosis cesioflammea
subset: ordo_clinical_subtype {source="Orphanet:79483"}
synonym: "phakomatosis pigmentovascularis type 2" EXACT [Orphanet:79483]
xref: ICD10:Q85.8 {source="ORDO:79483/attributed", source="ORDO:79483/ntbt", source="Orphanet:79483"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79483 {source="MONDO:equivalentTo"}
xref: SCTID:703284009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN205984 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017318 {source="MONDOLEX:0019325", source="Orphanet:79483", source="linkedlifedata"} ! phakomatosis pigmentovascularis
property_value: exactMatch http://identifiers.org/snomedct/703284009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205984
property_value: exactMatch Orphanet:79483

[Term]
id: MONDO:0019326
name: phakomatosis cesiomarmorata
subset: ordo_clinical_subtype {source="Orphanet:79484"}
synonym: "phakomatosis caesiomarmorata" EXACT []
synonym: "phakomatosis cesiomarmorata" EXACT []
synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484]
xref: ICD10:Q85.8 {source="ORDO:79484/attributed", source="ORDO:79484/ntbt", source="Orphanet:79484"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79484 {source="MONDO:equivalentTo"}
xref: SCTID:703286006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN205985 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017318 {source="MONDOLEX:0019326", source="Orphanet:79484", source="linkedlifedata"} ! phakomatosis pigmentovascularis
property_value: exactMatch http://identifiers.org/snomedct/703286006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205985
property_value: exactMatch Orphanet:79484

[Term]
id: MONDO:0019327
name: phakomatosis spilorosea
subset: ordo_clinical_subtype {source="Orphanet:79485"}
synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485]
xref: ICD10:Q85.8 {source="ORDO:79485/attributed", source="ORDO:79485/ntbt", source="Orphanet:79485"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:79485 {source="MONDO:equivalentTo"}
xref: SCTID:703285005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN205986 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017318 {source="MONDOLEX:0019327", source="Orphanet:79485", source="linkedlifedata"} ! phakomatosis pigmentovascularis
property_value: exactMatch http://identifiers.org/snomedct/703285005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205986
property_value: exactMatch Orphanet:79485

[Term]
id: MONDO:0019328
name: macrocystic lymphatic malformation
def: "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." [NCIT:C53316]
subset: ordo_malformation_syndrome {source="Orphanet:79489"}
synonym: "cavernous lymphangioma" EXACT [Orphanet:79489]
synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489]
synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489]
xref: GARD:0006010 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D18.1 {source="ORDO:79489/ntbt", source="Orphanet:79489"}
xref: NCIT:C53316 {source="MONDO:equivalentTo"}
xref: Orphanet:79489 {source="MONDO:equivalentTo"}
is_a: MONDO:0018720 {source="Orphanet:79489"} ! common cystic lymphatic malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205828
property_value: exactMatch NCIT:C53316
property_value: exactMatch Orphanet:79489

[Term]
id: MONDO:0019329
name: microcystic lymphatic malformation
subset: ordo_malformation_syndrome {source="Orphanet:79490"}
synonym: "capillary lymphangioma" EXACT [Orphanet:79490]
synonym: "capillary lymphatic malformation" EXACT [Orphanet:79490]
synonym: "cutaneous lymphangioma circumscriptum" EXACT [Orphanet:79490]
synonym: "microcystic infiltrating lymphatic malformation" EXACT [Orphanet:79490]
synonym: "microcystic lymphangioma" EXACT [Orphanet:79490]
synonym: "superficial lymphangioma" EXACT [Orphanet:79490]
synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490]
xref: GARD:0013020 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D18.1 {source="Orphanet:79490", source="ORDO:79490/ntbt"}
xref: Orphanet:79490 {source="MONDO:equivalentTo"}
is_a: MONDO:0018720 {source="Orphanet:79490"} ! common cystic lymphatic malformation
property_value: exactMatch Orphanet:79490

[Term]
id: MONDO:0019330
name: pili gemini
def: "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." [Orphanet:79492]
subset: ordo_disease {source="Orphanet:79492"}
synonym: "pili multigemini" EXACT [Orphanet:79492]
xref: ICD10:L67.8 {source="ORDO:79492/attributed", source="ORDO:79492/ntbt", source="Orphanet:79492"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537188 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:79492 {source="MONDO:equivalentTo"}
xref: SCTID:42829009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
is_a: MONDO:0019281 {source="Orphanet:79492"} ! isolated genetic hair shaft abnormality
property_value: exactMatch http://identifiers.org/mesh/C537188
property_value: exactMatch http://identifiers.org/snomedct/42829009
property_value: exactMatch Orphanet:79492

[Term]
id: MONDO:0019331
name: obsolete rare form of salmonellosis
comment: We want to remove rare X terms from Mondo.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1747 xsd:string
is_obsolete: true
replaced_by: MONDO:0000827

[Term]
id: MONDO:0019332
name: punctate palmoplantar keratoderma type 1
def: "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." [Orphanet:79501]
subset: ordo_disease {source="Orphanet:79501"}
synonym: "Brauer-Buschke-Fischer syndrome" RELATED [GARD:0003103]
synonym: "Buschke-Fischer-Brauer syndrome" EXACT [Orphanet:79501]
synonym: "keratoderma, palmoplantar punctate type 1" RELATED [GARD:0003103]
synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT [Orphanet:79501]
synonym: "PPKP1" EXACT [Orphanet:79501]
synonym: "punctate palmoplantar keratoderma type I" RELATED [GARD:0003103]
synonym: "type I punctate palmoplantar keratoderma" RELATED [GARD:0003103]
xref: GARD:0003103 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q82.8 {source="Orphanet:79501", source="ORDO:79501/attributed", source="ORDO:79501/ntbt"}
xref: Orphanet:79501 {source="MONDO:equivalentTo"}
xref: SCTID:717184007 {source="MONDO:kboom-pr-0.90/0.75/0.53", source="MONDO:equivalentTo"}
xref: UMLS:CN205995 {source="MONDO:equivalentTo"}
is_a: MONDO:0016518 {source="Orphanet:79501"} ! isolated punctate palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/snomedct/717184007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN205995
property_value: exactMatch Orphanet:79501

[Term]
id: MONDO:0019333
name: autosomal recessive hyperinsulinism due to SUR1 deficiency
subset: ordo_disease {source="Orphanet:79643"}
synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:79643]
xref: ICD10:E16.1 {source="ORDO:79643/attributed", source="ORDO:79643/ntbt", source="Orphanet:79643"}
xref: Orphanet:79643 {source="MONDO:equivalentTo"}
xref: UMLS:CN206002 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009734 {source="MONDOLEX:0019333"} ! hyperinsulinemic hypoglycemia, familial, 1
is_a: MONDO:0015625 {source="Orphanet:79643"} ! diazoxide-resistant diffuse hyperinsulinism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206002
property_value: exactMatch Orphanet:79643

[Term]
id: MONDO:0019334
name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency
subset: ordo_disease {source="Orphanet:79644"}
synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:79644]
xref: ICD10:E16.1 {source="Orphanet:79644", source="ORDO:79644/attributed", source="ORDO:79644/ntbt"}
xref: Orphanet:79644 {source="MONDO:equivalentTo"}
xref: UMLS:CN206003 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0015625 {source="Orphanet:79644"} ! diazoxide-resistant diffuse hyperinsulinism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206003
property_value: exactMatch Orphanet:79644

[Term]
id: MONDO:0019335
name: mild hyperphenylalaninemia
def: "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." [Orphanet:79651]
subset: ordo_clinical_subtype {source="Orphanet:79651"}
synonym: "mHPA" EXACT [Orphanet:79651]
synonym: "mild HPA" EXACT [Orphanet:79651]
synonym: "non-PKU HPA" EXACT [Orphanet:79651]
xref: ICD10:E70.1 {source="ORDO:79651/attributed", source="ORDO:79651/ntbt", source="Orphanet:79651"}
xref: Orphanet:79651 {source="MONDO:equivalentTo"}
is_a: MONDO:0009861 {source="Orphanet:79651"} ! phenylketonuria
property_value: exactMatch Orphanet:79651

[Term]
id: MONDO:0019336
name: Gardner syndrome
def: "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." [Orphanet:79665]
subset: ordo_clinical_subtype {source="Orphanet:79665"}
synonym: "Gardner syndrome" EXACT [NCIT:C6728]
synonym: "Gardner's syndrome" EXACT [NCIT:C6728]
synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482]
synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482]
xref: GARD:0006482 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D12.6 {source="ORDO:79665/attributed", source="ORDO:79665/ntbt", source="Orphanet:79665"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10017727 {source="ORDO:79665/e", source="Orphanet:79665"}
xref: MESH:D005736 {source="MONDO:equivalentTo", source="ORDO:79665/e", source="Orphanet:79665"}
xref: NCIT:C6728 {source="MONDO:equivalentTo"}
xref: Orphanet:79665 {source="MONDO:equivalentTo"}
xref: SCTID:60876000 {source="MONDO:kboom-pr-0.89/0.76/0.34", source="MONDO:equivalentTo"}
xref: UMLS:C0017097 {source="MONDO:equivalentTo", source="ORDO:79665/e", source="NCIT:C6728", source="Orphanet:79665"}
is_a: MONDO:0020273 {source="Orphanet:79665"} ! disease with potential neoplastic degeneration associated with ocular features
is_a: MONDO:0021055 {source="NCIT:C6728", source="Orphanet:79665", source="linkedlifedata"} ! classic familial adenomatous polyposis
is_a: MONDO:0021220 ! eye neoplasm
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:79665", source="indirect"} ! inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79665"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020063 {source="Orphanet:79665"} ! malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0020176 {source="Orphanet:79665"} ! palpebral sebaceous gland tumor
property_value: exactMatch http://identifiers.org/meddra/10017727
property_value: exactMatch http://identifiers.org/mesh/D005736
property_value: exactMatch http://identifiers.org/snomedct/60876000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017097
property_value: exactMatch NCIT:C6728
property_value: exactMatch Orphanet:79665

[Term]
id: MONDO:0019337
name: autoimmune bullous skin disease
def: "An autoimmune disease characterized by blisters on the skin." [MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:79669"}
synonym: "bullous dermatosis" RELATED []
synonym: "bullous skin disease" BROAD [MONDO:0006529]
xref: COHD:137944 {source="MONDO:equivalentTo"}
xref: DOID:8502 {source="MONDO:equivalentTo", source="EFO:1000673"}
xref: EFO:1000673 {source="MONDO:equivalentTo"}
xref: ICD9:694.8 {source="DOID:8502", source="MONDO:relatedTo", source="i2s"}
xref: ICD9:694.9 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:79669 {source="MONDO:equivalentTo"}
xref: SCTID:7231009 {source="MONDO:kboom-pr-1.00/0.75/6.84", source="MONDO:equivalentTo"}
xref: UMLS:CN206006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="DOID:8502"} ! dermatitis
is_a: MONDO:0006617 ! vesiculobullous skin disease
is_a: MONDO:0017841 {source="MONDO:Redundant", source="Orphanet:79669"} ! autoimmune disease with skin involvement
property_value: closeMatch http://identifiers.org/snomedct/200916004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0079957
property_value: exactMatch DOID:8502
property_value: exactMatch http://identifiers.org/snomedct/7231009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206006
property_value: exactMatch Orphanet:79669

[Term]
id: MONDO:0019338
name: sarcoidosis
def: "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." [Orphanet:797]
comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease
subset: ordo_disease {source="Orphanet:797"}
synonym: "benign lymphogranulomatosis of Schaumann" RELATED []
synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797]
synonym: "besnier-Boeck-Schaumann syndrome" EXACT []
synonym: "Boeck sarcoid" EXACT [DOID:11335, Orphanet:797]
synonym: "Boeck's sarcoid" EXACT [Orphanet:797]
synonym: "Boeck's sarcoidosis" EXACT []
synonym: "Darier-Roussy sarcoid" EXACT []
synonym: "lupus pernio of Besnier" RELATED []
synonym: "lymphogranulomatosis" EXACT [CSP2005:2024-3715, DOID:11335]
synonym: "miliary lupoid of boeck" RELATED []
synonym: "sarcoid" EXACT [NCIT:C34995]
synonym: "sarcoidosis" EXACT []
xref: COHD:438688 {source="MONDO:equivalentTo"}
xref: DOID:11335 {source="MONDO:equivalentTo"}
xref: ICD10:D80-D89 {source="DOID:11335"}
xref: ICD10:D86 {source="DOID:11335"}
xref: ICD10:D86.0 {source="Orphanet:797", source="ORDO:797/btnt"}
xref: ICD10:D86.1 {source="Orphanet:797", source="ORDO:797/btnt"}
xref: ICD10:D86.2 {source="Orphanet:797", source="ORDO:797/btnt"}
xref: ICD10:D86.3 {source="Orphanet:797", source="MONDO:superClassOf", source="ORDO:797/btnt"}
xref: ICD10:D86.8 {source="Orphanet:797", source="ORDO:797/btnt"}
xref: ICD10:D86.9 {source="Orphanet:797", source="DOID:11335", source="ORDO:797/btnt"}
xref: ICD9:135 {source="DOID:11335", source="MONDO:superClassOf", source="linkedlifedata"}
xref: MedDRA:10039486 {source="Orphanet:797", source="ORDO:797/e"}
xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="ORDO:797/e"}
xref: NCIT:C34995 {source="DOID:11335", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.70/0.88"}
xref: Orphanet:797 {source="DOID:11335", source="MONDO:equivalentTo"}
xref: SCTID:31541009 {source="DOID:11335", source="MONDO:equivalentTo", source="MONDO:superClassOf"}
xref: UMLS:C0036202 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="NCIT:C34995", source="ORDO:797/e"}
is_a: MONDO:0015938 {source="Orphanet:797"} ! systemic disease
is_a: MONDO:0017955 {source="Orphanet:797"} ! granulomatous autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:11335"} ! type IV hypersensitivity disease
relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C34995"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:797"} ! inflammatory and autoimmune disease with epilepsy
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:797"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:797"} ! non-familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0017259 {source="Orphanet:797"} ! systemic diseases with anterior uveitis
relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:797"} ! systemic diseases with posterior uveitis
relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:797"} ! systemic diseases with panuveitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:797"} ! secondary glomerular disease
relationship: excluded_subClassOf MONDO:0019843 {source="Orphanet:797"} ! pituitary hormone deficiency secondary to a granulomatous disease
property_value: closeMatch http://identifiers.org/snomedct/154425004
property_value: exactMatch DOID:11335
property_value: exactMatch http://identifiers.org/meddra/10039486
property_value: exactMatch http://identifiers.org/mesh/D012507
property_value: exactMatch http://identifiers.org/snomedct/31541009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036202
property_value: exactMatch NCIT:C34995
property_value: exactMatch Orphanet:797

[Term]
id: MONDO:0019339
name: 47,XYY syndrome
def: "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." [Orphanet:8]
subset: ordo_malformation_syndrome {source="Orphanet:8"}
synonym: "47, XYY syndrome" RELATED [GARD:0005674]
synonym: "47,XYY" EXACT [NCIT:C85237]
synonym: "47,XYY syndrome" EXACT [NCIT:C85237]
synonym: "disomy Y" EXACT [Orphanet:8]
synonym: "Double Y" EXACT [Orphanet:8]
synonym: "Double Y syndrome" EXACT [Orphanet:8]
synonym: "XYY karyotype" EXACT [NCIT:C85237]
synonym: "XYY syndrome" EXACT [NCIT:C85237]
synonym: "Y disomy" EXACT [Orphanet:8]
synonym: "YY syndrome" RELATED [GARD:0005674]
xref: GARD:0005674 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q98.5 {source="ORDO:8/e", source="ORDO:8/specific", source="Orphanet:8"}
xref: MedDRA:10056894 {source="ORDO:8/e", source="Orphanet:8"}
xref: MESH:C535317 {source="ORDO:8/e", source="Orphanet:8", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85237 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:8 {source="MONDO:equivalentTo"}
xref: SCTID:50749006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0019339", source="NCIT:C85237"} ! syndromic disease
is_a: MONDO:0017005 {source="Orphanet:8"} ! Y chromosome number anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3266843
property_value: exactMatch http://identifiers.org/meddra/10056894
property_value: exactMatch http://identifiers.org/mesh/C535317
property_value: exactMatch http://identifiers.org/mesh/D014997
property_value: exactMatch http://identifiers.org/snomedct/50749006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043379
property_value: exactMatch NCIT:C85237
property_value: exactMatch Orphanet:8

[Term]
id: MONDO:0019340
name: scleroderma (disease)
def: "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms)." [Orphanet:801]
subset: ordo_group_of_disorders {source="Orphanet:801"}
synonym: "dermatosclerosis" EXACT [CSP2005:2716-6998, DOID:419]
synonym: "Scleroderma" EXACT [MONDO:ambiguous, NCIT:C26746]
synonym: "scleroderma" EXACT [MONDO:0002906, NCIT:C26746]
xref: DOID:419 {source="MONDO:equivalentTo"}
xref: HP:0100324 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10039710 {source="ORDO:801/e", source="Orphanet:801"}
xref: NCIT:C26746 {source="DOID:419", source="MONDO:equivalentTo"}
xref: Orphanet:801 {source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="DOID:419", source="NCIT:C26746"} ! rheumatologic disorder
is_a: MONDO:0015939 ! systemic autoimmune disease
is_a: MONDO:0017368 {source="Orphanet:801"} ! systemic disease with skin involvement
property_value: closeMatch http://identifiers.org/snomedct/128457007
property_value: closeMatch http://identifiers.org/snomedct/156451000
property_value: closeMatch http://identifiers.org/snomedct/156454008
property_value: closeMatch http://identifiers.org/snomedct/201440007
property_value: closeMatch http://identifiers.org/snomedct/201441006
property_value: closeMatch http://identifiers.org/snomedct/267874003
property_value: closeMatch http://identifiers.org/snomedct/268049000
property_value: closeMatch http://identifiers.org/snomedct/287005009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0852007
property_value: exactMatch DOID:419
property_value: exactMatch http://identifiers.org/meddra/10039710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011644
property_value: exactMatch NCIT:C26746
property_value: exactMatch Orphanet:801

[Term]
id: MONDO:0019341
name: tuberous sclerosis complex
def: "Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." [Orphanet:805]
subset: gard_rare
subset: ordo_disease {source="Orphanet:805"}
synonym: "Bourneville syndrome" EXACT [Orphanet:805]
synonym: "Bourneville's syndrome" RELATED [GARD:0000946]
synonym: "tuberous sclerosis" EXACT [Orphanet:805]
xref: GARD:0000946 {source="MONDO:equivalentTo"}
xref: GARD:0007830 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q85.1 {source="ORDO:805/e", source="Orphanet:805", source="ORDO:805/specific"}
xref: MedDRA:10045138 {source="ORDO:805/e", source="Orphanet:805"}
xref: Orphanet:805 {source="MONDO:equivalentTo"}
is_a: MONDO:0015651 {source="Orphanet:805"} ! neurocutaneous syndrome with epilepsy
is_a: MONDO:0015945 {source="Orphanet:805"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016756 {source="Orphanet:805"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0017891 {source="Orphanet:805"} ! inherited renal cancer-predisposing syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/meddra/10045138
property_value: exactMatch http://identifiers.org/mesh/D014402
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041341
property_value: exactMatch Orphanet:805

[Term]
id: MONDO:0019342
name: Seckel syndrome
def: "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." [NCIT:C125488]
subset: ordo_malformation_syndrome {source="Orphanet:808"}
synonym: "bird-headed dwarfism" EXACT [DOID:0050569]
synonym: "Harper's syndrome" EXACT [DOID:0050569]
synonym: "microcephalic primordial dwarfism" EXACT EXCLUDE [DOID:0050569]
synonym: "nanocephalic Dwarfism" EXACT [NCIT:C125488]
synonym: "SCKL" EXACT [NCIT:C125488]
synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488]
synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569]
xref: DOID:0050569 {source="MONDO:equivalentTo"}
xref: GARD:0008562 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:808/inclusion", source="ORDO:808/ntbt", source="DOID:0050569", source="Orphanet:808"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C125488 {source="MONDO:kboom-pr-0.92/0.68/1.66", source="MONDO:equivalentTo"}
xref: OMIMPS:210600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="MONDO:equivalentTo", source="DOID:0050569"}
xref: SCTID:57917004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265202 {source="MONDO:equivalentTo", source="ORDO:808/e", source="NCIT:C125488", source="Orphanet:808"}
is_a: MONDO:0006025 {source="DOID:0050569", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017950 {source="Orphanet:808"} ! microcephalic primordial dwarfism
property_value: exactMatch DOID:0050569
property_value: exactMatch http://identifiers.org/mesh/C537533
property_value: exactMatch http://identifiers.org/snomedct/57917004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265202
property_value: exactMatch NCIT:C125488
property_value: exactMatch Orphanet:808

[Term]
id: MONDO:0019343
name: obsolete mixed connective tissue disease
is_obsolete: true
replaced_by: MONDO:0005854

[Term]
id: MONDO:0019344
name: antisynthetase syndrome
def: "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." [Orphanet:81]
subset: gard_rare {source="GARD:0000735"}
subset: ordo_disease {source="Orphanet:81"}
synonym: "anti-Jo1 syndrome" EXACT [Orphanet:81]
synonym: "AS syndrome" EXACT [Orphanet:81]
xref: EFO:1001982 {source="MONDO:equivalentTo"}
xref: GARD:0000735 {source="MONDO:equivalentTo"}
xref: ICD10:M35.8 {source="ORDO:81/ntbt", source="Orphanet:81"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068801 {source="Orphanet:81", source="ORDO:81/e"}
xref: MESH:C537778 {source="MONDO:equivalentTo", source="Orphanet:81", source="MONDO:ontobio", source="ORDO:81/e"}
xref: Orphanet:81 {source="MONDO:equivalentTo"}
xref: SCTID:445187004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2609059 {source="MONDO:equivalentTo", source="Orphanet:81", source="ORDO:81/e"}
is_a: MONDO:0020122 {source="Orphanet:81"} ! idiopathic inflammatory myopathy
property_value: exactMatch http://identifiers.org/meddra/10068801
property_value: exactMatch http://identifiers.org/mesh/C537778
property_value: exactMatch http://identifiers.org/snomedct/445187004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2609059
property_value: exactMatch Orphanet:81
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome xsd:anyURI {source="GARD:0000735"}

[Term]
id: MONDO:0019345
name: shigellosis
def: "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." [Orphanet:810]
subset: gard_rare {source="GARD:0004818"}
subset: ordo_disease {source="Orphanet:810"}
synonym: "bacillary dysentery" EXACT [DOID:12385]
synonym: "flexner's dysentery" RELATED []
synonym: "japanese dysentery" RELATED []
synonym: "Shigella boydii infectious disease" NARROW [DOID:12385]
synonym: "Shigella dysentery" RELATED []
synonym: "Shigella flexneri infectious disease" NARROW [DOID:12385]
synonym: "Shigella gastroenteritis" EXACT [DOID:12385]
synonym: "Shigella sonnei infectious disease" NARROW [DOID:12385]
synonym: "shigellosis" EXACT []
xref: COHD:201780 {source="MONDO:equivalentTo"}
xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"}
xref: EFO:0005585 {source="MONDO:equivalentTo"}
xref: GARD:0004818 {source="MONDO:equivalentTo"}
xref: ICD10:A03 {source="MONDO:equivalentTo", source="DOID:12385"}
xref: ICD10:A03.0 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"}
xref: ICD10:A03.1 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"}
xref: ICD10:A03.2 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"}
xref: ICD10:A03.3 {source="Orphanet:810", source="ORDO:810/btnt"}
xref: ICD10:A03.8 {source="Orphanet:810", source="ORDO:810/btnt"}
xref: ICD10:A03.9 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"}
xref: ICD9:004 {source="EFO:0005585", source="DOID:12385"}
xref: ICD9:004.0 {source="DOID:12385"}
xref: ICD9:004.1 {source="DOID:12385"}
xref: ICD9:004.2 {source="DOID:12385"}
xref: ICD9:004.3 {source="DOID:12385"}
xref: ICD9:004.9 {source="DOID:12385", source="linkedlifedata"}
xref: KEGG:05131 {source="MONDO:equivalentTo", source="DOID:12385"}
xref: MedDRA:10017915 {source="ORDO:810/e", source="Orphanet:810"}
xref: MedDRA:10054178 {source="ORDO:810/e", source="Orphanet:810"}
xref: MESH:D004405 {source="MONDO:equivalentTo", source="DOID:12385", source="MONDO:ontobio"}
xref: Orphanet:810 {source="MONDO:equivalentTo"}
xref: SCTID:36188001 {source="EFO:0005585", source="MONDO:equivalentTo", source="DOID:12385"}
is_a: MONDO:0000314 {source="DOID:12385"} ! primary bacterial infectious disease
is_a: MONDO:0001517 {source="EFO:0005585", source="MESH:D004405", source="linkedlifedata", source="linkedlifedata/inferred"} ! dysentery
is_a: MONDO:0024634 ! large intestine disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/111817006
property_value: closeMatch http://identifiers.org/snomedct/154272001
property_value: closeMatch http://identifiers.org/snomedct/186104004
property_value: closeMatch http://identifiers.org/snomedct/186105003
property_value: closeMatch http://identifiers.org/snomedct/186108001
property_value: closeMatch http://identifiers.org/snomedct/187272003
property_value: closeMatch http://identifiers.org/snomedct/266175007
property_value: closeMatch http://identifiers.org/snomedct/34335000
property_value: closeMatch http://identifiers.org/snomedct/55760004
property_value: closeMatch http://identifiers.org/snomedct/66301008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302358
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302359
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302360
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302361
property_value: exactMatch DOID:12385
property_value: exactMatch http://identifiers.org/meddra/10017915
property_value: exactMatch http://identifiers.org/meddra/10054178
property_value: exactMatch http://identifiers.org/mesh/D004405
property_value: exactMatch http://identifiers.org/snomedct/36188001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013371
property_value: exactMatch Orphanet:810
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4818/shigellosis xsd:anyURI {source="GARD:0004818"}

[Term]
id: MONDO:0019346
name: sialidosis type 1
def: "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." [Orphanet:812]
subset: ordo_disease {source="Orphanet:812"}
synonym: "cherry red spot myoclonus syndrome" RELATED [GARD:0007639]
synonym: "cherry-red spot-myoclonus syndrome" EXACT [Orphanet:812]
synonym: "lipomucopolysaccharidosis" EXACT [Orphanet:812]
synonym: "myoclonus cherry red spot syndrome" RELATED [GARD:0007639]
synonym: "Normomorphic sialidosis" EXACT [Orphanet:812]
synonym: "normosomatic sialidosis" EXACT []
synonym: "sialidosis type I" RELATED [GARD:0007639]
xref: GARD:0007639 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E77.1 {source="Orphanet:812", source="ORDO:812/attributed", source="ORDO:812/ntbt"}
xref: Orphanet:812 {source="MONDO:equivalentTo"}
xref: SCTID:34960006 {source="MONDO:equivalentTo"}
xref: UMLS:C0023806 {source="ORDO:812/e", source="Orphanet:812", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN206021 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017734 {source="Orphanet:812", source="linkedlifedata"} ! sialidosis
is_a: MONDO:0019058 {source="Orphanet:812"} ! neurometabolic disease
is_a: MONDO:0020282 {source="Orphanet:812"} ! metabolic disease with macular cherry-red spot
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268226
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850510
property_value: exactMatch http://identifiers.org/snomedct/34960006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023806
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206021
property_value: exactMatch Orphanet:812

[Term]
id: MONDO:0019347
name: peeling skin syndrome
def: "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." [Orphanet:817]
subset: ordo_group_of_disorders {source="Orphanet:817"}
synonym: "deciduous skin" EXACT [Orphanet:817]
synonym: "familial continuous skin peeling" RELATED [GARD:0007347]
synonym: "familial continuous skin peeling syndrome" EXACT [Orphanet:817]
synonym: "idiopathic deciduous skin" EXACT [Orphanet:817]
synonym: "keratosis exfoliativa congenita" EXACT [Orphanet:817]
synonym: "peeling skin disease" EXACT [Orphanet:817]
synonym: "PSS" EXACT [Orphanet:817]
synonym: "skin peeling syndrome" RELATED [GARD:0007347]
xref: DOID:0060283 {source="MONDO:equivalentTo"}
xref: GARD:0007347 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q80.8 {source="ORDO:817/attributed", source="ORDO:817/ntbt", source="Orphanet:817", source="DOID:0060283"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:270300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:817 {source="MONDO:equivalentTo"}
xref: SCTID:239065004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.03"}
is_a: MONDO:0017262 {source="Orphanet:817"} ! inherited non-syndromic ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0343064
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849193
property_value: exactMatch DOID:0060283
property_value: exactMatch http://identifiers.org/snomedct/239065004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406357
property_value: exactMatch Orphanet:817

[Term]
id: MONDO:0019348
name: Ehlers-Danlos syndrome with periventricular heterotopia
def: "Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." [Orphanet:82004]
subset: ordo_disease {source="Orphanet:82004"}
synonym: "EDS with periventricular heterotopia" EXACT [Orphanet:82004]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:82004", source="ORDO:82004/attributed", source="ORDO:82004/ntbt"}
xref: Orphanet:82004 {source="MONDO:equivalentTo"}
xref: SCTID:720857006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4303790 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017311 {source="Orphanet:82004"} ! rare disease with thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0020066 {source="MONDOLEX:0019348", source="Orphanet:82004", source="linkedlifedata"} ! Ehlers-Danlos syndrome
relationship: disease_has_feature MONDO:0020341 ! periventricular nodular heterotopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845235
property_value: exactMatch http://identifiers.org/omim/300537
property_value: exactMatch http://identifiers.org/snomedct/720857006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303790
property_value: exactMatch Orphanet:82004

[Term]
id: MONDO:0019349
name: Sotos syndrome
def: "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." [Orphanet:821]
subset: ordo_disease {source="Orphanet:821"}
synonym: "cerebral gigantism" EXACT [DOID:14748, Orphanet:821]
synonym: "cerebral gigantism syndrome" EXACT [NCIT:C75019]
synonym: "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" RELATED [GARD:0010091]
synonym: "Sotos' syndrome" EXACT [NCIT:C75019]
xref: DOID:14748 {source="MONDO:equivalentTo"}
xref: GARD:0010091 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.3 {source="DOID:14748", source="Orphanet:821", source="ORDO:821/inclusion", source="ORDO:821/ntbt"}
xref: MedDRA:10064387 {source="ORDO:821/e", source="Orphanet:821"}
xref: MESH:D058495 {source="ORDO:821/e", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo"}
xref: NCIT:C75019 {source="MONDO:kboom-pr-0.91/0.70/1.16", source="DOID:14748", source="MONDO:equivalentTo"}
xref: OMIMPS:117550 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:821 {source="DOID:14748", source="MONDO:equivalentTo"}
xref: UMLS:C0175695 {source="NCIT:C75019", source="ORDO:821/e", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo"}
xref: UMLS:CN239475 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 {source="DOID:14748", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015945 {source="Orphanet:821"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0016904 {source="Orphanet:821"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
is_a: MONDO:0020229 {source="Orphanet:821"} ! cerebral disease with cataract
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:821"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch DOID:14748
property_value: exactMatch http://identifiers.org/meddra/10064387
property_value: exactMatch http://identifiers.org/mesh/D058495
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239475
property_value: exactMatch NCIT:C75019
property_value: exactMatch Orphanet:821

[Term]
id: MONDO:0019350
name: hereditary spherocytosis
def: "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." [Orphanet:822]
subset: gard_rare {source="GARD:0006639"}
subset: ordo_disease {source="Orphanet:822"}
synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971, MTHICD9_2006:282.0]
synonym: "congenital spherocytosis" RELATED [GARD:0006639]
synonym: "Minkowski Chauffard syndrome" EXACT [CSP2005:0427-1870, DOID:12971]
synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822]
synonym: "spherocytic anemia" EXACT [DOID:12971]
xref: COHD:24909 {source="MONDO:equivalentTo"}
xref: DOID:12971 {source="MONDO:equivalentTo"}
xref: GARD:0006639 {source="MONDO:equivalentTo"}
xref: ICD10:D58.0 {source="ORDO:822/e", source="ORDO:822/specific", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"}
xref: ICD9:282.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12971"}
xref: MedDRA:10019904 {source="ORDO:822/e", source="Orphanet:822"}
xref: MESH:D013103 {source="ORDO:822/e", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"}
xref: NCIT:C97074 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:12971"}
xref: Orphanet:822 {source="MONDO:equivalentTo", source="DOID:12971"}
xref: SCTID:55995005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.11", source="DOID:12971"}
xref: UMLS:C0037889 {source="ORDO:822/e", source="NCIT:C97074", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"}
xref: UMLS:CN206031 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020101 {source="Orphanet:822"} ! constitutional hemolytic anemia due to membrane defect
property_value: closeMatch http://identifiers.org/snomedct/154795009
property_value: exactMatch DOID:12971
property_value: exactMatch http://identifiers.org/meddra/10019904
property_value: exactMatch http://identifiers.org/mesh/C536356
property_value: exactMatch http://identifiers.org/mesh/D013103
property_value: exactMatch http://identifiers.org/snomedct/55995005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037889
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206031
property_value: exactMatch NCIT:C97074
property_value: exactMatch Orphanet:822
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis xsd:anyURI {source="GARD:0006639"}

[Term]
id: MONDO:0019351
name: isolated spina bifida
def: "A spina bifida (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:823"}
synonym: "cleft spine" RELATED [GARD:0007673]
synonym: "isolated spina bifida (disease)" EXACT []
synonym: "nonsyndromic spina bifida (disease)" EXACT [MONDO:patterns/isolated]
synonym: "open spine" RELATED [GARD:0007673]
xref: GARD:0007673 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q05.0 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.1 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.2 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.3 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.4 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.5 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.6 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.7 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.8 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: ICD10:Q05.9 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"}
xref: MedDRA:10041524 {source="ORDO:823/e", source="Orphanet:823"}
xref: Orphanet:823 {source="MONDO:equivalentTo"}
is_a: MONDO:0008449 ! spina bifida (disease)
is_a: MONDO:0015219 ! non-syndromic central nervous system malformation
intersection_of: MONDO:0008449 ! spina bifida (disease)
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027794
property_value: exactMatch http://identifiers.org/meddra/10041524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080178
property_value: exactMatch Orphanet:823

[Term]
id: MONDO:0019352
name: obsolete sporotrichosis
is_obsolete: true
replaced_by: MONDO:0005968

[Term]
id: MONDO:0019353
name: Stargardt disease
def: "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." [Orphanet:827]
subset: gard_rare {source="GARD:0000181"}
subset: ordo_disease {source="Orphanet:827"}
synonym: "fundus flavimaculatus" EXACT [Orphanet:827]
synonym: "juvenile onset macular degeneration" RELATED [GARD:0000181]
synonym: "Stargardt 1" EXACT [Orphanet:827]
synonym: "Stargardt disease 1" NARROW [DOID:0050817]
synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181]
xref: DOID:0050817 {source="MONDO:equivalentTo"}
xref: GARD:0000181 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:827/ntbt", source="Orphanet:827", source="ORDO:827/inclusion"}
xref: MedDRA:10062766 {source="ORDO:827/e", source="Orphanet:827"}
xref: NCIT:C85078 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:827 {source="MONDO:equivalentTo"}
xref: SCTID:47673003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.78/0.09"}
xref: UMLS:C0271093 {source="MONDO:equivalentTo", source="ORDO:827/e", source="Orphanet:827", source="NCIT:C85078"}
xref: UMLS:C1855465 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:827"}
is_a: MONDO:0005150 {source="DOID:0050817"} ! age-related macular degeneration
is_a: MONDO:0016420 {source="Orphanet:827"} ! familial flecked retinopathy
property_value: exactMatch DOID:0050817
property_value: exactMatch http://identifiers.org/meddra/10062766
property_value: exactMatch http://identifiers.org/snomedct/47673003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271093
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855465
property_value: exactMatch NCIT:C85078
property_value: exactMatch Orphanet:827
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/181/stargardt-disease xsd:anyURI {source="GARD:0000181"}

[Term]
id: MONDO:0019354
name: Stickler syndrome
def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases)." [Orphanet:828]
comment: Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome
subset: ordo_disease {source="Orphanet:828"}
synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828]
xref: DOID:0080046 {source="MONDO:equivalentTo"}
xref: GARD:0010782 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.0 {source="ORDO:828/attributed", source="ORDO:828/ntbt", source="Orphanet:828"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10063402 {source="ORDO:828/e", source="Orphanet:828"}
xref: NCIT:C74984 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:108300 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:828 {source="MONDO:equivalentTo"}
xref: SCTID:78675000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0265253 {source="MONDO:equivalentTo", source="ORDO:828/e", source="Orphanet:828", source="NCIT:C74984"}
is_a: MONDO:0015218 {source="Orphanet:828"} ! syndromic developmental defect of the eye
is_a: MONDO:0015318 {source="Orphanet:828"} ! Pierre Robin syndrome associated with collagen disease
is_a: MONDO:0016761 {source="Orphanet:828"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0019589 {source="Orphanet:828"} ! syndromic genetic deafness
is_a: MONDO:0020208 {source="Orphanet:828"} ! syndromic myopia
is_a: MONDO:0020222 {source="Orphanet:828"} ! rare disease with glaucoma as a major feature
is_a: MONDO:0020232 {source="Orphanet:828"} ! musculoskeletal disease with cataract
is_a: MONDO:0020248 {source="Orphanet:828"} ! vitreoretinal degeneration
property_value: exactMatch DOID:0080046
property_value: exactMatch http://identifiers.org/meddra/10063402
property_value: exactMatch http://identifiers.org/snomedct/78675000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265253
property_value: exactMatch NCIT:C74984
property_value: exactMatch Orphanet:828

[Term]
id: MONDO:0019355
name: adult-onset Still disease
def: "adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." [Orphanet:829]
comment: Editor note: check if autoimmune
subset: gard_rare {source="GARD:0000436"}
subset: ordo_disease {source="Orphanet:829"}
synonym: "adult onset Still's disease" EXACT [DOID:14256]
synonym: "adult Still's disease" RELATED [GARD:0000436]
synonym: "adult-onset Still disease" EXACT [DOID:14256]
synonym: "adult-onset Still's disease" EXACT [MONDO:0005637]
synonym: "AOSD" EXACT [Orphanet:829]
synonym: "Still's disease adult onset" RELATED [GARD:0000436]
synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829]
xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"}
xref: EFO:0007135 {source="MONDO:equivalentTo"}
xref: GARD:0000436 {source="MONDO:equivalentTo"}
xref: ICD10:M06.1 {source="ORDO:829/e", source="DOID:14256", source="Orphanet:829"}
xref: ICD9:714.2 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058493 {source="ORDO:829/e", source="Orphanet:829"}
xref: MedDRA:10064056 {source="ORDO:829/e", source="Orphanet:829"}
xref: MESH:D016706 {source="MONDO:equivalentTo", source="ORDO:829/e", source="DOID:14256", source="Orphanet:829", source="EFO:0007135"}
xref: Orphanet:829 {source="MONDO:equivalentTo", source="GARD:0000436"}
xref: SCTID:239920006 {source="MONDO:equivalentTo", source="DOID:14256", source="MONDO:kboom-pr-0.92/0.82/0.21"}
xref: SCTID:68190001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0085253 {source="MONDO:equivalentTo", source="ORDO:829/e", source="DOID:14256", source="Orphanet:829", source="MEDGEN:kboom-pr95-c96"}
xref: UMLS:CN206037 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0005578 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthritis
is_a: MONDO:0019724 {source="Orphanet:829"} ! secondary glomerular disease
is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome
relationship: disease_has_feature MONDO:0002258 {source="Wikidata"} ! pharyngitis
relationship: disease_has_feature MONDO:0015540 {source="Wikidata"} ! hemophagocytic syndrome
property_value: closeMatch http://identifiers.org/snomedct/201449008
property_value: closeMatch http://identifiers.org/snomedct/201815006
property_value: exactMatch DOID:14256
property_value: exactMatch http://identifiers.org/meddra/10058493
property_value: exactMatch http://identifiers.org/meddra/10064056
property_value: exactMatch http://identifiers.org/mesh/D014924
property_value: exactMatch http://identifiers.org/mesh/D016706
property_value: exactMatch http://identifiers.org/snomedct/239920006
property_value: exactMatch http://identifiers.org/snomedct/68190001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043195
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085253
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206037
property_value: exactMatch Orphanet:829
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease xsd:anyURI {source="GARD:0000436"}

[Term]
id: MONDO:0019356
name: urogenital tract malformation
subset: ordo_group_of_disorders {source="Orphanet:83001"}
xref: Orphanet:83001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:83001"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015106"} ! rare
property_value: exactMatch Orphanet:83001

[Term]
id: MONDO:0019357
name: congenital narrowing of cervical spinal canal
def: "14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." [Orphanet:831]
subset: ordo_disease {source="Orphanet:831"}
synonym: "congenital cervical spinal stenosis" RELATED [Orphanet:831]
synonym: "congenital stenosis of the cervical spine" EXACT [Orphanet:831]
xref: ICD10:Q06.8 {source="Orphanet:831", source="ORDO:831/ntbt"}
xref: Orphanet:831 {source="MONDO:equivalentTo"}
is_a: MONDO:0015141 {source="Orphanet:831"} ! disorder of medulla oblongata
property_value: exactMatch Orphanet:831

[Term]
id: MONDO:0019358
name: encephalopathy due to sulfite oxidase deficiency
def: "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." [Orphanet:833]
subset: ordo_disease {source="Orphanet:833"}
xref: ICD10:E72.1 {source="Orphanet:833", source="ORDO:833/inclusion", source="ORDO:833/ntbt"}
xref: Orphanet:833 {source="MONDO:equivalentTo"}
xref: SCTID:715980003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275019 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:833"} ! syndromic developmental defect of the eye
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:833"} ! developmental anomaly of metabolic origin
is_a: MONDO:0016399 {source="Orphanet:833"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:833"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
is_a: MONDO:0019222 {source="Orphanet:833"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a: MONDO:0020236 {source="Orphanet:833"} ! lens position anomaly
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/snomedct/715980003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275019
property_value: exactMatch Orphanet:833

[Term]
id: MONDO:0019359
name: Rocky mountain spotted fever
def: "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia . This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." [https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever]
subset: gard_rare {source="GARD:0007585"}
subset: ordo_disease {source="Orphanet:83311"}
synonym: "Brazillian spotted" RELATED [DOID:0050052]
synonym: "Choix" RELATED [DOID:0050052]
synonym: "exanthematic typhus of sao Paulo" RELATED [DOID:0050052]
synonym: "Fiebre maculosa" RELATED [DOID:0050052]
synonym: "Fiebre manchada" RELATED [DOID:0050052]
synonym: "RMSF" RELATED [GARD:0007585]
synonym: "sao Paulo typhus" RELATED [DOID:0050052]
synonym: "So Paulo fever" RELATED [DOID:0050052]
synonym: "Tick typhus" RELATED [DOID:0050052]
synonym: "Tobia fever" RELATED [DOID:0050052]
xref: DOID:0050052 {source="MONDO:equivalentTo"}
xref: GARD:0007585 {source="MONDO:equivalentTo"}
xref: ICD10:A77.0 {source="ORDO:83311/e", source="Orphanet:83311"}
xref: MedDRA:10039207 {source="ORDO:83311/e", source="Orphanet:83311"}
xref: MESH:D012373 {source="ORDO:83311/e", source="Orphanet:83311", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C128410 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:83311 {source="MONDO:equivalentTo"}
xref: SCTID:186772009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035793 {source="ORDO:83311/e", source="NCIT:C128410", source="Orphanet:83311", source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050052", source="MONDOLEX:0019359", source="Orphanet:83311", source="linkedlifedata"} ! spotted fever
property_value: exactMatch DOID:0050052
property_value: exactMatch http://identifiers.org/meddra/10039207
property_value: exactMatch http://identifiers.org/mesh/D012373
property_value: exactMatch http://identifiers.org/snomedct/186772009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035793
property_value: exactMatch NCIT:C128410
property_value: exactMatch Orphanet:83311
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever xsd:anyURI {source="GARD:0007585"}

[Term]
id: MONDO:0019360
name: rickettsialpox
subset: ordo_disease {source="Orphanet:83312"}
synonym: "Rickettsia akari spotted fever" EXACT [DOID:11103]
synonym: "vesicular rickettsiosis" EXACT [DOID:11103, MTHICD9_2006:083.2]
xref: COHD:436035 {source="MONDO:equivalentTo"}
xref: DOID:11103 {source="MONDO:equivalentTo"}
xref: ICD10:A79.1 {source="ORDO:83312/e", source="Orphanet:83312", source="DOID:11103"}
xref: ICD9:083.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11103"}
xref: MedDRA:10039137 {source="ORDO:83312/e", source="Orphanet:83312"}
xref: Orphanet:83312 {source="MONDO:equivalentTo"}
xref: SCTID:75096007 {source="MONDO:kboom-pr-1.00/0.73/5.90", source="MONDO:equivalentTo", source="DOID:11103"}
xref: UMLS:C0035597 {source="ORDO:83312/e", source="Orphanet:83312", source="MONDO:equivalentTo", source="DOID:11103"}
is_a: MONDO:0001195 {source="DOID:11103", source="MONDO:Redundant", source="MONDOLEX:0019360", source="Orphanet:83312", source="linkedlifedata"} ! spotted fever
property_value: exactMatch DOID:11103
property_value: exactMatch http://identifiers.org/meddra/10039137
property_value: exactMatch http://identifiers.org/snomedct/75096007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035597
property_value: exactMatch Orphanet:83312

[Term]
id: MONDO:0019361
name: obsolete boutonneuse fever
is_obsolete: true
replaced_by: MONDO:0005677

[Term]
id: MONDO:0019362
name: epidemic louse-borne typhus
def: "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." [NCIT:C84689]
subset: ordo_disease {source="Orphanet:83314"}
synonym: "epidemic louse-borne typhus" EXACT [NCIT:C84689]
synonym: "epidemic typhus" EXACT [NCIT:C84689]
synonym: "epidemic typhus fever" EXACT [NCIT:C84689]
synonym: "sylvatic typhus" EXACT [DOID:0050480]
synonym: "typhus" BROAD [https://en.wikipedia.org/wiki/Typhus]
xref: DOID:0050480 {source="MONDO:equivalentTo"}
xref: ICD10:A75.0 {source="ORDO:83314/e", source="Orphanet:83314"}
xref: MedDRA:10014979 {source="ORDO:83314/e", source="Orphanet:83314"}
xref: NCIT:C84689 {source="MONDO:equivalentTo"}
xref: Orphanet:83314 {source="MONDO:equivalentTo"}
is_a: MONDO:0001246 {source="DOID:0050480", source="MONDO:Redundant", source="MONDOLEX:0019362", source="Orphanet:83314"} ! typhus
property_value: exactMatch DOID:0050480
property_value: exactMatch http://identifiers.org/meddra/10014979
property_value: exactMatch http://identifiers.org/mesh/D014438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041473
property_value: exactMatch NCIT:C84689
property_value: exactMatch Orphanet:83314

[Term]
id: MONDO:0019363
name: obsolete murine typhus
is_obsolete: true
replaced_by: MONDO:0000330

[Term]
id: MONDO:0019364
name: pseudotyphus of California
def: "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." [Orphanet:83316]
subset: ordo_disease {source="Orphanet:83316"}
xref: ICD10:A79.8 {source="ORDO:83316/ntbt", source="Orphanet:83316"}
xref: Orphanet:83316 {source="MONDO:equivalentTo"}
xref: SCTID:764104003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="Orphanet:83316"} ! spotted fever
property_value: exactMatch http://identifiers.org/snomedct/764104003
property_value: exactMatch Orphanet:83316

[Term]
id: MONDO:0019365
name: scrub typhus
def: "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." [Orphanet:83317]
subset: ordo_disease {source="Orphanet:83317"}
synonym: "chigger-borne rickettsiosis" RELATED [DOID:13371]
synonym: "chigger-borne typhus" RELATED [DOID:13371]
synonym: "Japanese river fever" EXACT [DOID:13371]
synonym: "Kedani fever" EXACT [DOID:13371]
synonym: "Mite-borne rickettsiosis" RELATED [DOID:13371]
synonym: "Mite-borne typhus" RELATED [DOID:13371]
synonym: "scrub (mite-borne) typhus" RELATED [DOID:13371]
synonym: "scrub mite-borne typhus" EXACT [DOID:13371]
synonym: "tropical typhus" RELATED [DOID:13371]
synonym: "tsutsugamushi" EXACT [DOID:13371, MTHICD9_2006:081.2]
synonym: "tsutsugamushi disease" EXACT [DOID:13371, Orphanet:83317]
synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317]
synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371]
xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"}
xref: EFO:0007480 {source="MONDO:equivalentTo"}
xref: ICD10:A75.3 {source="ORDO:83317/e", source="DOID:13371", source="Orphanet:83317"}
xref: ICD9:081.2 {source="MONDO:equivalentTo", source="DOID:13371", source="i2s"}
xref: MedDRA:10039766 {source="ORDO:83317/e", source="Orphanet:83317"}
xref: MESH:D012612 {source="MONDO:equivalentTo", source="ORDO:83317/e", source="DOID:13371", source="EFO:0007480", source="MONDO:ontobio", source="Orphanet:83317"}
xref: Orphanet:83317 {source="MONDO:equivalentTo"}
xref: SCTID:271425001 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo", source="DOID:13371"}
xref: UMLS:C0036472 {source="MONDO:equivalentTo", source="ORDO:83317/e", source="DOID:13371", source="Orphanet:83317"}
is_a: MONDO:0001246 {source="DOID:13371", source="MONDO:Redundant", source="MONDOLEX:0019365"} ! typhus
relationship: excluded_subClassOf MONDO:0005619 {source="EFO:0007480", source="https://github.com/EBISPOT/efo/issues/171"} ! typhoid fever
property_value: closeMatch http://identifiers.org/snomedct/186768005
property_value: closeMatch http://identifiers.org/snomedct/240620004
property_value: closeMatch http://identifiers.org/snomedct/240621000
property_value: closeMatch http://identifiers.org/snomedct/240622007
property_value: closeMatch http://identifiers.org/snomedct/73911003
property_value: exactMatch DOID:13371
property_value: exactMatch http://identifiers.org/meddra/10039766
property_value: exactMatch http://identifiers.org/mesh/D012612
property_value: exactMatch http://identifiers.org/snomedct/271425001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036472
property_value: exactMatch Orphanet:83317

[Term]
id: MONDO:0019366
name: free sialic acid storage disease
def: "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." [Orphanet:834]
subset: ordo_disease {source="Orphanet:834"}
xref: GARD:0010870 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E77.8 {source="Orphanet:834", source="ORDO:834/attributed", source="ORDO:834/ntbt"}
xref: MedDRA:10067529 {source="ORDO:834/e", source="Orphanet:834"}
xref: MedDRA:10067531 {source="ORDO:834/e", source="Orphanet:834"}
xref: MESH:C538523 {source="ORDO:834/e", source="Orphanet:834", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:834 {source="MONDO:equivalentTo"}
xref: UMLS:C2931872 {source="ORDO:834/e", source="Orphanet:834", source="MONDO:equivalentTo"}
xref: UMLS:CN206051 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016397 {source="Orphanet:834"} ! lysosomal disease with epilepsy
is_a: MONDO:0019058 {source="Orphanet:834"} ! neurometabolic disease
is_a: MONDO:0019246 {source="Orphanet:834"} ! inborn disorder of lysosomal amino acid transport
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342853
property_value: exactMatch http://identifiers.org/meddra/10067529
property_value: exactMatch http://identifiers.org/meddra/10067531
property_value: exactMatch http://identifiers.org/mesh/C538523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931872
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206051
property_value: exactMatch Orphanet:834

[Term]
id: MONDO:0019367
name: regional odontodysplasia
def: "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." [Orphanet:83450]
subset: ordo_disease {source="Orphanet:83450"}
synonym: "ghost teeth" EXACT [Orphanet:83450]
xref: ICD10:K00.4 {source="Orphanet:83450", source="ORDO:83450/ntbt"}
xref: MESH:D018126 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:83450 {source="MONDO:equivalentTo"}
xref: SCTID:66063001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
is_a: MONDO:0015603 {source="Orphanet:83450"} ! rare odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/mesh/D018126
property_value: exactMatch http://identifiers.org/snomedct/66063001
property_value: exactMatch Orphanet:83450

[Term]
id: MONDO:0019368
name: florid cemento-osseous dysplasia
def: "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." [Orphanet:83451]
subset: gard_rare {source="GARD:0010173"}
subset: ordo_disease {source="Orphanet:83451"}
synonym: "florid osseous dysplasia" EXACT [Orphanet:83451]
synonym: "focal cemento-osseous dysplasia" EXACT [Orphanet:83451]
synonym: "Gigantiform cementoma" RELATED [GARD:0010173]
xref: GARD:0010173 {source="MONDO:equivalentTo"}
xref: ICD10:D16.4 {source="Orphanet:83451", source="ORDO:83451/ntbt"}
xref: ICD10:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="ORDO:83451/ntbt"}
xref: ICDO:9275/0 {source="NCIT:C8381"}
xref: MESH:C537063 {source="Orphanet:83451", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:83451/e"}
xref: NCIT:C8381 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:83451 {source="MONDO:equivalentTo"}
xref: SCTID:715634002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0555197 {source="Orphanet:83451", source="MONDO:equivalentTo", source="NCIT:C8381", source="ORDO:83451/e"}
is_a: MONDO:0015603 {source="Orphanet:83451"} ! rare odontal or periodontal disorder
property_value: exactMatch http://identifiers.org/mesh/C537063
property_value: exactMatch http://identifiers.org/snomedct/715634002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0555197
property_value: exactMatch NCIT:C8381
property_value: exactMatch Orphanet:83451
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia xsd:anyURI {source="GARD:0010173"}

[Term]
id: MONDO:0019369
name: complex regional pain syndrome
def: "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." [Orphanet:83452]
subset: gard_rare
subset: ordo_disease {source="Orphanet:83452"}
synonym: "Complex regional pain syndromes" EXACT [DOID:3223]
synonym: "CRPS" RELATED [GARD:0004647]
synonym: "reflex sympathetic dystrophy" RELATED [GARD:0004647]
xref: DOID:3223 {source="MONDO:equivalentTo"}
xref: GARD:0004647 {source="MONDO:equivalentTo"}
xref: ICD10:G56.4 {source="Orphanet:83452", source="ORDO:83452/btnt"}
xref: ICD10:M89.0 {source="Orphanet:83452", source="MONDO:superClassOf", source="ORDO:83452/btnt"}
xref: MedDRA:10064332 {source="Orphanet:83452", source="ORDO:83452/e"}
xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="ORDO:83452/e"}
xref: Orphanet:83452 {source="MONDO:equivalentTo", source="GARD:0004647"}
xref: SCTID:128200000 {source="DOID:3223", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0458219 {source="DOID:3223", source="MEDGEN:kboom-pr98-c99", source="Orphanet:83452", source="MONDO:equivalentTo", source="ORDO:83452/e"}
is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome
property_value: exactMatch DOID:3223
property_value: exactMatch http://identifiers.org/meddra/10064332
property_value: exactMatch http://identifiers.org/mesh/D020918
property_value: exactMatch http://identifiers.org/snomedct/128200000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0458219
property_value: exactMatch Orphanet:83452

[Term]
id: MONDO:0019370
name: vulvovaginal gingival syndrome
subset: ordo_disease {source="Orphanet:83453"}
xref: ICD10:L43.8 {source="Orphanet:83453", source="ORDO:83453/ntbt"}
xref: Orphanet:83453 {source="MONDO:equivalentTo"}
xref: SCTID:707250009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3873472 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206058 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015859 {source="Orphanet:83453"} ! rare non-malformative uterovaginal or vulvovaginal disease
is_a: MONDO:0016768 {source="Orphanet:83453"} ! rare mucosal lichen planus
property_value: exactMatch http://identifiers.org/snomedct/707250009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3873472
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206058
property_value: exactMatch Orphanet:83453

[Term]
id: MONDO:0019371
name: narcolepsy without cataplexy
def: "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [Orphanet:83465]
subset: ordo_disease {source="Orphanet:83465"}
xref: EFO:0005855 {source="MONDO:equivalentTo"}
xref: ICD10:G47.4 {source="Orphanet:83465", source="ORDO:83465/ntbt", source="MONDO:directSiblingOf"}
xref: ICD10:G47.419 {source="MONDO:equivalentTo"}
xref: ICD9:347.00 {source="MONDO:subClassOf", source="EFO:0005855"}
xref: Orphanet:83465 {source="MONDO:equivalentTo"}
xref: SCTID:91521000119104 {source="MONDO:equivalentTo", source="EFO:0005855", source="MONDO:kboom-pr-0.89/0.75/0.29"}
xref: UMLS:C1456240 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0021107 {source="linkedlifedata"} ! narcolepsy
relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/91521000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456240
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206062
property_value: exactMatch Orphanet:83465

[Term]
id: MONDO:0019372
name: solitary bone cyst
def: "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." [Orphanet:83468]
comment: Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT
subset: ordo_disease {source="Orphanet:83468"}
synonym: "bone cyst" EXACT [NCIT:C2904]
synonym: "cyst of bone" EXACT [NCIT:C2904]
synonym: "cyst of the bone" EXACT [NCIT:C2904]
synonym: "simple bone cyst" EXACT [NCIT:C2904]
synonym: "solitary cyst" EXACT [NCIT:C2904]
synonym: "unicameral bone cyst" EXACT [Orphanet:83468]
xref: COHD:72421 {source="MONDO:equivalentTo"}
xref: ICD10:M85.4 {source="ORDO:83468/e", source="MONDO:equivalentTo", source="Orphanet:83468"}
xref: ICD9:733.21 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001845 {source="MONDO:equivalentTo"}
xref: NCIT:C2904 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:83468 {source="MONDO:equivalentTo"}
xref: SCTID:203467005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019060 {source="Orphanet:83468"} ! bone neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005937
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4082185
property_value: exactMatch http://identifiers.org/mesh/D001845
property_value: exactMatch http://identifiers.org/snomedct/203467005
property_value: exactMatch NCIT:C2904
property_value: exactMatch Orphanet:83468

[Term]
id: MONDO:0019373
name: desmoplastic small round cell tumor
def: "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." [Orphanet:83469]
subset: gard_rare {source="GARD:0006265"}
subset: ordo_disease {source="Orphanet:83469"}
synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300]
synonym: "Desmoplastic small round cell tumor" EXACT [NCIT:C8300]
synonym: "desmoplastic small round cell tumor" EXACT [NCIT:C8300]
synonym: "Desmoplastic small round-cell neoplasm" EXACT [NCIT:C8300]
synonym: "Desmoplastic small round-cell tumor" EXACT [GARD:0006265, NCIT:C8300]
synonym: "desmoplastic small-round-cell tumor" RELATED [ONCOTREE:DSRCT]
synonym: "DSRCT" EXACT [NCIT:C8300, Orphanet:83469]
synonym: "Polyphenotypic small round cell tumor" EXACT [NCIT:C8300]
xref: EFO:1000895 {source="MONDO:equivalentTo"}
xref: GARD:0006265 {source="MONDO:equivalentTo"}
xref: HGNC:12796 {source="GARD:0006265"}
xref: ICD10:C48.2 {source="ORDO:83469/ntbt", source="Orphanet:83469"}
xref: ICDO:8806/3 {source="NCIT:C8300"}
xref: MedDRA:10064581 {source="ORDO:83469/e", source="Orphanet:83469"}
xref: MedDRA:10064587 {source="EFO:1000895"}
xref: MESH:D058405 {source="ORDO:83469/e", source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469", source="MONDO:ontobio"}
xref: NCIT:C8300 {source="MONDO:equivalentTo", source="EFO:1000895"}
xref: ONCOTREE:DSRCT {source="MONDO:equivalentTo"}
xref: Orphanet:83469 {source="MONDO:equivalentTo"}
xref: UMLS:C0281508 {source="NCIT:C8300", source="ORDO:83469/e", source="MONDO:equivalentTo", source="Orphanet:83469"}
is_a: MONDO:0006974 {source="NCIT:C8300"} ! small cell sarcoma
is_a: MONDO:0015683 {source="Orphanet:83469"} ! primary malignant peritoneal tumor
is_a: MONDO:0018078 {source="NCIT:C8300", source="Orphanet:83469"} ! soft tissue sarcoma
property_value: closeMatch DOID:6785
property_value: closeMatch http://identifiers.org/meddra/10064587
property_value: closeMatch http://identifiers.org/snomedct/128735004
property_value: exactMatch http://identifiers.org/meddra/10064581
property_value: exactMatch http://identifiers.org/mesh/D058405
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281508
property_value: exactMatch NCIT:C8300
property_value: exactMatch Orphanet:83469
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor xsd:anyURI {source="GARD:0006265"}

[Term]
id: MONDO:0019374
name: CAMOS syndrome
def: "CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." [Orphanet:83472]
subset: ordo_malformation_syndrome {source="Orphanet:83472"}
synonym: "CAMOS" RELATED [GARD:0009977]
synonym: "cerebellar ataxia with mental retardation optic atrophy and skin abnormalities" RELATED [GARD:0009977]
synonym: "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" EXACT [Orphanet:83472]
synonym: "SCAR5" EXACT [Orphanet:83472]
synonym: "spinocerebellar ataxia autosomal recessive 5" RELATED [GARD:0009977]
xref: GARD:0009977 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G11.1 {source="Orphanet:83472", source="ORDO:83472/attributed", source="ORDO:83472/ntbt"}
xref: Orphanet:83472 {source="MONDO:equivalentTo"}
xref: SCTID:726031001 {source="MONDO:equivalentTo"}
xref: UMLS:C1847114 {source="Orphanet:83472", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C4511633 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
is_a: MONDO:0018609 {source="Orphanet:83472"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0020043 {source="Orphanet:83472"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/606937
property_value: exactMatch http://identifiers.org/snomedct/726031001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847114
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511633
property_value: exactMatch Orphanet:83472

[Term]
id: MONDO:0019375
name: megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
def: "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." [Orphanet:83473]
subset: ordo_malformation_syndrome {source="Orphanet:83473"}
synonym: "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus" RELATED [GARD:0010341]
synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" RELATED [GARD:0010341]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387]
synonym: "MPPH syndrome" EXACT [Orphanet:83473]
xref: DC:0000669 {source="MONDO:equivalentTo"}
xref: GARD:0010341 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.8 {source="Orphanet:83473", source="ORDO:83473/attributed", source="ORDO:83473/ntbt"}
xref: OMIMPS:603387 {source="MONDO:equivalentTo"}
xref: Orphanet:83473 {source="MONDO:equivalentTo"}
xref: SCTID:722036008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.40"}
is_a: MONDO:0011348 {source="DC:0000669"} ! non-syndromic polydactyly
is_a: MONDO:0015219 ! non-syndromic central nervous system malformation
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0017120 {source="Orphanet:83473"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863924
property_value: exactMatch http://identifiers.org/snomedct/722036008
property_value: exactMatch Orphanet:83473

[Term]
id: MONDO:0019376
name: West-Nile encephalitis
def: "family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." [Orphanet:83476]
subset: ordo_disease {source="Orphanet:83476"}
synonym: "West Nile encephalitis" EXACT [MONDO:0006016]
synonym: "West Nile fever encephalitis" EXACT [DOID:2365, MTHICD9_2006:066.41]
synonym: "West Nile fever with encephalitis" EXACT [DOID:2365, ICD9CM_2006:066.41]
synonym: "West Nile virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "West Nile virus infectious encephalitis" EXACT []
synonym: "West-Nile fever" EXACT [Orphanet:83476]
xref: DOID:2365 {source="EFO:0007545", source="MONDO:equivalentTo"}
xref: EFO:0007545 {source="MONDO:equivalentTo"}
xref: GARD:0009959 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:A92.3 {source="Orphanet:83476", source="ORDO:83476/ntbt"}
xref: ICD10:A92.31 {source="DOID:2365"}
xref: ICD9:066.41 {source="DOID:2365", source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:83476 {source="MONDO:equivalentTo"}
xref: SCTID:392662004 {source="DOID:2365", source="MONDO:kboom-pr-0.92/0.83/0.07", source="MONDO:equivalentTo"}
is_a: MONDO:0002282 ! West Nile fever
is_a: MONDO:0015659 {source="Orphanet:83476"} ! infectious disease with epilepsy
is_a: MONDO:0020601 ! mosquito-borne viral encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043124
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751583
property_value: exactMatch DOID:2365
property_value: exactMatch http://identifiers.org/snomedct/392662004
property_value: exactMatch Orphanet:83476

[Term]
id: MONDO:0019377
name: Mycoplasma encephalitis
def: "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." [Orphanet:83482]
subset: ordo_disease {source="Orphanet:83482"}
synonym: "Mycoplasma pneumoniae caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycoplasma pneumoniae infectious encephalitis" EXACT []
xref: ICD10:B96.0 {source="ORDO:83482/ntbt", source="Orphanet:83482"}
xref: Orphanet:83482 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 ! bacterial infectious disease
is_a: MONDO:0015659 {source="Orphanet:83482"} ! infectious disease with epilepsy
is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83482"} ! infectious encephalitis
property_value: exactMatch Orphanet:83482

[Term]
id: MONDO:0019378
name: la Crosse encephalitis
def: "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." [Orphanet:83483]
subset: ordo_disease {source="Orphanet:83483"}
synonym: "California encephalitis" EXACT [DOID:0050118, MTHICD9_2006:062.5]
synonym: "California virus encephalitis" EXACT [DOID:0050118]
synonym: "Californian encephalitis" EXACT [Orphanet:83483]
synonym: "La Crosse virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "La Crosse virus infectious encephalitis" EXACT []
synonym: "Neuroinvasive California encephalitis virus infection" EXACT [DOID:0050118]
xref: DOID:0050118 {source="MONDO:equivalentTo"}
xref: GARD:0010925 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A83.5 {source="Orphanet:83483", source="DOID:0050118", source="ORDO:83483/ntbt"}
xref: ICD9:062.5 {source="DOID:0050118"}
xref: MedDRA:10014584 {source="Orphanet:83483", source="ORDO:83483/e"}
xref: MESH:D004670 {source="Orphanet:83483", source="MONDO:equivalentTo", source="DOID:0050118", source="MONDO:ontobio", source="ORDO:83483/e"}
xref: Orphanet:83483 {source="MONDO:equivalentTo"}
xref: SCTID:61094002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0014053 {source="Orphanet:83483", source="MONDO:equivalentTo", source="DOID:0050118", source="MEDGEN:kboom-pr92-c96", source="ORDO:83483/e"}
xref: UMLS:C0276379 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr96-c96"}
is_a: MONDO:0015659 {source="Orphanet:83483"} ! infectious disease with epilepsy
is_a: MONDO:0020601 ! mosquito-borne viral encephalitis
is_a: MONDO:0021641 ! Bunyaviridae infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186588007
property_value: closeMatch http://identifiers.org/snomedct/266103004
property_value: closeMatch http://identifiers.org/snomedct/416442006
property_value: closeMatch http://identifiers.org/snomedct/417075004
property_value: closeMatch http://identifiers.org/snomedct/418531007
property_value: closeMatch http://identifiers.org/snomedct/69627004
property_value: exactMatch DOID:0050118
property_value: exactMatch http://identifiers.org/meddra/10014584
property_value: exactMatch http://identifiers.org/mesh/D004670
property_value: exactMatch http://identifiers.org/snomedct/61094002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276379
property_value: exactMatch Orphanet:83483

[Term]
id: MONDO:0019379
name: obsolete st. Louis encephalitis
is_obsolete: true
replaced_by: MONDO:0005969

[Term]
id: MONDO:0019380
name: western equine encephalitis
def: "family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." [Orphanet:83593]
subset: gard_rare {source="GARD:0007888"}
subset: ordo_disease {source="Orphanet:83593"}
synonym: "WEE" RELATED [DOID:10843]
synonym: "Western equine encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Western equine encephalitis virus infectious encephalitis" EXACT []
synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593]
xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"}
xref: EFO:0007546 {source="MONDO:equivalentTo"}
xref: GARD:0007888 {source="MONDO:equivalentTo"}
xref: ICD10:A83.1 {source="Orphanet:83593", source="DOID:10843", source="MONDO:equivalentTo", source="ORDO:83593/ntbt"}
xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10014614 {source="Orphanet:83593", source="ORDO:83593/e"}
xref: MESH:D020241 {source="DOID:10843", source="EFO:0007546", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C85227 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:83593 {source="MONDO:equivalentTo"}
xref: SCTID:47523006 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0153064 {source="NCIT:C85227", source="Orphanet:83593", source="DOID:10843", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005643 ! Alphavirus infectious disease
is_a: MONDO:0015659 {source="Orphanet:83593"} ! infectious disease with epilepsy
is_a: MONDO:0020601 ! mosquito-borne viral encephalitis
property_value: exactMatch DOID:10843
property_value: exactMatch http://identifiers.org/meddra/10014614
property_value: exactMatch http://identifiers.org/mesh/D020241
property_value: exactMatch http://identifiers.org/snomedct/47523006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153064
property_value: exactMatch NCIT:C85227
property_value: exactMatch Orphanet:83593
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis xsd:anyURI {source="GARD:0007888"}

[Term]
id: MONDO:0019381
name: obsolete eastern equine encephalitis
is_obsolete: true
replaced_by: MONDO:0005736

[Term]
id: MONDO:0019382
name: obsolete Colorado tick fever
is_obsolete: true
replaced_by: MONDO:0005708

[Term]
id: MONDO:0019383
name: acute disseminated encephalomyelitis
def: "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." [Orphanet:83597]
subset: gard_rare {source="GARD:0008639"}
subset: ordo_disease {source="Orphanet:83597"}
synonym: "acute disseminated encephalitis" EXACT [CSP2005:0944-4849, CSP2005:2042-4989, DOID:639, Orphanet:83597]
synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, NCIT:C34578]
synonym: "ADE" RELATED [GARD:0008639]
synonym: "ADEM" EXACT [DOID:639, ICD9:323.61, Orphanet:83597]
xref: COHD:374021 {source="MONDO:equivalentTo"}
xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"}
xref: EFO:0007130 {source="MONDO:equivalentTo"}
xref: GARD:0008639 {source="MONDO:equivalentTo"}
xref: ICD10:G04.0 {source="Orphanet:83597", source="ORDO:83597/ntbt"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"}
xref: NCIT:C34578 {source="DOID:639", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:83597 {source="MONDO:equivalentTo"}
xref: SCTID:83942000 {source="DOID:639", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0014059 {source="Orphanet:83597", source="DOID:639", source="MONDO:equivalentTo", source="NCIT:C34578"}
is_a: MONDO:0015659 {source="Orphanet:83597"} ! infectious disease with epilepsy
is_a: MONDO:0016428 {source="Orphanet:83597"} ! multiple sclerosis variant
is_a: MONDO:0020068 {source="Orphanet:83597"} ! postinfectious encephalitis
property_value: exactMatch DOID:639
property_value: exactMatch http://identifiers.org/mesh/D004673
property_value: exactMatch http://identifiers.org/snomedct/83942000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014059
property_value: exactMatch NCIT:C34578
property_value: exactMatch Orphanet:83597
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis xsd:anyURI {source="GARD:0008639"}

[Term]
id: MONDO:0019384
name: encephalitis lethargica
def: "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." [NCIT:C26761]
subset: historic_epidemic
subset: ordo_disease {source="Orphanet:83600"}
synonym: "encephalitis lethargica" EXACT [DOID:5225]
synonym: "epidemic encephalitis" EXACT [NCIT:C34576]
synonym: "lethargic encephalitis" EXACT [http://www.dictionary.com/browse/epidemic-encephalitis]
synonym: "von Economo disease" EXACT [DOID:5225]
synonym: "Von Economo encephalitis" EXACT [Orphanet:83600]
synonym: "von Economo's disease" EXACT [MONDO:0003338]
synonym: "Von Economo’s disease" RELATED [GARD:0006332]
xref: DOID:5225 {source="MONDO:equivalentTo"}
xref: GARD:0006332 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:A85.8 {source="DOID:5225", source="ORDO:83600/ntbt", source="Orphanet:83600"}
xref: ICD9:049.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10052369 {source="ORDO:83600/e", source="Orphanet:83600"}
xref: NCIT:C26761 {source="DOID:5225", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: NCIT:C34576 {source="MONDO:equivalentTo"}
xref: Orphanet:83600 {source="MONDO:equivalentTo"}
xref: SCTID:186499007 {source="DOID:5225", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.21"}
xref: UMLS:C0014040 {source="DOID:5225", source="NCIT:C26761", source="ORDO:83600/e", source="MONDO:equivalentTo", source="Orphanet:83600"}
is_a: MONDO:0006009 {source="NCIT:C26761", source="NCIT:C34576", source="linkedlifedata"} ! viral encephalitis
is_a: MONDO:0015659 {source="Orphanet:83600"} ! infectious disease with epilepsy
is_a: MONDO:0017635 {source="Orphanet:83600"} ! parkinsonian syndrome due to neurodegenerative disease
is_a: MONDO:0020068 {source="Orphanet:83600"} ! postinfectious encephalitis
property_value: closeMatch http://identifiers.org/snomedct/186500003
property_value: closeMatch http://identifiers.org/snomedct/20411005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014055
property_value: exactMatch DOID:5225
property_value: exactMatch http://identifiers.org/meddra/10052369
property_value: exactMatch http://identifiers.org/snomedct/186499007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014040
property_value: exactMatch NCIT:C26761
property_value: exactMatch NCIT:C34576
property_value: exactMatch Orphanet:83600
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica xsd:string {source="GARD:0006332"}

[Term]
id: MONDO:0019385
name: steroid-responsive encephalopathy associated with autoimmune thyroiditis
comment: Editor note: TODO DP for chebi roles
subset: ordo_disease {source="Orphanet:83601"}
synonym: "Hashimoto encephalitis" RELATED [Orphanet:83601]
synonym: "Hashimoto's encephalitis" RELATED [GARD:0008570]
synonym: "Hashimoto's encephalopathy" RELATED [GARD:0008570]
synonym: "SREAT" EXACT [Orphanet:83601]
synonym: "steroid-responsive encephalopathy associated with thyroid disease" BROAD [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html]
xref: GARD:0008570 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G04.8 {source="ORDO:83601/ntbt", source="Orphanet:83601"}
xref: MESH:C535841 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:83601 {source="MONDO:equivalentTo"}
xref: UMLS:C0393639 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:83601"}
is_a: MONDO:0020068 {source="Orphanet:83601"} ! postinfectious encephalitis
is_a: MONDO:0020640 ! autoimmune encephalitis
is_a: MONDO:0100029 {source="http://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy
relationship: disease_arises_from_feature MONDO:0007699 ! Hashimoto thyroiditis
relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:83601"} ! acquired ataxia
relationship: has_modifier MONDO:0021141 {source="Orphanet:83601"} ! acquired
property_value: exactMatch http://identifiers.org/mesh/C535841
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393639
property_value: exactMatch Orphanet:83601

[Term]
id: MONDO:0019386
name: progressive rubella panencephalitis
def: "a neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." [https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis]
subset: ordo_disease {source="Orphanet:83616"}
synonym: "rubella panencephalitis" RELATED []
xref: https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis
xref: ICD10:B06.0+ {source="ORDO:83616/ntbt", source="Orphanet:83616"}
xref: ICD10:G05.1* {source="ORDO:83616/ntbt", source="Orphanet:83616"}
xref: Orphanet:83616 {source="MONDO:equivalentTo"}
xref: SCTID:10082001 {source="MONDO:equivalentTo"}
xref: UMLS:C1305924 {source="MONDO:equivalentTo"}
is_a: MONDO:0015659 {source="Orphanet:83616"} ! infectious disease with epilepsy
is_a: MONDO:0020069 {source="Orphanet:83616"} ! chronic encephalitis
is_a: MONDO:0020648 ! rubella encephalitis
intersection_of: MONDO:0020069 ! chronic encephalitis
intersection_of: disease_arises_from_feature MONDO:0004656 ! rubella
relationship: has_modifier MONDO:0021141 {source="Orphanet:83616"} ! acquired
property_value: exactMatch http://identifiers.org/snomedct/10082001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1305924
property_value: exactMatch Orphanet:83616

[Term]
id: MONDO:0019387
name: macrostomia-preauricular tags-external ophthalmoplegia syndrome
def: "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." [Orphanet:83619]
subset: ordo_malformation_syndrome {source="Orphanet:83619"}
xref: ICD10:Q87.0 {source="ORDO:83619/attributed", source="ORDO:83619/ntbt", source="Orphanet:83619"}
xref: Orphanet:83619 {source="MONDO:equivalentTo"}
xref: UMLS:CN206081 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0043008 {source="Orphanet:83619"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206081
property_value: exactMatch Orphanet:83619

[Term]
id: MONDO:0019388
name: pelvis syndrome
def: "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." [Orphanet:83628]
subset: ordo_malformation_syndrome {source="Orphanet:83628"}
synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" EXACT [Orphanet:83628]
synonym: "lumbar syndrome" RELATED [Orphanet:83628]
synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628]
synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628]
xref: ICD10:Q87.8 {source="ORDO:83628/attributed", source="ORDO:83628/ntbt", source="Orphanet:83628"}
xref: Orphanet:83628 {source="MONDO:equivalentTo"}
xref: SCTID:725138002 {source="MONDO:equivalentTo"}
xref: UMLS:C4510867 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN206083 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015246 {source="Orphanet:83628"} ! syndromic anorectal malformation
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0017120 {source="Orphanet:83628"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0018718 {source="Orphanet:83628"} ! vascular tumor with associated anomalies
is_a: MONDO:0018729 ! genetic vascular tumor
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019299 {source="Orphanet:83628"} ! unclassified genetic skin disorder
is_a: MONDO:0021248 ! nervous system neoplasm
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:83628"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/725138002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510867
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206083
property_value: exactMatch Orphanet:83628

[Term]
id: MONDO:0019389
name: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
def: "gene, known to be involved in oral-facial-digital syndrome." [Orphanet:83648]
subset: ordo_disease {source="Orphanet:83648"}
xref: ICD10:Q87.0 {source="ORDO:83648/attributed", source="ORDO:83648/ntbt", source="Orphanet:83648"}
xref: Orphanet:83648 {source="MONDO:equivalentTo"}
xref: UMLS:CN227624 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:83648"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227624
property_value: exactMatch Orphanet:83648

[Term]
id: MONDO:0019390
name: Susac syndrome
def: "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." [Orphanet:838]
subset: gard_rare {source="GARD:0007713"}
subset: ordo_disease {source="Orphanet:838"}
synonym: "RED-M" EXACT [Orphanet:838]
synonym: "Retinocochleocerebral vasculopathy" EXACT [Orphanet:838]
synonym: "retinopathy-encephalopathy-deafness associated with microangiopathy" EXACT [Orphanet:838]
synonym: "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" RELATED [GARD:0007713]
synonym: "SICRET syndrome" EXACT [Orphanet:838]
synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838]
xref: EFO:1001856 {source="MONDO:equivalentTo"}
xref: GARD:0007713 {source="MONDO:equivalentTo"}
xref: ICD10:I67.7 {source="ORDO:838/ntbt", source="Orphanet:838"}
xref: ICD9:348.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071573 {source="ORDO:838/e", source="Orphanet:838"}
xref: MESH:D055955 {source="MONDO:equivalentTo", source="ORDO:838/e", source="Orphanet:838", source="MONDO:ontobio"}
xref: NCIT:C116363 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:838 {source="MONDO:equivalentTo"}
xref: SCTID:702575003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2717757 {source="NCIT:C116363", source="MONDO:equivalentTo", source="ORDO:838/e", source="Orphanet:838"}
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0002254 {source="MONDOLEX:0019390", source="NCIT:C116363"} ! syndromic disease
is_a: MONDO:0015939 {source="Orphanet:838"} ! systemic autoimmune disease
is_a: MONDO:0020676 {source="Orphanet:838"} ! disease of central nervous system or retinal vasculature
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10071573
property_value: exactMatch http://identifiers.org/mesh/D055955
property_value: exactMatch http://identifiers.org/snomedct/702575003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717757
property_value: exactMatch NCIT:C116363
property_value: exactMatch Orphanet:838
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome xsd:anyURI {source="GARD:0007713"}

[Term]
id: MONDO:0019391
name: Fanconi anemia
def: "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." [Orphanet:84]
subset: clingen
subset: ordo_malformation_syndrome {source="Orphanet:84"}
synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84]
synonym: "Fanconi panmyelopathy" EXACT [DOID:13636]
synonym: "Fanconi's anemia" EXACT [DOID:13636]
synonym: "pancytopenia, congenital" EXACT [NCIT:C62505]
synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505]
synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505]
xref: DOID:13636 {source="MONDO:equivalentTo"}
xref: GARD:0006425 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D61.0 {source="MONDO:subClassOf", source="ORDO:84/inclusion", source="ORDO:84/ntbt", source="Orphanet:84"}
xref: ICD10:D61.09 {source="DOID:13636"}
xref: ICD9:284.09 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10055206 {source="ORDO:84/e", source="Orphanet:84"}
xref: MESH:D005199 {source="DOID:13636", source="MONDO:equivalentTo", source="ORDO:84/e", source="Orphanet:84"}
xref: NCIT:C62505 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: OMIMPS:227650 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: Orphanet:84 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: SCTID:30575002 {source="DOID:13636", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.31"}
xref: UMLS:C0015625 {source="DOID:13636", source="NCIT:C62505", source="MONDO:equivalentTo", source="ORDO:84/e", source="Orphanet:84"}
is_a: MONDO:0000577 ! congenital anemia
is_a: MONDO:0001713 {source="DOID:13636", source="MESH:D005199", source="Orphanet:84", source="linkedlifedata"} ! inherited aplastic anemia
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015945 {source="Orphanet:84"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0017432 {source="Orphanet:84"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:84", source="Orphanet:84/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019289 {source="Orphanet:84"} ! hyperpigmentation of the skin
is_a: MONDO:0019747 {source="Orphanet:84"} ! hematological disorder with renal involvement
is_a: MONDO:0021190 {source="MESH:D005199", source="MONDO:Redundant", source="NCIT:C62505"} ! DNA repair disease
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:84"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch DOID:13636
property_value: exactMatch http://identifiers.org/meddra/10055206
property_value: exactMatch http://identifiers.org/mesh/D005199
property_value: exactMatch http://identifiers.org/snomedct/30575002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015625
property_value: exactMatch NCIT:C62505
property_value: exactMatch Orphanet:84

[Term]
id: MONDO:0019392
name: syringocystadenoma papilliferum
def: "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." [NCIT:C4172]
subset: ordo_disease {source="Orphanet:840"}
synonym: "fistulous vegetative verrucous hydradenoma" EXACT [Orphanet:840]
synonym: "naevus syringocystadenomatosus papilliferus" EXACT [Orphanet:840]
synonym: "papillary Syringadenoma" EXACT [NCIT:C4172]
synonym: "papillary syringadenoma (morphologic abnormality)" EXACT [DOID:5445]
synonym: "papillary Syringadenoma (syringocystadenoma papilliferum)" EXACT [DOID:5445, NCIT:C4172]
synonym: "papillary syringocystadenoma" EXACT [NCIT:C4172]
synonym: "SCAP" EXACT [Orphanet:840]
synonym: "Syringadenoma" EXACT [NCIT:C4172]
synonym: "Syringadenoma papilliferum" EXACT [Orphanet:840]
synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172]
xref: DOID:5445 {source="MONDO:equivalentTo"}
xref: EFO:1000558 {source="MONDO:equivalentTo"}
xref: GARD:0005100 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D23.9 {source="Orphanet:840", source="ORDO:840/ntbt"}
xref: ICDO:8406/0 {source="NCIT:C4172"}
xref: MedDRA:10042926 {source="Orphanet:840", source="ORDO:840/e"}
xref: NCIT:C4172 {source="MONDO:kboom-pr-0.93/0.86/0.06", source="DOID:5445", source="MONDO:equivalentTo", source="EFO:1000558"}
xref: Orphanet:840 {source="MONDO:equivalentTo"}
xref: SCTID:239121009 {source="DOID:5445", source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0406803 {source="NCIT:C4172", source="Orphanet:840", source="DOID:5445", source="MONDO:equivalentTo", source="ORDO:840/e"}
is_a: MONDO:0021110 {source="NCIT:C4172"} ! sweat gland adenoma
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:5445"} ! apocrine sweat gland neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:840"} ! obsolete rare skin tumor or hamartoma
property_value: closeMatch http://identifiers.org/snomedct/8934006
property_value: exactMatch DOID:5445
property_value: exactMatch http://identifiers.org/meddra/10042926
property_value: exactMatch http://identifiers.org/snomedct/239121009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406803
property_value: exactMatch NCIT:C4172
property_value: exactMatch Orphanet:840

[Term]
id: MONDO:0019393
name: idiopathic malabsorption due to bile acid synthesis defects
def: "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." [Orphanet:84065]
subset: ordo_disease {source="Orphanet:84065"}
synonym: "idiopathic bile acid malabsorption" EXACT [Orphanet:84065]
xref: ICD10:K90.8 {source="ORDO:84065/ntbt", source="Orphanet:84065"}
xref: Orphanet:84065 {source="MONDO:equivalentTo"}
is_a: MONDO:0015180 {source="Orphanet:84065"} ! intestinal disease due to fat malabsorption
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0019218 {source="Orphanet:84065"} ! inborn disorder of bile acid synthesis
property_value: exactMatch Orphanet:84065

[Term]
id: MONDO:0019394
name: Senior-Boichis syndrome
def: "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." [Orphanet:84081]
subset: ordo_disease {source="Orphanet:84081"}
synonym: "Boichis disease" EXACT [Orphanet:84081]
synonym: "nephronophthisis-hepatic fibrosis syndrome" EXACT [Orphanet:84081]
xref: Orphanet:84081 {source="MONDO:equivalentTo"}
xref: SCTID:717187000 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo"}
xref: UMLS:CN206093 {source="MONDO:equivalentTo"}
is_a: MONDO:0015962 {source="Orphanet:84081"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:84081"} ! rare renal tubular disease
property_value: exactMatch http://identifiers.org/snomedct/717187000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206093
property_value: exactMatch Orphanet:84081

[Term]
id: MONDO:0019395
name: Hinman syndrome
def: "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." [Orphanet:84085]
subset: ordo_disease {source="Orphanet:84085"}
synonym: "HAS" EXACT [Orphanet:84085]
synonym: "Hinman-Allen syndrome" EXACT [Orphanet:84085]
synonym: "HS" EXACT [Orphanet:84085]
synonym: "non-neurogenic neurogenic bladder" EXACT [Orphanet:84085]
synonym: "occult neuropathic bladder" EXACT [Orphanet:84085]
xref: ICD10:N32.8 {source="ORDO:84085/ntbt", source="Orphanet:84085"}
xref: ICD9:596.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:84085 {source="MONDO:equivalentTo"}
xref: SCTID:429233001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"}
xref: UMLS:C1997362 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN206094 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006026 {source="https://github.com/monarch-initiative/mondo/issues/885"} ! urinary bladder disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015106"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/429233001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997362
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206094
property_value: exactMatch Orphanet:84085

[Term]
id: MONDO:0019396
name: collagen type III glomerulopathy
def: "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." [Orphanet:84087]
subset: ordo_disease {source="Orphanet:84087"}
synonym: "Collagenofibrotic glomerulopathy" EXACT [Orphanet:84087]
xref: ICD10:N07.6 {source="ORDO:84087/ntbt", source="Orphanet:84087"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:84087 {source="MONDO:equivalentTo"}
xref: SCTID:708127008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C3872695 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN206095 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019724 {source="Orphanet:84087"} ! secondary glomerular disease
property_value: exactMatch http://identifiers.org/snomedct/708127008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3872695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206095
property_value: exactMatch Orphanet:84087

[Term]
id: MONDO:0019397
name: unknown leukodystrophy
subset: ordo_disease {source="Orphanet:84096"}
xref: ICD10:E75.2 {source="ORDO:84096/attributed", source="ORDO:84096/ntbt", source="Orphanet:84096"}
xref: Orphanet:84096 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:84096"} ! leukodystrophy
property_value: exactMatch Orphanet:84096

[Term]
id: MONDO:0019398
name: desmin-related myopathy with Mallory body-like inclusions
subset: ordo_disease {source="Orphanet:84132"}
synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132]
xref: ICD10:G71.8 {source="Orphanet:84132", source="ORDO:84132/attributed", source="ORDO:84132/ntbt"}
xref: Orphanet:84132 {source="MONDO:equivalentTo"}
is_a: MONDO:0011271 {source="MONDOLEX:0019398"} ! rigid spine muscular dystrophy 1
is_a: MONDO:0016112 {source="Orphanet:84132"} ! inclusion myopathy
property_value: exactMatch Orphanet:84132

[Term]
id: MONDO:0019399
name: Isaac syndrome
def: "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." [Orphanet:84142]
subset: ordo_disease {source="Orphanet:84142"}
synonym: "acquired neuromyotonia" EXACT [Orphanet:84142]
synonym: "continuous muscle fiber activity syndrome" EXACT [Orphanet:84142]
synonym: "Isaac's-Merten's syndrome" RELATED [GARD:0006793]
synonym: "Isaac-Mertens syndrome" EXACT [Orphanet:84142]
synonym: "Isaacs' syndrome" RELATED [GARD:0006793]
synonym: "neuromyotonia" RELATED [GARD:0006793]
synonym: "peripheral nerve hyperexcitability" EXACT [Orphanet:84142]
synonym: "Quantal squander syndrome" EXACT [Orphanet:84142]
xref: GARD:0006793 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.1 {source="ORDO:84142/ntbt", source="Orphanet:84142"}
xref: Orphanet:84142 {source="MONDO:equivalentTo"}
xref: SCTID:305719002 {source="MONDO:equivalentTo"}
xref: UMLS:C0751919 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="Orphanet:84142"}
xref: UMLS:CN206101 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016375 {source="Orphanet:84142"} ! acquired peripheral movement disorder
is_a: MONDO:0019119 {source="Orphanet:84142"} ! muscular channelopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242287
property_value: exactMatch http://identifiers.org/snomedct/305719002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751919
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206101
property_value: exactMatch Orphanet:84142

[Term]
id: MONDO:0019400
name: obsolete testicular seminomatous germ cell tumor
is_obsolete: true
replaced_by: MONDO:0003669

[Term]
id: MONDO:0019401
name: sporadic idiopathic steroid-resistant nephrotic syndrome
def: "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." [Orphanet:84271]
subset: ordo_clinical_syndrome {source="Orphanet:84271"}
synonym: "sporadic idiopathic nephrosis" EXACT [Orphanet:84271]
xref: ICD10:N04.1 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"}
xref: ICD10:N04.3 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"}
xref: ICD10:N04.8 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"}
xref: Orphanet:84271 {source="MONDO:equivalentTo"}
xref: SCTID:717191005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274017 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018170 {source="Orphanet:84271"} ! idiopathic nephrotic syndrome
is_a: MONDO:0044765 {source="linkedlifedata/inferred"} ! steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/snomedct/717191005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274017
property_value: exactMatch Orphanet:84271

[Term]
id: MONDO:0019402
name: beta thalassemia
def: "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." [Orphanet:848]
subset: ordo_disease {source="Orphanet:848"}
synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871]
synonym: "Beta thalassemia minor" RELATED [GARD:0000871]
synonym: "erythroblastic anemia" RELATED [GARD:0000871]
synonym: "thalassemia major" RELATED [NCIT:C34375]
synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871]
synonym: "Thalassemias, beta-" RELATED [GARD:0000871]
xref: COHD:4278669 {source="MONDO:equivalentTo"}
xref: DOID:12241 {source="MONDO:equivalentTo"}
xref: GARD:0000871 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D56.1 {source="ORDO:848/specific", source="ORDO:848/e", source="DOID:12241", source="Orphanet:848"}
xref: ICD9:282.44 {source="DOID:12241"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043391 {source="ORDO:848/e", source="Orphanet:848"}
xref: MESH:D017086 {source="ORDO:848/e", source="MONDO:equivalentTo", source="DOID:12241", source="Orphanet:848"}
xref: NCIT:C34375 {source="MONDO:kboom-pr-0.87/0.70/0.45", source="MONDO:equivalentTo", source="DOID:12241"}
xref: Orphanet:848 {source="MONDO:equivalentTo", source="DOID:12241"}
xref: SCTID:65959000 {source="MONDO:kboom-pr-0.83/0.64/0.16", source="MONDO:equivalentTo", source="DOID:12241"}
is_a: MONDO:0000984 {source="DOID:12241", source="MESH:D017086", source="NCIT:C34375", source="Orphanet:848/inferred", source="linkedlifedata"} ! thalassemia
is_a: MONDO:0017145 {source="Orphanet:848"} ! beta-thalassemia and related diseases
is_a: MONDO:0019747 {source="Orphanet:848"} ! hematological disorder with renal involvement
is_a: MONDO:0019844 {source="Orphanet:848"} ! pituitary hormone deficiency secondary to storage disease
property_value: closeMatch http://identifiers.org/snomedct/191190000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002875
property_value: exactMatch DOID:12241
property_value: exactMatch http://identifiers.org/meddra/10043391
property_value: exactMatch http://identifiers.org/mesh/D017086
property_value: exactMatch http://identifiers.org/snomedct/65959000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005283
property_value: exactMatch NCIT:C34375
property_value: exactMatch Orphanet:848

[Term]
id: MONDO:0019403
name: congenital dyserythropoietic anemia
def: "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." [Orphanet:85]
subset: ordo_group_of_disorders {source="Orphanet:85"}
synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120]
synonym: "CDA" EXACT [Orphanet:85]
synonym: "congenital dyshaematopoietic anaemia" EXACT [DOID:1338]
synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999]
xref: DOID:1338 {source="MONDO:equivalentTo"}
xref: GARD:0001999 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D64.4 {source="MONDO:equivalentTo", source="ORDO:85/specific", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000742 {source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"}
xref: NCIT:C84646 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:1338"}
xref: OMIMPS:224120 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:85 {source="MONDO:equivalentTo", source="DOID:1338"}
xref: SCTID:52951008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.83/0.91", source="DOID:1338"}
xref: UMLS:C0002876 {source="NCIT:C84646", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"}
is_a: MONDO:0003689 {source="DOID:1338", source="MESH:D000742"} ! familial hemolytic anemia
is_a: MONDO:0017397 {source="Orphanet:85"} ! constitutional dyserythropoietic anemia
property_value: closeMatch http://identifiers.org/snomedct/191272005
property_value: exactMatch DOID:1338
property_value: exactMatch http://identifiers.org/mesh/D000742
property_value: exactMatch http://identifiers.org/snomedct/52951008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002876
property_value: exactMatch NCIT:C84646
property_value: exactMatch Orphanet:85

[Term]
id: MONDO:0019404
name: perineurioma
def: "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." [NCIT:P378]
subset: gard_rare {source="GARD:0012698"}
subset: ordo_group_of_disorders {source="Orphanet:85102"}
synonym: "perineurioma" EXACT [NCIT:C4973]
synonym: "soft tissue perineurioma" EXACT [DOID:4697, NCIT:C6912]
xref: DOID:4697 {source="MONDO:equivalentTo"}
xref: GARD:0012698 {source="MONDO:equivalentTo"}
xref: ICD10:C47.9 {source="Orphanet:85102", source="ORDO:85102/ntbt"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9571/0 {source="NCIT:C4973"}
xref: NCIT:C4973 {source="MONDO:kboom-pr-0.96/0.70/2.55", source="DOID:4697", source="MONDO:equivalentTo"}
xref: Orphanet:85102 {source="MONDO:equivalentTo"}
xref: SCTID:404036006 {source="DOID:4697", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0751691 {source="DOID:4697", source="Orphanet:85102", source="MONDO:equivalentTo", source="NCIT:C4973", source="ORDO:85102/e"}
is_a: MONDO:0002547 {source="DOID:4697", source="NCIT:C4973"} ! nerve sheath neoplasm
is_a: MONDO:0016749 {source="Orphanet:85102"} ! tumor of cranial and spinal nerves
property_value: closeMatch http://identifiers.org/snomedct/128795001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1370657
property_value: closeMatch NCIT:C6912
property_value: exactMatch DOID:4697
property_value: exactMatch http://identifiers.org/snomedct/404036006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751691
property_value: exactMatch NCIT:C4973
property_value: exactMatch Orphanet:85102
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12698/perineurioma xsd:anyURI {source="GARD:0012698"}

[Term]
id: MONDO:0019405
name: facial onset sensory and motor neuronopathy
def: "Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." [Orphanet:85162]
subset: gard_rare {source="GARD:0012036"}
subset: ordo_disease {source="Orphanet:85162"}
synonym: "facial onset sensorimotor neuronopathy syndrome" RELATED [GARD:0012036]
synonym: "facial onset sensory and motor neuronopathy syndrome" RELATED [GARD:0012036]
synonym: "FOSMN syndrome" EXACT [Orphanet:85162]
xref: GARD:0012036 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="ORDO:85162/attributed", source="ORDO:85162/ntbt", source="Orphanet:85162"}
xref: Orphanet:85162 {source="MONDO:equivalentTo"}
xref: SCTID:723306004 {source="MONDO:equivalentTo"}
xref: UMLS:CN206118 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0024237 {source="Orphanet:85162"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/723306004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206118
property_value: exactMatch Orphanet:85162
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy xsd:anyURI {source="GARD:0012036"}

[Term]
id: MONDO:0019406
name: craniofacial conodysplasia
def: "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." [Orphanet:85168]
subset: ordo_malformation_syndrome {source="Orphanet:85168"}
xref: ICD10:Q87.5 {source="Orphanet:85168", source="ORDO:85168/attributed", source="ORDO:85168/ntbt"}
xref: Orphanet:85168 {source="MONDO:equivalentTo"}
is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia
property_value: exactMatch Orphanet:85168

[Term]
id: MONDO:0019407
name: microcephalic osteodysplastic dysplasia, Saul-Wilson type
def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30290151] {http://purl.org/dc/elements/1.1/type="ECO:0007645"}
subset: ordo_disease {source="Orphanet:85172"}
synonym: "microcephalic osteodysplastic dysplasia" EXACT [OMIM:618150]
synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673]
synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146]
synonym: "Saul-Wilson syndrome; SWILS" EXACT [OMIM:618150]
synonym: "SWILS" EXACT [DOID:0111673, OMIM:618150]
xref: DOID:0111673 {source="MONDO:equivalentTo"}
xref: ICD10:Q78.8 {source="ORDO:85172/attributed", source="ORDO:85172/ntbt", source="Orphanet:85172"}
xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"}
xref: ORDO:85172 {source="DOID:0111673"}
xref: Orphanet:85172 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="DOID:0111673"} ! autosomal dominant disease
is_a: MONDO:0017950 {source="Orphanet:85172"} ! microcephalic primordial dwarfism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1300285
property_value: exactMatch DOID:0111673
property_value: exactMatch http://identifiers.org/omim/618150
property_value: exactMatch Orphanet:85172

[Term]
id: MONDO:0019408
name: Astley-Kendall dysplasia
def: "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." [Orphanet:85175]
subset: ordo_malformation_syndrome {source="Orphanet:85175"}
synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220]
synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220]
xref: GARD:0009220 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="ORDO:85175/attributed", source="ORDO:85175/ntbt", source="Orphanet:85175"}
xref: MESH:C535392 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:85175 {source="MONDO:equivalentTo"}
xref: SCTID:389263004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1300228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:85175"}
is_a: MONDO:0019701 {source="MESH:C535392", source="Orphanet:85175"} ! chondrodysplasia punctata
property_value: exactMatch http://identifiers.org/mesh/C535392
property_value: exactMatch http://identifiers.org/snomedct/389263004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300228
property_value: exactMatch Orphanet:85175

[Term]
id: MONDO:0019409
name: idiopathic juvenile osteoporosis
def: "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." [Orphanet:85193]
subset: ordo_malformation_syndrome {source="Orphanet:85193"}
synonym: "idiopathic juvenile osteoporosis" EXACT [OMIM:259750]
synonym: "idiopathic osteoporosis" EXACT [DOID:12559]
synonym: "Ijo" EXACT [Orphanet:85193]
synonym: "juvenile osteoporosis" EXACT [DOID:12559, Orphanet:85193]
synonym: "osteoporosis, juvenile" RELATED [OMIM:259750]
synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996]
xref: DOID:12559 {source="MONDO:equivalentTo"}
xref: GARD:0006760 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:M81.5 {source="ORDO:85193/attributed", source="ORDO:85193/ntbt", source="Orphanet:85193"}
xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C537700 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119996 {source="MONDO:equivalentTo"}
xref: OMIM:259750 {source="DOID:12559", source="ORDO:85193/btnt", source="MONDO:equivalentTo", source="Orphanet:85193"}
xref: Orphanet:85193 {source="OMIM:259750", source="MONDO:equivalentTo"}
xref: SCTID:3345002 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN536248 {source="MONDO:equivalentTo"}
is_a: MONDO:0005298 {source="DC-OMIM:259750", source="DOID:12559", source="MESH:C537700", source="NCIT:C119996", source="linkedlifedata"} ! osteoporosis
is_a: MONDO:0005554 {source="Orphanet:85193"} ! rheumatologic disorder
is_a: MONDO:0019704 {source="Orphanet:85193"} ! primary bone dysplasia with decreased bone density
property_value: broadMatch http://identifiers.org/omim/615221
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158447
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0264080
property_value: exactMatch DOID:12559
property_value: exactMatch http://identifiers.org/mesh/C537700
property_value: exactMatch http://identifiers.org/omim/259750
property_value: exactMatch http://identifiers.org/snomedct/3345002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN536248
property_value: exactMatch NCIT:C119996
property_value: exactMatch Orphanet:85193

[Term]
id: MONDO:0019410
name: nodulosis-arthropathy-osteolysis syndrome
subset: ordo_clinical_subtype {source="Orphanet:85196"}
synonym: "multicentric osteolysis-nodulosis-arthropathy syndrome" EXACT [Orphanet:85196]
synonym: "NAO syndrome" EXACT [Orphanet:85196]
xref: ICD10:M89.5 {source="ORDO:85196/attributed", source="ORDO:85196/ntbt", source="Orphanet:85196"}
xref: Orphanet:85196 {source="MONDO:equivalentTo"}
xref: UMLS:CN206138 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018298 {source="Orphanet:85196"} ! multicentric osteolysis-nodulosis-arthropathy spectrum
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206138
property_value: exactMatch Orphanet:85196

[Term]
id: MONDO:0019411
name: genochondromatosis type 1
def: "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." [Orphanet:85197]
subset: ordo_disease {source="Orphanet:85197"}
xref: ICD10:Q78.4 {source="ORDO:85197/attributed", source="ORDO:85197/ntbt", source="Orphanet:85197"}
xref: Orphanet:85197 {source="MONDO:equivalentTo"}
is_a: MONDO:0007653 ! genochondromatosis
is_a: MONDO:0019708 {source="Orphanet:85197"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch Orphanet:85197

[Term]
id: MONDO:0019412
name: dysspondyloenchondromatosis
def: "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." [Orphanet:85198]
subset: ordo_malformation_syndrome {source="Orphanet:85198"}
xref: ICD10:Q78.4 {source="ORDO:85198/attributed", source="ORDO:85198/ntbt", source="Orphanet:85198"}
xref: Orphanet:85198 {source="MONDO:equivalentTo"}
xref: SCTID:722434004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C4302548 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:85198"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/snomedct/722434004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4302548
property_value: exactMatch Orphanet:85198

[Term]
id: MONDO:0019413
name: ischio-vertebral syndrome
def: "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." [Orphanet:85200]
subset: ordo_malformation_syndrome {source="Orphanet:85200"}
synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200]
synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200]
xref: ICD10:Q77.8 {source="Orphanet:85200", source="ORDO:85200/attributed", source="ORDO:85200/ntbt"}
xref: Orphanet:85200 {source="MONDO:equivalentTo"}
xref: SCTID:715654001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274732 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206143 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019711 {source="Orphanet:85200"} ! dysostosis with predominant vertebral and costal involvement
property_value: exactMatch http://identifiers.org/snomedct/715654001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206143
property_value: exactMatch Orphanet:85200

[Term]
id: MONDO:0019414
name: BRESEK syndrome
def: "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." [Orphanet:85284]
subset: ordo_malformation_syndrome {source="Orphanet:85284"}
synonym: "BRESHECK syndrome" EXACT [Orphanet:85284]
xref: ICD10:Q87.8 {source="ORDO:85284/attributed", source="ORDO:85284/ntbt", source="Orphanet:85284"}
xref: MESH:C564519 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:85284 {source="MONDO:equivalentTo"}
xref: SCTID:717945001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C3502469 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:85284"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0010624 ! IFAP/BRESHECK syndrome
is_a: MONDO:0015159 {source="Orphanet:85284"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85284"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C564519
property_value: exactMatch http://identifiers.org/snomedct/717945001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502469
property_value: exactMatch Orphanet:85284

[Term]
id: MONDO:0019415
name: fetal and neonatal alloimmune thrombocytopenia
def: "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count ( thrombocytopenia ) and signs of bleeding into the skin such as petechiae and purpura . In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG) . Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids ." [https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia]
subset: gard_rare {source="GARD:0002295"}
subset: ordo_disease {source="Orphanet:853"}
synonym: "NAIT" EXACT [Orphanet:853]
xref: GARD:0002295 {source="MONDO:equivalentTo"}
xref: ICD10:P61.0 {source="MONDO:relatedTo", source="Orphanet:853", source="ORDO:853/ntbt"}
xref: Orphanet:853 {source="MONDO:equivalentTo"}
xref: SCTID:240305000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.85"}
is_a: MONDO:0016631 {source="Orphanet:853"} ! hemorrhagic disorder due to an acquired platelet anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3853779
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3854603
property_value: exactMatch http://identifiers.org/snomedct/240305000
property_value: exactMatch Orphanet:853
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia xsd:anyURI {source="GARD:0002295"}

[Term]
id: MONDO:0019416
name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
def: "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." [Orphanet:85317]
subset: ordo_malformation_syndrome {source="Orphanet:85317"}
xref: ICD10:Q87.8 {source="ORDO:85317/attributed", source="ORDO:85317/ntbt", source="Orphanet:85317"}
xref: Orphanet:85317 {source="MONDO:equivalentTo"}
xref: UMLS:CN206172 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85317"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85317"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206172
property_value: exactMatch Orphanet:85317

[Term]
id: MONDO:0019417
name: X-linked intellectual disability-precocious puberty-obesity syndrome
def: "X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." [Orphanet:85318]
subset: ordo_malformation_syndrome {source="Orphanet:85318"}
xref: ICD10:Q87.8 {source="ORDO:85318/attributed", source="ORDO:85318/ntbt", source="Orphanet:85318"}
xref: Orphanet:85318 {source="MONDO:equivalentTo"}
xref: UMLS:CN227629 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85318"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227629
property_value: exactMatch Orphanet:85318

[Term]
id: MONDO:0019418
name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
def: "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." [Orphanet:85319]
subset: ordo_malformation_syndrome {source="Orphanet:85319"}
xref: ICD10:Q87.8 {source="ORDO:85319/attributed", source="ORDO:85319/ntbt", source="Orphanet:85319"}
xref: Orphanet:85319 {source="MONDO:equivalentTo"}
xref: UMLS:CN206173 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85319"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85319"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206173
property_value: exactMatch Orphanet:85319

[Term]
id: MONDO:0019419
name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
def: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." [Orphanet:85320]
subset: ordo_malformation_syndrome {source="Orphanet:85320"}
synonym: "Johnson syndrome" EXACT [Orphanet:85320]
xref: ICD10:Q87.8 {source="Orphanet:85320", source="ORDO:85320/attributed", source="ORDO:85320/ntbt"}
xref: Orphanet:85320 {source="MONDO:equivalentTo"}
xref: SCTID:719825000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.27"}
xref: UMLS:CN206174 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85320"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/719825000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206174
property_value: exactMatch Orphanet:85320

[Term]
id: MONDO:0019420
name: X-linked intellectual disability, Pai type
def: "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." [Orphanet:85322]
subset: ordo_malformation_syndrome {source="Orphanet:85322"}
xref: ICD10:Q87.8 {source="Orphanet:85322", source="ORDO:85322/attributed", source="ORDO:85322/ntbt"}
xref: Orphanet:85322 {source="MONDO:equivalentTo"}
xref: SCTID:719011002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:CN206176 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85322"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/719011002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206176
property_value: exactMatch Orphanet:85322

[Term]
id: MONDO:0019421
name: X-linked intellectual disability, Seemanova type
def: "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." [Orphanet:85323]
subset: ordo_disease {source="Orphanet:85323"}
xref: ICD10:Q87.8 {source="Orphanet:85323", source="ORDO:85323/attributed", source="ORDO:85323/ntbt"}
xref: Orphanet:85323 {source="MONDO:equivalentTo"}
xref: SCTID:718897009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:CN227630 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85323"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/718897009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227630
property_value: exactMatch Orphanet:85323

[Term]
id: MONDO:0019422
name: X-linked intellectual disability, Stevenson type
def: ", a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." [Orphanet:85325]
subset: ordo_malformation_syndrome {source="Orphanet:85325"}
xref: ICD10:Q87.8 {source="Orphanet:85325", source="ORDO:85325/attributed", source="ORDO:85325/ntbt"}
xref: Orphanet:85325 {source="MONDO:equivalentTo"}
xref: SCTID:718909001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:CN206178 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85325"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85325"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/718909001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206178
property_value: exactMatch Orphanet:85325

[Term]
id: MONDO:0019423
name: X-linked intellectual disability, Stoll type
def: "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." [Orphanet:85326]
subset: ordo_malformation_syndrome {source="Orphanet:85326"}
xref: ICD10:Q87.8 {source="Orphanet:85326", source="ORDO:85326/attributed", source="ORDO:85326/ntbt"}
xref: Orphanet:85326 {source="MONDO:equivalentTo"}
xref: SCTID:718911005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:CN206179 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85326"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85326"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/718911005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206179
property_value: exactMatch Orphanet:85326

[Term]
id: MONDO:0019424
name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
def: "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." [Orphanet:85327]
subset: ordo_disease {source="Orphanet:85327"}
xref: ICD10:Q87.8 {source="ORDO:85327/attributed", source="ORDO:85327/ntbt", source="Orphanet:85327"}
xref: Orphanet:85327 {source="MONDO:equivalentTo"}
xref: UMLS:CN227631 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85327"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227631
property_value: exactMatch Orphanet:85327

[Term]
id: MONDO:0019425
name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
def: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22." [Orphanet:85329]
subset: ordo_malformation_syndrome {source="Orphanet:85329"}
xref: ICD10:Q87.8 {source="ORDO:85329/attributed", source="ORDO:85329/ntbt", source="Orphanet:85329"}
xref: Orphanet:85329 {source="MONDO:equivalentTo"}
xref: UMLS:CN206181 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85329"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206181
property_value: exactMatch Orphanet:85329

[Term]
id: MONDO:0019426
name: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
def: "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." [Orphanet:85330]
subset: ordo_disease {source="Orphanet:85330"}
synonym: "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" RELATED [GARD:0012489]
xref: GARD:0012489 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.8 {source="ORDO:85330/attributed", source="ORDO:85330/ntbt", source="Orphanet:85330"}
xref: Orphanet:85330 {source="MONDO:equivalentTo"}
xref: UMLS:CN206182 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017122 {source="Orphanet:85330"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0020119 {source="Orphanet:85330"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206182
property_value: exactMatch Orphanet:85330

[Term]
id: MONDO:0019427
name: X-linked neurodegenerative syndrome, Bertini type
def: "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." [Orphanet:85334]
subset: ordo_disease {source="Orphanet:85334"}
xref: ICD10:G31.8 {source="Orphanet:85334", source="ORDO:85334/attributed", source="ORDO:85334/ntbt"}
xref: Orphanet:85334 {source="MONDO:equivalentTo"}
xref: SCTID:718849008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:CN206185 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85334"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85334"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/718849008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206185
property_value: exactMatch Orphanet:85334

[Term]
id: MONDO:0019428
name: fried syndrome
def: "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." [Orphanet:85335]
subset: ordo_malformation_syndrome {source="Orphanet:85335"}
xref: ICD10:Q87.8 {source="Orphanet:85335", source="ORDO:85335/attributed", source="ORDO:85335/ntbt"}
xref: Orphanet:85335 {source="MONDO:equivalentTo"}
xref: SCTID:718848000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.69/1.09"}
xref: UMLS:C4305134 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206186 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:85335"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85335"} ! X-linked syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/snomedct/718848000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206186
property_value: exactMatch Orphanet:85335

[Term]
id: MONDO:0019429
name: X-linked neurodegenerative syndrome, Hamel type
def: "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." [Orphanet:85336]
subset: ordo_disease {source="Orphanet:85336"}
xref: ICD10:G31.8 {source="Orphanet:85336", source="ORDO:85336/attributed", source="ORDO:85336/ntbt"}
xref: Orphanet:85336 {source="MONDO:equivalentTo"}
xref: SCTID:718847005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:CN206187 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:85336"} ! X-linked syndromic intellectual disability
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85336"} ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/718847005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206187
property_value: exactMatch Orphanet:85336

[Term]
id: MONDO:0019430
name: X-linked intellectual disability-ataxia-apraxia syndrome
def: "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." [Orphanet:85338]
subset: ordo_disease {source="Orphanet:85338"}
xref: ICD10:G31.8 {source="ORDO:85338/attributed", source="ORDO:85338/ntbt", source="Orphanet:85338"}
xref: Orphanet:85338 {source="MONDO:equivalentTo"}
xref: UMLS:CN227633 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016612 {source="Orphanet:85338"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="Orphanet:85338"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227633
property_value: exactMatch Orphanet:85338

[Term]
id: MONDO:0019431
name: primitive portal vein thrombosis
def: "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." [Orphanet:854]
subset: ordo_clinical_syndrome {source="Orphanet:854"}
synonym: "non-cirrhotic portal vein thrombosis" EXACT [Orphanet:854]
xref: ICD10:I81 {source="ORDO:854/e", source="Orphanet:854", source="MONDO:relatedTo"}
xref: MedDRA:10036206 {source="ORDO:854/e", source="Orphanet:854"}
xref: Orphanet:854 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10036206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155773
property_value: exactMatch Orphanet:854

[Term]
id: MONDO:0019432
name: rheumatoid factor-negative juvenile idiopathic arthritis
def: "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." [Orphanet:85408]
subset: ordo_disease {source="Orphanet:85408"}
synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408]
synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408]
synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408]
xref: ICD10:M08.3 {source="ORDO:85408/ntbt", source="Orphanet:85408"}
xref: Orphanet:85408 {source="MONDO:equivalentTo"}
is_a: MONDO:0017259 {source="Orphanet:85408"} ! systemic diseases with anterior uveitis
is_a: MONDO:0018456 {source="Orphanet:85408"} ! polyarticular juvenile idiopathic arthritis
property_value: exactMatch Orphanet:85408

[Term]
id: MONDO:0019433
name: oligoarticular juvenile idiopathic arthritis
def: "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." [Orphanet:85410]
subset: ordo_disease {source="Orphanet:85410"}
synonym: "Oligoarticular JIA" EXACT [Orphanet:85410]
synonym: "Pauciarticular chronic arthritis" EXACT [Orphanet:85410]
synonym: "Pauciarticular JIA" EXACT [NCIT:C119032]
synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032]
xref: EFO:1002019 {source="MONDO:equivalentTo"}
xref: GARD:0004261 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="ORDO:85410/e"}
xref: MESH:C536312 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C119032 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:85410 {source="MONDO:equivalentTo"}
xref: UMLS:C2931171 {source="Orphanet:85410", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C3898105 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C119032"}
is_a: MONDO:0011429 {source="MESH:C536312", source="NCIT:C119032", source="Orphanet:85410"} ! juvenile idiopathic arthritis
is_a: MONDO:0017259 {source="Orphanet:85410"} ! systemic diseases with anterior uveitis
property_value: exactMatch http://identifiers.org/mesh/C536312
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931171
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898105
property_value: exactMatch NCIT:C119032
property_value: exactMatch Orphanet:85410

[Term]
id: MONDO:0019434
name: systemic-onset juvenile idiopathic arthritis
def: "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." [Orphanet:85414]
subset: gard_rare {source="GARD:0010966"}
subset: ordo_disease {source="Orphanet:85414"}
synonym: "sJIA" EXACT [NCIT:C119031]
synonym: "SoJIA" EXACT [PMID:23827249]
synonym: "Still disease" EXACT [Orphanet:85414]
synonym: "Still's disease (formerly)" RELATED [GARD:0010966]
synonym: "systemic juvenile idiopathic arthritis" RELATED [GARD:0010966]
synonym: "systemic onset juvenile idiopathic arthritis" RELATED [GARD:0010966]
synonym: "systemic onset juvenile rheumatoid arthritis" RELATED [GARD:0010966]
synonym: "systemic polyarthritis" EXACT [Orphanet:85414]
synonym: "systemic-onset JIA" EXACT [Orphanet:85414]
xref: EFO:1001999 {source="MONDO:equivalentTo"}
xref: GARD:0010966 {source="MONDO:equivalentTo"}
xref: ICD10:M08.2 {source="ORDO:85414/e", source="Orphanet:85414"}
xref: NCIT:C119031 {source="MONDO:equivalentTo"}
xref: Orphanet:85414 {source="MONDO:equivalentTo"}
xref: SCTID:201796004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.02"}
is_a: MONDO:0011429 {source="NCIT:C119031", source="Orphanet:85414", source="linkedlifedata"} ! juvenile idiopathic arthritis
is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0087031
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384600
property_value: exactMatch http://identifiers.org/snomedct/201796004
property_value: exactMatch NCIT:C119031
property_value: exactMatch Orphanet:85414
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis xsd:anyURI {source="GARD:0010966"}

[Term]
id: MONDO:0019435
name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." [NCIT:C119034]
subset: ordo_disease {source="Orphanet:85435"}
synonym: "juvenile idiopathic rheumatoid factor-positive polyarthritis" EXACT [Orphanet:85435]
synonym: "polyarthritis with rheumatoid factor" EXACT [Orphanet:85435]
synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034]
synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034]
synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034]
synonym: "rheumatoid factor-positive polyarticular JIA" EXACT [Orphanet:85435]
xref: ICD10:M08.0 {source="Orphanet:85435", source="ORDO:85435/ntbt"}
xref: NCIT:C119034 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: Orphanet:85435 {source="MONDO:equivalentTo"}
xref: UMLS:C3890733 {source="NCIT:C119034", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0018456 {source="MONDOLEX:0019435", source="Orphanet:85435"} ! polyarticular juvenile idiopathic arthritis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890733
property_value: exactMatch NCIT:C119034
property_value: exactMatch Orphanet:85435

[Term]
id: MONDO:0019436
name: psoriasis-related juvenile idiopathic arthritis
def: "Childhood arthritis typically associated with psoriasis." [NCIT:P378]
subset: ordo_disease {source="Orphanet:85436"}
synonym: "JPsA" EXACT [NCIT:C114361]
synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436]
synonym: "psoriasis-related JIA" EXACT [Orphanet:85436]
xref: GARD:0010970 {source="MONDO:equivalentTo"}
xref: ICD10:L40.5+ {source="Orphanet:85436", source="ORDO:85436/ntbt"}
xref: ICD10:M09.0* {source="Orphanet:85436", source="ORDO:85436/ntbt"}
xref: NCIT:C114361 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:85436 {source="MONDO:equivalentTo"}
xref: SCTID:239802003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.60"}
is_a: MONDO:0011429 {source="Orphanet:85436", source="linkedlifedata"} ! juvenile idiopathic arthritis
is_a: MONDO:0011849 {source="NCIT:C114361"} ! psoriatic arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714758
property_value: exactMatch http://identifiers.org/snomedct/239802003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409672
property_value: exactMatch NCIT:C114361
property_value: exactMatch Orphanet:85436

[Term]
id: MONDO:0019437
name: enthesitis-related juvenile idiopathic arthritis
def: "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy ." [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis]
subset: gard_rare {source="GARD:0010969"}
subset: ordo_malformation_syndrome {source="Orphanet:85438"}
synonym: "enthesitis related arthritis, juvenile" RELATED [GARD:0010969]
synonym: "enthesitis-related arthritis" RELATED [GARD:0010969]
synonym: "enthesitis-related JIA" EXACT [Orphanet:85438]
synonym: "era" EXACT [Orphanet:85438]
synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969]
synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969]
xref: GARD:0010969 {source="MONDO:equivalentTo"}
xref: ICD10:M08.8 {source="ORDO:85438/ntbt", source="Orphanet:85438"}
xref: NCIT:C119024 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:85438 {source="MONDO:equivalentTo"}
xref: SCTID:410801005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.49"}
is_a: MONDO:0011429 {source="Orphanet:85438", source="linkedlifedata"} ! juvenile idiopathic arthritis
is_a: MONDO:0017259 {source="Orphanet:85438"} ! systemic diseases with anterior uveitis
relationship: disease_has_feature MONDO:0024419 ! enthesitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495919
property_value: exactMatch http://identifiers.org/snomedct/410801005
property_value: exactMatch NCIT:C119024
property_value: exactMatch Orphanet:85438
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis xsd:anyURI {source="GARD:0010969"}

[Term]
id: MONDO:0019438
name: AL amyloidosis
def: "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ." [Orphanet:85443]
subset: gard_rare
subset: ordo_disease {source="Orphanet:85443"}
synonym: "amyloidosis AL" RELATED [GARD:0005797]
synonym: "amyloidosis primary systemic" RELATED [GARD:0005797]
synonym: "Light chain amyloidosis" RELATED [GARD:0005797]
synonym: "Light-chain amyloidosis" EXACT [Orphanet:85443]
synonym: "primary AL amyloidosis" RELATED [GARD:0005797]
synonym: "primary amyloidosis" EXACT [Orphanet:85443]
synonym: "primary amyloidosis (formerly)" RELATED [GARD:0005797]
synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797]
synonym: "primary systemic amyloidosis" RELATED [GARD:0005797]
synonym: "systemic AL amyloidsis" RELATED [GARD:0005797]
xref: GARD:0005797 {source="MONDO:equivalentTo"}
xref: ICD10:E85.9 {source="Orphanet:85443", source="ORDO:85443/index", source="ORDO:85443/ntbt"}
xref: MedDRA:10036673 {source="Orphanet:85443", source="ORDO:85443/e"}
xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:85443/e"}
xref: Orphanet:85443 {source="MONDO:equivalentTo"}
xref: UMLS:C0268381 {source="Orphanet:85443", source="MONDO:equivalentTo", source="ORDO:85443/e", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0016179 {source="Orphanet:85443"} ! acquired amyloid peripheral neuropathy
is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy
is_a: MONDO:0016345 {source="Orphanet:85443"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis (disease)
is_a: MONDO:0019724 {source="Orphanet:85443"} ! secondary glomerular disease
property_value: exactMatch http://identifiers.org/meddra/10036673
property_value: exactMatch http://identifiers.org/mesh/C531616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268381
property_value: exactMatch Orphanet:85443

[Term]
id: MONDO:0019439
name: AA amyloidosis
def: "Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." [Orphanet:85445]
subset: gard_rare {source="GARD:0010560"}
subset: ordo_disease {source="Orphanet:85445"}
synonym: "amyloid A amyloidosis" RELATED [GARD:0010560]
synonym: "amyloidosis AA" RELATED [GARD:0010560]
synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445]
synonym: "reactive amyloidosis" EXACT [Orphanet:85445]
synonym: "secondary amyloidosis" EXACT [Orphanet:85445]
xref: GARD:0010560 {source="MONDO:equivalentTo"}
xref: ICD10:E85.3 {source="ORDO:85445/e", source="Orphanet:85445"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10039811 {source="ORDO:85445/e", source="Orphanet:85445"}
xref: NCIT:C3818 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:85445 {source="MONDO:equivalentTo"}
xref: SCTID:281034005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.84/0.20"}
xref: UMLS:C0221014 {source="ORDO:85445/e", source="NCIT:C3818", source="Orphanet:85445", source="MONDO:equivalentTo"}
xref: UMLS:C3536715 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0016179 {source="Orphanet:85445"} ! acquired amyloid peripheral neuropathy
is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease)
is_a: MONDO:0019724 {source="Orphanet:85445"} ! secondary glomerular disease
property_value: exactMatch http://identifiers.org/meddra/10039811
property_value: exactMatch http://identifiers.org/snomedct/281034005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536715
property_value: exactMatch NCIT:C3818
property_value: exactMatch Orphanet:85445
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa xsd:anyURI {source="GARD:0010560"}

[Term]
id: MONDO:0019440
name: wild type ABeta2M amyloidosis
subset: gard_rare
subset: ordo_disease {source="Orphanet:85446"}
synonym: "ABeta2Mwt amyloidosis" EXACT [Orphanet:85446]
synonym: "amyloidosis beta2m" RELATED [GARD:0010563]
synonym: "amyloidosis dialysis-related" RELATED [GARD:0010563]
synonym: "Beta-2-microglobulin amyloidosis" RELATED [GARD:0010563]
synonym: "dialysis-related amyloidosis" EXACT [GARD:0010563, Orphanet:85446]
synonym: "dialysis-related arthropathy" EXACT [Orphanet:85446]
synonym: "DRA" RELATED [GARD:0010563]
synonym: "wild type ABeta2-microglobulinic amyloidosis" EXACT [Orphanet:85446]
xref: GARD:0010563 {source="MONDO:equivalentTo"}
xref: ICD10:E85.3 {source="Orphanet:85446", source="ORDO:85446/ntbt"}
xref: Orphanet:85446 {source="MONDO:equivalentTo"}
xref: SCTID:32599008 {source="MONDO:equivalentTo"}
xref: UMLS:CN206197 {source="MONDO:equivalentTo"}
is_a: MONDO:0018590 {source="MONDOLEX:0019440", source="Orphanet:85446"} ! ABeta2M amyloidosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268405
property_value: exactMatch http://identifiers.org/snomedct/32599008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206197
property_value: exactMatch Orphanet:85446
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m xsd:anyURI {source="GARD:0010563"}

[Term]
id: MONDO:0019441
name: ATTRV122I amyloidosis
def: "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." [Orphanet:85451]
subset: ordo_disease {source="Orphanet:85451"}
synonym: "ATTR cardiomyopathy" EXACT [Orphanet:85451]
synonym: "ATTRV122I-related amyloidosis" EXACT [Orphanet:85451]
synonym: "transthyretin amyloid cardiopathy" EXACT [Orphanet:85451]
synonym: "transthyretin-related familial amyloid cardiomyopathy" EXACT [Orphanet:85451]
synonym: "TTR-related amyloid cardiomyopathy" EXACT [Orphanet:85451]
synonym: "TTR-related cardiac amyloidosis" EXACT [Orphanet:85451]
xref: ICD10:E85.4+ {source="ORDO:85451/inclusion", source="ORDO:85451/ntbt", source="Orphanet:85451"}
xref: ICD10:I43.1* {source="ORDO:85451/inclusion", source="ORDO:85451/ntbt", source="Orphanet:85451"}
xref: Orphanet:85451 {source="MONDO:equivalentTo"}
xref: SCTID:715655000 {source="MONDO:kboom-pr-1.00/0.80/9.17", source="MONDO:equivalentTo"}
is_a: MONDO:0007100 ! familial amyloid neuropathy
is_a: MONDO:0016340 {source="Orphanet:85451", source="linkedlifedata"} ! familial restrictive cardiomyopathy
property_value: exactMatch http://identifiers.org/snomedct/715655000
property_value: exactMatch Orphanet:85451

[Term]
id: MONDO:0019442
name: obsolete congenital toxoplasmosis
is_obsolete: true
replaced_by: MONDO:0005715

[Term]
id: MONDO:0019443
name: dextro-looped transposition of the great arteries
def: "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." [Orphanet:860]
subset: ordo_morphological_anomaly {source="Orphanet:860"}
synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770]
synonym: "congenitally uncorrected transposition of the great vessels" EXACT [DOID:0060770, Orphanet:860]
synonym: "D-TGA" EXACT [DOID:0060770]
synonym: "DTGA" EXACT [MONDO:Lexical]
synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860]
synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860]
xref: DOID:0060770 {source="MONDO:equivalentTo"}
xref: ICD10:Q20.3 {source="DOID:0060770", source="ORDO:860/ntbt", source="ORDO:860/inclusion", source="Orphanet:860"}
xref: OMIMPS:608808 {source="DOID:0060770", source="MONDO:equivalentTo", source="DC:0000602"}
xref: Orphanet:860 {source="DOID:0060770", source="MONDO:equivalentTo"}
is_a: MONDO:0000153 {source="MONDO:Redundant", source="Orphanet:860"} ! transposition of the great arteries
is_a: MONDO:0005453 {source="DOID:0060770"} ! congenital heart disease
is_a: MONDO:0017131 {source="Orphanet:860"} ! genetic cardiac anomaly
property_value: exactMatch DOID:0060770
property_value: exactMatch Orphanet:860

[Term]
id: MONDO:0019444
name: Trichinellosis
def: "and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." [Orphanet:863]
subset: ordo_disease {source="Orphanet:863"}
synonym: "Human trichinellosis" RELATED [GARD:0005250]
synonym: "infection with Trichinella" RELATED [GARD:0005250]
synonym: "trichiniasis" RELATED [GARD:0005250]
synonym: "trichinosis" EXACT [Orphanet:863]
xref: GARD:0005250 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="ORDO:863/e"}
xref: MedDRA:10044608 {source="Orphanet:863", source="ORDO:863/e"}
xref: MESH:D014235 {source="Orphanet:863", source="MONDO:equivalentTo", source="ORDO:863/e"}
xref: Orphanet:863 {source="MONDO:equivalentTo"}
xref: SCTID:709018004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.44/0.12"}
is_a: MONDO:0005135 {source="Orphanet:863"} ! parasitic infection
is_a: MONDO:0016128 {source="Orphanet:863"} ! parasitic myositis
property_value: exactMatch http://identifiers.org/meddra/10044608
property_value: exactMatch http://identifiers.org/mesh/D014235
property_value: exactMatch http://identifiers.org/snomedct/709018004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040896
property_value: exactMatch Orphanet:863

[Term]
id: MONDO:0019445
name: trichofolliculoma
def: "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." [Orphanet:864]
subset: gard_rare {source="GARD:0005263"}
subset: ordo_disease {source="Orphanet:864"}
xref: GARD:0005263 {source="MONDO:equivalentTo"}
xref: ICDO:8101/0 {source="NCIT:C4112"}
xref: MedDRA:10044611 {source="Orphanet:864", source="ORDO:864/e"}
xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:864/e"}
xref: NCIT:C4112 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:864 {source="MONDO:equivalentTo"}
xref: SCTID:274899008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0334262 {source="Orphanet:864", source="MONDO:equivalentTo", source="NCIT:C4112", source="ORDO:864/e"}
is_a: MONDO:0021539 {source="NCIT:C4112"} ! hamartoma of skin appendage
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:864"} ! obsolete rare skin tumor or hamartoma
property_value: exactMatch http://identifiers.org/meddra/10044611
property_value: exactMatch http://identifiers.org/mesh/C536553
property_value: exactMatch http://identifiers.org/snomedct/274899008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334262
property_value: exactMatch NCIT:C4112
property_value: exactMatch Orphanet:864
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma xsd:anyURI {source="GARD:0005263"}

[Term]
id: MONDO:0019446
name: localized lichen myxedematosus
def: "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." [Orphanet:86795]
subset: ordo_group_of_disorders {source="Orphanet:86795"}
synonym: "papular mucinosis" EXACT [Orphanet:86795]
xref: GARD:0007321 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L98.5 {source="Orphanet:86795", source="ORDO:86795/ntbt"}
xref: Orphanet:86795 {source="MONDO:equivalentTo"}
is_a: MONDO:0018432 {source="MONDO:Redundant", source="MONDOLEX:0019446", source="Orphanet:86795"} ! lichen myxedematosus
property_value: exactMatch Orphanet:86795

[Term]
id: MONDO:0019447
name: atypical lichen myxedematosus
def: "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form (see these terms). Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form) (see these terms). The course of atypical LM is unpredictable because only a few cases have been reported." [Orphanet:86797]
subset: ordo_disease {source="Orphanet:86797"}
synonym: "Intermediate lichen myxedematosus" EXACT [Orphanet:86797]
xref: ICD10:L98.5 {source="Orphanet:86797", source="ORDO:86797/ntbt"}
xref: Orphanet:86797 {source="MONDO:equivalentTo"}
xref: SCTID:725148000 {source="MONDO:equivalentTo"}
xref: UMLS:C4510874 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018432 {source="MONDOLEX:0019447", source="Orphanet:86797"} ! lichen myxedematosus
property_value: exactMatch http://identifiers.org/snomedct/725148000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510874
property_value: exactMatch Orphanet:86797

[Term]
id: MONDO:0019448
name: benign adult familial myoclonic epilepsy
def: "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." [Orphanet:86814]
subset: ordo_disease {source="Orphanet:86814"}
synonym: "ADCME" EXACT [Orphanet:86814]
synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [Orphanet:86814]
synonym: "BAFME" EXACT [Orphanet:86814]
synonym: "benign adult familial myoclonus epilepsy" EXACT [Orphanet:86814]
synonym: "FAME" EXACT [Orphanet:86814]
synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814]
synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814]
synonym: "FCMTE" EXACT [Orphanet:86814]
xref: ICD10:G40.3 {source="ORDO:86814/attributed", source="ORDO:86814/ntbt", source="Orphanet:86814"}
xref: Orphanet:86814 {source="MONDO:equivalentTo"}
xref: SCTID:717225001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.75/0.48"}
xref: UMLS:C4273988 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN206220 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017651 {source="Orphanet:86814"} ! primary myoclonus
is_a: MONDO:0020073 {source="Orphanet:86814"} ! adolescent-onset epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/717225001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206220
property_value: exactMatch Orphanet:86814

[Term]
id: MONDO:0019449
name: lissencephaly type 3-familial fetal akinesia sequence syndrome
def: "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms)." [Orphanet:86821]
subset: ordo_malformation_syndrome {source="Orphanet:86821"}
xref: ICD10:Q04.3 {source="Orphanet:86821", source="ORDO:86821/attributed", source="ORDO:86821/ntbt"}
xref: Orphanet:86821 {source="MONDO:equivalentTo"}
xref: SCTID:718719001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:CN227635 {source="MONDO:equivalentTo"}
is_a: MONDO:0015148 {source="MONDOLEX:0019449", source="Orphanet:86821"} ! lissencephaly type 3
property_value: exactMatch http://identifiers.org/snomedct/718719001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227635
property_value: exactMatch Orphanet:86821

[Term]
id: MONDO:0019450
name: lissencephaly with cerebellar hypoplasia
def: "-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." [Orphanet:86823]
subset: ordo_group_of_disorders {source="Orphanet:86823"}
synonym: "LCH" EXACT [Orphanet:86823]
xref: ICD10:Q04.3 {source="ORDO:86823/attributed", source="ORDO:86823/ntbt", source="Orphanet:86823"}
xref: Orphanet:86823 {source="MONDO:equivalentTo"}
xref: SCTID:715817007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4274995 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="Orphanet:86823", source="linkedlifedata"} ! lissencephaly spectrum disorders
property_value: exactMatch http://identifiers.org/snomedct/715817007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274995
property_value: exactMatch Orphanet:86823

[Term]
id: MONDO:0019451
name: chronic neutrophilic leukemia
def: "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." [NCIT:C3179]
subset: gard_rare {source="GARD:0010585"}
subset: ordo_disease {source="Orphanet:86829"}
synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179]
synonym: "CNL" RELATED [GARD:0010585, ONCOTREE:CNL]
synonym: "neutrophilic leukemia" EXACT [NCIT:C3179]
xref: DOID:0080187 {source="MONDO:equivalentTo"}
xref: EFO:1000179 {source="MONDO:equivalentTo"}
xref: GARD:0010585 {source="MONDO:equivalentTo"}
xref: ICD10:D47.1 {source="ORDO:86829/ntbt", source="Orphanet:86829"}
xref: ICDO:9963/3 {source="NCIT:C3179"}
xref: MESH:D015467 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:86829/e", source="Orphanet:86829"}
xref: NCIT:C3179 {source="DOID:0080187", source="EFO:1000179", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:CNL {source="MONDO:equivalentTo"}
xref: Orphanet:86829 {source="MONDO:equivalentTo"}
xref: SCTID:188734009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0023481 {source="MONDO:equivalentTo", source="NCIT:C3179", source="ORDO:86829/e", source="Orphanet:86829"}
xref: UMLS:C0474856 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia
is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C3179", source="ONCOTREE:CNL", source="OWLReasoner:2017", source="Orphanet:86829"} ! myeloproliferative neoplasm
property_value: exactMatch DOID:0080187
property_value: exactMatch http://identifiers.org/mesh/D015467
property_value: exactMatch http://identifiers.org/snomedct/188734009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474856
property_value: exactMatch NCIT:C3179
property_value: exactMatch Orphanet:86829
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia xsd:anyURI {source="GARD:0010585"}

[Term]
id: MONDO:0019452
name: myeloproliferative neoplasm, unclassifiable
def: "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." [NCIT:C27350]
subset: ordo_disease {source="Orphanet:86830"}
synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350]
synonym: "chronic myeloproliferative disorder, unclassifiable" EXACT [NCIT:C27350]
synonym: "CMPD, U" EXACT [NCIT:C27350]
synonym: "CMPD-U" EXACT [NCIT:C27350, Orphanet:86830]
synonym: "MPN, U" EXACT [NCIT:C27350]
synonym: "MPN-U" EXACT [NCIT:C27350]
synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350]
synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350]
synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350]
synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830]
xref: ICD10:D47.1 {source="Orphanet:86830", source="ORDO:86830/ntbt"}
xref: ICDO:9975/3 {source="NCIT:C27350"}
xref: NCIT:C27350 {source="MONDO:equivalentTo", source="kboom:pr0.76-conf4.32"}
xref: Orphanet:86830 {source="MONDO:equivalentTo"}
xref: UMLS:C1333046 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27350"}
is_a: MONDO:0020076 {source="NCIT:C27350", source="Orphanet:86830"} ! myeloproliferative neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333046
property_value: exactMatch NCIT:C27350
property_value: exactMatch Orphanet:86830

[Term]
id: MONDO:0019453
name: refractory cytopenia with multilineage dysplasia
def: "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." [Orphanet:86836]
subset: ordo_group_of_disorders {source="Orphanet:86836"}
synonym: "MDS-MLD" EXACT [NCIT:C8574]
synonym: "myelodysplastic syndrome with multilineage dysplasia" EXACT [NCIT:C8574]
synonym: "RCMD" EXACT [NCIT:C8574]
synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574]
xref: ICD10:D46.7 {source="ORDO:86836/ntbt", source="Orphanet:86836"}
xref: ICD10:D46.A {source="MONDO:equivalentTo"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9985/3 {source="NCIT:C8574"}
xref: MedDRA:10067959 {source="ORDO:86836/e", source="Orphanet:86836"}
xref: NCIT:C8574 {source="MONDO:kboom-pr-1.00/0.91/29.16", source="MONDO:equivalentTo"}
xref: Orphanet:86836 {source="MONDO:equivalentTo"}
xref: SCTID:415285009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0796466 {source="NCIT:C8574", source="MONDO:equivalentTo", source="ORDO:86836/e", source="Orphanet:86836"}
is_a: MONDO:0004111 ! refractory hematologic cancer
is_a: MONDO:0018881 {source="NCIT:C8574", source="Orphanet:86836", source="linkedlifedata"} ! myelodysplastic syndrome
property_value: exactMatch http://identifiers.org/meddra/10067959
property_value: exactMatch http://identifiers.org/snomedct/415285009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796466
property_value: exactMatch NCIT:C8574
property_value: exactMatch Orphanet:86836

[Term]
id: MONDO:0019454
name: myelodysplastic syndrome with excess blasts
def: "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." [NCIT:C7506]
subset: ordo_disease {source="Orphanet:86839"}
synonym: "MDS-EB" EXACT [NCIT:C7506]
synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506]
synonym: "RAEB" EXACT [NCIT:C7506]
synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506]
synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506]
xref: COHD:136949 {source="MONDO:equivalentTo"}
xref: EFO:0003811 {source="MONDO:equivalentTo"}
xref: ICD10:D46.2 {source="ORDO:86839/ntbt", source="Orphanet:86839"}
xref: ICDO:9983/3 {source="NCIT:C7506"}
xref: MedDRA:10038270 {source="ORDO:86839/e", source="Orphanet:86839"}
xref: MESH:D000754 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="MONDO:ontobio", source="Orphanet:86839"}
xref: NCIT:C7506 {source="MONDO:equivalentTo", source="EFO:0003811"}
xref: Orphanet:86839 {source="MONDO:equivalentTo"}
xref: SCTID:398623004 {source="MONDO:kboom-pr-1.00/0.78/6.61", source="MONDO:equivalentTo"}
xref: UMLS:C0002894 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="NCIT:C7506", source="Orphanet:86839"}
is_a: MONDO:0018881 {source="EFO:0003811", source="NCIT:C7506", source="Orphanet:86839", source="linkedlifedata"} ! myelodysplastic syndrome
is_a: MONDO:0044881 ! hematopoietic and lymphoid cell neoplasm
relationship: disease_has_feature MONDO:0002049 {source="NCIT:C7506"} ! thrombocytopenia
property_value: closeMatch http://identifiers.org/snomedct/128847002
property_value: exactMatch http://identifiers.org/meddra/10038270
property_value: exactMatch http://identifiers.org/mesh/D000754
property_value: exactMatch http://identifiers.org/snomedct/398623004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002894
property_value: exactMatch NCIT:C7506
property_value: exactMatch Orphanet:86839

[Term]
id: MONDO:0019455
name: acute panmyelosis with myelofibrosis
def: "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." [NCIT:P378]
subset: gard_rare {source="GARD:0011907"}
subset: ordo_disease {source="Orphanet:86843"}
synonym: "acute (malignant) myelofibrosis" EXACT [NCIT:C4344]
synonym: "acute (malignant) myelosclerosis" EXACT [NCIT:C4344]
synonym: "acute myelodysplasia with myelofibrosis" EXACT [Orphanet:86843]
synonym: "acute myelofibrosis" EXACT [Orphanet:86843]
synonym: "acute myelosclerosis" EXACT [Orphanet:86843]
synonym: "acute panmyelosis" EXACT [NCIT:C4344]
synonym: "APMF" EXACT [NCIT:C4344, ONCOTREE:APMF]
xref: GARD:0011907 {source="MONDO:equivalentTo"}
xref: ICD10:C94.4 {source="ORDO:86843/e", source="Orphanet:86843"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9931/3 {source="NCIT:C4344"}
xref: MedDRA:10000879 {source="ORDO:86843/e", source="Orphanet:86843"}
xref: NCIT:C4344 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:APMF {source="MONDO:equivalentTo"}
xref: Orphanet:86843 {source="MONDO:equivalentTo"}
xref: SCTID:109991003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0334674 {source="ORDO:86843/e", source="Orphanet:86843", source="MONDO:equivalentTo", source="NCIT:C4344"}
is_a: MONDO:0015667 {source="Orphanet:86843"} ! unclassified acute myeloid leukemia
property_value: exactMatch http://identifiers.org/meddra/10000879
property_value: exactMatch http://identifiers.org/snomedct/109991003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334674
property_value: exactMatch NCIT:C4344
property_value: exactMatch Orphanet:86843
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis xsd:anyURI {source="GARD:0011907"}

[Term]
id: MONDO:0019456
name: acute myeloid leukemia with multilineage dysplasia
def: "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." [NCIT:P378]
subset: ordo_disease {source="Orphanet:86845"}
synonym: "acute myeloid leukaemia with myelodysplasia-related features" RELATED [Orphanet:86845]
synonym: "AML with multilineage dysplasia" EXACT [Orphanet:86845]
synonym: "AML with myelodysplasia-related features" EXACT [Orphanet:86845]
synonym: "De novo acute myeloid leukemia with multilineage dysplasia" EXACT [NCIT:C9289]
xref: GARD:0012761 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C92.8 {source="ORDO:86845/e", source="Orphanet:86845"}
xref: ICDO:9895/3 {source="NCIT:C9289"}
xref: NCIT:C9289 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:86845 {source="MONDO:equivalentTo"}
xref: SCTID:445448008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.83"}
xref: UMLS:C1292773 {source="NCIT:C9289", source="ORDO:86845/e", source="MONDO:equivalentTo", source="Orphanet:86845"}
is_a: MONDO:0011118 ! bilineal acute myeloid leukemia
property_value: exactMatch http://identifiers.org/snomedct/445448008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292773
property_value: exactMatch NCIT:C9289
property_value: exactMatch Orphanet:86845

[Term]
id: MONDO:0019457
name: therapy related acute myeloid leukemia and myelodysplastic syndrome
def: "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" [NCIT:C25765]
subset: gard_rare {source="GARD:0012762"}
subset: ordo_group_of_disorders {source="Orphanet:86846"}
synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myeloblastic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myelocytic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myelogenous Leukemia" EXACT [NCIT:C25765]
synonym: "secondary acute myeloid leukemia" EXACT [Orphanet:86846]
synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765]
synonym: "Secondary AGL" EXACT [NCIT:C25765]
synonym: "secondary AML" EXACT [Orphanet:86846]
synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846]
xref: GARD:0012762 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="ORDO:86846/ntbt", source="Orphanet:86846"}
xref: NCIT:C25765 {source="MONDO:equivalentTo"}
xref: Orphanet:86846 {source="MONDO:equivalentTo"}
xref: SCTID:721306009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0018874 {source="MONDOLEX:0019457", source="NCIT:C25765", source="Orphanet:86846", source="linkedlifedata"} ! acute myeloid leukemia
property_value: exactMatch http://identifiers.org/snomedct/721306009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292776
property_value: exactMatch NCIT:C25765
property_value: exactMatch Orphanet:86846
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome xsd:anyURI {source="GARD:0012762"}

[Term]
id: MONDO:0019458
name: acute basophilic leukemia
def: "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." [NCIT:C3164]
subset: ordo_disease {source="Orphanet:86849"}
synonym: "basophilic leukemia" EXACT [NCIT:C3164]
synonym: "leukemia basophilic" EXACT [NCIT:C3164]
xref: EFO:0003029 {source="MONDO:equivalentTo"}
xref: ICD10:C94.7 {source="ORDO:86849/ntbt", source="Orphanet:86849"}
xref: ICDO:9870/3 {source="NCIT:C3164"}
xref: MESH:D015471 {source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849", source="MONDO:ontobio"}
xref: NCIT:C3164 {source="EFO:0003029", source="MONDO:equivalentTo"}
xref: ONCOTREE:ABL {source="MONDO:equivalentTo"}
xref: Orphanet:86849 {source="MONDO:equivalentTo"}
xref: SCTID:307592006 {source="MONDO:equivalentTo"}
xref: UMLS:C0023437 {source="NCIT:C3164", source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849"}
xref: UMLS:C0221292 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011118 {source="EFO:0003029"} ! bilineal acute myeloid leukemia
property_value: closeMatch http://identifiers.org/snomedct/69077002
property_value: exactMatch http://identifiers.org/mesh/D015471
property_value: exactMatch http://identifiers.org/snomedct/307592006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221292
property_value: exactMatch NCIT:C3164
property_value: exactMatch Orphanet:86849

[Term]
id: MONDO:0019459
name: obsolete myeloid sarcoma
is_obsolete: true
replaced_by: MONDO:0006861

[Term]
id: MONDO:0019460
name: acute leukemia of ambiguous lineage
def: "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" [NCIT:C7464]
subset: ordo_group_of_disorders {source="Orphanet:86851"}
synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464]
synonym: "acute leukemia of indeterminate lineage" EXACT [NCIT:C7464, Orphanet:86851]
synonym: "acute leukemia of undetermined lineage" RELATED [GARD:0008638]
synonym: "ALL with myeloid markers" RELATED [GARD:0008638]
synonym: "AML with lymphoid markers" RELATED [GARD:0008638]
synonym: "BAL" RELATED [GARD:0008638]
synonym: "biphenotypic acute leukemia" RELATED [GARD:0008638]
synonym: "hybrid acute leukemia" EXACT [Orphanet:86851]
synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851]
synonym: "mixed phenotype acute leukemia" EXACT [Orphanet:86851]
xref: GARD:0008638 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C95.0 {source="Orphanet:86851", source="ORDO:86851/ntbt"}
xref: MedDRA:10067399 {source="Orphanet:86851", source="ORDO:86851/e"}
xref: NCIT:C7464 {source="MONDO:equivalentTo", source="MONDO:0021040"}
xref: Orphanet:86851 {source="MONDO:equivalentTo"}
xref: SCTID:721308005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1301357 {source="NCIT:C7464", source="Orphanet:86851", source="MONDO:equivalentTo", source="ORDO:86851/e"}
is_a: MONDO:0018874 {source="MONDOLEX:0019460", source="Orphanet:86851"} ! acute myeloid leukemia
property_value: exactMatch http://identifiers.org/meddra/10067399
property_value: exactMatch http://identifiers.org/snomedct/721308005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301357
property_value: exactMatch NCIT:C7464
property_value: exactMatch Orphanet:86851

[Term]
id: MONDO:0019461
name: B-cell prolymphocytic leukemia
def: "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." [MESH:D054403]
subset: ordo_disease {source="Orphanet:86852"}
synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753]
synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753]
synonym: "B-PLL" EXACT [Orphanet:86852]
synonym: "BPLL" RELATED [ONCOTREE:BPLL]
xref: EFO:1000102 {source="MONDO:equivalentTo"}
xref: ICD10:C91.3 {source="Orphanet:86852", source="ORDO:86852/ntbt"}
xref: ICDO:9833/3 {source="NCIT:C4753"}
xref: MESH:D054403 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo"}
xref: NCIT:C4753 {source="EFO:1000102", source="MONDO:equivalentTo"}
xref: ONCOTREE:BPLL {source="MONDO:equivalentTo"}
xref: Orphanet:86852 {source="MONDO:equivalentTo"}
xref: SCTID:277619001 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0475801 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo", source="NCIT:C4753"}
is_a: MONDO:0001023 {source="MESH:D054403", source="MONDOLEX:0019461", source="NCIT:C4753", source="linkedlifedata"} ! prolymphocytic leukemia
is_a: MONDO:0004949 {source="NCIT:C4753", source="ONCOTREE:BPLL"} ! neoplasm of mature B-cells
is_a: MONDO:0017595 {source="Orphanet:86852"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/mesh/D054403
property_value: exactMatch http://identifiers.org/snomedct/277619001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475801
property_value: exactMatch NCIT:C4753
property_value: exactMatch Orphanet:86852

[Term]
id: MONDO:0019462
name: splenic marginal zone lymphoma
def: "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." [Orphanet:86854]
subset: ordo_disease {source="Orphanet:86854"}
synonym: "marginal zone lymphoma of spleen" EXACT [NCIT:C4663]
synonym: "marginal zone lymphoma of the spleen" EXACT [NCIT:C4663]
synonym: "SLVL" EXACT [NCIT:C4663]
synonym: "SMZL" EXACT [NCIT:C4663, ONCOTREE:SMZL, Orphanet:86854]
synonym: "splenic lymphoma with circulating villous lymphocytes" EXACT [NCIT:C4663]
synonym: "splenic marginal zone B-cell lymphoma" EXACT [NCIT:C4663]
synonym: "splenic marginal zone B-cell lymphoma with villous lymphocytes" EXACT [NCIT:C4663]
synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663]
synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663]
xref: DOID:0050750 {source="MONDO:equivalentTo"}
xref: EFO:1000550 {source="MONDO:equivalentTo"}
xref: ICD10:C83.0 {source="Orphanet:86854", source="ORDO:86854/ntbt"}
xref: ICDO:9689/3 {source="NCIT:C4663"}
xref: MedDRA:10062113 {source="ORDO:86854/e", source="Orphanet:86854"}
xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:SMZL {source="MONDO:equivalentTo"}
xref: Orphanet:86854 {source="MONDO:equivalentTo"}
xref: SCTID:763666008 {source="MONDO:equivalentTo"}
xref: UMLS:C0349632 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:86854", source="MONDO:equivalentTo", source="NCIT:C4663"}
is_a: MONDO:0017604 {source="DOID:0050750", source="EFO:1000550", source="NCIT:C4663", source="ONCOTREE:SMZL", source="Orphanet:86854"} ! marginal zone lymphoma
property_value: exactMatch DOID:0050750
property_value: exactMatch http://identifiers.org/meddra/10062113
property_value: exactMatch http://identifiers.org/snomedct/763666008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349632
property_value: exactMatch NCIT:C4663
property_value: exactMatch Orphanet:86854

[Term]
id: MONDO:0019463
name: non-amyloid monoclonal immunoglobulin deposition disease
subset: ordo_disease {source="Orphanet:86861"}
synonym: "non-amyloid MIDD" EXACT [Orphanet:86861]
synonym: "Randall disease" EXACT [Orphanet:86861]
xref: ICD10:D89.8 {source="Orphanet:86861", source="ORDO:86861/ntbt"}
xref: Orphanet:86861 {source="MONDO:equivalentTo"}
xref: UMLS:CN206242 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0004959 {source="Orphanet:86861"} ! plasma cell neoplasm
is_a: MONDO:0019724 {source="Orphanet:86861"} ! secondary glomerular disease
is_a: MONDO:0021163 ! kidney neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206242
property_value: exactMatch Orphanet:86861

[Term]
id: MONDO:0019464
name: heavy chain disease
def: "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." [Orphanet:86864]
subset: ordo_disease {source="Orphanet:86864"}
synonym: "HCD" EXACT [NCIT:C3082, Orphanet:86864]
synonym: "heavy chain disease" EXACT [NCIT:C3082]
xref: DOID:0060125 {source="MONDO:equivalentTo"}
xref: EFO:1001341 {source="MONDO:equivalentTo"}
xref: ICD10:C88.2 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="ORDO:86864/btnt"}
xref: ICD10:C88.3 {source="MONDO:relatedTo", source="Orphanet:86864", source="ORDO:86864/btnt"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9762/3 {source="NCIT:C3082"}
xref: MedDRA:10019350 {source="ORDO:86864/e", source="Orphanet:86864"}
xref: MESH:D006362 {source="ORDO:86864/e", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"}
xref: NCIT:C3082 {source="DOID:0060125", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:86864 {source="MONDO:equivalentTo"}
xref: SCTID:68979007 {source="DOID:0060125", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0018852 {source="ORDO:86864/e", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="NCIT:C3082"}
is_a: MONDO:0004959 {source="Orphanet:86864", source="linkedlifedata"} ! plasma cell neoplasm
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:0060125"} ! type IV hypersensitivity disease
property_value: closeMatch http://identifiers.org/snomedct/123062004
property_value: closeMatch http://identifiers.org/snomedct/190011009
property_value: closeMatch http://identifiers.org/snomedct/190820001
property_value: closeMatch http://identifiers.org/snomedct/5440009
property_value: closeMatch http://identifiers.org/snomedct/6381009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018854
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242310
property_value: exactMatch DOID:0060125
property_value: exactMatch http://identifiers.org/meddra/10019350
property_value: exactMatch http://identifiers.org/mesh/D006362
property_value: exactMatch http://identifiers.org/snomedct/68979007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018852
property_value: exactMatch NCIT:C3082
property_value: exactMatch Orphanet:86864

[Term]
id: MONDO:0019465
name: nodal marginal zone B-cell lymphoma
def: "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." [Orphanet:86867]
subset: ordo_disease {source="Orphanet:86867"}
synonym: "Monocytoid B-cell lymphoma" EXACT [NCIT:C8863]
synonym: "NMZL" EXACT [ONCOTREE:NMZL, Orphanet:86867]
synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863]
synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863]
synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863]
xref: DOID:0080211 {source="MONDO:equivalentTo"}
xref: ICD10:C83.0 {source="ORDO:86867/ntbt", source="Orphanet:86867"}
xref: MedDRA:10029460 {source="ORDO:86867/e", source="Orphanet:86867"}
xref: NCIT:C8863 {source="DOID:0080211", source="MONDO:equivalentTo"}
xref: ONCOTREE:NMZL {source="MONDO:equivalentTo"}
xref: Orphanet:86867 {source="MONDO:equivalentTo"}
xref: SCTID:277623009 {source="MONDO:equivalentTo"}
xref: UMLS:C0855139 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8863", source="MONDO:equivalentTo"}
is_a: MONDO:0017604 {source="DOID:0080211", source="NCIT:C8863", source="ONCOTREE:NMZL", source="Orphanet:86867"} ! marginal zone lymphoma
property_value: exactMatch DOID:0080211
property_value: exactMatch http://identifiers.org/meddra/10029460
property_value: exactMatch http://identifiers.org/snomedct/277623009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855139
property_value: exactMatch NCIT:C8863
property_value: exactMatch Orphanet:86867

[Term]
id: MONDO:0019466
name: lymphomatoid granulomatosis
def: "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." [Orphanet:86869]
subset: gard_rare {source="GARD:0006943"}
subset: ordo_disease {source="Orphanet:86869"}
synonym: "LYG" EXACT [ONCOTREE:LYG, Orphanet:86869]
xref: GARD:0006943 {source="MONDO:equivalentTo"}
xref: ICD10:C83.8 {source="ORDO:86869/ntbt", source="Orphanet:86869"}
xref: ICDO:9766/1 {source="NCIT:C7930"}
xref: MedDRA:10025325 {source="ORDO:86869/e", source="Orphanet:86869"}
xref: MESH:D008230 {source="MONDO:equivalentTo", source="ORDO:86869/e", source="Orphanet:86869", source="MONDO:ontobio"}
xref: NCIT:C7930 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LYG {source="MONDO:equivalentTo"}
xref: Orphanet:86869 {source="MONDO:equivalentTo"}
xref: SCTID:239940004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/26.16"}
xref: UMLS:C0024307 {source="MONDO:equivalentTo", source="NCIT:C7930", source="ORDO:86869/e", source="Orphanet:86869"}
is_a: MONDO:0017343 {source="Orphanet:86869"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="Orphanet:86869"} ! diffuse large B-cell lymphoma
property_value: exactMatch http://identifiers.org/meddra/10025325
property_value: exactMatch http://identifiers.org/mesh/D008230
property_value: exactMatch http://identifiers.org/snomedct/239940004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024307
property_value: exactMatch NCIT:C7930
property_value: exactMatch Orphanet:86869
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis xsd:anyURI {source="GARD:0006943"}

[Term]
id: MONDO:0019467
name: CD4+/CD56+ hematodermic neoplasm
def: "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." [NCIT:C7203]
subset: gard_rare
subset: ordo_disease {source="Orphanet:86870"}
synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203]
synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [NCIT:C7203]
synonym: "blastic natural Killer leukemia/lymphoma" EXACT [NCIT:C7203]
synonym: "blastic NK-cell lymphoma" EXACT [NCIT:C7203, Orphanet:86870]
synonym: "blastic plasmacytoid dendritic cell" RELATED [GARD:0010556]
synonym: "blastic plasmacytoid Dendritic cell neoplasm" EXACT [NCIT:C7203]
synonym: "blastic plasmacytoid dendritic cell neoplasm" EXACT [Orphanet:86870]
synonym: "BPDCN" EXACT [Orphanet:86870]
synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [GARD:0010556, NCIT:C7203]
synonym: "early plasmacytoid Dendritic cell leukemia/lymphoma" EXACT [NCIT:C7203]
synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orphanet:86870]
synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870]
synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203]
xref: GARD:0010556 {source="MONDO:equivalentTo"}
xref: ICD10:C86.4 {source="ORDO:86870/e", source="Orphanet:86870"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9727/3 {source="NCIT:C7203"}
xref: NCIT:C7203 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: ONCOTREE:BPDCN {source="MONDO:equivalentTo"}
xref: Orphanet:86870 {source="MONDO:equivalentTo", source="GARD:0010556"}
xref: SCTID:445105005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1301363 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7203", source="GARD:0010556"}
xref: UMLS:CN206246 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002898 {source="NCIT:C7203"} ! skin cancer
is_a: MONDO:0005170 {source="NCIT:C7203", source="ONCOTREE:BPDCN/inferred"} ! myeloid neoplasm
is_a: MONDO:0015760 {source="Orphanet:86870"} ! T-cell non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/snomedct/445105005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301363
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206246
property_value: exactMatch NCIT:C7203
property_value: exactMatch Orphanet:86870
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell xsd:anyURI {source="GARD:0010556"}

[Term]
id: MONDO:0019468
name: T-cell prolymphocytic leukemia
def: "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." [NCIT:C70649]
subset: ordo_disease {source="Orphanet:86871"}
synonym: "chronic T-cell leukemia" EXACT [NCIT:C70649]
synonym: "chronic T-cell lymphocytic leukemia" EXACT [NCIT:C70649]
synonym: "CLL, T-cell" EXACT [NCIT:C70649]
synonym: "leukemia, T-cell, chronic" RELATED [GARD:0008224]
synonym: "T cell chronic lymphocytic leukemia" EXACT [NCIT:C70649]
synonym: "T cell CLL" EXACT [NCIT:C70649]
synonym: "T cell prolymphocytic leukemia" EXACT [NCIT:C4752]
synonym: "T prolymphocytic leukemia" EXACT [NCIT:C4752]
synonym: "T-cell chronic lymphocytic leukemia" EXACT [Orphanet:86871]
synonym: "T-cell CLL" EXACT [NCIT:C70649]
synonym: "T-cell prolymphocytic leukemia" EXACT [MONDO:0006441, NCIT:C4752]
synonym: "T-PLL" EXACT [Orphanet:86871]
synonym: "TPLL" RELATED [ONCOTREE:TPLL]
xref: EFO:1000560 {source="MONDO:equivalentTo"}
xref: GARD:0008224 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:C91.6 {source="Orphanet:86871", source="ORDO:86871/e"}
xref: ICDO:9834/3 {source="NCIT:C4752"}
xref: MedDRA:10042985 {source="Orphanet:86871", source="ORDO:86871/e"}
xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="ORDO:86871/e"}
xref: NCIT:C4752 {source="EFO:1000560", source="MONDO:equivalentTo"}
xref: NCIT:C70649 {source="MONDO:kboom-pr-0.92/0.83/0.19", source="MONDO:equivalentTo"}
xref: ONCOTREE:TPLL {source="MONDO:equivalentTo"}
xref: Orphanet:86871 {source="MONDO:equivalentTo"}
xref: SCTID:277545003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.33"}
xref: SCTID:277567002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.33"}
xref: UMLS:C0023494 {source="Orphanet:86871", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C70649"}
xref: UMLS:C2363142 {source="Orphanet:86871", source="MONDO:equivalentTo", source="NCIT:C4752", source="ORDO:86871/e"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0001023 {source="MESH:D015461", source="MONDOLEX:0019468", source="NCIT:C4752", source="linkedlifedata"} ! prolymphocytic leukemia
is_a: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004963 ! T-cell acute lymphoblastic leukemia
is_a: MONDO:0005525 {source="MESH:D015461", source="MONDO:Redundant", source="OWLReasoner:2017"} ! T-cell leukemia
property_value: exactMatch http://identifiers.org/meddra/10042985
property_value: exactMatch http://identifiers.org/mesh/D015461
property_value: exactMatch http://identifiers.org/snomedct/277545003
property_value: exactMatch http://identifiers.org/snomedct/277567002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023494
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2363142
property_value: exactMatch NCIT:C4752
property_value: exactMatch NCIT:C70649
property_value: exactMatch Orphanet:86871

[Term]
id: MONDO:0019469
name: T-cell large granular lymphocyte leukemia
def: "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." [Orphanet:86872]
subset: ordo_disease {source="Orphanet:86872"}
synonym: "large cell granular lymphogenous leukemia" EXACT [NCIT:C4664]
synonym: "large cell granular lymphoid leukemia" EXACT [NCIT:C4664]
synonym: "large granular lymphocyte leukemia" RELATED [GARD:0009812]
synonym: "large granular lymphocytic leukemia" EXACT [DOID:0050751, NCIT:C4664]
synonym: "large granular lymphocytosis" EXACT [NCIT:C4664]
synonym: "leukemia, large granular LYMPHOCYTIC, malignant" EXACT [NCIT:C4664]
synonym: "LGL leukemia" RELATED [GARD:0009812]
synonym: "LGLL" EXACT [NCIT:C4664]
synonym: "proliferation of large granular lymphocytes" EXACT [Orphanet:86872]
synonym: "T gamma lymphoproliferative disorder" EXACT [NCIT:C4664]
synonym: "T-cell large gran. lymph. leuk." EXACT [NCIT:C4664]
synonym: "T-cell large granular lymphocyte leukemia" EXACT [NCIT:C4664]
synonym: "T-cell large granular lymphocytic leukemia" EXACT [NCIT:C4664]
synonym: "T-cell LGL leukemia" EXACT [Orphanet:86872]
synonym: "T-gamma lymphoproliferative disorder" EXACT [NCIT:C4664]
synonym: "T-LGL" EXACT [Orphanet:86872]
synonym: "T-LGL leukemia" EXACT [NCIT:C4664]
synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664]
synonym: "TLGL" RELATED [ONCOTREE:TLGL]
xref: DOID:0050751 {source="MONDO:equivalentTo"}
xref: GARD:0009812 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9768/1 {source="NCIT:C4664"}
xref: ICDO:9831/1 {source="NCIT:C4664"}
xref: ICDO:9831/3 {source="NCIT:C4664"}
xref: MedDRA:10065862 {source="Orphanet:86872", source="ORDO:86872/e"}
xref: NCIT:C4664 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:TLGL {source="MONDO:equivalentTo"}
xref: Orphanet:86872 {source="MONDO:equivalentTo"}
xref: SCTID:277569004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1522378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1955861 {source="Orphanet:86872", source="MONDO:equivalentTo", source="NCIT:C4664", source="ORDO:86872/e"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia
is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C4664"} ! lymphoid leukemia (disease)
is_a: MONDO:0015822 {source="Orphanet:86872"} ! acquired neutropenia
relationship: excluded_subClassOf MONDO:0004948 {source="DOID:0050751"} ! B-cell chronic lymphocytic leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930809
property_value: exactMatch DOID:0050751
property_value: exactMatch http://identifiers.org/meddra/10065862
property_value: exactMatch http://identifiers.org/mesh/D054066
property_value: exactMatch http://identifiers.org/snomedct/277569004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1522378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1955861
property_value: exactMatch NCIT:C4664
property_value: exactMatch Orphanet:86872

[Term]
id: MONDO:0019470
name: aggressive NK-cell leukemia
def: "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." [NCIT:C8647]
subset: gard_rare {source="GARD:0010493"}
subset: ordo_disease {source="Orphanet:86873"}
synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493]
synonym: "aggressive NK cell leukemia" RELATED [GARD:0010493]
synonym: "aggressive NK-cell leukemia" EXACT [NCIT:C8647]
synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [DOID:1035]
synonym: "aggressive NK-cell leukemia/lymphoma" EXACT [NCIT:C8647]
synonym: "aggressive NK-cell lymphoma" EXACT [Orphanet:86873]
synonym: "ANKCL" EXACT [Orphanet:86873]
synonym: "ANKL" RELATED [GARD:0010493, ONCOTREE:ANKL]
synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035, NCIT:C8647]
synonym: "leukemia (disease) of natural killer cell" EXACT []
synonym: "natural Killer cell leukemia" EXACT [NCIT:C8647]
synonym: "natural killer cell leukemia" EXACT [MONDO:0001010]
synonym: "natural killer cell leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "NK cell leukemia" EXACT [NCIT:C8647]
synonym: "NK-cell large granular lymphocyte leukemia" EXACT [Orphanet:86873]
synonym: "NK-cell leukemia" EXACT [NCIT:C8647]
synonym: "NK-cell LGL leukemia" EXACT [Orphanet:86873]
xref: DOID:1035 {source="MONDO:equivalentTo"}
xref: GARD:0010493 {source="MONDO:equivalentTo"}
xref: ICD10:C94.7 {source="Orphanet:86873", source="ORDO:86873/ntbt"}
xref: ICD10:C94.8 {source="DOID:1035"}
xref: ICDO:9948/3 {source="NCIT:C8647"}
xref: MedDRA:10028811 {source="Orphanet:86873", source="ORDO:86873/e"}
xref: NCIT:C8647 {source="DOID:1035", source="MONDO:equivalentTo", source="kboom:pr0.86-conf13.24"}
xref: ONCOTREE:ANKL {source="MONDO:equivalentTo"}
xref: Orphanet:86873 {source="MONDO:equivalentTo"}
xref: SCTID:721310007 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C1292777 {source="Orphanet:86873", source="DOID:1035", source="MONDO:equivalentTo", source="NCIT:C8647", source="ORDO:86873/e"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0001014 {source="NCIT:C8647"} ! chronic leukemia
is_a: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004805 {source="DOID:1035", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disease
is_a: MONDO:0004963 ! T-cell acute lymphoblastic leukemia
property_value: closeMatch http://identifiers.org/snomedct/128833001
property_value: exactMatch DOID:1035
property_value: exactMatch http://identifiers.org/meddra/10028811
property_value: exactMatch http://identifiers.org/snomedct/721310007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292777
property_value: exactMatch NCIT:C8647
property_value: exactMatch Orphanet:86873
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia xsd:anyURI {source="GARD:0010493"}

[Term]
id: MONDO:0019471
name: adult T-cell leukemia/lymphoma
def: "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." [NCIT:C3184]
subset: ordo_disease {source="Orphanet:86875"}
synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "adult T-cell leukaemia" RELATED [GARD:0013103]
synonym: "adult T-cell leukaemia/lymphoma (HTLV-1 positive)" RELATED [GARD:0013103]
synonym: "adult T-cell leukemia" EXACT []
synonym: "adult T-cell leukemia" RELATED [DOID:0050523]
synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184]
synonym: "adult T-cell lymphoma" RELATED [GARD:0013103]
synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "ATLL" EXACT [Orphanet:86875]
synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184]
synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:0050523 {source="MONDO:equivalentTo"}
xref: GARD:0013103 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C91.5 {source="Orphanet:86875", source="DOID:0050523", source="ORDO:86875/ntbt"}
xref: ICD10:C91.50 {source="DOID:0050523"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9827/3 {source="NCIT:C3184"}
xref: MedDRA:10001413 {source="ORDO:86875/e", source="Orphanet:86875"}
xref: NCIT:C3184 {source="MONDO:equivalentTo", source="DOID:0050523"}
xref: ONCOTREE:ATLL {source="MONDO:equivalentTo"}
xref: Orphanet:86875 {source="MONDO:equivalentTo"}
xref: SCTID:110007008 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:0050523"}
xref: UMLS:C0023493 {source="ORDO:86875/e", source="NCIT:C3184", source="Orphanet:86875", source="MONDO:equivalentTo", source="DOID:0050523"}
is_a: MONDO:0003660 ! adult lymphoma
is_a: MONDO:0005525 {source="DOID:0050523", source="MONDO:Redundant"} ! T-cell leukemia
is_a: MONDO:0015817 {source="Orphanet:86875"} ! aggressive primary cutaneous T-cell lymphoma
is_a: MONDO:0017341 {source="Orphanet:86875"} ! virus associated tumor
is_a: MONDO:0017814 ! primary bone lymphoma
is_a: MONDO:0021138 ! bone marrow cancer
property_value: closeMatch http://identifiers.org/snomedct/188729005
property_value: closeMatch http://identifiers.org/snomedct/77430005
property_value: exactMatch DOID:0050523
property_value: exactMatch http://identifiers.org/meddra/10001413
property_value: exactMatch http://identifiers.org/mesh/D015459
property_value: exactMatch http://identifiers.org/snomedct/110007008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023493
property_value: exactMatch NCIT:C3184
property_value: exactMatch Orphanet:86875

[Term]
id: MONDO:0019472
name: extranodal nasal NK/T cell lymphoma
def: "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." [Orphanet:86879]
subset: ordo_disease {source="Orphanet:86879"}
synonym: "angiocentric T-cell lymphoma" EXACT [Orphanet:86879]
synonym: "Extranodal NK/T lymphoma-nasal" EXACT [NCIT:C4684]
synonym: "Extranodal NK/T-cell lymphoma, nasal type" EXACT [NCIT:C4684]
synonym: "lethal midline granuloma" EXACT [Orphanet:86879]
synonym: "nasal T/natural killer-cell lymphoma" EXACT [Orphanet:86879]
synonym: "nasal type Extranodal NK/T-cell lymphoma" EXACT [NCIT:C4684]
synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879]
synonym: "NKTCL" EXACT [Orphanet:86879]
synonym: "reticulosis, malignant" EXACT [NCIT:C4684]
xref: GARD:0013270 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:C86.0 {source="ORDO:86879/e", source="Orphanet:86879"}
xref: ICDO:9719/3 {source="NCIT:C4684"}
xref: MedDRA:10065855 {source="ORDO:86879/e", source="Orphanet:86879"}
xref: NCIT:C4684 {source="MONDO:equivalentTo"}
xref: Orphanet:86879 {source="MONDO:equivalentTo"}
xref: UMLS:C0392788 {source="ORDO:86879/e", source="MONDO:equivalentTo", source="NCIT:C4684", source="Orphanet:86879"}
is_a: MONDO:0015817 {source="Orphanet:86879"} ! aggressive primary cutaneous T-cell lymphoma
is_a: MONDO:0017343 {source="Orphanet:86879"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018197
property_value: exactMatch http://identifiers.org/meddra/10065855
property_value: exactMatch http://identifiers.org/mesh/D054391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392788
property_value: exactMatch NCIT:C4684
property_value: exactMatch Orphanet:86879

[Term]
id: MONDO:0019473
name: enteropathy-associated T-cell lymphoma
def: "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." [NCIT:C4737]
comment: Editor note: consider moving ORDO class to SI subclass
subset: gard_rare {source="GARD:0009809"}
subset: ordo_disease {source="Orphanet:86880"}
synonym: "EATCL" RELATED [GARD:0009809]
synonym: "EATL" EXACT [ONCOTREE:EATL, Orphanet:86880]
synonym: "EATL, type I" EXACT [NCIT:C4737]
synonym: "enteropathy associated T-cell lymphoma" EXACT [NCIT:C4737]
synonym: "enteropathy-associated T-cell lymphoma, type I" EXACT [NCIT:C4737]
synonym: "enteropathy-type T-cell lymphoma" EXACT [Orphanet:86880]
synonym: "ETTL" EXACT [Orphanet:86880]
synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809]
synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880]
xref: GARD:0009809 {source="MONDO:equivalentTo"}
xref: ICD10:C86.2 {source="ORDO:86880/e", source="Orphanet:86880"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9717/3 {source="NCIT:C4737"}
xref: MedDRA:10022703 {source="ORDO:86880/e", source="Orphanet:86880"}
xref: MESH:D058527 {source="MONDO:equivalentTo", source="ORDO:86880/e", source="MONDO:ontobio", source="Orphanet:86880"}
xref: NCIT:C4737 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:EATL {source="MONDO:equivalentTo"}
xref: Orphanet:86880 {source="MONDO:equivalentTo"}
xref: SCTID:277654008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0456889 {source="MONDO:equivalentTo", source="ORDO:86880/e", source="NCIT:C4737", source="Orphanet:86880"}
is_a: MONDO:0015760 {source="MESH:D058527", source="MONDOLEX:0019473", source="NCIT:C4737/inferred", source="Orphanet:86880", source="linkedlifedata", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0018505 {source="MONDO:Redundant", source="Orphanet:86880"} ! obsolete rare tumor of small intestine
property_value: exactMatch http://identifiers.org/meddra/10022703
property_value: exactMatch http://identifiers.org/mesh/D058527
property_value: exactMatch http://identifiers.org/snomedct/277654008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456889
property_value: exactMatch NCIT:C4737
property_value: exactMatch Orphanet:86880
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma xsd:anyURI {source="GARD:0009809"}

[Term]
id: MONDO:0019474
name: hepatosplenic T-cell lymphoma
def: "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." [NCIT:P378]
subset: ordo_disease {source="Orphanet:86882"}
synonym: "Hepatosplenic gamma/Delta T-cell lymphoma" EXACT [NCIT:C8459]
synonym: "HSTCL" RELATED [ONCOTREE:HSTCL]
xref: ICD10:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="ORDO:86882/e"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9716/3 {source="NCIT:C8459"}
xref: MedDRA:10066957 {source="Orphanet:86882", source="ORDO:86882/e"}
xref: NCIT:C8459 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:HSTCL {source="MONDO:equivalentTo"}
xref: Orphanet:86882 {source="MONDO:equivalentTo"}
xref: SCTID:445406001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1333984 {source="Orphanet:86882", source="MONDO:equivalentTo", source="ORDO:86882/e"}
is_a: MONDO:0015760 {source="MONDOLEX:0019474", source="NCIT:C8459/inferred", source="Orphanet:86882", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0522627
property_value: exactMatch http://identifiers.org/meddra/10066957
property_value: exactMatch http://identifiers.org/snomedct/445406001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333984
property_value: exactMatch NCIT:C8459
property_value: exactMatch Orphanet:86882

[Term]
id: MONDO:0019475
name: subcutaneous panniculitis-like T-cell lymphoma
def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." [Orphanet:86884]
subset: ordo_disease {source="Orphanet:86884"}
synonym: "SPTCL" EXACT [ONCOTREE:SPTCL, Orphanet:86884]
synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884]
synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [MONDO:0006433]
synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXACT [NCIT:C6918]
synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918]
synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL" RELATED [OMIM:618398]
xref: EFO:1000552 {source="MONDO:equivalentTo"}
xref: GARD:0010193 {source="MONDO:equivalentTo"}
xref: ICD10:C83.6 {source="Orphanet:86884", source="ORDO:86884/e"}
xref: ICD10:C86.3 {source="MONDO:equivalentTo"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9708/3 {source="NCIT:C6918"}
xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="ORDO:86884/e"}
xref: NCIT:C6918 {source="MONDO:equivalentTo", source="EFO:1000552"}
xref: OMIM:618398 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"}
xref: Orphanet:86884 {source="MONDO:equivalentTo", source="OMIM:618398"}
xref: SCTID:404133000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0522624 {source="NCIT:C6918", source="Orphanet:86884", source="MONDO:equivalentTo", source="OMIM:618398"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma
is_a: MONDO:0015950 ! inherited skin tumor
property_value: exactMatch http://identifiers.org/mesh/C537503
property_value: exactMatch http://identifiers.org/omim/618398
property_value: exactMatch http://identifiers.org/snomedct/404133000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0522624
property_value: exactMatch NCIT:C6918
property_value: exactMatch Orphanet:86884

[Term]
id: MONDO:0019476
name: primary cutaneous peripheral T-cell lymphoma not otherwise specified
subset: ordo_disease {source="Orphanet:86885"}
synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [Orphanet:86885]
synonym: "primary cutaneous unspecified peripheral T-cell lymphoma" EXACT [Orphanet:86885]
xref: ICD10:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="ORDO:86885/ntbt"}
xref: MedDRA:10034623 {source="ORDO:86885/e", source="Orphanet:86885"}
xref: Orphanet:86885 {source="MONDO:equivalentTo"}
is_a: MONDO:0015817 {source="Orphanet:86885"} ! aggressive primary cutaneous T-cell lymphoma
property_value: exactMatch http://identifiers.org/meddra/10034623
property_value: exactMatch http://identifiers.org/mesh/D016411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079774
property_value: exactMatch Orphanet:86885

[Term]
id: MONDO:0019477
name: obsolete angioimmunoblastic T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0004977

[Term]
id: MONDO:0019478
name: adult nodular lymphocyte predominant Hodgkin lymphoma
def: "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults." [NCIT:P378]
subset: ordo_disease {source="Orphanet:86893"}
synonym: "adult NLPHD" EXACT [NCIT:C7942]
synonym: "adult nodular lymphocyte predominant Hodgkin's disease" EXACT [NCIT:C7942]
synonym: "adult nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7942]
synonym: "nodular lymphocyte predominant Hodgkin lymphoma" BROAD [NCIT:C7942]
xref: MEDGEN:231044 {source="UMLS:C1332210"}
xref: NCIT:C7942 {source="MONDO:equivalentTo", source="UMLS:C1332210", source="kboom:pr0.77-conf4.77"}
xref: UMLS:C1332210 {source="MONDO:equivalentTo", source="NCIT:C7942"}
is_a: MONDO:0003660 ! adult lymphoma
is_a: MONDO:0044778 {source="NCIT:C7942"} ! nodular lymphocyte predominant Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/medgen/231044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332210
property_value: exactMatch NCIT:C7942

[Term]
id: MONDO:0019479
name: histiocytic sarcoma
def: "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [NCIT:P378]
subset: ordo_disease {source="Orphanet:86896"}
synonym: "histiocytic sarcoma" EXACT [NCIT:C27349]
synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349]
xref: ICD10:C96.8 {source="ORDO:86896/e", source="Orphanet:86896"}
xref: ICD10:C96.A {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9755/3 {source="NCIT:C27349"}
xref: MESH:D054747 {source="ORDO:86896/e", source="Orphanet:86896", source="MONDO:equivalentTo"}
xref: NCIT:C27349 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:HS {source="MONDO:equivalentTo"}
xref: Orphanet:86896 {source="MONDO:equivalentTo"}
xref: SCTID:109988003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.52"}
xref: UMLS:C0334663 {source="ORDO:86896/e", source="Orphanet:86896", source="MONDO:equivalentTo", source="NCIT:C27349"}
is_a: MONDO:0020081 {source="Orphanet:86896"} ! macrophage or histiocytic tumor
property_value: exactMatch http://identifiers.org/mesh/D054747
property_value: exactMatch http://identifiers.org/snomedct/109988003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334663
property_value: exactMatch NCIT:C27349
property_value: exactMatch Orphanet:86896

[Term]
id: MONDO:0019480
name: Langerhans cell sarcoma
def: "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" [NCIT:C6921]
subset: gard_rare {source="GARD:0010491"}
subset: ordo_disease {source="Orphanet:86897"}
synonym: "Langerhans cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C6921]
synonym: "LCS" RELATED [ONCOTREE:LCS]
synonym: "malignant Langerhans cell sarcoma" RELATED [GARD:0010491]
synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"}
xref: EFO:0007336 {source="MONDO:equivalentTo"}
xref: GARD:0010491 {source="MONDO:equivalentTo"}
xref: ICD10:C96.4 {source="Orphanet:86897", source="ORDO:86897/ntbt", source="DOID:7146"}
xref: ICDO:9756/3 {source="NCIT:C6921"}
xref: MESH:D054752 {source="ORDO:86897/e", source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:7146"}
xref: NCIT:C6921 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7146"}
xref: ONCOTREE:LCS {source="MONDO:equivalentTo"}
xref: Orphanet:86897 {source="MONDO:equivalentTo"}
xref: SCTID:724649000 {source="MONDO:equivalentTo"}
xref: UMLS:C1260327 {source="ORDO:86897/e", source="Orphanet:86897", source="MONDO:equivalentTo", source="NCIT:C6921", source="DOID:7146"}
is_a: MONDO:0004380 {source="DOID:7146", source="MONDO:Entailed", source="MONDO:Redundant"} ! dendritic cell sarcoma
is_a: MONDO:0020082 {source="Orphanet:86897"} ! dendritic cell tumor
property_value: closeMatch http://identifiers.org/snomedct/128814006
property_value: exactMatch DOID:7146
property_value: exactMatch http://identifiers.org/mesh/D054752
property_value: exactMatch http://identifiers.org/snomedct/724649000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260327
property_value: exactMatch NCIT:C6921
property_value: exactMatch Orphanet:86897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma xsd:anyURI {source="GARD:0010491"}

[Term]
id: MONDO:0019481
name: obsolete follicular dendritic cell sarcoma
is_obsolete: true
replaced_by: MONDO:0005764

[Term]
id: MONDO:0019482
name: dendritic cell sarcoma not otherwise specified
subset: ordo_disease {source="Orphanet:86903"}
xref: ICD10:C96.4 {source="ORDO:86903/ntbt", source="Orphanet:86903"}
xref: Orphanet:86903 {source="MONDO:equivalentTo"}
is_a: MONDO:0020082 {source="Orphanet:86903"} ! dendritic cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301364
property_value: exactMatch Orphanet:86903

[Term]
id: MONDO:0019483
name: methotrexate-associated lymphoproliferative disorders
def: "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients." [Orphanet:86904]
subset: ordo_disease {source="Orphanet:86904"}
synonym: "methotrexate-associated lymphoproliferation" EXACT [MONDO:0003657]
synonym: "methotrexate-associated lymphoproliferative disorder" EXACT [NCIT:C7184]
synonym: "MTX-associated lymphoproliferative disorders" EXACT [Orphanet:86904]
synonym: "MTX-LPD" EXACT [Orphanet:86904]
xref: DOID:5821 {source="MONDO:equivalentTo"}
xref: NCIT:C7184 {source="DOID:5821", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:86904 {source="MONDO:equivalentTo"}
xref: UMLS:C1334749 {source="DOID:5821", source="MONDO:equivalentTo", source="NCIT:C7184"}
xref: UMLS:CN206264 {source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="DOID:5821", source="NCIT:C7184"} ! lymphoma
is_a: MONDO:0020083 {source="Orphanet:86904"} ! immunodeficiency-associated lymphoproliferative disease
property_value: exactMatch DOID:5821
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334749
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206264
property_value: exactMatch NCIT:C7184
property_value: exactMatch Orphanet:86904

[Term]
id: MONDO:0019484
name: hypothalamic hamartomas with gelastic seizures
def: "Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." [Orphanet:86906]
subset: ordo_disease {source="Orphanet:86906"}
xref: ICD10:G40.5 {source="ORDO:86906/attributed", source="ORDO:86906/ntbt", source="Orphanet:86906"}
xref: Orphanet:86906 {source="MONDO:equivalentTo"}
is_a: MONDO:0015655 {source="Orphanet:86906"} ! cerebral malformation with epilepsy
property_value: exactMatch Orphanet:86906

[Term]
id: MONDO:0019485
name: idiopathic hemiconvulsion-hemiplegia syndrome
subset: ordo_disease {source="Orphanet:86908"}
synonym: "hemiconvulsion-hemiplegia-epilepsy syndrome" EXACT [Orphanet:86908]
synonym: "HHE syndrome" EXACT [Orphanet:86908]
synonym: "IHHS" EXACT [Orphanet:86908]
xref: ICD10:G40.4 {source="ORDO:86908/ntbt", source="Orphanet:86908"}
xref: Orphanet:86908 {source="MONDO:equivalentTo"}
xref: SCTID:230407006 {source="MONDO:kboom-pr-1.00/0.79/7.75", source="MONDO:equivalentTo"}
is_a: MONDO:0018200 {source="Orphanet:86908"} ! acute encephalopathy with inflammation-mediated status epilepticus
is_a: MONDO:0020071 {source="Orphanet:86908"} ! infantile epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/230407006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0549118
property_value: exactMatch Orphanet:86908

[Term]
id: MONDO:0019486
name: myoclonic epilepsy of infancy
subset: ordo_disease {source="Orphanet:86909"}
synonym: "benign myoclonic epilepsy of infancy" EXACT [Orphanet:86909]
synonym: "benign myoclonus epilepsy of infancy" EXACT [Orphanet:86909]
xref: ICD10:G40.3 {source="Orphanet:86909", source="ORDO:86909/attributed", source="ORDO:86909/ntbt"}
xref: Orphanet:86909 {source="MONDO:equivalentTo"}
xref: UMLS:CN206266 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0100022 {source="Orphanet:86909", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751120
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206266
property_value: exactMatch Orphanet:86909

[Term]
id: MONDO:0019487
name: epilepsy with myoclonic absences
subset: ordo_disease {source="Orphanet:86911"}
xref: ICD10:G40.4 {source="ORDO:86911/ntbt", source="Orphanet:86911"}
xref: Orphanet:86911 {source="MONDO:equivalentTo"}
xref: SCTID:230422001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.22"}
is_a: MONDO:0017654 {source="Orphanet:86911"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0020072 {source="Orphanet:86911", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393703
property_value: exactMatch http://identifiers.org/snomedct/230422001
property_value: exactMatch Orphanet:86911

[Term]
id: MONDO:0019488
name: myoclonic epilepsy in non-progressive encephalopathies
subset: ordo_malformation_syndrome {source="Orphanet:86913"}
synonym: "myoclonic status in non-progressive encephalopathies" EXACT [Orphanet:86913]
synonym: "myoclonus epilepsy in non-progressive encephalopathies" EXACT [Orphanet:86913]
xref: ICD10:G40.4 {source="ORDO:86913/attributed", source="ORDO:86913/ntbt", source="Orphanet:86913"}
xref: Orphanet:86913 {source="MONDO:equivalentTo"}
is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome
property_value: exactMatch Orphanet:86913

[Term]
id: MONDO:0019489
name: diffuse palmoplantar keratoderma - acrocyanosis syndrome
def: "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." [Orphanet:86918]
subset: ordo_disease {source="Orphanet:86918"}
synonym: "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" EXACT [Orphanet:86918]
xref: ICD10:Q82.8 {source="ORDO:86918/attributed", source="ORDO:86918/ntbt", source="Orphanet:86918"}
xref: Orphanet:86918 {source="MONDO:equivalentTo"}
xref: UMLS:CN206272 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020094 {source="Orphanet:86918"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206272
property_value: exactMatch Orphanet:86918

[Term]
id: MONDO:0019490
name: progressive familial heart block
def: "Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." [Orphanet:871]
subset: ordo_disease {source="Orphanet:871"}
synonym: "familial Lenegre disease" EXACT [DOID:0111073]
synonym: "familial Lenègre disease" EXACT [Orphanet:871]
synonym: "familial Lev disease" EXACT [DOID:0111073, Orphanet:871]
synonym: "familial Lev-Lenegre disease" EXACT [DOID:0111073]
synonym: "familial Lev-Lenègre disease" EXACT [Orphanet:871]
synonym: "familial PCCD" EXACT [DOID:0111073, Orphanet:871]
synonym: "familial progressive cardiac conduction defect" RELATED [Orphanet:871]
synonym: "familial progressive heart block" EXACT [DOID:0111073, Orphanet:871]
synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871]
synonym: "PFHB" EXACT [DOID:0111073]
xref: DC:0000374 {source="MONDO:equivalentTo"}
xref: DOID:0111073 {source="MONDO:equivalentTo"}
xref: GARD:0010005 {source="MONDO:equivalentTo"}
xref: ICD10:I45.8 {source="ORDO:871/attributed", source="ORDO:871/ntbt", source="Orphanet:871"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:113900 {source="DC:0000374", source="MONDO:equivalentTo", source="DOID:0111073"}
xref: Orphanet:871 {source="MONDO:equivalentTo", source="DOID:0111073"}
xref: SCTID:698249005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:93130009 {source="MONDO:equivalentTo"}
xref: UMLS:CN206278 {source="MONDO:equivalentTo"}
is_a: MONDO:0015110 {source="Orphanet:871"} ! genetic cardiac rhythm disease
is_a: MONDO:0020755 ! heart block
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1879286
property_value: exactMatch DOID:0111073
property_value: exactMatch http://identifiers.org/snomedct/698249005
property_value: exactMatch http://identifiers.org/snomedct/93130009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206278
property_value: exactMatch Orphanet:871

[Term]
id: MONDO:0019491
name: obsolete rare intellectual disability
def: "Rare intellectual disability." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:87277"}
synonym: "rare intellectual disability" EXACT [MONDO:patterns/rare]
xref: Orphanet:87277 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227638 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227638
property_value: exactMatch Orphanet:87277
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001071

[Term]
id: MONDO:0019492
name: obsolete desmoid tumor
is_obsolete: true
replaced_by: MONDO:0007608

[Term]
id: MONDO:0019493
name: primary adult heart tumor
def: "adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma (see this term) comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." [Orphanet:874]
subset: ordo_disease {source="Orphanet:874"}
synonym: "adult cardiac tumor" EXACT [Orphanet:874]
synonym: "adult heart tumor" EXACT [Orphanet:874]
xref: ICD10:C38.0 {source="Orphanet:874", source="ORDO:874/ntbt"}
xref: ICD10:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="ORDO:874/ntbt"}
xref: Orphanet:874 {source="MONDO:equivalentTo"}
xref: SCTID:715403006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C4275152 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206280 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021209 {source="Orphanet:874"} ! heart neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015673"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/715403006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206280
property_value: exactMatch Orphanet:874

[Term]
id: MONDO:0019494
name: primary pediatric heart tumor
def: "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." [Orphanet:875]
subset: ordo_disease {source="Orphanet:875"}
synonym: "Cardiac tumor of child" EXACT [Orphanet:875]
synonym: "heart tumor of child" EXACT [Orphanet:875]
synonym: "pediatric heart neoplasm" EXACT [MONDO:cjm]
xref: ICD10:C38.0 {source="Orphanet:875", source="ORDO:875/ntbt"}
xref: ICD10:D15.1 {source="MONDO:relatedTo", source="Orphanet:875", source="ORDO:875/ntbt"}
xref: Orphanet:875 {source="MONDO:equivalentTo"}
xref: UMLS:CN206281 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021209 {source="Orphanet:875"} ! heart neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015673"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206281
property_value: exactMatch Orphanet:875

[Term]
id: MONDO:0019495
name: obsolete yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0005744

[Term]
id: MONDO:0019496
name: neuroendocrine neoplasm
def: "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)." [Orphanet:877]
comment: Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass
subset: ordo_group_of_disorders {source="Orphanet:877"}
synonym: "APUDoma" EXACT [Orphanet:877]
synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809]
synonym: "neuroendocrine tumor" EXACT [NCIT:C3809]
xref: COHD:434300 {source="MONDO:equivalentTo"}
xref: DOID:169 {source="MONDO:equivalentTo"}
xref: EFO:1001901 {source="MONDO:equivalentTo"}
xref: ICD10:D3A.8 {source="DOID:169"}
xref: ICD9:209 {source="DOID:169"}
xref: ICD9:209-209.99 {source="DOID:169"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D018358 {source="MONDO:equivalentTo", source="DOID:169"}
xref: NCIT:C3809 {source="MONDO:equivalentTo", source="DOID:169"}
xref: Orphanet:877 {source="MONDO:equivalentTo"}
xref: SCTID:255046005 {source="MONDO:equivalentTo", source="DOID:169"}
xref: UMLS:C0003650 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:877", source="MONDO:equivalentTo"}
xref: UMLS:C0206754 {source="Orphanet:877", source="MONDO:equivalentTo", source="NCIT:C3809", source="DOID:169"}
xref: UMLS:CN206284 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002082 {source="EFO:1001901", source="MONDO:Redundant", source="NCIT:C3809", source="Orphanet:877", source="indirect"} ! endocrine gland neoplasm
relationship: disease_has_feature MONDO:0001517 {source="Wikidata"} ! dysentery
property_value: closeMatch http://identifiers.org/snomedct/128928004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014132
property_value: exactMatch DOID:169
property_value: exactMatch http://identifiers.org/mesh/D018358
property_value: exactMatch http://identifiers.org/snomedct/255046005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206754
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206284
property_value: exactMatch NCIT:C3809
property_value: exactMatch Orphanet:877

[Term]
id: MONDO:0019497
name: nonsyndromic genetic deafness
def: "A disease characterized by hearing loss that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:87884"}
synonym: "familial deafness" RELATED [GARD:0006410]
synonym: "isolated genetic deafness" EXACT [Orphanet:87884]
synonym: "non-syndromic genetic deafness" RELATED [Orphanet:87884]
synonym: "nonsyndromic deafness" RELATED [DOID:0050563]
synonym: "nonsyndromic hearing loss" BROAD [DOID:0050563]
synonym: "nonsyndromic hearing loss" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563]
xref: DOID:0050563 {source="MONDO:equivalentTo"}
xref: EFO:0009076 {source="MONDO:equivalentTo"}
xref: GARD:0006410 {source="MONDO:equivalentTo"}
xref: ICD10:H90.5 {source="Orphanet:87884", source="ORDO:87884/specific", source="ORDO:87884/e"}
xref: MESH:C580334 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:87884 {source="MONDO:equivalentTo"}
xref: UMLS:CN043648 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="EFO:0009076/inferred", source="MESH:C580334/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:87884", source="indirect"} ! hearing loss disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch DOID:0050563
property_value: exactMatch http://identifiers.org/mesh/C580334
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043648
property_value: exactMatch Orphanet:87884
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6410/familial-deafness xsd:anyURI {source="GARD:0006410"}

[Term]
id: MONDO:0019498
name: tungiasis
def: "An disease or disorder caused by infection with Tunga penetrans." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="GARD:0000393"}
subset: ordo_disease {source="Orphanet:879"}
synonym: "chigger flea" RELATED [GARD:0000393]
synonym: "S penetrans" RELATED [GARD:0000393]
synonym: "Sarcopsylla penetrans" RELATED [GARD:0000393]
synonym: "T penetrans" RELATED [GARD:0000393]
synonym: "Tunga penetrans" RELATED [GARD:0000393]
synonym: "Tunga penetrans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tunga penetrans disease or disorder" EXACT []
synonym: "Tunga penetrans infectious disease" EXACT []
xref: DOID:0050266 {source="MONDO:equivalentTo"}
xref: EFO:1001445 {source="MONDO:equivalentTo"}
xref: GARD:0000393 {source="MONDO:equivalentTo"}
xref: ICD10:B88.1 {source="ORDO:879/e", source="Orphanet:879"}
xref: ICD9:134.1 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D058285 {source="ORDO:879/e", source="MONDO:equivalentTo", source="Orphanet:879", source="MONDO:ontobio"}
xref: Orphanet:879 {source="MONDO:equivalentTo"}
xref: SCTID:64612002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
xref: UMLS:C0277356 {source="MONDO:equivalentTo", source="Orphanet:879"}
is_a: MONDO:0002875 {source="DOID:0050266", source="MESH:D058285/inferred"} ! parasitic ectoparasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015577", source="MONDO:0019519"} ! rare
property_value: exactMatch DOID:0050266
property_value: exactMatch http://identifiers.org/mesh/D058285
property_value: exactMatch http://identifiers.org/snomedct/64612002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277356
property_value: exactMatch Orphanet:879
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/393/tungiasis xsd:anyURI {source="GARD:0000393"}

[Term]
id: MONDO:0019499
name: Turner syndrome
def: "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." [Orphanet:881]
comment: Editor note: consider splitting BU syndrome
subset: gard_rare {source="GARD:0007831"}
subset: ordo_malformation_syndrome {source="Orphanet:881"}
synonym: "45, X syndrome" RELATED [GARD:0007831]
synonym: "45,X gonadal dysgenesis" EXACT [NCIT:C26900]
synonym: "45,X syndrome" EXACT [Orphanet:881]
synonym: "45,X/46,XX syndrome" EXACT [Orphanet:881]
synonym: "45,X0 syndrome" EXACT [NCIT:C26900]
synonym: "45X syndrome" EXACT [NCIT:C26900]
synonym: "Bonnevie-Ullrich syndrome" EXACT [DOID:3491]
synonym: "Bonnevie-Ulrich syndrome" RELATED [GARD:0007831]
synonym: "chromosome X monosomy X" RELATED [GARD:0007831]
synonym: "genital dwarfism" RELATED [GARD:0002458]
synonym: "genital dwarfism, Turner type" RELATED [GARD:0002459]
synonym: "gonadal dysgenesis" EXACT [NCIT:C26900]
synonym: "gonadal dysgenesis (45,X)" RELATED [GARD:0007831]
synonym: "gonadal dysgenesis - Turner" EXACT [DOID:3491]
synonym: "gonadal dysgenesis Turner type" RELATED [GARD:0002540]
synonym: "karyotype 45, X" EXACT [DOID:3491]
synonym: "monosomy X" EXACT [DOID:3491, NCIT:C36630]
synonym: "monosomy X syndrome" EXACT [CSP2005:1254-8447, DOID:3491]
synonym: "Schereshevkii Turner syndrome" RELATED [GARD:0007831]
synonym: "Turner Varny syndrome" RELATED [GARD:0007831]
synonym: "Ullrich-Turner syndrome" RELATED [GARD:0007831]
synonym: "XO syndrome" EXACT [DOID:3491, MTHICD9_2006:758.6]
xref: COHD:4307885 {source="MONDO:equivalentTo"}
xref: DOID:3491 {source="MONDO:equivalentTo"}
xref: GARD:0002458 {source="MONDO:equivalentTo"}
xref: GARD:0002459 {source="MONDO:equivalentTo"}
xref: GARD:0002540 {source="MONDO:equivalentTo"}
xref: GARD:0007831 {source="MONDO:equivalentTo"}
xref: ICD10:Q96 {source="DOID:3491"}
xref: ICD10:Q96.0 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881", source="DOID:3491"}
xref: ICD10:Q96.1 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"}
xref: ICD10:Q96.2 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"}
xref: ICD10:Q96.3 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"}
xref: ICD10:Q96.4 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"}
xref: ICD10:Q96.8 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"}
xref: ICD10:Q96.9 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881", source="DOID:3491"}
xref: ICD9:758.7 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10045181 {source="ORDO:881/e", source="Orphanet:881"}
xref: MESH:D014424 {source="MONDO:equivalentTo", source="ORDO:881/e", source="Orphanet:881", source="DOID:3491"}
xref: NCIT:C26900 {source="MONDO:equivalentTo", source="DOID:3491"}
xref: Orphanet:881 {source="MONDO:equivalentTo"}
xref: SCTID:38804009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.67/0.23", source="DOID:3491"}
xref: UMLS:C0041408 {source="MONDO:equivalentTo", source="GARD:0002458", source="NCIT:C26900", source="ORDO:881/e", source="Orphanet:881", source="DOID:3491"}
is_a: MONDO:0001967 {source="DOID:3491", source="MESH:D014424", source="NCIT:C26900"} ! gonadal dysgenesis
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015218 {source="Orphanet:881"} ! syndromic developmental defect of the eye
is_a: MONDO:0015620 {source="Orphanet:881"} ! syndromic urogenital tract malformation
is_a: MONDO:0017000 {source="Orphanet:881"} ! X chromosome number anomaly with female phenotype
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017975 {source="MESH:D014424", source="Orphanet:881"} ! sex chromosome disorder of sex development
is_a: MONDO:0017978 {source="Orphanet:881"} ! syndrome with disorder of sex development of gynecological interest
is_a: MONDO:0018402 {source="Orphanet:881"} ! female infertility due to gonadal dysgenesis
is_a: MONDO:0018792 {source="Orphanet:881"} ! Moyamoya syndrome
is_a: MONDO:0019721 {source="Orphanet:881"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0019852 {source="Orphanet:881"} ! inherited primary ovarian failure
is_a: MONDO:0020165 {source="Orphanet:881"} ! syndromic epicanthus
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:881"} ! chromosomal anomaly with cataract
property_value: closeMatch http://identifiers.org/snomedct/157020008
property_value: closeMatch http://identifiers.org/snomedct/205685008
property_value: closeMatch http://identifiers.org/snomedct/205691005
property_value: closeMatch http://identifiers.org/snomedct/254279009
property_value: closeMatch http://identifiers.org/snomedct/268299006
property_value: closeMatch http://identifiers.org/snomedct/268356004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242526
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527168
property_value: closeMatch NCIT:C34434
property_value: closeMatch NCIT:C85210
property_value: exactMatch DOID:3491
property_value: exactMatch http://identifiers.org/meddra/10045181
property_value: exactMatch http://identifiers.org/mesh/D014424
property_value: exactMatch http://identifiers.org/snomedct/38804009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041408
property_value: exactMatch NCIT:C26900
property_value: exactMatch Orphanet:881
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism xsd:anyURI {source="GARD:0002458"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type xsd:anyURI {source="GARD:0002540"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome xsd:anyURI {source="GARD:0007831"}

[Term]
id: MONDO:0019500
name: extragonadal teratoma
def: "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." [Orphanet:883]
subset: ordo_disease {source="Orphanet:883"}
xref: MedDRA:10043276 {source="ORDO:883/e", source="Orphanet:883"}
xref: Orphanet:883 {source="MONDO:equivalentTo"}
xref: SCTID:768937006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020539 {source="Orphanet:883"} ! extragonadal non-dysgerminomatous germ cell tumor
property_value: exactMatch http://identifiers.org/meddra/10043276
property_value: exactMatch http://identifiers.org/mesh/D013724
property_value: exactMatch http://identifiers.org/snomedct/768937006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039538
property_value: exactMatch Orphanet:883

[Term]
id: MONDO:0019501
name: Usher syndrome
def: "Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." [Orphanet:886]
subset: ordo_disease {source="Orphanet:886"}
synonym: "deafness-retinitis pigmentosa syndrome" RELATED [GARD:0007843]
synonym: "dystrophia retinae pigmentosa-dysostosis syndrome" RELATED [GARD:0007843]
synonym: "Graefe-Usher syndrome" RELATED [GARD:0007843]
synonym: "Hallgren syndrome" RELATED [GARD:0007843]
synonym: "retinitis pigmentosa-deafness syndrome" EXACT [Orphanet:886]
synonym: "ush" EXACT [Orphanet:886]
synonym: "Usher's syndrome" RELATED [GARD:0007843]
xref: DOID:0050439 {source="MONDO:equivalentTo"}
xref: GARD:0007843 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="Orphanet:886", source="ORDO:886/attributed", source="ORDO:886/ntbt"}
xref: MedDRA:10063396 {source="Orphanet:886", source="ORDO:886/e"}
xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="DOID:0050439", source="ORDO:886/e"}
xref: NCIT:C85217 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050439"}
xref: OMIMPS:276900 {source="MONDO:equivalentTo", source="DOID:0050439"}
xref: Orphanet:886 {source="MONDO:equivalentTo", source="DOID:0050439"}
xref: UMLS:C0271097 {source="NCIT:C85217", source="Orphanet:886", source="MONDO:equivalentTo", source="DOID:0050439", source="ORDO:886/e"}
is_a: MONDO:0006025 {source="DOID:0050439", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019589 {source="Orphanet:886"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:886"} ! syndromic retinitis pigmentosa
property_value: closeMatch http://identifiers.org/snomedct/73119000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931205
property_value: exactMatch DOID:0050439
property_value: exactMatch http://identifiers.org/meddra/10063396
property_value: exactMatch http://identifiers.org/mesh/D052245
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271097
property_value: exactMatch NCIT:C85217
property_value: exactMatch Orphanet:886

[Term]
id: MONDO:0019502
name: autosomal recessive non-syndromic intellectual disability
def: "Autosomal recessive form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_recessive]
comment: Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407
synonym: "AR-NSID" EXACT [Orphanet:88616]
synonym: "autosomal recessive mental retardation" EXACT [DOID:0060308]
synonym: "autosomal recessive non-syndromic mental retardation" EXACT [DOID:0060308]
synonym: "mental retardation, autosomal recessive" EXACT [OMIMPS:249500]
synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "NS-ARID" EXACT [Orphanet:88616]
xref: DOID:0060308 {source="MONDO:equivalentTo"}
xref: OMIMPS:249500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"}
xref: UMLS:CN206293 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:88616"} ! non-syndromic intellectual disability
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060308
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206293
property_value: exactMatch Orphanet:88616

[Term]
id: MONDO:0019503
name: anterior segment dysgenesis
def: "a spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." [https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:88632"}
synonym: "anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025]
synonym: "anterior segment ocular dysgenesis" EXACT [GARD:0010025]
synonym: "ASGD" EXACT [MONDO:cjm]
synonym: "ASMD" EXACT [GARD:0010025]
synonym: "ASOD" EXACT [GARD:0010025]
synonym: "familial ocular anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025]
synonym: "FOXE3-related ocular disorder" RELATED EXCLUDE [GARD:0010025]
xref: DC:0000735 {source="MONDO:equivalentTo"}
xref: GARD:0010025 {source="MONDO:equivalentTo"}
xref: ICD10:Q13.8 {source="Orphanet:88632", source="ORDO:88632/attributed", source="ORDO:88632/ntbt"}
xref: ICD9:743.49 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:107250 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:88632 {source="GARD:0010025", source="MONDO:equivalentTo"}
xref: SCTID:65075004 {source="MONDO:kboom-pr-1.00/0.79/8.22", source="MONDO:equivalentTo"}
is_a: MONDO:0020149 {source="Orphanet:88632"} ! rare eye disease due to a differentiation anomaly
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:88632"} ! non-syndromic developmental defect of the eye
property_value: exactMatch http://identifiers.org/snomedct/65075004
property_value: exactMatch Orphanet:88632

[Term]
id: MONDO:0019504
name: superior limbic keratoconjunctivitis
def: "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera ) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea ). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism ), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." [https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis]
subset: gard_rare {source="GARD:0010940"}
subset: ordo_disease {source="Orphanet:88633"}
synonym: "SLK" EXACT [Orphanet:88633]
synonym: "Theodore's superior limbic keratoconjunctivitis" EXACT [Orphanet:88633]
synonym: "Theodore's syndrome" EXACT [Orphanet:88633]
synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940]
synonym: "Theodores syndrome" RELATED [GARD:0010940]
xref: GARD:0010940 {source="MONDO:equivalentTo"}
xref: ICD10:H16.2 {source="MONDO:relatedTo", source="Orphanet:88633", source="ORDO:88633/ntbt"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:88633 {source="MONDO:equivalentTo"}
xref: SCTID:231903005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0339229 {source="Orphanet:88633", source="MONDO:equivalentTo", source="ORDO:88633/e"}
is_a: MONDO:0015937 {source="Orphanet:88633"} ! rare inflammatory eye disease
property_value: exactMatch http://identifiers.org/snomedct/231903005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339229
property_value: exactMatch Orphanet:88633
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis xsd:anyURI {source="GARD:0010940"}

[Term]
id: MONDO:0019505
name: hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
def: "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637]
subset: ordo_disease {source="Orphanet:88637"}
synonym: "4H syndrome" EXACT [Orphanet:88637]
xref: ICD10:G11.1 {source="Orphanet:88637", source="ORDO:88637/attributed", source="ORDO:88637/ntbt"}
xref: Orphanet:88637 {source="MONDO:equivalentTo"}
xref: UMLS:CN206304 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015890 {source="Orphanet:88637"} ! rare disorder with congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0011897 {source="ORDO:88637/ntbt", source="Orphanet:88637"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206304
property_value: exactMatch Orphanet:88637

[Term]
id: MONDO:0019506
name: obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
def: "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." [Orphanet:88643]
subset: ordo_disease {source="Orphanet:88643"}
xref: Orphanet:88643 {source="MONDO:equivalentTo"}
xref: SCTID:722051004 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
xref: UMLS:CN227640 {source="MONDO:equivalentTo"}
is_a: MONDO:0015778 {source="Orphanet:88643"} ! syndromic hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/722051004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227640
property_value: exactMatch Orphanet:88643

[Term]
id: MONDO:0019507
name: amelogenesis imperfecta
def: "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." [Orphanet:88661]
subset: clingen
subset: gard_rare {source="GARD:0005791"}
subset: ordo_disease {source="Orphanet:88661"}
xref: CSP:0828-0533 {source="DOID:2187"}
xref: DOID:2187 {source="MONDO:equivalentTo"}
xref: GARD:0005791 {source="MONDO:equivalentTo"}
xref: ICD10:K00.5 {source="DOID:2187", source="ORDO:88661/inclusion", source="ORDO:88661/ntbt", source="Orphanet:88661"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000567 {source="DOID:2187", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:88661/e", source="Orphanet:88661"}
xref: OMIMPS:104500 {source="DOID:2187", source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:88661 {source="DOID:2187", source="MONDO:equivalentTo"}
xref: SCTID:78494001 {source="DOID:2187", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0004038 {source="DOID:2187", source="MESH:D000567"} ! dental enamel hypoplasia
is_a: MONDO:0015603 {source="Orphanet:88661"} ! rare odontal or periodontal disorder
is_a: MONDO:0018488 {source="Orphanet:88661"} ! rare genetic odontal or periodontal disorder
property_value: exactMatch DOID:2187
property_value: exactMatch http://identifiers.org/mesh/D000567
property_value: exactMatch http://identifiers.org/snomedct/78494001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002452
property_value: exactMatch Orphanet:88661
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta xsd:anyURI {source="GARD:0005791"}

[Term]
id: MONDO:0019508
name: van der Woude syndrome
def: "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." [Orphanet:888]
subset: ordo_malformation_syndrome {source="Orphanet:888"}
synonym: "cleft lip and/or palate with mucous cysts of lower lip" RELATED [GARD:0008414]
synonym: "cleft lip/palate with mucous cysts of lower lip" EXACT [Orphanet:888]
synonym: "lip pit syndrome" RELATED [GARD:0008414]
synonym: "lip-pit syndrome" EXACT [Orphanet:888]
synonym: "lip-pit syndrome" RELATED [DOID:0060239]
synonym: "LPS" RELATED [GARD:0008414]
synonym: "VWS" EXACT [Orphanet:888]
xref: DOID:0060239 {source="MONDO:equivalentTo"}
xref: GARD:0008414 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q38.0 {source="Orphanet:888", source="DOID:0060239", source="ORDO:888/inclusion", source="ORDO:888/ntbt"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536528 {source="ORDO:888/e", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239"}
xref: NCIT:C74986 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:0060239"}
xref: Orphanet:888 {source="MONDO:equivalentTo", source="DOID:0060239"}
xref: SCTID:79261008 {source="MONDO:equivalentTo", source="DOID:0060239", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0175697 {source="ORDO:888/e", source="NCIT:C74986", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239"}
is_a: MONDO:0002254 {source="DOID:0060239", source="MONDOLEX:0019508", source="NCIT:C74986"} ! syndromic disease
is_a: MONDO:0015501 {source="Orphanet:888"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043008 {source="Orphanet:888"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: broadMatch http://identifiers.org/omim/604547
property_value: closeMatch http://identifiers.org/mesh/C563529
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834339
property_value: exactMatch DOID:0060239
property_value: exactMatch http://identifiers.org/mesh/C536528
property_value: exactMatch http://identifiers.org/snomedct/79261008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175697
property_value: exactMatch NCIT:C74986
property_value: exactMatch Orphanet:888

[Term]
id: MONDO:0019509
name: cutaneous leukocytoclastic angiitis
def: "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." [Orphanet:889]
subset: ordo_disease {source="Orphanet:889"}
synonym: "cutaneous hypersensitivity vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous leukocytoclastic vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous small vessel vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous small-vessel vasculitis" EXACT [NCIT:C122919]
synonym: "hypersensitivity angiitis" EXACT [Orphanet:889]
synonym: "leukocytoclastic angiitis" RELATED [GARD:0007851]
xref: COHD:196431 {source="MONDO:equivalentTo"}
xref: GARD:0007851 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M31.0 {source="Orphanet:889", source="ORDO:889/ntbt"}
xref: NCIT:C122919 {source="MONDO:equivalentTo"}
xref: Orphanet:889 {source="MONDO:equivalentTo"}
xref: SCTID:718217000 {source="MONDO:kboom-pr-0.92/0.77/0.95", source="MONDO:equivalentTo"}
is_a: MONDO:0015491 {source="Orphanet:889"} ! immune complex mediated vasculitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151436
property_value: exactMatch http://identifiers.org/snomedct/718217000
property_value: exactMatch NCIT:C122919
property_value: exactMatch Orphanet:889

[Term]
id: MONDO:0019510
name: autosomal dominant medullary cystic kidney disease without hyperuricemia
subset: ordo_clinical_subtype {source="Orphanet:88949"}
synonym: "ADMCKD1" RELATED [GARD:0007002]
synonym: "ADTKD-MUC1" EXACT [Orphanet:88949]
synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:88949]
synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88949]
synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949]
xref: GARD:0007002 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q61.5 {source="ORDO:88949/attributed", source="ORDO:88949/ntbt", source="Orphanet:88949"}
xref: Orphanet:88949 {source="MONDO:equivalentTo"}
xref: UMLS:CN206321 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008264 {source="Orphanet:88949"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206321
property_value: exactMatch Orphanet:88949

[Term]
id: MONDO:0019511
name: autosomal dominant medullary cystic kidney disease with hyperuricemia
subset: ordo_clinical_subtype {source="Orphanet:88950"}
synonym: "ADMCKD2" RELATED [GARD:0010679]
synonym: "ADTKD-UMOD" EXACT [Orphanet:88950]
synonym: "autosomal dominant medullary cystic kidney disease type 2" EXACT [Orphanet:88950]
synonym: "UMOD-related ADTKD" EXACT [Orphanet:88950]
synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88950]
xref: GARD:0010679 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q61.5 {source="Orphanet:88950", source="ORDO:88950/attributed", source="ORDO:88950/ntbt"}
xref: Orphanet:88950 {source="MONDO:equivalentTo"}
xref: UMLS:CN206322 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008264 {source="Orphanet:88950"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206322
property_value: exactMatch Orphanet:88950

[Term]
id: MONDO:0019512
name: congenital heart malformation
def: "A disease that has its basis in the disruption of heart development." [MONDO:patterns/basis_in_disruption_of_process]
subset: ordo_group_of_disorders {source="Orphanet:88991"}
synonym: "congenital heart malformation" EXACT [MONDO:0005472]
synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991]
synonym: "disorder of heart development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of heart development" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "heart development disease" EXACT [MONDO:design_pattern]
synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991]
xref: EFO:0005269 {source="MONDO:equivalentTo"}
xref: Orphanet:88991 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0024239 ! congenital anomaly of cardiovascular system
relationship: has_modifier MONDO:0021136 {source="MONDO:0020003"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018798
property_value: exactMatch Orphanet:88991

[Term]
id: MONDO:0019513
name: esophageal malformation
subset: ordo_group_of_disorders {source="Orphanet:88993"}
xref: Orphanet:88993 {source="MONDO:equivalentTo"}
is_a: MONDO:0003749 ! esophageal disease
is_a: MONDO:0020019 {source="Orphanet:88993"} ! digestive tract malformation
property_value: exactMatch Orphanet:88993

[Term]
id: MONDO:0019514
name: hepatic veno-occlusive disease
def: "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." [Orphanet:890]
subset: gard_rare {source="GARD:0013004"}
subset: ordo_disease {source="Orphanet:890"}
synonym: "hepatic Vod" EXACT [Orphanet:890-text]
synonym: "liver veno-occlusive disease" EXACT [NCIT:C26793]
synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890]
synonym: "veno-occlusive disease" EXACT [DOID:0080177]
xref: DOID:0080177 {source="MONDO:equivalentTo"}
xref: GARD:0013004 {source="MONDO:equivalentTo"}
xref: ICD10:K76.5 {source="DOID:0080177", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890"}
xref: ICD9:453.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10047216 {source="ORDO:890/e", source="Orphanet:890"}
xref: MESH:D006504 {source="DOID:0080177", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890", source="MONDO:ontobio"}
xref: NCIT:C26793 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.76/0.10"}
xref: Orphanet:890 {source="MONDO:equivalentTo"}
xref: SCTID:65617004 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"}
xref: UMLS:C0019156 {source="NCIT:C26793", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890"}
is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793", source="linkedlifedata", source="linkedlifedata/inferred"} ! hepatic vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: exactMatch DOID:0080177
property_value: exactMatch http://identifiers.org/meddra/10047216
property_value: exactMatch http://identifiers.org/mesh/D006504
property_value: exactMatch http://identifiers.org/snomedct/65617004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019156
property_value: exactMatch NCIT:C26793
property_value: exactMatch Orphanet:890
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease xsd:anyURI {source="GARD:0013004"}

[Term]
id: MONDO:0019515
name: obsolete rare dementia
def: "Rare dementia." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:89043"}
synonym: "rare dementia" EXACT [MONDO:patterns/rare]
xref: Orphanet:89043 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227644 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227644
property_value: exactMatch Orphanet:89043
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001627

[Term]
id: MONDO:0019516
name: exudative vitreoretinopathy
def: "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." [Orphanet:891]
subset: ordo_disease {source="Orphanet:891"}
synonym: "Criswick-Schepens syndrome" EXACT [Orphanet:891]
synonym: "exudative vitreoretinopathy, familial" RELATED [GARD:0001613]
synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535]
synonym: "FEVR" EXACT [DOID:0050535, Orphanet:891]
xref: DOID:0050535 {source="MONDO:equivalentTo"}
xref: GARD:0001613 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H35.0 {source="ORDO:891/inclusion", source="ORDO:891/ntbt", source="Orphanet:891"}
xref: ICD10:H35.00 {source="DOID:0050535"}
xref: ICD9:362.10 {source="DOID:0050535"}
xref: MESH:C580083 {source="MONDO:equivalentTo"}
xref: OMIMPS:133780 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="DOID:0050535", source="MONDO:equivalentTo"}
xref: SCTID:232063007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4072980 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002311 {source="DOID:0050535"} ! retinal vascular disease
is_a: MONDO:0015953 {source="Orphanet:891"} ! genetic central nervous system and retinal vascular disease
is_a: MONDO:0020248 {source="Orphanet:891"} ! vitreoretinal degeneration
property_value: closeMatch http://identifiers.org/snomedct/193355009
property_value: closeMatch http://identifiers.org/snomedct/31411005
property_value: closeMatch http://identifiers.org/snomedct/42873008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004608
property_value: exactMatch DOID:0050535
property_value: exactMatch http://identifiers.org/mesh/C580083
property_value: exactMatch http://identifiers.org/snomedct/232063007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339539
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4072980
property_value: exactMatch Orphanet:891

[Term]
id: MONDO:0019517
name: Waardenburg syndrome type 2
def: "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." [Orphanet:895]
subset: gard_rare {source="GARD:0005520"}
subset: ordo_clinical_subtype {source="Orphanet:895"}
synonym: "Waardenburg syndrome type II" EXACT [Orphanet:895]
synonym: "WS 2" RELATED [GARD:0005520]
synonym: "WS type 2" RELATED [GARD:0005520]
synonym: "WS2" EXACT [Orphanet:895]
xref: GARD:0005520 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="ORDO:895/attributed", source="ORDO:895/ntbt"}
xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="ORDO:895/e"}
xref: NCIT:C75009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:895 {source="MONDO:equivalentTo"}
xref: UMLS:C2700265 {source="NCIT:C75009", source="Orphanet:895", source="MONDO:equivalentTo", source="ORDO:895/e"}
is_a: MONDO:0018094 {source="NCIT:C75009", source="Orphanet:895"} ! Waardenburg syndrome
property_value: exactMatch http://identifiers.org/mesh/C536463
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2700265
property_value: exactMatch NCIT:C75009
property_value: exactMatch Orphanet:895
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 xsd:anyURI {source="GARD:0005520"}

[Term]
id: MONDO:0019518
name: Waardenburg-Shah syndrome
def: "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and Hirschsprung disease (see this term)." [Orphanet:897]
subset: gard_rare {source="GARD:0005524"}
subset: ordo_disease {source="Orphanet:897"}
synonym: "Hirschsprung disease with pigmentary anomaly" RELATED [GARD:0005524]
synonym: "Shah-Waardenburg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, Orphanet:897]
synonym: "Waardenburg syndrome type 4" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, NCIT:C124842, Orphanet:897]
synonym: "Waardenburg syndrome type IV" EXACT [NCIT:C124842]
synonym: "Waardenburg-Hirschsprung disease" RELATED [GARD:0005524]
synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897]
synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842]
synonym: "WS4" EXACT [Orphanet:897]
xref: GARD:0005524 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:897", source="ORDO:897/attributed", source="ORDO:897/ntbt"}
xref: NCIT:C124842 {source="MONDO:equivalentTo"}
xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"}
xref: UMLS:CN206330 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018094 {source="NCIT:C124842"} ! Waardenburg syndrome
is_a: MONDO:0020276 {source="Orphanet:897"} ! pigmentation disorder with eye involvement, excluding albinism
is_a: MONDO:0021189 {source="Orphanet:897"} ! intestinal motility disease
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848519
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3266898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206330
property_value: exactMatch NCIT:C124842
property_value: exactMatch Orphanet:897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 xsd:anyURI {source="GARD:0005524"}

[Term]
id: MONDO:0019519
name: obsolete rare skin disease
def: "Rare skin disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:89826"}
synonym: "rare skin disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:89826 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206332 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206332
property_value: exactMatch Orphanet:89826
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005093

[Term]
id: MONDO:0019520
name: syndromic lymphedema
def: "A lymphedema that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:89832"}
synonym: "syndrome associated with lymphedema" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with lymphedema" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic lymphedema" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:89832 {source="MONDO:equivalentTo"}
xref: UMLS:CN227645 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019297 {source="MONDO:Redundant", source="Orphanet:89832"} ! lymphedema
intersection_of: MONDO:0019297 ! lymphedema
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227645
property_value: exactMatch Orphanet:89832

[Term]
id: MONDO:0019521
name: centripetalis recessive dystrophic epidermolysis bullosa
def: "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." [Orphanet:89841]
subset: ordo_disease {source="Orphanet:89841"}
synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [Orphanet:89841]
synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:89841]
synonym: "RDEB, centripetalis" EXACT [Orphanet:89841]
synonym: "RDEB-Ce" EXACT [Orphanet:89841]
xref: ICD10:Q81.2 {source="Orphanet:89841", source="ORDO:89841/attributed", source="ORDO:89841/ntbt"}
xref: Orphanet:89841 {source="MONDO:equivalentTo"}
xref: SCTID:725419003 {source="MONDO:equivalentTo"}
xref: UMLS:C4511056 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017608 {source="Orphanet:89841"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://identifiers.org/snomedct/725419003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511056
property_value: exactMatch Orphanet:89841

[Term]
id: MONDO:0019522
name: recessive dystrophic epidermolysis bullosa-generalized other
def: "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." [Orphanet:89842]
subset: gard_rare {source="GARD:0012794"}
subset: ordo_disease {source="Orphanet:89842"}
synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [Orphanet:89842]
synonym: "generalized mitis RDEB" EXACT [Orphanet:89842]
synonym: "RDEB generalisata mitis" EXACT [Orphanet:89842]
synonym: "RDEB, generalized intermediate" EXACT [Orphanet:89842]
synonym: "RDEB, non-Hallopeau-Siemens type" EXACT [Orphanet:89842]
synonym: "RDEB-generalized other" EXACT [Orphanet:89842]
synonym: "RDEB-O" EXACT [Orphanet:89842]
synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842]
synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842]
xref: GARD:0012794 {source="MONDO:equivalentTo"}
xref: ICD10:Q81.2 {source="Orphanet:89842", source="ORDO:89842/attributed", source="ORDO:89842/ntbt"}
xref: Orphanet:89842 {source="MONDO:equivalentTo"}
xref: UMLS:CN206337 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016997 {source="Orphanet:89842"} ! hereditary epidermolysis bullosa associated with ocular features
is_a: MONDO:0017608 {source="Orphanet:89842"} ! dystrophic epidermolysis bullosa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206337
property_value: exactMatch Orphanet:89842
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other xsd:anyURI {source="GARD:0012794"}

[Term]
id: MONDO:0019523
name: Walker-Warburg syndrome
def: "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." [Orphanet:899]
subset: ordo_disease {source="Orphanet:899"}
synonym: "cerebroocular dysgenesis" RELATED [GARD:0002599]
synonym: "cerebroocular dysplasia muscular dystrophy syndrome" RELATED [GARD:0002599]
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [DOID:0050560]
synonym: "Chemke syndrome" RELATED [GARD:0002599]
synonym: "hard +/- E syndrome" RELATED [GARD:0002599]
synonym: "hard syndrome" EXACT [DOID:0050560, Orphanet:899]
synonym: "hydrocephalus, agyria and retinal dysplasia" RELATED [GARD:0002599]
synonym: "hydrocephalus-agyria-retinal dysplasia syndrome" EXACT [Orphanet:899]
synonym: "Pagon syndrome" RELATED [GARD:0002599]
synonym: "Walker-Warburg muscular dystrophy" EXACT [NCIT:C99109]
synonym: "Warburg syndrome" RELATED [GARD:0002599]
synonym: "WWS" EXACT [Orphanet:899]
xref: DOID:0050560 {source="MONDO:equivalentTo"}
xref: GARD:0002599 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q04.3 {source="Orphanet:899", source="ORDO:899/attributed", source="ORDO:899/ntbt"}
xref: MESH:D058494 {source="ORDO:899/e", source="Orphanet:899", source="MONDO:equivalentTo"}
xref: NCIT:C99109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:899 {source="MONDO:equivalentTo"}
xref: SCTID:111504002 {source="MONDO:equivalentTo"}
xref: UMLS:CN239483 {source="MONDO:equivalentTo"}
is_a: MONDO:0016156 {source="Orphanet:899"} ! qualitative or quantitative defects of FKRP
is_a: MONDO:0016157 {source="Orphanet:899"} ! qualitative or quantitative defects of fukutin
is_a: MONDO:0016182 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
is_a: MONDO:0016184 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1
is_a: MONDO:0016185 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
is_a: MONDO:0017745 {source="Orphanet:899"} ! disorder of O-mannosylglycan synthesis
is_a: MONDO:0018132 {source="Orphanet:899"} ! congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
is_a: MONDO:0018286 {source="Orphanet:899"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
is_a: MONDO:0018287 {source="Orphanet:899"} ! congenital disorder of glycosylation with epilepsy as a major feature
is_a: MONDO:0018296 {source="Orphanet:899"} ! congenital disorder of glycosylation with developmental anomaly
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020247 {source="Orphanet:899"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265221
property_value: exactMatch DOID:0050560
property_value: exactMatch http://identifiers.org/mesh/D058494
property_value: exactMatch http://identifiers.org/snomedct/111504002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239483
property_value: exactMatch NCIT:C99109
property_value: exactMatch Orphanet:899

[Term]
id: MONDO:0019524
name: infantile Bartter syndrome with sensorineural deafness
def: "Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." [Orphanet:89938]
subset: ordo_clinical_subtype {source="Orphanet:89938"}
synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938]
synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938]
synonym: "Bartter syndrome with sensorineural deafness" RELATED [GARD:0010508]
xref: GARD:0010508 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E26.8 {source="ORDO:89938/attributed", source="ORDO:89938/ntbt", source="Orphanet:89938"}
xref: Orphanet:89938 {source="MONDO:equivalentTo"}
xref: SCTID:700112007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C3838860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206343 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015231 {source="MONDOLEX:0019524", source="Orphanet:89938", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome
is_a: MONDO:0019589 {source="Orphanet:89938"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/snomedct/700112007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3838860
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206343
property_value: exactMatch Orphanet:89938

[Term]
id: MONDO:0019525
name: tetrasomy X
def: "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." [Orphanet:9]
subset: gard_rare {source="GARD:0007754"}
subset: ordo_malformation_syndrome {source="Orphanet:9"}
synonym: "48 XXXX" RELATED [GARD:0007754]
synonym: "48 XXXX syndrome" RELATED [GARD:0007754]
synonym: "48,XXXX syndrome" EXACT [Orphanet:9]
synonym: "quadruple X" EXACT [Orphanet:9]
synonym: "tetra X" EXACT [Orphanet:9]
synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9]
xref: GARD:0007754 {source="MONDO:equivalentTo"}
xref: ICD10:Q97.1 {source="Orphanet:9", source="ORDO:9/attributed", source="ORDO:9/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536502 {source="ORDO:9/e", source="Orphanet:9", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:9 {source="MONDO:equivalentTo"}
xref: SCTID:10567003 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
xref: UMLS:C0265496 {source="ORDO:9/e", source="Orphanet:9", source="MONDO:equivalentTo"}
is_a: MONDO:0017002 {source="Orphanet:9"} ! polysomy of X chromosome
is_a: MONDO:0018413 {source="Orphanet:9"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019852 {source="Orphanet:9"} ! inherited primary ovarian failure
is_a: MONDO:0030502 ! tetrasomy
property_value: exactMatch http://identifiers.org/mesh/C536502
property_value: exactMatch http://identifiers.org/snomedct/10567003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265496
property_value: exactMatch Orphanet:9
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x xsd:anyURI {source="GARD:0007754"}

[Term]
id: MONDO:0019526
name: erythema elevatum diutinum
def: "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." [Orphanet:90000]
subset: gard_rare {source="GARD:0008653"}
subset: ordo_disease {source="Orphanet:90000"}
xref: DOID:0060567 {source="MONDO:equivalentTo"}
xref: GARD:0008653 {source="MONDO:equivalentTo"}
xref: ICD10:L95.1 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo"}
xref: ICD9:695.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10056968 {source="ORDO:90000/e", source="Orphanet:90000"}
xref: MESH:C535509 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:90000 {source="DOID:0060567", source="MONDO:equivalentTo"}
xref: SCTID:58872001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0263398 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo"}
is_a: MONDO:0015491 {source="Orphanet:90000"} ! immune complex mediated vasculitis
property_value: exactMatch DOID:0060567
property_value: exactMatch http://identifiers.org/meddra/10056968
property_value: exactMatch http://identifiers.org/mesh/C535509
property_value: exactMatch http://identifiers.org/snomedct/58872001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263398
property_value: exactMatch Orphanet:90000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum xsd:anyURI {source="GARD:0008653"}

[Term]
id: MONDO:0019527
name: undifferentiated connective tissue syndrome
def: "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." [NCIT:C116776]
subset: ordo_disease {source="Orphanet:90002"}
synonym: "UCTD" EXACT [Orphanet:90002]
synonym: "undifferentiated connective tissue disease" EXACT [NCIT:C116776]
xref: ICD10:M35.8 {source="ORDO:90002/ntbt", source="Orphanet:90002"}
xref: MedDRA:10071575 {source="ORDO:90002/e", source="Orphanet:90002"}
xref: NCIT:C116776 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.45"}
xref: Orphanet:90002 {source="MONDO:equivalentTo"}
xref: SCTID:239918008 {source="MONDO:equivalentTo"}
xref: UMLS:C0409999 {source="ORDO:90002/e", source="MONDO:equivalentTo", source="Orphanet:90002", source="NCIT:C116776"}
is_a: MONDO:0015939 {source="Orphanet:90002"} ! systemic autoimmune disease
property_value: exactMatch http://identifiers.org/meddra/10071575
property_value: exactMatch http://identifiers.org/snomedct/239918008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409999
property_value: exactMatch NCIT:C116776
property_value: exactMatch Orphanet:90002

[Term]
id: MONDO:0019528
name: IgG4-related hepatopathy
def: "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." [Orphanet:90003]
subset: ordo_disease {source="Orphanet:90003"}
synonym: "inflammatory pseudotumor of the liver" EXACT [Orphanet:90003]
xref: ICD10:K75.8 {source="ORDO:90003/ntbt", source="Orphanet:90003"}
xref: Orphanet:90003 {source="MONDO:equivalentTo"}
is_a: MONDO:0017287 {source="Orphanet:90003"} ! IgG4-related disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: exactMatch Orphanet:90003

[Term]
id: MONDO:0019529
name: radiation myelitis
def: "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
subset: ordo_disease {source="Orphanet:90021"}
synonym: "delayed radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
synonym: "radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
xref: ICD10:G97.8 {source="Orphanet:90021", source="ORDO:90021/ntbt"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:90021 {source="MONDO:equivalentTo"}
xref: SCTID:26037005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
is_a: MONDO:0015141 {source="Orphanet:90021"} ! disorder of medulla oblongata
property_value: exactMatch http://identifiers.org/snomedct/26037005
property_value: exactMatch Orphanet:90021

[Term]
id: MONDO:0019530
name: non-syndromic syndactyly
def: "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." [NCIT:C87125]
comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: ordo_group_of_disorders {source="Orphanet:90025"}
synonym: "chromosome 2q35 duplication syndrome" NARROW [DOID:11193, OMIM:185900]
synonym: "isolated syndactyly" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic syndactyly" EXACT [MONDO:DesignPattern]
synonym: "symphalangism" RELATED [DOID:11193]
synonym: "symphalangy" RELATED [DOID:11193]
synonym: "syndactyly" RELATED [MONDO:ambiguous]
synonym: "webbing of digits" RELATED [DOID:11193, MTHICD9_2006:755.1]
xref: ICD10:Q70.0 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: ICD10:Q70.1 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: ICD10:Q70.2 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: ICD10:Q70.3 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: ICD10:Q70.4 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: ICD10:Q70.9 {source="ORDO:90025/specific", source="ORDO:90025/btnt"}
xref: MedDRA:10042778 {source="ORDO:90025/e"}
xref: NCIT:C87125 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.57"}
xref: Orphanet:90025 {source="MONDO:equivalentTo", source="DOID:11193"}
xref: UMLS:C0039075 {source="ORDO:90025/e", source="MONDO:equivalentTo", source="NCIT:C87125"}
is_a: MONDO:0019714 {source="Orphanet:90025"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy
is_a: MONDO:0021002 ! syndactyly (disease)
property_value: exactMatch http://identifiers.org/meddra/10042778
property_value: exactMatch http://identifiers.org/mesh/D013576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039075
property_value: exactMatch NCIT:C87125
property_value: exactMatch Orphanet:90025

[Term]
id: MONDO:0019531
name: hemolytic anemia due to glutathione reductase deficiency
alt_id: MONDO:0032856
def: "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030]
subset: ordo_disease {source="Orphanet:90030"}
synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660]
xref: ICD10:D55.1 {source="Orphanet:90030", source="ORDO:90030/attributed", source="ORDO:90030/ntbt"}
xref: OMIM:618660 {source="MONDO:equivalentTo"}
xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"}
is_a: MONDO:0020105 {source="Orphanet:90030"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
property_value: exactMatch http://identifiers.org/omim/618660
property_value: exactMatch Orphanet:90030

[Term]
id: MONDO:0019532
name: autoimmune hemolytic anemia, warm type
def: "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C)." [Orphanet:90033]
subset: ordo_disease {source="Orphanet:90033"}
synonym: "wAHA" EXACT [Orphanet:90033]
synonym: "wAIHA" EXACT [Orphanet:90033]
synonym: "warm AIHA" EXACT [Orphanet:90033]
synonym: "warm antibody AIHA" RELATED [GARD:0007876]
synonym: "warm antibody autoimmune hemolytic anemia" RELATED [GARD:0007876]
synonym: "warm antibody hemolytic anemia" RELATED [GARD:0007876]
synonym: "warm-reacting-antibody hemolytic anemia" RELATED [GARD:0007876]
xref: GARD:0007876 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D59.1 {source="Orphanet:90033", source="ORDO:90033/ntbt"}
xref: MedDRA:10047822 {source="ORDO:90033/e", source="Orphanet:90033"}
xref: Orphanet:90033 {source="MONDO:equivalentTo"}
xref: SCTID:3978000 {source="MONDO:equivalentTo"}
xref: UMLS:C0272118 {source="ORDO:90033/e", source="Orphanet:90033", source="MONDO:equivalentTo"}
is_a: MONDO:0020108 {source="MONDOLEX:0019532", source="Orphanet:90033"} ! autoimmune hemolytic anemia
property_value: exactMatch http://identifiers.org/meddra/10047822
property_value: exactMatch http://identifiers.org/snomedct/3978000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272118
property_value: exactMatch Orphanet:90033

[Term]
id: MONDO:0019533
name: paroxysmal cold hemoglobinuria
def: "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." [Orphanet:90035]
subset: ordo_disease {source="Orphanet:90035"}
synonym: "Donath-Landsteiner hemolytic anemia" EXACT [Orphanet:90035]
synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035]
synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335]
synonym: "PCH" EXACT [Orphanet:90035]
xref: GARD:0007335 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D59.6 {source="ORDO:90035/ntbt", source="Orphanet:90035"}
xref: Orphanet:90035 {source="MONDO:equivalentTo"}
xref: SCTID:127057004 {source="MONDO:kboom-pr-0.95/0.75/2.19", source="MONDO:equivalentTo"}
is_a: MONDO:0016450 {source="Orphanet:90035"} ! autoimmune hemolytic anemia, cold type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086774
property_value: exactMatch http://identifiers.org/mesh/C538618
property_value: exactMatch http://identifiers.org/snomedct/127057004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272129
property_value: exactMatch Orphanet:90035

[Term]
id: MONDO:0019534
name: mixed-type autoimmune hemolytic anemia
def: "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." [Orphanet:90036]
subset: ordo_disease {source="Orphanet:90036"}
synonym: "mixed AIHA" EXACT [Orphanet:90036]
xref: ICD10:D59.1 {source="ORDO:90036/ntbt", source="Orphanet:90036"}
xref: Orphanet:90036 {source="MONDO:equivalentTo"}
xref: SCTID:718716008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.76"}
xref: UMLS:C4305257 {source="MONDO:equivalentTo"}
is_a: MONDO:0020108 {source="MONDOLEX:0019534", source="Orphanet:90036", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune hemolytic anemia
property_value: exactMatch http://identifiers.org/snomedct/718716008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305257
property_value: exactMatch Orphanet:90036

[Term]
id: MONDO:0019535
name: drug-induced autoimmune hemolytic anemia
def: "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." [Orphanet:90037]
subset: ordo_disease {source="Orphanet:90037"}
synonym: "drug-induced AIHA" EXACT [Orphanet:90037]
xref: ICD10:D59.0 {source="ORDO:90037/ntbt", source="MONDO:equivalentTo", source="Orphanet:90037"}
xref: Orphanet:90037 {source="MONDO:equivalentTo"}
xref: SCTID:309742004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020108 {source="MONDO:Redundant", source="MONDOLEX:0019535", source="Orphanet:90037", source="linkedlifedata"} ! autoimmune hemolytic anemia
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/snomedct/309742004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0391817
property_value: exactMatch Orphanet:90037

[Term]
id: MONDO:0019536
name: typical hemolytic-uremic syndrome
def: "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." [Orphanet:90038]
subset: gard_rare
subset: ordo_disease {source="Orphanet:90038"}
synonym: "D+HUS" EXACT [Orphanet:90038]
synonym: "D-plus hemolytic uremic syndrome (D+HUS)" RELATED [GARD:0006241]
synonym: "hemolytic-uremic syndrome with diarrhea" EXACT [Orphanet:90038]
synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038]
synonym: "Sxt-HUS" EXACT [Orphanet:90038]
synonym: "typical HUS" EXACT [Orphanet:90038]
xref: GARD:0006241 {source="MONDO:equivalentTo"}
xref: ICD10:D59.3 {source="MONDO:subClassOf", source="ORDO:90038/e", source="Orphanet:90038"}
xref: Orphanet:90038 {source="MONDO:equivalentTo"}
xref: UMLS:CN206363 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001549 ! hemolytic-uremic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206363
property_value: exactMatch Orphanet:90038
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus xsd:anyURI {source="GARD:0006241"}

[Term]
id: MONDO:0019537
name: hemoglobin D disease
def: "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." [Orphanet:90039]
subset: ordo_disease {source="Orphanet:90039"}
synonym: "Hb-D disease" EXACT [DOID:5378, MTHICD9_2006:282.7]
synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344]
xref: DOID:5378 {source="MONDO:equivalentTo"}
xref: ICD10:D58.2 {source="ORDO:90039/attributed", source="ORDO:90039/ntbt", source="DOID:5378", source="Orphanet:90039"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10055019 {source="ORDO:90039/e", source="Orphanet:90039"}
xref: NCIT:C35344 {source="DOID:5378", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:90039 {source="MONDO:equivalentTo"}
xref: SCTID:66729008 {source="DOID:5378", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0272080 {source="DOID:5378", source="MONDO:equivalentTo", source="NCIT:C35344", source="ORDO:90039/e", source="Orphanet:90039"}
is_a: MONDO:0002280 {source="Orphanet:90039", source="Orphanet:90039/inferred"} ! anemia (disease)
is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch DOID:5378
property_value: exactMatch http://identifiers.org/meddra/10055019
property_value: exactMatch http://identifiers.org/snomedct/66729008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272080
property_value: exactMatch NCIT:C35344
property_value: exactMatch Orphanet:90039

[Term]
id: MONDO:0019538
name: Gaisbock syndrome
def: "Polycythemia that is caused by stress." [NCIT:P378]
subset: ordo_disease {source="Orphanet:90041"}
synonym: "Gaisbock's syndrome" EXACT [DOID:2838]
synonym: "Gaisboeck's syndrome" RELATED [GARD:0008402]
synonym: "GaisböCK syndrome" RELATED [Orphanet:90041]
synonym: "polycythemia, emotional" EXACT [DOID:2838, MTHICD9_2006:289.0]
synonym: "Pseudopolycythaemia" RELATED [GARD:0008402]
synonym: "Pseudopolycythemia" RELATED [GARD:0008402]
synonym: "stress erythrocytosis" EXACT [Orphanet:90041]
synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orphanet:90041]
xref: DOID:2838 {source="MONDO:equivalentTo"}
xref: GARD:0008402 {source="MONDO:equivalentTo"}
xref: ICD10:D75.1 {source="Orphanet:90041", source="ORDO:90041/ntbt", source="DOID:2838"}
xref: MedDRA:10042217 {source="Orphanet:90041", source="ORDO:90041/e"}
xref: MedDRA:10053885 {source="Orphanet:90041", source="ORDO:90041/e"}
xref: NCIT:C27174 {source="MONDO:equivalentTo", source="DOID:2838"}
xref: Orphanet:90041 {source="MONDO:equivalentTo"}
xref: SCTID:36874002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:2838"}
xref: UMLS:C0541719 {source="Orphanet:90041", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94", source="ORDO:90041/e", source="DOID:2838"}
xref: UMLS:C2242785 {source="Orphanet:90041", source="MONDO:equivalentTo", source="ORDO:90041/e", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN206365 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0016541 {source="MONDO:Redundant", source="Orphanet:90041"} ! acquired secondary polycythemia
is_a: MONDO:0016634 {source="Orphanet:90041"} ! thrombotic disorder due to an acquired coagulation factors defect
property_value: closeMatch http://identifiers.org/snomedct/191371001
property_value: exactMatch DOID:2838
property_value: exactMatch http://identifiers.org/meddra/10042217
property_value: exactMatch http://identifiers.org/meddra/10053885
property_value: exactMatch http://identifiers.org/snomedct/36874002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0541719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242785
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206365
property_value: exactMatch NCIT:C27174
property_value: exactMatch Orphanet:90041

[Term]
id: MONDO:0019539
name: obsolete retinopathy of prematurity
is_obsolete: true
replaced_by: MONDO:0006952

[Term]
id: MONDO:0019540
name: diffuse alveolar hemorrhage (disease)
subset: ordo_clinical_situation {source="Orphanet:90060"}
synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous]
xref: HP:0025420 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:J98.4 {source="ORDO:90060/ntbt", source="Orphanet:90060"}
xref: Orphanet:90060 {source="MONDO:equivalentTo"}
xref: UMLS:CN206369 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005087 {source="Orphanet:90060"} ! respiratory system disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206369
property_value: exactMatch Orphanet:90060

[Term]
id: MONDO:0019541
name: non-infectious posterior uveitis
subset: ordo_group_of_disorders {source="Orphanet:90061"}
synonym: "non-infectious choroiditis" EXACT [Orphanet:90061]
xref: ICD10:H30.0 {source="Orphanet:90061", source="ORDO:90061/ntbt"}
xref: ICD10:H30.1 {source="Orphanet:90061", source="ORDO:90061/ntbt"}
xref: Orphanet:90061 {source="MONDO:equivalentTo"}
is_a: MONDO:0001280 {source="MONDOLEX:0019541", source="Orphanet:90061"} ! choroiditis
property_value: exactMatch Orphanet:90061

[Term]
id: MONDO:0019542
name: acute liver failure
def: "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." [NCIT:C84396]
subset: ordo_clinical_situation {source="Orphanet:90062"}
synonym: "acute hepatic failure" EXACT [Orphanet:90062]
synonym: "fulminant hepatic failure" EXACT [Orphanet:90062]
xref: ICD10:K72.0 {source="Orphanet:90062", source="ORDO:90062/ntbt"}
xref: MedDRA:10000804 {source="Orphanet:90062", source="ORDO:90062/e"}
xref: MESH:D017114 {source="Orphanet:90062", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:90062/e"}
xref: NCIT:C84396 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:90062 {source="MONDO:equivalentTo"}
xref: SCTID:197270009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0162557 {source="Orphanet:90062", source="MONDO:equivalentTo", source="NCIT:C84396", source="ORDO:90062/e"}
is_a: MONDO:0005154 ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10000804
property_value: exactMatch http://identifiers.org/mesh/D017114
property_value: exactMatch http://identifiers.org/snomedct/197270009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162557
property_value: exactMatch NCIT:C84396
property_value: exactMatch Orphanet:90062

[Term]
id: MONDO:0019543
name: acquired aneurysmal subarachnoid hemorrhage
def: "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." [Orphanet:90065]
subset: ordo_clinical_situation {source="Orphanet:90065"}
xref: ICD10:I60.9 {source="Orphanet:90065", source="ORDO:90065/ntbt"}
xref: Orphanet:90065 {source="MONDO:equivalentTo"}
xref: UMLS:CN206370 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005099 ! subarachnoid hemorrhage (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206370
property_value: exactMatch Orphanet:90065

[Term]
id: MONDO:0019544
name: cocaine intoxication
subset: ordo_disease {source="Orphanet:90068"}
xref: ICD10:T40.5 {source="ORDO:90068/e", source="Orphanet:90068"}
xref: ICD9:292.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:90068 {source="MONDO:equivalentTo"}
xref: SCTID:27956007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0029000 {source="MONDO:Entailed", source="Orphanet:90068"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/27956007
property_value: exactMatch Orphanet:90068

[Term]
id: MONDO:0019545
name: systemic monochloroacetate poisoning
def: "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." [Orphanet:90069]
subset: ordo_disease {source="Orphanet:90069"}
xref: ICD10:T60.3 {source="ORDO:90069/ntbt", source="Orphanet:90069"}
xref: Orphanet:90069 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:90069"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch Orphanet:90069

[Term]
id: MONDO:0019546
name: other acquired skin disease
comment: Editor note: consider merging.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:90077"}
xref: Orphanet:90077 {source="MONDO:equivalentTo"}
xref: UMLS:CN206373 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="Orphanet:90077"} ! skin disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206373
property_value: exactMatch Orphanet:90077

[Term]
id: MONDO:0019547
name: Wells syndrome
def: "Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia." [Orphanet:901]
subset: gard_rare {source="GARD:0000329"}
subset: ordo_disease {source="Orphanet:901"}
synonym: "bullous cellulitis with eosinophilia" RELATED [GARD:0000329]
synonym: "eosinophilic cellulitis" EXACT [Orphanet:901]
synonym: "Wells' syndrome" RELATED [GARD:0000329]
xref: GARD:0000329 {source="MONDO:equivalentTo"}
xref: ICD10:L98.3 {source="ORDO:901/e", source="Orphanet:901"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536693 {source="ORDO:901/e", source="MONDO:equivalentTo", source="Orphanet:901", source="MONDO:ontobio"}
xref: Orphanet:901 {source="MONDO:equivalentTo"}
xref: SCTID:238931006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0343101 {source="ORDO:901/e", source="MONDO:equivalentTo", source="Orphanet:901"}
is_a: MONDO:0019546 {source="Orphanet:901"} ! other acquired skin disease
property_value: exactMatch http://identifiers.org/mesh/C536693
property_value: exactMatch http://identifiers.org/snomedct/238931006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343101
property_value: exactMatch Orphanet:901
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/329/wells-syndrome xsd:anyURI {source="GARD:0000329"}

[Term]
id: MONDO:0019548
name: autosomal dominant intermediate Charcot-Marie-Tooth disease
def: "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:90114"}
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth" RELATED [GARD:0012436]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT []
synonym: "CMTDI" EXACT [Orphanet:90114]
synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:0012436 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G60.0 {source="ORDO:90114/ntbt", source="Orphanet:90114", source="ORDO:90114/inclusion"}
xref: Orphanet:90114 {source="MONDO:equivalentTo"}
xref: UMLS:CN206376 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018778 {source="MONDO:Redundant", source="MONDOLEX:0019548", source="Orphanet:90114"} ! intermediate Charcot-Marie-Tooth disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206376
property_value: exactMatch Orphanet:90114

[Term]
id: MONDO:0019549
name: severe early-onset axonal neuropathy due to MFN2 deficiency
def: "10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." [Orphanet:90118]
subset: ordo_disease {source="Orphanet:90118"}
synonym: "AR-CMT2, Ouvrier type" EXACT [Orphanet:90118]
synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [Orphanet:90118]
synonym: "SEOAN due to MFN2 deficiency" EXACT [Orphanet:90118]
xref: ICD10:G60.0 {source="ORDO:90118/attributed", source="ORDO:90118/ntbt", source="Orphanet:90118"}
xref: Orphanet:90118 {source="MONDO:equivalentTo"}
xref: SCTID:766977007 {source="MONDO:equivalentTo"}
xref: UMLS:CN206378 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019601 {source="MONDOLEX:0019549", source="Orphanet:90118"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/snomedct/766977007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206378
property_value: exactMatch Orphanet:90118

[Term]
id: MONDO:0019550
name: hereditary motor and sensory neuropathy with acrodystrophy
def: "Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." [Orphanet:90119]
subset: ordo_disease {source="Orphanet:90119"}
synonym: "AR-CMT2 with acrodystrophy" EXACT [Orphanet:90119]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy" EXACT [Orphanet:90119]
synonym: "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy" EXACT [Orphanet:90119]
synonym: "HMSN with acrodystrophy" EXACT [Orphanet:90119]
xref: ICD10:G60.0 {source="ORDO:90119/attributed", source="ORDO:90119/ntbt", source="Orphanet:90119"}
xref: Orphanet:90119 {source="MONDO:equivalentTo"}
xref: UMLS:CN206379 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019601 {source="MONDOLEX:0019550", source="Orphanet:90119"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206379
property_value: exactMatch Orphanet:90119

[Term]
id: MONDO:0019551
name: hereditary motor and sensory neuropathy type 6
subset: ordo_disease {source="Orphanet:90120"}
synonym: "Charcot-Marie-Tooth disease type 6" EXACT [MONDO:0000856, Orphanet:90120]
synonym: "CMT6" EXACT [Orphanet:90120]
synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068]
synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120]
xref: DOID:0080068 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:90120", source="ORDO:90120/attributed", source="ORDO:90120/ntbt"}
xref: Orphanet:90120 {source="MONDO:equivalentTo"}
xref: UMLS:C0393807 {source="Orphanet:90120", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018775 {source="MONDO:cjm"} ! axonal hereditary motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0015360 {source="Orphanet:90120"} ! autosomal dominant hereditary axonal motor and sensory neuropathy
property_value: exactMatch DOID:0080068
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393807
property_value: exactMatch Orphanet:90120

[Term]
id: MONDO:0019552
name: centrifugal lipodystrophy
def: "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." [Orphanet:90156]
subset: ordo_disease {source="Orphanet:90156"}
synonym: "lipodystrophia centrifugalis abdominalis infantilis" EXACT [Orphanet:90156]
xref: ICD10:E88.1 {source="ORDO:90156/ntbt", source="Orphanet:90156"}
xref: Orphanet:90156 {source="MONDO:equivalentTo"}
is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy
property_value: exactMatch Orphanet:90156

[Term]
id: MONDO:0019553
name: drug-induced localized lipodystrophy
def: "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." [Orphanet:90157]
subset: ordo_disease {source="Orphanet:90157"}
synonym: "lipoatrophy caused by injected drug" EXACT [Orphanet:90157]
xref: ICD10:E88.1 {source="ORDO:90157/ntbt", source="Orphanet:90157"}
xref: Orphanet:90157 {source="MONDO:equivalentTo"}
xref: SCTID:403661001 {source="MONDO:equivalentTo"}
xref: UMLS:CN227649 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019194 {source="MONDO:Redundant", source="MONDOLEX:0019553", source="Orphanet:90157"} ! localized lipodystrophy
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/snomedct/403661001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227649
property_value: exactMatch Orphanet:90157

[Term]
id: MONDO:0019554
name: idiopathic localized lipodystrophy
def: "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." [Orphanet:90158]
subset: ordo_disease {source="Orphanet:90158"}
xref: ICD10:E88.1 {source="ORDO:90158/ntbt", source="Orphanet:90158"}
xref: Orphanet:90158 {source="MONDO:equivalentTo"}
xref: UMLS:CN227650 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019194 {source="MONDOLEX:0019554", source="Orphanet:90158"} ! localized lipodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227650
property_value: exactMatch Orphanet:90158

[Term]
id: MONDO:0019555
name: panniculitis and localized lipodystrophy
subset: ordo_disease {source="Orphanet:90159"}
synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159]
xref: ICD10:E88.1 {source="ORDO:90159/ntbt", source="Orphanet:90159"}
xref: Orphanet:90159 {source="MONDO:equivalentTo"}
xref: UMLS:CN227651 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006591 ! panniculitis
is_a: MONDO:0019194 {source="MONDO:Redundant", source="MONDOLEX:0019555", source="Orphanet:90159"} ! localized lipodystrophy
intersection_of: MONDO:0006591 ! panniculitis
intersection_of: MONDO:0019194 ! localized lipodystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227651
property_value: exactMatch Orphanet:90159

[Term]
id: MONDO:0019556
name: pressure-induced localized lipoatrophy
def: "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present." [Orphanet:90160]
subset: ordo_disease {source="Orphanet:90160"}
synonym: "lipoatrophia semicircularis" EXACT [Orphanet:90160]
synonym: "semicircular lipoatrophy" EXACT [Orphanet:90160]
xref: ICD10:E88.1 {source="Orphanet:90160", source="ORDO:90160/ntbt"}
xref: Orphanet:90160 {source="MONDO:equivalentTo"}
xref: SCTID:238898001 {source="MONDO:equivalentTo"}
xref: UMLS:CN227652 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019194 {source="Orphanet:90160"} ! localized lipodystrophy
property_value: exactMatch http://identifiers.org/snomedct/238898001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227652
property_value: exactMatch Orphanet:90160

[Term]
id: MONDO:0019557
name: chilblain lupus
def: "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." [Orphanet:90280]
comment: Editor note: ORDO classifies as genetic and has a separate subclass for familiar form
subset: ordo_disease {source="Orphanet:90280"}
synonym: "CHLE" EXACT [PMID:11176709]
synonym: "Hutchinson lupus" EXACT [PMID:11176709]
xref: DOID:0060386 {source="MONDO:equivalentTo"}
xref: ICD10:L93.2 {source="ORDO:90280/attributed", source="ORDO:90280/ntbt", source="Orphanet:90280"}
xref: MedDRA:10025141 {source="ORDO:90280/e", source="Orphanet:90280"}
xref: Orphanet:90280 {source="DOID:0060386", source="MONDO:equivalentTo"}
xref: UMLS:C0024145 {source="DOID:0060386", source="MONDO:equivalentTo", source="ORDO:90280/e", source="Orphanet:90280"}
xref: UMLS:CN239336 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0015574 {source="Orphanet:90280"} ! chronic cutaneous lupus erythematosus
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019293 {source="Orphanet:90280"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0015948 {source="Orphanet:90280"} ! obsolete rare genetic skin vascular disorder
property_value: closeMatch http://identifiers.org/snomedct/11361009
property_value: closeMatch http://identifiers.org/snomedct/238928005
property_value: closeMatch http://identifiers.org/snomedct/72470008
property_value: exactMatch DOID:0060386
property_value: exactMatch http://identifiers.org/meddra/10025141
property_value: exactMatch http://identifiers.org/mesh/C535924
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239336
property_value: exactMatch Orphanet:90280

[Term]
id: MONDO:0019558
name: discoid lupus erythematosus
def: "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." [NCIT:C26820]
subset: ordo_disease {source="Orphanet:90281"}
synonym: "DLE" EXACT [NCIT:C26820]
xref: COHD:4066824 {source="MONDO:equivalentTo"}
xref: ICD10:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="ORDO:90281/e"}
xref: MedDRA:10013072 {source="Orphanet:90281", source="ORDO:90281/e"}
xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="ORDO:90281/e"}
xref: NCIT:C26820 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:90281 {source="MONDO:equivalentTo"}
xref: SCTID:200938002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0024138 {source="Orphanet:90281", source="MONDO:equivalentTo", source="NCIT:C26820", source="ORDO:90281/e"}
is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythematosus
property_value: exactMatch http://identifiers.org/meddra/10013072
property_value: exactMatch http://identifiers.org/mesh/D008179
property_value: exactMatch http://identifiers.org/snomedct/200938002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024138
property_value: exactMatch NCIT:C26820
property_value: exactMatch Orphanet:90281

[Term]
id: MONDO:0019559
name: hypertrophic or verrucous lupus erythematosus
subset: ordo_disease {source="Orphanet:90282"}
xref: ICD10:L93.2 {source="Orphanet:90282", source="ORDO:90282/ntbt"}
xref: Orphanet:90282 {source="MONDO:equivalentTo"}
xref: UMLS:CN227653 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015574 {source="Orphanet:90282"} ! chronic cutaneous lupus erythematosus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227653
property_value: exactMatch Orphanet:90282

[Term]
id: MONDO:0019560
name: lupus erythematosus tumidus
def: "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus , subacute cutaneous lupus , and chronic cutaneous lupus . Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs , local corticosteroids , topical tacrolimus and light therapy ." [https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus]
subset: gard_rare {source="GARD:0013003"}
subset: ordo_disease {source="Orphanet:90283"}
synonym: "intermittent cutaneous lupus" EXACT [Orphanet:90283]
synonym: "let" EXACT [NCIT:C117112]
synonym: "tumid lupus erythematosus" RELATED [GARD:0013003]
xref: GARD:0013003 {source="MONDO:equivalentTo"}
xref: ICD10:L93.2 {source="Orphanet:90283", source="ORDO:90283/ntbt"}
xref: NCIT:C117112 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:90283 {source="MONDO:equivalentTo"}
xref: SCTID:200941006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0406636 {source="NCIT:C117112", source="Orphanet:90283", source="MONDO:equivalentTo", source="ORDO:90283/e"}
is_a: MONDO:0015574 {source="Orphanet:90283"} ! chronic cutaneous lupus erythematosus
property_value: exactMatch http://identifiers.org/snomedct/200941006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406636
property_value: exactMatch NCIT:C117112
property_value: exactMatch Orphanet:90283
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus xsd:anyURI {source="GARD:0013003"}

[Term]
id: MONDO:0019561
name: lupus erythematosus panniculitis
def: "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." [MESH:D015435]
subset: ordo_disease {source="Orphanet:90285"}
synonym: "lupus erythematosus profundus" EXACT [Orphanet:90285]
synonym: "lupus panniculitis" EXACT [NCIT:C82884]
synonym: "lupus profundus" EXACT [NCIT:C82884]
xref: ICD10:L93.2 {source="Orphanet:90285", source="ORDO:90285/ntbt"}
xref: MESH:D015435 {source="ORDO:90285/e", source="Orphanet:90285", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C82884 {source="MONDO:equivalentTo"}
xref: Orphanet:90285 {source="MONDO:equivalentTo"}
xref: SCTID:15084002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0030327 {source="ORDO:90285/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:90285", source="MONDO:equivalentTo"}
is_a: MONDO:0006591 {source="MESH:D015435"} ! panniculitis
is_a: MONDO:0015574 {source="Orphanet:90285"} ! chronic cutaneous lupus erythematosus
property_value: exactMatch http://identifiers.org/mesh/D015435
property_value: exactMatch http://identifiers.org/snomedct/15084002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030327
property_value: exactMatch NCIT:C82884
property_value: exactMatch Orphanet:90285

[Term]
id: MONDO:0019562
name: localized scleroderma
def: "Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips." [Orphanet:90289]
subset: ordo_disease {source="Orphanet:90289"}
synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM_2006:701.0]
synonym: "localised morphoea" EXACT [DOID:8472]
synonym: "localized fibrosing scleroderma" EXACT [Orphanet:90289]
synonym: "localized morphea" EXACT [DOID:8472]
synonym: "localized scleroderma" EXACT [MONDO:0004581]
synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [DOID:8472]
synonym: "morphea" EXACT [DOID:8472]
synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472, MTHICD9_2006:701.0]
synonym: "Scleroderma, localized" RELATED [GARD:0007058]
xref: COHD:441928 {source="MONDO:equivalentTo"}
xref: DOID:8472 {source="MONDO:equivalentTo"}
xref: GARD:0007058 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:L94.0 {source="ORDO:90289/e", source="Orphanet:90289", source="DOID:8472"}
xref: ICD9:701.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8472"}
xref: MedDRA:10039712 {source="ORDO:90289/e", source="Orphanet:90289"}
xref: MESH:D012594 {source="ORDO:90289/e", source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472"}
xref: NCIT:C72069 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:8472"}
xref: Orphanet:90289 {source="MONDO:equivalentTo"}
xref: SCTID:201048007 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo", source="DOID:8472"}
xref: UMLS:C0036420 {source="ORDO:90289/e", source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="NCIT:C72069"}
is_a: MONDO:0019340 {source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289"} ! scleroderma (disease)
property_value: closeMatch http://identifiers.org/snomedct/201046006
property_value: closeMatch http://identifiers.org/snomedct/201047002
property_value: closeMatch http://identifiers.org/snomedct/201052007
property_value: closeMatch http://identifiers.org/snomedct/90424004
property_value: exactMatch DOID:8472
property_value: exactMatch http://identifiers.org/meddra/10039712
property_value: exactMatch http://identifiers.org/mesh/D012594
property_value: exactMatch http://identifiers.org/snomedct/201048007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036420
property_value: exactMatch NCIT:C72069
property_value: exactMatch Orphanet:90289

[Term]
id: MONDO:0019563
name: CREST syndrome
def: "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc; see this term) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." [Orphanet:90290]
subset: ordo_clinical_subtype {source="Orphanet:90290"}
synonym: "calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia" RELATED [GARD:0012430]
synonym: "calcinosis Raynaud phenomenon sclerodactyly telangiectasia" RELATED [MESH:D017675]
synonym: "calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome" RELATED [MESH:D017675]
synonym: "calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome" EXACT [Orphanet:90290]
synonym: "calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia" RELATED [MESH:D017675]
synonym: "CRST syndrome" NARROW [MESH:D017675]
synonym: "CRST syndromes" NARROW [MESH:D017675]
synonym: "lcSSc" BROAD [NCIT:C70646]
synonym: "limited cutaneous Systemic Scleroderma" EXACT [NCIT:C70646]
synonym: "limited cutaneous Systemic sclerosis" EXACT [NCIT:C70646]
synonym: "phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud" RELATED [MESH:D017675]
synonym: "syndrome, CREST" RELATED [MESH:D017675]
xref: COHD:4135937 {source="MONDO:equivalentTo"}
xref: DOID:0060218 {source="MONDO:equivalentTo"}
xref: GARD:0012430 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M34.1 {source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"}
xref: MedDRA:10011380 {source="ORDO:90290/e", source="Orphanet:90290"}
xref: MESH:D017675 {source="MONDO:equivalentTo", source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"}
xref: NCIT:C70646 {source="MONDO:equivalentTo", source="DOID:0060218"}
xref: Orphanet:90290 {source="MONDO:equivalentTo"}
xref: SCTID:31848007 {source="MONDO:equivalentTo", source="DOID:0060218", source="MONDO:kboom-pr-0.92/0.68/1.61"}
xref: UMLS:C0206138 {source="NCIT:C70646", source="MONDO:equivalentTo", source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"}
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0002254 {source="DOID:0060218", source="MONDOLEX:0019563", source="NCIT:C70646"} ! syndromic disease
is_a: MONDO:0006832 {source="MESH:D017675", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! limited scleroderma
is_a: MONDO:0016177 {source="Orphanet:90290"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy
is_a: MONDO:0016358 {source="Orphanet-textdef", source="linkedlifedata"} ! limited cutaneous systemic sclerosis
property_value: closeMatch http://identifiers.org/snomedct/156453002
property_value: closeMatch http://identifiers.org/snomedct/201442004
property_value: closeMatch http://identifiers.org/snomedct/62382002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1527226
property_value: exactMatch DOID:0060218
property_value: exactMatch http://identifiers.org/meddra/10011380
property_value: exactMatch http://identifiers.org/mesh/D017675
property_value: exactMatch http://identifiers.org/snomedct/31848007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206138
property_value: exactMatch NCIT:C70646
property_value: exactMatch Orphanet:90290

[Term]
id: MONDO:0019564
name: obsolete systemic sclerosis
is_obsolete: true
replaced_by: MONDO:0005100

[Term]
id: MONDO:0019565
name: hereditary von Willebrand disease
def: "von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms)." [Orphanet:903]
subset: ordo_disease {source="Orphanet:903"}
synonym: "congenital von willebrand disease" RELATED []
synonym: "congenital von willebrand's disease" EXACT []
synonym: "hereditary von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/hereditary]
synonym: "vascular hemophilia" BROAD [CSP2005:0438-9190, DOID:12531]
synonym: "vascular pseudohemophilia" EXACT [DOID:12531, MTHICD9_2006:287.8]
synonym: "von Willebrand disease" BROAD [DOID:12531, Orphanet:903]
synonym: "von Willebrand disorder" BROAD [DOID:12531]
synonym: "von Willebrand's disease" RELATED [DOID:12531]
synonym: "von Willebrand's-Jurgens' disease" BROAD [DOID:12531, MTHICD9_2006:286.4]
synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531]
synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531]
xref: DOID:12531 {source="MONDO:equivalentTo"}
xref: GARD:0007867 {source="MONDO:equivalentTo"}
xref: ICD10:D68.0 {source="MONDO:subClassOf", source="ORDO:903/specific", source="ORDO:903/e", source="Orphanet:903", source="DOID:12531"}
xref: ICD10:D69.8 {source="DOID:12531"}
xref: ICD9:286.4 {source="MONDO:subClassOf", source="DOID:12531"}
xref: MedDRA:10047715 {source="ORDO:903/e", source="Orphanet:903"}
xref: MESH:C531844 {source="MONDO:equivalentTo"}
xref: Orphanet:903 {source="MONDO:equivalentTo"}
xref: SCTID:234446004 {source="MONDO:equivalentTo"}
xref: UMLS:C0042974 {source="ORDO:903/e", source="MONDO:equivalentTo", source="Orphanet:903", source="NCIT:C68677", source="DOID:12531"}
is_a: MONDO:0019039 {source="Orphanet:903"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect
is_a: MONDO:0021181 ! inherited blood coagulation disorder
is_a: MONDO:0024574 {source="MESH:C531844", source="MONDO:Redundant", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired)
intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://identifiers.org/snomedct/11093006
property_value: closeMatch http://identifiers.org/snomedct/154819009
property_value: exactMatch DOID:12531
property_value: exactMatch http://identifiers.org/meddra/10047715
property_value: exactMatch http://identifiers.org/mesh/C531844
property_value: exactMatch http://identifiers.org/snomedct/234446004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042974
property_value: exactMatch Orphanet:903

[Term]
id: MONDO:0019566
name: obsolete Klippel-Trenaunay syndrome
is_obsolete: true
replaced_by: MONDO:0007864

[Term]
id: MONDO:0019567
name: Ehlers-Danlos syndrome type 1
def: "Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene." [NCIT:C125696]
subset: ordo_etiological_subtype {source="Orphanet:90309"}
synonym: "EDS I" EXACT [Orphanet:90309]
synonym: "Ehlers-Danlos syndrome, type 1" EXACT [DOID:14720]
synonym: "Ehlers-Danlos syndrome, type I" EXACT [NCIT:C125696]
synonym: "Ehlers-Danlos syndrome, type I" RELATED [NCIT:C125696]
synonym: "type I Ehlers-Danlos syndrome" RELATED [DOID:14720]
xref: DOID:14720 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:90309", source="ORDO:90309/attributed", source="ORDO:90309/ntbt"}
xref: MESH:C536194 {source="Orphanet:90309", source="MONDO:equivalentTo", source="DOID:14720", source="ORDO:90309/e"}
xref: NCIT:C125696 {source="MONDO:equivalentTo"}
xref: Orphanet:90309 {source="MONDO:equivalentTo"}
xref: SCTID:83470009 {source="MONDO:equivalentTo", source="DOID:14720"}
xref: UMLS:C0268335 {source="Orphanet:90309", source="MONDO:equivalentTo", source="NCIT:C125696", source="DOID:14720", source="ORDO:90309/e"}
is_a: MONDO:0007522 {source="MONDOLEX:0019567", source="Orphanet:90309", source="linkedlifedata"} ! Ehlers-Danlos syndrome, classic type
property_value: exactMatch DOID:14720
property_value: exactMatch http://identifiers.org/mesh/C536194
property_value: exactMatch http://identifiers.org/snomedct/83470009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268335
property_value: exactMatch NCIT:C125696
property_value: exactMatch Orphanet:90309

[Term]
id: MONDO:0019568
name: Ehlers-Danlos syndrome type 2
def: "Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene." [NCIT:C125697]
subset: ordo_etiological_subtype {source="Orphanet:90318"}
synonym: "EDS II" EXACT [Orphanet:90318]
synonym: "EDS II, formerly" RELATED [OMIM:130010]
synonym: "EDSCL2" EXACT [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mild Classic type" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mild Classic type, formerly" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, classic type, 2; EDSCL2" EXACT [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [OMIM:130010]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="ORDO:90318/attributed", source="ORDO:90318/ntbt", source="Orphanet:90318"}
xref: MESH:C536195 {source="MONDO:equivalentTo", source="ORDO:90318/e", source="Orphanet:90318"}
xref: NCIT:C125697 {source="MONDO:equivalentTo"}
xref: OMIM:130010 {source="MONDO:equivalentTo"}
xref: Orphanet:90318 {source="MONDO:equivalentTo", source="OMIM:130010"}
xref: UMLS:C0268336 {source="MONDO:equivalentTo", source="NCIT:C125697", source="ORDO:90318/e", source="Orphanet:90318"}
is_a: MONDO:0007522 {source="MONDOLEX:0019568", source="Orphanet:90318"} ! Ehlers-Danlos syndrome, classic type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4538407
property_value: exactMatch http://identifiers.org/mesh/C536195
property_value: exactMatch http://identifiers.org/omim/130010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268336
property_value: exactMatch NCIT:C125697
property_value: exactMatch Orphanet:90318

[Term]
id: MONDO:0019569
name: Cockayne syndrome type 1
def: "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." [] {source="NCIT:C135725"}
subset: ordo_clinical_subtype {source="Orphanet:90321"}
synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400]
synonym: "Cockayne syndrome A; CSA" RELATED [OMIM:216400]
synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern]
synonym: "Cockayne syndrome classic form" RELATED [GARD:0001415]
synonym: "Cockayne syndrome classical" RELATED [GARD:0001415]
synonym: "Cockayne syndrome type A" RELATED [GARD:0001415]
synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, OMIM:216400]
synonym: "Cockayne syndrome type I" EXACT [GARD:0001415, Orphanet:90321]
synonym: "CSA" RELATED [MONDO:Lexical, OMIM:216400]
synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0001415 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="ORDO:90321/attributed", source="ORDO:90321/ntbt", source="Orphanet:90321"}
xref: NCIT:C135725 {source="MONDO:kboom-pr-0.89/0.75/0.22", source="MONDO:equivalentTo"}
xref: OMIM:216400 {source="MONDO:equivalentTo", source="ORDO:90321/btnt", source="Orphanet:90321", source="MONDO:superClassOf", source="GARD:0001415"}
xref: Orphanet:90321 {source="MONDO:subClassOf", source="OMIM:216400", source="MONDO:equivalentTo", source="GARD:0001415"}
xref: UMLS:C0751039 {source="NCBI:mim2gene_medline", source="OMIM:216400", source="ORDO:90321/e", source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="NCIT:C135725"}
is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="ORDO:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome
property_value: exactMatch http://identifiers.org/omim/216400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751039
property_value: exactMatch NCIT:C135725
property_value: exactMatch Orphanet:90321
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i xsd:anyURI {source="GARD:0001415"}

[Term]
id: MONDO:0019570
name: Cockayne syndrome type 2
def: "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." [] {source="NCIT:C135726"}
subset: ordo_clinical_subtype {source="Orphanet:90322"}
synonym: "Cockayne syndrome B" EXACT [MONDO:0007582, MONDO:Lexical, OMIM:133540]
synonym: "Cockayne syndrome B; CSB" RELATED [OMIM:133540]
synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420]
synonym: "Cockayne syndrome type B" EXACT [MONDORULE:1, OMIM:133540]
synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322]
synonym: "CSB" RELATED [MONDO:Lexical, OMIM:133540]
xref: GARD:0001420 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:Q87.8 {source="ORDO:90322/attributed", source="ORDO:90322/ntbt", source="Orphanet:90322"}
xref: NCIT:C135726 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.11"}
xref: OMIM:133540 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:90322/btnt", source="Orphanet:90322"}
xref: Orphanet:90322 {source="MONDO:equivalentTo", source="OMIM:133540"}
xref: UMLS:C0751038 {source="NCIT:C135726", source="ORDO:90322/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133540", source="Orphanet:90322"}
is_a: MONDO:0016006 {source="NCIT:C135726", source="ORDO:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome
property_value: exactMatch http://identifiers.org/omim/133540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751038
property_value: exactMatch NCIT:C135726
property_value: exactMatch Orphanet:90322

[Term]
id: MONDO:0019571
name: autosomal dominant cutis laxa
def: "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." [Orphanet:90348]
subset: gard_rare {source="GARD:0001639"}
subset: ordo_disease {source="Orphanet:90348"}
synonym: "ADCL" EXACT [DOID:0070142, Orphanet:90348]
synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0070142 {source="MONDO:equivalentTo"}
xref: GARD:0001639 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070142", source="ORDO:90348/attributed", source="ORDO:90348/ntbt", source="Orphanet:90348"}
xref: MESH:C562627 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"}
xref: SCTID:111388003 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0268350 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="ORDO:90348/e", source="Orphanet:90348"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0016175 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Redundant", source="Orphanet:90348", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutis laxa
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch DOID:0070142
property_value: exactMatch http://identifiers.org/mesh/C562627
property_value: exactMatch http://identifiers.org/snomedct/111388003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268350
property_value: exactMatch Orphanet:90348
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant xsd:anyURI {source="GARD:0001639"}

[Term]
id: MONDO:0019572
name: autosomal recessive cutis laxa type 1
def: "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." [Orphanet:90349]
subset: ordo_disease {source="Orphanet:90349"}
synonym: "ARCL1" EXACT [Orphanet:90349]
synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144]
synonym: "autosomal recessive cutis laxa type I" RELATED [DOID:0070144]
synonym: "autosomal recessive cutis laxa with severe systemic involvement" EXACT [Orphanet:90349]
synonym: "autosomal recessive cutis laxa, pulmonary emphysema type" EXACT [Orphanet:90349]
synonym: "cutis laxa, autosomal recessive type 1" RELATED [GARD:0008480]
synonym: "cutis laxa, type 1" RELATED [GARD:0008480]
xref: DOID:0070144 {source="MONDO:equivalentTo"}
xref: GARD:0008480 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:8480 {source="DOID:0070144"}
xref: ICD10:Q82.8 {source="ORDO:90349/attributed", source="ORDO:90349/ntbt", source="Orphanet:90349"}
xref: MESH:C536225 {source="MONDO:equivalentTo"}
xref: Orphanet:90349 {source="MONDO:equivalentTo"}
xref: PMID:19401719 {source="DOID:0070144"}
xref: SCTID:254222002 {source="DOID:0070144", source="MONDO:equivalentTo"}
xref: UMLS:CN206407 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:90349", source="Orphanet:90349/inferred"} ! vascular disease
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016175 {source="DOID:0070144", source="Orphanet:90349", source="linkedlifedata/inferred"} ! cutis laxa
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268351
property_value: closeMatch Orphanet:90439
property_value: exactMatch DOID:0070144
property_value: exactMatch http://identifiers.org/mesh/C536225
property_value: exactMatch http://identifiers.org/snomedct/254222002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432336
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206407
property_value: exactMatch Orphanet:90349

[Term]
id: MONDO:0019573
name: autosomal recessive cutis laxa type 2
def: "Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term)." [Orphanet:90350]
subset: ordo_group_of_disorders {source="Orphanet:90350"}
synonym: "ARCL2" EXACT [Orphanet:90350]
synonym: "cutis laxa with joint laxity and developmental delay" EXACT [Orphanet:90350]
xref: ICD10:Q82.8 {source="Orphanet:90350", source="ORDO:90350/attributed", source="ORDO:90350/ntbt"}
xref: Orphanet:90350 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0016175 {source="Orphanet:90350"} ! cutis laxa
is_a: MONDO:0017355 {source="Orphanet:90350"} ! inborn disorder of proline metabolism
is_a: MONDO:0019704 {source="Orphanet:90350"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432337
property_value: exactMatch Orphanet:90350

[Term]
id: MONDO:0019574
name: secondary intestinal lymphangiectasia
def: "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." [Orphanet:90363]
subset: ordo_disease {source="Orphanet:90363"}
xref: ICD10:I89.0 {source="Orphanet:90363", source="ORDO:90363/ntbt"}
xref: Orphanet:90363 {source="MONDO:equivalentTo"}
xref: SCTID:717255008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4273969 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018178 {source="Orphanet:90363", source="linkedlifedata"} ! intestinal lymphangiectasia (disease)
property_value: exactMatch http://identifiers.org/snomedct/717255008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273969
property_value: exactMatch Orphanet:90363

[Term]
id: MONDO:0019575
name: hypotrichosis simplex of the scalp
def: "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." [Orphanet:90368]
subset: ordo_disease {source="Orphanet:90368"}
synonym: "hereditary hypotrichosis simplex of the scalp" EXACT [Orphanet:90368]
xref: ICD10:L65.8 {source="ORDO:90368/attributed", source="ORDO:90368/ntbt", source="Orphanet:90368"}
xref: Orphanet:90368 {source="MONDO:equivalentTo"}
xref: SCTID:717256009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
is_a: MONDO:0004907 {source="Orphanet:90368"} ! alopecia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840299
property_value: exactMatch http://identifiers.org/snomedct/717256009
property_value: exactMatch Orphanet:90368

[Term]
id: MONDO:0019576
name: telangiectasia macularis eruptiva perstans
subset: ordo_clinical_subtype {source="Orphanet:90389"}
xref: ICD10:Q82.2 {source="MONDO:subClassOf", source="ORDO:90389/ntbt", source="Orphanet:90389"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10043192 {source="ORDO:90389/e", source="Orphanet:90389"}
xref: Orphanet:90389 {source="MONDO:equivalentTo"}
xref: SCTID:8214000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0263402 {source="MONDO:equivalentTo", source="ORDO:90389/e", source="Orphanet:90389"}
is_a: MONDO:0019316 {source="Orphanet:90389"} ! maculopapular cutaneous mastocytosis
property_value: exactMatch http://identifiers.org/meddra/10043192
property_value: exactMatch http://identifiers.org/snomedct/8214000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263402
property_value: exactMatch Orphanet:90389

[Term]
id: MONDO:0019577
name: anonychia-onychodystrophy syndrome
subset: ordo_clinical_subtype {source="Orphanet:90390"}
xref: ICD10:Q84.3 {source="ORDO:90390/attributed", source="ORDO:90390/ntbt", source="Orphanet:90390"}
xref: MESH:C536378 {source="MONDO:equivalentTo", source="ORDO:90390/e", source="Orphanet:90390"}
xref: Orphanet:90390 {source="MONDO:equivalentTo"}
xref: UMLS:C1862840 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:90390/e", source="Orphanet:90390"}
is_a: MONDO:0019211 {source="Orphanet:90390"} ! isolated congenital anonychia
property_value: exactMatch http://identifiers.org/mesh/C536378
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862840
property_value: exactMatch Orphanet:90390

[Term]
id: MONDO:0019578
name: nodular lichen myxedematosus
def: "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." [Orphanet:90393]
subset: ordo_disease {source="Orphanet:90393"}
synonym: "atypical tuberous myxedema of Jadassohn-Dosseker" EXACT [Orphanet:90393]
xref: ICD10:L98.5 {source="Orphanet:90393", source="ORDO:90393/ntbt"}
xref: Orphanet:90393 {source="MONDO:equivalentTo"}
xref: SCTID:717257000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273968 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019446 {source="Orphanet:90393", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus
property_value: exactMatch http://identifiers.org/snomedct/717257000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273968
property_value: exactMatch Orphanet:90393

[Term]
id: MONDO:0019579
name: discrete papular lichen myxedematosus
def: "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." [Orphanet:90394]
subset: ordo_disease {source="Orphanet:90394"}
xref: ICD10:L98.5 {source="Orphanet:90394", source="ORDO:90394/ntbt"}
xref: Orphanet:90394 {source="MONDO:equivalentTo"}
xref: SCTID:717258005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273967 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019446 {source="Orphanet:90394", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus
property_value: exactMatch http://identifiers.org/snomedct/717258005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273967
property_value: exactMatch Orphanet:90394

[Term]
id: MONDO:0019580
name: papular mucinosis of infancy
def: "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." [Orphanet:90395]
subset: ordo_disease {source="Orphanet:90395"}
synonym: "cutaneous mucinosis of infancy" EXACT [Orphanet:90395]
xref: ICD10:L98.5 {source="Orphanet:90395", source="ORDO:90395/ntbt"}
xref: Orphanet:90395 {source="MONDO:equivalentTo"}
xref: SCTID:717259002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273966 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019446 {source="MONDOLEX:0019580", source="Orphanet:90395", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus
property_value: exactMatch http://identifiers.org/snomedct/717259002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273966
property_value: exactMatch Orphanet:90395

[Term]
id: MONDO:0019581
name: acral persistent papular mucinosis
def: "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus (see this term) characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." [Orphanet:90396]
subset: ordo_disease {source="Orphanet:90396"}
xref: ICD10:L98.5 {source="Orphanet:90396", source="ORDO:90396/ntbt"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:90396 {source="MONDO:equivalentTo"}
xref: SCTID:238949006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0406660 {source="ORDO:90396/e", source="Orphanet:90396", source="MONDO:equivalentTo"}
is_a: MONDO:0019446 {source="MONDOLEX:0019581", source="Orphanet:90396", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus
property_value: exactMatch http://identifiers.org/snomedct/238949006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406660
property_value: exactMatch Orphanet:90396

[Term]
id: MONDO:0019582
name: self-healing papular mucinosis
def: "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." [Orphanet:90397]
subset: ordo_disease {source="Orphanet:90397"}
xref: ICD10:L98.5 {source="Orphanet:90397", source="ORDO:90397/ntbt"}
xref: Orphanet:90397 {source="MONDO:equivalentTo"}
is_a: MONDO:0019446 {source="MONDOLEX:0019582", source="Orphanet:90397", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus
property_value: exactMatch Orphanet:90397

[Term]
id: MONDO:0019583
name: localized lichen myxedematosus with mixed features of different subtypes
def: "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms)." [Orphanet:90398]
subset: ordo_clinical_subtype {source="Orphanet:90398"}
xref: ICD10:L98.5 {source="ORDO:90398/ntbt", source="Orphanet:90398"}
xref: Orphanet:90398 {source="MONDO:equivalentTo"}
is_a: MONDO:0019447 {source="Orphanet:90398"} ! atypical lichen myxedematosus
property_value: exactMatch Orphanet:90398

[Term]
id: MONDO:0019584
name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
def: "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." [Orphanet:90399]
subset: ordo_clinical_subtype {source="Orphanet:90399"}
xref: ICD10:L98.5 {source="ORDO:90399/ntbt", source="Orphanet:90399"}
xref: Orphanet:90399 {source="MONDO:equivalentTo"}
is_a: MONDO:0019447 {source="Orphanet:90399"} ! atypical lichen myxedematosus
property_value: exactMatch Orphanet:90399

[Term]
id: MONDO:0019585
name: scleromyxedema without monoclonal gammopathy
def: "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." [Orphanet:90400]
subset: ordo_clinical_subtype {source="Orphanet:90400"}
xref: ICD10:L98.5 {source="ORDO:90400/ntbt", source="Orphanet:90400"}
xref: Orphanet:90400 {source="MONDO:equivalentTo"}
is_a: MONDO:0019447 {source="Orphanet:90400"} ! atypical lichen myxedematosus
property_value: exactMatch Orphanet:90400

[Term]
id: MONDO:0019586
name: X-linked nonsyndromic deafness
def: "X-linked form of nonsyndromic deafness." [MONDO:patterns/x_linked]
comment: ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408
subset: clingen
subset: gard_rare
synonym: "nonsyndromic deafness, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "nonsyndromic genetic deafness, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked deafness" EXACT [DOID:0050566]
synonym: "X-linked isolated neurosensory deafness type DFN" EXACT [Orphanet:90625]
synonym: "X-linked isolated neurosensory hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked isolated sensorineural deafness type DFN" EXACT [Orphanet:90625]
synonym: "X-linked isolated sensorineural hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked non-syndromic neurosensory deafness type DFN" EXACT [Orphanet:90625]
synonym: "X-linked non-syndromic neurosensory hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked non-syndromic sensorineural deafness type DFN" RELATED [Orphanet:90625]
synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked nonsyndromic genetic deafness" EXACT [MONDO:design_pattern]
xref: DOID:0050566 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="ORDO:90625/attributed", source="ORDO:90625/ntbt", source="DOID:0050566", source="Orphanet:90625"}
xref: OMIMPS:304500 {source="DOID:0050566"}
xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"}
xref: UMLS:CN206422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016297 {source="Orphanet:90625"} ! prelingual non-syndromic genetic deafness
is_a: MONDO:0016298 {source="Orphanet:90625"} ! postlingual non-syndromic genetic deafness
is_a: MONDO:0020768 {source="MONDO:cjm"} ! X-linked deafness
property_value: exactMatch DOID:0050566
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206422
property_value: exactMatch Orphanet:90625

[Term]
id: MONDO:0019587
name: autosomal dominant nonsyndromic deafness
def: "Autosomal dominant form of nonsyndromic deafness." [MONDO:patterns/autosomal_dominant]
subset: clingen
subset: ordo_etiological_subtype {source="Orphanet:90635"}
synonym: "autosomal dominant deafness" BROAD [DOID:0050564]
synonym: "autosomal dominant isolated deafness" EXACT [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "autosomal dominant isolated neurosensory deafness type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant isolated neurosensory hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant isolated sensorineural deafness type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant isolated sensorineural hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant non-syndromic neurosensory deafness type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" RELATED [Orphanet:90635]
synonym: "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant nonsyndromic deafness" EXACT [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "autosomal dominant nonsyndromic genetic deafness" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic hearing impairment" EXACT DEPRECATED [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "autosomal dominant nonsyndromic hearing loss and deafness" EXACT [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "deafness, autosomal dominant" EXACT [OMIMPS:124900]
synonym: "nonsyndromic deafness, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "nonsyndromic genetic deafness, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0050564 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="ORDO:90635/attributed", source="ORDO:90635/ntbt", source="DOID:0050564", source="Orphanet:90635"}
xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"}
xref: UMLS:CN043649 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016297 {source="Orphanet:90635"} ! prelingual non-syndromic genetic deafness
is_a: MONDO:0016298 {source="Orphanet:90635"} ! postlingual non-syndromic genetic deafness
property_value: exactMatch DOID:0050564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043649
property_value: exactMatch Orphanet:90635

[Term]
id: MONDO:0019588
name: autosomal recessive nonsyndromic deafness
def: "Autosomal recessive form of nonsyndromic deafness." [MONDO:patterns/autosomal_recessive]
subset: clingen
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:90636"}
subset: prototype_pattern
synonym: "autosomal recessive isolated neurosensory deafness type DFNB" EXACT [Orphanet:90636]
synonym: "autosomal recessive isolated sensorineural deafness type DFNB" EXACT [Orphanet:90636]
synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" EXACT [Orphanet:90636]
synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" RELATED [Orphanet:90636]
synonym: "autosomal recessive nonsyndromic genetic deafness" EXACT [MONDO:design_pattern]
synonym: "deafness, autosomal recessive" EXACT [MONDO:0011791, OMIM:607197]
synonym: "deafness, neurosensory nonsyndromic recessive, DFN" RELATED [GARD:0001710]
synonym: "nonsyndromic deafness, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "nonsyndromic genetic deafness, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DC:0000110 {source="MONDO:equivalentTo"}
xref: DOID:0050565 {source="MONDO:equivalentTo"}
xref: GARD:0001710 {source="MONDO:equivalentTo"}
xref: ICD10:H90.3 {source="ORDO:90636/attributed", source="ORDO:90636/ntbt", source="DOID:0050565", source="Orphanet:90636"}
xref: MESH:C564609 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:607197 {source="OMIM-generic-entry", source="DOID:0050565", source="MONDO:equivalentTo"}
xref: OMIMPS:220290 {source="DC:0000110", source="DOID:0050565", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="DOID:0050565", source="MONDO:equivalentTo"}
xref: UMLS:C1846647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607197"}
xref: UMLS:CN206424 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016297 {source="Orphanet:90636"} ! prelingual non-syndromic genetic deafness
is_a: MONDO:0016298 {source="Orphanet:90636"} ! postlingual non-syndromic genetic deafness
property_value: exactMatch DOID:0050565
property_value: exactMatch http://identifiers.org/mesh/C564609
property_value: exactMatch http://identifiers.org/omim/607197
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1846647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206424
property_value: exactMatch Orphanet:90636

[Term]
id: MONDO:0019589
name: syndromic genetic deafness
subset: ordo_group_of_disorders {source="Orphanet:90642"}
synonym: "syndromic hearing loss" RELATED []
xref: ICD10:H90.3 {source="ORDO:90642/attributed", source="ORDO:90642/ntbt", source="Orphanet:90642"}
xref: Orphanet:90642 {source="MONDO:equivalentTo"}
xref: SCTID:232333009 {source="MONDO:equivalentTo"}
xref: UMLS:CN206426 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005365 {source="MONDO:Redundant", source="Orphanet:90642"} ! hearing loss disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019755 {source="Orphanet:90642"} ! developmental defect during embryogenesis
is_a: MONDO:0037940 ! inherited auditory system disease
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/232333009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206426
property_value: exactMatch Orphanet:90642

[Term]
id: MONDO:0019590
name: rare endocrine growth disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:90692"}
xref: Orphanet:90692 {source="MONDO:equivalentTo"}
xref: UMLS:CN206437 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="Orphanet:90692"} ! endocrine system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206437
property_value: exactMatch Orphanet:90692
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019591
name: panhypopituitarism
def: "Insufficient production of all the anterior pituitary hormones." [NCIT:P378]
subset: ordo_disease {source="Orphanet:90695"}
synonym: "complete hypopituitarism" EXACT [NCIT:C110940]
synonym: "Simmond's disease" EXACT [DOID:9410]
synonym: "Simmonds' disease" EXACT [CSP2005:2335-9587, DOID:9410, MTHICD9_2006:253.2]
xref: COHD:30365 {source="MONDO:equivalentTo"}
xref: DOID:9410 {source="MONDO:equivalentTo"}
xref: ICD10:E23.0 {source="MONDO:subClassOf", source="ORDO:90695/ntbt", source="Orphanet:90695", source="ORDO:90695/inclusion", source="DOID:9410"}
xref: ICD9:253.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9410"}
xref: MedDRA:10033662 {source="ORDO:90695/e", source="Orphanet:90695"}
xref: NCIT:C110940 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.70/1.72", source="DOID:9410"}
xref: Orphanet:90695 {source="MONDO:equivalentTo"}
xref: SCTID:32390006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.75/1.53", source="DOID:9410"}
xref: UMLS:C0242343 {source="ORDO:90695/e", source="MONDO:equivalentTo", source="Orphanet:90695", source="DOID:9410", source="NCIT:C110940"}
is_a: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form
property_value: closeMatch http://identifiers.org/mesh/C580003
property_value: closeMatch http://identifiers.org/snomedct/154700009
property_value: closeMatch http://identifiers.org/snomedct/190469009
property_value: closeMatch http://identifiers.org/snomedct/190475000
property_value: closeMatch http://identifiers.org/snomedct/267481002
property_value: exactMatch DOID:9410
property_value: exactMatch http://identifiers.org/meddra/10033662
property_value: exactMatch http://identifiers.org/snomedct/32390006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242343
property_value: exactMatch NCIT:C110940
property_value: exactMatch Orphanet:90695

[Term]
id: MONDO:0019592
name: obsolete disorder of sex development
def: "In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." [MESH:D012734]
is_obsolete: true
replaced_by: MONDO:0002145

[Term]
id: MONDO:0019593
name: 46,XX disorder of sex development induced by fetal androgens excess
subset: ordo_group_of_disorders {source="Orphanet:90776"}
synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776]
xref: ICD10:E25.0 {source="ORDO:90776/attributed", source="ORDO:90776/ntbt", source="Orphanet:90776"}
xref: Orphanet:90776 {source="MONDO:equivalentTo"}
xref: UMLS:CN227655 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020039 {source="Orphanet:90776"} ! 46,XX disorder of sex development induced by androgens excess
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227655
property_value: exactMatch Orphanet:90776

[Term]
id: MONDO:0019594
name: 46,XY disorder of sex development due to a testosterone synthesis defect
subset: ordo_group_of_disorders {source="Orphanet:90783"}
synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [Orphanet:90783]
xref: Orphanet:90783 {source="MONDO:equivalentTo"}
xref: UMLS:CN227656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017970 {source="MONDO:Redundant", source="Orphanet:90783"} ! 46,XY disorder of sex development due to impaired androgen production
is_a: MONDO:0045012 ! steroid metabolism disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227656
property_value: exactMatch Orphanet:90783

[Term]
id: MONDO:0019595
name: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
subset: ordo_group_of_disorders {source="Orphanet:90786"}
synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [Orphanet:90786]
xref: Orphanet:90786 {source="MONDO:equivalentTo"}
xref: UMLS:CN227657 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017977 {source="Orphanet:90786"} ! 46,XY disorder of sex development of gynecological interest
is_a: MONDO:0019594 {source="Orphanet:90786"} ! 46,XY disorder of sex development due to a testosterone synthesis defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227657
property_value: exactMatch Orphanet:90786

[Term]
id: MONDO:0019596
name: 46,XY disorder of sex development due to testicular steroidogenesis defect
subset: ordo_group_of_disorders {source="Orphanet:90787"}
synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787]
xref: ICD10:E29.1 {source="ORDO:90787/attributed", source="ORDO:90787/ntbt", source="Orphanet:90787"}
xref: Orphanet:90787 {source="MONDO:equivalentTo"}
xref: UMLS:CN227658 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017977 {source="Orphanet:90787"} ! 46,XY disorder of sex development of gynecological interest
is_a: MONDO:0019594 {source="Orphanet:90787"} ! 46,XY disorder of sex development due to a testosterone synthesis defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227658
property_value: exactMatch Orphanet:90787

[Term]
id: MONDO:0019597
name: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
def: "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796]
subset: ordo_disease {source="Orphanet:90796"}
xref: ICD10:E29.1 {source="ORDO:90796/attributed", source="ORDO:90796/ntbt", source="Orphanet:90796"}
xref: Orphanet:90796 {source="MONDO:equivalentTo"}
xref: UMLS:CN206443 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008730 ! congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
is_a: MONDO:0019596 {source="Orphanet:90796"} ! 46,XY disorder of sex development due to testicular steroidogenesis defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268285
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206443
property_value: exactMatch Orphanet:90796

[Term]
id: MONDO:0019598
name: obsolete fragile X syndrome
is_obsolete: true
replaced_by: MONDO:0010383

[Term]
id: MONDO:0019599
name: primary lipodystrophy
def: "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970]
subset: ordo_group_of_disorders {source="Orphanet:90970"}
xref: ICD10:E88.1 {source="ORDO:90970/attributed", source="ORDO:90970/ntbt", source="Orphanet:90970"}
xref: Orphanet:90970 {source="MONDO:equivalentTo"}
is_a: MONDO:0019296 {source="Orphanet:90970"} ! subcutaneous tissue disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: exactMatch Orphanet:90970

[Term]
id: MONDO:0019600
name: xeroderma pigmentosum
def: "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." [Orphanet:910]
subset: gard_rare {source="GARD:0007910"}
subset: ordo_disease {source="Orphanet:910"}
synonym: "angioma pigmentosum atrophicum" EXACT [NCIT:C3452]
synonym: "atrophoderma pigmentosum" EXACT [NCIT:C3452]
synonym: "Kaposi dermatosis" EXACT [NCIT:C3452]
synonym: "Kaposi disease" EXACT [NCIT:C3452]
synonym: "melanosis lenticularis progressiva" EXACT [NCIT:C3452]
synonym: "pigmented epitheliomatosis" EXACT [NCIT:C3452]
synonym: "xeroderma of Kaposi" EXACT [NCIT:C3452]
synonym: "xeroderma pigmentosa" RELATED [GARD:0007910]
synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452]
synonym: "XP" EXACT [Orphanet:910]
xref: DOID:0050427 {source="MONDO:equivalentTo"}
xref: GARD:0007910 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.1 {source="ORDO:910/e", source="ORDO:910/specific", source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427"}
xref: MedDRA:10048220 {source="ORDO:910/e", source="Orphanet:910"}
xref: MESH:D014983 {source="ORDO:910/e", source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="MONDO:ontobio"}
xref: NCIT:C3452 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0050427"}
xref: Orphanet:910 {source="MONDO:equivalentTo", source="DOID:0050427"}
xref: SCTID:44600005 {source="MONDO:equivalentTo", source="DOID:0050427", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0043346 {source="ORDO:910/e", source="Orphanet:910", source="MONDO:equivalentTo", source="NCIT:C3452", source="DOID:0050427"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0015331 {source="Orphanet:910"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015333 {source="Orphanet:910"} ! progeroid syndrome
is_a: MONDO:0015945 {source="Orphanet:910"} ! polymalformative genetic syndrome with increased risk of developing cancer
is_a: MONDO:0015951 {source="Orphanet:910", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0019304 {source="Orphanet:910"} ! rare photodermatosis
is_a: MONDO:0020045 {source="Orphanet:910"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect
property_value: exactMatch DOID:0050427
property_value: exactMatch http://identifiers.org/meddra/10048220
property_value: exactMatch http://identifiers.org/mesh/D014983
property_value: exactMatch http://identifiers.org/snomedct/44600005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043346
property_value: exactMatch NCIT:C3452
property_value: exactMatch Orphanet:910
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum xsd:anyURI {source="GARD:0007910"}

[Term]
id: MONDO:0019601
name: autosomal recessive axonal hereditary motor and sensory neuropathy
def: "Autosomal recessive form of axonal hereditary motor and sensory neuropathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:91024"}
synonym: "AR-CMT2" EXACT [Orphanet:91024]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024]
synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:G60.0 {source="Orphanet:91024", source="ORDO:91024/ntbt", source="ORDO:91024/inclusion"}
xref: Orphanet:91024 {source="MONDO:equivalentTo"}
xref: UMLS:CN206449 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018775 {source="MONDO:Redundant", source="MONDOLEX:0019601", source="Orphanet:91024"} ! axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206449
property_value: exactMatch Orphanet:91024

[Term]
id: MONDO:0019602
name: other inborn metabolic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:91088"}
synonym: "other metabolic disease" RELATED [Orphanet:91088]
xref: Orphanet:91088 {source="MONDO:equivalentTo"}
xref: UMLS:CN206450 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="Orphanet:91088"} ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206450
property_value: exactMatch Orphanet:91088

[Term]
id: MONDO:0019603
name: osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
def: "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." [Orphanet:91133]
subset: ordo_malformation_syndrome {source="Orphanet:91133"}
xref: ICD10:Q87.5 {source="Orphanet:91133", source="ORDO:91133/attributed", source="ORDO:91133/ntbt"}
xref: Orphanet:91133 {source="MONDO:equivalentTo"}
xref: SCTID:722111004 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:CN206455 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:91133", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:91133"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/722111004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206455
property_value: exactMatch Orphanet:91133

[Term]
id: MONDO:0019604
name: acquired monoclonal Ig light chain-associated Fanconi syndrome
def: "Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype." [Orphanet:91136]
subset: ordo_disease {source="Orphanet:91136"}
synonym: "acquired Fanconi syndrome secondary to monoclonal gammopathy" EXACT [Orphanet:91136]
synonym: "acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome" EXACT [Orphanet:91136]
xref: ICD10:E72.0 {source="ORDO:91136/ntbt", source="Orphanet:91136"}
xref: Orphanet:91136 {source="MONDO:equivalentTo"}
xref: SCTID:724099000 {source="MONDO:equivalentTo"}
xref: UMLS:C4510369 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN206457 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019747 {source="Orphanet:91136"} ! hematological disorder with renal involvement
property_value: exactMatch http://identifiers.org/snomedct/724099000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510369
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206457
property_value: exactMatch Orphanet:91136

[Term]
id: MONDO:0019605
name: immunotactoid or fibrillary glomerulopathy
def: "Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." [Orphanet:91137]
subset: gard_rare {source="GARD:0012741"}
subset: ordo_group_of_disorders {source="Orphanet:91137"}
synonym: "fibrillary glomerulonephritis and immunotactoid glomerulopathy" RELATED [GARD:0012741]
synonym: "Immunotactoid or fibrillary glomerulonephritis" EXACT [Orphanet:91137]
xref: GARD:0012741 {source="MONDO:equivalentTo"}
xref: ICD10:N03.6 {source="ORDO:91137/ntbt", source="Orphanet:91137"}
xref: Orphanet:91137 {source="MONDO:equivalentTo"}
is_a: MONDO:0019724 {source="Orphanet:91137"} ! secondary glomerular disease
property_value: exactMatch Orphanet:91137
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy xsd:anyURI {source="GARD:0012741"}

[Term]
id: MONDO:0019606
name: simple cryoglobulinemia
def: "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." [Orphanet:91139]
subset: ordo_disease {source="Orphanet:91139"}
synonym: "cryoglobulinemia type 1" EXACT [Orphanet:91139]
xref: ICD10:D89.1 {source="ORDO:91139/ntbt", source="MONDO:relatedTo", source="Orphanet:91139"}
xref: Orphanet:91139 {source="MONDO:equivalentTo"}
xref: SCTID:723674005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510006 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206459 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000603 ! autoimmune disease of cardiovascular system
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0015939 {source="Orphanet:91139"} ! systemic autoimmune disease
is_a: MONDO:0016178 {source="Orphanet:91139"} ! peripheral neuropathy associated with monoclonal gammopathy
is_a: MONDO:0016634 {source="Orphanet:91139"} ! thrombotic disorder due to an acquired coagulation factors defect
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/723674005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206459
property_value: exactMatch Orphanet:91139

[Term]
id: MONDO:0019607
name: unspecified juvenile idiopathic arthritis
def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." [Orphanet:91140]
subset: ordo_disease {source="Orphanet:91140"}
synonym: "unspecified JIA" EXACT [Orphanet:91140]
xref: ICD10:M08.8 {source="Orphanet:91140", source="ORDO:91140/ntbt"}
xref: Orphanet:91140 {source="MONDO:equivalentTo"}
is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis
property_value: exactMatch Orphanet:91140

[Term]
id: MONDO:0019608
name: 46,XX disorder of sex development induced by maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:91144"}
synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144]
xref: ICD10:Q56.2 {source="Orphanet:91144", source="ORDO:91144/ntbt"}
xref: Orphanet:91144 {source="MONDO:equivalentTo"}
xref: UMLS:CN227662 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020039 {source="Orphanet:91144"} ! 46,XX disorder of sex development induced by androgens excess
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227662
property_value: exactMatch Orphanet:91144

[Term]
id: MONDO:0019609
name: Zellweger syndrome
def: "Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.x" [Orphanet:912]
comment: Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
subset: ordo_disease {source="Orphanet:912"}
synonym: "cerebrohepatorenal syndrome" EXACT [DOID:905, Orphanet:912]
synonym: "congenital iron overload" EXACT [CSP2005:1849-1804, DOID:905]
synonym: "peroxisome biogenesis disorder" EXACT EXCLUDE [DOID:905]
synonym: "Zellweger leukodystrophy" RELATED [GARD:0007917]
synonym: "ZS" BROAD [Orphanet:912]
synonym: "ZWS" RELATED [GARD:0007917]
xref: DOID:905 {source="MONDO:equivalentTo"}
xref: GARD:0007917 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E71.510 {source="MONDO:equivalentTo", source="DOID:905"}
xref: ICD10:Q87.8 {source="Orphanet:912", source="ORDO:912/ntbt", source="ORDO:912/inclusion"}
xref: MESH:D015211 {source="ORDO:912/e", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905"}
xref: NCIT:C85239 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="DOID:905", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
xref: Orphanet:912 {source="MONDO:equivalentTo", source="DOID:905"}
xref: SCTID:88469006 {source="MONDO:equivalentTo", source="DOID:905", source="MONDO:kboom-pr-0.93/0.74/1.46"}
xref: UMLS:C0043459 {source="NCIT:C85239", source="ORDO:912/e", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin
is_a: MONDO:0016398 {source="Orphanet:912"} ! peroxisomal disease with epilepsy
is_a: MONDO:0017133 ! genetic systemic or rheumatologic disease
is_a: MONDO:0019234 {source="MONDOLEX:0019609", source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder
is_a: MONDO:0019743 {source="Orphanet:912"} ! nephropathy secondary to a storage or other metabolic disease
is_a: MONDO:0020234 {source="Orphanet:912"} ! craniofacial anomaly with cataract
is_a: MONDO:0020244 {source="Orphanet:912"} ! unclassified primitive or secondary maculopathy
is_a: MONDO:0020280 {source="Orphanet:912"} ! metabolic disease with cataract
is_a: MONDO:0020281 {source="Orphanet:912"} ! metabolic disease with pigmentary retinitis
property_value: exactMatch DOID:905
property_value: exactMatch http://identifiers.org/mesh/D015211
property_value: exactMatch http://identifiers.org/snomedct/88469006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043459
property_value: exactMatch NCIT:C85239
property_value: exactMatch Orphanet:912

[Term]
id: MONDO:0019610
name: Zollinger-Ellison syndrome
def: "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." [Orphanet:913]
subset: ordo_disease {source="Orphanet:913"}
synonym: "gastrinoma" RELATED [Orphanet:913]
synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918]
synonym: "Z E syndrome" RELATED [GARD:0007918]
synonym: "Z-E syndrome" RELATED []
synonym: "ZES" RELATED [GARD:0007918]
synonym: "Zollinger Ellison syndrome" EXACT [NCIT:C3453]
synonym: "Zollinger-Ellison syndrome" EXACT [MONDO:ambiguous, NCIT:C3453]
synonym: "Zollinger-Ellison syndrome (disease)" EXACT [MONDO:0006020]
xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"}
xref: EFO:0007549 {source="MONDO:equivalentTo"}
xref: GARD:0007918 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002044 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:C25.4 {source="MONDO:relatedTo", source="ORDO:913/ntbt", source="Orphanet:913"}
xref: ICD10:D37.7 {source="ORDO:913/ntbt", source="Orphanet:913"}
xref: ICD10:E16.4 {source="DOID:0050782", source="ORDO:913/ntbt", source="Orphanet:913"}
xref: MedDRA:10017852 {source="ORDO:913/e", source="Orphanet:913"}
xref: MESH:D015043 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549"}
xref: NCIT:C3453 {source="DOID:0050782", source="MONDO:kboom-pr-0.92/0.84/0.19", source="MONDO:equivalentTo"}
xref: Orphanet:913 {source="MONDO:equivalentTo"}
xref: SCTID:53132006 {source="DOID:0050782", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0043515 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="NCIT:C3453", source="Orphanet:913"}
is_a: MONDO:0001770 {source="linkedlifedata"} ! gastrin secretion abnormality
is_a: MONDO:0005815 ! pancreatic neuroendocrine neoplasm
is_a: MONDO:0021058 {source="MONDOLEX:0019610", source="NCIT:C3453"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0001126 ! gastric ulcer (disease)
relationship: disease_has_feature MONDO:0015063 {source="Orphanet:913"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: disease_has_feature MONDO:0019954 {source="Orphanet:913", source="Orphanet:913/inferred"} ! pancreatic neuroendocrine tumor
property_value: closeMatch http://identifiers.org/snomedct/154694003
property_value: closeMatch http://identifiers.org/snomedct/190443003
property_value: closeMatch http://identifiers.org/snomedct/267477002
property_value: closeMatch http://identifiers.org/snomedct/302824004
property_value: exactMatch DOID:0050782
property_value: exactMatch http://identifiers.org/meddra/10017852
property_value: exactMatch http://identifiers.org/mesh/D015043
property_value: exactMatch http://identifiers.org/mesh/D015408
property_value: exactMatch http://identifiers.org/snomedct/53132006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043515
property_value: exactMatch NCIT:C3453
property_value: exactMatch Orphanet:913

[Term]
id: MONDO:0019611
name: TSH-secreting pituitary adenoma
def: "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." [NCIT:C8011]
subset: ordo_disease {source="Orphanet:91347"}
synonym: "pituitary thyrotrophic adenoma" EXACT [Orphanet:91347]
synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing pituitary adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting pituitary adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone-producing adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone-secreting pituitary adenoma" EXACT [Orphanet:91347]
synonym: "thyrotrope adenoma" EXACT [NCIT:C8011]
synonym: "thyrotroph adenoma" EXACT [NCIT:C8011, Orphanet:91347]
synonym: "thyrotrophic adenoma" EXACT [NCIT:C8011]
synonym: "thyrotropin producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyrotropinoma" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH producing pituitary adenoma" EXACT [NCIT:C8011]
synonym: "TSH producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH secreting pituitary adenoma" EXACT [NCIT:C8011]
synonym: "TSH secreting pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSH-oma" EXACT [Orphanet:91347]
synonym: "TSH-producing adenoma" EXACT [NCIT:C8011]
synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSHoma" EXACT [NCIT:C8011]
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:91347/ntbt", source="Orphanet:91347"}
xref: NCIT:C8011 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.83/10.15"}
xref: Orphanet:91347 {source="MONDO:equivalentTo"}
xref: UMLS:C0346303 {source="NCIT:C8011", source="MONDO:equivalentTo", source="ORDO:91347/e", source="Orphanet:91347"}
is_a: MONDO:0003837 {source="MONDOLEX:0019611", source="NCIT:C8011"} ! TSH producing pituitary tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346303
property_value: exactMatch NCIT:C8011
property_value: exactMatch Orphanet:91347

[Term]
id: MONDO:0019612
name: functioning gonadotropic adenoma
def: "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." [Orphanet:91348]
subset: ordo_disease {source="Orphanet:91348"}
synonym: "functioning pituitary gonadotropic adenoma" EXACT [Orphanet:91348]
synonym: "gonadotroph adenoma" EXACT [Orphanet:91348]
xref: ICD10:D35.2 {source="ORDO:91348/ntbt", source="MONDO:relatedTo", source="Orphanet:91348"}
xref: Orphanet:91348 {source="MONDO:equivalentTo"}
xref: SCTID:254960002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346304 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:91348/e", source="Orphanet:91348"}
is_a: MONDO:0003429 {source="MONDO:Redundant", source="Orphanet:91348"} ! functioning pituitary gland adenoma
property_value: exactMatch http://identifiers.org/snomedct/254960002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346304
property_value: exactMatch Orphanet:91348

[Term]
id: MONDO:0019613
name: non-functioning pituitary adenoma
def: "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." [NCIT:C4348]
subset: ordo_disease {source="Orphanet:91349"}
synonym: "functionless adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "functionless adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "functionless adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "functionless adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "functionless pituitary adenoma" EXACT [NCIT:C4348]
synonym: "functionless pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "NFPA" EXACT [Orphanet:91349]
synonym: "non-functioning adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "non-functioning neoplasm of the pituitary" EXACT EXCLUDE [DOID:5715]
synonym: "non-functioning pituitary adenoma" EXACT [NCIT:C4348]
synonym: "non-functioning pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "non-secretory pituitary adenoma" EXACT [NCIT:C4348]
synonym: "non-secretory pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "silent pituitary gland adenoma" EXACT [NCIT:C4348]
xref: DOID:5715 {source="MONDO:equivalentTo"}
xref: EFO:0008516 {source="MONDO:equivalentTo"}
xref: ICD10:D35.2 {source="MONDO:relatedTo", source="ORDO:91349/ntbt", source="Orphanet:91349"}
xref: NCIT:C4348 {source="MONDO:equivalentTo", source="DOID:5715", source="MONDO:kboom-pr-0.94/0.83/1.02"}
xref: Orphanet:91349 {source="MONDO:equivalentTo"}
xref: SCTID:254962005 {source="MONDO:equivalentTo", source="DOID:5715", source="MONDO:kboom-pr-1.00/0.80/9.22"}
is_a: MONDO:0003603 {source="MONDO:Entailed", source="NCIT:C4348", source="linkedlifedata"} ! non-functioning pituitary gland neoplasm
is_a: MONDO:0006373 {source="DOID:5715", source="EFO:0008516", source="MONDO:Redundant", source="MONDOLEX:0019613", source="NCIT:C4348", source="Orphanet:91349", source="linkedlifedata"} ! pituitary gland adenoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338078
property_value: exactMatch DOID:5715
property_value: exactMatch http://identifiers.org/snomedct/254962005
property_value: exactMatch NCIT:C4348
property_value: exactMatch Orphanet:91349

[Term]
id: MONDO:0019614
name: pituitary deficiency due to Rathke's pouch cysts
subset: ordo_disease {source="Orphanet:91350"}
synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [Orphanet:91350]
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="Orphanet:91350", source="ORDO:91350/ntbt"}
xref: Orphanet:91350 {source="MONDO:equivalentTo"}
is_a: MONDO:0019833 {source="Orphanet:91350"} ! pituitary hormone deficiency from tumoral origin
property_value: exactMatch Orphanet:91350

[Term]
id: MONDO:0019615
name: pituitary dermoid and epidermoid cysts
subset: ordo_disease {source="Orphanet:91351"}
xref: Orphanet:91351 {source="MONDO:equivalentTo"}
is_a: MONDO:0015077 {source="Orphanet:91351"} ! adrenal/paraganglial tumor
is_a: MONDO:0017611 ! pituitary tumor
is_a: MONDO:0019833 {source="Orphanet:91351"} ! pituitary hormone deficiency from tumoral origin
property_value: exactMatch Orphanet:91351

[Term]
id: MONDO:0019616
name: obsolete germinoma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0002999

[Term]
id: MONDO:0019617
name: pituitary deficiency due to empty sella turcica syndrome
subset: ordo_disease {source="Orphanet:91354"}
synonym: "hypopituitarism due to empty sella turcica syndrome" EXACT [Orphanet:91354]
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="ORDO:91354/ntbt"}
xref: Orphanet:91354 {source="MONDO:equivalentTo"}
xref: SCTID:715668008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275064 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN206468 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019834 {source="Orphanet:91354"} ! pituitary hormone deficiency from meningeal origin
property_value: exactMatch http://identifiers.org/snomedct/715668008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206468
property_value: exactMatch Orphanet:91354

[Term]
id: MONDO:0019618
name: Sheehan syndrome
def: "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." [NCIT:P378]
subset: ordo_malformation_syndrome {source="Orphanet:91355"}
synonym: "postpartum hypopituitarism" EXACT [DOID:9476, NCIT:C35300]
synonym: "postpartum panhypopituitarism" RELATED [GARD:0007630]
synonym: "postpartum panhypopituitary syndrome" RELATED [GARD:0007630]
synonym: "postpartum pituitary necrosis" RELATED [GARD:0007630]
synonym: "Sheehan's syndrome" EXACT [DOID:9476]
xref: DOID:9476 {source="MONDO:equivalentTo"}
xref: GARD:0007630 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:91355/ntbt", source="Orphanet:91355", source="DOID:9476"}
xref: MedDRA:10036297 {source="ORDO:91355/e", source="Orphanet:91355"}
xref: NCIT:C35300 {source="MONDO:equivalentTo", source="DOID:9476", source="MONDO:kboom-pr-1.00/0.91/28.52"}
xref: Orphanet:91355 {source="MONDO:equivalentTo"}
xref: SCTID:290653008 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:9476"}
xref: UMLS:C0242342 {source="ORDO:91355/e", source="MONDO:equivalentTo", source="NCIT:C35300", source="Orphanet:91355", source="DOID:9476"}
is_a: MONDO:0002254 {source="MONDOLEX:0019618", source="NCIT:C35300"} ! syndromic disease
is_a: MONDO:0019841 {source="Orphanet:91355"} ! pituitary hormone defiency from vascular origin
property_value: closeMatch http://identifiers.org/snomedct/15045007
property_value: closeMatch http://identifiers.org/snomedct/154703006
property_value: closeMatch http://identifiers.org/snomedct/190469009
property_value: closeMatch http://identifiers.org/snomedct/237684005
property_value: closeMatch http://identifiers.org/snomedct/267482009
property_value: exactMatch DOID:9476
property_value: exactMatch http://identifiers.org/meddra/10036297
property_value: exactMatch http://identifiers.org/snomedct/290653008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242342
property_value: exactMatch NCIT:C35300
property_value: exactMatch Orphanet:91355

[Term]
id: MONDO:0019619
name: duplication of the esophagus
subset: ordo_group_of_disorders {source="Orphanet:91357"}
xref: ICD10:Q39.8 {source="ORDO:91357/attributed", source="ORDO:91357/ntbt", source="Orphanet:91357"}
xref: Orphanet:91357 {source="MONDO:equivalentTo"}
is_a: MONDO:0015207 {source="Orphanet:91357"} ! non-syndromic esophageal malformation
property_value: exactMatch Orphanet:91357

[Term]
id: MONDO:0019620
name: congenital esophageal diverticulum
def: "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." [Orphanet:91358]
subset: ordo_morphological_anomaly {source="Orphanet:91358"}
synonym: "congenital esophageal pouch" EXACT [Orphanet:91358]
xref: ICD10:Q39.6 {source="ORDO:91358/attributed", source="ORDO:91358/ntbt", source="Orphanet:91358"}
xref: ICD9:750.4 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:91358 {source="MONDO:equivalentTo"}
xref: SCTID:204667006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
is_a: MONDO:0015207 {source="Orphanet:91358"} ! non-syndromic esophageal malformation
property_value: exactMatch http://identifiers.org/snomedct/204667006
property_value: exactMatch Orphanet:91358

[Term]
id: MONDO:0019621
name: chronic pneumonitis of infancy
def: "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term)." [Orphanet:91359]
subset: ordo_disease {source="Orphanet:91359"}
synonym: "CPI" EXACT [Orphanet:91359]
xref: ICD10:J84.0 {source="ORDO:91359/ntbt", source="Orphanet:91359"}
xref: Orphanet:91359 {source="MONDO:equivalentTo"}
xref: SCTID:708026002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3872848 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206472 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017019 {source="Orphanet:91359"} ! interstitial lung disease specific to infancy
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/708026002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3872848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206472
property_value: exactMatch Orphanet:91359

[Term]
id: MONDO:0019622
name: non-specific interstitial pneumonia
def: "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." [NCIT:C35717]
subset: ordo_disease {source="Orphanet:91364"}
synonym: "non-specific idiopathic interstitial pneumonia" EXACT [Orphanet:91364]
synonym: "nonspecific interstitial pneumonia" EXACT [MONDO:0002431]
synonym: "NSIP" EXACT [DOID:2801, Orphanet:91364]
xref: DOID:2801 {source="MONDO:equivalentTo"}
xref: ICD10:J84.8 {source="Orphanet:91364", source="ORDO:91364/ntbt"}
xref: ICD9:516.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35717 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.20", source="DOID:2801"}
xref: Orphanet:91364 {source="MONDO:equivalentTo"}
xref: SCTID:129452008 {source="MONDO:equivalentTo", source="DOID:2801", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1290344 {source="NCIT:C35717", source="ORDO:91364/e", source="Orphanet:91364", source="MONDO:equivalentTo", source="DOID:2801"}
is_a: MONDO:0002429 {source="DOID:2801", source="MONDOLEX:0019622", source="NCIT:C35717", source="Orphanet:91364", source="https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia", source="linkedlifedata"} ! idiopathic interstitial pneumonia
property_value: exactMatch DOID:2801
property_value: exactMatch http://identifiers.org/snomedct/129452008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290344
property_value: exactMatch NCIT:C35717
property_value: exactMatch Orphanet:91364

[Term]
id: MONDO:0019623
name: hereditary angioedema
def: "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:91378]
subset: ordo_disease {source="Orphanet:91378"}
synonym: "angioedema, hereditary" RELATED [GARD:0005979]
synonym: "deficiency of C1 esterase inhibitor" RELATED [GARD:0005979]
synonym: "familial angioneurotic edema" EXACT [Orphanet:91378]
synonym: "HAE" EXACT [Orphanet:91378]
synonym: "HANE" EXACT [CSP2005:1849-1576, DOID:14735]
synonym: "hereditary angioedema" EXACT [DOID:14735, MONDO:patterns/hereditary, MTHICD9_2006:277.6]
synonym: "hereditary angioneurotic edema" EXACT [Orphanet:91378]
synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378]
synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378]
xref: DOID:14735 {source="MONDO:equivalentTo"}
xref: GARD:0005979 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D84.1 {source="ORDO:91378/ntbt", source="Orphanet:91378", source="ORDO:91378/inclusion"}
xref: MedDRA:10019860 {source="ORDO:91378/e", source="Orphanet:91378"}
xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"}
xref: NCIT:C84758 {source="DOID:14735", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:91378 {source="MONDO:equivalentTo"}
xref: SCTID:82966003 {source="DOID:14735", source="MONDO:equivalentTo"}
xref: UMLS:C0019243 {source="DOID:14735", source="MEDGEN:kboom-pr98-c99", source="NCIT:C84758", source="MONDO:equivalentTo", source="Orphanet:91378"}
xref: UMLS:CN239191 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010481 {source="DOID:14735", source="MESH:D054179", source="MONDO:Redundant", source="MONDOLEX:0019623"} ! angioedema
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0010481 ! angioedema
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:14735
property_value: exactMatch http://identifiers.org/meddra/10019860
property_value: exactMatch http://identifiers.org/mesh/D054179
property_value: exactMatch http://identifiers.org/snomedct/82966003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239191
property_value: exactMatch NCIT:C84758
property_value: exactMatch Orphanet:91378

[Term]
id: MONDO:0019624
name: acquired angioedema
def: "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." [Orphanet:91385]
subset: gard_rare {source="GARD:0008605"}
subset: ordo_disease {source="Orphanet:91385"}
synonym: "AAE" EXACT [Orphanet:91385]
synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired]
synonym: "acquired angioneurotic edema" EXACT [Orphanet:91385]
synonym: "acquired bradykinine-induced angioedema" EXACT [Orphanet:91385]
synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385]
synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385]
synonym: "angioedema, acquired" RELATED [GARD:0008605]
xref: GARD:0008605 {source="MONDO:equivalentTo"}
xref: ICD10:T78.3 {source="ORDO:91385/e", source="Orphanet:91385"}
xref: MESH:C538173 {source="ORDO:91385/e", source="Orphanet:91385", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:91385 {source="MONDO:equivalentTo"}
xref: UMLS:C2931758 {source="ORDO:91385/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:91385", source="MONDO:equivalentTo"}
is_a: MONDO:0019013 {source="MONDOLEX:0019624", source="Orphanet:91385"} ! non-histaminic angioedema
intersection_of: MONDO:0010481 ! angioedema
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C538173
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931758
property_value: exactMatch Orphanet:91385
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema xsd:anyURI {source="GARD:0008605"}

[Term]
id: MONDO:0019625
name: familial thoracic aortic aneurysm and aortic dissection
def: "Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." [Orphanet:91387]
subset: gard_rare
subset: ordo_disease {source="Orphanet:229", source="Orphanet:91387"}
subset: prototype_pattern
synonym: "annuloaortic ectasia" EXACT [Orphanet:229]
synonym: "cystic medial necrosis of aorta" EXACT [Orphanet:229]
synonym: "Erdheim cystic medial necrosis of aorta" RELATED [GARD:0001654]
synonym: "Erdheim disease" EXACT [GARD:0001654, Orphanet:229]
synonym: "familial aortic aneurysm" RELATED [GARD:0002249]
synonym: "familial aortic dissection" EXACT [GARD:0001654, OMIMPS:607086, Orphanet:229]
synonym: "familial TAAD" EXACT [Orphanet:91387]
synonym: "familial thoracic aortic aneurysm" RELATED [GARD:0002249]
synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:0002249]
synonym: "FTAAD" EXACT []
xref: GARD:0001654 {source="MONDO:equivalentTo"}
xref: GARD:0002249 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:I71.0 {source="Orphanet:229", source="ORDO:229/attributed", source="ORDO:229/ntbt"}
xref: ICD10:Q87.4 {source="Orphanet:91387", source="ORDO:91387/attributed", source="ORDO:91387/ntbt"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:607086 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:229 {source="GARD:0001654", source="MONDO:equivalentTo", source="OMIM:607086"}
xref: Orphanet:91387 {comment="OMIM:607086", source="MONDO:equivalentTo"}
xref: SCTID:45894003 {source="MONDO:equivalentTo"}
xref: SCTID:764965000 {source="MONDO:equivalentTo"}
xref: UMLS:C0392775 {source="MEDGEN:kboom-pr97-c98", source="GARD:0001654", source="Orphanet:229", source="MONDO:equivalentTo", source="OMIM:607086"}
xref: UMLS:CN118826 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017311 {source="Orphanet:91387"} ! rare disease with thoracic aortic aneurysm and aortic dissection
relationship: excluded_subClassOf MONDO:0017310 {source="Orphanet:91387"} ! Marfan and Marfan-related disorder
property_value: exactMatch http://identifiers.org/snomedct/45894003
property_value: exactMatch http://identifiers.org/snomedct/764965000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118826
property_value: exactMatch Orphanet:229
property_value: exactMatch Orphanet:91387

[Term]
id: MONDO:0019626
name: isolated ankyloblepharon filiforme adnatum
def: "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." [Orphanet:91397]
subset: ordo_morphological_anomaly {source="Orphanet:91397"}
xref: ICD10:Q10.3 {source="Orphanet:91397", source="ORDO:91397/attributed", source="ORDO:91397/ntbt"}
xref: Orphanet:91397 {source="MONDO:equivalentTo"}
is_a: MONDO:0015217 {source="Orphanet:91397"} ! non-syndromic developmental defect of the eye
is_a: MONDO:0015501 {source="Orphanet:91397"} ! syndrome or malformation associated with head and neck malformations
is_a: MONDO:0020155 {source="Orphanet:91397"} ! eyelid border anomaly
property_value: exactMatch Orphanet:91397

[Term]
id: MONDO:0019627
name: isolated congenital alacrima
def: "Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." [Orphanet:91416]
subset: ordo_disease {source="Orphanet:91416"}
synonym: "nonsyndromic congenital alacrima" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q10.6 {source="ORDO:91416/attributed", source="ORDO:91416/ntbt", source="Orphanet:91416"}
xref: Orphanet:91416 {source="MONDO:equivalentTo"}
xref: SCTID:717262004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273963 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020194 {source="MONDO:Redundant", source="Orphanet:91416"} ! congenital alacrima
intersection_of: MONDO:0020194 ! congenital alacrima
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863199
property_value: exactMatch http://identifiers.org/snomedct/717262004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273963
property_value: exactMatch Orphanet:91416

[Term]
id: MONDO:0019628
name: Rieger anomaly
def: "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly (see this term)." [Orphanet:91483]
subset: ordo_morphological_anomaly {source="Orphanet:91483"}
xref: ICD10:Q13.8 {source="Orphanet:91483", source="ORDO:91483/inclusion", source="ORDO:91483/ntbt"}
xref: MedDRA:10059198 {source="ORDO:91483/e", source="Orphanet:91483"}
xref: Orphanet:91483 {source="MONDO:equivalentTo"}
is_a: MONDO:0011119 {source="Orphanet:91483"} ! iridogoniodysgenesis
property_value: exactMatch http://identifiers.org/meddra/10059198
property_value: exactMatch Orphanet:91483

[Term]
id: MONDO:0019629
name: sclerocornea (disease)
def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [DOID:0060252, http://en.wikipedia.org/wiki/Sclerocornea, PMID:3994576]
subset: ordo_morphological_anomaly {source="Orphanet:91490"}
synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252]
synonym: "sclerocornea" EXACT [MONDO:ambiguous]
xref: DOID:0060252 {source="MONDO:equivalentTo"}
xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q13.3 {source="ORDO:91490/specific", source="ORDO:91490/e", source="Orphanet:91490"}
xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:91490 {source="DOID:0060252", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:0060252", source="MESH:C565209"} ! corneal disease
is_a: MONDO:0020219 {source="Orphanet:91490"} ! corneogoniodysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853235
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866984
property_value: exactMatch DOID:0060252
property_value: exactMatch http://identifiers.org/mesh/C565209
property_value: exactMatch Orphanet:91490

[Term]
id: MONDO:0019630
name: congenital ectropion uveae
def: "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." [Orphanet:91491]
subset: ordo_malformation_syndrome {source="Orphanet:91491"}
xref: ICD10:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="ORDO:91491/attributed", source="ORDO:91491/ntbt"}
xref: Orphanet:91491 {source="MONDO:equivalentTo"}
is_a: MONDO:0011119 {source="Orphanet:91491"} ! iridogoniodysgenesis
property_value: exactMatch Orphanet:91491

[Term]
id: MONDO:0019631
name: persistent hyperplastic primary vitreous
def: "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" [MESH:D054514]
subset: ordo_disease {source="Orphanet:91495"}
synonym: "congenital retinal detachment" EXACT [Orphanet:91495]
synonym: "ncRNA disease" EXACT [Orphanet:91495]
synonym: "non-syndromic congenital retinal non-attachment" EXACT [Orphanet:91495]
synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495]
synonym: "PFVS" EXACT [Orphanet:91495]
synonym: "PHPV" EXACT [Orphanet:91495]
xref: DOID:0060282 {source="MONDO:equivalentTo"}
xref: ICD10:Q14.0 {source="Orphanet:91495", source="ORDO:91495/attributed", source="ORDO:91495/ntbt"}
xref: MESH:D054514 {source="ORDO:91495/e", source="Orphanet:91495", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0060282"}
xref: OMIMPS:221900 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:91495 {source="MONDO:equivalentTo", source="DOID:0060282"}
xref: SCTID:314270008 {source="MONDO:kboom-pr-0.95/0.75/1.81", source="MONDO:equivalentTo", source="DOID:0060282"}
is_a: MONDO:0004860 {source="DOID:0060282"} ! vitreous disease
is_a: MONDO:0020225 {source="Orphanet:91495"} ! syndromic cataract
is_a: MONDO:0020247 {source="Orphanet:91495"} ! congenital vitreoretinal dysplasia
property_value: closeMatch http://identifiers.org/snomedct/44647001
property_value: closeMatch http://identifiers.org/snomedct/69927002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857299
property_value: exactMatch DOID:0060282
property_value: exactMatch http://identifiers.org/mesh/D054514
property_value: exactMatch http://identifiers.org/snomedct/314270008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266568
property_value: exactMatch Orphanet:91495

[Term]
id: MONDO:0019632
name: Lyme disease
def: "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." [Orphanet:91546]
subset: ordo_disease {source="Orphanet:91546"}
synonym: "Bannwarth syndrome" EXACT [DOID:11729]
synonym: "Bannworth's syndrome" EXACT [DOID:11729]
synonym: "Borrelia" EXACT [NCIT:C45161]
synonym: "Borrelia burgdorferi infection" EXACT [NCIT:C45161]
synonym: "Borreliella burgdorferi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Borreliella burgdorferi disease or disorder" EXACT []
synonym: "Borreliella burgdorferi infectious disease" EXACT []
synonym: "Lyme borreliosis" EXACT [CSP2005:0368-3340, DOID:11729, Orphanet:91546]
synonym: "Lyme disease" EXACT [NCIT:C45161]
synonym: "Lyme neuroborreliosis" EXACT [DOID:11729]
synonym: "neuroborreliosis" EXACT [DOID:11729]
synonym: "neurological Lyme disease" EXACT [DOID:11729]
xref: COHD:440638 {source="MONDO:equivalentTo"}
xref: DOID:11729 {source="MONDO:equivalentTo"}
xref: EFO:0008510 {source="MONDO:equivalentTo"}
xref: GARD:0012073 {source="MONDO:equivalentTo"}
xref: ICD10:A69.2 {source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"}
xref: ICD10:A69.20 {source="DOID:11729"}
xref: ICD9:088.81 {source="DOID:11729"}
xref: MedDRA:10025169 {source="ORDO:91546/e", source="Orphanet:91546"}
xref: MESH:D008193 {source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"}
xref: NCIT:C45161 {source="MONDO:equivalentTo", source="DOID:11729", source="MONDO:kboom-pr-1.00/0.91/27.41"}
xref: Orphanet:91546 {source="MONDO:equivalentTo"}
xref: SCTID:48982009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.75/0.43", source="DOID:11729"}
xref: UMLS:C0024198 {source="NCIT:C45161", source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"}
is_a: MONDO:0000314 {source="DOID:11729"} ! primary bacterial infectious disease
is_a: MONDO:0016104 {source="Orphanet:91546"} ! infectious disease with peripheral neuropathy
is_a: MONDO:0021839 ! spirochaetales infections
is_a: MONDO:0025294 ! tick-borne infectious disease
property_value: closeMatch http://identifiers.org/mesh/D020852
property_value: closeMatch http://identifiers.org/snomedct/154376000
property_value: closeMatch http://identifiers.org/snomedct/23502006
property_value: closeMatch http://identifiers.org/snomedct/240672009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0752235
property_value: exactMatch DOID:11729
property_value: exactMatch http://identifiers.org/meddra/10025169
property_value: exactMatch http://identifiers.org/mesh/D008193
property_value: exactMatch http://identifiers.org/snomedct/48982009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024198
property_value: exactMatch NCIT:C45161
property_value: exactMatch Orphanet:91546

[Term]
id: MONDO:0019633
name: relapsing fever
def: "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex." [Orphanet:91547]
subset: ordo_disease {source="Orphanet:91547"}
xref: COHD:440637 {source="MONDO:equivalentTo"}
xref: DOID:13034 {source="MONDO:equivalentTo"}
xref: ICD10:A68 {source="MONDO:equivalentTo", source="DOID:13034"}
xref: ICD10:A68.0 {source="ORDO:91547/btnt", source="MONDO:superClassOf", source="Orphanet:91547"}
xref: ICD10:A68.1 {source="ORDO:91547/btnt", source="MONDO:superClassOf", source="Orphanet:91547"}
xref: ICD10:A68.9 {source="ORDO:91547/btnt", source="DOID:13034", source="Orphanet:91547"}
xref: ICD9:087 {source="DOID:13034"}
xref: ICD9:087.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:13034"}
xref: MedDRA:10038300 {source="ORDO:91547/e", source="Orphanet:91547"}
xref: MESH:D012061 {source="MONDO:equivalentTo", source="ORDO:91547/e", source="DOID:13034", source="MONDO:ontobio", source="Orphanet:91547"}
xref: Orphanet:91547 {source="MONDO:equivalentTo"}
xref: SCTID:420079008 {source="MONDO:equivalentTo", source="DOID:13034", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0035021 {source="MONDO:equivalentTo", source="ORDO:91547/e", source="DOID:13034", source="Orphanet:91547"}
is_a: MONDO:0000314 {source="DOID:13034"} ! primary bacterial infectious disease
is_a: MONDO:0006681 ! Borrelia infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/186820006
property_value: closeMatch http://identifiers.org/snomedct/186822003
property_value: closeMatch http://identifiers.org/snomedct/187374004
property_value: closeMatch http://identifiers.org/snomedct/46107006
property_value: exactMatch DOID:13034
property_value: exactMatch http://identifiers.org/meddra/10038300
property_value: exactMatch http://identifiers.org/mesh/D012061
property_value: exactMatch http://identifiers.org/snomedct/420079008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035021
property_value: exactMatch Orphanet:91547

[Term]
id: MONDO:0019634
name: familial nasal acilia
def: "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." [Orphanet:922]
subset: gard_rare {source="GARD:0002254"}
subset: ordo_disease {source="Orphanet:922"}
xref: GARD:0002254 {source="MONDO:equivalentTo"}
xref: ICD10:Q30.8 {source="Orphanet:922", source="ORDO:922/attributed", source="ORDO:922/ntbt"}
xref: Orphanet:922 {source="MONDO:equivalentTo"}
xref: SCTID:763532008 {source="MONDO:equivalentTo"}
xref: UMLS:CN206502 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018751 {source="Orphanet:922"} ! genetic otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/snomedct/763532008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206502
property_value: exactMatch Orphanet:922
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia xsd:anyURI {source="GARD:0002254"}

[Term]
id: MONDO:0019635
name: idiopathic achalasia
def: "Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition." [Orphanet:930]
subset: ordo_disease {source="Orphanet:930"}
synonym: "achalasia cardia" EXACT [Orphanet:930]
synonym: "idiopathic achalasia of esophagus" EXACT [Orphanet:930]
synonym: "primary achalasia" EXACT [Orphanet:930]
xref: GARD:0005708 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:K22.0 {source="Orphanet:930", source="ORDO:930/e"}
xref: MedDRA:10036669 {source="Orphanet:930", source="ORDO:930/e"}
xref: Orphanet:930 {source="MONDO:equivalentTo"}
xref: SCTID:715192004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.66/0.10"}
xref: UMLS:C0859976 {source="Orphanet:930", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94", source="ORDO:930/e"}
xref: UMLS:C1860213 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015111 {source="Orphanet:930"} ! gastroesophageal disease
property_value: exactMatch http://identifiers.org/meddra/10036669
property_value: exactMatch http://identifiers.org/mesh/C536011
property_value: exactMatch http://identifiers.org/snomedct/715192004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0859976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1860213
property_value: exactMatch Orphanet:930

[Term]
id: MONDO:0019636
name: renal agenesis, unilateral
def: "Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter." [Orphanet:93100]
subset: ordo_clinical_subtype {source="Orphanet:93100"}
synonym: "congenital single kidney" EXACT [NCIT:C101220]
synonym: "congenital solitary kidney" EXACT [NCIT:C101220]
synonym: "unilateral renal agenesis" EXACT [NCIT:C101220]
xref: ICD10:Q60.0 {source="ORDO:93100/e", source="Orphanet:93100", source="ORDO:93100/specific", source="MONDO:equivalentTo"}
xref: MedDRA:10053624 {source="ORDO:93100/e", source="Orphanet:93100"}
xref: NCIT:C101220 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"}
xref: Orphanet:93100 {source="MONDO:equivalentTo"}
xref: UMLS:C0266294 {source="ORDO:93100/e", source="Orphanet:93100", source="MONDO:equivalentTo", source="NCIT:C101220"}
is_a: MONDO:0018470 {source="NCIT:C101220", source="Orphanet:93100"} ! renal agenesis (disease)
property_value: exactMatch http://identifiers.org/meddra/10053624
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266294
property_value: exactMatch NCIT:C101220
property_value: exactMatch Orphanet:93100

[Term]
id: MONDO:0019637
name: renal hypoplasia (disease)
def: "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." [Orphanet:93101]
subset: ordo_morphological_anomaly {source="Orphanet:93101"}
synonym: "renal hypoplasia" EXACT [MONDO:ambiguous]
xref: DOID:0080204 {source="MONDO:equivalentTo"}
xref: HP:0000089 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q60.3 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101", source="MONDO:superClassOf"}
xref: ICD10:Q60.4 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101", source="MONDO:superClassOf"}
xref: ICD10:Q60.5 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101"}
xref: MedDRA:10049102 {source="ORDO:93101/e", source="Orphanet:93101"}
xref: Orphanet:93101 {source="MONDO:equivalentTo", source="DOID:0080204"}
xref: SCTID:32659003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.25"}
is_a: MONDO:0019720 {source="Orphanet:93101"} ! non-syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266295
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2608080
property_value: exactMatch DOID:0080204
property_value: exactMatch http://identifiers.org/meddra/10049102
property_value: exactMatch http://identifiers.org/snomedct/32659003
property_value: exactMatch Orphanet:93101

[Term]
id: MONDO:0019638
name: renal dysplasia (disease)
def: "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." [Orphanet:93108]
subset: ordo_morphological_anomaly {source="Orphanet:93108"}
synonym: "renal dysplasia" EXACT [MONDO:ambiguous]
xref: COHD:201111 {source="MONDO:equivalentTo"}
xref: HP:0000110 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q61.4 {source="ORDO:93108/e", source="Orphanet:93108", source="ORDO:93108/specific"}
xref: Orphanet:93108 {source="MONDO:equivalentTo"}
is_a: MONDO:0019720 {source="Orphanet:93108"} ! non-syndromic renal or urinary tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3536714
property_value: exactMatch Orphanet:93108

[Term]
id: MONDO:0019639
name: congenital megacalycosis
def: "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." [Orphanet:93109]
subset: ordo_morphological_anomaly {source="Orphanet:93109"}
xref: ICD10:Q63.8 {source="ORDO:93109/ntbt", source="Orphanet:93109"}
xref: ICD9:753.3 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93109 {source="MONDO:equivalentTo"}
xref: SCTID:85901000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.89"}
is_a: MONDO:0019720 {source="Orphanet:93109"} ! non-syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/85901000
property_value: exactMatch Orphanet:93109

[Term]
id: MONDO:0019640
name: posterior urethral valve
def: "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." [Orphanet:93110]
subset: ordo_morphological_anomaly {source="Orphanet:93110"}
synonym: "congenital posterior urethral valves" EXACT [NCIT:C99021]
synonym: "Posterior urethral valves" RELATED [GARD:0007439]
synonym: "PUV" EXACT [Orphanet:93110]
xref: GARD:0007439 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q64.2 {source="Orphanet:93110", source="ORDO:93110/attributed", source="ORDO:93110/ntbt"}
xref: ICD9:753.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10036369 {source="Orphanet:93110", source="ORDO:93110/e"}
xref: NCIT:C99021 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:93110 {source="MONDO:equivalentTo"}
xref: SCTID:253900005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.40"}
xref: UMLS:C0238506 {source="Orphanet:93110", source="NCIT:C99021", source="MONDO:equivalentTo", source="ORDO:93110/e"}
xref: UMLS:CN227669 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018559 {source="Orphanet:93110"} ! fetal lower urinary tract obstruction
property_value: exactMatch http://identifiers.org/meddra/10036369
property_value: exactMatch http://identifiers.org/snomedct/253900005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0542520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227669
property_value: exactMatch NCIT:C99021
property_value: exactMatch Orphanet:93110

[Term]
id: MONDO:0019641
name: pauci-immune glomerulonephritis
def: "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms)." [Orphanet:93126]
subset: ordo_disease {source="Orphanet:93126"}
xref: ICD10:N05.7 {source="ORDO:93126/ntbt", source="Orphanet:93126"}
xref: Orphanet:93126 {source="MONDO:equivalentTo"}
is_a: MONDO:0002462 {source="MONDOLEX:0019641"} ! glomerulonephritis (disease)
is_a: MONDO:0019724 {source="Orphanet:93126"} ! secondary glomerular disease
property_value: exactMatch Orphanet:93126

[Term]
id: MONDO:0019642
name: vitamin D-dependent rickets, type 2
def: "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." [Orphanet:93160]
comment: Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A
subset: ordo_disease {source="Orphanet:93160"}
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor" EXACT [NCIT:C131077]
synonym: "hereditary vitamin D-resistant rickets" EXACT [Orphanet:93160]
synonym: "HVDRR" EXACT [Orphanet:93160]
synonym: "hypocalcemic vitamin D-resistant rickets" EXACT [Orphanet:93160]
synonym: "VDDR II" EXACT [Orphanet:93160]
synonym: "VDDR2" EXACT [NCIT:C131077]
synonym: "VDRR II" EXACT [Orphanet:93160]
synonym: "vitamin D dependent rickets 2" EXACT [NCIT:C131077]
synonym: "vitamin D receptor deficiency" EXACT [NCIT:C131077]
synonym: "vitamin D-dependent rickets type II" EXACT [Orphanet:93160]
synonym: "vitamin D-dependent rickets, type 2" EXACT [MONDO:cjm]
synonym: "vitamin D-resistant rickets type II" EXACT [Orphanet:93160]
xref: ICD10:E83.3 {source="ORDO:93160/attributed", source="ORDO:93160/ntbt", source="MONDO:relatedTo", source="Orphanet:93160"}
xref: NCIT:C131077 {source="MONDO:equivalentTo"}
xref: Orphanet:93160 {source="MONDO:equivalentTo"}
xref: SCTID:72831007 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"}
is_a: MONDO:0017323 {source="Orphanet:93160"} ! hypocalcemic rickets
is_a: MONDO:0024299 {source="MONDO:cjm", source="MONDOLEX:0019642", source="linkedlifedata"} ! vitamin D-dependent rickets
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3536983
property_value: exactMatch http://identifiers.org/snomedct/72831007
property_value: exactMatch NCIT:C131077
property_value: exactMatch Orphanet:93160

[Term]
id: MONDO:0019643
name: transient pseudohypoaldosteronism
def: "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." [Orphanet:93164]
subset: ordo_malformation_syndrome {source="Orphanet:93164"}
synonym: "TPHA" EXACT [Orphanet:93164]
xref: ICD10:N15.8 {source="Orphanet:93164", source="ORDO:93164/ntbt"}
xref: Orphanet:93164 {source="MONDO:equivalentTo"}
xref: SCTID:717263009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273962 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN776908 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018638 {source="MONDO:Redundant", source="Orphanet:93164", source="linkedlifedata"} ! pseudohypoaldosteronism
property_value: exactMatch http://identifiers.org/snomedct/717263009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776908
property_value: exactMatch Orphanet:93164

[Term]
id: MONDO:0019644
name: renal dysplasia, unilateral
def: "Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93172]
subset: ordo_clinical_subtype {source="Orphanet:93172"}
synonym: "unilateral renal dysplasia" EXACT [HP:0008718]
xref: HP:0008718 {source="MONDO:otherHierarchy"}
xref: ICD10:Q61.4 {source="ORDO:93172/attributed", source="ORDO:93172/ntbt", source="Orphanet:93172"}
xref: Orphanet:93172 {source="MONDO:equivalentTo"}
is_a: MONDO:0019638 {source="Orphanet:93172"} ! renal dysplasia (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431697
property_value: exactMatch Orphanet:93172

[Term]
id: MONDO:0019645
name: renal dysplasia, bilateral
def: "Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93173]
subset: ordo_clinical_subtype {source="Orphanet:93173"}
synonym: "bilateral renal dysplasia" EXACT [HP:0012582]
xref: HP:0012582 {source="MONDO:otherHierarchy"}
xref: ICD10:Q61.4 {source="ORDO:93173/attributed", source="ORDO:93173/ntbt", source="Orphanet:93173"}
xref: Orphanet:93173 {source="MONDO:equivalentTo"}
xref: SCTID:204950001 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
is_a: MONDO:0019638 {source="Orphanet:93173"} ! renal dysplasia (disease)
property_value: exactMatch http://identifiers.org/snomedct/204950001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431698
property_value: exactMatch Orphanet:93173

[Term]
id: MONDO:0019646
name: unilateral congenital megacalycosis
subset: ordo_clinical_subtype {source="Orphanet:93176"}
xref: ICD10:Q63.8 {source="Orphanet:93176", source="ORDO:93176/ntbt"}
xref: Orphanet:93176 {source="MONDO:equivalentTo"}
is_a: MONDO:0019639 {source="Orphanet:93176"} ! congenital megacalycosis
property_value: exactMatch Orphanet:93176

[Term]
id: MONDO:0019647
name: congenital bilateral megacalycosis
subset: ordo_clinical_subtype {source="Orphanet:93177"}
xref: ICD10:Q63.8 {source="Orphanet:93177", source="ORDO:93177/ntbt"}
xref: Orphanet:93177 {source="MONDO:equivalentTo"}
is_a: MONDO:0019639 {source="Orphanet:93177"} ! congenital megacalycosis
property_value: exactMatch Orphanet:93177

[Term]
id: MONDO:0019648
name: achondrogenesis
def: "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms)." [Orphanet:932]
subset: gard_rare {source="GARD:0002882"}
subset: ordo_disease {source="Orphanet:932"}
xref: DOID:0080043 {source="MONDO:equivalentTo"}
xref: GARD:0002882 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.0 {source="ORDO:932/e", source="ORDO:932/specific", source="Orphanet:932", source="MONDO:equivalentTo"}
xref: MedDRA:10066122 {source="ORDO:932/e", source="Orphanet:932"}
xref: MESH:C579878 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84527 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: OMIMPS:200600 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:932 {source="MONDO:equivalentTo"}
xref: SCTID:2391001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0001079 {source="ORDO:932/e", source="NCIT:C84527", source="Orphanet:932", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0080043", source="MESH:C579878"} ! osteochondrodysplasia
is_a: MONDO:0019694 {source="Orphanet:932"} ! spondylodysplastic dysplasia
property_value: exactMatch DOID:0080043
property_value: exactMatch http://identifiers.org/meddra/10066122
property_value: exactMatch http://identifiers.org/mesh/C579878
property_value: exactMatch http://identifiers.org/snomedct/2391001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001079
property_value: exactMatch NCIT:C84527
property_value: exactMatch Orphanet:932
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis xsd:anyURI {source="GARD:0002882"}

[Term]
id: MONDO:0019649
name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
subset: ordo_histopathological_subtype {source="Orphanet:93206"}
synonym: "idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93206]
xref: ICD10:N04.1 {source="ORDO:93206/attributed", source="ORDO:93206/ntbt", source="Orphanet:93206"}
xref: Orphanet:93206 {source="MONDO:equivalentTo"}
xref: UMLS:CN206521 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019067 {source="Orphanet:93206"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206521
property_value: exactMatch Orphanet:93206

[Term]
id: MONDO:0019650
name: idiopathic steroid-sensitive nephrotic syndrome with minimal change
subset: ordo_histopathological_subtype {source="Orphanet:93207"}
synonym: "steroid-sensitive MCNS" EXACT [Orphanet:93207]
xref: ICD10:N04.0 {source="ORDO:93207/attributed", source="ORDO:93207/ntbt", source="Orphanet:93207"}
xref: Orphanet:93207 {source="MONDO:equivalentTo"}
xref: UMLS:CN206522 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019067 {source="Orphanet:93207"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206522
property_value: exactMatch Orphanet:93207

[Term]
id: MONDO:0019651
name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
subset: ordo_histopathological_subtype {source="Orphanet:93209"}
xref: ICD10:N04.3 {source="ORDO:93209/attributed", source="ORDO:93209/ntbt", source="Orphanet:93209"}
xref: Orphanet:93209 {source="MONDO:equivalentTo"}
xref: UMLS:CN206523 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019067 {source="Orphanet:93209"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206523
property_value: exactMatch Orphanet:93209

[Term]
id: MONDO:0019652
name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
subset: ordo_histopathological_subtype {source="Orphanet:93214"}
xref: ICD10:N04.3 {source="ORDO:93214/attributed", source="ORDO:93214/ntbt", source="Orphanet:93214"}
xref: Orphanet:93214 {source="MONDO:equivalentTo"}
xref: UMLS:CN206525 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 {source="MONDOLEX:0019652", source="Orphanet:93214"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206525
property_value: exactMatch Orphanet:93214

[Term]
id: MONDO:0019653
name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
subset: ordo_histopathological_subtype {source="Orphanet:93216"}
xref: ICD10:N04.0 {source="ORDO:93216/attributed", source="ORDO:93216/ntbt", source="Orphanet:93216"}
xref: Orphanet:93216 {source="MONDO:equivalentTo"}
xref: UMLS:CN206526 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 {source="MONDOLEX:0019653", source="Orphanet:93216"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206526
property_value: exactMatch Orphanet:93216

[Term]
id: MONDO:0019654
name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
subset: ordo_histopathological_subtype {source="Orphanet:93217"}
xref: ICD10:N04.8 {source="ORDO:93217/attributed", source="ORDO:93217/ntbt", source="Orphanet:93217"}
xref: Orphanet:93217 {source="MONDO:equivalentTo"}
xref: UMLS:CN206527 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019006 {source="MONDOLEX:0019654", source="Orphanet:93217"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206527
property_value: exactMatch Orphanet:93217

[Term]
id: MONDO:0019655
name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
subset: ordo_histopathological_subtype {source="Orphanet:93218"}
synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93218]
xref: ICD10:N04.1 {source="ORDO:93218/attributed", source="ORDO:93218/ntbt", source="Orphanet:93218"}
xref: Orphanet:93218 {source="MONDO:equivalentTo"}
xref: UMLS:CN206528 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206528
property_value: exactMatch Orphanet:93218

[Term]
id: MONDO:0019656
name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
subset: ordo_histopathological_subtype {source="Orphanet:93220"}
xref: ICD10:N04.8 {source="Orphanet:93220", source="ORDO:93220/attributed", source="ORDO:93220/ntbt"}
xref: Orphanet:93220 {source="MONDO:equivalentTo"}
xref: UMLS:CN206529 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019401 {source="Orphanet:93220"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206529
property_value: exactMatch Orphanet:93220

[Term]
id: MONDO:0019657
name: sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
subset: ordo_histopathological_subtype {source="Orphanet:93221"}
xref: ICD10:N04.0 {source="Orphanet:93221", source="ORDO:93221/attributed", source="ORDO:93221/ntbt"}
xref: Orphanet:93221 {source="MONDO:equivalentTo"}
xref: UMLS:CN206530 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019401 {source="Orphanet:93221"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206530
property_value: exactMatch Orphanet:93221

[Term]
id: MONDO:0019658
name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
subset: ordo_histopathological_subtype {source="Orphanet:93222"}
xref: ICD10:N04.3 {source="Orphanet:93222", source="ORDO:93222/attributed", source="ORDO:93222/ntbt"}
xref: Orphanet:93222 {source="MONDO:equivalentTo"}
xref: UMLS:CN206531 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019401 {source="Orphanet:93222"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206531
property_value: exactMatch Orphanet:93222

[Term]
id: MONDO:0019659
name: Pfeiffer syndrome type 1
def: "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." [Orphanet:93258]
subset: ordo_clinical_subtype {source="Orphanet:93258"}
synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258]
xref: ICD10:Q87.0 {source="ORDO:93258/attributed", source="ORDO:93258/ntbt", source="Orphanet:93258"}
xref: Orphanet:93258 {source="MONDO:equivalentTo"}
xref: UMLS:CN206533 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206533
property_value: exactMatch Orphanet:93258

[Term]
id: MONDO:0019660
name: Pfeiffer syndrome type 2
def: "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." [Orphanet:93259]
subset: ordo_clinical_subtype {source="Orphanet:93259"}
xref: ICD10:Q87.0 {source="ORDO:93259/attributed", source="ORDO:93259/ntbt", source="Orphanet:93259"}
xref: Orphanet:93259 {source="MONDO:equivalentTo"}
xref: UMLS:CN206534 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206534
property_value: exactMatch Orphanet:93259

[Term]
id: MONDO:0019661
name: Pfeiffer syndrome type 3
def: "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." [Orphanet:93260]
subset: ordo_clinical_subtype {source="Orphanet:93260"}
xref: ICD10:Q87.0 {source="ORDO:93260/attributed", source="ORDO:93260/ntbt", source="Orphanet:93260"}
xref: Orphanet:93260 {source="MONDO:equivalentTo"}
xref: UMLS:CN206535 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206535
property_value: exactMatch Orphanet:93260

[Term]
id: MONDO:0019662
name: short rib-polydactyly syndrome, Majewski type
subset: ordo_malformation_syndrome {source="Orphanet:93269"}
synonym: "polydactyly with neonatal chondrodystrophy type 2" RELATED [GARD:0004833]
synonym: "short rib-polydactyly syndrome Majewski type" RELATED [GARD:0004833]
synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269]
synonym: "SRPS type 2" RELATED [GARD:0004833]
xref: GARD:0004833 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.2 {source="ORDO:93269/attributed", source="ORDO:93269/ntbt", source="Orphanet:93269"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93269 {source="MONDO:equivalentTo"}
xref: SCTID:72922008 {source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"}
is_a: MONDO:0015461 {source="MONDOLEX:0019662", source="Orphanet:93269", source="linkedlifedata"} ! short rib-polydactyly syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024507
property_value: exactMatch http://identifiers.org/snomedct/72922008
property_value: exactMatch Orphanet:93269

[Term]
id: MONDO:0019663
name: short rib-polydactyly syndrome, Saldino-Noonan type
def: "Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems." [Orphanet:93270]
subset: ordo_malformation_syndrome {source="Orphanet:93270"}
synonym: "polydactyly with neonatal chondrodystrophy type 1" RELATED [GARD:0004834]
synonym: "Saldino-Noonan syndrome" EXACT [MONDO:0000353]
synonym: "short rib-polydactyly syndrome Saldino-Noonan type" RELATED [GARD:0004834]
synonym: "short rib-polydactyly syndrome type 1" EXACT [Orphanet:93270]
synonym: "SRPS type 1" RELATED [GARD:0004834]
synonym: "type I short rib polydactyly syndrome" EXACT [DOID:0050549]
xref: DOID:0050549 {source="MONDO:equivalentTo"}
xref: GARD:0004834 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.2 {source="ORDO:93270/attributed", source="ORDO:93270/ntbt", source="Orphanet:93270"}
xref: Orphanet:93270 {source="MONDO:equivalentTo"}
xref: SCTID:27330009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.42/0.22"}
is_a: MONDO:0015461 {source="MONDOLEX:0019663", source="Orphanet:93270"} ! short rib-polydactyly syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036069
property_value: exactMatch DOID:0050549
property_value: exactMatch http://identifiers.org/snomedct/27330009
property_value: exactMatch Orphanet:93270

[Term]
id: MONDO:0019664
name: short rib-polydactyly syndrome, Verma-Naumoff type
def: "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome (see this term), characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia (see these terms), anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." [Orphanet:93271]
subset: ordo_malformation_syndrome {source="Orphanet:93271"}
synonym: "polydactyly with neonatal chondrodystrophy type III" RELATED [GARD:0004835]
synonym: "short rib polydactyly syndrome Verma Naumoff type" RELATED [GARD:0004835]
synonym: "short rib-polydactyly syndrome type 3" EXACT [GARD:0004835, Orphanet:93271]
synonym: "short rib-polydactyly syndrome type III" RELATED [GARD:0004835]
synonym: "SRPS type 3" RELATED [GARD:0004835]
synonym: "Verma Naumoff syndrome" RELATED [GARD:0004835]
xref: GARD:0004835 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q77.2 {source="ORDO:93271/attributed", source="ORDO:93271/ntbt", source="Orphanet:93271"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537602 {source="MONDO:equivalentTo", source="ORDO:93271/e", source="Orphanet:93271"}
xref: Orphanet:93271 {source="MONDO:equivalentTo"}
xref: SCTID:254051008 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"}
xref: UMLS:C0432197 {source="MONDO:equivalentTo", source="ORDO:93271/e", source="Orphanet:93271"}
is_a: MONDO:0015246 {source="Orphanet:93271"} ! syndromic anorectal malformation
is_a: MONDO:0015461 {source="MESH:C537602", source="MONDOLEX:0019664", source="Orphanet:93271", source="linkedlifedata"} ! short rib-polydactyly syndrome
property_value: exactMatch http://identifiers.org/mesh/C537602
property_value: exactMatch http://identifiers.org/snomedct/254051008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432197
property_value: exactMatch Orphanet:93271

[Term]
id: MONDO:0019665
name: monostotic fibrous dysplasia (disease)
def: "fibrous dysplasia of bone involving only one bone." [MESH:D005358]
subset: ordo_clinical_subtype {source="Orphanet:93277"}
synonym: "Jaffe-Lichtenstein disease" EXACT [Orphanet:93277]
synonym: "monostotic fibrous dysplasia" EXACT [MONDO:ambiguous]
synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971]
xref: HP:0010736 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:M85.0 {source="Orphanet:93277"}
xref: ICD10:Q78.1 {source="ORDO:93277/attributed", source="ORDO:93277/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D005358 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C53971 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.10"}
xref: Orphanet:93277 {source="MONDO:equivalentTo"}
xref: SCTID:89859004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0016064 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971"}
is_a: MONDO:0016640 {source="MESH:D005358", source="Orphanet:93277", source="linkedlifedata"} ! fibrous dysplasia of bone
property_value: exactMatch http://identifiers.org/mesh/D005358
property_value: exactMatch http://identifiers.org/snomedct/89859004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016064
property_value: exactMatch NCIT:C53971
property_value: exactMatch Orphanet:93277

[Term]
id: MONDO:0019666
name: spondyloepimetaphyseal dysplasia, PAPSS2 type
def: "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [Orphanet:93282]
subset: ordo_disease {source="Orphanet:93282"}
synonym: "BCYM4" RELATED [MONDO:Lexical, OMIM:612847]
synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847]
synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4" RELATED [OMIM:612847]
synonym: "SEMD, Pakistani type" RELATED [OMIM:612847]
synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847]
synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812]
synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282]
xref: DOID:0050812 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"}
xref: OMIM:612847 {source="MONDO:subClassOf", source="ORDO:93282/ntbt", source="MONDO:equivalentTo", source="DOID:0050812", source="Orphanet:93282"}
xref: Orphanet:93282 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:612847"}
xref: SCTID:719172003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282", source="linkedlifedata"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019688 {source="Orphanet:93282"} ! sulfation-related bone disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748515
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748516
property_value: exactMatch DOID:0050812
property_value: exactMatch http://identifiers.org/omim/612847
property_value: exactMatch http://identifiers.org/snomedct/719172003
property_value: exactMatch Orphanet:93282

[Term]
id: MONDO:0019667
name: spondyloepiphyseal dysplasia tarda
def: "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." [Orphanet:93284]
subset: ordo_disease {source="Orphanet:93284"}
xref: ICD10:Q77.7 {source="Orphanet:93284", source="ORDO:93284/attributed", source="ORDO:93284/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93284 {source="MONDO:equivalentTo"}
xref: SCTID:51952004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.32"}
is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia
property_value: exactMatch http://identifiers.org/snomedct/51952004
property_value: exactMatch Orphanet:93284

[Term]
id: MONDO:0019668
name: adenoma of pancreas
subset: ordo_disease {source="Orphanet:93292"}
synonym: "adenoma of the pancreas" RELATED [Orphanet:93292]
synonym: "pancreatic adenoma" EXACT [Orphanet:93292]
xref: GARD:0004204 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D13.6 {source="ORDO:93292/ntbt", source="MONDO:relatedTo", source="Orphanet:93292"}
xref: MedDRA:10058902 {source="ORDO:93292/e", source="Orphanet:93292"}
xref: MESH:C538110 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:93292/e", source="Orphanet:93292"}
xref: Orphanet:93292 {source="MONDO:equivalentTo"}
xref: SCTID:208061000119101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1142432 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="ORDO:93292/e", source="Orphanet:93292"}
xref: UMLS:C4076724 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021040 {source="Orphanet:93292"} ! pancreatic neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10058902
property_value: exactMatch http://identifiers.org/mesh/C538110
property_value: exactMatch http://identifiers.org/snomedct/208061000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1142432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4076724
property_value: exactMatch Orphanet:93292

[Term]
id: MONDO:0019669
name: hypochondrogenesis
subset: ordo_clinical_subtype {source="Orphanet:93297"}
xref: DOID:0080044 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93297", source="ORDO:93297/inclusion", source="ORDO:93297/ntbt"}
xref: Orphanet:93297 {source="MONDO:equivalentTo"}
is_a: MONDO:0019648 {source="Orphanet:93297"} ! achondrogenesis
is_a: MONDO:0019686 {source="Orphanet:93297"} ! type 2 collagen-related bone disorder
property_value: exactMatch DOID:0080044
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0542428
property_value: exactMatch Orphanet:93297

[Term]
id: MONDO:0019670
name: ulnar hemimelia
def: "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." [Orphanet:93320]
subset: ordo_morphological_anomaly {source="Orphanet:93320"}
synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320]
synonym: "ulnar clubhand" EXACT [Orphanet:93320]
synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320]
xref: ICD10:Q71.5 {source="ORDO:93320/e", source="Orphanet:93320", source="ORDO:93320/specific"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93320 {source="MONDO:equivalentTo"}
xref: SCTID:21893008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.46/0.20"}
is_a: MONDO:0016240 {source="Orphanet:93320"} ! hemimelia
property_value: exactMatch http://identifiers.org/snomedct/21893008
property_value: exactMatch Orphanet:93320

[Term]
id: MONDO:0019671
name: radial hemimelia
def: "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." [Orphanet:93321]
subset: ordo_morphological_anomaly {source="Orphanet:93321"}
synonym: "congenital longitudinal deficiency of the radius" EXACT [Orphanet:93321]
synonym: "radial clubhand" EXACT [Orphanet:93321]
synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321]
synonym: "radial ray agenesis" EXACT [Orphanet:93321]
xref: GARD:0000225 {source="MONDO:equivalentTo"}
xref: ICD10:Q71.4 {source="ORDO:93321/e", source="ORDO:93321/specific", source="Orphanet:93321"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93321 {source="MONDO:equivalentTo"}
xref: SCTID:48008009 {source="MONDO:kboom-pr-0.75/0.46/0.19", source="MONDO:equivalentTo"}
is_a: MONDO:0016240 {source="Orphanet:93321"} ! hemimelia
property_value: exactMatch http://identifiers.org/snomedct/48008009
property_value: exactMatch Orphanet:93321

[Term]
id: MONDO:0019672
name: fibular hemimelia
def: "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." [Orphanet:93323]
subset: ordo_morphological_anomaly {source="Orphanet:93323"}
synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323]
synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323]
xref: ICD10:Q72.6 {source="ORDO:93323/e", source="ORDO:93323/specific", source="Orphanet:93323"}
xref: Orphanet:93323 {source="MONDO:equivalentTo"}
is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia
property_value: exactMatch Orphanet:93323

[Term]
id: MONDO:0019673
name: postaxial polydactyly type A (disease)
subset: ordo_morphological_anomaly {source="Orphanet:93334"}
synonym: "PAPA" EXACT [MONDO:cjm]
synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous]
xref: HP:0005696 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q69.0 {source="Orphanet:93334", source="ORDO:93334/attributed", source="ORDO:93334/ntbt"}
xref: Orphanet:93334 {source="MONDO:equivalentTo"}
xref: SCTID:715704001 {source="MONDO:kboom-pr-0.88/0.75/0.13", source="MONDO:equivalentTo"}
xref: UMLS:C3887487 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93334"}
is_a: MONDO:0020927 ! postaxial polydactyly
relationship: excluded_subClassOf MONDO:0017426 {source="Orphanet:93334", source="linkedlifedata"} ! postaxial polydactyly of fingers
property_value: exactMatch http://identifiers.org/snomedct/715704001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887487
property_value: exactMatch Orphanet:93334

[Term]
id: MONDO:0019674
name: postaxial polydactyly type B
subset: ordo_morphological_anomaly {source="Orphanet:93335"}
synonym: "PAPB" EXACT [MONDO:cjm]
xref: ICD10:Q69.0 {source="ORDO:93335/attributed", source="ORDO:93335/ntbt", source="Orphanet:93335"}
xref: Orphanet:93335 {source="MONDO:equivalentTo"}
xref: SCTID:715707008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.13"}
xref: UMLS:C1868120 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93335"}
is_a: MONDO:0020927 ! postaxial polydactyly
relationship: excluded_subClassOf MONDO:0017426 {source="Orphanet:93335", source="linkedlifedata"} ! postaxial polydactyly of fingers
property_value: exactMatch http://identifiers.org/snomedct/715707008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868120
property_value: exactMatch Orphanet:93335

[Term]
id: MONDO:0019675
name: spondyloepimetaphyseal dysplasia with joint laxity
def: "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." [PMID:12784311]
subset: gard_rare
subset: ordo_disease {source="Orphanet:93359"}
synonym: "SEMD-JL" EXACT [Orphanet:93359]
synonym: "SEMDJL" RELATED [GARD:0004982]
synonym: "SEMDJL1" EXACT [Orphanet:93359]
synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" EXACT [Orphanet:93359]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:93359]
xref: DC:0000688 {source="MONDO:equivalentTo"}
xref: GARD:0004982 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.7 {source="ORDO:93359/attributed", source="ORDO:93359/ntbt", source="Orphanet:93359"}
xref: ICD9:719.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C562968 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:271640 {source="MONDO:equivalentTo"}
xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentTo"}
xref: SCTID:254100000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0016761 {source="Orphanet:93359"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0017742 {source="Orphanet:93359"} ! disorder of O-xylosylglycan synthesis
relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:93359"} ! congenital disorder of glycosylation-related bone disorder
relationship: excluded_subClassOf MONDO:0018293 {source="Orphanet:93359"} ! congenital disorder of glycosylation with skin involvement
property_value: exactMatch http://identifiers.org/mesh/C562968
property_value: exactMatch http://identifiers.org/snomedct/254100000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432243
property_value: exactMatch Orphanet:93359

[Term]
id: MONDO:0019676
name: brachydactyly type B
def: "Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails." [Orphanet:93383]
subset: ordo_malformation_syndrome {source="Orphanet:93383"}
xref: GARD:0000985 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q73.8 {source="Orphanet:93383", source="ORDO:93383/attributed", source="ORDO:93383/ntbt"}
xref: Orphanet:93383 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:93383", source="Orphanet:93383/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300267
property_value: exactMatch Orphanet:93383

[Term]
id: MONDO:0019677
name: brachydactyly type E
def: "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." [Orphanet:93387]
subset: ordo_malformation_syndrome {source="Orphanet:93387"}
synonym: "type E brachydactyly" RELATED [GARD:0000987]
xref: GARD:0000987 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q73.8 {source="Orphanet:93387", source="ORDO:93387/attributed", source="ORDO:93387/ntbt"}
xref: Orphanet:93387 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:93387", source="Orphanet:93387/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265312
property_value: exactMatch Orphanet:93387

[Term]
id: MONDO:0019678
name: brachydactyly type A5
def: "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." [Orphanet:93389]
subset: gard_rare {source="GARD:0000982"}
subset: ordo_malformation_syndrome {source="Orphanet:93389"}
synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GARD:0000982]
synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982]
synonym: "brachydactyly with absence of middle phalanges and hypoplastic nails" RELATED [GARD:0000982]
xref: GARD:0000982 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:93389", source="ORDO:93389/attributed", source="ORDO:93389/ntbt"}
xref: MESH:C537091 {source="MONDO:equivalentTo"}
xref: Orphanet:93389 {source="MONDO:equivalentTo"}
xref: SCTID:720570007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1862138 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93389"}
is_a: MONDO:0019066 {source="Orphanet:93389", source="Orphanet:93389/inferred"} ! syndrome with brachydactyly
property_value: closeMatch http://identifiers.org/omim/112900
property_value: exactMatch http://identifiers.org/mesh/C537091
property_value: exactMatch http://identifiers.org/snomedct/720570007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1862138
property_value: exactMatch Orphanet:93389
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 xsd:anyURI {source="GARD:0000982"}

[Term]
id: MONDO:0019679
name: brachydactyly type A7
def: "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." [Orphanet:93397]
subset: gard_rare {source="GARD:0000984"}
subset: ordo_malformation_syndrome {source="Orphanet:93397"}
synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984]
synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397]
xref: GARD:0000984 {source="MONDO:equivalentTo"}
xref: ICD10:Q73.8 {source="Orphanet:93397", source="ORDO:93397/attributed", source="ORDO:93397/ntbt"}
xref: Orphanet:93397 {source="MONDO:equivalentTo"}
xref: SCTID:720571006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN206603 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019066 {source="Orphanet:93397", source="Orphanet:93397/inferred"} ! syndrome with brachydactyly
property_value: exactMatch http://identifiers.org/snomedct/720571006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206603
property_value: exactMatch Orphanet:93397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 xsd:anyURI {source="GARD:0000984"}

[Term]
id: MONDO:0019680
name: genochondromatosis type 2
def: "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." [Orphanet:93398]
subset: ordo_disease {source="Orphanet:93398"}
xref: Orphanet:93398 {source="MONDO:equivalentTo"}
xref: SCTID:725904009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511481 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206604 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007653 ! genochondromatosis
is_a: MONDO:0019708 {source="Orphanet:93398"} ! primary bone dysplasia with disorganized development of skeletal components
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/725904009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206604
property_value: exactMatch Orphanet:93398

[Term]
id: MONDO:0019681
name: juvenile sialidosis type 2
subset: ordo_clinical_subtype {source="Orphanet:93399"}
synonym: "dysmorphic sialidosis, juvenile form" EXACT []
xref: ICD10:E77.1 {source="Orphanet:93399", source="ORDO:93399/attributed", source="ORDO:93399/ntbt"}
xref: Orphanet:93399 {source="MONDO:equivalentTo"}
xref: SCTID:111383007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268229 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN206605 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009738 {source="MONDOLEX:0019681", source="Orphanet:93399", source="linkedlifedata"} ! sialidosis type 2
property_value: exactMatch http://identifiers.org/snomedct/111383007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206605
property_value: exactMatch Orphanet:93399

[Term]
id: MONDO:0019682
name: congenital sialidosis type 2
subset: ordo_clinical_subtype {source="Orphanet:93400"}
xref: ICD10:E77.1 {source="Orphanet:93400", source="ORDO:93400/attributed", source="ORDO:93400/ntbt"}
xref: Orphanet:93400 {source="MONDO:equivalentTo"}
is_a: MONDO:0009738 {source="MONDOLEX:0019682", source="Orphanet:93400"} ! sialidosis type 2
property_value: exactMatch Orphanet:93400

[Term]
id: MONDO:0019683
name: syndactyly type 2
def: "Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly." [Orphanet:93403]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:93403"}
synonym: "SPD" RELATED [GARD:0005087]
synonym: "synpolydactyly" EXACT [Orphanet:93403]
xref: GARD:0005087 {source="MONDO:equivalentTo"}
xref: ICD10:Q70.0 {source="ORDO:93403/nd", source="ORDO:93403/attributed", source="Orphanet:93403"}
xref: ICD10:Q70.2 {source="ORDO:93403/nd", source="ORDO:93403/attributed", source="Orphanet:93403"}
xref: Orphanet:93403 {source="MONDO:equivalentTo", source="GARD:0005087"}
xref: SCTID:715724002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.74/0.58"}
is_a: MONDO:0019530 {source="Orphanet:93403"} ! non-syndromic syndactyly
is_a: MONDO:0021651 {source="consider merging"} ! synpolydactyly
property_value: exactMatch http://identifiers.org/snomedct/715724002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2699746
property_value: exactMatch Orphanet:93403

[Term]
id: MONDO:0019684
name: obsolete rare bone disease
def: "Rare bone disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:93419"}
synonym: "rare bone disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:93419 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206613 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206613
property_value: exactMatch Orphanet:93419
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005381

[Term]
id: MONDO:0019685
name: FGFR3-related chondrodysplasia
subset: ordo_group_of_disorders {source="Orphanet:93420"}
xref: Orphanet:93420 {source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:93420"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch Orphanet:93420

[Term]
id: MONDO:0019686
name: type 2 collagen-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93421"}
xref: Orphanet:93421 {source="MONDO:equivalentTo"}
xref: UMLS:CN227672 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004603 ! collagenopathy
is_a: MONDO:0018238 {source="MONDO:Redundant", source="Orphanet:93421"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227672
property_value: exactMatch Orphanet:93421

[Term]
id: MONDO:0019687
name: type 11 collagen-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93422"}
xref: Orphanet:93422 {source="MONDO:equivalentTo"}
xref: UMLS:CN227673 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004603 ! collagenopathy
is_a: MONDO:0018238 {source="MONDO:Redundant", source="Orphanet:93422"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227673
property_value: exactMatch Orphanet:93422

[Term]
id: MONDO:0019688
name: sulfation-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93423"}
xref: Orphanet:93423 {source="MONDO:equivalentTo"}
xref: UMLS:CN227674 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:93423"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227674
property_value: exactMatch Orphanet:93423

[Term]
id: MONDO:0019689
name: perlecan-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93424"}
xref: Orphanet:93424 {source="MONDO:equivalentTo"}
xref: UMLS:CN227675 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018238 {source="Orphanet:93424"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227675
property_value: exactMatch Orphanet:93424

[Term]
id: MONDO:0019690
name: filamin-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93425"}
synonym: "bone filaminopathy" EXACT [Orphanet:93425]
xref: Orphanet:93425 {source="MONDO:equivalentTo"}
xref: UMLS:CN227676 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018238 {source="Orphanet:93425"} ! rare bone disease related to a common gene or pathway defect
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227676
property_value: exactMatch Orphanet:93425

[Term]
id: MONDO:0019691
name: short rib dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93426"}
synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426]
synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426]
synonym: "SRP" EXACT [Orphanet:93426]
xref: ICD10:Q77.2 {source="ORDO:93426/e", source="Orphanet:93426", source="ORDO:93426/specific"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93426 {source="MONDO:equivalentTo"}
xref: SCTID:254050009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0018230 {source="Orphanet:93426"} ! primary bone dysplasia
property_value: exactMatch http://identifiers.org/snomedct/254050009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432195
property_value: exactMatch Orphanet:93426

[Term]
id: MONDO:0019692
name: multiple epiphyseal dysplasia and pseudoachondroplasia
subset: ordo_group_of_disorders {source="Orphanet:93429"}
xref: ICD10:Q78.8 {source="ORDO:93429/attributed", source="ORDO:93429/ntbt", source="Orphanet:93429"}
xref: Orphanet:93429 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93429"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93429

[Term]
id: MONDO:0019693
name: multiple metaphyseal dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93430"}
xref: ICD10:Q78.5 {source="Orphanet:93430", source="ORDO:93430/attributed", source="ORDO:93430/ntbt"}
xref: Orphanet:93430 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93430"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93430

[Term]
id: MONDO:0019694
name: spondylodysplastic dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93434"}
xref: Orphanet:93434 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93434"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93434

[Term]
id: MONDO:0019695
name: acromelic dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93436"}
xref: ICD10:Q74.8 {source="ORDO:93436/attributed", source="ORDO:93436/ntbt", source="Orphanet:93436"}
xref: Orphanet:93436 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93436"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93436

[Term]
id: MONDO:0019696
name: acromesomelic dysplasia
def: "Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature , called short-limb dwarfism . The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" [GARD:0000006]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:93437"}
synonym: "acromesomelic dwarfism" RELATED [GARD:0000006]
xref: DOID:0080049 {source="MONDO:equivalentTo"}
xref: GARD:0000006 {source="MONDO:equivalentTo"}
xref: MESH:C535658 {source="MONDO:equivalentTo", source="ORDO:93437/e", source="Orphanet:93437"}
xref: Orphanet:93437 {source="GARD:0000006", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0080049", source="MESH:C535658"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:93437"} ! primary bone dysplasia
property_value: exactMatch DOID:0080049
property_value: exactMatch http://identifiers.org/mesh/C535658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265278
property_value: exactMatch Orphanet:93437

[Term]
id: MONDO:0019697
name: mesomelic and rhizo-mesomelic dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93438"}
xref: Orphanet:93438 {source="MONDO:equivalentTo"}
xref: UMLS:CN229208 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93438"} ! primary bone dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229208
property_value: exactMatch Orphanet:93438

[Term]
id: MONDO:0019698
name: bent bone dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93439"}
synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439]
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93439 {source="MONDO:equivalentTo"}
xref: SCTID:254095002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0432238 {source="MONDO:equivalentTo", source="ORDO:93439/e", source="Orphanet:93439"}
is_a: MONDO:0018230 {source="Orphanet:93439"} ! primary bone dysplasia
property_value: exactMatch http://identifiers.org/snomedct/254095002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0432238
property_value: exactMatch Orphanet:93439

[Term]
id: MONDO:0019699
name: slender bone dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93440"}
xref: Orphanet:93440 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93440"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93440

[Term]
id: MONDO:0019700
name: primary bone dysplasia with multiple joint dislocations
subset: ordo_group_of_disorders {source="Orphanet:93441"}
synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441]
synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441]
xref: Orphanet:93441 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93441"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93441

[Term]
id: MONDO:0019701
name: chondrodysplasia punctata
def: "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." [NCIT:P378]
subset: ordo_group_of_disorders {source="Orphanet:93442"}
synonym: "CDP" EXACT [Orphanet:93442]
synonym: "chondrodysplasia calcificans congenita" EXACT [DOID:2581]
synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C84632]
synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581]
xref: DOID:2581 {source="MONDO:equivalentTo"}
xref: GARD:0008542 {source="MONDO:equivalentTo"}
xref: ICD10:Q77.3 {source="ORDO:93442/e", source="ORDO:93442/specific", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002806 {source="ORDO:93442/e", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581"}
xref: NCIT:C84632 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:2581"}
xref: Orphanet:93442 {source="MONDO:equivalentTo"}
xref: SCTID:360507004 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="MONDO:equivalentTo", source="DOID:2581"}
xref: UMLS:C0008445 {source="ORDO:93442/e", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581", source="NCIT:C84632"}
is_a: MONDO:0018230 {source="Orphanet:93442"} ! primary bone dysplasia
property_value: closeMatch http://identifiers.org/snomedct/205486004
property_value: closeMatch http://identifiers.org/snomedct/22932004
property_value: closeMatch http://identifiers.org/snomedct/278715001
property_value: closeMatch http://identifiers.org/snomedct/42778005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859132
property_value: exactMatch DOID:2581
property_value: exactMatch http://identifiers.org/mesh/D002806
property_value: exactMatch http://identifiers.org/snomedct/360507004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008445
property_value: exactMatch NCIT:C84632
property_value: exactMatch Orphanet:93442

[Term]
id: MONDO:0019702
name: neonatal osteosclerotic dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93443"}
xref: Orphanet:93443 {source="MONDO:equivalentTo"}
xref: SCTID:389236000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1300205 {source="ORDO:93443/e", source="Orphanet:93443", source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="linkedlife"} ! osteochondrodysplasia
is_a: MONDO:0019703 {source="Orphanet:93443"} ! primary bone dysplasia with increased bone density
property_value: exactMatch http://identifiers.org/snomedct/389236000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300205
property_value: exactMatch Orphanet:93443

[Term]
id: MONDO:0019703
name: primary bone dysplasia with increased bone density
subset: ordo_group_of_disorders {source="Orphanet:93444"}
synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444]
synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444]
synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444]
xref: Orphanet:93444 {source="MONDO:equivalentTo"}
xref: UMLS:CN043667 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019705 ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043667
property_value: exactMatch Orphanet:93444

[Term]
id: MONDO:0019704
name: primary bone dysplasia with decreased bone density
subset: ordo_group_of_disorders {source="Orphanet:93446"}
synonym: "primary osteodysplasia with decreased bone density" EXACT [Orphanet:93446]
synonym: "primary skeletal dysplasia with decreased bone density" EXACT [Orphanet:93446]
xref: Orphanet:93446 {source="MONDO:equivalentTo"}
is_a: MONDO:0019705 ! primary bone dysplasia with defective bone mineralization
property_value: exactMatch Orphanet:93446

[Term]
id: MONDO:0019705
name: primary bone dysplasia with defective bone mineralization
subset: ordo_group_of_disorders {source="Orphanet:93447"}
synonym: "primary osteodysplasia with defective bone mineralization" EXACT [Orphanet:93447]
synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [Orphanet:93447]
xref: Orphanet:93447 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93447"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93447

[Term]
id: MONDO:0019706
name: lysosomal storage disease with skeletal involvement
subset: ordo_group_of_disorders {source="Orphanet:93448"}
synonym: "dysostosis multiplex" EXACT [Orphanet:93448]
xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93448 {source="MONDO:equivalentTo"}
xref: SCTID:254069004 {source="MONDO:kboom-pr-1.00/0.84/13.93", source="MONDO:equivalentTo"}
xref: UMLS:CN206618 {source="MONDO:equivalentTo"}
is_a: MONDO:0002561 ! lysosomal storage disease
is_a: MONDO:0005381 {source="Orphanet:93448"} ! bone disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015958"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/254069004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206618
property_value: exactMatch Orphanet:93448

[Term]
id: MONDO:0019707
name: primary osteolysis
subset: ordo_group_of_disorders {source="Orphanet:93449"}
xref: Orphanet:93449 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93449"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93449

[Term]
id: MONDO:0019708
name: primary bone dysplasia with disorganized development of skeletal components
subset: ordo_group_of_disorders {source="Orphanet:93450"}
synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450]
synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450]
xref: Orphanet:93450 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93450"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93450

[Term]
id: MONDO:0019709
name: cleidocranial dysplasia and isolated cranial ossification defect
subset: ordo_group_of_disorders {source="Orphanet:93451"}
xref: Orphanet:93451 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93451"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93451

[Term]
id: MONDO:0019710
name: dysostosis with predominant craniofacial involvement
subset: ordo_group_of_disorders {source="Orphanet:93453"}
xref: Orphanet:93453 {source="MONDO:equivalentTo"}
is_a: MONDO:0018454 {source="Orphanet:93453"} ! dysostosis of genetic origin
property_value: exactMatch Orphanet:93453

[Term]
id: MONDO:0019711
name: dysostosis with predominant vertebral and costal involvement
subset: ordo_group_of_disorders {source="Orphanet:93454"}
xref: Orphanet:93454 {source="MONDO:equivalentTo"}
is_a: MONDO:0018454 {source="Orphanet:93454"} ! dysostosis of genetic origin
property_value: exactMatch Orphanet:93454

[Term]
id: MONDO:0019712
name: patellar dysostosis
subset: ordo_group_of_disorders {source="Orphanet:93455"}
xref: Orphanet:93455 {source="MONDO:equivalentTo"}
is_a: MONDO:0018454 {source="Orphanet:93455"} ! dysostosis of genetic origin
property_value: exactMatch Orphanet:93455

[Term]
id: MONDO:0019713
name: non-syndromic limb reduction defect
subset: ordo_group_of_disorders {source="Orphanet:93457"}
synonym: "isolated limb reduction defect" RELATED [MONDO:DesignPattern]
synonym: "non-syndromic limb hypoplasia" EXACT [Orphanet:93457]
synonym: "nonsyndromic limb reduction defect" EXACT [MONDO:DesignPattern]
xref: ICD10:Q71.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.1 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.2 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.3 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.4 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.5 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.6 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q71.9 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.1 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.2 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.3 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.4 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.5 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.6 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.7 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q72.9 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q73.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q73.1 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: ICD10:Q73.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"}
xref: Orphanet:93457 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:93457"} ! non-syndromic limb malformation
is_a: MONDO:0018455 {source="Orphanet:93457"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch Orphanet:93457

[Term]
id: MONDO:0019714
name: non-syndromic polydactyly, syndactyly and/or hyperphalangy
subset: ordo_group_of_disorders {source="Orphanet:93458"}
synonym: "isolated polydactyly, syndactyly and/or hyperphalangy" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" EXACT [MONDO:DesignPattern]
xref: Orphanet:93458 {source="MONDO:equivalentTo"}
is_a: MONDO:0015227 {source="Orphanet:93458"} ! non-syndromic limb malformation
is_a: MONDO:0018455 {source="Orphanet:93458"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch Orphanet:93458

[Term]
id: MONDO:0019715
name: syndrome with synostosis or other joint formation defect
subset: ordo_group_of_disorders {source="Orphanet:93459"}
xref: Orphanet:93459 {source="MONDO:equivalentTo"}
xref: UMLS:CN206620 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015226 {source="Orphanet:93459"} ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="Orphanet:93459"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206620
property_value: exactMatch Orphanet:93459

[Term]
id: MONDO:0019716
name: overgrowth syndrome
def: "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." [NCIT:C94828]
subset: ordo_group_of_disorders {source="Orphanet:93460"}
xref: ICD10:Q87.3 {source="Orphanet:93460", source="ORDO:93460/specific", source="ORDO:93460/e"}
xref: NCIT:C94828 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:93460 {source="MONDO:equivalentTo"}
xref: UMLS:C2986703 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C94828"}
xref: UMLS:CN206621 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015330 {source="Orphanet:93460"} ! overgrowth/obesity syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206621
property_value: exactMatch NCIT:C94828
property_value: exactMatch Orphanet:93460

[Term]
id: MONDO:0019717
name: chromosomal disease with overgrowth
subset: ordo_group_of_disorders {source="Orphanet:93461"}
xref: Orphanet:93461 {source="MONDO:equivalentTo"}
xref: UMLS:CN206622 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
is_a: MONDO:0019716 {source="MONDO:Redundant", source="Orphanet:93461"} ! overgrowth syndrome
intersection_of: MONDO:0019040 ! chromosomal anomaly
intersection_of: MONDO:0019716 ! overgrowth syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206622
property_value: exactMatch Orphanet:93461

[Term]
id: MONDO:0019718
name: lethal chondrodysplasia
subset: ordo_group_of_disorders {source="Orphanet:93465"}
xref: Orphanet:93465 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:93465"} ! primary bone dysplasia
property_value: exactMatch Orphanet:93465

[Term]
id: MONDO:0019719
name: congenital anomaly of kidney and urinary tract
def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." [DOID:0080205, PMID:25313840]
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:93545"}
synonym: "CAKUT" EXACT [Orphanet:93545]
synonym: "congenital anomalies of kidney and urinary tract" EXACT [Orphanet:93545]
synonym: "congenital anomalies of the kidney and urinary tract" EXACT [DOID:0080205]
synonym: "renal or urinary tract malformation" EXACT [DOID:0080205]
xref: DOID:0080205 {source="MONDO:equivalentTo"}
xref: MESH:C566906 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:610805 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080205"}
xref: Orphanet:93545 {source="MONDO:equivalentTo", source="DOID:0080205"}
xref: UMLS:C1968949 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93545"}
is_a: MONDO:0005240 {source="Orphanet:93545"} ! kidney disease
is_a: MONDO:0019755 {source="Orphanet:93545"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0019750"} ! rare
property_value: exactMatch DOID:0080205
property_value: exactMatch http://identifiers.org/mesh/C566906
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1968949
property_value: exactMatch Orphanet:93545

[Term]
id: MONDO:0019720
name: non-syndromic renal or urinary tract malformation
def: "A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:93546"}
synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT []
synonym: "isolated renal or urinary tract malformation" RELATED [MONDO:DesignPattern]
synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic renal or urinary tract malformation" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
xref: Orphanet:93546 {source="MONDO:equivalentTo"}
is_a: MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546"} ! congenital anomaly of kidney and urinary tract
intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:93546

[Term]
id: MONDO:0019721
name: syndromic renal or urinary tract malformation
def: "A renal or urinary tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:93547"}
synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic renal or urinary tract malformation" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:93547 {source="MONDO:equivalentTo"}
xref: UMLS:CN227683 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93547"} ! congenital anomaly of kidney and urinary tract
intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227683
property_value: exactMatch Orphanet:93547

[Term]
id: MONDO:0019722
name: glomerular disease
def: "A disease involving the renal glomerulus." [MONDO:patterns/location_top]
subset: ordo_group_of_disorders {source="Orphanet:93548"}
synonym: "disease of renal glomerulus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal glomerulus" EXACT []
synonym: "disorder of renal glomerulus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of renal glomerulus" RELATED [MONDO:patterns/location_top]
synonym: "glomerulopathies" RELATED [GTR:AN0966176]
synonym: "glomerulopathy" EXACT [MONDO:patterns/location]
synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location]
synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:4059452 {source="MONDO:equivalentTo"}
xref: GTR:AN0966176 {source="UMLS:CN580795"}
xref: ICD10:N00.N08 {source="MONDO:equivalentTo"}
xref: NCIT:C120887 {source="MONDO:equivalentTo"}
xref: Orphanet:93548 {source="MONDO:equivalentTo"}
xref: SCTID:197679002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN580795 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="NCIT:C120887/inferred", source="OWLReasoner:2017", source="Orphanet:93548", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019750"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268731
property_value: exactMatch http://identifiers.org/snomedct/197679002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN580795
property_value: exactMatch NCIT:C120887
property_value: exactMatch Orphanet:93548

[Term]
id: MONDO:0019723
name: disease of glomerular basement membrane
subset: ordo_group_of_disorders {source="Orphanet:93550"}
synonym: "basement membrane disease" BROAD [Orphanet:93550]
xref: Orphanet:93550 {source="MONDO:equivalentTo"}
xref: UMLS:CN206630 {source="MONDO:equivalentTo"}
is_a: MONDO:0019722 {source="MONDO:Redundant", source="Orphanet:93550"} ! glomerular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206630
property_value: exactMatch Orphanet:93550

[Term]
id: MONDO:0019724
name: secondary glomerular disease
def: "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established" [https://doi.org/10.1016/j.mpmed.2007.06.008]
subset: ordo_group_of_disorders {source="Orphanet:93551"}
xref: Orphanet:93551 {source="MONDO:equivalentTo"}
xref: UMLS:CN206631 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019722 {source="Orphanet:93551"} ! glomerular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206631
property_value: exactMatch Orphanet:93551

[Term]
id: MONDO:0019725
name: pediatric systemic lupus erythematosus
subset: ordo_disease {source="Orphanet:93552"}
synonym: "SLE, pediatric onset" EXACT [Orphanet:93552]
xref: ICD10:M32.0 {source="Orphanet:93552", source="ORDO:93552/ntbt"}
xref: ICD10:M32.1 {source="Orphanet:93552", source="ORDO:93552/ntbt"}
xref: ICD10:M32.8 {source="Orphanet:93552", source="ORDO:93552/ntbt"}
xref: ICD10:M32.9 {source="Orphanet:93552", source="ORDO:93552/ntbt"}
xref: Orphanet:93552 {source="MONDO:equivalentTo"}
is_a: MONDO:0007915 ! systemic lupus erythematosus (disease)
relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:93552"} ! inflammatory and autoimmune disease with epilepsy
relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:93552"} ! secondary interstitial lung disease specific to childhood associated with a connective tissue disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93552"} ! secondary glomerular disease
relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:93552"} ! thrombotic microangiopathy
property_value: exactMatch Orphanet:93552

[Term]
id: MONDO:0019726
name: type II mixed cryoglobulinemia
def: "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." [Orphanet:93554]
subset: ordo_etiological_subtype {source="Orphanet:93554"}
synonym: "MC type II" EXACT [Orphanet:93554]
xref: ICD10:D89.1 {source="MONDO:relatedTo", source="Orphanet:93554", source="ORDO:93554/ntbt"}
xref: Orphanet:93554 {source="MONDO:equivalentTo"}
xref: UMLS:CN206633 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007407 {source="Orphanet:93554"} ! Cryoglobulinemic vasculitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206633
property_value: exactMatch Orphanet:93554

[Term]
id: MONDO:0019727
name: mixed cryoglobulinemia type III
def: "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." [Orphanet:93555]
subset: ordo_etiological_subtype {source="Orphanet:93555"}
synonym: "MC type III" EXACT [Orphanet:93555]
xref: ICD10:D89.1 {source="MONDO:relatedTo", source="ORDO:93555/ntbt", source="Orphanet:93555"}
xref: Orphanet:93555 {source="MONDO:equivalentTo"}
xref: UMLS:CN206634 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007407 {source="Orphanet:93555"} ! Cryoglobulinemic vasculitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206634
property_value: exactMatch Orphanet:93555

[Term]
id: MONDO:0019728
name: heavy chain deposition disease
subset: ordo_clinical_subtype {source="Orphanet:93556"}
synonym: "HCDD" EXACT [Orphanet:93556]
xref: ICD10:D89.8 {source="ORDO:93556/ntbt", source="Orphanet:93556"}
xref: NCIT:C7339 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:93556 {source="MONDO:equivalentTo"}
xref: UMLS:C1333947 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C7339"}
xref: UMLS:CN206635 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019463 {source="Orphanet:93556"} ! non-amyloid monoclonal immunoglobulin deposition disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333947
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206635
property_value: exactMatch NCIT:C7339
property_value: exactMatch Orphanet:93556

[Term]
id: MONDO:0019729
name: light and heavy chain deposition disease
subset: ordo_clinical_subtype {source="Orphanet:93557"}
synonym: "LHCDD" EXACT [Orphanet:93557]
xref: ICD10:D89.8 {source="ORDO:93557/ntbt", source="Orphanet:93557"}
xref: Orphanet:93557 {source="MONDO:equivalentTo"}
xref: UMLS:CN206636 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019463 {source="Orphanet:93557"} ! non-amyloid monoclonal immunoglobulin deposition disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206636
property_value: exactMatch Orphanet:93557

[Term]
id: MONDO:0019730
name: light chain deposition disease
def: "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome . Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma . LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." [https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease]
subset: gard_rare {source="GARD:0006906"}
subset: ordo_clinical_subtype {source="Orphanet:93558"}
synonym: "Bence Jones myeloma" EXACT [NCIT:C7727]
synonym: "LCDD" EXACT [Orphanet:93558]
synonym: "Light chain disease" EXACT [NCIT:C7727]
synonym: "Light chain gammopathy" EXACT [NCIT:C7727]
synonym: "Light-chain deposition disease" RELATED [GARD:0006906]
xref: GARD:0006906 {source="MONDO:equivalentTo"}
xref: ICD10:D89.8 {source="ORDO:93558/ntbt", source="Orphanet:93558"}
xref: NCIT:C7727 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:93558 {source="MONDO:equivalentTo"}
xref: SCTID:373604002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.74"}
xref: UMLS:C0238239 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93558", source="NCIT:C7727"}
is_a: MONDO:0019463 {source="Orphanet:93558"} ! non-amyloid monoclonal immunoglobulin deposition disease
property_value: exactMatch http://identifiers.org/snomedct/373604002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238239
property_value: exactMatch NCIT:C7727
property_value: exactMatch Orphanet:93558
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease xsd:anyURI {source="GARD:0006906"}

[Term]
id: MONDO:0019731
name: AApoAI amyloidosis
subset: ordo_clinical_subtype {source="Orphanet:93560"}
synonym: "apolipoprotein A-I amyloidosis" EXACT [Orphanet:93560]
synonym: "familial amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "familial renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "hereditary amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "hereditary renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
xref: ICD10:E85.0 {source="Orphanet:93560", source="ORDO:93560/attributed", source="ORDO:93560/ntbt"}
xref: Orphanet:93560 {source="MONDO:equivalentTo"}
xref: UMLS:CN206638 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007099 {source="MONDOLEX:0019731", source="Orphanet:93560"} ! familial visceral amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206638
property_value: exactMatch Orphanet:93560

[Term]
id: MONDO:0019732
name: ALys amyloidosis
subset: ordo_clinical_subtype {source="Orphanet:93561"}
synonym: "familial amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "familial renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "hereditary amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561]
xref: ICD10:E85.0 {source="Orphanet:93561", source="ORDO:93561/attributed", source="ORDO:93561/ntbt"}
xref: Orphanet:93561 {source="MONDO:equivalentTo"}
xref: UMLS:CN206639 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007099 {source="MONDOLEX:0019732", source="Orphanet:93561"} ! familial visceral amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206639
property_value: exactMatch Orphanet:93561

[Term]
id: MONDO:0019733
name: AFib amyloidosis
subset: ordo_clinical_subtype {source="Orphanet:93562"}
synonym: "familial amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
synonym: "fibrinogen A alpha-chain amyloidosis" EXACT [Orphanet:93562]
synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
xref: ICD10:E85.0 {source="Orphanet:93562", source="ORDO:93562/attributed", source="ORDO:93562/ntbt"}
xref: Orphanet:93562 {source="MONDO:equivalentTo"}
xref: UMLS:CN206640 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007099 {source="MONDOLEX:0019733", source="Orphanet:93562"} ! familial visceral amyloidosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206640
property_value: exactMatch Orphanet:93562

[Term]
id: MONDO:0019734
name: juvenile polymyositis
def: "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." [NCIT:C114358]
subset: gard_rare {source="GARD:0012742"}
subset: ordo_disease {source="Orphanet:93568"}
synonym: "JPM" EXACT [NCIT:C114358]
synonym: "juvenile PM" EXACT [Orphanet:93568]
xref: EFO:1001988 {source="MONDO:equivalentTo"}
xref: GARD:0012742 {source="MONDO:equivalentTo"}
xref: ICD10:M33.2 {source="MONDO:subClassOf", source="ORDO:93568/ntbt", source="Orphanet:93568"}
xref: NCIT:C114358 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:93568 {source="MONDO:equivalentTo"}
xref: SCTID:738526005 {source="MONDO:equivalentTo"}
xref: UMLS:C3826988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C114358"}
is_a: MONDO:0017021 {source="Orphanet:93568"} ! secondary interstitial lung disease specific to childhood associated with a connective tissue disease
is_a: MONDO:0018010 {source="Orphanet:93568"} ! juvenile idiopathic inflammatory myopathy
is_a: MONDO:0019127 {source="EFO:1001988", source="MONDOLEX:0019734", source="NCIT:C114358"} ! polymyositis
property_value: exactMatch http://identifiers.org/snomedct/738526005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3826988
property_value: exactMatch NCIT:C114358
property_value: exactMatch Orphanet:93568
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis xsd:anyURI {source="GARD:0012742"}

[Term]
id: MONDO:0019735
name: polymyalgia rheumatica
def: "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." [NCIT:P378]
subset: ordo_disease {source="Orphanet:93569"}
synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM_2006:725]
synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569]
xref: COHD:255348 {source="MONDO:equivalentTo"}
xref: DOID:853 {source="MONDO:equivalentTo"}
xref: GARD:0004704 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:M35.3 {source="DOID:853", source="ORDO:93569/e", source="Orphanet:93569"}
xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10068240 {source="ORDO:93569/e", source="Orphanet:93569"}
xref: MESH:D011111 {source="DOID:853", source="MONDO:equivalentTo"}
xref: NCIT:C85018 {source="DOID:853", source="MONDO:kboom-pr-0.97/0.79/2.63", source="MONDO:equivalentTo"}
xref: Orphanet:93569 {source="MONDO:equivalentTo"}
xref: SCTID:65323003 {source="DOID:853", source="MONDO:kboom-pr-0.92/0.83/0.19", source="MONDO:equivalentTo"}
xref: UMLS:C0032533 {source="DOID:853", source="NCIT:C85018", source="MONDO:equivalentTo", source="Orphanet:93569"}
xref: UMLS:C1527406 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="ORDO:93569/e", source="Orphanet:93569"}
is_a: MONDO:0002254 {source="NCIT:C85018"} ! syndromic disease
is_a: MONDO:0005336 {source="DOID:853"} ! myopathy
is_a: MONDO:0005554 {source="MESH:D011111", source="MONDO:Redundant", source="NCIT:C85018", source="Orphanet:93569", source="indirect"} ! rheumatologic disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/156656001
property_value: closeMatch http://identifiers.org/snomedct/202834009
property_value: closeMatch http://identifiers.org/snomedct/267988003
property_value: exactMatch DOID:853
property_value: exactMatch http://identifiers.org/meddra/10068240
property_value: exactMatch http://identifiers.org/mesh/D011111
property_value: exactMatch http://identifiers.org/snomedct/65323003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032533
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527406
property_value: exactMatch NCIT:C85018
property_value: exactMatch Orphanet:93569

[Term]
id: MONDO:0019736
name: dense deposit disease
def: "Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." [Orphanet:93571]
subset: ordo_histopathological_subtype {source="Orphanet:93571"}
synonym: "glomerulonephritis membranoproliferative type 2" RELATED [GARD:0008555]
synonym: "membranoproliferative glomerulonephritis type 2" EXACT [Orphanet:93571]
synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:0008555]
synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039]
synonym: "MPGN 2" RELATED [GARD:0008555]
xref: GARD:0008555 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N04.6 {source="Orphanet:93571", source="ORDO:93571/specific", source="ORDO:93571/e"}
xref: NCIT:C123039 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:93571 {source="MONDO:equivalentTo"}
xref: SCTID:722760002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0268743 {source="Orphanet:93571", source="MONDO:equivalentTo", source="NCIT:C123039", source="ORDO:93571/e"}
is_a: MONDO:0018013 {source="Orphanet:93571"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis
property_value: exactMatch http://identifiers.org/mesh/D015432
property_value: exactMatch http://identifiers.org/snomedct/722760002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268743
property_value: exactMatch NCIT:C123039
property_value: exactMatch Orphanet:93571

[Term]
id: MONDO:0019737
name: thrombotic microangiopathy
def: "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." [NCIT:C62605]
subset: ordo_group_of_disorders {source="Orphanet:93573"}
xref: COHD:313800 {source="MONDO:equivalentTo"}
xref: GARD:0012465 {source="MONDO:equivalentTo"}
xref: ICD10:M31.1 {source="MONDO:equivalentTo"}
xref: ICD9:446.6 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10043645 {source="ORDO:93573/e", source="Orphanet:93573"}
xref: MESH:D057049 {source="ORDO:93573/e", source="Orphanet:93573", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C62605 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:93573 {source="MONDO:equivalentTo"}
xref: SCTID:126729006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2717961 {source="ORDO:93573/e", source="Orphanet:93573", source="NCIT:C62605", source="MONDO:equivalentTo"}
is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C62605"} ! blood coagulation disease
is_a: MONDO:0005240 {source="Orphanet:93573"} ! kidney disease
property_value: exactMatch http://identifiers.org/meddra/10043645
property_value: exactMatch http://identifiers.org/mesh/D057049
property_value: exactMatch http://identifiers.org/snomedct/126729006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2717961
property_value: exactMatch NCIT:C62605
property_value: exactMatch Orphanet:93573

[Term]
id: MONDO:0019738
name: atypical hemolytic-uremic syndrome with H factor anomaly
subset: ordo_etiological_subtype {source="Orphanet:93579"}
synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579]
xref: ICD10:D58.8 {source="ORDO:93579/attributed", source="ORDO:93579/ntbt", source="Orphanet:93579"}
xref: Orphanet:93579 {source="MONDO:equivalentTo"}
xref: UMLS:CN206650 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1
is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93579", source="indirect"} ! atypical hemolytic-uremic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206650
property_value: exactMatch Orphanet:93579

[Term]
id: MONDO:0019739
name: atypical hemolytic-uremic syndrome with anti-factor H antibodies
subset: ordo_etiological_subtype {source="Orphanet:93581"}
synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581]
xref: ICD10:D58.8 {source="Orphanet:93581", source="ORDO:93581/attributed", source="ORDO:93581/ntbt"}
xref: Orphanet:93581 {source="MONDO:equivalentTo"}
xref: UMLS:CN206652 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1
is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93581", source="indirect"} ! atypical hemolytic-uremic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206652
property_value: exactMatch Orphanet:93581

[Term]
id: MONDO:0019740
name: acquired thrombotic thrombocytopenic purpura
def: "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93585]
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:93585"}
synonym: "acquired ADAMTS13 deficiency" EXACT [NCIT:C131653]
synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired]
synonym: "acquired TTP" EXACT [Orphanet:93585]
synonym: "autoimmune thrombotic thrombocytopenic purpura" EXACT [Orphanet:93585]
synonym: "idiopathic thrombotic thrombocytopenic purpura" RELATED [GARD:0004607]
synonym: "Moschowitz syndrome" RELATED [GARD:0004607]
synonym: "purpura, thrombotic thrombocytopenic" BROAD [GARD:0004607]
synonym: "TTP" BROAD [GARD:0004607]
xref: GARD:0004607 {source="MONDO:equivalentTo"}
xref: ICD10:M31.3 {source="MONDO:relatedTo", source="Orphanet:93585", source="ORDO:93585/ntbt"}
xref: MESH:C536901 {source="ORDO:93585/e", source="Orphanet:93585", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131653 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:93585 {source="MONDO:equivalentTo"}
xref: SCTID:438476003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C2584777 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2584778 {source="ORDO:93585/e", source="Orphanet:93585", source="MONDO:equivalentTo", source="NCIT:C131653"}
is_a: MONDO:0001198 ! acquired thrombocytopenia
is_a: MONDO:0018896 {source="MESH:C536901", source="MONDO:Redundant", source="MONDOLEX:0019740", source="NCIT:C131653", source="Orphanet:93585", source="linkedlifedata"} ! thrombotic thrombocytopenic purpura
intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/mesh/C536901
property_value: exactMatch http://identifiers.org/snomedct/438476003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584777
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2584778
property_value: exactMatch NCIT:C131653
property_value: exactMatch Orphanet:93585

[Term]
id: MONDO:0019741
name: familial cystic renal disease
def: "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:93587"}
synonym: "hereditary cystic kidney disease" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:93587 {source="MONDO:equivalentTo"}
xref: UMLS:CN206655 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002473 ! cystic kidney disease
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0002473 ! cystic kidney disease
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0020030"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206655
property_value: exactMatch Orphanet:93587

[Term]
id: MONDO:0019742
name: late-onset nephronophthisis
subset: ordo_clinical_subtype {source="Orphanet:93589"}
xref: ICD10:Q61.5 {source="ORDO:93589/attributed", source="ORDO:93589/ntbt", source="Orphanet:93589"}
xref: Orphanet:93589 {source="MONDO:equivalentTo"}
is_a: MONDO:0019005 {source="Orphanet:93589"} ! nephronophthisis (disease)
property_value: exactMatch Orphanet:93589

[Term]
id: MONDO:0019743
name: nephropathy secondary to a storage or other metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:93593"}
xref: Orphanet:93593 {source="MONDO:equivalentTo"}
xref: UMLS:CN206659 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="Orphanet:93593"} ! kidney disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020030"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206659
property_value: exactMatch Orphanet:93593

[Term]
id: MONDO:0019744
name: rare renal tubular disease
def: "Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:93603"}
synonym: "disease of renal tubule" EXACT [MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "renal tubule disease" EXACT []
xref: Orphanet:93603 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="Orphanet:93603"} ! kidney disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019750"} ! rare
property_value: exactMatch Orphanet:93603
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019745
name: cystinuria type A
subset: ordo_etiological_subtype {source="Orphanet:93612"}
xref: ICD10:E72.0 {source="ORDO:93612/attributed", source="ORDO:93612/ntbt", source="Orphanet:93612"}
xref: MESH:C531664 {source="MONDO:equivalentTo"}
xref: Orphanet:93612 {source="MONDO:equivalentTo"}
is_a: MONDO:0009067 {source="MESH:C531664", source="MONDOLEX:0019745", source="Orphanet:93612"} ! cystinuria (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857388
property_value: exactMatch http://identifiers.org/mesh/C531664
property_value: exactMatch Orphanet:93612

[Term]
id: MONDO:0019746
name: cystinuria type B
subset: ordo_etiological_subtype {source="Orphanet:93613"}
xref: ICD10:E72.0 {source="ORDO:93613/attributed", source="ORDO:93613/ntbt", source="Orphanet:93613"}
xref: Orphanet:93613 {source="MONDO:equivalentTo"}
xref: UMLS:C1857389 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93613"}
is_a: MONDO:0009067 {source="MONDOLEX:0019746", source="Orphanet:93613"} ! cystinuria (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857389
property_value: exactMatch Orphanet:93613

[Term]
id: MONDO:0019747
name: hematological disorder with renal involvement
subset: ordo_group_of_disorders {source="Orphanet:93614"}
xref: Orphanet:93614 {source="MONDO:equivalentTo"}
xref: UMLS:CN227684 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="Orphanet:93614"} ! kidney disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! hematologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227684
property_value: exactMatch Orphanet:93614

[Term]
id: MONDO:0019748
name: rare cause of hypertension
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:93618"}
xref: Orphanet:93618 {source="MONDO:equivalentTo"}
xref: UMLS:CN227685 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="Orphanet:93618"} ! kidney disease
is_a: MONDO:0005385 {source="Orphanet:93618"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019048", source="MONDO:0019750"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227685
property_value: exactMatch Orphanet:93618
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019749
name: obsolete rare renal tumor
def: "Any of the forms of kidney neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:93619"}
synonym: "rare kidney neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:93619 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:93619
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021163
consider: UMLS:C0022665 {source="Orphanet:93619"}

[Term]
id: MONDO:0019750
name: obsolete rare renal disease
def: "Any of the forms of urinary system disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:93626"}
synonym: "rare kidney disease" EXACT [MONDO:patterns/rare]
synonym: "rare urinary system disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:93626 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206681 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206681
property_value: exactMatch Orphanet:93626
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005240

[Term]
id: MONDO:0019751
name: autoinflammatory syndrome
def: "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." [NCIT:C119050, PMID:23827249]
comment: Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom
subset: ordo_group_of_disorders {source="Orphanet:93665"}
xref: MedDRA:10072220 {source="ORDO:93665/e", source="Orphanet:93665"}
xref: NCIT:C119050 {source="MONDO:equivalentTo"}
xref: Orphanet:93665 {source="MONDO:equivalentTo"}
xref: UMLS:C3267073 {source="ORDO:93665/e", source="MONDO:equivalentTo", source="Orphanet:93665"}
xref: UMLS:C3890737 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C119050"}
is_a: MONDO:0002254 {source="MONDOLEX:0019751", source="NCIT:C119050"} ! syndromic disease
is_a: MONDO:0005554 {source="Orphanet:93665"} ! rheumatologic disorder
is_a: MONDO:0044971 ! disease of macromolecular complex
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10072220
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3267073
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890737
property_value: exactMatch NCIT:C119050
property_value: exactMatch Orphanet:93665

[Term]
id: MONDO:0019752
name: pediatric Castleman disease
def: "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD, see this term) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." [Orphanet:93682]
subset: ordo_clinical_subtype {source="Orphanet:93682"}
xref: ICD10:D36.0 {source="Orphanet:93682", source="ORDO:93682/ntbt"}
xref: Orphanet:93682 {source="MONDO:equivalentTo"}
xref: UMLS:CN206684 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015564 {source="Orphanet:93682"} ! Castleman disease
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206684
property_value: exactMatch Orphanet:93682

[Term]
id: MONDO:0019753
name: localized Castleman disease
def: "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD; see this term) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." [Orphanet:93685]
subset: ordo_clinical_subtype {source="Orphanet:93685"}
synonym: "localized Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C115200]
synonym: "localized Castleman disease" EXACT [NCIT:C115200]
synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:0006005]
synonym: "Unicentric angiofollicular lymph hyperplasia" RELATED [GARD:0006005]
synonym: "Unicentric Castleman disease" RELATED [GARD:0006005]
xref: GARD:0006005 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D36.0 {source="Orphanet:93685", source="ORDO:93685/ntbt"}
xref: NCIT:C115200 {source="MONDO:equivalentTo"}
xref: Orphanet:93685 {source="MONDO:equivalentTo"}
xref: UMLS:C3898582 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C115200", source="MONDO:equivalentTo"}
xref: UMLS:CN206685 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015564 {source="NCIT:C115200", source="Orphanet:93685"} ! Castleman disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206685
property_value: exactMatch NCIT:C115200
property_value: exactMatch Orphanet:93685

[Term]
id: MONDO:0019754
name: multicentric Castleman disease
def: "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease (see this term) that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." [Orphanet:93686]
subset: ordo_clinical_subtype {source="Orphanet:93686"}
synonym: "idiopathic multicentric Castleman's disease" RELATED [GARD:0009644]
synonym: "MCD" EXACT [DOID:0111152, Orphanet:93686]
synonym: "multicentric Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C27855]
synonym: "multicentric Castleman's disease" EXACT [NCIT:C27855]
synonym: "multicentric giant lymph node hyperplasia" EXACT [DOID:0111152, Orphanet:93686]
synonym: "multicentric plasma cell variant of Castleman's disease" RELATED [GARD:0009644]
synonym: "plasmablastic multicentric Castleman disease" EXACT [DOID:0111152]
synonym: "PMCD" EXACT [DOID:0111152]
xref: DOID:0111152 {source="MONDO:equivalentTo"}
xref: GARD:0009644 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:9644 {source="DOID:0111152"}
xref: ICD10:D36.0 {source="Orphanet:93686", source="ORDO:93686/ntbt"}
xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"}
xref: Orphanet:93686 {source="MONDO:equivalentTo", source="DOID:0111152"}
xref: UMLS:C1334815 {source="ORDO:93686/e", source="MONDO:equivalentTo", source="Orphanet:93686", source="NCIT:C27855", source="DOID:0111152"}
xref: url:https\://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease {source="DOID:0111152"}
is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease
property_value: exactMatch DOID:0111152
property_value: exactMatch http://identifiers.org/mesh/C537372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334815
property_value: exactMatch NCIT:C27855
property_value: exactMatch Orphanet:93686

[Term]
id: MONDO:0019755
name: developmental defect during embryogenesis
def: "A disease that has its basis in the disruption of embryonic morphogenesis." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:93890"}
synonym: "congenital malformation syndrome" EXACT []
synonym: "developmental defect during embryogenesis" EXACT []
synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of embryonic morphogenesis" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern]
synonym: "malformation syndrome" EXACT [Orphanet:93890]
synonym: "rare developmental defect during embryogenesis" EXACT [Orphanet:93890]
xref: ICD9:759.7 {source="linkedlifedata"}
xref: NCIT:C99267 {source="MONDO:equivalentTo"}
xref: Orphanet:93890 {source="MONDO:equivalentTo"}
xref: SCTID:400038003 {source="MONDO:equivalentTo"}
xref: UMLS:C1302790 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"}
xref: UMLS:CN206687 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000839 {source="linkedlifedata"} ! congenital abnormality
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/snomedct/400038003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302790
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206687
property_value: exactMatch NCIT:C99267
property_value: exactMatch Orphanet:93890

[Term]
id: MONDO:0019756
name: lobar holoprosencephaly
def: "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." [Orphanet:93924]
subset: ordo_clinical_subtype {source="Orphanet:93924"}
xref: ICD10:Q04.2 {source="MONDO:subClassOf", source="ORDO:93924/attributed", source="ORDO:93924/ntbt", source="Orphanet:93924"}
xref: Orphanet:93924 {source="MONDO:equivalentTo"}
xref: SCTID:253136007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016296 {source="Orphanet:93924", source="linkedlifedata"} ! holoprosencephaly
property_value: exactMatch http://identifiers.org/snomedct/253136007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431362
property_value: exactMatch Orphanet:93924

[Term]
id: MONDO:0019757
name: alobar holoprosencephaly
def: "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." [Orphanet:93925]
subset: ordo_clinical_subtype {source="Orphanet:93925"}
xref: ICD10:Q04.2 {source="MONDO:subClassOf", source="ORDO:93925/attributed", source="ORDO:93925/ntbt", source="Orphanet:93925"}
xref: Orphanet:93925 {source="MONDO:equivalentTo"}
xref: SCTID:253137003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0016296 {source="Orphanet:93925", source="linkedlifedata"} ! holoprosencephaly
property_value: exactMatch http://identifiers.org/snomedct/253137003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431363
property_value: exactMatch Orphanet:93925

[Term]
id: MONDO:0019758
name: midline interhemispheric variant of holoprosencephaly
def: "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." [Orphanet:93926]
subset: ordo_clinical_subtype {source="Orphanet:93926"}
synonym: "middle interhemispheric fusion variant" EXACT [Orphanet:93926]
synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [Orphanet:93926]
synonym: "MIH" EXACT [Orphanet:93926]
synonym: "MIH type HPE" EXACT [Orphanet:93926]
synonym: "MIHF" EXACT [Orphanet:93926]
synonym: "MIHV" EXACT [Orphanet:93926]
synonym: "Syntelencephaly" EXACT [Orphanet:93926]
xref: ICD10:Q04.2 {source="MONDO:subClassOf", source="ORDO:93926/attributed", source="ORDO:93926/ntbt", source="Orphanet:93926"}
xref: Orphanet:93926 {source="MONDO:equivalentTo"}
xref: UMLS:CN206692 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016296 {source="Orphanet:93926"} ! holoprosencephaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206692
property_value: exactMatch Orphanet:93926

[Term]
id: MONDO:0019759
name: epispadias (disease)
def: "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." [Orphanet:93928]
subset: ordo_clinical_subtype {source="Orphanet:93928"}
synonym: "epispadias" EXACT [MONDO:ambiguous]
xref: HP:0000039 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q64.0 {source="Orphanet:93928", source="ORDO:93928/specific", source="ORDO:93928/e"}
xref: ICD9:752.62 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10015088 {source="Orphanet:93928", source="ORDO:93928/e"}
xref: MESH:D004842 {source="Orphanet:93928", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:93928/e"}
xref: NCIT:C98923 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:93928 {source="MONDO:equivalentTo"}
xref: SCTID:406476007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0014588 {source="NCIT:C98923", source="Orphanet:93928", source="MONDO:equivalentTo", source="ORDO:93928/e"}
xref: UMLS:CN227686 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017919 {source="Orphanet:93928"} ! bladder exstrophy-epispadias-cloacal exstrophy complex
property_value: exactMatch http://identifiers.org/meddra/10015088
property_value: exactMatch http://identifiers.org/mesh/D004842
property_value: exactMatch http://identifiers.org/snomedct/406476007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0563449
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227686
property_value: exactMatch NCIT:C98923
property_value: exactMatch Orphanet:93928

[Term]
id: MONDO:0019760
name: terminal transverse defects of arm
subset: ordo_morphological_anomaly {source="Orphanet:93937"}
synonym: "congenital limb amputation" EXACT [Orphanet:93937]
xref: ICD10:Q79.8 {source="ORDO:93937/attributed", source="ORDO:93937/ntbt", source="Orphanet:93937"}
xref: Orphanet:93937 {source="MONDO:equivalentTo"}
xref: UMLS:C1857578 {source="MONDO:equivalentTo", source="Orphanet:93937", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009011 ! constriction rings syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857578
property_value: exactMatch Orphanet:93937

[Term]
id: MONDO:0019761
name: laryngotracheoesophageal cleft type 1
def: "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." [Orphanet:93938]
subset: ordo_clinical_subtype {source="Orphanet:93938"}
synonym: "laryngo-tracheo-esophageal cleft type 1" EXACT [Orphanet:93938]
synonym: "LTEC I" EXACT [Orphanet:93938]
synonym: "LTEC1" EXACT [Orphanet:93938]
xref: ICD10:Q32.1 {source="Orphanet:93938", source="ORDO:93938/ntbt"}
xref: Orphanet:93938 {source="MONDO:equivalentTo"}
xref: UMLS:CN206696 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016060 {source="Orphanet:93938"} ! laryngotracheoesophageal cleft
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206696
property_value: exactMatch Orphanet:93938

[Term]
id: MONDO:0019762
name: laryngotracheoesophageal cleft type 2
def: "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." [Orphanet:93939]
subset: ordo_clinical_subtype {source="Orphanet:93939"}
synonym: "laryngo-tracheo-esophageal cleft type 2" EXACT [Orphanet:93939]
synonym: "LTEC II" EXACT [Orphanet:93939]
synonym: "LTEC2" EXACT [Orphanet:93939]
xref: ICD10:Q32.1 {source="Orphanet:93939", source="ORDO:93939/ntbt"}
xref: Orphanet:93939 {source="MONDO:equivalentTo"}
xref: UMLS:CN206697 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016060 {source="Orphanet:93939"} ! laryngotracheoesophageal cleft
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206697
property_value: exactMatch Orphanet:93939

[Term]
id: MONDO:0019763
name: laryngotracheoesophageal cleft type 3
def: "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." [Orphanet:93940]
subset: ordo_clinical_subtype {source="Orphanet:93940"}
synonym: "laryngo-tracheo-esophageal cleft type 3" EXACT [Orphanet:93940]
synonym: "LTEC III" EXACT [Orphanet:93940]
synonym: "LTEC3" EXACT [Orphanet:93940]
xref: ICD10:Q32.1 {source="ORDO:93940/ntbt", source="Orphanet:93940"}
xref: Orphanet:93940 {source="MONDO:equivalentTo"}
xref: UMLS:CN206698 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016060 {source="Orphanet:93940"} ! laryngotracheoesophageal cleft
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206698
property_value: exactMatch Orphanet:93940

[Term]
id: MONDO:0019764
name: laryngotracheoesophageal cleft type 4
def: "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." [Orphanet:93941]
subset: ordo_clinical_subtype {source="Orphanet:93941"}
synonym: "laryngo-tracheo-esophageal cleft type 4" EXACT [Orphanet:93941]
synonym: "LTEC IV" EXACT [Orphanet:93941]
synonym: "LTEC4" EXACT [Orphanet:93941]
xref: ICD10:Q32.1 {source="ORDO:93941/ntbt", source="Orphanet:93941"}
xref: Orphanet:93941 {source="MONDO:equivalentTo"}
xref: UMLS:CN206699 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016060 {source="Orphanet:93941"} ! laryngotracheoesophageal cleft
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206699
property_value: exactMatch Orphanet:93941

[Term]
id: MONDO:0019765
name: Celosomia
subset: ordo_morphological_anomaly {source="Orphanet:93942"}
xref: ICD10:Q76.7 {source="ORDO:93942/ntbt", source="Orphanet:93942"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:93942 {source="MONDO:equivalentTo"}
xref: SCTID:44518003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
is_a: MONDO:0015215 {source="Orphanet:93942"} ! non-syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0016066 {source="Orphanet:93942"} ! sternal cleft
property_value: exactMatch http://identifiers.org/snomedct/44518003
property_value: exactMatch Orphanet:93942

[Term]
id: MONDO:0019766
name: X-linked intellectual disability, Porteous type
subset: ordo_clinical_subtype {source="Orphanet:93945"}
xref: Orphanet:93945 {source="MONDO:equivalentTo"}
xref: UMLS:CN206701 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010653 {source="Orphanet:93945"} ! Renpenning syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206701
property_value: exactMatch Orphanet:93945

[Term]
id: MONDO:0019767
name: hamel cerebro-palato-cardiac syndrome
def: "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." [Orphanet:93946]
subset: ordo_clinical_subtype {source="Orphanet:93946"}
xref: Orphanet:93946 {source="MONDO:equivalentTo"}
xref: UMLS:CN206702 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206702
property_value: exactMatch Orphanet:93946

[Term]
id: MONDO:0019768
name: X-linked intellectual disability, Golabi-Ito-hall type
def: "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." [Orphanet:93947]
subset: ordo_clinical_subtype {source="Orphanet:93947"}
xref: Orphanet:93947 {source="MONDO:equivalentTo"}
xref: UMLS:CN206703 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010653 {source="Orphanet:93947"} ! Renpenning syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206703
property_value: exactMatch Orphanet:93947

[Term]
id: MONDO:0019769
name: X-linked intellectual disability, Sutherland-Haan type
subset: ordo_clinical_subtype {source="Orphanet:93950"}
xref: Orphanet:93950 {source="MONDO:equivalentTo"}
xref: UMLS:CN206704 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010653 {source="Orphanet:93950"} ! Renpenning syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206704
property_value: exactMatch Orphanet:93950

[Term]
id: MONDO:0019770
name: X-linked dominant intellectual disability-epilepsy syndrome
subset: ordo_disease {source="Orphanet:93951"}
xref: Orphanet:93951 {source="MONDO:equivalentTo"}
xref: UMLS:CN227687 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016160 {source="Orphanet:93951"} ! X-linked intellectual disability-epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227687
property_value: exactMatch Orphanet:93951

[Term]
id: MONDO:0019771
name: oromandibular dystonia
def: "Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." [Orphanet:93958]
subset: ordo_disease {source="Orphanet:93958"}
xref: DOID:0050843 {source="MONDO:equivalentTo"}
xref: ICD10:G24.4 {source="ORDO:93958/e", source="ORDO:93958/specific", source="Orphanet:93958"}
xref: Orphanet:93958 {source="MONDO:equivalentTo"}
xref: UMLS:C0393607 {source="MONDO:equivalentTo", source="ORDO:93958/e", source="Orphanet:93958"}
is_a: MONDO:0000477 {source="DOID:0050843", source="https://en.wikipedia.org/wiki/Dystonia"} ! focal dystonia
is_a: MONDO:0015990 {source="Orphanet:93958"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:0050843
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393607
property_value: exactMatch Orphanet:93958

[Term]
id: MONDO:0019772
name: blepharospasm-oromandibular dystonia syndrome
def: "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." [Orphanet:93964]
subset: ordo_disease {source="Orphanet:93964"}
synonym: "blepharospasm - oromandibular dystonia" RELATED [GARD:0007008]
synonym: "blepharospasm-oromandibular dystonia" RELATED [GARD:0007008]
synonym: "Brueghel syndrome" RELATED [GARD:0007008]
synonym: "idiopathic blepharospasm-oromandibular dystonia syndrome" RELATED [GARD:0007008]
synonym: "Meige dystonia" EXACT [Orphanet:93964]
synonym: "Meige syndrome" EXACT [MONDO:0002825, Orphanet:93964]
synonym: "Meige's syndrome" RELATED [GARD:0007008]
synonym: "oral facial dystonia" RELATED [GARD:0007008]
synonym: "segmental cranial dystonia" RELATED [GARD:0007008]
xref: DOID:3982 {source="MONDO:equivalentTo"}
xref: GARD:0007008 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G24.8 {source="ORDO:93964/attributed", source="ORDO:93964/ntbt", source="Orphanet:93964"}
xref: MESH:D008538 {source="DOID:3982", source="MONDO:equivalentTo"}
xref: Orphanet:93964 {source="MONDO:equivalentTo"}
xref: SCTID:230325003 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"}
is_a: MONDO:0015990 {source="Orphanet:93964"} ! focal, segmental or multifocal dystonia
property_value: exactMatch DOID:3982
property_value: exactMatch http://identifiers.org/mesh/D008538
property_value: exactMatch http://identifiers.org/snomedct/230325003
property_value: exactMatch Orphanet:93964

[Term]
id: MONDO:0019773
name: myelomeningocele
def: "Myelomeningocele is the most severe form of spina bifida . It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains ( hydrocephalus ). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." [https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele]
subset: gard_rare {source="GARD:0003475"}
subset: ordo_morphological_anomaly {source="Orphanet:93969"}
synonym: "meningomyelocele" RELATED [GARD:0003475]
xref: DOID:0060326 {source="MONDO:equivalentTo"}
xref: EFO:1001369 {source="MONDO:equivalentTo"}
xref: GARD:0003475 {source="MONDO:equivalentTo"}
xref: HP:0002475 {source="MONDO:otherHierarchy", source="DOID:0060326"}
xref: ICD10:Q05 {source="DOID:0060326"}
xref: ICD10:Q05.0 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.1 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.2 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.3 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.4 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.5 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.6 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.7 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.8 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: ICD10:Q05.9 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"}
xref: MESH:D008591 {source="MONDO:equivalentTo", source="DOID:0060326", source="MONDO:ontobio"}
xref: Orphanet:93969 {source="MONDO:equivalentTo"}
xref: SCTID:414667000 {source="MONDO:kboom-pr-0.99/0.73/5.39", source="MONDO:equivalentTo", source="DOID:0060326"}
is_a: MONDO:0017069 {source="Orphanet:93969"} ! spina bifida cystica
property_value: closeMatch http://identifiers.org/snomedct/156890007
property_value: closeMatch http://identifiers.org/snomedct/203984008
property_value: closeMatch http://identifiers.org/snomedct/203988006
property_value: closeMatch http://identifiers.org/snomedct/203989003
property_value: closeMatch http://identifiers.org/snomedct/203993009
property_value: closeMatch http://identifiers.org/snomedct/203995002
property_value: closeMatch http://identifiers.org/snomedct/203999008
property_value: closeMatch http://identifiers.org/snomedct/268308005
property_value: closeMatch http://identifiers.org/snomedct/7096005
property_value: closeMatch http://identifiers.org/snomedct/82058009
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025312
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086664
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751316
property_value: closeMatch NCIT:C98874
property_value: exactMatch DOID:0060326
property_value: exactMatch http://identifiers.org/mesh/D008591
property_value: exactMatch http://identifiers.org/snomedct/414667000
property_value: exactMatch Orphanet:93969
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele xsd:anyURI {source="GARD:0003475"}

[Term]
id: MONDO:0019774
name: Holmes-Gang syndrome
def: "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term)." [Orphanet:93970]
comment: Editor note: check GARD assignment
subset: ordo_malformation_syndrome {source="Orphanet:93970"}
xref: ICD10:Q87.0 {source="Orphanet:93970", source="ORDO:93970/attributed", source="ORDO:93970/ntbt"}
xref: Orphanet:93970 {source="MONDO:equivalentTo"}
xref: UMLS:CN206715 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010663 {source="Orphanet:93970"} ! X-linked intellectual disability-hypotonic face syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206715
property_value: exactMatch Orphanet:93970

[Term]
id: MONDO:0019775
name: Chudley-Lowry-Hoar syndrome
def: "Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies; see this term)." [Orphanet:93971]
subset: ordo_malformation_syndrome {source="Orphanet:93971"}
synonym: "Chudley Lowry Hoar syndrome" RELATED [GARD:0001357]
synonym: "Chudley mental retardation syndrome" RELATED [GARD:0001357]
synonym: "Chudley syndrome 1" RELATED [GARD:0001357]
synonym: "Chudley-Lowry syndrome" EXACT [Orphanet:93971]
synonym: "mental retardation-hypotonic facies syndrome X-linked, 1" RELATED [GARD:0001357]
synonym: "SFM1" RELATED [GARD:0001357]
synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357]
xref: GARD:0001357 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: Orphanet:93971 {source="MONDO:equivalentTo"}
xref: SCTID:717763008 {source="MONDO:equivalentTo"}
xref: UMLS:CN206716 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0010663 {source="Orphanet:93971"} ! X-linked intellectual disability-hypotonic face syndrome
property_value: exactMatch http://identifiers.org/snomedct/717763008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206716
property_value: exactMatch Orphanet:93971

[Term]
id: MONDO:0019776
name: Juberg-Marsidi syndrome
def: "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term)." [Orphanet:93972]
subset: ordo_malformation_syndrome {source="Orphanet:93972"}
synonym: "juberg Marsidi syndrome" EXACT []
xref: Orphanet:93972 {source="MONDO:equivalentTo"}
xref: SCTID:721875000 {source="MONDO:equivalentTo"}
is_a: MONDO:0010663 {source="Orphanet:93972"} ! X-linked intellectual disability-hypotonic face syndrome
is_a: MONDO:0015620 {source="Orphanet:93972"} ! syndromic urogenital tract malformation
relationship: excluded_subClassOf MONDO:0001071 {source="indirect", source="linkedlife"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537457
property_value: exactMatch http://identifiers.org/snomedct/721875000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796003
property_value: exactMatch Orphanet:93972

[Term]
id: MONDO:0019777
name: Carpenter-Waziri syndrome
def: "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term)." [Orphanet:93973]
subset: ordo_malformation_syndrome {source="Orphanet:93973"}
xref: Orphanet:93973 {source="MONDO:equivalentTo"}
xref: UMLS:CN206718 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010663 {source="Orphanet:93973"} ! X-linked intellectual disability-hypotonic face syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206718
property_value: exactMatch Orphanet:93973

[Term]
id: MONDO:0019778
name: Smith-Fineman-Myers syndrome
def: "Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term)." [Orphanet:93974]
subset: ordo_malformation_syndrome {source="Orphanet:93974"}
synonym: "mental retardation Smith Fineman Myers type" RELATED [GARD:0003521]
synonym: "Smith Fineman Myers syndrome" RELATED [GARD:0003521]
xref: GARD:0003521 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C537445 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:93974 {source="MONDO:equivalentTo"}
xref: SCTID:719212004 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
xref: UMLS:C0796159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:93974"}
is_a: MONDO:0010663 {source="Orphanet:93974"} ! X-linked intellectual disability-hypotonic face syndrome
property_value: exactMatch http://identifiers.org/mesh/C537445
property_value: exactMatch http://identifiers.org/snomedct/719212004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796159
property_value: exactMatch Orphanet:93974

[Term]
id: MONDO:0019779
name: Renier-Gabreels-Jasper syndrome
def: "Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term)." [Orphanet:93975]
subset: gard_rare {source="GARD:0004672"}
subset: ordo_malformation_syndrome {source="Orphanet:93975"}
synonym: "Renier Gabreels Jasper syndrome" RELATED [GARD:0004672]
xref: GARD:0004672 {source="MONDO:equivalentTo"}
xref: Orphanet:93975 {source="MONDO:equivalentTo"}
xref: SCTID:723501008 {source="MONDO:equivalentTo"}
xref: UMLS:CN206720 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010663 {source="Orphanet:93975"} ! X-linked intellectual disability-hypotonic face syndrome
property_value: exactMatch http://identifiers.org/snomedct/723501008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206720
property_value: exactMatch Orphanet:93975
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome xsd:anyURI {source="GARD:0004672"}

[Term]
id: MONDO:0019780
name: anotia
def: "Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." [Orphanet:93976]
subset: ordo_morphological_anomaly {source="Orphanet:93976"}
xref: ICD10:Q16.0 {source="ORDO:93976/nd", source="Orphanet:93976", source="ORDO:93976/specific"}
xref: ICD10:Q16.1 {source="ORDO:93976/nd", source="Orphanet:93976", source="ORDO:93976/specific"}
xref: ICD9:744.01 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10002654 {source="ORDO:93976/e", source="Orphanet:93976"}
xref: Orphanet:93976 {source="MONDO:equivalentTo"}
xref: SCTID:57436000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/5.95"}
is_a: MONDO:0015502 {source="Orphanet:93976"} ! pinnae and external auditory canal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0702139
property_value: exactMatch http://identifiers.org/meddra/10002654
property_value: exactMatch http://identifiers.org/mesh/C537772
property_value: exactMatch http://identifiers.org/snomedct/57436000
property_value: exactMatch Orphanet:93976

[Term]
id: MONDO:0019781
name: astrocytoma (excluding glioblastoma)
def: "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781]
comment: This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23
synonym: "astrocytoma" EXACT AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781]
xref: ICDO:9400/3 {source="NCIT:C60781"}
xref: MESH:D001254 {source="MONDO:equivalentTo"}
xref: NCIT:C60781 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ASTR {source="MONDO:equivalentTo"}
xref: SCTID:147101000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C0004114 {source="DOID:3069", source="MONDO:equivalentTo", source="Orphanet:94", source="NCIT:C60781", source="ORDO:94/e"}
is_a: MONDO:0021636 {source="MONDOLEX:0019781", source="NCIT:C60781"} ! astrocytic tumor
property_value: exactMatch http://identifiers.org/mesh/D001254
property_value: exactMatch http://identifiers.org/snomedct/147101000119108
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004114
property_value: exactMatch NCIT:C60781

[Term]
id: MONDO:0019782
name: humero-ulnar synostosis
subset: ordo_morphological_anomaly {source="Orphanet:94056"}
synonym: "humero-ulnar fusion" EXACT [Orphanet:94056]
xref: ICD10:Q74.0 {source="Orphanet:94056", source="ORDO:94056/attributed", source="ORDO:94056/ntbt"}
xref: Orphanet:94056 {source="MONDO:equivalentTo"}
is_a: MONDO:0017429 {source="Orphanet:94056"} ! joint formation defects
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431799
property_value: exactMatch Orphanet:94056

[Term]
id: MONDO:0019783
name: neovascular glaucoma
def: "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." [Orphanet:94058]
subset: ordo_clinical_situation {source="Orphanet:94058"}
synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [DOID:1687]
xref: DOID:1687 {source="MONDO:equivalentTo", source="EFO:1001060"}
xref: EFO:1001060 {source="MONDO:equivalentTo"}
xref: MedDRA:10062891 {source="ORDO:94058/e", source="Orphanet:94058", source="EFO:1001060"}
xref: MESH:D015355 {source="ORDO:94058/e", source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="MONDO:ontobio", source="EFO:1001060"}
xref: Orphanet:94058 {source="MONDO:equivalentTo"}
xref: SCTID:232086000 {source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0017609 {source="ORDO:94058/e", source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo"}
is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/193564003
property_value: closeMatch http://identifiers.org/snomedct/314785001
property_value: exactMatch DOID:1687
property_value: exactMatch http://identifiers.org/meddra/10062891
property_value: exactMatch http://identifiers.org/mesh/D015355
property_value: exactMatch http://identifiers.org/snomedct/232086000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017609
property_value: exactMatch Orphanet:94058

[Term]
id: MONDO:0019784
name: 12q14 microdeletion syndrome
def: "gene: mutations in this gene have already been implicated in osteopoikilosis." [Orphanet:94063]
subset: gard_rare {source="GARD:0013390"}
subset: ordo_malformation_syndrome {source="Orphanet:94063"}
synonym: "Del(12)(q14)" EXACT [Orphanet:94063]
synonym: "deletion 12q14" EXACT [Orphanet:94063]
synonym: "monosomy 12q14" EXACT [Orphanet:94063]
synonym: "osteopoikilosis-short stature-intellectual disability syndrome" EXACT [Orphanet:94063]
xref: GARD:0013390 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.5 {source="ORDO:94063/attributed", source="ORDO:94063/ntbt", source="Orphanet:94063"}
xref: Orphanet:94063 {source="MONDO:equivalentTo"}
xref: SCTID:719046005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.25"}
xref: UMLS:C4305140 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN206727 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000508 {source="Orphanet:94063"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016877 {source="Orphanet:94063"} ! partial deletion of the long arm of chromosome 12
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0019703 {source="Orphanet:94063", source="Orphanet:94063/inferred"} ! primary bone dysplasia with increased bone density
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/snomedct/719046005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4305140
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206727
property_value: exactMatch Orphanet:94063
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome xsd:anyURI {source="GARD:0013390"}

[Term]
id: MONDO:0019785
name: obsolete 15q24 microdeletion syndrome
is_obsolete: true
replaced_by: MONDO:0013256

[Term]
id: MONDO:0019786
name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
def: "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." [Orphanet:94066]
subset: ordo_malformation_syndrome {source="Orphanet:94066"}
xref: ICD10:Q87.8 {source="Orphanet:94066", source="ORDO:94066/attributed", source="ORDO:94066/ntbt"}
xref: Orphanet:94066 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94066", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:94066"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch Orphanet:94066

[Term]
id: MONDO:0019787
name: autoimmune enteropathy
def: "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." [Orphanet:94075]
subset: ordo_group_of_disorders {source="Orphanet:94075"}
synonym: "immune-mediated protracted diarrhea of infancy" EXACT [Orphanet:94075]
synonym: "severe immune-mediated enteropathy" EXACT [Orphanet:94075]
xref: GARD:0008689 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538273 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C94694 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: Orphanet:94075 {source="MONDO:equivalentTo"}
xref: SCTID:235728001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0341305 {source="MONDO:equivalentTo", source="NCIT:C94694", source="Orphanet:94075"}
is_a: MONDO:0000588 ! autoimmune disease of gastrointestinal tract
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C538273
property_value: exactMatch http://identifiers.org/snomedct/235728001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341305
property_value: exactMatch NCIT:C94694
property_value: exactMatch Orphanet:94075

[Term]
id: MONDO:0019788
name: non-secreting paraganglioma
def: "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed." [Orphanet:94080]
subset: ordo_disease {source="Orphanet:94080"}
synonym: "non-functioning paraganglioma" RELATED [Orphanet:94080]
xref: Orphanet:94080 {source="MONDO:equivalentTo"}
xref: SCTID:764999002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="MONDO:cjm"} ! paraganglioma
relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/764999002
property_value: exactMatch Orphanet:94080

[Term]
id: MONDO:0019789
name: cytophagic histiocytic panniculitis
def: "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." [Orphanet:94087]
subset: ordo_disease {source="Orphanet:94087"}
synonym: "CHP" EXACT [Orphanet:94087]
synonym: "Winkelmann cytophagic panniculitis" EXACT [Orphanet:94087]
xref: ICD10:M35.8 {source="Orphanet:94087", source="ORDO:94087/ntbt"}
xref: Orphanet:94087 {source="MONDO:equivalentTo"}
xref: SCTID:238883003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0406594 {source="Orphanet:94087", source="MONDO:equivalentTo", source="ORDO:94087/e"}
is_a: MONDO:0006591 {source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis
is_a: MONDO:0019296 {source="Orphanet:94087"} ! subcutaneous tissue disease
property_value: exactMatch http://identifiers.org/snomedct/238883003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406594
property_value: exactMatch Orphanet:94087

[Term]
id: MONDO:0019790
name: neuroleptic malignant syndrome
def: "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." [Orphanet:94093]
subset: gard_rare {source="GARD:0007195"}
subset: ordo_disease {source="Orphanet:94093"}
synonym: "NMS" EXACT [NCIT:C94829]
xref: COHD:379802 {source="MONDO:equivalentTo"}
xref: DOID:14464 {source="MONDO:equivalentTo"}
xref: EFO:1001379 {source="MONDO:equivalentTo"}
xref: GARD:0007195 {source="MONDO:equivalentTo"}
xref: ICD10:G21.0 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464"}
xref: ICD9:333.92 {source="MONDO:equivalentTo", source="i2s", source="DOID:14464"}
xref: MedDRA:10029282 {source="ORDO:94093/e", source="Orphanet:94093"}
xref: MESH:D009459 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464", source="MONDO:ontobio"}
xref: NCIT:C94829 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14464"}
xref: Orphanet:94093 {source="MONDO:equivalentTo", source="DOID:14464"}
xref: SCTID:15244003 {source="MONDO:equivalentTo", source="DOID:14464", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0027849 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464", source="NCIT:C94829"}
is_a: MONDO:0002254 {source="MONDOLEX:0019790", source="NCIT:C94829"} ! syndromic disease
is_a: MONDO:0018753 {source="Orphanet:94093"} ! rare disease with malignant hyperthermia
property_value: closeMatch http://identifiers.org/snomedct/192826000
property_value: closeMatch http://identifiers.org/snomedct/68977009
property_value: exactMatch DOID:14464
property_value: exactMatch http://identifiers.org/meddra/10029282
property_value: exactMatch http://identifiers.org/mesh/D009459
property_value: exactMatch http://identifiers.org/snomedct/15244003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027849
property_value: exactMatch NCIT:C94829
property_value: exactMatch Orphanet:94093
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome xsd:anyURI {source="GARD:0007195"}

[Term]
id: MONDO:0019791
name: recessive mitochondrial ataxia syndrome
subset: ordo_disease {source="Orphanet:94125"}
synonym: "MIRAS" EXACT [Orphanet:94125]
xref: EFO:0008816 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="Orphanet:94125", source="ORDO:94125/attributed", source="ORDO:94125/ntbt"}
xref: Orphanet:94125 {source="MONDO:equivalentTo"}
xref: UMLS:CN206743 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016798 {source="Orphanet:94125"} ! ataxia neuropathy spectrum
is_a: MONDO:0020044 {source="Orphanet:94125"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206743
property_value: exactMatch Orphanet:94125

[Term]
id: MONDO:0019792
name: autosomal dominant cerebellar ataxia type I
def: "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." [Orphanet:94145]
subset: ordo_group_of_disorders {source="Orphanet:94145"}
synonym: "ADCA1" EXACT [Orphanet:94145]
synonym: "ADCAI" EXACT [Orphanet:94145]
synonym: "autosomal dominant cerebellar ataxia type 1" EXACT [Orphanet:94145]
synonym: "cerebellar plus syndrome" EXACT [Orphanet:94145]
xref: ICD10:G11.8 {source="Orphanet:94145", source="ORDO:94145/attributed", source="ORDO:94145/ntbt"}
xref: Orphanet:94145 {source="MONDO:equivalentTo"}
xref: UMLS:CN206744 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="Orphanet:94145"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206744
property_value: exactMatch Orphanet:94145

[Term]
id: MONDO:0019793
name: autosomal dominant cerebellar ataxia type III
def: "Autosomal dominant cerebellar ataxia (ACDA; see this term) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms)." [Orphanet:94148]
subset: ordo_group_of_disorders {source="Orphanet:94148"}
synonym: "ADCA3" EXACT [Orphanet:94148]
synonym: "ADCAIII" EXACT [Orphanet:94148]
synonym: "autosomal dominant cerebellar ataxia type 3" EXACT [Orphanet:94148]
synonym: "autosomal dominant cerebellar ataxia type III" EXACT [Orphanet:94148]
synonym: "Pure cerebellar syndrome-mild pyramidal signs syndrome" EXACT [Orphanet:94148]
xref: ICD10:G11.8 {source="Orphanet:94148", source="ORDO:94148/attributed", source="ORDO:94148/ntbt"}
xref: Orphanet:94148 {source="MONDO:equivalentTo"}
xref: UMLS:CN206746 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="Orphanet:94148"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206746
property_value: exactMatch Orphanet:94148

[Term]
id: MONDO:0019794
name: autosomal dominant cerebellar ataxia type IV
subset: ordo_group_of_disorders {source="Orphanet:94149"}
synonym: "ADCA4" EXACT [Orphanet:94149]
synonym: "ADCAIV" EXACT [Orphanet:94149]
synonym: "autosomal dominant cerebellar ataxia type 4" EXACT [Orphanet:94149]
synonym: "autosomal dominant cerebellar ataxia type IV" EXACT [Orphanet:94149]
xref: ICD10:G11.8 {source="ORDO:94149/attributed", source="ORDO:94149/ntbt", source="Orphanet:94149"}
xref: Orphanet:94149 {source="MONDO:equivalentTo"}
xref: UMLS:CN229225 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="Orphanet:94149"} ! autosomal dominant cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229225
property_value: exactMatch Orphanet:94149

[Term]
id: MONDO:0019795
name: acalvaria
def: "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." [Orphanet:945]
subset: gard_rare {source="GARD:0000361"}
subset: ordo_malformation_syndrome {source="Orphanet:945"}
synonym: "Acrania" EXACT [Orphanet:945]
synonym: "primary acalvaria" RELATED [GARD:0000361]
xref: GARD:0000361 {source="MONDO:equivalentTo"}
xref: ICD10:Q00.0 {source="Orphanet:945", source="ORDO:945/ntbt"}
xref: MESH:C535570 {source="ORDO:945/e", source="MONDO:equivalentTo", source="Orphanet:945"}
xref: Orphanet:945 {source="MONDO:equivalentTo"}
xref: SCTID:203923004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C2930936 {source="ORDO:945/e", source="MONDO:equivalentTo", source="Orphanet:945"}
is_a: MONDO:0020018 {source="Orphanet:945"} ! cranial malformation
property_value: exactMatch http://identifiers.org/mesh/C535570
property_value: exactMatch http://identifiers.org/mesh/D009436
property_value: exactMatch http://identifiers.org/snomedct/203923004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0702169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930936
property_value: exactMatch Orphanet:945
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/361/acalvaria xsd:anyURI {source="GARD:0000361"}

[Term]
id: MONDO:0019796
name: acrocephalosyndactyly
def: "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." [Orphanet:946]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:946"}
synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946]
synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348]
synonym: "ACS" EXACT [Orphanet:946]
synonym: "apert syndrome" EXACT EXCLUDE [DOID:12960]
xref: COHD:439134 {source="MONDO:equivalentTo"}
xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"}
xref: EFO:0004123 {source="MONDO:equivalentTo"}
xref: GARD:0000486 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="ORDO:946/ntbt", source="Orphanet:946", source="ORDO:946/inclusion"}
xref: ICD9:755.55 {source="MONDO:equivalentTo", source="i2s", source="DOID:12960"}
xref: MedDRA:10000590 {source="ORDO:946/e", source="Orphanet:946"}
xref: NCIT:C34348 {source="MONDO:equivalentTo", source="DOID:12960", source="exact-label-match"}
xref: Orphanet:946 {source="MONDO:equivalentTo"}
xref: SCTID:268262006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12960"}
is_a: MONDO:0015338 {source="Orphanet:946"} ! syndromic craniosynostosis
is_a: MONDO:0019715 {source="Orphanet:946"} ! syndrome with synostosis or other joint formation defect
property_value: closeMatch http://identifiers.org/snomedct/205257004
property_value: closeMatch http://identifiers.org/snomedct/63661009
property_value: exactMatch DOID:12960
property_value: exactMatch http://identifiers.org/meddra/10000590
property_value: exactMatch http://identifiers.org/snomedct/268262006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510455
property_value: exactMatch NCIT:C34348
property_value: exactMatch Orphanet:946

[Term]
id: MONDO:0019797
name: acrodysostosis
def: "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." [Orphanet:950]
subset: gard_rare {source="GARD:0005724"}
subset: ordo_malformation_syndrome {source="Orphanet:950"}
synonym: "acrodysplasia" EXACT [Orphanet:950]
synonym: "Arkless-Graham syndrome" EXACT [Orphanet:950]
synonym: "Maroteaux-Malamut syndrome" EXACT [Orphanet:950]
synonym: "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome" RELATED [GARD:0005724]
synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" RELATED [GARD:0005724]
xref: DOID:14669 {source="MONDO:equivalentTo"}
xref: GARD:0005724 {source="MONDO:equivalentTo"}
xref: ICD10:Q75.4 {source="Orphanet:950", source="ORDO:950/attributed", source="ORDO:950/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="ORDO:950/e"}
xref: OMIMPS:101800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:950 {source="MONDO:equivalentTo"}
xref: SCTID:66758006 {source="DOID:14669", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.67/1.90"}
xref: UMLS:C0220659 {source="DOID:14669", source="Orphanet:950", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:950/e"}
is_a: MONDO:0015483 {source="Orphanet:950"} ! mandibulofacial dysostosis
is_a: MONDO:0018234 {source="DOID:14669", source="MESH:C538179", source="MONDO:Redundant", source="Orphanet:950/inferred", source="linkedlifedata"} ! dysostosis
is_a: MONDO:0019695 {source="Orphanet:950"} ! acromelic dysplasia
property_value: exactMatch DOID:14669
property_value: exactMatch http://identifiers.org/mesh/C538179
property_value: exactMatch http://identifiers.org/snomedct/66758006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220659
property_value: exactMatch Orphanet:950
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis xsd:anyURI {source="GARD:0005724"}

[Term]
id: MONDO:0019798
name: obsolete acute hepatic porphyria
is_obsolete: true
replaced_by: MONDO:0002520

[Term]
id: MONDO:0019799
name: hepatoerythropoietic porphyria
def: "Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis." [Orphanet:95159]
subset: ordo_disease {source="Orphanet:95159"}
synonym: "hep" EXACT [Orphanet:95159]
xref: DOID:5230 {source="MONDO:equivalentTo"}
xref: GARD:0006169 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E80.2 {source="Orphanet:95159", source="ORDO:95159/attributed", source="ORDO:95159/ntbt"}
xref: MESH:D017121 {source="ORDO:95159/e", source="Orphanet:95159", source="MONDO:equivalentTo", source="DOID:5230"}
xref: NCIT:C84754 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.71/0.26", source="DOID:5230"}
xref: Orphanet:95159 {source="MONDO:equivalentTo"}
xref: SCTID:111386004 {source="MONDO:kboom-pr-0.71/0.41/0.07", source="MONDO:equivalentTo", source="DOID:5230"}
xref: UMLS:C0162569 {source="NCIT:C84754", source="ORDO:95159/e", source="Orphanet:95159", source="MONDO:equivalentTo", source="DOID:5230"}
is_a: MONDO:0015104 {source="NCIT:C84754", source="linkedlifedata"} ! porphyria cutanea tarda
property_value: exactMatch DOID:5230
property_value: exactMatch http://identifiers.org/mesh/D017121
property_value: exactMatch http://identifiers.org/snomedct/111386004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162569
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268324
property_value: exactMatch NCIT:C84754
property_value: exactMatch Orphanet:95159

[Term]
id: MONDO:0019800
name: chronic hepatic porphyria
def: "Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." [Orphanet:95161]
subset: ordo_group_of_disorders {source="Orphanet:95161"}
synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern]
xref: ICD10:E80.2 {source="ORDO:95161/attributed", source="ORDO:95161/ntbt", source="Orphanet:95161"}
xref: Orphanet:95161 {source="MONDO:equivalentTo"}
is_a: MONDO:0002520 ! acute hepatic porphyria
relationship: excluded_subClassOf MONDO:0019142 {source="Orphanet:95161"} ! inherited porphyria
property_value: exactMatch Orphanet:95161

[Term]
id: MONDO:0019801
name: acute adrenal insufficiency
def: "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." [Orphanet:95409]
subset: ordo_clinical_syndrome {source="Orphanet:95409"}
synonym: "acute adrenal failure" EXACT [Orphanet:95409]
synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409]
synonym: "Addisonian crisis" EXACT [Orphanet:95409]
synonym: "adrenal crisis" EXACT [Orphanet:95409]
synonym: "adrenocortical crisis" EXACT [Orphanet:95409]
xref: ICD10:E27.2 {source="ORDO:95409/ntbt", source="Orphanet:95409"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C112840 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:95409 {source="MONDO:equivalentTo"}
xref: SCTID:24867002 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"}
xref: UMLS:C0151467 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C112840", source="Orphanet:95409"}
is_a: MONDO:0015128 {source="Orphanet:95409"} ! primary adrenal insufficiency
property_value: exactMatch http://identifiers.org/snomedct/24867002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151467
property_value: exactMatch NCIT:C112840
property_value: exactMatch Orphanet:95409

[Term]
id: MONDO:0019802
name: secondary short bowel syndrome
def: "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:95427]
subset: ordo_disease {source="Orphanet:95427"}
xref: ICD10:K91.2 {source="ORDO:95427/btnt", source="Orphanet:95427"}
xref: Orphanet:95427 {source="MONDO:equivalentTo"}
xref: UMLS:CN206757 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015183 {source="Orphanet:95427"} ! short bowel syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206757
property_value: exactMatch Orphanet:95427

[Term]
id: MONDO:0019803
name: angioma serpiginosum
def: "Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." [Orphanet:95429]
subset: ordo_disease {source="Orphanet:95429"}
synonym: "angioma serpiginosum of skin" EXACT [DOID:4028]
xref: DOID:4028 {source="MONDO:equivalentTo"}
xref: ICD10:L81.7 {source="ORDO:95429/ntbt", source="DOID:4028", source="Orphanet:95429", source="ORDO:95429/inclusion"}
xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"}
xref: Orphanet:95429 {source="DOID:4028", source="MONDO:equivalentTo"}
xref: SCTID:49465005 {source="DOID:4028", source="MONDO:kboom-pr-1.00/0.80/8.90", source="MONDO:equivalentTo"}
xref: UMLS:CN206759 {source="MONDO:equivalentTo"}
is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C3926/inferred"} ! dermis tumor
is_a: MONDO:0003110 {source="DOID:4028", source="NCIT:C3926"} ! skin hemangioma
is_a: MONDO:0016231 {source="Orphanet:95429"} ! capillary malformation
is_a: MONDO:0019293 {source="NCIT:C3926/inferred", source="Orphanet:95429", source="linkedlifedata/inferred"} ! skin vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015948", source="MONDO:0020031"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/11790000
property_value: closeMatch http://identifiers.org/snomedct/195382003
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263637
property_value: exactMatch DOID:4028
property_value: exactMatch http://identifiers.org/snomedct/49465005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206759
property_value: exactMatch NCIT:C3926
property_value: exactMatch Orphanet:95429
property_value: narrowMatch http://identifiers.org/mesh/C536366

[Term]
id: MONDO:0019804
name: tracheomalacia
def: "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." [Orphanet:95430]
subset: ordo_morphological_anomaly {source="Orphanet:95430"}
synonym: "congenital major airway collapse" EXACT [Orphanet:95430]
synonym: "congenital tracheomalacia" EXACT [DOID:0060313]
synonym: "tracheomalacia, congenital" RELATED [GARD:0010515]
synonym: "type 1 tracheomalacia" RELATED [GARD:0010515]
xref: COHD:4316227 {source="MONDO:equivalentTo"}
xref: DOID:0060313 {source="MONDO:equivalentTo"}
xref: GARD:0010515 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"}
xref: ICD10:Q32.0 {source="Orphanet:95430", source="ORDO:95430/specific", source="DOID:0060313", source="ORDO:95430/e"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10010654 {source="Orphanet:95430", source="ORDO:95430/e"}
xref: NCIT:C98634 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:95430 {source="MONDO:equivalentTo", source="DOID:0060313"}
xref: SCTID:95467005 {source="MONDO:equivalentTo", source="DOID:0060313", source="MONDO:kboom-pr-0.85/0.68/0.11"}
xref: UMLS:C0948187 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C98634"}
is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred", source="linkedlifedata/inferred"} ! tracheal disease
is_a: MONDO:0015221 {source="Orphanet:95430"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015505 {source="Orphanet:95430"} ! tracheal anomaly
is_a: MONDO:0015930 {source="Orphanet:95430"} ! respiratory malformation
is_a: MONDO:0018562 {source="Orphanet:95430", source="Orphanet:95430/inferred"} ! genetic otorhinolaryngological malformation
property_value: exactMatch DOID:0060313
property_value: exactMatch http://identifiers.org/meddra/10010654
property_value: exactMatch http://identifiers.org/mesh/C557675
property_value: exactMatch http://identifiers.org/snomedct/95467005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948187
property_value: exactMatch NCIT:C98634
property_value: exactMatch Orphanet:95430

[Term]
id: MONDO:0019805
name: twin to twin transfusion syndrome
def: "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" [Orphanet:95431]
subset: ordo_disease {source="Orphanet:95431"}
synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [DOID:13576, MTHICD9_2006:772.0]
synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576]
synonym: "fetal transfusion syndrome" RELATED [GARD:0000325]
synonym: "Feto-fetal transfusion syndrome" EXACT [Orphanet:95431]
synonym: "Fetofetal transfusion syndrome" RELATED [GARD:0000325]
synonym: "placental transfusion syndrome" EXACT [NCIT:C113824]
synonym: "stuck Twin syndrome" EXACT [NCIT:C113824]
synonym: "TTTS" RELATED [GARD:0000325]
synonym: "Twin to twin transfusion" EXACT [DOID:13576]
synonym: "Twin-to-twin blood transfer" EXACT [DOID:13576]
synonym: "twin-to-twin transfusion syndrome" EXACT [MONDO:0007003]
synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824]
xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"}
xref: EFO:1001221 {source="MONDO:equivalentTo"}
xref: GARD:0000325 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:O43.0 {source="Orphanet:95431", source="ORDO:95431/ntbt"}
xref: ICD10:O43.02 {source="DOID:13576"}
xref: ICD10:O43.029 {source="DOID:13576"}
xref: MedDRA:10058328 {source="Orphanet:95431", source="ORDO:95431/e"}
xref: MESH:D005330 {source="EFO:1001221", source="MONDO:equivalentTo", source="DOID:13576"}
xref: NCIT:C113824 {source="MONDO:equivalentTo", source="DOID:13576"}
xref: Orphanet:95431 {source="MONDO:equivalentTo"}
xref: SCTID:13404009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo", source="DOID:13576"}
xref: UMLS:CN206761 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001240 {source="DOID:13576", source="MESH:D005330"} ! neonatal anemia
is_a: MONDO:0005046 {source="Orphanet:95431"} ! immune system disease
property_value: closeMatch http://identifiers.org/snomedct/237299001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2909036
property_value: exactMatch DOID:13576
property_value: exactMatch http://identifiers.org/meddra/10058328
property_value: exactMatch http://identifiers.org/mesh/D005330
property_value: exactMatch http://identifiers.org/snomedct/13404009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206761
property_value: exactMatch NCIT:C113824
property_value: exactMatch Orphanet:95431

[Term]
id: MONDO:0019806
name: primary progressive aphasia
def: "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms)." [Orphanet:95432]
subset: ordo_group_of_disorders {source="Orphanet:95432"}
synonym: "Mesulam syndrome" EXACT [Orphanet:95432]
synonym: "PPA" EXACT [Orphanet:95432]
synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541]
xref: EFO:0009053 {source="MONDO:equivalentTo"}
xref: GARD:0008541 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G31.0 {source="Orphanet:95432", source="ORDO:95432/ntbt"}
xref: MESH:D018888 {source="ORDO:95432/e", source="Orphanet:95432", source="MONDO:equivalentTo"}
xref: NCIT:C85024 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.91/0.79/0.39"}
xref: Orphanet:95432 {source="MONDO:equivalentTo"}
xref: UMLS:C0282513 {source="ORDO:95432/e", source="Orphanet:95432", source="MONDO:equivalentTo", source="NCIT:C85024"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
property_value: exactMatch http://identifiers.org/mesh/D018888
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282513
property_value: exactMatch NCIT:C85024
property_value: exactMatch Orphanet:95432

[Term]
id: MONDO:0019807
name: mesocardia (disease)
subset: ordo_morphological_anomaly {source="Orphanet:95443"}
synonym: "mesocardia" EXACT [MONDO:ambiguous]
synonym: "Midline heart" EXACT [Orphanet:95443]
xref: HP:0011599 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q24.8 {source="Orphanet:95443", source="ORDO:95443/ntbt"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:95443 {source="MONDO:equivalentTo"}
xref: SCTID:16567006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0020284 {source="Orphanet:95443"} ! heart position anomaly
property_value: exactMatch http://identifiers.org/snomedct/16567006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265865
property_value: exactMatch Orphanet:95443

[Term]
id: MONDO:0019808
name: aortic valve atresia (disease)
def: "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." [NCIT:C98818]
subset: ordo_clinical_subtype {source="Orphanet:95448"}
synonym: "aortic valve atresia" EXACT [MONDO:ambiguous]
synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818]
synonym: "congenital atresia of aortic valve" EXACT [NCIT:C98818]
xref: HP:0010883 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q23.0 {source="ORDO:95448/ntbt", source="Orphanet:95448"}
xref: MedDRA:10066801 {source="ORDO:95448/e", source="Orphanet:95448"}
xref: NCIT:C98818 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:95448 {source="MONDO:equivalentTo"}
xref: SCTID:51442005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.92"}
is_a: MONDO:0003803 {source="NCIT:C98818"} ! aortic valve disease
is_a: MONDO:0005453 {source="NCIT:C98818", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease
is_a: MONDO:0017735 {source="Orphanet:95448"} ! congenital aortic valve stenosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265843
property_value: exactMatch http://identifiers.org/meddra/10066801
property_value: exactMatch http://identifiers.org/snomedct/51442005
property_value: exactMatch NCIT:C98818
property_value: exactMatch Orphanet:95448

[Term]
id: MONDO:0019809
name: congenital aortic valve insufficiency
def: "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." [NCIT:C103936]
subset: ordo_disease {source="Orphanet:95449"}
synonym: "congenital aortic insufficiency" EXACT [NCIT:C103936]
synonym: "congenital insufficiency of aortic valve" EXACT [NCIT:C103936]
synonym: "Congential aortic valve insufficiency" EXACT [NCIT:C103936]
xref: COHD:321107 {source="MONDO:equivalentTo"}
xref: ICD10:Q23.1 {source="ORDO:95449/e", source="Orphanet:95449"}
xref: ICD9:746.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10010370 {source="ORDO:95449/e", source="Orphanet:95449"}
xref: NCIT:C103936 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:95449 {source="MONDO:equivalentTo"}
xref: SCTID:28656008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
xref: UMLS:C0158617 {source="NCIT:C103936", source="MONDO:equivalentTo", source="ORDO:95449/e", source="Orphanet:95449"}
is_a: MONDO:0005648 {source="NCIT:C103936"} ! aortic valve insufficiency
is_a: MONDO:0020286 {source="Orphanet:95449"} ! aortic malformation
property_value: exactMatch http://identifiers.org/meddra/10010370
property_value: exactMatch http://identifiers.org/snomedct/28656008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158617
property_value: exactMatch NCIT:C103936
property_value: exactMatch Orphanet:95449

[Term]
id: MONDO:0019810
name: toxic epidermal necrolysis
def: "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." [Orphanet:95455]
subset: gard_rare {source="GARD:0007743"}
subset: ordo_disease {source="Orphanet:95455"}
synonym: "Lyell syndrome" EXACT [NCIT:C79777]
synonym: "Lyell's syndrome" EXACT [NCIT:C79777]
synonym: "SJS-TEN" EXACT [Orphanet:95455]
synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED [Orphanet:95455]
synonym: "TEN" EXACT [NCIT:C79777]
synonym: "toxic epidermolysis" EXACT [Orphanet:95455]
xref: EFO:0004775 {source="MONDO:equivalentTo"}
xref: GARD:0007743 {source="MONDO:equivalentTo"}
xref: ICD10:L51.2 {source="ORDO:95455/e", source="Orphanet:95455"}
xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10044223 {source="ORDO:95455/e", source="Orphanet:95455"}
xref: NCIT:C79777 {source="MONDO:kboom-pr-0.91/0.79/0.45", source="EFO:0004775", source="MONDO:equivalentTo"}
xref: Orphanet:95455 {source="MONDO:equivalentTo"}
xref: SCTID:23067006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
xref: UMLS:C0014518 {source="ORDO:95455/e", source="Orphanet:95455", source="MONDO:equivalentTo", source="NCIT:C79777"}
is_a: MONDO:0017396 {source="Orphanet:95455"} ! toxic dermatosis
property_value: exactMatch http://identifiers.org/meddra/10044223
property_value: exactMatch http://identifiers.org/mesh/D004816
property_value: exactMatch http://identifiers.org/snomedct/23067006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014518
property_value: exactMatch NCIT:C79777
property_value: exactMatch Orphanet:95455
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis xsd:anyURI {source="GARD:0007743"}

[Term]
id: MONDO:0019811
name: tricuspid valve agenesis
subset: ordo_morphological_anomaly {source="Orphanet:95457"}
synonym: "congenital unguarded tricuspid orifice" EXACT [Orphanet:95457]
xref: ICD10:Q22.4 {source="Orphanet:95457", source="ORDO:95457/ntbt", source="MONDO:directSiblingOf"}
xref: Orphanet:95457 {source="MONDO:equivalentTo"}
is_a: MONDO:0020289 {source="Orphanet:95457"} ! congenital tricuspid malformation
property_value: exactMatch Orphanet:95457

[Term]
id: MONDO:0019812
name: obsolete tricuspid valve prolapse
is_obsolete: true
replaced_by: MONDO:0007001

[Term]
id: MONDO:0019813
name: congenital tricuspid stenosis
subset: ordo_morphological_anomaly {source="Orphanet:95459"}
xref: ICD10:Q22.4 {source="ORDO:95459/e", source="MONDO:equivalentTo", source="Orphanet:95459"}
xref: MedDRA:10010656 {source="ORDO:95459/e", source="Orphanet:95459"}
xref: Orphanet:95459 {source="MONDO:equivalentTo"}
xref: SCTID:36233006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.63"}
is_a: MONDO:0020289 {source="Orphanet:95459"} ! congenital tricuspid malformation
property_value: exactMatch http://identifiers.org/meddra/10010656
property_value: exactMatch http://identifiers.org/snomedct/36233006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265836
property_value: exactMatch Orphanet:95459

[Term]
id: MONDO:0019814
name: straddling or overriding tricuspid valve
def: "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." [Orphanet:95461]
subset: ordo_morphological_anomaly {source="Orphanet:95461"}
xref: ICD10:Q22.8 {source="ORDO:95461/ntbt", source="Orphanet:95461"}
xref: Orphanet:95461 {source="MONDO:equivalentTo"}
is_a: MONDO:0020289 {source="Orphanet:95461"} ! congenital tricuspid malformation
property_value: exactMatch Orphanet:95461

[Term]
id: MONDO:0019815
name: accessory tricuspid valve tissue
def: "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." [Orphanet:95462]
subset: ordo_morphological_anomaly {source="Orphanet:95462"}
xref: ICD10:Q22.8 {source="Orphanet:95462", source="ORDO:95462/ntbt"}
xref: Orphanet:95462 {source="MONDO:equivalentTo"}
is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformation
property_value: exactMatch Orphanet:95462

[Term]
id: MONDO:0019816
name: anomaly of the tricuspid subvalvular apparatus
subset: ordo_group_of_disorders {source="Orphanet:95463"}
xref: ICD10:Q22.8 {source="Orphanet:95463", source="ORDO:95463/ntbt"}
xref: Orphanet:95463 {source="MONDO:equivalentTo"}
is_a: MONDO:0020289 {source="Orphanet:95463"} ! congenital tricuspid malformation
property_value: exactMatch Orphanet:95463

[Term]
id: MONDO:0019817
name: congenital mitral valve insufficiency and/or stenosis
subset: ordo_group_of_disorders {source="Orphanet:95464"}
xref: ICD10:Q23 {source="MONDO:equivalentTo"}
xref: ICD10:Q23.2 {source="Orphanet:95464", source="MONDO:superClassOf", source="ORDO:95464/btnt"}
xref: ICD10:Q23.3 {source="Orphanet:95464", source="ORDO:95464/btnt"}
xref: Orphanet:95464 {source="MONDO:equivalentTo"}
is_a: MONDO:0016582 {source="Orphanet:95464"} ! congenital mitral malformation
property_value: exactMatch Orphanet:95464

[Term]
id: MONDO:0019818
name: cleft mitral valve
subset: ordo_morphological_anomaly {source="Orphanet:95465"}
xref: ICD10:Q23.3 {source="Orphanet:95465", source="ORDO:95465/ntbt"}
xref: Orphanet:95465 {source="MONDO:equivalentTo"}
is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation
property_value: exactMatch Orphanet:95465

[Term]
id: MONDO:0019819
name: double-orifice mitral valve
subset: ordo_clinical_subtype {source="Orphanet:95474"}
xref: ICD10:Q23.8 {source="Orphanet:95474", source="ORDO:95474/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:95474 {source="MONDO:equivalentTo"}
xref: SCTID:253402005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019818 {source="Orphanet:95474"} ! cleft mitral valve
property_value: exactMatch http://identifiers.org/snomedct/253402005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344770
property_value: exactMatch Orphanet:95474

[Term]
id: MONDO:0019820
name: univentricular cardiopathy
subset: ordo_group_of_disorders {source="Orphanet:95483"}
xref: Orphanet:95483 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:95483"} ! congenital heart malformation
property_value: exactMatch Orphanet:95483

[Term]
id: MONDO:0019821
name: aneurysm or dilatation of ascending aorta
subset: ordo_morphological_anomaly {source="Orphanet:95484"}
xref: ICD10:Q25.4 {source="Orphanet:95484", source="ORDO:95484/ntbt"}
xref: Orphanet:95484 {source="MONDO:equivalentTo"}
is_a: MONDO:0020293 {source="Orphanet:95484"} ! ascending aorta anomaly
property_value: exactMatch Orphanet:95484

[Term]
id: MONDO:0019822
name: arterial duct anomaly
subset: ordo_group_of_disorders {source="Orphanet:95485"}
synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485]
xref: Orphanet:95485 {source="MONDO:equivalentTo"}
is_a: MONDO:0020292 {source="Orphanet:95485"} ! congenital anomaly of the great arteries
property_value: exactMatch Orphanet:95485

[Term]
id: MONDO:0019823
name: premature closure of the arterial duct
def: "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." [Orphanet:95486]
subset: ordo_morphological_anomaly {source="Orphanet:95486"}
synonym: "premature closure of the patent ductus arteriosus" EXACT [Orphanet:95486]
xref: ICD10:Q25.8 {source="Orphanet:95486", source="ORDO:95486/ntbt"}
xref: Orphanet:95486 {source="MONDO:equivalentTo"}
is_a: MONDO:0019822 {source="Orphanet:95486"} ! arterial duct anomaly
property_value: exactMatch Orphanet:95486

[Term]
id: MONDO:0019824
name: non-acquired pituitary hormone deficiency
comment: Editor note: consider merging with familial hypopituitarism
subset: ordo_group_of_disorders {source="Orphanet:95488"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="Orphanet:95488", source="ORDO:95488/attributed", source="ORDO:95488/ntbt"}
xref: Orphanet:95488 {source="MONDO:equivalentTo"}
is_a: MONDO:0015127 {source="Orphanet:95488"} ! pituitary deficiency
is_a: MONDO:0015514 {source="Orphanet:95488"} ! genetic endocrine growth disease
is_a: MONDO:0019590 {source="Orphanet:95488"} ! rare endocrine growth disease
property_value: exactMatch Orphanet:95488

[Term]
id: MONDO:0019825
name: congenital coronary artery aneurysm
def: "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." [Orphanet:95491]
subset: ordo_morphological_anomaly {source="Orphanet:95491"}
synonym: "congenital coronary aneurysm" EXACT [Orphanet:95491]
xref: ICD10:Q24.5 {source="ORDO:95491/ntbt", source="Orphanet:95491"}
xref: Orphanet:95491 {source="MONDO:equivalentTo"}
xref: SCTID:204378009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015203 {source="Orphanet:95491"} ! coronary artery congenital malformation
property_value: exactMatch http://identifiers.org/snomedct/204378009
property_value: exactMatch Orphanet:95491

[Term]
id: MONDO:0019826
name: abnormal origin or aberrant course of coronary artery
subset: ordo_group_of_disorders {source="Orphanet:95493"}
xref: ICD10:Q24.5 {source="ORDO:95493/ntbt", source="Orphanet:95493"}
xref: Orphanet:95493 {source="MONDO:equivalentTo"}
is_a: MONDO:0015203 {source="Orphanet:95493"} ! coronary artery congenital malformation
property_value: exactMatch Orphanet:95493

[Term]
id: MONDO:0019827
name: disease associated with non-acquired combined pituitary hormone deficiency
subset: ordo_group_of_disorders {source="Orphanet:95495"}
synonym: "secondary non-acquired combined pituitary hormone deficiency" EXACT [MONDO:cjm]
xref: Orphanet:95495 {source="MONDO:equivalentTo"}
xref: UMLS:CN206775 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018762 {source="Orphanet:95495"} ! non-acquired combined pituitary hormone deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206775
property_value: exactMatch Orphanet:95495

[Term]
id: MONDO:0019828
name: pituitary stalk interruption syndrome
def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." [Orphanet:95496]
subset: gard_rare {source="GARD:0013209"}
subset: ordo_morphological_anomaly {source="Orphanet:95496"}
synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496]
synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150]
synonym: "PSIS" EXACT [Orphanet:95496]
xref: GARD:0013209 {source="MONDO:equivalentTo"}
xref: ICD10:E23.6 {source="Orphanet:95496", source="ORDO:95496/attributed", source="ORDO:95496/ntbt"}
xref: NCIT:C121150 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.86/0.20"}
xref: Orphanet:95496 {source="MONDO:equivalentTo"}
xref: SCTID:715727009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4053775 {source="NCIT:C121150", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN206776 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0002254 {source="MONDOLEX:0019828", source="NCIT:C121150"} ! syndromic disease
is_a: MONDO:0019824 {source="Orphanet:95496"} ! non-acquired pituitary hormone deficiency
property_value: exactMatch http://identifiers.org/snomedct/715727009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4053775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206776
property_value: exactMatch NCIT:C121150
property_value: exactMatch Orphanet:95496
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome xsd:anyURI {source="GARD:0013209"}

[Term]
id: MONDO:0019829
name: congenital anomaly of superior vena cava
subset: ordo_group_of_disorders {source="Orphanet:95498"}
synonym: "congenital anomaly of superior caval vein" EXACT [Orphanet:95498]
synonym: "congenital anomaly of the SVC" EXACT [Orphanet:95498]
xref: ICD10:Q26.9 {source="Orphanet:95498", source="ORDO:95498/ntbt"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:95498 {source="MONDO:equivalentTo"}
xref: SCTID:70195006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0017710 {source="Orphanet:95498"} ! congenital systemic veins anomaly
property_value: exactMatch http://identifiers.org/snomedct/70195006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265928
property_value: exactMatch Orphanet:95498

[Term]
id: MONDO:0019830
name: congenital anomaly of the inferior vena cava
subset: ordo_group_of_disorders {source="Orphanet:95499"}
synonym: "congenital anomaly of the inferior caval vein" EXACT [Orphanet:95499]
synonym: "congenital anomaly of the IVC" EXACT [Orphanet:95499]
xref: ICD10:Q26.9 {source="Orphanet:95499", source="ORDO:95499/ntbt"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:95499 {source="MONDO:equivalentTo"}
xref: SCTID:81577001 {source="MONDO:kboom-pr-0.75/0.37/0.61", source="MONDO:equivalentTo"}
is_a: MONDO:0017710 {source="Orphanet:95499"} ! congenital systemic veins anomaly
property_value: exactMatch http://identifiers.org/snomedct/81577001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265932
property_value: exactMatch Orphanet:95499

[Term]
id: MONDO:0019831
name: congenital anomaly of the coronary sinus
subset: ordo_group_of_disorders {source="Orphanet:95500"}
xref: ICD10:Q21.1 {source="Orphanet:95500", source="ORDO:95500/ntbt"}
xref: Orphanet:95500 {source="MONDO:equivalentTo"}
is_a: MONDO:0017710 {source="Orphanet:95500"} ! congenital systemic veins anomaly
property_value: exactMatch Orphanet:95500

[Term]
id: MONDO:0019832
name: acquired pituitary hormone deficiency
def: "An instance of hypopituitarism that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
comment: Editor note: check this
subset: ordo_group_of_disorders {source="Orphanet:95502"}
synonym: "acquired hypopituitarism" EXACT [MONDO:patterns/acquired]
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="ORDO:95502/ntbt", source="Orphanet:95502"}
xref: Orphanet:95502 {source="MONDO:equivalentTo"}
is_a: MONDO:0005152 ! hypopituitarism
is_a: MONDO:0015127 {source="MONDO:Redundant", source="Orphanet:95502"} ! pituitary deficiency
intersection_of: MONDO:0005152 ! hypopituitarism
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:95502

[Term]
id: MONDO:0019833
name: pituitary hormone deficiency from tumoral origin
comment: Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma
subset: ordo_group_of_disorders {source="Orphanet:95503"}
xref: Orphanet:95503 {source="MONDO:equivalentTo"}
xref: UMLS:CN206780 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:95503"} ! acquired pituitary hormone deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206780
property_value: exactMatch Orphanet:95503

[Term]
id: MONDO:0019834
name: pituitary hormone deficiency from meningeal origin
subset: ordo_group_of_disorders {source="Orphanet:95505"}
xref: Orphanet:95505 {source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:95505"} ! acquired pituitary hormone deficiency
property_value: exactMatch Orphanet:95505

[Term]
id: MONDO:0019835
name: primary hypophysitis
def: "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." [MESH:D000069281]
subset: ordo_group_of_disorders {source="Orphanet:95506"}
synonym: "autoimmune hypophysitis" EXACT [Orphanet:95506]
synonym: "lymphocytic hypophysitis" EXACT [NCIT:C132055]
xref: ICD10:E23.6 {source="ORDO:95506/ntbt", source="Orphanet:95506"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000069281 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C132055 {source="MONDO:equivalentTo"}
xref: Orphanet:95506 {source="MONDO:equivalentTo"}
xref: SCTID:237706000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0000569 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autoimmune disease of endocrine system
is_a: MONDO:0019832 {source="Orphanet:95506"} ! acquired pituitary hormone deficiency
is_a: MONDO:0021156 {source="MESH:D000069281", source="MONDO:Redundant", source="linkedlifedata"} ! hypophysitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342410
property_value: exactMatch http://identifiers.org/mesh/D000069281
property_value: exactMatch http://identifiers.org/snomedct/237706000
property_value: exactMatch NCIT:C132055
property_value: exactMatch Orphanet:95506

[Term]
id: MONDO:0019836
name: congenital anomaly of hepatic vein
subset: ordo_morphological_anomaly {source="Orphanet:95507"}
xref: ICD10:Q26.8 {source="ORDO:95507/ntbt", source="Orphanet:95507"}
xref: Orphanet:95507 {source="MONDO:equivalentTo"}
is_a: MONDO:0017710 {source="Orphanet:95507"} ! congenital systemic veins anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3163825
property_value: exactMatch Orphanet:95507

[Term]
id: MONDO:0019837
name: atrial appendage anomaly
subset: ordo_group_of_disorders {source="Orphanet:95510"}
synonym: "atrial auricle anomaly" EXACT [Orphanet:95510]
xref: ICD10:Q20.8 {source="Orphanet:95510", source="ORDO:95510/ntbt"}
xref: Orphanet:95510 {source="MONDO:equivalentTo"}
is_a: MONDO:0020294 {source="Orphanet:95510"} ! atrial defect and interatrial communication
property_value: exactMatch Orphanet:95510

[Term]
id: MONDO:0019838
name: adenohypophysitis
def: "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." [PMID:21592417]
subset: ordo_disease {source="Orphanet:95512"}
synonym: "adenohypophysis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "anterior pituitary hypophysitis" EXACT [Orphanet:95512]
synonym: "inflammation of adenohypophysis" EXACT []
synonym: "lymphocytic adenohypophysitis" EXACT [PMID:21592417]
xref: ICD10:E23.6 {source="Orphanet:95512", source="ORDO:95512/ntbt"}
xref: Orphanet:95512 {source="MONDO:equivalentTo"}
is_a: MONDO:0019835 {source="Orphanet:95512"} ! primary hypophysitis
is_a: MONDO:0024468 ! anterior pituitary gland disease
property_value: exactMatch Orphanet:95512

[Term]
id: MONDO:0019839
name: panhypophysitis
subset: ordo_disease {source="Orphanet:95513"}
synonym: "Infundibulo-panhypophysitis" EXACT [Orphanet:95513]
xref: ICD10:E23.6 {source="ORDO:95513/ntbt", source="Orphanet:95513"}
xref: Orphanet:95513 {source="MONDO:equivalentTo"}
is_a: MONDO:0019835 {source="Orphanet:95513"} ! primary hypophysitis
property_value: exactMatch Orphanet:95513

[Term]
id: MONDO:0019840
name: acropectororenal dysplasia
def: "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly (see this term), that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." [Orphanet:956]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:956"}
synonym: "acro-pectoro-renal field defect" RELATED [GARD:0000511]
synonym: "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" RELATED [GARD:0000511]
xref: GARD:0000511 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.8 {source="Orphanet:956", source="ORDO:956/attributed", source="ORDO:956/ntbt"}
xref: Orphanet:956 {source="MONDO:equivalentTo", source="GARD:0000511"}
xref: SCTID:720413004 {source="MONDO:kboom-pr-0.99/0.73/5.25", source="MONDO:equivalentTo"}
is_a: MONDO:0015856 {source="Orphanet:956"} ! syndromic breast hypoplasia/aplasia
is_a: MONDO:0017434 {source="Orphanet:956"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
is_a: MONDO:0019721 {source="Orphanet:956"} ! syndromic renal or urinary tract malformation
property_value: exactMatch http://identifiers.org/snomedct/720413004
property_value: exactMatch Orphanet:956
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect xsd:anyURI {source="GARD:0000511"}

[Term]
id: MONDO:0019841
name: pituitary hormone defiency from vascular origin
subset: ordo_group_of_disorders {source="Orphanet:95611"}
xref: ICD10:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="ORDO:95611/ntbt"}
xref: Orphanet:95611 {source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:95611"} ! acquired pituitary hormone deficiency
property_value: exactMatch Orphanet:95611

[Term]
id: MONDO:0019842
name: obsolete pituitary apoplexy
is_obsolete: true
replaced_by: MONDO:0006908

[Term]
id: MONDO:0019843
name: pituitary hormone deficiency secondary to a granulomatous disease
subset: ordo_group_of_disorders {source="Orphanet:95617"}
xref: Orphanet:95617 {source="MONDO:equivalentTo"}
xref: UMLS:CN206787 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:95617"} ! acquired pituitary hormone deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206787
property_value: exactMatch Orphanet:95617

[Term]
id: MONDO:0019844
name: pituitary hormone deficiency secondary to storage disease
comment: Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120
subset: ordo_group_of_disorders {source="Orphanet:95618"}
xref: Orphanet:95618 {source="MONDO:equivalentTo"}
xref: UMLS:CN206788 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015127 {source="MONDO:cjm", source="Orphanet:95618/inferred"} ! pituitary deficiency
relationship: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618"} ! acquired pituitary hormone deficiency
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206788
property_value: exactMatch Orphanet:95618

[Term]
id: MONDO:0019845
name: iatrogenic or traumatic pituitary deficiency
subset: ordo_disease {source="Orphanet:95619"}
xref: ICD10:E23.1 {source="ORDO:95619/ntbt", source="Orphanet:95619"}
xref: Orphanet:95619 {source="MONDO:equivalentTo"}
is_a: MONDO:0019832 {source="Orphanet:95619"} ! acquired pituitary hormone deficiency
property_value: exactMatch Orphanet:95619

[Term]
id: MONDO:0019846
name: acquired central diabetes insipidus
def: "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI, see this term), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." [Orphanet:95626]
subset: ordo_clinical_subtype {source="Orphanet:95626"}
synonym: "acquired CDI" EXACT [Orphanet:95626]
synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired]
synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626]
xref: ICD10:E23.2 {source="MONDO:relatedTo", source="ORDO:95626/ntbt", source="Orphanet:95626"}
xref: Orphanet:95626 {source="MONDO:equivalentTo"}
is_a: MONDO:0015790 {source="MONDO:Redundant", source="Orphanet:95626"} ! central diabetes insipidus
intersection_of: MONDO:0015790 ! central diabetes insipidus
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch Orphanet:95626

[Term]
id: MONDO:0019847
name: congenital adrenal hypoplasia of maternal cause
subset: ordo_disease {source="Orphanet:95701"}
xref: ICD10:E27.1 {source="ORDO:95701/ntbt", source="Orphanet:95701"}
xref: Orphanet:95701 {source="MONDO:equivalentTo"}
is_a: MONDO:0015130 {source="Orphanet:95701"} ! acquired chronic primary adrenal insufficiency
property_value: exactMatch Orphanet:95701

[Term]
id: MONDO:0019848
name: posterior hypospadias
def: "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." [Orphanet:95706]
subset: ordo_morphological_anomaly {source="Orphanet:95706"}
synonym: "perineal, scrotal or penoscrotal hypospadias" EXACT [Orphanet:95706]
xref: ICD10:Q54.2 {source="ORDO:95706/btnt", source="Orphanet:95706"}
xref: ICD10:Q54.3 {source="ORDO:95706/btnt", source="Orphanet:95706"}
xref: Orphanet:95706 {source="MONDO:equivalentTo"}
is_a: MONDO:0015933 {source="Orphanet:95706"} ! non-syndromic urogenital tract malformation of male
property_value: exactMatch Orphanet:95706

[Term]
id: MONDO:0019849
name: isolated micropenis
subset: ordo_morphological_anomaly {source="Orphanet:95707"}
xref: ICD10:Q55.6 {source="ORDO:95707/ntbt", source="Orphanet:95707"}
xref: Orphanet:95707 {source="MONDO:equivalentTo"}
is_a: MONDO:0015933 {source="Orphanet:95707"} ! non-syndromic urogenital tract malformation of male
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266435
property_value: exactMatch Orphanet:95707

[Term]
id: MONDO:0019850
name: obsolete precocious puberty
is_obsolete: true
replaced_by: MONDO:0000088

[Term]
id: MONDO:0019851
name: acquired primary ovarian failure
def: "An instance of primary ovarian failure that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:95709"}
synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709]
synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired]
xref: ICD10:E28.8 {source="Orphanet:95709", source="ORDO:95709/attributed", source="ORDO:95709/ntbt"}
xref: Orphanet:95709 {source="MONDO:equivalentTo"}
xref: SCTID:717954003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.32"}
xref: UMLS:C4303540 {source="MONDO:equivalentTo"}
is_a: MONDO:0005387 ! primary ovarian failure
is_a: MONDO:0015860 {source="MONDO:Redundant", source="Orphanet:95709"} ! anomaly of puberty or/and menstrual cycle
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0015514 {source="Orphanet:95709"} ! genetic endocrine growth disease
relationship: excluded_subClassOf MONDO:0019590 {source="Orphanet:95709"} ! rare endocrine growth disease
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/717954003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303540
property_value: exactMatch Orphanet:95709

[Term]
id: MONDO:0019852
name: inherited primary ovarian failure
def: "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:95710"}
synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary]
synonym: "non-acquired premature ovarian failure" RELATED []
xref: ICD10:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="ORDO:95710/attributed", source="ORDO:95710/ntbt"}
xref: Orphanet:95710 {source="MONDO:equivalentTo"}
is_a: MONDO:0005387 ! primary ovarian failure
is_a: MONDO:0015514 {source="Orphanet:95710"} ! genetic endocrine growth disease
is_a: MONDO:0016072 {source="MONDO:Redundant", source="Orphanet:95710"} ! anomaly of puberty or/and menstrual cycle of genetic origin
is_a: MONDO:0019590 {source="Orphanet:95710"} ! rare endocrine growth disease
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:95710

[Term]
id: MONDO:0019853
name: congenital hypothyroidism due to developmental anomaly
def: "Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." [Orphanet:95711]
comment: Editor note: fix definition
subset: ordo_group_of_disorders {source="Orphanet:95711"}
synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711]
xref: ICD10:E03.1 {source="ORDO:95711/attributed", source="ORDO:95711/ntbt", source="Orphanet:95711"}
xref: Orphanet:95711 {source="MONDO:equivalentTo"}
is_a: MONDO:0016409 {source="Orphanet:95711"} ! primary congenital hypothyroidism
property_value: exactMatch Orphanet:95711

[Term]
id: MONDO:0019854
name: thyroid ectopia
def: "Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." [Orphanet:95712]
subset: ordo_morphological_anomaly {source="Orphanet:95712"}
xref: ICD10:E03.1 {source="ORDO:95712/attributed", source="ORDO:95712/ntbt", source="Orphanet:95712"}
xref: Orphanet:95712 {source="MONDO:equivalentTo"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
is_a: MONDO:0019853 {source="Orphanet:95712"} ! congenital hypothyroidism due to developmental anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266283
property_value: exactMatch Orphanet:95712

[Term]
id: MONDO:0019855
name: athyreosis
def: "Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." [Orphanet:95713]
subset: ordo_morphological_anomaly {source="Orphanet:95713"}
xref: ICD10:E03.1 {source="ORDO:95713/attributed", source="ORDO:95713/ntbt", source="Orphanet:95713"}
xref: Orphanet:95713 {source="MONDO:equivalentTo"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
is_a: MONDO:0019853 {source="Orphanet:95713"} ! congenital hypothyroidism due to developmental anomaly
property_value: exactMatch Orphanet:95713

[Term]
id: MONDO:0019856
name: primary congenital hypothyroidism without thyroid developmental anomaly
def: "Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." [Orphanet:95714]
subset: ordo_group_of_disorders {source="Orphanet:95714"}
xref: ICD10:E03.0 {source="ORDO:95714/attributed", source="ORDO:95714/ntbt", source="Orphanet:95714"}
xref: ICD10:E03.1 {source="ORDO:95714/attributed", source="ORDO:95714/ntbt", source="Orphanet:95714"}
xref: Orphanet:95714 {source="MONDO:equivalentTo"}
is_a: MONDO:0016409 {source="Orphanet:95714"} ! primary congenital hypothyroidism
property_value: exactMatch Orphanet:95714

[Term]
id: MONDO:0019857
name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
def: "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent." [Orphanet:95715]
subset: ordo_disease {source="Orphanet:95715"}
xref: ICD10:P72.2 {source="ORDO:95715/ntbt", source="Orphanet:95715"}
xref: Orphanet:95715 {source="MONDO:equivalentTo"}
xref: SCTID:717333002 {source="MONDO:equivalentTo"}
xref: UMLS:C4273914 {source="MONDO:equivalentTo"}
is_a: MONDO:0016555 {source="Orphanet:95715"} ! transient congenital hypothyroidism due to maternal factor
property_value: exactMatch http://identifiers.org/snomedct/717333002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273914
property_value: exactMatch Orphanet:95715

[Term]
id: MONDO:0019858
name: idiopathic congenital hypothyroidism
def: "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown." [Orphanet:95717]
subset: ordo_disease {source="Orphanet:95717"}
xref: ICD10:E03.1 {source="ORDO:95717/attributed", source="ORDO:95717/ntbt", source="Orphanet:95717"}
xref: Orphanet:95717 {source="MONDO:equivalentTo"}
xref: SCTID:717334008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273913 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019856 {source="Orphanet:95717"} ! primary congenital hypothyroidism without thyroid developmental anomaly
property_value: exactMatch http://identifiers.org/snomedct/717334008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273913
property_value: exactMatch Orphanet:95717

[Term]
id: MONDO:0019859
name: congenital thyroid malformation without hypothyroidism
subset: ordo_group_of_disorders {source="Orphanet:95718"}
xref: ICD10:Q89.2 {source="ORDO:95718/ntbt", source="Orphanet:95718"}
xref: Orphanet:95718 {source="MONDO:equivalentTo"}
is_a: MONDO:0003240 {source="Orphanet:95718"} ! thyroid gland disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015125"} ! rare
property_value: exactMatch Orphanet:95718

[Term]
id: MONDO:0019860
name: thyroid hemiagenesis
def: "Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." [Orphanet:95719]
subset: ordo_morphological_anomaly {source="Orphanet:95719"}
xref: ICD10:E03.1 {source="ORDO:95719/attributed", source="ORDO:95719/ntbt", source="Orphanet:95719"}
xref: Orphanet:95719 {source="MONDO:equivalentTo"}
xref: SCTID:715734006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4023190 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
is_a: MONDO:0019853 {source="Orphanet:95719"} ! congenital hypothyroidism due to developmental anomaly
is_a: MONDO:0019859 {source="Orphanet:95719"} ! congenital thyroid malformation without hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/715734006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4023190
property_value: exactMatch Orphanet:95719

[Term]
id: MONDO:0019861
name: thyroid hypoplasia
def: "Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." [Orphanet:95720]
subset: ordo_morphological_anomaly {source="Orphanet:95720"}
xref: ICD10:E03.1 {source="Orphanet:95720", source="ORDO:95720/attributed", source="ORDO:95720/ntbt"}
xref: MedDRA:10065938 {source="ORDO:95720/e", source="Orphanet:95720"}
xref: Orphanet:95720 {source="MONDO:equivalentTo"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
is_a: MONDO:0019853 {source="Orphanet:95720"} ! congenital hypothyroidism due to developmental anomaly
is_a: MONDO:0019859 {source="Orphanet:95720"} ! congenital thyroid malformation without hypothyroidism
property_value: exactMatch http://identifiers.org/meddra/10065938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151516
property_value: exactMatch Orphanet:95720

[Term]
id: MONDO:0019862
name: levocardia
def: "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." [NCIT:C111647]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:95854"}
synonym: "Isolated levocardia with situs inversus" NARROW [GARD:0012032]
synonym: "levocardia-situs inversus" EXACT [Orphanet:95854]
synonym: "Situs inversus with levocardia" NARROW [GARD:0012032]
xref: GARD:0012032 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.1 {source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854"}
xref: MedDRA:10071015 {source="ORDO:95854/e", source="Orphanet:95854"}
xref: MESH:D007979 {source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854", source="MONDO:ontobio"}
xref: NCIT:C111647 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: Orphanet:95854 {source="MONDO:equivalentTo"}
xref: SCTID:205769006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.74/5.63"}
xref: UMLS:C0023569 {source="NCIT:C111647", source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854"}
is_a: MONDO:0018677 {source="Orphanet:95854"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/meddra/10071015
property_value: exactMatch http://identifiers.org/mesh/D007979
property_value: exactMatch http://identifiers.org/snomedct/205769006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023569
property_value: exactMatch NCIT:C111647
property_value: exactMatch Orphanet:95854

[Term]
id: MONDO:0019863
name: acro-renal-ocular syndrome
def: "related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." [Orphanet:959]
subset: ordo_malformation_syndrome {source="Orphanet:959"}
xref: ICD10:Q87.8 {source="ORDO:959/attributed", source="ORDO:959/ntbt", source="Orphanet:959"}
xref: Orphanet:959 {source="MONDO:equivalentTo"}
xref: SCTID:720415006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.37/0.09"}
xref: UMLS:CN206803 {source="MONDO:equivalentTo"}
is_a: MONDO:0011812 ! Duane-radial ray syndrome
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:959"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/720415006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206803
property_value: exactMatch Orphanet:959

[Term]
id: MONDO:0019864
name: tetrasomy 21
def: "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." [Orphanet:96055]
subset: gard_rare {source="GARD:0012480"}
subset: ordo_malformation_syndrome {source="Orphanet:96055"}
synonym: "Isochromosome 21" EXACT [Orphanet:96055]
synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055]
xref: GARD:0012480 {source="MONDO:equivalentTo"}
xref: ICD10:Q99.8 {source="ORDO:96055/attributed", source="ORDO:96055/ntbt", source="Orphanet:96055"}
xref: Orphanet:96055 {source="MONDO:equivalentTo"}
xref: SCTID:764690001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020052 {source="Orphanet:96055"} ! partial autosomal trisomy/tetrasomy
is_a: MONDO:0030502 ! tetrasomy
property_value: exactMatch http://identifiers.org/snomedct/764690001
property_value: exactMatch Orphanet:96055
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 xsd:anyURI {source="GARD:0012480"}

[Term]
id: MONDO:0019865
name: mosaic trisomy 4
def: "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." [Orphanet:96059]
subset: ordo_malformation_syndrome {source="Orphanet:96059"}
synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059]
synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059]
synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059]
xref: ICD10:Q92.1 {source="Orphanet:96059", source="ORDO:96059/attributed", source="ORDO:96059/ntbt"}
xref: Orphanet:96059 {source="MONDO:equivalentTo"}
xref: SCTID:764628000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:96059"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/snomedct/764628000
property_value: exactMatch Orphanet:96059

[Term]
id: MONDO:0019866
name: mosaic trisomy 5
def: "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." [Orphanet:96060]
subset: ordo_malformation_syndrome {source="Orphanet:96060"}
synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060]
synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060]
synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060]
xref: ICD10:Q92.1 {source="ORDO:96060/attributed", source="ORDO:96060/ntbt", source="Orphanet:96060"}
xref: MESH:C537762 {source="MONDO:equivalentTo"}
xref: Orphanet:96060 {source="MONDO:equivalentTo"}
xref: SCTID:764629008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:96060"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C537762
property_value: exactMatch http://identifiers.org/snomedct/764629008
property_value: exactMatch Orphanet:96060

[Term]
id: MONDO:0019867
name: mosaic trisomy 8
def: "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." [Orphanet:96061]
subset: gard_rare {source="GARD:0005359"}
subset: ordo_malformation_syndrome {source="Orphanet:96061"}
synonym: "Mosaic trisomy chromosome 8" RELATED [GARD:0005359]
synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061]
synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359]
synonym: "Warkany syndrome" EXACT [Orphanet:96061]
xref: GARD:0005359 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="ORDO:96061/attributed", source="ORDO:96061/ntbt", source="Orphanet:96061"}
xref: MedDRA:10053916 {source="ORDO:96061/e", source="Orphanet:96061"}
xref: MESH:C537940 {source="MONDO:equivalentTo", source="ORDO:96061/e", source="Orphanet:96061"}
xref: Orphanet:96061 {source="MONDO:equivalentTo"}
xref: SCTID:717335009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"}
is_a: MONDO:0020051 {source="Orphanet:96061"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/meddra/10053916
property_value: exactMatch http://identifiers.org/mesh/C537940
property_value: exactMatch http://identifiers.org/snomedct/717335009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096527
property_value: exactMatch Orphanet:96061
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 xsd:anyURI {source="GARD:0005359"}

[Term]
id: MONDO:0019868
name: mosaic trisomy 10
def: "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." [Orphanet:96063]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:96063"}
synonym: "chromosome 10, uniparental disomy" RELATED [GARD:0005406]
synonym: "mosaic trisomy 10" EXACT [GARD:0005406]
synonym: "Mosaic trisomy chromosome 10" EXACT [Orphanet:96063]
synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063]
synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063]
synonym: "uniparental disomy of 10" RELATED [GARD:0005406]
xref: GARD:0005406 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="ORDO:96063/attributed", source="ORDO:96063/ntbt", source="Orphanet:96063"}
xref: MESH:C538292 {source="MONDO:equivalentTo"}
xref: Orphanet:96063 {source="MONDO:equivalentTo"}
xref: SCTID:764461004 {source="MONDO:equivalentTo"}
xref: UMLS:CN035866 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:96063"} ! total autosomal trisomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931794
property_value: exactMatch http://identifiers.org/mesh/C538292
property_value: exactMatch http://identifiers.org/snomedct/764461004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035866
property_value: exactMatch Orphanet:96063

[Term]
id: MONDO:0019869
name: mosaic trisomy 22
def: "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended ( cubitus valgus ), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." [https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22]
subset: gard_rare {source="GARD:0006085"}
subset: ordo_malformation_syndrome {source="Orphanet:96068"}
synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085]
synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068]
synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085]
xref: GARD:0006085 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="Orphanet:96068", source="ORDO:96068/attributed", source="ORDO:96068/ntbt"}
xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:96068/e"}
xref: Orphanet:96068 {source="MONDO:equivalentTo"}
xref: SCTID:764625002 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:96068"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C536796
property_value: exactMatch http://identifiers.org/snomedct/764625002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931326
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931327
property_value: exactMatch Orphanet:96068
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 xsd:anyURI {source="GARD:0006085"}

[Term]
id: MONDO:0019870
name: distal trisomy 1p36
def: "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." [Orphanet:96069]
subset: ordo_malformation_syndrome {source="Orphanet:96069"}
synonym: "distal duplication 1p36" EXACT [Orphanet:96069]
synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7, Orphanet:96069]
synonym: "telomeric duplication 1p36" EXACT [Orphanet:96069]
synonym: "trisomy 1pter" EXACT [Orphanet:96069]
xref: ICD10:Q92.3 {source="Orphanet:96069", source="ORDO:96069/attributed", source="ORDO:96069/ntbt"}
xref: Orphanet:96069 {source="MONDO:equivalentTo"}
xref: SCTID:766053003 {source="MONDO:equivalentTo"}
xref: UMLS:CN244049 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017012 {source="Orphanet:96069"} ! partial duplication of the short arm of chromosome 1
property_value: exactMatch http://identifiers.org/snomedct/766053003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244049
property_value: exactMatch Orphanet:96069

[Term]
id: MONDO:0019871
name: distal trisomy 2p
def: "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." [Orphanet:96070]
subset: ordo_malformation_syndrome {source="Orphanet:96070"}
synonym: "distal duplication 2p" EXACT [Orphanet:96070]
synonym: "distal trisomy type 2p" EXACT [MONDORULE:4, Orphanet:96070]
synonym: "telomeric duplication 2p" EXACT [Orphanet:96070]
synonym: "trisomy 2pter" EXACT [Orphanet:96070]
xref: ICD10:Q92.3 {source="ORDO:96070/attributed", source="ORDO:96070/ntbt", source="Orphanet:96070"}
xref: Orphanet:96070 {source="MONDO:equivalentTo"}
xref: SCTID:764518004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016939 {source="MONDOLEX:0019871", source="Orphanet:96070"} ! partial duplication of the short arm of chromosome 2
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96070"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/snomedct/764518004
property_value: exactMatch Orphanet:96070

[Term]
id: MONDO:0019872
name: distal trisomy 3p
def: "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." [Orphanet:96071]
subset: ordo_malformation_syndrome {source="Orphanet:96071"}
synonym: "distal duplication 3p" EXACT [Orphanet:96071]
synonym: "distal trisomy type 3p" EXACT [MONDORULE:4, Orphanet:96071]
synonym: "telomeric duplication 3p" EXACT [Orphanet:96071]
synonym: "trisomy 3pter" EXACT [Orphanet:96071]
xref: ICD10:Q92.3 {source="ORDO:96071/attributed", source="ORDO:96071/ntbt", source="Orphanet:96071"}
xref: Orphanet:96071 {source="MONDO:equivalentTo"}
xref: SCTID:764519007 {source="MONDO:equivalentTo"}
is_a: MONDO:0016940 {source="MONDOLEX:0019872", source="Orphanet:96071"} ! partial duplication of the short arm of chromosome 3
property_value: exactMatch http://identifiers.org/snomedct/764519007
property_value: exactMatch Orphanet:96071

[Term]
id: MONDO:0019873
name: 4p16.3 microduplication syndrome
def: "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." [Orphanet:96072]
subset: ordo_malformation_syndrome {source="Orphanet:96072"}
synonym: "distal duplication 4p" EXACT [Orphanet:96072]
synonym: "distal trisomy 4p" EXACT [Orphanet:96072]
synonym: "telomeric duplication 4p" EXACT [Orphanet:96072]
synonym: "trisomy 4pter" EXACT [Orphanet:96072]
xref: ICD10:Q92.3 {source="ORDO:96072/attributed", source="ORDO:96072/ntbt", source="Orphanet:96072"}
xref: Orphanet:96072 {source="MONDO:equivalentTo"}
xref: SCTID:726706008 {source="MONDO:equivalentTo"}
xref: UMLS:C4512053 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr93-c94"}
xref: UMLS:CN206808 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016941 {source="Orphanet:96072"} ! partial duplication of the short arm of chromosome 4
is_a: MONDO:0019717 {source="Orphanet:96072"} ! chromosomal disease with overgrowth
property_value: exactMatch http://identifiers.org/snomedct/726706008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4512053
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206808
property_value: exactMatch Orphanet:96072

[Term]
id: MONDO:0019874
name: distal trisomy 7p
def: "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." [Orphanet:96074]
subset: ordo_malformation_syndrome {source="Orphanet:96074"}
synonym: "distal duplication 7p" EXACT [Orphanet:96074]
synonym: "distal trisomy type 7p" EXACT [MONDORULE:4, Orphanet:96074]
synonym: "telomeric duplication 7p" EXACT [Orphanet:96074]
synonym: "trisomy 7pter" EXACT [Orphanet:96074]
xref: ICD10:Q92.3 {source="ORDO:96074/attributed", source="ORDO:96074/ntbt", source="Orphanet:96074"}
xref: Orphanet:96074 {source="MONDO:equivalentTo"}
xref: SCTID:763276000 {source="MONDO:equivalentTo"}
is_a: MONDO:0016944 {source="MONDOLEX:0019874", source="Orphanet:96074"} ! partial duplication of the short arm of chromosome 7
property_value: exactMatch http://identifiers.org/snomedct/763276000
property_value: exactMatch Orphanet:96074

[Term]
id: MONDO:0019875
name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
subset: ordo_etiological_subtype {source="Orphanet:96076"}
xref: ICD10:Q87.3 {source="ORDO:96076/attributed", source="ORDO:96076/ntbt", source="Orphanet:96076"}
xref: Orphanet:96076 {source="MONDO:equivalentTo"}
xref: UMLS:CN206810 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0019875", source="Orphanet:96076"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0016948 {source="Orphanet:96076"} ! partial duplication of the short arm of chromosome 11
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206810
property_value: exactMatch Orphanet:96076

[Term]
id: MONDO:0019876
name: 8p inverted duplication/deletion syndrome
def: "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." [Orphanet:96092]
subset: ordo_malformation_syndrome {source="Orphanet:96092"}
synonym: "Invdupdel(8p)" EXACT [Orphanet:96092]
synonym: "inverted 8p duplication/deletion syndrome" EXACT [Orphanet:96092]
xref: ICD10:Q99.8 {source="ORDO:96092/attributed", source="ORDO:96092/ntbt", source="Orphanet:96092"}
xref: Orphanet:96092 {source="MONDO:equivalentTo"}
xref: SCTID:718188007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:CN206812 {source="MONDO:equivalentTo"}
is_a: MONDO:0016998 {source="Orphanet:96092"} ! complex chromosomal rearrangement
property_value: exactMatch http://identifiers.org/snomedct/718188007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206812
property_value: exactMatch Orphanet:96092

[Term]
id: MONDO:0019877
name: distal trisomy 2q
def: "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." [Orphanet:96094]
subset: ordo_malformation_syndrome {source="Orphanet:96094"}
synonym: "distal duplication 2q" EXACT [Orphanet:96094]
synonym: "distal trisomy type 2q" EXACT [MONDORULE:4, Orphanet:96094]
synonym: "telomeric duplication 2q" EXACT [Orphanet:96094]
synonym: "trisomy 2qter" EXACT [Orphanet:96094]
xref: ICD10:Q92.3 {source="ORDO:96094/attributed", source="ORDO:96094/ntbt", source="Orphanet:96094"}
xref: Orphanet:96094 {source="MONDO:equivalentTo"}
xref: SCTID:763272003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016953 {source="MONDOLEX:0019877", source="Orphanet:96094"} ! partial duplication of the long arm of chromosome 2
property_value: exactMatch http://identifiers.org/snomedct/763272003
property_value: exactMatch Orphanet:96094

[Term]
id: MONDO:0019878
name: 3q26 microduplication syndrome
def: "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." [Orphanet:96095]
subset: ordo_malformation_syndrome {source="Orphanet:96095"}
synonym: "Cornelia de Lange-like syndrome" EXACT [Orphanet:96095]
synonym: "dup(3)(q26)" EXACT [Orphanet:96095]
synonym: "dup(3q) syndrome" EXACT [Orphanet:96095]
synonym: "trisomy 3q26" EXACT [Orphanet:96095]
xref: ICD10:Q92.3 {source="ORDO:96095/attributed", source="ORDO:96095/ntbt", source="Orphanet:96095"}
xref: Orphanet:96095 {source="MONDO:equivalentTo"}
xref: UMLS:CN206814 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016954 {source="MONDOLEX:0019878", source="Orphanet:96095"} ! partial duplication of the long arm of chromosome 3
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96095"} ! chromosomal anomaly with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206814
property_value: exactMatch Orphanet:96095

[Term]
id: MONDO:0019879
name: distal trisomy 4q
def: "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." [Orphanet:96096]
subset: ordo_malformation_syndrome {source="Orphanet:96096"}
synonym: "distal duplication 4q" EXACT [Orphanet:96096]
synonym: "distal trisomy type 4q" EXACT [MONDORULE:4, Orphanet:96096]
synonym: "telomeric duplication 4q" EXACT [Orphanet:96096]
synonym: "trisomy 4qter" EXACT [Orphanet:96096]
xref: ICD10:Q92.3 {source="ORDO:96096/attributed", source="ORDO:96096/ntbt", source="Orphanet:96096"}
xref: Orphanet:96096 {source="MONDO:equivalentTo"}
xref: SCTID:763273008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016955 {source="MONDOLEX:0019879", source="Orphanet:96096"} ! partial duplication of the long arm of chromosome 4
property_value: exactMatch http://identifiers.org/snomedct/763273008
property_value: exactMatch Orphanet:96096

[Term]
id: MONDO:0019880
name: distal trisomy 5q
def: "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." [Orphanet:96097]
subset: ordo_malformation_syndrome {source="Orphanet:96097"}
synonym: "distal duplication 5q" EXACT [Orphanet:96097]
synonym: "distal trisomy type 5q" EXACT [MONDORULE:4, Orphanet:96097]
synonym: "telomeric duplication 5q" EXACT [Orphanet:96097]
synonym: "trisomy 5qter" EXACT [Orphanet:96097]
xref: ICD10:Q92.3 {source="ORDO:96097/attributed", source="ORDO:96097/ntbt", source="Orphanet:96097"}
xref: Orphanet:96097 {source="MONDO:equivalentTo"}
xref: SCTID:763274002 {source="MONDO:equivalentTo"}
is_a: MONDO:0016956 {source="Orphanet:96097"} ! partial trisomy of the long arm of chromosome 5
property_value: exactMatch http://identifiers.org/snomedct/763274002
property_value: exactMatch Orphanet:96097

[Term]
id: MONDO:0019881
name: distal trisomy 6q
def: "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." [Orphanet:96098]
subset: ordo_malformation_syndrome {source="Orphanet:96098"}
synonym: "distal duplication 6q" EXACT [Orphanet:96098]
synonym: "distal trisomy type 6q" EXACT [MONDORULE:4, Orphanet:96098]
synonym: "telomeric duplication 6q" EXACT [Orphanet:96098]
synonym: "trisomy 6qter" EXACT [Orphanet:96098]
xref: ICD10:Q92.3 {source="ORDO:96098/attributed", source="ORDO:96098/ntbt", source="Orphanet:96098"}
xref: MESH:C537810 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:96098 {source="MONDO:equivalentTo"}
xref: SCTID:763275001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016957 {source="MONDOLEX:0019881", source="Orphanet:96098"} ! partial duplication of the long arm of chromosome 6
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0795817
property_value: exactMatch http://identifiers.org/mesh/C537810
property_value: exactMatch http://identifiers.org/snomedct/763275001
property_value: exactMatch Orphanet:96098

[Term]
id: MONDO:0019882
name: distal trisomy 8q
def: "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." [Orphanet:96100]
subset: ordo_malformation_syndrome {source="Orphanet:96100"}
synonym: "distal duplication 8q" EXACT [Orphanet:96100]
synonym: "distal trisomy type 8q" EXACT [MONDORULE:4, Orphanet:96100]
synonym: "telomeric duplication 8q" EXACT [Orphanet:96100]
synonym: "trisomy 8qter" EXACT [Orphanet:96100]
xref: ICD10:Q92.3 {source="Orphanet:96100", source="ORDO:96100/attributed", source="ORDO:96100/ntbt"}
xref: Orphanet:96100 {source="MONDO:equivalentTo"}
xref: SCTID:763277009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016959 {source="Orphanet:96100"} ! partial duplication of the long arm of chromosome 8
property_value: exactMatch http://identifiers.org/snomedct/763277009
property_value: exactMatch Orphanet:96100

[Term]
id: MONDO:0019883
name: distal trisomy 9q
def: "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." [Orphanet:96101]
subset: ordo_malformation_syndrome {source="Orphanet:96101"}
synonym: "distal duplication 9q" EXACT [Orphanet:96101]
synonym: "distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96101]
synonym: "telomeric duplication 9q" EXACT [Orphanet:96101]
synonym: "trisomy 9qter" EXACT [Orphanet:96101]
xref: ICD10:Q92.3 {source="Orphanet:96101", source="ORDO:96101/attributed", source="ORDO:96101/ntbt"}
xref: Orphanet:96101 {source="MONDO:equivalentTo"}
xref: SCTID:764520001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016960 {source="Orphanet:96101"} ! partial trisomy of the long arm of chromosome 9
property_value: exactMatch http://identifiers.org/snomedct/764520001
property_value: exactMatch Orphanet:96101

[Term]
id: MONDO:0019884
name: distal trisomy 10q
def: "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." [Orphanet:96102]
subset: ordo_malformation_syndrome {source="Orphanet:96102"}
synonym: "distal duplication 10q" EXACT [Orphanet:96102]
synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102]
synonym: "telomeric duplication 10q" EXACT [Orphanet:96102]
synonym: "trisomy 10qter" EXACT [Orphanet:96102]
xref: ICD10:Q92.3 {source="Orphanet:96102", source="ORDO:96102/attributed", source="ORDO:96102/ntbt"}
xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:96102/e"}
xref: Orphanet:96102 {source="MONDO:equivalentTo"}
xref: SCTID:718689000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016961 {source="Orphanet:96102"} ! partial duplication of the long arm of chromosome 10
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96102"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/mesh/C538087
property_value: exactMatch http://identifiers.org/snomedct/718689000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931728
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931731
property_value: exactMatch Orphanet:96102

[Term]
id: MONDO:0019885
name: distal trisomy 11q
def: "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." [Orphanet:96103]
subset: ordo_malformation_syndrome {source="Orphanet:96103"}
synonym: "distal duplication 11q" EXACT [Orphanet:96103]
synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103]
synonym: "telomeric duplication 11q" EXACT [Orphanet:96103]
synonym: "trisomy 11qter" EXACT [Orphanet:96103]
xref: ICD10:Q92.3 {source="Orphanet:96103", source="ORDO:96103/attributed", source="ORDO:96103/ntbt"}
xref: MESH:C538294 {source="ORDO:96103/e", source="Orphanet:96103", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:96103 {source="MONDO:equivalentTo"}
xref: SCTID:764447009 {source="MONDO:equivalentTo"}
is_a: MONDO:0016962 {source="MONDOLEX:0019885", source="Orphanet:96103"} ! partial duplication of the long arm of chromosome 11
property_value: exactMatch http://identifiers.org/mesh/C538294
property_value: exactMatch http://identifiers.org/snomedct/764447009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931797
property_value: exactMatch Orphanet:96103

[Term]
id: MONDO:0019886
name: distal trisomy 13q
def: "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." [Orphanet:96105]
subset: ordo_malformation_syndrome {source="Orphanet:96105"}
synonym: "distal duplication 13q" EXACT [Orphanet:96105]
synonym: "distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:96105]
synonym: "telomeric duplication 13q" EXACT [Orphanet:96105]
synonym: "trisomy 13qter" EXACT [Orphanet:96105]
xref: ICD10:Q92.3 {source="Orphanet:96105", source="ORDO:96105/attributed", source="ORDO:96105/ntbt"}
xref: Orphanet:96105 {source="MONDO:equivalentTo"}
xref: SCTID:764454003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016963 {source="Orphanet:96105"} ! partial duplication of the long arm of chromosome 13
property_value: exactMatch http://identifiers.org/snomedct/764454003
property_value: exactMatch Orphanet:96105

[Term]
id: MONDO:0019887
name: distal trisomy 16q
def: "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." [Orphanet:96106]
subset: ordo_malformation_syndrome {source="Orphanet:96106"}
synonym: "distal duplication 16q" EXACT [Orphanet:96106]
synonym: "distal trisomy type 16q" EXACT [MONDORULE:4, Orphanet:96106]
synonym: "telomeric duplication 16q" EXACT [Orphanet:96106]
synonym: "trisomy 16qter" EXACT [Orphanet:96106]
xref: ICD10:Q92.3 {source="Orphanet:96106", source="ORDO:96106/attributed", source="ORDO:96106/ntbt"}
xref: Orphanet:96106 {source="MONDO:equivalentTo"}
xref: SCTID:764459008 {source="MONDO:equivalentTo"}
is_a: MONDO:0016966 {source="MONDOLEX:0019887", source="Orphanet:96106"} ! partial trisomy of the long arm of chromosome 16
property_value: exactMatch http://identifiers.org/snomedct/764459008
property_value: exactMatch Orphanet:96106

[Term]
id: MONDO:0019888
name: distal trisomy 20q
def: "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." [Orphanet:96107]
subset: ordo_malformation_syndrome {source="Orphanet:96107"}
synonym: "distal duplication 20q" EXACT [Orphanet:96107]
synonym: "distal trisomy type 20q" EXACT [MONDORULE:4, Orphanet:96107]
synonym: "telomeric duplication 20q" EXACT [Orphanet:96107]
synonym: "trisomy 20qter" EXACT [Orphanet:96107]
xref: ICD10:Q92.3 {source="ORDO:96107/attributed", source="ORDO:96107/ntbt", source="Orphanet:96107"}
xref: Orphanet:96107 {source="MONDO:equivalentTo"}
xref: SCTID:764500002 {source="MONDO:equivalentTo"}
is_a: MONDO:0016970 {source="Orphanet:96107"} ! partial trisomy of the long arm of chromosome 20
property_value: exactMatch http://identifiers.org/snomedct/764500002
property_value: exactMatch Orphanet:96107

[Term]
id: MONDO:0019889
name: distal trisomy 22q
def: "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." [Orphanet:96109]
subset: ordo_malformation_syndrome {source="Orphanet:96109"}
synonym: "distal duplication 22q" EXACT [Orphanet:96109]
synonym: "distal trisomy type 22q" EXACT [MONDORULE:4, Orphanet:96109]
synonym: "telomeric duplication 22q" EXACT [Orphanet:96109]
synonym: "trisomy 22qter" EXACT [Orphanet:96109]
xref: ICD10:Q92.3 {source="ORDO:96109/attributed", source="ORDO:96109/ntbt", source="Orphanet:96109"}
xref: Orphanet:96109 {source="MONDO:equivalentTo"}
xref: SCTID:764512003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016972 {source="Orphanet:96109"} ! partial duplication of the long arm of chromosome 22
property_value: exactMatch http://identifiers.org/snomedct/764512003
property_value: exactMatch Orphanet:96109

[Term]
id: MONDO:0019890
name: non-distal trisomy 9q
def: "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." [Orphanet:96112]
subset: ordo_malformation_syndrome {source="Orphanet:96112"}
synonym: "non-distal duplication 9q" EXACT [Orphanet:96112]
synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96112]
synonym: "non-telomeric trisomy 9q" EXACT [Orphanet:96112]
xref: ICD10:Q92.3 {source="Orphanet:96112", source="ORDO:96112/attributed", source="ORDO:96112/ntbt"}
xref: Orphanet:96112 {source="MONDO:equivalentTo"}
xref: SCTID:764997000 {source="MONDO:equivalentTo"}
is_a: MONDO:0016960 {source="Orphanet:96112"} ! partial trisomy of the long arm of chromosome 9
property_value: exactMatch http://identifiers.org/snomedct/764997000
property_value: exactMatch Orphanet:96112

[Term]
id: MONDO:0019891
name: monosomy 22
subset: ordo_malformation_syndrome {source="Orphanet:96123"}
synonym: "Del(22)" EXACT [Orphanet:96123]
synonym: "deletion 22" EXACT [Orphanet:96123]
synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123]
xref: ICD10:Q93.0 {source="Orphanet:96123", source="ORDO:96123/attributed", source="ORDO:96123/ntbt"}
xref: NCIT:C36461 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-0.93/0.86/0.11"}
xref: Orphanet:96123 {source="MONDO:equivalentTo"}
xref: UMLS:C0795878 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020053 {source="Orphanet:96123"} ! total autosomal monosomy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795878
property_value: exactMatch NCIT:C36461
property_value: exactMatch Orphanet:96123

[Term]
id: MONDO:0019892
name: distal monosomy 7p
subset: ordo_malformation_syndrome {source="Orphanet:96126"}
synonym: "distal deletion 7p" EXACT [Orphanet:96126]
synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126]
synonym: "monosomy 7pter" EXACT [Orphanet:96126]
synonym: "telomeric deletion 7p" EXACT [Orphanet:96126]
xref: ICD10:Q93.5 {source="Orphanet:96126", source="ORDO:96126/attributed", source="ORDO:96126/ntbt"}
xref: Orphanet:96126 {source="MONDO:equivalentTo"}
is_a: MONDO:0016889 {source="MONDOLEX:0019892", source="Orphanet:96126"} ! partial deletion of the short arm of chromosome 7
property_value: exactMatch Orphanet:96126

[Term]
id: MONDO:0019893
name: distal monosomy 19p13.3
def: "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." [Orphanet:96129]
subset: ordo_malformation_syndrome {source="Orphanet:96129"}
synonym: "distal deletion 19p" EXACT [Orphanet:96129]
synonym: "telomeric deletion 19p" EXACT [Orphanet:96129]
xref: ICD10:Q93.5 {source="ORDO:96129/attributed", source="ORDO:96129/ntbt", source="Orphanet:96129"}
xref: Orphanet:96129 {source="MONDO:equivalentTo"}
is_a: MONDO:0016897 {source="Orphanet:96129"} ! partial deletion of the short arm of chromosome 19
property_value: exactMatch Orphanet:96129

[Term]
id: MONDO:0019894
name: non-distal monosomy 7p
subset: ordo_malformation_syndrome {source="Orphanet:96136"}
synonym: "non-distal deletion 7p" EXACT [Orphanet:96136]
synonym: "non-distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96136]
synonym: "non-telomeric monosomy 7p" EXACT [Orphanet:96136]
xref: ICD10:Q93.5 {source="Orphanet:96136", source="ORDO:96136/attributed", source="ORDO:96136/ntbt"}
xref: Orphanet:96136 {source="MONDO:equivalentTo"}
is_a: MONDO:0016889 {source="MONDOLEX:0019894", source="Orphanet:96136"} ! partial deletion of the short arm of chromosome 7
property_value: exactMatch Orphanet:96136

[Term]
id: MONDO:0019895
name: distal monosomy 4q
subset: ordo_malformation_syndrome {source="Orphanet:96145"}
synonym: "distal deletion 4q" EXACT [Orphanet:96145]
synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145]
synonym: "monosomy 4qter" EXACT [Orphanet:96145]
synonym: "telomeric deletion 4q" EXACT [Orphanet:96145]
xref: ICD10:Q93.5 {source="Orphanet:96145", source="ORDO:96145/attributed", source="ORDO:96145/ntbt"}
xref: Orphanet:96145 {source="MONDO:equivalentTo"}
is_a: MONDO:0016903 {source="MONDOLEX:0019895", source="Orphanet:96145"} ! partial deletion of the long arm of chromosome 4
property_value: exactMatch Orphanet:96145

[Term]
id: MONDO:0019896
name: Kleefstra syndrome due to 9q34 microdeletion
subset: ordo_etiological_subtype {source="Orphanet:96147"}
synonym: "9q subtelomeric deletion syndrome" EXACT [Orphanet:96147]
synonym: "9qSTDS" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to 9q subtelomeric deletion" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to del(9)(q34)" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to monosomy 9q34" EXACT [Orphanet:96147]
xref: ICD10:Q87.8 {source="Orphanet:96147", source="ORDO:96147/attributed", source="ORDO:96147/ntbt"}
xref: Orphanet:96147 {source="MONDO:equivalentTo"}
xref: UMLS:CN206831 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015652 {source="MONDO:Redundant", source="Orphanet:96147"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016908 {source="Orphanet:96147"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0027407 {source="Orphanet:96147", source="https://github.com/monarch-initiative/mondo/issues/1063"} ! Kleefstra syndrome 1
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0012455 ! Kleefstra syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206831
property_value: exactMatch Orphanet:96147

[Term]
id: MONDO:0019897
name: distal monosomy 12q
subset: ordo_malformation_syndrome {source="Orphanet:96149"}
synonym: "distal deletion 12q" EXACT [Orphanet:96149]
synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149]
synonym: "monosomy 12qter" EXACT [Orphanet:96149]
synonym: "telomeric deletion 12q" EXACT [Orphanet:96149]
xref: ICD10:Q93.5 {source="Orphanet:96149", source="ORDO:96149/attributed", source="ORDO:96149/ntbt"}
xref: Orphanet:96149 {source="MONDO:equivalentTo"}
is_a: MONDO:0016877 {source="Orphanet:96149"} ! partial deletion of the long arm of chromosome 12
property_value: exactMatch Orphanet:96149

[Term]
id: MONDO:0019898
name: distal monosomy 14q
def: "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." [Orphanet:96150]
subset: ordo_malformation_syndrome {source="Orphanet:96150"}
synonym: "distal deletion 14q" EXACT [Orphanet:96150]
synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150]
synonym: "telomeric deletion 14q" EXACT [Orphanet:96150]
xref: ICD10:Q93.5 {source="ORDO:96150/attributed", source="ORDO:96150/ntbt", source="Orphanet:96150"}
xref: Orphanet:96150 {source="MONDO:equivalentTo"}
is_a: MONDO:0016912 {source="Orphanet:96150"} ! partial deletion of the long arm of chromosome 14
property_value: exactMatch Orphanet:96150

[Term]
id: MONDO:0019899
name: distal monosomy 20q
subset: ordo_malformation_syndrome {source="Orphanet:96152"}
synonym: "distal deletion 20q" EXACT [Orphanet:96152]
synonym: "distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96152]
synonym: "monosomy 20qter" EXACT [Orphanet:96152]
synonym: "telomeric deletion 20q" EXACT [Orphanet:96152]
xref: ICD10:Q93.5 {source="ORDO:96152/attributed", source="ORDO:96152/ntbt", source="Orphanet:96152"}
xref: Orphanet:96152 {source="MONDO:equivalentTo"}
is_a: MONDO:0016918 {source="Orphanet:96152"} ! partial deletion of the long arm of chromosome 20
property_value: exactMatch Orphanet:96152

[Term]
id: MONDO:0019900
name: non-distal monosomy 12q
subset: ordo_malformation_syndrome {source="Orphanet:96160"}
synonym: "non-distal deletion 12q" EXACT [Orphanet:96160]
synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160]
synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160]
xref: ICD10:Q93.5 {source="ORDO:96160/attributed", source="ORDO:96160/ntbt", source="Orphanet:96160"}
xref: Orphanet:96160 {source="MONDO:equivalentTo"}
is_a: MONDO:0016877 {source="Orphanet:96160"} ! partial deletion of the long arm of chromosome 12
property_value: exactMatch Orphanet:96160

[Term]
id: MONDO:0019901
name: non-distal monosomy 20q
subset: ordo_malformation_syndrome {source="Orphanet:96164"}
synonym: "non-distal deletion 20q" EXACT [Orphanet:96164]
synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96164]
synonym: "non-telomeric monosomy 20q" EXACT [Orphanet:96164]
xref: ICD10:Q93.5 {source="ORDO:96164/attributed", source="ORDO:96164/ntbt", source="Orphanet:96164"}
xref: Orphanet:96164 {source="MONDO:equivalentTo"}
is_a: MONDO:0016918 {source="Orphanet:96164"} ! partial deletion of the long arm of chromosome 20
property_value: exactMatch Orphanet:96164

[Term]
id: MONDO:0019902
name: monosomy 13q34
def: "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." [Orphanet:96168]
subset: ordo_malformation_syndrome {source="Orphanet:96168"}
synonym: "Del(13)(q34)" EXACT [Orphanet:96168]
synonym: "distal deletion 13q34" EXACT [Orphanet:96168]
synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168]
synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168]
xref: ICD10:Q93.5 {source="Orphanet:96168", source="ORDO:96168/attributed", source="ORDO:96168/ntbt"}
xref: Orphanet:96168 {source="MONDO:equivalentTo"}
xref: SCTID:766716004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:96168"} ! syndromic anorectal malformation
is_a: MONDO:0016911 {source="Orphanet:96168"} ! partial deletion of the long arm of chromosome 13
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96168"} ! chromosomal anomaly with cataract
property_value: exactMatch http://identifiers.org/snomedct/766716004
property_value: exactMatch Orphanet:96168

[Term]
id: MONDO:0019903
name: ring chromosome 2
def: "Gene expression cluster 2 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121981]
subset: gard_rare {source="GARD:0010837"}
subset: ordo_malformation_syndrome {source="Orphanet:96171"}
synonym: "chromosome 2 ring" RELATED [GARD:0010837]
synonym: "R2" RELATED [GARD:0010837]
synonym: "Ring 2" RELATED [GARD:0010837]
synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171]
synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171]
synonym: "rose cluster 2" EXACT [NCIT:C121981]
xref: GARD:0010837 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:96171/attributed", source="ORDO:96171/ntbt", source="Orphanet:96171"}
xref: NCIT:C121981 {source="MONDO:equivalentTo"}
xref: Orphanet:96171 {source="MONDO:equivalentTo"}
xref: SCTID:765485000 {source="MONDO:equivalentTo"}
xref: UMLS:C4050313 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="Orphanet:96171"} ! ring chromosome
property_value: exactMatch http://identifiers.org/snomedct/765485000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050313
property_value: exactMatch NCIT:C121981
property_value: exactMatch Orphanet:96171
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 xsd:anyURI {source="GARD:0010837"}

[Term]
id: MONDO:0019904
name: ring chromosome 3
def: "Gene expression cluster 3 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia." [NCIT:C121982]
subset: gard_rare {source="GARD:0010839"}
subset: ordo_malformation_syndrome {source="Orphanet:96172"}
synonym: "chromosome 3 ring" RELATED [GARD:0010839]
synonym: "R3" RELATED [GARD:0010839]
synonym: "Ring 3" RELATED [GARD:0010839]
synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172]
synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172]
synonym: "rose cluster 3" EXACT [NCIT:C121982]
xref: GARD:0010839 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:96172/attributed", source="ORDO:96172/ntbt", source="Orphanet:96172"}
xref: NCIT:C121982 {source="MONDO:equivalentTo"}
xref: Orphanet:96172 {source="MONDO:equivalentTo"}
xref: SCTID:765486004 {source="MONDO:equivalentTo"}
xref: UMLS:C4050314 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="Orphanet:96172"} ! ring chromosome
property_value: exactMatch http://identifiers.org/snomedct/765486004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4050314
property_value: exactMatch NCIT:C121982
property_value: exactMatch Orphanet:96172
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 xsd:anyURI {source="GARD:0010839"}

[Term]
id: MONDO:0019905
name: ring chromosome 9
subset: gard_rare {source="GARD:0001348"}
subset: ordo_malformation_syndrome {source="Orphanet:96173"}
synonym: "chromosome 9 ring" RELATED [GARD:0001348]
synonym: "r9" RELATED [GARD:0001348]
synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173]
synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173]
synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173]
xref: GARD:0001348 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:96173/attributed", source="ORDO:96173/ntbt", source="Orphanet:96173"}
xref: MESH:C538022 {source="MONDO:equivalentTo", source="ORDO:96173/e", source="MONDO:ontobio", source="Orphanet:96173"}
xref: Orphanet:96173 {source="MONDO:equivalentTo"}
xref: SCTID:60650002 {source="MONDO:equivalentTo"}
xref: UMLS:CN036105 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C538022", source="Orphanet:96173"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538022
property_value: exactMatch http://identifiers.org/snomedct/60650002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265430
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931693
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036105
property_value: exactMatch Orphanet:96173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 xsd:anyURI {source="GARD:0001348"}

[Term]
id: MONDO:0019906
name: ring chromosome 11
subset: gard_rare {source="GARD:0010846"}
subset: ordo_malformation_syndrome {source="Orphanet:96175"}
synonym: "chromosome 11 ring" RELATED [GARD:0010846]
synonym: "r(11) syndrome" EXACT [Orphanet:96175]
synonym: "r11" RELATED [GARD:0010846]
synonym: "RC11" EXACT [Orphanet:96175]
synonym: "Ring 11" RELATED [GARD:0010846]
synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175]
synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175]
xref: EFO:0002849 {source="MONDO:equivalentTo"}
xref: GARD:0010846 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:96175/attributed", source="ORDO:96175/ntbt", source="Orphanet:96175"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:96175 {source="MONDO:equivalentTo"}
xref: SCTID:111310003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265444 {source="MONDO:equivalentTo", source="ORDO:96175/e", source="Orphanet:96175"}
is_a: MONDO:0018186 {source="Orphanet:96175"} ! ring chromosome
property_value: exactMatch http://identifiers.org/snomedct/111310003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265444
property_value: exactMatch Orphanet:96175
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 xsd:anyURI {source="GARD:0010846"}

[Term]
id: MONDO:0019907
name: ring chromosome 13
def: "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." [Orphanet:96176]
subset: gard_rare {source="GARD:0006069"}
subset: ordo_malformation_syndrome {source="Orphanet:96176"}
synonym: "chromosome 13 ring" RELATED [GARD:0006069]
synonym: "R13" RELATED [GARD:0006069]
synonym: "Ring 13" RELATED [GARD:0006069]
synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176]
synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176]
xref: GARD:0006069 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="ORDO:96176/attributed", source="ORDO:96176/ntbt", source="Orphanet:96176"}
xref: MESH:C538303 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:96176/e", source="Orphanet:96176"}
xref: Orphanet:96176 {source="MONDO:equivalentTo"}
xref: SCTID:726723004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:96176"} ! syndromic anorectal malformation
is_a: MONDO:0018186 {source="MESH:C538303", source="Orphanet:96176"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538303
property_value: exactMatch http://identifiers.org/snomedct/726723004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931808
property_value: exactMatch Orphanet:96176
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 xsd:anyURI {source="GARD:0006069"}

[Term]
id: MONDO:0019908
name: ring chromosome 15
def: "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone ( hypotonia ); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects , kidney problems, congenital dislocation of the hips, and cafe-au-lait spots . Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss ( deletion ) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous ( de novo ) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation . Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." [https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15]
subset: gard_rare {source="GARD:0001328"}
subset: ordo_malformation_syndrome {source="Orphanet:96177"}
synonym: "chromosome 15 ring" RELATED [GARD:0001328]
synonym: "R15" RELATED [GARD:0001328]
synonym: "Ring 15" RELATED [GARD:0001328]
synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177]
synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177]
xref: GARD:0001328 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:96177", source="ORDO:96177/attributed", source="ORDO:96177/ntbt"}
xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:96177/e"}
xref: Orphanet:96177 {source="MONDO:equivalentTo"}
xref: SCTID:763405000 {source="MONDO:equivalentTo"}
xref: UMLS:CN035931 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="MESH:C538035", source="Orphanet:96177"} ! ring chromosome
property_value: exactMatch http://identifiers.org/mesh/C538035
property_value: exactMatch http://identifiers.org/snomedct/763405000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931703
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035931
property_value: exactMatch Orphanet:96177
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 xsd:anyURI {source="GARD:0001328"}

[Term]
id: MONDO:0019909
name: ring chromosome 16
def: "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability , microcephaly , broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." [https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16]
subset: gard_rare {source="GARD:0010855"}
subset: ordo_malformation_syndrome {source="Orphanet:96178"}
synonym: "chromosome 16 ring" RELATED [GARD:0010855]
synonym: "R16" RELATED [GARD:0010855]
synonym: "Ring 16" RELATED [GARD:0010855]
synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178]
synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178]
xref: GARD:0010855 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.2 {source="Orphanet:96178", source="ORDO:96178/attributed", source="ORDO:96178/ntbt"}
xref: Orphanet:96178 {source="MONDO:equivalentTo"}
xref: SCTID:763406004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018186 {source="Orphanet:96178"} ! ring chromosome
property_value: exactMatch http://identifiers.org/snomedct/763406004
property_value: exactMatch Orphanet:96178
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 xsd:anyURI {source="GARD:0010855"}

[Term]
id: MONDO:0019910
name: maternal uniparental disomy of chromosome 2
def: "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96179]
subset: ordo_malformation_syndrome {source="Orphanet:96179"}
synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179]
synonym: "UPD(2)mat" EXACT [Orphanet:96179]
xref: ICD10:Q99.8 {source="Orphanet:96179", source="ORDO:96179/attributed", source="ORDO:96179/ntbt"}
xref: Orphanet:96179 {source="MONDO:equivalentTo"}
xref: SCTID:766237006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96179"} ! uniparental disomy of maternal origin
property_value: exactMatch http://identifiers.org/snomedct/766237006
property_value: exactMatch Orphanet:96179

[Term]
id: MONDO:0019911
name: maternal uniparental disomy of chromosome 4
def: "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96180]
subset: ordo_malformation_syndrome {source="Orphanet:96180"}
synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180]
synonym: "UPD(4)mat" EXACT [Orphanet:96180]
xref: ICD10:Q99.8 {source="ORDO:96180/attributed", source="ORDO:96180/ntbt", source="Orphanet:96180"}
xref: Orphanet:96180 {source="MONDO:equivalentTo"}
xref: SCTID:766238001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96180"} ! uniparental disomy of maternal origin
property_value: exactMatch http://identifiers.org/snomedct/766238001
property_value: exactMatch Orphanet:96180

[Term]
id: MONDO:0019912
name: maternal uniparental disomy of chromosome 6
def: "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." [Orphanet:96181]
subset: ordo_malformation_syndrome {source="Orphanet:96181"}
synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181]
synonym: "UPD(6)mat" EXACT [Orphanet:96181]
xref: ICD10:Q99.8 {source="ORDO:96181/attributed", source="ORDO:96181/ntbt", source="Orphanet:96181"}
xref: Orphanet:96181 {source="MONDO:equivalentTo"}
xref: SCTID:766239009 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96181"} ! uniparental disomy of maternal origin
property_value: exactMatch http://identifiers.org/snomedct/766239009
property_value: exactMatch Orphanet:96181

[Term]
id: MONDO:0019913
name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
def: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." [Orphanet:96182]
subset: ordo_etiological_subtype {source="Orphanet:96182"}
synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182]
synonym: "UPD(7)mat" EXACT [Orphanet:96182]
xref: ICD10:Q87.1 {source="ORDO:96182/attributed", source="ORDO:96182/ntbt", source="Orphanet:96182"}
xref: Orphanet:96182 {source="MONDO:equivalentTo"}
xref: UMLS:CN206841 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="Orphanet:96182"} ! Silver-Russell syndrome
is_a: MONDO:0020056 {source="Orphanet:96182"} ! uniparental disomy of maternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206841
property_value: exactMatch Orphanet:96182

[Term]
id: MONDO:0019914
name: maternal uniparental disomy of chromosome 9
def: "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96183]
subset: ordo_malformation_syndrome {source="Orphanet:96183"}
synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183]
synonym: "UPD(9)mat" EXACT [Orphanet:96183]
xref: ICD10:Q99.8 {source="ORDO:96183/attributed", source="ORDO:96183/ntbt", source="Orphanet:96183"}
xref: Orphanet:96183 {source="MONDO:equivalentTo"}
xref: SCTID:766240006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96183"} ! uniparental disomy of maternal origin
property_value: exactMatch http://identifiers.org/snomedct/766240006
property_value: exactMatch Orphanet:96183

[Term]
id: MONDO:0019915
name: maternal uniparental disomy of chromosome 14
def: "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." [Orphanet:96184]
subset: ordo_etiological_subtype {source="Orphanet:96184"}
synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184]
synonym: "UPD(14)mat" EXACT [Orphanet:96184]
xref: ICD10:Q99.8 {source="ORDO:96184/attributed", source="ORDO:96184/ntbt", source="Orphanet:96184"}
xref: Orphanet:96184 {source="MONDO:equivalentTo"}
is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect
is_a: MONDO:0020056 {source="Orphanet:96184"} ! uniparental disomy of maternal origin
property_value: exactMatch Orphanet:96184

[Term]
id: MONDO:0019916
name: maternal uniparental disomy of chromosome 16
subset: ordo_malformation_syndrome {source="Orphanet:96185"}
synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185]
synonym: "UPD(16)mat" EXACT [Orphanet:96185]
xref: ICD10:Q99.8 {source="ORDO:96185/attributed", source="ORDO:96185/ntbt", source="Orphanet:96185"}
xref: Orphanet:96185 {source="MONDO:equivalentTo"}
is_a: MONDO:0015246 {source="Orphanet:96185"} ! syndromic anorectal malformation
is_a: MONDO:0020056 {source="Orphanet:96185"} ! uniparental disomy of maternal origin
property_value: exactMatch Orphanet:96185

[Term]
id: MONDO:0019917
name: maternal uniparental disomy of chromosome 20
def: "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." [Orphanet:96186]
subset: ordo_malformation_syndrome {source="Orphanet:96186"}
synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96186]
synonym: "maternal UPD(20)" EXACT [Orphanet:96186]
synonym: "MBCS" RELATED [OMIM:617352]
synonym: "MULCHANDANI-BHOJ-CONLIN syndrome; MBCS" RELATED [OMIM:617352]
synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352]
synonym: "UPD(20)mat" EXACT [Orphanet:96186]
xref: ICD10:Q99.8 {source="ORDO:96186/attributed", source="ORDO:96186/ntbt", source="Orphanet:96186"}
xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"}
xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"}
xref: SCTID:715735007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0020056 {source="Orphanet:96186"} ! uniparental disomy of maternal origin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4275029
property_value: exactMatch http://identifiers.org/omim/617352
property_value: exactMatch http://identifiers.org/snomedct/715735007
property_value: exactMatch Orphanet:96186

[Term]
id: MONDO:0019918
name: maternal uniparental disomy of chromosome 21
subset: ordo_malformation_syndrome {source="Orphanet:96187"}
synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187]
synonym: "UPD(21)mat" EXACT [Orphanet:96187]
xref: ICD10:Q99.8 {source="ORDO:96187/attributed", source="ORDO:96187/ntbt", source="Orphanet:96187"}
xref: Orphanet:96187 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96187"} ! uniparental disomy of maternal origin
property_value: exactMatch Orphanet:96187

[Term]
id: MONDO:0019919
name: maternal uniparental disomy of chromosome 22
subset: ordo_malformation_syndrome {source="Orphanet:96188"}
synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188]
synonym: "UPD(22)mat" EXACT [Orphanet:96188]
xref: ICD10:Q99.8 {source="Orphanet:96188", source="ORDO:96188/attributed", source="ORDO:96188/ntbt"}
xref: Orphanet:96188 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:96188"} ! uniparental disomy of maternal origin
property_value: exactMatch Orphanet:96188

[Term]
id: MONDO:0019920
name: paternal uniparental disomy of chromosome 5
def: "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96190]
subset: ordo_malformation_syndrome {source="Orphanet:96190"}
synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190]
synonym: "UPD(5)pat" EXACT [Orphanet:96190]
xref: ICD10:Q99.8 {source="ORDO:96190/attributed", source="ORDO:96190/ntbt", source="Orphanet:96190"}
xref: Orphanet:96190 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:96190"} ! uniparental disomy of paternal origin
property_value: exactMatch Orphanet:96190

[Term]
id: MONDO:0019921
name: paternal uniparental disomy of chromosome 6
def: "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." [Orphanet:96191]
subset: ordo_malformation_syndrome {source="Orphanet:96191"}
synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191]
synonym: "UPD(6)pat" EXACT [Orphanet:96191]
xref: ICD10:Q99.8 {source="ORDO:96191/attributed", source="ORDO:96191/ntbt", source="Orphanet:96191"}
xref: Orphanet:96191 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:96191"} ! uniparental disomy of paternal origin
property_value: exactMatch Orphanet:96191

[Term]
id: MONDO:0019922
name: paternal uniparental disomy of chromosome 7
def: "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." [Orphanet:96192]
subset: ordo_malformation_syndrome {source="Orphanet:96192"}
synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192]
synonym: "UPD(7)pat" EXACT [Orphanet:96192]
xref: ICD10:Q99.8 {source="ORDO:96192/attributed", source="ORDO:96192/ntbt", source="Orphanet:96192"}
xref: Orphanet:96192 {source="MONDO:equivalentTo"}
xref: SCTID:766721001 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:96192"} ! uniparental disomy of paternal origin
property_value: exactMatch http://identifiers.org/snomedct/766721001
property_value: exactMatch Orphanet:96192

[Term]
id: MONDO:0019923
name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
subset: ordo_etiological_subtype {source="Orphanet:96193"}
synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193]
synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193]
synonym: "UPD(11)pat" EXACT [Orphanet:96193]
xref: ICD10:Q87.3 {source="ORDO:96193/attributed", source="ORDO:96193/ntbt", source="Orphanet:96193"}
xref: Orphanet:96193 {source="MONDO:equivalentTo"}
xref: UMLS:CN206842 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007534 {source="MONDOLEX:0019923", source="Orphanet:96193"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0019717 ! chromosomal disease with overgrowth
is_a: MONDO:0020057 {source="Orphanet:96193"} ! uniparental disomy of paternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206842
property_value: exactMatch Orphanet:96193

[Term]
id: MONDO:0019924
name: paternal uniparental disomy of chromosome 20
def: "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20." [Orphanet:96194]
subset: ordo_malformation_syndrome {source="Orphanet:96194"}
synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96194]
synonym: "paternal UPD(20)" EXACT [Orphanet:96194]
synonym: "paternal UPD20" EXACT [Orphanet:96194]
synonym: "UPD(20)pat" EXACT [Orphanet:96194]
xref: ICD10:Q99.8 {source="ORDO:96194/attributed", source="ORDO:96194/ntbt", source="Orphanet:96194"}
xref: Orphanet:96194 {source="MONDO:equivalentTo"}
xref: SCTID:715736008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4275028 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:96194"} ! uniparental disomy of paternal origin
property_value: exactMatch http://identifiers.org/snomedct/715736008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275028
property_value: exactMatch Orphanet:96194

[Term]
id: MONDO:0019925
name: paternal uniparental disomy of chromosome 21
def: "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96195]
subset: ordo_malformation_syndrome {source="Orphanet:96195"}
synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195]
synonym: "UPD(21)pat" EXACT [Orphanet:96195]
xref: ICD10:Q99.8 {source="ORDO:96195/attributed", source="ORDO:96195/ntbt", source="Orphanet:96195"}
xref: Orphanet:96195 {source="MONDO:equivalentTo"}
xref: SCTID:766720000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:96195"} ! uniparental disomy of paternal origin
property_value: exactMatch http://identifiers.org/snomedct/766720000
property_value: exactMatch Orphanet:96195

[Term]
id: MONDO:0019926
name: X small rings
def: "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." [Orphanet:96201]
subset: ordo_malformation_syndrome {source="Orphanet:96201"}
xref: ICD10:Q99.8 {source="Orphanet:96201", source="ORDO:96201/attributed", source="ORDO:96201/ntbt"}
xref: Orphanet:96201 {source="MONDO:equivalentTo"}
xref: SCTID:766760004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018413 {source="Orphanet:96201"} ! female infertility due to an anomaly of ovarian function of genetic origin
is_a: MONDO:0019852 {source="Orphanet:96201"} ! inherited primary ovarian failure
is_a: MONDO:0020062 {source="Orphanet:96201"} ! chromosome X structural anomaly
property_value: exactMatch http://identifiers.org/snomedct/766760004
property_value: exactMatch Orphanet:96201

[Term]
id: MONDO:0019927
name: growth hormone-producing pituitary gland neoplasm
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." [NCIT:C7911]
synonym: "growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "Growth hormone-producing pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911]
synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911]
synonym: "somatotroph neoplasm" EXACT [NCIT:C7911]
synonym: "somatotroph tumor" EXACT [NCIT:C7911]
synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256]
synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911]
synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911]
synonym: "somatotropinoma of the pituitary" EXACT [NCIT:C7911]
synonym: "somatotropinoma of the pituitary gland" EXACT [NCIT:C7911]
xref: NCIT:C7911 {source="MONDO:equivalentTo"}
xref: UMLS:C0278864 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7911"}
is_a: MONDO:0005626 ! epithelial neoplasm
is_a: MONDO:0017611 ! pituitary tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278864
property_value: exactMatch NCIT:C7911

[Term]
id: MONDO:0019928
name: 48,XXXY syndrome
def: "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." [Orphanet:96263]
subset: gard_rare {source="GARD:0005676"}
subset: ordo_malformation_syndrome {source="Orphanet:96263"}
synonym: "48, XXXY syndrome" EXACT [NCIT:C89799]
synonym: "XXXY syndrome" RELATED [GARD:0005676]
xref: GARD:0005676 {source="MONDO:equivalentTo"}
xref: ICD10:Q98.1 {source="ORDO:96263/attributed", source="ORDO:96263/ntbt", source="Orphanet:96263"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10048228 {source="ORDO:96263/e", source="Orphanet:96263"}
xref: NCIT:C89799 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.37/0.47"}
xref: Orphanet:96263 {source="MONDO:equivalentTo"}
xref: SCTID:78317008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.78"}
xref: UMLS:C0265498 {source="MONDO:equivalentTo", source="ORDO:96263/e", source="NCIT:C89799", source="Orphanet:96263"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:96263"} ! syndromic urogenital tract malformation
is_a: MONDO:0017001 {source="Orphanet:96263"} ! X chromosome number anomaly with male phenotype
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017975 {source="Orphanet:96263"} ! sex chromosome disorder of sex development
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020090 {source="Orphanet:96263"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/meddra/10048228
property_value: exactMatch http://identifiers.org/snomedct/78317008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265498
property_value: exactMatch NCIT:C89799
property_value: exactMatch Orphanet:96263
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome xsd:anyURI {source="GARD:0005676"}

[Term]
id: MONDO:0019929
name: 49,XXXXY syndrome
def: "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." [Orphanet:96264]
subset: gard_rare {source="GARD:0005679"}
subset: ordo_malformation_syndrome {source="Orphanet:96264"}
synonym: "49,XXXXY" RELATED [GARD:0005679]
synonym: "XXXXY syndrome" RELATED [GARD:0005679]
xref: GARD:0005679 {source="MONDO:equivalentTo"}
xref: ICD10:Q98.1 {source="ORDO:96264/attributed", source="ORDO:96264/ntbt", source="Orphanet:96264"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:96264 {source="MONDO:equivalentTo"}
xref: SCTID:38847009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/7.59"}
xref: UMLS:C0265499 {source="MONDO:equivalentTo", source="Orphanet:96264"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:96264"} ! syndromic urogenital tract malformation
is_a: MONDO:0017001 {source="Orphanet:96264"} ! X chromosome number anomaly with male phenotype
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0017975 {source="Orphanet:96264"} ! sex chromosome disorder of sex development
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020090 {source="Orphanet:96264"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/snomedct/38847009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265499
property_value: exactMatch Orphanet:96264
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome xsd:anyURI {source="GARD:0005679"}

[Term]
id: MONDO:0019930
name: Leydig cell hypoplasia due to complete LH resistance
subset: ordo_clinical_subtype {source="Orphanet:96265"}
synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete LH resistance" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
xref: ICD10:Q56.1 {source="Orphanet:96265", source="ORDO:96265/attributed", source="ORDO:96265/ntbt"}
xref: Orphanet:96265 {source="MONDO:equivalentTo"}
xref: UMLS:CN206847 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206847
property_value: exactMatch Orphanet:96265

[Term]
id: MONDO:0019931
name: Leydig cell hypoplasia due to partial LH resistance
subset: ordo_clinical_subtype {source="Orphanet:96266"}
synonym: "46,XY disorder of sex developement due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "46,XY disorder of sex developement due to partial LH resistance" EXACT [Orphanet:96266]
synonym: "46,XY disorder of sex developement due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial LH resistance" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
xref: ICD10:Q56.1 {source="Orphanet:96266", source="ORDO:96266/attributed", source="ORDO:96266/ntbt"}
xref: Orphanet:96266 {source="MONDO:equivalentTo"}
xref: UMLS:CN206848 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206848
property_value: exactMatch Orphanet:96266

[Term]
id: MONDO:0019932
name: isolated partial vaginal agenesis
def: "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." [Orphanet:96269]
subset: ordo_morphological_anomaly {source="Orphanet:96269"}
synonym: "congenital absence of vagina" EXACT [Orphanet:96269]
xref: COHD:4337688 {source="MONDO:equivalentTo"}
xref: ICD10:Q52.0 {source="Orphanet:96269", source="ORDO:96269/ntbt"}
xref: Orphanet:96269 {source="MONDO:equivalentTo"}
xref: SCTID:87380008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015847 {source="Orphanet:96269"} ! rare vaginal malformation
property_value: exactMatch http://identifiers.org/snomedct/87380008
property_value: exactMatch Orphanet:96269

[Term]
id: MONDO:0019933
name: acromegaly
def: "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." [Orphanet:963]
subset: gard_rare {source="GARD:0005725"}
subset: ordo_disease {source="Orphanet:963"}
synonym: "Growth hormone excess" RELATED [GARD:0005725]
synonym: "pituitary giant" RELATED [GARD:0005725]
synonym: "somatotroph adenoma" RELATED [GARD:0005725]
xref: DOID:2449 {source="MONDO:equivalentTo"}
xref: EFO:1001485 {source="MONDO:equivalentTo"}
xref: GARD:0005725 {source="MONDO:equivalentTo"}
xref: ICD10:E22.0 {source="Orphanet:963", source="ORDO:963/e"}
xref: MedDRA:10000599 {source="Orphanet:963", source="ORDO:963/e"}
xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="DOID:2449", source="MONDO:ontobio", source="ORDO:963/e"}
xref: NCIT:C84533 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:2449"}
xref: Orphanet:963 {source="MONDO:equivalentTo"}
xref: SCTID:74107003 {source="MONDO:kboom-pr-0.88/0.75/0.11", source="MONDO:equivalentTo", source="DOID:2449"}
xref: UMLS:C0001206 {source="Orphanet:963", source="MONDO:equivalentTo", source="DOID:2449", source="NCIT:C84533", source="ORDO:963/e"}
is_a: MONDO:0006793 {source="DOID:2449", source="MESH:D000172", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism
is_a: MONDO:0007052 ! growth hormone secreting pituitary adenoma 1
is_a: MONDO:0018397 {source="MONDO:Redundant", source="Orphanet:963"} ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
is_a: MONDO:0021148 ! female reproductive system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/154698000
property_value: closeMatch http://identifiers.org/snomedct/267480001
property_value: exactMatch DOID:2449
property_value: exactMatch http://identifiers.org/meddra/10000599
property_value: exactMatch http://identifiers.org/mesh/D000172
property_value: exactMatch http://identifiers.org/snomedct/74107003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001206
property_value: exactMatch NCIT:C84533
property_value: exactMatch Orphanet:963
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5725/acromegaly xsd:anyURI {source="GARD:0005725"}

[Term]
id: MONDO:0019934
name: polyploidy
def: "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123]
subset: ordo_group_of_disorders {source="Orphanet:96321"}
xref: ICD10:Q92.7 {source="Orphanet:96321", source="ORDO:96321/specific", source="ORDO:96321/e"}
xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:96321/e"}
xref: Orphanet:96321 {source="MONDO:equivalentTo"}
xref: SCTID:72991005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/7.65"}
is_a: MONDO:0019040 {source="Orphanet:96321", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/D011123
property_value: exactMatch http://identifiers.org/snomedct/72991005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032578
property_value: exactMatch Orphanet:96321

[Term]
id: MONDO:0019935
name: isochromosome Y
subset: ordo_group_of_disorders {source="Orphanet:96325"}
synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325]
xref: ICD10:Q98.6 {source="Orphanet:96325", source="ORDO:96325/attributed", source="ORDO:96325/ntbt"}
xref: Orphanet:96325 {source="MONDO:equivalentTo"}
is_a: MONDO:0020061 {source="Orphanet:96325"} ! chromosome Y structural anomaly
property_value: exactMatch Orphanet:96325

[Term]
id: MONDO:0019936
name: rare otorhinolaryngological malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:96333"}
xref: Orphanet:96333 {source="MONDO:equivalentTo"}
xref: UMLS:CN227722 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015475 {source="Orphanet:96333"} ! rare head and neck malformation
is_a: MONDO:0024623 {source="Orphanet:96333"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227722
property_value: exactMatch Orphanet:96333
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019937
name: rare gynecologic or obstetric disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:96344"}
xref: Orphanet:96344 {source="MONDO:equivalentTo"}
xref: UMLS:CN206853 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 ! female reproductive system disease
relationship: has_modifier MONDO:0021136 ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206853
property_value: exactMatch Orphanet:96344
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0019938
name: anorectal malformation
subset: ordo_group_of_disorders {source="Orphanet:96346"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537771 {source="ORDO:96346/e", source="Orphanet:96346", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:96346 {source="MONDO:equivalentTo"}
xref: SCTID:33225004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.30"}
is_a: MONDO:0020019 {source="Orphanet:96346"} ! digestive tract malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495676
property_value: exactMatch http://identifiers.org/mesh/C537771
property_value: exactMatch http://identifiers.org/snomedct/33225004
property_value: exactMatch Orphanet:96346

[Term]
id: MONDO:0019939
name: early-onset schizophrenia
subset: ordo_disease {source="Orphanet:96369"}
xref: ICD10:F20.8 {source="Orphanet:96369", source="ORDO:96369/ntbt"}
xref: Orphanet:96369 {source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="MONDO:cjm"} ! schizophrenia (disease)
is_a: MONDO:0020016 {source="Orphanet:96369"} ! rare neurologic disease with psychiatric involvement
property_value: exactMatch Orphanet:96369

[Term]
id: MONDO:0019940
name: hypertrichosis-acromegaloid facial appearance syndrome
def: "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type (see these terms)." [Orphanet:966]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:966"}
synonym: "acromegaloid facial appearance syndrome and hypertrichosis" RELATED [GARD:0000502]
synonym: "acromegaloid hypertrichosis syndrome" RELATED [GARD:0000502]
synonym: "haff" EXACT [Orphanet:966]
synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [Orphanet:966]
synonym: "hypertrichosis-coarse face syndrome" EXACT [Orphanet:966]
xref: GARD:0000502 {source="MONDO:equivalentTo"}
xref: ICD10:Q87.0 {source="Orphanet:966", source="ORDO:966/attributed", source="ORDO:966/ntbt"}
xref: Orphanet:966 {source="MONDO:equivalentTo"}
xref: SCTID:721837000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"}
xref: UMLS:CN226272 {source="MONDO:equivalentTo"}
is_a: MONDO:0019280 {source="Orphanet:966", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease)
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:966"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/721837000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226272
property_value: exactMatch Orphanet:966
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome xsd:anyURI {source="GARD:0000502"}

[Term]
id: MONDO:0019941
name: hereditary sensory and autonomic neuropathy type 2
def: "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." [Orphanet:970]
subset: ordo_disease {source="Orphanet:970"}
synonym: "autosomal recessive sensory radicular neuropathy" EXACT [Orphanet:970]
synonym: "Giaccai type acroosteolysis" RELATED [GARD:0003976]
synonym: "hereditary sensory and autonomic neuropathy type II" EXACT [DOID:0070161, Orphanet:970]
synonym: "hereditary sensory neuropathy type 2" RELATED [GARD:0003976]
synonym: "hereditary sensory radicular neuropathy, recessive form" RELATED [GARD:0003976]
synonym: "HSAN2" EXACT [DOID:0070161, Orphanet:970]
synonym: "neurogenic acroosteolysis" EXACT [Orphanet:970]
xref: DOID:0070161 {source="MONDO:equivalentTo"}
xref: GARD:0003976 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:3976 {source="DOID:0070161"}
xref: ICD10:G60.8 {source="ORDO:970/attributed", source="ORDO:970/ntbt", source="Orphanet:970"}
xref: Orphanet:970 {source="MONDO:equivalentTo", source="DOID:0070161"}
xref: PMID:21089229 {source="DOID:0070161"}
xref: SCTID:398148000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0070161"}
is_a: MONDO:0015364 {source="DOID:0070161", source="Orphanet:970/inferred"} ! hereditary sensory and autonomic neuropathy
property_value: closeMatch http://identifiers.org/snomedct/230555009
property_value: closeMatch http://identifiers.org/snomedct/30508001
property_value: closeMatch http://identifiers.org/snomedct/398187000
property_value: closeMatch http://identifiers.org/snomedct/4021000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020072
property_value: exactMatch DOID:0070161
property_value: exactMatch http://identifiers.org/snomedct/398148000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270914
property_value: exactMatch Orphanet:970

[Term]
id: MONDO:0019942
name: distal arthrogryposis
def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [DOID:0050646, http://en.wikipedia.org/wiki/Arthrogryposis]
subset: ordo_group_of_disorders {source="Orphanet:97120"}
synonym: "arthrogryposis multiplex congenita" EXACT EXCLUDE [DOID:0050646]
synonym: "arthrogryposis multiplex congenita distal" RELATED [GARD:0000786]
synonym: "freeman-Sheldon syndrome" EXACT [DOID:0050646]
synonym: "freeman-Sheldon syndrome variant" EXACT [DOID:0050646]
synonym: "Sheldon-Hall syndrome" EXACT EXCLUDE [DOID:0050646]
xref: DOID:0050646 {source="MONDO:equivalentTo"}
xref: GARD:0000786 {source="MONDO:equivalentTo"}
xref: ICD10:Q68.8 {source="ORDO:97120/attributed", source="ORDO:97120/ntbt", source="Orphanet:97120"}
xref: OMIMPS:108120 {source="MONDO:equivalentTo"}
xref: Orphanet:97120 {source="MONDO:equivalentTo", source="GARD:0000786", source="DOID:0050646"}
xref: SCTID:24269006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003939 {source="DOID:0050646"} ! muscle tissue disease
is_a: MONDO:0015225 {source="Orphanet:97120"} ! arthrogryposis syndrome
property_value: exactMatch DOID:0050646
property_value: exactMatch http://identifiers.org/snomedct/24269006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265213
property_value: exactMatch Orphanet:97120
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis xsd:anyURI {source="GARD:0000786"}

[Term]
id: MONDO:0019943
name: hereditary continuous muscle fiber activity
def: "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." [Orphanet:972]
subset: gard_rare
subset: ordo_disease {source="Orphanet:972"}
synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857]
xref: GARD:0001512 {source="MONDO:equivalentTo"}
xref: ICD10:G71.1 {source="Orphanet:972", source="ORDO:972/attributed", source="ORDO:972/ntbt"}
xref: Orphanet:972 {source="MONDO:equivalentTo"}
xref: UMLS:C1834559 {source="Orphanet:972", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="GARD:0001512"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0016110 {source="Orphanet:972"} ! non-dystrophic myopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834559
property_value: exactMatch Orphanet:972
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary xsd:anyURI {source="GARD:0001512"}

[Term]
id: MONDO:0019944
name: Eisenmenger syndrome
def: "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations (see these terms) with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." [Orphanet:97214]
subset: gard_rare {source="GARD:0006323"}
subset: ordo_malformation_syndrome {source="Orphanet:97214"}
synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390]
xref: GARD:0006323 {source="MONDO:equivalentTo"}
xref: ICD10:I27.2 {source="Orphanet:97214", source="ORDO:97214/ntbt"}
xref: MedDRA:10058554 {source="ORDO:97214/e", source="Orphanet:97214"}
xref: MESH:D004541 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84390 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:97214 {source="MONDO:equivalentTo"}
xref: SCTID:445928005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.88"}
xref: UMLS:C0013743 {source="Orphanet:97214", source="NCIT:C84390", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0019944", source="NCIT:C84390"} ! syndromic disease
is_a: MONDO:0017152 {source="Orphanet:97214", source="linkedlifedata"} ! pulmonary arterial hypertension associated with congenital heart disease
property_value: exactMatch http://identifiers.org/meddra/10058554
property_value: exactMatch http://identifiers.org/mesh/D004541
property_value: exactMatch http://identifiers.org/snomedct/445928005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013743
property_value: exactMatch NCIT:C84390
property_value: exactMatch Orphanet:97214
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome xsd:anyURI {source="GARD:0006323"}

[Term]
id: MONDO:0019945
name: solar urticaria
def: "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." [Orphanet:97230]
subset: ordo_disease {source="Orphanet:97230"}
xref: ICD10:L56.3 {source="MONDO:equivalentTo", source="ORDO:97230/e", source="Orphanet:97230"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10041307 {source="ORDO:97230/e", source="Orphanet:97230"}
xref: Orphanet:97230 {source="MONDO:equivalentTo"}
xref: SCTID:10347006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0263610 {source="MONDO:equivalentTo", source="ORDO:97230/e", source="Orphanet:97230"}
is_a: MONDO:0019304 {source="Orphanet:97230"} ! rare photodermatosis
property_value: exactMatch http://identifiers.org/meddra/10041307
property_value: exactMatch http://identifiers.org/snomedct/10347006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263610
property_value: exactMatch Orphanet:97230

[Term]
id: MONDO:0019946
name: ligneous conjunctivitis
def: "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term)." [Orphanet:97231]
subset: ordo_disease {source="Orphanet:97231"}
synonym: "conjunctivitis lignosa" EXACT [Orphanet:97231]
xref: GARD:0006187 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H10.4 {source="MONDO:subClassOf", source="ORDO:97231/attributed", source="ORDO:97231/ntbt", source="Orphanet:97231"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071570 {source="ORDO:97231/e", source="Orphanet:97231"}
xref: Orphanet:97231 {source="MONDO:equivalentTo"}
xref: SCTID:403435005 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C1274789 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:97231/e", source="Orphanet:97231"}
is_a: MONDO:0002314 {source="MONDO:cjm"} ! chronic conjunctivitis
is_a: MONDO:0015937 {source="Orphanet:97231"} ! rare inflammatory eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020198"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10071570
property_value: exactMatch http://identifiers.org/snomedct/403435005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274789
property_value: exactMatch Orphanet:97231

[Term]
id: MONDO:0019947
name: rippling muscle disease 2
def: "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." [NCIT:C148325]
subset: ordo_disease {source="Orphanet:97238"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAV3 rippling muscle disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1C" EXACT DEPRECATED [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265]
synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT DEPRECATED [DOID:0110302, Orphanet:265]
synonym: "limb-girdle muscular dystrophy type 1C" RELATED DEPRECATED [GARD:0012527]
synonym: "muscular dystrophy limb-girdle type IC" EXACT DEPRECATED [DOID:0110302]
synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED DEPRECATED [MONDO:Lexical, OMIM:607801]
synonym: "muscular dystrophy, limb-girdle, type 1C; LGMD1C" RELATED DEPRECATED [OMIM:607801]
synonym: "muscular dystrophy, limb-girdle, type IC" RELATED DEPRECATED [GARD:0012527]
synonym: "rippling muscle disease 2" EXACT [NCIT:C148325]
synonym: "rippling muscle disease 2; RMD2" RELATED [OMIM:606072]
synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1]
synonym: "RMD2" EXACT [NCIT:C148325, OMIM:606072]
xref: DOID:0060255 {source="MONDO:equivalentTo"}
xref: MONDO:0011910 {source="obsoleteEquivalent"}
xref: NCIT:C148325 {source="MONDO:equivalentTo"}
xref: OMIM:606072 {source="DOID:0060255", source="MONDO:equivalentTo"}
xref: UMLS:C1832560 {source="MONDO:equivalentTo", source="OMIM:606072"}
is_a: MONDO:0020704 ! inherited rippling muscle disease
property_value: exactMatch DOID:0060255
property_value: exactMatch http://identifiers.org/omim/606072
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832560
property_value: exactMatch NCIT:C148325

[Term]
id: MONDO:0019948
name: reducing body myopathy
def: "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres." [Orphanet:97239]
subset: gard_rare {source="GARD:0012162"}
subset: ordo_disease {source="Orphanet:97239"}
xref: DOID:0080090 {source="MONDO:equivalentTo"}
xref: GARD:0012162 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:97239", source="ORDO:97239/attributed", source="ORDO:97239/ntbt"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:97239 {source="MONDO:equivalentTo"}
xref: SCTID:42779002 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="Orphanet:97239"} ! congenital myopathy
property_value: exactMatch DOID:0080090
property_value: exactMatch http://identifiers.org/snomedct/42779002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270970
property_value: exactMatch Orphanet:97239
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy xsd:anyURI {source="GARD:0012162"}

[Term]
id: MONDO:0019949
name: zebra body myopathy
subset: ordo_disease {source="Orphanet:97240"}
xref: ICD10:G71.2 {source="ORDO:97240/attributed", source="ORDO:97240/ntbt", source="Orphanet:97240"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:97240 {source="MONDO:equivalentTo"}
xref: SCTID:34513009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0270969 {source="MONDO:equivalentTo", source="ORDO:97240/e", source="Orphanet:97240"}
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
property_value: exactMatch http://identifiers.org/snomedct/34513009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270969
property_value: exactMatch Orphanet:97240

[Term]
id: MONDO:0019950
name: congenital muscular dystrophy
def: "and Nesprin-1-related CMD; see these terms)." [Orphanet:97242]
subset: ordo_group_of_disorders {source="Orphanet:97242"}
synonym: "CMD" EXACT [Orphanet:97242]
synonym: "congenital MD" RELATED [GARD:0009138]
synonym: "MDC" EXACT [Orphanet:97242]
xref: DOID:0050557 {source="MONDO:equivalentTo"}
xref: EFO:0006819 {source="MONDO:equivalentTo"}
xref: GARD:0009138 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="ORDO:97242/ntbt", source="ORDO:97242/inclusion", source="Orphanet:97242"}
xref: ICD9:359.0 {source="DOID:0050557"}
xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"}
xref: SCTID:240059009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0699743 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="ORDO:97242/e", source="Orphanet:97242"}
is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy
property_value: closeMatch http://identifiers.org/snomedct/111501005
property_value: closeMatch http://identifiers.org/snomedct/193221009
property_value: closeMatch http://identifiers.org/snomedct/193224001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2937300
property_value: exactMatch DOID:0050557
property_value: exactMatch http://identifiers.org/snomedct/240059009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699743
property_value: exactMatch Orphanet:97242

[Term]
id: MONDO:0019951
name: rigid spine syndrome
def: "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." [Orphanet:97244]
subset: ordo_disease {source="Orphanet:97244"}
synonym: "desmin-related myopathies with Mallory bodies" RELATED [GARD:0004723]
synonym: "muscular dystrophy, congenital, merosin positive with early spine rigidity" RELATED [GARD:0004723]
synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244]
synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723]
xref: GARD:0004723 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="Orphanet:97244", source="ORDO:97244/attributed", source="ORDO:97244/ntbt"}
xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="ORDO:97244/e"}
xref: Orphanet:97244 {source="MONDO:equivalentTo"}
is_a: MONDO:0016187 {source="Orphanet:97244"} ! qualitative or quantitative defects of desmin
is_a: MONDO:0016197 {source="Orphanet:97244"} ! qualitative or quantitative defects of selenoprotein N1
is_a: MONDO:0019950 {source="MONDOLEX:0019951", source="Orphanet:97244"} ! congenital muscular dystrophy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/mesh/C535683
property_value: exactMatch Orphanet:97244

[Term]
id: MONDO:0019952
name: congenital myopathy
subset: ordo_group_of_disorders {source="Orphanet:97245"}
synonym: "batten Turner congenital myopathy" RELATED [GARD:0005898]
synonym: "myopathy congenital" RELATED [GARD:0005898]
xref: DOID:0080100 {source="MONDO:equivalentTo"}
xref: GARD:0005898 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G71.2 {source="Orphanet:97245", source="ORDO:97245/specific", source="ORDO:97245/e"}
xref: MedDRA:10062547 {source="Orphanet:97245", source="ORDO:97245/e"}
xref: Orphanet:97245 {source="MONDO:equivalentTo"}
is_a: MONDO:0016110 {source="Orphanet:97245"} ! non-dystrophic myopathy
property_value: exactMatch DOID:0080100
property_value: exactMatch http://identifiers.org/meddra/10062547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270960
property_value: exactMatch Orphanet:97245

[Term]
id: MONDO:0019953
name: mega-cisterna magna
subset: ordo_morphological_anomaly {source="Orphanet:97252"}
xref: ICD10:Q07.8 {source="ORDO:97252/ntbt", source="Orphanet:97252"}
xref: Orphanet:97252 {source="MONDO:equivalentTo"}
is_a: MONDO:0020134 {source="Orphanet:97252"} ! cystic malformation of the posterior fossa
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3164501
property_value: exactMatch Orphanet:97252

[Term]
id: MONDO:0019954
name: pancreatic neuroendocrine tumor
def: "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms)." [Orphanet:97253]
subset: ordo_group_of_disorders {source="Orphanet:97253"}
synonym: "islet cell tumor" EXACT [NCIT:C27720]
synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720]
synonym: "islet cell tumors of the pancreas" EXACT [NCIT:C27720]
synonym: "neuroendocrine tumor of pancreas" RELATED [Orphanet:97253]
synonym: "pancreatic endocrine tumor" RELATED [GARD:0013034]
synonym: "pancreatic NET" EXACT [NCIT:C27720]
synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720]
synonym: "PANET" RELATED [ONCOTREE:PANET]
synonym: "well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C27720]
synonym: "well differentiated pancreatic endocrine tumor" EXACT [NCIT:C27720]
synonym: "well-differentiated NEN of pancreas" EXACT [Orphanet:97253]
synonym: "well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:97253]
synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253]
synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:97253]
xref: EFO:1000045 {source="MONDO:equivalentTo"}
xref: GARD:0013034 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E16.8 {source="ORDO:97253/ntbt", source="Orphanet:97253"}
xref: ICDO:8150/1 {source="NCIT:C27720"}
xref: NCIT:C27720 {source="EFO:1000045", source="MONDO:equivalentTo"}
xref: ONCOTREE:PANET {source="MONDO:equivalentTo"}
xref: Orphanet:97253 {source="MONDO:equivalentTo"}
is_a: MONDO:0000386 {source="NCIT:C27720", source="OWLReasoner:2017"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0005815 {source="NCIT:C27720", source="Orphanet:97253"} ! pancreatic neuroendocrine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242363
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1337011
property_value: exactMatch NCIT:C27720
property_value: exactMatch Orphanet:97253

[Term]
id: MONDO:0019955
name: GRFoma
def: "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms)." [Orphanet:97261]
subset: ordo_disease {source="Orphanet:97261"}
synonym: "GRF tumor" EXACT [Orphanet:97261]
synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261]
xref: ICD10:E16.8 {source="ORDO:97261/ntbt", source="Orphanet:97261"}
xref: Orphanet:97261 {source="MONDO:equivalentTo"}
xref: UMLS:CN206877 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019954 {source="Orphanet:97261", source="Orphanet:97261/inferred"} ! pancreatic neuroendocrine tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206877
property_value: exactMatch Orphanet:97261

[Term]
id: MONDO:0019956
name: encephalitis
def: "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." [NCIT:C26760]
comment: Editor note: consider merging with brain inflammation
subset: ordo_group_of_disorders {source="Orphanet:97275"}
synonym: "brain inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9588 {source="MONDO:equivalentTo"}
xref: ICD10:A85 {source="MONDO:equivalentTo"}
xref: ICD9:323.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:323.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10014581 {source="ORDO:97275/e", source="Orphanet:97275"}
xref: MESH:D004660 {source="MONDO:equivalentTo", source="ORDO:97275/e", source="DOID:9588", source="Orphanet:97275"}
xref: NCIT:C26760 {source="MONDO:equivalentTo", source="DOID:9588"}
xref: Orphanet:97275 {source="MONDO:equivalentTo"}
xref: SCTID:45170000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9588"}
xref: UMLS:C0014038 {source="NCIT:C26760", source="MONDO:equivalentTo", source="ORDO:97275/e", source="DOID:9588", source="Orphanet:97275"}
is_a: MONDO:0015144 {source="MONDO:Redundant", source="Orphanet:97275"} ! brain inflammatory disease
is_a: MONDO:0020683 ! acute disease
relationship: excluded_subClassOf MONDO:0005108 {source="DOID:9588"} ! viral infectious disease
property_value: closeMatch http://identifiers.org/snomedct/192736002
property_value: closeMatch http://identifiers.org/snomedct/267578009
property_value: closeMatch http://identifiers.org/snomedct/267682000
property_value: exactMatch DOID:9588
property_value: exactMatch http://identifiers.org/meddra/10014581
property_value: exactMatch http://identifiers.org/mesh/D004660
property_value: exactMatch http://identifiers.org/snomedct/45170000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014038
property_value: exactMatch NCIT:C26760
property_value: exactMatch Orphanet:97275

[Term]
id: MONDO:0019957
name: PPoma
def: "PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term)." [Orphanet:97278]
subset: ordo_disease {source="Orphanet:97278"}
synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453]
synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453]
synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278]
xref: ICD10:E16.8 {source="Orphanet:97278", source="ORDO:97278/ntbt"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8152/1 {source="NCIT:C67453"}
xref: NCIT:C67453 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:97278 {source="MONDO:equivalentTo"}
xref: SCTID:255039001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0346407 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1882278 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C67453"}
xref: UMLS:CN206879 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019954 {source="Orphanet:97278", source="Orphanet:97278/inferred"} ! pancreatic neuroendocrine tumor
property_value: exactMatch http://identifiers.org/snomedct/255039001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346407
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1882278
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206879
property_value: exactMatch NCIT:C67453
property_value: exactMatch Orphanet:97278

[Term]
id: MONDO:0019958
name: obsolete insulinoma
is_obsolete: true
replaced_by: MONDO:0005048

[Term]
id: MONDO:0019959
name: glucagonoma
def: "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." [Orphanet:97280]
subset: gard_rare
subset: ordo_disease {source="Orphanet:97280"}
synonym: "glucagonoma" EXACT [NCIT:C95597]
synonym: "glucagonoma syndrome" EXACT [Orphanet:97280]
synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597]
xref: EFO:1000441 {source="MONDO:equivalentTo"}
xref: GARD:0002496 {source="MONDO:equivalentTo"}
xref: ICD10:E16.8 {source="ORDO:97280/ntbt", source="Orphanet:97280"}
xref: MedDRA:10018404 {source="ORDO:97280/e", source="Orphanet:97280"}
xref: MESH:D005935 {source="ORDO:97280/e", source="MONDO:equivalentTo", source="Orphanet:97280", source="MONDO:ontobio"}
xref: NCIT:C95597 {source="MONDO:equivalentTo"}
xref: Orphanet:97280 {source="MONDO:equivalentTo"}
xref: SCTID:16424000 {source="MONDO:kboom-pr-0.88/0.77/0.05", source="MONDO:equivalentTo"}
xref: UMLS:C0017689 {source="GARD:0002496", source="ORDO:97280/e", source="MONDO:equivalentTo", source="Orphanet:97280"}
is_a: MONDO:0019954 {source="NCIT:C95597/inferred", source="Orphanet:97280", source="Orphanet:97280/inferred"} ! pancreatic neuroendocrine tumor
property_value: exactMatch http://identifiers.org/meddra/10018404
property_value: exactMatch http://identifiers.org/mesh/D005935
property_value: exactMatch http://identifiers.org/snomedct/16424000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017689
property_value: exactMatch NCIT:C95597
property_value: exactMatch Orphanet:97280

[Term]
id: MONDO:0019960
name: VIPoma
def: "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." [Orphanet:97282]
subset: ordo_disease {source="Orphanet:97282"}
synonym: "Diarrheogenic islet cell tumor" EXACT [Orphanet:97282]
synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574]
synonym: "pancreatic cholera" EXACT [GARD:0003787, Orphanet:97282]
synonym: "pancreatic vipoma" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide (VIP) tumor" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide producing tumor" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide secreting neoplasm" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide-producing tumor" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574]
synonym: "Verner-Morrison syndrome" EXACT [Orphanet:97282]
synonym: "VIP producing neoplasm" EXACT [NCIT:C26749]
synonym: "VIP- secreting neoplasm" EXACT [NCIT:C26749]
synonym: "VIP- secreting tumor" EXACT [DOID:5574, NCIT:C26749]
synonym: "VIP-producing NET" EXACT [NCIT:C26749]
synonym: "VIP-producing neuroendocrine tumor" EXACT [NCIT:C26749]
synonym: "VIP-secreting tumor" EXACT [Orphanet:97282]
synonym: "VIPoma" EXACT [NCIT:C26749]
synonym: "VIPoma, malignant" EXACT [DOID:5574]
synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" RELATED [GARD:0003787]
synonym: "watery diarrhea-hypokalemia-achlorhydria syndrome" EXACT [Orphanet:97282]
synonym: "WDHA syndrome" EXACT [Orphanet:97282]
xref: DOID:5574 {source="MONDO:equivalentTo"}
xref: EFO:1000622 {source="MONDO:equivalentTo"}
xref: GARD:0003787 {source="MONDO:equivalentTo"}
xref: GARD:0005493 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E16.8 {source="ORDO:97282/ntbt", source="Orphanet:97282"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8155/1 {source="NCIT:C26749"}
xref: MedDRA:10047430 {source="ORDO:97282/e", source="Orphanet:97282"}
xref: MESH:D003969 {source="DOID:5574", source="MONDO:equivalentTo", source="ORDO:97282/e", source="Orphanet:97282"}
xref: NCIT:C26749 {source="DOID:5574", source="MONDO:kboom-pr-0.89/0.74/0.36", source="MONDO:equivalentTo"}
xref: Orphanet:97282 {source="MONDO:equivalentTo"}
xref: SCTID:253005002 {source="DOID:5574", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.83/0.57"}
xref: UMLS:C0011993 {source="DOID:5574", source="MONDO:equivalentTo", source="ORDO:97282/e", source="Orphanet:97282", source="NCIT:C26749"}
is_a: MONDO:0019954 {source="MONDOLEX:0019960", source="Orphanet:97282", source="Orphanet:97282/inferred"} ! pancreatic neuroendocrine tumor
relationship: disease_has_feature MONDO:0004058 {source="Wikidata"} ! pancreatic cholera
property_value: closeMatch http://identifiers.org/snomedct/447643008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0086768
property_value: exactMatch DOID:5574
property_value: exactMatch http://identifiers.org/meddra/10047430
property_value: exactMatch http://identifiers.org/mesh/D003969
property_value: exactMatch http://identifiers.org/snomedct/253005002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011993
property_value: exactMatch NCIT:C26749
property_value: exactMatch Orphanet:97282

[Term]
id: MONDO:0019961
name: obsolete somatostatinoma
is_obsolete: true
replaced_by: MONDO:0006976

[Term]
id: MONDO:0019962
name: thyroid lymphoma
def: "A lymphoma primarily involving the thyroid gland." [NCIT:C5265]
subset: ordo_disease {source="Orphanet:97285"}
synonym: "lymphoma of the thyroid" EXACT [NCIT:C5265]
synonym: "lymphoma of the thyroid gland" EXACT [NCIT:C5265]
synonym: "lymphoma of thyroid" EXACT [NCIT:C5265]
synonym: "lymphoma of thyroid gland" EXACT [NCIT:C5265]
synonym: "primary thyroid gland lymphoma" EXACT [NCIT:C5265]
synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265]
synonym: "thyroid lymphoma" EXACT [NCIT:C5265]
xref: DOID:10011 {source="MONDO:equivalentTo"}
xref: ICD10:C85.7 {source="ORDO:97285/ntbt", source="Orphanet:97285"}
xref: NCIT:C5265 {source="MONDO:equivalentTo", source="DOID:10011"}
xref: Orphanet:97285 {source="MONDO:equivalentTo"}
xref: UMLS:C1336753 {source="NCIT:C5265", source="MONDO:equivalentTo", source="DOID:10011"}
is_a: MONDO:0002108 {source="DOID:10011", source="NCIT:C5265"} ! thyroid cancer
is_a: MONDO:0017207 {source="Orphanet:97285"} ! primary organ-specific lymphoma
property_value: exactMatch DOID:10011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336753
property_value: exactMatch NCIT:C5265
property_value: exactMatch Orphanet:97285

[Term]
id: MONDO:0019963
name: bronchial endocrine tumor
def: "A neuroendocrine neoplasm that involves the bronchus." [MONDO:patterns/location]
subset: ordo_disease {source="Orphanet:97287"}
synonym: "bronchial NET" EXACT [Orphanet:97287]
synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287]
synonym: "bronchus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "bronchus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
xref: ICD10:D38.1 {source="ORDO:97287/ntbt", source="Orphanet:97287"}
xref: Orphanet:97287 {source="MONDO:equivalentTo"}
xref: UMLS:CN206886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002807 ! bronchial neoplasm (disease)
is_a: MONDO:0015081 {source="Orphanet:97287"} ! neuroendocrine tumor with other location
is_a: MONDO:0015119 {source="Orphanet:97287"} ! bronchopulmonary tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206886
property_value: exactMatch Orphanet:97287

[Term]
id: MONDO:0019964
name: thymic neuroendocrine tumor
def: "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." [Orphanet:97289]
subset: ordo_disease {source="Orphanet:97289"}
synonym: "neuroendocrine neoplasm of thymus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: ICD10:D38.4 {source="Orphanet:97289", source="ORDO:97289/ntbt"}
xref: ONCOTREE:TNET {source="MONDO:equivalentTo"}
xref: Orphanet:97289 {source="MONDO:equivalentTo"}
xref: UMLS:CN206887 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="ONCOTREE:TNET", source="Orphanet:97289"} ! thymus neoplasm
is_a: MONDO:0019496 {source="MONDO:Redundant", source="Orphanet:97289", source="Orphanet:97289/inferred"} ! neuroendocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206887
property_value: exactMatch Orphanet:97289

[Term]
id: MONDO:0019965
name: obsolete rare benign ovarian tumor
def: "Any of the forms of ovarian benign neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97293"}
synonym: "rare ovarian benign neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:97293 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:97293
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000646
consider: UMLS:C0004997 {source="Orphanet:97293"}

[Term]
id: MONDO:0019966
name: obsolete thoracic outlet syndrome
is_obsolete: true
replaced_by: MONDO:0005979

[Term]
id: MONDO:0019967
name: Kienbock disease
def: "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." [Orphanet:97332]
subset: ordo_disease {source="Orphanet:97332"}
synonym: "aseptic necrosis of the lunate bone" EXACT [Orphanet:97332]
synonym: "bilateral Kienbock's disease" RELATED [GARD:0009690]
synonym: "Kienbock's disease" RELATED [GARD:0009690]
synonym: "Lunatomalacia" EXACT [Orphanet:97332]
synonym: "osteochondritis of the lunate bone" EXACT [Orphanet:97332]
synonym: "Osteochondrosis of the lunate bone" EXACT [Orphanet:97332]
xref: GARD:0009690 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:M92.2 {source="Orphanet:97332", source="ORDO:97332/ntbt"}
xref: ICD10:M93.2 {source="Orphanet:97332", source="ORDO:97332/ntbt"}
xref: MedDRA:10064242 {source="Orphanet:97332", source="ORDO:97332/e"}
xref: Orphanet:97332 {source="MONDO:equivalentTo"}
is_a: MONDO:0018381 {source="Orphanet:97332"} ! osteochondrosis
property_value: exactMatch http://identifiers.org/meddra/10064242
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022682
property_value: exactMatch Orphanet:97332

[Term]
id: MONDO:0019968
name: obsolete Osgood-Schlatter disease
is_obsolete: true
replaced_by: MONDO:0004241

[Term]
id: MONDO:0019969
name: panner disease
def: "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." [Orphanet:97336]
subset: ordo_disease {source="Orphanet:97336"}
synonym: "aseptic necrosis of the capital humerus" EXACT [Orphanet:97336]
synonym: "Osteochondrosis of the capital humerus" EXACT [Orphanet:97336]
xref: ICD10:M92.0 {source="Orphanet:97336", source="ORDO:97336/ntbt"}
xref: Orphanet:97336 {source="MONDO:equivalentTo"}
xref: UMLS:CN206896 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018381 {source="Orphanet:97336"} ! osteochondrosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206896
property_value: exactMatch Orphanet:97336

[Term]
id: MONDO:0019970
name: Sinding-Larsen-Johansson disease
def: "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella." [Orphanet:97337]
subset: ordo_disease {source="Orphanet:97337"}
synonym: "aseptic necrosis of patella" EXACT [Orphanet:97337]
synonym: "Osteochondrosis of patella" EXACT [Orphanet:97337]
xref: ICD10:M92.4 {source="Orphanet:97337", source="ORDO:97337/ntbt"}
xref: MedDRA:10063585 {source="ORDO:97337/e", source="Orphanet:97337"}
xref: Orphanet:97337 {source="MONDO:equivalentTo"}
xref: UMLS:CN206897 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018381 {source="Orphanet:97337"} ! osteochondrosis
property_value: exactMatch http://identifiers.org/meddra/10063585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1504517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206897
property_value: exactMatch Orphanet:97337

[Term]
id: MONDO:0019971
name: melanoma of soft tissue
subset: ordo_disease {source="Orphanet:97338"}
synonym: "clear cell sarcoma of the tendons and aponeuroses" EXACT [Orphanet:97338]
xref: Orphanet:97338 {source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="Orphanet:97338"} ! soft tissue neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: exactMatch Orphanet:97338

[Term]
id: MONDO:0019972
name: dural sinus malformation
subset: ordo_morphological_anomaly {source="Orphanet:97339"}
synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339]
synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339]
xref: ICD10:Q28.3 {source="ORDO:97339/ntbt", source="Orphanet:97339"}
xref: Orphanet:97339 {source="MONDO:equivalentTo"}
is_a: MONDO:0001256 {source="Orphanet:97339"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015145 {source="Orphanet:97339"} ! neurovascular malformation
property_value: exactMatch Orphanet:97339

[Term]
id: MONDO:0019973
name: persistent placoid maculopathy
def: "Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision." [Orphanet:97341]
subset: ordo_disease {source="Orphanet:97341"}
xref: Orphanet:97341 {source="MONDO:equivalentTo"}
xref: SCTID:719297006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4304823 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/719297006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304823
property_value: exactMatch Orphanet:97341

[Term]
id: MONDO:0019974
name: obsolete postencephalitic parkinsonism
is_obsolete: true
replaced_by: MONDO:0001945

[Term]
id: MONDO:0019975
name: pellagra
def: "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." [Orphanet:97352]
subset: gard_rare {source="GARD:0010014"}
subset: ordo_disease {source="Orphanet:97352"}
synonym: "niacin deficiency" EXACT [DOID:8457]
synonym: "niacin-tryptophan deficiency" EXACT [DOID:8457, MTHICD9_2006:265.2]
synonym: "pellagra" EXACT [DOID:8457]
xref: COHD:434310 {source="MONDO:equivalentTo"}
xref: DOID:8457 {source="MONDO:equivalentTo"}
xref: EFO:0008570 {source="MONDO:equivalentTo"}
xref: GARD:0010014 {source="MONDO:equivalentTo"}
xref: ICD10:E52 {source="DOID:8457", source="ORDO:97352/e", source="Orphanet:97352"}
xref: ICD9:265.2 {source="DOID:8457"}
xref: MedDRA:10029400 {source="ORDO:97352/e", source="Orphanet:97352"}
xref: MESH:D010383 {source="DOID:8457", source="MONDO:equivalentTo", source="ORDO:97352/e", source="MONDO:ontobio", source="Orphanet:97352"}
xref: Orphanet:97352 {source="MONDO:equivalentTo"}
xref: SCTID:418279001 {source="DOID:8457", source="MONDO:kboom-pr-0.88/0.74/0.14", source="MONDO:equivalentTo"}
xref: UMLS:C0030783 {source="DOID:8457", source="MONDO:equivalentTo", source="ORDO:97352/e", source="Orphanet:97352"}
xref: UMLS:C4317126 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006873 {source="DOID:8457", source="MESH:D010383/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
is_a: MONDO:0019546 {source="Orphanet:97352"} ! other acquired skin disease
property_value: closeMatch http://identifiers.org/snomedct/154725000
property_value: closeMatch http://identifiers.org/snomedct/238127001
property_value: closeMatch http://identifiers.org/snomedct/267491008
property_value: closeMatch http://identifiers.org/snomedct/418186002
property_value: closeMatch http://identifiers.org/snomedct/56550003
property_value: exactMatch DOID:8457
property_value: exactMatch http://identifiers.org/meddra/10029400
property_value: exactMatch http://identifiers.org/mesh/D010383
property_value: exactMatch http://identifiers.org/snomedct/418279001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317126
property_value: exactMatch Orphanet:97352
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10014/pellagra xsd:anyURI {source="GARD:0010014"}

[Term]
id: MONDO:0019976
name: dementia pugilistica
def: "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." [MESH:D020208]
subset: ordo_disease {source="Orphanet:97353"}
synonym: "Boxer's dementia" EXACT [Orphanet:97353]
synonym: "chronic traumatic encephalopathy" EXACT [Orphanet:97353]
synonym: "punch-drunk syndrome" EXACT [Orphanet:97353]
xref: ICD10:F01.8 {source="ORDO:97353/ntbt", source="Orphanet:97353"}
xref: MESH:D020208 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:97353 {source="MONDO:equivalentTo"}
xref: SCTID:230283005 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
xref: UMLS:CN206907 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0001627 {source="Orphanet:97353"} ! dementia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019515"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D020208
property_value: exactMatch http://identifiers.org/snomedct/230283005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206907
property_value: exactMatch Orphanet:97353

[Term]
id: MONDO:0019977
name: parkinsonism with dementia of Guadeloupe
def: "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." [Orphanet:97355]
subset: ordo_disease {source="Orphanet:97355"}
xref: ICD10:F02.3* {source="Orphanet:97355", source="ORDO:97355/ntbt"}
xref: ICD10:G20+ {source="Orphanet:97355", source="ORDO:97355/ntbt"}
xref: Orphanet:97355 {source="MONDO:equivalentTo"}
xref: SCTID:715737004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:CN206908 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001627 {source="Orphanet:97355"} ! dementia (disease)
is_a: MONDO:0017635 {source="Orphanet:97355"} ! parkinsonian syndrome due to neurodegenerative disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019515"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/715737004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206908
property_value: exactMatch Orphanet:97355

[Term]
id: MONDO:0019978
name: Robinow syndrome
def: "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:97360]
subset: ordo_malformation_syndrome {source="Orphanet:97360"}
synonym: "acral dysostosis with facial and genital abnormalities" EXACT [DOID:0060254, Orphanet:97360]
synonym: "costovertebral segmentation defect with mesomelia (formerly)" RELATED [GARD:0000312]
synonym: "Covesdem syndrome (formerly)" RELATED [GARD:0000312]
synonym: "fetal face syndrome" EXACT [DOID:0060254, Orphanet:97360]
synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [Orphanet:97360]
synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360]
synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360]
xref: DOID:0060254 {source="MONDO:equivalentTo"}
xref: GARD:0000312 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.1 {source="ORDO:97360/ntbt", source="DOID:0060254", source="Orphanet:97360", source="ORDO:97360/inclusion"}
xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIMPS:268310 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:97360 {source="DOID:0060254", source="MONDO:equivalentTo"}
xref: UMLS:C0265205 {source="DOID:0060254", source="MONDO:equivalentTo", source="ORDO:97360/e", source="Orphanet:97360", source="NCIT:C85048"}
xref: UMLS:CN776872 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015329 {source="Orphanet:97360"} ! malformation syndrome with short stature
is_a: MONDO:0019697 {source="Orphanet:97360"} ! mesomelic and rhizo-mesomelic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043007 {source="Orphanet:97360"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: closeMatch http://identifiers.org/mesh/C562492
property_value: exactMatch DOID:0060254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265205
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776872
property_value: exactMatch NCIT:C85048
property_value: exactMatch Orphanet:97360

[Term]
id: MONDO:0019979
name: renal hypoplasia, unilateral
def: "Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." [Orphanet:97361]
subset: ordo_clinical_subtype {source="Orphanet:97361"}
xref: ICD10:Q60.3 {source="MONDO:equivalentTo", source="ORDO:97361/e", source="ORDO:97361/specific", source="Orphanet:97361"}
xref: Orphanet:97361 {source="MONDO:equivalentTo"}
is_a: MONDO:0019637 {source="Orphanet:97361"} ! renal hypoplasia (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431691
property_value: exactMatch Orphanet:97361

[Term]
id: MONDO:0019980
name: renal hypoplasia, bilateral
def: "Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." [Orphanet:97362]
subset: ordo_clinical_subtype {source="Orphanet:97362"}
xref: ICD10:Q60.4 {source="MONDO:equivalentTo", source="ORDO:97362/specific", source="ORDO:97362/e", source="Orphanet:97362"}
xref: Orphanet:97362 {source="MONDO:equivalentTo"}
xref: SCTID:268232000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"}
is_a: MONDO:0019637 {source="Orphanet:97362", source="linkedlifedata", source="linkedlifedata/inferred"} ! renal hypoplasia (disease)
property_value: exactMatch http://identifiers.org/snomedct/268232000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431692
property_value: exactMatch Orphanet:97362

[Term]
id: MONDO:0019981
name: unilateral multicystic dysplastic kidney
def: "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." [Orphanet:97363]
subset: ordo_clinical_subtype {source="Orphanet:97363"}
synonym: "unilateral MCDK" EXACT [Orphanet:97363]
synonym: "unilateral multicystic renal dysplasia" EXACT [Orphanet:97363]
xref: ICD10:Q61.4 {source="ORDO:97363/attributed", source="ORDO:97363/ntbt", source="Orphanet:97363"}
xref: Orphanet:97363 {source="MONDO:equivalentTo"}
is_a: MONDO:0015988 {source="Orphanet:97363"} ! multicystic dysplastic kidney
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567426
property_value: exactMatch Orphanet:97363

[Term]
id: MONDO:0019982
name: bilateral multicystic dysplastic kidney
def: "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." [Orphanet:97364]
subset: ordo_clinical_subtype {source="Orphanet:97364"}
synonym: "bilateral MCDK" EXACT [Orphanet:97364]
synonym: "bilateral multicystic renal dysplasia" EXACT [Orphanet:97364]
synonym: "MRD" RELATED [GARD:0009517]
synonym: "Pelvi-ureteric junction obstruction" RELATED [GARD:0009517]
synonym: "PUJO" RELATED [GARD:0009517]
xref: GARD:0009517 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q61.4 {source="ORDO:97364/attributed", source="ORDO:97364/ntbt", source="Orphanet:97364"}
xref: Orphanet:97364 {source="MONDO:equivalentTo"}
xref: SCTID:717749002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.29"}
is_a: MONDO:0015988 {source="Orphanet:97364", source="linkedlifedata"} ! multicystic dysplastic kidney
property_value: exactMatch http://identifiers.org/mesh/C537373
property_value: exactMatch http://identifiers.org/snomedct/717749002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567427
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840451
property_value: exactMatch Orphanet:97364

[Term]
id: MONDO:0019983
name: multiloculated renal cyst
subset: ordo_morphological_anomaly {source="Orphanet:97366"}
synonym: "multilocular cyst of the kidney" EXACT [Orphanet:97366]
synonym: "multilocular renal cyst" EXACT [Orphanet:97366]
xref: Orphanet:97366 {source="MONDO:equivalentTo"}
xref: SCTID:86463003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.19"}
is_a: MONDO:0021163 {source="Orphanet:97366"} ! kidney neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/86463003
property_value: exactMatch Orphanet:97366

[Term]
id: MONDO:0019984
name: renal tubular dysgenesis due to twin-twin transfusion
def: "'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS; see this term) is an acquired form of renal tubular dysgenesis (see this term) that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'" [Orphanet:97367]
subset: ordo_etiological_subtype {source="Orphanet:97367"}
xref: ICD10:Q63.8 {source="Orphanet:97367", source="ORDO:97367/ntbt"}
xref: Orphanet:97367 {source="MONDO:equivalentTo"}
xref: UMLS:CN206914 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206914
property_value: exactMatch Orphanet:97367

[Term]
id: MONDO:0019985
name: drug-related renal tubular dysgenesis
subset: ordo_etiological_subtype {source="Orphanet:97368"}
xref: ICD10:Q63.8 {source="Orphanet:97368", source="ORDO:97368/ntbt"}
xref: Orphanet:97368 {source="MONDO:equivalentTo"}
is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97368"} ! renal tubular dysgenesis
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch Orphanet:97368

[Term]
id: MONDO:0019986
name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
subset: ordo_histopathological_subtype {source="Orphanet:97555"}
xref: ICD10:N04.8 {source="Orphanet:97555", source="ORDO:97555/attributed", source="ORDO:97555/ntbt"}
xref: Orphanet:97555 {source="MONDO:equivalentTo"}
xref: UMLS:CN206920 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019401 {source="Orphanet:97555"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206920
property_value: exactMatch Orphanet:97555

[Term]
id: MONDO:0019987
name: congenital and infantile nephrotic syndrome
subset: ordo_group_of_disorders {source="Orphanet:97556"}
xref: Orphanet:97556 {source="MONDO:equivalentTo"}
is_a: MONDO:0005377 {source="MONDO:cjm", source="MONDOLEX:0019987"} ! nephrotic syndrome
is_a: MONDO:0015163 {source="Orphanet:97556"} ! primary glomerular disease
property_value: exactMatch Orphanet:97556

[Term]
id: MONDO:0019988
name: pauci-immune glomerulonephritis with ANCA
def: "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis (see this term), and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." [Orphanet:97563]
subset: ordo_clinical_subtype {source="Orphanet:97563"}
synonym: "pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody" EXACT [Orphanet:97563]
xref: ICD10:N05.7 {source="Orphanet:97563", source="ORDO:97563/ntbt"}
xref: Orphanet:97563 {source="MONDO:equivalentTo"}
xref: UMLS:CN206923 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019641 {source="MONDOLEX:0019988", source="Orphanet:97563"} ! pauci-immune glomerulonephritis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206923
property_value: exactMatch Orphanet:97563

[Term]
id: MONDO:0019989
name: pauci-immune glomerulonephritis without ANCA
def: "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis (see this term) and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA (see this term), patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." [Orphanet:97564]
subset: ordo_clinical_subtype {source="Orphanet:97564"}
synonym: "antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis" EXACT [Orphanet:97564]
synonym: "pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody" EXACT [Orphanet:97564]
xref: ICD10:N05.7 {source="Orphanet:97564", source="ORDO:97564/ntbt"}
xref: Orphanet:97564 {source="MONDO:equivalentTo"}
is_a: MONDO:0019641 {source="MONDOLEX:0019989", source="Orphanet:97564"} ! pauci-immune glomerulonephritis
property_value: exactMatch Orphanet:97564

[Term]
id: MONDO:0019990
name: non-amyloid fibrillary glomerulopathy
def: "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases." [Orphanet:97566]
subset: ordo_disease {source="Orphanet:97566"}
synonym: "Congo red-negative amyloidosis-like glomerulopathy" EXACT [Orphanet:97566]
synonym: "fibrillary glomerulonephritis" RELATED [GARD:0012740]
synonym: "non-amyloid fibrillary glomerulonephritis" EXACT [Orphanet:97566]
xref: GARD:0012740 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:N03.6 {source="Orphanet:97566", source="ORDO:97566/ntbt"}
xref: Orphanet:97566 {source="MONDO:equivalentTo"}
xref: SCTID:718192000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C4273674 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019605 {source="Orphanet:97566"} ! immunotactoid or fibrillary glomerulopathy
property_value: exactMatch http://identifiers.org/snomedct/718192000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273674
property_value: exactMatch Orphanet:97566

[Term]
id: MONDO:0019991
name: immunotactoid glomerulopathy
def: "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases." [Orphanet:97567]
subset: gard_rare {source="GARD:0012048"}
subset: ordo_disease {source="Orphanet:97567"}
synonym: "FGN" EXACT [NCIT:C96182]
synonym: "fibrillary glomerulonephritis" EXACT [NCIT:C96182]
synonym: "fibrillary glomerulonephritis" RELATED [NCIT:C96182]
synonym: "Immunotactoid glomerulonephritis" EXACT [Orphanet:97567]
xref: GARD:0012048 {source="MONDO:equivalentTo"}
xref: ICD10:N03.6 {source="Orphanet:97567", source="ORDO:97567/ntbt"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C96182 {source="MONDO:equivalentTo"}
xref: Orphanet:97567 {source="MONDO:equivalentTo"}
xref: SCTID:73305009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.98"}
is_a: MONDO:0002462 {source="MONDOLEX:0019991", source="NCIT:C96182", source="linkedlifedata"} ! glomerulonephritis (disease)
is_a: MONDO:0019605 {source="Orphanet:97567"} ! immunotactoid or fibrillary glomerulopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268749
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2242534
property_value: exactMatch http://identifiers.org/snomedct/73305009
property_value: exactMatch NCIT:C96182
property_value: exactMatch Orphanet:97567
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy xsd:anyURI {source="GARD:0012048"}

[Term]
id: MONDO:0019992
name: pseudohypoparathyroidism
def: "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)." [Orphanet:97593]
subset: gard_rare {source="GARD:0010758"}
subset: ordo_group_of_disorders {source="Orphanet:97593"}
xref: DOID:4184 {source="MONDO:equivalentTo"}
xref: GARD:0010758 {source="MONDO:equivalentTo"}
xref: ICD10:E20.1 {source="MONDO:equivalentTo", source="ORDO:97593/specific", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037126 {source="ORDO:97593/e", source="Orphanet:97593"}
xref: MESH:D011547 {source="MONDO:equivalentTo", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"}
xref: NCIT:C99027 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:4184"}
xref: Orphanet:97593 {source="MONDO:equivalentTo"}
xref: SCTID:58976002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4184"}
xref: UMLS:C0033806 {source="MONDO:equivalentTo", source="NCIT:C99027", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"}
is_a: MONDO:0004689 {source="DOID:4184", source="MESH:D011547"} ! inborn metal metabolism disorder
is_a: MONDO:0015327 {source="Orphanet:97593"} ! developmental anomaly of metabolic origin
is_a: MONDO:0015962 {source="Orphanet:97593"} ! inherited renal tubular disease
is_a: MONDO:0016165 {source="Orphanet:97593"} ! genetic hypoparathyroidism
is_a: MONDO:0019744 {source="Orphanet:97593"} ! rare renal tubular disease
property_value: closeMatch http://identifiers.org/snomedct/154697005
property_value: closeMatch http://identifiers.org/snomedct/190867002
property_value: closeMatch http://identifiers.org/snomedct/267479004
property_value: exactMatch DOID:4184
property_value: exactMatch http://identifiers.org/meddra/10037126
property_value: exactMatch http://identifiers.org/mesh/D011547
property_value: exactMatch http://identifiers.org/snomedct/58976002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033806
property_value: exactMatch NCIT:C99027
property_value: exactMatch Orphanet:97593
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism xsd:anyURI {source="GARD:0010758"}

[Term]
id: MONDO:0019993
name: congenital renal artery stenosis
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:97598"}
synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598]
xref: ICD10:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="ORDO:97598/e"}
xref: Orphanet:97598 {source="MONDO:equivalentTo"}
xref: SCTID:271432005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019748 {source="Orphanet:97598"} ! rare cause of hypertension
property_value: exactMatch http://identifiers.org/snomedct/271432005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0495523
property_value: exactMatch Orphanet:97598
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1741 xsd:string

[Term]
id: MONDO:0019994
name: maternal uniparental disomy of chromosome 13
def: "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:97678]
subset: ordo_malformation_syndrome {source="Orphanet:97678"}
synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678]
synonym: "UPD(13)mat" EXACT [Orphanet:97678]
xref: ICD10:Q99.8 {source="Orphanet:97678", source="ORDO:97678/attributed", source="ORDO:97678/ntbt"}
xref: Orphanet:97678 {source="MONDO:equivalentTo"}
xref: UMLS:CN036719 {source="MONDO:equivalentTo"}
is_a: MONDO:0020056 {source="Orphanet:97678"} ! uniparental disomy of maternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036719
property_value: exactMatch Orphanet:97678

[Term]
id: MONDO:0019995
name: peripheral resistance to thyroid hormones
def: "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." [Orphanet:97927]
subset: gard_rare {source="GARD:0012734"}
subset: ordo_disease {source="Orphanet:97927"}
xref: GARD:0012734 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="ORDO:97927/attributed", source="ORDO:97927/ntbt", source="Orphanet:97927"}
xref: Orphanet:97927 {source="MONDO:equivalentTo"}
xref: SCTID:718193005 {source="MONDO:equivalentTo"}
xref: UMLS:C4273673 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
xref: UMLS:CN206931 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
is_a: MONDO:0016412 {source="Orphanet:97927"} ! peripheral hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/718193005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4273673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206931
property_value: exactMatch Orphanet:97927
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones xsd:anyURI {source="GARD:0012734"}

[Term]
id: MONDO:0019996
name: obsolete rare cardiac disease
def: "Rare heart disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97929"}
synonym: "rare heart disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:97929 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206932 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206932
property_value: exactMatch Orphanet:97929
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005267

[Term]
id: MONDO:0019997
name: obsolete rare gastroenterologic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97935"}
xref: Orphanet:97935 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206933 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206933
property_value: exactMatch Orphanet:97935
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0019998
name: gastroduodenal malformation
subset: ordo_group_of_disorders {source="Orphanet:97944"}
xref: Orphanet:97944 {source="MONDO:equivalentTo"}
is_a: MONDO:0020019 {source="Orphanet:97944"} ! digestive tract malformation
property_value: exactMatch Orphanet:97944

[Term]
id: MONDO:0019999
name: intestinal malformation
subset: ordo_group_of_disorders {source="Orphanet:97945"}
xref: Orphanet:97945 {source="MONDO:equivalentTo"}
is_a: MONDO:0020019 {source="Orphanet:97945"} ! digestive tract malformation
property_value: exactMatch Orphanet:97945

[Term]
id: MONDO:0020000
name: obsolete rare respiratory disease
def: "Rare respiratory system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97955"}
synonym: "rare respiratory system disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:97955 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206934 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206934
property_value: exactMatch Orphanet:97955
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005087

[Term]
id: MONDO:0020001
name: respiratory or thoracic malformation
subset: ordo_group_of_disorders {source="Orphanet:97957"}
xref: Orphanet:97957 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:97957"} ! respiratory system disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020000"} ! rare
property_value: exactMatch Orphanet:97957

[Term]
id: MONDO:0020002
name: obsolete rare surgical thoracic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97962"}
xref: Orphanet:97962 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206935 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206935
property_value: exactMatch Orphanet:97962
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0020003
name: obsolete rare surgical cardiac disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97965"}
xref: Orphanet:97965 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206936 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206936
property_value: exactMatch Orphanet:97965
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0020004
name: obsolete rare eye disease
def: "Rare eye disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97966"}
synonym: "rare eye disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:97966 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206937 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206937
property_value: exactMatch Orphanet:97966
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005328

[Term]
id: MONDO:0020005
name: obsolete rare endocrine disease
def: "Rare endocrine system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:97978"}
synonym: "rare endocrine system disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:97978 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206938 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206938
property_value: exactMatch Orphanet:97978
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005151

[Term]
id: MONDO:0020006
name: obsolete rare hematologic disease
is_obsolete: true
replaced_by: MONDO:0005570

[Term]
id: MONDO:0020007
name: absence of the pulmonary artery
def: "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM, see this term). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." [Orphanet:980]
subset: ordo_morphological_anomaly {source="Orphanet:980"}
xref: ICD10:Q25.7 {source="ORDO:980/ntbt", source="Orphanet:980"}
xref: Orphanet:980 {source="MONDO:equivalentTo"}
xref: UMLS:CN206941 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020287 {source="Orphanet:980"} ! pulmonary artery or pulmonary branch anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206941
property_value: exactMatch Orphanet:980

[Term]
id: MONDO:0020008
name: obsolete rare immune disease
def: "Rare immune system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98004"}
synonym: "rare immune system disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98004 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206942 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206942
property_value: exactMatch Orphanet:98004
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005046

[Term]
id: MONDO:0020009
name: obsolete rare neurologic disease
def: "Rare nervous system disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98006"}
synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare, Orphanet:98006]
synonym: "rare nervous system disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:98006 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206943 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206943
property_value: exactMatch Orphanet:98006
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005071

[Term]
id: MONDO:0020010
name: infectious disease of the nervous system
def: "A infectious disease that involves the nervous system." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98010"}
synonym: "nervous system infectious disease" EXACT [MONDO:patterns/location]
synonym: "nervous system infectious disorder" EXACT [NCIT:C27590]
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27590 {source="MONDO:equivalentTo"}
xref: Orphanet:98010 {source="MONDO:equivalentTo"}
xref: SCTID:128116006 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
xref: UMLS:C0597039 {source="MONDO:equivalentTo", source="ORDO:98010/e", source="NCIT:C27590", source="Orphanet:98010"}
is_a: MONDO:0005071 {source="Orphanet:98010"} ! nervous system disorder
is_a: MONDO:0005550 ! infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/128116006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0597039
property_value: exactMatch NCIT:C27590
property_value: exactMatch Orphanet:98010

[Term]
id: MONDO:0020011
name: obsolete rare headache disorder
def: "Rare headache disorder." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98022"}
synonym: "rare headache" EXACT [Orphanet:98022]
synonym: "rare headache disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:98022 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98022
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021146
consider: UMLS:C0393735 {source="Orphanet:98022"}

[Term]
id: MONDO:0020012
name: systemic or rheumatic disease
comment: Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs
subset: ordo_group_of_disorders {source="Orphanet:98023"}
synonym: "rare systemic or rheumatologic disease" RELATED [Orphanet:98023]
xref: Orphanet:98023 {source="MONDO:equivalentTo"}
xref: UMLS:CN206945 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206945
property_value: exactMatch Orphanet:98023

[Term]
id: MONDO:0020013
name: rare odontologic disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98026"}
xref: Orphanet:98026 {source="MONDO:equivalentTo"}
xref: UMLS:CN206946 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disease
relationship: has_modifier MONDO:0021136 ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206946
property_value: exactMatch Orphanet:98026
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020014
name: rare disease with odontological manifestation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98027"}
xref: Orphanet:98027 {source="MONDO:equivalentTo"}
xref: UMLS:CN206947 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020013 {source="Orphanet:98027"} ! rare odontologic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206947
property_value: exactMatch Orphanet:98027
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020015
name: obsolete rare circulatory system disease
def: "A rare form of cardiovascular disease." [MONDO:DesignPattern]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98028"}
synonym: "rare cardiovascular disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98028 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206948 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206948
property_value: exactMatch Orphanet:98028
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004995

[Term]
id: MONDO:0020016
name: rare neurologic disease with psychiatric involvement
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98033"}
xref: Orphanet:98033 {source="MONDO:equivalentTo"}
xref: UMLS:CN206949 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MONDOLEX:0020016", source="Orphanet:98033"} ! nervous system disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206949
property_value: exactMatch Orphanet:98033
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020017
name: obsolete rare otorhinolaryngologic disease
def: "Any of the forms of otorhinolaryngologic disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98036"}
synonym: "rare head and neck disease" RELATED []
synonym: "rare otorhinolaryngologic disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98036 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206950 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206950
property_value: exactMatch Orphanet:98036
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024623

[Term]
id: MONDO:0020018
name: cranial malformation
subset: ordo_group_of_disorders {source="Orphanet:98038"}
xref: Orphanet:98038 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:98038"} ! developmental defect during embryogenesis
property_value: exactMatch Orphanet:98038

[Term]
id: MONDO:0020019
name: digestive tract malformation
subset: ordo_group_of_disorders {source="Orphanet:98039"}
xref: Orphanet:98039 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:98039"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch Orphanet:98039

[Term]
id: MONDO:0020020
name: visceral malformation of the liver, biliary tract, pancreas or spleen
subset: ordo_group_of_disorders {source="Orphanet:98041"}
xref: Orphanet:98041 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:98041"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch Orphanet:98041

[Term]
id: MONDO:0020021
name: diaphragmatic or abdominal wall malformation
subset: ordo_group_of_disorders {source="Orphanet:98043"}
xref: Orphanet:98043 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:98043"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: exactMatch Orphanet:98043

[Term]
id: MONDO:0020022
name: central nervous system malformation
subset: ordo_group_of_disorders {source="Orphanet:98044"}
xref: MESH:D009421 {source="MONDO:subClassOf", source="MONDO:equivalentTo"}
xref: Orphanet:98044 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019755 {source="Orphanet:98044"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D009421
property_value: exactMatch Orphanet:98044

[Term]
id: MONDO:0020023
name: respiratory or mediastinal malformation
subset: ordo_group_of_disorders {source="Orphanet:98045"}
xref: Orphanet:98045 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:98045"} ! developmental defect during embryogenesis
property_value: exactMatch Orphanet:98045

[Term]
id: MONDO:0020024
name: obsolete rare infertility
def: "Rare infertility." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98047"}
synonym: "rare infertility" EXACT [MONDO:patterns/rare]
synonym: "rare infertility disorder" EXACT [MONDO:patterns/rare]
xref: Orphanet:98047 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227735 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227735
property_value: exactMatch Orphanet:98047
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005047

[Term]
id: MONDO:0020025
name: obsolete rare male infertility
def: "Rare male infertility." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98048"}
synonym: "rare male infertility" EXACT [MONDO:patterns/rare]
xref: Orphanet:98048 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98048
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005372
consider: UMLS:C0021364 {source="MONDO:subClassOf", source="Orphanet:98048"}

[Term]
id: MONDO:0020026
name: obsolete rare female infertility
def: "Rare female infertility." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98049"}
synonym: "rare female infertility" EXACT [MONDO:patterns/rare]
xref: Orphanet:98049 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227737 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227737
property_value: exactMatch Orphanet:98049
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021124

[Term]
id: MONDO:0020027
name: obsolete rare allergic disease
def: "Rare allergic hypersensitivity disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98050"}
synonym: "rare allergic disease" EXACT [MONDO:patterns/rare]
synonym: "rare allergic hypersensitivity disease" EXACT []
synonym: "rare allergy" EXACT [Orphanet:98050]
xref: Orphanet:98050 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206951 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="MEDGEN:kboom-pr87-c94"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206951
property_value: exactMatch Orphanet:98050
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005271

[Term]
id: MONDO:0020028
name: obsolete rare allergic respiratory disease
def: "Rare respiratory allergy." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98052"}
synonym: "rare allergic respiratory disease" EXACT [MONDO:patterns/rare]
synonym: "rare respiratory allergy" EXACT [Orphanet:98052]
xref: Orphanet:98052 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1504369 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98052"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1504369
property_value: exactMatch Orphanet:98052
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000771

[Term]
id: MONDO:0020029
name: obsolete rare genetic cardiac disease
def: "Rare genetic heart disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98054"}
synonym: "rare genetic heart disease" EXACT []
xref: Orphanet:98054 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206954 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206954
property_value: exactMatch Orphanet:98054
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005267

[Term]
id: MONDO:0020030
name: obsolete rare genetic renal disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98056"}
xref: Orphanet:98056 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206955 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206955
property_value: exactMatch Orphanet:98056
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005240

[Term]
id: MONDO:0020031
name: obsolete rare tumor
def: "Rare disease of cellular proliferation." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98057"}
synonym: "rare disease of cellular proliferation" EXACT []
synonym: "rare neoplasm" EXACT [Orphanet:98057]
synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:98057 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98057
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070
consider: UMLS:C0375111 {source="Orphanet:98057"}

[Term]
id: MONDO:0020032
name: obsolete rare urinary tract tumor
def: "Rare urinary system benign neoplasm." []
comment: Editor note: ORDO considers this benign but there are rare urinary tract tumors that are non-benign
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98058"}
synonym: "rare urinary system neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare urinary tract cancer" EXACT [Orphanet:98058]
synonym: "rare urinary tract neoplasm" EXACT [Orphanet:98058]
xref: Orphanet:98058 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206957 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206957
property_value: exactMatch Orphanet:98058
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021066
consider: UMLS:C0042076 {source="Orphanet:98058"}
consider: UMLS:C0751571 {source="Orphanet:98058"}

[Term]
id: MONDO:0020033
name: obsolete rare digestive tumor
def: "Any of the forms of digestive system neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98059"}
synonym: "rare digestive cancer" EXACT [Orphanet:98059]
synonym: "rare digestive neoplasm" EXACT [Orphanet:98059]
synonym: "rare digestive system neoplasm" EXACT [MONDO:patterns/rare]
xref: Orphanet:98059 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206958 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206958
property_value: exactMatch Orphanet:98059
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021223
consider: UMLS:C0012243 {source="Orphanet:98059"}
consider: UMLS:C0017185 {source="Orphanet:98059"}
consider: UMLS:C0685938 {source="Orphanet:98059"}

[Term]
id: MONDO:0020034
name: obsolete rare respiratory tract neoplasm
def: "Any of the forms of respiratory tract neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98060"}
synonym: "rare respiratory cancer" NARROW [Orphanet:98060]
synonym: "rare respiratory neoplasm" EXACT [Orphanet:98060]
synonym: "rare respiratory tract neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare respiratory tumor" EXACT [Orphanet:98060]
xref: Orphanet:98060 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206959 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206959
property_value: exactMatch Orphanet:98060
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020641
consider: UMLS:C0035244 {source="Orphanet:98060"}
consider: UMLS:C0154131 {source="Orphanet:98060"}

[Term]
id: MONDO:0020035
name: rare otorhinolaryngologic tumor
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98061"}
synonym: "rare ORL cancer" EXACT [Orphanet:98061]
synonym: "rare ORL neoplasm" EXACT [Orphanet:98061]
synonym: "rare ORL tumor" EXACT [Orphanet:98061]
xref: Orphanet:98061 {source="MONDO:equivalentTo"}
xref: UMLS:CN206960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="Orphanet:98061"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="Orphanet:98061"} ! otorhinolaryngologic disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0017371", source="MONDO:0020017"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206960
property_value: exactMatch Orphanet:98061
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020036
name: obsolete rare nervous system tumor
def: "Rare nervous system cancer." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98062"}
synonym: "nervous system rare tumor" EXACT [MONDO:patterns/location]
synonym: "rare nervous system cancer" EXACT []
synonym: "rare nervous system neoplasm" EXACT [Orphanet:98062]
xref: Orphanet:98062 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98062
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021248
consider: UMLS:C0027766 {source="Orphanet:98062"}

[Term]
id: MONDO:0020037
name: obsolete rare gynecological tumor
def: "Rare female reproductive system neoplasm." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98063"}
synonym: "rare female reproductive system neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare gynaecological cancer" EXACT [Orphanet:98063]
synonym: "rare gynaecological neoplasm" EXACT [Orphanet:98063]
xref: Orphanet:98063 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206962 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206962
property_value: exactMatch Orphanet:98063
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021148
consider: UMLS:C0017416 {source="Orphanet:98063"}
consider: UMLS:C0699889 {source="Orphanet:98063"}

[Term]
id: MONDO:0020038
name: gonadal dysgenesis of gynecological interest
subset: ordo_group_of_disorders {source="Orphanet:98074"}
xref: Orphanet:98074 {source="MONDO:equivalentTo"}
is_a: MONDO:0017976 {source="Orphanet:98074"} ! disorder of sex development of gynecological interest
property_value: exactMatch Orphanet:98074

[Term]
id: MONDO:0020039
name: 46,XX disorder of sex development induced by androgens excess
subset: ordo_group_of_disorders {source="Orphanet:98078"}
synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078]
xref: Orphanet:98078 {source="MONDO:equivalentTo"}
xref: UMLS:CN227738 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017576 {source="MONDOLEX:0020039", source="Orphanet:98078"} ! 46,XX disorder of sex development
is_a: MONDO:0017976 {source="Orphanet:98078"} ! disorder of sex development of gynecological interest
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227738
property_value: exactMatch Orphanet:98078

[Term]
id: MONDO:0020040
name: 46,XY disorder of sex development
def: "Differences of sex development in individuals with 46,XY karyotype." [NCIT:C127171]
subset: ordo_group_of_disorders {source="Orphanet:98085"}
synonym: "46, XY disorders of sexual development" RELATED [GARD:0008538]
synonym: "46, XY DSD" RELATED [GARD:0008538]
synonym: "46, XY female" RELATED [GARD:0008538]
synonym: "46,XY differences of Sex development" EXACT [NCIT:C127171]
synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171]
synonym: "46,XY DSD" EXACT [Orphanet:98085]
synonym: "XY female" RELATED [GARD:0008538]
xref: GARD:0008538 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:D058490 {source="MONDO:equivalentTo", source="ORDO:98085/e", source="MONDO:ontobio", source="Orphanet:98085"}
xref: NCIT:C127171 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: Orphanet:98085 {source="MONDO:equivalentTo"}
xref: SCTID:8234004 {source="MONDO:equivalentTo"}
xref: UMLS:C2751824 {source="MONDO:equivalentTo", source="ORDO:98085/e", source="Orphanet:98085", source="NCIT:C127171"}
is_a: MONDO:0002145 {source="MESH:D058490", source="NCIT:C127171", source="Orphanet:98085"} ! sex differentiation disease
property_value: exactMatch http://identifiers.org/mesh/D058490
property_value: exactMatch http://identifiers.org/snomedct/8234004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751824
property_value: exactMatch NCIT:C127171
property_value: exactMatch Orphanet:98085

[Term]
id: MONDO:0020041
name: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
subset: ordo_group_of_disorders {source="Orphanet:98086"}
xref: Orphanet:98086 {source="MONDO:equivalentTo"}
xref: UMLS:CN227739 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017970 {source="Orphanet:98086"} ! 46,XY disorder of sex development due to impaired androgen production
is_a: MONDO:0017977 {source="Orphanet:98086"} ! 46,XY disorder of sex development of gynecological interest
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227739
property_value: exactMatch Orphanet:98086

[Term]
id: MONDO:0020042
name: syndrome with 46,XY disorder of sex development
subset: ordo_group_of_disorders {source="Orphanet:98087"}
synonym: "syndrome with 46,XY DSD" EXACT [Orphanet:98087]
xref: Orphanet:98087 {source="MONDO:equivalentTo"}
xref: UMLS:CN206965 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020040 {source="MONDOLEX:0020042", source="Orphanet:98087"} ! 46,XY disorder of sex development
relationship: has_modifier MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206965
property_value: exactMatch Orphanet:98087

[Term]
id: MONDO:0020043
name: autosomal recessive congenital cerebellar ataxia
subset: ordo_group_of_disorders {source="Orphanet:98095"}
xref: Orphanet:98095 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:98095"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch Orphanet:98095

[Term]
id: MONDO:0020044
name: autosomal recessive metabolic cerebellar ataxia
subset: ordo_group_of_disorders {source="Orphanet:98096"}
xref: Orphanet:98096 {source="MONDO:equivalentTo"}
xref: UMLS:CN229258 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:98096"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229258
property_value: exactMatch Orphanet:98096

[Term]
id: MONDO:0020045
name: autosomal recessive cerebellar ataxia due to a DNA repair defect
subset: ordo_group_of_disorders {source="Orphanet:98097"}
xref: ICD10:G11.3 {source="ORDO:98097/e", source="Orphanet:98097", source="ORDO:98097/specific"}
xref: Orphanet:98097 {source="MONDO:equivalentTo"}
xref: UMLS:CN227741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="MONDO:Redundant", source="Orphanet:98097"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0020142 ! metabolic disease with dementia
is_a: MONDO:0021190 ! DNA repair disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227741
property_value: exactMatch Orphanet:98097

[Term]
id: MONDO:0020046
name: autosomal recessive degenerative and progressive cerebellar ataxia
subset: ordo_group_of_disorders {source="Orphanet:98098"}
xref: Orphanet:98098 {source="MONDO:equivalentTo"}
xref: UMLS:CN229259 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:98098"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229259
property_value: exactMatch Orphanet:98098

[Term]
id: MONDO:0020047
name: autosomal recessive syndromic cerebellar ataxia
subset: ordo_group_of_disorders {source="Orphanet:98099"}
xref: Orphanet:98099 {source="MONDO:equivalentTo"}
xref: UMLS:CN227742 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="Orphanet:98099"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227742
property_value: exactMatch Orphanet:98099

[Term]
id: MONDO:0020048
name: internal carotid agenesis
def: "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." [Orphanet:981]
subset: gard_rare {source="GARD:0003012"}
subset: ordo_morphological_anomaly {source="Orphanet:981"}
synonym: "agenesis of the internal carotid artery" RELATED [GARD:0003012]
synonym: "internal carotid artery agenesis" RELATED [GARD:0003012]
xref: GARD:0003012 {source="MONDO:equivalentTo"}
xref: ICD10:Q28.1 {source="ORDO:981/ntbt", source="Orphanet:981"}
xref: Orphanet:981 {source="MONDO:equivalentTo"}
xref: SCTID:722004001 {source="MONDO:kboom-pr-1.00/0.79/7.55", source="MONDO:equivalentTo"}
is_a: MONDO:0015145 {source="Orphanet:981"} ! neurovascular malformation
is_a: MONDO:0018723 {source="Orphanet:981"} ! rare vascular malformation of major vessels
property_value: exactMatch http://identifiers.org/snomedct/722004001
property_value: exactMatch Orphanet:981
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis xsd:anyURI {source="GARD:0003012"}

[Term]
id: MONDO:0020049
name: autosomal anomaly
def: "A chromosomal anomaly that involves an autosome." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98127"}
synonym: "autosome chromosomal anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "chromosomal anomaly of autosome" EXACT [MONDO:design_pattern]
xref: Orphanet:98127 {source="MONDO:equivalentTo"}
xref: UMLS:CN227743 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:98127"} ! chromosomal anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227743
property_value: exactMatch Orphanet:98127

[Term]
id: MONDO:0020050
name: autosomal trisomy
def: "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." [NCIT:C3421]
subset: ordo_group_of_disorders {source="Orphanet:98130"}
synonym: "autosomal duplication" EXACT [Orphanet:98130]
synonym: "chromosomal triplication" RELATED [GARD:0006065]
synonym: "trisomy" EXACT [NCIT:C3421]
xref: GARD:0006065 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3421 {source="MONDO:equivalentTo"}
xref: Orphanet:98130 {source="MONDO:equivalentTo"}
xref: SCTID:429442006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.81"}
xref: UMLS:C1996945 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0020049 {source="Orphanet:98130"} ! autosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041107
property_value: exactMatch http://identifiers.org/snomedct/429442006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1996945
property_value: exactMatch NCIT:C3421
property_value: exactMatch Orphanet:98130

[Term]
id: MONDO:0020051
name: total autosomal trisomy
subset: ordo_group_of_disorders {source="Orphanet:98131"}
xref: Orphanet:98131 {source="MONDO:equivalentTo"}
is_a: MONDO:0020050 {source="Orphanet:98131"} ! autosomal trisomy
property_value: exactMatch Orphanet:98131

[Term]
id: MONDO:0020052
name: partial autosomal trisomy/tetrasomy
subset: ordo_group_of_disorders {source="Orphanet:98132"}
xref: Orphanet:98132 {source="MONDO:equivalentTo"}
is_a: MONDO:0020050 {source="Orphanet:98132"} ! autosomal trisomy
property_value: exactMatch Orphanet:98132

[Term]
id: MONDO:0020053
name: total autosomal monosomy
subset: ordo_group_of_disorders {source="Orphanet:98141"}
xref: ICD10:Q93.0 {source="ORDO:98141/btnt", source="Orphanet:98141", source="ORDO:98141/specific"}
xref: ICD10:Q93.1 {source="ORDO:98141/btnt", source="Orphanet:98141", source="ORDO:98141/specific"}
xref: Orphanet:98141 {source="MONDO:equivalentTo"}
is_a: MONDO:0015153 {source="Orphanet:98141"} ! autosomal monosomy
property_value: exactMatch Orphanet:98141

[Term]
id: MONDO:0020054
name: partial autosomal monosomy
subset: ordo_group_of_disorders {source="Orphanet:98142"}
synonym: "partial autosomal deletion" EXACT [Orphanet:98142]
xref: ICD10:Q93.3 {source="MONDO:relatedTo", source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"}
xref: ICD10:Q93.4 {source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"}
xref: ICD10:Q93.5 {source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"}
xref: Orphanet:98142 {source="MONDO:equivalentTo"}
is_a: MONDO:0015153 {source="Orphanet:98142"} ! autosomal monosomy
property_value: exactMatch Orphanet:98142

[Term]
id: MONDO:0020055
name: autosomal uniparental disomy
subset: ordo_group_of_disorders {source="Orphanet:98152"}
xref: ICD10:Q99.8 {source="ORDO:98152/attributed", source="ORDO:98152/ntbt", source="Orphanet:98152"}
xref: Orphanet:98152 {source="MONDO:equivalentTo"}
xref: UMLS:CN229262 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020049 {source="Orphanet:98152"} ! autosomal anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229262
property_value: exactMatch Orphanet:98152

[Term]
id: MONDO:0020056
name: uniparental disomy of maternal origin
subset: ordo_group_of_disorders {source="Orphanet:98153"}
xref: ICD10:Q99.8 {source="ORDO:98153/attributed", source="ORDO:98153/ntbt", source="Orphanet:98153"}
xref: Orphanet:98153 {source="MONDO:equivalentTo"}
xref: SCTID:726401004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020055 {source="Orphanet:98153"} ! autosomal uniparental disomy
property_value: exactMatch http://identifiers.org/snomedct/726401004
property_value: exactMatch Orphanet:98153

[Term]
id: MONDO:0020057
name: uniparental disomy of paternal origin
subset: ordo_group_of_disorders {source="Orphanet:98154"}
xref: ICD10:Q99.8 {source="ORDO:98154/attributed", source="ORDO:98154/ntbt", source="Orphanet:98154"}
xref: Orphanet:98154 {source="MONDO:equivalentTo"}
xref: SCTID:726402006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020055 {source="Orphanet:98154"} ! autosomal uniparental disomy
property_value: exactMatch http://identifiers.org/snomedct/726402006
property_value: exactMatch Orphanet:98154

[Term]
id: MONDO:0020058
name: gonosome anomaly
subset: ordo_group_of_disorders {source="Orphanet:98155"}
synonym: "Sex-chromosome anomaly" EXACT [Orphanet:98155]
xref: COHD:441398 {source="MONDO:equivalentTo"}
xref: ICD9:758.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98155 {source="MONDO:equivalentTo"}
xref: SCTID:95462004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.75"}
is_a: MONDO:0019040 {source="Orphanet:98155", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036868
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0949683
property_value: exactMatch http://identifiers.org/snomedct/95462004
property_value: exactMatch Orphanet:98155

[Term]
id: MONDO:0020059
name: gonosome number anomaly
subset: ordo_group_of_disorders {source="Orphanet:98156"}
synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156]
xref: Orphanet:98156 {source="MONDO:equivalentTo"}
is_a: MONDO:0020058 {source="Orphanet:98156"} ! gonosome anomaly
property_value: exactMatch Orphanet:98156

[Term]
id: MONDO:0020060
name: gonosome structural anomaly
subset: ordo_group_of_disorders {source="Orphanet:98157"}
synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157]
xref: Orphanet:98157 {source="MONDO:equivalentTo"}
is_a: MONDO:0020058 {source="Orphanet:98157"} ! gonosome anomaly
property_value: exactMatch Orphanet:98157

[Term]
id: MONDO:0020061
name: chromosome Y structural anomaly
subset: ordo_group_of_disorders {source="Orphanet:98158"}
xref: ICD10:Q98.6 {source="Orphanet:98158", source="ORDO:98158/attributed", source="ORDO:98158/ntbt"}
xref: Orphanet:98158 {source="MONDO:equivalentTo"}
is_a: MONDO:0020060 {source="Orphanet:98158"} ! gonosome structural anomaly
property_value: exactMatch Orphanet:98158

[Term]
id: MONDO:0020062
name: chromosome X structural anomaly
subset: ordo_group_of_disorders {source="Orphanet:98159"}
xref: ICD10:Q99.8 {source="Orphanet:98159", source="ORDO:98159/attributed", source="ORDO:98159/ntbt"}
xref: Orphanet:98159 {source="MONDO:equivalentTo"}
is_a: MONDO:0020060 {source="Orphanet:98159"} ! gonosome structural anomaly
property_value: exactMatch Orphanet:98159

[Term]
id: MONDO:0020063
name: malformation syndrome with hamartosis
subset: ordo_group_of_disorders {source="Orphanet:98196"}
synonym: "Dysmorphologic diseases with phakomatosis" EXACT [Orphanet:98196]
xref: Orphanet:98196 {source="MONDO:equivalentTo"}
xref: UMLS:CN206967 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019755 {source="Orphanet:98196"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206967
property_value: exactMatch Orphanet:98196

[Term]
id: MONDO:0020064
name: pulmonary valve agenesis
def: "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome; see this term). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" [Orphanet:982]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:982"}
synonym: "absent pulmonary valve syndrome" EXACT [Orphanet:982]
synonym: "congenital absence of the pulmonary valve" EXACT [Orphanet:982]
synonym: "pulmonary valves agenesis" RELATED [GARD:0004597]
synonym: "PVA" EXACT [Orphanet:982]
xref: GARD:0004597 {source="MONDO:equivalentTo"}
xref: ICD10:Q22.2 {source="ORDO:982/ntbt", source="Orphanet:982"}
xref: Orphanet:982 {source="MONDO:equivalentTo"}
xref: SCTID:6996004 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"}
is_a: MONDO:0016581 {source="Orphanet:982"} ! conotruncal heart malformations
is_a: MONDO:0020287 {source="Orphanet:982"} ! pulmonary artery or pulmonary branch anomaly
property_value: exactMatch http://identifiers.org/snomedct/6996004
property_value: exactMatch Orphanet:982

[Term]
id: MONDO:0020065
name: combined dystonia
def: "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
subset: ordo_group_of_disorders {source="Orphanet:98203"}
synonym: "dystonia-plus syndrome" EXACT [Orphanet:98203]
xref: ICD10:G24.1 {source="Orphanet:98203", source="ORDO:98203/attributed", source="ORDO:98203/ntbt"}
xref: Orphanet:98203 {source="MONDO:equivalentTo"}
xref: UMLS:CN206969 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0044807 {source="Orphanet:98203"} ! inherited dystonia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206969
property_value: exactMatch Orphanet:98203

[Term]
id: MONDO:0020066
name: Ehlers-Danlos syndrome
def: "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." [PMID:28306229]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:98249"}
synonym: "Danlos disease" EXACT [SCTID:398114001]
synonym: "Danlos Disease, Ehlers" EXACT [MESH:D004535]
synonym: "danlos ehlers syndrome" EXACT [UMLS:C0013720]
synonym: "Disease, Ehlers Danlos" EXACT [MESH:D004535]
synonym: "Disease, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Dystrophia mesodermalis congenita" EXACT [SCTID:398114001]
synonym: "ED syndrome" RELATED [GARD:0006322, MedGen:41720]
synonym: "EDS" EXACT [GARD:0006322, ICD11:LD08.1, MedGen:41720, PMID:28306229, UMLS:C0013720]
synonym: "Ehler Danlos Syndrome" EXACT [UMLS:C0013720]
synonym: "Ehlers Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Ehlers Danlos syndrome" EXACT [GARD:0006322, MESH:D004535, UMLS:C0013720]
synonym: "Ehlers-Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Ehlers-Danlos syndromes" EXACT [GARD:0006322, NCIT:C34568, SCTID:398114001, UMLS:C0013720]
synonym: "elastic skin" EXACT [CSP2005:1849-3115, DOID:13359, UMLS:C0013720]
synonym: "Fibrodysplasia elastica generalisata" EXACT [SCTID:398114001]
synonym: "Hereditary collagen dysplasia" EXACT [SCTID:398114001]
synonym: "Meekeren-Ehlers-Danlos syndrome" EXACT [SCTID:398114001]
synonym: "skin elastic" EXACT [UMLS:C0013720]
synonym: "Syndrome, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720]
xref: COHD:79145 {source="MONDO:equivalentTo"}
xref: DOID:13359 {source="MONDO:equivalentTo"}
xref: GARD:0006322 {source="MONDO:equivalentTo"}
xref: ICD10:Q79.6 {source="ORDO:98249/e", source="DOID:13359", source="ORDO:98249/specific", source="Orphanet:98249", source="MONDO:equivalentTo"}
xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10014316 {source="ORDO:98249/e", source="Orphanet:98249"}
xref: MESH:D004535 {source="ORDO:98249/e", source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo"}
xref: NCIT:C34568 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:130000 {source="MONDO:equivalentTo"}
xref: Orphanet:98249 {source="MONDO:equivalentTo"}
xref: SCTID:398114001 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0013720 {source="ORDO:98249/e", source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="NCIT:C34568"}
is_a: MONDO:0002254 {source="MONDOLEX:0020066", source="NCIT:C34568"} ! syndromic disease
is_a: MONDO:0015331 {source="Orphanet:98249"} ! malformation syndrome with skin/mucosae involvement
is_a: MONDO:0015332 {source="Orphanet:98249"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0015938 {source="Orphanet:98249"} ! systemic disease
is_a: MONDO:0017133 {source="MONDO:Entailed", source="Orphanet:98249"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0019292 {source="Orphanet:98249", source="Orphanet:98249/inferred"} ! dermis elastic tissue disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: closeMatch http://identifiers.org/snomedct/157008000
property_value: closeMatch http://identifiers.org/snomedct/2300005
property_value: closeMatch http://identifiers.org/snomedct/238848002
property_value: closeMatch http://identifiers.org/snomedct/268352002
property_value: exactMatch DOID:13359
property_value: exactMatch http://identifiers.org/meddra/10014316
property_value: exactMatch http://identifiers.org/mesh/D004535
property_value: exactMatch http://identifiers.org/snomedct/398114001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013720
property_value: exactMatch NCIT:C34568
property_value: exactMatch Orphanet:98249
property_value: excluded_synonym "Cutis hyperelastica" xsd:string {xref="DOID:13359", xref="ICD11:LD08.1", xref="SCTID:238848002", xref="SCTID:398114001", xref="UMLS:C0013720"}
property_value: excluded_synonym "India rubber skin" xsd:string {xref="SCTID:398114001"}

[Term]
id: MONDO:0020067
name: infectious encephalitis
def: "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." [NCIT:C79550]
subset: ordo_group_of_disorders {source="Orphanet:98252"}
synonym: "encephalitis infection" EXACT [NCIT:C79550]
xref: ICD9:049.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:323.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D000069544 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C79550 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: SCTID:312215006 {source="MONDO:equivalentTo"}
is_a: MONDO:0019956 {source="MESH:D000069544", source="MONDO:Redundant", source="NCIT:C79550", source="linkedlifedata"} ! encephalitis
is_a: MONDO:0024619 {source="MESH:D000069544", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system infectious disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0019956 ! encephalitis
property_value: exactMatch http://identifiers.org/mesh/D000069544
property_value: exactMatch http://identifiers.org/snomedct/312215006
property_value: exactMatch NCIT:C79550

[Term]
id: MONDO:0020068
name: postinfectious encephalitis
subset: ordo_group_of_disorders {source="Orphanet:98253"}
xref: ICD9:323.6 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10057235 {source="ORDO:98253/e", source="Orphanet:98253"}
xref: Orphanet:98253 {source="MONDO:equivalentTo"}
xref: SCTID:192727001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393459 {source="MONDO:equivalentTo", source="ORDO:98253/e", source="Orphanet:98253"}
is_a: MONDO:0020067 ! infectious encephalitis
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/meddra/10057235
property_value: exactMatch http://identifiers.org/snomedct/192727001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393459
property_value: exactMatch Orphanet:98253

[Term]
id: MONDO:0020069
name: chronic encephalitis
def: "Chronic form of encephalitis." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:98255"}
synonym: "encephalitis, chronic" EXACT [MONDO:patterns/chronic]
xref: Orphanet:98255 {source="MONDO:equivalentTo"}
xref: UMLS:C0006109 {source="MONDO:equivalentTo"}
is_a: MONDO:0020067 ! infectious encephalitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006109
property_value: exactMatch Orphanet:98255

[Term]
id: MONDO:0020070
name: neonatal epilepsy syndrome
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98257"}
xref: ICD10:G40.4 {source="Orphanet:98257", source="ORDO:98257/attributed", source="ORDO:98257/ntbt"}
xref: Orphanet:98257 {source="MONDO:equivalentTo"}
xref: UMLS:CN206974 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98257"} ! epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206974
property_value: exactMatch Orphanet:98257
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0020071
name: infantile epilepsy syndrome
def: "A epilepsy syndrome that occurs between 28 days to one year of life.." [MONDO:design_pattern]
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98258"}
synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: ICD10:G40.4 {source="Orphanet:98258", source="ORDO:98258/attributed", source="ORDO:98258/ntbt"}
xref: Orphanet:98258 {source="MONDO:equivalentTo"}
xref: UMLS:CN206975 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98258"} ! epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206975
property_value: exactMatch Orphanet:98258
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0020072
name: childhood-onset epilepsy syndrome
def: "A epilepsy syndrome that occurs during childhood." [MONDO:design_pattern]
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98259"}
synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern]
synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric epilepsy syndrome" RELATED [MONDO:patterns/childhood]
xref: ICD10:G40.4 {source="Orphanet:98259", source="ORDO:98259/attributed", source="ORDO:98259/ntbt"}
xref: Orphanet:98259 {source="MONDO:equivalentTo"}
xref: UMLS:CN206976 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98259"} ! epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206976
property_value: exactMatch Orphanet:98259
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0020073
name: adolescent-onset epilepsy syndrome
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98260"}
xref: ICD10:G40.4 {source="ORDO:98260/attributed", source="ORDO:98260/ntbt", source="Orphanet:98260"}
xref: Orphanet:98260 {source="MONDO:equivalentTo"}
xref: UMLS:CN206977 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015650 {source="Orphanet:98260"} ! epilepsy syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206977
property_value: exactMatch Orphanet:98260
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0020074
name: progressive myoclonic epilepsy
def: "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." [NCIT:C7636]
subset: ordo_group_of_disorders {source="Orphanet:98261"}
synonym: "epilepsy, progressive myoclonic" EXACT [OMIMPS:254800]
synonym: "familial progressive myoclonic epilepsy" RELATED [GARD:0007140]
synonym: "PME" EXACT [DOID:891, Orphanet:98261]
synonym: "progressive myoclonic epilepsy" EXACT [DOID:891, MTHICD9_2006:333.2]
synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891]
synonym: "progressive myoclonus epilepsy" EXACT [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261]
xref: DOID:891 {source="MONDO:equivalentTo"}
xref: GARD:0007140 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:D020191 {source="MONDO:equivalentTo", source="ORDO:98261/e", source="DOID:891", source="Orphanet:98261"}
xref: NCIT:C7636 {source="MONDO:equivalentTo", source="DOID:891", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: OMIMPS:254800 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:98261 {source="MONDO:equivalentTo"}
xref: SCTID:267581004 {source="MONDO:kboom-pr-0.81/0.62/0.09", source="MONDO:equivalentTo", source="DOID:891"}
xref: UMLS:C0751778 {source="MONDO:equivalentTo", source="ORDO:98261/e", source="DOID:891", source="NCIT:C7636", source="Orphanet:98261"}
is_a: MONDO:0020072 {source="Orphanet:98261"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020073 {source="Orphanet:98261"} ! adolescent-onset epilepsy syndrome
is_a: MONDO:0100036 {source="DOID:891"} ! variable age onset epilepsy
property_value: closeMatch http://identifiers.org/snomedct/192844008
property_value: closeMatch http://identifiers.org/snomedct/89480000
property_value: exactMatch DOID:891
property_value: exactMatch http://identifiers.org/mesh/D020191
property_value: exactMatch http://identifiers.org/snomedct/267581004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751778
property_value: exactMatch NCIT:C7636
property_value: exactMatch Orphanet:98261

[Term]
id: MONDO:0020075
name: genetic non-syndromic obesity
subset: ordo_group_of_disorders {source="Orphanet:98267"}
synonym: "genetic isolated obesity" EXACT []
synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267]
synonym: "monogenic isolated obesity" EXACT []
synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267]
xref: Orphanet:98267 {source="MONDO:equivalentTo"}
is_a: MONDO:0019182 {source="Orphanet:98267"} ! monogenic obesity
intersection_of: MONDO:0019182 ! monogenic obesity
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:98267

[Term]
id: MONDO:0020076
name: myeloproliferative neoplasm
def: "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" [NCIT:C4345]
subset: ordo_group_of_disorders {source="Orphanet:98274"}
synonym: "chronic myeloproliferative disease" EXACT [DOID:2226, NCIT:C4345]
synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345]
synonym: "chronic myeloproliferative disorders" RELATED [GARD:0009319]
synonym: "chronic myeloproliferative neoplasm" EXACT [NCIT:C4345]
synonym: "CMPD" EXACT [DOID:2226, NCIT:C4345]
synonym: "CMPD, U" EXACT [DOID:2226, NCIT:C27350]
synonym: "MPD" EXACT [NCIT:C4345, Orphanet:98274]
synonym: "MPN" EXACT [NCIT:C4345, ONCOTREE:MPN, Orphanet:98274]
synonym: "myeloproliferative disorder" EXACT [NCIT:C4345, Orphanet:98274]
synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345]
synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic]
synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN]
synonym: "myeloproliferative tumor" EXACT [NCIT:C4345]
xref: DOID:2226 {source="MONDO:equivalentTo"}
xref: EFO:0002428 {source="MONDO:equivalentTo"}
xref: EFO:0004251 {source="DOID:4960", source="MONDO:equivalentTo"}
xref: GARD:0009319 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D47.1 {source="DOID:2226"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9960/3 {source="NCIT:C4345"}
xref: ICDO:9975/1 {source="NCIT:C4345"}
xref: MedDRA:10028576 {source="ORDO:98274/e", source="Orphanet:98274"}
xref: NCIT:C4345 {source="DOID:2226", source="MONDO:equivalentTo", source="EFO:0004251"}
xref: ONCOTREE:MPN {source="MONDO:equivalentTo"}
xref: Orphanet:98274 {source="MONDO:equivalentTo"}
xref: SCTID:425333006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.42"}
xref: UMLS:C1292778 {source="DOID:2226", source="MONDO:equivalentTo", source="ORDO:98274/e", source="NCIT:C4345", source="Orphanet:98274"}
is_a: MONDO:0005170 {source="DOID:2226", source="EFO:0002428", source="MONDO:Redundant", source="NCIT:C4345", source="ONCOTREE:MPN/inferred"} ! myeloid neoplasm
is_a: MONDO:0015756 {source="Orphanet:98274"} ! myeloid hemopathy
is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C4345"} ! bone marrow cancer
property_value: closeMatch http://identifiers.org/snomedct/109993000
property_value: closeMatch http://identifiers.org/snomedct/115248004
property_value: closeMatch http://identifiers.org/snomedct/128842008
property_value: closeMatch http://identifiers.org/snomedct/20921005
property_value: exactMatch DOID:2226
property_value: exactMatch http://identifiers.org/meddra/10028576
property_value: exactMatch http://identifiers.org/mesh/D009196
property_value: exactMatch http://identifiers.org/snomedct/425333006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292778
property_value: exactMatch NCIT:C103126
property_value: exactMatch NCIT:C4345
property_value: exactMatch Orphanet:98274

[Term]
id: MONDO:0020077
name: myelodysplastic/myeloproliferative disease
def: "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." [MESH:D054437]
subset: ordo_group_of_disorders {source="Orphanet:98275"}
xref: GARD:0009351 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:D054437 {source="MONDO:equivalentTo", source="ORDO:98275/e", source="Orphanet:98275"}
xref: Orphanet:98275 {source="MONDO:equivalentTo"}
is_a: MONDO:0015756 {source="Orphanet:98275"} ! myeloid hemopathy
property_value: exactMatch http://identifiers.org/mesh/D054437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301355
property_value: exactMatch Orphanet:98275

[Term]
id: MONDO:0020078
name: acute myeloid leukemia with recurrent genetic anomaly
def: "A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" [NCIT:C7175]
subset: gard_rare {source="GARD:0012758"}
subset: ordo_group_of_disorders {source="Orphanet:98277"}
synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT [NCIT:C7175]
synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [NCIT:C7175]
synonym: "AML with recurrent Genetic abnormalities" EXACT [NCIT:C7175]
synonym: "AML with recurrent genetic anomaly" EXACT [Orphanet:98277]
xref: GARD:0012758 {source="MONDO:equivalentTo"}
xref: NCIT:C7175 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AMLRGA {source="MONDO:equivalentTo"}
xref: Orphanet:98277 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="MONDOLEX:0020078", source="NCIT:C7175", source="Orphanet:98277"} ! acute myeloid leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275661
property_value: exactMatch NCIT:C7175
property_value: exactMatch Orphanet:98277
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly xsd:anyURI {source="GARD:0012758"}

[Term]
id: MONDO:0020079
name: obsolete plasma cell tumor
is_obsolete: true
replaced_by: MONDO:0004959

[Term]
id: MONDO:0020080
name: obsolete histiocytic and dendritic cell tumor
is_obsolete: true
replaced_by: MONDO:0006247

[Term]
id: MONDO:0020081
name: macrophage or histiocytic tumor
subset: ordo_group_of_disorders {source="Orphanet:98288"}
xref: Orphanet:98288 {source="MONDO:equivalentTo"}
xref: UMLS:CN206983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006247 {source="Orphanet:98288"} ! histiocytic and dendritic cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206983
property_value: exactMatch Orphanet:98288

[Term]
id: MONDO:0020082
name: dendritic cell tumor
def: "A dendritic cell tumor develops from the cells of the immune system . This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body ( metastasize ). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy , and/or chemotherapy ." [https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor]
subset: gard_rare {source="GARD:0008317"}
subset: ordo_group_of_disorders {source="Orphanet:98289"}
synonym: "Dendritic cell neoplasm" RELATED [GARD:0008317]
synonym: "Dendritic cell sarcoma, NOS" NARROW [NCIT:C27260]
synonym: "Dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260]
synonym: "Dendritic cell tumor, NOS" NARROW [NCIT:C27260]
synonym: "Dendritic cell tumor, Not otherwise specified" NARROW [NCIT:C27260]
xref: GARD:0008317 {source="MONDO:equivalentTo"}
xref: ICD10:C96.4 {source="Orphanet:98289", source="ORDO:98289/e"}
xref: Orphanet:98289 {source="MONDO:equivalentTo"}
xref: SCTID:737223000 {source="MONDO:equivalentTo"}
xref: UMLS:CN206984 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006247 {source="NCIT:C27260", source="Orphanet:98289"} ! histiocytic and dendritic cell neoplasm
property_value: exactMatch http://identifiers.org/snomedct/737223000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206984
property_value: exactMatch Orphanet:98289
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor xsd:anyURI {source="GARD:0008317"}

[Term]
id: MONDO:0020083
name: immunodeficiency-associated lymphoproliferative disease
subset: ordo_group_of_disorders {source="Orphanet:98290"}
xref: ICD10:D47.9 {source="Orphanet:98290", source="ORDO:98290/ntbt"}
xref: Orphanet:98290 {source="MONDO:equivalentTo"}
xref: UMLS:CN206985 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206985
property_value: exactMatch Orphanet:98290

[Term]
id: MONDO:0020084
name: lymphoproliferative disease associated with primary immune disease
subset: ordo_group_of_disorders {source="Orphanet:98291"}
xref: ICD10:D47.9 {source="ORDO:98291/ntbt", source="Orphanet:98291"}
xref: Orphanet:98291 {source="MONDO:equivalentTo"}
xref: UMLS:CN206986 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020083 {source="Orphanet:98291"} ! immunodeficiency-associated lymphoproliferative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206986
property_value: exactMatch Orphanet:98291

[Term]
id: MONDO:0020085
name: obsolete mastocytosis
is_obsolete: true
replaced_by: MONDO:0007950

[Term]
id: MONDO:0020086
name: obsolete idiopathic interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0002429

[Term]
id: MONDO:0020087
name: genetic lipodystrophy
def: "Genetic lipodystrophy." []
subset: ordo_group_of_disorders {source="Orphanet:98305"}
synonym: "genetic lipodystrophy" EXACT []
synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic]
xref: ICD10:E88.1 {source="Orphanet:98305", source="ORDO:98305/attributed", source="ORDO:98305/ntbt"}
xref: Orphanet:98305 {source="MONDO:equivalentTo"}
xref: SCTID:724841000 {source="MONDO:equivalentTo"}
xref: UMLS:C4511302 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006573 {source="MONDO:Redundant", source="Orphanet:98305"} ! lipodystrophy (disease)
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0019599 {source="Orphanet:98305"} ! primary lipodystrophy
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0006573 ! lipodystrophy (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/724841000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511302
property_value: exactMatch Orphanet:98305

[Term]
id: MONDO:0020088
name: familial partial lipodystrophy
def: "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." [Orphanet:98306]
subset: ordo_group_of_disorders {source="Orphanet:98306"}
synonym: "congenital partial lipodystrophy" EXACT [NCIT:C84708]
synonym: "Dunnigan syndrome" EXACT EXCLUDE [DOID:0050440]
synonym: "FPLD" EXACT [Orphanet:98306]
synonym: "genetic partial lipodystrophy" EXACT [MONDO:patterns/genetic]
synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440]
synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660]
xref: DOID:0050440 {source="MONDO:equivalentTo"}
xref: GARD:0011962 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E88.1 {source="Orphanet:98306", source="ORDO:98306/attributed", source="ORDO:98306/ntbt"}
xref: MESH:D052496 {source="DOID:0050440", source="ORDO:98306/e", source="MONDO:equivalentTo", source="Orphanet:98306"}
xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: OMIMPS:151660 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:98306 {source="MONDO:equivalentTo"}
xref: SCTID:49292002 {source="DOID:0050440", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.09"}
xref: UMLS:C0271694 {source="DOID:0050440", source="ORDO:98306/e", source="MONDO:equivalentTo", source="Orphanet:98306", source="NCIT:C84708"}
is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:98306"} ! genetic lipodystrophy
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
is_a: MONDO:0027767 {source="DOID:0050440", source="MONDO:Redundant", source="MONDOLEX:0020088", source="NCIT:C84708"} ! partial lipodystrophy
intersection_of: MONDO:0027767 ! partial lipodystrophy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720859
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1720861
property_value: exactMatch DOID:0050440
property_value: exactMatch http://identifiers.org/mesh/D052496
property_value: exactMatch http://identifiers.org/snomedct/49292002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271694
property_value: exactMatch NCIT:C84708
property_value: exactMatch Orphanet:98306

[Term]
id: MONDO:0020089
name: acquired lipodystrophy
def: "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:98307"}
synonym: "acquired lipodystrophy (disease)" EXACT [MONDO:patterns/acquired]
xref: ICD10:E88.1 {source="ORDO:98307/ntbt", source="Orphanet:98307"}
xref: MedDRA:10049287 {source="ORDO:98307/e", source="Orphanet:98307"}
xref: Orphanet:98307 {source="MONDO:equivalentTo"}
xref: UMLS:C0877192 {source="ORDO:98307/e", source="MONDO:equivalentTo", source="Orphanet:98307"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0006573 ! lipodystrophy (disease)
intersection_of: MONDO:0006573 ! lipodystrophy (disease)
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/meddra/10049287
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877192
property_value: exactMatch Orphanet:98307

[Term]
id: MONDO:0020090
name: male infertility due to gonadal dysgenesis
subset: ordo_group_of_disorders {source="Orphanet:98313"}
synonym: "Male infertility due to testicular dysgenesis" EXACT [Orphanet:98313]
xref: Orphanet:98313 {source="MONDO:equivalentTo"}
is_a: MONDO:0018389 {source="Orphanet:98313"} ! male infertility due to gonadal dysgenesis or sperm disorder
property_value: exactMatch Orphanet:98313

[Term]
id: MONDO:0020091
name: male infertility due to obstructive azoospermia
subset: ordo_group_of_disorders {source="Orphanet:98343"}
synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343]
xref: ICD10:N46 {source="MONDO:subClassOf", source="ORDO:98343/ntbt", source="Orphanet:98343"}
xref: Orphanet:98343 {source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="Orphanet:98343"} ! male infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0020025"} ! rare
property_value: exactMatch Orphanet:98343

[Term]
id: MONDO:0020092
name: rare idiopathic male infertility
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:98345"}
xref: ICD10:N46 {source="MONDO:subClassOf", source="Orphanet:98345", source="ORDO:98345/ntbt"}
xref: Orphanet:98345 {source="MONDO:equivalentTo"}
xref: UMLS:CN227777 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="Orphanet:98345"} ! male infertility
relationship: has_modifier MONDO:0021136 {source="MONDO:0020025"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227777
property_value: exactMatch Orphanet:98345
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020093
name: autosomal dominant isolated diffuse palmoplantar keratoderma
def: "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:98349"}
synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349]
synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:Q82.8 {source="Orphanet:98349", source="ORDO:98349/attributed", source="ORDO:98349/ntbt"}
xref: Orphanet:98349 {source="MONDO:equivalentTo"}
xref: UMLS:CN229268 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017667 {source="MONDO:Redundant", source="MONDOLEX:0020093", source="Orphanet:98349"} ! isolated diffuse palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229268
property_value: exactMatch Orphanet:98349

[Term]
id: MONDO:0020094
name: autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
def: "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98352"}
synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352]
synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:Q82.8 {source="ORDO:98352/attributed", source="ORDO:98352/ntbt", source="Orphanet:98352"}
xref: Orphanet:98352 {source="MONDO:equivalentTo"}
xref: UMLS:CN206998 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017669 {source="MONDO:Redundant", source="MONDOLEX:0020094", source="Orphanet:98352"} ! disease with diffuse palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206998
property_value: exactMatch Orphanet:98352
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0020095
name: autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
def: "Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98353"}
synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353]
synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern]
synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: ICD10:Q82.8 {source="ORDO:98353/attributed", source="ORDO:98353/ntbt", source="Orphanet:98353"}
xref: Orphanet:98353 {source="MONDO:equivalentTo"}
xref: UMLS:CN206999 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017674 {source="MONDO:Redundant", source="MONDOLEX:0020095", source="Orphanet:98353"} ! disease with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206999
property_value: exactMatch Orphanet:98353
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0020096
name: autosomal recessive isolated diffuse palmoplantar keratoderma
def: "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:98356"}
synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356]
synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:Q82.8 {source="Orphanet:98356", source="ORDO:98356/attributed", source="ORDO:98356/ntbt"}
xref: Orphanet:98356 {source="MONDO:equivalentTo"}
xref: UMLS:CN229269 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017667 {source="MONDO:Redundant", source="MONDOLEX:0020096", source="Orphanet:98356"} ! isolated diffuse palmoplantar keratoderma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN229269
property_value: exactMatch Orphanet:98356

[Term]
id: MONDO:0020097
name: autosomal recessive disease with focal palmoplantar keratoderma as a major feature
def: "Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_recessive]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98357"}
synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357]
synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: ICD10:Q82.8 {source="Orphanet:98357", source="ORDO:98357/attributed", source="ORDO:98357/ntbt"}
xref: Orphanet:98357 {source="MONDO:equivalentTo"}
xref: UMLS:CN207000 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017674 {source="MONDO:Redundant", source="MONDOLEX:0020097", source="Orphanet:98357"} ! disease with focal palmoplantar keratoderma as a major feature
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207000
property_value: exactMatch Orphanet:98357
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0020098
name: constitutional anemia due to iron metabolism disorder
subset: ordo_group_of_disorders {source="Orphanet:98360"}
xref: ICD10:D50.8 {source="ORDO:98360/attributed", source="ORDO:98360/ntbt", source="Orphanet:98360"}
xref: Orphanet:98360 {source="MONDO:equivalentTo"}
xref: UMLS:CN227778 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016624 {source="Orphanet:98360"} ! inherited deficiency anemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227778
property_value: exactMatch Orphanet:98360

[Term]
id: MONDO:0020099
name: constitutional sideroblastic anemia
subset: ordo_group_of_disorders {source="Orphanet:98362"}
xref: ICD10:D64.0 {source="ORDO:98362/e", source="ORDO:98362/specific", source="Orphanet:98362"}
xref: Orphanet:98362 {source="MONDO:equivalentTo"}
is_a: MONDO:0015194 {source="MONDOLEX:0020099", source="Orphanet:98362"} ! sideroblastic anemia
property_value: exactMatch Orphanet:98362

[Term]
id: MONDO:0020100
name: obsolete rare hemolytic anemia
def: "Rare hemolytic anemia." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98363"}
synonym: "rare hemolytic anemia" EXACT [MONDO:patterns/rare]
xref: Orphanet:98363 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98363
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664
consider: UMLS:C0002878 {source="Orphanet:98363"}

[Term]
id: MONDO:0020101
name: constitutional hemolytic anemia due to membrane defect
def: "A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." [NCIT:C101218]
subset: ordo_group_of_disorders {source="Orphanet:98364"}
synonym: "anemia due to membrane defect" EXACT [NCIT:C101218]
synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [NCIT:C101218]
synonym: "hemolytic anemia due to membrane defect" EXACT [NCIT:C101218]
synonym: "rare constitutional hemolytic anemia due to a red cell membrane anomaly" EXACT []
xref: NCIT:C101218 {source="MONDO:equivalentTo"}
xref: Orphanet:98364 {source="MONDO:equivalentTo"}
xref: SCTID:111575000 {source="MONDO:equivalentTo"}
xref: UMLS:CN227780 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003689 {source="NCIT:C101218"} ! familial hemolytic anemia
property_value: exactMatch http://identifiers.org/snomedct/111575000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227780
property_value: exactMatch NCIT:C101218
property_value: exactMatch Orphanet:98364

[Term]
id: MONDO:0020102
name: hereditary stomatocytosis
subset: ordo_group_of_disorders {source="Orphanet:98365"}
synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365]
xref: ICD10:D58.8 {source="ORDO:98365/specific", source="ORDO:98365/e", source="Orphanet:98365"}
xref: ICD9:282.8 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98365 {source="MONDO:equivalentTo"}
xref: SCTID:14087004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1262483 {source="MONDO:equivalentTo", source="Orphanet:98365"}
is_a: MONDO:0020101 {source="Orphanet:98365"} ! constitutional hemolytic anemia due to membrane defect
property_value: exactMatch http://identifiers.org/snomedct/14087004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1262483
property_value: exactMatch Orphanet:98365

[Term]
id: MONDO:0020103
name: constitutional hemolytic anemia due to acanthocytosis
subset: ordo_group_of_disorders {source="Orphanet:98366"}
synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366]
xref: ICD10:E78.6 {source="Orphanet:98366", source="ORDO:98366/index", source="ORDO:98366/ntbt"}
xref: Orphanet:98366 {source="MONDO:equivalentTo"}
is_a: MONDO:0020101 {source="MONDO:Redundant", source="Orphanet:98366"} ! constitutional hemolytic anemia due to membrane defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0687751
property_value: exactMatch Orphanet:98366

[Term]
id: MONDO:0020104
name: rare constitutional hemolytic anemia due to an enzyme disorder
comment: Editor note: consider merging with parent
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98369"}
xref: ICD10:D55.0 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: ICD10:D55.1 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: ICD10:D55.2 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: ICD10:D55.3 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: ICD10:D55.8 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: ICD10:D55.9 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"}
xref: Orphanet:98369 {source="MONDO:equivalentTo"}
xref: UMLS:CN227782 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003664 {source="MONDO:Redundant", source="Orphanet:98369"} ! hemolytic anemia
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227782
property_value: exactMatch Orphanet:98369
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020105
name: hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
subset: ordo_group_of_disorders {source="Orphanet:98370"}
xref: ICD10:D55.1 {source="ORDO:98370/e", source="Orphanet:98370", source="ORDO:98370/specific"}
xref: Orphanet:98370 {source="MONDO:equivalentTo"}
is_a: MONDO:0020104 {source="Orphanet:98370"} ! rare constitutional hemolytic anemia due to an enzyme disorder
is_a: MONDO:0056803 ! sulfur metabolism disease
property_value: exactMatch Orphanet:98370

[Term]
id: MONDO:0020106
name: hemolytic anemia due to a disorder of glycolytic enzymes
subset: ordo_group_of_disorders {source="Orphanet:98372"}
xref: ICD10:D55.2 {source="ORDO:98372/e", source="Orphanet:98372", source="ORDO:98372/specific"}
xref: Orphanet:98372 {source="MONDO:equivalentTo"}
xref: UMLS:CN227783 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020107 ! hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
is_a: MONDO:0037792 ! carbohydrate metabolism disease
is_a: MONDO:0045022 ! disorder of organic acid metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227783
property_value: exactMatch Orphanet:98372

[Term]
id: MONDO:0020107
name: hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
subset: ordo_group_of_disorders {source="Orphanet:98374"}
synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374]
xref: ICD10:D55.3 {source="ORDO:98374/specific", source="ORDO:98374/e", source="Orphanet:98374"}
xref: Orphanet:98374 {source="MONDO:equivalentTo"}
xref: UMLS:CN227784 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0020104 {source="Orphanet:98374"} ! rare constitutional hemolytic anemia due to an enzyme disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227784
property_value: exactMatch Orphanet:98374

[Term]
id: MONDO:0020108
name: autoimmune hemolytic anemia
def: "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." [Orphanet:98375]
subset: ordo_group_of_disorders {source="Orphanet:98375"}
synonym: "acquired autoimmune hemolytic anemia" RELATED [GARD:0005870]
synonym: "AHA" EXACT [Orphanet:98375]
synonym: "AIHA" EXACT [Orphanet:98375]
synonym: "anemia hemolytic autoimmune" RELATED [GARD:0005870]
synonym: "anemia, autoimmune hemolytic" RELATED [OMIM:205700]
synonym: "autoimmune haemolytic anaemia" EXACT [DOID:718]
synonym: "autoimmune hemolytic anemia" EXACT [MONDO:0008784]
synonym: "familial auto-immune hemolytic anemia (subtype)" RELATED [GARD:0005870]
synonym: "idiopathic autoimmune hemolytic anemia" RELATED [GARD:0005870]
synonym: "immuno-hemolytic anemia" RELATED [GARD:0005870]
xref: COHD:441269 {source="MONDO:equivalentTo"}
xref: CSP:0427-1178 {source="DOID:718"}
xref: DOID:718 {source="MONDO:equivalentTo"}
xref: EFO:1001264 {source="MONDO:equivalentTo"}
xref: GARD:0005870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:D59.0 {source="ORDO:98375/ntbt", source="MONDO:superClassOf", source="Orphanet:98375"}
xref: ICD10:D59.1 {source="ORDO:98375/ntbt", source="Orphanet:98375"}
xref: ICD9:283.0 {source="MONDO:equivalentTo", source="DOID:718", source="i2s"}
xref: MedDRA:10002046 {source="ORDO:98375/e", source="Orphanet:98375"}
xref: MESH:D000744 {source="MONDO:equivalentTo", source="DOID:718", source="ORDO:98375/e", source="Orphanet:98375"}
xref: NCIT:C34378 {source="MONDO:equivalentTo", source="DOID:718"}
xref: OMIM:205700 {source="MONDO:equivalentTo", source="DOID:718"}
xref: Orphanet:98375 {source="MONDO:equivalentTo"}
xref: SCTID:413603009 {source="MONDO:equivalentTo", source="DOID:718", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0002880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:205700", source="DOID:718", source="NCIT:C34378", source="ORDO:98375/e", source="Orphanet:98375"}
is_a: MONDO:0000602 {source="DOID:718"} ! autoimmune disease of blood
is_a: MONDO:0003664 ! hemolytic anemia
disjoint_from: MONDO:0021559 ! non-autoimmune hemolytic anemia
relationship: excluded_subClassOf MONDO:0015911 {source="Orphanet:98375"} ! obsolete rare acquired hemolytic anemia
property_value: closeMatch http://identifiers.org/snomedct/154803002
property_value: closeMatch http://identifiers.org/snomedct/191209000
property_value: closeMatch http://identifiers.org/snomedct/191215000
property_value: closeMatch http://identifiers.org/snomedct/25121006
property_value: exactMatch DOID:718
property_value: exactMatch http://identifiers.org/meddra/10002046
property_value: exactMatch http://identifiers.org/mesh/D000744
property_value: exactMatch http://identifiers.org/omim/205700
property_value: exactMatch http://identifiers.org/snomedct/413603009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002880
property_value: exactMatch NCIT:C34378
property_value: exactMatch Orphanet:98375

[Term]
id: MONDO:0020109
name: constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
subset: ordo_group_of_disorders {source="Orphanet:98396"}
xref: ICD10:D51.0 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: ICD10:D51.1 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: ICD10:D51.2 {source="ORDO:98396/btnt", source="MONDO:superClassOf", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: ICD10:D51.3 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: ICD10:D51.8 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: ICD10:D51.9 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"}
xref: Orphanet:98396 {source="MONDO:equivalentTo"}
xref: UMLS:CN227785 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000424 ! inborn vitamin B12 deficiency (disease)
is_a: MONDO:0001700 ! megaloblastic anemia (disease)
is_a: MONDO:0016624 {source="Orphanet:98396"} ! inherited deficiency anemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227785
property_value: exactMatch Orphanet:98396

[Term]
id: MONDO:0020110
name: pulmonary agenesis
def: "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." [NCIT:C99028]
subset: ordo_morphological_anomaly {source="Orphanet:984"}
synonym: "congenital absence of lung" EXACT [NCIT:C99028]
synonym: "congenital lung agenesis" RELATED [GARD:0009119]
synonym: "unilateral lobar pulmonary agenesis" RELATED [GARD:0009119]
synonym: "unilateral lung agenesis" RELATED [GARD:0009119]
xref: GARD:0009119 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q33.3 {source="Orphanet:984", source="ORDO:984/e"}
xref: ICD9:748.5 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10037322 {source="Orphanet:984", source="ORDO:984/e"}
xref: NCIT:C99028 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:984 {source="MONDO:equivalentTo"}
xref: SCTID:66489009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.43/0.14"}
xref: UMLS:C0265780 {source="Orphanet:984", source="MONDO:equivalentTo", source="NCIT:C99028", source="ORDO:984/e"}
is_a: MONDO:0015221 {source="Orphanet:984"} ! non-syndromic respiratory or mediastinal malformation
is_a: MONDO:0015930 {source="Orphanet:984"} ! respiratory malformation
property_value: exactMatch http://identifiers.org/meddra/10037322
property_value: exactMatch http://identifiers.org/snomedct/66489009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265780
property_value: exactMatch NCIT:C99028
property_value: exactMatch Orphanet:984

[Term]
id: MONDO:0020111
name: constitutional megaloblastic anemia due to folate metabolism disorder
subset: ordo_group_of_disorders {source="Orphanet:98408"}
xref: ICD10:D52.8 {source="ORDO:98408/attributed", source="ORDO:98408/ntbt", source="Orphanet:98408"}
xref: Orphanet:98408 {source="MONDO:equivalentTo"}
xref: UMLS:CN227786 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000688 ! inherited organic acidemia
is_a: MONDO:0001700 {source="MONDO:Redundant", source="MONDO:cjm"} ! megaloblastic anemia (disease)
is_a: MONDO:0005528 ! inborn vitamin metabolic disorder
is_a: MONDO:0016624 {source="Orphanet:98408"} ! inherited deficiency anemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227786
property_value: exactMatch Orphanet:98408

[Term]
id: MONDO:0020112
name: vitamin B12- and folate-independent constitutional megaloblastic anemia
subset: ordo_group_of_disorders {source="Orphanet:98415"}
xref: ICD10:D53.0 {source="MONDO:relatedTo", source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"}
xref: ICD10:D53.1 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"}
xref: ICD10:D53.2 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"}
xref: ICD10:D53.8 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"}
xref: ICD10:D53.9 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"}
xref: Orphanet:98415 {source="MONDO:equivalentTo"}
is_a: MONDO:0001700 {source="MONDO:cjm"} ! megaloblastic anemia (disease)
is_a: MONDO:0016624 {source="Orphanet:98415"} ! inherited deficiency anemia
property_value: exactMatch Orphanet:98415

[Term]
id: MONDO:0020113
name: red cell aplasia
subset: ordo_group_of_disorders {source="Orphanet:98421"}
xref: ICD10:D60.0 {source="Orphanet:98421", source="ORDO:98421/ntbt"}
xref: ICD10:D60.1 {source="Orphanet:98421", source="ORDO:98421/ntbt"}
xref: ICD10:D60.8 {source="Orphanet:98421", source="ORDO:98421/ntbt"}
xref: ICD10:D60.9 {source="Orphanet:98421", source="ORDO:98421/ntbt"}
xref: MedDRA:10038184 {source="Orphanet:98421", source="ORDO:98421/e"}
xref: Orphanet:98421 {source="MONDO:equivalentTo"}
is_a: MONDO:0015610 {source="Orphanet:98421"} ! acquired aplastic anemia
property_value: exactMatch http://identifiers.org/meddra/10038184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0281963
property_value: exactMatch Orphanet:98421

[Term]
id: MONDO:0020114
name: obsolete polycythemia
is_obsolete: true
replaced_by: MONDO:0005571

[Term]
id: MONDO:0020115
name: secondary polycythemia
def: "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." [Orphanet:98428]
subset: ordo_group_of_disorders {source="Orphanet:98428"}
synonym: "secondary erythrocytosis" EXACT [Orphanet:98428]
synonym: "secondary polycythemia" EXACT [NCIT:C27178]
xref: COHD:435790 {source="MONDO:equivalentTo"}
xref: ICD10:D75.1 {source="ORDO:98428/specific", source="ORDO:98428/e", source="Orphanet:98428"}
xref: MedDRA:10036062 {source="ORDO:98428/e", source="Orphanet:98428"}
xref: NCIT:C27178 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.86/0.21"}
xref: Orphanet:98428 {source="MONDO:equivalentTo"}
xref: UMLS:C1318533 {source="NCIT:C27178", source="ORDO:98428/e", source="MONDO:equivalentTo", source="Orphanet:98428"}
is_a: MONDO:0005571 {source="NCIT:C27178/inferred", source="Orphanet:98428", source="Orphanet:98428/inferred"} ! polycythemia (disease)
relationship: excluded_subClassOf MONDO:0015549 {source="Orphanet:98428"} ! obsolete rare genetic hematologic disease
property_value: exactMatch http://identifiers.org/meddra/10036062
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318533
property_value: exactMatch NCIT:C27178
property_value: exactMatch Orphanet:98428

[Term]
id: MONDO:0020116
name: obsolete rare blood coagulation disease
def: "Any of the forms of blood coagulation disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98429"}
synonym: "rare blood coagulation disease" EXACT [MONDO:patterns/rare]
synonym: "rare coagulation disorder" RELATED [Orphanet:98429]
xref: Orphanet:98429 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98429
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001531
consider: UMLS:C0005779 {source="Orphanet:98429"}

[Term]
id: MONDO:0020117
name: alpha granule disease
subset: ordo_group_of_disorders {source="Orphanet:98455"}
xref: ICD10:D69.1 {source="Orphanet:98455", source="ORDO:98455/attributed", source="ORDO:98455/ntbt"}
xref: Orphanet:98455 {source="MONDO:equivalentTo"}
xref: UMLS:CN207009 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016361 {source="Orphanet:98455"} ! isolated hereditary giant platelet disorder
is_a: MONDO:0044969 ! disease of membrane bound organelle
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207009
property_value: exactMatch Orphanet:98455

[Term]
id: MONDO:0020118
name: dense granule disease
subset: ordo_group_of_disorders {source="Orphanet:98456"}
synonym: "Delta granule disease" EXACT [Orphanet:98456]
xref: ICD10:D69.1 {source="Orphanet:98456", source="ORDO:98456/attributed", source="ORDO:98456/ntbt"}
xref: Orphanet:98456 {source="MONDO:equivalentTo"}
xref: UMLS:CN207010 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018795 {source="Orphanet:98456"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0044969 ! disease of membrane bound organelle
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207010
property_value: exactMatch Orphanet:98456

[Term]
id: MONDO:0020119
name: X-linked syndromic intellectual disability
def: "A syndromic intellectual disability with an X-linked mode of inheritance." [MONDO:DesignPattern]
subset: ordo_group_of_disorders {source="Orphanet:98464"}
synonym: "mental retardation, X-linked syndromic" EXACT [OMIMPS:309510]
synonym: "syndromic intellectual disability, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "syndromic X-linked intellectual disability" EXACT [MONDO:0000738]
synonym: "syndromic X-linked mental retardation" EXACT [DOID:0060309]
xref: DOID:0060309 {source="MONDO:equivalentTo"}
xref: OMIMPS:309510 {source="MONDO:equivalentTo", source="DOID:0060309"}
xref: Orphanet:98464 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:98464"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0060309
property_value: exactMatch Orphanet:98464

[Term]
id: MONDO:0020120
name: skeletal muscle disease
def: "A disease involving the skeletal muscle tissue." [MONDO:patterns/location_top]
subset: ordo_group_of_disorders {source="Orphanet:98472"}
synonym: "disease of skeletal muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal muscle tissue" EXACT []
synonym: "disorder of skeletal muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of skeletal muscle tissue" RELATED [MONDO:patterns/location_top]
synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location]
synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MedDRA:10028641 {source="ORDO:98472/e", source="Orphanet:98472"}
xref: Orphanet:98472 {source="MONDO:equivalentTo"}
xref: SCTID:75047002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
xref: UMLS:C1533847 {source="MONDO:equivalentTo", source="ORDO:98472/e", source="Orphanet:98472"}
is_a: MONDO:0003939 ! muscle tissue disease
is_a: MONDO:0019056 {source="Orphanet:98472"} ! neuromuscular disease
property_value: exactMatch http://identifiers.org/meddra/10028641
property_value: exactMatch http://identifiers.org/mesh/D009135
property_value: exactMatch http://identifiers.org/snomedct/75047002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533847
property_value: exactMatch Orphanet:98472

[Term]
id: MONDO:0020121
name: muscular dystrophy
def: "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids , anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." [https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy]
subset: gard_rare {source="GARD:0007922"}
subset: ordo_group_of_disorders {source="Orphanet:98473"}
xref: COHD:4247802 {source="MONDO:equivalentTo"}
xref: DOID:9884 {source="MONDO:equivalentTo"}
xref: GARD:0007922 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:equivalentTo", source="ORDO:98473/specific", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"}
xref: ICD9:359.1 {source="DOID:9884"}
xref: MedDRA:10028356 {source="ORDO:98473/e", source="Orphanet:98473"}
xref: MESH:D009136 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"}
xref: NCIT:C84910 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:9884"}
xref: Orphanet:98473 {source="MONDO:equivalentTo"}
xref: SCTID:73297009 {source="MONDO:kboom-pr-0.95/0.75/1.92", source="MONDO:equivalentTo", source="DOID:9884"}
xref: UMLS:C0026850 {source="NCIT:C84910", source="MONDO:equivalentTo", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"}
is_a: MONDO:0005336 {source="DOID:9884", source="NCIT:C84910", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy
is_a: MONDO:0020120 {source="Orphanet:98473", source="Orphanet:98473/inferred", source="linkedlifedata"} ! skeletal muscle disease
property_value: closeMatch http://identifiers.org/snomedct/155095006
property_value: closeMatch http://identifiers.org/snomedct/193225000
property_value: closeMatch http://identifiers.org/snomedct/193236007
property_value: closeMatch http://identifiers.org/snomedct/193257004
property_value: closeMatch http://identifiers.org/snomedct/267712004
property_value: closeMatch http://identifiers.org/snomedct/44292004
property_value: exactMatch DOID:9884
property_value: exactMatch http://identifiers.org/meddra/10028356
property_value: exactMatch http://identifiers.org/mesh/D009136
property_value: exactMatch http://identifiers.org/snomedct/73297009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026850
property_value: exactMatch NCIT:C84910
property_value: exactMatch Orphanet:98473
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy xsd:anyURI {source="GARD:0007922"}

[Term]
id: MONDO:0020122
name: idiopathic inflammatory myopathy
def: "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." [NCIT:C116796]
subset: ordo_group_of_disorders {source="Orphanet:98482"}
synonym: "idiopathic inflammatory myopathies" EXACT [NCIT:C116796]
synonym: "idiopathic inflammatory myopathy, familial" RELATED [GARD:0009128]
synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482]
synonym: "IIm" EXACT [NCIT:C116796]
synonym: "IMM" EXACT [Orphanet:98482]
xref: GARD:0009128 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD9:359.79 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116796 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:98482 {source="MONDO:equivalentTo"}
xref: SCTID:702380008 {source="MONDO:kboom-pr-0.92/0.84/0.06", source="MONDO:equivalentTo"}
xref: UMLS:C0751356 {source="MONDO:equivalentTo", source="NCIT:C116796", source="ORDO:98482/e", source="Orphanet:98482"}
is_a: MONDO:0000589 ! autoimmune disease of musculoskeletal system
is_a: MONDO:0000774 ! autoimmune neuropathy
is_a: MONDO:0015939 {source="Orphanet:98482"} ! systemic autoimmune disease
is_a: MONDO:0016105 {source="Orphanet:98482"} ! acquired skeletal muscle disease
property_value: exactMatch http://identifiers.org/snomedct/702380008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751356
property_value: exactMatch NCIT:C116796
property_value: exactMatch Orphanet:98482

[Term]
id: MONDO:0020123
name: metabolic myopathy
def: "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." [NCIT:C98985]
subset: ordo_group_of_disorders {source="Orphanet:98486"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10068836 {source="ORDO:98486/e", source="Orphanet:98486"}
xref: NCIT:C98985 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:98486 {source="MONDO:equivalentTo"}
xref: SCTID:26111005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0270984 {source="MONDO:equivalentTo", source="NCIT:C98985", source="ORDO:98486/e", source="Orphanet:98486"}
is_a: MONDO:0016110 {source="Orphanet:98486"} ! non-dystrophic myopathy
property_value: exactMatch http://identifiers.org/meddra/10068836
property_value: exactMatch http://identifiers.org/snomedct/26111005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270984
property_value: exactMatch NCIT:C98985
property_value: exactMatch Orphanet:98486

[Term]
id: MONDO:0020124
name: neuromuscular junction disease
def: "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." [MESH:D020511]
subset: ordo_group_of_disorders {source="Orphanet:98491"}
xref: DOID:439 {source="MONDO:equivalentTo"}
xref: ICD10:G70.0 {source="ORDO:98491/ntbt", source="MONDO:superClassOf", source="Orphanet:98491"}
xref: ICD10:G70.1 {source="ORDO:98491/ntbt", source="Orphanet:98491"}
xref: ICD10:G70.2 {source="ORDO:98491/ntbt", source="Orphanet:98491"}
xref: ICD10:G70.8 {source="ORDO:98491/ntbt", source="Orphanet:98491"}
xref: ICD10:G70.9 {source="ORDO:98491/ntbt", source="Orphanet:98491"}
xref: MESH:D020511 {source="DOID:439", source="MONDO:equivalentTo", source="ORDO:98491/e", source="Orphanet:98491", source="MONDO:ontobio"}
xref: Orphanet:98491 {source="MONDO:equivalentTo"}
xref: SCTID:128213006 {source="DOID:439", source="MONDO:equivalentTo"}
xref: UMLS:C0751950 {source="DOID:439", source="MONDO:equivalentTo", source="ORDO:98491/e", source="Orphanet:98491"}
is_a: MONDO:0019056 {source="DOID:439", source="MESH:D020511", source="Orphanet:98491"} ! neuromuscular disease
is_a: MONDO:0021017 ! synaptopathy
property_value: exactMatch DOID:439
property_value: exactMatch http://identifiers.org/mesh/D020511
property_value: exactMatch http://identifiers.org/snomedct/128213006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751950
property_value: exactMatch Orphanet:98491

[Term]
id: MONDO:0020125
name: acquired neuromuscular junction disease
def: "An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:98494"}
synonym: "acquired neuromuscular junction disease" EXACT [MONDO:patterns/acquired]
xref: Orphanet:98494 {source="MONDO:equivalentTo"}
xref: UMLS:CN207015 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015923 ! acquired peripheral neuropathy
is_a: MONDO:0020124 {source="MONDO:Redundant", source="Orphanet:98494"} ! neuromuscular junction disease
intersection_of: MONDO:0020124 ! neuromuscular junction disease
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207015
property_value: exactMatch Orphanet:98494

[Term]
id: MONDO:0020126
name: obsolete rare peripheral neuropathy
def: "Rare peripheral neuropathy." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98496"}
synonym: "rare peripheral neuropathy" EXACT [MONDO:patterns/rare]
xref: Orphanet:98496 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98496
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005244
consider: UMLS:C0031117 {source="Orphanet:98496"}

[Term]
id: MONDO:0020127
name: genetic peripheral neuropathy
def: "Genetic peripheral neuropathy." []
subset: clingen
subset: ordo_group_of_disorders {source="Orphanet:98497"}
synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic]
xref: Orphanet:98497 {source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="MONDO:Redundant", source="Orphanet:98497"} ! peripheral neuropathy
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:98497"} ! genetic nervous system disorder
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:98497

[Term]
id: MONDO:0020128
name: motor neuron disease
def: "A disease involving the motor neuron." [MONDO:patterns/location_top]
subset: ordo_group_of_disorders {source="Orphanet:98503"}
synonym: "anterior horn cell disease" EXACT [Orphanet:98503]
synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of motor neuron" EXACT []
synonym: "disorder of motor neuron" EXACT [MONDO:patterns/location_top]
synonym: "disorder of motor neuron" RELATED [MONDO:patterns/location_top]
synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location]
synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: COHD:374631 {source="MONDO:equivalentTo"}
xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"}
xref: EFO:0003782 {source="MONDO:equivalentTo"}
xref: ICD10:G12.2 {source="ORDO:98503/e", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231"}
xref: ICD10:G12.20 {source="DOID:231"}
xref: ICD9:335.2 {source="EFO:0003782", source="DOID:231"}
xref: ICD9:335.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:335.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10028003 {source="ORDO:98503/e", source="Orphanet:98503"}
xref: MESH:D016472 {source="EFO:0003782", source="ORDO:98503/e", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231"}
xref: Orphanet:98503 {source="MONDO:equivalentTo"}
xref: SCTID:37340000 {source="EFO:0003782", source="MONDO:equivalentTo", source="DOID:231"}
is_a: MONDO:0005559 {source="DOID:231", source="EFO:0003782", source="https://github.com/monarch-initiative/mondo/issues/1588"} ! neurodegenerative disease
is_a: MONDO:0019056 {source="MESH:D016472", source="Orphanet:98503"} ! neuromuscular disease
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: closeMatch http://identifiers.org/snomedct/155015007
property_value: closeMatch http://identifiers.org/snomedct/192888001
property_value: closeMatch http://identifiers.org/snomedct/192889009
property_value: closeMatch http://identifiers.org/snomedct/192890000
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154681
property_value: exactMatch DOID:231
property_value: exactMatch http://identifiers.org/meddra/10028003
property_value: exactMatch http://identifiers.org/mesh/D016472
property_value: exactMatch http://identifiers.org/snomedct/37340000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085084
property_value: exactMatch Orphanet:98503

[Term]
id: MONDO:0020129
name: acquired motor neuron disease
def: "An instance of motor neuron disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:98506"}
synonym: "acquired anterior horn cell disease" EXACT [Orphanet:98506]
synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired]
xref: Orphanet:98506 {source="MONDO:equivalentTo"}
xref: UMLS:CN207019 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015923 ! acquired peripheral neuropathy
is_a: MONDO:0020128 {source="MONDO:Redundant", source="Orphanet:98506"} ! motor neuron disease
intersection_of: MONDO:0020128 ! motor neuron disease
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207019
property_value: exactMatch Orphanet:98506

[Term]
id: MONDO:0020130
name: malformation of the cerebellar vermis
subset: ordo_group_of_disorders {source="Orphanet:98514"}
xref: Orphanet:98514 {source="MONDO:equivalentTo"}
is_a: MONDO:0015915 {source="Orphanet:98514"} ! cerebellar malformation
property_value: exactMatch Orphanet:98514

[Term]
id: MONDO:0020131
name: malformation of the cerebellar hemispheres
subset: ordo_group_of_disorders {source="Orphanet:98516"}
xref: ICD10:Q04.3 {source="ORDO:98516/ntbt", source="Orphanet:98516"}
xref: Orphanet:98516 {source="MONDO:equivalentTo"}
is_a: MONDO:0015915 {source="Orphanet:98516"} ! cerebellar malformation
property_value: exactMatch Orphanet:98516

[Term]
id: MONDO:0020132
name: cranial nerve and nuclear aplasia
subset: ordo_group_of_disorders {source="Orphanet:98518"}
xref: Orphanet:98518 {source="MONDO:equivalentTo"}
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:98518", source="Orphanet:98518/inferred"} ! genetic nervous system disorder
is_a: MONDO:0020022 {source="Orphanet:98518/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98518"} ! non-syndromic central nervous system malformation
property_value: exactMatch Orphanet:98518

[Term]
id: MONDO:0020133
name: posterior fossa malformation
subset: ordo_group_of_disorders {source="Orphanet:98519"}
xref: Orphanet:98519 {source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="Orphanet:98519/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98519"} ! non-syndromic central nervous system malformation
property_value: exactMatch Orphanet:98519

[Term]
id: MONDO:0020134
name: cystic malformation of the posterior fossa
subset: ordo_group_of_disorders {source="Orphanet:98520"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98520 {source="MONDO:equivalentTo"}
xref: SCTID:35111000119109 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.64"}
is_a: MONDO:0017104 {source="Orphanet:98520"} ! central nervous system cystic malformation
is_a: MONDO:0020133 {source="Orphanet:98520"} ! posterior fossa malformation
property_value: exactMatch http://identifiers.org/snomedct/35111000119109
property_value: exactMatch Orphanet:98520

[Term]
id: MONDO:0020135
name: pontocerebellar hypoplasia
def: "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." [Orphanet:98523]
subset: gard_rare {source="GARD:0010977"}
subset: ordo_group_of_disorders {source="Orphanet:98523"}
synonym: "isolated pontocerebellar hypoplasia" NARROW [MONDO:DesignPattern]
synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [MONDO:DesignPattern] {comment="Orphanet:98523"}
synonym: "PCH" EXACT [DOID:0060264, Orphanet:98523]
synonym: "pontocerebellar hypoplasia" EXACT [MONDO:0000730]
synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523]
synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523]
xref: DOID:0060264 {source="MONDO:equivalentTo"}
xref: GARD:0010977 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:98523", source="ORDO:98523/attributed", source="ORDO:98523/ntbt"}
xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:607596 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:98523 {source="MONDO:equivalentTo", source="GARD:0010977"}
xref: SCTID:45163000 {source="DOID:0060264", source="MONDO:equivalentTo"}
xref: UMLS:CN924922 {source="MONDO:equivalentTo"}
is_a: MONDO:0020133 {source="Orphanet:98523"} ! posterior fossa malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266468
property_value: exactMatch DOID:0060264
property_value: exactMatch http://identifiers.org/mesh/C580383
property_value: exactMatch http://identifiers.org/snomedct/45163000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924922
property_value: exactMatch Orphanet:98523
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia xsd:anyURI {source="GARD:0010977"}

[Term]
id: MONDO:0020136
name: obsolete neurodegenerative disease with dementia
subset: ordo_group_of_disorders {source="Orphanet:98534"}
xref: Orphanet:98534 {source="MONDO:equivalentTo"}
xref: UMLS:CN207020 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207020
property_value: exactMatch Orphanet:98534
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1498 xsd:string
is_obsolete: true
consider: MONDO:0005559

[Term]
id: MONDO:0020137
name: frontotemporal degeneration with dementia
subset: ordo_group_of_disorders {source="Orphanet:98535"}
xref: ICD10:G31.0 {source="Orphanet:98535", source="ORDO:98535/ntbt"}
xref: Orphanet:98535 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
property_value: exactMatch Orphanet:98535

[Term]
id: MONDO:0020138
name: ataxia with dementia
subset: ordo_group_of_disorders {source="Orphanet:98538"}
xref: Orphanet:98538 {source="MONDO:equivalentTo"}
is_a: MONDO:0021037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:98538"} ! genetic neurodegenerative disease with dementia
property_value: exactMatch Orphanet:98538

[Term]
id: MONDO:0020139
name: early-onset ataxia with dementia
subset: ordo_group_of_disorders {source="Orphanet:98539"}
xref: Orphanet:98539 {source="MONDO:equivalentTo"}
is_a: MONDO:0020138 {source="Orphanet:98539"} ! ataxia with dementia
property_value: exactMatch Orphanet:98539

[Term]
id: MONDO:0020140
name: late-onset ataxia with dementia
subset: ordo_group_of_disorders {source="Orphanet:98540"}
xref: Orphanet:98540 {source="MONDO:equivalentTo"}
is_a: MONDO:0020138 {source="Orphanet:98540"} ! ataxia with dementia
property_value: exactMatch Orphanet:98540

[Term]
id: MONDO:0020141
name: infectious disease with dementia
subset: ordo_group_of_disorders {source="Orphanet:98542"}
xref: Orphanet:98542 {source="MONDO:equivalentTo"}
xref: UMLS:CN207022 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001627 {source="Orphanet:98542"} ! dementia (disease)
is_a: MONDO:0005550 ! infectious disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019515"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207022
property_value: exactMatch Orphanet:98542

[Term]
id: MONDO:0020142
name: metabolic disease with dementia
subset: ordo_group_of_disorders {source="Orphanet:98543"}
xref: Orphanet:98543 {source="MONDO:equivalentTo"}
xref: UMLS:CN207023 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015547 {source="Orphanet:98543"} ! genetic dementia
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207023
property_value: exactMatch Orphanet:98543

[Term]
id: MONDO:0020143
name: cerebral lipidosis with dementia
subset: ordo_group_of_disorders {source="Orphanet:98544"}
synonym: "cerebral lipidosis" EXACT [MONDO:0001107]
xref: COHD:374906 {source="MONDO:equivalentTo"}
xref: DOID:10742 {source="MONDO:equivalentTo"}
xref: ICD9:330.1 {source="DOID:10742", source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:98544 {source="MONDO:equivalentTo"}
xref: SCTID:16517004 {source="DOID:10742", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0007788 {source="DOID:10742", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:10742/inferred", source="linkedlifedata"} ! brain disease
is_a: MONDO:0019245 {source="linkedlifedata"} ! lysosomal lipid storage disorder
is_a: MONDO:0020142 {source="Orphanet:98544"} ! metabolic disease with dementia
property_value: closeMatch http://identifiers.org/snomedct/192786008
property_value: closeMatch http://identifiers.org/snomedct/192789001
property_value: exactMatch DOID:10742
property_value: exactMatch http://identifiers.org/snomedct/16517004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007788
property_value: exactMatch Orphanet:98544

[Term]
id: MONDO:0020144
name: cerebrovascular dementia
subset: ordo_group_of_disorders {source="Orphanet:98549"}
synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549]
xref: Orphanet:98549 {source="MONDO:equivalentTo"}
is_a: MONDO:0001627 {source="MONDO:Redundant", source="Orphanet:98549"} ! dementia (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0019515"} ! rare
property_value: exactMatch Orphanet:98549

[Term]
id: MONDO:0020145
name: developmental defect of the eye
subset: ordo_group_of_disorders {source="Orphanet:98553"}
xref: Orphanet:98553 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98553"} ! eye disease
is_a: MONDO:0019755 {source="Orphanet:98553"} ! developmental defect during embryogenesis
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch Orphanet:98553

[Term]
id: MONDO:0020146
name: major induction processes eye anomaly
subset: ordo_group_of_disorders {source="Orphanet:98554"}
xref: Orphanet:98554 {source="MONDO:equivalentTo"}
is_a: MONDO:0020145 {source="MONDO:Redundant", source="Orphanet:98554"} ! developmental defect of the eye
property_value: exactMatch Orphanet:98554

[Term]
id: MONDO:0020147
name: anophthalmia-microphthalmia syndrome
subset: ordo_group_of_disorders {source="Orphanet:98555"}
xref: ICD10:Q11.0 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"}
xref: ICD10:Q11.1 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"}
xref: ICD10:Q11.2 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"}
xref: Orphanet:98555 {source="MONDO:equivalentTo"}
xref: UMLS:CN120488 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020146 {source="Orphanet:98555"} ! major induction processes eye anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN120488
property_value: exactMatch Orphanet:98555

[Term]
id: MONDO:0020148
name: syndromic aniridia
def: "A aniridia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98557"}
synonym: "syndrome associated with aniridia" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with aniridia" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic aniridia" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98557 {source="MONDO:equivalentTo"}
xref: UMLS:CN227798 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011119 {source="Orphanet:77-adapted-by-cjm", source="Orphanet:98557/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! iridogoniodysgenesis
is_a: MONDO:0015218 ! syndromic developmental defect of the eye
is_a: MONDO:0019172 {source="MONDO:Redundant", source="Orphanet:98557"} ! aniridia
is_a: MONDO:0020225 {source="Orphanet:77-adapted-by-cjm", source="Orphanet:98557", source="Orphanet:98557/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! syndromic cataract
intersection_of: MONDO:0019172 ! aniridia
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227798
property_value: exactMatch Orphanet:98557

[Term]
id: MONDO:0020149
name: rare eye disease due to a differentiation anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98558"}
xref: Orphanet:98558 {source="MONDO:equivalentTo"}
xref: UMLS:CN207024 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020145 {source="Orphanet:98558"} ! developmental defect of the eye
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207024
property_value: exactMatch Orphanet:98558
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020150
name: rare palpebral, lacrimal system and conjunctival disease
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98559"}
xref: Orphanet:98559 {source="MONDO:equivalentTo"}
xref: UMLS:CN207025 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002022 ! disease of orbital region
relationship: excluded_subClassOf MONDO:0015107 {source="Orphanet:98559"} ! obsolete rare genetic eye disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207025
property_value: exactMatch Orphanet:98559
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020151
name: obsolete rare palpebral disease
def: "Any of the forms of eyelid disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98560"}
synonym: "rare eyelid disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98560 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98560
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003382
consider: UMLS:C0015423 {source="Orphanet:98560"}

[Term]
id: MONDO:0020152
name: rare eyelid malformation
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98561"}
synonym: "eyelid malformation" RELATED [Orphanet:98561]
xref: Orphanet:98561 {source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="Orphanet:98561"} ! eyelid disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020151"} ! rare
property_value: exactMatch Orphanet:98561
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020153
name: cryptophthalmia
def: "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." [NCIT:C124520]
subset: ordo_group_of_disorders {source="Orphanet:98562"}
synonym: "cryptophthalmos" EXACT [NCIT:C124520]
xref: GARD:0010505 {source="MONDO:equivalentTo"}
xref: ICD9:743.06 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C124520 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: Orphanet:98562 {source="MONDO:equivalentTo"}
xref: SCTID:400951005 {source="MONDO:kboom-pr-1.00/0.74/6.17", source="MONDO:equivalentTo"}
is_a: MONDO:0020152 {source="Orphanet:98562"} ! rare eyelid malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0311249
property_value: exactMatch http://identifiers.org/snomedct/400951005
property_value: exactMatch NCIT:C124520
property_value: exactMatch Orphanet:98562

[Term]
id: MONDO:0020154
name: microblepharon-ablephara syndrome
subset: ordo_group_of_disorders {source="Orphanet:98563"}
xref: ICD10:Q10.3 {source="ORDO:98563/attributed", source="ORDO:98563/ntbt", source="Orphanet:98563"}
xref: Orphanet:98563 {source="MONDO:equivalentTo"}
xref: UMLS:CN237783 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020152 {source="Orphanet:98563"} ! rare eyelid malformation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237783
property_value: exactMatch Orphanet:98563

[Term]
id: MONDO:0020155
name: eyelid border anomaly
subset: ordo_group_of_disorders {source="Orphanet:98564"}
xref: Orphanet:98564 {source="MONDO:equivalentTo"}
is_a: MONDO:0020152 {source="Orphanet:98564"} ! rare eyelid malformation
property_value: exactMatch Orphanet:98564

[Term]
id: MONDO:0020156
name: syndromic ankyloblepharon
subset: ordo_group_of_disorders {source="Orphanet:98565"}
xref: Orphanet:98565 {source="MONDO:equivalentTo"}
xref: UMLS:CN227801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020155 {source="Orphanet:98565"} ! eyelid border anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227801
property_value: exactMatch Orphanet:98565

[Term]
id: MONDO:0020157
name: syndromic palpebral coloboma
subset: ordo_group_of_disorders {source="Orphanet:98566"}
xref: Orphanet:98566 {source="MONDO:equivalentTo"}
xref: UMLS:CN227802 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020155 {source="Orphanet:98566"} ! eyelid border anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227802
property_value: exactMatch Orphanet:98566

[Term]
id: MONDO:0020158
name: eyelids malposition disorder
subset: ordo_group_of_disorders {source="Orphanet:98567"}
xref: Orphanet:98567 {source="MONDO:equivalentTo"}
xref: UMLS:CN227803 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="Orphanet:98567"} ! eyelid disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020151"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227803
property_value: exactMatch Orphanet:98567

[Term]
id: MONDO:0020159
name: congenital entropion
subset: ordo_group_of_disorders {source="Orphanet:98568"}
xref: ICD10:Q10.2 {source="ORDO:98568/e", source="ORDO:98568/specific", source="Orphanet:98568", source="MONDO:equivalentTo"}
xref: MedDRA:10014923 {source="ORDO:98568/e", source="Orphanet:98568"}
xref: Orphanet:98568 {source="MONDO:equivalentTo"}
xref: SCTID:20392000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.03"}
is_a: MONDO:0001519 {source="MONDO:cjm", source="linkedlifedata"} ! entropion (disease)
is_a: MONDO:0020158 {source="Orphanet:98568"} ! eyelids malposition disorder
property_value: exactMatch http://identifiers.org/meddra/10014923
property_value: exactMatch http://identifiers.org/snomedct/20392000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266579
property_value: exactMatch Orphanet:98568

[Term]
id: MONDO:0020160
name: secondary entropion
subset: ordo_group_of_disorders {source="Orphanet:98569"}
xref: ICD10:H02.0 {source="Orphanet:98569", source="ORDO:98569/attributed", source="ORDO:98569/ntbt"}
xref: Orphanet:98569 {source="MONDO:equivalentTo"}
is_a: MONDO:0020159 {source="Orphanet:98569"} ! congenital entropion
property_value: exactMatch Orphanet:98569

[Term]
id: MONDO:0020161
name: congenital ectropion
subset: ordo_group_of_disorders {source="Orphanet:98570"}
xref: ICD10:Q10.1 {source="MONDO:equivalentTo", source="ORDO:98570/e", source="Orphanet:98570", source="ORDO:98570/specific"}
xref: Orphanet:98570 {source="MONDO:equivalentTo"}
xref: SCTID:26590002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0002043 {source="MONDO:cjm", source="linkedlifedata"} ! ectropion (disease)
is_a: MONDO:0020158 {source="Orphanet:98570"} ! eyelids malposition disorder
property_value: exactMatch http://identifiers.org/snomedct/26590002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266578
property_value: exactMatch Orphanet:98570

[Term]
id: MONDO:0020162
name: secondary ectropion
subset: ordo_group_of_disorders {source="Orphanet:98571"}
xref: ICD10:H02.1 {source="ORDO:98571/attributed", source="ORDO:98571/ntbt", source="Orphanet:98571"}
xref: Orphanet:98571 {source="MONDO:equivalentTo"}
is_a: MONDO:0020158 {source="Orphanet:98571"} ! eyelids malposition disorder
property_value: exactMatch Orphanet:98571

[Term]
id: MONDO:0020163
name: canthal anomaly
subset: ordo_group_of_disorders {source="Orphanet:98572"}
xref: Orphanet:98572 {source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="Orphanet:98572"} ! eyelid disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020151"} ! rare
property_value: exactMatch Orphanet:98572

[Term]
id: MONDO:0020164
name: epicanthal fold
subset: ordo_group_of_disorders {source="Orphanet:98573"}
xref: ICD10:Q10.3 {source="ORDO:98573/ntbt", source="ORDO:98573/index", source="Orphanet:98573"}
xref: Orphanet:98573 {source="MONDO:equivalentTo"}
is_a: MONDO:0020163 {source="MONDO:Redundant", source="Orphanet:98573"} ! canthal anomaly
property_value: exactMatch Orphanet:98573

[Term]
id: MONDO:0020165
name: syndromic epicanthus
subset: ordo_group_of_disorders {source="Orphanet:98574"}
xref: Orphanet:98574 {source="MONDO:equivalentTo"}
xref: UMLS:CN227805 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020164 {source="Orphanet:98574"} ! epicanthal fold
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227805
property_value: exactMatch Orphanet:98574

[Term]
id: MONDO:0020166
name: obsolete telecanthus
is_obsolete: true
replaced_by: MONDO:0008537

[Term]
id: MONDO:0020167
name: malposition of external canthus
subset: ordo_group_of_disorders {source="Orphanet:98576"}
xref: ICD10:Q10.3 {source="Orphanet:98576", source="ORDO:98576/attributed", source="ORDO:98576/ntbt"}
xref: Orphanet:98576 {source="MONDO:equivalentTo"}
is_a: MONDO:0020163 {source="Orphanet:98576"} ! canthal anomaly
property_value: exactMatch Orphanet:98576

[Term]
id: MONDO:0020168
name: kinetic eyelid anomaly
subset: ordo_group_of_disorders {source="Orphanet:98577"}
xref: Orphanet:98577 {source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="Orphanet:98577"} ! eyelid disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020151"} ! rare
property_value: exactMatch Orphanet:98577

[Term]
id: MONDO:0020169
name: rare disorder with ptosis
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98578"}
xref: MedDRA:10015995 {source="ORDO:98578/e", source="Orphanet:98578"}
xref: MedDRA:10037272 {source="ORDO:98578/e", source="Orphanet:98578"}
xref: Orphanet:98578 {source="MONDO:equivalentTo"}
xref: UMLS:CN207031 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020168 {source="Orphanet:98578"} ! kinetic eyelid anomaly
property_value: exactMatch http://identifiers.org/meddra/10015995
property_value: exactMatch http://identifiers.org/meddra/10037272
property_value: exactMatch http://identifiers.org/mesh/D001763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005745
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033377
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207031
property_value: exactMatch Orphanet:98578
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020170
name: congenital upper palpebral retraction
subset: ordo_group_of_disorders {source="Orphanet:98579"}
xref: ICD10:H02.5 {source="Orphanet:98579", source="ORDO:98579/attributed", source="ORDO:98579/ntbt"}
xref: Orphanet:98579 {source="MONDO:equivalentTo"}
is_a: MONDO:0020168 {source="Orphanet:98579"} ! kinetic eyelid anomaly
property_value: exactMatch Orphanet:98579

[Term]
id: MONDO:0020171
name: obsolete palpebral tumor
is_obsolete: true
replaced_by: MONDO:0002235

[Term]
id: MONDO:0020172
name: palpebral epidermal tumor
def: "A neoplasm (disease) that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98581"}
synonym: "neoplasm of skin of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "skin of eyelid neoplasm" EXACT []
synonym: "skin of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "skin of eyelid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of skin of eyelid" EXACT [MONDO:patterns/neoplasm]
xref: Orphanet:98581 {source="MONDO:equivalentTo"}
xref: SCTID:126499002 {source="MONDO:equivalentTo"}
xref: UMLS:CN207033 {source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="Orphanet:98581", source="linkedlifedata"} ! eyelid neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126499002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207033
property_value: exactMatch Orphanet:98581

[Term]
id: MONDO:0020173
name: benign tumor of palpebral epidermis
def: "A benign neoplasm that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98582"}
synonym: "skin of eyelid benign neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:98582 {source="MONDO:equivalentTo"}
xref: UMLS:CN207034 {source="MONDO:equivalentTo"}
is_a: MONDO:0020172 {source="MONDO:Redundant", source="Orphanet:98582"} ! palpebral epidermal tumor
is_a: MONDO:0021605 ! benign eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207034
property_value: exactMatch Orphanet:98582

[Term]
id: MONDO:0020174
name: precancerous lesion of palpebral epidermis
def: "A precancerous condition that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98583"}
synonym: "skin of eyelid precancerous condition" EXACT [MONDO:patterns/location]
xref: Orphanet:98583 {source="MONDO:equivalentTo"}
is_a: MONDO:0020172 {source="Orphanet:98583"} ! palpebral epidermal tumor
is_a: MONDO:0021074 ! precancerous condition
property_value: exactMatch Orphanet:98583

[Term]
id: MONDO:0020175
name: malignant tumor of palpebral epidermis
def: "A cancer that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98584"}
synonym: "cancer of skin of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skin of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "malignant skin of eyelid neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "skin of eyelid cancer" EXACT [MONDO:patterns/location]
xref: Orphanet:98584 {source="MONDO:equivalentTo"}
xref: SCTID:423425006 {source="MONDO:equivalentTo"}
xref: UMLS:CN207035 {source="MONDO:equivalentTo"}
is_a: MONDO:0020172 {source="MONDO:Redundant", source="MONDOLEX:0020175", source="Orphanet:98584", source="linkedlifedata"} ! palpebral epidermal tumor
is_a: MONDO:0021313 ! eyelid cancer
property_value: exactMatch http://identifiers.org/snomedct/423425006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207035
property_value: exactMatch Orphanet:98584

[Term]
id: MONDO:0020176
name: palpebral sebaceous gland tumor
def: "A neoplasm (disease) that involves the sebaceous gland of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98585"}
synonym: "neoplasm of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "sebaceous gland of eyelid neoplasm" EXACT []
synonym: "sebaceous gland of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland of eyelid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm]
xref: Orphanet:98585 {source="MONDO:equivalentTo"}
xref: UMLS:CN207036 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="Orphanet:98585"} ! eyelid neoplasm
is_a: MONDO:0006963 ! sebaceous gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207036
property_value: exactMatch Orphanet:98585

[Term]
id: MONDO:0020177
name: pigmented palpebral tumor
subset: ordo_group_of_disorders {source="Orphanet:98586"}
synonym: "pigmented eyelid tumor" EXACT [MONDO:patterns/location]
synonym: "pigmented palpebral neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:98586 {source="MONDO:equivalentTo"}
xref: UMLS:CN207037 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="Orphanet:98586"} ! eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207037
property_value: exactMatch Orphanet:98586

[Term]
id: MONDO:0020178
name: palpebral lentiginosis
def: "A lentigo that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98587"}
synonym: "skin of eyelid lentigo" EXACT [MONDO:patterns/location]
xref: Orphanet:98587 {source="MONDO:equivalentTo"}
is_a: MONDO:0020173 ! benign tumor of palpebral epidermis
is_a: MONDO:0020177 {source="Orphanet:98587"} ! pigmented palpebral tumor
is_a: MONDO:0021582 ! lentigo
property_value: exactMatch Orphanet:98587

[Term]
id: MONDO:0020179
name: palpebral nevus
def: "A melanocytic nevus that involves the skin of eyelid." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:98588"}
synonym: "eyelid Nevus" EXACT [NCIT:C3880]
synonym: "melanocytic nevus of skin of eyelid" EXACT [MONDO:design_pattern]
synonym: "Nevus of eyelid" EXACT [NCIT:C3880]
synonym: "Nevus of the eyelid" EXACT [NCIT:C3880]
synonym: "skin of eyelid melanocytic nevus" EXACT [MONDO:patterns/location]
xref: NCIT:C3880 {source="MONDO:equivalentTo"}
xref: Orphanet:98588 {source="MONDO:equivalentTo"}
xref: SCTID:231827008 {source="MONDO:equivalentTo"}
xref: UMLS:C0239460 {source="Orphanet:98588", source="NCIT:C3880", source="MONDO:equivalentTo", source="ORDO:98588/e"}
is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3880", source="indirect", source="linkedlifedata"} ! melanocytic nevus
is_a: MONDO:0020173 ! benign tumor of palpebral epidermis
is_a: MONDO:0020177 {source="Orphanet:98588"} ! pigmented palpebral tumor
property_value: exactMatch http://identifiers.org/snomedct/231827008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239460
property_value: exactMatch NCIT:C3880
property_value: exactMatch Orphanet:98588

[Term]
id: MONDO:0020180
name: palpebral piliary tumor
subset: ordo_group_of_disorders {source="Orphanet:98590"}
xref: Orphanet:98590 {source="MONDO:equivalentTo"}
xref: UMLS:CN207040 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="Orphanet:98590"} ! eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207040
property_value: exactMatch Orphanet:98590

[Term]
id: MONDO:0020181
name: mesenchymatous palpebral tumor
subset: ordo_group_of_disorders {source="Orphanet:98591"}
xref: Orphanet:98591 {source="MONDO:equivalentTo"}
xref: UMLS:CN207041 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="Orphanet:98591"} ! eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207041
property_value: exactMatch Orphanet:98591

[Term]
id: MONDO:0020182
name: palpebral tumor with a vascular malformation
subset: ordo_group_of_disorders {source="Orphanet:98592"}
xref: Orphanet:98592 {source="MONDO:equivalentTo"}
xref: UMLS:CN207042 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="Orphanet:98592"} ! eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207042
property_value: exactMatch Orphanet:98592

[Term]
id: MONDO:0020183
name: neurogenic palpebral tumor
subset: ordo_disease {source="Orphanet:98593"}
xref: Orphanet:98593 {source="MONDO:equivalentTo"}
xref: UMLS:CN207043 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="Orphanet:98593"} ! eyelid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207043
property_value: exactMatch Orphanet:98593

[Term]
id: MONDO:0020184
name: obsolete rare eyebrow/eyelashes anomaly
comment: Editor note: does not align with anatomy
subset: ordo_group_of_disorders {source="Orphanet:98594"}
xref: Orphanet:98594 {source="MONDO:equivalentTo"}
xref: UMLS:CN227808 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
relationship: excluded_subClassOf MONDO:0003382 {source="MONDO:disputed", source="Orphanet:98594"} ! eyelid disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227808
property_value: exactMatch Orphanet:98594
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
consider: HP:0000499
consider: HP:0000534

[Term]
id: MONDO:0020185
name: obsolete eyebrow/eyelashes hypertrichosis
subset: ordo_group_of_disorders {source="Orphanet:98595"}
xref: ICD10:L68.2 {source="ORDO:98595/attributed", source="ORDO:98595/ntbt", source="Orphanet:98595"}
xref: Orphanet:98595 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98595
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true

[Term]
id: MONDO:0020186
name: obsolete eyebrow hypertrophy
subset: ordo_group_of_disorders {source="Orphanet:98596"}
xref: Orphanet:98596 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98596
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true

[Term]
id: MONDO:0020187
name: obsolete eyelashes hypertrophy
subset: ordo_group_of_disorders {source="Orphanet:98597"}
synonym: "eyelashes polytrichia" EXACT [Orphanet:98597]
synonym: "eyelashes trichomegalia" EXACT [Orphanet:98597]
xref: Orphanet:98597 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98597
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true

[Term]
id: MONDO:0020188
name: obsolete congenital absence of the eyebrow/eyelashes
subset: ordo_group_of_disorders {source="Orphanet:98598"}
xref: Orphanet:98598 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98598
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true
consider: HP:0000653
consider: HP:0002223

[Term]
id: MONDO:0020189
name: obsolete eyebrow/eyelashes structural anomaly
subset: ordo_group_of_disorders {source="Orphanet:98599"}
xref: Orphanet:98599 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98599
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true
consider: HP:0000499
consider: HP:0000534

[Term]
id: MONDO:0020190
name: obsolete eyebrow/eyelashes distichiasis
subset: ordo_group_of_disorders {source="Orphanet:98600"}
xref: Orphanet:98600 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98600
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true
consider: HP:0009743

[Term]
id: MONDO:0020191
name: obsolete eyebrow/eyelashes pigmentation anomaly
subset: ordo_group_of_disorders {source="Orphanet:98601"}
xref: Orphanet:98601 {source="MONDO:equivalentTo"}
property_value: exactMatch Orphanet:98601
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:string
is_obsolete: true
consider: HP:0002226
consider: HP:0002227

[Term]
id: MONDO:0020192
name: obsolete rare lacrimal system disease
def: "Any of the forms of lacrimal apparatus disease that have a rare incidence." [MONDO:patterns/rare]
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98602"}
synonym: "rare lacrimal apparatus disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98602 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98602
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001854
consider: UMLS:C0022904 {source="Orphanet:98602"}

[Term]
id: MONDO:0020193
name: secretory apparatus of the lacrimal system anomaly
subset: ordo_group_of_disorders {source="Orphanet:98603"}
synonym: "disease of lacrimal gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lacrimal gland" RELATED [MONDO:patterns/location_top]
synonym: "lacrimal gland disease" EXACT [MONDO:patterns/location]
xref: Orphanet:98603 {source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="Orphanet:98603"} ! lacrimal apparatus disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020192"} ! rare
property_value: exactMatch Orphanet:98603

[Term]
id: MONDO:0020194
name: congenital alacrima
subset: ordo_group_of_disorders {source="Orphanet:98604"}
xref: Orphanet:98604 {source="MONDO:equivalentTo"}
is_a: MONDO:0020193 {source="Orphanet:98604"} ! secretory apparatus of the lacrimal system anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863199
property_value: exactMatch Orphanet:98604

[Term]
id: MONDO:0020195
name: excretory apparatus of the lacrimal system anomaly
subset: ordo_group_of_disorders {source="Orphanet:98605"}
xref: Orphanet:98605 {source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="Orphanet:98605"} ! lacrimal apparatus disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020192"} ! rare
property_value: exactMatch Orphanet:98605

[Term]
id: MONDO:0020196
name: anomaly of the secretory and excretory apparatus of the lacrimal system
subset: ordo_group_of_disorders {source="Orphanet:98608"}
xref: Orphanet:98608 {source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="Orphanet:98608"} ! lacrimal apparatus disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020192"} ! rare
property_value: exactMatch Orphanet:98608

[Term]
id: MONDO:0020197
name: EEC syndrome and related syndrome
comment: Editor note: check this
subset: ordo_group_of_disorders {source="Orphanet:98609"}
xref: Orphanet:98609 {source="MONDO:equivalentTo"}
xref: UMLS:CN207046 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:98609"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020196 {source="Orphanet:98609"} ! anomaly of the secretory and excretory apparatus of the lacrimal system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207046
property_value: exactMatch Orphanet:98609

[Term]
id: MONDO:0020198
name: obsolete rare conjunctival disease
def: "Rare conjunctival disease." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98610"}
synonym: "rare conjunctival disease" EXACT [MONDO:patterns/rare]
xref: Orphanet:98610 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98610
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002932
consider: UMLS:C0009759 {source="Orphanet:98610"}

[Term]
id: MONDO:0020199
name: conjunctival vascular anomaly
subset: ordo_group_of_disorders {source="Orphanet:98611"}
xref: Orphanet:98611 {source="MONDO:equivalentTo"}
is_a: MONDO:0001174 ! conjunctival vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0020198"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042370
property_value: exactMatch Orphanet:98611

[Term]
id: MONDO:0020200
name: conjunctival hemangioma or hemolymphangioma
subset: ordo_group_of_disorders {source="Orphanet:98612"}
xref: Orphanet:98612 {source="MONDO:equivalentTo"}
is_a: MONDO:0020199 {source="Orphanet:98612"} ! conjunctival vascular anomaly
property_value: exactMatch Orphanet:98612

[Term]
id: MONDO:0020201
name: conjunctival telangiectasia (disease)
subset: ordo_group_of_disorders {source="Orphanet:98613"}
synonym: "conjunctival telangiectasia" EXACT [MONDO:ambiguous]
xref: HP:0000524 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MedDRA:10072143 {source="ORDO:98613/e", source="Orphanet:98613"}
xref: Orphanet:98613 {source="MONDO:equivalentTo"}
xref: UMLS:C0239105 {source="Orphanet:98613", source="MONDO:equivalentTo"}
is_a: MONDO:0020199 {source="Orphanet:98613"} ! conjunctival vascular anomaly
property_value: exactMatch http://identifiers.org/meddra/10072143
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239105
property_value: exactMatch Orphanet:98613

[Term]
id: MONDO:0020202
name: conjunctival lymphangiectasia
subset: ordo_group_of_disorders {source="Orphanet:98614"}
xref: ICD9:372.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98614 {source="MONDO:equivalentTo"}
xref: SCTID:231871007 {source="MONDO:kboom-pr-0.99/0.73/5.28", source="MONDO:equivalentTo"}
xref: UMLS:C0339186 {source="ORDO:98614/e", source="MONDO:equivalentTo", source="Orphanet:98614"}
is_a: MONDO:0020199 {source="Orphanet:98614"} ! conjunctival vascular anomaly
property_value: exactMatch http://identifiers.org/snomedct/231871007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339186
property_value: exactMatch Orphanet:98614

[Term]
id: MONDO:0020203
name: pigmented conjunctival lesion
subset: ordo_group_of_disorders {source="Orphanet:98615"}
xref: Orphanet:98615 {source="MONDO:equivalentTo"}
is_a: MONDO:0006170 {source="Orphanet:98615"} ! conjunctival disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0020198"} ! rare
property_value: exactMatch Orphanet:98615

[Term]
id: MONDO:0020204
name: conjunctival tumor
def: "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." [NCIT:C2961]
subset: ordo_group_of_disorders {source="Orphanet:98616"}
synonym: "conjunctiva neoplasm" EXACT [NCIT:C2961]
synonym: "conjunctiva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "conjunctiva tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "conjunctival neoplasm" EXACT [NCIT:C2961]
synonym: "conjunctival neoplasms" EXACT [NCIT:C2961]
synonym: "conjunctival tumor" EXACT [NCIT:C2961]
synonym: "neoplasm of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "neoplasm of the conjunctiva" EXACT [NCIT:C2961]
synonym: "tumor of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "tumor of the conjunctiva" EXACT [NCIT:C2961]
xref: NCIT:C2961 {source="MONDO:kboom-pr-0.91/0.76/0.86", source="MONDO:equivalentTo"}
xref: Orphanet:98616 {source="MONDO:equivalentTo"}
is_a: MONDO:0006170 {source="NCIT:C2961"} ! conjunctival disorder
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C2961", source="indirect"} ! eye neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020198"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009761
property_value: exactMatch NCIT:C2961
property_value: exactMatch Orphanet:98616

[Term]
id: MONDO:0020205
name: bulbar conjunctival dermoid or conjunctival dermolipoma
subset: ordo_group_of_disorders {source="Orphanet:98617"}
xref: Orphanet:98617 {source="MONDO:equivalentTo"}
is_a: MONDO:0020204 {source="Orphanet:98617"} ! conjunctival tumor
property_value: exactMatch Orphanet:98617

[Term]
id: MONDO:0020206
name: rare refraction anomaly
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98618"}
xref: Orphanet:98618 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98618"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034951
property_value: exactMatch Orphanet:98618
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020207
name: obsolete rare isolated myopia
def: "Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." [Orphanet:98619]
subset: obsoletion_candidate
subset: ordo_disease {source="Orphanet:98619"}
xref: Orphanet:98619 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN924920 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN924920
property_value: exactMatch Orphanet:98619
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001384
consider: OMIM:608908 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"}
consider: OMIM:614292 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"}
consider: OMIM:615431 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"}
consider: UMLS:C0027092 {source="MONDO:relatedTo", source="Orphanet:98619"}

[Term]
id: MONDO:0020208
name: syndromic myopia
def: "A myopia (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98620"}
synonym: "syndrome associated with myopia (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with myopia (disease)" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic myopia (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98620 {source="MONDO:equivalentTo"}
xref: UMLS:CN227818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 ! myopia (disease)
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015965 {source="Orphanet:98620"} ! rare genetic refraction anomaly
is_a: MONDO:0020206 {source="Orphanet:98620"} ! rare refraction anomaly
intersection_of: MONDO:0001384 ! myopia (disease)
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227818
property_value: exactMatch Orphanet:98620

[Term]
id: MONDO:0020209
name: rare hyperopia and astigmatism
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98621"}
xref: Orphanet:98621 {source="MONDO:equivalentTo"}
xref: UMLS:CN227819 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015965 {source="Orphanet:98621"} ! rare genetic refraction anomaly
is_a: MONDO:0020206 {source="Orphanet:98621"} ! rare refraction anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227819
property_value: exactMatch Orphanet:98621
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020210
name: syndromic hyperopia
def: "A hyperopia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98622"}
synonym: "syndrome associated with hyperopia" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with hyperopia" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic hyperopia" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98622 {source="MONDO:equivalentTo"}
xref: UMLS:CN227820 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0004891 ! hyperopia
is_a: MONDO:0020209 {source="Orphanet:98622"} ! rare hyperopia and astigmatism
intersection_of: MONDO:0004891 ! hyperopia
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227820
property_value: exactMatch Orphanet:98622

[Term]
id: MONDO:0020211
name: syndromic keratoconus
def: "A keratoconus (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98623"}
synonym: "syndrome associated with keratoconus (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with keratoconus (disease)" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic keratoconus (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98623 {source="MONDO:equivalentTo"}
xref: UMLS:CN227821 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015486 {source="MONDO:Redundant", source="Orphanet:98623"} ! keratoconus (disease)
intersection_of: MONDO:0015486 ! keratoconus (disease)
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227821
property_value: exactMatch Orphanet:98623

[Term]
id: MONDO:0020212
name: superficial corneal dystrophy
def: "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98625]
subset: ordo_group_of_disorders {source="Orphanet:98625"}
synonym: "anterior corneal dystrophy" EXACT [Orphanet:98625]
synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location]
synonym: "dystrophy of anterior cornea" EXACT []
xref: ICD10:H18.5 {source="Orphanet:98625", source="ORDO:98625/attributed", source="ORDO:98625/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98625 {source="MONDO:equivalentTo"}
xref: SCTID:430888006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.34"}
xref: UMLS:C2315777 {source="MEDGEN:kboom-pr97-c98", source="ORDO:98625/e", source="MONDO:equivalentTo", source="Orphanet:98625"}
is_a: MONDO:0018102 {source="MONDO:Entailed", source="Orphanet:98625", source="linkedlifedata"} ! corneal dystrophy (disease)
property_value: exactMatch http://identifiers.org/snomedct/430888006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2315777
property_value: exactMatch Orphanet:98625

[Term]
id: MONDO:0020213
name: stromal corneal dystrophy
def: "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98626]
subset: ordo_group_of_disorders {source="Orphanet:98626"}
synonym: "corneal dystrophy (disease) of substantia propria of cornea" EXACT []
synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765]
synonym: "stromal dystrophy" RELATED [DOID:0060442]
synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location]
xref: DOID:0060442 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="ORDO:98626/attributed", source="ORDO:98626/ntbt", source="Orphanet:98626"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98626 {source="MONDO:equivalentTo"}
xref: SCTID:231931001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0038457 {source="ORDO:98626/e", source="MONDO:equivalentTo", source="Orphanet:98626"}
is_a: MONDO:0018102 {source="DOID:0060442", source="MONDO:Redundant", source="Orphanet:98626", source="linkedlifedata"} ! corneal dystrophy (disease)
property_value: exactMatch DOID:0060442
property_value: exactMatch http://identifiers.org/snomedct/231931001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038457
property_value: exactMatch Orphanet:98626

[Term]
id: MONDO:0020214
name: posterior corneal dystrophy
def: "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." [Orphanet:98627]
subset: ordo_group_of_disorders {source="Orphanet:98627"}
xref: ICD10:H18.5 {source="ORDO:98627/attributed", source="ORDO:98627/ntbt", source="Orphanet:98627"}
xref: ICD9:371.58 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98627 {source="MONDO:equivalentTo"}
xref: SCTID:35091000119101 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2063478 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN227822 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018102 {source="Orphanet:98627", source="linkedlifedata"} ! corneal dystrophy (disease)
property_value: exactMatch http://identifiers.org/snomedct/35091000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2063478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227822
property_value: exactMatch Orphanet:98627

[Term]
id: MONDO:0020215
name: syndromic corneal dystrophy
def: "A corneal dystrophy (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98628"}
synonym: "syndrome associated with corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with corneal dystrophy (disease)" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98628 {source="MONDO:equivalentTo"}
xref: UMLS:CN227823 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0018102 {source="MONDO:Redundant", source="Orphanet:98628"} ! corneal dystrophy (disease)
intersection_of: MONDO:0018102 ! corneal dystrophy (disease)
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227823
property_value: exactMatch Orphanet:98628

[Term]
id: MONDO:0020216
name: secondary dysgenetic glaucoma
def: "A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." [http://dx.doi.org/10.1155/2015/781294]
subset: ordo_group_of_disorders {source="Orphanet:98631"}
synonym: "secondary congenital glaucoma" RELATED [http://dx.doi.org/10.1155/2015/781294]
xref: Orphanet:98631 {source="MONDO:equivalentTo"}
is_a: MONDO:0018174 {source="Orphanet:98631"} ! hereditary glaucoma
property_value: exactMatch Orphanet:98631

[Term]
id: MONDO:0020217
name: secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
subset: ordo_group_of_disorders {source="Orphanet:98632"}
synonym: "glaucoma associated with neural crest cell migration anomaly" RELATED [Orphanet:98632]
xref: Orphanet:98632 {source="MONDO:equivalentTo"}
is_a: MONDO:0020216 {source="MONDO:Redundant", source="Orphanet:98632"} ! secondary dysgenetic glaucoma
is_a: MONDO:0021635 {source="MONDO:Redundant", source="MONDO:cjm"} ! neurocristopathy
property_value: exactMatch Orphanet:98632

[Term]
id: MONDO:0020218
name: goniodysgenesis
subset: ordo_group_of_disorders {source="Orphanet:98633"}
xref: Orphanet:98633 {source="MONDO:equivalentTo"}
xref: SCTID:251730004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0020217 {source="Orphanet:98633"} ! secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
property_value: exactMatch http://identifiers.org/snomedct/251730004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311237
property_value: exactMatch Orphanet:98633

[Term]
id: MONDO:0020219
name: corneogoniodysgenesis
subset: ordo_group_of_disorders {source="Orphanet:98635"}
xref: Orphanet:98635 {source="MONDO:equivalentTo"}
is_a: MONDO:0020217 {source="Orphanet:98635"} ! secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
property_value: exactMatch Orphanet:98635

[Term]
id: MONDO:0020220
name: corneoiridogoniodysgenesis
subset: ordo_group_of_disorders {source="Orphanet:98636"}
xref: Orphanet:98636 {source="MONDO:equivalentTo"}
is_a: MONDO:0020217 {source="Orphanet:98636"} ! secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
property_value: exactMatch Orphanet:98636

[Term]
id: MONDO:0020221
name: secondary glaucoma due to a proliferation and differentiation anomaly
subset: ordo_group_of_disorders {source="Orphanet:98637"}
xref: Orphanet:98637 {source="MONDO:equivalentTo"}
is_a: MONDO:0020216 {source="Orphanet:98637"} ! secondary dysgenetic glaucoma
property_value: exactMatch Orphanet:98637

[Term]
id: MONDO:0020222
name: rare disease with glaucoma as a major feature
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98638"}
xref: Orphanet:98638 {source="MONDO:equivalentTo"}
xref: UMLS:CN207054 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98638"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207054
property_value: exactMatch Orphanet:98638
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI

[Term]
id: MONDO:0020223
name: lens and zonula anomaly
subset: implicit_genetic_in_ordo
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98639"}
xref: Orphanet:98639 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 ! eye disease
relationship: excluded_subClassOf MONDO:0015107 {source="Orphanet:98639"} ! obsolete rare genetic eye disease
property_value: exactMatch Orphanet:98639

[Term]
id: MONDO:0020224
name: obsolete rare cataract
def: "Rare cataract." []
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98640"}
synonym: "rare cataract" EXACT []
synonym: "rare cataract (disease)" EXACT [MONDO:patterns/rare]
xref: Orphanet:98640 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:98640
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005129
consider: UMLS:C0086543 {source="Orphanet:98640"}

[Term]
id: MONDO:0020225
name: syndromic cataract
def: "A cataract (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98641"}
synonym: "syndrome associated with cataract (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with cataract (disease)" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic cataract (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98641 {source="MONDO:equivalentTo"}
xref: UMLS:CN227829 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0005129 {source="Orphanet:98641"} ! cataract (disease)
intersection_of: MONDO:0005129 ! cataract (disease)
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
relationship: has_modifier MONDO:0021136 {source="MONDO:0020224"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227829
property_value: exactMatch Orphanet:98641

[Term]
id: MONDO:0020226
name: chromosomal anomaly with cataract
subset: ordo_group_of_disorders {source="Orphanet:98642"}
xref: Orphanet:98642 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal anomaly
intersection_of: disease_has_major_feature MONDO:0005129 ! cataract (disease)
relationship: disease_has_major_feature MONDO:0005129 ! cataract (disease)
relationship: excluded_subClassOf MONDO:0020225 {source="Orphanet:98642"} ! syndromic cataract
property_value: exactMatch Orphanet:98642

[Term]
id: MONDO:0020227
name: systemic disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98643"}
xref: Orphanet:98643 {source="MONDO:equivalentTo"}
xref: UMLS:C0339369 {source="Orphanet:98643", source="MONDO:equivalentTo", source="ORDO:98643/e"}
is_a: MONDO:0015938 ! systemic disease
is_a: MONDO:0020225 {source="Orphanet:98643"} ! syndromic cataract
intersection_of: MONDO:0015938 ! systemic disease
intersection_of: disease_has_feature MONDO:0005129 ! cataract (disease)
relationship: disease_has_feature MONDO:0005129 ! cataract (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339369
property_value: exactMatch Orphanet:98643

[Term]
id: MONDO:0020228
name: cataract associated with a metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:98644"}
xref: Orphanet:98644 {source="MONDO:equivalentTo"}
xref: UMLS:CN207056 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020227 {source="Orphanet:98644"} ! systemic disease with cataract
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207056
property_value: exactMatch Orphanet:98644

[Term]
id: MONDO:0020229
name: cerebral disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98645"}
xref: Orphanet:98645 {source="MONDO:equivalentTo"}
xref: UMLS:CN207057 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="indirect"} ! nervous system disorder
is_a: MONDO:0020227 {source="Orphanet:98645"} ! systemic disease with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207057
property_value: exactMatch Orphanet:98645

[Term]
id: MONDO:0020230
name: renal disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98646"}
xref: Orphanet:98646 {source="MONDO:equivalentTo"}
xref: UMLS:CN207058 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 ! kidney disease
is_a: MONDO:0020227 {source="Orphanet:98646"} ! systemic disease with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207058
property_value: exactMatch Orphanet:98646

[Term]
id: MONDO:0020231
name: cardiac disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98647"}
xref: Orphanet:98647 {source="MONDO:equivalentTo"}
xref: UMLS:CN207059 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
is_a: MONDO:0020227 {source="Orphanet:98647"} ! systemic disease with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207059
property_value: exactMatch Orphanet:98647

[Term]
id: MONDO:0020232
name: musculoskeletal disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98648"}
xref: Orphanet:98648 {source="MONDO:equivalentTo"}
xref: UMLS:CN207060 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002081 ! musculoskeletal system disease
is_a: MONDO:0020227 {source="Orphanet:98648"} ! systemic disease with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207060
property_value: exactMatch Orphanet:98648

[Term]
id: MONDO:0020233
name: dentocutaneous disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98649"}
xref: Orphanet:98649 {source="MONDO:equivalentTo"}
xref: UMLS:CN207061 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020227 {source="Orphanet:98649"} ! systemic disease with cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207061
property_value: exactMatch Orphanet:98649

[Term]
id: MONDO:0020234
name: craniofacial anomaly with cataract
subset: ordo_group_of_disorders {source="Orphanet:98650"}
xref: Orphanet:98650 {source="MONDO:equivalentTo"}
is_a: MONDO:0020227 {source="Orphanet:98650"} ! systemic disease with cataract
property_value: exactMatch Orphanet:98650

[Term]
id: MONDO:0020235
name: lens size anomaly
subset: ordo_group_of_disorders {source="Orphanet:98652"}
xref: Orphanet:98652 {source="MONDO:equivalentTo"}
is_a: MONDO:0020223 {source="Orphanet:98652"} ! lens and zonula anomaly
property_value: exactMatch Orphanet:98652

[Term]
id: MONDO:0020236
name: lens position anomaly
def: "Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484]
comment: Editor note: consider obsoleting as is a phenotypic feature
subset: ordo_group_of_disorders {source="Orphanet:98653"}
synonym: "ectopia lentis" EXACT [NCIT:C125484]
xref: HP:0001083
xref: ICD10:Q12.1 {source="Orphanet:98653", source="ORDO:98653/attributed", source="ORDO:98653/ntbt"}
xref: NCIT:C125484 {source="MONDO:equivalentTo"}
xref: Orphanet:98653 {source="MONDO:equivalentTo"}
is_a: MONDO:0001176 {source="NCIT:C125484"} ! lens disease
is_a: MONDO:0020223 {source="Orphanet:98653"} ! lens and zonula anomaly
property_value: exactMatch NCIT:C125484
property_value: exactMatch Orphanet:98653

[Term]
id: MONDO:0020237
name: lens shape anomaly
subset: ordo_group_of_disorders {source="Orphanet:98655"}
xref: Orphanet:98655 {source="MONDO:equivalentTo"}
is_a: MONDO:0020223 {source="Orphanet:98655"} ! lens and zonula anomaly
property_value: exactMatch Orphanet:98655

[Term]
id: MONDO:0020238
name: inherited vitreous-retinal disease
subset: ordo_group_of_disorders {source="Orphanet:98657"}
synonym: "genetic vitreoretinal disease" EXACT [MONDO:cjm]
synonym: "genetic vitreous-retinal disease" EXACT [Orphanet:98657]
xref: Orphanet:98657 {source="MONDO:equivalentTo"}
xref: UMLS:CN207063 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005283 ! retinal disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0044137 ! vitreous body disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207063
property_value: exactMatch Orphanet:98657

[Term]
id: MONDO:0020239
name: obsolete color-vision disease
is_obsolete: true
replaced_by: MONDO:0001703

[Term]
id: MONDO:0020240
name: syndromic retinitis pigmentosa
def: "A retinitis pigmentosa that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98661"}
synonym: "syndrome associated with retinitis pigmentosa" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with retinitis pigmentosa" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic retinitis pigmentosa" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98661 {source="MONDO:equivalentTo"}
xref: UMLS:CN227834 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019200 ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227834
property_value: exactMatch Orphanet:98661

[Term]
id: MONDO:0020241
name: unclassified familial retinal dystrophy
subset: ordo_group_of_disorders {source="Orphanet:98662"}
xref: Orphanet:98662 {source="MONDO:equivalentTo"}
xref: UMLS:CN227835 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="Orphanet:98662"} ! inherited retinal dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227835
property_value: exactMatch Orphanet:98662

[Term]
id: MONDO:0020242
name: genetic macular dystrophy
def: "Macular dystrophy that is related to a change in a gene." [] {source="NCIT:C140264"}
subset: ordo_group_of_disorders {source="Orphanet:98664"}
synonym: "genetic macular dystrophy" EXACT []
synonym: "genetic macular dystrophy (disease)" EXACT [MONDO:patterns/genetic]
xref: DC:0000263 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="Orphanet:98664", source="ORDO:98664/attributed", source="ORDO:98664/ntbt", source="MONDO:directSiblingOf"}
xref: NCIT:C140264 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:98664 {source="MONDO:equivalentTo"}
xref: SCTID:276436007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/6.88"}
is_a: MONDO:0019118 {source="MONDO:Redundant", source="NCIT:C140264", source="Orphanet:98664", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy
property_value: exactMatch http://identifiers.org/snomedct/276436007
property_value: exactMatch NCIT:C140264
property_value: exactMatch Orphanet:98664

[Term]
id: MONDO:0020243
name: colobomatous and areolar dystrophy
subset: ordo_group_of_disorders {source="Orphanet:98665"}
xref: Orphanet:98665 {source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="Orphanet:98665"} ! genetic macular dystrophy
property_value: exactMatch Orphanet:98665

[Term]
id: MONDO:0020244
name: unclassified primitive or secondary maculopathy
subset: ordo_group_of_disorders {source="Orphanet:98666"}
xref: Orphanet:98666 {source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="Orphanet:98666"} ! genetic macular dystrophy
property_value: exactMatch Orphanet:98666

[Term]
id: MONDO:0020245
name: disease predisposing to age-related macular degeneration
subset: ordo_group_of_disorders {source="Orphanet:98667"}
xref: Orphanet:98667 {source="MONDO:equivalentTo"}
xref: UMLS:CN207066 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020238 {source="Orphanet:98667"} ! inherited vitreous-retinal disease
relationship: disease_has_feature MONDO:0005150 ! age-related macular degeneration
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207066
property_value: exactMatch Orphanet:98667

[Term]
id: MONDO:0020246
name: inherited vitreoretinopathy
subset: ordo_group_of_disorders {source="Orphanet:98668"}
xref: HP:0007773
xref: Orphanet:98668 {source="MONDO:equivalentTo"}
xref: UMLS:C1850109 {source="MONDO:equivalentTo"}
is_a: MONDO:0020238 {source="Orphanet:98668"} ! inherited vitreous-retinal disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850109
property_value: exactMatch Orphanet:98668

[Term]
id: MONDO:0020247
name: congenital vitreoretinal dysplasia
subset: ordo_group_of_disorders {source="Orphanet:98669"}
synonym: "vitreoretinal dysplasia" EXACT []
xref: ICD10:Q14.1 {source="Orphanet:98669", source="ORDO:98669/attributed", source="ORDO:98669/ntbt"}
xref: ICD9:743.56 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98669 {source="MONDO:equivalentTo"}
xref: SCTID:449866003 {source="MONDO:equivalentTo"}
is_a: MONDO:0020246 {source="Orphanet:98669"} ! inherited vitreoretinopathy
property_value: exactMatch http://identifiers.org/snomedct/449866003
property_value: exactMatch Orphanet:98669

[Term]
id: MONDO:0020248
name: vitreoretinal degeneration
subset: gard_rare {source="GARD:0005506"}
subset: ordo_group_of_disorders {source="Orphanet:98670"}
synonym: "degenerative vitreoretinopathy" EXACT [HP:0007964]
xref: GARD:0005506 {source="MONDO:equivalentTo"}
xref: HP:0007964
xref: ICD10:H35.5 {source="ORDO:98670/inclusion", source="MONDO:relatedTo", source="ORDO:98670/ntbt", source="Orphanet:98670"}
xref: Orphanet:98670 {source="MONDO:equivalentTo"}
xref: SCTID:247182006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.33"}
xref: UMLS:C0344290 {source="MONDO:equivalentTo", source="ORDO:98670/e", source="Orphanet:98670"}
is_a: MONDO:0001377 {source="linkedlifedata"} ! vitreous syneresis
is_a: MONDO:0020246 {source="Orphanet:98670"} ! inherited vitreoretinopathy
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/247182006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344290
property_value: exactMatch Orphanet:98670
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration xsd:anyURI {source="GARD:0005506"}

[Term]
id: MONDO:0020249
name: hereditary optic neuropathy
subset: ordo_group_of_disorders {source="Orphanet:98671"}
xref: MedDRA:10061323 {source="ORDO:98671/e", source="Orphanet:98671"}
xref: Orphanet:98671 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98671"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://identifiers.org/meddra/10061323
property_value: exactMatch Orphanet:98671

[Term]
id: MONDO:0020250
name: autosomal dominant optic atrophy
def: "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." [NCIT:C84577]
subset: ordo_group_of_disorders {source="Orphanet:98672"}
synonym: "ADOA" EXACT [Orphanet:98672]
synonym: "DOA" EXACT [Orphanet:98672]
synonym: "dominant optic atrophy" RELATED [GARD:0011972]
synonym: "optic atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:0011972 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:H47.2 {source="MONDO:subClassOf", source="ORDO:98672/attributed", source="ORDO:98672/ntbt", source="Orphanet:98672"}
xref: MESH:D029241 {source="MONDO:equivalentTo", source="ORDO:98672/e", source="Orphanet:98672"}
xref: NCIT:C84577 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:98672 {source="MONDO:equivalentTo"}
xref: SCTID:2065009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.30"}
xref: UMLS:C0338508 {source="MONDO:equivalentTo", source="ORDO:98672/e", source="NCIT:C84577", source="Orphanet:98672"}
is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0020249 {source="Orphanet:98672", source="Orphanet:98672/inferred"} ! hereditary optic neuropathy
is_a: MONDO:0043878 {source="MESH:D029241", source="MONDO:Redundant", source="NCIT:C84577", source="linkedlifedata"} ! hereditary optic atrophy
property_value: exactMatch http://identifiers.org/mesh/D029241
property_value: exactMatch http://identifiers.org/snomedct/2065009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0338508
property_value: exactMatch NCIT:C84577
property_value: exactMatch Orphanet:98672

[Term]
id: MONDO:0020251
name: rare strabismus and restriction syndrome
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:98681"}
xref: Orphanet:98681 {source="MONDO:equivalentTo"}
xref: UMLS:CN207070 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020261 ! neurological disease with abnormal eye movements
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207070
property_value: exactMatch Orphanet:98681
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020252
name: essential strabismus
subset: ordo_disease {source="Orphanet:98682"}
xref: Orphanet:98682 {source="MONDO:equivalentTo"}
is_a: MONDO:0020251 {source="Orphanet:98682"} ! rare strabismus and restriction syndrome
property_value: exactMatch Orphanet:98682

[Term]
id: MONDO:0020253
name: syndrome with a symptomatic strabismus
subset: ordo_group_of_disorders {source="Orphanet:98683"}
xref: Orphanet:98683 {source="MONDO:equivalentTo"}
xref: UMLS:CN207072 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020251 {source="Orphanet:98683"} ! rare strabismus and restriction syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207072
property_value: exactMatch Orphanet:98683

[Term]
id: MONDO:0020254
name: craniostenosis associated with a strabismus
subset: ordo_group_of_disorders {source="Orphanet:98684"}
xref: Orphanet:98684 {source="MONDO:equivalentTo"}
is_a: MONDO:0020253 {source="Orphanet:98684"} ! syndrome with a symptomatic strabismus
property_value: exactMatch Orphanet:98684

[Term]
id: MONDO:0020255
name: obsolete oculomotor palsy
is_obsolete: true
replaced_by: MONDO:0001309

[Term]
id: MONDO:0020256
name: congenital trochlear nerve palsy
subset: ordo_disease {source="Orphanet:98686"}
synonym: "congenital CNIV palsy" EXACT [Orphanet:98686]
synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686]
synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686]
xref: ICD10:H49.1 {source="Orphanet:98686", source="ORDO:98686/attributed", source="ORDO:98686/ntbt"}
xref: Orphanet:98686 {source="MONDO:equivalentTo"}
is_a: MONDO:0001146 {source="MONDO:cjm", source="MONDOLEX:0020256"} ! fourth cranial nerve palsy
relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686"} ! nuclear oculomotor paralysis
property_value: exactMatch Orphanet:98686

[Term]
id: MONDO:0020257
name: supranuclear oculomotor palsy
def: "oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." [https://doi.org/10.1111/j.1468-1331.2009.02779.x, MONDO:cjm]
comment: Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:98687"}
synonym: "conjugate gaze palsy" RELATED [GARD:0008403]
synonym: "gaze palsy" RELATED [GARD:0008403]
synonym: "supranuclear disorder of eye movement" RELATED [PMID:2669857]
synonym: "supranuclear ocular palsy" RELATED [GARD:0008403]
xref: GARD:0008403 {source="MONDO:equivalentTo"}
xref: Orphanet:98687 {source="MONDO:equivalentTo"}
is_a: MONDO:0001309 {source="MONDOLEX:0020257", source="Orphanet:98687"} ! oculomotor nerve paralysis
property_value: exactMatch Orphanet:98687

[Term]
id: MONDO:0020258
name: oculomotor apraxia or related oculomotor disease
subset: ordo_group_of_disorders {source="Orphanet:98688"}
xref: Orphanet:98688 {source="MONDO:equivalentTo"}
xref: UMLS:CN207073 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015368 {source="Orphanet:98688"} ! neuro-ophthalmological disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207073
property_value: exactMatch Orphanet:98688

[Term]
id: MONDO:0020259
name: myopathy with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98689"}
xref: Orphanet:98689 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 ! myopathy
is_a: MONDO:0015368 {source="Orphanet:98689"} ! neuro-ophthalmological disease
property_value: exactMatch Orphanet:98689

[Term]
id: MONDO:0020260
name: obsolete myasthenic syndrome with eye involvement
comment: See https://github.com/Orphanet/ORDO/issues/17
subset: ordo_group_of_disorders {source="Orphanet:98690"}
xref: Orphanet:98690 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN207074 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207074
property_value: exactMatch Orphanet:98690
is_obsolete: true

[Term]
id: MONDO:0020261
name: neurological disease with abnormal eye movements
subset: ordo_group_of_disorders {source="Orphanet:98691"}
synonym: "abnormal eye movements" EXACT [Orphanet:98691]
xref: Orphanet:98691 {source="MONDO:equivalentTo"}
is_a: MONDO:0015368 {source="MONDO:Redundant", source="Orphanet:98691"} ! neuro-ophthalmological disease
property_value: exactMatch Orphanet:98691

[Term]
id: MONDO:0020262
name: nervous system anomaly with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98692"}
xref: Orphanet:98692 {source="MONDO:equivalentTo"}
is_a: MONDO:0015368 {source="Orphanet:98692"} ! neuro-ophthalmological disease
property_value: exactMatch Orphanet:98692

[Term]
id: MONDO:0020263
name: spinocerebellar ataxia with oculomotor anomaly
subset: ordo_group_of_disorders {source="Orphanet:98693"}
xref: Orphanet:98693 {source="MONDO:equivalentTo"}
is_a: MONDO:0020262 {source="Orphanet:98693"} ! nervous system anomaly with eye involvement
property_value: exactMatch Orphanet:98693

[Term]
id: MONDO:0020264
name: spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
subset: ordo_group_of_disorders {source="Orphanet:98694"}
xref: Orphanet:98694 {source="MONDO:equivalentTo"}
is_a: MONDO:0020262 {source="Orphanet:98694"} ! nervous system anomaly with eye involvement
property_value: exactMatch Orphanet:98694

[Term]
id: MONDO:0020265
name: mitochondrial disease with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98695"}
xref: Orphanet:98695 {source="MONDO:equivalentTo"}
xref: UMLS:CN207076 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020278 {source="Orphanet:98695"} ! metabolic disease associated with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207076
property_value: exactMatch Orphanet:98695

[Term]
id: MONDO:0020266
name: genodermatosis with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98696"}
xref: Orphanet:98696 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98696"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch Orphanet:98696

[Term]
id: MONDO:0020267
name: genetic keratinization disorder associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98697"}
xref: Orphanet:98697 {source="MONDO:equivalentTo"}
xref: UMLS:CN227842 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:98697"} ! genodermatosis with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227842
property_value: exactMatch Orphanet:98697

[Term]
id: MONDO:0020268
name: ichthyosis associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98698"}
xref: Orphanet:98698 {source="MONDO:equivalentTo"}
is_a: MONDO:0020267 {source="Orphanet:98698"} ! genetic keratinization disorder associated with ocular features
property_value: exactMatch Orphanet:98698

[Term]
id: MONDO:0020269
name: syndromic ichthyosis associated with ocular features
def: "A ichthyosis associated with ocular features that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98699"}
synonym: "syndrome associated with ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic]
synonym: "syndrome associated with ichthyosis associated with ocular features" RELATED [MONDO:patterns/syndromic]
synonym: "syndromic ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98699 {source="MONDO:equivalentTo"}
xref: UMLS:CN227843 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0020268 ! ichthyosis associated with ocular features
intersection_of: MONDO:0020268 ! ichthyosis associated with ocular features
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227843
property_value: exactMatch Orphanet:98699

[Term]
id: MONDO:0020270
name: pigmentation disorder with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98700"}
xref: Orphanet:98700 {source="MONDO:equivalentTo"}
xref: UMLS:CN227844 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:98700"} ! genodermatosis with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227844
property_value: exactMatch Orphanet:98700

[Term]
id: MONDO:0020271
name: phakomatosis with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98701"}
xref: Orphanet:98701 {source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:98701"} ! genodermatosis with ocular features
is_a: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome
property_value: exactMatch Orphanet:98701

[Term]
id: MONDO:0020272
name: connective tissue disease with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98702"}
xref: Orphanet:98702 {source="MONDO:equivalentTo"}
xref: UMLS:CN207077 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005328 {source="Orphanet:98702"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207077
property_value: exactMatch Orphanet:98702

[Term]
id: MONDO:0020273
name: disease with potential neoplastic degeneration associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98703"}
xref: Orphanet:98703 {source="MONDO:equivalentTo"}
xref: UMLS:CN207078 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:98703"} ! genodermatosis with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207078
property_value: exactMatch Orphanet:98703

[Term]
id: MONDO:0020274
name: onycho-patellar syndrome with eye involvement
subset: ordo_group_of_disorders {source="Orphanet:98704"}
xref: Orphanet:98704 {source="MONDO:equivalentTo"}
xref: UMLS:CN207079 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020266 {source="Orphanet:98704"} ! genodermatosis with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207079
property_value: exactMatch Orphanet:98704

[Term]
id: MONDO:0020275
name: oculocutaneous or ocular albinism
def: "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [https://en.wikipedia.org/wiki/Albinism, MONDO:cjm]
subset: ordo_group_of_disorders {source="Orphanet:98706"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:98706/e", source="Orphanet:98706", source="ORDO:98706/specific"}
xref: Orphanet:98706 {source="MONDO:equivalentTo"}
is_a: MONDO:0020270 {source="Orphanet:98706"} ! pigmentation disorder with eye involvement
is_a: MONDO:0043209 {source="MONDO:cjm"} ! albinism
disjoint_from: MONDO:0020276 ! pigmentation disorder with eye involvement, excluding albinism
property_value: exactMatch Orphanet:98706

[Term]
id: MONDO:0020276
name: pigmentation disorder with eye involvement, excluding albinism
subset: ordo_group_of_disorders {source="Orphanet:98708"}
xref: Orphanet:98708 {source="MONDO:equivalentTo"}
xref: UMLS:CN227845 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020270 {source="Orphanet:98708"} ! pigmentation disorder with eye involvement
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227845
property_value: exactMatch Orphanet:98708

[Term]
id: MONDO:0020277
name: ectodermal malformation syndrome associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98709"}
xref: Orphanet:98709 {source="MONDO:equivalentTo"}
xref: UMLS:CN207080 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98709"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207080
property_value: exactMatch Orphanet:98709

[Term]
id: MONDO:0020278
name: metabolic disease associated with ocular features
subset: ordo_group_of_disorders {source="Orphanet:98710"}
xref: Orphanet:98710 {source="MONDO:equivalentTo"}
xref: UMLS:CN207081 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98710"} ! eye disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207081
property_value: exactMatch Orphanet:98710

[Term]
id: MONDO:0020279
name: metabolic disease with corneal opacity
subset: ordo_group_of_disorders {source="Orphanet:98711"}
xref: Orphanet:98711 {source="MONDO:equivalentTo"}
xref: UMLS:CN207082 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020278 {source="Orphanet:98711"} ! metabolic disease associated with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207082
property_value: exactMatch Orphanet:98711

[Term]
id: MONDO:0020280
name: metabolic disease with cataract
subset: ordo_group_of_disorders {source="Orphanet:98712"}
xref: Orphanet:98712 {source="MONDO:equivalentTo"}
xref: UMLS:CN207083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020278 {source="Orphanet:98712"} ! metabolic disease associated with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207083
property_value: exactMatch Orphanet:98712

[Term]
id: MONDO:0020281
name: metabolic disease with pigmentary retinitis
subset: ordo_group_of_disorders {source="Orphanet:98713"}
xref: Orphanet:98713 {source="MONDO:equivalentTo"}
xref: UMLS:CN207084 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020278 {source="Orphanet:98713"} ! metabolic disease associated with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207084
property_value: exactMatch Orphanet:98713

[Term]
id: MONDO:0020282
name: metabolic disease with macular cherry-red spot
subset: ordo_group_of_disorders {source="Orphanet:98714"}
xref: Orphanet:98714 {source="MONDO:equivalentTo"}
xref: UMLS:CN207085 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020278 {source="Orphanet:98714"} ! metabolic disease associated with ocular features
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207085
property_value: exactMatch Orphanet:98714

[Term]
id: MONDO:0020283
name: uveitis (disease)
def: "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." [NCIT:C26909]
subset: ordo_group_of_disorders {source="Orphanet:98715"}
synonym: "inflammation of uvea" EXACT []
synonym: "uvea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "uveitis" EXACT [MONDO:ambiguous]
xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"}
xref: EFO:1001231 {source="MONDO:equivalentTo"}
xref: HP:0000554 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:H20.9 {source="DOID:13141"}
xref: MedDRA:10046851 {source="EFO:1001231", source="ORDO:98715/e", source="Orphanet:98715"}
xref: MESH:D014605 {source="EFO:1001231", source="ORDO:98715/e", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="MONDO:ontobio"}
xref: NCIT:C26909 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"}
xref: Orphanet:98715 {source="MONDO:equivalentTo"}
xref: SCTID:128473001 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0042164 {source="ORDO:98715/e", source="NCIT:C26909", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715"}
is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Redundant", source="NCIT:C26909/inferred", source="linkedlifedata"} ! uveal disease
is_a: MONDO:0015937 {source="Orphanet:98715"} ! rare inflammatory eye disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/155116005
property_value: closeMatch http://identifiers.org/snomedct/193499001
property_value: closeMatch http://identifiers.org/snomedct/267719008
property_value: exactMatch DOID:13141
property_value: exactMatch http://identifiers.org/meddra/10046851
property_value: exactMatch http://identifiers.org/mesh/D014605
property_value: exactMatch http://identifiers.org/snomedct/128473001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042164
property_value: exactMatch NCIT:C26909
property_value: exactMatch Orphanet:98715

[Term]
id: MONDO:0020284
name: heart position anomaly
subset: ordo_group_of_disorders {source="Orphanet:98716"}
xref: Orphanet:98716 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:98716"} ! congenital heart malformation
property_value: exactMatch Orphanet:98716

[Term]
id: MONDO:0020285
name: transposition of the great arteries and conotruncal cardiac anomaly
subset: ordo_group_of_disorders {source="Orphanet:98717"}
xref: Orphanet:98717 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:98717"} ! congenital heart malformation
property_value: exactMatch Orphanet:98717

[Term]
id: MONDO:0020286
name: aortic malformation
subset: ordo_group_of_disorders {source="Orphanet:98718"}
xref: Orphanet:98718 {source="MONDO:equivalentTo"}
is_a: MONDO:0005561 ! aortic disease
is_a: MONDO:0020285 {source="Orphanet:98718"} ! transposition of the great arteries and conotruncal cardiac anomaly
is_a: MONDO:0020292 {source="Orphanet:98718"} ! congenital anomaly of the great arteries
property_value: exactMatch Orphanet:98718

[Term]
id: MONDO:0020287
name: pulmonary artery or pulmonary branch anomaly
subset: ordo_group_of_disorders {source="Orphanet:98719"}
xref: Orphanet:98719 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0020285 {source="Orphanet:98719"} ! transposition of the great arteries and conotruncal cardiac anomaly
is_a: MONDO:0020292 {source="Orphanet:98719"} ! congenital anomaly of the great arteries
property_value: exactMatch Orphanet:98719

[Term]
id: MONDO:0020288
name: atrioventricular valve anomaly
subset: ordo_group_of_disorders {source="Orphanet:98720"}
xref: Orphanet:98720 {source="MONDO:equivalentTo"}
is_a: MONDO:0002869 ! heart valve disease
is_a: MONDO:0019512 {source="Orphanet:98720"} ! congenital heart malformation
property_value: exactMatch Orphanet:98720

[Term]
id: MONDO:0020289
name: congenital tricuspid malformation
subset: ordo_group_of_disorders {source="Orphanet:98721"}
xref: HP:0001702 {source="MONDO:otherHierarchy"}
xref: ICD10:Q22.4 {source="Orphanet:98721", source="MONDO:superClassOf", source="ORDO:98721/btnt"}
xref: ICD10:Q22.5 {source="Orphanet:98721", source="ORDO:98721/btnt"}
xref: ICD10:Q22.8 {source="Orphanet:98721", source="ORDO:98721/btnt"}
xref: ICD10:Q22.9 {source="Orphanet:98721", source="ORDO:98721/btnt"}
xref: Orphanet:98721 {source="MONDO:equivalentTo"}
is_a: MONDO:0000471 ! tricuspid valve disease
is_a: MONDO:0020288 {source="MONDO:Redundant", source="Orphanet:98721"} ! atrioventricular valve anomaly
property_value: exactMatch Orphanet:98721

[Term]
id: MONDO:0020290
name: atrioventricular septal defect
def: "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:98722"}
synonym: "atrioventricular canal defect" EXACT [DOID:0050651]
synonym: "atrioventricular septal defect" EXACT [Orphanet:98722]
synonym: "AV septal defect" EXACT [NCIT:C101029]
synonym: "AVCD" EXACT [DOID:0050651]
synonym: "AVSD" EXACT [DOID:0050651, Orphanet:98722]
synonym: "common atrioventricular canal" EXACT [NCIT:C101029]
synonym: "common AV canal" EXACT [NCIT:C101029]
synonym: "ECD" EXACT [DOID:0050651]
synonym: "endocardial cushion defect" EXACT [DOID:0050651]
xref: DOID:0050651 {source="MONDO:equivalentTo"}
xref: GARD:0000802 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.2 {source="ORDO:98722/e", source="DOID:0050651", source="Orphanet:98722"}
xref: ICD9:745.6 {source="DOID:0050651"}
xref: ICD9:745.60 {source="DOID:0050651", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:745.69 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C101029 {source="MONDO:equivalentTo"}
xref: OMIMPS:606215 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:98722 {source="DOID:0050651", source="MONDO:equivalentTo"}
xref: SCTID:15459006 {source="MONDO:kboom-pr-0.90/0.78/0.21", source="DOID:0050651", source="MONDO:equivalentTo"}
is_a: MONDO:0002078 {source="DOID:0050651", source="NCIT:C101029", source="linkedlifedata/inferred"} ! heart septal defect
is_a: MONDO:0020288 {source="Orphanet:98722"} ! atrioventricular valve anomaly
property_value: closeMatch http://identifiers.org/mesh/D004694
property_value: closeMatch http://identifiers.org/snomedct/204322008
property_value: closeMatch http://identifiers.org/snomedct/204323003
property_value: closeMatch http://identifiers.org/snomedct/204326006
property_value: closeMatch http://identifiers.org/snomedct/204331008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014116
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344783
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1389016
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1389018
property_value: exactMatch DOID:0050651
property_value: exactMatch http://identifiers.org/snomedct/15459006
property_value: exactMatch NCIT:C101029
property_value: exactMatch Orphanet:98722

[Term]
id: MONDO:0020291
name: hypoplastic right heart syndrome
def: "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation (see this term) caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia (see these terms)." [Orphanet:98723]
subset: gard_rare {source="GARD:0002922"}
subset: ordo_group_of_disorders {source="Orphanet:98723"}
synonym: "right hypoplastic heart syndrome" EXACT [NCIT:C99053]
xref: COHD:4145158 {source="MONDO:equivalentTo"}
xref: DOID:0070315 {source="MONDO:equivalentTo"}
xref: GARD:0002922 {source="MONDO:equivalentTo"}
xref: ICD10:Q22.6 {source="ORDO:98723/e", source="Orphanet:98723", source="MONDO:equivalentTo"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10050053 {source="ORDO:98723/e", source="Orphanet:98723"}
xref: MedDRA:10064962 {source="ORDO:98723/e", source="Orphanet:98723"}
xref: NCIT:C99053 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:98723 {source="MONDO:equivalentTo"}
xref: SCTID:268180007 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"}
xref: UMLS:C0344963 {source="ORDO:98723/e", source="Orphanet:98723", source="NCIT:C99053", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0020291", source="NCIT:C99053"} ! syndromic disease
is_a: MONDO:0019820 {source="Orphanet:98723"} ! univentricular cardiopathy
property_value: exactMatch DOID:0070315
property_value: exactMatch http://identifiers.org/meddra/10050053
property_value: exactMatch http://identifiers.org/meddra/10064962
property_value: exactMatch http://identifiers.org/snomedct/268180007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265856
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344963
property_value: exactMatch NCIT:C99053
property_value: exactMatch Orphanet:98723
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome xsd:anyURI {source="GARD:0002922"}

[Term]
id: MONDO:0020292
name: congenital anomaly of the great arteries
subset: ordo_group_of_disorders {source="Orphanet:98724"}
synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724]
xref: MedDRA:10061080 {source="ORDO:98724/e", source="Orphanet:98724"}
xref: Orphanet:98724 {source="MONDO:equivalentTo"}
is_a: MONDO:0018723 {source="Orphanet:98724"} ! rare vascular malformation of major vessels
is_a: MONDO:0019512 {source="Orphanet:98724"} ! congenital heart malformation
property_value: exactMatch http://identifiers.org/meddra/10061080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948632
property_value: exactMatch Orphanet:98724

[Term]
id: MONDO:0020293
name: ascending aorta anomaly
subset: ordo_group_of_disorders {source="Orphanet:98725"}
xref: ICD10:Q25.4 {source="ORDO:98725/ntbt", source="Orphanet:98725"}
xref: Orphanet:98725 {source="MONDO:equivalentTo"}
is_a: MONDO:0020292 {source="Orphanet:98725"} ! congenital anomaly of the great arteries
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345043
property_value: exactMatch Orphanet:98725

[Term]
id: MONDO:0020294
name: atrial defect and interatrial communication
subset: ordo_group_of_disorders {source="Orphanet:98727"}
synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727]
synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727]
xref: ICD10:Q21.1 {source="ORDO:98727/ntbt", source="Orphanet:98727"}
xref: Orphanet:98727 {source="MONDO:equivalentTo"}
is_a: MONDO:0019512 {source="Orphanet:98727"} ! congenital heart malformation
property_value: exactMatch Orphanet:98727

[Term]
id: MONDO:0020295
name: congenital pulmonary veins anomaly
def: "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." [NCIT:C110942]
subset: ordo_group_of_disorders {source="Orphanet:98729"}
synonym: "congenital anomaly of pulmonary veins" EXACT []
synonym: "pulmonary vein abnormality" RELATED []
xref: NCIT:C110942 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"}
xref: Orphanet:98729 {source="MONDO:equivalentTo"}
xref: SCTID:111322000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.67"}
is_a: MONDO:0005453 {source="NCIT:C110942"} ! congenital heart disease
is_a: MONDO:0018185 {source="Orphanet:98729"} ! congenital anomaly of the great veins
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265914
property_value: exactMatch http://identifiers.org/snomedct/111322000
property_value: exactMatch NCIT:C110942
property_value: exactMatch Orphanet:98729

[Term]
id: MONDO:0020296
name: congenital arteriovenous fistula
def: "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." [NCIT:C35377]
subset: ordo_group_of_disorders {source="Orphanet:98731"}
xref: MedDRA:10003226 {source="Orphanet:98731", source="ORDO:98731/e"}
xref: MESH:D001164 {source="Orphanet:98731", source="MONDO:equivalentTo", source="ORDO:98731/e"}
xref: NCIT:C35377 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:98731 {source="MONDO:equivalentTo"}
xref: SCTID:234148007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016230 {source="Orphanet:98731"} ! simple vascular malformation
is_a: MONDO:0024239 {source="NCIT:C35377", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0332965
property_value: exactMatch http://identifiers.org/meddra/10003226
property_value: exactMatch http://identifiers.org/mesh/D001164
property_value: exactMatch http://identifiers.org/snomedct/234148007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003855
property_value: exactMatch NCIT:C35377
property_value: exactMatch Orphanet:98731

[Term]
id: MONDO:0020297
name: Noonan syndrome and Noonan-related syndrome
subset: ordo_group_of_disorders {source="Orphanet:98733"}
xref: MESH:C537846 {source="MONDO:relatedTo", source="MONDO:equivalentTo"}
xref: Orphanet:98733 {source="MONDO:equivalentTo"}
xref: UMLS:CN166718 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015329 {source="Orphanet:98733"} ! malformation syndrome with short stature
is_a: MONDO:0016329 {source="Orphanet:98733"} ! familial syndrome associated with hypertrophic cardiomyopathy
is_a: MONDO:0021060 {source="Orphanet:98733", source="https://github.com/monarch-initiative/mondo/issues/606"} ! RASopathy
property_value: exactMatch http://identifiers.org/mesh/C537846
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN166718
property_value: exactMatch Orphanet:98733

[Term]
id: MONDO:0020298
name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
subset: ordo_etiological_subtype {source="Orphanet:98754"}
synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754]
synonym: "UPD(15)mat" EXACT [Orphanet:98754]
xref: ICD10:Q87.1 {source="Orphanet:98754", source="ORDO:98754/attributed", source="ORDO:98754/ntbt"}
xref: Orphanet:98754 {source="MONDO:equivalentTo"}
xref: UMLS:CN207093 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008300 {source="Orphanet:98754"} ! Prader-Willi syndrome
is_a: MONDO:0020056 {source="Orphanet:98754"} ! uniparental disomy of maternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207093
property_value: exactMatch Orphanet:98754

[Term]
id: MONDO:0020299
name: obsolete spinocerebellar ataxia type 15/16
is_obsolete: true
replaced_by: MONDO:0011694

[Term]
id: MONDO:0020300
name: autosomal dominant nocturnal frontal lobe epilepsy
def: "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." [Orphanet:98784]
subset: ordo_disease {source="Orphanet:98784"}
synonym: "ADNFLE" EXACT [Orphanet:98784]
synonym: "ENFL" EXACT [DOID:0060681]
xref: DOID:0060681 {source="MONDO:equivalentTo"}
xref: GARD:0011918 {source="MONDO:equivalentTo"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C579932 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"}
xref: SCTID:698021005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3696898 {source="Orphanet:98784", source="MONDO:equivalentTo"}
is_a: MONDO:0002612 {source="DOID:0060681", source="MESH:C579932", source="linkedlifedata"} ! frontal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:98784"} ! familial partial epilepsy
property_value: exactMatch DOID:0060681
property_value: exactMatch http://identifiers.org/mesh/C579932
property_value: exactMatch http://identifiers.org/snomedct/698021005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3696898
property_value: exactMatch Orphanet:98784

[Term]
id: MONDO:0020301
name: Prader-Willi syndrome due to paternal 15q11q13 deletion
subset: ordo_etiological_subtype {source="Orphanet:98793"}
xref: ICD10:Q87.1 {source="ORDO:98793/attributed", source="ORDO:98793/ntbt", source="Orphanet:98793"}
xref: Orphanet:98793 {source="MONDO:equivalentTo"}
xref: UMLS:CN207115 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008300 {source="Orphanet:98793"} ! Prader-Willi syndrome
is_a: MONDO:0016913 {source="Orphanet:98793"} ! partial deletion of the long arm of chromosome 15
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207115
property_value: exactMatch Orphanet:98793

[Term]
id: MONDO:0020302
name: Angelman syndrome due to maternal 15q11q13 deletion
subset: ordo_etiological_subtype {source="Orphanet:98794"}
synonym: "Angelman syndrome due to maternal monosomy 15q11q13" EXACT [Orphanet:98794]
xref: ICD10:Q93.5 {source="ORDO:98794/attributed", source="ORDO:98794/ntbt", source="Orphanet:98794"}
xref: Orphanet:98794 {source="MONDO:equivalentTo"}
xref: UMLS:CN207116 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007113 {source="Orphanet:98794"} ! Angelman syndrome
is_a: MONDO:0016913 {source="Orphanet:98794"} ! partial deletion of the long arm of chromosome 15
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207116
property_value: exactMatch Orphanet:98794

[Term]
id: MONDO:0020303
name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
subset: ordo_etiological_subtype {source="Orphanet:98795"}
synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795]
synonym: "UPD(15)pat" EXACT [Orphanet:98795]
xref: ICD10:Q93.5 {source="Orphanet:98795", source="ORDO:98795/attributed", source="ORDO:98795/ntbt"}
xref: Orphanet:98795 {source="MONDO:equivalentTo"}
xref: UMLS:CN207117 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007113 {source="Orphanet:98795"} ! Angelman syndrome
is_a: MONDO:0020057 {source="Orphanet:98795"} ! uniparental disomy of paternal origin
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207117
property_value: exactMatch Orphanet:98795

[Term]
id: MONDO:0020304
name: isochromosomy Yp
def: "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." [Orphanet:98797]
subset: ordo_malformation_syndrome {source="Orphanet:98797"}
xref: ICD10:Q98.6 {source="Orphanet:98797", source="ORDO:98797/attributed", source="ORDO:98797/ntbt"}
xref: Orphanet:98797 {source="MONDO:equivalentTo"}
xref: SCTID:766708008 {source="MONDO:equivalentTo"}
is_a: MONDO:0019935 {source="Orphanet:98797"} ! isochromosome Y
property_value: exactMatch http://identifiers.org/snomedct/766708008
property_value: exactMatch Orphanet:98797

[Term]
id: MONDO:0020305
name: isochromosomy Yq
def: "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." [Orphanet:98798]
subset: ordo_malformation_syndrome {source="Orphanet:98798"}
xref: ICD10:Q98.6 {source="Orphanet:98798", source="ORDO:98798/attributed", source="ORDO:98798/ntbt"}
xref: Orphanet:98798 {source="MONDO:equivalentTo"}
is_a: MONDO:0019935 {source="Orphanet:98798"} ! isochromosome Y
property_value: exactMatch Orphanet:98798

[Term]
id: MONDO:0020306
name: absent tibia-polydactyly syndrome
def: "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." [Orphanet:988]
subset: ordo_malformation_syndrome {source="Orphanet:988"}
synonym: "absence of tibia with polydactyly" RELATED [GARD:0008309]
synonym: "polydactyly with absent tibia" RELATED [GARD:0008309]
synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [Orphanet:988]
xref: GARD:0008309 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q87.2 {source="Orphanet:988", source="ORDO:988/attributed", source="ORDO:988/ntbt"}
xref: MESH:C535564 {source="ORDO:988/e", source="Orphanet:988", source="MONDO:equivalentTo"}
xref: Orphanet:988 {source="MONDO:equivalentTo"}
xref: UMLS:C1861099 {source="MEDGEN:kboom-pr98-c99", source="ORDO:988/e", source="Orphanet:988", source="MONDO:equivalentTo"}
is_a: MONDO:0008572 ! tibia, hypoplasia or aplasia of, with polydactyly
is_a: MONDO:0017432 {source="Orphanet:988"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:988", source="Orphanet:988/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch http://identifiers.org/mesh/C535564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861099
property_value: exactMatch Orphanet:988

[Term]
id: MONDO:0020307
name: benign childhood occipital epilepsy, Panayiotopoulos type
def: "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." [Orphanet:98815]
subset: ordo_clinical_subtype {source="Orphanet:98815"}
synonym: "early-onset benign childhood occipital epilepsy" EXACT [Orphanet:98815]
synonym: "Panayiotopoulos syndrome" EXACT [Orphanet:98815]
xref: ICD10:G40.0 {source="ORDO:98815/attributed", source="ORDO:98815/ntbt", source="Orphanet:98815"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:98815 {source="MONDO:equivalentTo"}
xref: SCTID:230387008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.44"}
xref: UMLS:CN207127 {source="MONDO:equivalentTo"}
is_a: MONDO:0007558 {source="Orphanet:98815"} ! benign occipital epilepsy
property_value: exactMatch http://identifiers.org/snomedct/230387008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207127
property_value: exactMatch Orphanet:98815

[Term]
id: MONDO:0020308
name: benign childhood occipital epilepsy, Gastaut type
def: "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." [Orphanet:98816]
subset: ordo_clinical_subtype {source="Orphanet:98816"}
synonym: "late-onset benign childhood occipital epilepsy" EXACT [Orphanet:98816]
xref: ICD10:G40.0 {source="ORDO:98816/attributed", source="ORDO:98816/ntbt", source="Orphanet:98816"}
xref: Orphanet:98816 {source="MONDO:equivalentTo"}
xref: UMLS:CN207128 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0007558 {source="Orphanet:98816"} ! benign occipital epilepsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207128
property_value: exactMatch Orphanet:98816

[Term]
id: MONDO:0020309
name: obsolete Landau-Kleffner syndrome
is_obsolete: true
replaced_by: MONDO:0009509

[Term]
id: MONDO:0020310
name: familial focal epilepsy with variable foci
def: "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." [Orphanet:98820]
subset: ordo_disease {source="Orphanet:98820"}
subset: prototype_pattern
synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIM:604364]
synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820]
synonym: "FFEVF" RELATED [MONDO:Lexical, OMIM:604364, Orphanet:98820]
xref: DC:0000729 {source="MONDO:equivalentTo"}
xref: GARD:0013295 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: MESH:C565785 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:604364 {source="DC:0000729", source="MONDO:equivalentTo"}
xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"}
xref: SCTID:764522009 {source="MONDO:equivalentTo"}
xref: UMLS:CN207131 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017704 {source="MONDOLEX:0020310", source="Orphanet:98820"} ! familial partial epilepsy
is_a: MONDO:0100036 {source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy
property_value: exactMatch http://identifiers.org/mesh/C565785
property_value: exactMatch http://identifiers.org/snomedct/764522009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207131
property_value: exactMatch Orphanet:98820

[Term]
id: MONDO:0020311
name: chronic myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178]
subset: ordo_disease {source="Orphanet:98823"}
synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178]
synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178]
synonym: "CMML" EXACT [NCIT:C3178, Orphanet:98823]
xref: DOID:0080188 {source="MONDO:equivalentTo"}
xref: GARD:0008225 {source="MONDO:equivalentTo"}
xref: ICD10:C93.1 {source="ORDO:98823/e", source="Orphanet:98823"}
xref: ICDO:9945/3 {source="NCIT:C3178"}
xref: MedDRA:10009018 {source="ORDO:98823/e", source="Orphanet:98823"}
xref: MESH:D015477 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="Orphanet:98823"}
xref: NCIT:C3178 {source="DOID:0080188", source="MONDO:equivalentTo"}
xref: ONCOTREE:CMML {source="MONDO:equivalentTo"}
xref: Orphanet:98823 {source="MONDO:equivalentTo"}
xref: SCTID:127225006 {source="MONDO:kboom-pr-0.88/0.75/0.16", source="MONDO:equivalentTo"}
xref: UMLS:C0023480 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="NCIT:C3178", source="Orphanet:98823"}
is_a: MONDO:0001014 {source="DOID:0080188", source="linkedlifedata"} ! chronic leukemia
is_a: MONDO:0006311 {source="NCIT:C3178", source="ONCOTREE:CMML"} ! myelodysplastic/myeloproliferative Neoplasm
is_a: MONDO:0020077 {source="MESH:D015477", source="Orphanet:98823"} ! myelodysplastic/myeloproliferative disease
property_value: exactMatch DOID:0080188
property_value: exactMatch http://identifiers.org/meddra/10009018
property_value: exactMatch http://identifiers.org/mesh/D015477
property_value: exactMatch http://identifiers.org/snomedct/127225006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023480
property_value: exactMatch NCIT:C3178
property_value: exactMatch Orphanet:98823

[Term]
id: MONDO:0020312
name: atypical chronic myeloid leukemia
comment: Editor note: consider merge with MONDO:0004653
subset: ordo_disease {source="Orphanet:98824"}
synonym: "aCML" EXACT [DOID:0060597]
synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [DOID:0060597]
synonym: "atypical CML" EXACT [DOID:0060597]
synonym: "subacute granulocytic leukemia" EXACT [DOID:0060597]
synonym: "subacute myelogenous leukemia" EXACT EXCLUDE [DOID:0060597]
synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, Orphanet:98824]
xref: DOID:0060597 {source="MONDO:equivalentTo"}
xref: ICD10:C92.2 {source="DOID:0060597", source="ORDO:98824/e", source="Orphanet:98824"}
xref: MedDRA:10054651 {source="ORDO:98824/e", source="Orphanet:98824"}
xref: Orphanet:98824 {source="DOID:0060597", source="MONDO:equivalentTo"}
is_a: MONDO:0006311 {source="DOID:0060597", source="NCIT:C3519"} ! myelodysplastic/myeloproliferative Neoplasm
is_a: MONDO:0020077 {source="Orphanet:98824"} ! myelodysplastic/myeloproliferative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292772
property_value: exactMatch DOID:0060597
property_value: exactMatch http://identifiers.org/meddra/10054651
property_value: exactMatch http://identifiers.org/mesh/D054438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349640
property_value: exactMatch Orphanet:98824

[Term]
id: MONDO:0020313
name: unclassified myelodysplastic/myeloproliferative disease
subset: ordo_disease {source="Orphanet:98825"}
synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [Orphanet:98825]
xref: Orphanet:98825 {source="MONDO:equivalentTo"}
xref: UMLS:CN207134 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020077 {source="Orphanet:98825"} ! myelodysplastic/myeloproliferative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207134
property_value: exactMatch Orphanet:98825

[Term]
id: MONDO:0020314
name: obsolete refractory anemia
is_obsolete: true
replaced_by: MONDO:0005272

[Term]
id: MONDO:0020315
name: unclassified myelodysplastic syndrome
def: "Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance." [Orphanet:98827]
subset: ordo_disease {source="Orphanet:98827"}
xref: ICD10:D46.7 {source="ORDO:98827/ntbt", source="Orphanet:98827"}
xref: Orphanet:98827 {source="MONDO:equivalentTo"}
xref: UMLS:CN207136 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019453 {source="Orphanet:98827"} ! refractory cytopenia with multilineage dysplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207136
property_value: exactMatch Orphanet:98827

[Term]
id: MONDO:0020316
name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
def: "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia , a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia ) or easy bruising or bleeding (due to thrombocytopenia ). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy ." [https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22]
subset: gard_rare {source="GARD:0000536"}
subset: ordo_disease {source="Orphanet:98829"}
synonym: "acute myelomonocytic leukemia" RELATED [GARD:0000536]
synonym: "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" EXACT [Orphanet:98829]
synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:0000536]
synonym: "CBFB-MYH11" RELATED [GARD:0000536]
xref: GARD:0000536 {source="MONDO:equivalentTo"}
xref: ICD10:C92.5 {source="ORDO:98829/e", source="Orphanet:98829"}
xref: Orphanet:98829 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="Orphanet:98829"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: exactMatch Orphanet:98829
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 xsd:anyURI {source="GARD:0000536"}

[Term]
id: MONDO:0020317
name: acute myeloid leukemia with 11q23 abnormalities
def: "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." [NCIT:P378]
subset: ordo_disease {source="Orphanet:98831"}
synonym: "acute myeloid leukemia with 11q23 (MLL) abnormalities" EXACT [NCIT:C82403]
synonym: "acute myeloid leukemia with MLL abnormalities" EXACT [NCIT:C82403]
synonym: "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403]
synonym: "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" RELATED [NCIT:C82403]
synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403]
synonym: "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403]
synonym: "AML with 11q23 abnormalities" EXACT [Orphanet:98831]
synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403]
xref: ICD10:C92.6 {source="ORDO:98831/e", source="Orphanet:98831"}
xref: ICDO:9897/3 {source="NCIT:C82403"}
xref: NCIT:C82403 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo"}
xref: Orphanet:98831 {source="MONDO:equivalentTo"}
xref: SCTID:444911000 {source="MONDO:equivalentTo"}
is_a: MONDO:0020078 {source="NCIT:C82403", source="Orphanet:98831"} ! acute myeloid leukemia with recurrent genetic anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2919692
property_value: exactMatch http://identifiers.org/snomedct/444911000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292775
property_value: exactMatch NCIT:C82403
property_value: exactMatch Orphanet:98831

[Term]
id: MONDO:0020319
name: obsolete acute myeloblastic leukemia without maturation
is_obsolete: true
replaced_by: MONDO:0005224

[Term]
id: MONDO:0020320
name: acute myeloblastic leukemia with maturation
def: "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:0000527"}
subset: ordo_disease {source="Orphanet:98834"}
synonym: "acute M2 myeloid leukemia" EXACT [NCIT:C3250]
synonym: "acute myeloblastic leukemia M2" EXACT [Orphanet:98834]
synonym: "acute myeloblastic leukemia type 2" RELATED [GARD:0000527]
synonym: "acute myelocytic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "acute myelogenous leukemia with maturation" EXACT [NCIT:C3250]
synonym: "acute myeloid leukemia (AML-M2)" EXACT [NCIT:C3250]
synonym: "acute myeloid leukemia with maturation" EXACT [NCIT:C3250]
synonym: "AM" RELATED [ONCOTREE:AM]
synonym: "AML M2" EXACT [Orphanet:98834]
synonym: "AML with maturation" EXACT [NCIT:C3250]
synonym: "FAB M2" EXACT [NCIT:C3250]
synonym: "LAM M2" RELATED [GARD:0000527]
synonym: "M2 acute granulocytic leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloblastic leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloblastic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myelocytic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myelogenous leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myelogenous leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250]
xref: EFO:0003028 {source="MONDO:equivalentTo"}
xref: GARD:0000527 {source="MONDO:equivalentTo"}
xref: ICD10:C92.0 {source="Orphanet:98834", source="ORDO:98834/ntbt"}
xref: ICDO:9874/3 {source="NCIT:C3250"}
xref: NCIT:C3250 {source="MONDO:equivalentTo", source="EFO:0003028", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: ONCOTREE:AM {source="MONDO:equivalentTo"}
xref: Orphanet:98834 {source="MONDO:equivalentTo"}
is_a: MONDO:0011118 {source="EFO:0003028"} ! bilineal acute myeloid leukemia
property_value: closeMatch http://identifiers.org/snomedct/103691009
property_value: exactMatch NCIT:C3250
property_value: exactMatch Orphanet:98834
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation xsd:anyURI {source="GARD:0000527"}

[Term]
id: MONDO:0020321
name: acute undifferentiated leukemia
def: "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." [NCIT:C9298]
subset: ordo_disease {source="Orphanet:98835"}
synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [NCIT:C9298]
synonym: "acute leukemia, NOS" RELATED EXCLUDE [NCIT:C9298]
synonym: "acute myeloid leukemia, minimal differentiation, FAB M0" EXACT [Orphanet:98835]
synonym: "acute undifferentiated leukemia" EXACT [NCIT:C9298]
synonym: "AUL" RELATED [ONCOTREE:AUL]
synonym: "leukemia stem cell" EXACT [NCIT:C9298]
synonym: "stem cell acute leukemia" EXACT [NCIT:C9298]
synonym: "stem cell leukemia" EXACT [NCIT:C9298]
synonym: "undifferentiated acute leukemia" EXACT [NCIT:C9298]
xref: ICD10:C95.0 {source="ORDO:98835/ntbt", source="Orphanet:98835"}
xref: MedDRA:10045516 {source="ORDO:98835/e", source="Orphanet:98835"}
xref: NCIT:C9298 {source="MONDO:equivalentTo", source="kboom:pr0.86-conf12.42"}
xref: ONCOTREE:AUL {source="MONDO:equivalentTo"}
xref: Orphanet:98835 {source="MONDO:equivalentTo"}
xref: SCTID:359631009 {source="MONDO:equivalentTo"}
xref: UMLS:C0280141 {source="MONDO:equivalentTo", source="Orphanet:98835"}
xref: UMLS:C0856823 {source="ORDO:98835/e", source="MONDO:equivalentTo", source="Orphanet:98835"}
xref: UMLS:C1282947 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011118 ! bilineal acute myeloid leukemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1378511
property_value: exactMatch http://identifiers.org/meddra/10045516
property_value: exactMatch http://identifiers.org/snomedct/359631009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280141
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282947
property_value: exactMatch NCIT:C9298
property_value: exactMatch Orphanet:98835

[Term]
id: MONDO:0020322
name: acute biphenotypic leukemia
def: "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" [NCIT:P378]
subset: ordo_disease {source="Orphanet:98837"}
synonym: "B- and T-cell mixed leukemia" EXACT [MONDO:0006667]
xref: DOID:9953 {source="EFO:1000828", source="MONDO:equivalentTo"}
xref: EFO:1000828 {source="MONDO:equivalentTo"}
xref: ICD10:C95.0 {source="DOID:9953", source="ORDO:98837/ntbt", source="Orphanet:98837"}
xref: ICD9:207.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9805/3 {source="NCIT:C4673"}
xref: MedDRA:10067399 {source="ORDO:98837/e", source="Orphanet:98837"}
xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="ORDO:98837/e", source="Orphanet:98837"}
xref: NCIT:C4673 {source="DOID:9953", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:98837 {source="MONDO:equivalentTo"}
xref: SCTID:278453007 {source="DOID:9953", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0023464 {source="DOID:9953", source="MONDO:equivalentTo", source="NCIT:C4673", source="ORDO:98837/e", source="Orphanet:98837"}
is_a: MONDO:0004967 {source="DOID:9953", source="EFO:1000828"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0017814 ! primary bone lymphoma
is_a: MONDO:0020743 {source="NCIT:C4673"} ! mixed phenotype acute leukemia
property_value: closeMatch http://identifiers.org/snomedct/128818009
property_value: exactMatch DOID:9953
property_value: exactMatch http://identifiers.org/meddra/10067399
property_value: exactMatch http://identifiers.org/mesh/D015456
property_value: exactMatch http://identifiers.org/snomedct/278453007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023464
property_value: exactMatch NCIT:C4673
property_value: exactMatch Orphanet:98837

[Term]
id: MONDO:0020323
name: primary mediastinal large B-cell lymphoma
def: "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" [NCIT:C9280]
subset: ordo_disease {source="Orphanet:98838"}
synonym: "B-cell diffuse large cell lymphoma of mediastinum" EXACT [NCIT:C9280]
synonym: "B-cell diffuse large cell lymphoma of the mediastinum" EXACT [NCIT:C9280]
synonym: "large cell lymphoma of the mediastinum" EXACT [DOID:0080210, Orphanet:98838]
synonym: "Med-DLBCL" EXACT [Orphanet:98838]
synonym: "mediastinal (thymic) large B-cell lymphoma" EXACT [NCIT:C9280]
synonym: "mediastinal B-cell diffuse large cell lymphoma" EXACT [NCIT:C9280]
synonym: "mediastinal diffuse large cell lymphoma with sclerosis" EXACT [NCIT:C9280]
synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [DOID:0080210, Orphanet:98838]
synonym: "mediastinal large B-cell lymphoma" EXACT [NCIT:C9280]
synonym: "PMBL" EXACT [NCIT:C9280, ONCOTREE:PMBL]
synonym: "PMLCL" EXACT [NCIT:C9280]
synonym: "primary mediastinal (thymic) large B-cell lymphoma" RELATED [ONCOTREE:PMBL]
synonym: "primary mediastinal B-cell lymphoma" RELATED [DOID:0080210]
synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, Orphanet:98838]
synonym: "primary mediastinal large B-cell lymphoma" EXACT [NCIT:C9280]
xref: DOID:0080210 {source="MONDO:equivalentTo"}
xref: ICD10:C83.3 {source="ORDO:98838/ntbt", source="Orphanet:98838"}
xref: ICD10:C85.2 {source="DOID:0080210"}
xref: ICDO:9679/3 {source="NCIT:C9280"}
xref: MedDRA:10036710 {source="ORDO:98838/e", source="Orphanet:98838"}
xref: NCIT:C9280 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PMBL {source="MONDO:equivalentTo"}
xref: Orphanet:98838 {source="DOID:0080210", source="MONDO:equivalentTo"}
xref: SCTID:444910004 {source="MONDO:equivalentTo"}
xref: UMLS:C1292754 {source="MONDO:equivalentTo", source="ORDO:98838/e", source="NCIT:C9280", source="Orphanet:98838"}
is_a: MONDO:0000951 {source="NCIT:C9280"} ! thymus lymphoma
is_a: MONDO:0018905 {source="DOID:0080210", source="NCIT:C9280", source="Orphanet:98838"} ! diffuse large B-cell lymphoma
property_value: exactMatch DOID:0080210
property_value: exactMatch http://identifiers.org/meddra/10036710
property_value: exactMatch http://identifiers.org/snomedct/444910004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855152
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1292754
property_value: exactMatch NCIT:C9280
property_value: exactMatch Orphanet:98838

[Term]
id: MONDO:0020324
name: intravascular large B-cell lymphoma
def: "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." [Orphanet:98839]
subset: ordo_disease {source="Orphanet:98839"}
synonym: "angioendotheliomatosis proliferans systemisata" EXACT [Orphanet:98839]
synonym: "angiotropic large cell lymphoma" EXACT [NCIT:C4342, Orphanet:98839]
synonym: "angiotropic lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular B-cell lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular large B-cell lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular lymphomatosis" EXACT [Orphanet:98839]
synonym: "IVBCL" RELATED [ONCOTREE:IVBCL]
synonym: "malignant angioendotheliomatosis" EXACT [NCIT:C4342, Orphanet:98839]
synonym: "Tappeiner-Pfleger disease" EXACT [Orphanet:98839]
xref: ICD10:C83.3 {source="ORDO:98839/ntbt", source="Orphanet:98839"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9712/3 {source="NCIT:C4342"}
xref: MedDRA:10069643 {source="ORDO:98839/e", source="Orphanet:98839"}
xref: NCIT:C4342 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:IVBCL {source="MONDO:equivalentTo"}
xref: Orphanet:98839 {source="MONDO:equivalentTo"}
xref: SCTID:255102004 {source="MONDO:kboom-pr-1.00/0.79/8.10", source="MONDO:equivalentTo"}
xref: UMLS:CN207146 {source="MONDO:equivalentTo"}
is_a: MONDO:0018905 {source="NCIT:C4342", source="Orphanet:98839"} ! diffuse large B-cell lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334660
property_value: exactMatch http://identifiers.org/meddra/10069643
property_value: exactMatch http://identifiers.org/snomedct/255102004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207146
property_value: exactMatch NCIT:C4342
property_value: exactMatch Orphanet:98839

[Term]
id: MONDO:0020325
name: anaplastic large cell lymphoma
def: "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL (see these terms)." [Orphanet:98841]
subset: gard_rare {source="GARD:0003112"}
subset: ordo_disease {source="Orphanet:98841"}
synonym: "ALCL" EXACT [NCIT:C3720, Orphanet:98841]
synonym: "anaplastic large cell lymphoma" EXACT [MONDO:0005228, NCIT:C3720]
synonym: "CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C3720]
synonym: "CD30 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841]
synonym: "Ki-1 lymphoma" EXACT [NCIT:C3720]
synonym: "Ki-1 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841]
synonym: "Ki-1+ ALCL" EXACT [NCIT:C3720]
synonym: "Ki-1+ anaplastic large cell lymphoma" EXACT [NCIT:C3720]
synonym: "primary systemic ALCL" EXACT [Orphanet:98841]
synonym: "sACL" EXACT [Orphanet:98841]
xref: COHD:441235 {source="MONDO:equivalentTo"}
xref: DOID:0050744 {source="MONDO:equivalentTo", source="EFO:0003032"}
xref: EFO:0003032 {source="MONDO:equivalentTo"}
xref: GARD:0003112 {source="MONDO:equivalentTo"}
xref: HGNC:427 {source="GARD:0003112"}
xref: ICD10:C84.6 {source="Orphanet:98841", source="ORDO:98841/btnt"}
xref: ICD10:C84.7 {source="Orphanet:98841", source="ORDO:98841/btnt"}
xref: ICD9:200.6 {source="EFO:0003032"}
xref: ICD9:200.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICDO:9714/3 {source="NCIT:C3720"}
xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="ORDO:98841/e"}
xref: NCIT:C3720 {source="MONDO:equivalentTo", source="EFO:0003032"}
xref: ONCOTREE:ALCL {source="MONDO:equivalentTo"}
xref: Orphanet:98841 {source="MONDO:equivalentTo"}
xref: SCTID:277637000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
xref: UMLS:C0206180 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:98841", source="MONDO:equivalentTo", source="NCIT:C3720"}
is_a: MONDO:0000430 ! mature T-cell and NK-cell non-Hodgkin lymphoma
property_value: exactMatch DOID:0050744
property_value: exactMatch http://identifiers.org/mesh/D017728
property_value: exactMatch http://identifiers.org/snomedct/277637000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206180
property_value: exactMatch NCIT:C3720
property_value: exactMatch Orphanet:98841
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma xsd:anyURI {source="GARD:0003112"}

[Term]
id: MONDO:0020326
name: lymphomatoid papulosis
def: "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features." [Orphanet:98842]
subset: gard_rare {source="GARD:0006944"}
subset: ordo_disease {source="Orphanet:98842"}
synonym: "LYP" RELATED [ONCOTREE:LYP]
synonym: "LyP" EXACT [Orphanet:98842]
xref: EFO:1000341 {source="MONDO:equivalentTo"}
xref: GARD:0006944 {source="MONDO:equivalentTo"}
xref: ICD10:C86.6 {source="ORDO:98842/e", source="Orphanet:98842"}
xref: ICD10:L41.2 {source="MONDO:equivalentTo"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9718/1 {source="NCIT:C3721"}
xref: MedDRA:10056670 {source="ORDO:98842/e", source="Orphanet:98842"}
xref: MESH:D017731 {source="ORDO:98842/e", source="Orphanet:98842", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3721 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:LYP {source="MONDO:equivalentTo"}
xref: Orphanet:98842 {source="MONDO:equivalentTo"}
xref: SCTID:31047003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0206182 {source="ORDO:98842/e", source="Orphanet:98842", source="MONDO:equivalentTo", source="NCIT:C3721"}
is_a: MONDO:0018897 {source="Orphanet:98842"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease
property_value: exactMatch http://identifiers.org/meddra/10056670
property_value: exactMatch http://identifiers.org/mesh/D017731
property_value: exactMatch http://identifiers.org/snomedct/31047003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206182
property_value: exactMatch NCIT:C3721
property_value: exactMatch Orphanet:98842
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis xsd:anyURI {source="GARD:0006944"}

[Term]
id: MONDO:0020327
name: classic Hodgkin lymphoma, nodular sclerosis type
subset: ordo_histopathological_subtype {source="Orphanet:98843"}
xref: ICD10:C81.1 {source="ORDO:98843/e", source="Orphanet:98843"}
xref: Orphanet:98843 {source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0020327", source="Orphanet:98843"} ! classic Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152268
property_value: exactMatch Orphanet:98843

[Term]
id: MONDO:0020328
name: classic Hodgkin lymphoma, mixed cellularity type
subset: ordo_histopathological_subtype {source="Orphanet:98844"}
xref: ICD10:C81.2 {source="ORDO:98844/e", source="Orphanet:98844"}
xref: Orphanet:98844 {source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0020328", source="Orphanet:98844"} ! classic Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152266
property_value: exactMatch Orphanet:98844

[Term]
id: MONDO:0020329
name: classic Hodgkin lymphoma, lymphocyte-rich type
subset: ordo_histopathological_subtype {source="Orphanet:98845"}
xref: ICD10:C81.4 {source="ORDO:98845/e", source="Orphanet:98845"}
xref: MedDRA:10020231 {source="ORDO:98845/e", source="Orphanet:98845"}
xref: Orphanet:98845 {source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0020329", source="Orphanet:98845"} ! classic Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/meddra/10020231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266194
property_value: exactMatch Orphanet:98845

[Term]
id: MONDO:0020330
name: classic Hodgkin lymphoma, lymphocyte-depleted type
subset: ordo_histopathological_subtype {source="Orphanet:98846"}
xref: ICD10:C81.3 {source="ORDO:98846/e", source="Orphanet:98846"}
xref: Orphanet:98846 {source="MONDO:equivalentTo"}
is_a: MONDO:0009348 {source="MONDOLEX:0020330", source="Orphanet:98846"} ! classic Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152267
property_value: exactMatch Orphanet:98846

[Term]
id: MONDO:0020331
name: indolent systemic mastocytosis
def: "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM; see this term) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." [Orphanet:98848]
subset: ordo_disease {source="Orphanet:98848"}
synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4660]
synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM]
xref: DOID:4660 {source="MONDO:equivalentTo"}
xref: ICD10:D47.0 {source="ORDO:98848/ntbt", source="Orphanet:98848", source="DOID:4660"}
xref: ICDO:9741/1 {source="NCIT:C9286"}
xref: MedDRA:10056452 {source="ORDO:98848/e", source="Orphanet:98848"}
xref: NCIT:C9286 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4660"}
xref: ONCOTREE:ISM {source="MONDO:equivalentTo"}
xref: Orphanet:98848 {source="MONDO:equivalentTo"}
xref: SCTID:70910003 {source="MONDO:equivalentTo", source="DOID:4660", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0272203 {source="MONDO:equivalentTo", source="ORDO:98848/e", source="Orphanet:98848", source="DOID:4660", source="NCIT:C9286"}
is_a: MONDO:0016586 {source="DOID:4660", source="MONDOLEX:0020331", source="NCIT:C9286/inferred", source="ONCOTREE:ISM", source="Orphanet:98848", source="linkedlifedata"} ! systemic mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/397356009
property_value: exactMatch DOID:4660
property_value: exactMatch http://identifiers.org/meddra/10056452
property_value: exactMatch http://identifiers.org/snomedct/70910003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272203
property_value: exactMatch NCIT:C9286
property_value: exactMatch Orphanet:98848

[Term]
id: MONDO:0020332
name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
def: "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." [Orphanet:98849]
subset: ordo_disease {source="Orphanet:98849"}
synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284]
synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284]
synonym: "SMAHN" EXACT ABBREVIATION [ONCOTREE:SMAHN]
synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849]
xref: DOID:4797 {source="MONDO:equivalentTo"}
xref: EFO:1000559 {source="MONDO:equivalentTo"}
xref: ICD10:C96.2 {source="ORDO:98849/ntbt", source="Orphanet:98849"}
xref: ICDO:9741/3 {source="NCIT:C9284"}
xref: NCIT:C9284 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:4797", source="MONDO:equivalentTo", source="EFO:1000559"}
xref: ONCOTREE:SMAHN {source="MONDO:equivalentTo"}
xref: Orphanet:98849 {source="MONDO:equivalentTo"}
xref: SCTID:397015000 {source="DOID:4797", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
is_a: MONDO:0016586 {source="MONDOLEX:0020332", source="Orphanet:98849"} ! systemic mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/397357000
property_value: exactMatch DOID:4797
property_value: exactMatch http://identifiers.org/snomedct/397015000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301365
property_value: exactMatch NCIT:C9284
property_value: exactMatch Orphanet:98849

[Term]
id: MONDO:0020333
name: aggressive systemic mastocytosis
def: "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." [Orphanet:98850]
subset: ordo_disease {source="Orphanet:98850"}
synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4798]
synonym: "ASM" EXACT [DOID:4798, NCIT:C9285, ONCOTREE:ASM]
synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798]
xref: DOID:4798 {source="MONDO:equivalentTo"}
xref: ICD10:C96.2 {source="Orphanet:98850", source="DOID:4798", source="ORDO:98850/ntbt"}
xref: ICDO:9741/3 {source="NCIT:C9285"}
xref: MedDRA:10056453 {source="Orphanet:98850", source="ORDO:98850/e"}
xref: NCIT:C9285 {source="DOID:4798", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:ASM {source="MONDO:equivalentTo"}
xref: Orphanet:98850 {source="MONDO:equivalentTo"}
xref: SCTID:716655008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.13"}
xref: UMLS:C1112486 {source="Orphanet:98850", source="DOID:4798", source="MONDO:equivalentTo", source="ORDO:98850/e", source="NCIT:C9285"}
is_a: MONDO:0016586 {source="DOID:4798", source="MONDOLEX:0020333", source="NCIT:C9285/inferred", source="ONCOTREE:ASM", source="Orphanet:98850", source="linkedlifedata"} ! systemic mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/397008008
property_value: closeMatch http://identifiers.org/snomedct/397358005
property_value: exactMatch DOID:4798
property_value: exactMatch http://identifiers.org/meddra/10056453
property_value: exactMatch http://identifiers.org/snomedct/716655008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112486
property_value: exactMatch NCIT:C9285
property_value: exactMatch Orphanet:98850

[Term]
id: MONDO:0020334
name: mast cell leukemia
def: "Mast cell leukemia is a malignant form of systemic mastocytosis (SM; see this term) characterized, most of the time, by the presence of circulating mast cells." [Orphanet:98851]
subset: ordo_group_of_disorders {source="Orphanet:98851"}
synonym: "Mast cell leukemia" EXACT [NCIT:C3169]
synonym: "mast-cell leukemia" EXACT [MONDO:0005840]
synonym: "SMMCL" RELATED [ONCOTREE:SMMCL]
xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"}
xref: EFO:0007359 {source="MONDO:equivalentTo"}
xref: ICD10:C94.3 {source="Orphanet:98851", source="DOID:9254", source="ORDO:98851/e"}
xref: ICD10:C94.30 {source="DOID:9254"}
xref: ICDO:9742/3 {source="NCIT:C3169"}
xref: MedDRA:10056450 {source="Orphanet:98851", source="ORDO:98851/e"}
xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="DOID:9254", source="ORDO:98851/e"}
xref: NCIT:C3169 {source="MONDO:equivalentTo", source="DOID:9254"}
xref: ONCOTREE:SMMCL {source="MONDO:equivalentTo"}
xref: Orphanet:98851 {source="MONDO:equivalentTo"}
xref: SCTID:110002002 {source="MONDO:equivalentTo", source="DOID:9254"}
xref: UMLS:C0023461 {source="Orphanet:98851", source="MONDO:equivalentTo", source="NCIT:C3169", source="DOID:9254", source="ORDO:98851/e"}
is_a: MONDO:0005059 {source="DOID:9254", source="EFO:0007359", source="MESH:D007946", source="MESH:D007946/inferred", source="NCIT:C3169", source="linkedlifedata"} ! leukemia (disease)
is_a: MONDO:0016586 {source="NCIT:C3169/inferred", source="ONCOTREE:SMMCL", source="Orphanet:98851"} ! systemic mastocytosis
property_value: closeMatch http://identifiers.org/snomedct/128924002
property_value: closeMatch http://identifiers.org/snomedct/188755006
property_value: closeMatch http://identifiers.org/snomedct/70798001
property_value: exactMatch DOID:9254
property_value: exactMatch http://identifiers.org/meddra/10056450
property_value: exactMatch http://identifiers.org/mesh/D007946
property_value: exactMatch http://identifiers.org/snomedct/110002002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023461
property_value: exactMatch NCIT:C3169
property_value: exactMatch Orphanet:98851

[Term]
id: MONDO:0020335
name: obsolete desquamative interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0009887

[Term]
id: MONDO:0020336
name: autosomal dominant Emery-Dreifuss muscular dystrophy
def: "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_dominant]
subset: gard_rare
subset: ordo_etiological_subtype {source="Orphanet:98853"}
synonym: "EDMD2" EXACT [Orphanet:98853]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:0002101 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98853", source="ORDO:98853/attributed", source="ORDO:98853/ntbt"}
xref: Orphanet:98853 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:98853"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410190
property_value: exactMatch Orphanet:98853

[Term]
id: MONDO:0020337
name: congenital dyserythropoietic anemia type 1
def: "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." [Orphanet:98869]
subset: ordo_disease {source="Orphanet:98869"}
synonym: "anemia, dyserythropoietic, congenital type 1" RELATED [GARD:0002000]
synonym: "CDA I" EXACT [Orphanet:98869]
synonym: "CDA type 1" EXACT [Orphanet:98869]
synonym: "CDA type I" EXACT [Orphanet:98869]
synonym: "congenital dyserythropoietic anemia type 1" EXACT [Orphanet:98869]
synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000]
synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000]
xref: GARD:0002000 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D64.4 {source="MONDO:subClassOf", source="ORDO:98869/attributed", source="ORDO:98869/ntbt", source="Orphanet:98869"}
xref: Orphanet:98869 {source="MONDO:equivalentTo"}
xref: SCTID:59548005 {source="MONDO:equivalentTo"}
is_a: MONDO:0019403 {source="Orphanet:98869", source="linkedlifedata"} ! congenital dyserythropoietic anemia
property_value: exactMatch http://identifiers.org/snomedct/59548005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271933
property_value: exactMatch Orphanet:98869

[Term]
id: MONDO:0020338
name: adult pure red cell aplasia
def: "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." [Orphanet:98872]
subset: ordo_disease {source="Orphanet:98872"}
synonym: "acquired PRCA" RELATED [GARD:0010898]
synonym: "acquired pure red cell aplasia" RELATED [GARD:0010898]
synonym: "adult pure red-cell aplasia" EXACT [MONDO:design_pattern]
synonym: "idiopathic pure red cell aplasia" RELATED [GARD:0010898]
synonym: "pure red-cell aplasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:0010898 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D60.0 {source="Orphanet:98872", source="ORDO:98872/ntbt"}
xref: NCIT:C70548 {source="MONDO:equivalentTo"}
xref: Orphanet:98872 {source="MONDO:equivalentTo"}
xref: SCTID:765748009 {source="MONDO:equivalentTo"}
xref: UMLS:C0340961 {source="MONDO:equivalentTo"}
is_a: MONDO:0001705 ! pure red-cell aplasia
is_a: MONDO:0020113 {source="Orphanet:98872"} ! red cell aplasia
property_value: exactMatch http://identifiers.org/snomedct/765748009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340961
property_value: exactMatch NCIT:C70548
property_value: exactMatch Orphanet:98872

[Term]
id: MONDO:0020339
name: X-linked complex spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:98888"}
synonym: "Complex X-linked HSP" EXACT [Orphanet:98888]
synonym: "Complex X-linked SPG" EXACT [Orphanet:98888]
synonym: "complicated X-linked HSP" EXACT [Orphanet:98888]
synonym: "complicated X-linked SPG" EXACT [Orphanet:98888]
synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888]
xref: ICD10:G11.4 {source="MONDO:subClassOf", source="Orphanet:98888", source="ORDO:98888/attributed", source="ORDO:98888/ntbt"}
xref: Orphanet:98888 {source="MONDO:equivalentTo"}
is_a: MONDO:0015150 {source="Orphanet:98888"} ! complex hereditary spastic paraplegia
property_value: exactMatch Orphanet:98888

[Term]
id: MONDO:0020340
name: bilateral perisylvian polymicrogyria
subset: ordo_clinical_subtype {source="Orphanet:98889"}
xref: GARD:0006011 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:98889", source="ORDO:98889/attributed", source="ORDO:98889/ntbt"}
xref: Orphanet:98889 {source="MONDO:equivalentTo"}
is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845668
property_value: exactMatch Orphanet:98889

[Term]
id: MONDO:0020341
name: periventricular nodular heterotopia
def: "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." [Orphanet:98892]
subset: ordo_clinical_subtype {source="Orphanet:98892"}
synonym: "periventricular heterotopia" EXACT [DOID:0050454]
xref: DOID:0050454 {source="MONDO:equivalentTo"}
xref: GARD:0012724 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.8 {source="ORDO:98892/attributed", source="ORDO:98892/ntbt", source="Orphanet:98892"}
xref: MedDRA:10066854 {source="ORDO:98892/e", source="Orphanet:98892"}
xref: MESH:D054091 {source="DOID:0050454", source="MONDO:equivalentTo", source="ORDO:98892/e", source="Orphanet:98892"}
xref: OMIMPS:300049 {source="MONDO:equivalentTo"}
xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"}
xref: UMLS:C1868720 {source="DOID:0050454", source="MONDO:equivalentTo", source="ORDO:98892/e", source="Orphanet:98892"}
is_a: MONDO:0016292 {source="Orphanet:98892"} ! nodular neuronal heterotopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848213
property_value: exactMatch DOID:0050454
property_value: exactMatch http://identifiers.org/meddra/10066854
property_value: exactMatch http://identifiers.org/mesh/D054091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868720
property_value: exactMatch Orphanet:98892

[Term]
id: MONDO:0020342
name: congenital myopathy with excess of thin filaments
subset: ordo_disease {source="Orphanet:98904"}
synonym: "actin myopathy" EXACT [Orphanet:98904]
xref: ICD10:G71.2 {source="ORDO:98904/attributed", source="ORDO:98904/ntbt", source="Orphanet:98904"}
xref: MESH:C579880 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:98904 {source="MONDO:equivalentTo"}
is_a: MONDO:0016193 {source="Orphanet:98904"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! actinopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834336
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3711389
property_value: exactMatch http://identifiers.org/mesh/C579880
property_value: exactMatch Orphanet:98904

[Term]
id: MONDO:0020343
name: alpha-crystallinopathy
subset: ordo_group_of_disorders {source="Orphanet:98910"}
synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910]
xref: ICD10:G71.8 {source="Orphanet:98910", source="ORDO:98910/attributed", source="ORDO:98910/ntbt"}
xref: Orphanet:98910 {source="MONDO:equivalentTo"}
is_a: MONDO:0016188 {source="Orphanet:98910"} ! qualitative or quantitative defects of alphaB-cristallin
is_a: MONDO:0018943 {source="Orphanet:98910"} ! myofibrillar myopathy (disease)
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:98910

[Term]
id: MONDO:0020344
name: postsynaptic congenital myasthenic syndrome
subset: ordo_etiological_subtype {source="Orphanet:98913"}
synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913]
xref: ICD10:G70.2 {source="ORDO:98913/attributed", source="ORDO:98913/ntbt", source="Orphanet:98913"}
xref: Orphanet:98913 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="MONDO:Redundant", source="MONDOLEX:0020344", source="Orphanet:98913"} ! congenital myasthenic syndrome
property_value: exactMatch Orphanet:98913

[Term]
id: MONDO:0020345
name: presynaptic congenital myasthenic syndrome
subset: ordo_etiological_subtype {source="Orphanet:98914"}
synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914]
xref: ICD10:G70.2 {source="ORDO:98914/attributed", source="ORDO:98914/ntbt", source="Orphanet:98914"}
xref: Orphanet:98914 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="MONDO:Redundant", source="MONDOLEX:0020345", source="Orphanet:98914"} ! congenital myasthenic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751884
property_value: exactMatch Orphanet:98914

[Term]
id: MONDO:0020346
name: synaptic congenital myasthenic syndrome
subset: ordo_etiological_subtype {source="Orphanet:98915"}
synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915]
xref: ICD10:G70.2 {source="ORDO:98915/attributed", source="ORDO:98915/ntbt", source="Orphanet:98915"}
xref: Orphanet:98915 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="MONDOLEX:0020346", source="Orphanet:98915"} ! congenital myasthenic syndrome
property_value: exactMatch Orphanet:98915

[Term]
id: MONDO:0020347
name: acute inflammatory demyelinating polyradiculoneuropathy
def: "Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-BarrC) syndrome (GBS; see this term)." [Orphanet:98916]
comment: Editor note: check this
subset: ordo_disease {source="Orphanet:98916"}
synonym: "acute idiopathic demyelinating polyneuropathy" EXACT [Orphanet:98916]
synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [NCIT:C116926]
synonym: "acute inflammatory polyneuropathy" EXACT [Orphanet:98916]
synonym: "AIDP" EXACT [Orphanet:98916]
synonym: "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
synonym: "Guillain-BarrC) syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
synonym: "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:98916/ntbt", source="Orphanet:98916"}
xref: NCIT:C116926 {source="MONDO:equivalentTo"}
xref: Orphanet:98916 {source="MONDO:equivalentTo"}
xref: UMLS:CN207194 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0007691 {source="NCIT:C116926"} ! chronic inflammatory demyelinating polyneuropathy
is_a: MONDO:0016218 {source="MONDOLEX:0020347", source="NCIT:C116926", source="Orphanet:98916"} ! Guillain-Barre syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1963929
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3542501
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207194
property_value: exactMatch NCIT:C116926
property_value: exactMatch Orphanet:98916

[Term]
id: MONDO:0020348
name: acute motor and sensory axonal neuropathy
def: "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS; see this term)." [Orphanet:98917]
subset: ordo_disease {source="Orphanet:98917"}
synonym: "acute motor-sensory axonal GBS" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal Guillain-BarrC) syndrome" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal Guillain-Barré syndrome" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal neuropathy" EXACT [NCIT:C116927]
synonym: "AMSAN" EXACT [Orphanet:98917]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:98917/ntbt", source="Orphanet:98917"}
xref: NCIT:C116927 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:98917 {source="MONDO:equivalentTo"}
xref: SCTID:716722005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"}
xref: UMLS:CN207195 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0007691 {source="NCIT:C116927"} ! chronic inflammatory demyelinating polyneuropathy
is_a: MONDO:0016218 {source="MONDOLEX:0020348", source="NCIT:C116927", source="Orphanet:98917", source="linkedlifedata"} ! Guillain-Barre syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3900111
property_value: exactMatch http://identifiers.org/snomedct/716722005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207195
property_value: exactMatch NCIT:C116927
property_value: exactMatch Orphanet:98917

[Term]
id: MONDO:0020349
name: acute motor axonal neuropathy
def: "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS; see this term)." [Orphanet:98918]
subset: ordo_disease {source="Orphanet:98918"}
synonym: "acute pure motor GBS" EXACT [Orphanet:98918]
synonym: "acute pure motor Guillain-BarrC) syndrome" EXACT [Orphanet:98918]
synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918]
synonym: "AMAN" EXACT [Orphanet:98918]
xref: ICD10:G61.0 {source="MONDO:subClassOf", source="ORDO:98918/ntbt", source="Orphanet:98918"}
xref: NCIT:C116929 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:98918 {source="MONDO:equivalentTo"}
xref: SCTID:715770009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C3890941 {source="NCIT:C116929", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN207196 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0007691 {source="NCIT:C116929"} ! chronic inflammatory demyelinating polyneuropathy
is_a: MONDO:0016218 {source="MONDOLEX:0020349", source="NCIT:C116929", source="Orphanet:98918", source="linkedlifedata"} ! Guillain-Barre syndrome
property_value: exactMatch http://identifiers.org/snomedct/715770009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3890941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207196
property_value: exactMatch NCIT:C116929
property_value: exactMatch Orphanet:98918

[Term]
id: MONDO:0020350
name: obsolete Miller-Fisher syndrome
is_obsolete: true
replaced_by: MONDO:0005851

[Term]
id: MONDO:0020351
name: Blake pouch cyst
def: "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." [Orphanet:98922]
subset: ordo_morphological_anomaly {source="Orphanet:98922"}
xref: ICD10:Q03.1 {source="Orphanet:98922", source="ORDO:98922/ntbt"}
xref: Orphanet:98922 {source="MONDO:equivalentTo"}
is_a: MONDO:0020134 {source="Orphanet:98922"} ! cystic malformation of the posterior fossa
property_value: exactMatch Orphanet:98922

[Term]
id: MONDO:0020352
name: multiple system atrophy, parkinsonian type
def: "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." [Orphanet:98933]
subset: ordo_clinical_subtype {source="Orphanet:98933"}
synonym: "MSA, parkinsonian type" EXACT [Orphanet:98933]
synonym: "MSA-p" EXACT [Orphanet:98933]
xref: ICD10:G23.2 {source="ORDO:98933/e", source="Orphanet:98933", source="MONDO:directSiblingOf"}
xref: Orphanet:98933 {source="MONDO:equivalentTo"}
xref: UMLS:CN207200 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007803 {source="Orphanet:98933"} ! multiple system atrophy
is_a: MONDO:0017635 {source="Orphanet:98933"} ! parkinsonian syndrome due to neurodegenerative disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207200
property_value: exactMatch Orphanet:98933

[Term]
id: MONDO:0020353
name: von Hippel anomaly
subset: ordo_malformation_syndrome {source="Orphanet:98941"}
xref: ICD10:Q13.4 {source="Orphanet:98941", source="ORDO:98941/attributed", source="ORDO:98941/ntbt"}
xref: Orphanet:98941 {source="MONDO:equivalentTo"}
is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly (disease)
is_a: MONDO:0015218 {source="Orphanet:98941"} ! syndromic developmental defect of the eye
property_value: exactMatch Orphanet:98941

[Term]
id: MONDO:0020354
name: coloboma of choroid and retina
def: "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." [Orphanet:98942]
subset: ordo_morphological_anomaly {source="Orphanet:98942"}
synonym: "choroidal coloboma" RELATED [GARD:0001432]
synonym: "retinal coloboma" RELATED [GARD:0001432]
synonym: "retinochoroidal coloboma" RELATED [GARD:0001432]
xref: GARD:0001432 {source="MONDO:equivalentTo"}
xref: ICD10:Q14.8 {source="Orphanet:98942", source="ORDO:98942/attributed", source="ORDO:98942/ntbt"}
xref: Orphanet:98942 {source="MONDO:equivalentTo"}
xref: SCTID:39302008 {source="MONDO:equivalentTo"}
is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant
property_value: exactMatch http://identifiers.org/snomedct/39302008
property_value: exactMatch Orphanet:98942

[Term]
id: MONDO:0020355
name: coloboma of eye lens
subset: gard_rare {source="GARD:0001433"}
subset: ordo_morphological_anomaly {source="Orphanet:98943"}
xref: GARD:0001433 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.2 {source="ORDO:98943/specific", source="ORDO:98943/e", source="Orphanet:98943"}
xref: Orphanet:98943 {source="MONDO:equivalentTo"}
is_a: MONDO:0016023 {source="Orphanet:98943"} ! ocular coloboma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344516
property_value: exactMatch Orphanet:98943
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens xsd:anyURI {source="GARD:0001433"}

[Term]
id: MONDO:0020356
name: coloboma of iris (disease)
def: "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." [NCIT:C98879]
subset: ordo_morphological_anomaly {source="Orphanet:98944"}
synonym: "coloboma of iris" EXACT [MONDO:ambiguous]
synonym: "coloboma of the iris" EXACT [NCIT:C98879]
xref: GARD:0001434 {source="MONDO:equivalentTo"}
xref: HP:0000612 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q13.0 {source="ORDO:98944/e", source="ORDO:98944/specific", source="Orphanet:98944"}
xref: MedDRA:10052642 {source="ORDO:98944/e", source="Orphanet:98944"}
xref: NCIT:C98879 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:98944 {source="MONDO:equivalentTo"}
xref: SCTID:9446007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0240063
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266551
property_value: exactMatch http://identifiers.org/meddra/10052642
property_value: exactMatch http://identifiers.org/snomedct/9446007
property_value: exactMatch NCIT:C98879
property_value: exactMatch Orphanet:98944

[Term]
id: MONDO:0020357
name: coloboma of eyelid
def: "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." [NCIT:C98878]
subset: ordo_morphological_anomaly {source="Orphanet:98946"}
synonym: "coloboma of the eyelid" EXACT [NCIT:C98878]
xref: ICD10:Q10.3 {source="ORDO:98946/ntbt", source="Orphanet:98946", source="ORDO:98946/inclusion"}
xref: NCIT:C98878 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:98946 {source="MONDO:equivalentTo"}
xref: SCTID:95202004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0521573 {source="NCIT:C98878", source="ORDO:98946/e", source="MONDO:equivalentTo", source="Orphanet:98946"}
is_a: MONDO:0016023 {source="Orphanet:98946"} ! ocular coloboma
is_a: MONDO:0020155 {source="Orphanet:98946"} ! eyelid border anomaly
property_value: exactMatch http://identifiers.org/snomedct/95202004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521573
property_value: exactMatch NCIT:C98878
property_value: exactMatch Orphanet:98946

[Term]
id: MONDO:0020358
name: coloboma of optic disc
def: "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." [Orphanet:98947]
subset: ordo_morphological_anomaly {source="Orphanet:98947"}
synonym: "coloboma of optic papilla" EXACT [Orphanet:98947]
xref: COHD:437292 {source="MONDO:equivalentTo"}
xref: GARD:0001438 {source="MONDO:equivalentTo"}
xref: ICD10:Q14.2 {source="ORDO:98947/ntbt", source="Orphanet:98947", source="ORDO:98947/inclusion"}
xref: Orphanet:98947 {source="MONDO:equivalentTo"}
is_a: MONDO:0016023 {source="Orphanet:98947"} ! ocular coloboma
property_value: exactMatch Orphanet:98947

[Term]
id: MONDO:0020359
name: congenital symblepharon
subset: ordo_clinical_subtype {source="Orphanet:98948"}
xref: ICD10:Q11.2 {source="ORDO:98948/attributed", source="ORDO:98948/ntbt", source="Orphanet:98948"}
xref: Orphanet:98948 {source="MONDO:equivalentTo"}
is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152454
property_value: exactMatch Orphanet:98948

[Term]
id: MONDO:0020360
name: complete cryptophthalmia
subset: ordo_clinical_subtype {source="Orphanet:98949"}
xref: ICD10:Q11.2 {source="ORDO:98949/attributed", source="ORDO:98949/ntbt", source="Orphanet:98949"}
xref: Orphanet:98949 {source="MONDO:equivalentTo"}
is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia
property_value: exactMatch Orphanet:98949

[Term]
id: MONDO:0020361
name: partial cryptophthalmia
subset: ordo_clinical_subtype {source="Orphanet:98950"}
xref: ICD10:Q11.2 {source="Orphanet:98950", source="ORDO:98950/attributed", source="ORDO:98950/ntbt"}
xref: Orphanet:98950 {source="MONDO:equivalentTo"}
is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia
property_value: exactMatch Orphanet:98950

[Term]
id: MONDO:0020362
name: inverse Marcus-Gunn phenomenon
def: "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." [Orphanet:98951]
subset: ordo_clinical_subtype {source="Orphanet:98951"}
xref: ICD10:Q07.8 {source="Orphanet:98951", source="ORDO:98951/attributed", source="ORDO:98951/ntbt"}
xref: Orphanet:98951 {source="MONDO:equivalentTo"}
xref: UMLS:CN207213 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207213
property_value: exactMatch Orphanet:98951

[Term]
id: MONDO:0020363
name: honey-droplet corneal dystrophy
subset: ordo_disease {source="Orphanet:98958"}
xref: ICD10:H18.5 {source="ORDO:98958/ntbt", source="Orphanet:98958"}
xref: Orphanet:98958 {source="MONDO:equivalentTo"}
xref: UMLS:CN207218 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020212 ! superficial corneal dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207218
property_value: exactMatch Orphanet:98958

[Term]
id: MONDO:0020364
name: posterior polymorphous corneal dystrophy
def: "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." [Orphanet:98973]
subset: ordo_disease {source="Orphanet:98973"}
synonym: "corneal dystrophy, posterior polymorphous" EXACT [OMIMPS:122000]
synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [DOID:0060457]
synonym: "posterior polymorphous dystrophy" EXACT [Orphanet:98973]
synonym: "PPCD" EXACT [DOID:0060457, Orphanet:98973]
synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973]
xref: DOID:0060457 {source="MONDO:equivalentTo"}
xref: ICD10:H18.5 {source="Orphanet:98973", source="DOID:0060457", source="ORDO:98973/attributed", source="ORDO:98973/ntbt"}
xref: OMIMPS:122000 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: Orphanet:98973 {source="DOID:0060457", source="MONDO:equivalentTo"}
xref: UMLS:CN239252 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000766 {source="DOID:0060457"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="MONDOLEX:0020364", source="Orphanet:98973"} ! posterior corneal dystrophy
is_a: MONDO:0020221 {source="Orphanet:98973"} ! secondary glaucoma due to a proliferation and differentiation anomaly
property_value: closeMatch http://identifiers.org/mesh/C562745
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339284
property_value: exactMatch DOID:0060457
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN239252
property_value: exactMatch Orphanet:98973

[Term]
id: MONDO:0020365
name: congenital hereditary endothelial dystrophy type I
def: "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." [Orphanet:98975]
subset: ordo_disease {source="Orphanet:98975"}
synonym: "autosomal dominant CHED" EXACT [Orphanet:98975]
synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [Orphanet:98975]
synonym: "CHED1" EXACT [Orphanet:98975]
synonym: "CHEDI" EXACT [Orphanet:98975]
synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975]
xref: ICD10:H18.5 {source="Orphanet:98975", source="ORDO:98975/attributed", source="ORDO:98975/ntbt"}
xref: Orphanet:98975 {source="MONDO:equivalentTo"}
xref: SCTID:416633008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020214 {source="Orphanet:98975"} ! posterior corneal dystrophy
property_value: exactMatch http://identifiers.org/omim/121700
property_value: exactMatch http://identifiers.org/snomedct/416633008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562689
property_value: exactMatch Orphanet:98975

[Term]
id: MONDO:0020366
name: congenital glaucoma
def: "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." [Orphanet:98976]
comment: Editor note: check placement of subclasses
subset: ordo_disease {source="Orphanet:98976"}
synonym: "buphthalmia" EXACT [Orphanet:98976]
synonym: "buphthalmos" EXACT [Orphanet:98976]
synonym: "Buphthalmus" EXACT [Orphanet:98976]
synonym: "primary congenital glaucoma" EXACT [Orphanet:98976]
xref: GARD:0002485 {source="MONDO:equivalentTo"}
xref: ICD10:Q15.0 {source="ORDO:98976/specific", source="ORDO:98976/e", source="Orphanet:98976"}
xref: NCIT:C50648 {source="MONDO:equivalentTo"}
xref: Orphanet:98976 {source="MONDO:equivalentTo"}
xref: SCTID:204113001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.64/0.40"}
is_a: MONDO:0015485 {source="Orphanet:98976"} ! primary hereditary glaucoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020302
property_value: exactMatch http://identifiers.org/snomedct/204113001
property_value: exactMatch NCIT:C50648
property_value: exactMatch Orphanet:98976

[Term]
id: MONDO:0020367
name: juvenile open angle glaucoma
def: "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." [Orphanet:98977]
subset: ordo_disease {source="Orphanet:98977"}
synonym: "childhood glaucoma (disease)" EXACT []
synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "glaucoma of childhood" EXACT [DOID:1068, ICD9CM_2006:365.14]
synonym: "JOAG" EXACT []
synonym: "juvenile glaucoma" EXACT []
synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric glaucoma (disease)" RELATED [MONDO:patterns/childhood]
xref: COHD:433767 {source="MONDO:equivalentTo"}
xref: DOID:1068 {source="MONDO:equivalentTo"}
xref: ICD9:365.14 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10064032 {source="ORDO:98977/e", source="Orphanet:98977"}
xref: Orphanet:98977 {source="MONDO:equivalentTo"}
xref: SCTID:71111008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C2981140 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:98977"}
is_a: MONDO:0005338 {source="DOID:1068"} ! open-angle glaucoma
is_a: MONDO:0015485 {source="Orphanet:98977"} ! primary hereditary glaucoma
property_value: exactMatch DOID:1068
property_value: exactMatch http://identifiers.org/meddra/10064032
property_value: exactMatch http://identifiers.org/snomedct/71111008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2981140
property_value: exactMatch Orphanet:98977

[Term]
id: MONDO:0020368
name: Axenfeld anomaly
def: "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly (see this term) includes characteristic iris and pupil anomalies." [Orphanet:98978]
subset: ordo_morphological_anomaly {source="Orphanet:98978"}
xref: ICD10:Q15.0 {source="ORDO:98978/index", source="ORDO:98978/ntbt", source="Orphanet:98978"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10058653 {source="ORDO:98978/e", source="Orphanet:98978"}
xref: Orphanet:98978 {source="MONDO:equivalentTo"}
xref: SCTID:204152008 {source="MONDO:kboom-pr-0.90/0.76/0.54", source="MONDO:equivalentTo"}
is_a: MONDO:0020218 {source="Orphanet:98978"} ! goniodysgenesis
property_value: exactMatch http://identifiers.org/meddra/10058653
property_value: exactMatch http://identifiers.org/snomedct/204152008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266548
property_value: exactMatch Orphanet:98978

[Term]
id: MONDO:0020369
name: Chandler syndrome
def: "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." [Orphanet:98979]
subset: ordo_clinical_subtype {source="Orphanet:98979"}
synonym: "Chandler's syndrome" EXACT [DOID:11554, GARD:0006033]
synonym: "dystrophy of corneal endothelium" EXACT [DOID:11554]
synonym: "endothelial corneal dystrophy" EXACT [DOID:11554, ICD9CM_2006:371.57]
synonym: "posterior membrane corneal dystrophy" EXACT [DOID:11554]
xref: DOID:11554 {source="MONDO:equivalentTo"}
xref: GARD:0006033 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:H18.51 {source="DOID:11554"}
xref: ICD10:H21.2 {source="ORDO:98979/attributed", source="ORDO:98979/ntbt", source="Orphanet:98979"}
xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"}
xref: MedDRA:10057487 {source="ORDO:98979/e", source="Orphanet:98979"}
xref: Orphanet:98979 {source="MONDO:equivalentTo"}
xref: UMLS:C0544008 {source="ORDO:98979/e", source="MONDO:equivalentTo", source="Orphanet:98979", source="DOID:11554"}
is_a: MONDO:0018988 {source="Orphanet:98979"} ! iridocorneal endothelial syndrome
is_a: MONDO:0020215 ! syndromic corneal dystrophy
property_value: closeMatch http://identifiers.org/snomedct/16949007
property_value: closeMatch http://identifiers.org/snomedct/231935005
property_value: closeMatch http://identifiers.org/snomedct/392481002
property_value: closeMatch http://identifiers.org/snomedct/404632009
property_value: exactMatch DOID:11554
property_value: exactMatch http://identifiers.org/meddra/10057487
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0544008
property_value: exactMatch Orphanet:98979

[Term]
id: MONDO:0020370
name: Cogan-Reese syndrome
def: "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." [Orphanet:98980]
subset: gard_rare {source="GARD:0006125"}
subset: ordo_clinical_subtype {source="Orphanet:98980"}
xref: DOID:0060217 {source="MONDO:equivalentTo"}
xref: GARD:0006125 {source="MONDO:equivalentTo"}
xref: ICD10:H21.2 {source="ORDO:98980/attributed", source="ORDO:98980/ntbt", source="Orphanet:98980"}
xref: MedDRA:10059200 {source="DOID:0060217", source="ORDO:98980/e", source="Orphanet:98980"}
xref: NCIT:C84644 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:0060217"}
xref: Orphanet:98980 {source="MONDO:equivalentTo", source="DOID:0060217"}
xref: SCTID:404633004 {source="MONDO:equivalentTo", source="DOID:0060217", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1168173 {source="NCIT:C84644", source="MONDO:equivalentTo", source="DOID:0060217", source="ORDO:98980/e", source="Orphanet:98980"}
is_a: MONDO:0018988 {source="Orphanet:98980", source="linkedlifedata"} ! iridocorneal endothelial syndrome
property_value: closeMatch http://identifiers.org/snomedct/129624009
property_value: exactMatch DOID:0060217
property_value: exactMatch http://identifiers.org/meddra/10059200
property_value: exactMatch http://identifiers.org/snomedct/404633004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1168173
property_value: exactMatch NCIT:C84644
property_value: exactMatch Orphanet:98980
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome xsd:anyURI {source="GARD:0006125"}

[Term]
id: MONDO:0020371
name: essential iris atrophy
def: "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." [Orphanet:98981]
subset: ordo_clinical_subtype {source="Orphanet:98981"}
xref: ICD10:H21.2 {source="ORDO:98981/inclusion", source="ORDO:98981/ntbt", source="Orphanet:98981"}
xref: ICD9:364.51 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:98981 {source="MONDO:equivalentTo"}
xref: SCTID:25913001 {source="MONDO:kboom-pr-1.00/0.78/7.30", source="MONDO:equivalentTo"}
xref: UMLS:C0271111 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN207238 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018988 {source="Orphanet:98981", source="linkedlifedata"} ! iridocorneal endothelial syndrome
property_value: exactMatch http://identifiers.org/snomedct/25913001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271111
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207238
property_value: exactMatch Orphanet:98981

[Term]
id: MONDO:0020372
name: early-onset sutural cataract
subset: ordo_clinical_subtype {source="Orphanet:98985"}
synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [Orphanet:98985]
xref: ICD10:Q12.0 {source="Orphanet:98985", source="ORDO:98985/attributed", source="ORDO:98985/ntbt"}
xref: Orphanet:98985 {source="MONDO:equivalentTo"}
is_a: MONDO:0020379 {source="Orphanet:98985"} ! early-onset zonular cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854021
property_value: exactMatch Orphanet:98985

[Term]
id: MONDO:0020373
name: early-onset anterior polar cataract
subset: ordo_clinical_subtype {source="Orphanet:98988"}
synonym: "cataract anterior polar" RELATED [GARD:0001140]
synonym: "early-onset anterior subcapsular cataract" EXACT [Orphanet:98988]
xref: GARD:0001140 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q12.0 {source="Orphanet:98988", source="ORDO:98988/attributed", source="ORDO:98988/ntbt"}
xref: Orphanet:98988 {source="MONDO:equivalentTo"}
xref: UMLS:C1855179 {source="MEDGEN:kboom-pr98-c99", source="ORDO:98988/e", source="MONDO:equivalentTo", source="Orphanet:98988"}
is_a: MONDO:0020377 {source="Orphanet:98988"} ! early-onset partial cataract
property_value: exactMatch http://identifiers.org/mesh/C538282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1855179
property_value: exactMatch Orphanet:98988

[Term]
id: MONDO:0020374
name: cerulean cataract
def: "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." [Orphanet:98989]
subset: ordo_clinical_subtype {source="Orphanet:98989"}
synonym: "blue-dot cataract" EXACT [Orphanet:98989]
synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508]
synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508]
xref: GARD:0009508 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q12.0 {source="ORDO:98989/index", source="ORDO:98989/ntbt", source="Orphanet:98989"}
xref: ICD9:743.39 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537955 {source="ORDO:98989/e", source="MONDO:equivalentTo", source="Orphanet:98989"}
xref: Orphanet:98989 {source="MONDO:equivalentTo"}
xref: SCTID:204138006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.96"}
is_a: MONDO:0020377 {source="Orphanet:98989"} ! early-onset partial cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344523
property_value: exactMatch http://identifiers.org/mesh/C537955
property_value: exactMatch http://identifiers.org/snomedct/204138006
property_value: exactMatch Orphanet:98989

[Term]
id: MONDO:0020375
name: coralliform cataract
subset: ordo_clinical_subtype {source="Orphanet:98990"}
xref: ICD10:Q12.0 {source="ORDO:98990/attributed", source="ORDO:98990/ntbt", source="Orphanet:98990"}
xref: Orphanet:98990 {source="MONDO:equivalentTo"}
xref: UMLS:CN207246 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020377 {source="Orphanet:98990"} ! early-onset partial cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207246
property_value: exactMatch Orphanet:98990

[Term]
id: MONDO:0020376
name: early-onset nuclear cataract
subset: ordo_clinical_subtype {source="Orphanet:98991"}
xref: ICD10:Q12.0 {source="ORDO:98991/attributed", source="ORDO:98991/ntbt", source="Orphanet:98991"}
xref: MedDRA:10007759 {source="ORDO:98991/e", source="Orphanet:98991"}
xref: MedDRA:10057735 {source="ORDO:98991/e", source="Orphanet:98991"}
xref: MESH:C563333 {source="MONDO:equivalentTo"}
xref: Orphanet:98991 {source="MONDO:equivalentTo"}
xref: UMLS:CN207247 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract
property_value: exactMatch http://identifiers.org/meddra/10007759
property_value: exactMatch http://identifiers.org/meddra/10057735
property_value: exactMatch http://identifiers.org/mesh/C563333
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1112705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207247
property_value: exactMatch Orphanet:98991

[Term]
id: MONDO:0020377
name: early-onset partial cataract
subset: ordo_clinical_subtype {source="Orphanet:98992"}
xref: ICD10:Q12.0 {source="ORDO:98992/attributed", source="ORDO:98992/ntbt", source="Orphanet:98992"}
xref: Orphanet:98992 {source="MONDO:equivalentTo"}
xref: UMLS:CN207248 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic cataract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207248
property_value: exactMatch Orphanet:98992

[Term]
id: MONDO:0020378
name: early-onset posterior polar cataract
subset: ordo_clinical_subtype {source="Orphanet:98993"}
xref: ICD10:Q12.0 {source="Orphanet:98993", source="ORDO:98993/attributed", source="ORDO:98993/ntbt"}
xref: Orphanet:98993 {source="MONDO:equivalentTo"}
is_a: MONDO:0013411 ! cataract 16 multiple types
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0858617
property_value: exactMatch Orphanet:98993

[Term]
id: MONDO:0020379
name: early-onset zonular cataract
subset: gard_rare {source="GARD:0001898"}
subset: ordo_clinical_subtype {source="Orphanet:98995"}
xref: GARD:0001898 {source="MONDO:equivalentTo"}
xref: ICD10:Q12.0 {source="Orphanet:98995", source="ORDO:98995/attributed", source="ORDO:98995/ntbt"}
xref: Orphanet:98995 {source="MONDO:equivalentTo"}
xref: UMLS:CN207251 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020377 {source="Orphanet:98995"} ! early-onset partial cataract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266537
property_value: exactMatch http://identifiers.org/mesh/C535342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207251
property_value: exactMatch Orphanet:98995
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract xsd:anyURI {source="GARD:0001898"}

[Term]
id: MONDO:0020380
name: autosomal dominant cerebellar ataxia
def: "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy." [Orphanet:99]
subset: gard_rare
subset: ordo_group_of_disorders {source="Orphanet:99"}
synonym: "ADCA" EXACT [GARD:0004346, Orphanet:99]
synonym: "autosomal dominant spinocerebellar ataxia" EXACT [Orphanet:99]
synonym: "cerebellar ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Pierre Marie cerebellar ataxia (formerly)" RELATED [GARD:0004346]
synonym: "SCA" BROAD []
synonym: "spinocerebellar ataxia" BROAD [DOID:1441]
xref: DOID:1441 {source="MONDO:equivalentTo"}
xref: GARD:0004346 {source="MONDO:equivalentTo"}
xref: ICD10:G11.8 {source="Orphanet:99", source="ORDO:99/attributed", source="ORDO:99/ntbt"}
xref: ICD9:334.3 {source="DOID:1441", source="MONDO:relatedTo", source="i2s"}
xref: OMIMPS:164400 {source="MONDO:equivalentTo"}
xref: Orphanet:99 {source="MONDO:equivalentTo"}
xref: SCTID:129609000 {source="DOID:1441", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.76/4.01"}
xref: UMLS:CN227858 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000557 {source="DOID:1441", source="Orphanet:99"} ! hereditary ataxia
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020140 {source="Orphanet:99"} ! late-onset ataxia with dementia
is_a: MONDO:0020263 {source="Orphanet:99"} ! spinocerebellar ataxia with oculomotor anomaly
is_a: MONDO:0022687 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebellar degeneration
property_value: closeMatch http://identifiers.org/mesh/D020754
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029534
property_value: exactMatch DOID:1441
property_value: exactMatch http://identifiers.org/snomedct/129609000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227858
property_value: exactMatch Orphanet:99

[Term]
id: MONDO:0020381
name: patterned macular dystrophy
def: "Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99001]
subset: ordo_disease {source="Orphanet:99001"}
synonym: "butterfly-shaped pattern dystrophy" EXACT [Orphanet:99001]
synonym: "butterfly-shaped pigment dystrophy" RELATED [Orphanet:99001]
synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [Orphanet:99001]
synonym: "macular dystrophy, patterned" EXACT [OMIMPS:169150]
synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [DOID:0060863]
xref: DOID:0060863 {source="MONDO:equivalentTo"}
xref: ICD10:H35.5 {source="ORDO:99001/attributed", source="ORDO:99001/ntbt", source="MONDO:relatedTo", source="DOID:0060863", source="Orphanet:99001"}
xref: OMIMPS:169150 {source="MONDO:equivalentTo", source="DOID:0060863"}
xref: Orphanet:99001 {source="MONDO:equivalentTo", source="DOID:0060863"}
xref: SCTID:725590001 {source="MONDO:equivalentTo"}
xref: UMLS:C4511237 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:CN207254 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003004 {source="DOID:0060863"} ! macular degeneration
is_a: MONDO:0018973 {source="Orphanet:99001"} ! patterned dystrophy of the retinal pigment epithelium
property_value: exactMatch DOID:0060863
property_value: exactMatch http://identifiers.org/snomedct/725590001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207254
property_value: exactMatch Orphanet:99001

[Term]
id: MONDO:0020382
name: multifocal pattern dystrophy simulating fundus flavimaculatus
def: "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease (see this term), and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99003]
subset: ordo_disease {source="Orphanet:99003"}
synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003]
xref: ICD10:H35.5 {source="MONDO:relatedTo", source="ORDO:99003/attributed", source="ORDO:99003/ntbt", source="Orphanet:99003"}
xref: Orphanet:99003 {source="MONDO:equivalentTo"}
xref: SCTID:723408004 {source="MONDO:equivalentTo"}
xref: UMLS:CN207256 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018973 {source="Orphanet:99003"} ! patterned dystrophy of the retinal pigment epithelium
property_value: exactMatch http://identifiers.org/snomedct/723408004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207256
property_value: exactMatch Orphanet:99003

[Term]
id: MONDO:0020383
name: fundus pulverulentus
def: "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." [Orphanet:99004]
subset: ordo_disease {source="Orphanet:99004"}
xref: ICD10:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="ORDO:99004/attributed", source="ORDO:99004/ntbt"}
xref: Orphanet:99004 {source="MONDO:equivalentTo"}
xref: UMLS:CN207257 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018973 {source="Orphanet:99004"} ! patterned dystrophy of the retinal pigment epithelium
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207257
property_value: exactMatch Orphanet:99004

[Term]
id: MONDO:0020384
name: Niemann-Pick disease type E
def: "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." [Orphanet:99022]
subset: ordo_disease {source="Orphanet:99022"}
xref: ICD10:E75.2 {source="ORDO:99022/attributed", source="ORDO:99022/ntbt", source="Orphanet:99022"}
xref: Orphanet:99022 {source="MONDO:equivalentTo"}
xref: SCTID:73399005 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"}
is_a: MONDO:0001982 {source="MONDO:cjm", source="Orphanet:99022", source="linkedlifedata"} ! Niemann-Pick disease
property_value: exactMatch http://identifiers.org/snomedct/73399005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268248
property_value: exactMatch Orphanet:99022

[Term]
id: MONDO:0020385
name: congenitally uncorrected transposition of the great arteries with coarctation
subset: ordo_clinical_subtype {source="Orphanet:99042"}
synonym: "congenitally uncorrected transposition of the great vessels with coarctation" EXACT [Orphanet:99042]
synonym: "TGA with coarctation" EXACT [Orphanet:99042]
xref: ICD10:Q20.3 {source="ORDO:99042/attributed", source="ORDO:99042/ntbt", source="Orphanet:99042"}
xref: Orphanet:99042 {source="MONDO:equivalentTo"}
is_a: MONDO:0019443 {source="MONDOLEX:0020385", source="Orphanet:99042"} ! dextro-looped transposition of the great arteries
property_value: exactMatch Orphanet:99042

[Term]
id: MONDO:0020386
name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
subset: ordo_clinical_subtype {source="Orphanet:99043"}
synonym: "DORV with subaortic or doubly committed VSD with pulmonary stenosis" EXACT [Orphanet:99043]
synonym: "DORV, Fallot type" EXACT [Orphanet:99043]
synonym: "double outlet right ventricle, Fallot type" EXACT [Orphanet:99043]
xref: ICD10:Q20.1 {source="ORDO:99043/attributed", source="ORDO:99043/ntbt", source="Orphanet:99043"}
xref: ICD10:Q21.3 {source="ORDO:99043/attributed", source="ORDO:99043/ntbt", source="MONDO:relatedTo", source="Orphanet:99043"}
xref: Orphanet:99043 {source="MONDO:equivalentTo"}
xref: SCTID:253298003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0018089 {source="MONDOLEX:0020386", source="Orphanet:99043"} ! double outlet right ventricle
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1956411
property_value: exactMatch http://identifiers.org/snomedct/253298003
property_value: exactMatch Orphanet:99043

[Term]
id: MONDO:0020387
name: double outlet right ventricle with subpulmonary ventricular septal defect
subset: ordo_clinical_subtype {source="Orphanet:99045"}
synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045]
synonym: "DORV-TGA" EXACT [Orphanet:99045]
synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045]
synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045]
xref: ICD10:Q20.1 {source="ORDO:99045/attributed", source="ORDO:99045/ntbt", source="Orphanet:99045"}
xref: Orphanet:99045 {source="MONDO:equivalentTo"}
xref: SCTID:448794008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.72/0.08"}
xref: UMLS:CN207267 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018089 {source="MONDOLEX:0020387", source="Orphanet:99045"} ! double outlet right ventricle
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1956412
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1956413
property_value: exactMatch http://identifiers.org/snomedct/448794008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207267
property_value: exactMatch Orphanet:99045

[Term]
id: MONDO:0020388
name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect
subset: ordo_clinical_subtype {source="Orphanet:99046"}
synonym: "DORV with non-committed subpulmonary VSD" EXACT [Orphanet:99046]
xref: ICD10:Q20.1 {source="ORDO:99046/attributed", source="ORDO:99046/ntbt", source="Orphanet:99046"}
xref: Orphanet:99046 {source="MONDO:equivalentTo"}
is_a: MONDO:0018089 {source="MONDOLEX:0020388", source="Orphanet:99046"} ! double outlet right ventricle
property_value: exactMatch Orphanet:99046

[Term]
id: MONDO:0020389
name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome
subset: ordo_malformation_syndrome {source="Orphanet:99048"}
synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" EXACT [Orphanet:99048]
synonym: "APV/PDA, non-Fallot type" EXACT [Orphanet:99048]
synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [Orphanet:99048]
synonym: "PVA/PDA, non-Fallot type" EXACT [Orphanet:99048]
xref: ICD10:Q22.2 {source="Orphanet:99048", source="ORDO:99048/ntbt"}
xref: Orphanet:99048 {source="MONDO:equivalentTo"}
xref: UMLS:CN207270 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020064 {source="Orphanet:99048"} ! pulmonary valve agenesis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207270
property_value: exactMatch Orphanet:99048

[Term]
id: MONDO:0020390
name: pulmonary artery coming from patent ductus arteriosus
subset: ordo_morphological_anomaly {source="Orphanet:99049"}
xref: ICD10:Q25.7 {source="Orphanet:99049", source="ORDO:99049/ntbt"}
xref: Orphanet:99049 {source="MONDO:equivalentTo"}
is_a: MONDO:0015239 {source="Orphanet:99049"} ! abnormal origin of the pulmonary artery
property_value: exactMatch Orphanet:99049

[Term]
id: MONDO:0020391
name: pulmonary artery coming from the aorta
def: "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life." [Orphanet:99050]
subset: gard_rare {source="GARD:0004586"}
subset: ordo_morphological_anomaly {source="Orphanet:99050"}
synonym: "abnormal origin of right or left pulmonary artery from the aorta" EXACT [Orphanet:99050]
synonym: "hemitruncus arteriosus" EXACT [Orphanet:99050]
xref: GARD:0004586 {source="MONDO:equivalentTo"}
xref: ICD10:Q25.7 {source="ORDO:99050/ntbt", source="Orphanet:99050"}
xref: Orphanet:99050 {source="MONDO:equivalentTo"}
is_a: MONDO:0015239 {source="Orphanet:99050"} ! abnormal origin of the pulmonary artery
property_value: exactMatch Orphanet:99050
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta xsd:anyURI {source="GARD:0004586"}

[Term]
id: MONDO:0020392
name: discrete fixed membranous subaortic stenosis
subset: ordo_clinical_subtype {source="Orphanet:99051"}
xref: ICD10:Q24.4 {source="ORDO:99051/ntbt", source="Orphanet:99051"}
xref: Orphanet:99051 {source="MONDO:equivalentTo"}
is_a: MONDO:0017727 {source="Orphanet:99051"} ! fixed subaortic stenosis
property_value: exactMatch Orphanet:99051

[Term]
id: MONDO:0020393
name: discrete fibromuscular subaortic stenosis
subset: ordo_clinical_subtype {source="Orphanet:99052"}
xref: ICD10:Q24.4 {source="ORDO:99052/ntbt", source="Orphanet:99052"}
xref: Orphanet:99052 {source="MONDO:equivalentTo"}
is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis
property_value: exactMatch Orphanet:99052

[Term]
id: MONDO:0020394
name: tunnel subaortic stenosis
subset: ordo_clinical_subtype {source="Orphanet:99053"}
xref: ICD10:Q24.4 {source="ORDO:99053/ntbt", source="Orphanet:99053"}
xref: Orphanet:99053 {source="MONDO:equivalentTo"}
is_a: MONDO:0017727 {source="Orphanet:99053"} ! fixed subaortic stenosis
property_value: exactMatch Orphanet:99053

[Term]
id: MONDO:0020395
name: valvar pulmonary stenosis
def: "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." [ICD9:746.02]
subset: ordo_clinical_subtype {source="Orphanet:99054"}
xref: ICD10:Q22.1 {source="MONDO:subClassOf", source="ORDO:99054/ntbt", source="Orphanet:99054"}
xref: ICD9:746.02 {source="MONDO:equivalentTo"}
xref: MedDRA:10037450 {source="ORDO:99054/e", source="Orphanet:99054"}
xref: Orphanet:99054 {source="MONDO:equivalentTo"}
is_a: MONDO:0017865 {source="Orphanet:99054"} ! congenital pulmonary valve stenosis
property_value: exactMatch http://identifiers.org/meddra/10037450
property_value: exactMatch http://identifiers.org/mesh/D011666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034089
property_value: exactMatch Orphanet:99054

[Term]
id: MONDO:0020396
name: anomaly of the tricuspid valve chordae
def: "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." [Orphanet:99055]
subset: ordo_morphological_anomaly {source="Orphanet:99055"}
xref: ICD10:Q22.8 {source="ORDO:99055/ntbt", source="Orphanet:99055"}
xref: Orphanet:99055 {source="MONDO:equivalentTo"}
is_a: MONDO:0019816 {source="Orphanet:99055"} ! anomaly of the tricuspid subvalvular apparatus
property_value: exactMatch Orphanet:99055

[Term]
id: MONDO:0020397
name: parachute tricuspid valve
def: "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." [Orphanet:99056]
subset: ordo_morphological_anomaly {source="Orphanet:99056"}
xref: ICD10:Q22.8 {source="ORDO:99056/ntbt", source="Orphanet:99056"}
xref: Orphanet:99056 {source="MONDO:equivalentTo"}
is_a: MONDO:0019816 {source="Orphanet:99056"} ! anomaly of the tricuspid subvalvular apparatus
property_value: exactMatch Orphanet:99056

[Term]
id: MONDO:0020398
name: congenital mitral stenosis (disease)
def: "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure." [Orphanet:99057]
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:99057"}
synonym: "congenital mitral stenosis" EXACT [MONDO:ambiguous]
synonym: "congenital mitral valve stenosis" EXACT []
synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary]
xref: GARD:0001496 {source="MONDO:equivalentTo"}
xref: HP:0011570 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q23.2 {source="MONDO:equivalentTo", source="ORDO:99057/e", source="Orphanet:99057"}
xref: ICD9:746.5 {source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:99057 {source="MONDO:equivalentTo"}
xref: SCTID:82458004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.21"}
is_a: MONDO:0005852 ! mitral valve stenosis
is_a: MONDO:0019817 {source="ICD10:Q23.2", source="Orphanet:99057"} ! congenital mitral valve insufficiency and/or stenosis
is_a: MONDO:0042966 ! inherited mitral valve disease
intersection_of: MONDO:0005852 ! mitral valve stenosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158618
property_value: exactMatch http://identifiers.org/snomedct/82458004
property_value: exactMatch Orphanet:99057

[Term]
id: MONDO:0020399
name: congenital hypoplasia of the mitral valve annulus
def: "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." [Orphanet:99058]
subset: ordo_morphological_anomaly {source="Orphanet:99058"}
xref: ICD10:Q23.2 {source="MONDO:directSiblingOf", source="ORDO:99058/ntbt", source="Orphanet:99058"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99058 {source="MONDO:equivalentTo"}
xref: SCTID:449270002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C3165203 {source="MONDO:equivalentTo", source="ORDO:99058/e", source="Orphanet:99058"}
is_a: MONDO:0019817 {source="Orphanet:99058"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch http://identifiers.org/snomedct/449270002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165203
property_value: exactMatch Orphanet:99058

[Term]
id: MONDO:0020400
name: congenital supravalvular mitral ring
def: "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." [Orphanet:99059]
subset: ordo_morphological_anomaly {source="Orphanet:99059"}
xref: ICD10:Q23.2 {source="Orphanet:99059", source="MONDO:directSiblingOf", source="ORDO:99059/ntbt"}
xref: Orphanet:99059 {source="MONDO:equivalentTo"}
is_a: MONDO:0019817 {source="Orphanet:99059"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch Orphanet:99059

[Term]
id: MONDO:0020401
name: congenital unguarded mitral orifice
def: "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." [Orphanet:99060]
subset: ordo_morphological_anomaly {source="Orphanet:99060"}
xref: ICD10:Q23.3 {source="Orphanet:99060", source="ORDO:99060/ntbt"}
xref: Orphanet:99060 {source="MONDO:equivalentTo"}
is_a: MONDO:0019817 {source="Orphanet:99060"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch Orphanet:99060

[Term]
id: MONDO:0020402
name: congenital accessory mitral valve tissue
def: "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." [Orphanet:99061]
subset: ordo_morphological_anomaly {source="Orphanet:99061"}
xref: ICD10:Q23.8 {source="ORDO:99061/ntbt", source="Orphanet:99061"}
xref: Orphanet:99061 {source="MONDO:equivalentTo"}
is_a: MONDO:0019817 {source="Orphanet:99061"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch Orphanet:99061

[Term]
id: MONDO:0020403
name: congenital mitral valve agenesis
def: "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." [Orphanet:99062]
subset: ordo_morphological_anomaly {source="Orphanet:99062"}
xref: ICD10:Q23.3 {source="ORDO:99062/ntbt", source="Orphanet:99062"}
xref: Orphanet:99062 {source="MONDO:equivalentTo"}
is_a: MONDO:0019817 {source="Orphanet:99062"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch Orphanet:99062

[Term]
id: MONDO:0020404
name: shone complex
def: "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." [NCIT:C99058]
subset: ordo_malformation_syndrome {source="Orphanet:99063"}
synonym: "shone syndrome" EXACT [NCIT:C99058]
synonym: "shone's syndrome (greater than 3 sites)" EXACT [NCIT:C99058]
xref: ICD10:Q23.8 {source="ORDO:99063/ntbt", source="Orphanet:99063"}
xref: ICD9:746.84 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10066802 {source="ORDO:99063/e", source="Orphanet:99063"}
xref: NCIT:C99058 {source="MONDO:equivalentTo"}
xref: Orphanet:99063 {source="MONDO:equivalentTo"}
xref: SCTID:41371000119100 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C1868705 {source="MONDO:equivalentTo", source="ORDO:99063/e", source="Orphanet:99063"}
is_a: MONDO:0002254 {source="NCIT:C99058"} ! syndromic disease
is_a: MONDO:0019817 {source="Orphanet:99063"} ! congenital mitral valve insufficiency and/or stenosis
property_value: exactMatch http://identifiers.org/meddra/10066802
property_value: exactMatch http://identifiers.org/snomedct/41371000119100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868705
property_value: exactMatch NCIT:C99058
property_value: exactMatch Orphanet:99063

[Term]
id: MONDO:0020405
name: straddling and/or overriding mitral valve
subset: ordo_clinical_subtype {source="Orphanet:99064"}
xref: ICD10:Q23.8 {source="ORDO:99064/ntbt", source="Orphanet:99064"}
xref: Orphanet:99064 {source="MONDO:equivalentTo"}
is_a: MONDO:0019818 {source="Orphanet:99064"} ! cleft mitral valve
property_value: exactMatch Orphanet:99064

[Term]
id: MONDO:0020406
name: complete atrioventricular canal-left heart obstruction syndrome
subset: ordo_clinical_subtype {source="Orphanet:99066"}
synonym: "CAVC type A" EXACT [Orphanet:99066]
synonym: "CAVC-left heart obstruction syndrome" EXACT [Orphanet:99066]
synonym: "complete atrioventricular canal type A" EXACT [Orphanet:99066]
xref: ICD10:Q21.2 {source="ORDO:99066/attributed", source="ORDO:99066/ntbt", source="Orphanet:99066"}
xref: Orphanet:99066 {source="MONDO:equivalentTo"}
xref: UMLS:CN207278 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015273 {source="MONDOLEX:0020406", source="Orphanet:99066"} ! complete atrioventricular canal
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207278
property_value: exactMatch Orphanet:99066

[Term]
id: MONDO:0020407
name: complete atrioventricular canal-ventricle hypoplasia syndrome
subset: ordo_clinical_subtype {source="Orphanet:99067"}
synonym: "CAVC type B" EXACT [Orphanet:99067]
synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [Orphanet:99067]
synonym: "complete atrioventricular canal type B" EXACT [Orphanet:99067]
xref: ICD10:Q21.2 {source="ORDO:99067/attributed", source="ORDO:99067/ntbt", source="Orphanet:99067"}
xref: Orphanet:99067 {source="MONDO:equivalentTo"}
xref: UMLS:CN207279 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015273 {source="MONDOLEX:0020407", source="Orphanet:99067"} ! complete atrioventricular canal
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207279
property_value: exactMatch Orphanet:99067

[Term]
id: MONDO:0020408
name: complete atrioventricular canal-tetralogy of fallot syndrome
subset: ordo_clinical_subtype {source="Orphanet:99068"}
synonym: "CAVC type C" EXACT [Orphanet:99068]
synonym: "CAVC-Fallot tetralogy syndrome" EXACT [Orphanet:99068]
synonym: "complete atrioventricular canal type C" EXACT [Orphanet:99068]
xref: ICD10:Q21.2 {source="ORDO:99068/attributed", source="ORDO:99068/ntbt", source="Orphanet:99068"}
xref: Orphanet:99068 {source="MONDO:equivalentTo"}
xref: UMLS:CN207280 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0015273 {source="MONDOLEX:0020408", source="Orphanet:99068"} ! complete atrioventricular canal
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207280
property_value: exactMatch Orphanet:99068

[Term]
id: MONDO:0020409
name: univentricular heart with single atrio-ventricular valve
subset: ordo_clinical_subtype {source="Orphanet:99069"}
xref: ICD10:Q20.4 {source="ORDO:99069/ntbt", source="Orphanet:99069"}
xref: Orphanet:99069 {source="MONDO:equivalentTo"}
is_a: MONDO:0015451 {source="Orphanet:99069"} ! univentricular heart
property_value: exactMatch Orphanet:99069

[Term]
id: MONDO:0020410
name: aorto-right ventricular tunnel
subset: ordo_clinical_subtype {source="Orphanet:99070"}
xref: ICD10:Q20.8 {source="Orphanet:99070", source="ORDO:99070/ntbt"}
xref: Orphanet:99070 {source="MONDO:equivalentTo"}
is_a: MONDO:0018082 {source="Orphanet:99070"} ! aorto-ventricular tunnel (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345055
property_value: exactMatch Orphanet:99070

[Term]
id: MONDO:0020411
name: aorto-left ventricular tunnel
subset: ordo_clinical_subtype {source="Orphanet:99071"}
xref: ICD10:Q20.8 {source="Orphanet:99071", source="ORDO:99071/ntbt"}
xref: Orphanet:99071 {source="MONDO:equivalentTo"}
is_a: MONDO:0018082 {source="Orphanet:99071"} ! aorto-ventricular tunnel (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345054
property_value: exactMatch Orphanet:99071

[Term]
id: MONDO:0020412
name: congenital patent ductus arteriosus aneurysm
def: "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." [Orphanet:99072]
subset: ordo_morphological_anomaly {source="Orphanet:99072"}
xref: ICD10:Q25.8 {source="ORDO:99072/ntbt", source="Orphanet:99072"}
xref: Orphanet:99072 {source="MONDO:equivalentTo"}
xref: SCTID:763316006 {source="MONDO:equivalentTo"}
is_a: MONDO:0019822 {source="Orphanet:99072"} ! arterial duct anomaly
property_value: exactMatch http://identifiers.org/snomedct/763316006
property_value: exactMatch Orphanet:99072

[Term]
id: MONDO:0020413
name: encircling double aortic arch
def: "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." [Orphanet:99075]
subset: ordo_morphological_anomaly {source="Orphanet:99075"}
xref: ICD10:Q25.4 {source="ORDO:99075/ntbt", source="Orphanet:99075"}
xref: Orphanet:99075 {source="MONDO:equivalentTo"}
xref: SCTID:764521002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015236 {source="Orphanet:99075"} ! aortic arch defects
property_value: exactMatch http://identifiers.org/snomedct/764521002
property_value: exactMatch Orphanet:99075

[Term]
id: MONDO:0020414
name: persistent fifth aortic arch
subset: ordo_morphological_anomaly {source="Orphanet:99076"}
xref: ICD10:Q25.4 {source="ORDO:99076/ntbt", source="Orphanet:99076"}
xref: Orphanet:99076 {source="MONDO:equivalentTo"}
is_a: MONDO:0015236 {source="Orphanet:99076"} ! aortic arch defects
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345066
property_value: exactMatch Orphanet:99076

[Term]
id: MONDO:0020415
name: Kommerell diverticulum
def: "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." [Orphanet:99077]
subset: ordo_morphological_anomaly {source="Orphanet:99077"}
xref: ICD10:Q25.4 {source="ORDO:99077/ntbt", source="Orphanet:99077"}
xref: Orphanet:99077 {source="MONDO:equivalentTo"}
xref: SCTID:74561007 {source="MONDO:kboom-pr-1.00/0.80/8.69", source="MONDO:equivalentTo"}
is_a: MONDO:0015236 {source="Orphanet:99077"} ! aortic arch defects
property_value: exactMatch http://identifiers.org/snomedct/74561007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265885
property_value: exactMatch Orphanet:99077

[Term]
id: MONDO:0020416
name: Neuhauser anomaly
def: "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." [Orphanet:99078]
subset: ordo_morphological_anomaly {source="Orphanet:99078"}
xref: ICD10:Q25.4 {source="ORDO:99078/ntbt", source="Orphanet:99078"}
xref: Orphanet:99078 {source="MONDO:equivalentTo"}
xref: SCTID:766751007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015236 {source="Orphanet:99078"} ! aortic arch defects
property_value: exactMatch http://identifiers.org/snomedct/766751007
property_value: exactMatch Orphanet:99078

[Term]
id: MONDO:0020417
name: right aortic arch (disease)
def: "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." [NCIT:C103917]
subset: ordo_morphological_anomaly {source="Orphanet:99081"}
synonym: "right aortic arch" EXACT [MONDO:ambiguous]
xref: HP:0012020 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q25.4 {source="Orphanet:99081", source="ORDO:99081/ntbt"}
xref: MedDRA:10067407 {source="ORDO:99081/e", source="Orphanet:99081"}
xref: NCIT:C103917 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:99081 {source="MONDO:equivalentTo"}
xref: SCTID:111321007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0015236 {source="Orphanet:99081"} ! aortic arch defects
property_value: exactMatch http://identifiers.org/meddra/10067407
property_value: exactMatch http://identifiers.org/snomedct/111321007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035615
property_value: exactMatch NCIT:C103917
property_value: exactMatch Orphanet:99081

[Term]
id: MONDO:0020418
name: dysphagia lusoria
subset: ordo_morphological_anomaly {source="Orphanet:99082"}
xref: ICD10:Q25.4 {source="Orphanet:99082", source="ORDO:99082/ntbt"}
xref: ICD9:787.29 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99082 {source="MONDO:equivalentTo"}
xref: SCTID:231719009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0267073 {source="ORDO:99082/e", source="MONDO:equivalentTo", source="Orphanet:99082"}
is_a: MONDO:0015236 {source="Orphanet:99082"} ! aortic arch defects
property_value: exactMatch http://identifiers.org/snomedct/231719009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267073
property_value: exactMatch Orphanet:99082

[Term]
id: MONDO:0020419
name: pulmonary artery hypoplasia (disease)
subset: ordo_morphological_anomaly {source="Orphanet:99083"}
synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous]
xref: HP:0004971 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q25.7 {source="ORDO:99083/ntbt", source="Orphanet:99083"}
xref: Orphanet:99083 {source="MONDO:equivalentTo"}
xref: SCTID:54682008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.57"}
is_a: MONDO:0020287 {source="Orphanet:99083"} ! pulmonary artery or pulmonary branch anomaly
property_value: exactMatch http://identifiers.org/snomedct/54682008
property_value: exactMatch Orphanet:99083

[Term]
id: MONDO:0020420
name: pulmonary branch stenosis
def: "Narrowing of the lumen of the right or left pulmonary artery branch." [NCIT:C99144]
subset: ordo_morphological_anomaly {source="Orphanet:99084"}
synonym: "branch pulmonary artery stenosis" EXACT [Orphanet:99084]
synonym: "peripheral pulmonary stenosis" RELATED [Orphanet:99084]
synonym: "pulmonary artery stenosis, branch (not PPS)" EXACT [NCIT:C99144]
xref: ICD10:Q25.6 {source="ORDO:99084/e", source="Orphanet:99084"}
xref: NCIT:C99144 {source="MONDO:equivalentTo"}
xref: Orphanet:99084 {source="MONDO:equivalentTo"}
xref: UMLS:C2062889 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020287 {source="Orphanet:99084"} ! pulmonary artery or pulmonary branch anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2062889
property_value: exactMatch NCIT:C99144
property_value: exactMatch Orphanet:99084

[Term]
id: MONDO:0020421
name: coronary artery intramyocardial course
subset: ordo_morphological_anomaly {source="Orphanet:99085"}
xref: ICD10:Q24.5 {source="ORDO:99085/ntbt", source="Orphanet:99085"}
xref: Orphanet:99085 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99085"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch Orphanet:99085

[Term]
id: MONDO:0020422
name: aortopulmonary coronary arterial course
def: "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." [Orphanet:99086]
subset: ordo_morphological_anomaly {source="Orphanet:99086"}
xref: ICD10:Q24.5 {source="ORDO:99086/ntbt", source="Orphanet:99086"}
xref: Orphanet:99086 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99086"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch Orphanet:99086

[Term]
id: MONDO:0020423
name: stenosis or atrophy of the coronary ostium
subset: ordo_morphological_anomaly {source="Orphanet:99087"}
synonym: "coronary ostial stenosis or atresia" EXACT [Orphanet:99087]
synonym: "stenosis or atresia of the coronary ostium" RELATED [Orphanet:99087]
xref: ICD10:Q24.5 {source="ORDO:99087/ntbt", source="Orphanet:99087"}
xref: Orphanet:99087 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99087"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch Orphanet:99087

[Term]
id: MONDO:0020424
name: intramural coronary arterial course
def: "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death." [Orphanet:99088]
subset: ordo_morphological_anomaly {source="Orphanet:99088"}
xref: ICD10:Q24.5 {source="ORDO:99088/ntbt", source="Orphanet:99088"}
xref: Orphanet:99088 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99088"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345123
property_value: exactMatch Orphanet:99088

[Term]
id: MONDO:0020425
name: abnormal number of coronary ostia
subset: ordo_morphological_anomaly {source="Orphanet:99089"}
xref: ICD10:Q24.5 {source="ORDO:99089/ntbt", source="Orphanet:99089"}
xref: Orphanet:99089 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99089"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch Orphanet:99089

[Term]
id: MONDO:0020426
name: malposition of the coronary ostium
def: "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." [Orphanet:99090]
subset: ordo_morphological_anomaly {source="Orphanet:99090"}
xref: ICD10:Q24.5 {source="Orphanet:99090", source="ORDO:99090/ntbt"}
xref: Orphanet:99090 {source="MONDO:equivalentTo"}
is_a: MONDO:0019826 {source="Orphanet:99090"} ! abnormal origin or aberrant course of coronary artery
property_value: exactMatch Orphanet:99090

[Term]
id: MONDO:0020427
name: Laubry-Pezzi syndrome
def: "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." [Orphanet:99094]
subset: ordo_morphological_anomaly {source="Orphanet:99094"}
synonym: "ventricular septal defect with aortic insufficiency" EXACT [Orphanet:99094]
synonym: "VSD with aortic insufficiency" EXACT [Orphanet:99094]
xref: ICD10:Q21.0 {source="ORDO:99094/ntbt", source="Orphanet:99094"}
xref: Orphanet:99094 {source="MONDO:equivalentTo"}
xref: SCTID:764955006 {source="MONDO:equivalentTo"}
xref: UMLS:CN207292 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018771 {source="Orphanet:99094"} ! congenital anomaly of ventricular septum
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch http://identifiers.org/snomedct/764955006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207292
property_value: exactMatch Orphanet:99094

[Term]
id: MONDO:0020428
name: congenital Gerbode defect
subset: ordo_morphological_anomaly {source="Orphanet:99095"}
synonym: "Gerbode defect" EXACT [Orphanet:99095]
synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095]
xref: ICD10:Q21.0 {source="ORDO:99095/ntbt", source="Orphanet:99095"}
xref: Orphanet:99095 {source="MONDO:equivalentTo"}
xref: SCTID:204312002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.82"}
is_a: MONDO:0019512 {source="Orphanet:99095"} ! congenital heart malformation
property_value: exactMatch http://identifiers.org/snomedct/204312002
property_value: exactMatch Orphanet:99095

[Term]
id: MONDO:0020429
name: cor triatriatum dexter (disease)
subset: ordo_morphological_anomaly {source="Orphanet:99098"}
synonym: "cor triatriatum dexter" EXACT [MONDO:ambiguous]
synonym: "cor triatriatum dextrum" EXACT [Orphanet:99098]
synonym: "divided right atrium" EXACT [Orphanet:99098]
xref: GARD:0012483 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0011566 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q24.2 {source="ORDO:99098/ntbt", source="Orphanet:99098"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99098 {source="MONDO:equivalentTo"}
xref: SCTID:274947007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015450 {source="Orphanet:99098"} ! triatrial heart
property_value: exactMatch http://identifiers.org/snomedct/274947007
property_value: exactMatch Orphanet:99098

[Term]
id: MONDO:0020430
name: cor triatriatum sinister
def: "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." [https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister]
subset: gard_rare {source="GARD:0012484"}
subset: ordo_morphological_anomaly {source="Orphanet:99099"}
synonym: "cor triatriatum sinistrum" EXACT [Orphanet:99099]
synonym: "divided left atrium" EXACT [Orphanet:99099]
xref: GARD:0012484 {source="MONDO:equivalentTo"}
xref: ICD10:Q24.2 {source="ORDO:99099/ntbt", source="Orphanet:99099"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99099 {source="MONDO:equivalentTo"}
xref: SCTID:253353007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0015450 {source="Orphanet:99099"} ! triatrial heart
property_value: exactMatch http://identifiers.org/snomedct/253353007
property_value: exactMatch Orphanet:99099
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister xsd:anyURI {source="GARD:0012484"}

[Term]
id: MONDO:0020431
name: juxtaposition of the atrial appendages
def: "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." [Orphanet:99100]
subset: ordo_morphological_anomaly {source="Orphanet:99100"}
synonym: "juxtaposition of the atrial auricles" EXACT [Orphanet:99100]
xref: ICD10:Q20.8 {source="ORDO:99100/ntbt", source="Orphanet:99100"}
xref: Orphanet:99100 {source="MONDO:equivalentTo"}
is_a: MONDO:0019837 {source="Orphanet:99100"} ! atrial appendage anomaly
property_value: exactMatch Orphanet:99100

[Term]
id: MONDO:0020432
name: ectasia of the right atrial appendage
def: "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." [Orphanet:99101]
subset: ordo_morphological_anomaly {source="Orphanet:99101"}
synonym: "dilatation of the right atrial appendage" EXACT [Orphanet:99101]
synonym: "dilatation of the right atrial auricle" EXACT [Orphanet:99101]
synonym: "ectasia of the right atrial auricle" EXACT [Orphanet:99101]
xref: ICD10:Q20.8 {source="ORDO:99101/ntbt", source="Orphanet:99101"}
xref: Orphanet:99101 {source="MONDO:equivalentTo"}
is_a: MONDO:0019837 {source="Orphanet:99101"} ! atrial appendage anomaly
property_value: exactMatch Orphanet:99101

[Term]
id: MONDO:0020433
name: ectasia of the left appendage
def: "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." [Orphanet:99102]
subset: ordo_morphological_anomaly {source="Orphanet:99102"}
synonym: "dilatation of the left appendage" EXACT [Orphanet:99102]
synonym: "dilatation of the left atrial appendage" EXACT [Orphanet:99102]
synonym: "dilatation of the left auricle" EXACT [Orphanet:99102]
synonym: "ectasia of the left atrial appendage" RELATED [Orphanet:99102]
synonym: "ectasia of the left auricle" EXACT [Orphanet:99102]
xref: ICD10:Q20.8 {source="ORDO:99102/ntbt", source="Orphanet:99102"}
xref: Orphanet:99102 {source="MONDO:equivalentTo"}
is_a: MONDO:0019837 {source="Orphanet:99102"} ! atrial appendage anomaly
property_value: exactMatch Orphanet:99102

[Term]
id: MONDO:0020434
name: atrial septal defect, ostium secundum type
subset: ordo_clinical_subtype {source="Orphanet:99103"}
synonym: "ASD ostium secundum type" RELATED [GARD:0005865]
synonym: "ASD, ostium secundum type" EXACT [Orphanet:99103]
synonym: "osASD" RELATED [GARD:0005865]
synonym: "ostium secundum ASD" RELATED [GARD:0005865]
synonym: "ostium secundum atrial septal defect" RELATED [GARD:0005865]
xref: COHD:434467 {source="MONDO:equivalentTo"}
xref: GARD:0005865 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q21.1 {source="Orphanet:99103", source="ORDO:99103/inclusion", source="ORDO:99103/ntbt"}
xref: MedDRA:10031302 {source="Orphanet:99103", source="ORDO:99103/e"}
xref: MedDRA:10031303 {source="Orphanet:99103", source="ORDO:99103/e"}
xref: Orphanet:99103 {source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="MONDOLEX:0020434", source="Orphanet:99103"} ! atrial heart septal defect
property_value: exactMatch http://identifiers.org/meddra/10031302
property_value: exactMatch http://identifiers.org/meddra/10031303
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344724
property_value: exactMatch Orphanet:99103

[Term]
id: MONDO:0020435
name: atrial septal defect, coronary sinus type
subset: gard_rare
subset: ordo_clinical_subtype {source="Orphanet:99104"}
synonym: "ASD coronary sinus" RELATED [GARD:0010697]
synonym: "ASD, coronary sinus type" EXACT [Orphanet:99104]
synonym: "atrial septal defect coronary sinus" EXACT [MONDO:0022512]
synonym: "coronary sinus atrial septal defects" RELATED [GARD:0010697]
synonym: "unroofed coronary sinus" EXACT [Orphanet:99104]
xref: GARD:0010697 {source="MONDO:equivalentTo"}
xref: ICD10:Q21.1 {source="Orphanet:99104", source="ORDO:99104/inclusion", source="ORDO:99104/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99104 {source="MONDO:equivalentTo"}
xref: SCTID:40272001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.47/0.20"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0006664 {source="MONDOLEX:0020435", source="Orphanet:99104"} ! atrial heart septal defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344733
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2063331
property_value: exactMatch http://identifiers.org/snomedct/40272001
property_value: exactMatch Orphanet:99104
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus xsd:anyURI {source="GARD:0010697"}

[Term]
id: MONDO:0020436
name: atrial septal defect, sinus venosus type
subset: ordo_clinical_subtype {source="Orphanet:99105"}
synonym: "ASD, sinus venosus type" EXACT [Orphanet:99105]
synonym: "atrial septal defect sinus venosus" RELATED [GARD:0010696]
synonym: "sinus venosus ASD" RELATED [GARD:0010696]
synonym: "sinus venosus atrial septal defects" RELATED [GARD:0010696]
xref: GARD:0010696 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q21.1 {source="Orphanet:99105", source="ORDO:99105/inclusion", source="ORDO:99105/ntbt"}
xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="ORDO:99105/e"}
xref: Orphanet:99105 {source="MONDO:equivalentTo"}
xref: SCTID:95268002 {source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="MESH:C548009", source="MONDOLEX:0020436", source="Orphanet:99105"} ! atrial heart septal defect
property_value: exactMatch http://identifiers.org/mesh/C548009
property_value: exactMatch http://identifiers.org/snomedct/95268002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344730
property_value: exactMatch Orphanet:99105

[Term]
id: MONDO:0020437
name: atrial septal defect, ostium primum type
subset: ordo_clinical_subtype {source="Orphanet:99106"}
synonym: "ASD ostium primum type" RELATED [GARD:0010695]
synonym: "ASD, ostium primum type" EXACT [Orphanet:99106]
synonym: "atrial septal defect ostium primum" RELATED [GARD:0010695]
synonym: "ostium primum ASD" RELATED [GARD:0010695]
xref: GARD:0010695 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q21.2 {source="Orphanet:99106", source="ORDO:99106/inclusion", source="ORDO:99106/ntbt"}
xref: MESH:C548006 {source="ORDO:99106/e", source="Orphanet:99106", source="MONDO:equivalentTo"}
xref: Orphanet:99106 {source="MONDO:equivalentTo"}
is_a: MONDO:0006664 {source="MESH:C548006", source="MONDOLEX:0020437", source="Orphanet:99106"} ! atrial heart septal defect
property_value: exactMatch http://identifiers.org/mesh/C548006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0741296
property_value: exactMatch Orphanet:99106

[Term]
id: MONDO:0020438
name: atrial septal aneurysm
subset: ordo_morphological_anomaly {source="Orphanet:99107"}
xref: ICD10:Q21.1 {source="Orphanet:99107", source="ORDO:99107/ntbt"}
xref: Orphanet:99107 {source="MONDO:equivalentTo"}
xref: SCTID:95440004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0521533 {source="ORDO:99107/e", source="Orphanet:99107", source="MONDO:equivalentTo"}
is_a: MONDO:0020294 {source="Orphanet:99107"} ! atrial defect and interatrial communication
property_value: exactMatch http://identifiers.org/snomedct/95440004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521533
property_value: exactMatch Orphanet:99107

[Term]
id: MONDO:0020439
name: patent foramen ovale (disease)
def: "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." [NCIT:P378]
subset: ordo_morphological_anomaly {source="Orphanet:99108"}
synonym: "atrial septal defect within oval fossa" EXACT [DOID:13620]
synonym: "defect, patent or persistent, ostium secundum" EXACT [DOID:13620, MTHICD9_2006:745.5]
synonym: "foramen ovale patent" EXACT [CSP2005:0725-0467, DOID:13620]
synonym: "ostium secundum type atrial septal defect" EXACT [DOID:13620, ICD9CM_2006:745.5]
synonym: "patent foramen ovale" EXACT [MONDO:ambiguous]
synonym: "persistent ostium secundum" EXACT [DOID:13620]
xref: DOID:13620 {source="MONDO:equivalentTo"}
xref: HP:0001655 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q21.1 {source="Orphanet:99108", source="ORDO:99108/ntbt", source="DOID:13620"}
xref: MedDRA:10016982 {source="ORDO:99108/e", source="Orphanet:99108"}
xref: MESH:D054092 {source="ORDO:99108/e", source="Orphanet:99108", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:13620"}
xref: NCIT:C34619 {source="MONDO:equivalentTo", source="DOID:13620", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:99108 {source="MONDO:equivalentTo"}
xref: UMLS:C0016522 {source="NCIT:C34619", source="ORDO:99108/e", source="Orphanet:99108", source="MONDO:equivalentTo", source="DOID:13620"}
is_a: MONDO:0006664 {source="DOID:13620", source="MESH:D054092", source="MONDOLEX:0020439"} ! atrial heart septal defect
property_value: closeMatch http://identifiers.org/snomedct/156912004
property_value: closeMatch http://identifiers.org/snomedct/204317008
property_value: closeMatch http://identifiers.org/snomedct/268316001
property_value: closeMatch http://identifiers.org/snomedct/78902000
property_value: exactMatch DOID:13620
property_value: exactMatch http://identifiers.org/meddra/10016982
property_value: exactMatch http://identifiers.org/mesh/D054092
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016522
property_value: exactMatch NCIT:C34619
property_value: exactMatch Orphanet:99108

[Term]
id: MONDO:0020440
name: persistent left superior vena cava connecting to the left-sided atrium
def: "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." [Orphanet:99109]
subset: ordo_morphological_anomaly {source="Orphanet:99109"}
synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [Orphanet:99109]
synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [Orphanet:99109]
synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [Orphanet:99109]
xref: ICD10:Q26.1 {source="Orphanet:99109", source="ORDO:99109/ntbt"}
xref: Orphanet:99109 {source="MONDO:equivalentTo"}
is_a: MONDO:0019829 {source="Orphanet:99109"} ! congenital anomaly of superior vena cava
property_value: exactMatch Orphanet:99109

[Term]
id: MONDO:0020441
name: right superior vena cava connecting to left-sided atrium
def: "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." [Orphanet:99110]
subset: ordo_morphological_anomaly {source="Orphanet:99110"}
synonym: "right superior caval vein connecting to left-sided atrium" EXACT [Orphanet:99110]
synonym: "right SVC connecting to left-sided atrium" EXACT [Orphanet:99110]
xref: ICD10:Q26.8 {source="ORDO:99110/ntbt", source="Orphanet:99110"}
xref: Orphanet:99110 {source="MONDO:equivalentTo"}
is_a: MONDO:0019829 {source="Orphanet:99110"} ! congenital anomaly of superior vena cava
property_value: exactMatch Orphanet:99110

[Term]
id: MONDO:0020442
name: left superior vena cava persisting to left-sided atrium
subset: ordo_morphological_anomaly {source="Orphanet:99111"}
synonym: "left superior caval vein persisting to left-sided atrium" EXACT [Orphanet:99111]
synonym: "left SVC persisting to left-sided atrium" EXACT [Orphanet:99111]
xref: ICD10:Q26.1 {source="ORDO:99111/ntbt", source="Orphanet:99111"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99111 {source="MONDO:equivalentTo"}
xref: SCTID:445436005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
is_a: MONDO:0019829 {source="Orphanet:99111", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital anomaly of superior vena cava
property_value: exactMatch http://identifiers.org/snomedct/445436005
property_value: exactMatch Orphanet:99111

[Term]
id: MONDO:0020443
name: absence of innominate vein
def: "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." [Orphanet:99112]
subset: ordo_morphological_anomaly {source="Orphanet:99112"}
synonym: "absence of brachiocephalic vein" EXACT [Orphanet:99112]
xref: ICD10:Q26.8 {source="ORDO:99112/ntbt", source="Orphanet:99112"}
xref: Orphanet:99112 {source="MONDO:equivalentTo"}
is_a: MONDO:0019829 {source="Orphanet:99112"} ! congenital anomaly of superior vena cava
property_value: exactMatch Orphanet:99112

[Term]
id: MONDO:0020444
name: subaortic course of innominate vein
def: "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." [Orphanet:99113]
subset: ordo_morphological_anomaly {source="Orphanet:99113"}
synonym: "subaortic course of brachiocephalic vein" EXACT [Orphanet:99113]
xref: ICD10:Q26.8 {source="ORDO:99113/ntbt", source="Orphanet:99113"}
xref: Orphanet:99113 {source="MONDO:equivalentTo"}
xref: SCTID:766756002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019829 {source="Orphanet:99113"} ! congenital anomaly of superior vena cava
property_value: exactMatch http://identifiers.org/snomedct/766756002
property_value: exactMatch Orphanet:99113

[Term]
id: MONDO:0020445
name: agenesis of the superior vena cava
def: "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." [Orphanet:99114]
subset: ordo_morphological_anomaly {source="Orphanet:99114"}
synonym: "absence of the superior caval vein" EXACT [Orphanet:99114]
synonym: "absence of the superior vena cava" EXACT [Orphanet:99114]
synonym: "absence of the SVC" EXACT [Orphanet:99114]
synonym: "agenesis of the superior caval vein" EXACT [Orphanet:99114]
synonym: "agenesis of the SVC" EXACT [Orphanet:99114]
xref: ICD10:Q26.8 {source="Orphanet:99114", source="ORDO:99114/ntbt"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99114 {source="MONDO:equivalentTo"}
xref: SCTID:204464007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.68"}
is_a: MONDO:0019829 {source="Orphanet:99114"} ! congenital anomaly of superior vena cava
property_value: exactMatch http://identifiers.org/snomedct/204464007
property_value: exactMatch Orphanet:99114

[Term]
id: MONDO:0020446
name: coronary sinus stenosis
subset: ordo_morphological_anomaly {source="Orphanet:99117"}
xref: ICD10:Q21.1 {source="Orphanet:99117", source="ORDO:99117/ntbt"}
xref: Orphanet:99117 {source="MONDO:equivalentTo"}
is_a: MONDO:0019831 {source="Orphanet:99117"} ! congenital anomaly of the coronary sinus
property_value: exactMatch Orphanet:99117

[Term]
id: MONDO:0020447
name: coronary sinus atresia
subset: ordo_morphological_anomaly {source="Orphanet:99118"}
xref: ICD10:Q21.1 {source="Orphanet:99118", source="ORDO:99118/ntbt"}
xref: Orphanet:99118 {source="MONDO:equivalentTo"}
is_a: MONDO:0019831 {source="Orphanet:99118"} ! congenital anomaly of the coronary sinus
property_value: exactMatch Orphanet:99118

[Term]
id: MONDO:0020448
name: right inferior vena cava connecting to left-sided atrium
subset: ordo_morphological_anomaly {source="Orphanet:99119"}
synonym: "right inferior caval vein connecting to left-sided atrium" EXACT [Orphanet:99119]
synonym: "right IVC connecting to left-sided atrium" EXACT [Orphanet:99119]
xref: ICD10:Q26.8 {source="Orphanet:99119", source="ORDO:99119/ntbt"}
xref: Orphanet:99119 {source="MONDO:equivalentTo"}
is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferior vena cava
property_value: exactMatch Orphanet:99119

[Term]
id: MONDO:0020449
name: persistent eustachian valve
subset: ordo_morphological_anomaly {source="Orphanet:99120"}
xref: ICD10:Q26.8 {source="ORDO:99120/ntbt", source="Orphanet:99120"}
xref: Orphanet:99120 {source="MONDO:equivalentTo"}
is_a: MONDO:0019830 {source="Orphanet:99120"} ! congenital anomaly of the inferior vena cava
property_value: exactMatch Orphanet:99120

[Term]
id: MONDO:0020450
name: azygos continuation of the inferior vena cava
subset: ordo_morphological_anomaly {source="Orphanet:99121"}
synonym: "azygos continuation of the inferior caval vein" EXACT [Orphanet:99121]
synonym: "azygos continuation of the IVC" EXACT [Orphanet:99121]
xref: ICD10:Q26.8 {source="ORDO:99121/ntbt", source="Orphanet:99121"}
xref: Orphanet:99121 {source="MONDO:equivalentTo"}
is_a: MONDO:0019830 {source="Orphanet:99121"} ! congenital anomaly of the inferior vena cava
property_value: exactMatch Orphanet:99121

[Term]
id: MONDO:0020451
name: congenital stenosis of the inferior vena cava
subset: ordo_morphological_anomaly {source="Orphanet:99122"}
synonym: "congenital stenosis of the inferior caval vein" EXACT [Orphanet:99122]
synonym: "congenital stenosis of the IVC" EXACT [Orphanet:99122]
xref: ICD10:Q26.0 {source="ORDO:99122/ntbt", source="Orphanet:99122"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99122 {source="MONDO:equivalentTo"}
xref: SCTID:62335009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.65"}
is_a: MONDO:0019830 {source="Orphanet:99122"} ! congenital anomaly of the inferior vena cava
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0340757
property_value: exactMatch http://identifiers.org/snomedct/62335009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265934
property_value: exactMatch Orphanet:99122

[Term]
id: MONDO:0020452
name: inferior vena cava interruption
subset: ordo_morphological_anomaly {source="Orphanet:99123"}
synonym: "Inferior caval vein interruption" EXACT [Orphanet:99123]
synonym: "IVC interruption" EXACT [Orphanet:99123]
xref: ICD10:Q26.8 {source="ORDO:99123/ntbt", source="Orphanet:99123"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99123 {source="MONDO:equivalentTo"}
xref: SCTID:93031005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/10.23"}
is_a: MONDO:0019830 {source="Orphanet:99123", source="linkedlifedata"} ! congenital anomaly of the inferior vena cava
property_value: exactMatch http://identifiers.org/snomedct/93031005
property_value: exactMatch Orphanet:99123

[Term]
id: MONDO:0020453
name: congenital partial pulmonary venous return anomaly
def: "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." [Orphanet:99124]
subset: ordo_morphological_anomaly {source="Orphanet:99124"}
synonym: "Partial anomalous pulmonary Venous connection" EXACT [NCIT:C99004]
synonym: "Partial anomalous pulmonary Venous return" EXACT [NCIT:C99004]
xref: ICD10:Q26.3 {source="ORDO:99124/e", source="Orphanet:99124"}
xref: NCIT:C99004 {source="MONDO:equivalentTo"}
xref: Orphanet:99124 {source="MONDO:equivalentTo"}
xref: SCTID:68237008 {source="MONDO:equivalentTo"}
is_a: MONDO:0017705 {source="Orphanet:99124"} ! congenital pulmonary venous return anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158634
property_value: exactMatch http://identifiers.org/snomedct/68237008
property_value: exactMatch NCIT:C99004
property_value: exactMatch Orphanet:99124

[Term]
id: MONDO:0020454
name: congenital complete agenesis of pericardium
def: "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." [Orphanet:99129]
subset: ordo_morphological_anomaly {source="Orphanet:99129"}
xref: ICD10:Q24.8 {source="Orphanet:99129", source="ORDO:99129/ntbt"}
xref: Orphanet:99129 {source="MONDO:equivalentTo"}
is_a: MONDO:0017300 {source="Orphanet:99129"} ! congenital pericardium anomaly
property_value: exactMatch Orphanet:99129

[Term]
id: MONDO:0020455
name: congenital partial agenesis of pericardium
def: "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." [Orphanet:99130]
subset: ordo_morphological_anomaly {source="Orphanet:99130"}
xref: ICD10:Q24.8 {source="ORDO:99130/ntbt", source="Orphanet:99130"}
xref: Orphanet:99130 {source="MONDO:equivalentTo"}
is_a: MONDO:0017300 {source="Orphanet:99130"} ! congenital pericardium anomaly
property_value: exactMatch Orphanet:99130

[Term]
id: MONDO:0020456
name: pleuro-pericardial cyst
def: "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." [Orphanet:99131]
subset: ordo_morphological_anomaly {source="Orphanet:99131"}
xref: ICD10:Q24.8 {source="ORDO:99131/ntbt", source="Orphanet:99131"}
xref: Orphanet:99131 {source="MONDO:equivalentTo"}
is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly
property_value: exactMatch Orphanet:99131

[Term]
id: MONDO:0020457
name: 6-phosphogluconate dehydrogenase deficiency
subset: ordo_disease {source="Orphanet:99135"}
xref: ICD10:D55.1 {source="ORDO:99135/attributed", source="ORDO:99135/ntbt", source="Orphanet:99135"}
xref: Orphanet:99135 {source="MONDO:equivalentTo"}
is_a: MONDO:0020105 {source="Orphanet:99135"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
property_value: exactMatch Orphanet:99135

[Term]
id: MONDO:0020458
name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction
def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138]
subset: ordo_disease {source="Orphanet:99138"}
synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730]
xref: ICD10:D55.3 {source="Orphanet:99138", source="ORDO:99138/attributed", source="ORDO:99138/ntbt"}
xref: MESH:C566314 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:102730 {source="MONDO:equivalentTo"}
xref: Orphanet:99138 {source="MONDO:equivalentTo"}
xref: UMLS:C1863235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102730"}
xref: UMLS:CN207319 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0019236 {source="Orphanet:99138"} ! inborn disorder of purine metabolism
is_a: MONDO:0020107 {source="Orphanet:99138"} ! hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
property_value: exactMatch http://identifiers.org/mesh/C566314
property_value: exactMatch http://identifiers.org/omim/102730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1863235
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207319
property_value: exactMatch Orphanet:99138

[Term]
id: MONDO:0020459
name: unstable hemoglobin disease
subset: ordo_disease {source="Orphanet:99139"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99139 {source="MONDO:equivalentTo"}
xref: SCTID:18273004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0272006 {source="ORDO:99139/e", source="Orphanet:99139", source="MONDO:equivalentTo"}
is_a: MONDO:0019050 {source="Orphanet:99139", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch http://identifiers.org/snomedct/18273004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272006
property_value: exactMatch Orphanet:99139

[Term]
id: MONDO:0020460
name: acquired von willebrand syndrome
def: "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD; see this term) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." [Orphanet:99147]
subset: gard_rare {source="GARD:0005573"}
subset: ordo_disease {source="Orphanet:99147"}
synonym: "acquired von Willebrand disease" EXACT [Orphanet:99147]
synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired]
synonym: "acquired von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/acquired]
synonym: "AVWS" EXACT [DOID:0111146]
synonym: "Willebrand disease, acquired" RELATED [GARD:0005573]
xref: DOID:0111146 {source="MONDO:equivalentTo"}
xref: GARD:0005573 {source="MONDO:equivalentTo"}
xref: GARD:5573 {source="DOID:0111146"}
xref: ICD10:D68.4 {source="Orphanet:99147", source="ORDO:99147/ntbt"}
xref: MEDDRA:10069495 {source="DOID:0111146"}
xref: MedDRA:10069495 {source="Orphanet:99147", source="ORDO:99147/e"}
xref: Orphanet:99147 {source="MONDO:equivalentTo", source="DOID:0111146"}
xref: PMID:28028990 {source="DOID:0111146"}
xref: SCTID:234451005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.37", source="DOID:0111146"}
xref: UMLS:C0272362 {source="Orphanet:99147", source="MONDO:equivalentTo", source="DOID:0111146", source="ORDO:99147/e"}
is_a: MONDO:0015662 {source="Orphanet:99147"} ! hemorrhagic disorder due to an acquired coagulation factor defect
is_a: MONDO:0020599 ! acquired coagulation factor deficiency
is_a: MONDO:0024574 ! von Willebrand disease (hereditary or acquired)
intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired)
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: disease_shares_features_of MONDO:0019565 ! hereditary von Willebrand disease
property_value: closeMatch http://identifiers.org/snomedct/60078000
property_value: exactMatch DOID:0111146
property_value: exactMatch http://identifiers.org/meddra/10069495
property_value: exactMatch http://identifiers.org/snomedct/234451005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272362
property_value: exactMatch Orphanet:99147
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome xsd:anyURI {source="GARD:0005573"}

[Term]
id: MONDO:0020461
name: epiblepharon
subset: ordo_morphological_anomaly {source="Orphanet:99169"}
xref: ICD10:Q10.3 {source="Orphanet:99169", source="ORDO:99169/index", source="ORDO:99169/ntbt"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99169 {source="MONDO:equivalentTo"}
xref: SCTID:253212001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0020158 {source="Orphanet:99169"} ! eyelids malposition disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344503
property_value: exactMatch http://identifiers.org/snomedct/253212001
property_value: exactMatch Orphanet:99169

[Term]
id: MONDO:0020462
name: tarsal kink syndrome
def: "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." [Orphanet:99170]
subset: ordo_morphological_anomaly {source="Orphanet:99170"}
xref: Orphanet:99170 {source="MONDO:equivalentTo"}
xref: UMLS:CN207325 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020159 {source="Orphanet:99170"} ! congenital entropion
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207325
property_value: exactMatch Orphanet:99170

[Term]
id: MONDO:0020463
name: isolated congenital ectropion
def: "A congenital ectropion that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_morphological_anomaly {source="Orphanet:99171"}
synonym: "nonsyndromic congenital ectropion" EXACT [MONDO:patterns/isolated]
xref: ICD10:Q10.1 {source="MONDO:subClassOf", source="ORDO:99171/specific", source="ORDO:99171/e", source="Orphanet:99171"}
xref: Orphanet:99171 {source="MONDO:equivalentTo"}
is_a: MONDO:0020161 {source="MONDO:Redundant", source="MONDOLEX:0020463", source="Orphanet:99171"} ! congenital ectropion
intersection_of: MONDO:0020161 ! congenital ectropion
intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:99171

[Term]
id: MONDO:0020464
name: euryblepharon
def: "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." [Orphanet:99172]
subset: ordo_morphological_anomaly {source="Orphanet:99172"}
xref: ICD10:Q10.1 {source="MONDO:subClassOf", source="ORDO:99172/attributed", source="ORDO:99172/ntbt", source="Orphanet:99172"}
xref: Orphanet:99172 {source="MONDO:equivalentTo"}
xref: SCTID:400954002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:CN207327 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020161 {source="Orphanet:99172"} ! congenital ectropion
property_value: exactMatch http://identifiers.org/snomedct/400954002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207327
property_value: exactMatch Orphanet:99172

[Term]
id: MONDO:0020465
name: congenital eyelid retraction
def: "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." [Orphanet:99176]
comment: Editor note: check ORDO classification
subset: ordo_morphological_anomaly {source="Orphanet:99176"}
xref: ICD10:Q10.3 {source="ORDO:99176/attributed", source="ORDO:99176/ntbt", source="Orphanet:99176"}
xref: Orphanet:99176 {source="MONDO:equivalentTo"}
xref: SCTID:715769008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
is_a: MONDO:0020170 {source="Orphanet:99176"} ! congenital upper palpebral retraction
property_value: exactMatch http://identifiers.org/snomedct/715769008
property_value: exactMatch Orphanet:99176

[Term]
id: MONDO:0020466
name: monosomy X
subset: ordo_etiological_subtype {source="Orphanet:99226"}
synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226]
xref: ICD10:Q96.9 {source="Orphanet:99226", source="ORDO:99226/index", source="ORDO:99226/ntbt"}
xref: NCIT:C36630 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:kboom-pr-0.92/0.82/0.54"}
xref: Orphanet:99226 {source="MONDO:equivalentTo"}
xref: SCTID:710008008 {source="MONDO:kboom-pr-0.89/0.76/0.23", source="MONDO:equivalentTo"}
xref: UMLS:CN776902 {source="MONDO:equivalentTo"}
is_a: MONDO:0019499 {source="MONDOLEX:0020466", source="Orphanet:99226", source="linkedlifedata"} ! Turner syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242526
property_value: exactMatch http://identifiers.org/snomedct/710008008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776902
property_value: exactMatch NCIT:C36630
property_value: exactMatch Orphanet:99226

[Term]
id: MONDO:0020467
name: mosaic monosomy X
comment: Editor note: add qualifier for mosaicism
subset: ordo_etiological_subtype {source="Orphanet:99228"}
synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228]
synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084]
synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084]
xref: ICD10:Q96.3 {source="ORDO:99228/specific", source="Orphanet:99228", source="ORDO:99228/btnt"}
xref: ICD10:Q96.4 {source="ORDO:99228/specific", source="Orphanet:99228", source="ORDO:99228/btnt"}
xref: Orphanet:99228 {source="MONDO:equivalentTo"}
xref: SCTID:710010005 {source="MONDO:equivalentTo"}
xref: UMLS:C4040907 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:CN776903 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019499 {source="MONDOLEX:0020467", source="Orphanet:99228", source="linkedlifedata"} ! Turner syndrome
property_value: exactMatch http://identifiers.org/snomedct/710010005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4040907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776903
property_value: exactMatch Orphanet:99228

[Term]
id: MONDO:0020468
name: paternal uniparental disomy of chromosome 13
def: "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:99324]
subset: ordo_malformation_syndrome {source="Orphanet:99324"}
synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324]
synonym: "UPD(13)pat" EXACT [Orphanet:99324]
xref: ICD10:Q99.8 {source="Orphanet:99324", source="ORDO:99324/attributed", source="ORDO:99324/ntbt"}
xref: Orphanet:99324 {source="MONDO:equivalentTo"}
is_a: MONDO:0020057 {source="Orphanet:99324"} ! uniparental disomy of paternal origin
property_value: exactMatch Orphanet:99324

[Term]
id: MONDO:0020469
name: 48,XYYY syndrome
def: "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." [Orphanet:99329]
subset: ordo_malformation_syndrome {source="Orphanet:99329"}
synonym: "48,XYYY" RELATED [GARD:0011985]
xref: GARD:0011985 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q98.8 {source="Orphanet:99329", source="ORDO:99329/attributed", source="ORDO:99329/ntbt"}
xref: Orphanet:99329 {source="MONDO:equivalentTo"}
xref: SCTID:733625003 {source="MONDO:equivalentTo"}
xref: UMLS:C4518082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN207331 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015620 {source="Orphanet:99329"} ! syndromic urogenital tract malformation
is_a: MONDO:0017005 {source="Orphanet:99329"} ! Y chromosome number anomaly
is_a: MONDO:0017143 ! genetic infertility
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020090 {source="Orphanet:99329"} ! male infertility due to gonadal dysgenesis
property_value: exactMatch http://identifiers.org/snomedct/733625003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518082
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207331
property_value: exactMatch Orphanet:99329

[Term]
id: MONDO:0020470
name: 49,XYYYY syndrome
def: "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." [Orphanet:99330]
subset: ordo_malformation_syndrome {source="Orphanet:99330"}
xref: ICD10:Q98.8 {source="ORDO:99330/attributed", source="ORDO:99330/ntbt", source="Orphanet:99330"}
xref: Orphanet:99330 {source="MONDO:equivalentTo"}
xref: SCTID:734028007 {source="MONDO:equivalentTo"}
xref: UMLS:C4518342 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN207332 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017005 {source="Orphanet:99330"} ! Y chromosome number anomaly
is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:99330"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch http://identifiers.org/snomedct/734028007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518342
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207332
property_value: exactMatch Orphanet:99330

[Term]
id: MONDO:0020471
name: obsolete pituitary adenoma
is_obsolete: true
replaced_by: MONDO:0006373

[Term]
id: MONDO:0020472
name: Turner syndrome due to structural X chromosome anomalies
subset: ordo_etiological_subtype {source="Orphanet:99413"}
xref: ICD10:Q96.1 {source="Orphanet:99413", source="ORDO:99413/specific", source="ORDO:99413/btnt"}
xref: ICD10:Q96.2 {source="Orphanet:99413", source="ORDO:99413/specific", source="ORDO:99413/btnt"}
xref: Orphanet:99413 {source="MONDO:equivalentTo"}
xref: UMLS:CN207336 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019499 {source="MONDOLEX:0020472", source="Orphanet:99413"} ! Turner syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207336
property_value: exactMatch Orphanet:99413

[Term]
id: MONDO:0020473
name: dappled diaphyseal dysplasia
subset: ordo_disease {source="Orphanet:99645"}
xref: ICD10:Q77.3 {source="MONDO:subClassOf", source="Orphanet:99645", source="ORDO:99645/attributed", source="ORDO:99645/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99645 {source="MONDO:equivalentTo"}
xref: SCTID:389262009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1300227 {source="ORDO:99645/e", source="Orphanet:99645", source="MONDO:equivalentTo"}
is_a: MONDO:0019701 {source="Orphanet:99645"} ! chondrodysplasia punctata
property_value: exactMatch http://identifiers.org/snomedct/389262009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300227
property_value: exactMatch Orphanet:99645

[Term]
id: MONDO:0020474
name: cheirospondyloenchondromatosis
def: "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." [Orphanet:99647]
subset: ordo_disease {source="Orphanet:99647"}
synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647]
xref: Orphanet:99647 {source="MONDO:equivalentTo"}
xref: SCTID:725104005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510810 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019708 {source="Orphanet:99647"} ! primary bone dysplasia with disorganized development of skeletal components
property_value: exactMatch http://identifiers.org/snomedct/725104005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4510810
property_value: exactMatch Orphanet:99647

[Term]
id: MONDO:0020475
name: dermotrichic syndrome
comment: Editor note: See PMID:1456297
subset: ordo_malformation_syndrome {source="Orphanet:99688"}
xref: Orphanet:99688 {source="MONDO:equivalentTo"}
xref: UMLS:CN207344 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="Orphanet:99688"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207344
property_value: exactMatch Orphanet:99688

[Term]
id: MONDO:0020476
name: mesial temporal lobe epilepsy with hippocampal sclerosis
def: "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." [Orphanet:99701]
subset: ordo_disease {source="Orphanet:99701"}
synonym: "MTLE-HS" EXACT [Orphanet:99701]
xref: Orphanet:99701 {source="MONDO:equivalentTo"}
is_a: MONDO:0017704 {source="Orphanet:99701"} ! familial partial epilepsy
property_value: exactMatch Orphanet:99701

[Term]
id: MONDO:0020477
name: progeria-associated arthropathy
subset: ordo_disease {source="Orphanet:99706"}
xref: Orphanet:99706 {source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="Orphanet:99706"} ! rheumatologic disorder
is_a: MONDO:0017133 {source="Orphanet:99706"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: exactMatch Orphanet:99706

[Term]
id: MONDO:0020478
name: Leber plus disease
def: "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." [Orphanet:99718]
subset: ordo_disease {source="Orphanet:99718"}
synonym: "LHON plus disease" EXACT [Orphanet:99718]
xref: ICD10:H47.2 {source="MONDO:relatedTo", source="ORDO:99718/attributed", source="ORDO:99718/ntbt", source="Orphanet:99718"}
xref: Orphanet:99718 {source="MONDO:equivalentTo"}
xref: SCTID:719430008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4304725 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN207347 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016327 {source="Orphanet:99718"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016335 {source="Orphanet:99718"} ! mitochondrial disease with dilated cardiomyopathy
is_a: MONDO:0016793 {source="Orphanet:99718"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
is_a: MONDO:0020249 {source="Orphanet:99718"} ! hereditary optic neuropathy
is_a: MONDO:0020265 {source="Orphanet:99718"} ! mitochondrial disease with eye involvement
property_value: exactMatch http://identifiers.org/snomedct/719430008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304725
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207347
property_value: exactMatch Orphanet:99718

[Term]
id: MONDO:0020479
name: pituitary gigantism
def: "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." [MESH:D005877]
subset: ordo_disease {source="Orphanet:99725"}
synonym: "gigantism" RELATED [GARD:0006506]
synonym: "hypophyseal gigantism" EXACT [Orphanet:99725]
synonym: "infantile and juvenile forms of acromegaly" EXACT [Orphanet:99725]
xref: GARD:0006506 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E22.0 {source="ORDO:99725/e", source="Orphanet:99725"}
xref: MedDRA:10018265 {source="ORDO:99725/e", source="Orphanet:99725"}
xref: MESH:D005877 {source="ORDO:99725/e", source="MONDO:equivalentTo", source="Orphanet:99725", source="MONDO:ontobio"}
xref: Orphanet:99725 {source="MONDO:equivalentTo"}
xref: SCTID:86073008 {source="MONDO:kboom-pr-1.00/0.78/6.85", source="MONDO:equivalentTo"}
is_a: MONDO:0006793 {source="MESH:D005877", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hyperpituitarism
is_a: MONDO:0019927 {source="Orphanet:99725"} ! growth hormone-producing pituitary gland neoplasm
property_value: exactMatch http://identifiers.org/meddra/10018265
property_value: exactMatch http://identifiers.org/mesh/D005877
property_value: exactMatch http://identifiers.org/snomedct/86073008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017547
property_value: exactMatch Orphanet:99725

[Term]
id: MONDO:0020480
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency
comment: Editor note: DO class is more general
subset: ordo_clinical_subtype {source="Orphanet:99732"}
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, Orphanet:99732]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" RELATED [GARD:0003705]
synonym: "MOCOD" EXACT [DOID:0111165, Orphanet:99732]
synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150]
xref: DOID:0111165 {source="MONDO:equivalentTo"}
xref: GARD:0003705 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:E72.1 {source="Orphanet:99732", source="DOID:0111165", source="ORDO:99732/attributed", source="ORDO:99732/ntbt"}
xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"}
xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"}
is_a: MONDO:0004689 {source="DOID:0111165"} ! inborn metal metabolism disorder
is_a: MONDO:0017760 {source="Orphanet:99732"} ! disorder of other vitamins and cofactors metabolism and transport
is_a: MONDO:0019358 {source="Orphanet:99732"} ! encephalopathy due to sulfite oxidase deficiency
property_value: exactMatch DOID:0111165
property_value: exactMatch Orphanet:99732

[Term]
id: MONDO:0020481
name: myotonia fluctuans
def: "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." [Orphanet:99734]
subset: ordo_disease {source="Orphanet:99734"}
synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734]
synonym: "Fluctuating myotonia" EXACT [Orphanet:99734]
synonym: "MF" EXACT [NCIT:C122789]
xref: ICD10:G71.1 {source="Orphanet:99734", source="ORDO:99734/attributed", source="ORDO:99734/ntbt"}
xref: NCIT:C122789 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.79/0.06"}
xref: Orphanet:99734 {source="MONDO:equivalentTo"}
xref: SCTID:715788001 {source="MONDO:equivalentTo"}
xref: UMLS:C0752355 {source="ORDO:99734/e", source="Orphanet:99734", source="MONDO:equivalentTo", source="NCIT:C122789"}
is_a: MONDO:0018959 {source="MONDO:Redundant", source="NCIT:C122789", source="Orphanet:99734", source="indirect"} ! potassium-aggravated myotonia
property_value: exactMatch http://identifiers.org/snomedct/715788001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0752355
property_value: exactMatch NCIT:C122789
property_value: exactMatch Orphanet:99734

[Term]
id: MONDO:0020482
name: myotonia permanens
def: "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." [Orphanet:99735]
subset: ordo_disease {source="Orphanet:99735"}
xref: ICD10:G71.1 {source="Orphanet:99735", source="ORDO:99735/attributed", source="ORDO:99735/ntbt"}
xref: Orphanet:99735 {source="MONDO:equivalentTo"}
xref: SCTID:715789009 {source="MONDO:equivalentTo"}
xref: UMLS:CN207354 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018959 ! potassium-aggravated myotonia
property_value: exactMatch http://identifiers.org/snomedct/715789009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207354
property_value: exactMatch Orphanet:99735

[Term]
id: MONDO:0020483
name: acetazolamide-responsive myotonia
def: "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." [Orphanet:99736]
subset: ordo_disease {source="Orphanet:99736"}
synonym: "Acetazolamide-responsive congenital myotonia" EXACT [Orphanet:99736]
synonym: "ACZ-responsive congenital myotonia" EXACT [Orphanet:99736]
synonym: "ACZ-responsive myotonia" EXACT [Orphanet:99736]
synonym: "myotonia-painful contractions syndrome" EXACT [Orphanet:99736]
synonym: "painful congenital myotonia" EXACT [Orphanet:99736]
synonym: "painful myotonia" EXACT [Orphanet:99736]
xref: ICD10:G71.1 {source="Orphanet:99736", source="ORDO:99736/attributed", source="ORDO:99736/ntbt"}
xref: Orphanet:99736 {source="MONDO:equivalentTo"}
xref: SCTID:715793003 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"}
is_a: MONDO:0018959 {source="MONDO:Redundant", source="Orphanet:99736"} ! potassium-aggravated myotonia
property_value: exactMatch http://identifiers.org/snomedct/715793003
property_value: exactMatch Orphanet:99736

[Term]
id: MONDO:0020484
name: rare familial disorder with hypertrophic cardiomyopathy
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:99739"}
synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739]
synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739]
xref: Orphanet:99739 {source="MONDO:equivalentTo"}
is_a: MONDO:0005045 {source="Orphanet:99739"} ! hypertrophic cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/D024741
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949658
property_value: exactMatch Orphanet:99739
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0020485
name: King-Denborough syndrome
def: "King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." [Orphanet:99741]
subset: gard_rare
subset: ordo_malformation_syndrome {source="Orphanet:99741"}
synonym: "anesthetic-induced malignant hyperpyrexia in children" RELATED [GARD:0008433]
synonym: "King Denborough syndrome" RELATED [GARD:0008433]
synonym: "Koussef-Nichols syndrome" EXACT [Orphanet:99741]
synonym: "Kousseff Nichols syndrome" RELATED [GARD:0008561]
synonym: "Noonan like contracture myopathy hyperpyrexia" RELATED [GARD:0008561, MESH:C537504]
xref: GARD:0008433 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0008561 {source="MONDO:equivalentTo"}
xref: ICD10:G71.2 {source="Orphanet:99741", source="ORDO:99741/attributed", source="ORDO:99741/ntbt"}
xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="ORDO:99741/e"}
xref: MESH:C537504 {source="MONDO:equivalentTo"}
xref: Orphanet:99741 {source="MONDO:equivalentTo"}
xref: SCTID:764957003 {source="MONDO:equivalentTo"}
is_a: MONDO:0015218 {source="Orphanet:99741"} ! syndromic developmental defect of the eye
is_a: MONDO:0015329 {source="Orphanet:99741"} ! malformation syndrome with short stature
is_a: MONDO:0018753 {source="Orphanet:99741"} ! rare disease with malignant hyperthermia
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0043007 {source="Orphanet:99741"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0100150 ! RYR1-related myopathy
relationship: disease_shares_features_of MONDO:0018997 {source="MESH:C537504-modified"} ! Noonan syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931510
property_value: exactMatch http://identifiers.org/mesh/C536883
property_value: exactMatch http://identifiers.org/mesh/C537504
property_value: exactMatch http://identifiers.org/snomedct/764957003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840365
property_value: exactMatch Orphanet:99741
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome xsd:anyURI {source="GARD:0008561"}

[Term]
id: MONDO:0020487
name: Pontiac fever
def: "Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." [Orphanet:99748]
subset: ordo_clinical_subtype {source="Orphanet:99748"}
xref: DOID:0050150 {source="MONDO:equivalentTo"}
xref: ICD10:A48.2 {source="ORDO:99748/e", source="Orphanet:99748"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10054161 {source="ORDO:99748/e", source="Orphanet:99748"}
xref: NCIT:C128335 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:99748 {source="MONDO:equivalentTo"}
xref: SCTID:240447002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0343528 {source="ORDO:99748/e", source="MONDO:equivalentTo", source="Orphanet:99748", source="NCIT:C128335"}
is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748", source="linkedlifedata", source="linkedlifedata/inferred"} ! legionellosis
property_value: exactMatch DOID:0050150
property_value: exactMatch http://identifiers.org/meddra/10054161
property_value: exactMatch http://identifiers.org/snomedct/240447002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343528
property_value: exactMatch NCIT:C128335
property_value: exactMatch Orphanet:99748

[Term]
id: MONDO:0020488
name: atypical progressive supranuclear palsy syndrome
def: "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." [Orphanet:99750]
subset: ordo_clinical_subtype {source="Orphanet:99750"}
synonym: "atypical PSP syndrome" EXACT [Orphanet:99750]
xref: ICD10:G23.1 {source="ORDO:99750/attributed", source="ORDO:99750/ntbt", source="Orphanet:99750"}
xref: Orphanet:99750 {source="MONDO:equivalentTo"}
is_a: MONDO:0019037 {source="MONDOLEX:0020488", source="Orphanet:99750"} ! progressive supranuclear palsy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850077
property_value: exactMatch Orphanet:99750

[Term]
id: MONDO:0020489
name: familial hyperreninemic hypoaldosteronism type 1
subset: ordo_etiological_subtype {source="Orphanet:99763"}
synonym: "18-hydroxylase deficiency" EXACT [Orphanet:99763]
synonym: "18-oxidase deficiency" EXACT [Orphanet:99763]
synonym: "aldosterone synthase deficiency" EXACT [Orphanet:99763]
synonym: "CMO I" EXACT [Orphanet:99763]
synonym: "CMO II" EXACT [Orphanet:99763]
synonym: "corticosterone methyloxidase deficiency type I" EXACT [Orphanet:99763]
synonym: "FHHA1" EXACT [Orphanet:99763]
xref: ICD10:E27.4 {source="Orphanet:99763", source="ORDO:99763/attributed", source="ORDO:99763/ntbt"}
xref: Orphanet:99763 {source="MONDO:equivalentTo"}
xref: UMLS:C4289986 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018541 {source="Orphanet:99763"} ! familial hypoaldosteronism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268293
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4289986
property_value: exactMatch Orphanet:99763

[Term]
id: MONDO:0020490
name: mosaic trisomy 9
def: "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects , and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9]
subset: gard_rare {source="GARD:0000043"}
subset: ordo_malformation_syndrome {source="Orphanet:99776"}
synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043]
synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776]
synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043]
xref: GARD:0000043 {source="MONDO:equivalentTo"}
xref: ICD10:Q92.1 {source="Orphanet:99776", source="ORDO:99776/attributed", source="ORDO:99776/ntbt"}
xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99776/e"}
xref: Orphanet:99776 {source="MONDO:equivalentTo"}
xref: SCTID:764989007 {source="MONDO:equivalentTo"}
xref: UMLS:CN035918 {source="MONDO:equivalentTo"}
is_a: MONDO:0020051 {source="Orphanet:99776"} ! total autosomal trisomy
property_value: exactMatch http://identifiers.org/mesh/C535454
property_value: exactMatch http://identifiers.org/snomedct/764989007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930908
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035918
property_value: exactMatch Orphanet:99776
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 xsd:anyURI {source="GARD:0000043"}

[Term]
id: MONDO:0020491
name: subcortical band heterotopia
def: "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." [NCIT:C116933]
comment: Editor note: check this hierarchy
subset: gard_rare
subset: ordo_morphological_anomaly {source="Orphanet:99796"}
synonym: "band heterotopia" EXACT [DOID:0111169]
synonym: "Double cortex" RELATED [GARD:0001904]
synonym: "double cortex syndrome" EXACT [DOID:0111169]
synonym: "familial band heterotopia" RELATED [GARD:0002250]
synonym: "HeCo" EXACT [DOID:0111169]
synonym: "heterotopic cortex" EXACT [DOID:0111169]
synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796]
xref: DOID:0111169 {source="MONDO:equivalentTo"}
xref: GARD:0001904 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: GARD:0002250 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.3 {source="Orphanet:99796", source="ORDO:99796/attributed", source="ORDO:99796/ntbt"}
xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"}
xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"}
xref: UMLS:C1848201 {source="Orphanet:99796", source="MONDO:equivalentTo", source="NCIT:C116933", source="ORDO:99796/e", source="DOID:0111169"}
xref: UMLS:C4284594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0020491", source="NCIT:C116933"} ! syndromic disease
is_a: MONDO:0015572 {source="Orphanet:99796"} ! cerebral malformation due to abnormal neuronal migration
property_value: exactMatch DOID:0111169
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1848201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4284594
property_value: exactMatch NCIT:C116933
property_value: exactMatch Orphanet:99796
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia xsd:anyURI {source="GARD:0002250"}

[Term]
id: MONDO:0020492
name: hemimegalencephaly
def: "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy." [Orphanet:99802]
subset: gard_rare {source="GARD:0002637"}
subset: ordo_malformation_syndrome {source="Orphanet:99802"}
synonym: "macrencephaly" RELATED [GARD:0002637]
synonym: "unilateral megalencephaly" EXACT [Orphanet:99802]
xref: GARD:0002637 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.5 {source="Orphanet:99802", source="ORDO:99802/attributed", source="ORDO:99802/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D065705 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:99802 {source="MONDO:equivalentTo"}
xref: SCTID:253170008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0431391 {source="ORDO:99802/e", source="MONDO:equivalentTo", source="Orphanet:99802"}
is_a: MONDO:0015655 {source="Orphanet:99802"} ! cerebral malformation with epilepsy
property_value: exactMatch http://identifiers.org/mesh/D065705
property_value: exactMatch http://identifiers.org/snomedct/253170008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0431391
property_value: exactMatch Orphanet:99802
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly xsd:anyURI {source="GARD:0002637"}

[Term]
id: MONDO:0020493
name: Haddad syndrome
def: "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." [Orphanet:99803]
subset: ordo_malformation_syndrome {source="Orphanet:99803"}
synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndrome" EXACT [Orphanet:99803]
synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803]
synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803]
xref: ICD10:G47.3 {source="MONDO:relatedTo", source="ORDO:99803/attributed", source="ORDO:99803/ntbt", source="Orphanet:99803"}
xref: Orphanet:99803 {source="MONDO:equivalentTo"}
xref: SCTID:719972004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.85/0.68/0.20"}
is_a: MONDO:0008852 {source="MONDOLEX:0020493"} ! congenital central hypoventilation syndrome
is_a: MONDO:0021189 {source="Orphanet:99803"} ! intestinal motility disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1859049
property_value: exactMatch http://identifiers.org/mesh/C536209
property_value: exactMatch http://identifiers.org/snomedct/719972004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859587
property_value: exactMatch Orphanet:99803

[Term]
id: MONDO:0020494
name: oculootodental syndrome
def: "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." [Orphanet:99806]
subset: ordo_malformation_syndrome {source="Orphanet:99806"}
synonym: "OOD" EXACT [Orphanet:99806]
xref: ICD10:K00.2 {source="ORDO:99806/attributed", source="ORDO:99806/ntbt", source="Orphanet:99806"}
xref: Orphanet:99806 {source="MONDO:equivalentTo"}
xref: UMLS:C2750325 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:99806"}
is_a: MONDO:0015336 {source="Orphanet:99806"} ! malformation syndrome with odontal and/or periodontal component
is_a: MONDO:0016910 {source="Orphanet:99806"} ! partial deletion of the long arm of chromosome 11
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2750325
property_value: exactMatch Orphanet:99806

[Term]
id: MONDO:0020495
name: peho-like syndrome
def: "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." [Orphanet:99807]
subset: ordo_disease {source="Orphanet:99807"}
synonym: "peho-like syndrome; PEHOL" RELATED [OMIM:617507]
synonym: "PEHOL" RELATED [OMIM:617507]
synonym: "Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" RELATED [OMIM:617507]
xref: OMIM:617507 {source="MONDO:equivalentTo"}
xref: Orphanet:99807 {source="MONDO:equivalentTo", source="OMIM:617507"}
is_a: MONDO:0009841 ! PEHO syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850056
property_value: exactMatch http://identifiers.org/omim/617507
property_value: exactMatch Orphanet:99807

[Term]
id: MONDO:0020496
name: familial porencephaly
def: "An instance of porencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:0002258"}
subset: ordo_etiological_subtype {source="Orphanet:99810"}
synonym: "familial porencephalic white matter disease" RELATED [GARD:0002258]
synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002258 {source="MONDO:equivalentTo"}
xref: ICD10:Q04.6 {source="Orphanet:99810", source="ORDO:99810/inclusion", source="ORDO:99810/ntbt"}
xref: Orphanet:99810 {source="MONDO:equivalentTo"}
is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:99810"} ! porencephaly
is_a: MONDO:0018790 {source="Orphanet:99810"} ! COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
intersection_of: MONDO:0017410 ! porencephaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C536850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867983
property_value: exactMatch Orphanet:99810
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly xsd:anyURI {source="GARD:0002258"}

[Term]
id: MONDO:0020497
name: Turcot syndrome with polyposis
def: "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." [Orphanet:99818]
subset: ordo_clinical_subtype {source="Orphanet:99818"}
xref: ICD10:D12.6 {source="ORDO:99818/attributed", source="ORDO:99818/ntbt", source="Orphanet:99818"}
xref: Orphanet:99818 {source="MONDO:equivalentTo"}
xref: UMLS:CN207386 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016756 {source="Orphanet:99818"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0021055 {source="Orphanet:99818"} ! classic familial adenomatous polyposis
is_a: MONDO:0021248 ! nervous system neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207386
property_value: exactMatch Orphanet:99818

[Term]
id: MONDO:0020498
name: obsolete Lassa fever
is_obsolete: true
replaced_by: MONDO:0005820

[Term]
id: MONDO:0020499
name: Nipah virus disease
def: "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." [Orphanet:99825]
subset: ordo_disease {source="Orphanet:99825"}
synonym: "Nipah encephalitis" EXACT [Orphanet:99825]
synonym: "Nipah fever" EXACT [Orphanet:99825]
synonym: "Nipah virus infectious disease" EXACT []
xref: DOID:0050192 {source="MONDO:equivalentObsolete"}
xref: ICD10:A98.8 {source="ORDO:99825/ntbt", source="Orphanet:99825"}
xref: Orphanet:99825 {source="MONDO:equivalentTo"}
xref: UMLS:CN207389 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005785 ! henipavirus infectious disease
is_a: MONDO:0006009 ! viral encephalitis
property_value: exactMatch DOID:0050192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207389
property_value: exactMatch Orphanet:99825

[Term]
id: MONDO:0020500
name: Marburg hemorrhagic fever
def: "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." [Orphanet:99826]
subset: gard_rare {source="GARD:0009444"}
subset: ordo_disease {source="Orphanet:99826"}
synonym: "Green monkey disease" EXACT [Orphanet:99826]
synonym: "Marburg disease" EXACT [DOID:4327, MTHICD9_2006:078.89]
synonym: "Marburg virus disease" EXACT [DOID:4327, Orphanet:99826]
synonym: "MHF" EXACT [Orphanet:99826]
xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"}
xref: EFO:0007358 {source="MONDO:equivalentTo"}
xref: GARD:0009444 {source="MONDO:equivalentTo"}
xref: ICD10:A98.3 {source="ORDO:99826/e", source="DOID:4327", source="Orphanet:99826"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10026822 {source="ORDO:99826/e", source="Orphanet:99826"}
xref: MESH:D008379 {source="EFO:0007358", source="DOID:4327", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84883 {source="DOID:4327", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:99826 {source="MONDO:equivalentTo"}
xref: SCTID:77503002 {source="DOID:4327", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0024788 {source="MEDGEN:kboom-pr98-c99", source="DOID:4327", source="MONDO:equivalentTo", source="Orphanet:99826", source="NCIT:C84883"}
is_a: MONDO:0005762 ! Filoviridae infectious disease
is_a: MONDO:0018087 {source="MESH:D008379", source="Orphanet:99826", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever
property_value: closeMatch http://identifiers.org/snomedct/123322008
property_value: exactMatch DOID:4327
property_value: exactMatch http://identifiers.org/meddra/10026822
property_value: exactMatch http://identifiers.org/mesh/D008379
property_value: exactMatch http://identifiers.org/snomedct/77503002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024788
property_value: exactMatch NCIT:C84883
property_value: exactMatch Orphanet:99826
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever xsd:anyURI {source="GARD:0009444"}

[Term]
id: MONDO:0020501
name: Crimean-Congo hemorrhagic fever
def: "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." [Orphanet:99827]
subset: ordo_disease {source="Orphanet:99827"}
synonym: "CCHF" EXACT [Orphanet:99827]
synonym: "CHF Congo virus" EXACT [DOID:12287, MTHICD9_2006:065.0]
synonym: "Congo fever" EXACT [Orphanet:99827]
synonym: "Congo hemorrhagic fever" EXACT [Orphanet:99827]
synonym: "Congo-Crimean hemorrhagic fever" EXACT [DOID:12287, NCIT:C34682]
synonym: "Crimean hemorrhagic fever" EXACT [Orphanet:99827]
synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [DOID:12287, ICD9CM_2006:065.0]
synonym: "Crimean-Congo haemorrhagic fever" EXACT [] {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"}
xref: DOID:12287 {source="MONDO:equivalentTo"}
xref: ICD10:A98.0 {source="MONDO:equivalentTo", source="ORDO:99827/e", source="Orphanet:99827", source="DOID:12287"}
xref: ICD9:065.0 {source="DOID:12287"}
xref: MESH:D006479 {source="MONDO:equivalentTo", source="DOID:12287", source="MONDO:ontobio"}
xref: NCIT:C34682 {source="MONDO:equivalentTo", source="DOID:12287", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:99827 {source="MONDO:equivalentTo"}
xref: SCTID:402919000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"}
xref: UMLS:C0019099 {source="MEDGEN:kboom-pr97-c98", source="NCIT:C34682", source="MONDO:equivalentTo", source="Orphanet:99827", source="DOID:12287"}
xref: UMLS:C1304456 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0018087 {source="MESH:D006479", source="NCIT:C34682", source="Orphanet:99827", source="linkedlifedata"} ! viral hemorrhagic fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/43489008
property_value: exactMatch DOID:12287
property_value: exactMatch http://identifiers.org/mesh/D006479
property_value: exactMatch http://identifiers.org/snomedct/402919000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019099
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304456
property_value: exactMatch NCIT:C34682
property_value: exactMatch Orphanet:99827

[Term]
id: MONDO:0020502
name: yellow fever
def: "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." [Orphanet:99829]
subset: gard_rare {source="GARD:0007914"}
subset: ordo_disease {source="Orphanet:99829"}
synonym: "bronze John" EXACT [Orphanet:99829]
synonym: "jungle yellow fever" EXACT [DOID:9682]
synonym: "sylvatic yellow fever" EXACT [DOID:9682, ICD9CM_2006:060.0]
synonym: "urban yellow fever" EXACT [DOID:9682]
synonym: "Yellow fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Yellow fever virus disease or disorder" EXACT []
synonym: "Yellow fever Virus infection" EXACT [NCIT:C35547]
synonym: "Yellow fever virus infectious disease" EXACT []
synonym: "Yellow fever, sylvan" EXACT [DOID:9682, MTHICD9_2006:060.0]
synonym: "Yellow Jack" EXACT [Orphanet:99829]
synonym: "YF" EXACT [Orphanet:99829]
xref: DOID:9682 {source="MONDO:equivalentTo"}
xref: GARD:0007914 {source="MONDO:equivalentTo"}
xref: ICD10:A95 {source="DOID:9682"}
xref: ICD10:A95.0 {source="ORDO:99829/btnt", source="Orphanet:99829"}
xref: ICD10:A95.1 {source="ORDO:99829/btnt", source="Orphanet:99829"}
xref: ICD10:A95.9 {source="ORDO:99829/btnt", source="Orphanet:99829", source="DOID:9682"}
xref: ICD9:060 {source="DOID:9682"}
xref: ICD9:060.9 {source="DOID:9682"}
xref: MedDRA:10048240 {source="ORDO:99829/e", source="Orphanet:99829"}
xref: MESH:D015004 {source="MONDO:equivalentTo", source="ORDO:99829/e", source="Orphanet:99829", source="DOID:9682", source="MONDO:ontobio"}
xref: NCIT:C35547 {source="MONDO:equivalentTo", source="DOID:9682", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: Orphanet:99829 {source="MONDO:equivalentTo"}
xref: UMLS:C0043395 {source="MONDO:equivalentTo", source="ORDO:99829/e", source="Orphanet:99829", source="DOID:9682", source="NCIT:C35547"}
xref: UMLS:C0043397 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C0043398 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005763 ! Flaviviridae infectious disease
is_a: MONDO:0018093 {source="Orphanet:99829"} ! arbovirus fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
property_value: closeMatch http://identifiers.org/snomedct/154345006
property_value: closeMatch http://identifiers.org/snomedct/16541001
property_value: closeMatch http://identifiers.org/snomedct/186587002
property_value: closeMatch http://identifiers.org/snomedct/187411002
property_value: closeMatch http://identifiers.org/snomedct/266194002
property_value: exactMatch DOID:9682
property_value: exactMatch http://identifiers.org/meddra/10048240
property_value: exactMatch http://identifiers.org/mesh/D015004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043395
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043397
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043398
property_value: exactMatch NCIT:C35547
property_value: exactMatch Orphanet:99829
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7914/yellow-fever xsd:anyURI {source="GARD:0007914"}

[Term]
id: MONDO:0020503
name: resistance to thyrotropin-releasing hormone syndrome
def: "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." [Orphanet:99832]
subset: ordo_disease {source="Orphanet:99832"}
synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [Orphanet:99832]
synonym: "TRH resistance syndrome" EXACT [Orphanet:99832]
xref: ICD10:E03.1 {source="Orphanet:99832", source="ORDO:99832/attributed", source="ORDO:99832/ntbt"}
xref: Orphanet:99832 {source="MONDO:equivalentTo"}
xref: SCTID:725462002 {source="MONDO:equivalentTo"}
xref: UMLS:CN207394 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0016410 {source="Orphanet:99832"} ! central congenital hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/725462002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207394
property_value: exactMatch Orphanet:99832

[Term]
id: MONDO:0020504
name: genetic recurrent myoglobinuria
def: "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." [Orphanet:99845]
subset: ordo_disease {source="Orphanet:99845"}
xref: ICD10:R82.1 {source="MONDO:relatedTo", source="Orphanet:99845", source="ORDO:99845/attributed", source="ORDO:99845/ntbt"}
xref: Orphanet:99845 {source="MONDO:equivalentTo"}
xref: SCTID:716721003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
is_a: MONDO:0019602 {source="Orphanet:99845"} ! other inborn metabolic disease
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:99845", source="linkedlifedata"} ! muscular lipidosis
relationship: excluded_subClassOf MONDO:0018120 {source="Orphanet:99845"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
property_value: exactMatch http://identifiers.org/snomedct/716721003
property_value: exactMatch Orphanet:99845

[Term]
id: MONDO:0020505
name: ravine syndrome
def: "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." [Orphanet:99852]
subset: ordo_disease {source="Orphanet:99852"}
synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orphanet:99852]
synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852]
xref: ICD10:E75.2 {source="Orphanet:99852", source="ORDO:99852/attributed", source="ORDO:99852/ntbt"}
xref: Orphanet:99852 {source="MONDO:equivalentTo"}
xref: SCTID:715794009 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
xref: UMLS:C4275006 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN207401 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0019046 {source="Orphanet:99852", source="linkedlifedata"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/snomedct/715794009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207401
property_value: exactMatch Orphanet:99852

[Term]
id: MONDO:0020506
name: ovarioleukodystrophy
subset: ordo_clinical_subtype {source="Orphanet:99853"}
xref: ICD10:E75.2 {source="Orphanet:99853", source="ORDO:99853/attributed", source="ORDO:99853/ntbt"}
xref: Orphanet:99853 {source="MONDO:equivalentTo"}
xref: UMLS:C1847967 {source="MEDGEN:kboom-pr97-c99", source="Orphanet:99853", source="MONDO:equivalentTo"}
is_a: MONDO:0011380 {source="MONDOLEX:0020506", source="Orphanet:99853"} ! leukoencephalopathy with vanishing white matter
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1847967
property_value: exactMatch Orphanet:99853

[Term]
id: MONDO:0020507
name: Cree leukoencephalopathy
subset: ordo_clinical_subtype {source="Orphanet:99854"}
xref: ICD10:E75.2 {source="Orphanet:99854", source="ORDO:99854/attributed", source="ORDO:99854/ntbt"}
xref: Orphanet:99854 {source="MONDO:equivalentTo"}
is_a: MONDO:0011380 {source="MONDOLEX:0020507", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter
property_value: exactMatch Orphanet:99854

[Term]
id: MONDO:0020508
name: primary syringomyelia
subset: ordo_morphological_anomaly {source="Orphanet:99856"}
synonym: "congenital syringomyelia" EXACT [Orphanet:99856]
xref: ICD10:Q06.4 {source="Orphanet:99856", source="ORDO:99856/attributed", source="ORDO:99856/ntbt"}
xref: Orphanet:99856 {source="MONDO:equivalentTo"}
xref: SCTID:371076006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C1299627 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017987 {source="Orphanet:99856", source="linkedlifedata"} ! syringomyelia
relationship: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856"} ! malformation of the neurenteric canal, spinal cord and column
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861301
property_value: exactMatch http://identifiers.org/snomedct/371076006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1299627
property_value: exactMatch Orphanet:99856

[Term]
id: MONDO:0020509
name: secondary syringomyelia
def: "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." [Orphanet:99857]
subset: ordo_disease {source="Orphanet:99857"}
xref: ICD10:G95.0 {source="Orphanet:99857", source="ORDO:99857/ntbt"}
xref: Orphanet:99857 {source="MONDO:equivalentTo"}
is_a: MONDO:0017987 {source="Orphanet:99857"} ! syringomyelia
property_value: exactMatch Orphanet:99857

[Term]
id: MONDO:0020510
name: idiopathic syringomyelia
def: "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." [Orphanet:99858]
subset: ordo_clinical_subtype {source="Orphanet:99858"}
xref: ICD10:G95.0 {source="ORDO:99858/attributed", source="ORDO:99858/ntbt", source="Orphanet:99858"}
xref: Orphanet:99858 {source="MONDO:equivalentTo"}
xref: SCTID:725001004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511700 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020508 {source="Orphanet:99858"} ! primary syringomyelia
relationship: has_modifier MONDO:0021136 {source="https://orcid.org/0000-0002-6195-6976"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/725001004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511700
property_value: exactMatch Orphanet:99858

[Term]
id: MONDO:0020511
name: precursor B-cell acute lymphoblastic leukemia
def: "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" [NCIT:C8644]
subset: ordo_disease {source="Orphanet:99860"}
synonym: "acute B cell lymphocytic leukemia" EXACT [NCIT:C8644]
synonym: "acute B-cell lymphocytic leukemia" EXACT [NCIT:C8644]
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C8644]
synonym: "B cell acute lymphocytic leukemia" EXACT [NCIT:C8644]
synonym: "B cell precursor type acute leukemia" EXACT [NCIT:C8644]
synonym: "B-ALL" BROAD [Orphanet:99860]
synonym: "B-cell Acute Lymphoblastic Leukemia" EXACT [NCIT:C8644]
synonym: "B-cell acute lymphoblastic leukemia" EXACT [NCIT:C8644]
synonym: "B-cell acute lymphocytic leukemia" EXACT [NCIT:C8644]
synonym: "B-cell lymphoblastic leukemia" EXACT [NCIT:C8644]
synonym: "B-cell precursor type acute leukemia" EXACT [NCIT:C8644]
synonym: "B-cell type acute leukemia" EXACT [NCIT:C8644]
synonym: "B-precursor ALL" EXACT [NCIT:C8644]
synonym: "precursor B-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99860]
synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860]
synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99860]
synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644]
synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644]
xref: ICD10:C83.5 {source="ORDO:99860/ntbt", source="Orphanet:99860"}
xref: ICD10:C91.0 {source="ORDO:99860/ntbt", source="Orphanet:99860"}
xref: ICDO:9836/3 {source="NCIT:C8644"}
xref: NCIT:C8644 {source="MONDO:equivalentTo"}
xref: Orphanet:99860 {source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="MONDOLEX:0020511", source="NCIT:C8644", source="Orphanet:99860"} ! acute lymphoblastic leukemia (disease)
is_a: MONDO:0017595 {source="Orphanet:99860"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292769
property_value: exactMatch NCIT:C8644
property_value: exactMatch Orphanet:99860

[Term]
id: MONDO:0020512
name: precursor T-cell acute lymphoblastic leukemia
subset: ordo_disease {source="Orphanet:99861"}
synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99861]
synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861]
synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861]
synonym: "T-ALL" EXACT [Orphanet:99861]
xref: ICD10:C91.0 {source="ORDO:99861/ntbt", source="Orphanet:99861"}
xref: Orphanet:99861 {source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="MONDOLEX:0020512", source="Orphanet:99861"} ! acute lymphoblastic leukemia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961099
property_value: exactMatch Orphanet:99861

[Term]
id: MONDO:0020513
name: spermatocytic seminoma
def: "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." [NCIT:C39921]
subset: ordo_disease {source="Orphanet:99865"}
synonym: "spermatocytic seminoma" EXACT [NCIT:C39921]
synonym: "spermatocytoma" RELATED [DOID:5834]
synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921]
xref: DOID:5834 {source="MONDO:equivalentTo"}
xref: DOID:7891 {source="MONDO:equivalentTo"}
xref: ICD10:C62.9 {source="Orphanet:99865", source="ORDO:99865/ntbt"}
xref: ICDO:9063/3 {source="NCIT:C39921"}
xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.07", source="MONDO:superClassOf"}
xref: Orphanet:99865 {source="MONDO:equivalentTo"}
xref: UMLS:C0334517 {source="ORDO:99865/e", source="Orphanet:99865", source="DOID:5834", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="NCIT:C39921"}
is_a: MONDO:0003669 {source="DOID:7891", source="NCIT:C39921"} ! testicular seminoma
relationship: excluded_subClassOf MONDO:0003667 {source="DOID:7891", source="MONDOLEX:0020513"} ! obsolete spermatocytoma
property_value: closeMatch http://identifiers.org/snomedct/9294008
property_value: exactMatch DOID:5834
property_value: exactMatch DOID:7891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334517
property_value: exactMatch NCIT:C39921
property_value: exactMatch Orphanet:99865

[Term]
id: MONDO:0020514
name: obsolete thymoma
is_obsolete: true
replaced_by: MONDO:0006456

[Term]
id: MONDO:0020515
name: obsolete thymic carcinoma
is_obsolete: true
replaced_by: MONDO:0006451

[Term]
id: MONDO:0020516
name: thymic neuroendocrine carcinoma
def: "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation." [Orphanet:99869]
subset: ordo_disease {source="Orphanet:99869"}
synonym: "neuroendocrine carcinoma of thymus" EXACT []
synonym: "thymic neuroendocrine carcinoma" EXACT []
synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD10:C37 {source="ORDO:99869/ntbt", source="Orphanet:99869"}
xref: Orphanet:99869 {source="MONDO:equivalentTo"}
xref: SCTID:716653001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.08"}
xref: UMLS:C2210965 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:CN207412 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002120 ! neuroendocrine carcinoma
is_a: MONDO:0006451 ! thymic carcinoma
is_a: MONDO:0019964 ! thymic neuroendocrine tumor
property_value: exactMatch http://identifiers.org/snomedct/716653001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2210965
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207412
property_value: exactMatch Orphanet:99869

[Term]
id: MONDO:0020517
name: eosinophilic granuloma
def: "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." [NCIT:P378]
subset: ordo_disease {source="Orphanet:99871"}
synonym: "chronic and localized Langerhans cell histiocytosis" EXACT [Orphanet:99871]
synonym: "chronic unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016]
synonym: "eosinophilic granuloma" EXACT [NCIT:C3016]
synonym: "eosinophilic xanthomatous granuloma" EXACT [NCIT:C3016]
synonym: "Monostotic Langerhans cell histiocytosis" EXACT [NCIT:C3016]
synonym: "unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016]
xref: COHD:4044708 {source="MONDO:equivalentTo"}
xref: ICD10:C96.6 {source="ORDO:99871/ntbt", source="Orphanet:99871"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9752/1 {source="NCIT:C3016"}
xref: MedDRA:10014956 {source="ORDO:99871/e", source="Orphanet:99871"}
xref: MESH:D004803 {source="MONDO:equivalentTo", source="ORDO:99871/e", source="MONDO:ontobio", source="Orphanet:99871"}
xref: NCIT:C3016 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:99871 {source="MONDO:equivalentTo"}
xref: SCTID:129000002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.30"}
xref: UMLS:C0014461 {source="MONDO:equivalentTo", source="ORDO:99871/e", source="NCIT:C3016", source="Orphanet:99871"}
is_a: MONDO:0017036 {source="Orphanet:99871"} ! Langerhans cell histiocytosis in childhood and adulthood
property_value: exactMatch http://identifiers.org/meddra/10014956
property_value: exactMatch http://identifiers.org/mesh/D004803
property_value: exactMatch http://identifiers.org/snomedct/129000002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014461
property_value: exactMatch NCIT:C3016
property_value: exactMatch Orphanet:99871

[Term]
id: MONDO:0020518
name: Hashimoto-Pritzker syndrome
def: "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis (see this term) characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." [Orphanet:99872]
subset: gard_rare {source="GARD:0002604"}
subset: ordo_disease {source="Orphanet:99872"}
synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872]
synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604]
synonym: "Hashimoto-Pritzker histiocytosis" RELATED [GARD:0002604]
xref: GARD:0002604 {source="MONDO:equivalentTo"}
xref: ICD10:C96.5 {source="ORDO:99872/ntbt", source="Orphanet:99872"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535843 {source="MONDO:equivalentTo", source="MONDO:ontobio", source="ORDO:99872/e", source="Orphanet:99872"}
xref: Orphanet:99872 {source="MONDO:equivalentTo"}
xref: SCTID:404160007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.05"}
xref: UMLS:C1275336 {source="MONDO:equivalentTo", source="ORDO:99872/e", source="Orphanet:99872"}
is_a: MONDO:0017025 {source="MONDOLEX:0020518", source="Orphanet:99872"} ! Langerhans cell histiocytosis specific to childhood
property_value: exactMatch http://identifiers.org/mesh/C535843
property_value: exactMatch http://identifiers.org/snomedct/404160007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275336
property_value: exactMatch Orphanet:99872
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome xsd:anyURI {source="GARD:0002604"}

[Term]
id: MONDO:0020519
name: hand-Schuller-Christian disease
def: "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." [NCIT:C6920]
subset: ordo_disease {source="Orphanet:99873"}
synonym: "chronic multifocal Langerhans cell histiocytosis" EXACT [Orphanet:99873]
synonym: "classic multifocal Langerhans cell histiocytosis" EXACT [NCIT:C6920]
synonym: "hand-Schuller-Christian disease" EXACT [NCIT:C6920]
synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920]
synonym: "hand-SChüller-Christian disease" RELATED [Orphanet:99873]
synonym: "multifocal eosinophilic granuloma" EXACT [Orphanet:99873]
synonym: "multifocal Unisystem Langerhans cell histiocytosis" EXACT [NCIT:C6920]
xref: ICD10:C96.5 {source="Orphanet:99873", source="ORDO:99873/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:9753/1 {source="NCIT:C6920"}
xref: NCIT:C6920 {source="MONDO:equivalentTo"}
xref: Orphanet:99873 {source="MONDO:equivalentTo"}
xref: SCTID:39795003 {source="MONDO:kboom-pr-0.97/0.82/2.44", source="MONDO:equivalentTo"}
xref: UMLS:CN207416 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017036 {source="Orphanet:99873"} ! Langerhans cell histiocytosis in childhood and adulthood
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268205
property_value: exactMatch http://identifiers.org/snomedct/39795003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207416
property_value: exactMatch NCIT:C6920
property_value: exactMatch Orphanet:99873

[Term]
id: MONDO:0020520
name: adult pulmonary Langerhans cell histiocytosis
def: "adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." [Orphanet:99874]
subset: ordo_disease {source="Orphanet:99874"}
synonym: "PLCH" EXACT [NCIT:C142833]
synonym: "pulmonary eosinophilic granuloma" EXACT [NCIT:C142833]
synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833, Orphanet:99874]
synonym: "pulmonary Langerhans cell histiocytosis" EXACT [NCIT:C142833]
xref: ICD10:C96.5 {source="Orphanet:99874", source="ORDO:99874/ntbt"}
xref: ICD10:J84.82 {source="MONDO:equivalentTo"}
xref: NCIT:C142833 {source="MONDO:equivalentTo"}
xref: Orphanet:99874 {source="MONDO:equivalentTo"}
xref: SCTID:328611000119105 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1455705 {source="Orphanet:99874", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:C3161104 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017029 {source="MONDOLEX:0020520", source="Orphanet:99874"} ! Langerhans cell histiocytosis specific to adulthood
is_a: MONDO:0020517 {source="NCIT:C142833"} ! eosinophilic granuloma
property_value: exactMatch http://identifiers.org/snomedct/328611000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1455705
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3161104
property_value: exactMatch NCIT:C142833
property_value: exactMatch Orphanet:99874

[Term]
id: MONDO:0020521
name: Ehlers-Danlos syndrome type 7A
subset: ordo_etiological_subtype {source="Orphanet:99875"}
synonym: "EDS VIIA" EXACT [Orphanet:99875]
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99875", source="ORDO:99875/attributed", source="ORDO:99875/ntbt"}
xref: Orphanet:99875 {source="MONDO:equivalentTo"}
xref: UMLS:CN207418 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007525 {source="MONDOLEX:0020521", source="Orphanet:99875"} ! Ehlers-Danlos syndrome, arthrochalasis type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268345
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207418
property_value: exactMatch Orphanet:99875

[Term]
id: MONDO:0020522
name: Ehlers-Danlos syndrome type 7B
subset: ordo_etiological_subtype {source="Orphanet:99876"}
synonym: "EDS VIIB" EXACT [Orphanet:99876]
synonym: "EDS VIIB" RELATED [GTR:AN1112965]
synonym: "EDSARTH2" RELATED [GTR:AN1112967]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [GTR:AN1112503]
synonym: "Ehlers-Danlos syndrome, type VIIB, autosomal dominant" RELATED [GTR:AN1112966]
xref: GTR:AN1112503 {source="UMLS:CN706304"}
xref: GTR:AN1112965 {source="UMLS:CN706304"}
xref: GTR:AN1112966 {source="UMLS:CN706304"}
xref: GTR:AN1112967 {source="UMLS:CN706304"}
xref: ICD10:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99876", source="ORDO:99876/attributed", source="ORDO:99876/ntbt"}
xref: MESH:C565061 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: Orphanet:99876 {source="MONDO:equivalentTo"}
xref: UMLS:C1851801 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99876", source="MONDO:equivalentTo"}
xref: UMLS:CN706304 {source="MONDO:equivalentTo"}
is_a: MONDO:0007525 {source="MONDOLEX:0020522", source="Orphanet:99876"} ! Ehlers-Danlos syndrome, arthrochalasis type
property_value: exactMatch http://identifiers.org/mesh/C565061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1851801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN706304
property_value: exactMatch Orphanet:99876

[Term]
id: MONDO:0020523
name: familial parathyroid adenoma
def: "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease {source="Orphanet:99877"}
synonym: "hereditary parathyroid gland adenoma" EXACT [MONDO:patterns/hereditary]
xref: ICD10:E21.0 {source="Orphanet:99877", source="ORDO:99877/attributed", source="ORDO:99877/ntbt"}
xref: Orphanet:99877 {source="MONDO:equivalentTo"}
xref: UMLS:C1840403 {source="ORDO:99877/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:99877", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0006890 ! parathyroid gland adenoma
intersection_of: MONDO:0006890 ! parathyroid gland adenoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C564166
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1840403
property_value: exactMatch Orphanet:99877

[Term]
id: MONDO:0020524
name: primary parathyroid hyperplasia
subset: ordo_disease {source="Orphanet:99878"}
synonym: "familial parathyroids hyperplasia" EXACT [Orphanet:99878]
synonym: "hereditary parathyroids hyperplasia" RELATED [Orphanet:99878]
xref: ICD10:E21.0 {source="Orphanet:99878", source="ORDO:99878/attributed", source="ORDO:99878/ntbt"}
xref: Orphanet:99878 {source="MONDO:equivalentTo"}
is_a: MONDO:0016365 {source="Orphanet:99878"} ! familial primary hyperparathyroidism
property_value: exactMatch Orphanet:99878

[Term]
id: MONDO:0020525
name: transient neonatal diabetes mellitus (disease)
def: "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." [Orphanet:99886]
subset: ordo_disease {source="Orphanet:99886"}
synonym: "chromosome 6-associated transient diabetes mellitus" RELATED [GARD:0001839]
synonym: "diabetes mellitus, 6q24-related transient neonatal" RELATED [GARD:0001839]
synonym: "diabetes mellitus, transient neonatal" RELATED [GARD:0001839]
synonym: "TNDM" EXACT [Orphanet:99886]
synonym: "transient neonatal diabetes mellitus" EXACT [MONDO:ambiguous]
xref: DOID:0060334 {source="MONDO:equivalentTo"}
xref: GARD:0001839 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: HP:0008255 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:P70.2 {source="MONDO:subClassOf", source="Orphanet:99886", source="DOID:0060334", source="ORDO:99886/attributed", source="ORDO:99886/ntbt"}
xref: NCIT:C114899 {source="MONDO:kboom-pr-0.92/0.83/0.08", source="MONDO:equivalentTo"}
xref: Orphanet:99886 {source="DOID:0060334", source="MONDO:equivalentTo"}
xref: SCTID:237603002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016391 {source="DOID:0060334", source="MONDO:Redundant", source="NCIT:C114899", source="Orphanet:99886", source="linkedlifedata"} ! neonatal diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0342273
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832386
property_value: exactMatch DOID:0060334
property_value: exactMatch http://identifiers.org/snomedct/237603002
property_value: exactMatch NCIT:C114899
property_value: exactMatch Orphanet:99886

[Term]
id: MONDO:0020526
name: acute megakaryoblastic leukemia in down syndrome
subset: ordo_clinical_subtype {source="Orphanet:99887"}
synonym: "DS-AMKL" EXACT [Orphanet:99887]
xref: ICD10:C94.2 {source="Orphanet:99887", source="ORDO:99887/ntbt"}
xref: Orphanet:99887 {source="MONDO:equivalentTo"}
xref: UMLS:CN207426 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018872 {source="Orphanet:99887"} ! acute megakaryoblastic leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207426
property_value: exactMatch Orphanet:99887

[Term]
id: MONDO:0020527
name: ectopic Cushing syndrome
def: "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." [Orphanet:99889]
subset: ordo_disease {source="Orphanet:99889"}
synonym: "adrenocorticotropic hormone secretion syndrome" EXACT [Orphanet:99889]
synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890]
synonym: "ectopic ACTH secreting tumor" EXACT [DOID:0060890, Orphanet:99889]
synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889]
synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889]
synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889]
xref: DOID:0060890 {source="MONDO:equivalentTo"}
xref: ICD10:E24.3 {source="DOID:0060890", source="Orphanet:99889", source="ORDO:99889/ntbt"}
xref: Orphanet:99889 {source="DOID:0060890", source="MONDO:equivalentTo"}
xref: UMLS:CN207427 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020528 {source="Orphanet:99889"} ! ACTH-dependent Cushing syndrome
property_value: exactMatch DOID:0060890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207427
property_value: exactMatch Orphanet:99889

[Term]
id: MONDO:0020528
name: ACTH-dependent Cushing syndrome
def: "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." [Orphanet:99892]
subset: ordo_group_of_disorders {source="Orphanet:99892"}
synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748]
synonym: "ACTH-dependent CS" EXACT [Orphanet:99892]
synonym: "adrenocorticotropic hormone, inappropriate secretion" RELATED [MESH:D047748]
synonym: "adrenocorticotropic hormone-dependent Cushing syndrome" EXACT [Orphanet:99892]
synonym: "corticotropin-dependent Cushing syndrome" EXACT [Orphanet:99892]
synonym: "overproduction of ACTH" EXACT [DOID:3946, MTHICD9_2006:255.3]
synonym: "pituitary Cushing disease" RELATED [MESH:D047748]
synonym: "pituitary Cushing diseases" RELATED [MESH:D047748]
synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748]
synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946]
synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"}
xref: EFO:1001110 {source="MONDO:equivalentTo"}
xref: ICD10:E24.0 {source="ORDO:99892/ntbt", source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"}
xref: MedDRA:10035109 {source="EFO:1001110"}
xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"}
xref: Orphanet:99892 {source="MONDO:equivalentTo"}
xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.69/0.35/0.09", source="DOID:3946"}
xref: SCTID:237734007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.26"}
xref: UMLS:C0342442 {source="MONDO:equivalentTo", source="ORDO:99892/e", source="Orphanet:99892"}
is_a: MONDO:0006793 {source="DOID:3946", source="MESH:D047748", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism
is_a: MONDO:0018912 {source="EFO:1001110", source="ICD10:E24.0", source="MONDO:Redundant", source="MONDOLEX:0006910", source="MONDOLEX:0020528", source="Orphanet:99892"} ! Cushing syndrome
disjoint_from: MONDO:0020529 ! ACTH-independent Cushing syndrome
relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99892"} ! rare male infertility due to adrenal disorder
relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99892"} ! rare female infertility due to an adrenal disorder
property_value: closeMatch http://identifiers.org/snomedct/9545009
property_value: exactMatch DOID:3946
property_value: exactMatch http://identifiers.org/mesh/D047748
property_value: exactMatch http://identifiers.org/snomedct/190502001
property_value: exactMatch http://identifiers.org/snomedct/237734007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342442
property_value: exactMatch Orphanet:99892

[Term]
id: MONDO:0020529
name: ACTH-independent Cushing syndrome
def: "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS; see this term) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC; see these terms)." [Orphanet:99893]
subset: ordo_group_of_disorders {source="Orphanet:99893"}
synonym: "adrenal Cushing syndrome" EXACT [Orphanet:99893]
synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orphanet:99893]
synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893]
xref: ICD10:E24.8 {source="ORDO:99893/ntbt", source="Orphanet:99893"}
xref: Orphanet:99893 {source="MONDO:equivalentTo"}
xref: UMLS:CN207429 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018912 {source="MONDOLEX:0020529", source="Orphanet:99893"} ! Cushing syndrome
relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99893"} ! rare male infertility due to adrenal disorder
relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99893"} ! rare female infertility due to an adrenal disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207429
property_value: exactMatch Orphanet:99893

[Term]
id: MONDO:0020530
name: mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:99898]
subset: ordo_disease {source="Orphanet:99898"}
subset: predisposition
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1" EXACT []
synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IFNGR1 deficiency" RELATED [GARD:0003011]
synonym: "interferon gamma, receptor 1, deficiency" RELATED [GARD:0003011]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898]
synonym: "MSMD due to complete IFNgammaR1 deficiency" EXACT [Orphanet:99898]
synonym: "MSMD due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898]
xref: GARD:0003011 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:D84.8 {source="Orphanet:99898", source="ORDO:99898/attributed", source="ORDO:99898/ntbt"}
xref: MESH:C535530 {source="ORDO:99898/e", source="Orphanet:99898", source="MONDO:equivalentTo"}
xref: Orphanet:99898 {source="MONDO:equivalentTo"}
xref: UMLS:C2930924 {source="ORDO:99898/e", source="Orphanet:99898", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0008856 ! immunodeficiency 27A
is_a: MONDO:0017897 {source="Orphanet:99898"} ! autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
property_value: exactMatch http://identifiers.org/mesh/C535530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930924
property_value: exactMatch Orphanet:99898

[Term]
id: MONDO:0020531
name: long chain acyl-CoA dehydrogenase deficiency
def: "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." [NCIT:C84537]
subset: ordo_disease {source="Orphanet:99900"}
synonym: "ACADL deficiency" RELATED [GARD:0009700]
synonym: "acyl-CoA dehydrogenase, long-chain deficiency" EXACT [NCIT:C84537]
synonym: "inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn long-chain-acyl-CoA dehydrogenase activity disorder" EXACT []
synonym: "LCAD" EXACT [Orphanet:99900]
synonym: "LCAD deficiency" RELATED [GARD:0009700]
synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537]
synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537]
synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:0009700 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:E71.3 {source="Orphanet:99900", source="ORDO:99900/attributed", source="ORDO:99900/ntbt"}
xref: MESH:C535690 {source="ORDO:99900/e", source="Orphanet:99900", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C84537 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:99900 {source="MONDO:equivalentTo"}
xref: SCTID:237996001 {source="MONDO:equivalentTo"}
xref: UMLS:C0220711 {source="NCIT:C84537", source="ORDO:99900/e", source="Orphanet:99900", source="MONDO:equivalentTo"}
is_a: MONDO:0016328 {source="Orphanet:99900"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
is_a: MONDO:0017717 {source="Orphanet:99900"} ! metabolic disease due to other fatty acid oxidation disorder
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/mesh/C535690
property_value: exactMatch http://identifiers.org/snomedct/237996001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220711
property_value: exactMatch NCIT:C84537
property_value: exactMatch Orphanet:99900

[Term]
id: MONDO:0020532
name: spirillary rat-bite fever
def: "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." [Orphanet:99903]
subset: ordo_etiological_subtype {source="Orphanet:99903"}
synonym: "sodoku" EXACT [https://www.britannica.com/science/rat-bite-fever, Orphanet:99903]
synonym: "sodoku disease" EXACT [MONDO:0001432]
synonym: "Spirillary fever" EXACT [DOID:12096, ICD9CM_2006:026.0]
synonym: "spirillosis" RELATED [DOID:12096]
xref: DOID:12096 {source="MONDO:equivalentTo"}
xref: ICD10:A25.0 {source="ORDO:99903/e", source="DOID:12096", source="Orphanet:99903"}
xref: ICD9:026.0 {source="DOID:12096", source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:99903 {source="MONDO:equivalentTo"}
xref: SCTID:19044004 {source="DOID:12096", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
is_a: MONDO:0000314 {source="DOID:12096", source="MONDO:Entailed", source="MONDO:Redundant"} ! primary bacterial infectious disease
is_a: MONDO:0006941 {source="MONDO:Redundant", source="Orphanet:99903", source="linkedlifedata"} ! rat-bite fever
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152062
property_value: exactMatch DOID:12096
property_value: exactMatch http://identifiers.org/snomedct/19044004
property_value: exactMatch Orphanet:99903

[Term]
id: MONDO:0020533
name: streptobacillary rat-bite fever
def: "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." [Orphanet:99905]
subset: ordo_etiological_subtype {source="Orphanet:99905"}
synonym: "Haverhill fever" EXACT [DOID:13238]
synonym: "Streptobacillary fever" EXACT [DOID:13238, ICD9CM_2006:026.1]
synonym: "streptobacillary rat-bite fever" EXACT [DOID:13238]
synonym: "Streptobacillosis" RELATED [DOID:13238]
xref: DOID:13238 {source="MONDO:equivalentTo"}
xref: ICD10:A25.1 {source="DOID:13238", source="ORDO:99905/e", source="Orphanet:99905"}
xref: ICD9:026.1 {source="DOID:13238", source="MONDO:equivalentTo", source="i2s"}
xref: Orphanet:99905 {source="MONDO:equivalentTo"}
xref: SCTID:52138004 {source="DOID:13238", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.21"}
xref: UMLS:C0152063 {source="DOID:13238", source="MONDO:equivalentTo"}
xref: UMLS:CN207435 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:13238", source="MONDO:Redundant", source="indirect"} ! primary bacterial infectious disease
is_a: MONDO:0001667 ! streptobacillus infectious disease
is_a: MONDO:0006941 {source="MONDO:Redundant", source="Orphanet:99905", source="linkedlifedata"} ! rat-bite fever
property_value: exactMatch DOID:13238
property_value: exactMatch http://identifiers.org/snomedct/52138004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207435
property_value: exactMatch Orphanet:99905

[Term]
id: MONDO:0020534
name: obsolete farmer's lung
is_obsolete: true
replaced_by: MONDO:0001971

[Term]
id: MONDO:0020535
name: house allergic alveolitis
def: "House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term)." [Orphanet:99907]
subset: ordo_disease {source="Orphanet:99907"}
xref: ICD10:J67.8 {source="ORDO:99907/ntbt", source="Orphanet:99907"}
xref: Orphanet:99907 {source="MONDO:equivalentTo"}
xref: SCTID:725415009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511048 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017853 {source="Orphanet:99907"} ! hypersensitivity pneumonitis
property_value: exactMatch http://identifiers.org/snomedct/725415009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4511048
property_value: exactMatch Orphanet:99907

[Term]
id: MONDO:0020536
name: pigeon-breeder lung disease
def: "Pigeon-breeder's lung disease, also called bird fancierBs lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss." [Orphanet:99908]
comment: Editor note: merge this
subset: ordo_disease {source="Orphanet:99908"}
synonym: "Bird fancier lung" EXACT [Orphanet:99908]
xref: ICD10:J67.2 {source="ORDO:99908/ntbt", source="MONDO:relatedTo", source="Orphanet:99908"}
xref: MedDRA:10004941 {source="ORDO:99908/e", source="Orphanet:99908"}
xref: Orphanet:99908 {source="MONDO:equivalentTo"}
is_a: MONDO:0020537 {source="Orphanet:99908"} ! occupational allergic alveolitis
property_value: exactMatch http://identifiers.org/meddra/10004941
property_value: exactMatch http://identifiers.org/mesh/D001716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031903
property_value: exactMatch Orphanet:99908

[Term]
id: MONDO:0020537
name: occupational allergic alveolitis
def: "Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" [Orphanet:99909]
subset: ordo_group_of_disorders {source="Orphanet:99909"}
xref: Orphanet:99909 {source="MONDO:equivalentTo"}
is_a: MONDO:0017853 {source="Orphanet:99909"} ! hypersensitivity pneumonitis
property_value: exactMatch Orphanet:99909

[Term]
id: MONDO:0020538
name: malignant dysgerminomatous germ cell tumor of ovary
def: "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary (see this term), arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." [Orphanet:99912]
subset: ordo_disease {source="Orphanet:99912"}
synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912]
synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912]
synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912]
synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912]
xref: ICD10:C56 {source="Orphanet:99912", source="ORDO:99912/ntbt"}
xref: Orphanet:99912 {source="MONDO:equivalentTo"}
xref: UMLS:CN207439 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018171 {source="Orphanet:99912"} ! malignant germ cell tumor of ovary
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207439
property_value: exactMatch Orphanet:99912

[Term]
id: MONDO:0020539
name: extragonadal non-dysgerminomatous germ cell tumor
subset: ordo_group_of_disorders {source="Orphanet:99913"}
xref: Orphanet:99913 {source="MONDO:equivalentTo"}
xref: UMLS:CN207440 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018201 {source="MONDO:Redundant", source="Orphanet:99913"} ! extragonadal germ cell tumor
is_a: MONDO:0021656 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0020539"} ! nongerminomatous germ cell tumor
intersection_of: MONDO:0018201 ! extragonadal germ cell tumor
intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207440
property_value: exactMatch Orphanet:99913

[Term]
id: MONDO:0020540
name: ovarian gynandroblastoma
def: "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." [NCIT:C3072]
subset: gard_rare {source="GARD:0009665"}
subset: ordo_disease {source="Orphanet:99914"}
synonym: "Gynandroblastoma" RELATED [GARD:0009665]
synonym: "Gynandroblastoma of ovary" EXACT [NCIT:C3072]
synonym: "Gynandroblastoma of the ovary" EXACT [NCIT:C3072]
xref: EFO:1000422 {source="MONDO:equivalentTo"}
xref: GARD:0009665 {source="MONDO:equivalentTo"}
xref: ICD10:D39.1 {source="ORDO:99914/btnt", source="Orphanet:99914"}
xref: ICD10:D40.1 {source="ORDO:99914/btnt", source="Orphanet:99914"}
xref: ICDO:8632/1 {source="NCIT:C3072"}
xref: NCIT:C3072 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:99914 {source="MONDO:equivalentTo"}
xref: SCTID:254867003 {source="MONDO:equivalentTo"}
xref: UMLS:C0018413 {source="NCIT:C3072", source="ORDO:99914/e", source="MONDO:equivalentTo", source="Orphanet:99914"}
xref: UMLS:C0346178 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021657 {source="MONDO:cjm", source="NCIT:C3072/inferred"} ! ovarian sex cord-stromal tumor
relationship: excluded_subClassOf MONDO:0018172 {source="Orphanet:99914"} ! malignant sex cord stromal tumor of ovary
property_value: exactMatch http://identifiers.org/snomedct/254867003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346178
property_value: exactMatch NCIT:C3072
property_value: exactMatch Orphanet:99914
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma xsd:anyURI {source="GARD:0009665"}

[Term]
id: MONDO:0020541
name: maligant granulosa cell tumor of ovary
def: "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." [NCIT:C8403]
subset: gard_rare
subset: ordo_disease {source="Orphanet:99915"}
synonym: "adult granulosa cell tumor of the ovary" RELATED [GARD:0008642]
synonym: "adult ovarian granulosa cell tumor" EXACT [MONDO:design_pattern]
synonym: "cancer of granulosa cell" EXACT [MONDO:patterns/cancer]
synonym: "GCT of the ovary" RELATED [GARD:0008642]
synonym: "granulosa cell cancer" EXACT [MONDO:patterns/location, Orphanet:99915]
synonym: "granulosa cell malignant tumor" EXACT [Orphanet:99915]
synonym: "granulosa theca cell tumor" RELATED [GARD:0008642]
synonym: "granulosa theca cell tumor of the ovary" RELATED [GARD:0008642]
synonym: "GTCT" RELATED [GARD:0008642]
synonym: "Maligant granulosa cell tumor of the ovary" RELATED [Orphanet:99915]
synonym: "malignant granulosa cell neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant granulosa cell neoplasm of ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell neoplasm of the ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell tumor of ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403]
synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403]
synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403]
synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:0008642 {source="MONDO:equivalentTo"}
xref: ICD10:C56 {source="ORDO:99915/ntbt", source="Orphanet:99915"}
xref: NCIT:C8403 {source="MONDO:equivalentTo"}
xref: Orphanet:99915 {source="MONDO:equivalentTo"}
xref: SCTID:254861002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346175 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8403"}
xref: UMLS:CN207442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018172 {source="MONDO:Entailed", source="NCIT:C8403", source="Orphanet:99915"} ! malignant sex cord stromal tumor of ovary
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0023283 {source="MONDO:Redundant", source="MONDOLEX:0020541", source="NCIT:C8403"} ! ovarian granulosa cell tumor
property_value: exactMatch http://identifiers.org/snomedct/254861002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334401
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346175
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1567257
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207442
property_value: exactMatch NCIT:C8403
property_value: exactMatch Orphanet:99915
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary xsd:anyURI {source="GARD:0008642"}

[Term]
id: MONDO:0020542
name: malignant Sertoli-Leydig cell tumor of ovary
def: "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." [Orphanet:99916]
subset: ordo_disease {source="Orphanet:99916"}
synonym: "Androblastoma" EXACT [Orphanet:99916]
synonym: "Arrhenoblastoma" EXACT [Orphanet:99916]
synonym: "malignant ovarian Sertoli-Leydig cell tumor" EXACT []
synonym: "malignant ovarian sertoli-Leydig cell tumor" RELATED []
synonym: "malignant Sertoli-Leydig cell tumor of the ovary" RELATED [Orphanet:99916]
synonym: "ovarian malignant Sertoli-Leydig cell tumor" EXACT [Orphanet:99916]
synonym: "ovarian Sertoli-Leydig cell cancer" EXACT [Orphanet:99916]
synonym: "ovarian Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "ovarian sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "virilizing ovarian tumor" EXACT [Orphanet:99916]
xref: ICD10:C56 {source="ORDO:99916/ntbt", source="Orphanet:99916"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99916 {source="MONDO:equivalentTo"}
xref: SCTID:237795006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0342515 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
xref: UMLS:CN207443 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018172 {source="MONDO:Redundant", source="Orphanet:99916"} ! malignant sex cord stromal tumor of ovary
is_a: MONDO:0036595 ! ovarian Sertoli-Leydig cell tumor
property_value: exactMatch http://identifiers.org/snomedct/237795006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342515
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207443
property_value: exactMatch Orphanet:99916

[Term]
id: MONDO:0020543
name: theca steroid-producing cell malignant tumor of ovary, not further specified
def: "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary (see this term) of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome (see this term)." [Orphanet:99917]
comment: Editor note: TODO
subset: ordo_disease {source="Orphanet:99917"}
synonym: "theca (steroid-producing) cell cancer, not further specified" EXACT [Orphanet:99917]
xref: ICD10:C56 {source="ORDO:99917/ntbt", source="Orphanet:99917"}
xref: Orphanet:99917 {source="MONDO:equivalentTo"}
xref: UMLS:CN207444 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0018172 {source="Orphanet:99917"} ! malignant sex cord stromal tumor of ovary
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207444
property_value: exactMatch Orphanet:99917

[Term]
id: MONDO:0020544
name: streptococcal toxic-shock syndrome
def: "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection." [Orphanet:99918]
subset: ordo_etiological_subtype {source="Orphanet:99918"}
synonym: "streptococcal TSS" EXACT [Orphanet:99918]
synonym: "Streptococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus toxic shock syndrome" EXACT []
xref: ICD10:A48.3 {source="MONDO:subClassOf", source="ORDO:99918/ntbt", source="Orphanet:99918"}
xref: MedDRA:10044251 {source="ORDO:99918/e", source="Orphanet:99918"}
xref: Orphanet:99918 {source="MONDO:equivalentTo"}
xref: SCTID:240451000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
xref: UMLS:C0343532 {source="MONDO:equivalentTo", source="ORDO:99918/e", source="Orphanet:99918"}
is_a: MONDO:0001881 {source="MONDO:Redundant", source="MONDOLEX:0020544", source="Orphanet:99918", source="linkedlifedata"} ! toxic shock syndrome
is_a: MONDO:0021680 ! streptococcal infection
property_value: exactMatch http://identifiers.org/meddra/10044251
property_value: exactMatch http://identifiers.org/snomedct/240451000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343532
property_value: exactMatch Orphanet:99918

[Term]
id: MONDO:0020545
name: staphylococcal toxic-shock syndrome
def: "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." [Orphanet:99919]
subset: ordo_etiological_subtype {source="Orphanet:99919"}
synonym: "staphylococcal TSS" EXACT [Orphanet:99919]
synonym: "Staphylococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus toxic shock syndrome" EXACT []
xref: ICD10:A48.3 {source="MONDO:subClassOf", source="ORDO:99919/ntbt", source="Orphanet:99919"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10044250 {source="ORDO:99919/e", source="Orphanet:99919"}
xref: Orphanet:99919 {source="MONDO:equivalentTo"}
xref: SCTID:240450004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.77"}
is_a: MONDO:0001881 {source="MONDO:Redundant", source="MONDOLEX:0020545", source="Orphanet:99919", source="linkedlifedata"} ! toxic shock syndrome
is_a: MONDO:0017592 {source="Orphanet:99919"} ! staphylococcal toxemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714602
property_value: exactMatch http://identifiers.org/meddra/10044250
property_value: exactMatch http://identifiers.org/snomedct/240450004
property_value: exactMatch Orphanet:99919

[Term]
id: MONDO:0020546
name: acute graft versus host disease
def: "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." [NCIT:C4980]
subset: gard_rare {source="GARD:0006544"}
subset: ordo_clinical_subtype {source="Orphanet:99920"}
synonym: "acute GVHD" RELATED [GARD:0006544]
synonym: "fulminant graft versus host disease" EXACT [NCIT:C4980]
synonym: "graft versus host disease, acute" EXACT [MONDO:patterns/acute]
synonym: "GVHD, acute" EXACT [NCIT:C4980]
xref: COHD:439416 {source="MONDO:equivalentTo"}
xref: GARD:0006544 {source="MONDO:equivalentTo"}
xref: ICD10:D89.810 {source="MONDO:equivalentTo"}
xref: ICD10:T86.0 {source="Orphanet:99920", source="ORDO:99920/ntbt"}
xref: ICD9:279.51 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10066260 {source="ORDO:99920/e", source="Orphanet:99920"}
xref: NCIT:C4980 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:99920 {source="MONDO:equivalentTo"}
xref: SCTID:402355000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0856825 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99920", source="NCIT:C4980", source="MONDO:equivalentTo"}
is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4980", source="Orphanet:99920", source="linkedlifedata"} ! graft versus host disease
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/meddra/10066260
property_value: exactMatch http://identifiers.org/snomedct/402355000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0856825
property_value: exactMatch NCIT:C4980
property_value: exactMatch Orphanet:99920
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease xsd:anyURI {source="GARD:0006544"}

[Term]
id: MONDO:0020547
name: chronic graft versus host disease
def: "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." [https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease]
subset: gard_rare {source="GARD:0010964"}
subset: ordo_clinical_subtype {source="Orphanet:99921"}
synonym: "chronic GVHD" RELATED [GARD:0010964]
synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "GVHD, chronic" EXACT [NCIT:C4981]
xref: COHD:434314 {source="MONDO:equivalentTo"}
xref: GARD:0010964 {source="MONDO:equivalentTo"}
xref: ICD10:D89.811 {source="MONDO:equivalentTo"}
xref: ICD10:T86.0 {source="Orphanet:99921", source="ORDO:99921/ntbt"}
xref: ICD9:279.52 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10066261 {source="ORDO:99921/e", source="Orphanet:99921"}
xref: NCIT:C4981 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"}
xref: Orphanet:99921 {source="MONDO:equivalentTo"}
xref: SCTID:402356004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.36"}
xref: UMLS:C0867389 {source="ORDO:99921/e", source="Orphanet:99921", source="MONDO:equivalentTo", source="NCIT:C4981"}
is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4981", source="Orphanet:99921", source="linkedlifedata"} ! graft versus host disease
property_value: exactMatch http://identifiers.org/meddra/10066261
property_value: exactMatch http://identifiers.org/snomedct/402356004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0867389
property_value: exactMatch NCIT:C4981
property_value: exactMatch Orphanet:99921
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease xsd:anyURI {source="GARD:0010964"}

[Term]
id: MONDO:0020548
name: ocular pemphigoid
def: "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." [Orphanet:99922]
subset: ordo_disease {source="Orphanet:99922"}
xref: ICD10:H13.3* {source="ORDO:99922/e", source="Orphanet:99922"}
xref: ICD10:L12+ {source="ORDO:99922/e", source="Orphanet:99922"}
xref: MedDRA:10067776 {source="ORDO:99922/e", source="Orphanet:99922"}
xref: Orphanet:99922 {source="MONDO:equivalentTo"}
xref: SCTID:34250006 {source="MONDO:kboom-pr-0.78/0.43/0.68", source="MONDO:equivalentTo"}
is_a: MONDO:0015937 {source="Orphanet:99922"} ! rare inflammatory eye disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0157721
property_value: exactMatch http://identifiers.org/meddra/10067776
property_value: exactMatch http://identifiers.org/snomedct/34250006
property_value: exactMatch Orphanet:99922

[Term]
id: MONDO:0020549
name: invasive hydatidiform mole
def: "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." [NCIT:C6985]
subset: ordo_disease {source="Orphanet:99925"}
synonym: "chorioadenoma" EXACT [NCIT:C6985]
synonym: "chorioadenoma Destruens" EXACT [NCIT:C6985]
synonym: "chorioadenoma destruens" EXACT [NCIT:C6985]
synonym: "IHM" RELATED [ONCOTREE:IHM]
synonym: "invasive gestational trophoblastic neoplasm" EXACT [NCIT:C6985]
synonym: "invasive hydatidiform Mole" EXACT [NCIT:C6985]
synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985]
synonym: "invasive Mole" EXACT [NCIT:C6985]
xref: ICD10:D39.2 {source="ORDO:99925/ntbt", source="Orphanet:99925"}
xref: ICDO:9100/1 {source="NCIT:C6985"}
xref: MESH:D002820 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C6985 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.49"}
xref: ONCOTREE:IHM {source="MONDO:equivalentTo"}
xref: Orphanet:99925 {source="MONDO:equivalentTo"}
xref: SCTID:416669000 {source="MONDO:kboom-pr-1.00/0.74/5.80", source="MONDO:equivalentTo"}
xref: UMLS:C0008493 {source="MONDO:equivalentTo", source="NCIT:C6985", source="Orphanet:99925"}
is_a: MONDO:0006248 {source="MESH:D002820", source="MONDO:Redundant", source="NCIT:C6985", source="ONCOTREE:IHM"} ! hydatidiform mole
is_a: MONDO:0018944 {source="MONDOLEX:0020549", source="Orphanet:99925", source="linkedlifedata"} ! gestational trophoblastic neoplasm
property_value: exactMatch http://identifiers.org/mesh/D002820
property_value: exactMatch http://identifiers.org/snomedct/416669000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008493
property_value: exactMatch NCIT:C6985
property_value: exactMatch Orphanet:99925

[Term]
id: MONDO:0020550
name: gestational choriocarcinoma
def: "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term)." [Orphanet:99926]
subset: ordo_disease {source="Orphanet:99926"}
synonym: "gestational choriocarcinoma" EXACT [NCIT:C4646]
synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:2025]
synonym: "gestational chorionepithelioma" EXACT [DOID:2025]
synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025]
xref: DOID:2025 {source="MONDO:equivalentTo"}
xref: ICD10:C58 {source="ORDO:99926/ntbt", source="Orphanet:99926"}
xref: ICD9:181 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:99926 {source="MONDO:equivalentTo"}
xref: SCTID:417570003 {source="DOID:2025", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0349557 {source="DOID:2025", source="MONDO:equivalentTo", source="ORDO:99926/e", source="Orphanet:99926", source="NCIT:C4646"}
is_a: MONDO:0001416 {source="DOID:2025/inferred", source="MONDO:Redundant", source="NCIT:C4646"} ! female reproductive organ cancer
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005207 {source="DOID:2025", source="NCIT:C4646", source="linkedlifedata"} ! choriocarcinoma (disease)
is_a: MONDO:0018944 {source="MONDOLEX:0020550", source="NCIT:C4646", source="Orphanet:99926", source="linkedlifedata"} ! gestational trophoblastic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/1884006
property_value: closeMatch http://identifiers.org/snomedct/417057000
property_value: exactMatch DOID:2025
property_value: exactMatch http://identifiers.org/snomedct/417570003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349557
property_value: exactMatch NCIT:C4646
property_value: exactMatch Orphanet:99926

[Term]
id: MONDO:0020551
name: obsolete hydatidiform mole
is_obsolete: true
replaced_by: MONDO:0006248

[Term]
id: MONDO:0020552
name: placental site trophoblastic tumor
def: "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." [Orphanet:99928]
subset: ordo_disease {source="Orphanet:99928"}
synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757]
synonym: "placental site trophoblastic tumor" EXACT [MONDO:0006911]
synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [DOID:3596]
synonym: "placental-site gestational trophoblastic neoplasm" EXACT [DOID:3596, NCIT:C3757]
synonym: "placental-site gestational trophoblastic tumor" EXACT [NCIT:C3757]
synonym: "placental-site GTT" EXACT [NCIT:C3757]
synonym: "PSST" EXACT [Orphanet:99928]
xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"}
xref: EFO:1001111 {source="MONDO:equivalentTo"}
xref: ICD10:D39.2 {source="ORDO:99928/ntbt", source="Orphanet:99928"}
xref: ICDO:9104/1 {source="NCIT:C3757"}
xref: MESH:D018245 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928"}
xref: NCIT:C3757 {source="DOID:3596", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.45"}
xref: ONCOTREE:PSTT {source="MONDO:equivalentTo"}
xref: Orphanet:99928 {source="MONDO:equivalentTo"}
xref: SCTID:237252008 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0206666 {source="DOID:3596", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928", source="NCIT:C3757"}
is_a: MONDO:0005207 {source="DOID:3596", source="EFO:1001111", source="MESH:D018245"} ! choriocarcinoma (disease)
is_a: MONDO:0018944 {source="MONDOLEX:0020552", source="NCIT:C3757", source="Orphanet:99928", source="linkedlifedata"} ! gestational trophoblastic neoplasm
property_value: closeMatch http://identifiers.org/snomedct/75320001
property_value: exactMatch DOID:3596
property_value: exactMatch http://identifiers.org/mesh/D018245
property_value: exactMatch http://identifiers.org/snomedct/237252008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206666
property_value: exactMatch NCIT:C3757
property_value: exactMatch Orphanet:99928

[Term]
id: MONDO:0020553
name: secondary pulmonary hemosiderosis
def: "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" [Orphanet:99930]
subset: ordo_disease {source="Orphanet:99930"}
xref: ICD10:E83.1+ {source="Orphanet:99930", source="ORDO:99930/ntbt"}
xref: ICD10:J99.8* {source="Orphanet:99930", source="ORDO:99930/ntbt"}
xref: Orphanet:99930 {source="MONDO:equivalentTo"}
xref: SCTID:716712004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C4274326 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017034 {source="Orphanet:99930"} ! secondary interstitial lung disease in childhood and adulthood
relationship: disease_has_feature MONDO:0008346 ! pulmonary hemosiderosis
property_value: exactMatch http://identifiers.org/snomedct/716712004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4274326
property_value: exactMatch Orphanet:99930

[Term]
id: MONDO:0020554
name: Heiner syndrome
def: "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." [Orphanet:99932]
subset: ordo_clinical_subtype {source="Orphanet:99932"}
synonym: "cow's milk hypersensitivity" EXACT [Orphanet:99932]
xref: ICD10:E83.1+ {source="Orphanet:99932", source="ORDO:99932/ntbt"}
xref: ICD10:J99.8* {source="Orphanet:99932", source="ORDO:99932/ntbt"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"}
xref: Orphanet:99932 {source="MONDO:equivalentTo"}
xref: SCTID:707441009 {source="MONDO:kboom-pr-1.00/0.74/6.06", source="MONDO:equivalentTo"}
xref: UMLS:CN207456 {source="MONDO:equivalentTo"}
is_a: MONDO:0020553 {source="Orphanet:99932", source="linkedlifedata"} ! secondary pulmonary hemosiderosis
property_value: exactMatch http://identifiers.org/snomedct/707441009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207456
property_value: exactMatch Orphanet:99932

[Term]
id: MONDO:0020555
name: pleuropulmonary blastoma type 1
def: "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:99933"}
synonym: "type I pleuropulmonary blastoma" EXACT [NCIT:C45626]
xref: ICD10:C34.1 {source="Orphanet:99933", source="ORDO:99933/nd"}
xref: ICD10:C34.2 {source="Orphanet:99933", source="ORDO:99933/nd"}
xref: ICD10:C34.3 {source="Orphanet:99933", source="ORDO:99933/nd"}
xref: ICD10:C34.8 {source="Orphanet:99933", source="ORDO:99933/nd"}
xref: ICD10:C34.9 {source="Orphanet:99933", source="ORDO:99933/nd"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45626 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:99933 {source="MONDO:equivalentTo"}
xref: SCTID:707671008 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:CN207457 {source="MONDO:equivalentTo"}
is_a: MONDO:0011014 {source="MONDOLEX:0020555", source="NCIT:C45626", source="Orphanet:99933", source="linkedlifedata"} ! pleuropulmonary blastoma
property_value: exactMatch http://identifiers.org/snomedct/707671008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207457
property_value: exactMatch NCIT:C45626
property_value: exactMatch Orphanet:99933

[Term]
id: MONDO:0020556
name: pleuropulmonary blastoma type 2
def: "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:99934"}
synonym: "type II pleuropulmonary blastoma" EXACT [NCIT:C45627]
xref: ICD10:C34.1 {source="ORDO:99934/nd", source="Orphanet:99934"}
xref: ICD10:C34.2 {source="ORDO:99934/nd", source="Orphanet:99934"}
xref: ICD10:C34.3 {source="ORDO:99934/nd", source="Orphanet:99934"}
xref: ICD10:C34.8 {source="ORDO:99934/nd", source="Orphanet:99934"}
xref: ICD10:C34.9 {source="ORDO:99934/nd", source="Orphanet:99934"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45627 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:99934 {source="MONDO:equivalentTo"}
xref: SCTID:707672001 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:CN207458 {source="MONDO:equivalentTo"}
is_a: MONDO:0011014 {source="MONDOLEX:0020556", source="NCIT:C45627", source="Orphanet:99934", source="linkedlifedata"} ! pleuropulmonary blastoma
property_value: exactMatch http://identifiers.org/snomedct/707672001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207458
property_value: exactMatch NCIT:C45627
property_value: exactMatch Orphanet:99934

[Term]
id: MONDO:0020557
name: pleuropulmonary blastoma type 3
def: "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." [NCIT:P378]
subset: ordo_clinical_subtype {source="Orphanet:99935"}
synonym: "type III pleuropulmonary blastoma" EXACT [NCIT:C45628]
xref: ICD10:C34.1 {source="ORDO:99935/nd", source="Orphanet:99935"}
xref: ICD10:C34.2 {source="ORDO:99935/nd", source="Orphanet:99935"}
xref: ICD10:C34.3 {source="ORDO:99935/nd", source="Orphanet:99935"}
xref: ICD10:C34.8 {source="ORDO:99935/nd", source="Orphanet:99935"}
xref: ICD10:C34.9 {source="ORDO:99935/nd", source="Orphanet:99935"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C45628 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: Orphanet:99935 {source="MONDO:equivalentTo"}
xref: SCTID:707673006 {source="MONDO:kboom-pr-0.77/0.38/0.73", source="MONDO:equivalentTo"}
xref: UMLS:CN207459 {source="MONDO:equivalentTo"}
is_a: MONDO:0011014 {source="MONDOLEX:0020557", source="NCIT:C45628", source="Orphanet:99935", source="linkedlifedata"} ! pleuropulmonary blastoma
property_value: exactMatch http://identifiers.org/snomedct/707673006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207459
property_value: exactMatch NCIT:C45628
property_value: exactMatch Orphanet:99935

[Term]
id: MONDO:0020558
name: autosomal dominant Charcot-Marie-Tooth disease type 2K
def: "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:99944]
subset: ordo_disease {source="Orphanet:99944"}
synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886]
synonym: "CMT2K" EXACT [Orphanet:99944]
xref: GARD:0009199 {source="MONDO:equivalentTo"}
xref: ICD10:G60.0 {source="Orphanet:99944", source="ORDO:99944/attributed", source="ORDO:99944/ntbt"}
xref: NCIT:C133886 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.20"}
xref: Orphanet:99944 {source="MONDO:equivalentTo"}
xref: SCTID:719512003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842984 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:99944", source="MONDO:equivalentTo"}
xref: UMLS:CN207468 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="Orphanet:99944"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch http://identifiers.org/snomedct/719512003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842984
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207468
property_value: exactMatch NCIT:C133886
property_value: exactMatch Orphanet:99944

[Term]
id: MONDO:0020559
name: O'Sullivan-McLeod syndrome
def: "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." [Orphanet:99965]
subset: ordo_clinical_subtype {source="Orphanet:99965"}
xref: ICD10:G12.8 {source="Orphanet:99965", source="ORDO:99965/ntbt"}
xref: MedDRA:10069682 {source="ORDO:99965/e", source="Orphanet:99965"}
xref: Orphanet:99965 {source="MONDO:equivalentTo"}
xref: UMLS:C2721741 {source="ORDO:99965/e", source="Orphanet:99965", source="MONDO:equivalentTo"}
is_a: MONDO:0011224 {source="Orphanet:99965"} ! monomelic amyotrophy
property_value: exactMatch http://identifiers.org/meddra/10069682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2721741
property_value: exactMatch Orphanet:99965

[Term]
id: MONDO:0020560
name: atypical teratoid rhabdoid tumor
def: "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children." [Orphanet:99966]
subset: ordo_clinical_subtype {source="Orphanet:99966"}
synonym: "AT/RT" EXACT [NCIT:C6906]
synonym: "AT/RT" RELATED [DOID:2129]
synonym: "ATRT" EXACT [Orphanet:99966]
synonym: "ATT/RHT" EXACT [NCIT:C6906]
synonym: "atypical teratoid/rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [DOID:2129]
synonym: "atypical teratoid/rhabdoid tumor (WHO grade IV)" EXACT [NCIT:C6906]
synonym: "central nervous system rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "central nervous system rhabdoid tumor" EXACT [MONDO:patterns/location, NCIT:C6906]
synonym: "CNS rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "CNS rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "malignant brain rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid tumor of brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906]
synonym: "primary malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "primary malignant brain rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid tumor of brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of the central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of the CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of the central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906]
synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129]
xref: DOID:2129 {source="MONDO:equivalentTo"}
xref: EFO:1002008 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="Orphanet:99966", source="ORDO:99966/ntbt"}
xref: ICDO:9508/3 {source="NCIT:C6906"}
xref: NCIT:C6906 {source="DesignPattern", source="MONDO:kboom-pr-0.90/0.77/0.32", source="MONDO:equivalentTo", source="DOID:2129"}
xref: ONCOTREE:ATRT {source="MONDO:equivalentTo"}
xref: Orphanet:99966 {source="MONDO:equivalentTo"}
xref: UMLS:C1266184 {source="NCIT:C6906", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:2129"}
xref: UMLS:CN207484 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002217 ! central nervous system sarcoma
is_a: MONDO:0002728 {source="MONDO:Redundant", source="NCIT:C6906", source="Orphanet:99966"} ! rhabdoid tumor
is_a: MONDO:0016708 {source="Orphanet:99966"} ! embryonal tumor of neuroepithelial tissue
relationship: excluded_subClassOf MONDO:0001657 {source="DOID:2129"} ! brain cancer
property_value: closeMatch http://identifiers.org/snomedct/128792003
property_value: exactMatch DOID:2129
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266184
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207484
property_value: exactMatch NCIT:C6906
property_value: exactMatch Orphanet:99966

[Term]
id: MONDO:0020561
name: myxoid/round cell liposarcoma
def: "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." [Orphanet:99967]
subset: ordo_histopathological_subtype {source="Orphanet:99967"}
synonym: "MRCLS" EXACT [Orphanet:99967]
synonym: "myxoid/round-cell liposarcoma" RELATED [ONCOTREE:MRLS]
xref: ICD10:C49.9 {source="Orphanet:99967", source="ORDO:99967/ntbt"}
xref: ONCOTREE:MRLS {source="MONDO:equivalentTo"}
xref: Orphanet:99967 {source="MONDO:equivalentTo"}
is_a: MONDO:0005060 {source="ONCOTREE:MRLS", source="Orphanet:99967"} ! liposarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206634
property_value: exactMatch Orphanet:99967

[Term]
id: MONDO:0020562
name: pleomorphic liposarcoma
def: "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms)." [Orphanet:99969]
subset: ordo_histopathological_subtype {source="Orphanet:99969"}
synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705]
synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [DOID:5702]
synonym: "PLLS" RELATED [ONCOTREE:PLLS]
synonym: "PLS" EXACT [Orphanet:99969]
xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"}
xref: EFO:0003083 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:99969/ntbt", source="Orphanet:99969"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8854/3 {source="NCIT:C3705"}
xref: NCIT:C3705 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083", source="exact-label-match"}
xref: ONCOTREE:PLLS {source="MONDO:equivalentTo"}
xref: Orphanet:99969 {source="MONDO:equivalentTo"}
xref: SCTID:404071006 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083", source="MONDO:kboom-pr-1.00/0.91/29.31"}
xref: UMLS:C0205825 {source="NCIT:C3705", source="ORDO:99969/e", source="DOID:5702", source="MONDO:equivalentTo", source="Orphanet:99969"}
is_a: MONDO:0005060 {source="DOID:5702", source="EFO:0003083", source="NCIT:C3705", source="ONCOTREE:PLLS", source="Orphanet:99969", source="linkedlifedata"} ! liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/112683004
property_value: exactMatch DOID:5702
property_value: exactMatch http://identifiers.org/snomedct/404071006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205825
property_value: exactMatch NCIT:C3705
property_value: exactMatch Orphanet:99969

[Term]
id: MONDO:0020563
name: Dedifferentiated liposarcoma
def: "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. ." [Orphanet:99970]
subset: ordo_histopathological_subtype {source="Orphanet:99970"}
synonym: "DDLS" EXACT [ONCOTREE:DDLS, Orphanet:99970]
synonym: "Dedifferentiated liposarcoma" EXACT [NCIT:C3704]
xref: EFO:0003085 {source="MONDO:equivalentTo"}
xref: ICD10:C49.9 {source="ORDO:99970/ntbt", source="Orphanet:99970"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8858/3 {source="NCIT:C3704"}
xref: NCIT:C3704 {source="MONDO:equivalentTo", source="EFO:0003085", source="exact-label-match"}
xref: ONCOTREE:DDLS {source="MONDO:equivalentTo"}
xref: Orphanet:99970 {source="MONDO:equivalentTo"}
xref: SCTID:404072004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.27", source="EFO:0003085"}
xref: UMLS:C0205824 {source="NCIT:C3704", source="MONDO:equivalentTo", source="ORDO:99970/e", source="Orphanet:99970"}
is_a: MONDO:0005060 {source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970", source="linkedlifedata"} ! liposarcoma
property_value: closeMatch http://identifiers.org/snomedct/67280001
property_value: exactMatch http://identifiers.org/snomedct/404072004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205824
property_value: exactMatch NCIT:C3704
property_value: exactMatch Orphanet:99970

[Term]
id: MONDO:0020564
name: obsolete well-differentiated liposarcoma
is_obsolete: true
replaced_by: MONDO:0005103

[Term]
id: MONDO:0020565
name: obsolete adenocarcinoma of esophagus
is_obsolete: true
replaced_by: MONDO:0005028

[Term]
id: MONDO:0020566
name: obsolete Klatskin tumor
is_obsolete: true
replaced_by: MONDO:0003345

[Term]
id: MONDO:0020567
name: apnea of prematurity
def: "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." [Orphanet:99981]
subset: ordo_clinical_subtype {source="Orphanet:99981"}
xref: ICD10:P28.4 {source="ORDO:99981/ntbt", source="Orphanet:99981"}
xref: Orphanet:99981 {source="MONDO:equivalentTo"}
xref: SCTID:276544005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0019092 {source="Orphanet:99981"} ! infantile apnea
property_value: exactMatch http://identifiers.org/snomedct/276544005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475715
property_value: exactMatch Orphanet:99981

[Term]
id: MONDO:0020568
name: cutaneous myiasis
subset: ordo_group_of_disorders {source="Orphanet:99983"}
xref: ICD10:B87.0 {source="Orphanet:99983", source="MONDO:equivalentTo", source="ORDO:99983/ntbt"}
xref: Orphanet:99983 {source="MONDO:equivalentTo"}
xref: SCTID:240877000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0027031 {source="Orphanet:99983", source="MONDO:equivalentTo", source="ORDO:99983/e"}
is_a: MONDO:0019147 {source="Orphanet:99983", source="linkedlifedata"} ! myiasis
property_value: exactMatch http://identifiers.org/snomedct/240877000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027031
property_value: exactMatch Orphanet:99983

[Term]
id: MONDO:0020569
name: intermediate DEND syndrome
def: "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." [Orphanet:99989]
subset: ordo_clinical_subtype {source="Orphanet:99989"}
synonym: "developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" EXACT [Orphanet:99989]
xref: Orphanet:99989 {source="MONDO:equivalentTo"}
xref: UMLS:CN207495 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019207 {source="Orphanet:99989"} ! DEND syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207495
property_value: exactMatch Orphanet:99989

[Term]
id: MONDO:0020570
name: obsolete Brill-Zinsser disease
is_obsolete: true
replaced_by: MONDO:0005680

[Term]
id: MONDO:0020571
name: relapsing epidemic typhus
subset: ordo_clinical_subtype {source="Orphanet:99991"}
xref: ICD10:A75.0 {source="ORDO:99991/ntbt", source="Orphanet:99991"}
xref: Orphanet:99991 {source="MONDO:equivalentTo"}
xref: UMLS:CN207497 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019362 {source="MONDOLEX:0020571", source="Orphanet:99991"} ! epidemic louse-borne typhus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207497
property_value: exactMatch Orphanet:99991

[Term]
id: MONDO:0020572
name: complex regional pain syndrome type 2
def: "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." [Orphanet:99994]
subset: ordo_clinical_subtype {source="Orphanet:99994"}
synonym: "causalgia" EXACT [MONDO:0006691, Orphanet:99994]
synonym: "Complex regional pain syndrome II" EXACT [NCIT:C121572]
synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222]
synonym: "CRPS II" EXACT [NCIT:C121572]
xref: DOID:3222 {source="MONDO:equivalentTo", source="EFO:1000854"}
xref: EFO:1000854 {source="MONDO:equivalentTo"}
xref: ICD10:G56.4 {source="Orphanet:99994", source="ORDO:99994/e"}
xref: MedDRA:10007825 {source="EFO:1000854"}
xref: MedDRA:10064335 {source="Orphanet:99994", source="ORDO:99994/e"}
xref: MESH:D002422 {source="DOID:3222", source="MONDO:equivalentTo", source="EFO:1000854"}
xref: NCIT:C121572 {source="DOID:3222", source="MONDO:equivalentTo"}
xref: Orphanet:99994 {source="MONDO:equivalentTo"}
xref: SCTID:408751001 {source="DOID:3222", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.20"}
xref: UMLS:C0007462 {source="Orphanet:99994", source="MEDGEN:kboom-pr98-c99", source="DOID:3222", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0020572", source="NCIT:C121572"} ! syndromic disease
is_a: MONDO:0019369 {source="DOID:3222", source="MESH:D002422", source="Orphanet:99994", source="linkedlifedata"} ! complex regional pain syndrome
property_value: closeMatch http://identifiers.org/meddra/10007825
property_value: closeMatch http://identifiers.org/snomedct/155074001
property_value: closeMatch http://identifiers.org/snomedct/247397004
property_value: closeMatch http://identifiers.org/snomedct/267705008
property_value: closeMatch http://identifiers.org/snomedct/66056001
property_value: exactMatch DOID:3222
property_value: exactMatch http://identifiers.org/meddra/10064335
property_value: exactMatch http://identifiers.org/mesh/D002422
property_value: exactMatch http://identifiers.org/snomedct/408751001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007462
property_value: exactMatch NCIT:C121572
property_value: exactMatch Orphanet:99994

[Term]
id: MONDO:0020573
name: inherited disease susceptibility
def: "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." [MESH:D020022]
subset: predisposition
synonym: "genetic predisposition" RELATED [MESH:D020022]
synonym: "genetic predispositions" RELATED [MESH:D020022]
synonym: "genetic susceptibilities" RELATED [MESH:D020022]
synonym: "genetic susceptibility" RELATED [MESH:D020022]
synonym: "hereditary disease susceptibility" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary predisposition to disease" EXACT [MONDO:patterns/hereditary]
synonym: "predisposition, genetic" RELATED [MESH:D020022]
synonym: "predispositions, genetic" RELATED [MESH:D020022]
synonym: "susceptibilities, genetic" RELATED [MESH:D020022]
synonym: "susceptibility, genetic" RELATED [MESH:D020022]
xref: MESH:D020022 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0042489 ! disease susceptibility
intersection_of: MONDO:0042489 {source="MESH:D020022"} ! disease susceptibility
intersection_of: has_modifier MONDO:0021152 {source="MESH:D020022"} ! inherited
relationship: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D020022
created_by: cjm
creation_date: 2017-09-30T12:01:25Z

[Term]
id: MONDO:0020574
name: central nervous system nongerminomatous germ cell tumor
def: "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C100093]
synonym: "central nervous system nongerminomatous germ cell tumor" EXACT [NCIT:C100093]
synonym: "nongerminomatous GCT - CNS" EXACT [NCIT:C100093]
synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [NCIT:C100093]
xref: NCIT:C100093 {source="MONDO:equivalentTo"}
xref: UMLS:C1696109 {source="MONDO:equivalentTo"}
is_a: MONDO:0003000 {source="NCIT:C100093"} ! central nervous system germ cell tumor
is_a: MONDO:0020539 ! extragonadal non-dysgerminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1696109
property_value: exactMatch NCIT:C100093

[Term]
id: MONDO:0020575
name: polymorphic ventricular tachycardia
def: "A ventricular tachycardia that is irregular in rate and rhythm." [NCIT:C111648]
synonym: "polymorphic ventricular tachycardia" EXACT [NCIT:C111648]
synonym: "ventricular tachycardia, polymorphic" EXACT []
xref: HP:0031677
xref: NCIT:C111648 {source="MONDO:equivalentTo"}
xref: SCTID:251159007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344432 {source="MONDO:equivalentTo"}
is_a: MONDO:0005477 {source="HP:0031677", source="NCIT:C111648"} ! ventricular tachycardia
property_value: exactMatch http://identifiers.org/snomedct/251159007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0344432
property_value: exactMatch NCIT:C111648

[Term]
id: MONDO:0020576
name: cutaneous vasculitis
def: "Inflammation of the blood vessel wall characterized by palpable purpura." [NCIT:C112210]
synonym: "cutaneous vasculitis" EXACT [NCIT:C112210]
xref: NCIT:C112210 {source="MONDO:equivalentTo"}
xref: UMLS:C0262988 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 ! dermatitis
is_a: MONDO:0018882 {source="NCIT:C112210"} ! vasculitis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262988
property_value: exactMatch NCIT:C112210

[Term]
id: MONDO:0020577
name: childhood gonadal germ cell tumor
def: "A germ cell tumor that arises from the testis or ovary and occurs during childhood." [NCIT:C114801]
synonym: "childhood gonadal germ cell tumor" EXACT [NCIT:C114801]
synonym: "gonadal germ cell tumor of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric gonadal germ cell tumor" EXACT [MONDO:patterns/childhood]
synonym: "pediatric gonadal germ cell tumor" RELATED [MONDO:patterns/childhood]
xref: NCIT:C114801 {source="MONDO:equivalentTo"}
xref: UMLS:C3899657 {source="MONDO:equivalentTo"}
is_a: MONDO:0003751 ! childhood germ cell tumor
is_a: MONDO:0018202 ! gonadal germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3899657
property_value: exactMatch NCIT:C114801

[Term]
id: MONDO:0020578
name: obsolete vitamin D deficiency
def: "Abnormally low level of 25-hydroxyvitamin D in the blood." []
synonym: "vitamin D deficiency" EXACT [NCIT:C114830]
xref: NCIT:C114830 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch NCIT:C114830
is_obsolete: true
replaced_by: HP:0100512

[Term]
id: MONDO:0020579
name: mucositis
def: "Inflammation of the mucous membranes." [NCIT:C115965]
synonym: "inflammation of mucosa" EXACT []
synonym: "mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mucositis" EXACT [NCIT:C115965]
xref: NCIT:C115965 {source="MONDO:equivalentTo"}
is_a: MONDO:0021166 {source="NCIT:C115965"} ! inflammatory disease
property_value: exactMatch NCIT:C115965

[Term]
id: MONDO:0020580
name: germinomatous germ cell tumor
def: "A term that refers to germinoma, seminoma, or dysgerminoma." [NCIT:C121618]
synonym: "germinomatous germ cell tumor" EXACT [NCIT:C121618]
xref: NCIT:C121618 {source="MONDO:equivalentTo"}
xref: UMLS:C4054897 {source="NCIT:C121618", source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="NCIT:C121618"} ! germ cell tumor
disjoint_from: MONDO:0021656 ! nongerminomatous germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4054897
property_value: exactMatch NCIT:C121618

[Term]
id: MONDO:0020581
name: benign PEComa
def: "A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures." [NCIT:C121791]
synonym: "benign neoplasm with perivascular epithelioid cell differentiation" EXACT []
synonym: "benign PEComa" EXACT [NCIT:C121791]
synonym: "benign PEComa, nos" EXACT [NCIT:C121791]
synonym: "benign PEComa, not otherwise specified" EXACT [NCIT:C121791]
synonym: "neoplasm with perivascular epithelioid cell differentiation, benign" EXACT [MONDO:patterns/benign]
synonym: "typical PEComa" EXACT [NCIT:C121791]
xref: NCIT:C121791 {source="MONDO:equivalentTo"}
xref: UMLS:C3839685 {source="MONDO:equivalentTo"}
is_a: MONDO:0006359 {source="NCIT:C121791"} ! neoplasm with perivascular epithelioid cell differentiation
is_a: MONDO:0044335 ! benign soft tissue neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3839685
property_value: exactMatch NCIT:C121791

[Term]
id: MONDO:0020582
name: benign uterine ligament neoplasm
def: "A non-metastasizing neoplasm that arises from the uterine ligament." [NCIT:C126493]
synonym: "benign uterine ligament neoplasm" EXACT [NCIT:C126493]
xref: NCIT:C126493 {source="MONDO:equivalentTo"}
xref: UMLS:C0865093 {source="MONDO:equivalentTo"}
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0000644 ! cervical benign neoplasm
is_a: MONDO:0021629 {source="NCIT:C126493"} ! uterine ligament neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0865093
property_value: exactMatch NCIT:C126493

[Term]
id: MONDO:0020583
name: chromosome 17 abnormality
def: "An irregularity in the structure of chromosome 17." [NCIT:C129438]
synonym: "chromosome 17 abnormality" EXACT [NCIT:C129438]
xref: NCIT:C129438 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch NCIT:C129438

[Term]
id: MONDO:0020584
name: anemia due to enzyme disorder
def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme." [NCIT:C35472]
synonym: "anemia due to enzyme disorder" EXACT [NCIT:C35472]
xref: NCIT:C35472 {source="MONDO:equivalentTo"}
xref: UMLS:C0494226 {source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="NCIT:C35472"} ! anemia (disease)
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0494226
property_value: exactMatch NCIT:C35472

[Term]
id: MONDO:0020585
name: anemia due to erythrocyte enzyme disorder
def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." [NCIT:C131630]
synonym: "anemia due to erythrocyte enzyme disorder" EXACT [NCIT:C131630]
xref: NCIT:C131630 {source="MONDO:equivalentTo"}
xref: UMLS:C4329304 {source="MONDO:equivalentTo"}
is_a: MONDO:0020584 {source="NCIT:C131630"} ! anemia due to enzyme disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329304
property_value: exactMatch NCIT:C131630

[Term]
id: MONDO:0020586
name: factor V deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." [NCIT:C131738]
synonym: "factor V deficiency" EXACT [NCIT:C131738]
xref: NCIT:C131738 {source="MONDO:equivalentTo"}
xref: SCTID:4320005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002242 ! coagulation protein disease
property_value: exactMatch http://identifiers.org/snomedct/4320005
property_value: exactMatch NCIT:C131738

[Term]
id: MONDO:0020587
name: factor XI deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." [NCIT:C131739]
synonym: "factor XI deficiency" EXACT [NCIT:C131739]
xref: NCIT:C131739 {source="MONDO:equivalentTo"}
xref: SCTID:767713001 {source="MONDO:equivalentTo"}
is_a: MONDO:0018660 {source="NCIT:C131739"} ! hemophilia
property_value: exactMatch http://identifiers.org/snomedct/767713001
property_value: exactMatch NCIT:C131739

[Term]
id: MONDO:0020588
name: lung PEComa
def: "A lung tumor that arises from perivascular epithelioid cells (PECs)." [NCIT:C142783]
synonym: "lung PEComa" EXACT [NCIT:C142783]
synonym: "lung pecomatous tumor" EXACT [NCIT:C142783]
xref: NCIT:C142783 {source="MONDO:equivalentTo"}
is_a: MONDO:0006359 {source="NCIT:C142783"} ! neoplasm with perivascular epithelioid cell differentiation
is_a: MONDO:0021117 ! lung neoplasm
property_value: exactMatch NCIT:C142783

[Term]
id: MONDO:0020589
name: cardiac germ cell tumor
def: "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." [NCIT:C147005]
synonym: "cardiac germ cell tumor" EXACT [NCIT:C147005]
synonym: "heart germ cell tumor" EXACT [NCIT:C147005]
xref: NCIT:C147005 {source="MONDO:equivalentTo"}
is_a: MONDO:0018201 {source="NCIT:C147005"} ! extragonadal germ cell tumor
is_a: MONDO:0021209 {source="NCIT:C147005"} ! heart neoplasm
property_value: exactMatch NCIT:C147005

[Term]
id: MONDO:0020590
name: mycobacterial infectious disease
def: "Infection due to organisms from the genus Mycobacteria." [NCIT:C26831]
synonym: "mycobacterial infection" EXACT [NCIT:C26831]
synonym: "mycobacteriosis" EXACT []
synonym: "mycobacterium infection" EXACT [NCIT:C26831]
xref: MESH:D009164 {source="MONDO:equivalentTo"}
xref: NCIT:C26831 {source="MONDO:equivalentTo"}
xref: SCTID:88415009 {source="MONDO:equivalentTo"}
xref: UMLS:C0026918 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="NCIT:C26831"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D009164
property_value: exactMatch http://identifiers.org/snomedct/88415009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026918
property_value: exactMatch NCIT:C26831

[Term]
id: MONDO:0020591
name: disease of peritoneum
def: "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [NCIT:C26848]
synonym: "disease of peritoneum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of peritoneum" EXACT []
synonym: "disorder of peritoneum" EXACT [MONDO:patterns/location_top]
synonym: "peritoneal disease" EXACT [NCIT:C26848]
synonym: "peritoneal disorder" EXACT [NCIT:C26848]
synonym: "peritoneum disease" EXACT []
synonym: "peritoneum disease or disorder" EXACT [MONDO:patterns/location]
xref: MESH:D010532 {source="MONDO:equivalentTo"}
xref: NCIT:C26848 {source="MONDO:equivalentTo"}
xref: SCTID:66579008 {source="MONDO:equivalentTo"}
xref: UMLS:C0031142 {source="MONDO:equivalentTo"}
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch http://identifiers.org/mesh/D010532
property_value: exactMatch http://identifiers.org/snomedct/66579008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031142
property_value: exactMatch NCIT:C26848

[Term]
id: MONDO:0020592
name: disease of pharynx
def: "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." [NCIT:C26850]
synonym: "chordate pharynx disease" EXACT []
synonym: "chordate pharynx disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of chordate pharynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of chordate pharynx" EXACT []
synonym: "disorder of chordate pharynx" EXACT [MONDO:patterns/location_top]
synonym: "pharyngeal disease" EXACT []
synonym: "pharyngeal disorder" EXACT [NCIT:C26850]
xref: GARD:0007266 {source="MONDO:equivalentTo"}
xref: NCIT:C26850 {source="MONDO:equivalentTo"}
xref: SCTID:75860007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0024623 {source="NCIT:C26850"} ! otorhinolaryngologic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0553694
property_value: exactMatch http://identifiers.org/snomedct/75860007
property_value: exactMatch NCIT:C26850

[Term]
id: MONDO:0020593
name: trichoblastoma
def: "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." [NCIT:C27132]
synonym: "Brooke's tumor" EXACT [NCIT:C27132]
synonym: "trichoblastoma" EXACT [NCIT:C27132]
synonym: "trichoepithelioma" EXACT [NCIT:C27132]
synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132]
synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132]
synonym: "trichogenic trichoblastoma" EXACT [NCIT:C27132]
xref: ICDO:8100/0 {source="NCIT:C27132"}
xref: NCIT:C27132 {source="MONDO:equivalentTo"}
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349658
property_value: exactMatch NCIT:C27132

[Term]
id: MONDO:0020594
name: abducens nerve disease
def: "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)." [NCIT:C27593]
synonym: "abducens nerve disease" EXACT [NCIT:C27593]
synonym: "abducens nerve disease or disorder" EXACT [MONDO:patterns/location]
synonym: "abducens nerve disorder" EXACT [NCIT:C27593]
synonym: "disease of abducens nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of abducens nerve" EXACT []
synonym: "disorder of abducens nerve" EXACT [MONDO:patterns/location_top]
synonym: "VIth nerve disorder" EXACT [NCIT:C27593]
xref: NCIT:C27593 {source="MONDO:equivalentTo"}
xref: SCTID:398925009 {source="MONDO:equivalentTo"}
is_a: MONDO:0003569 {source="NCIT:C27593"} ! cranial nerve neuropathy
is_a: MONDO:0003620 ! peripheral nervous system disease
property_value: exactMatch http://identifiers.org/snomedct/398925009
property_value: exactMatch NCIT:C27593

[Term]
id: MONDO:0020595
name: disease of retroperitoneum
def: "A disease or disorder that involves the retroperitoneal space." [MONDO:patterns/location]
synonym: "disease of retroperitoneal space" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of retroperitoneal space" EXACT []
synonym: "disorder of retroperitoneal space" EXACT [MONDO:patterns/location_top]
synonym: "retroperitoneal disease" EXACT [NCIT:C27667]
synonym: "retroperitoneal disorder" EXACT [NCIT:C27667]
synonym: "retroperitoneal space disease" EXACT []
synonym: "retroperitoneal space disease or disorder" EXACT [MONDO:patterns/location]
xref: NCIT:C27667 {source="MONDO:equivalentTo"}
xref: SCTID:734045002 {source="MONDO:equivalentTo"}
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335774
property_value: exactMatch http://identifiers.org/snomedct/734045002
property_value: exactMatch NCIT:C27667

[Term]
id: MONDO:0020596
name: mucin-producing carcinoma
synonym: "mucin-producing carcinoma" EXACT [NCIT:C27825]
xref: NCIT:C27825 {source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="NCIT:C27825"} ! carcinoma
is_a: MONDO:0024338 {source="MONDO:cjm"} ! mucinous neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: MONDO:0024338 ! mucinous neoplasm
property_value: exactMatch NCIT:C27825

[Term]
id: MONDO:0020597
name: angiokeratoma of scrotum
def: "An angiokeratoma that is located on the scrotum." [NCIT:C7752]
synonym: "angiokeratoma of fordyce" EXACT [NCIT:C7752]
synonym: "angiokeratoma of scrotum" EXACT [NCIT:C7752]
synonym: "angiokeratoma of the scrotum" EXACT [NCIT:C7752]
synonym: "fordyce angiokeratoma" EXACT [NCIT:C7752]
synonym: "fordyce-type angiokeratoma of scrotum" EXACT [NCIT:C7752]
synonym: "fordyce-type angiokeratoma of the scrotum" EXACT [NCIT:C7752]
synonym: "scrotal angiokeratoma" EXACT [NCIT:C7752]
synonym: "scrotal fordyce-type angiokeratoma" EXACT [NCIT:C7752]
synonym: "scrotum angiokeratoma" EXACT [MONDO:patterns/location]
xref: NCIT:C7752 {source="MONDO:equivalentTo"}
xref: SCTID:735082004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003951 ! scrotal hemangioma
is_a: MONDO:0003954 ! angiokeratoma of Fordyce
property_value: exactMatch http://identifiers.org/snomedct/735082004
property_value: exactMatch NCIT:C7752

[Term]
id: MONDO:0020598
name: malabsorption syndrome
def: "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." [NCIT:C3214]
synonym: "malabsorption" EXACT [NCIT:C3214]
synonym: "malabsorption syndrome" EXACT [NCIT:C3214]
xref: MESH:D008286 {source="MONDO:equivalentTo"}
xref: NCIT:C3214 {source="MONDO:equivalentTo"}
xref: SCTID:32230006 {source="MONDO:equivalentTo"}
xref: UMLS:C0024523 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 ! intestinal disease
property_value: exactMatch http://identifiers.org/mesh/D008286
property_value: exactMatch http://identifiers.org/snomedct/32230006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024523
property_value: exactMatch NCIT:C3214

[Term]
id: MONDO:0020599
name: acquired coagulation factor deficiency
def: "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease." [NCIT:C34347]
synonym: "acquired coagulation factor deficiency" EXACT [NCIT:C34347]
synonym: "acquired coagulation protein disease" EXACT [MONDO:patterns/acquired]
xref: NCIT:C34347 {source="MONDO:equivalentTo"}
xref: SCTID:25904003 {source="MONDO:equivalentTo"}
xref: UMLS:C0001169 {source="MONDO:equivalentTo"}
is_a: MONDO:0002242 {source="NCIT:C34347"} ! coagulation protein disease
intersection_of: MONDO:0002242 ! coagulation protein disease
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/25904003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001169
property_value: exactMatch NCIT:C34347

[Term]
id: MONDO:0020600
name: acute pharyngitis
def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." [NCIT:C34355]
synonym: "acute pharyngitis" EXACT [NCIT:C34355]
synonym: "pharyngitis, acute" EXACT [MONDO:patterns/acute]
xref: NCIT:C34355 {source="MONDO:equivalentTo"}
xref: SCTID:363746003 {source="MONDO:equivalentTo"}
is_a: MONDO:0002258 {source="NCIT:C34355"} ! pharyngitis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/snomedct/363746003
property_value: exactMatch NCIT:C34355

[Term]
id: MONDO:0020601
name: mosquito-borne viral encephalitis
def: "Viral encephalitis that is transmitted by mosquitos." [NCIT:C34823]
synonym: "mosquito-borne viral encephalitis" EXACT [NCIT:C34823]
xref: NCIT:C34823 {source="MONDO:equivalentTo"}
is_a: MONDO:0006009 {source="NCIT:C34823"} ! viral encephalitis
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch NCIT:C34823

[Term]
id: MONDO:0020602
name: Simpson-Golabi-Behmel syndrome type 1
def: "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "bulldog syndrome" EXACT [DOID:0060248]
synonym: "DGSX Golabi-Rosen syndrome" EXACT [DOID:0060248]
synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870]
synonym: "Golabi-Rosen syndrome" RELATED [OMIM:312870]
synonym: "GPC3 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Sgbs" RELATED [OMIM:312870]
synonym: "SGBS1" EXACT [MONDO:Lexical, OMIM:312870, Orphanet:373]
synonym: "Simpson dysmorphia syndrome" EXACT [DOID:0060248, OMIM:312870, Orphanet:373]
synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3" EXACT []
synonym: "Simpson-Golabi-Behmel syndrome type 1" EXACT [Orphanet:373]
synonym: "Simpson-Golabi-Behmel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:312870]
synonym: "Simpson-Golabi-Behmel syndrome, type 1; SGBS1" RELATED [OMIM:312870]
xref: DOID:0060248 {source="MONDO:equivalentTo"}
xref: OMIM:312870 {source="MONDO:equivalentTo"}
is_a: MONDO:0010731 ! Simpson-Golabi-Behmel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796154
property_value: exactMatch DOID:0060248
property_value: exactMatch http://identifiers.org/omim/312870

[Term]
id: MONDO:0020603
name: X-linked chondrodysplasia punctata 2
def: "X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." [Orphanet:35173]
synonym: "CDPX2" EXACT [Orphanet:35173]
synonym: "CDPXD" EXACT [GARD:0006189, OMIM:302960, Orphanet:35173]
synonym: "chondrodysplasia punctata 2 X-linked dominant" RELATED [GARD:0006189]
synonym: "chondrodysplasia punctata 2, X-linked dominant" RELATED [MONDO:Lexical, OMIM:302960]
synonym: "chondrodysplasia punctata 2, X-linked dominant; CDPX2" RELATED [OMIM:302960]
synonym: "chondrodysplasia punctata caused by mutation in EBP" EXACT []
synonym: "Conrad Hunermann Happle syndrome" RELATED [GARD:0006189]
synonym: "Conradi Hunermann syndrome" RELATED [GARD:0006189]
synonym: "Conradi-Hunermann syndrome" RELATED [OMIM:302960]
synonym: "Conradi-Hunermann-Happle syndrome" RELATED [OMIM:302960]
synonym: "Conradi-Hünermann-Happle syndrome" EXACT [Orphanet:35173]
synonym: "EBP chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Happle syndrome" RELATED [GARD:0006189, OMIM:302960]
synonym: "X-linked chondrodysplasia punctata type 2" EXACT [Orphanet:35173]
xref: DOID:0080352 {source="MONDO:equivalentTo"}
xref: GARD:0006189 {source="MONDO:equivalentTo"}
xref: Orphanet:35173 {source="OMIM:302960", source="MONDO:equivalentTo", source="GARD:0006189", source="DOID:0060292"}
is_a: MONDO:0019701 {source="DOID:0080352"} ! chondrodysplasia punctata
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931843
property_value: exactMatch DOID:0080352
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0282102
property_value: exactMatch Orphanet:35173
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant xsd:anyURI {source="GARD:0006189"}

[Term]
id: MONDO:0020604
name: X-linked dominant disease
def: "X-linked dominant form of disease." [MONDO:patterns/x_linked]
xref: DOID:0080009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 {source="DOID:0080009"} ! X-linked disease
disjoint_from: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch DOID:0080009

[Term]
id: MONDO:0020605
name: X-linked recessive disease
def: "X-linked recessive form of disease." [MONDO:patterns/x_linked]
xref: DOID:0080012 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 {source="DOID:0080012"} ! X-linked disease
property_value: exactMatch DOID:0080012

[Term]
id: MONDO:0020606
name: sex-linked disease
synonym: "sex-linked hereditary disorder" EXACT []
xref: ICD9:758.81
xref: SCTID:82852009 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1758"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/snomedct/82852009

[Term]
id: MONDO:0020607
name: Liddle syndrome 1
def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Liddle syndrome" RELATED [OMIM:177200]
synonym: "Liddle syndrome 1; LIDLS1" RELATED [OMIM:177200]
synonym: "Liddle syndrome caused by mutation in SCNN1B" EXACT []
synonym: "LIDLS1" RELATED [OMIM:177200]
synonym: "Pseudoaldosteronism" RELATED [OMIM:177200]
synonym: "SCNN1B Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:177200 {source="MONDO:equivalentTo"}
is_a: MONDO:0008323 {source="OMIM:177200"} ! Liddle syndrome
property_value: exactMatch http://identifiers.org/omim/177200

[Term]
id: MONDO:0020608
name: obsolete blood group--ahonen
comment: Obsoleted as it represents a trait
synonym: "BLOOD GROUP--AHONEN; AN" RELATED [OMIM:110350]
xref: OMIM:110350 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862248
property_value: exactMatch http://identifiers.org/omim/110350
is_obsolete: true

[Term]
id: MONDO:0020609
name: obsolete blood group, colton system
synonym: "BLOOD GROUP, COLTON SYSTEM; CO" RELATED [OMIM:110450]
synonym: "CO" RELATED [OMIM:110450]
synonym: "Colton Blood Group System" RELATED [OMIM:110450]
synonym: "Colton-Null Phenotype" RELATED [OMIM:110450]
xref: OMIM:110450 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292295
property_value: exactMatch http://identifiers.org/omim/110450
is_obsolete: true

[Term]
id: MONDO:0020610
name: obsolete blood group, diego system
synonym: "BLOOD GROUP, DIEGO SYSTEM; DI" RELATED [OMIM:110500]
synonym: "DI" RELATED [OMIM:110500]
synonym: "Diego Blood Group System" RELATED [OMIM:110500]
xref: OMIM:110500 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292286
property_value: exactMatch http://identifiers.org/omim/110500
is_obsolete: true

[Term]
id: MONDO:0020611
name: obsolete blood group--kell system
synonym: "BLOOD GROUP--KELL SYSTEM; KEL" RELATED [OMIM:110900]
synonym: "Blood Group--Kell-Cellano System" RELATED [OMIM:110900]
synonym: "K(0)" RELATED [OMIM:110900]
synonym: "KEL" RELATED [OMIM:110900]
synonym: "Kell-Null" RELATED [OMIM:110900]
synonym: "Ko" RELATED [OMIM:110900]
xref: OMIM:110900 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022546
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862225
property_value: exactMatch http://identifiers.org/omim/110900
is_obsolete: true

[Term]
id: MONDO:0020612
name: obsolete blood group, kidd system
synonym: "BLOOD GROUP, KIDD SYSTEM; JK" RELATED [OMIM:111000]
synonym: "JK" RELATED [OMIM:111000]
synonym: "Kidd Blood Group System" RELATED [OMIM:111000]
xref: OMIM:111000 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022645
property_value: exactMatch http://identifiers.org/omim/111000
is_obsolete: true

[Term]
id: MONDO:0020613
name: obsolete blood group--lke
synonym: "BLOOD GROUP--LKE; LKE" RELATED [OMIM:111130]
synonym: "Blood Group--Luke" RELATED [OMIM:111130]
synonym: "Blood Group--Luke, Formerly" RELATED [OMIM:111130]
synonym: "LKE" RELATED [OMIM:111130]
xref: OMIM:111130 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862216
property_value: exactMatch http://identifiers.org/omim/111130
is_obsolete: true

[Term]
id: MONDO:0020614
name: obsolete blood group--lutheran system
synonym: "Auberger System" RELATED [OMIM:111200]
synonym: "BLOOD GROUP--LUTHERAN SYSTEM; LU" RELATED [OMIM:111200]
synonym: "LU" RELATED [OMIM:111200]
xref: OMIM:111200 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024171
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862213
property_value: exactMatch http://identifiers.org/omim/111200
is_obsolete: true

[Term]
id: MONDO:0020615
name: obsolete blood group system, landsteiner-wiener
synonym: "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW" RELATED [OMIM:111250]
synonym: "Landsteiner-Wiener Blood Group System" RELATED [OMIM:111250]
synonym: "LW" RELATED [OMIM:111250]
xref: OMIM:111250 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887952
property_value: exactMatch http://identifiers.org/omim/111250
is_obsolete: true

[Term]
id: MONDO:0020616
name: obsolete blood group, mn
synonym: "BLOOD GROUP, MN; MN" RELATED [OMIM:111300]
synonym: "Blood Group, Mnss System" RELATED [OMIM:111300]
synonym: "MN" RELATED [OMIM:111300]
synonym: "Mn Blood Group" RELATED [OMIM:111300]
synonym: "Mns Blood Group Systed" RELATED [OMIM:111300]
synonym: "Mnss Blood Group System" RELATED [OMIM:111300]
xref: OMIM:111300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1367455
property_value: exactMatch http://identifiers.org/omim/111300
is_obsolete: true

[Term]
id: MONDO:0020617
name: obsolete blood group--ok
synonym: "BLOOD GROUP--OK; OK" RELATED [OMIM:111380]
synonym: "OK" RELATED [OMIM:111380]
xref: OMIM:111380 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862209
property_value: exactMatch http://identifiers.org/omim/111380
is_obsolete: true

[Term]
id: MONDO:0020618
name: obsolete blood group--private systems
synonym: "antigenic Determinants of Low Frequency in the Population" RELATED [OMIM:111500]
synonym: "BLOOD GROUP--PRIVATE SYSTEMS" RELATED [OMIM:111500]
xref: OMIM:111500 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862206
property_value: exactMatch http://identifiers.org/omim/111500
is_obsolete: true

[Term]
id: MONDO:0020619
name: obsolete blood group, langereis system
synonym: "BLOOD GROUP, LANGEREIS SYSTEM; LAN" RELATED [OMIM:111600]
synonym: "LAN" RELATED [OMIM:111600]
xref: OMIM:111600 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3276339
property_value: exactMatch http://identifiers.org/omim/111600
is_obsolete: true

[Term]
id: MONDO:0020620
name: obsolete blood group, ss
synonym: "BLOOD GROUP, Ss; Ss" RELATED [OMIM:111740]
synonym: "Ss" RELATED [OMIM:111740]
synonym: "Ss Blood Group" RELATED [OMIM:111740]
xref: OMIM:111740 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415374
property_value: exactMatch http://identifiers.org/omim/111740
is_obsolete: true

[Term]
id: MONDO:0020621
name: obsolete blood group--scianna system
synonym: "BLOOD GROUP--SCIANNA SYSTEM; SC" RELATED [OMIM:111750]
synonym: "SC" RELATED [OMIM:111750]
synonym: "Scianna Blood Group" RELATED [OMIM:111750]
xref: OMIM:111750 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292292
property_value: exactMatch http://identifiers.org/omim/111750
is_obsolete: true

[Term]
id: MONDO:0020622
name: obsolete blood group--stoltzfus system
synonym: "BLOOD GROUP--STOLTZFUS SYSTEM; Sf" RELATED [OMIM:111800]
synonym: "Sf" RELATED [OMIM:111800]
xref: OMIM:111800 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862193
property_value: exactMatch http://identifiers.org/omim/111800
is_obsolete: true

[Term]
id: MONDO:0020623
name: obsolete blood group--ul system
synonym: "BLOOD GROUP--Ul SYSTEM; UL" RELATED [OMIM:112000]
synonym: "UL" RELATED [OMIM:112000]
xref: OMIM:112000 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862192
property_value: exactMatch http://identifiers.org/omim/112000
is_obsolete: true

[Term]
id: MONDO:0020624
name: obsolete blood group--waldner type
synonym: "BLOOD GROUP--WALDNER TYPE; WD" RELATED [OMIM:112010]
synonym: "Waldner Blood Group Antigen" RELATED [OMIM:112010]
synonym: "WD" RELATED [OMIM:112010]
xref: OMIM:112010 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862191
property_value: exactMatch http://identifiers.org/omim/112010
is_obsolete: true

[Term]
id: MONDO:0020625
name: obsolete blood group--wright antigen
synonym: "BLOOD GROUP--WRIGHT ANTIGEN; WR" RELATED [OMIM:112050]
synonym: "WR" RELATED [OMIM:112050]
synonym: "Wright Blood Group Antigen" RELATED [OMIM:112050]
xref: OMIM:112050 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862190
property_value: exactMatch http://identifiers.org/omim/112050
is_obsolete: true

[Term]
id: MONDO:0020626
name: obsolete yt blood group antigen
synonym: "Cartwright Antigen" RELATED [OMIM:112100]
synonym: "YT BLOOD GROUP ANTIGEN" RELATED [OMIM:112100]
xref: OMIM:112100 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862189
property_value: exactMatch http://identifiers.org/omim/112100
is_obsolete: true

[Term]
id: MONDO:0020627
name: epileptic encephalopathy, infantile or early childhood
comment: See https://github.com/monarch-initiative/mondo/issues/271
xref: OMIMPS:617711 {source="MONDO:equivalentTo"}
is_a: MONDO:0015650 ! epilepsy syndrome

[Term]
id: MONDO:0020628
name: microcephaly, growth restriction, and increased sister chromatid exchange 2
synonym: "MGRISCE2" RELATED [OMIM:618097]
synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2" RELATED [OMIM:618097]
xref: OMIM:618097 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0020629 {source="OMIM:618097"} ! microcephaly, growth restriction and increased sister chromatid exchange
property_value: exactMatch http://identifiers.org/omim/618097

[Term]
id: MONDO:0020629
name: microcephaly, growth restriction and increased sister chromatid exchange
synonym: "MGRISCE" EXACT []
xref: OMIMPS:210900 {source="MONDO:equivalentTo"}
is_a: MONDO:0015707 {source="MONDO:cjm"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies

[Term]
id: MONDO:0020630
name: epileptic encephalopathy, infantile or early childhood, 1
synonym: "epileptic encephalopathy, infantile or early childhood, 1; IECEE1" RELATED [OMIM:617711]
synonym: "IECEE1" RELATED [OMIM:617711]
xref: OMIM:617711 {source="MONDO:equivalentTo"}
is_a: MONDO:0020627 {source="OMIM:617711"} ! epileptic encephalopathy, infantile or early childhood
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540199
property_value: exactMatch http://identifiers.org/omim/617711

[Term]
id: MONDO:0020631
name: epileptic encephalopathy, infantile or early childhood, 2
synonym: "epileptic encephalopathy, infantile or early childhood, 2" EXACT []
synonym: "epileptic encephalopathy, infantile or early childhood, 2; IECEE2" EXACT [OMIM:617829]
synonym: "IECEE2" RELATED [OMIM:617829]
xref: OMIM:617829 {source="MONDO:equivalentTo"}
xref: UMLS:CN757794 {source="MONDO:equivalentTo"}
is_a: MONDO:0020627 {source="OMIM:617829"} ! epileptic encephalopathy, infantile or early childhood
property_value: exactMatch http://identifiers.org/omim/617829
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757794

[Term]
id: MONDO:0020632
name: epileptic encephalopathy, infantile or early childhood, 3
synonym: "epileptic encephalopathy, infantile or early childhood, 3" EXACT [OMIM:618012]
synonym: "epileptic encephalopathy, infantile or early childhood, 3; IECEE3" EXACT [OMIM:618012]
synonym: "IECEE3" RELATED [OMIM:618012]
xref: OMIM:618012 {source="MONDO:equivalentTo"}
xref: UMLS:CN248521 {source="MONDO:equivalentTo"}
is_a: MONDO:0020627 {source="OMIM:618012"} ! epileptic encephalopathy, infantile or early childhood
property_value: exactMatch http://identifiers.org/omim/618012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248521

[Term]
id: MONDO:0020633
name: anaplastic cancer
synonym: "anaplastic malignant neoplasm" EXACT [NCIT:C36025]
xref: NCIT:C36025 {source="MONDO:equivalentTo"}
xref: UMLS:C1332287 {source="MONDO:equivalentTo", source="NCIT:C36025"}
is_a: MONDO:0004992 {source="NCIT:C36025"} ! cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332287
property_value: exactMatch NCIT:C36025

[Term]
id: MONDO:0020634
name: grade III meningioma
def: "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." [NCIT:C38938]
synonym: "grade 3 meningioma" EXACT [NCIT:C38938]
synonym: "grade III meningioma" EXACT [NCIT:C38938]
synonym: "meningioma, malignant" EXACT [NCIT:C38938]
synonym: "WHO grade III meningioma" EXACT [NCIT:C38938]
xref: NCIT:C38938 {source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="NCIT:C38938"} ! meningioma (disease)
intersection_of: MONDO:0016642 {source="NCIT:C38938"} ! meningioma (disease)
intersection_of: has_modifier MONDO:0024493 {source="NCIT:C38938"} ! tumor grade 3, general grading system
relationship: has_modifier MONDO:0024493 ! tumor grade 3, general grading system
property_value: exactMatch NCIT:C38938

[Term]
id: MONDO:0020635
name: anaplastic meningioma
def: "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." [NCIT:C4051]
synonym: "anaplastic (malignant) meningioma" EXACT [NCIT:C4051]
synonym: "anaplastic meningioma" EXACT [NCIT:C4051]
synonym: "malignant meningioma" EXACT [NCIT:C4051]
synonym: "meningioma, anaplastic, malignant" EXACT [NCIT:C4051]
synonym: "meningioma, malignant" EXACT [NCIT:C4051]
xref: ICDO:9530/3 {source="NCIT:C4051"}
xref: NCIT:C4051 {source="MONDO:equivalentTo", source="ONCOTREE:ANM"}
xref: ONCOTREE:ANM {source="MONDO:equivalentTo"}
is_a: MONDO:0020633 {source="NCIT:C4051"} ! anaplastic cancer
is_a: MONDO:0020634 {source="NCIT:C4051"} ! grade III meningioma
is_a: MONDO:0020665 ! high grade malignant neoplasm
is_a: MONDO:0021322 {source="NCIT:C4051"} ! malignant tumor of meninges
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0259785
property_value: exactMatch NCIT:C4051

[Term]
id: MONDO:0020636
name: mendelian susceptibility to mycobacterial diseases due to a complete deficiency
subset: predisposition
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
disjoint_from: MONDO:0020637 ! mendelian susceptibility to mycobacterial diseases due to a partial deficiency

[Term]
id: MONDO:0020637
name: mendelian susceptibility to mycobacterial diseases due to a partial deficiency
subset: predisposition
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases

[Term]
id: MONDO:0020638
name: superficial spreading melanoma
def: "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." [NCIT:C9152]
synonym: "cutaneous superficial spreading melanoma" EXACT [NCIT:C9152]
synonym: "pagetoid melanoma" EXACT [NCIT:C9152]
synonym: "SSM" EXACT [NCIT:C9152]
synonym: "superficial spreading cutaneous (skin) melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant melanoma of skin" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant melanoma of the skin" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant skin melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma of skin" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma of the skin" EXACT [NCIT:C9152]
xref: ICDO:8743/3 {source="NCIT:C9152"}
xref: NCIT:C9152 {source="MONDO:equivalentTo"}
xref: SCTID:254730000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005012 {source="NCIT:C9152"} ! cutaneous melanoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334438
property_value: exactMatch http://identifiers.org/snomedct/254730000
property_value: exactMatch NCIT:C9152

[Term]
id: MONDO:0020639
name: monosomy
def: "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." [NCIT:C3239]
synonym: "monosomy" EXACT [NCIT:C3239]
xref: MESH:D009006 {source="MONDO:equivalentTo"}
xref: NCIT:C3239 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/D009006
property_value: exactMatch NCIT:C3239

[Term]
id: MONDO:0020640
name: autoimmune encephalitis
def: "Inflammation of the brain secondary to an immune response triggered by the body itself." [NCIT:C122414]
subset: gard_rare
synonym: "autoimmune encephalitis" EXACT [NCIT:C122414]
xref: GARD:0011979 {source="MONDO:equivalentTo"}
xref: NCIT:C122414 {source="MONDO:equivalentTo"}
xref: SCTID:95643007 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0019956 {source="NCIT:C122414"} ! encephalitis
property_value: exactMatch http://identifiers.org/snomedct/95643007
property_value: exactMatch NCIT:C122414

[Term]
id: MONDO:0020641
name: respiratory tract neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." [NCIT:C3355]
synonym: "neoplasm of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "neoplasm of the respiratory tract" EXACT [NCIT:C3355]
synonym: "neoplasm, respiratory tract" EXACT [MESH:D012142]
synonym: "neoplasms, respiratory tract" EXACT [MESH:D012142]
synonym: "respiratory system neoplasm" EXACT [EFO:0003853]
synonym: "respiratory tract neoplasm" EXACT [MESH:D012142, NCIT:C3355]
synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "tract neoplasm, respiratory" EXACT [MESH:D012142]
synonym: "tract neoplasms, respiratory" EXACT [MESH:D012142]
synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "tumor of the respiratory tract" EXACT [NCIT:C3355]
xref: EFO:0003853 {source="MONDO:equivalentTo"}
xref: MESH:D012142 {source="MONDO:equivalentTo"}
xref: NCIT:C3355 {source="MONDO:equivalentTo"}
xref: SCTID:126667002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 ! neoplasm (disease)
is_a: MONDO:0005087 {source="MESH:D012142", source="NCIT:C3355"} ! respiratory system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035244
property_value: exactMatch http://identifiers.org/mesh/D012142
property_value: exactMatch http://identifiers.org/snomedct/126667002
property_value: exactMatch NCIT:C3355

[Term]
id: MONDO:0020642
name: polycystic kidney disease
def: "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." [NCIT:C75464]
synonym: "fibrocystic renal disease" EXACT [NCIT:C75464]
synonym: "PKD - polycystic kidney disease" EXACT [NCIT:C75464]
synonym: "polycystic kidney disease" EXACT [NCIT:C75464, OMIMPS:173900]
xref: DOID:0080322 {source="MONDO:equivalentTo"}
xref: NCIT:C75464 {source="MONDO:equivalentTo"}
xref: OMIMPS:173900 {source="DOID:898", source="MONDO:equivalentTo"}
xref: SCTID:82525005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002473 {source="DOID:0080322", source="NCIT:C75464"} ! cystic kidney disease
property_value: exactMatch DOID:0080322
property_value: exactMatch http://identifiers.org/snomedct/82525005
property_value: exactMatch NCIT:C75464

[Term]
id: MONDO:0020643
name: autism susceptibility 1
subset: predisposition
synonym: "AUTS1" EXACT []
xref: OMIM:209850 {source="MONDO:equivalentTo"}
is_a: MONDO:0005260 {source="OMIM:209850"} ! autism (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004352
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1510586
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1968924
property_value: exactMatch http://identifiers.org/omim/209850

[Term]
id: MONDO:0020644
name: lung non-Hodgkin lymphoma
def: "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." [NCIT:C5684]
synonym: "lung non-Hodgkin lymphoma" EXACT [MONDO:patterns/location, NCIT:C5684]
synonym: "lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684]
synonym: "non-Hodgkin lymphoma of lung" EXACT []
synonym: "primary lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684]
xref: NCIT:C5684 {source="MONDO:equivalentTo"}
xref: UMLS:C1334453 {source="NCIT:C5684", source="MONDO:equivalentTo"}
is_a: MONDO:0003987 {source="NCIT:C5684"} ! lung lymphoma
is_a: MONDO:0018908 {source="NCIT:C5684"} ! non-Hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334453
property_value: exactMatch NCIT:C5684

[Term]
id: MONDO:0020645
name: autosomal dominant osteopetrosis
def: "Autosomal dominant form of osteopetrosis (disease)." [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant osteopetrosis (disease)" EXACT []
synonym: "OPTA" EXACT []
synonym: "osteopetrosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: OMIMPS:607634 {source="MONDO:equivalentTo"}
xref: UMLS:C4272579 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0017198 ! osteopetrosis (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4272579

[Term]
id: MONDO:0020646
name: ocular adnexal lymphoma
def: "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type." [NCIT:C88145]
synonym: "non-Hodgkin lymphoma of ocular adnexa" EXACT []
synonym: "OAL" EXACT [NCIT:C88145]
synonym: "ocular adnexa non-Hodgkin lymphoma" EXACT [MONDO:patterns/location]
synonym: "ocular adnexal lymphoma" EXACT [NCIT:C88145]
xref: NCIT:C88145 {source="MONDO:equivalentTo"}
xref: UMLS:C2981712 {source="MONDO:equivalentTo"}
is_a: MONDO:0000462 ! eye adnexa disease
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0018908 {source="NCIT:C88145"} ! non-Hodgkin lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2981712
property_value: exactMatch NCIT:C88145

[Term]
id: MONDO:0020647
name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
synonym: "MFRG" RELATED [OMIM:618142]
synonym: "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome; MFRG" EXACT [OMIM:618142]
xref: OMIM:618142 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618142

[Term]
id: MONDO:0020648
name: rubella encephalitis
xref: SCTID:192689006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020068 ! postinfectious encephalitis
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_arises_from_feature MONDO:0004656 ! rubella
relationship: disease_arises_from_feature MONDO:0004656 ! rubella
property_value: exactMatch http://identifiers.org/snomedct/192689006

[Term]
id: MONDO:0020649
name: warty carcinoma of the penis
def: "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases." [NCIT:C6981]
synonym: "condylomatous carcinoma of penis" EXACT [NCIT:C6981]
synonym: "condylomatous carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "condylomatous penile squamous cell carcinoma" EXACT [NCIT:C6981]
synonym: "condylomatous squamous cell carcinoma of penis" EXACT [NCIT:C6981]
synonym: "condylomatous squamous cell carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of penis, condylomatous type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of penis, warty type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of the penis, condylomatous type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of the penis, warty type" EXACT [NCIT:C6981]
synonym: "warty carcinoma of penis" EXACT [NCIT:C6981]
synonym: "warty carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "warty penile squamous cell carcinoma" EXACT [NCIT:C6981]
synonym: "warty squamous cell carcinoma of penis" EXACT [NCIT:C6981]
synonym: "warty squamous cell carcinoma of the penis" EXACT [NCIT:C6981]
xref: NCIT:C6981 {source="MONDO:equivalentTo", source="ONCOTREE:WPSCC"}
xref: ONCOTREE:WPSCC {source="MONDO:equivalentTo"}
is_a: MONDO:0004433 {source="NCIT:C6981"} ! papillary carcinoma of the penis
is_a: MONDO:0020656 {source="NCIT:C6981"} ! human papillomavirus-related penile squamous cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1337009
property_value: exactMatch NCIT:C6981

[Term]
id: MONDO:0020650
name: germ cell tumor of the vulva
xref: ONCOTREE:VGCT {source="MONDO:equivalentTo"}
is_a: MONDO:0005040 ! germ cell tumor
is_a: MONDO:0021049 ! vulvar neoplasm

[Term]
id: MONDO:0020651
name: mixed germ cell tumor of vulva
xref: ONCOTREE:VMGCT {source="MONDO:equivalentTo"}
is_a: MONDO:0001528 ! vulva cancer
is_a: MONDO:0015864 ! mixed germ cell tumor
is_a: MONDO:0020650 {source="ONCOTREE:VMGCT"} ! germ cell tumor of the vulva

[Term]
id: MONDO:0020652
name: immature teratoma of vulva
xref: ONCOTREE:VIMT {source="MONDO:equivalentTo"}
is_a: MONDO:0020650 {source="ONCOTREE:VIMT"} ! germ cell tumor of the vulva
is_a: MONDO:0024746 ! immature teratoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334520

[Term]
id: MONDO:0020653
name: vaginal adenocarcinoma
def: "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma." [NCIT:C7981]
synonym: "adenocarcinoma of the vagina" EXACT [NCIT:C7981]
synonym: "adenocarcinoma of vagina" EXACT [NCIT:C7981]
synonym: "vagina adenocarcinoma" EXACT [NCIT:C7981]
synonym: "vaginal adenocarcinoma" EXACT [NCIT:C7981]
xref: NCIT:C7981 {source="MONDO:equivalentTo", source="ONCOTREE:VA"}
xref: ONCOTREE:VA {source="MONDO:equivalentTo"}
is_a: MONDO:0001704 {source="NCIT:C7981"} ! vaginal glandular neoplasm
is_a: MONDO:0004970 {source="NCIT:C7981"} ! adenocarcinoma
is_a: MONDO:0015867 {source="NCIT:C7981"} ! vaginal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0279668
property_value: exactMatch NCIT:C7981

[Term]
id: MONDO:0020654
name: renal pelvis/ureter urothelial carcinoma
def: "A transitional cell carcinoma that arises from the renal pelvis and ureter." [NCIT:C7716]
synonym: "renal pelvis and ureter TCC" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter transitional cell cancer" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C7716]
synonym: "TCC of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "TCC of the renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell cancer of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell cancer of the renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell carcinoma of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "urothelial carcinoma of the renal pelvis and ureter" EXACT [NCIT:C7716]
xref: NCIT:C7716 {source="MONDO:equivalentTo", source="ONCOTREE:UTUC"}
is_a: MONDO:0040679 {source="NCIT:C7716"} ! urothelial carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220648
property_value: exactMatch NCIT:C7716

[Term]
id: MONDO:0020655
name: juvenile ankylosing spondylitis
xref: DOID:0040092 {source="MONDO:equivalentTo"}
xref: SCTID:239805001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005306 ! ankylosing spondylitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409675
property_value: exactMatch DOID:0040092
property_value: exactMatch http://identifiers.org/snomedct/239805001

[Term]
id: MONDO:0020656
name: human papillomavirus-related penile squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma." [NCIT:C27682]
synonym: "HPV-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papilloma virus related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papilloma virus-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papillomavirus-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
xref: NCIT:C27682 {source="MONDO:equivalentTo"}
is_a: MONDO:0018352 {source="NCIT:C27682"} ! squamous cell carcinoma of penis
is_a: MONDO:0020657 {source="NCIT:C27682"} ! human papillomavirus-related squamous cell carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334056
property_value: exactMatch NCIT:C27682

[Term]
id: MONDO:0020657
name: human papillomavirus-related squamous cell carcinoma
synonym: "HPV-related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papilloma virus related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papilloma virus-related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papillomavirus-related squamous cell carcinoma" EXACT [NCIT:C27683]
xref: NCIT:C27683 {source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="NCIT:C27683"} ! squamous cell carcinoma
is_a: MONDO:0017341 ! virus associated tumor
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_arises_from_feature MONDO:0005161 ! human papilloma virus infection
relationship: disease_arises_from_feature MONDO:0005161 ! human papilloma virus infection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1334057
property_value: exactMatch NCIT:C27683

[Term]
id: MONDO:0020658
name: infiltrating ureter transitional cell carcinoma
xref: DOID:6845 {source="MONDO:equivalentTo"}
is_a: MONDO:0004010 ! infiltrating renal pelvis/ureter urothelial carcinoma
is_a: MONDO:0004030 {source="DOID:6845"} ! ureter transitional cell carcinoma
property_value: exactMatch DOID:6845

[Term]
id: MONDO:0020659
name: upper tract urothelial carcinoma
xref: ONCOTREE:UTUC {source="MONDO:equivalentTo"}
is_a: MONDO:0020654 ! renal pelvis/ureter urothelial carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220648

[Term]
id: MONDO:0020660
name: osteoblastic osteosarcoma
def: "A conventional osteosarcoma characterized by the predominance of osteoid matrix." [NCIT:C53953]
synonym: "osteoblastic osteosarcoma" EXACT [NCIT:C53953]
xref: NCIT:C53953 {source="MONDO:equivalentTo"}
is_a: MONDO:0002631 {source="NCIT:C53953"} ! conventional osteosarcoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704328
property_value: exactMatch NCIT:C53953

[Term]
id: MONDO:0020661
name: undifferentiated round cell sarcoma
def: "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio." [NCIT:C121799]
synonym: "undifferentiated round cell sarcoma" EXACT [NCIT:C121799]
xref: NCIT:C121799 {source="MONDO:equivalentTo"}
is_a: MONDO:0018078 ! soft tissue sarcoma
property_value: exactMatch NCIT:C121799

[Term]
id: MONDO:0020662
name: borderline ovarian serous tumor
def: "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." [NCIT:C5226]
synonym: "borderline ovarian serous neoplasm" EXACT [NCIT:C5226]
synonym: "borderline ovarian serous tumor" EXACT [NCIT:C5226]
synonym: "borderline serous neoplasm of ovary" EXACT [NCIT:C5226]
synonym: "borderline serous neoplasm of the ovary" EXACT [NCIT:C5226]
synonym: "borderline serous tumor of ovary" EXACT [NCIT:C5226]
synonym: "borderline serous tumor of the ovary" EXACT [NCIT:C5226]
synonym: "ovarian serous neoplasm of low malignant potential" EXACT [NCIT:C5226]
synonym: "ovarian serous tumor of low malignant potential" EXACT [NCIT:C5226]
synonym: "proliferating ovarian serous neoplasm" EXACT [NCIT:C5226]
synonym: "proliferating ovarian serous tumor" EXACT [NCIT:C5226]
synonym: "proliferating serous neoplasm of ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous neoplasm of the ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous tumor of ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous tumor of the ovary" EXACT [NCIT:C5226]
synonym: "serous neoplasm of ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous neoplasm of the ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous ovarian neoplasm of low malignant potential" EXACT [NCIT:C5226]
synonym: "serous ovarian tumor of low malignant potential" EXACT [NCIT:C5226]
synonym: "serous tumor of ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous tumor of the ovary with low malignant potential" EXACT [NCIT:C5226]
xref: NCIT:C5226 {source="MONDO:equivalentTo"}
is_a: MONDO:0016093 {source="NCIT:C5226"} ! borderline epithelial tumor of ovary
is_a: MONDO:0037255 {source="NCIT:C5226"} ! ovarian serous tumor
intersection_of: MONDO:0016093 ! borderline epithelial tumor of ovary
intersection_of: MONDO:0037255 ! ovarian serous tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332598
property_value: exactMatch NCIT:C5226

[Term]
id: MONDO:0020663
name: malignant spindle cell neoplasm
def: "A malignant neoplasm characterized by the presence of atypical spindle cells." [NCIT:C27091]
synonym: "malignant spindle cell neoplasm" EXACT [NCIT:C27091]
synonym: "malignant spindle cell tumor" EXACT [NCIT:C27091]
synonym: "spindle cell cancer" EXACT [NCIT:C27091]
xref: NCIT:C27091 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0020664 {source="NCIT:C27091"} ! spindle cell neoplasm
property_value: exactMatch NCIT:C27091

[Term]
id: MONDO:0020664
name: spindle cell neoplasm
def: "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCIT:C27263]
synonym: "spindle cell neoplasm" EXACT [NCIT:C27263]
synonym: "spindle cell tumor" EXACT [NCIT:C27263]
xref: EFO:0000705 {source="MONDO:equivalentTo"}
xref: NCIT:C27263 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 ! neoplasm (disease)
property_value: exactMatch NCIT:C27263

[Term]
id: MONDO:0020665
name: high grade malignant neoplasm
synonym: "high grade malignant neoplasm" EXACT [NCIT:C36046]
xref: NCIT:C36046 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 ! cancer
intersection_of: MONDO:0004992 {source="NCIT:C36046"} ! cancer
intersection_of: has_modifier MONDO:0024497 {source="NCIT:C36046"} ! tumor grade 3 or 4, general grading system
relationship: has_modifier MONDO:0024497 ! tumor grade 3 or 4, general grading system
property_value: exactMatch NCIT:C36046

[Term]
id: MONDO:0020666
name: Löfgren syndrome
def: "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain." [https://en.wikipedia.org/wiki/L%C3%B6fgren_syndrome]
synonym: "Loefgrens syndrome" EXACT []
synonym: "Löfgrens syndrome" EXACT []
xref: SCTID:238676008 {source="MONDO:equivalentTo"}
is_a: MONDO:0019338 {source="https://en.wikipedia.org/wiki/L%C3%B6fgren_syndrome"} ! sarcoidosis
property_value: exactMatch http://identifiers.org/snomedct/238676008

[Term]
id: MONDO:0020667
name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
synonym: "ABS2" RELATED [OMIM:207410]
synonym: "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; ABS2" RELATED [OMIM:207410]
synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410]
synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410]
synonym: "trapezoidocephaly-synostosis Syndrome" RELATED [OMIM:207410]
xref: OMIM:207410 {source="MONDO:equivalentTo"}
is_a: MONDO:0008803 ! Antley-Bixler syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2936791
property_value: exactMatch http://identifiers.org/omim/207410

[Term]
id: MONDO:0020668
name: obsolete spastic paraplegia 5B
subset: gard_rare
synonym: "moved to 270800" RELATED [OMIM:600146]
synonym: "SPG5B" RELATED [GARD:0004917]
xref: GARD:0004917 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:600146 {source="MONDO:obsoleteEquivalent", source="GARD:0004917"}
property_value: exactMatch http://identifiers.org/omim/600146
is_obsolete: true
replaced_by: MONDO:0010047

[Term]
id: MONDO:0020669
name: paranasal sinus cancer
def: "A primary or metastatic malignant neoplasm involving the paranasal sinuses." [NCIT:C7487]
synonym: "malignant accessory sinus neoplasm" EXACT [NCIT:C7487]
synonym: "malignant accessory sinus tumor" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of the accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of the paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant paranasal sinus neoplasm" EXACT [NCIT:C7487]
synonym: "malignant paranasal sinus tumor" EXACT [NCIT:C7487]
synonym: "malignant tumor of accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of the accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of the paranasal sinus" EXACT [NCIT:C7487]
xref: NCIT:C7487 {source="MONDO:equivalentTo"}
is_a: MONDO:0000376 ! respiratory system cancer
is_a: MONDO:0000649 ! sensory system cancer
is_a: MONDO:0002132 ! skull cancer
is_a: MONDO:0005289 {source="NCIT:C7487"} ! paranasal sinus neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153474
property_value: exactMatch NCIT:C7487

[Term]
id: MONDO:0020670
name: antithrombin deficiency type 2
subset: gard_rare
synonym: "antithrombin deficiency type 2" RELATED [GARD:0010182]
synonym: "antithrombmin III deficiency Type II" RELATED [GARD:0010182]
synonym: "Inherited antithrombin deficiency type II" RELATED [GARD:0010182]
xref: GARD:0010182 {source="MONDO:equivalentTo"}
xref: MESH:C537779 {source="MONDO:equivalentTo", source="GARD:0010182"}
is_a: MONDO:0002305 {source="MESH:C537779"} ! thrombophilia
property_value: exactMatch http://identifiers.org/mesh/C537779

[Term]
id: MONDO:0020671
name: susceptibility to ischemic stroke
subset: predisposition
synonym: "cerebral infarction" RELATED [OMIM:601367]
synonym: "cerebrovascular accident" RELATED [OMIM:601367]
synonym: "stroke, ischemic" RELATED [OMIM:601367]
xref: OMIM:601367 {source="MONDO:equivalentTo"}
is_a: MONDO:0005098 ! stroke disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0948008
property_value: exactMatch http://identifiers.org/omim/601367

[Term]
id: MONDO:0020672
name: vascular occlusion disorder
def: "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." [https://en.wikipedia.org/wiki/Vascular_occlusion]
synonym: "vascular occlusion" EXACT [https://en.wikipedia.org/wiki/Vascular_occlusion]
is_a: MONDO:0005385 ! vascular disease

[Term]
id: MONDO:0020673
name: arterial occlusion
def: "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart." [NCIT:C35318]
synonym: "arterial obstruction" EXACT [NCIT:C35318]
synonym: "arterial occlusion" EXACT [NCIT:C35318]
xref: NCIT:C35318 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 {source="NCIT:C35318"} ! arterial disorder
is_a: MONDO:0020672 ! vascular occlusion disorder
property_value: exactMatch NCIT:C35318

[Term]
id: MONDO:0020674
name: vascular insufficiency disorder
synonym: "vascular insufficiency" EXACT []
xref: SCTID:86341008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 ! vascular disease
property_value: exactMatch http://identifiers.org/snomedct/86341008

[Term]
id: MONDO:0020675
name: ischemic bowel disease
def: "Disease of the large or small intestine that is caused by inadequate blood supply." [NCIT:C35212]
synonym: "ischemic bowel disease" EXACT [NCIT:C35212]
xref: NCIT:C35212 {source="MONDO:equivalentTo"}
is_a: MONDO:0005020 ! intestinal disease
is_a: MONDO:0005053 {source="NCIT:C35212"} ! ischemic disease
property_value: exactMatch NCIT:C35212

[Term]
id: MONDO:0020676
name: disease of central nervous system or retinal vasculature
comment: Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease
synonym: "central nervous system or retinal vascular disease" EXACT []
synonym: "retina/CNS vascular disease" EXACT []
is_a: MONDO:0005385 ! vascular disease

[Term]
id: MONDO:0020677
name: sudden hearing loss disorder
xref: SCTID:79471008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 ! hearing loss disorder
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/snomedct/79471008

[Term]
id: MONDO:0020678
name: sensorineural hearing loss disorder
def: "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." [https://en.wikipedia.org/wiki/Sensorineural_hearing_loss]
synonym: "neurosensory deafness" RELATED []
synonym: "sensorineural deafness" EXACT [NCIT:C26739]
synonym: "sensorineural hearing loss" EXACT [NCIT:C26739]
synonym: "SNHL" EXACT [https://en.wikipedia.org/wiki/Sensorineural_hearing_loss, NCIT:C26739]
xref: HP:0000407
xref: NCIT:C26739 {source="MONDO:equivalentTo"}
xref: SCTID:60700002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="NCIT:C26739"} ! hearing loss disorder
property_value: exactMatch http://identifiers.org/snomedct/60700002
property_value: exactMatch NCIT:C26739

[Term]
id: MONDO:0020679
name: conductive hearing loss disorder
def: "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." [NCIT:C27645]
synonym: "conductive deafness" EXACT [NCIT:C27645]
synonym: "conductive deafness" RELATED []
synonym: "conductive hearing loss" EXACT [NCIT:C27645]
xref: NCIT:C27645 {source="MONDO:equivalentTo"}
xref: SCTID:44057004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="NCIT:C27645"} ! hearing loss disorder
property_value: exactMatch http://identifiers.org/snomedct/44057004
property_value: exactMatch NCIT:C27645

[Term]
id: MONDO:0020680
name: acute bronchiolitis
def: "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." [NCIT:C39659]
synonym: "acute Bronchiolitis" RELATED [NCIT:C39659]
synonym: "acute bronchiolitis" EXACT [NCIT:C39659]
synonym: "acute bronchiolitis" RELATED [UMLS:C0001311]
synonym: "acute capillary bronchiolitis" RELATED [UMLS:C0001311]
synonym: "Capillary pneumonia" RELATED [UMLS:C0001311]
synonym: "capillary pneumonia" RELATED []
xref: ICD9:466.1 {source="linkedlife"}
xref: ICD9:466.19 {source="linkedlife"}
xref: NCIT:C39659 {source="MONDO:equivalentTo", source="UMLS:C0001311"}
xref: SCTID:5505005 {source="MONDO:equivalentTo", source="UMLS:C0001311"}
xref: UMLS:C0001311 {source="MONDO:equivalentTo"}
is_a: MONDO:0002465 {source="NCIT:C39659", source="UMLS:C0001311"} ! bronchiolitis (disease)
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/snomedct/5505005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001311
property_value: exactMatch NCIT:C39659

[Term]
id: MONDO:0020681
name: Ehlers-Danlos syndrome, musculocontractural type 1
synonym: "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome" RELATED [OMIM:601776]
synonym: "adducted thumb-clubfoot syndrome" RELATED [OMIM:601776]
synonym: "Arthrogryposis, Distal, with peculiar facies and hydronephrosis" RELATED [OMIM:601776]
synonym: "Dundar syndrome" RELATED [OMIM:601776]
synonym: "EDSMC" RELATED [OMIM:601776]
synonym: "EDSMC1" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776]
xref: OMIM:601776 {source="MONDO:equivalentTo"}
is_a: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866294
property_value: exactMatch http://identifiers.org/omim/601776

[Term]
id: MONDO:0020682
name: Ehlers-Danlos syndrome, progeroid type 1
synonym: "dermatan sulfate proteoglycan" RELATED [OMIM:130070]
synonym: "EDSSPD1" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome with Short stature and Limb anomalies" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type, 1" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type, 1, formerly" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1" RELATED [OMIM:130070]
synonym: "galactosyltransferase 1 deficiency" RELATED [OMIM:130070]
synonym: "Pds, defective biosynthesis of" RELATED [OMIM:130070]
synonym: "proteodermatan sulfate, defective biosynthesis of" RELATED [OMIM:130070]
synonym: "Xgpt deficiency" RELATED [OMIM:130070]
synonym: "xylosylprotein 4-Beta-galactosyltransferase deficiency" RELATED [OMIM:130070]
xref: OMIM:130070 {source="MONDO:equivalentTo"}
is_a: MONDO:0007526 ! Ehlers-Danlos syndrome progeroid type
property_value: exactMatch http://identifiers.org/omim/130070

[Term]
id: MONDO:0020683
name: acute disease
def: "Disease having a short and relatively severe course." [MESH:D000208]
synonym: "acute Disease" RELATED [MSH:D000208]
synonym: "acute disease" EXACT []
synonym: "acute disease" RELATED [UMLS:C0001314]
synonym: "acute Diseases" RELATED [MESH:D000208, MSH:D000208]
synonym: "Disease, Acute" RELATED [MESH:D000208, MSH:D000208]
synonym: "Diseases, Acute" RELATED [MESH:D000208, MSH:D000208]
xref: ICD9:799.89 {source="linkedlife"}
xref: MESH:D000208 {source="MONDO:equivalentTo", source="UMLS:C0001314"}
xref: SCTID:2704003 {source="MONDO:equivalentTo", source="UMLS:C0001314"}
xref: UMLS:C0001314 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
property_value: exactMatch http://identifiers.org/mesh/D000208
property_value: exactMatch http://identifiers.org/snomedct/2704003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001314

[Term]
id: MONDO:0020684
name: Ehlers-Danlos syndrome, periodontal type 1
synonym: "EDS 8" RELATED [OMIM:130080]
synonym: "EDSPD1" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontal type, 1" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontal type, 1; EDSPD1" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontitis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080]
xref: OMIM:130080 {source="MONDO:equivalentTo"}
is_a: MONDO:0007527 {source="ORDO:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268347
property_value: exactMatch http://identifiers.org/omim/130080

[Term]
id: MONDO:0020685
name: infratentorial ependymal tumor
def: "An ependymal tumor arising from the infratentorial region of the brain." [NCIT:C131612]
synonym: "infratentorial ependymal tumor" EXACT [NCIT:C131612]
xref: NCIT:C131612 {source="MONDO:equivalentTo"}
is_a: MONDO:0004245 {source="NCIT:C131612"} ! ependymal tumor of brain
property_value: exactMatch NCIT:C131612

[Term]
id: MONDO:0020686
name: acute adenoiditis
def: "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." [NCIT:C97142]
synonym: "acute Tonsillitis" RELATED [NCIT:C97142]
synonym: "acute tonsillitis" EXACT [NCIT:C97142]
synonym: "acute tonsillitis" RELATED [UMLS:C0001361]
synonym: "Infective tonsillitis" RELATED [UMLS:C0001361]
xref: ICD9:463 {source="linkedlife"}
xref: NCIT:C97142 {source="UMLS:C0001361", source="MONDO:equivalentTo"}
xref: SCTID:17741008 {source="UMLS:C0001361", source="MONDO:equivalentTo"}
xref: UMLS:C0001361 {source="MONDO:equivalentTo"}
is_a: MONDO:0000261 ! adenoiditis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/snomedct/17741008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001361
property_value: exactMatch NCIT:C97142

[Term]
id: MONDO:0020687
name: supratentorial ependymal tumor
def: "An ependymal tumor arising from the supratentorial region of the brain." [NCIT:C131611]
synonym: "supratentorial ependymal tumor" EXACT [NCIT:C131611]
xref: NCIT:C131611 {source="MONDO:equivalentTo"}
is_a: MONDO:0004245 {source="NCIT:C131611"} ! ependymal tumor of brain
property_value: exactMatch NCIT:C131611

[Term]
id: MONDO:0020688
name: spinal cord ischemia
def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue." [MESH:D020760]
synonym: "cord ischemia, spinal" RELATED [MESH:D020760]
synonym: "cord Ischemias, spinal" RELATED [MESH:D020760]
synonym: "experimental spinal cord ischemia" RELATED [MESH:D020760]
synonym: "ischemia, spinal cord" RELATED [MESH:D020760]
synonym: "ischemias, spinal cord" RELATED [MESH:D020760]
synonym: "ischemic myelopathies" RELATED [MESH:D020760]
synonym: "ischemic myelopathy" RELATED [MESH:D020760]
synonym: "myelopathies, ischemic" RELATED [MESH:D020760]
synonym: "myelopathy, ischemic" RELATED [MESH:D020760]
synonym: "spinal cord ischemia, experimental" RELATED [MESH:D020760]
synonym: "spinal cord Ischemias" RELATED [MESH:D020760]
xref: MESH:D020760 {source="MONDO:equivalentTo"}
is_a: MONDO:0005098 ! stroke disorder
property_value: exactMatch http://identifiers.org/mesh/D020760

[Term]
id: MONDO:0020689
name: AIDS dementia complex
def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526]
subset: gard_rare
synonym: "Acquired immune deficiency syndrome dementia complex" RELATED [EFO:0002608, UMLS:C0001849]
synonym: "acquired immune deficiency syndrome dementia complex" RELATED []
synonym: "Acquired immune deficiency syndrome-related dementia" RELATED [UMLS:C0001849]
synonym: "acquired immune deficiency syndrome-related dementia" RELATED []
synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" RELATED [MESH:D015526, MSH:D015526]
synonym: "ADC" RELATED [GARD:0008250]
synonym: "ADC - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849]
synonym: "AIDS - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849]
synonym: "AIDS Dementia" RELATED [NCIT:C2864]
synonym: "AIDS dementia" EXACT [NCIT:C2864]
synonym: "AIDS Dementia Complex" RELATED [MSH:D015526]
synonym: "AIDS dementia complex" RELATED [EFO:0002608]
synonym: "AIDS Encephalopathies" RELATED [MESH:D015526]
synonym: "AIDS Encephalopathy" RELATED [MESH:D015526]
synonym: "AIDS RELAT DEMENTIA COMPLEX" RELATED [MSH:D015526]
synonym: "AIDS related cognitive impairment" RELATED [GARD:0008250]
synonym: "AIDS related Dementia Complex" RELATED [MESH:D015526, MSH:D015526]
synonym: "AIDS with dementia (disorder)" RELATED [EFO:0002608]
synonym: "AIDS-related Dementia Complex" RELATED [MESH:D015526, MSH:D015526]
synonym: "Complex, AIDS Dementia" RELATED [MESH:D015526, MSH:D015526]
synonym: "Complex, AIDS-related Dementia" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementia associated with acquired immunodeficiency syndrome" RELATED [UMLS:C0001849]
synonym: "Dementia associated with AIDS" RELATED [UMLS:C0001849]
synonym: "DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME" RELATED [MSH:D015526]
synonym: "DEMENTIA COMPLEX AIDS RELAT" RELATED [MSH:D015526]
synonym: "Dementia Complex, Acquired Immune Deficiency Syndrome" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementia Complex, AIDS" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementia Complex, AIDS related" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementia Complex, AIDS-related" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementia, HIV" RELATED [MESH:D015526, MSH:D015526]
synonym: "Dementias, HIV" RELATED [MESH:D015526, MSH:D015526]
synonym: "Encephalopathies, AIDS" RELATED [MESH:D015526]
synonym: "Encephalopathies, HIV" RELATED [MESH:D015526]
synonym: "Encephalopathy, AIDS" RELATED [MESH:D015526]
synonym: "Encephalopathy, HIV" RELATED [MESH:D015526]
synonym: "HIV 1 Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV 1 Cognitive and Motor Complex" RELATED [MESH:D015526]
synonym: "HIV ASSOC COGNITIVE MOTOR COMPLEX" RELATED [MSH:D015526]
synonym: "HIV associated cognitive and motor complex" RELATED [EFO:0002608]
synonym: "HIV Associated Cognitive Motor Complex" RELATED [MESH:D015526, MSH:D015526]
synonym: "HIV Dementia" RELATED [MESH:D015526, MSH:D015526]
synonym: "HIV Dementias" RELATED [MESH:D015526, MSH:D015526]
synonym: "HIV encephalitis" RELATED [EFO:0002608]
synonym: "HIV Encephalopathies" RELATED [MESH:D015526]
synonym: "HIV Encephalopathy" RELATED [MESH:D015526]
synonym: "HIV-1 Cognitive and Motor Complex" RELATED [MESH:D015526]
synonym: "HIV-1-Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV-Associated Cognitive Motor Complex" RELATED [MESH:D015526, MSH:D015526]
synonym: "HIV-associated dementia" RELATED [EFO:0002608]
xref: EFO:0002608 {source="MONDO:equivalentTo"}
xref: GARD:0008250 {source="MONDO:equivalentTo"}
xref: ICD9:294.8 {source="linkedlife"}
xref: MESH:D015526 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: NCIT:C2864 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: SCTID:421529006 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: UMLS:C0001849 {source="MONDO:equivalentTo", source="GARD:0008250"}
is_a: MONDO:0001627 ! dementia (disease)
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0001627 ! dementia (disease)
intersection_of: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease
relationship: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease
relationship: has_modifier MONDO:0021136 {source="GARD:0008250"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D015526
property_value: exactMatch http://identifiers.org/snomedct/421529006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001849
property_value: exactMatch NCIT:C2864

[Term]
id: MONDO:0020690
name: adult glioblastoma
synonym: "adult glioblastoma" EXACT [NCIT:C9094]
synonym: "adult glioblastoma multiforme" EXACT [NCIT:C9094]
synonym: "glioblastoma" EXACT [NCIT:C9094]
synonym: "grade iv adult astrocytic neoplasm" EXACT [NCIT:C9094]
synonym: "grade iv adult astrocytic tumor" EXACT [NCIT:C9094]
xref: NCIT:C9094 {source="MONDO:equivalentTo"}
is_a: MONDO:0004320 {source="NCIT:C9094"} ! adult infiltrating astrocytic neoplasm
is_a: MONDO:0018177 {source="NCIT:C9094"} ! glioblastoma (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0278878
property_value: exactMatch NCIT:C9094

[Term]
id: MONDO:0020692
name: spondylocostal dysostosis 1, autosomal recessive
synonym: "SCDO1" RELATED [OMIM:277300]
synonym: "spondylocostal dysostosis 1, autosomal recessive; SCDO1" RELATED [OMIM:277300]
synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [OMIM:277300]
synonym: "spondylothoracic dysplasia" RELATED DEPRECATED [OMIM:277300]
synonym: "vertebral anomalies" RELATED [OMIM:277300]
xref: OMIM:277300 {source="MONDO:equivalentTo"}
is_a: MONDO:0010180 {source="OMIM:277300"} ! autosomal recessive spondylocostal dysostosis
property_value: exactMatch http://identifiers.org/omim/277300

[Term]
id: MONDO:0020693
name: glycogen storage disease due to liver phosphorylase kinase deficiency
def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:264580]
subset: ordo_disease {source="Orphanet:264580"}
xref: ICD10:E74.0 {source="Orphanet:264580"}
xref: Orphanet:264580 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disease
is_a: MONDO:0018251 {source="Orphanet:264580"} ! glycogen storage disease due to phosphorylase kinase deficiency
relationship: has_modifier MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: exactMatch Orphanet:264580

[Term]
id: MONDO:0020694
name: salivary gland epithelial myoepithelial carcinoma
def: "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." [NCIT:C35701]
synonym: "salivary gland epithelial myoepithelial carcinoma" EXACT [NCIT:C35701]
xref: NCIT:C35701 {source="MONDO:equivalentTo"}
is_a: MONDO:0000521 {source="NCIT:C35701"} ! salivary gland carcinoma
is_a: MONDO:0003389 {source="NCIT:C35701"} ! epithelial-myoepithelial carcinoma
property_value: exactMatch NCIT:C35701

[Term]
id: MONDO:0020695
name: hypotonic cerebral palsy
def: "A type of cerebral palsy characterized by decreased muscle tone." [NCIT:C116906]
synonym: "hypotonic cerebral palsy" EXACT [NCIT:C116906]
xref: NCIT:C116906 {source="MONDO:equivalentTo"}
xref: SCTID:192958009 {source="MONDO:equivalentTo"}
is_a: MONDO:0006497 {source="NCIT:C116906"} ! cerebral palsy
property_value: exactMatch http://identifiers.org/snomedct/192958009
property_value: exactMatch NCIT:C116906

[Term]
id: MONDO:0020696
name: vitamin B12 deficiency
def: "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." [MONDO:cjm, PMID:16846473]
synonym: "cobalamin deficiency" EXACT []
synonym: "hypocobalaminemia" EXACT [NCIT:C131684]
synonym: "vitamin b12 deficiency" EXACT [NCIT:C131684]
xref: HP:0100502 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D014806 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C131684 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:190634004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.77/6.14"}
xref: UMLS:C0042847 {source="MONDO:equivalentTo", source="NCIT:C131684"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0042976 {source="NCIT:C131684"} ! vitamin B deficiency
property_value: exactMatch http://identifiers.org/mesh/D014806
property_value: exactMatch http://identifiers.org/snomedct/190634004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042847
property_value: exactMatch NCIT:C131684

[Term]
id: MONDO:0020697
name: lung epithelial-myoepithelial carcinoma
def: "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative." [NCIT:C45545]
synonym: "lung epithelial-myoepithelial cancer" EXACT [NCIT:C45545]
synonym: "lung epithelial-myoepithelial carcinoma" EXACT [NCIT:C45545]
xref: NCIT:C45545 {source="MONDO:equivalentTo"}
is_a: MONDO:0003389 {source="NCIT:C45545"} ! epithelial-myoepithelial carcinoma
is_a: MONDO:0005138 {source="NCIT:C45545"} ! lung carcinoma
property_value: exactMatch NCIT:C45545

[Term]
id: MONDO:0020698
name: inborn error of biotin metabolism
is_a: MONDO:0000461 ! nutritional biotin deficiency
is_a: MONDO:0000688 ! inherited organic acidemia
is_a: MONDO:0005528 ! inborn vitamin metabolic disorder

[Term]
id: MONDO:0020699
name: biotin metabolic disease
def: "A deficiency in biotin through either inherited or acquired causes." [https://en.wikipedia.org/wiki/Biotin_deficiency, PMID:12459313]
is_a: MONDO:0045022 ! disorder of organic acid metabolism
is_a: MONDO:0056803 ! sulfur metabolism disease

[Term]
id: MONDO:0020700
name: obsolete microcephaly, short stature, and impaired glucose metabolism
is_obsolete: true
replaced_by: MONDO:0000208

[Term]
id: MONDO:0020701
name: brachydactyly type A1A
synonym: "BDA1" RELATED [OMIM:112500]
synonym: "BRACHYDACTYLY, type A1; BDA1" RELATED [OMIM:112500]
synonym: "Farabee-type Brachydactyly" RELATED [OMIM:112500]
xref: OMIM:112500 {source="MONDO:equivalentTo"}
is_a: MONDO:0007215 ! brachydactyly type A1
property_value: exactMatch http://identifiers.org/omim/112500

[Term]
id: MONDO:0020702
name: autosomal dominant epidermolytic ichthyosis
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0007239 ! epidermolytic hyperkeratosis

[Term]
id: MONDO:0020703
name: erythroid neoplasm
synonym: "erythroid neoplasm" EXACT [NCIT:C7064]
synonym: "erythroid tumor" EXACT [NCIT:C7064]
xref: NCIT:C7064 {source="MONDO:equivalentTo"}
is_a: MONDO:0020076 ! myeloproliferative neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333438
property_value: exactMatch NCIT:C7064

[Term]
id: MONDO:0020704
name: inherited rippling muscle disease
def: "Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." [Orphanet:97238]
subset: gard_rare {source="GARD:0009164"}
subset: ordo_disease
synonym: "rippling muscle disease" BROAD [MONDO:Lexical, OMIM:606072]
synonym: "rippling muscle disease; RMD" BROAD [OMIM:606072]
synonym: "RMD" BROAD [MONDO:Lexical, OMIM:606072]
xref: GARD:0009164 {source="MONDO:equivalentTo"}
xref: ICD10:G71.8 {source="Orphanet:97238"}
xref: MedDRA:10069417 {source="Orphanet:97238"}
xref: Orphanet:97238 {source="MONDO:equivalentTo"}
is_a: MONDO:0011634 ! rippling muscle disease
is_a: MONDO:0016146 {source="Orphanet:97238", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
intersection_of: MONDO:0011634 ! rippling muscle disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:97238

[Term]
id: MONDO:0020705
name: neural tube defects, susceptibility to
subset: predisposition
synonym: "neural tube defects, SUSCEPTIBILITY to; NTD" RELATED [OMIM:182940]
synonym: "NTD" RELATED [OMIM:182940]
synonym: "spina bifida" RELATED [OMIM:182940]
xref: OMIM:182940 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0018075 ! neural tube defect
relationship: predisposes_towards MONDO:0018075 ! neural tube defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3891448
property_value: exactMatch http://identifiers.org/omim/182940

[Term]
id: MONDO:0020706
name: Heberden's node
def: "Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis." [NCIT:C34671]
synonym: "Heberden's node" EXACT [NCIT:C34671]
synonym: "tuberculum arthriticum" EXACT [NCIT:C34671]
xref: NCIT:C34671 {source="MONDO:equivalentTo"}
xref: SCTID:239869009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002181 {source="NCIT:C34671"} ! exostosis
property_value: exactMatch http://identifiers.org/snomedct/239869009
property_value: exactMatch NCIT:C34671

[Term]
id: MONDO:0020707
name: central hearing loss
def: "Hearing loss resulting from disorders of the central nervous system auditory pathways." [NCIT:C34662]
synonym: "central hearing loss" EXACT [NCIT:C34662]
xref: NCIT:C34662 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="NCIT:C34662"} ! hearing loss disorder
property_value: exactMatch NCIT:C34662

[Term]
id: MONDO:0020708
name: brachial amyotrophic diplegia
def: "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." [NCIT:C133085]
synonym: "BAD" BROAD AMBIGUOUS [NCIT:C133085]
synonym: "brachial amyotrophic diplegia" EXACT [NCIT:C133085]
synonym: "FAS" EXACT [PMID:26056822, PMID:26705123]
synonym: "flail arm syndrome" EXACT [PMID:26056822, PMID:26705123]
synonym: "man-in-barrel syndrome" EXACT [PMID:26056822, PMID:26705123]
xref: NCIT:C133085 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="NCIT:C133085"} ! neurodegenerative disease
property_value: exactMatch NCIT:C133085

[Term]
id: MONDO:0020709
name: Majocchi granuloma
def: "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities." [doi:10.2147/IDR.S145027]
synonym: "Majocchi's granuloma" EXACT [doi:10.2147/IDR.S145027]
is_a: MONDO:0004678 ! dermatophytosis

[Term]
id: MONDO:0020710
name: amnionitis
def: "Inflammation of the amnion." [NCIT:C50459]
synonym: "Amnionitides" RELATED [MSH:D002821]
synonym: "Amnionitis" RELATED [MSH:D002821, NCIT:C50459, SNOMEDCT_US:10573002]
synonym: "amnionitis" EXACT [NCIT:C50459]
synonym: "amnionitis" RELATED []
synonym: "Amniotic cavity infection" RELATED [UMLS:C0002631]
synonym: "amniotic cavity infection" RELATED []
synonym: "Infection of amniotic cavity" RELATED [UMLS:C0002631]
synonym: "infection of amniotic cavity" EXACT []
xref: ICD9:658.40 {source="linkedlife"}
xref: NCIT:C50459 {source="MONDO:equivalentTo", source="UMLS:C0002631"}
xref: SCTID:10573002 {source="MONDO:equivalentTo", source="UMLS:C0002631"}
xref: UMLS:C0002631 {source="MONDO:equivalentTo"}
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0045013 {source="linkedlife"} ! disease of extraembryonic membrane
property_value: exactMatch http://identifiers.org/snomedct/10573002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002631
property_value: exactMatch NCIT:C50459

[Term]
id: MONDO:0020711
name: selective peripheral resistance to thyroid hormone
def: "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary." [MONDO:cjm, PMID:8475937]
synonym: "PerRTH" EXACT [PMID:8475937]
is_a: MONDO:0001328 {source="PMID:8475937"} ! thyroid hormone resistance syndrome
relationship: has_modifier MONDO:0021136 {source="PMID:8475937"} ! rare

[Term]
id: MONDO:0020712
name: 46,XY sex reversal 1
synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [OMIM:400044]
synonym: "46,XY sex reversal 1" EXACT [MONDO:Lexical, OMIM:400044]
synonym: "46,XY sex reversal 1; SRXY1" EXACT [OMIM:400044]
synonym: "46,XY sex reversal type 1" EXACT [MONDORULE:1, OMIM:400044]
synonym: "46,XY sex reversal, SRY-related" EXACT [OMIM:400044]
synonym: "46,XY true hermaphroditism, SRY-related" EXACT [OMIM:400044]
synonym: "SRXY1" EXACT [MONDO:Lexical, OMIM:400044]
xref: OMIM:400044 {source="MONDO:equivalentTo"}
is_a: MONDO:0010765 ! 46,XY complete gonadal dysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748896
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748897
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748898
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2748899
property_value: exactMatch http://identifiers.org/omim/400044

[Term]
id: MONDO:0020713
name: pulmonary venoocclusive disease 1
synonym: "pulmonary venoocclusive disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:265450]
synonym: "pulmonary venoocclusive disease 1, autosomal dominant; PVOD1" RELATED [OMIM:265450]
synonym: "PVOD1" EXACT [MONDO:Lexical, OMIM:265450]
xref: OMIM:265450 {source="MONDO:equivalentTo"}
is_a: MONDO:0009937 ! pulmonary venoocclusive disease
property_value: exactMatch http://identifiers.org/omim/265450

[Term]
id: MONDO:0020714
name: mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
xref: OMIM:251900 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 ! inborn mitochondrial myopathy
property_value: exactMatch http://identifiers.org/omim/251900

[Term]
id: MONDO:0020715
name: Multiple system atrophy 1, susceptibility to
synonym: "MSA1" EXACT [MONDO:Lexical, OMIM:146500]
synonym: "Msa1, susceptibility to" EXACT [OMIM:146500]
synonym: "multiple system atrophy 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:146500]
synonym: "multiple system atrophy 1, susceptibility to; MSA1" EXACT [OMIM:146500]
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007803 ! multiple system atrophy

[Term]
id: MONDO:0020716
name: familial thyroid dyshormonogenesis 1
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 1" EXACT [OMIM:274400]
synonym: "iodine accumulation, transport, or trapping defect" EXACT [OMIM:274400]
synonym: "TDH1" EXACT [MONDO:Lexical, OMIM:274400]
synonym: "thyroid dyshormonogenesis 1" EXACT [MONDO:Lexical, OMIM:274400]
synonym: "thyroid dyshormonogenesis 1; TDH1" EXACT [OMIM:274400]
synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1, OMIM:274400]
synonym: "thyroid hormonogenesis, genetic defect in, 1" EXACT [OMIM:274400]
xref: OMIM:274400 {source="MONDO:equivalentTo"}
is_a: MONDO:0010132 ! familial thyroid dyshormonogenesis
property_value: exactMatch http://identifiers.org/omim/274400

[Term]
id: MONDO:0020717
name: autosomal dominant woolly hair
synonym: "ADWH" RELATED [MONDO:Lexical, OMIM:194300]
xref: OMIM:194300 {source="ORDO:170/e", source="MONDO:equivalentTo", source="Orphanet:170"}
is_a: MONDO:0008686 ! isolated familial woolly hair disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1860238
property_value: exactMatch http://identifiers.org/omim/194300

[Term]
id: MONDO:0020718
name: congenital short bowel syndrome 1
synonym: "congenital short bowel syndrome" BROAD [MONDO:Lexical, OMIM:615237]
synonym: "congenital short bowel syndrome; CSBS" BROAD [OMIM:615237]
synonym: "CSBS" EXACT [MONDO:Lexical, OMIM:615237]
xref: OMIM:615237 {source="MONDO:equivalentTo"}
xref: UMLS:C0021847 {source="OMIM:615237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0014097 {source="MONDO:prototype"} ! congenital short bowel syndrome
property_value: exactMatch http://identifiers.org/omim/615237
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021847

[Term]
id: MONDO:0020719
name: susceptibility to Hirschsprung disease
synonym: "HSCR" RELATED []
xref: OMIMPS:142623 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0018309 ! Hirschsprung disease
relationship: predisposes_towards MONDO:0018309 ! Hirschsprung disease

[Term]
id: MONDO:0020720
name: X-linked hypophosphatemic rickets (recessive or dominant)
is_a: MONDO:0000044 ! hereditary hypophosphatemic rickets
is_a: MONDO:0000425 ! X-linked disease

[Term]
id: MONDO:0020721
name: X-linked sideroblastic anemia 1
synonym: "anemia, sideroblastic, 1" RELATED [OMIM:300751]
synonym: "anemia, sideroblastic, 1; SIDBA1" RELATED [OMIM:300751]
synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751]
synonym: "anemia, sideroblastic, X-linked; XLSA" RELATED [OMIM:300751]
synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751]
synonym: "SIDBA1" RELATED [OMIM:300751]
xref: OMIM:300751 {source="MONDO:equivalentTo"}
xref: UMLS:C0221018 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300751"}
is_a: MONDO:0010419 {source="MONDO:prototype"} ! X-linked sideroblastic anemia
property_value: exactMatch http://identifiers.org/omim/300751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221018

[Term]
id: MONDO:0020722
name: nephrolithiasis susceptibility caused by SLC26A1
synonym: "CAON" RELATED [OMIM:167030]
synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
synonym: "nephrolithiasis, calcium oxalate; CAON" RELATED [OMIM:167030]
synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
xref: OMIM:167030 {source="MONDO:equivalentTo", source="DOID:585"}
xref: UMLS:C1833683 {source="MONDO:subClassOf", source="OMIM:167030", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008171 ! nephrolithiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3665655
property_value: exactMatch http://identifiers.org/omim/167030
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833683

[Term]
id: MONDO:0020723
name: vitamin D-dependent rickets, type 1A
synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:264700]
synonym: "1-Alpha-Hydroxylase deficiency" RELATED [OMIM:264700]
synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [OMIM:264700]
synonym: "PDDR 1A" RELATED [OMIM:264700]
synonym: "pseudovitamin D-deficiency rickets, type 1A" RELATED [OMIM:264700]
synonym: "VDDR1A" RELATED [MONDO:Lexical, OMIM:264700]
synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700]
synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical, OMIM:264700]
synonym: "vitamin D hydroxylation-deficient rickets, type 1A; VDDR1A" RELATED [OMIM:264700]
synonym: "vitamin D-dependent rickets, type 1A" RELATED [OMIM:264700]
xref: OMIM:264700 {source="ORDO:289157/e", source="Orphanet:289157", source="MONDO:equivalentTo"}
xref: UMLS:C0268689 {source="MONDO:subClassOf", source="MEDGEN:kboom-pr98-c99", source="Orphanet:289157", source="NCIT:C131073", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264700"}
is_a: MONDO:0009924 {source="MONDO:prototype"} ! vitamin D-dependent rickets, type 1
property_value: exactMatch http://identifiers.org/omim/264700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268689

[Term]
id: MONDO:0020724
name: familial cerebral cavernous malformation 1
synonym: "cavernous angioma, familial" RELATED [OMIM:116860]
synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860]
synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860]
synonym: "CCM" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "cerebral capillary malformations" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "cerebral cavernous malformations 1" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformations; CCM" RELATED [OMIM:116860]
synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860]
xref: OMIM:116860 {source="MONDO:equivalentTo", source="ORDO:221061/e", source="Orphanet:221061"}
is_a: MONDO:0007291 {source="MONDO:prototype"} ! familial cerebral cavernous malformation
relationship: excluded_subClassOf MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant"} ! cerebral cavernous malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1366911
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861785
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861786
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2919945
property_value: exactMatch http://identifiers.org/omim/116860

[Term]
id: MONDO:0020725
name: anemia due to chronic disorder
def: "Anemia due to a disorder that is persistent or long-standing in nature." [NCIT:C35659]
synonym: "anemia due to Chronic Disorder" RELATED [NCIT:C35659]
synonym: "anemia due to chronic disorder" EXACT [NCIT:C35659]
synonym: "anemia of chronic disease" EXACT [NCIT:C35659]
synonym: "anemia of chronic disease" RELATED [UMLS:C0002873]
synonym: "anemia of chronic disorder" RELATED [UMLS:C0002873]
synonym: "anemia of chronic illness" EXACT [NCIT:C35659]
synonym: "anemia of chronic inflammation" EXACT [NCIT:C35659]
synonym: "anemia of systemic disease" RELATED [UMLS:C0002873]
synonym: "Secondary anemia" RELATED [UMLS:C0002873]
xref: ICD9:285.29 {source="linkedlife"}
xref: NCIT:C35659 {source="MONDO:equivalentTo", source="UMLS:C0002873"}
xref: SCTID:234347009 {source="MONDO:equivalentTo", source="UMLS:C0002873"}
xref: UMLS:C0002873 {source="MONDO:equivalentTo"}
is_a: MONDO:0002280 {source="NCIT:C35659"} ! anemia (disease)
property_value: exactMatch http://identifiers.org/snomedct/234347009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002873
property_value: exactMatch NCIT:C35659

[Term]
id: MONDO:0020726
name: medullary cystic kidney disease 1
synonym: "Mckd" RELATED [OMIM:174000]
synonym: "MCKD1" RELATED [MONDO:Lexical, OMIM:174000]
synonym: "medullary cystic kidney disease 1" RELATED [MONDO:Lexical, OMIM:174000]
synonym: "medullary cystic kidney disease 1; MCKD1" RELATED [OMIM:174000]
synonym: "medullary cystic kidney disease type 1" RELATED [MONDORULE:1, OMIM:174000]
synonym: "medullary cystic kidney disease, autosomal dominant" RELATED [OMIM:174000]
synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000]
xref: NCIT:C123171 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"}
xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="GARD:0010801", source="ORDO:34149/e"}
xref: UMLS:C1868139 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174000"}
is_a: MONDO:0008264 {source="MONDO:prototype"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
property_value: exactMatch http://identifiers.org/omim/174000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1868139
property_value: exactMatch NCIT:C123171

[Term]
id: MONDO:0020727
name: combined oxidative phosphorylation deficiency 22
subset: n_of_one
synonym: "combined oxidative phosphorylation deficiency 22" RELATED [MONDO:Lexical, OMIM:616045]
synonym: "combined oxidative phosphorylation deficiency 22; COXPD22" RELATED [OMIM:616045]
synonym: "combined oxidative phosphorylation deficiency type 22" RELATED [MONDORULE:2, OMIM:616045]
synonym: "COXPD22" RELATED [MONDO:Lexical, OMIM:616045]
xref: OMIM:616045 {source="MONDO:equivalentTo", source="ORDO:254913/w", source="Orphanet:254913"}
is_a: MONDO:0014471 {source="MONDO:prototype"} ! mitochondrial proton-transporting ATP synthase complex deficiency
property_value: exactMatch http://identifiers.org/omim/616045

[Term]
id: MONDO:0020728
name: hypouricemia, renal 1
synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150]
synonym: "hypouricemia, renal, 1" RELATED [MONDO:Lexical, OMIM:220150]
synonym: "hypouricemia, renal, 1; RHUC1" RELATED [OMIM:220150]
synonym: "hypouricemia, renal, type 1" RELATED [MONDORULE:1, OMIM:220150]
synonym: "renal hypouricemia" RELATED [OMIM:220150]
synonym: "RHUC1" RELATED [MONDO:Lexical, OMIM:220150]
xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:equivalentTo", source="ORDO:94088/e"}
xref: UMLS:C0473219 {source="OMIM:220150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009071 {source="MONDO:prototype"} ! hereditary renal hypouricemia
property_value: exactMatch http://identifiers.org/omim/220150
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473219

[Term]
id: MONDO:0020729
name: autosomal recessive agammaglobulinemia 1
synonym: "agammaglobulinemia 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:601495]
synonym: "agammaglobulinemia 1, autosomal recessive; AGM1" RELATED [OMIM:601495]
synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495]
synonym: "AGM1" EXACT [MONDO:Lexical, OMIM:601495]
xref: OMIM:601495 {source="MONDO:equivalentTo", source="ORDO:33110/e", source="Orphanet:33110"}
is_a: MONDO:0011096 {source="MONDO:prototype"} ! autosomal agammaglobulinemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3152144
property_value: exactMatch http://identifiers.org/omim/601495

[Term]
id: MONDO:0020730
name: carpal tunnel syndrome 1
synonym: "amyotrophy, thenar, of carpal origin" RELATED [OMIM:115430]
synonym: "carpal tunnel syndrome" RELATED [DOID:12169, ICD9CM_2006:354.0, MONDO:Lexical, OMIM:115430]
synonym: "carpal tunnel syndrome; CTS1" RELATED [OMIM:115430]
synonym: "CTS" RELATED [OMIM:115430]
synonym: "CTS1" RELATED [MONDO:Lexical, OMIM:115430]
xref: OMIM:115430 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"}
is_a: MONDO:0007275 {source="MONDO:prototype"} ! carpal tunnel syndrome
property_value: exactMatch http://identifiers.org/omim/115430

[Term]
id: MONDO:0020731
name: arbovirus infection
def: "A viral infection that is transmitted by an arthropod." [NCIT:C34396]
synonym: "Arboviral disease" RELATED [UMLS:C0003723]
synonym: "ARBOVIRUS INFECT" RELATED [MSH:D001102]
synonym: "Arbovirus Infection" RELATED [MESH:D001102, MSH:D001102, NCIT:C34396]
synonym: "Arbovirus infection" RELATED [UMLS:C0003723]
synonym: "arbovirus infection" EXACT [NCIT:C34396]
synonym: "Arbovirus Infections" RELATED [MSH:D001102]
synonym: "Arthropod-Borne Viral Infection" RELATED [NCIT:C34396]
synonym: "Arthropod-borne viral infection" RELATED [UMLS:C0003723]
synonym: "arthropod-borne viral infection" EXACT [NCIT:C34396]
synonym: "Infection, Arbovirus" RELATED [MESH:D001102, MSH:D001102]
synonym: "Infections, Arbovirus" RELATED [MESH:D001102, MSH:D001102]
xref: EFO:1001269 {source="MONDO:equivalentTo"}
xref: MESH:D001102 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: NCIT:C34396 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: SCTID:40610006 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: UMLS:C0003723 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="MESH:D001102", source="NCIT:C34396"} ! viral infectious disease
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch http://identifiers.org/mesh/D001102
property_value: exactMatch http://identifiers.org/snomedct/40610006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003723
property_value: exactMatch NCIT:C34396

[Term]
id: MONDO:0020732
name: progeria
xref: OMIMPS:176670 {source="MONDO:equivalentTo"}
is_a: MONDO:0015333 ! progeroid syndrome

[Term]
id: MONDO:0020733
name: proximal symphalangism 1A
synonym: "Cushing symphalangism" RELATED [OMIM:185800]
synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800]
synonym: "Sym1" RELATED [OMIM:185800]
synonym: "SYM1A" RELATED [MONDO:Lexical, OMIM:185800]
synonym: "symphalangism, proximal, 1A" RELATED [MONDO:Lexical, OMIM:185800]
synonym: "symphalangism, proximal, 1A; SYM1A" RELATED [OMIM:185800]
synonym: "symphalangism, proximal, type 1A" RELATED [MONDORULE:4, OMIM:185800]
xref: OMIM:185800 {source="DOID:0050788", source="MONDO:equivalentTo", source="ORDO:3250/e", source="Orphanet:3250"}
xref: UMLS:C3714899 {source="OMIM:185800", source="MONDO:equivalentTo"}
is_a: MONDO:0008511 {source="MONDO:prototype"} ! proximal symphalangism (disease)
property_value: exactMatch http://identifiers.org/omim/185800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714899

[Term]
id: MONDO:0020734
name: erythrocyte AMP deaminase deficiency
synonym: "erythrocyte AMP deaminase deficiency" RELATED [OMIM:612874]
xref: OMIM:612874 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:equivalentTo"}
xref: UMLS:C2752073 {source="OMIM:612874", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013028 {source="MONDO:prototype"} ! adenosine monophosphate deaminase deficiency
property_value: exactMatch http://identifiers.org/omim/612874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2752073

[Term]
id: MONDO:0020735
name: ACTH-independent macronodular adrenal hyperplasia 1
synonym: "ACTH-independent macronodular adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:219080]
synonym: "ACTH-independent macronodular adrenal hyperplasia; AIMAH1" RELATED [OMIM:219080]
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427-definition]
synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "AIMAH1" RELATED [MESH:C565662, MONDO:Lexical, OMIM:219080]
synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "Cushing syndrome, adrenal, due to AIMAH" RELATED [MESH:C565662, OMIM:219080]
xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="ORDO:189427/e", source="GARD:0010824"}
xref: UMLS:C1857451 {source="MONDO:subClassOf", source="OMIM:219080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009049 {source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia
property_value: exactMatch http://identifiers.org/omim/219080
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1857451

[Term]
id: MONDO:0020736
name: uncombable hair syndrome 1
synonym: "pili trianguli Et canaliculi" RELATED [OMIM:191480]
synonym: "UHS1" RELATED [OMIM:191480]
synonym: "uncombable hair syndrome" RELATED [OMIM:191480]
synonym: "uncombable hair syndrome 1" RELATED [OMIM:191480]
synonym: "uncombable hair syndrome 1; UHS1" RELATED [OMIM:191480]
xref: OMIM:191480 {source="ORDO:1410/e", source="Orphanet:1410", source="MONDO:equivalentTo"}
is_a: MONDO:0008621 {source="MONDO:prototype"} ! uncombable hair syndrome
property_value: exactMatch http://identifiers.org/omim/191480

[Term]
id: MONDO:0020737
name: optic atrophy 10 with or without ataxia, mental retardation, and seizures
synonym: "OPA10" RELATED [OMIM:616732]
synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" RELATED [OMIM:616732]
synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures; OPA10" RELATED [OMIM:616732]
xref: OMIM:616732 {source="Orphanet:98676", source="MONDO:equivalentTo"}
is_a: MONDO:0014753 {source="MONDO:prototype"} ! autosomal recessive optic atrophy
property_value: exactMatch http://identifiers.org/omim/616732

[Term]
id: MONDO:0020738
name: multiple benign circumferential skin creases on limbs 1
synonym: "CSCSC1" RELATED [OMIM:156610]
synonym: "skin creases, congenital symmetric circumferential, 1" RELATED [OMIM:156610]
synonym: "skin creases, congenital symmetric circumferential, 1; CSCSC1" RELATED [OMIM:156610]
xref: OMIM:156610 {source="MONDO:equivalentTo", source="ORDO:2505/e", source="Orphanet:2505"}
is_a: MONDO:0007990 {source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs
property_value: exactMatch http://identifiers.org/omim/156610

[Term]
id: MONDO:0020739
name: autosomal recessive infantile hypercalcemia 1
synonym: "HCINF1" RELATED [OMIM:143880]
synonym: "hypercalcemia, infantile, 1" RELATED [OMIM:143880]
synonym: "hypercalcemia, infantile, 1; HCINF1" RELATED [OMIM:143880]
xref: OMIM:143880 {source="MONDO:equivalentTo", source="Orphanet:300547", source="ORDO:300547/e"}
xref: UMLS:C0268080 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143880"}
is_a: MONDO:0007749 {source="MONDO:prototype"} ! autosomal recessive infantile hypercalcemia
property_value: exactMatch http://identifiers.org/omim/143880
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268080

[Term]
id: MONDO:0020740
name: ectodermal dysplasia and immunodeficiency 1
synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [OMIM:300291]
synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [OMIM:300291]
synonym: "EDA-Id" BROAD [OMIM:300291]
synonym: "EDAID1" EXACT [OMIM:300291]
synonym: "HED-Id" BROAD [OMIM:300291]
xref: OMIM:300291 {source="ORDO:98813/e", source="MONDO:equivalentTo", source="Orphanet:98813"}
is_a: MONDO:0010293 {source="MONDO:prototype"} ! hypohidrotic ectodermal dysplasia with immunodeficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1846008
property_value: exactMatch http://identifiers.org/omim/300291

[Term]
id: MONDO:0020741
name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100]
synonym: "EPD" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent; Epd" RELATED [OMIM:266100]
synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100]
synonym: "pyridoxine-dependent epilepsy" RELATED [OMIM:266100]
xref: OMIM:266100 {source="Orphanet:3006", source="ORDO:3006/e", source="MONDO:equivalentTo"}
is_a: MONDO:0009945 {source="MONDO:prototype"} ! pyridoxine-dependent epilepsy
property_value: exactMatch http://identifiers.org/omim/266100

[Term]
id: MONDO:0020742
name: obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
comment: See https://github.com/monarch-initiative/mondo/issues/763
synonym: "CAMAK syndrome" RELATED [OMIM:212540]
synonym: "CAMFAK syndrome" RELATED [OMIM:212540]
synonym: "cataract, microcephaly, arthrogryposis, kyphosis syndrome" RELATED [OMIM:212540]
synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" RELATED [OMIM:212540]
synonym: "cataract-microcephaly-failure to thrive-kyphoscoliosis" RELATED [MESH:C537965]
xref: GARD:0001060 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C537965 {source="MONDO:equivalentTo"}
xref: OMIM:212540 {source="MONDO:obsoleteEquivalent", source="GARD:0001060"}
xref: Orphanet:1317 {source="MONDO:obsoleteEquivalent", source="OMIM:212540"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1876169
property_value: exactMatch http://identifiers.org/mesh/C537965
property_value: exactMatch http://identifiers.org/omim/212540
property_value: exactMatch Orphanet:1317
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1060/cataract-microcephaly-failure-to-thrive-kyphoscoliosis xsd:anyURI {source="GARD:0001060"}
is_obsolete: true
replaced_by: MONDO:0008926

[Term]
id: MONDO:0020743
name: mixed phenotype acute leukemia
def: "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." [NCIT:C82179]
subset: ordo_disease
synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179]
synonym: "MPAL" EXACT [NCIT:C82179]
xref: ICD10:C95.0 {source="Orphanet:530995"}
xref: MedDRA:10067399 {source="Orphanet:530995"}
xref: NCIT:C82179 {source="MONDO:equivalentTo"}
xref: Orphanet:530995 {source="MONDO:equivalentTo"}
is_a: MONDO:0019460 {source="NCIT:C82179", source="Orphanet:530995"} ! acute leukemia of ambiguous lineage
property_value: exactMatch NCIT:C82179
property_value: exactMatch Orphanet:530995

[Term]
id: MONDO:0020744
name: Mobitz type I atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)" [NCIT:C62017]
synonym: "AV block second degree Mobitz type I" EXACT [NCIT:C62017]
synonym: "AV block second degree Möbitz type I" EXACT [NCIT:C62017]
synonym: "Mobitz I" EXACT [NCIT:C62017]
synonym: "Mobitz type I" EXACT [NCIT:C62017]
synonym: "Mobitz type I second degree AV block" EXACT [NCIT:C62017]
synonym: "Möbitz I" EXACT [NCIT:C62017]
synonym: "Möbitz type I second degree AV block" EXACT [NCIT:C62017]
synonym: "second degree atrioventricular block Mobitz type I" EXACT [NCIT:C62017]
synonym: "second degree atrioventricular block Möbitz type I" EXACT [NCIT:C62017]
synonym: "type 1 2nd degree AV block" EXACT [NCIT:C62017]
synonym: "type 1 second degree atrioventricular block" EXACT [NCIT:C62017]
synonym: "type 1 second degree AV block" EXACT [NCIT:C62017]
synonym: "Wenckebach block" EXACT [NCIT:C62017]
xref: NCIT:C62017 {source="MONDO:equivalentTo"}
is_a: MONDO:0000467 {source="NCIT:C62017"} ! second-degree atrioventricular block
property_value: exactMatch NCIT:C62017

[Term]
id: MONDO:0020745
name: autosomal dominant cardiac arrhythmia (Kuhn)
subset: n_of_one
synonym: "cardiac arrhythmia" RELATED [OMIM:115000]
synonym: "extrasystoles" RELATED [OMIM:115000]
xref: OMIM:115000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015110 ! genetic cardiac rhythm disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003811
property_value: exactMatch http://identifiers.org/omim/115000

[Term]
id: MONDO:0020746
name: contractures, pterygia, and variable skeletal fusions syndrome 1B
xref: OMIM:618469 {source="MONDO:equivalentTo"}
is_a: MONDO:0009926 ! autosomal recessive multiple pterygium syndrome
is_a: MONDO:0020937 {source="MONDO:cjm"} ! contractures, pterygia, and variable skeletal fusions syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193114
property_value: exactMatch http://identifiers.org/omim/618469

[Term]
id: MONDO:0020747
name: sitosterolemia 1
synonym: "STSL1" EXACT [OMIM:210250]
xref: OMIM:210250 {source="MONDO:equivalentTo"}
is_a: MONDO:0008863 ! sitosterolemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749759
property_value: exactMatch http://identifiers.org/omim/210250

[Term]
id: MONDO:0020748
name: sitosterolemia 2
synonym: "STSL2" EXACT [OMIM:618666]
xref: OMIM:618666 {source="MONDO:equivalentTo"}
is_a: MONDO:0008863 ! sitosterolemia
property_value: exactMatch http://identifiers.org/omim/618666

[Term]
id: MONDO:0020749
name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
xref: OMIM:221770 {source="MONDO:equivalentTo"}
is_a: MONDO:0009092 ! Nasu-Hakola disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4721893
property_value: exactMatch http://identifiers.org/omim/221770

[Term]
id: MONDO:0020750
name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
xref: OMIM:618193 {source="MONDO:equivalentTo"}
is_a: MONDO:0009092 ! Nasu-Hakola disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748657
property_value: exactMatch http://identifiers.org/omim/618193

[Term]
id: MONDO:0020751
name: orthostatic hypotension 2
xref: OMIM:618182 {source="MONDO:equivalentTo"}
is_a: MONDO:0021272 ! inherited orthostatic hypotension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748569
property_value: exactMatch http://identifiers.org/omim/618182

[Term]
id: MONDO:0020752
name: EJM1
comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/1348
subset: predisposition
xref: OMIM:254770 {source="MONDO:equivalentTo"}
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850778
property_value: exactMatch http://identifiers.org/omim/254770

[Term]
id: MONDO:0020753
name: Orthocoronavirinae infectious disease
def: "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." [https://en.wikipedia.org/wiki/Coronavirus, https://github.com/monarch-initiative/mondo/issues/1355, MONDO:cjm]
synonym: "coronavirus infectious disease" EXACT [https://en.wikipedia.org/wiki/Coronavirus]
xref: DOID:0080599 {source="MONDO:equivalentTo"}
is_a: MONDO:0005718 {source="NCBITaxon:2501931"} ! Coronaviridae infectious disease
property_value: exactMatch DOID:0080599

[Term]
id: MONDO:0020754
name: visceral myopathy
synonym: "infantile visceral myopathy" RELATED [OMIM:155310]
synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310]
synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310]
synonym: "visceral myopathy; VSCM" RELATED [OMIM:155310]
xref: OMIM:155310 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:155310"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042781
property_value: exactMatch http://identifiers.org/omim/155310

[Term]
id: MONDO:0020755
name: heart block
xref: SCTID:233916004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000992 ! heart conduction disease
property_value: exactMatch http://identifiers.org/snomedct/233916004

[Term]
id: MONDO:0020756
name: migraine, familial hemiplegic, 1
subset: gard_rare
synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638]
synonym: "FHM1" EXACT [GARD:0002638, MONDO:Lexical, OMIM:141500]
synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638]
synonym: "MHP1" EXACT [GARD:0002638, OMIM:141500]
synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500]
synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500]
synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500]
synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500]
synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500]
xref: GARD:0002638 {source="MONDO:equivalentTo"}
xref: OMIM:141500 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:141500"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832884
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832894
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832903
property_value: exactMatch http://identifiers.org/omim/141500

[Term]
id: MONDO:0020757
name: sporadic hemiplegic migraine
def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011]
synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011]
xref: NCIT:C117011 {source="MONDO:equivalentTo"}
is_a: MONDO:0018925 {source="MONDO:cjm"} ! familial or sporadic hemiplegic migraine
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832903
property_value: exactMatch NCIT:C117011

[Term]
id: MONDO:0020759
name: epilepsy, childhood absence, susceptibility to, 1
synonym: "ECA1" EXACT [OMIM:600131]
synonym: "epilepsy, childhood absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:600131]
synonym: "epilepsy, childhood absence, susceptibility to, 1; ECA1" RELATED [OMIM:600131]
xref: OMIM:600131 {source="MONDO:equivalentTo"}
is_a: MONDO:0010826 {source="OMIM:600131"} ! childhood absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838604
property_value: exactMatch http://identifiers.org/omim/600131

[Term]
id: MONDO:0020760
name: skin squamous cell carcinoma in situ
def: "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion." [NCIT:C2906]
synonym: "intraepidermal squamous cell carcinoma" EXACT [NCIT:C2906]
synonym: "skin squamous cell cancer in situ" EXACT [NCIT:C2906]
synonym: "skin squamous cell carcinoma in situ" EXACT [NCIT:C2906]
synonym: "squamous cell carcinoma in situ of skin" EXACT [NCIT:C2906]
synonym: "squamous cell carcinoma in situ of the skin" EXACT [NCIT:C2906]
xref: NCIT:C2906 {source="MONDO:equivalentTo"}
is_a: MONDO:0002529 {source="NCIT:C2906"} ! skin squamous cell carcinoma
is_a: MONDO:0004641 {source="NCIT:C2906"} ! skin carcinoma in situ
is_a: MONDO:0004693 ! squamous carcinoma in situ
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2314897
property_value: exactMatch NCIT:C2906

[Term]
id: MONDO:0020761
name: Bowen disease of the skin
def: "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." [NCIT:C62571]
subset: gard_rare
synonym: "Bowen Disease" RELATED [MESH:D001913]
synonym: "Bowen disease" EXACT [NCIT:C62571]
synonym: "Bowen disease of the skin" EXACT [NCIT:C62571]
synonym: "Bowen's disease of the skin" EXACT [NCIT:C62571]
synonym: "Bowens Disease" RELATED [MESH:D001913]
synonym: "Disease, Bowen" RELATED [MESH:D001913]
synonym: "Disease, Bowen's" RELATED [MESH:D001913]
synonym: "intraepidermal squamous cell carcinoma, Bowen type" EXACT [NCIT:C62571]
xref: GARD:0005948 {source="MONDO:equivalentTo"}
xref: ICDO:8081/2 {source="NCIT:C62571"}
xref: MESH:D001913 {source="UMLS:C0006079", source="MONDO:equivalentTo"}
xref: NCIT:C62571 {source="UMLS:C0006079", source="MONDO:equivalentTo"}
xref: UMLS:C0006079 {source="MONDO:equivalentTo", source="GARD:0005948", source="NCIT:C62571"}
is_a: MONDO:0020760 {source="NCIT:C62571"} ! skin squamous cell carcinoma in situ
relationship: has_modifier MONDO:0021136 {source="GARD:0005948"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/254656002
property_value: closeMatch http://identifiers.org/snomedct/84999002
property_value: exactMatch http://identifiers.org/mesh/D001913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006079
property_value: exactMatch NCIT:C62571

[Term]
id: MONDO:0020762
name: diencephalic-mesencephalic junction dysplasia syndrome 2
synonym: "DMJDS2" EXACT [OMIM:618646]
synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646]
xref: OMIM:618646 {source="MONDO:equivalentTo"}
is_a: MONDO:0033211 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia syndrome
property_value: exactMatch http://identifiers.org/omim/618646

[Term]
id: MONDO:0020763
name: Menke-Hennekam syndrome 1
synonym: "Menke-Hennekam syndrome 1; MKHK1" RELATED [OMIM:618332]
xref: OMIM:618332 {source="MONDO:equivalentTo"}
is_a: MONDO:0020774 {source="OMIM:618332"} ! Menke-Hennekam syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193034
property_value: exactMatch http://identifiers.org/omim/618332

[Term]
id: MONDO:0020764
name: carcinoma, Brown-Pearce
synonym: "Brown-Pearce Carcinoma" RELATED [MESH:D002284, MSH:D002284]
synonym: "Brown-Pearce Epithelioma" RELATED [MESH:D002284, MSH:D002284]
synonym: "Carcinoma, Brown Pearce" RELATED [MESH:D002284, MSH:D002284]
synonym: "Carcinoma, Brown-Pearce" RELATED [MSH:D002284]
synonym: "Epithelioma, Brown Pearce" RELATED [MESH:D002284, MSH:D002284]
synonym: "Epithelioma, Brown-Pearce" RELATED [MESH:D002284, MSH:D002284]
xref: EFO:1001278 {source="MONDO:equivalentTo"}
xref: MESH:D002284 {source="UMLS:C0007122", source="MONDO:equivalentTo"}
xref: UMLS:C0007122 {source="MONDO:equivalentTo"}
is_a: MONDO:0004993 ! carcinoma
property_value: exactMatch http://identifiers.org/mesh/D002284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007122

[Term]
id: MONDO:0020765
name: neuropathy, congenital hypomyelinating, 2
synonym: "CHN2" RELATED [OMIM:618184]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2" RELATED [OMIM:618184]
xref: OMIM:618184 {source="MONDO:equivalentTo"}
is_a: MONDO:0033352 {source="OMIM:618184"} ! neuropathy, congenital hypomelinating
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4722277
property_value: exactMatch http://identifiers.org/omim/618184

[Term]
id: MONDO:0020766
name: neuropathy, congenital hypomyelinating, 3
synonym: "CHN3" RELATED [OMIM:618186]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3" RELATED [OMIM:618186]
xref: OMIM:618186 {source="MONDO:equivalentTo"}
is_a: MONDO:0033352 {source="OMIM:618186"} ! neuropathy, congenital hypomelinating
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748608
property_value: exactMatch http://identifiers.org/omim/618186

[Term]
id: MONDO:0020767
name: cauda equina syndrome with neurogenic bladder
def: "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." [NCIT:C34453]
synonym: "Cauda Equina Syndrome with Neurogenic Bladder" RELATED [NCIT:C34453]
synonym: "Cauda equina syndrome with neurogenic bladder" RELATED [UMLS:C0007459]
synonym: "cauda equina syndrome with neurogenic bladder" EXACT [NCIT:C34453]
xref: ICD9:344.61 {source="linkedlife"}
xref: NCIT:C34453 {source="MONDO:equivalentTo", source="UMLS:C0007459"}
xref: SCTID:12454008 {source="MONDO:equivalentTo", source="UMLS:C0007459"}
xref: UMLS:C0007459 {source="MONDO:equivalentTo"}
is_a: MONDO:0005693 {source="NCIT:C34453", source="UMLS:C0007459"} ! cauda equina syndrome
property_value: exactMatch http://identifiers.org/snomedct/12454008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007459
property_value: exactMatch NCIT:C34453

[Term]
id: MONDO:0020768
name: X-linked deafness
comment: Note that this encompasses both syndromic and non-syndromic types.
synonym: "deafness, X-linked" EXACT [OMIMPS:304500]
synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715]
synonym: "DFNX" EXACT [MONDO:cjm]
xref: GARD:0001715 {source="MONDO:equivalentTo"}
xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0005365 ! hearing loss disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0037940 ! inherited auditory system disease

[Term]
id: MONDO:0020769
name: Menke-Hennekam syndrome 2
synonym: "Menke-Hennekam syndrome 2; MKHK2" RELATED [OMIM:618333]
xref: OMIM:618333 {source="MONDO:equivalentTo"}
is_a: MONDO:0020774 {source="OMIM:618333"} ! Menke-Hennekam syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193035
property_value: exactMatch http://identifiers.org/omim/618333

[Term]
id: MONDO:0020770
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
synonym: "SCAN3" RELATED [OMIM:618387]
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3" RELATED [OMIM:618387]
xref: OMIM:618387 {source="MONDO:equivalentTo"}
is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193070
property_value: exactMatch http://identifiers.org/omim/618387

[Term]
id: MONDO:0020771
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
synonym: "SCAN" EXACT [MONDO:cjm]
xref: OMIMPS:607250 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0020772
name: epilepsy, juvenile absence, susceptibility to, 1
synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1" RELATED [OMIM:607631]
synonym: "JAE1" RELATED [OMIM:607631]
xref: OMIM:607631 {source="MONDO:equivalentTo"}
is_a: MONDO:0011876 {source="OMIM:607631"} ! juvenile absence epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750892
property_value: exactMatch http://identifiers.org/omim/607631

[Term]
id: MONDO:0020773
name: cerebrospinal fluid rhinorrhea
def: "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea" RELATED [MSH:D002559, NCIT:C84627]
synonym: "Cerebrospinal fluid rhinorrhea" RELATED [UMLS:C0007815]
synonym: "cerebrospinal fluid rhinorrhea" EXACT []
synonym: "Cerebrospinal Fluid Rhinorrhea, post Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, post-Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, Spontaneous" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrheas" RELATED [MESH:D002559, MSH:D002559]
synonym: "Cerebrospinal fluid rhinorrhoea" RELATED [GTR:AN1353832, HP:0030998]
synonym: "Cerebrospinal Rhinorrhea" RELATED [MESH:D002559, MSH:D002559]
synonym: "Cerebrospinal rhinorrhea" RELATED [UMLS:C0007815]
synonym: "cerebrospinal rhinorrhea" RELATED []
synonym: "Cerebrospinal Rhinorrheas" RELATED [MESH:D002559, MSH:D002559]
synonym: "CSF - Cerebrospinal rhinorrhea" RELATED [UMLS:C0007815]
synonym: "csf - cerebrospinal rhinorrhea" RELATED []
synonym: "CSF Rhinorrhea" RELATED [MESH:D002559, MSH:D002559]
synonym: "CSF Rhinorrheas" RELATED [MESH:D002559, MSH:D002559]
synonym: "CSF rhinorrhoea" RELATED [GTR:AN1355639, HP:0030998]
synonym: "post Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "post Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "post-Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "post-Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal" RELATED [MESH:D002559, MSH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559, MSH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, post-Traumatic" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, Spontaneous" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, Traumatic" RELATED [MESH:D002559]
synonym: "Rhinorrhea, CSF" RELATED [MESH:D002559, MSH:D002559]
synonym: "Rhinorrhea, post-Traumatic, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Spontaneous Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Traumatic Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrheas, Cerebrospinal" RELATED [MESH:D002559, MSH:D002559]
synonym: "Rhinorrheas, Cerebrospinal Fluid" RELATED [MESH:D002559, MSH:D002559]
synonym: "Rhinorrheas, CSF" RELATED [MESH:D002559, MSH:D002559]
synonym: "Spontaneous Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "Spontaneous Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
xref: GTR:AN1353832 {source="UMLS:C0007815"}
xref: GTR:AN1355639 {source="UMLS:C0007815"}
xref: HP:0030998 {source="UMLS:C0007815"}
xref: ICD9:349.81 {source="linkedlife"}
xref: MESH:D002559 {source="MONDO:equivalentTo", source="UMLS:C0007815"}
xref: SCTID:85638002 {source="MONDO:equivalentTo", source="UMLS:C0007815"}
xref: UMLS:C0007815 {source="MONDO:equivalentTo"}
is_a: MONDO:0043327 {source="MESH:D002559"} ! cerebrospinal fluid leak
property_value: closeMatch NCIT:C84627
property_value: exactMatch http://identifiers.org/mesh/D002559
property_value: exactMatch http://identifiers.org/snomedct/85638002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007815

[Term]
id: MONDO:0020774
name: Menke-Hennekam syndrome
xref: OMIMPS:618332 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease

[Term]
id: MONDO:0020775
name: congenital disorder of glycosylation with defective fucosylation 1
synonym: "Cdgf" RELATED [OMIM:618005]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1" RELATED [OMIM:618005]
xref: OMIM:618005 {source="MONDO:equivalentTo"}
is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4693905
property_value: exactMatch http://identifiers.org/omim/618005

[Term]
id: MONDO:0020776
name: chlamydiaceae infections
def: "Infections with bacteria of the family CHLAMYDIACEAE." [MESH:D002694]
synonym: "Chlamydiaceae Infection" RELATED [MESH:D002694, MSH:D002694]
synonym: "Chlamydiaceae Infections" RELATED [MSH:D002694]
synonym: "Infection, Chlamydiaceae" RELATED [MESH:D002694, MSH:D002694]
synonym: "Infections, Chlamydiaceae" RELATED [MESH:D002694, MSH:D002694]
xref: EFO:1001288 {source="MONDO:equivalentTo"}
xref: MESH:D002694 {source="MONDO:equivalentTo", source="UMLS:C0008153"}
xref: UMLS:C0008153 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D002694"} ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/mesh/D002694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008153

[Term]
id: MONDO:0020777
name: congenital disorder of glycosylation with defective fucosylation 2
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2" RELATED [OMIM:618324]
xref: OMIM:618324 {source="MONDO:equivalentTo"}
is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193028
property_value: exactMatch http://identifiers.org/omim/618324

[Term]
id: MONDO:0020778
name: cone-rod dystrophy and hearing loss 1
synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1" RELATED [OMIM:617236]
synonym: "Crdhl" RELATED [OMIM:617236]
xref: OMIM:617236 {source="MONDO:equivalentTo"}
is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193018
property_value: exactMatch http://identifiers.org/omim/617236

[Term]
id: MONDO:0020779
name: cartilage development disorder
def: "Any dysfunction in the growth of cartilage." [NCIT:C34466]
synonym: "Abnormal development of cartilage" RELATED [UMLS:C0008449]
synonym: "abnormal development of cartilage" RELATED []
synonym: "Cartilage Development Disorder" RELATED [NCIT:C34466]
synonym: "cartilage development disorder" EXACT [NCIT:C34466]
synonym: "Chondrodystrophy" RELATED [NCIT:C34466, SNOMEDCT_US:67988000]
synonym: "chondrodystrophy" EXACT [NCIT:C34466]
synonym: "chondrodystrophy" RELATED []
synonym: "Congenital anomaly of cartilage" RELATED [UMLS:C0008449]
synonym: "congenital anomaly of cartilage" EXACT []
xref: ICD9:756.4 {source="linkedlife"}
xref: ICD9:756.9 {source="linkedlife"}
xref: NCIT:C34466 {source="MONDO:equivalentTo", source="UMLS:C0008449"}
xref: SCTID:67988000 {source="MONDO:equivalentTo", source="UMLS:C0008449"}
xref: UMLS:C0008449 {source="MONDO:equivalentTo"}
is_a: MONDO:0005569 ! cartilage disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/snomedct/67988000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008449
property_value: exactMatch NCIT:C34466

[Term]
id: MONDO:0020780
name: cone-rod dystrophy and hearing loss 2
synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2" RELATED [OMIM:618358]
xref: OMIM:618358 {source="MONDO:equivalentTo"}
is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193051
property_value: exactMatch http://identifiers.org/omim/618358

[Term]
id: MONDO:0020781
name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1" RELATED [OMIM:617186]
synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407]
xref: EFO:0009158 {source="MONDO:equivalentTo"}
xref: OMIM:617186 {source="MONDO:equivalentTo"}
xref: Orphanet:555407 {source="MONDO:equivalentTo", source="OMIM:617186"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/omim/617186
property_value: exactMatch Orphanet:555407

[Term]
id: MONDO:0020782
name: chronic gingivitis
def: "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." [NCIT:C34474]
synonym: "Chronic Gingivitis" RELATED [NCIT:C34474]
synonym: "Chronic gingivitis" RELATED [UMLS:C0008684]
synonym: "chronic gingivitis" EXACT [NCIT:C34474]
xref: ICD9:523.1 {source="linkedlife"}
xref: ICD9:523.10 {source="linkedlife"}
xref: NCIT:C34474 {source="UMLS:C0008684", source="MONDO:equivalentTo"}
xref: SCTID:72621003 {source="UMLS:C0008684", source="MONDO:equivalentTo"}
xref: UMLS:C0008684 {source="MONDO:equivalentTo"}
is_a: MONDO:0002508 {source="NCIT:C34474", source="UMLS:C0008684"} ! gingivitis
property_value: exactMatch http://identifiers.org/snomedct/72621003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0008684
property_value: exactMatch NCIT:C34474

[Term]
id: MONDO:0020783
name: capillary malformation-arteriovenous malformation 1
synonym: "Capillary Malformation-Arteriovenous Malformation" RELATED [OMIM:608354]
synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1" RELATED [OMIM:608354]
xref: OMIM:608354 {source="MONDO:equivalentTo"}
is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842180
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4747394
property_value: exactMatch http://identifiers.org/omim/608354

[Term]
id: MONDO:0020784
name: obsolete short sleep, familial natural, 1
synonym: "Short Sleep Phenotype" RELATED [OMIM:612975]
synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1" RELATED [OMIM:612975]
xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751509
property_value: exactMatch http://identifiers.org/omim/612975
is_obsolete: true

[Term]
id: MONDO:0020785
name: capillary malformation-arteriovenous malformation 2
synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2" RELATED [OMIM:618196]
xref: OMIM:618196 {source="MONDO:equivalentTo"}
is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748670
property_value: exactMatch http://identifiers.org/omim/618196

[Term]
id: MONDO:0020786
name: obsolete short sleep, familial natural, 2
synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2" RELATED [OMIM:618591]
xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/omim/618591
is_obsolete: true

[Term]
id: MONDO:0020787
name: hypomagnesemia, seizures, and intellectual disability 1
synonym: "HOMGSMR1" RELATED [OMIM:616418]
synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1" RELATED [OMIM:616418]
xref: OMIM:616418 {source="MONDO:equivalentTo"}
is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and intellectual disability
property_value: exactMatch http://identifiers.org/omim/616418

[Term]
id: MONDO:0020788
name: hypomagnesemia, seizures, and intellectual disability 2
synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2" RELATED [OMIM:618314]
xref: OMIM:618314 {source="MONDO:equivalentTo"}
is_a: MONDO:0014631 {source="OMIM:618314"} ! hypomagnesemia, seizures, and intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193023
property_value: exactMatch http://identifiers.org/omim/618314

[Term]
id: MONDO:0020789
name: pseudo-TORCH syndrome 1
synonym: "pseudo-TORCH syndrome" BROAD [OMIM:251290]
synonym: "pseudo-TORCH syndrome 1; PTORCH1" EXACT [OMIM:251290]
synonym: "PTORCH1" EXACT [OMIM:251290]
xref: OMIM:251290 {source="MONDO:equivalentTo"}
is_a: MONDO:0009626 {source="OMIM:251290"} ! pseudo-TORCH syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4552078
property_value: exactMatch http://identifiers.org/omim/251290

[Term]
id: MONDO:0020790
name: gaze palsy, familial horizontal, with progressive scoliosis 1
synonym: "gaze palsy, familial horizontal, with progressive scoliosis 1" EXACT [OMIM:607313]
synonym: "gaze palsy, familial horizontal, with progressive scoliosis 1; HGPPS1" EXACT [OMIM:607313]
synonym: "HGPPS" EXACT [OMIM:607313]
synonym: "Ophthalmoplegia, Progressive External, and Scoliosis" RELATED [OMIM:607313]
xref: OMIM:607313 {source="MONDO:equivalentTo"}
is_a: MONDO:0011810 {source="OMIM:607313"} ! horizontal gaze palsy with progressive scoliosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4551964
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4760875
property_value: exactMatch http://identifiers.org/omim/607313

[Term]
id: MONDO:0020791
name: corneal dystrophy, Meesmann, 1
synonym: "Corneal Dystrophy, Juvenile Epithelial, of Meesmann" RELATED [OMIM:122100]
synonym: "Corneal Dystrophy, Meesmann Epithelial" RELATED [OMIM:122100]
synonym: "CORNEAL DYSTROPHY, MEESMANN, 1; MECD1" RELATED [OMIM:122100]
synonym: "Meesmann Corneal Dystrophy" RELATED [OMIM:122100]
xref: OMIM:122100 {source="MONDO:equivalentTo"}
is_a: MONDO:0007379 {source="OMIM:122100"} ! Meesmann corneal dystrophy
property_value: exactMatch http://identifiers.org/omim/122100

[Term]
id: MONDO:0020792
name: dwarfism with tall vertebrae
subset: n_of_one
xref: OMIM:126950 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch Orphanet:2661
property_value: exactMatch http://identifiers.org/omim/126950

[Term]
id: MONDO:0020793
name: oculopharyngodistal myopathy 1
synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [OMIM:164310]
synonym: "oculopharyngodistal myopathy" EXACT [OMIM:164310]
synonym: "oculopharyngodistal myopathy 1; OPDM1" EXACT [OMIM:164310]
synonym: "OPDM1" EXACT [OMIM:164310]
xref: OMIM:164310 {source="MONDO:equivalentTo"}
is_a: MONDO:0025193 {source="OMIM:164310"} ! oculopharyngodistal myopathy
property_value: exactMatch http://identifiers.org/omim/164310

[Term]
id: MONDO:0020795
name: Silver-Russell syndrome 5
synonym: "SILVER-RUSSELL SYNDROME 5; SRS5" EXACT [OMIM:618908]
synonym: "SRS5" EXACT [OMIM:618908]
xref: OMIM:618908 {source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome
property_value: exactMatch http://identifiers.org/omim/618908

[Term]
id: MONDO:0020796
name: Silver-Russell syndrome 1
synonym: "SRS1" EXACT []
xref: OMIM:180860 {source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome
property_value: exactMatch http://identifiers.org/omim/180860

[Term]
id: MONDO:0020797
name: decompression sickness
def: "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." [MESH:D003665]
synonym: "Bends" RELATED [MESH:D003665, MSH:D003665, SNOMEDCT_US:89684003]
synonym: "bends" EXACT []
synonym: "CAISSON DIS" RELATED [MSH:D003665]
synonym: "Caisson Disease" RELATED [MESH:D003665, MSH:D003665]
synonym: "Caisson disease" RELATED [UMLS:C0011119]
synonym: "caisson disease" RELATED []
synonym: "Caisson Diseases" RELATED [MESH:D003665, MSH:D003665]
synonym: "Compressed air disease" RELATED [UMLS:C0011119]
synonym: "Compressed-air disease" RELATED [UMLS:C0011119]
synonym: "compressed-air disease" RELATED []
synonym: "Decompression Sickness" RELATED [MSH:D003665]
synonym: "Decompression sickness" RELATED [UMLS:C0011119]
synonym: "decompression sickness" RELATED []
synonym: "Disease, Caisson" RELATED [MESH:D003665, MSH:D003665]
synonym: "Diseases, Caisson" RELATED [MESH:D003665, MSH:D003665]
synonym: "Divers' palsy" RELATED [UMLS:C0011119]
synonym: "divers' palsy" RELATED []
synonym: "Divers' paralysis" RELATED [UMLS:C0011119]
synonym: "divers' paralysis" RELATED []
synonym: "Rapture of the deep syndrome" RELATED [UMLS:C0011119]
synonym: "Sickness, Decompression" RELATED [MESH:D003665, MSH:D003665]
synonym: "The bends" RELATED [UMLS:C0011119]
synonym: "the bends" RELATED []
xref: ICD9:993.3 {source="linkedlife"}
xref: MESH:D003665 {source="UMLS:C0011119", source="MONDO:equivalentTo"}
xref: SCTID:89684003 {source="UMLS:C0011119", source="MONDO:equivalentTo"}
xref: UMLS:C0011119 {source="MONDO:equivalentTo"}
is_a: MONDO:0002570 {source="UMLS:C0011119"} ! high pressure neurological syndrome
property_value: closeMatch http://identifiers.org/snomedct/48620000
property_value: exactMatch http://identifiers.org/mesh/D003665
property_value: exactMatch http://identifiers.org/snomedct/89684003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011119

[Term]
id: MONDO:0020798
name: hypoparathyroidism, familial isolated, 2
synonym: "FIH2" EXACT [OMIM:618883]
synonym: "hypoparathyroidism, familial isolated, 2" EXACT [OMIM:618883]
synonym: "hypoparathyroidism, familial isolated, 2; FIH2" EXACT [OMIM:618883]
xref: OMIM:618883 {source="MONDO:equivalentTo"}
is_a: MONDO:0016390 {source="OMIM:618883", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial isolated hypoparathyroidism
property_value: exactMatch http://identifiers.org/omim/618883

[Term]
id: MONDO:0020800
name: demyelinating disease of central nervous system
def: "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." [NCIT:C34526]
comment: Editor note: see: https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44
synonym: "Demyelinating CNS disease" RELATED [GARD:0012052, UMLS:C0011302]
synonym: "demyelinating cns disease" RELATED []
synonym: "Demyelinating disease central nervous system (CNS)" RELATED [UMLS:C0011302]
synonym: "demyelinating disease central nervous system (cns)" RELATED []
synonym: "Demyelinating Disease of Central Nervous System" RELATED [NCIT:C34526]
synonym: "Demyelinating disease of central nervous system" RELATED [UMLS:C0011302]
synonym: "demyelinating disease of central nervous system" EXACT [NCIT:C34526]
synonym: "Demyelinating Disorder of Central Nervous System" RELATED [NCIT:C34526]
synonym: "demyelinating disorder of central nervous system" EXACT [NCIT:C34526]
synonym: "Demyelinating disorders of the central nervous system" RELATED [UMLS:C0011302]
synonym: "demyelinating disorders of the central nervous system" RELATED []
xref: GARD:0012052 {source="MONDO:equivalentTo"}
xref: ICD9:341.8 {source="linkedlife"}
xref: ICD9:341.9 {source="linkedlife"}
xref: NCIT:C34526 {source="MONDO:equivalentTo", source="UMLS:C0011302"}
xref: SCTID:6118003 {source="MONDO:equivalentTo", source="GARD:0012052", source="UMLS:C0011302"}
xref: UMLS:C0011302 {source="MONDO:equivalentTo", source="GARD:0012052"}
is_a: MONDO:0002562 {source="NCIT:C34526", source="UMLS:C0011302"} ! demyelinating disease
property_value: exactMatch http://identifiers.org/snomedct/6118003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011302
property_value: exactMatch NCIT:C34526

[Term]
id: MONDO:0020803
name: bundle branch block
def: "A defect of the bundle branches or fascicles in the electrical conduction system of the heart." [https://en.wikipedia.org/wiki/Bundle_branch_block]
xref: SCTID:6374002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005449 ! conduction system disorder
is_a: MONDO:0020755 ! heart block
is_a: MONDO:0045001 ! cardiac ventricle disease
property_value: exactMatch http://identifiers.org/snomedct/6374002

[Term]
id: MONDO:0020806
name: sinoatrial block
def: "A heart block that is initiated in the sinoatrial node." [https://en.wikipedia.org/wiki/Sinoatrial_block, MONDO:cjm]
xref: SCTID:65778007 {source="MONDO:equivalentTo"}
is_a: MONDO:0000469 ! sinoatrial node disease
is_a: MONDO:0020755 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/Heart_block"} ! heart block
property_value: exactMatch http://identifiers.org/snomedct/65778007

[Term]
id: MONDO:0020810
name: congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
comment: check if equiv to MONDO:0020628 or a superclass or equiv to
subset: ordo_disease
xref: Orphanet:508512 {source="MONDO:equivalentTo"}
is_a: MONDO:0019289 {source="Orphanet:508512"} ! hyperpigmentation of the skin
property_value: exactMatch Orphanet:508512

[Term]
id: MONDO:0020811
name: mitochondrial complex III deficiency, nuclear type
xref: OMIMPS:124000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015448 ! mitochondrial complex III deficiency

[Term]
id: MONDO:0020812
name: exposure, dental pulp
def: "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." [MESH:D003789]
synonym: "DENT PULP EXPOSURE" RELATED [MSH:D003789]
synonym: "Dental Pulp Exposure" RELATED [MSH:D003789]
synonym: "EXPOSURE DENT PULP" RELATED [MSH:D003789]
synonym: "Exposure of tooth pulp" RELATED [UMLS:C0011406]
synonym: "Exposure, Dental Pulp" RELATED [MESH:D003789, MSH:D003789]
synonym: "PULP EXPOSURE DENT" RELATED [MSH:D003789]
synonym: "Pulp Exposure, Dental" RELATED [MESH:D003789, MSH:D003789]
xref: EFO:1001782 {source="MONDO:equivalentTo"}
xref: MESH:D003789 {source="UMLS:C0011406", source="MONDO:equivalentTo"}
xref: UMLS:C0011406 {source="MONDO:equivalentTo"}
is_a: MONDO:0003394 {source="MESH:D003789"} ! dental pulp disease
property_value: closeMatch http://identifiers.org/snomedct/370484007
property_value: exactMatch http://identifiers.org/mesh/D003789
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011406

[Term]
id: MONDO:0020815
name: dentigerous cyst
def: "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." [MESH:D003803]
synonym: "Cyst, Dentigerous" RELATED [MESH:D003803, MSH:D003803]
synonym: "Cysts, Dentigerous" RELATED [MESH:D003803, MSH:D003803]
synonym: "Dentigerous Cyst" RELATED [MSH:D003803]
synonym: "Dentigerous cyst" RELATED [UMLS:C0011428]
synonym: "dentigerous cyst" EXACT []
synonym: "Dentigerous cyst of jaw" RELATED [UMLS:C0011428]
synonym: "dentigerous cyst of jaw" RELATED []
synonym: "Dentigerous Cysts" RELATED [MESH:D003803, MSH:D003803]
synonym: "Dentigerous odontogenic cyst" RELATED [UMLS:C0011428]
synonym: "dentigerous odontogenic cyst" RELATED []
synonym: "follicular cyst of jaw" RELATED []
xref: MESH:D003803 {source="UMLS:C0011428", source="MONDO:equivalentTo"}
xref: SCTID:9245008 {source="UMLS:C0011428", source="MONDO:equivalentTo"}
xref: UMLS:C0011428 {source="MONDO:equivalentTo"}
is_a: MONDO:0006328 {source="MESH:D003803", source="linkedlife"} ! odontogenic cyst
property_value: exactMatch http://identifiers.org/mesh/D003803
property_value: exactMatch http://identifiers.org/snomedct/9245008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011428

[Term]
id: MONDO:0020818
name: secondary dentine
def: "Dentin formed by normal pulp after completion of root end formation." [MESH:D003809]
synonym: "DENTIN SECOND" RELATED [MSH:D003809]
synonym: "Dentin, Secondary" RELATED [MSH:D003809]
synonym: "Dentins, Secondary" RELATED [MESH:D003809, MSH:D003809]
synonym: "Irregular dentin" RELATED [UMLS:C0011434]
synonym: "irregular dentin" RELATED []
synonym: "Irregular dentine" RELATED [UMLS:C0011434]
synonym: "irregular dentine" RELATED []
synonym: "Reparative dentine" RELATED [UMLS:C0011434]
synonym: "reparative dentine" RELATED []
synonym: "Sclerotic dentine" RELATED [UMLS:C0011434]
synonym: "sclerotic dentine" RELATED []
synonym: "SECOND DENTIN" RELATED [MSH:D003809]
synonym: "Secondary Dentin" RELATED [MESH:D003809, MSH:D003809]
synonym: "Secondary dentin" RELATED [UMLS:C0011434]
synonym: "secondary dentin" EXACT []
synonym: "Secondary dentine" RELATED [UMLS:C0011434]
synonym: "secondary dentine" RELATED []
synonym: "Secondary Dentins" RELATED [MESH:D003809, MSH:D003809]
synonym: "Tertiary dentine" RELATED [UMLS:C0011434]
synonym: "tertiary dentine" RELATED []
xref: MESH:D003809 {source="MONDO:equivalentTo", source="UMLS:C0011434"}
xref: SCTID:59818004 {source="MONDO:equivalentTo", source="UMLS:C0011434"}
xref: UMLS:C0011434 {source="MONDO:equivalentTo"}
is_a: MONDO:0003394 {source="MESH:D003809"} ! dental pulp disease
property_value: exactMatch http://identifiers.org/mesh/D003809
property_value: exactMatch http://identifiers.org/snomedct/59818004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011434

[Term]
id: MONDO:0020830
name: diaphragmitis
synonym: "diaphragmatitis" EXACT [UMLS:C0011985]
synonym: "diaphragmitis" EXACT [UMLS:C0011985]
xref: EFO:0000937 {source="MONDO:equivalentTo"}
xref: SCTID:73160007 {source="MONDO:equivalentTo", source="UMLS:C0011985"}
xref: UMLS:C0011985 {source="MONDO:equivalentTo"}
is_a: MONDO:0005728 {source="linkedlife"} ! diaphragm disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/73160007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011985

[Term]
id: MONDO:0020831
name: congenital vertebral-cardiac-renal anomalies syndrome
subset: ordo_malformation_syndrome
synonym: "VCRL" EXACT [MONDO:cjm]
synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT [OMIMPS:617660]
xref: OMIMPS:617660 {source="MONDO:equivalentTo"}
xref: Orphanet:521438 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015506 {source="Orphanet:521438"} ! rare syndrome with cardiac malformations
is_a: MONDO:0019589 {source="Orphanet:521438"} ! syndromic genetic deafness
is_a: MONDO:0019721 {source="Orphanet:521438"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0043008 {source="Orphanet:521438"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: exactMatch Orphanet:521438

[Term]
id: MONDO:0020835
name: methemoglobinemia, alpha type
synonym: "methemoglobinemia, alpha type" EXACT [OMIM:617973]
xref: OMIM:617973 {source="MONDO:equivalentTo"}
is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia
relationship: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy
property_value: exactMatch http://identifiers.org/omim/617973

[Term]
id: MONDO:0020837
name: oocyte maturation defect 5
synonym: "oocyte maturation defect 5; OOMD5" EXACT [OMIM:617996]
synonym: "OOMD5" EXACT [OMIM:617996]
xref: OMIM:617996 {source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:617996"} ! inherited oocyte maturation defect
property_value: exactMatch http://identifiers.org/omim/617996

[Term]
id: MONDO:0020838
name: anterior nasal diphtheria
def: "Infection of the anterior nasal structures by Corynebacterium diphtheriae." [NCIT:C34542]
synonym: "Anterior Nasal Diphtheria" RELATED [NCIT:C34542]
synonym: "Anterior nasal diphtheria" RELATED [UMLS:C0012553]
synonym: "anterior nasal diphtheria" EXACT [NCIT:C34542]
xref: ICD9:032.2 {source="linkedlife"}
xref: NCIT:C34542 {source="MONDO:equivalentTo", source="UMLS:C0012553"}
xref: SCTID:15682004 {source="MONDO:equivalentTo", source="UMLS:C0012553"}
xref: UMLS:C0012553 {source="MONDO:equivalentTo"}
is_a: MONDO:0005504 {source="NCIT:C34542", source="UMLS:C0012553"} ! diphtheria
property_value: exactMatch http://identifiers.org/snomedct/15682004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012553
property_value: exactMatch NCIT:C34542

[Term]
id: MONDO:0020840
name: pulmonary alveolar proteinosis with hypogammaglobulinemia
synonym: "PAPHG" EXACT [OMIM:618042]
synonym: "pulmonary alveolar proteinosis with hypogammaglobulinemia; PAPHG" EXACT [OMIM:618042]
xref: OMIM:618042 {source="MONDO:equivalentTo"}
xref: UMLS:CN248786 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618042
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248786

[Term]
id: MONDO:0020841
name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures
synonym: "NEDCAS" EXACT [OMIM:618056]
synonym: "neurodevelopmental disorder with cerebellar atrophy and with or without seizures; NEDCAS" EXACT [OMIM:618056]
xref: OMIM:618056 {source="MONDO:equivalentTo"}
xref: UMLS:CN252657 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252657

[Term]
id: MONDO:0020843
name: pseudomembranous diphtheritic conjunctivitis
def: "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." [NCIT:C34543]
synonym: "Conjunctival diphtheria" RELATED [UMLS:C0012554]
synonym: "conjunctival diphtheria" EXACT []
synonym: "Pseudomembranous Diphtheritic Conjunctivitis" RELATED [NCIT:C34543]
synonym: "Pseudomembranous diphtheritic conjunctivitis" RELATED [UMLS:C0012554]
synonym: "pseudomembranous diphtheritic conjunctivitis" EXACT [NCIT:C34543]
synonym: "pseudomembranous diphtheritic conjunctivitis" RELATED []
xref: ICD9:032.81 {source="linkedlife"}
xref: NCIT:C34543 {source="MONDO:equivalentTo", source="UMLS:C0012554"}
xref: SCTID:7773002 {source="MONDO:equivalentTo", source="UMLS:C0012554"}
xref: UMLS:C0012554 {source="MONDO:equivalentTo"}
is_a: MONDO:0001217 {source="NCIT:C34543", source="UMLS:C0012554"} ! pseudomembranous conjunctivitis
is_a: MONDO:0005504 ! diphtheria
property_value: exactMatch http://identifiers.org/snomedct/7773002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012554
property_value: exactMatch NCIT:C34543

[Term]
id: MONDO:0020845
name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5
synonym: "PEOB5" EXACT [OMIM:618098]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5; PEOB5" EXACT [OMIM:618098]
synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [OMIM:618098]
xref: OMIM:618098 {source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="OMIM:618098"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
property_value: exactMatch http://identifiers.org/omim/618098

[Term]
id: MONDO:0020846
name: mental retardation, autosomal recessive 64
synonym: "MENTAL RETARDATION, autosomal recessive 64; MRT64" EXACT [OMIM:618103]
synonym: "MRT64" EXACT [OMIM:618103]
xref: OMIM:618103 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618103

[Term]
id: MONDO:0020847
name: mental retardation, autosomal dominant 58
synonym: "MENTAL RETARDATION, autosomal dominant 58; MRD58" EXACT [OMIM:618106]
synonym: "MRD58" EXACT [OMIM:618106]
xref: OMIM:618106 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618106"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618106

[Term]
id: MONDO:0020848
name: osteopetrosis, autosomal dominant 3
synonym: "OPTA3" EXACT [OMIM:618107]
synonym: "OSTEOPETROSIS, autosomal dominant 3; OPTA3" EXACT [OMIM:618107]
xref: OMIM:618107 {source="MONDO:equivalentTo"}
is_a: MONDO:0020645 ! autosomal dominant osteopetrosis
property_value: exactMatch http://identifiers.org/omim/618107

[Term]
id: MONDO:0020849
name: immunodeficiency 57
synonym: "IMD57" EXACT [OMIM:618108]
synonym: "IMMUNODEFICIENCY 57; IMD57" EXACT [OMIM:618108]
xref: OMIM:618108 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/618108

[Term]
id: MONDO:0020850
name: intellectual disability, autosomal recessive 65
synonym: "mental retardation, autosomal recessive 65; MRT65" EXACT [OMIM:618109]
synonym: "MRT65" EXACT [OMIM:618109]
xref: OMIM:618109 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618109

[Term]
id: MONDO:0020851
name: spermatogenic failure 30
synonym: "spermatogenic failure 30; SPGF30" EXACT [OMIM:618110]
synonym: "SPGF30" EXACT [OMIM:618110]
xref: OMIM:618110 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618110

[Term]
id: MONDO:0020852
name: spermatogenic failure 31
synonym: "spermatogenic failure 31; SPGF31" EXACT [OMIM:618112]
synonym: "SPGF31" EXACT [OMIM:618112]
xref: OMIM:618112 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618112

[Term]
id: MONDO:0020853
name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization
synonym: "encephalitis/encephalopathy, mild, with reversible myelin vacuolization; MMERV" EXACT [OMIM:618113]
synonym: "Encephalitis/encephalopathy, mild, with reversible splenial lesion" EXACT [OMIM:618113]
synonym: "MMERV" RELATED [OMIM:618113]
xref: OMIM:618113 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618113

[Term]
id: MONDO:0020854
name: Liddle syndrome 2
def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Liddle syndrome 2; LIDLS2" EXACT [OMIM:618114]
synonym: "Liddle syndrome caused by mutation in SCNN1G" EXACT []
synonym: "LIDLS2" EXACT [OMIM:618114]
synonym: "SCNN1G Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:618114 {source="MONDO:equivalentTo"}
is_a: MONDO:0008323 ! Liddle syndrome
property_value: exactMatch http://identifiers.org/omim/618114

[Term]
id: MONDO:0020855
name: spermatogenic failure 32
synonym: "spermatogenic failure 32; SPGF32" EXACT [OMIM:618115]
synonym: "SPGF32" EXACT [OMIM:618115]
xref: OMIM:618115 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618115

[Term]
id: MONDO:0020856
name: bone marrow failure syndrome 4
synonym: "BMFS4" EXACT [OMIM:618116]
synonym: "BONE MARROW FAILURE SYNDROME 4; BMFS4" EXACT [OMIM:618116]
xref: OMIM:618116 {source="MONDO:equivalentTo"}
is_a: MONDO:0000159 ! bone marrow failure syndrome
property_value: exactMatch http://identifiers.org/omim/618116

[Term]
id: MONDO:0020857
name: ovarian dysgenesis 7
synonym: "ODG7" EXACT [OMIM:618117]
synonym: "OVARIAN DYSGENESIS 7; ODG7" EXACT [OMIM:618117]
xref: OMIM:618117 {source="MONDO:equivalentTo"}
is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/618117

[Term]
id: MONDO:0020858
name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
synonym: "MC5DN5" EXACT [OMIM:618120]
synonym: "Mitochondrial Complex 5 (Atp Synthase) Deficiency, Atp5F1D Type" EXACT [OMIM:618120]
synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5" EXACT [OMIM:618120]
xref: OMIM:618120 {source="MONDO:equivalentTo"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
property_value: exactMatch http://identifiers.org/omim/618120

[Term]
id: MONDO:0020860
name: faucial diphtheria
def: "Infection of the fauces by Corynebacterium diphtheriae." [NCIT:C34545]
synonym: "Diphtheritic membrane" RELATED [UMLS:C0012556]
synonym: "diphtheritic membrane" RELATED []
synonym: "Diphtheritic membranous angina" RELATED [UMLS:C0012556]
synonym: "diphtheritic membranous angina" RELATED []
synonym: "Faucial Diphtheria" RELATED [NCIT:C34545]
synonym: "Faucial diphtheria" RELATED [UMLS:C0012556]
synonym: "faucial diphtheria" EXACT [NCIT:C34545]
xref: ICD9:032.0 {source="linkedlife"}
xref: NCIT:C34545 {source="MONDO:equivalentTo", source="UMLS:C0012556"}
xref: SCTID:3419005 {source="MONDO:equivalentTo", source="UMLS:C0012556"}
xref: UMLS:C0012556 {source="MONDO:equivalentTo"}
is_a: MONDO:0005504 ! diphtheria
is_a: MONDO:0021059 ! head or neck disease/disorder
property_value: exactMatch http://identifiers.org/snomedct/3419005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012556
property_value: exactMatch NCIT:C34545

[Term]
id: MONDO:0020863
name: laryngeal diphtheria
def: "Infection of the larynx by Corynebacterium diphtheriae." [NCIT:C34546]
synonym: "Diphtheritic laryngotracheitis" RELATED [UMLS:C0012557]
synonym: "diphtheritic laryngotracheitis" RELATED []
synonym: "Laryngeal Diphtheria" RELATED [NCIT:C34546]
synonym: "Laryngeal diphtheria" RELATED [UMLS:C0012557]
synonym: "laryngeal diphtheria" EXACT [NCIT:C34546]
xref: ICD9:032.3 {source="linkedlife"}
xref: NCIT:C34546 {source="MONDO:equivalentTo", source="UMLS:C0012557"}
xref: SCTID:50215002 {source="MONDO:equivalentTo", source="UMLS:C0012557"}
xref: UMLS:C0012557 {source="MONDO:equivalentTo"}
is_a: MONDO:0004382 {source="linkedlife"} ! laryngeal disease
is_a: MONDO:0005504 ! diphtheria
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: exactMatch http://identifiers.org/snomedct/50215002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012557
property_value: exactMatch NCIT:C34546

[Term]
id: MONDO:0020866
name: nasopharyngeal diphtheria
def: "Infection of the nasopharynx by Corynebacterium diphtheriae." [NCIT:C34547]
synonym: "Nasopharyngeal Diphtheria" RELATED [NCIT:C34547]
synonym: "Nasopharyngeal diphtheria" RELATED [UMLS:C0012558]
synonym: "nasopharyngeal diphtheria" EXACT [NCIT:C34547]
xref: ICD9:032.1 {source="linkedlife"}
xref: NCIT:C34547 {source="MONDO:equivalentTo", source="UMLS:C0012558"}
xref: SCTID:75589004 {source="MONDO:equivalentTo", source="UMLS:C0012558"}
xref: UMLS:C0012558 {source="MONDO:equivalentTo"}
is_a: MONDO:0004821 {source="linkedlife"} ! nasopharyngeal disease
is_a: MONDO:0005504 ! diphtheria
is_a: MONDO:0024355 ! respiratory tract infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/snomedct/75589004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012558
property_value: exactMatch NCIT:C34547

[Term]
id: MONDO:0020871
name: obsolete name syndrome
xref: Orphanet:623 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch Orphanet:623
is_obsolete: true
replaced_by: MONDO:0015285

[Term]
id: MONDO:0020920
name: escherichia coli infection
def: "Infection with the organism Escherichia Coli." [NCIT:C34594]
synonym: "Bacterial infection caused by E. coli" RELATED [UMLS:C0014836]
synonym: "Bacterial infection due to E. coli" RELATED [UMLS:C0014836]
synonym: "Colibacillosis" RELATED [UMLS:C0014836]
synonym: "E COLI INFECT" RELATED [MSH:D004927]
synonym: "E Coli Infection" RELATED [NCIT:C34594]
synonym: "E coli Infection" RELATED [MESH:D004927, MSH:D004927]
synonym: "e coli infection" EXACT [NCIT:C34594]
synonym: "E coli Infections" RELATED [MESH:D004927, MSH:D004927]
synonym: "E coli infections" RELATED [GTR:AN0485754, HP:0002740]
synonym: "E coli infections, recurrent" RELATED [GTR:AN0485755, HP:0002740]
synonym: "E. coli Infection" RELATED [MSH:D004927]
synonym: "E. coli infection" RELATED [UMLS:C0014836]
synonym: "E. coli Infections" RELATED [MSH:D004927]
synonym: "ESCHERICHIA COLI INFECT" RELATED [MSH:D004927]
synonym: "Escherichia Coli Infection" RELATED [NCIT:C34594]
synonym: "Escherichia coli Infection" RELATED [MESH:D004927, MSH:D004927]
synonym: "Escherichia coli infection" RELATED [UMLS:C0014836]
synonym: "escherichia coli infection" EXACT [NCIT:C34594]
synonym: "Escherichia coli Infections" RELATED [MSH:D004927]
synonym: "INFECT E COLI" RELATED [MSH:D004927]
synonym: "INFECT ESCHERICHIA COLI" RELATED [MSH:D004927]
synonym: "Infection caused by Escherichia coli" RELATED [UMLS:C0014836]
synonym: "Infection due to Escherichia coli" RELATED [UMLS:C0014836]
synonym: "Infection, E coli" RELATED [MESH:D004927, MSH:D004927]
synonym: "Infection, E. coli" RELATED [MSH:D004927]
synonym: "Infection, Escherichia coli" RELATED [MESH:D004927, MSH:D004927]
synonym: "Infections, E coli" RELATED [MESH:D004927, MSH:D004927]
synonym: "Infections, Escherichia coli" RELATED [MESH:D004927, MSH:D004927]
synonym: "Recurrent E. coli infections" RELATED [GTR:AN0474198, HP:0002740]
xref: EFO:1001318 {source="MONDO:equivalentTo"}
xref: GTR:AN0474198 {source="UMLS:C0014836"}
xref: GTR:AN0485754 {source="UMLS:C0014836"}
xref: GTR:AN0485755 {source="UMLS:C0014836"}
xref: HP:0002740 {source="UMLS:C0014836"}
xref: MESH:D004927 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: NCIT:C34594 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: SCTID:71057007 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: UMLS:C0014836 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="NCIT:C34594", source="UMLS:C0014836"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D004927
property_value: exactMatch http://identifiers.org/snomedct/71057007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014836
property_value: exactMatch NCIT:C34594

[Term]
id: MONDO:0020927
name: postaxial polydactyly
comment: Editor note: consider merge with MONDO:0017426 see https://github.com/monarch-initiative/mondo/issues/1346
xref: OMIMPS:174200 {source="MONDO:equivalentTo"}
is_a: MONDO:0011348 {source="MONDO:cjm"} ! non-syndromic polydactyly

[Term]
id: MONDO:0020937
name: contractures, pterygia, and variable skeletal fusions syndrome
xref: OMIMPS:178110 {source="MONDO:equivalentTo"}
is_a: MONDO:0017415 ! multiple pterygium syndrome

[Term]
id: MONDO:0020944
name: fungal infection of eye
def: "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." [MESH:D015821]
synonym: "EYE INFECT FUNGAL" RELATED [MSH:D015821]
synonym: "Eye Infection, Fungal" RELATED [MESH:D015821, MSH:D015821]
synonym: "Eye Infections, Fungal" RELATED [MSH:D015821]
synonym: "FUNGAL EYE INFECT" RELATED [MSH:D015821]
synonym: "Fungal Eye Infection" RELATED [MESH:D015821, MSH:D015821]
synonym: "Fungal eye infection" RELATED [UMLS:C0015405]
synonym: "fungal eye infection" RELATED []
synonym: "Fungal Eye Infections" RELATED [MESH:D015821, MSH:D015821]
synonym: "Fungal infection of eye" RELATED [UMLS:C0015405]
synonym: "fungal infection of eye" EXACT []
synonym: "Fungal Ocular Infection" RELATED [MESH:D015821, MSH:D015821]
synonym: "Fungal Ocular Infections" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infection, Fungal Eye" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infection, Fungal Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infection, Ocular Mycotic" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infections, Fungal Eye" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infections, Fungal Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "Infections, Ocular Mycotic" RELATED [MESH:D015821, MSH:D015821]
synonym: "Mycoses, Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "Mycosis, Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "MYCOTIC INFECT OCULAR" RELATED [MSH:D015821]
synonym: "Mycotic Infection, Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "Mycotic Infections, Ocular" RELATED [MESH:D015821, MSH:D015821]
synonym: "OCULAR INFECT FUNGAL" RELATED [MSH:D015821]
synonym: "Ocular Infection, Fungal" RELATED [MESH:D015821, MSH:D015821]
synonym: "Ocular Infections, Fungal" RELATED [MESH:D015821, MSH:D015821]
synonym: "Ocular Mycoses" RELATED [MESH:D015821, MSH:D015821]
synonym: "Ocular Mycosis" RELATED [MESH:D015821, MSH:D015821]
synonym: "Ocular mycosis" RELATED [UMLS:C0015405]
synonym: "ocular mycosis" RELATED []
synonym: "Ocular Mycotic Infection" RELATED [MESH:D015821, MSH:D015821]
synonym: "Ocular Mycotic Infections" RELATED [MESH:D015821, MSH:D015821]
synonym: "Oculomycoses" RELATED [MESH:D015821, MSH:D015821]
synonym: "Oculomycosis" RELATED [MESH:D015821, MSH:D015821]
xref: ICD9:117.9 {source="linkedlife"}
xref: MESH:D015821 {source="MONDO:equivalentTo", source="UMLS:C0015405"}
xref: SCTID:31194008 {source="MONDO:equivalentTo", source="UMLS:C0015405"}
xref: UMLS:C0015405 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="MESH:D015821"} ! fungal infectious disease
is_a: MONDO:0043885 {source="MESH:D015821"} ! eye infectious disease
property_value: exactMatch http://identifiers.org/mesh/D015821
property_value: exactMatch http://identifiers.org/snomedct/31194008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015405

[Term]
id: MONDO:0020947
name: parasitic eye infection
def: "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." [MESH:D015822]
synonym: "EYE INFECT PARASITIC" RELATED [MSH:D015822]
synonym: "Eye Infection, Parasitic" RELATED [MESH:D015822, MSH:D015822]
synonym: "Eye Infections, Parasitic" RELATED [MSH:D015822]
synonym: "Infection, Parasitic Eye" RELATED [MESH:D015822, MSH:D015822]
synonym: "Infection, Parasitic Ocular" RELATED [MESH:D015822, MSH:D015822]
synonym: "Infections, Parasitic Eye" RELATED [MESH:D015822, MSH:D015822]
synonym: "Infections, Parasitic Ocular" RELATED [MESH:D015822, MSH:D015822]
synonym: "OCULAR INFECT PARASITIC" RELATED [MSH:D015822]
synonym: "Ocular Infection, Parasitic" RELATED [MESH:D015822, MSH:D015822]
synonym: "Ocular Infections, Parasitic" RELATED [MESH:D015822, MSH:D015822]
synonym: "PARASITIC EYE INFECT" RELATED [MSH:D015822]
synonym: "Parasitic Eye Infection" RELATED [MESH:D015822, MSH:D015822]
synonym: "Parasitic eye infection" RELATED [UMLS:C0015406]
synonym: "parasitic eye infection" EXACT []
synonym: "Parasitic Eye Infections" RELATED [MESH:D015822, MSH:D015822]
synonym: "Parasitic Ocular Infection" RELATED [MESH:D015822, MSH:D015822]
synonym: "Parasitic Ocular Infections" RELATED [MESH:D015822, MSH:D015822]
xref: ICD9:136.9 {source="linkedlife"}
xref: MESH:D015822 {source="MONDO:equivalentTo", source="UMLS:C0015406"}
xref: SCTID:312418006 {source="MONDO:equivalentTo", source="UMLS:C0015406"}
xref: UMLS:C0015406 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="MESH:D015822", source="linkedlife"} ! parasitic infection
is_a: MONDO:0043885 {source="MESH:D015822", source="linkedlife"} ! eye infectious disease
property_value: exactMatch http://identifiers.org/mesh/D015822
property_value: exactMatch http://identifiers.org/snomedct/312418006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015406

[Term]
id: MONDO:0020950
name: viral eye infection
def: "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." [MESH:D015828]
synonym: "EYE INFECT VIRAL" RELATED [MSH:D015828]
synonym: "Eye Infection, Viral" RELATED [MESH:D015828, MSH:D015828]
synonym: "Eye Infections, Viral" RELATED [MSH:D015828]
synonym: "Infection, Viral Eye" RELATED [MESH:D015828, MSH:D015828]
synonym: "Infection, Viral Ocular" RELATED [MESH:D015828, MSH:D015828]
synonym: "Infections, Viral Eye" RELATED [MESH:D015828, MSH:D015828]
synonym: "Infections, Viral Ocular" RELATED [MESH:D015828, MSH:D015828]
synonym: "OCULAR INFECT VIRAL" RELATED [MSH:D015828]
synonym: "Ocular Infection, Viral" RELATED [MESH:D015828, MSH:D015828]
synonym: "Ocular Infections, Viral" RELATED [MESH:D015828, MSH:D015828]
synonym: "VIRAL EYE INFECT" RELATED [MSH:D015828]
synonym: "Viral Eye Infection" RELATED [MESH:D015828, MSH:D015828]
synonym: "Viral eye infection" RELATED [UMLS:C0015407]
synonym: "viral eye infection" EXACT []
synonym: "Viral Eye Infections" RELATED [MESH:D015828, MSH:D015828]
synonym: "Viral Ocular Infection" RELATED [MESH:D015828, MSH:D015828]
synonym: "Viral Ocular Infections" RELATED [MESH:D015828, MSH:D015828]
xref: MESH:D015828 {source="MONDO:equivalentTo", source="UMLS:C0015407"}
xref: SCTID:312132001 {source="MONDO:equivalentTo", source="UMLS:C0015407"}
xref: UMLS:C0015407 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="MESH:D015828"} ! viral infectious disease
is_a: MONDO:0043885 {source="MESH:D015828"} ! eye infectious disease
property_value: exactMatch http://identifiers.org/mesh/D015828
property_value: exactMatch http://identifiers.org/snomedct/312132001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015407

[Term]
id: MONDO:0020959
name: Mansonella ozzardi infection
def: "An infection that is caused by the organism Mansonella ozzardi." [NCIT:C34612]
synonym: "Filariasis ozzardi" RELATED [UMLS:C0016089]
synonym: "filariasis ozzardi" RELATED []
synonym: "Mansonella Ozzardi Infection" RELATED [NCIT:C34612]
synonym: "Mansonella ozzardi infection" RELATED [UMLS:C0016089]
synonym: "mansonella ozzardi infection" EXACT [NCIT:C34612]
synonym: "mansonella ozzardi infection" RELATED []
synonym: "Ozzardian filariasis" RELATED [UMLS:C0016089]
synonym: "ozzardian filariasis" EXACT []
xref: ICD9:125.5 {source="linkedlife"}
xref: NCIT:C34612 {source="UMLS:C0016089", source="MONDO:equivalentTo"}
xref: SCTID:30865009 {source="UMLS:C0016089", source="MONDO:equivalentTo"}
xref: UMLS:C0016089 {source="MONDO:equivalentTo"}
is_a: MONDO:0005838 {source="linkedlife"} ! mansonelliasis
is_a: MONDO:0005943 ! Rhabditida infectious disease
property_value: exactMatch http://identifiers.org/snomedct/30865009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016089
property_value: exactMatch NCIT:C34612

[Term]
id: MONDO:0020971
name: gonococcal urethritis
def: "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." [NCIT:C26787]
synonym: "gc urethritis" EXACT [NCIT:C26787]
synonym: "Gonococcal urethritis" RELATED [NCIT:C26787, UMLS:C0018078]
synonym: "gonococcal urethritis" EXACT [NCIT:C26787]
xref: NCIT:C26787 {source="UMLS:C0018078", source="MONDO:equivalentTo"}
xref: SCTID:236682002 {source="UMLS:C0018078", source="MONDO:equivalentTo"}
xref: UMLS:C0018078 {source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="linkedlife"} ! gonorrhea
is_a: MONDO:0005297 {source="NCIT:C26787"} ! urethritis (disease)
property_value: exactMatch http://identifiers.org/snomedct/236682002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018078
property_value: exactMatch NCIT:C26787

[Term]
id: MONDO:0020974
name: laryngeal granuloma
def: "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." [MESH:D006102]
synonym: "Granuloma of Larynx" RELATED [MESH:D006102, MSH:D006102]
synonym: "Granuloma, Laryngeal" RELATED [MSH:D006102]
synonym: "Granulomas, Laryngeal" RELATED [MESH:D006102, MSH:D006102]
synonym: "Laryngeal Granuloma" RELATED [MESH:D006102, MSH:D006102, NCIT:C3068]
synonym: "Laryngeal granuloma" RELATED [UMLS:C0018196]
synonym: "laryngeal granuloma" EXACT []
synonym: "Laryngeal Granulomas" RELATED [MESH:D006102, MSH:D006102]
synonym: "Larynx Granuloma" RELATED [MESH:D006102, MSH:D006102]
synonym: "Larynx Granulomas" RELATED [MESH:D006102, MSH:D006102]
xref: ICD9:478.79 {source="linkedlife"}
xref: MESH:D006102 {source="MONDO:equivalentTo", source="UMLS:C0018196"}
xref: SCTID:72211003 {source="MONDO:equivalentTo", source="UMLS:C0018196"}
xref: UMLS:C0018196 {source="MONDO:equivalentTo"}
is_a: MONDO:0004382 {source="MESH:D006102"} ! laryngeal disease
property_value: closeMatch NCIT:C3068
property_value: exactMatch http://identifiers.org/mesh/D006102
property_value: exactMatch http://identifiers.org/snomedct/72211003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018196

[Term]
id: MONDO:0020977
name: granulomatous prostatitis
def: "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." [NCIT:C26789]
synonym: "Granulomatous Prostatitis" RELATED [NCIT:C26789]
synonym: "Granulomatous prostatitis" RELATED [UMLS:C0018204]
synonym: "granulomatous prostatitis" EXACT [NCIT:C26789]
xref: ICD9:601.8 {source="linkedlife"}
xref: NCIT:C26789 {source="MONDO:equivalentTo", source="UMLS:C0018204"}
xref: SCTID:61500009 {source="MONDO:equivalentTo", source="UMLS:C0018204"}
xref: UMLS:C0018204 {source="MONDO:equivalentTo"}
is_a: MONDO:0005280 {source="NCIT:C26789", source="UMLS:C0018204"} ! prostatitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/61500009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018204
property_value: exactMatch NCIT:C26789

[Term]
id: MONDO:0020979
name: pilosebaceous hamartoma
def: "A hamartoma characterized by localized pilosebaceous apparatus malformation." [NCIT:C5565]
synonym: "pilosebaceous hamartoma" EXACT [NCIT:C5565]
xref: NCIT:C5565 {source="MONDO:equivalentTo"}
is_a: MONDO:0021539 {source="NCIT:C5565"} ! hamartoma of skin appendage
property_value: exactMatch NCIT:C5565

[Term]
id: MONDO:0020980
name: hair nevus
def: "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion." [NCIT:C3074]
synonym: "Hair Nevus" RELATED [NCIT:C3074]
synonym: "Hair nevus" RELATED [UMLS:C0018508]
synonym: "hair nevus" EXACT [NCIT:C3074]
synonym: "Hairy Nevus" RELATED [NCIT:C3074]
synonym: "Hairy nevus" RELATED [UMLS:C0018508]
synonym: "hairy nevus" EXACT [NCIT:C3074]
synonym: "Nevoid Hypertrichosis" RELATED [NCIT:C3074]
synonym: "Nevoid hypertrichosis" RELATED [UMLS:C0018508]
synonym: "nevoid hypertrichosis" EXACT [NCIT:C3074]
synonym: "nevoid hypertrichosis" RELATED []
xref: NCIT:C3074 {source="MONDO:equivalentTo", source="UMLS:C0018508"}
xref: SCTID:201161009 {source="MONDO:equivalentTo", source="UMLS:C0018508"}
xref: UMLS:C0018508 {source="MONDO:equivalentTo"}
is_a: MONDO:0020979 {source="NCIT:C3074"} ! pilosebaceous hamartoma
property_value: closeMatch http://identifiers.org/snomedct/21119008
property_value: exactMatch http://identifiers.org/snomedct/201161009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018508
property_value: exactMatch NCIT:C3074

[Term]
id: MONDO:0020983
name: myocardial rupture
def: "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." [MESH:D006341]
subset: gard_rare
synonym: "Cardiac Free Wall Rupture" RELATED [MESH:D006341]
synonym: "Cardiac Rupture" RELATED [MESH:D006341, MSH:D006341, NCIT:C34668]
synonym: "Cardiac Ruptures" RELATED [MESH:D006341, MSH:D006341]
synonym: "Free Wall Rupture, Heart" RELATED [MESH:D006341]
synonym: "Heart Rupture" RELATED [MSH:D006341]
synonym: "Heart Ruptures" RELATED [MESH:D006341, MSH:D006341]
synonym: "Myocardial Rupture" RELATED [NCIT:C34668]
synonym: "Rupture of heart" RELATED [UMLS:C0018813]
synonym: "Ventricular Free Wall Rupture" RELATED [MESH:D006341]
xref: GARD:0010468 {source="MONDO:equivalentTo"}
xref: MESH:D006341 {source="MONDO:equivalentTo", source="UMLS:C0018813"}
xref: UMLS:C0018813 {source="MONDO:equivalentTo", source="GARD:0010468"}
is_a: MONDO:0005267 {source="MESH:D006341"} ! heart disease
relationship: has_modifier MONDO:0021136 {source="GARD:0010468"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/29889000
property_value: closeMatch NCIT:C34668
property_value: exactMatch http://identifiers.org/mesh/D006341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018813

[Term]
id: MONDO:0020989
name: hereditary persistence of fetal hemoglobin
def: "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." [NCIT:C129072]
synonym: "Disease, Hemoglobin F" RELATED [MSH:D017086]
synonym: "Hb F disease" RELATED [UMLS:C0019025]
synonym: "HEMOGLOBIN F DIS" RELATED [MSH:D017086]
synonym: "Hemoglobin F Disease" RELATED [MSH:D017086]
synonym: "HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN" RELATED [OMIM:141900, OMIM:142200, OMIM:142250]
synonym: "Hereditary Persistence of Fetal Hemoglobin" RELATED [NCIT:C129072]
synonym: "Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025]
synonym: "hereditary persistence of fetal hemoglobin" EXACT [NCIT:C129072]
synonym: "HPFH - Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025]
xref: ICD9:282.7 {source="linkedlife"}
xref: NCIT:C129072 {source="UMLS:C0019025", source="MONDO:equivalentTo"}
xref: SCTID:191201002 {source="UMLS:C0019025", source="MONDO:equivalentTo"}
xref: UMLS:C0019025 {source="MONDO:equivalentTo"}
is_a: MONDO:0019050 ! inherited hemoglobinopathy
property_value: closeMatch http://identifiers.org/omim/141900
property_value: closeMatch http://identifiers.org/omim/142200
property_value: closeMatch http://identifiers.org/omim/142250
property_value: exactMatch http://identifiers.org/snomedct/191201002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019025
property_value: exactMatch NCIT:C129072

[Term]
id: MONDO:0020999
name: obsolete genetic chronic primary adrenal insufficiency
subset: ordo_group_of_disorders
xref: Orphanet:101960 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:101960"} ! chronic primary adrenal insufficiency
property_value: exactMatch Orphanet:101960
is_obsolete: true

[Term]
id: MONDO:0021001
name: hemochromatosis type 1
def: "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" [EFO:0006513, https://github.com/EBISPOT/efo/issues/58]
comment: Editor note: check ORDO entry
subset: ordo_disease
synonym: "C282Y/C282Y hemochromatosis" RELATED [EFO:0006513]
synonym: "classic hemochromatosis" RELATED [EFO:0006513]
synonym: "hemochromatosis, type 1" RELATED [MONDO:Lexical, OMIM:235200]
synonym: "hemochromatosis, type 1; HFE1" EXACT [OMIM:235200]
synonym: "HFE-associated hereditary hemochromatosis" RELATED [EFO:0006513]
synonym: "HFE-related hemochromatosis" RELATED [EFO:0006513]
synonym: "HFE1" EXACT [DOID:0111029, MONDO:Lexical, OMIM:235200]
synonym: "symptomatic form of classic hemochromatosis" EXACT [DOID:0111029, Orphanet:465508]
synonym: "symptomatic form of hemochromatosis type 1" EXACT [DOID:0111029]
synonym: "symptomatic form of HFE-related hereditary hemochromatosis" EXACT [DOID:0111029, Orphanet:465508]
xref: DOID:0111029 {source="MONDO:equivalentTo"}
xref: EFO:0006513 {source="MONDO:equivalentTo"}
xref: GARD:0010417 {source="MONDO:equivalentTo"}
xref: ICD10:E83.1 {source="DOID:0111029", source="MONDO:subClassOf", source="Orphanet:220489", source="Orphanet:465508"}
xref: ICD9:275.01 {source="EFO:0006513"}
xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"}
xref: OMIM:235200 {source="DOID:0111029", source="EFO:0006513", source="MONDO:equivalentTo", source="Orphanet:465508"}
xref: Orphanet:465508 {source="DOID:0111029", source="MONDO:equivalentTo"}
xref: UMLS:CN242134 {source="MONDO:equivalentTo"}
is_a: MONDO:0006507 {source="DOID:0111029", source="NCIT:C84764", source="OMIM:235200"} ! hereditary hemochromatosis
relationship: excluded_subClassOf MONDO:0016363 {source="Orphanet:465508"} ! obsolete rare hereditary hemochromatosis
relationship: has_modifier MONDO:0021137 ! not rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384665
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2827503
property_value: exactMatch DOID:0111029
property_value: exactMatch http://identifiers.org/omim/235200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN242134
property_value: exactMatch NCIT:C84764
property_value: exactMatch Orphanet:465508

[Term]
id: MONDO:0021002
name: syndactyly (disease)
def: "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." [MONDO:DesignPattern]
xref: DOID:11193 {source="MONDO:equivalentTo"}
xref: HP:0001159 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q70 {source="DOID:11193"}
xref: ICD10:Q70.0 {source="Orphanet:90025"}
xref: ICD10:Q70.1 {source="Orphanet:90025"}
xref: ICD10:Q70.2 {source="Orphanet:90025"}
xref: ICD10:Q70.3 {source="Orphanet:90025"}
xref: ICD10:Q70.4 {source="Orphanet:90025"}
xref: ICD10:Q70.9 {source="DOID:11193", source="Orphanet:90025"}
xref: ICD9:755.1 {source="DOID:11193"}
xref: MedDRA:10042778 {source="Orphanet:90025"}
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: closeMatch http://identifiers.org/snomedct/111313001
property_value: closeMatch http://identifiers.org/snomedct/156989004
property_value: closeMatch http://identifiers.org/snomedct/205151006
property_value: closeMatch http://identifiers.org/snomedct/268252004
property_value: closeMatch http://identifiers.org/snomedct/373413006
property_value: closeMatch http://identifiers.org/snomedct/75352001
property_value: exactMatch DOID:11193

[Term]
id: MONDO:0021003
name: polydactyly (disease)
def: "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." [MONDO:DesignPattern]
synonym: "hyperdactyly" EXACT [NCIT:C87110]
synonym: "polydactylism" EXACT [NCIT:C87110]
synonym: "polydactyly" RELATED [MONDO:ambiguous, OMIM:603596]
synonym: "postaxial polydactyly" RELATED [DOID:1148]
synonym: "supernumerary digit" RELATED [DOID:1148]
xref: COHD:74740 {source="MONDO:equivalentTo"}
xref: DOID:1148 {source="MONDO:equivalentTo"}
xref: HP:0010442 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q69 {source="DOID:1148"}
xref: ICD10:Q69.0 {source="Orphanet:2913"}
xref: ICD10:Q69.1 {source="Orphanet:2913"}
xref: ICD10:Q69.2 {source="Orphanet:2913"}
xref: ICD10:Q69.9 {source="DOID:1148", source="Orphanet:2913"}
xref: ICD9:755.0 {source="DOID:1148"}
xref: ICD9:755.00 {source="DOID:1148", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10036063 {source="Orphanet:2913"}
xref: NCIT:C87110 {source="DOID:1148", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.04"}
xref: OMIM:603596 {source="DOID:1148", source="MONDO:equivalentTo", source="Orphanet:2913"}
xref: SCTID:367506006 {source="DOID:1148", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.49"}
is_a: MONDO:0000839 {source="DOID:1148", source="NCIT:C87110/inferred", source="linkedlifedata/inferred"} ! congenital abnormality
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: closeMatch http://identifiers.org/mesh/C562429
property_value: closeMatch http://identifiers.org/snomedct/156988007
property_value: closeMatch http://identifiers.org/snomedct/205119005
property_value: closeMatch http://identifiers.org/snomedct/205120004
property_value: closeMatch http://identifiers.org/snomedct/205136002
property_value: closeMatch http://identifiers.org/snomedct/403562000
property_value: closeMatch http://identifiers.org/snomedct/74537000
property_value: exactMatch DOID:1148
property_value: exactMatch http://identifiers.org/omim/603596
property_value: exactMatch http://identifiers.org/snomedct/367506006
property_value: exactMatch NCIT:C87110

[Term]
id: MONDO:0021004
name: brachydactyly (disease)
def: "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." [MONDO:DesignPattern]
synonym: "brachydactyly" RELATED [DOID:0050581]
xref: DOID:0050581 {source="MONDO:equivalentTo"}
xref: HP:0001156 {source="MONDO:otherHierarchy", source="ontobio"}
xref: MESH:D059327 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
property_value: exactMatch DOID:0050581
property_value: exactMatch http://identifiers.org/mesh/D059327

[Term]
id: MONDO:0021005
name: faciodigitogenital syndrome
def: "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." [MONDO:cjm]
synonym: "Aarskog syndrome" NARROW []
synonym: "Aarskog-Scott syndrome" NARROW []
synonym: "faciogenital dysplasia" RELATED []
xref: ICD10:Q87.1 {source="ORDO:915/ntbt", source="ORDO:915/inclusion"}
xref: MedDRA:10067148 {source="ORDO:915/e"}
is_a: MONDO:0015329 {source="Orphanet:915-abstracted"} ! malformation syndrome with short stature
is_a: MONDO:0015620 {source="Orphanet:915-abstracted"} ! syndromic urogenital tract malformation
property_value: exactMatch http://identifiers.org/meddra/10067148
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0175701

[Term]
id: MONDO:0021007
name: obsolete stage of disease
is_obsolete: true

[Term]
id: MONDO:0021008
name: secondary antiphospholipid syndrome
def: "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." [https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/]
xref: ICD9:795.79 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:239895006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0409983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007140 {source="MONDO:cjm", source="MONDOLEX:0021008", source="linkedlifedata"} ! antiphospholipid syndrome
property_value: exactMatch http://identifiers.org/snomedct/239895006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409983

[Term]
id: MONDO:0021009
name: salivary gland mucoepidermoid carcinoma
def: "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5908]
synonym: "mucoepidermoid carcinoma of salivary gland" EXACT [NCIT:C5908]
synonym: "mucoepidermoid carcinoma of the salivary gland" EXACT [NCIT:C5908]
synonym: "saliva-secreting gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland mucoepidermoid carcinoma" EXACT [NCIT:C5908]
xref: NCIT:C5908 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match"}
xref: SCTID:423708008 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"}
xref: UMLS:C1335903 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5908", source="MONDO:equivalentTo"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0021009", source="NCIT:C5908"} ! salivary gland carcinoma
is_a: MONDO:0044964 ! oral cavity mucoepidermoid carcinoma
property_value: exactMatch http://identifiers.org/snomedct/423708008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335903
property_value: exactMatch NCIT:C5908

[Term]
id: MONDO:0021010
name: skin lymphangiosarcoma
def: "A malignant vascular neoplasm of the skin arising from the lymphatic vessels." [NCIT:C4490]
synonym: "lymphangiosarcoma of skin" EXACT [NCIT:C4490]
synonym: "lymphangiosarcoma of Stewart and Treves" EXACT [NCIT:C4490]
synonym: "lymphangiosarcoma of Stewart and Treves" RELATED [NCIT:C4490]
synonym: "lymphangiosarcoma of the skin" EXACT [NCIT:C4490]
synonym: "skin lymphangiosarcoma" EXACT [NCIT:C4490]
xref: ICD9:171.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4490 {source="MONDO:equivalentTo"}
xref: SCTID:62497000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.70/0.38/0.09"}
xref: UMLS:C0346082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4490"}
is_a: MONDO:0002656 ! skin carcinoma
is_a: MONDO:0006282 {source="MONDOLEX:0021010", source="NCIT:C4490", source="linkedlifedata"} ! lymphangiosarcoma
is_a: MONDO:0006414 {source="MONDO:Redundant", source="NCIT:C4490", source="OWLReasoner:2017"} ! skin sarcoma
property_value: exactMatch http://identifiers.org/snomedct/62497000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346082
property_value: exactMatch NCIT:C4490

[Term]
id: MONDO:0021011
name: hereditary progressive chorea without dementia
synonym: "BCH" RELATED [OMIM:118700]
synonym: "BHC" RELATED [MONDO:Lexical, OMIM:118700]
synonym: "chorea, benign hereditary" RELATED [MONDO:Lexical, OMIM:118700]
synonym: "chorea, benign hereditary; BHC" EXACT [OMIM:118700]
synonym: "hereditary progressive chorea without dementia" EXACT [OMIM:118700]
xref: OMIM:118700 {source="MONDO:equivalentTo", source="EFO:0004152", source="Orphanet:1429"}
is_a: MONDO:0001595 {source="MONDOLEX:0021011"} ! choreatic disease
property_value: exactMatch http://identifiers.org/omim/118700

[Term]
id: MONDO:0021012
name: susceptibility to visceral leishmaniasis, 1
subset: predisposition
synonym: "kala-Azar, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:608207]
synonym: "kala-Azar, susceptibility to, 1; KAZA1" EXACT [OMIM:608207]
synonym: "KAZA1" RELATED [MONDO:Lexical, OMIM:608207]
synonym: "leishmaniasis, visceral, susceptibility to, 1" EXACT [OMIM:608207]
xref: OMIM:608207 {source="MONDO:equivalentTo"}
is_a: MONDO:0005445 {source="DC-OMIM:608207", source="MONDOLEX:0021012", source="OMIM:608207"} ! visceral leishmaniasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969520
property_value: exactMatch http://identifiers.org/omim/608207

[Term]
id: MONDO:0021013
name: trichothiodystrophy 4, nonphotosensitive
def: "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." [NCIT:C146899]
synonym: "Amish brittle hair brain syndrome" RELATED [OMIM:234050]
synonym: "BIDS syndrome" RELATED [OMIM:234050]
synonym: "hair-brain syndrome" RELATED [OMIM:234050]
synonym: "MPLKIP nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonphotosensitive trichothiodystrophy" RELATED [DOID:0050528]
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP" EXACT [MONDO:design_pattern]
synonym: "Pollitt syndrome" RELATED [OMIM:234050]
synonym: "trichothiodystrophy 4, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:234050]
synonym: "trichothiodystrophy 4, nonphotosensitive; TTD4" EXACT [OMIM:234050]
synonym: "trichothiodystrophy, nonphotosensitive 1" RELATED [OMIM:234050]
synonym: "trichothiodystrophy-neurocutaneous syndrome" RELATED [OMIM:234050]
synonym: "TTD4" RELATED [MONDO:Lexical, OMIM:234050]
xref: DOID:0050528 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:783.43 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C146899 {source="MONDO:equivalentTo"}
xref: OMIM:234050 {source="MONDO:equivalentTo", source="DOID:0050528"}
xref: Orphanet:75790 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:403796005 {source="MONDO:kboom-pr-1.00/0.79/7.41", source="MONDO:equivalentTo"}
is_a: MONDO:0009317 {source="MONDO:Redundant"} ! nonphotosensitive trichothiodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866504
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1961117
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3495483
property_value: exactMatch DOID:0050528
property_value: exactMatch http://identifiers.org/omim/234050
property_value: exactMatch http://identifiers.org/snomedct/403796005
property_value: exactMatch NCIT:C146899
property_value: exactMatch Orphanet:75790

[Term]
id: MONDO:0021016
name: channelopathy
def: "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." [https://en.wikipedia.org/wiki/Channelopathy]
synonym: "disorder of ion channel activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of ion channel activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "ion channel activity disease" EXACT [MONDO:design_pattern]
xref: MESH:D053447 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: UMLS:C1720983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044975 ! disease of transporter activity
property_value: exactMatch http://identifiers.org/mesh/D053447
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720983

[Term]
id: MONDO:0021017
name: synaptopathy
def: "A disease caused by dysfunction of synapses." [https://en.wikipedia.org/wiki/Synaptopathy]
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected

[Term]
id: MONDO:0021018
name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
def: "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, Orphanet:34516]
comment: Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"}
subset: ordo_disease {source="Orphanet:34516"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [DOID:0110305]
synonym: "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1D" EXACT [Orphanet:34516]
synonym: "LGMD1D (DNAJB6)" EXACT [MONDO:cjm]
synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical, OMIM:603511]
synonym: "LGMD1E (Bushby and Beckmann, 2003)" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, OMIM:603511]
synonym: "limb-girdle muscular dystrophy type 1D" RELATED [GARD:0012528]
synonym: "muscular dystrophy limb-girdle type 1D" RELATED [DOID:0110305]
synonym: "muscular dystrophy limb-girdle type 1E" RELATED DEPRECATED [DOID:0110305]
synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [OMIM:603511]
synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:603511]
synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511]
synonym: "muscular dystrophy, limb-girdle, type 1E; LGMD1E" RELATED DEPRECATED [OMIM:603511]
xref: DOID:0110305 {source="MONDO:equivalentTo"}
xref: GARD:0012528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517", source="ORDO:34516/attributed", source="ORDO:34516/ntbt"}
xref: MESH:C566370 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:603511 {source="MONDO:cjm", source="ORDO:34516/e", source="Orphanet:34516", source="MONDO:equivalentTo"}
xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"}
xref: UMLS:C3501858 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:34516", source="MONDO:equivalentTo"}
is_a: MONDO:0015151 {source="DOID:0110305", source="MONDO:Redundant", source="MONDOLEX:0021018", source="OMIM:603511", source="Orphanet:34516"} ! autosomal dominant limb-girdle muscular dystrophy
property_value: exactMatch DOID:0110305
property_value: exactMatch http://identifiers.org/mesh/C566370
property_value: exactMatch http://identifiers.org/omim/603511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3501858
property_value: exactMatch Orphanet:34516

[Term]
id: MONDO:0021019
name: X-linked recessive ocular albinism
def: "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." [Orphanet:54]
subset: ordo_disease {source="Orphanet:54"}
synonym: "albinism, ocular, type 1" RELATED [OMIM:300500]
synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical, OMIM:300500]
synonym: "albinism, ocular, type I; OA1" RELATED [OMIM:300500]
synonym: "Nettleship-Falls syndrome" EXACT [NCIT:C118785]
synonym: "Nettleship-Falls type ocular albinism" RELATED [OMIM:300500]
synonym: "OA1" EXACT [MONDO:Lexical, OMIM:300500, Orphanet:54]
synonym: "ocular albinism type 1" EXACT [Orphanet:54]
synonym: "ocular albinism, Nettleship-Falls type" EXACT [Orphanet:54]
synonym: "X-linked ocular albinism" RELATED [GARD:0008471]
synonym: "XLOA" EXACT [Orphanet:54]
xref: GARD:0008471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"}
xref: ICD10:E70.3 {source="MONDO:subClassOf", source="ORDO:54/attributed", source="ORDO:54/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537863 {source="Orphanet:54", source="ORDO:54/e", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C118785 {source="MONDO:equivalentTo"}
xref: OMIM:300500 {source="Orphanet:54", source="ORDO:54/e", source="MONDO:equivalentTo"}
xref: Orphanet:54 {source="MONDO:equivalentTo", source="OMIM:300500"}
xref: SCTID:78642008 {source="MONDO:kboom-pr-1.00/0.81/10.50", source="MONDO:equivalentTo"}
xref: UMLS:C0342684 {source="Orphanet:54", source="ORDO:54/e", source="NCBI:mim2gene_medline", source="NCIT:C118785", source="MONDO:equivalentTo", source="OMIM:300500"}
is_a: MONDO:0017304 {source="MESH:C537863", source="MONDO:Redundant", source="Orphanet:54", source="linkedlifedata"} ! ocular albinism (disease)
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: exactMatch http://identifiers.org/mesh/C537863
property_value: exactMatch http://identifiers.org/omim/300500
property_value: exactMatch http://identifiers.org/snomedct/78642008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342684
property_value: exactMatch NCIT:C118785
property_value: exactMatch Orphanet:54

[Term]
id: MONDO:0021020
name: Crigler-Najjar syndrome type 1
def: "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." [Orphanet:79234]
subset: gard_rare {source="GARD:0000047"}
subset: ordo_clinical_subtype {source="Orphanet:79234"}
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [Orphanet:79234]
synonym: "bilirubin-UGT deficiency type 1" EXACT [Orphanet:79234]
synonym: "Crigler Najjar syndrome, type 1" RELATED [GARD:0000047]
synonym: "Crigler-Najjar syndrome, type 1" EXACT [OMIM:218800]
synonym: "Crigler-Najjar syndrome, type I" EXACT [OMIM:218800]
synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:79234]
synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800]
synonym: "UGT deficiency type 1" EXACT [Orphanet:79234]
xref: GARD:0000047 {source="MONDO:equivalentTo"}
xref: ICD10:E80.5 {source="MONDO:subClassOf", source="ORDO:79234/attributed", source="ORDO:79234/ntbt", source="Orphanet:205", source="DOID:3803", source="Orphanet:79234"}
xref: MedDRA:10057034 {source="ORDO:79234/e", source="Orphanet:79234"}
xref: OMIM:218800 {source="Orphanet:205", source="MONDO:equivalentTo", source="DOID:3803", source="ORDO:79234/e", source="Orphanet:79234"}
xref: Orphanet:79234 {source="MONDO:equivalentTo", source="OMIM:218800"}
xref: SCTID:8933000 {source="MONDO:kboom-pr-0.68/0.33/0.15", source="MONDO:equivalentTo"}
is_a: MONDO:0009044 {source="MONDOLEX:0021020", source="Orphanet:79234", source="linkedlifedata"} ! Crigler-Najjar syndrome
property_value: exactMatch http://identifiers.org/meddra/10057034
property_value: exactMatch http://identifiers.org/mesh/C536212
property_value: exactMatch http://identifiers.org/omim/218800
property_value: exactMatch http://identifiers.org/snomedct/8933000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931131
property_value: exactMatch Orphanet:79234
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 xsd:anyURI {source="GARD:0000047"}

[Term]
id: MONDO:0021021
name: craniodiaphyseal dysplasia, autosomal dominant
synonym: "CDD" RELATED [MONDO:Lexical, OMIM:122860]
synonym: "craniodiaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:122860]
synonym: "craniodiaphyseal dysplasia, autosomal dominant; CDD" EXACT [OMIM:122860]
synonym: "craniodiaphyseal dysplasia, dominant" RELATED [GARD:0000249]
synonym: "dominantly inherited craniodiaphyseal dysplasia" RELATED [GARD:0000249]
synonym: "Schaefer Stein Oshman syndrome" RELATED [GARD:0000249]
xref: GARD:0000249 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567275 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIM:122860 {source="MONDO:equivalentTo", source="Orphanet:1513"}
is_a: MONDO:0015465 ! craniometaphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675746
property_value: exactMatch http://identifiers.org/mesh/C567275
property_value: exactMatch http://identifiers.org/omim/122860

[Term]
id: MONDO:0021022
name: hereditary hyperekplexia
def: "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." [Orphanet:3197]
subset: ordo_disease {source="Orphanet:3197"}
synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, Orphanet:3197]
synonym: "familial startle disease" EXACT [DOID:0060695, Orphanet:3197]
synonym: "hereditary hyperekplexia" EXACT [DOID:0060695, MONDO:patterns/hereditary]
synonym: "hereditary hyperexplexia" EXACT [Orphanet:3197]
synonym: "hyperekplexia" BROAD [Orphanet:3197]
synonym: "hyperexplexia hereditary" RELATED [GARD:0003129]
synonym: "Kok disease" EXACT [DOID:0060695, Orphanet:3197]
synonym: "startle disease" EXACT [DOID:0060695]
synonym: "Stiff baby syndrome" EXACT [Orphanet:3197]
xref: DOID:0060695 {source="MONDO:equivalentTo"}
xref: GARD:0003129 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:G25.8 {source="DOID:0060695", source="Orphanet:306773", source="ORDO:3197/attributed", source="ORDO:3197/ntbt", source="Orphanet:3197"}
xref: OMIMPS:149400 {source="MONDO:equivalentTo"}
xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"}
xref: SCTID:724351008 {source="MONDO:equivalentTo"}
is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:3197"} ! hyperekplexia
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019058 {source="Orphanet:3197"} ! neurometabolic disease
is_a: MONDO:0019253 {source="Orphanet:3197"} ! metabolic disease involving other neurotransmitter deficiency
intersection_of: MONDO:0017658 ! hyperekplexia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835614
property_value: exactMatch DOID:0060695
property_value: exactMatch http://identifiers.org/snomedct/724351008
property_value: exactMatch Orphanet:3197

[Term]
id: MONDO:0021023
name: complete androgen insensitivity syndrome
def: "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." [Orphanet:99429]
subset: gard_rare {source="GARD:0010597"}
subset: ordo_disease {source="Orphanet:99429"}
synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597]
synonym: "CAIS" EXACT [Orphanet:99429]
synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429]
xref: GARD:0010597 {source="MONDO:equivalentTo"}
xref: ICD10:E34.5 {source="ORDO:99429/attributed", source="ORDO:99429/ntbt"}
xref: ICD10:E34.51 {source="MONDO:equivalentTo"}
xref: NCIT:C120191 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/31.20"}
xref: Orphanet:99429 {source="MONDO:equivalentTo", source="OMIM:300068"}
xref: SCTID:368851000119102 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:CN207337 {source="MONDO:equivalentTo"}
is_a: MONDO:0019154 {source="NCIT:C120191", source="Orphanet:99429", source="linkedlifedata"} ! androgen insensitivity syndrome
property_value: broadMatch http://identifiers.org/omim/300274
property_value: exactMatch http://identifiers.org/snomedct/368851000119102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207337
property_value: exactMatch NCIT:C120191
property_value: exactMatch Orphanet:99429
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome xsd:anyURI {source="GARD:0010597"}

[Term]
id: MONDO:0021024
name: malaria, susceptibility to
subset: predisposition
synonym: "malaria, cerebral, resistance to" EXACT [OMIM:611162]
synonym: "malaria, cerebral, susceptibility to" EXACT [OMIM:611162]
synonym: "malaria, resistance to" EXACT [OMIM:611162]
synonym: "malaria, Severe, resistance to" EXACT [OMIM:611162]
synonym: "malaria, Severe, susceptibility to" EXACT [OMIM:611162]
synonym: "malaria, susceptibility to" EXACT [OMIM:611162]
xref: OMIM:611162 {source="MONDO:equivalentTo", source="Orphanet:673"}
is_a: MONDO:0015979 ! hereditary predisposition to infections
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005136 ! malaria
relationship: predisposes_towards MONDO:0005136 ! malaria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970028
property_value: exactMatch http://identifiers.org/omim/611162

[Term]
id: MONDO:0021025
name: cirrhosis, familial, with antigenemia
synonym: "cirrhosis, familial" RELATED [OMIM:118900]
xref: OMIM:118900 {source="MONDO:equivalentTo"}
is_a: MONDO:0007329 {source="MONDOLEX:0021025"} ! cirrhosis, familial
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861556
property_value: exactMatch http://identifiers.org/omim/118900

[Term]
id: MONDO:0021026
name: genetic epidermal appendage anomaly
def: "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic]
xref: Orphanet:183447 {source="MONDO:0021027", source="MONDO:equivalentTo"}
is_a: MONDO:0019277 {source="MONDO:Redundant", source="MONDO:cjm"} ! epidermal appendage anomaly
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0019277 ! epidermal appendage anomaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:183447

[Term]
id: MONDO:0021027
name: genetic hair anomaly
def: "An instance of hair anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic hair anomaly" EXACT [MONDO:patterns/genetic]
xref: Orphanet:183450 {source="MONDO:0021027", source="MONDO:equivalentTo"}
is_a: MONDO:0019278 ! hair anomaly
is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183450"} ! genetic epidermal appendage anomaly
intersection_of: MONDO:0019278 ! hair anomaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:183450

[Term]
id: MONDO:0021028
name: genetic nail anomaly
def: "An instance of nail anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic nail anomaly" EXACT [MONDO:patterns/genetic]
xref: Orphanet:183454 {source="MONDO:0021028", source="MONDO:equivalentTo"}
is_a: MONDO:0019283 ! nail anomaly
is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183454"} ! genetic epidermal appendage anomaly
intersection_of: MONDO:0019283 ! nail anomaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:183454

[Term]
id: MONDO:0021029
name: genetic sebaceous gland anomaly
def: "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic]
xref: Orphanet:183460 {source="MONDO:0021029", source="MONDO:equivalentTo"}
is_a: MONDO:0019286 ! sebaceous gland anomaly
is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183460"} ! genetic epidermal appendage anomaly
intersection_of: MONDO:0019286 ! sebaceous gland anomaly
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:183460

[Term]
id: MONDO:0021032
name: herpes zoster with dermatitis of eyelid
def: "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." [NCIT:C34696]
synonym: "Herpes Zoster Dermatitis of Eyelid" RELATED [NCIT:C34696]
synonym: "herpes zoster dermatitis of eyelid" EXACT [NCIT:C34696]
synonym: "Herpes zoster dermatitis of eyelids" RELATED [UMLS:C0019362]
synonym: "herpes zoster dermatitis of eyelids" EXACT []
synonym: "Herpes zoster with dermatitis of eyelid" RELATED [UMLS:C0019362]
synonym: "herpes zoster with dermatitis of eyelid" RELATED []
xref: ICD9:053.20 {source="linkedlife"}
xref: NCIT:C34696 {source="MONDO:equivalentTo", source="UMLS:C0019362"}
xref: SCTID:186525007 {source="MONDO:equivalentTo", source="UMLS:C0019362"}
xref: UMLS:C0019362 {source="MONDO:equivalentTo"}
is_a: MONDO:0003382 ! eyelid disease
is_a: MONDO:0020950 ! viral eye infection
is_a: MONDO:0021033 {source="NCIT:C34696"} ! herpes zoster dermatitis
property_value: exactMatch http://identifiers.org/snomedct/186525007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019362
property_value: exactMatch NCIT:C34696

[Term]
id: MONDO:0021033
name: herpes zoster dermatitis
def: "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." [NCIT:C35619]
synonym: "herpes zoster dermatitis" EXACT [NCIT:C35619]
xref: NCIT:C35619 {source="MONDO:equivalentTo"}
is_a: MONDO:0005608 ! varicella zoster infection
is_a: MONDO:0021201 {source="NCIT:C35619"} ! skin infection
property_value: exactMatch NCIT:C35619

[Term]
id: MONDO:0021034
name: genetic alopecia
def: "An instance of alopecia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic alopecia" EXACT [MONDO:patterns/genetic]
xref: Orphanet:481771 {source="MONDO:equivalentTo", source="MONDO:0021034"}
is_a: MONDO:0004907 {source="MONDO:Redundant", source="MONDO:cjm"} ! alopecia
is_a: MONDO:0021027 {source="MONDO:Redundant", source="Orphanet:481771"} ! genetic hair anomaly
intersection_of: MONDO:0004907 ! alopecia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:481771

[Term]
id: MONDO:0021035
name: alopecia-intellectual disability syndrome 1
synonym: "alopecia-mental retardation syndrome 1" EXACT [MONDO:Lexical, OMIM:203650]
synonym: "alopecia-mental retardation syndrome 1; APMR1" EXACT [OMIM:203650]
synonym: "APMR" BROAD [OMIM:203650]
synonym: "APMR1" RELATED [MONDO:Lexical, OMIM:203650]
xref: OMIM:203650 {source="MONDO:equivalentTo"}
xref: UMLS:C1859878 {source="MEDGEN:kboom-pr98-c99", source="OMIM:203650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008756 {source="OMIM:203650"} ! alopecia - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/203650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859878

[Term]
id: MONDO:0021036
name: keratosis pilaris
def: "A form of dry skin characterised by hair follicles plugged by scale." [https://www.dermnetnz.org/topics/keratosis-pilaris/]
synonym: "KP" EXACT [NCIT:C124070]
xref: NCIT:C124070 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.71/1.52"}
xref: SCTID:5132005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
is_a: MONDO:0005093 {source="NCIT:C124070/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263383
property_value: exactMatch http://identifiers.org/snomedct/5132005
property_value: exactMatch NCIT:C124070

[Term]
id: MONDO:0021037
name: genetic neurodegenerative disease with dementia
def: "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "genetic neurodegenerative disease with dementia" EXACT [MONDO:patterns/genetic]
xref: Orphanet:276058 {source="MONDO:0021037", source="MONDO:equivalentTo"}
xref: UMLS:CN202589 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:276058"} ! genetic dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:276058"} ! inherited neurodegenerative disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202589
property_value: exactMatch Orphanet:276058

[Term]
id: MONDO:0021038
name: Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27291]
synonym: "EFTs" EXACT [NCIT:C27291]
synonym: "Ewing family of tumors" EXACT [https://en.wikipedia.org/wiki/Ewing_family_of_tumors, NCIT:C27291]
synonym: "Ewing sarcoma family of tumors" EXACT [NCIT:C27291]
synonym: "Ewing sarcoma/peripheral PNET" EXACT [NCIT:C27291]
synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291]
synonym: "Ewing's family of tumors" EXACT [NCIT:C27291]
synonym: "Ewing's family of tumours" EXACT [NCIT:C27291]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291]
synonym: "tumors of Ewing's family" EXACT [NCIT:C27291]
synonym: "tumors of the Ewing's family" EXACT [NCIT:C27291]
xref: NCIT:C27291 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: UMLS:C3536893 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005564 {source="NCIT:C27291"} ! embryonal neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3536893
property_value: exactMatch NCIT:C27291

[Term]
id: MONDO:0021039
name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27293]
synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
synonym: "extraosseous Ewing's tumor" EXACT [DOID:4985, NCIT:C7135]
synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [MONDO:0003230]
synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
xref: DOID:4985 {source="MONDO:equivalentTo"}
xref: EFO:1000250 {source="MONDO:equivalentTo"}
xref: NCIT:C27293 {source="EFO:1000250", source="MONDO:equivalentTo"}
xref: UMLS:C1333514 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27293"}
is_a: MONDO:0021038 {source="NCIT:C27293"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: exactMatch DOID:4985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333514
property_value: exactMatch NCIT:C27293

[Term]
id: MONDO:0021040
name: pancreatic neoplasm
def: "A benign or malignant neoplasm involving the pancreas." [NCIT:C3305]
synonym: "neoplasm of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "neoplasm of the pancreas" EXACT [NCIT:C3305]
synonym: "pancreas" RELATED [ONCOTREE:PANCREAS]
synonym: "pancreas neoplasm" EXACT [NCIT:C3305]
synonym: "pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "pancreatic neoplasm" EXACT [NCIT:C3305]
synonym: "pancreatic tumor" EXACT [NCIT:C3305]
synonym: "tumor of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "tumor of the pancreas" EXACT [NCIT:C3305]
xref: EFO:0003860 {source="MONDO:equivalentTo"}
xref: MESH:D010190 {source="MONDO:equivalentTo"}
xref: NCIT:C3305 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PANCREAS {source="MONDO:equivalentTo"}
xref: SCTID:126859007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002356 ! pancreas disease
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030274
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030297
property_value: closeMatch NCIT:C12393
property_value: exactMatch http://identifiers.org/mesh/D010190
property_value: exactMatch http://identifiers.org/snomedct/126859007
property_value: exactMatch NCIT:C3305

[Term]
id: MONDO:0021041
name: pleural solitary fibrous tumor
def: "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." [NCIT:C4457]
synonym: "fibroma of pleura" EXACT [NCIT:C4457]
synonym: "fibroma of the pleura" EXACT [NCIT:C4457]
synonym: "localized fibrous mesothelioma of pleura" EXACT [NCIT:C4457]
synonym: "localized fibrous mesothelioma of the pleura" EXACT [NCIT:C4457]
synonym: "pleura solitary fibrous tumor" EXACT [MONDO:patterns/location]
synonym: "pleural cavity solitary fibrous tumor" EXACT [MONDO:patterns/location]
synonym: "pleural fibroma" EXACT [NCIT:C4457]
synonym: "pleural solitary fibrous tumor" EXACT [NCIT:C4457]
synonym: "pleural Submesothelial fibroma" EXACT [NCIT:C4457]
synonym: "solitary fibrous tumor of pleura" EXACT [NCIT:C4457]
synonym: "solitary fibrous tumor of the pleura" EXACT [NCIT:C4457]
xref: EFO:1000835 {source="MONDO:equivalentTo"}
xref: NCIT:C4457 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:254646001 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0016238 {source="MONDO:Redundant", source="MONDOLEX:0021041", source="NCIT:C4457"} ! solitary fibrous tumor
is_a: MONDO:0021065 {source="MONDO:Redundant", source="MONDOLEX:0021041", source="NCIT:C4457", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254646001
property_value: exactMatch NCIT:C4457

[Term]
id: MONDO:0021042
name: glioma
def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059]
synonym: "glial neoplasm" EXACT [NCIT:C3059]
synonym: "glial tumor" EXACT [NCIT:C3059]
synonym: "glioma" EXACT [NCIT:C3059]
synonym: "neoplasm of neuroglia" EXACT [NCIT:C3059]
synonym: "neoplasm of the neuroglia" EXACT [NCIT:C3059]
synonym: "neuroglial neoplasm" EXACT [NCIT:C3059]
synonym: "neuroglial tumor" EXACT [NCIT:C3059]
synonym: "tumor of neuroglia" EXACT [NCIT:C3059]
synonym: "tumor of the neuroglia" EXACT [NCIT:C3059]
xref: GARD:0006513 {source="MONDO:equivalentTo"}
xref: MESH:D005910 {source="MONDO:equivalentTo"}
xref: NCIT:C3059 {source="MONDO:equivalentTo"}
xref: SCTID:393564001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.67/2.17"}
xref: UMLS:C0017638 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3059"}
is_a: MONDO:0021193 {source="MESH:D005910", source="NCIT:C3059"} ! neuroepithelial neoplasm
property_value: exactMatch http://identifiers.org/mesh/D005910
property_value: exactMatch http://identifiers.org/snomedct/393564001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017638
property_value: exactMatch NCIT:C3059

[Term]
id: MONDO:0021043
name: mixed neoplasm
def: "A neoplasm composed of at least two distinct cellular populations." [NCIT:C6930]
synonym: "mixed neoplasm" EXACT [NCIT:C6930]
synonym: "mixed tumor" EXACT [NCIT:C6930]
xref: ICDO:8940/1 {source="NCIT:C6930"}
xref: MESH:D018193 {source="MONDO:equivalentTo"}
xref: NCIT:C6930 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MESH:D018193/inferred", source="MONDOLEX:0021043", source="NCIT:C6930/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368354
property_value: exactMatch http://identifiers.org/mesh/D018193
property_value: exactMatch NCIT:C6930

[Term]
id: MONDO:0021044
name: obsolete Wilms tumor
def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267]
is_obsolete: true
replaced_by: MONDO:0006058

[Term]
id: MONDO:0021045
name: fibroepithelial neoplasm
def: "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." [NCIT:C3743]
synonym: "fibroepithelial neoplasm" EXACT [MONDO:0005760, NCIT:C3743]
synonym: "fibroepithelial tumor" EXACT [NCIT:C3743]
xref: EFO:0007271 {source="MONDO:equivalentTo"}
xref: MESH:D018225 {source="MONDO:equivalentTo", source="EFO:0007271", source="MONDO:ontobio"}
xref: NCIT:C3743 {source="MONDO:equivalentTo"}
xref: UMLS:C0206649 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3743"}
is_a: MONDO:0021043 {source="NCIT:C3743"} ! mixed neoplasm
property_value: closeMatch DOID:153
property_value: exactMatch http://identifiers.org/mesh/D018225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206649
property_value: exactMatch NCIT:C3743

[Term]
id: MONDO:0021046
name: breast fibroepithelial neoplasm
def: "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor." [NCIT:C40405]
synonym: "BFN" RELATED [ONCOTREE:BFN]
synonym: "breast fibroepithelial neoplasm" EXACT [MONDO:patterns/location, NCIT:C40405]
synonym: "breast fibroepithelial neoplasms" RELATED [ONCOTREE:BFN]
synonym: "breast fibroepithelial tumor" EXACT [NCIT:C40405]
xref: NCIT:C40405 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:BFN {source="MONDO:equivalentTo"}
xref: UMLS:C1511309 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40405", source="MONDO:equivalentTo"}
is_a: MONDO:0021045 {source="MONDO:Redundant", source="NCIT:C40405"} ! fibroepithelial neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40405", source="ONCOTREE:BFN", source="OWLReasoner:2017"} ! breast neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511309
property_value: exactMatch NCIT:C40405

[Term]
id: MONDO:0021047
name: breast phyllodes tumor
def: "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component." [NCIT:C7575]
synonym: "breast cystosarcoma phyllodes" EXACT [NCIT:C7575]
synonym: "breast phyllodes neoplasm" EXACT [NCIT:C7575]
synonym: "breast phyllodes tumor" EXACT [MONDO:patterns/location, NCIT:C7575]
synonym: "cystosarcoma phyllodes of breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phyllodes of the breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phylloides - breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phylloides of the breast" EXACT [NCIT:C7575]
synonym: "phyllodes breast neoplasm" EXACT [NCIT:C7575]
synonym: "phyllodes breast tumor" EXACT [NCIT:C7575]
synonym: "phyllodes neoplasm of breast" EXACT [NCIT:C7575]
synonym: "phyllodes neoplasm of the breast" EXACT [NCIT:C7575]
synonym: "phyllodes tumor of breast" EXACT [NCIT:C7575]
synonym: "phyllodes tumor of the breast" EXACT [NCIT:C7575]
xref: GARD:0009514 {source="MONDO:equivalentTo"}
xref: NCIT:C7575 {source="DesignPattern", source="MONDO:equivalentTo", source="exact-label-match"}
xref: ONCOTREE:PT {source="MONDO:equivalentTo"}
xref: SCTID:712989008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C7575"} ! phyllodes tumor
is_a: MONDO:0021046 {source="MONDO:Redundant", source="NCIT:C7575", source="ONCOTREE:PT"} ! breast fibroepithelial neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238031
property_value: exactMatch http://identifiers.org/snomedct/712989008
property_value: exactMatch NCIT:C7575

[Term]
id: MONDO:0021048
name: benign mastocytoma
def: "A localized mast cell neoplasm without metastatic potential." [NCIT:C3217]
synonym: "benign mastocytoma" EXACT [NCIT:C3217]
synonym: "MAST cell tumor, benign" EXACT [NCIT:C3217]
synonym: "mastocytoma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:4658 {source="MONDO:equivalentTo"}
xref: ICD10:D47.0 {source="DOID:4658"}
xref: NCIT:C3217 {source="MONDO:equivalentTo", source="exact-label-match"}
xref: UMLS:C2242987 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3217"}
is_a: MONDO:0003079 {source="MONDO:Redundant", source="NCIT:C3217"} ! mastocytoma
is_a: MONDO:0005165 ! benign neoplasm
property_value: closeMatch http://identifiers.org/snomedct/134333006
property_value: closeMatch http://identifiers.org/snomedct/189506005
property_value: closeMatch http://identifiers.org/snomedct/190020000
property_value: closeMatch http://identifiers.org/snomedct/89796001
property_value: exactMatch DOID:4658
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242987
property_value: exactMatch NCIT:C3217

[Term]
id: MONDO:0021049
name: vulvar neoplasm
def: "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma." [NCIT:C3443]
synonym: "mammalian vulva neoplasm" EXACT []
synonym: "mammalian vulva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mammalian vulva tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of mammalian vulva" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the vulva" EXACT [NCIT:C3443]
synonym: "neoplasm of vulva" EXACT [NCIT:C3443]
synonym: "tumor of mammalian vulva" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the vulva" EXACT [NCIT:C3443]
synonym: "tumor of vulva" EXACT [NCIT:C3443]
synonym: "vulva neoplasm" EXACT [NCIT:C3443]
synonym: "vulva tumor" EXACT [NCIT:C3443]
synonym: "vulval neoplasm" EXACT [CSP2005:2016-2183, DOID:1245]
synonym: "vulvar neoplasm" EXACT [DOID:1245, NCIT:C3443]
synonym: "vulvar tumor" EXACT [DOID:1245, NCIT:C3443]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3443 {source="MONDO:equivalentTo"}
xref: SCTID:126922007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002187 {source="NCIT:C3443", source="linkedlifedata"} ! vulvar disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3443", source="OWLReasoner:2017"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042995
property_value: exactMatch http://identifiers.org/snomedct/126922007
property_value: exactMatch NCIT:C3443

[Term]
id: MONDO:0021050
name: vaginal neoplasm
def: "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." [NCIT:C3437]
comment: Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva
synonym: "neoplasm of the vagina" EXACT [NCIT:C3437]
synonym: "neoplasm of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "tumor of the vagina" EXACT [NCIT:C3437]
synonym: "tumor of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "vagina neoplasm" EXACT [NCIT:C3437]
synonym: "vagina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vagina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "vaginal neoplasm" EXACT [NCIT:C3437]
synonym: "vaginal tumor" EXACT [NCIT:C3437]
xref: EFO:1001447 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3437 {source="MONDO:equivalentTo"}
xref: ONCOTREE:VULVA {source="MONDO:relatedTo"}
xref: SCTID:126921000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
is_a: MONDO:0001433 {source="MONDO:Redundant", source="NCIT:C3437", source="OWLReasoner:2017", source="linkedlifedata"} ! vaginal disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3437", source="OWLReasoner:2017"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042258
property_value: exactMatch http://identifiers.org/snomedct/126921000
property_value: exactMatch NCIT:C3437

[Term]
id: MONDO:0021051
name: obsolete hemophagocytic syndrome
is_obsolete: true
replaced_by: MONDO:0015540

[Term]
id: MONDO:0021052
name: parasympathetic paraganglioma
def: "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." [NCIT:C4217]
synonym: "paraganglioma of parasympathetic nervous system" EXACT [MONDO:design_pattern]
synonym: "parasympathetic Extra-adrenal paraganglioma" EXACT [NCIT:C4217]
synonym: "parasympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location]
synonym: "parasympathetic paraganglioma" EXACT [NCIT:C4217]
synonym: "parasympathetic Paraganglionic neoplasm" EXACT [NCIT:C4217]
xref: ICDO:8682/1 {source="NCIT:C4217"}
xref: NCIT:C4217 {source="MONDO:equivalentTo"}
xref: UMLS:C0334416 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4217"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C4217/inferred", source="OWLReasoner:2017"} ! paraganglioma
is_a: MONDO:0044995 ! parasympathetic nervous system disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334416
property_value: exactMatch NCIT:C4217

[Term]
id: MONDO:0021053
name: carotid body paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." [NCIT:C2932]
synonym: "carotid body chemodectoma" RELATED [NCIT:C2932]
synonym: "carotid body paraganglioma" EXACT [MONDO:patterns/location, NCIT:C2932]
synonym: "carotid body tumor" RELATED [NCIT:C2932]
synonym: "chemodectoma" RELATED [NCIT:C2932]
synonym: "chemodectoma, undetermined" RELATED [NCIT:C2932]
synonym: "paraganglioma of carotid body" EXACT []
synonym: "paraganglioma of carotid body" RELATED [NCIT:C2932]
synonym: "paraganglioma of the carotid body" RELATED [NCIT:C2932]
synonym: "tumor of carotid body" RELATED [NCIT:C2932]
synonym: "tumor of the carotid body" RELATED [NCIT:C2932]
xref: GARD:0010598 {source="MONDO:equivalentTo"}
xref: ICDO:8692/1 {source="NCIT:C2932"}
xref: NCIT:C2932 {source="MONDO:equivalentTo"}
xref: UMLS:C0007279 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2932"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0006239 {source="NCIT:C2932"} ! head and neck paraganglioma
is_a: MONDO:0021052 {source="NCIT:C2932"} ! parasympathetic paraganglioma
is_a: MONDO:0021080 ! blood vessel neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007279
property_value: exactMatch NCIT:C2932

[Term]
id: MONDO:0021054
name: bone sarcoma
def: "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." [NCIT:C9312]
subset: ordo_group_of_disorders {source="Orphanet:223727"}
synonym: "bone sarcoma" EXACT [MONDO:0016388, NCIT:C9312]
synonym: "osseous sarcoma" EXACT [NCIT:C9312]
synonym: "sarcoma of bone" EXACT [NCIT:C9312]
synonym: "sarcoma of the bone" EXACT [NCIT:C9312]
synonym: "skeletal sarcoma" EXACT [NCIT:C9312]
xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10006007 {source="Orphanet:223727", source="ORDO:223727/e"}
xref: NCIT:C9312 {source="MONDO:equivalentTo"}
xref: Orphanet:223727 {source="MONDO:equivalentTo"}
xref: SCTID:448710000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C1704327 {source="NCIT:C9312", source="MONDO:equivalentTo", source="Orphanet:223727", source="ORDO:223727/e"}
is_a: MONDO:0002129 {source="MONDO:Redundant", source="NCIT:C9312", source="linkedlifedata"} ! bone cancer
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C9312", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma
property_value: exactMatch http://identifiers.org/meddra/10006007
property_value: exactMatch http://identifiers.org/snomedct/448710000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1704327
property_value: exactMatch NCIT:C9312
property_value: exactMatch Orphanet:223727

[Term]
id: MONDO:0021055
name: classic familial adenomatous polyposis
def: "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." [Orphanet:733]
subset: ordo_disease {source="Orphanet:733"}
synonym: "adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "adenomatous polyposis of the colon" EXACT [DOID:0050424]
synonym: "APC - adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "classic FAP" EXACT [MONDO:cjm]
synonym: "colorectal adenomatous polyposis" EXACT [Orphanet:733]
synonym: "familial adenomatous polyposis" EXACT [NCIT:C3339]
synonym: "familial adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "familial adenomatous polyposis of the colon" RELATED [GARD:0006408]
synonym: "familial adenomatous polyposis syndrome" EXACT [NCIT:C3339]
synonym: "familial multiple polyposis" RELATED [GARD:0006408]
synonym: "familial polyposis" EXACT [NCIT:C3339]
synonym: "familial polyposis coli" EXACT [Orphanet:733]
synonym: "FAP" EXACT [NCIT:C3339, Orphanet:733]
synonym: "FPC" RELATED [GARD:0006408]
synonym: "hereditary adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "hereditary polyposis coli" RELATED [GARD:0006408]
synonym: "polyposis coli" EXACT [NCIT:C3339]
xref: DC:0000707 {source="MONDO:equivalentTo"}
xref: DOID:0050424 {source="MONDO:equivalentTo"}
xref: GARD:0006408 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:D12.6 {source="Orphanet:733", source="ORDO:733/attributed", source="ORDO:733/ntbt"}
xref: ICDO:8220/0 {source="NCIT:C3339"}
xref: MedDRA:10056981 {source="ORDO:733/e", source="Orphanet:733"}
xref: NCIT:C3339 {source="MONDO:equivalentTo", source="DOID:0050424"}
xref: OMIMPS:175100 {source="DC:0000707", source="MONDO:equivalentTo"}
xref: Orphanet:733 {source="MONDO:equivalentTo"}
xref: SCTID:72900001 {source="MONDO:kboom-pr-1.00/0.80/9.49", source="MONDO:equivalentTo", source="DOID:0050424"}
xref: UMLS:C0032580 {source="ORDO:733/e", source="Orphanet:733", source="MONDO:equivalentTo", source="DOID:0050424", source="NCIT:C3339"}
xref: UMLS:CN240755 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0021057 {source="MONDO:cjm"} ! classic or attenuated familial adenomatous polyposis
property_value: closeMatch http://identifiers.org/snomedct/154609001
property_value: closeMatch http://identifiers.org/snomedct/188828009
property_value: closeMatch http://identifiers.org/snomedct/269636003
property_value: closeMatch http://identifiers.org/snomedct/423471004
property_value: closeMatch http://identifiers.org/snomedct/70921007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713442
property_value: exactMatch DOID:0050424
property_value: exactMatch http://identifiers.org/meddra/10056981
property_value: exactMatch http://identifiers.org/mesh/D011125
property_value: exactMatch http://identifiers.org/snomedct/72900001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032580
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240755
property_value: exactMatch NCIT:C3339
property_value: exactMatch Orphanet:733

[Term]
id: MONDO:0021056
name: familial adenomatous polyposis 1
def: "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." [MONDO:patterns/disease_series_by_gene]
synonym: "adenomatous polyposis coli, attenuated" RELATED [OMIM:175100]
synonym: "adenomatous polyposis of the colon" RELATED [OMIM:175100]
synonym: "APC attenuated familial adenomatous polyposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "attenuated familial adenomatous polyposis caused by mutation in APC" EXACT [MONDO:design_pattern]
synonym: "brain tumor-polyposis syndrome 2" RELATED [OMIM:175100]
synonym: "familial adenomatous polyposis 1" EXACT [MONDO:Lexical, OMIM:175100]
synonym: "familial adenomatous polyposis 1; FAP1" EXACT [OMIM:175100]
synonym: "familial adenomatous polyposis, attenuated" RELATED [OMIM:175100]
synonym: "familial polyposis of the colon" RELATED [OMIM:175100]
synonym: "FAP1" RELATED [MONDO:Lexical, OMIM:175100]
synonym: "Gardner syndrome" RELATED [OMIM:175100]
synonym: "polyposis, adenomatous intestinal" RELATED [OMIM:175100]
xref: OMIM:175100 {source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="MONDO:Redundant", source="ORDO:220460/btnt"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="DC-OMIM:175100", source="OMIM:175100"} ! classic familial adenomatous polyposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162832
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673218
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2713442
property_value: exactMatch http://identifiers.org/omim/175100

[Term]
id: MONDO:0021057
name: classic or attenuated familial adenomatous polyposis
def: "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." [MONDO:cjm]
synonym: "classic or attenuated FAP" EXACT []
is_a: MONDO:0015185 {source="Orphanet:220460"} ! intestinal polyposis syndrome
is_a: MONDO:0017128 {source="MONDO:Redundant", source="Orphanet:220460"} ! inherited digestive tract tumor
is_a: MONDO:0018188 {source="Orphanet:220460"} ! genetic intestinal polyposis
is_a: MONDO:0021118 ! intestinal neoplasm

[Term]
id: MONDO:0021058
name: neoplastic syndrome
def: "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." [NCIT:C54705]
synonym: "cancer-related syndrome" EXACT [NCIT:C54705]
synonym: "neoplastic syndrome" EXACT [NCIT:C54705]
synonym: "tumor syndrome" EXACT [NCIT:C54705]
xref: NCIT:C54705 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDOLEX:0021058", source="NCIT:C54705"} ! syndromic disease
is_a: MONDO:0023370 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! neoplastic disease or syndrome
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_major_feature MONDO:0005070 ! neoplasm (disease)
relationship: disease_has_major_feature MONDO:0005070 ! neoplasm (disease)
relationship: has_modifier MONDO:0021136 {source="MONDO:0016645"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1882062
property_value: exactMatch NCIT:C54705

[Term]
id: MONDO:0021059
name: head or neck disease/disorder
def: "Any disease or disorder affecting the head and/or neck region." [MONDO:cjm]
synonym: "craniocervical region disease" EXACT [MONDO:patterns/location]
synonym: "craniocervical region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of craniocervical region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of craniocervical region" EXACT []
synonym: "disorder of craniocervical region" EXACT [MONDO:patterns/location_top]
synonym: "disorder of craniocervical region" RELATED [MONDO:patterns/location_top]
synonym: "head and neck disorder" EXACT [NCIT:C27571]
synonym: "head or neck disorder" EXACT []
xref: NCIT:C27571 {source="MONDO:equivalentTo"}
xref: UMLS:C1333941 {source="NCIT:C27571", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass"} ! disorder by anatomical region
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333941
property_value: exactMatch NCIT:C27571

[Term]
id: MONDO:0021060
name: RASopathy
def: "The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [https://en.wikipedia.org/wiki/RASopathy]
subset: ordo_group_of_disorders
synonym: "disorder of Ras protein signal transduction" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of Ras protein signal transduction" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern]
xref: EFO:1001502 {source="MONDO:equivalentTo"}
xref: Orphanet:536391 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/606"}
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch Orphanet:536391

[Term]
id: MONDO:0021061
name: neurofibromatosis
def: "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." [https://en.wikipedia.org/wiki/Neurofibromatosis, MONDO:cjm, NCIT:C6727]
synonym: "acoustic neurofibromatosis" EXACT [DOID:8712]
synonym: "central Neurofibromatosis" EXACT [DOID:8712]
synonym: "neurofibromatosis" EXACT [NCIT:C6727]
synonym: "Neurofibromatosis 1" EXACT [DOID:8712]
synonym: "neurofibromatosis syndrome" EXACT [NCIT:C6727]
synonym: "neurofibromatosis type 1" EXACT EXCLUDE [DOID:8712]
synonym: "neurofibromatosis type 2" EXACT [DOID:8712]
synonym: "neurofibromatosis type 4" EXACT [DOID:8712]
synonym: "neurofibromatosis type IV" EXACT [DOID:8712]
synonym: "peripheral Neurofibromatosis" EXACT [DOID:8712]
synonym: "Recklinghausen's neurofibromatosis" EXACT [DOID:8712]
synonym: "type IV neurofibromatosis of riccardi" EXACT [DOID:8712]
synonym: "von Reklinghausen disease" EXACT [DOID:8712]
xref: COHD:376938 {source="MONDO:equivalentTo"}
xref: DOID:8712 {source="MONDO:equivalentTo"}
xref: GARD:0010420 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: ICD10:Q85.00 {source="DOID:8712"}
xref: ICD10:Q85.01 {source="DOID:8712"}
xref: ICD10:Q85.02 {source="DOID:8712", source="MONDO:superClassOf"}
xref: ICD9:237.7 {source="DOID:8712"}
xref: ICD9:237.70 {source="DOID:8712", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:237.71 {source="DOID:8712", source="MONDO:superClassOf"}
xref: ICD9:237.72 {source="DOID:8712", source="MONDO:superClassOf"}
xref: ICDO:9540/1 {source="NCIT:C6727"}
xref: MESH:D017253 {source="MONDO:equivalentTo"}
xref: NCIT:C6727 {source="MONDO:equivalentTo"}
xref: SCTID:19133005 {source="DOID:8712", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0162678 {source="DOID:8712", source="MONDO:equivalentTo", source="NCIT:C6727"}
is_a: MONDO:0000426 {source="DOID:8712", source="https://en.wikipedia.org/wiki/Neurofibromatosis"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D017253", source="NCIT:C6727/inferred", source="NCIT:C84348", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016756 {source="https://en.wikipedia.org/wiki/Neurofibromatosis"} ! inherited nervous system cancer-predisposing syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0042983 {source="MESH:D017253", source="NCIT:C6727", source="https://www.hopkinsmedicine.org", source="linkedlifedata"} ! neurocutaneous syndrome
property_value: closeMatch http://identifiers.org/snomedct/154642000
property_value: closeMatch http://identifiers.org/snomedct/700060008
property_value: closeMatch http://identifiers.org/snomedct/700061007
property_value: closeMatch http://identifiers.org/snomedct/81669005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220695
property_value: exactMatch DOID:8712
property_value: exactMatch http://identifiers.org/mesh/D017253
property_value: exactMatch http://identifiers.org/snomedct/19133005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162678
property_value: exactMatch NCIT:C6727

[Term]
id: MONDO:0021062
name: obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary
subset: ordo_disease {source="Orphanet:306539"}
xref: Orphanet:306539 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN203514 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/omim/173650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN203514
property_value: exactMatch Orphanet:306539
is_obsolete: true
replaced_by: MONDO:0016382

[Term]
id: MONDO:0021063
name: malignant colon neoplasm
def: "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9242]
synonym: "cancer of colon" EXACT [MONDO:patterns/cancer]
synonym: "colon cancer" EXACT [MONDO:patterns/location]
synonym: "colon neoplasm, malignant" EXACT [NCIT:C9242]
synonym: "colon tumor, malignant" EXACT [NCIT:C9242]
synonym: "malignant colon neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9242]
synonym: "malignant colon tumor" EXACT [NCIT:C9242]
synonym: "malignant colonic neoplasm" EXACT [NCIT:C9242]
synonym: "malignant colonic tumor" EXACT [NCIT:C9242]
synonym: "malignant neoplasm of colon" EXACT [MONDO:patterns/cancer, NCIT:C9242]
synonym: "malignant neoplasm of the colon" EXACT [NCIT:C9242]
synonym: "malignant tumor of colon" EXACT [NCIT:C9242]
synonym: "malignant tumor of the colon" EXACT [NCIT:C9242]
xref: COHD:4180790 {source="MONDO:equivalentTo"}
xref: DOID:219 {source="EFO:0004288", source="MONDO:equivalentTo"}
xref: ICD10:C18 {source="DOID:219"}
xref: ICD10:C18.9 {source="DOID:219"}
xref: ICD9:153 {source="DOID:219"}
xref: ICD9:153.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:153.9 {source="DOID:219", source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9242 {source="MONDO:equivalentTo"}
xref: SCTID:363406005 {source="DOID:219", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.08"}
xref: UMLS:C0007102 {source="DOID:219", source="MONDO:equivalentTo", source="NCIT:C9242"}
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C9242"} ! colonic neoplasm
is_a: MONDO:0005575 {source="DOID:219", source="MONDO:Redundant", source="MONDOLEX:0021063", source="NCIT:C9242", source="linkedlifedata"} ! colorectal cancer
property_value: closeMatch http://identifiers.org/snomedct/154463007
property_value: closeMatch http://identifiers.org/snomedct/187759003
property_value: closeMatch http://identifiers.org/snomedct/269461008
property_value: closeMatch http://identifiers.org/snomedct/269542007
property_value: closeMatch http://identifiers.org/snomedct/93761005
property_value: exactMatch DOID:219
property_value: exactMatch http://identifiers.org/snomedct/363406005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007102
property_value: exactMatch NCIT:C9242

[Term]
id: MONDO:0021064
name: jugulotympanic paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." [NCIT:C3061]
subset: gard_rare
synonym: "basicranium parasympathetic paraganglioma" EXACT [MONDO:patterns/location]
synonym: "glomus jugulare neoplasm" EXACT [NCIT:C3061]
synonym: "glomus jugulare tumor" EXACT [NCIT:C3061]
synonym: "Glomus tumor" RELATED [GARD:0010599]
synonym: "jugular paraganglioma" EXACT [NCIT:C3061]
synonym: "jugulotympanic paraganglioma" EXACT [NCIT:C3061]
synonym: "neoplasm of glomus jugulare" EXACT [NCIT:C3061]
synonym: "neoplasm of the glomus jugulare" EXACT [NCIT:C3061]
synonym: "Paraganglioma - glomus jugulare" RELATED [GARD:0010599]
synonym: "parasympathetic paraganglioma of basicranium" EXACT [MONDO:design_pattern]
synonym: "tumor of glomus jugulare" EXACT [NCIT:C3061]
synonym: "tumor of the glomus jugulare" EXACT [NCIT:C3061]
xref: GARD:0010599 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8690/1 {source="NCIT:C3061"}
xref: NCIT:C3061 {source="MONDO:equivalentTo"}
xref: SCTID:127030001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0017671 {source="NCIT:C3061", source="MEDGEN:kboom-pr98-c98", source="GARD:0010599", source="MONDO:equivalentTo"}
is_a: MONDO:0002785 ! skull base neoplasm
is_a: MONDO:0006239 {source="MONDO:Redundant", source="NCIT:C3061"} ! head and neck paraganglioma
is_a: MONDO:0021052 {source="MONDO:Redundant", source="MONDOLEX:0021064", source="NCIT:C3061"} ! parasympathetic paraganglioma
is_a: MONDO:0021257 {source="MONDO:cjm"} ! glomus jugulare neoplasm
is_a: MONDO:0024499 ! vascular bone neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/127030001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017671
property_value: exactMatch NCIT:C3061

[Term]
id: MONDO:0021065
name: pleural neoplasm
def: "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." [NCIT:C3332]
synonym: "neoplasm of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332]
synonym: "neoplasm of pleural cavity" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the pleura" EXACT [NCIT:C3332]
synonym: "pleura neoplasm" EXACT []
synonym: "pleura neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pleura tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "pleural cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pleural cavity tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "pleural neoplasm" EXACT [NCIT:C3332]
synonym: "pleural tumor" EXACT [NCIT:C3332]
synonym: "tumor of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332]
synonym: "tumor of the pleura" EXACT [NCIT:C3332]
xref: NCIT:C3332 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: ONCOTREE:PLEURA {source="MONDO:equivalentTo"}
xref: SCTID:126719004 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:C0032229 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3332"}
is_a: MONDO:0002037 {source="MONDO:Redundant", source="NCIT:C3332", source="linkedlifedata"} ! pleural disease
is_a: MONDO:0020641 ! respiratory tract neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032225
property_value: closeMatch NCIT:C12469
property_value: exactMatch http://identifiers.org/snomedct/126719004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032229
property_value: exactMatch NCIT:C3332

[Term]
id: MONDO:0021066
name: urinary system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" [NCIT:C3431]
comment: Editor note: note the ONCOTREE class is more general than just bladder
synonym: "neoplasm of renal system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the urinary system" EXACT [NCIT:C3431]
synonym: "neoplasm of the urinary tract" EXACT [NCIT:C3431]
synonym: "neoplasm of urinary system" EXACT [NCIT:C3431]
synonym: "neoplasm of urinary tract" EXACT [NCIT:C3431]
synonym: "renal system neoplasm" EXACT []
synonym: "renal system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "renal system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of renal system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the urinary system" EXACT [NCIT:C3431]
synonym: "tumor of the urinary tract" EXACT [NCIT:C3431]
synonym: "tumor of urinary system" EXACT [NCIT:C3431]
synonym: "tumor of urinary tract" EXACT [NCIT:C3431]
synonym: "urinary system neoplasm" EXACT [NCIT:C3431]
synonym: "urinary system tumor" EXACT [NCIT:C3431]
synonym: "urinary tract neoplasm" EXACT [NCIT:C3431]
synonym: "urinary tract tumor" EXACT [NCIT:C3431]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3431 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"}
xref: SCTID:126879004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.87/0.73/0.06"}
is_a: MONDO:0002118 ! urinary system disease
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0021066", source="NCIT:C3431/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042076
property_value: exactMatch http://identifiers.org/snomedct/126879004
property_value: exactMatch NCIT:C3431

[Term]
id: MONDO:0021067
name: mediastinal germ cell tumor
def: "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." [NCIT:C6437]
synonym: "germ cell neoplasm of mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell neoplasm of the mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell tumor of mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell tumor of the mediastinum" EXACT [NCIT:C6437]
synonym: "mediastinal germ cell neoplasm" EXACT [NCIT:C6437]
synonym: "mediastinal germ cell tumor" EXACT [NCIT:C6437]
synonym: "mediastinum germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "thymic germ cell tumor" EXACT [NCIT:C6437]
xref: NCIT:C6437 {source="MONDO:equivalentTo"}
xref: UMLS:C1334655 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6437"}
is_a: MONDO:0018201 {source="NCIT:C6437"} ! extragonadal germ cell tumor
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6437"} ! neoplasm of mediastinum
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334655
property_value: exactMatch NCIT:C6437

[Term]
id: MONDO:0021068
name: ovarian neoplasm
def: "A benign, borderline, or malignant neoplasm involving the ovary." [NCIT:C4984]
synonym: "neoplasm of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984]
synonym: "neoplasm of the ovary" EXACT [NCIT:C4984]
synonym: "ovarian neoplasm" EXACT [NCIT:C4984]
synonym: "ovarian tumor" EXACT [NCIT:C4984]
synonym: "ovarian tumors" EXACT [NCIT:C4984]
synonym: "ovary neoplasm" EXACT []
synonym: "ovary neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ovary tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984]
synonym: "tumor of the ovary" EXACT [NCIT:C4984]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4984 {source="MONDO:equivalentTo"}
xref: SCTID:123843001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.39"}
xref: UMLS:CN236629 {source="MONDO:equivalentTo"}
is_a: MONDO:0005558 {source="MONDO:Redundant", source="NCIT:C4984", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4984", source="OWLReasoner:2017"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0919267
property_value: exactMatch http://identifiers.org/snomedct/123843001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236629
property_value: exactMatch NCIT:C4984

[Term]
id: MONDO:0021069
name: malignant endocrine neoplasm
def: "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." [NCIT:C3575]
synonym: "cancer of endocrine gland" EXACT [MONDO:patterns/cancer]
synonym: "endocrine cancer" EXACT [NCIT:C3575]
synonym: "endocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3575]
synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location]
synonym: "endocrine neoplasm" EXACT [DOID:170]
synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575]
synonym: "Endocrine tumor" EXACT [DOID:170]
synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3575]
synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575]
synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575]
synonym: "malignant endocrine tumor" EXACT [NCIT:C3575]
synonym: "malignant neoplasm of endocrine gland" EXACT [MONDO:patterns/cancer, NCIT:C3575]
synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575]
synonym: "malignant tumor of endocrine gland" EXACT [NCIT:C3575]
synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575]
synonym: "malignant tumour of endocrine gland" EXACT [DOID:170]
synonym: "neoplasm of endocrine gland" EXACT EXCLUDE [DOID:170]
synonym: "neoplasm of endocrine system" EXACT [DOID:170]
xref: DOID:170 {source="MONDO:equivalentTo"}
xref: ICD10:C75.9 {source="DOID:170"}
xref: ICD9:194.9 {source="DOID:170"}
xref: MESH:D004701 {source="DOID:170", source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C3575 {source="DOID:170", source="MONDO:equivalentTo"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="MONDOLEX:0021069", source="NCIT:C3575"} ! endocrine gland neoplasm
is_a: MONDO:0004992 ! cancer
property_value: closeMatch http://identifiers.org/snomedct/127015005
property_value: closeMatch http://identifiers.org/snomedct/190140005
property_value: closeMatch http://identifiers.org/snomedct/363347009
property_value: closeMatch http://identifiers.org/snomedct/371982006
property_value: closeMatch http://identifiers.org/snomedct/387927001
property_value: closeMatch http://identifiers.org/snomedct/93780007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014132
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153658
property_value: exactMatch DOID:170
property_value: exactMatch http://identifiers.org/mesh/D004701
property_value: exactMatch NCIT:C3575

[Term]
id: MONDO:0021070
name: sublingual gland carcinoma
def: "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma." [NCIT:C8397]
synonym: "carcinoma of sublingual gland" EXACT [MONDO:patterns/carcinoma, NCIT:C8397]
synonym: "carcinoma of the sublingual gland" EXACT [NCIT:C8397]
synonym: "sublingual gland cancer" EXACT [NCIT:C8397]
synonym: "sublingual gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C8397]
xref: NCIT:C8397 {source="MONDO:equivalentTo"}
xref: SCTID:254466003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0345611 {source="NCIT:C8397", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004667 {source="MONDO:Redundant", source="MONDOLEX:0021070", source="NCIT:C8397", source="linkedlifedata", source="linkedlifedata/inferred"} ! sublingual gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C8397"} ! major salivary gland carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254466003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345611
property_value: exactMatch NCIT:C8397

[Term]
id: MONDO:0021071
name: laryngeal neoplasm
def: "A benign or malignant neoplasm involving the larynx." [NCIT:C3156]
synonym: "laryngeal neoplasm" EXACT [NCIT:C3156]
synonym: "laryngeal tumor" EXACT [NCIT:C3156]
synonym: "larynx neoplasm" EXACT [NCIT:C3156]
synonym: "larynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "neoplasm of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "neoplasm of the larynx" EXACT [NCIT:C3156]
synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "tumor of the larynx" EXACT [NCIT:C3156]
xref: EFO:0003817 {source="MONDO:equivalentTo"}
xref: MESH:D007822 {source="MONDO:equivalentTo"}
xref: NCIT:C3156 {source="MONDO:equivalentTo"}
xref: SCTID:126692004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.75/3.46"}
xref: UMLS:C0023055 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3156"}
is_a: MONDO:0004382 {source="MESH:D007822", source="MONDO:Redundant", source="NCIT:C3156", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal disease
is_a: MONDO:0020641 ! respiratory tract neoplasm
property_value: exactMatch http://identifiers.org/mesh/D007822
property_value: exactMatch http://identifiers.org/snomedct/126692004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023055
property_value: exactMatch NCIT:C3156

[Term]
id: MONDO:0021072
name: sympathetic paraganglioma
def: "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." [NCIT:C4216]
synonym: "chromaffin neoplasm" EXACT [NCIT:C4216]
synonym: "chromaffin tumor" EXACT [NCIT:C4216]
synonym: "Chromaffinoma" EXACT [NCIT:C4216]
synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_pattern]
synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location]
synonym: "sympathetic paraganglioma" EXACT [NCIT:C4216]
synonym: "sympathetic Paraganglionic neoplasm" EXACT [NCIT:C4216]
xref: ICDO:8681/1 {source="NCIT:C4216"}
xref: MESH:C531777 {source="MONDO:equivalentTo"}
xref: NCIT:C4216 {source="MONDO:equivalentTo"}
xref: SCTID:399343007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/14.39"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C4216"} ! paraganglioma
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C4216/inferred", source="OWLReasoner:2017"} ! epithelial neoplasm
is_a: MONDO:0044993 ! sympathetic nervous system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334415
property_value: exactMatch http://identifiers.org/mesh/C531777
property_value: exactMatch http://identifiers.org/snomedct/399343007
property_value: exactMatch NCIT:C4216

[Term]
id: MONDO:0021073
name: paraneoplastic syndrome
def: "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." [NCIT:C3311]
synonym: "paraneoplastic syndrome" EXACT [NCIT:C3311]
xref: MESH:D010257 {source="MONDO:equivalentTo"}
xref: NCIT:C3311 {source="MONDO:equivalentTo"}
xref: SCTID:49783001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0030472 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3311"}
is_a: MONDO:0002254 {source="MONDOLEX:0021073", source="NCIT:C3311"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/D010257
property_value: exactMatch http://identifiers.org/snomedct/49783001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030472
property_value: exactMatch NCIT:C3311

[Term]
id: MONDO:0021074
name: precancerous condition
def: "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." [NCIT:C3341]
comment: Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome
synonym: "precancerous condition" EXACT [NCIT:C3341]
synonym: "precancerous state" EXACT [NCIT:C3341]
synonym: "premalignant condition" EXACT [NCIT:C3341]
synonym: "premalignant state" EXACT [NCIT:C3341]
xref: MESH:D011230 {source="MONDO:equivalentTo"}
xref: NCIT:C3341 {source="MONDO:equivalentTo"}
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032927
property_value: exactMatch http://identifiers.org/mesh/D011230
property_value: exactMatch NCIT:C3341

[Term]
id: MONDO:0021075
name: neoplastic polyp
synonym: "neoplastic polyp" EXACT [NCIT:C7068]
xref: NCIT:C7068 {source="MONDO:equivalentTo"}
xref: UMLS:C1334941 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7068", source="MONDO:equivalentTo"}
is_a: MONDO:0005079 {source="NCIT:C7068"} ! polyp
is_a: MONDO:0021074 {source="NCIT:C7068"} ! precancerous condition
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334941
property_value: exactMatch NCIT:C7068

[Term]
id: MONDO:0021076
name: pancreatic exocrine neoplasm
def: "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C4445]
synonym: "exocrine pancreas neoplasm" EXACT [NCIT:C4445]
synonym: "exocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "exocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "neoplasm of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "neoplasm of the exocrine pancreas" EXACT [NCIT:C4445]
synonym: "pancreatic exocrine neoplasm" EXACT [NCIT:C4445]
synonym: "pancreatic exocrine tumor" EXACT [NCIT:C4445]
synonym: "tumor of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "tumor of the exocrine pancreas" EXACT [NCIT:C4445]
xref: ICD9:235.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4445 {source="MONDO:equivalentTo"}
xref: SCTID:254604005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.74/0.09"}
xref: UMLS:C0345920 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4445"}
is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4445", source="linkedlifedata"} ! pancreatic neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254604005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345920
property_value: exactMatch NCIT:C4445

[Term]
id: MONDO:0021077
name: cystic neoplasm
def: "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." [NCIT:C6784]
synonym: "cystic neoplasm" EXACT [NCIT:C6784]
synonym: "cystic tumor" EXACT [NCIT:C6784]
xref: NCIT:C6784 {source="MONDO:equivalentTo"}
xref: UMLS:C1333190 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6784", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDOLEX:0021077", source="NCIT:C6784/inferred"} ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333190
property_value: exactMatch NCIT:C6784

[Term]
id: MONDO:0021078
name: glandular papilloma
synonym: "glandular papilloma" EXACT [NCIT:C6880]
xref: NCIT:C6880 {source="MONDO:equivalentTo"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C6880"} ! papilloma
is_a: MONDO:0024276 {source="MONDO:Redundant", source="NCIT:C6880"} ! glandular cell neoplasm
intersection_of: MONDO:0002363 {source="NCIT:C6880"} ! papilloma
intersection_of: MONDO:0024276 {source="NCIT:C6880"} ! glandular cell neoplasm
property_value: exactMatch NCIT:C6880

[Term]
id: MONDO:0021079
name: childhood neoplasm
def: "A benign or malignant neoplasm arising during childhood." [NCIT:C6283]
synonym: "childhood neoplasm" EXACT [NCIT:C6283]
synonym: "childhood neoplasm (disease)" EXACT []
synonym: "childhood tumor" EXACT [NCIT:C6283]
synonym: "neoplasm" BROAD EXCLUDE [NCIT:C6283]
synonym: "neoplasm" EXACT [NCIT:C6283]
synonym: "neoplasm (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric neoplasm" EXACT [NCIT:C6283]
synonym: "pediatric neoplasm (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric neoplasm (disease)" RELATED [MONDO:patterns/childhood]
synonym: "pediatric tumor" EXACT [NCIT:C6283]
xref: NCIT:C6283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0021079", source="NCIT:C6283/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368871
property_value: exactMatch NCIT:C6283

[Term]
id: MONDO:0021080
name: blood vessel neoplasm
def: "A neoplasm arising from arteries or veins." [NCIT:C7387]
synonym: "blood vessel neoplasm" EXACT [NCIT:C7387]
synonym: "blood vessel neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "blood vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7387]
synonym: "neoplasm of blood vessel" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of blood vessel" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C7387 {source="MONDO:equivalentTo"}
xref: SCTID:126736007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 ! vascular disease
is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C7387"} ! vascular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282607
property_value: exactMatch http://identifiers.org/snomedct/126736007
property_value: exactMatch NCIT:C7387

[Term]
id: MONDO:0021081
name: anti-NMDA receptor encephalitis
def: "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." [NCIT:C94853]
synonym: "anti-NMDA receptor encephalitis" EXACT [NCIT:C94853]
xref: MESH:D060426 {source="MONDO:equivalentTo"}
xref: NCIT:C94853 {source="MONDO:equivalentTo"}
is_a: MONDO:0019385 {source="NCIT:C94853"} ! steroid-responsive encephalopathy associated with autoimmune thyroiditis
is_a: MONDO:0021016 ! channelopathy
is_a: MONDO:0044977 ! disease of receptor activity
is_a: MONDO:0044980 ! disease of signal transduction
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2986717
property_value: exactMatch http://identifiers.org/mesh/D060426
property_value: exactMatch NCIT:C94853

[Term]
id: MONDO:0021082
name: Meckel diverticulum neoplasm
def: "A neoplasm involving a Meckel's diverticulum." [MONDO:patterns/neoplasm]
synonym: "Meckel's diverticulum neoplasm" EXACT []
synonym: "Meckel's diverticulum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Meckel's diverticulum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm]
xref: SCTID:126836001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.78"}
xref: UMLS:C0345839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006801 {source="MONDO:Redundant", source="linkedlifedata"} ! ileal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126836001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345839

[Term]
id: MONDO:0021083
name: congenital fibrosis of extraocular muscles type 1
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700]
synonym: "CFEOM1" RELATED [MONDO:Lexical, OMIM:135700]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in KIF21A" EXACT [MONDO:design_pattern]
synonym: "Feom1 locus" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1; CFEOM1" EXACT [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700]
synonym: "KIF21A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700]
xref: OMIM:135700 {source="MONDO:equivalentTo"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:135700", source="Orphanet:45358"} ! congenital fibrosis of extraocular muscles
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851102
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2751105
property_value: exactMatch http://identifiers.org/omim/135700

[Term]
id: MONDO:0021084
name: vision disorder
def: "Any impairment to the vision." [NCIT:C35126]
synonym: "disorder of vision" EXACT []
synonym: "disorder of visual system" BROAD [NCIT:C35126]
synonym: "vision disorder" EXACT [NCIT:C35126]
synonym: "visual disorder" EXACT [NCIT:C35126]
synonym: "visual Field disorder" RELATED [NCIT:C35126]
synonym: "visual system disorder" BROAD [NCIT:C35126]
xref: MESH:D014786 {source="MONDO:equivalentTo"}
xref: NCIT:C35126 {source="MONDO:equivalentTo"}
xref: SCTID:95677002 {source="MONDO:equivalentTo"}
xref: UMLS:C0042790 {source="MONDO:equivalentTo", source="NCIT:C35126"}
is_a: MONDO:0024417 ! perceptual disorders
is_a: MONDO:0024458 ! disease of visual system
property_value: exactMatch http://identifiers.org/mesh/D014786
property_value: exactMatch http://identifiers.org/snomedct/95677002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042790
property_value: exactMatch NCIT:C35126

[Term]
id: MONDO:0021085
name: gastric neoplasm
def: "A benign or malignant neoplasm involving the stomach." [NCIT:C3387]
synonym: "gastric neoplasm" EXACT [NCIT:C3387]
synonym: "gastric tumor" EXACT [NCIT:C3387]
synonym: "neoplasm of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "neoplasm of the stomach" EXACT [NCIT:C3387]
synonym: "stomach neoplasm" EXACT [NCIT:C3387]
synonym: "stomach neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "stomach tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "tumor of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "tumor of the stomach" EXACT [NCIT:C3387]
xref: EFO:0003897 {source="MONDO:equivalentTo"}
xref: MESH:D013274 {source="MONDO:equivalentTo"}
xref: NCIT:C3387 {source="MONDO:equivalentTo"}
xref: SCTID:126824007 {source="MONDO:kboom-pr-0.99/0.92/2.11", source="MONDO:equivalentTo"}
xref: UMLS:C0038356 {source="MONDO:equivalentTo", source="NCIT:C3387"}
is_a: MONDO:0004298 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387", source="OWLReasoner:2017", source="linkedlifedata"} ! stomach disease
is_a: MONDO:0021223 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387"} ! digestive system neoplasm
property_value: exactMatch http://identifiers.org/mesh/D013274
property_value: exactMatch http://identifiers.org/snomedct/126824007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038356
property_value: exactMatch NCIT:C3387

[Term]
id: MONDO:0021086
name: gingival neoplasm
def: "A benign or malignant neoplasm that affects the upper or lower gingiva." [NCIT:C3057]
synonym: "gingiva neoplasm" EXACT []
synonym: "gingiva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gingiva tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "gingival neoplasm" EXACT [NCIT:C3057]
synonym: "gingival tumor" EXACT [NCIT:C3057]
synonym: "gum neoplasm" EXACT [NCIT:C3057]
synonym: "gum tumor" EXACT [NCIT:C3057]
synonym: "neoplasm of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057]
synonym: "neoplasm of gum" EXACT [NCIT:C3057]
synonym: "neoplasm of the gingiva" EXACT [NCIT:C3057]
synonym: "neoplasm of the gum" EXACT [NCIT:C3057]
synonym: "tumor of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057]
synonym: "tumor of gum" EXACT [NCIT:C3057]
synonym: "tumor of the gingiva" EXACT [NCIT:C3057]
synonym: "tumor of the gum" EXACT [NCIT:C3057]
xref: NCIT:C3057 {source="MONDO:equivalentTo"}
xref: SCTID:126792007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"}
xref: UMLS:C0017570 {source="MONDO:equivalentTo", source="NCIT:C3057"}
is_a: MONDO:0002021 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! gingival disease
is_a: MONDO:0021192 ! odontogenic neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126792007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017570
property_value: exactMatch NCIT:C3057

[Term]
id: MONDO:0021087
name: obsolete malignant granular cell myoblastoma
is_obsolete: true
replaced_by: MONDO:0003252

[Term]
id: MONDO:0021088
name: papillary meningioma
def: "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." [NCIT:C3904]
synonym: "papillary meningioma" EXACT [NCIT:C3904]
xref: ICDO:9538/3 {source="NCIT:C3904"}
xref: NCIT:C3904 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PPM {source="MONDO:equivalentTo"}
xref: UMLS:C3163622 {source="NCIT:C3904", source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="MONDOLEX:0021088", source="NCIT:C3904", source="NCIT:C3904/inferred"} ! meningioma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3163622
property_value: exactMatch NCIT:C3904

[Term]
id: MONDO:0021089
name: peripheral nervous system cancer
def: "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" [NCIT:C4961]
synonym: "cancer of peripheral nervous system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of peripheral nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4961]
synonym: "malignant neoplasm of PNS" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the PNS" EXACT [NCIT:C4961]
synonym: "malignant neoplasms, peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant peripheral nerve neoplasm" EXACT [NCIT:C4961]
synonym: "malignant peripheral nerve tumor" EXACT [NCIT:C4961]
synonym: "malignant peripheral nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4961]
synonym: "malignant peripheral nervous system tumor" EXACT [NCIT:C4961]
synonym: "malignant PNS neoplasm" EXACT [NCIT:C4961]
synonym: "malignant PNS tumor" EXACT [NCIT:C4961]
synonym: "malignant tumor of peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant tumor of peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant tumor of PNS" EXACT [NCIT:C4961]
synonym: "malignant tumor of the peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant tumor of the peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant tumor of the PNS" EXACT [NCIT:C4961]
synonym: "peripheral nervous system cancer" EXACT [MONDO:patterns/location]
synonym: "peripheral nervous system neoplasms, malignant" EXACT [NCIT:C4961]
xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4961 {source="MONDO:equivalentTo"}
xref: SCTID:254986007 {source="MONDO:kboom-pr-1.00/0.91/29.27", source="MONDO:equivalentTo"}
xref: UMLS:C0751428 {source="MONDO:equivalentTo", source="NCIT:C4961"}
is_a: MONDO:0001406 {source="MONDO:Redundant", source="MONDOLEX:0021089", source="NCIT:C4961", source="linkedlifedata"} ! peripheral nervous system neoplasm
is_a: MONDO:0005872 {source="MONDO:Redundant", source="MONDOLEX:0021089", source="NCIT:C4961", source="linkedlifedata"} ! nervous system cancer
property_value: exactMatch http://identifiers.org/snomedct/254986007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751428
property_value: exactMatch NCIT:C4961

[Term]
id: MONDO:0021090
name: lipid-rich breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." [NCIT:C40365]
synonym: "breast lipid-rich carcinoma" EXACT [MONDO:patterns/location]
synonym: "lipid secreting breast carcinoma" RELATED [NCIT:C40365]
synonym: "lipid-rich breast carcinoma" EXACT [MONDO:0004097, NCIT:C40365]
xref: DOID:7076 {source="MONDO:equivalentTo"}
xref: NCIT:C40365 {source="MONDO:equivalentTo", source="DOID:7076", source="NCIT:C40365"}
xref: UMLS:C1517894 {source="MONDO:equivalentTo", source="DOID:7076", source="NCIT:C40365"}
is_a: MONDO:0003570 {source="DOID:7076", source="MONDO:Redundant", source="MONDOLEX:0021090", source="NCIT:C40365"} ! lipid-rich carcinoma
is_a: MONDO:0003982 {source="DOID:7076"} ! bilateral breast carcinoma
property_value: exactMatch DOID:7076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517894
property_value: exactMatch NCIT:C40365

[Term]
id: MONDO:0021091
name: papillary cystadenoma
def: "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." [NCIT:C2974]
synonym: "cystadenoma, papillary, benign" EXACT [NCIT:C2974]
synonym: "papillary cystadenoma" EXACT [NCIT:C2974]
xref: ICDO:8450/0 {source="NCIT:C2974"}
xref: MESH:D018292 {source="MONDO:equivalentTo"}
xref: NCIT:C2974 {source="MONDO:equivalentTo"}
xref: UMLS:C0010636 {source="MONDO:equivalentTo", source="NCIT:C2974"}
is_a: MONDO:0002369 {source="MESH:D018292", source="MONDO:Redundant", source="MONDOLEX:0021091", source="NCIT:C2974"} ! cystadenoma
is_a: MONDO:0002533 ! papillary adenoma
is_a: MONDO:0006349 {source="MONDO:Redundant", source="NCIT:C2974"} ! papillary cystic neoplasm
intersection_of: MONDO:0002369 {source="NCIT:C2974"} ! cystadenoma
intersection_of: MONDO:0006349 {source="NCIT:C2974"} ! papillary cystic neoplasm
property_value: exactMatch http://identifiers.org/mesh/D018292
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010636
property_value: exactMatch NCIT:C2974

[Term]
id: MONDO:0021092
name: fallopian tube neoplasm
def: "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." [NCIT:C3032]
synonym: "fallopian tube neoplasm" EXACT [NCIT:C3032]
synonym: "fallopian tube neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "fallopian tube tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "neoplasm of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "neoplasm of the fallopian tube" EXACT [NCIT:C3032]
synonym: "tumor of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "tumor of the fallopian tube" EXACT [NCIT:C3032]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3032 {source="MONDO:equivalentTo"}
xref: SCTID:126916003 {source="MONDO:kboom-pr-0.91/0.75/0.80", source="MONDO:equivalentTo"}
xref: UMLS:C0015558 {source="NCIT:C3032", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0002156 {source="MONDO:Redundant", source="NCIT:C3032", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3032", source="OWLReasoner:2017"} ! female reproductive system neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126916003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015558
property_value: exactMatch NCIT:C3032

[Term]
id: MONDO:0021093
name: cranioectodermal dysplasia 1
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CED1" RELATED [MONDO:Lexical, OMIM:218330]
synonym: "cranioectodermal dysplasia 1" EXACT [MONDO:Lexical, OMIM:218330]
synonym: "cranioectodermal dysplasia 1; CED1" EXACT [OMIM:218330]
synonym: "cranioectodermal dysplasia caused by mutation in IFT122" EXACT [MONDO:design_pattern]
synonym: "cranioectodermal dysplasia type 1" EXACT [MONDORULE:1, OMIM:218330]
synonym: "IFT122 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Levin syndrome 1" RELATED [OMIM:218330]
synonym: "Sensenbrenner syndrome" BROAD [OMIM:218330]
xref: OMIM:218330 {source="MONDO:equivalentTo"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="MONDOLEX:0021093", source="OMIM:218330"} ! cranioectodermal dysplasia
property_value: exactMatch http://identifiers.org/omim/218330

[Term]
id: MONDO:0021094
name: immunodeficiency disease
def: "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." [NCIT:C3131-modified]
synonym: "immuno-deficiency" EXACT [NCIT:C3131]
synonym: "immunodeficiency" EXACT [NCIT:C3131]
synonym: "immunodeficiency disorder" EXACT [NCIT:C3131]
synonym: "immunodeficiency syndrome" RELATED [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18, NCIT:C3131]
xref: COHD:433740 {source="MONDO:equivalentTo"}
xref: ICD9:279.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3131 {source="NCIT:C3131", source="MONDO:equivalentTo"}
xref: OMIMPS:300755 {source="MONDO:equivalentTo"}
xref: SCTID:234532001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.84"}
is_a: MONDO:0005046 {source="NCIT:C3131", source="linkedlifedata"} ! immune system disease
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C3131", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/234532001
property_value: exactMatch NCIT:C3131

[Term]
id: MONDO:0021095
name: parkinsonian disorder
def: "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." [MESH:D020734]
comment: Editor note: TODO
xref: MESH:D020734 {source="MONDO:equivalentTo"}
is_a: MONDO:0003996 {source="MESH:D020734"} ! basal ganglia disease
property_value: exactMatch http://identifiers.org/mesh/D020734

[Term]
id: MONDO:0021096
name: papillary epithelial neoplasm
synonym: "papillary epithelial neoplasm" EXACT [NCIT:C8429]
xref: NCIT:C8429 {source="MONDO:equivalentTo"}
xref: UMLS:C1335324 {source="MONDO:equivalentTo", source="NCIT:C8429"}
is_a: MONDO:0005626 {source="MONDOLEX:0021096", source="NCIT:C8429"} ! epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335324
property_value: exactMatch NCIT:C8429

[Term]
id: MONDO:0021097
name: intraductal breast papilloma
def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [NCIT:C3863]
synonym: "breast duct papilloma" RELATED [DOID:1626]
synonym: "breast papilloma" EXACT [NCIT:C3863]
synonym: "duct papilloma of breast" EXACT [DOID:1626, NCIT:C3863]
synonym: "duct papilloma of the breast" EXACT [NCIT:C3863]
synonym: "ductal breast papilloma" EXACT [NCIT:C3863]
synonym: "intraductal breast papilloma" EXACT [NCIT:C3863]
synonym: "intraductal papilloma of breast" EXACT [NCIT:C3863]
synonym: "intraductal papilloma of the breast" EXACT [NCIT:C3863]
synonym: "mammary duct papilloma" EXACT [MONDO:patterns/location]
synonym: "papilloma of breast" EXACT [NCIT:C3863]
synonym: "papilloma of the breast" EXACT [DOID:1626, NCIT:C3863]
xref: DOID:1626 {source="MONDO:equivalentTo"}
xref: EFO:1000306 {source="MONDO:equivalentTo"}
xref: NCIT:C3863 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:1626", source="MONDO:directSiblingOf"}
xref: SCTID:254848002 {source="MONDO:equivalentTo", source="DOID:1626", source="MONDO:kboom-pr-0.93/0.85/0.23"}
xref: SCTID:99571000119102 {source="DesignPattern", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.85/0.23"}
is_a: MONDO:0000620 {source="DOID:1626/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! breast benign neoplasm
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0002060 {source="MONDO:Redundant", source="MONDOLEX:0021097", source="NCIT:C3863"} ! intraductal papilloma
is_a: MONDO:0002061 {source="DOID:1626", source="NCIT:C3863"} ! intraductal papillary breast neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0238034
property_value: exactMatch DOID:1626
property_value: exactMatch http://identifiers.org/snomedct/254848002
property_value: exactMatch http://identifiers.org/snomedct/99571000119102
property_value: exactMatch NCIT:C3863

[Term]
id: MONDO:0021098
name: papillomatosis
def: "Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site." [NCIT:C3713]
synonym: "papillomatosis" EXACT [NCIT:C3713]
xref: NCIT:C3713 {source="MONDO:equivalentTo"}
is_a: MONDO:0021096 {source="NCIT:C3713"} ! papillary epithelial neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205875
property_value: exactMatch NCIT:C3713

[Term]
id: MONDO:0021099
name: intraductal papillomatosis
def: "A neoplastic process characterized by the presence of multiple intraductal papillomas." [NCIT:C7363]
synonym: "duct papillomatosis" EXACT [MONDO:patterns/location]
synonym: "intraductal papillomatosis" EXACT [NCIT:C7363]
xref: ICDO:8505/0 {source="NCIT:C7363"}
xref: NCIT:C7363 {source="MONDO:equivalentTo"}
xref: UMLS:C0334377 {source="NCIT:C7363", source="MONDO:equivalentTo"}
is_a: MONDO:0021098 {source="MONDO:Redundant", source="NCIT:C7363"} ! papillomatosis
relationship: disease_has_feature MONDO:0002060 ! intraductal papilloma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334377
property_value: exactMatch NCIT:C7363

[Term]
id: MONDO:0021100
name: breast neoplasm
def: "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." [NCIT:C2910]
synonym: "breast neoplasm" EXACT [NCIT:C2910]
synonym: "breast neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "breast tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "neoplasm of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "neoplasm of the breast" EXACT [NCIT:C2910]
synonym: "neoplasm, breast" EXACT [NCIT:C2910]
synonym: "tumor of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "tumor of the breast" EXACT [NCIT:C2910]
xref: COHD:81251 {source="MONDO:equivalentTo"}
xref: EFO:0003869 {source="MONDO:equivalentTo"}
xref: ICD9:239.3 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001943 {source="MONDO:equivalentTo"}
xref: NCIT:C2910 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BREAST {source="MONDO:equivalentTo"}
xref: SCTID:126926005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.75/0.66"}
xref: UMLS:CN236627 {source="MONDO:equivalentTo"}
is_a: MONDO:0002657 {source="MESH:D001943", source="MONDO:Redundant", source="NCIT:C2910", source="OWLReasoner:2017", source="linkedlifedata"} ! breast disease
is_a: MONDO:0021350 {source="MONDO:Redundant", source="linkedlifedata"} ! neoplasm of thorax
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006141
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1458155
property_value: closeMatch NCIT:C12971
property_value: exactMatch http://identifiers.org/mesh/D001943
property_value: exactMatch http://identifiers.org/snomedct/126926005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236627
property_value: exactMatch NCIT:C2910

[Term]
id: MONDO:0021101
name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor
def: "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27445]
synonym: "appendiceal L-cell glucagon-like peptide producing tumor" RELATED [DOID:8151]
synonym: "appendiceal L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445]
synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor" RELATED [NCIT:C27445]
synonym: "appendix L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445]
synonym: "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27445]
synonym: "appendix L-cell NET" RELATED [NCIT:C27445]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "malignant appendiceal glucagonoma" EXACT [DOID:8151]
synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [DOID:8151]
synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:8151 {source="MONDO:equivalentTo"}
xref: NCIT:C27445 {source="MONDO:equivalentTo", source="DOID:8151"}
xref: UMLS:C3274138 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27445", source="DOID:8151"}
is_a: MONDO:0004210 ! colonic L-cell glucagon-like peptide producing tumor
is_a: MONDO:0015066 {source="MONDO:Redundant", source="NCIT:C27445"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
property_value: exactMatch DOID:8151
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274138
property_value: exactMatch NCIT:C27445

[Term]
id: MONDO:0021102
name: prostate phyllodes tumor
def: "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma." [NCIT:C7574]
subset: ordo_disease
synonym: "cystosarcoma phyllodes of prostate" EXACT [NCIT:C7574]
synonym: "cystosarcoma phyllodes of the prostate" EXACT [NCIT:C7574, Orphanet:498228]
synonym: "malignant phyllodes tumor of prostate (subtype)" RELATED [GARD:0009404]
synonym: "phyllodes neoplasm of prostate" EXACT [NCIT:C7574]
synonym: "phyllodes neoplasm of the prostate" EXACT [NCIT:C7574]
synonym: "phyllodes tumor of prostate" EXACT [NCIT:C7574]
synonym: "phyllodes tumor of the prostate" EXACT [NCIT:C7574]
synonym: "prostate cystosarcoma phyllodes" EXACT [NCIT:C7574]
synonym: "prostate gland phyllodes tumor" EXACT [MONDO:patterns/location]
synonym: "prostate phyllodes neoplasm" EXACT [NCIT:C7574]
synonym: "prostate phyllodes tumor" EXACT [NCIT:C7574]
xref: GARD:0009404 {source="MONDO:equivalentTo"}
xref: NCIT:C7574 {source="MONDO:equivalentTo"}
xref: Orphanet:498228 {source="MONDO:equivalentTo"}
xref: UMLS:C1335409 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7574", source="MONDO:equivalentTo"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C7574"} ! phyllodes tumor
is_a: MONDO:0021066 {source="Orphanet:498228"} ! urinary system neoplasm
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C7574"} ! prostate neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0020032"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335409
property_value: exactMatch NCIT:C7574
property_value: exactMatch Orphanet:498228

[Term]
id: MONDO:0021103
name: obsolete collagen diseases
def: "Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" [MESH:D003095]
synonym: "collagen disease" EXACT [MESH:D003095]
synonym: "collagen disorder" EXACT [CSP2005:0729-7550, DOID:854]
synonym: "disease, collagen" EXACT [MESH:D003095]
synonym: "diseases, collagen" EXACT [MESH:D003095]
xref: DOID:854 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:710.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D003095 {source="MONDO:equivalentTo"}
xref: SCTID:81573002 {source="MONDO:equivalentTo"}
xref: UMLS:C0009326 {source="DOID:854", source="MONDO:equivalentTo"}
property_value: exactMatch DOID:854
property_value: exactMatch http://identifiers.org/mesh/D003095
property_value: exactMatch http://identifiers.org/snomedct/81573002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009326
is_obsolete: true
consider: MONDO:0003900
consider: MONDO:0005554

[Term]
id: MONDO:0021104
name: alcoholic fatty liver disease
def: "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." [MESH:D005235]
synonym: "alcoholic fatty liver" EXACT [MESH:D005235]
synonym: "alcoholic Steatohepatitis" EXACT [MESH:D005235]
xref: COHD:193256 {source="MONDO:equivalentTo"}
xref: ICD9:571.0 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D005235 {source="MONDO:equivalentTo"}
xref: SCTID:50325005 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equivalentTo"}
xref: UMLS:C0015696 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c96"}
xref: UMLS:C2718067 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0004790 {source="MESH:D005235", source="MONDO:Redundant", source="MONDOLEX:0021104", source="linkedlifedata"} ! fatty liver disease
is_a: MONDO:0043693 ! alcoholic liver diseases
property_value: exactMatch http://identifiers.org/mesh/D005235
property_value: exactMatch http://identifiers.org/snomedct/50325005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015696
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2718067

[Term]
id: MONDO:0021105
name: NAFLD1
subset: predisposition
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613282]
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1" EXACT [OMIM:613282]
synonym: "liver disease, alcoholic, susceptibility to, 1" EXACT [OMIM:613282]
synonym: "NAFLD1" EXACT [MONDO:Lexical, OMIM:613282]
xref: OMIM:613282 {source="MONDO:equivalentTo"}
is_a: MONDO:0013209 {source="DC-OMIM:613282", source="MONDOLEX:0021105"} ! non-alcoholic fatty liver disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750440
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750441
property_value: exactMatch http://identifiers.org/omim/613282

[Term]
id: MONDO:0021106
name: laminopathy
def: "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." [https://en.wikipedia.org/wiki/Laminopathy]
subset: ordo_group_of_disorders
xref: Orphanet:98301 {source="MONDO:equivalentTo"}
xref: UMLS:CN236383 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236383
property_value: exactMatch Orphanet:98301

[Term]
id: MONDO:0021107
name: narcolepsy
def: "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." [NCIT:C84489]
synonym: "narcolepsy" EXACT [NCIT:C84489]
synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986]
synonym: "paroxysmal sleep" EXACT [CSP2005:2056-7716, DOID:8986]
xref: DOID:8986 {source="MONDO:equivalentTo"}
xref: ICD9:347.00 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009290 {source="DOID:8986", source="MONDO:equivalentTo", source="ORDO:2073/e", source="MONDO:ontobio", source="Orphanet:2073"}
xref: NCIT:C84489 {source="MONDO:equivalentTo"}
xref: OMIMPS:161400 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:60380001 {source="MONDO:kboom-pr-0.84/0.64/0.29", source="MONDO:equivalentTo"}
xref: UMLS:C0027404 {source="DOID:8986", source="MONDO:equivalentTo", source="ORDO:2073/e", source="Orphanet:2073", source="NCIT:C84489"}
is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489", source="linkedlifedata/inferred"} ! sleep-wake disorder
property_value: exactMatch DOID:8986
property_value: exactMatch http://identifiers.org/mesh/D009290
property_value: exactMatch http://identifiers.org/snomedct/60380001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027404
property_value: exactMatch NCIT:C84489

[Term]
id: MONDO:0021108
name: meningitis (disease)
def: "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." [NCIT:C26828]
synonym: "inflammation of meninx" EXACT []
synonym: "meningitis" EXACT [NCIT:C26828]
synonym: "meninx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:435785 {source="MONDO:equivalentTo"}
xref: ICD9:322.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26828 {source="MONDO:equivalentTo"}
xref: SCTID:7180009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
is_a: MONDO:0005156 ! encephalomyelitis
union_of: MONDO:0006662 ! aseptic meningitis
union_of: MONDO:0006670 ! bacterial meningitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025289
property_value: exactMatch http://identifiers.org/snomedct/7180009
property_value: exactMatch NCIT:C26828

[Term]
id: MONDO:0021109
name: inverted urothelial papilloma
def: "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." [NCIT:C6192]
synonym: "inverted papilloma of urinary tract" EXACT [NCIT:C6192]
synonym: "inverted urothelial papilloma" EXACT [NCIT:C6192]
synonym: "IUP" RELATED [ONCOTREE:IUP]
synonym: "urinary tract inverted papilloma" EXACT [NCIT:C6192]
synonym: "urothelium inverted papilloma" EXACT [MONDO:patterns/location]
xref: NCIT:C6192 {source="MONDO:equivalentTo"}
xref: ONCOTREE:IUP {source="MONDO:equivalentTo"}
xref: UMLS:C1334282 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6192"}
is_a: MONDO:0003064 ! inverted transitional cell papilloma
is_a: MONDO:0004041 {source="MONDOLEX:0021109", source="NCIT:C6192"} ! urothelial papilloma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334282
property_value: exactMatch NCIT:C6192

[Term]
id: MONDO:0021110
name: sweat gland adenoma
def: "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma." [NCIT:C7560]
synonym: "adenoma of sweat gland" EXACT [NCIT:C7560]
synonym: "adenoma of the sweat gland" EXACT [NCIT:C7560]
synonym: "adenoma, sweat gland, benign" EXACT [NCIT:C7560]
synonym: "sweat gland adenoma" EXACT [MONDO:patterns/location, NCIT:C7560]
xref: ICDO:8400/0 {source="NCIT:C7560"}
xref: NCIT:C7560 {source="MONDO:equivalentTo"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! sweat gland neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C7560/inferred", source="OWLReasoner:2017"} ! adenoma
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! epithelial skin neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019522
property_value: exactMatch NCIT:C7560

[Term]
id: MONDO:0021111
name: ureter neoplasm
def: "A benign or malignant neoplasm that affects the ureter." [NCIT:C3427]
synonym: "neoplasm of the ureter" EXACT [NCIT:C3427]
synonym: "neoplasm of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "neoplasms of the ureter" EXACT [NCIT:C3427]
synonym: "neoplasms of ureter" EXACT [NCIT:C3427]
synonym: "tumor of the ureter" EXACT [NCIT:C3427]
synonym: "tumor of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "ureter neoplasm" EXACT [NCIT:C3427]
synonym: "ureter neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ureter tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "ureteral neoplasm" EXACT [NCIT:C3427]
synonym: "ureteral tumor" EXACT [NCIT:C3427]
xref: EFO:0003844 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3427 {source="MONDO:equivalentTo"}
xref: SCTID:126882009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.06"}
is_a: MONDO:0001926 ! ureteral disease
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3427/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041955
property_value: exactMatch http://identifiers.org/snomedct/126882009
property_value: exactMatch NCIT:C3427

[Term]
id: MONDO:0021112
name: scrotum cancer
def: "A primary or metastatic malignant neoplasm affecting the scrotum." [NCIT:C3560]
synonym: "cancer of scrotum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of scrotum" EXACT [MONDO:patterns/cancer, NCIT:C3560]
synonym: "malignant neoplasm of the scrotum" EXACT [NCIT:C3560]
synonym: "malignant scrotal neoplasm" EXACT [NCIT:C3560]
synonym: "malignant scrotal tumor" EXACT [NCIT:C3560]
synonym: "malignant scrotum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of scrotum" EXACT [NCIT:C3560]
synonym: "malignant tumor of the scrotum" EXACT [NCIT:C3560]
synonym: "scrotum cancer" EXACT [MONDO:patterns/location]
xref: ICD9:187.7 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3560 {source="MONDO:equivalentTo"}
xref: SCTID:363454002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"}
xref: UMLS:C0153604 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3560", source="MONDO:equivalentTo"}
is_a: MONDO:0003319 {source="MONDO:Redundant", source="NCIT:C3560", source="OWLReasoner:2017"} ! scrotum neoplasm
is_a: MONDO:0005836 ! male reproductive organ cancer
property_value: exactMatch http://identifiers.org/snomedct/363454002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153604
property_value: exactMatch NCIT:C3560

[Term]
id: MONDO:0021113
name: respiratory failure
def: "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." [NCIT:C26872]
synonym: "acute and chronic respiratory failure" RELATED [DOID:11162, ICD9CM_2006:518.84]
synonym: "acute respiratory failure" NARROW [DOID:11162, NCIT:C27043]
synonym: "acute-on-chronic respiratory failure" RELATED [DOID:11162]
synonym: "chronic respiratory failure" NARROW [DOID:11162]
synonym: "failure, respiratory" EXACT [NCIT:C26872]
synonym: "respiratory failure" EXACT [NCIT:C26872]
synonym: "respiratory insufficiency/failure" EXACT [CSP2005:2596-8662, DOID:11162]
xref: DOID:11162 {source="MONDO:equivalentTo"}
xref: ICD10:J96.0 {source="DOID:11162"}
xref: ICD9:518.81 {source="MONDO:superClassOf", source="DOID:11162"}
xref: ICD9:518.83 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012131 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C26872 {source="MONDO:equivalentTo"}
xref: SCTID:39871006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.70/3.61"}
xref: UMLS:C1145670 {source="NCIT:C26872", source="MONDO:equivalentTo"}
is_a: MONDO:0005275 {source="DOID:11162", source="MONDO:Entailed", source="NCIT:C26872/inferred"} ! lung disease
property_value: exactMatch DOID:11162
property_value: exactMatch http://identifiers.org/mesh/D012131
property_value: exactMatch http://identifiers.org/snomedct/39871006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1145670
property_value: exactMatch NCIT:C26872

[Term]
id: MONDO:0021114
name: Bartholin gland neoplasm
def: "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:C6434]
synonym: "Bartholin gland neoplasm" EXACT [NCIT:C6434]
synonym: "Bartholin's gland neoplasm" EXACT [NCIT:C6434]
synonym: "Bartholin's gland tumor" EXACT [NCIT:C6434]
synonym: "major vestibular gland neoplasm" EXACT []
synonym: "major vestibular gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "major vestibular gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Bartholin's gland" EXACT [NCIT:C6434]
synonym: "neoplasm of major vestibular gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Bartholin's gland" EXACT [NCIT:C6434]
synonym: "tumor of Bartholin's gland" EXACT [NCIT:C6434]
synonym: "tumor of major vestibular gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Bartholin's gland" EXACT [NCIT:C6434]
xref: NCIT:C6434 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C6434"} ! vulvar neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0220616
property_value: exactMatch NCIT:C6434

[Term]
id: MONDO:0021115
name: luminal B breast carcinoma
def: "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." [NCIT:C53555]
synonym: "Luminal B" EXACT [NCIT:C53555]
synonym: "Luminal B breast cancer" EXACT [NCIT:C53555]
synonym: "Luminal B breast carcinoma" EXACT [NCIT:C53555]
synonym: "Luminal B estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53555]
synonym: "Luminal B subtype of breast carcinoma" EXACT [NCIT:C53555]
xref: NCIT:C53555 {source="MONDO:equivalentTo"}
xref: UMLS:C3642346 {source="MONDO:equivalentTo", source="NCIT:C53555"}
is_a: MONDO:0004990 ! breast tumor luminal A or B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642346
property_value: exactMatch NCIT:C53555

[Term]
id: MONDO:0021116
name: luminal A breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." [NCIT:C53554]
synonym: "Luminal A" EXACT [NCIT:C53554]
synonym: "Luminal A breast cancer" EXACT [NCIT:C53554]
synonym: "Luminal A breast carcinoma" EXACT [NCIT:C53554]
synonym: "Luminal A estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53554]
synonym: "Luminal A subtype of breast carcinoma" EXACT [NCIT:C53554]
xref: NCIT:C53554 {source="MONDO:equivalentTo"}
xref: UMLS:C3642345 {source="MONDO:equivalentTo", source="NCIT:C53554"}
is_a: MONDO:0004990 ! breast tumor luminal A or B
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3642345
property_value: exactMatch NCIT:C53554

[Term]
id: MONDO:0021117
name: lung neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." [NCIT:C3200]
synonym: "lung" RELATED [ONCOTREE:LUNG]
synonym: "lung neoplasm" EXACT [NCIT:C3200]
synonym: "lung neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lung neoplasms" EXACT [NCIT:C3200]
synonym: "lung tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "neoplasm of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "neoplasm of the lung" EXACT [NCIT:C3200]
synonym: "neoplasm, lung" RELATED [MESH:D008175]
synonym: "neoplasm, pulmonary" RELATED [MESH:D008175]
synonym: "neoplasms, lung" RELATED [MESH:D008175]
synonym: "neoplasms, pulmonary" RELATED [MESH:D008175]
synonym: "tumor of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "tumor of the lung" EXACT [NCIT:C3200]
xref: MESH:D008175 {source="MONDO:equivalentTo"}
xref: NCIT:C3200 {source="MONDO:equivalentTo"}
xref: ONCOTREE:LUNG {source="MONDO:equivalentTo"}
is_a: MONDO:0005275 {source="MESH:D008175", source="MONDO:Redundant", source="NCIT:C3200"} ! lung disease
is_a: MONDO:0020641 ! respiratory tract neoplasm
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3200"} ! neoplasm of thorax
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024109
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024121
property_value: closeMatch NCIT:C12468
property_value: exactMatch http://identifiers.org/mesh/D008175
property_value: exactMatch NCIT:C3200

[Term]
id: MONDO:0021118
name: intestinal neoplasm
def: "A benign or malignant neoplasm involving the small or large intestine." [NCIT:C3141]
synonym: "bowel neoplasm" RELATED [ONCOTREE:BOWEL]
synonym: "intestinal benign neoplasm" RELATED [DOID:4610]
synonym: "intestinal neoplasm" EXACT [NCIT:C3141]
synonym: "intestinal neoplasms" EXACT [NCIT:C3141]
synonym: "intestinal tumor" EXACT [NCIT:C3141]
synonym: "intestinal tumors" EXACT [DOID:4610, NCIT:C3141]
synonym: "intestine growth" EXACT [CSP2005:2010-1074, DOID:4610]
synonym: "intestine neoplasm" EXACT []
synonym: "intestine neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "intestine tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of intestinal tract" EXACT [DOID:4610]
synonym: "neoplasm of intestine" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of intestines" EXACT [NCIT:C3141]
synonym: "neoplasm of the intestines" EXACT [NCIT:C3141]
synonym: "tumor of intestine" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of intestines" EXACT [NCIT:C3141]
synonym: "tumor of the intestines" EXACT [NCIT:C3141]
xref: DOID:4610 {source="MONDO:equivalentTo"}
xref: NCIT:C3141 {source="DOID:4610", source="MONDO:equivalentTo"}
xref: ONCOTREE:BOWEL {source="MONDO:equivalentTo"}
xref: SCTID:126769007 {source="MONDO:kboom-pr-0.98/0.92/2.11", source="DOID:4610", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C3141", source="linkedlifedata"} ! intestinal disease
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C3141"} ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021841
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021853
property_value: closeMatch NCIT:C12736
property_value: exactMatch DOID:4610
property_value: exactMatch http://identifiers.org/snomedct/126769007
property_value: exactMatch NCIT:C3141

[Term]
id: MONDO:0021119
name: non-functioning endocrine neoplasm
def: "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." [NCIT:C94760]
synonym: "endocrine-inactive tumor" EXACT [NCIT:C94760]
synonym: "non-functioning endocrine neoplasm" EXACT [NCIT:C94760]
synonym: "nonfunctional Endocrine neoplasm" EXACT [NCIT:C94760]
synonym: "nonfunctioning tumor" EXACT [NCIT:C94760]
xref: NCIT:C94760 {source="MONDO:equivalentTo"}
xref: UMLS:C2986656 {source="MONDO:equivalentTo", source="NCIT:C94760"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="MONDOLEX:0021119", source="NCIT:C94760"} ! endocrine gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986656
property_value: exactMatch NCIT:C94760

[Term]
id: MONDO:0021120
name: functioning endocrine neoplasm
def: "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." [NCIT:C94759]
synonym: "functioning endocrine neoplasm" EXACT [NCIT:C94759]
synonym: "functioning tumor" EXACT [NCIT:C94759]
xref: ICDO:8158/1 {source="NCIT:C94759"}
xref: NCIT:C94759 {source="MONDO:equivalentTo"}
xref: UMLS:C2986655 {source="MONDO:equivalentTo", source="NCIT:C94759"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="MONDOLEX:0021120", source="NCIT:C94759"} ! endocrine gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2986655
property_value: exactMatch NCIT:C94759

[Term]
id: MONDO:0021121
name: hemangioendothelioma
def: "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics." [NCIT:C3084]
synonym: "angioendothelioma" EXACT [NCIT:C3084]
synonym: "hemangioendothelioma" EXACT [NCIT:C3084]
xref: GARD:0006557 {source="MONDO:equivalentTo"}
xref: ICDO:9130/1 {source="NCIT:C3084"}
xref: MESH:D006390 {source="MONDO:equivalentTo"}
xref: NCIT:C3084 {source="MONDO:equivalentTo"}
xref: SCTID:403980002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C0018915 {source="NCIT:C3084", source="GARD:0006557", source="MONDO:equivalentTo"}
is_a: MONDO:0021080 {source="NCIT:C3084", source="linkedlifedata"} ! blood vessel neoplasm
property_value: exactMatch http://identifiers.org/mesh/D006390
property_value: exactMatch http://identifiers.org/snomedct/403980002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018915
property_value: exactMatch NCIT:C3084
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma xsd:anyURI {source="GARD:0006557"}

[Term]
id: MONDO:0021122
name: obsolete small cell neuroendocrine carcinoma
property_value: closeMatch DOID:0050875
is_obsolete: true
replaced_by: MONDO:0000402

[Term]
id: MONDO:0021123
name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
def: "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C35871]
synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871]
xref: NCIT:C35871 {source="MONDO:equivalentTo"}
xref: UMLS:C1333481 {source="MONDO:equivalentTo", source="NCIT:C35871", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C35871"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333481
property_value: exactMatch NCIT:C35871

[Term]
id: MONDO:0021124
name: female infertility
def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247]
synonym: "female infertility" EXACT [MESH:D007247]
synonym: "female reproductive system infertility" EXACT [MONDO:patterns/location]
synonym: "female reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "female sterility" RELATED [MESH:D007247]
synonym: "female sub-fertility" RELATED [MESH:D007247]
synonym: "female subfertility" RELATED [MESH:D007247]
synonym: "infertility disorder of female reproductive system" EXACT [MONDO:design_pattern]
synonym: "postpartum sterility" RELATED [MESH:D007247]
synonym: "sterility, female" RELATED [MESH:D007247]
synonym: "sterility, postpartum" RELATED [MESH:D007247]
synonym: "sub fertility, female" RELATED [MESH:D007247]
synonym: "sub-fertility, female" RELATED [MESH:D007247]
synonym: "subfertility, female" RELATED [MESH:D007247]
xref: COHD:201909 {source="MONDO:equivalentTo"}
xref: EFO:0008560 {source="MONDO:equivalentTo"}
xref: ICD10:N97 {source="MONDO:equivalentTo"}
xref: ICD9:628.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:628.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D007247 {source="MONDO:equivalentTo"}
xref: SCTID:6738008 {source="MONDO:kboom-pr-1.00/0.84/12.82", source="MONDO:equivalentTo"}
xref: UMLS:C0341869 {source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="MESH:D007247/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! female reproductive system disease
is_a: MONDO:0005047 {source="EFO:0008560", source="MESH:D007247", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility disorder
property_value: exactMatch http://identifiers.org/mesh/D007247
property_value: exactMatch http://identifiers.org/snomedct/6738008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341869

[Term]
id: MONDO:0021125
name: disease characteristic
def: "An attribute of a disease." [MONDO:cjm]
synonym: "disease qualifier" EXACT []
synonym: "modifier" EXACT [NCIT:C41009]
synonym: "qualifier" EXACT [NCIT:C41009]
xref: NCIT:C41009 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514623
property_value: exactMatch NCIT:C41009

[Term]
id: MONDO:0021126
name: syndromic or isolated
def: "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." [MONDO:cjm]
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021127
name: has a syndromic presentation
def: "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." [MONDO:cjm]
is_a: MONDO:0021126 ! syndromic or isolated

[Term]
id: MONDO:0021128
name: has an isolated presentation
def: "An characteristic of a disease in which the disease is manifested as an isolated feature." [MONDO:cjm]
is_a: MONDO:0021126 ! syndromic or isolated

[Term]
id: MONDO:0021129
name: microphthalmia
def: "Congenital or developmental anomaly in which the eyeballs are abnormally small." [MESH:D008850]
synonym: "microphthalmia" EXACT [MONDO:ambiguous]
synonym: "microphthalmos" NARROW [DOID:10629]
synonym: "nanophthalmia" EXACT EXCLUDE [DOID:10629]
synonym: "nanophthalmia" NARROW [DOID:10629]
synonym: "nanophthalmos" EXACT [DOID:10629]
synonym: "nanophthalmos" NARROW [DOID:10629]
synonym: "simple microphthalmos" EXACT [DOID:10629]
xref: COHD:376512 {source="MONDO:equivalentTo"}
xref: DOID:10629 {source="MONDO:equivalentTo", source="EFO:0005569"}
xref: EFO:0005569 {source="MONDO:equivalentTo"}
xref: HP:0000568 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:Q11.2 {source="Orphanet:35612", source="ORDO:35612/specific", source="DOID:10629", source="ORDO:35612/e"}
xref: ICD9:743.1 {source="EFO:0005569", source="DOID:10629"}
xref: ICD9:743.10 {source="DOID:10629"}
xref: ICD9:743.11 {source="MONDO:equivalentTo", source="DOID:10629", source="i2s"}
xref: MESH:D008850 {source="MONDO:equivalentTo", source="EFO:0005569", source="DOID:10629", source="MONDO:ontobio"}
xref: NCIT:C98989 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0005569", source="DOID:10629"}
xref: OMIMPS:600165 {source="MONDO:cjm", source="MONDO:equivalentTo"}
xref: SCTID:204108000 {source="MONDO:kboom-pr-0.92/0.77/0.95", source="MONDO:equivalentTo", source="DOID:10629"}
is_a: MONDO:0005328 {source="DOID:10629", source="EFO:0005569", source="MESH:D008850/inferred", source="NCIT:C98989/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease
property_value: closeMatch http://identifiers.org/snomedct/156902006
property_value: closeMatch http://identifiers.org/snomedct/204104003
property_value: closeMatch http://identifiers.org/snomedct/204107005
property_value: closeMatch http://identifiers.org/snomedct/204110003
property_value: closeMatch http://identifiers.org/snomedct/268310007
property_value: closeMatch http://identifiers.org/snomedct/61142002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026010
property_value: exactMatch DOID:10629
property_value: exactMatch http://identifiers.org/mesh/D008850
property_value: exactMatch http://identifiers.org/snomedct/204108000
property_value: exactMatch NCIT:C98989

[Term]
id: MONDO:0021130
name: disorder of sphingolipid biosynthesis
def: "An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process." [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of sphingolipid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sphingolipid biosynthetic process disorder" EXACT []
synonym: "rare inborn error of sphingolipid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sphingolipid biosynthetic process" RELATED [MONDO:patterns/inborn_metabolic]
is_a: MONDO:0002525 ! inherited lipid metabolism disorder

[Term]
id: MONDO:0021131
name: frontal lobe ependymal tumor
def: "An ependymal tumor affecting the frontal lobe of the brain." [NCIT:C131573]
synonym: "ependymal tumor of frontal lobe" EXACT [MONDO:design_pattern]
synonym: "frontal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131573]
xref: NCIT:C131573 {source="MONDO:equivalentTo"}
xref: UMLS:C4330009 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001421 {source="MONDO:Redundant", source="NCIT:C131573"} ! frontal lobe neoplasm
is_a: MONDO:0002731 ! cerebral hemisphere cancer
is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C131573"} ! ependymal tumor of brain
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330009
property_value: exactMatch NCIT:C131573

[Term]
id: MONDO:0021132
name: tertiary hyperparathyroidism
def: "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." [NCIT:C114821]
synonym: "tertiary hyperparathyroidism" EXACT [NCIT:C114821]
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C114821 {source="MONDO:equivalentTo"}
xref: SCTID:78200003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0271858 {source="MONDO:equivalentTo", source="NCIT:C114821"}
is_a: MONDO:0001741 {source="NCIT:C114821", source="linkedlifedata"} ! hyperparathyroidism
relationship: disease_arises_from_feature MONDO:0006964 ! secondary hyperparathyroidism (disease)
property_value: exactMatch http://identifiers.org/snomedct/78200003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271858
property_value: exactMatch NCIT:C114821

[Term]
id: MONDO:0021133
name: acquired factor XIII deficiency
def: "An acquired coagulation disorder due to reduced levels and activity of factor XIII." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1484527/, MONDO:cjm]
synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired]
xref: NCIT:C131629 {source="MONDO:equivalentTo"}
xref: UMLS:C0238120 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C131629"}
is_a: MONDO:0018029 {source="NCIT:C131629"} ! congenital factor XIII deficiency
is_a: MONDO:0020599 ! acquired coagulation factor deficiency
intersection_of: MONDO:0002241 ! factor XIII deficiency
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238120
property_value: exactMatch NCIT:C131629

[Term]
id: MONDO:0021134
name: acquired factor X deficiency
def: "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." []
synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired]
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C131626 {source="MONDO:equivalentTo"}
xref: SCTID:33820001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.83"}
xref: UMLS:C0272328 {source="NCIT:C131626", source="MONDO:equivalentTo"}
is_a: MONDO:0002247 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C131626"} ! factor X deficiency
is_a: MONDO:0020599 ! acquired coagulation factor deficiency
intersection_of: MONDO:0002247 ! factor X deficiency
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/33820001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272328
property_value: exactMatch NCIT:C131626

[Term]
id: MONDO:0021135
name: rare or common
subset: obsoletion_candidate
is_a: MONDO:0021125 ! disease characteristic
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0021136
name: rare
def: "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Here we take the European definition to be consistent with Orphanet." [https://www.rarediseaseday.org/article/what-is-a-rare-disease]
synonym: "rare (European definition)" EXACT []
is_a: MONDO:0021135 ! rare or common

[Term]
id: MONDO:0021137
name: not rare
synonym: "common" EXACT []
is_a: MONDO:0021135 ! rare or common

[Term]
id: MONDO:0021138
name: bone marrow cancer
def: "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" [NCIT:C35501]
synonym: "bone marrow cancer" EXACT [MONDO:patterns/location, NCIT:C35501]
synonym: "cancer of bone marrow" EXACT [MONDO:patterns/cancer]
synonym: "malignant bone marrow neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35501]
synonym: "malignant bone marrow tumor" EXACT [NCIT:C35501]
synonym: "malignant neoplasm of bone marrow" EXACT [MONDO:patterns/cancer]
xref: NCIT:C35501 {source="MONDO:equivalentTo"}
xref: UMLS:C2703042 {source="MONDO:equivalentTo", source="NCIT:C35501"}
is_a: MONDO:0000621 ! immune system cancer
is_a: MONDO:0002129 ! bone cancer
is_a: MONDO:0005374 {source="MONDO:Redundant", source="NCIT:C35501"} ! bone marrow neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2703042
property_value: exactMatch NCIT:C35501

[Term]
id: MONDO:0021139
name: congenital or acquired
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021140
name: congenital
def: "A characteristic of a disease in which the disease is present at birth, regardless of cause." [https://en.wikipedia.org/wiki/Birth_defect]
synonym: "inborn" EXACT []
is_a: MONDO:0021139 ! congenital or acquired

[Term]
id: MONDO:0021141
name: acquired
synonym: "not genetically inherited" EXACT [Orphanet:409941]
xref: Orphanet:409941 {source="MONDO:equivalentTo"}
is_a: MONDO:0021139 ! congenital or acquired
property_value: exactMatch Orphanet:409941

[Term]
id: MONDO:0021142
name: acquired rippling muscle disease
def: "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." [doi:10.1002/mus.10156]
synonym: "acquired rippling muscle disease" EXACT [MONDO:patterns/acquired]
synonym: "sporadic rippling muscle disease" EXACT [MONDO:cjm]
is_a: MONDO:0011634 {source="MONDO:Redundant", source="MONDO:cjm"} ! rippling muscle disease
is_a: MONDO:0016105 ! acquired skeletal muscle disease
intersection_of: MONDO:0011634 ! rippling muscle disease
intersection_of: has_modifier MONDO:0021141 ! acquired

[Term]
id: MONDO:0021143
name: melanocytic neoplasm
synonym: "melanocytic neoplasm" EXACT [NCIT:C7058]
synonym: "melanomas and nevi" RELATED [MESH:D018326]
xref: MESH:D018326 {source="MONDO:equivalentTo"}
xref: NCIT:C7058 {source="MONDO:equivalentTo"}
xref: SCTID:399956005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: UMLS:C1302746 {source="NCIT:C7058", source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MESH:D018326/inferred", source="MONDO:Redundant", source="MONDOLEX:0021143", source="NCIT:C7058/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease)
is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy
property_value: exactMatch http://identifiers.org/mesh/D018326
property_value: exactMatch http://identifiers.org/snomedct/399956005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302746
property_value: exactMatch NCIT:C7058

[Term]
id: MONDO:0021144
name: ovarian clear cell tumor
def: "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." [NCIT:C40076]
synonym: "clear cell ovarian cancer" RELATED [ONCOTREE:CCOV]
synonym: "ovarian clear cell neoplasm" EXACT [NCIT:C40076]
synonym: "ovarian clear cell tumor" EXACT [NCIT:C40076]
xref: NCIT:C40076 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CCOV {source="MONDO:equivalentTo"}
xref: UMLS:C0346164 {source="MONDO:equivalentTo", source="NCIT:C40076"}
is_a: MONDO:0002229 {source="NCIT:C40076", source="ONCOTREE:CCOV"} ! ovarian epithelial tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346164
property_value: exactMatch NCIT:C40076

[Term]
id: MONDO:0021145
name: disease of genitourinary system
def: "A disease that involves the genitourinary system." [MONDO:patterns/location]
synonym: "disease of genitourinary system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of genitourinary system" EXACT []
synonym: "disorder of genitourinary system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of genitourinary system" RELATED [MONDO:patterns/location_top]
synonym: "disorder of the genitourinary system" EXACT []
synonym: "genitourinary system disease" EXACT [MONDO:patterns/location]
synonym: "genitourinary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "syndrome of the genitourinary system" RELATED []
synonym: "urogenital disease" RELATED []
synonym: "urogenital disorder" RELATED []
xref: ICD10:N00.N99 {source="MONDO:equivalentTo"}
xref: SCTID:42030000 {source="MONDO:equivalentTo"}
xref: UMLS:C0080276 {source="MONDO:equivalentTo"}
is_a: MONDO:0021199 {source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system
property_value: exactMatch http://identifiers.org/snomedct/42030000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080276

[Term]
id: MONDO:0021146
name: headache disorder
def: "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D020773]
synonym: "cephalgia syndrome" RELATED [MESH:D020773]
synonym: "cephalgia syndromes" RELATED [MESH:D020773]
synonym: "chronic daily headache" RELATED [MESH:D020773]
synonym: "chronic daily headaches" RELATED [MESH:D020773]
synonym: "chronic headache" RELATED [MESH:D020773]
synonym: "chronic headaches" RELATED [MESH:D020773]
synonym: "daily headache, chronic" RELATED [MESH:D020773]
synonym: "daily headaches, chronic" RELATED [MESH:D020773]
synonym: "headache disorder" EXACT [MESH:D020773]
synonym: "headache syndrome" RELATED [MESH:D020773]
synonym: "headache syndromes" RELATED [MESH:D020773]
synonym: "headache, chronic" RELATED [MESH:D020773]
synonym: "headache, chronic daily" RELATED [MESH:D020773]
synonym: "headache, intractable" RELATED [MESH:D020773]
synonym: "headaches, chronic" RELATED [MESH:D020773]
synonym: "headaches, chronic daily" RELATED [MESH:D020773]
synonym: "headaches, intractable" RELATED [MESH:D020773]
synonym: "intractable headache" RELATED [MESH:D020773]
synonym: "intractable headaches" RELATED [MESH:D020773]
synonym: "syndrome, headache" RELATED [MESH:D020773]
xref: COHD:375527 {source="MONDO:equivalentTo"}
xref: MESH:D020773 {source="MONDO:equivalentTo"}
xref: SCTID:230461009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
is_a: MONDO:0002602 ! central nervous system disease
relationship: excluded_subClassOf MONDO:0005560 {source="MESH:D020773"} ! brain disease
property_value: exactMatch http://identifiers.org/mesh/D020773
property_value: exactMatch http://identifiers.org/snomedct/230461009

[Term]
id: MONDO:0021147
name: disorder of development or morphogenesis
def: "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." [MONDO:cjm]
is_a: MONDO:0000001 ! disease or disorder

[Term]
id: MONDO:0021148
name: female reproductive system neoplasm
def: "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." [NCIT:C3053]
synonym: "female reproductive organ neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "female reproductive organ tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "female reproductive system neoplasm" EXACT [NCIT:C3053]
synonym: "female reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "female reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "gynecologic neoplasm" EXACT [NCIT:C3053]
synonym: "gynecologic tumor" EXACT [NCIT:C3053]
synonym: "neoplasm of female reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "neoplasm of the female reproductive system" EXACT [NCIT:C3053]
synonym: "tumor of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "tumor of the female reproductive system" EXACT [NCIT:C3053]
xref: EFO:1001331 {source="MONDO:equivalentTo"}
xref: MESH:D005833 {source="MONDO:equivalentTo"}
xref: NCIT:C3053 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C0017416 {source="NCIT:C3053", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 {source="MONDO:Redundant", source="NCIT:C3053"} ! female reproductive system disease
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3053"} ! reproductive system neoplasm
property_value: exactMatch http://identifiers.org/mesh/D005833
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017416
property_value: exactMatch NCIT:C3053

[Term]
id: MONDO:0021149
name: genetic vs non-genetic etiology
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021150
name: obsolete genetic characteristic
is_obsolete: true
replaced_by: MONDO:0021152

[Term]
id: MONDO:0021151
name: non-genetic
synonym: "non-genomic" RELATED []
is_a: MONDO:0021149 ! genetic vs non-genetic etiology

[Term]
id: MONDO:0021152
name: inherited
def: "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." [MONDO:cjm]
synonym: "constitutitional genetic" RELATED []
synonym: "familial" RELATED []
synonym: "genetic" RELATED []
synonym: "hereditary" RELATED []
synonym: "inherited genetic" RELATED []
xref: EFO:0004420 {source="MONDO:equivalentTo"}
is_a: MONDO:0021149 ! genetic vs non-genetic etiology

[Term]
id: MONDO:0021153
name: obsolete genetic and acquired
synonym: "somatic genetic" RELATED []
is_obsolete: true

[Term]
id: MONDO:0021154
name: dermis disease
def: "A disease that involves the dermis." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79381"}
synonym: "dermis disease" EXACT [MONDO:patterns/location]
synonym: "dermis disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of dermis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dermis" EXACT []
synonym: "disorder of dermis" EXACT [MONDO:patterns/location_top]
synonym: "disorder of dermis" RELATED [MONDO:patterns/location_top]
synonym: "other dermis disorder" EXACT [MONDO:0019295]
xref: Orphanet:79381 {source="MONDO:equivalentTo"}
xref: UMLS:CN227618 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="https://orcid.org/0000-0002-4071-8397"} ! skin disease
relationship: excluded_subClassOf MONDO:0019291 {source="Orphanet:79381"} ! obsolete rare genetic dermis disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227618
property_value: exactMatch Orphanet:79381

[Term]
id: MONDO:0021155
name: X-linked cone-rod dystrophy
def: "X-linked form of cone-rod dystrophy." [MONDO:patterns/x_linked]
synonym: "cone-rod dystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0015993 ! cone-rod dystrophy

[Term]
id: MONDO:0021156
name: hypophysitis
def: "Inflammation of the pituitary gland." [MESH:D000072659]
comment: Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/
synonym: "gland, pituitary" EXACT [NCIT:C12399]
synonym: "hypophysis" EXACT [NCIT:C12399]
synonym: "hypophysis cerebri" EXACT [NCIT:C12399]
synonym: "hypophysitides" EXACT [MESH:D000072659]
synonym: "inflammation of pituitary gland" EXACT []
synonym: "nervous system, pituitary" EXACT [NCIT:C12399]
synonym: "pituitary" EXACT [NCIT:C12399]
synonym: "pituitary gland" EXACT [NCIT:C12399]
synonym: "pituitary gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MESH:D000072659 {source="MONDO:equivalentTo"}
xref: NCIT:C12399 {source="MONDO:equivalentTo"}
xref: SCTID:237705001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0342409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003381 {source="MESH:D000072659", source="MONDO:Redundant", source="linkedlifedata"} ! pituitary gland disease
is_a: MONDO:0015144 ! brain inflammatory disease
property_value: exactMatch http://identifiers.org/mesh/D000072659
property_value: exactMatch http://identifiers.org/snomedct/237705001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342409
property_value: exactMatch NCIT:C12399

[Term]
id: MONDO:0021157
name: gonococcal cervicitis
synonym: "gonorrhea of cervix" EXACT [MONDO:cjm]
synonym: "gonorrhea of uterine cervix" EXACT [MONDO:cjm]
xref: SCTID:237083000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0812378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002345 {source="linkedlifedata"} ! cervicitis (disease)
is_a: MONDO:0004277 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/237083000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0812378

[Term]
id: MONDO:0021158
name: gonococcal epididymo-orchitis
xref: SCTID:236772009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: UMLS:C0341782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! gonorrhea
is_a: MONDO:0004778 {source="MONDO:Redundant", source="MONDOLEX:0021158", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! epididymo-orchitis
property_value: exactMatch http://identifiers.org/snomedct/236772009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341782

[Term]
id: MONDO:0021159
name: gonococcal salpingitis
def: "An salpingitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused salpingitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae salpingitis" EXACT []
xref: SCTID:237038001 {source="MONDO:kboom-pr-0.95/0.76/1.83", source="MONDO:equivalentTo"}
xref: UMLS:C0341811 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003619 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! salpingitis
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea
property_value: exactMatch http://identifiers.org/snomedct/237038001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341811

[Term]
id: MONDO:0021160
name: gonococcal cystitis
def: "An cystitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused cystitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae cystitis" EXACT []
xref: SCTID:197848003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0473230 {source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata"} ! gonorrhea
is_a: MONDO:0005247 ! urinary tract infection (disease)
is_a: MONDO:0006032 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis
property_value: exactMatch http://identifiers.org/snomedct/197848003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473230

[Term]
id: MONDO:0021161
name: gonococcal prostatitis
def: "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused prostatitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae prostatitis (disease)" EXACT []
xref: SCTID:197967000 {source="MONDO:kboom-pr-0.95/0.76/1.83", source="MONDO:equivalentTo"}
xref: UMLS:C0341755 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! gonorrhea
is_a: MONDO:0005280 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostatitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/197967000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341755

[Term]
id: MONDO:0021162
name: carotenemia
xref: ICD10:E67.1 {source="DOID:9969"}
xref: ICD9:278.3 {source="MONDO:relatedTo", source="DOID:9969"}
xref: UMLS:C0154271 {source="MONDO:equivalentTo", source="DOID:9969"}
is_a: MONDO:0005066 ! metabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154271
property_value: exactMatch NCIT:C26963

[Term]
id: MONDO:0021163
name: kidney neoplasm
def: "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." [NCIT:C3150]
synonym: "kidney neoplasm" EXACT [NCIT:C3150]
synonym: "kidney neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "kidney tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "neoplasm of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "neoplasm of the kidney" EXACT [NCIT:C3150]
synonym: "renal neoplasm" EXACT [NCIT:C3150]
synonym: "renal tumor" EXACT [NCIT:C3150]
synonym: "renal tumors" EXACT [NCIT:C3150]
synonym: "tumor of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "tumor of the kidney" EXACT [NCIT:C3150]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3150 {source="MONDO:equivalentTo"}
xref: ONCOTREE:KIDNEY {source="MONDO:equivalentTo"}
xref: SCTID:126880001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.06"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="NCIT:C3150", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney disease
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3150/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022646
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0022665
property_value: closeMatch NCIT:C12415
property_value: exactMatch http://identifiers.org/snomedct/126880001
property_value: exactMatch NCIT:C3150

[Term]
id: MONDO:0021164
name: posthitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of prepuce of penis" EXACT []
synonym: "prepuce of penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: SCTID:44318002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.94/0.85/0.40"}
xref: UMLS:C0235640 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002036 ! penile disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/44318002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235640

[Term]
id: MONDO:0021165
name: Paget disease
def: "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." [NCIT:C7073]
synonym: "Paget cell neoplasm" EXACT [NCIT:C7073]
synonym: "Paget disease" EXACT [NCIT:C7073]
synonym: "Paget's cell neoplasm" EXACT [NCIT:C7073]
synonym: "Paget's disease" EXACT [NCIT:C7073]
xref: NCIT:C7073 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="NCIT:C7073"} ! adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368019
property_value: exactMatch NCIT:C7073

[Term]
id: MONDO:0021166
name: inflammatory disease
def: "A disease involving a pathogenic inflammatory response in the anatomical structure." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "anatomical structure inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of anatomical structure" EXACT []
synonym: "inflammatory disease" EXACT []
synonym: "inflammatory disorder" EXACT []
xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C93210 {source="MONDO:equivalentTo"}
xref: SCTID:128139000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.38"}
xref: UMLS:C1290884 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C93210"}
is_a: MONDO:0000001 ! disease or disorder
disjoint_from: MONDO:0024471 ! non-inflammatory vasculopathy
property_value: exactMatch http://identifiers.org/snomedct/128139000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290884
property_value: exactMatch NCIT:C93210

[Term]
id: MONDO:0021167
name: myositis
def: "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of muscle tissue" EXACT []
synonym: "inflammatory disorder of muscle" EXACT [DOID:633]
synonym: "inflammatory disorder of muscle (disorder)" EXACT []
synonym: "muscle tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: COHD:73001 {source="MONDO:equivalentTo"}
xref: DOID:633 {source="EFO:0000783", source="MONDO:equivalentTo"}
xref: EFO:0000783 {source="MONDO:equivalentTo"}
xref: ICD10:G72.49 {source="DOID:633"}
xref: ICD10:M60 {source="DOID:633"}
xref: ICD10:M60.9 {source="DOID:633"}
xref: ICD9:728.9 {source="EFO:0000783"}
xref: MESH:D009220 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"}
xref: NCIT:C27578 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"}
xref: SCTID:128496001 {source="DOID:633", source="EFO:0000783", source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo"}
xref: UMLS_CUI:C0027121 {source="DOID:633"}
is_a: MONDO:0005336 {source="DOID:633", source="linkedlifedata"} ! myopathy
is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease
property_value: closeMatch http://identifiers.org/snomedct/203110007
property_value: closeMatch http://identifiers.org/snomedct/268108002
property_value: closeMatch http://identifiers.org/snomedct/26889001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027121
property_value: exactMatch DOID:633
property_value: exactMatch http://identifiers.org/mesh/D009220
property_value: exactMatch http://identifiers.org/snomedct/128496001
property_value: exactMatch NCIT:C27578

[Term]
id: MONDO:0021168
name: hibernoma
def: "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." [NCIT:C3702]
synonym: "Brown fat neoplasm" EXACT [NCIT:C3702]
synonym: "Brown fat tumor" EXACT [NCIT:C3702]
synonym: "fetal fat cell lipoma" EXACT [NCIT:C3702]
synonym: "hibernoma" EXACT [NCIT:C3702]
synonym: "hibernoma, benign" EXACT [NCIT:C3702]
xref: ICDO:8880/0 {source="NCIT:C3702"}
xref: NCIT:C3702 {source="MONDO:equivalentTo"}
xref: SCTID:404064001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.45"}
xref: UMLS:C0205822 {source="MONDO:equivalentTo", source="NCIT:C3702"}
is_a: MONDO:0005106 {source="MONDOLEX:0021168", source="NCIT:C3702"} ! lipoma
property_value: exactMatch http://identifiers.org/snomedct/404064001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205822
property_value: exactMatch NCIT:C3702

[Term]
id: MONDO:0021169
name: epithelioid hemangioma
def: "A hemangioma characterized by the presence of epithelioid endothelial cells." [NCIT:C4298]
synonym: "angiolymphoid hyperplasia with eosinophilia" EXACT EXCLUDE [DOID:474, NCIT:C4298]
synonym: "epithelioid haemangioma" EXACT [DOID:474]
synonym: "epithelioid hemangioma" EXACT [DOID:474, NCIT:C4298]
synonym: "histiocytoid hemangioma" EXACT [MONDO:0003119, NCIT:C4298]
xref: DOID:474 {source="MONDO:equivalentTo"}
xref: ICDO:9125/0 {source="NCIT:C4298"}
xref: NCIT:C4298 {source="MONDO:equivalentTo", source="DOID:474"}
xref: UMLS:C0205788 {source="MONDO:equivalentTo", source="DOID:474"}
is_a: MONDO:0006500 {source="DOID:474", source="NCIT:C4298"} ! hemangioma
property_value: closeMatch http://identifiers.org/snomedct/125574005
property_value: closeMatch http://identifiers.org/snomedct/189869009
property_value: closeMatch http://identifiers.org/snomedct/189870005
property_value: closeMatch http://identifiers.org/snomedct/253054009
property_value: closeMatch http://identifiers.org/snomedct/33929001
property_value: closeMatch http://identifiers.org/snomedct/69159005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1368797
property_value: exactMatch DOID:474
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205788
property_value: exactMatch NCIT:C4298

[Term]
id: MONDO:0021170
name: obsolete amyotonia congenita
subset: gard_rare
synonym: "amyotonia congenita" RELATED [OMIM:205000]
synonym: "Oppenheim disease" RELATED [GARD:0005798, OMIM:205000]
synonym: "Oppenheim's disease" RELATED [GARD:0005798]
xref: GARD:0005798 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002735
is_obsolete: true

[Term]
id: MONDO:0021171
name: Timothy syndrome type 1 (disorder)
def: "Classic form of Timothy syndrome, includes all features of generic." [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
synonym: "Timothy syndrome, classic type" EXACT [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:699256006 {source="MONDO:equivalentTo"}
is_a: MONDO:0010979 {source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome
property_value: exactMatch http://identifiers.org/snomedct/699256006

[Term]
id: MONDO:0021172
name: Timothy syndrome type 2 (disorder)
def: "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
synonym: "Timothy syndrome, atypical type" EXACT [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
xref: SCTID:719907006 {source="MONDO:equivalentTo"}
xref: UMLS:C4304347 {source="MONDO:equivalentTo"}
is_a: MONDO:0010979 {source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome
property_value: exactMatch http://identifiers.org/snomedct/719907006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4304347

[Term]
id: MONDO:0021175
name: herpetic vulvovaginitis
def: "Infection of the vulva and the vagina caused by herpes simplex virus." [NCIT:C34697]
synonym: "Herpetic Vulvovaginitis" RELATED [NCIT:C34697]
synonym: "Herpetic vulvovaginitis" RELATED [UMLS:C0019386]
synonym: "herpetic vulvovaginitis" EXACT [NCIT:C34697]
xref: ICD9:054.11 {source="linkedlife"}
xref: NCIT:C34697 {source="UMLS:C0019386", source="MONDO:equivalentTo"}
xref: SCTID:27420004 {source="UMLS:C0019386", source="MONDO:equivalentTo"}
xref: UMLS:C0019386 {source="MONDO:equivalentTo"}
is_a: MONDO:0005608 ! varicella zoster infection
is_a: MONDO:0007019 {source="NCIT:C34697", source="UMLS:C0019386"} ! vulvovaginitis
is_a: MONDO:0023557 ! infective vaginitis
property_value: exactMatch http://identifiers.org/snomedct/27420004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019386
property_value: exactMatch NCIT:C34697

[Term]
id: MONDO:0021176
name: autoimmune hepatitis type 2
def: "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
synonym: "autoimmune hepatitis type 2" EXACT []
synonym: "type 2 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/]
xref: SCTID:721712002 {source="MONDO:equivalentTo"}
xref: UMLS:C4303163 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016264 {source="MONDO:cjm", source="MONDOLEX:0021176", source="linkedlifedata"} ! autoimmune hepatitis
property_value: exactMatch http://identifiers.org/snomedct/721712002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303163

[Term]
id: MONDO:0021177
name: autoimmune hepatitis type 3
def: "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
synonym: "autoimmune hepatitis type 3" EXACT []
xref: SCTID:721713007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303162 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016264 {source="MONDO:cjm", source="MONDOLEX:0021177", source="linkedlifedata"} ! autoimmune hepatitis
property_value: exactMatch http://identifiers.org/snomedct/721713007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303162

[Term]
id: MONDO:0021178
name: injury
def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [NCIT:C3671]
subset: other_hierarchy
synonym: "injury" EXACT [NCIT:C3671]
synonym: "trauma" EXACT [NCIT:C3671]
synonym: "traumatic injury" EXACT [NCIT:C3671]
synonym: "wound" EXACT [NCIT:C3671]
xref: COHD:440921 {source="MONDO:equivalentTo"}
xref: EFO:0000546 {source="MONDO:equivalentTo"}
xref: ICD10:S00.T98 {source="MONDO:subClassOf"}
xref: MESH:D014947 {source="MONDO:equivalentTo"}
xref: NCIT:C3671 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
is_a: MONDO:0000001 {notes="dubious - will likely move to separate hierarchy"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3263723
property_value: exactMatch http://identifiers.org/mesh/D014947
property_value: exactMatch NCIT:C3671

[Term]
id: MONDO:0021179
name: proteostasis deficiencies
def: "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." [MESH:D057165]
synonym: "deficiencies, Proteostasis" EXACT [MESH:D057165]
synonym: "deficiency, Proteostasis" EXACT [MESH:D057165]
synonym: "disease, Protein folding" NARROW [MESH:D057165]
synonym: "disease, Protein Misfolding" NARROW [MESH:D057165]
synonym: "diseases, Protein folding" NARROW [MESH:D057165]
synonym: "diseases, Protein Misfolding" NARROW [MESH:D057165]
synonym: "disorder, Protein folding" NARROW [MESH:D057165]
synonym: "disorder, Protein Misfolding" NARROW [MESH:D057165]
synonym: "disorders, Protein folding" NARROW [MESH:D057165]
synonym: "disorders, Protein Misfolding" NARROW [MESH:D057165]
synonym: "dysfunction, Proteostasis" EXACT [MESH:D057165]
synonym: "dysfunctions, Proteostasis" EXACT [MESH:D057165]
synonym: "folding disease, Protein" NARROW [MESH:D057165]
synonym: "folding diseases, Protein" NARROW [MESH:D057165]
synonym: "folding disorder, Protein" NARROW [MESH:D057165]
synonym: "folding disorders, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disease, Protein" NARROW [MESH:D057165]
synonym: "Misfolding diseases, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disorder, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disorders, Protein" NARROW [MESH:D057165]
synonym: "Protein folding disease" NARROW [MESH:D057165]
synonym: "Protein folding diseases" NARROW [MESH:D057165]
synonym: "Protein folding disorder" NARROW [MESH:D057165]
synonym: "Protein folding disorders" NARROW [MESH:D057165]
synonym: "Protein Misfolding disease" NARROW [MESH:D057165]
synonym: "Protein Misfolding diseases" NARROW [MESH:D057165]
synonym: "Protein Misfolding disorder" NARROW [MESH:D057165]
synonym: "Protein Misfolding disorders" NARROW [MESH:D057165]
synonym: "proteinopathy" RELATED [https://en.wikipedia.org/wiki/Proteopathy, MONDO:cjm]
synonym: "proteopathic disease" RELATED [https://en.wikipedia.org/wiki/Proteopathy, MONDO:cjm]
synonym: "proteopathy" RELATED [https://en.wikipedia.org/wiki/Proteopathy, MONDO:cjm]
synonym: "Proteostasis deficiency" EXACT [MESH:D057165]
synonym: "Proteostasis dysfunction" EXACT [MESH:D057165]
synonym: "Proteostasis dysfunctions" EXACT [MESH:D057165]
xref: MESH:D057165 {source="MONDO:equivalentTo"}
xref: UMLS:C2718001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MESH:D057165"} ! metabolic disease
property_value: exactMatch http://identifiers.org/mesh/D057165
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2718001

[Term]
id: MONDO:0021180
name: acquired xanthinuria
def: "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria]
synonym: "acquired xanthinuria" EXACT [MONDO:patterns/acquired]
is_a: MONDO:0000721 ! xanthinuria
is_a: MONDO:0006504 ! acquired metabolic disease
intersection_of: MONDO:0000721 ! xanthinuria
intersection_of: has_modifier MONDO:0021141 ! acquired

[Term]
id: MONDO:0021181
name: inherited blood coagulation disorder
def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." [MESH:D025861]
subset: ordo_group_of_disorders {source="Orphanet:183654"}
synonym: "coagulation disorder, hereditary" EXACT [MESH:D025861]
synonym: "coagulation disorder, inherited" EXACT [MESH:D025861]
synonym: "coagulation disorders, hereditary" EXACT [MESH:D025861]
synonym: "coagulation disorders, inherited" EXACT [MESH:D025861]
synonym: "hereditary blood coagulation disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary blood coagulation disorders" EXACT [MESH:D025861]
synonym: "hereditary coagulation disorder" EXACT [MESH:D025861]
synonym: "hereditary coagulation disorders" EXACT [MESH:D025861]
synonym: "inherited blood coagulation disease" RELATED [DOID:2214]
synonym: "inherited blood coagulation disorders" EXACT [MESH:D025861]
synonym: "inherited coagulation disorder" EXACT [MESH:D025861]
synonym: "inherited coagulation disorders" EXACT [MESH:D025861]
synonym: "rare genetic coagulation disorder" EXACT [Orphanet:98429]
xref: DOID:2214 {source="MONDO:equivalentTo"}
xref: MESH:D025861 {source="MONDO:equivalentTo", source="DOID:2214"}
xref: Orphanet:183654 {source="MONDO:equivalentTo"}
xref: UMLS:C0852077 {source="MONDO:equivalentTo", source="DOID:2214"}
xref: UMLS:CN226819 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001531 {source="DOID:2214", source="MESH:D025861", source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MESH:D025861", source="MONDO:Entailed", source="MONDO:Redundant"} ! Mendelian disease
intersection_of: MONDO:0001531 ! blood coagulation disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:2214
property_value: exactMatch http://identifiers.org/mesh/D025861
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852077
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN226819
property_value: exactMatch Orphanet:183654

[Term]
id: MONDO:0021183
name: HTLV-2 infection
synonym: "HTLV II INFECT" RELATED [MSH:D015491]
synonym: "HTLV-2 infection" RELATED [UMLS:C0020102]
synonym: "HTLV-II Infection" RELATED [MESH:D015491, MSH:D015491]
synonym: "HTLV-II infection" RELATED [UMLS:C0020102]
synonym: "HTLV-II Infections" RELATED [MSH:D015491]
synonym: "Human T lymphotropic Virus 2 Infection" RELATED [MSH:D015491]
synonym: "Human T lymphotropic Virus 2 Infections" RELATED [MSH:D015491]
synonym: "Human T-lymphotropic Virus 2 Infection" RELATED [MSH:D015491]
synonym: "Human T-lymphotropic virus 2 infection" RELATED [UMLS:C0020102]
synonym: "Human T-lymphotropic Virus 2 Infections" RELATED [MSH:D015491]
synonym: "INFECT HTLV II" RELATED [MSH:D015491]
synonym: "Infection, HTLV-II" RELATED [MESH:D015491, MSH:D015491]
synonym: "Infections, HTLV II" RELATED [MESH:D015491, MSH:D015491]
synonym: "Infections, HTLV-II" RELATED [MESH:D015491, MSH:D015491]
xref: EFO:1001349 {source="MONDO:equivalentTo"}
xref: GARD:0009783 {source="MONDO:equivalentTo"}
xref: MESH:D015491 {source="MONDO:equivalentTo", source="UMLS:C0020102"}
xref: SCTID:425740005 {source="MONDO:equivalentTo", source="UMLS:C0020102"}
xref: UMLS:C0020102 {source="MONDO:equivalentTo"}
is_a: MONDO:0021184 {source="MESH:D015491"} ! deltaretrovirus infections
relationship: has_modifier MONDO:0021136 {source="GARD:0009783"} ! rare
property_value: exactMatch http://identifiers.org/mesh/D015491
property_value: exactMatch http://identifiers.org/snomedct/425740005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020102

[Term]
id: MONDO:0021184
name: deltaretrovirus infections
def: "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." [MESH:D006800]
synonym: "BLV infection" RELATED [MESH:D006800]
synonym: "BLV infections" RELATED [MESH:D006800]
synonym: "Deltaretrovirus infection" RELATED [MESH:D006800]
synonym: "HTLV BLV infections" RELATED [MESH:D006800]
synonym: "HTLV infection" RELATED [MESH:D006800]
synonym: "HTLV infections" RELATED [MESH:D006800]
synonym: "HTLV-BLV infection" RELATED [MESH:D006800]
synonym: "HTLV-BLV infections" RELATED [MESH:D006800]
synonym: "infection, Deltaretrovirus" RELATED [MESH:D006800]
synonym: "infections, Deltaretrovirus" RELATED [MESH:D006800]
xref: MESH:D006800 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/mesh/D006800

[Term]
id: MONDO:0021187
name: hyperlipidemia (disease)
synonym: "hyperlipemia" RELATED [MESH:D006949]
synonym: "hyperlipemias" RELATED [MESH:D006949]
synonym: "hyperlipidemia" EXACT [MESH:D006949]
synonym: "lipemia" RELATED [MESH:D006949]
synonym: "lipemias" RELATED [MESH:D006949]
synonym: "lipidemia" RELATED [MESH:D006949]
synonym: "lipidemias" RELATED [MESH:D006949]
xref: COHD:432867 {source="MONDO:equivalentTo"}
xref: EFO:0003774 {source="MONDO:equivalentTo"}
xref: HP:0003077 {source="MONDO:otherHierarchy"}
xref: ICD10:E78.5 {source="MONDO:equivalentTo"}
xref: ICD9:272.4 {source="linkedlifedata"}
xref: MESH:D006949 {source="MONDO:equivalentTo"}
xref: SCTID:55822004 {source="MONDO:equivalentTo"}
xref: UMLS:C0020473 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:CN236649 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0005066 {source="ICD10:E78.5/inferred", source="MESH:D006949/inferred", source="MONDO:Redundant", source="NCIT:C34709", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch http://identifiers.org/mesh/D006949
property_value: exactMatch http://identifiers.org/snomedct/55822004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236649

[Term]
id: MONDO:0021188
name: obsolete hemangiopericytoma
is_obsolete: true
replaced_by: MONDO:0005094

[Term]
id: MONDO:0021189
name: intestinal motility disease
def: "A disease that has its basis in the disruption of intestinal motility." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of intestinal motility" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of intestinal motility" RELATED [MONDO:patterns/basis_in_disruption_of_process]
is_a: MONDO:0005020 ! intestinal disease

[Term]
id: MONDO:0021190
name: DNA repair disease
def: "A disease that has its basis in the disruption of DNA repair." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "chromosome instability syndrome" RELATED [MESH:D049914]
synonym: "chromosome instability syndromes" RELATED [MESH:D049914]
synonym: "deficiency of DNA repair" EXACT []
synonym: "deficient DNA repair" RELATED [MESH:D049914]
synonym: "deficient DNA Repairs" RELATED [MESH:D049914]
synonym: "disorder of DNA repair" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of DNA repair" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder, DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "disorders, DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "DNA repair deficiency" RELATED [MESH:D049914]
synonym: "DNA repair deficiency disorders" RELATED [MESH:D049914]
synonym: "DNA repair disorder" EXACT []
synonym: "DNA repair, deficient" RELATED [MESH:D049914]
synonym: "DNA repair-deficiencies" RELATED [MESH:D049914]
synonym: "DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "DNA repair-deficiency disorder" RELATED [MESH:D049914]
synonym: "DNA Repairs, deficient" RELATED [MESH:D049914]
synonym: "repair, deficient DNA" RELATED [MESH:D049914]
synonym: "Repairs, deficient DNA" RELATED [MESH:D049914]
synonym: "syndrome, chromosome instability" RELATED [MESH:D049914]
synonym: "syndromes, chromosome instability" RELATED [MESH:D049914]
xref: EFO:0008499 {source="MONDO:equivalentTo"}
xref: MESH:D049914 {source="MONDO:equivalentTo"}
xref: NCIT:C7757 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MESH:D049914", source="MONDO:Redundant"} ! metabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268134
property_value: exactMatch http://identifiers.org/mesh/D049914
property_value: exactMatch NCIT:C7757

[Term]
id: MONDO:0021191
name: malignant ependymoma
def: "A malignant form of ependymoma." [MONDO:patterns/malignant]
synonym: "ependymal neoplasm" EXACT EXCLUDE [DOID:5074]
synonym: "ependymal tumors" BROAD [DOID:5074]
synonym: "ependymoma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:5074 {source="MONDO:equivalentTo"}
xref: UMLS_CUI:C1333407 {source="DOID:5074"}
is_a: MONDO:0015917 {source="DOID:5074", source="MONDO:Entailed", source="MONDO:Redundant"} ! malignant glioma
is_a: MONDO:0016698 ! ependymoma
property_value: exactMatch DOID:5074

[Term]
id: MONDO:0021192
name: odontogenic neoplasm
def: "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." [NCIT:C3286]
synonym: "calcareous tooth neoplasm" EXACT []
synonym: "calcareous tooth neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "calcareous tooth tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of calcareous tooth" EXACT [MONDO:patterns/neoplasm]
synonym: "odontogenic neoplasm" EXACT [NCIT:C3286]
synonym: "odontogenic tumor" EXACT [NCIT:C3286]
synonym: "tumor of calcareous tooth" EXACT [MONDO:patterns/neoplasm]
xref: ICDO:9270/1 {source="NCIT:C3286"}
xref: MESH:D009808 {source="MONDO:equivalentTo"}
xref: NCIT:C3286 {source="MONDO:equivalentTo"}
xref: UMLS:C0028880 {source="NCIT:C3286", source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3286/inferred"} ! head and neck neoplasm
is_a: MONDO:0006999 {source="MONDO:Redundant", source="NCIT:C3286"} ! tooth disease
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: exactMatch http://identifiers.org/mesh/D009808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028880
property_value: exactMatch NCIT:C3286

[Term]
id: MONDO:0021193
name: neuroepithelial neoplasm
def: "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." [NCIT:C3787]
comment: Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
synonym: "neoplasm of neuroepithelial tissue" EXACT [NCIT:C3787]
synonym: "neoplasm of neuroepithelium" EXACT [NCIT:C3787]
synonym: "neoplasm of the neuroepithelium" EXACT [NCIT:C3787]
synonym: "neuroepithelial neoplasm" EXACT [NCIT:C3787]
synonym: "neuroepithelial neoplasms" EXACT [NCIT:C3787]
synonym: "neuroepithelial tissue neoplasm" EXACT [NCIT:C3787]
synonym: "neuroepithelial tissue tumor" EXACT [NCIT:C3787]
synonym: "neuroepithelial tumor" EXACT [NCIT:C3787]
synonym: "neuroepithelial tumors" EXACT [NCIT:C3787]
synonym: "primary neuroepithelial tumor" RELATED [ONCOTREE:PRNET]
synonym: "tumor of neuroepithelial tissue" EXACT [NCIT:C3787]
synonym: "tumor of neuroepithelium" EXACT [NCIT:C3787]
synonym: "tumor of the neuroepithelium" EXACT [NCIT:C3787]
xref: MESH:D018302 {source="MONDO:equivalentTo"}
xref: NCIT:C3787 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PRNET {source="MONDO:equivalentTo"}
is_a: MONDO:0021248 {source="NCIT:C35562", source="NCIT:C3787/inferred"} ! nervous system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206715
property_value: exactMatch http://identifiers.org/mesh/D018302
property_value: exactMatch NCIT:C3787

[Term]
id: MONDO:0021194
name: disease by subcellular system affected
def: "A grouping of diseases based on molecular activity, cellular process or subcellular component." [MONDO:cjm]
subset: metaclass
is_a: MONDO:0000001 ! disease or disorder
union_of: MONDO:0021195 ! disease by cellular process disrupted
union_of: MONDO:0021196 ! disease by molecular activity disrupted
union_of: MONDO:0021197 ! disease by cellular component affected

[Term]
id: MONDO:0021195
name: disease by cellular process disrupted
subset: metaclass
is_a: MONDO:0021194 {source="MONDO:EntailedDL", source="MONDO:Redundant"} ! disease by subcellular system affected

[Term]
id: MONDO:0021196
name: disease by molecular activity disrupted
subset: metaclass
is_a: MONDO:0021194 {source="MONDO:EntailedDL", source="MONDO:Redundant"} ! disease by subcellular system affected

[Term]
id: MONDO:0021197
name: disease by cellular component affected
subset: metaclass
is_a: MONDO:0021194 {source="MONDO:EntailedDL", source="MONDO:Redundant"} ! disease by subcellular system affected

[Term]
id: MONDO:0021198
name: obsolete rare genetic disease
subset: obsoletion_candidate
xref: Orphanet:98053 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN206953 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN206953
property_value: exactMatch Orphanet:98053
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0021199
name: disease by anatomical system
def: "A disease that disrupts the functioning of an organ system." [MONDO:cjm]
subset: metaclass
synonym: "anatomical system disease" EXACT [MONDO:patterns/location]
synonym: "disease of anatomical entity" RELATED [DOID:7]
synonym: "disease of anatomical system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of anatomical system" RELATED [MONDO:patterns/location_top]
xref: DOID:7 {source="MONDO:equivalentTo"}
xref: ICD9:796.4 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:362965005 {source="MONDO:equivalentTo"}
xref: UMLS:C1285159 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="DOID:7", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder
property_value: exactMatch DOID:7
property_value: exactMatch http://identifiers.org/snomedct/362965005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285159

[Term]
id: MONDO:0021200
name: obsolete rare disease
def: "Any of the forms of disease that have a rare incidence." [MONDO:patterns/rare]
comment: At this time we do not have a formal definition but this should correspond to ORDO classification of rare diseases
subset: obsoletion_candidate
synonym: "rare disease" EXACT [MONDO:patterns/rare]
synonym: "rare disease or disorder" EXACT [MONDO:patterns/rare]
synonym: "rare diseases" EXACT [NCIT:C4873]
synonym: "rare disorder" EXACT [NCIT:C4873]
xref: MESH:D035583 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C4873 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/mesh/D035583
property_value: exactMatch NCIT:C4873
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001
consider: UMLS:C0678236 {source="NCIT:C4873"}

[Term]
id: MONDO:0021201
name: skin infection
def: "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." [NCIT:C35025]
synonym: "skin infection" EXACT [NCIT:C35025]
xref: NCIT:C35025 {source="MONDO:equivalentTo"}
xref: SCTID:19824006 {source="MONDO:equivalentTo"}
xref: UMLS:C0037278 {source="MONDO:equivalentTo", source="NCIT:C35025"}
is_a: MONDO:0002406 ! dermatitis
is_a: MONDO:0024294 ! skin disease caused by infection
property_value: exactMatch http://identifiers.org/snomedct/19824006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037278
property_value: exactMatch NCIT:C35025

[Term]
id: MONDO:0021202
name: allergic otitis media
def: "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of otitis media (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic otitis media (disease)" EXACT []
xref: SCTID:26169004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271447 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005271 ! allergic disease
is_a: MONDO:0005441 {source="MONDO:Redundant", source="linkedlifedata"} ! otitis media (disease)
property_value: exactMatch http://identifiers.org/snomedct/26169004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271447

[Term]
id: MONDO:0021203
name: serous otitis media
synonym: "otitis media with effusion" EXACT [https://en.wikipedia.org/wiki/Otitis_media]
synonym: "secretory otitis media" EXACT [https://en.wikipedia.org/wiki/Otitis_media]
synonym: "SOM" EXACT ABBREVIATION [https://en.wikipedia.org/wiki/Otitis_media]
xref: SCTID:80327007 {source="MONDO:equivalentTo"}
is_a: MONDO:0001212 {source="linkedlifedata"} ! non-suppurative otitis media
property_value: exactMatch http://identifiers.org/snomedct/80327007

[Term]
id: MONDO:0021204
name: chronic otitis media
def: "Chronic form of otitis media (disease)." [MONDO:patterns/chronic]
synonym: "chronic otitis media (disease)" EXACT []
synonym: "otitis media (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: ICD9:381.3 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:21186006 {source="MONDO:equivalentTo"}
xref: UMLS:C0271441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005441 {source="MONDO:Redundant", source="linkedlifedata"} ! otitis media (disease)
property_value: exactMatch http://identifiers.org/snomedct/21186006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271441

[Term]
id: MONDO:0021205
name: disease of ear
def: "A disease that involves the ear." [MONDO:patterns/location]
synonym: "disease of ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ear" EXACT []
synonym: "disorder of ear" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ear" RELATED [MONDO:patterns/location_top]
synonym: "Ear disease" EXACT [NCIT:C26757]
synonym: "ear disease" EXACT [MONDO:patterns/location]
synonym: "ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Ear disorder" EXACT [NCIT:C26757]
xref: COHD:378161 {source="MONDO:equivalentTo"}
xref: ICD9:388.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:388.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26757 {source="MONDO:equivalentTo"}
xref: SCTID:25906001 {source="MONDO:equivalentTo"}
xref: UMLS:C0013447 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26757"}
is_a: MONDO:0005042 ! head disease
is_a: MONDO:0024623 {source="MONDO:cjm", source="NCIT:C26757", source="linkedlifedata"} ! otorhinolaryngologic disease
property_value: exactMatch http://identifiers.org/snomedct/25906001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013447
property_value: exactMatch NCIT:C26757

[Term]
id: MONDO:0021206
name: chronic non-suppurative otitis media
def: "Chronic form of non-suppurative otitis media." [MONDO:patterns/chronic]
synonym: "non-suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: COHD:376425 {source="MONDO:equivalentTo"}
xref: ICD9:381.3 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:232254004 {source="MONDO:equivalentTo"}
xref: UMLS:C0395869 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001212 {source="MONDO:Redundant", source="MONDOLEX:0021206", source="linkedlifedata"} ! non-suppurative otitis media
is_a: MONDO:0021204 ! chronic otitis media
property_value: exactMatch http://identifiers.org/snomedct/232254004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395869

[Term]
id: MONDO:0021207
name: Crohn jejunitis
def: "An Crohn disease involving a pathogenic inflammatory response in the jejunum." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: SCTID:91390005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267379 {source="MONDO:equivalentTo"}
is_a: MONDO:0005539 ! small bowel Crohn disease
property_value: exactMatch http://identifiers.org/snomedct/91390005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267379

[Term]
id: MONDO:0021208
name: endocrine alopecia
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:54539003 {source="MONDO:equivalentTo"}
xref: UMLS:C0002176 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="MONDO:Redundant", source="linkedlifedata"} ! alopecia
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch http://identifiers.org/snomedct/54539003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002176

[Term]
id: MONDO:0021209
name: heart neoplasm
def: "A neoplasm (disease) that involves the heart." [MONDO:patterns/location]
subset: gard_rare
synonym: "Cardiac neoplasm" EXACT [NCIT:C3081]
synonym: "Cardiac neoplasms" EXACT [NCIT:C3081]
synonym: "Cardiac tumor" EXACT [NCIT:C3081]
synonym: "heart neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "heart tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "Intracavitary tumors" RELATED [GARD:0002619]
synonym: "myocardial tumors (rhabdomyomas and fibromas)" RELATED [GARD:0002619]
synonym: "neoplasm of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "neoplasm of the heart" EXACT [NCIT:C3081]
synonym: "primary cardiac tumors, childhood" RELATED [GARD:0002619]
synonym: "tumor of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "tumor of the heart" EXACT [NCIT:C3081]
xref: EFO:1001339 {source="MONDO:equivalentTo"}
xref: GARD:0002619 {source="MONDO:equivalentTo"}
xref: NCIT:C3081 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C3081"} ! heart disease
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3081"} ! neoplasm of thorax
is_a: MONDO:0024757 ! cardiovascular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0018809
property_value: exactMatch NCIT:C3081

[Term]
id: MONDO:0021210
name: trachea neoplasm
def: "A neoplasm (disease) that involves the trachea." [MONDO:patterns/location]
synonym: "neoplasm of the trachea" EXACT [NCIT:C3419]
synonym: "neoplasm of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
synonym: "trachea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trachea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
synonym: "tracheal neoplasm" EXACT [NCIT:C3419]
synonym: "tracheal neoplasm" RELATED [NCIT:C3419]
synonym: "tracheal tumor" EXACT [NCIT:C3419]
synonym: "tumor of the trachea" EXACT [NCIT:C3419]
synonym: "tumor of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
xref: EFO:1001437 {source="MONDO:equivalentTo"}
xref: GTR:AN0481062 {source="UMLS:C0040582"}
xref: GTR:AN0505660 {source="UMLS:C0040582"}
xref: HP:0100551 {xref="UMLS:C0040582", source="UMLS:C0040582"}
xref: MESH:D014134 {source="MONDO:equivalentTo", source="UMLS:C0040582"}
xref: NCIT:C3419 {source="MONDO:equivalentTo", source="UMLS:C0040582"}
xref: UMLS:C0040582 {source="NCIT:C3419", source="MONDO:equivalentTo"}
is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C3419"} ! tracheal disease
is_a: MONDO:0020641 ! respiratory tract neoplasm
property_value: exactMatch http://identifiers.org/mesh/D014134
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040582
property_value: exactMatch NCIT:C3419

[Term]
id: MONDO:0021211
name: brain neoplasm
def: "A neoplasm (disease) that involves the brain." [MONDO:patterns/location]
synonym: "brain neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brain neoplasms" EXACT [NCIT:C2907]
synonym: "brain tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "neoplasm of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "neoplasm of the brain" EXACT [NCIT:C2907]
synonym: "tumor of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "tumor of the Brain" EXACT [NCIT:C2907]
xref: COHD:373724 {source="MONDO:equivalentTo"}
xref: NCIT:C2907 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C2907/inferred"} ! central nervous system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006118
property_value: exactMatch NCIT:C2907

[Term]
id: MONDO:0021218
name: placenta neoplasm
def: "A neoplasm (disease) that involves the placenta." [MONDO:patterns/location]
synonym: "neoplasm of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "neoplasm of the placenta" EXACT [NCIT:C4858]
synonym: "placenta neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "placenta neoplasms" EXACT [NCIT:C4858]
synonym: "placenta tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "placenta tumors" EXACT [NCIT:C4858]
synonym: "placental neoplasm" EXACT [NCIT:C4858]
synonym: "placental tumor" EXACT [NCIT:C4858]
synonym: "placental tumors" EXACT [NCIT:C4858]
synonym: "trophoblastic tumor placental site" RELATED [GARD:0007403]
synonym: "tumor of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "tumor of the placenta" EXACT [NCIT:C4858]
xref: GARD:0007403 {source="MONDO:equivalentTo"}
xref: NCIT:C4858 {source="MONDO:equivalentTo"}
is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4858"} ! placenta disease
is_a: MONDO:0021353 ! tumor of uterus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524541
property_value: exactMatch NCIT:C4858

[Term]
id: MONDO:0021220
name: eye neoplasm
def: "A neoplasm (disease) that involves the eye." [MONDO:patterns/location]
synonym: "eye neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eye tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3030]
synonym: "eyeball of camera-type eye neoplasm" EXACT []
synonym: "eyeball of camera-type eye tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the eye" EXACT [NCIT:C3030]
synonym: "ocular neoplasm" EXACT [NCIT:C3030]
synonym: "ocular tumor" EXACT [NCIT:C3030]
synonym: "tumor of eye" EXACT [MONDO:patterns/neoplasm, NCIT:C3030]
synonym: "tumor of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the eye" EXACT [NCIT:C3030]
xref: NCIT:C3030 {source="MONDO:equivalentTo"}
xref: ONCOTREE:EYE {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="MONDO:Redundant", source="NCIT:C3030"} ! eye disease
is_a: MONDO:0005586 ! head and neck neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015392
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0015414
property_value: closeMatch NCIT:C12401
property_value: exactMatch NCIT:C3030

[Term]
id: MONDO:0021221
name: vestibulocochlear nerve neoplasm
def: "A neoplasm (disease) that involves the vestibulocochlear nerve." [MONDO:patterns/location]
synonym: "acoustic nerve neoplasm" EXACT [NCIT:C5120]
synonym: "acoustic nerve tumor" EXACT [NCIT:C5120]
synonym: "cranial nerve eight neoplasms" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve neoplasm" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve neoplasms" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve tumor" EXACT [NCIT:C5120]
synonym: "neoplasm of acoustic nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the acoustic nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the vestibulocochlear nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of vestibulocochlear nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
synonym: "tumor of acoustic nerve" EXACT [NCIT:C5120]
synonym: "tumor of eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "tumor of the acoustic nerve" EXACT [NCIT:C5120]
synonym: "tumor of the eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "tumor of the vestibulocochlear nerve" EXACT [NCIT:C5120]
synonym: "tumor of vestibulocochlear nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
synonym: "Vestibuloacoustic nerve neoplasms" EXACT [NCIT:C5120]
synonym: "vestibulocochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vestibulocochlear nerve neoplasms" EXACT [NCIT:C5120]
synonym: "vestibulocochlear nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
xref: NCIT:C5120 {source="MONDO:equivalentTo"}
xref: SCTID:387891008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346330 {source="NCIT:C5120", source="MONDO:equivalentTo"}
is_a: MONDO:0001563 ! vestibulocochlear nerve disease
is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5120", source="linkedlifedata"} ! cranial nerve neoplasm
property_value: exactMatch http://identifiers.org/snomedct/387891008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346330
property_value: exactMatch NCIT:C5120

[Term]
id: MONDO:0021222
name: lacrimal gland neoplasm
def: "A neoplasm (disease) that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "lacrimal gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "neoplasm of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "neoplasm of the lacrimal gland" EXACT [NCIT:C4360]
synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "tumor of the lacrimal gland" EXACT [NCIT:C4360]
xref: NCIT:C4360 {source="MONDO:equivalentTo"}
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4360/inferred"} ! eye neoplasm
is_a: MONDO:0024625 ! disorder of lacrimal gland
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339124
property_value: exactMatch NCIT:C4360

[Term]
id: MONDO:0021223
name: digestive system neoplasm
def: "A neoplasm (disease) that involves the digestive system." [MONDO:patterns/location]
synonym: "digestive neoplasm" EXACT [NCIT:C3052]
synonym: "digestive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "digestive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "digestive tumor" EXACT [NCIT:C3052]
synonym: "gastrointestinal neoplasm" EXACT [NCIT:C3052]
synonym: "gastrointestinal system neoplasm" EXACT [NCIT:C3052]
synonym: "gastrointestinal system tumor" EXACT [NCIT:C3052]
synonym: "gastrointestinal tumor" EXACT [NCIT:C3052]
synonym: "GI neoplasm" EXACT [NCIT:C3052]
synonym: "GI system neoplasm" EXACT [NCIT:C3052]
synonym: "GI system tumor" EXACT [NCIT:C3052]
synonym: "GI tumor" EXACT [NCIT:C3052]
synonym: "neoplasm of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "neoplasm of gastrointestinal system" EXACT [NCIT:C3052]
synonym: "neoplasm of GI system" EXACT [NCIT:C3052]
synonym: "neoplasm of the digestive system" EXACT [NCIT:C3052]
synonym: "neoplasm of the gastrointestinal system" EXACT [NCIT:C3052]
synonym: "neoplasm of the GI system" EXACT [NCIT:C3052]
synonym: "tumor of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "tumor of gastrointestinal system" EXACT [NCIT:C3052]
synonym: "tumor of GI system" EXACT [NCIT:C3052]
synonym: "tumor of the digestive system" EXACT [NCIT:C3052]
synonym: "tumor of the gastrointestinal system" EXACT [NCIT:C3052]
synonym: "tumor of the GI system" EXACT [NCIT:C3052]
xref: EFO:0008549 {source="MONDO:equivalentTo"}
xref: MESH:D005770 {source="MONDO:equivalentTo"}
xref: NCIT:C3052 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005070 {source="EFO:0008549", source="MESH:D005770/inferred", source="MONDO:Redundant", source="MONDOLEX:0021223", source="NCIT:C3052/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017185
property_value: exactMatch http://identifiers.org/mesh/D005770
property_value: exactMatch NCIT:C3052

[Term]
id: MONDO:0021224
name: iris neoplasm
def: "A neoplasm (disease) that involves the iris." [MONDO:patterns/location]
synonym: "iris neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "iris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "neoplasm of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "neoplasm of the iris" EXACT [NCIT:C3142]
synonym: "tumor of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "tumor of the iris" EXACT [NCIT:C3142]
xref: NCIT:C3142 {source="MONDO:equivalentTo"}
xref: UMLS:C0022079 {source="NCIT:C3142", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002289 ! iris disease
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C3142"} ! uvea neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022079
property_value: exactMatch NCIT:C3142

[Term]
id: MONDO:0021225
name: uvea neoplasm
def: "A neoplasm (disease) that involves the uvea." [MONDO:patterns/location]
synonym: "neoplasm of the uvea" EXACT [NCIT:C3436]
synonym: "neoplasm of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "tumor of the uvea" EXACT [NCIT:C3436]
synonym: "tumor of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "uvea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uvea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "uveal neoplasm" EXACT [NCIT:C3436]
synonym: "uveal tumor" EXACT [NCIT:C3436]
xref: NCIT:C3436 {source="MONDO:equivalentTo"}
xref: UMLS:C0042162 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3436"}
is_a: MONDO:0002661 {source="MONDO:Redundant", source="NCIT:C3436"} ! uveal disease
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3436"} ! eye neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042162
property_value: exactMatch NCIT:C3436

[Term]
id: MONDO:0021227
name: adrenal gland neoplasm
def: "A neoplasm (disease) that involves the adrenal gland." [MONDO:patterns/location]
synonym: "adrenal gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adrenal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "adrenal neoplasm" EXACT [NCIT:C2859]
synonym: "adrenal neoplasms" EXACT [NCIT:C2859]
synonym: "adrenal tumor" EXACT [NCIT:C2859]
synonym: "ADRENALGLAND" RELATED [ONCOTREE:ADRENALGLAND]
synonym: "neoplasm of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "neoplasm of the adrenal gland" EXACT [NCIT:C2859]
synonym: "tumor of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "tumor of the adrenal gland" EXACT [NCIT:C2859]
xref: EFO:0003850 {source="MONDO:equivalentTo"}
xref: NCIT:C2859 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ADRENALGLAND {source="MONDO:equivalentTo"}
is_a: MONDO:0002082 ! endocrine gland neoplasm
is_a: MONDO:0005495 {source="MONDO:Redundant", source="NCIT:C2859"} ! adrenal gland disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001624
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001625
property_value: closeMatch NCIT:C12666
property_value: exactMatch NCIT:C2859

[Term]
id: MONDO:0021228
name: brainstem neoplasm
def: "A neoplasm (disease) that involves the brainstem." [MONDO:patterns/location]
synonym: "Brain stem neoplasm" EXACT [NCIT:C4869]
synonym: "Brain stem neoplasm" RELATED [NCIT:C4869]
synonym: "brain stem tumor" EXACT [NCIT:C4869]
synonym: "brainstem neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brainstem tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "neoplasm of brain stem" EXACT [NCIT:C4869]
synonym: "neoplasm of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "neoplasm of the brain stem" EXACT [NCIT:C4869]
synonym: "neoplasm of the brainstem" EXACT [NCIT:C4869]
synonym: "tumor of brain stem" EXACT [NCIT:C4869]
synonym: "tumor of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "tumor of the brain stem" EXACT [NCIT:C4869]
synonym: "tumor of the brainstem" EXACT [NCIT:C4869]
xref: NCIT:C4869 {source="MONDO:equivalentTo"}
xref: Orphanet:36414 {source="MONDO:equivalentTo"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4869/inferred"} ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0677866
property_value: exactMatch NCIT:C4869
property_value: exactMatch Orphanet:36414

[Term]
id: MONDO:0021229
name: ciliary body neoplasm
def: "A neoplasm (disease) that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ciliary body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "neoplasm of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "neoplasm of the ciliary body" EXACT [NCIT:C4364]
synonym: "tumor of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "tumor of the ciliary body" EXACT [NCIT:C4364]
xref: NCIT:C4364 {source="MONDO:equivalentTo"}
xref: UMLS:C0339349 {source="NCIT:C4364", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002970 {source="MONDO:Redundant", source="NCIT:C4364"} ! ciliary body disease
is_a: MONDO:0021224 ! iris neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339349
property_value: exactMatch NCIT:C4364

[Term]
id: MONDO:0021230
name: uterine cervix neoplasm
def: "A neoplasm (disease) that involves the uterine cervix." [MONDO:patterns/location]
synonym: "Cervical neoplasm" EXACT [NCIT:C2940]
synonym: "Cervical neoplasm" RELATED [NCIT:C2940]
synonym: "cervical tumor" EXACT [NCIT:C2940]
synonym: "cervix" RELATED [ONCOTREE:CERVIX]
synonym: "cervix neoplasm" EXACT [NCIT:C2940]
synonym: "cervix tumor" EXACT [NCIT:C2940]
synonym: "cervix uteri neoplasm" EXACT [NCIT:C2940]
synonym: "cervix uteri tumor" EXACT [NCIT:C2940]
synonym: "neoplasm of cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of cervix uteri" EXACT [NCIT:C2940]
synonym: "neoplasm of the cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of the cervix uteri" EXACT [NCIT:C2940]
synonym: "neoplasm of the uterine cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
synonym: "tumor of cervix" EXACT [NCIT:C2940]
synonym: "tumor of cervix uteri" EXACT [NCIT:C2940]
synonym: "tumor of the cervix" EXACT [NCIT:C2940]
synonym: "tumor of the cervix uteri" EXACT [NCIT:C2940]
synonym: "tumor of the uterine cervix" EXACT [NCIT:C2940]
synonym: "tumor of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
synonym: "uterine cervix neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine cervix tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
xref: NCIT:C2940 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CERVIX {source="MONDO:equivalentTo"}
is_a: MONDO:0002256 ! cervix disease
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C2940"} ! tumor of uterus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007873
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0007874
property_value: closeMatch NCIT:C12311
property_value: exactMatch NCIT:C2940

[Term]
id: MONDO:0021231
name: retina neoplasm
def: "A neoplasm (disease) that involves the retina." [MONDO:patterns/location]
synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the retina" EXACT [NCIT:C4800]
synonym: "retina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "retina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4800]
synonym: "retinal neoplasm" EXACT [NCIT:C4800]
synonym: "retinal tumor" EXACT [NCIT:C4800]
synonym: "tumor of retina" EXACT [MONDO:patterns/neoplasm, NCIT:C4800]
synonym: "tumor of the retina" EXACT [NCIT:C4800]
xref: EFO:1000509 {source="MONDO:equivalentTo"}
xref: NCIT:C4800 {source="MONDO:equivalentTo"}
is_a: MONDO:0005283 ! retinal disease
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4800"} ! eye neoplasm
is_a: MONDO:0021248 ! nervous system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0524801
property_value: exactMatch NCIT:C4800

[Term]
id: MONDO:0021232
name: pineal body neoplasm
def: "A neoplasm (disease) that involves the pineal body." [MONDO:patterns/location]
synonym: "neoplasm of pineal area" EXACT [NCIT:C3328]
synonym: "neoplasm of pineal body" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of pineal region" EXACT [NCIT:C3328]
synonym: "neoplasm of the pineal area" EXACT [NCIT:C3328]
synonym: "neoplasm of the pineal region" EXACT [NCIT:C3328]
synonym: "pineal area neoplasm" EXACT [NCIT:C3328]
synonym: "pineal area tumor" EXACT [NCIT:C3328]
synonym: "pineal body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3328]
synonym: "pineal neoplasm" EXACT [NCIT:C3328]
synonym: "pineal region neoplasm" EXACT [NCIT:C3328]
synonym: "pineal region tumor" EXACT [NCIT:C3328]
synonym: "pineal tumor" EXACT [NCIT:C3328]
synonym: "pinealoma" EXACT [NCIT:C3328]
synonym: "tumor of pineal area" EXACT [NCIT:C3328]
synonym: "tumor of pineal body" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of pineal region" EXACT [NCIT:C3328]
synonym: "tumor of the pineal area" EXACT [NCIT:C3328]
synonym: "tumor of the pineal region" EXACT [NCIT:C3328]
xref: NCIT:C3328 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PINT {source="MONDO:equivalentTo"}
is_a: MONDO:0002082 ! endocrine gland neoplasm
is_a: MONDO:0003081 ! thalamic disease
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3328/inferred"} ! brain neoplasm
is_a: MONDO:0100070 ! neuroendocrine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1412004
property_value: exactMatch NCIT:C3328

[Term]
id: MONDO:0021233
name: ear neoplasm
def: "A neoplasm (disease) that involves the ear." [MONDO:patterns/location]
synonym: "ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Ear neoplasms" EXACT [NCIT:C3000]
synonym: "Ear tumor" EXACT [NCIT:C3000]
synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Ear" EXACT [NCIT:C3000]
synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Ear" EXACT [NCIT:C3000]
synonym: "tumor of Ear" EXACT [NCIT:C3000]
synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Ear" EXACT [NCIT:C3000]
xref: NCIT:C3000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3000"} ! head and neck neoplasm
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C3000"} ! disease of ear
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013449
property_value: exactMatch NCIT:C3000

[Term]
id: MONDO:0021234
name: spinal cord neoplasm
def: "A neoplasm (disease) that involves the spinal cord." [MONDO:patterns/location]
synonym: "neoplasm of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "neoplasm of the spinal cord" EXACT [NCIT:C3381]
synonym: "spinal cord neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "spinal cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "tumor of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "tumor of the spinal cord" EXACT [NCIT:C3381]
xref: NCIT:C3381 {source="MONDO:equivalentTo"}
xref: UMLS:C0037930 {source="NCIT:C3381", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002545 ! spinal cord disease
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3381/inferred"} ! central nervous system neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037930
property_value: exactMatch NCIT:C3381

[Term]
id: MONDO:0021235
name: external ear neoplasm
def: "A neoplasm (disease) that involves the external ear." [MONDO:patterns/location]
synonym: "external ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "external Ear tumor" EXACT [NCIT:C4652]
synonym: "external ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of external Ear" EXACT [NCIT:C4652]
synonym: "neoplasm of external ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the external Ear" EXACT [NCIT:C4652]
synonym: "tumor of external Ear" EXACT [NCIT:C4652]
synonym: "tumor of external ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the external Ear" EXACT [NCIT:C4652]
xref: NCIT:C4652 {source="MONDO:equivalentTo"}
xref: SCTID:277155005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349575 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4652"}
is_a: MONDO:0002776 ! external ear disease
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4652"} ! ear neoplasm
property_value: exactMatch http://identifiers.org/snomedct/277155005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349575
property_value: exactMatch NCIT:C4652

[Term]
id: MONDO:0021237
name: adrenal medulla neoplasm
def: "A neoplasm (disease) that involves the adrenal medulla." [MONDO:patterns/location]
synonym: "adrenal medulla neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of adrenal medulla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of adrenal medulla" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C4856 {source="MONDO:equivalentTo"}
xref: UMLS:C0596046 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4856"}
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C4856"} ! adrenal gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0596046
property_value: exactMatch NCIT:C4856

[Term]
id: MONDO:0021238
name: cornea neoplasm
def: "A neoplasm (disease) that involves the cornea." [MONDO:patterns/location]
synonym: "cornea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cornea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "corneal neoplasm" EXACT [NCIT:C4361]
synonym: "corneal tumor" EXACT [NCIT:C4361]
synonym: "neoplasm of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "neoplasm of the cornea" EXACT [NCIT:C4361]
synonym: "tumor of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "tumor of the cornea" EXACT [NCIT:C4361]
xref: NCIT:C4361 {source="MONDO:equivalentTo"}
xref: UMLS:C0339304 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4361", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="MONDO:Redundant", source="NCIT:C4361"} ! corneal disease
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4361"} ! eye neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339304
property_value: exactMatch NCIT:C4361

[Term]
id: MONDO:0021239
name: urethra neoplasm
def: "A neoplasm (disease) that involves the urethra." [MONDO:patterns/location]
synonym: "neoplasm of the urethra" EXACT [NCIT:C3428]
synonym: "neoplasm of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "neoplasms. urethra" EXACT [NCIT:C3428]
synonym: "tumor of the urethra" EXACT [NCIT:C3428]
synonym: "tumor of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "tumors. urethra" EXACT [NCIT:C3428]
synonym: "urethra neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urethra neoplasms" EXACT [NCIT:C3428]
synonym: "urethra tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "urethra tumors" EXACT [NCIT:C3428]
synonym: "urethral neoplasm" EXACT [NCIT:C3428]
synonym: "urethral neoplasms" EXACT [NCIT:C3428]
synonym: "urethral tumor" EXACT [NCIT:C3428]
synonym: "urethral tumors" EXACT [NCIT:C3428]
xref: EFO:0003846 {source="MONDO:equivalentTo"}
xref: NCIT:C3428 {source="MONDO:equivalentTo"}
is_a: MONDO:0004184 {source="MONDO:Redundant", source="NCIT:C3428"} ! urethral disease
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3428"} ! urinary system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041971
property_value: exactMatch NCIT:C3428

[Term]
id: MONDO:0021240
name: tongue neoplasm
def: "A neoplasm (disease) that involves the tongue." [MONDO:patterns/location]
synonym: "neoplasm of the tongue" EXACT [NCIT:C3416]
synonym: "neoplasm of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
synonym: "tongue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "tongue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
synonym: "tumor of the tongue" EXACT [NCIT:C3416]
synonym: "tumor of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
xref: EFO:0003871 {source="MONDO:equivalentTo"}
xref: NCIT:C3416 {source="MONDO:equivalentTo"}
xref: SCTID:126778001 {source="MONDO:equivalentTo"}
is_a: MONDO:0001165 ! tongue disease
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3416/inferred", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040411
property_value: exactMatch http://identifiers.org/snomedct/126778001
property_value: exactMatch NCIT:C3416

[Term]
id: MONDO:0021241
name: buccal mucosa neoplasm
def: "A neoplasm (disease) that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "buccal mucosa neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "buccal mucosa tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "neoplasm of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "neoplasm of the buccal mucosa" EXACT [NCIT:C4405]
synonym: "tumor of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "tumor of the buccal mucosa" EXACT [NCIT:C4405]
xref: NCIT:C4405 {source="MONDO:equivalentTo"}
xref: SCTID:126802007 {source="MONDO:equivalentTo"}
xref: UMLS:C0345563 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4405"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4405/inferred", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0021223 ! digestive system neoplasm
is_a: MONDO:0044987 ! face disease
is_a: MONDO:0044992 ! mouth mucosa disease
property_value: exactMatch http://identifiers.org/snomedct/126802007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345563
property_value: exactMatch NCIT:C4405

[Term]
id: MONDO:0021242
name: sublingual gland neoplasm
def: "A neoplasm (disease) that involves the sublingual gland." [MONDO:patterns/location]
synonym: "neoplasm of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "neoplasm of the sublingual gland" EXACT [NCIT:C3392]
synonym: "sublingual gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sublingual gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "tumor of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "tumor of the sublingual gland" EXACT [NCIT:C3392]
xref: EFO:1001430 {source="MONDO:equivalentTo"}
xref: MESH:D013362 {source="MONDO:equivalentTo"}
xref: NCIT:C3392 {source="MONDO:equivalentTo"}
xref: SCTID:126790004 {source="MONDO:equivalentTo"}
xref: UMLS:C0038554 {source="NCIT:C3392", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3392", source="linkedlifedata"} ! neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/mesh/D013362
property_value: exactMatch http://identifiers.org/snomedct/126790004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038554
property_value: exactMatch NCIT:C3392

[Term]
id: MONDO:0021243
name: parotid gland neoplasm
def: "A neoplasm (disease) that involves the parotid gland." [MONDO:patterns/location]
synonym: "neoplasm of parotid" EXACT [NCIT:C3314]
synonym: "neoplasm of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "neoplasm of the parotid" EXACT [NCIT:C3314]
synonym: "neoplasm of the parotid gland" EXACT [NCIT:C3314]
synonym: "parotid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parotid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "parotid neoplasm" EXACT [NCIT:C3314]
synonym: "parotid tumor" EXACT [NCIT:C3314]
synonym: "tumor of parotid" EXACT [NCIT:C3314]
synonym: "tumor of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "tumor of the parotid" EXACT [NCIT:C3314]
synonym: "tumor of the parotid gland" EXACT [NCIT:C3314]
xref: EFO:0003873 {source="MONDO:equivalentTo"}
xref: NCIT:C3314 {source="MONDO:equivalentTo"}
xref: SCTID:126788000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005899 ! parotid disease
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3314", source="linkedlifedata"} ! neoplasm of major salivary gland
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030581
property_value: exactMatch http://identifiers.org/snomedct/126788000
property_value: exactMatch NCIT:C3314

[Term]
id: MONDO:0021244
name: submandibular gland neoplasm
def: "A neoplasm (disease) that involves the submandibular gland." [MONDO:patterns/location]
synonym: "neoplasm of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "neoplasm of the submandibular gland" EXACT [NCIT:C3393]
synonym: "submandibular gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "submandibular gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "tumor of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "tumor of the submandibular gland" EXACT [NCIT:C3393]
xref: EFO:1001853 {source="MONDO:equivalentTo"}
xref: MESH:D013365 {source="MONDO:equivalentTo"}
xref: NCIT:C3393 {source="MONDO:equivalentTo"}
xref: SCTID:254464000 {source="MONDO:equivalentTo"}
xref: UMLS:C0038558 {source="NCIT:C3393", source="MONDO:equivalentTo"}
is_a: MONDO:0001597 ! submandibular gland disease
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3393", source="linkedlifedata"} ! neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/mesh/D013365
property_value: exactMatch http://identifiers.org/snomedct/254464000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038558
property_value: exactMatch NCIT:C3393

[Term]
id: MONDO:0021245
name: oral cavity neoplasm
def: "A neoplasm (disease) that involves the oral cavity." [MONDO:patterns/location]
synonym: "mouth neoplasm" EXACT [NCIT:C7606]
synonym: "mouth tumor" EXACT [NCIT:C7606]
synonym: "neoplasm of oral cavity" EXACT [MONDO:patterns/neoplasm]
synonym: "oral cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oral cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7606]
synonym: "tumor of mouth" RELATED []
synonym: "tumor of oral cavity" EXACT [MONDO:patterns/neoplasm]
xref: EFO:0003868 {source="MONDO:equivalentTo"}
xref: NCIT:C7606 {source="MONDO:equivalentTo"}
xref: SCTID:235075007 {source="MONDO:equivalentTo"}
xref: UMLS:C0026640 {source="MONDO:equivalentTo", source="NCIT:C7606"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C7606/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: exactMatch http://identifiers.org/snomedct/235075007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026640
property_value: exactMatch NCIT:C7606

[Term]
id: MONDO:0021246
name: pharynx neoplasm
def: "A neoplasm (disease) that involves the pharynx." [MONDO:patterns/location]
synonym: "neoplasm of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "neoplasm of the pharynx" EXACT [NCIT:C3325]
synonym: "pharyngeal neoplasms" EXACT [NCIT:C3325]
synonym: "pharyngeal tumor" EXACT [NCIT:C3325]
synonym: "pharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pharynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "tumor of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "tumor of the pharynx" EXACT [NCIT:C3325]
xref: NCIT:C3325 {source="MONDO:equivalentTo"}
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031347
property_value: exactMatch NCIT:C3325

[Term]
id: MONDO:0021247
name: obsolete renal pelvis neoplasm
is_obsolete: true

[Term]
id: MONDO:0021248
name: nervous system neoplasm
def: "A neoplasm (disease) that involves the nervous system." [MONDO:patterns/location]
synonym: "neoplasm of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "neoplasm of the nervous system" EXACT [NCIT:C3268]
synonym: "nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasms" EXACT [NCIT:C3268]
synonym: "nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "nervous system tumour" EXACT [NCIT:C3268]
synonym: "tumor of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "tumor of the nervous system" EXACT [NCIT:C3268]
xref: COHD:444200 {source="MONDO:equivalentTo"}
xref: NCIT:C3268 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0021248", source="NCIT:C3268/inferred"} ! neoplasm (disease)
is_a: MONDO:0005071 {source="MONDO:Redundant", source="NCIT:C3268"} ! nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027766
property_value: exactMatch NCIT:C3268

[Term]
id: MONDO:0021249
name: lip neoplasm
def: "A neoplasm (disease) that involves the lip." [MONDO:patterns/location]
synonym: "lip neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lip neoplasms" EXACT [NCIT:C3191]
synonym: "lip tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3191]
synonym: "neoplasm of Lip" EXACT [NCIT:C3191]
synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Lip" EXACT [NCIT:C3191]
synonym: "tumor of Lip" EXACT [NCIT:C3191]
synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Lip" EXACT [NCIT:C3191]
xref: NCIT:C3191 {source="MONDO:equivalentTo"}
xref: SCTID:126770008 {source="MONDO:equivalentTo"}
is_a: MONDO:0004748 {source="MONDO:Redundant", source="NCIT:C3191", source="linkedlifedata"} ! lip disease
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3191/inferred", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023761
property_value: exactMatch http://identifiers.org/snomedct/126770008
property_value: exactMatch NCIT:C3191

[Term]
id: MONDO:0021250
name: tonsil neoplasm
def: "A neoplasm (disease) that involves the tonsil." [MONDO:patterns/location]
synonym: "neoplasm of the tonsil" EXACT [NCIT:C3417]
synonym: "neoplasm of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
synonym: "tonsil neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "tonsil tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
synonym: "tonsillar neoplasm" EXACT [NCIT:C3417]
synonym: "tonsillar neoplasms" EXACT [NCIT:C3417]
synonym: "tonsillar tumor" EXACT [NCIT:C3417]
synonym: "tumor of the tonsil" EXACT [NCIT:C3417]
synonym: "tumor of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
xref: NCIT:C3417 {source="MONDO:equivalentTo"}
xref: SCTID:127227003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3417/inferred"} ! pharynx neoplasm
is_a: MONDO:0044986 ! lymphoid system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0040422
property_value: exactMatch http://identifiers.org/snomedct/127227003
property_value: exactMatch NCIT:C3417

[Term]
id: MONDO:0021251
name: endometrium neoplasm
def: "A neoplasm (disease) that involves the endometrium." [MONDO:patterns/location]
synonym: "endometrial neoplasm" EXACT [NCIT:C3012]
synonym: "endometrial neoplasm" RELATED [NCIT:C3012]
synonym: "endometrial tumor" EXACT [NCIT:C3012]
synonym: "endometrium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endometrium tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3012]
synonym: "neoplasm of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012]
synonym: "neoplasm of the endometrium" EXACT [NCIT:C3012]
synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the endometrium" EXACT [NCIT:C3012]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016889 {source="MONDO:equivalentTo"}
xref: NCIT:C3012 {source="MONDO:equivalentTo"}
xref: SCTID:123844007 {source="MONDO:equivalentTo"}
is_a: MONDO:0000931 ! endometrial disease
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3012/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tumor of uterus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014170
property_value: exactMatch http://identifiers.org/mesh/D016889
property_value: exactMatch http://identifiers.org/snomedct/123844007
property_value: exactMatch NCIT:C3012

[Term]
id: MONDO:0021252
name: obsolete lung hilum neoplasm
is_obsolete: true
replaced_by: MONDO:0003639

[Term]
id: MONDO:0021253
name: gallbladder neoplasm
def: "A neoplasm (disease) that involves the gall bladder." [MONDO:patterns/location]
synonym: "gall bladder neoplasm" EXACT []
synonym: "gall bladder neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gall bladder tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "gallbladder tumor" EXACT [NCIT:C3048]
synonym: "neoplasm of gall bladder" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of gallbladder" EXACT [NCIT:C3048]
synonym: "neoplasm of the gallbladder" EXACT [NCIT:C3048]
synonym: "tumor of gall bladder" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of gallbladder" EXACT [NCIT:C3048]
synonym: "tumor of the gallbladder" EXACT [NCIT:C3048]
xref: NCIT:C3048 {source="MONDO:equivalentTo"}
xref: UMLS:C0016978 {source="MONDO:equivalentTo", source="NCIT:C3048", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C3048"} ! hepatobiliary neoplasm
is_a: MONDO:0005281 {source="MONDO:Redundant", source="NCIT:C3048"} ! gallbladder disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016978
property_value: exactMatch NCIT:C3048

[Term]
id: MONDO:0021254
name: corpus uteri neoplasm
alt_id: MONDO:0021255
alt_id: MONDO:0021256
def: "A neoplasm (disease) that involves the body of uterus." [MONDO:patterns/location]
synonym: "body of uterus neoplasm" EXACT []
synonym: "body of uterus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "body of uterus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "corpus uteri tumor" EXACT [NCIT:C6300]
synonym: "neoplasm of body of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C6300]
synonym: "neoplasm of corpus uteri" EXACT [NCIT:C6300]
synonym: "neoplasm of the body of uterus" EXACT [NCIT:C6300]
synonym: "neoplasm of the corpus uteri" EXACT [NCIT:C6300]
synonym: "neoplasm of the uterine body" EXACT [NCIT:C6300]
synonym: "neoplasm of the uterine corpus" EXACT [NCIT:C6300]
synonym: "neoplasm of uterine body" EXACT [NCIT:C6300]
synonym: "neoplasm of uterine corpus" EXACT [NCIT:C6300]
synonym: "tumor of body of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of corpus uteri" EXACT [NCIT:C6300]
synonym: "tumor of the corpus uteri" EXACT [NCIT:C6300]
synonym: "tumor of the uterine body" EXACT [NCIT:C6300]
synonym: "tumor of the uterine corpus" EXACT [NCIT:C6300]
synonym: "tumor of uterine body" EXACT [NCIT:C6300]
synonym: "tumor of uterine corpus" EXACT [NCIT:C6300]
synonym: "uterine body neoplasm" EXACT [NCIT:C6300]
synonym: "uterine body tumor" EXACT [NCIT:C6300]
synonym: "uterine corpus neoplasm" EXACT [NCIT:C6300]
synonym: "uterine corpus tumor" EXACT [NCIT:C6300]
xref: NCIT:C6300 {source="MONDO:equivalentTo"}
xref: SCTID:126909004 {source="MONDO:equivalentTo"}
xref: UMLS:C1263777 {source="NCIT:C6300", source="MONDO:equivalentTo"}
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C6300", source="linkedlifedata"} ! tumor of uterus
property_value: exactMatch http://identifiers.org/snomedct/126909004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263777
property_value: exactMatch NCIT:C6300

[Term]
id: MONDO:0021257
name: glomus jugulare neoplasm
def: "A neoplasm (disease) that involves the jugular body." [MONDO:patterns/location]
comment: Editor note: consider merging with jugulotympanic paraganglioma
synonym: "jugular body neoplasm" EXACT []
synonym: "jugular body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jugular body tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of jugular body" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of jugular body" EXACT [MONDO:patterns/neoplasm]
is_a: MONDO:0004634 ! vein disease
is_a: MONDO:0021080 ! blood vessel neoplasm
is_a: MONDO:0021351 ! neoplasm of neck

[Term]
id: MONDO:0021258
name: choroid neoplasm
def: "A neoplasm (disease) that involves the optic choroid." [MONDO:patterns/location]
synonym: "choroid tumor" EXACT [NCIT:C2949]
synonym: "choroidal neoplasm" EXACT [NCIT:C2949]
synonym: "choroidal tumor" EXACT [NCIT:C2949]
synonym: "neoplasm of choroid" EXACT [NCIT:C2949]
synonym: "neoplasm of optic choroid" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the choroid" EXACT [NCIT:C2949]
synonym: "optic choroid neoplasm" EXACT []
synonym: "optic choroid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "optic choroid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of choroid" EXACT [NCIT:C2949]
synonym: "tumor of optic choroid" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the choroid" EXACT [NCIT:C2949]
xref: NCIT:C2949 {source="MONDO:equivalentTo"}
is_a: MONDO:0001898 {source="MONDO:Redundant", source="NCIT:C2949"} ! optic choroid disease
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C2949"} ! uvea neoplasm
is_a: MONDO:0024296 ! vascular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008523
property_value: exactMatch NCIT:C2949

[Term]
id: MONDO:0021259
name: prostate neoplasm
alt_id: MONDO:0001659
def: "A neoplasm (disease) that involves the prostate gland." [MONDO:patterns/location]
synonym: "neoplasm of prostate" EXACT [NCIT:C3343]
synonym: "neoplasm of prostate gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the prostate" EXACT [NCIT:C3343]
synonym: "nodular prostate" RELATED []
synonym: "prostate gland neoplasm" EXACT []
synonym: "prostate gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "prostate nodule" RELATED []
synonym: "prostate tumor" EXACT [NCIT:C3343]
synonym: "tumor of prostate" EXACT [NCIT:C3343]
synonym: "tumor of prostate gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the prostate" EXACT [NCIT:C3343]
xref: DOID:13206 {source="MONDO:equivalentTo"}
xref: ICD10:N40 {source="DOID:13206"}
xref: ICD9:600.1 {source="DOID:13206"}
xref: NCIT:C3343 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PROSTATE {source="MONDO:equivalentTo"}
is_a: MONDO:0003105 {source="DOID:13206/inferred", source="MONDO:Redundant", source="NCIT:C3343"} ! prostate disease
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3343/inferred"} ! reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033572
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033578
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0748012
property_value: closeMatch NCIT:C12410
property_value: exactMatch DOID:13206
property_value: exactMatch NCIT:C3343

[Term]
id: MONDO:0021260
name: sensory ganglionopathy
def: "A disease or disorder that involves the sensory ganglion." [MONDO:patterns/location]
synonym: "disease of sensory ganglion" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sensory ganglion" EXACT []
synonym: "disorder of sensory ganglion" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sensory ganglion" RELATED [MONDO:patterns/location_top]
synonym: "sensory ganglion disease" EXACT []
synonym: "sensory ganglion disease or disorder" EXACT [MONDO:patterns/location]
is_a: MONDO:0005071 ! nervous system disorder

[Term]
id: MONDO:0021271
name: villous adenoma of colon
def: "A villous adenoma that involves the colon." [MONDO:patterns/location]
synonym: "colon villous adenoma" EXACT [MONDO:patterns/location, NCIT:C3495]
synonym: "colonic villous adenoma" EXACT [NCIT:C3495]
synonym: "villous adenoma of the colon" EXACT [NCIT:C3495]
xref: NCIT:C3495 {source="MONDO:equivalentTo"}
xref: SCTID:309084001 {source="MONDO:equivalentTo"}
xref: UMLS:C0149862 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3495", source="MONDO:equivalentTo"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="MONDOLEX:0021271", source="NCIT:C3495/inferred"} ! villous adenoma
is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C3495"} ! colon adenoma
property_value: exactMatch http://identifiers.org/snomedct/309084001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149862
property_value: exactMatch NCIT:C3495

[Term]
id: MONDO:0021272
name: inherited orthostatic hypotension
xref: OMIMPS:223360 {source="MONDO:equivalentTo"}
is_a: MONDO:0015914 {source="MONDO:cjm"} ! primary orthostatic hypotension

[Term]
id: MONDO:0021273
name: leiomyoma of ciliary body
def: "A leiomyoma that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body leiomyoma" EXACT [MONDO:patterns/location, NCIT:C4560]
synonym: "leiomyoma of the ciliary body" EXACT [NCIT:C4560]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4560 {source="MONDO:equivalentTo"}
xref: SCTID:255020006 {source="MONDO:equivalentTo"}
xref: UMLS:C0346386 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4560", source="MONDO:equivalentTo"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C4560", source="linkedlifedata"} ! leiomyoma
is_a: MONDO:0021486 {source="MONDO:Redundant", source="NCIT:C4560", source="linkedlifedata"} ! benign neoplasm of ciliary body
property_value: exactMatch http://identifiers.org/snomedct/255020006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346386
property_value: exactMatch NCIT:C4560

[Term]
id: MONDO:0021275
name: papilloma of eyelid
def: "A papilloma that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid papilloma" EXACT [MONDO:patterns/location, NCIT:C4061]
synonym: "papilloma of the eyelid" EXACT [NCIT:C4061]
xref: NCIT:C4061 {source="MONDO:equivalentTo"}
xref: SCTID:314515006 {source="MONDO:equivalentTo"}
xref: UMLS:C1142491 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4061"}
is_a: MONDO:0002536 ! skin papilloma
is_a: MONDO:0021605 {source="MONDO:Redundant", source="NCIT:C4061", source="linkedlifedata"} ! benign eyelid neoplasm
property_value: exactMatch http://identifiers.org/snomedct/314515006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1142491
property_value: exactMatch NCIT:C4061

[Term]
id: MONDO:0021276
name: papilloma of buccal mucosa
def: "A papilloma that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "buccal mucosa papilloma" EXACT [MONDO:patterns/location, NCIT:C5819]
synonym: "papilloma of the buccal mucosa" EXACT [NCIT:C5819]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5819 {source="MONDO:equivalentTo"}
xref: SCTID:448147005 {source="MONDO:equivalentTo"}
xref: UMLS:C1332641 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5819", source="MONDO:equivalentTo"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C5819/inferred"} ! papilloma
is_a: MONDO:0021524 {source="MONDO:Redundant", source="NCIT:C5819", source="linkedlifedata"} ! benign neoplasm of buccal mucosa
property_value: exactMatch http://identifiers.org/snomedct/448147005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332641
property_value: exactMatch NCIT:C5819

[Term]
id: MONDO:0021279
name: mucoepidermoid carcinoma of submandibular gland
def: "A mucoepidermoid carcinoma that involves the submandibular gland." [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of the submandibular gland" EXACT [NCIT:C5939]
synonym: "submandibular gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5939]
xref: NCIT:C5939 {source="MONDO:equivalentTo"}
xref: SCTID:423424005 {source="MONDO:equivalentTo"}
xref: UMLS:C1336524 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5939", source="MONDO:equivalentTo"}
is_a: MONDO:0004724 {source="MONDO:Redundant", source="MONDOLEX:0021279", source="NCIT:C5939", source="linkedlifedata", source="linkedlifedata/inferred"} ! submandibular gland cancer
is_a: MONDO:0006286 {source="MONDO:Redundant", source="NCIT:C5939"} ! major salivary gland mucoepidermoid carcinoma
property_value: exactMatch http://identifiers.org/snomedct/423424005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336524
property_value: exactMatch NCIT:C5939

[Term]
id: MONDO:0021280
name: mucoepidermoid carcinoma of parotid gland
def: "A mucoepidermoid carcinoma that involves the parotid gland." [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of parotid" EXACT [NCIT:C5938]
synonym: "mucoepidermoid carcinoma of the parotid" EXACT [NCIT:C5938]
synonym: "mucoepidermoid carcinoma of the parotid gland" EXACT [NCIT:C5938]
synonym: "parotid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5938]
synonym: "parotid mucoepidermoid carcinoma" EXACT [NCIT:C5938]
xref: NCIT:C5938 {source="MONDO:equivalentTo"}
xref: SCTID:423793008 {source="MONDO:equivalentTo"}
xref: UMLS:C1335363 {source="NCIT:C5938", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006286 {source="MONDO:Redundant", source="NCIT:C5938"} ! major salivary gland mucoepidermoid carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5938"} ! carcinoma of parotid gland
property_value: exactMatch http://identifiers.org/snomedct/423793008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335363
property_value: exactMatch NCIT:C5938

[Term]
id: MONDO:0021281
name: cavernous hemangioma of retina
def: "A cavernous hemangioma that involves the retina." [MONDO:patterns/location]
synonym: "cavernous angioma of retina" EXACT [NCIT:C4921]
synonym: "cavernous angioma of the retina" EXACT [NCIT:C4921]
synonym: "cavernous hemangioma of the retina" EXACT [NCIT:C4921]
synonym: "retina cavernous angioma" EXACT [NCIT:C4921]
synonym: "retina cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C4921]
synonym: "retinal cavernous angioma" EXACT [NCIT:C4921]
synonym: "retinal cavernous hemangioma" EXACT [NCIT:C4921]
xref: NCIT:C4921 {source="MONDO:equivalentTo"}
xref: SCTID:312937006 {source="MONDO:equivalentTo"}
xref: UMLS:C0730304 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4921"}
is_a: MONDO:0003645 ! cavernous hemangioma of face
is_a: MONDO:0021541 {source="MONDO:Redundant", source="MONDOLEX:0021281", source="NCIT:C4921", source="linkedlifedata"} ! hemangioma of retina
property_value: exactMatch http://identifiers.org/snomedct/312937006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730304
property_value: exactMatch NCIT:C4921

[Term]
id: MONDO:0021282
name: malignant teratoma of testis
def: "A malignant teratoma that involves the testis." [MONDO:patterns/location]
synonym: "immature teratoma of testis" EXACT [NCIT:C6353]
synonym: "immature teratoma of the testis" EXACT [NCIT:C6353]
synonym: "immature testicular teratoma" EXACT [NCIT:C6353]
synonym: "malignant teratoma of the testis" EXACT [NCIT:C6353]
synonym: "malignant testicular teratoma" EXACT [NCIT:C6353]
synonym: "testicular immature teratoma" EXACT [NCIT:C6353]
synonym: "testicular malignant teratoma" EXACT [NCIT:C6353]
synonym: "testis malignant teratoma" EXACT [MONDO:patterns/location]
xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6353 {source="MONDO:equivalentTo"}
xref: SCTID:416769008 {source="MONDO:equivalentTo"}
xref: UMLS:C1334154 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6353", source="MONDO:equivalentTo"}
is_a: MONDO:0003510 ! malignant testicular germ cell tumor
is_a: MONDO:0003514 ! malignant teratoma
property_value: exactMatch http://identifiers.org/snomedct/416769008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334154
property_value: exactMatch NCIT:C6353

[Term]
id: MONDO:0021283
name: malignant teratoma of mediastinum
def: "A malignant teratoma that involves the mediastinum." [MONDO:patterns/location]
synonym: "immature malignant teratoma of mediastinum" EXACT [NCIT:C4668]
synonym: "immature malignant teratoma of the mediastinum" EXACT [NCIT:C4668]
synonym: "malignant mediastinal teratoma" EXACT [NCIT:C4668]
synonym: "malignant teratoma of the mediastinum" EXACT [NCIT:C4668]
synonym: "mediastinal immature malignant teratoma" EXACT [NCIT:C4668]
synonym: "mediastinum malignant teratoma" EXACT [MONDO:patterns/location]
xref: NCIT:C4668 {source="MONDO:equivalentTo"}
xref: SCTID:278042005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349663 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4668"}
is_a: MONDO:0003514 ! malignant teratoma
is_a: MONDO:0003518 ! mediastinum teratoma
is_a: MONDO:0003578 ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C4668", source="linkedlifedata"} ! mediastinal malignant germ cell tumor
property_value: exactMatch http://identifiers.org/snomedct/278042005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349663
property_value: exactMatch NCIT:C4668

[Term]
id: MONDO:0021284
name: carcinoma in situ of ureter
def: "A in situ carcinoma that involves the ureter." [MONDO:patterns/location]
synonym: "carcinoma in situ of the ureter" EXACT [NCIT:C4529]
synonym: "carcinoma in situ of ureter" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 ureter carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of the ureter" EXACT [NCIT:C4529]
synonym: "stage 0is carcinoma of ureter" EXACT [NCIT:C4529]
synonym: "stage 0is ureter cancer" EXACT [NCIT:C4529]
synonym: "stage 0is ureter cancer aJCC v7" EXACT [NCIT:C4529]
synonym: "stage 0is ureter carcinoma" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial cancer" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial carcinoma" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial carcinoma aJCC v7" EXACT [NCIT:C4529]
synonym: "stage 0is ureteral carcinoma" EXACT [NCIT:C4529]
synonym: "ureter cancer stage 0is" EXACT [NCIT:C4529]
synonym: "ureter carcinoma in situ" EXACT [NCIT:C4529]
synonym: "ureter in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "ureteral carcinoma in situ" EXACT [NCIT:C4529]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4529 {source="MONDO:equivalentTo"}
xref: SCTID:92782006 {source="MONDO:equivalentTo"}
xref: UMLS:C0346267 {source="NCIT:C4529", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="MONDOLEX:0021284", source="NCIT:C4529/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0006481 {source="MONDO:Redundant", source="MONDOLEX:0021284", source="NCIT:C4529/inferred"} ! ureter carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92782006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346267
property_value: exactMatch NCIT:C4529

[Term]
id: MONDO:0021285
name: carcinoma in situ of urethra
def: "A in situ carcinoma that involves the urethra." [MONDO:patterns/location]
synonym: "carcinoma in situ of the urethra" EXACT [NCIT:C4531]
synonym: "carcinoma in situ of urethra" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 urethra carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of the urethra" EXACT [NCIT:C4531]
synonym: "stage 0is carcinoma of urethra" EXACT [NCIT:C4531]
synonym: "stage 0is urethra carcinoma" EXACT [NCIT:C4531]
synonym: "stage 0is urethral cancer" EXACT [NCIT:C4531]
synonym: "stage 0is urethral cancer aJCC v7" EXACT [NCIT:C4531]
synonym: "stage 0is urethral carcinoma" EXACT [NCIT:C4531]
synonym: "urethra carcinoma in situ" EXACT [NCIT:C4531]
synonym: "urethra in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral carcinoma in situ" EXACT [NCIT:C4531]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4531 {source="MONDO:equivalentTo"}
xref: SCTID:92784007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346280 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4531"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="MONDOLEX:0021285", source="NCIT:C4531", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="MONDOLEX:0021285", source="NCIT:C4531/inferred"} ! carcinoma of urethra
property_value: exactMatch http://identifiers.org/snomedct/92784007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346280
property_value: exactMatch NCIT:C4531

[Term]
id: MONDO:0021287
name: carcinoma in situ of epiglottis
def: "A in situ carcinoma that involves the epiglottis." [MONDO:patterns/location]
synonym: "carcinoma in situ of epiglottis" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the Epiglottis" EXACT [NCIT:C4592]
synonym: "epiglottic carcinoma in situ" EXACT [NCIT:C4592]
synonym: "Epiglottis carcinoma in situ" EXACT [NCIT:C4592]
synonym: "epiglottis carcinoma in situ" EXACT []
synonym: "epiglottis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 epiglottic carcinoma" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v6" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v7" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v8" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic throat cancer" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: NCIT:C4592 {source="MONDO:equivalentTo"}
xref: SCTID:92584005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347103 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4592", source="MONDO:equivalentTo"}
is_a: MONDO:0004473 ! epiglottis cancer
is_a: MONDO:0004696 {source="MONDO:Redundant", source="NCIT:C4592/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! larynx carcinoma in situ
is_a: MONDO:0021288 {source="MONDO:Redundant", source="linkedlifedata"} ! carcinoma in situ of hypopharynx
property_value: exactMatch http://identifiers.org/snomedct/92584005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347103
property_value: exactMatch NCIT:C4592

[Term]
id: MONDO:0021288
name: carcinoma in situ of hypopharynx
def: "A in situ carcinoma that involves the hypopharynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of hypopharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the hypopharynx" EXACT [NCIT:C9101]
synonym: "hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101]
synonym: "hypopharynx carcinoma in situ" EXACT [NCIT:C9101]
synonym: "hypopharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of hypopharynx" EXACT [NCIT:C9101]
synonym: "stage 0 carcinoma of the hypopharynx" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal cancer" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal throat cancer" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9101]
xref: NCIT:C9101 {source="MONDO:equivalentTo"}
xref: SCTID:92612007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347100 {source="NCIT:C9101", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C4331310 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="MONDOLEX:0021288", source="NCIT:C9101", source="linkedlifedata"} ! pharynx carcinoma in situ
is_a: MONDO:0005216 {source="MONDO:Redundant", source="MONDOLEX:0021288", source="NCIT:C9101/inferred"} ! hypopharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92612007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4331310
property_value: exactMatch NCIT:C9101

[Term]
id: MONDO:0021289
name: carcinoma in situ of cecum
def: "A in situ carcinoma that involves the caecum." [MONDO:patterns/location]
synonym: "caecum carcinoma in situ" EXACT []
synonym: "caecum in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of caecum" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the cecum" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ aJCC v6" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ aJCC v7" EXACT [NCIT:C4594]
synonym: "stage 0 caecum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 cecum carcinoma" EXACT [NCIT:C4594]
xref: NCIT:C4594 {source="MONDO:equivalentTo"}
xref: SCTID:92559007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347126 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4594", source="MONDO:equivalentTo"}
is_a: MONDO:0004663 ! colon carcinoma in situ
is_a: MONDO:0006029 {source="MONDO:Redundant", source="MONDOLEX:0021289", source="NCIT:C4594"} ! cecum carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92559007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347126
property_value: exactMatch NCIT:C4594

[Term]
id: MONDO:0021290
name: carcinoma in situ of appendix
def: "A in situ carcinoma that involves the vermiform appendix." [MONDO:patterns/location]
synonym: "carcinoma in situ of the appendix" EXACT [NCIT:C4593]
synonym: "carcinoma in situ of vermiform appendix" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 appendix cancer" EXACT [NCIT:C4593]
synonym: "stage 0 appendix carcinoma" EXACT [NCIT:C4593]
synonym: "stage 0 appendix carcinoma aJCC v7" EXACT [NCIT:C4593]
synonym: "stage 0 vermiform appendix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "vermiform appendix carcinoma in situ" EXACT []
synonym: "vermiform appendix in situ carcinoma" EXACT [MONDO:patterns/location]
xref: NCIT:C4593 {source="MONDO:equivalentTo"}
xref: SCTID:92539008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347125 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4593", source="MONDO:equivalentTo"}
is_a: MONDO:0003196 {source="MONDO:Redundant", source="MONDOLEX:0021290", source="NCIT:C4593/inferred"} ! appendix carcinoma
is_a: MONDO:0021289 ! carcinoma in situ of cecum
property_value: exactMatch http://identifiers.org/snomedct/92539008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347125
property_value: exactMatch NCIT:C4593

[Term]
id: MONDO:0021291
name: carcinoma in situ of fundus of stomach
def: "A in situ carcinoma that involves the fundus of stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of fundus of stomach" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of gastric fundus" EXACT [NCIT:C4429]
synonym: "carcinoma in situ of the fundus of the stomach" EXACT [NCIT:C4429]
synonym: "carcinoma in situ of the gastric fundus" EXACT [NCIT:C4429]
synonym: "fundus of stomach carcinoma in situ" EXACT []
synonym: "fundus of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric fundus carcinoma in situ" EXACT [NCIT:C4429]
synonym: "gastric fundus carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4429]
synonym: "stage 0 fundus of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric fundus carcinoma" EXACT [NCIT:C4429]
xref: NCIT:C4429 {source="MONDO:equivalentTo"}
xref: SCTID:92598002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345800 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4429"}
is_a: MONDO:0003970 {source="MONDO:Redundant", source="MONDOLEX:0021291", source="NCIT:C4429"} ! gastric fundus carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="MONDOLEX:0021291", source="NCIT:C4429", source="linkedlifedata"} ! stomach carcinoma in situ
property_value: exactMatch http://identifiers.org/snomedct/92598002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345800
property_value: exactMatch NCIT:C4429

[Term]
id: MONDO:0021292
name: carcinoma in situ of gastric body
def: "A in situ carcinoma that involves the body of stomach." [MONDO:patterns/location]
synonym: "body of stomach carcinoma in situ" EXACT []
synonym: "body of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of body of stomach" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4430]
synonym: "carcinoma in situ of the body of the stomach" EXACT [NCIT:C4430]
synonym: "carcinoma in situ of the gastric body" EXACT [NCIT:C4430]
synonym: "gastric body carcinoma in situ" EXACT [NCIT:C4430]
synonym: "gastric body carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4430]
synonym: "stage 0 body of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric body carcinoma" EXACT [NCIT:C4430]
xref: NCIT:C4430 {source="MONDO:equivalentTo"}
xref: SCTID:92549006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345805 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4430", source="MONDO:equivalentTo"}
is_a: MONDO:0003972 {source="MONDO:Redundant", source="MONDOLEX:0021292", source="NCIT:C4430"} ! gastric body carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="MONDOLEX:0021292", source="NCIT:C4430", source="linkedlifedata"} ! stomach carcinoma in situ
property_value: exactMatch http://identifiers.org/snomedct/92549006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345805
property_value: exactMatch NCIT:C4430

[Term]
id: MONDO:0021294
name: carcinoma in situ of gastric cardia
def: "A in situ carcinoma that involves the cardia of stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of cardia of stomach" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4428]
synonym: "carcinoma in situ of the cardia of the stomach" EXACT [NCIT:C4428]
synonym: "carcinoma in situ of the gastric cardia" EXACT [NCIT:C4428]
synonym: "cardia of stomach carcinoma in situ" EXACT []
synonym: "cardia of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric cardia carcinoma in situ" EXACT [NCIT:C4428]
synonym: "gastric cardia carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4428]
synonym: "stage 0 cardia of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric cardia carcinoma" EXACT [NCIT:C4428]
xref: NCIT:C4428 {source="MONDO:equivalentTo"}
xref: SCTID:92560002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345795 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4428"}
is_a: MONDO:0003834 {source="MONDO:Redundant", source="MONDOLEX:0021294", source="NCIT:C4428"} ! gastric cardia carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="MONDOLEX:0021294", source="NCIT:C4428", source="linkedlifedata"} ! stomach carcinoma in situ
property_value: exactMatch http://identifiers.org/snomedct/92560002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345795
property_value: exactMatch NCIT:C4428

[Term]
id: MONDO:0021296
name: carcinoma in situ of renal pelvis
def: "A in situ carcinoma that involves the renal pelvis." [MONDO:patterns/location]
synonym: "carcinoma in situ of kidney pelvis" EXACT [NCIT:C4597]
synonym: "carcinoma in situ of renal pelvis" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the kidney pelvis" EXACT [NCIT:C4597]
synonym: "carcinoma in situ of the renal pelvis" EXACT [NCIT:C4597]
synonym: "kidney pelvis carcinoma in situ" EXACT [NCIT:C4597]
synonym: "renal pelvis carcinoma in situ" EXACT [NCIT:C4597]
synonym: "renal pelvis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 renal pelvis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of kidney pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of renal pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of the kidney pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of the renal pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is kidney pelvis carcinoma" EXACT [NCIT:C4597]
synonym: "stage 0is kidney renal pelvis urothelial cancer" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis cancer" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis cancer aJCC v7" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis urothelial carcinoma" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis urothelial carcinoma aJCC v7" EXACT [NCIT:C4597]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4597 {source="MONDO:equivalentTo"}
xref: SCTID:92697000 {source="MONDO:equivalentTo"}
xref: UMLS:C0347184 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4597"}
is_a: MONDO:0004732 {source="MONDO:Redundant", source="MONDOLEX:0021296", source="linkedlifedata"} ! kidney carcinoma in situ
is_a: MONDO:0005519 {source="MONDO:Redundant", source="MONDOLEX:0021296", source="NCIT:C4597/inferred"} ! renal pelvis carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92697000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347184
property_value: exactMatch NCIT:C4597

[Term]
id: MONDO:0021297
name: carcinoma in situ of nasopharynx
def: "A in situ carcinoma that involves the nasopharynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of nasopharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the nasopharynx" EXACT [NCIT:C9099]
synonym: "nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099]
synonym: "nasopharynx carcinoma in situ" EXACT []
synonym: "nasopharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of nasopharynx" EXACT [NCIT:C9099]
synonym: "stage 0 carcinoma of the nasopharynx" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal cancer" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal throat cancer" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9099]
xref: NCIT:C9099 {source="MONDO:equivalentTo"}
xref: SCTID:92664001 {source="MONDO:equivalentTo"}
xref: UMLS:C0347096 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9099"}
xref: UMLS:C4331312 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="MONDOLEX:0021297", source="NCIT:C9099", source="linkedlifedata"} ! pharynx carcinoma in situ
is_a: MONDO:0015459 {source="MONDO:Redundant", source="MONDOLEX:0021297", source="NCIT:C9099/inferred"} ! nasopharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92664001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347096
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4331312
property_value: exactMatch NCIT:C9099

[Term]
id: MONDO:0021298
name: carcinoma in situ of oropharynx
def: "A in situ carcinoma that involves the oropharynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of oropharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the oropharynx" EXACT [NCIT:C4590]
synonym: "oropharyngeal cancer stage 0" EXACT [NCIT:C4590]
synonym: "oropharyngeal carcinoma in situ" EXACT [NCIT:C4590]
synonym: "oropharynx carcinoma in situ" EXACT [NCIT:C4590]
synonym: "oropharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of oropharynx" EXACT [NCIT:C4590]
synonym: "stage 0 carcinoma of the oropharynx" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal cancer" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v6" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v6 and v7" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v7" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma in situ" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal throat cancer" EXACT [NCIT:C4590]
synonym: "stage 0 oropharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4590]
xref: NCIT:C4590 {source="MONDO:equivalentTo"}
xref: SCTID:92668003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347099 {source="NCIT:C4590", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="MONDOLEX:0021298", source="NCIT:C4590", source="linkedlifedata"} ! pharynx carcinoma in situ
is_a: MONDO:0044926 ! oropharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92668003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347099
property_value: exactMatch NCIT:C4590

[Term]
id: MONDO:0021299
name: carcinoma in situ of extrahepatic bile duct
def: "A in situ carcinoma that involves the extrahepatic bile duct." [MONDO:patterns/location]
synonym: "carcinoma in situ of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of extrahepatic bile ducts" EXACT [NCIT:C4442]
synonym: "carcinoma in situ of extrahepatic biliary ducts" EXACT [NCIT:C4442]
synonym: "carcinoma in situ of the extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct cancer stage 0" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct carcinoma in situ" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "extrahepatic biliary duct carcinoma in situ" EXACT [NCIT:C4442]
synonym: "stage 0 carcinoma of extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "stage 0 carcinoma of the extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct cancer" EXACT [NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct carcinoma in situ" EXACT [NCIT:C4442]
xref: NCIT:C4442 {source="MONDO:equivalentTo"}
xref: SCTID:92589000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345914 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4442"}
is_a: MONDO:0000374 ! bile duct carcinoma in situ
is_a: MONDO:0003090 ! extrahepatic bile duct carcinoma
property_value: exactMatch http://identifiers.org/snomedct/92589000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345914
property_value: exactMatch NCIT:C4442

[Term]
id: MONDO:0021300
name: adenoid cystic carcinoma of oropharynx
def: "A adenoid cystic carcinoma that involves the oropharynx." [MONDO:patterns/location]
synonym: "adenoid cystic carcinoma of the oropharynx" EXACT [NCIT:C6241]
synonym: "oropharyngeal adenoid cystic carcinoma" EXACT [NCIT:C6241]
synonym: "oropharyngeal throat adenoid cystic cancer" EXACT [NCIT:C6241]
synonym: "oropharynx adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: NCIT:C6241 {source="MONDO:equivalentTo"}
xref: SCTID:423318000 {source="MONDO:equivalentTo"}
xref: UMLS:C1335139 {source="NCIT:C6241", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="MONDOLEX:0021300", source="NCIT:C6241/inferred"} ! adenoid cystic carcinoma
is_a: MONDO:0044926 ! oropharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/423318000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335139
property_value: exactMatch NCIT:C6241

[Term]
id: MONDO:0021301
name: adenoma of nipple
def: "A adenoma that involves the nipple." [MONDO:patterns/location]
synonym: "adenoma of the nipple" EXACT [NCIT:C4192]
synonym: "nipple adenoma" EXACT [MONDO:patterns/location, NCIT:C4192]
synonym: "papillomatosis, subareolar duct" EXACT [NCIT:C4192]
synonym: "subareolar duct papillomatosis" EXACT [NCIT:C4192]
xref: ICDO:8506/0 {source="NCIT:C4192"}
xref: NCIT:C4192 {source="MONDO:equivalentTo"}
xref: SCTID:302829009 {source="MONDO:equivalentTo"}
xref: UMLS:C0334378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4192"}
is_a: MONDO:0002058 ! breast adenoma
is_a: MONDO:0002482 {source="MONDO:Redundant", source="NCIT:C4192/inferred"} ! nipple neoplasm
property_value: exactMatch http://identifiers.org/snomedct/302829009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334378
property_value: exactMatch NCIT:C4192

[Term]
id: MONDO:0021303
name: adenoma of small intestine
def: "A adenoma that involves the small intestine." [MONDO:patterns/location]
synonym: "adenoma of small bowel" EXACT [NCIT:C5340]
synonym: "adenoma of the small bowel" EXACT [NCIT:C5340]
synonym: "adenoma of the small intestine" EXACT [NCIT:C5340]
synonym: "small bowel adenoma" EXACT [NCIT:C5340]
synonym: "small intestinal adenoma" EXACT [NCIT:C5340]
synonym: "small intestine adenoma" EXACT [MONDO:patterns/location]
xref: NCIT:C5340 {source="MONDO:equivalentTo"}
xref: SCTID:399422005 {source="MONDO:equivalentTo"}
xref: UMLS:C1302392 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5340", source="MONDO:equivalentTo"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C5340", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine neoplasm
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C5340"} ! digestive system adenoma
property_value: exactMatch http://identifiers.org/snomedct/399422005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302392
property_value: exactMatch NCIT:C5340

[Term]
id: MONDO:0021309
name: malignant neoplasm of endocervix
def: "A cancer that involves the endocervix." [MONDO:patterns/location]
synonym: "cancer of endocervix" EXACT [MONDO:patterns/cancer]
synonym: "endocervix cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endocervical neoplasm" EXACT [NCIT:C3553]
synonym: "malignant endocervical tumor" EXACT [NCIT:C3553]
synonym: "malignant endocervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3553]
synonym: "malignant endocervix tumor" EXACT [NCIT:C3553]
synonym: "malignant neoplasm of endocervix" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the endocervix" EXACT [NCIT:C3553]
synonym: "malignant neoplasm of the uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant neoplasm of uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of the endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of the uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant uterine endocervix neoplasm" EXACT [NCIT:C3553]
synonym: "malignant uterine endocervix tumor" EXACT [NCIT:C3553]
xref: ICD10:C53.0 {source="MONDO:equivalentTo"}
xref: ICD9:180.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3553 {source="MONDO:equivalentTo"}
xref: SCTID:372097009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="MONDO:Redundant", source="MONDOLEX:0021309", source="NCIT:C3553", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervical cancer
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153569
property_value: exactMatch http://identifiers.org/snomedct/372097009
property_value: exactMatch NCIT:C3553

[Term]
id: MONDO:0021310
name: malignant tumor of neck
def: "A cancer that involves the neck." [MONDO:patterns/location]
synonym: "cancer of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "cancer of the neck" EXACT [NCIT:C4940]
synonym: "malignant neck neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "malignant neck tumor" EXACT [NCIT:C4940]
synonym: "malignant neoplasm of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "malignant neoplasm of the neck" EXACT [NCIT:C4940]
synonym: "malignant tumor of the neck" EXACT [NCIT:C4940]
synonym: "neck cancer" EXACT [MONDO:patterns/location, NCIT:C4940]
xref: NCIT:C4940 {source="MONDO:equivalentTo"}
xref: SCTID:363489000 {source="MONDO:equivalentTo"}
xref: UMLS:C0746787 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4940"}
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C4940"} ! head and neck cancer
is_a: MONDO:0021351 {source="MONDO:Redundant", source="NCIT:C4940", source="linkedlifedata"} ! neoplasm of neck
property_value: exactMatch http://identifiers.org/snomedct/363489000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0746787
property_value: exactMatch NCIT:C4940

[Term]
id: MONDO:0021311
name: malignant tumor of parathyroid gland
def: "A cancer that involves the parathyroid gland." [MONDO:patterns/location]
synonym: "cancer of parathyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parathyroid" EXACT [NCIT:C9322]
synonym: "malignant neoplasm of parathyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the parathyroid" EXACT [NCIT:C9322]
synonym: "malignant neoplasm of the parathyroid gland" EXACT [NCIT:C9322]
synonym: "malignant parathyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9322]
synonym: "malignant parathyroid gland tumor" EXACT [NCIT:C9322]
synonym: "malignant parathyroid neoplasm" EXACT [NCIT:C9322]
synonym: "malignant parathyroid tumor" EXACT [NCIT:C9322]
synonym: "malignant tumor of parathyroid" EXACT [NCIT:C9322]
synonym: "malignant tumor of the parathyroid" EXACT [NCIT:C9322]
synonym: "malignant tumor of the parathyroid gland" EXACT [NCIT:C9322]
synonym: "parathyroid cancer" EXACT [MONDO:patterns/location]
synonym: "parathyroid gland cancer" EXACT [MONDO:patterns/location]
xref: ICD9:194.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9322 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PTH {source="MONDO:equivalentTo"}
xref: SCTID:363481002 {source="MONDO:equivalentTo"}
is_a: MONDO:0021069 ! malignant endocrine neoplasm
is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C9322", source="linkedlifedata"} ! tumor of parathyroid gland
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153653
property_value: exactMatch http://identifiers.org/snomedct/363481002
property_value: exactMatch NCIT:C9322

[Term]
id: MONDO:0021312
name: malignant tumor of adrenal cortex
def: "A cancer that involves the adrenal cortex." [MONDO:patterns/location]
synonym: "adrenal cortex cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of adrenal cortex" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal cortex neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9327]
synonym: "malignant adrenal cortex tumor" EXACT [NCIT:C9327]
synonym: "malignant adrenocortical neoplasm" EXACT [NCIT:C9327]
synonym: "malignant adrenocortical tumor" EXACT [NCIT:C9327]
synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the adrenal cortex" EXACT [NCIT:C9327]
synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327]
xref: NCIT:C9327 {source="MONDO:equivalentTo"}
xref: SCTID:371964008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002817 {source="MONDO:Redundant", source="NCIT:C9327", source="linkedlifedata", source="linkedlifedata/inferred"} ! adrenal gland cancer
is_a: MONDO:0036591 ! adrenal cortex neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346402
property_value: exactMatch http://identifiers.org/snomedct/371964008
property_value: exactMatch NCIT:C9327

[Term]
id: MONDO:0021313
name: eyelid cancer
def: "A cancer that involves the eyelid." [MONDO:patterns/location]
synonym: "cancer of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "eyelid cancer" EXACT [MONDO:patterns/location]
synonym: "malignant eyelid neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6786]
synonym: "malignant eyelid tumor" EXACT [NCIT:C6786]
synonym: "malignant neoplasm of eyelid" EXACT [MONDO:patterns/cancer, NCIT:C6786]
synonym: "malignant neoplasm of the eyelid" EXACT [NCIT:C6786]
synonym: "malignant tumor of eyelid" EXACT [NCIT:C6786]
synonym: "malignant tumor of the eyelid" EXACT [NCIT:C6786]
xref: ICD9:173.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6786 {source="MONDO:equivalentTo"}
xref: SCTID:231829006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C6786", source="linkedlifedata"} ! eyelid neoplasm
is_a: MONDO:0002236 {source="MONDO:Redundant", source="MONDOLEX:0021313", source="NCIT:C6786"} ! ocular cancer
is_a: MONDO:0002898 ! skin cancer
property_value: exactMatch http://identifiers.org/snomedct/231829006
property_value: exactMatch NCIT:C6786

[Term]
id: MONDO:0021315
name: malignant tumor of nasopharynx
def: "A cancer that involves the nasopharynx." [MONDO:patterns/location]
synonym: "cancer of nasopharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant nasopharyngeal neoplasm" EXACT [NCIT:C9321]
synonym: "malignant nasopharyngeal tumor" EXACT [NCIT:C9321]
synonym: "malignant nasopharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of nasopharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the nasopharynx" EXACT [NCIT:C9321]
synonym: "malignant tumor of the nasopharynx" EXACT [NCIT:C9321]
synonym: "nasopharynx cancer" EXACT [MONDO:patterns/location]
xref: ICD9:147.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:147.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9321 {source="MONDO:equivalentTo"}
xref: SCTID:187692001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153392 {source="NCIT:C9321", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
xref: UMLS:C0238301 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0005375 {source="MONDO:Redundant", source="MONDOLEX:0021315", source="NCIT:C9321", source="linkedlifedata"} ! nasopharyngeal neoplasm
is_a: MONDO:0005517 ! pharynx cancer
property_value: exactMatch http://identifiers.org/snomedct/187692001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238301
property_value: exactMatch NCIT:C9321

[Term]
id: MONDO:0021316
name: malignant tumor of minor salivary gland
def: "A cancer that involves the minor salivary gland." [MONDO:patterns/location]
synonym: "cancer of minor salivary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant minor salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4410]
synonym: "malignant minor salivary gland tumor" EXACT [NCIT:C4410]
synonym: "malignant neoplasm of minor salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4410]
synonym: "malignant neoplasm of the minor salivary gland" EXACT [NCIT:C4410]
synonym: "malignant tumor of the minor salivary gland" EXACT [NCIT:C4410]
synonym: "minor salivary gland cancer" EXACT [MONDO:patterns/location]
xref: NCIT:C4410 {source="MONDO:equivalentTo"}
xref: SCTID:363485006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345614 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4410"}
is_a: MONDO:0004669 ! salivary gland cancer
is_a: MONDO:0004727 ! vestibule of mouth cancer
is_a: MONDO:0021370 {source="MONDO:Redundant", source="MONDOLEX:0021316", source="NCIT:C4410", source="linkedlifedata"} ! neoplasm of minor salivary gland
property_value: exactMatch http://identifiers.org/snomedct/363485006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345614
property_value: exactMatch NCIT:C4410

[Term]
id: MONDO:0021317
name: cancer of cerebellum
def: "A cancer that involves the cerebellum." [MONDO:patterns/location]
synonym: "cancer of cerebellum" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the cerebellum" EXACT [NCIT:C3569]
synonym: "cerebellar cancer" EXACT [NCIT:C3569]
synonym: "cerebellar neoplasm, malignant" EXACT [NCIT:C3569]
synonym: "cerebellar tumor, malignant" EXACT [NCIT:C3569]
synonym: "cerebellum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant cerebellar neoplasm" EXACT [NCIT:C3569]
synonym: "malignant cerebellar neoplasms" EXACT [NCIT:C3569]
synonym: "malignant cerebellar tumor" EXACT [NCIT:C3569]
synonym: "malignant cerebellum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cerebellum" EXACT [MONDO:patterns/cancer, NCIT:C3569]
synonym: "malignant neoplasm of the cerebellum" EXACT [NCIT:C3569]
synonym: "malignant tumor of cerebellum" EXACT [NCIT:C3569]
synonym: "malignant tumor of the cerebellum" EXACT [NCIT:C3569]
xref: ICD9:191.6 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3569 {source="MONDO:equivalentTo"}
xref: SCTID:449420002 {source="MONDO:equivalentTo"}
is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C3569/inferred", source="linkedlifedata"} ! brain cancer
is_a: MONDO:0002913 {source="MONDO:Redundant", source="NCIT:C3569", source="linkedlifedata"} ! cerebellar neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153640
property_value: exactMatch http://identifiers.org/snomedct/449420002
property_value: exactMatch NCIT:C3569

[Term]
id: MONDO:0021320
name: malignant tumor of floor of mouth
def: "A cancer that involves the mouth floor." [MONDO:patterns/location]
synonym: "cancer of mouth floor" EXACT [MONDO:patterns/cancer]
synonym: "malignant floor of mouth neoplasm" EXACT [NCIT:C9318]
synonym: "malignant floor of mouth tumor" EXACT [NCIT:C9318]
synonym: "malignant floor of the mouth neoplasm" EXACT [NCIT:C9318]
synonym: "malignant floor of the mouth tumor" EXACT [NCIT:C9318]
synonym: "malignant mouth floor neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of floor of mouth" EXACT [NCIT:C9318]
synonym: "malignant neoplasm of mouth floor" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the floor of the mouth" EXACT [NCIT:C9318]
synonym: "malignant tumor of the floor of the mouth" EXACT [NCIT:C9318]
synonym: "mouth floor cancer" EXACT [MONDO:patterns/location]
xref: ICD9:144.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:144.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C9318 {source="MONDO:equivalentTo"}
xref: SCTID:363385007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002516 ! digestive system cancer
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C9318/inferred"} ! head and neck cancer
is_a: MONDO:0021383 {source="MONDO:Redundant", source="NCIT:C9318", source="linkedlifedata"} ! neoplasm of floor of mouth
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153368
property_value: exactMatch http://identifiers.org/snomedct/363385007
property_value: exactMatch NCIT:C9318

[Term]
id: MONDO:0021321
name: malignant tumor of extrahepatic bile duct
def: "A cancer that involves the extrahepatic bile duct." [MONDO:patterns/location]
synonym: "cancer of extrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "extrahepatic bile duct cancer" EXACT [MONDO:patterns/location]
synonym: "malignant extrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7483]
synonym: "malignant extrahepatic bile duct tumor" EXACT [NCIT:C7483]
synonym: "malignant neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/cancer, NCIT:C7483]
synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [NCIT:C7483]
synonym: "malignant tumor of the extrahepatic bile duct" EXACT [NCIT:C7483]
xref: ICD9:156.1 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:156.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7483 {source="MONDO:equivalentTo"}
xref: SCTID:363416002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153453 {source="NCIT:C7483", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003059 ! bile duct cancer
is_a: MONDO:0021385 {source="MONDO:Redundant", source="MONDOLEX:0021321", source="NCIT:C7483", source="linkedlifedata"} ! extrahepatic bile duct neoplasm
property_value: exactMatch http://identifiers.org/snomedct/363416002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153453
property_value: exactMatch NCIT:C7483

[Term]
id: MONDO:0021322
name: malignant tumor of meninges
def: "A cancer that involves the meningeal cluster." [MONDO:patterns/location]
synonym: "cancer of meningeal cluster" EXACT [MONDO:patterns/cancer]
synonym: "cancer of meninges" EXACT [NCIT:C4628]
synonym: "cancer of the meninges" EXACT [NCIT:C4628]
synonym: "malignant meningeal cluster neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant meningeal neoplasms" EXACT [NCIT:C4628]
synonym: "malignant meningeal tumor" EXACT [NCIT:C4628]
synonym: "malignant meninges neoplasm" EXACT [NCIT:C4628]
synonym: "malignant meninges tumor" EXACT [NCIT:C4628]
synonym: "malignant neoplasm of meningeal cluster" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of meninges" EXACT [NCIT:C4628]
synonym: "malignant neoplasm of the meninges" EXACT [NCIT:C4628]
synonym: "malignant neoplasms of meninges" EXACT [NCIT:C4628]
synonym: "malignant tumor of the meninges" EXACT [NCIT:C4628]
synonym: "meningeal cancer" EXACT [NCIT:C4628]
synonym: "meningeal cluster cancer" EXACT [MONDO:patterns/location]
synonym: "meningeal tumors, malignant" EXACT [NCIT:C4628]
xref: NCIT:C4628 {source="MONDO:equivalentTo"}
xref: SCTID:363497007 {source="MONDO:equivalentTo"}
xref: UMLS:C0348375 {source="NCIT:C4628", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C4628", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer
is_a: MONDO:0016743 {source="MONDO:Redundant", source="MONDOLEX:0021322", source="NCIT:C4628", source="linkedlifedata"} ! tumor of meninges
property_value: exactMatch http://identifiers.org/snomedct/363497007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348375
property_value: exactMatch NCIT:C4628

[Term]
id: MONDO:0021323
name: malignant neoplasm of chest wall
def: "A cancer that involves the chest wall." [MONDO:patterns/location]
synonym: "cancer of chest wall" EXACT [MONDO:patterns/cancer]
synonym: "chest wall cancer" EXACT [MONDO:patterns/location]
synonym: "malignant chest wall neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4580]
synonym: "malignant chest wall tumor" EXACT [NCIT:C4580]
synonym: "malignant neoplasm of chest wall" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the chest wall" EXACT [NCIT:C4580]
synonym: "malignant tumor of chest wall" EXACT [NCIT:C4580]
synonym: "malignant tumor of the chest wall" EXACT [NCIT:C4580]
xref: NCIT:C4580 {source="MONDO:equivalentTo"}
xref: SCTID:712750007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346948 {source="NCIT:C4580", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003274 {source="MONDO:Redundant", source="NCIT:C4580", source="linkedlifedata"} ! thoracic cancer
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C4580", source="linkedlifedata"} ! neoplasm of chest wall
property_value: exactMatch http://identifiers.org/snomedct/712750007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346948
property_value: exactMatch NCIT:C4580

[Term]
id: MONDO:0021324
name: malignant neoplasm of abdominal esophagus
def: "A cancer that involves the abdominal part of esophagus." [MONDO:patterns/location]
synonym: "abdominal part of esophagus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of abdominal part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant abdominal part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of abdominal part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the abdominal esophagus" EXACT [NCIT:C4764]
synonym: "malignant tumor of the abdominal esophagus" EXACT [NCIT:C4764]
xref: ICD9:150.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4764 {source="MONDO:equivalentTo"}
xref: SCTID:187724003 {source="MONDO:equivalentTo"}
xref: UMLS:C0496775 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4764"}
is_a: MONDO:0007576 ! esophageal cancer
property_value: exactMatch http://identifiers.org/snomedct/187724003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496775
property_value: exactMatch NCIT:C4764

[Term]
id: MONDO:0021325
name: malignant neoplasm of thoracic esophagus
def: "A cancer that involves the thoracic part of esophagus." [MONDO:patterns/location]
synonym: "cancer of thoracic part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the thoracic esophagus" EXACT [NCIT:C3532]
synonym: "malignant neoplasm of thoracic part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant thoracic part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "thoracic part of esophagus cancer" EXACT [MONDO:patterns/location]
xref: ICD9:150.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3532 {source="MONDO:equivalentTo"}
xref: SCTID:187723009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153411 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3532"}
is_a: MONDO:0007576 ! esophageal cancer
property_value: exactMatch http://identifiers.org/snomedct/187723009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153411
property_value: exactMatch NCIT:C3532

[Term]
id: MONDO:0021326
name: malignant neoplasm of cervical esophagus
def: "A cancer that involves the cervical part of esophagus." [MONDO:patterns/location]
synonym: "cancer of cervical part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "cervical part of esophagus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant cervical part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cervical part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the cervical esophagus" EXACT [NCIT:C4763]
xref: ICD9:150.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4763 {source="MONDO:equivalentTo"}
xref: SCTID:187722004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496773 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4763"}
is_a: MONDO:0007576 ! esophageal cancer
property_value: exactMatch http://identifiers.org/snomedct/187722004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496773
property_value: exactMatch NCIT:C4763

[Term]
id: MONDO:0021327
name: carcinoma of urethra
def: "A carcinoma that involves the urethra." [MONDO:patterns/location]
synonym: "carcinoma of the urethra" EXACT [NCIT:C9106]
synonym: "carcinoma of urethra" EXACT [MONDO:patterns/carcinoma]
synonym: "urethra carcinoma" EXACT [MONDO:patterns/location, NCIT:C9106]
synonym: "urethral cancer" EXACT [NCIT:C9106]
synonym: "urethral carcinoma" EXACT [NCIT:C9106]
xref: NCIT:C9106 {source="MONDO:equivalentTo"}
xref: SCTID:448954003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004192 {source="MONDO:Redundant", source="MONDOLEX:0021327", source="NCIT:C9106", source="linkedlifedata"} ! urethra cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0021327", source="NCIT:C9106", source="linkedlifedata"} ! carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0700101
property_value: exactMatch http://identifiers.org/snomedct/448954003
property_value: exactMatch NCIT:C9106

[Term]
id: MONDO:0021329
name: carcinoma of soft palate
def: "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas." [NCIT:C8395]
synonym: "carcinoma of soft palate" EXACT [MONDO:patterns/carcinoma, NCIT:C8395]
synonym: "carcinoma of the soft palate" EXACT [NCIT:C8395]
synonym: "soft palate cancer" EXACT [NCIT:C8395]
synonym: "soft palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8395]
xref: NCIT:C8395 {source="MONDO:equivalentTo"}
xref: SCTID:254435009 {source="MONDO:equivalentTo"}
xref: UMLS:C0345555 {source="MONDO:equivalentTo", source="NCIT:C8395"}
is_a: MONDO:0004611 {source="MONDO:Redundant", source="MONDOLEX:0021329", source="NCIT:C8395", source="linkedlifedata", source="linkedlifedata/inferred"} ! soft palate cancer
is_a: MONDO:0044925 ! oral cavity carcinoma
is_a: MONDO:0044926 ! oropharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254435009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345555
property_value: exactMatch NCIT:C8395

[Term]
id: MONDO:0021331
name: carcinoma of parotid gland
def: "A carcinoma that involves the parotid gland." [MONDO:patterns/location]
synonym: "carcinoma of parotid" EXACT [NCIT:C6791]
synonym: "carcinoma of parotid gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the parotid" EXACT [NCIT:C6791]
synonym: "carcinoma of the parotid gland" EXACT [NCIT:C6791]
synonym: "parotid carcinoma" EXACT [NCIT:C6791]
synonym: "parotid gland cancer" EXACT [NCIT:C6791]
synonym: "parotid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6791]
xref: EFO:1000460 {source="MONDO:equivalentTo"}
xref: NCIT:C6791 {source="MONDO:equivalentTo"}
xref: SCTID:254462001 {source="MONDO:equivalentTo"}
xref: UMLS:C0345602 {source="NCIT:C6791", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C6791", source="linkedlifedata", source="linkedlifedata/inferred"} ! parotid gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C6791"} ! major salivary gland carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254462001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345602
property_value: exactMatch NCIT:C6791

[Term]
id: MONDO:0021333
name: carcinoma of lip
def: "A carcinoma that involves the lip." [MONDO:patterns/location]
synonym: "carcinoma of lip" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Lip" EXACT [NCIT:C3490]
synonym: "lip cancer" EXACT [NCIT:C3490]
synonym: "lip carcinoma" EXACT [MONDO:patterns/location, NCIT:C3490]
xref: NCIT:C3490 {source="MONDO:equivalentTo"}
xref: SCTID:269515006 {source="MONDO:equivalentTo"}
xref: UMLS:C0149637 {source="NCIT:C3490", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006834 {source="MONDO:Redundant", source="NCIT:C3490"} ! lip cancer
is_a: MONDO:0044925 ! oral cavity carcinoma
property_value: exactMatch http://identifiers.org/snomedct/269515006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149637
property_value: exactMatch NCIT:C3490

[Term]
id: MONDO:0021334
name: immunoproliferative disorder
def: "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." [MESH:D007160]
synonym: "Disorder, Immunoproliferative" RELATED [MESH:D007160, MSH:D007160]
synonym: "Disorders, Immunoproliferative" RELATED [MESH:D007160, MSH:D007160]
synonym: "Immunoproliferative disease" RELATED [UMLS:C0021070]
synonym: "Immunoproliferative Disorder" RELATED [MESH:D007160, MSH:D007160]
synonym: "Immunoproliferative disorder" RELATED [UMLS:C0021070]
synonym: "immunoproliferative disorder" EXACT []
synonym: "Immunoproliferative Disorders" RELATED [MSH:D007160]
xref: ICD9:203.80 {source="linkedlife"}
xref: MESH:D007160 {source="UMLS:C0021070", source="MONDO:equivalentTo"}
xref: SCTID:127071007 {source="UMLS:C0021070", source="MONDO:equivalentTo"}
xref: UMLS:C0021070 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="MESH:D007160"} ! immune system disease
property_value: closeMatch http://identifiers.org/snomedct/86295000
property_value: exactMatch http://identifiers.org/mesh/D007160
property_value: exactMatch http://identifiers.org/snomedct/127071007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021070

[Term]
id: MONDO:0021335
name: carcinoma of duodenum
def: "A carcinoma that involves the duodenum." [MONDO:patterns/location]
synonym: "cancer of duodenum" EXACT [NCIT:C4803]
synonym: "cancer of the duodenum" EXACT [NCIT:C4803]
synonym: "carcinoma of duodenum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the duodenum" EXACT [NCIT:C4803]
synonym: "duodenal cancer" EXACT [NCIT:C4803]
synonym: "duodenal carcinoma" EXACT [NCIT:C4803]
synonym: "duodenum carcinoma" EXACT [MONDO:patterns/location]
xref: NCIT:C4803 {source="MONDO:equivalentTo"}
xref: SCTID:254570009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000920 {source="MONDO:Redundant", source="NCIT:C4803", source="linkedlifedata", source="linkedlifedata/inferred"} ! duodenum cancer
is_a: MONDO:0005522 {source="MONDO:Redundant", source="NCIT:C4803", source="linkedlifedata"} ! small intestine carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0541912
property_value: exactMatch http://identifiers.org/snomedct/254570009
property_value: exactMatch NCIT:C4803

[Term]
id: MONDO:0021337
name: tonsil carcinoma
def: "A carcinoma that involves the tonsil." [MONDO:patterns/location]
synonym: "cancer of the tonsil" EXACT [NCIT:C4825]
synonym: "cancer of tonsil" EXACT [NCIT:C4825]
synonym: "carcinoma of the tonsil" EXACT [NCIT:C4825]
synonym: "carcinoma of tonsil" EXACT [MONDO:patterns/carcinoma, NCIT:C4825]
synonym: "tonsil cancer" EXACT [NCIT:C4825]
synonym: "tonsil carcinoma" EXACT [MONDO:patterns/location]
synonym: "tonsillar cancer" EXACT [NCIT:C4825]
synonym: "tonsillar carcinoma" EXACT [NCIT:C4825]
xref: NCIT:C4825 {source="MONDO:equivalentTo"}
xref: SCTID:274085008 {source="MONDO:equivalentTo"}
xref: UMLS:C0558355 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4825"}
is_a: MONDO:0006998 {source="MONDO:Redundant", source="NCIT:C4825", source="linkedlifedata", source="linkedlifedata/inferred"} ! tonsil cancer
is_a: MONDO:0044926 ! oropharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/274085008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0558355
property_value: exactMatch NCIT:C4825

[Term]
id: MONDO:0021339
name: carcinoma of hard palate
def: "A carcinoma that involves the hard palate." [MONDO:patterns/location]
synonym: "carcinoma of hard palate" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the hard palate" EXACT [NCIT:C8394]
synonym: "hard palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8394]
xref: NCIT:C8394 {source="MONDO:equivalentTo"}
xref: SCTID:254434008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345550 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8394"}
is_a: MONDO:0004719 {source="MONDO:Redundant", source="MONDOLEX:0021339", source="NCIT:C8394", source="linkedlifedata", source="linkedlifedata/inferred"} ! hard palate cancer
is_a: MONDO:0044925 ! oral cavity carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254434008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345550
property_value: exactMatch NCIT:C8394

[Term]
id: MONDO:0021340
name: intertrigo
def: "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." [MESH:D007402]
synonym: "Eczema intertrigo" RELATED [UMLS:C0021807]
synonym: "Erythema intertrigo" RELATED [UMLS:C0021807]
synonym: "Intertrigo" RELATED [MSH:D007402, SNOMEDCT_US:58759008]
xref: ICD9:695.89 {source="linkedlife"}
xref: MESH:D007402 {source="MONDO:equivalentTo", source="UMLS:C0021807"}
xref: SCTID:58759008 {source="MONDO:equivalentTo", source="UMLS:C0021807"}
xref: UMLS:C0021807 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="MESH:D007402"} ! dermatitis
property_value: exactMatch http://identifiers.org/mesh/D007402
property_value: exactMatch http://identifiers.org/snomedct/58759008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021807

[Term]
id: MONDO:0021343
name: carcinoma of floor of mouth
def: "A carcinoma that involves the mouth floor." [MONDO:patterns/location]
synonym: "carcinoma of mouth floor" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the floor of the mouth" EXACT [NCIT:C9319]
synonym: "floor of mouth carcinoma" EXACT [NCIT:C9319]
synonym: "floor of the mouth carcinoma" EXACT [NCIT:C9319]
synonym: "mouth floor cancer" EXACT [NCIT:C9319]
synonym: "mouth floor carcinoma" EXACT [MONDO:patterns/location]
xref: NCIT:C9319 {source="MONDO:equivalentTo"}
xref: SCTID:449156009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9319/inferred"} ! head and neck carcinoma
is_a: MONDO:0006181 ! digestive system carcinoma
is_a: MONDO:0021320 {source="MONDO:Redundant", source="MONDOLEX:0021343", source="NCIT:C9319", source="linkedlifedata"} ! malignant tumor of floor of mouth
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3164417
property_value: exactMatch http://identifiers.org/snomedct/449156009
property_value: exactMatch NCIT:C9319

[Term]
id: MONDO:0021345
name: carcinoma of pharynx
def: "A carcinoma that involves the pharynx." [MONDO:patterns/location]
synonym: "cancer of the pharynx" EXACT [NCIT:C9466]
synonym: "carcinoma of pharynx" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the pharynx" EXACT [NCIT:C9466]
synonym: "pharyngeal carcinoma" EXACT [NCIT:C9466]
synonym: "pharyngeal throat cancer" EXACT [NCIT:C9466]
synonym: "pharynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C9466]
xref: NCIT:C9466 {source="MONDO:equivalentTo"}
xref: SCTID:449254004 {source="MONDO:equivalentTo"}
is_a: MONDO:0006181 ! digestive system carcinoma
is_a: MONDO:0021246 ! pharynx neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0747548
property_value: exactMatch http://identifiers.org/snomedct/449254004
property_value: exactMatch NCIT:C9466

[Term]
id: MONDO:0021348
name: neoplasm of testis
def: "A neoplasm (disease) that involves the testis." [MONDO:patterns/location]
synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the testis" EXACT [NCIT:C3404]
synonym: "testicular neoplasm" EXACT [NCIT:C3404]
synonym: "testicular tumor" EXACT [NCIT:C3404]
synonym: "testis neoplasm" EXACT []
synonym: "testis neoplasm" RELATED [ONCOTREE:TESTIS]
synonym: "testis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "testis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of testis" EXACT [MONDO:patterns/neoplasm, NCIT:C3404]
synonym: "tumor of the testis" EXACT [NCIT:C3404]
xref: EFO:0004281 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3404 {source="MONDO:equivalentTo"}
xref: ONCOTREE:TESTIS {source="MONDO:equivalentTo"}
xref: SCTID:126900000 {source="MONDO:equivalentTo"}
is_a: MONDO:0002329 {source="MONDO:Redundant", source="NCIT:C3404", source="linkedlifedata"} ! testicular disease
is_a: MONDO:0024582 ! male reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039590
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039597
property_value: closeMatch NCIT:C12412
property_value: exactMatch http://identifiers.org/snomedct/126900000
property_value: exactMatch NCIT:C3404

[Term]
id: MONDO:0021350
name: neoplasm of thorax
def: "A neoplasm (disease) that involves the thoracic segment of trunk." [MONDO:patterns/location]
synonym: "neoplasm of the thorax" EXACT [NCIT:C3406]
synonym: "neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm]
synonym: "thoracic neoplasm" EXACT [NCIT:C3406]
synonym: "thoracic segment of trunk neoplasm" EXACT []
synonym: "thoracic segment of trunk neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "thoracic segment of trunk tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "thoracic tumor" EXACT [NCIT:C3406]
synonym: "tumor of the thorax" EXACT [NCIT:C3406]
synonym: "tumor of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of thorax" EXACT [NCIT:C3406]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3406 {source="MONDO:equivalentTo"}
xref: SCTID:255058005 {source="MONDO:equivalentTo"}
xref: UMLS:C0039981 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3406"}
is_a: MONDO:0000651 {source="MONDO:Redundant", source="NCIT:C3406", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDOLEX:0021350", source="NCIT:C3406/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/snomedct/255058005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039981
property_value: exactMatch NCIT:C3406

[Term]
id: MONDO:0021351
name: neoplasm of neck
def: "A neoplasm (disease) that involves the neck." [MONDO:patterns/location]
synonym: "neck neoplasm" EXACT [NCIT:C3260]
synonym: "neck neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "neck neoplasms (Including All pharyngeal related neoplasms)" EXACT [NCIT:C3260]
synonym: "neck tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3260]
synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the neck" EXACT [NCIT:C3260]
synonym: "tumor of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260]
synonym: "tumor of the neck" EXACT [NCIT:C3260]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3260 {source="MONDO:equivalentTo"}
xref: SCTID:126635000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027533 {source="NCIT:C3260", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3260", source="linkedlifedata"} ! head and neck neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126635000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027533
property_value: exactMatch NCIT:C3260

[Term]
id: MONDO:0021353
name: tumor of uterus
def: "A neoplasm (disease) that involves the uterus." [MONDO:patterns/location]
synonym: "neoplasm of the uterus" EXACT [NCIT:C3435]
synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the uterus" EXACT [NCIT:C3435]
synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "uterine neoplasm" EXACT [NCIT:C3435]
synonym: "uterine neoplasms" EXACT [NCIT:C3435]
synonym: "uterine tumor" EXACT [NCIT:C3435]
synonym: "uterus neoplasm" EXACT []
synonym: "uterus neoplasm" RELATED [ONCOTREE:UTERUS]
synonym: "uterus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterus tumor" EXACT [MONDO:patterns/neoplasm]
xref: EFO:0003859 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3435 {source="MONDO:equivalentTo"}
xref: ONCOTREE:UTERUS {source="MONDO:equivalentTo"}
xref: SCTID:126908007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C3435", source="linkedlifedata"} ! uterine disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3435"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042138
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042149
property_value: closeMatch NCIT:C12405
property_value: exactMatch http://identifiers.org/snomedct/126908007
property_value: exactMatch NCIT:C3435

[Term]
id: MONDO:0021354
name: tumor of adipose tissue
def: "A neoplasm (disease) that involves the adipose tissue." [MONDO:patterns/location]
synonym: "adipose tissue neoplasm" EXACT [NCIT:C4248]
synonym: "adipose tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adipose tissue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4248]
synonym: "lipomatous neoplasm" EXACT [NCIT:C4248]
synonym: "lipomatous tumor" EXACT [NCIT:C4248]
synonym: "neoplasm of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248]
synonym: "neoplasm of the adipose tissue" EXACT [NCIT:C4248]
synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the adipose tissue" EXACT [NCIT:C4248]
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4248 {source="MONDO:equivalentTo"}
xref: SCTID:254831005 {source="MONDO:equivalentTo"}
xref: UMLS:C0206631 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4248"}
is_a: MONDO:0002616 {source="NCIT:C4248"} ! mesenchymal cell neoplasm
is_a: MONDO:0021581 ! connective tissue neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254831005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206631
property_value: exactMatch NCIT:C4248

[Term]
id: MONDO:0021355
name: neoplasm of esophagus
def: "A neoplasm (disease) that involves the esophagus." [MONDO:patterns/location]
synonym: "esophageal neoplasm" EXACT [NCIT:C3028]
synonym: "esophageal neoplasms, benign and malignant" EXACT [NCIT:C3028]
synonym: "esophageal tumor" EXACT [NCIT:C3028]
synonym: "esophageal tumors" EXACT [NCIT:C3028]
synonym: "esophagus neoplasm" EXACT [NCIT:C3028]
synonym: "esophagus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "esophagus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3028]
synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the esophagus" EXACT [NCIT:C3028]
synonym: "tumor of esophagus" EXACT [MONDO:patterns/neoplasm, NCIT:C3028]
synonym: "tumor of the esophagus" EXACT [NCIT:C3028]
xref: NCIT:C3028 {source="MONDO:equivalentTo"}
xref: SCTID:126817006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014859 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C3028"}
is_a: MONDO:0003749 ! esophageal disease
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C3028"} ! digestive system neoplasm
is_a: MONDO:0021350 ! neoplasm of thorax
property_value: exactMatch http://identifiers.org/snomedct/126817006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014859
property_value: exactMatch NCIT:C3028

[Term]
id: MONDO:0021357
name: tumor of salivary gland
def: "A neoplasm (disease) that involves the saliva-secreting gland." [MONDO:patterns/location]
synonym: "neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of salivary gland" EXACT [NCIT:C3361]
synonym: "neoplasm of the salivary gland" EXACT [NCIT:C3361]
synonym: "saliva-secreting gland neoplasm" EXACT []
synonym: "saliva-secreting gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "saliva-secreting gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "salivary gland neoplasm" EXACT [NCIT:C3361]
synonym: "salivary gland tumor" EXACT [NCIT:C3361]
synonym: "tumor of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the salivary gland" EXACT [NCIT:C3361]
xref: EFO:0003826 {source="MONDO:equivalentTo"}
xref: NCIT:C3361 {source="MONDO:equivalentTo"}
xref: SCTID:235132004 {source="MONDO:equivalentTo"}
is_a: MONDO:0001142 {source="EFO:0003826", source="MONDO:Redundant", source="NCIT:C3361", source="linkedlifedata"} ! salivary gland disease
is_a: MONDO:0005586 {source="EFO:0003826/inferred", source="MONDO:Redundant", source="NCIT:C3361", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036095
property_value: exactMatch http://identifiers.org/snomedct/235132004
property_value: exactMatch NCIT:C3361

[Term]
id: MONDO:0021358
name: neoplasm of hypopharynx
def: "A neoplasm (disease) that involves the hypopharynx." [MONDO:patterns/location]
synonym: "hypopharyngeal neoplasm" EXACT [NCIT:C3127]
synonym: "hypopharyngeal neoplasms" EXACT [NCIT:C3127]
synonym: "hypopharyngeal tumor" EXACT [NCIT:C3127]
synonym: "hypopharynx neoplasm" EXACT []
synonym: "hypopharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hypopharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the hypopharynx" EXACT [NCIT:C3127]
synonym: "tumor of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127]
synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127]
xref: NCIT:C3127 {source="MONDO:equivalentTo"}
xref: SCTID:126686005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3127"} ! pharynx neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020627
property_value: exactMatch http://identifiers.org/snomedct/126686005
property_value: exactMatch NCIT:C3127

[Term]
id: MONDO:0021360
name: tumor of parathyroid gland
def: "A neoplasm (disease) that involves the parathyroid gland." [MONDO:patterns/location]
synonym: "neoplasm of parathyroid" EXACT [NCIT:C3313]
synonym: "neoplasm of parathyroid gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the parathyroid" EXACT [NCIT:C3313]
synonym: "neoplasm of the parathyroid gland" EXACT [NCIT:C3313]
synonym: "parathyroid gland neoplasm" EXACT [NCIT:C3313]
synonym: "parathyroid gland neoplasm" RELATED [NCIT:C3313]
synonym: "parathyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parathyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3313]
synonym: "parathyroid neoplasm" EXACT [NCIT:C3313]
synonym: "parathyroid tumor" EXACT [NCIT:C3313]
synonym: "tumor of parathyroid" EXACT [NCIT:C3313]
synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the parathyroid" EXACT [NCIT:C3313]
synonym: "tumor of the parathyroid gland" EXACT [NCIT:C3313]
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3313 {source="MONDO:equivalentTo"}
xref: SCTID:127020005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001223 {source="MONDO:Redundant", source="NCIT:C3313", source="linkedlifedata"} ! parathyroid gland disease
is_a: MONDO:0002082 ! endocrine gland neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0030521
property_value: exactMatch http://identifiers.org/snomedct/127020005
property_value: exactMatch NCIT:C3313

[Term]
id: MONDO:0021364
name: neoplasm of oropharynx
def: "A neoplasm (disease) that involves the oropharynx." [MONDO:patterns/location]
synonym: "neoplasm of oropharynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the oropharynx" EXACT [NCIT:C3291]
synonym: "oropharyngeal neoplasm" EXACT [NCIT:C3291]
synonym: "oropharyngeal neoplasms" EXACT [NCIT:C3291]
synonym: "oropharyngeal tumor" EXACT [NCIT:C3291]
synonym: "oropharynx neoplasm" EXACT []
synonym: "oropharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oropharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of oropharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3291]
synonym: "tumor of the oropharynx" EXACT [NCIT:C3291]
xref: NCIT:C3291 {source="MONDO:equivalentTo"}
xref: SCTID:126809003 {source="MONDO:equivalentTo"}
xref: UMLS:C0029295 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C3291"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0020592 ! disease of pharynx
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3291"} ! pharynx neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126809003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029295
property_value: exactMatch NCIT:C3291

[Term]
id: MONDO:0021366
name: neoplasm of middle ear
def: "A neoplasm (disease) that involves the middle ear." [MONDO:patterns/location]
synonym: "middle Ear neoplasm" EXACT [NCIT:C4412]
synonym: "middle ear neoplasm" EXACT []
synonym: "middle ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "middle Ear tumor" EXACT [NCIT:C4412]
synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the middle Ear" EXACT [NCIT:C4412]
synonym: "tumor of middle Ear" EXACT [NCIT:C4412]
synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the middle Ear" EXACT [NCIT:C4412]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4412 {source="MONDO:equivalentTo"}
xref: SCTID:127006003 {source="MONDO:equivalentTo"}
is_a: MONDO:0003276 {source="MONDO:Redundant", source="NCIT:C4412", source="linkedlifedata"} ! middle ear disease
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4412"} ! ear neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345617
property_value: exactMatch http://identifiers.org/snomedct/127006003
property_value: exactMatch NCIT:C4412

[Term]
id: MONDO:0021367
name: leukemia, myeloid, accelerated-phase
def: "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." [MESH:D015465]
synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated phase chronic myeloid leukemia" RELATED [UMLS:C0023472]
synonym: "Accelerated Phase CML" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase CML" RELATED [NCIT:C3173]
synonym: "CML ACCELERATED" RELATED [MSH:D015465]
synonym: "CML AGGRESSIVE" RELATED [MSH:D015465]
synonym: "Leukemia, Myelogenous, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Leukemia, Myelogenous, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Leukemia, Myeloid, Accelerated Phase" RELATED [MSH:D015465]
synonym: "Leukemia, Myeloid, Accelerated-Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Leukemia, Myeloid, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myelogenous Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myeloid Leukemia, Chronic, Accelerated-Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465, MSH:D015465]
synonym: "Myeloid Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465, MSH:D015465]
xref: EFO:1001755 {source="MONDO:equivalentTo"}
xref: MESH:D015465 {source="UMLS:C0023472", source="MONDO:equivalentTo"}
xref: UMLS:C0023472 {source="MONDO:equivalentTo"}
is_a: MONDO:0011996 {source="UMLS:C0023472"} ! chronic myelogenous leukemia, BCR-ABL1 positive
property_value: closeMatch http://identifiers.org/snomedct/413389003
property_value: closeMatch NCIT:C3173
property_value: exactMatch http://identifiers.org/mesh/D015465
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023472

[Term]
id: MONDO:0021368
name: neoplasm of major salivary gland
def: "A neoplasm (disease) that involves the major salivary gland." [MONDO:patterns/location]
synonym: "major salivary gland neoplasm" EXACT [NCIT:C4407]
synonym: "major salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "major salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4407]
synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Major salivary gland" EXACT [NCIT:C4407]
synonym: "tumor of Major salivary gland" EXACT [NCIT:C4407]
synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Major salivary gland" EXACT [NCIT:C4407]
xref: NCIT:C4407 {source="MONDO:equivalentTo"}
xref: SCTID:126787005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345599 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C4407"}
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4407", source="linkedlifedata"} ! tumor of salivary gland
property_value: exactMatch http://identifiers.org/snomedct/126787005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345599
property_value: exactMatch NCIT:C4407

[Term]
id: MONDO:0021370
name: neoplasm of minor salivary gland
def: "A neoplasm (disease) that involves the minor salivary gland." [MONDO:patterns/location]
synonym: "minor salivary gland neoplasm" EXACT [NCIT:C4409]
synonym: "minor salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "minor salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4409]
synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the minor salivary gland" EXACT [NCIT:C4409]
synonym: "tumor of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409]
synonym: "tumor of the minor salivary gland" EXACT [NCIT:C4409]
xref: NCIT:C4409 {source="MONDO:equivalentTo"}
xref: SCTID:126798006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345613 {source="NCIT:C4409", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4409", source="linkedlifedata"} ! tumor of salivary gland
is_a: MONDO:0044992 ! mouth mucosa disease
property_value: exactMatch http://identifiers.org/snomedct/126798006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345613
property_value: exactMatch NCIT:C4409

[Term]
id: MONDO:0021372
name: neoplasm of temporal lobe
def: "A neoplasm (disease) that involves the temporal lobe." [MONDO:patterns/location]
synonym: "neoplasm of temporal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the temporal lobe" EXACT [NCIT:C5567]
synonym: "temporal lobe neoplasm" EXACT [NCIT:C5567]
synonym: "temporal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "temporal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5567]
synonym: "tumor of temporal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5567]
synonym: "tumor of the temporal lobe" EXACT [NCIT:C5567]
xref: NCIT:C5567 {source="MONDO:equivalentTo"}
xref: SCTID:126955002 {source="MONDO:equivalentTo"}
xref: UMLS:C1263887 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="NCIT:C5567"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5567", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
property_value: exactMatch http://identifiers.org/snomedct/126955002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263887
property_value: exactMatch NCIT:C5567

[Term]
id: MONDO:0021373
name: neoplasm of parietal lobe
def: "A neoplasm (disease) that involves the parietal lobe." [MONDO:patterns/location]
synonym: "neoplasm of parietal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the parietal lobe" EXACT [NCIT:C5573]
synonym: "parietal lobe neoplasm" EXACT []
synonym: "parietal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parietal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5573]
synonym: "tumor of parietal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the parietal lobe" EXACT [NCIT:C5573]
xref: NCIT:C5573 {source="MONDO:equivalentTo"}
xref: SCTID:126956001 {source="MONDO:equivalentTo"}
xref: UMLS:C1263888 {source="MEDGEN:kboom-pr98-c98", source="NCIT:C5573", source="MONDO:equivalentTo"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5573", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
property_value: exactMatch http://identifiers.org/snomedct/126956001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263888
property_value: exactMatch NCIT:C5573

[Term]
id: MONDO:0021374
name: neoplasm of cerebral hemisphere
def: "A neoplasm involving a cerebral hemisphere." [MONDO:patterns/neoplasm]
synonym: "cerebral hemisphere neoplasm" EXACT []
synonym: "cerebral hemisphere tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cerebral hemispheric neoplasm" EXACT [NCIT:C4874]
synonym: "cerebral hemispheric tumor" EXACT [NCIT:C4874]
synonym: "cerebral neoplasm" EXACT [NCIT:C4874]
synonym: "cerebral neoplasms" EXACT [NCIT:C4874]
synonym: "cerebral tumor" EXACT [NCIT:C4874]
synonym: "neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "neoplasm of cerebrum" EXACT [NCIT:C4874]
synonym: "neoplasm of telencephalon" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "neoplasm of the cerebrum" EXACT [NCIT:C4874]
synonym: "telencephalon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "telencephalon tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "tumor of cerebrum" EXACT [NCIT:C4874]
synonym: "tumor of telencephalon" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "tumor of the cerebrum" EXACT [NCIT:C4874]
xref: NCIT:C4874 {source="MONDO:equivalentTo"}
xref: SCTID:126953009 {source="MONDO:equivalentTo"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4874/inferred"} ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1263885
property_value: exactMatch http://identifiers.org/snomedct/126953009
property_value: exactMatch NCIT:C4874

[Term]
id: MONDO:0021375
name: tumor of duodenum
def: "A neoplasm (disease) that involves the duodenum." [MONDO:patterns/location]
synonym: "duodenal neoplasm" EXACT [NCIT:C2995]
synonym: "duodenal neoplasm" RELATED [NCIT:C2995]
synonym: "duodenal tumor" EXACT [NCIT:C2995]
synonym: "duodenum neoplasm" EXACT []
synonym: "duodenum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "duodenum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the duodenum" EXACT [NCIT:C2995]
synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the duodenum" EXACT [NCIT:C2995]
xref: NCIT:C2995 {source="MONDO:equivalentTo"}
xref: SCTID:126833009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002866 {source="MONDO:Redundant", source="linkedlifedata"} ! duodenal disease
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C2995", source="linkedlifedata"} ! small intestine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013291
property_value: exactMatch http://identifiers.org/snomedct/126833009
property_value: exactMatch NCIT:C2995

[Term]
id: MONDO:0021377
name: hypertrophic lichen planus
def: "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." [NCIT:C34779]
synonym: "Hypertrophic Lichen Planus" RELATED [NCIT:C34779]
synonym: "Hypertrophic lichen planus" RELATED [UMLS:C0023649]
synonym: "hypertrophic lichen planus" EXACT [NCIT:C34779]
synonym: "Lichen planus hypertrophicus" RELATED [UMLS:C0023649]
synonym: "lichen planus hypertrophicus" RELATED []
xref: NCIT:C34779 {source="UMLS:C0023649", source="MONDO:equivalentTo"}
xref: SCTID:68266006 {source="UMLS:C0023649", source="MONDO:equivalentTo"}
xref: UMLS:C0023649 {source="MONDO:equivalentTo"}
is_a: MONDO:0006572 {source="NCIT:C34779", source="UMLS:C0023649"} ! lichen planus
property_value: exactMatch http://identifiers.org/snomedct/68266006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023649
property_value: exactMatch NCIT:C34779

[Term]
id: MONDO:0021378
name: neoplasm of endocardium
def: "A neoplasm (disease) that involves the endocardium." [MONDO:patterns/location]
synonym: "endocardial neoplasm" EXACT [NCIT:C5346]
synonym: "endocardial tumor" EXACT [NCIT:C5346]
synonym: "endocardium neoplasm" EXACT []
synonym: "endocardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of endocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the endocardium" EXACT [NCIT:C5346]
synonym: "tumor of endocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5346]
synonym: "tumor of the endocardium" EXACT [NCIT:C5346]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5346 {source="MONDO:equivalentTo"}
xref: SCTID:126731002 {source="MONDO:equivalentTo"}
xref: UMLS:C1290401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5346"}
is_a: MONDO:0000470 ! endocardium disease
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5346"} ! heart neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126731002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290401
property_value: exactMatch NCIT:C5346

[Term]
id: MONDO:0021379
name: neoplasm of epicardium
def: "A neoplasm (disease) that involves the epicardium." [MONDO:patterns/location]
synonym: "epicardial neoplasm" EXACT [NCIT:C5347]
synonym: "epicardial tumor" EXACT [NCIT:C5347]
synonym: "epicardium neoplasm" EXACT []
synonym: "epicardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "epicardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epicardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the epicardium" EXACT [NCIT:C5347]
synonym: "tumor of epicardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5347]
synonym: "tumor of the epicardium" EXACT [NCIT:C5347]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5347 {source="MONDO:equivalentTo"}
xref: SCTID:126733004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290403 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5347"}
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5347"} ! heart neoplasm
is_a: MONDO:0021381 {source="MONDO:Redundant", source="linkedlifedata"} ! neoplasm of pericardium
property_value: exactMatch http://identifiers.org/snomedct/126733004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290403
property_value: exactMatch NCIT:C5347

[Term]
id: MONDO:0021380
name: neoplasm of myocardium
def: "A neoplasm (disease) that involves the myocardium." [MONDO:patterns/location]
synonym: "myocardial neoplasm" EXACT [NCIT:C5349]
synonym: "myocardial tumor" EXACT [NCIT:C5349]
synonym: "myocardium neoplasm" EXACT []
synonym: "myocardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "myocardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of myocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the myocardium" EXACT [NCIT:C5349]
synonym: "tumor of myocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the myocardium" EXACT [NCIT:C5349]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5349 {source="MONDO:equivalentTo"}
xref: SCTID:126732009 {source="MONDO:equivalentTo"}
xref: UMLS:C1290402 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5349"}
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5349"} ! heart neoplasm
is_a: MONDO:0024643 ! myocardial disorder
property_value: exactMatch http://identifiers.org/snomedct/126732009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290402
property_value: exactMatch NCIT:C5349

[Term]
id: MONDO:0021381
name: neoplasm of pericardium
def: "A neoplasm (disease) that involves the pericardium." [MONDO:patterns/location]
synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the pericardium" EXACT [NCIT:C4651]
synonym: "pericardial neoplasm" EXACT [NCIT:C4651]
synonym: "pericardial tumor" EXACT [NCIT:C4651]
synonym: "pericardium neoplasm" EXACT []
synonym: "pericardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pericardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of pericardium" EXACT [MONDO:patterns/neoplasm, NCIT:C4651]
synonym: "tumor of the pericardium" EXACT [NCIT:C4651]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4651 {source="MONDO:equivalentTo"}
xref: SCTID:126734005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000474 ! pericardium disease
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4651/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of thorax
is_a: MONDO:0024757 ! cardiovascular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349574
property_value: exactMatch http://identifiers.org/snomedct/126734005
property_value: exactMatch NCIT:C4651

[Term]
id: MONDO:0021383
name: neoplasm of floor of mouth
def: "A neoplasm (disease) that involves the mouth floor." [MONDO:patterns/location]
synonym: "floor of mouth neoplasm" EXACT [NCIT:C4401]
synonym: "floor of mouth tumor" EXACT [NCIT:C4401]
synonym: "floor of the mouth neoplasm" EXACT [NCIT:C4401]
synonym: "floor of the mouth tumor" EXACT [NCIT:C4401]
synonym: "mouth floor neoplasm" EXACT []
synonym: "mouth floor neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mouth floor tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of mouth floor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the floor of the mouth" EXACT [NCIT:C4401]
synonym: "tumor of floor of mouth" EXACT [NCIT:C4401]
synonym: "tumor of mouth floor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the floor of the mouth" EXACT [NCIT:C4401]
xref: NCIT:C4401 {source="MONDO:equivalentTo"}
xref: SCTID:126799003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345538 {source="MONDO:equivalentTo", source="NCIT:C4401"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4401/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4401/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126799003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345538
property_value: exactMatch NCIT:C4401

[Term]
id: MONDO:0021385
name: extrahepatic bile duct neoplasm
def: "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." [NCIT:C4441]
synonym: "extrahepatic bile duct neoplasm" EXACT [NCIT:C4441]
synonym: "extrahepatic bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "neoplasm of the extrahepatic bile duct" EXACT [NCIT:C4441]
synonym: "tumor of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "tumor of the extrahepatic bile duct" EXACT [NCIT:C4441]
xref: NCIT:C4441 {source="MONDO:equivalentTo"}
xref: SCTID:126855001 {source="MONDO:equivalentTo"}
is_a: MONDO:0021662 {source="MONDO:Redundant", source="MONDOLEX:0021385", source="NCIT:C4441"} ! bile duct neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126855001
property_value: exactMatch NCIT:C4441

[Term]
id: MONDO:0021386
name: neoplasm of mediastinum
def: "A neoplasm (disease) that involves the mediastinum." [MONDO:patterns/location]
synonym: "mediastinal neoplasm" EXACT [NCIT:C3221]
synonym: "mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3221]
synonym: "mediastinal tumor" EXACT [NCIT:C3221]
synonym: "mediastinum neoplasm" EXACT []
synonym: "mediastinum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mediastinum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the mediastinum" EXACT [NCIT:C3221]
synonym: "tumor of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221]
synonym: "tumor of the mediastinum" EXACT [NCIT:C3221]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3221 {source="MONDO:equivalentTo"}
xref: SCTID:126725000 {source="MONDO:equivalentTo"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3221", source="linkedlifedata"} ! neoplasm of thorax
is_a: MONDO:0043707 ! mediastinal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0025063
property_value: exactMatch http://identifiers.org/snomedct/126725000
property_value: exactMatch NCIT:C3221

[Term]
id: MONDO:0021388
name: neoplasm of chest wall
def: "A neoplasm (disease) that involves the chest wall." [MONDO:patterns/location]
synonym: "chest wall neoplasm" EXACT [NCIT:C4929]
synonym: "chest wall neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "chest wall tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4929]
synonym: "neoplasm of chest wall" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the chest wall" EXACT [NCIT:C4929]
synonym: "tumor of chest wall" EXACT [MONDO:patterns/neoplasm, NCIT:C4929]
synonym: "tumor of the chest wall" EXACT [NCIT:C4929]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4929 {source="MONDO:equivalentTo"}
xref: SCTID:126640008 {source="MONDO:equivalentTo"}
xref: UMLS:C1290309 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4929", source="MONDO:equivalentTo"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4929", source="linkedlifedata"} ! neoplasm of thorax
property_value: exactMatch http://identifiers.org/snomedct/126640008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290309
property_value: exactMatch NCIT:C4929

[Term]
id: MONDO:0021389
name: neoplasm of aortic body
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels." [] {source="NCIT:C4218"}
synonym: "aortic body neoplasm" EXACT [NCIT:C4218]
synonym: "aortic body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "aortic body paraganglioma" EXACT [NCIT:C4218]
synonym: "aortic body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4218]
synonym: "aorticopulmonary paraganglioma" EXACT [NCIT:C4218]
synonym: "neoplasm of aortic body" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the aortic body" EXACT [NCIT:C4218]
synonym: "paraganglioma of aortic body" EXACT [NCIT:C4218]
synonym: "paraganglioma of the aortic body" EXACT [NCIT:C4218]
synonym: "tumor of aortic body" EXACT [MONDO:patterns/neoplasm, NCIT:C4218]
synonym: "tumor of the aortic body" EXACT [NCIT:C4218]
xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8691/1 {source="NCIT:C4218"}
xref: NCIT:C4218 {source="MONDO:equivalentTo"}
xref: SCTID:127029006 {source="MONDO:equivalentTo"}
xref: UMLS:C0334417 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4218"}
is_a: MONDO:0005561 ! aortic disease
is_a: MONDO:0021052 {source="NCIT:C4218"} ! parasympathetic paraganglioma
is_a: MONDO:0021080 ! blood vessel neoplasm
is_a: MONDO:0021350 ! neoplasm of thorax
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/127029006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334417
property_value: exactMatch NCIT:C4218

[Term]
id: MONDO:0021390
name: polyp of ureter
def: "A polyp that involves the ureter." [MONDO:patterns/location]
synonym: "polyp of the ureter" EXACT [NCIT:C4530]
synonym: "ureter polyp" EXACT [MONDO:patterns/location, NCIT:C4530]
synonym: "ureteral polyp" EXACT [NCIT:C4530]
xref: ICD9:593.89 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4530 {source="MONDO:equivalentTo"}
xref: SCTID:197821004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346269 {source="MONDO:equivalentTo", source="NCIT:C4530"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4530", source="linkedlifedata"} ! polyp
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C4530/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! ureter neoplasm
property_value: exactMatch http://identifiers.org/snomedct/197821004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346269
property_value: exactMatch NCIT:C4530

[Term]
id: MONDO:0021392
name: polyp of large intestine
def: "A polyp that involves the large intestine." [MONDO:patterns/location]
synonym: "colorectal polyp" EXACT [NCIT:C5679]
synonym: "large bowel polyp" EXACT [NCIT:C5679]
synonym: "large intestine polyp" EXACT [MONDO:patterns/location, NCIT:C5679]
synonym: "polyp of large bowel" EXACT [NCIT:C5679]
synonym: "polyp of the large bowel" EXACT [NCIT:C5679]
synonym: "polyp of the large intestine" EXACT [NCIT:C5679]
xref: NCIT:C5679 {source="MONDO:equivalentTo"}
xref: SCTID:399505005 {source="MONDO:equivalentTo"}
xref: UMLS:C0949059 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5679"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C5679/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch http://identifiers.org/snomedct/399505005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0949059
property_value: exactMatch NCIT:C5679

[Term]
id: MONDO:0021394
name: polyp of vagina
def: "A polyp that involves the vagina." [MONDO:patterns/location]
synonym: "polyp of the vagina" EXACT [NCIT:C3664]
synonym: "polyp, vaginal, benign" EXACT [NCIT:C3664]
synonym: "vagina polyp" EXACT [MONDO:patterns/location]
synonym: "vaginal polyp" EXACT [NCIT:C3664]
xref: ICD10:N84.2 {source="MONDO:equivalentTo"}
xref: ICD9:623.7 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3664 {source="MONDO:equivalentTo"}
xref: SCTID:29609001 {source="MONDO:equivalentTo"}
xref: UMLS:C0156390 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3664"}
is_a: MONDO:0001433 ! vaginal disease
is_a: MONDO:0005079 {source="ICD10:N84.2", source="MONDO:Redundant", source="NCIT:C3664", source="linkedlifedata"} ! polyp
property_value: exactMatch http://identifiers.org/snomedct/29609001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156390
property_value: exactMatch NCIT:C3664

[Term]
id: MONDO:0021396
name: polyp of vulva
def: "A polyp that involves the mammalian vulva." [MONDO:patterns/location]
synonym: "mammalian vulva polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of the vulva" EXACT [NCIT:C3978]
synonym: "vulva polyp" EXACT [NCIT:C3978]
synonym: "vulvar polyp" EXACT [NCIT:C3978]
xref: ICD10:N84.3 {source="MONDO:equivalentTo"}
xref: ICD9:624.6 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3978 {source="MONDO:equivalentTo"}
xref: SCTID:57158005 {source="MONDO:equivalentTo"}
xref: UMLS:C0269218 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3978"}
is_a: MONDO:0002263 ! female reproductive system disease
is_a: MONDO:0005079 {source="ICD10:N84.3", source="MONDO:Redundant", source="NCIT:C3978", source="linkedlifedata"} ! polyp
property_value: exactMatch http://identifiers.org/snomedct/57158005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0269218
property_value: exactMatch NCIT:C3978

[Term]
id: MONDO:0021398
name: polyp of rectum
def: "A polyp that involves the rectum." [MONDO:patterns/location]
synonym: "polyp of the rectum" EXACT [NCIT:C3351]
synonym: "rectal polyp" EXACT [NCIT:C3351]
synonym: "rectum polyp" EXACT [MONDO:patterns/location]
xref: NCIT:C3351 {source="MONDO:equivalentTo"}
xref: SCTID:39772007 {source="MONDO:equivalentTo"}
xref: UMLS:C0034887 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3351", source="MONDO:equivalentTo"}
is_a: MONDO:0001593 ! rectal disease
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C3351", source="linkedlifedata"} ! polyp of large intestine
property_value: exactMatch http://identifiers.org/snomedct/39772007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034887
property_value: exactMatch NCIT:C3351

[Term]
id: MONDO:0021400
name: polyp of colon
def: "A polyp that involves the colon." [MONDO:patterns/location]
synonym: "colon polyp" EXACT [MONDO:patterns/location, NCIT:C2954]
synonym: "colonic polyp" EXACT [NCIT:C2954]
synonym: "polyp of the colon" EXACT [NCIT:C2954]
xref: ICD10:K63.5 {source="MONDO:equivalentTo"}
xref: MESH:D003111 {source="MONDO:equivalentTo"}
xref: NCIT:C2954 {source="MONDO:equivalentTo"}
xref: SCTID:68496003 {source="MONDO:equivalentTo"}
is_a: MONDO:0003409 ! colonic disease
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C2954", source="linkedlifedata"} ! polyp of large intestine
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009376
property_value: exactMatch http://identifiers.org/mesh/D003111
property_value: exactMatch http://identifiers.org/snomedct/68496003
property_value: exactMatch NCIT:C2954

[Term]
id: MONDO:0021402
name: polyp of external auditory canal
def: "A polyp that involves the external acoustic meatus." [MONDO:patterns/location]
synonym: "external acoustic meatus polyp" EXACT [MONDO:patterns/location]
synonym: "external auditory canal polyp" EXACT [NCIT:C4366]
synonym: "external Ear polyp" EXACT [NCIT:C4366]
synonym: "polyp of the external auditory canal" EXACT [NCIT:C4366]
xref: NCIT:C4366 {source="MONDO:equivalentTo"}
xref: SCTID:95211004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339765 {source="MONDO:equivalentTo", source="NCIT:C4366"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4366/inferred", source="linkedlifedata"} ! polyp
is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4366/inferred", source="linkedlifedata/inferred"} ! external ear neoplasm
property_value: exactMatch http://identifiers.org/snomedct/95211004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339765
property_value: exactMatch NCIT:C4366

[Term]
id: MONDO:0021404
name: polyp of sphenoidal sinus
def: "A polyp that involves the sphenoidal sinus." [MONDO:patterns/location]
synonym: "polyp of sphenoid sinus" EXACT [NCIT:C3933]
synonym: "polyp of the sphenoid sinus" EXACT [NCIT:C3933]
synonym: "polyp of the sphenoidal sinus" EXACT [NCIT:C3933]
synonym: "sphenoid sinus polyp" EXACT [NCIT:C3933]
synonym: "sphenoidal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3933]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3933 {source="MONDO:equivalentTo"}
xref: SCTID:90685008 {source="MONDO:equivalentTo"}
xref: UMLS:C0264255 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3933"}
is_a: MONDO:0001735 ! paranasal sinus disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3933/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch http://identifiers.org/snomedct/90685008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264255
property_value: exactMatch NCIT:C3933

[Term]
id: MONDO:0021408
name: polyp of frontal sinus
def: "A polyp that involves the frontal sinus." [MONDO:patterns/location]
synonym: "frontal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C4367]
synonym: "polyp of the frontal sinus" EXACT [NCIT:C4367]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4367 {source="MONDO:equivalentTo"}
xref: SCTID:195759002 {source="MONDO:equivalentTo"}
xref: UMLS:C0339814 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4367"}
is_a: MONDO:0001735 ! paranasal sinus disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4367/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
property_value: exactMatch http://identifiers.org/snomedct/195759002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339814
property_value: exactMatch NCIT:C4367

[Term]
id: MONDO:0021412
name: polyp of maxillary sinus
def: "A polyp that involves the maxillary sinus." [MONDO:patterns/location]
synonym: "maxillary antral polyp" EXACT [NCIT:C3931]
synonym: "maxillary sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3931]
synonym: "polyp of the maxillary sinus" EXACT [NCIT:C3931]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3931 {source="MONDO:equivalentTo"}
xref: SCTID:29074008 {source="MONDO:equivalentTo"}
xref: UMLS:C0264239 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3931"}
is_a: MONDO:0001735 ! paranasal sinus disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3931/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0023369 ! disease of facial skeleton
property_value: exactMatch http://identifiers.org/snomedct/29074008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264239
property_value: exactMatch NCIT:C3931

[Term]
id: MONDO:0021416
name: polyp of gallbladder
def: "A polyp that involves the gall bladder." [MONDO:patterns/location]
synonym: "gall bladder polyp" EXACT [MONDO:patterns/location]
synonym: "gallbladder polyp" EXACT [NCIT:C3909]
synonym: "polyp of the gallbladder" EXACT [NCIT:C3909]
xref: NCIT:C3909 {source="MONDO:equivalentTo"}
xref: SCTID:197433003 {source="MONDO:equivalentTo"}
xref: UMLS:C0262493 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3909"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3909/inferred", source="linkedlifedata"} ! polyp
is_a: MONDO:0005281 ! gallbladder disease
property_value: exactMatch http://identifiers.org/snomedct/197433003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262493
property_value: exactMatch NCIT:C3909

[Term]
id: MONDO:0021418
name: polyp of ethmoidal sinus
def: "A polyp that involves the ethmoid sinus." [MONDO:patterns/location]
synonym: "ethmoid sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3932]
synonym: "ethmoidal polyp" EXACT [NCIT:C3932]
synonym: "ethmoidal sinus polyp" EXACT [NCIT:C3932]
synonym: "polyp of ethmoid sinus" EXACT [NCIT:C3932]
synonym: "polyp of the ethmoid sinus" EXACT [NCIT:C3932]
synonym: "polyp of the ethmoidal sinus" EXACT [NCIT:C3932]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3932 {source="MONDO:equivalentTo"}
xref: SCTID:23966000 {source="MONDO:equivalentTo"}
xref: UMLS:C0264248 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3932"}
is_a: MONDO:0001735 ! paranasal sinus disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3932/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
property_value: exactMatch http://identifiers.org/snomedct/23966000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264248
property_value: exactMatch NCIT:C3932

[Term]
id: MONDO:0021420
name: polyp of vocal cord
def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." [] {source="NCIT:C3440"}
synonym: "laryngeal vocal fold polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of the vocal cord" EXACT [NCIT:C3440]
synonym: "vocal cord polyp" EXACT [NCIT:C3440]
xref: NCIT:C3440 {source="MONDO:equivalentTo"}
xref: SCTID:9078005 {source="MONDO:equivalentTo"}
xref: UMLS:C0042929 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3440", source="MONDO:equivalentTo"}
is_a: MONDO:0004382 ! laryngeal disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3440", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp
property_value: exactMatch http://identifiers.org/snomedct/9078005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042929
property_value: exactMatch NCIT:C3440

[Term]
id: MONDO:0021424
name: hemangiopericytoma of skin
def: "A hemangiopericytoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "hemangiopericytoma of the skin" EXACT [NCIT:C4492]
synonym: "skin hemangiopericytoma" EXACT [NCIT:C4492]
synonym: "zone of skin hemangiopericytoma" EXACT [MONDO:patterns/location]
xref: NCIT:C4492 {source="MONDO:equivalentTo"}
xref: SCTID:254796009 {source="MONDO:equivalentTo"}
xref: UMLS:C0346084 {source="NCIT:C4492", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002531 ! skin neoplasm
is_a: MONDO:0005094 {source="MONDO:Redundant", source="NCIT:C4492"} ! hemangiopericytoma
property_value: exactMatch http://identifiers.org/snomedct/254796009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346084
property_value: exactMatch NCIT:C4492

[Term]
id: MONDO:0021427
name: squamous cell carcinoma of lip
def: "A squamous cell carcinoma that involves the lip." [MONDO:patterns/location]
subset: ordo_disease
synonym: "lip scc" EXACT [NCIT:C4042]
synonym: "lip squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4042]
synonym: "scc of Lip" EXACT [NCIT:C4042]
synonym: "scc of the Lip" EXACT [NCIT:C4042]
synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042]
xref: NCIT:C4042 {source="MONDO:equivalentTo"}
xref: Orphanet:502366 {source="MONDO:equivalentTo"}
xref: SCTID:255071008 {source="MONDO:equivalentTo"}
xref: UMLS:C0280302 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4042", source="MONDO:equivalentTo"}
is_a: MONDO:0004958 {source="MONDO:Redundant", source="linkedlifedata"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0021333 {source="MONDO:Redundant", source="NCIT:C4042"} ! carcinoma of lip
property_value: exactMatch http://identifiers.org/snomedct/255071008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280302
property_value: exactMatch NCIT:C4042
property_value: exactMatch Orphanet:502366

[Term]
id: MONDO:0021429
name: squamous cell carcinoma of floor of mouth
def: "A squamous cell carcinoma that involves the mouth floor." [MONDO:patterns/location]
synonym: "floor of mouth scc" EXACT [NCIT:C4041]
synonym: "floor of mouth squamous cell carcinoma" EXACT [NCIT:C4041]
synonym: "mouth floor squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "scc of floor of mouth" EXACT [NCIT:C4041]
synonym: "scc of the floor of mouth" EXACT [NCIT:C4041]
synonym: "squamous cell carcinoma of the floor of mouth" EXACT [NCIT:C4041]
xref: NCIT:C4041 {source="MONDO:equivalentTo"}
xref: SCTID:276954004 {source="MONDO:equivalentTo"}
xref: UMLS:C0280300 {source="NCIT:C4041", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C4041", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0021343 {source="MONDO:Redundant", source="MONDOLEX:0021429", source="NCIT:C4041"} ! carcinoma of floor of mouth
property_value: exactMatch http://identifiers.org/snomedct/276954004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280300
property_value: exactMatch NCIT:C4041

[Term]
id: MONDO:0021431
name: squamous cell carcinoma of buccal mucosa
def: "A squamous cell carcinoma that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "buccal mucosa squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4040]
synonym: "scc of buccal mucosa" EXACT [NCIT:C4040]
synonym: "scc of the buccal mucosa" EXACT [NCIT:C4040]
synonym: "squamous cell carcinoma of the buccal mucosa" EXACT [NCIT:C4040]
xref: NCIT:C4040 {source="MONDO:equivalentTo"}
xref: SCTID:254437001 {source="MONDO:equivalentTo"}
xref: UMLS:C0280299 {source="NCIT:C4040", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004645 {source="MONDO:Redundant", source="NCIT:C4040", source="linkedlifedata"} ! cheek mucosa cancer
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C4040", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma
property_value: exactMatch http://identifiers.org/snomedct/254437001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280299
property_value: exactMatch NCIT:C4040

[Term]
id: MONDO:0021437
name: lipoma of stomach
def: "A lipoma that involves the stomach." [MONDO:patterns/location]
synonym: "gastric lipoma" EXACT [NCIT:C5258]
synonym: "lipoma of the stomach" EXACT [NCIT:C5258]
synonym: "stomach lipoma" EXACT [MONDO:patterns/location]
xref: NCIT:C5258 {source="MONDO:equivalentTo"}
xref: SCTID:695751021000132104 {source="MONDO:equivalentTo"}
xref: UMLS:C1333777 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5258"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="MONDOLEX:0021437", source="NCIT:C5258"} ! lipoma
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C5258/inferred", source="linkedlifedata"} ! benign neoplasm of stomach
property_value: exactMatch http://identifiers.org/snomedct/695751021000132104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333777
property_value: exactMatch NCIT:C5258

[Term]
id: MONDO:0021439
name: benign neoplasm of pituitary gland
def: "A benign neoplasm that involves the pituitary gland." [MONDO:patterns/location]
synonym: "benign neoplasm of pituitary" EXACT [NCIT:C4782]
synonym: "benign neoplasm of the pituitary" EXACT [NCIT:C4782]
synonym: "benign neoplasm of the pituitary gland" EXACT [NCIT:C4782]
synonym: "benign pituitary gland neoplasm" EXACT [NCIT:C4782]
synonym: "benign pituitary gland tumor" EXACT [NCIT:C4782]
synonym: "benign pituitary neoplasm" EXACT [NCIT:C4782]
synonym: "benign pituitary tumor" EXACT [NCIT:C4782]
synonym: "benign tumor of pituitary" EXACT [NCIT:C4782]
synonym: "benign tumor of pituitary gland" EXACT [NCIT:C4782]
synonym: "benign tumor of the pituitary" EXACT [NCIT:C4782]
synonym: "benign tumor of the pituitary gland" EXACT [NCIT:C4782]
synonym: "pituitary gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782]
synonym: "pituitary tumor, benign" EXACT [NCIT:C4782]
xref: ICD10:D35.2 {source="MONDO:equivalentTo"}
xref: NCIT:C4782 {source="MONDO:equivalentTo"}
xref: SCTID:92296004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496901 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4782", source="MONDO:equivalentTo"}
is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata"} ! benign endocrine neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0017611 ! pituitary tumor
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C4782/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of brain
property_value: exactMatch http://identifiers.org/snomedct/92296004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496901
property_value: exactMatch NCIT:C4782

[Term]
id: MONDO:0021440
name: benign neoplasm of skin
def: "A benign neoplasm that involves the zone of skin." [MONDO:patterns/location]
synonym: "benign cutaneous neoplasm" EXACT [NCIT:C2896]
synonym: "benign cutaneous tumor" EXACT [NCIT:C2896]
synonym: "benign neoplasm of the skin" EXACT [NCIT:C2896]
synonym: "benign skin neoplasm" EXACT [NCIT:C2896]
synonym: "benign skin tumor" EXACT [NCIT:C2896]
synonym: "benign tumor of skin" EXACT [NCIT:C2896]
synonym: "benign tumor of the skin" EXACT [NCIT:C2896]
synonym: "skin neoplasms, benign" EXACT [NCIT:C2896]
synonym: "zone of skin benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:216.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:216.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C2896 {source="MONDO:equivalentTo"}
xref: SCTID:92384009 {source="MONDO:equivalentTo"}
xref: UMLS:C0004998 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2896"}
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0002531 {source="MONDO:Redundant", source="MONDOLEX:0021440", source="NCIT:C2896", source="linkedlifedata"} ! skin neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92384009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004998
property_value: exactMatch NCIT:C2896

[Term]
id: MONDO:0021441
name: benign neoplasm of exocrine pancreas
def: "A benign neoplasm that involves the exocrine pancreas." [MONDO:patterns/location]
synonym: "benign exocrine pancreas neoplasm" EXACT [NCIT:C4613]
synonym: "benign exocrine pancreas tumor" EXACT [NCIT:C4613]
synonym: "benign exocrine pancreatic neoplasm" EXACT [NCIT:C4613]
synonym: "benign neoplasm of the exocrine pancreas" EXACT [NCIT:C4613]
synonym: "benign tumor of exocrine pancreas" EXACT [NCIT:C4613]
synonym: "benign tumor of the exocrine pancreas" EXACT [NCIT:C4613]
synonym: "exocrine pancreas benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4613 {source="MONDO:equivalentTo"}
xref: SCTID:271956003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347285 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4613"}
is_a: MONDO:0021076 {source="MONDO:Redundant", source="MONDOLEX:0021441", source="NCIT:C4613", source="linkedlifedata"} ! pancreatic exocrine neoplasm
is_a: MONDO:0021470 {source="MONDO:Redundant", source="MONDOLEX:0021441", source="NCIT:C4613", source="linkedlifedata"} ! benign neoplasm of pancreas
property_value: exactMatch http://identifiers.org/snomedct/271956003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347285
property_value: exactMatch NCIT:C4613

[Term]
id: MONDO:0021443
name: benign neoplasm of lymph node
def: "A benign neoplasm that involves the lymph node." [MONDO:patterns/location]
synonym: "benign lymph node neoplasm" EXACT [NCIT:C3636]
synonym: "benign lymph node neoplasm NOS" RELATED EXCLUDE [NCIT:C3636]
synonym: "benign lymph node tumor" EXACT [NCIT:C3636]
synonym: "benign neoplasm of the lymph node" EXACT [NCIT:C3636]
synonym: "benign tumor of lymph node" EXACT [NCIT:C3636]
synonym: "benign tumor of the lymph node" EXACT [NCIT:C3636]
synonym: "lymph node benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:229.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3636 {source="MONDO:equivalentTo"}
xref: SCTID:92197001 {source="MONDO:equivalentTo"}
xref: UMLS:C0154054 {source="MONDO:equivalentTo", source="NCIT:C3636"}
is_a: MONDO:0000630 ! immune system organ benign neoplasm
is_a: MONDO:0024339 ! lymph node neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92197001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154054
property_value: exactMatch NCIT:C3636

[Term]
id: MONDO:0021444
name: benign neoplasm of large intestine
def: "A benign neoplasm that involves the large intestine." [MONDO:patterns/location]
synonym: "benign colorectal neoplasm" EXACT [NCIT:C4610]
synonym: "benign colorectal neoplasms" EXACT [NCIT:C4610]
synonym: "benign colorectal tumor" EXACT [NCIT:C4610]
synonym: "benign colorectal tumors" EXACT [NCIT:C4610]
synonym: "benign large bowel neoplasm" EXACT [NCIT:C4610]
synonym: "benign large bowel tumor" EXACT [NCIT:C4610]
synonym: "benign large intestine neoplasm" EXACT [NCIT:C4610]
synonym: "benign large intestine tumor" EXACT [NCIT:C4610]
synonym: "benign neoplasm of large bowel" EXACT [NCIT:C4610]
synonym: "benign neoplasm of the large bowel" EXACT [NCIT:C4610]
synonym: "benign neoplasm of the large intestine" EXACT [NCIT:C4610]
synonym: "benign tumor of large bowel" EXACT [NCIT:C4610]
synonym: "benign tumor of large intestine" EXACT [NCIT:C4610]
synonym: "benign tumor of the large bowel" EXACT [NCIT:C4610]
synonym: "benign tumor of the large intestine" EXACT [NCIT:C4610]
synonym: "colorectal neoplasms, benign" EXACT [NCIT:C4610]
synonym: "colorectal tumors, benign" EXACT [NCIT:C4610]
synonym: "large intestine benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasms, colorectal, benign" EXACT [NCIT:C4610]
synonym: "tumors, colorectal, benign" EXACT [NCIT:C4610]
xref: NCIT:C4610 {source="MONDO:equivalentTo"}
xref: SCTID:92170008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347272 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4610"}
is_a: MONDO:0003062 {source="MONDO:Redundant", source="MONDOLEX:0021444", source="NCIT:C4610", source="linkedlifedata"} ! intestinal benign neoplasm
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch http://identifiers.org/snomedct/92170008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347272
property_value: exactMatch NCIT:C4610

[Term]
id: MONDO:0021445
name: benign neoplasm of oral cavity
def: "A benign neoplasm that involves the oral cavity." [MONDO:patterns/location]
synonym: "benign mouth neoplasm" EXACT [NCIT:C7607]
synonym: "benign mouth tumor" EXACT [NCIT:C7607]
synonym: "benign neoplasm of mouth" EXACT [NCIT:C7607]
synonym: "benign neoplasm of the mouth" EXACT [NCIT:C7607]
synonym: "benign neoplasm of the oral cavity" EXACT [NCIT:C7607]
synonym: "benign oral cavity neoplasm" EXACT [NCIT:C7607]
synonym: "benign oral cavity tumor" EXACT [NCIT:C7607]
synonym: "benign tumor of mouth" EXACT [NCIT:C7607]
synonym: "benign tumor of oral cavity" EXACT [NCIT:C7607]
synonym: "benign tumor of the mouth" EXACT [NCIT:C7607]
synonym: "benign tumor of the oral cavity" EXACT [NCIT:C7607]
synonym: "oral cavity benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C7607 {source="MONDO:equivalentTo"}
xref: SCTID:419645003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347197 {source="MONDO:equivalentTo", source="NCIT:C7607"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021245 {source="MONDO:Redundant", source="NCIT:C7607", source="linkedlifedata"} ! oral cavity neoplasm
property_value: exactMatch http://identifiers.org/snomedct/419645003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347197
property_value: exactMatch NCIT:C7607

[Term]
id: MONDO:0021446
name: benign neoplasm of epiglottis
def: "A benign neoplasm that involves the epiglottis." [MONDO:patterns/location]
synonym: "benign epiglottic neoplasm" EXACT [NCIT:C4606]
synonym: "benign epiglottic tumor" EXACT [NCIT:C4606]
synonym: "benign Epiglottis neoplasm" EXACT [NCIT:C4606]
synonym: "benign Epiglottis tumor" EXACT [NCIT:C4606]
synonym: "benign neoplasm of the Epiglottis" EXACT [NCIT:C4606]
synonym: "benign tumor of Epiglottis" EXACT [NCIT:C4606]
synonym: "benign tumor of the Epiglottis" EXACT [NCIT:C4606]
synonym: "epiglottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4606 {source="MONDO:equivalentTo"}
xref: SCTID:92089006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347236 {source="NCIT:C4606", source="MONDO:equivalentTo"}
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4606/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign laryngeal neoplasm
is_a: MONDO:0004109 {source="MONDO:Redundant", source="NCIT:C4606", source="linkedlifedata"} ! epiglottis neoplasm
is_a: MONDO:0021461 ! benign neoplasm of hypopharynx
property_value: exactMatch http://identifiers.org/snomedct/92089006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347236
property_value: exactMatch NCIT:C4606

[Term]
id: MONDO:0021447
name: benign neoplasm of testis
def: "A benign neoplasm that involves the testis." [MONDO:patterns/location]
synonym: "benign neoplasm of the testis" EXACT [NCIT:C3612]
synonym: "benign testicular neoplasm" EXACT [NCIT:C3612]
synonym: "benign testicular tumor" EXACT [NCIT:C3612]
synonym: "benign tumor of testis" EXACT [NCIT:C3612]
synonym: "benign tumor of the testis" EXACT [NCIT:C3612]
synonym: "testis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:222.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3612 {source="MONDO:equivalentTo"}
xref: SCTID:92428008 {source="MONDO:equivalentTo"}
xref: UMLS:C0154007 {source="MONDO:equivalentTo", source="NCIT:C3612"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C3612", source="linkedlifedata"} ! neoplasm of testis
property_value: exactMatch http://identifiers.org/snomedct/92428008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154007
property_value: exactMatch NCIT:C3612

[Term]
id: MONDO:0021449
name: benign neoplasm of stomach
def: "A benign neoplasm that involves the stomach." [MONDO:patterns/location]
synonym: "benign gastric neoplasm" EXACT [NCIT:C3599]
synonym: "benign gastric tumor" EXACT [NCIT:C3599]
synonym: "benign gastric tumors" EXACT [NCIT:C3599]
synonym: "benign neoplasm of the stomach" EXACT [NCIT:C3599]
synonym: "benign stomach neoplasms" EXACT [NCIT:C3599]
synonym: "benign stomach tumors" EXACT [NCIT:C3599]
synonym: "benign tumor of stomach" EXACT [NCIT:C3599]
synonym: "benign tumor of the stomach" EXACT [NCIT:C3599]
synonym: "benign tumors of stomach" EXACT [NCIT:C3599]
synonym: "benign tumors of the stomach" EXACT [NCIT:C3599]
synonym: "gastric neoplasms, benign" EXACT [NCIT:C3599]
synonym: "gastric tumors, benign" EXACT [NCIT:C3599]
synonym: "stomach benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "stomach neoplasms, benign" EXACT [NCIT:C3599]
synonym: "stomach tumors, benign" EXACT [NCIT:C3599]
xref: ICD10:D13.1 {source="MONDO:equivalentTo"}
xref: ICD9:211.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3599 {source="MONDO:equivalentTo"}
xref: SCTID:92411005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153943 {source="MONDO:equivalentTo", source="NCIT:C3599"}
is_a: MONDO:0000385 {source="MONDO:Redundant", source="NCIT:C3599"} ! benign digestive system neoplasm
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C3599", source="linkedlifedata"} ! gastric neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92411005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153943
property_value: exactMatch NCIT:C3599

[Term]
id: MONDO:0021450
name: benign neoplasm of heart
def: "A benign neoplasm that involves the heart." [MONDO:patterns/location]
synonym: "benign Cardiac neoplasm" EXACT [NCIT:C3605]
synonym: "benign Cardiac tumor" EXACT [NCIT:C3605]
synonym: "benign heart neoplasm" EXACT [NCIT:C3605]
synonym: "benign heart tumor" EXACT [NCIT:C3605]
synonym: "benign neoplasm of the heart" EXACT [NCIT:C3605]
synonym: "benign tumor of heart" EXACT [NCIT:C3605]
synonym: "benign tumor of the heart" EXACT [NCIT:C3605]
synonym: "heart benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D15.1 {source="MONDO:equivalentTo"}
xref: ICD9:212.7 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3605 {source="MONDO:equivalentTo"}
xref: SCTID:92132009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153957 {source="NCIT:C3605", source="MONDO:equivalentTo"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C3605", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C3605"} ! heart neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92132009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153957
property_value: exactMatch NCIT:C3605

[Term]
id: MONDO:0021451
name: benign neoplasm of brain
def: "A benign neoplasm that involves the brain." [MONDO:patterns/location]
synonym: "benign brain neoplasm" EXACT [NCIT:C4781]
synonym: "benign brain tumor" EXACT [NCIT:C4781]
synonym: "benign neoplasm of the brain" EXACT [NCIT:C4781]
synonym: "benign tumor of brain" EXACT [NCIT:C4781]
synonym: "benign tumor of the brain" EXACT [NCIT:C4781]
synonym: "brain benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "brain neoplasms, benign" EXACT [NCIT:C4781]
xref: EFO:1000107 {source="MONDO:equivalentTo"}
xref: ICD9:225.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4781 {source="MONDO:equivalentTo"}
xref: SCTID:92030004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000628 ! central nervous system organ benign neoplasm
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4781"} ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0496899
property_value: exactMatch http://identifiers.org/snomedct/92030004
property_value: exactMatch NCIT:C4781

[Term]
id: MONDO:0021452
name: benign neoplasm of cornea
def: "A benign neoplasm that involves the cornea." [MONDO:patterns/location]
synonym: "benign cornea neoplasm" EXACT [NCIT:C3623]
synonym: "benign cornea tumor" EXACT [NCIT:C3623]
synonym: "benign corneal neoplasm" EXACT [NCIT:C3623]
synonym: "benign corneal tumor" EXACT [NCIT:C3623]
synonym: "benign neoplasm of the cornea" EXACT [NCIT:C3623]
synonym: "benign tumor of cornea" EXACT [NCIT:C3623]
synonym: "benign tumor of the cornea" EXACT [NCIT:C3623]
synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3623 {source="MONDO:equivalentTo"}
xref: SCTID:92070006 {source="MONDO:equivalentTo"}
xref: UMLS:C0154026 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3623"}
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C3623"} ! cornea neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3623", source="linkedlifedata"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/92070006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154026
property_value: exactMatch NCIT:C3623

[Term]
id: MONDO:0021453
name: benign neoplasm of retina
def: "A benign neoplasm that involves the retina." [MONDO:patterns/location]
synonym: "benign neoplasm of the retina" EXACT [NCIT:C3624]
synonym: "benign retina neoplasm" EXACT [NCIT:C3624]
synonym: "benign retina tumor" EXACT [NCIT:C3624]
synonym: "benign retinal neoplasm" EXACT [NCIT:C3624]
synonym: "benign retinal tumor" EXACT [NCIT:C3624]
synonym: "benign tumor of retina" EXACT [NCIT:C3624]
synonym: "benign tumor of the retina" EXACT [NCIT:C3624]
synonym: "retina benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.5 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3624 {source="MONDO:equivalentTo"}
xref: SCTID:92321003 {source="MONDO:equivalentTo"}
xref: UMLS:C0154027 {source="MONDO:equivalentTo", source="NCIT:C3624"}
is_a: MONDO:0021231 {source="MONDO:Redundant", source="NCIT:C3624"} ! retina neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3624", source="linkedlifedata"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/92321003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154027
property_value: exactMatch NCIT:C3624

[Term]
id: MONDO:0021454
name: benign neoplasm of eye
def: "A benign neoplasm that involves the eye." [MONDO:patterns/location]
synonym: "benign eye neoplasm" EXACT [NCIT:C4780]
synonym: "benign eye tumor" EXACT [NCIT:C4780]
synonym: "benign neoplasm of the eye" EXACT [NCIT:C4780]
synonym: "benign ocular neoplasm" EXACT [NCIT:C4780]
synonym: "benign ocular tumor" EXACT [NCIT:C4780]
synonym: "benign tumor of eye" EXACT [NCIT:C4780]
synonym: "benign tumor of the eye" EXACT [NCIT:C4780]
synonym: "eye benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:224.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:224.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4780 {source="MONDO:equivalentTo"}
xref: SCTID:92097004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496897 {source="NCIT:C4780", source="MONDO:equivalentTo"}
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4780"} ! eye neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92097004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496897
property_value: exactMatch NCIT:C4780

[Term]
id: MONDO:0021455
name: benign neoplasm of neck
def: "A benign neoplasm that involves the neck." [MONDO:patterns/location]
synonym: "benign neck neoplasm" EXACT [NCIT:C4884]
synonym: "benign neck tumor" EXACT [NCIT:C4884]
synonym: "benign neoplasm of the neck" EXACT [NCIT:C4884]
synonym: "benign tumor of neck" EXACT [NCIT:C4884]
synonym: "benign tumor of the neck" EXACT [NCIT:C4884]
synonym: "neck benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:229.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4884 {source="MONDO:equivalentTo"}
xref: SCTID:92246000 {source="MONDO:equivalentTo"}
xref: UMLS:C0684815 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4884"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021351 {source="MONDO:Redundant", source="NCIT:C4884", source="linkedlifedata"} ! neoplasm of neck
property_value: exactMatch http://identifiers.org/snomedct/92246000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684815
property_value: exactMatch NCIT:C4884

[Term]
id: MONDO:0021456
name: benign neoplasm of sternum
def: "A benign neoplasm that involves the sternum." [MONDO:patterns/location]
synonym: "benign neoplasm of the sternum" EXACT [NCIT:C8416]
synonym: "benign sternal neoplasm" EXACT [NCIT:C8416]
synonym: "benign sternal tumor" EXACT [NCIT:C8416]
synonym: "benign tumor of sternum" EXACT [NCIT:C8416]
synonym: "benign tumor of the sternum" EXACT [NCIT:C8416]
synonym: "sternum benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8416 {source="MONDO:equivalentTo"}
xref: SCTID:92410006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347312 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8416"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8416", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0021578 {source="MONDO:Redundant", source="NCIT:C8416", source="linkedlifedata"} ! sternal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92410006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347312
property_value: exactMatch NCIT:C8416

[Term]
id: MONDO:0021457
name: benign neoplasm of pleura
def: "A benign neoplasm that involves the pleura." [MONDO:patterns/location]
synonym: "benign neoplasm of the pleura" EXACT [NCIT:C3603]
synonym: "benign pleural neoplasm" EXACT [NCIT:C3603]
synonym: "benign pleural tumor" EXACT [NCIT:C3603]
synonym: "benign tumor of pleura" EXACT [NCIT:C3603]
synonym: "benign tumor of the pleura" EXACT [NCIT:C3603]
synonym: "pleura benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3603 {source="MONDO:equivalentTo"}
xref: SCTID:92298003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153955 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3603"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system benign neoplasm
is_a: MONDO:0021065 {source="MONDO:Redundant", source="MONDOLEX:0021457", source="NCIT:C3603", source="linkedlifedata"} ! pleural neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92298003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153955
property_value: exactMatch NCIT:C3603

[Term]
id: MONDO:0021458
name: benign neoplasm of penis
def: "A benign neoplasm that involves the penis." [MONDO:patterns/location]
synonym: "benign neoplasm of the penis" EXACT [NCIT:C3489]
synonym: "benign penile neoplasm" EXACT [NCIT:C3489]
synonym: "benign penile tumor" EXACT [NCIT:C3489]
synonym: "benign tumor of penis" EXACT [NCIT:C3489]
synonym: "benign tumor of the penis" EXACT [NCIT:C3489]
synonym: "penis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D29.0 {source="MONDO:equivalentTo"}
xref: ICD9:222.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3489 {source="MONDO:equivalentTo"}
xref: SCTID:92286008 {source="MONDO:equivalentTo"}
xref: UMLS:C0149627 {source="MONDO:equivalentTo", source="NCIT:C3489"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0006895 {source="MONDO:Redundant", source="NCIT:C3489", source="linkedlifedata"} ! penile neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92286008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149627
property_value: exactMatch NCIT:C3489

[Term]
id: MONDO:0021459
name: benign neoplasm of esophagus
def: "A benign neoplasm that involves the esophagus." [MONDO:patterns/location]
synonym: "benign esophageal neoplasm" EXACT [NCIT:C3598]
synonym: "benign esophageal tumor" EXACT [NCIT:C3598]
synonym: "benign esophagus neoplasm" EXACT [NCIT:C3598]
synonym: "benign esophagus tumor" EXACT [NCIT:C3598]
synonym: "benign neoplasm of the esophagus" EXACT [NCIT:C3598]
synonym: "benign tumor of esophagus" EXACT [NCIT:C3598]
synonym: "benign tumor of the esophagus" EXACT [NCIT:C3598]
synonym: "esophagus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D13.0 {source="MONDO:equivalentTo"}
xref: ICD9:211.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3598 {source="MONDO:equivalentTo"}
xref: SCTID:92091003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153942 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C3598"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3598"} ! benign digestive system neoplasm
is_a: MONDO:0000634 ! thoracic benign neoplasm
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C3598", source="linkedlifedata"} ! neoplasm of esophagus
property_value: exactMatch http://identifiers.org/snomedct/92091003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153942
property_value: exactMatch NCIT:C3598

[Term]
id: MONDO:0021460
name: benign neoplasm of salivary gland
def: "A benign neoplasm that involves the saliva-secreting gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the salivary gland" EXACT [NCIT:C4600]
synonym: "benign salivary gland neoplasm" EXACT [NCIT:C4600]
synonym: "benign salivary gland tumor" EXACT [NCIT:C4600]
synonym: "benign tumor of salivary gland" EXACT [NCIT:C4600]
synonym: "benign tumor of the salivary gland" EXACT [NCIT:C4600]
synonym: "saliva-secreting gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "salivary gland neoplasm, benign" EXACT [NCIT:C4600]
xref: NCIT:C4600 {source="MONDO:equivalentTo"}
xref: SCTID:255154009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347206 {source="MONDO:equivalentTo", source="NCIT:C4600"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4600", source="linkedlifedata"} ! tumor of salivary gland
property_value: exactMatch http://identifiers.org/snomedct/255154009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347206
property_value: exactMatch NCIT:C4600

[Term]
id: MONDO:0021461
name: benign neoplasm of hypopharynx
def: "A benign neoplasm that involves the hypopharynx." [MONDO:patterns/location]
synonym: "benign hypopharyngeal neoplasm" EXACT [NCIT:C3596]
synonym: "benign hypopharyngeal tumor" EXACT [NCIT:C3596]
synonym: "benign neoplasm of the hypopharynx" EXACT [NCIT:C3596]
synonym: "benign tumor of hypopharynx" EXACT [NCIT:C3596]
synonym: "benign tumor of the hypopharynx" EXACT [NCIT:C3596]
synonym: "hypopharyngeal neoplasm, benign" EXACT [NCIT:C3596]
synonym: "hypopharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D10.7 {source="MONDO:equivalentTo"}
xref: ICD9:210.8 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3596 {source="MONDO:equivalentTo"}
xref: SCTID:92139000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153939 {source="MONDO:equivalentTo", source="NCIT:C3596"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0021358 {source="MONDO:Redundant", source="MONDOLEX:0021461", source="NCIT:C3596", source="linkedlifedata"} ! neoplasm of hypopharynx
is_a: MONDO:0021523 {source="MONDO:Redundant", source="MONDOLEX:0021461", source="NCIT:C3596", source="linkedlifedata"} ! benign neoplasm of pharynx
property_value: exactMatch http://identifiers.org/snomedct/92139000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153939
property_value: exactMatch NCIT:C3596

[Term]
id: MONDO:0021462
name: benign neoplasm of rectum
def: "A benign neoplasm that involves the rectum." [MONDO:patterns/location]
synonym: "benign neoplasm of the rectum" EXACT [NCIT:C4774]
synonym: "benign rectal neoplasm" EXACT [NCIT:C4774]
synonym: "benign rectal neoplasms" EXACT [NCIT:C4774]
synonym: "benign rectal tumor" EXACT [NCIT:C4774]
synonym: "benign rectal tumors" EXACT [NCIT:C4774]
synonym: "benign tumor of rectum" EXACT [NCIT:C4774]
synonym: "benign tumor of the rectum" EXACT [NCIT:C4774]
synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774]
synonym: "rectal tumors, benign" EXACT [NCIT:C4774]
synonym: "rectum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D12.8 {source="MONDO:equivalentTo"}
xref: NCIT:C4774 {source="MONDO:equivalentTo"}
xref: SCTID:92318000 {source="MONDO:equivalentTo"}
xref: UMLS:C0496867 {source="MONDO:equivalentTo", source="NCIT:C4774"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C4774", source="linkedlifedata"} ! rectal neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C4774", source="linkedlifedata"} ! benign neoplasm of large intestine
property_value: exactMatch http://identifiers.org/snomedct/92318000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496867
property_value: exactMatch NCIT:C4774

[Term]
id: MONDO:0021463
name: benign neoplasm of parathyroid gland
def: "A benign neoplasm that involves the parathyroid gland." [MONDO:patterns/location]
synonym: "benign neoplasm of parathyroid" EXACT [NCIT:C3630]
synonym: "benign neoplasm of the parathyroid" EXACT [NCIT:C3630]
synonym: "benign neoplasm of the parathyroid gland" EXACT [NCIT:C3630]
synonym: "benign parathyroid gland neoplasm" EXACT [NCIT:C3630]
synonym: "benign parathyroid gland tumor" EXACT [NCIT:C3630]
synonym: "benign parathyroid neoplasm" EXACT [NCIT:C3630]
synonym: "benign parathyroid tumor" EXACT [NCIT:C3630]
synonym: "benign tumor of parathyroid" EXACT [NCIT:C3630]
synonym: "benign tumor of parathyroid gland" EXACT [NCIT:C3630]
synonym: "benign tumor of the parathyroid" EXACT [NCIT:C3630]
synonym: "benign tumor of the parathyroid gland" EXACT [NCIT:C3630]
synonym: "parathyroid gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "parathyroid tumor benign" EXACT [NCIT:C3630]
xref: ICD10:D35.1 {source="MONDO:equivalentTo"}
xref: ICD9:227.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3630 {source="MONDO:equivalentTo"}
xref: SCTID:92272009 {source="MONDO:equivalentTo"}
xref: UMLS:C0154041 {source="MONDO:equivalentTo", source="NCIT:C3630"}
is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata"} ! benign endocrine neoplasm
is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C3630", source="linkedlifedata"} ! tumor of parathyroid gland
property_value: exactMatch http://identifiers.org/snomedct/92272009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154041
property_value: exactMatch NCIT:C3630

[Term]
id: MONDO:0021464
name: benign neoplasm of cecum
def: "A benign neoplasm that involves the caecum." [MONDO:patterns/location]
synonym: "benign cecum neoplasm" EXACT [NCIT:C4772]
synonym: "benign cecum tumor" EXACT [NCIT:C4772]
synonym: "benign neoplasm of the cecum" EXACT [NCIT:C4772]
synonym: "benign tumor of cecum" EXACT [NCIT:C4772]
synonym: "benign tumor of the cecum" EXACT [NCIT:C4772]
synonym: "caecum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D12.0 {source="MONDO:equivalentTo"}
xref: NCIT:C4772 {source="MONDO:equivalentTo"}
xref: SCTID:92040001 {source="MONDO:equivalentTo"}
xref: UMLS:C0496859 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4772"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C4772"} ! benign colon neoplasm
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C4772", source="linkedlifedata"} ! cecal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92040001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496859
property_value: exactMatch NCIT:C4772

[Term]
id: MONDO:0021465
name: benign neoplasm of appendix
def: "A benign neoplasm that involves the vermiform appendix." [MONDO:patterns/location]
synonym: "benign appendix neoplasm" EXACT [NCIT:C4773]
synonym: "benign appendix tumor" EXACT [NCIT:C4773]
synonym: "benign neoplasm of the appendix" EXACT [NCIT:C4773]
synonym: "benign tumor of appendix" EXACT [NCIT:C4773]
synonym: "benign tumor of the appendix" EXACT [NCIT:C4773]
synonym: "vermiform appendix benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D12.1 {source="MONDO:equivalentTo"}
xref: NCIT:C4773 {source="MONDO:equivalentTo"}
xref: SCTID:91981009 {source="MONDO:equivalentTo"}
xref: UMLS:C0496860 {source="MONDO:equivalentTo", source="NCIT:C4773"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C4773", source="linkedlifedata"} ! appendiceal neoplasm
is_a: MONDO:0021464 ! benign neoplasm of cecum
property_value: exactMatch http://identifiers.org/snomedct/91981009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496860
property_value: exactMatch NCIT:C4773

[Term]
id: MONDO:0021467
name: benign neoplasm of renal pelvis
def: "A benign neoplasm that involves the renal pelvis." [MONDO:patterns/location]
synonym: "benign kidney pelvis neoplasm" EXACT [NCIT:C3616]
synonym: "benign neoplasm of the renal pelvis" EXACT [NCIT:C3616]
synonym: "benign renal pelvis neoplasm" EXACT [NCIT:C3616]
synonym: "benign renal pelvis tumor" EXACT [NCIT:C3616]
synonym: "benign tumor of renal pelvis" EXACT [NCIT:C3616]
synonym: "benign tumor of the renal pelvis" EXACT [NCIT:C3616]
synonym: "renal pelvis benign neoplasm" EXACT [MONDO:patterns/location]
xref: EFO:1000118 {source="MONDO:equivalentTo"}
xref: ICD9:223.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3616 {source="MONDO:equivalentTo"}
xref: SCTID:92319008 {source="MONDO:equivalentTo"}
xref: UMLS:C0154015 {source="NCIT:C3616", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002513 {source="MONDO:Redundant", source="NCIT:C3616", source="linkedlifedata"} ! kidney benign neoplasm
is_a: MONDO:0003719 {source="MONDO:Redundant", source="MONDOLEX:0021467", source="NCIT:C3616", source="linkedlifedata"} ! renal pelvis neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92319008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154015
property_value: exactMatch NCIT:C3616

[Term]
id: MONDO:0021468
name: benign neoplasm of adrenal medulla
def: "A benign neoplasm that involves the adrenal medulla." [MONDO:patterns/location]
synonym: "adrenal medulla benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign adrenal medulla neoplasm" EXACT [NCIT:C4895]
synonym: "benign adrenal medulla tumor" EXACT [NCIT:C4895]
synonym: "benign neoplasm of the adrenal medulla" EXACT [NCIT:C4895]
synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895]
synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895]
xref: NCIT:C4895 {source="MONDO:equivalentTo"}
xref: SCTID:91968002 {source="MONDO:equivalentTo"}
xref: UMLS:C0686512 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4895"}
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4895"} ! adrenal medulla neoplasm
is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C4895", source="linkedlifedata"} ! benign neoplasm of adrenal gland
property_value: exactMatch http://identifiers.org/snomedct/91968002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686512
property_value: exactMatch NCIT:C4895

[Term]
id: MONDO:0021469
name: benign neoplasm of anus
def: "A benign neoplasm that involves the anus." [MONDO:patterns/location]
synonym: "anus benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign anal neoplasm" EXACT [NCIT:C4611]
synonym: "benign anal tumor" EXACT [NCIT:C4611]
synonym: "benign neoplasm of the anus" EXACT [NCIT:C4611]
synonym: "benign tumor of anus" EXACT [NCIT:C4611]
synonym: "benign tumor of the anus" EXACT [NCIT:C4611]
xref: NCIT:C4611 {source="MONDO:equivalentTo"}
xref: SCTID:91978004 {source="MONDO:equivalentTo"}
xref: UMLS:C0347276 {source="MONDO:equivalentTo", source="NCIT:C4611"}
is_a: MONDO:0003046 {source="MONDO:Redundant", source="NCIT:C4611", source="linkedlifedata"} ! anus neoplasm
is_a: MONDO:0021462 ! benign neoplasm of rectum
property_value: exactMatch http://identifiers.org/snomedct/91978004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347276
property_value: exactMatch NCIT:C4611

[Term]
id: MONDO:0021470
name: benign neoplasm of pancreas
def: "A benign neoplasm that involves the pancreas." [MONDO:patterns/location]
synonym: "benign neoplasm of the pancreas" EXACT [NCIT:C4612]
synonym: "benign pancreas neoplasm" EXACT [NCIT:C4612]
synonym: "benign pancreas tumor" EXACT [NCIT:C4612]
synonym: "benign pancreatic neoplasm" EXACT [NCIT:C4612]
synonym: "benign pancreatic neoplasm NOS" RELATED EXCLUDE [NCIT:C4612]
synonym: "benign pancreatic tumor" EXACT [NCIT:C4612]
synonym: "benign tumor of pancreas" EXACT [NCIT:C4612]
synonym: "benign tumor of the pancreas" EXACT [NCIT:C4612]
synonym: "pancreas benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "pancreas neoplasm, benign" EXACT [NCIT:C4612]
synonym: "pancreas tumor, benign" EXACT [NCIT:C4612]
synonym: "pancreatic neoplasm, benign" EXACT [NCIT:C4612]
synonym: "pancreatic tumor, benign" EXACT [NCIT:C4612]
xref: ICD10:D13.6 {source="MONDO:equivalentTo"}
xref: NCIT:C4612 {source="MONDO:equivalentTo"}
xref: SCTID:92264007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347284 {source="MONDO:equivalentTo", source="NCIT:C4612"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4612", source="linkedlifedata"} ! pancreatic neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92264007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347284
property_value: exactMatch NCIT:C4612

[Term]
id: MONDO:0021471
name: benign neoplasm of endometrium
def: "A benign neoplasm that involves the endometrium." [MONDO:patterns/location]
synonym: "benign endometrial neoplasm" EXACT [NCIT:C4894]
synonym: "benign endometrial tumor" EXACT [NCIT:C4894]
synonym: "benign endometrium neoplasm" EXACT [NCIT:C4894]
synonym: "benign endometrium tumor" EXACT [NCIT:C4894]
synonym: "benign neoplasm of the endometrium" EXACT [NCIT:C4894]
synonym: "benign tumor of endometrium" EXACT [NCIT:C4894]
synonym: "benign tumor of the endometrium" EXACT [NCIT:C4894]
synonym: "endometrium benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4894 {source="MONDO:equivalentTo"}
xref: SCTID:92086004 {source="MONDO:equivalentTo"}
xref: UMLS:C0686239 {source="MONDO:equivalentTo", source="NCIT:C4894"}
is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C4894/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine benign neoplasm
is_a: MONDO:0021251 {source="MONDO:Redundant", source="NCIT:C4894", source="linkedlifedata"} ! endometrium neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92086004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686239
property_value: exactMatch NCIT:C4894

[Term]
id: MONDO:0021472
name: benign neoplasm of scrotum
def: "A benign neoplasm that involves the scrotum." [MONDO:patterns/location]
synonym: "benign neoplasm of the scrotum" EXACT [NCIT:C3615]
synonym: "benign scrotal neoplasm" EXACT [NCIT:C3615]
synonym: "benign scrotal tumor" EXACT [NCIT:C3615]
synonym: "benign tumor of scrotum" EXACT [NCIT:C3615]
synonym: "benign tumor of the scrotum" EXACT [NCIT:C3615]
synonym: "scrotum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D29.4 {source="MONDO:equivalentTo"}
xref: ICD9:222.4 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3615 {source="MONDO:equivalentTo"}
xref: SCTID:92336000 {source="MONDO:equivalentTo"}
xref: UMLS:C0154011 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3615"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0003319 {source="MONDO:Redundant", source="NCIT:C3615", source="linkedlifedata"} ! scrotum neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92336000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154011
property_value: exactMatch NCIT:C3615

[Term]
id: MONDO:0021473
name: benign neoplasm of epididymis
def: "A benign neoplasm that involves the epididymis." [MONDO:patterns/location]
synonym: "benign epididymal neoplasm" EXACT [NCIT:C3614]
synonym: "benign epididymal tumor" EXACT [NCIT:C3614]
synonym: "benign neoplasm of the epididymis" EXACT [NCIT:C3614]
synonym: "benign tumor of epididymis" EXACT [NCIT:C3614]
synonym: "benign tumor of the epididymis" EXACT [NCIT:C3614]
synonym: "epididymis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:222.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3614 {source="MONDO:equivalentTo"}
xref: SCTID:92088003 {source="MONDO:equivalentTo"}
xref: UMLS:C0154010 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3614"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0003283 {source="MONDO:Redundant", source="NCIT:C3614"} ! epididymal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92088003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154010
property_value: exactMatch NCIT:C3614

[Term]
id: MONDO:0021474
name: benign neoplasm of ear
def: "A benign neoplasm that involves the ear." [MONDO:patterns/location]
synonym: "aural neoplasms, benign" EXACT [NCIT:C8417]
synonym: "benign Ear neoplasm" EXACT [NCIT:C8417]
synonym: "benign Ear tumor" EXACT [NCIT:C8417]
synonym: "benign neoplasm of the Ear" EXACT [NCIT:C8417]
synonym: "benign tumor of Ear" EXACT [NCIT:C8417]
synonym: "benign tumor of the Ear" EXACT [NCIT:C8417]
synonym: "ear benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8417 {source="MONDO:equivalentTo"}
xref: SCTID:255181009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347354 {source="MONDO:equivalentTo", source="NCIT:C8417"}
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C8417"} ! ear neoplasm
property_value: exactMatch http://identifiers.org/snomedct/255181009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347354
property_value: exactMatch NCIT:C8417

[Term]
id: MONDO:0021475
name: benign neoplasm of nasal cavity
def: "A benign neoplasm that involves the nasal cavity." [MONDO:patterns/location]
synonym: "benign nasal cavity neoplasm" EXACT [NCIT:C4603]
synonym: "benign nasal cavity tumor" EXACT [NCIT:C4603]
synonym: "benign neoplasm of the nasal cavity" EXACT [NCIT:C4603]
synonym: "benign tumor of nasal cavity" EXACT [NCIT:C4603]
synonym: "benign tumor of the nasal cavity" EXACT [NCIT:C4603]
synonym: "nasal cavity benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4603 {source="MONDO:equivalentTo"}
xref: SCTID:92241005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347215 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4603"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4603", source="linkedlifedata"} ! nasal cavity neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92241005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347215
property_value: exactMatch NCIT:C4603

[Term]
id: MONDO:0021476
name: benign neoplasm of tongue
def: "A benign neoplasm that involves the tongue." [MONDO:patterns/location]
synonym: "benign neoplasm of the tongue" EXACT [NCIT:C3592]
synonym: "benign tongue neoplasm" EXACT [NCIT:C3592]
synonym: "benign tongue tumor" EXACT [NCIT:C3592]
synonym: "benign tumor of the tongue" EXACT [NCIT:C3592]
synonym: "benign tumor of tongue" EXACT [NCIT:C3592]
synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592]
xref: ICD10:D10.1 {source="MONDO:equivalentTo"}
xref: ICD9:210.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3592 {source="MONDO:equivalentTo"}
xref: SCTID:92443005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153933 {source="NCIT:C3592", source="MONDO:equivalentTo"}
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0021240 {source="MONDO:Redundant", source="NCIT:C3592", source="linkedlifedata"} ! tongue neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92443005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153933
property_value: exactMatch NCIT:C3592

[Term]
id: MONDO:0021477
name: benign neoplasm of sphenoidal sinus
def: "A non-metastasizing neoplasm that arises from the sphenoid sinus." [] {source="NCIT:C4422"}
synonym: "benign neoplasm of sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign neoplasm of the sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign neoplasm of the sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "benign sphenoid sinus neoplasm" EXACT [NCIT:C4422]
synonym: "benign sphenoid sinus tumor" EXACT [NCIT:C4422]
synonym: "benign sphenoidal sinus neoplasm" EXACT [NCIT:C4422]
synonym: "benign sphenoidal sinus tumor" EXACT [NCIT:C4422]
synonym: "benign tumor of sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of the sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of the sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "sphenoidal sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4422 {source="MONDO:equivalentTo"}
xref: SCTID:92404006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4422"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0004047 {source="MONDO:Redundant", source="NCIT:C4422", source="linkedlifedata"} ! sphenoidal sinus neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92404006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345678
property_value: exactMatch NCIT:C4422

[Term]
id: MONDO:0021478
name: benign neoplasm of nasopharynx
def: "A benign neoplasm that involves the nasopharynx." [MONDO:patterns/location]
synonym: "benign nasopharyngeal neoplasm" EXACT [NCIT:C3595]
synonym: "benign nasopharyngeal tumor" EXACT [NCIT:C3595]
synonym: "benign neoplasm of the nasopharynx" EXACT [NCIT:C3595]
synonym: "benign tumor of nasopharynx" EXACT [NCIT:C3595]
synonym: "benign tumor of the nasopharynx" EXACT [NCIT:C3595]
synonym: "nasopharyngeal neoplasm, benign" EXACT [NCIT:C3595]
synonym: "nasopharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D10.6 {source="MONDO:equivalentTo"}
xref: ICD9:210.7 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3595 {source="MONDO:equivalentTo"}
xref: SCTID:188800003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153938 {source="MONDO:equivalentTo", source="NCIT:C3595", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0005375 {source="MONDO:Redundant", source="MONDOLEX:0021478", source="NCIT:C3595", source="linkedlifedata"} ! nasopharyngeal neoplasm
is_a: MONDO:0021523 {source="MONDO:Redundant", source="MONDOLEX:0021478", source="NCIT:C3595", source="linkedlifedata"} ! benign neoplasm of pharynx
property_value: exactMatch http://identifiers.org/snomedct/188800003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153938
property_value: exactMatch NCIT:C3595

[Term]
id: MONDO:0021479
name: benign neoplasm of oropharynx
def: "A benign neoplasm that involves the oropharynx." [MONDO:patterns/location]
synonym: "benign neoplasm of the oropharynx" EXACT [NCIT:C4604]
synonym: "benign oropharyngeal neoplasm" EXACT [NCIT:C4604]
synonym: "benign oropharyngeal tumor" EXACT [NCIT:C4604]
synonym: "benign tumor of oropharynx" EXACT [NCIT:C4604]
synonym: "benign tumor of the oropharynx" EXACT [NCIT:C4604]
synonym: "oropharyngeal neoplasm benign" EXACT [NCIT:C4604]
synonym: "oropharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.6 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4604 {source="MONDO:equivalentTo"}
xref: SCTID:92259008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347229 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000385 ! benign digestive system neoplasm
is_a: MONDO:0021364 {source="MONDO:Redundant", source="MONDOLEX:0021479", source="NCIT:C4604", source="linkedlifedata"} ! neoplasm of oropharynx
is_a: MONDO:0021523 {source="MONDO:Redundant", source="MONDOLEX:0021479", source="NCIT:C4604", source="linkedlifedata"} ! benign neoplasm of pharynx
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0347228
property_value: exactMatch http://identifiers.org/snomedct/92259008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347229
property_value: exactMatch NCIT:C4604

[Term]
id: MONDO:0021480
name: benign neoplasm of soft palate
def: "A benign neoplasm that involves the soft palate." [MONDO:patterns/location]
synonym: "benign neoplasm of the soft palate" EXACT [NCIT:C4404]
synonym: "benign soft palate neoplasm" EXACT [NCIT:C4404]
synonym: "benign soft palate tumor" EXACT [NCIT:C4404]
synonym: "benign tumor of soft palate" EXACT [NCIT:C4404]
synonym: "benign tumor of the soft palate" EXACT [NCIT:C4404]
synonym: "soft palate benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4404 {source="MONDO:equivalentTo"}
xref: SCTID:92386006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345557 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4404"}
is_a: MONDO:0005286 ! palatal neoplasm
is_a: MONDO:0021445 ! benign neoplasm of oral cavity
property_value: exactMatch http://identifiers.org/snomedct/92386006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345557
property_value: exactMatch NCIT:C4404

[Term]
id: MONDO:0021481
name: benign neoplasm of submandibular gland
def: "A benign neoplasm that involves the submandibular gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the submandibular gland" EXACT [NCIT:C4891]
synonym: "benign submandibular gland neoplasm" EXACT [NCIT:C4891]
synonym: "benign submandibular gland tumor" EXACT [NCIT:C4891]
synonym: "benign tumor of submandibular gland" EXACT [NCIT:C4891]
synonym: "benign tumor of the submandibular gland" EXACT [NCIT:C4891]
synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4891 {source="MONDO:equivalentTo"}
xref: SCTID:92415001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685988 {source="NCIT:C4891", source="MONDO:equivalentTo"}
is_a: MONDO:0021244 {source="MONDO:Redundant", source="NCIT:C4891", source="linkedlifedata"} ! submandibular gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4891"} ! benign neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/snomedct/92415001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685988
property_value: exactMatch NCIT:C4891

[Term]
id: MONDO:0021482
name: benign neoplasm of middle ear
def: "A benign neoplasm that involves the middle ear." [MONDO:patterns/location]
synonym: "benign middle Ear neoplasm" EXACT [NCIT:C4602]
synonym: "benign middle Ear tumor" EXACT [NCIT:C4602]
synonym: "benign neoplasm of the middle Ear" EXACT [NCIT:C4602]
synonym: "benign tumor of middle Ear" EXACT [NCIT:C4602]
synonym: "benign tumor of the middle Ear" EXACT [NCIT:C4602]
synonym: "middle ear benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4602 {source="MONDO:equivalentTo"}
xref: SCTID:92218002 {source="MONDO:equivalentTo"}
xref: UMLS:C0347213 {source="MONDO:equivalentTo", source="NCIT:C4602"}
is_a: MONDO:0021366 {source="MONDO:Redundant", source="MONDOLEX:0021482", source="NCIT:C4602", source="linkedlifedata"} ! neoplasm of middle ear
is_a: MONDO:0021474 {source="MONDO:Redundant", source="MONDOLEX:0021482", source="NCIT:C4602", source="linkedlifedata"} ! benign neoplasm of ear
property_value: exactMatch http://identifiers.org/snomedct/92218002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347213
property_value: exactMatch NCIT:C4602

[Term]
id: MONDO:0021483
name: benign neoplasm of frontal sinus
def: "A benign neoplasm that involves the frontal sinus." [MONDO:patterns/location]
synonym: "benign frontal sinus neoplasm" EXACT [NCIT:C4420]
synonym: "benign frontal sinus tumor" EXACT [NCIT:C4420]
synonym: "benign neoplasm of the frontal sinus" EXACT [NCIT:C4420]
synonym: "benign tumor of frontal sinus" EXACT [NCIT:C4420]
synonym: "benign tumor of the frontal sinus" EXACT [NCIT:C4420]
synonym: "frontal sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4420 {source="MONDO:equivalentTo"}
xref: SCTID:92115005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345674 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4420"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0001757 {source="MONDO:Redundant", source="NCIT:C4420", source="linkedlifedata"} ! frontal sinus neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92115005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345674
property_value: exactMatch NCIT:C4420

[Term]
id: MONDO:0021484
name: benign neoplasm of maxillary sinus
def: "A benign neoplasm that involves the maxillary sinus." [MONDO:patterns/location]
synonym: "benign maxillary antrum neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillary antrum tumor" EXACT [NCIT:C4414]
synonym: "benign maxillary sinus neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillary sinus tumor" EXACT [NCIT:C4414]
synonym: "benign maxillofacial sinus neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillofacial sinus tumor" EXACT [NCIT:C4414]
synonym: "benign neoplasm of maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign neoplasm of maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "maxillary sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4414 {source="MONDO:equivalentTo"}
xref: SCTID:92211008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345666 {source="MONDO:equivalentTo", source="NCIT:C4414"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0006850 {source="MONDO:Redundant", source="NCIT:C4414", source="linkedlifedata"} ! maxillary sinus neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92211008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345666
property_value: exactMatch NCIT:C4414

[Term]
id: MONDO:0021485
name: benign neoplasm of iris
def: "A benign neoplasm that involves the iris." [MONDO:patterns/location]
synonym: "benign iris neoplasm" EXACT [NCIT:C4555]
synonym: "benign iris tumor" EXACT [NCIT:C4555]
synonym: "benign neoplasm of the iris" EXACT [NCIT:C4555]
synonym: "benign tumor of iris" EXACT [NCIT:C4555]
synonym: "benign tumor of the iris" EXACT [NCIT:C4555]
synonym: "iris benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4555 {source="MONDO:equivalentTo"}
xref: SCTID:189151003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346374 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="NCIT:C4555"}
is_a: MONDO:0021224 {source="MONDO:Redundant", source="NCIT:C4555"} ! iris neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4555/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/189151003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346374
property_value: exactMatch NCIT:C4555

[Term]
id: MONDO:0021486
name: benign neoplasm of ciliary body
def: "A benign neoplasm that involves the ciliary body." [MONDO:patterns/location]
synonym: "benign ciliary body neoplasm" EXACT [NCIT:C4779]
synonym: "benign ciliary body tumor" EXACT [NCIT:C4779]
synonym: "benign neoplasm of the ciliary body" EXACT [NCIT:C4779]
synonym: "benign tumor of ciliary body" EXACT [NCIT:C4779]
synonym: "benign tumor of the ciliary body" EXACT [NCIT:C4779]
synonym: "ciliary body benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4779 {source="MONDO:equivalentTo"}
xref: SCTID:92060009 {source="MONDO:equivalentTo"}
xref: UMLS:C0496894 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="NCIT:C4779"}
is_a: MONDO:0021229 {source="MONDO:Redundant", source="NCIT:C4779"} ! ciliary body neoplasm
is_a: MONDO:0021485 ! benign neoplasm of iris
property_value: exactMatch http://identifiers.org/snomedct/92060009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496894
property_value: exactMatch NCIT:C4779

[Term]
id: MONDO:0021487
name: benign neoplasm of choroid
def: "A benign neoplasm that involves the optic choroid." [MONDO:patterns/location]
synonym: "benign choroid neoplasm" EXACT [NCIT:C3625]
synonym: "benign choroid tumor" EXACT [NCIT:C3625]
synonym: "benign neoplasm of the choroid" EXACT [NCIT:C3625]
synonym: "benign tumor of choroid" EXACT [NCIT:C3625]
synonym: "benign tumor of the choroid" EXACT [NCIT:C3625]
synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.6 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3625 {source="MONDO:equivalentTo"}
xref: SCTID:92059004 {source="MONDO:equivalentTo"}
xref: UMLS:C0154028 {source="MONDO:equivalentTo", source="NCIT:C3625"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3625"} ! choroid neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3625/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of eye
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/92059004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154028
property_value: exactMatch NCIT:C3625

[Term]
id: MONDO:0021488
name: benign neoplasm of lacrimal gland
def: "A benign neoplasm that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "benign lacrimal gland neoplasm" EXACT [NCIT:C3621]
synonym: "benign lacrimal gland tumor" EXACT [NCIT:C3621]
synonym: "benign neoplasm of the lacrimal gland" EXACT [NCIT:C3621]
synonym: "benign tumor of lacrimal gland" EXACT [NCIT:C3621]
synonym: "benign tumor of the lacrimal gland" EXACT [NCIT:C3621]
synonym: "lacrimal gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3621 {source="MONDO:equivalentTo"}
xref: SCTID:92169007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154024 {source="MONDO:equivalentTo", source="NCIT:C3621"}
is_a: MONDO:0021222 {source="MONDO:Redundant", source="NCIT:C3621"} ! lacrimal gland neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3621"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/92169007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154024
property_value: exactMatch NCIT:C3621

[Term]
id: MONDO:0021489
name: benign neoplasm of sweat gland
def: "A benign neoplasm that involves the sweat gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the sweat gland" EXACT [NCIT:C4879]
synonym: "benign sweat gland neoplasm" EXACT [NCIT:C4879]
synonym: "benign sweat gland tumor" EXACT [NCIT:C4879]
synonym: "benign tumor of sweat gland" EXACT [NCIT:C4879]
synonym: "benign tumor of the sweat gland" EXACT [NCIT:C4879]
synonym: "sweat gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasm, benign" EXACT [NCIT:C4879]
xref: NCIT:C4879 {source="MONDO:equivalentTo"}
xref: SCTID:92422009 {source="MONDO:equivalentTo"}
xref: UMLS:C0684354 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4879"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C4879", source="linkedlifedata"} ! sweat gland neoplasm
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4879/inferred"} ! benign neoplasm of skin
property_value: exactMatch http://identifiers.org/snomedct/92422009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684354
property_value: exactMatch NCIT:C4879

[Term]
id: MONDO:0021490
name: benign neoplasm of sebaceous gland
def: "A benign neoplasm that involves the sebaceous gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the sebaceous gland" EXACT [NCIT:C8525]
synonym: "benign sebaceous gland neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous gland tumor" EXACT [NCIT:C8525]
synonym: "benign sebaceous neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous skin neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous skin tumor" EXACT [NCIT:C8525]
synonym: "benign sebaceous tumor" EXACT [NCIT:C8525]
synonym: "benign tumor of sebaceous gland" EXACT [NCIT:C8525]
synonym: "benign tumor of the sebaceous gland" EXACT [NCIT:C8525]
synonym: "sebaceous gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8525 {source="MONDO:equivalentTo"}
xref: SCTID:92337009 {source="MONDO:equivalentTo"}
xref: UMLS:C0684358 {source="MONDO:equivalentTo", source="NCIT:C8525", source="MEDGEN:kboom-pr94-c94"}
is_a: MONDO:0006963 {source="MONDO:Redundant", source="NCIT:C8525"} ! sebaceous gland neoplasm
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C8525/inferred"} ! benign neoplasm of skin
property_value: exactMatch http://identifiers.org/snomedct/92337009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684358
property_value: exactMatch NCIT:C8525

[Term]
id: MONDO:0021491
name: benign neoplasm of gum
def: "A benign neoplasm that involves the gingiva." [MONDO:patterns/location]
synonym: "benign gingival neoplasm" EXACT [NCIT:C4598]
synonym: "benign gingival tumor" EXACT [NCIT:C4598]
synonym: "benign gum neoplasm" EXACT [NCIT:C4598]
synonym: "benign gum tumor" EXACT [NCIT:C4598]
synonym: "benign neoplasm of gingiva" EXACT [NCIT:C4598]
synonym: "benign neoplasm of the gingiva" EXACT [NCIT:C4598]
synonym: "benign neoplasm of the gum" EXACT [NCIT:C4598]
synonym: "benign tumor of gingiva" EXACT [NCIT:C4598]
synonym: "benign tumor of gum" EXACT [NCIT:C4598]
synonym: "benign tumor of the gingiva" EXACT [NCIT:C4598]
synonym: "benign tumor of the gum" EXACT [NCIT:C4598]
synonym: "gingiva benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4598 {source="MONDO:equivalentTo"}
xref: SCTID:92126004 {source="MONDO:equivalentTo"}
xref: UMLS:C0347201 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4598"}
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0021086 {source="MONDO:Redundant", source="NCIT:C4598", source="linkedlifedata"} ! gingival neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92126004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347201
property_value: exactMatch NCIT:C4598

[Term]
id: MONDO:0021492
name: benign neoplasm of major salivary gland
def: "A benign neoplasm that involves the major salivary gland." [MONDO:patterns/location]
synonym: "benign Major salivary gland neoplasm" EXACT [NCIT:C4771]
synonym: "benign Major salivary gland tumor" EXACT [NCIT:C4771]
synonym: "benign neoplasm of the Major salivary gland" EXACT [NCIT:C4771]
synonym: "benign tumor of Major salivary gland" EXACT [NCIT:C4771]
synonym: "benign tumor of the Major salivary gland" EXACT [NCIT:C4771]
synonym: "major salivary gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4771 {source="MONDO:equivalentTo"}
xref: SCTID:92205005 {source="MONDO:equivalentTo"}
xref: UMLS:C0496858 {source="NCIT:C4771", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="MONDOLEX:0021492", source="NCIT:C4771", source="linkedlifedata"} ! neoplasm of major salivary gland
is_a: MONDO:0021460 {source="MONDO:Redundant", source="NCIT:C4771", source="linkedlifedata"} ! benign neoplasm of salivary gland
property_value: exactMatch http://identifiers.org/snomedct/92205005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496858
property_value: exactMatch NCIT:C4771

[Term]
id: MONDO:0021493
name: benign neoplasm of minor salivary gland
def: "A benign neoplasm that involves the minor salivary gland." [MONDO:patterns/location]
synonym: "benign minor salivary gland neoplasm" EXACT [NCIT:C4411]
synonym: "benign minor salivary gland tumor" EXACT [NCIT:C4411]
synonym: "benign neoplasm of the minor salivary gland" EXACT [NCIT:C4411]
synonym: "benign tumor of minor salivary gland" EXACT [NCIT:C4411]
synonym: "benign tumor of the minor salivary gland" EXACT [NCIT:C4411]
synonym: "minor salivary gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4411 {source="MONDO:equivalentTo"}
xref: SCTID:92220004 {source="MONDO:equivalentTo"}
xref: UMLS:C0345615 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4411"}
is_a: MONDO:0021370 {source="MONDO:Redundant", source="MONDOLEX:0021493", source="NCIT:C4411", source="linkedlifedata"} ! neoplasm of minor salivary gland
is_a: MONDO:0021460 {source="MONDO:Redundant", source="NCIT:C4411", source="linkedlifedata"} ! benign neoplasm of salivary gland
property_value: exactMatch http://identifiers.org/snomedct/92220004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345615
property_value: exactMatch NCIT:C4411

[Term]
id: MONDO:0021494
name: benign neoplasm of parotid gland
def: "A benign neoplasm that involves the parotid gland." [MONDO:patterns/location]
synonym: "benign neoplasm of parotid" EXACT [NCIT:C4770]
synonym: "benign neoplasm of the parotid" EXACT [NCIT:C4770]
synonym: "benign neoplasm of the parotid gland" EXACT [NCIT:C4770]
synonym: "benign parotid gland neoplasm" EXACT [NCIT:C4770]
synonym: "benign parotid gland tumor" EXACT [NCIT:C4770]
synonym: "benign parotid neoplasm" EXACT [NCIT:C4770]
synonym: "benign parotid tumor" EXACT [NCIT:C4770]
synonym: "benign tumor of parotid" EXACT [NCIT:C4770]
synonym: "benign tumor of parotid gland" EXACT [NCIT:C4770]
synonym: "benign tumor of the parotid" EXACT [NCIT:C4770]
synonym: "benign tumor of the parotid gland" EXACT [NCIT:C4770]
synonym: "parotid gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D11.0 {source="MONDO:equivalentTo"}
xref: NCIT:C4770 {source="MONDO:equivalentTo"}
xref: SCTID:92279000 {source="MONDO:equivalentTo"}
xref: UMLS:C0496857 {source="NCIT:C4770", source="MONDO:equivalentTo"}
is_a: MONDO:0021243 {source="MONDO:Redundant", source="NCIT:C4770", source="linkedlifedata"} ! parotid gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4770", source="linkedlifedata"} ! benign neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/snomedct/92279000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496857
property_value: exactMatch NCIT:C4770

[Term]
id: MONDO:0021495
name: benign neoplasm of sublingual gland
def: "A benign neoplasm that involves the sublingual gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the sublingual gland" EXACT [NCIT:C4601]
synonym: "benign sublingual gland neoplasm" EXACT [NCIT:C4601]
synonym: "benign sublingual gland tumor" EXACT [NCIT:C4601]
synonym: "benign tumor of sublingual gland" EXACT [NCIT:C4601]
synonym: "benign tumor of the sublingual gland" EXACT [NCIT:C4601]
synonym: "sublingual gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4601 {source="MONDO:equivalentTo"}
xref: SCTID:92413008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4601"}
is_a: MONDO:0021242 {source="MONDO:Redundant", source="NCIT:C4601", source="linkedlifedata"} ! sublingual gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4601", source="linkedlifedata"} ! benign neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/snomedct/92413008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347208
property_value: exactMatch NCIT:C4601

[Term]
id: MONDO:0021496
name: benign neoplasm of lip
def: "A benign neoplasm that involves the lip." [MONDO:patterns/location]
synonym: "benign Lip neoplasm" EXACT [NCIT:C3591]
synonym: "benign Lip tumor" EXACT [NCIT:C3591]
synonym: "benign neoplasm of the Lip" EXACT [NCIT:C3591]
synonym: "benign tumor of Lip" EXACT [NCIT:C3591]
synonym: "benign tumor of the Lip" EXACT [NCIT:C3591]
synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "lip neoplasm, benign" EXACT [NCIT:C3591]
xref: ICD10:D10.0 {source="MONDO:equivalentTo"}
xref: ICD9:210.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3591 {source="MONDO:equivalentTo"}
xref: SCTID:92185002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153932 {source="NCIT:C3591", source="MONDO:equivalentTo"}
is_a: MONDO:0000652 ! integumentary system benign neoplasm
is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C3591", source="linkedlifedata"} ! lip neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92185002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153932
property_value: exactMatch NCIT:C3591

[Term]
id: MONDO:0021497
name: benign neoplasm of cerebrum
def: "A benign neoplasm that involves the telencephalon." [MONDO:patterns/location]
synonym: "benign cerebral hemispheric neoplasm" EXACT [NCIT:C8548]
synonym: "benign cerebral hemispheric tumor" EXACT [NCIT:C8548]
synonym: "benign cerebral neoplasm" EXACT [NCIT:C8548]
synonym: "benign cerebral tumor" EXACT [NCIT:C8548]
synonym: "benign neoplasm of cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign neoplasm of the cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign neoplasm of the cerebrum" EXACT [NCIT:C8548]
synonym: "benign tumor of cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign tumor of cerebrum" EXACT [NCIT:C8548]
synonym: "benign tumor of the cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign tumor of the cerebrum" EXACT [NCIT:C8548]
synonym: "telencephalon benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8548 {source="MONDO:equivalentTo"}
xref: SCTID:275269004 {source="MONDO:equivalentTo"}
xref: UMLS:C0686378 {source="MONDO:equivalentTo", source="NCIT:C8548"}
is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C8548", source="NCIT:C8548/inferred", source="linkedlifedata"} ! neoplasm of cerebral hemisphere
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C8548/inferred", source="linkedlifedata"} ! benign neoplasm of brain
property_value: exactMatch http://identifiers.org/snomedct/275269004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686378
property_value: exactMatch NCIT:C8548

[Term]
id: MONDO:0021498
name: benign neoplasm of placenta
def: "A benign neoplasm that involves the placenta." [MONDO:patterns/location]
synonym: "benign neoplasm of the placenta" EXACT [NCIT:C8545]
synonym: "benign placenta neoplasm" EXACT [NCIT:C8545]
synonym: "benign placenta tumor" EXACT [NCIT:C8545]
synonym: "benign placental neoplasm" EXACT [NCIT:C8545]
synonym: "benign placental tumor" EXACT [NCIT:C8545]
synonym: "benign tumor of placenta" EXACT [NCIT:C8545]
synonym: "benign tumor of the placenta" EXACT [NCIT:C8545]
synonym: "placenta benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "placental neoplasms, benign" EXACT [NCIT:C8545]
xref: ICD9:219.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8545 {source="MONDO:equivalentTo"}
xref: SCTID:92297008 {source="MONDO:equivalentTo"}
xref: UMLS:C0686274 {source="MONDO:equivalentTo", source="NCIT:C8545"}
is_a: MONDO:0000632 ! uterine benign neoplasm
is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C8545"} ! placenta neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92297008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686274
property_value: exactMatch NCIT:C8545

[Term]
id: MONDO:0021499
name: benign neoplasm of cerebellum
def: "A benign neoplasm that involves the cerebellum." [MONDO:patterns/location]
synonym: "benign cerebellar neoplasm" EXACT [NCIT:C4955]
synonym: "benign cerebellar neoplasms" EXACT [NCIT:C4955]
synonym: "benign cerebellar tumor" EXACT [NCIT:C4955]
synonym: "benign neoplasm of the cerebellum" EXACT [NCIT:C4955]
synonym: "benign tumor of cerebellum" EXACT [NCIT:C4955]
synonym: "benign tumor of the cerebellum" EXACT [NCIT:C4955]
synonym: "cerebellar neoplasms, benign" EXACT [NCIT:C4955]
synonym: "cerebellum benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasms, benign, cerebellar" EXACT [NCIT:C4955]
synonym: "neoplasms, cerebellar, benign" EXACT [NCIT:C4955]
xref: NCIT:C4955 {source="MONDO:equivalentTo"}
xref: SCTID:92050000 {source="MONDO:equivalentTo"}
is_a: MONDO:0002913 {source="MONDO:Redundant", source="NCIT:C4955", source="linkedlifedata"} ! cerebellar neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C4955/inferred", source="linkedlifedata"} ! benign neoplasm of brain
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750995
property_value: exactMatch http://identifiers.org/snomedct/92050000
property_value: exactMatch NCIT:C4955

[Term]
id: MONDO:0021500
name: benign neoplasm of spleen
def: "A benign neoplasm that involves the spleen." [MONDO:patterns/location]
synonym: "benign neoplasm of the spleen" EXACT [NCIT:C4902]
synonym: "benign splenic neoplasm" EXACT [NCIT:C4902]
synonym: "spleen benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:211.9 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4902 {source="MONDO:equivalentTo"}
xref: SCTID:92408009 {source="MONDO:equivalentTo"}
xref: UMLS:C0686615 {source="MONDO:equivalentTo", source="NCIT:C4902"}
is_a: MONDO:0000630 ! immune system organ benign neoplasm
is_a: MONDO:0036696 ! spleen neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92408009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686615
property_value: exactMatch NCIT:C4902

[Term]
id: MONDO:0021501
name: benign neoplasm of small intestine
def: "A benign neoplasm that involves the small intestine." [MONDO:patterns/location]
synonym: "benign neoplasm of the small intestine" EXACT [NCIT:C3600]
synonym: "benign small intestinal neoplasm" EXACT [NCIT:C3600]
synonym: "benign small intestinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3600]
synonym: "benign small intestinal tumor" EXACT [NCIT:C3600]
synonym: "benign small intestine neoplasm" EXACT [NCIT:C3600]
synonym: "benign small intestine tumor" EXACT [NCIT:C3600]
synonym: "benign tumor of small intestine" EXACT [NCIT:C3600]
synonym: "benign tumor of the small intestine" EXACT [NCIT:C3600]
synonym: "small intestine benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:211.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3600 {source="MONDO:equivalentTo"}
xref: SCTID:92385005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153944 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3600"}
is_a: MONDO:0003062 {source="MONDO:Redundant", source="MONDOLEX:0021501", source="NCIT:C3600", source="linkedlifedata"} ! intestinal benign neoplasm
is_a: MONDO:0004251 {source="MONDO:Redundant", source="MONDOLEX:0021501", source="NCIT:C3600", source="linkedlifedata"} ! small intestine neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92385005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153944
property_value: exactMatch NCIT:C3600

[Term]
id: MONDO:0021503
name: benign neoplasm of gallbladder
def: "A benign neoplasm that involves the gall bladder." [MONDO:patterns/location]
synonym: "benign gallbladder neoplasm" EXACT [NCIT:C4440]
synonym: "benign gallbladder tumor" EXACT [NCIT:C4440]
synonym: "benign neoplasm of the gallbladder" EXACT [NCIT:C4440]
synonym: "benign tumor of gallbladder" EXACT [NCIT:C4440]
synonym: "benign tumor of the gallbladder" EXACT [NCIT:C4440]
synonym: "gall bladder benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "gallbladder benign neoplasm" EXACT [NCIT:C4440]
synonym: "gallbladder benign tumor" EXACT [NCIT:C4440]
xref: NCIT:C4440 {source="MONDO:equivalentTo"}
xref: SCTID:92117002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345912 {source="MEDGEN:kboom-pr98-c98", source="NCIT:C4440", source="MONDO:equivalentTo"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C4440"} ! benign digestive system neoplasm
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C4440"} ! gallbladder neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92117002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345912
property_value: exactMatch NCIT:C4440

[Term]
id: MONDO:0021505
name: benign neoplasm of endocardium
def: "A benign neoplasm that involves the endocardium." [MONDO:patterns/location]
synonym: "benign endocardial neoplasm" EXACT [NCIT:C4608]
synonym: "benign endocardial tumor" EXACT [NCIT:C4608]
synonym: "benign neoplasm of the endocardium" EXACT [NCIT:C4608]
synonym: "benign tumor of endocardium" EXACT [NCIT:C4608]
synonym: "benign tumor of the endocardium" EXACT [NCIT:C4608]
synonym: "endocardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4608 {source="MONDO:equivalentTo"}
xref: SCTID:92083007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347254 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4608", source="MONDO:equivalentTo"}
is_a: MONDO:0021378 {source="MONDO:Redundant", source="NCIT:C4608", source="linkedlifedata"} ! neoplasm of endocardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C4608", source="linkedlifedata"} ! benign neoplasm of heart
property_value: exactMatch http://identifiers.org/snomedct/92083007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347254
property_value: exactMatch NCIT:C4608

[Term]
id: MONDO:0021506
name: benign neoplasm of spinal cord
def: "A benign neoplasm that involves the spinal cord." [MONDO:patterns/location]
synonym: "benign neoplasm of the spinal cord" EXACT [NCIT:C3627]
synonym: "benign spinal cord neoplasm" EXACT [NCIT:C3627]
synonym: "benign spinal cord tumor" EXACT [NCIT:C3627]
synonym: "benign tumor of spinal cord" EXACT [NCIT:C3627]
synonym: "benign tumor of the spinal cord" EXACT [NCIT:C3627]
synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627]
xref: ICD10:D33.4 {source="MONDO:equivalentTo"}
xref: ICD9:225.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3627 {source="MONDO:equivalentTo"}
xref: SCTID:92405007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154034 {source="NCIT:C3627", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000628 ! central nervous system organ benign neoplasm
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C3627"} ! spinal cord neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92405007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154034
property_value: exactMatch NCIT:C3627

[Term]
id: MONDO:0021507
name: benign neoplasm of brain stem
def: "A benign neoplasm that involves the brainstem." [MONDO:patterns/location]
synonym: "benign brain stem neoplasm" EXACT [NCIT:C8549]
synonym: "benign brain stem neoplasms" EXACT [NCIT:C8549]
synonym: "benign brain stem tumor" EXACT [NCIT:C8549]
synonym: "benign brainstem neoplasm" EXACT [NCIT:C8549]
synonym: "benign brainstem neoplasms" EXACT [NCIT:C8549]
synonym: "benign brainstem tumor" EXACT [NCIT:C8549]
synonym: "benign brainstem tumors" EXACT [NCIT:C8549]
synonym: "benign neoplasm of brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasm of the brain stem" EXACT [NCIT:C8549]
synonym: "benign neoplasm of the brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasms of brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasms of the brainstem" EXACT [NCIT:C8549]
synonym: "benign tumor of brain stem" EXACT [NCIT:C8549]
synonym: "benign tumor of brainstem" EXACT [NCIT:C8549]
synonym: "benign tumor of the brain stem" EXACT [NCIT:C8549]
synonym: "benign tumor of the brainstem" EXACT [NCIT:C8549]
synonym: "benign tumors of brainstem" EXACT [NCIT:C8549]
synonym: "benign tumors of the brainstem" EXACT [NCIT:C8549]
synonym: "brainstem benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8549 {source="MONDO:equivalentTo"}
xref: SCTID:92029009 {source="MONDO:equivalentTo"}
xref: UMLS:C0686400 {source="MONDO:equivalentTo", source="NCIT:C8549"}
is_a: MONDO:0021228 {source="MONDO:Redundant", source="MONDOLEX:0021507", source="NCIT:C8549/inferred"} ! brainstem neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="MONDOLEX:0021507", source="NCIT:C8549/inferred", source="linkedlifedata"} ! benign neoplasm of brain
property_value: exactMatch http://identifiers.org/snomedct/92029009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686400
property_value: exactMatch NCIT:C8549

[Term]
id: MONDO:0021508
name: benign neoplasm of epicardium
def: "A benign neoplasm that involves the epicardium." [MONDO:patterns/location]
synonym: "benign epicardial neoplasm" EXACT [NCIT:C8535]
synonym: "benign epicardial tumor" EXACT [NCIT:C8535]
synonym: "benign neoplasm of the epicardium" EXACT [NCIT:C8535]
synonym: "benign tumor of epicardium" EXACT [NCIT:C8535]
synonym: "benign tumor of the epicardium" EXACT [NCIT:C8535]
synonym: "epicardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8535 {source="MONDO:equivalentTo"}
xref: SCTID:92087008 {source="MONDO:equivalentTo"}
xref: UMLS:C0685115 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8535"}
is_a: MONDO:0021379 {source="MONDO:Redundant", source="NCIT:C8535", source="linkedlifedata"} ! neoplasm of epicardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C8535", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of heart
is_a: MONDO:0021514 {source="MONDO:Redundant", source="linkedlifedata"} ! benign neoplasm of pericardium
property_value: exactMatch http://identifiers.org/snomedct/92087008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685115
property_value: exactMatch NCIT:C8535

[Term]
id: MONDO:0021509
name: benign neoplasm of myocardium
def: "A benign neoplasm that involves the myocardium." [MONDO:patterns/location]
synonym: "benign myocardial neoplasm" EXACT [NCIT:C4607]
synonym: "benign myocardial tumor" EXACT [NCIT:C4607]
synonym: "benign neoplasm of the myocardium" EXACT [NCIT:C4607]
synonym: "benign tumor of myocardium" EXACT [NCIT:C4607]
synonym: "benign tumor of the myocardium" EXACT [NCIT:C4607]
synonym: "myocardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4607 {source="MONDO:equivalentTo"}
xref: SCTID:92238001 {source="MONDO:equivalentTo"}
xref: UMLS:C0347253 {source="NCIT:C4607", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000636 ! musculoskeletal system benign neoplasm
is_a: MONDO:0021380 {source="MONDO:Redundant", source="NCIT:C4607", source="linkedlifedata"} ! neoplasm of myocardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C4607", source="linkedlifedata"} ! benign neoplasm of heart
property_value: exactMatch http://identifiers.org/snomedct/92238001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347253
property_value: exactMatch NCIT:C4607

[Term]
id: MONDO:0021510
name: benign neoplasm of prostate
def: "A benign neoplasm that involves the prostate gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the prostate" EXACT [NCIT:C3613]
synonym: "benign prostate neoplasm" EXACT [NCIT:C3613]
synonym: "benign prostate tumor" EXACT [NCIT:C3613]
synonym: "benign prostatic neoplasm" EXACT [NCIT:C3613]
synonym: "benign tumor of prostate" EXACT [NCIT:C3613]
synonym: "benign tumor of the prostate" EXACT [NCIT:C3613]
synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D29.1 {source="MONDO:equivalentTo"}
xref: ICD9:222.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3613 {source="MONDO:equivalentTo"}
xref: SCTID:92308005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154009 {source="MONDO:equivalentTo", source="NCIT:C3613"}
is_a: MONDO:0000625 ! benign male reproductive system neoplasm
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C3613"} ! prostate neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92308005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154009
property_value: exactMatch NCIT:C3613

[Term]
id: MONDO:0021511
name: benign neoplasm of adrenal gland
def: "A benign neoplasm that involves the adrenal gland." [MONDO:patterns/location]
synonym: "adrenal gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign adrenal gland neoplasm" EXACT [NCIT:C3629]
synonym: "benign adrenal gland tumor" EXACT [NCIT:C3629]
synonym: "benign adrenal neoplasm" EXACT [NCIT:C3629]
synonym: "benign adrenal tumor" EXACT [NCIT:C3629]
synonym: "benign neoplasm of the adrenal gland" EXACT [NCIT:C3629]
synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629]
synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629]
xref: ICD9:227.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3629 {source="MONDO:equivalentTo"}
xref: SCTID:91967007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154040 {source="NCIT:C3629", source="MONDO:equivalentTo"}
is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata"} ! benign endocrine neoplasm
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C3629"} ! adrenal gland neoplasm
property_value: exactMatch http://identifiers.org/snomedct/91967007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154040
property_value: exactMatch NCIT:C3629

[Term]
id: MONDO:0021512
name: benign neoplasm of thymus
def: "A benign neoplasm that involves the thymus." [MONDO:patterns/location]
synonym: "benign neoplasm of the Thymus" EXACT [NCIT:C4458]
synonym: "benign thymic neoplasm" EXACT [NCIT:C4458]
synonym: "benign thymic tumor" EXACT [NCIT:C4458]
synonym: "benign Thymus neoplasm" EXACT [NCIT:C4458]
synonym: "benign Thymus tumor" EXACT [NCIT:C4458]
synonym: "benign tumor of the Thymus" EXACT [NCIT:C4458]
synonym: "benign tumor of Thymus" EXACT [NCIT:C4458]
synonym: "thymus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D15.0 {source="MONDO:equivalentTo"}
xref: ICD9:212.6 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4458 {source="MONDO:equivalentTo"}
xref: SCTID:92437008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345975 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4458"}
is_a: MONDO:0000627 ! benign endocrine neoplasm
is_a: MONDO:0000630 ! immune system organ benign neoplasm
is_a: MONDO:0000634 ! thoracic benign neoplasm
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C4458", source="linkedlifedata"} ! thymus neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92437008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345975
property_value: exactMatch NCIT:C4458

[Term]
id: MONDO:0021513
name: benign neoplasm of tonsil
def: "A benign neoplasm that involves the tonsil." [MONDO:patterns/location]
synonym: "benign neoplasm of the tonsil" EXACT [NCIT:C3594]
synonym: "benign tonsil neoplasm" EXACT [NCIT:C3594]
synonym: "benign tonsil tumor" EXACT [NCIT:C3594]
synonym: "benign tonsillar neoplasm" EXACT [NCIT:C3594]
synonym: "benign tonsillar tumor" EXACT [NCIT:C3594]
synonym: "benign tumor of the tonsil" EXACT [NCIT:C3594]
synonym: "benign tumor of tonsil" EXACT [NCIT:C3594]
synonym: "tonsil benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tonsillar neoplasm, benign" EXACT [NCIT:C3594]
xref: ICD10:D10.4 {source="MONDO:equivalentTo"}
xref: ICD9:210.5 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3594 {source="MONDO:equivalentTo"}
xref: SCTID:92263001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153936 {source="NCIT:C3594", source="MONDO:equivalentTo"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0021250 {source="MONDO:Redundant", source="NCIT:C3594", source="linkedlifedata"} ! tonsil neoplasm
is_a: MONDO:0021523 {source="MONDO:Redundant", source="NCIT:C3594/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of pharynx
property_value: exactMatch http://identifiers.org/snomedct/92263001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153936
property_value: exactMatch NCIT:C3594

[Term]
id: MONDO:0021514
name: benign neoplasm of pericardium
def: "A benign neoplasm that involves the pericardium." [MONDO:patterns/location]
synonym: "benign neoplasm of the pericardium" EXACT [NCIT:C8536]
synonym: "benign pericardial neoplasm" EXACT [NCIT:C8536]
synonym: "benign pericardial tumor" EXACT [NCIT:C8536]
synonym: "benign tumor of pericardium" EXACT [NCIT:C8536]
synonym: "benign tumor of the pericardium" EXACT [NCIT:C8536]
synonym: "pericardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C8536 {source="MONDO:equivalentTo"}
xref: SCTID:92289001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685118 {source="MONDO:equivalentTo", source="NCIT:C8536"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8536", source="NCIT:C8536/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C8536", source="linkedlifedata"} ! neoplasm of pericardium
property_value: exactMatch http://identifiers.org/snomedct/92289001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685118
property_value: exactMatch NCIT:C8536

[Term]
id: MONDO:0021515
name: benign neoplasm of ethmoidal sinus
def: "A benign neoplasm that involves the ethmoid sinus." [MONDO:patterns/location]
synonym: "benign ethmoid sinus neoplasm" EXACT [NCIT:C4417]
synonym: "benign ethmoid sinus tumor" EXACT [NCIT:C4417]
synonym: "benign ethmoidal sinus neoplasm" EXACT [NCIT:C4417]
synonym: "benign ethmoidal sinus tumor" EXACT [NCIT:C4417]
synonym: "benign neoplasm of ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign neoplasm of the ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign neoplasm of the ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of the ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of the ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "ethmoid sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4417 {source="MONDO:equivalentTo"}
xref: SCTID:92093000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345670 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4417"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0000633 ! sensory organ benign neoplasm
is_a: MONDO:0001764 {source="MONDO:Redundant", source="NCIT:C4417", source="linkedlifedata"} ! ethmoidal sinus neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92093000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345670
property_value: exactMatch NCIT:C4417

[Term]
id: MONDO:0021516
name: benign neoplasm of glottis
def: "A benign neoplasm that involves the glottis." [MONDO:patterns/location]
synonym: "benign glottis neoplasm" EXACT [NCIT:C4605]
synonym: "benign glottis tumor" EXACT [NCIT:C4605]
synonym: "benign neoplasm of the glottis" EXACT [NCIT:C4605]
synonym: "benign tumor of glottis" EXACT [NCIT:C4605]
synonym: "benign tumor of the glottis" EXACT [NCIT:C4605]
synonym: "glottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4605 {source="MONDO:equivalentTo"}
xref: SCTID:92123007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347234 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4605"}
is_a: MONDO:0002353 {source="MONDO:Redundant", source="NCIT:C4605", source="linkedlifedata"} ! glottis neoplasm
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4605", source="linkedlifedata"} ! benign laryngeal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92123007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347234
property_value: exactMatch NCIT:C4605

[Term]
id: MONDO:0021517
name: benign neoplasm of trachea
def: "A benign neoplasm that involves the trachea." [MONDO:patterns/location]
synonym: "benign neoplasm of the trachea" EXACT [NCIT:C3602]
synonym: "benign trachea neoplasm" EXACT [NCIT:C3602]
synonym: "benign trachea tumor" EXACT [NCIT:C3602]
synonym: "benign tracheal neoplasm" EXACT [NCIT:C3602]
synonym: "benign tracheal tumor" EXACT [NCIT:C3602]
synonym: "benign tumor of the trachea" EXACT [NCIT:C3602]
synonym: "benign tumor of trachea" EXACT [NCIT:C3602]
synonym: "trachea benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D14.2 {source="MONDO:equivalentTo"}
xref: ICD9:212.2 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3602 {source="MONDO:equivalentTo"}
xref: SCTID:92446002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153953 {source="MONDO:equivalentTo", source="NCIT:C3602"}
is_a: MONDO:0000382 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm
is_a: MONDO:0021210 {source="MONDO:Redundant", source="MONDOLEX:0021517", source="NCIT:C3602"} ! trachea neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92446002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153953
property_value: exactMatch NCIT:C3602

[Term]
id: MONDO:0021518
name: benign neoplasm of hard palate
def: "A benign neoplasm that involves the hard palate." [MONDO:patterns/location]
synonym: "benign hard palate neoplasm" EXACT [NCIT:C4403]
synonym: "benign hard palate tumor" EXACT [NCIT:C4403]
synonym: "benign neoplasm of the hard palate" EXACT [NCIT:C4403]
synonym: "benign tumor of hard palate" EXACT [NCIT:C4403]
synonym: "benign tumor of the hard palate" EXACT [NCIT:C4403]
synonym: "hard palate benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4403 {source="MONDO:equivalentTo"}
xref: SCTID:92129006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345552 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4403"}
is_a: MONDO:0005286 ! palatal neoplasm
is_a: MONDO:0021445 ! benign neoplasm of oral cavity
property_value: exactMatch http://identifiers.org/snomedct/92129006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345552
property_value: exactMatch NCIT:C4403

[Term]
id: MONDO:0021520
name: benign neoplasm of floor of mouth
def: "A benign neoplasm that involves the mouth floor." [MONDO:patterns/location]
synonym: "benign floor of mouth neoplasm" EXACT [NCIT:C3593]
synonym: "benign floor of mouth tumor" EXACT [NCIT:C3593]
synonym: "benign floor of the mouth neoplasm" EXACT [NCIT:C3593]
synonym: "benign floor of the mouth tumor" EXACT [NCIT:C3593]
synonym: "benign neoplasm of the floor of the mouth" EXACT [NCIT:C3593]
synonym: "benign tumor of floor of mouth" EXACT [NCIT:C3593]
synonym: "benign tumor of the floor of the mouth" EXACT [NCIT:C3593]
synonym: "mouth floor benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D10.2 {source="MONDO:equivalentTo"}
xref: ICD9:210.3 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3593 {source="MONDO:equivalentTo"}
xref: SCTID:92109005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153934 {source="NCIT:C3593", source="MONDO:equivalentTo"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021383 {source="MONDO:Redundant", source="NCIT:C3593", source="linkedlifedata"} ! neoplasm of floor of mouth
property_value: exactMatch http://identifiers.org/snomedct/92109005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153934
property_value: exactMatch NCIT:C3593

[Term]
id: MONDO:0021521
name: benign neoplasm of mediastinum
def: "A benign neoplasm that involves the mediastinum." [MONDO:patterns/location]
synonym: "benign mediastinal neoplasm" EXACT [NCIT:C3604]
synonym: "benign mediastinal neoplasms NOS" RELATED EXCLUDE [NCIT:C3604]
synonym: "benign mediastinal tumor" EXACT [NCIT:C3604]
synonym: "benign neoplasm of the mediastinum" EXACT [NCIT:C3604]
synonym: "benign tumor of mediastinum" EXACT [NCIT:C3604]
synonym: "benign tumor of the mediastinum" EXACT [NCIT:C3604]
synonym: "mediastinum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D15.2 {source="MONDO:equivalentTo"}
xref: ICD9:212.5 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3604 {source="MONDO:equivalentTo"}
xref: SCTID:92214000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153956 {source="MONDO:equivalentTo", source="NCIT:C3604"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C3604", source="linkedlifedata"} ! thoracic benign neoplasm
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C3604", source="linkedlifedata"} ! neoplasm of mediastinum
property_value: exactMatch http://identifiers.org/snomedct/92214000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153956
property_value: exactMatch NCIT:C3604

[Term]
id: MONDO:0021522
name: benign neoplasm of lower jaw bone
def: "A benign neoplasm that involves the bone of lower jaw." [MONDO:patterns/location]
synonym: "bone of lower jaw benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10:D16.5 {source="MONDO:equivalentTo"}
xref: ICD9:213.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34417 {source="MONDO:equivalentTo"}
xref: SCTID:92208007 {source="MONDO:equivalentTo"}
xref: UMLS:C0004994 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34417"}
is_a: MONDO:0000631 ! bone benign neoplasm
is_a: MONDO:0021580 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of jaw
property_value: exactMatch http://identifiers.org/snomedct/92208007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004994
property_value: exactMatch NCIT:C34417

[Term]
id: MONDO:0021523
name: benign neoplasm of pharynx
def: "A benign neoplasm that involves the pharynx." [MONDO:patterns/location]
synonym: "benign neoplasm of the pharynx" EXACT [NCIT:C3597]
synonym: "benign pharyngeal neoplasm" EXACT [NCIT:C3597]
synonym: "benign pharyngeal tumor" EXACT [NCIT:C3597]
synonym: "benign pharynx neoplasm" EXACT [NCIT:C3597]
synonym: "benign pharynx tumor" EXACT [NCIT:C3597]
synonym: "benign tumor of pharynx" EXACT [NCIT:C3597]
synonym: "benign tumor of the pharynx" EXACT [NCIT:C3597]
synonym: "pharyngeal neoplasm benign" EXACT [NCIT:C3597]
synonym: "pharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3597 {source="MONDO:equivalentTo"}
xref: SCTID:92293007 {source="MONDO:equivalentTo"}
xref: UMLS:C0153940 {source="MONDO:equivalentTo", source="NCIT:C3597"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3597"} ! pharynx neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92293007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153940
property_value: exactMatch NCIT:C3597

[Term]
id: MONDO:0021524
name: benign neoplasm of buccal mucosa
def: "A benign neoplasm that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "benign buccal mucosa neoplasm" EXACT [NCIT:C4406]
synonym: "benign buccal mucosa tumor" EXACT [NCIT:C4406]
synonym: "benign neoplasm of the buccal mucosa" EXACT [NCIT:C4406]
synonym: "benign tumor of buccal mucosa" EXACT [NCIT:C4406]
synonym: "benign tumor of the buccal mucosa" EXACT [NCIT:C4406]
synonym: "buccal mucosa benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4406 {source="MONDO:equivalentTo"}
xref: SCTID:92039003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345566 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4406"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0021241 {source="MONDO:Redundant", source="NCIT:C4406", source="linkedlifedata"} ! buccal mucosa neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92039003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345566
property_value: exactMatch NCIT:C4406

[Term]
id: MONDO:0021525
name: benign neoplasm of corpus uteri
def: "A benign neoplasm that involves the body of uterus." [MONDO:patterns/location]
synonym: "benign corpus uteri neoplasm" EXACT [NCIT:C3608]
synonym: "benign corpus uteri tumor" EXACT [NCIT:C3608]
synonym: "benign neoplasm of body of uterus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the body of uterus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the corpus uteri" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the uterine body" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the uterine corpus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of uterine body" EXACT [NCIT:C3608]
synonym: "benign neoplasm of uterine corpus" EXACT [NCIT:C3608]
synonym: "benign tumor of body of uterus" EXACT [NCIT:C3608]
synonym: "benign tumor of corpus uteri" EXACT [NCIT:C3608]
synonym: "benign tumor of the body of uterus" EXACT [NCIT:C3608]
synonym: "benign tumor of the corpus uteri" EXACT [NCIT:C3608]
synonym: "benign tumor of the uterine body" EXACT [NCIT:C3608]
synonym: "benign tumor of the uterine corpus" EXACT [NCIT:C3608]
synonym: "benign tumor of uterine body" EXACT [NCIT:C3608]
synonym: "benign tumor of uterine corpus" EXACT [NCIT:C3608]
synonym: "benign uterine body neoplasm" EXACT [NCIT:C3608]
synonym: "benign uterine body tumor" EXACT [NCIT:C3608]
synonym: "benign uterine corpus neoplasm" EXACT [NCIT:C3608]
synonym: "benign uterine corpus tumor" EXACT [NCIT:C3608]
synonym: "body of uterus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:219.1 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3608 {source="MONDO:equivalentTo"}
xref: SCTID:92021007 {source="MONDO:equivalentTo"}
xref: UMLS:C0153998 {source="NCIT:C3608", source="MONDO:equivalentTo"}
is_a: MONDO:0000632 {source="MONDO:Redundant", source="MONDOLEX:0021525", source="NCIT:C3608", source="linkedlifedata"} ! uterine benign neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="MONDOLEX:0021525", source="NCIT:C3608", source="linkedlifedata"} ! corpus uteri neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92021007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153998
property_value: exactMatch NCIT:C3608

[Term]
id: MONDO:0021527
name: benign neoplasm of meninges
def: "A benign neoplasm that involves the meningeal cluster." [MONDO:patterns/location]
synonym: "benign meningeal neoplasm" EXACT [NCIT:C4957]
synonym: "benign meningeal neoplasms" EXACT [NCIT:C4957]
synonym: "benign meningeal tumor" EXACT [NCIT:C4957]
synonym: "benign meningeal tumors" EXACT [NCIT:C4957]
synonym: "benign meninges neoplasm" EXACT [NCIT:C4957]
synonym: "benign meninges tumor" EXACT [NCIT:C4957]
synonym: "benign neoplasm of the meninges" EXACT [NCIT:C4957]
synonym: "benign neoplasms of meninges" EXACT [NCIT:C4957]
synonym: "benign neoplasms of the meninges" EXACT [NCIT:C4957]
synonym: "benign tumor of meninges" EXACT [NCIT:C4957]
synonym: "benign tumor of the meninges" EXACT [NCIT:C4957]
synonym: "meningeal cluster benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "meningeal tumors, benign" EXACT [NCIT:C4957]
xref: ICD10:D32 {source="MONDO:equivalentTo"}
xref: NCIT:C4957 {source="MONDO:equivalentTo"}
xref: SCTID:109913001 {source="MONDO:equivalentTo"}
xref: UMLS:C0348426 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C4957"}
is_a: MONDO:0000628 ! central nervous system organ benign neoplasm
is_a: MONDO:0016743 {source="MONDO:Redundant", source="MONDOLEX:0021527", source="NCIT:C4957", source="linkedlifedata"} ! tumor of meninges
property_value: exactMatch http://identifiers.org/snomedct/109913001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348426
property_value: exactMatch NCIT:C4957

[Term]
id: MONDO:0021528
name: benign neoplasm of male breast
def: "A non-metastasizing neoplasm that arises from the breast parenchyma in males." [NCIT:C4620]
synonym: "benign Male breast neoplasm" EXACT [NCIT:C4620]
synonym: "benign Male breast tumor" EXACT [NCIT:C4620]
synonym: "benign neoplasm of the Male breast" EXACT [NCIT:C4620]
synonym: "benign tumor of Male breast" EXACT [NCIT:C4620]
synonym: "benign tumor of the Male breast" EXACT [NCIT:C4620]
synonym: "male breast benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4620 {source="MONDO:equivalentTo"}
xref: SCTID:92206006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347482 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4620"}
is_a: MONDO:0000620 {source="MONDO:Redundant", source="MONDOLEX:0021528", source="NCIT:C4620", source="linkedlifedata"} ! breast benign neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92206006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347482
property_value: exactMatch NCIT:C4620

[Term]
id: MONDO:0021529
name: benign neoplasm of chest wall
def: "A benign neoplasm that involves the chest wall." [MONDO:patterns/location]
synonym: "benign chest wall neoplasm" EXACT [NCIT:C8529]
synonym: "benign chest wall tumor" EXACT [NCIT:C8529]
synonym: "benign neoplasm of the chest wall" EXACT [NCIT:C8529]
synonym: "benign tumor of chest wall" EXACT [NCIT:C8529]
synonym: "benign tumor of the chest wall" EXACT [NCIT:C8529]
synonym: "chest wall benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:229.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8529 {source="MONDO:equivalentTo"}
xref: SCTID:92058007 {source="MONDO:equivalentTo"}
xref: UMLS:C0684831 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8529"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8529", source="linkedlifedata"} ! thoracic benign neoplasm
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C8529", source="linkedlifedata"} ! neoplasm of chest wall
property_value: exactMatch http://identifiers.org/snomedct/92058007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684831
property_value: exactMatch NCIT:C8529

[Term]
id: MONDO:0021530
name: benign neoplasm of subglottis
def: "A benign neoplasm that involves the subglottis." [MONDO:patterns/location]
synonym: "benign neoplasm of the subglottis" EXACT [NCIT:C4427]
synonym: "benign subglottic neoplasm" EXACT [NCIT:C4427]
synonym: "benign subglottic tumor" EXACT [NCIT:C4427]
synonym: "benign subglottis neoplasm" EXACT [NCIT:C4427]
synonym: "benign subglottis tumor" EXACT [NCIT:C4427]
synonym: "benign tumor of subglottis" EXACT [NCIT:C4427]
synonym: "benign tumor of the subglottis" EXACT [NCIT:C4427]
synonym: "subglottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4427 {source="MONDO:equivalentTo"}
xref: SCTID:92412003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345749 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4427"}
is_a: MONDO:0000933 {source="MONDO:Redundant", source="NCIT:C4427", source="linkedlifedata"} ! subglottis neoplasm
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4427", source="linkedlifedata"} ! benign laryngeal neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92412003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345749
property_value: exactMatch NCIT:C4427

[Term]
id: MONDO:0021531
name: fibroma of lung
def: "A fibroma that involves the lung." [MONDO:patterns/location]
synonym: "fibroma of the lung" EXACT [NCIT:C5658]
synonym: "lung fibroma" EXACT [MONDO:patterns/location, NCIT:C5658]
synonym: "pulmonary fibroma" EXACT [NCIT:C5658]
xref: NCIT:C5658 {source="MONDO:equivalentTo"}
xref: SCTID:707387004 {source="MONDO:equivalentTo"}
xref: UMLS:C1334444 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5658"}
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C5658", source="linkedlifedata"} ! fibroma
is_a: MONDO:0021117 ! lung neoplasm
property_value: exactMatch http://identifiers.org/snomedct/707387004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334444
property_value: exactMatch NCIT:C5658

[Term]
id: MONDO:0021532
name: fibroma of prostate
def: "A fibroma that involves the prostate gland." [MONDO:patterns/location]
synonym: "fibroma of the prostate" EXACT [NCIT:C3972]
synonym: "prostate fibroma" EXACT [NCIT:C3972]
synonym: "prostate gland fibroma" EXACT [MONDO:patterns/location]
xref: ICD9:600.20 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3972 {source="MONDO:equivalentTo"}
xref: SCTID:47014000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268885 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3972"}
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C3972", source="linkedlifedata"} ! fibroma
is_a: MONDO:0021510 {source="NCIT:C3972", source="linkedlifedata"} ! benign neoplasm of prostate
property_value: exactMatch http://identifiers.org/snomedct/47014000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268885
property_value: exactMatch NCIT:C3972

[Term]
id: MONDO:0021533
name: intestinal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4637]
synonym: "carcinoid tumor of intestine" EXACT [NCIT:C4637]
synonym: "carcinoid tumor of the intestine" EXACT [NCIT:C4637]
synonym: "grade 1 neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "intestinal carcinoid tumor" EXACT [NCIT:C4637]
synonym: "intestinal NET G1" EXACT [NCIT:C4637]
synonym: "intestinal neuroendocrine tumor G1" EXACT [NCIT:C4637]
synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4637]
synonym: "intestine carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "intestine neuroendocrine neoplasm G1" EXACT []
synonym: "intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: NCIT:C4637 {source="MONDO:equivalentTo"}
xref: SCTID:276816003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000386 ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0002883 {source="MONDO:Redundant", source="NCIT:C4637/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0005369 {source="MONDOLEX:0021533", source="NCIT:C4637/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoid tumor (disease)
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0349535
property_value: exactMatch http://identifiers.org/snomedct/276816003
property_value: exactMatch NCIT:C4637

[Term]
id: MONDO:0021534
name: rectal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5547]
synonym: "carcinoid of rectum" EXACT [NCIT:C5547]
synonym: "carcinoid of the rectum" EXACT [NCIT:C5547]
synonym: "carcinoid tumor of rectum" EXACT [NCIT:C5547]
synonym: "carcinoid tumor of the rectum" EXACT [NCIT:C5547]
synonym: "grade 1 neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectal carcinoid" EXACT [NCIT:C5547]
synonym: "rectal carcinoid tumor" EXACT [NCIT:C5547]
synonym: "rectal NET G1" EXACT [NCIT:C5547]
synonym: "rectal neuroendocrine tumor G1" EXACT [NCIT:C5547]
synonym: "rectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectum carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "rectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectum neuroendocrine neoplasm G1" EXACT []
synonym: "rectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: NCIT:C5547 {source="MONDO:equivalentTo"}
xref: SCTID:713306000 {source="MONDO:equivalentTo"}
xref: UMLS:C1335678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5547"}
is_a: MONDO:0006162 {source="MONDO:Redundant", source="NCIT:C5547"} ! colorectal neuroendocrine tumor G1
is_a: MONDO:0015068 {source="MONDO:Redundant", source="MONDOLEX:0021534", source="NCIT:C5547"} ! neuroendocrine tumor of rectum, well differentiated, low or intermediate grade
property_value: exactMatch http://identifiers.org/snomedct/713306000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335678
property_value: exactMatch NCIT:C5547

[Term]
id: MONDO:0021535
name: pancreatic neuroendocrine tumor G1
def: "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." [NCIT:C95584]
synonym: "grade 1 neuroendocrine neoplasm of pancreas" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas neuroendocrine neoplasm G1" EXACT []
synonym: "pancreas neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreatic NET G1" EXACT [NCIT:C95584]
synonym: "pancreatic neuroendocrine tumor G1" EXACT [NCIT:C95584]
xref: NCIT:C95584 {source="MONDO:equivalentTo"}
xref: SCTID:254613007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005369 {source="MONDOLEX:0021535", source="linkedlifedata"} ! carcinoid tumor (disease)
is_a: MONDO:0019954 {source="MONDOLEX:0021535", source="NCIT:C95584"} ! pancreatic neuroendocrine tumor
relationship: has_modifier MONDO:0024491 ! tumor grade 1, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345933
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2987241
property_value: exactMatch http://identifiers.org/snomedct/254613007
property_value: exactMatch NCIT:C95584

[Term]
id: MONDO:0021537
name: undifferentiated carcinoma of nasopharynx
def: "A undifferentiated carcinoma that involves the nasopharynx." [MONDO:patterns/location]
synonym: "lymphoepithelioma of nasopharynx" EXACT [NCIT:C8023]
synonym: "lymphoepithelioma of the nasopharynx" EXACT [NCIT:C8023]
synonym: "nasopharyngeal lymphoepithelioma" EXACT [NCIT:C8023]
synonym: "nasopharyngeal nonkeratinizing undifferentiated carcinoma" EXACT [NCIT:C8023]
synonym: "nasopharyngeal undifferentiated carcinoma" EXACT [NCIT:C8023]
synonym: "nasopharynx undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of the nasopharynx" EXACT [NCIT:C8023]
synonym: "undifferentiated nasopharyngeal throat cancer" EXACT [NCIT:C8023]
xref: NCIT:C8023 {source="MONDO:equivalentTo"}
xref: SCTID:422541001 {source="MONDO:equivalentTo"}
xref: UMLS:C0279748 {source="NCIT:C8023", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005617 ! undifferentiated carcinoma
is_a: MONDO:0015459 {source="MONDO:Redundant", source="MONDOLEX:0021537", source="NCIT:C8023/inferred"} ! nasopharyngeal carcinoma
property_value: exactMatch http://identifiers.org/snomedct/422541001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279748
property_value: exactMatch NCIT:C8023

[Term]
id: MONDO:0021538
name: verrucous carcinoma of oral cavity
def: "A verrucous carcinoma that involves the oral cavity." [MONDO:patterns/location]
synonym: "mouth verrucous carcinoma" EXACT [NCIT:C8174]
synonym: "oral cavity verrucous cancer" EXACT [NCIT:C8174]
synonym: "oral cavity verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8174]
synonym: "verrucous carcinoma of mouth" EXACT [NCIT:C8174]
synonym: "verrucous carcinoma of the mouth" EXACT [NCIT:C8174]
synonym: "verrucous carcinoma of the oral cavity" EXACT [NCIT:C8174]
xref: NCIT:C8174 {source="MONDO:equivalentTo"}
xref: SCTID:403889000 {source="MONDO:equivalentTo"}
xref: UMLS:C0280306 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8174"}
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C8174", source="linkedlifedata"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C8174", source="linkedlifedata"} ! verrucous carcinoma
property_value: exactMatch http://identifiers.org/snomedct/403889000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280306
property_value: exactMatch NCIT:C8174

[Term]
id: MONDO:0021539
name: hamartoma of skin appendage
def: "A hamartoma (disease) that involves the cutaneous appendage." [MONDO:patterns/location]
synonym: "cutaneous appendage hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "skin appendage hamartoma" EXACT [NCIT:C5562]
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C5562 {source="MONDO:equivalentTo"}
xref: SCTID:399906000 {source="MONDO:equivalentTo"}
xref: UMLS:C1302712 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5562", source="MONDO:equivalentTo"}
is_a: MONDO:0002297 ! epidermal appendage tumor
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C5562", source="linkedlifedata", source="linkedlifedata/inferred"} ! hamartoma (disease)
property_value: exactMatch http://identifiers.org/snomedct/399906000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302712
property_value: exactMatch NCIT:C5562

[Term]
id: MONDO:0021540
name: hamartoma of lung
def: "A hamartoma (disease) that involves the lung." [MONDO:patterns/location]
synonym: "hamartoma of the lung" EXACT [NCIT:C3497]
synonym: "lung chondroid hamartoma" EXACT [NCIT:C3497]
synonym: "lung hamartoma" EXACT [NCIT:C3497]
synonym: "lung hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pulmonary hamartoma" EXACT [NCIT:C3497]
xref: ICD9:235.7 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3497 {source="MONDO:equivalentTo"}
xref: SCTID:254644003 {source="MONDO:equivalentTo"}
xref: UMLS:C0149927 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3497"}
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C3497/inferred", source="linkedlifedata"} ! hamartoma (disease)
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C3497/inferred"} ! lung neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254644003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149927
property_value: exactMatch NCIT:C3497

[Term]
id: MONDO:0021541
name: hemangioma of retina
def: "A hemangioma that involves the retina." [MONDO:patterns/location]
synonym: "angioma of retina" EXACT [NCIT:C3634]
synonym: "angioma of the retina" EXACT [NCIT:C3634]
synonym: "hemangioma of the retina" EXACT [NCIT:C3634]
synonym: "retina angioma" EXACT [NCIT:C3634]
synonym: "retina hemangioma" EXACT [MONDO:patterns/location, NCIT:C3634]
synonym: "retinal angioma" EXACT [NCIT:C3634]
synonym: "retinal hemangioma" EXACT [NCIT:C3634]
xref: ICD9:228.03 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C3634 {source="MONDO:equivalentTo"}
xref: SCTID:93470007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154051 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3634"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C3634", source="linkedlifedata"} ! hemangioma
is_a: MONDO:0021453 {source="MONDO:Redundant", source="NCIT:C3634"} ! benign neoplasm of retina
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/93470007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154051
property_value: exactMatch NCIT:C3634

[Term]
id: MONDO:0021542
name: hemangioma of choroid
def: "A hemangioma that involves the optic choroid." [MONDO:patterns/location]
synonym: "angioma of choroid" EXACT [NCIT:C4562]
synonym: "angioma of the choroid" EXACT [NCIT:C4562]
synonym: "benign angioma of choroid" EXACT [NCIT:C4562]
synonym: "benign angioma of the choroid" EXACT [NCIT:C4562]
synonym: "benign choroid angioma" EXACT [NCIT:C4562]
synonym: "benign choroid hemangioma" EXACT [NCIT:C4562]
synonym: "benign hemangioma of choroid" EXACT [NCIT:C4562]
synonym: "benign hemangioma of the choroid" EXACT [NCIT:C4562]
synonym: "choroid angioma" EXACT [NCIT:C4562]
synonym: "choroid hemangioma" EXACT [NCIT:C4562]
synonym: "hemangioma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the choroid" EXACT [NCIT:C4562]
synonym: "hemangioma, choroid, benign" EXACT [NCIT:C4562]
synonym: "optic choroid hemangioma" EXACT [MONDO:patterns/location]
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4562 {source="MONDO:equivalentTo"}
xref: SCTID:255022003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346390 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4562", source="MONDO:equivalentTo"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C4562", source="linkedlifedata"} ! hemangioma
is_a: MONDO:0021487 {source="MONDO:Redundant", source="NCIT:C4562"} ! benign neoplasm of choroid
property_value: exactMatch http://identifiers.org/snomedct/255022003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346390
property_value: exactMatch NCIT:C4562

[Term]
id: MONDO:0021543
name: hemangioma of gingiva
def: "A hemangioma that involves the gingiva." [MONDO:patterns/location]
synonym: "angioma of gingiva" EXACT [NCIT:C4831]
synonym: "angioma of gum" EXACT [NCIT:C4831]
synonym: "angioma of the gingiva" EXACT [NCIT:C4831]
synonym: "angioma of the gum" EXACT [NCIT:C4831]
synonym: "gingiva hemangioma" EXACT [MONDO:patterns/location]
synonym: "gingival angioma" EXACT [NCIT:C4831]
synonym: "gingival hemangioma" EXACT [NCIT:C4831]
synonym: "gum angioma" EXACT [NCIT:C4831]
synonym: "gum hemangioma" EXACT [NCIT:C4831]
synonym: "hemangioma of gum" EXACT [NCIT:C4831]
synonym: "hemangioma of the gingiva" EXACT [NCIT:C4831]
synonym: "hemangioma of the gum" EXACT [NCIT:C4831]
xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4831 {source="MONDO:equivalentTo"}
xref: SCTID:304990002 {source="MONDO:equivalentTo"}
xref: UMLS:C0582885 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4831"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C4831", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma
is_a: MONDO:0021491 {source="MONDO:Redundant", source="NCIT:C4831"} ! benign neoplasm of gum
property_value: exactMatch http://identifiers.org/snomedct/304990002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0582885
property_value: exactMatch NCIT:C4831

[Term]
id: MONDO:0021545
name: myomatous neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." [NCIT:C4063]
synonym: "muscle neoplasm" EXACT [NCIT:C4063]
synonym: "muscle tissue neoplasm" RELATED [MESH:D009379]
synonym: "muscle tissue neoplasms" RELATED [MESH:D009379]
synonym: "muscle tumor" EXACT [NCIT:C4063]
synonym: "myoblastoma" RELATED [MESH:D009379]
synonym: "myoblastomas" RELATED [MESH:D009379]
synonym: "myofibroblastoma" RELATED [MESH:D009379]
synonym: "myofibroblastomas" RELATED [MESH:D009379]
synonym: "myomatous neoplasm" EXACT [NCIT:C4063]
synonym: "myomatous tumor" EXACT [NCIT:C4063]
synonym: "neoplasm of muscle" EXACT [NCIT:C4063]
synonym: "neoplasm of the muscle" EXACT [NCIT:C4063]
synonym: "neoplasm, muscle tissue" RELATED [MESH:D009379]
synonym: "tumor of muscle" EXACT [NCIT:C4063]
synonym: "tumor of the muscle" EXACT [NCIT:C4063]
xref: MESH:D009379 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: MESH:D019042 {source="MONDO:equivalentTo"}
xref: NCIT:C4063 {source="MONDO:equivalentTo"}
is_a: MONDO:0002616 {source="NCIT:C4063"} ! mesenchymal cell neoplasm
is_a: MONDO:0003939 ! muscle tissue disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282606
property_value: exactMatch http://identifiers.org/mesh/D009379
property_value: exactMatch http://identifiers.org/mesh/D019042
property_value: exactMatch NCIT:C4063

[Term]
id: MONDO:0021546
name: ependymal tumor of spinal cord
def: "An ependymal tumor that arises from the spinal cord." [NCIT:C131526]
synonym: "ependymal tumor of spinal cord" EXACT [NCIT:C131526]
synonym: "spinal cord ependymal tumor" EXACT [MONDO:patterns/location]
xref: NCIT:C131526 {source="MONDO:equivalentTo"}
xref: UMLS:C4318747 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002542 {source="NCIT:C131526"} ! spinal cord glioma
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C131526"} ! ependymal tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4318747
property_value: exactMatch NCIT:C131526

[Term]
id: MONDO:0021547
name: amelogenesis imperfecta type 3B
synonym: "AI3B" RELATED [MONDO:Lexical, OMIM:617607]
synonym: "amelogenesis imperfecta, type 3B" EXACT [OMIM:617607]
synonym: "amelogenesis imperfecta, type IIIB" RELATED [MONDO:Lexical, OMIM:617607]
synonym: "amelogenesis imperfecta, type IIIB; AI3B" EXACT [OMIM:617607]
xref: DOID:0080243 {source="MONDO:equivalentTo"}
xref: OMIM:617607 {source="DOID:0080243", source="MONDO:equivalentTo"}
xref: UMLS:CN373594 {source="MONDO:equivalentTo"}
is_a: MONDO:0019507 {source="DOID:0080243", source="MONDO:Redundant", source="OMIM:617607", source="indirect"} ! amelogenesis imperfecta
property_value: exactMatch DOID:0080243
property_value: exactMatch http://identifiers.org/omim/617607
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN373594

[Term]
id: MONDO:0021548
name: total early-onset cataract
subset: ordo_clinical_subtype {source="Orphanet:98994"}
synonym: "cataract, total congenital" RELATED [GARD:0001159]
synonym: "cataract, total congenital with posterior sutural opacities in heterozygotes" RELATED [GARD:0001159]
synonym: "CCT" RELATED [GARD:0001159]
xref: GARD:0001159 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: ICD10:Q12.0 {source="Orphanet:98994", source="ORDO:98994/attributed", source="ORDO:98994/ntbt"}
xref: Orphanet:98994 {source="MONDO:equivalentTo"}
is_a: MONDO:0011060 {source="Orphanet:98994"} ! early-onset non-syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C535341
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266539
property_value: exactMatch Orphanet:98994

[Term]
id: MONDO:0021553
name: transverse myelitis
subset: gard_rare
synonym: "Myelitis, Transverse" RELATED [MSH:D009188]
synonym: "Transverse Myelitis" RELATED [MSH:D009188]
synonym: "Transverse myelitis" RELATED [UMLS:C0026976]
synonym: "transverse myelitis" RELATED []
synonym: "Transverse Myelopathy Syndrome" RELATED [MSH:D009188]
synonym: "Transverse myelopathy syndrome" RELATED [UMLS:C0026976]
synonym: "transverse myelopathy syndrome" EXACT []
synonym: "Transverse Myelopathy Syndromes" RELATED [MSH:D009188]
xref: GARD:0007796 {source="MONDO:equivalentTo"}
xref: ICD9:323.9 {source="linkedlife"}
xref: SCTID:16631009 {source="MONDO:equivalentTo", source="UMLS:C0026976"}
xref: UMLS:C0026976 {source="MONDO:equivalentTo", source="GARD:0007796"}
is_a: MONDO:0002565 ! myelitis
relationship: has_modifier MONDO:0021136 {source="GARD:0007796"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/16631009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026976

[Term]
id: MONDO:0021559
name: non-autoimmune hemolytic anemia
def: "Hemolytic anemia that is not mediated by immune mechanisms." [NCIT:C34853]
synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [NCIT:C34853]
synonym: "Non-autoimmune hemolytic anemia" RELATED [UMLS:C0028283]
synonym: "non-autoimmune hemolytic anemia" EXACT [NCIT:C34853]
xref: ICD9:283.10 {source="linkedlife"}
xref: ICD9:283.19 {source="linkedlife"}
xref: NCIT:C34853 {source="MONDO:equivalentTo", source="UMLS:C0028283"}
xref: SCTID:191216004 {source="MONDO:equivalentTo", source="UMLS:C0028283"}
xref: UMLS:C0028283 {source="MONDO:equivalentTo"}
is_a: MONDO:0003664 {source="NCIT:C34853"} ! hemolytic anemia
property_value: exactMatch http://identifiers.org/snomedct/191216004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028283
property_value: exactMatch NCIT:C34853

[Term]
id: MONDO:0021562
name: omphalitis
def: "Inflammation of the umbilical cord stump in newborns." [NCIT:C116008]
synonym: "Omphalitis" RELATED [GTR:AN0533760, NCIT:C116008, SNOMEDCT_US:239095007]
synonym: "omphalitis" EXACT [NCIT:C116008]
xref: GTR:AN0533760 {source="UMLS:C0028992"}
xref: NCIT:C116008 {source="UMLS:C0028992", source="MONDO:equivalentTo"}
xref: SCTID:239095007 {source="UMLS:C0028992", source="MONDO:equivalentTo"}
xref: UMLS:C0028992 {source="MONDO:equivalentTo"}
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/239095007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028992
property_value: exactMatch NCIT:C116008

[Term]
id: MONDO:0021568
name: renal tubule disease
def: "A disease that involves the renal tubule." [MONDO:patterns/location]
synonym: "disease of renal tubule" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal tubule" EXACT []
synonym: "disorder of renal tubule" EXACT [MONDO:patterns/location_top]
synonym: "disorder of renal tubule" RELATED [MONDO:patterns/location_top]
synonym: "renal tubular disease" EXACT [MONDO:DesignPattern]
synonym: "renal tubular disorder" EXACT [MONDO:DesignPattern]
synonym: "renal tubule disease" EXACT [MONDO:patterns/location]
synonym: "renal tubule disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:95568003 {source="MONDO:equivalentTo"}
xref: UMLS:C0151747 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease
property_value: exactMatch http://identifiers.org/snomedct/95568003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151747

[Term]
id: MONDO:0021569
name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
def: "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." [NCIT:C126745]
subset: gard_rare
subset: ordo_disease {source="Orphanet:264"}
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [OMIM:159001]
synonym: "EDMD2" RELATED [MONDO:Lexical, OMIM:181350]
synonym: "EMD2" RELATED [OMIM:181350]
synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:181350]
synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant; EDMD2" EXACT [OMIM:181350]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" RELATED [OMIM:181350]
synonym: "Hauptmann-Thannhauser muscular dystrophy" RELATED [OMIM:181350]
synonym: "LGMD1B" EXACT [DOID:0110301, GARD:0010230, MONDO:Lexical, OMIM:159001, Orphanet:264]
synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [DOID:0110301, Orphanet:264]
synonym: "limb-girdle muscular dystrophy type 1B" RELATED [GARD:0010230]
synonym: "LMNA autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" RELATED [OMIM:181350]
synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [DOID:0110301]
synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical, OMIM:159001]
synonym: "muscular dystrophy, limb-girdle, type 1B; LGMD1B" RELATED [OMIM:159001]
synonym: "muscular dystrophy, proximal, type 1B" RELATED [GARD:0010230, OMIM:159001]
synonym: "proximal muscular dystrophy type 1B" EXACT [DOID:0110301]
synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350]
xref: DOID:0070247 {source="MONDO:equivalentTo"}
xref: DOID:0110301 {source="MONDO:equivalentTo"}
xref: GARD:0010230 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:264/inclusion", source="ORDO:264/ntbt", source="Orphanet:264", source="DOID:0110301"}
xref: MESH:C535898 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: NCIT:C126745 {source="MONDO:equivalentTo"}
xref: OMIM:159001 {source="GARD:0010230", source="MONDO:equivalentTo", source="ORDO:264/e", source="Orphanet:264", source="DOID:0110301"}
xref: OMIM:181350 {source="MONDO:equivalentTo"}
xref: Orphanet:264 {source="GARD:0010230", source="OMIM:159001", source="MONDO:equivalentTo", source="DOID:0110301"}
xref: SCTID:718178006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.66"}
xref: UMLS:C0410190 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126745", source="OMIM:181350"}
xref: UMLS:C1834653 {source="GARD:0010230", source="OMIM:159001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:264"}
is_a: MONDO:0015151 {source="DOID:0110301", source="MONDO:Redundant", source="MONDOLEX:0008033", source="OMIM:159001", source="Orphanet:264"} ! autosomal dominant limb-girdle muscular dystrophy
is_a: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750034
property_value: exactMatch DOID:0070247
property_value: exactMatch DOID:0110301
property_value: exactMatch http://identifiers.org/mesh/C535898
property_value: exactMatch http://identifiers.org/omim/159001
property_value: exactMatch http://identifiers.org/omim/181350
property_value: exactMatch http://identifiers.org/snomedct/718178006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834653
property_value: exactMatch NCIT:C126745
property_value: exactMatch Orphanet:264
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b xsd:string {source="GARD:0010230"}

[Term]
id: MONDO:0021570
name: Hauptmann-Thannhauser muscular dystrophy
comment: May be obsoleted: see https://github.com/monarch-initiative/mondo-build/issues/55
synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" RELATED [PMID:12376891]
xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:240072005 {source="MONDO:equivalentTo"}
is_a: MONDO:0020121 {source="PMID:12376891", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy
relationship: disease_shares_features_of MONDO:0010680 {source="PMID:12376891"} ! X-linked Emery-Dreifuss muscular dystrophy
property_value: exactMatch http://identifiers.org/snomedct/240072005

[Term]
id: MONDO:0021571
name: multiple sclerosis, susceptibility to 1
subset: predisposition
synonym: "disseminated sclerosis" RELATED [OMIM:126200]
synonym: "MS" RELATED [MONDO:Lexical, OMIM:126200]
synonym: "MS1" RELATED []
synonym: "multiple sclerosis, susceptibility to" RELATED [MONDO:Lexical, OMIM:126200]
synonym: "multiple sclerosis, susceptibility to, 1" EXACT [OMIM:126200]
synonym: "multiple sclerosis, susceptibility to; MS" RELATED [OMIM:126200]
synonym: "susceptibility to multiple sclerosis" RELATED [OMIM:126200]
xref: OMIM:126200 {source="MONDO:equivalentTo"}
xref: UMLS:CN031763 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007462 {source="MONDOLEX:0021571", source="OMIM:126200"} ! multiple sclerosis, susceptibility to
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868685
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888106
property_value: exactMatch http://identifiers.org/omim/126200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031763

[Term]
id: MONDO:0021573
name: oocyte maturation defect 2
def: "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "inherited oocyte maturation defect caused by mutation in TUBB8" EXACT [MONDO:design_pattern]
synonym: "oocyte maturation defect 2" EXACT [MONDO:Lexical, OMIM:616780]
synonym: "oocyte maturation defect 2; OOMD2" EXACT [OMIM:616780]
synonym: "OOMD2" RELATED [MONDO:Lexical, OMIM:616780]
synonym: "TUBB8 inherited oocyte maturation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616780 {source="MONDO:equivalentTo"}
xref: UMLS:C4225210 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:616780"}
is_a: MONDO:0014769 {source="MONDO:Redundant", source="OMIM:616780"} ! inherited oocyte maturation defect
property_value: exactMatch http://identifiers.org/omim/616780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225210

[Term]
id: MONDO:0021574
name: oocyte maturation defect 3
synonym: "oocyte maturation defect 3" EXACT [MONDO:Lexical, OMIM:617712]
synonym: "oocyte maturation defect 3; OOMD3" EXACT [OMIM:617712]
synonym: "OOMD3" RELATED [MONDO:Lexical, OMIM:617712]
xref: OMIM:617712 {source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:617712"} ! inherited oocyte maturation defect
property_value: exactMatch http://identifiers.org/omim/617712

[Term]
id: MONDO:0021575
name: oocyte maturation defect 4
synonym: "oocyte maturation defect 4" EXACT [MONDO:Lexical, OMIM:617743]
synonym: "oocyte maturation defect 4; OOMD4" EXACT [OMIM:617743]
synonym: "OOMD4" RELATED [MONDO:Lexical, OMIM:617743]
xref: OMIM:617743 {source="MONDO:equivalentTo"}
xref: UMLS:CN562785 {source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:617743"} ! inherited oocyte maturation defect
property_value: exactMatch http://identifiers.org/omim/617743
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN562785

[Term]
id: MONDO:0021576
name: fallopian tube endometrioid tumor
def: "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C40111]
synonym: "endometrium neoplasm of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube endometrioid neoplasm" EXACT [NCIT:C40111]
synonym: "fallopian tube endometrioid tumor" EXACT [NCIT:C40111]
synonym: "fallopian tube endometrium neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C40111 {source="MONDO:equivalentTo"}
xref: UMLS:C1517113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40111"}
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40111"} ! fallopian tube neoplasm
is_a: MONDO:0021251 ! endometrium neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1517113
property_value: exactMatch NCIT:C40111

[Term]
id: MONDO:0021577
name: malignant mediastinal neural neoplasm
synonym: "malignant neuroma of mediastinum" EXACT []
xref: SCTID:278044006 {source="MONDO:equivalentTo"}
xref: UMLS:C0349665 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003098 {source="MONDOLEX:0021577"} ! mediastinal neural neoplasm
is_a: MONDO:0005843 {source="MONDO:Entailed", source="linkedlifedata"} ! mediastinal cancer
is_a: MONDO:0021089 ! peripheral nervous system cancer
property_value: exactMatch http://identifiers.org/snomedct/278044006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349665

[Term]
id: MONDO:0021578
name: sternal neoplasm
def: "A benign or malignant neoplasm that affects the sternum." [NCIT:C6730]
synonym: "neoplasm of sternum" EXACT [MONDO:patterns/neoplasm, NCIT:C6730]
synonym: "neoplasm of sternum (disease)" EXACT []
synonym: "neoplasm of sternum (disorder)" EXACT []
synonym: "neoplasm of the sternum" EXACT [NCIT:C6730]
synonym: "sternal neoplasm" EXACT [NCIT:C6730]
synonym: "sternal tumor" EXACT [NCIT:C6730]
synonym: "sternum neoplasm" EXACT []
synonym: "sternum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sternum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of sternum" EXACT [MONDO:patterns/neoplasm, NCIT:C6730]
synonym: "tumor of the sternum" EXACT [NCIT:C6730]
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C6730 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:126559003 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C1290244 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6730"}
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C6730", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of thorax
property_value: exactMatch http://identifiers.org/snomedct/126559003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290244
property_value: exactMatch NCIT:C6730

[Term]
id: MONDO:0021579
name: neoplasm of femur
def: "A neoplasm (disease) that involves the femur." [MONDO:patterns/location]
synonym: "femur neoplasm" EXACT []
synonym: "femur neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "femur tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of femur" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of femur" EXACT [MONDO:patterns/neoplasm]
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:126583006 {source="DesignPattern", source="MONDO:equivalentTo"}
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/snomedct/126583006

[Term]
id: MONDO:0021580
name: neoplasm of jaw
def: "A neoplasm (disease) that involves the jaw skeleton." [MONDO:patterns/location]
synonym: "jaw skeleton neoplasm" EXACT []
synonym: "jaw skeleton neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jaw skeleton tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of jaw skeleton" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of jaw skeleton" EXACT [MONDO:patterns/neoplasm]
xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:126634001 {source="DesignPattern", source="MONDO:equivalentTo"}
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0021223 ! digestive system neoplasm
is_a: MONDO:0023369 ! disease of facial skeleton
is_a: MONDO:0024653 ! skull neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126634001

[Term]
id: MONDO:0021581
name: connective tissue neoplasm
def: "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." [MESH:D009372]
synonym: "connective tissue neoplasm" EXACT [MESH:D009372]
synonym: "connective tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "connective tissue neoplasms" RELATED [MESH:D009372]
synonym: "connective tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of connective tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of connective tissues" EXACT [DOID:201]
synonym: "neoplasm, connective tissue" RELATED [MESH:D009372]
synonym: "tumor of connective tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of connective tissue" EXACT [MONDO:DesignPattern]
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009372 {source="MONDO:equivalentTo"}
xref: SCTID:126598008 {source="MONDO:equivalentTo"}
xref: UMLS:C0027656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003900 {source="MESH:D009372", source="MONDO:Redundant", source="linkedlifedata"} ! connective tissue disease
is_a: MONDO:0005070 {source="MESH:D009372/inferred", source="MONDO:Redundant", source="MONDOLEX:0021581", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/mesh/D009372
property_value: exactMatch http://identifiers.org/snomedct/126598008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027656

[Term]
id: MONDO:0021582
name: lentigo
def: "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." [NCIT:C3159]
comment: Editor note: NCIT classifies as non-neoplastic, check this
synonym: "lentiginosis" EXACT [NCIT:C3159]
synonym: "lentigo" EXACT [NCIT:C3159]
xref: NCIT:C3159 {source="MONDO:equivalentTo"}
xref: SCTID:402624000 {source="MONDO:equivalentTo"}
is_a: MONDO:0021440 ! benign neoplasm of skin
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023321
property_value: exactMatch http://identifiers.org/snomedct/402624000
property_value: exactMatch NCIT:C3159

[Term]
id: MONDO:0021583
name: melanocytic skin neoplasm
def: "A melanocytic neoplasm that involves the zone of skin." [MONDO:patterns/location]
synonym: "cutaneous melanocytic neoplasm" EXACT [NCIT:C7161]
synonym: "melanocytic neoplasm of skin" EXACT [NCIT:C7161]
synonym: "melanocytic neoplasm of zone of skin" EXACT [MONDO:design_pattern]
synonym: "melanocytic skin neoplasm" EXACT [NCIT:C7161]
synonym: "zone of skin melanocytic neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C7161 {source="MONDO:equivalentTo"}
xref: UMLS:C0349501 {source="MONDO:equivalentTo", source="NCIT:C7161"}
is_a: MONDO:0002531 {source="MONDO:Redundant", source="MONDOLEX:0021583", source="NCIT:C7161"} ! skin neoplasm
is_a: MONDO:0021143 {source="MONDO:Redundant", source="MONDOLEX:0021583", source="NCIT:C7161"} ! melanocytic neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349501
property_value: exactMatch NCIT:C7161

[Term]
id: MONDO:0021588
name: eyelid sebaceous gland carcinoma
def: "A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases." [NCIT:C134831]
synonym: "carcinoma of sebaceous gland of eyelid" EXACT [MONDO:patterns/carcinoma]
synonym: "eyelid sebaceous gland carcinoma" EXACT [NCIT:C134831]
synonym: "eyelid SGC" EXACT [NCIT:C134831]
synonym: "sebaceous gland carcinoma of the eyelid" EXACT [NCIT:C134831]
synonym: "sebaceous gland of eyelid carcinoma" EXACT [MONDO:patterns/location]
xref: NCIT:C134831 {source="MONDO:equivalentTo"}
xref: UMLS:C4525405 {source="MONDO:equivalentTo"}
is_a: MONDO:0003876 {source="MONDO:Redundant", source="MONDOLEX:0021588", source="NCIT:C134831"} ! eyelid carcinoma
is_a: MONDO:0006327 {source="NCIT:C134831"} ! ocular sebaceous carcinoma
is_a: MONDO:0020176 ! palpebral sebaceous gland tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4525405
property_value: exactMatch NCIT:C134831

[Term]
id: MONDO:0021605
name: benign eyelid neoplasm
def: "A non-metastasizing neoplasm that arises from the upper or lower eyelid." [NCIT:C4354]
synonym: "benign eyelid neoplasm" EXACT [NCIT:C4354]
synonym: "benign eyelid tumor" EXACT [NCIT:C4354]
synonym: "benign neoplasm of eyelid" EXACT [NCIT:C4354]
synonym: "benign neoplasm of the eyelid" EXACT [NCIT:C4354]
synonym: "benign tumor of eyelid" EXACT [NCIT:C4354]
synonym: "benign tumor of the eyelid" EXACT [NCIT:C4354]
synonym: "eyelid benign neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C4354 {source="MONDO:equivalentTo"}
xref: SCTID:231824001 {source="MONDO:equivalentTo"}
xref: UMLS:C0339107 {source="MONDO:equivalentTo", source="NCIT:C4354"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C4354", source="linkedlifedata"} ! eyelid neoplasm
is_a: MONDO:0021440 ! benign neoplasm of skin
is_a: MONDO:0021454 {source="MONDO:Redundant", source="MONDOLEX:0021605", source="NCIT:C4354"} ! benign neoplasm of eye
property_value: exactMatch http://identifiers.org/snomedct/231824001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339107
property_value: exactMatch NCIT:C4354

[Term]
id: MONDO:0021607
name: eyelid seborrheic keratosis
def: "A seborrheic keratosis that involves the eyelid." [MONDO:patterns/location]
synonym: "basal cell papilloma of eyelid" EXACT [NCIT:C4356]
synonym: "basal cell papilloma of the eyelid" EXACT [NCIT:C4356]
synonym: "eyelid basal cell papilloma" EXACT [NCIT:C4356]
synonym: "eyelid seborrheic keratosis" EXACT [MONDO:patterns/location, NCIT:C4356]
synonym: "seborrheic keratosis of eyelid" EXACT [NCIT:C4356]
synonym: "seborrheic keratosis of the eyelid" EXACT [NCIT:C4356]
xref: NCIT:C4356 {source="MONDO:equivalentTo"}
xref: SCTID:231826004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339109 {source="MONDO:equivalentTo", source="NCIT:C4356"}
is_a: MONDO:0003382 ! eyelid disease
is_a: MONDO:0008420 {source="MONDO:Redundant", source="MONDOLEX:0021607", source="NCIT:C4356"} ! seborrheic keratosis
property_value: exactMatch http://identifiers.org/snomedct/231826004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339109
property_value: exactMatch NCIT:C4356

[Term]
id: MONDO:0021627
name: eyelid capillary hemangioma
def: "A capillary hemangioma arising from the eyelid." [NCIT:C4357]
synonym: "capillary angioma of eyelid" EXACT [NCIT:C4357]
synonym: "capillary angioma of lid" EXACT [NCIT:C4357]
synonym: "capillary angioma of the eyelid" EXACT [NCIT:C4357]
synonym: "capillary angioma of the lid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of eyelid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of lid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of the eyelid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of the lid" EXACT [NCIT:C4357]
synonym: "eyelid capillary angioma" EXACT [NCIT:C4357]
synonym: "eyelid capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C4357]
xref: NCIT:C4357 {source="MONDO:equivalentTo"}
xref: SCTID:231828003 {source="MONDO:equivalentTo"}
xref: UMLS:C0339110 {source="MONDO:equivalentTo", source="NCIT:C4357"}
is_a: MONDO:0002407 {source="MONDO:Redundant", source="MONDOLEX:0021627", source="NCIT:C4357"} ! capillary hemangioma
is_a: MONDO:0003110 ! skin hemangioma
is_a: MONDO:0021605 {source="MONDO:Redundant", source="NCIT:C4357"} ! benign eyelid neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/231828003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339110
property_value: exactMatch NCIT:C4357

[Term]
id: MONDO:0021628
name: obsolete lacrimal system disease
is_obsolete: true
replaced_by: MONDO:0001854

[Term]
id: MONDO:0021629
name: uterine ligament neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma." [NCIT:C40133]
synonym: "neoplasm of the uterine ligament" EXACT [NCIT:C40133]
synonym: "neoplasm of uterine ligament" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the uterine ligament" EXACT [NCIT:C40133]
synonym: "tumor of uterine ligament" EXACT [MONDO:patterns/neoplasm]
synonym: "uterine ligament neoplasm" EXACT [NCIT:C40133]
synonym: "uterine ligament neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine ligament tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C40133]
xref: NCIT:C40133 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: UMLS:C1519870 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40133"}
is_a: MONDO:0021230 ! uterine cervix neoplasm
is_a: MONDO:0045044 ! ligament disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519870
property_value: exactMatch NCIT:C40133

[Term]
id: MONDO:0021630
name: lipoma of face
def: "A lipoma that involves the face." [MONDO:patterns/location]
synonym: "face lipoma" EXACT [MONDO:patterns/location]
xref: ICD9:214.0 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:93159009 {source="DesignPattern", source="MONDO:equivalentTo"}
is_a: MONDO:0005106 ! lipoma
is_a: MONDO:0005586 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0044987 ! face disease
property_value: exactMatch http://identifiers.org/snomedct/93159009

[Term]
id: MONDO:0021631
name: brain astrocytoma
def: "A astrocytoma (excluding glioblastoma) that involves the brain." [MONDO:patterns/location]
synonym: "astrocytoma (excluding glioblastoma) of brain" EXACT [MONDO:design_pattern]
synonym: "brain astrocytoma" EXACT [NCIT:C60780]
synonym: "brain astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: NCIT:C60780 {source="MONDO:equivalentTo"}
xref: SCTID:254938000 {source="MONDO:equivalentTo"}
xref: UMLS:C3695127 {source="MONDO:equivalentTo", source="NCIT:C60780"}
is_a: MONDO:0019781 {source="MONDO:Redundant", source="MONDOLEX:0021631", source="NCIT:C60780", source="linkedlifedata"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021632 {source="NCIT:C60780"} ! primary brain neoplasm
property_value: exactMatch http://identifiers.org/snomedct/254938000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3695127
property_value: exactMatch NCIT:C60780

[Term]
id: MONDO:0021632
name: primary brain neoplasm
synonym: "primary brain neoplasm" EXACT [NCIT:C4952]
synonym: "primary brain tumor" EXACT [NCIT:C4952]
xref: NCIT:C4952 {source="ONCOTREE:PBT", source="MONDO:equivalentTo"}
xref: ONCOTREE:PBT {source="MONDO:equivalentTo"}
is_a: MONDO:0021211 {source="NCIT:C4952"} ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750974
property_value: exactMatch NCIT:C4952

[Term]
id: MONDO:0021633
name: cerebral astrocytoma
def: "An astrocytoma that arises from the cerebral hemispheres." [NCIT:C4951]
synonym: "astrocytoma (excluding glioblastoma) of cerebral hemisphere" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of cerebral hemispheres" EXACT [NCIT:C4951]
synonym: "astrocytoma of cerebrum" EXACT [NCIT:C4951]
synonym: "astrocytoma of the cerebral hemispheres" EXACT [NCIT:C4951]
synonym: "astrocytoma of the cerebrum" EXACT [NCIT:C4951]
synonym: "cerebral astrocytoma" EXACT [NCIT:C4951]
synonym: "cerebral hemisphere astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
synonym: "cerebral hemispheric astrocytoma" EXACT [NCIT:C4951]
xref: NCIT:C4951 {source="DesignPattern", source="MONDO:equivalentTo"}
xref: SCTID:99131000119108 {source="DesignPattern", source="MONDO:equivalentTo"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C4951", source="NCIT:C4951/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of cerebral hemisphere
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C4951", source="linkedlifedata"} ! brain astrocytoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750935
property_value: exactMatch http://identifiers.org/snomedct/99131000119108
property_value: exactMatch NCIT:C4951

[Term]
id: MONDO:0021634
name: epithelial skin neoplasm
def: "A epithelial neoplasm that involves the zone of skin." [MONDO:patterns/location]
synonym: "epithelial skin neoplasm" EXACT [NCIT:C7342]
synonym: "epithelial skin tumor" EXACT [NCIT:C7342]
synonym: "skin epithelium neoplasm" EXACT [NCIT:C7342]
synonym: "skin epithelium tumor" EXACT [NCIT:C7342]
synonym: "zone of skin epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: NCIT:C7342 {source="MONDO:equivalentTo"}
xref: UMLS:C0345976 {source="NCIT:C7342", source="MONDO:equivalentTo"}
is_a: MONDO:0002531 {source="MONDO:Redundant", source="MONDOLEX:0021634", source="NCIT:C7342"} ! skin neoplasm
is_a: MONDO:0005626 {source="MONDO:Redundant", source="MONDOLEX:0021634", source="NCIT:C7342"} ! epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345976
property_value: exactMatch NCIT:C7342

[Term]
id: MONDO:0021635
name: neurocristopathy
def: "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." [https://en.wikipedia.org/wiki/Neurocristopathy, MONDO:cjm]
synonym: "disorder of neural crest cell development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of neural crest cell development" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of neural crest development" EXACT [MONDO:cjm]
synonym: "neural crest cell development disease" EXACT []
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted

[Term]
id: MONDO:0021636
name: astrocytic tumor
def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C6958]
comment: This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23
subset: ordo_group_of_disorders {source="Orphanet:94"}
synonym: "astrocytic neoplasm" EXACT [NCIT:C6958]
synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94]
synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23]
synonym: "astrocytoma of brain" EXACT [DOID:3069]
synonym: "astrocytoma of cerebrum" EXACT [DOID:3069]
synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069]
synonym: "Astroglioma" EXACT [NCIT:C6958]
synonym: "astroglioma" EXACT [CSP2005:2012-6768, DOID:3069]
synonym: "cerebral astrocytoma" EXACT EXCLUDE [DOID:3069]
xref: DOID:3069 {source="MONDO:equivalentTo"}
xref: EFO:0000272 {source="MONDO:equivalentTo"}
xref: MedDRA:10003571 {source="Orphanet:94", source="ORDO:94/e"}
xref: NCIT:C6958 {source="DOID:3069", source="MONDO:equivalentTo"}
xref: Orphanet:94 {source="MONDO:equivalentTo"}
is_a: MONDO:0021042 {source="NCIT:C6958"} ! glioma
property_value: closeMatch http://identifiers.org/snomedct/189914005
property_value: closeMatch http://identifiers.org/snomedct/38713004
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750935
property_value: exactMatch DOID:3069
property_value: exactMatch http://identifiers.org/meddra/10003571
property_value: exactMatch NCIT:C6958
property_value: exactMatch Orphanet:94

[Term]
id: MONDO:0021637
name: low grade glioma
def: "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." [NCIT:C132067]
synonym: "low grade glioma" EXACT [NCIT:C132067]
synonym: "low-grade glioma" EXACT [NCIT:C132067]
xref: NCIT:C132067 {source="MONDO:equivalentTo"}
xref: UMLS:C1997217 {source="MONDO:equivalentTo", source="NCIT:C132067"}
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C132067"} ! glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
relationship: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1997217
property_value: exactMatch NCIT:C132067

[Term]
id: MONDO:0021638
name: low grade astrocytic tumor
def: "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." [NCIT:C116342]
synonym: "low grade astrocytic neoplasm" EXACT [NCIT:C116342]
synonym: "low grade astrocytic tumor" EXACT [NCIT:C116342]
synonym: "low-grade astrocytic neoplasm" EXACT [NCIT:C116342]
synonym: "low-grade astrocytic tumor" EXACT [NCIT:C116342]
xref: NCIT:C116342 {source="MONDO:equivalentTo"}
xref: UMLS:C3898569 {source="NCIT:C116342", source="MONDO:equivalentTo"}
is_a: MONDO:0021636 {source="MONDO:Redundant", source="MONDOLEX:0021638", source="NCIT:C116342"} ! astrocytic tumor
is_a: MONDO:0021637 {source="MONDO:Redundant", source="NCIT:C116342"} ! low grade glioma
intersection_of: MONDO:0021636 ! astrocytic tumor
intersection_of: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898569
property_value: exactMatch NCIT:C116342

[Term]
id: MONDO:0021639
name: grade II glioma
def: "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." [NCIT:C132505]
synonym: "grade II glioma" EXACT [NCIT:C132505]
synonym: "WHO grade II glioma" EXACT [NCIT:C132505]
xref: NCIT:C132505 {source="MONDO:equivalentTo"}
xref: UMLS:C4330050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021637 ! low grade glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_modifier MONDO:0024492 ! tumor grade 2, general grading system
relationship: has_modifier MONDO:0024492 ! tumor grade 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4330050
property_value: exactMatch NCIT:C132505

[Term]
id: MONDO:0021640
name: grade III glioma
def: "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." [NCIT:C127816]
synonym: "anaplastic glioma" EXACT [NCIT:C127816]
synonym: "WHO grade III glioma" EXACT [NCIT:C127816]
xref: NCIT:C127816 {source="MONDO:equivalentTo"}
xref: UMLS:C4287997 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015917 {source="MONDOLEX:0021640", source="NCIT:C127816"} ! malignant glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_modifier MONDO:0024493 ! tumor grade 3, general grading system
relationship: has_modifier MONDO:0024493 ! tumor grade 3, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4287997
property_value: exactMatch NCIT:C127816

[Term]
id: MONDO:0021641
name: Bunyaviridae infectious disease
def: "Virus diseases caused by the bunyaviridae." [MESH:D002044]
synonym: "Bunyaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bunyaviridae disease or disorder" EXACT []
synonym: "Bunyaviridae infection" RELATED [MESH:D002044]
synonym: "Bunyaviridae infectious disease" EXACT [MONDO:0005686]
synonym: "Bunyavirus infection" RELATED [MESH:D002044]
synonym: "Bunyavirus infections" RELATED [MESH:D002044]
synonym: "disease caused by Bunyaviridae" RELATED []
synonym: "disease caused by Bunyavirus" RELATED []
synonym: "disease due to Bunyaviridae" EXACT []
synonym: "disease due to Bunyavirus" RELATED []
synonym: "infections, Bunyaviridae" RELATED [MESH:D002044]
synonym: "infections, Bunyavirus" RELATED [MESH:D002044]
xref: EFO:0007188 {source="MONDO:equivalentTo"}
xref: MESH:D002044 {source="MONDO:equivalentTo", source="EFO:0007188"}
xref: SCTID:105632002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007188", source="MESH:D002044/inferred", source="MONDO:Redundant", source="MONDOLEX:0021641", source="linkedlifedata"} ! viral infectious disease
property_value: closeMatch DOID:1332
property_value: exactMatch http://identifiers.org/mesh/D002044
property_value: exactMatch http://identifiers.org/snomedct/105632002

[Term]
id: MONDO:0021642
name: vulval varices
def: "A varicose disease that involves the mammalian vulva." [MONDO:patterns/location]
synonym: "mammalian vulva varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of mammalian vulva" EXACT [MONDO:design_pattern]
xref: HP:0100677 {source="MONDO:otherHierarchy"}
xref: ICD10:I86.3 {source="MONDO:equivalentTo"}
xref: ICD9:456.6 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:48868008 {source="HP:0100677", source="MONDO:equivalentTo"}
xref: UMLS:C0155796 {source="HP:0100677", source="MONDO:equivalentTo"}
is_a: MONDO:0002263 ! female reproductive system disease
is_a: MONDO:0004869 {source="MONDO:cjm", source="linkedlifedata"} ! pelvic varices
property_value: exactMatch http://identifiers.org/snomedct/48868008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155796

[Term]
id: MONDO:0021643
name: mesenteric varices
def: "A varicose disease that involves the mesentery." [MONDO:patterns/location]
synonym: "mesentery varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of mesentery" EXACT [MONDO:design_pattern]
xref: HP:0002626 {source="MONDO:otherHierarchy"}
xref: SCTID:22949006 {source="MONDO:equivalentTo"}
is_a: MONDO:0008638 ! varicose disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857692
property_value: exactMatch http://identifiers.org/snomedct/22949006

[Term]
id: MONDO:0021644
name: esophageal varices without bleeding
synonym: "esophageal varices without bleeding" EXACT []
xref: ICD10:I85.00 {source="MONDO:equivalentTo"}
xref: ICD10:I85.9 {source="MONDO:equivalentTo"}
xref: ICD9:456.1 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:14223005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267092 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001221 {source="ICD10:I85.00", source="ICD10:I85.00/inferred", source="ICD10:I85.9", source="MONDOLEX:0021644", source="linkedlifedata"} ! esophageal varices
property_value: exactMatch http://identifiers.org/snomedct/14223005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267092

[Term]
id: MONDO:0021645
name: esophageal varices with bleeding
xref: ICD10:I85.0 {source="MONDO:equivalentTo"}
xref: ICD10:I85.01 {source="MONDO:equivalentTo"}
xref: ICD9:456.0 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:17709002 {source="MONDO:equivalentTo"}
is_a: MONDO:0001221 {source="ICD10:I85.0", source="ICD10:I85.01", source="ICD10:I85.01/inferred", source="MONDOLEX:0021645", source="linkedlifedata"} ! esophageal varices
property_value: exactMatch http://identifiers.org/snomedct/17709002

[Term]
id: MONDO:0021650
name: uterine corpus neuroendocrine neoplasm
def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C126771]
synonym: "body of uterus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "body of uterus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of body of uterus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "uterine corpus neuroendocrine neoplasm" EXACT [NCIT:C126771]
synonym: "uterine corpus neuroendocrine tumor" EXACT [NCIT:C126771]
xref: NCIT:C126771 {source="MONDO:equivalentTo"}
xref: UMLS:C4288048 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C126771"} ! neuroendocrine neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C126771"} ! corpus uteri neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288048
property_value: exactMatch NCIT:C126771

[Term]
id: MONDO:0021651
name: synpolydactyly
def: "a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." [https://en.wikipedia.org/wiki/Synpolydactyly]
synonym: "synpolydactyly" EXACT [NCIT:C75003]
xref: MESH:C538153 {source="MONDO:equivalentTo"}
xref: NCIT:C75003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021002 ! syndactyly (disease)
is_a: MONDO:0021003 ! polydactyly (disease)
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C75003"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C538153
property_value: exactMatch NCIT:C75003

[Term]
id: MONDO:0021652
name: diffuse type adenocarcinoma
def: "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." [NCIT:C4127]
synonym: "diffuse type adenocarcinoma" EXACT [NCIT:C4127]
synonym: "diffuse type carcinoma" EXACT [NCIT:C4127]
xref: ICDO:8145/3 {source="NCIT:C4127"}
xref: NCIT:C4127 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="MONDOLEX:0021652", source="NCIT:C4127"} ! adenocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334280
property_value: exactMatch NCIT:C4127

[Term]
id: MONDO:0021653
name: cutaneous focal mucinosis
synonym: "focal mucinoses" RELATED []
synonym: "focal mucinosis" RELATED []
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:110981005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406659 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002523 {source="linkedlifedata"} ! cutaneous mucinosis
property_value: exactMatch http://identifiers.org/snomedct/110981005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406659

[Term]
id: MONDO:0021654
name: diffuse cutaneous mucinosis
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:238945000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406655 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002523 {source="linkedlifedata"} ! cutaneous mucinosis
property_value: exactMatch http://identifiers.org/snomedct/238945000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406655

[Term]
id: MONDO:0021655
name: secondary catabolic mucinosis of skin
xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:402723003 {source="MONDO:equivalentTo"}
xref: UMLS:C1274173 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002523 {source="linkedlifedata"} ! cutaneous mucinosis
property_value: exactMatch http://identifiers.org/snomedct/402723003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274173

[Term]
id: MONDO:0021656
name: nongerminomatous germ cell tumor
def: "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." [NCIT:C121619]
synonym: "non-dysgerminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "non-germinomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "non-seminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "Nongerminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "Nongerminomatous germ cell tumor Including central nervous system" EXACT [NCIT:C121619]
synonym: "NSGCT" RELATED [ONCOTREE:NSGCT]
xref: GARD:0010165 {source="MONDO:equivalentTo"}
xref: NCIT:C121619 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NSGCT {source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="MONDOLEX:0021656", source="NCIT:C121619"} ! germ cell tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1266158
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL480935
property_value: exactMatch NCIT:C121619

[Term]
id: MONDO:0021657
name: ovarian sex cord-stromal tumor
def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." [NCIT:C4862]
synonym: "ovarian sex cord tumor with annular tubules" RELATED [GARD:0012285]
synonym: "ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C4862]
synonym: "ovarian Sex cord-stromal tumor" EXACT [NCIT:C4862]
synonym: "ovary sex cord-stromal tumor" EXACT [MONDO:patterns/location]
synonym: "sex cord stromal tumor" RELATED [ONCOTREE:SCST]
synonym: "Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C4862]
synonym: "Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C4862]
synonym: "Sex cord-stromal tumor of ovary" EXACT [NCIT:C4862]
synonym: "sex cord-stromal tumor of ovary" EXACT []
synonym: "Sex cord-stromal tumor of the ovary" EXACT [NCIT:C4862]
xref: EFO:1000430 {source="MONDO:equivalentTo"}
xref: GARD:0012285 {source="MONDO:equivalentTo"}
xref: NCIT:C4862 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SCST {source="MONDO:equivalentTo"}
xref: UMLS:C0600113 {source="MONDO:equivalentTo", source="NCIT:C4862"}
is_a: MONDO:0006055 {source="MONDO:Redundant", source="NCIT:C4862"} ! sex cord-stromal tumor
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C4862"} ! ovarian neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0600113
property_value: exactMatch NCIT:C4862

[Term]
id: MONDO:0021658
name: vascular ectasia
synonym: "vascular ectasia" EXACT [NCIT:C45481]
xref: NCIT:C45481 {source="MONDO:equivalentTo"}
xref: UMLS:C0002959 {source="NCIT:C45481", source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="NCIT:C45481/inferred"} ! vascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002959
property_value: exactMatch NCIT:C45481

[Term]
id: MONDO:0021659
name: combined carcinoid and adenocarcinoma
def: "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." [NCIT:C4139]
subset: gard_rare
synonym: "adenocarcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "adenocarcinoid tumor" EXACT [NCIT:C4139]
synonym: "combined carcinoid and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "combined carcinoid neoplasm and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "combined carcinoid tumor and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "composite carcinoid" EXACT [NCIT:C4139]
synonym: "composite carcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "composite carcinoid tumor" EXACT [NCIT:C4139]
synonym: "mixed carcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "mixed carcinoid tumor" EXACT [NCIT:C4139]
xref: GARD:0005741 {source="MONDO:equivalentTo"}
xref: ICDO:8244/3 {source="NCIT:C4139"}
xref: ICDO:8245/3 {source="NCIT:C4139"}
xref: MESH:C538230 {source="MONDO:equivalentTo"}
xref: NCIT:C4139 {source="MONDO:equivalentTo"}
xref: UMLS:C0334302 {source="GARD:0005741", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4139"}
is_a: MONDO:0004993 {source="MESH:C538230/inferred", source="MONDOLEX:0021659", source="NCIT:C4139"} ! carcinoma
property_value: exactMatch http://identifiers.org/mesh/C538230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334302
property_value: exactMatch NCIT:C4139

[Term]
id: MONDO:0021660
name: deep seated dermatophytosis
def: "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." [NCIT:C35073]
synonym: "deep seated dermatophytosis" EXACT [NCIT:C35073]
xref: NCIT:C35073 {source="MONDO:equivalentTo"}
xref: UMLS:C1395264 {source="NCIT:C35073", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021201 {source="NCIT:C35073"} ! skin infection
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1395264
property_value: exactMatch NCIT:C35073

[Term]
id: MONDO:0021661
name: coronary atherosclerosis
def: "Atherosclerosis of the coronary vasculature." [NCIT:C35505]
synonym: "arteriosclerosis disorder of coronary artery" EXACT [MONDO:design_pattern]
synonym: "atherosclerosis of coronary artery" BROAD []
synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location]
synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "coronary atherosclerosis" EXACT [NCIT:C35505]
xref: ICD9:414.00 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35505 {source="MONDO:equivalentTo"}
xref: SCTID:443502000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005010 {source="MONDO:Redundant", source="https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease", source="linkedlifedata", source="linkedlifedata/inferred"} ! coronary artery disease
is_a: MONDO:0005311 {source="NCIT:C35505", source="linkedlifedata"} ! atherosclerosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010054
property_value: exactMatch http://identifiers.org/snomedct/443502000
property_value: exactMatch NCIT:C35505

[Term]
id: MONDO:0021662
name: bile duct neoplasm
def: "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." [NCIT:C2898]
synonym: "bile duct neoplasm" EXACT [NCIT:C2898]
synonym: "bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2898]
synonym: "intrahepatic and extrahepatic bile duct neoplasm" EXACT [NCIT:C2898]
synonym: "intrahepatic and extrahepatic bile duct tumor" EXACT [NCIT:C2898]
synonym: "neoplasm of bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bile duct" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C2898 {source="MONDO:equivalentTo"}
xref: UMLS:C0005396 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2898"}
is_a: MONDO:0002887 {source="MONDO:Redundant", source="NCIT:C2898"} ! bile duct disease
is_a: MONDO:0005304 ! biliary tract neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005396
property_value: exactMatch NCIT:C2898

[Term]
id: MONDO:0021663
name: sarcomatoid squamous cell carcinoma
def: "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." [NCIT:C27084]
synonym: "epidermoid spindle cell carcinoma" EXACT [NCIT:C27084]
synonym: "sarcomatoid squamous cell carcinoma" EXACT [NCIT:C27084]
synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [NCIT:C27084]
synonym: "squamous cell carcinoma, sarcomatoid" EXACT [NCIT:C27084]
synonym: "squamous cell carcinoma, spindle cell" EXACT [NCIT:C27084]
synonym: "squamous cell spindle cell carcinoma" EXACT [NCIT:C27084]
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8074/3 {source="NCIT:C27084"}
xref: NCIT:C27084 {source="MONDO:equivalentTo"}
xref: SCTID:403900000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="MONDOLEX:0021663", source="NCIT:C27084", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0006406 {source="MONDO:Redundant", source="MONDOLEX:0021663", source="NCIT:C27084"} ! sarcomatoid carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C27084"} ! squamous cell carcinoma
intersection_of: MONDO:0006406 {source="NCIT:C27084"} ! sarcomatoid carcinoma
property_value: exactMatch http://identifiers.org/snomedct/403900000
property_value: exactMatch NCIT:C27084

[Term]
id: MONDO:0021664
name: cervical aortic arch
comment: Editor note: consider merging with MONDO:0017991
synonym: "aortic arch syndrome" EXACT [DOID:2508, Orphanet:99079]
xref: ICD10:Q25.4 {source="ORDO:99079/ntbt", source="Orphanet:99079"}
xref: Orphanet:99079 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0005042 ! head disease
is_a: MONDO:0015236 {source="Orphanet:99079"} ! aortic arch defects
is_a: MONDO:0020592 ! disease of pharynx
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003490
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345065
property_value: exactMatch Orphanet:99079

[Term]
id: MONDO:0021665
name: obsolete Refsum disease
def: "A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." []
comment: This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common. {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
synonym: "Refsum disease" EXACT [NCIT:C85043]
xref: NCIT:C85043 {source="MONDO:nearestEquivalentOfObsolete", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
property_value: closeMatch NCIT:C85043
is_obsolete: true
consider: MONDO:0009958

[Term]
id: MONDO:0021666
name: ear infection
def: "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." [NCIT:C27193]
synonym: "Ear infection" EXACT [NCIT:C27193]
synonym: "otitis" EXACT [NCIT:C27193]
xref: MESH:D010031 {source="MONDO:equivalentTo"}
xref: NCIT:C27193 {source="MONDO:equivalentTo"}
xref: UMLS:C0699744 {source="MONDO:equivalentTo", source="NCIT:C27193"}
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C27193/inferred"} ! inflammatory disease
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27193/inferred"} ! disease of ear
property_value: exactMatch http://identifiers.org/mesh/D010031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0699744
property_value: exactMatch NCIT:C27193

[Term]
id: MONDO:0021667
name: neuralgia
def: "A pain disorder characterize by pain in the distribution of a nerve or nerves" [https://en.wikipedia.org/wiki/Neuralgia]
synonym: "neuralgia" EXACT []
synonym: "pain, nerve" RELATED [MESH:D009437]
synonym: "pain, neuropathic" RELATED [MESH:D009437]
synonym: "paroxysmal nerve pain" RELATED [MESH:D009437]
synonym: "paroxysmal nerve pains" RELATED [MESH:D009437]
xref: ICD9:729.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D009437 {source="MONDO:equivalentTo"}
xref: SCTID:16269008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005244 ! peripheral neuropathy
is_a: MONDO:0021668 {source="MONDO:Redundant", source="linkedlifedata"} ! disorder involving pain
property_value: exactMatch http://identifiers.org/mesh/D009437
property_value: exactMatch http://identifiers.org/snomedct/16269008

[Term]
id: MONDO:0021668
name: disorder involving pain
synonym: "pain disorder" EXACT [MONDO:0000691]
xref: DOID:0060164 {source="MONDO:equivalentTo"}
xref: SCTID:373673007 {source="MONDO:equivalentTo"}
xref: UMLS:C1300028 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="DOID:0060164/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! disease or disorder
relationship: excluded_subClassOf MONDO:0003117 {source="DOID:0060164", source="https://github.com/monarch-initiative/mondo/issues/130"} ! somatoform disorder
property_value: exactMatch DOID:0060164
property_value: exactMatch http://identifiers.org/mesh/D010146
property_value: exactMatch http://identifiers.org/snomedct/373673007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1300028

[Term]
id: MONDO:0021669
name: post-infectious disorder
xref: ICD9:139.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:123976001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
relationship: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/snomedct/123976001

[Term]
id: MONDO:0021670
name: post-infectious syndrome
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0021673
name: post-bacterial disorder
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_arises_from_feature MONDO:0005113 ! bacterial infectious disease
relationship: disease_arises_from_feature MONDO:0005113 ! bacterial infectious disease

[Term]
id: MONDO:0021674
name: post-viral disorder
xref: ICD9:139.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:123948009 {source="MONDO:equivalentTo"}
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0000001 ! disease or disorder
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
relationship: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/snomedct/123948009

[Term]
id: MONDO:0021677
name: post-infectious neuralgia
synonym: "postinfectious neuralgia" EXACT []
xref: ICD9:729.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:17111003 {source="MONDO:equivalentTo"}
xref: UMLS:C0032772 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021667 ! neuralgia
is_a: MONDO:0021674 ! post-viral disorder
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/snomedct/17111003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032772

[Term]
id: MONDO:0021678
name: gram-negative bacterial infections
def: "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." [MESH:D016905]
comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now
synonym: "bacterial infection, gram-negative" RELATED [MESH:D016905]
synonym: "bacterial infections, gram negative" RELATED [MESH:D016905]
synonym: "bacterial infections, gram-negative" RELATED [MESH:D016905]
synonym: "gram negative bacterial infections" RELATED [MESH:D016905]
synonym: "gram-negative bacterial infection" RELATED [MESH:D016905]
synonym: "infection, gram-negative bacterial" RELATED [MESH:D016905]
synonym: "infections, gram negative bacterial" RELATED [MESH:D016905]
synonym: "infections, gram-negative bacterial" RELATED [MESH:D016905]
xref: ICD9:041.85 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016905 {source="MONDO:equivalentTo"}
xref: SCTID:371583007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MESH:D016905", source="MONDOLEX:0021678", source="linkedlifedata"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D016905
property_value: exactMatch http://identifiers.org/snomedct/371583007

[Term]
id: MONDO:0021679
name: gram-positive bacterial infections
def: "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." [MESH:D016908]
comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now
synonym: "bacterial infection, Gram-positive" RELATED [MESH:D016908]
synonym: "bacterial infections, Gram Positive" RELATED [MESH:D016908]
synonym: "bacterial infections, Gram-positive" RELATED [MESH:D016908]
synonym: "Gram Positive bacterial infections" RELATED [MESH:D016908]
synonym: "Gram-positive bacterial infection" RELATED [MESH:D016908]
synonym: "infection, Gram-positive bacterial" RELATED [MESH:D016908]
synonym: "infections, Gram Positive bacterial" RELATED [MESH:D016908]
synonym: "infections, Gram-positive bacterial" RELATED [MESH:D016908]
xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D016908 {source="MONDO:equivalentTo"}
xref: SCTID:371582002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MESH:D016908", source="MONDOLEX:0021679", source="linkedlifedata"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D016908
property_value: exactMatch http://identifiers.org/snomedct/371582002

[Term]
id: MONDO:0021680
name: streptococcal infection
def: "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." [NCIT:C87062]
synonym: "infection, streptococcal" RELATED [MESH:D013290]
synonym: "infections, streptococcal" RELATED [MESH:D013290]
synonym: "streptococcal infection" EXACT [MESH:D013290, NCIT:C87062]
synonym: "Streptococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus disease or disorder" EXACT []
synonym: "Streptococcus infectious disease" EXACT []
xref: EFO:1001476 {source="MONDO:equivalentTo"}
xref: ICD9:041.00 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:041.09 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D013290 {source="MONDO:equivalentTo"}
xref: NCIT:C87062 {source="MONDO:equivalentTo"}
xref: SCTID:85769006 {source="MONDO:equivalentTo"}
xref: UMLS:C0038395 {source="NCIT:C87062", source="MONDO:equivalentTo"}
is_a: MONDO:0021679 {source="MESH:D013290", source="linkedlifedata", source="linkedlifedata/inferred"} ! gram-positive bacterial infections
property_value: exactMatch http://identifiers.org/mesh/D013290
property_value: exactMatch http://identifiers.org/snomedct/85769006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038395
property_value: exactMatch NCIT:C87062

[Term]
id: MONDO:0021681
name: sexually transmitted disease
def: "A Disease due to or propagated by sexual contact." [MESH:D012749, MONDO:cjm]
synonym: "disease (VD), venereal" EXACT [NCIT:C3365]
synonym: "disease, sexually Transmitted" RELATED [MESH:D012749]
synonym: "disease, venereal" RELATED [MESH:D012749]
synonym: "diseases, sexually Transmitted" RELATED [MESH:D012749]
synonym: "diseases, venereal" RELATED [MESH:D012749]
synonym: "infection, sexually Transmitted" RELATED [MESH:D012749]
synonym: "infections, sexually Transmitted" RELATED [MESH:D012749]
synonym: "sexually transmitted disease" EXACT [MESH:D012749]
synonym: "sexually Transmitted disorder" EXACT [NCIT:C3365]
synonym: "sexually Transmitted infection" RELATED [MESH:D012749]
synonym: "sexually Transmitted infections" RELATED [MESH:D012749]
synonym: "STD" EXACT [NCIT:C3365]
synonym: "STDs" RELATED [MESH:D012749]
synonym: "STI" RELATED [MESH:D012749]
synonym: "STIs" RELATED [MESH:D012749]
synonym: "Transmitted infection, sexually" RELATED [MESH:D012749]
synonym: "Transmitted infections, sexually" RELATED [MESH:D012749]
synonym: "VD" EXACT [NCIT:C3365]
synonym: "VD, venereal disease" EXACT [NCIT:C3365]
synonym: "venereal disease" RELATED [MESH:D012749]
synonym: "venereal disease (VD)" EXACT [NCIT:C3365]
synonym: "venereal diseases" RELATED [MESH:D012749]
xref: ICD10:A50.A64 {source="MONDO:equivalentTo"}
xref: ICD9:099.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:099.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012749 {source="MONDO:equivalentTo"}
xref: NCIT:C3365 {source="MONDO:equivalentTo"}
xref: SCTID:8098009 {source="MONDO:equivalentTo"}
xref: UMLS:C0036916 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005039 ! reproductive system disease
is_a: MONDO:0005550 {source="ICD10:A50.A64", source="MONDO:Redundant", source="NCIT:C3365", source="linkedlifedata"} ! infectious disease
property_value: exactMatch http://identifiers.org/mesh/D012749
property_value: exactMatch http://identifiers.org/snomedct/8098009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036916
property_value: exactMatch NCIT:C3365

[Term]
id: MONDO:0021682
name: viral sexually transmitted disease
def: "Viral diseases which are potentially transmitted or propagated by sexual conduct." [MESH:D015229, MONDO:cjm]
synonym: "disease, viral venereal" RELATED [MESH:D015229]
synonym: "diseases, viral venereal" RELATED [MESH:D015229]
synonym: "sexually Transmitted disease, viral" RELATED [MESH:D015229]
synonym: "venereal disease, viral" RELATED [MESH:D015229]
synonym: "venereal diseases, viral" RELATED [MESH:D015229]
synonym: "viral sexually transmitted disease" EXACT [MESH:D015229]
synonym: "viral sexually Transmitted diseases" RELATED [MESH:D015229]
synonym: "viral venereal disease" RELATED [MESH:D015229]
synonym: "viral venereal diseases" RELATED [MESH:D015229]
xref: MESH:D015229 {source="MONDO:equivalentTo"}
xref: UMLS:C0036918 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="MESH:D015229/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0021681 {source="MESH:D015229", source="MONDO:Redundant", source="MONDOLEX:0021682"} ! sexually transmitted disease
property_value: exactMatch http://identifiers.org/mesh/D015229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036918

[Term]
id: MONDO:0021683
name: obsolete transmissible disease
def: "OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process." [MONDO:cjm]
is_obsolete: true
consider: MONDO:0005550

[Term]
id: MONDO:0021684
name: obsolete infectious disease of central nervous system
is_obsolete: true
replaced_by: MONDO:0024619

[Term]
id: MONDO:0021697
name: chlamydia infectious disease
def: "Infections with bacteria of the genus CHLAMYDIA." [MESH:D002690]
synonym: "Chlamydia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia disease or disorder" EXACT []
synonym: "Chlamydia infection" RELATED [MESH:D002690]
synonym: "Chlamydia infectious disease" EXACT []
synonym: "chlamydia infectious disease" EXACT []
synonym: "Chlamydophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydophila disease or disorder" EXACT []
synonym: "infection, Chlamydia" RELATED [MESH:D002690]
synonym: "infections, Chlamydia" RELATED [MESH:D002690]
xref: EFO:1000863 {source="MONDO:equivalentTo"}
xref: MESH:D002690 {source="MONDO:equivalentTo"}
xref: MESH:D023521 {source="MONDO:equivalentTo", source="EFO:1000863"}
xref: MONDO:0006697 {source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0005323 {source="MESH:D002690"} ! bacterial sexually transmitted disease
is_a: MONDO:0020776 ! chlamydiaceae infections
property_value: closeMatch DOID:11264
property_value: exactMatch http://identifiers.org/mesh/D002690
property_value: exactMatch http://identifiers.org/mesh/D023521

[Term]
id: MONDO:0021698
name: alcohol-related disorders
def: "Disorders related to or resulting from abuse or mis-use of alcohol." [MESH:D019973]
synonym: "alcohol related disorders" RELATED [MESH:D019973]
synonym: "alcohol-related disorder" RELATED [MESH:D019973]
synonym: "disorder, alcohol-related" RELATED [MESH:D019973]
synonym: "disorders, alcohol-related" RELATED [MESH:D019973]
xref: MESH:D019973 {source="MONDO:equivalentTo"}
xref: SCTID:29212009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002494 {source="MESH:D019973", source="MONDO:Redundant"} ! substance-related disorder
property_value: exactMatch http://identifiers.org/mesh/D019973
property_value: exactMatch http://identifiers.org/snomedct/29212009

[Term]
id: MONDO:0021699
name: alcohol-induced disorders
def: "Disorders stemming from the misuse and abuse of alcohol." [MESH:D020751]
synonym: "alcohol induced disorders" RELATED [MESH:D020751]
synonym: "alcohol-induced disorder" RELATED [MESH:D020751]
xref: MESH:D020751 {source="MONDO:equivalentTo"}
xref: SCTID:719848005 {source="MONDO:equivalentTo"}
xref: UMLS:C0236970 {source="MONDO:equivalentTo"}
is_a: MONDO:0021698 {source="MESH:D020751"} ! alcohol-related disorders
property_value: exactMatch http://identifiers.org/mesh/D020751
property_value: exactMatch http://identifiers.org/snomedct/719848005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236970

[Term]
id: MONDO:0021702
name: alcohol amnestic disorder
def: "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" [MESH:D000425]
synonym: "alcohol amnestic disorders" RELATED [MESH:D000425]
synonym: "alcohol amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol amnestic syndromes" RELATED [MESH:D000425]
synonym: "alcohol induced amnestic psychosis" RELATED [MESH:D000425]
synonym: "alcohol induced amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced Dysmnesic psychosis" RELATED [MESH:D000425]
synonym: "alcohol induced Dysmnesic syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced persisting amnestic disorder" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic psychoses" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic psychosis" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic psychoses" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic psychosis" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced Korsakoff syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced persisting amnestic disorder" RELATED [MESH:D000425]
synonym: "alcoholic Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcoholic Korsakoff syndromes" RELATED [MESH:D000425]
synonym: "amnestic disorder, alcohol" RELATED [MESH:D000425]
synonym: "amnestic disorders, alcohol" RELATED [MESH:D000425]
synonym: "amnestic psychoses, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic psychosis, alcohol induced" RELATED [MESH:D000425]
synonym: "amnestic psychosis, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic syndrome, alcohol" RELATED [MESH:D000425]
synonym: "amnestic syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic syndromes, alcohol" RELATED [MESH:D000425]
synonym: "amnestic syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic psychoses, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic psychosis, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndrome, alcoholic" RELATED [MESH:D000425]
synonym: "Korsakoff syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndromes, alcoholic" RELATED [MESH:D000425]
synonym: "psychoses, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "psychoses, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "psychosis, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "psychosis, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol amnestic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced Korsakoff" RELATED [MESH:D000425]
synonym: "syndrome, alcoholic Korsakoff" RELATED [MESH:D000425]
synonym: "syndromes, alcohol amnestic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced Korsakoff" RELATED [MESH:D000425]
synonym: "syndromes, alcoholic Korsakoff" RELATED [MESH:D000425]
xref: EFO:1001759 {source="MONDO:equivalentTo"}
xref: MESH:D000425 {source="MONDO:equivalentTo"}
xref: SCTID:73097000 {source="MONDO:equivalentTo"}
is_a: MONDO:0001152 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! amnestic disorder
is_a: MONDO:0021698 {source="MESH:D000425", source="MESH:D000425/inferred"} ! alcohol-related disorders
property_value: exactMatch http://identifiers.org/mesh/D000425
property_value: exactMatch http://identifiers.org/snomedct/73097000

[Term]
id: MONDO:0021718
name: polyneuritis
def: "Inflammation of several peripheral nerves." [NCIT:C26864]
synonym: "Inflammatory polyneuropathy" RELATED [UMLS:C0032541]
synonym: "inflammatory polyneuropathy" RELATED []
synonym: "Multiple neuritis" RELATED [GTR:AN1355640, HP:0031003]
synonym: "Polyneuritides" RELATED [MSH:D009443]
synonym: "Polyneuritis" RELATED [GTR:AN1353837, HP:0031003, MSH:D009443, NCIT:C26864, SNOMEDCT_US:76886005]
synonym: "polyneuritis" EXACT [NCIT:C26864]
xref: GTR:AN1353837 {source="UMLS:C0032541"}
xref: GTR:AN1355640 {source="UMLS:C0032541"}
xref: HP:0031003 {source="UMLS:C0032541"}
xref: NCIT:C26864 {source="MONDO:equivalentTo", source="UMLS:C0032541"}
xref: SCTID:76886005 {source="MONDO:equivalentTo", source="UMLS:C0032541"}
xref: UMLS:C0032541 {source="MONDO:equivalentTo"}
is_a: MONDO:0001824 {source="NCIT:C26864", source="linkedlife"} ! polyneuropathy
is_a: MONDO:0002122 {source="NCIT:C26864"} ! neuritis
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: MONDO:0002122 ! neuritis
property_value: exactMatch http://identifiers.org/snomedct/76886005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032541
property_value: exactMatch NCIT:C26864

[Term]
id: MONDO:0021720
name: fetal alcohol spectrum disorders
def: "An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ethanol during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, fetal growth retardation, central nervous system abnormalities, cognitive and/or behavioral dysfunction, birth defects. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity." [MESH:D063647]
subset: gard_rare
synonym: "alcohol related birth defects" RELATED [MESH:D063647]
synonym: "alcohol related neurodevelopmental disorder" RELATED [MESH:D063647]
synonym: "alcohol-related birth defects" RELATED [MESH:D063647]
synonym: "alcohol-related birth defects (ARBD) - type" RELATED [GARD:0000599]
synonym: "alcohol-related neurodevelopmental disorder (ARND) - type" RELATED [GARD:0000599]
synonym: "birth defects, alcohol-related" RELATED [MESH:D063647]
synonym: "FAE (fetal alcohol effects)" RELATED [MESH:D063647]
synonym: "FAEs (fetal alcohol effects)" RELATED [MESH:D063647]
synonym: "FASD" RELATED [GARD:0000599, MESH:D063647]
synonym: "FASDs" RELATED [MESH:D063647]
synonym: "fetal alcohol syndrome" RELATED [MESH:D063647]
synonym: "fetal alcohol syndrome (FAS) - type" RELATED [GARD:0000599]
synonym: "growth retardation, facial abnormalities, and central nervous system dysfunction" RELATED [MESH:D063647]
synonym: "partial fetal alcohol syndrome" RELATED [MESH:D063647]
synonym: "syndrome, fetal alcohol" RELATED [MESH:D063647]
xref: GARD:0000599 {source="MONDO:equivalentTo"}
xref: MESH:D063647 {source="MONDO:equivalentTo"}
xref: UMLS:CN036067 {source="MONDO:equivalentTo"}
is_a: MONDO:0021699 {source="MESH:D063647"} ! alcohol-induced disorders
property_value: exactMatch http://identifiers.org/mesh/D063647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036067

[Term]
id: MONDO:0021722
name: vulvodynia
def: "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." [https://en.wikipedia.org/wiki/Vulvodynia]
synonym: "vulvodynia" EXACT []
xref: ICD9:625.70 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D056650 {source="MONDO:equivalentTo"}
xref: SCTID:238968009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002263 ! female reproductive system disease
is_a: MONDO:0021668 {source="linkedlifedata"} ! disorder involving pain
property_value: exactMatch http://identifiers.org/mesh/D056650
property_value: exactMatch http://identifiers.org/snomedct/238968009

[Term]
id: MONDO:0021723
name: vaginismus
def: "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." [NCIT:C78703]
synonym: "vaginismus" EXACT [NCIT:C78703]
xref: ICD10:N94.2 {source="MONDO:equivalentTo"}
xref: MESH:D052065 {source="MONDO:equivalentTo"}
xref: UMLS:C2004487 {source="MONDO:equivalentTo", source="NCIT:C78703"}
is_a: MONDO:0001433 ! vaginal disease
is_a: MONDO:0021668 ! disorder involving pain
property_value: exactMatch http://identifiers.org/mesh/D052065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2004487
property_value: exactMatch NCIT:C78703

[Term]
id: MONDO:0021725
name: obsolete Abderhalden-Kaufmann-Lignac syndrome
is_obsolete: true
replaced_by: MONDO:0100151

[Term]
id: MONDO:0021726
name: abdominal cystic lymphangioma
def: "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.." [GARD:0000439]
subset: gard_rare
synonym: "abdomen cystic lymphangioma" EXACT [MONDO:patterns/location]
synonym: "abdominal retroperitoneal lymphangioma" RELATED [GARD:0000439, MESH:C535553]
synonym: "RCL" RELATED [GARD:0000439]
synonym: "retroperitoneal cystic lymphangioma" RELATED [GARD:0000439, MESH:C535553]
xref: GARD:0000439 {source="MONDO:equivalentTo"}
xref: MESH:C535553 {source="MONDO:equivalentTo"}
xref: UMLS:C2930929 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000439"}
is_a: MONDO:0009761 {source="MESH:C535553", source="MONDOLEX:0021726"} ! cystic hygroma
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch http://identifiers.org/mesh/C535553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930929
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma xsd:anyURI {source="GARD:0000439"}

[Term]
id: MONDO:0021727
name: aberrant subclavian artery
def: "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram ). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." [GARD:0005706]
subset: gard_rare
synonym: "aberrant left subclavian artery" NARROW [GARD:0005706, MESH:C535555]
synonym: "aberrant right subclavian artery" NARROW [GARD:0005706, MESH:C535555]
synonym: "aberrant subclavian artery" EXACT []
synonym: "congenital malposition of subclavian artery" EXACT []
synonym: "congenital malpositioned subclavian artery" RELATED []
xref: GARD:0005706 {source="MONDO:equivalentTo"}
xref: MESH:C535555 {source="MONDO:equivalentTo"}
xref: SCTID:93353003 {source="MONDO:equivalentTo"}
xref: UMLS:C2936828 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
property_value: exactMatch http://identifiers.org/mesh/C535555
property_value: exactMatch http://identifiers.org/snomedct/93353003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936828
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery xsd:anyURI {source="GARD:0005706"}

[Term]
id: MONDO:0021736
name: proctosigmoiditis
def: "Inflammation of the sigmoid colon and rectum." [NCIT:C34950]
synonym: "Proctosigmoiditis" RELATED [MSH:D011350, NCIT:C34950, SNOMEDCT_US:41364008]
synonym: "proctosigmoiditis" EXACT [NCIT:C34950]
synonym: "Rectosigmoiditis" RELATED [MSH:D011350, SNOMEDCT_US:41364008]
synonym: "rectosigmoiditis" RELATED []
xref: ICD9:569.89 {source="linkedlife"}
xref: NCIT:C34950 {source="MONDO:equivalentTo", source="UMLS:C0033252"}
xref: SCTID:41364008 {source="MONDO:equivalentTo", source="UMLS:C0033252"}
xref: UMLS:C0033252 {source="MONDO:equivalentTo"}
is_a: MONDO:0024278 {source="NCIT:C34950", source="UMLS:C0033252"} ! proctocolitis
property_value: closeMatch http://identifiers.org/mesh/D011350
property_value: exactMatch http://identifiers.org/snomedct/41364008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033252
property_value: exactMatch NCIT:C34950

[Term]
id: MONDO:0021739
name: prurigo
def: "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" [MESH:D011536]
synonym: "Itchy skin eruption" RELATED [UMLS:C0033771]
synonym: "itchy skin eruption" RELATED []
synonym: "Prurigo" RELATED [MSH:D011536, SNOMEDCT_US:64144002]
synonym: "prurigo" RELATED []
synonym: "Pruritic rash" RELATED [UMLS:C0033771]
synonym: "pruritic rash" EXACT []
xref: ICD9:698.2 {source="linkedlife"}
xref: ICD9:698.8 {source="linkedlife"}
xref: MESH:D011536 {source="MONDO:equivalentTo", source="UMLS:C0033771"}
xref: SCTID:64144002 {source="MONDO:equivalentTo", source="UMLS:C0033771"}
xref: UMLS:C0033771 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 ! exanthem (disease)
property_value: exactMatch http://identifiers.org/mesh/D011536
property_value: exactMatch http://identifiers.org/snomedct/64144002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033771

[Term]
id: MONDO:0021742
name: puerperal infection
def: "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." [MESH:D011645]
synonym: "Infection, Puerperal" RELATED [MESH:D011645, MSH:D011645]
synonym: "Infections, Puerperal" RELATED [MESH:D011645, MSH:D011645]
synonym: "Puerperal Infection" RELATED [MSH:D011645]
synonym: "Puerperal Infections" RELATED [MESH:D011645, MSH:D011645]
xref: EFO:1001407 {source="MONDO:equivalentTo"}
xref: MESH:D011645 {source="UMLS:C0034041", source="MONDO:equivalentTo"}
xref: UMLS:C0034041 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0044013 ! puerperal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0044013 ! puerperal disorder
property_value: exactMatch http://identifiers.org/mesh/D011645
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034041

[Term]
id: MONDO:0021745
name: psychosocial short stature
def: "a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." [https://en.wikipedia.org/wiki/Psychosocial_short_stature]
subset: gard_rare
synonym: "abuse dwarfism syndrome" RELATED [GARD:0009440]
synonym: "child abuse dwarfism" RELATED [GARD:0009440, MESH:C535569]
synonym: "Kaspar Hauser syndrome" RELATED [https://en.wikipedia.org/wiki/Psychosocial_short_stature]
synonym: "psychosocial dwarfism" RELATED [GARD:0009440, MESH:C535569]
xref: GARD:0009440 {source="MONDO:equivalentTo"}
xref: MESH:C535569 {source="MONDO:equivalentTo"}
xref: SCTID:39465007 {source="MONDO:equivalentTo"}
xref: UMLS:C1455735 {source="MONDO:equivalentTo", source="GARD:0009440"}
is_a: MONDO:0005287 {source="MESH:C535569"} ! developmental disability
is_a: MONDO:0006909 ! pituitary dwarfism
property_value: exactMatch http://identifiers.org/mesh/C535569
property_value: exactMatch http://identifiers.org/snomedct/39465007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1455735
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature xsd:anyURI {source="GARD:0009440"}

[Term]
id: MONDO:0021746
name: pyelocystitis
synonym: "Cystopyelitis" RELATED [MESH:D053653, MSH:D053653]
synonym: "Pyelocystitis" RELATED [MSH:D053653]
xref: EFO:1001835 {source="MONDO:equivalentTo"}
xref: MESH:D053653 {source="UMLS:C0034184", source="MONDO:equivalentTo"}
xref: UMLS:C0034184 {source="MONDO:equivalentTo"}
is_a: MONDO:0006032 {source="MESH:D053653"} ! cystitis
is_a: MONDO:0006938 {source="MESH:D053653"} ! pyelitis
property_value: exactMatch http://identifiers.org/mesh/D053653
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034184

[Term]
id: MONDO:0021747
name: Acanthamoeba infectious disease
def: "A infectious disease involving the Acanthamoeba." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Acanthamoeba infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "acanthamoebiasis" RELATED []
synonym: "acanthamoebosis" RELATED []
synonym: "infection by Acanthamoeba" EXACT []
synonym: "infection caused by Acanthamoeba" RELATED []
synonym: "infections, Acanthamoeba" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: SCTID:49649001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/snomedct/49649001

[Term]
id: MONDO:0021750
name: pyonephrosis
def: "Pus within the collecting system of the kidney." [NCIT:C123032]
synonym: "Hydronephrosis, Infected" RELATED [MESH:D053018, MSH:D053018]
synonym: "Infected Hydronephrosis" RELATED [MESH:D053018, MSH:D053018]
synonym: "Pyonephrosis" RELATED [MSH:D053018, NCIT:C123032, SNOMEDCT_US:48631008]
synonym: "pyonephrosis" EXACT [NCIT:C123032]
xref: MESH:D053018 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: NCIT:C123032 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: SCTID:48631008 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: UMLS:C0034216 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="UMLS:C0034216"} ! kidney disease
property_value: exactMatch http://identifiers.org/mesh/D053018
property_value: exactMatch http://identifiers.org/snomedct/48631008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034216
property_value: exactMatch NCIT:C123032

[Term]
id: MONDO:0021752
name: Achard-Thiers syndrome
def: "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" [https://rarediseases.org/rare-diseases/achard-thiers-syndrome/, ISBN:9780781730631]
subset: gard_rare
synonym: "Achard Thiers syndrome" RELATED [GARD:0005709]
synonym: "diabetes in bearded women" RELATED [GARD:0005709]
synonym: "diabetic-bearded woman syndrome" RELATED [GARD:0005709]
xref: GARD:0005709 {source="MONDO:equivalentTo"}
xref: MESH:C536013 {source="MONDO:equivalentTo"}
xref: SCTID:34041001 {source="MONDO:equivalentTo"}
xref: UMLS:C0271732 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0005709"}
is_a: MONDO:0002254 {source="MONDOLEX:0021752"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0015898 ! adrenogenital syndrome
relationship: disease_shares_features_of MONDO:0018912 ! Cushing syndrome
property_value: exactMatch http://identifiers.org/mesh/C536013
property_value: exactMatch http://identifiers.org/snomedct/34041001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271732
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome xsd:anyURI {source="GARD:0005709"}

[Term]
id: MONDO:0021758
name: acquired agranulocytosis
def: "Agranulocytosis that is autoimmune in origin." [https://orcid.org/0000-0001-5208-3432, PMID:443260]
subset: gard_rare
synonym: "agranulocytic angina" RELATED [MESH:C538171]
synonym: "agranulocytosis, acquired" RELATED [GARD:0005717]
synonym: "granulocytopenia, primary" RELATED [MESH:C538171]
synonym: "neutropenia, malignant" RELATED [MESH:C538171]
xref: GARD:0005717 {source="MONDO:equivalentTo"}
xref: MESH:C538171 {source="MONDO:equivalentTo"}
xref: SCTID:72050006 {source="MONDO:equivalentTo"}
is_a: MONDO:0001609 {source="MESH:C538171"} ! agranulocytosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0235585
property_value: exactMatch http://identifiers.org/mesh/C538171
property_value: exactMatch http://identifiers.org/snomedct/72050006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis xsd:anyURI {source="GARD:0005717"}

[Term]
id: MONDO:0021759
name: acquired fructose intolerance
def: "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome . The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance ), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." [GARD:0002399]
subset: gard_rare
synonym: "acquired fructose intolerance" EXACT []
synonym: "dietary fructose intolerance" RELATED [GARD:0002399]
synonym: "fructose malabsorption" RELATED [GARD:0002399]
synonym: "intestinal fructose intolerance" RELATED [GARD:0002399]
xref: GARD:0002399 {source="MONDO:equivalentTo"}
xref: SCTID:413427002 {source="MONDO:equivalentTo"}
is_a: MONDO:0017689 {source="linkedlifedata", source="rare-list"} ! disorder of fructose metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1531694
property_value: exactMatch http://identifiers.org/snomedct/413427002
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance xsd:anyURI {source="GARD:0002399"}

[Term]
id: MONDO:0021761
name: acral dysostosis dyserythropoiesis syndrome
def: "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." [https://orcid.org/0000-0001-5208-3432, PMID:7641772]
subset: gard_rare
xref: GARD:0000478 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0021761"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome xsd:anyURI {source="GARD:0000478"}

[Term]
id: MONDO:0021762
name: acrocoxomesomelic dysplasia
def: "severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." [PMID:6331794]
subset: gard_rare
synonym: "acro-coxo-mesomelic dwarfism" EXACT [PMID:6331794]
xref: GARD:0000483 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 ! primary bone dysplasia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia xsd:anyURI {source="GARD:0000483"}

[Term]
id: MONDO:0021764
name: acrofacial dysostosis preis type
def: "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand." [https://orcid.org/0000-0001-5208-3432, PMID:7625437]
subset: gard_rare
subset: n_of_one
xref: GARD:0000495 {source="MONDO:equivalentTo"}
is_a: MONDO:0018237 ! acrofacial dysostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type xsd:anyURI {source="GARD:0000495"}

[Term]
id: MONDO:0021765
name: radiculitis
def: "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." [NCIT:C78581]
synonym: "Inflammation, Nerve Root" RELATED [MSH:D011843]
synonym: "Nerve Root Inflammation" RELATED [MSH:D011843]
synonym: "Nerve Root Inflammations" RELATED [MSH:D011843]
synonym: "Radiculitides" RELATED [MSH:D011843]
synonym: "Radiculitis" RELATED [MSH:D011843, NCIT:C78581, SNOMEDCT_US:82473003]
synonym: "radiculitis" EXACT [NCIT:C78581]
xref: ICD9:729.2 {source="linkedlife"}
xref: NCIT:C78581 {source="MONDO:equivalentTo", source="UMLS:C0034544"}
xref: SCTID:82473003 {source="MONDO:equivalentTo", source="UMLS:C0034544"}
xref: UMLS:C0034544 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/82473003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034544
property_value: exactMatch NCIT:C78581

[Term]
id: MONDO:0021777
name: acute rheumatic heart disease
def: "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)." [NCIT:C34985]
synonym: "Active rheumatic fever with heart involvement" RELATED [UMLS:C0035440]
synonym: "active rheumatic fever with heart involvement" RELATED []
synonym: "acute rheumatic carditis" RELATED [UMLS:C0035440]
synonym: "acute rheumatic fever with heart involvement" RELATED [UMLS:C0035440]
synonym: "acute Rheumatic Heart Disease" RELATED [NCIT:C34985]
synonym: "acute rheumatic heart disease" EXACT [NCIT:C34985]
synonym: "acute rheumatic heart disease" RELATED [UMLS:C0035440]
xref: ICD9:391.8 {source="linkedlife"}
xref: ICD9:391.9 {source="linkedlife"}
xref: NCIT:C34985 {source="UMLS:C0035440", source="MONDO:equivalentTo"}
xref: SCTID:312591002 {source="UMLS:C0035440", source="MONDO:equivalentTo"}
xref: UMLS:C0035440 {source="MONDO:equivalentTo"}
is_a: MONDO:0006955 {source="NCIT:C34985", source="linkedlife"} ! rheumatic heart disease
property_value: exactMatch http://identifiers.org/snomedct/312591002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035440
property_value: exactMatch NCIT:C34985

[Term]
id: MONDO:0021783
name: streptococcal sore throat
def: "Inflammation of the throat due to Streptococcus pyogenes." [NCIT:C116003]
synonym: "Septic sore throat" RELATED [UMLS:C0036689]
synonym: "Strep throat" RELATED [UMLS:C0036689]
synonym: "strep throat" EXACT [NCIT:C116003]
synonym: "Strept throat" RELATED [UMLS:C0036689]
synonym: "Streptococcal angina" RELATED [UMLS:C0036689]
synonym: "Streptococcal Pharyngitis" RELATED [NCIT:C116003]
synonym: "Streptococcal pharyngitis" RELATED [UMLS:C0036689]
synonym: "streptococcal pharyngitis" EXACT [NCIT:C116003]
synonym: "Streptococcal sore throat" RELATED [UMLS:C0036689]
xref: EFO:1002024 {source="MONDO:equivalentTo"}
xref: ICD9:034.0 {source="linkedlife"}
xref: NCIT:C116003 {source="MONDO:equivalentTo", source="UMLS:C0036689"}
xref: SCTID:43878008 {source="MONDO:equivalentTo", source="UMLS:C0036689"}
xref: UMLS:C0036689 {source="MONDO:equivalentTo"}
is_a: MONDO:0002258 {source="NCIT:C116003", source="UMLS:C0036689", source="linkedlife"} ! pharyngitis
is_a: MONDO:0021680 {source="linkedlife"} ! streptococcal infection
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: exactMatch http://identifiers.org/snomedct/43878008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036689
property_value: exactMatch NCIT:C116003

[Term]
id: MONDO:0021804
name: silicotuberculosis
def: "Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis." [MESH:D012830]
synonym: "Silicotuberculoses" RELATED [MESH:D012830, MSH:D012830]
synonym: "Silicotuberculosis" RELATED [MSH:D012830, SNOMEDCT_US:233763009]
synonym: "silicotuberculosis" EXACT []
xref: ICD9:502 {source="linkedlife"}
xref: MESH:D012830 {source="MONDO:equivalentTo", source="UMLS:C0037118"}
xref: SCTID:233763009 {source="MONDO:equivalentTo", source="UMLS:C0037118"}
xref: UMLS:C0037118 {source="MONDO:equivalentTo"}
is_a: MONDO:0005960 {source="MESH:D012830"} ! silicosis
is_a: MONDO:0006052 {source="MESH:D012830", source="UMLS:C0037118"} ! pulmonary tuberculosis
is_a: MONDO:0024355 ! respiratory tract infectious disease
intersection_of: MONDO:0005960 ! silicosis
intersection_of: MONDO:0018076 ! tuberculosis
property_value: exactMatch http://identifiers.org/mesh/D012830
property_value: exactMatch http://identifiers.org/snomedct/233763009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037118

[Term]
id: MONDO:0021805
name: acromesomelic dysplasia, Campailla Martinelli type
subset: gard_rare
synonym: "acromesomelic dysplasia Campailla Martinelli type" RELATED [MESH:C535659]
synonym: "mesomelic dwarfism Campailla-Martinelli type" RELATED [GARD:0000505, MESH:C535659]
xref: GARD:0000505 {source="MONDO:equivalentTo"}
xref: MESH:C535659 {source="MONDO:equivalentTo"}
xref: UMLS:C2930969 {source="MONDO:equivalentTo", source="GARD:0000505"}
is_a: MONDO:0019696 {source="MONDO:cjm"} ! acromesomelic dysplasia
property_value: exactMatch http://identifiers.org/mesh/C535659
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930969
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type xsd:anyURI {source="GARD:0000505"}

[Term]
id: MONDO:0021808
name: acute cholinergic dysautonomia
def: "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset." [https://orcid.org/0000-0001-5208-3432, PMID:8194274]
subset: gard_rare
synonym: "ACD" RELATED [GARD:0009394]
xref: GARD:0009394 {source="MONDO:equivalentTo"}
xref: MESH:C535672 {source="MONDO:equivalentTo"}
xref: UMLS:C2930973 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021809 {source="MESH:C535672", source="MONDOLEX:0021808"} ! primary dysautonomia
property_value: exactMatch http://identifiers.org/mesh/C535672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930973
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia xsd:anyURI {source="GARD:0009394"}

[Term]
id: MONDO:0021809
name: primary dysautonomia
def: "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate." [MESH:D054969]
synonym: "dysautonomia" RELATED [MESH:D054969]
synonym: "dysautonomia, primary" RELATED [MESH:D054969]
synonym: "Dysautonomias" RELATED [MESH:D054969]
synonym: "Dysautonomias, primary" RELATED [MESH:D054969]
synonym: "primary dysautonomia" EXACT [MESH:D054969]
xref: MESH:D054969 {source="MONDO:equivalentTo"}
is_a: MONDO:0044872 ! dysautonomia
property_value: exactMatch http://identifiers.org/mesh/D054969

[Term]
id: MONDO:0021811
name: acute mountain sickness
def: "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances." [https://orcid.org/0000-0001-5208-3432, PMID:11450659]
subset: gard_rare
synonym: "acosta's disease" RELATED []
synonym: "acute mountain sickness" EXACT []
synonym: "altitude anoxia" RELATED [GARD:0005730]
synonym: "altitude sickness" RELATED [GARD:0005730]
synonym: "high altitude cerebral edema" RELATED [GARD:0005730]
synonym: "high altitude pulmonary edema" RELATED [GARD:0005730]
synonym: "Mountain sickness" RELATED [GARD:0005730]
synonym: "soroche" RELATED []
xref: GARD:0005730 {source="MONDO:equivalentTo"}
xref: ICD9:993.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:78590007 {source="MONDO:equivalentTo"}
xref: UMLS:C0238284 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006625 ! altitude sickness
property_value: exactMatch http://identifiers.org/snomedct/78590007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238284
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness xsd:anyURI {source="GARD:0005730"}

[Term]
id: MONDO:0021812
name: adnexal spiradenoma/cylindroma of a sweat gland
def: "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." [NCIT:C27094]
comment: Editor note: See GARD:0010464
subset: gard_rare
synonym: "adnexal sweat gland spiradenoma/cylindroma" RELATED [GARD:0008641]
synonym: "cylindroma" EXACT [NCIT:C27094]
synonym: "cylindroma of skin" EXACT [NCIT:C27094]
synonym: "cylindroma of the skin" EXACT [NCIT:C27094]
synonym: "dermal cylindroma" EXACT [NCIT:C27094]
xref: GARD:0008641 {source="MONDO:equivalentTo"}
xref: ICDO:8200/0 {source="NCIT:C27094"}
xref: NCIT:C27094 {source="MONDO:equivalentTo"}
xref: SCTID:274903001 {source="MONDO:equivalentTo"}
is_a: MONDO:0021489 {source="NCIT:C27094"} ! benign neoplasm of sweat gland
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1305968
property_value: exactMatch http://identifiers.org/snomedct/274903001
property_value: exactMatch NCIT:C27094
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland xsd:anyURI {source="GARD:0008641"}

[Term]
id: MONDO:0021824
name: adult progressive spinal muscular atrophy, Aran Duchenne type
def: "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." [https://orcid.org/0000-0001-5208-3432, PMID:18299524]
comment: Editor note: consider merging with parent
subset: gard_rare
synonym: "adult progressive spinal muscular atrophy Aran Duchenne type" RELATED [GARD:0009132]
synonym: "adult SMA Aran Duchenne type" RELATED [GARD:0009132]
synonym: "Aran Duchenne spinal muscular atrophy" RELATED [GARD:0009132]
xref: GARD:0009132 {source="MONDO:equivalentTo"}
is_a: MONDO:0018687 ! progressive muscular atrophy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type xsd:anyURI {source="GARD:0009132"}

[Term]
id: MONDO:0021826
name: aerobic Actinomyces infection
def: "Infection with the less common aerobic antinomyces bacteria." [https://orcid.org/0000-0001-5208-3432, PMID:14875224]
subset: gard_rare
xref: GARD:0009779 {source="MONDO:equivalentTo"}
xref: MESH:C538054 {source="MONDO:equivalentTo"}
xref: UMLS:C2931717 {source="GARD:0009779", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005631 {source="MESH:C538054", source="MONDOLEX:0021826"} ! actinomycosis
property_value: exactMatch http://identifiers.org/mesh/C538054
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931717
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection xsd:anyURI {source="GARD:0009779"}

[Term]
id: MONDO:0021829
name: agnathia-microstomia-synotia
subset: gard_rare
synonym: "agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" RELATED [GARD:0010125, MESH:C538059]
synonym: "Plurimalformative syndrome" RELATED [GARD:0010125, MESH:C538059]
xref: GARD:0010125 {source="MONDO:equivalentTo"}
xref: MESH:C538059 {source="MONDO:equivalentTo"}
xref: UMLS:C2931718 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0010125"}
is_a: MONDO:0002254 {source="MONDOLEX:0021829"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C538059
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931718
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia xsd:anyURI {source="GARD:0010125"}

[Term]
id: MONDO:0021834
name: Akaba Hayasaka syndrome
def: "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." [https://orcid.org/0000-0001-5208-3432, PMID:8989469]
subset: gard_rare
synonym: "frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia" RELATED [GARD:0000577]
xref: GARD:0000577 {source="MONDO:equivalentTo"}
xref: MESH:C535609 {source="MONDO:equivalentTo"}
xref: UMLS:C2930948 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000577"}
is_a: MONDO:0005516 {source="MESH:C535609"} ! osteochondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C535609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930948
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome xsd:anyURI {source="GARD:0000577"}

[Term]
id: MONDO:0021836
name: Aksu von Stockhausen syndrome
def: "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx." [https://orcid.org/0000-0001-5208-3432, PMID:6468450]
subset: gard_rare
subset: n_of_one
synonym: "aksu von stockhausen syndrome" EXACT [MONDO:0022406]
synonym: "hereditary branchial arch defects" RELATED [GARD:0000579, MESH:C535611]
xref: GARD:0000579 {source="MONDO:equivalentTo"}
xref: MESH:C535611 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0021836", source="MONDOLEX:0022406"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930949
property_value: exactMatch http://identifiers.org/mesh/C535611
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome xsd:anyURI {source="GARD:0000579"}

[Term]
id: MONDO:0021838
name: Al Gazali Khidr Prem Chandran syndrome
def: "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature." [https://orcid.org/0000-0001-5208-3432, PMID:8281276]
subset: gard_rare
subset: n_of_one
synonym: "cherubism, optic atrophy and short stature" RELATED [GARD:0000586, MESH:C535616]
xref: GARD:0000586 {source="MONDO:equivalentTo"}
xref: MESH:C535616 {source="MONDO:equivalentTo"}
xref: UMLS:C2930951 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000586", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0007315 {source="MESH:C535616"} ! cherubism
is_a: MONDO:0018609 ! syndromic hereditary optic neuropathy
is_a: MONDO:0020250 ! autosomal dominant optic atrophy
property_value: exactMatch http://identifiers.org/mesh/C535616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930951
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome xsd:anyURI {source="GARD:0000586"}

[Term]
id: MONDO:0021839
name: spirochaetales infections
def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145]
subset: gard_rare
synonym: "INFECT SPIROCHAETALES" RELATED [MSH:D013145]
synonym: "INFECT SPIROCHETE" RELATED [MSH:D013145]
synonym: "Infection, Spirochaetales" RELATED [MESH:D013145, MSH:D013145]
synonym: "Infection, Spirochete" RELATED [MESH:D013145, MSH:D013145]
synonym: "Infections, Spirochaetales" RELATED [MESH:D013145, MSH:D013145]
synonym: "Infections, Spirochete" RELATED [MESH:D013145, MSH:D013145]
synonym: "SPIROCHAETALES INFECT" RELATED [MSH:D013145]
synonym: "Spirochaetales Infection" RELATED [MESH:D013145, MSH:D013145]
synonym: "Spirochaetales Infections" RELATED [GARD:0007682, MSH:D013145]
synonym: "Spirochetal infection" RELATED [UMLS:C0037974]
synonym: "SPIROCHETE INFECT" RELATED [MSH:D013145]
synonym: "Spirochete Infection" RELATED [MESH:D013145, MSH:D013145]
synonym: "Spirochete Infections" RELATED [MESH:D013145, MSH:D013145]
synonym: "Spirochetosis" RELATED [UMLS:C0037974]
xref: GARD:0007682 {source="MONDO:equivalentTo"}
xref: MESH:D013145 {source="MONDO:equivalentTo", source="UMLS:C0037974"}
xref: UMLS:C0037974 {source="MONDO:equivalentTo", source="GARD:0007682"}
is_a: MONDO:0005113 {source="MESH:D013145", source="UMLS:C0037974"} ! bacterial infectious disease
relationship: has_modifier MONDO:0021136 {source="GARD:0007682"} ! rare
property_value: closeMatch http://identifiers.org/snomedct/41116009
property_value: exactMatch http://identifiers.org/mesh/D013145
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037974

[Term]
id: MONDO:0021845
name: Aloi Tomasini Isaia syndrome
def: "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization." [https://orcid.org/0000-0001-5208-3432, PMID:2715453]
subset: gard_rare
subset: n_of_one
synonym: "basal cell nevus, anodontia, abnormal bone mineralization" RELATED [GARD:0000417, MESH:C537049]
synonym: "unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization" RELATED [GARD:0000417]
xref: GARD:0000417 {source="MONDO:equivalentTo"}
xref: MESH:C537049 {source="MONDO:equivalentTo"}
xref: UMLS:C2931405 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000417"}
is_a: MONDO:0008797 {source="MESH:C537049"} ! anodontia
property_value: exactMatch http://identifiers.org/mesh/C537049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931405
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome xsd:anyURI {source="GARD:0000417"}

[Term]
id: MONDO:0021849
name: alopecia macular degeneration growth retardation syndome
comment: Editor note: check relationshop to EEM
subset: gard_rare
synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125]
synonym: "alopecia, macular degeneration, and growth retardation" RELATED [MESH:C538125]
xref: GARD:0000610 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931407
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation xsd:anyURI {source="GARD:0000610"}

[Term]
id: MONDO:0021851
name: alopecia universalis onychodystrophy vitiligo
def: "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." [https://orcid.org/0000-0001-5208-3432, PMID:14043609]
subset: gard_rare
synonym: "alopecia universalis, onychodystrophy, and total vitiligo" RELATED [GARD:0000615, MESH:C537056]
xref: GARD:0000615 {source="MONDO:equivalentTo"}
xref: MESH:C537056 {source="MONDO:equivalentTo"}
xref: UMLS:C2931408 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000615"}
is_a: MONDO:0004907 {source="MESH:C537056"} ! alopecia
is_a: MONDO:0008661 {source="MESH:C537056"} ! vitiligo
property_value: exactMatch http://identifiers.org/mesh/C537056
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931408
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo xsd:anyURI {source="GARD:0000615"}

[Term]
id: MONDO:0021856
name: Alsing syndrome
def: "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." [https://orcid.org/0000-0001-5208-3432, PMID:3231430]
subset: gard_rare
synonym: "atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality" RELATED [GARD:0009213]
xref: GARD:0009213 {source="MONDO:equivalentTo"}
xref: MESH:C536588 {source="MONDO:equivalentTo"}
xref: UMLS:C2931255 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009213"}
is_a: MONDO:0001476 {source="MESH:C536588"} ! coloboma
is_a: MONDO:0005240 {source="MESH:C536588"} ! kidney disease
property_value: exactMatch http://identifiers.org/mesh/C536588
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931255
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome xsd:anyURI {source="GARD:0009213"}

[Term]
id: MONDO:0021879
name: small cell variant anaplastic large cell lymphoma
def: "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." [NCIT:C7208]
subset: gard_rare
synonym: "anaplastic small cell lymphoma" RELATED [GARD:0009477]
synonym: "small cell variant anaplastic large cell lymphoma" EXACT [NCIT:C7208]
synonym: "small cell variant of anaplastic large cell lymphoma" EXACT [GARD:0009477, MESH:C538255, PMID:21043827]
xref: GARD:0009477 {source="MONDO:equivalentTo"}
xref: MESH:C538255 {source="MONDO:equivalentTo"}
xref: NCIT:C7208 {source="MONDO:equivalentTo"}
xref: UMLS:C1335983 {source="MONDO:equivalentTo", source="NCIT:C7208", source="GARD:0009477"}
is_a: MONDO:0020325 {source="NCIT:C7208"} ! anaplastic large cell lymphoma
property_value: exactMatch http://identifiers.org/mesh/C538255
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335983
property_value: exactMatch NCIT:C7208
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma xsd:anyURI {source="GARD:0009477"}

[Term]
id: MONDO:0021895
name: temporomandibular joint dysfunction syndrome
def: "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management." [NCIT:C35066]
synonym: "Costen Syndrome" RELATED [MESH:D013706, MSH:D013706]
synonym: "Costen's complex" RELATED [UMLS:C0039496]
synonym: "Costen's Syndrome" RELATED [MESH:D013706, MSH:D013706]
synonym: "Costen's syndrome" RELATED [UMLS:C0039496]
synonym: "Costens Syndrome" RELATED [MESH:D013706, MSH:D013706]
synonym: "Joint Syndrome, Temporomandibular" RELATED [MESH:D013706, MSH:D013706]
synonym: "Mandibular dysfunction" RELATED [UMLS:C0039496]
synonym: "Myofascial pain - dysfunction syndrome of TMJ" RELATED [UMLS:C0039496]
synonym: "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint" RELATED [MESH:D013706, MSH:D013706]
synonym: "Snapping jaw" RELATED [UMLS:C0039496]
synonym: "Syndrome, Costen's" RELATED [MESH:D013706, MSH:D013706]
synonym: "Syndrome, Temporomandibular Joint" RELATED [MESH:D013706, MSH:D013706]
synonym: "Syndrome, TMJ" RELATED [MESH:D013706, MSH:D013706]
synonym: "Temporomandibular Joint Dysfunction Syndrome" RELATED [MSH:D013706, NCIT:C35066]
synonym: "temporomandibular joint dysfunction syndrome" EXACT [NCIT:C35066]
synonym: "Temporomandibular joint pain dysfunction syndrome" RELATED [UMLS:C0039496]
synonym: "Temporomandibular Joint Syndrome" RELATED [MESH:D013706, MSH:D013706]
synonym: "Temporomandibular joint syndrome" RELATED [UMLS:C0039496]
synonym: "Temporomandibular joint-pain-dysfunction syndrome" RELATED [UMLS:C0039496]
synonym: "TMJ Syndrome" RELATED [MESH:D013706, MSH:D013706]
synonym: "TMJ syndrome" RELATED [UMLS:C0039496]
synonym: "TMJPDS - Temporomandibular joint pain dysfunction syndrome" RELATED [UMLS:C0039496]
xref: MESH:D013706 {source="UMLS:C0039496", source="MONDO:equivalentTo"}
xref: NCIT:C35066 {source="UMLS:C0039496", source="MONDO:equivalentTo"}
xref: UMLS:C0039496 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C35066", source="UMLS:C0039496"} ! syndromic disease
is_a: MONDO:0005473 {source="MESH:D013706"} ! temporomandibular joint disorder
is_a: MONDO:0006862 {source="MESH:D013706", source="UMLS:C0039496"} ! myofascial pain syndrome
property_value: closeMatch http://identifiers.org/snomedct/386207004
property_value: exactMatch http://identifiers.org/mesh/D013706
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039496
property_value: exactMatch NCIT:C35066

[Term]
id: MONDO:0021896
name: anterior spinal artery stroke
subset: gard_rare
xref: GARD:0009653 {source="MONDO:equivalentTo"}
xref: MESH:C537776 {source="MONDO:equivalentTo"}
xref: UMLS:C2931608 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009653"}
is_a: MONDO:0000473 ! arterial disorder
is_a: MONDO:0020688 {source="MESH:C537776"} ! spinal cord ischemia
property_value: exactMatch http://identifiers.org/mesh/C537776
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931608
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke xsd:anyURI {source="GARD:0009653"}

[Term]
id: MONDO:0021902
name: aortopulmonary window
def: "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." [NCIT:C101050]
comment: Editor note: NCIT treats as disease but consider obsoleting in favor og HP
subset: gard_rare
synonym: "aortic-pulmonary window" RELATED [GARD:0000745]
synonym: "aorto-pulmonary window" RELATED [GARD:0000745]
synonym: "aortopulmonary septal defect" EXACT [GARD:0000745, NCIT:C101050]
synonym: "aortopulmonary window" EXACT [NCIT:C101050]
synonym: "AP window" EXACT [NCIT:C101050]
synonym: "APSD" EXACT [NCIT:C101050]
synonym: "APW" EXACT [NCIT:C101050]
xref: GARD:0000745 {source="MONDO:equivalentTo"}
xref: HP:0011604 {source="MONDO:otherHierarchy"}
xref: MESH:D001028 {source="MONDO:equivalentTo"}
xref: NCIT:C101050 {source="MONDO:equivalentTo"}
xref: SCTID:17024001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MESH:D001028/inferred", source="NCIT:C101050/inferred"} ! heart disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003516
property_value: exactMatch http://identifiers.org/mesh/D001028
property_value: exactMatch http://identifiers.org/snomedct/17024001
property_value: exactMatch NCIT:C101050
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window xsd:anyURI {source="GARD:0000745"}

[Term]
id: MONDO:0021905
name: apert-like polydactyly syndrome
subset: gard_rare
synonym: "apert like polydactyly syndrome" RELATED [GARD:0000746]
xref: GARD:0000746 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0021905"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome xsd:anyURI {source="GARD:0000746"}

[Term]
id: MONDO:0021907
name: aplasia cutis autosomal recessive
def: "Aplasia cutis with autosomal recessive inheritance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608]
subset: gard_rare
xref: GARD:0000749 {source="MONDO:equivalentTo"}
is_a: MONDO:0007145 ! aplasia cutis congenita (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive xsd:anyURI {source="GARD:0000749"}

[Term]
id: MONDO:0021908
name: aplasia cutis congenita dominant
def: "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608]
subset: gard_rare
xref: GARD:0000751 {source="MONDO:equivalentTo"}
is_a: MONDO:0007145 ! aplasia cutis congenita (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant xsd:anyURI {source="GARD:0000751"}

[Term]
id: MONDO:0021909
name: obsolete aplasia cutis congenita recessive
property_value: IAO:0000231 https://github.com/monarch-initiative/mondo/issues/141 xsd:string
is_obsolete: true
replaced_by: MONDO:0007145

[Term]
id: MONDO:0021910
name: obsolete aplasia cutis myopia
is_obsolete: true
replaced_by: MONDO:0010988

[Term]
id: MONDO:0021913
name: aquagenic pruritus
def: "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy , PUVA therapy and various medications have been tried with varying degrees of success." [GARD:0010278]
subset: gard_rare
synonym: "aquagenic pruritus" EXACT []
synonym: "water-induced itching" RELATED []
xref: GARD:0010278 {source="MONDO:equivalentTo"}
xref: ICD9:698.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:238695001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406409 {source="MEDGEN:kboom-pr98-c99", source="GARD:0010278", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease
property_value: exactMatch http://identifiers.org/snomedct/238695001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406409
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus xsd:anyURI {source="GARD:0010278"}

[Term]
id: MONDO:0021915
name: arakawa syndrome 2
def: "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." [NCIT:C99081]
synonym: "Arakawa syndrome II" EXACT [NCIT:C99081]
synonym: "Arakawa's syndrome 2" EXACT [MESH:C537426, NCIT:C99081]
synonym: "Arakawa's syndrome II" EXACT [NCIT:C99081]
synonym: "homocystinuria-megaloblastic Anemia, cblG complementation type" EXACT [NCIT:C99081]
synonym: "methionine synthase deficiency" EXACT [NCIT:C99081]
synonym: "methylcobalamin deficiency, cblG type" EXACT [NCIT:C99081]
synonym: "N5-methylhomocysteine transferase deficiency" RELATED [MESH:C537426]
synonym: "tetrahydrofolate methyltransferase deficiency" EXACT [NCIT:C99081]
synonym: "tetrahydrofolate-methyltransferase deficiency syndrome" RELATED [MESH:C537426]
xref: MESH:C537426 {source="MONDO:equivalentTo"}
xref: NCIT:C99081 {source="MONDO:equivalentTo"}
xref: SCTID:89579000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268611 {source="MONDO:equivalentTo", source="NCIT:C99081"}
is_a: MONDO:0002254 {source="MONDOLEX:0021915", source="NCIT:C99081"} ! syndromic disease
is_a: MONDO:0004736 {source="MESH:C537426"} ! inherited amino acid metabolic disorder
property_value: exactMatch http://identifiers.org/mesh/C537426
property_value: exactMatch http://identifiers.org/snomedct/89579000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268611
property_value: exactMatch NCIT:C99081

[Term]
id: MONDO:0021918
name: arena syndrome
subset: gard_rare
synonym: "spastic paraplegia with iron deposits in basal ganglia" RELATED [GARD:0009223, MESH:C537428]
xref: GARD:0009223 {source="MONDO:equivalentTo"}
xref: MESH:C537428 {source="MONDO:equivalentTo"}
xref: UMLS:C2931491 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009223"}
is_a: MONDO:0002254 {source="MONDOLEX:0021918"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537428
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931491
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome xsd:anyURI {source="GARD:0009223"}

[Term]
id: MONDO:0021921
name: Arnold stickler bourne syndrome
subset: gard_rare
synonym: "corneal crystals myopathy and nephropathy" RELATED [MESH:C537431]
synonym: "corneal crystals myopathy and neuropathy" RELATED [GARD:0000366]
xref: GARD:0000366 {source="MONDO:equivalentTo"}
xref: MESH:C537431 {source="MONDO:equivalentTo"}
xref: UMLS:C2931492 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000366", source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="MESH:C537431"} ! corneal disease
is_a: MONDO:0002254 {source="MONDOLEX:0021921"} ! syndromic disease
is_a: MONDO:0004323 {source="MESH:C537431"} ! muscular atrophy
is_a: MONDO:0005240 {source="MESH:C537431"} ! kidney disease
property_value: exactMatch http://identifiers.org/mesh/C537431
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931492
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome xsd:anyURI {source="GARD:0000366"}

[Term]
id: MONDO:0021923
name: Arroyo Garcia Cimadevilla syndrome
def: "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum)." [https://orcid.org/0000-0001-5208-3432, PMID:1352427]
subset: gard_rare
subset: n_of_one
synonym: "bilateral anophthalmia, esophageal atresia, and right cryptorchidism" RELATED [GARD:0000771, MESH:C537439]
xref: GARD:0000771 {source="MONDO:equivalentTo"}
xref: MESH:C537439 {source="MONDO:equivalentTo"}
xref: UMLS:C2931494 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000771", source="MONDO:equivalentTo"}
is_a: MONDO:0001044 {source="MESH:C537439"} ! esophageal atresia (disease)
is_a: MONDO:0009047 {source="MESH:C537439"} ! cryptorchidism (disease)
property_value: exactMatch http://identifiers.org/mesh/C537439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931494
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome xsd:anyURI {source="GARD:0000771"}

[Term]
id: MONDO:0021925
name: tracheobronchitis
def: "Inflammation of the tracheobronchial tree." [NCIT:C122784]
synonym: "Tracheobronchitis" RELATED [NCIT:C122784, SNOMEDCT_US:13617004]
synonym: "tracheobronchitis" EXACT [NCIT:C122784]
xref: NCIT:C122784 {source="MONDO:equivalentTo", source="UMLS:C0040586"}
xref: SCTID:13617004 {source="MONDO:equivalentTo", source="UMLS:C0040586"}
xref: UMLS:C0040586 {source="MONDO:equivalentTo"}
is_a: MONDO:0000270 ! lower respiratory tract disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/13617004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040586
property_value: exactMatch NCIT:C122784

[Term]
id: MONDO:0021927
name: arthrogryposis epileptic seizures migrational brain disorder
subset: gard_rare
synonym: "arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder" RELATED [GARD:0000781, MESH:C537442]
xref: GARD:0000781 {source="MONDO:equivalentTo"}
xref: MESH:C537442 {source="MONDO:equivalentTo"}
xref: UMLS:C2931495 {source="GARD:0000781", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="MESH:C537442"} ! epilepsy
is_a: MONDO:0008779 {source="MESH:C537442"} ! arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C537442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931495
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder xsd:anyURI {source="GARD:0000781"}

[Term]
id: MONDO:0021929
name: traumatic myositis ossificans
def: "Myositis Ossificans resulting from trauma." [NCIT:C35081]
synonym: "Myositis ossificans circumscripta" RELATED [UMLS:C0040798]
synonym: "myositis ossificans circumscripta" RELATED []
synonym: "Myositis ossificans traumatica" RELATED [UMLS:C0040798]
synonym: "myositis ossificans traumatica" RELATED []
synonym: "Traumatic Myositis Ossificans" RELATED [NCIT:C35081]
synonym: "Traumatic myositis ossificans" RELATED [UMLS:C0040798]
synonym: "traumatic myositis ossificans" EXACT [NCIT:C35081]
xref: ICD9:728.12 {source="linkedlife"}
xref: NCIT:C35081 {source="UMLS:C0040798", source="MONDO:equivalentTo"}
xref: SCTID:70917000 {source="UMLS:C0040798", source="MONDO:equivalentTo"}
xref: UMLS:C0040798 {source="MONDO:equivalentTo"}
is_a: MONDO:0003964 {source="NCIT:C35081", source="UMLS:C0040798"} ! myositis ossificans
property_value: exactMatch http://identifiers.org/snomedct/70917000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040798
property_value: exactMatch NCIT:C35081

[Term]
id: MONDO:0021932
name: infection by Trypanosoma gambiense
def: "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." [NCIT:C35084]
subset: gard_rare
synonym: "Chronic sleeping sickness" RELATED [UMLS:C0041232]
synonym: "chronic sleeping sickness" RELATED []
synonym: "Gambian sleeping sickness" RELATED [GARD:0008540, UMLS:C0041232]
synonym: "gambian sleeping sickness" RELATED []
synonym: "Gambian Trypanosomiasis" RELATED [NCIT:C35084]
synonym: "Gambian trypanosomiasis" RELATED [UMLS:C0041232]
synonym: "gambian trypanosomiasis" EXACT [NCIT:C35084]
synonym: "gambian trypanosomiasis" RELATED []
synonym: "Gambiense trypanosomiasis infection" RELATED [UMLS:C0041232]
synonym: "gambiense trypanosomiasis infection" RELATED []
synonym: "Infection by Trypanosoma gambiense" RELATED [UMLS:C0041232]
synonym: "infection by trypanosoma gambiense" EXACT []
synonym: "Infection caused by Trypanosoma gambiense" RELATED [UMLS:C0041232]
synonym: "infection caused by trypanosoma gambiense" RELATED []
xref: GARD:0008540 {source="MONDO:equivalentTo"}
xref: ICD9:086.3 {source="linkedlife"}
xref: NCIT:C35084 {source="MONDO:equivalentTo", source="UMLS:C0041232"}
xref: SCTID:75809006 {source="MONDO:equivalentTo", source="UMLS:C0041232"}
xref: UMLS:C0041232 {source="MONDO:equivalentTo", source="GARD:0008540"}
is_a: MONDO:0005459 ! human African trypanosomiasis
is_a: MONDO:0021201 ! skin infection
is_a: MONDO:0024610 ! parasitic skin disease
property_value: exactMatch http://identifiers.org/snomedct/75809006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041232
property_value: exactMatch NCIT:C35084

[Term]
id: MONDO:0021935
name: aspergillus niger infection
def: "A infectious disease involving the Aspergillus niger." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare
synonym: "Aspergillus niger infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Aspergillus niger infection, pulmonary" RELATED [GARD:0009716, MESH:C535390]
synonym: "infections, Aspergillus niger" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: GARD:0009716 {source="MONDO:equivalentTo"}
xref: MESH:C535390 {source="MONDO:equivalentTo"}
is_a: MONDO:0005657 {source="MESH:C535390", source="MONDO:Entailed", source="MONDO:Redundant"} ! aspergillosis
property_value: exactMatch http://identifiers.org/mesh/C535390
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection xsd:anyURI {source="GARD:0009716"}

[Term]
id: MONDO:0021937
name: obsolete Asrar Facharzt Haque syndrome
is_obsolete: true
replaced_by: MONDO:0011273

[Term]
id: MONDO:0021941
name: infection by Trypanosoma rhodesiense
def: "An infection with Trypanosoma brucei rhodesiense." [NCIT:C35085]
synonym: "acute sleeping sickness" RELATED []
synonym: "infection by trypanosoma rhodesiense" EXACT []
synonym: "infection caused by trypanosoma rhodesiense" RELATED []
synonym: "rhodesian sleeping sickness" RELATED []
synonym: "rhodesian trypanosomiasis" EXACT [NCIT:C35085]
synonym: "rhodesian trypanosomiasis" RELATED []
xref: ICD9:086.4 {source="linkedlife"}
xref: NCIT:C35085 {source="MONDO:equivalentTo"}
xref: SCTID:42872003 {source="MONDO:equivalentTo"}
xref: UMLS:C0041233 {source="MONDO:equivalentTo"}
is_a: MONDO:0005459 ! human African trypanosomiasis
property_value: exactMatch http://identifiers.org/snomedct/42872003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041233
property_value: exactMatch NCIT:C35085

[Term]
id: MONDO:0021943
name: tuberculoma
def: "A tumor-like mass resulting from the enlargement of a tuberculous lesion." [MESH:D014375]
synonym: "Tuberculoma" RELATED [MSH:D014375, SNOMEDCT_US:15202009]
synonym: "Tuberculomas" RELATED [MESH:D014375, MSH:D014375]
xref: MESH:D014375 {source="MONDO:equivalentTo", source="UMLS:C0041295"}
xref: SCTID:15202009 {source="MONDO:equivalentTo", source="UMLS:C0041295"}
xref: UMLS:C0041295 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="MESH:D014375", source="UMLS:C0041295"} ! tuberculosis
property_value: exactMatch http://identifiers.org/mesh/D014375
property_value: exactMatch http://identifiers.org/snomedct/15202009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041295

[Term]
id: MONDO:0021944
name: auditory neuropathy
def: "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." [NCIT:C116364]
comment: Editor note: OMIMPS seems to refer to a more restricted concept
subset: gard_rare
synonym: "ANSD" EXACT [NCIT:C116364]
synonym: "auditory dys-synchrony" EXACT [GARD:0009274, MESH:C538268, NCIT:C116364]
synonym: "auditory neuropathy" EXACT [NCIT:C116364]
synonym: "auditory neuropathy spectrum disorder" EXACT [NCIT:C116364]
synonym: "familial auditory neuropathy" NARROW [MESH:C538268]
synonym: "progressive auditory neuropathy" NARROW [MESH:C538268]
xref: GARD:0009274 {source="MONDO:equivalentTo"}
xref: MESH:C538268 {source="MONDO:equivalentTo"}
xref: NCIT:C116364 {source="MONDO:equivalentTo"}
xref: OMIMPS:609129 {source="MONDO:equivalentTo"}
xref: SCTID:443805006 {source="MONDO:equivalentTo"}
xref: UMLS:C1852271 {source="NCIT:C116364", source="MEDGEN:kboom-pr99-c99", source="GARD:0009274", source="MONDO:equivalentTo"}
xref: UMLS:C2732267 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="MESH:C538268/inferred"} ! hearing loss disorder
property_value: exactMatch http://identifiers.org/mesh/C538268
property_value: exactMatch http://identifiers.org/snomedct/443805006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1852271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2732267
property_value: exactMatch NCIT:C116364
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy xsd:anyURI {source="GARD:0009274"}

[Term]
id: MONDO:0021945
name: hearing disorder
def: "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear." [NCIT:C3078]
synonym: "auditory alteration" RELATED []
synonym: "disorder of hearing" RELATED []
synonym: "hearing disorder" EXACT [NCIT:C3078]
xref: MESH:D006311 {source="MONDO:equivalentTo"}
xref: NCIT:C3078 {source="MONDO:equivalentTo"}
xref: SCTID:128540005 {source="MONDO:equivalentTo"}
xref: UMLS:C0260662 {source="MONDO:equivalentTo", source="NCIT:C3078"}
is_a: MONDO:0002409 ! auditory system disease
is_a: MONDO:0024417 ! perceptual disorders
property_value: exactMatch http://identifiers.org/mesh/D006311
property_value: exactMatch http://identifiers.org/snomedct/128540005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0260662
property_value: exactMatch NCIT:C3078

[Term]
id: MONDO:0021948
name: cutaneous tuberculosis
synonym: "Cutaneous Tuberculoses" RELATED [MSH:D014382]
synonym: "Cutaneous Tuberculosis" RELATED [MSH:D014382]
synonym: "Cutaneous tuberculosis" RELATED [UMLS:C0041309]
synonym: "cutaneous tuberculosis" RELATED []
synonym: "Skin Tuberculoses" RELATED [MSH:D014382]
synonym: "Skin Tuberculosis" RELATED [MSH:D014382]
synonym: "Tuberculoderma" RELATED [UMLS:C0041309]
synonym: "tuberculoderma" RELATED []
synonym: "Tuberculoses, Cutaneous" RELATED [MSH:D014382]
synonym: "Tuberculoses, Skin" RELATED [MSH:D014382]
synonym: "Tuberculosis cutis" RELATED [UMLS:C0041309]
synonym: "tuberculosis cutis" RELATED []
synonym: "Tuberculosis of skin" RELATED [UMLS:C0041309]
synonym: "tuberculosis of skin" EXACT []
synonym: "Tuberculosis, Cutaneous" RELATED [MSH:D014382]
synonym: "Tuberculosis, Skin" RELATED [MSH:D014382]
xref: EFO:1001443 {source="MONDO:equivalentTo"}
xref: SCTID:66986005 {source="MONDO:equivalentTo", source="UMLS:C0041309"}
xref: UMLS:C0041309 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 ! tuberculosis
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: closeMatch http://identifiers.org/mesh/D014382
property_value: exactMatch http://identifiers.org/snomedct/66986005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041309

[Term]
id: MONDO:0021950
name: autoimmune oophoritis
def: "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period ( amenorrhea ) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus , pernicious anemia , myasthenia gravis and other autoimmune conditions . The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies , a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." [GARD:0009461]
subset: gard_rare
xref: GARD:0009461 {source="MONDO:equivalentTo"}
xref: MESH:C538274 {source="MONDO:equivalentTo"}
xref: UMLS:C0878654 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009461", source="MONDO:equivalentTo"}
is_a: MONDO:0000569 ! autoimmune disease of endocrine system
is_a: MONDO:0000601 ! autoimmune disease of urogenital tract
is_a: MONDO:0006877 {source="MESH:C538274", source="MONDO:Entailed", source="MONDO:Redundant"} ! oophoritis
relationship: disease_has_feature MONDO:0005387 ! primary ovarian failure
property_value: exactMatch http://identifiers.org/mesh/C538274
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0878654
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis xsd:anyURI {source="GARD:0009461"}

[Term]
id: MONDO:0021952
name: autoimmune progesterone dermatitis
def: "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle . The rash generally appears during the second half of the cycle when levels of the hormone, progesterone , begin to rise and it subsides shortly after menstruation . Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction ( autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids , hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." [GARD:0009139]
subset: gard_rare
synonym: "APD" RELATED [GARD:0009139]
synonym: "autoimmune progesterone dermatitis" EXACT []
synonym: "autoimmune progesterone dermatitis/urticaria" EXACT []
synonym: "autoimmune progesterone urticaria" RELATED []
synonym: "progesterone dermatitis" RELATED []
xref: GARD:0009139 {source="MONDO:equivalentTo"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535299 {source="MONDO:equivalentTo"}
xref: SCTID:400009001 {source="MONDO:equivalentTo"}
xref: UMLS:C1260879 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009139"}
is_a: MONDO:0002406 ! dermatitis
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
property_value: exactMatch http://identifiers.org/mesh/C535299
property_value: exactMatch http://identifiers.org/snomedct/400009001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260879
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis xsd:anyURI {source="GARD:0009139"}

[Term]
id: MONDO:0021953
name: tuberculous fibrosis of lung
def: "Scarring of the lung parenchyma caused by pulmonary tuberculosis." [NCIT:C35088]
synonym: "Tuberculous Fibrosis of Lung" RELATED [NCIT:C35088]
synonym: "Tuberculous fibrosis of lung" RELATED [UMLS:C0041336]
synonym: "tuberculous fibrosis of lung" EXACT [NCIT:C35088]
xref: ICD9:011.40 {source="linkedlife"}
xref: ICD9:011.41 {source="linkedlife"}
xref: ICD9:011.42 {source="linkedlife"}
xref: ICD9:011.43 {source="linkedlife"}
xref: ICD9:011.44 {source="linkedlife"}
xref: ICD9:011.46 {source="linkedlife"}
xref: NCIT:C35088 {source="UMLS:C0041336", source="MONDO:equivalentTo"}
xref: SCTID:90117007 {source="UMLS:C0041336", source="MONDO:equivalentTo"}
xref: UMLS:C0041336 {source="MONDO:equivalentTo"}
is_a: MONDO:0002771 ! pulmonary fibrosis
is_a: MONDO:0006052 {source="NCIT:C35088", source="UMLS:C0041336"} ! pulmonary tuberculosis
is_a: MONDO:0024355 ! respiratory tract infectious disease
intersection_of: MONDO:0002771 ! pulmonary fibrosis
intersection_of: MONDO:0006052 ! pulmonary tuberculosis
property_value: exactMatch http://identifiers.org/snomedct/90117007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041336
property_value: exactMatch NCIT:C35088

[Term]
id: MONDO:0021957
name: autosomal recessive nonsyndromic congenital nuclear cataract
subset: gard_rare
synonym: "congenital nuclear cataract, autosomal recessive" RELATED [GARD:0009492, MESH:C537298]
xref: GARD:0009492 {source="MONDO:equivalentTo"}
xref: MESH:C537298 {source="MONDO:equivalentTo"}
xref: UMLS:C2931470 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009492", source="MONDO:equivalentTo"}
is_a: MONDO:0020376 ! early-onset nuclear cataract
property_value: exactMatch http://identifiers.org/mesh/C537298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931470
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract xsd:anyURI {source="GARD:0009492"}

[Term]
id: MONDO:0021960
name: ureteritis
def: "An acute or chronic inflammatory process affecting the ureter." [NCIT:C78666]
synonym: "Inflammation of ureter" RELATED [UMLS:C0041959]
synonym: "Ureteritis" RELATED [NCIT:C78666, SNOMEDCT_US:111405003]
synonym: "ureteritis" EXACT [NCIT:C78666]
xref: NCIT:C78666 {source="MONDO:equivalentTo", source="UMLS:C0041959"}
xref: SCTID:111405003 {source="MONDO:equivalentTo", source="UMLS:C0041959"}
xref: UMLS:C0041959 {source="MONDO:equivalentTo"}
is_a: MONDO:0001926 ! ureteral disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/111405003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041959
property_value: exactMatch NCIT:C78666

[Term]
id: MONDO:0021962
name: baetz-greenwalt syndrome
subset: gard_rare
synonym: "hypoplastic right-sided heart complex" RELATED [GARD:0009216, MESH:C537795]
xref: GARD:0009216 {source="MONDO:equivalentTo"}
xref: MESH:C537795 {source="MONDO:equivalentTo"}
xref: UMLS:C2931615 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009216"}
is_a: MONDO:0002254 {source="MONDOLEX:0021962"} ! syndromic disease
relationship: disease_has_feature MONDO:0016064 {source="MESH:C537795"} ! cleft palate
property_value: exactMatch http://identifiers.org/mesh/C537795
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931615
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome xsd:anyURI {source="GARD:0009216"}

[Term]
id: MONDO:0021964
name: bagatelle Cassidy syndrome
subset: gard_rare
synonym: "macrocephaly short limbs deafness" RELATED [GARD:0000398, MESH:C537796]
synonym: "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" RELATED [GARD:0000398, MESH:C537796]
xref: GARD:0000398 {source="MONDO:equivalentTo"}
xref: MESH:C537796 {source="MONDO:equivalentTo"}
xref: UMLS:C2931616 {source="GARD:0000398", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0021964"} ! syndromic disease
is_a: MONDO:0005287 {source="MESH:C537796"} ! developmental disability
is_a: MONDO:0007778 {source="MESH:C537796"} ! hypertelorism (disease)
is_a: MONDO:0016608 {source="MESH:C537796"} ! megalencephaly (disease)
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/C537796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931616
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome xsd:anyURI {source="GARD:0000398"}

[Term]
id: MONDO:0021966
name: baker Vinters syndrome
def: "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles." [https://orcid.org/0000-0001-5208-3432, PMID:6730919]
subset: gard_rare
subset: n_of_one
synonym: "hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" RELATED [GARD:0000808, MESH:C537899]
xref: GARD:0000808 {source="MONDO:equivalentTo"}
xref: MESH:C537899 {source="MONDO:equivalentTo"}
xref: UMLS:C2931659 {source="GARD:0000808", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001150 {source="MESH:C537899"} ! hydrocephalus
is_a: MONDO:0002254 {source="MONDOLEX:0021966"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931659
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome xsd:anyURI {source="GARD:0000808"}

[Term]
id: MONDO:0021969
name: Banti syndrome
def: "A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages." [https://orcid.org/0000-0001-5208-3432, PMID:18731340]
subset: gard_rare
synonym: "Banti's disease" RELATED [GARD:0005888, MESH:C537903]
synonym: "Banti's syndrome" RELATED [GARD:0005888]
synonym: "idiopathic congestive splenomegaly" RELATED [GARD:0005888, MESH:C537903]
synonym: "idiopathic portal hypertension" RELATED [GARD:0005888, MESH:C537903]
xref: GARD:0005888 {source="MONDO:equivalentTo"}
xref: MESH:C537903 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0021969"} ! syndromic disease
relationship: disease_has_feature MONDO:0001529 {source="MESH:C537903"} ! pancytopenia
relationship: disease_has_feature MONDO:0005080 {source="MESH:C537903"} ! portal hypertension
relationship: disease_has_feature MONDO:0005155 {source="MESH:C537903"} ! cirrhosis of liver
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0154307
property_value: exactMatch http://identifiers.org/mesh/C537903
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome xsd:anyURI {source="GARD:0005888"}

[Term]
id: MONDO:0021971
name: obsolete Baraitser Rodeck garner syndrome
is_obsolete: true
replaced_by: MONDO:0009041

[Term]
id: MONDO:0021977
name: basaloid follicular hamartoma
def: "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." [NCIT:C4749]
subset: gard_rare
synonym: "basal cell nevus with comedones" EXACT []
synonym: "basaloid follicular hamartoma" EXACT []
xref: GARD:0002354 {source="MONDO:equivalentTo"}
xref: ICD9:706.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4749 {source="MONDO:equivalentTo"}
xref: SCTID:254705003 {source="MONDO:equivalentTo"}
xref: UMLS:C0474964 {source="GARD:0002354", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006499 {source="NCIT:C4749/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hamartoma (disease)
property_value: exactMatch http://identifiers.org/snomedct/254705003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474964
property_value: exactMatch NCIT:C4749
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma xsd:anyURI {source="GARD:0002354"}

[Term]
id: MONDO:0021979
name: Basaran Yilmaz syndrome
def: "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." [https://orcid.org/0000-0001-5208-3432, PMID:7577599]
subset: gard_rare
synonym: "keratoderma, hypotrichosis and leukonychia totalis" RELATED [GARD:0000833, MESH:C537660]
xref: GARD:0000833 {source="MONDO:equivalentTo"}
xref: MESH:C537660 {source="MONDO:equivalentTo"}
xref: UMLS:C2931577 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000833"}
is_a: MONDO:0002884 {source="MESH:C537660"} ! nail disease
is_a: MONDO:0003037 {source="MESH:C537660"} ! hypotrichosis
property_value: exactMatch http://identifiers.org/mesh/C537660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931577
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome xsd:anyURI {source="GARD:0000833"}

[Term]
id: MONDO:0021994
name: Berk-Tabatznik syndrome
subset: gard_rare
synonym: "Berk Tabatznik syndrome" RELATED [MESH:C535432]
synonym: "cleft nare, brachydactyly, short stature dwarfism" RELATED [GARD:0005109]
synonym: "cleft nare, brachydactyly, short stature-dwarfism" RELATED [MESH:C535432]
synonym: "congenital optic atrophy and brachytelephalangy" RELATED [GARD:0005109, MESH:C535432]
synonym: "kyphosis brachyphalangy optic atrophy" RELATED [GARD:0005109, MESH:C535432]
synonym: "short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges" RELATED [GARD:0005109]
xref: GARD:0005109 {source="MONDO:equivalentTo"}
xref: MESH:C535432 {source="MONDO:equivalentTo"}
xref: UMLS:C2930899 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0005109"}
is_a: MONDO:0021004 {source="MESH:C535432"} ! brachydactyly (disease)
property_value: closeMatch Orphanet:1559
property_value: exactMatch http://identifiers.org/mesh/C535432
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930899
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome xsd:anyURI {source="GARD:0005109"}

[Term]
id: MONDO:0022007
name: water intoxication
def: "A condition resulting from the excessive retention of water with sodium depletion." [MESH:D014869]
synonym: "WATER INTOX" RELATED [MSH:D014869]
synonym: "Water Intoxication" RELATED [MSH:D014869]
synonym: "Water intoxication" RELATED [UMLS:C0043049]
synonym: "Water intoxication syndrome" RELATED [UMLS:C0043049]
synonym: "water intoxication syndrome" EXACT []
xref: MESH:D014869 {source="MONDO:equivalentTo", source="UMLS:C0043049"}
xref: SCTID:71785001 {source="MONDO:equivalentTo", source="UMLS:C0043049"}
xref: UMLS:C0043049 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D014869"} ! poisoning
property_value: exactMatch http://identifiers.org/mesh/D014869
property_value: exactMatch http://identifiers.org/snomedct/71785001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043049

[Term]
id: MONDO:0022011
name: bobble-head doll syndrome
def: "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." [GARD:0009731]
subset: gard_rare
synonym: "BHDS" RELATED [GARD:0009731]
synonym: "bobble head doll syndrome" RELATED [GARD:0009731, MESH:C536241]
xref: GARD:0009731 {source="MONDO:equivalentTo"}
xref: MESH:C536241 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022011"} ! syndromic disease
relationship: disease_has_feature MONDO:0008813 {source="MESH:C536241"} ! arachnoid cyst
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931137
property_value: exactMatch http://identifiers.org/mesh/C536241
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome xsd:anyURI {source="GARD:0009731"}

[Term]
id: MONDO:0022013
name: Boerhaave syndrome
def: "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." [https://orcid.org/0000-0001-5208-3432, PMID:27982294]
subset: gard_rare
synonym: "Boerhaave syndrome" EXACT []
synonym: "Boerhaave's syndrome" RELATED [GARD:0009261, MESH:C536571]
synonym: "boerhaave's syndrome" RELATED []
synonym: "Boerhave syndrome" RELATED [GARD:0009261, MESH:C536571]
synonym: "spontaneous esophageal perforation" RELATED []
synonym: "spontaneous perforation of esophagus" RELATED []
synonym: "spontaneous perforation of the esophagus" RELATED [GARD:0009261]
synonym: "spontaneous rupture of esophagus" EXACT []
synonym: "spontaneous rupture of the esophagus" RELATED [GARD:0009261]
xref: GARD:0009261 {source="MONDO:equivalentTo"}
xref: MESH:C536571 {source="MONDO:equivalentTo"}
xref: SCTID:19995004 {source="MONDO:equivalentTo"}
xref: UMLS:C0238115 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009261", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022013"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536571
property_value: exactMatch http://identifiers.org/snomedct/19995004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238115
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome xsd:anyURI {source="GARD:0009261"}

[Term]
id: MONDO:0022018
name: Borrone di Rocco Crovato syndrome
subset: gard_rare
synonym: "Borrone dermatocardioskeletal syndrome" RELATED [GARD:0000939, MESH:C536577]
xref: GARD:0000939 {source="MONDO:equivalentTo"}
xref: MESH:C536577 {source="MONDO:equivalentTo"}
xref: UMLS:C1859406 {source="GARD:0000939", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022018"} ! syndromic disease
is_a: MONDO:0005093 {source="MESH:C536577"} ! skin disease
is_a: MONDO:0005381 {source="MESH:C536577", source="MONDO:Redundant"} ! bone disease
is_a: MONDO:0006816 {source="MESH:C536577"} ! arthropathy
property_value: closeMatch http://identifiers.org/omim/211170
property_value: exactMatch http://identifiers.org/mesh/C536577
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859406
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome xsd:anyURI {source="GARD:0000939"}

[Term]
id: MONDO:0022020
name: Boudhina Yedes Khiari syndrome
def: "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" [GARD:0000945]
subset: gard_rare
xref: GARD:0000945 {source="MONDO:equivalentTo"}
xref: MESH:C537939 {source="MONDO:equivalentTo"}
xref: UMLS:C2931668 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000945"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0024255 ! genetic skin disease
is_a: MONDO:0043005 {source="https://orcid.org/0000-0001-8486-0558"} ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537939"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537939
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931668
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome xsd:anyURI {source="GARD:0000945"}

[Term]
id: MONDO:0022022
name: bowenoid papulosis
def: "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported." [NCIT:C8374]
subset: gard_rare
synonym: "Bowenoid papulosis" EXACT [NCIT:C8374]
synonym: "bowenoid papulosis" EXACT []
synonym: "BP" RELATED [GARD:0005951]
xref: GARD:0005951 {source="MONDO:equivalentTo"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C8374 {source="MONDO:equivalentTo"}
xref: SCTID:402913004 {source="MONDO:equivalentTo"}
xref: UMLS:C0334106 {source="GARD:0005951", source="NCIT:C8374", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017341 ! virus associated tumor
relationship: disease_arises_from_feature MONDO:0005161 {source="NCIT:C8374"} ! human papilloma virus infection
property_value: exactMatch http://identifiers.org/snomedct/402913004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334106
property_value: exactMatch NCIT:C8374
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis xsd:anyURI {source="GARD:0005951"}

[Term]
id: MONDO:0022025
name: boylan dew greco syndrome
subset: gard_rare
synonym: "congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" RELATED [GARD:0000954, MESH:C537083]
xref: GARD:0000954 {source="MONDO:equivalentTo"}
xref: MESH:C537083 {source="MONDO:equivalentTo"}
xref: UMLS:C2931419 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000954"}
is_a: MONDO:0002562 {source="MESH:C537083"} ! demyelinating disease
is_a: MONDO:0008779 {source="MESH:C537083"} ! arthrogryposis
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: exactMatch http://identifiers.org/mesh/C537083
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931419
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome xsd:anyURI {source="GARD:0000954"}

[Term]
id: MONDO:0022034
name: lentivirus infection
def: "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." [MESH:D016180]
synonym: "Disease caused by Lentivirus" RELATED [UMLS:C0079680]
synonym: "Disease due to Lentivirus" RELATED [UMLS:C0079680]
synonym: "Infection, Lentivirus" RELATED [MESH:D016180, MSH:D016180]
synonym: "Infections, Lentivirus" RELATED [MESH:D016180, MSH:D016180]
synonym: "Lentivirus Infection" RELATED [MESH:D016180, MSH:D016180]
synonym: "Lentivirus Infections" RELATED [MSH:D016180]
xref: EFO:1001357 {source="MONDO:equivalentTo"}
xref: MESH:D016180 {source="UMLS:C0079680", source="MONDO:equivalentTo"}
xref: UMLS:C0079680 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
relationship: excluded_subClassOf MONDO:0006485 {source="MESH:D016180"} ! uterine carcinosarcoma
property_value: closeMatch http://identifiers.org/snomedct/24907000
property_value: exactMatch http://identifiers.org/mesh/D016180
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079680

[Term]
id: MONDO:0022037
name: large-cell immunoblastic lymphoma
def: "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." [MESH:D016400]
subset: gard_rare
synonym: "Diffuse Immunoblastic Lymphosarcoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Diffuse Immunoblastic Lymphosarcomas" RELATED [MESH:D016400, MSH:D016400]
synonym: "Diffuse non-Hodgkin lymphoma, immunoblastic" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's lymphoma, immunoblastic" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)" RELATED [UMLS:C0079746]
synonym: "Immunoblastic Large Cell Lymphoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "IMMUNOBLASTIC LARGE LYMPHOMA" RELATED [MSH:D016400]
synonym: "Immunoblastic Large-Cell Lymphoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Large-Cell Lymphomas" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Lymphoma" RELATED [NCIT:C3461]
synonym: "Immunoblastic Lymphoma, Large-Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Lymphomas, Large-Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Lymphosarcoma, Diffuse" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Lymphosarcomas, Diffuse" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic malignant lymphoma - large cell" RELATED [UMLS:C0079746]
synonym: "Immunoblastic Sarcoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastic Sarcomas" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Immunoblastomas" RELATED [MESH:D016400, MSH:D016400]
synonym: "Large Cell Immunoblastic Lymphoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Large cell immunoblastic lymphoma" RELATED [GARD:0008219]
synonym: "LARGE IMMUNOBLASTIC LYMPHOMA" RELATED [MSH:D016400]
synonym: "Large-Cell Immunoblastic Lymphoma" RELATED [MESH:D016400, MSH:D016400]
synonym: "Large-Cell Immunoblastic Lymphomas" RELATED [MESH:D016400, MSH:D016400]
synonym: "Large-Cell Lymphoma, Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Large-Cell Lymphomas, Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "LYMPHOMA IMMUNOBLASTIC LARGE" RELATED [MSH:D016400]
synonym: "LYMPHOMA LARGE IMMUNOBLASTIC" RELATED [MSH:D016400]
synonym: "Lymphoma, Immunoblastic Large-Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphoma, immunoblastic, high grade" RELATED [UMLS:C0079746]
synonym: "Lymphoma, Immunoblastic, Large Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphoma, Immunoblastic, Large-Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphoma, Large Cell, Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphoma, Large-Cell Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphoma, Large-Cell, Immunoblastic" RELATED [MSH:D016400]
synonym: "Lymphomas, Immunoblastic Large-Cell" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphomas, Large-Cell Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphosarcoma, Diffuse Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Lymphosarcomas, Diffuse Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Malignant lymphoma - immunoblastic" RELATED [UMLS:C0079746]
synonym: "Sarcoma, Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
synonym: "Sarcomas, Immunoblastic" RELATED [MESH:D016400, MSH:D016400]
xref: GARD:0008219 {source="MONDO:equivalentTo"}
xref: MESH:D016400 {source="MONDO:equivalentTo", source="UMLS:C0079746"}
xref: UMLS:C0079746 {source="GARD:0008219", source="MONDO:equivalentTo"}
is_a: MONDO:0018908 {source="MESH:D016400", source="UMLS:C0079746"} ! non-Hodgkin lymphoma
property_value: closeMatch http://identifiers.org/snomedct/109966003
property_value: closeMatch NCIT:C3461
property_value: exactMatch http://identifiers.org/mesh/D016400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079746

[Term]
id: MONDO:0022055
name: Calabro syndrome
subset: gard_rare
synonym: "craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects" RELATED [GARD:0008584]
xref: GARD:0008584 {source="MONDO:equivalentTo"}
xref: MESH:C537960 {source="MONDO:equivalentTo"}
xref: UMLS:C0796276 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0008584"}
is_a: MONDO:0001029 {source="MESH:C537960"} ! Klippel-Feil syndrome
property_value: exactMatch http://identifiers.org/mesh/C537960
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796276
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome xsd:anyURI {source="GARD:0008584"}

[Term]
id: MONDO:0022057
name: calcifying epithelial odontogenic tumor
def: "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." [NCIT:C54301]
subset: gard_rare
synonym: "calcifying epithelial odontogenic tumor" EXACT [NCIT:C54301]
synonym: "CEOT" RELATED [GARD:0006256]
synonym: "Pindborg tumor" EXACT [GARD:0006256, MESH:C537961, NCIT:C54301]
xref: GARD:0006256 {source="MONDO:equivalentTo"}
xref: ICDO:9340/0 {source="NCIT:C54301"}
xref: MESH:C537961 {source="MONDO:equivalentTo"}
xref: NCIT:C54301 {source="MONDO:equivalentTo"}
xref: UMLS:C0334574 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C54301", source="GARD:0006256"}
is_a: MONDO:0002531 {source="MESH:C537961"} ! skin neoplasm
is_a: MONDO:0021192 {source="MESH:C537961", source="NCIT:C54301"} ! odontogenic neoplasm
property_value: exactMatch http://identifiers.org/mesh/C537961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334574
property_value: exactMatch NCIT:C54301
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor xsd:anyURI {source="GARD:0006256"}

[Term]
id: MONDO:0022060
name: calloso-genital dysplasia
subset: gard_rare
synonym: "primary amenorrhoea with coloboma and total agenesis of the corpus callosum" RELATED [GARD:0001055, MESH:C537962]
xref: GARD:0001055 {source="MONDO:equivalentTo"}
xref: MESH:C537962 {source="MONDO:equivalentTo"}
xref: UMLS:C2931677 {source="GARD:0001055", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001476 {source="MESH:C537962"} ! coloboma
is_a: MONDO:0001836 {source="MESH:C537962"} ! amenorrhea (disease)
is_a: MONDO:0009022 {source="MESH:C537962"} ! corpus callosum, agenesis of
property_value: exactMatch http://identifiers.org/mesh/C537962
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931677
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia xsd:anyURI {source="GARD:0001055"}

[Term]
id: MONDO:0022067
name: Cantu sanchez-corona fragoso syndrome
subset: gard_rare
synonym: "severe mental deficiency proportionate dwarfism and delayed sexual maturation" RELATED [GARD:0001081]
synonym: "severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" RELATED [MESH:C535571]
xref: GARD:0001081 {source="MONDO:equivalentTo"}
xref: MESH:C535571 {source="MONDO:equivalentTo"}
xref: UMLS:C2930937 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0001081"}
is_a: MONDO:0000508 ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C535571", source="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930937
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome xsd:anyURI {source="GARD:0001081"}

[Term]
id: MONDO:0022070
name: Cantu sanchez-corona hernandez syndrome
def: "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" [GARD:0001083]
subset: gard_rare
xref: GARD:0001083 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022070"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome xsd:anyURI {source="GARD:0001083"}

[Term]
id: MONDO:0022071
name: carbon baby syndrome
def: "Carbon baby syndrome , also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." [GARD:0001089]
subset: gard_rare
synonym: "universal acquired melanosis" RELATED [GARD:0001089]
xref: GARD:0001089 {source="MONDO:equivalentTo"}
xref: SCTID:238700008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406419 {source="GARD:0001089", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022071"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/238700008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406419
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome xsd:anyURI {source="GARD:0001089"}

[Term]
id: MONDO:0022089
name: Carnevale hernandez castillo syndrome
subset: gard_rare
synonym: "Triphalyngeal thumbs and brachyectrodactyly" RELATED [GARD:0001117, MESH:C535585]
xref: GARD:0001117 {source="MONDO:equivalentTo"}
xref: MESH:C535585 {source="MONDO:equivalentTo"}
xref: UMLS:C2930940 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001117", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022089"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930940
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome xsd:anyURI {source="GARD:0001117"}

[Term]
id: MONDO:0022094
name: Cartwright Nelson Fryns syndrome
subset: gard_rare
synonym: "Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails" RELATED [GARD:0001132]
xref: GARD:0001132 {source="MONDO:equivalentTo"}
xref: MESH:C535917 {source="MONDO:equivalentTo"}
xref: UMLS:C2931062 {source="GARD:0001132", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C535917"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome xsd:anyURI {source="GARD:0001132"}

[Term]
id: MONDO:0022096
name: pyogenic granuloma
def: "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." [MESH:D017789]
synonym: "angiogranuloma" RELATED [MESH:D017789]
synonym: "angiogranulomas" RELATED [MESH:D017789]
synonym: "Capillary hemangioma of granulation tissue type" RELATED [UMLS:C0085653]
synonym: "Capillary Hemangioma, Lobular" RELATED [MESH:D017789, MSH:D017789]
synonym: "Granulation Tissue-Type Hemangioma" RELATED [NCIT:C3480]
synonym: "Granuloma Pyogenicum" RELATED [MESH:D017789, MSH:D017789, NCIT:C3480]
synonym: "Granuloma pyogenicum" RELATED [UMLS:C0085653]
synonym: "Granuloma telangiectaticum" RELATED [UMLS:C0085653]
synonym: "Granuloma Telangiecticum" RELATED [MESH:D017789, MSH:D017789, NCIT:C3480]
synonym: "Granuloma, Pyogenic" RELATED [MSH:D017789]
synonym: "Granulomata Pyogenicum" RELATED [NCIT:C3480]
synonym: "hemangioma, Lobular Capillary" RELATED [MESH:D017789, MSH:D017789]
synonym: "hemangiomatous Granulation Tissue" RELATED [NCIT:C3480]
synonym: "Lobular Capillary Hemangioma" RELATED [MESH:D017789, MSH:D017789]
synonym: "Lobular capillary hemangioma" RELATED [GARD:0010963, UMLS:C0085653]
synonym: "Lobular Hemangioma" RELATED [NCIT:C3480]
synonym: "PG - Pyogenic granuloma" RELATED [UMLS:C0085653]
synonym: "Pyogenic Granuloma" RELATED [MESH:D017789, MSH:D017789, NCIT:C3480]
synonym: "Pyogenic granuloma" RELATED [SNOMEDCT_US:17372009, SNOMEDCT_US:200722003]
xref: GARD:0010963 {source="MONDO:equivalentTo"}
xref: MESH:D017789 {source="MONDO:equivalentTo", source="UMLS:C0085653"}
xref: SCTID:200722003 {source="MONDO:equivalentTo", source="UMLS:C0085653"}
xref: UMLS:C0085653 {source="MONDO:equivalentTo"}
is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma
property_value: closeMatch http://identifiers.org/snomedct/17372009
property_value: closeMatch http://identifiers.org/snomedct/39629007
property_value: closeMatch NCIT:C3480
property_value: exactMatch http://identifiers.org/mesh/D017789
property_value: exactMatch http://identifiers.org/snomedct/200722003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085653

[Term]
id: MONDO:0022098
name: catamenial pneumothorax
def: "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus ( endometriosis ). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." [GARD:0009858]
subset: gard_rare
synonym: "catamenial pneumothorax" EXACT []
synonym: "premenstrual pneumothorax" RELATED []
xref: GARD:0009858 {source="MONDO:equivalentTo"}
xref: MESH:C538279 {source="MONDO:equivalentTo"}
xref: SCTID:233642001 {source="MONDO:equivalentTo"}
xref: UMLS:C0340007 {source="GARD:0009858", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002076 {source="MESH:C538279", source="linkedlifedata"} ! pneumothorax (disease)
property_value: exactMatch http://identifiers.org/mesh/C538279
property_value: exactMatch http://identifiers.org/snomedct/233642001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0340007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax xsd:anyURI {source="GARD:0009858"}

[Term]
id: MONDO:0022103
name: chronic prostatitis
def: "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." [NCIT:C26930]
synonym: "Chronic Prostatitis" RELATED [NCIT:C26930]
synonym: "Chronic prostatitis" RELATED [UMLS:C0085696]
synonym: "chronic prostatitis" EXACT [NCIT:C26930]
xref: ICD9:601.1 {source="linkedlife"}
xref: NCIT:C26930 {source="MONDO:equivalentTo", source="UMLS:C0085696"}
xref: SCTID:19905009 {source="MONDO:equivalentTo", source="UMLS:C0085696"}
xref: UMLS:C0085696 {source="MONDO:equivalentTo"}
is_a: MONDO:0005280 {source="NCIT:C26930", source="UMLS:C0085696"} ! prostatitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/19905009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085696
property_value: exactMatch NCIT:C26930

[Term]
id: MONDO:0022109
name: catatrichy
subset: gard_rare
synonym: "forelock" RELATED [GARD:0010080, MESH:C535346]
xref: GARD:0010080 {source="MONDO:equivalentTo"}
xref: MESH:C535346 {source="MONDO:equivalentTo"}
xref: UMLS:C1861799 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0010080"}
is_a: MONDO:0002917 {source="MESH:C535346"} ! disease of pilosebaceous unit
property_value: closeMatch http://identifiers.org/omim/116850
property_value: exactMatch http://identifiers.org/mesh/C535346
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1861799
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10080/catatrichy xsd:anyURI {source="GARD:0010080"}

[Term]
id: MONDO:0022113
name: central centrifugal cicatricial alopecia
subset: gard_rare
synonym: "central centrifugal alopecia" RELATED [GARD:0010826]
synonym: "central centrifugal cicatricial alopecia" EXACT []
synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA" RELATED [OMIM:618352]
synonym: "hot comb alopecia" RELATED []
xref: GARD:0010826 {source="MONDO:equivalentTo"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"}
xref: OMIM:618352 {source="MONDO:equivalentTo"}
xref: SCTID:109441000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C1274708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:618352"}
is_a: MONDO:0021034 ! genetic alopecia
property_value: exactMatch http://identifiers.org/omim/618352
property_value: exactMatch http://identifiers.org/snomedct/109441000119102
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274708
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia xsd:anyURI {source="GARD:0010826"}

[Term]
id: MONDO:0022140
name: Charles bonnet syndrome
def: "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." [GARD:0010343]
subset: gard_rare
synonym: "CBS" RELATED [GARD:0010343]
synonym: "charles bonnet syndrome" EXACT []
xref: GARD:0010343 {source="MONDO:equivalentTo"}
xref: SCTID:193756007 {source="MONDO:equivalentTo"}
xref: UMLS:C0339731 {source="MEDGEN:kboom-pr98-c99", source="GARD:0010343", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022140"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/193756007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339731
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome xsd:anyURI {source="GARD:0010343"}

[Term]
id: MONDO:0022145
name: obsolete Chiari malformation type II
is_obsolete: true
replaced_by: MONDO:0008816

[Term]
id: MONDO:0022151
name: Chitty Hall Webb syndrome
subset: gard_rare
synonym: "bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay" RELATED [GARD:0001277]
xref: GARD:0001277 {source="MONDO:equivalentTo"}
xref: MESH:C535929 {source="MONDO:equivalentTo"}
xref: SCTID:725103004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931066 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001277", source="MONDO:equivalentTo"}
is_a: MONDO:0005287 {source="MESH:C535929"} ! developmental disability
relationship: disease_has_feature MONDO:0005315 {source="MESH:C535929", source="https://github.com/monarch-initiative/mondo/issues/499"} ! bone fracture
relationship: excluded_subClassOf MONDO:0005315 {source="MESH:C535929"} ! bone fracture
property_value: exactMatch http://identifiers.org/mesh/C535929
property_value: exactMatch http://identifiers.org/snomedct/725103004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931066
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome xsd:anyURI {source="GARD:0001277"}

[Term]
id: MONDO:0022171
name: chromhidrosis
def: "a rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." [https://en.wikipedia.org/wiki/Chromhidrosis]
subset: gard_rare
synonym: "chromhidrosis" EXACT []
synonym: "secretion of colored sweat" RELATED []
xref: GARD:0010749 {source="MONDO:equivalentTo"}
xref: ICD10:L75.1 {source="MONDO:equivalentTo"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:26147006 {source="MONDO:equivalentTo"}
is_a: MONDO:0024467 {source="ICD10:L75.1", source="MONDO:Entailed", source="MONDO:Redundant"} ! apocrine sweat gland disease
property_value: exactMatch http://identifiers.org/snomedct/26147006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis xsd:anyURI {source="GARD:0010749"}

[Term]
id: MONDO:0022173
name: chromosome 11q trisomy
synonym: "Duplication 11q" RELATED [MESH:C538297]
synonym: "trisomy 11q" RELATED [MESH:C538297]
xref: MESH:C538297 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C538297

[Term]
id: MONDO:0022174
name: chromosome 12p deletion
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." [NCIT:C36410]
subset: gard_rare
synonym: "12p del" EXACT [NCIT:C36410]
synonym: "12p deletion" RELATED [GARD:0006068]
synonym: "12p monosomy" RELATED [GARD:0006068]
synonym: "12p-" EXACT [NCIT:C36410]
synonym: "del(12p)" EXACT [NCIT:C36410]
synonym: "deletion 12p" RELATED [GARD:0006068, MESH:C538301]
synonym: "loss of chromosome 12p" EXACT [NCIT:C36410]
synonym: "monosomy 12p" RELATED [GARD:0006068, MESH:C538301]
synonym: "partial monosomy 12p" RELATED [GARD:0006068]
xref: GARD:0006068 {source="MONDO:equivalentTo"}
xref: MESH:C538301 {source="MONDO:equivalentTo"}
xref: NCIT:C36410 {source="MONDO:equivalentTo"}
xref: UMLS:C0795844 {source="MONDO:equivalentTo", source="GARD:0006068"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C538301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795844
property_value: exactMatch NCIT:C36410
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion xsd:anyURI {source="GARD:0006068"}

[Term]
id: MONDO:0022177
name: chromosome 13q trisomy
synonym: "Duplication 13q" RELATED [MESH:C535485]
synonym: "trisomy 13q" RELATED [MESH:C535485]
xref: MESH:C535485 {source="MONDO:equivalentTo"}
xref: UMLS:C0795849 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C535485
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795849

[Term]
id: MONDO:0022178
name: chromosome 13q-mosaicism
synonym: "Mosiacism of chromosome 13q" RELATED [MESH:C535486]
xref: MESH:C535486 {source="MONDO:equivalentTo"}
xref: UMLS:CN037259 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="MESH:C535486"} ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C535486
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN037259

[Term]
id: MONDO:0022180
name: chromosome 16 trisomy
subset: gard_rare
synonym: "mosaic trisomy 16" RELATED [GARD:0007060]
synonym: "trisomy 16" RELATED [GARD:0007060]
synonym: "trisomy chromosome 16" RELATED [GARD:0007060]
xref: GARD:0007060 {source="MONDO:equivalentTo"}
xref: NCIT:C37866 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1519651
property_value: exactMatch NCIT:C37866
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy xsd:anyURI {source="GARD:0007060"}

[Term]
id: MONDO:0022196
name: chronic erosive gastritis
subset: gard_rare
synonym: "ceg - chronic erosive gastritis" RELATED []
synonym: "chronic erosive gastritis" EXACT []
synonym: "diffuse varioliform gastritis" RELATED []
synonym: "idiopathic chronic, erosive gastritis" RELATED [GARD:0006099]
synonym: "varioliform gastritis" RELATED [GARD:0006099]
xref: GARD:0006099 {source="MONDO:equivalentTo"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:63137003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004966 {source="MONDOLEX:0022196", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease)
property_value: exactMatch http://identifiers.org/snomedct/63137003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267145
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis xsd:anyURI {source="GARD:0006099"}

[Term]
id: MONDO:0022200
name: treatment for disease
comment: This modifier may be obsoleted in favor of MAO
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0022201
name: has treatment by surgery
comment: Editor note: see https://github.com/monarch-initiative/mondo-build/issues/75
is_a: MONDO:0022200 ! treatment for disease

[Term]
id: MONDO:0022202
name: disseminated
is_a: MONDO:0045040 ! locational disease characteristic

[Term]
id: MONDO:0022205
name: pustular psoriasis
subset: gard_rare
synonym: "Pustular psoriasis" RELATED [UMLS:C0152081]
synonym: "pustular psoriasis" EXACT []
xref: GARD:0012813 {source="MONDO:equivalentTo"}
xref: ICD9:696.1 {source="linkedlife"}
xref: MEDGEN:508876 {source="UMLS:C0152081"}
xref: SCTID:200973000 {source="UMLS:C0152081", source="MONDO:equivalentTo"}
xref: UMLS:C0152081 {source="MONDO:equivalentTo"}
is_a: MONDO:0005083 ! psoriasis
relationship: has_modifier MONDO:0021136 {source="GARD:0012813"} ! rare
property_value: closeMatch http://identifiers.org/medgen/508876
property_value: exactMatch http://identifiers.org/snomedct/200973000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152081

[Term]
id: MONDO:0022208
name: crystal arthropathy
synonym: "Arthritides, Crystal" RELATED [MSH:D000070657]
synonym: "Arthritides, Crystalline" RELATED [MSH:D000070657]
synonym: "Arthritis, Crystal" RELATED [MSH:D000070657]
synonym: "Arthritis, Crystalline" RELATED [MSH:D000070657]
synonym: "Arthropathies, Crystal" RELATED [MSH:D000070657]
synonym: "Arthropathies, Crystalline" RELATED [MSH:D000070657]
synonym: "Arthropathy, Crystal" RELATED [MSH:D000070657]
synonym: "Arthropathy, Crystalline" RELATED [MSH:D000070657]
synonym: "Crystal Arthritides" RELATED [MSH:D000070657]
synonym: "Crystal Arthritis" RELATED [MSH:D000070657]
synonym: "Crystal Arthropathies" RELATED [MSH:D000070657]
synonym: "Crystal Arthropathy" RELATED [MSH:D000070657]
synonym: "Crystal arthropathy" RELATED [UMLS:C0152087]
synonym: "crystal arthropathy" EXACT []
synonym: "Crystal-induced arthritis AND/OR synovitis" RELATED [UMLS:C0152087]
synonym: "crystal-induced arthritis and/or synovitis" RELATED []
synonym: "Crystal-related arthropathy and periarthropathy" RELATED [UMLS:C0152087]
synonym: "crystal-related arthropathy and periarthropathy" RELATED []
synonym: "Crystalline Arthritides" RELATED [MSH:D000070657]
synonym: "Crystalline Arthritis" RELATED [MSH:D000070657]
synonym: "Crystalline arthritis" RELATED [UMLS:C0152087]
synonym: "crystalline arthritis" RELATED []
synonym: "Crystalline Arthropathies" RELATED [MSH:D000070657]
synonym: "Crystalline Arthropathy" RELATED [MSH:D000070657]
xref: GARD:0012802 {source="MONDO:equivalentTo"}
xref: ICD9:712 {source="GARD:0012802"}
xref: ICD9:712.80 {source="linkedlife"}
xref: ICD9:712.88 {source="linkedlife"}
xref: ICD9:712.90 {source="linkedlife"}
xref: ICD9:712.98 {source="linkedlife"}
xref: MEDGEN:508879 {source="UMLS:C0152087"}
xref: SCTID:18834007 {source="MONDO:equivalentTo", source="UMLS:C0152087"}
xref: UMLS:C0152087 {source="MONDO:equivalentTo"}
is_a: MONDO:0006816 {source="UMLS:C0152087"} ! arthropathy
property_value: closeMatch http://identifiers.org/medgen/508879
property_value: closeMatch http://identifiers.org/mesh/D000070657
property_value: exactMatch http://identifiers.org/snomedct/18834007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152087

[Term]
id: MONDO:0022220
name: Parinaud syndrome
def: "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." [NCIT:C54102]
synonym: "Dorsal Midbrain Syndrome" RELATED [NCIT:C54102]
synonym: "Dorsal midbrain syndrome" RELATED [UMLS:C0152222]
synonym: "dorsal midbrain syndrome" EXACT [NCIT:C54102]
synonym: "dorsal midbrain syndrome" RELATED []
synonym: "Paralysis of vertical movement" RELATED [UMLS:C0152222]
synonym: "paralysis of vertical movement" RELATED []
synonym: "Parinaud Syndrome" RELATED [MSH:D015835, NCIT:C54102]
synonym: "Parinaud syndrome" RELATED [UMLS:C0152222]
synonym: "parinaud syndrome" EXACT [NCIT:C54102]
synonym: "parinaud syndrome" RELATED []
synonym: "Parinaud's ophthalmoplegia" RELATED [UMLS:C0152222]
synonym: "parinaud's ophthalmoplegia" RELATED []
synonym: "Parinaud's Syndrome" RELATED [MSH:D015835]
synonym: "Parinaud's syndrome" RELATED [UMLS:C0152222]
synonym: "parinaud's syndrome" EXACT []
synonym: "Parinauds Syndrome" RELATED [MSH:D015835]
synonym: "Syndrome, Parinaud" RELATED [MSH:D015835]
synonym: "Syndrome, Parinaud's" RELATED [MSH:D015835]
synonym: "Vertical gaze palsy - Parinaud" RELATED [UMLS:C0152222]
synonym: "vertical gaze palsy - parinaud" RELATED []
xref: MEDGEN:57754 {source="UMLS:C0152222"}
xref: NCIT:C54102 {source="MONDO:equivalentTo", source="UMLS:C0152222"}
xref: SCTID:37991008 {source="MONDO:equivalentTo", source="UMLS:C0152222"}
xref: UMLS:C0152222 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C54102", source="UMLS:C0152222"} ! syndromic disease
property_value: closeMatch http://identifiers.org/medgen/57754
property_value: closeMatch http://identifiers.org/mesh/D015835
property_value: exactMatch http://identifiers.org/snomedct/37991008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152222
property_value: exactMatch NCIT:C54102

[Term]
id: MONDO:0022236
name: colpocephaly
alt_id: MONDO:0022808
def: "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." [GARD:0010008]
subset: gard_rare
xref: GARD:0010008 {source="MONDO:equivalentTo"}
xref: MESH:C535973 {source="MONDO:equivalentTo"}
xref: SCTID:253160006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="MESH:C535973", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! brain disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431384
property_value: exactMatch http://identifiers.org/mesh/C535973
property_value: exactMatch http://identifiers.org/snomedct/253160006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10008/colpocephaly xsd:anyURI {source="GARD:0010008"}

[Term]
id: MONDO:0022263
name: obsolete congenital hepatic fibrosis
alt_id: MONDO:0022266
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/399 xsd:string
is_obsolete: true
replaced_by: MONDO:0018840

[Term]
id: MONDO:0022293
name: vascular disorder of penis
def: "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." [NCIT:C35218]
synonym: "Penile Vascular Disorder" RELATED [NCIT:C35218]
synonym: "Penile vascular disorder" RELATED [UMLS:C0156307]
synonym: "penile vascular disorder" EXACT [NCIT:C35218]
synonym: "Penis vascular disorder" RELATED [UMLS:C0156307]
synonym: "Vascular disorder of penis" RELATED [UMLS:C0156307]
xref: ICD9:607.82 {source="linkedlife"}
xref: MEDGEN:102349 {source="UMLS:C0156307"}
xref: NCIT:C35218 {source="MONDO:equivalentTo", source="UMLS:C0156307"}
xref: SCTID:198029003 {source="MONDO:equivalentTo", source="UMLS:C0156307"}
xref: UMLS:C0156307 {source="MONDO:equivalentTo"}
is_a: MONDO:0002036 {source="NCIT:C35218", source="UMLS:C0156307"} ! penile disease
is_a: MONDO:0005385 {source="NCIT:C35218", source="UMLS:C0156307"} ! vascular disease
property_value: closeMatch http://identifiers.org/medgen/102349
property_value: exactMatch http://identifiers.org/snomedct/198029003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0156307
property_value: exactMatch NCIT:C35218

[Term]
id: MONDO:0022308
name: corticobasal degeneration disorder
def: "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." [NCIT:C129069]
subset: gard_rare
synonym: "CBGD" RELATED [GARD:0000046]
synonym: "cortical basal ganglionic Degeneration" EXACT [NCIT:C129069]
synonym: "cortical basal ganglionic degeneration" RELATED []
synonym: "cortical-basal ganglionic degeneration" RELATED [GARD:0000046]
synonym: "cortico-basal ganglionic Degeneration (CBGD)" RELATED [GARD:0000046]
synonym: "corticobasal degeneration" EXACT [NCIT:C129069]
synonym: "corticobasal syndrome" RELATED [GARD:0000046]
synonym: "corticodentatonigral degeneration with neuronal achromasia" RELATED []
xref: GARD:0000046 {source="MONDO:equivalentTo"}
xref: NCIT:C129069 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 ! neurodegenerative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0393570
property_value: exactMatch NCIT:C129069
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration xsd:anyURI {source="GARD:0000046"}

[Term]
id: MONDO:0022311
name: cote katsantoni syndrome
subset: gard_rare
synonym: "ectodermal dysplasia osteosclerosis" RELATED [GARD:0001554]
xref: GARD:0001554 {source="MONDO:equivalentTo"}
xref: MESH:C536449 {source="MONDO:equivalentTo"}
xref: UMLS:C2931195 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001554", source="MONDO:equivalentTo"}
is_a: MONDO:0007405 {source="MESH:C536449"} ! Crouzon syndrome
property_value: closeMatch Orphanet:1502
property_value: exactMatch http://identifiers.org/mesh/C536449
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931195
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome xsd:anyURI {source="GARD:0001554"}

[Term]
id: MONDO:0022314
name: obsolete Hernandez Aguirre-Negrete syndrome
is_obsolete: true
replaced_by: MONDO:0016290

[Term]
id: MONDO:0022316
name: hair defect with photosensitivity and intellectual disability syndrome
def: "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." []
synonym: "hair defect with photosensitivity and intellectual disability syndrome" EXACT []
xref: SCTID:721007005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022316"} ! syndromic disease
is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease
property_value: exactMatch http://identifiers.org/snomedct/721007005

[Term]
id: MONDO:0022321
name: 2-methylacetoacetyl CoA thiolase deficiency
comment: Editor note: todo split https://en.wikipedia.org/wiki/2-methylacetoacetyl-CoA_thiolase
subset: gard_rare
xref: GARD:0008382 {source="MONDO:equivalentTo"}
xref: MESH:C535307 {source="MONDO:equivalentTo"}
xref: UMLS:C2930874 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0008382"}
is_a: MONDO:0004736 {source="MESH:C535307"} ! inherited amino acid metabolic disorder
property_value: exactMatch http://identifiers.org/mesh/C535307
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930874
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency xsd:anyURI {source="GARD:0008382"}

[Term]
id: MONDO:0022323
name: 2-hydroxyethyl methacrylate sensitization
subset: gard_rare
synonym: "2-HEMA sensitization" RELATED [GARD:0008635]
synonym: "sensitization to 2-hydroxyethyl methacrylate" RELATED [GARD:0008635, MESH:C535305]
xref: GARD:0008635 {source="MONDO:equivalentTo"}
xref: MESH:C535305 {source="MONDO:equivalentTo"}
xref: UMLS:C2930873 {source="GARD:0008635", source="MONDO:equivalentTo"}
is_a: MONDO:0006525 {source="MESH:C535305"} ! allergic contact dermatitis
property_value: exactMatch http://identifiers.org/mesh/C535305
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930873
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization xsd:anyURI {source="GARD:0008635"}

[Term]
id: MONDO:0022330
name: 4-hydroxyphenylacetic aciduria
subset: gard_rare
xref: GARD:0008155 {source="MONDO:equivalentTo"}
xref: MESH:C535315 {source="MONDO:equivalentTo"}
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848680
property_value: exactMatch http://identifiers.org/mesh/C535315
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria xsd:anyURI {source="GARD:0008155"}

[Term]
id: MONDO:0022333
name: 5-nucleotidase syndrome
subset: gard_rare
synonym: "5'-Nucleotidase syndrome" RELATED [MESH:C535321]
synonym: "5'NT syndrome" RELATED [GARD:0008242]
xref: GARD:0008242 {source="MONDO:equivalentTo"}
xref: MESH:C535321 {source="MONDO:equivalentTo"}
xref: UMLS:C2930876 {source="MONDO:equivalentTo", source="GARD:0008242"}
is_a: MONDO:0019052 {source="MESH:C535321"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C535321
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930876
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome xsd:anyURI {source="GARD:0008242"}

[Term]
id: MONDO:0022337
name: AIDS dysmorphic syndrome
subset: gard_rare
xref: GARD:0005765 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022337"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome xsd:anyURI {source="GARD:0005765"}

[Term]
id: MONDO:0022338
name: ALK+ histiocytosis
subset: gard_rare
synonym: "anaplastic lymphoma kinase positive histiocytosis" RELATED [GARD:0010577]
xref: GARD:0010577 {source="MONDO:equivalentTo"}
is_a: MONDO:0002637 {source="MONDO:cjm"} ! histiocytosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis xsd:anyURI {source="GARD:0010577"}

[Term]
id: MONDO:0022349
name: congenital absence of septum pellucidum
def: "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures , and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia . Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." [GARD:0009253]
comment: Editor note: consider representing as finding
subset: gard_rare
synonym: "absence of septum pellucidum" EXACT []
xref: GARD:0009253 {source="MONDO:equivalentTo"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535562 {source="MONDO:equivalentTo"}
xref: SCTID:253143001 {source="MONDO:equivalentTo"}
is_a: MONDO:0008428 {source="MESH:C535562"} ! septooptic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0431371
property_value: exactMatch http://identifiers.org/mesh/C535562
property_value: exactMatch http://identifiers.org/snomedct/253143001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum xsd:anyURI {source="GARD:0009253"}

[Term]
id: MONDO:0022357
name: congenital acardia
comment: Editor note: axiomatize using HPO
subset: gard_rare
synonym: "acardia" EXACT []
synonym: "congenital absence of the heart" RELATED [GARD:0009823]
xref: GARD:0009823 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:205834002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="editor note - check this"} ! syndromic disease
is_a: MONDO:0019512 ! congenital heart malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344580
property_value: exactMatch http://identifiers.org/snomedct/205834002
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9823/acardia xsd:anyURI {source="GARD:0009823"}

[Term]
id: MONDO:0022380
name: acute lymphoblastic leukemia congenital sporadic aniridia
def: "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." [https://orcid.org/0000-0001-5208-3432, PMID:2735788]
subset: gard_rare
xref: GARD:0000523 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0018874 ! acute myeloid leukemia
relationship: disease_has_feature MONDO:0019172 ! aniridia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia xsd:anyURI {source="GARD:0000523"}

[Term]
id: MONDO:0022394
name: cervical intraepithelial neoplasia
subset: gard_rare
synonym: "Cervical Dysplasia" RELATED [NCIT:C3782]
synonym: "Cervical Intraepithelial Neoplasia" RELATED [MSH:D018290, NCIT:C3782]
synonym: "Cervical intraepithelial neoplasia" RELATED [UMLS:C0206708]
synonym: "Cervical Intraepithelial Neoplasm" RELATED [MSH:D018290]
synonym: "Cervical Intraepithelial Neoplasms" RELATED [MSH:D018290]
synonym: "Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782]
synonym: "Cervix Uteri Intraepithelial Neoplasia" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Cervix Uteri" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Cervix Uteri" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Uterine Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Uterine Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia, Cervical" RELATED [MSH:D018290]
synonym: "Intraepithelial Neoplasm, Cervical" RELATED [MSH:D018290]
synonym: "Intraepithelial Neoplasms, Cervical" RELATED [MSH:D018290]
synonym: "NEOPL CERVICAL INTRAEPITHELIAL" RELATED [MSH:D018290]
synonym: "Neoplasia, Cervical Intraepithelial" RELATED [MSH:D018290]
synonym: "Neoplasm, Cervical Intraepithelial" RELATED [MSH:D018290]
synonym: "Neoplasms, Cervical Intraepithelial" RELATED [MSH:D018290]
synonym: "Uterine Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782]
xref: GARD:0009244 {source="MONDO:equivalentTo"}
xref: MEDGEN:60214 {source="UMLS:C0206708"}
xref: SCTID:285636001 {source="MONDO:equivalentTo", source="UMLS:C0206708"}
xref: UMLS:C0206708 {source="MONDO:equivalentTo", source="GARD:0009244"}
is_a: MONDO:0006736 ! dysplasia of cervix
relationship: has_modifier MONDO:0021136 {source="GARD:0009244"} ! rare
property_value: closeMatch http://identifiers.org/medgen/60214
property_value: closeMatch NCIT:C3782
property_value: exactMatch http://identifiers.org/snomedct/285636001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206708

[Term]
id: MONDO:0022397
name: retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
subset: ordo_group_of_disorders
xref: Orphanet:156168 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156168"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156168

[Term]
id: MONDO:0022398
name: aglossia and situs inversus
def: "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." [PMID:26349289] {comment="https://orcid.org/0000-0001-5208-3432"}
comment: Editor note: check relationship to MONDO:0008740
subset: gard_rare
xref: GARD:0009211 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0010029 ! situs inversus
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus xsd:anyURI {source="GARD:0009211"}

[Term]
id: MONDO:0022399
name: retinal ciliopathy due to mutation in the rpgr gene
subset: ordo_group_of_disorders
xref: Orphanet:156171 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156171"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156171

[Term]
id: MONDO:0022400
name: retinal ciliopathy due to mutation in the rpgrip gene
subset: ordo_group_of_disorders
xref: Orphanet:156174 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156174"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156174

[Term]
id: MONDO:0022401
name: agyria pachygyria polymicrogyria
def: "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." [https://orcid.org/0000-0001-5208-3432, PMID:22333901]
subset: gard_rare
xref: GARD:0000572 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria xsd:anyURI {source="GARD:0000572"}

[Term]
id: MONDO:0022402
name: agyria-pachygyria type 1
def: "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." [https://orcid.org/0000-0001-5208-3432, PMID:2063992]
subset: gard_rare
synonym: "Bielchowsky type of lissencephaly" EXACT [PMID:2063992]
synonym: "type I lissencephaly" EXACT [PMID:2063992]
xref: GARD:0000573 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1 xsd:anyURI {source="GARD:0000573"}

[Term]
id: MONDO:0022403
name: Ahumada Del Castillo syndrome
def: "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." [https://orcid.org/0000-0001-5208-3432, PMID:13022752]
subset: gard_rare
synonym: "amenorrhea galactorrhea FSH decrease syndrome" RELATED [GARD:0005763]
synonym: "Argonz Ahumada Del Castillo syndrome" RELATED [GARD:0005763]
synonym: "Argonz Del Castillo syndrome" RELATED [GARD:0005763]
synonym: "galactorrhea amenorrhea without pregnancy" RELATED [GARD:0005763]
synonym: "nonpuerperal galactorrhe amenorrhea" RELATED [GARD:0005763]
xref: GARD:0005763 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022403"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome xsd:anyURI {source="GARD:0005763"}

[Term]
id: MONDO:0022404
name: retinal ciliopathy due to mutation in usher gene
subset: ordo_group_of_disorders
xref: Orphanet:156177 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156177"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156177

[Term]
id: MONDO:0022405
name: retinal ciliopathy due to mutation in nephronophthisis gene
subset: ordo_group_of_disorders
xref: Orphanet:156180 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156180"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156180

[Term]
id: MONDO:0022406
name: obsolete aksu von stockhausen syndrome
is_obsolete: true
replaced_by: MONDO:0021836

[Term]
id: MONDO:0022407
name: retinal ciliopathy due to mutation in bardet-biedl gene
subset: ordo_group_of_disorders
xref: Orphanet:156183 {source="MONDO:equivalentTo"}
is_a: MONDO:0022410 {source="Orphanet:156183"} ! retinal ciliopathy
property_value: exactMatch Orphanet:156183

[Term]
id: MONDO:0022409
name: nephropathy-associated ciliopathy
subset: ordo_group_of_disorders
xref: Orphanet:156162 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 ! kidney disease
is_a: MONDO:0005308 {source="Orphanet:156162"} ! ciliopathy
property_value: exactMatch Orphanet:156162

[Term]
id: MONDO:0022410
name: retinal ciliopathy
subset: ordo_group_of_disorders
xref: Orphanet:156165 {source="MONDO:equivalentTo"}
is_a: MONDO:0005283 ! retinal disease
is_a: MONDO:0005308 {source="Orphanet:156165"} ! ciliopathy
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch Orphanet:156165

[Term]
id: MONDO:0022412
name: obsolete albinism immunodeficiency
subset: gard_rare
xref: GARD:0000590 {source="MONDO:obsoleteEquivalent"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency xsd:anyURI {source="GARD:0000590"}
is_obsolete: true

[Term]
id: MONDO:0022413
name: Albright-like syndrome
subset: gard_rare
synonym: "Albright like syndrome" RELATED [GARD:0000596]
xref: GARD:0000596 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022413"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0008274 ! polyostotic fibrous dysplasia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome xsd:anyURI {source="GARD:0000596"}

[Term]
id: MONDO:0022414
name: allain-babin-demarquez syndrome
subset: gard_rare
synonym: "acro cephalo synostosis" RELATED [GARD:0000124]
synonym: "craniosynostosis synostoses hypertensive nephropathy" RELATED [GARD:0000124]
xref: GARD:0000124 {source="MONDO:equivalentTo"}
xref: Orphanet:1526 {source="GARD:0000124", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022414"} ! syndromic disease
property_value: exactMatch Orphanet:1526
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome xsd:anyURI {source="GARD:0000124"}

[Term]
id: MONDO:0022417
name: alopecia congenita keratosis palmoplantaris
synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [MESH:C537050]
synonym: "alopecia congenita with keratosis palmoplantaris" RELATED [MESH:C537050]
xref: MESH:C537050 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0019272 ! hereditary palmoplantar keratoderma
property_value: exactMatch http://identifiers.org/mesh/C537050

[Term]
id: MONDO:0022418
name: obsolete alopecia immunodeficiency
comment: Editor note: removed from GARD, merged with MONDO:0011132
is_obsolete: true
replaced_by: MONDO:0011132

[Term]
id: MONDO:0022423
name: obsolete alpha-2 deficient collagen disease
comment: Duplicate.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0008761

[Term]
id: MONDO:0022424
name: alpha-mannosidosis type 1
xref: MESH:C536584 {source="MONDO:equivalentTo"}
xref: UMLS:C2931251 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009561 {source="MESH:C536584"} ! alpha-mannosidosis
property_value: exactMatch http://identifiers.org/mesh/C536584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931251

[Term]
id: MONDO:0022425
name: alpha-thalassemia-abnormal morphogenesis
subset: gard_rare
synonym: "Abuelo Forman Rubin syndrome" RELATED [GARD:0000362]
synonym: "homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects" RELATED [GARD:0000362]
xref: GARD:0000362 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022425"} ! syndromic disease
relationship: disease_has_feature MONDO:0011399 ! alpha thalassemia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis xsd:anyURI {source="GARD:0000362"}

[Term]
id: MONDO:0022428
name: aluminosis
def: "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." [https://orcid.org/0000-0001-5208-3432, PMID:16722569]
subset: gard_rare
synonym: "aluminium lung" RELATED [GARD:0008357]
synonym: "aluminosis of lung" EXACT []
synonym: "pulmonary aluminosis" EXACT []
xref: GARD:0008357 {source="MONDO:equivalentTo"}
xref: SCTID:90623003 {source="MONDO:equivalentTo"}
xref: UMLS:C0311227 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0008357"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/90623003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311227
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung xsd:anyURI {source="GARD:0008357"}

[Term]
id: MONDO:0022430
name: persistent fetal circulation syndrome
def: "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." [NCIT:C85006]
comment: Editor note: consider relationship to MONDO:0009934
synonym: "persistent fetal circulation" EXACT [NCIT:C85006]
synonym: "persistent pulmonary hypertension of the newborn" EXACT [NCIT:C85006]
synonym: "PPHN" EXACT [NCIT:C85006]
xref: NCIT:C85006 {source="MONDO:equivalentTo"}
xref: SCTID:233815004 {source="MONDO:equivalentTo"}
is_a: MONDO:0024239 {source="linkedlifedata"} ! congenital anomaly of cardiovascular system
property_value: closeMatch http://identifiers.org/snomedct/206597007
property_value: closeMatch http://identifiers.org/snomedct/35604006
property_value: exactMatch http://identifiers.org/snomedct/233815004
property_value: exactMatch NCIT:C85006

[Term]
id: MONDO:0022432
name: alves Castelo dos Santos syndrome
synonym: "ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" RELATED [MESH:C536593]
xref: MESH:C536593 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MESH:C536593", source="MONDOLEX:0022432"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C536593

[Term]
id: MONDO:0022434
name: obsolete amelia cleft lip palate hydrocephalus iris coloboma
is_obsolete: true
replaced_by: MONDO:0011052

[Term]
id: MONDO:0022435
name: Mauriac syndrome
def: "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." [NCIT:C130997]
synonym: "Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" RELATED [GTR:AN0543890, SNOMEDCT_US:80660001]
synonym: "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" RELATED []
synonym: "Mauriac Syndrome" RELATED [NCIT:C130997]
synonym: "Mauriac syndrome" RELATED [GTR:AN0543843, SNOMEDCT_US:80660001]
synonym: "mauriac syndrome" EXACT [NCIT:C130997]
synonym: "mauriac syndrome" RELATED []
synonym: "Mauriac's syndrome" RELATED [UMLS:C0221005]
synonym: "mauriac's syndrome" EXACT []
xref: GTR:AN0543843 {source="UMLS:C0221005"}
xref: GTR:AN0543890 {source="UMLS:C0221005"}
xref: ICD9:258.1 {source="linkedlife"}
xref: NCIT:C130997 {source="MONDO:equivalentTo", source="UMLS:C0221005"}
xref: SCTID:80660001 {source="MONDO:equivalentTo", source="UMLS:C0221005"}
xref: UMLS:C0221005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C130997", source="UMLS:C0221005"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/80660001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221005
property_value: exactMatch NCIT:C130997

[Term]
id: MONDO:0022444
name: amyloidosis bronchopulmonary
def: "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." [https://orcid.org/0000-0001-5208-3432, PMID:22197156]
subset: gard_rare
xref: GARD:0001026 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="MONDO:cjm"} ! amyloidosis (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary xsd:anyURI {source="GARD:0001026"}

[Term]
id: MONDO:0022446
name: amyloidosis nodular localized cutaneous
subset: gard_rare
synonym: "amyloidosis cutis nodularis atrophicans" RELATED [GARD:0010562]
synonym: "NLCA" RELATED [GARD:0010562]
xref: GARD:0010562 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="MONDO:cjm"} ! amyloidosis (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous xsd:anyURI {source="GARD:0010562"}

[Term]
id: MONDO:0022448
name: obsolete amyoplasia mandibulofacial dysostosis
subset: gard_rare
xref: GARD:0000660 {source="MONDO:obsoleteEquivalent"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis xsd:anyURI {source="GARD:0000660"}
is_obsolete: true

[Term]
id: MONDO:0022453
name: angiomyomatous hamartoma
def: "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." [https://orcid.org/0000-0001-5208-3432, PMID:28899738]
subset: gard_rare
xref: GARD:0008313 {source="MONDO:equivalentTo"}
xref: UMLS:C2959445 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006499 ! hamartoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2959445
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma xsd:anyURI {source="GARD:0008313"}

[Term]
id: MONDO:0022454
name: angiosarcoma of the scalp
def: "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema , prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." [GARD:0005814]
subset: gard_rare
synonym: "angiosarcoma (disease) of scalp" EXACT []
synonym: "scalp angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: GARD:0005814 {source="MONDO:equivalentTo"}
is_a: MONDO:0005627 ! head and neck cancer
is_a: MONDO:0016982 ! angiosarcoma (disease)
is_a: MONDO:0044999 ! scalp disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp xsd:anyURI {source="GARD:0005814"}

[Term]
id: MONDO:0022456
name: ankle defects short stature
subset: gard_rare
xref: GARD:0000694 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature xsd:anyURI {source="GARD:0000694"}

[Term]
id: MONDO:0022457
name: ankyloblepharon filiforme imperforate anus
subset: gard_rare
xref: GARD:0000697 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus xsd:anyURI {source="GARD:0000697"}

[Term]
id: MONDO:0022458
name: annular constricting bands
def: "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." [https://orcid.org/0000-0001-5208-3432, PMID:374416]
subset: gard_rare
xref: GARD:0000704 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands xsd:anyURI {source="GARD:0000704"}

[Term]
id: MONDO:0022460
name: obsolete anophthalmia cleft lip palate hypothalamic disorder
is_obsolete: true
replaced_by: MONDO:0010930

[Term]
id: MONDO:0022461
name: anophthalmia cleft palate micrognathia
def: "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." [https://orcid.org/0000-0001-5208-3432, PMID:7891380]
subset: gard_rare
xref: GARD:0000715 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia xsd:anyURI {source="GARD:0000715"}

[Term]
id: MONDO:0022462
name: anophthalmia esophageal atresia cryptorchidism
def: "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism." [https://orcid.org/0000-0001-5208-3432, PMID:1352427]
subset: gard_rare
subset: n_of_one {xref="PMID:1352427"}
xref: GARD:0000716 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism xsd:anyURI {source="GARD:0000716"}

[Term]
id: MONDO:0022463
name: obsolete anophthalmia megalocornea cardiopathy skeletal anomalies
is_obsolete: true
replaced_by: MONDO:0015230

[Term]
id: MONDO:0022464
name: obsolete anophthalmia microcephaly hypogonadism
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
xref: GARD:0000718 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 https://github.com/monarch-initiative/mondo/issues/141 xsd:string
is_obsolete: true

[Term]
id: MONDO:0022465
name: anotia facial palsy cardiac defect
def: "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." [https://orcid.org/0000-0001-5208-3432, PMID:6470867]
subset: gard_rare
xref: GARD:0000725 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect xsd:anyURI {source="GARD:0000725"}

[Term]
id: MONDO:0022468
name: antigen-peptide-transporter 2 deficiency
def: "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." [https://orcid.org/0000-0001-5208-3432, PMID:23662797]
subset: gard_rare
synonym: "antigen processing (TAP) deficiency syndrome" EXACT [PMID:23662797]
synonym: "TAP 2 deficiency" RELATED [GARD:0000732]
xref: GARD:0000732 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency xsd:anyURI {source="GARD:0000732"}

[Term]
id: MONDO:0022469
name: obsolete aortic arches defect
property_value: IAO:0000231 https://github.com/monarch-initiative/mondo/issues/141 xsd:string
is_obsolete: true
replaced_by: MONDO:0015236

[Term]
id: MONDO:0022470
name: aortic dissection lentiginosis
def: "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." [https://orcid.org/0000-0001-5208-3432, PMID:7838191]
subset: gard_rare
xref: GARD:0000742 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis xsd:anyURI {source="GARD:0000742"}

[Term]
id: MONDO:0022471
name: childhood aortic valve stenosis
subset: gard_rare
synonym: "aortic valves stenosis of the child" RELATED [GARD:0000744]
xref: GARD:0000744 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0003803 {source="MONDO:cjm"} ! aortic valve disease
is_a: MONDO:0042981 ! aortic valve stenosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child xsd:anyURI {source="GARD:0000744"}

[Term]
id: MONDO:0022481
name: APO A-i deficiency
subset: gard_rare
xref: GARD:0000758 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency xsd:anyURI {source="GARD:0000758"}

[Term]
id: MONDO:0022482
name: obsolete apolipoprotein C 2i deficiency
subset: gard_rare
xref: GARD:0000759 {source="MONDO:obsoleteEquivalent"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/759/apolipoprotein-c-2i-deficiency xsd:anyURI {source="GARD:0000759"}
is_obsolete: true
replaced_by: MONDO_0008810

[Term]
id: MONDO:0022495
name: obsolete arthritis short stature deafness
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
xref: GARD:0000775 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 https://github.com/monarch-initiative/mondo/issues/141 xsd:string
is_obsolete: true

[Term]
id: MONDO:0022496
name: arthrogryposis IUGR thoracic dystrophy
def: "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." [https://orcid.org/0000-0001-5208-3432, PMID:196478]
subset: gard_rare
synonym: "Van Bervliet syndrome" RELATED [GARD:0000782]
xref: GARD:0000782 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022496"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy xsd:anyURI {source="GARD:0000782"}

[Term]
id: MONDO:0022500
name: arthrogryposis multiplex congenita CNS calcification
def: "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." [https://orcid.org/0000-0001-5208-3432, PMID:3205375]
subset: gard_rare
xref: GARD:0000785 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification xsd:anyURI {source="GARD:0000785"}

[Term]
id: MONDO:0022504
name: arthrogryposis spinal muscular atrophy
subset: gard_rare
xref: GARD:0000795 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy xsd:anyURI {source="GARD:0000795"}

[Term]
id: MONDO:0022509
name: asternia
def: "Asternia , also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage . Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." [GARD:0009221]
subset: gard_rare
synonym: "absent sternum" RELATED [GARD:0009221]
xref: GARD:0009221 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1364751
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9221/asternia xsd:anyURI {source="GARD:0009221"}

[Term]
id: MONDO:0022510
name: atlanto-axial fusion
subset: gard_rare
synonym: "atlantoaxial fusion" RELATED [GARD:0009219, MESH:C538196]
synonym: "atlantoaxial joint fusion" RELATED [GARD:0009219, MESH:C538196]
xref: GARD:0009219 {source="MONDO:equivalentTo"}
xref: MESH:C538196 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C538196
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion xsd:anyURI {source="GARD:0009219"}

[Term]
id: MONDO:0022512
name: obsolete atrial septal defect coronary sinus
comment: Duplicate.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0020435

[Term]
id: MONDO:0022513
name: atrophoderma of Pierini and Pasini
def: "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma . Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi , a bacteria that causesLyme disease, in some cases." [GARD:0005866]
subset: gard_rare
synonym: "congenital atrophoderma of Pasini and Pierini" RELATED [GARD:0005866]
synonym: "idiopathic atrophoderma of Pasini and Pierini" RELATED [GARD:0005866]
xref: GARD:0005866 {source="MONDO:equivalentTo"}
xref: ICD10:L90.3 {source="MONDO:equivalentTo"}
xref: SCTID:711524008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263411
property_value: exactMatch http://identifiers.org/snomedct/711524008
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini xsd:anyURI {source="GARD:0005866"}

[Term]
id: MONDO:0022518
name: autoimmune inner ear disease
def: "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." [https://orcid.org/0000-0001-5208-3432, PMID:26485595]
subset: gard_rare
synonym: "AIED" RELATED [GARD:0008582]
xref: GARD:0008582 {source="MONDO:equivalentTo"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
is_a: MONDO:0002467 ! inner ear disease

[Term]
id: MONDO:0022519
name: autoimmune myocarditis
def: "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." [GARD:0009519]
subset: gard_rare
xref: GARD:0009519 {source="MONDO:equivalentTo"}
is_a: MONDO:0004496 ! myocarditis
is_a: MONDO:0030701 ! autoimmune cardiomyopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1608389

[Term]
id: MONDO:0022529
name: BK-virus nephropathy
subset: gard_rare
synonym: "BK virus nephropathy" EXACT [GARD:0010470]
synonym: "BKN" EXACT [GARD:0010470]
synonym: "kidney disease caused by BK polyomavirus" EXACT []
synonym: "nephropathy caused by BK polyomavirus" EXACT []
synonym: "nephropathy from BK virus" EXACT [GARD:0010470]
synonym: "polyomavirus associated nephropathy" EXACT [DOID:0040086]
synonym: "Polyomavirus nephropathy" EXACT [GARD:0010470]
synonym: "PVAN" EXACT [DOID:0040086]
xref: DOID:0040086 {source="MONDO:equivalentTo"}
xref: GARD:0010470 {source="MONDO:equivalentTo"}
xref: ICD9:079.89
xref: SCTID:713886006 {source="MONDO:equivalentTo"}
xref: UMLS:C1697878 {source="MONDO:equivalentTo", source="DOID:0040086", source="GARD:0010470"}
is_a: MONDO:0005784 {source="DOID:0040086"} ! hantavirus hemorrhagic fever with renal syndrome
property_value: exactMatch DOID:0040086
property_value: exactMatch http://identifiers.org/snomedct/713886006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1697878

[Term]
id: MONDO:0022535
name: autonomic facial cephalgia
synonym: "Autonomic facial cephalgia" RELATED [UMLS:C0238902]
synonym: "Carotidynia" RELATED [UMLS:C0238902]
synonym: "carotidynia" EXACT []
synonym: "Carotodynia" RELATED [UMLS:C0238902]
xref: GARD:0010369 {source="MONDO:equivalentTo"}
xref: ICD9:337.09 {source="linkedlife"}
xref: SCTID:230482003 {source="MONDO:equivalentTo", source="UMLS:C0238902"}
xref: UMLS:C0238902 {source="MONDO:equivalentTo"}
is_a: MONDO:0005269 ! carotid artery disease
property_value: closeMatch http://identifiers.org/snomedct/21615003
property_value: exactMatch http://identifiers.org/snomedct/230482003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238902

[Term]
id: MONDO:0022538
name: leukoplakia of gingiva
def: "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." [NCIT:C3881]
synonym: "Gingival Leukoplakia" RELATED [NCIT:C3881]
synonym: "gingival leukoplakia" EXACT [NCIT:C3881]
synonym: "Leukoplakia of Gingiva" RELATED [NCIT:C3881]
synonym: "Leukoplakia of gingiva" RELATED [UMLS:C0239737]
synonym: "leukoplakia of gingiva" EXACT [NCIT:C3881]
xref: ICD9:528.6 {source="linkedlife"}
xref: NCIT:C3881 {source="MONDO:equivalentTo", source="UMLS:C0239737"}
xref: SCTID:32236000 {source="MONDO:equivalentTo", source="UMLS:C0239737"}
xref: UMLS:C0239737 {source="MONDO:equivalentTo"}
is_a: MONDO:0002021 ! gingival disease
is_a: MONDO:0004844 ! oral mucosa leukoplakia
property_value: exactMatch http://identifiers.org/snomedct/32236000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0239737
property_value: exactMatch NCIT:C3881

[Term]
id: MONDO:0022545
name: Barnicoat Baraitser syndrome
comment: Editor note: check ORDO
subset: gard_rare
synonym: "Barnicoat-Baraitser syndrome" RELATED [GARD:0000825]
synonym: "polysyndactyly overgrowth syndrome" RELATED [GARD:0000825]
xref: GARD:0000825 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022545"} ! syndromic disease
property_value: closeMatch Orphanet:2936
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome xsd:anyURI {source="GARD:0000825"}

[Term]
id: MONDO:0022546
name: basal cell nevus anodontia abnormal bone mineralization
subset: gard_rare
xref: GARD:0000831 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/831/basal-cell-nevus-anodontia-abnormal-bone-mineralization xsd:anyURI {source="GARD:0000831"}

[Term]
id: MONDO:0022551
name: Basedow's coma
def: "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." [https://orcid.org/0000-0001-5208-3432, PMID:26293122]
subset: gard_rare
synonym: "Coma basedovicum" RELATED [GARD:0008177]
synonym: "Karl Adolph von Basedow" RELATED [GARD:0008177]
xref: GARD:0008177 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8177/basedows-coma xsd:anyURI {source="GARD:0008177"}

[Term]
id: MONDO:0022552
name: Bazopoulou Kyrkanidou syndrome
xref: MESH:C537664 {source="MONDO:equivalentTo"}
xref: UMLS:C2931580 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007405 {source="MESH:C537664"} ! Crouzon syndrome
property_value: exactMatch http://identifiers.org/mesh/C537664
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931580

[Term]
id: MONDO:0022553
name: BD syndrome
subset: gard_rare
xref: GARD:0000841 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022553"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0796008
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/841/bd-syndrome xsd:anyURI {source="GARD:0000841"}

[Term]
id: MONDO:0022555
name: Beardwell syndrome
synonym: "familial ankylosing vertebral hyperostosis with tylosis" RELATED [MESH:C537665]
xref: MESH:C537665 {source="MONDO:equivalentTo"}
xref: UMLS:C2931581 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022555"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931581

[Term]
id: MONDO:0022556
name: oculo-cerebral dysplasia
comment: Editor note: TODO update from ORDO
subset: gard_rare
synonym: "Behrens Baumann dust syndrome" RELATED [GARD:0004021]
synonym: "Behrens-Baumann-Vogel syndrome" RELATED [GARD:0004021]
synonym: "microphthalmia-optic nerve dysplasia" RELATED [GARD:0004021]
synonym: "unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus" RELATED [GARD:0004021]
xref: GARD:0004021 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022556"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931582
property_value: closeMatch Orphanet:2705
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia xsd:anyURI {source="GARD:0004021"}

[Term]
id: MONDO:0022557
name: behrens baumann dust syndrome
synonym: "oculo-cerebral dysplasia" RELATED [MESH:C537670]
xref: MESH:C537670 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0002427 {source="MESH:C537670"} ! cerebellar disease
is_a: MONDO:0016073 ! syndromic microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C537670

[Term]
id: MONDO:0022559
name: benign angiitis of the central nervous system
def: "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." [] {def="https://orcid.org/0000-0001-5208-3432", def="PMID:17043471"}
subset: gard_rare
synonym: "BACNS" RELATED [GARD:0008704]
xref: GARD:0008704 {source="MONDO:equivalentTo"}
is_a: MONDO:0003346 ! central nervous system vasculitis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system xsd:anyURI {source="GARD:0008704"}

[Term]
id: MONDO:0022560
name: benign metastasizing leiomyoma
def: "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." [https://orcid.org/0000-0001-5208-3432, PMID:28426767]
subset: gard_rare
xref: GARD:0010776 {source="MONDO:equivalentTo"}
is_a: MONDO:0001572 ! leiomyoma

[Term]
id: MONDO:0022566
name: obsolete BEST1 retinopathy
subset: gard_rare
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy xsd:anyURI {source="GARD:0010301"}
is_obsolete: true
replaced_by: MONDO:0007931

[Term]
id: MONDO:0022567
name: bhaskar jagannathan syndrome
xref: MESH:C535437 {source="MONDO:equivalentTo"}
xref: UMLS:C2930901 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020225 ! syndromic cataract
property_value: exactMatch http://identifiers.org/mesh/C535437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930901

[Term]
id: MONDO:0022568
name: bidirectional tachycardia
subset: gard_rare
synonym: "bidirectional ventricular tachycardia" RELATED [GARD:0000878, MESH:C535438]
xref: GARD:0000878 {source="MONDO:equivalentTo"}
xref: MESH:C535438 {source="MONDO:equivalentTo"}
xref: UMLS:C2930902 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000878"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930902
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia xsd:anyURI {source="GARD:0000878"}

[Term]
id: MONDO:0022572
name: bilateral renal agenesis dominant type
subset: gard_rare
xref: GARD:0000885 {source="MONDO:equivalentTo"}
is_a: MONDO:0015986 {source="MONDOLEX:0022572"} ! bilateral renal agenesis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type xsd:anyURI {source="GARD:0000885"}

[Term]
id: MONDO:0022573
name: biliary atresia intrahepatic non syndromic form
subset: gard_rare
xref: GARD:0000887 {source="MONDO:equivalentTo"}
is_a: MONDO:0008867 ! biliary atresia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form xsd:anyURI {source="GARD:0000887"}

[Term]
id: MONDO:0022574
name: biliary atresia intrahepatic syndromic form
subset: gard_rare
xref: GARD:0000888 {source="MONDO:equivalentTo"}
is_a: MONDO:0008867 ! biliary atresia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form xsd:anyURI {source="GARD:0000888"}

[Term]
id: MONDO:0022575
name: biliary hypoplasia
def: "A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts." [https://orcid.org/0000-0001-5208-3432, PMID:12664410]
comment: Editor note: consider making this a finding
subset: gard_rare
xref: GARD:0008383 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia xsd:anyURI {source="GARD:0008383"}

[Term]
id: MONDO:0022576
name: bilirubin induced brain injury in the newborn
subset: gard_rare
xref: GARD:0009243 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn xsd:anyURI {source="GARD:0009243"}

[Term]
id: MONDO:0022577
name: Billet bear syndrome
def: "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." [https://orcid.org/0000-0001-5208-3432, PMID:3282726]
subset: gard_rare
synonym: "billet-bear syndrome" EXACT []
synonym: "Lower limb partial duplication renal agenesis" RELATED [GARD:0000892]
xref: GARD:0000892 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022577"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome xsd:anyURI {source="GARD:0000892"}

[Term]
id: MONDO:0022578
name: childhood bladder carcinoma
def: "A rare carcinoma of the bladder that occurs during childhood." [NCIT:C118816]
subset: gard_rare
synonym: "bladder cancer" EXACT [NCIT:C118816]
synonym: "bladder cancer childhood" RELATED [GARD:0009305]
synonym: "bladder cancer, childhood" RELATED [GARD:0009305]
synonym: "bladder carcinoma, childhood" RELATED [GARD:0009305]
synonym: "childhood bladder cancer" EXACT [GARD:0009305, NCIT:C118816]
synonym: "childhood bladder carcinoma" EXACT [GARD:0009305, NCIT:C118816]
xref: GARD:0009305 {source="MONDO:equivalentTo"}
xref: NCIT:C118816 {source="MONDO:equivalentTo"}
xref: UMLS:C3899675 {source="MONDO:equivalentTo", source="NCIT:C118816"}
is_a: MONDO:0004986 {source="MONDOLEX:0022578", source="NCIT:C118816"} ! urinary bladder carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3899675
property_value: exactMatch NCIT:C118816
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood xsd:anyURI {source="GARD:0009305"}

[Term]
id: MONDO:0022580
name: blepharo naso facial syndrome van Maldergem type
def: "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." [https://orcid.org/0000-0001-5208-3432, PMID:12072799]
subset: gard_rare
xref: GARD:0000902 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022580"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type xsd:anyURI {source="GARD:0000902"}

[Term]
id: MONDO:0022586
name: bone dysplasia Moore type
subset: gard_rare
xref: GARD:0000923 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 ! primary bone dysplasia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type xsd:anyURI {source="GARD:0000923"}

[Term]
id: MONDO:0022587
name: bone dysplasia corpus callosum agenesis
subset: gard_rare
xref: GARD:0000921 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0018230 ! primary bone dysplasia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis xsd:anyURI {source="GARD:0000921"}

[Term]
id: MONDO:0022598
name: brachydactyly absence of distal phalanges
subset: gard_rare
xref: GARD:0000961 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges xsd:anyURI {source="GARD:0000961"}

[Term]
id: MONDO:0022599
name: brachydactyly anonychia
subset: gard_rare
xref: GARD:0000962 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia xsd:anyURI {source="GARD:0000962"}

[Term]
id: MONDO:0022602
name: brachydactyly small stature face anomalies
subset: gard_rare
xref: GARD:0000974 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies xsd:anyURI {source="GARD:0000974"}

[Term]
id: MONDO:0022603
name: brachydactyly tibial hypoplasia
subset: gard_rare
xref: GARD:0000977 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch Orphanet:1280
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia xsd:anyURI {source="GARD:0000977"}

[Term]
id: MONDO:0022605
name: brachymetapody anodontia hypotrichosis albinoidism
subset: gard_rare
xref: GARD:0000992 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism xsd:anyURI {source="GARD:0000992"}

[Term]
id: MONDO:0022606
name: branchial arch disease
def: "A disease that involves the pharyngeal system development." [MONDO:patterns/location]
subset: gard_rare
synonym: "disease of pharyngeal system development" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pharyngeal system development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of pharyngeal system development" RELATED [MONDO:patterns/basis_in_disruption_of_process, MONDO:patterns/location_top]
synonym: "pharyngeal system development disease" EXACT [MONDO:patterns/location]
xref: GARD:0001001 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis

[Term]
id: MONDO:0022607
name: extraovarian Brenner tumor of the vagina
def: "A Brenner tumor that involves the vagina." [MONDO:patterns/location]
subset: gard_rare
synonym: "Brenner tumor of the vagina" RELATED [GARD:0010006]
synonym: "extraovarian Brenner tumor of the vagina" EXACT [GARD:0010006]
synonym: "vagina Brenner tumor" EXACT [MONDO:patterns/location]
xref: GARD:0010006 {source="MONDO:equivalentTo"}
is_a: MONDO:0021050 ! vaginal neoplasm
is_a: MONDO:0024235 ! Brenner tumor
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina xsd:anyURI {source="GARD:0010006"}

[Term]
id: MONDO:0022608
name: brittle bone syndrome lethal type
subset: gard_rare
xref: GARD:0001018 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022608"} ! syndromic disease
is_a: MONDO:0011375 ! brittle bone disorder
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type xsd:anyURI {source="GARD:0001018"}

[Term]
id: MONDO:0022609
name: bronchial adenomas/carcinoids childhood
subset: gard_rare
synonym: "bronchial carcinoids" RELATED [GARD:0009313]
xref: GARD:0009313 {source="MONDO:equivalentTo"}
xref: UMLS:C4013426 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4013426
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood xsd:anyURI {source="GARD:0009313"}

[Term]
id: MONDO:0022610
name: bronchiectasis oligospermia
subset: gard_rare
xref: GARD:0001023 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia xsd:anyURI {source="GARD:0001023"}

[Term]
id: MONDO:0022611
name: Brunoni syndrome
synonym: "mesomelia, radial hypoplasia bifid thumb unusual facies" RELATED [MESH:C537408]
synonym: "mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia" RELATED [MESH:C537408]
xref: MESH:C537408 {source="MONDO:equivalentTo"}
xref: UMLS:C2931486 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MESH:C537408", source="MONDOLEX:0022611"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C537408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931486

[Term]
id: MONDO:0022612
name: Brunsting-Perry syndrome
subset: gard_rare
synonym: "Brunsting Perry syndrome" RELATED [GARD:0010454]
synonym: "cicatricial pemphigoid of the Brunsting-Perry type" RELATED [GARD:0010454]
synonym: "localized cicatricial pemphigoid" RELATED [GARD:0010454]
xref: EFO:0008611 {source="MONDO:equivalentTo"}
xref: GARD:0010454 {source="MONDO:equivalentTo"}
xref: UMLS:C1304226 {source="GARD:0010454", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022612"} ! syndromic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304226
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome xsd:anyURI {source="GARD:0010454"}

[Term]
id: MONDO:0022613
name: bruyn scheltens syndrome
subset: gard_rare
xref: GARD:0001034 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022613"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome xsd:anyURI {source="GARD:0001034"}

[Term]
id: MONDO:0022615
name: burn goodship syndrome
subset: gard_rare
xref: GARD:0001041 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022615"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome xsd:anyURI {source="GARD:0001041"}

[Term]
id: MONDO:0022618
name: burning mouth syndrome type 3
subset: gard_rare
synonym: "BMS-3" RELATED [GARD:0008558]
synonym: "Psychiatric disorders coexisting with burning mouth syndrome" RELATED [GARD:0008558]
synonym: "type 3 burning mouth syndrome" RELATED [GARD:0008558]
xref: GARD:0008558 {source="MONDO:equivalentTo"}
xref: MESH:C537413 {source="MONDO:equivalentTo"}
xref: UMLS:C2931487 {source="GARD:0008558", source="MONDO:equivalentTo"}
is_a: MONDO:0006687 {source="MESH:C537413", source="MONDOLEX:0022618"} ! burning mouth syndrome
property_value: exactMatch http://identifiers.org/mesh/C537413
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931487
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 xsd:anyURI {source="GARD:0008558"}

[Term]
id: MONDO:0022620
name: CD4 deficiency
subset: gard_rare
xref: GARD:0009523 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="DOID:0060018"} ! severe combined immunodeficiency (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency xsd:anyURI {source="GARD:0009523"}

[Term]
id: MONDO:0022622
name: CDG syndrome type 4
subset: gard_rare
xref: GARD:0001174 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 {source="DOID:0050571", source="MONDOLEX:0022622"} ! congenital disorder of glycosylation
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4 xsd:anyURI {source="GARD:0001174"}

[Term]
id: MONDO:0022623
name: CDK4 linked melanoma
subset: gard_rare
xref: GARD:0001175 {source="MONDO:equivalentTo"}
is_a: MONDO:0005105 ! melanoma (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma xsd:anyURI {source="GARD:0001175"}

[Term]
id: MONDO:0022633
name: camptodactyly joint contractures and facial skeletal dysplasia
xref: MESH:C537969 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0005307 {source="MESH:C537969"} ! contracture
relationship: disease_has_feature MONDO:0007342 {source="MESH:C537969"} ! clubfoot
property_value: exactMatch http://identifiers.org/mesh/C537969

[Term]
id: MONDO:0022634
name: camptodactyly vertebral fusion
subset: gard_rare
synonym: "camptodactyly and sacral vertebral fusion" RELATED [MESH:C537973]
synonym: "camptodactyly and sacral vertebral fusion (subtype)" RELATED [GARD:0001070]
xref: GARD:0001070 {source="MONDO:equivalentTo"}
xref: MESH:C537973 {source="MONDO:equivalentTo"}
xref: UMLS:C2931682 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0001070"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537973
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931682
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion xsd:anyURI {source="GARD:0001070"}

[Term]
id: MONDO:0022636
name: candida glabrata
subset: gard_rare
synonym: "Torulopsis glabrata (formerly)" RELATED [GARD:0008171]
xref: GARD:0008171 {source="MONDO:equivalentTo"}
is_a: MONDO:0002026 ! candidiasis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata xsd:anyURI {source="GARD:0008171"}

[Term]
id: MONDO:0022639
name: Cantu sanchez-corona Garcia-Cruz syndrome
subset: gard_rare
xref: GARD:0001082 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022639"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome xsd:anyURI {source="GARD:0001082"}

[Term]
id: MONDO:0022642
name: childhood carcinoid tumor
def: "A rare carcinoid tumor that occurs during childhood." [NCIT:C118810]
subset: gard_rare
synonym: "carcinoid tumor (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "carcinoid tumor childhood" RELATED [GARD:0009315]
synonym: "childhood carcinoid tumor" EXACT [NCIT:C118810]
synonym: "childhood carcinoid tumor (disease)" EXACT []
synonym: "pediatric carcinoid tumor (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric carcinoid tumor (disease)" RELATED [MONDO:patterns/childhood]
xref: GARD:0009315 {source="MONDO:equivalentTo"}
xref: NCIT:C118810 {source="MONDO:equivalentTo"}
xref: UMLS:C3899673 {source="MONDO:equivalentTo", source="NCIT:C118810"}
is_a: MONDO:0005369 {source="MONDO:Redundant", source="MONDOLEX:0022642", source="NCIT:C118810"} ! carcinoid tumor (disease)
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3899673
property_value: exactMatch NCIT:C118810
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood xsd:anyURI {source="GARD:0009315"}

[Term]
id: MONDO:0022643
name: carcinoma of the vocal tract
def: "A carcinoma that involves the laryngeal vocal fold." [MONDO:patterns/location]
subset: gard_rare
synonym: "carcinoma of laryngeal vocal fold" EXACT [MONDO:patterns/carcinoma]
synonym: "laryngeal vocal fold carcinoma" EXACT [MONDO:patterns/location]
xref: GARD:0005996 {source="MONDO:equivalentTo"}
is_a: MONDO:0002355 ! glottis carcinoma

[Term]
id: MONDO:0022644
name: cardiac hydatid cysts with intracavitary expansion
subset: gard_rare
synonym: "Cardiac hydatidosis" RELATED [GARD:0000199]
xref: GARD:0000199 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion xsd:anyURI {source="GARD:0000199"}

[Term]
id: MONDO:0022645
name: cardioencephalomyopathy
subset: gard_rare
xref: GARD:0010673 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy xsd:anyURI {source="GARD:0010673"}

[Term]
id: MONDO:0022646
name: cardiofacial syndrome short limbs
subset: gard_rare
xref: GARD:0001097 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022646"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs xsd:anyURI {source="GARD:0001097"}

[Term]
id: MONDO:0022647
name: cardiomelic syndrome stratton Koehler type
subset: gard_rare
xref: GARD:0001099 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022647"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type xsd:anyURI {source="GARD:0001099"}

[Term]
id: MONDO:0022648
name: cardiomyopathy and deafness due to tRNA lysine gene mutation
def: "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle ( cardiomyopathy ) and hearing loss. Affected individuals may also have myopathy and ataxia . This mutation replaces the DNA building block ( nucleotide ) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." [GARD:0001108]
subset: gard_rare
synonym: "cardiomyopathy and deafness due to MTTK gene mutation" RELATED [GARD:0001108, GTR:AN0103739]
synonym: "cardiomyopathy and deafness due to tRNA lysine gene mutation" EXACT [GTR:AN0103738]
xref: GARD:0001108 {source="MONDO:equivalentTo"}
xref: GTR:AN0103738 {source="UMLS:CN036924"}
xref: GTR:AN0103739 {source="UMLS:CN036924"}
xref: HGNC:7489 {source="MONDO:gene", source="GARD:0001108"}
xref: UMLS:CN036924 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036924
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation xsd:anyURI {source="GARD:0001108"}

[Term]
id: MONDO:0022650
name: cardiomyopathy diabetes deafness
subset: gard_rare
xref: GARD:0001103 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
relationship: disease_has_feature MONDO:0005365 ! hearing loss disorder
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness xsd:anyURI {source="GARD:0001103"}

[Term]
id: MONDO:0022651
name: cardiomyopathy dilated with conduction defect type 1
subset: gard_rare
xref: GARD:0001104 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 xsd:anyURI {source="GARD:0001104"}

[Term]
id: MONDO:0022652
name: cardiomyopathy dilated with conduction defect type 2
subset: gard_rare
xref: GARD:0005644 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2 xsd:anyURI {source="GARD:0005644"}

[Term]
id: MONDO:0022653
name: cardiomyopathy due to anthracyclines
subset: gard_rare
xref: GARD:0001107 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 ! cardiomyopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines xsd:anyURI {source="GARD:0001107"}

[Term]
id: MONDO:0022654
name: cardiomyopathy hypogonadism collagenoma syndrome
synonym: "cardiomyopathy-hypogonadism-collagenoma syndrome" RELATED [MESH:C535582]
xref: MESH:C535582 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022654"} ! syndromic disease
relationship: disease_has_feature MONDO:0002146 {source="MESH:C535582"} ! hypogonadism
relationship: disease_has_feature MONDO:0002531 {source="MESH:C535582"} ! skin neoplasm
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy
property_value: exactMatch http://identifiers.org/mesh/C535582

[Term]
id: MONDO:0022655
name: cardiomyopathy hypogonadism metabolic anomalies
subset: gard_rare
xref: GARD:0001109 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: disease_has_feature MONDO:0002146 {source="MESH:C535582"} ! hypogonadism
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies xsd:anyURI {source="GARD:0001109"}

[Term]
id: MONDO:0022656
name: cardiomyopathy spherocytosis
subset: gard_rare
xref: GARD:0001110 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis xsd:anyURI {source="GARD:0001110"}

[Term]
id: MONDO:0022662
name: carpo tarsal osteolysis recessive
subset: gard_rare
xref: GARD:0001129 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive xsd:anyURI {source="GARD:0001129"}

[Term]
id: MONDO:0022666
name: cassavism
subset: gard_rare
xref: GARD:0010442 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10442/cassavism xsd:anyURI {source="GARD:0010442"}

[Term]
id: MONDO:0022672
name: autosomal dominant cataract
def: "A syndromic cataract that has autosomal dominant inheritance." [https://orcid.org/0000-0001-5208-3432]
subset: gard_rare
synonym: "cataract congenital autosomal dominant" RELATED [GARD:0001143]
xref: GARD:0001143 {source="MONDO:equivalentTo"}
is_a: MONDO:0020225 ! syndromic cataract
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant xsd:anyURI {source="GARD:0001143"}

[Term]
id: MONDO:0022673
name: autosomal dominant non-nuclear cataract
subset: gard_rare
synonym: "autosomal dominant nonnuclear polymorphic congenital cataract" RELATED [GARD:0001144, MESH:C538284]
synonym: "cataract congenital dominant non nuclear" RELATED [GARD:0001144]
synonym: "cataract, Nonnuclear polymorphic congenital, autosomal dominant" RELATED [MESH:C538284]
synonym: "cataract, polymorphic congenital" RELATED [GARD:0001144, MESH:C538284]
synonym: "CCP" RELATED [GARD:0001144]
synonym: "PCC" RELATED [GARD:0001144]
xref: GARD:0001144 {source="MONDO:equivalentTo"}
xref: MESH:C538284 {source="MONDO:equivalentTo"}
is_a: MONDO:0020225 ! syndromic cataract
property_value: closeMatch http://identifiers.org/omim/601286
property_value: exactMatch http://identifiers.org/mesh/C538284
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear xsd:anyURI {source="GARD:0001144"}

[Term]
id: MONDO:0022675
name: cataract skeletal anomalies
subset: gard_rare
xref: GARD:0001158 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies xsd:anyURI {source="GARD:0001158"}

[Term]
id: MONDO:0022676
name: cataract - glaucoma
subset: gard_rare
xref: GARD:0001160 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma xsd:anyURI {source="GARD:0001160"}

[Term]
id: MONDO:0022682
name: cennamo gangemi syndrome
subset: gard_rare
synonym: "hydrocephalus cataract microphthalmos" RELATED [GARD:0001179]
xref: GARD:0001179 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022682"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome xsd:anyURI {source="GARD:0001179"}

[Term]
id: MONDO:0022685
name: cerebellar agenesis
subset: gard_rare
xref: GARD:0001187 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis xsd:anyURI {source="GARD:0001187"}

[Term]
id: MONDO:0022687
name: cerebellar degeneration
def: "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." [NCIT:C84624]
subset: gard_rare
synonym: "Brain degeneration" EXACT [DOID:1443]
synonym: "cerebellar Degeneration" EXACT [NCIT:C84624]
synonym: "cerebellar degeneration" EXACT []
synonym: "cerebellum neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "cerebral degeneration" RELATED [DOID:1443]
synonym: "neurodegenerative disease of cerebellum" EXACT [MONDO:design_pattern]
xref: DOID:1443 {source="MONDO:equivalentTo"}
xref: GARD:0006019 {source="MONDO:equivalentTo"}
xref: ICD9:331.9 {source="DOID:1443", source="MONDO:directSiblingOf"}
xref: NCIT:C84624 {source="MONDO:equivalentTo"}
xref: SCTID:95646004 {source="MONDO:equivalentTo"}
xref: UMLS:C0262404 {source="GARD:0006019", source="MEDGEN:kboom-pr98-c99", source="NCIT:C84624", source="MONDO:equivalentTo"}
is_a: MONDO:0002427 ! cerebellar disease
is_a: MONDO:0005559 ! neurodegenerative disease
property_value: closeMatch http://identifiers.org/snomedct/154994001
property_value: closeMatch http://identifiers.org/snomedct/154998003
property_value: closeMatch http://identifiers.org/snomedct/192824002
property_value: closeMatch http://identifiers.org/snomedct/267579001
property_value: closeMatch http://identifiers.org/snomedct/267686002
property_value: closeMatch http://identifiers.org/snomedct/267688001
property_value: closeMatch http://identifiers.org/snomedct/52522001
property_value: closeMatch http://identifiers.org/snomedct/73768007
property_value: exactMatch DOID:1443
property_value: exactMatch http://identifiers.org/snomedct/95646004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0262404
property_value: exactMatch NCIT:C84624
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration xsd:anyURI {source="GARD:0006019"}

[Term]
id: MONDO:0022691
name: cerebello-olivary atrophy
subset: gard_rare
synonym: "Cerebelloolivary atrophy" RELATED [GARD:0001198]
xref: GARD:0001198 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy xsd:anyURI {source="GARD:0001198"}

[Term]
id: MONDO:0022693
name: cerebral calcification cerebellar hypoplasia
subset: gard_rare
xref: GARD:0001201 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia xsd:anyURI {source="GARD:0001201"}

[Term]
id: MONDO:0022694
name: cerebral calcifications opalescent teeth phosphaturia
subset: gard_rare
xref: GARD:0001202 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia xsd:anyURI {source="GARD:0001202"}

[Term]
id: MONDO:0022697
name: athetoid cerebral palsy
def: "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." [NCIT:C97169]
subset: gard_rare
synonym: "ADCP" RELATED [https://en.wikipedia.org/wiki/Athetoid_cerebral_palsy]
synonym: "athetoid cerebral palsy" RELATED [GARD:0010449]
synonym: "athetoid dyskinetic cerebral palsy" EXACT [DOID:0050672]
synonym: "cerebral palsy dyskinetic" RELATED [GARD:0010449]
synonym: "dyskinetic cerebral palsy" EXACT [https://en.wikipedia.org/wiki/Athetoid_cerebral_palsy]
xref: DOID:0050672 {source="MONDO:equivalentTo"}
xref: GARD:0010449 {source="MONDO:equivalentTo"}
xref: ICD10:G80.3 {source="MONDO:equivalentTo"}
xref: NCIT:C97169 {source="MONDO:equivalentTo"}
xref: SCTID:230780007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"}
xref: SCTID:75019001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270742 {source="MONDO:equivalentTo", source="GARD:0010449"}
is_a: MONDO:0006497 {source="DOID:0050672", source="ICD10:G80.3", source="MONDOLEX:0000399", source="MONDOLEX:0022697", source="NCIT:C97169", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral palsy
property_value: exactMatch DOID:0050672
property_value: exactMatch http://identifiers.org/snomedct/230780007
property_value: exactMatch http://identifiers.org/snomedct/75019001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270742
property_value: exactMatch NCIT:C97169
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid xsd:anyURI {source="GARD:0010449"}

[Term]
id: MONDO:0022699
name: cerebral palsy spastic hemiplegic
subset: gard_rare
synonym: "spastic hemiplegia cerebral palsy" RELATED [GARD:0010448]
synonym: "spastic hemiplegic cerebral palsy" RELATED [GARD:0010448]
xref: GARD:0010448 {source="MONDO:equivalentTo"}
is_a: MONDO:0001168 ! spastic hemiplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0837177
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic xsd:anyURI {source="GARD:0010448"}

[Term]
id: MONDO:0022700
name: cerebral palsy spastic monoplegic
subset: gard_rare
synonym: "spastic monoplegia cerebral palsy" RELATED [GARD:0010446]
synonym: "spastic monoplegic cerebral palsy" RELATED [GARD:0010446]
xref: GARD:0010446 {source="MONDO:equivalentTo"}
is_a: MONDO:0001169 ! spastic monoplegia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic xsd:anyURI {source="GARD:0010446"}

[Term]
id: MONDO:0022712
name: oculo digital syndrome
subset: gard_rare
synonym: "Chemke Oliver Mallek syndrome" RELATED [GARD:0004025]
synonym: "Chemke-Oliver-Mallek syndrome" RELATED [GARD:0004025]
synonym: "multiple ophthalmic anomalies and digital hypoplasia" RELATED [GARD:0004025, MESH:C535922]
xref: GARD:0004025 {source="MONDO:equivalentTo"}
xref: MESH:C535922 {source="MONDO:equivalentTo"}
xref: UMLS:C2931063 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022712"} ! syndromic disease
property_value: closeMatch Orphanet:2711
property_value: exactMatch http://identifiers.org/mesh/C535922
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931063
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome xsd:anyURI {source="GARD:0004025"}

[Term]
id: MONDO:0022714
name: chester porphyria
def: "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP) . Chester porphyria does not conform to any of the recognized types of acute porphyria . The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." [GARD:0010185]
subset: gard_rare
synonym: "PORC" RELATED [GARD:0010185]
synonym: "porphyria, Chester type" RELATED [GARD:0010185]
xref: GARD:0010185 {source="MONDO:equivalentTo"}
is_a: MONDO:0019142 {source="MONDOLEX:0022714"} ! inherited porphyria
property_value: closeMatch http://identifiers.org/omim/176010
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268322
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria xsd:anyURI {source="GARD:0010185"}

[Term]
id: MONDO:0022715
name: Chiari malformation type 3
subset: gard_rare
synonym: "Arnold Chiari malformation type III" RELATED [GARD:0009233]
synonym: "Chiari malformation type III" RELATED [GARD:0009233]
synonym: "Chiari type III malformation" RELATED [GARD:0009233]
xref: GARD:0009233 {source="MONDO:equivalentTo"}
xref: SCTID:253186001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000115 {source="MONDO:cjm", source="linkedlifedata"} ! Chiari malformation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0750931
property_value: exactMatch http://identifiers.org/snomedct/253186001
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 xsd:anyURI {source="GARD:0009233"}

[Term]
id: MONDO:0022716
name: Chiari malformation type 4
subset: gard_rare
synonym: "Arnold Chiari malformation type IV" RELATED [GARD:0009234]
synonym: "Chiari malformation type IV" RELATED [GARD:0009234]
synonym: "Chiari type IV malformation" RELATED [GARD:0009234]
xref: GARD:0009234 {source="MONDO:equivalentTo"}
xref: SCTID:253187005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000115 {source="MONDO:cjm", source="linkedlifedata"} ! Chiari malformation
property_value: exactMatch http://identifiers.org/snomedct/253187005
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 xsd:anyURI {source="GARD:0009234"}

[Term]
id: MONDO:0022723
name: chondrodysplasia
synonym: "chondrodysplasia" EXACT []
xref: SCTID:205465004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/205465004

[Term]
id: MONDO:0022725
name: obsolete chondrodysplasia lethal recessive
comment: This was a duplicate class.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0015425

[Term]
id: MONDO:0022729
name: chondrodysplasia punctata with steroid sulfatase deficiency
subset: gard_rare
xref: GARD:0006050 {source="MONDO:equivalentTo"}
is_a: MONDO:0022723 ! chondrodysplasia
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency xsd:anyURI {source="GARD:0006050"}

[Term]
id: MONDO:0022732
name: chorea minor
subset: gard_rare
xref: GARD:0006057 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0152113
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6057/chorea-minor xsd:anyURI {source="GARD:0006057"}

[Term]
id: MONDO:0022733
name: choreoacanthocytosis amyotrophic
subset: gard_rare
xref: GARD:0001306 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic xsd:anyURI {source="GARD:0001306"}

[Term]
id: MONDO:0022734
name: chorioretinopathy dominant form microcephaly
subset: gard_rare
xref: GARD:0001308 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly xsd:anyURI {source="GARD:0001308"}

[Term]
id: MONDO:0022735
name: choroid plexus cyst
subset: gard_rare
synonym: "choroid plexus cyst" EXACT []
synonym: "CPC - choroid plexus cyst" RELATED []
xref: GARD:0001309 {source="MONDO:equivalentTo"}
xref: SCTID:230790004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005262 {source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cyst (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338597
property_value: exactMatch http://identifiers.org/snomedct/230790004
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst xsd:anyURI {source="GARD:0001309"}

[Term]
id: MONDO:0022736
name: occupational lung disease
synonym: "Occupational inhalation disease" RELATED [UMLS:C0264421]
synonym: "Occupational lung disease" RELATED [UMLS:C0264421]
synonym: "Occupational lung disorder" RELATED [UMLS:C0264421]
synonym: "Occupational pulmonary disease" RELATED [UMLS:C0264421]
synonym: "Occupational respiratory disease" RELATED [UMLS:C0264421]
xref: GARD:0012752 {source="MONDO:equivalentTo"}
xref: ICD9:508.9 {source="linkedlife"}
xref: SCTID:86157004 {source="MONDO:equivalentTo", source="UMLS:C0264421"}
xref: UMLS:C0264421 {source="MONDO:equivalentTo"}
is_a: MONDO:0005275 ! lung disease
property_value: exactMatch http://identifiers.org/snomedct/86157004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264421

[Term]
id: MONDO:0022737
name: choroideremia hypopituitarism
def: "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." []
subset: gard_rare
synonym: "choroideraemia co-occurrent with hypopituitarism" RELATED []
synonym: "choroideraemia hypopituitarism" RELATED []
synonym: "choroideremia co-occurrent with hypopituitarism" RELATED []
synonym: "choroideremia hypopituitarism" EXACT []
xref: GARD:0001312 {source="MONDO:equivalentTo"}
xref: SCTID:715417002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275146 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010557 {source="linkedlifedata"} ! choroideremia
property_value: exactMatch http://identifiers.org/snomedct/715417002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275146
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism xsd:anyURI {source="GARD:0001312"}

[Term]
id: MONDO:0022739
name: Christian demyer franken syndrome
subset: gard_rare
xref: GARD:0001315 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022739"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome xsd:anyURI {source="GARD:0001315"}

[Term]
id: MONDO:0022740
name: Christian Johnson angenieta syndrome
subset: gard_rare
xref: GARD:0001316 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022740"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome xsd:anyURI {source="GARD:0001316"}

[Term]
id: MONDO:0022742
name: occupational asthma
def: "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE." [MESH:D059366]
synonym: "Asthma, Occupational" RELATED [MSH:D059366]
synonym: "Asthmas, Occupational" RELATED [MESH:D059366, MSH:D059366]
synonym: "Industrial asthma" RELATED [UMLS:C0264423]
synonym: "industrial asthma" RELATED []
synonym: "Occupational Asthma" RELATED [MESH:D059366, MSH:D059366]
synonym: "Occupational asthma" RELATED [UMLS:C0264423]
synonym: "occupational asthma" EXACT []
synonym: "Occupational Asthmas" RELATED [MESH:D059366, MSH:D059366]
xref: MESH:D059366 {source="MONDO:equivalentTo", source="UMLS:C0264423"}
xref: SCTID:57607007 {source="MONDO:equivalentTo", source="UMLS:C0264423"}
xref: UMLS:C0264423 {source="MONDO:equivalentTo"}
is_a: MONDO:0004979 {source="MESH:D059366", source="UMLS:C0264423"} ! asthma
property_value: exactMatch http://identifiers.org/mesh/D059366
property_value: exactMatch http://identifiers.org/snomedct/57607007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264423

[Term]
id: MONDO:0022745
name: mixed dust pneumoconiosis
subset: gard_rare
synonym: "labrador lung" RELATED [GARD:0008374]
synonym: "Mixed dust pneumoconiosis" RELATED [UMLS:C0264436]
synonym: "mixed dust pneumoconiosis" EXACT []
xref: GARD:0008374 {source="MONDO:equivalentTo"}
xref: ICD9:504 {source="linkedlife"}
xref: SCTID:32139003 {source="MONDO:equivalentTo", source="UMLS:C0264436"}
xref: UMLS:C0264436 {source="MONDO:equivalentTo", source="GARD:0008374"}
is_a: MONDO:0015926 ! pneumoconiosis
relationship: has_modifier MONDO:0021136 {source="GARD:0008374"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/32139003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264436

[Term]
id: MONDO:0022746
name: chromosome 13p duplication
synonym: "chromosome 13p, trisomy" RELATED [MESH:C535450]
synonym: "Duplication 13p" RELATED [MESH:C535450]
synonym: "trisomy 13p" RELATED [MESH:C535450]
xref: MESH:C535450 {source="MONDO:equivalentTo"}
xref: UMLS:CN037021 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C535450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN037021

[Term]
id: MONDO:0022749
name: non-neoplastic nevus
def: "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." [NCIT:C3937]
synonym: "Non-Neoplastic Nevus" RELATED [NCIT:C3937]
synonym: "Non-neoplastic nevus" RELATED [UMLS:C0265027]
synonym: "non-neoplastic nevus" EXACT [NCIT:C3937]
xref: ICD9:448.1 {source="linkedlife"}
xref: NCIT:C3937 {source="MONDO:equivalentTo", source="UMLS:C0265027"}
xref: SCTID:195381005 {source="MONDO:equivalentTo", source="UMLS:C0265027"}
xref: UMLS:C0265027 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
property_value: exactMatch http://identifiers.org/snomedct/195381005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265027
property_value: exactMatch NCIT:C3937

[Term]
id: MONDO:0022752
name: chromosome 16p13.3 deletion syndrome
synonym: "RSTS, Severe" RELATED [MESH:C566433]
synonym: "Rubinstein-Taybi syndrome, Severe" RELATED [MESH:C566433]
xref: MESH:C566433 {source="MONDO:equivalentTo"}
xref: UMLS:C3502510 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="MESH:C566433/inferred"} ! chromosomal anomaly
is_a: MONDO:0019188 {source="MESH:C566433"} ! Rubinstein-Taybi syndrome
property_value: exactMatch http://identifiers.org/mesh/C566433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3502510

[Term]
id: MONDO:0022754
name: chromosome 17p deletion
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." [NCIT:C36499]
comment: Editor note: check this, MESH says 17
synonym: "17p deletion" RELATED [GARD:0006075]
synonym: "17p monosomy" RELATED [GARD:0006075]
synonym: "17p- syndrome" RELATED [MESH:C538045]
synonym: "chromosome 17p deletion" EXACT [GARD:0006075]
synonym: "chromosome 17p deletion syndrome" RELATED [MESH:C538045]
synonym: "del(17p)" EXACT [NCIT:C36499]
synonym: "deletion 17p" RELATED [GARD:0006075]
synonym: "deletion 17p syndrome" RELATED [MESH:C538045]
synonym: "interstitial deletion 17p" RELATED [MESH:C538045]
synonym: "loss of chromosome 17p" EXACT [NCIT:C36499]
synonym: "monosomy 17p" RELATED [GARD:0006075]
synonym: "partial monosomy 17p" RELATED [MESH:C538045]
xref: GARD:0006075 {source="MONDO:equivalentTo"}
xref: MESH:C538045 {source="MONDO:equivalentTo"}
xref: NCIT:C36499 {source="MONDO:equivalentTo"}
xref: UMLS:CN036220 {source="MONDO:equivalentTo"}
is_a: MONDO:0008434 {source="MESH:C538045"} ! Smith-Magenis syndrome
is_a: MONDO:0020583 {source="NCIT:C36499"} ! chromosome 17 abnormality
property_value: exactMatch http://identifiers.org/mesh/C538045
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036220
property_value: exactMatch NCIT:C36499

[Term]
id: MONDO:0022755
name: chromosome 18 mosaic monosomy
subset: gard_rare
synonym: "monosomy 18 mosaicism" RELATED [GARD:0003726, MESH:C536581]
synonym: "Mosaic monosomy 18" RELATED [GARD:0003726]
synonym: "Mosaic monosomy chromosome 18" RELATED [GARD:0003726]
xref: GARD:0003726 {source="MONDO:equivalentTo"}
xref: MESH:C536581 {source="MONDO:equivalentTo"}
xref: UMLS:CN036727 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931250
property_value: exactMatch http://identifiers.org/mesh/C536581
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036727

[Term]
id: MONDO:0022756
name: chromosome 1q deletion
def: "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0008669]
subset: gard_rare
synonym: "1q deletion" RELATED [GARD:0008669]
synonym: "1q monosomy" RELATED [GARD:0008669]
synonym: "deletion 1q" RELATED [GARD:0008669]
synonym: "monosomy 1q" RELATED [GARD:0008669]
synonym: "partial monosomy 1q" RELATED [GARD:0008669]
xref: GARD:0008669 {source="MONDO:equivalentTo"}
xref: UMLS:CN072190 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN072190
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion xsd:anyURI {source="GARD:0008669"}

[Term]
id: MONDO:0022757
name: chromosome 20 trisomy
def: "Chromosome 20 trisomy, (also called trisomy 20)is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells .An extra full copy ofchromosome 20 in all of a person's cells israre, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence ofan extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown thatthe childis normal in thevast majority of prenatally diagnosed individuals. However, features that have been reportedinclude spinal abnormalities (including spinal stenosis , vertebral fusion, and kyphosis ), hypotonia (decreased muscle tone), lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20usually results from errors in cell division soon after fertilization." [GARD:0005332]
subset: gard_rare
synonym: "mosaic trisomy 20" RELATED [GARD:0005332]
synonym: "trisomy 20" RELATED [GARD:0005332]
synonym: "trisomy 20 mosaicism" RELATED [GARD:0005332]
synonym: "trisomy chromosome 20" RELATED [GARD:0005332]
xref: GARD:0005332 {source="MONDO:equivalentTo"}
xref: MESH:C535372 {source="MONDO:equivalentTo"}
xref: NCIT:C36397 {source="MONDO:equivalentTo"}
xref: UMLS:C0265479 {source="MONDO:equivalentTo", source="GARD:0005332"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C535372
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265479
property_value: exactMatch NCIT:C36397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy xsd:anyURI {source="GARD:0005332"}

[Term]
id: MONDO:0022758
name: chromosome 22, monosome mosaic
synonym: "chromosome 22 mosaic monosomy" RELATED [MESH:C536798]
synonym: "Mosaic monosome 22" RELATED [MESH:C536798]
xref: MESH:C536798 {source="MONDO:equivalentTo"}
xref: UMLS:CN036765 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="MESH:C536798"} ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C536798
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036765

[Term]
id: MONDO:0022759
name: trisomy 22
def: "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate , hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease , genital abnormalities, and intrauterine growth restriction (IUGR)." [GARD:0005335]
subset: gard_rare
synonym: "chromosome 22 trisomy" RELATED [GARD:0005335]
xref: GARD:0005335 {source="MONDO:equivalentTo"}
xref: MESH:C536799 {source="MONDO:equivalentTo"}
xref: SCTID:205655003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265490 {source="GARD:0005335", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="linkedlifedata/inferred"} ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C536799
property_value: exactMatch http://identifiers.org/snomedct/205655003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265490
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 xsd:anyURI {source="GARD:0005335"}

[Term]
id: MONDO:0022760
name: chromosome 22q deletion
subset: gard_rare
synonym: "22q deletion" RELATED [GARD:0008668]
synonym: "22q monosomy" RELATED [GARD:0008668]
synonym: "deletion 22q" RELATED [GARD:0008668]
synonym: "monosomy 22q" RELATED [GARD:0008668]
synonym: "partial monosomy 22q" RELATED [GARD:0008668]
xref: GARD:0008668 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion xsd:anyURI {source="GARD:0008668"}

[Term]
id: MONDO:0022761
name: chromosome 3 duplication syndrome
xref: MESH:C536803 {source="MONDO:equivalentTo"}
xref: UMLS:C2931333 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022761"} ! syndromic disease
is_a: MONDO:0019040 {source="MESH:C536803"} ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C536803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931333

[Term]
id: MONDO:0022762
name: chromosome 4 short arm deletion
synonym: "4p deletion" RELATED [GARD:0006090]
synonym: "4p monosomy" RELATED [GARD:0006090]
synonym: "chromosome 4p deletion" RELATED [MESH:C537637]
synonym: "deletion 4p" RELATED [MESH:C537637]
synonym: "monosomy 4p" RELATED [MESH:C537637]
synonym: "partial monosomy 4p" RELATED [GARD:0006090]
xref: GARD:0006090 {source="MONDO:equivalentTo"}
xref: ICD10:Q93.3 {source="MONDO:equivalentTo"}
xref: MESH:C537637 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: exactMatch http://identifiers.org/mesh/C537637

[Term]
id: MONDO:0022765
name: chronic demyelinizing neuropathy with IgM monoclonal
subset: gard_rare
xref: GARD:0001352 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal xsd:anyURI {source="GARD:0001352"}

[Term]
id: MONDO:0022768
name: chronic polyradiculoneuritis
subset: gard_rare
xref: GARD:0001355 {source="MONDO:equivalentTo"}
is_a: MONDO:0006915 ! polyradiculoneuropathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis xsd:anyURI {source="GARD:0001355"}

[Term]
id: MONDO:0022769
name: ciliary dyskinesia-bronchiectasis
subset: gard_rare
xref: GARD:0001362 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis xsd:anyURI {source="GARD:0001362"}

[Term]
id: MONDO:0022770
name: circumscribed cutaneous aplasia of the vertex
subset: gard_rare
xref: GARD:0001365 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex xsd:anyURI {source="GARD:0001365"}

[Term]
id: MONDO:0022771
name: circumscribed disseminated keratosis Jadassohn lew type
subset: gard_rare
xref: GARD:0001366 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type xsd:anyURI {source="GARD:0001366"}

[Term]
id: MONDO:0022772
name: classic Kaposi sarcoma
def: "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." [NCIT:C9112]
synonym: "classic Kaposi sarcoma" EXACT [NCIT:C9112]
synonym: "classic Kaposi's sarcoma" EXACT [NCIT:C9112]
synonym: "Kaposi sarcoma classical type" EXACT [NCIT:C9112]
synonym: "Kaposi sarcoma, classic" EXACT [NCIT:C9112]
synonym: "Kaposi's sarcoma, classical type" EXACT [NCIT:C9112]
xref: NCIT:C9112 {source="MONDO:equivalentTo"}
xref: UMLS:C0279084 {source="NCIT:C9112", source="MONDO:equivalentTo"}
is_a: MONDO:0005055 {source="NCIT:C9112/inferred"} ! Kaposi's sarcoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279084
property_value: exactMatch NCIT:C9112

[Term]
id: MONDO:0022775
name: cleft lip and palate malrotation cardiopathy
subset: gard_rare
xref: GARD:0001371 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy xsd:anyURI {source="GARD:0001371"}

[Term]
id: MONDO:0022776
name: cleft lip and/or palate with mucous cysts of lower
subset: gard_rare
xref: GARD:0001372 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower xsd:anyURI {source="GARD:0001372"}

[Term]
id: MONDO:0022777
name: cleft lip palate dysmorphism kumar type
subset: gard_rare
xref: GARD:0001375 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type xsd:anyURI {source="GARD:0001375"}

[Term]
id: MONDO:0022778
name: cleft lip palate mental retardation corneal opacity
subset: gard_rare
xref: GARD:0001380 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity xsd:anyURI {source="GARD:0001380"}

[Term]
id: MONDO:0022779
name: cleft lip palate oligodontia syndactyly pili torti
subset: gard_rare
xref: GARD:0001381 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti xsd:anyURI {source="GARD:0001381"}

[Term]
id: MONDO:0022780
name: cleft lip palate pituitary deficiency
subset: gard_rare
xref: GARD:0001382 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency xsd:anyURI {source="GARD:0001382"}

[Term]
id: MONDO:0022781
name: cleft lip palate-tetraphocomelia
subset: gard_rare
xref: GARD:0001383 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia xsd:anyURI {source="GARD:0001383"}

[Term]
id: MONDO:0022782
name: cleft lower lip cleft lateral canthi chorioretinal
subset: gard_rare
xref: GARD:0001386 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal xsd:anyURI {source="GARD:0001386"}

[Term]
id: MONDO:0022785
name: cleft palate cardiac defect ectrodactyly
subset: gard_rare
xref: GARD:0001387 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly xsd:anyURI {source="GARD:0001387"}

[Term]
id: MONDO:0022786
name: cleft palate colobomata radial synostosis deafness
subset: gard_rare
xref: GARD:0001388 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness xsd:anyURI {source="GARD:0001388"}

[Term]
id: MONDO:0022787
name: cleft palate heart disease polydactyly absent tibia
subset: gard_rare
xref: GARD:0001389 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia xsd:anyURI {source="GARD:0001389"}

[Term]
id: MONDO:0022790
name: cleft tongue
subset: gard_rare
synonym: "bifid tongue" RELATED [GARD:0001395]
synonym: "cleft tongue syndrome" RELATED [GARD:0001395]
xref: GARD:0001395 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022790"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/test
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue xsd:anyURI {source="GARD:0001395"}

[Term]
id: MONDO:0022791
name: coarse face hypotonia constipation
subset: gard_rare
synonym: "Sondheimer syndrome" RELATED [GARD:0001412]
xref: GARD:0001412 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022791"} ! syndromic disease
property_value: closeMatch Orphanet:1967
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation xsd:anyURI {source="GARD:0001412"}

[Term]
id: MONDO:0022792
name: coccygodynia
def: "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." [GARD:0005168]
subset: gard_rare
synonym: "coccydynia" RELATED [GARD:0005168]
xref: GARD:0005168 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0021668 ! disorder involving pain
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009193
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5168/coccygodynia xsd:anyURI {source="GARD:0005168"}

[Term]
id: MONDO:0022794
name: chromosome 8 deletion
def: "A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." [NCIT:C36535]
synonym: "Anomaly of chromosome pair 8" RELATED [GARD:0012070, UMLS:C0265418]
synonym: "chromosome 8 deletion" EXACT [NCIT:C36535]
synonym: "del(8)" EXACT [NCIT:C36535]
synonym: "Deletions of chromosome 8" RELATED [MESH:C537823]
synonym: "loss of chromosome 8" EXACT [NCIT:C36535]
xref: GARD:0012070 {source="MONDO:equivalentTo"}
xref: MESH:C537823 {source="MONDO:equivalentTo"}
xref: NCIT:C36535 {source="MONDO:equivalentTo"}
xref: UMLS:C0265418 {source="MONDO:equivalentTo", source="GARD:0012070"}
is_a: MONDO:0020639 {source="MESH:C537823"} ! monosomy
property_value: closeMatch http://identifiers.org/snomedct/48082007
property_value: exactMatch http://identifiers.org/mesh/C537823
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265418
property_value: exactMatch NCIT:C36535

[Term]
id: MONDO:0022795
name: deficiency of coenzyme q cytochrome c reductase
subset: gard_rare
synonym: "coenzyme Q cytochrome c reductase deficiency of" RELATED [GARD:0001419]
xref: GARD:0001419 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of xsd:anyURI {source="GARD:0001419"}

[Term]
id: MONDO:0022798
name: Cohen lockood wyborney syndrome
subset: gard_rare
xref: GARD:0001423 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022798"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome xsd:anyURI {source="GARD:0001423"}

[Term]
id: MONDO:0022799
name: cold urticaria
def: "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts ( hives ) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease . Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." [GARD:0006131]
subset: gard_rare
synonym: "cold contact urticaria" RELATED [GARD:0006131]
synonym: "primary idiopathic cold urticaria" RELATED [GARD:0006131]
synonym: "urticaria idiopathic cold" RELATED [GARD:0006131]
xref: EFO:1001881 {source="MONDO:equivalentTo"}
xref: GARD:0006131 {source="MONDO:equivalentTo"}
xref: SCTID:74774004 {source="MONDO:equivalentTo"}
xref: UMLS:C0221207 {source="MONDO:equivalentTo"}
is_a: MONDO:0005492 {source="EFO:1001881", source="linkedlifedata"} ! urticaria (disease)
property_value: exactMatch http://identifiers.org/snomedct/74774004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221207
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria xsd:anyURI {source="GARD:0006131"}

[Term]
id: MONDO:0022800
name: collagenopathy type 2 alpha 1
def: "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: TODO merge with ordo class or obsolete
subset: gard_rare
synonym: "cartilage collagen" RELATED [GARD:0009246]
synonym: "COL2A1" RELATED [GARD:0009246]
synonym: "COL2A1 disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "collagen II" RELATED [GARD:0009246]
synonym: "disease or disorder caused by mutation in COL2A1" EXACT []
xref: GARD:0009246 {source="MONDO:equivalentTo"}
xref: HGNC:2200 {source="GARD:0009246"}
xref: MESH:C535964 {source="MONDO:equivalentTo"}
xref: UMLS:C2931073 {source="MONDO:equivalentTo", source="GARD:0009246"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931073
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 xsd:anyURI {source="GARD:0009246"}

[Term]
id: MONDO:0022802
name: Collins-Sakati syndrome
subset: gard_rare
synonym: "Collins Sakati syndrome" RELATED [GARD:0001429]
xref: GARD:0001429 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022802"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome xsd:anyURI {source="GARD:0001429"}

[Term]
id: MONDO:0022803
name: coloboma porencephaly hydronephrosis
subset: gard_rare
xref: GARD:0001439 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis xsd:anyURI {source="GARD:0001439"}

[Term]
id: MONDO:0022804
name: colobomata unilobar lung heart defect
subset: gard_rare
xref: GARD:0001442 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect xsd:anyURI {source="GARD:0001442"}

[Term]
id: MONDO:0022805
name: colonic malakoplakia
subset: gard_rare
xref: GARD:0006137 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia xsd:anyURI {source="GARD:0006137"}

[Term]
id: MONDO:0022809
name: Colver Steer Godman syndrome
subset: gard_rare
xref: GARD:0001448 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022809"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome xsd:anyURI {source="GARD:0001448"}

[Term]
id: MONDO:0022810
name: Combarros Calleja Leno syndrome
subset: gard_rare
xref: GARD:0001449 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022810"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome xsd:anyURI {source="GARD:0001449"}

[Term]
id: MONDO:0022812
name: complement receptor deficiency
def: "A disorder with basis in disruption of a complement receptor." [MONDO:cjm]
subset: gard_rare
synonym: "complement receptor deficiency" EXACT []
xref: GARD:0009527 {source="MONDO:equivalentTo"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:234628004 {source="MONDO:equivalentTo"}
xref: UMLS:C0398783 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009527", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease
is_a: MONDO:0003832 {source="linkedlifedata"} ! complement deficiency
is_a: MONDO:0044977 ! disease of receptor activity
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch http://identifiers.org/snomedct/234628004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398783
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency xsd:anyURI {source="GARD:0009527"}

[Term]
id: MONDO:0022815
name: congenital absence of the sternocleidomastoid muscle
subset: gard_rare
xref: GARD:0009972 {source="MONDO:equivalentTo"}
xref: MESH:C535977 {source="MONDO:equivalentTo"}
xref: UMLS:C2931075 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009972"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535977
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931075
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle xsd:anyURI {source="GARD:0009972"}

[Term]
id: MONDO:0022817
name: congenital amputation
subset: gard_rare
xref: GARD:0001471 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857583
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation xsd:anyURI {source="GARD:0001471"}

[Term]
id: MONDO:0022818
name: congenital aneurysms of the great vessels
subset: gard_rare
xref: GARD:0001472 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels xsd:anyURI {source="GARD:0001472"}

[Term]
id: MONDO:0022819
name: congenital arteriovenous shunt
subset: gard_rare
xref: GARD:0006150 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0332965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt xsd:anyURI {source="GARD:0006150"}

[Term]
id: MONDO:0022820
name: congenital articular rigidity
subset: gard_rare
xref: GARD:0001473 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0595987
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity xsd:anyURI {source="GARD:0001473"}

[Term]
id: MONDO:0022821
name: congenital benign spinal muscular atrophy dominant
subset: gard_rare
xref: GARD:0001474 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant xsd:anyURI {source="GARD:0001474"}

[Term]
id: MONDO:0022822
name: congenital cardiovascular shunt
subset: gard_rare
xref: GARD:0006154 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0596366
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt xsd:anyURI {source="GARD:0006154"}

[Term]
id: MONDO:0022823
name: congenital contractures
subset: gard_rare
xref: GARD:0001477 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0332878
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures xsd:anyURI {source="GARD:0001477"}

[Term]
id: MONDO:0022824
name: congenital craniosynostosis maternal hyperthyroiditis
subset: gard_rare
xref: GARD:0001478 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis xsd:anyURI {source="GARD:0001478"}

[Term]
id: MONDO:0022825
name: congenital cystic eye
subset: gard_rare
subset: ordo_morphological_anomaly
synonym: "CCE" RELATED [GARD:0010617]
xref: GARD:0010617 {source="MONDO:equivalentTo"}
xref: Orphanet:519384 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch Orphanet:519384
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye xsd:anyURI {source="GARD:0010617"}

[Term]
id: MONDO:0022826
name: congenital cystic eye multiple ocular and intracranial anomalies
subset: gard_rare
xref: GARD:0001479 {source="MONDO:equivalentTo"}
is_a: MONDO:0022825 ! congenital cystic eye
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies xsd:anyURI {source="GARD:0001479"}

[Term]
id: MONDO:0022831
name: congenital heart disease ptosis hypodontia craniostosis
subset: gard_rare
xref: GARD:0001483 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis xsd:anyURI {source="GARD:0001483"}

[Term]
id: MONDO:0022832
name: congenital heart disease radio ulnar synostosis mental retardation
subset: gard_rare
xref: GARD:0001484 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation xsd:anyURI {source="GARD:0001484"}

[Term]
id: MONDO:0022839
name: congenital human immunodeficiency virus
subset: gard_rare
synonym: "congenital HIV" RELATED [GARD:0010328]
synonym: "neonatal HIV" RELATED [GARD:0010328]
synonym: "neonatal human immunodeficiency virus" RELATED [GARD:0010328]
xref: GARD:0010328 {source="MONDO:equivalentTo"}
xref: UMLS:C0520783 {source="MONDO:equivalentTo"}
is_a: MONDO:0005109 ! HIV infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520783
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus xsd:anyURI {source="GARD:0010328"}

[Term]
id: MONDO:0022841
name: congenital hypotrichosis milia
subset: gard_rare
xref: GARD:0001488 {source="MONDO:equivalentTo"}
is_a: MONDO:0003037 {source="MONDO:cjm"} ! hypotrichosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia xsd:anyURI {source="GARD:0001488"}

[Term]
id: MONDO:0022843
name: congenital mumps
subset: gard_rare
xref: GARD:0001498 {source="MONDO:equivalentTo"}
is_a: MONDO:0000989 ! mumps infectious disease
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps xsd:anyURI {source="GARD:0001498"}

[Term]
id: MONDO:0022846
name: congenital nonhemolytic jaundice
subset: gard_rare
xref: GARD:0006177 {source="MONDO:equivalentTo"}
is_a: MONDO:0010634 ! jaundice, familial obstructive, of infancy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017551
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice xsd:anyURI {source="GARD:0006177"}

[Term]
id: MONDO:0022849
name: congenital stenosis of cervical medullary canal
subset: gard_rare
xref: GARD:0001504 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal xsd:anyURI {source="GARD:0001504"}

[Term]
id: MONDO:0022850
name: obsolete congenital sucrose isomaltose malabsorption
is_obsolete: true
replaced_by: MONDO:0009114

[Term]
id: MONDO:0022851
name: Dennis-Fairhurst-Moore syndrome
def: "A severe form of Hallermann-Streiff syndrome, observed in one family." [PMID:8585575]
subset: gard_rare
subset: n_of_one
synonym: "Dennis Fairhurst Moore syndrome" RELATED [GARD:0000290]
synonym: "Hallermam Streiff like syndrome" RELATED [GARD:0000290, MESH:C538210]
xref: GARD:0000290 {source="MONDO:equivalentTo"}
xref: MESH:C538210 {source="MONDO:equivalentTo"}
xref: Orphanet:2109 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022851"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0009318 {source="MESH:C538210"} ! Hallermann-Streiff syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931775
property_value: exactMatch http://identifiers.org/mesh/C538210
property_value: exactMatch Orphanet:2109
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome xsd:anyURI {source="GARD:0000290"}

[Term]
id: MONDO:0022854
name: congenital unilateral pulmonary hypoplasia
subset: gard_rare
xref: GARD:0001507 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia xsd:anyURI {source="GARD:0001507"}

[Term]
id: MONDO:0022855
name: congenital vagal hyperreflexivity
subset: gard_rare
xref: GARD:0001508 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity xsd:anyURI {source="GARD:0001508"}

[Term]
id: MONDO:0022857
name: obsolete continuous muscle fiber activity hereditary
is_obsolete: true
replaced_by: MONDO:0019943

[Term]
id: MONDO:0022858
name: continuous spike-wave during slow sleep syndrome
subset: gard_rare
xref: GARD:0001513 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022858"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome xsd:anyURI {source="GARD:0001513"}

[Term]
id: MONDO:0022859
name: cor biloculare
def: "A congenital anatomic anomaly in which the heart has only two chambers." [NCIT:C124591]
subset: gard_rare
synonym: "absence of atrial and ventricular septa" RELATED []
synonym: "Cor Biloculare" EXACT [NCIT:C124591]
synonym: "cor biloculare" EXACT []
synonym: "TWO-chambered heart" EXACT [NCIT:C124591]
xref: GARD:0006193 {source="MONDO:equivalentTo"}
xref: ICD9:745.7 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C124591 {source="MONDO:equivalentTo"}
xref: SCTID:81990004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152238 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C124591", source="MONDO:equivalentTo", source="GARD:0006193"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C124591/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease
property_value: exactMatch http://identifiers.org/snomedct/81990004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152238
property_value: exactMatch NCIT:C124591
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare xsd:anyURI {source="GARD:0006193"}

[Term]
id: MONDO:0022862
name: cormier rustin munnich syndrome
subset: gard_rare
xref: GARD:0001523 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022862"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome xsd:anyURI {source="GARD:0001523"}

[Term]
id: MONDO:0022863
name: corneal crystals myopathy neuropathy
subset: gard_rare
xref: GARD:0001526 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy xsd:anyURI {source="GARD:0001526"}

[Term]
id: MONDO:0022865
name: corneal dystrophy ichthyosis microcephaly mental retardation
subset: gard_rare
xref: GARD:0001528 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation xsd:anyURI {source="GARD:0001528"}

[Term]
id: MONDO:0022866
name: corneal dystrophy pigmentary anomaly malabsorption
subset: gard_rare
xref: GARD:0001530 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption xsd:anyURI {source="GARD:0001530"}

[Term]
id: MONDO:0022869
name: coronary arteries congenital malformation
subset: gard_rare
xref: GARD:0001534 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158623
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation xsd:anyURI {source="GARD:0001534"}

[Term]
id: MONDO:0022871
name: corpus callosum agenesis of blepharophimosis robin type
subset: gard_rare
xref: GARD:0001538 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0005560 ! brain disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type xsd:anyURI {source="GARD:0001538"}

[Term]
id: MONDO:0022872
name: corpus callosum dysgenesis X-linked recessive
subset: gard_rare
xref: GARD:0001543 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0005560 ! brain disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive xsd:anyURI {source="GARD:0001543"}

[Term]
id: MONDO:0022873
name: corpus callosum dysgenesis cleft spasm
subset: gard_rare
xref: GARD:0001541 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0005560 ! brain disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm xsd:anyURI {source="GARD:0001541"}

[Term]
id: MONDO:0022874
name: corpus callosum dysgenesis hypopituitarism
subset: gard_rare
xref: GARD:0001542 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0005560 ! brain disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism xsd:anyURI {source="GARD:0001542"}

[Term]
id: MONDO:0022875
name: cortada Koussef Matsumoto syndrome
subset: gard_rare
xref: GARD:0001546 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022875"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome xsd:anyURI {source="GARD:0001546"}

[Term]
id: MONDO:0022876
name: Cortes Lacassie syndrome
subset: gard_rare
xref: GARD:0001547 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022876"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome xsd:anyURI {source="GARD:0001547"}

[Term]
id: MONDO:0022880
name: corticobasal degeneration
synonym: "cortical basal ganglionic degeneration" RELATED []
synonym: "corticobasal degeneration" EXACT []
synonym: "corticodentatonigral degeneration with neuronal achromasia" RELATED []
xref: SCTID:18842008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0024238 {source="linkedlifedata"} ! cerebral degeneration
property_value: exactMatch http://identifiers.org/snomedct/18842008

[Term]
id: MONDO:0022883
name: craniofacial and skeletal defects
subset: gard_rare
xref: GARD:0001570 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects xsd:anyURI {source="GARD:0001570"}

[Term]
id: MONDO:0022884
name: craniofacial dysostosis arthrogryposis progeroid appearence
subset: gard_rare
synonym: "Van Biervliet Hendrickx Van Ertbruggen syndrome" RELATED [GARD:0001573]
xref: GARD:0001573 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022884"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence xsd:anyURI {source="GARD:0001573"}

[Term]
id: MONDO:0022887
name: craniofrontonasal syndrome Teebi type
subset: gard_rare
xref: GARD:0001579 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022887"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type xsd:anyURI {source="GARD:0001579"}

[Term]
id: MONDO:0022888
name: craniostenosis cataract
subset: gard_rare
xref: GARD:0001584 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 ! cataract (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract xsd:anyURI {source="GARD:0001584"}

[Term]
id: MONDO:0022889
name: craniostenosis with congenital heart disease mental retardation
subset: gard_rare
xref: GARD:0001585 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation xsd:anyURI {source="GARD:0001585"}

[Term]
id: MONDO:0022890
name: craniosynostosis Fontaine type
subset: gard_rare
xref: GARD:0001595 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022890"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type xsd:anyURI {source="GARD:0001595"}

[Term]
id: MONDO:0022891
name: craniosynostosis Maroteaux Fonfria type
subset: gard_rare
xref: GARD:0001598 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022891"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type xsd:anyURI {source="GARD:0001598"}

[Term]
id: MONDO:0022892
name: craniosynostosis alopecia brain defect
subset: gard_rare
xref: GARD:0001586 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022892"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect xsd:anyURI {source="GARD:0001586"}

[Term]
id: MONDO:0022893
name: craniosynostosis arthrogryposis cleft palate
subset: gard_rare
xref: GARD:0001587 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022893"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate xsd:anyURI {source="GARD:0001587"}

[Term]
id: MONDO:0022894
name: craniosynostosis autosomal dominant
subset: gard_rare
xref: GARD:0001588 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022894"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant xsd:anyURI {source="GARD:0001588"}

[Term]
id: MONDO:0022895
name: craniosynostosis cleft lip palate arthrogryposis
subset: gard_rare
xref: GARD:0001590 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022895"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis xsd:anyURI {source="GARD:0001590"}

[Term]
id: MONDO:0022896
name: craniosynostosis contractures cleft
subset: gard_rare
xref: GARD:0001591 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022896"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft xsd:anyURI {source="GARD:0001591"}

[Term]
id: MONDO:0022897
name: craniosynostosis exostoses nevus epibulbar dermoid
subset: gard_rare
xref: GARD:0001593 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022897"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid xsd:anyURI {source="GARD:0001593"}

[Term]
id: MONDO:0022898
name: craniosynostosis mental retardation heart defects
subset: gard_rare
xref: GARD:0001600 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0022898"} ! craniosynostosis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects xsd:anyURI {source="GARD:0001600"}

[Term]
id: MONDO:0022899
name: crawfurd syndrome
subset: gard_rare
xref: GARD:0001607 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022899"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome xsd:anyURI {source="GARD:0001607"}

[Term]
id: MONDO:0022900
name: athyreotic congenital hypothyroidism
def: "congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" [https://en.wikipedia.org/wiki/Congenital_hypothyroidism]
subset: gard_rare
synonym: "cretinism athyreotic" RELATED DEPRECATED [GARD:0001610]
xref: GARD:0001610 {source="MONDO:equivalentTo"}
is_a: MONDO:0015778 ! syndromic hypothyroidism
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic xsd:anyURI {source="GARD:0001610"}

[Term]
id: MONDO:0022901
name: Crohn disease of the esophagus
def: "An Crohn disease involving a pathogenic inflammatory response in the esophagus." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare
synonym: "Crohn's disease of the esophagus" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: GARD:0000203 {source="MONDO:equivalentTo"}
xref: UMLS:C0341116 {source="MONDO:equivalentTo", source="GARD:0000203"}
is_a: MONDO:0001409 ! esophagitis (disease)
is_a: MONDO:0005011 ! Crohn disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341116

[Term]
id: MONDO:0022904
name: cryofibrinogenemia
subset: gard_rare
synonym: "cryofibrinogenemia" EXACT []
xref: GARD:0009908 {source="MONDO:equivalentTo"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C536218 {source="MONDO:equivalentTo"}
xref: SCTID:10934005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272263 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009908"}
is_a: MONDO:0005576 {source="MESH:C536218"} ! cryoglobulinemia
property_value: exactMatch http://identifiers.org/mesh/C536218
property_value: exactMatch http://identifiers.org/snomedct/10934005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272263
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia xsd:anyURI {source="GARD:0009908"}

[Term]
id: MONDO:0022907
name: cutaneous sclerosis
subset: gard_rare
xref: GARD:0009752 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis xsd:anyURI {source="GARD:0009752"}

[Term]
id: MONDO:0022908
name: cutis gyratum acanthosis nigricans craniosynostosis
subset: gard_rare
xref: GARD:0001635 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis xsd:anyURI {source="GARD:0001635"}

[Term]
id: MONDO:0022909
name: cutis laxa osteoporosis
subset: gard_rare
xref: GARD:0001637 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis xsd:anyURI {source="GARD:0001637"}

[Term]
id: MONDO:0022912
name: cutis verticis gyrata mental deficiency
subset: gard_rare
xref: GARD:0001644 {source="MONDO:equivalentTo"}
is_a: MONDO:0019033 ! primary cutis verticis gyrata
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency xsd:anyURI {source="GARD:0001644"}

[Term]
id: MONDO:0022913
name: cutler bass Romshe syndrome
subset: gard_rare
xref: GARD:0001646 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022913"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome xsd:anyURI {source="GARD:0001646"}

[Term]
id: MONDO:0022916
name: cystic hygroma lethal cleft palate
subset: gard_rare
synonym: "Cowchock Wapner Kurtz syndrome" RELATED [GARD:0001653]
xref: GARD:0001653 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022916"} ! syndromic disease
relationship: disease_has_feature MONDO:0009761 ! cystic hygroma
relationship: disease_has_feature MONDO:0016064 ! cleft palate
property_value: closeMatch Orphanet:2193
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate xsd:anyURI {source="GARD:0001653"}

[Term]
id: MONDO:0022918
name: cytokine deficiency
def: "A disease that has its basis in the disruption of cytokine activity." [MONDO:patterns/basis_in_disruption_of_process]
comment: Editor note: todo, align
subset: gard_rare
synonym: "cytokine activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cytokine activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cytokine activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: GARD:0009529 {source="MONDO:equivalentTo"}
is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted
is_a: MONDO:0044980 ! disease of signal transduction

[Term]
id: MONDO:0022919
name: cytokine receptor deficiency
def: "A disease that has its basis in the disruption of cytokine receptor activity." [MONDO:patterns/basis_in_disruption_of_process]
comment: Editor note: todo, align
subset: gard_rare
synonym: "cytokine receptor activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cytokine receptor activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cytokine receptor activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: GARD:0009530 {source="MONDO:equivalentTo"}
is_a: MONDO:0044977 ! disease of receptor activity
is_a: MONDO:0044980 ! disease of signal transduction
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency xsd:anyURI {source="GARD:0009530"}

[Term]
id: MONDO:0022921
name: obsolete short stature-microcephaly-heart defect syndrome
comment: Editor note: obsolete in ORDO yet not obsolete in main orphanet website [2018-01-09]
subset: gard_rare
synonym: "d'ercole syndrome" RELATED [GARD:0000233, Orphanet:2861]
synonym: "short stature microcephaly heart defect" RELATED [GARD:0000233]
xref: GARD:0000233 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch Orphanet:2861
is_obsolete: true
replaced_by: Orphanet:98464

[Term]
id: MONDO:0022926
name: daentl towsend Siegel syndrome
subset: gard_rare
synonym: "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" RELATED [GARD:0000236, MESH:C535768]
synonym: "hydrocephalus blue sclera nephropathy" RELATED [GARD:0000236, MESH:C535768]
xref: GARD:0000236 {source="MONDO:equivalentTo"}
xref: MESH:C535768 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022926"} ! syndromic disease
relationship: disease_has_feature MONDO:0001150 {source="MESH:C535768"} ! hydrocephalus
relationship: disease_has_feature MONDO:0001269 {source="MESH:C535768"} ! scleral disease
relationship: disease_has_feature MONDO:0005334 {source="MESH:C535768"} ! hereditary nephritis
property_value: exactMatch http://identifiers.org/mesh/C535768
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome xsd:anyURI {source="GARD:0000236"}

[Term]
id: MONDO:0022930
name: dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
subset: gard_rare
synonym: "Aughton sloan Milad syndrome" RELATED [GARD:0000137]
xref: GARD:0000137 {source="MONDO:equivalentTo"}
xref: MESH:C538340 {source="MONDO:equivalentTo"}
xref: UMLS:C2931823 {source="MONDO:equivalentTo", source="GARD:0000137"}
is_a: MONDO:0017121 {source="MONDO:cjm"} ! syndrome with a Dandy-Walker malformation as major feature
property_value: exactMatch http://identifiers.org/mesh/C538340
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931823
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia xsd:anyURI {source="GARD:0000137"}

[Term]
id: MONDO:0022932
name: davenport-Donlan syndrome
def: "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis." [PMID:526579]
comment: Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579
subset: gard_rare
subset: n_of_one
synonym: "davenport Donlan syndrome" RELATED [GARD:0001672]
synonym: "dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" RELATED [GARD:0001672, MESH:C535988, PMID:526579]
xref: GARD:0001672 {source="MONDO:equivalentTo"}
xref: MESH:C535988 {source="MONDO:equivalentTo"}
xref: Orphanet:3215 {source="GARD:0001672", source="MONDO:equivalentTo"}
xref: UMLS:C2931076 {source="GARD:0001672", source="MONDO:equivalentTo"}
is_a: MONDO:0019589 {source="PMID:526579"} ! syndromic genetic deafness
relationship: disease_has_feature MONDO:0002363 {source="MESH:C535988"} ! papilloma
relationship: disease_has_feature MONDO:0002531 {source="MESH:C535988"} ! skin neoplasm
relationship: disease_has_feature MONDO:0005307 {source="MESH:C535988"} ! contracture
property_value: exactMatch http://identifiers.org/mesh/C535988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931076
property_value: exactMatch Orphanet:3215
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome xsd:anyURI {source="GARD:0001672"}

[Term]
id: MONDO:0022934
name: Davis Lafer syndrome
subset: gard_rare
synonym: "Lafer Davis syndrome" RELATED [GARD:0001674, MESH:C535989]
synonym: "mental retardation unusual facies Davis Lafer type" RELATED [GARD:0001674, MESH:C535989]
xref: GARD:0001674 {source="MONDO:equivalentTo"}
xref: MESH:C535989 {source="MONDO:equivalentTo"}
xref: UMLS:C2931077 {source="GARD:0001674", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C535989
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931077
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome xsd:anyURI {source="GARD:0001674"}

[Term]
id: MONDO:0022936
name: de Hauwere Leroy adriaenssens syndrome
synonym: "iris dysplasia, orbital hypertelorism, and psychomotor retardation" RELATED [MESH:C535991]
xref: MESH:C535991 {source="MONDO:equivalentTo"}
xref: UMLS:C2931078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022936"} ! syndromic disease
relationship: disease_has_feature MONDO:0002289 {source="MESH:C535991"} ! iris disease
relationship: disease_has_feature MONDO:0007778 {source="MESH:C535991"} ! hypertelorism (disease)
property_value: exactMatch http://identifiers.org/mesh/C535991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931078

[Term]
id: MONDO:0022937
name: deafness conductive stapedial ear malformation facial palsy
subset: gard_rare
xref: GARD:0001684 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852292
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy xsd:anyURI {source="GARD:0001684"}

[Term]
id: MONDO:0022938
name: deafness goiter stippled epiphyses
subset: gard_rare
xref: GARD:0001689 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses xsd:anyURI {source="GARD:0001689"}

[Term]
id: MONDO:0022939
name: deafness hyperuricemia neurologic ataxia
subset: gard_rare
synonym: "deafness hyperuricemia neurologic ataxia" EXACT [MONDO:0022940]
xref: GARD:0001690 {source="MONDO:equivalentTo"}
xref: HGNC:9462 {source="MONDO:gene", source="GARD:0001690"}
xref: MESH:C535995 {source="MONDO:equivalentTo"}
xref: UMLS:C2931079 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0001690"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
is_a: MONDO:0019052 {source="MESH:C535995"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C535995
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931079
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1690/deafness-hyperuricemia-neurologic-ataxia xsd:anyURI {source="GARD:0001690"}

[Term]
id: MONDO:0022940
name: obsolete deafness hyperuricemia neurologic ataxia
is_obsolete: true
replaced_by: MONDO:0022939

[Term]
id: MONDO:0022941
name: deafness hypospadias metacarpal and metatarsal syndrome
subset: gard_rare
xref: GARD:0001692 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022941"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome xsd:anyURI {source="GARD:0001692"}

[Term]
id: MONDO:0022942
name: deafness mesenteric diverticula of small bowel neuropathy
subset: gard_rare
xref: GARD:0001693 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy xsd:anyURI {source="GARD:0001693"}

[Term]
id: MONDO:0022945
name: deafness peripheral neuropathy arterial disease
subset: gard_rare
xref: GARD:0001701 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease xsd:anyURI {source="GARD:0001701"}

[Term]
id: MONDO:0022946
name: deafness progressive cataract autosomal dominant
subset: gard_rare
xref: GARD:0001702 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant xsd:anyURI {source="GARD:0001702"}

[Term]
id: MONDO:0022948
name: deal barratt dillon syndrome
synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea" RELATED [MESH:C538206]
xref: MESH:C538206 {source="MONDO:equivalentTo"}
xref: UMLS:C2931773 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="MESH:C538206", source="MONDOLEX:0022948"} ! Fanconi renotubular syndrome
relationship: disease_has_feature MONDO:0019269 {source="MESH:C538206"} ! ichthyosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C538206
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931773

[Term]
id: MONDO:0022949
name: defective apolipoprotein b-100
subset: gard_rare
xref: GARD:0001720 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100 xsd:anyURI {source="GARD:0001720"}

[Term]
id: MONDO:0022953
name: delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
def: "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." [MONDO:patterns/basis_in_disruption_of_process]
subset: gard_rare
synonym: "1-pyrroline-5-carboxylate dehydrogenase activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: GARD:0001798 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency xsd:anyURI {source="GARD:0001798"}

[Term]
id: MONDO:0022960
name: dermatocardioskeletal syndrome boronne type
subset: gard_rare
xref: GARD:0001812 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022960"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type xsd:anyURI {source="GARD:0001812"}

[Term]
id: MONDO:0022963
name: desmoplastic infantile astrocytoma
def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C9476]
subset: gard_rare
synonym: "Desmoplastic astrocytoma of infancy" EXACT [NCIT:C9476]
synonym: "Desmoplastic infantile astrocytoma" EXACT [NCIT:C9476]
synonym: "DIA" EXACT [GARD:0009617, NCIT:C9476, ONCOTREE:DIA]
xref: GARD:0009617 {source="MONDO:equivalentTo"}
xref: ICDO:9412/1 {source="NCIT:C9476"}
xref: NCIT:C9476 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DIA {source="MONDO:equivalentTo"}
xref: UMLS:C0457179 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C9476", source="GARD:0009617", source="MONDO:equivalentTo"}
is_a: MONDO:0016729 {source="NCIT:C9476"} ! mixed neuronal-glial tumor
relationship: disease_has_feature MONDO:0004897 {source="NCIT:C9476"} ! hypotropia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457179
property_value: exactMatch NCIT:C9476
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma xsd:anyURI {source="GARD:0009617"}

[Term]
id: MONDO:0022965
name: desmoplastic infantile ganglioglioma
def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C4738]
subset: gard_rare
synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738]
synonym: "DIG" EXACT [GARD:0008648, NCIT:C4738, ONCOTREE:DIG]
xref: GARD:0008648 {source="MONDO:equivalentTo"}
xref: NCIT:C4738 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DIG {source="MONDO:equivalentTo"}
xref: UMLS:C1321878 {source="NCIT:C4738", source="GARD:0008648", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0016729 {source="NCIT:C4738"} ! mixed neuronal-glial tumor
relationship: disease_has_feature MONDO:0004897 {source="NCIT:C4738"} ! hypotropia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321878
property_value: exactMatch NCIT:C4738
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma xsd:anyURI {source="GARD:0008648"}

[Term]
id: MONDO:0022968
name: dextrocardia with situs inversus
def: "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia , the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects , usually transposition of the great vessels . Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome ). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." [GARD:0006268]
subset: gard_rare
synonym: "situs inversus totalis" RELATED [GARD:0006268]
xref: GARD:0006268 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0010029 {source="MONDO:cjm"} ! situs inversus
relationship: disease_has_feature MONDO:0015661 ! dextrocardia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1395317
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus xsd:anyURI {source="GARD:0006268"}

[Term]
id: MONDO:0022971
name: diabetes persistent mullerian ducts
subset: gard_rare
xref: GARD:0001840 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts xsd:anyURI {source="GARD:0001840"}

[Term]
id: MONDO:0022972
name: diabetic mastopathy
def: "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." [GARD:0008322]
subset: gard_rare
synonym: "diabetic fibrous breast disease" RELATED [GARD:0008322]
synonym: "diabetic fibrous mastopathy" RELATED [GARD:0008322]
synonym: "lymphocytic mastitis" RELATED [GARD:0008322]
synonym: "lymphocytic mastopathy" RELATED [GARD:0008322]
synonym: "sclerosing lymphocytic lobulitis" RELATED [GARD:0008322]
xref: GARD:0008322 {source="MONDO:equivalentTo"}
xref: MESH:C537524 {source="MONDO:equivalentTo"}
xref: SCTID:724136006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000620 ! breast benign neoplasm
property_value: exactMatch http://identifiers.org/mesh/C537524
property_value: exactMatch http://identifiers.org/snomedct/724136006
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy xsd:anyURI {source="GARD:0008322"}

[Term]
id: MONDO:0022975
name: diaphragmatic agenesis radial aplasia omphalocele
subset: gard_rare
xref: GARD:0001843 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele xsd:anyURI {source="GARD:0001843"}

[Term]
id: MONDO:0022977
name: diaphragmatic hernia exomphalos corpus callosum agenesis
subset: gard_rare
xref: GARD:0001846 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis xsd:anyURI {source="GARD:0001846"}

[Term]
id: MONDO:0022978
name: diaphragmatic hernia upper limb defects
subset: gard_rare
xref: GARD:0001847 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects xsd:anyURI {source="GARD:0001847"}

[Term]
id: MONDO:0022981
name: die Smulders droog van dijk syndrome
subset: gard_rare
xref: GARD:0001857 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022981"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome xsd:anyURI {source="GARD:0001857"}

[Term]
id: MONDO:0022982
name: die Smulders Vles Fryns syndrome
subset: gard_rare
xref: GARD:0001858 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022982"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome xsd:anyURI {source="GARD:0001858"}

[Term]
id: MONDO:0022983
name: Dieterich disease
subset: gard_rare
synonym: "avascular necrosis of the metacarpal head" RELATED [GARD:0000204, MESH:C536172]
synonym: "Dieterich disease" EXACT [GARD:0000204, MESH:C536172]
synonym: "Dieterich's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: GARD:0000204 {source="MONDO:equivalentTo"}
xref: MESH:C536172 {source="MONDO:equivalentTo"}
xref: UMLS:C2931124 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000204", source="MONDO:equivalentTo"}
is_a: MONDO:0005380 {source="MESH:C536172"} ! osteonecrosis
property_value: exactMatch http://identifiers.org/mesh/C536172
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931124
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease xsd:anyURI {source="GARD:0000204"}

[Term]
id: MONDO:0022985
name: diffuse cavernous hemangioma of the rectum
subset: gard_rare
synonym: "cavernous haemangioma of the rectum" RELATED [GARD:0010750]
xref: GARD:0010750 {source="MONDO:equivalentTo"}
is_a: MONDO:0006500 ! hemangioma
is_a: MONDO:0021462 ! benign neoplasm of rectum
is_a: MONDO:0024476 ! epithelial neoplasm of rectum
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum xsd:anyURI {source="GARD:0010750"}

[Term]
id: MONDO:0022986
name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
def: "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." [NCIT:C7437]
subset: gard_rare
synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [NCIT:C7437]
synonym: "DIP-NECH" EXACT [NCIT:C7437]
synonym: "DIPNECH" EXACT [GARD:0010780, NCIT:C7437]
xref: GARD:0010780 {source="MONDO:equivalentTo"}
xref: NCIT:C7437 {source="MONDO:equivalentTo"}
xref: UMLS:C1333291 {source="MONDO:equivalentTo", source="NCIT:C7437"}
is_a: MONDO:0005070 ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333291
property_value: exactMatch NCIT:C7437
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia xsd:anyURI {source="GARD:0010780"}

[Term]
id: MONDO:0022989
name: diomedi bernardi placidi syndrome
subset: gard_rare
xref: GARD:0001870 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022989"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome xsd:anyURI {source="GARD:0001870"}

[Term]
id: MONDO:0022990
name: diphallus rachischisis imperforate anus
subset: gard_rare
xref: GARD:0001873 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus xsd:anyURI {source="GARD:0001873"}

[Term]
id: MONDO:0022991
name: diploid-triploid mosaicism
def: "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells)and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism .Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbingbetween some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy , or analyzing cells in the urine is needed to detect the triploid cells." [GARD:0010715]
subset: gard_rare
synonym: "diploid/triploid mixoploidy" RELATED [GARD:0010715]
synonym: "diploid/triploid mosaicism" RELATED [GARD:0010715]
synonym: "Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia" RELATED [GARD:0010715]
synonym: "Mosaic triploidy" RELATED [GARD:0010715]
xref: GARD:0010715 {source="MONDO:equivalentTo"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C548012 {source="MONDO:equivalentTo"}
xref: SCTID:10177005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265505 {source="MONDO:equivalentTo"}
is_a: MONDO:0019934 {source="MESH:C548012"} ! polyploidy
property_value: exactMatch http://identifiers.org/mesh/C548012
property_value: exactMatch http://identifiers.org/snomedct/10177005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265505
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism xsd:anyURI {source="GARD:0010715"}

[Term]
id: MONDO:0022993
name: dipsogenic diabetes insipidus
def: "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." [NCIT:C129735]
subset: gard_rare
synonym: "Dipsogenic diabetes insipidus" EXACT [NCIT:C129735]
synonym: "dipsogenic diabetes insipidus" EXACT []
synonym: "primary polydipsia" BROAD [GARD:0010703, NCIT:C129735]
xref: GARD:0010703 {source="MONDO:equivalentTo"}
xref: MESH:C548013 {source="MONDO:equivalentTo"}
xref: NCIT:C129735 {source="MONDO:equivalentTo"}
xref: SCTID:82800008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268813 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C129735", source="GARD:0010703"}
is_a: MONDO:0004782 {source="MESH:C548013", source="MONDO:Redundant", source="NCIT:C129735", source="linkedlifedata"} ! diabetes insipidus
is_a: MONDO:0040870 ! primary polydipsia
property_value: exactMatch http://identifiers.org/mesh/C548013
property_value: exactMatch http://identifiers.org/snomedct/82800008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268813
property_value: exactMatch NCIT:C129735
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus xsd:anyURI {source="GARD:0010703"}

[Term]
id: MONDO:0022998
name: distal arthrogryposis Moore weaver type
synonym: "Moore Weaver syndrome" RELATED [MESH:C536814]
xref: MESH:C536814 {source="MONDO:equivalentTo"}
xref: UMLS:C2931342 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0008779 {source="MESH:C536814"} ! arthrogryposis
is_a: MONDO:0019942 {source="MONDO:cjm"} ! distal arthrogryposis
property_value: exactMatch http://identifiers.org/mesh/C536814
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931342

[Term]
id: MONDO:0022999
name: distichiasis heart congenital anomalies
subset: gard_rare
xref: GARD:0001890 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies xsd:anyURI {source="GARD:0001890"}

[Term]
id: MONDO:0023000
name: dobrow syndrome
subset: gard_rare
xref: GARD:0001895 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023000"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome xsd:anyURI {source="GARD:0001895"}

[Term]
id: MONDO:0023002
name: double discordia
subset: gard_rare
synonym: "atrio-ventricular and ventriculo-arterial double Discordia" RELATED [GARD:0001905]
synonym: "corrected transposition" RELATED [GARD:0001905]
xref: GARD:0001905 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0332941
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1905/double-discordia xsd:anyURI {source="GARD:0001905"}

[Term]
id: MONDO:0023003
name: double fingernail of fifth finger
comment: Editor note: consider making a grouping class with MONDO:0007469
subset: gard_rare
xref: GARD:0001906 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0044989 ! foot disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger xsd:anyURI {source="GARD:0001906"}

[Term]
id: MONDO:0023005
name: double uterus-hemivagina-renal agenesis
subset: gard_rare
xref: GARD:0001910 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis xsd:anyURI {source="GARD:0001910"}

[Term]
id: MONDO:0023006
name: doxorubicin induced cardiomyopathy
subset: gard_rare
xref: GARD:0006285 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 ! cardiomyopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy xsd:anyURI {source="GARD:0006285"}

[Term]
id: MONDO:0023007
name: drachtman weinblatt sitarz syndrome
subset: gard_rare
synonym: "drachtman weinblatt sitarz syndrome" EXACT [MONDO:0023008]
synonym: "marrow hypoplasia associated with congenital neurologic anomalies" RELATED [GARD:0001913, MESH:C535603]
xref: GARD:0001913 {source="MONDO:equivalentTo"}
xref: MESH:C535603 {source="MONDO:equivalentTo"}
xref: UMLS:C2930947 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0001913"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023007"} ! syndromic disease
is_a: MONDO:0003225 {source="MESH:C535603"} ! bone marrow disease
property_value: exactMatch http://identifiers.org/mesh/C535603
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930947
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome xsd:anyURI {source="GARD:0001913"}

[Term]
id: MONDO:0023008
name: obsolete drachtman weinblatt sitarz syndrome
is_obsolete: true
replaced_by: MONDO:0023007

[Term]
id: MONDO:0023011
name: Wilson-Mikity syndrome
subset: gard_rare
synonym: "Pulmonary dysmaturity" RELATED [UMLS:C0270171]
synonym: "pulmonary dysmaturity" RELATED []
synonym: "Pulmonary dysmaturity syndrome" RELATED [GARD:0010495]
synonym: "Wilson-Mikity syndrome" RELATED [UMLS:C0270171]
synonym: "wilson-mikity syndrome" EXACT []
xref: GARD:0010495 {source="MONDO:equivalentTo"}
xref: SCTID:51577008 {source="MONDO:equivalentTo", source="UMLS:C0270171"}
xref: UMLS:C0270171 {source="GARD:0010495", source="MONDO:equivalentTo"}
is_a: MONDO:0005275 ! lung disease
relationship: has_modifier MONDO:0021136 {source="GARD:0010495"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/51577008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270171

[Term]
id: MONDO:0023013
name: Duker-Weiss-Siber syndrome
subset: gard_rare
synonym: "Duker Weiss Siber syndrome" RELATED [GARD:0001918]
synonym: "microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism" RELATED [GARD:0001918]
xref: GARD:0001918 {source="MONDO:equivalentTo"}
xref: MESH:C535719 {source="MONDO:equivalentTo"}
xref: UMLS:C2930993 {source="GARD:0001918", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023013"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C535719"} ! intellectual disability
relationship: disease_has_feature MONDO:0009022 {source="MESH:C535719"} ! corpus callosum, agenesis of
relationship: disease_has_feature MONDO:0021129 {source="MESH:C535719"} ! microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C535719
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930993
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome xsd:anyURI {source="GARD:0001918"}

[Term]
id: MONDO:0023015
name: duodenal atresia tetralogy of fallot
subset: gard_rare
xref: GARD:0001919 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot xsd:anyURI {source="GARD:0001919"}

[Term]
id: MONDO:0023016
name: duplication of leg mirror foot
subset: gard_rare
xref: GARD:0001976 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot xsd:anyURI {source="GARD:0001976"}

[Term]
id: MONDO:0023017
name: duplication of the thumb unilateral biphalangeal
subset: gard_rare
xref: GARD:0001977 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal xsd:anyURI {source="GARD:0001977"}

[Term]
id: MONDO:0023018
name: dupont sellier chochillon syndrome
subset: gard_rare
xref: GARD:0001983 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023018"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome xsd:anyURI {source="GARD:0001983"}

[Term]
id: MONDO:0023019
name: dwarfism bluish sclerae
subset: gard_rare
xref: GARD:0001984 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae xsd:anyURI {source="GARD:0001984"}

[Term]
id: MONDO:0023020
name: dwarfism deafness retinitis pigmentosa
subset: gard_rare
xref: GARD:0001985 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa xsd:anyURI {source="GARD:0001985"}

[Term]
id: MONDO:0023021
name: dwarfism lethal type advanced bone age
subset: gard_rare
xref: GARD:0001986 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age xsd:anyURI {source="GARD:0001986"}

[Term]
id: MONDO:0023022
name: dwarfism thin bones multiple fractures
subset: gard_rare
xref: GARD:0001992 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures xsd:anyURI {source="GARD:0001992"}

[Term]
id: MONDO:0023023
name: neonatal dacryocystitis
def: "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." [NCIT:C116819]
synonym: "Neonatal Dacryocystitis" RELATED [NCIT:C116819]
synonym: "Neonatal dacryocystitis" RELATED [UMLS:C0270178]
synonym: "neonatal dacryocystitis" EXACT [NCIT:C116819]
xref: NCIT:C116819 {source="MONDO:equivalentTo", source="UMLS:C0270178"}
xref: SCTID:23735003 {source="MONDO:equivalentTo", source="UMLS:C0270178"}
xref: UMLS:C0270178 {source="MONDO:equivalentTo"}
is_a: MONDO:0004926 {source="NCIT:C116819", source="UMLS:C0270178"} ! dacryocystitis
property_value: exactMatch http://identifiers.org/snomedct/23735003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270178
property_value: exactMatch NCIT:C116819

[Term]
id: MONDO:0023030
name: dysmorphism cleft palate loose skin
subset: gard_rare
xref: GARD:0002009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin xsd:anyURI {source="GARD:0002009"}

[Term]
id: MONDO:0023031
name: dysostosis acral with facial and genital abnormalities
subset: gard_rare
xref: GARD:0002013 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities xsd:anyURI {source="GARD:0002013"}

[Term]
id: MONDO:0023035
name: eagle syndrome
def: "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus ,and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache.Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx . The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids . The overall success rate for treatment (medical or surgical) is about 80%." [GARD:0009401]
subset: gard_rare
synonym: "eagle's syndrome" EXACT [GARD:0009401, MESH:C538010]
synonym: "elongated styloid process syndrome" EXACT [GARD:0009401, MESH:C538010, MONDO:0023037]
synonym: "elongated styloid process which causes cervico facial pain tinnitus and otalgia" RELATED [GARD:0009401]
synonym: "styloid-stylohoid syndrome" RELATED [GARD:0009401, MESH:C538010]
xref: GARD:0009401 {source="MONDO:equivalentTo"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C538010 {source="MONDO:equivalentTo"}
xref: SCTID:609143007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023035", source="MONDOLEX:0023037"} ! syndromic disease
is_a: MONDO:0021668 {source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder involving pain
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868714
property_value: exactMatch http://identifiers.org/mesh/C538010
property_value: exactMatch http://identifiers.org/snomedct/609143007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome xsd:anyURI {source="GARD:0009401"}

[Term]
id: MONDO:0023037
name: obsolete elongated styloid process syndrome
is_obsolete: true
replaced_by: MONDO:0023035

[Term]
id: MONDO:0023038
name: eccentrochondrodysplasia
subset: gard_rare
xref: GARD:0006314 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia xsd:anyURI {source="GARD:0006314"}

[Term]
id: MONDO:0023039
name: eccrine mucinous carcinoma
subset: gard_rare
xref: GARD:0010465 {source="MONDO:equivalentTo"}
xref: UMLS:C0346020 {source="GARD:0010465", source="MONDO:equivalentTo"}
is_a: MONDO:0024240 ! eccrine carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346020
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma xsd:anyURI {source="GARD:0010465"}

[Term]
id: MONDO:0023040
name: ectodermal dysplasia Bartalos type
subset: gard_rare
xref: GARD:0002043 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023040"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type xsd:anyURI {source="GARD:0002043"}

[Term]
id: MONDO:0023041
name: ectodermal dysplasia Berlin type
subset: gard_rare
xref: GARD:0002044 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023041"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type xsd:anyURI {source="GARD:0002044"}

[Term]
id: MONDO:0023042
name: ectodermal dysplasia margarita type
subset: gard_rare
xref: GARD:0002050 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023042"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type xsd:anyURI {source="GARD:0002050"}

[Term]
id: MONDO:0023043
name: ectodermal dysplasia alopecia preaxial polydactyly
subset: gard_rare
synonym: "absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" RELATED [GARD:0002040, MESH:C538016]
xref: GARD:0002040 {source="MONDO:equivalentTo"}
xref: MESH:C538016 {source="MONDO:equivalentTo"}
xref: UMLS:C2931691 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002040"}
is_a: MONDO:0019287 {source="MESH:C538016", source="MONDO:cjm", source="MONDOLEX:0023043"} ! ectodermal dysplasia syndrome
is_a: MONDO:0021034 ! genetic alopecia
property_value: exactMatch http://identifiers.org/mesh/C538016
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931691
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly xsd:anyURI {source="GARD:0002040"}

[Term]
id: MONDO:0023045
name: ectodermal dysplasia arthrogryposis diabetes mellitus
subset: gard_rare
xref: GARD:0002042 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023045"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus xsd:anyURI {source="GARD:0002042"}

[Term]
id: MONDO:0023046
name: ectodermal dysplasia blindness
subset: gard_rare
xref: GARD:0002045 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023046"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness xsd:anyURI {source="GARD:0002045"}

[Term]
id: MONDO:0023048
name: ectodermal dysplasia neurosensory deafness
subset: gard_rare
xref: GARD:0002053 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDO:cjm", source="MONDOLEX:0023048"} ! ectodermal dysplasia syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness xsd:anyURI {source="GARD:0002053"}

[Term]
id: MONDO:0023050
name: ectrodactyly cardiopathy dysmorphism
subset: gard_rare
synonym: "ectrodactyly of lower limbs, congenital heart defect and characteristic facies" RELATED [GARD:0002063, MESH:C536187]
synonym: "Van Den Ende Brunner syndrome" RELATED [GARD:0002063, MESH:C536187]
xref: GARD:0002063 {source="MONDO:equivalentTo"}
xref: MESH:C536187 {source="MONDO:equivalentTo"}
xref: UMLS:C2931127 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002063"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023050"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536187
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931127
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism xsd:anyURI {source="GARD:0002063"}

[Term]
id: MONDO:0023052
name: ectrodactyly polydactyly
subset: gard_rare
xref: GARD:0002068 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly xsd:anyURI {source="GARD:0002068"}

[Term]
id: MONDO:0023054
name: klumpke's paralysis
def: "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome . Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia , ), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild formof injury (neuropraxia) and often recover within 6 months." [GARD:0003123]
subset: gard_rare
synonym: "Dejerine Klumpke Palsy" RELATED [MSH:D020516]
synonym: "Dejerine-Klumpke Palsy" RELATED [MSH:D020516]
synonym: "Dejerine-Klumpke palsy" RELATED [GARD:0003123]
synonym: "Klumpke Palsy" RELATED [MSH:D020516, NCIT:C116724]
synonym: "Klumpke Paralysis" RELATED [MSH:D020516]
synonym: "Klumpke paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke paralysis" RELATED []
synonym: "Klumpke's Palsy" RELATED [MSH:D020516, NCIT:C116724]
synonym: "Klumpke's palsy" RELATED [GARD:0003123, UMLS:C0270898]
synonym: "klumpke's palsy" RELATED []
synonym: "Klumpke's paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke's paralysis" RELATED []
synonym: "Klumpke-DC)jerine brachial plexus injury" RELATED [UMLS:C0270898]
synonym: "klumpke-dC)jerine brachial plexus injury" RELATED []
synonym: "Klumpke-DC)jerine paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke-dC)jerine paralysis" EXACT []
synonym: "Klumpke-Dejerine paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke-dejerine paralysis" RELATED []
synonym: "Klumpkes Palsy" RELATED [MSH:D020516]
synonym: "Lower Brachial Plexus Palsy" RELATED [MSH:D020516]
synonym: "Lower brachial plexus palsy" RELATED [GARD:0003123]
synonym: "Palsy, Dejerine-Klumpke" RELATED [MSH:D020516]
synonym: "Palsy, Klumpke's" RELATED [MSH:D020516]
synonym: "Paralysis of the Lower Brachial Plexus" RELATED [MSH:D020516]
synonym: "Paralysis, Klumpke" RELATED [MSH:D020516]
xref: GARD:0003123 {source="MONDO:equivalentTo"}
xref: SCTID:83886009 {source="UMLS:C0270898", source="MONDO:equivalentTo"}
xref: UMLS:C0270898 {source="GARD:0003123", source="MONDO:equivalentTo"}
is_a: MONDO:0006496 ! palsy
relationship: has_modifier MONDO:0021136 {source="GARD:0003123"} ! rare
property_value: closeMatch NCIT:C116724
property_value: exactMatch http://identifiers.org/snomedct/83886009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270898

[Term]
id: MONDO:0023059
name: Elliott ludman Teebi syndrome
subset: gard_rare
synonym: "multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs" RELATED [GARD:0000189]
xref: GARD:0000189 {source="MONDO:equivalentTo"}
xref: MESH:C536204 {source="MONDO:equivalentTo"}
xref: UMLS:C2931128 {source="GARD:0000189", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536204", source="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536204
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931128
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome xsd:anyURI {source="GARD:0000189"}

[Term]
id: MONDO:0023061
name: enamel hypoplasia cataract hydrocephaly
subset: gard_rare
xref: GARD:0002106 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly xsd:anyURI {source="GARD:0002106"}

[Term]
id: MONDO:0023062
name: encephalocele anencephaly
subset: gard_rare
xref: GARD:0002109 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly xsd:anyURI {source="GARD:0002109"}

[Term]
id: MONDO:0023065
name: obsolete encephalopathy recurrent of childhood
comment: Duplicate.
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1764 xsd:string
is_obsolete: true
replaced_by: MONDO:0007539

[Term]
id: MONDO:0023066
name: enchondromatosis dwarfism deafness
subset: gard_rare
synonym: "Wallis cremin Beighton syndrome" RELATED [GARD:0000294]
xref: GARD:0000294 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023066"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness xsd:anyURI {source="GARD:0000294"}

[Term]
id: MONDO:0023067
name: endemic Kaposi sarcoma
subset: gard_rare
synonym: "African Kaposi sarcoma" RELATED [GARD:0010431]
synonym: "African/endemic Kaposi sarcoma" RELATED [GARD:0010431]
xref: GARD:0010431 {source="MONDO:equivalentTo"}
is_a: MONDO:0005055 ! Kaposi's sarcoma (disease)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma xsd:anyURI {source="GARD:0010431"}

[Term]
id: MONDO:0023068
name: engelhard yatziv syndrome
subset: gard_rare
xref: GARD:0002124 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023068"} ! syndromic disease
property_value: closeMatch Orphanet:2937
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome xsd:anyURI {source="GARD:0002124"}

[Term]
id: MONDO:0023069
name: enlarged vestibular aqueduct syndrome
subset: gard_rare
synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332]
synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651]
xref: DOID:0050332 {source="MONDO:equivalentTo"}
xref: GARD:0008651 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023069"} ! syndromic disease
is_a: MONDO:0002467 ! inner ear disease
is_a: MONDO:0024654 ! skull disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1863752
property_value: exactMatch DOID:0050332
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome xsd:anyURI {source="GARD:0008651"}

[Term]
id: MONDO:0023071
name: enterovirus antenatal infection
subset: gard_rare
xref: GARD:0002130 {source="MONDO:equivalentTo"}
is_a: MONDO:0005747 ! enterovirus infectious disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection xsd:anyURI {source="GARD:0002130"}

[Term]
id: MONDO:0023072
name: obsolete envenomization by Bothrops lanceolatus
subset: gard_rare
synonym: "Envenomization by the Martinique lancehead viper" RELATED [GARD:0002131]
xref: GARD:0002131 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:1939 {source="MONDO:obsoleteEquivalent", source="GARD:0002131"}
property_value: exactMatch Orphanet:1939
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus xsd:anyURI {source="GARD:0002131"}
is_obsolete: true

[Term]
id: MONDO:0023073
name: eosinophilic cryptitis
def: "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma , and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." [GARD:0006347]
subset: gard_rare
synonym: "eosinophilic cystitis" RELATED [GARD:0006347]
xref: GARD:0006346 {source="MONDO:equivalentTo"}
xref: GARD:0006347 {source="MONDO:equivalentTo"}
xref: ICD9:595.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:445918001 {source="MONDO:equivalentTo"}
xref: UMLS:C0742965 {source="GARD:0006347", source="MONDO:equivalentTo"}
is_a: MONDO:0006032 {source="MONDO:Redundant", source="linkedlifedata"} ! cystitis
property_value: exactMatch http://identifiers.org/snomedct/445918001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0742965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis xsd:anyURI {source="GARD:0006346"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis xsd:anyURI {source="GARD:0006347"}

[Term]
id: MONDO:0023076
name: eosinophilic pustular folliculitis
def: "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy . In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." [GARD:0008534]
subset: gard_rare
synonym: "eosinophilic folliculitis" RELATED [GARD:0008534]
synonym: "eosinophilic folliculitis, pustular" RELATED [GARD:0008534, MESH:C535953]
synonym: "EPF" RELATED [GARD:0008534]
synonym: "Ofuji disease" RELATED [GARD:0008534, MESH:C535953]
synonym: "Ofuji's disease" RELATED [GARD:0008534, MESH:C535953]
xref: GARD:0008534 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535953 {source="MONDO:equivalentTo"}
xref: SCTID:95333004 {source="MONDO:equivalentTo"}
xref: UMLS:C0406305 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0008534"}
is_a: MONDO:0006552 {source="MESH:C535953", source="MONDOLEX:0023076", source="linkedlifedata", source="linkedlifedata/inferred"} ! folliculitis
is_a: MONDO:0006617 {source="MESH:C535953"} ! vesiculobullous skin disease
property_value: exactMatch http://identifiers.org/mesh/C535953
property_value: exactMatch http://identifiers.org/snomedct/95333004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406305
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis xsd:anyURI {source="GARD:0008534"}

[Term]
id: MONDO:0023079
name: epidermal nevus vitamin D resistant rickets
subset: gard_rare
xref: GARD:0002136 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets xsd:anyURI {source="GARD:0002136"}

[Term]
id: MONDO:0023083
name: epimetaphyseal dysplasia cataract
subset: gard_rare
xref: GARD:0002175 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract xsd:anyURI {source="GARD:0002175"}

[Term]
id: MONDO:0023084
name: epiphyseal dysplasia dysmorphism camptodactyly
subset: gard_rare
xref: GARD:0002177 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly xsd:anyURI {source="GARD:0002177"}

[Term]
id: MONDO:0023089
name: erythroplakia
def: "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." [NCIT:C3025]
subset: gard_rare
synonym: "erythroplakia" EXACT [NCIT:C3025]
xref: EFO:1001786 {source="MONDO:equivalentTo"}
xref: GARD:0006378 {source="MONDO:equivalentTo"}
xref: NCIT:C3025 {source="MONDO:equivalentTo"}
xref: UMLS:C0014818 {source="MONDO:equivalentTo", source="NCIT:C3025", source="GARD:0006378"}
is_a: MONDO:0005070 {source="EFO:1001786"} ! neoplasm (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014818
property_value: exactMatch NCIT:C3025
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6378/erythroplakia xsd:anyURI {source="GARD:0006378"}

[Term]
id: MONDO:0023091
name: esophageal atresia coloboma talipes
subset: gard_rare
xref: GARD:0002196 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes xsd:anyURI {source="GARD:0002196"}

[Term]
id: MONDO:0023093
name: exertional headache
subset: gard_rare
synonym: "primary Exertional headache" RELATED [GARD:0010800]
synonym: "primary headache associated with sexual activity" RELATED [GARD:0010800]
xref: GARD:0010800 {source="MONDO:equivalentTo"}
is_a: MONDO:0021146 ! headache disorder
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10800/exertional-headache xsd:anyURI {source="GARD:0010800"}

[Term]
id: MONDO:0023094
name: exogenous ochronosis
def: "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria ." [GARD:0010757]
subset: gard_rare
synonym: "exogenous ochronosis" EXACT [MESH:C531762]
synonym: "ochronosis, acquired" RELATED [GARD:0010757]
synonym: "ocular ochronosis" RELATED [MESH:C531762]
synonym: "pseudo-ochronosis" RELATED [MESH:C531762]
xref: GARD:0010757 {source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C531762 {source="MONDO:equivalentTo"}
xref: SCTID:410041002 {source="MONDO:equivalentTo"}
is_a: MONDO:0001910 {source="MESH:C531762"} ! ochronosis disorder
property_value: exactMatch http://identifiers.org/mesh/C531762
property_value: exactMatch http://identifiers.org/snomedct/410041002
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis xsd:anyURI {source="GARD:0010757"}

[Term]
id: MONDO:0023097
name: obsolete exostoses anetodermia brachydactyly type E
subset: gard_rare
xref: GARD:0002202 {source="MONDO:equivalentTo"}
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/405 xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0023098
name: extrasystoles short stature hyperpigmentation microcephaly
subset: gard_rare
synonym: "Char douglas Dungan syndrome" RELATED [GARD:0002213]
xref: GARD:0002213 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023098"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly xsd:anyURI {source="GARD:0002213"}

[Term]
id: MONDO:0023099
name: FRAXD syndrome
subset: gard_rare
synonym: "FRAXD" RELATED [GARD:0002377]
xref: GARD:0002377 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2377/fraxd xsd:anyURI {source="GARD:0002377"}

[Term]
id: MONDO:0023100
name: facial clefting corpus callosum agenesis
subset: gard_rare
xref: GARD:0002220 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis xsd:anyURI {source="GARD:0002220"}

[Term]
id: MONDO:0023101
name: facio digito genital syndrome recessive form
subset: gard_rare
xref: GARD:0002226 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023101"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form xsd:anyURI {source="GARD:0002226"}

[Term]
id: MONDO:0023102
name: facio skeletal genital syndrome rippberger type
subset: gard_rare
synonym: "Ripperger Aase syndrome" RELATED [GARD:0002227]
xref: GARD:0002227 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023102"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type xsd:anyURI {source="GARD:0002227"}

[Term]
id: MONDO:0023106
name: Fairbank disease
synonym: "dysplasia epiphysealis multiplex" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia Fairbank type" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia, Fairbank type" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia, ribbing type" RELATED [MESH:C536393]
synonym: "Fairbank multiple epiphyseal dysplasia" RELATED [MESH:C536393]
xref: MESH:C536393 {source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="MESH:C536393"} ! osteochondrodysplasia
property_value: exactMatch http://identifiers.org/mesh/C536393

[Term]
id: MONDO:0023111
name: familial capillaro-venous leptomeningeal angiomatosis
subset: gard_rare
xref: GARD:0009423 {source="MONDO:equivalentTo"}
xref: MESH:C536609 {source="MONDO:equivalentTo"}
xref: UMLS:C2931262 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009423"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931262
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis xsd:anyURI {source="GARD:0009423"}

[Term]
id: MONDO:0023113
name: familial colorectal cancer
def: "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." [GARD:0008533]
subset: gard_rare
synonym: "colorectal cancer, familial" RELATED [GARD:0008533]
synonym: "hereditary colorectal cancer" EXACT [MONDO:patterns/hereditary]
xref: GARD:0008533 {source="MONDO:equivalentTo"}
xref: UMLS:CN029768 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 ! colorectal cancer
is_a: MONDO:0017128 ! inherited digestive tract tumor
intersection_of: MONDO:0005575 ! colorectal cancer
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029768
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer xsd:anyURI {source="GARD:0008533"}

[Term]
id: MONDO:0023119
name: familial myelofibrosis
subset: gard_rare
xref: GARD:0008516 {source="MONDO:equivalentTo"}
xref: MESH:C536848 {source="MONDO:equivalentTo"}
xref: UMLS:C2931351 {source="GARD:0008516", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009692 {source="MESH:C536848"} ! primary myelofibrosis
property_value: exactMatch http://identifiers.org/mesh/C536848
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931351
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis xsd:anyURI {source="GARD:0008516"}

[Term]
id: MONDO:0023121
name: familial partial paralysis
subset: gard_rare
synonym: "partial paralysis, familial" RELATED [GARD:0008607]
xref: GARD:0008607 {source="MONDO:equivalentTo"}
xref: GTR:AN0100894
xref: MEDGEN:447610
xref: UMLS:CN035928 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035928
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis xsd:anyURI {source="GARD:0008607"}

[Term]
id: MONDO:0023122
name: familial prostate carcinoma
def: "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." [NCIT:C103817]
comment: Editor note: check OMIM
subset: gard_rare
synonym: "familial prostate cancer" EXACT [GTR:AN0101368]
synonym: "hereditary prostate cancer" EXACT [MONDO:patterns/hereditary, NCIT:C103817]
synonym: "hereditary prostate cancer" RELATED [GTR:AN0101369]
synonym: "hereditary prostate carcinoma" EXACT [NCIT:C103817]
synonym: "prostate cancer, familial" RELATED [GARD:0004520]
synonym: "prostate cancer, hereditary" RELATED [GARD:0004520]
xref: GARD:0004520 {source="MONDO:equivalentTo"}
xref: GTR:AN0101368 {source="UMLS:CN036094"}
xref: GTR:AN0101369 {source="UMLS:CN036094"}
xref: NCIT:C103817 {source="MONDO:equivalentTo"}
xref: OMIM:176807 {source="Orphanet:1331", source="MONDO:equivalentTo", source="DOID:10283", source="ORDO:1331/ntbt"}
xref: Orphanet:1331 {source="MONDO:subClassOf", source="GARD:0004520", source="MONDO:equivalentTo", source="OMIM:176807", source="DOID:10283"}
xref: SCTID:715412008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931456 {source="GARD:0004520", source="MONDO:equivalentTo"}
xref: UMLS:CN036094 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0005159 {source="NCIT:C103817"} ! prostate carcinoma
intersection_of: MONDO:0005159 ! prostate carcinoma
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C537243
property_value: exactMatch http://identifiers.org/omim/176807
property_value: exactMatch http://identifiers.org/snomedct/715412008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931456
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036094
property_value: exactMatch NCIT:C103817
property_value: exactMatch Orphanet:1331
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer xsd:anyURI {source="GARD:0004520"}

[Term]
id: MONDO:0023124
name: familial pulmonary arterial hypertension leucopenia and atrial septal defect
subset: gard_rare
synonym: "familial PAH, leucopenia and ASD" RELATED [GARD:0010455]
synonym: "familial pulmonary arterial hypertension, leucopenia and ASD" RELATED [GARD:0010455]
xref: GARD:0010455 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect xsd:anyURI {source="GARD:0010455"}

[Term]
id: MONDO:0023129
name: Fara Chlupackova syndrome
subset: gard_rare
synonym: "familial oto-facio-cervical dysmorphia" RELATED [GARD:0002273, MESH:C537074]
xref: GARD:0002273 {source="MONDO:equivalentTo"}
xref: MESH:C537074 {source="MONDO:equivalentTo"}
xref: UMLS:C2931416 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002273"}
is_a: MONDO:0015483 {source="MESH:C537074"} ! mandibulofacial dysostosis
property_value: exactMatch http://identifiers.org/mesh/C537074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931416
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome xsd:anyURI {source="GARD:0002273"}

[Term]
id: MONDO:0023133
name: Faye-Petersen-Ward-Carey syndrome
xref: MESH:C537076 {source="MONDO:equivalentTo"}
xref: UMLS:C2931417 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023133"} ! syndromic disease
relationship: disease_has_feature MONDO:0005044 {source="MESH:C537076"} ! hypertensive disorder
relationship: disease_has_feature MONDO:0005516 {source="MESH:C537076"} ! osteochondrodysplasia
relationship: disease_has_feature MONDO:0009022 {source="MESH:C537076"} ! corpus callosum, agenesis of
property_value: exactMatch http://identifiers.org/mesh/C537076
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931417

[Term]
id: MONDO:0023134
name: febrile ulceronecrotic mucha-habermann disease
def: "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA) . PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." [GARD:0009516]
subset: gard_rare
synonym: "A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)" RELATED [GARD:0009516]
synonym: "febrile ulceronecrotic mucha-habermann disease" EXACT []
synonym: "febrile ulceronecrotic pityriasis lichenoides acuta" EXACT []
synonym: "FUMHD" RELATED [GARD:0009516]
synonym: "ulceronecrotic Mucha-Habermann disease" RELATED [GARD:0009516, MESH:C537077]
synonym: "variant of Mucha-Habermann disease" RELATED [GARD:0009516]
xref: GARD:0009516 {source="MONDO:equivalentTo"}
xref: MESH:C537077 {source="MONDO:equivalentTo"}
xref: SCTID:402860008 {source="MONDO:equivalentTo"}
xref: UMLS:C1274297 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009516", source="MONDO:equivalentTo"}
is_a: MONDO:0024250 {source="GARD:0009516-text", source="MONDO:cjm", source="linkedlifedata"} ! acute lichenoid pityriasis
property_value: exactMatch http://identifiers.org/mesh/C537077
property_value: exactMatch http://identifiers.org/snomedct/402860008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274297
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease xsd:anyURI {source="GARD:0009516"}

[Term]
id: MONDO:0023137
name: feigenbaum Bergeron syndrome
subset: gard_rare
xref: GARD:0002280 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023137"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome xsd:anyURI {source="GARD:0002280"}

[Term]
id: MONDO:0023138
name: Feingold trainer syndrome
subset: gard_rare
synonym: "unusual facies, cleft palate, short stature, and mental retardation" RELATED [GARD:0002282, MESH:C536179]
xref: GARD:0002282 {source="MONDO:equivalentTo"}
xref: MESH:C536179 {source="MONDO:equivalentTo"}
xref: UMLS:C2931126 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002282"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023138"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C536179"} ! intellectual disability
relationship: disease_has_feature MONDO:0016064 {source="MESH:C536179"} ! cleft palate
property_value: exactMatch http://identifiers.org/mesh/C536179
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931126
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome xsd:anyURI {source="GARD:0002282"}

[Term]
id: MONDO:0023140
name: fenton Wilkinson Toselano syndrome
subset: gard_rare
xref: GARD:0002287 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023140"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome xsd:anyURI {source="GARD:0002287"}

[Term]
id: MONDO:0023141
name: obsolete antihypertensive drugs antenatal exposure syndrome
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
synonym: "antihypertensive drugs antenatal exposure" RELATED [GARD:0000733]
synonym: "fetal antihypertensive drugs syndrome" RELATED [GARD:0000733]
xref: GARD:0000733 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 https://github.com/monarch-initiative/mondo/issues/141 xsd:string
is_obsolete: true

[Term]
id: MONDO:0023142
name: fetal brain disruption sequence
subset: gard_rare
xref: GARD:0002297 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence xsd:anyURI {source="GARD:0002297"}

[Term]
id: MONDO:0023143
name: fetal enterovirus syndrome
subset: gard_rare
xref: GARD:0002302 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0023143"} ! syndromic disease
is_a: MONDO:0017375 ! congenital enterovirus infection
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome xsd:anyURI {source="GARD:0002302"}

[Term]
id: MONDO:0023147
name: fetal parainfluenza virus type 3 syndrome
def: "A syndrome caused by HPIV-3." [http://cmr.asm.org/content/16/2/242.full]
subset: gard_rare
synonym: "Human respirovirus 3 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human respirovirus 3 infectious embryofetopathy" EXACT []
xref: GARD:0002309 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023147"} ! syndromic disease
is_a: MONDO:0016511 ! infectious embryofetopathy
is_a: MONDO:0042974 ! parainfluenza virus type 3 infectious disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome xsd:anyURI {source="GARD:0002309"}

[Term]
id: MONDO:0023148
name: fetal phenothiazine syndrome
subset: gard_rare
xref: GARD:0002311 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023148"} ! syndromic disease
is_a: MONDO:0016677 {source="MONDO:cjm"} ! toxic or drug-related embryofetopathy
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome xsd:anyURI {source="GARD:0002311"}

[Term]
id: MONDO:0023149
name: infection due to clostridium perfringens
subset: gard_rare
synonym: "C. perfringens infection" RELATED [GARD:0011970]
synonym: "Clostridium perfringens Infection" RELATED [MSH:D003015]
synonym: "Clostridium perfringens infection" RELATED [UMLS:C0275619]
synonym: "Clostridium perfringens Infections" RELATED [MSH:D003015]
synonym: "Infection caused by Clostridium perfringens" RELATED [UMLS:C0275619]
synonym: "Infection due to Clostridium perfringens" RELATED [UMLS:C0275619]
synonym: "Infection, Clostridium perfringens" RELATED [MSH:D003015]
synonym: "Infections, Clostridium perfringens" RELATED [MSH:D003015]
xref: GARD:0011970 {source="MONDO:equivalentTo"}
xref: SCTID:65154009 {source="UMLS:C0275619", source="MONDO:equivalentTo"}
xref: UMLS:C0275619 {source="MONDO:equivalentTo"}
is_a: MONDO:0024388 {source="linkedlife"} ! Clostridium infectious disease
relationship: has_modifier MONDO:0021136 {source="GARD:0011970"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/65154009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275619

[Term]
id: MONDO:0023152
name: fibrocartilaginous embolism
def: "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery ) that occurs in the spinal cord . FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis .The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy ." [GARD:0009718]
subset: gard_rare
synonym: "embolism, fibrocartilaginous" RELATED [GARD:0009718, MESH:C537927]
xref: GARD:0009718 {source="MONDO:equivalentTo"}
xref: MESH:C537927 {source="MONDO:equivalentTo"}
xref: UMLS:C2931666 {source="MONDO:equivalentTo", source="GARD:0009718"}
is_a: MONDO:0005385 {source="MESH:C537927/inferred", source="MONDO:cjm"} ! vascular disease
is_a: MONDO:0005569 {source="MESH:C537927"} ! cartilage disease
property_value: exactMatch http://identifiers.org/mesh/C537927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931666
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism xsd:anyURI {source="GARD:0009718"}

[Term]
id: MONDO:0023153
name: tuberculous ascites
synonym: "Tuberculous Ascites" RELATED [NCIT:C27076]
synonym: "Tuberculous ascites" RELATED [UMLS:C0275919]
synonym: "tuberculous ascites" EXACT []
xref: NCIT:C27076 {source="MONDO:equivalentTo", source="UMLS:C0275919"}
xref: SCTID:4501007 {source="MONDO:equivalentTo", source="UMLS:C0275919"}
xref: UMLS:C0275919 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="NCIT:C27076", source="UMLS:C0275919"} ! tuberculosis
property_value: exactMatch http://identifiers.org/snomedct/4501007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275919
property_value: exactMatch NCIT:C27076

[Term]
id: MONDO:0023154
name: fibromatosis multiple non ossifying
subset: gard_rare
synonym: "disseminated nonossifying fibromas in association with cafe-au-lait spots" RELATED [GARD:0000309]
synonym: "Jaffe Campanacci syndrome" RELATED [GARD:0000309]
xref: GARD:0000309 {source="MONDO:equivalentTo"}
xref: SCTID:715432009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796000 {source="MONDO:equivalentTo", source="GARD:0000309"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023154"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/715432009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796000
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying xsd:anyURI {source="GARD:0000309"}

[Term]
id: MONDO:0023155
name: fibula aplasia complex brachydactyly
subset: gard_rare
xref: GARD:0002329 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly xsd:anyURI {source="GARD:0002329"}

[Term]
id: MONDO:0023156
name: obsolete fibular aplasia
subset: gard_rare
xref: GARD:0008659 {source="shared-umls-xref", source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836186
is_obsolete: true
consider: HP:0002990

[Term]
id: MONDO:0023157
name: fibular hypoplasia scapulo pelvic dysplasia absent
subset: gard_rare
xref: GARD:0002333 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent xsd:anyURI {source="GARD:0002333"}

[Term]
id: MONDO:0023158
name: Fitz-Hugh-Curtis syndrome
def: "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics ." [GARD:0006452]
comment: Editor note: check taxon
subset: gard_rare
synonym: "gonococcal perihepatitis" NARROW [GARD:0006452, MESH:C537936]
synonym: "perihepatitis syndrome" RELATED [GARD:0006452, MESH:C537936]
xref: GARD:0006452 {source="MONDO:equivalentTo"}
xref: MESH:C537936 {source="MONDO:equivalentTo"}
xref: SCTID:237041005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000922 {source="MESH:C537936"} ! pelvic inflammatory disease
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023158"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0021697 {source="MESH:C537936"} ! chlamydia infectious disease
property_value: exactMatch http://identifiers.org/mesh/C537936
property_value: exactMatch http://identifiers.org/snomedct/237041005
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome xsd:anyURI {source="GARD:0006452"}

[Term]
id: MONDO:0023161
name: viral myocarditis
def: "Myocarditis that is caused by an infection with a viral agent." [NCIT:C128381]
synonym: "Viral Myocarditis" RELATED [NCIT:C128381]
synonym: "Viral myocarditis" RELATED [UMLS:C0276138]
synonym: "viral myocarditis" EXACT [NCIT:C128381]
xref: NCIT:C128381 {source="MONDO:equivalentTo", source="UMLS:C0276138"}
xref: SCTID:89141000 {source="MONDO:equivalentTo", source="UMLS:C0276138"}
xref: UMLS:C0276138 {source="MONDO:equivalentTo"}
is_a: MONDO:0004496 {source="NCIT:C128381", source="UMLS:C0276138"} ! myocarditis
is_a: MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/snomedct/89141000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276138
property_value: exactMatch NCIT:C128381

[Term]
id: MONDO:0023164
name: viral pericarditis
def: "Pericarditis that is caused by an infection with a viral agent." [NCIT:C128405]
synonym: "Viral Pericarditis" RELATED [NCIT:C128405]
synonym: "Viral pericarditis" RELATED [UMLS:C0276139]
synonym: "viral pericarditis" EXACT [NCIT:C128405]
xref: NCIT:C128405 {source="MONDO:equivalentTo", source="UMLS:C0276139"}
xref: SCTID:70189005 {source="MONDO:equivalentTo", source="UMLS:C0276139"}
xref: UMLS:C0276139 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0005904 {source="NCIT:C128405"} ! pericarditis (disease)
property_value: exactMatch http://identifiers.org/snomedct/70189005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276139
property_value: exactMatch NCIT:C128405

[Term]
id: MONDO:0023165
name: florid cystic endosalpingiosis of the uterus
subset: gard_rare
synonym: "cystic endosalpingiosis of the uterus" RELATED [GARD:0000130, MESH:C537064]
synonym: "florid cystic endosalpingiosis" RELATED []
synonym: "intramural florid cystic endosalpingiosis in lower uterine segment of the uterus" RELATED [PMID:25675925]
synonym: "intramural florid cystic endosalpingiosis of the uterus" RELATED [PMID:25675925]
xref: GARD:0000130 {source="MONDO:equivalentTo"}
xref: MESH:C537064 {source="MONDO:equivalentTo"}
xref: UMLS:C2931410 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000130"}
is_a: MONDO:0001283 {source="MONDO:cjm"} ! endosalpingiosis
is_a: MONDO:0002654 ! uterine disease
relationship: excluded_subClassOf MONDO:0005596 {source="MESH:C537064"} ! cystadenocarcinoma
relationship: has_modifier MONDO:0021136 ! rare
property_value: exactMatch http://identifiers.org/mesh/C537064
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931410
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus xsd:anyURI {source="GARD:0000130"}

[Term]
id: MONDO:0023167
name: focal alopecia congenital megalencephaly
subset: gard_rare
xref: GARD:0002349 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly xsd:anyURI {source="GARD:0002349"}

[Term]
id: MONDO:0023170
name: focal or multifocal malformations in neuronal migration
subset: gard_rare
xref: GARD:0002350 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration xsd:anyURI {source="GARD:0002350"}

[Term]
id: MONDO:0023171
name: foix chavany Marie syndrome
def: "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." [Orphanet:2048]
subset: gard_rare
synonym: "anterior opercular syndrome" RELATED [MESH:C537069]
synonym: "bilateral anterior opercular syndrome" RELATED [MESH:C537069]
synonym: "congenital Foix-Chavany-Marie syndrome" RELATED [MESH:C537069]
synonym: "congenital Foix-Chavany-Marie syndrome (subtype)" RELATED [GARD:0002351]
synonym: "facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis" RELATED [MESH:C537069]
synonym: "facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation" RELATED [GARD:0002351, MESH:C537069]
synonym: "facio-pharyngo-glosso-masticatory diplegia" RELATED []
synonym: "foix chavany Marie syndrome" EXACT []
synonym: "opercular syndrome, anterior" RELATED [MESH:C537069]
synonym: "pseudobulbar paralysis, cortical type" RELATED [MESH:C537069]
xref: GARD:0002351 {source="MONDO:equivalentTo"}
xref: MESH:C537069 {source="MONDO:equivalentTo"}
xref: Orphanet:2048 {source="MONDO:equivalentTo"}
xref: SCTID:720956003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931412 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002351"}
is_a: MONDO:0001819 {source="linkedlifedata"} ! multiple cranial nerve palsy
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023171"} ! syndromic disease
relationship: disease_has_feature MONDO:0001835 {source="MESH:C537069"} ! facial paralysis
property_value: exactMatch http://identifiers.org/mesh/C537069
property_value: exactMatch http://identifiers.org/snomedct/720956003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931412
property_value: exactMatch Orphanet:2048
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome xsd:anyURI {source="GARD:0002351"}

[Term]
id: MONDO:0023174
name: obsolete follicular lymphoreticuloma
comment: Editor note: check hodgkin's disease, lymphocyte depletion, reticular
subset: gard_rare
xref: GARD:0002357 {source="MONDO:obsoletEquivalent"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma xsd:anyURI {source="GARD:0002357"}
is_obsolete: true

[Term]
id: MONDO:0023175
name: Fontaine farriaux blanckaert syndrome
subset: gard_rare
xref: GARD:0002358 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023175"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome xsd:anyURI {source="GARD:0002358"}

[Term]
id: MONDO:0023176
name: formaldehyde poisoning
subset: gard_rare
synonym: "formaldehyde exposure" RELATED [MESH:C537268]
synonym: "formaldehyde toxicity" RELATED [GARD:0002361, MESH:C537268]
synonym: "Formalin intoxication" RELATED [GARD:0002361, MESH:C537268]
synonym: "Formalin toxicity" RELATED [GARD:0002361, MESH:C537268]
xref: GARD:0002361 {source="MONDO:equivalentTo"}
xref: MESH:C537268 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:cjm"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: exactMatch http://identifiers.org/mesh/C537268
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning xsd:anyURI {source="GARD:0002361"}

[Term]
id: MONDO:0023178
name: fragile X syndrome type 1
subset: gard_rare
xref: GARD:0002366 {source="MONDO:equivalentTo"}
is_a: MONDO:0010383 ! fragile X syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1 xsd:anyURI {source="GARD:0002366"}

[Term]
id: MONDO:0023179
name: fragile X syndrome type 2
subset: gard_rare
xref: GARD:0002367 {source="MONDO:equivalentTo"}
is_a: MONDO:0010383 ! fragile X syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2 xsd:anyURI {source="GARD:0002367"}

[Term]
id: MONDO:0023180
name: fragile X syndrome type 3
subset: gard_rare
xref: GARD:0002368 {source="MONDO:equivalentTo"}
is_a: MONDO:0010383 ! fragile X syndrome
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3 xsd:anyURI {source="GARD:0002368"}

[Term]
id: MONDO:0023182
name: Franceschini Vardeu Guala syndrome
subset: gard_rare
xref: GARD:0002371 {source="MONDO:equivalentTo"}
xref: MESH:C537272 {source="MONDO:equivalentTo"}
xref: UMLS:C2931463 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002371"}
is_a: MONDO:0007534 {source="MESH:C537272"} ! Beckwith-Wiedemann syndrome
property_value: exactMatch http://identifiers.org/mesh/C537272
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931463
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome xsd:anyURI {source="GARD:0002371"}

[Term]
id: MONDO:0023186
name: Fraser Jequier Chen syndrome
subset: gard_rare
synonym: "chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs" RELATED [GARD:0002373]
xref: GARD:0002373 {source="MONDO:equivalentTo"}
xref: MESH:C535481 {source="MONDO:equivalentTo"}
xref: UMLS:C2930912 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002373"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023186"} ! syndromic disease
relationship: disease_has_feature MONDO:0005516 {source="MESH:C535481"} ! osteochondrodysplasia
relationship: disease_has_feature MONDO:0010029 {source="MESH:C535481"} ! situs inversus
property_value: exactMatch http://identifiers.org/mesh/C535481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930912
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome xsd:anyURI {source="GARD:0002373"}

[Term]
id: MONDO:0023188
name: Freiberg disease
def: "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." [GARD:0002380]
subset: gard_rare
synonym: "Freiberg's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Freiberg's infraction" RELATED [GARD:0002380, MESH:C535636]
synonym: "Freiberg-Kohler syndrome" RELATED [GARD:0002380, MESH:C535636]
synonym: "Kohler's second disease" RELATED [GARD:0002380, MESH:C535636]
synonym: "Osteochondrosis of the metatarsal head, usually the second" RELATED [GARD:0002380]
synonym: "second metatarsal osteochondrosis" RELATED [GARD:0002380, MESH:C535636]
xref: GARD:0002380 {source="MONDO:equivalentTo"}
xref: MESH:C535636 {source="MONDO:equivalentTo"}
xref: SCTID:28466007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264099 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="GARD:0002380"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023188"} ! syndromic disease
is_a: MONDO:0016086 {source="linkedlifedata"} ! osteochondritis of tarsal/metatarsal bone
is_a: MONDO:0044989 ! foot disease
property_value: exactMatch http://identifiers.org/mesh/C535636
property_value: exactMatch http://identifiers.org/snomedct/28466007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264099
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease xsd:anyURI {source="GARD:0002380"}

[Term]
id: MONDO:0023191
name: Freire-Maia odontotrichomelic syndrome
subset: gard_rare
synonym: "odontotrichomelic hypohidrotic dysplasia" RELATED [GARD:0002381, MESH:C535637]
xref: GARD:0002381 {source="MONDO:equivalentTo"}
xref: MESH:C535637 {source="MONDO:equivalentTo"}
xref: UMLS:C2930960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002381"}
is_a: MONDO:0019287 {source="MESH:C535637"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535637
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930960
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome xsd:anyURI {source="GARD:0002381"}

[Term]
id: MONDO:0023193
name: Friedman Goodman syndrome
subset: gard_rare
xref: GARD:0002387 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023193"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome xsd:anyURI {source="GARD:0002387"}

[Term]
id: MONDO:0023194
name: frints de Smet Fabry Fryns syndrome
subset: gard_rare
synonym: "Symbrachydactyly of the hand and foot" RELATED [GARD:0001680, MESH:C538062]
xref: GARD:0001680 {source="MONDO:equivalentTo"}
xref: MESH:C538062 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023194"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931719
property_value: exactMatch http://identifiers.org/mesh/C538062
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome xsd:anyURI {source="GARD:0001680"}

[Term]
id: MONDO:0023196
name: frontonasal malformation cloacal exstrophy
subset: gard_rare
synonym: "fronto nasal malformation cloacal exstrophy" RELATED [GARD:0002389]
xref: GARD:0002389 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy xsd:anyURI {source="GARD:0002389"}

[Term]
id: MONDO:0023197
name: frontonasal dysplasia Klippel feil syndrome
subset: gard_rare
xref: GARD:0002394 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023197"} ! syndromic disease
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
relationship: disease_has_feature MONDO:0016643 ! frontonasal dysplasia
property_value: closeMatch Orphanet:1828
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome xsd:anyURI {source="GARD:0002394"}

[Term]
id: MONDO:0023199
name: frontonasal dysplasia phocomelic upper limbs
subset: gard_rare
xref: GARD:0002395 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
relationship: disease_has_feature MONDO:0016643 ! frontonasal dysplasia
relationship: disease_has_feature MONDO:0017441 ! congenital absence of upper arm and forearm with hand present
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs xsd:anyURI {source="GARD:0002395"}

[Term]
id: MONDO:0023200
name: Fryns Fabry Remans syndrome
subset: gard_rare
xref: GARD:0002407 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023200"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome xsd:anyURI {source="GARD:0002407"}

[Term]
id: MONDO:0023201
name: Fryns Smeets Thiry syndrome
subset: gard_rare
xref: GARD:0002409 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023201"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome xsd:anyURI {source="GARD:0002409"}

[Term]
id: MONDO:0023203
name: Fuchs atrophia gyrata chorioideae et retinae
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease

[Term]
id: MONDO:0023204
name: Fukuda-Miyanomae-Nakata syndrome
subset: gard_rare
synonym: "Cerebromuscular dystrophy, Fukuyama type" RELATED [GARD:0006475]
synonym: "FCMD" RELATED [GARD:0006475]
synonym: "Fukuyama type muscular dystrophy" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital progressive, with mental retardation" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital, Fukuyama type" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital, with central nervous system involvement" RELATED [GARD:0006475]
xref: GARD:0002411 {source="MONDO:equivalentTo"}
xref: GARD:0006475 {source="MONDO:equivalentTo"}
xref: Orphanet:2060 {source="MONDO:obsoleteEquivalent", source="UMLS:CN776933"}
xref: UMLS:CN776933 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023204"} ! syndromic disease
is_a: MONDO:0020121 ! muscular dystrophy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN776933
property_value: exactMatch Orphanet:2060
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome xsd:anyURI {source="GARD:0002411"}
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy xsd:anyURI {source="GARD:0006475"}

[Term]
id: MONDO:0023206
name: functional pancreatic neuroendocrine tumor
def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." [NCIT:C45840]
subset: gard_rare
subset: ordo_group_of_disorders
synonym: "functional pancreatic NET" EXACT [NCIT:C45840]
synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506060]
synonym: "functioning pancreatic endocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning pancreatic NET" EXACT [NCIT:C45840, Orphanet:506060]
synonym: "functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45840, Orphanet:506060]
synonym: "functioning PNET" EXACT [Orphanet:506060]
synonym: "functioning well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C45840]
synonym: "functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506060]
synonym: "syndromic pancreatic NET" EXACT [NCIT:C45840]
synonym: "syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45840]
xref: GARD:0002414 {source="MONDO:equivalentTo"}
xref: NCIT:C45840 {source="MONDO:equivalentTo"}
xref: Orphanet:506060 {source="MONDO:equivalentTo"}
xref: UMLS:C1708107 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45840"}
is_a: MONDO:0019954 {source="MONDO:Redundant", source="MONDOLEX:0023206", source="NCIT:C45840", source="Orphanet:506060"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0021120 {source="MONDO:Redundant", source="NCIT:C45840"} ! functioning endocrine neoplasm
intersection_of: MONDO:0019954 {source="NCIT:C45840"} ! pancreatic neuroendocrine tumor
intersection_of: MONDO:0021120 {source="NCIT:C45840"} ! functioning endocrine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1708105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708107
property_value: exactMatch NCIT:C45840
property_value: exactMatch Orphanet:506060
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor xsd:anyURI {source="GARD:0002414"}

[Term]
id: MONDO:0023208
name: Fuqua Berkovitz syndrome
subset: gard_rare
xref: GARD:0002415 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023208"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome xsd:anyURI {source="GARD:0002415"}

[Term]
id: MONDO:0023209
name: galactorrhoea-hyperprolactinaemia
subset: gard_rare
synonym: "galactorrhea-hyperprolactinemia" RELATED [GARD:0008400]
synonym: "galactorrhoea-hyperprolactinaemia" EXACT [MESH:C535402]
synonym: "hyperprolactinaemia" RELATED [GARD:0008400]
xref: GARD:0008400 {source="MONDO:equivalentTo"}
xref: MESH:C535402 {source="MONDO:equivalentTo"}
is_a: MONDO:0009256 {source="MESH:C535402"} ! galactorrhea (disease)
is_a: MONDO:0014250 ! familial hyperprolactinemia
property_value: exactMatch http://identifiers.org/mesh/C535402
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia xsd:anyURI {source="GARD:0008400"}

[Term]
id: MONDO:0023212
name: Garret-Tripp syndrome
subset: gard_rare
synonym: "Garret Tripp syndrome" RELATED [GARD:0002435]
synonym: "Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [GARD:0002435]
synonym: "mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [MESH:C535646]
synonym: "polydactyly alopecia seborrheic dermatitis" RELATED [GARD:0002435]
xref: GARD:0002435 {source="MONDO:equivalentTo"}
xref: MESH:C535646 {source="MONDO:equivalentTo"}
xref: UMLS:C2930965 {source="GARD:0002435", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023212"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C535646"} ! intellectual disability
relationship: disease_has_feature MONDO:0004907 {source="MESH:C535646"} ! alopecia
relationship: disease_has_feature MONDO:0006608 {source="MESH:C535646"} ! seborrheic dermatitis (disease)
relationship: disease_has_feature MONDO:0007885 {source="MESH:C535646"} ! Legg-Calve-Perthes disease
property_value: closeMatch Orphanet:2914
property_value: exactMatch http://identifiers.org/mesh/C535646
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930965
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome xsd:anyURI {source="GARD:0002435"}

[Term]
id: MONDO:0023214
name: gas bloat syndrome
subset: gard_rare
synonym: "post-fundoplication syndrome" RELATED [GARD:0006484, MESH:C535647]
xref: GARD:0006484 {source="MONDO:equivalentTo"}
xref: MESH:C535647 {source="MONDO:equivalentTo"}
xref: UMLS:C2930966 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0006484"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023214"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535647
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930966
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome xsd:anyURI {source="GARD:0006484"}

[Term]
id: MONDO:0023217
name: obsolete gastro-enteropancreatic neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0015078

[Term]
id: MONDO:0023221
name: Gaucher ichthyosis restrictive dermopathy
subset: gard_rare
xref: GARD:0002444 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy xsd:anyURI {source="GARD:0002444"}

[Term]
id: MONDO:0023224
name: inherited reflex epilepsy
def: "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare
synonym: "hereditary reflex epilepsy" EXACT [MONDO:patterns/hereditary]
xref: GARD:0002455 {source="MONDO:equivalentTo"}
is_a: MONDO:0017768 ! reflex epilepsy
is_a: MONDO:0019117 ! genetic nervous system disorder
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: has_modifier MONDO:0021152 ! inherited

[Term]
id: MONDO:0023226
name: gershinibaruch Leibo syndrome
subset: gard_rare
xref: GARD:0002464 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023226"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome xsd:anyURI {source="GARD:0002464"}

[Term]
id: MONDO:0023227
name: gestational diabetes insipidus
def: "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low." [PMID:20500966]
subset: gard_rare
synonym: "diabetes insipidus gestational" RELATED [GARD:0010702]
synonym: "Gestagenic diabetes insipidus" RELATED [GARD:0010702]
xref: GARD:0010702 {source="MONDO:equivalentTo"}
xref: MESH:C548014 {source="MONDO:equivalentTo"}
xref: UMLS:C2932666 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0010702"}
is_a: MONDO:0004782 {source="MESH:C548014"} ! diabetes insipidus
property_value: exactMatch http://identifiers.org/mesh/C548014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2932666
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus xsd:anyURI {source="GARD:0010702"}

[Term]
id: MONDO:0023230
name: Ghose-Sachdev-Kumar syndrome
subset: gard_rare
synonym: "bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma" RELATED [GARD:0002467]
xref: GARD:0002467 {source="MONDO:equivalentTo"}
xref: MESH:C537803 {source="MONDO:equivalentTo"}
xref: UMLS:C2974016 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023230"} ! syndromic disease
relationship: disease_has_feature MONDO:0005041 {source="MESH:C537803"} ! glaucoma (disease)
relationship: disease_has_feature MONDO:0019118 {source="MESH:C537803"} ! inherited retinal dystrophy
relationship: disease_has_feature MONDO:0021129 {source="MESH:C537803"} ! microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C537803
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2974016
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome xsd:anyURI {source="GARD:0002467"}

[Term]
id: MONDO:0023232
name: giant cell myocarditis
def: "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." [NCIT:C97055]
subset: gard_rare
synonym: "GCM" RELATED [GARD:0006502]
synonym: "giant cell myocarditis" EXACT [NCIT:C97055]
synonym: "idiopathic giant-cell myocarditis" RELATED [GARD:0006502]
xref: GARD:0006502 {source="MONDO:equivalentTo"}
xref: NCIT:C97055 {source="MONDO:equivalentTo"}
xref: SCTID:60812006 {source="MONDO:equivalentTo"}
xref: UMLS:C0264856 {source="MEDGEN:kboom-pr98-c99", source="GARD:0006502", source="MONDO:equivalentTo", source="NCIT:C97055"}
is_a: MONDO:0002815 {source="NCIT:C97055"} ! acute myocarditis
property_value: exactMatch http://identifiers.org/snomedct/60812006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264856
property_value: exactMatch NCIT:C97055
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis xsd:anyURI {source="GARD:0006502"}

[Term]
id: MONDO:0023235
name: giant congenital nevus
def: "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors." [NCIT:C4234]
subset: gard_rare
synonym: "bathing trunk Nevus" EXACT [NCIT:C4234]
synonym: "bathing trunk nevus" RELATED [GARD:0002469]
synonym: "congenital giant pigmented nevus" RELATED [GARD:0002469]
synonym: "congenital hairy nevus" RELATED [GARD:0002469]
synonym: "giant congenital melanocytic nevus" RELATED [GARD:0002469]
synonym: "giant congenital Nevus" EXACT [NCIT:C4234]
synonym: "giant hairy nevus" RELATED [GARD:0002469]
synonym: "giant pigmented hairy nevus" RELATED [GARD:0002469]
synonym: "giant pigmented nevus" RELATED [GARD:0002469]
synonym: "giant pigmented Nevus of skin" EXACT [NCIT:C4234]
synonym: "giant pigmented Nevus of the skin" EXACT [NCIT:C4234]
synonym: "GPHN" RELATED [GARD:0002469]
synonym: "large congenital melanocytic nevus" RELATED [GARD:0002469]
xref: GARD:0002469 {source="MONDO:equivalentTo"}
xref: ICDO:8761/1 {source="NCIT:C4234"}
xref: NCIT:C4234 {source="MONDO:equivalentTo"}
xref: SCTID:254815002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="MONDO:cjm", source="NCIT:C4234/inferred", source="linkedlifedata/inferred"} ! melanocytic nevus
property_value: exactMatch http://identifiers.org/snomedct/254815002
property_value: exactMatch NCIT:C4234
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus xsd:anyURI {source="GARD:0002469"}

[Term]
id: MONDO:0023238
name: giant mammary hamartoma
subset: gard_rare
synonym: "giant hamartoma of the breast" RELATED [GARD:0000208, MESH:C536818]
xref: GARD:0000208 {source="MONDO:equivalentTo"}
xref: MESH:C536818 {source="MONDO:equivalentTo"}
xref: UMLS:C2931343 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000208"}
is_a: MONDO:0006499 {source="MESH:C536818"} ! hamartoma (disease)
property_value: exactMatch http://identifiers.org/mesh/C536818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931343
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma xsd:anyURI {source="GARD:0000208"}

[Term]
id: MONDO:0023240
name: gigantism advanced bone age hoarse cry
subset: gard_rare
xref: GARD:0002471 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry xsd:anyURI {source="GARD:0002471"}

[Term]
id: MONDO:0023243
name: glass-chapman-hockley syndrome
def: "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant . No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported." [GARD:0002479]
subset: gard_rare
subset: n_of_one
synonym: "craniosynostosis - dysmorphism - brachydactyly" RELATED [GARD:0002479]
synonym: "craniosynostosis brachydactyly" RELATED [GARD:0002479]
synonym: "craniosynostosis with facial dysmorphism and brachydactyly syndrome" EXACT []
synonym: "craniosynostosis-dysmorphism-brachydactyly syndrome" RELATED [GARD:0002479]
synonym: "glass chapman hockley syndrome" RELATED []
xref: GARD:0002479 {source="MONDO:equivalentTo"}
xref: Orphanet:1535 {source="GARD:0002479", source="MONDO:equivalentTo"}
xref: SCTID:720814001 {source="MONDO:equivalentTo"}
xref: UMLS:C4303810 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000426 {source="linkedlifedata"} ! autosomal dominant disease
is_a: MONDO:0015469 {source="MONDOLEX:0023243", source="Orphanet:1535/inferred"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/snomedct/720814001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303810
property_value: exactMatch Orphanet:1535
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome xsd:anyURI {source="GARD:0002479"}

[Term]
id: MONDO:0023246
name: linear porokeratosis
def: "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." [GARD:0009515]
subset: gard_rare
synonym: "Congenital facial linear porokeratosis (type)" RELATED [GARD:0009515]
synonym: "Linear Porokeratosis" RELATED [MSH:D017499]
synonym: "Linear porokeratosis" RELATED [UMLS:C0302319]
synonym: "Porokeratosis, Linear" RELATED [MSH:D017499]
synonym: "Zosteriform porokeratosis" RELATED [UMLS:C0302319]
xref: SCTID:238631008 {source="MONDO:equivalentTo", source="UMLS:C0302319"}
xref: UMLS:C0302319 {source="GARD:0009515", source="MONDO:equivalentTo"}
is_a: MONDO:0006602 ! porokeratosis (disease)
property_value: exactMatch http://identifiers.org/snomedct/238631008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302319

[Term]
id: MONDO:0023249
name: polyarticular juvenile rheumatoid arthritis
subset: gard_rare
synonym: "Juvenile polyarthritis rheumatoid factor negative" RELATED [GARD:0010967]
synonym: "Juvenile polyarthritis rheumatoid factor positive" RELATED [GARD:0010967]
synonym: "Polyarticular juvenile rheumatoid arthritis" RELATED [GARD:0010967, UMLS:C0311221]
xref: GARD:0010967 {source="MONDO:equivalentTo"}
xref: SCTID:445479007 {source="UMLS:C0311221", source="MONDO:equivalentTo"}
xref: UMLS:C0311221 {source="MONDO:equivalentTo"}
is_a: MONDO:0008383 ! rheumatoid arthritis
relationship: has_modifier MONDO:0021136 {source="GARD:0010967"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/445479007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311221

[Term]
id: MONDO:0023250
name: global disaccharide intolerance
subset: gard_rare
xref: GARD:0008386 {source="MONDO:equivalentTo"}
is_a: MONDO:0009114 {source="MONDO:cjm"} ! congenital sucrase-isomaltase deficiency
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance xsd:anyURI {source="GARD:0008386"}

[Term]
id: MONDO:0023255
name: glossopalatine ankylosis micrognathia ear anomalies
subset: gard_rare
xref: GARD:0002495 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies xsd:anyURI {source="GARD:0002495"}

[Term]
id: MONDO:0023258
name: glycogen storage disease type 1 due to SLC37A4 mutation
def: "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." [MONDO:patterns/disease_series_by_gene]
comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
subset: gard_rare
synonym: "G6P translocase deficiency" EXACT [GARD:0002501]
synonym: "glucose-6-phosphate translocase deficiency" EXACT [GARD:0002501]
synonym: "glycogen storage disease I caused by mutation in SLC37A4" EXACT [MONDO:design_pattern]
synonym: "SLC37A4 glycogen storage disease I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0002501 {source="MONDO:equivalentTo"}
xref: HGNC:4061 {source="GARD:0002501"}
xref: MESH:C536831 {source="MONDO:equivalentTo"}
xref: UMLS:C2931345 {source="MEDGEN:kboom-pr98-c99", source="GARD:0002501", source="MONDO:equivalentTo"}
is_a: MONDO:0002413 {source="MESH:C536831", source="MONDO:Entailed", source="MONDO:Redundant"} ! glycogen storage disease I
property_value: exactMatch http://identifiers.org/mesh/C536831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931345
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency xsd:anyURI {source="GARD:0002501"}

[Term]
id: MONDO:0023263
name: glyceraldehyde-3-phosphate dehydrogenase deficiency
subset: gard_rare
synonym: "GAPDH deficiency" RELATED [GARD:0002510]
xref: GARD:0002510 {source="MONDO:equivalentTo"}
xref: HGNC:4141 {source="GARD:0002510"}
xref: MESH:C536837 {source="MONDO:equivalentTo"}
xref: UMLS:C1291264 {source="GARD:0002510", source="MONDO:equivalentTo"}
is_a: MONDO:0002908 {source="MESH:C536837"} ! glucose metabolism disease
property_value: exactMatch http://identifiers.org/mesh/C536837
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291264
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency xsd:anyURI {source="GARD:0002510"}

[Term]
id: MONDO:0023267
name: goldstein hutt syndrome
synonym: "long eyelashes, cataract, and hereditary spherocytosis" RELATED [MESH:C537282]
synonym: "trichomegaly, cataract, and hereditary spherocytosis" RELATED [MESH:C537282]
xref: MESH:C537282 {source="MONDO:equivalentTo"}
xref: UMLS:C2931465 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023267"} ! syndromic disease
relationship: disease_has_feature MONDO:0005129 {source="MESH:C537282"} ! cataract (disease)
relationship: disease_has_feature MONDO:0019350 {source="MESH:C537282"} ! hereditary spherocytosis
property_value: exactMatch http://identifiers.org/mesh/C537282
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931465

[Term]
id: MONDO:0023272
name: goniodysgenesis mental retardation short stature
subset: gard_rare
xref: GARD:0002545 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature xsd:anyURI {source="GARD:0002545"}

[Term]
id: MONDO:0023273
name: pigmented dermatofibrosarcoma protuberans
def: "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells." [NCIT:C9430]
subset: gard_rare
synonym: "Bednar Tumor" RELATED [MSH:D018223, NCIT:C9430]
synonym: "Bednar tumor" RELATED [SNOMEDCT_US:398670003, SNOMEDCT_US:62621002]
synonym: "bednar tumor" EXACT [NCIT:C9430]
synonym: "Bednar's Tumor" RELATED [MSH:D018223]
synonym: "Bednars Tumor" RELATED [MSH:D018223]
synonym: "Dermatofibrosarcoma Protuberan, Pigmented" RELATED [MSH:D018223]
synonym: "Dermatofibrosarcoma Protuberans, Pigmented" RELATED [MSH:D018223]
synonym: "DFSP, Pigmented" RELATED [MSH:D018223]
synonym: "DFSPs, Pigmented" RELATED [MSH:D018223]
synonym: "Pigmented dermatofibrosarcoma" RELATED [UMLS:C0334464]
synonym: "Pigmented Dermatofibrosarcoma Protuberan" RELATED [MSH:D018223]
synonym: "Pigmented Dermatofibrosarcoma Protuberans" RELATED [MSH:D018223, NCIT:C9430]
synonym: "Pigmented dermatofibrosarcoma protuberans" RELATED [GARD:0009624, UMLS:C0334464]
synonym: "pigmented dermatofibrosarcoma protuberans" EXACT [NCIT:C9430]
synonym: "Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)" RELATED [NCIT:C9430]
synonym: "pigmented dermatofibrosarcoma protuberans (bednar tumor)" EXACT [NCIT:C9430]
synonym: "Pigmented dermatofibrosarcoma protuberans of skin" RELATED [UMLS:C0334464]
synonym: "Pigmented DFSP" RELATED [MSH:D018223]
synonym: "Pigmented DFSPs" RELATED [MSH:D018223]
synonym: "Pigmented storiform neurofibroma" RELATED [UMLS:C0334464]
synonym: "Protuberan, Pigmented Dermatofibrosarcoma" RELATED [MSH:D018223]
synonym: "Protuberans, Pigmented Dermatofibrosarcoma" RELATED [MSH:D018223]
synonym: "Tumor, Bednar" RELATED [MSH:D018223]
synonym: "Tumor, Bednar's" RELATED [MSH:D018223]
xref: GARD:0009624 {source="MONDO:equivalentTo"}
xref: NCIT:C9430 {source="UMLS:C0334464", source="MONDO:equivalentTo"}
xref: SCTID:398670003 {source="UMLS:C0334464", source="MONDO:equivalentTo"}
xref: UMLS:C0334464 {source="GARD:0009624", source="MONDO:equivalentTo"}
is_a: MONDO:0011934 {source="NCIT:C9430", source="UMLS:C0334464"} ! dermatofibrosarcoma protuberans
property_value: closeMatch http://identifiers.org/snomedct/62621002
property_value: exactMatch http://identifiers.org/snomedct/398670003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334464
property_value: exactMatch NCIT:C9430

[Term]
id: MONDO:0023275
name: Graham-Boyle-Troxell syndrome
def: "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." [Orphanet:2111]
subset: gard_rare
subset: ordo_disease
synonym: "cystic hamartoma of lung and kidney" EXACT [GARD:0002557]
synonym: "cystic hamartomata of lung and kidney" RELATED [MESH:C537292]
synonym: "graham Boyle Troxell syndrome" EXACT []
synonym: "Graham-Boyle-Troxell syndrome" EXACT [Orphanet:2111]
xref: GARD:0002557 {source="MONDO:equivalentTo"}
xref: ICD10:Q85.8 {source="Orphanet:2111"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C537292 {source="MONDO:equivalentTo"}
xref: Orphanet:2111 {source="MONDO:equivalentTo", source="GARD:0002557"}
xref: SCTID:707530009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931468 {source="Orphanet:2111", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="GARD:0002557"}
is_a: MONDO:0002367 {source="MESH:C537292"} ! kidney cancer
is_a: MONDO:0008903 ! lung cancer
is_a: MONDO:0019721 {source="Orphanet:2111"} ! syndromic renal or urinary tract malformation
is_a: MONDO:0021540 {source="MONDOLEX:0023275", source="linkedlifedata"} ! hamartoma of lung
property_value: exactMatch http://identifiers.org/mesh/C537292
property_value: exactMatch http://identifiers.org/snomedct/707530009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931468
property_value: exactMatch Orphanet:2111
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome xsd:anyURI {source="GARD:0002557"}

[Term]
id: MONDO:0023282
name: granulomatous hypophysitis
def: "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." [doi:10.1002/ccr3.1007]
subset: gard_rare
synonym: "idiopathic granulomatous hypophysitis" RELATED [GARD:0006547]
xref: GARD:0006547 {source="MONDO:equivalentTo"}
is_a: MONDO:0021156 {source="doi:10.1002/ccr3.1007"} ! hypophysitis
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis xsd:anyURI {source="GARD:0006547"}

[Term]
id: MONDO:0023283
name: ovarian granulosa cell tumor
def: "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [NCIT:C6261]
synonym: "adult granulosa cell tumor of the ovary" RELATED [MESH:C537296]
synonym: "GCT of the ovary" RELATED [MESH:C537296]
synonym: "granulosa cell neoplasm of ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell neoplasm of the ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell tumor of ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell tumor of the ovary" EXACT [NCIT:C6261]
synonym: "granulosa theca cell tumor" RELATED [MESH:C537296]
synonym: "granulosa theca cell tumor of the ovary" RELATED [MESH:C537296]
synonym: "ovarian granulosa cell neoplasm" EXACT [NCIT:C6261]
synonym: "ovarian granulosa cell tumor" EXACT [NCIT:C6261]
synonym: "ovary granulosa cell tumor" EXACT [MONDO:patterns/location]
xref: EFO:1000421 {source="MONDO:equivalentTo"}
xref: MESH:C537296 {source="MONDO:equivalentTo"}
xref: NCIT:C6261 {source="MONDO:equivalentTo"}
xref: SCTID:254863004 {source="MONDO:equivalentTo"}
xref: UMLS:C1370419 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6261"}
is_a: MONDO:0006036 {source="MESH:C537296", source="MONDO:Redundant", source="NCIT:C6261"} ! granulosa cell tumor
is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C6261/inferred"} ! ovarian sex cord-stromal tumor
property_value: exactMatch http://identifiers.org/mesh/C537296
property_value: exactMatch http://identifiers.org/snomedct/254863004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370419
property_value: exactMatch NCIT:C6261

[Term]
id: MONDO:0023286
name: graphite pneumoconiosis
subset: gard_rare
synonym: "carbon pneumoconiosis" RELATED [GARD:0008359]
synonym: "graphite fibrosis" RELATED []
synonym: "graphite fibrosis of lung" EXACT []
synonym: "graphite lung disease" RELATED []
synonym: "graphite pneumoconiosis" EXACT []
synonym: "graphitosis" RELATED []
xref: GARD:0008359 {source="MONDO:equivalentTo"}
xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:17385007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264439 {source="GARD:0008359", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002771 {source="linkedlifedata"} ! pulmonary fibrosis
is_a: MONDO:0015926 ! pneumoconiosis
property_value: exactMatch http://identifiers.org/snomedct/17385007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264439
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis xsd:anyURI {source="GARD:0008359"}

[Term]
id: MONDO:0023288
name: green sandford davison syndrome
subset: gard_rare
synonym: "anal anomalies, renal tract abnormalities, genital malformations, and syndactyly" RELATED [GARD:0002447]
synonym: "renal and anogenital malformations with syndactyly" RELATED [GARD:0002447]
xref: GARD:0002447 {source="MONDO:equivalentTo"}
xref: MESH:C538221 {source="MONDO:equivalentTo"}
xref: UMLS:C2931777 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023288"} ! syndromic disease
property_value: closeMatch http://identifiers.org/omim/601446
property_value: exactMatch http://identifiers.org/mesh/C538221
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931777
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome xsd:anyURI {source="GARD:0002447"}

[Term]
id: MONDO:0023290
name: grix Blankenship Peterson syndrome
subset: gard_rare
synonym: "craniofacial and osseous defects mental retardation" RELATED [GARD:0002567]
xref: GARD:0002567 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023290"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome xsd:anyURI {source="GARD:0002567"}

[Term]
id: MONDO:0023297
name: guttate psoriasis
def: "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis . The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." [GARD:0010569]
subset: gard_rare
synonym: "guttate psoriasis" EXACT []
synonym: "psoriasis guttata" RELATED []
synonym: "psoriasis guttate" RELATED [GARD:0010569]
xref: GARD:0010569 {source="MONDO:equivalentTo"}
xref: ICD10:L40.4 {source="MONDO:equivalentTo"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:37042000 {source="MONDO:equivalentTo"}
xref: UMLS:C0343052 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0010569"}
is_a: MONDO:0005083 {source="ICD10:L40.4", source="linkedlifedata"} ! psoriasis
property_value: exactMatch http://identifiers.org/snomedct/37042000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343052
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis xsd:anyURI {source="GARD:0010569"}

[Term]
id: MONDO:0023303
name: obsolete Hamanishi-Ueba-Tsuji syndrome
is_obsolete: true
replaced_by: MONDO:0008809

[Term]
id: MONDO:0023305
name: heavy metal poisoning
def: "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." [GARD:0006577]
subset: gard_rare
synonym: "chronic heavy metal poisoning" RELATED [GARD:0006577, MESH:C535854]
synonym: "heavy metal poisoning" EXACT [MESH:C535854]
synonym: "heavy metal toxicity" RELATED [GARD:0006577]
synonym: "heavy metal toxicosis" RELATED []
synonym: "toxic effect of heavy metal" EXACT []
xref: EFO:1001518 {source="MONDO:equivalentTo"}
xref: GARD:0006577 {source="MONDO:equivalentTo"}
xref: ICD9:985.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:C535854 {source="MONDO:equivalentTo"}
xref: SCTID:85866007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:cjm"} ! poisoning
relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0274869
property_value: exactMatch http://identifiers.org/mesh/C535854
property_value: exactMatch http://identifiers.org/snomedct/85866007
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning xsd:anyURI {source="GARD:0006577"}

[Term]
id: MONDO:0023310
name: obsolete hemiplegic migraine
is_obsolete: true
replaced_by: MONDO:0018925

[Term]
id: MONDO:0023368
name: Ho-Kaufman-McAlister syndrome
def: "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" [GARD:0001266]
subset: gard_rare
synonym: "cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" RELATED [GARD:0001266]
synonym: "Ho Kaufman McAlister syndrome" RELATED [GARD:0001266]
xref: GARD:0001266 {source="MONDO:equivalentTo"}
xref: MESH:C538325 {source="MONDO:equivalentTo"}
xref: UMLS:C2931819 {source="GARD:0001266", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023368"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C538325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931819
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome xsd:anyURI {source="GARD:0001266"}

[Term]
id: MONDO:0023369
name: disease of facial skeleton
def: "A disease that involves the facial skeleton." [MONDO:patterns/location]
synonym: "disease of facial skeleton" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of facial skeleton" EXACT []
synonym: "disorder of facial skeleton" EXACT [MONDO:patterns/location_top]
synonym: "disorder of facial skeleton" RELATED [MONDO:patterns/location_top]
synonym: "facial skeleton disease" EXACT [MONDO:patterns/location]
synonym: "facial skeleton disease or disorder" EXACT [MONDO:patterns/location]
synonym: "maxillo-facial disease" EXACT [MONDO:cjm]
synonym: "maxillofacial anomaly" EXACT [MONDO:cjm]
is_a: MONDO:0024654 ! skull disorder
is_a: MONDO:0044987 ! face disease

[Term]
id: MONDO:0023370
name: neoplastic disease or syndrome
def: "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." [MONDO:cjm]
synonym: "neoplastic disease" RELATED []
synonym: "neoplastic disorder" RELATED []
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder
union_of: MONDO:0005070 ! neoplasm (disease)
union_of: MONDO:0021058 ! neoplastic syndrome

[Term]
id: MONDO:0023388
name: pityriasis rotunda
def: "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." [GARD:0010904]
subset: gard_rare
synonym: "Pityriasis rotunda" RELATED [UMLS:C0343060]
xref: GARD:0010904 {source="MONDO:equivalentTo"}
xref: SCTID:238639005 {source="MONDO:equivalentTo", source="UMLS:C0343060"}
xref: UMLS:C0343060 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
relationship: has_modifier MONDO:0021136 {source="GARD:0010904"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/238639005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343060

[Term]
id: MONDO:0023415
name: congenital candidiasis
def: "A fungal infection by any of the Candida species that is present at birth." [NCIT:C116811]
synonym: "Congenital Candidiasis" RELATED [NCIT:C116811]
synonym: "Congenital candidiasis" RELATED [UMLS:C0343875]
synonym: "congenital candidiasis" EXACT [NCIT:C116811]
synonym: "Congenital candidosis" RELATED [UMLS:C0343875]
xref: MEDGEN:575892 {source="UMLS:C0343875"}
xref: NCIT:C116811 {source="MONDO:equivalentTo", source="UMLS:C0343875"}
xref: SCTID:276672007 {source="MONDO:equivalentTo", source="UMLS:C0343875"}
xref: UMLS:C0343875 {source="MONDO:equivalentTo"}
is_a: MONDO:0002026 {source="NCIT:C116811", source="UMLS:C0343875"} ! candidiasis
property_value: closeMatch http://identifiers.org/medgen/575892
property_value: exactMatch http://identifiers.org/snomedct/276672007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343875
property_value: exactMatch NCIT:C116811

[Term]
id: MONDO:0023419
name: hyperprolinemia
def: "Hyperprolinemia is when there isan excess of a particular protein building block ( amino acid ), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2 . People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures , intellectual disability , or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." [GARD:0002847]
subset: gard_rare
synonym: "hyperprolinemia type 1" RELATED [GARD:0002847]
synonym: "proline hydrogenase deficiency" RELATED [GARD:0002847]
synonym: "proline oxidase deficiency" RELATED [GARD:0002847]
xref: GARD:0002847 {source="MONDO:equivalentTo"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:59655002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268528 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0017355 {source="MONDO:cjm"} ! inborn disorder of proline metabolism
property_value: exactMatch http://identifiers.org/snomedct/59655002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268528
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia xsd:anyURI {source="GARD:0002847"}

[Term]
id: MONDO:0023472
name: chondrodysplasia situs inversus imperforate anus polydactyly
subset: gard_rare
synonym: "impossible syndrome" RELATED [GARD:0001299]
xref: GARD:0001299 {source="MONDO:equivalentTo"}
is_a: MONDO:0022723 ! chondrodysplasia
property_value: closeMatch Orphanet:1424
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly xsd:anyURI {source="GARD:0001299"}

[Term]
id: MONDO:0023483
name: infectious myositis
def: "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." [NCIT:C26984]
subset: gard_rare
synonym: "infectious myositis" EXACT [NCIT:C26984]
synonym: "infective myositis" EXACT [NCIT:C26984]
xref: GARD:0009131 {source="MONDO:equivalentTo"}
xref: ICD9:728.0 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C26984 {source="MONDO:equivalentTo"}
xref: SCTID:29689003 {source="MONDO:equivalentTo"}
is_a: MONDO:0016125 ! infectious, fungal or parasitic myopathy
is_a: MONDO:0021167 {source="MONDOLEX:0023483", source="NCIT:C26984", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158353
property_value: exactMatch http://identifiers.org/snomedct/29689003
property_value: exactMatch NCIT:C26984
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9131/infective-myositis xsd:anyURI {source="GARD:0009131"}

[Term]
id: MONDO:0023510
name: Jaffer-Beighton syndrome
subset: gard_rare
synonym: "arachnodactyly, joint laxity, and spondylolisthesis" RELATED [GARD:0003040, MESH:C537561]
synonym: "Jaffer Beighton syndrome" RELATED [GARD:0003040]
xref: GARD:0003040 {source="MONDO:equivalentTo"}
xref: MESH:C537561 {source="MONDO:equivalentTo"}
xref: UMLS:C2931533 {source="MONDO:equivalentTo", source="GARD:0003040"}
is_a: MONDO:0002254 {source="MONDOLEX:0023510"} ! syndromic disease
is_a: MONDO:0008475 {source="MESH:C537561"} ! spondylolisthesis (disease)
property_value: exactMatch http://identifiers.org/mesh/C537561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931533
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome xsd:anyURI {source="GARD:0003040"}

[Term]
id: MONDO:0023513
name: Jeune syndrome situs inversus
comment: Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105
subset: gard_rare
subset: n_of_one
xref: GARD:0000303 {source="MONDO:equivalentTo"}
xref: MESH:C537572 {source="MONDO:equivalentTo"}
xref: UMLS:C2931535 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000303", source="MONDO:equivalentTo"}
is_a: MONDO:0009162 {source="MESH:C537572"} ! Ellis-van Creveld syndrome
relationship: disease_has_feature MONDO:0010029 {source="MESH:C537572"} ! situs inversus
property_value: exactMatch http://identifiers.org/mesh/C537572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931535
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus xsd:anyURI {source="GARD:0000303"}

[Term]
id: MONDO:0023521
name: Judge Misch wright syndrome
subset: gard_rare
synonym: "dry skin, photophobia hyperkeratosis, abnormal fingernails" RELATED [GARD:0003061, MESH:C537692]
synonym: "keratodermia palmoplantar periorificial" RELATED [GARD:0003061, MESH:C537692]
synonym: "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" RELATED [GARD:0003061, MESH:C537692]
xref: GARD:0003061 {source="MONDO:equivalentTo"}
xref: MESH:C537692 {source="MONDO:equivalentTo"}
xref: UMLS:C2931590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003061"}
is_a: MONDO:0002884 {source="MESH:C537692"} ! nail disease
is_a: MONDO:0006548 {source="MESH:C537692"} ! facial dermatosis
is_a: MONDO:0020215 ! syndromic corneal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931590
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome xsd:anyURI {source="GARD:0003061"}

[Term]
id: MONDO:0023528
name: KSHV inflammatory cytokine syndrome
def: "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." [NCIT:C125711]
subset: gard_rare
synonym: "Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome" EXACT [NCIT:C125711]
synonym: "KICS" EXACT [GARD:0010827, NCIT:C125711]
synonym: "KSHV inflammatory cytokine syndrome" EXACT [NCIT:C125711]
xref: GARD:0010827 {source="MONDO:equivalentTo"}
xref: NCIT:C125711 {source="MONDO:equivalentTo"}
xref: UMLS:C4086533 {source="MONDO:equivalentTo", source="NCIT:C125711"}
is_a: MONDO:0021670 ! post-infectious syndrome
relationship: disease_has_feature MONDO:0005055 ! Kaposi's sarcoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4086533
property_value: exactMatch NCIT:C125711
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome xsd:anyURI {source="GARD:0010827"}

[Term]
id: MONDO:0023530
name: kallikrein hypertension
subset: gard_rare
synonym: "kallikrein attenuated hypertension" RELATED [GARD:0006811, MESH:C537707]
xref: GARD:0006811 {source="MONDO:equivalentTo"}
xref: HGNC:6357 {source="GARD:0006811", source="MONDO:otherHierarchy"}
xref: MESH:C537707 {source="MONDO:equivalentTo"}
xref: UMLS:C1171349 {source="GARD:0006811", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="MESH:C537707"} ! hypertensive disorder
property_value: exactMatch http://identifiers.org/mesh/C537707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1171349
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension xsd:anyURI {source="GARD:0006811"}

[Term]
id: MONDO:0023538
name: Kaplowitz-Bodurtha syndrome
synonym: "congenital hypopituitarism and microphthalmia" RELATED [MESH:C536893]
synonym: "hypopituitarism microphthalmia" RELATED [MESH:C536893]
xref: MESH:C536893 {source="MONDO:equivalentTo"}
xref: UMLS:C2931361 {source="MONDO:equivalentTo"}
is_a: MONDO:0005152 {source="MESH:C536893"} ! hypopituitarism
is_a: MONDO:0021129 {source="MESH:C536893"} ! microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C536893
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931361

[Term]
id: MONDO:0023540
name: Kashani-Strom-Utley syndrome
alt_id: MONDO:0023539
subset: gard_rare
synonym: "hypoplastic pulmonary arteries and aorta with obstructive uropathy" RELATED [GARD:0000191, MESH:C537010]
synonym: "Kashani Strom Utley syndrome" RELATED [GARD:0000191]
synonym: "pulmonary aortic stenosis obstructive uropathy" RELATED [GARD:0000191, MESH:C537010]
xref: GARD:0000191 {source="MONDO:equivalentTo"}
xref: MESH:C537010 {source="MONDO:equivalentTo"}
xref: Orphanet:1137 {source="MONDO:equivalentTo"}
xref: UMLS:C2931392 {source="MONDO:equivalentTo", source="GARD:0000191"}
is_a: MONDO:0002254 {source="MONDOLEX:0023540"} ! syndromic disease
relationship: disease_has_feature MONDO:0001556 {source="MESH:C537010"} ! urethral obstruction (disease)
relationship: disease_has_feature MONDO:0005275 {source="MESH:C537010"} ! lung disease
property_value: exactMatch http://identifiers.org/mesh/C537010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931392
property_value: exactMatch Orphanet:1137

[Term]
id: MONDO:0023541
name: Kasznica-Carlson-Coppedge syndrome
subset: gard_rare
synonym: "ectrodactyly spina bifida cardiopathy" RELATED [GARD:0003080, MESH:C537011]
synonym: "ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery" RELATED [GARD:0003080]
synonym: "Kasznica Carlson Coppedge syndrome" RELATED [GARD:0003080]
xref: GARD:0003080 {source="MONDO:equivalentTo"}
xref: MESH:C537011 {source="MONDO:equivalentTo"}
xref: UMLS:C2931393 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003080"}
is_a: MONDO:0002254 {source="MONDOLEX:0023541"} ! syndromic disease
relationship: disease_has_feature MONDO:0017069 ! spina bifida cystica
property_value: closeMatch Orphanet:1894
property_value: exactMatch http://identifiers.org/mesh/C537011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931393
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome xsd:anyURI {source="GARD:0003080"}

[Term]
id: MONDO:0023543
name: Katsantoni-Papadakou-Lagoyanni syndrome
subset: gard_rare
synonym: "Katsantoni Papadakou Lagoyanni syndrome" RELATED [GARD:0003081]
synonym: "Trichodermal syndrome and mental retardation" RELATED [GARD:0003081, MESH:C537012]
xref: GARD:0003081 {source="MONDO:equivalentTo"}
xref: MESH:C537012 {source="MONDO:equivalentTo"}
xref: UMLS:C2931394 {source="GARD:0003081", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0002917 {source="MESH:C537012"} ! disease of pilosebaceous unit
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537012", comment="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537012
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931394
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome xsd:anyURI {source="GARD:0003081"}

[Term]
id: MONDO:0023551
name: C1q nephropathy
def: "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome." [GARD:0012136]
subset: gard_rare
synonym: "C1q nephropathy" RELATED [UMLS:C0403434]
xref: GARD:0012136 {source="MONDO:equivalentTo"}
xref: SCTID:236412002 {source="UMLS:C0403434", source="MONDO:equivalentTo"}
xref: UMLS:C0403434 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 ! kidney disease
relationship: has_modifier MONDO:0021136 {source="GARD:0012136"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/236412002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403434

[Term]
id: MONDO:0023554
name: acquired testicular failure
def: "Testicular failure, the cause of which is not present at birth." [NCIT:C131091]
synonym: "Acquired Testicular Failure" RELATED [NCIT:C131091]
synonym: "Acquired testicular failure" RELATED [UMLS:C0403818]
synonym: "acquired testicular failure" EXACT [NCIT:C131091]
xref: NCIT:C131091 {source="MONDO:equivalentTo", source="UMLS:C0403818"}
xref: SCTID:236811002 {source="MONDO:equivalentTo", source="UMLS:C0403818"}
xref: UMLS:C0403818 {source="MONDO:equivalentTo"}
is_a: MONDO:0005372 ! male infertility
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/236811002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403818
property_value: exactMatch NCIT:C131091

[Term]
id: MONDO:0023557
name: infective vaginitis
def: "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." [NCIT:C84353]
synonym: "Infective vaginitis" RELATED [UMLS:C0404521]
synonym: "PV - Vaginal infection" RELATED [UMLS:C0404521]
synonym: "Vaginal Infection" RELATED [NCIT:C84353]
synonym: "Vaginal infection" RELATED [UMLS:C0404521]
synonym: "vaginal infection" EXACT [NCIT:C84353]
xref: NCIT:C84353 {source="UMLS:C0404521", source="MONDO:equivalentTo"}
xref: SCTID:237091009 {source="UMLS:C0404521", source="MONDO:equivalentTo"}
xref: UMLS:C0404521 {source="MONDO:equivalentTo"}
is_a: MONDO:0002234 {source="NCIT:C84353", source="UMLS:C0404521"} ! vaginitis (disease)
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/snomedct/237091009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0404521
property_value: exactMatch NCIT:C84353

[Term]
id: MONDO:0023558
name: Kocher-debre-Semelaigne syndrome
subset: gard_rare
synonym: "association of muscular pseudohypertrophy and hypothyroidism in children" RELATED [GARD:0008270]
synonym: "Kocher debre Semelaigne disease" RELATED [GARD:0008270, MESH:C537211]
xref: GARD:0008270 {source="MONDO:equivalentTo"}
xref: MESH:C537211 {source="MONDO:equivalentTo"}
is_a: MONDO:0005218 {source="MESH:C537211"} ! muscular disease
is_a: MONDO:0015778 ! syndromic hypothyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270958
property_value: exactMatch http://identifiers.org/mesh/C537211
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome xsd:anyURI {source="GARD:0008270"}

[Term]
id: MONDO:0023561
name: Koone-Rizzo-Elias syndrome
subset: gard_rare
synonym: "ichthyosis, mental retardation and asymptomatic spasticity" RELATED [GARD:0003131, MESH:C537023]
synonym: "Koone Rizzo Elias syndrome" RELATED [GARD:0003131]
xref: GARD:0003131 {source="MONDO:equivalentTo"}
xref: MESH:C537023 {source="MONDO:equivalentTo"}
xref: UMLS:C2931397 {source="MONDO:equivalentTo", source="GARD:0003131"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0019269 {source="MESH:C537023"} ! ichthyosis (disease)
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537023", comment="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931397
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome xsd:anyURI {source="GARD:0003131"}

[Term]
id: MONDO:0023563
name: Kotzot-Richter syndrome
subset: gard_rare
synonym: "albinism with immune and hematologic defects" RELATED [GARD:0003134, MESH:C537025]
synonym: "oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" RELATED [GARD:0003134, MESH:C537025]
xref: GARD:0003134 {source="MONDO:equivalentTo"}
xref: MESH:C537025 {source="MONDO:equivalentTo"}
xref: UMLS:C2931399 {source="GARD:0003134", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019312 {source="MESH:C537025"} ! Hermansky-Pudlak syndrome
property_value: closeMatch http://identifiers.org/omim/203285
property_value: exactMatch http://identifiers.org/mesh/C537025
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931399
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome xsd:anyURI {source="GARD:0003134"}

[Term]
id: MONDO:0023567
name: Kozlowski Brown Hardwick syndrome
subset: gard_rare
synonym: "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" RELATED [GARD:0003136]
xref: GARD:0003136 {source="MONDO:equivalentTo"}
xref: MESH:C537506 {source="MONDO:equivalentTo"}
xref: UMLS:C2931511 {source="GARD:0003136", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023567"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537506
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931511
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome xsd:anyURI {source="GARD:0003136"}

[Term]
id: MONDO:0023569
name: Kozlowski Ouvrier syndrome
subset: gard_rare
synonym: "agenesis of the corpus callosum with mental retardation and osseous lesions" RELATED [GARD:0003139, MESH:C537508]
xref: GARD:0003139 {source="MONDO:equivalentTo"}
xref: MESH:C537508 {source="MONDO:equivalentTo"}
xref: UMLS:C2931512 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003139", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0009022 {source="MESH:C537508"} ! corpus callosum, agenesis of
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537508", source="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537508
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931512
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome xsd:anyURI {source="GARD:0003139"}

[Term]
id: MONDO:0023571
name: Kozlowski Rafinski Klicharska syndrome
subset: gard_rare
synonym: "metaphyseal and epiphyseal dysplasia with unusual facies and cataract" RELATED [GARD:0003140, MESH:C537509]
xref: GARD:0003140 {source="MONDO:equivalentTo"}
xref: MESH:C537509 {source="MONDO:equivalentTo"}
xref: UMLS:C2931513 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003140"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0020225 ! syndromic cataract
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537509", source="MONDO:Redundant"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537509
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931513
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome xsd:anyURI {source="GARD:0003140"}

[Term]
id: MONDO:0023573
name: Kozlowski Warren Fisher syndrome
subset: gard_rare
synonym: "cloverleaf skull generalised bone dysplasia" RELATED [GARD:0000353, MESH:C537614]
xref: GARD:0000353 {source="MONDO:equivalentTo"}
xref: MESH:C537614 {source="MONDO:equivalentTo"}
xref: UMLS:C2931546 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000353", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023573"} ! syndromic disease
is_a: MONDO:0017042 {source="MESH:C537614"} ! thanatophoric dysplasia
property_value: exactMatch http://identifiers.org/mesh/C537614
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931546
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome xsd:anyURI {source="GARD:0000353"}

[Term]
id: MONDO:0023575
name: Krauss Herman Holmes syndrome
subset: gard_rare
synonym: "telecanthus, hypertelorism, strabismus, and pes cavus syndrome" RELATED [GARD:0003143, MESH:C537618]
xref: GARD:0003143 {source="MONDO:equivalentTo"}
xref: MESH:C537618 {source="MONDO:equivalentTo"}
xref: UMLS:C2931549 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003143"}
is_a: MONDO:0001008 {source="MESH:C537618"} ! blepharophimosis (disease)
is_a: MONDO:0002254 {source="MONDOLEX:0023575"} ! syndromic disease
is_a: MONDO:0007778 {source="MESH:C537618"} ! hypertelorism (disease)
property_value: exactMatch http://identifiers.org/mesh/C537618
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931549
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome xsd:anyURI {source="GARD:0003143"}

[Term]
id: MONDO:0023577
name: Krieble Bixler syndrome
subset: gard_rare
synonym: "autosomal dominant blepharophimosis with multiple congenital anomalies" RELATED [GARD:0003144, MESH:C537619]
xref: GARD:0003144 {source="MONDO:equivalentTo"}
xref: MESH:C537619 {source="MONDO:equivalentTo"}
xref: UMLS:C2931550 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003144"}
is_a: MONDO:0001008 {source="MESH:C537619"} ! blepharophimosis (disease)
is_a: MONDO:0002254 {source="MONDOLEX:0023577"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537619
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931550
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome xsd:anyURI {source="GARD:0003144"}

[Term]
id: MONDO:0023579
name: Kuster Majewski Hammerstein syndrome
comment: Editor note: consider merging with MONDO:0021849
subset: gard_rare
synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125]
synonym: "alopecia, macular degeneration, and growth retardation" RELATED [GARD:0003151, MESH:C538125]
xref: GARD:0003151 {source="MONDO:equivalentTo"}
xref: MESH:C538125 {source="MONDO:equivalentTo"}
xref: UMLS:C2931740 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003151"}
is_a: MONDO:0002254 {source="MONDOLEX:0023579"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C538125
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931740
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome xsd:anyURI {source="GARD:0003151"}

[Term]
id: MONDO:0023581
name: Kuster syndrome
subset: gard_rare
synonym: "cleft lip and palate, lower lip pits, and limb deficiency defects" RELATED [GARD:0003152]
synonym: "cleft lip palate lip pits limb deficiency" RELATED [GARD:0003152]
xref: GARD:0003152 {source="MONDO:equivalentTo"}
xref: MESH:C538126 {source="MONDO:equivalentTo"}
xref: UMLS:C2931741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003152"}
is_a: MONDO:0002254 {source="MONDOLEX:0023581"} ! syndromic disease
is_a: MONDO:0004747 {source="MESH:C538126"} ! cleft lip (disease)
is_a: MONDO:0016064 {source="MESH:C538126"} ! cleft palate
property_value: exactMatch http://identifiers.org/mesh/C538126
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931741
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome xsd:anyURI {source="GARD:0003152"}

[Term]
id: MONDO:0023595
name: congenital myotonic dystrophy
def: "Myotonic dystrophy that is present at birth." [NCIT:C123308]
subset: gard_rare
synonym: "Congenital Myotonic dystrophies" RELATED [MSH:D009223]
synonym: "Congenital Myotonic dystrophy" RELATED [MSH:D009223, NCIT:C123308]
synonym: "Congenital myotonic dystrophy" RELATED [UMLS:C0410226]
synonym: "congenital myotonic dystrophy" EXACT [NCIT:C123308]
synonym: "dystrophies, Congenital Myotonic" RELATED [MSH:D009223]
synonym: "dystrophy, Congenital Myotonic" RELATED [MSH:D009223]
synonym: "Myotonic dystrophies, Congenital" RELATED [MSH:D009223]
synonym: "MYOTONIC dystrophy CONGEN" RELATED [MSH:D009223]
synonym: "Myotonic dystrophy, Congenital" RELATED [MSH:D009223]
xref: GARD:0009134 {source="MONDO:equivalentTo"}
xref: NCIT:C123308 {source="MONDO:equivalentTo", source="UMLS:C0410226"}
xref: UMLS:C0410226 {source="MONDO:equivalentTo", source="GARD:0009134"}
is_a: MONDO:0016107 {source="NCIT:C123308", source="UMLS:C0410226"} ! myotonic dystrophy
relationship: has_modifier MONDO:0021136 {source="GARD:0009134"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410226
property_value: exactMatch NCIT:C123308

[Term]
id: MONDO:0023597
name: laryngeal papillomatosis
def: "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." [GARD:0006864]
comment: Editor note: compare with MONDO:0000935
subset: gard_rare
synonym: "juvenile laryngeal papillomatosis" RELATED [MESH:C537876]
synonym: "juvenile laryngeal papillomatosis (subtype)" RELATED [GARD:0006864]
synonym: "laryngeal papillomatosis" EXACT []
synonym: "recurrent laryngeal papillomatosis" RELATED [MESH:C537876]
synonym: "recurrent laryngeal papillomatosis (subtype)" RELATED [GARD:0006864]
synonym: "Warts in the throat" RELATED [GARD:0006864, MESH:C537876]
xref: GARD:0006864 {source="MONDO:equivalentTo"}
xref: MESH:C537876 {source="MONDO:equivalentTo"}
xref: SCTID:232457008 {source="MONDO:equivalentTo"}
xref: UMLS:C0396072 {source="GARD:0006864", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002354 {source="linkedlifedata"} ! benign laryngeal neoplasm
is_a: MONDO:0002363 {source="MESH:C537876"} ! papilloma
is_a: MONDO:0018955 {source="MONDOLEX:0023597", source="linkedlifedata"} ! recurrent respiratory papillomatosis
property_value: exactMatch http://identifiers.org/mesh/C537876
property_value: exactMatch http://identifiers.org/snomedct/232457008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0396072
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis xsd:anyURI {source="GARD:0006864"}

[Term]
id: MONDO:0023599
name: mesomelic dysplasia
def: "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." [NCIT:C121156]
synonym: "Mesomelic dwarf" RELATED [UMLS:C0410536]
synonym: "Mesomelic Dysplasia" RELATED [NCIT:C121156]
synonym: "Mesomelic dysplasia" RELATED [UMLS:C0410536]
synonym: "mesomelic dysplasia" EXACT [NCIT:C121156]
synonym: "mesomelic dysplasias" EXACT [NCIT:C121156]
xref: NCIT:C121156 {source="MONDO:equivalentTo", source="UMLS:C0410536"}
xref: SCTID:205473008 {source="MONDO:equivalentTo", source="UMLS:C0410536"}
xref: UMLS:C0410536 {source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="NCIT:C121156", source="UMLS:C0410536"} ! osteochondrodysplasia
property_value: exactMatch http://identifiers.org/snomedct/205473008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410536
property_value: exactMatch NCIT:C121156

[Term]
id: MONDO:0023601
name: non-classic congenital adrenal hyperplasia
def: "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement." [NCIT:C131442]
synonym: "attenuated congenital adrenal hyperplasia" RELATED [MESH:C537877]
synonym: "late-onset congenital adrenal hyperplasia" EXACT [NCIT:C131442]
synonym: "LOCAH" RELATED [MESH:C537877]
synonym: "NCCAH" RELATED [MESH:C537877]
synonym: "non classic congenital adrenal hyperplasia" RELATED [MESH:C537877]
synonym: "non-classic congenital adrenal hyperplasia" EXACT [NCIT:C131442]
xref: MESH:C537877 {source="MONDO:equivalentTo"}
xref: NCIT:C131442 {source="MONDO:equivalentTo"}
xref: UMLS:C0342467 {source="MONDO:equivalentTo", source="NCIT:C131442"}
is_a: MONDO:0018479 {source="MESH:C537877", source="MONDOLEX:0023601", source="NCIT:C131442"} ! congenital adrenal hyperplasia
disjoint_from: MONDO:0060783 ! classic congenital adrenal hyperplasia
property_value: exactMatch http://identifiers.org/mesh/C537877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342467
property_value: exactMatch NCIT:C131442

[Term]
id: MONDO:0023603
name: hereditary connective tissue disorder
def: "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." [NCIT:C97075]
synonym: "Connective tissue hereditary disorder" RELATED [UMLS:C0410787]
synonym: "connective tissue hereditary disorder" EXACT [NCIT:C97075]
synonym: "Hereditary Connective Tissue Disorder" RELATED [NCIT:C97075]
synonym: "hereditary connective tissue disorder" EXACT [NCIT:C97075]
synonym: "Inherited disorder of connective tissue" RELATED [UMLS:C0410787]
synonym: "inherited disorder of connective tissue" RELATED []
xref: NCIT:C97075 {source="MONDO:equivalentTo", source="UMLS:C0410787"}
xref: SCTID:363045008 {source="MONDO:equivalentTo", source="UMLS:C0410787"}
xref: UMLS:C0410787 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="linkedlife"} ! Mendelian disease
is_a: MONDO:0003900 {source="NCIT:C97075", source="UMLS:C0410787", source="linkedlife"} ! connective tissue disease
intersection_of: MONDO:0003900 ! connective tissue disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/363045008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410787
property_value: exactMatch NCIT:C97075

[Term]
id: MONDO:0023605
name: Laugier-Hunziker syndrome
subset: gard_rare
synonym: "Laugier and Hunziker pigmentation" RELATED [GARD:0009669]
synonym: "Laugier-Hunziker syndrome" EXACT []
synonym: "LHS" RELATED [GARD:0009669]
xref: GARD:0009669 {source="MONDO:equivalentTo"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:238706002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406425 {source="GARD:0009669", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023605"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/238706002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406425
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome xsd:anyURI {source="GARD:0009669"}

[Term]
id: MONDO:0023607
name: Laurence-Prosser-Rocker syndrome
subset: gard_rare
synonym: "Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly" RELATED [GARD:0003201]
synonym: "Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect" RELATED [GARD:0003201]
xref: GARD:0003201 {source="MONDO:equivalentTo"}
xref: MESH:C537882 {source="MONDO:equivalentTo"}
xref: UMLS:C2931651 {source="GARD:0003201", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023607"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931651
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome xsd:anyURI {source="GARD:0003201"}

[Term]
id: MONDO:0023609
name: le Marec-Bracq-Picaud syndrome
subset: gard_rare
synonym: "complex malformation syndrome with brachymesomelia" RELATED [GARD:0000171, MESH:C536997]
xref: GARD:0000171 {source="MONDO:equivalentTo"}
xref: MESH:C536997 {source="MONDO:equivalentTo"}
xref: UMLS:C2931385 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000171"}
is_a: MONDO:0002254 {source="MONDOLEX:0023609"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536997
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931385
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome xsd:anyURI {source="GARD:0000171"}

[Term]
id: MONDO:0023616
name: familial leiomyomatosis
def: "An instance of leiomyomatosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare
synonym: "hereditary leiomyomatosis" EXACT [MONDO:patterns/hereditary]
synonym: "leiomyomatosis familial" RELATED [GARD:0003218]
xref: GARD:0003218 {source="MONDO:equivalentTo"}
xref: UMLS:CN073087 {source="MONDO:equivalentTo"}
is_a: MONDO:0003295 {source="MONDO:Redundant", source="MONDOLEX:0023616"} ! leiomyomatosis
is_a: MONDO:0017127 ! inherited soft tissue tumor
intersection_of: MONDO:0003295 ! leiomyomatosis
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN073087
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3218/leiomyomatosis-familial xsd:anyURI {source="GARD:0003218"}

[Term]
id: MONDO:0023619
name: lentigo maligna melanoma
def: "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." [GARD:0009962]
subset: gard_rare
synonym: "Hutchison melanotic freckle" RELATED [GARD:0009962]
synonym: "lentigo maligna melanoma" EXACT [NCIT:C9151]
synonym: "LMM" RELATED [GARD:0009962]
synonym: "malignant lentigo melanoma" EXACT [NCIT:C9151]
synonym: "SKLMM" RELATED [ONCOTREE:SKLMM]
xref: GARD:0009962 {source="MONDO:equivalentTo"}
xref: ICD9:172.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICDO:8742/3 {source="NCIT:C9151"}
xref: NCIT:C9151 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SKLMM {source="MONDO:equivalentTo"}
xref: SCTID:302837001 {source="MONDO:equivalentTo"}
xref: UMLS:C2739810 {source="MONDO:equivalentTo", source="NCIT:C9151"}
is_a: MONDO:0005012 {source="NCIT:C9151"} ! cutaneous melanoma (disease)
property_value: exactMatch http://identifiers.org/snomedct/302837001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2739810
property_value: exactMatch NCIT:C9151
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma xsd:anyURI {source="GARD:0009962"}

[Term]
id: MONDO:0023628
name: levator syndrome
def: "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." [GARD:0006899]
subset: gard_rare
synonym: "anorectal spasm" RELATED []
synonym: "levator ani spasm syndrome" RELATED [GARD:0006899, MESH:C535890]
synonym: "levator ani syndrome" RELATED [GARD:0006899, MESH:C535890]
synonym: "levator syndrome" EXACT []
synonym: "painful spasm of anus" EXACT []
synonym: "paroxysmal proctalgia" RELATED []
synonym: "proctalgia fugax" RELATED []
synonym: "psychogenic anal spasm" RELATED []
xref: GARD:0006899 {source="MONDO:equivalentTo"}
xref: MESH:C535890 {source="MONDO:equivalentTo"}
xref: NCIT:C113615 {source="MONDO:equivalentTo"}
xref: SCTID:62647006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023628"} ! syndromic disease
is_a: MONDO:0002519 {source="MESH:C535890", source="NCIT:C113615/inferred", source="linkedlifedata/inferred"} ! anus disease
is_a: MONDO:0005218 ! muscular disease
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
relationship: disease_has_feature MONDO:0001274 ! anal spasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0423738
property_value: exactMatch http://identifiers.org/mesh/C535890
property_value: exactMatch http://identifiers.org/snomedct/62647006
property_value: exactMatch NCIT:C113615
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome xsd:anyURI {source="GARD:0006899"}

[Term]
id: MONDO:0023642
name: Weber syndrome
subset: gard_rare
synonym: "Midbrain stroke syndromes" RELATED [GARD:0008676]
synonym: "Weber Syndrome" RELATED [MSH:D020526]
synonym: "Weber syndrome" RELATED [UMLS:C0455717]
synonym: "Weber-Gubler syndrome" EXACT []
synonym: "Weber-Gubler syndrome" RELATED [UMLS:C0455717]
xref: GARD:0008676 {source="MONDO:equivalentTo"}
xref: ICD9:344.89 {source="linkedlife"}
xref: SCTID:24654003 {source="UMLS:C0455717", source="MONDO:equivalentTo"}
xref: UMLS:C0455717 {source="MONDO:equivalentTo"}
is_a: MONDO:0001584 ! ocular motility disease
relationship: has_modifier MONDO:0021136 {source="GARD:0008676"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/24654003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0455717

[Term]
id: MONDO:0023644
name: lip and oral cavity carcinoma
def: "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." [NCIT:C9315]
subset: gard_rare
synonym: "lip and oral cavity cancer" EXACT [NCIT:C9315]
synonym: "lip and oral cavity carcinoma" EXACT [NCIT:C9315]
synonym: "oral cancer" EXACT [NCIT:C9315]
synonym: "oral carcinoma" EXACT [NCIT:C9315]
xref: GARD:0009342 {source="MONDO:equivalentTo"}
xref: GARD:0009360 {source="MONDO:equivalentTo"}
xref: NCIT:C9315 {source="MONDO:equivalentTo"}
xref: UMLS:C0220641 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9315", source="GARD:0009342"}
is_a: MONDO:0002038 {source="NCIT:C9315"} ! head and neck carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0220641
property_value: exactMatch NCIT:C9315
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer xsd:anyURI {source="GARD:0009342"}

[Term]
id: MONDO:0023646
name: lipodermatosclerosis
def: "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy ." [GARD:0009671]
subset: gard_rare
synonym: "acute lipodermatosclerosis" RELATED [GARD:0009671, MESH:C537026]
synonym: "hypodermitis sclerodermaformis" RELATED [GARD:0009671]
synonym: "sclerosing panniculitis" RELATED [GARD:0009671]
xref: GARD:0009671 {source="MONDO:equivalentTo"}
xref: MESH:C537026 {source="MONDO:equivalentTo"}
xref: SCTID:410016009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406500 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009671"}
is_a: MONDO:0002406 {source="MESH:C537026", source="MONDO:Redundant"} ! dermatitis
is_a: MONDO:0006591 {source="GARD:text", source="linkedlifedata"} ! panniculitis
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
is_a: MONDO:0019562 {source="MESH:C537026"} ! localized scleroderma
property_value: exactMatch http://identifiers.org/mesh/C537026
property_value: exactMatch http://identifiers.org/snomedct/410016009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406500
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis xsd:anyURI {source="GARD:0009671"}

[Term]
id: MONDO:0023650
name: littoral cell angioma of the spleen
def: "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766879/]
subset: gard_rare
synonym: "littoral cell angioma" RELATED [GARD:0009714, MESH:C537031]
xref: GARD:0009714 {source="MONDO:equivalentTo"}
xref: MESH:C537031 {source="MONDO:equivalentTo"}
xref: SCTID:418040002 {source="MONDO:equivalentTo"}
xref: UMLS:C1627365 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009714", source="MONDO:equivalentTo"}
is_a: MONDO:0002343 ! splenic hemangioma
property_value: exactMatch http://identifiers.org/mesh/C537031
property_value: exactMatch http://identifiers.org/snomedct/418040002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1627365
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen xsd:anyURI {source="GARD:0009714"}

[Term]
id: MONDO:0023663
name: obsolete macrocephaly mesodermal hamartoma spectrum
comment: Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920
subset: gard_rare
synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716]
synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716]
synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716]
xref: GARD:0000170 {source="MONDO:equivalentTo"}
xref: MESH:C537716 {source="MONDO:equivalentTo"}
xref: UMLS:C1867610 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000170"}
property_value: exactMatch http://identifiers.org/mesh/C537716
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1867610
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum xsd:anyURI {source="GARD:0000170"}
is_obsolete: true
replaced_by: MONDO:0008318

[Term]
id: MONDO:0023679
name: hematohidrosis
def: "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." [GARD:0013131]
subset: gard_rare
synonym: "Hematidrosis" RELATED [GARD:0013131]
synonym: "Hematohidrosis" RELATED [UMLS:C0473554]
xref: GARD:0013131 {source="MONDO:equivalentTo"}
xref: ICD10:L74.8 {source="GARD:0013131"}
xref: ICD9:705.89 {source="GARD:0013131"}
xref: SCTID:238757003 {source="MONDO:equivalentTo", source="UMLS:C0473554"}
xref: UMLS:C0473554 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
relationship: has_modifier MONDO:0021136 {source="GARD:0013131"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/238757003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473554

[Term]
id: MONDO:0023682
name: tympanic paraganglioma
def: "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss." [NCIT:C8428]
synonym: "Glomus tympanicum paraganglioma" RELATED [GTR:AN0102048]
synonym: "Glomus Tympanicum Tumor" RELATED [MSH:D043604]
synonym: "Glomus tympanicum tumor" RELATED [GTR:AN0102047, SNOMEDCT_US:253031000]
synonym: "Glomus Tympanicum Tumors" RELATED [MESH:D043604, MSH:D043604]
synonym: "Tumor, Glomus Tympanicum" RELATED [MESH:D043604, MSH:D043604]
synonym: "Tumors, Glomus Tympanicum" RELATED [MESH:D043604, MSH:D043604]
synonym: "Tympanic Paraganglioma" RELATED [NCIT:C8428]
synonym: "Tympanic paraganglioma" RELATED [UMLS:C0474820]
synonym: "tympanic paraganglioma" EXACT [NCIT:C8428]
xref: GTR:AN0102047 {source="UMLS:C0474820"}
xref: GTR:AN0102048 {source="UMLS:C0474820"}
xref: MESH:D043604 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: NCIT:C8428 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: SCTID:253031000 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: UMLS:C0474820 {source="MONDO:equivalentTo"}
is_a: MONDO:0006239 ! head and neck paraganglioma
is_a: MONDO:0015071 ! middle ear neuroendocrine tumor
property_value: exactMatch http://identifiers.org/mesh/D043604
property_value: exactMatch http://identifiers.org/snomedct/253031000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0474820
property_value: exactMatch NCIT:C8428

[Term]
id: MONDO:0023691
name: maple syrup urine disease type 1A
def: "maple syrup urine disease caused by mutations in BCKDHA." [MONDO:cjm]
subset: gard_rare
synonym: "MSUD type 1A" RELATED [GARD:0008594]
xref: GARD:0008594 {source="MONDO:equivalentTo"}
is_a: MONDO:0009563 ! maple syrup urine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930989
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a xsd:anyURI {source="GARD:0008594"}

[Term]
id: MONDO:0023692
name: maple syrup urine disease type 1B
def: "maple syrup urine disease caused by mutations in BCKDHB." [MONDO:cjm]
subset: gard_rare
synonym: "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex" RELATED [GARD:0008597]
synonym: "MSUD type 3 (formerly)" RELATED [GARD:0008597]
synonym: "MSUD type IB" RELATED [GARD:0008597]
xref: GARD:0008597 {source="MONDO:equivalentTo"}
is_a: MONDO:0009563 ! maple syrup urine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930990
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b xsd:anyURI {source="GARD:0008597"}

[Term]
id: MONDO:0023693
name: maple syrup urine disease type 2
def: "maple syrup urine disease caused by mutations in DBT." [MONDO:cjm]
subset: gard_rare
synonym: "MSUD type 2" RELATED [GARD:0008596]
synonym: "MSUD2" RELATED [GARD:0008596]
xref: GARD:0008596 {source="MONDO:equivalentTo"}
xref: HGNC:2698 {source="GARD:0008596"}
is_a: MONDO:0009563 ! maple syrup urine disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 xsd:anyURI {source="GARD:0008596"}

[Term]
id: MONDO:0023696
name: Marinesco-Sjogren-like syndrome
def: "A disease with similar features to Marinesco-Sjogren syndrome." [https://doi.org/10.1371/journal.pone.0169309]
subset: gard_rare
synonym: "juvenile cataract, cerebellar atrophy, mental retardation, and myopathy" RELATED [GARD:0008745]
synonym: "Marinesco-Sjogren-like syndrome (MSLS)" RELATED [GARD:0008745]
xref: GARD:0008745 {source="MONDO:equivalentTo"}
xref: MESH:C535913 {source="MONDO:equivalentTo"}
xref: UMLS:C0796036 {source="GARD:0008745", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0023696"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0009567 ! Marinesco-Sjogren syndrome
property_value: closeMatch http://identifiers.org/omim/248810
property_value: exactMatch http://identifiers.org/mesh/C535913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796036
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls xsd:anyURI {source="GARD:0008745"}

[Term]
id: MONDO:0023699
name: Maroteaux Fonfria syndrome
subset: gard_rare
synonym: "apert syndrome with polydactyly of hands and feet" RELATED [GARD:0003397, MESH:C536023]
synonym: "apparent apert syndrome with polydactyly" RELATED [GARD:0003397, MESH:C536023]
xref: GARD:0003397 {source="MONDO:equivalentTo"}
xref: MESH:C536023 {source="MONDO:equivalentTo"}
xref: UMLS:C2931088 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003397"}
is_a: MONDO:0007041 {source="MESH:C536023", source="MONDOLEX:0023699"} ! apert syndrome
property_value: exactMatch http://identifiers.org/mesh/C536023
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931088
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome xsd:anyURI {source="GARD:0003397"}

[Term]
id: MONDO:0023704
name: Martinez Monasterio Pinheiro syndrome
def: "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings." [PMID:3037904]
subset: gard_rare
subset: n_of_one
synonym: "cleft lip-palate-oligodontia-syndactyly-hair alterations" RELATED [MESH:C536027]
synonym: "cleft lip/palate oligodontia syndactyly hair alterations" RELATED [GARD:0003404]
xref: GARD:0003404 {source="MONDO:equivalentTo"}
xref: MESH:C536027 {source="MONDO:equivalentTo"}
xref: UMLS:C2931089 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003404"}
is_a: MONDO:0007339 ! blepharo-cheilo-odontic syndrome
property_value: closeMatch DOID:9003731
property_value: exactMatch http://identifiers.org/mesh/C536027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931089
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome xsd:anyURI {source="GARD:0003404"}

[Term]
id: MONDO:0023726
name: mediastinal yolk sac tumor
def: "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." [NCIT:C6443]
synonym: "endodermal sinus neoplasm of mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus neoplasm of the mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus tumor of mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus tumor of the mediastinum" EXACT [NCIT:C6443]
synonym: "EST" RELATED [GARD:0008258]
synonym: "mediastinal endodermal sinus neoplasm" EXACT [NCIT:C6443]
synonym: "mediastinal endodermal sinus tumor" EXACT [NCIT:C6443]
synonym: "mediastinal endodermal sinus tumors" RELATED [GARD:0008258]
synonym: "mediastinal yolk Sac neoplasm" EXACT [NCIT:C6443]
synonym: "mediastinal yolk Sac tumor" EXACT [NCIT:C6443]
synonym: "mediastinum yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "yolk Sac neoplasm of mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac neoplasm of the mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac tumor of mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac tumor of the mediastinum" EXACT [NCIT:C6443]
xref: GARD:0008258 {source="shared-umls-xref", source="MONDO:equivalentTo"}
xref: NCIT:C6443 {source="MONDO:equivalentTo"}
xref: UMLS:C1334683 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6443", source="MONDO:equivalentTo"}
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6443"} ! yolk sac tumor
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C6443/inferred"} ! mediastinal malignant germ cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334683
property_value: exactMatch NCIT:C6443

[Term]
id: MONDO:0023757
name: meralgia paresthetica
def: "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." [GARD:0009417]
subset: gard_rare
synonym: "bernhardt's paresthesia" RELATED []
synonym: "bernhardt-rot syndrome" RELATED []
synonym: "Bernhardt-Roth syndrome" RELATED [GARD:0009417, MESH:C537458]
synonym: "compression of lateral cutaneous femoral nerve of thigh" RELATED []
synonym: "entrapment of lateral cutaneous nerve of thigh" RELATED []
synonym: "lateral cutaneous femoral nerve of thigh syndrome" RELATED []
synonym: "lateral femoral cutaneous nerve entrapment" RELATED [GARD:0009417, MESH:C537458]
synonym: "meralgia paraesthetica familial (type)" RELATED [GARD:0009417]
xref: GARD:0009417 {source="MONDO:equivalentTo"}
xref: ICD9:355.1 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:C537458 {source="MONDO:equivalentTo"}
xref: SCTID:85007004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152110 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009417", source="MONDO:equivalentTo"}
is_a: MONDO:0003615 {source="MESH:C537458"} ! nerve compression syndrome
property_value: exactMatch http://identifiers.org/mesh/C537458
property_value: exactMatch http://identifiers.org/snomedct/85007004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152110
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica xsd:anyURI {source="GARD:0009417"}

[Term]
id: MONDO:0023807
name: obsolete midphalangeal hair
subset: gard_rare
subset: not_a_disease
synonym: "Middigital hair" RELATED [GARD:0009992, OMIM:157200]
synonym: "midphalangeal hair" RELATED [OMIM:157200]
xref: GARD:0009992 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C537471 {source="MONDO:equivalentTo"}
xref: OMIM:157200 {source="MONDO:equivalentTo", source="GARD:0009992"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834876
property_value: exactMatch http://identifiers.org/mesh/C537471
property_value: exactMatch http://identifiers.org/omim/157200
is_obsolete: true

[Term]
id: MONDO:0023809
name: Milner-Khallouf-Gibson syndrome
subset: gard_rare
synonym: "microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia" RELATED [GARD:0003670]
synonym: "Milner Khallouf Gibson syndrome" RELATED [GARD:0003670]
xref: GARD:0003670 {source="MONDO:equivalentTo"}
xref: MESH:C537473 {source="MONDO:equivalentTo"}
xref: UMLS:C2931503 {source="MONDO:equivalentTo", source="GARD:0003670"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023809"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0019391 {source="MESH:C537473"} ! Fanconi anemia
property_value: exactMatch http://identifiers.org/mesh/C537473
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931503
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome xsd:anyURI {source="GARD:0003670"}

[Term]
id: MONDO:0023820
name: Moebius axonal neuropathy hypogonadism
subset: gard_rare
synonym: "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" RELATED [GARD:0003698]
xref: GARD:0003698 {source="MONDO:equivalentTo"}
xref: MESH:C535806 {source="MONDO:equivalentTo"}
is_a: MONDO:0002146 {source="MESH:C535806"} ! hypogonadism
is_a: MONDO:0008006 {source="MESH:C535806"} ! Mobius syndrome
property_value: exactMatch http://identifiers.org/mesh/C535806
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism xsd:anyURI {source="GARD:0003698"}

[Term]
id: MONDO:0023833
name: multifocal choroiditis
def: "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis ) and multiple lesions in the choroid , a layer of blood vessels between the white of the eye and the retina . Symptoms include blurry vision, floaters , sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." [GARD:0009824]
subset: gard_rare
xref: GARD:0009824 {source="MONDO:equivalentTo"}
xref: MESH:C537374 {source="MONDO:equivalentTo"}
xref: SCTID:414783007 {source="MONDO:equivalentTo"}
xref: UMLS:C1533060 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009824", source="MONDO:equivalentTo"}
is_a: MONDO:0001280 {source="MESH:C537374", source="MONDOLEX:0023833", source="linkedlifedata", source="linkedlifedata/inferred"} ! choroiditis
property_value: exactMatch http://identifiers.org/mesh/C537374
property_value: exactMatch http://identifiers.org/snomedct/414783007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1533060
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis xsd:anyURI {source="GARD:0009824"}

[Term]
id: MONDO:0023865
name: corneal infection
def: "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." [NCIT:C83813]
subset: ordo_group_of_disorders
synonym: "corneal infection" EXACT [NCIT:C83813, UMLS:C0729777]
synonym: "infection of cornea" EXACT [UMLS:C0729777]
synonym: "infective keratitis" EXACT [MONDO:cjm]
synonym: "keratitis caused by infection" EXACT [MONDO:cjm]
xref: NCIT:C83813 {source="UMLS:C0729777", source="MONDO:equivalentTo"}
xref: SCTID:312428002 {source="UMLS:C0729777", source="MONDO:equivalentTo"}
xref: UMLS:C0729777 {source="MONDO:equivalentTo"}
is_a: MONDO:0003085 {source="NCIT:C83813"} ! keratitis
is_a: MONDO:0016047 ! endophthalmitis
property_value: exactMatch http://identifiers.org/snomedct/312428002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729777
property_value: exactMatch NCIT:C83813

[Term]
id: MONDO:0023868
name: melanoma associated retinopathy
def: "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." [GARD:0012041]
subset: gard_rare
synonym: "Melanoma Associated Retinopathy" RELATED [MSH:D059545]
synonym: "Melanoma associated retinopathy" RELATED [UMLS:C0730308]
synonym: "Melanoma-Associated Retinopathies" RELATED [MSH:D059545]
synonym: "Melanoma-Associated Retinopathy" RELATED [MSH:D059545]
synonym: "Melanoma-associated retinopathy" RELATED [UMLS:C0730308]
synonym: "Retinopathies, Melanoma-Associated" RELATED [MSH:D059545]
synonym: "Retinopathy, Melanoma-Associated" RELATED [MSH:D059545]
xref: GARD:0012041 {source="MONDO:equivalentTo"}
xref: SCTID:312941005 {source="MONDO:equivalentTo", source="UMLS:C0730308"}
xref: UMLS:C0730308 {source="MONDO:equivalentTo"}
is_a: MONDO:0005283 ! retinal disease
intersection_of: MONDO:0005283 ! retinal disease
intersection_of: disease_arises_from_feature MONDO:0005105 ! melanoma (disease)
relationship: disease_arises_from_feature MONDO:0005105 ! melanoma (disease)
relationship: has_modifier MONDO:0021136 {source="GARD:0012041"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/312941005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730308

[Term]
id: MONDO:0023873
name: obsolete Noonan-like/multiple giant cell lesion syndrome
def: "Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism . Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." [GARD:0004006]
subset: gard_rare
synonym: "NL/MGCLS" RELATED [GARD:0004006]
xref: GARD:0004006 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:163955 {source="GARD:0004006", source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834120
property_value: exactMatch http://identifiers.org/omim/163955
is_obsolete: true
consider: MONDO:0008104
consider: MONDO:0012547

[Term]
id: MONDO:0024171
name: radio-digito-facial dysplasia
subset: gard_rare
synonym: "Van Goethem syndrome" RELATED [GARD:0004629]
xref: GARD:0004629 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: closeMatch Orphanet:3014

[Term]
id: MONDO:0024182
name: dry beriberi
synonym: "endemic neuritis" RELATED [https://en.wikipedia.org/wiki/Thiamine_deficiency]
xref: DOID:0070318 {source="MONDO:equivalentTo"}
xref: ICD10CM:E51.11 {source="DOID:0070318"}
is_a: MONDO:0006676 {source="DOID:0070318"} ! beriberi
property_value: closeMatch http://identifiers.org/snomedct/71021002
property_value: exactMatch DOID:0070318

[Term]
id: MONDO:0024183
name: wet beriberi
xref: DOID:0070317 {source="MONDO:equivalentTo"}
xref: ICD10CM:E51.12 {source="DOID:0070317"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0006676 {source="DOID:0070317"} ! beriberi
property_value: closeMatch http://identifiers.org/snomedct/67360000
property_value: exactMatch DOID:0070317

[Term]
id: MONDO:0024234
name: Seckel like syndrome majoor-krakauer type
subset: gard_rare
synonym: "Bird-headed dwarfism microcephaly micrognathia" RELATED [GARD:0004781]
xref: GARD:0004781 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0024234"} ! syndromic disease
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type xsd:anyURI {source="GARD:0004781"}

[Term]
id: MONDO:0024235
name: Brenner tumor
def: "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature." [NCIT:C39954]
synonym: "Brenner tumor" EXACT [NCIT:C39954]
xref: ICDO:9000/0 {source="NCIT:C39954"}
xref: NCIT:C39954 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BTOV {source="MONDO:equivalentTo"}
is_a: MONDO:0006054 ! reproductive system neoplasm
is_a: MONDO:0037254 {source="NCIT:C39954"} ! transitional cell neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/CL323981
property_value: exactMatch NCIT:C39954

[Term]
id: MONDO:0024236
name: degenerative disorder
def: "A disorder characterized by the progressive loss of function and/or structure of the affected tissues." [NCIT:C27090]
synonym: "degenerative disease" EXACT [NCIT:C27090]
synonym: "degenerative disorder" EXACT [NCIT:C27090]
xref: ICD9:796.4 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27090 {source="MONDO:equivalentTo"}
xref: SCTID:362975008 {source="MONDO:equivalentTo"}
xref: UMLS:C1285162 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27090"}
is_a: MONDO:0000001 {source="NCIT:C27090/inferred", source="linkedlifedata"} ! disease or disorder
property_value: exactMatch http://identifiers.org/snomedct/362975008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285162
property_value: exactMatch NCIT:C27090

[Term]
id: MONDO:0024237
name: inherited neurodegenerative disorder
def: "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." [NCIT:C97073]
subset: ordo_group_of_disorders {source="Orphanet:183500"}
synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic]
synonym: "hereditary neurodegenerative disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073]
xref: MESH:D020271 {source="MONDO:equivalentTo"}
xref: NCIT:C97073 {source="MONDO:equivalentTo"}
xref: Orphanet:183500 {source="MONDO:equivalentTo"}
xref: UMLS:C3273225 {source="NCIT:C97073", source="MONDO:equivalentTo"}
xref: UMLS:CN200549 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="MESH:D020271", source="MONDO:Redundant", source="NCIT:C97073", source="indirect"} ! neurodegenerative disease
is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:183500"} ! genetic nervous system disorder
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0002320 {source="NCIT:C97073"} ! congenital nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/D020271
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273225
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200549
property_value: exactMatch NCIT:C97073
property_value: exactMatch Orphanet:183500

[Term]
id: MONDO:0024238
name: cerebral degeneration
def: "A neurodegenerative disease that involves the telencephalon." [MONDO:patterns/location]
synonym: "cerebral degeneration" EXACT []
synonym: "neurodegenerative disease of telencephalon" EXACT [MONDO:design_pattern]
synonym: "telencephalon neurodegenerative disease" EXACT [MONDO:patterns/location]
xref: ICD9:331.9 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:418143002 {source="MONDO:equivalentTo"}
xref: UMLS:C0154671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005559 ! neurodegenerative disease
is_a: MONDO:0005560 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
property_value: exactMatch http://identifiers.org/snomedct/418143002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154671

[Term]
id: MONDO:0024239
name: congenital anomaly of cardiovascular system
def: "A disease that has its basis in the disruption of cardiovascular system development." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "cardiovascular system development disease" EXACT [MONDO:design_pattern]
synonym: "congenital Abnormality of the circulatory system" EXACT [NCIT:C35729]
synonym: "congenital anomaly of cardiovascular system" EXACT []
synonym: "congenital cardiovascular Abnormality" EXACT [NCIT:C35729]
synonym: "congenital cardiovascular anomaly" EXACT [NCIT:C35729]
synonym: "congenital cardiovascular disorder" RELATED []
synonym: "disorder of cardiovascular system development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cardiovascular system development" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: ICD9:747.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:747.9 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35729 {source="MONDO:equivalentTo"}
xref: SCTID:9904008 {source="MONDO:equivalentTo"}
is_a: MONDO:0004995 {source="NCIT:C35729/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiovascular disease
property_value: exactMatch http://identifiers.org/snomedct/9904008
property_value: exactMatch NCIT:C35729

[Term]
id: MONDO:0024240
name: eccrine carcinoma
def: "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." [NCIT:C27255]
synonym: "carcinoma of eccrine sweat gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, eccrine gland, malignant" EXACT [NCIT:C27255]
synonym: "eccrine adenocarcinoma" EXACT [DOID:4920, NCIT:C27255]
synonym: "eccrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4920]
synonym: "eccrine carcinoma" EXACT [NCIT:C27255]
synonym: "eccrine carcinoma of skin" EXACT []
synonym: "eccrine sweat gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "eccrine sweat gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4920 {source="MONDO:equivalentTo"}
xref: ICDO:8413/3 {source="NCIT:C27255"}
xref: NCIT:C27255 {source="MONDO:equivalentTo"}
xref: SCTID:400173004 {source="MONDO:equivalentTo"}
xref: UMLS:C1266066 {source="MONDO:equivalentTo", source="DOID:4920"}
xref: UMLS:C1302864 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27255", source="MONDO:equivalentTo"}
xref: UMLS:C1707878 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005506 {source="DOID:4920", source="MONDO:Redundant", source="NCIT:C27255"} ! eccrine sweat gland cancer
is_a: MONDO:0005524 {source="MONDO:Redundant", source="NCIT:C27255"} ! sweat gland carcinoma
property_value: closeMatch http://identifiers.org/snomedct/128686000
property_value: exactMatch DOID:4920
property_value: exactMatch http://identifiers.org/snomedct/400173004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266066
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707878
property_value: exactMatch NCIT:C27255

[Term]
id: MONDO:0024245
name: ductal eccrine adenocarcinoma
synonym: "anaplastic syringoma" EXACT [DOID:5570]
synonym: "ductal eccrine adenocarcinoma" EXACT [NCIT:C43345]
synonym: "ductal eccrine carcinoma" EXACT [NCIT:C43345]
synonym: "eccrine ductal carcinoma" EXACT [DOID:5570]
synonym: "eccrine ductal carcinoma (morphologic abnormality)" RELATED [DOID:5570]
synonym: "eccrine ductal carcinoma of skin" RELATED [DOID:5570]
synonym: "hidradenocarcinoma" RELATED [https://en.wikipedia.org/wiki/Hidradenocarcinoma]
synonym: "malignant acrospiroma" EXACT [DOID:5570, MONDO:0003520]
synonym: "malignant hidradenoma" RELATED [https://en.wikipedia.org/wiki/Hidradenocarcinoma]
synonym: "primary mucoepidermoid cutaneous carcinoma" RELATED [https://en.wikipedia.org/wiki/Hidradenocarcinoma]
synonym: "sweat gland carcinoma of the hand" NARROW [PMID:2544641]
xref: DOID:5570 {source="MONDO:equivalentTo"}
xref: NCIT:C43345 {source="MONDO:equivalentTo", source="DOID:5570"}
xref: SCTID:403939009 {source="MONDO:equivalentTo", source="DOID:5570"}
is_a: MONDO:0024240 {source="MONDOLEX:0024245", source="NCIT:C43345"} ! eccrine carcinoma
property_value: closeMatch http://identifiers.org/snomedct/400208002
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1260964
property_value: exactMatch DOID:5570
property_value: exactMatch http://identifiers.org/snomedct/403939009
property_value: exactMatch NCIT:C43345

[Term]
id: MONDO:0024246
name: syringofibroadenoma
def: "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." [NCIT:C43356]
synonym: "acrosyringeal adenomatosis" EXACT [HP:0031018, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "acrosyringeal nevus" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "eccrine syringofibroadenoma" EXACT [NCIT:C43356]
synonym: "eccrine syringofibroadenoma of skin" RELATED []
synonym: "eccrine syringofibroadenomatous hyperplasia" EXACT [HP:0031018]
synonym: "syringofibroadenoma" EXACT [HP:0031018, NCIT:C43356]
xref: HP:0031018 {source="MONDO:otherHierarchy"}
xref: ICDO:8392/0 {source="NCIT:C43356"}
xref: NCIT:C43356 {source="MONDO:equivalentTo"}
xref: SCTID:403936002 {source="MONDO:equivalentTo"}
xref: UMLS:C0473578 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
xref: UMLS:C1266060 {source="MONDO:equivalentTo", source="NCIT:C43356"}
is_a: MONDO:0021110 {source="NCIT:C43356"} ! sweat gland adenoma
is_a: MONDO:0024247 {source="NCIT:C43356", source="linkedlifedata"} ! benign eccrine neoplasm
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: exactMatch http://identifiers.org/snomedct/403936002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473578
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266060
property_value: exactMatch NCIT:C43356

[Term]
id: MONDO:0024247
name: benign eccrine neoplasm
def: "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." [NCIT:C6797]
synonym: "benign eccrine neoplasm" EXACT [NCIT:C6797]
synonym: "benign eccrine neoplasm of skin" EXACT [NCIT:C6797]
synonym: "benign eccrine neoplasm of the skin" EXACT [NCIT:C6797]
synonym: "benign eccrine skin neoplasm" EXACT [NCIT:C6797]
synonym: "benign eccrine skin tumor" EXACT [NCIT:C6797]
synonym: "benign eccrine sweat gland neoplasm" EXACT []
synonym: "benign eccrine tumor" EXACT [NCIT:C6797]
synonym: "benign eccrine tumor of skin" EXACT [NCIT:C6797]
synonym: "benign eccrine tumor of the skin" EXACT [NCIT:C6797]
synonym: "benign skin tumor with eccrine differentiation" EXACT []
synonym: "eccrine sweat gland neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: NCIT:C6797 {source="MONDO:equivalentTo"}
xref: SCTID:254715009 {source="MONDO:equivalentTo"}
xref: UMLS:C1332493 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002090 {source="MONDO:Redundant", source="MONDOLEX:0024247", source="NCIT:C6797"} ! eccrine sweat gland neoplasm
is_a: MONDO:0021489 {source="MONDO:Redundant", source="MONDOLEX:0024247", source="NCIT:C6797"} ! benign neoplasm of sweat gland
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346021
property_value: exactMatch http://identifiers.org/snomedct/254715009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332493
property_value: exactMatch NCIT:C6797

[Term]
id: MONDO:0024248
name: obsolete pityriasis
def: "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" [MESH:D010915]
synonym: "Pityriases" RELATED [MESH:D010915]
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010915 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:34630004 {source="MONDO:equivalentTo"}
property_value: exactMatch http://identifiers.org/mesh/D010915
property_value: exactMatch http://identifiers.org/snomedct/34630004
is_obsolete: true

[Term]
id: MONDO:0024249
name: pityriasis lichenoides
def: "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." [NCIT:C85013]
subset: gard_rare
synonym: "acute Pityriasis Lichenoides" NARROW [MESH:D017514]
synonym: "chronic Pityriasis Lichenoides" NARROW [MESH:D017514]
synonym: "parapsoriasis en gouttes" RELATED []
synonym: "parapsoriasis guttata" RELATED []
synonym: "Pityriasis Lichenoides" EXACT [NCIT:C85013]
synonym: "pityriasis lichenoides" EXACT []
synonym: "Pityriasis Lichenoides chronica" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides et Varioliformis Acuta" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides, acute" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides, chronic" RELATED [MESH:D017514]
xref: GARD:0010265 {source="MONDO:equivalentTo"}
xref: MESH:D017514 {source="MONDO:equivalentTo"}
xref: NCIT:C85013 {source="MONDO:equivalentTo"}
xref: SCTID:200983001 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 ! exanthem (disease)
is_a: MONDO:0006592 {source="MESH:D017514", source="MONDOLEX:0024249"} ! parapsoriasis
is_a: MONDO:0019293 {source="linkedlifedata"} ! skin vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162853
property_value: exactMatch http://identifiers.org/mesh/D017514
property_value: exactMatch http://identifiers.org/snomedct/200983001
property_value: exactMatch NCIT:C85013

[Term]
id: MONDO:0024250
name: acute lichenoid pityriasis
synonym: "disease, Habermann" RELATED [MESH:D017514]
synonym: "disease, Habermann's" RELATED [MESH:D017514]
synonym: "disease, Mucha-Habermann" RELATED [MESH:D017514]
synonym: "Habermann disease" RELATED [MESH:D017514]
synonym: "Habermann's disease" RELATED [MESH:D017514]
synonym: "Habermanns disease" RELATED [MESH:D017514]
synonym: "Mucha Habermann disease" RELATED [MESH:D017514]
synonym: "mucha habermann disease" RELATED []
synonym: "Mucha-Habermann disease" RELATED [MESH:D017514]
synonym: "mucha-habermann disease" RELATED []
synonym: "mucha-habermann syndrome" RELATED []
synonym: "parapsoriasis lichenoides et varioliformis acuta" RELATED []
synonym: "parapsoriasis varioliformis acuta" RELATED []
synonym: "PLEVA" RELATED []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:86487001 {source="MONDO:equivalentTo"}
is_a: MONDO:0024249 ! pityriasis lichenoides
property_value: exactMatch http://identifiers.org/snomedct/86487001

[Term]
id: MONDO:0024251
name: Minamata disease
def: "a neurological syndrome caused by severe mercury poisoning." [https://en.wikipedia.org/wiki/Minamata_disease]
synonym: "Chisso-Minamata disease" EXACT [https://en.wikipedia.org/wiki/Minamata_disease]
xref: SCTID:39640004 {source="MONDO:equivalentTo"}
xref: UMLS:CN200665 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018020 {source="https://en.wikipedia.org/wiki/Minamata_disease", source="linkedlifedata"} ! mercury poisoning
property_value: exactMatch http://identifiers.org/snomedct/39640004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN200665

[Term]
id: MONDO:0024252
name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
subset: ordo_malformation_syndrome
xref: Orphanet:488613 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488613", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015368 {source="Orphanet:488613"} ! neuro-ophthalmological disease
is_a: MONDO:0015653 {source="Orphanet:488613"} ! monogenic epilepsy
property_value: exactMatch Orphanet:488613

[Term]
id: MONDO:0024254
name: obsolete vibratory angioedema
is_obsolete: true
replaced_by: MONDO:0008657

[Term]
id: MONDO:0024255
name: genetic skin disease
def: "An instance of skin disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
synonym: "disease, genetic skin" RELATED [MESH:D012873]
synonym: "diseases, genetic skin" RELATED [MESH:D012873]
synonym: "genetic skin disease" EXACT [MESH:D012873, MONDO:patterns/genetic]
synonym: "genetic skin diseases" RELATED [MESH:D012873]
synonym: "genodermatosis" EXACT []
synonym: "skin disease, genetic" RELATED [MESH:D012873]
xref: MESH:D012873 {source="MONDO:equivalentTo"}
xref: SCTID:239001006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:D012873", source="linkedlife/inferred"} ! Mendelian disease
is_a: MONDO:0005093 {source="MESH:D012873", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! skin disease
intersection_of: MONDO:0005093 ! skin disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D012873
property_value: exactMatch http://identifiers.org/snomedct/239001006

[Term]
id: MONDO:0024257
name: hereditary motor neuron disease
def: "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "genetic anterior horn cell disease" EXACT [Orphanet:98505]
synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary motor neuron disease" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:98505 {source="MONDO:equivalentTo"}
xref: SCTID:49793008 {source="MONDO:equivalentTo"}
xref: UMLS:CN207018 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020128 {source="MONDO:Redundant", source="Orphanet:98505"} ! motor neuron disease
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
intersection_of: MONDO:0020128 ! motor neuron disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/49793008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN207018
property_value: exactMatch Orphanet:98505

[Term]
id: MONDO:0024262
name: massive neonatal aspiration syndrome
xref: SCTID:10269001 {source="MONDO:equivalentTo"}
is_a: MONDO:0024263 {source="MONDOLEX:0024262"} ! neonatal aspiration syndrome
property_value: exactMatch http://identifiers.org/snomedct/10269001

[Term]
id: MONDO:0024263
name: neonatal aspiration syndrome
def: "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." [NCIT:C118312]
comment: Editor note: TODO axiomatize using ECTO
xref: NCIT:C118312 {source="MONDO:equivalentTo"}
xref: SCTID:276533002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349468 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0024263"} ! syndromic disease
is_a: MONDO:0005275 {source="MONDO:cjm"} ! lung disease
property_value: exactMatch http://identifiers.org/snomedct/276533002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349468
property_value: exactMatch NCIT:C118312

[Term]
id: MONDO:0024264
name: hypothyroidism, congenital, nongoitrous, 2
def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13." [DOID:0070124]
synonym: "athyreotic hypothyroidism" RELATED [OMIM:218700]
synonym: "CHNG2" EXACT [DOID:0070124, OMIM:218700]
synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [DOID:0070124]
synonym: "congenital nongoitrous hypothryoidism 2" RELATED [DOID:0070124]
synonym: "congenital nongoitrous hypothyroidism 2" RELATED [DOID:0070124]
synonym: "hypothyroidism, athyreotic" RELATED [OMIM:218700]
synonym: "hypothyroidism, congenital, due to thyroid dysgenesis" RELATED [OMIM:218700]
synonym: "hypothyroidism, congenital, nongoitrous, 2; CHNG2" EXACT [OMIM:218700]
synonym: "resistance to thyrotropin" RELATED [OMIM:218700]
synonym: "thyroid agenesis" RELATED [OMIM:218700]
synonym: "thyroid dysgenesis" RELATED [OMIM:218700]
synonym: "thyroid hypoplasia" RELATED [OMIM:218700]
synonym: "thyroid, ectopic" RELATED [OMIM:218700]
synonym: "thyrotropin resistance" RELATED [OMIM:218700]
xref: DOID:0070124 {source="MONDO:equivalentTo"}
xref: ICD10:E03.1 {source="DOID:0070124"}
xref: OMIM:218700 {source="DOID:0070124", source="MONDO:equivalentTo"}
is_a: MONDO:0000045 {source="OMIM:218700"} ! hypothyroidism, congenital, nongoitrous
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1563716
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1869118
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2940786
property_value: exactMatch DOID:0070124
property_value: exactMatch http://identifiers.org/omim/218700

[Term]
id: MONDO:0024265
name: Duane syndrome type 1
def: "Duane syndrome type 1 is the most common type of Duane syndrome , an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." [GARD:0010763]
subset: gard_rare
synonym: "Drs" RELATED [OMIM:126800]
synonym: "Duane anomaly" RELATED [OMIM:126800]
synonym: "Duane retraction syndrome 1" RELATED [GARD:0010763, MONDO:Lexical, OMIM:126800]
synonym: "Duane retraction syndrome 1; DURS1" EXACT [OMIM:126800]
synonym: "Duane syndrome" RELATED [OMIM:126800]
synonym: "DURS1" RELATED [GARD:0010763, OMIM:126800]
synonym: "retraction syndrome" RELATED [OMIM:126800]
xref: GARD:0010763 {source="MONDO:equivalentTo"}
xref: OMIM:126800 {source="MONDO:equivalentTo", source="GARD:0010763"}
xref: SCTID:128082002 {source="MONDO:equivalentTo"}
is_a: MONDO:0007473 {source="OMIM:126800", source="linkedlifedata"} ! Duane retraction syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0994516
property_value: exactMatch http://identifiers.org/omim/126800
property_value: exactMatch http://identifiers.org/snomedct/128082002
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1 xsd:anyURI {source="GARD:0010763"}

[Term]
id: MONDO:0024266
name: patent ductus arteriosus 3
def: "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "patent ductus arteriosus 3; PDA3" EXACT [OMIM:617039]
synonym: "patent ductus arteriosus caused by mutation in PRDM6" EXACT [MONDO:design_pattern]
synonym: "PDA3" EXACT [OMIM:617039]
synonym: "PRDM6 patent ductus arteriosus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:617039 {source="MONDO:equivalentTo"}
is_a: MONDO:0011827 {source="DC-OMIM:617039", source="MONDO:Redundant", source="OMIM:617039"} ! patent ductus arteriosus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310753
property_value: exactMatch http://identifiers.org/omim/617039

[Term]
id: MONDO:0024267
name: obsolete epidemic encephalitis
is_obsolete: true
replaced_by: MONDO:0019384

[Term]
id: MONDO:0024268
name: superficial mycosis
def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902/]
synonym: "piedra" NARROW [DOID:0050133]
synonym: "steroid-modified tinea infection" EXACT [DOID:0050133]
synonym: "stratum corneum of epidermis fungal infectious disease" EXACT [MONDO:patterns/location]
xref: COHD:4077081 {source="MONDO:equivalentTo"}
xref: DOID:0050133 {source="MONDO:equivalentTo"}
xref: ICD10:B36.9 {source="DOID:0050133"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:276206000 {source="DOID:0050133", source="MONDO:equivalentTo"}
xref: UMLS:C2980104 {source="DOID:0050133", source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
property_value: closeMatch http://identifiers.org/snomedct/187002008
property_value: closeMatch http://identifiers.org/snomedct/187476003
property_value: exactMatch DOID:0050133
property_value: exactMatch http://identifiers.org/snomedct/276206000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2980104

[Term]
id: MONDO:0024270
name: parasitic intestinal disease
def: "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." [MESH:D007411]
synonym: "disease, parasitic intestinal" RELATED [MESH:D007411]
synonym: "diseases, parasitic intestinal" RELATED [MESH:D007411]
synonym: "intestinal disease, parasitic" RELATED [MESH:D007411]
synonym: "intestine parasitic infection" EXACT [MONDO:patterns/location]
synonym: "parasitic intestinal disease" EXACT [MESH:D007411]
synonym: "parasitic intestinal diseases" RELATED [MESH:D007411]
xref: MESH:D007411 {source="MONDO:equivalentTo"}
xref: UMLS:C0021832 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="MESH:D007411", source="MONDO:Entailed", source="MONDO:Redundant"} ! intestinal disease
is_a: MONDO:0005135 {source="MESH:D007411", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0024270"} ! parasitic infection
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/mesh/D007411
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021832

[Term]
id: MONDO:0024271
name: intestinal helminthiasis
def: "A parasitic helminthiasis infectious disease that involves the intestine." [MONDO:patterns/location]
synonym: "intestine parasitic helminthiasis infectious disease" EXACT [MONDO:patterns/location]
xref: MESH:C531698 {source="MONDO:equivalentTo"}
xref: SCTID:26249004 {source="MONDO:equivalentTo"}
xref: UMLS:C0348287 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="MESH:C531698", source="MONDO:Redundant", source="linkedlifedata"} ! helminthiasis
is_a: MONDO:0024270 {source="MESH:C531698", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic intestinal disease
property_value: exactMatch http://identifiers.org/mesh/C531698
property_value: exactMatch http://identifiers.org/snomedct/26249004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348287

[Term]
id: MONDO:0024275
name: amebic dysentery
def: "dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." [MESH:D004404]
subset: gard_rare
synonym: "Amebiases, intestinal" RELATED [MESH:D004404]
synonym: "amebiasis, intestinal" RELATED [MESH:D004404]
synonym: "amebic colitides" RELATED [MESH:D004404]
synonym: "amebic colitis" RELATED [MESH:D004404]
synonym: "amebic dysenteries" RELATED [MESH:D004404]
synonym: "amebic dysentery" EXACT [GARD:0000652, MESH:D004404]
synonym: "amoebiases, intestinal" RELATED [MESH:D004404]
synonym: "amoebiasis due to Entamoeba histolytica" NARROW [GARD:0000652]
synonym: "amoebiasis, intestinal" RELATED [MESH:D004404]
synonym: "amoebic Colitides" RELATED [MESH:D004404]
synonym: "amoebic colitis" RELATED [MESH:D004404]
synonym: "amoebic dysenteries" RELATED [MESH:D004404]
synonym: "amoebic dysentery" RELATED [MESH:D004404]
synonym: "amoebic dysentery due to Entamoeba histolytica" NARROW [GARD:0000652]
synonym: "Colitides, amebic" RELATED [MESH:D004404]
synonym: "Colitides, amoebic" RELATED [MESH:D004404]
synonym: "colitis, amebic" RELATED [MESH:D004404]
synonym: "colitis, amoebic" RELATED [MESH:D004404]
synonym: "dysenteries, amebic" RELATED [MESH:D004404]
synonym: "dysenteries, amoebic" RELATED [MESH:D004404]
synonym: "dysentery, amoebic" RELATED [MESH:D004404]
synonym: "Entamoebiases, intestinal" RELATED [MESH:D004404]
synonym: "entamoebiasis, intestinal" RELATED [MESH:D004404]
synonym: "intestinal Amebiases" RELATED [MESH:D004404]
synonym: "intestinal amebiasis" RELATED [GARD:0000652, MESH:D004404]
synonym: "intestinal Amoebiases" RELATED [MESH:D004404]
synonym: "intestinal amoebiasis" RELATED [MESH:D004404]
synonym: "intestinal Entamoebiases" RELATED [MESH:D004404]
synonym: "intestinal entamoebiasis" RELATED [MESH:D004404]
xref: GARD:0000652 {source="MONDO:equivalentTo"}
xref: MESH:D004404 {source="MONDO:equivalentTo"}
xref: NCIT:C34558 {source="MONDO:equivalentTo"}
is_a: MONDO:0001955 ! protozoal dysentery
is_a: MONDO:0005644 {source="MESH:D004404", source="MONDO:Redundant"} ! amebiasis
intersection_of: MONDO:0001517 ! dysentery
intersection_of: MONDO:0005644 ! amebiasis
property_value: exactMatch http://identifiers.org/mesh/D004404
property_value: exactMatch NCIT:C34558

[Term]
id: MONDO:0024276
name: glandular cell neoplasm
synonym: "glandular cell epithelial neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell epithelium neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell tumor" EXACT [MONDO:cjm]
xref: HP:0031493 {source="MONDO:otherHierarchy"}
xref: NCIT:C7132 {source="MONDO:equivalentTo"}
xref: UMLS:C1333820 {source="NCIT:C7132", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="MONDOLEX:0024276", source="NCIT:C7132"} ! epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333820
property_value: exactMatch NCIT:C7132

[Term]
id: MONDO:0024277
name: neonatal thrombocytopenia
synonym: "neonatal purpura" RELATED []
synonym: "neonatal thrombocytopenia" EXACT []
synonym: "purpura of newborn" RELATED []
xref: MESH:D054098 {source="MONDO:equivalentTo"}
xref: SCTID:82835005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="MESH:D054098", source="linkedlifedata"} ! thrombocytopenia
property_value: exactMatch http://identifiers.org/mesh/D054098
property_value: exactMatch http://identifiers.org/snomedct/82835005

[Term]
id: MONDO:0024278
name: proctocolitis
def: "Inflammation of the rectum and colon." [NCIT:C77952]
synonym: "colorectum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of colorectum" EXACT []
synonym: "proctocolitis" EXACT [NCIT:C77952]
xref: NCIT:C77952 {source="MONDO:equivalentTo"}
xref: SCTID:418130002 {source="MONDO:equivalentTo"}
xref: UMLS:C0033247 {source="MONDO:equivalentTo", source="NCIT:C77952"}
is_a: MONDO:0005292 {source="MONDO:Inferred", source="linkedlifedata"} ! colitis (disease)
is_a: MONDO:0005538 {source="MONDO:Inferred", source="linkedlifedata"} ! proctitis
property_value: exactMatch http://identifiers.org/snomedct/418130002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033247
property_value: exactMatch NCIT:C77952

[Term]
id: MONDO:0024279
name: chronic endometritis
def: "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." [NCIT:C102820]
synonym: "chronic endometritis" EXACT [NCIT:C102820]
synonym: "endometritis, chronic" EXACT [MONDO:patterns/chronic]
xref: NCIT:C102820 {source="MONDO:equivalentTo"}
xref: SCTID:63922003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238104 {source="MONDO:equivalentTo", source="NCIT:C102820"}
is_a: MONDO:0000918 {source="MONDO:Redundant", source="NCIT:C102820", source="linkedlifedata"} ! endometritis
property_value: exactMatch http://identifiers.org/snomedct/63922003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238104
property_value: exactMatch NCIT:C102820

[Term]
id: MONDO:0024280
name: polyarticular arthritis
def: "An arthritis affecting five or more separate joints." [NCIT:C26996]
synonym: "polyarthritis" EXACT [NCIT:C26996]
synonym: "polyarticular arthritis" EXACT [NCIT:C26996]
xref: NCIT:C26996 {source="MONDO:equivalentTo"}
xref: SCTID:416956002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005578 {source="MONDOLEX:0024280", source="NCIT:C26996", source="linkedlifedata/inferred"} ! arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0162323
property_value: exactMatch http://identifiers.org/snomedct/416956002
property_value: exactMatch NCIT:C26996

[Term]
id: MONDO:0024281
name: juvenile chronic polyarthritis
def: "A group of conditions used to describe polyarthritis occurring in children." [NCIT:C26979]
synonym: "juvenile chronic polyarthritis" EXACT [NCIT:C26979]
xref: NCIT:C26979 {source="MONDO:equivalentTo"}
is_a: MONDO:0024280 {source="MONDOLEX:0024281", source="NCIT:C26979"} ! polyarticular arthritis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0409667
property_value: exactMatch NCIT:C26979

[Term]
id: MONDO:0024282
name: mucinous ovarian cancer
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." [NCIT:C40033]
synonym: "malignant ovarian mucinous neoplasm" EXACT [NCIT:C40033]
synonym: "malignant ovarian mucinous tumor" EXACT [NCIT:C40033]
synonym: "ovarian mucinous neoplasm, malignant" EXACT [MONDO:patterns/malignant]
xref: NCIT:C40033 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MOV {source="MONDO:equivalentTo"}
xref: UMLS:C1518233 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40033"}
is_a: MONDO:0003756 {source="MONDO:Redundant", source="NCIT:C40033"} ! ovarian mucinous neoplasm
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40033"} ! malignant epithelial tumor of ovary
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1518233
property_value: exactMatch NCIT:C40033

[Term]
id: MONDO:0024283
name: Demodex folliculitis
def: "A demodicidosis that involves the hair follicle." [MONDO:patterns/location]
synonym: "hair follicle demodicidosis" EXACT [MONDO:patterns/location]
xref: ICD9:133.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:240894003 {source="MONDO:equivalentTo"}
xref: UMLS:C0392666 {source="MONDO:equivalentTo"}
is_a: MONDO:0006552 {source="MONDOLEX:0024283", source="linkedlifedata"} ! folliculitis
is_a: MONDO:0017280 ! demodicidosis
is_a: MONDO:0021201 ! skin infection
is_a: MONDO:0024610 ! parasitic skin disease
property_value: exactMatch http://identifiers.org/snomedct/240894003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392666

[Term]
id: MONDO:0024284
name: demodicidosis of sebaceous gland
def: "A demodicidosis that involves the sebaceous gland." [MONDO:patterns/location]
synonym: "sebaceous gland demodicidosis" EXACT [MONDO:patterns/location]
is_a: MONDO:0006607 ! sebaceous gland disease
is_a: MONDO:0017280 ! demodicidosis
is_a: MONDO:0024610 ! parasitic skin disease

[Term]
id: MONDO:0024285
name: epsilon-heavy chain disease
synonym: "IgE heavy chain disease" RELATED []
xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:60620005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272254 {source="MONDO:equivalentTo"}
is_a: MONDO:0019464 {source="linkedlifedata"} ! heavy chain disease
property_value: exactMatch http://identifiers.org/snomedct/60620005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272254

[Term]
id: MONDO:0024286
name: benign blood vessel neoplasm
def: "A benign neoplasm arising from arteries or veins." [NCIT:C8537]
synonym: "benign blood vessel neoplasm" EXACT [NCIT:C8537]
synonym: "benign blood vessel tumor" EXACT [NCIT:C8537]
xref: NCIT:C8537 {source="MONDO:equivalentTo"}
xref: UMLS:C0685121 {source="MONDO:equivalentTo", source="NCIT:C8537"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0021080 {source="MONDO:Redundant", source="NCIT:C8537"} ! blood vessel neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0685121
property_value: exactMatch NCIT:C8537

[Term]
id: MONDO:0024287
name: congenital vascular malformation
def: "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." [NCIT:C112117]
synonym: "congenital vascular malformation" EXACT [MONDO:patterns/congenital]
synonym: "vascular malformation" BROAD [NCIT:C112117]
xref: NCIT:C112117 {source="MONDO:equivalentTo"}
is_a: MONDO:0024291 ! vascular malformation
intersection_of: MONDO:0024291 ! vascular malformation
intersection_of: has_modifier MONDO:0021140 ! congenital
relationship: has_modifier MONDO:0021140 ! congenital
property_value: exactMatch NCIT:C112117

[Term]
id: MONDO:0024288
name: hyperbilirubinemia
def: "A disease characterized by elevated level of the pigment bilirubin in the blood." [https://www.medicinenet.com/script/main/art.asp?articlekey=3833]
comment: May be acquired or inherited
synonym: "bilirubinemia" RELATED []
synonym: "hyperbilirubinemia" EXACT []
xref: SCTID:14783006 {source="MONDO:equivalentTo"}
xref: UMLS:C0020433 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024431 ! bilirubin metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/14783006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020433

[Term]
id: MONDO:0024289
name: obsolete disorder of bilirubin metabolism
is_obsolete: true
replaced_by: MONDO:0017755

[Term]
id: MONDO:0024290
name: enuresis
def: "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." [NCIT:C34588]
synonym: "enuresis" EXACT [NCIT:C34588]
xref: MESH:D004775 {source="MONDO:equivalentTo"}
xref: NCIT:C34588 {source="MONDO:equivalentTo"}
xref: UMLS:C0014394 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34588"}
is_a: MONDO:0002025 ! psychiatric disorder
property_value: exactMatch http://identifiers.org/mesh/D004775
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014394
property_value: exactMatch NCIT:C34588

[Term]
id: MONDO:0024291
name: vascular malformation
def: "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." [https://www.bsir.org/patients/vascular-malformations/]
comment: The majority are present at birth. Some can be acquired.
synonym: "malformation, vascular" RELATED [MESH:D054079]
synonym: "malformations, vascular" RELATED [MESH:D054079]
synonym: "vascular malformation" EXACT [MESH:D054079]
xref: MESH:D054079 {source="MONDO:equivalentTo"}
is_a: MONDO:0019063 {source="MONDO:Redundant", source="MONDO:cjm"} ! vascular anomaly
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/mesh/D054079

[Term]
id: MONDO:0024292
name: gastrointestinal polyp
def: "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." [NCIT:C35516]
synonym: "gastrointestinal polyp" EXACT [NCIT:C35516]
synonym: "gastrointestinal tract polyp" EXACT [NCIT:C35516]
synonym: "GI polyp" EXACT [NCIT:C35516]
xref: NCIT:C35516 {source="MONDO:equivalentTo"}
xref: UMLS:C0744333 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35516"}
is_a: MONDO:0004335 {source="NCIT:C35516"} ! digestive system disease
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C35516"} ! polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744333
property_value: exactMatch NCIT:C35516

[Term]
id: MONDO:0024293
name: polyposis, gastric, Dos Santos and de Magalhaes 1980
subset: n_of_one
synonym: "polyposis, gastric" RELATED [OMIM:175020]
xref: OMIM:175020 {source="MONDO:equivalentTo"}
xref: UMLS:C0236048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175020"}
is_a: MONDO:0000147 {source="MONDO:cjm"} ! polyposis
relationship: disease_has_feature MONDO:0008277 ! stomach polyp
property_value: exactMatch http://identifiers.org/omim/175020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0236048

[Term]
id: MONDO:0024294
name: skin disease caused by infection
def: "Skin diseases caused by bacteria, fungi, parasites, or viruses." [MESH:D012874]
synonym: "disease, infectious skin" RELATED [MESH:D012874]
synonym: "diseases, infectious skin" RELATED [MESH:D012874]
synonym: "infectious skin disease" RELATED [MESH:D012874]
synonym: "infectious skin diseases" RELATED [MESH:D012874]
synonym: "skin disease, infectious" RELATED [MESH:D012874]
xref: MESH:D012874 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="MESH:D012874", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disease
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/mesh/D012874

[Term]
id: MONDO:0024295
name: skin disease caused by bacterial infection
def: "Skin diseases caused by bacteria." [MESH:D017192]
synonym: "Bacteria caused skin disease caused by infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria skin disease caused by infection" EXACT []
synonym: "bacterial skin disease" RELATED [MESH:D017192]
synonym: "bacterial skin diseases" RELATED [MESH:D017192]
synonym: "disease, bacterial skin" RELATED [MESH:D017192]
synonym: "diseases, bacterial skin" RELATED [MESH:D017192]
synonym: "skin disease, bacterial" RELATED [MESH:D017192]
xref: MESH:D017192 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MESH:D017192", source="MONDO:Redundant", source="MONDOLEX:0024295"} ! bacterial infectious disease
is_a: MONDO:0024294 {source="MESH:D017192", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disease caused by infection
property_value: exactMatch http://identifiers.org/mesh/D017192

[Term]
id: MONDO:0024296
name: vascular neoplasm
def: "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." [NCIT:C7388]
synonym: "neoplasm of vascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of vascular tissue" EXACT [NCIT:C7388]
synonym: "neoplasms, vascular" EXACT [NCIT:C7388]
synonym: "tumor of vascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of vascular tissue" EXACT [NCIT:C7388]
synonym: "tumors, vascular" EXACT [NCIT:C7388]
synonym: "vascular neoplasm" EXACT [NCIT:C7388]
synonym: "vascular neoplasms" EXACT [NCIT:C7388]
synonym: "vascular system neoplasm" EXACT []
synonym: "vascular system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vascular system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "vascular tissue neoplasm" EXACT [NCIT:C7388]
synonym: "vascular tissue tumor" EXACT [NCIT:C7388]
synonym: "vascular tumor" EXACT [NCIT:C7388]
synonym: "vascular tumor, NOS" RELATED EXCLUDE [NCIT:C7388]
synonym: "vascular tumors" EXACT [NCIT:C7388]
xref: NCIT:C7388 {source="MONDO:equivalentTo"}
is_a: MONDO:0024757 ! cardiovascular neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0027668
property_value: exactMatch NCIT:C7388

[Term]
id: MONDO:0024297
name: nutritional or metabolic disease
def: "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." [MESH:D009750]
comment: Editor note: consider expanding to include endocrine
xref: ICD10:E00.E90 {source="MONDO:equivalentTo"}
xref: MESH:D009750 {source="MONDO:equivalentTo"}
xref: UMLS:C0028715 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
union_of: MONDO:0005066 ! metabolic disease
union_of: MONDO:0005137 ! nutritional disorder
property_value: exactMatch http://identifiers.org/mesh/D009750
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0028715

[Term]
id: MONDO:0024298
name: vitamin deficiency disorder
def: "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." [NCIT:C35772]
synonym: "Avitaminoses" RELATED [MESH:D001361]
synonym: "avitaminosis" EXACT [NCIT:C35772]
synonym: "deficiencies, vitamin" RELATED [MESH:D001361]
synonym: "deficiency, vitamin" RELATED [MESH:D001361]
synonym: "vitamin deficiencies" RELATED [MESH:D001361]
synonym: "vitamin deficiency" EXACT [MESH:D001361, NCIT:C35772]
synonym: "vitamin deficiency disorder" EXACT [NCIT:C35772]
xref: EFO:0005878 {source="MONDO:equivalentTo"}
xref: ICD9:269.1 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:269.2 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001361 {source="MONDO:equivalentTo"}
xref: NCIT:C35772 {source="MONDO:equivalentTo"}
xref: SCTID:85670002 {source="MONDO:equivalentTo"}
xref: UMLS:C0376286 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C1510471 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35772"}
is_a: MONDO:0006873 {source="MESH:D001361", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease
property_value: exactMatch http://identifiers.org/mesh/D001361
property_value: exactMatch http://identifiers.org/snomedct/85670002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376286
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1510471
property_value: exactMatch NCIT:C35772

[Term]
id: MONDO:0024299
name: vitamin D-dependent rickets
synonym: "VDDR" EXACT []
xref: SCTID:68295002 {source="MONDO:equivalentTo"}
xref: UMLS:C0221468 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005520 ! rickets (disease)
is_a: MONDO:0044980 ! disease of signal transduction
property_value: exactMatch http://identifiers.org/snomedct/68295002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221468

[Term]
id: MONDO:0024300
name: hypophosphatemic rickets
def: "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." [NCIT:C131449]
synonym: "acquired vitamin D resistant rickets" NARROW [MESH:D063730]
synonym: "acquired vitamin D-resistant rickets" NARROW [MESH:D063730]
synonym: "hypophosphatemia, vitamin D-resistant rickets" RELATED [MESH:D063730]
synonym: "hypophosphatemic Ricket" RELATED [MESH:D063730]
synonym: "hypophosphatemic rickets" EXACT [MESH:D063730, NCIT:C131449]
synonym: "hypophosphatemic vitamin D resistant rickets" RELATED [MESH:D063730]
synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [MESH:D063730]
synonym: "Phosphopenic rickets" EXACT [NCIT:C131449]
synonym: "Ricket, hypophosphatemic" RELATED [MESH:D063730]
synonym: "rickets, vitamin D resistant" RELATED DEPRECATED [MESH:D063730]
synonym: "rickets, vitamin D-resistant" RELATED DEPRECATED [MESH:D063730]
synonym: "vitamin D-resistant rickets" RELATED DEPRECATED [MESH:D063730]
xref: MESH:D063730 {source="MONDO:equivalentTo"}
xref: NCIT:C131449 {source="MONDO:equivalentTo"}
is_a: MONDO:0005520 {source="MESH:D063730", source="NCIT:C131449"} ! rickets (disease)
property_value: exactMatch http://identifiers.org/mesh/D063730
property_value: exactMatch NCIT:C131449

[Term]
id: MONDO:0024301
name: acquired mineral metabolism disease
def: "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired mineral metabolism disease" EXACT [MONDO:patterns/acquired]
synonym: "mineral metabolism disease" RELATED [DOID:0050032]
xref: DOID:0050032 {source="MONDO:equivalentTo"}
is_a: MONDO:0000226 ! mineral metabolism disease
is_a: MONDO:0006504 {source="DOID:0050032", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease
intersection_of: MONDO:0000226 ! mineral metabolism disease
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch DOID:0050032

[Term]
id: MONDO:0024302
name: internal hirudiniasis
def: "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." [https://medical-dictionary.thefreedictionary.com/internal+hirudiniasis]
xref: ICD10:B83.4 {source="MONDO:equivalentTo"}
xref: SCTID:187227006 {source="MONDO:equivalentTo"}
xref: UMLS:C0348999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001191 ! hirudiniasis
is_a: MONDO:0043424 ! digestive system infectious disease
is_a: MONDO:0044991 ! upper digestive tract disease
property_value: exactMatch http://identifiers.org/snomedct/187227006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348999

[Term]
id: MONDO:0024303
name: external hirudiniasis
def: "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." [https://medical-dictionary.thefreedictionary.com/external+hirudiniasis]
xref: ICD10:B88.3 {source="MONDO:equivalentTo"}
xref: SCTID:1086871000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C0392037 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001191 ! hirudiniasis
is_a: MONDO:0002875 ! parasitic ectoparasitic infectious disease
property_value: exactMatch http://identifiers.org/snomedct/1086871000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0392037

[Term]
id: MONDO:0024304
name: ichthyosis vulgaris
def: "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin." [NCIT:C84778]
synonym: "common ichthyosis" RELATED [GARD:0006752]
synonym: "fish scale disease" RELATED [GARD:0006752]
synonym: "ichthyosis vulgaris" EXACT [NCIT:C84778]
xref: GARD:0006752 {source="MONDO:equivalentTo"}
xref: NCIT:C84778 {source="MONDO:equivalentTo"}
is_a: MONDO:0019269 {source="NCIT:C84778"} ! ichthyosis (disease)
property_value: exactMatch NCIT:C84778
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris xsd:anyURI {source="GARD:0006752"}

[Term]
id: MONDO:0024305
name: acquired hyperprolactinemia
def: "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired hyperprolactinemia (disease)" EXACT [MONDO:patterns/acquired]
synonym: "Chiari-Frommel syndrome" EXACT [DOID:12700]
synonym: "hyperprolactinaemia" EXACT EXCLUDE [DOID:12700]
synonym: "hyperprolactinemia" RELATED [DOID:12700]
synonym: "pregnancy-related A-G syndrome" EXACT [DOID:12700]
xref: DOID:12700 {source="MONDO:equivalentTo"}
xref: ICD10:E22.1 {source="DOID:12700", source="MONDO:relatedTo"}
is_a: MONDO:0005804 ! hyperprolactinemia (disease)
is_a: MONDO:0006504 {source="DOID:12700"} ! acquired metabolic disease
intersection_of: MONDO:0005804 ! hyperprolactinemia (disease)
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch DOID:12700

[Term]
id: MONDO:0024306
name: acquired lactic acidosis
def: "An instance of lactic acidosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired lactic acidosis" EXACT [MONDO:patterns/acquired]
synonym: "lactic acidosis" RELATED [DOID:3650]
xref: DOID:3650 {source="EFO:1000036", source="MONDO:equivalentTo"}
xref: EFO:1000036 {source="MONDO:equivalentTo"}
xref: ICD10:E87.2 {source="DOID:3650"}
xref: UMLS_CUI:C0001125 {source="DOID:3650"}
is_a: MONDO:0006040 ! lactic acidosis
is_a: MONDO:0006504 {source="DOID:3650", source="DOID:3650/inferred", source="MONDO:Redundant"} ! acquired metabolic disease
intersection_of: MONDO:0006040 ! lactic acidosis
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch DOID:3650

[Term]
id: MONDO:0024307
name: prothrombin deficiency
is_a: MONDO:0002243 {source="MONDO:cjm"} ! hemorrhagic disease

[Term]
id: MONDO:0024308
name: pseudoxanthoma elasticum (inherited or acquired)
def: "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." [GARD:0009643]
synonym: "pseudoxanthoma elasticum" EXACT []
synonym: "PXE" EXACT [GARD:0009643]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:252246005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 ! integumentary system disease
property_value: exactMatch http://identifiers.org/snomedct/252246005
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:string {source="GARD:0009643"}

[Term]
id: MONDO:0024309
name: neuropathy, hereditary sensory and autonomic, type 2A
def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13" [DOID:0070155]
comment: Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125
synonym: "acroosteolysis, Giaccai type" RELATED [OMIM:201300]
synonym: "acroosteolysis, neurogenic" RELATED [OMIM:201300]
synonym: "hereditary sensory and autonomic neuropathy type 2A" RELATED [DOID:0070155]
synonym: "hereditary sensory and autonomic neuropathy type IIA" EXACT [DOID:0070155]
synonym: "HSAN 2A" EXACT [OMIM:201300]
synonym: "HSAN2A" EXACT [DOID:0070155, OMIM:201300]
synonym: "HSN 2A" EXACT [OMIM:201300]
synonym: "Morvan disease" RELATED DUBIOUS [OMIM:201300, PMID:13235976]
synonym: "neuropathy, congenital sensory" RELATED [OMIM:201300]
synonym: "neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A" EXACT [OMIM:201300]
synonym: "neuropathy, hereditary sensory radicular, autosomal recessive" RELATED [OMIM:201300]
synonym: "neuropathy, hereditary sensory, type 2A" EXACT [OMIM:201300]
synonym: "neuropathy, progressive sensory, of children" RELATED [OMIM:201300]
xref: DOID:0070155 {source="MONDO:equivalentTo"}
xref: OMIM:201300 {source="DOID:0070155", source="MONDO:equivalentTo"}
is_a: MONDO:0019941 {source="DOID:0070155", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
relationship: disease_shares_features_of MONDO:0008718 {source="PMID:13235976"} ! Morvan syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752089
property_value: exactMatch DOID:0070155
property_value: exactMatch http://identifiers.org/omim/201300

[Term]
id: MONDO:0024310
name: angiodysplasia of stomach
def: "A angiodysplasia that involves the stomach." [MONDO:patterns/location]
synonym: "gastric angiodysplasia" RELATED []
synonym: "gastric vascular dysplasia" RELATED []
synonym: "stomach angiodysplasia" EXACT [MONDO:patterns/location]
xref: SCTID:424802006 {source="MONDO:equivalentTo"}
xref: UMLS:C0744273 {source="MONDO:equivalentTo"}
is_a: MONDO:0002322 ! angiodysplasia
is_a: MONDO:0004298 ! stomach disease
property_value: exactMatch http://identifiers.org/snomedct/424802006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0744273

[Term]
id: MONDO:0024311
name: cancer affecting bone of limb skeleton
def: "A cancer that involves the limb bone." [MONDO:patterns/location]
synonym: "cancer of limb bone" EXACT [MONDO:patterns/cancer]
synonym: "limb bone cancer" EXACT [MONDO:patterns/location]
synonym: "malignant limb bone neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of limb bone" EXACT [MONDO:patterns/cancer]
xref: ICD10:C40 {source="MONDO:equivalentTo"}
is_a: MONDO:0002129 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0024311"} ! bone cancer
is_a: MONDO:0044967 ! limb disorder

[Term]
id: MONDO:0024312
name: cancer of short bone of upper limb
xref: ICD10:C40.1 {source="MONDO:equivalentTo"}
is_a: MONDO:0024311 {source="ICD10:C40.1"} ! cancer affecting bone of limb skeleton

[Term]
id: MONDO:0024313
name: staphylococcal infection
def: "infection by Staphylococcus." [NCIT:C35038]
synonym: "staphylococcal infection" EXACT [NCIT:C35038]
xref: MESH:D013203 {source="MONDO:equivalentTo"}
xref: NCIT:C35038 {source="MONDO:equivalentTo"}
xref: SCTID:56038003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MESH:D013203/inferred", source="MONDO:Redundant", source="NCIT:C35038", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038160
property_value: exactMatch http://identifiers.org/mesh/D013203
property_value: exactMatch http://identifiers.org/snomedct/56038003
property_value: exactMatch NCIT:C35038

[Term]
id: MONDO:0024314
name: parasitemia
def: "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" [MESH:D018512]
synonym: "Parasitemias" RELATED [MESH:D018512]
xref: MESH:D018512 {source="MONDO:equivalentTo"}
xref: UMLS:C0242723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="MESH:D018512", source="MONDOLEX:0024314"} ! parasitic infection
is_a: MONDO:0005570 ! hematologic disease
property_value: exactMatch http://identifiers.org/mesh/D018512
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242723

[Term]
id: MONDO:0024315
name: parasitic endophthalmitis
def: "Infection of the epicondyles by a parasite." [NCIT:C34587]
synonym: "parasitic endophthalmitis" EXACT [NCIT:C34587]
xref: ICD9:360.13 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C34587 {source="MONDO:equivalentTo"}
xref: SCTID:57100005 {source="MONDO:equivalentTo"}
xref: UMLS:C0014238 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34587"}
is_a: MONDO:0016047 {source="MONDO:Redundant", source="NCIT:C34587"} ! endophthalmitis
is_a: MONDO:0020947 ! parasitic eye infection
intersection_of: MONDO:0005135 ! parasitic infection
intersection_of: MONDO:0016047 ! endophthalmitis
property_value: exactMatch http://identifiers.org/snomedct/57100005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014238
property_value: exactMatch NCIT:C34587

[Term]
id: MONDO:0024316
name: physiological malfunction arising from mental factor
def: "A dysfunction in biological function that is due to a psychological process." [NCIT:C35186]
synonym: "physiological malfunction arising from mental Factor" EXACT [NCIT:C35186]
xref: NCIT:C35186 {source="MONDO:equivalentTo"}
xref: UMLS:C0154548 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35186", source="MONDO:equivalentTo"}
is_a: MONDO:0003117 {source="NCIT:C35186"} ! somatoform disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154548
property_value: exactMatch NCIT:C35186

[Term]
id: MONDO:0024317
name: chronic pain syndrome
def: "Chronic form of disorder involving pain." [MONDO:patterns/chronic]
synonym: "chronic disorder involving pain" EXACT []
synonym: "chronic pain disease" EXACT []
synonym: "disorder involving pain, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD10:G89.4 {source="MONDO:equivalentTo"}
xref: ICD9:338.4 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:373621006 {source="MONDO:equivalentTo"}
xref: UMLS:C1298685 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021668 ! disorder involving pain
property_value: exactMatch http://identifiers.org/snomedct/373621006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1298685

[Term]
id: MONDO:0024318
name: viral infection of central nervous system
synonym: "central nervous system viral infection" RELATED []
synonym: "viral disease of central nervous system" RELATED []
synonym: "viral infection of central nervous system" EXACT []
xref: ICD10:A80.A89 {source="MONDO:equivalentTo"}
xref: MESH:D020805 {source="MONDO:equivalentTo"}
xref: SCTID:302810003 {source="MONDO:equivalentTo"}
xref: UMLS:C0348165 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0024619 ! central nervous system infectious disorder
property_value: exactMatch http://identifiers.org/mesh/D020805
property_value: exactMatch http://identifiers.org/snomedct/302810003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0348165

[Term]
id: MONDO:0024320
name: inner ear neoplasm
def: "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." [NCIT:C39784]
synonym: "inner Ear neoplasm" EXACT [NCIT:C39784]
synonym: "internal Ear neoplasm" EXACT [NCIT:C39784]
synonym: "internal ear neoplasm" EXACT []
synonym: "internal ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "internal ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of internal ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of internal ear" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C39784 {source="MONDO:equivalentTo"}
xref: UMLS:C1512779 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39784", source="MONDO:equivalentTo"}
is_a: MONDO:0002467 {source="MONDO:Redundant", source="NCIT:C39784"} ! inner ear disease
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C39784"} ! ear neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512779
property_value: exactMatch NCIT:C39784

[Term]
id: MONDO:0024321
name: disorder of GPI anchor biosynthesis
def: "A disease that has its basis in the disruption of GPI anchor biosynthetic process." [MONDO:patterns/basis_in_disruption_of_process]
comment: May be inborn or somatic
synonym: "disorder of GPI anchor biosynthetic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "glycosylphosphatidylinositol biosynthesis defect" EXACT []
synonym: "GPI anchor biosynthetic process disease" EXACT []
synonym: "GPIBD" EXACT []
is_a: MONDO:0024322 {source="MONDO:cjm"} ! disorder of glycosylation

[Term]
id: MONDO:0024322
name: disorder of glycosylation
def: "A disease that has its basis in the disruption of glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
comment: May be inborn or somatic
synonym: "disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "glycosylation disease" EXACT [MONDO:design_pattern]
is_a: MONDO:0005066 ! metabolic disease

[Term]
id: MONDO:0024323
name: glomangiomyoma
def: "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle." [NCIT:C4223]
synonym: "glomangiomyoma" EXACT [NCIT:C4223]
xref: DOID:8020 {source="MONDO:equivalentTo"}
xref: ICDO:8713/0 {source="NCIT:C4223"}
xref: NCIT:C4223 {source="MONDO:equivalentTo", source="DOID:8020"}
xref: UMLS:C0334422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4223", source="DOID:8020"}
is_a: MONDO:0018327 {source="NCIT:C4223"} ! glomus tumor
relationship: excluded_subClassOf MONDO:0003342 {source="DOID:8020"} ! benign perivascular tumor
property_value: closeMatch http://identifiers.org/snomedct/189745002
property_value: closeMatch http://identifiers.org/snomedct/34550005
property_value: exactMatch DOID:8020
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334422
property_value: exactMatch NCIT:C4223

[Term]
id: MONDO:0024325
name: cutaneous glomangiomyoma
def: "A glomangiomyoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "glomangiomyoma of skin" EXACT [MONDO:LexicalPattern]
synonym: "zone of skin glomangiomyoma" EXACT [MONDO:patterns/location]
xref: ICD9:227.6 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:403971002 {source="MONDO:equivalentTo"}
xref: UMLS:C1275227 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="MONDO:cjm"} ! skin glomus tumor
is_a: MONDO:0024323 ! glomangiomyoma
property_value: exactMatch http://identifiers.org/snomedct/403971002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275227

[Term]
id: MONDO:0024326
name: pleural adenomatoid tumor
def: "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma." [NCIT:C4499]
synonym: "benign mesothelioma of pleura" EXACT [NCIT:C4499]
synonym: "benign mesothelioma of the pleura" EXACT [NCIT:C4499]
synonym: "pleura adenomatoid tumor" EXACT [MONDO:patterns/location]
synonym: "pleural adenomatoid tumor" EXACT [NCIT:C4499]
synonym: "pleural benign mesothelioma" EXACT [NCIT:C4499]
synonym: "pleural mesothelioma, benign" EXACT [NCIT:C4499]
xref: NCIT:C4499 {source="MONDO:equivalentTo"}
is_a: MONDO:0002373 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0024326"} ! benign mesothelioma
is_a: MONDO:0003308 {source="MONDO:Redundant", source="MONDOLEX:0024326", source="NCIT:C4499"} ! pleural mesothelioma
is_a: MONDO:0004230 {source="MONDO:Redundant", source="MONDOLEX:0024326", source="NCIT:C4499"} ! adenomatoid tumor
is_a: MONDO:0021457 {source="MONDO:Redundant", source="NCIT:C4499"} ! benign neoplasm of pleura
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346112
property_value: exactMatch NCIT:C4499

[Term]
id: MONDO:0024327
name: chronic renal failure syndrome
def: "Impairment of the renal function due to chronic kidney damage." [NCIT:C9438]
synonym: "chronic kidney failure" EXACT []
synonym: "Chronic renal disease" EXACT [NCIT:C9438]
synonym: "chronic renal failure" EXACT [NCIT:C9438]
synonym: "chronic renal failure disease" EXACT [NCIT:C9438-modified]
synonym: "CRF - chronic renal failure" EXACT [NCIT:C9438]
synonym: "kidney failure, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD9:585.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D051436 {source="MONDO:equivalentTo"}
xref: NCIT:C9438 {source="MONDO:equivalentTo"}
xref: SCTID:90688005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001106 {source="MESH:D051436", source="MONDO:Redundant", source="NCIT:C9438", source="linkedlifedata"} ! kidney failure
is_a: MONDO:0005300 {source="MONDO:Redundant", source="NCIT:C9438"} ! chronic kidney disease
property_value: exactMatch http://identifiers.org/mesh/D051436
property_value: exactMatch http://identifiers.org/snomedct/90688005
property_value: exactMatch NCIT:C9438

[Term]
id: MONDO:0024330
name: infectious otitis media
def: "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space." [NCIT:C84354]
synonym: "acute otitis Media" EXACT [NCIT:C84354]
synonym: "AOM" EXACT [NCIT:C84354]
synonym: "infectious otitis Media" EXACT [NCIT:C84354]
synonym: "middle Ear infection" EXACT [NCIT:C84354]
synonym: "otitis media" BROAD [NCIT:C84354]
xref: NCIT:C84354 {source="MONDO:equivalentTo"}
xref: UMLS:C0271429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C2827407 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84354"}
is_a: MONDO:0005441 {source="MONDO:Redundant", source="NCIT:C84354"} ! otitis media (disease)
is_a: MONDO:0021666 {source="MONDO:Redundant", source="NCIT:C84354"} ! ear infection
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271429
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2827407
property_value: exactMatch NCIT:C84354

[Term]
id: MONDO:0024331
name: colorectal carcinoma
def: "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C2955]
synonym: "cancer of large bowel" EXACT [NCIT:C2955]
synonym: "cancer of large intestine" EXACT [NCIT:C2955]
synonym: "cancer of the large bowel" EXACT [NCIT:C2955]
synonym: "cancer of the large intestine" EXACT [NCIT:C2955]
synonym: "carcinoma of colorectum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of large bowel" EXACT [NCIT:C2955]
synonym: "carcinoma of large intestine" EXACT [NCIT:C2955]
synonym: "carcinoma of the large bowel" EXACT [NCIT:C2955]
synonym: "carcinoma of the large intestine" EXACT [NCIT:C2955]
synonym: "colorectal (colon or rectal) cancer" EXACT [NCIT:C2955]
synonym: "colorectal cancer" EXACT [NCIT:C2955]
synonym: "colorectal cancer, NOS" RELATED EXCLUDE [NCIT:C2955]
synonym: "colorectal carcinoma" EXACT [NCIT:C2955]
synonym: "colorectum carcinoma" EXACT [MONDO:patterns/location]
synonym: "CRC" EXACT [NCIT:C2955]
synonym: "large bowel cancer" EXACT [NCIT:C2955]
synonym: "large bowel carcinoma" EXACT [NCIT:C2955]
synonym: "large intestine cancer" EXACT [NCIT:C2955]
synonym: "large intestine carcinoma" EXACT [NCIT:C2955]
xref: DOID:0080199 {source="MONDO:equivalentTo"}
xref: NCIT:C2955 {source="DOID:0080199", source="MONDO:equivalentTo"}
xref: UMLS:CN221574 {source="MONDO:equivalentTo"}
is_a: MONDO:0005575 {source="DOID:0080199", source="DOID:0080199/inferred", source="MONDO:Redundant", source="MONDOLEX:0024331", source="NCIT:C2955"} ! colorectal cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C2955"} ! digestive system carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009402
property_value: exactMatch DOID:0080199
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN221574
property_value: exactMatch NCIT:C2955

[Term]
id: MONDO:0024332
name: perennial allergic rhinitis
def: "Allergic rhinitis caused by indoor allergens and lasting year round." [NCIT:C92189]
synonym: "non-seasonal allergic rhinitis" EXACT [NCIT:C92189]
synonym: "nonseasonal allergic rhinitis" EXACT [NCIT:C92189-variant]
synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189]
xref: NCIT:C92189 {source="MONDO:equivalentTo"}
xref: SCTID:446096008 {source="MONDO:equivalentTo"}
xref: UMLS:C0035457 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C92189"}
is_a: MONDO:0011786 {source="MONDOLEX:0024332", source="NCIT:C92189", source="linkedlifedata"} ! allergic rhinitis
property_value: exactMatch http://identifiers.org/snomedct/446096008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035457
property_value: exactMatch NCIT:C92189

[Term]
id: MONDO:0024333
name: sciatica
def: "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina." [MESH:D012585]
synonym: "bilateral sciatica" RELATED [MESH:D012585]
synonym: "bilateral sciaticas" RELATED [MESH:D012585]
synonym: "neuralgia, sciatic" RELATED [MESH:D012585]
synonym: "neuralgias, sciatic" RELATED [MESH:D012585]
synonym: "sciatic neuralgia" RELATED [MESH:D012585]
synonym: "sciatic Neuralgias" RELATED [MESH:D012585]
synonym: "sciatica, bilateral" RELATED [MESH:D012585]
xref: ICD9:724.3 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D012585 {source="MONDO:equivalentTo"}
xref: SCTID:23056005 {source="MONDO:equivalentTo"}
is_a: MONDO:0006960 {source="MESH:D012585", source="linkedlifedata"} ! sciatic neuropathy
is_a: MONDO:0021667 {source="MESH:D012585", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neuralgia
property_value: exactMatch http://identifiers.org/mesh/D012585
property_value: exactMatch http://identifiers.org/snomedct/23056005

[Term]
id: MONDO:0024334
name: peripheral nerve lesion
is_a: MONDO:0005244 ! peripheral neuropathy

[Term]
id: MONDO:0024335
name: retrobulbar neuritis
xref: SCTID:230507009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005885 {source="linkedlifedata"} ! optic neuritis
property_value: exactMatch http://identifiers.org/snomedct/230507009

[Term]
id: MONDO:0024336
name: vulvar adenocarcinoma
def: "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." [NCIT:C6380]
synonym: "adenocarcinoma of the vulva" EXACT [DOID:2098, NCIT:C6380]
synonym: "adenocarcinoma of vulva" EXACT [DOID:2098, NCIT:C6380]
synonym: "mammalian vulva adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "vulva adenocarcinoma" EXACT [MONDO:0002208]
synonym: "vulvar adenocarcinoma" EXACT [NCIT:C6380]
xref: DOID:2098 {source="MONDO:equivalentTo"}
xref: NCIT:C6380 {source="DOID:2098", source="MONDO:equivalentTo"}
xref: Orphanet:494454 {source="MONDO:equivalentTo"}
xref: UMLS:C1336975 {source="DOID:2098", source="MONDO:equivalentTo", source="NCIT:C6380"}
is_a: MONDO:0002198 {source="MONDO:Redundant", source="NCIT:C6380"} ! vulvar glandular neoplasm
is_a: MONDO:0004970 {source="DOID:2098", source="MONDO:Redundant", source="MONDOLEX:0024336", source="NCIT:C6380"} ! adenocarcinoma
is_a: MONDO:0005215 {source="DOID:2098", source="MONDO:Redundant", source="MONDOLEX:0024336", source="NCIT:C6380", source="Orphanet:494454"} ! vulvar carcinoma
property_value: exactMatch DOID:2098
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336975
property_value: exactMatch NCIT:C6380
property_value: exactMatch Orphanet:494454

[Term]
id: MONDO:0024337
name: urothelial neoplasm
def: "A neoplasm involving a urothelium." [MONDO:patterns/neoplasm]
synonym: "neoplasm of urothelium" EXACT [MONDO:patterns/neoplasm]
synonym: "transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39852]
synonym: "tumor of urothelium" EXACT [MONDO:patterns/neoplasm]
synonym: "urothelial neoplasm" EXACT [NCIT:C39852]
synonym: "urothelium neoplasm" EXACT []
synonym: "urothelium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urothelium tumor" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C39852 {source="MONDO:equivalentTo"}
xref: UMLS:C1519840 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C39852", source="MONDO:equivalentTo"}
is_a: MONDO:0021066 {source="MONDO:Redundant", source="MONDOLEX:0024337", source="NCIT:C39852"} ! urinary system neoplasm
is_a: MONDO:0037254 {source="NCIT:C39852"} ! transitional cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1519840
property_value: exactMatch NCIT:C39852

[Term]
id: MONDO:0024338
name: mucinous neoplasm
synonym: "mucinous neoplasm" EXACT [NCIT:C7070]
synonym: "mucinous tumor" EXACT [NCIT:C7070]
xref: NCIT:C7070 {source="MONDO:equivalentTo"}
xref: UMLS:C1334811 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7070"}
is_a: MONDO:0024276 {source="NCIT:C7070"} ! glandular cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334811
property_value: exactMatch NCIT:C7070

[Term]
id: MONDO:0024339
name: lymph node neoplasm
def: "A neoplasm involving a lymph node." [MONDO:patterns/neoplasm]
synonym: "lymph node neoplasm" EXACT [NCIT:C35497]
synonym: "lymph node neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lymph node tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of lymph node" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lymph node" EXACT [MONDO:patterns/neoplasm]
xref: GARD:0006932 {source="MONDO:equivalentTo"}
xref: NCIT:C35497 {source="MONDO:equivalentTo"}
is_a: MONDO:0002334 {source="NCIT:C35497"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C35497"} ! lymph node disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0596869
property_value: exactMatch NCIT:C35497

[Term]
id: MONDO:0024340
name: retinal neuroblastoma
def: "A neuroblastoma arising from the retina." [NCIT:C6956]
synonym: "neuroblastoma of retina" EXACT [NCIT:C6956]
synonym: "neuroblastoma of the retina" EXACT [NCIT:C6956]
synonym: "retina neuroblastoma" EXACT [MONDO:patterns/location]
synonym: "retinal neuroblastoma" EXACT [NCIT:C6956]
xref: NCIT:C6956 {source="MONDO:equivalentTo"}
is_a: MONDO:0005072 {source="MONDO:Redundant", source="NCIT:C6956"} ! neuroblastoma
is_a: MONDO:0021231 ! retina neoplasm
property_value: exactMatch NCIT:C6956

[Term]
id: MONDO:0024341
name: retinal cell neoplasm
def: "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." []
synonym: "retinal cell neoplasm" EXACT [NCIT:C7061]
synonym: "retinal cell tumor" EXACT [NCIT:C7061]
synonym: "retinal neural cell neoplasm" EXACT [NCIT:C7061]
xref: NCIT:C7061 {source="MONDO:equivalentTo"}
xref: UMLS:C1335765 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7061"}
is_a: MONDO:0021231 {source="NCIT:C7061"} ! retina neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335765
property_value: exactMatch NCIT:C7061

[Term]
id: MONDO:0024343
name: pityriasis simplex
synonym: "dandruff" RELATED []
synonym: "furfuracea" RELATED []
synonym: "pityriasis simplex" EXACT []
xref: ICD9:690.18 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:200767005 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/200767005

[Term]
id: MONDO:0024344
name: pityriasis folliculorum
synonym: "pityriasis folliculorum" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:200993008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406312 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/200993008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406312

[Term]
id: MONDO:0024345
name: pityriasis streptogenes
synonym: "pityriasis streptogenes" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:200994002 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/200994002

[Term]
id: MONDO:0024346
name: pityriasis amiantacea
synonym: "pityriasis amiantacea" EXACT []
synonym: "tinea amiantacea" RELATED []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:238924007 {source="MONDO:equivalentTo"}
xref: UMLS:C0343100 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/238924007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343100

[Term]
id: MONDO:0024348
name: pityriasis capitis
synonym: "pityriasis capitis" EXACT []
xref: SCTID:400201008 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/400201008

[Term]
id: MONDO:0024349
name: pityriasis alba
synonym: "pityriasis alba" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:402296004 {source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/402296004

[Term]
id: MONDO:0024350
name: pityriasis steatoides
synonym: "pityriasis steatoides" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:403426003 {source="MONDO:equivalentTo"}
xref: UMLS:C1274781 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease)
property_value: exactMatch http://identifiers.org/snomedct/403426003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274781

[Term]
id: MONDO:0024351
name: familial pityriasis rubra pilaris
def: "An instance of pityriasis rubra pilaris that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: TODO axiomatize
synonym: "hereditary pityriasis rubra pilaris" EXACT [MONDO:patterns/hereditary]
synonym: "Pityriasis rubra pilaris--familial type" RELATED [MESH:C531784]
xref: MESH:C531784 {source="MONDO:equivalentTo"}
xref: UMLS:C2930842 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008251 {source="MESH:C531784", source="MONDO:Redundant"} ! pityriasis rubra pilaris
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0008251 ! pityriasis rubra pilaris
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C531784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930842

[Term]
id: MONDO:0024352
name: viral respiratory tract infection
def: "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." [NCIT:C27219]
synonym: "viral respiratory tract infection" EXACT [NCIT:C27219]
xref: ICD9:519.8 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C27219 {source="MONDO:equivalentTo"}
xref: SCTID:312133006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="NCIT:C27219", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! viral infectious disease
is_a: MONDO:0024355 ! respiratory tract infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0877203
property_value: exactMatch http://identifiers.org/snomedct/312133006
property_value: exactMatch NCIT:C27219

[Term]
id: MONDO:0024354
name: cytomegalovirus pneumonia
def: "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating." [NCIT:C35360]
synonym: "CMV pneumonia" EXACT [NCIT:C35360]
synonym: "Cytomegaloviral pneumonia" EXACT [NCIT:C35360]
synonym: "Cytomegalovirus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cytomegalovirus pneumonia" EXACT [NCIT:C35360]
synonym: "cytomegalovirus pneumonia" EXACT []
xref: NCIT:C35360 {source="MONDO:equivalentTo"}
xref: SCTID:7678002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276253 {source="NCIT:C35360", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005132 {source="MONDO:Redundant", source="NCIT:C35360", source="linkedlifedata"} ! cytomegalovirus infection
is_a: MONDO:0006012 ! viral pneumonia
property_value: exactMatch http://identifiers.org/snomedct/7678002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276253
property_value: exactMatch NCIT:C35360

[Term]
id: MONDO:0024355
name: respiratory tract infectious disease
def: "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." [MESH:D012141]
synonym: "infection, respiratory tract" RELATED [MESH:D012141]
synonym: "infections, respiratory" RELATED [MESH:D012141]
synonym: "infections, respiratory tract" RELATED [MESH:D012141]
synonym: "infections, upper respiratory" RELATED [MESH:D012141]
synonym: "infections, upper respiratory tract" RELATED [MESH:D012141]
synonym: "respiratory infection, upper" NARROW [MESH:D012141]
synonym: "respiratory infections" RELATED [MESH:D012141]
synonym: "respiratory tract infection" RELATED [MESH:D012141]
synonym: "upper respiratory infections" NARROW [MESH:D012141]
synonym: "upper respiratory tract infections" NARROW [MESH:D012141]
xref: ICD9:519.8 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012141 {source="MONDO:equivalentTo"}
xref: SCTID:275498002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 ! respiratory system disease
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/mesh/D012141
property_value: exactMatch http://identifiers.org/snomedct/275498002

[Term]
id: MONDO:0024356
name: primary central sleep apnea syndrome
synonym: "primary central sleep apnea" EXACT []
xref: ICD10:G47.31 {source="MONDO:equivalentTo"}
xref: ICD9:327.21 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:9741000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C0751762 {source="MONDO:equivalentTo"}
is_a: MONDO:0004731 {source="MONDOLEX:0024356", source="linkedlifedata"} ! central sleep apnea syndrome
property_value: exactMatch http://identifiers.org/snomedct/9741000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751762

[Term]
id: MONDO:0024357
name: drug induced central sleep apnea
synonym: "drug induced central sleep apnea" EXACT []
xref: SCTID:104831000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C3662033 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004731 ! central sleep apnea syndrome
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/snomedct/104831000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662033

[Term]
id: MONDO:0024358
name: complex sleep apnea
def: "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." [PMID:23861580]
synonym: "complex sleep apnea" EXACT [DOID:0080302, PMID:23861580]
synonym: "CompSAS" EXACT [PMID:23861580]
synonym: "mixed sleep apnea" EXACT []
xref: DOID:0080302 {source="MONDO:equivalentTo"}
xref: SCTID:230493001 {source="MONDO:equivalentTo", source="DOID:0080302"}
is_a: MONDO:0004731 {source="MONDO:Redundant", source="PMID:23861580", source="linkedlifedata"} ! central sleep apnea syndrome
is_a: MONDO:0007147 {source="MONDO:Redundant", source="PMID:23861580", source="linkedlifedata"} ! obstructive sleep apnea syndrome
intersection_of: MONDO:0004731 {source="linkedlifedata"} ! central sleep apnea syndrome
intersection_of: MONDO:0007147 {source="linkedlifedata"} ! obstructive sleep apnea syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0338495
property_value: exactMatch DOID:0080302
property_value: exactMatch http://identifiers.org/snomedct/230493001

[Term]
id: MONDO:0024359
name: central sleep apnea due to periodic breathing
synonym: "central sleep apnea due to periodic breathing" EXACT []
xref: ICD9:327.27 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:786.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:85721000119105 {source="MONDO:equivalentTo"}
xref: UMLS:C3662057 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004731 {source="MONDOLEX:0024359", source="linkedlifedata"} ! central sleep apnea syndrome
property_value: exactMatch http://identifiers.org/snomedct/85721000119105
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662057

[Term]
id: MONDO:0024360
name: central sleep apnea caused by high altitude
synonym: "central sleep apnea caused by high altitude" EXACT []
synonym: "central sleep apnea due to high altitude" RELATED []
xref: SCTID:91441000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C4075997 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004731 {source="MONDOLEX:0024360", source="linkedlifedata"} ! central sleep apnea syndrome
property_value: exactMatch http://identifiers.org/snomedct/91441000119109
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4075997

[Term]
id: MONDO:0024361
name: circadian rhythm sleep disorder
def: "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)" [https://www.circadiansleepdisorders.org/defs.php]
synonym: "circadian sleep disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php]
synonym: "disorders of the sleep-wake schedule" EXACT []
synonym: "sleep-wake schedule disorder" EXACT []
xref: ICD10:G47.2 {source="MONDO:equivalentTo"}
xref: ICD9:327.30 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C95071 {source="MONDO:equivalentTo"}
xref: SCTID:3745000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003406 {source="ICD10:G47.2", source="MONDO:Redundant", source="NCIT:C95071", source="linkedlifedata/inferred"} ! sleep-wake disorder
property_value: exactMatch http://identifiers.org/snomedct/3745000
property_value: exactMatch NCIT:C95071

[Term]
id: MONDO:0024363
name: rapid eye movement sleep disorder
synonym: "repeated rapid eye movement sleep interruptions" EXACT []
xref: ICD9:379.59 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:192004002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005937 ! REM sleep behavior disorder
is_a: MONDO:0024361 {source="MONDO:Redundant", source="linkedlifedata"} ! circadian rhythm sleep disorder
property_value: exactMatch http://identifiers.org/snomedct/192004002

[Term]
id: MONDO:0024376
name: sleep disorder, initiating and maintaining sleep
synonym: "disorders of initiating and maintaining sleep" EXACT []
xref: SCTID:194437008 {source="MONDO:equivalentTo"}
is_a: MONDO:0003406 {source="linkedlifedata"} ! sleep-wake disorder
property_value: exactMatch http://identifiers.org/snomedct/194437008

[Term]
id: MONDO:0024377
name: circadian rhythm sleep disorder, delayed sleep phase type
def: "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "delayed sleep phase syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "DSPD" EXACT [DOID:0111141]
synonym: "DSPS" EXACT [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "sleep wake schedule disorder, delayed phase type" EXACT []
synonym: "sleep-wake schedule disorder, delayed phase" RELATED []
synonym: "sleepwake schedule disorder, delayed phase" RELATED []
xref: DOID:0111141 {source="MONDO:equivalentTo"}
xref: ICD10:G47.21 {source="MONDO:equivalentTo"}
xref: SCTID:28011000119104 {source="MONDO:equivalentTo"}
xref: UMLS:C0393770 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.21", source="MONDOLEX:0024377", source="linkedlifedata"} ! circadian rhythm sleep disorder
property_value: exactMatch DOID:0111141
property_value: exactMatch http://identifiers.org/snomedct/28011000119104
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393770

[Term]
id: MONDO:0024378
name: circadian rhythm sleep disorder, advanced sleep phase type
def: "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "advanced sleep phase syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "ASPS" EXACT [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "circadian rhythm sleep disorder, advanced sleep phase" RELATED []
synonym: "circadian rhythm sleep disorder, advanced sleep phase type" EXACT []
synonym: "sleep-wake schedule disorder, advanced phase type" EXACT []
xref: ICD10:G47.22 {source="MONDO:equivalentTo"}
xref: ICD9:327.32 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:31537005 {source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.22", source="MONDOLEX:0024378", source="linkedlifedata"} ! circadian rhythm sleep disorder
property_value: exactMatch http://identifiers.org/snomedct/31537005

[Term]
id: MONDO:0024379
name: circadian rhythm sleep disorder, irregular sleep wake type
def: "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." [https://www.circadiansleepdisorders.org/defs.php#defISWD]
synonym: "irregular sleep-wake disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#defISWD]
synonym: "irregular sleep-wake pattern" EXACT []
synonym: "ISWD" EXACT [https://www.circadiansleepdisorders.org/defs.php#defISWD]
xref: ICD10:G47.23 {source="MONDO:equivalentTo"}
xref: ICD9:327.33 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:271793004 {source="MONDO:equivalentTo"}
xref: UMLS:C0393771 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.23", source="MONDOLEX:0024379", source="linkedlifedata"} ! circadian rhythm sleep disorder
property_value: exactMatch http://identifiers.org/snomedct/271793004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393771

[Term]
id: MONDO:0024381
name: circadian rhythm sleep disorder, jet lag type
def: "A circadian sleep disorder that results from travelling across time zones." [https://www.circadiansleepdisorders.org/defs.php#defJetLag]
synonym: "jet lag" EXACT [https://www.circadiansleepdisorders.org/defs.php#defJetLag]
xref: ICD10:G47.25 {source="MONDO:equivalentTo"}
xref: UMLS:C0231311 {source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.25", source="MONDOLEX:0024381"} ! circadian rhythm sleep disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0231311

[Term]
id: MONDO:0024382
name: circadian rhythm sleep disorder, shift work type
def: "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." [https://www.circadiansleepdisorders.org/defs.php#defSWD]
synonym: "circadian rhythm sleep disorder of shift work type" EXACT []
synonym: "shift work disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#SWD]
xref: ICD10:G47.26 {source="MONDO:equivalentTo"}
xref: SCTID:713498009 {source="MONDO:equivalentTo"}
is_a: MONDO:0024361 {source="ICD10:G47.26", source="MONDOLEX:0024382", source="linkedlifedata"} ! circadian rhythm sleep disorder
property_value: exactMatch http://identifiers.org/snomedct/713498009

[Term]
id: MONDO:0024385
name: obsolete arenavirus infectious disease
is_obsolete: true
replaced_by: MONDO:0005650

[Term]
id: MONDO:0024386
name: large cell lung carcinoma, clear cell variant
def: "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen." [NCIT:C4451]
synonym: "clear cell carcinoma of lung, large cell type" EXACT [NCIT:C4451]
synonym: "clear cell carcinoma of the lung" RELATED [ONCOTREE:CCLC]
synonym: "clear cell carcinoma of the lung, large cell type" EXACT [NCIT:C4451]
synonym: "clear cell lung carcinoma, large cell type" EXACT [NCIT:C4451]
synonym: "large cell lung carcinoma, clear cell variant" EXACT [NCIT:C4451]
xref: NCIT:C4451 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1707407 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4451", source="MONDO:equivalentTo"}
is_a: MONDO:0003050 {source="MONDOLEX:0024386", source="NCIT:C4451", source="ONCOTREE:CCLC"} ! lung large cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707407
property_value: exactMatch NCIT:C4451

[Term]
id: MONDO:0024387
name: benign ovarian sex cord-stromal tumor
def: "A sex cord-stromal tumor arising from the ovary, without metastatic potential." [NCIT:C6803]
synonym: "benign ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C6803]
synonym: "benign ovarian Sex cord-stromal tumor" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal tumor of ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal tumor of the ovary" EXACT [NCIT:C6803]
synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [NCIT:C6803]
synonym: "ovarian sex cord-stromal tumor, benign" EXACT [MONDO:patterns/benign]
synonym: "Sex cord stromal tumor, benign" EXACT [NCIT:C6803]
xref: NCIT:C6803 {source="MONDO:equivalentTo"}
xref: UMLS:C1332528 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000646 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian benign neoplasm
is_a: MONDO:0021657 {source="MONDO:Redundant", source="MONDOLEX:0024387", source="NCIT:C6803"} ! ovarian sex cord-stromal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346176
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332528
property_value: exactMatch NCIT:C6803

[Term]
id: MONDO:0024388
name: Clostridium infectious disease
alt_id: MONDO:0006707
def: "Infections with bacteria of the genus clostridium." [MESH:D003015]
synonym: "Clostridium infection" RELATED [MESH:D003015]
synonym: "commensal Clostridium infection" RELATED []
synonym: "commensal infection, Clostridium" RELATED []
synonym: "commensal infections, Clostridium" RELATED []
synonym: "infection, Clostridium" RELATED [MESH:D003015]
synonym: "infections, Clostridium" RELATED [MESH:D003015]
xref: EFO:1000874 {source="MONDO:equivalentTo"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D003015 {source="MONDO:equivalentTo", source="EFO:1000874"}
xref: SCTID:56688005 {source="MONDO:equivalentTo"}
is_a: MONDO:0021679 {source="MESH:D003015", source="linkedlifedata"} ! gram-positive bacterial infections
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: closeMatch DOID:3584
property_value: exactMatch http://identifiers.org/mesh/D003015
property_value: exactMatch http://identifiers.org/snomedct/56688005

[Term]
id: MONDO:0024389
name: anaerobic bacteria infectious disease
comment: Editor note: DP
synonym: "anaerobic bacterial infection" EXACT []
synonym: "infection caused by anaerobic bacteria" EXACT []
synonym: "infection due to anaerobic bacteria" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:423451008 {source="MONDO:equivalentTo"}
xref: UMLS:C0854328 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MONDOLEX:0024389", source="linkedlifedata"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/snomedct/423451008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854328

[Term]
id: MONDO:0024390
name: obsolete actinomycotic infectious disease
is_obsolete: true
replaced_by: MONDO:0006921

[Term]
id: MONDO:0024392
name: anaerobic balanitis
synonym: "anaerobic balanitis" EXACT []
xref: SCTID:236746000 {source="MONDO:equivalentTo"}
xref: UMLS:C0403764 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006672 ! balanitis
is_a: MONDO:0024389 {source="MONDO:Redundant", source="linkedlifedata"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0006672 ! balanitis
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease
property_value: exactMatch http://identifiers.org/snomedct/236746000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403764

[Term]
id: MONDO:0024404
name: obsolete meningitis caused by anaerobic bacteria
is_obsolete: true
replaced_by: MONDO:0002000

[Term]
id: MONDO:0024410
name: infection caused by Bifidobacterium
def: "A disease caused by infection with Bifidobacterium." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Bifidobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bifidobacterium disease or disorder" EXACT []
synonym: "Bifidobacterium infection" RELATED []
synonym: "Bifidobacterium infectious disease" EXACT []
synonym: "infection caused by Bifidobacterium" EXACT []
xref: SCTID:721759009 {source="MONDO:equivalentTo"}
xref: UMLS:C1096283 {source="MONDO:equivalentTo"}
is_a: MONDO:0006706 ! Bifidobacteriales infectious disease
is_a: MONDO:0021679 {source="linkedlifedata"} ! gram-positive bacterial infections
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: exactMatch http://identifiers.org/snomedct/721759009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096283

[Term]
id: MONDO:0024412
name: Peptostreptococcus infectious disease
def: "A disease caused by infection with Peptostreptococcus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Peptostreptococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Peptostreptococcus disease or disorder" EXACT []
synonym: "Peptostreptococcus infection" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:135341000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C1096562 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease
property_value: exactMatch http://identifiers.org/snomedct/135341000119101
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1096562

[Term]
id: MONDO:0024414
name: anaerobic cellulitis
synonym: "anaerobic cellulitis" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:238401006 {source="MONDO:equivalentTo"}
xref: UMLS:C0241828 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005230 ! cellulitis (disease)
is_a: MONDO:0024389 {source="MONDO:Redundant", source="linkedlifedata"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005230 ! cellulitis (disease)
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease
property_value: exactMatch http://identifiers.org/snomedct/238401006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0241828

[Term]
id: MONDO:0024415
name: hemorrhagic duodenitis
synonym: "erosive duodenitis" RELATED []
synonym: "hemorrhagic duodenitis" EXACT []
synonym: "multiple duodenal erosions" RELATED []
xref: ICD9:535.61 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:95531001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341245 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004627 ! duodenitis
property_value: exactMatch http://identifiers.org/snomedct/95531001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341245

[Term]
id: MONDO:0024416
name: Neorickettsia infectious disease
def: "A disease caused by infection with Neorickettsia." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Neorickettsia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neorickettsia disease or disorder" EXACT []
synonym: "neorickettsiosis" EXACT []
xref: SCTID:78355003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276121 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006922 ! Anaplasmataceae infectious disease
property_value: exactMatch http://identifiers.org/snomedct/78355003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276121

[Term]
id: MONDO:0024417
name: perceptual disorders
def: "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." [MESH:D010468]
xref: MESH:D010468 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
property_value: exactMatch http://identifiers.org/mesh/D010468

[Term]
id: MONDO:0024418
name: muscular fibrosis multifocal obstructed vessels
comment: Editor note: not in ORDO as of Apr 29 2018
subset: gard_rare
xref: GARD:0003857 {source="MONDO:equivalentTo"}
xref: Orphanet:2033 {source="MONDO:equivalentTo", source="GARD:0003857"}
is_a: MONDO:0002254 ! syndromic disease
property_value: exactMatch Orphanet:2033

[Term]
id: MONDO:0024419
name: enthesitis
def: "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." [NCIT:C114470]
synonym: "enthesis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "enthesitis" EXACT [NCIT:C114470]
synonym: "inflammation of enthesis" EXACT []
synonym: "inflammatory enthesopathy" EXACT []
xref: NCIT:C114470 {source="MONDO:equivalentTo"}
xref: SCTID:359643005 {source="MONDO:equivalentTo"}
xref: UMLS:C1282952 {source="NCIT:C114470", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002183 {source="MONDO:Redundant", source="linkedlifedata"} ! enthesopathy
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/359643005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282952
property_value: exactMatch NCIT:C114470

[Term]
id: MONDO:0024421
name: short stature contractures hypotonia
comment: Editor note: disappeared from Orphanet?
subset: gard_rare
synonym: "Hennekam Koss de Geest syndrome" RELATED [GARD:0004839]
xref: GARD:0004839 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: closeMatch Orphanet:2858

[Term]
id: MONDO:0024422
name: auditory perceptual disorders
def: "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." [MESH:D001308]
synonym: "acoustic perceptual disorder" NARROW [MESH:D001308]
synonym: "acoustic perceptual disorders" NARROW [MESH:D001308]
synonym: "auditory comprehension disorder" NARROW [MESH:D001308]
synonym: "auditory comprehension disorders" NARROW [MESH:D001308]
synonym: "auditory inattention" NARROW [MESH:D001308]
synonym: "auditory Inattentions" NARROW [MESH:D001308]
synonym: "auditory perceptual disorder" NARROW [MESH:D001308]
synonym: "auditory processing disorder" NARROW [MESH:D001308]
synonym: "auditory processing disorders" NARROW [MESH:D001308]
synonym: "comprehension disorder, auditory" NARROW [MESH:D001308]
synonym: "comprehension disorders, auditory" NARROW [MESH:D001308]
synonym: "disorder of sensory perception of sound" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sensory perception of sound" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder, acoustic perceptual" NARROW [MESH:D001308]
synonym: "disorder, auditory comprehension" NARROW [MESH:D001308]
synonym: "disorder, auditory processing" NARROW [MESH:D001308]
synonym: "disorder, Psychoacoustical" NARROW [MESH:D001308]
synonym: "disorders, acoustic perceptual" NARROW [MESH:D001308]
synonym: "disorders, auditory comprehension" NARROW [MESH:D001308]
synonym: "disorders, auditory processing" NARROW [MESH:D001308]
synonym: "disorders, Psychoacoustical" NARROW [MESH:D001308]
synonym: "inattention, auditory" NARROW [MESH:D001308]
synonym: "Inattentions, auditory" NARROW [MESH:D001308]
synonym: "perceptual disorder, acoustic" NARROW [MESH:D001308]
synonym: "perceptual disorder, auditory" NARROW [MESH:D001308]
synonym: "perceptual disorders, acoustic" NARROW [MESH:D001308]
synonym: "perceptual disorders, auditory" NARROW [MESH:D001308]
synonym: "processing disorder, auditory" NARROW [MESH:D001308]
synonym: "processing disorders, auditory" NARROW [MESH:D001308]
synonym: "Psychoacoustical disorder" NARROW [MESH:D001308]
synonym: "Psychoacoustical disorders" NARROW [MESH:D001308]
synonym: "sensory perception of sound disease" EXACT [MONDO:design_pattern]
xref: MESH:D001308 {source="MONDO:equivalentTo"}
xref: NCIT:C84575 {source="MONDO:equivalentTo"}
xref: SCTID:229752008 {source="MONDO:equivalentTo"}
xref: UMLS:C0751257 {source="MONDO:equivalentTo"}
is_a: MONDO:0021945 ! hearing disorder
property_value: exactMatch http://identifiers.org/mesh/D001308
property_value: exactMatch http://identifiers.org/snomedct/229752008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751257
property_value: exactMatch NCIT:C84575

[Term]
id: MONDO:0024429
name: Alice in wonderland syndrome
def: "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities." [https://en.wikipedia.org/wiki/Alice_in_Wonderland_syndrome]
xref: MESH:D062026 {source="MONDO:equivalentTo"}
xref: NCIT:C116362 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0024429", source="NCIT:C116362"} ! syndromic disease
is_a: MONDO:0021084 {source="MESH:D062026"} ! vision disorder
property_value: exactMatch http://identifiers.org/mesh/D062026
property_value: exactMatch NCIT:C116362

[Term]
id: MONDO:0024430
name: allesthesia
def: "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." [MESH:D066190]
synonym: "Allachesthesia" RELATED [MESH:D066190]
synonym: "Allachesthesias" RELATED [MESH:D066190]
synonym: "Allesthesias" RELATED [MESH:D066190]
synonym: "allochiria" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Allochiria#Alloesthesia, MESH:D066190]
synonym: "Alloesthesia" RELATED [MESH:D066190]
synonym: "Alloesthesias" RELATED [MESH:D066190]
synonym: "dyschiria" RELATED [MESH:D066190]
synonym: "Dyschirias" RELATED [MESH:D066190]
synonym: "false allochiria" RELATED [https://en.wikipedia.org/wiki/Allochiria#Alloesthesia]
xref: MESH:D066190 {source="MONDO:equivalentTo"}
is_a: MONDO:0024417 {source="MESH:D066190"} ! perceptual disorders
property_value: exactMatch http://identifiers.org/mesh/D066190

[Term]
id: MONDO:0024431
name: bilirubin metabolism disease
synonym: "disorder of bilirubin metabolism" EXACT []
xref: SCTID:80006005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/80006005

[Term]
id: MONDO:0024432
name: nerve plexus disease
alt_id: MONDO:0002733
def: "A disease that involves the nerve plexus." [MONDO:patterns/location]
synonym: "disease of nerve plexus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nerve plexus" EXACT []
synonym: "disorder of nerve plexus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of nerve plexus" RELATED [MONDO:patterns/location_top]
synonym: "nerve plexus disease" EXACT [MONDO:patterns/location]
synonym: "nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nerve plexus disorder" EXACT []
synonym: "plexopathy" EXACT [MONDO:cjm]
xref: DOID:3688 {source="MONDO:equivalentTo"}
xref: NCIT:C27744 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:3688"}
xref: SCTID:2231001 {source="MONDO:equivalentTo"}
xref: UMLS:C1335437 {source="MONDO:equivalentTo", source="DOID:3688", source="NCIT:C27744"}
is_a: MONDO:0005244 {source="linkedlifedata"} ! peripheral neuropathy
relationship: excluded_subClassOf MONDO:0005559 {source="DOID:3688"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0024236 {source="NCIT:C27744"} ! degenerative disorder
property_value: exactMatch DOID:3688
property_value: exactMatch http://identifiers.org/snomedct/2231001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335437
property_value: exactMatch NCIT:C27744

[Term]
id: MONDO:0024454
name: sacral nerve plexus disease
def: "A disease that involves the sacral nerve plexus." [MONDO:patterns/location]
synonym: "disease of sacral nerve plexus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of sacral nerve plexus" EXACT []
synonym: "disorder of sacral nerve plexus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of sacral nerve plexus" RELATED [MONDO:patterns/location_top]
synonym: "sacral nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sacral nerve plexus disorder" EXACT []
synonym: "sacral plexopathy" EXACT []
xref: GARD:0007597 {source="MONDO:equivalentTo"}
xref: MESH:C537224 {source="MONDO:equivalentTo"}
xref: UMLS:C2931445 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"}
is_a: MONDO:0001829 ! lumbosacral plexus lesion
property_value: exactMatch http://identifiers.org/mesh/C537224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931445

[Term]
id: MONDO:0024455
name: autosomal dominant Robinow syndrome 1
def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [OMIM:180700]
synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT [MONDO:design_pattern]
synonym: "DRS1" EXACT [OMIM:180700]
synonym: "fetal face syndrome" RELATED [OMIM:180700]
synonym: "Robinow dwarfism" RELATED [OMIM:180700]
synonym: "Robinow syndrome, autosomal dominant 1" RELATED [OMIM:180700]
synonym: "Robinow syndrome, autosomal dominant 1; DRS1" EXACT [OMIM:180700]
synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060766 {source="MONDO:equivalentTo"}
xref: OMIM:180700 {source="MONDO:equivalentTo"}
is_a: MONDO:0008389 {source="MONDO:Redundant", source="MONDOLEX:0024455", source="Orphanet:3107"} ! autosomal dominant Robinow syndrome
property_value: exactMatch DOID:0060766
property_value: exactMatch http://identifiers.org/omim/180700

[Term]
id: MONDO:0024456
name: anterior segment dysgenesis 3
def: "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" [http://disorders.eyes.arizona.edu/disorders/iridogoniodysgenesis-type-1]
comment: Editor note: check GARD re 2482
subset: gard_rare
synonym: "anterior segment dysgenesis 3" EXACT [MESH:C535535]
synonym: "anterior segment dysgenesis 3; ASGD3" EXACT [OMIM:601631]
synonym: "ASGD3" EXACT [MESH:C535535, OMIM:601631]
synonym: "FOXC1 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glaucoma iridogoniodysgenesia" RELATED [GARD:0002482]
synonym: "glaucoma iridogoniodysplasia, familial" RELATED [MESH:C535535, OMIM:601631]
synonym: "IGDA" EXACT [MESH:C535535]
synonym: "IGDA syndrome" EXACT [GARD:0002978]
synonym: "IRID1" EXACT [MESH:C535535, MONDO:Lexical, OMIM:601631]
synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT [MESH:C535535, OMIM:601631]
synonym: "iridogoniodysgenesis caused by mutation in FOXC1" EXACT [MONDO:design_pattern]
synonym: "iridogoniodysgenesis type 1" EXACT [GARD:0002978]
synonym: "iridogoniodysgenesis, type 1" EXACT [MESH:C535535, MONDO:Lexical, OMIM:601631]
synonym: "iridogoniodysgenesis, type 1; IRID1" EXACT [OMIM:601631]
synonym: "iris hypoplasia with glaucoma" RELATED [MESH:C535535, OMIM:601631]
xref: GARD:0002482 {source="MONDO:equivalentTo"}
xref: GARD:0002978 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C535535 {source="MONDO:equivalentTo"}
xref: OMIM:601631 {source="MONDO:equivalentTo"}
is_a: MONDO:0002289 {source="MESH:C535535"} ! iris disease
is_a: MONDO:0011119 ! iridogoniodysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866560
property_value: exactMatch http://identifiers.org/mesh/C535535
property_value: exactMatch http://identifiers.org/omim/601631
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia xsd:anyURI {source="GARD:0002482"}

[Term]
id: MONDO:0024457
name: neurodegeneration with brain iron accumulation 2A
comment: AR PLA2G6
synonym: "Hunter Carpenter Macdonald syndrome" RELATED [GARD:0002751]
synonym: "inaD" RELATED [OMIM:256600]
synonym: "INAD1" RELATED [OMIM:256600]
synonym: "infantile neuroaxonal dystrophy 1" EXACT [DOID:0110735]
synonym: "NBIA2A" RELATED [MONDO:Lexical, OMIM:256600]
synonym: "NBIA2a" EXACT [DOID:0110735]
synonym: "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene" RELATED [GARD:0002751]
synonym: "neuroaxonal dystrophy, infantile" RELATED [OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation 2A" EXACT [MONDO:Lexical, OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation 2A; NBIA2A" EXACT [OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation type 2A" EXACT [MONDORULE:4, OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation type 2a" EXACT [DOID:0110735, MONDORULE:4]
synonym: "neurodegeneration, PLA2G6-associated" EXACT [OMIM:256600]
synonym: "neurodegeneration, Pla2G6-associated" EXACT [OMIM:256600]
synonym: "neurodegeneration, Pla2g6-associated" EXACT [DOID:0110735]
synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600]
xref: DOID:0110735 {source="MONDO:equivalentTo"}
xref: GARD:0002751 {source="MONDO:equivalentTo"}
xref: OMIM:256600 {source="GARD:0002751", source="DOID:0110735", source="MONDO:equivalentTo", source="Orphanet:35069"}
is_a: MONDO:0017998 ! PLA2G6-associated neurodegeneration
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270724
property_value: exactMatch DOID:0110735
property_value: exactMatch http://identifiers.org/omim/256600
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome xsd:anyURI {source="GARD:0002751"}

[Term]
id: MONDO:0024458
name: disease of visual system
def: "A disease that involves the visual system." [MONDO:patterns/location]
synonym: "disease of visual system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of visual system" EXACT []
synonym: "disorder of visual system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of visual system" RELATED [MONDO:patterns/location_top]
synonym: "visual system disease" EXACT [MONDO:patterns/location]
synonym: "visual system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "visual system disorder" EXACT []
xref: SCTID:128127008 {source="MONDO:equivalentTo"}
is_a: MONDO:0021199 {source="MONDO:metaclass", source="indirect", source="linkedlifedata"} ! disease by anatomical system
property_value: exactMatch http://identifiers.org/snomedct/128127008

[Term]
id: MONDO:0024459
name: Aeromonas hydrophila intestinal disease
synonym: "intestinal infection caused by Aeromonas hydrophila" EXACT []
synonym: "intestinal infection due to Aeromonas hydrophila" EXACT []
xref: ICD9:008.47 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:446988001 {source="MONDO:equivalentTo"}
xref: UMLS:C2960005 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 ! intestinal disease
is_a: MONDO:0005117 ! Aeromonas hydrophila infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/snomedct/446988001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2960005

[Term]
id: MONDO:0024460
name: obsolete Herpesviridae infections
is_obsolete: true
replaced_by: MONDO:0005794

[Term]
id: MONDO:0024461
name: angiomatosis
def: "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling." [NCIT:C27503]
comment: Editor note: check this
synonym: "angiomatoses" RELATED [MESH:D000798]
synonym: "angiomatosis" EXACT [NCIT:C27503]
synonym: "diffuse angiomatosis" EXACT [NCIT:C27503]
synonym: "diffuse hemangioma" EXACT [NCIT:C27503]
synonym: "multiple hemangiomas" EXACT [NCIT:C27503]
xref: MESH:D000798 {source="MONDO:equivalentTo"}
xref: NCIT:C27503 {source="MONDO:equivalentTo"}
xref: SCTID:205562004 {source="MONDO:equivalentTo"}
xref: UMLS:C0002992 {source="MONDO:equivalentTo"}
is_a: MONDO:0024286 {source="NCIT:C27503"} ! benign blood vessel neoplasm
property_value: exactMatch http://identifiers.org/mesh/D000798
property_value: exactMatch http://identifiers.org/snomedct/205562004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0002992
property_value: exactMatch NCIT:C27503

[Term]
id: MONDO:0024462
name: familial cutaneous melanoma
def: "An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: consider merge with parent
synonym: "hereditary cutaneous melanoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: OMIMPS:155600 {source="MONDO:equivalentTo"}
is_a: MONDO:0005012 ! cutaneous melanoma (disease)
is_a: MONDO:0015950 ! inherited skin tumor
is_a: MONDO:0018961 ! familial melanoma
intersection_of: MONDO:0005012 ! cutaneous melanoma (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited

[Term]
id: MONDO:0024463
name: ovarian dysgenesis 1
synonym: "gonadal dysgenesis, 20 type" RELATED [OMIM:233300]
synonym: "gonadal dysgenesis, XX type" RELATED [OMIM:233300]
synonym: "ODG1" EXACT [OMIM:233300]
synonym: "ovarian dysgenesis 1; ODG1" EXACT [OMIM:233300]
synonym: "ovarian dysgenesis, hypergonadotropic, autosomal recessive" RELATED [OMIM:233300]
synonym: "ovarian dysgenesis, hypergonadotropic, with normal karyotype" RELATED [OMIM:233300]
synonym: "ovarian failure, hypergonadotropic" RELATED [OMIM:233300]
synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300]
synonym: "XXGD" RELATED [OMIM:233300]
xref: OMIM:233300 {source="MONDO:equivalentTo"}
is_a: MONDO:0009299 {source="MONDOLEX:0024463", source="OMIM:233300"} ! 46 XX gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/233300

[Term]
id: MONDO:0024464
name: pituitary hormone deficiency, combined, 1
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" EXACT [MONDO:design_pattern]
synonym: "CPHD1" EXACT [OMIM:613038]
synonym: "pituitary hormone deficiency, combined 1" RELATED [GARD:0010601]
synonym: "pituitary hormone deficiency, combined, 1; CPHD1" EXACT [OMIM:613038]
synonym: "POU1F1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:0010601 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: MESH:C567803 {source="MONDO:equivalentTo"}
xref: OMIM:613038 {source="MONDO:equivalentTo"}
xref: UMLS:C2751608 {source="MEDGEN:kboom-pr98-c99", source="OMIM:613038", source="MONDO:equivalentTo"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="MONDOLEX:0024464", source="OMIM:613038"} ! combined pituitary hormone deficiencies, genetic form
property_value: exactMatch http://identifiers.org/mesh/C567803
property_value: exactMatch http://identifiers.org/omim/613038
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2751608

[Term]
id: MONDO:0024465
name: surfactant metabolism dysfunction, pulmonary, 2
synonym: "desquamative interstitial pneumonitis due to surfactant Protein C deficiency" EXACT [OMIM:610913]
synonym: "interstitial lung disease due to surfactant Protein C deficiency" EXACT [OMIM:610913]
synonym: "pulmonary alveolar proteinosis, congenital, 2" EXACT [OMIM:610913]
synonym: "SMDP2" EXACT [OMIM:610913]
synonym: "surfactant metabolism dysfunction, pulmonary, 2; SMDP2" EXACT [OMIM:610913]
xref: OMIM:610913 {source="MONDO:equivalentTo"}
is_a: MONDO:0012580 {source="MONDOLEX:0024465", source="OMIM:610913"} ! hereditary pulmonary alveolar proteinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970470
property_value: exactMatch http://identifiers.org/omim/610913

[Term]
id: MONDO:0024466
name: facial paresis, hereditary congenital, 1
synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471]
synonym: "facial paresis, hereditary congenital, 1; HCFP1" EXACT [OMIM:601471]
synonym: "HCFP1" EXACT [OMIM:601471]
synonym: "Mobius syndrome 2" RELATED [OMIM:601471]
synonym: "Mobius syndrome 2, formerly" RELATED [OMIM:601471]
synonym: "Moebius syndrome 2" RELATED [OMIM:601471]
synonym: "Moebius syndrome 2, formerly" RELATED [OMIM:601471]
xref: OMIM:601471 {source="MONDO:equivalentTo"}
xref: UMLS:C1832284 {source="Orphanet:306527", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601471"}
is_a: MONDO:0011090 {source="OMIM:601471"} ! isolated hereditary congenital facial paralysis
property_value: exactMatch http://identifiers.org/omim/601471
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1832284

[Term]
id: MONDO:0024467
name: apocrine sweat gland disease
def: "A disease that involves the apocrine sweat gland." [MONDO:patterns/location]
synonym: "apocrine sweat gland disease" EXACT [MONDO:patterns/location]
synonym: "apocrine sweat gland disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of apocrine sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of apocrine sweat gland" EXACT []
synonym: "disorder of apocrine sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of apocrine sweat gland" RELATED [MONDO:patterns/location_top]
xref: ICD10:L75 {source="MONDO:equivalentTo"}
is_a: MONDO:0006615 ! sweat gland disease

[Term]
id: MONDO:0024468
name: anterior pituitary gland disease
def: "A disease that involves the adenohypophysis." [MONDO:patterns/location]
synonym: "adenohypophysis disease" EXACT [MONDO:patterns/location]
synonym: "adenohypophysis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of adenohypophysis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adenohypophysis" EXACT []
synonym: "disorder of adenohypophysis" EXACT [MONDO:patterns/location_top]
synonym: "disorder of adenohypophysis" RELATED [MONDO:patterns/location_top]
synonym: "disorder of anterior pituitary" EXACT []
synonym: "disorder of anterior pituitary gland" RELATED []
xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:51742006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003381 {source="MONDO:Redundant", source="linkedlifedata"} ! pituitary gland disease
property_value: exactMatch http://identifiers.org/snomedct/51742006

[Term]
id: MONDO:0024469
name: chondrogenic neoplasm
def: "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." [NCIT:C4755]
synonym: "cartilaginous neoplasm" EXACT [NCIT:C4755]
synonym: "cartilaginous tumor" EXACT [NCIT:C4755]
synonym: "chondrogenic neoplasm" EXACT [NCIT:C4755]
synonym: "chondrogenic tumor" EXACT [NCIT:C4755]
synonym: "chondromatous neoplasm" EXACT [NCIT:C4755]
synonym: "chondromatous tumor" EXACT [NCIT:C4755]
synonym: "neoplasm of cartilage" EXACT [NCIT:C4755]
synonym: "neoplasm of the cartilage" EXACT [NCIT:C4755]
synonym: "tumor of cartilage" EXACT [NCIT:C4755]
synonym: "tumor of the cartilage" EXACT [NCIT:C4755]
xref: NCIT:C4755 {source="MONDO:equivalentTo"}
xref: UMLS:C0476147 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo", source="NCIT:C4755"}
is_a: MONDO:0002616 {source="NCIT:C4755"} ! mesenchymal cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476147
property_value: exactMatch NCIT:C4755

[Term]
id: MONDO:0024470
name: benign chondrogenic neoplasm
def: "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." [NCIT:C8592]
synonym: "benign cartilaginous neoplasm" EXACT [NCIT:C8592]
synonym: "benign cartilaginous tumor" EXACT [NCIT:C8592]
synonym: "benign chondrogenic neoplasm" EXACT [NCIT:C8592]
synonym: "benign chondrogenic tumor" EXACT [NCIT:C8592]
synonym: "benign neoplasm of cartilage" EXACT [NCIT:C8592]
synonym: "benign neoplasm of the cartilage" EXACT [NCIT:C8592]
synonym: "benign tumor of cartilage" EXACT [NCIT:C8592]
synonym: "benign tumor of the cartilage" EXACT [NCIT:C8592]
synonym: "chondrogenic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: NCIT:C8592 {source="MONDO:equivalentTo"}
xref: SCTID:722690001 {source="MONDO:equivalentTo"}
xref: UMLS:C0852519 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8592"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0024469 {source="MONDO:Redundant", source="NCIT:C8592"} ! chondrogenic neoplasm
property_value: exactMatch http://identifiers.org/snomedct/722690001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0852519
property_value: exactMatch NCIT:C8592

[Term]
id: MONDO:0024471
name: non-inflammatory vasculopathy
subset: ordo_group_of_disorders
xref: Orphanet:496924 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="Orphanet:496924"} ! vascular disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0019048"} ! rare
property_value: exactMatch Orphanet:496924

[Term]
id: MONDO:0024472
name: boutonneuse fever
def: "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." [PMID:18760001]
subset: ordo_disease {source="Orphanet:83313"}
subset: ordo_etiological_subtype {source="Orphanet:101334"}
synonym: "African tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "boutonneuse disease" EXACT [DOID:14095, PMID:18760001]
synonym: "boutonneuse fever" EXACT [PMID:18760001]
synonym: "Conor and Bruch's disease" EXACT [DOID:14095, PMID:18760001]
synonym: "fievre boutonneuse" EXACT [PMID:18760001]
synonym: "Kenya fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Kenya tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "Kenyan tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "marseilles fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Mediterranean spotted fever" EXACT [DOID:14095, Orphanet:83313, PMID:18760001]
synonym: "Mediterranean tick fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Rickettsia conorii spotted fever" BROAD [DOID:14095, PMID:18760001]
synonym: "South African tick-bite fever" EXACT [DOID:14095]
synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001]
xref: DOID:14095 {source="MONDO:equivalentTo", source="EFO:0007179"}
xref: EFO:0007179 {source="MONDO:equivalentTo"}
xref: ICD10:A77.1 {source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="ORDO:101334/ntbt", source="ORDO:83313/ntbt"}
xref: ICD9:082.1 {source="DOID:14095"}
xref: MedDRA:10006045 {source="ORDO:83313/e", source="Orphanet:83313"}
xref: MESH:D001907 {source="ORDO:83313/e", source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313", source="MONDO:ontobio", source="EFO:0007179"}
xref: Orphanet:101334 {source="MONDO:equivalentTo"}
xref: Orphanet:83313 {source="MONDO:equivalentTo"}
xref: SCTID:186774005 {source="DOID:14095", source="MONDO:equivalentTo"}
xref: UMLS:C0006060 {source="ORDO:83313/e", source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313"}
is_a: MONDO:0005677 ! Rickettsia conorii infectious disease
property_value: closeMatch http://identifiers.org/snomedct/186778008
property_value: closeMatch http://identifiers.org/snomedct/186779000
property_value: closeMatch http://identifiers.org/snomedct/186780002
property_value: closeMatch http://identifiers.org/snomedct/414658000
property_value: closeMatch http://identifiers.org/snomedct/59742009
property_value: exactMatch DOID:14095
property_value: exactMatch http://identifiers.org/meddra/10006045
property_value: exactMatch http://identifiers.org/mesh/D001907
property_value: exactMatch http://identifiers.org/snomedct/186774005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006060
property_value: exactMatch Orphanet:101334
property_value: exactMatch Orphanet:83313

[Term]
id: MONDO:0024473
name: Astrakhan spotted fever
def: "An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia." [PMID:18760001]
xref: DOID:0050041 {source="MONDO:equivalentTo"}
is_a: MONDO:0005677 ! Rickettsia conorii infectious disease
property_value: exactMatch DOID:0050041

[Term]
id: MONDO:0024474
name: intraepithelial neoplasia
def: "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." [NCIT:C8366]
synonym: "epithelial dysplasia" EXACT [NCIT:C8366]
synonym: "intraepithelial neoplasia" EXACT [NCIT:C8366]
synonym: "intraepithelial neoplasm" EXACT [NCIT:C8366]
xref: NCIT:C8366 {source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="MONDOLEX:0024474", source="NCIT:C8366"} ! epithelial neoplasm
is_a: MONDO:0021074 {source="NCIT:C8366"} ! precancerous condition
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0878500
property_value: exactMatch NCIT:C8366

[Term]
id: MONDO:0024475
name: squamous cell intraepithelial neoplasia
synonym: "sil" BROAD [NCIT:C8334]
synonym: "SIN" BROAD [NCIT:C8334]
synonym: "squamous cell intraepithelial neoplasia" EXACT [NCIT:C8334]
synonym: "squamous intraepithelial lesion" EXACT [NCIT:C8334]
xref: NCIT:C8334 {source="MONDO:equivalentTo"}
is_a: MONDO:0002532 {source="NCIT:C8334"} ! squamous cell neoplasm
is_a: MONDO:0024474 {source="MONDO:Redundant", source="MONDOLEX:0024475", source="NCIT:C8334"} ! intraepithelial neoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0333873
property_value: exactMatch NCIT:C8334

[Term]
id: MONDO:0024476
name: epithelial neoplasm of rectum
def: "A epithelial neoplasm that involves the rectum." [MONDO:patterns/location]
synonym: "rectal epithelial neoplasm" EXACT []
synonym: "rectal epithelial tumor" EXACT []
synonym: "rectum epithelial neoplasm" EXACT [MONDO:patterns/location]
is_a: MONDO:0002165 ! rectal neoplasm
is_a: MONDO:0005626 ! epithelial neoplasm

[Term]
id: MONDO:0024477
name: liver and intrahepatic bile duct neoplasm
def: "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." [NCIT:C7103]
synonym: "hepatic and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103]
synonym: "liver and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103]
xref: NCIT:C7103 {source="MONDO:equivalentTo"}
xref: UMLS:C1333976 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C7103", source="MONDO:equivalentTo"}
is_a: MONDO:0002514 {source="NCIT:C7103"} ! hepatobiliary neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333976
property_value: exactMatch NCIT:C7103

[Term]
id: MONDO:0024478
name: mesenchymal hamartoma
synonym: "mesenchymal hamartoma" EXACT [NCIT:C40427]
xref: NCIT:C40427 {source="MONDO:equivalentTo"}
xref: UMLS:C0334090 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C40427", source="MONDO:equivalentTo"}
is_a: MONDO:0006499 {source="NCIT:C40427"} ! hamartoma (disease)
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334090
property_value: exactMatch NCIT:C40427

[Term]
id: MONDO:0024479
name: epithelial tumor of colon
def: "A epithelial neoplasm that involves the colon." [MONDO:patterns/location]
synonym: "colon epithelial neoplasm" EXACT [MONDO:patterns/location]
is_a: MONDO:0005401 ! colonic neoplasm
is_a: MONDO:0005626 ! epithelial neoplasm

[Term]
id: MONDO:0024480
name: dermatosis of eyelid
synonym: "dermatosis of eyelid" EXACT []
xref: SCTID:402700001 {source="MONDO:equivalentTo"}
xref: UMLS:C1274150 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003382 {source="linkedlifedata"} ! eyelid disease
property_value: exactMatch http://identifiers.org/snomedct/402700001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274150

[Term]
id: MONDO:0024481
name: skin appendage disease
def: "A disease that involves the cutaneous appendage." [MONDO:patterns/location]
synonym: "cutaneous appendage disease" EXACT [MONDO:patterns/location]
synonym: "cutaneous appendage disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cutaneous appendage" EXACT [MONDO:patterns/location_top]
synonym: "disease of epidermal appendage" RELATED []
synonym: "disease of epidermal appendages" RELATED []
synonym: "disease or disorder of cutaneous appendage" EXACT []
synonym: "disorder of cutaneous appendage" EXACT [MONDO:patterns/location_top]
synonym: "disorder of cutaneous appendage" RELATED [MONDO:patterns/location_top]
synonym: "disorder of skin appendage" EXACT []
xref: SCTID:238714008 {source="MONDO:equivalentTo"}
xref: UMLS:C0037272 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002051 ! integumentary system disease
property_value: exactMatch http://identifiers.org/snomedct/238714008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037272

[Term]
id: MONDO:0024482
name: eccrine sweat gland hamartoma
def: "A hamartoma characterized by localized eccrine sweat gland malformation." [NCIT:C5564]
synonym: "eccrine sweat gland hamartoma" EXACT [NCIT:C5564]
synonym: "eccrine sweat gland hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "hamartoma of eccrine sweat gland" EXACT [NCIT:C5564]
synonym: "hamartoma of the eccrine sweat gland" EXACT [NCIT:C5564]
xref: NCIT:C5564 {source="MONDO:equivalentTo"}
xref: UMLS:C1333372 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5564"}
is_a: MONDO:0002090 ! eccrine sweat gland neoplasm
is_a: MONDO:0021539 {source="MONDO:Redundant", source="NCIT:C5564"} ! hamartoma of skin appendage
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333372
property_value: exactMatch NCIT:C5564

[Term]
id: MONDO:0024483
name: urothelial hyperplasia
def: "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" [NCIT:C27877]
synonym: "urothelial hyperplasia" EXACT [NCIT:C27877]
synonym: "urothelium hyperplasia" EXACT [MONDO:patterns/location]
xref: NCIT:C27877 {source="MONDO:equivalentTo"}
is_a: MONDO:0002118 ! urinary system disease
is_a: MONDO:0005043 {source="MONDO:Redundant", source="NCIT:C27877"} ! hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336895
property_value: exactMatch NCIT:C27877

[Term]
id: MONDO:0024485
name: papillary urothelial hyperplasia
def: "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003" [NCIT:C27879]
synonym: "papillary urothelial hyperplasia" EXACT [NCIT:C27879]
xref: NCIT:C27879 {source="MONDO:equivalentTo"}
is_a: MONDO:0024483 {source="MONDOLEX:0024485", source="NCIT:C27879"} ! urothelial hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335328
property_value: exactMatch NCIT:C27879

[Term]
id: MONDO:0024486
name: obsolete familial chronic mucocutaneous candidiasis
is_obsolete: true
replaced_by: MONDO:0015279

[Term]
id: MONDO:0024487
name: nail infection
def: "An infectious process affecting the nail." [NCIT:C78493]
synonym: "nail infection" EXACT [NCIT:C78493]
xref: NCIT:C78493 {source="MONDO:equivalentTo"}
xref: UMLS:C0343026 {source="NCIT:C78493", source="MONDO:equivalentTo"}
is_a: MONDO:0002884 ! nail disease
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343026
property_value: exactMatch NCIT:C78493

[Term]
id: MONDO:0024488
name: tumor grading characteristic
def: "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" [https://www.cancer.gov/about-cancer/diagnosis-staging/prognosis/tumor-grade-fact-sheet]
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0024489
name: general tumor grading characteristic
def: "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." [NCIT:C28076]
synonym: "disease grade qualifier" EXACT [NCIT:C28076]
xref: NCIT:C28076 {source="MONDO:equivalentTo"}
is_a: MONDO:0024488 ! tumor grading characteristic
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1511980
property_value: exactMatch NCIT:C28076

[Term]
id: MONDO:0024490
name: tumor grade X, general grading system
synonym: "undetermined grade" EXACT []
is_a: MONDO:0024489 ! general tumor grading characteristic

[Term]
id: MONDO:0024491
name: tumor grade 1, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is well differentiated." [NCIT:C28077]
synonym: "G1" EXACT [NCIT:C28077]
synonym: "grade 1" EXACT [NCIT:C28077]
synonym: "grade I" EXACT [NCIT:C28077]
synonym: "low grade" EXACT []
synonym: "well differentiated" EXACT []
xref: LOINC:LA9629-2
xref: NCIT:C28077 {source="MONDO:equivalentTo"}
xref: UMLS:C0475269 {source="MONDO:equivalentTo"}
is_a: MONDO:0024495 ! tumor grade 1 or 2, general grading system
property_value: closeMatch http://identifiers.org/snomedct/54102005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0687695
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475269
property_value: exactMatch NCIT:C28077

[Term]
id: MONDO:0024492
name: tumor grade 2, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." [NCIT:C28078]
synonym: "G2" EXACT [NCIT:C28078]
synonym: "grade 2" EXACT [NCIT:C28078]
synonym: "grade II" EXACT [NCIT:C28078]
synonym: "intermediate grade" EXACT []
synonym: "moderately differentiated" EXACT []
xref: EFO:0005746 {source="MONDO:equivalentTo"}
xref: NCIT:C28078 {source="MONDO:equivalentTo"}
is_a: MONDO:0024495 ! tumor grade 1 or 2, general grading system
is_a: MONDO:0024496 ! tumor grade 2 or 3, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1522446
property_value: exactMatch NCIT:C28078

[Term]
id: MONDO:0024493
name: tumor grade 3, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." [NCIT:C28079]
synonym: "G3" EXACT [NCIT:C28079]
synonym: "grade 3" EXACT [NCIT:C28079]
synonym: "grade III" EXACT [NCIT:C28079]
synonym: "high grade" BROAD []
synonym: "poorly differentiated" EXACT []
xref: NCIT:C28079 {source="MONDO:equivalentTo"}
xref: UMLS:C0475271 {source="MONDO:equivalentTo"}
is_a: MONDO:0024496 ! tumor grade 2 or 3, general grading system
is_a: MONDO:0024497 ! tumor grade 3 or 4, general grading system
property_value: closeMatch http://identifiers.org/snomedct/61026006
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0450094
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475271
property_value: exactMatch NCIT:C28079

[Term]
id: MONDO:0024494
name: tumor grade 4, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." [NCIT:C28082]
synonym: "G4" EXACT [NCIT:C28082]
synonym: "grade 4" EXACT [NCIT:C28082]
synonym: "grade IV" EXACT [NCIT:C28082]
synonym: "high grade" BROAD []
synonym: "undifferentiated" EXACT []
xref: NCIT:C28082 {source="MONDO:equivalentTo"}
is_a: MONDO:0024497 ! tumor grade 3 or 4, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0547054
property_value: exactMatch NCIT:C28082

[Term]
id: MONDO:0024495
name: tumor grade 1 or 2, general grading system
synonym: "grade 1/2" EXACT [MONDO:cjm]
is_a: MONDO:0024489 ! general tumor grading characteristic
union_of: MONDO:0024491 ! tumor grade 1, general grading system
union_of: MONDO:0024492 ! tumor grade 2, general grading system

[Term]
id: MONDO:0024496
name: tumor grade 2 or 3, general grading system
def: "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." [NCIT:C94678]
synonym: "grade 2/3" EXACT [NCIT:C94678]
xref: NCIT:C94678 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="NCIT:C94678"} ! general tumor grading characteristic
union_of: MONDO:0024492 ! tumor grade 2, general grading system
union_of: MONDO:0024493 ! tumor grade 3, general grading system
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2986624
property_value: exactMatch NCIT:C94678

[Term]
id: MONDO:0024497
name: tumor grade 3 or 4, general grading system
def: "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." [NCIT:C14158]
synonym: "grade 3/4" EXACT [MONDO:cjm]
synonym: "high grade" EXACT [MONDO:cjm, NCIT:C14158]
xref: NCIT:C14158 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="NCIT:C14158/inferred"} ! general tumor grading characteristic
union_of: MONDO:0024493 ! tumor grade 3, general grading system
union_of: MONDO:0024494 ! tumor grade 4, general grading system
property_value: exactMatch NCIT:C14158

[Term]
id: MONDO:0024498
name: glioma susceptibility 1
subset: predisposition
synonym: "astrocytoma" RELATED [OMIM:137800]
synonym: "ependymoma" RELATED [OMIM:137800]
synonym: "glioblastoma multiforme" RELATED [OMIM:137800]
synonym: "glioma of brain, familial" RELATED [OMIM:137800]
synonym: "glioma susceptibility 1; GLM1" RELATED [OMIM:137800]
synonym: "GLM1" EXACT [OMIM:137800]
synonym: "oligodendroglioma" RELATED [OMIM:137800]
synonym: "subependymoma" RELATED [OMIM:137800]
xref: OMIM:137800 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:137800"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015917 ! malignant glioma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751396
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1842010
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750850
property_value: exactMatch http://identifiers.org/omim/137800

[Term]
id: MONDO:0024499
name: vascular bone neoplasm
def: "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." [NCIT:C6478]
synonym: "bone vascular neoplasm" EXACT [NCIT:C6478]
synonym: "bone vascular tumor" EXACT [NCIT:C6478]
synonym: "osseous vascular neoplasm" EXACT [NCIT:C6478]
synonym: "osseous vascular tumor" EXACT [NCIT:C6478]
synonym: "vascular bone neoplasm" EXACT [NCIT:C6478]
synonym: "vascular neoplasm of bone" EXACT [NCIT:C6478]
synonym: "vascular neoplasm of the bone" EXACT [NCIT:C6478]
synonym: "vascular tumor of bone" EXACT [NCIT:C6478]
synonym: "vascular tumor of the bone" EXACT [NCIT:C6478]
xref: NCIT:C6478 {source="MONDO:equivalentTo"}
xref: UMLS:C1336946 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6478"}
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0024296 {source="MONDO:Entailed", source="NCIT:C6478", source="indirect"} ! vascular neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336946
property_value: exactMatch NCIT:C6478

[Term]
id: MONDO:0024500
name: duodenal neuroendocrine neoplasm
def: "A neuroendocrine neoplasm that involves the duodenum." [MONDO:patterns/location]
synonym: "duodenum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "duodenum neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of duodenum" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
is_a: MONDO:0018510 ! small intestine neuroendocrine neoplasm
is_a: MONDO:0021375 ! tumor of duodenum

[Term]
id: MONDO:0024501
name: appendix neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C60709]
synonym: "appendix neuroendocrine neoplasm" EXACT [NCIT:C60709]
synonym: "neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: NCIT:C60709 {source="MONDO:equivalentTo"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C60709"} ! appendiceal neoplasm
is_a: MONDO:0002882 ! colon neuroendocrine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1879718
property_value: exactMatch NCIT:C60709

[Term]
id: MONDO:0024502
name: gallbladder neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C96917]
synonym: "gall bladder NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "gall bladder neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gallbladder neuroendocrine neoplasm" EXACT [NCIT:C96917]
synonym: "neuroendocrine neoplasm of gall bladder" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
xref: NCIT:C96917 {source="MONDO:equivalentTo"}
xref: UMLS:C3273115 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96917"}
is_a: MONDO:0019496 ! neuroendocrine neoplasm
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C96917"} ! gallbladder neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3273115
property_value: exactMatch NCIT:C96917

[Term]
id: MONDO:0024503
name: digestive system neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." [NCIT:C27721]
subset: gard_rare {source="GARD:0002437"}
subset: ordo_group_of_disorders {source="Orphanet:100092"}
synonym: "alimentary part of gastrointestinal system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "carcinoid tumor" RELATED [https://en.wikipedia.org/wiki/Neuroendocrine_tumor#Gastroenteropancreatic_neuroendocrine_tumors_(GEP-NET), PMID:24714698]
synonym: "carcinoid tumor of digestive system" EXACT [MONDO:cjm]
synonym: "digestive system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "digestive system neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C27721]
synonym: "digestive system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "digestive system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gastro-enteropancreatic neuroendocrine tumor" EXACT [MONDO:0023217]
synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092]
synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721]
synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721]
synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721]
synonym: "GEP tumors" RELATED [GARD:0002437]
synonym: "GEP-NEN" RELATED [Orphanet:100092]
synonym: "GEP-NET" RELATED [Orphanet:100092]
synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: GARD:0002437 {source="MONDO:equivalentTo"}
xref: MESH:C535650 {source="MONDO:equivalentTo"}
xref: NCIT:C27721 {source="MONDO:equivalentTo"}
xref: Orphanet:100092 {source="MONDO:equivalentTo"}
xref: UMLS:CN197371 {source="MONDO:equivalentTo"}
is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C27721", source="indirect"} ! neuroendocrine neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C27721", source="indirect"} ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333799
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2930967
property_value: exactMatch http://identifiers.org/mesh/C535650
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN197371
property_value: exactMatch NCIT:C27721
property_value: exactMatch Orphanet:100092
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor xsd:string {source="GARD:0002437"}

[Term]
id: MONDO:0024504
name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor
def: "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." [NCIT:C4446]
subset: ordo_disease
synonym: "carcinoid neoplasm of pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid neoplasm of the pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid tumor of pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid tumor of the pancreas" EXACT [NCIT:C4446]
synonym: "EC cell, serotonin producing pancreatic NET" EXACT [NCIT:C4446]
synonym: "EC cell, serotonin producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446]
synonym: "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446]
synonym: "pancreatic carcinoid tumor" EXACT [NCIT:C4446]
synonym: "pancreatic serotonin producing neoplasm" EXACT [NCIT:C4446]
synonym: "pancreatic serotonin producing tumor" EXACT [NCIT:C4446]
synonym: "serotonin-producing neuroendocrine tumor of pancreas" RELATED [Orphanet:506090]
synonym: "serotonin-producing pancreatic NET" EXACT [Orphanet:506090]
synonym: "serotonin-producing pancreatic neuroendocrine tumor" EXACT [Orphanet:506090]
synonym: "serotonin-producing PNET" EXACT [Orphanet:506090]
synonym: "serotonin-producing tumor of pancreas" EXACT [NCIT:C4446]
synonym: "serotonin-producing tumor of the pancreas" EXACT [NCIT:C4446]
xref: NCIT:C4446 {source="MONDO:equivalentTo"}
xref: Orphanet:506090 {source="MONDO:equivalentTo"}
is_a: MONDO:0021535 {source="NCIT:C4446"} ! pancreatic neuroendocrine tumor G1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345933
property_value: exactMatch NCIT:C4446
property_value: exactMatch Orphanet:506090

[Term]
id: MONDO:0024505
name: disorder by anatomical region
def: "A broad grouping of diseases based on major body subdivisions." [MONDO:cjm]
subset: metaclass
synonym: "disease by body site" RELATED []
synonym: "disease of organism subdivision" RELATED [MONDO:patterns/location_top]
synonym: "disorder by body site" RELATED []
synonym: "disorder of anatomical" RELATED []
synonym: "disorder of organism subdivision" RELATED [MONDO:patterns/location_top]
xref: SCTID:123946008 {source="MONDO:equivalentTo"}
xref: UMLS:C1290853 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="linkedlifedata"} ! disease or disorder
property_value: exactMatch http://identifiers.org/snomedct/123946008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290853

[Term]
id: MONDO:0024506
name: Adams-Oliver syndrome 1
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "absence defect of limbs, scalp, and skull" RELATED [OMIM:100300]
synonym: "Adams-Oliver syndrome 1; AOS1" RELATED [OMIM:100300]
synonym: "Adams-Oliver syndrome caused by mutation in ARHGAP31" EXACT [MONDO:design_pattern]
synonym: "AOS" RELATED [OMIM:100300]
synonym: "AOS1" EXACT [OMIM:100300]
synonym: "aplasia cutis congenita with terminal transverse limb defects" RELATED [OMIM:100300]
synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" RELATED [OMIM:100300]
synonym: "ARHGAP31 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital scalp defects with distal limb reduction anomalies" RELATED [OMIM:100300]
xref: OMIM:100300 {source="MONDO:equivalentTo"}
xref: UMLS:CN028867 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:100300"} ! Adams-Oliver syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970140
property_value: exactMatch http://identifiers.org/omim/100300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN028867

[Term]
id: MONDO:0024507
name: aniridia 1
synonym: "AN1" RELATED [OMIM:106210]
synonym: "aniridia 1; AN1" EXACT [OMIM:106210]
synonym: "aniridia II" RELATED [OMIM:106210]
synonym: "aniridia II, formerly" RELATED [OMIM:106210]
synonym: "cataract, congenital, with late-onset corneal dystrophy" RELATED [OMIM:106210]
xref: OMIM:106210 {source="MONDO:equivalentTo"}
xref: SCTID:253231007 {source="MONDO:equivalentTo"}
is_a: MONDO:0007119 {source="OMIM:106210"} ! isolated aniridia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344542
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3805349
property_value: exactMatch http://identifiers.org/omim/106210
property_value: exactMatch http://identifiers.org/snomedct/253231007

[Term]
id: MONDO:0024508
name: epilepsy, hot water, 1
synonym: "bathing epilepsy" RELATED [OMIM:613339]
synonym: "epilepsy, hot water, 1" EXACT [MONDO:Lexical, OMIM:613339]
synonym: "epilepsy, hot water, 1; HWE1" EXACT [OMIM:613339]
synonym: "HWE1" RELATED [MONDO:Lexical, OMIM:613339]
synonym: "water immersion epilepsy" RELATED [OMIM:613339]
xref: OMIM:613339 {source="MONDO:equivalentTo"}
is_a: MONDO:0013229 {source="MONDOLEX:0024508", source="OMIM:613339"} ! hot water reflex epilepsy
property_value: exactMatch http://identifiers.org/omim/613339

[Term]
id: MONDO:0024512
name: spondyloarthropathy, susceptibility to
subset: predisposition
synonym: "SPDA" EXACT [MONDO:cjm]
xref: OMIMPS:106300 {source="MONDO:equivalentTo"}
xref: UMLS:CN118840 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005095 ! spondyloarthropathy
relationship: predisposes_towards MONDO:0005095 ! spondyloarthropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN118840

[Term]
id: MONDO:0024516
name: familial acne inversa
def: "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "ACNINV" EXACT [MONDO:cjm]
synonym: "familial hidradenitis suppurativa" EXACT [MONDO:cjm]
synonym: "hereditary hidradenitis suppurativa" EXACT [MONDO:patterns/hereditary]
xref: OMIMPS:142690 {source="MONDO:equivalentTo"}
is_a: MONDO:0006559 {source="MONDO:Redundant", source="MONDOLEX:0024516"} ! hidradenitis suppurativa
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0006559 ! hidradenitis suppurativa
intersection_of: has_modifier MONDO:0021152 ! inherited

[Term]
id: MONDO:0024517
name: schwannomatosis 1
synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091]
synonym: "SCHWANNOMATOSIS 1; SWNTS1" RELATED [OMIM:162091]
synonym: "SWNTS1" EXACT [OMIM:162091]
xref: OMIM:162091 {source="MONDO:equivalentTo"}
xref: UMLS:C4048809 {source="MEDGEN:kboom-pr98-c99", source="OMIM:162091", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008075 {source="MONDOLEX:0024517", source="OMIM:162091"} ! neurofibromatosis type 3
property_value: exactMatch http://identifiers.org/omim/162091
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4048809

[Term]
id: MONDO:0024518
name: reactive thrombocytosis
def: "A thrombocytosis caused by an underlying condition, such as an infection." [https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315]
synonym: "secondary thrombocytosis" EXACT [https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315]
xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:234500001 {source="MONDO:equivalentTo"}
xref: UMLS:C0457506 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002249 {source="MONDO:cjm", source="linkedlifedata"} ! thrombocytosis disease
property_value: exactMatch http://identifiers.org/snomedct/234500001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0457506

[Term]
id: MONDO:0024519
name: renal hypodysplasia/aplasia 1
synonym: "hereditary renal aplasia" RELATED [OMIM:191830]
synonym: "renal adysplasia" RELATED [OMIM:191830]
synonym: "renal agenesis" RELATED [OMIM:191830]
synonym: "renal aplasia" RELATED [OMIM:191830]
synonym: "renal dysplasia, megalocystis, and sirenomelia" RELATED [GARD:0004791]
synonym: "renal hypodysplasia/aplasia 1; RHDA1" RELATED [OMIM:191830]
synonym: "RHDA1" EXACT [OMIM:191830]
synonym: "Selig Benacerraf Greene syndrome" RELATED [GARD:0004791]
xref: GARD:0004791 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:191830 {source="MONDO:equivalentTo"}
is_a: MONDO:0018470 {source="OMIM:191830"} ! renal agenesis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1619700
property_value: exactMatch http://identifiers.org/omim/191830

[Term]
id: MONDO:0024520
name: renal hypodysplasia/aplasia 3
synonym: "renal hypodysplasia/aplasia 3; RHDA3" EXACT [OMIM:617805]
synonym: "RHDA3" EXACT [OMIM:617805]
xref: EFO:0009137 {source="MONDO:equivalentTo"}
xref: OMIM:617805 {source="MONDO:equivalentTo"}
xref: UMLS:CN703737 {source="MONDO:equivalentTo"}
is_a: MONDO:0018470 {source="OMIM:617805"} ! renal agenesis (disease)
property_value: exactMatch http://identifiers.org/omim/617805
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN703737

[Term]
id: MONDO:0024521
name: aortic aneurysm, familial abdominal, 1
synonym: "AAA1" EXACT [OMIM:100070]
synonym: "abdominal aortic aneurysm" RELATED [OMIM:100070]
synonym: "aneurysm, abdominal aortic" RELATED [OMIM:100070]
synonym: "aortic aneurysm, familial abdominal, 1; AAA1" EXACT [OMIM:100070]
xref: OMIM:100070 {source="MONDO:equivalentTo"}
is_a: MONDO:0007031 {source="MONDOLEX:0024521", source="OMIM:100070"} ! familial abdominal aortic aneurysm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1853365
property_value: exactMatch http://identifiers.org/omim/100070

[Term]
id: MONDO:0024522
name: amyloidosis, primary localized cutaneous, 1
def: "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "amyloidosis 9" RELATED [OMIM:105250]
synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250]
synonym: "amyloidosis, primary cutaneous, 1" EXACT [OMIM:105250]
synonym: "amyloidosis, primary localized cutaneous, 1; PLCA1" EXACT [OMIM:105250]
synonym: "lichen amyloidosis, familial" RELATED [OMIM:105250]
synonym: "OSMR primary cutaneous amyloidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PCA" RELATED [OMIM:105250]
synonym: "PLCA1" EXACT [OMIM:105250]
synonym: "primary cutaneous amyloidosis caused by mutation in OSMR" EXACT [MONDO:design_pattern]
xref: OMIM:105250 {source="MONDO:equivalentTo"}
xref: UMLS:C0268398 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105250"}
is_a: MONDO:0007101 {source="MONDOLEX:0024522"} ! familial primary localized cutaneous amyloidosis
property_value: exactMatch http://identifiers.org/omim/105250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268398

[Term]
id: MONDO:0024523
name: aortic valve disease 1
def: "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "aortic stenosis, calcific" RELATED [OMIM:109730]
synonym: "aortic valve disease" RELATED [OMIM:109730]
synonym: "aortic valve disease 1; AOVD1" EXACT [OMIM:109730]
synonym: "aortic valve disease caused by mutation in NOTCH1" EXACT []
synonym: "aortic valve disease caused by mutation in Notch1" EXACT [MONDO:design_pattern]
synonym: "aortic valve, bicuspid" RELATED [OMIM:109730]
synonym: "aortic valve, calcification of" RELATED [OMIM:109730]
synonym: "AOVD1" RELATED [OMIM:109730]
synonym: "bicuspid aortic valve" RELATED [OMIM:109730]
synonym: "NOTCH1 aortic valve disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Notch1 aortic valve disease" EXACT [MONDO:design_pattern]
xref: DOID:0080333 {source="MONDO:equivalentTo"}
xref: OMIM:109730 {source="MONDO:equivalentTo", source="DOID:0080333"}
xref: UMLS:C3887892 {source="OMIM:109730", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007194 {source="MONDOLEX:0024523"} ! familial bicuspid aortic valve
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149630
property_value: exactMatch DOID:0080333
property_value: exactMatch http://identifiers.org/omim/109730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887892

[Term]
id: MONDO:0024524
name: dyschromatosis universalis hereditaria 1
synonym: "DUH1" RELATED [MESH:C567273, OMIM:127500]
synonym: "dyschromatosis universalis hereditaria 1; DUH1" EXACT [OMIM:127500]
xref: MESH:C567273 {source="MONDO:equivalentTo"}
xref: OMIM:127500 {source="MONDO:equivalentTo"}
xref: UMLS:C2675711 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127500"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:127500"} ! dyschromatosis universalis hereditaria
relationship: excluded_subClassOf MONDO:0006600 {source="MESH:C567273"} ! pigmentation disease
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:C567273"} ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/C567273
property_value: exactMatch http://identifiers.org/omim/127500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2675711

[Term]
id: MONDO:0024525
name: FRTS1
synonym: "adult Fanconi syndrome" RELATED [OMIM:134600]
synonym: "Fanconi renotubular syndrome" RELATED [OMIM:134600]
synonym: "Fanconi renotubular syndrome 1; FRTS1" EXACT [OMIM:134600]
synonym: "Fanconi syndrome without cystinosis" RELATED [OMIM:134600]
synonym: "FRTS1" EXACT [OMIM:134600]
synonym: "Luder-Sheldon syndrome" RELATED [OMIM:134600]
synonym: "renal Fanconi syndrome" RELATED [OMIM:134600]
xref: OMIM:134600 {source="MONDO:equivalentTo"}
is_a: MONDO:0007600 {source="MONDOLEX:0024525"} ! primary Fanconi syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0341703
property_value: exactMatch http://identifiers.org/omim/134600

[Term]
id: MONDO:0024526
name: Zimmermann-Laband syndrome 1
def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [OMIM:135500]
synonym: "KCNH1 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Laband syndrome" RELATED [OMIM:135500]
synonym: "Zimmermann-Laband syndrome 1; ZLS1" RELATED [OMIM:135500]
synonym: "Zimmermann-Laband syndrome caused by mutation in KCNH1" EXACT [MONDO:design_pattern]
synonym: "ZLS1" EXACT [OMIM:135500]
xref: OMIM:135500 {source="MONDO:equivalentTo"}
xref: UMLS:CN032818 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:135500"} ! Zimmermann-Laband syndrome
property_value: exactMatch http://identifiers.org/omim/135500
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN032818

[Term]
id: MONDO:0024527
name: glomerulopathy with fibronectin deposits 1
synonym: "GFND1" EXACT [OMIM:137950]
synonym: "glomerulopathy with fibronectin deposits 1; GFND1" EXACT [OMIM:137950]
synonym: "glomerulopathy with giant fibrillar deposits" RELATED [OMIM:137950]
synonym: "lobular glomerulopathy, familial" RELATED [OMIM:137950]
xref: OMIM:137950 {source="MONDO:equivalentTo"}
is_a: MONDO:0007671 {source="OMIM:137950"} ! fibronectin glomerulopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0403557
property_value: exactMatch http://identifiers.org/omim/137950

[Term]
id: MONDO:0024528
name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1
def: "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern]
synonym: "PEOA1" EXACT [OMIM:157640]
synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; PEOA1" EXACT [OMIM:157640]
synonym: "progressive external ophthalmoplegia, autosomal dominant 1" EXACT [OMIM:157640]
xref: OMIM:157640 {source="MONDO:equivalentTo"}
xref: UMLS:C1834846 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:157640"}
is_a: MONDO:0008003 {source="MONDO:Redundant", source="MONDOLEX:0024528"} ! autosomal dominant progressive external ophthalmoplegia
property_value: exactMatch http://identifiers.org/omim/157640
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834846

[Term]
id: MONDO:0024529
name: MVP1
synonym: "barlow syndrome" RELATED [OMIM:157700]
synonym: "click-murmur syndrome" RELATED [OMIM:157700]
synonym: "floppy mitral valve" RELATED [OMIM:157700]
synonym: "mitral regurgitation, familial" RELATED [OMIM:157700]
synonym: "mitral valve prolapse 1; MVP1" RELATED [OMIM:157700]
synonym: "mitral valve prolapse, familial" RELATED [OMIM:157700]
synonym: "mitral valve prolapse, familial, X-linked" RELATED [GARD:0003688]
synonym: "mitral valve prolapse, myxomatous 1" RELATED [OMIM:157700]
synonym: "MVP1" EXACT [OMIM:157700]
synonym: "myxomatous mitral valve prolapse 1" RELATED [OMIM:157700]
synonym: "myxomatous valvular disease, familial" RELATED [OMIM:157700]
synonym: "PMV" RELATED [GARD:0003688]
synonym: "prolapsed mitral valve" RELATED [GARD:0003688]
xref: GARD:0003688 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: OMIM:157700 {source="MONDO:equivalentTo"}
xref: UMLS:CN074267 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008004 {source="MONDOLEX:0024529"} ! familial mitral valve prolapse
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026267
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834819
property_value: exactMatch http://identifiers.org/omim/157700
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074267

[Term]
id: MONDO:0024530
name: Bethlem myopathy 1
synonym: "Bethlem myopathy" RELATED [OMIM:158810]
synonym: "Bethlem myopathy 1; BTHLM1" RELATED [OMIM:158810]
synonym: "BTHLM1" RELATED [OMIM:158810]
synonym: "muscular dystrophy, benign congenital" RELATED [OMIM:158810]
synonym: "myopathy, benign congenital, with contractures" RELATED [OMIM:158810]
xref: OMIM:158810 {source="MONDO:equivalentTo"}
xref: UMLS:CN029274 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008029 {source="MONDOLEX:0024530", source="OMIM:158810"} ! Bethlem myopathy
property_value: exactMatch http://identifiers.org/omim/158810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029274

[Term]
id: MONDO:0024531
name: myopathy, tubular aggregate, 1
def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, tubular aggregate" RELATED [OMIM:160565]
synonym: "myopathy, tubular aggregate, 1; TAM1" RELATED [OMIM:160565]
synonym: "STIM1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TAM1" RELATED [OMIM:160565]
synonym: "tubular aggregate myopathy" RELATED [OMIM:160565]
synonym: "tubular aggregate myopathy caused by mutation in STIM1" EXACT [MONDO:design_pattern]
xref: OMIM:160565 {source="MONDO:equivalentTo"}
xref: UMLS:C4011726 {source="OMIM:160565", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:160565"} ! tubular aggregate myopathy
property_value: exactMatch http://identifiers.org/omim/160565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410207
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4011726

[Term]
id: MONDO:0024532
name: otofaciocervical syndrome 1
def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:design_pattern]
synonym: "EYA1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC" BROAD [OMIM:166780]
synonym: "OFC1" RELATED [OMIM:166780]
synonym: "OTFCS" BROAD [OMIM:166780]
synonym: "otofaciocervical syndrome 1; OTFCS" RELATED [OMIM:166780]
synonym: "otofaciocervical syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern]
xref: OMIM:166780 {source="MONDO:equivalentTo"}
xref: UMLS:C3714941 {source="MEDGEN:kboom-pr98-c99", source="OMIM:166780", source="MONDO:equivalentTo"}
xref: UMLS:CN034490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:166780"} ! otofaciocervical syndrome
property_value: exactMatch http://identifiers.org/omim/166780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034490

[Term]
id: MONDO:0024533
name: pulmonary hypertension, primary, 1
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BMPR2 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHT" RELATED [OMIM:178600]
synonym: "PPH1" RELATED [OMIM:178600]
synonym: "Pph1 with Hht" RELATED [OMIM:178600]
synonym: "primary pulmonary hypertension caused by mutation in BMPR2" EXACT [MONDO:design_pattern]
synonym: "pulmonary arterial hypertension" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, 1; PPH1" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, Dexfenfluramine-associated" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, Fenfluramine-associated" RELATED [OMIM:178600]
xref: OMIM:178600 {source="MONDO:equivalentTo"}
is_a: MONDO:0008347 {source="MONDOLEX:0024533"} ! idiopathic and/or familial pulmonary arterial hypertension
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969342
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969343
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714844
property_value: exactMatch http://identifiers.org/omim/178600

[Term]
id: MONDO:0024534
name: Dowling-Degos disease 1
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DDD" RELATED [OMIM:179850]
synonym: "DDD1" RELATED [OMIM:179850]
synonym: "Dowling-Degos disease 1; DDD1" RELATED [OMIM:179850]
synonym: "Dowling-Degos disease caused by mutation in KRT5" EXACT [MONDO:design_pattern]
synonym: "KRT5 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "reticular pigment anomaly of flexures" RELATED [OMIM:179850]
xref: OMIM:179850 {source="MONDO:equivalentTo"}
xref: UMLS:C3714534 {source="DOID:0060256", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179850", source="Orphanet:79145"}
is_a: MONDO:0008371 {source="MONDO:Redundant"} ! Dowling-Degos disease
property_value: exactMatch http://identifiers.org/omim/179850
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714534

[Term]
id: MONDO:0024535
name: Singleton-Merten syndrome 1
def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IFIH1 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGMRT1" RELATED [OMIM:182250]
synonym: "singleton-Merten dysplasia caused by mutation in IFIH1" EXACT [MONDO:design_pattern]
synonym: "singleton-Merten syndrome 1; SGMRT1" RELATED [OMIM:182250]
xref: OMIM:182250 {source="MONDO:equivalentTo"}
xref: UMLS:C4225427 {source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182250"}
is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:182250"} ! singleton-Merten dysplasia
property_value: exactMatch http://identifiers.org/omim/182250
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4225427

[Term]
id: MONDO:0024536
name: glucocorticoid deficiency 1
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ACTH resistance" RELATED [OMIM:202200]
synonym: "adrenal unresponsiveness to ACTH" RELATED [OMIM:202200]
synonym: "familial glucocorticoid deficiency 1" RELATED [OMIM:202200]
synonym: "familial glucocorticoid deficiency caused by mutation in MC2R" EXACT [MONDO:design_pattern]
synonym: "GCCD1" RELATED [OMIM:202200]
synonym: "glucocorticoid deficiency 1; GCCD1" RELATED [OMIM:202200]
synonym: "MC2R familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:202200 {source="MONDO:equivalentTo"}
xref: UMLS:C1859974 {source="OMIM:202200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:202200"} ! familial glucocorticoid deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4049650
property_value: exactMatch http://identifiers.org/omim/202200
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1859974

[Term]
id: MONDO:0024537
name: Brown-Vialetto-van Laere syndrome 1
def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1" RELATED [OMIM:211530]
synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" EXACT [MONDO:design_pattern]
synonym: "bulbar palsy, progressive, with sensorineural deafness" RELATED [OMIM:211530]
synonym: "BVVLS1" RELATED [OMIM:211530]
synonym: "pontobulbar palsy with deafness" RELATED [OMIM:211530]
synonym: "SLC52A3 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: NCIT:C133724 {source="MONDO:equivalentTo"}
xref: OMIM:211530 {source="MONDO:equivalentTo"}
xref: UMLS:CN029849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008891 {source="indirect"} ! riboflavin transporter deficiency
property_value: exactMatch http://identifiers.org/omim/211530
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN029849
property_value: exactMatch NCIT:C133724

[Term]
id: MONDO:0024538
name: basal ganglia calcification, idiopathic, 1
synonym: "basal ganglia calcification, idiopathic, 1; IBGC1" RELATED [OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, 3" RELATED [OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, 3, formerly" RELATED [OMIM:213600]
synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset" RELATED [OMIM:213600]
synonym: "Fahr disease, familial" RELATED [OMIM:213600]
synonym: "Fahr disease, familial, formerly" RELATED [OMIM:213600]
synonym: "ferrocalcinosis, cerebrovascular" RELATED [OMIM:213600]
synonym: "IBGC1" RELATED [OMIM:213600]
synonym: "striopallidodentate calcinosis, autosomal dominant, adult-onset" RELATED [OMIM:213600]
synonym: "striopallidodentate calcinosis, bilateral" RELATED [OMIM:213600]
xref: OMIM:213600 {source="MONDO:equivalentTo"}
xref: UMLS:C0393590 {source="ORDO:1980/e", source="Orphanet:1980", source="NCIT:C129973", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213600"}
is_a: MONDO:0008947 {source="OMIM:213600"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/omim/213600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393590

[Term]
id: MONDO:0024539
name: choroidal dystrophy, central areolar, 1
def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CACD1" RELATED [OMIM:215500]
synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "choroidal dystrophy, central areolar" RELATED [OMIM:215500]
synonym: "choroidal dystrophy, central areolar, 1; CACD1" RELATED [OMIM:215500]
synonym: "choroidal sclerosis" RELATED [OMIM:215500]
synonym: "GUCY2D central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:215500 {source="MONDO:equivalentTo"}
is_a: MONDO:0008982 {source="MONDO:Redundant", source="MONDOLEX:0024539", source="OMIM:215500"} ! central areolar choroidal dystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0344297
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1536451
property_value: exactMatch http://identifiers.org/omim/215500

[Term]
id: MONDO:0024540
name: Jervell and Lange-Nielsen syndrome 1
def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [OMIM:220400]
synonym: "deafness, congenital, and functional heart disease" RELATED [OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome 1; JLNS1" RELATED [OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "JLNS1" RELATED [OMIM:220400]
synonym: "KCNQ1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prolonged QT interval in Ekg and sudden death" RELATED [OMIM:220400]
synonym: "Surdo-Cardiac syndrome" RELATED [OMIM:220400]
xref: OMIM:220400 {source="MONDO:equivalentTo"}
xref: UMLS:CN034131 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009078 {source="MONDO:Redundant", source="MONDOLEX:0024540", source="OMIM:220400"} ! Jervell and Lange-Nielsen syndrome
property_value: exactMatch http://identifiers.org/omim/220400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034131

[Term]
id: MONDO:0024541
name: trichohepatoenteric syndrome 1
def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "diarrhea, fatal infantile, with trichorrhexis nodosa" RELATED [OMIM:222470]
synonym: "diarrhea, syndromic" RELATED [OMIM:222470]
synonym: "The syndrome" RELATED [OMIM:222470]
synonym: "THES1" RELATED [OMIM:222470]
synonym: "tricho-hepato-enteric syndrome caused by mutation in TTC37" EXACT [MONDO:design_pattern]
synonym: "TRICHOHEPATOENTERIC syndrome 1; THES1" RELATED [OMIM:222470]
synonym: "TTC37 tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:222470 {source="MONDO:equivalentTo"}
xref: UMLS:CN034858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009105 {source="MONDO:Redundant", source="MONDOLEX:0024541", source="OMIM:222470"} ! tricho-hepato-enteric syndrome
property_value: exactMatch http://identifiers.org/omim/222470
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034858

[Term]
id: MONDO:0024542
name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ1" RELATED [MONDO:Lexical, OMIM:224050]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" RELATED [OMIM:224050]
synonym: "cerebellar ataxia, congenital, and mental retardation, autosomal recessive" RELATED [OMIM:224050]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; CAMRQ1" RELATED [OMIM:224050]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" EXACT [MONDORULE:1, OMIM:224050]
synonym: "cerebellar hypoplasia, VLDLR-associated" RELATED [OMIM:224050]
synonym: "dysequilibrium syndrome" RELATED [OMIM:224050]
synonym: "dysequilibrium syndrome caused by mutation in VLDLR" EXACT [MONDO:design_pattern]
synonym: "VLDLR dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:224050 {source="MONDO:equivalentTo"}
xref: UMLS:CN074243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:224050"} ! dysequilibrium syndrome
property_value: exactMatch http://identifiers.org/omim/224050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN074243

[Term]
id: MONDO:0024543
name: brittle cornea syndrome 1
def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCS1" RELATED [OMIM:229200]
synonym: "brittle cornea syndrome 1; BCS1" RELATED [OMIM:229200]
synonym: "brittle cornea syndrome caused by mutation in ZNF469" EXACT [MONDO:design_pattern]
synonym: "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility" RELATED [OMIM:229200]
synonym: "dysgenesis Mesodermalis corneae Et sclerae" RELATED [OMIM:229200]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:229200]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:229200]
synonym: "Fragilitas oculi with Joint hyperextensibility" RELATED [OMIM:229200]
synonym: "ZNF469 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:229200 {source="MONDO:equivalentTo"}
xref: SCTID:31798004 {source="MONDO:equivalentTo"}
is_a: MONDO:0009242 {source="MONDO:Redundant", source="MONDOLEX:0024543", source="OMIM:229200"} ! brittle cornea syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0268344
property_value: exactMatch http://identifiers.org/omim/229200
property_value: exactMatch http://identifiers.org/snomedct/31798004

[Term]
id: MONDO:0024544
name: Heimler syndrome 1
synonym: "hearing loss, sensorineural, with enamel hypoplasia and nail defects" RELATED [OMIM:234580]
synonym: "HEIMLER syndrome 1; HMLR1" RELATED [OMIM:234580]
synonym: "HMLR1" RELATED [OMIM:234580]
synonym: "peroxisome biogenesis disorder 1C" RELATED [OMIM:234580]
xref: OMIM:234580 {source="MONDO:equivalentTo"}
is_a: MONDO:0009325 ! deafness-enamel hypoplasia-nail defects syndrome
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019234 {source="MONDO:Redundant", source="OMIM:234580", source="indirect"} ! peroxisome biogenesis disorder
property_value: exactMatch http://identifiers.org/omim/234580

[Term]
id: MONDO:0024545
name: Miyoshi muscular dystrophy 1
def: "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DYSF Miyoshi myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MIYOSHI muscular dystrophy 1; MMD1" RELATED [OMIM:254130]
synonym: "Miyoshi myopathy" RELATED [OMIM:254130]
synonym: "Miyoshi myopathy caused by mutation in DYSF" EXACT [MONDO:design_pattern]
synonym: "MMD1" RELATED [OMIM:254130]
synonym: "muscular dystrophy, distal, late-onset, autosomal recessive" RELATED [OMIM:254130]
xref: DOID:0070199 {source="MONDO:equivalentTo"}
xref: OMIM:254130 {source="MONDO:equivalentTo"}
xref: UMLS:C1850808 {source="ORDO:45448/e", source="Orphanet:45448", source="NCBI:mim2gene_medline", source="OMIM:254130", source="MONDO:equivalentTo", source="NCIT:C118846"}
is_a: MONDO:0009685 {source="MONDO:Redundant"} ! Miyoshi myopathy
property_value: exactMatch DOID:0070199
property_value: exactMatch http://identifiers.org/omim/254130
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850808

[Term]
id: MONDO:0024546
name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1
def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100]
synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100]
synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100]
synonym: "HPGD primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1; PHOAR1" RELATED [OMIM:259100]
synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:259100]
synonym: "PDP, autosomal recessive" RELATED [OMIM:259100]
synonym: "Pho, autosomal recessive" RELATED [OMIM:259100]
synonym: "PHOAR1" RELATED [OMIM:259100]
synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern]
synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100]
xref: OMIM:259100 {source="MONDO:equivalentTo"}
is_a: MONDO:0009799 {source="MONDOLEX:0024546"} ! pachydermoperiostosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678439
property_value: exactMatch http://identifiers.org/omim/259100

[Term]
id: MONDO:0024547
name: pancreatic agenesis 1
def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." [MONDO:design_pattern]
synonym: "Pagen" RELATED [OMIM:260370]
synonym: "PAGEN1" RELATED [OMIM:260370]
synonym: "pancreatic agenesis 1; PAGEN1" RELATED [OMIM:260370]
synonym: "pancreatic agenesis caused by mutation in PDX1" EXACT [MONDO:design_pattern]
synonym: "pancreatic hypoplasia, congenital" RELATED [OMIM:260370]
synonym: "PDX1 pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:260370 {source="MONDO:equivalentTo"}
xref: UMLS:C3891828 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:260370"}
is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:260370"} ! pancreatic agenesis
property_value: exactMatch http://identifiers.org/omim/260370
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3891828

[Term]
id: MONDO:0024548
name: peeling skin syndrome 1
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deciduous skin" RELATED [OMIM:270300]
synonym: "keratolysis exfoliativa congenita" RELATED [OMIM:270300]
synonym: "peeling skin syndrome 1; PSS1" RELATED [OMIM:270300]
synonym: "peeling skin syndrome caused by mutation in CDSN" EXACT [MONDO:design_pattern]
synonym: "PSS" RELATED [OMIM:270300]
synonym: "PSS1" RELATED [OMIM:270300]
synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300]
xref: OMIM:270300 {source="MONDO:equivalentTo"}
xref: UMLS:C3891449 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:270300"}
is_a: MONDO:0010033 {source="MONDOLEX:0024548"} ! generalized peeling skin syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849193
property_value: exactMatch http://identifiers.org/omim/270300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3891449

[Term]
id: MONDO:0024549
name: MCOPCB1
synonym: "MCOPCB1" EXACT [OMIM:300345]
synonym: "microphthalmia, colobomatous, isolated 1" RELATED [OMIM:300345]
synonym: "microphthalmia, isolated, with coloboma 1; MCOPCB1" RELATED [OMIM:300345]
xref: OMIM:300345 {source="MONDO:equivalentTo"}
is_a: MONDO:0010303 {source="MONDOLEX:0024549"} ! colobomatous microphthalmia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1845877
property_value: exactMatch http://identifiers.org/omim/300345

[Term]
id: MONDO:0024550
name: frontometaphyseal dysplasia 1
def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FLNA frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fmd" RELATED [OMIM:305620]
synonym: "FMD1" RELATED [OMIM:305620]
synonym: "FRONTOMETAPHYSEAL dysplasia 1; FMD1" RELATED [OMIM:305620]
synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:design_pattern]
xref: OMIM:305620 {source="MONDO:equivalentTo"}
is_a: MONDO:0015942 {source="MONDO:Redundant", source="OMIM:305620"} ! frontometaphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4281559
property_value: exactMatch http://identifiers.org/omim/305620
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265293

[Term]
id: MONDO:0024551
name: X-linked lymphoproliferative disease due to SH2D1A deficiency
def: "gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." [Orphanet:538931]
subset: ordo_disease
synonym: "Duncan disease" RELATED [OMIM:308240]
synonym: "EBV infection, Severe, susceptibility to" RELATED [OMIM:308240]
synonym: "Epstein-Barr Virus infection, familial fatal" RELATED [OMIM:308240]
synonym: "immunodeficiency 5" RELATED [OMIM:308240]
synonym: "immunodeficiency, X-linked progressive combined variable" RELATED [OMIM:308240]
synonym: "infectious mononucleosis, Severe, susceptibility to" RELATED [OMIM:308240]
synonym: "lymphoproliferative disease, X-linked" RELATED [OMIM:308240]
synonym: "lymphoproliferative syndrome, X-linked, 1; XLP1" RELATED [OMIM:308240]
synonym: "Lyp" RELATED [OMIM:308240]
synonym: "Purtilo syndrome" RELATED [OMIM:308240]
synonym: "Xlp" RELATED [OMIM:308240]
synonym: "XLP1" RELATED [OMIM:308240]
xref: OMIM:308240 {source="MONDO:equivalentTo", source="Orphanet:538931"}
xref: Orphanet:538931 {source="MONDO:equivalentTo"}
is_a: MONDO:0010627 {source="MONDOLEX:0024551", source="Orphanet:538931"} ! X-linked lymphoproliferative syndrome
is_a: MONDO:0020605 ! X-linked recessive disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868674
property_value: exactMatch http://identifiers.org/omim/308240
property_value: exactMatch Orphanet:538931

[Term]
id: MONDO:0024552
name: linear skin defects with multiple congenital anomalies 1
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: this is in two OMIMPSs, see notes on parent
synonym: "HCCS microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "linear skin defects with multiple congenital anomalies 1; LSDMCA1" RELATED [OMIM:309801]
synonym: "LSDMCA1" RELATED [OMIM:309801]
synonym: "microphthalmia with linear skin defects" RELATED [OMIM:309801]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in HCCS" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, dermal aplasia, and sclerocornea" RELATED [OMIM:309801]
synonym: "microphthalmia, syndromic 7" RELATED [OMIM:309801]
synonym: "Midas syndrome" RELATED [OMIM:309801]
xref: OMIM:309801 {source="MONDO:equivalentTo"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="MONDOLEX:0024552", source="OMIM:309801"} ! microphthalmia with linear skin defects syndrome
property_value: exactMatch http://identifiers.org/omim/309801
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796070

[Term]
id: MONDO:0024553
name: myopathy, lactic acidosis, and sideroblastic anemia 1
def: "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial myopathy and sideroblastic anemia" RELATED [OMIM:600462]
synonym: "MLASA1" RELATED [OMIM:600462]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1" RELATED [OMIM:600462]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1" EXACT [MONDO:design_pattern]
synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:600462 {source="MONDO:equivalentTo"}
xref: UMLS:C1838103 {source="OMIM:600462", source="ORDO:2598/e", source="NCBI:mim2gene_medline", source="Orphanet:2598", source="MONDO:equivalentTo"}
is_a: MONDO:0000863 {source="MONDO:0024553/inferred", source="MONDO:Redundant", source="MONDOLEX:0024553", source="MONDOLEX:0024553/inferred", source="OMIM:600462", source="indirect"} ! myopathy, lactic acidosis, and sideroblastic anemia
property_value: exactMatch http://identifiers.org/omim/600462
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1838103

[Term]
id: MONDO:0024554
name: D-2-hydroxyglutaric aciduria 1
def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." [MONDO:patterns/disease_series_by_gene]
synonym: "D-2-hydroxyglutaric aciduria 1; D2HGA1" RELATED [OMIM:600721]
synonym: "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH" EXACT [MONDO:design_pattern]
synonym: "D2HGA1" RELATED [OMIM:600721]
synonym: "D2HGDH D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:600721 {source="MONDO:equivalentTo"}
xref: UMLS:C3152055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600721"}
is_a: MONDO:0010924 {source="MONDO:Redundant", source="MONDOLEX:0024554", source="OMIM:600721"} ! D-2-hydroxyglutaric aciduria
property_value: exactMatch http://identifiers.org/omim/600721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3152055

[Term]
id: MONDO:0024555
name: megalencephalic leukoencephalopathy with subcortical cysts 1
synonym: "leukoencephalopathy with swelling and cysts" RELATED [OMIM:604004]
synonym: "Lvm" RELATED [OMIM:604004]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1; MLC1" RELATED [OMIM:604004]
synonym: "MLC1" RELATED [OMIM:604004]
synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" RELATED [OMIM:604004]
synonym: "Van Der Knaap disease" RELATED [OMIM:604004]
synonym: "VL" RELATED [OMIM:604004]
xref: DOID:0080316 {source="MONDO:equivalentTo"}
xref: OMIM:604004 {source="MONDO:equivalentTo"}
is_a: MONDO:0011391 {source="MONDOLEX:0024555"} ! megalencephalic leukoencephalopathy with subcortical cysts
property_value: exactMatch DOID:0080316
property_value: exactMatch http://identifiers.org/omim/604004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858854

[Term]
id: MONDO:0024556
name: epilepsy, familial focal, with variable foci 1
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DEPDC5 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, familial focal, with variable foci" RELATED [OMIM:604364]
synonym: "epilepsy, familial focal, with variable foci 1; FFEVF1" RELATED [OMIM:604364]
synonym: "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5" EXACT [MONDO:design_pattern]
synonym: "epilepsy, partial, with variable foci" RELATED [OMIM:604364]
synonym: "FFEVF1" RELATED [OMIM:604364]
xref: OMIM:604364 {source="MONDO:equivalentTo"}
xref: UMLS:C1858477 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604364"}
is_a: MONDO:0020310 {source="MONDO:Redundant", source="MONDOLEX:0024556", source="OMIM:604364"} ! familial focal epilepsy with variable foci
property_value: exactMatch http://identifiers.org/omim/604364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858477

[Term]
id: MONDO:0024557
name: ataxia-telangiectasia-like disorder 1
def: "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ataxia - telangiectasia-like disorder caused by mutation in MRE11" EXACT []
synonym: "ataxia-telangiectasia-like disorder 1; ATLD1" RELATED [OMIM:604391]
synonym: "ataxia-telangiectasia-like disorder caused by mutation in MRE11" EXACT [MONDO:design_pattern]
synonym: "Atld" RELATED [OMIM:604391]
synonym: "ATLD1" RELATED [OMIM:604391]
synonym: "MRE11 ataxia - telangiectasia-like disorder" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MRE11 ataxia-telangiectasia-like disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:604391 {source="MONDO:equivalentTo"}
xref: UMLS:C1858391 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604391", source="Orphanet:251347"}
is_a: MONDO:0011457 {source="MONDO:Redundant", source="OMIM:604391"} ! ataxia - telangiectasia-like disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4012790
property_value: exactMatch http://identifiers.org/omim/604391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1858391

[Term]
id: MONDO:0024558
name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1
def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" EXACT [MONDO:design_pattern]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 1; RUSAT1" RELATED [OMIM:605432]
synonym: "Rusat" RELATED [OMIM:605432]
synonym: "RUSAT1" RELATED [OMIM:605432]
synonym: "thrombocytopenia, congenital, with radioulnar synostosis" RELATED [OMIM:605432]
xref: OMIM:605432 {source="MONDO:equivalentTo"}
is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:605432"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1854273
property_value: exactMatch http://identifiers.org/omim/605432

[Term]
id: MONDO:0024559
name: AAT1
synonym: "AAT1" EXACT [OMIM:607086]
synonym: "aneurysm, thoracic aortic" RELATED [OMIM:607086]
synonym: "annuloaortic ectasia" RELATED [OMIM:607086]
synonym: "aortic aneurysm, familial thoracic" RELATED [OMIM:607086]
synonym: "aortic aneurysm, familial thoracic 1; AAT1" RELATED [OMIM:607086]
synonym: "aortic dissection, familial" RELATED [OMIM:607086]
synonym: "Erdheim cystic medial necrosis of aorta" RELATED [OMIM:607086]
synonym: "FAA1" RELATED [OMIM:607086]
xref: OMIM:607086 {source="MONDO:equivalentTo"}
is_a: MONDO:0019625 {source="OMIM:607086"} ! familial thoracic aortic aneurysm and aortic dissection
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0345050
property_value: exactMatch http://identifiers.org/omim/607086

[Term]
id: MONDO:0024560
name: PDA1
synonym: "patent ductus arteriosus 1; PDA1" RELATED [OMIM:607411]
synonym: "PDA" RELATED [OMIM:607411]
synonym: "PDA1" EXACT [OMIM:607411]
xref: OMIM:607411 {source="MONDO:equivalentTo"}
is_a: MONDO:0011827 {source="OMIM:607411"} ! patent ductus arteriosus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4282128
property_value: exactMatch http://identifiers.org/omim/607411

[Term]
id: MONDO:0024561
name: vitelliform macular dystrophy 3
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "foveomacular dystrophy, adult-onset" RELATED [OMIM:608161]
synonym: "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" RELATED [OMIM:608161]
synonym: "macular dystrophy, vitelliform, 3; VMD3" RELATED [OMIM:608161]
synonym: "PRPH2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "vitelliform macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "vitelliform macular dystrophy, adult-onset" RELATED [OMIM:608161]
synonym: "VMD3" RELATED [OMIM:608161]
xref: OMIM:608161 {source="MONDO:equivalentTo"}
is_a: MONDO:0011979 {source="MONDOLEX:0024561"} ! adult-onset foveomacular vitelliform dystrophy
property_value: exactMatch http://identifiers.org/omim/608161

[Term]
id: MONDO:0024562
name: sick sinus syndrome 1
def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "SCN5A sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 1; SSS1" RELATED [OMIM:608567]
synonym: "sick sinus syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "sick sinus syndrome, congenital" RELATED [OMIM:608567]
synonym: "sinus bradycardia syndrome, familial" RELATED [OMIM:608567]
synonym: "sinus node disease, familial, autosomal recessive" RELATED [OMIM:608567]
synonym: "sinus rhythm, congenital absence of" RELATED [OMIM:608567]
synonym: "SSS1" RELATED [OMIM:608567]
xref: OMIM:608567 {source="MONDO:equivalentTo"}
is_a: MONDO:0012061 {source="MONDOLEX:0024562"} ! familial sick sinus syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837845
property_value: exactMatch http://identifiers.org/omim/608567

[Term]
id: MONDO:0024563
name: herpes simplex encephalitis, susceptibility to, 1
def: "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1" RELATED [OMIM:610551]
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1; IIAE1" RELATED [OMIM:610551]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 1" RELATED [OMIM:610551]
synonym: "herpes simplex encephalitis caused by mutation in UNC93B1" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 1" EXACT [OMIM:610551]
synonym: "IIAE1" RELATED [OMIM:610551]
synonym: "UNC93B1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:610551 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:610551", source="indirect"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0012521 {source="MONDO:Redundant", source="MONDOLEX:0024563"} ! herpes simplex encephalitis
is_a: MONDO:0020068 ! postinfectious encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2750180
property_value: exactMatch http://identifiers.org/omim/610551

[Term]
id: MONDO:0024564
name: cerebroretinal microangiopathy with calcifications and cysts 1
def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "cerebroretinal microangiopathy with calcifications and cysts 1; CRMCC1" RELATED [OMIM:612199]
synonym: "Coats plus syndrome" RELATED [OMIM:612199]
synonym: "Coats plus syndrome caused by mutation in CTC1" EXACT [MONDO:design_pattern]
synonym: "Crmcc" RELATED [OMIM:612199]
synonym: "CRMCC1" RELATED [OMIM:612199]
synonym: "CTC1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:612199 {source="MONDO:equivalentTo"}
is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:612199"} ! Coats plus syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677299
property_value: exactMatch http://identifiers.org/omim/612199

[Term]
id: MONDO:0024565
name: ectodermal dysplasia-syndactyly syndrome 1
def: "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ectodermal dysplasia-syndactyly syndrome 1; EDSS1" RELATED [OMIM:613573]
synonym: "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4" EXACT [MONDO:design_pattern]
synonym: "EDSS1" RELATED [OMIM:613573]
synonym: "NECTIN4 ectodermal dysplasia-syndactyly syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:613573 {source="MONDO:equivalentTo"}
xref: UMLS:C3150807 {source="OMIM:613573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0013311 {source="MONDO:Redundant", source="MONDOLEX:0024565", source="OMIM:613573"} ! ectodermal dysplasia-syndactyly syndrome
property_value: exactMatch http://identifiers.org/omim/613573
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3150807

[Term]
id: MONDO:0024566
name: febrile seizures, familial, 11
synonym: "convulsions, familial febrile, 11" RELATED [OMIM:614418]
synonym: "FEB11" RELATED [OMIM:614418]
synonym: "febrile seizures, familial, 11; FEB11" RELATED [OMIM:614418]
xref: OMIM:614418 {source="MONDO:equivalentTo"}
xref: UMLS:C3280734 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614418"}
is_a: MONDO:0013742 {source="MONDOLEX:0024566"} ! familial mesial temporal lobe epilepsy with febrile seizures
property_value: exactMatch http://identifiers.org/omim/614418
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3280734

[Term]
id: MONDO:0024567
name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1
def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 1; IHPRF1" RELATED [OMIM:615419]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" EXACT [MONDO:design_pattern]
synonym: "Ihprf" RELATED [OMIM:615419]
synonym: "IHPRF1" RELATED [OMIM:615419]
synonym: "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615419 {source="MONDO:equivalentTo"}
xref: UMLS:C3809454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615419"}
is_a: MONDO:0014176 {source="MONDO:Redundant", source="OMIM:615419"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
property_value: exactMatch http://identifiers.org/omim/615419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809454

[Term]
id: MONDO:0024568
name: infantile liver failure syndrome 1
alt_id: MONDO:0014188
def: "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." [MONDO:patterns/disease_series_by_gene]
subset: ordo_disease {source="Orphanet:370088"}
synonym: "acute infantile liver failure - multisystemic involvement syndrome" RELATED []
synonym: "ILFS1" RELATED [MONDO:Lexical, OMIM:615438]
synonym: "infantile liver failure caused by mutation in LARS" EXACT []
synonym: "infantile liver failure caused by mutation in Lars" EXACT [MONDO:design_pattern]
synonym: "infantile liver failure syndrome 1" EXACT [MONDO:Lexical, OMIM:615438]
synonym: "infantile liver failure syndrome 1; ILFS1" RELATED [OMIM:615438]
synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:615438]
synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern]
xref: GARD:0013114 {source="MONDO:equivalentTo", source="OMIM-shared"}
xref: ICD10:K72.0 {source="ORDO:370088/attributed", source="ORDO:370088/ntbt", source="Orphanet:370088"}
xref: OMIM:615438 {source="ORDO:370088/e", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="Orphanet:370088"}
xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"}
xref: UMLS:C3809522 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615438"}
is_a: MONDO:0000023 {source="DC-OMIM:615438", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure
property_value: exactMatch http://identifiers.org/omim/615438
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3809522
property_value: exactMatch Orphanet:370088

[Term]
id: MONDO:0024569
name: optic atrophy 8
synonym: "OPA8" EXACT [OMIM:616648]
synonym: "optic atrophy 8; OPA8" RELATED [OMIM:616648]
xref: OMIM:616648 {source="MONDO:equivalentTo"}
is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome
property_value: exactMatch http://identifiers.org/omim/616648

[Term]
id: MONDO:0024570
name: hyperparathyroidism 4
def: "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "familial isolated hyperparathyroidism caused by mutation in GCM2" EXACT [MONDO:design_pattern]
synonym: "GCM2 familial isolated hyperparathyroidism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HRPT4" RELATED [OMIM:617343]
synonym: "hyperparathyroidism 4; HRPT4" RELATED [OMIM:617343]
xref: OMIM:617343 {source="MONDO:equivalentTo"}
xref: UMLS:C4479229 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617343"}
xref: UMLS:CN240514 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0015027 {source="MONDO:Redundant"} ! familial isolated hyperparathyroidism
property_value: exactMatch http://identifiers.org/omim/617343
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479229
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN240514

[Term]
id: MONDO:0024571
name: AIDS-related disorder
def: "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." [NCIT:C4991]
synonym: "AIDS-related complications" EXACT [NCIT:C4991]
synonym: "AIDS-related disorder" EXACT [NCIT:C4991]
synonym: "AIDS/HIV - relatedDisease associated with AIDS" EXACT [NCIT:C4991]
synonym: "disease associated with AIDS" EXACT [NCIT:C4991]
xref: NCIT:C4991 {source="MONDO:equivalentTo"}
xref: UMLS:C0877121 {source="NCIT:C4991", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0021674 ! post-viral disorder
is_a: MONDO:0024572 {source="MONDO:Redundant", source="NCIT:C4991"} ! immunodeficiency-related disorder
intersection_of: MONDO:0024572 ! immunodeficiency-related disorder
intersection_of: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease
relationship: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877121
property_value: exactMatch NCIT:C4991

[Term]
id: MONDO:0024572
name: immunodeficiency-related disorder
def: "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." [NCIT:C35686]
synonym: "immunodeficiency-related disorder" EXACT [NCIT:C35686]
synonym: "Immunodepression-related disorder" EXACT [NCIT:C35686]
synonym: "Immunosuppression disorders" EXACT [NCIT:C35686]
synonym: "Immunosuppression-related disorder" EXACT [NCIT:C35686]
xref: NCIT:C35686 {source="MONDO:equivalentTo"}
xref: UMLS:C1334159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35686"}
is_a: MONDO:0005046 ! immune system disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334159
property_value: exactMatch NCIT:C35686

[Term]
id: MONDO:0024573
name: familial hypertrophic cardiomyopathy
def: "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." [NCIT:C84773]
synonym: "cardiomyopathy, familial hypertrophic" EXACT [OMIMPS:192600]
synonym: "familial hypertrophic cardiomyopathy" EXACT [NCIT:C84773]
synonym: "hereditary hypertrophic cardiomyopathy" EXACT [MONDO:patterns/hereditary]
synonym: "hypertrophic familial cardiomyopathy" EXACT [NCIT:C84773]
xref: DOID:0080326 {source="MONDO:equivalentTo"}
xref: GARD:0007229 {source="MONDO:equivalentTo"}
xref: MESH:D024741 {source="MONDO:equivalentTo"}
xref: NCIT:C84773 {source="MONDO:equivalentTo"}
xref: OMIMPS:192600 {source="MONDO:equivalentTo"}
xref: SCTID:471885006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005045 {source="MESH:D024741", source="MONDO:Redundant", source="NCIT:C84773", source="linkedlifedata"} ! hypertrophic cardiomyopathy
is_a: MONDO:0005217 ! familial cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch DOID:0080326
property_value: exactMatch http://identifiers.org/mesh/D024741
property_value: exactMatch http://identifiers.org/snomedct/471885006
property_value: exactMatch NCIT:C84773

[Term]
id: MONDO:0024574
name: von Willebrand disease (hereditary or acquired)
def: "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." [NCIT:C68677]
synonym: "von Willebrand disease" RELATED []
synonym: "von Willebrand disorder" EXACT [NCIT:C68677]
synonym: "von Willebrand's disease" EXACT [NCIT:C68677]
synonym: "VWD" EXACT []
xref: COHD:434316 {source="MONDO:equivalentTo"}
xref: ICD10:D68.0 {source="MONDO:equivalentTo"}
xref: ICD9:286.4 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D014842 {source="MONDO:equivalentTo"}
xref: NCIT:C68677 {source="MONDO:equivalentTo"}
xref: SCTID:128105004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002242 {source="MESH:D014842"} ! coagulation protein disease
property_value: exactMatch http://identifiers.org/mesh/D014842
property_value: exactMatch http://identifiers.org/snomedct/128105004
property_value: exactMatch NCIT:C68677

[Term]
id: MONDO:0024575
name: pregnancy disorder
def: "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." [NCIT:C35169]
synonym: "complication of pregnancy or childbirth" EXACT []
synonym: "complication, pregnancy" RELATED [MESH:D011248]
synonym: "Complications, pregnancy" RELATED [MESH:D011248]
synonym: "disorder of pregnancy" EXACT [NCIT:C35169]
synonym: "disorder of pregnancy, childbirth, or puerperium" EXACT []
synonym: "pregnancy complication" RELATED [MESH:D011248]
synonym: "pregnancy disease" EXACT []
synonym: "pregnancy disorder" EXACT [NCIT:C35169]
xref: MESH:D011248 {source="MONDO:equivalentTo"}
xref: NCIT:C35169 {source="MONDO:equivalentTo"}
xref: SCTID:173300003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652"} ! disease or disorder
relationship: excluded_subClassOf MONDO:0002263 {source="NCIT:C35169"} ! female reproductive system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0151864
property_value: exactMatch http://identifiers.org/mesh/D011248
property_value: exactMatch http://identifiers.org/snomedct/173300003
property_value: exactMatch NCIT:C35169

[Term]
id: MONDO:0024582
name: male reproductive system neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C3054]
synonym: "male reproductive organ neoplasm" EXACT []
synonym: "male reproductive organ tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Male reproductive system neoplasm" EXACT [NCIT:C3054]
synonym: "Male reproductive system tumor" EXACT [NCIT:C3054]
synonym: "neoplasm of male reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Male reproductive system" EXACT [NCIT:C3054]
synonym: "neoplasm of the Male reproductive system" EXACT [NCIT:C3054]
synonym: "tumor of male reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Male reproductive system" EXACT [NCIT:C3054]
synonym: "tumor of the Male reproductive system" EXACT [NCIT:C3054]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3054 {source="MONDO:equivalentTo"}
xref: SCTID:126895004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="MONDO:Redundant", source="NCIT:C3054", source="linkedlifedata/inferred"} ! male reproductive system disease
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3054"} ! reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017417
property_value: exactMatch http://identifiers.org/snomedct/126895004
property_value: exactMatch NCIT:C3054

[Term]
id: MONDO:0024583
name: obsolete hernia
def: "The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." [NCIT:C34685]
comment: Represents finding.
synonym: "enterocele" NARROW [MESH:D006547]
synonym: "hernias" RELATED [MESH:D006547]
xref: ICD10:K40.K46 {source="MONDO:equivalentTo"}
xref: MESH:D006547 {source="MONDO:equivalentObsolete"}
xref: NCIT:C34685 {source="MONDO:equivalentObsolete"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019270
property_value: exactMatch http://identifiers.org/mesh/D006547
property_value: exactMatch NCIT:C34685
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1777 xsd:string
is_obsolete: true
consider: HP:0100790

[Term]
id: MONDO:0024597
name: obsolete CD3epsilon deficiency
is_obsolete: true
replaced_by: MONDO:0014278

[Term]
id: MONDO:0024607
name: congenital muscular dystrophy with cataracts and intellectual disability
def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." [DOID:0080197]
synonym: "MDCCAID" RELATED [OMIM:617404]
synonym: "muscular dystrophy, congenital, with cataracts and intellectual disability" RELATED [OMIM:617404]
synonym: "muscular dystrophy, congenital, with cataracts and intellectual disability; MDCCAID" RELATED [OMIM:617404]
xref: DOID:0080197 {source="MONDO:equivalentTo"}
xref: EFO:0009149 {source="MONDO:equivalentTo"}
xref: OMIM:617404 {source="DOID:0080197", source="MONDO:equivalentTo"}
xref: UMLS:C4479410 {source="OMIM:617404", source="MONDO:equivalentTo"}
is_a: MONDO:0019950 {source="DOID:0080197", source="MONDOLEX:0024607"} ! congenital muscular dystrophy
property_value: exactMatch DOID:0080197
property_value: exactMatch http://identifiers.org/omim/617404
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479410

[Term]
id: MONDO:0024608
name: dientamoebiasis
def: "Gastrointestinal infection with organisms of the genus dientamoeba." [MESH:D004030]
synonym: "Dientamoeba caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dientamoeba disease or disorder" EXACT []
synonym: "Dientamoeba infectious disease" EXACT []
synonym: "Dientamoebiases" RELATED [MESH:D004030]
synonym: "intestinal trichomoniasis" EXACT [DOID:946]
xref: DOID:946 {source="MONDO:equivalentTo"}
xref: MESH:D004030 {source="MONDO:equivalentTo", source="DOID:946"}
xref: SCTID:67915005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="DOID:946", source="MESH:D004030"} ! protozoa infectious disease
is_a: MONDO:0024270 {source="MESH:D004030"} ! parasitic intestinal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0012147
property_value: exactMatch DOID:946
property_value: exactMatch http://identifiers.org/mesh/D004030
property_value: exactMatch http://identifiers.org/snomedct/67915005

[Term]
id: MONDO:0024609
name: vulvar squamous cell carcinoma
def: "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" [NCIT:C4052]
synonym: "epidermoid carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "epidermoid carcinoma of vulva" EXACT [NCIT:C4052]
synonym: "epidermoid cell carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "epidermoid cell carcinoma of vulva" EXACT [NCIT:C4052]
synonym: "mammalian vulva squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "squamous cell carcinoma of vulva" EXACT [DOID:2101, NCIT:C4052]
synonym: "vulva epidermoid carcinoma" EXACT [NCIT:C4052]
synonym: "vulva epidermoid cell carcinoma" EXACT [NCIT:C4052]
synonym: "vulva squamous cell carcinoma" EXACT [MONDO:0002210, NCIT:C4052]
synonym: "vulvar epidermoid carcinoma" EXACT [DOID:2101, NCIT:C4052]
synonym: "vulvar epidermoid cell carcinoma" EXACT [NCIT:C4052]
synonym: "vulvar squamous cell cancer" EXACT [NCIT:C4052]
synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052]
xref: DOID:2101 {source="MONDO:equivalentTo"}
xref: EFO:1000624 {source="MONDO:equivalentTo"}
xref: NCIT:C4052 {source="DOID:2101", source="MONDO:equivalentTo", source="EFO:1000624"}
xref: Orphanet:494448 {source="MONDO:equivalentTo"}
xref: SCTID:254895003 {source="DOID:2101", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.77"}
xref: UMLS:C0280856 {source="NCIT:C4052", source="DOID:2101", source="MONDO:equivalentTo"}
is_a: MONDO:0002195 {source="MONDO:Redundant", source="NCIT:C4052"} ! vulvar squamous neoplasm
is_a: MONDO:0005096 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="MONDOLEX:0024609", source="NCIT:C4052", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma
is_a: MONDO:0005215 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="MONDOLEX:0024609", source="NCIT:C4052", source="Orphanet:494448"} ! vulvar carcinoma
property_value: exactMatch DOID:2101
property_value: exactMatch http://identifiers.org/snomedct/254895003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280856
property_value: exactMatch NCIT:C4052
property_value: exactMatch Orphanet:494448

[Term]
id: MONDO:0024610
name: parasitic skin disease
def: "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." [MESH:D012876]
synonym: "disease, parasitic skin" RELATED [MESH:D012876]
synonym: "diseases, parasitic skin" RELATED [MESH:D012876]
synonym: "parasitic skin disease" EXACT [MESH:D012876]
synonym: "parasitic skin diseases" RELATED [MESH:D012876]
synonym: "skin disease, parasitic" RELATED [MESH:D012876]
xref: MESH:D012876 {source="MONDO:equivalentTo"}
xref: UMLS:C0037280 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="MESH:D012876", source="MONDO:Redundant", source="MONDOLEX:0024610"} ! parasitic infection
is_a: MONDO:0024294 {source="MESH:D012876", source="MONDO:Redundant"} ! skin disease caused by infection
property_value: exactMatch http://identifiers.org/mesh/D012876
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037280

[Term]
id: MONDO:0024611
name: orbit neoplasm
def: "A benign or malignant neoplasm that affects the orbit." [NCIT:C3290]
synonym: "neoplasm of orbit" EXACT [NCIT:C3290]
synonym: "neoplasm of orbit of skull" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the orbit" EXACT [NCIT:C3290]
synonym: "orbit neoplasm" EXACT [NCIT:C3290]
synonym: "orbit of skull neoplasm" EXACT []
synonym: "orbit of skull tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "orbit tumor" EXACT [NCIT:C3290]
synonym: "orbital neoplasm" EXACT [NCIT:C3290]
synonym: "orbital neoplasms" EXACT [NCIT:C3290]
synonym: "orbital tumor" EXACT [NCIT:C3290]
synonym: "tumor of orbit" EXACT [NCIT:C3290]
synonym: "tumor of orbit of skull" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the orbit" EXACT [NCIT:C3290]
xref: NCIT:C3290 {source="MONDO:equivalentTo"}
is_a: MONDO:0002022 ! disease of orbital region
is_a: MONDO:0023369 ! disease of facial skeleton
is_a: MONDO:0024653 ! skull neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029185
property_value: exactMatch NCIT:C3290

[Term]
id: MONDO:0024612
name: manic bipolar affective disorder
def: "The manic phase of bipolar disorder." [NCIT:C34805]
synonym: "bipolar affective disorder, current episode manic" EXACT []
synonym: "manic bipolar affective disorder" EXACT [NCIT:C34805]
synonym: "manic-depressive - now manic" RELATED []
xref: NCIT:C34805 {source="MONDO:equivalentTo"}
xref: SCTID:191618007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004985 {source="NCIT:C34805", source="linkedlifedata", source="linkedlifedata/inferred"} ! bipolar disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0024713
property_value: exactMatch http://identifiers.org/snomedct/191618007
property_value: exactMatch NCIT:C34805

[Term]
id: MONDO:0024613
name: bipolar depression
def: "The depressive stage of bipolar disorder." [NCIT:C34424]
synonym: "bipolar affective disorder, current episode depression" EXACT []
synonym: "bipolar depression" EXACT [NCIT:C34424]
synonym: "manic-depressive - now depressed" RELATED []
xref: NCIT:C34424 {source="MONDO:equivalentTo"}
xref: SCTID:191627008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002050 {source="NCIT:C34424", source="linkedlifedata"} ! depressive disorder
is_a: MONDO:0004985 {source="NCIT:C34424", source="linkedlifedata", source="linkedlifedata/inferred"} ! bipolar disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0005587
property_value: exactMatch http://identifiers.org/snomedct/191627008
property_value: exactMatch NCIT:C34424

[Term]
id: MONDO:0024614
name: neurotic depression
def: "A term used for any state of depression that is not psychotic." [NCIT:C35369]
synonym: "neurotic depression" EXACT [NCIT:C35369]
xref: NCIT:C35369 {source="MONDO:equivalentTo"}
is_a: MONDO:0002050 {source="NCIT:C35369"} ! depressive disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0282126
property_value: exactMatch NCIT:C35369

[Term]
id: MONDO:0024615
name: T-cell and NK-cell neoplasm
synonym: "T-cell and NK-cell neoplasm" EXACT [NCIT:C27908]
synonym: "T-cell neoplasm" EXACT [NCIT:C27908]
xref: NCIT:C27908 {source="MONDO:equivalentTo"}
xref: UMLS:C1336554 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27908", source="MONDO:equivalentTo"}
is_a: MONDO:0005157 {source="NCIT:C27908"} ! lymphoid neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336554
property_value: exactMatch NCIT:C27908

[Term]
id: MONDO:0024616
name: tympanitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of tympanic membrane" EXACT []
synonym: "myringitis" EXACT []
synonym: "tympanic membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: SCTID:14852000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027134 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0003648 ! tympanic membrane disease
is_a: MONDO:0005441 ! otitis media (disease)
property_value: exactMatch http://identifiers.org/snomedct/14852000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027134

[Term]
id: MONDO:0024617
name: xanthogranuloma
synonym: "xanthogranuloma" EXACT [NCIT:C27302]
xref: NCIT:C27302 {source="MONDO:equivalentTo"}
xref: SCTID:189099001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="MONDO:cjm"} ! non-Langerhans cell histiocytosis
property_value: exactMatch http://identifiers.org/snomedct/189099001
property_value: exactMatch NCIT:C27302

[Term]
id: MONDO:0024618
name: poliovirus infection
def: "An disease or disorder caused by infection with Enterovirus C." [MONDO:patterns/specific_infectious_disease_by_agent]
comment: Editor note: TODO placeholder class for poliovirus in NCIT
synonym: "Enterovirus C caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterovirus C disease or disorder" EXACT []
synonym: "Enterovirus C infectious disease" EXACT []
synonym: "human poliovirus infection" EXACT []
synonym: "infection caused by human poliovirus" EXACT []
xref: SCTID:721764008 {source="MONDO:equivalentTo"}
xref: UMLS:C4303135 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005747 {source="MESH:D011051", source="MONDO:Redundant", source="linkedlifedata"} ! enterovirus infectious disease
property_value: exactMatch http://identifiers.org/snomedct/721764008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303135

[Term]
id: MONDO:0024619
name: central nervous system infectious disorder
def: "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." [NCIT:C27582]
synonym: "central nervous system infection" RELATED [MESH:D002494]
synonym: "central nervous system infectious disease" EXACT [MONDO:patterns/location, NCIT:C27582]
synonym: "central nervous system infectious disorder" EXACT [NCIT:C27582]
synonym: "infections, central nervous system" RELATED [MESH:D002494]
synonym: "infectious disease of central nervous system" EXACT [MONDO:0021684, NCIT:C27582]
xref: EFO:1001456 {source="MONDO:equivalentTo"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D002494 {source="MONDO:equivalentTo"}
xref: NCIT:C27582 {source="MONDO:equivalentTo"}
xref: SCTID:128117002 {source="MONDO:equivalentTo"}
xref: UMLS:C0007684 {source="NCIT:C27582", source="MONDO:equivalentTo"}
is_a: MONDO:0002602 {source="MESH:D002494", source="MONDO:Redundant", source="MONDOLEX:0024619", source="NCIT:C27582/inferred", source="linkedlifedata"} ! central nervous system disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C27582", source="linkedlifedata"} ! infectious disease of the nervous system
property_value: exactMatch http://identifiers.org/mesh/D002494
property_value: exactMatch http://identifiers.org/snomedct/128117002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007684
property_value: exactMatch NCIT:C27582

[Term]
id: MONDO:0024620
name: meningitis caused by poliovirus
synonym: "meningitis caused by human poliovirus" EXACT []
synonym: "polio virus meningitis" RELATED []
xref: SCTID:721765009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303134 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004796 {source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! infectious meningitis
is_a: MONDO:0024318 ! viral infection of central nervous system
is_a: MONDO:0024618 ! poliovirus infection
intersection_of: MONDO:0021108 ! meningitis (disease)
intersection_of: MONDO:0024618 ! poliovirus infection
property_value: exactMatch http://identifiers.org/snomedct/721765009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4303134

[Term]
id: MONDO:0024621
name: serous cystadenocarcinoma
def: "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." [NCIT:C3778]
synonym: "serous adenocarcinoma" EXACT [NCIT:C3778]
synonym: "serous cystadenocarcinoma" EXACT [NCIT:C3778]
xref: ICDO:8441/3 {source="NCIT:C3778"}
xref: NCIT:C3778 {source="MONDO:equivalentTo"}
is_a: MONDO:0005278 {source="MONDO:Redundant", source="MONDOLEX:0024621", source="NCIT:C3778"} ! serous adenocarcinoma
is_a: MONDO:0005596 {source="MONDO:Redundant", source="MONDOLEX:0024621", source="NCIT:C3778"} ! cystadenocarcinoma
intersection_of: MONDO:0005278 {source="NCIT:C3778"} ! serous adenocarcinoma
intersection_of: MONDO:0005596 {source="NCIT:C3778"} ! cystadenocarcinoma
property_value: exactMatch NCIT:C3778

[Term]
id: MONDO:0024622
name: thyroid gland adenocarcinoma
def: "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." [NCIT:C27380]
synonym: "thyroid adenocarcinoma" EXACT [NCIT:C27380]
synonym: "thyroid gland adenocarcinoma" EXACT [NCIT:C27380]
xref: NCIT:C27380 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="MONDO:Redundant", source="MONDOLEX:0024622", source="NCIT:C27380"} ! adenocarcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C27380"} ! thyroid gland carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1704228
property_value: exactMatch NCIT:C27380

[Term]
id: MONDO:0024623
name: otorhinolaryngologic disease
def: "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." [MESH:D010038]
comment: Editor note: consider uberon class
synonym: "disease, ENT" RELATED [MESH:D010038]
synonym: "disease, otolaryngologic" RELATED [MESH:D010038]
synonym: "disease, otolaryngological" RELATED [MESH:D010038]
synonym: "disease, otorhinolaryngologic" RELATED [MESH:D010038]
synonym: "disease, otorhinolaryngological" RELATED [MESH:D010038]
synonym: "diseases, ENT" RELATED [MESH:D010038]
synonym: "diseases, otolaryngologic" RELATED [MESH:D010038]
synonym: "diseases, otolaryngological" RELATED [MESH:D010038]
synonym: "diseases, otorhinolaryngologic" RELATED [MESH:D010038]
synonym: "diseases, otorhinolaryngological" RELATED [MESH:D010038]
synonym: "ear, nose and throat disorder" EXACT []
synonym: "ear, nose or throat disorder" EXACT []
synonym: "ear/nose/throat disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "ENT disease" RELATED [MESH:D010038]
synonym: "ENT diseases" RELATED [MESH:D010038]
synonym: "otolaryngologic disease" RELATED [MESH:D010038]
synonym: "otolaryngologic diseases" RELATED [MESH:D010038]
synonym: "otolaryngologic disorder" EXACT [NCIT:C118420]
synonym: "otolaryngological disease" RELATED [MESH:D010038]
synonym: "otolaryngological diseases" RELATED [MESH:D010038]
synonym: "otorhinolaryngologic disease" EXACT [MESH:D010038]
synonym: "otorhinolaryngological disease" RELATED [MESH:D010038]
synonym: "otorhinolaryngological diseases" RELATED [MESH:D010038]
xref: ICD9:478.19 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010038 {source="MONDO:equivalentTo"}
xref: NCIT:C118420 {source="MONDO:equivalentTo"}
xref: SCTID:232208008 {source="MONDO:equivalentTo"}
xref: UMLS:C0029896 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"}
xref: UMLS:C0395797 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0021059 {source="MONDO:Redundant", source="NCIT:C118420"} ! head or neck disease/disorder
property_value: exactMatch http://identifiers.org/mesh/D010038
property_value: exactMatch http://identifiers.org/snomedct/232208008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029896
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395797
property_value: exactMatch NCIT:C118420

[Term]
id: MONDO:0024624
name: atrophy of lacrimal gland
def: "A degenerative disorder that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "atrophy of lacrimal gland" EXACT []
synonym: "degenerative disorder of lacrimal gland" EXACT []
synonym: "lacrimal atrophy" RELATED []
synonym: "lacrimal gland degenerative disorder" EXACT [MONDO:patterns/location]
xref: SCTID:91951001 {source="MONDO:equivalentTo"}
xref: UMLS:C0339119 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024236 ! degenerative disorder
is_a: MONDO:0024625 ! disorder of lacrimal gland
property_value: exactMatch http://identifiers.org/snomedct/91951001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339119

[Term]
id: MONDO:0024625
name: disorder of lacrimal gland
def: "A disease that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "disease of lacrimal gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lacrimal gland" EXACT []
synonym: "disorder of lacrimal gland" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "lacrimal gland disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lacrimal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:95766002 {source="MONDO:equivalentTo"}
xref: UMLS:C0235228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001854 {source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal apparatus disease
property_value: exactMatch http://identifiers.org/snomedct/95766002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235228

[Term]
id: MONDO:0024626
name: defective phagocytic cell engulfment
synonym: "defective phagocytic cell killing" EXACT []
xref: SCTID:234585008 {source="MONDO:equivalentTo"}
xref: UMLS:C0398742 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted
is_a: MONDO:0024627 {source="MONDO:Redundant", source="linkedlifedata"} ! phagocytic cell dysfunction
property_value: exactMatch http://identifiers.org/snomedct/234585008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398742

[Term]
id: MONDO:0024627
name: phagocytic cell dysfunction
synonym: "defective phagocytosis" EXACT []
synonym: "phagocytic cell dysfunction" EXACT []
xref: SCTID:302874002 {source="MONDO:equivalentTo"}
xref: UMLS:C0398732 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: exactMatch http://identifiers.org/snomedct/302874002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398732

[Term]
id: MONDO:0024630
name: defective phagocytic cell chemotaxis
synonym: "defective phagocytic cell chemotaxis" EXACT []
xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:234580003 {source="MONDO:equivalentTo"}
xref: UMLS:C0398735 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024627 {source="MONDO:Redundant", source="linkedlifedata"} ! phagocytic cell dysfunction
property_value: exactMatch http://identifiers.org/snomedct/234580003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398735

[Term]
id: MONDO:0024632
name: defective phagocytic cell opsonization
synonym: "defective phagocytic cell opsonization" EXACT []
xref: SCTID:234578009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398733 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024627 {source="MONDO:Redundant", source="linkedlifedata"} ! phagocytic cell dysfunction
property_value: exactMatch http://identifiers.org/snomedct/234578009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0398733

[Term]
id: MONDO:0024633
name: hypertensive renal disease
def: "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria." [NCIT:C4757]
synonym: "hypertensive nephropathy" EXACT [NCIT:C4757]
synonym: "hypertensive nephropathy" RELATED []
synonym: "hypertensive renal disease" EXACT []
xref: ICD9:403.90 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C4757 {source="MONDO:equivalentTo"}
xref: SCTID:38481006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 ! kidney disease
intersection_of: MONDO:0005240 ! kidney disease
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
relationship: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
property_value: exactMatch http://identifiers.org/snomedct/38481006
property_value: exactMatch NCIT:C4757

[Term]
id: MONDO:0024634
name: large intestine disease
def: "A disease that involves the large intestine." [MONDO:patterns/location]
synonym: "disease of large intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of large intestine" EXACT []
synonym: "disorder of large intestine" EXACT [MONDO:patterns/location_top]
synonym: "disorder of large intestine" RELATED [MONDO:patterns/location_top]
synonym: "large intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:119523007 {source="MONDO:equivalentTo"}
xref: UMLS:C0341321 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="linkedlifedata"} ! intestinal disease
property_value: exactMatch http://identifiers.org/snomedct/119523007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341321

[Term]
id: MONDO:0024635
name: small intestine disease
def: "A disease that involves the small intestine." [MONDO:patterns/location]
synonym: "disease of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of small intestine" EXACT []
synonym: "disorder of small intestine" EXACT [MONDO:patterns/location_top]
synonym: "disorder of small intestine" RELATED [MONDO:patterns/location_top]
synonym: "small intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:119522002 {source="MONDO:equivalentTo"}
xref: UMLS:C0341268 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="linkedlifedata"} ! intestinal disease
property_value: exactMatch http://identifiers.org/snomedct/119522002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341268

[Term]
id: MONDO:0024636
name: inflammation of heart layer
def: "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "carditis" EXACT []
synonym: "heart layer inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: ICD9:429.89 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:399617002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: exactMatch http://identifiers.org/snomedct/399617002

[Term]
id: MONDO:0024637
name: malignant soft tissue neoplasm
def: "A malignant neoplasm arising exclusively from the soft tissues." [NCIT:C4867]
synonym: "malignant neoplasm of soft tissue" EXACT [NCIT:C4867]
synonym: "malignant neoplasm of the soft tissue" EXACT [NCIT:C4867]
synonym: "malignant soft tissue neoplasm" EXACT [NCIT:C4867]
synonym: "malignant soft tissue tumor" EXACT [NCIT:C4867]
synonym: "malignant tumor of soft tissue" EXACT [NCIT:C4867]
synonym: "malignant tumor of the soft tissue" EXACT [NCIT:C4867]
xref: NCIT:C4867 {source="MONDO:equivalentTo"}
xref: SCTID:269469005 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="MONDOLEX:0024637", source="linkedlifedata"} ! cancer
is_a: MONDO:0006424 {source="NCIT:C4867", source="linkedlifedata"} ! soft tissue neoplasm
property_value: exactMatch http://identifiers.org/snomedct/269469005
property_value: exactMatch NCIT:C4867

[Term]
id: MONDO:0024638
name: pancreatic gastrinoma
def: "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." [NCIT:C95596]
synonym: "pancreatic gastrinoma" EXACT [NCIT:C95596]
xref: NCIT:C95596 {source="MONDO:equivalentTo"}
is_a: MONDO:0003525 {source="MONDO:Redundant", source="MONDOLEX:0024638", source="NCIT:C95596"} ! pancreatic gastrin-producing neuroendocrine tumor
is_a: MONDO:0023206 {source="MONDO:Redundant", source="NCIT:C95596"} ! functional pancreatic neuroendocrine tumor
intersection_of: MONDO:0003525 {source="NCIT:C95596"} ! pancreatic gastrin-producing neuroendocrine tumor
intersection_of: MONDO:0023206 {source="NCIT:C95596"} ! functional pancreatic neuroendocrine tumor
intersection_of: disease_has_feature MONDO:0019610 {source="NCIT:C95596"} ! Zollinger-Ellison syndrome
relationship: disease_has_feature MONDO:0019610 ! Zollinger-Ellison syndrome
property_value: exactMatch NCIT:C95596

[Term]
id: MONDO:0024639
name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor
def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome." [NCIT:C27443]
synonym: "gastric EC cell serotonin-producing NET" EXACT [NCIT:C27443]
synonym: "gastric EC-cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443]
synonym: "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443]
xref: NCIT:C27443 {source="MONDO:equivalentTo"}
xref: UMLS:C3274137 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27443", source="MONDO:equivalentTo"}
is_a: MONDO:0015062 {source="NCIT:C27443"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3274137
property_value: exactMatch NCIT:C27443

[Term]
id: MONDO:0024642
name: gastric neuroendocrine tumor G2
def: "A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent." [NCIT:C95880]
synonym: "gastric NET G2" EXACT [NCIT:C95880]
synonym: "gastric neuroendocrine tumor G2" EXACT [NCIT:C95880]
xref: NCIT:C95880 {source="MONDO:equivalentTo"}
xref: UMLS:C3272407 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C95880"}
is_a: MONDO:0015062 {source="NCIT:C95880"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: has_modifier MONDO:0024492 ! tumor grade 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272407
property_value: exactMatch NCIT:C95880

[Term]
id: MONDO:0024643
name: myocardial disorder
def: "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." [NCIT:C35544]
synonym: "disease of myocardium" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of myocardium" EXACT []
synonym: "disorder of heart muscle" RELATED []
synonym: "disorder of myocardium" EXACT [MONDO:patterns/location_top]
synonym: "disorder of myocardium" RELATED [MONDO:patterns/location_top]
synonym: "myocardial disease" EXACT []
synonym: "myocardial disorder" EXACT [NCIT:C35544]
synonym: "myocardium disease" EXACT [MONDO:design_pattern]
synonym: "myocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: NCIT:C35544 {source="MONDO:equivalentTo"}
xref: SCTID:57809008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 ! musculoskeletal system disease
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C35544/inferred", source="linkedlifedata"} ! heart disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3241958
property_value: exactMatch http://identifiers.org/snomedct/57809008
property_value: exactMatch NCIT:C35544

[Term]
id: MONDO:0024644
name: myocardial ischemia
def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." [MESH:D017202]
synonym: "disease, ischemic heart" RELATED [MESH:D017202]
synonym: "diseases, ischemic heart" RELATED [MESH:D017202]
synonym: "heart disease, ischemic" RELATED [MESH:D017202]
synonym: "heart diseases, ischemic" RELATED [MESH:D017202]
synonym: "IHD" EXACT [NCIT:C50625]
synonym: "ischemia, myocardial" RELATED [MESH:D017202]
synonym: "ischemias, myocardial" RELATED [MESH:D017202]
synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern]
synonym: "ischemic heart disease" EXACT [MESH:D017202]
synonym: "ischemic heart diseases" RELATED [MESH:D017202]
synonym: "myocardial Ischemias" RELATED [MESH:D017202]
synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1001375 {source="MONDO:equivalentTo"}
xref: ICD10:I20.I25 {source="MONDO:equivalentTo"}
xref: MESH:D017202 {source="MONDO:equivalentTo"}
xref: NCIT:C50625 {source="MONDO:equivalentTo"}
xref: SCTID:414545008 {source="MONDO:equivalentTo"}
xref: UMLS:C0151744 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005053 ! ischemic disease
is_a: MONDO:0024643 {source="MONDO:Redundant", source="MONDO:cjm"} ! myocardial disorder
property_value: exactMatch http://identifiers.org/mesh/D017202
property_value: exactMatch http://identifiers.org/snomedct/414545008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151744
property_value: exactMatch NCIT:C50625

[Term]
id: MONDO:0024645
name: retroperitoneal neoplasm
def: "A benign or malignant neoplasm that affects the retroperitoneum." [NCIT:C3357]
synonym: "neoplasm of retroperitoneal space" EXACT [MONDO:patterns/neoplasm]
synonym: "retroperitoneal neoplasm" EXACT [NCIT:C3357]
synonym: "retroperitoneal space neoplasm" EXACT []
synonym: "retroperitoneal space tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of retroperitoneal space" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C3357 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 ! neoplasm (disease)
is_a: MONDO:0020595 ! disease of retroperitoneum
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035358
property_value: exactMatch NCIT:C3357

[Term]
id: MONDO:0024646
name: obsolete refractory
xref: NCIT:C39752 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C1514815 {source="NCIT:C39752", source="MONDO:notFoundInDiseaseSubset", source="MONDO:objectEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514815
property_value: exactMatch NCIT:C39752
is_obsolete: true
replaced_by: HP:0031375

[Term]
id: MONDO:0024647
name: urolithiasis
def: "Stone(s) within the urinary tract." [NCIT:C114688]
synonym: "calculus" EXACT []
synonym: "kidney stone" EXACT []
synonym: "urinary stones" EXACT [NCIT:C114688]
synonym: "urolithiasis" EXACT []
xref: ICD10:N21 {source="MONDO:equivalentTo"}
xref: NCIT:C114688 {source="MONDO:equivalentTo"}
xref: SCTID:95566004 {source="MONDO:equivalentTo"}
xref: UMLS:C0451641 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002118 {source="NCIT:C114688/inferred", source="linkedlifedata"} ! urinary system disease
property_value: exactMatch http://identifiers.org/snomedct/95566004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0451641
property_value: exactMatch NCIT:C114688

[Term]
id: MONDO:0024648
name: optic tract meningioma
def: "A meningioma that affects the visual pathway." [NCIT:C5587]
synonym: "meningioma (disease) of optic tract" EXACT []
synonym: "meningioma of optic tract" EXACT [NCIT:C5587]
synonym: "meningioma of the optic tract" EXACT [NCIT:C5587]
synonym: "meningioma of the visual pathway" EXACT [NCIT:C5587]
synonym: "meningioma of visual pathway" EXACT [NCIT:C5587]
synonym: "optic tract meningioma" EXACT [NCIT:C5587]
synonym: "optic tract meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "visual pathway meningioma" EXACT [NCIT:C5587]
xref: NCIT:C5587 {source="MONDO:equivalentTo"}
xref: UMLS:C1336972 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5587"}
is_a: MONDO:0000642 ! brain meningioma
is_a: MONDO:0001834 ! visual pathway disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336972
property_value: exactMatch NCIT:C5587

[Term]
id: MONDO:0024649
name: optic tract astrocytoma
def: "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C7533]
synonym: "astrocytoma (excluding glioblastoma) of optic tract" EXACT [MONDO:design_pattern]
synonym: "optic tract astrocytoma" EXACT [NCIT:C7533]
synonym: "optic tract astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
synonym: "visual pathway astrocytoma" EXACT [NCIT:C7533]
xref: NCIT:C7533 {source="MONDO:equivalentTo"}
xref: UMLS:C1336971 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7533"}
is_a: MONDO:0000649 ! sensory system cancer
is_a: MONDO:0002109 ! pituitary cancer
is_a: MONDO:0003169 ! diencephalic astrocytomas
is_a: MONDO:0016167 {source="MONDO:Redundant", source="NCIT:C7533"} ! optic pathway glioma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336971
property_value: exactMatch NCIT:C7533

[Term]
id: MONDO:0024650
name: drug-induced osteoporosis
synonym: "drug-induced osteoporosis" EXACT []
xref: ICD9:733.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:14651005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005298 {source="MONDO:Redundant", source="linkedlifedata"} ! osteoporosis
property_value: exactMatch http://identifiers.org/snomedct/14651005

[Term]
id: MONDO:0024651
name: corticosteroid-induced osteoporosis
synonym: "osteoporosis caused by corticosteroid" RELATED []
synonym: "osteoporosis due to corticosteroid" EXACT []
xref: ICD9:733.09 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:390833005 {source="MONDO:equivalentTo"}
xref: UMLS:C1272167 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024650 {source="MONDO:Redundant", source="linkedlifedata"} ! drug-induced osteoporosis
property_value: exactMatch http://identifiers.org/snomedct/390833005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1272167

[Term]
id: MONDO:0024652
name: embryonic cyst of fallopian tube
synonym: "cyst of mesenteric remnant" RELATED []
synonym: "embryonic cyst of fallopian tube" EXACT []
xref: ICD10:Q50.4 {source="MONDO:equivalentTo"}
xref: SCTID:302954008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002156 ! fallopian tube disease
property_value: exactMatch http://identifiers.org/snomedct/302954008

[Term]
id: MONDO:0024653
name: skull neoplasm
def: "A benign or malignant neoplasm that affects the bones and structures of the skull." [NCIT:C3375]
synonym: "neoplasm of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "neoplasm of the skull" EXACT [NCIT:C3375]
synonym: "skull neoplasm" EXACT [NCIT:C3375]
synonym: "skull tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "tumor of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "tumor of the skull" EXACT [NCIT:C3375]
xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C3375 {source="MONDO:equivalentTo"}
xref: SCTID:126538005 {source="MONDO:equivalentTo"}
xref: UMLS:C0037305 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3375"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3375", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! head and neck neoplasm
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0024654 ! skull disorder
property_value: exactMatch http://identifiers.org/snomedct/126538005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0037305
property_value: exactMatch NCIT:C3375

[Term]
id: MONDO:0024654
name: skull disorder
def: "A non-neoplastic or neoplastic disorder that affects structures of the skull." [NCIT:C27655]
synonym: "disease of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of skull" EXACT []
synonym: "disorder of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of skull" RELATED [MONDO:patterns/location_top]
synonym: "skull disease" EXACT [NCIT:C27655]
synonym: "skull disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "skull disorder" EXACT [NCIT:C27655]
xref: NCIT:C27655 {source="MONDO:equivalentTo"}
xref: SCTID:118945008 {source="MONDO:equivalentTo"}
xref: UMLS:C1290854 {source="MONDO:equivalentTo", source="NCIT:C27655"}
is_a: MONDO:0005042 ! head disease
is_a: MONDO:0005381 {source="linkedlifedata"} ! bone disease
property_value: exactMatch http://identifiers.org/snomedct/118945008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290854
property_value: exactMatch NCIT:C27655

[Term]
id: MONDO:0024655
name: rheumatic pericarditis
synonym: "rheumatic pericarditis" EXACT []
xref: SCTID:28381002 {source="MONDO:equivalentTo"}
xref: UMLS:C0264747 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005904 {source="MONDO:Redundant", source="linkedlifedata"} ! pericarditis (disease)
is_a: MONDO:0006955 {source="MONDO:Redundant", source="linkedlifedata"} ! rheumatic heart disease
property_value: exactMatch http://identifiers.org/snomedct/28381002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264747

[Term]
id: MONDO:0024656
name: colorectal lymphoma
def: "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C96498]
synonym: "colorectal lymphoma" EXACT [NCIT:C96498]
synonym: "large intestinal lymphoma" EXACT [NCIT:C96498]
synonym: "large intestine lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of large intestine" EXACT [MONDO:design_pattern]
synonym: "primary colorectal lymphoma" EXACT [NCIT:C96498]
xref: NCIT:C96498 {source="MONDO:equivalentTo"}
xref: UMLS:C3272822 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96498"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C96498"} ! gastrointestinal lymphoma
is_a: MONDO:0005575 {source="NCIT:C96498"} ! colorectal cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272822
property_value: exactMatch NCIT:C96498

[Term]
id: MONDO:0024657
name: obsolete macrocystic neurilemmoma
comment: The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic
xref: DOID:3203 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:3203
is_obsolete: true
consider: MONDO:0002556

[Term]
id: MONDO:0024658
name: extrahepatic bile duct sarcoma
def: "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." [NCIT:C5029]
synonym: "extrahepatic bile duct sarcoma" EXACT [NCIT:C5029]
synonym: "sarcoma of extrahepatic bile duct" EXACT [MONDO:patterns/sarcoma, NCIT:C5029]
synonym: "sarcoma of the extrahepatic bile duct" EXACT [NCIT:C5029]
xref: NCIT:C5029 {source="MONDO:equivalentTo"}
xref: UMLS:C2205442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5029"}
is_a: MONDO:0002862 ! bile duct sarcoma
is_a: MONDO:0021321 {source="MONDO:Redundant", source="NCIT:C5029"} ! malignant tumor of extrahepatic bile duct
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2205442
property_value: exactMatch NCIT:C5029

[Term]
id: MONDO:0024659
name: colorectal Kaposi sarcoma
def: "A Kaposi sarcoma that arises from the colon or rectum." [NCIT:C96510]
synonym: "colorectal Kaposi sarcoma" EXACT [NCIT:C96510]
synonym: "Kaposi's sarcoma (disease) of large intestine" EXACT []
synonym: "large intestinal Kaposi sarcoma" EXACT [NCIT:C96510]
synonym: "large intestine Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
xref: NCIT:C96510 {source="MONDO:equivalentTo"}
xref: UMLS:C3272833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96510"}
is_a: MONDO:0005055 {source="MONDO:Redundant", source="NCIT:C96510"} ! Kaposi's sarcoma (disease)
is_a: MONDO:0005814 ! intestinal cancer
is_a: MONDO:0024634 ! large intestine disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3272833
property_value: exactMatch NCIT:C96510

[Term]
id: MONDO:0024660
name: tubular adenoma
def: "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum." [NCIT:C4133]
synonym: "adenoma, tubular cell, benign" EXACT [NCIT:C4133]
synonym: "tubular adenoma" EXACT [NCIT:C4133]
xref: ICDO:8211/0 {source="NCIT:C4133"}
xref: NCIT:C4133 {source="MONDO:equivalentTo"}
xref: SCTID:444408007 {source="MONDO:equivalentTo"}
xref: UMLS:C0334292 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4133", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="NCIT:C4133", source="linkedlifedata"} ! adenoma
property_value: exactMatch http://identifiers.org/snomedct/444408007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334292
property_value: exactMatch NCIT:C4133

[Term]
id: MONDO:0024661
name: tubulovillous adenoma
def: "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." [NCIT:C4143]
synonym: "tubulovillous adenoma" EXACT [NCIT:C4143]
xref: ICDO:8263/0 {source="NCIT:C4143"}
xref: NCIT:C4143 {source="MONDO:equivalentTo"}
xref: UMLS:C0334307 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4143", source="MONDO:equivalentTo"}
is_a: MONDO:0004972 {source="NCIT:C4143"} ! adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334307
property_value: exactMatch NCIT:C4143

[Term]
id: MONDO:0024662
name: colorectal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5675]
synonym: "colorectal tubulovillous adenoma" EXACT [NCIT:C5675]
synonym: "large bowel tubulovillous adenoma" EXACT [NCIT:C5675]
synonym: "tubulovillous adenoma of large bowel" EXACT [NCIT:C5675]
synonym: "tubulovillous adenoma of the large bowel" EXACT [NCIT:C5675]
xref: NCIT:C5675 {source="MONDO:equivalentTo"}
xref: UMLS:C1333118 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5675"}
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C5675"} ! colorectal adenoma
is_a: MONDO:0024661 {source="MONDO:Redundant", source="MONDOLEX:0024662", source="NCIT:C5675"} ! tubulovillous adenoma
intersection_of: MONDO:0005484 {source="NCIT:C5675"} ! colorectal adenoma
intersection_of: MONDO:0024661 {source="NCIT:C5675"} ! tubulovillous adenoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333118
property_value: exactMatch NCIT:C5675

[Term]
id: MONDO:0024663
name: primary skin meningioma
synonym: "primary cutaneous meningioma" EXACT [NCIT:C5277]
synonym: "primary meningioma of skin" EXACT [NCIT:C5277]
synonym: "primary meningioma of the skin" EXACT [NCIT:C5277]
synonym: "primary skin meningioma" EXACT [NCIT:C5277]
xref: NCIT:C5277 {source="MONDO:equivalentTo"}
is_a: MONDO:0003363 ! malignant dermis tumor
is_a: MONDO:0004429 {source="MONDO:cjm", source="MONDOLEX:0024663"} ! skin meningioma
property_value: exactMatch NCIT:C5277

[Term]
id: MONDO:0024664
name: hypertension, pregnancy-induced
alt_id: MONDO:0024581
def: "A hypertensive disorder that develops during pregnancy." [NCIT:C9243]
synonym: "gestational hypertension" RELATED [MESH:D046110]
synonym: "hypertension associated disorders of pregnancy" EXACT [NCIT:C9243]
synonym: "hypertension complicating pregnancy" RELATED []
synonym: "hypertension induced by pregnancy" RELATED []
synonym: "hypertension, gestational" RELATED [MESH:D046110]
synonym: "hypertension, pregnancy induced" RELATED [MESH:D046110]
synonym: "hypertension, pregnancy transient" RELATED [MESH:D046110]
synonym: "hypertension-associated pregnancy disorder" EXACT [NCIT:C9243]
synonym: "hypertensions, pregnancy induced" RELATED [MESH:D046110]
synonym: "induced hypertension, pregnancy" RELATED [MESH:D046110]
synonym: "induced Hypertensions, pregnancy" RELATED [MESH:D046110]
synonym: "pregnancy induced hypertension" RELATED [MESH:D046110]
synonym: "pregnancy transient hypertension" RELATED [MESH:D046110]
synonym: "pregnancy-induced hypertension" EXACT [MESH:D046110]
synonym: "transient hypertension, pregnancy" RELATED [MESH:D046110]
xref: MESH:D046110 {source="MONDO:equivalentTo"}
xref: NCIT:C9243 {source="MONDO:equivalentTo"}
xref: SCTID:48194001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005044 {source="MESH:D046110", source="MONDO:Redundant", source="linkedlifedata"} ! hypertensive disorder
is_a: MONDO:0024575 {source="MESH:D046110", source="MONDO:Redundant", source="NCIT:C9243"} ! pregnancy disorder
intersection_of: MONDO:0005044 ! hypertensive disorder
intersection_of: MONDO:0024575 ! pregnancy disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0852260
property_value: exactMatch http://identifiers.org/mesh/D046110
property_value: exactMatch http://identifiers.org/snomedct/48194001
property_value: exactMatch NCIT:C9243

[Term]
id: MONDO:0024665
name: indeterminate sex and/or pseudohermaphroditism
synonym: "gynandrism" RELATED []
xref: ICD10:Q56 {source="MONDO:equivalentTo"}
xref: ICD9:752.7 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:268229003 {source="MONDO:equivalentTo"}
is_a: MONDO:0002145 {source="MONDO:cjm"} ! sex differentiation disease
property_value: exactMatch http://identifiers.org/snomedct/268229003

[Term]
id: MONDO:0024666
name: benign epithelial skin neoplasm
def: "A form of epithelial skin neoplasm without malignant characteristics." [MONDO:patterns/benign]
synonym: "benign epithelial skin neoplasm" EXACT [NCIT:C7341]
synonym: "benign epithelial skin tumor" EXACT [NCIT:C7341]
synonym: "benign skin epithelium neoplasm" EXACT [NCIT:C7341]
synonym: "benign skin epithelium tumor" EXACT [NCIT:C7341]
synonym: "epithelial skin neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: NCIT:C7341 {source="MONDO:equivalentTo"}
xref: UMLS:C0345981 {source="NCIT:C7341", source="MONDO:equivalentTo"}
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C7341"} ! benign neoplasm of skin
is_a: MONDO:0021634 {source="MONDO:Redundant", source="MONDOLEX:0024666", source="NCIT:C7341"} ! epithelial skin neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345981
property_value: exactMatch NCIT:C7341

[Term]
id: MONDO:0024673
name: skin lymphangioma
def: "A lymphangioma arising from the skin." [NCIT:C27509]
synonym: "cutaneous lymphangioma" EXACT [NCIT:C27509]
synonym: "skin lymphangioma" EXACT [NCIT:C27509]
xref: NCIT:C27509 {source="MONDO:equivalentTo"}
xref: UMLS:C1333176 {source="MONDO:equivalentTo", source="NCIT:C27509"}
is_a: MONDO:0002013 {source="MONDO:Redundant", source="NCIT:C27509"} ! lymphangioma
is_a: MONDO:0024666 ! benign epithelial skin neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333176
property_value: exactMatch NCIT:C27509

[Term]
id: MONDO:0024674
name: Pancoast syndrome
def: "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." [NCIT:C55815]
synonym: "Pancoast syndrome" EXACT [NCIT:C55815]
synonym: "Pancoast tumor" RELATED [MESH:D010178]
synonym: "Pancoast's syndrome" EXACT []
synonym: "Pancoasts syndrome" RELATED [MESH:D010178]
synonym: "superior pulmonary sulcus syndrome" RELATED []
synonym: "syndrome, Pancoast" RELATED [MESH:D010178]
synonym: "syndrome, Pancoast's" RELATED [MESH:D010178]
synonym: "tumor, Pancoast" RELATED [MESH:D010178]
xref: MESH:D010178 {source="MONDO:equivalentTo"}
xref: NCIT:C55815 {source="MONDO:equivalentTo"}
xref: SCTID:278065000 {source="MONDO:equivalentTo"}
xref: UMLS:C0030271 {source="NCIT:C55815", source="MONDO:equivalentTo"}
is_a: MONDO:0021058 {source="NCIT:C55815"} ! neoplastic syndrome
is_a: MONDO:0024882 ! secondary neoplasm
relationship: disease_arises_from_feature MONDO:0006883 ! malignant superior sulcus neoplasm
property_value: exactMatch http://identifiers.org/mesh/D010178
property_value: exactMatch http://identifiers.org/snomedct/278065000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030271
property_value: exactMatch NCIT:C55815

[Term]
id: MONDO:0024675
name: adult kidney Wilms tumor
def: "Wilms tumor of the kidney which occurs in adults." [NCIT:C6180]
synonym: "adenosarcoma of adult kidney" EXACT [NCIT:C6180]
synonym: "adenosarcoma of the adult kidney" EXACT [NCIT:C6180]
synonym: "adult kidney adenosarcoma" EXACT [NCIT:C6180]
synonym: "adult kidney Wilms tumor" EXACT [NCIT:C6180]
synonym: "adult nephroblastoma" EXACT [NCIT:C6180]
synonym: "adult renal adenosarcoma" EXACT [NCIT:C6180]
synonym: "adult renal Wilms tumor" EXACT [NCIT:C6180]
synonym: "adult renal Wilms' tumor" EXACT [NCIT:C6180]
synonym: "kidney Wilms tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: NCIT:C6180 {source="MONDO:equivalentTo"}
xref: UMLS:C1332219 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6180"}
is_a: MONDO:0019004 {source="MONDO:Redundant", source="MONDOLEX:0024675", source="NCIT:C6180"} ! kidney Wilms tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332219
property_value: exactMatch NCIT:C6180

[Term]
id: MONDO:0024676
name: childhood kidney Wilms tumor
def: "A Wilms tumor of the kidney which occurs in children." [NCIT:C27730]
synonym: "childhood kidney Wilms tumor" EXACT [NCIT:C27730]
synonym: "childhood renal Wilms tumor" EXACT [NCIT:C27730]
synonym: "childhood renal Wilms' tumor" EXACT [NCIT:C27730]
synonym: "childhood Wilms tumor" EXACT [NCIT:C27730]
synonym: "kidney Wilms tumor" EXACT [NCIT:C27730]
synonym: "Wilms tumor" EXACT [NCIT:C27730]
xref: NCIT:C27730 {source="MONDO:equivalentTo"}
xref: UMLS:C1333015 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C27730", source="MONDO:equivalentTo"}
is_a: MONDO:0019004 {source="MONDOLEX:0024676", source="NCIT:C27730"} ! kidney Wilms tumor
is_a: MONDO:0036511 ! childhood malignant kidney neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333015
property_value: exactMatch NCIT:C27730

[Term]
id: MONDO:0024677
name: pancreatic insulinoma
def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." [NCIT:C95598]
comment: Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma
subset: gard_rare
subset: ordo_disease {source="Orphanet:97279"}
synonym: "adenoma, beta cell" RELATED [MESH:D007340]
synonym: "adenoma, beta-cell" RELATED [MESH:D007340]
synonym: "adenomas, beta-cell" RELATED [MESH:D007340]
synonym: "beta cell tumor" RELATED [MESH:D007340]
synonym: "beta-cell adenoma" RELATED [MESH:D007340]
synonym: "beta-cell adenomas" RELATED [MESH:D007340]
synonym: "beta-cell tumor" RELATED [MESH:D007340]
synonym: "beta-cell tumors" RELATED [MESH:D007340]
synonym: "insulin-producing tumor of islet cells" EXACT EXCLUDE [DOID:3892]
synonym: "insulinoma" EXACT [NCIT:C95598]
synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340]
synonym: "Insulinomas" RELATED [MESH:D007340]
synonym: "insuloma" RELATED [MESH:D007340]
synonym: "Insulomas" RELATED [MESH:D007340]
synonym: "islet cell adenoma" EXACT [DOID:3892]
synonym: "pancreatic insulinoma" EXACT [NCIT:C95598]
synonym: "tumor, beta-cell" RELATED [MESH:D007340]
synonym: "tumors, beta-cell" RELATED [MESH:D007340]
xref: DOID:3892 {source="MONDO:equivalentTo", source="EFO:0000549"}
xref: EFO:0000549 {source="MONDO:equivalentTo"}
xref: GARD:0003010 {source="MONDO:equivalentTo"}
xref: HP:0012197 {source="MONDO:otherHierarchy", source="ontobio"}
xref: ICD10:E16.8 {source="Orphanet:97279", source="ORDO:97279/ntbt"}
xref: MedDRA:10022498 {source="Orphanet:97279", source="ORDO:97279/e"}
xref: MESH:D007340 {source="DOID:3892", source="Orphanet:97279", source="MONDO:equivalentTo", source="EFO:0000549", source="ORDO:97279/e"}
xref: NCIT:C95598 {source="MONDO:equivalentTo"}
xref: SCTID:302822000 {source="DOID:3892", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:0000549"}
is_a: MONDO:0005048 {source="MONDOLEX:0024677", source="NCIT:C95598"} ! pancreatic insulin-producing neuroendocrine tumor
is_a: MONDO:0023206 {source="NCIT:C95598"} ! functional pancreatic neuroendocrine tumor
property_value: closeMatch http://identifiers.org/mesh/D007516
property_value: exactMatch DOID:3892
property_value: exactMatch http://identifiers.org/meddra/10022498
property_value: exactMatch http://identifiers.org/mesh/D007340
property_value: exactMatch http://identifiers.org/snomedct/302822000
property_value: exactMatch NCIT:C95598

[Term]
id: MONDO:0024685
name: Philadelphia-positive myelogenous leukemia
synonym: "Ph1-positive granulocytic leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myelocytic leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myelogenous leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myeloid leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive granulocytic leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myelocytic leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myelogenous leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myeloid leukemia" EXACT [NCIT:C3177]
xref: NCIT:C3177 {source="MONDO:equivalentTo"}
xref: UMLS:C0023476 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3177"}
is_a: MONDO:0004643 {source="MONDOLEX:0024685", source="NCIT:C3177"} ! myeloid leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023476
property_value: exactMatch NCIT:C3177

[Term]
id: MONDO:0024686
name: tenosynovial giant cell tumor, diffuse type
def: "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." [NCIT:C3401]
synonym: "diffuse giant cell neoplasm of tendon sheath" EXACT [NCIT:C3401]
synonym: "diffuse giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumor of tendon sheath" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumor of Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumor of the Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse tenosynovial giant cell neoplasm" EXACT [NCIT:C3401]
synonym: "diffuse tenosynovial giant cell tumor" EXACT [NCIT:C3401]
synonym: "pigmented villonodular synovitis" EXACT [NCIT:C3401]
synonym: "tenosynovial giant cell tumor diffuse type" RELATED [ONCOTREE:TGCT]
synonym: "tenosynovial giant cell tumor, diffuse type" EXACT [NCIT:C3401]
xref: ICDO:9251/0 {source="NCIT:C3401"}
xref: NCIT:C3401 {source="MONDO:equivalentTo"}
xref: ONCOTREE:TGCT {source="MONDO:equivalentTo"}
is_a: MONDO:0002522 {source="MONDOLEX:0024686", source="NCIT:C3401"} ! tenosynovial giant cell tumor
is_a: MONDO:0024715 {source="NCIT:C3401"} ! benign synovial neoplasm
property_value: exactMatch NCIT:C3401

[Term]
id: MONDO:0024711
name: malignant mixed epithelial stromal tumor of the kidney
def: "A mixed epithelial stromal tumor of the kidney with malignant stromal features." [NCIT:C37265]
synonym: "malignant MEST" EXACT [NCIT:C37265]
synonym: "malignant mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37265]
synonym: "mixed epithelial stromal tumor of the kidney, malignant" EXACT [MONDO:patterns/malignant]
xref: NCIT:C37265 {source="MONDO:equivalentTo"}
xref: UMLS:C1334602 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C37265", source="MONDO:equivalentTo"}
is_a: MONDO:0002367 ! kidney cancer
is_a: MONDO:0002386 {source="MONDO:Redundant", source="MONDOLEX:0024711", source="NCIT:C37265"} ! mixed epithelial stromal tumor of the kidney
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C37265"} ! malignant mixed neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334602
property_value: exactMatch NCIT:C37265

[Term]
id: MONDO:0024715
name: benign synovial neoplasm
def: "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." [NCIT:C3829]
synonym: "benign neoplasm of synovium" EXACT [NCIT:C3829]
synonym: "benign neoplasm of the synovium" EXACT [NCIT:C3829]
synonym: "benign synovial neoplasm" EXACT [NCIT:C3829]
synonym: "benign synovial tumor" EXACT [NCIT:C3829]
synonym: "benign synovioma" EXACT [NCIT:C3829]
synonym: "benign synovium neoplasm" EXACT []
synonym: "benign tumor of synovium" EXACT [NCIT:C3829]
synonym: "benign tumor of the synovium" EXACT [NCIT:C3829]
synonym: "synovioma, benign" EXACT [NCIT:C3829]
synonym: "synovium neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:9040/0 {source="NCIT:C3829"}
xref: NCIT:C3829 {source="MONDO:equivalentTo"}
xref: UMLS:C0221289 {source="NCIT:C3829", source="MONDO:equivalentTo"}
is_a: MONDO:0002528 {source="MONDO:Redundant", source="NCIT:C3829"} ! synovium neoplasm
is_a: MONDO:0044335 ! benign soft tissue neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221289
property_value: exactMatch NCIT:C3829

[Term]
id: MONDO:0024744
name: childhood choroid plexus neoplasm
def: "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." [NCIT:C42080]
synonym: "childhood choroid plexus neoplasm" EXACT [NCIT:C42080]
synonym: "choroid plexus neoplasm" EXACT [NCIT:C42080]
synonym: "choroid plexus neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choroid plexus neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric choroid plexus neoplasm" RELATED [MONDO:patterns/childhood]
xref: NCIT:C42080 {source="MONDO:equivalentTo"}
is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C42080"} ! choroid plexus neoplasm
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch NCIT:C42080

[Term]
id: MONDO:0024746
name: immature teratoma
def: "A teratoma composed of immature, fetal-type tissues." [NCIT:C4286]
synonym: "immature teratoma" EXACT [NCIT:C4286]
synonym: "malignant teratoma" EXACT [NCIT:C4286]
synonym: "teratoma, malignant" EXACT [NCIT:C4286]
xref: ICDO:9080/3 {source="NCIT:C4286"}
xref: NCIT:C4286 {source="MONDO:equivalentTo"}
is_a: MONDO:0002601 {source="NCIT:C4286"} ! teratoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334520
property_value: exactMatch NCIT:C4286

[Term]
id: MONDO:0024757
name: cardiovascular neoplasm
def: "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." [NCIT:C4784]
synonym: "cardiovascular neoplasm" EXACT [NCIT:C4784]
synonym: "cardiovascular system neoplasm" EXACT []
synonym: "cardiovascular system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cardiovascular tumor" EXACT [NCIT:C4784]
synonym: "neoplasm of cardiovascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cardiovascular system" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C4784 {source="MONDO:equivalentTo"}
xref: SCTID:721573003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004995 {source="MONDO:Redundant", source="NCIT:C4784"} ! cardiovascular disease
is_a: MONDO:0005070 ! neoplasm (disease)
property_value: exactMatch http://identifiers.org/snomedct/721573003
property_value: exactMatch NCIT:C4784

[Term]
id: MONDO:0024797
name: adult brain stem neoplasm
def: "A brainstem neoplasm that occurs in an adult." [MONDO:design_pattern]
synonym: "adult brain stem neoplasm" EXACT [NCIT:C5967]
synonym: "adult brain stem tumor" EXACT [NCIT:C5967]
synonym: "adult brainstem neoplasm" EXACT [NCIT:C5967]
synonym: "adult brainstem tumor" EXACT [NCIT:C5967]
synonym: "brainstem neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult brain stem" EXACT [NCIT:C5967]
synonym: "neoplasm of adult brainstem" EXACT [NCIT:C5967]
synonym: "neoplasm of the adult brain stem" EXACT [NCIT:C5967]
synonym: "neoplasm of the adult brainstem" EXACT [NCIT:C5967]
synonym: "tumor of adult brain stem" EXACT [NCIT:C5967]
synonym: "tumor of adult brainstem" EXACT [NCIT:C5967]
synonym: "tumor of the adult brain stem" EXACT [NCIT:C5967]
synonym: "tumor of the adult brainstem" EXACT [NCIT:C5967]
xref: NCIT:C5967 {source="MONDO:equivalentTo"}
xref: UMLS:C1332192 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5967"}
is_a: MONDO:0021228 {source="MONDO:Redundant", source="MONDOLEX:0024797", source="NCIT:C5967"} ! brainstem neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332192
property_value: exactMatch NCIT:C5967

[Term]
id: MONDO:0024813
name: pulmonary sulcus neoplasm
def: "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C27710]
synonym: "pulmonary sulcus neoplasm" EXACT [NCIT:C27710]
synonym: "pulmonary sulcus tumor" EXACT [NCIT:C27710]
xref: NCIT:C27710 {source="MONDO:equivalentTo"}
is_a: MONDO:0021117 {source="NCIT:C27710"} ! lung neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335574
property_value: exactMatch NCIT:C27710

[Term]
id: MONDO:0024857
name: immature extragonadal teratoma
def: "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8884]
synonym: "extragonadal primary malignant teratoma" EXACT [NCIT:C8884]
synonym: "immature extragonadal teratoma" EXACT [NCIT:C8884]
synonym: "malignant extragonadal teratoma" EXACT [NCIT:C8884]
synonym: "primary malignant extragonadal teratoma" EXACT [NCIT:C8884]
xref: NCIT:C8884 {source="MONDO:equivalentTo"}
xref: UMLS:C0855163 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8884", source="MONDO:equivalentTo"}
is_a: MONDO:0003514 ! malignant teratoma
is_a: MONDO:0003578 {source="NCIT:C8884"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0024746 {source="MONDOLEX:0024857", source="NCIT:C8884"} ! immature teratoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0855163
property_value: exactMatch NCIT:C8884

[Term]
id: MONDO:0024861
name: mixed teratoma and seminoma
synonym: "mixed teratoma and seminoma" EXACT [NCIT:C9010]
xref: NCIT:C9010 {source="MONDO:equivalentTo"}
is_a: MONDO:0015864 {source="NCIT:C9010"} ! mixed germ cell tumor
property_value: exactMatch NCIT:C9010

[Term]
id: MONDO:0024863
name: small size posterior uveal melanoma
synonym: "small size posterior uveal melanoma" EXACT [NCIT:C9089]
xref: NCIT:C9089 {source="MONDO:equivalentTo"}
xref: UMLS:C0278867 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003927 {source="MONDOLEX:0024863"} ! posterior uveal melanoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278867
property_value: exactMatch NCIT:C9089

[Term]
id: MONDO:0024864
name: medium/large size posterior uveal melanoma
synonym: "medium/large size posterior uveal melanoma" EXACT [NCIT:C9090]
xref: NCIT:C9090 {source="MONDO:equivalentTo"}
xref: UMLS:C0278868 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003927 {source="MONDOLEX:0024864"} ! posterior uveal melanoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278868
property_value: exactMatch NCIT:C9090

[Term]
id: MONDO:0024868
name: metastatic carcinoma in the adrenal medulla
def: "A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site." [NCIT:C9276]
synonym: "metastatic carcinoma in the adrenal medulla" EXACT [NCIT:C9276]
synonym: "metastatic carcinoma to the adrenal medulla" EXACT [NCIT:C9276]
xref: NCIT:C9276 {source="MONDO:equivalentTo"}
xref: UMLS:C1334717 {source="NCIT:C9276", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004202 ! adrenal medulla carcinoma
is_a: MONDO:0024879 {source="MONDO:Redundant", source="NCIT:C9276"} ! metastatic carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334717
property_value: exactMatch NCIT:C9276

[Term]
id: MONDO:0024873
name: clitoral carcinoma
def: "A carcinoma that arises from the clitoris." [NCIT:C9362]
synonym: "carcinoma of clitoris" EXACT [MONDO:patterns/carcinoma, NCIT:C9362]
synonym: "carcinoma of the clitoris" EXACT [NCIT:C9362]
synonym: "clitoral cancer" EXACT [NCIT:C9362]
synonym: "clitoral carcinoma" EXACT [NCIT:C9362]
synonym: "clitoris carcinoma" EXACT [NCIT:C9362]
xref: NCIT:C9362 {source="MONDO:equivalentTo"}
xref: UMLS:C1333070 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9362"}
is_a: MONDO:0002290 {source="MONDO:Redundant", source="MONDOLEX:0024873", source="NCIT:C9362"} ! clitoris cancer
is_a: MONDO:0005215 {source="MONDO:Redundant", source="NCIT:C9362"} ! vulvar carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333070
property_value: exactMatch NCIT:C9362

[Term]
id: MONDO:0024876
name: tendon sheath disorder
def: "A disease that involves the tendon sheath." [MONDO:patterns/location]
synonym: "disease of tendon sheath" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tendon sheath" EXACT []
synonym: "disorder of tendon sheath" EXACT [MONDO:patterns/location_top]
synonym: "disorder of tendon sheath" RELATED [MONDO:patterns/location_top]
synonym: "tendon sheath disease" EXACT []
synonym: "tendon sheath disease or disorder" EXACT [MONDO:patterns/location]
synonym: "tendon sheath disorder" EXACT []
xref: ICD9:727.9 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:312381009 {source="MONDO:equivalentTo"}
xref: UMLS:C0729734 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0100010 ! tendinopathy
property_value: exactMatch http://identifiers.org/snomedct/312381009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0729734

[Term]
id: MONDO:0024877
name: clitoris neoplasm
def: "A neoplasm involving a clitoris." [MONDO:patterns/neoplasm]
synonym: "clitoral neoplasm" EXACT []
synonym: "clitoris tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of clitoris" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of clitoris" EXACT [MONDO:patterns/neoplasm]
xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:126925009 {source="MONDO:equivalentTo"}
xref: UMLS:C1263793 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0021049 {source="MONDO:Redundant", source="linkedlifedata"} ! vulvar neoplasm
property_value: exactMatch http://identifiers.org/snomedct/126925009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263793

[Term]
id: MONDO:0024878
name: secondary carcinoma
def: "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36310]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "secondary carcinoma" EXACT [NCIT:C36310]
xref: NCIT:C36310 {source="MONDO:equivalentTo"}
xref: UMLS:C0085668 {source="NCIT:C36310", source="MONDO:equivalentTo"}
is_a: MONDO:0004993 ! carcinoma
is_a: MONDO:0024881 {source="NCIT:C36310"} ! secondary malignant neoplasm
intersection_of: MONDO:0024882 ! secondary neoplasm
intersection_of: disease_arises_from_feature MONDO:0004993 ! carcinoma
relationship: disease_arises_from_feature MONDO:0004993 ! carcinoma
relationship: excluded_subClassOf MONDO:0004993 {source="NCIT:C36310"} ! carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085668
property_value: exactMatch NCIT:C36310

[Term]
id: MONDO:0024879
name: metastatic carcinoma
def: "A carcinoma which has spread from the original site of growth to another anatomic site." [NCIT:C3482]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "metastatic carcinoma" EXACT [NCIT:C3482]
xref: ICDO:8010/6 {source="NCIT:C3482"}
xref: NCIT:C3482 {source="MONDO:equivalentTo"}
xref: UMLS:C1384494 {source="NCIT:C3482", source="MONDO:equivalentTo"}
is_a: MONDO:0024878 {source="MONDO:Redundant", source="NCIT:C3482"} ! secondary carcinoma
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C3482"} ! metastatic malignant neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1384494
property_value: exactMatch NCIT:C3482

[Term]
id: MONDO:0024880
name: metastatic malignant neoplasm
def: "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site." [NCIT:C36263]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "malignant metastatic neoplasm" EXACT []
synonym: "metastatic cancer" EXACT [NCIT:C36263]
synonym: "metastatic malignant neoplasm" EXACT [NCIT:C36263]
synonym: "metastatic neoplasm, malignant" EXACT [MONDO:patterns/malignant]
xref: NCIT:C36263 {source="MONDO:equivalentTo"}
is_a: MONDO:0024881 {source="NCIT:C36263"} ! secondary malignant neoplasm
is_a: MONDO:0024883 {source="MONDO:Redundant", source="NCIT:C36263"} ! metastatic neoplasm
property_value: exactMatch NCIT:C36263

[Term]
id: MONDO:0024881
name: secondary malignant neoplasm
def: "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C4968]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "secondary cancer" EXACT [NCIT:C4968]
synonym: "secondary malignancy" EXACT [NCIT:C4968]
synonym: "secondary malignant neoplasm" EXACT [NCIT:C4968]
xref: ICD9:198.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C4968 {source="MONDO:equivalentTo"}
xref: SCTID:128462008 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="MONDOLEX:0024881", source="NCIT:C4968", source="linkedlifedata"} ! cancer
is_a: MONDO:0024882 {source="NCIT:C4968"} ! secondary neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751623
property_value: exactMatch http://identifiers.org/snomedct/128462008
property_value: exactMatch NCIT:C4968

[Term]
id: MONDO:0024882
name: secondary neoplasm
def: "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36255]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "secondary neoplasm" EXACT [NCIT:C36255]
synonym: "secondary tumor" EXACT [NCIT:C36255]
xref: NCIT:C36255 {source="MONDO:equivalentTo"}
is_a: MONDO:0023370 ! neoplastic disease or syndrome
intersection_of: MONDO:0023370 ! neoplastic disease or syndrome
intersection_of: disease_arises_from_feature MONDO:0005070 ! neoplasm (disease)
relationship: disease_arises_from_feature MONDO:0005070 ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2939419
property_value: exactMatch NCIT:C36255

[Term]
id: MONDO:0024883
name: metastatic neoplasm
def: "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." [NCIT:C3261]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
synonym: "metastatic disease" EXACT [NCIT:C3261]
synonym: "metastatic neoplasm" EXACT [NCIT:C3261]
synonym: "metastatic tumor" EXACT [NCIT:C3261]
xref: ICDO:8000/6 {source="NCIT:C3261"}
xref: NCIT:C3261 {source="MONDO:equivalentTo"}
is_a: MONDO:0024882 ! secondary neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2939420
property_value: exactMatch NCIT:C3261

[Term]
id: MONDO:0024884
name: metastatic carcinoma in the bone
def: "A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate." [NCIT:C36082]
synonym: "metastatic carcinoma in the bone" EXACT [NCIT:C36082]
synonym: "metastatic carcinoma to the bone" EXACT [NCIT:C36082]
xref: NCIT:C36082 {source="MONDO:equivalentTo"}
xref: UMLS:C0700110 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0002415 ! bone carcinoma
is_a: MONDO:0024879 {source="MONDO:Redundant", source="NCIT:C36082"} ! metastatic carcinoma
relationship: disease_arises_from_feature MONDO:0002415 ! bone carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0700110
property_value: exactMatch NCIT:C36082

[Term]
id: MONDO:0024885
name: malignant ovarian serous tumor
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma." [NCIT:C40025]
synonym: "malignant ovarian serous tumor" EXACT [NCIT:C40025]
synonym: "ovarian serous tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: NCIT:C40025 {source="MONDO:equivalentTo"}
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40025"} ! malignant epithelial tumor of ovary
is_a: MONDO:0037255 {source="MONDO:Redundant", source="MONDOLEX:0024885", source="NCIT:C40025"} ! ovarian serous tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518234
property_value: exactMatch NCIT:C40025

[Term]
id: MONDO:0024886
name: serous adenofibroma
def: "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." [NCIT:C67090]
synonym: "serous adenofibroma" EXACT [NCIT:C67090]
xref: ICDO:9014/0 {source="NCIT:C67090"}
xref: NCIT:C67090 {source="MONDO:equivalentTo"}
xref: UMLS:C0334498 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C67090"}
is_a: MONDO:0006071 {source="MONDOLEX:0024886", source="NCIT:C67090"} ! adenofibroma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334498
property_value: exactMatch NCIT:C67090

[Term]
id: MONDO:0024888
name: mesonephric neoplasm
def: "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4295]
synonym: "mesonephric duct neoplasm" EXACT []
synonym: "mesonephric duct tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "mesonephric neoplasm" EXACT [NCIT:C4295]
synonym: "mesonephric tumor" EXACT [NCIT:C4295]
synonym: "Mesonephroma" EXACT [NCIT:C4295]
synonym: "mesonephroma" EXACT [NCIT:C4295]
synonym: "neoplasm of mesonephric duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of mesonephric duct" EXACT [MONDO:patterns/neoplasm]
synonym: "Wolffian duct neoplasm" EXACT [NCIT:C4295]
synonym: "Wolffian duct tumor" EXACT [NCIT:C4295]
xref: ICDO:9110/1 {source="NCIT:C4295"}
xref: NCIT:C4295 {source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="NCIT:C4295"} ! epithelial neoplasm
is_a: MONDO:0021163 ! kidney neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334531
property_value: exactMatch NCIT:C4295

[Term]
id: MONDO:0024889
name: benign mesonephroma
def: "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4294]
synonym: "benign mesonephric neoplasm" EXACT []
synonym: "benign Mesonephroma" EXACT [NCIT:C4294]
synonym: "mesonephric adenoma" EXACT [DOID:2616, NCIT:C4294]
synonym: "mesonephric duct adenoma" EXACT [MONDO:patterns/location]
synonym: "mesonephric neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "Mesonephroma, benign" EXACT [DOID:2616]
synonym: "Mesonephroma, benign (morphologic abnormality)" EXACT [DOID:2616]
synonym: "Wolffian duct adenoma" EXACT [DOID:2616, NCIT:C4294]
xref: DOID:2616 {source="MONDO:equivalentTo"}
xref: ICDO:9110/0 {source="NCIT:C4294"}
xref: NCIT:C4294 {source="MONDO:equivalentTo", source="DOID:2616"}
xref: UMLS:C0334530 {source="NCIT:C4294", source="MONDO:equivalentTo", source="DOID:2616"}
is_a: MONDO:0002513 ! kidney benign neoplasm
is_a: MONDO:0024888 {source="MONDO:Redundant", source="NCIT:C4294"} ! mesonephric neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
relationship: excluded_subClassOf MONDO:0000383 {source="DOID:2616"} ! benign reproductive system neoplasm
property_value: closeMatch http://identifiers.org/snomedct/72889001
property_value: exactMatch DOID:2616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334530
property_value: exactMatch NCIT:C4294

[Term]
id: MONDO:0024890
name: pineal parenchymal cell neoplasm
def: "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" [NCIT:C6965]
synonym: "neoplasm of pineal gland" EXACT [NCIT:C6965]
synonym: "neoplasm of the pineal gland" EXACT [NCIT:C6965]
synonym: "pineal gland neoplasm" EXACT [NCIT:C6965]
synonym: "pineal gland tumor" EXACT [NCIT:C6965]
synonym: "pineal parenchymal cell neoplasm" EXACT [NCIT:C6965]
synonym: "pineal parenchymal cell tumor" EXACT [NCIT:C6965]
synonym: "pineal parenchymal neoplasm" EXACT [NCIT:C6965]
synonym: "pineal parenchymal tumor" EXACT [NCIT:C6965]
synonym: "Pineocytic neoplasm" EXACT [NCIT:C6965]
synonym: "Pineocytic tumor" EXACT [NCIT:C6965]
synonym: "tumor of pineal gland" EXACT [NCIT:C6965]
synonym: "tumor of the pineal gland" EXACT [NCIT:C6965]
xref: ICDO:9360/1 {source="NCIT:C6965"}
xref: NCIT:C6965 {source="MONDO:equivalentTo"}
xref: UMLS:C0031941 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6965"}
is_a: MONDO:0021193 {source="NCIT:C6965"} ! neuroepithelial neoplasm
is_a: MONDO:0021232 {source="NCIT:C6965"} ! pineal body neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031941
property_value: exactMatch NCIT:C6965

[Term]
id: MONDO:0024891
name: non-infectious meningitis
synonym: "non-infective meningitis" EXACT []
xref: SCTID:230155003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021108 {source="linkedlifedata"} ! meningitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/230155003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393442

[Term]
id: MONDO:0024892
name: soft tissue amyloid neoplasm
def: "A soft tissue neoplasm composed of acellular amyloid material." [NCIT:C8323]
synonym: "amyloid neoplasm" EXACT [DOID:6755, NCIT:C8323]
synonym: "amyloid tumor" RELATED [DOID:6755]
synonym: "amyloid tumor (morphologic abnormality)" EXACT [DOID:6755]
synonym: "soft tissue amyloid neoplasm" EXACT [NCIT:C8323]
synonym: "soft tissue amyloid tumor" EXACT [NCIT:C8323]
xref: DOID:6755 {source="EFO:0003114", source="MONDO:equivalentTo"}
xref: ICD9:714.32 {source="MONDO:relatedTo", source="EFO:0003114"}
xref: NCIT:C8323 {source="MONDO:equivalentTo"}
xref: UMLS:C0333572 {source="DOID:6755", source="MONDO:equivalentTo"}
xref: UMLS:C1706802 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C8323", source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C8323"} ! soft tissue neoplasm
is_a: MONDO:0019065 {source="MONDO:Redundant", source="NCIT:C8323"} ! amyloidosis (disease)
intersection_of: MONDO:0006424 {source="NCIT:C8323"} ! soft tissue neoplasm
intersection_of: MONDO:0019065 {source="NCIT:C8323"} ! amyloidosis (disease)
property_value: closeMatch http://identifiers.org/snomedct/37279009
property_value: exactMatch DOID:6755
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0333572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1706802
property_value: exactMatch NCIT:C8323

[Term]
id: MONDO:0024893
name: toxocara canis infection (canine roundworms)
synonym: "Human infection with the larvae of canine or feline roundworms" RELATED [MESH:C531834]
synonym: "Toxocara catis infection (feline roundworms)" RELATED [MESH:C531834]
xref: MESH:C531834 {source="MONDO:equivalentTo"}
xref: UMLS:C2930846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005988 {source="MESH:C531834"} ! toxocariasis
property_value: exactMatch http://identifiers.org/mesh/C531834
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930846

[Term]
id: MONDO:0024905
name: bird disease
def: "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." [MESH:D001715]
synonym: "Avian disease" RELATED [MESH:D001715]
synonym: "Avian diseases" RELATED [MESH:D001715]
synonym: "bird disease" EXACT [MESH:D001715]
synonym: "disease, Avian" RELATED [MESH:D001715]
synonym: "disease, Bird" RELATED [MESH:D001715]
synonym: "diseases, Avian" RELATED [MESH:D001715]
synonym: "diseases, Bird" RELATED [MESH:D001715]
xref: MESH:D001715 {source="MONDO:equivalentTo"}
xref: UMLS:C0005591 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D001715"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D001715
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005591

[Term]
id: MONDO:0024912
name: cat disease
def: "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used." [MESH:D002371]
synonym: "cat disease" EXACT [MESH:D002371]
synonym: "disease, Cat" RELATED [MESH:D002371]
synonym: "disease, Feline" RELATED [MESH:D002371]
synonym: "diseases, Cat" RELATED [MESH:D002371]
synonym: "diseases, Feline" RELATED [MESH:D002371]
synonym: "Feline disease" RELATED [MESH:D002371]
synonym: "Feline diseases" RELATED [MESH:D002371]
xref: MESH:D002371 {source="MONDO:equivalentTo"}
xref: UMLS:C0007350 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D002371"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D002371
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007350

[Term]
id: MONDO:0024913
name: cattle disease
def: "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." [MESH:D002418]
synonym: "bovine disease" RELATED [MESH:D002418]
synonym: "bovine diseases" RELATED [MESH:D002418]
synonym: "cattle disease" EXACT [MESH:D002418]
synonym: "disease, bovine" RELATED [MESH:D002418]
synonym: "disease, cattle" RELATED [MESH:D002418]
synonym: "diseases, bovine" RELATED [MESH:D002418]
synonym: "diseases, cattle" RELATED [MESH:D002418]
xref: MESH:D002418 {source="MONDO:equivalentTo"}
xref: UMLS:C0007453 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D002418"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D002418
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007453

[Term]
id: MONDO:0024919
name: dog disease
def: "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used." [MESH:D004283]
synonym: "canine disease" RELATED [MESH:D004283]
synonym: "canine diseases" RELATED [MESH:D004283]
synonym: "disease, canine" RELATED [MESH:D004283]
synonym: "disease, Dog" RELATED [MESH:D004283]
synonym: "diseases, canine" RELATED [MESH:D004283]
synonym: "diseases, Dog" RELATED [MESH:D004283]
synonym: "dog disease" EXACT [MESH:D004283]
xref: MESH:D004283 {source="MONDO:equivalentTo"}
xref: UMLS:C0012979 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D004283"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D004283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012979

[Term]
id: MONDO:0024934
name: fish disease
def: "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." [MESH:D005393]
synonym: "disease, fish" RELATED [MESH:D005393]
synonym: "diseases, fish" RELATED [MESH:D005393]
synonym: "fish disease" EXACT [MESH:D005393]
xref: MESH:D005393 {source="MONDO:equivalentTo"}
xref: UMLS:C0016154 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D005393"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D005393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016154

[Term]
id: MONDO:0024935
name: foot rot
def: "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" [MESH:D005535]
synonym: "foot Rots" RELATED [MESH:D005535]
synonym: "rot, foot" RELATED [MESH:D005535]
synonym: "Rots, foot" RELATED [MESH:D005535]
xref: MESH:D005535 {source="MONDO:equivalentTo"}
xref: UMLS:C0016513 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D005535"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D005535
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016513

[Term]
id: MONDO:0024945
name: hepatitis, non-human animal
def: "inflammation of the liver in non-human animals." [MESH:D006520]
synonym: "animal Hepatitides" RELATED [MESH:D006520]
synonym: "animal Hepatitis" RELATED [MESH:D006520]
synonym: "Hepatitides, animal" RELATED [MESH:D006520]
xref: MESH:D006520 {source="MONDO:equivalentTo"}
is_a: MONDO:0002251 {source="MESH:D006520"} ! hepatitis
is_a: MONDO:0005583 {source="MESH:D006520"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D006520

[Term]
id: MONDO:0024950
name: horse disease
def: "Diseases of domestic and wild horses of the species Equus caballus." [MESH:D006734]
synonym: "disease, equine" RELATED [MESH:D006734]
synonym: "disease, horse" RELATED [MESH:D006734]
synonym: "diseases, equine" RELATED [MESH:D006734]
synonym: "diseases, horse" RELATED [MESH:D006734]
synonym: "equine disease" RELATED [MESH:D006734]
synonym: "equine diseases" RELATED [MESH:D006734]
synonym: "horse disease" EXACT [MESH:D006734]
xref: MESH:D006734 {source="MONDO:equivalentTo"}
xref: UMLS:C0019940 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D006734"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D006734
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019940

[Term]
id: MONDO:0024953
name: lameness, non-human animal
def: "A departure from the normal gait in animals." [MESH:D007794]
synonym: "animal Gait disorder" RELATED [MESH:D007794]
synonym: "animal Gait disorders" RELATED [MESH:D007794]
synonym: "animal lameness" RELATED [MESH:D007794]
synonym: "animal Lamenesses" RELATED [MESH:D007794]
synonym: "disorder, animal Gait" RELATED [MESH:D007794]
synonym: "disorders, animal Gait" RELATED [MESH:D007794]
synonym: "Gait disorder, animal" RELATED [MESH:D007794]
synonym: "Gait disorders, animal" RELATED [MESH:D007794]
synonym: "Lamenesses, animal" RELATED [MESH:D007794]
xref: MESH:D007794 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D007794"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D007794

[Term]
id: MONDO:0024954
name: larva migrans, visceral
def: "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati." [MESH:D007816]
synonym: "larva Migran, visceral" RELATED [MESH:D007816]
synonym: "Migran, visceral larva" RELATED [MESH:D007816]
synonym: "migrans, visceral larva" RELATED [MESH:D007816]
synonym: "visceral larva Migran" RELATED [MESH:D007816]
synonym: "visceral larva migrans" RELATED [MESH:D007816]
synonym: "visceral larva migrans syndrome" RELATED [MESH:D007816]
xref: MESH:D007816 {source="MONDO:equivalentTo"}
is_a: MONDO:0005988 {source="MESH:D007816"} ! toxocariasis
is_a: MONDO:0018500 {source="MESH:D007816"} ! cutaneous larva migrans
property_value: exactMatch http://identifiers.org/mesh/D007816

[Term]
id: MONDO:0024965
name: muscular dystrophy, non-human animal
synonym: "animal muscular dystrophies" RELATED [MESH:D009137]
synonym: "animal muscular dystrophy" RELATED [MESH:D009137]
synonym: "dystrophies, animal muscular" RELATED [MESH:D009137]
synonym: "dystrophy, animal muscular" RELATED [MESH:D009137]
synonym: "muscular dystrophies, animal" RELATED [MESH:D009137]
xref: MESH:D009137 {source="MONDO:equivalentTo"}
xref: UMLS:C0026851 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D009137"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D009137
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0026851

[Term]
id: MONDO:0024969
name: parasitic disease, non-human animal
def: "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." [MESH:D010273]
synonym: "animal parasitic disease" RELATED [MESH:D010273]
synonym: "animal parasitic diseases" RELATED [MESH:D010273]
synonym: "disease, animal parasitic" RELATED [MESH:D010273]
synonym: "diseases, animal parasitic" RELATED [MESH:D010273]
synonym: "parasitic disease, animal" RELATED [MESH:D010273]
xref: MESH:D010273 {source="MONDO:equivalentTo"}
xref: UMLS:C0030500 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="MESH:D010273", source="MONDOLEX:0024969"} ! parasitic infection
is_a: MONDO:0005583 {source="MESH:D010273", source="MONDOLEX:0024969"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D010273
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030500

[Term]
id: MONDO:0024971
name: parturient paresis
def: "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." [MESH:D010319]
synonym: "animal milk fever" RELATED [MESH:D010319]
synonym: "fever, animal milk" RELATED [MESH:D010319]
synonym: "milk fever, animal" RELATED [MESH:D010319]
synonym: "Pareses, parturient" RELATED [MESH:D010319]
synonym: "paresis, parturient" RELATED [MESH:D010319]
synonym: "parturient Pareses" RELATED [MESH:D010319]
xref: MESH:D010319 {source="MONDO:equivalentTo"}
xref: SCTID:405256006 {source="MONDO:equivalentTo"}
xref: UMLS:C0030612 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D010319"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D010319
property_value: exactMatch http://identifiers.org/snomedct/405256006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030612

[Term]
id: MONDO:0024973
name: pneumonia, atypical interstitial, of cattle
def: "A cattle disease of uncertain cause, probably an allergic reaction." [MESH:D011016]
synonym: "Adenomatoses, bovine pulmonary" RELATED [MESH:D011016]
synonym: "adenomatosis, bovine pulmonary" RELATED [MESH:D011016]
synonym: "adenomatosis, pulmonary, bovine" RELATED [MESH:D011016]
synonym: "atypical interstitial pneumonia of cattle" RELATED [MESH:D011016]
synonym: "bovine pulmonary Adenomatoses" RELATED [MESH:D011016]
synonym: "bovine pulmonary adenomatosis" RELATED [MESH:D011016]
synonym: "emphysema, acute bovine pulmonary" RELATED [MESH:D011016]
synonym: "fever, Fog" RELATED [MESH:D011016]
synonym: "Fog fever" RELATED [MESH:D011016]
synonym: "pulmonary Adenomatoses, bovine" RELATED [MESH:D011016]
synonym: "pulmonary adenomatosis, bovine" RELATED [MESH:D011016]
xref: MESH:D011016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005678 {source="MESH:D011016"} ! bovine respiratory disease complex
property_value: exactMatch http://identifiers.org/mesh/D011016

[Term]
id: MONDO:0024981
name: rodent disease
def: "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." [MESH:D012376]
synonym: "disease, Rodent" RELATED [MESH:D012376]
synonym: "diseases, Rodent" RELATED [MESH:D012376]
synonym: "rodent disease" EXACT [MESH:D012376]
xref: MESH:D012376 {source="MONDO:equivalentTo"}
xref: UMLS:C0035801 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012376"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D012376
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035801

[Term]
id: MONDO:0024982
name: salmonella infections, animal
def: "Infections in animals with bacteria of the genus salmonella." [MESH:D012481]
synonym: "animal Salmonella infection" RELATED [MESH:D012481]
synonym: "animal Salmonella infections" RELATED [MESH:D012481]
synonym: "infection, animal Salmonella" RELATED [MESH:D012481]
synonym: "infections, animal Salmonella" RELATED [MESH:D012481]
synonym: "Salmonella infection, animal" RELATED [MESH:D012481]
xref: MESH:D012481 {source="MONDO:equivalentTo"}
xref: UMLS:C0036118 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000827 {source="MESH:D012481"} ! salmonellosis
is_a: MONDO:0005583 {source="MESH:D012481"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D012481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036118

[Term]
id: MONDO:0024985
name: sheep disease
def: "Diseases of domestic and mountain sheep of the genus Ovis." [MESH:D012757]
synonym: "disease, Ovine" RELATED [MESH:D012757]
synonym: "disease, sheep" RELATED [MESH:D012757]
synonym: "diseases, Ovine" RELATED [MESH:D012757]
synonym: "diseases, sheep" RELATED [MESH:D012757]
synonym: "Ovine disease" RELATED [MESH:D012757]
synonym: "Ovine diseases" RELATED [MESH:D012757]
synonym: "sheep disease" EXACT [MESH:D012757]
xref: MESH:D012757 {source="MONDO:equivalentTo"}
xref: UMLS:C0036946 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012757"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D012757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036946

[Term]
id: MONDO:0024990
name: swine disease
def: "Diseases of domestic swine and of the wild boar of the genus Sus." [MESH:D013553]
synonym: "disease, swine" RELATED [MESH:D013553]
synonym: "diseases, swine" RELATED [MESH:D013553]
synonym: "swine disease" EXACT [MESH:D013553]
xref: MESH:D013553 {source="MONDO:equivalentTo"}
xref: UMLS:C0039006 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D013553"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D013553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039006

[Term]
id: MONDO:0024996
name: obsolete Usher syndrome, type 2b
subset: gard_rare
synonym: "US2B" RELATED [GARD:0005441]
synonym: "USH2B" RELATED [GARD:0005441]
xref: GARD:0005441 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://identifiers.org/omim/276905
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931212
is_obsolete: true
replaced_by: MONDO:0011558

[Term]
id: MONDO:0025003
name: goat disease
def: "Diseases of the domestic or wild goat of the genus Capra." [MESH:D015511]
synonym: "caprine disease" RELATED [MESH:D015511]
synonym: "caprine diseases" RELATED [MESH:D015511]
synonym: "disease, caprine" RELATED [MESH:D015511]
synonym: "disease, goat" RELATED [MESH:D015511]
synonym: "diseases, caprine" RELATED [MESH:D015511]
synonym: "diseases, goat" RELATED [MESH:D015511]
synonym: "goat disease" EXACT [MESH:D015511]
xref: MESH:D015511 {source="MONDO:equivalentTo"}
xref: UMLS:C0018018 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D015511"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D015511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018018

[Term]
id: MONDO:0025013
name: non-human primate disease
def: "Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini." [MESH:D018419]
synonym: "disease, Primate" RELATED [MESH:D018419]
synonym: "diseases, Primate" RELATED [MESH:D018419]
synonym: "Primate disease" RELATED [MESH:D018419]
xref: MESH:D018419 {source="MONDO:equivalentTo"}
xref: UMLS:C0242634 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D018419"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D018419
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242634

[Term]
id: MONDO:0025028
name: vesicular stomatitis
def: "A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." [MESH:D054243]
synonym: "Stomatitides, vesicular" RELATED [MESH:D054243]
synonym: "stomatitis, vesicular" RELATED [MESH:D054243]
synonym: "vesicular Stomatitides" RELATED [MESH:D054243]
xref: MESH:D054243 {source="MONDO:equivalentTo"}
xref: SCTID:36921006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004842 {source="MESH:D054243", source="linkedlifedata"} ! stomatitis
is_a: MONDO:0005583 {source="MESH:D054243"} ! non-human animal disease
is_a: MONDO:0005944 {source="MESH:D054243"} ! Rhabdoviridae infectious disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/mesh/D054243
property_value: exactMatch http://identifiers.org/snomedct/36921006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0266999

[Term]
id: MONDO:0025030
name: digital dermatitis in cattle
def: "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease." [MESH:D058066]
synonym: "bovine digital Dermatitides" RELATED [MESH:D058066]
synonym: "bovine digital dermatitis" RELATED [MESH:D058066]
synonym: "bovine foot wart" RELATED [MESH:D058066]
synonym: "bovine foot Warts" RELATED [MESH:D058066]
synonym: "bovine hairy footwart" RELATED [MESH:D058066]
synonym: "bovine hairy footwarts" RELATED [MESH:D058066]
synonym: "Dermatitides, bovine digital" RELATED [MESH:D058066]
synonym: "Dermatitides, digital" RELATED [MESH:D058066]
synonym: "dermatitis, bovine digital" RELATED [MESH:D058066]
synonym: "dermatitis, digital" RELATED [MESH:D058066]
synonym: "digital Dermatitides" RELATED [MESH:D058066]
synonym: "digital Dermatitides, bovine" RELATED [MESH:D058066]
synonym: "digital Dermatitides, Ovine" RELATED [MESH:D058066]
synonym: "digital Dermatitides, papillomatous" RELATED [MESH:D058066]
synonym: "digital dermatitis, bovine" RELATED [MESH:D058066]
synonym: "digital dermatitis, Ovine" RELATED [MESH:D058066]
synonym: "digital dermatitis, papillomatous" RELATED [MESH:D058066]
synonym: "digital Papillomatoses" RELATED [MESH:D058066]
synonym: "digital papillomatosis" RELATED [MESH:D058066]
synonym: "foot wart, bovine" RELATED [MESH:D058066]
synonym: "foot Warts, bovine" RELATED [MESH:D058066]
synonym: "footwart, bovine hairy" RELATED [MESH:D058066]
synonym: "footwarts, bovine hairy" RELATED [MESH:D058066]
synonym: "hairy footwart, bovine" RELATED [MESH:D058066]
synonym: "hairy footwarts, bovine" RELATED [MESH:D058066]
synonym: "Ovine digital Dermatitides" RELATED [MESH:D058066]
synonym: "Ovine digital dermatitis" RELATED [MESH:D058066]
synonym: "Papillomatoses, digital" RELATED [MESH:D058066]
synonym: "papillomatosis, digital" RELATED [MESH:D058066]
synonym: "papillomatous digital Dermatitides" RELATED [MESH:D058066]
synonym: "papillomatous digital dermatitis" RELATED [MESH:D058066]
synonym: "wart, bovine foot" RELATED [MESH:D058066]
synonym: "Warts, bovine foot" RELATED [MESH:D058066]
xref: MESH:D058066 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D058066"} ! non-human animal disease
is_a: MONDO:0024295 {source="MESH:D058066"} ! skin disease caused by bacterial infection
property_value: exactMatch http://identifiers.org/mesh/D058066

[Term]
id: MONDO:0025061
name: edema disease of swine
def: "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." [MESH:D004488]
synonym: "swine edema disease" RELATED [MESH:D004488]
synonym: "swine edema diseases" RELATED [MESH:D004488]
xref: MESH:D004488 {source="MONDO:equivalentTo"}
xref: UMLS:C0013605 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D004488"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D004488
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0013605

[Term]
id: MONDO:0025062
name: encephalomyelitis, enzootic porcine
def: "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." [MESH:D004682]
synonym: "disease, Talfan" RELATED [MESH:D004682]
synonym: "disease, Teschen" RELATED [MESH:D004682]
synonym: "enzootic porcine encephalomyelitis" RELATED [MESH:D004682]
synonym: "poliomyelitis, porcine" RELATED [MESH:D004682]
synonym: "porcine encephalomyelitis, enzootic" RELATED [MESH:D004682]
synonym: "porcine poliomyelitis" RELATED [MESH:D004682]
synonym: "Talfan disease" RELATED [MESH:D004682]
synonym: "Teschen disease" RELATED [MESH:D004682]
xref: MESH:D004682 {source="MONDO:equivalentTo"}
is_a: MONDO:0005747 {source="MESH:D004682"} ! enterovirus infectious disease
is_a: MONDO:0024990 {source="MESH:D004682"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D004682

[Term]
id: MONDO:0025066
name: epidermitis, exudative, of swine
def: "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" [MESH:D004818]
synonym: "disease, greasy pig" RELATED [MESH:D004818]
synonym: "Epidermitis, exudative of swine" RELATED [MESH:D004818]
synonym: "exudative dermatitis of swine" RELATED [MESH:D004818]
synonym: "greasy pig disease" RELATED [MESH:D004818]
synonym: "swine exudative Dermatitides" RELATED [MESH:D004818]
synonym: "swine exudative dermatitis" RELATED [MESH:D004818]
xref: MESH:D004818 {source="MONDO:equivalentTo"}
xref: UMLS:C0014521 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D004818"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D004818
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014521

[Term]
id: MONDO:0025082
name: helminthiasis, animal
def: "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." [MESH:D006374]
synonym: "animal Helminthiases" RELATED [MESH:D006374]
synonym: "animal helminthiasis" RELATED [MESH:D006374]
synonym: "Helminthiases, animal" RELATED [MESH:D006374]
xref: MESH:D006374 {source="MONDO:equivalentTo"}
xref: UMLS:C0018891 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="MESH:D006374"} ! helminthiasis
is_a: MONDO:0024969 {source="MESH:D006374"} ! parasitic disease, non-human animal
property_value: exactMatch http://identifiers.org/mesh/D006374
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018891

[Term]
id: MONDO:0025085
name: hepatitis, viral, animal
def: "inflammation of the liver in animals due to viral infection." [MESH:D006524]
xref: MESH:D006524 {source="MONDO:equivalentTo"}
is_a: MONDO:0006011 {source="MONDO:Redundant"} ! viral hepatitis
is_a: MONDO:0024945 {source="MESH:D006524"} ! hepatitis, non-human animal
property_value: exactMatch http://identifiers.org/mesh/D006524

[Term]
id: MONDO:0025086
name: hip dysplasia, canine
def: "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." [MESH:D006619]
synonym: "canine hip dysplasia" RELATED [MESH:D006619]
synonym: "dysplasia, canine hip" RELATED [MESH:D006619]
xref: MESH:D006619 {source="MONDO:equivalentTo"}
xref: UMLS:C0019556 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="MESH:D006619"} ! dog disease
property_value: exactMatch http://identifiers.org/mesh/D006619
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019556

[Term]
id: MONDO:0025087
name: classical swine fever
def: "An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality." [MESH:D006691]
synonym: "cholera, Hog" RELATED [MESH:D006691]
synonym: "Hog cholera" RELATED [MESH:D006691]
synonym: "swine fever" RELATED [MESH:D006691]
synonym: "swine fever, classical" RELATED [MESH:D006691]
xref: MESH:D006691 {source="MONDO:equivalentTo"}
xref: UMLS:C0019841 {source="MONDO:equivalentTo"}
is_a: MONDO:0005909 {source="MESH:D006691"} ! pestivirus infectious disease
is_a: MONDO:0024990 {source="MESH:D006691"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D006691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019841

[Term]
id: MONDO:0025089
name: infectious bovine rhinotracheitis
def: "A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract." [MESH:D007241]
synonym: "bovine Rhinotracheitides, infectious" RELATED [MESH:D007241]
synonym: "bovine Rhinotracheitis, infectious" RELATED [MESH:D007241]
synonym: "infectious bovine Rhinotracheitides" RELATED [MESH:D007241]
synonym: "Rhinotracheitides, infectious bovine" RELATED [MESH:D007241]
synonym: "Rhinotracheitis, infectious bovine" RELATED [MESH:D007241]
xref: MESH:D007241 {source="MONDO:equivalentTo"}
xref: UMLS:C0021334 {source="MONDO:equivalentTo"}
is_a: MONDO:0005794 {source="MESH:D007241"} ! Herpesviridae infectious disease
is_a: MONDO:0024913 {source="MESH:D007241"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D007241
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0021334

[Term]
id: MONDO:0025095
name: malaria, avian
def: "Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." [MESH:D008289]
synonym: "Avian malaria" RELATED [MESH:D008289]
synonym: "Avian Malarias" RELATED [MESH:D008289]
synonym: "Malarias, Avian" RELATED [MESH:D008289]
xref: MESH:D008289 {source="MONDO:equivalentTo"}
xref: UMLS:C0024533 {source="MONDO:equivalentTo"}
is_a: MONDO:0005136 {source="MESH:D008289"} ! malaria
is_a: MONDO:0024905 {source="MESH:D008289"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D008289
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024533

[Term]
id: MONDO:0025096
name: malignant catarrh
def: "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." [MESH:D008304]
synonym: "catarrh, malignant" RELATED [MESH:D008304]
synonym: "catarrhal fever, malignant" RELATED [MESH:D008304]
synonym: "catarrhal fevers, malignant" RELATED [MESH:D008304]
synonym: "Catarrhs, malignant" RELATED [MESH:D008304]
synonym: "fever, malignant catarrhal" RELATED [MESH:D008304]
synonym: "fevers, malignant catarrhal" RELATED [MESH:D008304]
synonym: "malignant catarrhal fever" RELATED [MESH:D008304]
synonym: "malignant catarrhal fevers" RELATED [MESH:D008304]
synonym: "malignant Catarrhs" RELATED [MESH:D008304]
xref: MESH:D008304 {source="MONDO:equivalentTo"}
xref: SCTID:24043009 {source="MONDO:equivalentTo"}
xref: UMLS:C0276241 {source="MONDO:equivalentTo"}
is_a: MONDO:0005794 {source="MESH:D008304", source="linkedlifedata/inferred"} ! Herpesviridae infectious disease
is_a: MONDO:0024913 {source="MESH:D008304"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D008304
property_value: exactMatch http://identifiers.org/snomedct/24043009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276241

[Term]
id: MONDO:0025100
name: mastitis, bovine
def: "inflammation of the udder in cows." [MESH:D008414]
synonym: "bovine Mastitides" RELATED [MESH:D008414]
synonym: "bovine mastitis" RELATED [MESH:D008414]
synonym: "Mastitides, bovine" RELATED [MESH:D008414]
xref: EFO:1001765 {source="MONDO:equivalentTo"}
xref: MESH:D008414 {source="MONDO:equivalentTo"}
xref: UMLS:C0024895 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D008414"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D008414
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024895

[Term]
id: MONDO:0025102
name: monkey disease
def: "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases)." [MESH:D008992]
synonym: "disease, monkey" RELATED [MESH:D008992]
synonym: "diseases, monkey" RELATED [MESH:D008992]
synonym: "monkey disease" EXACT [MESH:D008992]
xref: MESH:D008992 {source="MONDO:equivalentTo"}
is_a: MONDO:0025013 {source="MESH:D008992"} ! non-human primate disease
property_value: exactMatch http://identifiers.org/mesh/D008992

[Term]
id: MONDO:0025113
name: poultry disease
def: "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." [MESH:D011201]
synonym: "disease, poultry" RELATED [MESH:D011201]
synonym: "diseases, poultry" RELATED [MESH:D011201]
synonym: "poultry disease" EXACT [MESH:D011201]
xref: MESH:D011201 {source="MONDO:equivalentTo"}
xref: UMLS:C0032851 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D011201"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D011201
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032851

[Term]
id: MONDO:0025114
name: protozoan infections, animal
def: "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." [MESH:D011529]
synonym: "animal protozoan infection" RELATED [MESH:D011529]
synonym: "animal protozoan infections" RELATED [MESH:D011529]
synonym: "infection, animal protozoan" RELATED [MESH:D011529]
synonym: "infections, animal protozoan" RELATED [MESH:D011529]
synonym: "protozoan infection, animal" RELATED [MESH:D011529]
xref: MESH:D011529 {source="MONDO:equivalentTo"}
xref: UMLS:C0033741 {source="MONDO:equivalentTo"}
is_a: MONDO:0002428 {source="MESH:D011529"} ! protozoa infectious disease
is_a: MONDO:0024969 {source="MESH:D011529"} ! parasitic disease, non-human animal
property_value: exactMatch http://identifiers.org/mesh/D011529
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0033741

[Term]
id: MONDO:0025129
name: swine erysipelas
def: "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." [MESH:D013554]
synonym: "erysipelas, swine" RELATED [MESH:D013554]
xref: MESH:D013554 {source="MONDO:equivalentTo"}
xref: UMLS:C0039007 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006751 {source="MESH:D013554"} ! Erysipelothrix infectious disease
is_a: MONDO:0024990 {source="MESH:D013554"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D013554
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039007

[Term]
id: MONDO:0025130
name: swine vesicular disease
def: "An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B." [MESH:D013555]
synonym: "swine vesicular diseases" RELATED [MESH:D013555]
synonym: "vesicular disease, swine" RELATED [MESH:D013555]
synonym: "vesicular diseases, swine" RELATED [MESH:D013555]
xref: MESH:D013555 {source="MONDO:equivalentTo"}
xref: UMLS:C0039010 {source="MONDO:equivalentTo"}
is_a: MONDO:0005747 {source="MESH:D013555"} ! enterovirus infectious disease
is_a: MONDO:0024990 {source="MESH:D013555"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D013555
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0039010

[Term]
id: MONDO:0025135
name: tuberculosis, avian
def: "A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells." [MESH:D014379]
synonym: "Avian Tuberculoses" RELATED [MESH:D014379]
synonym: "Avian tuberculosis" RELATED [MESH:D014379]
synonym: "Tuberculoses, Avian" RELATED [MESH:D014379]
xref: EFO:1001440 {source="MONDO:equivalentTo"}
xref: MESH:D014379 {source="MONDO:equivalentTo"}
xref: UMLS:C0041306 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="MESH:D014379"} ! tuberculosis
is_a: MONDO:0024905 {source="MESH:D014379"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D014379
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041306

[Term]
id: MONDO:0025136
name: tuberculosis, bovine
def: "An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals." [MESH:D014380]
synonym: "bovine Tuberculoses" RELATED [MESH:D014380]
synonym: "bovine tuberculosis" RELATED [MESH:D014380]
synonym: "Tuberculoses, bovine" RELATED [MESH:D014380]
xref: EFO:1001441 {source="MONDO:equivalentTo"}
xref: MESH:D014380 {source="MONDO:equivalentTo"}
xref: UMLS:C0041307 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="MESH:D014380"} ! tuberculosis
is_a: MONDO:0024913 {source="MESH:D014380"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D014380
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041307

[Term]
id: MONDO:0025138
name: vesicular exanthema of swine
def: "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." [MESH:D014720]
synonym: "swine vesicular exanthema" RELATED [MESH:D014720]
synonym: "swine vesicular Exanthemas" RELATED [MESH:D014720]
xref: MESH:D014720 {source="MONDO:equivalentTo"}
xref: UMLS:C0042584 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005687 {source="MESH:D014720"} ! Caliciviridae infectious disease
is_a: MONDO:0024990 {source="MESH:D014720"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D014720
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042584

[Term]
id: MONDO:0025139
name: white muscle disease
def: "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" [MESH:D014912]
synonym: "disease, White muscle" RELATED [MESH:D014912]
synonym: "diseases, White muscle" RELATED [MESH:D014912]
synonym: "muscle disease, White" RELATED [MESH:D014912]
synonym: "muscle diseases, White" RELATED [MESH:D014912]
synonym: "White muscle diseases" RELATED [MESH:D014912]
xref: MESH:D014912 {source="MONDO:equivalentTo"}
xref: UMLS:C0043153 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr79-c91"}
is_a: MONDO:0024965 {source="MESH:D014912"} ! muscular dystrophy, non-human animal
property_value: exactMatch http://identifiers.org/mesh/D014912
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043153

[Term]
id: MONDO:0025149
name: encephalopathy, bovine spongiform
def: "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)" [MESH:D016643]
synonym: "bovine spongiform encephalitis" EXACT [MESH:D016643]
synonym: "bovine spongiform encephalopathy" EXACT [MESH:D016643]
synonym: "BSE (bovine spongiform encephalopathy)" EXACT [MESH:D016643]
synonym: "BSEs (bovine spongiform encephalopathy)" EXACT [MESH:D016643]
synonym: "encephalitis, bovine spongiform" EXACT [MESH:D016643]
synonym: "Mad cow disease" RELATED [MESH:D016643]
synonym: "Mad cow diseases" RELATED [MESH:D016643]
synonym: "spongiform encephalopathy, bovine" EXACT [MESH:D016643]
xref: MESH:D016643 {source="MONDO:equivalentTo"}
is_a: MONDO:0005429 {source="MESH:D016643", source="MONDOLEX:0025149"} ! prion disease
is_a: MONDO:0024913 {source="MESH:D016643"} ! cattle disease
relationship: disease_shares_features_of MONDO:0007012 ! variant Creutzfeldt-Jakob disease
property_value: exactMatch http://identifiers.org/mesh/D016643

[Term]
id: MONDO:0025152
name: non-human ape disease
def: "Diseases of chimpanzees, gorillas, and orangutans." [MESH:D018420]
synonym: "ape disease" RELATED [MESH:D018420]
synonym: "disease, ape" RELATED [MESH:D018420]
synonym: "disease, Pongidae" RELATED [MESH:D018420]
synonym: "diseases, ape" RELATED [MESH:D018420]
synonym: "diseases, Pongidae" RELATED [MESH:D018420]
synonym: "Pongidae disease" RELATED [MESH:D018420]
synonym: "Pongidae diseases" RELATED [MESH:D018420]
xref: MESH:D018420 {source="MONDO:equivalentTo"}
xref: UMLS:C0242635 {source="MONDO:equivalentTo"}
is_a: MONDO:0025013 {source="MESH:D018420"} ! non-human primate disease
property_value: exactMatch http://identifiers.org/mesh/D018420
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0242635

[Term]
id: MONDO:0025155
name: hemorrhagic syndrome, bovine
def: "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality." [MESH:D030243]
synonym: "bovine hemorrhagic syndrome" RELATED [MESH:D030243]
xref: MESH:D030243 {source="MONDO:equivalentTo"}
xref: UMLS:C0950112 {source="MONDO:equivalentTo"}
is_a: MONDO:0005909 {source="MESH:D030243"} ! pestivirus infectious disease
is_a: MONDO:0024913 {source="MESH:D030243"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D030243
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0950112

[Term]
id: MONDO:0025159
name: pneumonia of swine, mycoplasmal
def: "A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection." [MESH:D045729]
synonym: "enzootic pneumonia of pigs" RELATED [MESH:D045729]
synonym: "enzootic pneumonia of swine" RELATED [MESH:D045729]
synonym: "Mycoplasma pneumonia of pigs" RELATED [MESH:D045729]
synonym: "Mycoplasma pneumonia of swine" RELATED [MESH:D045729]
synonym: "Mycoplasmal pneumonia of swine" RELATED [MESH:D045729]
synonym: "pneumonia of swine, enzootic" RELATED [MESH:D045729]
synonym: "swine enzootic pneumonia" RELATED [MESH:D045729]
synonym: "swine Mycoplasma pneumonia" RELATED [MESH:D045729]
synonym: "swine Mycoplasmal pneumonia" RELATED [MESH:D045729]
xref: MESH:D045729 {source="MONDO:equivalentTo"}
xref: UMLS:C1258090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004652 {source="MESH:D045729"} ! bacterial pneumonia
is_a: MONDO:0024990 {source="MESH:D045729"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D045729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1258090

[Term]
id: MONDO:0025163
name: white heifer disease
def: "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." [MESH:D050072]
synonym: "disease, White heifer" RELATED [MESH:D050072]
xref: MESH:D050072 {source="MONDO:equivalentTo"}
xref: SCTID:82642007 {source="MONDO:equivalentTo"}
xref: UMLS:C0043152 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D050072"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D050072
property_value: exactMatch http://identifiers.org/snomedct/82642007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043152

[Term]
id: MONDO:0025167
name: reticuloendotheliosis, avian
def: "A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." [MESH:D055761]
synonym: "Avian Reticuloendothelioses" RELATED [MESH:D055761]
synonym: "Avian reticuloendotheliosis" RELATED [MESH:D055761]
synonym: "Reticuloendothelioses, Avian" RELATED [MESH:D055761]
xref: MESH:D055761 {source="MONDO:equivalentTo"}
xref: UMLS:C0276487 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D055761"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D055761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276487

[Term]
id: MONDO:0025193
name: oculopharyngodistal myopathy
def: "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." [https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy]
subset: gard_rare {source="GARD:0012592"}
subset: ordo_disease {source="Orphanet:98897"}
subset: ordo_inheritance_inconsistent
synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [OMIM:164310]
synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897]
synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310]
synonym: "oculopharyngodistal myopathy; OPDM" EXACT [OMIM:164310]
synonym: "OPDM" EXACT [MONDO:Lexical, OMIM:164310, Orphanet:98897]
xref: GARD:0012592 {source="MONDO:equivalentTo"}
xref: ICD10:G71.0 {source="MONDO:subClassOf", source="Orphanet:98897", source="ORDO:98897/attributed", source="ORDO:98897/ntbt"}
xref: MESH:C563508 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
xref: OMIMPS:164310 {source="MONDO:equivalentTo"}
xref: Orphanet:98897 {source="MONDO:equivalentTo", source="OMIM:164310"}
xref: SCTID:763829004 {source="MONDO:equivalentTo"}
xref: UMLS:C1834014 {source="Orphanet:98897", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:164310"}
is_a: MONDO:0016106 {source="Orphanet:98897"} ! progressive muscular dystrophy
is_a: MONDO:0018949 {source="MONDO:cjm", source="MONDOLEX:0008117", source="Orphanet:98897", source="Orphanet:98897/inferred"} ! distal myopathy
is_a: MONDO:0020169 {source="Orphanet:98897"} ! rare disorder with ptosis
is_a: MONDO:0020259 ! myopathy with eye involvement
property_value: exactMatch http://identifiers.org/mesh/C563508
property_value: exactMatch http://identifiers.org/snomedct/763829004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1834014
property_value: exactMatch Orphanet:98897
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy xsd:anyURI {source="GARD:0012592"}

[Term]
id: MONDO:0025263
name: strongyle infections, equine
def: "Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." [MESH:D013319]
synonym: "equine strongyle infection" RELATED [MESH:D013319]
synonym: "equine strongyle infections" RELATED [MESH:D013319]
synonym: "equine Strongyloses" RELATED [MESH:D013319]
synonym: "equine Strongylosis" RELATED [MESH:D013319]
synonym: "infection, equine strongyle" RELATED [MESH:D013319]
synonym: "infections, equine strongyle" RELATED [MESH:D013319]
synonym: "strongyle infection, equine" RELATED [MESH:D013319]
synonym: "Strongyloses, equine" RELATED [MESH:D013319]
synonym: "Strongylosis, equine" RELATED [MESH:D013319]
xref: MESH:D013319 {source="MONDO:equivalentTo"}
xref: UMLS:C0038459 {source="MONDO:equivalentTo"}
is_a: MONDO:0005973 {source="MESH:D013319"} ! Strongylida infectious disease
is_a: MONDO:0024950 {source="MESH:D013319"} ! horse disease
is_a: MONDO:0025082 {source="MESH:D013319"} ! helminthiasis, animal
property_value: exactMatch http://identifiers.org/mesh/D013319
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038459

[Term]
id: MONDO:0025270
name: toxoplasmosis, non-human animal
def: "Acquired infection of non-human animals by organisms of the genus toxoplasma." [MESH:D014124]
synonym: "animal Toxoplasmoses" RELATED [MESH:D014124]
synonym: "animal toxoplasmosis" RELATED [MESH:D014124]
synonym: "Toxoplasmoses, animal" RELATED [MESH:D014124]
xref: MESH:D014124 {source="MONDO:equivalentTo"}
xref: UMLS:C0040559 {source="MONDO:equivalentTo"}
is_a: MONDO:0005989 {source="MESH:D014124"} ! toxoplasmosis
is_a: MONDO:0025114 {source="MESH:D014124"} ! protozoan infections, animal
property_value: exactMatch http://identifiers.org/mesh/D014124
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0040559

[Term]
id: MONDO:0025271
name: trypanosomiasis, bovine
def: "Infection in cattle caused by various species of trypanosomes." [MESH:D014354]
synonym: "bovine Trypanosomiases" RELATED [MESH:D014354]
synonym: "bovine trypanosomiasis" RELATED [MESH:D014354]
synonym: "Trypanosomiases, bovine" RELATED [MESH:D014354]
xref: MESH:D014354 {source="MONDO:equivalentTo"}
xref: UMLS:C0041230 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000940 {source="MESH:D014354"} ! trypanosomiasis
is_a: MONDO:0024913 {source="MESH:D014354"} ! cattle disease
is_a: MONDO:0025114 {source="MESH:D014354"} ! protozoan infections, animal
property_value: exactMatch http://identifiers.org/mesh/D014354
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041230

[Term]
id: MONDO:0025293
name: poult enteritis mortality syndrome
def: "An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." [MESH:D031261]
synonym: "mortality syndrome, spiking" RELATED [MESH:D031261]
synonym: "spiking mortality syndrome" RELATED [MESH:D031261]
xref: MESH:D031261 {source="MONDO:equivalentTo"}
xref: UMLS:C1135821 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0025113 {source="MESH:D031261"} ! poultry disease
property_value: exactMatch http://identifiers.org/mesh/D031261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135821

[Term]
id: MONDO:0025294
name: tick-borne infectious disease
def: "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." [MESH:D017282]
synonym: "disease, Tick-borne" RELATED [MESH:D017282]
synonym: "diseases, Tick-borne" RELATED [MESH:D017282]
synonym: "infection, Tick-borne" RELATED [MESH:D017282]
synonym: "infections, Tick borne" RELATED [MESH:D017282]
synonym: "infections, Tick-borne" RELATED [MESH:D017282]
synonym: "Tick borne diseases" RELATED [MESH:D017282]
synonym: "Tick borne infections" RELATED [MESH:D017282]
synonym: "Tick-borne disease" RELATED [MESH:D017282]
synonym: "Tick-borne infection" RELATED [MESH:D017282]
synonym: "Tick-borne infections" RELATED [MESH:D017282]
xref: MESH:D017282 {source="MONDO:equivalentTo"}
is_a: MONDO:0100120 ! vector-borne disease
property_value: exactMatch http://identifiers.org/mesh/D017282

[Term]
id: MONDO:0025303
name: anaplasmosis
def: "An disease or disorder caused by infection with Anaplasma." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Anaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Anaplasma disease or disorder" EXACT []
synonym: "Anaplasma infectious disease" EXACT []
xref: SCTID:13906002 {source="MONDO:equivalentTo"}
is_a: MONDO:0006922 {source="MONDO:Redundant"} ! Anaplasmataceae infectious disease
is_a: MONDO:0025294 {source="MONDO:Redundant"} ! tick-borne infectious disease
is_a: MONDO:0044746 ! zoonotic bacterial infection
property_value: exactMatch http://identifiers.org/snomedct/13906002

[Term]
id: MONDO:0025369
name: Nairobi sheep disease
def: "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." [MESH:D009265]
synonym: "disease, Nairobi sheep" RELATED [MESH:D009265]
synonym: "sheep disease, Nairobi" RELATED [MESH:D009265]
xref: MESH:D009265 {source="MONDO:equivalentTo"}
xref: SCTID:24069003 {source="MONDO:equivalentTo"}
xref: UMLS:C0027345 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021641 {source="MESH:D009265", source="linkedlifedata/inferred"} ! Bunyaviridae infectious disease
is_a: MONDO:0024985 {source="MESH:D009265"} ! sheep disease
is_a: MONDO:0025294 {source="MESH:D009265"} ! tick-borne infectious disease
property_value: exactMatch http://identifiers.org/mesh/D009265
property_value: exactMatch http://identifiers.org/snomedct/24069003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027345

[Term]
id: MONDO:0025370
name: urogenital neoplasm
def: "Tumors or cancer of the urogenital system in either the male or the female." [MESH:D014565]
synonym: "genito-urinary neoplasm" RELATED [MESH:D014565]
synonym: "genito-urinary neoplasms" RELATED [MESH:D014565]
synonym: "genitourinary neoplasm" RELATED [MESH:D014565]
synonym: "genitourinary neoplasms" RELATED [MESH:D014565]
synonym: "genitourinary system neoplasm" EXACT []
synonym: "genitourinary system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of genitourinary system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm, genito-urinary" RELATED [MESH:D014565]
synonym: "neoplasm, genitourinary" RELATED [MESH:D014565]
synonym: "neoplasm, urogenital" RELATED [MESH:D014565]
synonym: "neoplasms, genito-urinary" RELATED [MESH:D014565]
synonym: "neoplasms, genitourinary" RELATED [MESH:D014565]
synonym: "neoplasms, urogenital" RELATED [MESH:D014565]
synonym: "tumor of genitourinary system" EXACT [MONDO:patterns/neoplasm]
synonym: "urogenital neoplasm" EXACT [MESH:D014565]
xref: EFO:0003863 {source="MONDO:equivalentTo"}
xref: MESH:D014565 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 ! neoplasm (disease)
is_a: MONDO:0021145 ! disease of genitourinary system
property_value: exactMatch http://identifiers.org/mesh/D014565

[Term]
id: MONDO:0025371
name: Parvoviridae infectious disease
def: "Virus infections caused by the parvoviridae." [MESH:D010322]
synonym: "disease caused by Parvoviridae" RELATED []
synonym: "disease due to Parvoviridae" EXACT []
synonym: "infection, Parvoviridae" RELATED [MESH:D010322]
synonym: "infection, Parvovirus" RELATED [MESH:D010322]
synonym: "infections, Parvoviridae" RELATED [MESH:D010322]
synonym: "infections, Parvovirus" RELATED [MESH:D010322]
synonym: "Parvoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Parvoviridae disease or disorder" EXACT []
synonym: "Parvoviridae infection" RELATED [MESH:D010322]
synonym: "Parvovirus infection" RELATED [MESH:D010322]
synonym: "Parvovirus infections" RELATED [MESH:D010322]
xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D010322 {source="MONDO:equivalentTo"}
xref: SCTID:83223005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
property_value: exactMatch http://identifiers.org/mesh/D010322
property_value: exactMatch http://identifiers.org/snomedct/83223005

[Term]
id: MONDO:0025376
name: African horse sickness
def: "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." [MESH:D000355]
synonym: "African horse Sicknesses" RELATED [MESH:D000355]
synonym: "African Horsesickness" RELATED [MESH:D000355]
synonym: "African Horsesicknesses" RELATED [MESH:D000355]
synonym: "equine plague" RELATED [MESH:D000355]
synonym: "equine Plagues" RELATED [MESH:D000355]
synonym: "horse sickness, African" RELATED [MESH:D000355]
synonym: "horse Sicknesses, African" RELATED [MESH:D000355]
synonym: "Horsesickness, African" RELATED [MESH:D000355]
synonym: "Horsesicknesses, African" RELATED [MESH:D000355]
synonym: "plague, equine" RELATED [MESH:D000355]
synonym: "Plagues, equine" RELATED [MESH:D000355]
synonym: "sickness, African horse" RELATED [MESH:D000355]
synonym: "Sicknesses, African horse" RELATED [MESH:D000355]
xref: MESH:D000355 {source="MONDO:equivalentTo"}
xref: UMLS:C0001748 {source="MONDO:equivalentTo"}
is_a: MONDO:0005939 {source="MESH:D000355"} ! Reoviridae infectious disease
is_a: MONDO:0024950 {source="MESH:D000355"} ! horse disease
property_value: exactMatch http://identifiers.org/mesh/D000355
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001748

[Term]
id: MONDO:0025377
name: African swine fever
def: "A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." [MESH:D000357]
synonym: "swine fever, African" RELATED [MESH:D000357]
synonym: "wart Hog disease" RELATED [MESH:D000357]
synonym: "wart-Hog disease" RELATED [MESH:D000357]
synonym: "wart-Hog diseases" RELATED [MESH:D000357]
xref: MESH:D000357 {source="MONDO:equivalentTo"}
xref: UMLS:C0001752 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D000357"} ! swine disease
is_a: MONDO:0025294 {source="MESH:D000357"} ! tick-borne infectious disease
property_value: exactMatch http://identifiers.org/mesh/D000357
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001752

[Term]
id: MONDO:0025381
name: avian leukosis
def: "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." [MESH:D001353]
synonym: "Avian Leukoses" RELATED [MESH:D001353]
synonym: "leukoses, Avian" RELATED [MESH:D001353]
synonym: "leukosis, Avian" RELATED [MESH:D001353]
xref: MESH:D001353 {source="MONDO:equivalentTo"}
xref: UMLS:C0004421 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D001353"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D001353
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004421

[Term]
id: MONDO:0025382
name: sarcoma, avian
def: "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." [MESH:D001357]
synonym: "Avian sarcoma" RELATED [MESH:D001357]
synonym: "Avian sarcomas" RELATED [MESH:D001357]
synonym: "Rous sarcoma" RELATED [MESH:D001357]
synonym: "sarcoma, Rous" RELATED [MESH:D001357]
synonym: "sarcomas, Avian" RELATED [MESH:D001357]
xref: MESH:D001357 {source="MONDO:equivalentTo"}
is_a: MONDO:0005089 {source="MESH:D001357/inferred"} ! sarcoma
is_a: MONDO:0024905 {source="MESH:D001357"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D001357

[Term]
id: MONDO:0025385
name: bluetongue
def: "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." [MESH:D001819]
synonym: "blue tongue" RELATED [MESH:D001819]
synonym: "tongue, blue" RELATED [MESH:D001819]
xref: MESH:D001819 {source="MONDO:equivalentTo"}
xref: UMLS:C0005866 {source="MONDO:equivalentTo"}
is_a: MONDO:0005939 {source="MESH:D001819"} ! Reoviridae infectious disease
is_a: MONDO:0024985 {source="MESH:D001819"} ! sheep disease
property_value: exactMatch http://identifiers.org/mesh/D001819
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0005866

[Term]
id: MONDO:0025389
name: brucellosis, bovine
def: "A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent." [MESH:D002007]
synonym: "bang disease" RELATED [MESH:D002007]
synonym: "bang's disease" RELATED [MESH:D002007]
synonym: "Bangs disease" RELATED [MESH:D002007]
synonym: "bovine Brucelloses" RELATED [MESH:D002007]
synonym: "bovine brucellosis" RELATED [MESH:D002007]
synonym: "Brucelloses, bovine" RELATED [MESH:D002007]
synonym: "disease, bang" RELATED [MESH:D002007]
synonym: "disease, bang's" RELATED [MESH:D002007]
xref: MESH:D002007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005683 {source="MESH:D002007"} ! brucellosis
is_a: MONDO:0024913 {source="MESH:D002007"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D002007

[Term]
id: MONDO:0025397
name: canine distemper
def: "A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species." [https://en.wikipedia.org/wiki/Canine_distemper]
synonym: "canine distemper" RELATED [MESH:D004216]
synonym: "canine Distempers" RELATED [MESH:D004216]
synonym: "distemper, canine" RELATED [MESH:D004216]
synonym: "Distempers" RELATED [MESH:D004216]
synonym: "Distempers, canine" RELATED [MESH:D004216]
xref: MESH:D004216 {source="MONDO:equivalentTo"}
is_a: MONDO:0005857 ! morbillivirus infectious disease
is_a: MONDO:0024919 {source="MESH:D004216"} ! dog disease
property_value: exactMatch http://identifiers.org/mesh/D004216

[Term]
id: MONDO:0025404
name: coronaviral enteritis of turkeys
def: "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus." [MESH:D004753]
synonym: "Bluecomb of turkeys" EXACT [MESH:D004753]
synonym: "coronaviral enteritis of turkeys" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188183/]
synonym: "enteritis, transmissible, of turkeys" EXACT [MESH:D004753]
synonym: "transmissible enteritis of turkeys" EXACT [MESH:D004753]
xref: MESH:D004753 {source="MONDO:equivalentTo"}
xref: UMLS:C0014342 {source="MONDO:equivalentTo"}
is_a: MONDO:0020753 ! Orthocoronavirinae infectious disease
is_a: MONDO:0025113 {source="MESH:D004753"} ! poultry disease
property_value: exactMatch http://identifiers.org/mesh/D004753
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014342

[Term]
id: MONDO:0025412
name: feline panleukopenia
def: "A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus." [MESH:D005254]
synonym: "agranulocytoses, Feline" RELATED [MESH:D005254]
synonym: "agranulocytosis, Feline" RELATED [MESH:D005254]
synonym: "ataxia, Feline" RELATED [MESH:D005254]
synonym: "ataxias, Feline" RELATED [MESH:D005254]
synonym: "Cat plague" RELATED [MESH:D005254]
synonym: "Cat Plagues" RELATED [MESH:D005254]
synonym: "distemper, Feline" RELATED [MESH:D005254]
synonym: "distempers, Feline" RELATED [MESH:D005254]
synonym: "enteritides, Feline infectious" RELATED [MESH:D005254]
synonym: "enteritis, Feline infectious" RELATED [MESH:D005254]
synonym: "Feline Agranulocytoses" RELATED [MESH:D005254]
synonym: "Feline agranulocytosis" RELATED [MESH:D005254]
synonym: "Feline ataxia" RELATED [MESH:D005254]
synonym: "Feline Ataxias" RELATED [MESH:D005254]
synonym: "Feline distemper" RELATED [MESH:D005254]
synonym: "Feline Distempers" RELATED [MESH:D005254]
synonym: "Feline infectious Enteritides" RELATED [MESH:D005254]
synonym: "Feline infectious enteritis" RELATED [MESH:D005254]
synonym: "Feline Panleukopenias" RELATED [MESH:D005254]
synonym: "fever, show" RELATED [MESH:D005254]
synonym: "fevers, show" RELATED [MESH:D005254]
synonym: "infectious Enteritides, Feline" RELATED [MESH:D005254]
synonym: "infectious enteritis, Feline" RELATED [MESH:D005254]
synonym: "Panleukopenia, Feline" RELATED [MESH:D005254]
synonym: "Panleukopenias, Feline" RELATED [MESH:D005254]
synonym: "plague, Cat" RELATED [MESH:D005254]
synonym: "plagues, Cat" RELATED [MESH:D005254]
synonym: "show fever" RELATED [MESH:D005254]
synonym: "show fevers" RELATED [MESH:D005254]
xref: MESH:D005254 {source="MONDO:equivalentTo"}
xref: UMLS:C0015765 {source="MONDO:equivalentTo"}
is_a: MONDO:0024912 {source="MESH:D005254"} ! cat disease
is_a: MONDO:0025371 {source="MESH:D005254"} ! Parvoviridae infectious disease
property_value: exactMatch http://identifiers.org/mesh/D005254
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015765

[Term]
id: MONDO:0025417
name: fowlpox
def: "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." [MESH:D005586]
synonym: "Bird pox" RELATED [MESH:D005586]
synonym: "Birdpox" RELATED [MESH:D005586]
synonym: "diphtheria, fowl" RELATED [MESH:D005586]
synonym: "Diphtherias, fowl" RELATED [MESH:D005586]
synonym: "epithelioma contagiosum" RELATED [MESH:D005586]
synonym: "fowl diphtheria" RELATED [MESH:D005586]
synonym: "fowl Diphtherias" RELATED [MESH:D005586]
synonym: "fowl pox" RELATED [MESH:D005586]
synonym: "pox, Bird" RELATED [MESH:D005586]
synonym: "pox, fowl" RELATED [MESH:D005586]
synonym: "Variola avium" RELATED [MESH:D005586]
xref: MESH:D005586 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D005586"} ! bird disease
property_value: exactMatch http://identifiers.org/mesh/D005586

[Term]
id: MONDO:0025419
name: furunculosis
def: "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida." [MESH:D005667]
synonym: "boils" RELATED [MESH:D005667]
synonym: "furuncle" RELATED [MESH:D005667]
synonym: "Furuncles" RELATED [MESH:D005667]
synonym: "Furunculoses" RELATED [MESH:D005667]
xref: MESH:D005667 {source="MONDO:equivalentTo"}
xref: NCIT:C34629 {source="MONDO:equivalentTo"}
is_a: MONDO:0024934 {source="MESH:D005667"} ! fish disease
property_value: exactMatch http://identifiers.org/mesh/D005667
property_value: exactMatch NCIT:C34629

[Term]
id: MONDO:0025420
name: gastroenteritis, transmissible, of swine
def: "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus." [MESH:D005761]
synonym: "Gastroenteritides, porcine transmissible" RELATED [MESH:D005761]
synonym: "Gastroenteritides, swine transmissible" RELATED [MESH:D005761]
synonym: "Gastroenteritides, transmissible porcine" RELATED [MESH:D005761]
synonym: "gastroenteritis, porcine transmissible" RELATED [MESH:D005761]
synonym: "gastroenteritis, swine transmissible" RELATED [MESH:D005761]
synonym: "gastroenteritis, transmissible porcine" RELATED [MESH:D005761]
synonym: "gastroenteritis, transmissible, porcine" RELATED [MESH:D005761]
synonym: "porcine Gastroenteritides, transmissible" RELATED [MESH:D005761]
synonym: "porcine gastroenteritis, transmissible" RELATED [MESH:D005761]
synonym: "porcine transmissible Gastroenteritides" RELATED [MESH:D005761]
synonym: "porcine transmissible gastroenteritis" RELATED [MESH:D005761]
synonym: "swine transmissible Gastroenteritides" RELATED [MESH:D005761]
synonym: "swine transmissible gastroenteritis" RELATED [MESH:D005761]
synonym: "transmissible Gastroenteritides, porcine" RELATED [MESH:D005761]
synonym: "transmissible Gastroenteritides, swine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis of swine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis, porcine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis, swine" RELATED [MESH:D005761]
synonym: "transmissible porcine Gastroenteritides" RELATED [MESH:D005761]
synonym: "transmissible porcine gastroenteritis" RELATED [MESH:D005761]
xref: MESH:D005761 {source="MONDO:equivalentTo"}
xref: UMLS:C0017162 {source="MONDO:equivalentTo"}
is_a: MONDO:0020753 ! Orthocoronavirinae infectious disease
is_a: MONDO:0024990 {source="MESH:D005761"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D005761
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0017162

[Term]
id: MONDO:0025425
name: hepatitis, infectious canine
def: "A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea." [MESH:D006522]
synonym: "canine Hepatitides, infectious" RELATED [MESH:D006522]
synonym: "canine Hepatitis, infectious" RELATED [MESH:D006522]
synonym: "canine infectious Hepatitides" RELATED [MESH:D006522]
synonym: "canine infectious Hepatitis" RELATED [MESH:D006522]
synonym: "Hepatitides, canine infectious" RELATED [MESH:D006522]
synonym: "Hepatitides, infectious canine" RELATED [MESH:D006522]
synonym: "Hepatitis, canine infectious" RELATED [MESH:D006522]
synonym: "infectious canine Hepatitides" RELATED [MESH:D006522]
synonym: "infectious canine Hepatitis" RELATED [MESH:D006522]
synonym: "infectious Hepatitides, canine" RELATED [MESH:D006522]
synonym: "infectious Hepatitis, canine" RELATED [MESH:D006522]
xref: MESH:D006522 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="MESH:D006522"} ! dog disease
is_a: MONDO:0025085 {source="MESH:D006522"} ! hepatitis, viral, animal
property_value: exactMatch http://identifiers.org/mesh/D006522

[Term]
id: MONDO:0025431
name: keratoconjunctivitis, infectious
def: "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia." [MESH:D007639]
synonym: "infectious Keratoconjunctivitides" RELATED [MESH:D007639]
synonym: "infectious keratoconjunctivitis" RELATED [MESH:D007639]
synonym: "Keratoconjunctivitides, infectious" RELATED [MESH:D007639]
xref: MESH:D007639 {source="MONDO:equivalentTo"}
xref: UMLS:C0022576 {source="MONDO:equivalentTo"}
is_a: MONDO:0004768 {source="MESH:D007639", source="MONDOLEX:0025431"} ! keratoconjunctivitis
is_a: MONDO:0005583 {source="MESH:D007639"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D007639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022576

[Term]
id: MONDO:0025445
name: Wieacker-Wolff syndrome (spectrum)
comment: Grouping for the X-linked form seen mostly in males and female-restricted
xref: OMIMPS:314580 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:3454-generalized"} ! arthrogryposis multiplex congenita
is_a: MONDO:0020120 {source="Orphanet:3454-generalized"} ! skeletal muscle disease

[Term]
id: MONDO:0025449
name: paratuberculosis
def: "A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis." [MESH:D010283]
synonym: "disease, Johne" RELATED [MESH:D010283]
synonym: "disease, Johne's" RELATED [MESH:D010283]
synonym: "Johne disease" RELATED [MESH:D010283]
synonym: "Johne's disease" RELATED [MESH:D010283]
synonym: "Johnes disease" RELATED [MESH:D010283]
synonym: "Paratuberculoses" RELATED [MESH:D010283]
xref: MESH:D010283 {source="MONDO:equivalentTo"}
xref: UMLS:C0030524 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D010283"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D010283
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0030524

[Term]
id: MONDO:0025453
name: pneumonia, progressive interstitial, of sheep
def: "Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity." [MESH:D011021]
synonym: "Maedi" RELATED [MESH:D011021]
synonym: "progressive interstitial pneumonia of sheep" RELATED [MESH:D011021]
xref: MESH:D011021 {source="MONDO:equivalentTo"}
xref: UMLS:C0032306 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="MESH:D011021"} ! sheep disease
property_value: exactMatch http://identifiers.org/mesh/D011021
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032306

[Term]
id: MONDO:0025457
name: pulmonary adenomatosis, ovine
def: "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus." [MESH:D011648]
synonym: "Adenomatoses, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "Adenomatoses, pulmonary Ovine" RELATED [MESH:D011648]
synonym: "adenomatosis, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "adenomatosis, pulmonary Ovine" RELATED [MESH:D011648]
synonym: "adenomatosis, pulmonary, Ovine" RELATED [MESH:D011648]
synonym: "carcinoma, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "carcinomas, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "Jaagsiekte" RELATED [MESH:D011648]
synonym: "Ovine Adenomatoses, pulmonary" RELATED [MESH:D011648]
synonym: "Ovine adenomatosis, pulmonary" RELATED [MESH:D011648]
synonym: "Ovine pulmonary Adenomatoses" RELATED [MESH:D011648]
synonym: "Ovine pulmonary adenomatosis" RELATED [MESH:D011648]
synonym: "Ovine pulmonary carcinoma" RELATED [MESH:D011648]
synonym: "Ovine pulmonary carcinomas" RELATED [MESH:D011648]
synonym: "pulmonary Adenomatoses, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary carcinoma, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary carcinomas, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary Ovine Adenomatoses" RELATED [MESH:D011648]
synonym: "pulmonary Ovine adenomatosis" RELATED [MESH:D011648]
xref: MESH:D011648 {source="MONDO:equivalentTo"}
xref: UMLS:C0034049 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="MESH:D011648"} ! adenocarcinoma
is_a: MONDO:0024985 {source="MESH:D011648"} ! sheep disease
property_value: exactMatch http://identifiers.org/mesh/D011648
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034049

[Term]
id: MONDO:0025459
name: rinderpest
def: "A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." [MESH:D012301]
synonym: "cattle plague" RELATED [MESH:D012301]
synonym: "plague, cattle" RELATED [MESH:D012301]
xref: MESH:D012301 {source="MONDO:equivalentTo"}
xref: UMLS:C0035637 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012301"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D012301
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035637

[Term]
id: MONDO:0025478
name: venereal tumors, veterinary
def: "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." [MESH:D014685]
synonym: "transmissible venereal tumor" RELATED [MESH:D014685]
synonym: "transmissible venereal tumors" RELATED [MESH:D014685]
synonym: "tumor, transmissible venereal" RELATED [MESH:D014685]
synonym: "tumor, veterinary venereal" RELATED [MESH:D014685]
synonym: "tumors, transmissible venereal" RELATED [MESH:D014685]
synonym: "tumors, veterinary venereal" RELATED [MESH:D014685]
synonym: "venereal tumor, transmissible" RELATED [MESH:D014685]
synonym: "venereal tumor, veterinary" RELATED [MESH:D014685]
synonym: "venereal tumors, transmissible" RELATED [MESH:D014685]
synonym: "veterinary venereal tumor" RELATED [MESH:D014685]
synonym: "veterinary venereal tumors" RELATED [MESH:D014685]
xref: MESH:D014685 {source="MONDO:equivalentTo"}
xref: UMLS:C0042465 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D014685"} ! non-human animal disease
is_a: MONDO:0025370 {source="MESH:D014685"} ! urogenital neoplasm
property_value: exactMatch http://identifiers.org/mesh/D014685
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042465

[Term]
id: MONDO:0025481
name: zoonosis
def: "An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc)." [MESH:D015047, Wikipedia:Zoonosis]
synonym: "disease, zoonotic" RELATED [MESH:D015047]
synonym: "disease, zoonotic infectious" RELATED [MESH:D015047]
synonym: "diseases, zoonotic" RELATED [MESH:D015047]
synonym: "diseases, zoonotic infectious" RELATED [MESH:D015047]
synonym: "infection, zoonotic" RELATED [MESH:D015047]
synonym: "infections, zoonotic" RELATED [MESH:D015047]
synonym: "infectious disease, zoonotic" RELATED [MESH:D015047]
synonym: "infectious diseases, zoonotic" RELATED [MESH:D015047]
synonym: "zoonoses" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "zoonotic disease" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047]
synonym: "zoonotic diseases" EXACT [MESH:D015047]
synonym: "zoonotic infection" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047, NCIT:C35803]
synonym: "zoonotic infections" EXACT [MESH:D015047]
synonym: "zoonotic infectious disease" RELATED [MESH:D015047]
synonym: "zoonotic infectious diseases" RELATED [MESH:D015047]
xref: MESH:D015047 {source="MONDO:equivalentTo"}
xref: NCIT:C35803 {source="MONDO:equivalentTo"}
xref: UMLS:C0043528 {source="MONDO:equivalentTo"}
xref: Wikipedia:Zoonosis
is_a: MONDO:0005550 {source="NCIT:C35803", source="indirect"} ! infectious disease
relationship: excluded_subClassOf MONDO:0005108 {source="MESH:D015047"} ! viral infectious disease
relationship: excluded_subClassOf MONDO:0005135 {source="MESH:D015047"} ! parasitic infection
relationship: excluded_subClassOf MONDO:0005583 {source="MESH:D015047"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D015047
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0043528
property_value: exactMatch NCIT:C35803

[Term]
id: MONDO:0025483
name: mammary neoplasms, animal
def: "Tumors or cancer of the mammary gland in animals (mammary glands, animal)." [MESH:D015674]
synonym: "animal mammary carcinoma" RELATED [MESH:D015674]
synonym: "animal mammary carcinomas" RELATED [MESH:D015674]
synonym: "animal mammary neoplasm" RELATED [MESH:D015674]
synonym: "animal mammary neoplasms" RELATED [MESH:D015674]
synonym: "carcinoma, animal mammary" RELATED [MESH:D015674]
synonym: "carcinomas, animal mammary" RELATED [MESH:D015674]
synonym: "mammary carcinoma, animal" RELATED [MESH:D015674]
synonym: "mammary carcinomas, animal" RELATED [MESH:D015674]
synonym: "mammary neoplasm" RELATED [MESH:D015674]
synonym: "mammary neoplasm, animal" RELATED [MESH:D015674]
synonym: "mammary neoplasms" RELATED [MESH:D015674]
synonym: "neoplasm, animal mammary" RELATED [MESH:D015674]
synonym: "neoplasm, mammary" RELATED [MESH:D015674]
synonym: "neoplasms, animal mammary" RELATED [MESH:D015674]
synonym: "neoplasms, mammary" RELATED [MESH:D015674]
xref: MESH:D015674 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D015674"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D015674

[Term]
id: MONDO:0025484
name: simian acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus." [MESH:D016097]
synonym: "AIDS, Simian" RELATED [MESH:D016097]
synonym: "AIDSs, Simian" RELATED [MESH:D016097]
synonym: "SAIDS" RELATED [MESH:D016097]
synonym: "Simian acquired immune deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian acquired immuno deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian acquired immuno-deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian AIDS" RELATED [MESH:D016097]
synonym: "Simian AIDSs" RELATED [MESH:D016097]
synonym: "Simian immunodeficiency virus caused monkey disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simian immunodeficiency virus monkey disease" EXACT []
xref: MESH:D016097 {source="MONDO:equivalentTo"}
xref: UMLS:C0080151 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disease
is_a: MONDO:0021674 ! post-viral disorder
is_a: MONDO:0025102 {source="MESH:D016097", source="MONDO:Redundant"} ! monkey disease
intersection_of: MONDO:0005046 ! immune system disease
intersection_of: disease_arises_from_feature MONDO:0005163 ! simian immunodeficiency virus infection
relationship: disease_arises_from_feature MONDO:0005163 ! simian immunodeficiency virus infection
property_value: exactMatch http://identifiers.org/mesh/D016097
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0080151

[Term]
id: MONDO:0025485
name: feline acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv)." [MESH:D016181]
comment: Editor note: consider separate class for infectious disease
synonym: "AIDS, Feline" RELATED [MESH:D016181]
synonym: "FAIDS" RELATED [MESH:D016181]
synonym: "Feline acquired immune deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline acquired immuno deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline acquired immuno-deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline AIDS" RELATED [MESH:D016181]
synonym: "Feline immunodeficiency virus cat disease" EXACT []
synonym: "Feline immunodeficiency virus caused cat disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: MESH:D016181 {source="MONDO:equivalentTo"}
xref: UMLS:C0079335 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0022034 ! lentivirus infection
is_a: MONDO:0024912 {source="MESH:D016181", source="MONDO:Redundant"} ! cat disease
property_value: exactMatch http://identifiers.org/mesh/D016181
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0079335

[Term]
id: MONDO:0025487
name: murine acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." [MESH:D016183]
synonym: "AIDS, murine" RELATED [MESH:D016183]
synonym: "MAIDS" RELATED [MESH:D016183]
synonym: "murine acquired immune deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine acquired immuno deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine acquired immuno-deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine AIDS" RELATED [MESH:D016183]
synonym: "murine AIDSs" RELATED [MESH:D016183]
xref: MESH:D016183 {source="MONDO:equivalentTo"}
is_a: MONDO:0024981 {source="MESH:D016183"} ! rodent disease
property_value: exactMatch http://identifiers.org/mesh/D016183

[Term]
id: MONDO:0025488
name: leukemia, feline
def: "A neoplastic disease of cats frequently associated with feline leukemia virus infection." [MESH:D016582]
synonym: "Feline leukemia" RELATED [MESH:D016582]
synonym: "Feline leukemias" RELATED [MESH:D016582]
synonym: "leukemias, Feline" RELATED [MESH:D016582]
xref: MESH:D016582 {source="MONDO:equivalentTo"}
xref: UMLS:C0085164 {source="MONDO:equivalentTo"}
is_a: MONDO:0005059 {source="MESH:D016582"} ! leukemia (disease)
is_a: MONDO:0024912 {source="MESH:D016582"} ! cat disease
property_value: exactMatch http://identifiers.org/mesh/D016582
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085164

[Term]
id: MONDO:0025489
name: enzootic bovine leukosis
def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [MESH:D016583]
synonym: "bovine leukemia" RELATED [MESH:D016583]
synonym: "bovine leukemias" RELATED [MESH:D016583]
synonym: "bovine Leukoses" RELATED [MESH:D016583]
synonym: "bovine Leukoses, enzootic" RELATED [MESH:D016583]
synonym: "bovine leukosis" RELATED [MESH:D016583]
synonym: "bovine leukosis, enzootic" RELATED [MESH:D016583]
synonym: "bovine lymphoma" RELATED [MESH:D016583]
synonym: "bovine Lymphomas" RELATED [MESH:D016583]
synonym: "bovine lymphosarcoma" RELATED [MESH:D016583]
synonym: "bovine Lymphosarcomas" RELATED [MESH:D016583]
synonym: "enzootic bovine Leukoses" RELATED [MESH:D016583]
synonym: "leukemia, bovine" RELATED [MESH:D016583]
synonym: "leukemias, bovine" RELATED [MESH:D016583]
synonym: "leukoses, bovine" RELATED [MESH:D016583]
synonym: "leukoses, enzootic bovine" RELATED [MESH:D016583]
synonym: "leukosis, bovine" RELATED [MESH:D016583]
synonym: "leukosis, enzootic bovine" RELATED [MESH:D016583]
synonym: "lymphoma, bovine" RELATED [MESH:D016583]
synonym: "lymphomas, bovine" RELATED [MESH:D016583]
synonym: "lymphosarcoma, bovine" RELATED [MESH:D016583]
synonym: "lymphosarcomas, bovine" RELATED [MESH:D016583]
xref: EFO:1001315 {source="MONDO:equivalentTo"}
xref: MESH:D016583 {source="MONDO:equivalentTo"}
is_a: MONDO:0005059 {source="MESH:D016583"} ! leukemia (disease)
is_a: MONDO:0024913 {source="MESH:D016583"} ! cattle disease
property_value: exactMatch http://identifiers.org/mesh/D016583

[Term]
id: MONDO:0025491
name: feline infectious peritonitis
def: "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." [MESH:D016766]
synonym: "feline infectious peritonitides" EXACT [MESH:D016766]
synonym: "FIP" EXACT ABBREVIATION [https://www.vet.cornell.edu/departments-centers-and-institutes/cornell-feline-health-center/health-information/feline-health-topics/feline-infectious-peritonitis]
synonym: "infectious peritonitides, feline" EXACT [MESH:D016766]
synonym: "infectious peritonitis, feline" EXACT [MESH:D016766]
synonym: "peritonitis, feline infectious" EXACT [MESH:D016766]
synonym: "peritonitis, infectious, feline" EXACT [MESH:D016766]
xref: MESH:D016766 {source="MONDO:equivalentTo"}
xref: UMLS:C0085306 {source="MONDO:equivalentTo"}
is_a: MONDO:0020753 ! Orthocoronavirinae infectious disease
is_a: MONDO:0024912 {source="MESH:D016766"} ! cat disease
property_value: exactMatch http://identifiers.org/mesh/D016766
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085306

[Term]
id: MONDO:0025494
name: porcine reproductive and respiratory syndrome
def: "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" [MESH:D019318]
synonym: "blue eared pig disease" EXACT [MESH:D019318]
synonym: "blue-eared pig disease" EXACT [MESH:D019318]
synonym: "mystery swine disease" EXACT [MESH:D019318]
synonym: "pig disease, blue-eared" EXACT [MESH:D019318]
synonym: "porcine epidemic abortion and respiratory syndrome" EXACT [MESH:D019318]
synonym: "PRRS" EXACT [MESH:D019318]
synonym: "swine disease, mystery" RELATED [MESH:D019318]
synonym: "swine infertility and respiratory syndrome" EXACT [MESH:D019318]
xref: MESH:D019318 {source="MONDO:equivalentTo"}
xref: UMLS:C0376538 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005876 ! Nidovirales infectious disease
is_a: MONDO:0024990 {source="MESH:D019318"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D019318
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376538

[Term]
id: MONDO:0025505
name: mink viral enteritis
def: "A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route." [MESH:D053489]
synonym: "enteritides, mink viral" EXACT [MESH:D053489]
synonym: "enteritis, infectious, of mink" EXACT [MESH:D053489]
synonym: "enteritis, mink viral" EXACT [MESH:D053489]
synonym: "mink viral enteritides" EXACT [MESH:D053489]
synonym: "viral enteritides, mink" EXACT [MESH:D053489]
synonym: "viral enteritis, mink" EXACT [MESH:D053489]
xref: MESH:D053489 {source="MONDO:equivalentTo"}
xref: UMLS:C1720999 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D053489"} ! non-human animal disease
is_a: MONDO:0025371 {source="MESH:D053489"} ! Parvoviridae infectious disease
property_value: exactMatch http://identifiers.org/mesh/D053489
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1720999

[Term]
id: MONDO:0025506
name: porcine postweaning multisystemic wasting syndrome
def: "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2." [MESH:D053570]
synonym: "postweaning multisystemic wasting syndrome, porcine" RELATED [MESH:D053570]
xref: MESH:D053570 {source="MONDO:equivalentTo"}
xref: UMLS:C1721016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 ! viral infectious disease
is_a: MONDO:0024990 {source="MESH:D053570"} ! swine disease
property_value: exactMatch http://identifiers.org/mesh/D053570
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1721016

[Term]
id: MONDO:0025510
name: pythiosis
def: "A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." [MESH:D058968]
synonym: "human pythiosis" NARROW [GARD:0011989]
synonym: "pythium insidiosum infection" RELATED [GARD:0011989]
xref: EFO:1001410 {source="MONDO:equivalentTo"}
xref: GARD:0011989 {source="MONDO:equivalentTo"}
xref: MESH:D058968 {source="MONDO:equivalentTo"}
xref: UMLS:C0276912 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D058968", source="MESH:D058968/inferred"} ! non-human animal disease
property_value: exactMatch http://identifiers.org/mesh/D058968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276912

[Term]
id: MONDO:0025511
name: inherited neuroendocrine tumor
def: "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847]
synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:271847 {source="MONDO:equivalentTo"}
xref: UMLS:CN202530 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0019041"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN202530
property_value: exactMatch Orphanet:271847

[Term]
id: MONDO:0025512
name: type II hypersensitivity reaction disease
def: "A disease that has its basis in the disruption of type II hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process]
comment: Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22)
synonym: "disorder of type II hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of type II hypersensitivity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "type II hypersensitivity disease" EXACT [MONDO:design_pattern]
xref: EFO:0005809 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 ! autoimmune disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003089

[Term]
id: MONDO:0025513
name: autoimmune urticaria
def: "An autoimmune form of urticaria (disease)." [MONDO:patterns/autoimmune]
synonym: "autoimmune urticaria" EXACT []
synonym: "autoimmune urticaria (disease)" EXACT []
xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:402397006 {source="MONDO:equivalentTo"}
xref: UMLS:C1304191 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005492 ! urticaria (disease)
is_a: MONDO:0017841 ! autoimmune disease with skin involvement
property_value: exactMatch http://identifiers.org/snomedct/402397006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304191

[Term]
id: MONDO:0025514
name: livedoid vasculopathy
def: "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring ( atrophie blanche ) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." [GARD:0012784]
subset: gard_rare
synonym: "idiopathic atrophic blanche" RELATED []
synonym: "livedo reticularis with summer ulcerations" RELATED [GARD:0012784]
synonym: "livedo reticularis with winter ulcerations" RELATED [GARD:0012784]
synonym: "livedo vasculitis" RELATED [GARD:0012784]
synonym: "livedoid vasculitis" EXACT [GARD:0012784]
synonym: "livedoid vasculopathy" EXACT [DOID:0040099]
synonym: "segmental hyalinizing vasculopathy" RELATED [GARD:0012784]
synonym: "white atrophy" RELATED []
xref: DOID:0040099 {source="MONDO:equivalentTo"}
xref: GARD:0012784 {source="MONDO:equivalentTo"}
xref: ICD10:L95.0 {source="MONDO:equivalentTo"}
xref: ICD10CM:L95.0 {source="DOID:0040099"}
xref: ICD9:709.1 {source="GARD:0012784"}
xref: ICD9CM:709.1 {source="DOID:0040099"}
xref: SCTID:238762002 {source="MONDO:equivalentTo"}
xref: UMLS:C0343081 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
is_a: MONDO:0018882 {source="DOID:0040099", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! vasculitis
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch DOID:0040099
property_value: exactMatch http://identifiers.org/snomedct/238762002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343081

[Term]
id: MONDO:0025517
name: shrimp allergy
def: "A allergic disease involving a shrimp food product." [MONDO:patterns/allergy]
synonym: "allergy of shrimp food product" EXACT [MONDO:patterns/allergy]
synonym: "shrimp food product allergic disease" EXACT []
xref: DOID:0040001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000799 {source="DOID:0040001", source="MONDO:Redundant"} ! crustacean allergy
property_value: exactMatch DOID:0040001

[Term]
id: MONDO:0025518
name: aspirin allergy
def: "A allergic disease involving a acetylsalicylic acid." [MONDO:patterns/allergy]
synonym: "acetylsalicylic acid allergic disease" EXACT []
synonym: "acetylsalicylic acid allergy" EXACT [DOID:0040002]
synonym: "allergy of acetylsalicylic acid" EXACT [MONDO:patterns/allergy]
synonym: "ASA allergy" EXACT [DOID:0040002]
xref: DOID:0040002 {source="MONDO:equivalentTo"}
xref: ICD9:995.27 {source="MONDO:relatedTo", source="i2s"}
xref: IEDB:RV {source="DOID:0040002"}
xref: SCTID:293586001 {source="DOID:0040002", source="MONDO:equivalentTo"}
is_a: MONDO:0000775 {source="DOID:0040002"} ! drug allergy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0004058
property_value: exactMatch DOID:0040002
property_value: exactMatch http://identifiers.org/snomedct/293586001

[Term]
id: MONDO:0025556
name: isocyanate induced asthma
synonym: "isocyanates allergic asthma" RELATED [DOID:0040041]
xref: DOID:0040041 {source="MONDO:equivalentTo"}
xref: ICD9:506.3 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:404808000 {source="MONDO:equivalentTo"}
xref: UMLS:C1321273 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004784 {source="DOID:0040041"} ! allergic asthma
property_value: exactMatch DOID:0040041
property_value: exactMatch http://identifiers.org/snomedct/404808000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1321273

[Term]
id: MONDO:0025598
name: pneumonia caused by chlamydia
def: "An pneumonia caused by infection with Chlamydia." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia pneumonia" EXACT []
synonym: "chlamydia pneumonia" EXACT []
synonym: "chlamydial pneumonia" EXACT []
xref: DOID:0040083 {source="MONDO:equivalentTo"}
xref: ICD10:J16.0 {source="DOID:0040083"}
xref: ICD9:483.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:0040083"}
xref: MESH:D061387 {source="MONDO:equivalentTo"}
xref: SCTID:233609002 {source="MONDO:equivalentTo"}
xref: UMLS:C0339959 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005701 {source="linkedlifedata"} ! chlamydia trachomatis infectious disease
is_a: MONDO:0041850 ! pneumonia caused by gram negative bacteria
property_value: exactMatch DOID:0040083
property_value: exactMatch http://identifiers.org/mesh/D061387
property_value: exactMatch http://identifiers.org/snomedct/233609002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339959

[Term]
id: MONDO:0025667
name: limbal stem cell deficiency
subset: ordo_disease
xref: Orphanet:171673 {source="MONDO:EquivalentTo"}
xref: UMLS:C1561989 {source="MONDO:EquivalentTo", source="Orphanet:171673"}
is_a: MONDO:0000942 {source="Orphanet:171673"} ! corneal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1561989
property_value: closeMatch Orphanet:171673

[Term]
id: MONDO:0025956
name: ovarian remnant syndrome
def: "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries ( oophorectomy ). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." [GARD:0007297]
subset: gard_rare
xref: GARD:0007297 {source="MONDO:equivalentTo"}
is_a: MONDO:0005558 ! ovarian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0271614

[Term]
id: MONDO:0026045
name: prurigo nodularis
def: "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma , chronic autoimmune cholestatic hepatitis , HIV infection , severe anemia,or a chronic kidney disease-related itching known as uremic pruritus . Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar ( Lenalidomide ). In some cases, cryotherapy , photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." [GARD:0007480]
subset: gard_rare
xref: GARD:0007480 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 ! skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263353

[Term]
id: MONDO:0026720
name: mitochondrial complex 1 deficiency, nuclear type 12
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12" RELATED [OMIM:301020]
xref: OMIM:301020 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:301020"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4746984
property_value: exactMatch http://identifiers.org/omim/301020

[Term]
id: MONDO:0026721
name: mitochondrial complex 1 deficiency, nuclear type 30
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30" RELATED [OMIM:301021]
xref: OMIM:301021 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:301021"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4746985
property_value: exactMatch http://identifiers.org/omim/301021

[Term]
id: MONDO:0026722
name: Mullegama-Klein-Martinez syndrome
synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS" RELATED [OMIM:301022]
synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022]
xref: OMIM:301022 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:301022"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193008
property_value: exactMatch http://identifiers.org/omim/301022

[Term]
id: MONDO:0026723
name: intellectual developmental disorder, X-linked 108
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108" RELATED [OMIM:301024]
synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024]
xref: OMIM:301024 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193009
property_value: exactMatch http://identifiers.org/omim/301024

[Term]
id: MONDO:0026724
name: Paganini-Miozzo syndrome
synonym: "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" RELATED [OMIM:301025]
synonym: "PAGANINI-MIOZZO SYNDROME; MRXSPM" RELATED [OMIM:301025]
xref: OMIM:301025 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="OMIM:301025"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193010
property_value: exactMatch http://identifiers.org/omim/301025

[Term]
id: MONDO:0026726
name: nephrotic syndrome, type 20
synonym: "NEPHROTIC SYNDROME, TYPE 20; NPHS20" RELATED [OMIM:301028]
xref: OMIM:301028 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193011
property_value: exactMatch http://identifiers.org/omim/301028

[Term]
id: MONDO:0026727
name: Shukla-Vernon syndrome
synonym: "SHUKLA-VERNON SYNDROME; SHUVER" RELATED [OMIM:301029]
xref: OMIM:301029 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:301029"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193146
property_value: exactMatch http://identifiers.org/omim/301029

[Term]
id: MONDO:0026729
name: congenital disorder of glycosylation, type ICC
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC" RELATED [OMIM:301031]
xref: OMIM:301031 {source="MONDO:equivalentTo"}
is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I
property_value: exactMatch http://identifiers.org/omim/301031

[Term]
id: MONDO:0026730
name: Basilicata-Akhtar syndrome
synonym: "BASILICATA-AKHTAR SYNDROME; MRXSBA" RELATED [OMIM:301032]
synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032]
synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032]
xref: OMIM:301032 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="OMIM:301032"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/301032

[Term]
id: MONDO:0026731
name: hypothyroidism, congenital, nongoitrous, 8
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8" RELATED [OMIM:301033]
xref: OMIM:301033 {source="MONDO:equivalentTo"}
is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous
property_value: exactMatch http://identifiers.org/omim/301033

[Term]
id: MONDO:0026732
name: hypothyroidism, congenital, nongoitrous, 9
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9" RELATED [OMIM:301035]
xref: OMIM:301035 {source="MONDO:equivalentTo"}
is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous
property_value: exactMatch http://identifiers.org/omim/301035

[Term]
id: MONDO:0026733
name: intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD" RELATED [OMIM:301039]
synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039]
xref: OMIM:301039 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="OMIM:301039"} ! X-linked syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/301039

[Term]
id: MONDO:0026754
name: obsolete histidinuria-renal tubular defect syndrome
is_obsolete: true
replaced_by: MONDO:0009346

[Term]
id: MONDO:0026782
name: chondrodysplasia punctata 2, X-linked dominant
synonym: "Cdpxd" RELATED [OMIM:302960]
synonym: "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2" RELATED [OMIM:302960]
synonym: "Conradi-Hunermann Syndrome" RELATED [OMIM:302960]
synonym: "Conradi-Hunermann-Happle Syndrome" RELATED [OMIM:302960]
synonym: "Happle Syndrome" RELATED [OMIM:302960]
xref: OMIM:302960 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:302960"} ! disease or disorder
property_value: exactMatch http://identifiers.org/omim/302960

[Term]
id: MONDO:0026856
name: obsolete homosexuality 1
synonym: "HOMOSEXUALITY 1; HMS1" RELATED [OMIM:306995]
synonym: "Sexual Orientation, Male" RELATED [OMIM:306995]
xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1415621
property_value: exactMatch http://identifiers.org/omim/306995
is_obsolete: true

[Term]
id: MONDO:0027026
name: Buschke Lowenstein tumor
def: "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157782/]
subset: gard_rare
synonym: "anogenital type verrucous carcinoma" RELATED [MESH:D062688]
synonym: "Buschke Lowenstein tumor" RELATED [MESH:D062688]
synonym: "Buschke-Lowenstein tumor" RELATED [MESH:D062688]
synonym: "condyloma Acuminatum, Giant" RELATED [MESH:D062688]
synonym: "condyloma Acuminatums, Giant" RELATED [MESH:D062688]
synonym: "GCBL" RELATED [GARD:0009663]
synonym: "Giant condyloma Acuminatum" RELATED [MESH:D062688]
synonym: "giant condyloma acuminatum involving the prepuce and glans penis" NARROW [GARD:0009663]
synonym: "Giant condyloma Acuminatums" RELATED [MESH:D062688]
synonym: "Giant condyloma of Buschke and Lowenstein" RELATED [MESH:D062688]
synonym: "giant condyloma of Buschke and Lowenstein" NARROW [GARD:0009663]
synonym: "Lowenstein tumor, Buschke" RELATED [MESH:D062688]
synonym: "tumor, Buschke Lowenstein" RELATED [MESH:D062688]
synonym: "tumor, Buschke-Lowenstein" RELATED [MESH:D062688]
xref: GARD:0009663 {source="MONDO:equivalentTo"}
xref: MESH:D062688 {source="MONDO:equivalentTo", source="UMLS:C0276264"}
xref: SCTID:402910001 {source="MONDO:equivalentTo"}
xref: UMLS:C0276264 {source="MONDO:equivalentTo"}
is_a: MONDO:0002149 ! reproductive system cancer
is_a: MONDO:0005647 {source="MESH:D062688"} ! anogenital human papillomavirus infection
is_a: MONDO:0006006 {source="MESH:D062688"} ! verrucous carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1274335
property_value: closeMatch NCIT:C6371
property_value: exactMatch http://identifiers.org/mesh/D062688
property_value: exactMatch http://identifiers.org/snomedct/402910001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276264

[Term]
id: MONDO:0027029
name: HHV-6 encephalitis
def: "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture , virus testing, and MRI . EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." [GARD:0009667]
subset: gard_rare
synonym: "Human Herpesvirus 6 encephalitis" RELATED [GARD:0009667]
synonym: "Variant A or HHV-6A" RELATED [GARD:0009667]
synonym: "Variant B or HHV-6B" RELATED [GARD:0009667]
xref: GARD:0009667 {source="MONDO:equivalentTo"}
is_a: MONDO:0005949 ! roseolovirus infectious disease
is_a: MONDO:0006009 ! viral encephalitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1955629

[Term]
id: MONDO:0027048
name: deafness, Y-linked 2
synonym: "DFNY2" EXACT [OMIM:400047]
xref: OMIM:400047 {source="MONDO:equivalentTo"}
is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193013
property_value: exactMatch http://identifiers.org/omim/400047

[Term]
id: MONDO:0027068
name: mitochondrial complex 1 deficiency, mitochondrial type 1
def: "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial complex i deficiency, mitochondrial type 1; MC1DM1" EXACT [OMIM:500014]
xref: OMIM:500014 {source="MONDO:equivalentTo"}
is_a: MONDO:0100134 {source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, mitochondrial type
relationship: excluded_subClassOf MONDO:0000001 {source="OMIM:500014"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4746992
property_value: exactMatch http://identifiers.org/omim/500014

[Term]
id: MONDO:0027069
name: mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1
synonym: "MC5DM1" EXACT [OMIM:500015]
synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1" EXACT [OMIM:500015]
xref: OMIM:500015 {source="MONDO:equivalentTo"}
is_a: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3275684
property_value: exactMatch http://identifiers.org/omim/500015

[Term]
id: MONDO:0027091
name: xanthogranulomatous sialadenitis
subset: gard_rare
synonym: "sialadenitis, xanthogranulomatous" EXACT [GARD:0009739]
synonym: "xanthogranulomatous salivary gland disease" RELATED []
xref: GARD:0009739 {source="MONDO:equivalentTo"}
is_a: MONDO:0006969 ! sialadenitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931315

[Term]
id: MONDO:0027353
name: autosomal recessive dyskeratosis congenita 4
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33." [DOID:0070021]
comment: OMIM combines with with DKCA2
synonym: "DKCB4" EXACT [DOID:0070021, OMIM:613989]
xref: DOID:0070021 {source="MONDO:equivalentTo"}
is_a: MONDO:0015780 {source="DOID:0070021", source="MONDOLEX"} ! dyskeratosis congenita
relationship: disease_shares_features_of MONDO:0013521 ! dyskeratosis congenita, autosomal dominant 2
property_value: exactMatch DOID:0070021

[Term]
id: MONDO:0027407
name: Kleefstra syndrome 1
def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." [DOID:0070075]
synonym: "9q subtelomeric deletion syndrome" EXACT EXCLUDE [DOID:0070075]
synonym: "9q-syndrome" EXACT [DOID:0070075]
synonym: "chromosome 9q34.3 deletion syndrome" EXACT [DOID:0070075]
synonym: "Kleefstra syndrome" BROAD [DOID:0070075]
synonym: "Kleefstra syndrome 1; KLEFS1" EXACT [OMIM:610253]
synonym: "KLEFS1" EXACT [OMIM:610253]
synonym: "obsolete Kleefstra syndrome" RELATED EXCLUDE [DOID:0070075]
xref: DOID:0070075 {source="MONDO:equivalentTo"}
xref: OMIM:610253 {source="DOID:0070075", source="MONDO:equivalentTo"}
is_a: MONDO:0012455 {source="OMIM:610253"} ! Kleefstra syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070075"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0070075
property_value: exactMatch http://identifiers.org/omim/610253

[Term]
id: MONDO:0027416
name: obsolete retinal cone dystrophy 2
subset: gard_rare
synonym: "Cone dystrophy progressive" RELATED [GARD:0010117]
synonym: "Progressive cone degeneration" RELATED [GARD:0010117]
synonym: "RCD2" RELATED [GARD:0010117]
xref: GARD:0010117 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://identifiers.org/omim/601251
is_obsolete: true
replaced_by: MONDO:0011143

[Term]
id: MONDO:0027451
name: autosomal recessive cutis laxa type 2d
def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13." [DOID:0070129]
synonym: "ARCL2D" EXACT [DOID:0070129, OMIM:617403]
synonym: "autosomal recessive cutis laxa type IID" RELATED [DOID:0070129]
synonym: "cutis laxa, autosomal recessive, type 2D" RELATED [OMIM:617403]
synonym: "cutis laxa, autosomal recessive, type IID; ARCL2D" RELATED [OMIM:617403]
xref: DOID:0070129 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070129"}
xref: OMIM:617403 {source="MONDO:equivalentTo", source="DOID:0070129"}
is_a: MONDO:0009054 {source="DOID:0070129", source="MONDOLEX:0027451"} ! autosomal recessive cutis laxa type 2, classic type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479409
property_value: exactMatch DOID:0070129
property_value: exactMatch http://identifiers.org/omim/617403

[Term]
id: MONDO:0027462
name: autosomal recessive cutis laxa type 2c
def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." [DOID:0070140]
synonym: "ARCL2C" RELATED [OMIM:617402]
synonym: "autosomal recessive cutis laxa type IIC" RELATED [DOID:0070140]
synonym: "cutis laxa, autosomal recessive, type 2C" RELATED [OMIM:617402]
synonym: "cutis laxa, autosomal recessive, type IIC; ARCL2C" RELATED [OMIM:617402]
xref: DOID:0070140 {source="MONDO:equivalentTo"}
xref: ICD10:Q82.8 {source="DOID:0070140"}
xref: OMIM:617402 {source="MONDO:equivalentTo", source="DOID:0070140"}
is_a: MONDO:0009054 {source="DOID:0070140", source="MONDOLEX:0027462"} ! autosomal recessive cutis laxa type 2, classic type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479387
property_value: exactMatch DOID:0070140
property_value: exactMatch http://identifiers.org/omim/617402

[Term]
id: MONDO:0027676
name: congenital anomalies of kidney and urinary tract type 2
def: "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CAKUT2" RELATED [DOID:0080207, OMIM:143400]
synonym: "congenital anomalies of kidney and urinary tract 2" RELATED [OMIM:143400]
synonym: "congenital anomalies of kidney and urinary tract 2; CAKUT2" RELATED [OMIM:143400]
synonym: "congenital anomalies of kidney and urinary tract type 2" EXACT [MONDORULE:1, OMIM:143400]
synonym: "congenital anomaly of kidney and urinary tract caused by mutation in TBX18" EXACT [MONDO:design_pattern]
synonym: "hydronephrosis due to Pujo" RELATED [OMIM:143400]
synonym: "multicystic renal dysplasia, bilateral" RELATED [OMIM:143400]
synonym: "pelviureteric junction obstruction" RELATED [OMIM:143400]
synonym: "TBX18 congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ureteropelvic junction obstruction" RELATED [OMIM:143400]
xref: DOID:0080207 {source="MONDO:equivalentTo"}
xref: OMIM:143400 {source="MONDO:equivalentTo", source="DOID:0080207"}
is_a: MONDO:0019719 {source="DOID:0080207", source="MONDO:Redundant", source="OMIM:143400"} ! congenital anomaly of kidney and urinary tract
property_value: exactMatch DOID:0080207
property_value: exactMatch http://identifiers.org/omim/143400

[Term]
id: MONDO:0027694
name: amyotrophic lateral sclerosis type 23
synonym: "ALS23" EXACT [OMIM:617839]
synonym: "amyotrophic lateral sclerosis 23" RELATED [OMIM:617839]
synonym: "amyotrophic lateral sclerosis 23; ALS23" RELATED [OMIM:617839]
xref: DOID:0080225 {source="MONDO:equivalentTo"}
xref: OMIM:617839 {source="MONDO:equivalentTo", source="DOID:0080225"}
xref: UMLS:CN778765 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="DOID:0080225", source="MONDOLEX:0027694", source="OMIM:617839"} ! amyotrophic lateral sclerosis
property_value: exactMatch DOID:0080225
property_value: exactMatch http://identifiers.org/omim/617839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN778765

[Term]
id: MONDO:0027749
name: serpinopathy
subset: ordo_group_of_disorders
xref: Orphanet:250805 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
property_value: exactMatch Orphanet:250805

[Term]
id: MONDO:0027750
name: serpinopathy with toxic serpin polymerization
subset: ordo_group_of_disorders
xref: Orphanet:250808 {source="MONDO:equivalentTo"}
is_a: MONDO:0027749 ! serpinopathy
property_value: exactMatch Orphanet:250808

[Term]
id: MONDO:0027751
name: serpinopathy with loss of serpin function
subset: ordo_group_of_disorders
xref: Orphanet:250811 {source="MONDO:equivalentTo"}
is_a: MONDO:0027749 ! serpinopathy
property_value: exactMatch Orphanet:250811

[Term]
id: MONDO:0027766
name: generalized lipodystrophy
def: "Almost complete absence of subcutaneous and/or visceral adipose tissue." [NCIT:C131815]
synonym: "complete generalized lipodystrophy" EXACT [DOID:0080298, https://en.wikipedia.org/wiki/Acquired_generalized_lipodystrophy]
xref: DOID:0080298 {source="MONDO:equivalentTo"}
xref: HP:0009064 {source="MONDO:otherHierarchy"}
xref: NCIT:C131815 {source="MONDO:equivalentTo"}
xref: UMLS:C4317112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006573 {source="DOID:0080298", source="MONDO:Redundant", source="NCIT:C131815"} ! lipodystrophy (disease)
disjoint_from: MONDO:0027767 ! partial lipodystrophy
property_value: exactMatch DOID:0080298
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4317112
property_value: exactMatch NCIT:C131815

[Term]
id: MONDO:0027767
name: partial lipodystrophy
def: "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body." [NCIT:C131296]
xref: DOID:0080299 {source="MONDO:equivalentTo"}
xref: NCIT:C131296 {source="MONDO:equivalentTo"}
xref: UMLS:C4316789 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006573 {source="DOID:0080299", source="NCIT:C131296"} ! lipodystrophy (disease)
property_value: exactMatch DOID:0080299
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4316789
property_value: exactMatch NCIT:C131296

[Term]
id: MONDO:0027772
name: lung colloid adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." [NCIT:C45512]
synonym: "lung colloid adenocarcinoma" EXACT [NCIT:C45512]
synonym: "lung mucinous cystadenocarcinoma" EXACT [NCIT:C45512]
synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [NCIT:C45512]
synonym: "mucinous lung adenocarcinoma" RELATED [DOID:0080303]
xref: DOID:0080303 {source="MONDO:equivalentTo"}
xref: DOID:0080304 {source="MONDO:equivalentTo"}
xref: NCIT:C45512 {source="MONDO:equivalentTo"}
xref: UMLS:C1708776 {source="MONDO:equivalentTo", source="NCIT:C45512"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="MONDOLEX:0027772", source="NCIT:C45512"} ! mucinous adenocarcinoma
is_a: MONDO:0005061 {source="DOID:0080303", source="DOID:0080304", source="MONDO:Redundant", source="MONDOLEX:0027772", source="NCIT:C45512"} ! lung adenocarcinoma
property_value: exactMatch DOID:0080303
property_value: exactMatch DOID:0080304
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708776
property_value: exactMatch NCIT:C45512

[Term]
id: MONDO:0028226
name: autosomal recessive severe congenital neutropenia
subset: ordo_group_of_disorders
xref: Orphanet:439849 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018542 {source="Orphanet:439849"} ! severe congenital neutropenia
property_value: exactMatch Orphanet:439849

[Term]
id: MONDO:0028618
name: gastroenteric neuroendocrine neoplasm
subset: ordo_group_of_disorders
xref: Orphanet:481508 {source="MONDO:equivalentTo"}
is_a: MONDO:0024503 {source="Orphanet:481508"} ! digestive system neuroendocrine neoplasm
property_value: exactMatch Orphanet:481508

[Term]
id: MONDO:0028737
name: biliary atresia disorder
subset: ordo_group_of_disorders
xref: HP:0005912
xref: Orphanet:498345 {source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="Orphanet:498345"} ! biliary tract disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: exactMatch Orphanet:498345

[Term]
id: MONDO:0028741
name: overgrowth or tall stature syndrome with skeletal involvement
subset: ordo_group_of_disorders
xref: Orphanet:498448 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="Orphanet:498448"} ! primary bone dysplasia
property_value: exactMatch Orphanet:498448

[Term]
id: MONDO:0028742
name: dysostosis with brachydactyly without extraskeletal manifestations
subset: ordo_group_of_disorders
xref: Orphanet:498451 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:498451"} ! syndrome with brachydactyly
property_value: exactMatch Orphanet:498451

[Term]
id: MONDO:0028743
name: dysostosis with brachydactyly with extraskeletal manifestations
subset: ordo_group_of_disorders
xref: Orphanet:498454 {source="MONDO:equivalentTo"}
is_a: MONDO:0019066 {source="Orphanet:498454"} ! syndrome with brachydactyly
property_value: exactMatch Orphanet:498454

[Term]
id: MONDO:0029000
name: poisoning
def: "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." [MESH:D011041]
synonym: "intoxication" RELATED []
synonym: "poisoning syndrome" RELATED []
synonym: "Poisonings" RELATED [MESH:D011041]
xref: EFO:0008546 {source="MONDO:equivalentTo"}
xref: MESH:D011041 {source="MONDO:equivalentTo"}
xref: SCTID:75478009 {source="MONDO:equivalentTo"}
xref: UMLS:C0302332 {source="MONDO:equivalentTo"}
is_a: MONDO:0029001 {source="MESH:D011041"} ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/mesh/D011041
property_value: exactMatch http://identifiers.org/snomedct/75478009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0302332

[Term]
id: MONDO:0029001
name: chemically-induced disorder
def: "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." [MESH:D064419]
synonym: "chemically induced disorders" RELATED [MESH:D064419]
synonym: "chemically-induced disorder" EXACT [MESH:D064419]
synonym: "disorder, chemically-induced" RELATED [MESH:D064419]
synonym: "disorders, chemically-induced" RELATED [MESH:D064419]
xref: MESH:D064419 {source="MONDO:equivalentTo"}
is_a: MONDO:0045028 {source="MONDO:Redundant"} ! radiation or chemically induced disorder
property_value: exactMatch http://identifiers.org/mesh/D064419

[Term]
id: MONDO:0029042
name: obsolete ureteropelvic junction obstruction
xref: DOID:0111145 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch DOID:0111145
is_obsolete: true
replaced_by: HP:0000074

[Term]
id: MONDO:0029130
name: polydactyly, postaxial, type A8
synonym: "PAPA8" RELATED [OMIM:618123]
synonym: "polydactyly, postaxial, type A8; PAPA8" RELATED [OMIM:618123]
xref: OMIM:618123 {source="MONDO:equivalentTo"}
is_a: MONDO:0019673 ! postaxial polydactyly type A (disease)
property_value: exactMatch http://identifiers.org/omim/618123

[Term]
id: MONDO:0029131
name: peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
synonym: "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development; PNRIID" RELATED [OMIM:618124]
synonym: "PNRIID" RELATED [OMIM:618124]
xref: OMIM:618124 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618124

[Term]
id: MONDO:0029132
name: Liddle syndrome 3
synonym: "Liddle syndrome 3; LIDLS3" RELATED [OMIM:618126]
synonym: "LIDLS3" RELATED [OMIM:618126]
xref: OMIM:618126 {source="MONDO:equivalentTo"}
is_a: MONDO:0008323 {source="OMIM:618126"} ! Liddle syndrome
property_value: exactMatch http://identifiers.org/omim/618126

[Term]
id: MONDO:0029133
name: muscular dystrophy, limb-girdle, autosomal dominant 4
synonym: "LGMDD4" RELATED [OMIM:618129]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant 4; LGMDD4" RELATED [OMIM:618129]
synonym: "muscular dystrophy, limb-girdle, type 1I" RELATED [OMIM:618129]
xref: OMIM:618129 {source="MONDO:equivalentTo"}
is_a: MONDO:0015151 ! autosomal dominant limb-girdle muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/618129

[Term]
id: MONDO:0029134
name: severe combined immunodeficiency due to CARMIL2 deficiency
subset: ordo_disease
synonym: "IMD58" RELATED [OMIM:618131]
synonym: "immunodeficiency 58" RELATED [OMIM:618131]
synonym: "immunodeficiency 58; IMD58" RELATED [OMIM:618131]
xref: OMIM:618131 {source="Orphanet:542301", source="MONDO:equivalentTo"}
xref: Orphanet:542301 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015974 ! severe combined immunodeficiency (disease)
is_a: MONDO:0016537 {source="Orphanet:542301"} ! lymphoproliferative syndrome
property_value: exactMatch http://identifiers.org/omim/618131
property_value: exactMatch Orphanet:542301

[Term]
id: MONDO:0029135
name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
synonym: "MDDGC8" RELATED [OMIM:618135]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [OMIM:618135]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8; MDDGC8" RELATED [OMIM:618135]
synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [OMIM:618135]
xref: OMIM:618135 {source="MONDO:equivalentTo"}
is_a: MONDO:0000173 {source="OMIM:618135"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="OMIM:618135"} ! autosomal recessive limb-girdle muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/618135

[Term]
id: MONDO:0029136
name: muscular dystrophy, limb-girdle, autosomal recessive 23
synonym: "LGMDR23" RELATED [OMIM:618138]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 23; LGMDR23" RELATED [OMIM:618138]
xref: OMIM:618138 {source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="OMIM:618138"} ! autosomal recessive limb-girdle muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/618138

[Term]
id: MONDO:0029137
name: deafness, autosomal dominant 74
synonym: "deafness, autosomal dominant 74; DFNA74" RELATED [OMIM:618140]
synonym: "DFNA74" RELATED [OMIM:618140]
xref: OMIM:618140 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618140

[Term]
id: MONDO:0029138
name: epileptic encephalopathy, early infantile, 67
synonym: "EIEE67" RELATED [OMIM:618141]
synonym: "epileptic encephalopathy, early infantile, 67; EIEE67" RELATED [OMIM:618141]
xref: OMIM:618141 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618141"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618141

[Term]
id: MONDO:0029140
name: glycosylphosphatidylinositol biosynthesis defect 18
synonym: "glycosylphosphatidylinositol biosynthesis defect 18; GPIBD18" RELATED [OMIM:618143]
synonym: "GPIBD18" RELATED [OMIM:618143]
xref: OMIM:618143 {source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis
property_value: exactMatch http://identifiers.org/omim/618143

[Term]
id: MONDO:0029141
name: usher syndrome, type 4
synonym: "USH4" RELATED [OMIM:618144]
synonym: "USHER SYNDROME, TYPE IV; USH4" RELATED [OMIM:618144]
xref: OMIM:618144 {source="MONDO:equivalentTo"}
is_a: MONDO:0019501 {source="OMIM:618144"} ! Usher syndrome
property_value: exactMatch http://identifiers.org/omim/618144

[Term]
id: MONDO:0029142
name: deafness, autosomal recessive 111
synonym: "deafness, autosomal recessive 111; DFNB111" RELATED [OMIM:618145]
synonym: "DFNB111" RELATED [OMIM:618145]
xref: OMIM:618145 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618145"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618145

[Term]
id: MONDO:0029143
name: intellectual developmental disorder with hypertelorism and distinctive facies
synonym: "chromosome 14q32 deletion syndrome" RELATED [OMIM:618147]
synonym: "IDDHDF" RELATED [OMIM:618147]
synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF" RELATED [OMIM:618147]
xref: OMIM:618147 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618147

[Term]
id: MONDO:0029144
name: extraoral halitosis due to methanethiol oxidase deficiency
synonym: "EHMTO" RELATED [OMIM:618148]
synonym: "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO" RELATED [OMIM:618148]
synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [OMIM:618148]
synonym: "METHANETHIOL Oxidase Deficiency" RELATED [OMIM:618148]
synonym: "MTO Deficiency" RELATED [OMIM:618148]
xref: OMIM:618148 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: exactMatch http://identifiers.org/omim/618148

[Term]
id: MONDO:0029145
name: orofacial cleft 8
synonym: "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8" RELATED [OMIM:618149]
synonym: "OFC8" RELATED [OMIM:618149]
synonym: "OROFACIAL CLEFT 8; OFC8" RELATED [OMIM:618149]
xref: OMIM:618149 {source="MONDO:equivalentTo"}
is_a: MONDO:0000358 ! orofacial cleft
property_value: exactMatch http://identifiers.org/omim/618149

[Term]
id: MONDO:0029146
name: obsolete Saul-Wilson syndrome
is_obsolete: true
replaced_by: MONDO:0019407

[Term]
id: MONDO:0029147
name: spermatogenic failure 33
synonym: "SPERMATOGENIC FAILURE 33; SPGF33" RELATED [OMIM:618152]
synonym: "SPGF33" RELATED [OMIM:618152]
xref: OMIM:618152 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618152

[Term]
id: MONDO:0029148
name: spermatogenic failure 34
synonym: "SPERMATOGENIC FAILURE 34; SPGF34" RELATED [OMIM:618153]
synonym: "SPGF34" RELATED [OMIM:618153]
xref: OMIM:618153 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618153

[Term]
id: MONDO:0030004
name: autism, susceptibility to, 20
synonym: "autism, susceptibility to, 20" EXACT [OMIM:618830]
synonym: "AUTISM, SUSCEPTIBILITY TO, 20; AUTS20" EXACT [OMIM:618830]
synonym: "AUTS20" EXACT ABBREVIATION [OMIM:618830]
xref: OMIM:618830 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:300425"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005260 ! autism (disease)
property_value: exactMatch http://identifiers.org/omim/618830

[Term]
id: MONDO:0030005
name: epilepsy, early-onset, with or without developmental delay
synonym: "EPEDD" EXACT ABBREVIATION [OMIM:618832]
synonym: "epilepsy, early-onset, with or without developmental delay" EXACT [OMIM:618832]
synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD" EXACT [OMIM:618832]
xref: OMIM:618832 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618832

[Term]
id: MONDO:0030006
name: combined oxidative phosphorylation deficiency 40
synonym: "combined oxidative phosphorylation deficiency 40" EXACT [OMIM:618835]
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40" EXACT [OMIM:618835]
synonym: "COXPD40" EXACT ABBREVIATION [OMIM:618835]
xref: OMIM:618835 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618835"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/618835

[Term]
id: MONDO:0030007
name: combined oxidative phosphorylation deficiency 41
synonym: "combined oxidative phosphorylation deficiency 41" EXACT [OMIM:618838]
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41" EXACT [OMIM:618838]
synonym: "COXPD41" EXACT ABBREVIATION [OMIM:618838]
xref: OMIM:618838 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618838"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/618838

[Term]
id: MONDO:0030008
name: combined oxidative phosphorylation deficiency 42
synonym: "combined oxidative phosphorylation deficiency 42" EXACT [OMIM:618839]
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42" EXACT [OMIM:618839]
synonym: "COXPD42" EXACT ABBREVIATION [OMIM:618839]
xref: OMIM:618839 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618839"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/618839

[Term]
id: MONDO:0030009
name: alopecia-mental retardation syndrome 4
synonym: "alopecia-mental retardation syndrome 4" EXACT [OMIM:618840]
synonym: "ALOPECIA-MENTAL RETARDATION SYNDROME 4; APMR4" EXACT [OMIM:618840]
synonym: "APMR4" EXACT ABBREVIATION [OMIM:618840]
xref: OMIM:618840 {source="MONDO:equivalentTo"}
is_a: MONDO:0008756 {source="OMIM:618840"} ! alopecia - intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/618840

[Term]
id: MONDO:0030010
name: hypogonadotropic hypogonadism 25 with anosmia
synonym: "HH25" EXACT ABBREVIATION [OMIM:618841]
synonym: "hypogonadotropic hypogonadism 25 with anosmia" EXACT [OMIM:618841]
synonym: "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25" EXACT [OMIM:618841]
xref: OMIM:618841 {source="MONDO:equivalentTo"}
is_a: MONDO:0018555 {source="OMIM:618841"} ! hypogonadotropic hypogonadism
property_value: exactMatch http://identifiers.org/omim/618841

[Term]
id: MONDO:0030012
name: Diets-Jongmans syndrome
synonym: "diets-jongmans syndrome" EXACT [OMIM:618846]
synonym: "DIETS-JONGMANS SYNDROME; DIJOS" EXACT [OMIM:618846]
synonym: "DIJOS" EXACT ABBREVIATION [OMIM:618846]
synonym: "Intellectual Developmental Disorder With Distinctive Facial Dysmorphism" EXACT [OMIM:618846]
xref: OMIM:618846 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618846

[Term]
id: MONDO:0030013
name: immunodeficiency 66
synonym: "IMD66" EXACT ABBREVIATION [OMIM:618847]
synonym: "immunodeficiency 66" EXACT [OMIM:618847]
synonym: "IMMUNODEFICIENCY 66; IMD66" EXACT [OMIM:618847]
xref: OMIM:618847 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIM:618847"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/618847

[Term]
id: MONDO:0030014
name: muscular dystrophy, limb-girdle, autosomal recessive 26
synonym: "LGMDR26" EXACT ABBREVIATION [OMIM:618848]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 26" EXACT [OMIM:618848]
synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26" EXACT [OMIM:618848]
xref: OMIM:618848 {source="MONDO:equivalentTo"}
is_a: MONDO:0015152 {source="OMIM:618848"} ! autosomal recessive limb-girdle muscular dystrophy
property_value: exactMatch http://identifiers.org/omim/618848

[Term]
id: MONDO:0030015
name: bone marrow failure syndrome 6
synonym: "BMFS6" EXACT ABBREVIATION [OMIM:618849]
synonym: "bone marrow failure syndrome 6" EXACT [OMIM:618849]
synonym: "BONE MARROW FAILURE SYNDROME 6; BMFS6" EXACT [OMIM:618849]
xref: OMIM:618849 {source="MONDO:equivalentTo"}
is_a: MONDO:0000159 {source="OMIM:618849"} ! bone marrow failure syndrome
property_value: exactMatch http://identifiers.org/omim/618849

[Term]
id: MONDO:0030017
name: combined oxidative phosphorylation deficiency 43
synonym: "combined oxidative phosphorylation deficiency 43" EXACT [OMIM:618851]
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43" EXACT [OMIM:618851]
synonym: "COXPD43" EXACT ABBREVIATION [OMIM:618851]
xref: OMIM:618851 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618851"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/618851

[Term]
id: MONDO:0030018
name: autoinflammation with episodic fever and lymphadenopathy
synonym: "AIEFL" EXACT ABBREVIATION [OMIM:618852]
synonym: "autoinflammation with episodic fever and lymphadenopathy" EXACT [OMIM:618852]
synonym: "AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL" EXACT [OMIM:618852]
synonym: "Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome" EXACT [OMIM:618852]
synonym: "Cria Syndrome" EXACT [OMIM:618852]
xref: OMIM:618852 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618852

[Term]
id: MONDO:0030019
name: anauxetic dysplasia 3
synonym: "anauxetic dysplasia 3" EXACT [OMIM:618853]
synonym: "ANAUXETIC DYSPLASIA 3; ANXD3" EXACT [OMIM:618853]
synonym: "ANXD3" EXACT ABBREVIATION [OMIM:618853]
xref: OMIM:618853 {source="MONDO:equivalentTo"}
is_a: MONDO:0011773 {source="OMIM:618853"} ! anauxetic dysplasia
property_value: exactMatch http://identifiers.org/omim/618853

[Term]
id: MONDO:0030020
name: combined oxidative phosphorylation deficiency 44
synonym: "combined oxidative phosphorylation deficiency 44" EXACT [OMIM:618855]
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44" EXACT [OMIM:618855]
synonym: "COXPD44" EXACT ABBREVIATION [OMIM:618855]
xref: OMIM:618855 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618855"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/618855

[Term]
id: MONDO:0030024
name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
synonym: "NEDASB" EXACT ABBREVIATION [OMIM:618859]
synonym: "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" EXACT [OMIM:618859]
synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; NEDASB" EXACT [OMIM:618859]
xref: OMIM:618859 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618859

[Term]
id: MONDO:0030025
name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures
synonym: "NEDHYMS" EXACT ABBREVIATION [OMIM:618862]
synonym: "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" EXACT [OMIM:618862]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS" EXACT [OMIM:618862]
xref: OMIM:618862 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618862

[Term]
id: MONDO:0030026
name: retinal dystrophy with leukodystrophy
synonym: "RDLKD" EXACT ABBREVIATION [OMIM:618863]
synonym: "retinal dystrophy with leukodystrophy" EXACT [OMIM:618863]
synonym: "RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD" EXACT [OMIM:618863]
xref: OMIM:618863 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618863

[Term]
id: MONDO:0030027
name: tremor, hereditary essential, 6
synonym: "ETM6" EXACT ABBREVIATION [OMIM:618866]
synonym: "tremor, hereditary essential, 6" EXACT [OMIM:618866]
synonym: "TREMOR, HEREDITARY ESSENTIAL, 6; ETM6" EXACT [OMIM:618866]
xref: OMIM:618866 {source="MONDO:equivalentTo"}
is_a: MONDO:0003233 {source="OMIM:618866"} ! essential tremor
property_value: exactMatch http://identifiers.org/omim/618866

[Term]
id: MONDO:0030028
name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
synonym: "CONATOC" EXACT ABBREVIATION [OMIM:618868]
synonym: "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" EXACT [OMIM:618868]
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC" EXACT [OMIM:618868]
xref: OMIM:618868 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618868

[Term]
id: MONDO:0030029
name: skeletal dysplasia, mild, with joint laxity and advanced bone age
synonym: "SDJLABA" EXACT ABBREVIATION [OMIM:618870]
synonym: "skeletal dysplasia, mild, with joint laxity and advanced bone age" EXACT [OMIM:618870]
synonym: "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA" EXACT [OMIM:618870]
xref: OMIM:618870 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618870

[Term]
id: MONDO:0030030
name: Nizon-Isidor syndrome
synonym: "NIZIDS" EXACT ABBREVIATION [OMIM:618872]
synonym: "nizon-isidor syndrome" EXACT [OMIM:618872]
synonym: "NIZON-ISIDOR SYNDROME; NIZIDS" EXACT [OMIM:618872]
xref: OMIM:618872 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618872

[Term]
id: MONDO:0030031
name: lissencephaly 10
synonym: "LIS10" EXACT ABBREVIATION [OMIM:618873]
synonym: "lissencephaly 10" EXACT [OMIM:618873]
synonym: "LISSENCEPHALY 10; LIS10" EXACT [OMIM:618873]
xref: OMIM:618873 {source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="OMIM:618873"} ! lissencephaly spectrum disorders
property_value: exactMatch http://identifiers.org/omim/618873

[Term]
id: MONDO:0030032
name: chromosome 17q11.2 duplication syndrome, 1.4-mb
synonym: "CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB" EXACT [OMIM:618874]
synonym: "Nf1 Microduplication Syndrome" EXACT [OMIM:618874]
xref: OMIM:618874 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618874

[Term]
id: MONDO:0030033
name: seizures, early-onset, with neurodegeneration and brain calcifications
synonym: "seizures, early-onset, with neurodegeneration and brain calcifications" EXACT [OMIM:618875]
synonym: "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC" EXACT [OMIM:618875]
synonym: "SENEBAC" EXACT ABBREVIATION [OMIM:618875]
xref: OMIM:618875 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618875

[Term]
id: MONDO:0030034
name: epilepsy, progressive myoclonic, 11
synonym: "epilepsy, progressive myoclonic, 11" EXACT [OMIM:618876]
synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11" EXACT [OMIM:618876]
synonym: "EPM11" EXACT ABBREVIATION [OMIM:618876]
xref: OMIM:618876 {source="MONDO:equivalentTo"}
is_a: MONDO:0020074 {source="OMIM:618876"} ! progressive myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/618876

[Term]
id: MONDO:0030035
name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
synonym: "LEUDEN" EXACT ABBREVIATION [OMIM:618877]
synonym: "Leuden Syndrome" EXACT [OMIM:618877]
synonym: "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" EXACT [OMIM:618877]
synonym: "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN" EXACT [OMIM:618877]
xref: OMIM:618877 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618877

[Term]
id: MONDO:0030036
name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
synonym: "LEMSPAD" EXACT ABBREVIATION [OMIM:618878]
synonym: "Lemspad Syndrome" EXACT [OMIM:618878]
synonym: "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" EXACT [OMIM:618878]
synonym: "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD" EXACT [OMIM:618878]
xref: OMIM:618878 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618878

[Term]
id: MONDO:0030037
name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 22" EXACT [OMIM:618879]
synonym: "NEDHCAS" EXACT ABBREVIATION [OMIM:618879]
synonym: "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" EXACT [OMIM:618879]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS" EXACT [OMIM:618879]
xref: OMIM:618879 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618879

[Term]
id: MONDO:0030038
name: glaucoma, primary closed-angle
synonym: "glaucoma, primary closed-angle" EXACT [OMIM:618880]
synonym: "GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC" EXACT [OMIM:618880]
synonym: "GLCC" EXACT ABBREVIATION [OMIM:618880]
xref: OMIM:618880 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618880

[Term]
id: MONDO:0030042
name: proteinuria, chronic benign
synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884]
synonym: "proteinuria, chronic benign" EXACT [OMIM:618884]
synonym: "PROTEINURIA, CHRONIC BENIGN; PROCHOB" EXACT [OMIM:618884]
xref: OMIM:618884 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618884

[Term]
id: MONDO:0030043
name: congenital disorder of glycosylation, type iit
synonym: "Cdg Iit" EXACT [OMIM:618885]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T" EXACT [OMIM:618885]
xref: OMIM:618885 {source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="OMIM:618885"} ! congenital disorder of glycosylation type II
property_value: exactMatch http://identifiers.org/omim/618885

[Term]
id: MONDO:0030044
name: pseudo-torch syndrome 3
synonym: "pseudo-torch syndrome 3" EXACT [OMIM:618886]
synonym: "PSEUDO-TORCH SYNDROME 3; PTORCH3" EXACT [OMIM:618886]
synonym: "PTORCH3" EXACT ABBREVIATION [OMIM:618886]
xref: OMIM:618886 {source="MONDO:equivalentTo"}
is_a: MONDO:0009626 {source="OMIM:618886"} ! pseudo-TORCH syndrome
property_value: exactMatch http://identifiers.org/omim/618886

[Term]
id: MONDO:0030045
name: Liberfarb syndrome
synonym: "Liberfarb syndrome" EXACT [OMIM:618889]
synonym: "LIBERFARB SYNDROME; LIBF" EXACT [OMIM:618889]
synonym: "LIBF" EXACT ABBREVIATION [OMIM:618889]
synonym: "Spondyloepimetaphyseal Dysplasia, Liberfarb Type" EXACT [OMIM:618889]
xref: OMIM:618889 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618889

[Term]
id: MONDO:0030046
name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
synonym: "NEDBASS" EXACT ABBREVIATION [OMIM:618890]
synonym: "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" EXACT [OMIM:618890]
synonym: "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS" EXACT [OMIM:618890]
xref: OMIM:618890 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618890

[Term]
id: MONDO:0030047
name: microcephaly, developmental delay, and brittle hair syndrome
synonym: "MDBH" EXACT ABBREVIATION [OMIM:618891]
synonym: "microcephaly, developmental delay, and brittle hair syndrome" EXACT [OMIM:618891]
synonym: "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH" EXACT [OMIM:618891]
xref: OMIM:618891 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618891

[Term]
id: MONDO:0030048
name: harderoporphyria
synonym: "harderoporphyria" EXACT [OMIM:618892]
synonym: "HARDEROPORPHYRIA; HARPO" EXACT [OMIM:618892]
synonym: "HARPO" EXACT ABBREVIATION [OMIM:618892]
xref: OMIM:618892 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618892

[Term]
id: MONDO:0030049
name: 46,xx sex reversal 5
synonym: "46,xx sex reversal 5" EXACT [OMIM:618901]
synonym: "46,XX SEX REVERSAL 5; SRXX5" EXACT [OMIM:618901]
synonym: "SRXX5" EXACT ABBREVIATION [OMIM:618901]
xref: OMIM:618901 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618901

[Term]
id: MONDO:0030051
name: intellectual developmental disorder with autistic features and language delay, with or without seizures
synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906]
synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS" EXACT [OMIM:618906]
xref: OMIM:618906 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618906

[Term]
id: MONDO:0030054
name: epileptic encephalopathy, early infantile, 86
synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910]
synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86; EIEE86" EXACT [OMIM:618910]
xref: OMIM:618910 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618910"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618910

[Term]
id: MONDO:0030055
name: sorbitol dehydrogenase deficiency with peripheral neuropathy
synonym: "Sorbitol Dehydrogenase Deficiency" EXACT [OMIM:618912]
synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [OMIM:618912]
synonym: "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD" EXACT [OMIM:618912]
synonym: "SORDD" EXACT ABBREVIATION [OMIM:618912]
xref: OMIM:618912 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618912

[Term]
id: MONDO:0030056
name: fanconi renotubular syndrome 5
synonym: "fanconi renotubular syndrome 5" EXACT [OMIM:618913]
synonym: "FANCONI RENOTUBULAR SYNDROME 5; FRTS5" EXACT [OMIM:618913]
synonym: "Fanconi Renotubular Syndrome, Acadian Variant" EXACT [OMIM:618913]
synonym: "FRTS5" EXACT ABBREVIATION [OMIM:618913]
xref: OMIM:618913 {source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="OMIM:618913"} ! Fanconi renotubular syndrome
property_value: exactMatch http://identifiers.org/omim/618913

[Term]
id: MONDO:0030057
name: neurodevelopmental, jaw, eye, and digital syndrome
synonym: "NEDJED" EXACT ABBREVIATION [OMIM:618914]
synonym: "neurodevelopmental, jaw, eye, and digital syndrome" EXACT [OMIM:618914]
synonym: "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED" EXACT [OMIM:618914]
xref: OMIM:618914 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618914

[Term]
id: MONDO:0030058
name: deafness, autosomal dominant 77
synonym: "deafness, autosomal dominant 77" EXACT [OMIM:618915]
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77" EXACT [OMIM:618915]
synonym: "DFNA77" EXACT ABBREVIATION [OMIM:618915]
xref: OMIM:618915 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618915

[Term]
id: MONDO:0030059
name: epileptic encephalopathy, early infantile, 87
synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916]
synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87; EIEE87" EXACT [OMIM:618916]
xref: OMIM:618916 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618916"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618916

[Term]
id: MONDO:0030060
name: neurodevelopmental disorder with language impairment and behavioral abnormalities
synonym: "NEDLIB" EXACT ABBREVIATION [OMIM:618917]
synonym: "neurodevelopmental disorder with language impairment and behavioral abnormalities" EXACT [OMIM:618917]
synonym: "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB" EXACT [OMIM:618917]
xref: OMIM:618917 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618917

[Term]
id: MONDO:0030061
name: periventricular nodular heterotopia 9
synonym: "periventricular nodular heterotopia 9" EXACT [OMIM:618918]
synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9" EXACT [OMIM:618918]
synonym: "PVNH9" EXACT ABBREVIATION [OMIM:618918]
xref: OMIM:618918 {source="MONDO:equivalentTo"}
is_a: MONDO:0020341 {source="OMIM:618918"} ! periventricular nodular heterotopia
property_value: exactMatch http://identifiers.org/omim/618918

[Term]
id: MONDO:0030062
name: arrhythmogenic right ventricular dysplasia, familial, 14
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 14" EXACT [OMIM:618920]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 14" EXACT [OMIM:618920]
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14" EXACT [OMIM:618920]
synonym: "ARVD14" EXACT ABBREVIATION [OMIM:618920]
xref: OMIM:618920 {source="MONDO:equivalentTo"}
is_a: MONDO:0016587 {source="OMIM:618920"} ! arrhythmogenic right ventricular cardiomyopathy
property_value: exactMatch http://identifiers.org/omim/618920

[Term]
id: MONDO:0030063
name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
synonym: "NEDSHBA" EXACT ABBREVIATION [OMIM:618922]
synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922]
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA" EXACT [OMIM:618922]
xref: OMIM:618922 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618922

[Term]
id: MONDO:0030064
name: episodic ataxia, type 9
synonym: "EA9" EXACT ABBREVIATION [OMIM:618924]
synonym: "episodic ataxia, type 9" EXACT [OMIM:618924]
synonym: "EPISODIC ATAXIA, TYPE 9; EA9" EXACT [OMIM:618924]
xref: OMIM:618924 {source="MONDO:equivalentTo"}
is_a: MONDO:0016227 {source="OMIM:618924"} ! hereditary episodic ataxia
property_value: exactMatch http://identifiers.org/omim/618924

[Term]
id: MONDO:0030065
name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
synonym: "ACOGS" EXACT ABBREVIATION [OMIM:618929]
synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [OMIM:618929]
synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS" EXACT [OMIM:618929]
xref: OMIM:618929 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618929

[Term]
id: MONDO:0030066
name: granulomatous disease, chronic, autosomal recessive, 5
synonym: "CGD5" EXACT ABBREVIATION [OMIM:618935]
synonym: "granulomatous disease, chronic, autosomal recessive, 5" EXACT [OMIM:618935]
synonym: "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5" EXACT [OMIM:618935]
synonym: "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" EXACT [OMIM:618935]
xref: OMIM:618935 {source="MONDO:equivalentTo"}
is_a: MONDO:0018305 {source="OMIM:618935"} ! chronic granulomatous disease
property_value: exactMatch http://identifiers.org/omim/618935

[Term]
id: MONDO:0030067
name: treacher collins syndrome 4
synonym: "TCS4" EXACT ABBREVIATION [OMIM:618939]
synonym: "treacher collins syndrome 4" EXACT [OMIM:618939]
synonym: "TREACHER COLLINS SYNDROME 4; TCS4" EXACT [OMIM:618939]
xref: OMIM:618939 {source="MONDO:equivalentTo"}
is_a: MONDO:0002457 {source="OMIM:618939"} ! Treacher-Collins syndrome
property_value: exactMatch http://identifiers.org/omim/618939

[Term]
id: MONDO:0030069
name: hyper-IgE recurrent infection syndrome 5, autosomal recessive
synonym: "HIES5" EXACT ABBREVIATION [OMIM:618944]
synonym: "hyper-IgE recurrent infection syndrome 5, autosomal recessive" EXACT [OMIM:618944]
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5" EXACT [OMIM:618944]
xref: OMIM:618944 {source="MONDO:equivalentTo"}
is_a: MONDO:0018037 {source="OMIM:618944"} ! hyper-IgE syndrome
property_value: exactMatch http://identifiers.org/omim/618944

[Term]
id: MONDO:0030070
name: heterotaxy, visceral, 9, autosomal, with male infertility
synonym: "heterotaxy, visceral, 9, autosomal, with male infertility" EXACT [OMIM:618948]
synonym: "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9" EXACT [OMIM:618948]
synonym: "HTX9" EXACT ABBREVIATION [OMIM:618948]
xref: OMIM:618948 {source="MONDO:equivalentTo"}
is_a: MONDO:0018677 {source="OMIM:618948"} ! visceral heterotaxy
property_value: exactMatch http://identifiers.org/omim/618948

[Term]
id: MONDO:0030071
name: retinitis pigmentosa 89
synonym: "retinitis pigmentosa 89" EXACT [OMIM:618955]
synonym: "RETINITIS PIGMENTOSA 89; RP89" EXACT [OMIM:618955]
synonym: "RP89" EXACT ABBREVIATION [OMIM:618955]
xref: OMIM:618955 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618955

[Term]
id: MONDO:0030072
name: epileptic encephalopathy, early infantile, 88
synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959]
synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88; EIEE88" EXACT [OMIM:618959]
xref: OMIM:618959 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618959"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618959

[Term]
id: MONDO:0030073
name: Mitchell syndrome
synonym: "MITCH" EXACT ABBREVIATION [OMIM:618960]
synonym: "Mitchell syndrome" EXACT [OMIM:618960]
synonym: "Mitchell syndrome; MITCH" EXACT [OMIM:618960]
xref: OMIM:618960 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618960

[Term]
id: MONDO:0030074
name: spondylometaphyseal dysplasia with corneal dystrophy
synonym: "SMDCD" EXACT ABBREVIATION [OMIM:618961]
synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:618961]
synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD" EXACT [OMIM:618961]
xref: OMIM:618961 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618961

[Term]
id: MONDO:0030077
name: vertebral, cardiac, renal, and limb defects syndrome 3
synonym: "Congenital Nad Deficiency Disorder 3" EXACT [OMIM:618845]
synonym: "VCRL3" EXACT ABBREVIATION [OMIM:618845]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 3" EXACT [OMIM:618845]
synonym: "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3" EXACT [OMIM:618845]
xref: OMIM:618845 {source="MONDO:equivalentTo"}
is_a: MONDO:0020831 {source="OMIM:618845"} ! congenital vertebral-cardiac-renal anomalies syndrome
property_value: exactMatch http://identifiers.org/omim/618845

[Term]
id: MONDO:0030087
name: diabetes mellitus, permanent neonatal 2
synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [OMIM:618856]
synonym: "diabetes mellitus, permanent neonatal 2" EXACT [OMIM:618856]
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2; PNDM2" EXACT [OMIM:618856]
synonym: "PNDM2" EXACT ABBREVIATION [OMIM:618856]
xref: OMIM:618856 {source="MONDO:equivalentTo"}
is_a: MONDO:0100164 {source="OMIM:618856"} ! permanent neonatal diabetes mellitus
property_value: exactMatch http://identifiers.org/omim/618856

[Term]
id: MONDO:0030088
name: diabetes mellitus, permanent neonatal 3
synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [OMIM:618857]
synonym: "diabetes mellitus, permanent neonatal 3" EXACT [OMIM:618857]
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3; PNDM3" EXACT [OMIM:618857]
synonym: "PNDM3" EXACT ABBREVIATION [OMIM:618857]
xref: OMIM:618857 {source="MONDO:equivalentTo"}
is_a: MONDO:0100164 {source="OMIM:618857"} ! permanent neonatal diabetes mellitus
property_value: exactMatch http://identifiers.org/omim/618857

[Term]
id: MONDO:0030089
name: diabetes mellitus, permanent neonatal 4
synonym: "diabetes mellitus, permanent neonatal 4" EXACT [OMIM:618858]
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4; PNDM4" EXACT [OMIM:618858]
synonym: "PNDM4" EXACT ABBREVIATION [OMIM:618858]
xref: OMIM:618858 {source="MONDO:equivalentTo"}
is_a: MONDO:0100164 {source="OMIM:618858"} ! permanent neonatal diabetes mellitus
property_value: exactMatch http://identifiers.org/omim/618858

[Term]
id: MONDO:0030105
name: galactosemia 4
synonym: "GALAC4" EXACT ABBREVIATION [OMIM:618881]
synonym: "Galactose Mutarotase Deficiency" EXACT [OMIM:618881]
synonym: "galactosemia iv" EXACT [OMIM:618881]
synonym: "GALACTOSEMIA IV; GALAC4" EXACT [OMIM:618881]
xref: OMIM:618881 {source="MONDO:equivalentTo"}
is_a: MONDO:0018116 {source="OMIM:618881"} ! galactosemia
property_value: exactMatch http://identifiers.org/omim/618881

[Term]
id: MONDO:0030116
name: silver-russell syndrome 2
synonym: "silver-russell syndrome 2" EXACT [OMIM:618905]
synonym: "SILVER-RUSSELL SYNDROME 2; SRS2" EXACT [OMIM:618905]
synonym: "SRS2" EXACT ABBREVIATION [OMIM:618905]
synonym: "Uniparental Disomy, Maternal, Chromosome 7" EXACT [OMIM:618905]
xref: OMIM:618905 {source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="OMIM:618905"} ! Silver-Russell syndrome
property_value: exactMatch http://identifiers.org/omim/618905

[Term]
id: MONDO:0030118
name: silver-russell syndrome 4
synonym: "silver-russell syndrome 4" EXACT [OMIM:618907]
synonym: "SILVER-RUSSELL SYNDROME 4; SRS4" EXACT [OMIM:618907]
synonym: "SRS4" EXACT ABBREVIATION [OMIM:618907]
xref: OMIM:618907 {source="MONDO:equivalentTo"}
is_a: MONDO:0008394 {source="OMIM:618907"} ! Silver-Russell syndrome
property_value: exactMatch http://identifiers.org/omim/618907

[Term]
id: MONDO:0030134
name: oculopharyngodistal myopathy 2
synonym: "oculopharyngodistal myopathy 2" EXACT [OMIM:618940]
synonym: "OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2" EXACT [OMIM:618940]
synonym: "OPDM2" EXACT ABBREVIATION [OMIM:618940]
xref: OMIM:618940 {source="MONDO:equivalentTo"}
is_a: MONDO:0025193 {source="OMIM:618940"} ! oculopharyngodistal myopathy
property_value: exactMatch http://identifiers.org/omim/618940

[Term]
id: MONDO:0030502
name: tetrasomy
synonym: "tetrasomy" EXACT [NCIT:C36601]
xref: EFO:1001297 {source="MONDO:equivalentTo"}
xref: MESH:D058670 {source="MONDO:equivalentTo"}
xref: NCIT:C36601 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0333689
property_value: exactMatch http://identifiers.org/mesh/D058670
property_value: exactMatch NCIT:C36601

[Term]
id: MONDO:0030602
name: Klebsiella pneumonia
def: "An pneumonia caused by infection with Klebsiella." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Klebsiella caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "pneumonia caused by Klebsiella pneumoniae" RELATED []
synonym: "pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM_2006:482.0]
synonym: "pneumonia due to Klebsiella pneumoniae (disorder)" EXACT []
xref: DOID:13272 {source="MONDO:equivalentTo"}
xref: ICD10:J15.0 {source="MONDO:equivalentTo", source="DOID:13272"}
xref: ICD9:482.0 {source="MONDO:equivalentTo", source="DOID:13272", source="i2s"}
xref: SCTID:64479007 {source="MONDO:equivalentTo"}
xref: UMLS:C0519030 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0004652 {source="DOID:13272", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial pneumonia
is_a: MONDO:0030603 ! Klebsiella infectious disease
property_value: exactMatch DOID:13272
property_value: exactMatch http://identifiers.org/snomedct/64479007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0519030

[Term]
id: MONDO:0030603
name: Klebsiella infectious disease
def: "Infections with bacteria of the genus KLEBSIELLA." [MESH:D007710]
synonym: "infection, Klebsiella" RELATED [MESH:D007710]
synonym: "infections, Klebsiella" RELATED [MESH:D007710]
synonym: "Klebsiella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Klebsiella disease or disorder" EXACT []
synonym: "Klebsiella infection" RELATED [MESH:D007710]
xref: EFO:1001353 {source="MONDO:equivalentTo"}
xref: GARD:0010085 {source="MONDO:equivalentTo"}
xref: MESH:D007710 {source="MONDO:equivalentTo"}
xref: SCTID:721756002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D007710
property_value: exactMatch http://identifiers.org/snomedct/721756002

[Term]
id: MONDO:0030604
name: cystic partially differentiated nephroblastoma
def: "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." [NCIT:C6897]
synonym: "cystic partially differentiated nephroblastoma" EXACT [NCIT:C6897]
synonym: "malignant cystic nephroma" EXACT [NCI2004_11_17:C7505, NCIT:C6897]
synonym: "malignant multilocular cystic nephroma" EXACT [NCI2004_11_17:C6898, NCIT:C6897]
xref: DOID:7571 {source="MONDO:equivalentTo"}
xref: ICDO:8959/1 {source="NCIT:C6897"}
xref: ICDO:8959/3 {source="NCIT:C6897"}
xref: NCIT:C6897 {source="MONDO:equivalentTo"}
xref: UMLS:C1266139 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6897"}
is_a: MONDO:0004356 {source="NCIT:C6897"} ! childhood multilocular cystic kidney neoplasm
is_a: MONDO:0024676 {source="NCIT:C6897"} ! childhood kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0002367 {source="DOID:7571"} ! kidney cancer
property_value: exactMatch DOID:7571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1266139
property_value: exactMatch NCIT:C6897

[Term]
id: MONDO:0030700
name: autoimmune glomerulonephritis
def: "An autoimmune form of glomerulonephritis (disease)." [MONDO:patterns/autoimmune]
synonym: "autoimmune glomerulonephritis (disease)" EXACT []
xref: DOID:0040094 {source="MONDO:equivalentTo"}
is_a: MONDO:0000601 {source="DOID:0040094"} ! autoimmune disease of urogenital tract
is_a: MONDO:0002462 ! glomerulonephritis (disease)
property_value: exactMatch DOID:0040094

[Term]
id: MONDO:0030701
name: autoimmune cardiomyopathy
def: "An autoimmune form of cardiomyopathy." [MONDO:patterns/autoimmune]
xref: DOID:0040095 {source="MONDO:equivalentTo"}
is_a: MONDO:0000589 ! autoimmune disease of musculoskeletal system
is_a: MONDO:0000603 {source="DOID:0040095", source="MONDO:Redundant"} ! autoimmune disease of cardiovascular system
is_a: MONDO:0004994 ! cardiomyopathy
property_value: exactMatch DOID:0040095

[Term]
id: MONDO:0030702
name: autoimmune atherosclerosis
def: "An autoimmune form of atherosclerosis." [MONDO:patterns/autoimmune]
xref: DOID:0040096 {source="MONDO:equivalentTo"}
is_a: MONDO:0000603 {source="DOID:0040096", source="MONDO:Redundant"} ! autoimmune disease of cardiovascular system
is_a: MONDO:0005311 ! atherosclerosis
property_value: exactMatch DOID:0040096

[Term]
id: MONDO:0030703
name: autoimmune vasculitis
def: "An autoimmune form of vasculitis." [MONDO:patterns/autoimmune]
xref: DOID:0040097 {source="MONDO:equivalentTo"}
xref: SCTID:427213005 {source="MONDO:equivalentTo"}
xref: UMLS:C1328843 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0040097"}
is_a: MONDO:0000603 {source="DOID:0040097", source="MONDO:Redundant"} ! autoimmune disease of cardiovascular system
is_a: MONDO:0006794 ! hypersensitivity vasculitis
property_value: closeMatch http://identifiers.org/snomedct/2662170019
property_value: exactMatch DOID:0040097
property_value: exactMatch http://identifiers.org/snomedct/427213005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1328843

[Term]
id: MONDO:0030705
name: Trichomonas prostatitis
def: "Infection of the prostate gland caused by Trichomonas vaginalis." [NCIT:C35176]
synonym: "trichomonal prostatitis" EXACT []
synonym: "Trichomonas prostatitis" EXACT [NCIT:C35176]
synonym: "Trichomonas vaginalis caused prostatitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis prostatitis (disease)" EXACT []
xref: ICD9:131.03 {source="MONDO:equivalentTo", source="i2s"}
xref: NCIT:C35176 {source="MONDO:equivalentTo"}
xref: SCTID:71590000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153315 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35176", source="MONDO:equivalentTo"}
is_a: MONDO:0002154 {source="NCIT:C35176", source="indirect", source="linkedlifedata"} ! trichomoniasis
is_a: MONDO:0005280 {source="MONDO:Redundant", source="NCIT:C35176", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! prostatitis (disease)
property_value: exactMatch http://identifiers.org/snomedct/71590000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153315
property_value: exactMatch NCIT:C35176

[Term]
id: MONDO:0030706
name: Trichomonas cystitis
def: "An cystitis caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "cystitis in trichomoniasis" RELATED []
synonym: "trichomonal cystitis" EXACT []
synonym: "Trichomonas cystitis" EXACT [NCIT:C35405]
synonym: "Trichomonas vaginalis caused cystitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis cystitis" EXACT []
xref: ICD9:131.09 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C35405 {source="MONDO:equivalentTo"}
xref: SCTID:197850006 {source="MONDO:equivalentTo"}
xref: UMLS:C0341733 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35405"}
is_a: MONDO:0005993 {source="linkedlifedata"} ! Trichomonas vaginitis urogenital infection
is_a: MONDO:0006032 ! cystitis
property_value: exactMatch http://identifiers.org/snomedct/197850006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341733
property_value: exactMatch NCIT:C35405

[Term]
id: MONDO:0030707
name: Trichomonas balanoposthitis
synonym: "Trichomonas balanoposthitis" EXACT [NCIT:C35406]
xref: NCIT:C35406 {source="MONDO:equivalentTo"}
xref: UMLS:C0341769 {source="MONDO:equivalentTo", source="NCIT:C35406"}
is_a: MONDO:0001618 ! balanoposthitis
is_a: MONDO:0002154 {source="NCIT:C35406", source="indirect"} ! trichomoniasis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341769
property_value: exactMatch NCIT:C35406

[Term]
id: MONDO:0030708
name: Trichomonas cervicitis
def: "An cervicitis (disease) caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas cervicitis" EXACT [NCIT:C35588]
synonym: "Trichomonas vaginalis caused cervicitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis cervicitis (disease)" EXACT []
xref: NCIT:C35588 {source="MONDO:equivalentTo"}
is_a: MONDO:0002154 {source="NCIT:C35588", source="indirect"} ! trichomoniasis
is_a: MONDO:0002345 ! cervicitis (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0742232
property_value: exactMatch NCIT:C35588

[Term]
id: MONDO:0030720
name: trichomonal vulvovaginitis
def: "An vulvovaginitis caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "leukorrhea vaginalis - trichomonal" RELATED []
synonym: "trichomonal leukorrhea" RELATED []
synonym: "trichomonal vulvovaginitis" EXACT []
synonym: "Trichomonas vaginalis caused vulvovaginitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis vulvovaginitis" EXACT []
xref: ICD9:131.01 {source="MONDO:equivalentTo", source="i2s"}
xref: SCTID:81598001 {source="MONDO:equivalentTo"}
xref: UMLS:C2945558 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005993 {source="MONDO:Redundant", source="linkedlifedata"} ! Trichomonas vaginitis urogenital infection
is_a: MONDO:0007019 {source="MONDO:Redundant", source="MONDOLEX:0030720", source="linkedlifedata"} ! vulvovaginitis
is_a: MONDO:0023557 ! infective vaginitis
property_value: exactMatch http://identifiers.org/snomedct/81598001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2945558

[Term]
id: MONDO:0030906
name: Trichomonas tenax infectious disease
def: "An disease or disorder caused by infection with Trichomonas tenax." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas tenax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas tenax disease or disorder" EXACT []
synonym: "Trichomonas tenax trichomoniasis" RELATED [DOID:0050270]
xref: DOID:0050270 {source="MONDO:equivalentTo"}
is_a: MONDO:0002154 {source="DOID:0050270", source="MONDO:Redundant"} ! trichomoniasis
property_value: exactMatch DOID:0050270

[Term]
id: MONDO:0030907
name: intellectual disability, X-linked 106
synonym: "mental retardation, X-linked 106" RELATED [OMIM:300997]
synonym: "mental retardation, X-linked 106; MRX106" RELATED [OMIM:300997]
synonym: "MRX106" RELATED [OMIM:300997]
synonym: "X-linked mental retardation 106" RELATED [DOID:0080240]
xref: DOID:0080240 {source="MONDO:equivalentTo"}
xref: OMIM:300997 {source="DOID:0080240", source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="DOID:0080240", source="OMIM:300997"} ! non-syndromic X-linked intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4478379
property_value: exactMatch DOID:0080240
property_value: exactMatch http://identifiers.org/omim/300997

[Term]
id: MONDO:0030908
name: intellectual disability, X-linked, syndromic, 35
synonym: "mental retardation, X-linked, syndromic, 35" RELATED [OMIM:300998]
synonym: "mental retardation, X-linked, syndromic, 35; MRXS35" RELATED [OMIM:300998]
synonym: "MRXS35" RELATED [OMIM:300998]
synonym: "syndromic X-linked mental retardation 35" RELATED [DOID:0080241]
xref: DOID:0080241 {source="MONDO:equivalentTo"}
xref: OMIM:300998 {source="DOID:0080241", source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DOID:0080241", source="OMIM:300998"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4478383
property_value: exactMatch DOID:0080241
property_value: exactMatch http://identifiers.org/omim/300998

[Term]
id: MONDO:0030909
name: intellectual disability, X-linked, syndromic, Houge type
synonym: "mental retardation, X-linked, syndromic, Houge type" RELATED [OMIM:301008]
synonym: "mental retardation, X-linked, syndromic, HOUGE type; MRXSHG" RELATED [OMIM:301008]
synonym: "MRXSHG" RELATED [OMIM:301008]
synonym: "syndromic X-linked mental retardation Hough type" RELATED [DOID:0080242]
xref: DOID:0080242 {source="MONDO:equivalentTo"}
xref: OMIM:301008 {source="DOID:0080242", source="MONDO:equivalentTo"}
xref: UMLS:CN679647 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="DOID:0080242", source="OMIM:301008"} ! X-linked syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4538788
property_value: exactMatch DOID:0080242
property_value: exactMatch http://identifiers.org/omim/301008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN679647

[Term]
id: MONDO:0030910
name: intellectual disability, autosomal dominant 45
synonym: "autosomal dominant mental retardation 45" RELATED [DOID:0080236]
synonym: "mental retardation, autosomal dominant 45" RELATED [OMIM:617600]
synonym: "mental retardation, autosomal dominant 45; MRD45" RELATED [OMIM:617600]
synonym: "MRD45" RELATED [OMIM:617600]
xref: DOID:0080236 {source="MONDO:equivalentTo"}
xref: OMIM:617600 {source="MONDO:equivalentTo", source="DOID:0080236"}
xref: UMLS:CN368509 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080236", source="OMIM:617600"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539848
property_value: exactMatch DOID:0080236
property_value: exactMatch http://identifiers.org/omim/617600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN368509

[Term]
id: MONDO:0030911
name: intellectual disability, autosomal dominant 46
synonym: "autosomal dominant mental retardation 46" RELATED [DOID:0080237]
synonym: "mental retardation, autosomal dominant 46" RELATED [OMIM:617601]
synonym: "mental retardation, autosomal dominant 46; MRD46" RELATED [OMIM:617601]
synonym: "MRD46" RELATED [OMIM:617601]
xref: DOID:0080237 {source="MONDO:equivalentTo"}
xref: OMIM:617601 {source="MONDO:equivalentTo", source="DOID:0080237"}
xref: UMLS:CN371052 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080237", source="OMIM:617601"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539851
property_value: exactMatch DOID:0080237
property_value: exactMatch http://identifiers.org/omim/617601
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN371052

[Term]
id: MONDO:0030912
name: intellectual disability, autosomal dominant 47
subset: ordo_malformation_syndrome
synonym: "autosomal dominant mental retardation 47" RELATED [DOID:0080238]
synonym: "mental retardation, autosomal dominant 47" RELATED [OMIM:617635]
synonym: "mental retardation, autosomal dominant 47; MRD47" RELATED [OMIM:617635]
synonym: "MRD47" RELATED [OMIM:617635]
synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716]
xref: DOID:0080238 {source="MONDO:equivalentTo"}
xref: OMIM:617635 {source="Orphanet:502434", source="MONDO:equivalentTo", source="DOID:0080238"}
xref: Orphanet:502434 {source="OMIM:617635", source="MONDO:equivalentTo"}
xref: UMLS:CN429988 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:502434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015802 {source="DOID:0080238", source="OMIM:617635"} ! autosomal dominant non-syndromic intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502434", source="indirect"} ! syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539951
property_value: exactMatch DOID:0080238
property_value: exactMatch http://identifiers.org/omim/617635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN429988
property_value: exactMatch Orphanet:502434

[Term]
id: MONDO:0030913
name: intellectual disability, autosomal dominant 48
subset: ordo_malformation_syndrome
synonym: "autosomal dominant mental retardation 48" RELATED [DOID:0080235]
synonym: "mental retardation, autosomal dominant 48" RELATED [OMIM:617751]
synonym: "mental retardation, autosomal dominant 48; MRD48" RELATED [OMIM:617751]
synonym: "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" RELATED [Orphanet:500159]
synonym: "MRD48" RELATED [OMIM:617751]
xref: DOID:0080235 {source="MONDO:equivalentTo"}
xref: EFO:0009156 {source="MONDO:equivalentTo"}
xref: OMIM:617751 {source="Orphanet:500159", source="DOID:0080235", source="MONDO:equivalentTo"}
xref: Orphanet:500159 {source="MONDO:equivalentTo", source="OMIM:617751"}
xref: UMLS:CN580791 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500159", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:500159"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017122 ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0080235", source="OMIM:617751"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540321
property_value: exactMatch DOID:0080235
property_value: exactMatch http://identifiers.org/omim/617751
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN580791
property_value: exactMatch Orphanet:500159

[Term]
id: MONDO:0030914
name: intellectual disability, autosomal dominant 49
synonym: "autosomal dominant mental retardation 49" RELATED [DOID:0080234]
synonym: "mental retardation, autosomal dominant 49" RELATED [OMIM:617752]
synonym: "mental retardation, autosomal dominant 49; MRD49" RELATED [OMIM:617752]
synonym: "MRD49" RELATED [OMIM:617752]
xref: DOID:0080234 {source="MONDO:equivalentTo"}
xref: OMIM:617752 {source="MONDO:equivalentTo", source="DOID:0080234"}
xref: UMLS:CN593636 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080234", source="OMIM:617752"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540324
property_value: exactMatch DOID:0080234
property_value: exactMatch http://identifiers.org/omim/617752
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN593636

[Term]
id: MONDO:0030915
name: intellectual disability, autosomal recessive 61
def: "An autosomal recessive non-syndromic intellectual disability that has_material_basis_in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13." [DOID:0080239]
synonym: "Alwadei syndrome" RELATED [OMIM:617773]
synonym: "autosomal recessive mental retardation 61" RELATED [DOID:0080239]
synonym: "mental retardation, autosomal recessive 61" RELATED [OMIM:617773]
synonym: "mental retardation, autosomal recessive 61; MRT61" RELATED [OMIM:617773]
synonym: "MRT61" RELATED [OMIM:617773]
xref: DOID:0080239 {source="MONDO:equivalentTo"}
xref: OMIM:617773 {source="MONDO:equivalentTo", source="DOID:0080239"}
xref: UMLS:CN651335 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="DOID:0080239", source="OMIM:617773"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540424
property_value: exactMatch DOID:0080239
property_value: exactMatch http://identifiers.org/omim/617773
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN651335

[Term]
id: MONDO:0030916
name: intellectual disability, autosomal dominant 50
synonym: "autosomal dominant mental retardation 50" RELATED [DOID:0080233]
synonym: "mental retardation, autosomal dominant 50" RELATED [OMIM:617787]
synonym: "mental retardation, autosomal dominant 50; MRD50" RELATED [OMIM:617787]
synonym: "MRD50" RELATED [OMIM:617787]
xref: DOID:0080233 {source="MONDO:equivalentTo"}
xref: OMIM:617787 {source="DOID:0080233", source="MONDO:equivalentTo"}
xref: UMLS:CN671930 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080233", source="OMIM:617787"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540470
property_value: exactMatch DOID:0080233
property_value: exactMatch http://identifiers.org/omim/617787
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671930

[Term]
id: MONDO:0030917
name: intellectual disability, autosomal dominant 51
synonym: "autosomal dominant mental retardation 51" RELATED [DOID:0080232]
synonym: "mental retardation, autosomal dominant 51" RELATED [OMIM:617788]
synonym: "mental retardation, autosomal dominant 51; MRD51" RELATED [OMIM:617788]
synonym: "MRD51" RELATED [OMIM:617788]
xref: DOID:0080232 {source="MONDO:equivalentTo"}
xref: OMIM:617788 {source="DOID:0080232", source="MONDO:equivalentTo"}
xref: UMLS:CN671931 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080232", source="OMIM:617788"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540474
property_value: exactMatch DOID:0080232
property_value: exactMatch http://identifiers.org/omim/617788
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671931

[Term]
id: MONDO:0030918
name: intellectual disability, autosomal dominant 52
synonym: "autosomal dominant mental retardation 52" RELATED [DOID:0080231]
synonym: "mental retardation, autosomal dominant 52" RELATED [OMIM:617796]
synonym: "mental retardation, autosomal dominant 52; MRD52" RELATED [OMIM:617796]
synonym: "MRD52" RELATED [OMIM:617796]
xref: DOID:0080231 {source="MONDO:equivalentTo"}
xref: EFO:0009152 {source="MONDO:equivalentTo"}
xref: OMIM:617796 {source="DOID:0080231", source="MONDO:equivalentTo"}
xref: UMLS:CN671932 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080231", source="OMIM:617796"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540478
property_value: exactMatch DOID:0080231
property_value: exactMatch http://identifiers.org/omim/617796
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN671932

[Term]
id: MONDO:0030919
name: intellectual disability, autosomal dominant 53
synonym: "autosomal dominant mental retardation 53" RELATED [DOID:0080228]
synonym: "mental retardation, autosomal dominant 53" RELATED [OMIM:617798]
synonym: "mental retardation, autosomal dominant 53; MRD53" RELATED [OMIM:617798]
synonym: "MRD53" RELATED [OMIM:617798]
xref: DOID:0080228 {source="MONDO:equivalentTo"}
xref: EFO:0009165 {source="MONDO:equivalentTo"}
xref: OMIM:617798 {source="MONDO:equivalentTo", source="DOID:0080228"}
is_a: MONDO:0015802 {source="DOID:0080228", source="OMIM:617798"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540481
property_value: exactMatch DOID:0080228
property_value: exactMatch http://identifiers.org/omim/617798

[Term]
id: MONDO:0030920
name: intellectual disability, autosomal dominant 54
synonym: "autosomal dominant mental retardation 54" RELATED [DOID:0080230]
synonym: "mental retardation, autosomal dominant 54" RELATED [OMIM:617799]
synonym: "mental retardation, autosomal dominant 54; MRD54" RELATED [OMIM:617799]
synonym: "MRD54" RELATED [OMIM:617799]
xref: DOID:0080230 {source="MONDO:equivalentTo"}
xref: EFO:0009164 {source="MONDO:equivalentTo"}
xref: OMIM:617799 {source="DOID:0080230", source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080230", source="OMIM:617799"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540484
property_value: exactMatch DOID:0080230
property_value: exactMatch http://identifiers.org/omim/617799

[Term]
id: MONDO:0030921
name: intellectual disability, autosomal dominant 55, with seizures
synonym: "autosomal dominant mental retardation 55" RELATED [DOID:0080227]
synonym: "mental retardation, autosomal dominant 55, with seizures" RELATED [OMIM:617831]
synonym: "mental retardation, autosomal dominant 55, with seizures; MRD55" RELATED [OMIM:617831]
synonym: "MRD55" RELATED [OMIM:617831]
xref: DOID:0080227 {source="MONDO:equivalentTo"}
xref: OMIM:617831 {source="MONDO:equivalentTo", source="DOID:0080227"}
xref: UMLS:CN757796 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080227", source="OMIM:617831"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0080227
property_value: exactMatch http://identifiers.org/omim/617831
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757796

[Term]
id: MONDO:0030922
name: intellectual disability, autosomal dominant 56
synonym: "autosomal dominant mental retardation 56" RELATED [DOID:0080226]
synonym: "mental retardation, autosomal dominant 56" RELATED [OMIM:617854]
synonym: "mental retardation, autosomal dominant 56; MRD56" RELATED [OMIM:617854]
synonym: "MRD56" RELATED [OMIM:617854]
xref: DOID:0080226 {source="MONDO:equivalentTo"}
xref: OMIM:617854 {source="MONDO:equivalentTo", source="DOID:0080226"}
xref: UMLS:CN787270 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080226", source="OMIM:617854"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch DOID:0080226
property_value: exactMatch http://identifiers.org/omim/617854
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN787270

[Term]
id: MONDO:0031012
name: autoimmune uveitis
def: "An autoimmune form of uveitis (disease)." [MONDO:patterns/autoimmune]
synonym: "autoimmune uveitis (disease)" EXACT []
xref: DOID:0040088 {source="MONDO:equivalentTo"}
is_a: MONDO:0000587 {source="DOID:0040088"} ! autoimmune disease of ear, nose and throat
is_a: MONDO:0020283 ! uveitis (disease)
property_value: exactMatch DOID:0040088

[Term]
id: MONDO:0031013
name: autoimmune optic neuritis
def: "An autoimmune form of optic neuritis." [MONDO:patterns/autoimmune]
xref: DOID:0040089 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0000590 {source="DOID:0040089"} ! autoimmune disease of peripheral nervous system
is_a: MONDO:0005885 ! optic neuritis
property_value: exactMatch DOID:0040089

[Term]
id: MONDO:0031014
name: autoimmune gastritis
def: "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma." [NCIT:C95752]
synonym: "autoimmune gastritis (disease)" EXACT []
xref: DOID:0040090 {source="MONDO:equivalentTo"}
xref: NCIT:C95752 {source="MONDO:equivalentTo"}
is_a: MONDO:0000588 {source="DOID:0040090", source="MONDO:Redundant"} ! autoimmune disease of gastrointestinal tract
is_a: MONDO:0004966 ! gastritis (disease)
property_value: exactMatch DOID:0040090
property_value: exactMatch NCIT:C95752

[Term]
id: MONDO:0032485
name: intellectual developmental disorder 61
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61" RELATED [OMIM:618009]
synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009]
xref: OMIM:618009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618009

[Term]
id: MONDO:0032526
name: spinocerebellar ataxia 48
synonym: "SPINOCEREBELLAR ATAXIA 48; SCA48" RELATED [OMIM:618093]
xref: OMIM:618093 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748158
property_value: exactMatch http://identifiers.org/omim/618093

[Term]
id: MONDO:0032564
name: hennekam lymphangiectasia-lymphedema syndrome 3
synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3" RELATED [OMIM:618154]
xref: OMIM:618154 {source="MONDO:equivalentTo"}
is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748408
property_value: exactMatch http://identifiers.org/omim/618154

[Term]
id: MONDO:0032565
name: ophthalmoplegia, external, with rib and vertebral anomalies
synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA" RELATED [OMIM:618155]
xref: OMIM:618155 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:618155"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748418
property_value: exactMatch http://identifiers.org/omim/618155

[Term]
id: MONDO:0032566
name: squalene synthase deficiency
synonym: "Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids" RELATED [OMIM:618156]
synonym: "SQUALENE SYNTHASE DEFICIENCY; SQSD" RELATED [OMIM:618156]
xref: OMIM:618156 {source="MONDO:equivalentTo"}
is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748427
property_value: exactMatch http://identifiers.org/omim/618156

[Term]
id: MONDO:0032567
name: isolated growth hormone deficiency, type 4
synonym: "Dwarfism of Sindh" RELATED [OMIM:618157]
synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157]
synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157]
synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4" RELATED [OMIM:618157]
xref: OMIM:618157 {source="MONDO:equivalentTo"}
is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4722273
property_value: exactMatch http://identifiers.org/omim/618157

[Term]
id: MONDO:0032568
name: intellectual developmental disorder with macrocephaly, seizures, and speech delay
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD" RELATED [OMIM:618158]
xref: OMIM:618158 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:618158"} ! disease or disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748428
property_value: exactMatch http://identifiers.org/omim/618158

[Term]
id: MONDO:0032569
name: isolated growth hormone deficiency, type 5
synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5" RELATED [OMIM:618160]
xref: OMIM:618160 {source="MONDO:equivalentTo"}
is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748435
property_value: exactMatch http://identifiers.org/omim/618160

[Term]
id: MONDO:0032570
name: Joubert syndrome 35
synonym: "JOUBERT SYNDROME 35; JBTS35" RELATED [OMIM:618161]
xref: OMIM:618161 {source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="OMIM:618161"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748442
property_value: exactMatch http://identifiers.org/omim/618161

[Term]
id: MONDO:0032571
name: spondyloepimetaphyseal dysplasia, Krakow type
synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162]
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK" RELATED [OMIM:618162]
xref: OMIM:618162 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="MONDO:cjm"} ! spondyloepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748455
property_value: exactMatch http://identifiers.org/omim/618162

[Term]
id: MONDO:0032572
name: cardiac, facial, and digital anomalies with developmental delay
synonym: "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD" RELATED [OMIM:618164]
xref: OMIM:618164 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618164"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748484
property_value: exactMatch http://identifiers.org/omim/618164

[Term]
id: MONDO:0032573
name: bone marrow failure syndrome 5
synonym: "BONE MARROW FAILURE SYNDROME 5; BMFS5" RELATED [OMIM:618165]
xref: OMIM:618165 {source="MONDO:equivalentTo"}
is_a: MONDO:0000159 {source="OMIM:618165"} ! bone marrow failure syndrome
is_a: MONDO:0003847 {source="OMIM:618165"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748488
property_value: exactMatch http://identifiers.org/omim/618165

[Term]
id: MONDO:0032574
name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits
synonym: "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD" RELATED [OMIM:618167]
xref: OMIM:618167 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618167"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748496
property_value: exactMatch http://identifiers.org/omim/618167

[Term]
id: MONDO:0032575
name: diarrhea 9
synonym: "DIARRHEA 9; DIAR9" RELATED [OMIM:618168]
xref: OMIM:618168 {source="MONDO:equivalentTo"}
is_a: MONDO:0000824 {source="OMIM:618168"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618168"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748517
property_value: exactMatch http://identifiers.org/omim/618168

[Term]
id: MONDO:0032577
name: retinitis pigmentosa 83
synonym: "RETINITIS PIGMENTOSA 83; RP83" RELATED [OMIM:618173]
xref: OMIM:618173 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618173"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748536
property_value: exactMatch http://identifiers.org/omim/618173

[Term]
id: MONDO:0032578
name: cortical dysplasia, complex, with other brain malformations 9
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9" RELATED [OMIM:618174]
xref: OMIM:618174 {source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="OMIM:618174"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748540
property_value: exactMatch http://identifiers.org/omim/618174

[Term]
id: MONDO:0032579
name: warburg-cinotti syndrome
synonym: "WARBURG-CINOTTI SYNDROME; WRCN" RELATED [OMIM:618175]
xref: OMIM:618175 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618175"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193019
property_value: exactMatch http://identifiers.org/omim/618175

[Term]
id: MONDO:0032580
name: nephrotic syndrome, type 17
synonym: "NEPHROTIC SYNDROME, TYPE 17; NPHS17" RELATED [OMIM:618176]
xref: OMIM:618176 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:618176"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748545
property_value: exactMatch http://identifiers.org/omim/618176

[Term]
id: MONDO:0032581
name: nephrotic syndrome, type 18
synonym: "NEPHROTIC SYNDROME, TYPE 18; NPHS18" RELATED [OMIM:618177]
xref: OMIM:618177 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:618177"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748549
property_value: exactMatch http://identifiers.org/omim/618177

[Term]
id: MONDO:0032582
name: nephrotic syndrome, type 19
synonym: "NEPHROTIC SYNDROME, TYPE 19; NPHS19" RELATED [OMIM:618178]
xref: OMIM:618178 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:618178"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748552
property_value: exactMatch http://identifiers.org/omim/618178

[Term]
id: MONDO:0032583
name: microcephaly 24, primary, autosomal recessive
synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24" RELATED [OMIM:618179]
xref: OMIM:618179 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:618179"} ! autosomal recessive primary microcephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748555
property_value: exactMatch http://identifiers.org/omim/618179

[Term]
id: MONDO:0032584
name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14" RELATED [OMIM:618180]
xref: OMIM:618180 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="OMIM:618180"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748560
property_value: exactMatch http://identifiers.org/omim/618180

[Term]
id: MONDO:0032586
name: diarrhea 10, protein-losing enteropathy type
synonym: "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10" RELATED [OMIM:618183]
xref: OMIM:618183 {source="MONDO:equivalentTo"}
is_a: MONDO:0000824 {source="OMIM:618183"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618183"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748579
property_value: exactMatch http://identifiers.org/omim/618183

[Term]
id: MONDO:0032588
name: periventricular nodular heterotopia 8
synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8" RELATED [OMIM:618185]
xref: OMIM:618185 {source="MONDO:equivalentTo"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020341 {source="OMIM:618185"} ! periventricular nodular heterotopia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748602
property_value: exactMatch http://identifiers.org/omim/618185

[Term]
id: MONDO:0032590
name: ovarian dysgenesis 8
synonym: "OVARIAN DYSGENESIS 8; ODG8" RELATED [OMIM:618187]
xref: OMIM:618187 {source="MONDO:equivalentTo"}
is_a: MONDO:0009299 {source="OMIM:618187"} ! 46 XX gonadal dysgenesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748626
property_value: exactMatch http://identifiers.org/omim/618187

[Term]
id: MONDO:0032591
name: hyperparathyroidism, transient neonatal
synonym: "HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN" RELATED [OMIM:618188]
xref: OMIM:618188 {source="MONDO:equivalentTo"}
is_a: MONDO:0016166 ! genetic hyperparathyroidism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1300287
property_value: exactMatch http://identifiers.org/omim/618188

[Term]
id: MONDO:0032592
name: cardiomyopathy, dilated, 2c
synonym: "CARDIOMYOPATHY, DILATED, 2C; CMD2C" RELATED [OMIM:618189]
xref: OMIM:618189 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618189"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748647
property_value: exactMatch http://identifiers.org/omim/618189

[Term]
id: MONDO:0032594
name: intellectual developmental disorder and retinitis pigmentosa; IDDRP
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP" RELATED [OMIM:618195]
xref: OMIM:618195 {source="MONDO:equivalentTo"}
is_a: MONDO:0001071 ! intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748658
property_value: exactMatch http://identifiers.org/omim/618195

[Term]
id: MONDO:0032596
name: myasthenic syndrome, congenital, 23, presynaptic
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23" RELATED [OMIM:618197]
xref: OMIM:618197 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="OMIM:618197"} ! congenital myasthenic syndrome
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748678
property_value: exactMatch http://identifiers.org/omim/618197

[Term]
id: MONDO:0032597
name: myasthenic syndrome, congenital, 24, presynaptic
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24" RELATED [OMIM:618198]
xref: OMIM:618198 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="OMIM:618198"} ! congenital myasthenic syndrome
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748684
property_value: exactMatch http://identifiers.org/omim/618198

[Term]
id: MONDO:0032598
name: epileptic encephalopathy, early infantile, 68
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68" RELATED [OMIM:618201]
xref: OMIM:618201 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618201"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748688
property_value: exactMatch http://identifiers.org/omim/618201

[Term]
id: MONDO:0032599
name: immunodeficiency 15a
synonym: "IMMUNODEFICIENCY 15A; IMD15A" RELATED [OMIM:618204]
xref: OMIM:618204 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618204"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618204"} ! immunodeficiency disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748694
property_value: exactMatch http://identifiers.org/omim/618204

[Term]
id: MONDO:0032600
name: snijders blok-campeau syndrome
synonym: "Intellectual Developmental Disorder With Macrocephaly, Speech Delay, and Dysmorphic Facies" RELATED [OMIM:618205]
synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS" RELATED [OMIM:618205]
xref: OMIM:618205 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618205"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748701
property_value: exactMatch http://identifiers.org/omim/618205

[Term]
id: MONDO:0032601
name: inflammatory bowel disease, immunodeficiency, and encephalopathy
synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE" RELATED [OMIM:618213]
xref: OMIM:618213 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618213"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748708
property_value: closeMatch Orphanet:565788
property_value: exactMatch http://identifiers.org/omim/618213

[Term]
id: MONDO:0032603
name: polydactyly, postaxial, type A9
synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9" RELATED [OMIM:618219]
xref: OMIM:618219 {source="MONDO:equivalentTo"}
is_a: MONDO:0020927 {source="OMIM:618219"} ! postaxial polydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748721
property_value: exactMatch http://identifiers.org/omim/618219

[Term]
id: MONDO:0032604
name: retinitis pigmentosa 84
synonym: "RETINITIS PIGMENTOSA 84; RP84" RELATED [OMIM:618220]
xref: OMIM:618220 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618220"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748725
property_value: exactMatch http://identifiers.org/omim/618220

[Term]
id: MONDO:0032605
name: mental retardation, autosomal recessive 66
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66; MRT66" RELATED [OMIM:618221]
xref: OMIM:618221 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618221"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748732
property_value: exactMatch http://identifiers.org/omim/618221

[Term]
id: MONDO:0032606
name: mitochondrial complex 1 deficiency, nuclear type 2
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2" RELATED [OMIM:618222]
xref: OMIM:618222 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618222"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748737
property_value: exactMatch http://identifiers.org/omim/618222

[Term]
id: MONDO:0032607
name: vertebral anomalies and variable endocrine and T-cell dysfunction
synonym: "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD" RELATED [OMIM:618223]
xref: OMIM:618223 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618223"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748741
property_value: exactMatch http://identifiers.org/omim/618223

[Term]
id: MONDO:0032608
name: mitochondrial complex 1 deficiency, nuclear type 3
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3" RELATED [OMIM:618224]
xref: OMIM:618224 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748752
property_value: exactMatch http://identifiers.org/omim/618224

[Term]
id: MONDO:0032609
name: mitochondrial complex 1 deficiency, nuclear type 4
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4" RELATED [OMIM:618225]
xref: OMIM:618225 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748753
property_value: exactMatch http://identifiers.org/omim/618225

[Term]
id: MONDO:0032610
name: mitochondrial complex 1 deficiency, nuclear type 5
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5" RELATED [OMIM:618226]
xref: OMIM:618226 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748754
property_value: exactMatch http://identifiers.org/omim/618226

[Term]
id: MONDO:0032611
name: mitochondrial complex 1 deficiency, nuclear type 6
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6" RELATED [OMIM:618228]
xref: OMIM:618228 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748759
property_value: exactMatch http://identifiers.org/omim/618228

[Term]
id: MONDO:0032612
name: mitochondrial complex 1 deficiency, nuclear type 7
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7" RELATED [OMIM:618229]
xref: OMIM:618229 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748760
property_value: exactMatch http://identifiers.org/omim/618229

[Term]
id: MONDO:0032613
name: mitochondrial complex 1 deficiency, nuclear type 8
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8" RELATED [OMIM:618230]
xref: OMIM:618230 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748766
property_value: exactMatch http://identifiers.org/omim/618230

[Term]
id: MONDO:0032614
name: epidermodysplasia verruciformis, susceptibility to, 2
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2" RELATED [OMIM:618231]
xref: OMIM:618231 {source="MONDO:equivalentTo"}
is_a: MONDO:0009176 {source="OMIM:618231"} ! epidermodysplasia verruciformis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4722258
property_value: exactMatch http://identifiers.org/omim/618231

[Term]
id: MONDO:0032615
name: mitochondrial complex 1 deficiency, nuclear type 9
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9" RELATED [OMIM:618232]
xref: OMIM:618232 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748767
property_value: exactMatch http://identifiers.org/omim/618232

[Term]
id: MONDO:0032616
name: mitochondrial complex 1 deficiency, nuclear type 10
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10" RELATED [OMIM:618233]
xref: OMIM:618233 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748768
property_value: exactMatch http://identifiers.org/omim/618233

[Term]
id: MONDO:0032617
name: mitochondrial complex 1 deficiency, nuclear type 11
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11" RELATED [OMIM:618234]
xref: OMIM:618234 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748769
property_value: exactMatch http://identifiers.org/omim/618234

[Term]
id: MONDO:0032618
name: mitochondrial complex 1 deficiency, nuclear type 13
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13" RELATED [OMIM:618235]
xref: OMIM:618235 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748770
property_value: exactMatch http://identifiers.org/omim/618235

[Term]
id: MONDO:0032619
name: mitochondrial complex 1 deficiency, nuclear type 14
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14" RELATED [OMIM:618236]
xref: OMIM:618236 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748777
property_value: exactMatch http://identifiers.org/omim/618236

[Term]
id: MONDO:0032620
name: mitochondrial complex 1 deficiency, nuclear type 15
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15" RELATED [OMIM:618237]
xref: OMIM:618237 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748778
property_value: exactMatch http://identifiers.org/omim/618237

[Term]
id: MONDO:0032621
name: mitochondrial complex 1 deficiency, nuclear type 16
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16" RELATED [OMIM:618238]
xref: OMIM:618238 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748785
property_value: exactMatch http://identifiers.org/omim/618238

[Term]
id: MONDO:0032622
name: mitochondrial complex 1 deficiency, nuclear type 17
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17" RELATED [OMIM:618239]
xref: OMIM:618239 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748786
property_value: exactMatch http://identifiers.org/omim/618239

[Term]
id: MONDO:0032623
name: mitochondrial complex 1 deficiency, nuclear type 18
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18" RELATED [OMIM:618240]
xref: OMIM:618240 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748790
property_value: exactMatch http://identifiers.org/omim/618240

[Term]
id: MONDO:0032624
name: mitochondrial complex 1 deficiency, nuclear type 19
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19" RELATED [OMIM:618241]
xref: OMIM:618241 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748791
property_value: exactMatch http://identifiers.org/omim/618241

[Term]
id: MONDO:0032625
name: mitochondrial complex 1 deficiency, nuclear type 21
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21" RELATED [OMIM:618242]
xref: OMIM:618242 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748792
property_value: exactMatch http://identifiers.org/omim/618242

[Term]
id: MONDO:0032626
name: mitochondrial complex 1 deficiency, nuclear type 22
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22" RELATED [OMIM:618243]
xref: OMIM:618243 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748796
property_value: exactMatch http://identifiers.org/omim/618243

[Term]
id: MONDO:0032627
name: mitochondrial complex 1 deficiency, nuclear type 23
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23" RELATED [OMIM:618244]
xref: OMIM:618244 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748799
property_value: exactMatch http://identifiers.org/omim/618244

[Term]
id: MONDO:0032628
name: mitochondrial complex 1 deficiency, nuclear type 24
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24" RELATED [OMIM:618245]
xref: OMIM:618245 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748803
property_value: exactMatch http://identifiers.org/omim/618245

[Term]
id: MONDO:0032629
name: mitochondrial complex 1 deficiency, nuclear type 25
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25" RELATED [OMIM:618246]
xref: OMIM:618246 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748806
property_value: exactMatch http://identifiers.org/omim/618246

[Term]
id: MONDO:0032630
name: mitochondrial complex 1 deficiency, nuclear type 26
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26" RELATED [OMIM:618247]
xref: OMIM:618247 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748809
property_value: exactMatch http://identifiers.org/omim/618247

[Term]
id: MONDO:0032631
name: mitochondrial complex 1 deficiency, nuclear type 27
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27" RELATED [OMIM:618248]
xref: OMIM:618248 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748826
property_value: exactMatch http://identifiers.org/omim/618248

[Term]
id: MONDO:0032632
name: mitochondrial complex 1 deficiency, nuclear type 28
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28" RELATED [OMIM:618249]
xref: OMIM:618249 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748827
property_value: exactMatch http://identifiers.org/omim/618249

[Term]
id: MONDO:0032633
name: mitochondrial complex 1 deficiency, nuclear type 29
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29" RELATED [OMIM:618250]
xref: OMIM:618250 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748830
property_value: exactMatch http://identifiers.org/omim/618250

[Term]
id: MONDO:0032634
name: mitochondrial complex 1 deficiency, nuclear type 31
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31" RELATED [OMIM:618251]
xref: OMIM:618251 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748838
property_value: exactMatch http://identifiers.org/omim/618251

[Term]
id: MONDO:0032635
name: mitochondrial complex 1 deficiency, nuclear type 32
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32" RELATED [OMIM:618252]
xref: OMIM:618252 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748839
property_value: exactMatch http://identifiers.org/omim/618252

[Term]
id: MONDO:0032636
name: mitochondrial complex 1 deficiency, nuclear type 33
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33" RELATED [OMIM:618253]
xref: OMIM:618253 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748840
property_value: exactMatch http://identifiers.org/omim/618253

[Term]
id: MONDO:0032637
name: ciliary dyskinesia, primary, 39
synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [OMIM:618254]
synonym: "CILIARY DYSKINESIA, PRIMARY, 39; CILD39" RELATED [OMIM:618254]
xref: OMIM:618254 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748841
property_value: exactMatch http://identifiers.org/omim/618254

[Term]
id: MONDO:0032639
name: deafness, autosomal recessive 112
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112" RELATED [OMIM:618257]
xref: OMIM:618257 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618257"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748855
property_value: exactMatch http://identifiers.org/omim/618257

[Term]
id: MONDO:0032641
name: mirror movements 4
synonym: "MIRROR MOVEMENTS 4; MRMV4" RELATED [OMIM:618264]
xref: OMIM:618264 {source="MONDO:equivalentTo"}
is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movements
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748869
property_value: exactMatch http://identifiers.org/omim/618264

[Term]
id: MONDO:0032642
name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID" RELATED [OMIM:618265]
xref: OMIM:618265 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618265"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748872
property_value: closeMatch Orphanet:565858
property_value: exactMatch http://identifiers.org/omim/618265

[Term]
id: MONDO:0032643
name: pontocerebellar hypoplasia, type 12
synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12" RELATED [OMIM:618266]
xref: OMIM:618266 {source="MONDO:equivalentTo"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020135 {source="OMIM:618266"} ! pontocerebellar hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748873
property_value: exactMatch http://identifiers.org/omim/618266

[Term]
id: MONDO:0032644
name: epidermodysplasia verruciformis, susceptibility to, 3
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3" RELATED [OMIM:618267]
xref: OMIM:618267 {source="MONDO:equivalentTo"}
is_a: MONDO:0009176 {source="OMIM:618267"} ! epidermodysplasia verruciformis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748876
property_value: exactMatch http://identifiers.org/omim/618267

[Term]
id: MONDO:0032645
name: trichohepatoneurodevelopmental syndrome
synonym: "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS" RELATED [OMIM:618268]
xref: OMIM:618268 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618268"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748898
property_value: exactMatch http://identifiers.org/omim/618268

[Term]
id: MONDO:0032646
name: congenital anomalies of kidney and urinary tract 3
synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3" RELATED [OMIM:618270]
xref: OMIM:618270 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618270"} ! Mendelian disease
is_a: MONDO:0019719 {source="OMIM:618270"} ! congenital anomaly of kidney and urinary tract
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748921
property_value: exactMatch http://identifiers.org/omim/618270

[Term]
id: MONDO:0032647
name: global developmental delay, lung cysts, overgrowth, and wilms tumor
synonym: "GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW" RELATED [OMIM:618272]
synonym: "Glow Syndrome" RELATED [OMIM:618272]
xref: OMIM:618272 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618272"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748924
property_value: exactMatch http://identifiers.org/omim/618272

[Term]
id: MONDO:0032648
name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
synonym: "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM" RELATED [OMIM:618273]
xref: OMIM:618273 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618273"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748927
property_value: exactMatch http://identifiers.org/omim/618273

[Term]
id: MONDO:0032649
name: hypotrichosis 14
synonym: "HYPOTRICHOSIS 14; HYPT14" RELATED [OMIM:618275]
xref: OMIM:618275 {source="MONDO:equivalentTo"}
is_a: MONDO:0003037 {source="OMIM:618275"} ! hypotrichosis
is_a: MONDO:0003847 {source="OMIM:618275"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748930
property_value: exactMatch http://identifiers.org/omim/618275

[Term]
id: MONDO:0032650
name: neurodegeneration, childhood-onset, with cerebellar atrophy
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA" RELATED [OMIM:618276]
xref: OMIM:618276 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618276"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748934
property_value: exactMatch http://identifiers.org/omim/618276

[Term]
id: MONDO:0032651
name: fibrosis, neurodegeneration, and cerebral angiomatosis
synonym: "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA" RELATED [OMIM:618278]
xref: OMIM:618278 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618278"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748939
property_value: exactMatch http://identifiers.org/omim/618278

[Term]
id: MONDO:0032653
name: cardiac-urogenital syndrome
synonym: "CARDIAC-UROGENITAL SYNDROME; CUGS" RELATED [OMIM:618280]
xref: OMIM:618280 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618280"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748946
property_value: exactMatch http://identifiers.org/omim/618280

[Term]
id: MONDO:0032654
name: hyper-IgE recurrent infection syndrome 3, autosomal recessive
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE; HIES3" RELATED [OMIM:618282]
xref: OMIM:618282 {source="MONDO:equivalentTo"}
is_a: MONDO:0018037 {source="OMIM:618282"} ! hyper-IgE syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748969
property_value: exactMatch http://identifiers.org/omim/618282

[Term]
id: MONDO:0032655
name: visual impairment and progressive phthisis bulbi
synonym: "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB" RELATED [OMIM:618283]
xref: OMIM:618283 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618283"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748978
property_value: exactMatch http://identifiers.org/omim/618283

[Term]
id: MONDO:0032656
name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
synonym: "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS" RELATED [OMIM:618284]
xref: OMIM:618284 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618284"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748984
property_value: exactMatch http://identifiers.org/omim/618284

[Term]
id: MONDO:0032657
name: epileptic encephalopathy, early infantile, 69
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69" RELATED [OMIM:618285]
xref: OMIM:618285 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618285"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748988
property_value: exactMatch http://identifiers.org/omim/618285

[Term]
id: MONDO:0032658
name: macrocephaly, acquired, with impaired intellectual development
synonym: "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID" RELATED [OMIM:618286]
synonym: "Macrocephaly, Acquired, With Mental Retardation" RELATED [OMIM:618286]
xref: OMIM:618286 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618286"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748993
property_value: exactMatch http://identifiers.org/omim/618286

[Term]
id: MONDO:0032659
name: mucocutaneous ulceration, chronic
synonym: "MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU" RELATED [OMIM:618287]
xref: OMIM:618287 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618287"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748997
property_value: exactMatch http://identifiers.org/omim/618287

[Term]
id: MONDO:0032660
name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B" RELATED [OMIM:618291]
xref: OMIM:618291 {source="MONDO:equivalentTo"}
is_a: MONDO:0018190 {source="OMIM:618291"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749003
property_value: exactMatch http://identifiers.org/omim/618291

[Term]
id: MONDO:0032661
name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA" RELATED [OMIM:618292]
xref: OMIM:618292 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618292"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749014
property_value: exactMatch http://identifiers.org/omim/618292

[Term]
id: MONDO:0032662
name: intellectual developmental disorder, autosomal recessive 67
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67" RELATED [OMIM:618295]
synonym: "Mental Retardation, Autosomal Recessive 67" RELATED [OMIM:618295]
xref: OMIM:618295 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749019
property_value: exactMatch http://identifiers.org/omim/618295

[Term]
id: MONDO:0032663
name: epileptic encephalopathy, early infantile, 70
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70" RELATED [OMIM:618298]
xref: OMIM:618298 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618298"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749023
property_value: exactMatch http://identifiers.org/omim/618298

[Term]
id: MONDO:0032664
name: ciliary dyskinesia, primary, 40
synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [OMIM:618300]
synonym: "CILIARY DYSKINESIA, PRIMARY, 40; CILD40" RELATED [OMIM:618300]
xref: OMIM:618300 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618300"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749028
property_value: exactMatch http://identifiers.org/omim/618300

[Term]
id: MONDO:0032665
name: intellectual developmental disorder, autosomal recessive 68
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68; MRT68" RELATED [OMIM:618302]
synonym: "Mental Retardation, Autosomal Recessive 68" RELATED [OMIM:618302]
xref: OMIM:618302 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749033
property_value: exactMatch http://identifiers.org/omim/618302

[Term]
id: MONDO:0032666
name: epidermodysplasia verruciformis, susceptibility to, 4
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4" RELATED [OMIM:618307]
xref: OMIM:618307 {source="MONDO:equivalentTo"}
is_a: MONDO:0009176 {source="OMIM:618307"} ! epidermodysplasia verruciformis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749042
property_value: exactMatch http://identifiers.org/omim/618307

[Term]
id: MONDO:0032667
name: epidermodysplasia verruciformis, susceptibility to, 5
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5" RELATED [OMIM:618309]
xref: OMIM:618309 {source="MONDO:equivalentTo"}
is_a: MONDO:0009176 {source="OMIM:618309"} ! epidermodysplasia verruciformis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4749043
property_value: exactMatch http://identifiers.org/omim/618309

[Term]
id: MONDO:0032668
name: Diamond-Blackfan anemia 18
synonym: "DIAMOND-BLACKFAN ANEMIA 18; DBA18" RELATED [OMIM:618310]
xref: OMIM:618310 {source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="OMIM:618310"} ! Diamond-Blackfan anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193020
property_value: exactMatch http://identifiers.org/omim/618310

[Term]
id: MONDO:0032669
name: Diamond-Blackfan anemia 19
synonym: "DIAMOND-BLACKFAN ANEMIA 19; DBA19" RELATED [OMIM:618312]
xref: OMIM:618312 {source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="OMIM:618312"} ! Diamond-Blackfan anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193021
property_value: exactMatch http://identifiers.org/omim/618312

[Term]
id: MONDO:0032670
name: Diamond-Blackfan anemia 20
synonym: "DIAMOND-BLACKFAN ANEMIA 20; DBA20" RELATED [OMIM:618313]
xref: OMIM:618313 {source="MONDO:equivalentTo"}
is_a: MONDO:0015253 {source="OMIM:618313"} ! Diamond-Blackfan anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193022
property_value: exactMatch http://identifiers.org/omim/618313

[Term]
id: MONDO:0032672
name: intellectual developmental disorder with cardiac defects and dysmorphic facies
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF" RELATED [OMIM:618316]
xref: OMIM:618316 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618316"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193024
property_value: closeMatch Orphanet:562569
property_value: exactMatch http://identifiers.org/omim/618316

[Term]
id: MONDO:0032673
name: basal ganglia calcification, idiopathic, 7, autosomal recessive
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7" RELATED [OMIM:618317]
xref: OMIM:618317 {source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="OMIM:618317"} ! bilateral striopallidodentate calcinosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193025
property_value: exactMatch http://identifiers.org/omim/618317

[Term]
id: MONDO:0032675
name: myasthenic syndrome, congenital, 25, presynaptic
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25" RELATED [OMIM:618323]
xref: OMIM:618323 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="OMIM:618323"} ! congenital myasthenic syndrome
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193027
property_value: exactMatch http://identifiers.org/omim/618323

[Term]
id: MONDO:0032677
name: lissencephaly 9 with complex brainstem malformation
synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9" RELATED [OMIM:618325]
xref: OMIM:618325 {source="MONDO:equivalentTo"}
is_a: MONDO:0018838 {source="OMIM:618325"} ! lissencephaly spectrum disorders
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193029
property_value: exactMatch http://identifiers.org/omim/618325

[Term]
id: MONDO:0032678
name: epileptic encephalopathy, early infantile, 71
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71" RELATED [OMIM:618328]
synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [OMIM:618328]
xref: OMIM:618328 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618328"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193030
property_value: exactMatch http://identifiers.org/omim/618328

[Term]
id: MONDO:0032679
name: combined oxidative phosphorylation deficiency 37
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37" RELATED [OMIM:618329]
xref: OMIM:618329 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618329"} ! combined oxidative phosphorylation deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193031
property_value: exactMatch http://identifiers.org/omim/618329

[Term]
id: MONDO:0032680
name: global developmental delay with or without impaired intellectual development
synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI" RELATED [OMIM:618330]
xref: OMIM:618330 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618330"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193032
property_value: exactMatch http://identifiers.org/omim/618330

[Term]
id: MONDO:0032681
name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB" RELATED [OMIM:618331]
xref: OMIM:618331 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618331"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193033
property_value: exactMatch http://identifiers.org/omim/618331

[Term]
id: MONDO:0032684
name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
synonym: "Imagei Syndrome" RELATED [OMIM:618336]
synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI" RELATED [OMIM:618336]
xref: OMIM:618336 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618336"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193036
property_value: exactMatch http://identifiers.org/omim/618336

[Term]
id: MONDO:0032685
name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
synonym: "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CASGID" RELATED [OMIM:618339]
xref: OMIM:618339 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618339"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193037
property_value: exactMatch http://identifiers.org/omim/618339

[Term]
id: MONDO:0032686
name: spermatogenic failure 35
synonym: "SPERMATOGENIC FAILURE 35; SPGF35" RELATED [OMIM:618341]
xref: OMIM:618341 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618341"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193038
property_value: exactMatch http://identifiers.org/omim/618341

[Term]
id: MONDO:0032687
name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS" RELATED [OMIM:618342]
xref: OMIM:618342 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618342"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193039
property_value: exactMatch http://identifiers.org/omim/618342

[Term]
id: MONDO:0032688
name: polymicrogyria with or without vascular-type ehlers-danlos syndrome
synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV" RELATED [OMIM:618343]
xref: OMIM:618343 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618343"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193040
property_value: exactMatch http://identifiers.org/omim/618343

[Term]
id: MONDO:0032689
name: retinitis pigmentosa 85
synonym: "RETINITIS PIGMENTOSA 85; RP85" RELATED [OMIM:618345]
xref: OMIM:618345 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618345"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193041
property_value: exactMatch http://identifiers.org/omim/618345

[Term]
id: MONDO:0032690
name: microcephaly, growth deficiency, seizures, and brain malformations
synonym: "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB" RELATED [OMIM:618346]
xref: OMIM:618346 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618346"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193042
property_value: exactMatch http://identifiers.org/omim/618346

[Term]
id: MONDO:0032691
name: Galloway-Mowat syndrome 6
synonym: "GALLOWAY-MOWAT SYNDROME 6; GAMOS6" RELATED [OMIM:618347]
xref: OMIM:618347 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="OMIM:618347"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193043
property_value: exactMatch http://identifiers.org/omim/618347

[Term]
id: MONDO:0032692
name: Galloway-Mowat syndrome 7
synonym: "GALLOWAY-MOWAT SYNDROME 7; GAMOS7" RELATED [OMIM:618348]
xref: OMIM:618348 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="OMIM:618348"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193044
property_value: exactMatch http://identifiers.org/omim/618348

[Term]
id: MONDO:0032693
name: Galloway-Mowat syndrome 8
synonym: "GALLOWAY-MOWAT SYNDROME 8; GAMOS8" RELATED [OMIM:618349]
xref: OMIM:618349 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="OMIM:618349"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193045
property_value: exactMatch http://identifiers.org/omim/618349

[Term]
id: MONDO:0032694
name: microcephaly 25, primary, autosomal recessive
synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25" RELATED [OMIM:618351]
xref: OMIM:618351 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:618351"} ! autosomal recessive primary microcephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193046
property_value: exactMatch http://identifiers.org/omim/618351

[Term]
id: MONDO:0032696
name: oocyte maturation defect 6
synonym: "OOCYTE MATURATION DEFECT 6; OOMD6" RELATED [OMIM:618353]
xref: OMIM:618353 {source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:618353"} ! inherited oocyte maturation defect
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193047
property_value: exactMatch http://identifiers.org/omim/618353

[Term]
id: MONDO:0032697
name: neurodevelopmental disorder and language delay with or without structural brain abnormalities
synonym: "NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA" RELATED [OMIM:618354]
xref: OMIM:618354 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618354"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193048
property_value: exactMatch http://identifiers.org/omim/618354

[Term]
id: MONDO:0032698
name: neurodevelopmental disorder with central and peripheral motor dysfunction
synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD" RELATED [OMIM:618356]
xref: OMIM:618356 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618356"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193049
property_value: exactMatch http://identifiers.org/omim/618356

[Term]
id: MONDO:0032699
name: epilepsy, idiopathic generalized, susceptibility to, 15
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15" RELATED [OMIM:618357]
xref: OMIM:618357 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="OMIM:618357"} ! epilepsy, idiopathic generalized
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193050
property_value: exactMatch http://identifiers.org/omim/618357

[Term]
id: MONDO:0032702
name: Coffin-Siris syndrome 8
comment: Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466
synonym: "COFFIN-SIRIS SYNDROME 8; CSS8" RELATED [OMIM:618362]
xref: OMIM:618362 {source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193054
property_value: exactMatch http://identifiers.org/omim/618362

[Term]
id: MONDO:0032703
name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
synonym: "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS" RELATED [OMIM:618363]
xref: OMIM:618363 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618363"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193055
property_value: exactMatch http://identifiers.org/omim/618363

[Term]
id: MONDO:0032705
name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM" RELATED [OMIM:618367]
xref: OMIM:618367 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618367"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193057
property_value: exactMatch http://identifiers.org/omim/618367

[Term]
id: MONDO:0032706
name: spinocerebellar ataxia, autosomal recessive 27
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27" RELATED [OMIM:618369]
xref: OMIM:618369 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="OMIM:618369"} ! autosomal recessive cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193058
property_value: exactMatch http://identifiers.org/omim/618369

[Term]
id: MONDO:0032707
name: turnpenny-fry syndrome
synonym: "Neurocardioskeletal Syndrome" RELATED [OMIM:618371]
synonym: "TURNPENNY-FRY SYNDROME; TPFS" RELATED [OMIM:618371]
xref: OMIM:618371 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618371"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193060
property_value: exactMatch http://identifiers.org/omim/618371

[Term]
id: MONDO:0032710
name: epileptic encephalopathy, early infantile, 72
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72" RELATED [OMIM:618374]
xref: OMIM:618374 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618374"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193063
property_value: exactMatch http://identifiers.org/omim/618374

[Term]
id: MONDO:0032712
name: combined oxidative phosphorylation deficiency 38
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38" RELATED [OMIM:618378]
xref: OMIM:618378 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618378"} ! combined oxidative phosphorylation deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193064
property_value: exactMatch http://identifiers.org/omim/618378

[Term]
id: MONDO:0032714
name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG" RELATED [OMIM:618381]
xref: OMIM:618381 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618381"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193066
property_value: exactMatch http://identifiers.org/omim/618381

[Term]
id: MONDO:0032715
name: intellectual developmental disorder, autosomal recessive 69
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69; MRT69" RELATED [OMIM:618383]
synonym: "Mental Retardation, Autosomal Recessive 69" RELATED [OMIM:618383]
xref: OMIM:618383 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193067
property_value: exactMatch http://identifiers.org/omim/618383

[Term]
id: MONDO:0032716
name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK" RELATED [OMIM:618384]
xref: OMIM:618384 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618384"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193068
property_value: exactMatch http://identifiers.org/omim/618384

[Term]
id: MONDO:0032717
name: amelogenesis imperfecta, type 3c
synonym: "Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive" RELATED [OMIM:618386]
synonym: "AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C" RELATED [OMIM:618386]
xref: OMIM:618386 {source="MONDO:equivalentTo"}
is_a: MONDO:0019507 {source="OMIM:618386"} ! amelogenesis imperfecta
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193069
property_value: exactMatch http://identifiers.org/omim/618386

[Term]
id: MONDO:0032721
name: spondyloepiphyseal dysplasia, kondo-fu type
synonym: "Sed With Elevated Blood Lysosomal Enzymes" RELATED [OMIM:618392]
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF" RELATED [OMIM:618392]
xref: OMIM:618392 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193071
property_value: exactMatch http://identifiers.org/omim/618392

[Term]
id: MONDO:0032723
name: immunodeficiency 60
synonym: "IMMUNODEFICIENCY 60; IMD60" RELATED [OMIM:618394]
synonym: "Immunodeficiency and Autoimmunity, Bach2-Related" RELATED [OMIM:618394]
xref: OMIM:618394 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618394"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618394"} ! immunodeficiency disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193072
property_value: exactMatch http://identifiers.org/omim/618394

[Term]
id: MONDO:0032724
name: spondyloepimetaphyseal dysplasia with joint laxity, type 3
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3" RELATED [OMIM:618395]
xref: OMIM:618395 {source="MONDO:equivalentTo"}
is_a: MONDO:0019675 {source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193073
property_value: exactMatch http://identifiers.org/omim/618395

[Term]
id: MONDO:0032725
name: epileptic encephalopathy, early infantile, 74
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74" RELATED [OMIM:618396]
xref: OMIM:618396 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618396"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193074
property_value: exactMatch http://identifiers.org/omim/618396

[Term]
id: MONDO:0032726
name: combined oxidative phosphorylation deficiency 39
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39" RELATED [OMIM:618397]
xref: OMIM:618397 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:618397"} ! combined oxidative phosphorylation deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193075
property_value: closeMatch Orphanet:565624
property_value: exactMatch http://identifiers.org/omim/618397

[Term]
id: MONDO:0032728
name: charcot-marie-tooth disease, axonal, type 2ee
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE" RELATED [OMIM:618400]
synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [OMIM:618400]
xref: OMIM:618400 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="MONDO:cjm"} ! Charcot-Marie-Tooth disease type 2
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193076
property_value: exactMatch http://identifiers.org/omim/618400

[Term]
id: MONDO:0032729
name: intellectual developmental disorder, autosomal recessive 70
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70" RELATED [OMIM:618402]
synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [OMIM:618402]
xref: OMIM:618402 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193077
property_value: exactMatch http://identifiers.org/omim/618402

[Term]
id: MONDO:0032730
name: leukodystrophy, hypomyelinating, 18
synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18" RELATED [OMIM:618404]
xref: OMIM:618404 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193078
property_value: exactMatch http://identifiers.org/omim/618404

[Term]
id: MONDO:0032732
name: deafness, autosomal recessive 113
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113" RELATED [OMIM:618410]
xref: OMIM:618410 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618410"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193079
property_value: exactMatch http://identifiers.org/omim/618410

[Term]
id: MONDO:0032733
name: global developmental delay, progressive ataxia, and elevated glutamine
synonym: "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG" RELATED [OMIM:618412]
synonym: "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia" RELATED [OMIM:618412]
xref: OMIM:618412 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618412"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193080
property_value: exactMatch http://identifiers.org/omim/618412

[Term]
id: MONDO:0032735
name: cataract 48
synonym: "CATARACT 48; CTRCT48" RELATED [OMIM:618415]
xref: OMIM:618415 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618415"} ! Mendelian disease
is_a: MONDO:0005129 {source="OMIM:618415"} ! cataract (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193082
property_value: exactMatch http://identifiers.org/omim/618415

[Term]
id: MONDO:0032736
name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
synonym: "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN" RELATED [OMIM:618416]
xref: OMIM:618416 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618416"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193083
property_value: exactMatch http://identifiers.org/omim/618416

[Term]
id: MONDO:0032737
name: spastic paraplegia 80, autosomal dominant
synonym: "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80" RELATED [OMIM:618418]
xref: OMIM:618418 {source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="OMIM:618418"} ! hereditary spastic paraplegia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193084
property_value: exactMatch http://identifiers.org/omim/618418

[Term]
id: MONDO:0032738
name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
synonym: "GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM" RELATED [OMIM:618419]
xref: OMIM:618419 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618419"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193085
property_value: exactMatch http://identifiers.org/omim/618419

[Term]
id: MONDO:0032739
name: spermatogenic failure 36
synonym: "SPERMATOGENIC FAILURE 36; SPGF36" RELATED [OMIM:618420]
xref: OMIM:618420 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618420"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193086
property_value: exactMatch http://identifiers.org/omim/618420

[Term]
id: MONDO:0032740
name: deafness, autosomal recessive 100
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100" RELATED [OMIM:618422]
xref: OMIM:618422 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618422"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193087
property_value: exactMatch http://identifiers.org/omim/618422

[Term]
id: MONDO:0032741
name: neurodevelopmental disorder with impaired speech and hyperkinetic movements
synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM" RELATED [OMIM:618425]
xref: OMIM:618425 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618425"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193088
property_value: exactMatch http://identifiers.org/omim/618425

[Term]
id: MONDO:0032742
name: encephalopathy, acute, infection-induced, susceptibility to, 9
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9" RELATED [OMIM:618426]
xref: OMIM:618426 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="OMIM:618426"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193089
property_value: exactMatch http://identifiers.org/omim/618426

[Term]
id: MONDO:0032744
name: spermatogenic failure 37
synonym: "SPERMATOGENIC FAILURE 37; SPGF37" RELATED [OMIM:618429]
xref: OMIM:618429 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618429"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193091
property_value: exactMatch http://identifiers.org/omim/618429

[Term]
id: MONDO:0032745
name: developmental delay with variable intellectual impairment and behavioral abnormalities
synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA" RELATED [OMIM:618430]
xref: OMIM:618430 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618430"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193092
property_value: exactMatch http://identifiers.org/omim/618430

[Term]
id: MONDO:0032746
name: hydatidiform mole, recurrent, 3
synonym: "HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3" RELATED [OMIM:618431]
xref: OMIM:618431 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618431"} ! Mendelian disease
is_a: MONDO:0006248 {source="OMIM:618431"} ! hydatidiform mole
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193093
property_value: exactMatch http://identifiers.org/omim/618431

[Term]
id: MONDO:0032747
name: hydatidiform mole, recurrent, 4
synonym: "HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4" RELATED [OMIM:618432]
xref: OMIM:618432 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618432"} ! Mendelian disease
is_a: MONDO:0006248 {source="OMIM:618432"} ! hydatidiform mole
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193094
property_value: exactMatch http://identifiers.org/omim/618432

[Term]
id: MONDO:0032748
name: spermatogenic failure 38
synonym: "SPERMATOGENIC FAILURE 38; SPGF38" RELATED [OMIM:618433]
xref: OMIM:618433 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618433"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193095
property_value: exactMatch http://identifiers.org/omim/618433

[Term]
id: MONDO:0032749
name: deafness, autosomal recessive 94
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94" RELATED [OMIM:618434]
xref: OMIM:618434 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618434"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193096
property_value: exactMatch http://identifiers.org/omim/618434

[Term]
id: MONDO:0032750
name: arthrogryposis, distal, type 2b2
synonym: "ARTHROGRYPOSIS, DISTAL, TYPE 2B2; DA2B2" RELATED [OMIM:618435]
xref: OMIM:618435 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618435"} ! Mendelian disease
is_a: MONDO:0019942 {source="OMIM:618435"} ! distal arthrogryposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193097
property_value: exactMatch http://identifiers.org/omim/618435

[Term]
id: MONDO:0032751
name: arthrogryposis, distal, type 2b3
synonym: "ARTHROGRYPOSIS, DISTAL, TYPE 2B3; DA2B3" RELATED [OMIM:618436]
xref: OMIM:618436 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618436"} ! Mendelian disease
is_a: MONDO:0019942 {source="OMIM:618436"} ! distal arthrogryposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193098
property_value: exactMatch http://identifiers.org/omim/618436

[Term]
id: MONDO:0032752
name: epileptic encephalopathy, early infantile, 75
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75" RELATED [OMIM:618437]
xref: OMIM:618437 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618437"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193099
property_value: exactMatch http://identifiers.org/omim/618437

[Term]
id: MONDO:0032753
name: spastic ataxia 9, autosomal recessive
synonym: "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9" RELATED [OMIM:618438]
xref: OMIM:618438 {source="MONDO:equivalentTo"}
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0017845 {source="OMIM:618438"} ! spastic ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193100
property_value: exactMatch http://identifiers.org/omim/618438

[Term]
id: MONDO:0032755
name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA" RELATED [OMIM:618443]
xref: OMIM:618443 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618443"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193102
property_value: exactMatch http://identifiers.org/omim/618443

[Term]
id: MONDO:0032756
name: long qt syndrome 8
synonym: "LONG QT SYNDROME 8; LQT8" RELATED [OMIM:618447]
xref: OMIM:618447 {source="MONDO:equivalentTo"}
is_a: MONDO:0019171 {source="OMIM:618447"} ! familial long QT syndrome
property_value: exactMatch http://identifiers.org/omim/618447

[Term]
id: MONDO:0032757
name: ciliary dyskinesia, primary, 41
synonym: "CILIARY DYSKINESIA, PRIMARY, 41; CILD41" RELATED [OMIM:618449]
xref: OMIM:618449 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618449"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193103
property_value: exactMatch http://identifiers.org/omim/618449

[Term]
id: MONDO:0032758
name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA; NDCAMA" RELATED [OMIM:618451]
xref: OMIM:618451 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618451"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193104
property_value: exactMatch http://identifiers.org/omim/618451

[Term]
id: MONDO:0032759
name: intellectual developmental disorder with short stature and variable skeletal anomalies
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA" RELATED [OMIM:618453]
xref: OMIM:618453 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618453"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193105
property_value: exactMatch http://identifiers.org/omim/618453

[Term]
id: MONDO:0032760
name: developmental delay with or without dysmorphic facies and autism
synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA" RELATED [OMIM:618454]
xref: OMIM:618454 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618454"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193106
property_value: exactMatch http://identifiers.org/omim/618454

[Term]
id: MONDO:0032761
name: deafness, autosomal recessive 114
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114" RELATED [OMIM:618456]
xref: OMIM:618456 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618456"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193107
property_value: exactMatch http://identifiers.org/omim/618456

[Term]
id: MONDO:0032762
name: deafness, autosomal recessive 115
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115" RELATED [OMIM:618457]
xref: OMIM:618457 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618457"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193108
property_value: exactMatch http://identifiers.org/omim/618457

[Term]
id: MONDO:0032763
name: immunodeficiency 62
synonym: "IMMUNODEFICIENCY 62; IMD62" RELATED [OMIM:618459]
xref: OMIM:618459 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618459"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618459"} ! immunodeficiency disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193109
property_value: exactMatch http://identifiers.org/omim/618459

[Term]
id: MONDO:0032764
name: Khan-Khan-Katsanis syndrome
synonym: "3K Syndrome" RELATED [OMIM:618460]
synonym: "KHAN-KHAN-KATSANIS SYNDROME; 3KS" RELATED [OMIM:618460]
xref: OMIM:618460 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618460"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193110
property_value: exactMatch http://identifiers.org/omim/618460

[Term]
id: MONDO:0032765
name: bleeding disorder, platelet-type, 22
synonym: "BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22" RELATED [OMIM:618462]
xref: OMIM:618462 {source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="OMIM:618462"} ! inherited bleeding disorder, platelet-type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193111
property_value: exactMatch http://identifiers.org/omim/618462

[Term]
id: MONDO:0032766
name: hypoalphalipoproteinemia, primary, 2
synonym: "Apolipoprotein A-I Deficiency" RELATED [OMIM:618463]
synonym: "Combined Apolipoprotein A-I and C-Iii Deficiency" RELATED [OMIM:618463]
synonym: "High Density Lipoprotein Deficiency" RELATED [OMIM:618463]
synonym: "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2" RELATED [OMIM:618463]
xref: OMIM:618463 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618463"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618463

[Term]
id: MONDO:0032767
name: paragangliomas 6
synonym: "PARAGANGLIOMAS 6; PGL6" RELATED [OMIM:618464]
xref: OMIM:618464 {source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="OMIM:618464"} ! paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193112
property_value: exactMatch http://identifiers.org/omim/618464

[Term]
id: MONDO:0032768
name: epileptic encephalopathy, early infantile, 76
synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; EIEE76" RELATED [OMIM:618468]
xref: OMIM:618468 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618468"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193113
property_value: exactMatch http://identifiers.org/omim/618468

[Term]
id: MONDO:0032770
name: intellectual developmental disorder with severe speech and ambulation defects
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD" RELATED [OMIM:618470]
xref: OMIM:618470 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618470"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193115
property_value: exactMatch http://identifiers.org/omim/618470

[Term]
id: MONDO:0032771
name: paragangliomas 7
synonym: "PARAGANGLIOMAS 7; PGL7" RELATED [OMIM:618475]
xref: OMIM:618475 {source="MONDO:equivalentTo"}
is_a: MONDO:0000448 {source="OMIM:618475"} ! paraganglioma
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0025511 ! inherited neuroendocrine tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193116
property_value: exactMatch http://identifiers.org/omim/618475

[Term]
id: MONDO:0032772
name: brain abnormalities, neurodegeneration, and dysosteosclerosis
synonym: "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS" RELATED [OMIM:618476]
xref: OMIM:618476 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618476"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193117
property_value: exactMatch http://identifiers.org/omim/618476

[Term]
id: MONDO:0032773
name: uridine-cytidineuria
synonym: "URIDINE-CYTIDINEURIA; URCTU" RELATED [OMIM:618477]
xref: OMIM:618477 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4760647
property_value: exactMatch http://identifiers.org/omim/618477

[Term]
id: MONDO:0032774
name: cerebellar, ocular, craniofacial, and genital syndrome
synonym: "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG" RELATED [OMIM:618479]
xref: OMIM:618479 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618479"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193118
property_value: exactMatch http://identifiers.org/omim/618479

[Term]
id: MONDO:0032775
name: neurodevelopmental disorder with seizures and speech and walking impairment
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI" RELATED [OMIM:618480]
xref: OMIM:618480 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618480"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193119
property_value: exactMatch http://identifiers.org/omim/618480

[Term]
id: MONDO:0032776
name: deafness, autosomal recessive 99
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99" RELATED [OMIM:618481]
xref: OMIM:618481 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618481"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4760579
property_value: exactMatch http://identifiers.org/omim/618481

[Term]
id: MONDO:0032777
name: generalized epilepsy with febrile seizures plus, type 10
synonym: "Gefs+, Type 10" RELATED [OMIM:618482]
synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10" RELATED [OMIM:618482]
xref: OMIM:618482 {source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="OMIM:618482"} ! generalized epilepsy with febrile seizures plus
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193120
property_value: exactMatch http://identifiers.org/omim/618482

[Term]
id: MONDO:0032778
name: arthrogryposis multiplex congenita, myogenic type
synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE; AMCM" RELATED [OMIM:618484]
xref: OMIM:618484 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618484"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193121
property_value: exactMatch http://identifiers.org/omim/618484

[Term]
id: MONDO:0032779
name: neurodevelopmental disorder with microcephaly and structural brain anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA" RELATED [OMIM:618492]
xref: OMIM:618492 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618492"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193123
property_value: exactMatch http://identifiers.org/omim/618492

[Term]
id: MONDO:0032780
name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
synonym: "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA" RELATED [OMIM:618493]
xref: OMIM:618493 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618493"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193124
property_value: exactMatch http://identifiers.org/omim/618493

[Term]
id: MONDO:0032781
name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies
synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA" RELATED [OMIM:618494]
xref: OMIM:618494 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618494"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193125
property_value: exactMatch http://identifiers.org/omim/618494

[Term]
id: MONDO:0032782
name: immunodeficiency 63 with lymphoproliferation and autoimmunity
synonym: "Cd122 Deficiency" RELATED [OMIM:618495]
synonym: "Il2Rb Deficiency" RELATED [OMIM:618495]
synonym: "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63" RELATED [OMIM:618495]
synonym: "Interleukin 2 Receptor, Beta, Deficiency of" RELATED [OMIM:618495]
xref: OMIM:618495 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618495"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618495"} ! immunodeficiency disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193126
property_value: exactMatch http://identifiers.org/omim/618495

[Term]
id: MONDO:0032783
name: aortic valve disease 3
synonym: "AORTIC VALVE DISEASE 3; AOVD3" RELATED [OMIM:618496]
xref: OMIM:618496 {source="MONDO:equivalentTo"}
is_a: MONDO:0007194 {source="OMIM:618496"} ! familial bicuspid aortic valve
is_a: MONDO:0016229 ! genetic vascular anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193127
property_value: exactMatch http://identifiers.org/omim/618496

[Term]
id: MONDO:0032784
name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH" RELATED [OMIM:618497]
xref: OMIM:618497 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618497"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193128
property_value: exactMatch http://identifiers.org/omim/618497

[Term]
id: MONDO:0032785
name: polydactyly, postaxial, type a10
synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10" RELATED [OMIM:618498]
xref: OMIM:618498 {source="MONDO:equivalentTo"}
is_a: MONDO:0020927 {source="OMIM:618498"} ! postaxial polydactyly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193129
property_value: exactMatch http://identifiers.org/omim/618498

[Term]
id: MONDO:0032786
name: Noonan syndrome 11
synonym: "NOONAN SYNDROME 11; NS11" RELATED [OMIM:618499]
xref: OMIM:618499 {source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="OMIM:618499"} ! Noonan syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193130
property_value: exactMatch http://identifiers.org/omim/618499

[Term]
id: MONDO:0032787
name: holoprosencephaly 12 with or without pancreatic agenesis
synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12" RELATED [OMIM:618500]
xref: OMIM:618500 {source="MONDO:equivalentTo"}
is_a: MONDO:0016296 {source="OMIM:618500"} ! holoprosencephaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193131
property_value: exactMatch http://identifiers.org/omim/618500

[Term]
id: MONDO:0032788
name: cerebellar atrophy with seizures and variable developmental delay
synonym: "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD" RELATED [OMIM:618501]
xref: OMIM:618501 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618501"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193132
property_value: exactMatch http://identifiers.org/omim/618501

[Term]
id: MONDO:0032789
name: intellectual developmental disorder, autosomal recessive 71
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71" RELATED [OMIM:618504]
synonym: "Mental Retardation, Autosomal Recessive 71" RELATED [OMIM:618504]
xref: OMIM:618504 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193133
property_value: exactMatch http://identifiers.org/omim/618504

[Term]
id: MONDO:0032790
name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA" RELATED [OMIM:618505]
xref: OMIM:618505 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618505"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193134
property_value: exactMatch http://identifiers.org/omim/618505

[Term]
id: MONDO:0032791
name: Coffin-Siris syndrome 10
synonym: "COFFIN-SIRIS SYNDROME 10; CSS10" RELATED [OMIM:618506]
xref: OMIM:618506 {source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="OMIM:618506"} ! Coffin-Siris syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4760583
property_value: exactMatch http://identifiers.org/omim/618506

[Term]
id: MONDO:0032792
name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
synonym: "Charcot-Marie-Tooth Disease, Type 6C" EXACT [OMIM:618511]
synonym: "CMT 6C" EXACT [OMIM:618511]
synonym: "CMT6C" EXACT [OMIM:618511]
synonym: "HMSN 6C" EXACT [OMIM:618511]
synonym: "HMSN6C" EXACT [OMIM:618511]
synonym: "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy; HMSN6C" EXACT [OMIM:618511]
xref: OMIM:618511 {source="MONDO:equivalentTo"}
is_a: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193137
property_value: exactMatch http://identifiers.org/omim/618511

[Term]
id: MONDO:0032793
name: O'Donnell-Luria-Rodan syndrome
synonym: "O'Donnell-Luria-Rodan syndrome; ODLURO" RELATED [OMIM:618512]
xref: OMIM:618512 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618512"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193138
property_value: exactMatch http://identifiers.org/omim/618512

[Term]
id: MONDO:0032794
name: leber congenital amaurosis 19
synonym: "LEBER CONGENITAL AMAUROSIS 19; LCA19" RELATED [OMIM:618513]
xref: OMIM:618513 {source="MONDO:equivalentTo"}
is_a: MONDO:0018998 {source="OMIM:618513"} ! Leber congenital amaurosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193139
property_value: exactMatch http://identifiers.org/omim/618513

[Term]
id: MONDO:0032795
name: intellectual developmental disorder 59
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59; MRD59" RELATED [OMIM:618522]
synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [OMIM:618522]
xref: OMIM:618522 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618522"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193140
property_value: exactMatch http://identifiers.org/omim/618522

[Term]
id: MONDO:0032796
name: hyper-ige recurrent infection syndrome 4, autosomal recessive
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4" RELATED [OMIM:618523]
xref: OMIM:618523 {source="MONDO:equivalentTo"}
is_a: MONDO:0018037 {source="OMIM:618523"} ! hyper-IgE syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193141
property_value: exactMatch http://identifiers.org/omim/618523

[Term]
id: MONDO:0032797
name: myopathy, congenital, with tremor
synonym: "Myogenic Tremor" RELATED [OMIM:618524]
synonym: "MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM" RELATED [OMIM:618524]
xref: OMIM:618524 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618524"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618524

[Term]
id: MONDO:0032798
name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
synonym: "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD" RELATED [OMIM:618527]
xref: OMIM:618527 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618527"} ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193147
property_value: exactMatch http://identifiers.org/omim/618527

[Term]
id: MONDO:0032799
name: mitochondrial dna depletion syndrome 16 (hepatic type)
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE); MTDPS16" RELATED [OMIM:618528]
xref: OMIM:618528 {source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="OMIM:618528"} ! mitochondrial DNA depletion syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193142
property_value: exactMatch http://identifiers.org/omim/618528

[Term]
id: MONDO:0032800
name: robinow syndrome, autosomal recessive 2
synonym: "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2; RRS2" RELATED [OMIM:618529]
xref: OMIM:618529 {source="MONDO:equivalentTo"}
is_a: MONDO:0019978 {source="OMIM:618529"} ! Robinow syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193143
property_value: exactMatch http://identifiers.org/omim/618529

[Term]
id: MONDO:0032801
name: erythrokeratodermia variabilis et progressiva 6
synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6" RELATED [OMIM:618531]
xref: OMIM:618531 {source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="OMIM:618531"} ! erythrokeratodermia variabilis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193144
property_value: exactMatch http://identifiers.org/omim/618531

[Term]
id: MONDO:0032802
name: deafness, autosomal dominant 37
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37" RELATED [OMIM:618533]
xref: OMIM:618533 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:618533"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4760307
property_value: exactMatch http://identifiers.org/omim/618533

[Term]
id: MONDO:0032803
name: immunodeficiency 64
synonym: "IMMUNODEFICIENCY 64; IMD64" RELATED [OMIM:618534]
xref: OMIM:618534 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618534"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618534"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/618534

[Term]
id: MONDO:0032804
name: ectodermal dysplasia 15, hypohidrotic/hair type
synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE; ECTD15" RELATED [OMIM:618535]
xref: OMIM:618535 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="OMIM:618535"} ! ectodermal dysplasia syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193145
property_value: exactMatch http://identifiers.org/omim/618535

[Term]
id: MONDO:0032805
name: hypopigmentation, organomegaly, and delayed myelination and development
synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD" RELATED [OMIM:618541]
xref: OMIM:618541 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618541"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618541

[Term]
id: MONDO:0032806
name: trichothiodystrophy 7, nonphotosensitive
synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7" RELATED [OMIM:618546]
xref: OMIM:618546 {source="MONDO:equivalentTo"}
is_a: MONDO:0018053 {source="OMIM:618546"} ! trichothiodystrophy
property_value: exactMatch http://identifiers.org/omim/618546

[Term]
id: MONDO:0032807
name: neurodevelopmental disorder with visual defects and brain anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA" RELATED [OMIM:618547]
xref: OMIM:618547 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618547"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618547

[Term]
id: MONDO:0032808
name: epileptic encephalopathy, early infantile, 77
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77; EIEE77" RELATED [OMIM:618548]
synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 19" RELATED [OMIM:618548]
xref: OMIM:618548 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618548"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618548

[Term]
id: MONDO:0032809
name: hepatitis, fulminant viral, susceptibility to
synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH" RELATED [OMIM:618549]
xref: OMIM:618549 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618549"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618549

[Term]
id: MONDO:0032810
name: oocyte maturation defect 7
synonym: "OOCYTE MATURATION DEFECT 7; OOMD7" RELATED [OMIM:618550]
xref: OMIM:618550 {source="MONDO:equivalentTo"}
is_a: MONDO:0014769 {source="OMIM:618550"} ! inherited oocyte maturation defect
property_value: exactMatch http://identifiers.org/omim/618550

[Term]
id: MONDO:0032811
name: night blindness, congenital stationary, type1i
synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I" RELATED [OMIM:618555]
xref: OMIM:618555 {source="MONDO:equivalentTo"}
is_a: MONDO:0016293 {source="OMIM:618555"} ! congenital stationary night blindness
property_value: exactMatch http://identifiers.org/omim/618555

[Term]
id: MONDO:0032812
name: epileptic encephalopathy, early infantile, 78
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78" RELATED [OMIM:618557]
xref: OMIM:618557 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618557"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618557

[Term]
id: MONDO:0032813
name: epileptic encephalopathy, early infantile, 79
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; EIEE79" RELATED [OMIM:618559]
xref: OMIM:618559 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618559"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618559

[Term]
id: MONDO:0032814
name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant
synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [OMIM:618564]
synonym: "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL" RELATED [OMIM:618564]
xref: OMIM:618564 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618564"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618564

[Term]
id: MONDO:0032815
name: mitochondrial DNA depletion syndrome 17
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17" RELATED [OMIM:618567]
xref: OMIM:618567 {source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="OMIM:618567"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch http://identifiers.org/omim/618567

[Term]
id: MONDO:0032816
name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM" RELATED [OMIM:618569]
xref: OMIM:618569 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618569"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618569

[Term]
id: MONDO:0032817
name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
synonym: "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF" RELATED [OMIM:618571]
xref: OMIM:618571 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618571"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618571

[Term]
id: MONDO:0032818
name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity
synonym: "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS" RELATED [OMIM:618572]
xref: OMIM:618572 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618572"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618572

[Term]
id: MONDO:0032819
name: hypothyroidism, congenital, nongoitrous, 7
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7" RELATED [OMIM:618573]
synonym: "Thyrotropin-Releasing Hormone Resistance, Generalized" RELATED [OMIM:618573]
xref: OMIM:618573 {source="MONDO:equivalentTo"}
is_a: MONDO:0000045 {source="OMIM:618573"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0003847 {source="OMIM:618573"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618573

[Term]
id: MONDO:0032820
name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF" RELATED [OMIM:618577]
xref: OMIM:618577 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618577"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618577

[Term]
id: MONDO:0032821
name: myopathy, congenital, progressive, with scoliosis
synonym: "MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO" RELATED [OMIM:618578]
xref: OMIM:618578 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618578"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618578

[Term]
id: MONDO:0032822
name: epileptic encephalopathy, early infantile, 80
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80" RELATED [OMIM:618580]
synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [OMIM:618580]
xref: OMIM:618580 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618580"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618580

[Term]
id: MONDO:0032823
name: intellectual developmental disorder 60 with seizures
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES; MRD60" RELATED [OMIM:618587]
synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [OMIM:618587]
xref: OMIM:618587 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618587"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618587

[Term]
id: MONDO:0032824
name: glycosylphosphatidylinositol biosynthesis defect 21
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21; GPIBD21" RELATED [OMIM:618590]
synonym: "Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis" RELATED [OMIM:618590]
xref: OMIM:618590 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618590"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618590

[Term]
id: MONDO:0032826
name: nephrotic syndrome, type 21
synonym: "NEPHROTIC SYNDROME, TYPE 21; NPHS21" RELATED [OMIM:618594]
xref: OMIM:618594 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="OMIM:618594"} ! familial nephrotic syndrome
property_value: exactMatch http://identifiers.org/omim/618594

[Term]
id: MONDO:0032827
name: epilepsy, idiopathic generalized, susceptibility to, 16
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16" RELATED [OMIM:618596]
xref: OMIM:618596 {source="MONDO:equivalentTo"}
is_a: MONDO:0005579 {source="OMIM:618596"} ! epilepsy, idiopathic generalized
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/618596

[Term]
id: MONDO:0032828
name: spastic tetraplegia and axial hypotonia, progressive
synonym: "Sod1 Deficiency, Autosomal Recessive" RELATED [OMIM:618598]
synonym: "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP" RELATED [OMIM:618598]
xref: OMIM:618598 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618598"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618598

[Term]
id: MONDO:0032829
name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB" RELATED [OMIM:618603]
xref: OMIM:618603 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618603"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618603

[Term]
id: MONDO:0032830
name: snijders blok-fisher syndrome
synonym: "SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS" RELATED [OMIM:618604]
xref: OMIM:618604 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618604"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618604

[Term]
id: MONDO:0032831
name: pontocerebellar hypoplasia, type 13
synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13" RELATED [OMIM:618606]
xref: OMIM:618606 {source="MONDO:equivalentTo"}
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020135 {source="OMIM:618606"} ! pontocerebellar hypoplasia
property_value: exactMatch http://identifiers.org/omim/618606

[Term]
id: MONDO:0032832
name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
synonym: "Chromosome 12Q15 Deletion Syndrome" RELATED [OMIM:618608]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS" RELATED [OMIM:618608]
xref: OMIM:618608 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618608"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618608

[Term]
id: MONDO:0032833
name: lower urinary tract obstruction, congenital
synonym: "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO" RELATED [OMIM:618612]
xref: OMIM:618612 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618612"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618612

[Term]
id: MONDO:0032834
name: retinitis pigmentosa 86
synonym: "RETINITIS PIGMENTOSA 86; RP86" RELATED [OMIM:618613]
xref: OMIM:618613 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618613"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/618613

[Term]
id: MONDO:0032835
name: spondyloepiphyseal dysplasia, nishimura type
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN" RELATED [OMIM:618618]
xref: OMIM:618618 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/618618

[Term]
id: MONDO:0032836
name: weiss-kruszka syndrome
synonym: "WEISS-KRUSZKA SYNDROME; WSKA" RELATED [OMIM:618619]
xref: OMIM:618619 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618619"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618619

[Term]
id: MONDO:0032837
name: abdominal obesity-metabolic syndrome 4
synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4" RELATED [OMIM:618620]
xref: OMIM:618620 {source="MONDO:equivalentTo"}
is_a: MONDO:0000816 {source="OMIM:618620"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="OMIM:618620"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618620

[Term]
id: MONDO:0032838
name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA" RELATED [OMIM:618622]
xref: OMIM:618622 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618622"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618622

[Term]
id: MONDO:0032839
name: noonan syndrome 12
synonym: "NOONAN SYNDROME 12; NS12" RELATED [OMIM:618624]
xref: OMIM:618624 {source="MONDO:equivalentTo"}
is_a: MONDO:0018997 {source="OMIM:618624"} ! Noonan syndrome
property_value: exactMatch http://identifiers.org/omim/618624

[Term]
id: MONDO:0032841
name: Usher syndrome, type 1M
synonym: "USHER SYNDROME, TYPE 1M; USH1M" RELATED [OMIM:618632]
xref: OMIM:618632 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618632"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618632

[Term]
id: MONDO:0032842
name: siddiqi syndrome
synonym: "Deafness, Dystonia, Developmental Delay, and Poor Growth" RELATED [OMIM:618635]
synonym: "SIDDIQI SYNDROME; SIDDIS" RELATED [OMIM:618635]
xref: OMIM:618635 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618635"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618635

[Term]
id: MONDO:0032843
name: oculopharyngeal myopathy with leukoencephalopathy 1
synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1" RELATED [OMIM:618637]
xref: OMIM:618637 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618637"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618637

[Term]
id: MONDO:0032844
name: infantile liver failure syndrome 3
synonym: "INFANTILE LIVER FAILURE SYNDROME 3; ILFS3" RELATED [OMIM:618641]
xref: OMIM:618641 {source="MONDO:equivalentTo"}
is_a: MONDO:0000023 {source="OMIM:618641"} ! infantile liver failure
property_value: exactMatch http://identifiers.org/omim/618641

[Term]
id: MONDO:0032845
name: spermatogenic failure 39
synonym: "SPERMATOGENIC FAILURE 39; SPGF39" RELATED [OMIM:618643]
xref: OMIM:618643 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618643"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/618643

[Term]
id: MONDO:0032846
name: osteogenesis imperfecta, type 20
synonym: "OSTEOGENESIS IMPERFECTA, TYPE XX; OI20" RELATED [OMIM:618644]
xref: OMIM:618644 {source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="OMIM:618644"} ! osteogenesis imperfecta
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/618644

[Term]
id: MONDO:0032848
name: immunodeficiency 65, susceptibility to viral infections
synonym: "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65" RELATED [OMIM:618648]
xref: OMIM:618648 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618648"} ! Mendelian disease
is_a: MONDO:0021094 {source="OMIM:618648"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/618648

[Term]
id: MONDO:0032849
name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB" RELATED [OMIM:618651]
xref: OMIM:618651 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618651"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618651

[Term]
id: MONDO:0032850
name: neurooculocardiogenitourinary syndrome
synonym: "NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS" RELATED [OMIM:618652]
xref: OMIM:618652 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618652"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618652

[Term]
id: MONDO:0032851
name: intellectual developmental disorder with impaired language and dysmorphic facies
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF" RELATED [OMIM:618653]
xref: OMIM:618653 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618653"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618653

[Term]
id: MONDO:0032852
name: myopathy, congenital, with structured cores and z-line abnormalities
synonym: "Multiple Structured Core Disease" RELATED [OMIM:618654]
synonym: "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ" RELATED [OMIM:618654]
xref: OMIM:618654 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618654"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618654

[Term]
id: MONDO:0032853
name: myopathy, distal, 6, adult-onset, autosomal dominant
synonym: "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6" RELATED [OMIM:618655]
xref: OMIM:618655 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618655"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618655

[Term]
id: MONDO:0032854
name: zimmermann-laband syndrome 3
synonym: "ZIMMERMANN-LABAND SYNDROME 3; ZLS3" RELATED [OMIM:618658]
xref: OMIM:618658 {source="MONDO:equivalentTo"}
is_a: MONDO:0000200 {source="OMIM:618658"} ! Zimmermann-Laband syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/618658

[Term]
id: MONDO:0032855
name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA" RELATED [OMIM:618659]
xref: OMIM:618659 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618659"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618659

[Term]
id: MONDO:0032857
name: diarrhea 11, malabsorptive, congenital
synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11" RELATED [OMIM:618662]
synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [OMIM:618662]
xref: OMIM:618662 {source="MONDO:equivalentTo"}
is_a: MONDO:0000824 {source="OMIM:618662"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618662"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618662

[Term]
id: MONDO:0032858
name: epileptic encephalopathy, early infantile, 81
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81" RELATED [OMIM:618663]
xref: OMIM:618663 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618663"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618663

[Term]
id: MONDO:0032859
name: spermatogenic failure 40
synonym: "SPERMATOGENIC FAILURE 40; SPGF40" RELATED [OMIM:618664]
xref: OMIM:618664 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618664"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/618664

[Term]
id: MONDO:0032860
name: intellectual developmental disorder, autosomal recessive 72
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72" RELATED [OMIM:618665]
synonym: "Mental Retardation, Autosomal Recessive 72" RELATED [OMIM:618665]
xref: OMIM:618665 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618665

[Term]
id: MONDO:0032862
name: hydrocephalus, congenital communicating, 1
synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1" RELATED [OMIM:618667]
xref: OMIM:618667 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618667"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618667

[Term]
id: MONDO:0032863
name: spermatogenic failure 41
synonym: "SPERMATOGENIC FAILURE 41; SPGF41" RELATED [OMIM:618670]
xref: OMIM:618670 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618670"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/618670

[Term]
id: MONDO:0032864
name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF" RELATED [OMIM:618672]
xref: OMIM:618672 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618672"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618672

[Term]
id: MONDO:0032865
name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
synonym: "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5" RELATED [OMIM:618674]
xref: OMIM:618674 {source="MONDO:equivalentTo"}
is_a: MONDO:0000148 {source="OMIM:618674"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0003847 {source="OMIM:618674"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618674

[Term]
id: MONDO:0032866
name: cortical dysplasia, complex, with other brain malformations 10
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10" RELATED [OMIM:618677]
xref: OMIM:618677 {source="MONDO:equivalentTo"}
is_a: MONDO:0000904 {source="OMIM:618677"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/618677

[Term]
id: MONDO:0032867
name: pancreatic cancer, susceptibility to, 5
synonym: "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5" RELATED [OMIM:618680]
xref: OMIM:618680 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618680"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618680

[Term]
id: MONDO:0032868
name: lessel-kubisch syndrome
synonym: "LESSEL-KUBISCH SYNDROME; LSKB" RELATED [OMIM:618681]
xref: OMIM:618681 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618681"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618681

[Term]
id: MONDO:0032869
name: mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6
synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6" RELATED [OMIM:618683]
xref: OMIM:618683 {source="MONDO:equivalentTo"}
is_a: MONDO:0014471 {source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency
property_value: exactMatch http://identifiers.org/omim/618683

[Term]
id: MONDO:0032870
name: intellectual developmental disorder with short stature and behavioral abnormalities
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA" RELATED [OMIM:618687]
xref: OMIM:618687 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618687"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618687

[Term]
id: MONDO:0032871
name: leukodystrophy, hypomyelinating, 19, transient infantile
synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19" RELATED [OMIM:618688]
xref: OMIM:618688 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="OMIM:618688"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/618688

[Term]
id: MONDO:0032872
name: ciliary dyskinesia, primary, 42
synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [OMIM:618695]
synonym: "CILIARY DYSKINESIA, PRIMARY, 42; CILD42" RELATED [OMIM:618695]
xref: OMIM:618695 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618695"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/618695

[Term]
id: MONDO:0032873
name: retinitis pigmentosa 87 with choroidal involvement
synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87" RELATED [OMIM:618697]
xref: OMIM:618697 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618697"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/618697

[Term]
id: MONDO:0032874
name: ciliary dyskinesia, primary, 43
synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [OMIM:618699]
synonym: "CILIARY DYSKINESIA, PRIMARY, 43; CILD43" RELATED [OMIM:618699]
xref: OMIM:618699 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618699"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/618699

[Term]
id: MONDO:0032875
name: short stature and microcephaly with genital anomalies
synonym: "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA" RELATED [OMIM:618702]
xref: OMIM:618702 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618702"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618702

[Term]
id: MONDO:0032876
name: neurodevelopmental disorder with absent language and variable seizures
synonym: "Ito-Raymond Syndrome" RELATED [OMIM:618707]
synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS" RELATED [OMIM:618707]
xref: OMIM:618707 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618707"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618707

[Term]
id: MONDO:0032877
name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
synonym: "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS" RELATED [OMIM:618709]
xref: OMIM:618709 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618709"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618709

[Term]
id: MONDO:0032878
name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
synonym: "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH" RELATED [OMIM:618718]
xref: OMIM:618718 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618718"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618718

[Term]
id: MONDO:0032879
name: megabladder, congenital
synonym: "MEGABLADDER, CONGENITAL; MGBL" RELATED [OMIM:618719]
xref: OMIM:618719 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618719"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618719

[Term]
id: MONDO:0032880
name: epileptic encephalopathy, early infantile, 82
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82" RELATED [OMIM:618721]
synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" RELATED [OMIM:618721]
synonym: "Got2 Deficiency" RELATED [OMIM:618721]
xref: OMIM:618721 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618721"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618721

[Term]
id: MONDO:0032881
name: premature ovarian failure 16
synonym: "PREMATURE OVARIAN FAILURE 16; POF16" RELATED [OMIM:618723]
xref: OMIM:618723 {source="MONDO:equivalentTo"}
is_a: MONDO:0019852 ! inherited primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/618723

[Term]
id: MONDO:0032882
name: Heyn-Sproul-Jackson syndrome
synonym: "HEYN-SPROUL-JACKSON SYNDROME; HESJAS" RELATED [OMIM:618724]
synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [OMIM:618724]
xref: OMIM:618724 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618724"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618724

[Term]
id: MONDO:0032883
name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS" RELATED [OMIM:618725]
xref: OMIM:618725 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618725"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618725

[Term]
id: MONDO:0032884
name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB" RELATED [OMIM:618727]
xref: OMIM:618727 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618727"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618727

[Term]
id: MONDO:0032885
name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST" RELATED [OMIM:618728]
xref: OMIM:618728 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618728"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618728

[Term]
id: MONDO:0032886
name: Liang-Wang syndrome
synonym: "LIANG-WANG SYNDROME; LIWAS" RELATED [OMIM:618729]
xref: OMIM:618729 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618729"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618729

[Term]
id: MONDO:0032887
name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS" RELATED [OMIM:618730]
synonym: "Vandervore-Schot Syndrome" RELATED [OMIM:618730]
xref: OMIM:618730 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618730"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618730

[Term]
id: MONDO:0032888
name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC" RELATED [OMIM:618731]
xref: OMIM:618731 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618731"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618731

[Term]
id: MONDO:0032889
name: Poirier-Bienvenu neurodevelopmental syndrome
synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS" RELATED [OMIM:618732]
xref: OMIM:618732 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618732"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618732

[Term]
id: MONDO:0032890
name: neuromuscular disease and ocular or auditory anomalies with or without seizures
synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES; NMOAS" RELATED [OMIM:618733]
xref: OMIM:618733 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618733"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618733

[Term]
id: MONDO:0032891
name: aneurysm, intracranial berry, 12
synonym: "ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12" RELATED [OMIM:618734]
xref: OMIM:618734 {source="MONDO:equivalentTo"}
is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm
property_value: exactMatch http://identifiers.org/omim/618734

[Term]
id: MONDO:0032892
name: structural brain anomalies with impaired intellectual development and craniosynostosis
synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS" RELATED [OMIM:618736]
xref: OMIM:618736 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618736"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618736

[Term]
id: MONDO:0032893
name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS" RELATED [OMIM:618737]
xref: OMIM:618737 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618737"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618737

[Term]
id: MONDO:0032894
name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA" RELATED [OMIM:618741]
xref: OMIM:618741 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618741"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618741

[Term]
id: MONDO:0032895
name: epileptic encephalopathy, early infantile, 83
synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83" RELATED [OMIM:618744]
xref: OMIM:618744 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618744"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618744

[Term]
id: MONDO:0032896
name: spermatogenic failure 42
synonym: "SPERMATOGENIC FAILURE 42; SPGF42" RELATED [OMIM:618745]
xref: OMIM:618745 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618745"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/618745

[Term]
id: MONDO:0032897
name: intellectual developmental disorder with hypotonia and behavioral abnormalities
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA" RELATED [OMIM:618748]
xref: OMIM:618748 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618748"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618748

[Term]
id: MONDO:0032898
name: spermatogenic failure 43
synonym: "SPERMATOGENIC FAILURE 43; SPGF43" RELATED [OMIM:618751]
xref: OMIM:618751 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618751"} ! azoospermia
is_a: MONDO:0017143 ! genetic infertility
property_value: exactMatch http://identifiers.org/omim/618751

[Term]
id: MONDO:0032899
name: neutropenia, severe congenital, 8, autosomal dominant
synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752]
synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8" RELATED [OMIM:618752]
synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752]
xref: OMIM:618752 {source="MONDO:equivalentTo"}
is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia
property_value: exactMatch http://identifiers.org/omim/618752

[Term]
id: MONDO:0032900
name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM" RELATED [OMIM:618760]
xref: OMIM:618760 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618760"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618760

[Term]
id: MONDO:0032901
name: Catifa syndrome
synonym: "CATIFA SYNDROME; CATIFA" RELATED [OMIM:618761]
synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [OMIM:618761]
xref: OMIM:618761 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618761"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618761

[Term]
id: MONDO:0032902
name: Joubert syndrome 36
synonym: "JOUBERT SYNDROME 36; JBTS36" RELATED [OMIM:618763]
xref: OMIM:618763 {source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome
property_value: exactMatch http://identifiers.org/omim/618763

[Term]
id: MONDO:0032903
name: arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMCNACC" RELATED [OMIM:618766]
synonym: "Zain Syndrome" RELATED [OMIM:618766]
xref: OMIM:618766 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618766"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618766

[Term]
id: MONDO:0032904
name: corneal dystrophy, Meesmann, 2
synonym: "CORNEAL DYSTROPHY, MEESMANN, 2; MECD2" RELATED [OMIM:618767]
xref: OMIM:618767 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618767"} ! Mendelian disease
is_a: MONDO:0007379 {source="OMIM:618767"} ! Meesmann corneal dystrophy
property_value: exactMatch http://identifiers.org/omim/618767

[Term]
id: MONDO:0032905
name: spastic paraplegia 81, autosomal recessive
synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81" RELATED [OMIM:618768]
xref: OMIM:618768 {source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia
property_value: exactMatch http://identifiers.org/omim/618768

[Term]
id: MONDO:0032906
name: spastic paraplegia 82, autosomal recessive
synonym: "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82" RELATED [OMIM:618770]
xref: OMIM:618770 {source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia
property_value: exactMatch http://identifiers.org/omim/618770

[Term]
id: MONDO:0032907
name: lymphatic malformation 8
synonym: "LYMPHATIC MALFORMATION 8; LMPHM8" RELATED [OMIM:618773]
xref: OMIM:618773 {source="MONDO:equivalentTo"}
is_a: MONDO:0019313 {source="OMIM:618773"} ! hereditary lymphedema
property_value: exactMatch http://identifiers.org/omim/618773

[Term]
id: MONDO:0032908
name: CEBALID syndrome
synonym: "CEBALID SYNDROME; CEBALID" RELATED [OMIM:618774]
synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [OMIM:618774]
xref: OMIM:618774 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618774"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618774

[Term]
id: MONDO:0032909
name: mitochondrial complex 3 deficiency, nuclear type 10
synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10" RELATED [OMIM:618775]
xref: OMIM:618775 {source="MONDO:equivalentTo"}
is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type
property_value: exactMatch http://identifiers.org/omim/618775

[Term]
id: MONDO:0032910
name: mitochondrial complex 1 deficiency, nuclear type 34
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34" RELATED [OMIM:618776]
xref: OMIM:618776 {source="MONDO:equivalentTo"}
is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
property_value: exactMatch http://identifiers.org/omim/618776

[Term]
id: MONDO:0032911
name: deafness, autosomal dominant 75
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75" RELATED [OMIM:618778]
xref: OMIM:618778 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618778

[Term]
id: MONDO:0032912
name: Coffin-Siris syndrome 11
synonym: "COFFIN-SIRIS SYNDROME 11; CSS11" RELATED [OMIM:618779]
xref: OMIM:618779 {source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome
property_value: exactMatch http://identifiers.org/omim/618779

[Term]
id: MONDO:0032913
name: congenital heart defects, multiple types, 7
synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7" RELATED [OMIM:618780]
xref: OMIM:618780 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618780"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618780

[Term]
id: MONDO:0032914
name: ciliary dyskinesia, primary, 44
synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781]
synonym: "CILIARY DYSKINESIA, PRIMARY, 44; CILD44" RELATED [OMIM:618781]
xref: OMIM:618781 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/618781

[Term]
id: MONDO:0032915
name: long QT syndrome 16
synonym: "LONG QT SYNDROME 16; LQT16" RELATED [OMIM:618782]
synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [OMIM:618782]
xref: OMIM:618782 {source="MONDO:equivalentTo"}
is_a: MONDO:0017990 {source="OMIM:618782"} ! catecholaminergic polymorphic ventricular tachycardia
is_a: MONDO:0019171 {source="OMIM:618782"} ! familial long QT syndrome
property_value: exactMatch http://identifiers.org/omim/618782

[Term]
id: MONDO:0032916
name: Imagawa-Matsumoto syndrome
synonym: "IMAGAWA-MATSUMOTO SYNDROME; IMMAS" RELATED [OMIM:618786]
xref: OMIM:618786 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618786"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618786

[Term]
id: MONDO:0032917
name: deafness, autosomal dominant 76
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76" RELATED [OMIM:618787]
xref: OMIM:618787 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618787

[Term]
id: MONDO:0032918
name: epileptic encephalopathy, early infantile, 84
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84" RELATED [OMIM:618792]
synonym: "Jamuar Syndrome" RELATED [OMIM:618792]
xref: OMIM:618792 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618792"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch http://identifiers.org/omim/618792

[Term]
id: MONDO:0032919
name: intellectual developmental disorder 62
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62; MRD62" RELATED [OMIM:618793]
synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [OMIM:618793]
xref: OMIM:618793 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618793

[Term]
id: MONDO:0032920
name: juvenile arthritis due to defect in LACC1
synonym: "JUVENILE ARTHRITIS; JUVAR" RELATED [OMIM:618795]
xref: OMIM:618795 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618795"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618795

[Term]
id: MONDO:0032921
name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT" RELATED [OMIM:618797]
xref: OMIM:618797 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618797"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618797

[Term]
id: MONDO:0032922
name: Beck-Fahrner syndrome
synonym: "BECK-FAHRNER SYNDROME; BEFAHRS" RELATED [OMIM:618798]
xref: OMIM:618798 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618798"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618798

[Term]
id: MONDO:0032923
name: spinocerebellar ataxia, autosomal recessive 28
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28" RELATED [OMIM:618800]
xref: OMIM:618800 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/618800

[Term]
id: MONDO:0032924
name: ciliary dyskinesia, primary, 45
synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801]
synonym: "CILIARY DYSKINESIA, PRIMARY, 45; CILD45" RELATED [OMIM:618801]
xref: OMIM:618801 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/618801

[Term]
id: MONDO:0032925
name: respiratory papillomatosis, juvenile recurrent, congenital
synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP" RELATED [OMIM:618803]
xref: OMIM:618803 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618803"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618803

[Term]
id: MONDO:0032926
name: sandestig-stefanova syndrome
synonym: "SANDESTIG-STEFANOVA SYNDROME; SANDSTEF" RELATED [OMIM:618804]
xref: OMIM:618804 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618804"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618804

[Term]
id: MONDO:0032927
name: triokinase and FMN cyclase deficiency syndrome
synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD" RELATED [OMIM:618805]
xref: OMIM:618805 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618805"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618805

[Term]
id: MONDO:0032928
name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND" RELATED [OMIM:618806]
xref: OMIM:618806 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618806"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618806

[Term]
id: MONDO:0032930
name: intellectual developmental disorder with poor growth and with or without seizures or ataxia
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA" RELATED [OMIM:618808]
xref: OMIM:618808 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618808"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618808

[Term]
id: MONDO:0032931
name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810]
synonym: "Phrinl Syndrome" RELATED [OMIM:618810]
synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL" RELATED [OMIM:618810]
xref: OMIM:618810 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618810"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618810

[Term]
id: MONDO:0032932
name: mitochondrial dna depletion syndrome 18
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18" RELATED [OMIM:618811]
xref: OMIM:618811 {source="MONDO:equivalentTo"}
is_a: MONDO:0018158 {source="OMIM:618811"} ! mitochondrial DNA depletion syndrome
property_value: exactMatch http://identifiers.org/omim/618811

[Term]
id: MONDO:0032933
name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant
synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" RELATED [OMIM:618815]
xref: OMIM:618815 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618815"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618815

[Term]
id: MONDO:0032934
name: genitourinary and/or brain malformation syndrome
synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS" RELATED [OMIM:618820]
xref: OMIM:618820 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618820"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618820

[Term]
id: MONDO:0032935
name: rhizomelic limb shortening with dysmorphic features
synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF" RELATED [OMIM:618821]
xref: OMIM:618821 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618821"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618821

[Term]
id: MONDO:0032936
name: myopathy, congenital, with respiratory insufficiency and bone fractures
synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF" RELATED [OMIM:618822]
xref: OMIM:618822 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618822"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618822

[Term]
id: MONDO:0032937
name: myopathy, congenital proximal, with minicore lesions
synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL" RELATED [OMIM:618823]
xref: OMIM:618823 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618823"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618823

[Term]
id: MONDO:0032938
name: basal ganglia calcification, idiopathic, 8, autosomal recessive
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8" RELATED [OMIM:618824]
xref: OMIM:618824 {source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis
property_value: exactMatch http://identifiers.org/omim/618824

[Term]
id: MONDO:0032939
name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63" RELATED [OMIM:618825]
synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [OMIM:618825]
xref: OMIM:618825 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618825"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618825

[Term]
id: MONDO:0032940
name: retinitis pigmentosa 88
synonym: "RETINITIS PIGMENTOSA 88; RP88" RELATED [OMIM:618826]
xref: OMIM:618826 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/618826

[Term]
id: MONDO:0032941
name: myopia 27
synonym: "MYOPIA 27; MYP27" RELATED [OMIM:618827]
xref: OMIM:618827 {source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="OMIM:618827"} ! myopia (disease)
is_a: MONDO:0003847 {source="OMIM:618827"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618827

[Term]
id: MONDO:0032942
name: neurodevelopmental disorder with microcephaly and dysmorphic facies
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES; NEDMIDF" RELATED [OMIM:618828]
xref: OMIM:618828 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618828"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618828

[Term]
id: MONDO:0032943
name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES; NEDMACE" RELATED [OMIM:618829]
xref: OMIM:618829 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618829"} ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618829

[Term]
id: MONDO:0033004
name: polycystic kidney disease 4
def: "A autosomal dominant polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene." [DOID:0080212]
synonym: "hepatic fibrosis, congenital" RELATED [OMIM:263200]
synonym: "PKD3" RELATED DEPRECATED [OMIM:263200]
synonym: "PKD3, formerly" RELATED [OMIM:263200]
synonym: "PKD4" RELATED [OMIM:263200]
synonym: "polycystic kidney and hepatic disease 1" RELATED [OMIM:263200]
synonym: "polycystic kidney disease 4" EXACT [DOID:0080212]
synonym: "polycystic kidney disease 4 with or without hepatic disease" RELATED [OMIM:263200]
synonym: "polycystic kidney disease 4 with or without polycystic liver disease; PKD4" RELATED [OMIM:263200]
synonym: "polycystic kidney disease, autosomal recessive" RELATED [OMIM:263200]
synonym: "polycystic kidney disease, infantile, type 1" RELATED [OMIM:263200]
xref: DOID:0080212 {source="MONDO:equivalentTo"}
xref: OMIM:263200 {source="MONDO:equivalentTo", source="DOID:0080212"}
is_a: MONDO:0009889 ! autosomal recessive polycystic kidney disease
relationship: disease_causes_feature MONDO:0001558 {source="GARD:0004462", source="https://en.wikipedia.org/wiki/Potter_sequence"} ! Potter sequence
relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080212"} ! autosomal dominant polycystic kidney disease
property_value: exactMatch DOID:0080212
property_value: exactMatch http://identifiers.org/omim/263200

[Term]
id: MONDO:0033005
name: Galloway-Mowat syndrome 1
synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED [OMIM:251300]
synonym: "Galloway syndrome" RELATED [OMIM:251300]
synonym: "Galloway-Mowat syndrome 1; GAMOS1" RELATED [OMIM:251300]
synonym: "GAMOS1" RELATED [OMIM:251300]
synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [OMIM:251300]
synonym: "nephrosis-microcephaly syndrome" RELATED [OMIM:251300]
synonym: "nephrosis-neuronal dysmigration syndrome" RELATED [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5" RELATED [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300]
xref: OMIM:251300 {source="MONDO:equivalentTo"}
xref: UMLS:CN031715 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="OMIM:251300"} ! Galloway-Mowat syndrome
property_value: exactMatch http://identifiers.org/omim/251300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN031715

[Term]
id: MONDO:0033006
name: Galloway-Mowat syndrome 2, X-linked
synonym: "Galloway-Mowat syndrome 2" RELATED [DOID:0080244]
synonym: "Galloway-Mowat syndrome 2, X-linked; GAMOS2" RELATED [OMIM:301006]
synonym: "GAMOS2" RELATED [OMIM:301006]
xref: DOID:0080244 {source="MONDO:equivalentTo"}
xref: OMIM:301006 {source="DOID:0080244", source="MONDO:equivalentTo"}
xref: UMLS:CN570502 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="DOID:0080244", source="OMIM:301006"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4538784
property_value: exactMatch DOID:0080244
property_value: exactMatch http://identifiers.org/omim/301006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN570502

[Term]
id: MONDO:0033007
name: Galloway-Mowat syndrome 3
synonym: "Galloway-Mowat syndrome 3; GAMOS3" RELATED [OMIM:617729]
synonym: "GAMOS3" RELATED [OMIM:617729]
xref: DOID:0080245 {source="MONDO:equivalentTo"}
xref: OMIM:617729 {source="MONDO:equivalentTo", source="DOID:0080245"}
xref: UMLS:CN570505 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="DOID:0080245", source="OMIM:617729"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540266
property_value: exactMatch DOID:0080245
property_value: exactMatch http://identifiers.org/omim/617729
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN570505

[Term]
id: MONDO:0033008
name: Galloway-Mowat syndrome 4
synonym: "Galloway-Mowat syndrome 4; GAMOS4" RELATED [OMIM:617730]
synonym: "GAMOS4" RELATED [OMIM:617730]
xref: DOID:0080246 {source="MONDO:equivalentTo"}
xref: OMIM:617730 {source="DOID:0080246", source="MONDO:equivalentTo"}
xref: UMLS:CN570506 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="DOID:0080246", source="OMIM:617730"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540270
property_value: exactMatch DOID:0080246
property_value: exactMatch http://identifiers.org/omim/617730
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN570506

[Term]
id: MONDO:0033009
name: Galloway-Mowat syndrome 5
synonym: "Galloway-Mowat syndrome 5; GAMOS5" RELATED [OMIM:617731]
synonym: "GAMOS5" RELATED [OMIM:617731]
xref: DOID:0080247 {source="MONDO:equivalentTo"}
xref: OMIM:617731 {source="MONDO:equivalentTo", source="DOID:0080247"}
xref: UMLS:CN570507 {source="MONDO:equivalentTo"}
is_a: MONDO:0009627 {source="DOID:0080247", source="OMIM:617731"} ! Galloway-Mowat syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540274
property_value: exactMatch DOID:0080247
property_value: exactMatch http://identifiers.org/omim/617731
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN570507

[Term]
id: MONDO:0033010
name: erythrokeratodermia variabilis et progressiva 1
synonym: "EKVP1" RELATED [OMIM:133200]
synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis Et progressiva" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva 1; EKVP1" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200]
synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200]
synonym: "Greither disease" RELATED [OMIM:133200]
synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200]
xref: OMIM:133200 {source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="OMIM:133200"} ! erythrokeratodermia variabilis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851479
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851480
property_value: exactMatch http://identifiers.org/omim/133200

[Term]
id: MONDO:0033012
name: erythrokeratodermia variabilis et progressiva 2
synonym: "EKVP2" RELATED [OMIM:617524]
synonym: "erythrokeratodermia variabilis ET progressiva 2; EKVP2" RELATED [OMIM:617524]
xref: DOID:0080248 {source="MONDO:equivalentTo"}
xref: OMIM:617524 {source="MONDO:equivalentTo", source="DOID:0080248"}
xref: UMLS:C4479618 {source="MEDGEN:kboom-pr98-c99", source="OMIM:617524", source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="DOID:0080248", source="OMIM:617524"} ! erythrokeratodermia variabilis
property_value: exactMatch DOID:0080248
property_value: exactMatch http://identifiers.org/omim/617524
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479618

[Term]
id: MONDO:0033013
name: erythrokeratodermia variabilis et progressiva 3
synonym: "EKVP3" RELATED [OMIM:617525]
synonym: "erythrokeratodermia variabilis ET progressiva 3; EKVP3" RELATED [OMIM:617525]
xref: DOID:0080249 {source="MONDO:equivalentTo"}
xref: OMIM:617525 {source="MONDO:equivalentTo", source="DOID:0080249"}
xref: UMLS:C4479619 {source="MEDGEN:kboom-pr98-c99", source="OMIM:617525", source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="DOID:0080249", source="OMIM:617525"} ! erythrokeratodermia variabilis
property_value: exactMatch DOID:0080249
property_value: exactMatch http://identifiers.org/omim/617525
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479619

[Term]
id: MONDO:0033014
name: erythrokeratodermia variabilis et progressiva 4
synonym: "EKVP4" RELATED [OMIM:617526]
synonym: "erythrokeratodermia variabilis ET progressiva 4; EKVP4" RELATED [OMIM:617526]
xref: DOID:0080250 {source="MONDO:equivalentTo"}
xref: OMIM:617526 {source="DOID:0080250", source="MONDO:equivalentTo"}
xref: UMLS:C4479620 {source="MEDGEN:kboom-pr98-c99", source="OMIM:617526", source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="DOID:0080250", source="OMIM:617526"} ! erythrokeratodermia variabilis
property_value: exactMatch DOID:0080250
property_value: exactMatch http://identifiers.org/omim/617526
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479620

[Term]
id: MONDO:0033015
name: erythrokeratodermia variabilis et progressiva 5
synonym: "EKVP5" RELATED [OMIM:617756]
synonym: "erythrokeratodermia variabilis ET progressiva 5; EKVP5" RELATED [OMIM:617756]
xref: DOID:0080251 {source="MONDO:equivalentTo"}
xref: OMIM:617756 {source="MONDO:equivalentTo"}
is_a: MONDO:0017851 {source="DOID:0080251", source="OMIM:617756"} ! erythrokeratodermia variabilis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540331
property_value: exactMatch DOID:0080251
property_value: exactMatch http://identifiers.org/omim/617756

[Term]
id: MONDO:0033043
name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
subset: ordo_disease
synonym: "spastic ataxia 8" RELATED [DOID:0080252]
synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy; SPAX8" RELATED [OMIM:617560]
synonym: "SPAX8" RELATED [OMIM:617560]
xref: DOID:0080252 {source="MONDO:equivalentTo"}
xref: OMIM:617560 {source="DOID:0080252", source="MONDO:equivalentTo", source="Orphanet:527497"}
xref: Orphanet:527497 {source="MONDO:equivalentTo"}
xref: UMLS:C4479653 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617560"}
is_a: MONDO:0017847 {source="Orphanet:527497"} ! autosomal recessive spastic ataxia
is_a: MONDO:0019046 {source="Orphanet:527497"} ! leukodystrophy
property_value: exactMatch DOID:0080252
property_value: exactMatch http://identifiers.org/omim/617560
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479653
property_value: exactMatch Orphanet:527497

[Term]
id: MONDO:0033044
name: Meckel syndrome 13
synonym: "Joubert syndrome 29" RELATED [OMIM:617562]
synonym: "Meckel syndrome 13; MKS13" RELATED [OMIM:617562]
synonym: "MKS13" RELATED [OMIM:617562]
xref: DOID:0080253 {source="MONDO:equivalentTo"}
xref: DOID:0080276 {source="MONDO:equivalentTo"}
xref: OMIM:617562 {source="DOID:0080253", source="MONDO:equivalentTo"}
is_a: MONDO:0018921 {source="DOID:0080253", source="OMIM:617562"} ! Meckel syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539714
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539715
property_value: exactMatch DOID:0080253
property_value: exactMatch DOID:0080276
property_value: exactMatch http://identifiers.org/omim/617562

[Term]
id: MONDO:0033045
name: orofaciodigital syndrome 16
synonym: "OFD16" RELATED [OMIM:617563]
synonym: "Ofds 16" RELATED [OMIM:617563]
synonym: "oral-Facial-digital syndrome, type 16" RELATED [OMIM:617563]
synonym: "orofaciodigital syndrome XVI" RELATED [DOID:0080254]
synonym: "orofaciodigital syndrome XVI; OFD16" RELATED [OMIM:617563]
xref: DOID:0080254 {source="MONDO:equivalentTo"}
xref: OMIM:617563 {source="DOID:0080254", source="MONDO:equivalentTo"}
xref: UMLS:CN317535 {source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="DOID:0080254"} ! orofaciodigital syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539729
property_value: exactMatch DOID:0080254
property_value: exactMatch http://identifiers.org/omim/617563
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN317535

[Term]
id: MONDO:0033046
name: Meier-Gorlin syndrome 8
synonym: "Meier-Gorlin syndrome 8; MGORS8" RELATED [OMIM:617564]
synonym: "MGORS8" RELATED [OMIM:617564]
xref: DOID:0080255 {source="MONDO:equivalentTo"}
xref: OMIM:617564 {source="DOID:0080255", source="MONDO:equivalentTo"}
xref: UMLS:C4479655 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617564"}
is_a: MONDO:0016817 {source="DOID:0080255", source="OMIM:617564"} ! Meier-Gorlin syndrome
property_value: exactMatch DOID:0080255
property_value: exactMatch http://identifiers.org/omim/617564
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479655

[Term]
id: MONDO:0033047
name: Perrault syndrome 6
synonym: "Perrault syndrome 6; PRLTS6" RELATED [OMIM:617565]
synonym: "PRLTS6" RELATED [OMIM:617565]
xref: DOID:0080256 {source="MONDO:equivalentTo"}
xref: OMIM:617565 {source="MONDO:equivalentTo", source="DOID:0080256"}
xref: UMLS:C4479656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617565"}
is_a: MONDO:0017312 {source="DOID:0080256", source="OMIM:617565"} ! Perrault syndrome
property_value: exactMatch DOID:0080256
property_value: exactMatch http://identifiers.org/omim/617565
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479656

[Term]
id: MONDO:0033091
name: ichthyosis, congenital, autosomal recessive 14
synonym: "ARCI14" RELATED [OMIM:617571]
synonym: "autosomal recessive congenital ichthyosis 14" RELATED [DOID:0080258]
synonym: "ichthyosis, congenital, autosomal recessive 14; ARCI14" RELATED [OMIM:617571]
xref: DOID:0080258 {source="MONDO:equivalentTo"}
xref: OMIM:617571 {source="MONDO:equivalentTo", source="DOID:0080258"}
xref: UMLS:CN317536 {source="MONDO:equivalentTo"}
is_a: MONDO:0017265 {source="DOID:0080258", source="OMIM:617571"} ! autosomal recessive congenital ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539754
property_value: exactMatch DOID:0080258
property_value: exactMatch http://identifiers.org/omim/617571
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN317536

[Term]
id: MONDO:0033092
name: ichthyosis, congenital, autosomal recessive 13
synonym: "ARCI13" RELATED [OMIM:617574]
synonym: "autosomal recessive congenital ichthyosis 13" RELATED [DOID:0080257]
synonym: "ichthyosis, congenital, autosomal recessive 13; ARCI13" RELATED [OMIM:617574]
xref: DOID:0080257 {source="MONDO:equivalentTo"}
xref: OMIM:617574 {source="DOID:0080257", source="MONDO:equivalentTo"}
xref: UMLS:CN321864 {source="MONDO:equivalentTo"}
is_a: MONDO:0017265 {source="DOID:0080257", source="OMIM:617574"} ! autosomal recessive congenital ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539772
property_value: exactMatch DOID:0080257
property_value: exactMatch http://identifiers.org/omim/617574
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN321864

[Term]
id: MONDO:0033115
name: spinocerebellar ataxia, autosomal recessive 25
synonym: "autosomal recessive spinocerebellar ataxia 25" RELATED [DOID:0080259]
synonym: "SCAR25" RELATED [OMIM:617584]
synonym: "spinocerebellar ataxia, autosomal recessive 25; SCAR25" RELATED [OMIM:617584]
xref: DOID:0080259 {source="MONDO:equivalentTo"}
xref: OMIM:617584 {source="MONDO:equivalentTo", source="DOID:0080259"}
xref: UMLS:CN349871 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="DOID:0080259", source="MONDOLEX"} ! autosomal recessive cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539808
property_value: exactMatch DOID:0080259
property_value: exactMatch http://identifiers.org/omim/617584
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN349871

[Term]
id: MONDO:0033116
name: spinocerebellar ataxia, autosomal recessive 26
synonym: "autosomal recessive spinocerebellar ataxia 26" RELATED [DOID:0080260]
synonym: "SCAR26" RELATED [OMIM:617633]
synonym: "spinocerebellar ataxia, autosomal recessive 26; SCAR26" RELATED [OMIM:617633]
xref: DOID:0080260 {source="MONDO:equivalentTo"}
xref: OMIM:617633 {source="MONDO:equivalentTo", source="DOID:0080260"}
xref: UMLS:CN417133 {source="MONDO:equivalentTo"}
is_a: MONDO:0015244 {source="DOID:0080260", source="MONDOLEX"} ! autosomal recessive cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539948
property_value: exactMatch DOID:0080260
property_value: exactMatch http://identifiers.org/omim/617633
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN417133

[Term]
id: MONDO:0033123
name: exudative vitreoretinopathy 7
synonym: "EVR7" RELATED [OMIM:617572]
synonym: "exudative vitreoretinopathy 7; EVR7" RELATED [OMIM:617572]
xref: DOID:0080264 {source="MONDO:equivalentTo"}
xref: OMIM:617572 {source="DOID:0080264", source="MONDO:equivalentTo"}
xref: UMLS:CN321863 {source="MONDO:equivalentTo"}
is_a: MONDO:0019516 {source="DOID:0080264", source="OMIM:617572"} ! exudative vitreoretinopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539767
property_value: exactMatch DOID:0080264
property_value: exactMatch http://identifiers.org/omim/617572
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN321863

[Term]
id: MONDO:0033135
name: pmp2-related charcot-marie-tooth disease type 1
subset: ordo_disease
xref: OMIM:618279 {source="MONDO:equivalentTo", source="Orphanet:476394"}
xref: Orphanet:476394 {source="MONDO:equivalentTo"}
is_a: MONDO:0015359 {source="Orphanet:476394"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy
property_value: exactMatch http://identifiers.org/omim/618279
property_value: exactMatch Orphanet:476394

[Term]
id: MONDO:0033187
name: combined oxidative phosphorylation defect type 29
subset: ordo_disease
xref: Orphanet:478029 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0018157 {source="Orphanet:478029"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0024237 {source="Orphanet:478029"} ! inherited neurodegenerative disorder
property_value: exactMatch Orphanet:478029

[Term]
id: MONDO:0033196
name: obsolete skin/hair/eye pigmentation, variation in
xref: OMIMPS:227220 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0033198
name: deafness, autosomal recessive 106
synonym: "autosomal recessive nonsyndromic deafness 106" RELATED [DOID:0080261]
synonym: "deafness, autosomal recessive 106; DFNB106" RELATED [OMIM:617637]
synonym: "DFNB106" RELATED [OMIM:617637]
xref: DOID:0080261 {source="MONDO:equivalentTo"}
xref: OMIM:617637 {source="DOID:0080261", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DOID:0080261", source="OMIM:617637"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539954
property_value: exactMatch DOID:0080261
property_value: exactMatch http://identifiers.org/omim/617637

[Term]
id: MONDO:0033199
name: deafness, autosomal recessive 107
synonym: "autosomal recessive nonsyndromic deafness 107" RELATED [DOID:0080262]
synonym: "deafness, autosomal recessive 107; DFNB107" RELATED [OMIM:617639]
synonym: "DFNB107" RELATED [OMIM:617639]
xref: DOID:0080262 {source="MONDO:equivalentTo"}
xref: OMIM:617639 {source="DOID:0080262", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DOID:0080262", source="OMIM:617639"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539964
property_value: exactMatch DOID:0080262
property_value: exactMatch http://identifiers.org/omim/617639

[Term]
id: MONDO:0033200
name: deafness, autosomal recessive 108
synonym: "autosomal recessive nonsyndromic deafness 108" RELATED [DOID:0080263]
synonym: "deafness, autosomal recessive 108; DFNB108" RELATED [OMIM:617654]
synonym: "DFNB108" RELATED [OMIM:617654]
xref: DOID:0080263 {source="MONDO:equivalentTo"}
xref: OMIM:617654 {source="DOID:0080263", source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="DOID:0080263", source="OMIM:617654"} ! autosomal recessive nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539997
property_value: exactMatch DOID:0080263
property_value: exactMatch http://identifiers.org/omim/617654

[Term]
id: MONDO:0033201
name: deafness, autosomal recessive 57
synonym: "deafness, autosomal recessive 57; DFNB57" RELATED [OMIM:618003]
synonym: "DFNB57" RELATED [OMIM:618003]
xref: OMIM:618003 {source="MONDO:equivalentTo"}
xref: UMLS:CN248511 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618003"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248511

[Term]
id: MONDO:0033202
name: deafness, autosomal recessive 109
synonym: "deafness, autosomal recessive 109; DFNB109" RELATED [OMIM:618013]
synonym: "DFNB109" RELATED [OMIM:618013]
xref: OMIM:618013 {source="MONDO:equivalentTo"}
xref: UMLS:CN248519 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618013"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618013
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248519

[Term]
id: MONDO:0033203
name: nephrotic syndrome 14
subset: ordo_disease
synonym: "familial steroid-resistant nephrotic syndrome with adrenal insufficiency" RELATED [Orphanet:506334]
synonym: "nephrotic syndrome 14; NPHS14" RELATED [OMIM:617575]
synonym: "NPHS14" RELATED [OMIM:617575]
synonym: "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" EXACT [Orphanet:506334]
xref: DOID:0080265 {source="MONDO:equivalentTo"}
xref: OMIM:617575 {source="DOID:0080265", source="MONDO:equivalentTo", source="Orphanet:506334"}
xref: Orphanet:506334 {source="MONDO:equivalentTo", source="OMIM:617575"}
xref: UMLS:CN339707 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="DOID:0080265", source="MONDO:Redundant", source="OMIM:617575"} ! familial nephrotic syndrome
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018117 {source="Orphanet:506334"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019987 {source="Orphanet:506334"} ! congenital and infantile nephrotic syndrome
is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539778
property_value: exactMatch DOID:0080265
property_value: exactMatch http://identifiers.org/omim/617575
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN339707
property_value: exactMatch Orphanet:506334

[Term]
id: MONDO:0033204
name: ciliary dyskinesia, primary, 37
synonym: "CILD37" RELATED [OMIM:617577]
synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [OMIM:617577]
synonym: "ciliary dyskinesia, primary, 37; CILD37" RELATED [OMIM:617577]
synonym: "primary ciliary dyskinesia 37" RELATED [DOID:0080266]
xref: DOID:0080266 {source="MONDO:equivalentTo"}
xref: OMIM:617577 {source="DOID:0080266", source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="DOID:0080266", source="MONDOLEX:0033204", source="OMIM:617577"} ! primary ciliary dyskinesia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539798
property_value: exactMatch DOID:0080266
property_value: exactMatch http://identifiers.org/omim/617577

[Term]
id: MONDO:0033211
name: diencephalic-mesencephalic junction dysplasia syndrome
xref: OMIMPS:251280 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease

[Term]
id: MONDO:0033258
name: deafness, autosomal dominant 71
synonym: "autosomal dominant nonsyndromic deafness 71" RELATED [DOID:0080267]
synonym: "deafness, autosomal dominant 71; DFNA71" RELATED [OMIM:617605]
synonym: "DFNA71" RELATED [OMIM:617605]
xref: DOID:0080267 {source="MONDO:equivalentTo"}
xref: OMIM:617605 {source="MONDO:equivalentTo", source="DOID:0080267"}
is_a: MONDO:0019587 {source="DOID:0080267", source="OMIM:617605"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539881
property_value: exactMatch DOID:0080267
property_value: exactMatch http://identifiers.org/omim/617605

[Term]
id: MONDO:0033259
name: deafness, autosomal dominant 72
synonym: "autosomal dominant nonsyndromic deafness 72" RELATED [DOID:0080268]
synonym: "deafness, autosomal dominant 72; DFNA72" RELATED [OMIM:617606]
synonym: "DFNA72" RELATED [OMIM:617606]
xref: DOID:0080268 {source="MONDO:equivalentTo"}
xref: OMIM:617606 {source="DOID:0080268", source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DOID:0080268", source="OMIM:617606"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539886
property_value: exactMatch DOID:0080268
property_value: exactMatch http://identifiers.org/omim/617606

[Term]
id: MONDO:0033260
name: deafness, autosomal dominant 73
synonym: "autosomal dominant nonsyndromic deafness 73" RELATED [DOID:0080269]
synonym: "deafness, autosomal dominant 73; DFNA73" RELATED [OMIM:617663]
synonym: "DFNA73" RELATED [OMIM:617663]
xref: DOID:0080269 {source="MONDO:equivalentTo"}
xref: OMIM:617663 {source="MONDO:equivalentTo", source="DOID:0080269"}
xref: UMLS:CN461628 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DOID:0080269", source="OMIM:617663"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540024
property_value: exactMatch DOID:0080269
property_value: exactMatch http://identifiers.org/omim/617663
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN461628

[Term]
id: MONDO:0033261
name: deafness, autosomal dominant 34, with or without inflammation
synonym: "autosomal dominant nonsyndromic deafness 34" RELATED [DOID:0080270]
synonym: "deafness, autosomal dominant 34, with or without inflammation; DFNA34" RELATED [OMIM:617772]
synonym: "DFNA34" RELATED [OMIM:617772]
xref: DOID:0080270 {source="MONDO:equivalentTo"}
xref: OMIM:617772 {source="MONDO:equivalentTo", source="DOID:0080270"}
xref: UMLS:CN653906 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="DOID:0080270", source="OMIM:617772"} ! autosomal dominant nonsyndromic deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4521680
property_value: exactMatch DOID:0080270
property_value: exactMatch http://identifiers.org/omim/617772
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN653906

[Term]
id: MONDO:0033262
name: nephrotic syndrome 15
synonym: "nephrotic syndrome 15; NPHS15" RELATED [OMIM:617609]
synonym: "NPHS15" RELATED [OMIM:617609]
xref: DOID:0080271 {source="MONDO:equivalentTo"}
xref: OMIM:617609 {source="MONDO:equivalentTo", source="DOID:0080271"}
xref: UMLS:CN388854 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="DOID:0080271", source="OMIM:617609"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539896
property_value: exactMatch DOID:0080271
property_value: exactMatch http://identifiers.org/omim/617609
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN388854

[Term]
id: MONDO:0033280
name: nephrotic syndrome 16
synonym: "nephrotic syndrome 16; NPHS16" RELATED [OMIM:617783]
synonym: "NPHS16" RELATED [OMIM:617783]
xref: DOID:0080272 {source="MONDO:equivalentTo"}
xref: OMIM:617783 {source="DOID:0080272", source="MONDO:equivalentTo"}
xref: UMLS:CN651336 {source="MONDO:equivalentTo"}
is_a: MONDO:0002350 {source="DOID:0080272", source="OMIM:617783"} ! familial nephrotic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540453
property_value: exactMatch DOID:0080272
property_value: exactMatch http://identifiers.org/omim/617783
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN651336

[Term]
id: MONDO:0033281
name: polycystic kidney disease 5
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DZIP1L polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PKD5" RELATED [OMIM:617610]
synonym: "polycystic kidney disease 5; PKD5" RELATED [OMIM:617610]
synonym: "polycystic kidney disease caused by mutation in DZIP1L" EXACT []
xref: DOID:0080273 {source="MONDO:equivalentTo"}
xref: OMIM:617610 {source="DOID:0080273", source="MONDO:equivalentTo"}
is_a: MONDO:0009889 ! autosomal recessive polycystic kidney disease
relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080273"} ! autosomal dominant polycystic kidney disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539903
property_value: exactMatch DOID:0080273
property_value: exactMatch http://identifiers.org/omim/617610

[Term]
id: MONDO:0033282
name: multiple mitochondrial dysfunctions syndrome 5
synonym: "MMDS5" RELATED [OMIM:617613]
synonym: "multiple mitochondrial dysfunctions syndrome 5; MMDS5" RELATED [OMIM:617613]
xref: DOID:0080274 {source="MONDO:equivalentTo"}
xref: OMIM:617613 {source="DOID:0080274", source="MONDO:equivalentTo"}
xref: UMLS:CN388855 {source="MONDO:equivalentTo"}
is_a: MONDO:0017338 {source="OMIM:617613"} ! fatal multiple mitochondrial dysfunctions syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539919
property_value: exactMatch DOID:0080274
property_value: exactMatch http://identifiers.org/omim/617613
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN388855

[Term]
id: MONDO:0033304
name: nonsyndromic deafness, Y-linked
xref: OMIMPS:400043 {source="MONDO:equivalentTo"}
is_a: MONDO:0000428 ! Y-linked disease
is_a: MONDO:0019497 ! nonsyndromic genetic deafness

[Term]
id: MONDO:0033308
name: Joubert syndrome 30
synonym: "JBTS30" RELATED [OMIM:617622]
synonym: "Joubert syndrome 30; JBTS30" RELATED [OMIM:617622]
xref: DOID:0080275 {source="MONDO:equivalentTo"}
xref: OMIM:617622 {source="DOID:0080275", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0080275", source="OMIM:617622"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539937
property_value: exactMatch DOID:0080275
property_value: exactMatch http://identifiers.org/omim/617622

[Term]
id: MONDO:0033309
name: Joubert syndrome 32
synonym: "JBTS32" RELATED [OMIM:617757]
synonym: "Joubert syndrome 32; JBTS32" RELATED [OMIM:617757]
xref: DOID:0080278 {source="MONDO:equivalentTo"}
xref: OMIM:617757 {source="MONDO:equivalentTo", source="DOID:0080278"}
xref: UMLS:CN596207 {source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0080278", source="OMIM:617757"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540342
property_value: exactMatch DOID:0080278
property_value: exactMatch http://identifiers.org/omim/617757
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN596207

[Term]
id: MONDO:0033310
name: Joubert syndrome 31
synonym: "JBTS31" RELATED [OMIM:617761]
synonym: "Joubert syndrome 31; JBTS31" RELATED [OMIM:617761]
xref: DOID:0080277 {source="MONDO:equivalentTo"}
xref: OMIM:617761 {source="DOID:0080277", source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0080277", source="OMIM:617761"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540355
property_value: exactMatch DOID:0080277
property_value: exactMatch http://identifiers.org/omim/617761

[Term]
id: MONDO:0033311
name: Joubert syndrome 33
synonym: "JBTS33" RELATED [OMIM:617767]
synonym: "Joubert syndrome 33; JBTS33" RELATED [OMIM:617767]
xref: DOID:0080279 {source="MONDO:equivalentTo"}
xref: OMIM:617767 {source="DOID:0080279", source="MONDO:equivalentTo"}
xref: UMLS:CN601375 {source="MONDO:equivalentTo"}
is_a: MONDO:0018772 {source="DOID:0080279", source="OMIM:617767"} ! Joubert syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540389
property_value: exactMatch DOID:0080279
property_value: exactMatch http://identifiers.org/omim/617767
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN601375

[Term]
id: MONDO:0033312
name: schizophrenia 19
synonym: "schizophrenia 19 with or without an affective disorder" RELATED [OMIM:617629]
synonym: "schizophrenia 19; SCZD19" RELATED [OMIM:617629]
synonym: "SCZD19" RELATED [OMIM:617629]
xref: DOID:0080281 {source="MONDO:equivalentTo"}
xref: OMIM:617629 {source="MONDO:equivalentTo", source="DOID:0080281"}
xref: UMLS:CN404275 {source="MONDO:equivalentTo"}
is_a: MONDO:0005090 {source="DOID:0080281"} ! schizophrenia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539944
property_value: exactMatch DOID:0080281
property_value: exactMatch http://identifiers.org/omim/617629
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN404275

[Term]
id: MONDO:0033352
name: neuropathy, congenital hypomelinating
synonym: "CHN" EXACT [MONDO:cjm]
xref: OMIMPS:605253 {source="MONDO:equivalentTo"}
is_a: MONDO:0020127 {source="MONDO:cjm"} ! genetic peripheral neuropathy

[Term]
id: MONDO:0033361
name: epileptic encephalopathy, early infantile, 52
synonym: "EIEE52" RELATED [OMIM:617350]
synonym: "epileptic encephalopathy, early infantile, 52; EIEE52" RELATED [OMIM:617350]
xref: OMIM:617350 {source="MONDO:equivalentTo"}
xref: UMLS:C4479236 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617350"}
is_a: MONDO:0016021 {source="OMIM:617350"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617350
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479236

[Term]
id: MONDO:0033362
name: epileptic encephalopathy, early infantile, 53
synonym: "EIEE53" RELATED [OMIM:617389]
synonym: "epileptic encephalopathy, early infantile, 53; EIEE53" RELATED [OMIM:617389]
xref: OMIM:617389 {source="MONDO:equivalentTo"}
xref: UMLS:C4479313 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617389"}
is_a: MONDO:0016021 {source="OMIM:617389"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617389
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479313

[Term]
id: MONDO:0033363
name: epileptic encephalopathy, early infantile, 54
synonym: "EIEE54" RELATED [OMIM:617391]
synonym: "epileptic encephalopathy, early infantile, 54; EIEE54" RELATED [OMIM:617391]
xref: OMIM:617391 {source="MONDO:equivalentTo"}
xref: UMLS:C4479319 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617391"}
is_a: MONDO:0016021 {source="OMIM:617391"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617391
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479319

[Term]
id: MONDO:0033364
name: epileptic encephalopathy, early infantile, 55
synonym: "EIEE55" RELATED [OMIM:617599]
synonym: "epileptic encephalopathy, early infantile, 55; EIEE55" RELATED [OMIM:617599]
synonym: "glycosylphosphatidylinositol biosynthesis defect 14" RELATED [OMIM:617599]
synonym: "infantile epileptic encephalopathy 55" RELATED [DOID:0080283]
xref: DOID:0080283 {source="MONDO:equivalentTo"}
xref: OMIM:617599 {source="DOID:0080283", source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DOID:0080283", source="OMIM:617599"} ! early infantile epileptic encephalopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539843
property_value: exactMatch DOID:0080283
property_value: exactMatch http://identifiers.org/omim/617599

[Term]
id: MONDO:0033365
name: epileptic encephalopathy, early infantile, 56
synonym: "EIEE56" RELATED [OMIM:617665]
synonym: "epileptic encephalopathy, early infantile, 56; EIEE56" RELATED [OMIM:617665]
synonym: "infantile epileptic encephalopathy 56" RELATED [DOID:0080282]
xref: DOID:0080282 {source="MONDO:equivalentTo"}
xref: OMIM:617665 {source="MONDO:equivalentTo", source="DOID:0080282"}
xref: UMLS:CN477042 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DOID:0080282", source="OMIM:617665"} ! early infantile epileptic encephalopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540034
property_value: exactMatch DOID:0080282
property_value: exactMatch http://identifiers.org/omim/617665
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN477042

[Term]
id: MONDO:0033366
name: epileptic encephalopathy, early infantile, 57
synonym: "EIEE57" RELATED [OMIM:617771]
synonym: "epileptic encephalopathy, early infantile, 57; EIEE57" RELATED [OMIM:617771]
synonym: "infantile epileptic encephalopathy 57" RELATED [DOID:0080284]
xref: DOID:0080284 {source="MONDO:equivalentTo"}
xref: OMIM:617771 {source="DOID:0080284", source="MONDO:equivalentTo"}
xref: UMLS:CN633295 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DOID:0080284", source="OMIM:617771"} ! early infantile epileptic encephalopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540411
property_value: exactMatch DOID:0080284
property_value: exactMatch http://identifiers.org/omim/617771
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN633295

[Term]
id: MONDO:0033367
name: epileptic encephalopathy, early infantile, 58
synonym: "EIEE58" RELATED [OMIM:617830]
synonym: "epileptic encephalopathy, early infantile, 58; EIEE58" RELATED [OMIM:617830]
synonym: "infantile epileptic encephalopathy 58" RELATED [DOID:0080285]
xref: DOID:0080285 {source="MONDO:equivalentTo"}
xref: OMIM:617830 {source="DOID:0080285", source="MONDO:equivalentTo"}
xref: UMLS:CN757795 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DOID:0080285", source="OMIM:617830"} ! early infantile epileptic encephalopathy
property_value: exactMatch DOID:0080285
property_value: exactMatch http://identifiers.org/omim/617830
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757795

[Term]
id: MONDO:0033368
name: epileptic encephalopathy, early infantile, 59
synonym: "EIEE59" RELATED [OMIM:617904]
synonym: "epileptic encephalopathy, early infantile, 59; EIEE59" RELATED [OMIM:617904]
synonym: "infantile epileptic encephalopathy 59" RELATED [DOID:0080291]
xref: DOID:0080291 {source="MONDO:equivalentTo"}
xref: OMIM:617904 {source="MONDO:equivalentTo", source="DOID:0080291"}
xref: UMLS:CN870853 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="DOID:0080291", source="OMIM:617904"} ! early infantile epileptic encephalopathy
property_value: exactMatch DOID:0080291
property_value: exactMatch http://identifiers.org/omim/617904
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN870853

[Term]
id: MONDO:0033369
name: epileptic encephalopathy, early infantile, 60
synonym: "EIEE60" RELATED [OMIM:617929]
synonym: "epileptic encephalopathy, early infantile, 60; EIEE60" RELATED [OMIM:617929]
xref: OMIM:617929 {source="MONDO:equivalentTo"}
xref: UMLS:CN244549 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:617929"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617929
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244549

[Term]
id: MONDO:0033370
name: epileptic encephalopathy, early infantile, 61
synonym: "EIEE61" RELATED [OMIM:617933]
synonym: "epileptic encephalopathy, early infantile, 61; EIEE61" RELATED [OMIM:617933]
xref: OMIM:617933 {source="MONDO:equivalentTo"}
xref: UMLS:CN244550 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:617933"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617933
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244550

[Term]
id: MONDO:0033371
name: epileptic encephalopathy, early infantile, 62
synonym: "EIEE62" RELATED [OMIM:617938]
synonym: "epileptic encephalopathy, early infantile, 62; EIEE62" RELATED [OMIM:617938]
xref: OMIM:617938 {source="MONDO:equivalentTo"}
xref: UMLS:CN244551 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:617938"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617938
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244551

[Term]
id: MONDO:0033372
name: epileptic encephalopathy, early infantile, 63
synonym: "EIEE63" RELATED [OMIM:617976]
synonym: "epileptic encephalopathy, early infantile, 63; EIEE63" RELATED [OMIM:617976]
xref: OMIM:617976 {source="MONDO:equivalentTo"}
xref: UMLS:CN244926 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:617976"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/617976
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244926

[Term]
id: MONDO:0033373
name: epileptic encephalopathy, early infantile, 64
synonym: "EIEE64" RELATED [OMIM:618004]
synonym: "epileptic encephalopathy, early infantile, 64; EIEE64" RELATED [OMIM:618004]
xref: OMIM:618004 {source="MONDO:equivalentTo"}
xref: UMLS:CN248512 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618004"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248512

[Term]
id: MONDO:0033374
name: epileptic encephalopathy, early infantile, 65
synonym: "EIEE65" RELATED [OMIM:618008]
synonym: "epileptic encephalopathy, early infantile, 65; EIEE65" RELATED [OMIM:618008]
xref: OMIM:618008 {source="MONDO:equivalentTo"}
xref: UMLS:CN248516 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618008"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248516

[Term]
id: MONDO:0033375
name: orofaciodigital syndrome 17
synonym: "OFD17" RELATED [OMIM:617926]
synonym: "Ofds 17" RELATED [OMIM:617926]
synonym: "oral-Facial-digital syndrome, type 17" RELATED [OMIM:617926]
synonym: "orofaciodigital syndrome XVII" RELATED [DOID:0080289]
synonym: "orofaciodigital syndrome XVII; OFD17" RELATED [OMIM:617926]
xref: DOID:0080289 {source="MONDO:equivalentTo"}
xref: OMIM:617926 {source="MONDO:equivalentTo", source="DOID:0080289"}
xref: UMLS:CN902091 {source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="DOID:0080289"} ! orofaciodigital syndrome
property_value: exactMatch DOID:0080289
property_value: exactMatch http://identifiers.org/omim/617926
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN902091

[Term]
id: MONDO:0033479
name: spinocerebellar ataxia 44
synonym: "SCA44" RELATED [OMIM:617691]
synonym: "spinocerebellar ataxia 44; SCA44" RELATED [OMIM:617691]
xref: DOID:0080286 {source="MONDO:equivalentTo"}
xref: OMIM:617691 {source="DOID:0080286", source="MONDO:equivalentTo"}
xref: UMLS:CN492437 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0080286", source="MONDO:Redundant", source="OMIM:617691"} ! autosomal dominant cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4521563
property_value: exactMatch DOID:0080286
property_value: exactMatch http://identifiers.org/omim/617691
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN492437

[Term]
id: MONDO:0033480
name: spinocerebellar ataxia 45
synonym: "SCA45" RELATED [OMIM:617769]
synonym: "spinocerebellar ataxia 45; SCA45" RELATED [OMIM:617769]
xref: DOID:0080287 {source="MONDO:equivalentTo"}
xref: OMIM:617769 {source="DOID:0080287", source="MONDO:equivalentTo"}
xref: UMLS:CN623017 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0080287", source="MONDO:Redundant", source="OMIM:617769"} ! autosomal dominant cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540400
property_value: exactMatch DOID:0080287
property_value: exactMatch http://identifiers.org/omim/617769
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN623017

[Term]
id: MONDO:0033481
name: spinocerebellar ataxia 46
synonym: "SCA46" RELATED [OMIM:617770]
synonym: "spinocerebellar ataxia 46; SCA46" RELATED [OMIM:617770]
synonym: "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:617770]
xref: DOID:0080288 {source="MONDO:equivalentTo"}
xref: OMIM:617770 {source="DOID:0080288", source="MONDO:equivalentTo"}
xref: UMLS:CN623018 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0080288", source="MONDO:Redundant", source="OMIM:617770"} ! autosomal dominant cerebellar ataxia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540404
property_value: exactMatch DOID:0080288
property_value: exactMatch http://identifiers.org/omim/617770
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN623018

[Term]
id: MONDO:0033482
name: spinocerebellar ataxia 47
synonym: "SCA47" RELATED [OMIM:617931]
synonym: "spinocerebellar ataxia 47; SCA47" RELATED [OMIM:617931]
xref: OMIM:617931 {source="MONDO:equivalentTo"}
xref: UMLS:CN244564 {source="MONDO:equivalentTo"}
is_a: MONDO:0000437 {source="OMIM:617931"} ! cerebellar ataxia
property_value: exactMatch http://identifiers.org/omim/617931
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244564

[Term]
id: MONDO:0033483
name: erythrocytosis, familial, 5
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." [MONDO:design_pattern]
synonym: "ECYT5" RELATED [OMIM:617907]
synonym: "EPO familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 5; ECYT5" RELATED [OMIM:617907]
synonym: "familial erythrocytosis 5" RELATED [DOID:0080290]
synonym: "familial polycythemia caused by mutation in EPO" EXACT [MONDO:design_pattern]
xref: DOID:0080290 {source="MONDO:equivalentTo"}
xref: OMIM:617907 {source="MONDO:equivalentTo", source="DOID:0080290"}
xref: UMLS:CN873435 {source="MONDO:equivalentTo"}
is_a: MONDO:0001115 {source="DOID:0080290", source="MONDO:Redundant", source="MONDOLEX:0033483", source="OMIM:617907"} ! familial polycythemia
property_value: exactMatch DOID:0080290
property_value: exactMatch http://identifiers.org/omim/617907
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN873435

[Term]
id: MONDO:0033485
name: short-rib thoracic dysplasia 19 with or without polydactyly
synonym: "short-rib thoracic dysplasia 19 with or without polydactyly; SRTD19" RELATED [OMIM:617895]
synonym: "SRTD19" RELATED [OMIM:617895]
xref: DOID:0080295 {source="MONDO:equivalentTo"}
xref: OMIM:617895 {source="DOID:0080295", source="MONDO:equivalentTo"}
xref: UMLS:CN842245 {source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0080295", source="OMIM:617895"} ! Jeune syndrome
property_value: exactMatch DOID:0080295
property_value: exactMatch http://identifiers.org/omim/617895
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN842245

[Term]
id: MONDO:0033486
name: leukodystrophy, hypomyelinating, 14
synonym: "HLD14" RELATED [OMIM:617899]
synonym: "hypomyelinating leukodystrophy 14" RELATED [DOID:0080296]
synonym: "leukodystrophy, hypomyelinating, 14; HLD14" RELATED [OMIM:617899]
xref: DOID:0080296 {source="MONDO:equivalentTo"}
xref: OMIM:617899 {source="DOID:0080296", source="MONDO:equivalentTo"}
xref: UMLS:CN845004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", source="OMIM:617899"} ! leukodystrophy
property_value: exactMatch DOID:0080296
property_value: exactMatch http://identifiers.org/omim/617899
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN845004

[Term]
id: MONDO:0033492
name: Coffin-Siris syndrome 6
synonym: "COFFIN-SIRIS syndrome 6; CSS6" RELATED [OMIM:617808]
synonym: "CSS6" RELATED [OMIM:617808]
xref: DOID:0080297 {source="MONDO:equivalentTo"}
xref: OMIM:617808 {source="DOID:0080297", source="MONDO:equivalentTo"}
xref: UMLS:CN696018 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080297", source="OMIM:617808"} ! autosomal dominant non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540499
property_value: exactMatch DOID:0080297
property_value: exactMatch http://identifiers.org/omim/617808
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN696018

[Term]
id: MONDO:0033493
name: fibromatosis, gingival, 5
synonym: "fibromatosis, gingival, 5; GINGF5" RELATED [OMIM:617626]
synonym: "fibromatosis, gingival, hereditary, 5" RELATED [OMIM:617626]
synonym: "GGF5" RELATED [OMIM:617626]
synonym: "GINGF5" RELATED [OMIM:617626]
synonym: "gingival fibromatosis 5" RELATED [DOID:0080280]
xref: DOID:0080280 {source="MONDO:equivalentTo"}
xref: OMIM:617626 {source="MONDO:equivalentTo", source="DOID:0080280"}
is_a: MONDO:0016070 {source="DOID:0080280", source="OMIM:617626"} ! hereditary gingival fibromatosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539942
property_value: exactMatch DOID:0080280
property_value: exactMatch http://identifiers.org/omim/617626

[Term]
id: MONDO:0033672
name: duane anomaly-myopathy-scoliosis syndrome
def: "Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." [Orphanet:50817]
subset: ordo_disease
xref: Orphanet:50817 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019711 {source="Orphanet:50817"} ! dysostosis with predominant vertebral and costal involvement
is_a: MONDO:0020253 {source="Orphanet:50817"} ! syndrome with a symptomatic strabismus
property_value: exactMatch Orphanet:50817

[Term]
id: MONDO:0033682
name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
subset: ordo_disease
xref: Orphanet:508533 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:508533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015708 {source="Orphanet:508533"} ! immuno-osseous dysplasia
is_a: MONDO:0019694 {source="Orphanet:508533"} ! spondylodysplastic dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:508533

[Term]
id: MONDO:0033683
name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
subset: ordo_disease
xref: Orphanet:508542 {source="MONDO:equivalentTo"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0015159 {source="Orphanet:508542"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015708 {source="Orphanet:508542"} ! immuno-osseous dysplasia
is_a: MONDO:0017432 {source="Orphanet:508542"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0019060 ! bone neoplasm
is_a: MONDO:0019453 {source="Orphanet:508542"} ! refractory cytopenia with multilineage dysplasia
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:508542

[Term]
id: MONDO:0033717
name: congenital cerebellar ataxia due to rnu12 mutation
subset: ordo_disease
xref: Orphanet:512260 {source="MONDO:equivalentTo"}
is_a: MONDO:0020043 {source="Orphanet:512260"} ! autosomal recessive congenital cerebellar ataxia
property_value: exactMatch Orphanet:512260

[Term]
id: MONDO:0033809
name: isolated blepharochalasis
subset: ordo_disease
xref: Orphanet:519390 {source="MONDO:equivalentTo"}
is_a: MONDO:0020158 {source="Orphanet:519390"} ! eyelids malposition disorder
property_value: exactMatch Orphanet:519390

[Term]
id: MONDO:0033810
name: isolated iridoschisis
subset: ordo_disease
xref: Orphanet:519392 {source="MONDO:equivalentTo"}
is_a: MONDO:0019503 {source="Orphanet:519392"} ! anterior segment dysgenesis
property_value: exactMatch Orphanet:519392

[Term]
id: MONDO:0033816
name: thygeson superficial punctate keratopathy
def: "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease." [https://eyewiki.aao.org/Thygeson%C2%B4s_superficial_punctate_keratitis, MONDO:cjm]
subset: ordo_disease
xref: Orphanet:519406 {source="MONDO:equivalentTo"}
is_a: MONDO:0000942 ! corneal disease
property_value: exactMatch Orphanet:519406

[Term]
id: MONDO:0033818
name: terrien marginal degeneration
def: "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" [https://eyewiki.aao.org/Terrien%27s_Marginal_Degeneration, MONDO:cjm]
subset: ordo_disease
xref: Orphanet:519410 {source="MONDO:equivalentTo"}
is_a: MONDO:0000942 ! corneal disease
property_value: exactMatch Orphanet:519410

[Term]
id: MONDO:0033821
name: fungal keratitis
subset: ordo_disease
xref: Orphanet:519930 {source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
is_a: MONDO:0020944 ! fungal infection of eye
is_a: MONDO:0023865 ! corneal infection
property_value: exactMatch Orphanet:519930

[Term]
id: MONDO:0033838
name: radiation-induced plexopathy
subset: ordo_disease
xref: Orphanet:521123 {source="MONDO:equivalentTo"}
is_a: MONDO:0015923 {source="Orphanet:521123"} ! acquired peripheral neuropathy
is_a: MONDO:0024432 ! nerve plexus disease
is_a: MONDO:0043459 {source="Orphanet:521123"} ! radiation-induced disorder
property_value: exactMatch Orphanet:521123

[Term]
id: MONDO:0033839
name: osteoradionecrosis of the mandible
subset: ordo_disease
xref: Orphanet:521127 {source="MONDO:equivalentTo"}
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0023369 ! disease of facial skeleton
is_a: MONDO:0043735 ! osteoradionecrosis
property_value: exactMatch Orphanet:521127

[Term]
id: MONDO:0033850
name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
subset: ordo_disease
xref: Orphanet:521411 {source="MONDO:equivalentTo"}
is_a: MONDO:0017762 {source="Orphanet:521411"} ! disorder of copper metabolism
is_a: MONDO:0019601 {source="Orphanet:521411"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch Orphanet:521411

[Term]
id: MONDO:0033853
name: congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
subset: ordo_disease
xref: Orphanet:521432 {source="MONDO:equivalentTo"}
is_a: MONDO:0015509 {source="Orphanet:521432"} ! genetic biliary tract disease
is_a: MONDO:0020225 {source="Orphanet:521432"} ! syndromic cataract
property_value: exactMatch Orphanet:521432

[Term]
id: MONDO:0033856
name: lama5-related multisystemic syndrome
subset: ordo_disease
xref: Orphanet:521450 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015938 {source="Orphanet:521450"} ! systemic disease
is_a: MONDO:0017133 {source="Orphanet:521450"} ! genetic systemic or rheumatologic disease
property_value: exactMatch Orphanet:521450

[Term]
id: MONDO:0033862
name: primary autoimmune enteropathy
subset: ordo_disease
xref: Orphanet:522037 {source="MONDO:equivalentTo"}
is_a: MONDO:0019126 {source="Orphanet:522037"} ! intractable diarrhea of infancy
is_a: MONDO:0019787 {source="Orphanet:522037"} ! autoimmune enteropathy
property_value: exactMatch Orphanet:522037

[Term]
id: MONDO:0033864
name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
subset: ordo_disease
xref: OMIM:618218 {source="MONDO:equivalentTo", source="Orphanet:522077"}
xref: Orphanet:522077 {source="MONDO:equivalentTo"}
is_a: MONDO:0020253 {source="Orphanet:522077"} ! syndrome with a symptomatic strabismus
is_a: MONDO:0044636 {source="Orphanet:522077"} ! rare hyperkinetic movement disorder
property_value: exactMatch http://identifiers.org/omim/618218
property_value: exactMatch Orphanet:522077

[Term]
id: MONDO:0033925
name: pediatric-onset Graves disease
subset: ordo_disease
xref: Orphanet:525731 {source="MONDO:equivalentTo"}
is_a: MONDO:0005364 ! Graves disease
property_value: exactMatch Orphanet:525731

[Term]
id: MONDO:0033926
name: prepubertal anorexia nervosa
subset: ordo_disease
xref: Orphanet:525738 {source="MONDO:equivalentTo"}
is_a: MONDO:0005351 ! anorexia nervosa
is_a: MONDO:0020016 {source="Orphanet:525738"} ! rare neurologic disease with psychiatric involvement
relationship: excluded_subClassOf MONDO:0015889 {source="Orphanet:525738"} ! rare hypothalamic or pituitary disease
property_value: exactMatch Orphanet:525738

[Term]
id: MONDO:0033939
name: hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
subset: ordo_disease
xref: Orphanet:528105 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015962 {source="Orphanet:528105"} ! inherited renal tubular disease
is_a: MONDO:0019744 {source="Orphanet:528105"} ! rare renal tubular disease
property_value: exactMatch Orphanet:528105

[Term]
id: MONDO:0033946
name: hereditary angioedema with c1Inh deficiency
def: "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type ii hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." [MESH:D056829]
subset: ordo_disease
synonym: "angioedema, hereditary, type 1" RELATED [OMIM:106100]
synonym: "angioedema, hereditary, type 1/2" EXACT [MONDO:0007117]
synonym: "angioedema, hereditary, type 2" RELATED [OMIM:106100]
synonym: "angioedema, hereditary, type I" RELATED [MONDO:Lexical, OMIM:106100]
synonym: "angioedema, hereditary, type I; HAE1" RELATED [OMIM:106100]
synonym: "angioneurotic edema, hereditary" RELATED [OMIM:106100]
synonym: "C1 esterase inhibitor, deficiency of" RELATED [OMIM:106100]
synonym: "HAE1" RELATED [MONDO:Lexical, OMIM:106100]
xref: OMIM:106100 {source="MONDO:equivalentTo"}
xref: Orphanet:528623 {source="MONDO:equivalentTo"}
is_a: MONDO:0019623 {source="DC-OMIM:106100", source="MONDOLEX:0007117", source="Orphanet:528623"} ! hereditary angioedema
is_a: MONDO:0027749 ! serpinopathy
intersection_of: MONDO:0019623 ! hereditary angioedema
intersection_of: disease_has_feature MONDO:0027751 ! serpinopathy with loss of serpin function
disjoint_from: MONDO:0033947 ! hereditary angioedema with normal c1Inh
relationship: disease_has_feature MONDO:0027751 ! serpinopathy with loss of serpin function
property_value: exactMatch http://identifiers.org/omim/106100
property_value: exactMatch Orphanet:528623

[Term]
id: MONDO:0033947
name: hereditary angioedema with normal c1Inh
subset: ordo_disease
xref: Orphanet:528647 {source="MONDO:equivalentTo"}
is_a: MONDO:0019623 {source="Orphanet:528647"} ! hereditary angioedema
property_value: exactMatch Orphanet:528647

[Term]
id: MONDO:0033948
name: acquired angioedema with c1inh deficiency
subset: ordo_disease
xref: Orphanet:528663 {source="MONDO:equivalentTo"}
is_a: MONDO:0019624 {source="Orphanet:528663"} ! acquired angioedema
intersection_of: MONDO:0019624 ! acquired angioedema
intersection_of: disease_has_feature MONDO:0027751 ! serpinopathy with loss of serpin function
relationship: disease_has_feature MONDO:0027751 ! serpinopathy with loss of serpin function
property_value: exactMatch Orphanet:528663

[Term]
id: MONDO:0033954
name: monoclonal mast cell activation syndrome
subset: ordo_disease
xref: Orphanet:529468 {source="MONDO:equivalentTo"}
is_a: MONDO:0019044 {source="Orphanet:529468"} ! tumor of hematopoietic and lymphoid tissues
property_value: exactMatch Orphanet:529468

[Term]
id: MONDO:0033967
name: immune dysregulation with inflammatory bowel disease
subset: ordo_group_of_disorders
xref: Orphanet:529974 {source="MONDO:equivalentTo"}
is_a: MONDO:0015710 {source="Orphanet:529974"} ! immune dysregulation disease with immunodeficiency
intersection_of: MONDO:0015710 ! immune dysregulation disease with immunodeficiency
intersection_of: disease_has_feature MONDO:0005265 ! inflammatory bowel disease
relationship: disease_has_feature MONDO:0005265 ! inflammatory bowel disease
property_value: exactMatch Orphanet:529974

[Term]
id: MONDO:0033968
name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
subset: ordo_disease
xref: Orphanet:529977 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017133 {source="Orphanet:529977"} ! genetic systemic or rheumatologic disease
is_a: MONDO:0033967 ! immune dysregulation with inflammatory bowel disease
property_value: exactMatch Orphanet:529977

[Term]
id: MONDO:0033969
name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome
subset: ordo_disease
xref: Orphanet:529980 {source="MONDO:equivalentTo"}
is_a: MONDO:0033967 ! immune dysregulation with inflammatory bowel disease
property_value: exactMatch Orphanet:529980

[Term]
id: MONDO:0033980
name: rela fusion-positive ependymoma
subset: ordo_disease
xref: Orphanet:530792 {source="MONDO:equivalentTo"}
is_a: MONDO:0003266 {source="Orphanet:530792"} ! ependymal tumor
property_value: exactMatch Orphanet:530792

[Term]
id: MONDO:0033981
name: obsolete krt1-related diffuse nonepidermolytic keratoderma
is_obsolete: true
replaced_by: MONDO:0010962

[Term]
id: MONDO:0034021
name: spondylodysplastic ehlers-danlos syndrome
subset: ordo_disease
xref: Orphanet:536471 {source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="Orphanet:536471"} ! Ehlers-Danlos syndrome
property_value: exactMatch Orphanet:536471

[Term]
id: MONDO:0034022
name: myopathic ehlers-danlos syndrome
subset: ordo_disease
xref: Orphanet:536516 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019950 {source="Orphanet:536516"} ! congenital muscular dystrophy
is_a: MONDO:0020066 {source="Orphanet:536516"} ! Ehlers-Danlos syndrome
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch Orphanet:536516

[Term]
id: MONDO:0034024
name: kyphoscoliotic ehlers-danlos syndrome
def: "A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." [Orphanet:536545]
subset: ordo_disease
xref: Orphanet:536545 {source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="Orphanet:536545"} ! Ehlers-Danlos syndrome
property_value: exactMatch Orphanet:536545

[Term]
id: MONDO:0034041
name: congenital axonal neuropathy with encephalopathy
def: "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." [Orphanet:538101]
subset: ordo_disease
xref: Orphanet:538101 {source="MONDO:equivalentTo"}
is_a: MONDO:0019601 {source="Orphanet:538101"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch Orphanet:538101

[Term]
id: MONDO:0034054
name: severe combined immunodeficiency due to CD70 deficiency
subset: ordo_disease
xref: OMIM:618261 {source="Orphanet:538958", source="MONDO:equivalentTo"}
xref: Orphanet:538958 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 ! severe combined immunodeficiency (disease)
is_a: MONDO:0016537 {source="Orphanet:538958"} ! lymphoproliferative syndrome
property_value: exactMatch http://identifiers.org/omim/618261
property_value: exactMatch Orphanet:538958

[Term]
id: MONDO:0034082
name: obsolete necrobiosis lipoidica
is_obsolete: true
replaced_by: MONDO:0006583

[Term]
id: MONDO:0034092
name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
subset: ordo_disease
xref: Orphanet:543470 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016133 {source="Orphanet:543470"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0017718 {source="Orphanet:543470"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
is_a: MONDO:0018609 {source="Orphanet:543470"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019058 {source="Orphanet:543470"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:543470"} ! syndromic genetic deafness
property_value: exactMatch Orphanet:543470

[Term]
id: MONDO:0034099
name: syngap1-related developmental and epileptic encephalopathy
subset: ordo_disease
xref: Orphanet:544254 {source="MONDO:equivalentTo"}
is_a: MONDO:0020071 {source="Orphanet:544254"} ! infantile epilepsy syndrome
property_value: exactMatch Orphanet:544254

[Term]
id: MONDO:0034103
name: infection-related hemolytic uremic syndrome
subset: ordo_disease
xref: Orphanet:544482 {source="MONDO:equivalentTo"}
is_a: MONDO:0001549 ! hemolytic-uremic syndrome
is_a: MONDO:0021669 ! post-infectious disorder
intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: exactMatch Orphanet:544482

[Term]
id: MONDO:0034104
name: global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
subset: ordo_disease
xref: Orphanet:544488 {source="MONDO:equivalentTo"}
is_a: MONDO:0017356 {source="Orphanet:544488"} ! inborn disorder of ornithine metabolism
is_a: MONDO:0019058 {source="Orphanet:544488"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch Orphanet:544488

[Term]
id: MONDO:0034106
name: rnf13-related severe early-onset epileptic encephalopathy
subset: ordo_disease
xref: OMIM:618379 {source="Orphanet:544503", source="MONDO:equivalentTo"}
xref: Orphanet:544503 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:544503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016021 {source="MONDO:cjm"} ! early infantile epileptic encephalopathy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0019589 {source="Orphanet:544503"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/618379
property_value: exactMatch Orphanet:544503

[Term]
id: MONDO:0034109
name: congenital myopathy with reduced type 2 muscle fibers
subset: ordo_disease
xref: OMIM:618414 {source="Orphanet:544602", source="MONDO:equivalentTo"}
xref: Orphanet:544602 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019952 {source="Orphanet:544602"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
property_value: exactMatch http://identifiers.org/omim/618414
property_value: exactMatch Orphanet:544602

[Term]
id: MONDO:0034110
name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
subset: ordo_disease
xref: Orphanet:544628 {source="MONDO:equivalentTo"}
is_a: MONDO:0019744 {source="Orphanet:544628"} ! rare renal tubular disease
property_value: exactMatch Orphanet:544628

[Term]
id: MONDO:0034121
name: NAD(P)HX dehydratase deficiency
subset: ordo_disease
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2" RELATED [OMIM:618321]
xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"}
xref: Orphanet:555402 {source="MONDO:equivalentTo", source="OMIM:618321"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0014960 {source="OMIM:618321"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
is_a: MONDO:0019602 {source="Orphanet:555402"} ! other inborn metabolic disease
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193026
property_value: exactMatch http://identifiers.org/omim/618321
property_value: exactMatch Orphanet:555402

[Term]
id: MONDO:0034122
name: obsolete NAD(P)HX epimerase deficiency
is_obsolete: true
replaced_by: MONDO:0014960

[Term]
id: MONDO:0034127
name: IgA pemphigus
subset: ordo_disease
xref: Orphanet:555905 {source="MONDO:equivalentTo"}
is_a: MONDO:0019337 {source="Orphanet:555905"} ! autoimmune bullous skin disease
property_value: exactMatch Orphanet:555905

[Term]
id: MONDO:0034142
name: pancreatic agenesis-holoprosencephaly syndrome
subset: ordo_disease
xref: Orphanet:556955 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:556955"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015214 {source="Orphanet:556955"} ! syndromic visceral malformation
is_a: MONDO:0017120 {source="Orphanet:556955"} ! other syndrome with a central nervous system malformation as major feature
property_value: exactMatch Orphanet:556955

[Term]
id: MONDO:0034143
name: early-onset calcifying leukoencephalopathy-skeletal dysplasia
subset: ordo_disease
xref: Orphanet:556985 {source="MONDO:equivalentTo"}
is_a: MONDO:0017198 {source="Orphanet:556985"} ! osteopetrosis (disease)
is_a: MONDO:0019046 {source="Orphanet:556985"} ! leukodystrophy
property_value: exactMatch Orphanet:556985

[Term]
id: MONDO:0034145
name: oculocerebrodental syndrome
subset: ordo_disease
synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440]
synonym: "OCSKD" RELATED [OMIM:618440]
synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440]
synonym: "oculoskeletodental syndrome; OCSKD" RELATED [OMIM:618440]
xref: OMIM:618440 {source="MONDO:equivalentTo"}
xref: Orphanet:557003 {source="MONDO:equivalentTo", source="OMIM:618440"}
is_a: MONDO:0005308 {source="Orphanet:557003"} ! ciliopathy
is_a: MONDO:0015159 {source="Orphanet:557003"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019183 {source="Orphanet:557003"} ! inherited odontologic disease
is_a: MONDO:0019589 {source="Orphanet:557003"} ! syndromic genetic deafness
is_a: MONDO:0019705 {source="Orphanet:557003"} ! primary bone dysplasia with defective bone mineralization
is_a: MONDO:0020014 {source="Orphanet:557003"} ! rare disease with odontological manifestation
is_a: MONDO:0020225 {source="Orphanet:557003"} ! syndromic cataract
is_a: MONDO:0023603 ! hereditary connective tissue disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C5193101
property_value: exactMatch http://identifiers.org/omim/618440
property_value: exactMatch Orphanet:557003

[Term]
id: MONDO:0034146
name: spastic ataxia-dysarthria due to glutaminase deficiency
subset: ordo_disease
xref: Orphanet:557056 {source="MONDO:equivalentTo"}
is_a: MONDO:0017352 {source="Orphanet:557056"} ! disorder of glutamine metabolism
is_a: MONDO:0017847 {source="Orphanet:557056"} ! autosomal recessive spastic ataxia
is_a: MONDO:0019058 {source="Orphanet:557056"} ! neurometabolic disease
is_a: MONDO:0020142 ! metabolic disease with dementia
property_value: exactMatch Orphanet:557056

[Term]
id: MONDO:0034147
name: neonatal epileptic encephalopathy due to glutaminase deficiency
subset: ordo_disease
xref: Orphanet:557064 {source="MONDO:equivalentTo"}
is_a: MONDO:0016399 {source="Orphanet:557064"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0017352 {source="Orphanet:557064"} ! disorder of glutamine metabolism
is_a: MONDO:0019058 {source="Orphanet:557064"} ! neurometabolic disease
property_value: exactMatch Orphanet:557064

[Term]
id: MONDO:0034150
name: idiopathic gastroparesis
subset: ordo_disease
xref: Orphanet:558411 {source="MONDO:equivalentTo"}
is_a: MONDO:0015111 {source="Orphanet:558411"} ! gastroesophageal disease
property_value: exactMatch Orphanet:558411

[Term]
id: MONDO:0034186
name: autosomal recessive extra-oral halitosis
subset: ordo_disease
xref: Orphanet:562538 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019222 {source="Orphanet:562538"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
property_value: exactMatch Orphanet:562538

[Term]
id: MONDO:0034189
name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
subset: ordo_disease
xref: Orphanet:562639 {source="MONDO:equivalentTo"}
is_a: MONDO:0004789 {source="MONDO:cjm"} ! cholangitis
is_a: MONDO:0016264 {source="MONDO:cjm"} ! autoimmune hepatitis
property_value: exactMatch Orphanet:562639

[Term]
id: MONDO:0034204
name: syndromic congenital sodium diarrhea
subset: ordo_disease
xref: Orphanet:563708 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015170 {source="MONDO:cjm"} ! congenital sodium diarrhea
is_a: MONDO:0019126 {source="Orphanet:563708"} ! intractable diarrhea of infancy
intersection_of: MONDO:0015170 ! congenital sodium diarrhea
intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
property_value: exactMatch Orphanet:563708

[Term]
id: MONDO:0034212
name: methotrexate toxicity
subset: ordo_disease
xref: Orphanet:565782 {source="MONDO:equivalentTo"}
is_a: MONDO:0017633 {source="Orphanet:565782"} ! rare intoxication due to medical products
property_value: exactMatch Orphanet:565782

[Term]
id: MONDO:0034216
name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
subset: ordo_disease
xref: Orphanet:566231 {source="MONDO:equivalentTo"}
is_a: MONDO:0001328 ! thyroid hormone resistance syndrome
is_a: MONDO:0019856 {source="Orphanet:566231"} ! primary congenital hypothyroidism without thyroid developmental anomaly
property_value: exactMatch Orphanet:566231

[Term]
id: MONDO:0034217
name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
subset: ordo_disease
xref: ICD10:E07.8 {source="MONDO:subClassOf", source="ORDO:Attributed", source="Orphanet:566243"}
xref: Orphanet:566243 {source="MONDO:equivalentTo"}
is_a: MONDO:0001328 ! thyroid hormone resistance syndrome
property_value: exactMatch Orphanet:566243

[Term]
id: MONDO:0035892
name: Mills syndrome
def: "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." [Orphanet:94091]
subset: ordo_disease
xref: Orphanet:94091 {source="MONDO:equivalentTo"}
is_a: MONDO:0020129 {source="Orphanet:94091"} ! acquired motor neuron disease
property_value: exactMatch Orphanet:94091

[Term]
id: MONDO:0036482
name: retinitis pigmentosa 81
synonym: "retinitis pigmentosa 81; RP81" RELATED [OMIM:617871]
synonym: "RP81" RELATED [OMIM:617871]
xref: DOID:0080292 {source="MONDO:equivalentTo"}
xref: OMIM:617871 {source="MONDO:equivalentTo", source="DOID:0080292"}
xref: UMLS:CN802781 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="DOID:0080292", source="OMIM:617871"} ! retinitis pigmentosa
property_value: exactMatch DOID:0080292
property_value: exactMatch http://identifiers.org/omim/617871
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN802781

[Term]
id: MONDO:0036483
name: short-rib thoracic dysplasia 18 with polydactyly
synonym: "short-rib thoracic dysplasia 18 with polydactyly; SRTD18" RELATED [OMIM:617866]
synonym: "SRTD18" RELATED [OMIM:617866]
xref: DOID:0080293 {source="MONDO:equivalentTo"}
xref: OMIM:617866 {source="MONDO:equivalentTo", source="DOID:0080293"}
xref: UMLS:CN795020 {source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="DOID:0080293", source="OMIM:617866"} ! Jeune syndrome
property_value: exactMatch DOID:0080293
property_value: exactMatch http://identifiers.org/omim/617866
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN795020

[Term]
id: MONDO:0036484
name: Charcot-Marie-Tooth disease, dominant intermediate G
synonym: "Charcot-Marie-Tooth disease dominant intermediate G" RELATED [DOID:0080294]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate G; CMTDIG" RELATED [OMIM:617882]
synonym: "CMTDIG" RELATED [OMIM:617882]
xref: DOID:0080294 {source="MONDO:equivalentTo"}
xref: OMIM:617882 {source="DOID:0080294", source="MONDO:equivalentTo"}
xref: UMLS:CN847583 {source="MONDO:equivalentTo"}
is_a: MONDO:0018778 {source="DOID:0080294", source="MONDOLEX:0036484"} ! intermediate Charcot-Marie-Tooth disease
property_value: exactMatch DOID:0080294
property_value: exactMatch http://identifiers.org/omim/617882
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN847583

[Term]
id: MONDO:0036491
name: obsolete rare childhood malignant neoplasm
def: "An infrequent malignant neoplasm that occurs during childhood." [NCIT:C114451]
subset: obsoletion_candidate
synonym: "rare childhood cancer" EXACT []
synonym: "rare childhood malignant neoplasm" EXACT [MONDO:patterns/rare, NCIT:C114451]
synonym: "rare malignant childhood neoplasm" EXACT [NCIT:C114451]
synonym: "Rare malignant neoplasm" EXACT [NCIT:C114451]
xref: NCIT:C114451 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C3828369 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="NCIT:C114451", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3828369
property_value: exactMatch NCIT:C114451
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006517

[Term]
id: MONDO:0036501
name: refractory malignant neoplasm
def: "A malignant neoplasm that does not respond to treatment." [NCIT:C120186]
synonym: "clinical resistance" RELATED [NCIT:C120186]
synonym: "refractory cancer" EXACT [NCIT:C120186]
synonym: "refractory malignant neoplasm" EXACT [NCIT:C120186]
synonym: "resistant cancer" EXACT [NCIT:C120186]
xref: NCIT:C120186 {source="MONDO:equivalentTo"}
xref: UMLS:C0677936 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0004992 {source="MONDO:Redundant", source="MONDOLEX:0036501", source="NCIT:C120186"} ! cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0677936
property_value: exactMatch NCIT:C120186

[Term]
id: MONDO:0036511
name: childhood malignant kidney neoplasm
def: "A malignant neoplasm that affects the kidney and occurs in childhood." [NCIT:C123907]
synonym: "childhood kidney cancer" EXACT [MONDO:design_pattern]
synonym: "childhood malignant kidney neoplasm" EXACT [NCIT:C123907]
synonym: "childhood malignant kidney tumor" EXACT [NCIT:C123907]
synonym: "childhood malignant renal neoplasm" EXACT [NCIT:C123907]
synonym: "childhood malignant renal tumor" EXACT [NCIT:C123907]
synonym: "kidney cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric kidney cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric kidney cancer" RELATED [MONDO:patterns/childhood]
xref: NCIT:C123907 {source="MONDO:equivalentTo"}
xref: UMLS:C4086162 {source="MONDO:equivalentTo", source="NCIT:C123907"}
is_a: MONDO:0002367 {source="MONDO:Redundant", source="MONDOLEX:0036511", source="NCIT:C123907"} ! kidney cancer
is_a: MONDO:0002730 {source="MONDO:Redundant", source="MONDOLEX:0036511", source="NCIT:C123907"} ! childhood kidney neoplasm
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C123907"} ! childhood malignant neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4086162
property_value: exactMatch NCIT:C123907

[Term]
id: MONDO:0036591
name: adrenal cortex neoplasm
def: "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" [NCIT:C2858]
synonym: "adrenal cortex neoplasm" EXACT [NCIT:C2858]
synonym: "adrenal cortex tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2858]
synonym: "adrenocortical neoplasm" EXACT [NCIT:C2858]
synonym: "adrenocortical tumor" EXACT [NCIT:C2858]
synonym: "neoplasm of adrenal cortex" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of adrenal cortex" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C2858 {source="MONDO:equivalentTo"}
is_a: MONDO:0002816 ! adrenal cortex disease
is_a: MONDO:0021227 ! adrenal gland neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001618
property_value: exactMatch NCIT:C2858

[Term]
id: MONDO:0036595
name: ovarian Sertoli-Leydig cell tumor
def: "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." [NCIT:C2880]
synonym: "Androblastoma" EXACT [NCIT:C2880]
synonym: "androblastoma" EXACT [NCIT:C2880]
synonym: "Arrhenoblastoma" EXACT [NCIT:C2880]
synonym: "arrhenoblastoma" EXACT [NCIT:C2880]
synonym: "ovarian Sertoli-Leydig cell neoplasm" EXACT [NCIT:C2880]
synonym: "ovarian Sertoli-Leydig cell tumor" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig cell tumor of ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig cell tumor of the ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig neoplasm of ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig neoplasm of the ovary" EXACT [NCIT:C2880]
xref: EFO:1000429 {source="MONDO:equivalentTo"}
xref: NCIT:C2880 {source="MONDO:equivalentTo"}
xref: SCTID:254866007 {source="MONDO:equivalentTo"}
xref: UMLS:C0003810 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C2880"}
is_a: MONDO:0021657 ! ovarian sex cord-stromal tumor
property_value: exactMatch http://identifiers.org/snomedct/254866007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0003810
property_value: exactMatch NCIT:C2880

[Term]
id: MONDO:0036688
name: rhabdomyoma
def: "A benign mesenchymal tumor arising from skeletal or cardiac muscle." [NCIT:C3358]
synonym: "rhabdomyoma" EXACT [NCIT:C3358]
synonym: "rhabdomyoma, benign" EXACT [NCIT:C3358]
synonym: "Rhabdomyomatous neoplasm" EXACT [NCIT:C3358]
xref: ICDO:8900/0 {source="NCIT:C3358"}
xref: MESH:D012207 {source="MONDO:equivalentTo"}
xref: NCIT:C3358 {source="MONDO:equivalentTo"}
xref: SCTID:402877008 {source="MONDO:equivalentTo"}
xref: UMLS:C0035411 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3358"}
is_a: MONDO:0003061 {source="MESH:D012207", source="MONDOLEX:0036688", source="NCIT:C3358"} ! benign muscle neoplasm
property_value: exactMatch http://identifiers.org/mesh/D012207
property_value: exactMatch http://identifiers.org/snomedct/402877008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035411
property_value: exactMatch NCIT:C3358

[Term]
id: MONDO:0036696
name: spleen neoplasm
def: "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." [NCIT:C3383]
synonym: "neoplasm of spleen" EXACT [MONDO:patterns/neoplasm]
synonym: "spleen tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "splenic neoplasm" EXACT [NCIT:C3383]
synonym: "tumor of spleen" EXACT [MONDO:patterns/neoplasm]
xref: GARD:0007683 {source="MONDO:equivalentTo"}
xref: NCIT:C3383 {source="MONDO:equivalentTo"}
is_a: MONDO:0002332 ! splenic disease
is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C3383"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0021223 ! digestive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0037999
property_value: exactMatch NCIT:C3383

[Term]
id: MONDO:0036779
name: axillary neoplasm
def: "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." [NCIT:C35749]
synonym: "axilla neoplasm" EXACT []
synonym: "axilla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "axillary neoplasm" EXACT [NCIT:C35749]
synonym: "neoplasm of axilla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of axilla" EXACT [MONDO:patterns/neoplasm]
xref: NCIT:C35749 {source="MONDO:equivalentTo"}
xref: SCTID:126639006 {source="MONDO:equivalentTo"}
xref: UMLS:C1290308 {source="NCIT:C35749", source="MONDO:equivalentTo"}
is_a: MONDO:0021350 {source="NCIT:C35749"} ! neoplasm of thorax
property_value: exactMatch http://identifiers.org/snomedct/126639006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290308
property_value: exactMatch NCIT:C35749

[Term]
id: MONDO:0036781
name: benign axillary neoplasm
def: "A non-metastasizing neoplasm that arises from the structures of the axilla." [NCIT:C35750]
synonym: "axillary neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "benign axillary neoplasm" EXACT [NCIT:C35750]
xref: NCIT:C35750 {source="MONDO:equivalentTo"}
xref: UMLS:C0684828 {source="MONDO:equivalentTo", source="NCIT:C35750"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C35750"} ! thoracic benign neoplasm
is_a: MONDO:0036779 {source="MONDO:Redundant", source="NCIT:C35750"} ! axillary neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0684828
property_value: exactMatch NCIT:C35750

[Term]
id: MONDO:0036870
name: lymphatic vessel neoplasm
def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723]
synonym: "lymph vessel neoplasm" EXACT [NCIT:C3723]
synonym: "lymph vessel tumor" EXACT [NCIT:C3723]
synonym: "lymphatic vessel neoplasm" EXACT [NCIT:C3723]
synonym: "lymphatic vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "neoplasm of lymph vessel" EXACT [NCIT:C3723]
synonym: "neoplasm of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "neoplasm of the lymph vessel" EXACT [NCIT:C3723]
synonym: "neoplasm of the lymphatic vessel" EXACT [NCIT:C3723]
synonym: "tumor of lymph vessel" EXACT [NCIT:C3723]
synonym: "tumor of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "tumor of the lymph vessel" EXACT [NCIT:C3723]
synonym: "tumor of the lymphatic vessel" EXACT [NCIT:C3723]
xref: NCIT:C3723 {source="MONDO:equivalentTo"}
xref: UMLS:C0206619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3723"}
is_a: MONDO:0005385 ! vascular disease
is_a: MONDO:0005833 ! lymphatic system disease
is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C3723"} ! vascular neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206619
property_value: exactMatch NCIT:C3723

[Term]
id: MONDO:0036915
name: benign ovarian mucinous tumor
def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." [NCIT:C40039]
synonym: "benign ovarian mucinous neoplasm" EXACT [NCIT:C40039]
synonym: "benign ovarian mucinous tumor" EXACT [NCIT:C40039]
synonym: "ovarian mucinous neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: EFO:1000115 {source="MONDO:equivalentTo"}
xref: NCIT:C40039 {source="MONDO:equivalentTo"}
xref: UMLS:C1511100 {source="NCIT:C40039", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000646 ! ovarian benign neoplasm
is_a: MONDO:0003756 {source="MONDO:Redundant", source="NCIT:C40039"} ! ovarian mucinous neoplasm
is_a: MONDO:0036976 ! benign epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1511100
property_value: exactMatch NCIT:C40039

[Term]
id: MONDO:0036918
name: punctate acrokeratoderma freckle-like pigmentation
subset: ordo_disease
xref: Orphanet:99710 {source="MONDO:equivalentTo"}
is_a: MONDO:0019271 {source="Orphanet:99710"} ! acrokeratoderma
property_value: exactMatch Orphanet:99710

[Term]
id: MONDO:0036976
name: benign epithelial neoplasm
def: "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." [NCIT:C4092]
synonym: "benign epithelial neoplasm" EXACT [NCIT:C4092]
synonym: "benign epithelial tumor" EXACT [NCIT:C4092]
synonym: "benign epithelioma" EXACT [NCIT:C4092]
synonym: "benign neoplasm of epithelium" EXACT [NCIT:C4092]
synonym: "benign neoplasm of the epithelium" EXACT [NCIT:C4092]
synonym: "benign tumor of epithelium" EXACT [NCIT:C4092]
synonym: "benign tumor of the epithelium" EXACT [NCIT:C4092]
synonym: "epithelial neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "epithelioma, benign" EXACT [NCIT:C4092]
xref: ICDO:8010/0 {source="NCIT:C4092"}
xref: ICDO:8011/0 {source="NCIT:C4092"}
xref: NCIT:C4092 {source="MONDO:equivalentTo"}
xref: UMLS:C0334232 {source="MONDO:equivalentTo", source="NCIT:C4092"}
is_a: MONDO:0005165 ! benign neoplasm
is_a: MONDO:0005626 {source="MONDO:Redundant", source="MONDOLEX:0036976", source="NCIT:C4092"} ! epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334232
property_value: exactMatch NCIT:C4092

[Term]
id: MONDO:0036990
name: benign Leydig cell tumor
def: "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion." [NCIT:C4212]
synonym: "adenoma, interstitial" EXACT [NCIT:C4212]
synonym: "benign interstitial cell neoplasm" EXACT [NCIT:C4212]
synonym: "benign interstitial cell tumor" EXACT [NCIT:C4212]
synonym: "benign Leydig cell neoplasm" EXACT [NCIT:C4212]
synonym: "benign Leydig cell tumor" EXACT [NCIT:C4212]
synonym: "Leydig cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C4212]
xref: ICDO:8650/0 {source="NCIT:C4212"}
xref: NCIT:C4212 {source="MONDO:equivalentTo"}
xref: UMLS:C0334409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4212"}
is_a: MONDO:0000383 ! benign reproductive system neoplasm
is_a: MONDO:0006266 {source="MONDO:Redundant", source="NCIT:C4212"} ! Leydig cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334409
property_value: exactMatch NCIT:C4212

[Term]
id: MONDO:0037002
name: benign phyllodes tumor
def: "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features." [NCIT:C4274]
synonym: "benign cystosarcoma phyllodes" EXACT [NCIT:C4274]
synonym: "benign phyllodes neoplasm" EXACT [NCIT:C4274]
synonym: "benign phyllodes tumor" EXACT [NCIT:C4274]
synonym: "phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:9020/0 {source="NCIT:C4274"}
xref: NCIT:C4274 {source="MONDO:equivalentTo"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C4274"} ! phyllodes tumor
is_a: MONDO:0005165 ! benign neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334501
property_value: exactMatch NCIT:C4274

[Term]
id: MONDO:0037003
name: malignant phyllodes tumor
def: "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." [NCIT:C4275]
synonym: "malignant cystosarcoma phyllodes" EXACT [NCIT:C4275]
synonym: "malignant phyllodes neoplasm" EXACT [NCIT:C4275]
synonym: "malignant phyllodes tumor" EXACT [NCIT:C4275]
synonym: "phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: ICDO:9020/3 {source="NCIT:C4275"}
xref: NCIT:C4275 {source="MONDO:equivalentTo"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C4275"} ! phyllodes tumor
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C4275"} ! malignant mixed neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0600066
property_value: exactMatch NCIT:C4275

[Term]
id: MONDO:0037105
name: lung germ cell tumor
def: "A germ cell tumor that arises from the lung." [NCIT:C45636]
synonym: "lung germ cell neoplasm" EXACT [NCIT:C45636]
synonym: "lung germ cell tumor" EXACT [NCIT:C45636]
xref: NCIT:C45636 {source="MONDO:equivalentTo"}
xref: UMLS:C1708771 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45636"}
is_a: MONDO:0018201 {source="NCIT:C45636"} ! extragonadal germ cell tumor
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C45636"} ! lung neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1708771
property_value: exactMatch NCIT:C45636

[Term]
id: MONDO:0037250
name: childhood testicular neoplasm
def: "A neoplasm that arises from the testis during childhood." [NCIT:C5053]
synonym: "childhood neoplasm of testis" EXACT [NCIT:C5053]
synonym: "childhood neoplasm of the testis" EXACT [NCIT:C5053]
synonym: "childhood testicular neoplasm" EXACT [NCIT:C5053]
synonym: "neoplasm of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric neoplasm of testis" EXACT [MONDO:patterns/childhood, NCIT:C5053]
synonym: "pediatric neoplasm of testis" RELATED [MONDO:patterns/childhood]
synonym: "pediatric neoplasm of the testis" EXACT [NCIT:C5053]
synonym: "pediatric testicular neoplasm" EXACT [NCIT:C5053]
synonym: "testicular tumor, childhood" EXACT [NCIT:C5053]
xref: NCIT:C5053 {source="MONDO:equivalentTo"}
is_a: MONDO:0021079 {source="MONDO:Redundant", source="MONDOLEX:0037250", source="NCIT:C5053"} ! childhood neoplasm
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C5053"} ! neoplasm of testis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1333010
property_value: exactMatch NCIT:C5053

[Term]
id: MONDO:0037251
name: congestive splenomegaly
synonym: "banti syndrome" RELATED []
synonym: "banti's spleen" RELATED []
synonym: "congestive splenomegaly" EXACT []
synonym: "fibrocongestive splenomegaly" RELATED []
xref: SCTID:19058002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002332 {source="linkedlifedata/inferred"} ! splenic disease
property_value: exactMatch http://identifiers.org/snomedct/19058002

[Term]
id: MONDO:0037252
name: thecoma
def: "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported." [NCIT:C3405]
synonym: "thecoma" EXACT [NCIT:C3405]
xref: ICDO:8600/0 {source="NCIT:C3405"}
xref: MESH:D013798 {source="MONDO:equivalentTo"}
xref: NCIT:C3405 {source="MONDO:equivalentTo"}
is_a: MONDO:0006055 {source="NCIT:C3405/inferred"} ! sex cord-stromal tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0039747
property_value: exactMatch http://identifiers.org/mesh/D013798
property_value: exactMatch NCIT:C3405

[Term]
id: MONDO:0037253
name: ovarian thecoma
def: "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." [NCIT:C66989]
synonym: "ovarian theca cell neoplasm" EXACT [NCIT:C66989]
synonym: "ovarian theca cell tumor" EXACT [NCIT:C66989]
synonym: "ovarian thecoma" EXACT [NCIT:C66989]
synonym: "ovary thecoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "theca cell neoplasm of ovary" EXACT [NCIT:C66989]
synonym: "theca cell neoplasm of the ovary" EXACT [NCIT:C66989]
synonym: "theca cell tumor of ovary" EXACT [NCIT:C66989]
synonym: "theca cell tumor of the ovary" EXACT [NCIT:C66989]
synonym: "thecoma of ovary" EXACT [NCIT:C66989]
synonym: "thecoma of the ovary" EXACT [NCIT:C66989]
xref: NCIT:C66989 {source="MONDO:equivalentTo"}
xref: SCTID:254864005 {source="MONDO:equivalentTo"}
is_a: MONDO:0021657 ! ovarian sex cord-stromal tumor
is_a: MONDO:0037252 {source="MONDO:Redundant", source="NCIT:C66989"} ! thecoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1882229
property_value: exactMatch http://identifiers.org/snomedct/254864005
property_value: exactMatch NCIT:C66989

[Term]
id: MONDO:0037254
name: transitional cell neoplasm
synonym: "transitional cell neoplasm" EXACT [NCIT:C6783]
synonym: "transitional cell tumor" EXACT [NCIT:C6783]
xref: NCIT:C6783 {source="MONDO:equivalentTo"}
xref: UMLS:C0334265 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6783", source="MONDO:equivalentTo"}
is_a: MONDO:0005626 {source="NCIT:C6783"} ! epithelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334265
property_value: exactMatch NCIT:C6783

[Term]
id: MONDO:0037255
name: ovarian serous tumor
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." [NCIT:C8431]
synonym: "ovarian serous neoplasm" EXACT [NCIT:C8431]
synonym: "ovarian serous tumor" EXACT [NCIT:C8431]
synonym: "serous neoplasm of ovary" EXACT [NCIT:C8431]
synonym: "serous neoplasm of the ovary" EXACT [NCIT:C8431]
synonym: "serous tumor of ovary" EXACT [NCIT:C8431]
synonym: "serous tumor of the ovary" EXACT [NCIT:C8431]
xref: NCIT:C8431 {source="MONDO:equivalentTo"}
xref: UMLS:C0476122 {source="NCIT:C8431", source="MONDO:equivalentTo"}
is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C8431"} ! ovarian epithelial tumor
is_a: MONDO:0037256 {source="MONDO:Redundant", source="NCIT:C8431"} ! serous neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0476122
property_value: exactMatch NCIT:C8431

[Term]
id: MONDO:0037256
name: serous neoplasm
synonym: "serous neoplasm" EXACT [NCIT:C7074]
xref: NCIT:C7074 {source="MONDO:equivalentTo"}
xref: UMLS:C1335951 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7074"}
is_a: MONDO:0024276 {source="NCIT:C7074"} ! glandular cell neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335951
property_value: exactMatch NCIT:C7074

[Term]
id: MONDO:0037735
name: sebaceous gland cancer
def: "A cancer that involves the sebaceous gland." [MONDO:patterns/location]
synonym: "cancer of sebaceous gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sebaceous gland" EXACT [MONDO:patterns/cancer, NCIT:C8409]
synonym: "malignant neoplasm of the sebaceous gland" EXACT [NCIT:C8409]
synonym: "malignant sebaceous gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C8409]
synonym: "malignant sebaceous gland tumor" EXACT [NCIT:C8409]
synonym: "malignant sebaceous neoplasm" EXACT [NCIT:C8409]
synonym: "malignant sebaceous tumor" EXACT [NCIT:C8409]
synonym: "malignant tumor of sebaceous gland" EXACT [NCIT:C8409]
synonym: "malignant tumor of the sebaceous gland" EXACT [NCIT:C8409]
xref: NCIT:C8409 {source="MONDO:equivalentTo"}
xref: UMLS:C1382026 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8409"}
is_a: MONDO:0002898 ! skin cancer
is_a: MONDO:0006963 {source="MONDO:Redundant", source="NCIT:C8409"} ! sebaceous gland neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1382026
property_value: exactMatch NCIT:C8409

[Term]
id: MONDO:0037736
name: infratentorial neoplasm
def: "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." [NCIT:C3139]
synonym: "brain neoplasms, infratentorial" EXACT [NCIT:C3139]
synonym: "infratentorial neoplasm" EXACT [NCIT:C3139]
synonym: "infratentorial neoplasms" EXACT [NCIT:C3139]
synonym: "infratentorial tumor" EXACT [NCIT:C3139]
synonym: "infratentorial tumors" EXACT [NCIT:C3139]
synonym: "neoplasms, infratentorial" EXACT [NCIT:C3139]
xref: NCIT:C3139 {source="MONDO:equivalentTo"}
is_a: MONDO:0021211 {source="NCIT:C3139"} ! brain neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021432
property_value: exactMatch NCIT:C3139

[Term]
id: MONDO:0037737
name: peritoneal solitary fibrous tumor
def: "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels." [NCIT:C126357]
synonym: "peritoneal solitary fibrous tumor" EXACT [NCIT:C126357]
xref: NCIT:C126357 {source="MONDO:equivalentTo"}
xref: UMLS:C4288403 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C126357"} ! peritoneal neoplasm
is_a: MONDO:0016238 {source="MONDO:Redundant", source="MONDOLEX:0037737", source="NCIT:C126357"} ! solitary fibrous tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288403
property_value: exactMatch NCIT:C126357

[Term]
id: MONDO:0037738
name: cauda equina cancer
def: "A cancer that involves the cauda equina." [MONDO:patterns/location]
synonym: "cancer of cauda equina" EXACT [MONDO:patterns/cancer]
synonym: "malignant cauda equina neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cauda equina" EXACT [MONDO:patterns/cancer]
xref: SCTID:363477002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349017 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003164 {source="MONDO:Redundant", source="linkedlifedata"} ! cauda equina neoplasm
is_a: MONDO:0021089 {source="MONDO:Redundant", source="linkedlifedata"} ! peripheral nervous system cancer
property_value: exactMatch http://identifiers.org/snomedct/363477002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0349017

[Term]
id: MONDO:0037739
name: benign neoplasm of cauda equina
def: "A benign neoplasm that involves the cauda equina." [MONDO:patterns/location]
synonym: "benign neoplasm of cauda equina" EXACT []
xref: SCTID:92047003 {source="MONDO:equivalentTo"}
xref: UMLS:C0686404 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003164 {source="MONDO:Redundant", source="linkedlifedata"} ! cauda equina neoplasm
is_a: MONDO:0056804 ! benign neoplasm of peripheral nervous system
property_value: exactMatch http://identifiers.org/snomedct/92047003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686404

[Term]
id: MONDO:0037740
name: malignant central nervous system mesenchymal, non-meningothelial neoplasm
def: "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." [NCIT:C6758]
synonym: "central nervous system mesenchymal non-meningothelial tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant central nervous system mesenchymal non-meningothelial tumor" EXACT []
synonym: "malignant central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C6758]
synonym: "malignant central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C6758]
synonym: "malignant central nervous system soft tissue neoplasm" EXACT [NCIT:C6758]
synonym: "malignant central nervous system soft tissue tumor" EXACT [NCIT:C6758]
synonym: "malignant CNS soft tissue neoplasm" EXACT [NCIT:C6758]
synonym: "malignant CNS soft tissue tumor" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of the central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of the CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of the central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of the CNS" EXACT [NCIT:C6758]
synonym: "soft tissue cancer of central nervous system" EXACT [NCIT:C6758]
synonym: "soft tissue cancer of the central nervous system" EXACT [NCIT:C6758]
xref: NCIT:C6758 {source="MONDO:equivalentTo"}
xref: UMLS:C1334571 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6758"}
is_a: MONDO:0002714 {source="MONDOLEX:0037740", source="NCIT:C6758"} ! central nervous system cancer
is_a: MONDO:0003244 {source="MONDO:Redundant", source="MONDOLEX:0037740", source="NCIT:C6758"} ! central nervous system mesenchymal non-meningothelial tumor
is_a: MONDO:0024637 {source="MONDOLEX:0037740", source="NCIT:C6758"} ! malignant soft tissue neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334571
property_value: exactMatch NCIT:C6758

[Term]
id: MONDO:0037742
name: endometrioid stromal and related neoplasms
def: "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." [NCIT:C8384]
synonym: "endometrioid stromal and related neoplasms" EXACT [NCIT:C8384]
synonym: "endometrioid stromal and related tumors" EXACT [NCIT:C8384]
xref: NCIT:C8384 {source="MONDO:equivalentTo"}
xref: UMLS:C4287868 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021148 {source="NCIT:C8384"} ! female reproductive system neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3642437
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4287868
property_value: exactMatch NCIT:C8384

[Term]
id: MONDO:0037743
name: mediastinal soft tissue cancer
def: "A malignant neoplasm that arises from the soft tissues of the mediastinum." [NCIT:C6642]
synonym: "malignant mediastinal mesenchymal tumor" EXACT []
synonym: "malignant mediastinal soft tissue neoplasm" EXACT [NCIT:C6642]
synonym: "malignant mediastinal soft tissue tumor" EXACT [NCIT:C6642]
synonym: "malignant soft tissue neoplasm of mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue tumor of mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue tumor of the mediastinum" EXACT [NCIT:C6642]
synonym: "mediastinal mesenchymal tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: NCIT:C6642 {source="MONDO:equivalentTo"}
xref: UMLS:C1334599 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6642"}
is_a: MONDO:0003512 {source="MONDO:Redundant", source="MONDOLEX:0037743", source="NCIT:C6642"} ! mediastinal mesenchymal tumor
is_a: MONDO:0005843 {source="MONDO:Redundant", source="NCIT:C6642"} ! mediastinal cancer
is_a: MONDO:0024637 {source="MONDOLEX:0037743", source="NCIT:C6642"} ! malignant soft tissue neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334599
property_value: exactMatch NCIT:C6642

[Term]
id: MONDO:0037744
name: neoplasm of retromolar area
synonym: "neoplasm of retromolar area" EXACT []
synonym: "tumor of retromolar area" RELATED []
xref: SCTID:126804008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345590 {source="MONDO:equivalentTo"}
is_a: MONDO:0021580 {source="linkedlifedata"} ! neoplasm of jaw
property_value: exactMatch http://identifiers.org/snomedct/126804008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0345590

[Term]
id: MONDO:0037745
name: fibromyxoid tumor
def: "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." [NCIT:C66760]
synonym: "fibromyxoid neoplasm" EXACT [NCIT:C66760]
synonym: "fibromyxoid tumor" EXACT [NCIT:C66760]
synonym: "fibromyxoma" EXACT [NCIT:C66760]
synonym: "fibromyxoma, benign" EXACT [NCIT:C66760]
xref: ICDO:8811/0 {source="NCIT:C66760"}
xref: NCIT:C66760 {source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="NCIT:C66760/inferred", source="NCIT:C7148"} ! soft tissue neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0205766
property_value: exactMatch NCIT:C66760

[Term]
id: MONDO:0037746
name: malignant vaginal mixed epithelial and mesenchymal neoplasm
def: "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." [NCIT:C40276]
synonym: "malignant vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40276]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40276]
xref: NCIT:C40276 {source="MONDO:equivalentTo"}
xref: UMLS:C1512974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C40276"}
is_a: MONDO:0001402 {source="NCIT:C40276"} ! vaginal cancer
is_a: MONDO:0005853 {source="NCIT:C40276"} ! malignant mixed neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512974
property_value: exactMatch NCIT:C40276

[Term]
id: MONDO:0037747
name: spinal injury
def: "A injury that involves the vertebral column." [MONDO:patterns/location]
synonym: "injury of vertebral column" EXACT []
synonym: "vertebral column injury" EXACT [MONDO:patterns/location]
xref: MESH:D013124 {source="MONDO:equivalentTo"}
xref: SCTID:262521009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0021178 ! injury
property_value: exactMatch http://identifiers.org/mesh/D013124
property_value: exactMatch http://identifiers.org/snomedct/262521009

[Term]
id: MONDO:0037748
name: hyperlipoproteinemia
def: "An elevated concentration of lipoproteins." [NCIT:C34709]
synonym: "hyperlipoproteinemia" EXACT [NCIT:C34709]
xref: HP:0010980 {source="MONDO:otherHierarchy"}
xref: NCIT:C34709 {source="MONDO:equivalentTo"}
xref: UMLS:C0020476 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34709", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C34709"} ! metabolic disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020476
property_value: exactMatch NCIT:C34709

[Term]
id: MONDO:0037792
name: carbohydrate metabolism disease
def: "A disease that has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "carbohydrate metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "disorder of carbohydrate metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of carbohydrate metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of carbohydrate metabolism" EXACT []
xref: SCTID:20957000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/20957000

[Term]
id: MONDO:0037807
name: glycerol metabolism disease
def: "A disease that has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycerol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycerol metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycerol metabolism" EXACT []
synonym: "glycerol metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:237977000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342762 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0037792 ! carbohydrate metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/237977000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342762

[Term]
id: MONDO:0037821
name: porphyrin metabolism disease
def: "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of porphyrin and heme metabolism" RELATED []
synonym: "disorder of porphyrin metabolism" EXACT []
synonym: "disorder of porphyrin-containing compound metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of porphyrin-containing compound metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "porphyrin-containing compound metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:29094004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/29094004

[Term]
id: MONDO:0037829
name: purine metabolism disease
def: "A disease that has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of purine metabolism" EXACT []
synonym: "disorder of purine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of purine nucleobase metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "purine nucleobase metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:32612005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268104 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/32612005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268104

[Term]
id: MONDO:0037847
name: vertebral joint disease
def: "A disease that involves the intervertebral joint." [MONDO:patterns/location]
synonym: "disease of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of intervertebral joint" EXACT []
synonym: "disorder of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of intervertebral joint" RELATED [MONDO:patterns/location_top]
synonym: "disorder of joint of spine" EXACT []
synonym: "intervertebral joint disease" EXACT [MONDO:design_pattern]
synonym: "intervertebral joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spondyloarthropathy" RELATED []
xref: SCTID:372109003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 {source="MONDO:Redundant", source="linkedlifedata"} ! vertebral column disease
is_a: MONDO:0006816 {source="MONDO:Redundant", source="linkedlifedata"} ! arthropathy
property_value: exactMatch http://identifiers.org/snomedct/372109003

[Term]
id: MONDO:0037858
name: inherited fatty acid metabolism disorder
def: "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." [NCIT:C117115]
synonym: "disorder of fat oxidation" RELATED []
synonym: "disorder of fatty acid metabolism" EXACT []
synonym: "disorders of fatty-acid metabolism" RELATED []
synonym: "fatty acid metabolism disorder" EXACT [NCIT:C117115]
xref: NCIT:C117115 {source="MONDO:equivalentTo"}
xref: SCTID:39929009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000688 {source="linkedlifedata"} ! inherited organic acidemia
is_a: MONDO:0002525 {source="NCIT:C117115"} ! inherited lipid metabolism disorder
property_value: exactMatch http://identifiers.org/snomedct/39929009
property_value: exactMatch NCIT:C117115

[Term]
id: MONDO:0037870
name: valine metabolism disease
def: "A disease that has its basis in the disruption of valine metabolic process." [MONDO:design_pattern]
synonym: "disorder of valine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of valine metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of valine metabolism" EXACT []
synonym: "valine metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:444756000 {source="MONDO:equivalentTo"}
xref: UMLS:C2919304 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0037871 ! amino acid metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/444756000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2919304

[Term]
id: MONDO:0037871
name: amino acid metabolism disease
def: "A disease that has its basis in the disruption of cellular amino acid metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "amino acid disorder" RELATED []
synonym: "amino acid metabolism disorder" EXACT [NCIT:C97090]
synonym: "amino acidopathy" RELATED []
synonym: "cellular amino acid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "disorder of amino acid metabolism" EXACT []
synonym: "disorder of cellular amino acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cellular amino acid metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: NCIT:C97090 {source="MONDO:equivalentTo"}
xref: SCTID:44779003 {source="MONDO:equivalentTo"}
is_a: MONDO:0045022 ! disorder of organic acid metabolism
property_value: exactMatch http://identifiers.org/snomedct/44779003
property_value: exactMatch NCIT:C97090

[Term]
id: MONDO:0037872
name: bordetellosis
alt_id: MONDO:0020758
def: "Any disease caused by infection with organisms of the genus Bordetella." [https://doi.org/10.1086/589713]
comment: B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. {source="https://doi.org/10.1086/589713]"}
synonym: "Bordetella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella disease or disorder" EXACT []
synonym: "Bordetella Infection" RELATED [MESH:D001885, MSH:D001885]
synonym: "Bordetella infection" RELATED [UMLS:C0006015]
synonym: "Bordetella Infections" RELATED [MSH:D001885]
synonym: "Bordetella infectious disease" EXACT []
synonym: "Bordetellosis" RELATED [UMLS:C0006015]
synonym: "bordetellosis" EXACT []
synonym: "INFECT BORDETELLA" RELATED [MSH:D001885]
synonym: "Infection, Bordetella" RELATED [MESH:D001885, MSH:D001885]
synonym: "Infections, Bordetella" RELATED [MESH:D001885, MSH:D001885]
xref: EFO:1001275 {source="MONDO:equivalentTo"}
xref: ICD9:041.85 {source="linkedlifedata"}
xref: MESH:D001885 {source="UMLS:C0006015", source="MONDO:equivalentTo"}
xref: SCTID:26484003 {source="UMLS:C0006015", source="MONDO:equivalentTo"}
xref: UMLS:C0006015 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D001885"} ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/mesh/D001885
property_value: exactMatch http://identifiers.org/snomedct/26484003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0006015

[Term]
id: MONDO:0037937
name: pyrimidine metabolism disease
def: "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of pyrimidine metabolism" EXACT []
synonym: "disorder of pyrimidine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of pyrimidine nucleobase metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "pyrimidine nucleobase metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:85444005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268127 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/85444005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268127

[Term]
id: MONDO:0037938
name: inborn disorder of aspartate family metabolism
def: "An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
synonym: "inborn aspartate family amino acid metabolic process disorder" EXACT []
synonym: "inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aspartate family amino acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
is_a: MONDO:0004736 ! inherited amino acid metabolic disorder

[Term]
id: MONDO:0037939
name: porphyria
def: "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." [https://en.wikipedia.org/wiki/Porphyria, MONDO:cjm]
comment: Represents both genetic and sporadic forms
synonym: "porphyria" EXACT []
xref: SCTID:418470004 {source="MONDO:equivalentTo"}
is_a: MONDO:0037821 {source="linkedlifedata"} ! porphyrin metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/418470004

[Term]
id: MONDO:0037940
name: inherited auditory system disease
def: "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "auditory system hereditary disorder" EXACT []
synonym: "hereditary auditory system disease" EXACT [MONDO:patterns/hereditary]
xref: SCTID:362991006 {source="MONDO:equivalentTo"}
xref: UMLS:C1285174 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0002409 {source="MONDO:Redundant", source="linkedlifedata"} ! auditory system disease
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0002409 ! auditory system disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/362991006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1285174

[Term]
id: MONDO:0040500
name: glycosylphosphatidylinositol biosynthesis defect 16
synonym: "glycosylphosphatidylinositol biosynthesis defect 16; GPIBD16" RELATED [OMIM:617816]
synonym: "GPIBD16" RELATED [OMIM:617816]
synonym: "mental retardation, autosomal recessive 62" RELATED [OMIM:617816]
xref: OMIM:617816 {source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0019502 {source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability
is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540521
property_value: exactMatch http://identifiers.org/omim/617816

[Term]
id: MONDO:0040501
name: ehlers-danlos syndrome, arthrochalasia type, 2
synonym: "EDS 7B" RELATED [OMIM:617821]
synonym: "EDS VIIB" RELATED []
synonym: "EDSARTH2" RELATED [OMIM:617821]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2; EDSARTH2" RELATED [OMIM:617821]
synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED [OMIM:617821]
xref: OMIM:617821 {source="MONDO:equivalentTo"}
is_a: MONDO:0007525 {source="MONDO:cjm"} ! Ehlers-Danlos syndrome, arthrochalasis type
property_value: exactMatch http://identifiers.org/omim/617821

[Term]
id: MONDO:0040502
name: glucocorticoid deficiency 5
synonym: "GCCD5" RELATED [OMIM:617825]
synonym: "glucocorticoid deficiency 5; GCCD5" RELATED [OMIM:617825]
xref: OMIM:617825 {source="MONDO:equivalentTo"}
is_a: MONDO:0008733 {source="OMIM:617825"} ! familial glucocorticoid deficiency
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540522
property_value: exactMatch http://identifiers.org/omim/617825

[Term]
id: MONDO:0040503
name: blepharocheilodontic syndrome 2
def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCDS2" RELATED [OMIM:617681]
synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1" EXACT []
synonym: "BLEPHAROCHEILODONTIC syndrome 2; BCDS2" RELATED [OMIM:617681]
synonym: "CTNND1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080346 {source="MONDO:equivalentTo"}
xref: OMIM:617681 {source="MONDO:equivalentTo", source="DOID:0080346"}
xref: UMLS:C4540127 {source="MONDO:equivalentTo", source="OMIM:617681"}
is_a: MONDO:0007339 {source="DOID:0080346", source="OMIM:617681"} ! blepharo-cheilo-odontic syndrome
property_value: exactMatch DOID:0080346
property_value: exactMatch http://identifiers.org/omim/617681
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540127

[Term]
id: MONDO:0040566
name: inherited glutathione metabolism disease
def: "An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process." [MONDO:patterns/inborn_metabolic]
synonym: "glutathione metabolism disorder, inherited" EXACT []
synonym: "inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of glutathione metabolism" EXACT []
synonym: "inborn glutathione metabolic process disorder" EXACT []
synonym: "rare inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glutathione metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: SCTID:72262000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268518 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0019241 {source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0056803 ! sulfur metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/72262000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268518

[Term]
id: MONDO:0040653
name: autosomal recessive ocular albinism
def: "Autosomal recessive form of ocular albinism (disease)." [MONDO:patterns/autosomal_recessive]
synonym: "AROA" RELATED []
synonym: "autosomal recessive ocular albinism" EXACT []
synonym: "autosomal recessive ocular albinism (disease)" EXACT []
synonym: "ocular albinism (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: SCTID:78921008 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017304 ! ocular albinism (disease)
property_value: exactMatch http://identifiers.org/snomedct/78921008

[Term]
id: MONDO:0040654
name: autosomal dominant oculocutaneous albinism
def: "Autosomal dominant form of oculocutaneous albinism." [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant oculocutaneous albinism" EXACT []
synonym: "oculocutaneous albinism, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
xref: SCTID:79417003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018910 {source="MONDO:Redundant", source="linkedlifedata"} ! oculocutaneous albinism
property_value: exactMatch http://identifiers.org/snomedct/79417003

[Term]
id: MONDO:0040671
name: class V glucose-6-phosphate dehydrogenase deficiency
comment: Editor note: TODO, see PMID:2633878
synonym: "G6PD class V variant anemia" EXACT []
synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anemia" EXACT []
xref: SCTID:80963002 {source="MONDO:equivalentTo"}
xref: UMLS:C0272060 {source="MONDO:equivalentTo"}
is_a: MONDO:0005775 {source="linkedlifedata"} ! G6PD deficiency
property_value: exactMatch http://identifiers.org/snomedct/80963002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272060

[Term]
id: MONDO:0040673
name: malignant peritoneal germ cell tumor
def: "A malignant germ cell tumor that affects the peritoneum." [NCIT:C136410]
synonym: "malignant peritoneal germ cell tumor" EXACT [NCIT:C136410]
xref: NCIT:C136410 {source="MONDO:equivalentTo"}
xref: UMLS:C4526657 {source="MONDO:equivalentTo"}
is_a: MONDO:0002087 {source="MONDO:Redundant", source="NCIT:C136410"} ! peritoneum cancer
is_a: MONDO:0003113 {source="NCIT:C136410"} ! extragonadal germ cell cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4526657
property_value: exactMatch NCIT:C136410

[Term]
id: MONDO:0040674
name: orgasm disorder
synonym: "abnormal orgasm" RELATED []
synonym: "orgasm disorder" EXACT []
synonym: "orgasmic dysfunction" RELATED []
xref: ICD10:F52.3 {source="MONDO:equivalentTo"}
xref: SCTID:82636008 {source="MONDO:equivalentTo"}
is_a: MONDO:0000947 {source="linkedlifedata"} ! psychosexual disorder
property_value: exactMatch http://identifiers.org/snomedct/82636008

[Term]
id: MONDO:0040675
name: myofibroblastoma
def: "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." [NCIT:C49012]
synonym: "myofibroblastoma" EXACT [NCIT:C49012]
xref: ICDO:8825/0 {source="NCIT:C49012"}
xref: NCIT:C49012 {source="MONDO:equivalentTo"}
is_a: MONDO:0006209 {source="NCIT:C49012/inferred", source="NCIT:C7147"} ! fibroblastic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0242404
property_value: exactMatch NCIT:C49012

[Term]
id: MONDO:0040676
name: great vessel cancer
def: "A malignant neoplasm arising from the great vessels." [NCIT:C4575]
synonym: "cancer of great vessel of heart" EXACT [MONDO:patterns/cancer]
synonym: "great vessel cancer" EXACT [NCIT:C4575]
synonym: "great vessel of heart cancer" EXACT []
synonym: "malignant great vessel neoplasm" EXACT [NCIT:C4575]
synonym: "malignant great vessel of heart neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant great vessel tumor" EXACT [NCIT:C4575]
synonym: "malignant neoplasm of great vessel of heart" EXACT [MONDO:patterns/cancer]
xref: NCIT:C4575 {source="MONDO:equivalentTo"}
xref: UMLS:C3665405 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4575"}
is_a: MONDO:0002095 ! vascular cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3665405
property_value: exactMatch NCIT:C4575

[Term]
id: MONDO:0040677
name: invasive carcinoma
def: "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." [NCIT:C9480]
synonym: "invasive carcinoma" EXACT [NCIT:C9480]
xref: NCIT:C9480 {source="MONDO:equivalentTo"}
xref: UMLS:C1334274 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C9480"}
is_a: MONDO:0004993 {source="MONDO:Redundant", source="MONDOLEX:0040677", source="NCIT:C9480"} ! carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334274
property_value: exactMatch NCIT:C9480

[Term]
id: MONDO:0040678
name: infiltrating urothelial carcinoma
def: "A invasive carcinoma that involves the urothelium." [MONDO:patterns/location]
synonym: "infiltrating transitional cell carcinoma of the urinary tract" EXACT [NCIT:C39853]
synonym: "infiltrating urothelial carcinoma" EXACT [NCIT:C39853]
xref: NCIT:C39853 {source="MONDO:equivalentTo"}
xref: UMLS:C1512751 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C39853"}
is_a: MONDO:0006295 ! malignant urinary system neoplasm
is_a: MONDO:0024337 ! urothelial neoplasm
is_a: MONDO:0040677 {source="MONDO:Redundant", source="NCIT:C39853"} ! invasive carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512751
property_value: exactMatch NCIT:C39853

[Term]
id: MONDO:0040679
name: urothelial carcinoma
def: "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary." [NCIT:C4030]
synonym: "transitional cell car. -uroth." EXACT [NCIT:C4030]
synonym: "transitional cell carcinoma of the urinary tract" EXACT [NCIT:C4030]
synonym: "transitional cell carcinoma of the urothelial tract" EXACT [NCIT:C4030]
synonym: "Uroepithelial carcinoma" EXACT [NCIT:C4030]
synonym: "urothelial carcinoma" EXACT [NCIT:C4030]
xref: EFO:0008528 {source="MONDO:equivalentTo"}
xref: NCIT:C4030 {source="MONDO:equivalentTo"}
xref: UMLS:C2145472 {source="NCIT:C4030", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006295 {source="MONDO:Redundant", source="NCIT:C4030"} ! malignant urinary system neoplasm
is_a: MONDO:0006474 {source="EFO:0008528", source="MONDO:Redundant", source="MONDOLEX:0040679", source="NCIT:C4030"} ! transitional cell carcinoma
is_a: MONDO:0024337 {source="NCIT:C4030"} ! urothelial neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2145472
property_value: exactMatch NCIT:C4030

[Term]
id: MONDO:0040698
name: subacute bursitis
synonym: "subacute bursitis" EXACT []
xref: SCTID:109298000 {source="MONDO:equivalentTo"}
xref: UMLS:C1290159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002471 {source="linkedlifedata"} ! bursitis
property_value: exactMatch http://identifiers.org/snomedct/109298000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290159

[Term]
id: MONDO:0040699
name: necrotizing scleritis
def: "A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern." [https://bjo.bmj.com/content/bjophthalmol/92/3/417]
xref: ICD9:379.09 {source="i2s"}
xref: SCTID:95797003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001718 ! scleritis (disease)
property_value: exactMatch http://identifiers.org/snomedct/95797003

[Term]
id: MONDO:0040700
name: orbital dermoid cyst
def: "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." [NCIT:C4548]
synonym: "dermoid cyst of orbit" EXACT [NCIT:C4548]
synonym: "dermoid cyst of the orbit" EXACT [NCIT:C4548]
synonym: "epidermal dermoid cyst" EXACT [PMID:15110666]
synonym: "orbit dermoid cyst" EXACT [NCIT:C4548]
xref: NCIT:C4548 {source="MONDO:equivalentTo"}
xref: SCTID:255002002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346356 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4548"}
is_a: MONDO:0002022 ! disease of orbital region
is_a: MONDO:0015380 ! facial dermoid cyst
property_value: exactMatch http://identifiers.org/snomedct/255002002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346356
property_value: exactMatch NCIT:C4548

[Term]
id: MONDO:0040728
name: Campylobacter fetus infectious disease
synonym: "infection by Campylobacter fetus" EXACT []
synonym: "infection by vibrio fetus" RELATED []
synonym: "infection caused by Campylobacter fetus" RELATED []
synonym: "infection caused by vibrio fetus" RELATED []
xref: SCTID:111835002 {source="MONDO:equivalentTo"}
xref: UMLS:C0275979 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005688 {source="MONDO:Redundant", source="linkedlifedata"} ! campylobacteriosis
property_value: exactMatch http://identifiers.org/snomedct/111835002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275979

[Term]
id: MONDO:0040732
name: Pseudomonas aeruginosa infectious disease
synonym: "infection caused by Pseudomonas aeruginosa" RELATED []
synonym: "infection due to Pseudomonas aeruginosa" EXACT []
xref: SCTID:11218009 {source="MONDO:equivalentTo"}
xref: UMLS:C0276075 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005141 {source="MONDO:Redundant", source="linkedlifedata"} ! Pseudomonas infection
property_value: exactMatch http://identifiers.org/snomedct/11218009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276075

[Term]
id: MONDO:0040753
name: inactive tuberculosis
synonym: "inactive tuberculosis" EXACT []
synonym: "tuberculosis infection latent" RELATED []
xref: MESH:D055985 {source="MONDO:equivalentTo"}
xref: SCTID:11999007 {source="MONDO:equivalentTo"}
xref: UMLS:C1609538 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="MESH:D055985", source="linkedlifedata"} ! tuberculosis
property_value: exactMatch http://identifiers.org/mesh/D055985
property_value: exactMatch http://identifiers.org/snomedct/11999007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1609538

[Term]
id: MONDO:0040797
name: obsolete vascular headache
def: "an outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." [https://en.wikipedia.org/wiki/Vascular_headache, PMID:3048700]
synonym: "vascular headache" EXACT []
xref: MESH:D014653 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:128187005 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0042376 {source="MEDGEN:kboom-pr97-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/mesh/D014653
property_value: exactMatch http://identifiers.org/snomedct/128187005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042376
is_obsolete: true

[Term]
id: MONDO:0040870
name: primary polydipsia
def: "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." [https://en.wikipedia.org/wiki/Primary_polydipsia]
is_a: MONDO:0001162 {source="linkedlifedata"} ! impulse control disorder

[Term]
id: MONDO:0040871
name: psychogenic polydipsia
def: "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." [https://en.wikipedia.org/wiki/Primary_polydipsia]
synonym: "psychogenic polydipsia" EXACT []
xref: SCTID:15945005 {source="MONDO:equivalentTo"}
is_a: MONDO:0040870 ! primary polydipsia
intersection_of: MONDO:0040870 ! primary polydipsia
intersection_of: disease_arises_from_feature MONDO:0005084 ! mental disorder
disjoint_from: MONDO:0040872 ! non-psychogenic polydipsia
relationship: disease_arises_from_feature MONDO:0005084 ! mental disorder
property_value: exactMatch http://identifiers.org/snomedct/15945005

[Term]
id: MONDO:0040872
name: non-psychogenic polydipsia
def: "A form of primary polydipsia not caused by underlying psychiatric symptoms." [https://en.wikipedia.org/wiki/Primary_polydipsia]
synonym: "idiopathic polydipsia" NARROW []
is_a: MONDO:0040870 ! primary polydipsia

[Term]
id: MONDO:0040922
name: latent early syphilis
synonym: "latent early syphilis" EXACT []
xref: SCTID:186867005 {source="MONDO:equivalentTo"}
xref: UMLS:C0275842 {source="MONDO:equivalentTo"}
is_a: MONDO:0005822 {source="linkedlifedata"} ! latent syphilis
property_value: exactMatch http://identifiers.org/snomedct/186867005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275842

[Term]
id: MONDO:0040923
name: late latent syphilis
def: "Latent syphilis when infection was acquired more than twelve months previously." [NCIT:C128371]
synonym: "late latent syphilis" EXACT []
xref: NCIT:C128371 {source="MONDO:equivalentTo"}
xref: SCTID:186903006 {source="MONDO:equivalentTo"}
xref: UMLS:C1260915 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004497 {source="linkedlifedata"} ! tertiary syphilis
is_a: MONDO:0005822 {source="MONDOLEX:0040923", source="NCIT:C128371", source="linkedlifedata"} ! latent syphilis
property_value: exactMatch http://identifiers.org/snomedct/186903006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260915
property_value: exactMatch NCIT:C128371

[Term]
id: MONDO:0040925
name: latent yaws
synonym: "latent yaws" EXACT []
xref: SCTID:186973005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006019 {source="linkedlifedata"} ! yaws
property_value: exactMatch http://identifiers.org/snomedct/186973005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153240

[Term]
id: MONDO:0040964
name: obsolete superimposed infection
synonym: "superadded infection" RELATED []
synonym: "superimposed infection" EXACT []
synonym: "suprainfection" RELATED []
xref: SCTID:193198003 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0038826 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/snomedct/193198003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0038826
is_obsolete: true

[Term]
id: MONDO:0040998
name: Pasteurella multocida infectious disease
synonym: "infection by Pasteurella multocida" EXACT []
synonym: "infection caused by Pasteurella multocida" RELATED []
xref: GARD:0009774 {source="MONDO:equivalentTo"}
xref: SCTID:197718007 {source="MONDO:equivalentTo"}
xref: UMLS:C1260911 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005901 {source="MONDO:Redundant", source="linkedlifedata"} ! pasteurellosis
property_value: exactMatch http://identifiers.org/snomedct/197718007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1260911

[Term]
id: MONDO:0041008
name: obsolete contact dermatitis caused by poison oak
synonym: "contact dermatitis caused by poison oak" EXACT []
synonym: "contact dermatitis due to poison oak" EXACT []
xref: SCTID:200824008 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0263283 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/snomedct/200824008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263283
is_obsolete: true

[Term]
id: MONDO:0041052
name: postherpetic neuralgia
synonym: "PHN - post-herpetic neuralgia" RELATED []
synonym: "post-zoster neuralgia" RELATED []
synonym: "postherpetic neuralgia" EXACT []
xref: SCTID:2177002 {source="MONDO:equivalentTo"}
xref: UMLS:C0032768 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021677 {source="linkedlifedata"} ! post-infectious neuralgia
property_value: exactMatch http://identifiers.org/snomedct/2177002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032768

[Term]
id: MONDO:0041086
name: mixed anxiety and depressive disorder
synonym: "anxiety depression" RELATED []
synonym: "mixed anxiety and depressive disorder" EXACT []
xref: SCTID:231504006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002050 ! depressive disorder
is_a: MONDO:0005618 ! anxiety disorder
intersection_of: MONDO:0002050 ! depressive disorder
intersection_of: MONDO:0005618 ! anxiety disorder
property_value: exactMatch http://identifiers.org/snomedct/231504006

[Term]
id: MONDO:0041093
name: central retinal vein occlusion with macular edema
synonym: "central retinal vein occlusion with macular edema" EXACT []
xref: SCTID:232039004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002303 ! central retinal vein occlusion
intersection_of: MONDO:0002303 ! central retinal vein occlusion
intersection_of: disease_has_feature MONDO:0003005 ! macular retinal edema
relationship: disease_has_feature MONDO:0003005 ! macular retinal edema
property_value: exactMatch http://identifiers.org/snomedct/232039004

[Term]
id: MONDO:0041095
name: malignant otitis externa caused by Pseudomonas aeruginosa
def: "An malignant otitis externa caused by infection with Pseudomonas aeruginosa." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "malignant otitis externa caused by Pseudomonas aeruginosa" EXACT []
synonym: "malignant otitis externa due to Pseudomonas aeruginosa" EXACT []
synonym: "Pseudomonas aeruginosa caused malignant otitis externa" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pseudomonas aeruginosa malignant otitis externa" EXACT []
xref: SCTID:232230009 {source="MONDO:equivalentTo"}
xref: UMLS:C0395818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001050 {source="MONDO:Redundant", source="MONDOLEX:0041095", source="linkedlifedata"} ! malignant otitis externa
is_a: MONDO:0040732 ! Pseudomonas aeruginosa infectious disease
property_value: exactMatch http://identifiers.org/snomedct/232230009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0395818

[Term]
id: MONDO:0041114
name: peripheral ischemia
def: "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." [MEDGEN:115991]
synonym: "peripheral ischemia" EXACT []
synonym: "peripheral ischemic vascular disease" RELATED []
xref: SCTID:233958001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005053 {source="MONDOLEX"} ! ischemic disease
is_a: MONDO:0005386 ! peripheral arterial disease
property_value: exactMatch http://identifiers.org/snomedct/233958001

[Term]
id: MONDO:0041154
name: disease of neck of urinary bladder
synonym: "functional disorder of bladder neck and sphincter mechanism" EXACT []
xref: SCTID:236644005 {source="MONDO:equivalentTo"}
is_a: MONDO:0006026 {source="linkedlifedata"} ! urinary bladder disease
property_value: exactMatch http://identifiers.org/snomedct/236644005

[Term]
id: MONDO:0041161
name: endometrial hyperplasia
def: "A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." [NCIT:C3013]
comment: Editor note: cede to HPO
synonym: "endometrial hyperplasia" EXACT []
synonym: "hyperplasia of endometrium" EXACT [NCIT:C3013]
synonym: "hyperplasia of the endometrium" EXACT [NCIT:C3013]
xref: HP:0040298 {source="MONDO:otherHierarchy"}
xref: NCIT:C3013 {source="MONDO:equivalentTo"}
xref: SCTID:237072009 {source="MONDO:equivalentTo"}
xref: UMLS:C0014173 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000931 {source="NCIT:C3013", source="linkedlifedata"} ! endometrial disease
property_value: exactMatch http://identifiers.org/snomedct/237072009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014173
property_value: exactMatch NCIT:C3013

[Term]
id: MONDO:0041167
name: carcinoid crisis
def: "A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia." [https://www.carcinoid.org/glossary/carcinoid-crisis/]
comment: Editor note: consider ceding to HPO
synonym: "carcinoid crisis" EXACT []
xref: SCTID:237833006 {source="MONDO:equivalentTo"}
xref: UMLS:C0342569 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006689 {source="linkedlifedata"} ! carcinoid syndrome
property_value: exactMatch http://identifiers.org/snomedct/237833006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342569

[Term]
id: MONDO:0041182
name: polymorphic light eruption
synonym: "polymorphic light eruption" EXACT []
synonym: "polymorphic photodermatitis" RELATED []
synonym: "polymorphous light eruption" EXACT []
xref: SCTID:238525001 {source="MONDO:equivalentTo"}
xref: UMLS:C0031736 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0006597 {source="MONDOLEX:0041182", source="linkedlifedata"} ! photosensitivity disease
property_value: exactMatch http://identifiers.org/snomedct/238525001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0031736

[Term]
id: MONDO:0041186
name: Rowell syndrome
def: "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities." [https://en.wikipedia.org/wiki/Rowell%27s_syndrome, PMID:19891909]
synonym: "lupus erythematosus and erythema multiforme-like syndrome" EXACT []
synonym: "Rowell's syndrome" RELATED []
xref: SCTID:238926009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406637 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005282 {source="linkedlifedata"} ! cutaneous lupus erythematosus
relationship: disease_shares_features_of MONDO:0006545 ! erythema multiforme
property_value: exactMatch http://identifiers.org/snomedct/238926009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406637

[Term]
id: MONDO:0041259
name: diphtheritic myocarditis
def: "An myocarditis caused by infection with Corynebacterium diphtheriae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Corynebacterium diphtheriae caused myocarditis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Corynebacterium diphtheriae myocarditis" EXACT []
synonym: "diphtheritic myocarditis" EXACT []
xref: SCTID:26117009 {source="MONDO:equivalentTo"}
xref: UMLS:C0152952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001114 {source="linkedlifedata"} ! bacterial myocarditis
is_a: MONDO:0005504 {source="MONDO:Redundant", source="linkedlifedata"} ! diphtheria
property_value: exactMatch http://identifiers.org/snomedct/26117009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152952

[Term]
id: MONDO:0041261
name: disorder of acid-base balance
synonym: "disorder of acid-base balance" EXACT []
synonym: "disturbance of acid-base balance" RELATED []
xref: SCTID:26436007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268029 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/26436007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268029

[Term]
id: MONDO:0041284
name: primary motor cortex epilepsy
def: "A epilepsy that involves the primary motor cortex." [MONDO:patterns/location]
comment: Editor note: TODO. Request Jacksonian seizures from HP?
synonym: "epilepsy of primary motor cortex" EXACT [MONDO:design_pattern]
synonym: "Jacksonian epilepsy" RELATED []
synonym: "motor cortex epilepsy" RELATED []
synonym: "primary motor cortex epilepsy" EXACT [MONDO:patterns/location]
xref: SCTID:267592003 {source="MONDO:equivalentTo"}
xref: UMLS:C0234978 {source="MONDO:equivalentTo"}
is_a: MONDO:0002612 {source="MONDO:Redundant", source="https://en.wikipedia.org/wiki/Frontal_lobe_epilepsy", source="linkedlifedata"} ! frontal lobe epilepsy
is_a: MONDO:0044996 ! cerebral cortex disease
property_value: exactMatch http://identifiers.org/snomedct/267592003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0234978

[Term]
id: MONDO:0041295
name: acute papillary necrosis
def: "Acute form of kidney papillary necrosis." [MONDO:patterns/acute]
synonym: "acute kidney papillary necrosis" EXACT [MONDO:design_pattern]
synonym: "acute necrotizing papillitis" RELATED []
synonym: "acute papillary necrosis" EXACT []
synonym: "acute renal medullary necrosis" RELATED []
synonym: "kidney papillary necrosis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: SCTID:270494003 {source="MONDO:equivalentTo"}
is_a: MONDO:0006821 {source="MONDO:Redundant", source="linkedlifedata"} ! kidney papillary necrosis
is_a: MONDO:0020683 ! acute disease
property_value: exactMatch http://identifiers.org/snomedct/270494003

[Term]
id: MONDO:0041366
name: acute epiglottitis
def: "Acute form of epiglottitis." [MONDO:patterns/acute]
synonym: "acute epiglottitis" EXACT []
synonym: "acute epiglottitis and supraglottitis" RELATED []
synonym: "epiglottitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: SCTID:29608009 {source="MONDO:equivalentTo"}
is_a: MONDO:0004777 {source="linkedlifedata"} ! acute laryngitis
is_a: MONDO:0005753 {source="MONDO:Redundant", source="linkedlifedata"} ! epiglottitis
property_value: exactMatch http://identifiers.org/snomedct/29608009

[Term]
id: MONDO:0041403
name: toxic amblyopia
def: "A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors." [https://en.wikipedia.org/wiki/Toxic_amblyopia, MONDO:cjm]
synonym: "nutritional optic neuropathy" NARROW [https://en.wikipedia.org/wiki/Toxic_amblyopia]
synonym: "tobacco amblyopia" NARROW []
xref: SCTID:30483005 {source="MONDO:equivalentTo"}
is_a: MONDO:0001019 ! suppression amblyopia
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch http://identifiers.org/snomedct/30483005

[Term]
id: MONDO:0041440
name: obsolete functional visual loss
synonym: "functional visual loss" EXACT []
synonym: "nonphysiologic acuity loss" RELATED []
synonym: "nonphysiologic vision loss" RELATED []
xref: SCTID:313165001 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0730512 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://identifiers.org/snomedct/313165001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0730512
is_obsolete: true

[Term]
id: MONDO:0041447
name: metastatic malignant neoplasm in the colon
def: "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site." [NCIT:C8411]
synonym: "metastatic malignant neoplasm in the colon" EXACT [NCIT:C8411]
synonym: "metastatic malignant neoplasm to the colon" EXACT [NCIT:C8411]
synonym: "metastatic neoplasm to the colon" EXACT [NCIT:C8411]
synonym: "metastatic tumor to the colon" EXACT [NCIT:C8411]
xref: NCIT:C8411 {source="MONDO:equivalentTo"}
xref: UMLS:C0346974 {source="NCIT:C8411", source="MONDO:equivalentTo"}
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4581", source="NCIT:C8411/inferred"} ! metastatic malignant neoplasm
intersection_of: MONDO:0024880 ! metastatic malignant neoplasm
intersection_of: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm
relationship: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm
relationship: excluded_subClassOf MONDO:0021063 {source="NCIT:C8411"} ! malignant colon neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346974
property_value: exactMatch NCIT:C8411

[Term]
id: MONDO:0041448
name: metastasis from malignant tumor of colon
synonym: "metastasis from malignant tumor of colon" EXACT []
xref: SCTID:314998002 {source="MONDO:equivalentTo"}
xref: UMLS:C1282500 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021063 ! malignant colon neoplasm
is_a: MONDO:0024880 ! metastatic malignant neoplasm
property_value: exactMatch http://identifiers.org/snomedct/314998002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1282500

[Term]
id: MONDO:0041526
name: pregnancy disorder with abortive outcome
comment: Editor note: consider obsoleting
synonym: "pregnancy with abortive outcome" RELATED []
xref: ICD10:O00.O08 {source="MONDO:equivalentTo"}
xref: SCTID:363681007 {source="MONDO:equivalentTo"}
is_a: MONDO:0024575 {source="linkedlifedata"} ! pregnancy disorder
property_value: exactMatch http://identifiers.org/snomedct/363681007

[Term]
id: MONDO:0041535
name: mesenteric lymphadenitis due to Yersinia infection
def: "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "lymphadenitis mesenterialis Masshoff" EXACT []
synonym: "Masshoff's syndrome" EXACT []
synonym: "mesenteric lymphadenitis due to Yersinia pseudotuberculosis" EXACT []
synonym: "Yersinia pseudotuberculosis caused mesenteric lymphadenitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Yersinia pseudotuberculosis mesenteric lymphadenitis" EXACT []
xref: SCTID:13272007 {source="MONDO:equivalentTo"}
xref: UMLS:C0275758 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0001116 ! mesenteric lymphadenitis
is_a: MONDO:0007024 {source="MONDO:Redundant", source="MONDOLEX:0041535", source="linkedlifedata"} ! Yersinia pseudotuberculosis infectious disease
property_value: exactMatch http://identifiers.org/snomedct/13272007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275758

[Term]
id: MONDO:0041536
name: Far-East scarlet-like fever
def: "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe." [PMID:26819960]
synonym: "FESLF" EXACT [PMID:26819960]
synonym: "Izumi fever" EXACT [PMID:26819960]
xref: SCTID:47277009 {source="MONDO:equivalentTo"}
xref: UMLS:C0277513 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0007024 {source="PMID:26819960", source="linkedlifedata"} ! Yersinia pseudotuberculosis infectious disease
property_value: exactMatch http://identifiers.org/snomedct/47277009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0277513

[Term]
id: MONDO:0041656
name: ST-elevation myocardial infarction
def: "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG." [https://www.ecgmedicaltraining.com/what-is-a-stemi/]
synonym: "acute-ST segment elevation myocardial infarction" EXACT []
synonym: "ST segment elevation myocardial infarction" EXACT []
synonym: "STEMI" EXACT [https://www.ecgmedicaltraining.com/what-is-a-stemi/]
xref: EFO:0008585 {source="MONDO:equivalentTo"}
xref: SCTID:401303003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004781 {source="linkedlifedata"} ! acute myocardial infarction
property_value: exactMatch http://identifiers.org/snomedct/401303003

[Term]
id: MONDO:0041751
name: multibacillary leprosy
def: "A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response." [MONDO:cjm, PMID:27219008]
synonym: "lepromatous leprosy" EXACT [MONDO:cjm, PMID:27219008]
synonym: "multibacillary leprosy" EXACT []
xref: SCTID:416257001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="linkedlifedata"} ! leprosy
property_value: exactMatch http://identifiers.org/snomedct/416257001

[Term]
id: MONDO:0041752
name: paucibacillary leprosy
def: "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." [MONDO:cjm, PMID:27219008]
synonym: "paucibacillary leprosy" EXACT []
synonym: "tuberculoid leprosy" EXACT [MONDO:cjm, PMID:27219008]
xref: SCTID:416483009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005124 {source="linkedlifedata"} ! leprosy
property_value: exactMatch http://identifiers.org/snomedct/416483009

[Term]
id: MONDO:0041755
name: twin reversal arterial perfusion syndrome
synonym: "twin reversal arterial perfusion syndrome" EXACT []
xref: SCTID:417006004 {source="MONDO:equivalentTo"}
xref: UMLS:C1562817 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0019805 {source="linkedlifedata"} ! twin to twin transfusion syndrome
property_value: exactMatch http://identifiers.org/snomedct/417006004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562817

[Term]
id: MONDO:0041775
name: intraoperative floppy iris syndrome
synonym: "intraoperative floppy iris syndrome" EXACT []
xref: SCTID:418801006 {source="MONDO:equivalentTo"}
xref: UMLS:C1688637 {source="MONDO:equivalentTo"}
is_a: MONDO:0002289 {source="linkedlifedata"} ! iris disease
property_value: exactMatch http://identifiers.org/snomedct/418801006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1688637

[Term]
id: MONDO:0041806
name: drug-resistant tuberculosis
synonym: "drug resistant tuberculosis" EXACT []
xref: SCTID:423709000 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="linkedlifedata"} ! tuberculosis
property_value: exactMatch http://identifiers.org/snomedct/423709000

[Term]
id: MONDO:0041825
name: bacterial meningitis caused by gram-negative bacteria
synonym: "bacterial meningitis caused by gram-negative bacteria" EXACT []
synonym: "bacterial meningitis due to gram-negative bacteria" EXACT []
synonym: "gram-negative bacterial meningitis" RELATED []
synonym: "meningitis with gram negative bacteria" RELATED []
xref: SCTID:425887005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854215 {source="MONDO:equivalentTo"}
is_a: MONDO:0006670 ! bacterial meningitis
is_a: MONDO:0021678 ! gram-negative bacterial infections
intersection_of: MONDO:0006670 ! bacterial meningitis
intersection_of: MONDO:0021678 ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/snomedct/425887005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854215

[Term]
id: MONDO:0041850
name: pneumonia caused by gram negative bacteria
synonym: "gram negative pneumonia" RELATED []
synonym: "pneumonia caused by gram negative bacteria" EXACT []
synonym: "pneumonia caused by gram-negative bacteria" RELATED []
synonym: "pneumonia due to gram negative bacteria" EXACT []
synonym: "pneumonia due to gram-negative bacteria" RELATED []
xref: SCTID:430395005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854248 {source="MONDO:equivalentTo"}
is_a: MONDO:0004652 ! bacterial pneumonia
is_a: MONDO:0021678 ! gram-negative bacterial infections
intersection_of: MONDO:0004652 ! bacterial pneumonia
intersection_of: MONDO:0021678 ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/snomedct/430395005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0854248

[Term]
id: MONDO:0041879
name: staphylococcus aureus pneumonia
def: "An pneumonia caused by infection with Staphylococcus aureus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "pneumonia caused by staphylococcus aureus" RELATED []
synonym: "pneumonia due to staphylococcus aureus" EXACT []
synonym: "Staphylococcus aureus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus aureus pneumonia" EXACT []
synonym: "staphylococcus aureus pneumonia" EXACT []
xref: SCTID:441658007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005545 {source="MONDO:Redundant", source="linkedlifedata"} ! staphylococcus aureus infection
is_a: MONDO:0005970 {source="MONDO:Redundant", source="linkedlifedata"} ! staphylococcal pneumonia
property_value: exactMatch http://identifiers.org/snomedct/441658007

[Term]
id: MONDO:0041903
name: gonococcal infection of joint
synonym: "gonococcal arthritis" RELATED []
synonym: "gonococcal infection of joint" EXACT []
synonym: "gonococcal joint infection" RELATED []
synonym: "gonococcal rheumatism" RELATED []
xref: SCTID:44743006 {source="MONDO:equivalentTo"}
xref: UMLS:C0153216 {source="MONDO:equivalentTo"}
is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata"} ! gonorrhea
is_a: MONDO:0004471 {source="linkedlifedata"} ! bacterial arthritis
property_value: exactMatch http://identifiers.org/snomedct/44743006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0153216

[Term]
id: MONDO:0041959
name: fibrosis of bile duct
synonym: "biliary duct fibrosis" RELATED []
synonym: "biliary sclerosis" RELATED []
synonym: "fibrosis of bile duct" EXACT []
xref: SCTID:48124008 {source="MONDO:equivalentTo"}
xref: UMLS:C0520571 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002887 {source="linkedlifedata"} ! bile duct disease
property_value: exactMatch http://identifiers.org/snomedct/48124008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520571

[Term]
id: MONDO:0041996
name: thallium poisoning
synonym: "thallium poisoning" EXACT []
xref: SCTID:51040009 {source="MONDO:equivalentTo"}
is_a: MONDO:0023305 {source="linkedlifedata"} ! heavy metal poisoning
property_value: exactMatch http://identifiers.org/snomedct/51040009

[Term]
id: MONDO:0042233
name: disseminated candidiasis
def: "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." [https://en.wikipedia.org/wiki/Candidiasis]
subset: gard_rare
synonym: "disseminated candida" RELATED []
synonym: "disseminated candidiasis" EXACT []
synonym: "disseminated candidosis" RELATED []
synonym: "invasive candidiasis" EXACT []
synonym: "systemic candida infections" RELATED [GARD:0001076]
synonym: "systemic candidiasis" RELATED []
xref: GARD:0001076 {source="MONDO:equivalentTo"}
xref: NCIT:C116812 {source="MONDO:equivalentTo"}
xref: SCTID:70572005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002026 {source="MONDO:Redundant", source="NCIT:C116812", source="linkedlifedata"} ! candidiasis
is_a: MONDO:0045033 ! opportunistic systemic mycosis
intersection_of: MONDO:0002026 ! candidiasis
intersection_of: has_modifier MONDO:0022202 ! disseminated
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153252
property_value: exactMatch http://identifiers.org/snomedct/70572005
property_value: exactMatch NCIT:C116812

[Term]
id: MONDO:0042370
name: Yersinia enterocolitica infectious disease
synonym: "infection by Yersinia enterocolitica" EXACT []
synonym: "infection caused by Yersinia enterocolitica" RELATED []
xref: SCTID:80960004 {source="MONDO:equivalentTo"}
is_a: MONDO:0007023 ! Yersinia infectious disease
property_value: exactMatch http://identifiers.org/snomedct/80960004

[Term]
id: MONDO:0042433
name: mycotic endocarditis
def: "An endocarditis (disease) caused by infection with Fungi." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "fungal endocarditis" RELATED []
synonym: "Fungi caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi endocarditis (disease)" EXACT []
synonym: "mycotic endocarditis" EXACT []
xref: SCTID:86348002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276648 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000565 {source="MONDO:Redundant", source="linkedlifedata"} ! infective endocarditis
is_a: MONDO:0002041 {source="MONDO:Redundant", source="linkedlifedata"} ! fungal infectious disease
property_value: exactMatch http://identifiers.org/snomedct/86348002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276648

[Term]
id: MONDO:0042451
name: endomyometritis
def: "An inflammation of the endometrium and the myometrium." [https://en.wikipedia.org/wiki/Endometritis#cite_note-isbn0-7817-5532-8-2, ISBN:0-7817-5532-8]
synonym: "endomyometritis" EXACT []
xref: SCTID:88027004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000497 ! pyometritis
is_a: MONDO:0000918 {source="MONDO:Redundant", source="linkedlifedata"} ! endometritis
property_value: exactMatch http://identifiers.org/snomedct/88027004

[Term]
id: MONDO:0042452
name: tertiary lesion of yaws
synonym: "tertiary lesion of yaws" EXACT []
synonym: "tertiary stage of yaws" RELATED []
synonym: "tertiary yaws" RELATED []
xref: SCTID:88037009 {source="MONDO:equivalentTo"}
xref: UMLS:C0343833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006019 {source="linkedlifedata"} ! yaws
property_value: exactMatch http://identifiers.org/snomedct/88037009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343833

[Term]
id: MONDO:0042458
name: Trichinella spiralis infectious disease
def: "An disease or disorder caused by infection with Trichinella spiralis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "infection by larvae of Trichinella spiralis" EXACT []
synonym: "infection caused by larvae of Trichinella spiralis" RELATED []
synonym: "Trichinella spiralis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichinella spiralis disease or disorder" EXACT []
synonym: "trichinelliasis caused by Trichinella spiralis" RELATED []
synonym: "trichinellosis caused by Trichinella spiralis" RELATED []
synonym: "trichiniasis caused by Trichinella spiralis" RELATED []
synonym: "trichinosis caused by Trichinella spiralis" RELATED []
xref: SCTID:88264003 {source="MONDO:equivalentTo"}
xref: UMLS:C3887668 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005992 ! trichinosis
is_a: MONDO:0019444 {source="linkedlifedata"} ! Trichinellosis
property_value: exactMatch http://identifiers.org/snomedct/88264003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3887668

[Term]
id: MONDO:0042484
name: disseminated sporotrichosis
synonym: "disseminated sporotrichosis" EXACT []
xref: SCTID:91051003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276725 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000256 ! systemic mycosis
is_a: MONDO:0005968 {source="MONDO:Redundant", source="linkedlifedata"} ! sporotrichosis
intersection_of: MONDO:0005968 ! sporotrichosis
intersection_of: has_modifier MONDO:0022202 ! disseminated
property_value: exactMatch http://identifiers.org/snomedct/91051003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276725

[Term]
id: MONDO:0042485
name: infective arthritis
def: "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26700]
synonym: "infective arthritis" EXACT [NCIT:C26700]
synonym: "septic arthritis" EXACT [NCIT:C26700]
xref: GARD:0006781 {source="MONDO:equivalentTo"}
xref: NCIT:C26700 {source="MONDO:equivalentTo"}
is_a: MONDO:0005578 {source="MONDO:Redundant", source="MONDOLEX:0042485", source="NCIT:C26700"} ! arthritis
intersection_of: MONDO:0005578 ! arthritis
intersection_of: realized_in_response_to_stimulus MONDO:0005550 ! infectious disease
relationship: realized_in_response_to_stimulus MONDO:0005550 ! infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003869
property_value: exactMatch NCIT:C26700

[Term]
id: MONDO:0042486
name: polyposis syndrome, hereditary mixed, 1
subset: predisposition
synonym: "chromosome 15Q13-q14 Duplication syndrome, 40-Kb" RELATED [OMIM:601228]
synonym: "colorectal adenoma and carcinoma 1" RELATED [OMIM:601228]
synonym: "colorectal cancer, susceptibility to, 4" RELATED [OMIM:601228]
synonym: "colorectal cancer, susceptibility to, on chromosome 15" RELATED [OMIM:601228]
synonym: "HMPS1" RELATED [OMIM:601228]
synonym: "polyposis syndrome, hereditary mixed, 1; HMPS1" RELATED [OMIM:601228]
xref: OMIM:601228 {source="MONDO:equivalentTo"}
is_a: MONDO:0011023 ! hereditary mixed polyposis syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1832587
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677290
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677291
property_value: exactMatch http://identifiers.org/omim/601228

[Term]
id: MONDO:0042487
name: uterine cervix carcinoma in situ
def: "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" [NCIT:C4000]
synonym: "carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "carcinoma in situ of cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of uterine cervix" EXACT [DOID:8991, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma of cervix stage 0" EXACT [DOID:8991]
synonym: "cervical cancer stage 0 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [DOID:8991]
synonym: "cervical Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix Ca in situ" EXACT [DOID:8991]
synonym: "cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri carcinoma in situ" RELATED [DOID:8991]
synonym: "cervix uteri carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN III" EXACT [DOID:8991]
synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991]
synonym: "FIGO stage 0 carcinoma of cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of cervix uteri" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the cervix uteri" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the uterine cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of uterine cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervical carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervix carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervix uteri carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 uterine cervix carcinoma" EXACT [NCIT:C4000]
synonym: "grade 3 cervical intraepithelial neoplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "severe cervical dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of cervix" EXACT [DOID:8991]
synonym: "severe dysplasia of cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the cervix uteri" EXACT EXCLUDE [DOID:8991]
synonym: "severe dysplasia of the cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "squamous intraepithelial neoplasia, grade III" EXACT [DOID:8991]
synonym: "stage 0 cervical cancer" EXACT [NCIT:C4000]
synonym: "stage 0 cervical cancer aJCC v6" EXACT [NCIT:C4000]
synonym: "stage 0 uterine cervix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "uterine cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "uterine cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "uterine cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
xref: COHD:194611 {source="MONDO:equivalentTo"}
xref: DOID:8991 {source="MONDO:equivalentTo"}
xref: ICD10:D06 {source="DOID:8991"}
xref: ICD10:D06.9 {source="DOID:8991"}
xref: ICD10CM:D06 {source="DOID:8991"}
xref: ICD10CM:D06.9 {source="DOID:8991"}
xref: ICD9:233.1 {source="DOID:8991"}
xref: MESH:D018290 {source="MONDO:equivalentTo", source="DOID:8991"}
xref: NCIT:C4000 {source="MONDO:equivalentTo", source="DOID:8991"}
xref: SCTID:254889004 {source="MONDO:equivalentTo", source="DOID:8991", source="MONDO:kboom-pr-0.95/0.84/1.34"}
xref: UMLS:C0851140 {source="NCIT:C4000", source="MONDO:equivalentTo", source="DOID:8991"}
is_a: MONDO:0004710 ! uterus carcinoma in situ
is_a: MONDO:0005131 ! cervical carcinoma
property_value: closeMatch http://identifiers.org/snomedct/145597000
property_value: closeMatch http://identifiers.org/snomedct/154637008
property_value: closeMatch http://identifiers.org/snomedct/168405008
property_value: closeMatch http://identifiers.org/snomedct/189339007
property_value: closeMatch http://identifiers.org/snomedct/20365006
property_value: closeMatch http://identifiers.org/snomedct/22725004
property_value: closeMatch http://identifiers.org/snomedct/252990005
property_value: closeMatch http://identifiers.org/snomedct/252991009
property_value: closeMatch http://identifiers.org/snomedct/269491003
property_value: closeMatch http://identifiers.org/snomedct/269649008
property_value: closeMatch http://identifiers.org/snomedct/92564006
property_value: exactMatch DOID:8991
property_value: exactMatch http://identifiers.org/mesh/D018290
property_value: exactMatch http://identifiers.org/snomedct/254889004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851140
property_value: exactMatch NCIT:C4000

[Term]
id: MONDO:0042488
name: Cestode infectious disease
def: "Infections with true tapeworms of the helminth subclass Cestoda." [MESH:D002590]
synonym: "Bertielliases" RELATED [MESH:D002590]
synonym: "Bertielliasis" RELATED [MESH:D002590]
synonym: "Cenuriases" RELATED [MESH:D002590]
synonym: "Cenuriasis" RELATED [MESH:D002590]
synonym: "Cestoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cestoda disease or disorder" EXACT []
synonym: "Cestoda infectious disease" EXACT []
synonym: "cestode infection" EXACT [MESH:D002590]
synonym: "cestode infestation" RELATED []
synonym: "Cestodiasis" RELATED []
synonym: "Cestodosis" RELATED []
synonym: "Coenuriases" RELATED [MESH:D002590]
synonym: "Coenuriasis" RELATED [MESH:D002590]
synonym: "Dipylidiases" RELATED [MESH:D002590]
synonym: "Dipylidiasis" RELATED [MESH:D002590]
synonym: "disease due to Cestoda" RELATED []
synonym: "infection, cestode" RELATED [MESH:D002590]
synonym: "infection, tapeworm" RELATED [MESH:D002590]
synonym: "infections, cestode" RELATED [MESH:D002590]
synonym: "infections, tapeworm" RELATED [MESH:D002590]
synonym: "Raillietiniases" RELATED [MESH:D002590]
synonym: "Raillietiniasis" RELATED [MESH:D002590]
synonym: "tapeworm infection" RELATED [MESH:D002590]
synonym: "tapeworm infections" RELATED [MESH:D002590]
xref: EFO:1001287 {source="MONDO:equivalentTo"}
xref: ICD9:123.8 {source="linkedlifedata"}
xref: ICD9:123.9 {source="linkedlifedata"}
xref: MESH:D002590 {source="MONDO:equivalentTo"}
xref: SCTID:86133004 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="MESH:D002590", source="linkedlifedata"} ! helminthiasis
property_value: exactMatch http://identifiers.org/mesh/D002590
property_value: exactMatch http://identifiers.org/snomedct/86133004

[Term]
id: MONDO:0042489
name: disease susceptibility
def: "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." [MESH:D004198]
subset: predisposition
synonym: "diatheses" RELATED [MESH:D004198]
synonym: "diathesis" RELATED [MESH:D004198]
synonym: "disease susceptibilities" RELATED [MESH:D004198]
synonym: "susceptibilities, disease" RELATED [MESH:D004198]
synonym: "susceptibility, disease" RELATED [MESH:D004198]
xref: MESH:D004198 {source="MONDO:equivalentTo"}
property_value: exactMatch http://identifiers.org/mesh/D004198

[Term]
id: MONDO:0042490
name: neutropenia, severe congenital, 1, autosomal dominant
synonym: "neutropenia, severe congenital, 1, autosomal dominant" EXACT [MESH:C565969]
synonym: "neutropenia, severe congenital, 1, autosomal dominant; SCN1" RELATED [OMIM:202700]
synonym: "SCN1" RELATED [MESH:C565969, OMIM:202700]
xref: MESH:C565969 {source="MONDO:equivalentTo"}
xref: OMIM:202700 {source="MONDO:equivalentTo", source="MEDIC:C565969"}
is_a: MONDO:0008742 ! autosomal dominant severe congenital neutropenia
property_value: exactMatch http://identifiers.org/mesh/C565969
property_value: exactMatch http://identifiers.org/omim/202700

[Term]
id: MONDO:0042491
name: cervical squamous intraepithelial neoplasia
def: "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures." [NCIT:C7346]
synonym: "cervical sil" EXACT [NCIT:C7346]
synonym: "cervical squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "cervical squamous intraepithelial neoplasia" EXACT [NCIT:C7346]
synonym: "cervix squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "cervix uteri sil" EXACT [NCIT:C7346]
synonym: "cervix uteri squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "CIN" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of cervix uteri" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the cervix uteri" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the uterine cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of uterine cervix" EXACT [NCIT:C7346]
synonym: "uterine cervix sil" EXACT [NCIT:C7346]
synonym: "uterine cervix squamous intraepithelial lesion" EXACT [NCIT:C7346]
xref: MESH:D065310 {source="MONDO:equivalentTo"}
xref: NCIT:C7346 {source="MONDO:equivalentTo"}
is_a: MONDO:0021230 ! uterine cervix neoplasm
is_a: MONDO:0024475 {source="MONDO:Redundant", source="MONDOLEX:0042491", source="NCIT:C7346"} ! squamous cell intraepithelial neoplasia
relationship: excluded_subClassOf MONDO:0006736 {source="MESH:D065310"} ! dysplasia of cervix
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332922
property_value: exactMatch http://identifiers.org/mesh/D065310
property_value: exactMatch NCIT:C7346

[Term]
id: MONDO:0042493
name: gastric non-hodgkin lymphoma
def: "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C27235]
subset: gard_rare
synonym: "gastric non-Hodgkin lymphoma" EXACT [NCIT:C27235]
synonym: "gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235]
synonym: "lymphoma, gastric non Hodgkins type" RELATED [GARD:0000089]
synonym: "non-Hodgkin lymphoma of stomach" EXACT [MONDO:design_pattern]
synonym: "non-Hodgkin's lymphoma of stomach" EXACT [NCIT:C27235]
synonym: "non-Hodgkin's lymphoma of the stomach" EXACT [NCIT:C27235]
synonym: "non-Hodgkins gastric lymphoma" RELATED [GARD:0000089]
synonym: "primary gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235]
synonym: "stomach lymphoma, non-Hodgkins type" RELATED [GARD:0000089]
synonym: "stomach non-Hodgkin lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:0000089 {source="MONDO:equivalentTo"}
xref: NCIT:C27235 {source="MONDO:equivalentTo"}
xref: SCTID:448709005 {source="MONDO:equivalentTo"}
xref: UMLS:C1333784 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000089", source="NCIT:C27235", source="MONDO:equivalentTo"}
is_a: MONDO:0001059 {source="MONDO:Redundant", source="NCIT:C27235", source="linkedlifedata"} ! gastric lymphoma
is_a: MONDO:0018908 ! non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/snomedct/448709005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333784
property_value: exactMatch NCIT:C27235

[Term]
id: MONDO:0042494
name: childhood malignant melanoma
def: "A melanoma that occurs during childhood." [NCIT:C131506]
subset: gard_rare
synonym: "childhood melanoma" EXACT [NCIT:C131506]
synonym: "childhood melanoma (disease)" EXACT []
synonym: "malignant melanoma, childhood" RELATED [GARD:0000091]
synonym: "melanoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "pediatric melanoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric melanoma (disease)" RELATED [MONDO:patterns/childhood]
xref: GARD:0000091 {source="MONDO:equivalentTo"}
xref: NCIT:C131506 {source="MONDO:equivalentTo"}
xref: UMLS:C4329660 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005105 {source="MONDO:Redundant", source="NCIT:C131506"} ! melanoma (disease)
is_a: MONDO:0006517 {source="NCIT:C131506"} ! childhood malignant neoplasm
is_a: MONDO:0021069 ! malignant endocrine neoplasm
relationship: has_modifier MONDO:0021136 {source="MONDO:0036491"} ! rare
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329660
property_value: exactMatch NCIT:C131506

[Term]
id: MONDO:0042495
name: arteriosclerotic retinopathy
def: "A arteriosclerosis disorder that involves the retina." [MONDO:patterns/location]
subset: gard_rare
synonym: "arteriosclerosis disorder of retina" EXACT [MONDO:design_pattern]
synonym: "arteriosclerosis, retina" RELATED [GARD:0000113]
synonym: "arteriosclerotic retinopathy" EXACT []
synonym: "retina arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "retinal arteriosclerosis" RELATED []
synonym: "retinopathy, arteriosclerotic" RELATED [GARD:0000113]
xref: GARD:0000113 {source="MONDO:equivalentTo"}
xref: ICD9:440.8 {source="linkedlifedata"}
xref: SCTID:95691008 {source="MONDO:equivalentTo"}
xref: UMLS:C0339478 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000113", source="MONDO:equivalentTo"}
is_a: MONDO:0002277 {source="MONDO:Redundant", source="linkedlifedata"} ! arteriosclerosis disorder
is_a: MONDO:0002311 ! retinal vascular disease
property_value: exactMatch http://identifiers.org/snomedct/95691008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0339478

[Term]
id: MONDO:0042496
name: ergotism
def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881]
subset: gard_rare
synonym: "ergot poisoning" RELATED [MESH:D004881]
synonym: "ergot poisonings" RELATED [MESH:D004881]
synonym: "ergotism" EXACT [GARD:0000196]
synonym: "ergotisms" RELATED [MESH:D004881]
synonym: "fire, St. Anthonys" RELATED [MESH:D004881]
synonym: "poisoning, ergot" RELATED [MESH:D004881]
synonym: "poisonings, ergot" RELATED [MESH:D004881]
synonym: "Saint Anthony fire" RELATED [MESH:D004881]
synonym: "Saint Anthony's fire" RELATED [MESH:D004881]
synonym: "Saint Anthonys fire" RELATED [MESH:D004881]
synonym: "St Anthony's fire" RELATED [GARD:0000196]
synonym: "St. Anthony fire" RELATED [MESH:D004881]
synonym: "St. Anthony's fire" RELATED [MESH:D004881]
synonym: "St. Anthonys fire" RELATED [MESH:D004881]
xref: GARD:0000196 {source="MONDO:equivalentTo"}
xref: ICD9:988.2 {source="linkedlifedata"}
xref: MESH:D004881 {source="MONDO:equivalentTo"}
xref: SCTID:51510002 {source="MONDO:equivalentTo"}
is_a: MONDO:0042497 {source="MESH:D004881", source="linkedlifedata", source="linkedlifedata/inferred"} ! mycotoxicosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014714
property_value: exactMatch http://identifiers.org/mesh/D004881
property_value: exactMatch http://identifiers.org/snomedct/51510002

[Term]
id: MONDO:0042497
name: mycotoxicosis
def: "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." [MESH:D015651]
synonym: "Fungi caused poisoning" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi poisoning" EXACT []
synonym: "fungus poisoning" RELATED [MESH:D015651]
synonym: "fungus Poisonings" RELATED [MESH:D015651]
synonym: "Mycotoxicoses" RELATED [MESH:D015651]
synonym: "poisoning, fungus" RELATED [MESH:D015651]
synonym: "Poisonings, fungus" RELATED [MESH:D015651]
xref: MESH:D015651 {source="MONDO:equivalentTo"}
xref: SCTID:26033009 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D015651", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning
property_value: exactMatch http://identifiers.org/mesh/D015651
property_value: exactMatch http://identifiers.org/snomedct/26033009

[Term]
id: MONDO:0042498
name: Ruzicka-Goerz-Anton syndrome
subset: gard_rare
synonym: "ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma" RELATED [GARD:0000210]
synonym: "ichthyosis deafness mental retardation skeletal anomalies" RELATED [GARD:0000210, MESH:C537192]
synonym: "Ruzicka Goerz Anton syndrome" RELATED [GARD:0000210]
xref: GARD:0000210 {source="MONDO:equivalentTo"}
xref: MESH:C537192 {source="MONDO:equivalentTo"}
xref: UMLS:C2931438 {source="GARD:0000210", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0019269 {source="MESH:C537192"} ! ichthyosis (disease)
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537192"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537192
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931438

[Term]
id: MONDO:0042499
name: benign familial neonatal-infantile seizures 1
synonym: "benign familial infantile convulsions syndrome" RELATED [GARD:0000856]
synonym: "benign familial infantile convulsions syndrome 1" RELATED []
synonym: "benign infantile familial convulsions" RELATED [GARD:0000856]
synonym: "benign infantile familial convulsions 1" RELATED []
synonym: "BFIC1" RELATED [GARD:0000856]
synonym: "BFIS1" RELATED [GARD:0000856, OMIM:601764]
synonym: "convulsions, benign familial infantile, 1" RELATED [OMIM:601764]
synonym: "seizures, benign familial infantile, 1" RELATED [GARD:0000856]
synonym: "seizures, benign familial infantile, 1; BFIS1" RELATED [OMIM:601764]
xref: GARD:0000856 {source="MONDO:equivalentTo"}
xref: OMIM:601764 {source="MONDO:equivalentTo", source="GARD:0000856"}
is_a: MONDO:0011140 {source="MONDOLEX:0042499"} ! benign familial neonatal-infantile seizures
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866328
property_value: exactMatch http://identifiers.org/omim/601764

[Term]
id: MONDO:0042600
name: Sammartino-Decreccio syndrome
subset: gard_rare
synonym: "Sammartino Decreccio syndrome" RELATED [GARD:0000150]
synonym: "superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality" RELATED [GARD:0000150]
xref: GARD:0000150 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042600"} ! syndromic disease

[Term]
id: MONDO:0042601
name: Samson-Gardner syndrome
subset: gard_rare
synonym: "craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" RELATED [GARD:0000151]
synonym: "Samson Gardner syndrome" RELATED [GARD:0000151]
xref: GARD:0000151 {source="MONDO:equivalentTo"}
xref: MESH:C537230 {source="MONDO:equivalentTo"}
xref: UMLS:C2931448 {source="MONDO:equivalentTo", source="GARD:0000151"}
is_a: MONDO:0002254 {source="MONDOLEX:0042601"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537230
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931448

[Term]
id: MONDO:0042602
name: Samson-Viljoen syndrome
subset: gard_rare
synonym: "lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia" RELATED [GARD:0000152]
synonym: "Samson Viljoen syndrome" RELATED [GARD:0000152]
xref: GARD:0000152 {source="MONDO:equivalentTo"}
xref: MESH:C537231 {source="MONDO:equivalentTo"}
xref: UMLS:C2931449 {source="MONDO:equivalentTo", source="GARD:0000152"}
is_a: MONDO:0002254 {source="MONDOLEX:0042602"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537231
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931449

[Term]
id: MONDO:0042603
name: Sanderson-Fraser syndrome
subset: gard_rare
synonym: "proptosis, Robin association, clenched hands, and multiple abnormalities" RELATED [GARD:0000153]
synonym: "Sanderson Fraser syndrome" RELATED [GARD:0000153]
xref: GARD:0000153 {source="MONDO:equivalentTo"}
xref: MESH:C537232 {source="MONDO:equivalentTo"}
xref: UMLS:C2931450 {source="GARD:0000153", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042603"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537232
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931450

[Term]
id: MONDO:0042604
name: Sandhaus-Ben-Ami syndrome
subset: gard_rare
synonym: "patella hypoplasia skeletal malformations" RELATED [GARD:0000154]
synonym: "Sandhaus Ben-Ami syndrome" RELATED [GARD:0000154]
xref: GARD:0000154 {source="MONDO:equivalentTo"}
xref: MESH:C537233 {source="MONDO:equivalentTo"}
xref: UMLS:C2931451 {source="GARD:0000154", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042604"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537233
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931451

[Term]
id: MONDO:0042605
name: Y chromosome infertility due to DAZ1 deletion
subset: gard_rare
synonym: "DAZ" RELATED [GARD:0000185]
synonym: "deleted in azoospermia" RELATED [GARD:0000185]
synonym: "male sterility due to Y-chromosome deletions" RELATED [GARD:0000185]
synonym: "Y chromosome infertility" RELATED [GARD:0000185]
synonym: "Y chromosome microdeletions" RELATED [GARD:0000185]
xref: GARD:0000185 {source="MONDO:equivalentTo"}
xref: HGNC:2682 {source="MONDO:otherHierarchy", source="GARD:0000185"}
is_a: MONDO:0005372 ! male infertility

[Term]
id: MONDO:0042705
name: prostatic malacoplakia associated with prostatic abscess
subset: gard_rare
synonym: "prostatic malacoplakia with prostatic and seminal vesicle abscess" RELATED [GARD:0000149]
xref: GARD:0000149 {source="MONDO:equivalentTo"}
xref: MESH:C537244 {source="MONDO:equivalentTo"}
xref: UMLS:C2931457 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000149", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537244
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931457

[Term]
id: MONDO:0042717
name: Saul-Wilkes-Stevenson syndrome
subset: gard_rare
synonym: "Saul Wilkes Stevenson syndrome" RELATED [GARD:0000161]
xref: GARD:0000161 {source="MONDO:equivalentTo"}
xref: MESH:C536617 {source="MONDO:equivalentTo"}
xref: UMLS:C2931266 {source="MONDO:equivalentTo", source="GARD:0000161"}
is_a: MONDO:0002254 {source="MONDOLEX:0042717"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536617
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931266

[Term]
id: MONDO:0042724
name: macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations
subset: gard_rare
synonym: "Volcke Soekarman syndrome" RELATED [GARD:0000172]
xref: GARD:0000172 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042724"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931595

[Term]
id: MONDO:0042726
name: macrogyria, pseudobulbar palsy and mental retardation
subset: gard_rare
synonym: "Kuzniecky Andermann syndrome" RELATED [GARD:0000174]
xref: GARD:0000174 {source="MONDO:equivalentTo"}
xref: MESH:C537722 {source="MONDO:equivalentTo"}
xref: UMLS:C2931598 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000174"}
is_a: MONDO:0002254 {source="MONDOLEX:0042726"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537722
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931598

[Term]
id: MONDO:0042727
name: sacrococcygeal teratoma
def: "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." [NCIT:C99055]
subset: gard_rare
synonym: "pre-sacral teratoma" EXACT [NCIT:C99055]
synonym: "presacral teratoma" EXACT [NCIT:C99055]
synonym: "sacrococcygeal teratoma" EXACT [NCIT:C99055]
xref: GARD:0000319 {source="MONDO:equivalentTo"}
xref: HP:0030736 {source="MONDO:otherHierarchy"}
xref: NCIT:C99055 {source="MONDO:equivalentTo"}
xref: Orphanet:494421 {source="MONDO:equivalentTo"}
xref: SCTID:281561000 {source="MONDO:equivalentTo", source="UMLS:C0559459"}
xref: UMLS:C0559459 {source="MONDO:equivalentTo", source="NCIT:C99055", source="GARD:0000319"}
is_a: MONDO:0000812 ! vertebral column disease
is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C99055", source="linkedlifedata"} ! teratoma
property_value: exactMatch http://identifiers.org/snomedct/281561000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0559459
property_value: exactMatch NCIT:C99055
property_value: exactMatch Orphanet:494421

[Term]
id: MONDO:0042902
name: Say-Carpenter syndrome
subset: gard_rare
synonym: "metaphyseal dysplasia hypertelorism hypospadias" RELATED [GARD:0000240]
synonym: "Say Carpenter syndrome" RELATED [GARD:0000240]
xref: GARD:0000240 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042902"} ! syndromic disease

[Term]
id: MONDO:0042908
name: Schaap-Taylor-Baraitser syndrome
subset: gard_rare
synonym: "cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" RELATED [GARD:0000248]
synonym: "Schaap Taylor Baraitser syndrome" RELATED [GARD:0000248]
xref: GARD:0000248 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042908"} ! syndromic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931269

[Term]
id: MONDO:0042911
name: Schwartz-Cohen-addad-Lambert syndrome
subset: gard_rare
synonym: "congenital melanocytosis with myelomeningocele and hydrocephalus" RELATED [GARD:0000253]
synonym: "Schwartz Cohen-Addad Lambert syndrome" RELATED [GARD:0000253]
xref: GARD:0000253 {source="MONDO:equivalentTo"}
xref: MESH:C535835 {source="MONDO:equivalentTo"}
xref: UMLS:C2931036 {source="GARD:0000253", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042911"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535835
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931036

[Term]
id: MONDO:0042912
name: Schlegelberger-Grote syndrome
subset: gard_rare
synonym: "Schlegelberger Grote syndrome" RELATED [GARD:0000255]
synonym: "syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" RELATED [GARD:0000255]
synonym: "triphalangeal thumbs thrombocytopathy deafness" RELATED [GARD:0000255]
xref: GARD:0000255 {source="MONDO:equivalentTo"}
xref: MESH:C536635 {source="MONDO:equivalentTo"}
xref: UMLS:C2931273 {source="GARD:0000255", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042912"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536635
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931273

[Term]
id: MONDO:0042913
name: Schrander-stumpel-Theunissen-Hulsmans syndrome
subset: gard_rare
synonym: "Schrander-Stumpel Theunissen Hulsmans syndrome" RELATED [GARD:0000256]
synonym: "vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" RELATED [GARD:0000256]
synonym: "vitiligo, psychomotor retardation, cleft palate and facial dysmorphism" RELATED [GARD:0000256]
xref: GARD:0000256 {source="MONDO:equivalentTo"}
xref: MESH:C536639 {source="MONDO:equivalentTo"}
xref: UMLS:C2931275 {source="GARD:0000256", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042913"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536639
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931275

[Term]
id: MONDO:0042915
name: Schmitt-Gillenwater-Kelly syndrome
subset: gard_rare
synonym: "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" RELATED [GARD:0000258]
synonym: "Schmitt Gillenwater Kelly syndrome" RELATED [GARD:0000258]
xref: GARD:0000258 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042915"} ! syndromic disease

[Term]
id: MONDO:0042924
name: Vagneur-Triolle-Ripert syndrome
subset: gard_rare
synonym: "hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age" RELATED [GARD:0000271]
synonym: "Vagneur Triolle Ripert syndrome" RELATED [GARD:0000271]
xref: GARD:0000271 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042924"} ! syndromic disease

[Term]
id: MONDO:0042956
name: Saal-Bulas syndrome
subset: gard_rare
synonym: "ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" RELATED [GARD:0000311]
synonym: "Saal Bulas syndrome" RELATED [GARD:0000311]
xref: GARD:0000311 {source="MONDO:equivalentTo"}
xref: MESH:C537193 {source="MONDO:equivalentTo"}
xref: UMLS:C2931439 {source="GARD:0000311", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0042956"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931439

[Term]
id: MONDO:0042960
name: Sackey-Sakati-Aur syndrome
subset: gard_rare
synonym: "Aur syndrome" RELATED [GARD:0000315]
synonym: "multiple dysmorphic features and pancytopenia" RELATED [GARD:0000315]
synonym: "pancytopenia multiple congenital anomalies" RELATED [GARD:0000315]
synonym: "Sackey Sakati Aur syndrome" RELATED [GARD:0000315]
xref: GARD:0000315 {source="MONDO:equivalentTo"}
xref: MESH:C537219 {source="MONDO:equivalentTo"}
xref: UMLS:C2931442 {source="MONDO:equivalentTo", source="GARD:0000315"}
is_a: MONDO:0002254 {source="MONDOLEX:0042960"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537219
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931442

[Term]
id: MONDO:0042961
name: sacral hemangiomas multiple congenital abnormalities
subset: gard_rare
xref: GARD:0000317 {source="MONDO:equivalentTo"}
xref: MESH:C537222 {source="MONDO:equivalentTo"}
xref: UMLS:C2931443 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000317"}
is_a: MONDO:0016063 {source="MESH:C537222"} ! Cowden disease
property_value: exactMatch http://identifiers.org/mesh/C537222
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931443

[Term]
id: MONDO:0042962
name: Slti-Salem syndrome
subset: gard_rare
synonym: "hypogonadism and frontoparietal alopecia" RELATED [GARD:0000324, MESH:C536673]
synonym: "hypogonadotropic hypogonadism alopecia" RELATED [GARD:0000324, MESH:C536673]
synonym: "Slti Salem syndrome" RELATED [GARD:0000324]
xref: GARD:0000324 {source="MONDO:equivalentTo"}
xref: MEDGEN:419036 {source="UMLS:C2931284"}
xref: MESH:C536673 {source="UMLS:C2931284", source="MONDO:equivalentTo"}
xref: UMLS:C2931284 {source="MONDO:equivalentTo", source="GARD:0000324"}
is_a: MONDO:0002146 {source="MESH:C536673"} ! hypogonadism
is_a: MONDO:0002254 {source="MONDOLEX:0042962"} ! syndromic disease
is_a: MONDO:0004907 {source="MESH:C536673"} ! alopecia
property_value: closeMatch http://identifiers.org/medgen/419036
property_value: exactMatch http://identifiers.org/mesh/C536673
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931284

[Term]
id: MONDO:0042963
name: wandering spleen
def: "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly." [NCIT:C85224]
synonym: "displaced spleen" RELATED [MESH:D050805]
synonym: "displaced spleens" RELATED [MESH:D050805]
synonym: "drifting spleen" RELATED [MESH:D050805]
synonym: "drifting spleens" RELATED [MESH:D050805]
synonym: "floating spleen" RELATED [MESH:D050805]
synonym: "floating spleens" RELATED [MESH:D050805]
synonym: "Ptoses, splenic" RELATED [MESH:D050805]
synonym: "ptosis, splenic" RELATED [MESH:D050805]
synonym: "spleen, displaced" RELATED [MESH:D050805]
synonym: "spleen, drifting" RELATED [MESH:D050805]
synonym: "spleen, floating" RELATED [MESH:D050805]
synonym: "spleen, wandering" RELATED [MESH:D050805]
synonym: "spleens, displaced" RELATED [MESH:D050805]
synonym: "spleens, drifting" RELATED [MESH:D050805]
synonym: "spleens, floating" RELATED [MESH:D050805]
synonym: "spleens, wandering" RELATED [MESH:D050805]
synonym: "splenic Ptoses" RELATED [MESH:D050805]
synonym: "splenic ptosis" RELATED [MESH:D050805]
synonym: "Splenoptoses" RELATED [MESH:D050805]
synonym: "splenoptosis" RELATED [MESH:D050805]
synonym: "wandering spleen" EXACT [NCIT:C85224]
synonym: "wandering spleens" RELATED [MESH:D050805]
xref: GARD:0000328 {source="MONDO:equivalentTo"}
xref: MEDGEN:75782
xref: MESH:D050805 {source="MONDO:equivalentTo"}
xref: NCIT:C85224 {source="MONDO:equivalentTo"}
xref: SCTID:191384005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272414 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000328", source="NCIT:C85224"}
is_a: MONDO:0002332 {source="MESH:D050805", source="linkedlifedata"} ! splenic disease
property_value: exactMatch http://identifiers.org/mesh/D050805
property_value: exactMatch http://identifiers.org/snomedct/191384005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272414
property_value: exactMatch NCIT:C85224

[Term]
id: MONDO:0042964
name: Machado-Joseph disease type 4
def: "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment." [https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease]
synonym: "azorean disease, type iv" EXACT []
xref: ICD9:334.3 {source="linkedlifedata"}
xref: SCTID:91956006 {source="MONDO:equivalentTo"}
xref: UMLS:C0686352 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007182 {source="https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease", source="linkedlifedata"} ! Machado-Joseph disease
property_value: exactMatch http://identifiers.org/snomedct/91956006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0686352

[Term]
id: MONDO:0042965
name: Machado-Joseph disease type 5
def: "A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia." [https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease]
synonym: "azorean disease, type V" EXACT []
xref: ICD9:334.3
is_a: MONDO:0007182 {source="https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease"} ! Machado-Joseph disease
relationship: disease_shares_features_of MONDO:0019064 ! hereditary spastic paraplegia

[Term]
id: MONDO:0042966
name: inherited mitral valve disease
def: "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital anomaly of mitral valve" EXACT []
synonym: "congenital malformation of mitral valve" RELATED []
synonym: "congenital mitral valve abnormality" RELATED []
synonym: "hereditary mitral valve disease" EXACT [MONDO:patterns/hereditary]
xref: SCTID:75372006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003767 {source="MONDO:Redundant", source="linkedlifedata"} ! mitral valve disease
is_a: MONDO:0003847 ! Mendelian disease
intersection_of: MONDO:0003767 ! mitral valve disease
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/75372006

[Term]
id: MONDO:0042967
name: rheumatic disease of mitral valve
def: "A rheumatologic disorder that involves the mitral valve." [MONDO:patterns/location]
synonym: "mitral valve rheumatologic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rheumatic disease of mitral valve" EXACT []
synonym: "rheumatic mitral valve changes" RELATED []
synonym: "rheumatic mitral valve disease" RELATED []
synonym: "rheumatologic disorder of mitral valve" EXACT [MONDO:design_pattern]
xref: SCTID:83898004 {source="MONDO:equivalentTo"}
xref: UMLS:C0264765 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003767 {source="MONDO:Redundant", source="linkedlifedata"} ! mitral valve disease
is_a: MONDO:0005554 ! rheumatologic disorder
property_value: exactMatch http://identifiers.org/snomedct/83898004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0264765

[Term]
id: MONDO:0042968
name: partial duplication of chromosome 12
is_a: MONDO:0020052 ! partial autosomal trisomy/tetrasomy

[Term]
id: MONDO:0042969
name: partial duplication of the long arm of chromosome 12
def: "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001926]
subset: gard_rare
synonym: "12q duplication" RELATED [GARD:0001926]
synonym: "12q trisomy" RELATED [GARD:0001926]
synonym: "chromosome 12q duplication" RELATED [GARD:0001926]
synonym: "Duplication 12q" RELATED [GARD:0001926]
synonym: "partial trisomy 12q" RELATED [GARD:0001926]
synonym: "trisomy 12q" RELATED [GARD:0001926]
xref: GARD:0001926 {source="MONDO:equivalentTo"}
xref: MESH:C538300 {source="MONDO:equivalentTo"}
xref: UMLS:C0795846 {source="MONDO:equivalentTo", source="GARD:0001926"}
is_a: MONDO:0042968 ! partial duplication of chromosome 12
property_value: exactMatch http://identifiers.org/mesh/C538300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0795846

[Term]
id: MONDO:0042970
name: disorder of glutamate decarboxylase
def: "A disease that has its basis in the disruption of glutamate decarboxylase activity." [MONDO:design_pattern]
subset: gard_rare
synonym: "deficiency of glutamate decarboxylase" EXACT [GTR:AN0168165]
synonym: "disorder of glutamate decarboxylase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glutamate decarboxylase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "glutamate decarboxylase activity disease" EXACT [MONDO:design_pattern]
synonym: "glutamate decarboxylase deficiency" RELATED [GTR:AN0264281]
xref: GARD:0002505 {source="MONDO:equivalentTo"}
xref: GTR:AN0168165 {source="UMLS:C1291560"}
xref: GTR:AN0264281 {source="UMLS:C1291560"}
xref: ICD9:277.6 {source="linkedlifedata"}
xref: MEDGEN:452941 {source="UMLS:C1291560"}
xref: SCTID:124596009 {source="MONDO:equivalentTo", source="UMLS:C1291560"}
xref: UMLS:C1291560 {source="MONDO:equivalentTo", source="GARD:0002505"}
is_a: MONDO:0044976 ! disease of catalytic activity
property_value: closeMatch http://identifiers.org/medgen/452941
property_value: exactMatch http://identifiers.org/snomedct/124596009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291560

[Term]
id: MONDO:0042971
name: congenital herpes virus infection
def: "An infectious embryofetopathy caused by infection with Herpesviridae." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare
synonym: "congenital herpes virus infection" EXACT []
synonym: "congenital infection caused by herpes virus" EXACT []
synonym: "Herpesviridae caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae infectious embryofetopathy" EXACT []
xref: GARD:0002669 {source="MONDO:equivalentTo"}
xref: GARD:0002670 {source="MONDO:equivalentTo"}
xref: SCTID:715337002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275250 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005794 ! Herpesviridae infectious disease
is_a: MONDO:0016511 ! infectious embryofetopathy
property_value: exactMatch http://identifiers.org/snomedct/715337002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275250

[Term]
id: MONDO:0042972
name: meningococcemia
subset: gard_rare
synonym: "meningococcal septicemia" RELATED []
synonym: "meningococcemia" EXACT []
xref: GARD:0003472 {source="MONDO:equivalentTo"}
xref: ICD9:036.2 {source="linkedlifedata"}
xref: MEDGEN:6300 {source="UMLS:C0025306"}
xref: SCTID:4089001 {source="MONDO:equivalentTo", source="UMLS:C0025306"}
xref: UMLS:C0025306 {source="MONDO:equivalentTo", source="GARD:0003472"}
is_a: MONDO:0005229 ! bacterial infectious disease with sepsis
is_a: MONDO:0005373 ! meningococcal infection
property_value: closeMatch http://identifiers.org/medgen/6300
property_value: exactMatch http://identifiers.org/snomedct/4089001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025306

[Term]
id: MONDO:0042973
name: familial osteosclerosis
def: "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare
synonym: "hereditary osteosclerosis" EXACT [MONDO:patterns/hereditary]
xref: GARD:0004174 {source="MONDO:equivalentTo"}
is_a: MONDO:0002933 ! osteosclerosis
is_a: MONDO:0023603 ! hereditary connective tissue disorder
intersection_of: MONDO:0002933 ! osteosclerosis
intersection_of: has_modifier MONDO:0021152 ! inherited

[Term]
id: MONDO:0042974
name: parainfluenza virus type 3 infectious disease
def: "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis , bronchitis , and pneumonia . Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." [GARD:0004215]
subset: gard_rare
synonym: "Human parainfluenza virus type 3" RELATED [GARD:0004215]
synonym: "Human respirovirus 3 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human respirovirus 3 disease or disorder" EXACT []
synonym: "Human respirovirus 3 infectious disease" EXACT []
synonym: "infection caused by human parainfluenza virus 3" RELATED []
synonym: "infection caused by parainfluenza virus 3" RELATED []
synonym: "infection due to human parainfluenza virus 3" EXACT []
synonym: "infection due to parainfluenza virus 3" RELATED []
synonym: "PIV3" RELATED [GARD:0004215]
xref: GARD:0004215 {source="MONDO:equivalentTo"}
xref: ICD9:079.89 {source="linkedlifedata"}
xref: SCTID:30270006 {source="MONDO:equivalentTo"}
xref: UMLS:C0276324 {source="MONDO:equivalentTo"}
is_a: MONDO:0005940 ! respirovirus infectious disease
property_value: exactMatch http://identifiers.org/snomedct/30270006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276324

[Term]
id: MONDO:0042975
name: pseudoachondroplastic dysplasia 2
subset: gard_rare
synonym: "pseudoachondroplastic dysplasia 2" EXACT [MSH:C535820]
synonym: "recessive pseudoachondroplasia" RELATED [GARD:0004542, MESH:C535820, MSH:C535820]
synonym: "spondyloepiphyseal dysplasia pseudoachondroplastic 2" RELATED [GARD:0004542, MESH:C535820, MSH:C535820]
xref: GARD:0004542 {source="MONDO:equivalentTo"}
xref: MEDGEN:418965 {source="UMLS:C2931030"}
xref: MESH:C535820 {source="MONDO:equivalentTo", source="UMLS:C2931030"}
xref: UMLS:C2931030 {source="GARD:0004542", source="MONDO:equivalentTo"}
is_a: MONDO:0007037 {source="MESH:C535820"} ! achondroplasia
property_value: closeMatch http://identifiers.org/medgen/418965
property_value: closeMatch http://identifiers.org/omim/264150
property_value: exactMatch http://identifiers.org/mesh/C535820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931030

[Term]
id: MONDO:0042976
name: vitamin B deficiency
def: "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." [MESH:D014804]
synonym: "deficiencies, vitamin B" RELATED [MESH:D014804]
synonym: "deficiency, vitamin B" RELATED [MESH:D014804]
synonym: "vitamin B deficiencies" RELATED [MESH:D014804]
xref: MESH:D014804 {source="MONDO:equivalentTo"}
xref: NCIT:C35129 {source="MONDO:equivalentTo"}
xref: SCTID:47903000 {source="MONDO:equivalentTo"}
xref: UMLS:C0042850 {source="MONDO:equivalentTo"}
is_a: MONDO:0024298 {source="MESH:D014804", source="NCIT:C35129", source="linkedlifedata"} ! vitamin deficiency disorder
property_value: exactMatch http://identifiers.org/mesh/D014804
property_value: exactMatch http://identifiers.org/snomedct/47903000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0042850
property_value: exactMatch NCIT:C35129

[Term]
id: MONDO:0042977
name: trichoepithelioma, multiple familial, 1
subset: gard_rare
synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606]
synonym: "epithelioma adenoides cysticum of Brooke" RELATED [OMIM:601606]
synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606]
synonym: "MFT1" RELATED [GARD:0005262, OMIM:601606]
synonym: "multiple familial trichoepithelioma 1" RELATED [GARD:0005262]
synonym: "trichoepithelioma multiple familial 1" RELATED [GARD:0005262]
synonym: "trichoepithelioma, multiple familial, 1" EXACT [OMIM:601606]
xref: GARD:0005262 {source="MONDO:equivalentTo"}
xref: OMIM:601606 {source="MONDO:equivalentTo", source="GARD:0005262"}
is_a: MONDO:0011114 ! familial multiple trichoepithelioma
property_value: exactMatch http://identifiers.org/omim/601606

[Term]
id: MONDO:0042979
name: hypokalemic periodic paralysis, type 1
synonym: "HOKPP1" RELATED [OMIM:170400]
synonym: "hypokalemic periodic paralysis, type 1; HOKPP1" RELATED [OMIM:170400]
xref: OMIM:170400 {source="MONDO:equivalentTo"}
xref: UMLS:C3714580 {source="OMIM:170400", source="MEDGEN:kboom-pr98-c99", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0008223 {source="MONDOLEX:0042979", source="OMIM:170400"} ! hypokalemic periodic paralysis
property_value: exactMatch http://identifiers.org/omim/170400
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3714580

[Term]
id: MONDO:0042980
name: Westphal disease
subset: gard_rare
synonym: "HD- Westphal variant" RELATED [GARD:0005557, GTR:AN0099344]
synonym: "Westphal disease" EXACT [GTR:AN0099343, MSH:C536694]
synonym: "Westphal variant of Huntington's disease" RELATED [GARD:0005557, GTR:AN0099345, MSH:C536694]
xref: GARD:0005557 {source="MONDO:equivalentTo"}
xref: GTR:AN0099343 {source="UMLS:C1279186"}
xref: GTR:AN0099344 {source="UMLS:C1279186"}
xref: GTR:AN0099345 {source="UMLS:C1279186"}
xref: MEDGEN:224821 {source="UMLS:C1279186"}
xref: MESH:C536694 {source="UMLS:C1279186", source="MONDO:equivalentTo"}
xref: SCTID:182747006 {source="UMLS:C1279186", source="MONDO:equivalentTo"}
xref: UMLS:C1279186 {source="GARD:0005557", source="MONDO:equivalentTo"}
is_a: MONDO:0000995 {source="linkedlifedata"} ! familial periodic paralysis
relationship: disease_shares_features_of MONDO:0007739 ! Huntington disease
property_value: closeMatch http://identifiers.org/medgen/224821
property_value: exactMatch http://identifiers.org/mesh/C536694
property_value: exactMatch http://identifiers.org/snomedct/182747006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1279186

[Term]
id: MONDO:0042981
name: aortic valve stenosis
subset: gard_rare
synonym: "aortic stenosis" RELATED [GARD:0005830]
synonym: "aortic valve stenosis" EXACT []
synonym: "stenosed aortic valve" RELATED []
synonym: "valvular aortic stenosis" RELATED [GARD:0005830]
xref: GARD:0005830 {source="MONDO:equivalentTo"}
xref: HP:0001650 {source="MONDO:otherHierarchy"}
xref: SCTID:60573004 {source="MONDO:equivalentTo"}
is_a: MONDO:0020286 ! aortic malformation
is_a: MONDO:0020293 ! ascending aorta anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003507
property_value: exactMatch http://identifiers.org/snomedct/60573004

[Term]
id: MONDO:0042982
name: GATA2 deficiency with susceptibility to MDS/AML
def: "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." [github:justyneross, https://github.com/monarch-initiative/mondo/issues/261, PMID:25397911, PMID:25619630, PMID:25624456, PMID:28637621]
comment: The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity
subset: gard_rare
subset: predisposition
synonym: "GATA2 deficiency" EXACT [GARD:0013373, NCIT:C126349]
synonym: "GATA2 deficiency/MonoMac syndrome" NARROW [NCIT:C126349]
xref: GARD:0013373 {source="MONDO:equivalentTo"}
xref: NCIT:C126349 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="NCIT:C126349"} ! immunodeficiency disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015984"} ! rare
property_value: exactMatch NCIT:C126349

[Term]
id: MONDO:0042983
name: neurocutaneous syndrome
def: "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." [MESH:D020752]
comment: A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category
synonym: "neurocutaneous disorder" RELATED [MESH:D020752]
synonym: "neurocutaneous disorders" RELATED [MESH:D020752]
synonym: "neurocutaneous syndrome" EXACT [MESH:D020752]
synonym: "neuroectodermal dysplasia" RELATED []
synonym: "neuroectodermal dysplasia syndrome" RELATED [MESH:D020752]
synonym: "neuroectodermal dysplasia syndromes" RELATED [MESH:D020752]
synonym: "Phacomatoses" RELATED [MESH:D020752]
synonym: "Phacomatosis" RELATED [MESH:D020752]
synonym: "Phakomatoses" RELATED [MESH:D020752]
synonym: "phakomatosis" RELATED [MESH:D020752]
synonym: "syndrome, neurocutaneous" RELATED [MESH:D020752]
synonym: "syndrome, neuroectodermal dysplasia" RELATED [MESH:D020752]
synonym: "syndromes, neurocutaneous" RELATED [MESH:D020752]
synonym: "syndromes, neuroectodermal dysplasia" RELATED [MESH:D020752]
xref: MESH:D020752 {source="MONDO:equivalentTo"}
xref: NCIT:C84348 {source="MONDO:equivalentTo"}
xref: SCTID:78572006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265316 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MESH:D020752", source="linkedlifedata/inferred"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0019287 {source="MESH:D020752"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/D020752
property_value: exactMatch http://identifiers.org/snomedct/78572006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265316
property_value: exactMatch NCIT:C84348

[Term]
id: MONDO:0043003
name: familial acanthosis nigricans
def: "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "acanthosis nigricans" RELATED [OMIM:100600]
synonym: "hereditary acanthosis nigricans (disease)" EXACT [MONDO:patterns/hereditary]
xref: MESH:C531598 {source="MONDO:equivalentTo"}
xref: OMIM:100600 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: UMLS:C2930792 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0007035 {source="MESH:C531598", source="MONDO:Redundant"} ! acanthosis nigricans (disease)
is_a: MONDO:0024255 ! genetic skin disease
intersection_of: MONDO:0007035 ! acanthosis nigricans (disease)
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/C531598
property_value: exactMatch http://identifiers.org/omim/100600
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930792

[Term]
id: MONDO:0043004
name: Weil's disease
def: "A jauncice caused by severe leptospirosis." [https://en.wikipedia.org/wiki/Leptospirosis]
synonym: "disease, Weil" RELATED [MESH:D014895]
synonym: "disease, Weil's" RELATED [MESH:D014895]
synonym: "icteric leptospirosis" RELATED []
synonym: "Icterohemorrhagic leptospirosis" RELATED [MESH:D014895]
synonym: "jaundice, spirochetal" RELATED [MESH:D014895]
synonym: "leptospirosis, icterohemorrhagic" RELATED [MESH:D014895]
synonym: "spirochetal jaundice" RELATED [MESH:D014895]
synonym: "Weil disease" RELATED []
synonym: "Weil's disease" EXACT [MESH:D014895]
synonym: "weil's disease" EXACT []
synonym: "Weils disease" RELATED [MESH:D014895]
xref: MESH:D014895 {source="MONDO:equivalentTo"}
xref: SCTID:398067003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005825 {source="MESH:D014895", source="MONDO:Redundant", source="linkedlifedata"} ! leptospirosis
property_value: exactMatch http://identifiers.org/mesh/D014895
property_value: exactMatch http://identifiers.org/snomedct/398067003

[Term]
id: MONDO:0043005
name: genetic multiple congenital anomalies/dysmorphic syndrome
def: "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:183533 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019042 ! multiple congenital anomalies/dysmorphic syndrome
intersection_of: MONDO:0019042 ! multiple congenital anomalies/dysmorphic syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: exactMatch Orphanet:183533

[Term]
id: MONDO:0043007
name: genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
def: "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "genetic MCA/variable MR" EXACT [Orphanet:330197]
synonym: "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:330197]
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:330197 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015160 ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 {source="MONDO:Redundant", source="MONDOLEX:0043007", source="Orphanet:330197"} ! genetic multiple congenital anomalies/dysmorphic syndrome
intersection_of: MONDO:0015160 ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:330197

[Term]
id: MONDO:0043008
name: genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
def: "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "genetic MCA" EXACT [Orphanet:330206]
synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206]
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:330206 {source="MONDO:equivalentTo"}
is_a: MONDO:0015161 ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0043005 {source="MONDO:Redundant", source="MONDOLEX:0043008", source="Orphanet:330206"} ! genetic multiple congenital anomalies/dysmorphic syndrome
intersection_of: MONDO:0015161 ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:330206

[Term]
id: MONDO:0043009
name: genetic lethal multiple congenital anomalies/dysmorphic syndrome
def: "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders
synonym: "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:471383 {source="MONDO:equivalentTo"}
is_a: MONDO:0018731 ! lethal multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0043005 {source="MONDO:Redundant", source="Orphanet:471383"} ! genetic multiple congenital anomalies/dysmorphic syndrome
intersection_of: MONDO:0018731 ! lethal multiple congenital anomalies/dysmorphic syndrome
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:471383

[Term]
id: MONDO:0043069
name: Zerres Rietschel Majewski syndrome
subset: gard_rare
synonym: "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation" RELATED [GARD:0000338]
xref: GARD:0000338 {source="MONDO:equivalentTo"}
xref: MESH:C536724 {source="MONDO:equivalentTo"}
xref: UMLS:C2931301 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000338"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0015514 {source="MESH:C536724"} ! genetic endocrine growth disease
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536724"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536724
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931301

[Term]
id: MONDO:0043071
name: Zazam Sheriff Phillips syndrome
subset: gard_rare
synonym: "aniridia, ectopia lentis, abnormal upper incisors and mental retardation" RELATED [GARD:0000339, MESH:C536723]
synonym: "aniridia, lens luxation, mental retardation" RELATED [MESH:C536723]
xref: GARD:0000339 {source="MONDO:equivalentTo"}
xref: MESH:C536723 {source="MONDO:equivalentTo"}
xref: UMLS:C2931300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000339"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0020148 ! syndromic aniridia
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536723"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536723
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931300

[Term]
id: MONDO:0043073
name: Zadik-Barak-Levin syndrome
subset: gard_rare
synonym: "dermoid cysts, hypothyroidism, cleft palate and hypodontia" RELATED [GARD:0000340]
synonym: "dermoid cysts, hypothyroidism, cleft palate, and hypodontia" RELATED [MESH:C536721]
xref: GARD:0000340 {source="MONDO:equivalentTo"}
xref: MESH:C536721 {source="MONDO:equivalentTo"}
xref: UMLS:C2931298 {source="GARD:0000340", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature MONDO:0002378 {source="MESH:C536721"} ! dermoid cyst
relationship: disease_has_feature MONDO:0005420 {source="MESH:C536721"} ! hypothyroidism
relationship: disease_has_feature MONDO:0008797 {source="MESH:C536721"} ! anodontia
relationship: disease_has_feature MONDO:0016064 {source="MESH:C536721"} ! cleft palate
property_value: exactMatch http://identifiers.org/mesh/C536721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931298

[Term]
id: MONDO:0043075
name: neuroaxonal dystrophy renal tubular acidosis
subset: gard_rare
synonym: "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED [GARD:0000349]
synonym: "Maccario Mena weir syndrome" RELATED [GARD:0000349, MESH:C537386]
xref: GARD:0000349 {source="MONDO:equivalentTo"}
xref: MESH:C537386 {source="MONDO:equivalentTo"}
xref: UMLS:C2931479 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000349"}
is_a: MONDO:0001909 {source="MESH:C537386", source="MONDOLEX:0043075"} ! renal tubular acidosis
is_a: MONDO:0002283 {source="MESH:C537386"} ! neuroaxonal dystrophy
property_value: exactMatch http://identifiers.org/mesh/C537386
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931479

[Term]
id: MONDO:0043077
name: weinstein kliman scully syndrome
subset: gard_rare
synonym: "cardiomyopathy, hypogonadism and metabolic anomalies" RELATED [MESH:C536688]
synonym: "primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities" RELATED [GARD:0000392]
xref: GARD:0000392 {source="MONDO:equivalentTo"}
xref: MESH:C536688 {source="MONDO:equivalentTo"}
xref: UMLS:C2931289 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0000392"}
is_a: MONDO:0002146 {source="MESH:C536688"} ! hypogonadism
is_a: MONDO:0002254 {source="MONDOLEX:0043077"} ! syndromic disease
is_a: MONDO:0019052 {source="MESH:C536688"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/mesh/C536688
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931289

[Term]
id: MONDO:0043079
name: acute articular rheumatism
subset: gard_rare
synonym: "acute articular rheumatism" EXACT []
synonym: "acute rheumatic arthritis" EXACT []
synonym: "acute rheumatism" RELATED [GARD:0000518]
xref: GARD:0000518 {source="MONDO:equivalentTo"}
xref: SCTID:81077008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005578 {source="MONDOLEX:0043079", source="linkedlifedata/inferred"} ! arthritis
property_value: exactMatch http://identifiers.org/snomedct/81077008

[Term]
id: MONDO:0043083
name: coronal synostosis, syndactyly and jejunal atresia
subset: gard_rare
synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia" RELATED [GARD:0001532]
xref: GARD:0001532 {source="MONDO:equivalentTo"}
xref: MESH:C536445 {source="MONDO:equivalentTo"}
xref: UMLS:C2931194 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001411 {source="MESH:C536445"} ! synostosis
property_value: exactMatch http://identifiers.org/mesh/C536445
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931194

[Term]
id: MONDO:0043085
name: chromosome 1, uniparental disomy 1q12 q21
subset: gard_rare
synonym: "Mosaic trisomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085]
synonym: "uniparental disomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085]
xref: GARD:0001878 {source="MONDO:equivalentTo"}
xref: MESH:C538085 {source="MONDO:equivalentTo"}
xref: UMLS:CN035970 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931726
property_value: exactMatch http://identifiers.org/mesh/C538085
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035970

[Term]
id: MONDO:0043087
name: thickened earlobes with conductive deafness from incus-stapes abnormalities
subset: gard_rare
synonym: "conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" RELATED [GARD:0002034, MESH:C536511]
synonym: "Schweitzer Kemink Graham syndrome" RELATED [GARD:0002034]
synonym: "thickened earlobes with conductive deafness from incus-stapes abnormalities" EXACT [MESH:C536511]
xref: GARD:0002034 {source="MONDO:equivalentTo"}
xref: MESH:C536511 {source="MONDO:equivalentTo"}
xref: UMLS:C2931222 {source="GARD:0002034", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043087"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536511
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931222

[Term]
id: MONDO:0043089
name: acute posterior multifocal placoid pigment epitheliopathy
def: "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina , retinal pigment epithelium (pigmented layer of the retina), and choroid . It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." [GARD:0002183]
subset: gard_rare
synonym: "acute multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "acute placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "acute posterior multifocal placoid pigment epitheliopathy" EXACT []
synonym: "AMPPE" RELATED [GARD:0002183]
synonym: "amppe - acute multifocal placoid pigment epitheliopathy" RELATED []
synonym: "APMPPE" RELATED [GARD:0002183]
synonym: "apmppe" RELATED []
synonym: "epitheliopathy, acute posterior multifocal placoid pigment" RELATED [GARD:0002183]
synonym: "multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "pigment epitheliopathy, disseminated retinitis and retinochoroiditis" RELATED []
xref: GARD:0002183 {source="MONDO:equivalentTo"}
xref: SCTID:89188001 {source="MONDO:equivalentTo"}
xref: UMLS:C0154884 {source="MONDO:equivalentTo", source="GARD:0002183"}
is_a: MONDO:0023833 {source="linkedlifedata/inferred"} ! multifocal choroiditis
property_value: exactMatch http://identifiers.org/snomedct/89188001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0154884

[Term]
id: MONDO:0043094
name: ichthyosis, follicular
subset: gard_rare
synonym: "follicular ichthyosis" EXACT [GARD:0002355]
xref: GARD:0002355 {source="MONDO:equivalentTo"}
xref: SCTID:238627002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015947 {source="linkedlifedata"} ! inherited ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0406344
property_value: exactMatch http://identifiers.org/snomedct/238627002

[Term]
id: MONDO:0043096
name: holoacardius amorphus
subset: gard_rare
synonym: "amorphous globosus" RELATED []
synonym: "amorphus globosus" RELATED []
synonym: "fetus anideus" RELATED []
synonym: "Holoacardius amorphus" EXACT []
xref: GARD:0002720 {source="MONDO:equivalentTo"}
xref: Orphanet:2161 {source="MONDO:equivalentTo"}
xref: SCTID:41049003 {source="MONDO:equivalentTo"}
is_a: MONDO:0022357 {source="linkedlifedata"} ! congenital acardia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0266719
property_value: exactMatch http://identifiers.org/snomedct/41049003
property_value: exactMatch Orphanet:2161

[Term]
id: MONDO:0043099
name: Hordnes Engebretsen Knudtson syndrome
subset: gard_rare
synonym: "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation" RELATED [GARD:0002736]
xref: GARD:0002736 {source="MONDO:equivalentTo"}
xref: MESH:C536067 {source="MONDO:equivalentTo"}
xref: UMLS:C2931100 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002736"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0006936 {source="MESH:C536067"} ! pulmonary valve stenosis
is_a: MONDO:0015338 ! syndromic craniosynostosis
is_a: MONDO:0019117 ! genetic nervous system disorder
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536067"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C536067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931100

[Term]
id: MONDO:0043101
name: hypothalamic dysfunction
def: "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland , sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." [GARD:0002932]
subset: gard_rare
synonym: "hypothalamic dysfunction" EXACT []
synonym: "hypothalamic syndrome" EXACT []
xref: GARD:0002932 {source="MONDO:equivalentTo"}
xref: SCTID:111568001 {source="MONDO:equivalentTo"}
is_a: MONDO:0002150 {source="linkedlifedata"} ! hypothalamic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751230
property_value: exactMatch http://identifiers.org/snomedct/111568001

[Term]
id: MONDO:0043103
name: hypothyroidism due to iodide transport defect
def: "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." [NCIT:C121747]
subset: gard_rare
synonym: "hypothyroidism due to iodide concentration defect" RELATED []
synonym: "hypothyroidism due to iodide transport defect" EXACT []
synonym: "iodide Transport defect" EXACT [NCIT:C121747]
synonym: "iodide transport defect" EXACT []
synonym: "iodide transport failure" RELATED []
synonym: "iodine accumulation defect" RELATED []
synonym: "iodine transport defect" RELATED []
xref: GARD:0002938 {source="MONDO:equivalentTo"}
xref: NCIT:C121747 {source="MONDO:equivalentTo"}
xref: SCTID:22558005 {source="MONDO:equivalentTo"}
xref: UMLS:C0271826 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C121747", source="MONDO:equivalentTo", source="GARD:0002938"}
is_a: MONDO:0018612 {source="NCIT:C121747", source="linkedlifedata"} ! congenital hypothyroidism
property_value: exactMatch http://identifiers.org/snomedct/22558005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271826
property_value: exactMatch NCIT:C121747

[Term]
id: MONDO:0043106
name: ichthyosis linearis circumflexa
subset: gard_rare
synonym: "ichthyosis linearis circumflexa" EXACT []
xref: GARD:0002967 {source="MONDO:equivalentTo"}
xref: SCTID:54336006 {source="MONDO:equivalentTo"}
is_a: MONDO:0017265 ! autosomal recessive congenital ichthyosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265962
property_value: exactMatch http://identifiers.org/snomedct/54336006

[Term]
id: MONDO:0043108
name: infantile striato thalamic degeneration
subset: gard_rare
xref: GARD:0003004 {source="MONDO:equivalentTo"}
xref: Orphanet:1575 {source="GARD:0003004", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: exactMatch Orphanet:1575

[Term]
id: MONDO:0043110
name: jones hersh yusk syndrome
subset: gard_rare
synonym: "aplasia cutis cleft palate epidermolysis" RELATED [GARD:0003055, MESH:C535885]
synonym: "aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" RELATED [GARD:0003055, MESH:C535885]
synonym: "ptosis, ectropion, thin skin, beaked nose" RELATED [GARD:0003055, MESH:C535885]
xref: GARD:0003055 {source="MONDO:equivalentTo"}
xref: MESH:C535885 {source="MONDO:equivalentTo"}
xref: UMLS:C2931054 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003055"}
is_a: MONDO:0019287 {source="MESH:C535885"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/mesh/C535885
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931054

[Term]
id: MONDO:0043112
name: lachiewicz sibley syndrome
subset: gard_rare
synonym: "hereditary renal disease and preauricular pits" RELATED [GARD:0003157, MESH:C538131]
xref: GARD:0003157 {source="MONDO:equivalentTo"}
xref: MESH:C538131 {source="MONDO:equivalentTo"}
xref: UMLS:C2931742 {source="GARD:0003157", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="MESH:C538131"} ! kidney disease
property_value: exactMatch http://identifiers.org/mesh/C538131
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931742

[Term]
id: MONDO:0043114
name: Landy-Donnai syndrome
subset: gard_rare
synonym: "hydrops, ectrodactyly, syndactyly, duplication of the great toes" RELATED [GARD:0003172, MESH:C537266]
xref: GARD:0003172 {source="MONDO:equivalentTo"}
xref: MESH:C537266 {source="MONDO:equivalentTo"}
xref: UMLS:C2931460 {source="MONDO:equivalentTo", source="GARD:0003172"}
is_a: MONDO:0002254 {source="MONDOLEX:0043114"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537266
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931460

[Term]
id: MONDO:0043116
name: iida kannari syndrome
subset: gard_rare
synonym: "craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" RELATED [GARD:0003249, MESH:C536284]
xref: GARD:0003249 {source="MONDO:equivalentTo"}
xref: MESH:C536284 {source="MONDO:equivalentTo"}
xref: UMLS:C2931159 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003249", source="MONDO:equivalentTo"}
is_a: MONDO:0005307 {source="MESH:C536284"} ! contracture
is_a: MONDO:0005392 {source="MESH:C536284"} ! scoliosis
is_a: MONDO:0015469 {source="MESH:C536284", source="MONDOLEX:0043116"} ! craniosynostosis
is_a: MONDO:0016064 {source="MESH:C536284"} ! cleft palate
property_value: exactMatch http://identifiers.org/mesh/C536284
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931159

[Term]
id: MONDO:0043120
name: male pseudohermaphroditism due to defective lh molecule
subset: gard_rare
xref: GARD:0003356 {source="MONDO:equivalentTo"}
xref: HGNC:6584 {source="GARD:0003356"}
xref: MESH:C535692 {source="MONDO:equivalentTo"}
xref: UMLS:C1835303 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003356", source="MONDO:equivalentTo"}
is_a: MONDO:0020040 {source="MESH:C535692"} ! 46,XY disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C535692
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1835303

[Term]
id: MONDO:0043123
name: massa casaer ceulemans syndrome
subset: gard_rare
synonym: "arthrogryposis multiplex congenita associated with lissencephaly" RELATED [GARD:0003407, MESH:C536031]
xref: GARD:0003407 {source="MONDO:equivalentTo"}
xref: MESH:C536031 {source="MONDO:equivalentTo"}
xref: UMLS:C2931090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003407"}
is_a: MONDO:0008779 {source="MESH:C536031"} ! arthrogryposis
is_a: MONDO:0018838 {source="MESH:C536031"} ! lissencephaly spectrum disorders
property_value: exactMatch http://identifiers.org/mesh/C536031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931090

[Term]
id: MONDO:0043125
name: mcpherson robertson cammarano syndrome
subset: gard_rare
synonym: "dominantly inherited ptosis, strabismus and ectopic pupils" RELATED [GARD:0003431, MESH:C538161]
xref: GARD:0003431 {source="MONDO:equivalentTo"}
xref: MESH:C538161 {source="MONDO:equivalentTo"}
xref: UMLS:C2931751 {source="GARD:0003431", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000728 {source="MESH:C538161"} ! ptosis (disease)
property_value: exactMatch http://identifiers.org/mesh/C538161
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931751

[Term]
id: MONDO:0043127
name: mehta lewis patton syndrome
subset: gard_rare
synonym: "congenital heart disease, ptosis, hypodontia, and craniosynostosis" RELATED [GARD:0003450, MESH:C536147]
xref: GARD:0003450 {source="MONDO:equivalentTo"}
xref: MESH:C536147 {source="MONDO:equivalentTo"}
xref: UMLS:C2931120 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003450"}
is_a: MONDO:0000728 {source="MESH:C536147"} ! ptosis (disease)
is_a: MONDO:0005453 {source="MESH:C536147", source="MONDOLEX:0043127"} ! congenital heart disease
is_a: MONDO:0008797 {source="MESH:C536147"} ! anodontia
is_a: MONDO:0015469 {source="MESH:C536147", source="MONDOLEX:0043127"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/mesh/C536147
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931120

[Term]
id: MONDO:0043129
name: merlob grunebaum reisner syndrome
subset: gard_rare
synonym: "familial opposable triphalangeal thumbs associated with duplication of the big toes" RELATED [GARD:0003545]
xref: GARD:0003545 {source="MONDO:equivalentTo"}
xref: MESH:C537461 {source="MONDO:equivalentTo"}
xref: UMLS:C2931499 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003545", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043129"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537461
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931499

[Term]
id: MONDO:0043131
name: michels caskey syndrome
subset: gard_rare
synonym: "Mullerian aplasia with hypoplastic thumbs" RELATED [GARD:0003590, MESH:C537576]
synonym: "Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities" RELATED [GARD:0003590]
xref: GARD:0003590 {source="MONDO:equivalentTo"}
xref: MESH:C537576 {source="MONDO:equivalentTo"}
xref: UMLS:C2931537 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003590"}
is_a: MONDO:0017576 {source="MESH:C537576"} ! 46,XX disorder of sex development
property_value: exactMatch http://identifiers.org/mesh/C537576
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931537

[Term]
id: MONDO:0043133
name: microcephaly micropenis convulsions
subset: gard_rare
synonym: "microcephaly micropenis convulsions" EXACT [MESH:C537540]
synonym: "microcephaly micropenis seizures" RELATED [GARD:0003628, MESH:C537540]
synonym: "microcephaly seizures genital hypoplasia" RELATED [GARD:0003628]
xref: GARD:0003628 {source="MONDO:equivalentTo"}
xref: MESH:C537540 {source="MONDO:equivalentTo"}
xref: UMLS:C2931525 {source="MONDO:equivalentTo", source="GARD:0003628"}
is_a: MONDO:0001386 {source="MESH:C537540"} ! visual epilepsy
property_value: exactMatch http://identifiers.org/mesh/C537540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931525

[Term]
id: MONDO:0043135
name: microcephaly microphthalmos blindness
subset: gard_rare
xref: GARD:0003629 {source="MONDO:equivalentTo"}
xref: MESH:C537541 {source="MONDO:equivalentTo"}
xref: UMLS:C2931526 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003629"}
is_a: MONDO:0001941 {source="MESH:C537541"} ! blindness (disorder)
is_a: MONDO:0021129 {source="MESH:C537541"} ! microphthalmia
property_value: exactMatch http://identifiers.org/mesh/C537541
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931526

[Term]
id: MONDO:0043137
name: isolated microcephaly
subset: gard_rare
synonym: "microcephaly, non-syndromic" RELATED []
synonym: "Nonsyndromal microcephaly" RELATED [GARD:0003630, MESH:C537542]
synonym: "nonsyndromic microcephaly" RELATED [GARD:0003630, MESH:C537542]
xref: GARD:0003630 {source="MONDO:equivalentTo"}
xref: MESH:C537542 {source="MONDO:equivalentTo"}
is_a: MONDO:0005042 ! head disease
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931527
property_value: exactMatch http://identifiers.org/mesh/C537542

[Term]
id: MONDO:0043139
name: microcephaly sparse hair mental retardation seizures
subset: gard_rare
xref: GARD:0003633 {source="MONDO:equivalentTo"}
xref: MESH:C537545 {source="MONDO:equivalentTo"}
xref: UMLS:C2931530 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003633", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
is_a: MONDO:0001386 {source="MESH:C537545"} ! visual epilepsy
is_a: MONDO:0004907 {source="MESH:C537545"} ! alopecia
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537545"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537545
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931530

[Term]
id: MONDO:0043141
name: microdontia hypodontia short stature
subset: gard_rare
synonym: "microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality" RELATED [GARD:0003638]
xref: GARD:0003638 {source="MONDO:equivalentTo"}
xref: MESH:C537553 {source="MONDO:equivalentTo"}
xref: UMLS:C2931532 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003638"}
is_a: MONDO:0008797 {source="MESH:C537553"} ! anodontia
is_a: MONDO:0015514 {source="MESH:C537553"} ! genetic endocrine growth disease
property_value: exactMatch http://identifiers.org/mesh/C537553
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931532

[Term]
id: MONDO:0043143
name: microphthalmia microtia fetal akinesia
subset: gard_rare
subset: ordo_malformation_syndrome
synonym: "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED [GARD:0003650]
synonym: "microphthalmia-microtia-fetal akinesia" RELATED [GARD:0003650]
synonym: "Thomas Jewett Raines syndrome" RELATED [GARD:0003650]
synonym: "Thomas-Jewett-Raines syndrome" RELATED [GARD:0003650]
xref: GARD:0003650 {source="MONDO:equivalentTo"}
xref: MESH:C536513 {source="MONDO:equivalentTo"}
xref: Orphanet:2547 {source="MONDO:equivalentTo", source="GARD:0003650"}
xref: UMLS:C2931224 {source="MONDO:equivalentTo", source="Orphanet:2547"}
is_a: MONDO:0015168 {source="Orphanet:2547"} ! arthrogryposis multiplex congenita
is_a: MONDO:0016073 {source="Orphanet:2547"} ! syndromic microphthalmia
is_a: MONDO:0043009 {source="Orphanet:2547"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536513
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931224
property_value: exactMatch Orphanet:2547

[Term]
id: MONDO:0043152
name: negative rheumatoid factor polyarthritis
subset: gard_rare
synonym: "RF-ve CP" RELATED [GARD:0003931, MESH:C538347]
synonym: "rheumatoid factor negative erosive chronic polyarthritis" RELATED [GARD:0003931, MESH:C538347]
synonym: "rheumatoid factor-negative polyarthritis" RELATED [GARD:0003931, MESH:C538347]
xref: GARD:0003931 {source="MONDO:equivalentTo"}
xref: MESH:C538347 {source="MONDO:equivalentTo"}
xref: UMLS:C2931825 {source="MEDGEN:kboom-pr98-c99", source="GARD:0003931", source="MONDO:equivalentTo"}
is_a: MONDO:0005578 {source="MESH:C538347", source="MONDOLEX:0043152"} ! arthritis
property_value: exactMatch http://identifiers.org/mesh/C538347
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931825

[Term]
id: MONDO:0043154
name: neonatal ovarian cyst
subset: gard_rare
synonym: "fetal ovarian cyst" RELATED [GARD:0003934, MESH:C536396]
xref: GARD:0003934 {source="MONDO:equivalentTo"}
xref: MESH:C536396 {source="MONDO:equivalentTo"}
xref: UMLS:C2931186 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003934"}
is_a: MONDO:0003282 {source="MESH:C536396"} ! ovarian cyst (disease)
property_value: exactMatch http://identifiers.org/mesh/C536396
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931186

[Term]
id: MONDO:0043156
name: nephrotic syndrome ocular anomalies
subset: gard_rare
synonym: "familial infantile nephrotic syndrome with ocular abnormalities" RELATED [GARD:0003945, MESH:C536403]
synonym: "Glastre Cochat Bouvier syndrome" RELATED [GARD:0003945, MESH:C536403]
xref: GARD:0003945 {source="MONDO:equivalentTo"}
xref: MESH:C536403 {source="MONDO:equivalentTo"}
xref: UMLS:C2931188 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0003945"}
is_a: MONDO:0005377 {source="MESH:C536403", source="MONDOLEX:0043156"} ! nephrotic syndrome
property_value: exactMatch http://identifiers.org/mesh/C536403
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931188

[Term]
id: MONDO:0043162
name: pagon stephan syndrome
subset: gard_rare
synonym: "septo-optic dysplasia with digital anomalies" RELATED [GARD:0004195, MESH:C538100]
xref: GARD:0004195 {source="MONDO:equivalentTo"}
xref: MESH:C538100 {source="MONDO:equivalentTo"}
xref: UMLS:C2931733 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004195"}
is_a: MONDO:0008428 {source="MESH:C538100", source="MONDOLEX:0043162"} ! septooptic dysplasia
property_value: closeMatch Orphanet:1853
property_value: exactMatch http://identifiers.org/mesh/C538100
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931733

[Term]
id: MONDO:0043164
name: palmer pagon syndrome
subset: gard_rare
synonym: "familial hydrocephalus with a low-insertion umbilicus" RELATED [GARD:0004199]
synonym: "hydrocephaly - low insertion umbilicus" RELATED [GARD:0004199]
xref: GARD:0004199 {source="MONDO:equivalentTo"}
xref: MESH:C538107 {source="MONDO:equivalentTo"}
xref: UMLS:C2931734 {source="MONDO:equivalentTo", source="GARD:0004199"}
is_a: MONDO:0001150 {source="MESH:C538107"} ! hydrocephalus
property_value: closeMatch Orphanet:2184
property_value: exactMatch http://identifiers.org/mesh/C538107
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931734

[Term]
id: MONDO:0043166
name: pancreatic lipomatosis duodenal stenosis
subset: gard_rare
synonym: "pancreatic lipomatosis and duodenal atresia" RELATED [GARD:0004208, MESH:C535839]
xref: GARD:0004208 {source="MONDO:equivalentTo"}
xref: MESH:C535839 {source="MONDO:equivalentTo"}
xref: UMLS:C2931040 {source="MEDGEN:kboom-pr98-c99", source="GARD:0004208", source="MONDO:equivalentTo"}
is_a: MONDO:0002688 {source="MESH:C535839"} ! duodenal obstruction
is_a: MONDO:0006574 {source="MESH:C535839"} ! lipomatosis
is_a: MONDO:0006734 ! benign duodenal neoplasm
is_a: MONDO:0021470 ! benign neoplasm of pancreas
property_value: exactMatch http://identifiers.org/mesh/C535839
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931040

[Term]
id: MONDO:0043168
name: panostotic fibrous dysplasia
subset: gard_rare
synonym: "unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia" RELATED [GARD:0004213]
xref: GARD:0004213 {source="MONDO:equivalentTo"}
xref: MESH:C537164 {source="MONDO:equivalentTo"}
xref: UMLS:C2931430 {source="GARD:0004213", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0009692 {source="MESH:C537164"} ! primary myelofibrosis
is_a: MONDO:0016640 {source="MESH:C537164"} ! fibrous dysplasia of bone
property_value: exactMatch http://identifiers.org/mesh/C537164
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931430

[Term]
id: MONDO:0043170
name: Pavone Fiumara Rizzo syndrome
subset: gard_rare
synonym: "Pavone Fiumara Rizzo syndrome" EXACT [GARD:0004262]
synonym: "syndactyly type 1 with cataracts and mental retardation" RELATED [MESH:C536313]
xref: GARD:0004262 {source="MONDO:equivalentTo"}
xref: MESH:C536313 {source="MONDO:equivalentTo"}
xref: UMLS:C2931172 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004262"}
is_a: MONDO:0002254 {source="MONDOLEX:0043170"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536313
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931172

[Term]
id: MONDO:0043172
name: pfeiffer rockelein syndrome
subset: gard_rare
synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" RELATED [GARD:0004306, MESH:C537890]
xref: GARD:0004306 {source="MONDO:equivalentTo"}
xref: MESH:C537890 {source="MONDO:equivalentTo"}
xref: UMLS:C2931656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004306"}
is_a: MONDO:0002254 {source="MONDOLEX:0043172"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537890
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931656

[Term]
id: MONDO:0043174
name: Pfeiffer Tietze Welte syndrome
subset: gard_rare
synonym: "sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th" RELATED [GARD:0004308]
xref: GARD:0004308 {source="MONDO:equivalentTo"}
xref: MESH:C537891 {source="MONDO:equivalentTo"}
xref: UMLS:C2931657 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004308"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537891"} ! intellectual disability
property_value: exactMatch http://identifiers.org/mesh/C537891
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931657

[Term]
id: MONDO:0043176
name: phosphoribosylpyrophosphate synthetase deficiency
subset: gard_rare
synonym: "PRPP synthetase deficiency" RELATED [GARD:0004337]
xref: GARD:0004337 {source="MONDO:equivalentTo"}
xref: HGNC:9462 {source="GARD:0004337", source="MONDO:gene"}
xref: MESH:C537897 {source="MONDO:equivalentTo"}
xref: SCTID:124343001 {source="MONDO:equivalentTo"}
xref: UMLS:C1291401 {source="MEDGEN:kboom-pr98-c99", source="GARD:0004337", source="MONDO:equivalentTo"}
is_a: MONDO:0019254 {source="MESH:C537897"} ! inborn disorder of purine or pyrimidine metabolism
property_value: exactMatch http://identifiers.org/mesh/C537897
property_value: exactMatch http://identifiers.org/snomedct/124343001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291401

[Term]
id: MONDO:0043179
name: piepkorn karp hickok syndrome
subset: gard_rare
synonym: "short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect" RELATED [GARD:0004345]
xref: GARD:0004345 {source="MONDO:equivalentTo"}
xref: MESH:C535774 {source="MONDO:equivalentTo"}
xref: UMLS:C2931016 {source="GARD:0004345", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043179"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C535774
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931016

[Term]
id: MONDO:0043181
name: refsum disease with increased pipecolic acidemia
subset: gard_rare
synonym: "RDPA" RELATED [GARD:0004371]
xref: GARD:0004371 {source="MONDO:equivalentTo"}
xref: MESH:C535517 {source="MONDO:equivalentTo"}
xref: UMLS:C1833022 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004371"}
is_a: MONDO:0009958 {source="MESH:C535517"} ! adult Refsum disease
property_value: closeMatch http://identifiers.org/omim/600964
property_value: exactMatch http://identifiers.org/mesh/C535517
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833022

[Term]
id: MONDO:0043183
name: podder-tolmie syndrome
subset: gard_rare
synonym: "meningoencephalocele, arthrogryposis and hypoplastic thumbs" RELATED [GARD:0004387, MESH:C537518]
xref: GARD:0004387 {source="MONDO:equivalentTo"}
xref: MESH:C537518 {source="MONDO:equivalentTo"}
xref: UMLS:C2931519 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004387"}
is_a: MONDO:0002254 {source="MONDOLEX:0043183"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537518
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931519

[Term]
id: MONDO:0043185
name: pointer syndrome
subset: gard_rare
synonym: "skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" RELATED [GARD:0004395, MESH:C536323]
xref: GARD:0004395 {source="MONDO:equivalentTo"}
xref: MESH:C536323 {source="MONDO:equivalentTo"}
xref: UMLS:C0796118 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004395"}
is_a: MONDO:0002254 {source="MONDOLEX:0043185"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C536323
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0796118

[Term]
id: MONDO:0043187
name: pulmonary artery agenesis
subset: gard_rare
synonym: "agenesis of pulmonary artery" EXACT []
synonym: "congenital absence of pulmonary artery" RELATED []
synonym: "pulmonary artery absent" RELATED []
synonym: "pulmonary artery agenesis" EXACT []
xref: GARD:0004585 {source="MONDO:equivalentTo"}
xref: SCTID:86252004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 ! arterial disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0265905
property_value: exactMatch http://identifiers.org/snomedct/86252004

[Term]
id: MONDO:0043191
name: radial defect robin sequence
subset: gard_rare
synonym: "bilateral radial defects club foot deformity micrognathia and cleft palate" RELATED [GARD:0004624]
synonym: "bilateral radial defects, club foot deformity, micrognathia and cleft palate" RELATED [MESH:C536261]
synonym: "Bruce Winship syndrome" RELATED [GARD:0004624]
synonym: "Bruce winship syndrome" RELATED [MESH:C536261]
xref: GARD:0004624 {source="MONDO:equivalentTo"}
xref: MESH:C536261 {source="MONDO:equivalentTo"}
xref: UMLS:C2931143 {source="MEDGEN:kboom-pr98-c99", source="GARD:0004624", source="MONDO:equivalentTo"}
is_a: MONDO:0009869 {source="MESH:C536261"} ! isolated Pierre-Robin syndrome
property_value: exactMatch http://identifiers.org/mesh/C536261
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931143

[Term]
id: MONDO:0043193
name: richieri-costa guion-almeida cohen syndrome
subset: gard_rare
synonym: "acrofacial dysostosis Richieri Costa Guion-Almeida type" RELATED [MESH:C535676]
synonym: "overgrowth - craniosynostosis - arthrogryposis" RELATED [GARD:0004712]
synonym: "Richieri Costa Guion-Almeida dwarfism" RELATED [MESH:C535676]
synonym: "Richieri-costa Guion-Almeida Cohen syndrome" EXACT [MESH:C535676]
xref: GARD:0004712 {source="MONDO:equivalentTo"}
xref: MESH:C535676 {source="MONDO:equivalentTo"}
xref: UMLS:C2930979 {source="GARD:0004712", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043193"} ! syndromic disease
property_value: closeMatch Orphanet:2096
property_value: exactMatch http://identifiers.org/mesh/C535676
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930979

[Term]
id: MONDO:0043195
name: rubinstein taybi like syndrome
subset: gard_rare
synonym: "Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses" RELATED [GARD:0004745]
xref: GARD:0004745 {source="MONDO:equivalentTo"}
xref: MESH:C535877 {source="MONDO:equivalentTo"}
xref: UMLS:C2931052 {source="MEDGEN:kboom-pr98-c99", source="GARD:0004745", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043195"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0019188 ! Rubinstein-Taybi syndrome
property_value: closeMatch http://identifiers.org/omim/180850
property_value: exactMatch http://identifiers.org/mesh/C535877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931052

[Term]
id: MONDO:0043197
name: ruvalcaba churesigaew myhre syndrome
subset: gard_rare
synonym: "onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis" RELATED [GARD:0004747]
xref: GARD:0004747 {source="MONDO:equivalentTo"}
xref: MESH:C537190 {source="MONDO:equivalentTo"}
xref: UMLS:C2931437 {source="MEDGEN:kboom-pr98-c99", source="GARD:0004747", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043197"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537190
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931437

[Term]
id: MONDO:0043199
name: short limb dwarf lethal colavita kozlowski type
subset: gard_rare
synonym: "Colavita Kozlowski syndrome" RELATED [GARD:0004823, MESH:C537597]
xref: GARD:0004823 {source="MONDO:equivalentTo"}
xref: MESH:C537597 {source="MONDO:equivalentTo"}
xref: UMLS:C2931544 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0004823"}
is_a: MONDO:0002254 {source="MONDOLEX:0043199"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/C537597
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2931544

[Term]
id: MONDO:0043206
name: trichostasis spinulosa
def: "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle , a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." [GARD:0005269]
subset: gard_rare
synonym: "elevated dark spiny papules on the face or trunk" RELATED [GARD:0005269]
synonym: "trichostasis spinulosa" EXACT []
xref: GARD:0005269 {source="MONDO:equivalentTo"}
xref: MESH:C536558 {source="MONDO:equivalentTo"}
xref: SCTID:21049007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263487 {source="GARD:0005269", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0002917 {source="MESH:C536558"} ! disease of pilosebaceous unit
is_a: MONDO:0006566 {source="MESH:C536558"} ! keratosis
property_value: closeMatch Orphanet:866
property_value: exactMatch http://identifiers.org/mesh/C536558
property_value: exactMatch http://identifiers.org/snomedct/21049007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263487

[Term]
id: MONDO:0043207
name: urethral obstruction sequence
subset: gard_rare
synonym: "early urethral obstruction sequence" EXACT [GARD:0005428, MESH:C536477]
synonym: "EUOS" RELATED [GARD:0005428]
synonym: "renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction" RELATED [GARD:0005428]
xref: GARD:0005428 {source="MONDO:equivalentTo"}
xref: MESH:C536477 {source="MONDO:equivalentTo"}
xref: SCTID:18241005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265363 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0005428"}
is_a: MONDO:0001556 {source="MESH:C536477", source="linkedlifedata"} ! urethral obstruction (disease)
is_a: MONDO:0018559 {source="linkedlifedata"} ! fetal lower urinary tract obstruction
property_value: exactMatch http://identifiers.org/mesh/C536477
property_value: exactMatch http://identifiers.org/snomedct/18241005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0265363

[Term]
id: MONDO:0043209
name: albinism
def: "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." [NCIT:C84543-modified]
comment: This groups multiple types, including those restricted to the eyes, the skin or both
subset: gard_rare
synonym: "albinism" EXACT [NCIT:C84543]
xref: GARD:0005768 {source="MONDO:equivalentTo"}
xref: ICD10:E70.3 {source="MONDO:equivalentTo"}
xref: MESH:D000417 {source="MONDO:equivalentTo"}
xref: NCIT:C84543 {source="MONDO:equivalentTo"}
xref: SCTID:15890002 {source="MONDO:equivalentTo"}
xref: UMLS:C0001916 {source="MEDGEN:kboom-pr98-c99", source="GARD:0005768", source="MONDO:equivalentTo", source="NCIT:C84543"}
is_a: MONDO:0004736 {source="MESH:D000417"} ! inherited amino acid metabolic disorder
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:D000417"} ! genetic skin disease
property_value: exactMatch http://identifiers.org/mesh/D000417
property_value: exactMatch http://identifiers.org/snomedct/15890002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001916
property_value: exactMatch NCIT:C84543

[Term]
id: MONDO:0043218
name: neurovascular disease
def: "A disorder of the nervous system related to a vascular etiology." [NCIT:C117007]
synonym: "disease of nervous system vasculature" EXACT []
synonym: "nervous system disorder of vasculature" EXACT [MONDO:design_pattern]
synonym: "neurovascular disorder" EXACT [NCIT:C117007]
synonym: "vasculature nervous system disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: NCIT:C117007 {source="MONDO:equivalentTo"}
xref: UMLS:C3898144 {source="MONDO:equivalentTo", source="NCIT:C117007", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0005071 {source="MONDO:Redundant", source="NCIT:C117007"} ! nervous system disorder
is_a: MONDO:0005385 ! vascular disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898144
property_value: exactMatch NCIT:C117007

[Term]
id: MONDO:0043219
name: migraine with brainstem aura
def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." [NCIT:C117013]
subset: gard_rare
synonym: "basilar artery migraine" RELATED [GARD:0005896]
synonym: "basilar artery migraine with aura" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "basilar migraine" EXACT []
synonym: "basilar-type migraine" EXACT [GARD:0005896, NCIT:C117013]
synonym: "Bickerstaff migraine" RELATED [GARD:0005896]
synonym: "bickerstaff's migraine" RELATED []
synonym: "brainstem migraine" RELATED [GARD:0005896]
synonym: "MBA" RELATED [GARD:0005896]
synonym: "vertebrobasilar migraine" RELATED [GARD:0005896]
xref: GARD:0005896 {source="MONDO:equivalentTo"}
xref: NCIT:C117013 {source="MONDO:equivalentTo"}
xref: SCTID:83351003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005475 {source="MONDO:Redundant", source="MONDOLEX"} ! migraine with aura
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0270860
property_value: exactMatch http://identifiers.org/snomedct/83351003
property_value: exactMatch NCIT:C117013

[Term]
id: MONDO:0043224
name: multi-infarct dementia
def: "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." [NCIT:C34522]
subset: gard_rare
synonym: "arteriosclerotic dementia" RELATED []
synonym: "Binswanger disease" RELATED [GARD:0005925]
synonym: "Binswanger's disease" RELATED [GARD:0005925]
synonym: "dementia multi infarct" RELATED [MESH:D015161]
synonym: "dementia multi-infarct" RELATED [GARD:0005925, MESH:D015161]
synonym: "dementia multi-infarcts" RELATED [MESH:D015161]
synonym: "dementia, lacunar" RELATED [MESH:D015161]
synonym: "dementia, multi infarct" RELATED [MESH:D015161]
synonym: "dementia, Multiinfarct" RELATED [MESH:D015161]
synonym: "Dementias, lacunar" RELATED [MESH:D015161]
synonym: "Dementias, multi-infarct" RELATED [MESH:D015161]
synonym: "Dementias, Multiinfarct" RELATED [MESH:D015161]
synonym: "lacunar dementia" RELATED [MESH:D015161]
synonym: "lacunar Dementias" RELATED [MESH:D015161]
synonym: "multi infarct dementia" EXACT [NCIT:C34522]
synonym: "multi-infarct dementia" EXACT [GARD:0005925, MESH:D015161, NCIT:C34522]
synonym: "multi-infarct Dementias" RELATED [MESH:D015161]
synonym: "multi-infarct, dementia" RELATED [MESH:D015161]
synonym: "multi-infarcts, dementia" RELATED [MESH:D015161]
synonym: "Multiinfarct dementia" RELATED [MESH:D015161]
synonym: "Multiinfarct Dementias" RELATED [MESH:D015161]
xref: GARD:0005925 {source="MONDO:equivalentTo"}
xref: MESH:D015161 {source="MONDO:equivalentTo"}
xref: NCIT:C34522 {source="MONDO:equivalentTo"}
xref: SCTID:56267009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002679 {source="MESH:D015161", source="linkedlifedata"} ! cerebral infarction
is_a: MONDO:0004648 {source="MESH:D015161", source="MONDOLEX:0043224", source="NCIT:C34522", source="linkedlifedata"} ! vascular dementia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0011263
property_value: exactMatch http://identifiers.org/mesh/D015161
property_value: exactMatch http://identifiers.org/snomedct/56267009
property_value: exactMatch NCIT:C34522

[Term]
id: MONDO:0043226
name: postpartum amenorrhea-galactorrhea syndrome
subset: gard_rare
synonym: "Chiari Frommel syndrome" RELATED [MESH:D002640]
synonym: "Chiari-frommel syndrome" RELATED []
synonym: "disease, Frommel" RELATED [MESH:D002640]
synonym: "disease, Frommel's" RELATED [MESH:D002640]
synonym: "Frommel disease" RELATED [MESH:D002640]
synonym: "Frommel's disease" RELATED [MESH:D002640]
synonym: "persistent postpartum amenorrhea-galactorrhea syndrome" RELATED []
synonym: "postpartum amenorrhea-galactorrhea syndrome" EXACT []
synonym: "postpartum amenorrhoea-galactorrhea syndrome" RELATED []
synonym: "syndrome, Chiari-Frommel" RELATED [MESH:D002640]
xref: EFO:1001291 {source="MONDO:equivalentTo"}
xref: GARD:0006037 {source="MONDO:equivalentTo"}
xref: MESH:D002640 {source="MONDO:equivalentTo"}
xref: SCTID:85039006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002657 {source="MESH:D002640/inferred", source="linkedlifedata"} ! breast disease
is_a: MONDO:0009256 {source="MESH:D002640"} ! galactorrhea (disease)
is_a: MONDO:0014250 ! familial hyperprolactinemia
is_a: MONDO:0024575 {source="MESH:D002640/inferred"} ! pregnancy disorder
is_a: MONDO:0044013 {source="MESH:D002640/inferred", source="linkedlifedata/inferred"} ! puerperal disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008043
property_value: exactMatch http://identifiers.org/mesh/D002640
property_value: exactMatch http://identifiers.org/snomedct/85039006

[Term]
id: MONDO:0043230
name: ciguatera fish poisoning
def: "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841]
subset: gard_rare
synonym: "ciguatera" RELATED [MESH:D036841]
synonym: "ciguatera fish poisoning" EXACT [MESH:D036841]
synonym: "ciguatera fish Poisonings" RELATED [MESH:D036841]
synonym: "ciguatera poisoning" RELATED [GARD:0006113]
synonym: "ciguatera Poisonings" RELATED [MESH:D036841]
synonym: "ciguatoxin causing toxic effect" EXACT []
synonym: "poisoning, ciguatera" RELATED [MESH:D036841]
synonym: "poisoning, ciguatera fish" RELATED [MESH:D036841]
synonym: "Poisonings, ciguatera" RELATED [MESH:D036841]
synonym: "Poisonings, ciguatera fish" RELATED [MESH:D036841]
synonym: "toxic effect of ciguatera fish poisoning" RELATED []
xref: GARD:0006113 {source="MONDO:equivalentTo"}
xref: MESH:D036841 {source="MONDO:equivalentTo"}
xref: SCTID:241774007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D036841/inferred", source="linkedlifedata"} ! poisoning
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0008775
property_value: exactMatch http://identifiers.org/mesh/D036841
property_value: exactMatch http://identifiers.org/snomedct/241774007

[Term]
id: MONDO:0043233
name: exfoliative dermatitis
def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873]
subset: gard_rare
synonym: "Dermatitides, exfoliative" RELATED [MESH:D003873]
synonym: "dermatitis exfoliativa" RELATED [MESH:D003873]
synonym: "erythroderma" RELATED [MESH:D003873]
synonym: "Erythrodermas" RELATED [MESH:D003873]
synonym: "exfoliative Dermatitides" RELATED [MESH:D003873]
synonym: "exfoliative dermatitis" EXACT [MESH:D003873]
xref: GARD:0006393 {source="MONDO:equivalentTo"}
xref: MESH:D003873 {source="MONDO:equivalentTo"}
xref: NCIT:C39646 {source="MONDO:equivalentTo"}
xref: SCTID:399992009 {source="MONDO:equivalentTo"}
xref: UMLS:C0011606 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0006393"}
is_a: MONDO:0002406 {source="MESH:D003873"} ! dermatitis
property_value: exactMatch http://identifiers.org/mesh/D003873
property_value: exactMatch http://identifiers.org/snomedct/399992009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011606
property_value: exactMatch NCIT:C39646

[Term]
id: MONDO:0043237
name: glossodynia
def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926]
subset: gard_rare
synonym: "glossalgia" RELATED []
synonym: "Glossalgias" RELATED [MESH:D005926]
synonym: "glossodynia" EXACT [MESH:D005926]
synonym: "Glossodynias" RELATED [MESH:D005926]
synonym: "Glossopyroses" RELATED [MESH:D005926]
synonym: "glossopyrosis" RELATED [MESH:D005926]
synonym: "painful tongue" RELATED []
synonym: "soreness of tongue" RELATED []
xref: GARD:0006518 {source="MONDO:equivalentTo"}
xref: MESH:D005926 {source="MONDO:equivalentTo"}
xref: SCTID:30731004 {source="MONDO:equivalentTo"}
is_a: MONDO:0001165 {source="MESH:D005926", source="linkedlifedata"} ! tongue disease
is_a: MONDO:0021668 {source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder involving pain
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0017672
property_value: exactMatch http://identifiers.org/mesh/D005926
property_value: exactMatch http://identifiers.org/snomedct/30731004

[Term]
id: MONDO:0043240
name: hemophilic arthropathy
def: "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." [NCIT:C27039]
subset: gard_rare
synonym: "arthropathy in hemophilia" RELATED []
synonym: "hemophilic arthritis" EXACT [NCIT:C27039]
synonym: "hemophilic arthropathy" EXACT []
xref: GARD:0006592 {source="MONDO:equivalentTo"}
xref: NCIT:C27039 {source="MONDO:equivalentTo"}
xref: SCTID:80813006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263725 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C27039", source="GARD:0006592"}
is_a: MONDO:0005578 {source="MONDOLEX:0043240", source="NCIT:C27039"} ! arthritis
relationship: disease_has_feature MONDO:0018660 {source="NCIT:C27039"} ! hemophilia
property_value: exactMatch http://identifiers.org/snomedct/80813006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263725
property_value: exactMatch NCIT:C27039

[Term]
id: MONDO:0043243
name: leukoplakia
def: "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3186]
subset: gard_rare
synonym: "keratotic plaque" EXACT [NCIT:C3186]
synonym: "lesion, leukoplakic" RELATED [MESH:D007971]
synonym: "lesions, leukoplakic" RELATED [MESH:D007971]
synonym: "leukokeratoses" RELATED [MESH:D007971]
synonym: "leukokeratosis" RELATED [MESH:D007971]
synonym: "leukoplakia" EXACT [NCIT:C3186]
synonym: "leukoplakias" RELATED [MESH:D007971]
synonym: "leukoplakic lesion" RELATED [MESH:D007971]
synonym: "leukoplakic lesions" RELATED [MESH:D007971]
xref: GARD:0006897 {source="MONDO:equivalentTo"}
xref: MESH:D007971 {source="MONDO:equivalentTo"}
xref: NCIT:C3186 {source="MONDO:equivalentTo"}
xref: SCTID:274134003 {source="MONDO:equivalentTo"}
xref: UMLS:C0023531 {source="GARD:0006897", source="MEDGEN:kboom-pr98-c99", source="NCIT:C3186", source="MONDO:equivalentTo"}
is_a: MONDO:0021074 {source="MESH:D007971", source="NCIT:C3186"} ! precancerous condition
property_value: exactMatch http://identifiers.org/mesh/D007971
property_value: exactMatch http://identifiers.org/snomedct/274134003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023531
property_value: exactMatch NCIT:C3186

[Term]
id: MONDO:0043247
name: Mallory-Weiss syndrome
def: "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." [NCIT:C84881]
subset: gard_rare
synonym: "gastro-esophageal laceration-hemorrhage syndrome" RELATED []
synonym: "gastroesophageal laceration hemorrhage" RELATED [MESH:D008309]
synonym: "gastroesophageal laceration-hemorrhage" RELATED [GARD:0006967, MESH:D008309]
synonym: "gastroesophageal laceration-hemorrhage syndrome" RELATED []
synonym: "gastroesophageal laceration-hemorrhages" RELATED [MESH:D008309]
synonym: "junction, mucosal Lacerations-gastroesophageal" RELATED [MESH:D008309]
synonym: "junctions, mucosal Lacerations-gastroesophageal" RELATED [MESH:D008309]
synonym: "laceration, Mallory-Weiss" RELATED [MESH:D008309]
synonym: "laceration-hemorrhage, gastroesophageal" RELATED [MESH:D008309]
synonym: "laceration-hemorrhages, gastroesophageal" RELATED [MESH:D008309]
synonym: "Lacerations-gastroesophageal junction, mucosal" RELATED [MESH:D008309]
synonym: "Lacerations-gastroesophageal junctions, mucosal" RELATED [MESH:D008309]
synonym: "Mallory Weiss laceration" RELATED [MESH:D008309]
synonym: "Mallory Weiss syndrome" RELATED [MESH:D008309]
synonym: "Mallory Weiss tear" RELATED [MESH:D008309]
synonym: "Mallory-Weiss laceration" RELATED [GARD:0006967, MESH:D008309]
synonym: "Mallory-Weiss syndrome" EXACT [NCIT:C84881]
synonym: "Mallory-Weiss tear" RELATED [GARD:0006967, MESH:D008309]
synonym: "mucosal lacerations - gastroesophageal junction" RELATED [GARD:0006967]
synonym: "mucosal Lacerations gastroesophageal junction" RELATED [MESH:D008309]
synonym: "mucosal Lacerations-gastroesophageal junction" RELATED [MESH:D008309]
synonym: "mucosal Lacerations-gastroesophageal junctions" RELATED [MESH:D008309]
synonym: "syndrome, Mallory-Weiss" RELATED [MESH:D008309]
xref: GARD:0006967 {source="MONDO:equivalentTo"}
xref: MESH:D008309 {source="MONDO:equivalentTo"}
xref: NCIT:C84881 {source="MONDO:equivalentTo"}
xref: SCTID:35265002 {source="MONDO:equivalentTo"}
xref: UMLS:C0024633 {source="MEDGEN:kboom-pr98-c99", source="GARD:0006967", source="MONDO:equivalentTo", source="NCIT:C84881"}
is_a: MONDO:0002243 ! hemorrhagic disease
is_a: MONDO:0002254 {source="MONDOLEX:0043247", source="NCIT:C84881"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84881"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/D008309
property_value: exactMatch http://identifiers.org/snomedct/35265002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0024633
property_value: exactMatch NCIT:C84881

[Term]
id: MONDO:0043251
name: odontoma
def: "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." [NCIT:C3287]
subset: gard_rare
synonym: "ameloblastic fibro-odontoma" RELATED [MESH:D009810]
synonym: "ameloblastic fibro-odontomas" RELATED [MESH:D009810]
synonym: "compound odontoma" RELATED [MESH:D009810]
synonym: "compound odontomas" RELATED [MESH:D009810]
synonym: "fibro odontoma" RELATED [MESH:D009810]
synonym: "fibro odontoma, ameloblastic" RELATED [MESH:D009810]
synonym: "fibro-odontoma" EXACT [NCIT:C3287]
synonym: "fibro-odontoma, ameloblastic" RELATED [MESH:D009810]
synonym: "fibro-odontomas" RELATED [MESH:D009810]
synonym: "fibro-odontomas, ameloblastic" RELATED [MESH:D009810]
synonym: "fibroodontoma" EXACT [MESH:D009810, NCIT:C3287]
synonym: "fibroodontomas" RELATED [MESH:D009810]
synonym: "odontoma" EXACT [NCIT:C3287]
synonym: "odontoma, benign" EXACT [NCIT:C3287]
synonym: "odontoma, compound" RELATED [MESH:D009810]
synonym: "odontomas" RELATED [MESH:D009810]
synonym: "odontomas, compound" RELATED [MESH:D009810]
xref: GARD:0007247 {source="MONDO:equivalentTo"}
xref: ICDO:9280/0 {source="NCIT:C3287"}
xref: MESH:D009810 {source="MONDO:equivalentTo"}
xref: NCIT:C3287 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 ! head and neck neoplasm
is_a: MONDO:0006499 {source="NCIT:C3287"} ! hamartoma (disease)
is_a: MONDO:0006858 ! mouth disease
is_a: MONDO:0021223 ! digestive system neoplasm
relationship: excluded_subClassOf MONDO:0021192 {source="MESH:D009810"} ! odontogenic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0028882
property_value: exactMatch http://identifiers.org/mesh/D009810
property_value: exactMatch NCIT:C3287

[Term]
id: MONDO:0043254
name: papular urticaria
subset: gard_rare
synonym: "bullous papular urticaria - type" RELATED [GARD:0007322, MESH:C537169]
synonym: "lichen urticatus" RELATED []
synonym: "papular urticaria" EXACT []
synonym: "prurigo simplex" EXACT []
synonym: "strophulus" RELATED []
synonym: "urticaria papulosa of hebra" RELATED []
xref: GARD:0007322 {source="MONDO:equivalentTo"}
xref: MESH:C537169 {source="MONDO:equivalentTo"}
xref: SCTID:55608001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005492 {source="MESH:C537169"} ! urticaria (disease)
is_a: MONDO:0006617 {source="MESH:C537169"} ! vesiculobullous skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263352
property_value: exactMatch http://identifiers.org/mesh/C537169
property_value: exactMatch http://identifiers.org/snomedct/55608001

[Term]
id: MONDO:0043257
name: pemphigus and fogo selvagem
subset: gard_rare
synonym: "amendola's syndrome" RELATED []
synonym: "Brazilian pemphigus" RELATED [GARD:0007353, MESH:C535551]
synonym: "Brazilian pemphigus foliaceus" EXACT [GARD:0007353, MESH:C535551]
synonym: "endemic pemphigus foliaceus" RELATED [GARD:0007353, MESH:C535551]
synonym: "fogo selvagem" RELATED []
synonym: "FS" RELATED [GARD:0007353]
synonym: "South American pemphigus" RELATED [GARD:0007353, MESH:C535551]
synonym: "wild fire" RELATED []
synonym: "wildfire pemphigus" RELATED []
xref: GARD:0007353 {source="MONDO:equivalentTo"}
xref: HGNC:3048 {source="GARD:0007353"}
xref: MESH:C535551 {source="MONDO:equivalentTo"}
xref: SCTID:46459009 {source="MONDO:equivalentTo"}
xref: UMLS:C0263314 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0007353"}
is_a: MONDO:0006594 {source="MESH:C535551", source="linkedlifedata/inferred"} ! pemphigus
is_a: MONDO:0019324 {source="linkedlifedata"} ! pemphigus foliaceus
property_value: exactMatch http://identifiers.org/mesh/C535551
property_value: exactMatch http://identifiers.org/snomedct/46459009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263314

[Term]
id: MONDO:0043264
name: post-traumatic epilepsy
def: "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" [MESH:D004834]
subset: gard_rare
synonym: "concussive convulsion" RELATED [MESH:D004834]
synonym: "concussive convulsions" RELATED [MESH:D004834]
synonym: "convulsion, concussive" RELATED [MESH:D004834]
synonym: "convulsions, concussive" RELATED [MESH:D004834]
synonym: "disorder, post-traumatic seizure" RELATED [MESH:D004834]
synonym: "disorders, post-traumatic seizure" RELATED [MESH:D004834]
synonym: "early post traumatic seizures" RELATED [MESH:D004834]
synonym: "early post-traumatic seizure" RELATED [MESH:D004834]
synonym: "early post-traumatic seizures" RELATED [MESH:D004834]
synonym: "Epilepsies, post-traumatic" RELATED [MESH:D004834]
synonym: "Epilepsies, traumatic" RELATED [MESH:D004834]
synonym: "epilepsy, post traumatic" RELATED [MESH:D004834]
synonym: "epilepsy, traumatic" RELATED [MESH:D004834]
synonym: "impact seizure" RELATED [MESH:D004834]
synonym: "impact seizures" RELATED [MESH:D004834]
synonym: "late post traumatic seizures" RELATED [MESH:D004834]
synonym: "late post-traumatic seizure" RELATED [MESH:D004834]
synonym: "late post-traumatic seizures" RELATED [MESH:D004834]
synonym: "post traumatic seizure disorder" RELATED [MESH:D004834]
synonym: "post-traumatic Epilepsies" RELATED [MESH:D004834]
synonym: "post-traumatic epilepsy" EXACT [MESH:D004834]
synonym: "post-traumatic seizure disorder" RELATED [MESH:D004834]
synonym: "post-traumatic seizure disorders" RELATED [MESH:D004834]
synonym: "post-traumatic seizure, early" RELATED [MESH:D004834]
synonym: "post-traumatic seizure, late" RELATED [MESH:D004834]
synonym: "post-traumatic seizures, early" RELATED [MESH:D004834]
synonym: "post-traumatic seizures, late" RELATED [MESH:D004834]
synonym: "PTE - post-traumatic epilepsy" RELATED []
synonym: "seizure disorder, post traumatic" RELATED [MESH:D004834]
synonym: "seizure disorder, post-traumatic" RELATED [MESH:D004834]
synonym: "seizure disorders, post-traumatic" RELATED [MESH:D004834]
synonym: "seizure, early post-traumatic" RELATED [MESH:D004834]
synonym: "seizure, late post-traumatic" RELATED [MESH:D004834]
synonym: "seizures, early post-traumatic" RELATED [MESH:D004834]
synonym: "seizures, late post-traumatic" RELATED [MESH:D004834]
synonym: "traumatic Epilepsies" RELATED [MESH:D004834]
synonym: "traumatic epilepsy" RELATED [MESH:D004834]
xref: GARD:0007437 {source="MONDO:equivalentTo"}
xref: MESH:D004834 {source="MONDO:equivalentTo"}
xref: SCTID:75023009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751126 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="MESH:D004834", source="linkedlifedata"} ! epilepsy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0014557
property_value: exactMatch http://identifiers.org/mesh/D004834
property_value: exactMatch http://identifiers.org/snomedct/75023009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751126

[Term]
id: MONDO:0043267
name: rheumatoid vasculitis
def: "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." [MESH:D056653]
subset: gard_rare
synonym: "rheumatoid Vasculitides" RELATED [MESH:D056653]
synonym: "rheumatoid vasculitis" EXACT []
synonym: "Vasculitides, rheumatoid" RELATED [MESH:D056653]
synonym: "vasculitis, rheumatoid" RELATED [MESH:D056653]
xref: GARD:0007577 {source="MONDO:equivalentTo"}
xref: MESH:D056653 {source="MONDO:equivalentTo"}
xref: SCTID:400054000 {source="MONDO:equivalentTo"}
xref: UMLS:C0240903 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0007577"}
is_a: MONDO:0008383 {source="MESH:D056653", source="linkedlifedata/inferred"} ! rheumatoid arthritis
is_a: MONDO:0030703 {source="linkedlifedata"} ! autoimmune vasculitis
property_value: exactMatch http://identifiers.org/mesh/D056653
property_value: exactMatch http://identifiers.org/snomedct/400054000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0240903

[Term]
id: MONDO:0043275
name: TORCH syndrome
def: "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." [NCIT:C98609]
subset: gard_rare
synonym: "TORCH infection" EXACT [NCIT:C98609]
synonym: "TORCH syndrome" EXACT [NCIT:C98609]
synonym: "torch syndrome" EXACT []
synonym: "Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection" RELATED []
synonym: "toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome" EXACT [NCIT:C98609]
synonym: "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome" RELATED []
synonym: "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome" RELATED []
xref: GARD:0007781 {source="MONDO:equivalentTo"}
xref: NCIT:C98609 {source="MONDO:equivalentTo"}
xref: SCTID:41679006 {source="MONDO:equivalentTo"}
xref: UMLS:C0270173 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C98609", source="GARD:0007781"}
is_a: MONDO:0021670 ! post-infectious syndrome
property_value: exactMatch http://identifiers.org/snomedct/41679006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0270173
property_value: exactMatch NCIT:C98609

[Term]
id: MONDO:0043277
name: mosaic trisomy 6
def: "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997)." [http://mosaicism.bcchr.ca/specific/trisomy6.htm]
comment: Editor notes: TODO DPs for partial/complete/mosaic
subset: gard_rare
synonym: "trisomy 6" EXACT [NCIT:C36475]
synonym: "trisomy 6 mosaicism" RELATED [GARD:0007815]
xref: GARD:0007815 {source="MONDO:equivalentTo"}
xref: NCIT:C36475 {source="MONDO:equivalentTo"}
xref: SCTID:205647005 {source="MONDO:equivalentTo"}
is_a: MONDO:0020050 {source="NCIT:C36475"} ! autosomal trisomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432414
property_value: exactMatch http://identifiers.org/snomedct/205647005
property_value: exactMatch NCIT:C36475

[Term]
id: MONDO:0043280
name: Wallerian degeneration
def: "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." [NCIT:C85223]
comment: Editor note: this may represent a process. Consider ceding to HPO
subset: gard_rare
synonym: "Degeneration, Wallerian" RELATED [MESH:D014855]
synonym: "Wallerian Degeneration" EXACT [NCIT:C85223]
synonym: "Wallerian degeneration of the pyramidal tract" RELATED [GARD:0007875]
xref: GARD:0007875 {source="MONDO:equivalentTo"}
xref: MESH:D014855 {source="MONDO:equivalentTo"}
xref: NCIT:C85223 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0024236 ! degenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0043020
property_value: exactMatch http://identifiers.org/mesh/D014855
property_value: exactMatch NCIT:C85223

[Term]
id: MONDO:0043283
name: silicosiderosis
subset: gard_rare
synonym: "hematite miners' lung disease" RELATED []
synonym: "hematite pneumoconiosis" RELATED [GARD:0008372, MESH:C537337]
synonym: "iron miners lung" RELATED [GARD:0008372, MESH:C537337]
synonym: "siderosilicosis" EXACT []
synonym: "silicosiderosis" EXACT []
xref: EFO:1001855 {source="MONDO:equivalentTo"}
xref: GARD:0008372 {source="MONDO:equivalentTo"}
xref: MESH:C537337 {source="MONDO:equivalentTo"}
xref: SCTID:34004002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018929 {source="MEDGEN:kboom-pr98-c99", source="GARD:0008372", source="MONDO:equivalentTo"}
is_a: MONDO:0005960 {source="MESH:C537337", source="MONDOLEX:0043283", source="linkedlifedata"} ! silicosis
property_value: exactMatch http://identifiers.org/mesh/C537337
property_value: exactMatch http://identifiers.org/snomedct/34004002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0018929

[Term]
id: MONDO:0043287
name: superior vena cava syndrome
def: "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." [NCIT:C3396]
subset: gard_rare
synonym: "superior vena cava obstruction" RELATED [GARD:0009264, MESH:D013479]
synonym: "superior vena cava syndrome" EXACT [NCIT:C3396]
synonym: "superior vena cava thrombosis" RELATED [MESH:D013479]
synonym: "SVC obstruction" RELATED [GARD:0009264]
synonym: "SVC syndrome" RELATED [GARD:0009264]
synonym: "SVCS" RELATED [GARD:0009264]
xref: GARD:0009264 {source="MONDO:equivalentTo"}
xref: MESH:D013479 {source="MONDO:equivalentTo"}
xref: NCIT:C3396 {source="MONDO:equivalentTo"}
xref: SCTID:63363004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043287", source="NCIT:C3396"} ! syndromic disease
is_a: MONDO:0005385 {source="MESH:D013479", source="linkedlifedata/inferred"} ! vascular disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0038833
property_value: exactMatch http://identifiers.org/mesh/D013479
property_value: exactMatch http://identifiers.org/snomedct/63363004
property_value: exactMatch NCIT:C3396

[Term]
id: MONDO:0043291
name: Rokitansky-Aschoff sinuses of the gallbladder
def: "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." [MESH:C535869]
subset: gard_rare
synonym: "Aschoff-Rokitansky sinuses" EXACT []
synonym: "intramural diverticulosis of the gallbladder" RELATED [GARD:0009419, MESH:C535869]
synonym: "Rokitansky-Aschoff sinuses" RELATED [GARD:0009419, MESH:C535869]
xref: GARD:0009419 {source="MONDO:equivalentTo"}
xref: MESH:C535869 {source="MONDO:equivalentTo"}
xref: SCTID:22149007 {source="MONDO:equivalentTo"}
xref: UMLS:C0267892 {source="MEDGEN:kboom-pr98-c99", source="GARD:0009419", source="MONDO:equivalentTo"}
is_a: MONDO:0004868 {source="MESH:C535869/inferred", source="linkedlifedata"} ! biliary tract disease
is_a: MONDO:0005281 ! gallbladder disease
relationship: excluded_subClassOf MONDO:0004647 {source="MESH:C535869"} ! in situ carcinoma
property_value: exactMatch http://identifiers.org/mesh/C535869
property_value: exactMatch http://identifiers.org/snomedct/22149007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267892

[Term]
id: MONDO:0043294
name: linear scleroderma
def: "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." [NCIT:C116780]
subset: gard_rare
synonym: "en coup de sabre" RELATED [GARD:0009513]
synonym: "linear morphea" RELATED []
synonym: "linear Scleroderma" EXACT [NCIT:C116780]
synonym: "linear scleroderma" EXACT []
synonym: "Scleroderma, linear" RELATED [GARD:0009513]
xref: GARD:0009513 {source="MONDO:equivalentTo"}
xref: NCIT:C116780 {source="MONDO:equivalentTo"}
xref: SCTID:22784002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019562 {source="MONDOLEX:0043294", source="NCIT:C116780", source="linkedlifedata"} ! localized scleroderma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0263409
property_value: exactMatch http://identifiers.org/snomedct/22784002
property_value: exactMatch NCIT:C116780

[Term]
id: MONDO:0043297
name: vibrio vulnificus infectious disease
def: "An disease or disorder caused by infection with Vibrio vulnificus." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare
synonym: "Vibrio vulnificus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio vulnificus disease or disorder" EXACT []
synonym: "vibrio vulnificus infection" EXACT []
synonym: "Vibrio vulnificus infectious disease" EXACT []
synonym: "vibrio vulnificus infectious disease" EXACT []
xref: GARD:0009584 {source="MONDO:equivalentTo"}
xref: MESH:C536348 {source="MONDO:equivalentTo"}
xref: SCTID:402965002 {source="MONDO:equivalentTo"}
xref: UMLS:C1274377 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="GARD:0009584"}
is_a: MONDO:0007014 {source="MESH:C536348", source="MONDO:Redundant"} ! vibrio infectious disease
property_value: exactMatch http://identifiers.org/mesh/C536348
property_value: exactMatch http://identifiers.org/snomedct/402965002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1274377

[Term]
id: MONDO:0043300
name: actinic cheilitis
subset: gard_rare
synonym: "actinic cheilitis" EXACT []
synonym: "actinic cheilosis" RELATED [GARD:0009619, MESH:C535669]
synonym: "solar keratosis of lip" RELATED []
xref: GARD:0009619 {source="MONDO:equivalentTo"}
xref: MESH:C535669 {source="MONDO:equivalentTo"}
xref: SCTID:46795000 {source="MONDO:equivalentTo"}
xref: UMLS:C0267026 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009619"}
is_a: MONDO:0002102 {source="MESH:C535669", source="linkedlifedata"} ! cheilitis
property_value: exactMatch http://identifiers.org/mesh/C535669
property_value: exactMatch http://identifiers.org/snomedct/46795000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267026

[Term]
id: MONDO:0043303
name: hyperacusis
def: "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." [NCIT:C116366]
subset: gard_rare
synonym: "auditory hyperesthesia" RELATED [MESH:D012001]
synonym: "auditory Hyperesthesias" RELATED [MESH:D012001]
synonym: "disturbance, loudness perception" RELATED [MESH:D012001]
synonym: "disturbances, loudness perception" RELATED [MESH:D012001]
synonym: "hyperacuses" RELATED [MESH:D012001]
synonym: "hyperacusia" RELATED [MESH:D012001]
synonym: "hyperacusias" RELATED [MESH:D012001]
synonym: "hyperacusis" EXACT [NCIT:C116366]
synonym: "hyperesthesia, auditory" RELATED [MESH:D012001]
synonym: "hyperesthesias, auditory" RELATED [MESH:D012001]
synonym: "loudness perception disturbance" RELATED [MESH:D012001]
synonym: "loudness perception disturbances" RELATED [MESH:D012001]
synonym: "loudness recruitment" RELATED [MESH:D012001]
synonym: "loudness Recruitments" RELATED [MESH:D012001]
synonym: "low tolerance to sound" RELATED [GARD:0009655]
synonym: "oversensitive hearing" RELATED []
synonym: "perception disturbance, loudness" RELATED [MESH:D012001]
synonym: "perception disturbances, loudness" RELATED [MESH:D012001]
synonym: "phonophobia" RELATED [MESH:D012001]
synonym: "Phonophobias" RELATED [MESH:D012001]
synonym: "recruitment, loudness" RELATED [MESH:D012001]
synonym: "sounds seem unnaturally loud" RELATED []
xref: GARD:0009655 {source="MONDO:equivalentTo"}
xref: MESH:D012001 {source="MONDO:equivalentTo"}
xref: NCIT:C116366 {source="MONDO:equivalentTo"}
xref: SCTID:25289003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021205 {source="NCIT:C116366/inferred", source="linkedlifedata"} ! disease of ear
is_a: MONDO:0024422 {source="NCIT:C116366"} ! auditory perceptual disorders
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034880
property_value: exactMatch http://identifiers.org/mesh/D012001
property_value: exactMatch http://identifiers.org/snomedct/25289003
property_value: exactMatch NCIT:C116366

[Term]
id: MONDO:0043310
name: amaurosis fugax
def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757]
subset: gard_rare
synonym: "amaurosis fugax" EXACT [NCIT:C84550]
synonym: "amaurosis fugax (one sided temporary vision loss)" RELATED []
synonym: "blindness, monocular, transient" RELATED [MESH:D020757]
synonym: "blindness, transient monocular" RELATED [MESH:D020757]
synonym: "momentary blindness" RELATED []
synonym: "monocular blindness, transient" RELATED [MESH:D020757]
synonym: "transient monocular blindness" RELATED [GARD:0009660, MESH:D020757]
xref: GARD:0009660 {source="MONDO:equivalentTo"}
xref: MESH:D020757 {source="MONDO:equivalentTo"}
xref: NCIT:C84550 {source="MONDO:equivalentTo"}
xref: SCTID:88032003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001941 {source="MESH:D020757", source="linkedlifedata/inferred"} ! blindness (disorder)
relationship: disease_arises_from_feature MONDO:0001538 ! retinal ischemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149793
property_value: exactMatch http://identifiers.org/mesh/D020757
property_value: exactMatch http://identifiers.org/snomedct/88032003
property_value: exactMatch NCIT:C84550

[Term]
id: MONDO:0043314
name: aquarium granuloma
def: "a skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." [https://en.wikipedia.org/wiki/Aquarium_granuloma]
subset: gard_rare
synonym: "aquarium granuloma" EXACT []
synonym: "fish tank granuloma" EXACT [GARD:0009712, MESH:C535526]
synonym: "M. marinum" RELATED [GARD:0009712]
synonym: "Mycobacterium marinum caused skin disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium marinum infection" RELATED [GARD:0009712, MESH:C535526]
synonym: "Mycobacterium marinum skin disease" EXACT []
synonym: "swimming pool granuloma" RELATED []
xref: GARD:0009712 {source="MONDO:equivalentTo"}
xref: MESH:C535526 {source="MONDO:equivalentTo"}
xref: SCTID:240417004 {source="MONDO:equivalentTo"}
xref: UMLS:C0275708 {source="GARD:0009712", source="MONDO:equivalentTo"}
is_a: MONDO:0020590 ! mycobacterial infectious disease
is_a: MONDO:0024295 ! skin disease caused by bacterial infection
property_value: exactMatch http://identifiers.org/mesh/C535526
property_value: exactMatch http://identifiers.org/snomedct/240417004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275708

[Term]
id: MONDO:0043317
name: amyopathic dermatomyositis
def: "Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids . Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids , antimalarial agents, methotrexate , mycophenolate mofetil , or intravenous (IV) immunoglobulin ." [GARD:0009907]
subset: gard_rare
synonym: "ADM" RELATED [GARD:0009907]
synonym: "amyopathic dermatomyositis" EXACT []
synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907]
xref: GARD:0009907 {source="MONDO:equivalentTo"}
xref: MESH:C538250 {source="MONDO:equivalentTo"}
xref: SCTID:238935002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406645 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009907"}
is_a: MONDO:0016367 {source="MESH:C538250", source="MONDOLEX:0043317", source="linkedlifedata"} ! dermatomyositis
property_value: exactMatch http://identifiers.org/mesh/C538250
property_value: exactMatch http://identifiers.org/snomedct/238935002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406645

[Term]
id: MONDO:0043320
name: piriformis syndrome
def: "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." [NCIT:C85012]
subset: gard_rare
synonym: "deep gluteal syndrome" RELATED [GARD:0010026]
synonym: "hip socket neuropathy" RELATED [GARD:0010026]
synonym: "muscle syndrome, piriformis" RELATED [MESH:D055958]
synonym: "muscle syndromes, piriformis" RELATED [MESH:D055958]
synonym: "pelvic outlet syndrome" RELATED []
synonym: "piriformis muscle syndrome" EXACT [NCIT:C85012]
synonym: "piriformis muscle syndromes" RELATED [MESH:D055958]
synonym: "piriformis syndrome" EXACT [MESH:D055958, NCIT:C85012]
synonym: "piriformis syndromes" RELATED [MESH:D055958]
synonym: "Pseudosciatica" RELATED [GARD:0010026]
synonym: "pyriformis syndrome" RELATED [GARD:0010026]
synonym: "syndrome, piriformis" RELATED [MESH:D055958]
synonym: "syndrome, piriformis muscle" RELATED [MESH:D055958]
synonym: "syndromes, piriformis" RELATED [MESH:D055958]
synonym: "syndromes, piriformis muscle" RELATED [MESH:D055958]
synonym: "wallet sciatica" RELATED [GARD:0010026]
xref: GARD:0010026 {source="MONDO:equivalentTo"}
xref: MESH:D055958 {source="MONDO:equivalentTo"}
xref: NCIT:C85012 {source="MONDO:equivalentTo"}
xref: SCTID:129179000 {source="MONDO:equivalentTo"}
xref: UMLS:C0458224 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C85012"}
is_a: MONDO:0002254 {source="MONDOLEX:0043320", source="NCIT:C85012"} ! syndromic disease
is_a: MONDO:0003615 {source="MESH:D055958"} ! nerve compression syndrome
is_a: MONDO:0024333 {source="MONDOLEX:0043320", source="linkedlifedata"} ! sciatica
relationship: disease_has_feature MONDO:0021667 {source="MESH:D055958"} ! neuralgia
property_value: exactMatch http://identifiers.org/mesh/D055958
property_value: exactMatch http://identifiers.org/snomedct/129179000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0458224
property_value: exactMatch NCIT:C85012

[Term]
id: MONDO:0043327
name: cerebrospinal fluid leak
def: "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." [MESH:D065634]
subset: gard_rare
synonym: "cerebrospinal fluid drainage" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Drainages" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak" EXACT []
synonym: "cerebrospinal fluid leak, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Leakages" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Leaks" RELATED [MESH:D065634]
synonym: "csf - cerebrospinal fluid leak" RELATED []
synonym: "CSF leak" RELATED [GARD:0010166]
synonym: "CSF otorrhea" RELATED [GARD:0010166]
synonym: "CSF rhinorrhea" RELATED [GARD:0010166]
synonym: "drainage, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Drainages, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "fluid drainage, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Drainages, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid leak, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid leakage, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Leakages, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Leaks, cerebrospinal" RELATED [MESH:D065634]
synonym: "leak, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "leakage, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Leakages, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Leaks, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, post traumatic" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, post-traumatic" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, spontaneous" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, traumatic" RELATED [MESH:D065634]
synonym: "spinal CSF leak" RELATED [GARD:0010166]
xref: GARD:0010166 {source="MONDO:equivalentTo"}
xref: MESH:D065634 {source="MONDO:equivalentTo"}
xref: SCTID:230744007 {source="MONDO:equivalentTo"}
is_a: MONDO:0002602 {source="linkedlifedata/inferred"} ! central nervous system disease
property_value: exactMatch http://identifiers.org/mesh/D065634
property_value: exactMatch http://identifiers.org/snomedct/230744007

[Term]
id: MONDO:0043330
name: Mirizzi syndrome
def: "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever." [MESH:D057792]
subset: gard_rare
subset: ordo_clinical_syndrome
synonym: "hepatic duct dystonia syndrome" RELATED []
synonym: "Mirizzi syndrome" EXACT []
synonym: "Mirizzi's syndrome" RELATED [GARD:0010177, MESH:D057792]
synonym: "mirizzi's syndrome" EXACT []
synonym: "Mirizzis syndrome" RELATED [MESH:D057792]
synonym: "syndrome, Mirizzi" RELATED [MESH:D057792]
synonym: "syndrome, Mirizzi's" RELATED [MESH:D057792]
xref: EFO:1001860 {source="MONDO:equivalentTo"}
xref: GARD:0010177 {source="MONDO:equivalentTo"}
xref: MESH:D057792 {source="MONDO:equivalentTo"}
xref: Orphanet:521219 {source="MONDO:equivalentTo"}
xref: SCTID:4283007 {source="MONDO:equivalentTo"}
xref: UMLS:C0267878 {source="GARD:0010177", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0006757 {source="linkedlifedata"} ! extrahepatic cholestasis
property_value: exactMatch http://identifiers.org/mesh/D057792
property_value: exactMatch http://identifiers.org/snomedct/4283007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267878
property_value: exactMatch Orphanet:521219

[Term]
id: MONDO:0043339
name: lathyrism
def: "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." [MESH:D007842]
subset: gard_rare
synonym: "lathyrism" EXACT []
synonym: "Lathyrus species poisoning" EXACT []
synonym: "Neurolathyrism" RELATED [MESH:D007842]
synonym: "vetchling poisoning" RELATED []
xref: EFO:1001776 {source="MONDO:equivalentTo"}
xref: GARD:0010441 {source="MONDO:equivalentTo"}
xref: MESH:D007842 {source="MONDO:equivalentTo"}
xref: SCTID:5724005 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D007842/inferred", source="linkedlifedata/inferred"} ! poisoning
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023119
property_value: exactMatch http://identifiers.org/mesh/D007842
property_value: exactMatch http://identifiers.org/snomedct/5724005

[Term]
id: MONDO:0043343
name: Chilaiditi syndrome
def: "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [MESH:D059269]
subset: gard_rare
synonym: "anomaly, Chilaiditi" RELATED [MESH:D059269]
synonym: "anomaly, Chilaiditi's" RELATED [MESH:D059269]
synonym: "Chilaiditi anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditi's anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditi's syndrome" RELATED [MESH:D059269]
synonym: "chilaiditi's syndrome" RELATED []
synonym: "Chilaiditis anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditis syndrome" RELATED [MESH:D059269]
synonym: "hepatodiaphragmatic colonic interposition" RELATED []
synonym: "subphrenic interposition syndrome" EXACT []
synonym: "syndrome, Chilaiditi" RELATED [MESH:D059269]
synonym: "syndrome, Chilaiditi's" RELATED [MESH:D059269]
xref: GARD:0010685 {source="MONDO:equivalentTo"}
xref: MESH:D059269 {source="MONDO:equivalentTo"}
xref: SCTID:14911005 {source="MONDO:equivalentTo"}
is_a: MONDO:0003409 {source="MESH:D059269", source="linkedlifedata"} ! colonic disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0267494
property_value: exactMatch http://identifiers.org/mesh/D059269
property_value: exactMatch http://identifiers.org/snomedct/14911005

[Term]
id: MONDO:0043346
name: progressive transformation of germinal centers
def: "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits . adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." [GARD:0010712]
comment: Editor note: represents a finding in NCIT
subset: gard_rare
synonym: "progressive transformation of Germinal centers" EXACT [NCIT:C38408]
synonym: "PTGC" RELATED [GARD:0010712]
xref: GARD:0010712 {source="MONDO:equivalentTo"}
xref: MESH:C548085 {source="MONDO:equivalentTo"}
xref: NCIT:C38408 {source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="MESH:C548085"} ! lymphoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1514481
property_value: exactMatch http://identifiers.org/mesh/C548085
property_value: exactMatch NCIT:C38408

[Term]
id: MONDO:0043349
name: intravascular papillary endothelial hyperplasia
def: "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." [NCIT:C4391]
subset: gard_rare
synonym: "intravascular papillary endothelial hyperplasia" EXACT [NCIT:C4391]
synonym: "Masson lesion" EXACT [NCIT:C4391]
synonym: "Masson pseudotumor" EXACT [NCIT:C4391]
synonym: "Masson's pseudoangiosarcoma" RELATED [GARD:0010733]
synonym: "Masson's pseudosarcoma" EXACT [NCIT:C4391]
synonym: "masson's pseudosarcoma" RELATED []
synonym: "Masson's pseudotumor" EXACT [NCIT:C4391]
synonym: "Masson's tumor" RELATED [GARD:0010733]
synonym: "Masson's vegetant hemangioma" EXACT [NCIT:C4391]
synonym: "Masson's vegetant intravascular hemangio-endothelioma" RELATED [GARD:0010733]
synonym: "papillary endothelial hyperplasia" EXACT [NCIT:C4391]
xref: GARD:0010733 {source="MONDO:equivalentTo"}
xref: NCIT:C4391 {source="MONDO:equivalentTo"}
xref: SCTID:238770007 {source="MONDO:equivalentTo"}
xref: UMLS:C0343083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4391"}
is_a: MONDO:0024461 {source="NCIT:C4391"} ! angiomatosis
property_value: exactMatch http://identifiers.org/snomedct/238770007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343083
property_value: exactMatch NCIT:C4391

[Term]
id: MONDO:0043352
name: fournier gangrene
def: "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." [MESH:D018934]
subset: gard_rare
synonym: "Fournier disease" RELATED [MESH:D018934]
synonym: "fournier gangrene" EXACT []
synonym: "Fournier's disease" RELATED [MESH:D018934]
synonym: "Fournier's gangrene" RELATED [GARD:0010912, MESH:D018934]
synonym: "fournier's gangrene" EXACT []
synonym: "Fourniers disease" RELATED [MESH:D018934]
synonym: "Fourniers gangrene" RELATED [MESH:D018934]
synonym: "gangrene, Fournier" RELATED [MESH:D018934]
synonym: "gangrene, Fournier's" RELATED [MESH:D018934]
xref: GARD:0010912 {source="MONDO:equivalentTo"}
xref: MESH:D018934 {source="MONDO:equivalentTo"}
xref: SCTID:398318005 {source="MONDO:equivalentTo"}
xref: UMLS:C0238419 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="MESH:D018934", source="linkedlifedata/inferred"} ! male reproductive system disease
is_a: MONDO:0005113 {source="MESH:D018934", source="linkedlifedata/inferred"} ! bacterial infectious disease
property_value: exactMatch http://identifiers.org/mesh/D018934
property_value: exactMatch http://identifiers.org/snomedct/398318005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238419

[Term]
id: MONDO:0043355
name: collagenous gastritis
def: "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." [NCIT:C122082]
subset: gard_rare
synonym: "collagenous gastritis" EXACT [NCIT:C122082]
xref: GARD:0010961 {source="MONDO:equivalentTo"}
xref: NCIT:C122082 {source="MONDO:equivalentTo"}
xref: SCTID:711499009 {source="MONDO:equivalentTo"}
xref: UMLS:C4040043 {source="NCIT:C122082", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0004966 {source="MONDOLEX:0043355", source="NCIT:C122082"} ! gastritis (disease)
property_value: exactMatch http://identifiers.org/snomedct/711499009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4040043
property_value: exactMatch NCIT:C122082

[Term]
id: MONDO:0043358
name: engraftment syndrome
def: "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." [NCIT:C63324]
subset: gard_rare
synonym: "engraftment syndrome" EXACT [NCIT:C63324]
xref: GARD:0011909 {source="MONDO:equivalentTo"}
xref: NCIT:C63324 {source="MONDO:equivalentTo"}
xref: SCTID:426768001 {source="MONDO:equivalentTo"}
xref: UMLS:C0919746 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C63324"}
is_a: MONDO:0002254 {source="MONDOLEX:0043358"} ! syndromic disease
property_value: exactMatch http://identifiers.org/snomedct/426768001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0919746
property_value: exactMatch NCIT:C63324

[Term]
id: MONDO:0043361
name: May-Thurner syndrome
def: "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." [MESH:D062108]
subset: gard_rare
synonym: "Cockett syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "compression syndrome, Iliocaval" RELATED [MESH:D062108]
synonym: "compression syndromes, Iliocaval" RELATED [MESH:D062108]
synonym: "Iliac vein compression syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "iliac vein compression syndrome" EXACT []
synonym: "Iliocaval compression syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "Iliocaval compression syndromes" RELATED [MESH:D062108]
synonym: "May Thurner syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "May-Thurner syndrome" EXACT []
synonym: "syndrome, Cockett" RELATED [MESH:D062108]
synonym: "syndrome, Iliocaval compression" RELATED [MESH:D062108]
synonym: "syndrome, May-Thurner" RELATED [MESH:D062108]
synonym: "syndromes, Iliocaval compression" RELATED [MESH:D062108]
xref: GARD:0012141 {source="MONDO:equivalentTo"}
xref: MESH:D062108 {source="MONDO:equivalentTo"}
xref: SCTID:448804008 {source="MONDO:equivalentTo"}
xref: UMLS:C3165062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005294 {source="MESH:D062108"} ! peripheral vascular disease
property_value: exactMatch http://identifiers.org/mesh/D062108
property_value: exactMatch http://identifiers.org/snomedct/448804008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3165062

[Term]
id: MONDO:0043364
name: eosinophil peroxidase deficiency
subset: gard_rare
synonym: "eosinophil peroxidase deficiency" EXACT []
synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500]
synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893]
synonym: "eosinophil peroxidase deficiency; EPXD" RELATED [OMIM:261500]
synonym: "EPXD" RELATED [GARD:0012361, OMIM:261500]
synonym: "peroxidase and phospholipid deficiency in eosinophils" RELATED [GARD:0012361, MESH:C564893, OMIM:261500]
synonym: "Presentey anomaly" RELATED [GARD:0012361, OMIM:261500]
synonym: "presentey anomaly" RELATED []
xref: GARD:0012361 {source="MONDO:equivalentTo"}
xref: MESH:C564893 {source="MONDO:equivalentTo"}
xref: OMIM:261500 {source="MONDO:equivalentTo", source="GARD:0012361"}
xref: SCTID:711160007 {source="MONDO:equivalentTo"}
xref: UMLS:C1850000 {source="MONDO:equivalentTo", source="OMIM:261500"}
is_a: MONDO:0004805 {source="MESH:C564893", source="linkedlifedata/inferred"} ! leukocyte disease
is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease
property_value: exactMatch http://identifiers.org/mesh/C564893
property_value: exactMatch http://identifiers.org/omim/261500
property_value: exactMatch http://identifiers.org/snomedct/711160007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1850000

[Term]
id: MONDO:0043370
name: secondary adrenal insufficiency
def: "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex." [NCIT:C62602]
subset: gard_rare
synonym: "central adrenal insufficiency" EXACT [NCIT:C62602]
synonym: "central Hypoadrenalism" EXACT [NCIT:C62602]
synonym: "hypocortisolism secondary to another disorder" EXACT []
synonym: "secondary adrenal insufficiency" EXACT [NCIT:C62602]
synonym: "secondary adrenocortical insufficiency" RELATED []
synonym: "secondary hypocortisolism" RELATED []
xref: GARD:0012735 {source="MONDO:equivalentTo"}
xref: NCIT:C62602 {source="MONDO:equivalentTo"}
xref: SCTID:16685009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271738 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
xref: UMLS:C0948387 {source="MEDGEN:kboom-pr98-c98", source="NCIT:C62602", source="MONDO:equivalentTo"}
is_a: MONDO:0000004 {source="NCIT:C62602", source="linkedlifedata"} ! adrenocortical insufficiency
property_value: exactMatch http://identifiers.org/snomedct/16685009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271738
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0948387
property_value: exactMatch NCIT:C62602

[Term]
id: MONDO:0043373
name: sudden sensorineural hearing loss
def: "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." [MESH:D003639]
subset: gard_rare
synonym: "acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma" RELATED [GARD:0012927]
synonym: "deafness, sudden" RELATED [MESH:D003639]
synonym: "sudden deafness" RELATED [GARD:0012927, MESH:D003639]
synonym: "sudden hearing loss" BROAD [MESH:D003639]
synonym: "sudden sensorineural hearing loss" EXACT []
xref: GARD:0012927 {source="MONDO:equivalentTo"}
xref: MESH:D003639 {source="MONDO:equivalentTo"}
xref: SCTID:715239002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275242 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020677 ! sudden hearing loss disorder
is_a: MONDO:0020678 ! sensorineural hearing loss disorder
property_value: closeMatch Orphanet:90059
property_value: exactMatch http://identifiers.org/mesh/D003639
property_value: exactMatch http://identifiers.org/snomedct/715239002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4275242

[Term]
id: MONDO:0043377
name: juvenile spondyloarthropathy
def: "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood." [NCIT:C114347]
subset: gard_rare
synonym: "JSpA" EXACT [NCIT:C114347]
synonym: "juvenile Spondyloarthritis" EXACT [NCIT:C114347]
synonym: "juvenile spondyloarthropathy" EXACT [NCIT:C114347]
xref: GARD:0012939 {source="MONDO:equivalentTo"}
xref: NCIT:C114347 {source="MONDO:equivalentTo"}
xref: SCTID:239806000 {source="MONDO:equivalentTo"}
xref: UMLS:C0409676 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C114347"}
is_a: MONDO:0005306 {source="linkedlifedata"} ! ankylosing spondylitis
property_value: closeMatch http://identifiers.org/snomedct/239796000
property_value: exactMatch http://identifiers.org/snomedct/239806000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409676
property_value: exactMatch NCIT:C114347

[Term]
id: MONDO:0043424
name: digestive system infectious disease
def: "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." [NCIT:C35503]
synonym: "digestive system infection" EXACT [NCIT:C35503]
synonym: "gastrointestinal infection" EXACT [NCIT:C35503]
synonym: "gastrointestinal system infection" EXACT [NCIT:C35503]
synonym: "infection of gastrointestinal tract" RELATED []
xref: NCIT:C35503 {source="MONDO:equivalentTo"}
xref: SCTID:715852004 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
is_a: MONDO:0005550 ! infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0729555
property_value: exactMatch http://identifiers.org/snomedct/715852004
property_value: exactMatch NCIT:C35503

[Term]
id: MONDO:0043452
name: chromosome 8, trisomy
def: "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." [NCIT:C36396]
synonym: "chromosome 8 duplication" RELATED [MESH:C537942]
synonym: "trisomy 8" EXACT [MESH:C537942, NCIT:C36396]
xref: MESH:C537942 {source="MONDO:equivalentTo"}
xref: NCIT:C36396 {source="MONDO:equivalentTo"}
xref: SCTID:205649008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020050 {source="NCIT:C36396"} ! autosomal trisomy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0432412
property_value: exactMatch http://identifiers.org/mesh/C537942
property_value: exactMatch http://identifiers.org/snomedct/205649008
property_value: exactMatch NCIT:C36396

[Term]
id: MONDO:0043455
name: humoral hypercalcemia of malignancy
def: "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function." [NCIT:C3496]
synonym: "hhm" RELATED []
synonym: "humoral hypercalcemia of malignancy" EXACT []
synonym: "hypercalcemia of malignancy" EXACT [NCIT:C3496]
synonym: "mahc" RELATED []
synonym: "malignancy associated hypercalcemia" RELATED []
synonym: "malignant hypercalcemia" RELATED []
xref: MESH:C562390 {source="MONDO:equivalentTo"}
xref: NCIT:C3496 {source="MONDO:equivalentTo"}
xref: SCTID:47709007 {source="MONDO:equivalentTo"}
xref: UMLS:C0149911 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3496"}
is_a: MONDO:0001566 {source="MESH:C562390", source="NCIT:C3496", source="linkedlifedata"} ! hypercalcemia disease
is_a: MONDO:0021073 {source="MESH:C562390"} ! paraneoplastic syndrome
property_value: exactMatch http://identifiers.org/mesh/C562390
property_value: exactMatch http://identifiers.org/snomedct/47709007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149911
property_value: exactMatch NCIT:C3496

[Term]
id: MONDO:0043458
name: radiation injury
def: "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." [MESH:D011832]
synonym: "Injuries, radiation" RELATED [MESH:D011832]
synonym: "injury, radiation" RELATED [MESH:D011832]
synonym: "radiation injury" EXACT [MESH:D011832]
synonym: "radiation sickness" RELATED [MESH:D011832]
synonym: "radiation Sicknesses" RELATED [MESH:D011832]
synonym: "radiation syndrome" RELATED [MESH:D011832]
synonym: "radiation syndromes" RELATED [MESH:D011832]
synonym: "sickness, radiation" RELATED [MESH:D011832]
synonym: "Sicknesses, radiation" RELATED [MESH:D011832]
synonym: "syndrome, radiation" RELATED [MESH:D011832]
synonym: "syndromes, radiation" RELATED [MESH:D011832]
xref: MESH:D011832 {source="MONDO:equivalentTo"}
xref: UMLS:C0034535 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 ! injury
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: exactMatch http://identifiers.org/mesh/D011832
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034535

[Term]
id: MONDO:0043459
name: radiation-induced disorder
def: "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." [NCIT:C26684]
subset: ordo_group_of_disorders
synonym: "abnormalities, radiation induced" RELATED [MESH:D000016]
synonym: "Abnormality, radiation-induced" RELATED [MESH:D000016]
synonym: "radiation induced abnormalities" RELATED [MESH:D000016]
synonym: "radiation-induced abnormalities" EXACT [NCIT:C26684]
synonym: "radiation-induced Abnormality" EXACT [MESH:D000016, NCIT:C26684]
synonym: "radiation-induced disorder" EXACT [NCIT:C26684]
xref: MESH:D000016 {source="MONDO:equivalentTo"}
xref: NCIT:C26684 {source="MONDO:equivalentTo"}
xref: Orphanet:521132 {source="MONDO:equivalentTo"}
xref: SCTID:85983004 {source="MONDO:equivalentTo"}
xref: UMLS:C1527225 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0045028 {source="MONDO:Redundant"} ! radiation or chemically induced disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0000773
property_value: exactMatch http://identifiers.org/mesh/D000016
property_value: exactMatch http://identifiers.org/snomedct/85983004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1527225
property_value: exactMatch NCIT:C26684
property_value: exactMatch Orphanet:521132

[Term]
id: MONDO:0043465
name: achlorhydria
def: "Absence of hydrochloric acid in the gastric juice." [NCIT:C2850]
synonym: "absent gastric acidity" RELATED []
synonym: "achlorhydria" EXACT [NCIT:C2850]
synonym: "achylia gastrica" RELATED [MESH:D000126]
synonym: "gastric anacidity" RELATED []
synonym: "hypochlorhydria" RELATED [MESH:D000126]
xref: MESH:D000126 {source="MONDO:equivalentTo"}
xref: NCIT:C2850 {source="MONDO:equivalentTo"}
xref: SCTID:47481007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004298 {source="MESH:D000126", source="NCIT:C2850/inferred", source="linkedlifedata/inferred"} ! stomach disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001075
property_value: exactMatch http://identifiers.org/mesh/D000126
property_value: exactMatch http://identifiers.org/snomedct/47481007
property_value: exactMatch NCIT:C2850

[Term]
id: MONDO:0043468
name: acne keloid
def: "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent." [NCIT:C34346]
synonym: "acne keloid" EXACT [NCIT:C34346]
synonym: "acne Keloidalis" RELATED [MESH:D000153]
synonym: "acne keloids" RELATED [MESH:D000153]
synonym: "acne, keloidal" RELATED [MESH:D000153]
synonym: "acne, nuchal keloid" RELATED [MESH:D000153]
synonym: "Acnes, nuchal keloid" RELATED [MESH:D000153]
synonym: "Capillitii, dermatitis papillaris" RELATED [MESH:D000153]
synonym: "Capillitius, dermatitis papillaris" RELATED [MESH:D000153]
synonym: "dermatitis papillaris Capillitii" RELATED [MESH:D000153]
synonym: "dermatitis papillaris Capillitius" RELATED [MESH:D000153]
synonym: "folliculitis Keloidalis" RELATED [MESH:D000153]
synonym: "folliculitis Keloidalis nuchae" RELATED [MESH:D000153]
synonym: "keloid acne, nuchal" RELATED [MESH:D000153]
synonym: "keloid Acnes, nuchal" RELATED [MESH:D000153]
synonym: "keloid, acne" RELATED [MESH:D000153]
synonym: "keloidal acne" RELATED [MESH:D000153]
synonym: "keloidal Acnes" RELATED [MESH:D000153]
synonym: "keloidal folliculitis" EXACT [NCIT:C34346]
synonym: "Keloidalis nuchae, folliculitis" RELATED [MESH:D000153]
synonym: "Keloidalis nuchae, lichen" RELATED [MESH:D000153]
synonym: "keloids, acne" RELATED [MESH:D000153]
synonym: "lichen Keloidalis nuchae" RELATED [MESH:D000153]
synonym: "nuchae, folliculitis Keloidalis" RELATED [MESH:D000153]
synonym: "nuchae, lichen Keloidalis" RELATED [MESH:D000153]
synonym: "nuchal keloid acne" RELATED [MESH:D000153]
synonym: "nuchal keloid Acnes" RELATED [MESH:D000153]
synonym: "papillaris Capillitii, dermatitis" RELATED [MESH:D000153]
synonym: "papillaris Capillitius, dermatitis" RELATED [MESH:D000153]
xref: EFO:1001256 {source="MONDO:equivalentTo"}
xref: MESH:D000153 {source="MONDO:equivalentTo"}
xref: NCIT:C34346 {source="MONDO:equivalentTo"}
xref: SCTID:238746008 {source="MONDO:equivalentTo"}
xref: UMLS:C0001145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34346"}
is_a: MONDO:0005348 {source="MESH:D000153", source="NCIT:C34346"} ! keloid
is_a: MONDO:0006552 {source="MESH:D000153", source="MONDOLEX:0043468"} ! folliculitis
property_value: exactMatch http://identifiers.org/mesh/D000153
property_value: exactMatch http://identifiers.org/snomedct/238746008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001145
property_value: exactMatch NCIT:C34346

[Term]
id: MONDO:0043472
name: ectopic ACTH secretion syndrome
def: "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" [NCIT:C4387]
synonym: "ACTH syndromes, ectopic" RELATED [MESH:D000182]
synonym: "ectopic ACTH secretion" EXACT [NCIT:C4387]
synonym: "ectopic ACTH secretion causing Cushing's syndrome" RELATED []
synonym: "ectopic ACTH secretion syndrome" EXACT [NCIT:C4387]
synonym: "ectopic ACTH syndrome" EXACT [MESH:D000182, NCIT:C4387]
synonym: "ectopic ACTH syndromes" RELATED [MESH:D000182]
synonym: "hypercortisolism due to nonpituitary tumor" EXACT []
synonym: "syndrome, ectopic ACTH" RELATED [MESH:D000182]
synonym: "syndromes, ectopic ACTH" RELATED [MESH:D000182]
xref: MESH:D000182 {source="MONDO:equivalentTo"}
xref: NCIT:C4387 {source="MONDO:equivalentTo"}
xref: SCTID:626004 {source="MONDO:equivalentTo"}
xref: UMLS:C0001231 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4387"}
is_a: MONDO:0005495 ! adrenal gland disease
is_a: MONDO:0021058 {source="NCIT:C4387/inferred"} ! neoplastic syndrome
property_value: exactMatch http://identifiers.org/mesh/D000182
property_value: exactMatch http://identifiers.org/snomedct/626004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001231
property_value: exactMatch NCIT:C4387

[Term]
id: MONDO:0043475
name: Adams-Stokes syndrome
def: "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." [NCIT:C79765]
synonym: "Adam Stokes attacks" RELATED [MESH:D000219]
synonym: "Adam-Stokes attacks" RELATED [MESH:D000219]
synonym: "Adams Stokes syndrome" RELATED [MESH:D000219]
synonym: "attacks, Adam-Stokes" RELATED [MESH:D000219]
synonym: "attacks, Stokes-Adams" RELATED [MESH:D000219]
synonym: "Stokes Adams attacks" RELATED [MESH:D000219]
synonym: "Stokes Adams syndrome" RELATED [MESH:D000219]
synonym: "Stokes-Adams attacks" RELATED [MESH:D000219]
synonym: "Stokes-Adams syndrome" EXACT [MESH:D000219, NCIT:C79765]
synonym: "Stokes-Adams-morgagni syndrome" RELATED []
synonym: "syndrome, Adams-Stokes" RELATED [MESH:D000219]
synonym: "syndrome, Stokes-Adams" RELATED [MESH:D000219]
xref: EFO:1001259 {source="MONDO:equivalentTo"}
xref: MESH:D000219 {source="MONDO:equivalentTo"}
xref: NCIT:C79765 {source="MONDO:equivalentTo"}
xref: SCTID:46935006 {source="MONDO:equivalentTo"}
xref: UMLS:C0001396 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C79765"}
is_a: MONDO:0002254 {source="MONDOLEX:0043475", source="NCIT:C79765"} ! syndromic disease
is_a: MONDO:0008848 {source="MESH:D000219"} ! atrioventricular dissociation (disease)
property_value: exactMatch http://identifiers.org/mesh/D000219
property_value: exactMatch http://identifiers.org/snomedct/46935006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001396
property_value: exactMatch NCIT:C79765

[Term]
id: MONDO:0043479
name: adenoviridae infectious disease
def: "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis." [NCIT:C115149]
comment: Editor note: check adenovirus vs adenoviridae
synonym: "Adenoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Adenoviridae disease or disorder" EXACT []
synonym: "Adenoviridae infection" RELATED [MESH:D000257]
synonym: "Adenoviridae infectious disease" EXACT []
synonym: "adenoviridae infectious disease" EXACT []
synonym: "adenovirus infection" EXACT [MESH:D000257, NCIT:C115149]
synonym: "adenovirus infections" RELATED [MESH:D000257]
synonym: "disease caused by adenovirus" RELATED []
synonym: "disease due to adenovirus" EXACT []
synonym: "infection, Adenoviridae" RELATED [MESH:D000257]
synonym: "infection, adenovirus" RELATED [MESH:D000257]
synonym: "infections, Adenoviridae" RELATED [MESH:D000257]
synonym: "infections, adenovirus" RELATED [MESH:D000257]
xref: MESH:D000257 {source="MONDO:equivalentTo"}
xref: NCIT:C115149 {source="MONDO:equivalentTo"}
xref: SCTID:25225006 {source="MONDO:equivalentTo"}
xref: UMLS:C0001486 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C115149"}
is_a: MONDO:0005108 {source="MESH:D000257/inferred", source="MONDO:Redundant", source="MONDOLEX:0043479", source="NCIT:C115149", source="linkedlifedata"} ! viral infectious disease
property_value: exactMatch http://identifiers.org/mesh/D000257
property_value: exactMatch http://identifiers.org/snomedct/25225006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0001486
property_value: exactMatch NCIT:C115149

[Term]
id: MONDO:0043494
name: arteritis
def: "An inflammatory process affecting an artery." [NCIT:C34399]
synonym: "arterial Inflammation" RELATED [MESH:D001167]
synonym: "Arteritides" RELATED [MESH:D001167]
synonym: "arteritis" EXACT [NCIT:C34399]
synonym: "artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of artery" EXACT []
synonym: "Inflammation, arterial" RELATED [MESH:D001167]
xref: EFO:0009011 {source="MONDO:equivalentTo"}
xref: HP:0012089 {source="MONDO:otherHierarchy"}
xref: MESH:D001167 {source="MONDO:equivalentTo"}
xref: NCIT:C34399 {source="MONDO:equivalentTo"}
xref: SCTID:52089001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 {source="MONDO:Redundant", source="NCIT:C34399", source="linkedlifedata"} ! arterial disorder
is_a: MONDO:0018882 {source="EFO:0009011", source="MESH:D001167", source="MONDO:Redundant", source="NCIT:C34399", source="linkedlifedata"} ! vasculitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0003860
property_value: exactMatch http://identifiers.org/mesh/D001167
property_value: exactMatch http://identifiers.org/snomedct/52089001
property_value: exactMatch NCIT:C34399

[Term]
id: MONDO:0043510
name: brain injury
def: "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." [MESH:D001930]
synonym: "brain injury" EXACT [MONDO:patterns/location]
synonym: "brain trauma" RELATED [MESH:D001930]
synonym: "brain Traumas" RELATED [MESH:D001930]
synonym: "injury of brain" EXACT []
xref: MESH:D001930 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
is_a: MONDO:0044745 ! nervous system injury
property_value: exactMatch http://identifiers.org/mesh/D001930

[Term]
id: MONDO:0043512
name: traumatic encephalopathy
def: "Encephalopathy resulting from trauma." [NCIT:C35542]
comment: Editor note: consider separate class for dementia
synonym: "dementia due to head trauma" NARROW []
synonym: "post-traumatic brain syndrome" NARROW []
synonym: "post-traumatic dementia" NARROW []
synonym: "traumatic encephalopathy" EXACT [NCIT:C35542]
xref: EFO:1001277 {source="MONDO:equivalentTo"}
xref: NCIT:C35542 {source="MONDO:equivalentTo"}
xref: SCTID:230282000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="NCIT:C35542", source="linkedlifedata/inferred"} ! brain disease
relationship: disease_arises_from_feature MONDO:0043510 ! brain injury
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0876926
property_value: exactMatch http://identifiers.org/snomedct/230282000
property_value: exactMatch NCIT:C35542

[Term]
id: MONDO:0043519
name: burn
def: "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation." [NCIT:C34441]
synonym: "Burn" EXACT [NCIT:C34441]
synonym: "burn" EXACT [MESH:D002056]
synonym: "Burn(s)" EXACT [NCIT:C34441]
xref: EFO:1001768 {source="MONDO:equivalentTo"}
xref: MESH:D002056 {source="MONDO:equivalentTo"}
xref: NCIT:C34441 {source="MONDO:equivalentTo"}
xref: SCTID:125666000 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="MESH:D002056", source="NCIT:C34441"} ! injury
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0006434
property_value: exactMatch http://identifiers.org/mesh/D002056
property_value: exactMatch http://identifiers.org/snomedct/125666000
property_value: exactMatch NCIT:C34441

[Term]
id: MONDO:0043523
name: cadmium poisoning
def: "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." [MESH:D002105]
synonym: "cadmium poisoning" EXACT []
synonym: "cadmium Poisonings" RELATED [MESH:D002105]
synonym: "Itai Itai" RELATED [MESH:D002105]
synonym: "Itai-Itai" RELATED [MESH:D002105]
synonym: "poisoning, cadmium" RELATED [MESH:D002105]
synonym: "Poisonings, cadmium" RELATED [MESH:D002105]
xref: MESH:D002105 {source="MONDO:equivalentTo"}
xref: SCTID:3398004 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D002105", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning
property_value: exactMatch http://identifiers.org/mesh/D002105
property_value: exactMatch http://identifiers.org/snomedct/3398004

[Term]
id: MONDO:0043529
name: carcinoid heart disease
def: "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." [MESH:D002275]
synonym: "carcinoid heart disease" EXACT []
synonym: "carcinoid heart diseases" RELATED [MESH:D002275]
synonym: "heart disease, carcinoid" RELATED [MESH:D002275]
synonym: "heart diseases, carcinoid" RELATED [MESH:D002275]
xref: EFO:1001775 {source="MONDO:equivalentTo"}
xref: MESH:D002275 {source="MONDO:equivalentTo"}
xref: SCTID:36222008 {source="MONDO:equivalentTo"}
xref: UMLS:C0007093 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MESH:D002275", source="linkedlifedata/inferred"} ! heart disease
relationship: disease_arises_from_feature MONDO:0005369 ! carcinoid tumor (disease)
property_value: exactMatch http://identifiers.org/mesh/D002275
property_value: exactMatch http://identifiers.org/snomedct/36222008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0007093

[Term]
id: MONDO:0043537
name: cluster headache syndrome
def: "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." [NCIT:C117077]
synonym: "atypical cluster headache" RELATED [MESH:D003027]
synonym: "atypical cluster headaches" RELATED [MESH:D003027]
synonym: "Cephalgia, histamine" RELATED [MESH:D003027]
synonym: "Cephalgias, histamine" RELATED [MESH:D003027]
synonym: "chronic cluster headache" RELATED [MESH:D003027]
synonym: "chronic cluster headaches" RELATED [MESH:D003027]
synonym: "ciliary neuralgia" RELATED [MESH:D003027]
synonym: "ciliary Neuralgias" RELATED [MESH:D003027]
synonym: "cluster headache" EXACT [NCIT:C117077]
synonym: "cluster headache syndrome" EXACT [MESH:D003027]
synonym: "cluster headache syndromes" RELATED [MESH:D003027]
synonym: "cluster headache, atypical" RELATED [MESH:D003027]
synonym: "cluster headache, chronic" RELATED [MESH:D003027]
synonym: "cluster headache, episodic" RELATED [MESH:D003027]
synonym: "cluster headaches" RELATED [MESH:D003027]
synonym: "cluster headaches, atypical" RELATED [MESH:D003027]
synonym: "cluster headaches, chronic" RELATED [MESH:D003027]
synonym: "cluster headaches, episodic" RELATED [MESH:D003027]
synonym: "episodic cluster headache" RELATED [MESH:D003027]
synonym: "episodic cluster headaches" RELATED [MESH:D003027]
synonym: "headache syndrome, cluster" RELATED [MESH:D003027]
synonym: "headache syndromes, cluster" RELATED [MESH:D003027]
synonym: "headache, atypical cluster" RELATED [MESH:D003027]
synonym: "headache, chronic cluster" RELATED [MESH:D003027]
synonym: "headache, cluster" RELATED [MESH:D003027]
synonym: "headache, episodic cluster" RELATED [MESH:D003027]
synonym: "headaches, atypical cluster" RELATED [MESH:D003027]
synonym: "headaches, chronic cluster" RELATED [MESH:D003027]
synonym: "headaches, cluster" RELATED [MESH:D003027]
synonym: "headaches, episodic cluster" RELATED [MESH:D003027]
synonym: "histamine Cephalgia" RELATED [MESH:D003027]
synonym: "histamine cephalgia" RELATED []
synonym: "histamine Cephalgias" RELATED [MESH:D003027]
synonym: "histamine headache" RELATED []
synonym: "Horton syndrome" RELATED [MESH:D003027]
synonym: "horton's headache" RELATED []
synonym: "horton's neuralgia" RELATED []
synonym: "Horton's syndrome" RELATED [MESH:D003027]
synonym: "Hortons syndrome" RELATED [MESH:D003027]
synonym: "migraine, neuralgic" RELATED [MESH:D003027]
synonym: "Migraines, neuralgic" RELATED [MESH:D003027]
synonym: "migrainous neuralgia" RELATED []
synonym: "neuralgia, ciliary" RELATED [MESH:D003027]
synonym: "Neuralgias, ciliary" RELATED [MESH:D003027]
synonym: "neuralgic migraine" RELATED [MESH:D003027]
synonym: "neuralgic Migraines" RELATED [MESH:D003027]
synonym: "syndrome, cluster headache" RELATED [MESH:D003027]
synonym: "syndrome, Horton" RELATED [MESH:D003027]
synonym: "syndrome, Horton's" RELATED [MESH:D003027]
synonym: "syndromes, cluster headache" RELATED [MESH:D003027]
synonym: "vasomotor headache" RELATED []
xref: EFO:0008571 {source="MONDO:equivalentTo"}
xref: MESH:D003027 {source="MONDO:equivalentTo"}
xref: NCIT:C117077 {source="MONDO:equivalentTo"}
xref: SCTID:193031009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="MESH:D003027/inferred", source="linkedlifedata"} ! brain disease
is_a: MONDO:0015530 {source="MESH:D003027", source="NCIT:C117077", source="linkedlifedata"} ! trigeminal autonomic cephalalgia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0009088
property_value: exactMatch http://identifiers.org/mesh/D003027
property_value: exactMatch http://identifiers.org/snomedct/193031009
property_value: exactMatch NCIT:C117077

[Term]
id: MONDO:0043541
name: viral conjunctivitis
def: "Conjunctivitis resulting from viral infection." [NCIT:C34509]
synonym: "Conjunctivitides, viral" RELATED [MESH:D003236]
synonym: "viral Conjunctivitides" RELATED [MESH:D003236]
synonym: "viral conjunctivitis" EXACT [MESH:D003236, NCIT:C34509]
synonym: "Viruses caused conjunctivitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses conjunctivitis (disease)" EXACT []
xref: MESH:D003236 {source="MONDO:equivalentTo"}
xref: NCIT:C34509 {source="MONDO:equivalentTo"}
xref: SCTID:45261009 {source="MONDO:equivalentTo"}
xref: UMLS:C0009774 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34509", source="MONDO:equivalentTo"}
is_a: MONDO:0003799 {source="MESH:D003236", source="MONDO:Redundant", source="NCIT:C34509/inferred", source="linkedlifedata/inferred"} ! conjunctivitis (disease)
is_a: MONDO:0020950 ! viral eye infection
property_value: exactMatch http://identifiers.org/mesh/D003236
property_value: exactMatch http://identifiers.org/snomedct/45261009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0009774
property_value: exactMatch NCIT:C34509

[Term]
id: MONDO:0043543
name: iatrogenic disease
def: "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." [MESH:D007049]
synonym: "condition, hospital-acquired" RELATED [MESH:D007049]
synonym: "conditions, hospital-acquired" RELATED [MESH:D007049]
synonym: "disease, iatrogenic" RELATED [MESH:D007049]
synonym: "diseases, iatrogenic" RELATED [MESH:D007049]
synonym: "hospital acquired condition" RELATED [MESH:D007049]
synonym: "hospital-acquired condition" RELATED [MESH:D007049]
synonym: "hospital-acquired conditions" RELATED [MESH:D007049]
synonym: "iatrogenic diseases" RELATED [MESH:D007049]
synonym: "iatrogenic disorder" EXACT []
xref: ICD9:799.9 {source="linkedlifedata"}
xref: MESH:D007049 {source="MONDO:equivalentTo"}
xref: SCTID:12456005 {source="MONDO:equivalentTo"}
xref: UMLS:C0020732 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000001 {source="linkedlifedata/inferred"} ! disease or disorder
property_value: exactMatch http://identifiers.org/mesh/D007049
property_value: exactMatch http://identifiers.org/snomedct/12456005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020732

[Term]
id: MONDO:0043544
name: nosocomial infection
def: "An infection acquired in a hospital or other healthcare setting." [NCIT:C115164]
synonym: "associated infection, Healthcare" RELATED [MESH:D003428]
synonym: "associated infections, Healthcare" RELATED [MESH:D003428]
synonym: "Cross infections" RELATED [MESH:D003428]
synonym: "HAI" BROAD [NCIT:C115164]
synonym: "health care associated infection" RELATED [MESH:D003428]
synonym: "health care associated infections" RELATED [MESH:D003428]
synonym: "Healthcare associated infection" RELATED [MESH:D003428]
synonym: "Healthcare associated infections" RELATED [MESH:D003428]
synonym: "Healthcare-associated infection" EXACT [NCIT:C115164]
synonym: "hospital infection" RELATED [MESH:D003428]
synonym: "hospital infections" RELATED [MESH:D003428]
synonym: "hospital-acquired infection" EXACT [NCIT:C115164]
synonym: "hospital-onset infection" EXACT [NCIT:C115164]
synonym: "infection, Cross" RELATED [MESH:D003428]
synonym: "infection, Healthcare associated" RELATED [MESH:D003428]
synonym: "infection, hospital" RELATED [MESH:D003428]
synonym: "infection, nosocomial" RELATED [MESH:D003428]
synonym: "infections, Cross" RELATED [MESH:D003428]
synonym: "infections, Healthcare associated" RELATED [MESH:D003428]
synonym: "infections, hospital" RELATED [MESH:D003428]
synonym: "infections, nosocomial" RELATED [MESH:D003428]
synonym: "nosocomial infection" EXACT [MESH:D003428, NCIT:C115164]
synonym: "nosocomial infections" RELATED [MESH:D003428]
synonym: "nosocomial infectious disease" EXACT []
xref: EFO:1001299 {source="MONDO:equivalentTo"}
xref: MESH:D003428 {source="MONDO:equivalentTo"}
xref: NCIT:C115164 {source="MONDO:equivalentTo"}
xref: SCTID:19168005 {source="MONDO:equivalentTo"}
xref: UMLS:C0205721 {source="NCIT:C115164", source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C115164", source="linkedlifedata/inferred"} ! infectious disease
is_a: MONDO:0043543 ! iatrogenic disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0043543 ! iatrogenic disease
property_value: exactMatch http://identifiers.org/mesh/D003428
property_value: exactMatch http://identifiers.org/snomedct/19168005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0205721
property_value: exactMatch NCIT:C115164

[Term]
id: MONDO:0043549
name: crush syndrome
def: "a medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle." [https://en.wikipedia.org/wiki/Crush_syndrome]
synonym: "acute renal failure due to rhabdomyolysis" RELATED []
synonym: "bywaters' syndrome" RELATED []
synonym: "crush kidney" RELATED []
synonym: "crush syndrome" EXACT []
synonym: "crush syndromes" RELATED [MESH:D003444]
synonym: "ischemic muscular necrosis syndrome" RELATED []
synonym: "myoglobinuric acute renal failure" RELATED []
synonym: "myoglobinuric nephrosis" RELATED []
synonym: "renal failure following crushing injury" RELATED []
synonym: "syndrome, crush" RELATED [MESH:D003444]
synonym: "syndromes, crush" RELATED [MESH:D003444]
xref: MESH:D003444 {source="MONDO:equivalentTo"}
xref: SCTID:23697004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="linkedlifedata/inferred"} ! kidney disease
relationship: disease_arises_from_feature MONDO:0021178 ! injury
property_value: exactMatch http://identifiers.org/mesh/D003444
property_value: exactMatch http://identifiers.org/snomedct/23697004

[Term]
id: MONDO:0043555
name: infantile diarrhea
def: "Diarrhea occurring in infants from newborn to 24-months old." [MESH:D003968]
synonym: "diarrheal disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "Diarrheas, infantile" RELATED [MESH:D003968]
synonym: "infantile diarrhea" EXACT [MESH:D003968]
synonym: "infantile diarrheal disease" EXACT [MONDO:design_pattern]
synonym: "infantile Diarrheas" RELATED [MESH:D003968]
synonym: "infantile onset diarrheal disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "toddler diarrhea" EXACT []
xref: MESH:D003968 {source="MONDO:equivalentTo"}
xref: SCTID:39963006 {source="MONDO:equivalentTo"}
xref: UMLS:C0473132 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0045031 {source="linkedlifedata"} ! infectious diarrheal disease
property_value: exactMatch http://identifiers.org/mesh/D003968
property_value: exactMatch http://identifiers.org/snomedct/39963006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0473132

[Term]
id: MONDO:0043576
name: endarteritis
def: "Inflammation of the arterial intima." [NCIT:C34581]
synonym: "Endarteritides" RELATED [MESH:D004692]
synonym: "endarteritis" EXACT [NCIT:C34581]
synonym: "inflammation of tunica intima of artery" EXACT []
synonym: "tunica intima of artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: EFO:0009084 {source="MONDO:equivalentTo"}
xref: MESH:D004692 {source="MONDO:equivalentTo"}
xref: NCIT:C34581 {source="MONDO:equivalentTo"}
xref: SCTID:33806008 {source="MONDO:equivalentTo"}
xref: UMLS:C0014100 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34581", source="MONDO:equivalentTo"}
is_a: MONDO:0043494 ! arteritis
property_value: exactMatch http://identifiers.org/mesh/D004692
property_value: exactMatch http://identifiers.org/snomedct/33806008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014100
property_value: exactMatch NCIT:C34581

[Term]
id: MONDO:0043579
name: enteritis
def: "Inflammation of the small intestine." [NCIT:C26765]
synonym: "Enteritides" RELATED [MESH:D004751]
synonym: "enteritis" EXACT [NCIT:C26765]
synonym: "enteritis of small intestine" EXACT []
synonym: "enteritis, inflammatory disorder of small intestine" RELATED []
synonym: "inflammation of small intestine" EXACT []
synonym: "small intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MESH:D004751 {source="MONDO:equivalentTo"}
xref: NCIT:C26765 {source="MONDO:equivalentTo"}
xref: SCTID:64613007 {source="MONDO:equivalentTo"}
xref: UMLS:C0014335 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26765"}
is_a: MONDO:0002269 {source="MESH:D004751", source="MONDO:Redundant"} ! gastroenteritis
is_a: MONDO:0024635 {source="MONDO:Redundant", source="MONDOLEX:0043579", source="linkedlifedata"} ! small intestine disease
property_value: exactMatch http://identifiers.org/mesh/D004751
property_value: exactMatch http://identifiers.org/snomedct/64613007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0014335
property_value: exactMatch NCIT:C26765

[Term]
id: MONDO:0043589
name: femoral neck fracture
def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [MESH:D005265]
synonym: "bone fracture of neck of femur" EXACT [MONDO:design_pattern]
synonym: "femoral neck fracture" EXACT [MESH:D005265]
synonym: "femur neck fracture" RELATED [MESH:D005265]
synonym: "femur neck fractures" RELATED [MESH:D005265]
synonym: "fracture of hip" RELATED []
synonym: "fracture of neck of femur" EXACT []
synonym: "neck of femur bone fracture" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nof - fracture of neck of femur" RELATED []
xref: EFO:1001792 {source="MONDO:equivalentTo"}
xref: MESH:D005265 {source="MONDO:equivalentTo"}
xref: SCTID:5913000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005327 {source="MESH:D005265", source="linkedlifedata"} ! hip fracture
property_value: exactMatch http://identifiers.org/mesh/D005265
property_value: exactMatch http://identifiers.org/snomedct/5913000

[Term]
id: MONDO:0043606
name: obsolete pathologic fracture
def: "A traumatic break in an area of bone that has been weakened by another disease process." [NCIT:C3047]
comment: This was obsoleted because it is a phenotype and not a disease.
synonym: "fracture, pathologic" RELATED [MESH:D005598]
synonym: "fracture, pathological" RELATED [MESH:D005598]
synonym: "fracture, spontaneous" RELATED [MESH:D005598]
synonym: "fractures, pathologic" RELATED [MESH:D005598]
synonym: "fractures, pathological" RELATED [MESH:D005598]
synonym: "pathologic fracture" EXACT [MESH:D005598, NCIT:C3047]
synonym: "pathologic fractures" RELATED [MESH:D005598]
synonym: "pathological fracture" EXACT [MESH:D005598]
synonym: "pathological fractures" RELATED [MESH:D005598]
synonym: "spontaneous fracture" RELATED [MESH:D005598]
synonym: "spontaneous fractures" RELATED [MESH:D005598]
xref: MESH:D005598 {source="MONDO:equivalentTo"}
xref: NCIT:C3047 {source="MONDO:equivalentTo"}
xref: SCTID:268029009 {source="MONDO:equivalentTo"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0016663
property_value: exactMatch http://identifiers.org/mesh/D005598
property_value: exactMatch http://identifiers.org/snomedct/268029009
property_value: exactMatch NCIT:C3047
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/499 xsd:string
is_obsolete: true
replaced_by: HP:0002756

[Term]
id: MONDO:0043653
name: herpes labialis
def: "A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region." [NCIT:C34695]
synonym: "blister, fever" RELATED [MESH:D006560]
synonym: "blisters, fever" RELATED [MESH:D006560]
synonym: "cold Sore" EXACT [MESH:D006560, NCIT:C34695]
synonym: "cold Sores" RELATED [MESH:D006560]
synonym: "cold sores" RELATED []
synonym: "fever blister" RELATED [MESH:D006560]
synonym: "fever blisters" RELATED [MESH:D006560]
synonym: "herpes labialis" EXACT []
synonym: "herpes simplex labialis" RELATED []
synonym: "Herpes simplex, labial" RELATED [MESH:D006560]
synonym: "labial Herpes simplex" RELATED [MESH:D006560]
synonym: "Sore, cold" RELATED [MESH:D006560]
synonym: "Sores, cold" RELATED [MESH:D006560]
xref: EFO:1001347 {source="MONDO:equivalentTo"}
xref: MESH:D006560 {source="MONDO:equivalentTo"}
xref: NCIT:C34695 {source="MONDO:equivalentTo"}
xref: SCTID:1475003 {source="MONDO:equivalentTo"}
xref: UMLS:C0019345 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34695"}
is_a: MONDO:0004609 {source="MESH:D006560", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! herpes simplex infectious disease
is_a: MONDO:0004748 {source="MESH:D006560", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! lip disease
is_a: MONDO:0043424 ! digestive system infectious disease
property_value: exactMatch http://identifiers.org/mesh/D006560
property_value: exactMatch http://identifiers.org/snomedct/1475003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0019345
property_value: exactMatch NCIT:C34695

[Term]
id: MONDO:0043678
name: chromosome inversion
def: "A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." [NCIT:C6827]
synonym: "chromosomal inversion" EXACT [MESH:D007446, NCIT:C6827]
synonym: "chromosomal Inversions" RELATED [MESH:D007446]
synonym: "chromosome Inversions" RELATED [MESH:D007446]
synonym: "inv" EXACT [NCIT:C6827]
synonym: "inversion" EXACT [NCIT:C6827]
synonym: "inversion, chromosomal" RELATED [MESH:D007446]
synonym: "inversion, chromosome" RELATED [MESH:D007446]
synonym: "Inversions, chromosomal" RELATED [MESH:D007446]
synonym: "Inversions, chromosome" RELATED [MESH:D007446]
synonym: "inverted chromosome" EXACT [NCIT:C6827]
xref: MESH:D007446 {source="MONDO:equivalentTo"}
xref: NCIT:C6827 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal anomaly
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021943
property_value: exactMatch http://identifiers.org/mesh/D007446
property_value: exactMatch NCIT:C6827

[Term]
id: MONDO:0043683
name: Leriche syndrome
def: "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." [NCIT:C34773]
synonym: "Leriche syndrome" EXACT [NCIT:C34773]
synonym: "Leriche's syndrome" RELATED [MESH:D007925]
synonym: "leriche's syndrome" EXACT []
synonym: "Leriches syndrome" RELATED [MESH:D007925]
synonym: "syndrome, Leriche" RELATED [MESH:D007925]
synonym: "syndrome, Leriche's" RELATED [MESH:D007925]
xref: MESH:D007925 {source="MONDO:equivalentTo"}
xref: NCIT:C34773 {source="MONDO:equivalentTo"}
xref: SCTID:307816004 {source="MONDO:equivalentTo"}
xref: UMLS:C0023370 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34773"}
is_a: MONDO:0002254 {source="MONDOLEX:0043683", source="NCIT:C34773"} ! syndromic disease
is_a: MONDO:0005561 {source="MESH:D007925", source="linkedlifedata/inferred"} ! aortic disease
property_value: exactMatch http://identifiers.org/mesh/D007925
property_value: exactMatch http://identifiers.org/snomedct/307816004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023370
property_value: exactMatch NCIT:C34773

[Term]
id: MONDO:0043693
name: alcoholic liver diseases
def: "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." [NCIT:C34783]
synonym: "alcoholic liver damage" NARROW []
synonym: "alcoholic liver disease" EXACT [MESH:D008108, NCIT:C34783]
synonym: "alcoholic liver diseases" EXACT [MESH:D008108]
synonym: "liver disease, alcoholic" RELATED [MESH:D008108]
xref: EFO:0008573 {source="MONDO:equivalentTo"}
xref: MESH:D008108 {source="MONDO:equivalentTo"}
xref: NCIT:C34783 {source="MONDO:equivalentTo"}
xref: SCTID:41309000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="EFO:0008573", source="MESH:D008108", source="MONDO:Redundant", source="NCIT:C34783/inferred", source="linkedlifedata/inferred"} ! liver disease
is_a: MONDO:0021699 {source="MESH:D008108", source="linkedlifedata"} ! alcohol-induced disorders
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023896
property_value: exactMatch http://identifiers.org/mesh/D008108
property_value: exactMatch http://identifiers.org/snomedct/41309000
property_value: exactMatch NCIT:C34783

[Term]
id: MONDO:0043707
name: mediastinal disease
def: "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." [NCIT:C26826]
synonym: "disease of mediastinum" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of mediastinum" EXACT []
synonym: "disease, mediastinal" RELATED [MESH:D008477]
synonym: "diseases, mediastinal" RELATED [MESH:D008477]
synonym: "disorder of mediastinum" EXACT [MONDO:patterns/location_top]
synonym: "disorder of mediastinum" RELATED [MONDO:patterns/location_top]
synonym: "mediastinal disease" EXACT [NCIT:C26826]
synonym: "mediastinal disorder" EXACT [NCIT:C26826]
synonym: "mediastinum disease" EXACT [MONDO:design_pattern]
synonym: "mediastinum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MESH:D008477 {source="MONDO:equivalentTo"}
xref: NCIT:C26826 {source="MONDO:equivalentTo"}
xref: SCTID:49483002 {source="MONDO:equivalentTo"}
xref: UMLS:C0025061 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26826"}
is_a: MONDO:0000651 {source="MESH:D008477", source="MONDO:Redundant", source="NCIT:C26826", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease
is_a: MONDO:0021199 {source="linkedlifedata"} ! disease by anatomical system
property_value: exactMatch http://identifiers.org/mesh/D008477
property_value: exactMatch http://identifiers.org/snomedct/49483002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0025061
property_value: exactMatch NCIT:C26826

[Term]
id: MONDO:0043723
name: Monteggia's fracture
def: "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." [MESH:D009011]
synonym: "fracture, Monteggia's" RELATED [MESH:D009011]
synonym: "Monteggia fracture" RELATED [MESH:D009011]
synonym: "monteggia fracture" RELATED []
synonym: "monteggia fracture dislocation" RELATED []
synonym: "monteggia's dislocation" RELATED []
synonym: "monteggia's fracture" EXACT []
synonym: "Monteggias fracture" RELATED [MESH:D009011]
xref: EFO:1001373 {source="MONDO:equivalentTo"}
xref: MESH:D009011 {source="MONDO:equivalentTo"}
xref: SCTID:123973009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005322 {source="MESH:D009011", source="linkedlifedata/inferred"} ! ulna fracture
property_value: exactMatch http://identifiers.org/mesh/D009011
property_value: exactMatch http://identifiers.org/snomedct/123973009

[Term]
id: MONDO:0043726
name: multiple organ dysfunction syndrome
def: "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." [https://www.ncbi.nlm.nih.gov/books/NBK6868/]
synonym: "failure, multiple organ" RELATED [MESH:D009102]
synonym: "MODS" RELATED [MESH:D009102]
synonym: "multi-organ failure" RELATED []
synonym: "multiorgan failure" EXACT []
synonym: "multiple organ dysfunction syndrome" RELATED [MESH:D009102]
synonym: "multiple organ failure" EXACT []
synonym: "multiple organ failures" RELATED [MESH:D009102]
synonym: "multiple organ system failure" EXACT []
synonym: "multiple organ systems failure" RELATED []
synonym: "multiple systems organ failure" RELATED []
synonym: "multisystem organ failure" RELATED []
synonym: "organ dysfunction syndrome, multiple" RELATED [MESH:D009102]
synonym: "organ failure, multiple" RELATED [MESH:D009102]
xref: MESH:D009102 {source="MONDO:equivalentTo"}
xref: SCTID:57653000 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0043726"} ! syndromic disease
property_value: exactMatch http://identifiers.org/mesh/D009102
property_value: exactMatch http://identifiers.org/snomedct/57653000

[Term]
id: MONDO:0043731
name: lytic metastatic bone lesion
def: "Dissolution of bone that particularly involves the removal or loss of calcium." [MESH:D010014]
comment: Editor note: finding in NCIT
synonym: "lytic metastatic bone lesion" EXACT [NCIT:C35371]
synonym: "Osteolyses" RELATED [MESH:D010014]
synonym: "osteolysis" EXACT []
synonym: "osteolytic lesion" EXACT [NCIT:C35371]
xref: EFO:1001821 {source="MONDO:equivalentTo"}
xref: MESH:D010014 {source="MONDO:equivalentTo"}
xref: NCIT:C35371 {source="MONDO:equivalentTo"}
xref: SCTID:203522001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000837 {source="MESH:D010014"} ! bone resorption disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0302313
property_value: exactMatch http://identifiers.org/mesh/D010014
property_value: exactMatch http://identifiers.org/snomedct/203522001
property_value: exactMatch NCIT:C35371

[Term]
id: MONDO:0043735
name: osteoradionecrosis
def: "Necrosis of bone following radiation injury." [MESH:D010025]
synonym: "Osteoradionecroses" RELATED [MESH:D010025]
synonym: "osteoradionecrosis" EXACT []
synonym: "radiation necrosis of bone" RELATED []
xref: MESH:D010025 {source="MONDO:equivalentTo"}
xref: NCIT:C63707 {source="MONDO:equivalentTo"}
xref: SCTID:109333005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005380 {source="MONDO:Redundant", source="NCIT:C63707", source="linkedlifedata"} ! osteonecrosis
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029461
property_value: exactMatch http://identifiers.org/mesh/D010025
property_value: exactMatch http://identifiers.org/snomedct/109333005
property_value: exactMatch NCIT:C63707

[Term]
id: MONDO:0043759
name: abdominal ectopic pregnancy
def: "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." [NCIT:C92921]
synonym: "abdomen ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "abdominal Pregnancies" RELATED [MESH:D011269]
synonym: "abdominal pregnancy" EXACT [MESH:D011269, NCIT:C92921]
synonym: "ectopic pregnancy of abdomen" EXACT [MONDO:design_pattern]
synonym: "intra-abdominal pregnancy" EXACT [NCIT:C92921]
synonym: "Pregnancies, abdominal" RELATED [MESH:D011269]
xref: MESH:D011269 {source="MONDO:equivalentTo"}
xref: NCIT:C92921 {source="MONDO:equivalentTo"}
xref: SCTID:82661006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000755 {source="MESH:D011269", source="MONDO:Redundant", source="NCIT:C92921", source="linkedlifedata"} ! ectopic pregnancy
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032984
property_value: exactMatch http://identifiers.org/mesh/D011269
property_value: exactMatch http://identifiers.org/snomedct/82661006
property_value: exactMatch NCIT:C92921

[Term]
id: MONDO:0043762
name: tubal pregnancy
def: "An abnormal pregnancy in which the conception is implanted in the fallopian tube." [NCIT:C92946]
synonym: "ectopic pregnancy of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian pregnancy" RELATED []
synonym: "fallopian tube ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "fallopian tube pregnancy" RELATED []
synonym: "Pregnancies, tubal" RELATED [MESH:D011274]
synonym: "tubal Pregnancies" RELATED [MESH:D011274]
synonym: "tubal pregnancy" EXACT [MESH:D011274, NCIT:C92946]
xref: MESH:D011274 {source="MONDO:equivalentTo"}
xref: NCIT:C92946 {source="MONDO:equivalentTo"}
xref: SCTID:79586000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000755 {source="MESH:D011274", source="MONDO:Redundant", source="NCIT:C92946", source="linkedlifedata"} ! ectopic pregnancy
is_a: MONDO:0002156 {source="MONDO:Redundant", source="linkedlifedata"} ! fallopian tube disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032994
property_value: exactMatch http://identifiers.org/mesh/D011274
property_value: exactMatch http://identifiers.org/snomedct/79586000
property_value: exactMatch NCIT:C92946

[Term]
id: MONDO:0043765
name: presbycusis
def: "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." [NCIT:C116367]
synonym: "age-related hearing loss" RELATED []
synonym: "presbyacusia" RELATED []
synonym: "Presbycuses" RELATED [MESH:D011304]
synonym: "presbycusis" EXACT [NCIT:C116367]
synonym: "senile deafness" RELATED []
xref: MESH:D011304 {source="MONDO:equivalentTo"}
xref: NCIT:C116367 {source="MONDO:equivalentTo"}
xref: SCTID:49526009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="MESH:D011304/inferred", source="NCIT:C116367", source="linkedlifedata/inferred"} ! hearing loss disorder
relationship: has_modifier MONDO:0021141 ! acquired
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0033074
property_value: exactMatch http://identifiers.org/mesh/D011304
property_value: exactMatch http://identifiers.org/snomedct/49526009
property_value: exactMatch NCIT:C116367

[Term]
id: MONDO:0043768
name: thrombocytopenic purpura
def: "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." [NCIT:C26870]
synonym: "purpura, Thrombopenic" RELATED [MESH:D011696]
synonym: "Purpuras, thrombocytopenic" RELATED [MESH:D011696]
synonym: "Purpuras, Thrombopenic" RELATED [MESH:D011696]
synonym: "thrombocytopenic purpura" EXACT [MESH:D011696, NCIT:C26870]
synonym: "thrombocytopenic Purpuras" RELATED [MESH:D011696]
synonym: "Thrombopenic purpura" RELATED [MESH:D011696]
synonym: "Thrombopenic Purpuras" RELATED [MESH:D011696]
xref: MESH:D011696 {source="MONDO:equivalentTo"}
xref: NCIT:C26870 {source="MONDO:equivalentTo"}
xref: SCTID:302873008 {source="MONDO:equivalentTo"}
xref: UMLS:C0857305 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26870", source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="MESH:D011696/inferred", source="linkedlifedata"} ! thrombocytopenia
is_a: MONDO:0002610 {source="MESH:D011696", source="linkedlifedata"} ! purpura (disease)
is_a: MONDO:0005046 {source="MESH:D011696"} ! immune system disease
is_a: MONDO:0019737 {source="MESH:D011696"} ! thrombotic microangiopathy
property_value: exactMatch http://identifiers.org/mesh/D011696
property_value: exactMatch http://identifiers.org/snomedct/302873008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0857305
property_value: exactMatch NCIT:C26870

[Term]
id: MONDO:0043771
name: radiodermatitis
def: "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." [NCIT:C3349]
synonym: "Dermatitides, radiation recall" RELATED [MESH:D011855]
synonym: "Dermatitides, radiation-induced" RELATED [MESH:D011855]
synonym: "dermatitis radiation" EXACT [NCIT:C3349]
synonym: "dermatitis, radiation induced" RELATED [MESH:D011855]
synonym: "dermatitis, radiation recall" RELATED [MESH:D011855]
synonym: "dermatitis, radiation-induced" RELATED [MESH:D011855]
synonym: "radiation dermatitis" EXACT [NCIT:C3349]
synonym: "radiation induced dermatitis" RELATED [MESH:D011855]
synonym: "radiation recall Dermatitides" RELATED [MESH:D011855]
synonym: "radiation recall dermatitis" RELATED [MESH:D011855]
synonym: "radiation recall reaction" RELATED [MESH:D011855]
synonym: "radiation recall reactions" RELATED [MESH:D011855]
synonym: "radiation-induced Dermatitides" RELATED [MESH:D011855]
synonym: "radiation-induced dermatitis" EXACT [NCIT:C3349]
synonym: "Radiodermatitides" RELATED [MESH:D011855]
synonym: "radiodermatitis" EXACT [NCIT:C3349]
synonym: "reaction, radiation recall" RELATED [MESH:D011855]
synonym: "reactions, radiation recall" RELATED [MESH:D011855]
synonym: "recall reaction, radiation" RELATED [MESH:D011855]
synonym: "recall reactions, radiation" RELATED [MESH:D011855]
xref: EFO:1001840 {source="MONDO:equivalentTo"}
xref: MESH:D011855 {source="MONDO:equivalentTo"}
xref: NCIT:C3349 {source="MONDO:equivalentTo"}
xref: SCTID:49084001 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="MESH:D011855", source="MONDO:Redundant", source="NCIT:C3349"} ! dermatitis
is_a: MONDO:0043459 ! radiation-induced disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0034561
property_value: exactMatch http://identifiers.org/mesh/D011855
property_value: exactMatch http://identifiers.org/snomedct/49084001
property_value: exactMatch NCIT:C3349

[Term]
id: MONDO:0043775
name: respiratory paralysis
def: "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders." [MESH:D012133]
synonym: "diaphragmatic paralysis" RELATED [MESH:D012133]
synonym: "muscle paralyses, respiratory" RELATED [MESH:D012133]
synonym: "muscle paralysis, respiratory" RELATED [MESH:D012133]
synonym: "paralysis of diaphragm" EXACT []
synonym: "paralysis, diaphragmatic" RELATED [MESH:D012133]
synonym: "paralysis, respiratory" RELATED [MESH:D012133]
synonym: "paralysis, respiratory muscle" RELATED [MESH:D012133]
synonym: "respiratory muscle paralysis" RELATED [MESH:D012133]
xref: MESH:D012133 {source="MONDO:equivalentTo"}
xref: SCTID:64228003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005728 {source="linkedlifedata"} ! diaphragm disease
is_a: MONDO:0006496 {source="MESH:D012133"} ! palsy
is_a: MONDO:0021113 {source="MESH:D012133"} ! respiratory failure
property_value: exactMatch http://identifiers.org/mesh/D012133
property_value: exactMatch http://identifiers.org/snomedct/64228003

[Term]
id: MONDO:0043777
name: rhinophyma
def: "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." [NCIT:C34989]
synonym: "hypertrophic rosacea" RELATED []
synonym: "rhinophyma" EXACT [NCIT:C34989]
synonym: "Rhinophymas" RELATED [MESH:D012224]
xref: MESH:D012224 {source="MONDO:equivalentTo"}
xref: NCIT:C34989 {source="MONDO:equivalentTo"}
xref: SCTID:19877001 {source="MONDO:equivalentTo"}
xref: UMLS:C0035466 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34989"}
is_a: MONDO:0006604 {source="MESH:D012224"} ! rosacea
is_a: MONDO:0006607 {source="MESH:D012224"} ! sebaceous gland disease
property_value: exactMatch http://identifiers.org/mesh/D012224
property_value: exactMatch http://identifiers.org/snomedct/19877001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035466
property_value: exactMatch NCIT:C34989

[Term]
id: MONDO:0043783
name: sclerema neonatorum
def: "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." [NCIT:C35009]
synonym: "sclerema adiposum" RELATED []
synonym: "sclerema neonatorum" EXACT [NCIT:C35009]
synonym: "underwood's disease" RELATED []
xref: MESH:D012593 {source="MONDO:equivalentTo"}
xref: NCIT:C35009 {source="MONDO:equivalentTo"}
xref: SCTID:206539008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="MESH:D012593/inferred", source="linkedlifedata/inferred"} ! skin disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036415
property_value: exactMatch http://identifiers.org/mesh/D012593
property_value: exactMatch http://identifiers.org/snomedct/206539008
property_value: exactMatch NCIT:C35009

[Term]
id: MONDO:0043786
name: serositis
def: "Inflammation of a serous membrane." [NCIT:C70428]
synonym: "inflammation of serous membrane" EXACT []
synonym: "Serositides" RELATED [MESH:D012700]
synonym: "serositis" EXACT [NCIT:C70428]
synonym: "serous membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MESH:D012700 {source="MONDO:equivalentTo"}
xref: NCIT:C70428 {source="MONDO:equivalentTo"}
xref: SCTID:370469003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0036749
property_value: exactMatch http://identifiers.org/mesh/D012700
property_value: exactMatch http://identifiers.org/snomedct/370469003
property_value: exactMatch NCIT:C70428

[Term]
id: MONDO:0043789
name: serum sickness
def: "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction." [NCIT:C79718]
synonym: "intoxication by serum" RELATED []
synonym: "protein sickness" RELATED []
synonym: "serum reaction" RELATED []
synonym: "serum sickness" EXACT [NCIT:C79718]
synonym: "serum Sicknesses" RELATED [MESH:D012713]
synonym: "sickness, serum" RELATED [MESH:D012713]
synonym: "Sicknesses, serum" RELATED [MESH:D012713]
synonym: "transfusion reaction due to serum protein reaction" EXACT []
xref: EFO:1001845 {source="MONDO:equivalentTo"}
xref: MESH:D012713 {source="MONDO:equivalentTo"}
xref: NCIT:C79718 {source="MONDO:equivalentTo"}
xref: SCTID:72284000 {source="MONDO:equivalentTo"}
xref: UMLS:C0036830 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C79718", source="MONDO:equivalentTo"}
is_a: MONDO:0002459 {source="NCIT:C79718"} ! type IV hypersensitivity disease
is_a: MONDO:0007004 {source="MESH:D012713"} ! type III hypersensitivity disease
property_value: exactMatch http://identifiers.org/mesh/D012713
property_value: exactMatch http://identifiers.org/snomedct/72284000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0036830
property_value: exactMatch NCIT:C79718

[Term]
id: MONDO:0043797
name: spinal cord injury
def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." [MESH:D013119]
synonym: "contusion, spinal cord" RELATED [MESH:D013119]
synonym: "Contusions, spinal cord" RELATED [MESH:D013119]
synonym: "cord contusion, spinal" RELATED [MESH:D013119]
synonym: "cord Contusions, spinal" RELATED [MESH:D013119]
synonym: "cord Injuries, spinal" RELATED [MESH:D013119]
synonym: "cord injury, spinal" RELATED [MESH:D013119]
synonym: "cord laceration, spinal" RELATED [MESH:D013119]
synonym: "cord Lacerations, spinal" RELATED [MESH:D013119]
synonym: "cord transection, spinal" RELATED [MESH:D013119]
synonym: "cord Transections, spinal" RELATED [MESH:D013119]
synonym: "cord trauma, spinal" RELATED [MESH:D013119]
synonym: "cord Traumas, spinal" RELATED [MESH:D013119]
synonym: "Injuries, spinal cord" RELATED [MESH:D013119]
synonym: "injury of spinal cord" EXACT [MONDO:design_pattern]
synonym: "injury, spinal cord" RELATED [MESH:D013119]
synonym: "laceration, spinal cord" RELATED [MESH:D013119]
synonym: "Lacerations, spinal cord" RELATED [MESH:D013119]
synonym: "Myelopathies, post-traumatic" RELATED [MESH:D013119]
synonym: "Myelopathies, traumatic" RELATED [MESH:D013119]
synonym: "myelopathy, post-traumatic" RELATED [MESH:D013119]
synonym: "myelopathy, traumatic" RELATED [MESH:D013119]
synonym: "post traumatic myelopathy" RELATED [MESH:D013119]
synonym: "post-traumatic Myelopathies" RELATED [MESH:D013119]
synonym: "post-traumatic myelopathy" RELATED [MESH:D013119]
synonym: "spinal cord contusion" RELATED [MESH:D013119]
synonym: "spinal cord Contusions" RELATED [MESH:D013119]
synonym: "spinal cord injury" EXACT [MESH:D013119, MONDO:patterns/location]
synonym: "spinal cord laceration" RELATED [MESH:D013119]
synonym: "spinal cord Lacerations" RELATED [MESH:D013119]
synonym: "spinal cord transection" RELATED [MESH:D013119]
synonym: "spinal cord Transections" RELATED [MESH:D013119]
synonym: "spinal cord trauma" RELATED [MESH:D013119]
synonym: "spinal cord Traumas" RELATED [MESH:D013119]
synonym: "transection, spinal cord" RELATED [MESH:D013119]
synonym: "Transections, spinal cord" RELATED [MESH:D013119]
synonym: "trauma, spinal cord" RELATED [MESH:D013119]
synonym: "Traumas, spinal cord" RELATED [MESH:D013119]
synonym: "traumatic Myelopathies" RELATED [MESH:D013119]
synonym: "traumatic myelopathy" RELATED [MESH:D013119]
xref: EFO:1001919 {source="MONDO:equivalentTo"}
xref: MESH:D013119 {source="MONDO:equivalentTo"}
xref: SCTID:90584004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002545 {source="MESH:D013119", source="MONDO:Redundant", source="linkedlifedata"} ! spinal cord disease
is_a: MONDO:0037747 {source="linkedlifedata"} ! spinal injury
is_a: MONDO:0044745 ! nervous system injury
property_value: exactMatch http://identifiers.org/mesh/D013119
property_value: exactMatch http://identifiers.org/snomedct/90584004

[Term]
id: MONDO:0043836
name: tuberculosis, spinal
def: "Tuberculosis of the vertebrae." [NCIT:C35087]
synonym: "disease, pott" RELATED [MESH:D014399]
synonym: "disease, pott's" RELATED [MESH:D014399]
synonym: "pott disease" EXACT [NCIT:C35087]
synonym: "pott's disease" EXACT [MESH:D014399, NCIT:C35087]
synonym: "pott's paraplegia" RELATED [MESH:D014399]
synonym: "Potts disease" RELATED [MESH:D014399]
synonym: "spinal Tuberculoses" RELATED [MESH:D014399]
synonym: "spinal tuberculosis" RELATED [MESH:D014399]
synonym: "Tuberculoses, spinal" RELATED [MESH:D014399]
synonym: "tuberculosis of spine (pott's)" RELATED []
synonym: "tuberculosis of vertebral column" EXACT []
synonym: "tuberculosis of vertebral column - pott's" RELATED []
synonym: "tuberculous spondylitis" RELATED []
xref: MESH:D014399 {source="MONDO:equivalentTo"}
xref: NCIT:C35087 {source="MONDO:equivalentTo"}
xref: SCTID:35984006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 {source="MESH:D014399/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! vertebral column disease
is_a: MONDO:0005962 {source="MESH:D014399", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! skeletal tuberculosis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041330
property_value: exactMatch http://identifiers.org/mesh/D014399
property_value: exactMatch http://identifiers.org/snomedct/35984006
property_value: exactMatch NCIT:C35087

[Term]
id: MONDO:0043839
name: ulcer disease
def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456]
synonym: "ulcer" EXACT [MESH:D014456]
synonym: "ulcerated" RELATED [NCIT:C3426]
synonym: "ulceration" EXACT [NCIT:C3426]
synonym: "ulcerative" EXACT [NCIT:C3426]
synonym: "ulcers" EXACT [MESH:D014456]
xref: MESH:D014456 {source="MONDO:equivalentTo"}
xref: NCIT:C3426 {source="MONDO:equivalentTo"}
xref: SCTID:429040005 {source="MONDO:equivalentTo"}
xref: UMLS:C0041582 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="NCIT:C3426"} ! injury
property_value: exactMatch http://identifiers.org/mesh/D014456
property_value: exactMatch http://identifiers.org/snomedct/429040005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041582
property_value: exactMatch NCIT:C3426

[Term]
id: MONDO:0043862
name: voice disorders
def: "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." [NCIT:C3441]
synonym: "neurologic dysphonia" RELATED []
synonym: "neurologic voice disorder" EXACT []
synonym: "voice disorder" EXACT [NCIT:C3441]
xref: MESH:D014832 {source="MONDO:equivalentTo"}
xref: NCIT:C3441 {source="MONDO:equivalentTo"}
xref: SCTID:71941009 {source="MONDO:equivalentTo"}
is_a: MONDO:0004382 {source="MESH:D014832", source="NCIT:C3441/inferred"} ! laryngeal disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042940
property_value: exactMatch http://identifiers.org/mesh/D014832
property_value: exactMatch http://identifiers.org/snomedct/71941009
property_value: exactMatch NCIT:C3441

[Term]
id: MONDO:0043875
name: tumor lysis syndrome
def: "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." [NCIT:C3425]
synonym: "syndrome, tumor lysis" RELATED [MESH:D015275]
synonym: "syndrome, tumour lysis" RELATED [MESH:D015275]
synonym: "syndromes, tumor lysis" RELATED [MESH:D015275]
synonym: "syndromes, tumour lysis" RELATED [MESH:D015275]
synonym: "tumor lysis syndrome" EXACT [NCIT:C3425]
synonym: "tumor lysis syndromes" RELATED [MESH:D015275]
synonym: "tumour lysis syndrome" RELATED [MESH:D015275]
synonym: "tumour lysis syndromes" RELATED [MESH:D015275]
xref: EFO:1001479 {source="MONDO:equivalentTo"}
xref: MESH:D015275 {source="MONDO:equivalentTo"}
xref: NCIT:C3425 {source="MONDO:equivalentTo"}
xref: SCTID:277605001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041364 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C3425"}
is_a: MONDO:0016537 {source="MESH:D015275"} ! lymphoproliferative syndrome
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0021058 {source="NCIT:C3425", source="indirect"} ! neoplastic syndrome
property_value: exactMatch http://identifiers.org/mesh/D015275
property_value: exactMatch http://identifiers.org/snomedct/277605001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0041364
property_value: exactMatch NCIT:C3425

[Term]
id: MONDO:0043878
name: hereditary optic atrophy
def: "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." [NCIT:C34864]
synonym: "Atrophies, hereditary optic" RELATED [MESH:D015418]
synonym: "atrophy, hereditary optic" RELATED [MESH:D015418]
synonym: "hereditary optic Atrophies" RELATED [MESH:D015418]
synonym: "hereditary optic atrophy" EXACT [MESH:D015418, MONDO:patterns/hereditary, NCIT:C34864]
synonym: "optic atrophy, hereditary" RELATED [MESH:D015418]
xref: MESH:D015418 {source="MONDO:equivalentTo"}
xref: NCIT:C34864 {source="MONDO:equivalentTo"}
xref: SCTID:26360005 {source="MONDO:equivalentTo"}
xref: UMLS:C0029125 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C34864"}
is_a: MONDO:0001084 {source="linkedlifedata"} ! primary optic atrophy
is_a: MONDO:0024237 {source="MESH:D015418", source="MONDO:Redundant"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0003608 ! optic atrophy
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/mesh/D015418
property_value: exactMatch http://identifiers.org/snomedct/26360005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0029125
property_value: exactMatch NCIT:C34864

[Term]
id: MONDO:0043881
name: obsolete acute eosinophilic leukemia
def: "A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" [NCIT:C26813]
synonym: "acute eosinophilic leukemia" EXACT [MESH:D015472, NCIT:C26813]
synonym: "acute eosinophilic leukemias" RELATED [MESH:D015472]
synonym: "eosinophilic leukemia, acute" RELATED [MESH:D015472]
synonym: "eosinophilic leukemias, acute" RELATED [MESH:D015472]
synonym: "leukemia, acute eosinophilic" RELATED [MESH:D015472]
synonym: "leukemias, acute eosinophilic" RELATED [MESH:D015472]
xref: EFO:1001888 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D015472 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C26813 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:277604002 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:C0023439 {source="MEDGEN:kboom-pr98-c99", source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26813"}
property_value: exactMatch http://identifiers.org/mesh/D015472
property_value: exactMatch http://identifiers.org/snomedct/277604002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0023439
property_value: exactMatch NCIT:C26813
is_obsolete: true

[Term]
id: MONDO:0043885
name: eye infectious disease
def: "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." [NCIT:C45372]
synonym: "eye infection" EXACT [MESH:D015817, NCIT:C45372]
synonym: "infection, eye" RELATED [MESH:D015817]
synonym: "infection, ocular" RELATED [MESH:D015817]
synonym: "infections, eye" RELATED [MESH:D015817]
synonym: "infections, ocular" RELATED [MESH:D015817]
synonym: "ocular infection" RELATED [MESH:D015817]
synonym: "ocular infections" RELATED [MESH:D015817]
xref: MESH:D015817 {source="MONDO:equivalentTo"}
xref: NCIT:C45372 {source="MONDO:equivalentTo"}
xref: SCTID:128351009 {source="MONDO:equivalentTo"}
xref: UMLS:C0015403 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C45372", source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="MESH:D015817", source="NCIT:C45372/inferred", source="linkedlifedata"} ! eye disease
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/mesh/D015817
property_value: exactMatch http://identifiers.org/snomedct/128351009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0015403
property_value: exactMatch NCIT:C45372

[Term]
id: MONDO:0043892
name: prosthesis-related infectious disease
def: "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." [NCIT:C79705]
synonym: "device related infection" EXACT [NCIT:C79705]
synonym: "infections, prosthesis-related" RELATED [MESH:D016459]
synonym: "prosthesis related infections" RELATED [MESH:D016459]
synonym: "prosthesis-related infection" EXACT [MESH:D016459, NCIT:C79705]
xref: EFO:1002021 {source="MONDO:equivalentTo"}
xref: MESH:D016459 {source="MONDO:equivalentTo"}
xref: NCIT:C79705 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="NCIT:C79705/inferred"} ! infectious disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0085073
property_value: exactMatch http://identifiers.org/mesh/D016459
property_value: exactMatch NCIT:C79705

[Term]
id: MONDO:0043895
name: ankle injury
def: "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." [MESH:D016512]
synonym: "ankle injury" EXACT [MESH:D016512]
synonym: "ankle sprain" RELATED [MESH:D016512]
synonym: "ankle Sprains" RELATED [MESH:D016512]
synonym: "Injuries, ankle" RELATED [MESH:D016512]
synonym: "Injuries, syndesmotic" RELATED [MESH:D016512]
synonym: "injury of ankle" EXACT []
synonym: "injury of tarsal region" EXACT []
synonym: "injury, ankle" RELATED [MESH:D016512]
synonym: "injury, syndesmotic" RELATED [MESH:D016512]
synonym: "sprain, ankle" RELATED [MESH:D016512]
synonym: "Sprains, ankle" RELATED [MESH:D016512]
synonym: "syndesmotic Injuries" RELATED [MESH:D016512]
synonym: "syndesmotic injury" RELATED [MESH:D016512]
synonym: "tarsal region injury" EXACT [MONDO:patterns/location]
xref: EFO:1001832 {source="MONDO:equivalentTo"}
xref: MESH:D016512 {source="MONDO:equivalentTo"}
xref: SCTID:125603006 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 ! injury
is_a: MONDO:0044989 ! foot disease
property_value: exactMatch http://identifiers.org/mesh/D016512
property_value: exactMatch http://identifiers.org/snomedct/125603006

[Term]
id: MONDO:0043904
name: leishmaniasis, diffuse cutaneous
def: "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." [MESH:D016774]
synonym: "cheloid leishmaniasis" RELATED []
synonym: "cutaneous Leishmaniases, diffuse" RELATED [MESH:D016774]
synonym: "cutaneous leishmaniasis, diffuse" RELATED [MESH:D016774]
synonym: "dcl - diffuse cutaneous leishmaniasis" RELATED []
synonym: "diffuse cutaneous Leishmaniases" RELATED [MESH:D016774]
synonym: "diffuse cutaneous leishmaniasis" EXACT []
synonym: "Leishmaniases, diffuse cutaneous" RELATED [MESH:D016774]
synonym: "leproid leishmaniasis" RELATED []
synonym: "lepromatous cutaneous leishmaniasis" RELATED []
xref: MESH:D016774 {source="MONDO:equivalentTo"}
xref: SCTID:38573008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005446 {source="MESH:D016774", source="MONDOLEX:0043904"} ! cutaneous leishmaniasis
property_value: exactMatch http://identifiers.org/mesh/D016774
property_value: exactMatch http://identifiers.org/snomedct/38573008

[Term]
id: MONDO:0043905
name: pneumonitis
def: "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia." [NCIT:C113159]
comment: Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious
synonym: "inflammation of lung parenchyma" EXACT []
synonym: "lung parenchyma inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pneumonitis" EXACT [NCIT:C113159]
xref: NCIT:C113159 {source="MONDO:equivalentTo"}
xref: SCTID:205237003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005275 {source="MONDO:Redundant", source="NCIT:C113159/inferred", source="linkedlifedata"} ! lung disease
is_a: MONDO:0021166 ! inflammatory disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714636
property_value: exactMatch http://identifiers.org/snomedct/205237003
property_value: exactMatch NCIT:C113159

[Term]
id: MONDO:0043919
name: radiation pneumonitis
def: "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." [MESH:D017564]
synonym: "fibrosis, radiation" RELATED [MESH:D017564]
synonym: "pneumonia, radiation" RELATED [MESH:D017564]
synonym: "Pneumonias, radiation" RELATED [MESH:D017564]
synonym: "Pneumonitides, radiation" RELATED [MESH:D017564]
synonym: "pneumonitis, radiation" RELATED [MESH:D017564]
synonym: "pulmonary radiation alveolitis" RELATED []
synonym: "radiation fibrosis" RELATED [MESH:D017564]
synonym: "radiation pneumonia" RELATED [MESH:D017564]
synonym: "radiation Pneumonias" RELATED [MESH:D017564]
synonym: "radiation Pneumonitides" RELATED [MESH:D017564]
synonym: "radiation pneumonitis" EXACT []
xref: EFO:0008517 {source="MONDO:equivalentTo"}
xref: MESH:D017564 {source="MONDO:equivalentTo"}
xref: SCTID:84004001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015925 {source="MESH:D017564"} ! interstitial lung disease
is_a: MONDO:0043459 ! radiation-induced disorder
is_a: MONDO:0043905 ! pneumonitis
property_value: exactMatch http://identifiers.org/mesh/D017564
property_value: exactMatch http://identifiers.org/snomedct/84004001

[Term]
id: MONDO:0043923
name: lichen planus, oral
def: "A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral." [NCIT:C7406]
synonym: "olp - oral lichen planus" RELATED []
synonym: "oral lichen planus" EXACT [MESH:D017676, NCIT:C7406]
xref: EFO:1001415 {source="MONDO:equivalentTo"}
xref: MESH:D017676 {source="MONDO:equivalentTo"}
xref: NCIT:C7406 {source="MONDO:equivalentTo"}
xref: SCTID:235049008 {source="MONDO:equivalentTo"}
xref: UMLS:C0206139 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C7406"}
is_a: MONDO:0006572 {source="MESH:D017676", source="MONDOLEX:0043923", source="NCIT:C7406", source="linkedlifedata/inferred"} ! lichen planus
is_a: MONDO:0006858 {source="MESH:D017676", source="linkedlifedata/inferred"} ! mouth disease
property_value: exactMatch http://identifiers.org/mesh/D017676
property_value: exactMatch http://identifiers.org/snomedct/235049008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0206139
property_value: exactMatch NCIT:C7406

[Term]
id: MONDO:0043953
name: burkholderia infectious disease
def: "Infections with bacteria of the genus Burkholderia." [MESH:D019121]
synonym: "Burkholderia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia disease or disorder" EXACT []
synonym: "Burkholderia infection" RELATED [MESH:D019121]
synonym: "Burkholderia infectious disease" EXACT []
synonym: "burkholderia infectious disease" EXACT []
synonym: "infection caused by Burkholderia" EXACT []
synonym: "infection, Burkholderia" RELATED [MESH:D019121]
synonym: "infections, Burkholderia" RELATED [MESH:D019121]
xref: EFO:1001280 {source="MONDO:equivalentTo"}
xref: MESH:D019121 {source="MONDO:equivalentTo"}
xref: SCTID:721736003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D019121", source="linkedlifedata"} ! gram-negative bacterial infections
property_value: exactMatch http://identifiers.org/mesh/D019121
property_value: exactMatch http://identifiers.org/snomedct/721736003

[Term]
id: MONDO:0043959
name: pseudolymphoma
def: "A neoplastic process that resembles a malignant lymphoma, but has a benign course." [NCIT:C3825]
synonym: "benign lymphoid hyperplasia" RELATED []
synonym: "hyperplasia, reactive lymphoid" RELATED [MESH:D019310]
synonym: "hyperplasias, reactive lymphoid" RELATED [MESH:D019310]
synonym: "lymphocytoma" RELATED [MESH:D019310]
synonym: "lymphocytomas" RELATED [MESH:D019310]
synonym: "lymphoid hyperplasia, reactive" RELATED [MESH:D019310]
synonym: "lymphoid Hyperplasias, reactive" RELATED [MESH:D019310]
synonym: "pseudolymphoma" EXACT [NCIT:C3825]
synonym: "pseudolymphomas" RELATED [MESH:D019310]
synonym: "reactive lymphoid hyperplasia" RELATED [MESH:D019310]
synonym: "reactive lymphoid Hyperplasias" RELATED [MESH:D019310]
xref: EFO:1001414 {source="MONDO:equivalentTo"}
xref: MESH:D019310 {source="MONDO:equivalentTo"}
xref: NCIT:C3825 {source="MONDO:equivalentTo"}
xref: SCTID:19750001 {source="MONDO:equivalentTo"}
xref: UMLS:C0221269 {source="NCIT:C3825", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005833 {source="MESH:D019310"} ! lymphatic system disease
property_value: exactMatch http://identifiers.org/mesh/D019310
property_value: exactMatch http://identifiers.org/snomedct/19750001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221269
property_value: exactMatch NCIT:C3825

[Term]
id: MONDO:0043969
name: nocturnal paroxysmal dystonia
def: "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" [MESH:D020183]
synonym: "dystonia, hypnogenic paroxysmal" RELATED [MESH:D020183]
synonym: "dystonia, nocturnal paroxysmal" RELATED [MESH:D020183]
synonym: "dystonia, nocturnal, paroxysmal" RELATED [MESH:D020183]
synonym: "dystonia, sleep-related" RELATED [MESH:D020183]
synonym: "dystonias, hypnogenic paroxysmal" RELATED [MESH:D020183]
synonym: "dystonias, nocturnal paroxysmal" RELATED [MESH:D020183]
synonym: "dystonias, sleep-related" RELATED [MESH:D020183]
synonym: "hypnogenic paroxysmal dystonia" RELATED [MESH:D020183]
synonym: "hypnogenic paroxysmal dystonias" RELATED [MESH:D020183]
synonym: "nocturnal paroxysmal dystonias" RELATED [MESH:D020183]
synonym: "paroxysmal dystonia, hypnogenic" RELATED [MESH:D020183]
synonym: "paroxysmal dystonia, nocturnal" RELATED [MESH:D020183]
synonym: "paroxysmal dystonias, hypnogenic" RELATED [MESH:D020183]
synonym: "paroxysmal dystonias, nocturnal" RELATED [MESH:D020183]
synonym: "sleep related dystonia" RELATED [MESH:D020183]
synonym: "sleep-related dystonia" EXACT []
synonym: "sleep-related dystonia" RELATED [MESH:D020183]
synonym: "sleep-related dystonias" RELATED [MESH:D020183]
xref: EFO:1001772 {source="MONDO:equivalentTo"}
xref: MESH:D020183 {source="MONDO:equivalentTo"}
xref: SCTID:230500006 {source="MONDO:equivalentTo"}
xref: UMLS:C0393777 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="linkedlifedata"} ! dystonic disorder
is_a: MONDO:0100081 ! sleep disorder
property_value: exactMatch http://identifiers.org/mesh/D020183
property_value: exactMatch http://identifiers.org/snomedct/230500006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393777

[Term]
id: MONDO:0043975
name: autonomic dysreflexia
def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [MESH:D020211]
synonym: "autonomic dysreflexia" EXACT []
synonym: "autonomic Dysreflexia, spinal" RELATED [MESH:D020211]
synonym: "autonomic Dysreflexias" RELATED [MESH:D020211]
synonym: "autonomic Dysreflexias, spinal" RELATED [MESH:D020211]
synonym: "autonomic hyperreflexia" RELATED [MESH:D020211]
synonym: "autonomic Hyperreflexias" RELATED [MESH:D020211]
synonym: "dysreflexia" RELATED []
synonym: "Dysreflexia, autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexia, spinal autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexias, autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexias, spinal autonomic" RELATED [MESH:D020211]
synonym: "hyperreflexia, autonomic" RELATED [MESH:D020211]
synonym: "hyperreflexias, autonomic" RELATED [MESH:D020211]
synonym: "spinal autonomic Dysreflexia" RELATED [MESH:D020211]
synonym: "spinal autonomic Dysreflexias" RELATED [MESH:D020211]
xref: EFO:1001762 {source="MONDO:equivalentTo"}
xref: MESH:D020211 {source="MONDO:equivalentTo"}
xref: SCTID:129618003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238015 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="MESH:D020211", source="linkedlifedata"} ! autonomic nervous system disease
property_value: exactMatch http://identifiers.org/mesh/D020211
property_value: exactMatch http://identifiers.org/snomedct/129618003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0238015

[Term]
id: MONDO:0043982
name: cubital tunnel syndrome
def: "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D020430]
synonym: "cubital tunnel syndrome" EXACT []
synonym: "cubital tunnel syndromes" RELATED [MESH:D020430]
synonym: "syndrome, cubital tunnel" RELATED [MESH:D020430]
synonym: "syndromes, cubital tunnel" RELATED [MESH:D020430]
synonym: "tunnel syndrome, cubital" RELATED [MESH:D020430]
synonym: "tunnel syndromes, cubital" RELATED [MESH:D020430]
synonym: "ulnar nerve compression, cubital tunnel" RELATED [MESH:D020430]
synonym: "ulnar nerve entrapment, elbow" RELATED [MESH:D020430]
xref: EFO:1001363 {source="MONDO:equivalentTo"}
xref: MESH:D020430 {source="MONDO:equivalentTo"}
xref: SCTID:56177003 {source="MONDO:equivalentTo"}
is_a: MONDO:0007006 {source="MESH:D020430", source="MESH:D020430/inferred", source="linkedlifedata/inferred"} ! ulnar neuropathy
property_value: exactMatch http://identifiers.org/mesh/D020430
property_value: exactMatch http://identifiers.org/snomedct/56177003

[Term]
id: MONDO:0043985
name: central nervous system lupus
def: "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." [NCIT:C116919]
synonym: "central nervous system lupus" EXACT [MESH:D020945, NCIT:C116919]
synonym: "central nervous system lupus vasculitis" RELATED [MESH:D020945]
synonym: "central nervous system systemic lupus Erythematosis" RELATED [MESH:D020945]
synonym: "CNS lupus" EXACT [NCIT:C116919]
synonym: "lupus Meningoencephalitides" RELATED [MESH:D020945]
synonym: "lupus meningoencephalitis" RELATED [MESH:D020945]
synonym: "Meningoencephalitides, lupus" RELATED [MESH:D020945]
synonym: "meningoencephalitis, lupus" RELATED [MESH:D020945]
synonym: "neuropsychiatric systemic lupus erythematosus" RELATED [MESH:D020945]
synonym: "systemic lupus Erythematosis, central nervous system" RELATED [MESH:D020945]
xref: EFO:1001453 {source="MONDO:equivalentTo"}
xref: MESH:D020945 {source="MONDO:equivalentTo"}
xref: NCIT:C116919 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 ! autoimmune disease of central nervous system
is_a: MONDO:0007915 {source="MESH:D020945", source="MONDOLEX:0043985"} ! systemic lupus erythematosus (disease)
relationship: excluded_subClassOf MONDO:0003346 {source="MESH:D020945"} ! central nervous system vasculitis
relationship: excluded_subClassOf MONDO:0005845 {source="MESH:D020945", source="MONDOLEX:0043985"} ! meningoencephalitis
property_value: exactMatch http://identifiers.org/mesh/D020945
property_value: exactMatch NCIT:C116919

[Term]
id: MONDO:0043988
name: zoster sine herpete
def: "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." [MESH:D031368]
synonym: "Zoster sine Eruptione" RELATED [MESH:D031368]
synonym: "zoster sine herpete" EXACT []
xref: EFO:1001827 {source="MONDO:equivalentTo"}
xref: MESH:D031368 {source="MONDO:equivalentTo"}
xref: SCTID:449783002 {source="MONDO:equivalentTo"}
xref: UMLS:C1135841 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005609 {source="MESH:D031368", source="linkedlifedata"} ! herpes zoster
property_value: exactMatch http://identifiers.org/mesh/D031368
property_value: exactMatch http://identifiers.org/snomedct/449783002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1135841

[Term]
id: MONDO:0043994
name: acute cholecystitis
def: "Acute inflammation of the gallbladder." [NCIT:C35152]
synonym: "acute cholecystitis" EXACT [MESH:D041881, NCIT:C35152]
xref: MESH:D041881 {source="MONDO:equivalentTo"}
xref: NCIT:C35152 {source="MONDO:equivalentTo"}
xref: SCTID:65275009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002155 {source="MESH:D041881", source="NCIT:C35152"} ! cholecystitis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149520
property_value: exactMatch http://identifiers.org/mesh/D041881
property_value: exactMatch http://identifiers.org/snomedct/65275009
property_value: exactMatch NCIT:C35152

[Term]
id: MONDO:0044001
name: hearing loss, mixed conductive-sensorineural
def: "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." [NCIT:C26974]
synonym: "hearing loss, mixed" RELATED [MESH:D046089]
synonym: "hearing loss, mixed conductive sensorineural" RELATED [MESH:D046089]
synonym: "loss, mixed hearing" RELATED [MESH:D046089]
synonym: "Losses, mixed hearing" RELATED [MESH:D046089]
synonym: "mixed conductive and sensorineural deafness" EXACT [NCIT:C26974]
synonym: "mixed conductive and sensorineural hearing loss" EXACT [NCIT:C26974]
synonym: "mixed deafness" RELATED []
synonym: "mixed hearing loss" EXACT [MESH:D046089, NCIT:C26974]
synonym: "mixed type deafness" RELATED []
xref: EFO:1001803 {source="MONDO:equivalentTo"}
xref: MESH:D046089 {source="MONDO:equivalentTo"}
xref: NCIT:C26974 {source="MONDO:equivalentTo"}
xref: SCTID:77507001 {source="MONDO:equivalentTo"}
xref: UMLS:C0155552 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C26974"}
is_a: MONDO:0005365 {source="MESH:D046089", source="NCIT:C26974", source="linkedlifedata/inferred"} ! hearing loss disorder
property_value: exactMatch http://identifiers.org/mesh/D046089
property_value: exactMatch http://identifiers.org/snomedct/77507001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155552
property_value: exactMatch NCIT:C26974

[Term]
id: MONDO:0044013
name: puerperal disorder
def: "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans." [MESH:D011644]
synonym: "disorder of puerperium" EXACT []
synonym: "disorder, puerperal" RELATED [MESH:D011644]
synonym: "disorders, puerperal" RELATED [MESH:D011644]
synonym: "postpartum disorder" RELATED []
synonym: "puerperal disorder" EXACT [MESH:D011644]
xref: MESH:D011644 {source="MONDO:equivalentTo"}
xref: SCTID:362973001 {source="MONDO:equivalentTo"}
xref: UMLS:C0034040 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652"} ! disease or disorder
relationship: excluded_subClassOf MONDO:0024575 {source="MESH:D011644"} ! pregnancy disorder
property_value: exactMatch http://identifiers.org/mesh/D011644
property_value: exactMatch http://identifiers.org/snomedct/362973001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0034040

[Term]
id: MONDO:0044014
name: postpartum thyroiditis
def: "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" [MESH:D050032, NCIT:C114389]
synonym: "post partum thyroiditis" RELATED [MESH:D050032]
synonym: "post-partum thyroiditides" RELATED [MESH:D050032]
synonym: "post-partum thyroiditis" RELATED [MESH:D050032]
synonym: "postpartum thyroiditides" RELATED [MESH:D050032]
synonym: "postpartum thyroiditis" EXACT [NCIT:C114389]
synonym: "thyroiditides, post-partum" RELATED [MESH:D050032]
synonym: "thyroiditides, postpartum" RELATED [MESH:D050032]
synonym: "thyroiditis, post-partum" RELATED [MESH:D050032]
synonym: "thyroiditis, postpartum" RELATED [MESH:D050032]
xref: MESH:D050032 {source="MONDO:equivalentTo"}
xref: NCIT:C114389 {source="MONDO:equivalentTo"}
xref: SCTID:52772002 {source="MONDO:equivalentTo"}
xref: UMLS:C0271815 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C114389"}
is_a: MONDO:0005623 {source="MESH:D050032"} ! autoimmune thyroid disease
is_a: MONDO:0044013 ! puerperal disorder
intersection_of: MONDO:0004126 ! thyroiditis (disease)
intersection_of: MONDO:0044013 ! puerperal disorder
property_value: exactMatch http://identifiers.org/mesh/D050032
property_value: exactMatch http://identifiers.org/snomedct/52772002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271815
property_value: exactMatch NCIT:C114389

[Term]
id: MONDO:0044033
name: posterior leukoencephalopathy syndrome
def: "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." [NCIT:C78598]
synonym: "leukoencephalopathy syndrome, Posterior" RELATED [MESH:D054038]
synonym: "leukoencephalopathy syndromes, Posterior" RELATED [MESH:D054038]
synonym: "Posterior reversible encephalopathy syndrome" EXACT [NCIT:C78598]
synonym: "posterior reversible encephalopathy syndrome" EXACT []
synonym: "PRES" EXACT [NCIT:C78598]
synonym: "reversible occipital parietal encephalopathy" EXACT [NCIT:C78598]
synonym: "reversible Posterior cerebral edema syndrome" EXACT [NCIT:C78598]
synonym: "reversible Posterior leukoencephalopathy syndrome" EXACT [NCIT:C78598]
synonym: "reversible posterior leukoencephalopathy syndrome" EXACT [MESH:D054038, NCIT:C78598]
synonym: "RPLE" EXACT [NCIT:C78598]
synonym: "syndrome, Posterior leukoencephalopathy" RELATED [MESH:D054038]
synonym: "syndromes, Posterior leukoencephalopathy" RELATED [MESH:D054038]
xref: EFO:1001804 {source="MONDO:equivalentTo"}
xref: MESH:D054038 {source="MONDO:equivalentTo"}
xref: NCIT:C78598 {source="MONDO:equivalentTo"}
xref: SCTID:450886002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0044033", source="NCIT:C78598"} ! syndromic disease
is_a: MONDO:0006796 {source="MESH:D054038"} ! hypertensive encephalopathy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3160858
property_value: exactMatch http://identifiers.org/mesh/D054038
property_value: exactMatch http://identifiers.org/snomedct/450886002
property_value: exactMatch NCIT:C78598

[Term]
id: MONDO:0044037
name: livedo reticularis
def: "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." [MESH:D054068]
synonym: "livedo racemosa" RELATED []
synonym: "livedo reticularis" EXACT []
xref: MESH:D054068 {source="MONDO:equivalentTo"}
xref: SCTID:238772004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085642 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005294 {source="MESH:D054068"} ! peripheral vascular disease
is_a: MONDO:0019293 {source="MESH:D054068", source="linkedlifedata"} ! skin vascular disease
property_value: exactMatch http://identifiers.org/mesh/D054068
property_value: exactMatch http://identifiers.org/snomedct/238772004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0085642

[Term]
id: MONDO:0044067
name: candidiasis, Invasive
def: "A fungal infection by any of the Candida species in a sterile body compartment." [NCIT:C116813]
synonym: "Candidiases, invasive" RELATED [MESH:D058365]
synonym: "invasive Candidiases" RELATED [MESH:D058365]
synonym: "invasive candidiasis" EXACT [NCIT:C116813]
xref: EFO:1001282 {source="MONDO:equivalentTo"}
xref: MESH:D058365 {source="MONDO:equivalentTo"}
xref: NCIT:C116813 {source="MONDO:equivalentTo"}
is_a: MONDO:0002026 {source="MESH:D058365", source="NCIT:C116813"} ! candidiasis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1609535
property_value: exactMatch http://identifiers.org/mesh/D058365
property_value: exactMatch NCIT:C116813

[Term]
id: MONDO:0044070
name: candidemia
def: "A form of invasive candidiasis where species of candida are present in the blood." [MESH:D058387]
synonym: "candidemia" EXACT []
synonym: "Candidemias" RELATED [MESH:D058387]
xref: EFO:1001311 {source="MONDO:equivalentTo"}
xref: MESH:D058387 {source="MONDO:equivalentTo"}
xref: SCTID:432261003 {source="MONDO:equivalentTo"}
xref: UMLS:C0877445 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044067 {source="MESH:D058387"} ! candidiasis, Invasive
property_value: exactMatch http://identifiers.org/mesh/D058387
property_value: exactMatch http://identifiers.org/snomedct/432261003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0877445

[Term]
id: MONDO:0044079
name: cardio-renal syndrome
def: "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." [NCIT:C123225]
synonym: "cardio renal syndrome" RELATED [MESH:D059347]
synonym: "cardio-renal syndromes" RELATED [MESH:D059347]
synonym: "cardiorenal syndrome" EXACT [MESH:D059347, NCIT:C123225]
synonym: "cardiorenal syndromes" RELATED [MESH:D059347]
synonym: "Reno Cardiac syndrome" RELATED [MESH:D059347]
synonym: "Reno-Cardiac syndrome" RELATED [MESH:D059347]
synonym: "Reno-Cardiac syndromes" RELATED [MESH:D059347]
synonym: "Renocardiac syndrome" RELATED [MESH:D059347]
synonym: "Renocardiac syndromes" RELATED [MESH:D059347]
synonym: "syndrome, cardio-renal" RELATED [MESH:D059347]
synonym: "syndrome, cardiorenal" RELATED [MESH:D059347]
synonym: "syndrome, Reno-Cardiac" RELATED [MESH:D059347]
synonym: "syndrome, Renocardiac" RELATED [MESH:D059347]
synonym: "syndromes, cardio-renal" RELATED [MESH:D059347]
synonym: "syndromes, cardiorenal" RELATED [MESH:D059347]
synonym: "syndromes, Reno-Cardiac" RELATED [MESH:D059347]
synonym: "syndromes, Renocardiac" RELATED [MESH:D059347]
xref: EFO:1001262 {source="MONDO:equivalentTo"}
xref: MESH:D059347 {source="MONDO:equivalentTo"}
xref: NCIT:C123225 {source="MONDO:equivalentTo"}
xref: SCTID:445236007 {source="MONDO:equivalentTo"}
xref: UMLS:C2242703 {source="MONDO:equivalentTo", source="NCIT:C123225"}
is_a: MONDO:0002254 {source="MONDOLEX:0044079", source="NCIT:C123225"} ! syndromic disease
is_a: MONDO:0005252 {source="MESH:D059347", source="linkedlifedata"} ! heart failure
relationship: disease_has_feature MONDO:0001106 {source="MESH:D059347"} ! kidney failure
relationship: disease_has_feature MONDO:0005252 {source="MESH:D059347"} ! heart failure
property_value: exactMatch http://identifiers.org/mesh/D059347
property_value: exactMatch http://identifiers.org/snomedct/445236007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2242703
property_value: exactMatch NCIT:C123225

[Term]
id: MONDO:0044083
name: alternariosis
def: "Opportunistic fungal infection by a member of Alternaria genus." [MESH:D060487]
synonym: "Alternarioses" RELATED [MESH:D060487]
synonym: "Alternarioses, cutaneous" RELATED [MESH:D060487]
synonym: "Alternarioses, dermal" RELATED [MESH:D060487]
synonym: "Alternarioses, subcutaneous" RELATED [MESH:D060487]
synonym: "Alternariosis, cutaneous" RELATED [MESH:D060487]
synonym: "Alternariosis, dermal" RELATED [MESH:D060487]
synonym: "Alternariosis, subcutaneous" RELATED [MESH:D060487]
synonym: "cutaneous Alternarioses" RELATED [MESH:D060487]
synonym: "cutaneous Alternariosis" RELATED [MESH:D060487]
synonym: "cutaneous alternariosis" EXACT []
synonym: "dermal Alternarioses" RELATED [MESH:D060487]
synonym: "dermal Alternariosis" RELATED [MESH:D060487]
synonym: "subcutaneous Alternarioses" RELATED [MESH:D060487]
synonym: "subcutaneous Alternariosis" RELATED [MESH:D060487]
xref: EFO:1001893 {source="MONDO:equivalentTo"}
xref: MESH:D060487 {source="MONDO:equivalentTo"}
xref: SCTID:238436005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 ! fungal infectious disease
property_value: exactMatch http://identifiers.org/mesh/D060487
property_value: exactMatch http://identifiers.org/snomedct/238436005

[Term]
id: MONDO:0044092
name: collagenous sprue
def: "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." [NCIT:C45426]
synonym: "collagenous enteropathy" RELATED []
synonym: "collagenous enteropathy syndrome" RELATED []
synonym: "collagenous sprue" EXACT [NCIT:C45426]
synonym: "collagenous Sprues" RELATED [MESH:D064068]
synonym: "non-gluten intolerance syndrome" RELATED []
synonym: "non-gluten sensitive enteropathy syndrome" EXACT []
synonym: "sprue, collagenous" RELATED [MESH:D064068]
synonym: "Sprues, collagenous" RELATED [MESH:D064068]
xref: MESH:D064068 {source="MONDO:equivalentTo"}
xref: NCIT:C45426 {source="MONDO:equivalentTo"}
xref: SCTID:61738006 {source="MONDO:equivalentTo"}
xref: UMLS:C0341299 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45426"}
is_a: MONDO:0015188 ! metabolic disease with intestinal involvement
relationship: excluded_subClassOf MONDO:0005130 {source="NCIT:C45426"} ! celiac disease
property_value: exactMatch http://identifiers.org/mesh/D064068
property_value: exactMatch http://identifiers.org/snomedct/61738006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341299
property_value: exactMatch NCIT:C45426

[Term]
id: MONDO:0044098
name: ovarian ectopic pregnancy
def: "An abnormal pregnancy in which the conception is implanted on the ovary." [NCIT:C92945]
synonym: "ectopic pregnancy of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian Pregnancies" RELATED [MESH:D065172]
synonym: "ovarian pregnancy" EXACT [MESH:D065172, NCIT:C92945]
synonym: "ovary ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Pregnancies, ovarian" RELATED [MESH:D065172]
xref: MESH:D065172 {source="MONDO:equivalentTo"}
xref: NCIT:C92945 {source="MONDO:equivalentTo"}
xref: SCTID:9899009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000755 {source="MESH:D065172", source="MONDO:Redundant", source="NCIT:C92945", source="linkedlifedata"} ! ectopic pregnancy
is_a: MONDO:0005558 {source="MONDO:Redundant", source="linkedlifedata"} ! ovarian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0032991
property_value: exactMatch http://identifiers.org/mesh/D065172
property_value: exactMatch http://identifiers.org/snomedct/9899009
property_value: exactMatch NCIT:C92945

[Term]
id: MONDO:0044101
name: pregnancy, cornual
def: "An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus." [NCIT:C92761]
synonym: "cornual Pregnancies" RELATED [MESH:D065173]
synonym: "cornual pregnancy" EXACT [MESH:D065173, NCIT:C92761]
synonym: "ectopic pregnancy of uterine horn" EXACT [MONDO:design_pattern]
synonym: "Pregnancies, cornual" RELATED [MESH:D065173]
synonym: "rudimentary horn pregnancy" RELATED []
synonym: "uterine horn ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MESH:D065173 {source="MONDO:equivalentTo"}
xref: NCIT:C92761 {source="MONDO:equivalentTo"}
xref: SCTID:87605005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000755 {source="MESH:D065173", source="MONDO:Redundant", source="NCIT:C92761", source="linkedlifedata"} ! ectopic pregnancy
is_a: MONDO:0002654 {source="MONDO:Redundant", source="linkedlifedata"} ! uterine disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0269286
property_value: exactMatch http://identifiers.org/mesh/D065173
property_value: exactMatch http://identifiers.org/snomedct/87605005
property_value: exactMatch NCIT:C92761

[Term]
id: MONDO:0044113
name: bullous systemic lupus erythematosus
def: "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption." [NCIT:C117104]
synonym: "BSLE" EXACT [NCIT:C117104]
synonym: "bullous systemic lupus erythematosus" EXACT [NCIT:C117104]
xref: EFO:0008619 {source="MONDO:equivalentTo"}
xref: NCIT:C117104 {source="MONDO:equivalentTo"}
xref: Orphanet:46489 {source="MONDO:equivalentObsolete"}
xref: SCTID:239889005 {source="MONDO:equivalentTo"}
xref: UMLS:C0409977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C117104"}
is_a: MONDO:0005282 {source="linkedlifedata"} ! cutaneous lupus erythematosus
is_a: MONDO:0007915 {source="MONDOLEX:0044113", source="NCIT:C117104", source="linkedlifedata"} ! systemic lupus erythematosus (disease)
property_value: exactMatch http://identifiers.org/snomedct/239889005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0409977
property_value: exactMatch NCIT:C117104
property_value: exactMatch Orphanet:46489

[Term]
id: MONDO:0044137
name: vitreous body disorder
def: "Any disease affecting the vitreous body of the eye." [NCIT:C45256]
synonym: "disease of vitreous body" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of vitreous body" EXACT []
synonym: "disorder of vitreous body" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vitreous body" RELATED [MONDO:patterns/location_top]
synonym: "vitreous body disease" EXACT [MONDO:design_pattern]
synonym: "vitreous body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vitreous body disorder" EXACT [NCIT:C45256]
xref: EFO:0008624 {source="MONDO:equivalentTo"}
xref: ICD9:379.29 {source="linkedlifedata"}
xref: NCIT:C45256 {source="MONDO:equivalentTo"}
xref: SCTID:76682005 {source="MONDO:equivalentTo"}
xref: UMLS:C0155365 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C45256"}
is_a: MONDO:0003900 ! connective tissue disease
is_a: MONDO:0005328 {source="EFO:0008624", source="MONDO:Redundant", source="NCIT:C45256", source="linkedlifedata/inferred"} ! eye disease
property_value: exactMatch http://identifiers.org/snomedct/76682005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0155365
property_value: exactMatch NCIT:C45256

[Term]
id: MONDO:0044138
name: hyalitis
def: "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina." [NCIT:C50587]
synonym: "hyalitis" EXACT [NCIT:C50587]
synonym: "hyaloiditis" EXACT [NCIT:C50587]
synonym: "Vitreitis" EXACT [NCIT:C50587]
synonym: "Vitritis" EXACT [NCIT:C50587]
synonym: "vitritis" EXACT []
xref: EFO:1001907 {source="MONDO:equivalentTo"}
xref: NCIT:C50587 {source="MONDO:equivalentTo"}
xref: SCTID:95802009 {source="MONDO:equivalentTo"}
xref: UMLS:C0235812 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C50587"}
is_a: MONDO:0006806 {source="linkedlifedata"} ! intermediate uveitis (disease)
is_a: MONDO:0044137 {source="NCIT:C50587", source="linkedlifedata"} ! vitreous body disorder
property_value: exactMatch http://identifiers.org/snomedct/95802009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0235812
property_value: exactMatch NCIT:C50587

[Term]
id: MONDO:0044141
name: panic disorder without agoraphobia
def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." [NCIT:C97193]
synonym: "panic disorder without agoraphobia" EXACT [NCIT:C97193]
xref: EFO:1001906 {source="MONDO:equivalentTo"}
xref: NCIT:C97193 {source="MONDO:equivalentTo"}
xref: SCTID:56576003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005383 {source="EFO:1001906", source="MONDOLEX:0044141", source="linkedlifedata"} ! panic disorder
disjoint_from: MONDO:0044144 ! panic disorder with agoraphobia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236794
property_value: exactMatch http://identifiers.org/snomedct/56576003
property_value: exactMatch NCIT:C97193

[Term]
id: MONDO:0044144
name: panic disorder with agoraphobia
def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." [NCIT:C97194]
synonym: "panic disorder with agoraphobia" EXACT [NCIT:C97194]
xref: NCIT:C97194 {source="MONDO:equivalentTo"}
xref: SCTID:35607004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003709 ! agoraphobia
is_a: MONDO:0005383 ! panic disorder
intersection_of: MONDO:0003709 ! agoraphobia
intersection_of: MONDO:0005383 ! panic disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0236800
property_value: exactMatch http://identifiers.org/snomedct/35607004
property_value: exactMatch NCIT:C97194

[Term]
id: MONDO:0044200
name: T-B+ severe combined immunodeficiency
def: "T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." [Orphanet:317416]
comment: Editor note: add logical definition
subset: ordo_group_of_disorders
synonym: "T-B+ SCID" EXACT [Orphanet:317416]
synonym: "T-cell negative B-cell positive SCID" EXACT []
xref: ICD10:D81.2 {source="Orphanet:317416"}
xref: Orphanet:317416 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="MONDOLEX:0044200", source="Orphanet:317416"} ! severe combined immunodeficiency (disease)
disjoint_from: MONDO:0044201 ! T+ B+ severe combined immunodeficiency
property_value: exactMatch Orphanet:317416

[Term]
id: MONDO:0044201
name: T+ B+ severe combined immunodeficiency
subset: ordo_group_of_disorders
synonym: "T+B+ SCID" EXACT []
synonym: "T-cell positive B-cell positive SCID" EXACT []
xref: ICD10:D81.2 {source="Orphanet:397802"}
xref: Orphanet:397802 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="MONDOLEX:0044201", source="Orphanet:397802"} ! severe combined immunodeficiency (disease)
property_value: exactMatch Orphanet:397802

[Term]
id: MONDO:0044202
name: episodic kinesigenic dyskinesia
synonym: "EKD" BROAD []
xref: OMIMPS:128200 {source="MONDO:equivalentTo"}
is_a: MONDO:0015427 {source="MONDO:cjm"} ! paroxysmal dyskinesia

[Term]
id: MONDO:0044203
name: foveal hypoplasia
synonym: "FVH" RELATED [MONDO:Lexical]
xref: OMIMPS:136520 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease

[Term]
id: MONDO:0044204
name: Shwachman-Diamond syndrome 1
synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400]
synonym: "pancreatic insufficiency and bone marrow dysfunction" RELATED [OMIM:260400]
synonym: "SDS1" RELATED [OMIM:260400]
synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Diamond syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Diamond syndrome 1; SDS1" RELATED [OMIM:260400]
xref: OMIM:260400 {source="MONDO:equivalentTo"}
is_a: MONDO:0009833 {source="MONDOLEX:0044204", source="OMIM:260400"} ! Shwachman-Diamond syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0272170
property_value: exactMatch http://identifiers.org/omim/260400

[Term]
id: MONDO:0044205
name: Shwachman-Diamond syndrome 2
def: "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." [OMIM:617941]
synonym: "SDS2" RELATED [OMIM:617941]
synonym: "Shwachman-Diamond syndrome 2; SDS2" RELATED [OMIM:617941]
xref: OMIM:617941 {source="MONDO:equivalentTo"}
xref: UMLS:CN244554 {source="MONDO:equivalentTo"}
is_a: MONDO:0009833 {source="MONDOLEX:0044205", source="OMIM:617941"} ! Shwachman-Diamond syndrome
property_value: exactMatch http://identifiers.org/omim/617941
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244554

[Term]
id: MONDO:0044206
name: otospondylomegaepiphyseal dysplasia, autosomal recessive
synonym: "chondrodystrophy with sensorineural deafness" RELATED [OMIM:215150]
synonym: "Nance-Insley syndrome" RELATED [OMIM:215150]
synonym: "Nance-Sweeney chondrodysplasia" RELATED [OMIM:215150]
synonym: "OSMED" RELATED [OMIM:215150]
synonym: "OSMEDB" RELATED [OMIM:215150]
synonym: "otospondylomegaepiphyseal dysplasia, autosomal recessive; OSMEDB" RELATED [OMIM:215150]
synonym: "Weissenbacher-Zweymuller syndrome" RELATED [OMIM:215150]
synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [OMIM:215150]
xref: OMIM:215150 {source="MONDO:equivalentTo"}
is_a: MONDO:0008975 {source="MONDOLEX:0044206", source="OMIM:215150"} ! otospondylomegaepiphyseal dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4520892
property_value: exactMatch http://identifiers.org/omim/215150

[Term]
id: MONDO:0044207
name: specific granule deficiency 1
def: "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CEBPE specific granule deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480]
synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480]
synonym: "SGD1" RELATED [OMIM:245480]
synonym: "specific granule deficiency 1; SGD1" RELATED [OMIM:245480]
synonym: "specific granule deficiency caused by mutation in CEBPE" EXACT [MONDO:design_pattern]
xref: OMIM:245480 {source="MONDO:equivalentTo"}
is_a: MONDO:0009506 {source="MONDO:Redundant", source="OMIM:245480"} ! specific granule deficiency
property_value: exactMatch http://identifiers.org/omim/245480

[Term]
id: MONDO:0044208
name: specific granule deficiency 2
def: "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)." [OMIM:617475]
synonym: "SGD2" RELATED [OMIM:617475]
synonym: "specific granule deficiency 2; SGD2" RELATED [OMIM:617475]
xref: OMIM:617475 {source="MONDO:equivalentTo"}
xref: UMLS:C4479548 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617475"}
is_a: MONDO:0009506 {source="OMIM:617475"} ! specific granule deficiency
property_value: exactMatch http://identifiers.org/omim/617475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479548

[Term]
id: MONDO:0044209
name: disorder of lectin complement activation pathway
def: "A disease that has its basis in the disruption of complement activation, lectin pathway." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "complement activation, lectin pathway disease" EXACT []
synonym: "disorder of complement activation, lectin pathway" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of complement activation, lectin pathway" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: OMIMPS:614372 {source="MONDO:equivalentTo"}
is_a: MONDO:0003832 ! complement deficiency

[Term]
id: MONDO:0044210
name: thalassemia minor
def: "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." [SCDO:0000114]
synonym: "beta thalassemia trait" EXACT [SCDO:0000114]
xref: ICD10:D56.3 {source="MONDO:equivalentTo"}
xref: MedDRA:10054662 {source="MONDO:equivalentTo"}
xref: SCDO:0000114 {source="MONDO:equivalentTo"}
xref: SCTID:19442009 {source="MONDO:equivalentTo"}
is_a: MONDO:0013517 {source="SCDO:0000114", source="https://github.com/monarch-initiative/mondo/issues/1756"} ! beta-thalassemia HBB/LCRB
property_value: exactMatch http://identifiers.org/meddra/10054662
property_value: exactMatch http://identifiers.org/snomedct/19442009

[Term]
id: MONDO:0044211
name: idiopathic urticaria
synonym: "idiopathic angioedema-urticaria" RELATED []
xref: ICD10:L50.1 {source="MONDO:equivalentTo"}
xref: ICD9:708.1 {source="linkedlifedata"}
xref: SCTID:42265009 {source="MONDO:equivalentTo"}
xref: UMLS:C0157741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005492 {source="ICD10:L50.1", source="linkedlifedata"} ! urticaria (disease)
property_value: exactMatch http://identifiers.org/snomedct/42265009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0157741

[Term]
id: MONDO:0044212
name: chronic idiopathic urticaria
def: "Chronic form of idiopathic urticaria." [MONDO:patterns/chronic]
synonym: "chronic idiopathic urticaria" EXACT []
synonym: "idiopathic urticaria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: SCTID:302162004 {source="MONDO:equivalentTo"}
xref: UMLS:C0578870 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044211 {source="MONDO:Redundant", source="MONDOLEX:0044212", source="linkedlifedata"} ! idiopathic urticaria
property_value: exactMatch http://identifiers.org/snomedct/302162004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0578870

[Term]
id: MONDO:0044213
name: acute idiopathic urticaria
def: "Acute form of idiopathic urticaria." [MONDO:patterns/acute]
synonym: "acute idiopathic urticaria" EXACT []
synonym: "idiopathic urticaria, acute" EXACT [MONDO:patterns/acute]
xref: SCTID:302161006 {source="MONDO:equivalentTo"}
xref: UMLS:C0578869 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0020683 ! acute disease
is_a: MONDO:0044211 ! idiopathic urticaria
property_value: exactMatch http://identifiers.org/snomedct/302161006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0578869

[Term]
id: MONDO:0044214
name: obsolete androstenone, ability to smell
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "ANDROSTENONE, ability to smell" RELATED [OMIM:105570]
xref: OMIM:105570 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862934
property_value: exactMatch http://identifiers.org/omim/105570
is_obsolete: true

[Term]
id: MONDO:0044215
name: obsolete arm folding preference
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "ARM folding preference" RELATED [OMIM:107850]
xref: OMIM:107850 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862535
property_value: exactMatch http://identifiers.org/omim/107850
is_obsolete: true

[Term]
id: MONDO:0044216
name: obsolete artichoke, modification of taste by
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "artichoke, modification of taste by" RELATED [OMIM:108320]
xref: OMIM:108320 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862464
property_value: exactMatch http://identifiers.org/omim/108320
is_obsolete: true

[Term]
id: MONDO:0044217
name: obsolete asparagus, specific smell hypersensitivity
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "asparagus, specific smell hypersensitivity" RELATED [OMIM:108390]
xref: OMIM:108390 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862460
property_value: exactMatch http://identifiers.org/omim/108390
is_obsolete: true

[Term]
id: MONDO:0044218
name: obsolete beeturia
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BEETURIA" RELATED [OMIM:109600]
synonym: "Betacyaninuria" RELATED [OMIM:109600]
xref: OMIM:109600 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862292
property_value: exactMatch http://identifiers.org/omim/109600
is_obsolete: true

[Term]
id: MONDO:0044219
name: obsolete blood group, duffy system
def: "The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." [OMIM:110700]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, DUFFY system; FY" RELATED [OMIM:110700]
synonym: "Duffy blood Group system" RELATED [OMIM:110700]
synonym: "FY" RELATED [OMIM:110700]
synonym: "Plasmodium vivax, resistance to" RELATED [OMIM:110700]
xref: OMIM:110700 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0013278
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970105
property_value: exactMatch http://identifiers.org/omim/110700
is_obsolete: true

[Term]
id: MONDO:0044220
name: obsolete blood group, 1 system
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "adult I phenotype" RELATED [OMIM:110800]
synonym: "blood group, I system; II" RELATED [OMIM:110800]
synonym: "I blood Group system" RELATED [OMIM:110800]
synonym: "II" RELATED [OMIM:110800]
synonym: "II blood Group system" RELATED [OMIM:110800]
xref: OMIM:110800 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0020717
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292164
property_value: exactMatch http://identifiers.org/omim/110800
is_obsolete: true

[Term]
id: MONDO:0044221
name: obsolete blood group--lutheran inhibitor
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group--Lutheran INHIBITOR; INLU" RELATED [OMIM:111150]
synonym: "dominant 50U (A-B-) phenotype" RELATED [OMIM:111150]
synonym: "INLU" RELATED [OMIM:111150]
xref: OMIM:111150 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292231
property_value: exactMatch http://identifiers.org/omim/111150
is_obsolete: true

[Term]
id: MONDO:0044222
name: obsolete blood group, p1pk system
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, P1PK system" RELATED [OMIM:111400]
synonym: "Nor Polyagglutination syndrome" RELATED [OMIM:111400]
synonym: "P phenotype" RELATED [OMIM:111400]
synonym: "P(1) phenotype" RELATED [OMIM:111400]
synonym: "P(2) phenotype" RELATED [OMIM:111400]
synonym: "P1(K) phenotype" RELATED [OMIM:111400]
synonym: "P2(K) phenotype" RELATED [OMIM:111400]
xref: OMIM:111400 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0391848
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0599990
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292197
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292198
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292199
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549485
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549486
property_value: exactMatch http://identifiers.org/omim/111400
is_obsolete: true

[Term]
id: MONDO:0044223
name: obsolete radin blood group antigen
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood Group--Radin antigen" RELATED [OMIM:111620]
synonym: "RADIN blood group antigen; RD" RELATED [OMIM:111620]
synonym: "RD" RELATED [OMIM:111620]
xref: OMIM:111620 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862204
property_value: exactMatch http://identifiers.org/omim/111620
is_obsolete: true

[Term]
id: MONDO:0044224
name: obsolete apocrine gland secretion, variation 1n
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "apocrine gland secretion, variation IN" RELATED [OMIM:117800]
synonym: "axillary odor, variation 1N" RELATED [OMIM:117800]
synonym: "cerumen, variation 1N" RELATED [OMIM:117800]
synonym: "colostrum secretion, variation 1N" RELATED [OMIM:117800]
synonym: "Ear wax, wet/dry" RELATED [OMIM:117800]
synonym: "wet wax" RELATED [OMIM:117800]
xref: OMIM:117800 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861696
property_value: exactMatch http://identifiers.org/omim/117800
is_obsolete: true

[Term]
id: MONDO:0044225
name: obsolete creatine kinase, brain type, ectopic expression of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "CKBE" RELATED [OMIM:123270]
synonym: "creatine KINASE, brain type, ectopic expression OF; CKBE" RELATED [OMIM:123270]
xref: HGNC:1992 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887923
is_obsolete: true

[Term]
id: MONDO:0044226
name: obsolete defective interfering particle induction, control of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "defective interfering particle induction, control OF" RELATED [OMIM:125260]
synonym: "Dipi, control of" RELATED [OMIM:125260]
synonym: "homologous viral interference" RELATED [OMIM:125260]
synonym: "vesicular stomatitis Virus defective interfering particle repressor" RELATED [OMIM:125260]
xref: HGNC:12678 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852265
is_obsolete: true

[Term]
id: MONDO:0044227
name: obsolete dimples, facial
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cheek dimples" RELATED [OMIM:126100]
synonym: "dimples, FACIAL" RELATED [OMIM:126100]
synonym: "smiling dimples" RELATED [OMIM:126100]
xref: OMIM:126100 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1852076
property_value: exactMatch http://identifiers.org/omim/126100
is_obsolete: true

[Term]
id: MONDO:0044228
name: obsolete eegbqtl
def: "Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." [OMIM:130190]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "EEGBQTL" RELATED [OMIM:130190]
synonym: "ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus; EEGBQTL" RELATED [OMIM:130190]
xref: OMIM:130190 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3549684
property_value: exactMatch http://identifiers.org/omim/130190
is_obsolete: true

[Term]
id: MONDO:0044229
name: obsolete epiblepharon of lower 51d
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "epiblepharon of lower lid" RELATED [OMIM:131450]
xref: OMIM:131450 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851583
property_value: exactMatch http://identifiers.org/omim/131450
is_obsolete: true

[Term]
id: MONDO:0044230
name: obsolete epiblepharon of upper 51d
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "epiblepharon of upper lid" RELATED [OMIM:131460]
xref: OMIM:131460 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851582
property_value: exactMatch http://identifiers.org/omim/131460
is_obsolete: true

[Term]
id: MONDO:0044231
name: obsolete eyebrow, whorl 1n
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "eyebrow, whorl in" RELATED [OMIM:133800]
xref: OMIM:133800 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851401
property_value: exactMatch http://identifiers.org/omim/133800
is_obsolete: true

[Term]
id: MONDO:0044232
name: obsolete fingers, relative length of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "2D:4D finger-length ratio" RELATED [OMIM:136100]
synonym: "fingers, relative length OF" RELATED [OMIM:136100]
xref: OMIM:136100 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1851079
property_value: exactMatch http://identifiers.org/omim/136100
is_obsolete: true

[Term]
id: MONDO:0044233
name: obsolete hair whorl
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Cowlick" RELATED [OMIM:139400]
synonym: "Double hair whorl" RELATED [OMIM:139400]
synonym: "hair whorl" RELATED [OMIM:139400]
xref: OMIM:139400 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1185616
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1841698
property_value: exactMatch http://identifiers.org/omim/139400
is_obsolete: true

[Term]
id: MONDO:0044234
name: obsolete hrm2
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "curly hair" RELATED [OMIM:139450]
synonym: "hair curvature, variation 1N" RELATED [OMIM:139450]
synonym: "hair morphology 2; HRM2" RELATED [OMIM:139450]
synonym: "HRM2" RELATED [OMIM:139450]
xref: OMIM:139450 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2697452
property_value: exactMatch http://identifiers.org/omim/139450
is_obsolete: true

[Term]
id: MONDO:0044235
name: obsolete hsr
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hand skill, relative; HSR" RELATED [OMIM:139900]
synonym: "handedness" RELATED [OMIM:139900]
synonym: "HSR" RELATED [OMIM:139900]
xref: OMIM:139900 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0023114
property_value: exactMatch http://identifiers.org/omim/139900
is_obsolete: true

[Term]
id: MONDO:0044236
name: obsolete hepatitis b vaccine, response to
def: "More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." [OMIM:142395]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "HBV vaccine, response to" RELATED [OMIM:142395]
synonym: "HEPATITIS B vaccine, response to" RELATED [OMIM:142395]
xref: OMIM:142395 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840634
property_value: exactMatch http://identifiers.org/omim/142395
is_obsolete: true

[Term]
id: MONDO:0044237
name: obsolete hypercholesterolemia suppressor
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hypercholesterolemia suppressor" RELATED [OMIM:144020]
xref: OMIM:144020 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1840430
property_value: exactMatch http://identifiers.org/omim/144020
is_obsolete: true

[Term]
id: MONDO:0044238
name: obsolete lunulae of fingernails
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "lunulae of fingernails" RELATED [OMIM:152600]
xref: OMIM:152600 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1186306
property_value: exactMatch http://identifiers.org/omim/152600
is_obsolete: true

[Term]
id: MONDO:0044239
name: obsolete median-ulnar nerve communications
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Martin-Gruber Median-ulnar anastomosis" RELATED [OMIM:155150]
synonym: "median-ulnar nerve communications" RELATED [OMIM:155150]
xref: OMIM:155150 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1835086
property_value: exactMatch http://identifiers.org/omim/155150
is_obsolete: true

[Term]
id: MONDO:0044240
name: obsolete musical perfect pitch
def: "Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." [OMIM:159300]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "absolute pitch" RELATED [OMIM:159300]
synonym: "musical perfect pitch" RELATED [OMIM:159300]
xref: OMIM:159300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834650
property_value: exactMatch http://identifiers.org/omim/159300
is_obsolete: true

[Term]
id: MONDO:0044241
name: obsolete mydriatic response to pharmacologic agents
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "mydriatic response to pharmacologic agents" RELATED [OMIM:159410]
xref: OMIM:159410 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834634
property_value: exactMatch http://identifiers.org/omim/159410
is_obsolete: true

[Term]
id: MONDO:0044242
name: obsolete mydriasis, congenital
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "mydriasis, congenital" RELATED [OMIM:159420]
xref: OMIM:159420 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1303010
property_value: exactMatch http://identifiers.org/omim/159420
is_obsolete: true

[Term]
id: MONDO:0044243
name: obsolete nail high-sulfur protein
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "nail high-sulfur PROTEIN" RELATED [OMIM:161070]
xref: OMIM:161070 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834404
property_value: exactMatch http://identifiers.org/omim/161070
is_obsolete: true

[Term]
id: MONDO:0044244
name: obsolete nail low-sulfur protein
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "nail LOW-sulfur PROTEIN" RELATED [OMIM:161080]
xref: OMIM:161080 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834403
property_value: exactMatch http://identifiers.org/omim/161080
is_obsolete: true

[Term]
id: MONDO:0044245
name: obsolete nailbeds, pigmentation of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "NAILBEDS, pigmentation OF" RELATED [OMIM:161100]
xref: OMIM:161100 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1834402
property_value: exactMatch http://identifiers.org/omim/161100
is_obsolete: true

[Term]
id: MONDO:0044246
name: obsolete nystagmus, voluntary
def: "Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." [OMIM:164170]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "NYSTAGMUS, voluntary" RELATED [OMIM:164170]
xref: OMIM:164170 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0339667
property_value: exactMatch http://identifiers.org/omim/164170
is_obsolete: true

[Term]
id: MONDO:0044247
name: obsolete palmomental reflex
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "PALMOMENTAL reflex" RELATED [OMIM:167700]
xref: OMIM:167700 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751470
property_value: exactMatch http://identifiers.org/omim/167700
is_obsolete: true

[Term]
id: MONDO:0044248
name: obsolete thiourea tasting
def: "The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." [OMIM:171200]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Phenylthiocarbamide tasting" RELATED [OMIM:171200]
synonym: "prop tasting" RELATED [OMIM:171200]
synonym: "Propylthiouracil tasting" RELATED [OMIM:171200]
synonym: "ptc tasting" RELATED [OMIM:171200]
synonym: "THIOT" RELATED [OMIM:171200]
synonym: "thiourea tasting; THIOT" RELATED [OMIM:171200]
xref: OMIM:171200 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868397
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868398
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868399
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868400
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868401
property_value: exactMatch http://identifiers.org/omim/171200
is_obsolete: true

[Term]
id: MONDO:0044249
name: obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "alkaline phosphatase, elevated serum" RELATED [OMIM:171720]
synonym: "alkaline phosphatase, plasma level OF, quantitative trait locus 1" RELATED [OMIM:171720]
synonym: "Alpqtl1" RELATED [OMIM:171720]
synonym: "hyperphosphatasemia, benign familial" RELATED [OMIM:171720]
xref: OMIM:171720 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868387
property_value: exactMatch http://identifiers.org/omim/171720
is_obsolete: true

[Term]
id: MONDO:0044250
name: obsolete tongue curling, folding, or rolling
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cloverleaf tongue" RELATED [OMIM:189300]
synonym: "tongue curling, folding, or rolling" RELATED [OMIM:189300]
synonym: "trefoil tongue" RELATED [OMIM:189300]
xref: OMIM:189300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861055
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861056
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861057
property_value: exactMatch http://identifiers.org/omim/189300
is_obsolete: true

[Term]
id: MONDO:0044251
name: obsolete australia antigen
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Australia antigen" RELATED [OMIM:209800]
xref: OMIM:209800 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019168
property_value: exactMatch http://identifiers.org/omim/209800
is_obsolete: true

[Term]
id: MONDO:0044252
name: obsolete skin/hair/eye pigmentation, variation in, 6
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "SHEP6" RELATED [OMIM:210750]
synonym: "skin/hair/eye pigmentation 6, Blond/Brown hair" RELATED [OMIM:210750]
synonym: "skin/hair/eye pigmentation 6, blue/Green eyes" RELATED [OMIM:210750]
synonym: "skin/hair/eye pigmentation, variation IN, 6; SHEP6" RELATED [OMIM:210750]
xref: OMIM:210750 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673866
property_value: exactMatch http://identifiers.org/omim/210750
is_obsolete: true

[Term]
id: MONDO:0044253
name: obsolete dermatoglyphics--palmar triradius d, absence of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "dermatoglyphics--palmar triradius d, absence of" RELATED [OMIM:221760]
xref: OMIM:221760 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857329
property_value: exactMatch http://identifiers.org/omim/221760
is_obsolete: true

[Term]
id: MONDO:0044254
name: obsolete dermatoglyphics--hypothenar radial arch
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "dermatoglyphics--hypothenar radial arch" RELATED [OMIM:221780]
xref: OMIM:221780 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1857315
property_value: exactMatch http://identifiers.org/omim/221780
is_obsolete: true

[Term]
id: MONDO:0044255
name: obsolete skin/hair/eye pigmentation, variation in, 1
def: "<Subhead> Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationnnMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." [OMIM:227220]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Brown eye color 2" RELATED [OMIM:227220]
synonym: "eye color 3" RELATED [OMIM:227220]
synonym: "eye color, blue/Nonblue" RELATED [OMIM:227220]
synonym: "eye color, Brown/blue" RELATED [OMIM:227220]
synonym: "hair color 3" RELATED [OMIM:227220]
synonym: "SHEP1" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, Blond/Brown hair" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, blue/Brown eyes" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, blue/Nonblue eyes" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation, variation IN, 1; SHEP1" RELATED [OMIM:227220]
xref: OMIM:227220 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1856895
property_value: exactMatch http://identifiers.org/omim/227220
is_obsolete: true

[Term]
id: MONDO:0044256
name: obsolete skin/hair/eye pigmentation, variation in, 5
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "SHEP5" RELATED [OMIM:227240]
synonym: "skin/hair/eye pigmentation 5, Black/nonblack hair" RELATED [OMIM:227240]
synonym: "skin/hair/eye pigmentation 5, dark/fair skin" RELATED [OMIM:227240]
synonym: "skin/hair/eye pigmentation 5, dark/Light eyes" RELATED [OMIM:227240]
synonym: "skin/hair/eye pigmentation, variation IN, 5; SHEP5" RELATED [OMIM:227240]
xref: OMIM:227240 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2673584
property_value: exactMatch http://identifiers.org/omim/227240
is_obsolete: true

[Term]
id: MONDO:0044257
name: obsolete lutheran null
def: "Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." [OMIM:247420]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Lutheran null" RELATED [OMIM:247420]
synonym: "recessive 50U (A-B-) phenotype" RELATED [OMIM:247420]
xref: OMIM:247420 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292230
property_value: exactMatch http://identifiers.org/omim/247420
is_obsolete: true

[Term]
id: MONDO:0044258
name: obsolete methane production
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "methane production" RELATED [OMIM:250650]
xref: OMIM:250650 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1855163
property_value: exactMatch http://identifiers.org/omim/250650
is_obsolete: true

[Term]
id: MONDO:0044259
name: obsolete skin/hair/eye pigmentation, variation in, 2
def: "Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." [OMIM:266300]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Blond hair/fair skin" RELATED [OMIM:266300]
synonym: "hair color 2" RELATED [OMIM:266300]
synonym: "Red hair color" RELATED [OMIM:266300]
synonym: "Rha" RELATED [OMIM:266300]
synonym: "SHEP2" RELATED [OMIM:266300]
synonym: "skin/hair/eye pigmentation, variation IN, 2; SHEP2" RELATED [OMIM:266300]
synonym: "UV-induced skin damage, susceptibility to" RELATED [OMIM:266300]
xref: OMIM:266300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1849452
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2678403
property_value: exactMatch http://identifiers.org/omim/266300
is_obsolete: true

[Term]
id: MONDO:0044260
name: obsolete ec1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "EC1" RELATED [OMIM:272370]
synonym: "natural Killer cell susceptibility 1" RELATED [OMIM:272370]
synonym: "susceptibility to lysis by ALLOREACTIVE natural KILLER cells; EC1" RELATED [OMIM:272370]
xref: HGNC:7832 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1848953
is_obsolete: true

[Term]
id: MONDO:0044261
name: obsolete menoq1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "menopause, natural, AGE AT, quantitative trait locus 1; MENOQ1" RELATED [OMIM:300488]
synonym: "MENOQ1" RELATED [OMIM:300488]
xref: OMIM:300488 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1970897
property_value: exactMatch http://identifiers.org/omim/300488
is_obsolete: true

[Term]
id: MONDO:0044262
name: obsolete cyanide, inability to smell
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cyanide, inability to smell" RELATED [OMIM:304300]
xref: OMIM:304300 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844681
property_value: exactMatch http://identifiers.org/omim/304300
is_obsolete: true

[Term]
id: MONDO:0044263
name: obsolete lutheran suppressor, x-linked
def: "An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." [OMIM:309050]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Lutheran suppressor, X-linked; XS" RELATED [OMIM:309050]
synonym: "LuxS" RELATED [OMIM:309050]
synonym: "XS" RELATED [OMIM:309050]
xref: HGNC:12837 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3887995
is_obsolete: true

[Term]
id: MONDO:0044264
name: obsolete radial loop, plain, on right index finger
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "radial loop, plain, ON right index finger" RELATED [OMIM:312200]
xref: OMIM:312200 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839409
property_value: exactMatch http://identifiers.org/omim/312200
is_obsolete: true

[Term]
id: MONDO:0044265
name: obsolete tooth size
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "tooth size" RELATED [OMIM:314240]
xref: OMIM:314240 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839140
property_value: exactMatch http://identifiers.org/omim/314240
is_obsolete: true

[Term]
id: MONDO:0044266
name: obsolete xm system
def: "{2,3:Berg and Bearn (1966, 1966)} discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." [OMIM:314900]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "XM system" RELATED [OMIM:314900]
xref: HGNC:12813 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1839088
is_obsolete: true

[Term]
id: MONDO:0044267
name: obsolete gcy
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "GCY" RELATED [OMIM:475000]
synonym: "growth control, Y-chromosome influenced; GCY" RELATED [OMIM:475000]
synonym: "stature" RELATED [OMIM:475000]
synonym: "tooth size" RELATED [OMIM:475000]
xref: HGNC:4211 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1868676
is_obsolete: true

[Term]
id: MONDO:0044268
name: obsolete transsexuality
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "TRANSSEXUALITY" RELATED [OMIM:600952]
xref: OMIM:600952 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833064
property_value: exactMatch http://identifiers.org/omim/600952
is_obsolete: true

[Term]
id: MONDO:0044269
name: obsolete novelty seeking personality trait
def: "Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." [OMIM:601696]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "novelty seeking personality trait" RELATED [OMIM:601696]
synonym: "risk-taking behavior" RELATED [OMIM:601696]
xref: OMIM:601696 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0683303
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866430
property_value: exactMatch http://identifiers.org/omim/601696
is_obsolete: true

[Term]
id: MONDO:0044270
name: obsolete bilirubin, serum level of, quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BILIQTL1" RELATED [OMIM:601816]
synonym: "bilirubin, serum level OF, quantitative trait locus 1; BILIQTL1" RELATED [OMIM:601816]
xref: OMIM:601816 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866173
property_value: exactMatch http://identifiers.org/omim/601816
is_obsolete: true

[Term]
id: MONDO:0044271
name: obsolete bone mineral density quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMND1" RELATED [OMIM:601884]
synonym: "bone mineral density quantitative trait locus 1; BMND1" RELATED [OMIM:601884]
synonym: "high bone Mass" RELATED [OMIM:601884]
synonym: "osteoporosis, susceptibility to" RELATED [OMIM:601884]
xref: OMIM:601884 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1277579
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866079
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866080
property_value: exactMatch http://identifiers.org/omim/601884
is_obsolete: true

[Term]
id: MONDO:0044272
name: obsolete body mass index quantitative trait locus 9
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMIQ9" RELATED [OMIM:602025]
synonym: "body MASS index quantitative trait locus 9; BMIQ9" RELATED [OMIM:602025]
synonym: "obesity, susceptibility to" RELATED [OMIM:602025]
xref: OMIM:602025 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677162
property_value: exactMatch http://identifiers.org/omim/602025
is_obsolete: true

[Term]
id: MONDO:0044273
name: obsolete hypertension, diastolic, resistance to
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hypertension, diastolic, resistance to" RELATED [OMIM:608622]
xref: OMIM:608622 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1837739
property_value: exactMatch http://identifiers.org/omim/608622
is_obsolete: true

[Term]
id: MONDO:0044274
name: obsolete hemoglobin, high altitude adaptation
def: "Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." [OMIM:609070]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "HALAH" RELATED [OMIM:609070]
synonym: "HEMOGLOBIN, high altitude adaptation; HALAH" RELATED [OMIM:609070]
synonym: "Hemoglobin, high oxygen saturation of" RELATED [OMIM:609070]
xref: OMIM:609070 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836778
property_value: exactMatch http://identifiers.org/omim/609070
is_obsolete: true

[Term]
id: MONDO:0044275
name: obsolete carotid intimal medial thickness 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "carotid intimal medial thickness 1" RELATED [OMIM:609338]
synonym: "Cimt1" RELATED [OMIM:609338]
synonym: "intimal medial thickness of internal carotid artery" RELATED [OMIM:609338]
xref: OMIM:609338 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1836302
property_value: exactMatch http://identifiers.org/omim/609338
is_obsolete: true

[Term]
id: MONDO:0044276
name: obsolete skin/hair/eye pigmentation, variation in, 11
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Melanesian blond hair" RELATED [OMIM:612271]
synonym: "SHEP11" RELATED [OMIM:612271]
synonym: "skin/hair/eye pigmentation 11, blue/Nonblue eyes" RELATED [OMIM:612271]
synonym: "skin/hair/eye pigmentation, variation IN, 11; SHEP11" RELATED [OMIM:612271]
xref: OMIM:612271 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2677086
property_value: exactMatch http://identifiers.org/omim/612271
is_obsolete: true

[Term]
id: MONDO:0044277
name: obsolete uric acid concentration, serum, quantitative trait locus 4
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "gout susceptibility 4" RELATED [OMIM:612671]
synonym: "UAQTL4" RELATED [OMIM:612671]
synonym: "uric acid concentration, serum, quantitative trait locus 4; UAQTL4" RELATED [OMIM:612671]
xref: OMIM:612671 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675207
property_value: exactMatch http://identifiers.org/omim/612671
is_obsolete: true

[Term]
id: MONDO:0044278
name: obsolete short sleeper
def: "In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." [OMIM:612975]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "short sleep phenotype" RELATED [OMIM:612975]
synonym: "short sleeper" RELATED [OMIM:612975]
xref: OMIMPS:612975 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751509
is_obsolete: true

[Term]
id: MONDO:0044279
name: obsolete bone mineral density quantitative trait locus 15
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMND15" RELATED [OMIM:613418]
synonym: "bone mineral density quantitative trait locus 15; BMND15" RELATED [OMIM:613418]
synonym: "compression fracture, susceptibility to" RELATED [OMIM:613418]
synonym: "metaphyseal fracture, susceptibility to" RELATED [OMIM:613418]
synonym: "osteoporosis, susceptibility to" RELATED [OMIM:613418]
xref: OMIM:613418 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3150680
property_value: exactMatch http://identifiers.org/omim/613418
is_obsolete: true

[Term]
id: MONDO:0044280
name: obsolete glycerol quantitative trait locus
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "body Mass index quantitative trait locus 17" RELATED [OMIM:614411]
synonym: "GLYCEROL quantitative trait locus; GLYCQTL" RELATED [OMIM:614411]
synonym: "Glycerol release during exercise, defective" RELATED [OMIM:614411]
synonym: "GLYCQTL" RELATED [OMIM:614411]
xref: OMIM:614411 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3280715
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3553098
property_value: exactMatch http://identifiers.org/omim/614411
is_obsolete: true

[Term]
id: MONDO:0044281
name: obsolete c3hex, ability to smell
def: "Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." [OMIM:615082]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "C3HEX, ability to smell" RELATED [OMIM:615082]
xref: OMIM:615082 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3554456
property_value: exactMatch http://identifiers.org/omim/615082
is_obsolete: true

[Term]
id: MONDO:0044282
name: obsolete blood group, vel system
def: "The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." [OMIM:615264]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, VEL system; VEL" RELATED [OMIM:615264]
synonym: "VEL" RELATED [OMIM:615264]
synonym: "Vel-null phenotype" RELATED [OMIM:615264]
xref: OMIM:615264 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2745907
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3808966
property_value: exactMatch http://identifiers.org/omim/615264
is_obsolete: true

[Term]
id: MONDO:0044283
name: obsolete body mass index quantitative trait locus 18
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMIQ18" RELATED [OMIM:615457]
synonym: "body MASS index quantitative trait locus 18; BMIQ18" RELATED [OMIM:615457]
synonym: "obesity, susceptibility to" RELATED [OMIM:615457]
xref: OMIM:615457 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3714940
property_value: exactMatch http://identifiers.org/omim/615457
is_obsolete: true

[Term]
id: MONDO:0044284
name: obsolete blood group, gerbich system
def: "The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." [OMIM:616089]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, Gerbich system; GE" RELATED [OMIM:616089]
synonym: "GE" RELATED [OMIM:616089]
synonym: "Gerbich blood Group system" RELATED [OMIM:616089]
xref: OMIM:616089 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1292300
property_value: exactMatch http://identifiers.org/omim/616089
is_obsolete: true

[Term]
id: MONDO:0044299
name: myasthenic syndrome, congenital, 22
synonym: "CMS22" RELATED [OMIM:616224]
synonym: "myasthenic syndrome, congenital, 22; CMS22" RELATED [OMIM:616224]
synonym: "Prepl deficiency" RELATED [OMIM:616224]
xref: OMIM:616224 {source="MONDO:equivalentTo"}
xref: UMLS:C4479088 {source="OMIM:616224", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="MONDOLEX:0044299", source="OMIM:616224"} ! congenital myasthenic syndrome
property_value: exactMatch http://identifiers.org/omim/616224
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479088

[Term]
id: MONDO:0044300
name: familial adenomatous polyposis 4
alt_id: MONDO:0014913
def: "Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100)." [OMIM:617100]
synonym: "familial adenomatous polyposis 4" EXACT [OMIM:617100]
synonym: "familial adenomatous polyposis 4; FAP4" EXACT [MONDOLEX:0014913]
synonym: "familial adenomatous polyposis 4; FAP4" RELATED [OMIM:617100]
synonym: "familial adenomatous polyposis type 4" EXACT [MONDORULE:1, OMIM:617100]
synonym: "FAP4" EXACT ABBREVIATION [MONDOLEX:0014913]
synonym: "FAP4" RELATED [OMIM:617100]
xref: OMIM:617100 {source="MONDO:equivalentTo"}
is_a: MONDO:0016362 {source="MONDO:cjm"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:617100"} ! classic familial adenomatous polyposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4310719
property_value: exactMatch http://identifiers.org/omim/617100

[Term]
id: MONDO:0044301
name: aortic aneurysm, familial thoracic 11, susceptibility to
subset: predisposition
synonym: "AAT11" RELATED [OMIM:617349]
synonym: "aortic aneurysm, familial thoracic 11, susceptibility to; AAT11" RELATED [OMIM:617349]
xref: OMIM:617349 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0019625 {source="OMIM:617349"} ! familial thoracic aortic aneurysm and aortic dissection
is_a: MONDO:0020573 {source="OMIM:617349"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005396 ! thoracic aortic aneurysm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479235
property_value: exactMatch http://identifiers.org/omim/617349

[Term]
id: MONDO:0044302
name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
synonym: "CHDFIDD" RELATED [OMIM:617360]
synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder; CHDFIDD" RELATED [OMIM:617360]
xref: OMIM:617360 {source="MONDO:equivalentTo"}
xref: UMLS:C4479246 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617360"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617360
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479246

[Term]
id: MONDO:0044303
name: congenital heart defects and ectodermal dysplasia
synonym: "CHDED" RELATED [OMIM:617364]
synonym: "congenital heart defects and ectodermal dysplasia; CHDED" RELATED [OMIM:617364]
xref: OMIM:617364 {source="MONDO:equivalentTo"}
xref: UMLS:C4479250 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617364"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617364
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479250

[Term]
id: MONDO:0044304
name: hyperphenylalaninemia due to DNAJC12 deficiency
def: "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." [OMIM:617384]
subset: ordo_disease
synonym: "HPANBH4" RELATED [OMIM:617384]
synonym: "hyperphenylalaninemia, mild, non-BH4-deficient; HPANBH4" RELATED [OMIM:617384]
xref: OMIM:617384 {source="MONDO:equivalentTo", source="Orphanet:508523"}
xref: Orphanet:508523 {source="MONDO:equivalentTo"}
xref: UMLS:C4479270 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617384"}
is_a: MONDO:0009861 {source="https://github.com/Orphanet/ORDO/issues/15"} ! phenylketonuria
is_a: MONDO:0017756 {source="Orphanet:508523"} ! disorder of pterin metabolism
is_a: MONDO:0018329 {source="Orphanet:508523"} ! persistent combined dystonia
property_value: exactMatch http://identifiers.org/omim/617384
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479270
property_value: exactMatch Orphanet:508523

[Term]
id: MONDO:0044305
name: ectodermal dysplasia 13, hair/tooth type
synonym: "ECTD13" RELATED [OMIM:617392]
synonym: "ectodermal dysplasia 13, hair/tooth type; ECTD13" RELATED [OMIM:617392]
xref: OMIM:617392 {source="MONDO:equivalentTo"}
xref: UMLS:C4479322 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617392"}
is_a: MONDO:0019287 {source="MONDOLEX:0044305", source="OMIM:617392"} ! ectodermal dysplasia syndrome
property_value: exactMatch http://identifiers.org/omim/617392
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479322

[Term]
id: MONDO:0044306
name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
def: "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." [OMIM:617393]
subset: ordo_disease
synonym: "NECFM" RELATED [OMIM:617393]
synonym: "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination; NECFM" RELATED [OMIM:617393]
synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [Orphanet:500545]
xref: OMIM:617393 {source="Orphanet:500545", source="MONDO:equivalentTo"}
xref: Orphanet:500545 {source="MONDO:equivalentTo", source="OMIM:617393"}
xref: UMLS:C4479333 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617393"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500545", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015653 {source="Orphanet:500545"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020225 {source="Orphanet:500545"} ! syndromic cataract
property_value: exactMatch http://identifiers.org/omim/617393
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479333
property_value: exactMatch Orphanet:500545

[Term]
id: MONDO:0044308
name: bardet-biedl syndrome 21
def: "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)." [OMIM:617406]
synonym: "Bardet-Biedl syndrome 21; BBS21" RELATED [OMIM:617406]
synonym: "BBS21" RELATED [OMIM:617406]
xref: OMIM:617406 {source="MONDO:equivalentTo"}
xref: UMLS:C4319932 {source="MEDGEN:kboom-pr98-c99", source="OMIM:617406", source="MONDO:equivalentTo"}
is_a: MONDO:0015229 {source="OMIM:617406"} ! Bardet-Biedl syndrome
property_value: exactMatch http://identifiers.org/omim/617406
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4319932

[Term]
id: MONDO:0044309
name: Diamond-Blackfan anemia 16
synonym: "DBA16" RELATED [OMIM:617408]
synonym: "Diamond-Blackfan anemia 16; DBA16" RELATED [OMIM:617408]
xref: OMIM:617408 {source="MONDO:equivalentTo"}
xref: UMLS:C4479424 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617408"}
is_a: MONDO:0015253 {source="MONDOLEX:0044309", source="OMIM:617408"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/617408
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479424

[Term]
id: MONDO:0044310
name: Diamond-Blackfan anemia 17
synonym: "DBA17" RELATED [OMIM:617409]
synonym: "Diamond-Blackfan anemia 17; DBA17" RELATED [OMIM:617409]
xref: OMIM:617409 {source="MONDO:equivalentTo"}
xref: UMLS:C4479428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617409"}
is_a: MONDO:0015253 {source="MONDOLEX:0044310", source="OMIM:617409"} ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/617409
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479428

[Term]
id: MONDO:0044311
name: brachycephaly, trichomegaly, and developmental delay
def: "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." [OMIM:617412]
synonym: "brachycephaly, trichomegaly, and developmental delay; BTDD" RELATED [OMIM:617412]
synonym: "BTDD" RELATED [OMIM:617412]
synonym: "Macinnes syndrome" RELATED [OMIM:617412]
xref: OMIM:617412 {source="MONDO:equivalentTo"}
xref: UMLS:C4479431 {source="OMIM:617412", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617412
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479431

[Term]
id: MONDO:0044312
name: immunoskeletal dysplasia with neurodevelopmental abnormalities
synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities; ISDNA" RELATED [OMIM:617425]
synonym: "ISDNA" RELATED [OMIM:617425]
xref: OMIM:617425 {source="MONDO:equivalentTo"}
xref: UMLS:C4479452 {source="MEDGEN:kboom-pr97-c99", source="OMIM:617425", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617425
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479452

[Term]
id: MONDO:0044313
name: mental retardation, autosomal recessive 60
synonym: "mental retardation, autosomal recessive 60; MRT60" RELATED [OMIM:617432]
synonym: "MRT60" RELATED [OMIM:617432]
xref: OMIM:617432 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:617432"} ! autosomal recessive non-syndromic intellectual disability
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479476
property_value: exactMatch http://identifiers.org/omim/617432

[Term]
id: MONDO:0044314
name: retinitis pigmentosa 78
synonym: "retinitis pigmentosa 78; RP78" RELATED [OMIM:617433]
synonym: "RP78" RELATED [OMIM:617433]
xref: OMIM:617433 {source="MONDO:equivalentTo"}
xref: UMLS:C4479481 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617433"}
is_a: MONDO:0019200 {source="OMIM:617433"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/617433
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479481

[Term]
id: MONDO:0044315
name: craniosynostosis 7
def: "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." [OMIM:617439]
synonym: "craniosynostosis 7, digenic" RELATED [OMIM:617439]
synonym: "craniosynostosis 7; CRS7" RELATED [OMIM:617439]
synonym: "CRS7" RELATED [OMIM:617439]
synonym: "Crs7, digenic" RELATED [OMIM:617439]
xref: OMIM:617439 {source="MONDO:equivalentTo"}
xref: UMLS:C4479496 {source="MEDGEN:kboom-pr98-c99", source="OMIM:617439", source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDOLEX:0044315", source="OMIM:617439"} ! craniosynostosis
property_value: exactMatch http://identifiers.org/omim/617439
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479496

[Term]
id: MONDO:0044316
name: thrombocytopenia, anemia, and myelofibrosis
synonym: "THAMY" RELATED [OMIM:617441]
synonym: "thrombocytopenia, anemia, and myelofibrosis; THAMY" RELATED [OMIM:617441]
xref: OMIM:617441 {source="MONDO:equivalentTo"}
xref: UMLS:C4479504 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617441"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617441
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479504

[Term]
id: MONDO:0044317
name: premature ovarian failure 13
synonym: "POF13" RELATED [OMIM:617442]
synonym: "premature ovarian failure 13; POF13" RELATED [OMIM:617442]
xref: OMIM:617442 {source="MONDO:equivalentTo"}
xref: UMLS:C4479510 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617442"}
is_a: MONDO:0005387 {source="OMIM:617442"} ! primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/617442
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479510

[Term]
id: MONDO:0044318
name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
def: "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." [OMIM:617450]
synonym: "IDDGIP" RELATED [OMIM:617450]
synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold; IDDGIP" RELATED [OMIM:617450]
xref: OMIM:617450 {source="MONDO:equivalentTo"}
xref: UMLS:C4479517 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617450"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/617450
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479517

[Term]
id: MONDO:0044319
name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
def: "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." [OMIM:617452]
subset: ordo_malformation_syndrome
synonym: "IDDFSDA" RELATED [OMIM:617452]
synonym: "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies; IDDFSDA" RELATED [OMIM:617452]
xref: OMIM:617452 {source="MONDO:equivalentTo", source="Orphanet:505237"}
xref: Orphanet:505237 {source="MONDO:equivalentTo", source="OMIM:617452"}
xref: UMLS:C4479520 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617452"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:505237"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:505237"} ! monogenic epilepsy
property_value: exactMatch http://identifiers.org/omim/617452
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479520
property_value: exactMatch Orphanet:505237

[Term]
id: MONDO:0044320
name: retinitis pigmentosa 79
synonym: "retinitis pigmentosa 79; RP79" RELATED [OMIM:617460]
synonym: "RP79" RELATED [OMIM:617460]
xref: OMIM:617460 {source="MONDO:equivalentTo"}
xref: UMLS:C4479526 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617460"}
is_a: MONDO:0019200 {source="OMIM:617460"} ! retinitis pigmentosa
property_value: exactMatch http://identifiers.org/omim/617460
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479526

[Term]
id: MONDO:0044321
name: structural heart defects and renal anomalies syndrome
synonym: "SHDRA" RELATED [OMIM:617478]
synonym: "structural heart defects and renal anomalies syndrome; SHDRA" RELATED [OMIM:617478]
xref: OMIM:617478 {source="MONDO:equivalentTo"}
xref: UMLS:C4479549 {source="OMIM:617478", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617478
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479549

[Term]
id: MONDO:0044322
name: intellectual developmental disorder with neuropsychiatric features
def: "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." [OMIM:617532]
synonym: "IDDNPF" RELATED [OMIM:617532]
synonym: "intellectual developmental disorder with neuropsychiatric features; IDDNPF" RELATED [OMIM:617532]
xref: OMIM:617532 {source="MONDO:equivalentTo"}
xref: UMLS:C4479636 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:617532"}
is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 ! intellectual disability
property_value: exactMatch http://identifiers.org/omim/617532
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479636

[Term]
id: MONDO:0044323
name: Rahman syndrome
def: "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." [OMIM:617537]
synonym: "Rahman syndrome; RMNS" RELATED [OMIM:617537]
synonym: "RMNS" RELATED [OMIM:617537]
xref: OMIM:617537 {source="MONDO:equivalentTo"}
xref: UMLS:C4479637 {source="MEDGEN:kboom-pr97-c99", source="OMIM:617537", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/617537
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479637

[Term]
id: MONDO:0044324
name: Al Kaissi syndrome
def: "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." [OMIM:617694]
synonym: "AL KAISSI syndrome; ALKAS" RELATED [OMIM:617694]
synonym: "ALKAS" RELATED [OMIM:617694]
synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" RELATED [OMIM:617694]
xref: OMIM:617694 {source="MONDO:equivalentTo"}
xref: UMLS:CN502749 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540156
property_value: exactMatch http://identifiers.org/omim/617694
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN502749

[Term]
id: MONDO:0044325
name: Fanconi anemia, complementation group W
synonym: "Fanconi anemia, complementation group W; FANCW" RELATED [OMIM:617784]
synonym: "FANCW" RELATED [OMIM:617784]
xref: OMIM:617784 {source="MONDO:equivalentTo"}
xref: UMLS:CN653907 {source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="OMIM:617784"} ! Fanconi anemia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4521564
property_value: exactMatch http://identifiers.org/omim/617784
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN653907

[Term]
id: MONDO:0044326
name: developmental delay and seizures with or without movement abnormalities
def: "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." [OMIM:617836]
synonym: "DEDSM" RELATED [OMIM:617836]
synonym: "developmental delay and seizures with or without movement abnormalities; DEDSM" RELATED [OMIM:617836]
xref: OMIM:617836 {source="MONDO:equivalentTo"}
xref: UMLS:CN769090 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:cjm"} ! syndromic intellectual disability
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: exactMatch http://identifiers.org/omim/617836
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN769090

[Term]
id: MONDO:0044327
name: polycystic liver disease 4 with or without kidney cysts
def: "PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by {1:Cnossen et al., 2014}).nnFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM:174050)." [OMIM:617875]
synonym: "PCLD4" RELATED [OMIM:617875]
synonym: "polycystic liver disease 4 with or without kidney cysts; PCLD4" RELATED [OMIM:617875]
xref: OMIM:617875 {source="MONDO:equivalentTo"}
xref: UMLS:CN818987 {source="MONDO:equivalentTo"}
is_a: MONDO:0000447 {source="MONDOLEX:0044327", source="OMIM:617875"} ! autosomal dominant polycystic liver disease
property_value: exactMatch http://identifiers.org/omim/617875
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN818987

[Term]
id: MONDO:0044328
name: short-rib thoracic dysplasia 20 with polydactyly
def: "Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)." [OMIM:617925]
synonym: "short-rib thoracic dysplasia 20 with polydactyly; SRTD20" RELATED [OMIM:617925]
synonym: "SRTD20" RELATED [OMIM:617925]
xref: OMIM:617925 {source="MONDO:equivalentTo"}
xref: UMLS:CN902090 {source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="OMIM:617925"} ! Jeune syndrome
property_value: exactMatch http://identifiers.org/omim/617925
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN902090

[Term]
id: MONDO:0044329
name: osteogenesis imperfecta, type 18
def: "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." [OMIM:617952]
synonym: "OI18" RELATED [OMIM:617952]
synonym: "osteogenesis imperfecta, type XVIII; OI18" RELATED [OMIM:617952]
xref: OMIM:617952 {source="MONDO:equivalentTo"}
xref: UMLS:CN244563 {source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="OMIM:617952"} ! osteogenesis imperfecta
property_value: exactMatch http://identifiers.org/omim/617952
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244563

[Term]
id: MONDO:0044330
name: hyperekplexia 4
def: "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)." [OMIM:618011]
synonym: "HKPX4" RELATED [OMIM:618011]
synonym: "hyperekplexia 4; HKPX4" RELATED [OMIM:618011]
xref: OMIM:618011 {source="MONDO:equivalentTo"}
xref: UMLS:CN248518 {source="MONDO:equivalentTo"}
is_a: MONDO:0021022 {source="MONDOLEX:0044330", source="OMIM:618011"} ! hereditary hyperekplexia
property_value: exactMatch http://identifiers.org/omim/618011
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248518

[Term]
id: MONDO:0044331
name: genetic transient congenital hypothyroidism
def: "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disease
synonym: "hereditary transient congenital hypothyroidism" EXACT [MONDO:patterns/hereditary]
xref: ICD10:P72.2 {source="Orphanet:226316"}
xref: Orphanet:226316 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0016556 {source="Orphanet:226316"} ! transient congenital hypothyroidism due to neonatal factor
intersection_of: MONDO:0015792 ! transient congenital hypothyroidism
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch Orphanet:226316

[Term]
id: MONDO:0044332
name: childhood-onset benign chorea with striatal involvement
subset: ordo_disease
xref: Orphanet:494541 {source="MONDO:equivalentTo"}
is_a: MONDO:0015548 {source="Orphanet:494541"} ! Huntington disease-like syndrome
is_a: MONDO:0017646 {source="Orphanet:494541"} ! neurodegenerative disease with chorea
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: exactMatch Orphanet:494541

[Term]
id: MONDO:0044333
name: alcohol-induced Wernicke-Korsakoff's syndrome
def: "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues." [NCIT:C34366]
comment: Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this.
synonym: "alcohol-induced amnestic syndrome" EXACT [NCIT:C34366]
synonym: "alcohol-induced Wernicke-Korsakoff's syndrome" EXACT [NCIT:C34366]
synonym: "alcoholic Korsakoff's psychosis" EXACT [NCIT:C34366]
xref: NCIT:C34366 {source="MONDO:equivalentTo"}
is_a: MONDO:0010198 {source="MONDOLEX:0044333", source="NCIT:C34366"} ! Wernicke-Korsakoff syndrome
is_a: MONDO:0021702 {source="MONDO:cjm", source="MONDOLEX:0044333"} ! alcohol amnestic disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0001940
property_value: exactMatch NCIT:C34366

[Term]
id: MONDO:0044334
name: connective and soft tissue neoplasm
def: "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." [NCIT:C3810]
comment: Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone
synonym: "connective and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "connective and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "musculoskeletal and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "musculoskeletal and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "neoplasm of skeletal and soft tissue" EXACT [NCIT:C3810]
synonym: "neoplasm of soft tissue and bone" EXACT [NCIT:C3810]
synonym: "neoplasm of soft tissue and skeleton" EXACT [NCIT:C3810]
synonym: "skeletal and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "skeletal and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "soft tissue and bone neoplasm" EXACT [NCIT:C3810]
synonym: "soft tissue and bone tumor" EXACT [NCIT:C3810]
synonym: "tumor of skeletal and soft tissue" EXACT [NCIT:C3810]
synonym: "tumor of soft tissue and bone" EXACT [NCIT:C3810]
synonym: "tumor of soft tissue and skeleton" EXACT [NCIT:C3810]
xref: NCIT:C3810 {source="MONDO:equivalentTo"}
is_a: MONDO:0005070 {source="MONDOLEX:0044334", source="NCIT:C3810/inferred"} ! neoplasm (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206765
property_value: exactMatch NCIT:C3810

[Term]
id: MONDO:0044335
name: benign soft tissue neoplasm
def: "A non-metastasizing neoplasm that arises from the soft tissue." [NCIT:C4242]
synonym: "benign neoplasm of soft tissue" EXACT [NCIT:C4242]
synonym: "benign neoplasm of the soft tissue" EXACT [NCIT:C4242]
synonym: "benign soft tissue neoplasm" EXACT [NCIT:C4242]
synonym: "benign soft tissue tumor" EXACT [NCIT:C4242]
synonym: "benign tumor of soft tissue" EXACT [NCIT:C4242]
synonym: "benign tumor of the soft tissue" EXACT [NCIT:C4242]
synonym: "soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:8800/0 {source="NCIT:C4242"}
xref: NCIT:C4242 {source="MONDO:equivalentTo"}
xref: SCTID:92069005 {source="MONDO:equivalentTo"}
xref: UMLS:C0334450 {source="NCIT:C4242", source="MONDO:equivalentTo"}
is_a: MONDO:0000654 {source="MONDO:Redundant", source="MONDOLEX:0044335", source="NCIT:C4242"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C4242", source="linkedlifedata"} ! soft tissue neoplasm
property_value: exactMatch http://identifiers.org/snomedct/92069005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334450
property_value: exactMatch NCIT:C4242

[Term]
id: MONDO:0044336
name: colorectal signet ring cell carcinoma
def: "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate." [NCIT:C43586]
synonym: "colorectal signet Ring cell carcinoma" EXACT [NCIT:C43586]
xref: NCIT:C43586 {source="MONDO:equivalentTo"}
xref: UMLS:C1707440 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C43586"}
is_a: MONDO:0005008 {source="NCIT:C43586"} ! colorectal adenocarcinoma
is_a: MONDO:0005092 {source="MONDO:Redundant", source="MONDOLEX:0044336", source="NCIT:C43586"} ! signet ring cell carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1707440
property_value: exactMatch NCIT:C43586

[Term]
id: MONDO:0044337
name: stromal sarcoma
def: "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma." [NCIT:C6926]
synonym: "stromal sarcoma" EXACT [NCIT:C6926]
synonym: "stromal sarcoma, malignant" EXACT [NCIT:C6926]
synonym: "stromal tumor, malignant" EXACT [NCIT:C6926]
xref: ICDO:8935/3 {source="NCIT:C6926"}
xref: NCIT:C6926 {source="MONDO:equivalentTo"}
xref: UMLS:C1370723 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6926"}
is_a: MONDO:0018078 {source="NCIT:C6926"} ! soft tissue sarcoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1370723
property_value: exactMatch NCIT:C6926

[Term]
id: MONDO:0044338
name: autoimmune primary ovarian failure
def: "An autoimmune form of primary ovarian failure." [MONDO:patterns/autoimmune]
synonym: "primary ovarian failure arising through autoimmunity" EXACT []
xref: ICD9:256.39 {source="linkedlifedata"}
xref: ICD9:279.49 {source="linkedlifedata"}
xref: SCTID:237790001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000569 {source="MONDO:Redundant", source="linkedlifedata"} ! autoimmune disease of endocrine system
is_a: MONDO:0000601 ! autoimmune disease of urogenital tract
is_a: MONDO:0005387 ! primary ovarian failure
property_value: exactMatch http://identifiers.org/snomedct/237790001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342508

[Term]
id: MONDO:0044339
name: lumbar disc degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral discs of the lumbar spine." [NCIT:C27154]
synonym: "degeneration of lumbar intervertebral disc" EXACT []
synonym: "degenerative disc disease" BROAD [EFO:0004994]
synonym: "degenerative disc disorder" BROAD [EFO:0004994]
synonym: "IDD" BROAD [OMIM:603932]
synonym: "intervertebral disc degenerative disorder of lumbar region of vertebral column" EXACT [MONDO:design_pattern]
synonym: "intervertebral disc disease" BROAD [EFO:0004994]
synonym: "intervertebral DISC disease; IDD" BROAD [OMIM:603932]
synonym: "lumbar Disc Degeneration" EXACT [NCIT:C27154]
synonym: "lumbar disc degeneration, susceptibility to" RELATED [OMIM:603932]
synonym: "lumbar Disc degenerative disease" EXACT [NCIT:C27154]
synonym: "lumbar Disc degenerative disorder" EXACT [NCIT:C27154]
synonym: "lumbar disc disease" RELATED [OMIM:603932]
synonym: "lumbar disc herniation, susceptibility to" RELATED [OMIM:603932]
synonym: "lumbar region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0004994 {source="MONDO:equivalentTo"}
xref: MESH:C535531 {source="EFO:0004994", source="MONDO:equivalentTo"}
xref: NCIT:C27154 {source="MONDO:equivalentTo"}
xref: OMIM:603932 {source="EFO:0004994", source="MONDO:equivalentTo"}
xref: SCTID:26538006 {source="MONDO:equivalentTo"}
is_a: MONDO:0011385 {source="MESH:C535531", source="MONDO:Redundant", source="MONDOLEX:0044339", source="NCIT:C27154", source="linkedlifedata"} ! intervertebral disc degenerative disorder
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0158252
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0221775
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2675551
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2676840
property_value: exactMatch http://identifiers.org/mesh/C535531
property_value: exactMatch http://identifiers.org/omim/603932
property_value: exactMatch http://identifiers.org/snomedct/26538006
property_value: exactMatch NCIT:C27154

[Term]
id: MONDO:0044342
name: thoracic disc degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral discs of the thoracic spine." [NCIT:C27155]
synonym: "degeneration of thoracic intervertebral disc" EXACT []
synonym: "intervertebral disc degenerative disorder of thoracic region of vertebral column" EXACT [MONDO:design_pattern]
synonym: "thoracic Disc Degeneration" EXACT [NCIT:C27155]
synonym: "thoracic Disc degenerative disease" EXACT [NCIT:C27155]
synonym: "thoracic Disc degenerative disorder" EXACT [NCIT:C27155]
synonym: "thoracic region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: NCIT:C27155 {source="MONDO:equivalentTo"}
xref: SCTID:68675004 {source="MONDO:equivalentTo"}
xref: UMLS:C0263872 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000651 ! thoracic disease
is_a: MONDO:0011385 {source="MONDO:Redundant", source="NCIT:C27155", source="linkedlifedata"} ! intervertebral disc degenerative disorder
property_value: exactMatch http://identifiers.org/snomedct/68675004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263872
property_value: exactMatch NCIT:C27155

[Term]
id: MONDO:0044343
name: cervical disc degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral discs of the cervical spine." [NCIT:C27156]
synonym: "cervical Disc Degeneration" EXACT [NCIT:C27156]
synonym: "cervical Disc degenerative disease" EXACT [NCIT:C27156]
synonym: "cervical Disc degenerative disorder" EXACT [NCIT:C27156]
synonym: "cervical region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "degeneration of cervical intervertebral disc" EXACT []
synonym: "intervertebral disc degenerative disorder of cervical region of vertebral column" EXACT [MONDO:design_pattern]
xref: NCIT:C27156 {source="MONDO:equivalentTo"}
xref: SCTID:69195002 {source="MONDO:equivalentTo"}
xref: UMLS:C0158262 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
xref: UMLS:C0410606 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0011385 {source="MONDO:Redundant", source="MONDOLEX:0044343", source="NCIT:C27156", source="linkedlifedata"} ! intervertebral disc degenerative disorder
is_a: MONDO:0021059 ! head or neck disease/disorder
property_value: exactMatch http://identifiers.org/snomedct/69195002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158262
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0410606
property_value: exactMatch NCIT:C27156

[Term]
id: MONDO:0044344
name: Schistosoma japonicum infectious disease
def: "An infection that is caused by Schistosoma japonicum." [NCIT:C35001]
synonym: "Asiatic schistosomiasis" RELATED []
synonym: "Katamaya fever" RELATED []
synonym: "Katamaya syndrome" RELATED []
synonym: "Katayama disease" RELATED []
synonym: "Schistosoma japonicum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma japonicum disease or disorder" EXACT []
synonym: "Schistosoma japonicum infection" EXACT [NCIT:C35001]
synonym: "schistosomiasis japonicum" RELATED [MESH:D012554]
xref: MESH:D012554 {source="MONDO:equivalentTo"}
xref: NCIT:C35001 {source="MONDO:equivalentTo"}
xref: SCTID:268058007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="MESH:D012554", source="NCIT:C35001", source="linkedlifedata"} ! schistosomiasis
property_value: exactMatch http://identifiers.org/mesh/D012554
property_value: exactMatch http://identifiers.org/snomedct/268058007
property_value: exactMatch NCIT:C35001

[Term]
id: MONDO:0044345
name: Schistosoma mansoni infectious disease
def: "An infection that is caused by Schistosoma mansoni." [NCIT:C35002]
synonym: "Schistosoma mansoni caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma mansoni disease or disorder" EXACT []
synonym: "Schistosoma mansoni infection" EXACT [NCIT:C35002]
xref: MESH:D012555 {source="MONDO:equivalentTo"}
xref: NCIT:C35002 {source="MONDO:equivalentTo"}
xref: SCTID:750009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="MESH:D012555", source="NCIT:C35002", source="linkedlifedata"} ! schistosomiasis
property_value: exactMatch http://identifiers.org/mesh/D012555
property_value: exactMatch http://identifiers.org/snomedct/750009
property_value: exactMatch NCIT:C35002

[Term]
id: MONDO:0044346
name: echinococcus granulosus infectious disease
def: "An disease or disorder caused by infection with Echinococcus granulosus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus granulosus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus granulosus disease or disorder" EXACT []
synonym: "echinococcus granulosus infection" EXACT []
synonym: "Echinococcus granulosus infectious disease" EXACT []
synonym: "echinococcus granulosus infectious disease" EXACT []
synonym: "unilocular hydatid disease" RELATED []
xref: ICD9:122.3 {source="linkedlifedata"}
xref: ICD9:122.4 {source="linkedlifedata"}
xref: SCTID:75006000 {source="MONDO:equivalentTo"}
xref: UMLS:C0152068 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005738 ! echinococcosis
property_value: exactMatch http://identifiers.org/snomedct/75006000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0152068

[Term]
id: MONDO:0044347
name: erythrocyte disease
def: "A disease or disorder that involves the erythrocyte." [MONDO:patterns/location]
synonym: "disease of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of erythrocyte" EXACT []
synonym: "disorder of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of erythrocyte" RELATED [MONDO:patterns/location_top]
synonym: "erythrocyte disease" EXACT [MONDO:design_pattern]
synonym: "erythrocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "red blood cell disease" EXACT []
synonym: "red blood cell disorder" EXACT []
xref: ICD9:289.9 {source="linkedlifedata"}
xref: SCTID:38292009 {source="MONDO:equivalentTo"}
xref: UMLS:C0221016 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="linkedlifedata"} ! hematologic disease
is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type
property_value: exactMatch http://identifiers.org/snomedct/38292009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0221016

[Term]
id: MONDO:0044348
name: hemoglobinopathy
synonym: "globin abnormality" RELATED []
synonym: "hemoglobin disease" RELATED []
synonym: "hemoglobin disorder" RELATED []
synonym: "hemoglobinopathy" EXACT []
xref: ICD9:282.7 {source="linkedlifedata"}
xref: SCTID:80141007 {source="MONDO:equivalentTo"}
is_a: MONDO:0044347 {source="linkedlifedata"} ! erythrocyte disease
relationship: disease_has_feature MONDO:0002280 ! anemia (disease)
property_value: exactMatch http://identifiers.org/snomedct/80141007

[Term]
id: MONDO:0044349
name: acquired hemoglobinopathy
def: "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired hemoglobinopathy" EXACT [MONDO:patterns/acquired]
xref: SCTID:127039000 {source="MONDO:equivalentTo"}
xref: UMLS:C1263995 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044348 {source="MONDO:Redundant", source="linkedlifedata"} ! hemoglobinopathy
intersection_of: MONDO:0044348 ! hemoglobinopathy
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/127039000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263995

[Term]
id: MONDO:0044350
name: hyperparathyroidism, primary, caused by water clear cell hyperplasia
synonym: "hyperparathyroidism, primary, caused by water clear cell hyperplasia" EXACT [OMIM:600166]
xref: MESH:C563982 {source="MONDO:equivalentTo"}
xref: OMIM:600166 {source="MONDO:equivalentTo"}
is_a: MONDO:0020524 {source="ORDO:99878/btnt"} ! primary parathyroid hyperplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1838501
property_value: exactMatch http://identifiers.org/mesh/C563982
property_value: exactMatch http://identifiers.org/omim/600166

[Term]
id: MONDO:0044351
name: Schistosoma intercalatum infectious disease
def: "An disease or disorder caused by infection with Schistosoma intercalatum." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "infection by Schistosoma intercalatum" EXACT [NCIT:C35364]
synonym: "infection caused by Schistosoma intercalatum" RELATED []
synonym: "Schistosoma intercalatum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma intercalatum disease or disorder" EXACT []
xref: ICD9:120.8 {source="linkedlifedata"}
xref: NCIT:C35364 {source="MONDO:equivalentTo"}
xref: SCTID:52179003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="NCIT:C35364", source="linkedlifedata"} ! schistosomiasis
property_value: exactMatch http://identifiers.org/snomedct/52179003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0276932
property_value: exactMatch NCIT:C35364

[Term]
id: MONDO:0044354
name: Rosai-Dorfman disease
def: "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." [Orphanet:158014]
subset: ordo_disease
synonym: "Destombes-RosaC/-Dorfman disease" EXACT [Orphanet:158014]
synonym: "Destombes-Rosaï-Dorfman disease" EXACT [Orphanet:158014]
synonym: "RosaC/-Dorfman-Destombes disease" EXACT [Orphanet:158014]
synonym: "Rosaï-Dorfman disease" RELATED [Orphanet:158014]
synonym: "Rosaï-Dorfman-Destombes disease" EXACT [Orphanet:158014]
synonym: "SHML" EXACT [Orphanet:158014]
synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:158014]
xref: ICD10:D76.3 {source="Orphanet:158014"}
xref: MedDRA:10063397 {source="Orphanet:158014"}
xref: ONCOTREE:RDD {source="MONDO:equivalentTo"}
xref: Orphanet:158014 {source="MONDO:equivalentTo"}
is_a: MONDO:0015531 {source="Orphanet:158014"} ! non-Langerhans cell histiocytosis
property_value: closeMatch http://identifiers.org/meddra/10063397
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0019625
property_value: exactMatch Orphanet:158014

[Term]
id: MONDO:0044355
name: isolated sternocostoclavicular hyperostosis
def: "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." [Orphanet:178311]
subset: ordo_disease
synonym: "isolated SCCH" EXACT [Orphanet:178311]
xref: ICD10:M85.8 {source="Orphanet:178311"}
xref: Orphanet:178311 {source="MONDO:equivalentTo"}
xref: SCTID:766711009 {source="MONDO:equivalentTo"}
xref: UMLS:C0020499 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:178311", source="MONDO:equivalentTo"}
is_a: MONDO:0005554 {source="Orphanet:178311"} ! rheumatologic disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: exactMatch http://identifiers.org/snomedct/766711009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0020499
property_value: exactMatch Orphanet:178311

[Term]
id: MONDO:0044406
name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome
subset: ordo_malformation_syndrome
synonym: "Stoll-Alembik-Finck syndrome" EXACT [Orphanet:3200]
xref: GARD:0005029 {source="MONDO:equivalentTo"}
xref: Orphanet:3200 {source="MONDO:equivalentTo"}
is_a: MONDO:0019287 {source="MONDOLEX:0044406", source="Orphanet:3200"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019942 {source="Orphanet:3200"} ! distal arthrogryposis
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1866427
property_value: exactMatch Orphanet:3200

[Term]
id: MONDO:0044617
name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
subset: ordo_malformation_syndrome
xref: Orphanet:482606 {source="MONDO:equivalentTo"}
is_a: MONDO:0015226 ! syndrome with limb malformations as a major feature
is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:482606"} ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0018609 {source="Orphanet:482606"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019274 {source="Orphanet:482606"} ! other epidermal disorder
is_a: MONDO:0019275 {source="Orphanet:482606"} ! other genetic epidermal disease
is_a: MONDO:0019690 {source="Orphanet:482606"} ! filamin-related bone disorder
is_a: MONDO:0024255 ! genetic skin disease
property_value: exactMatch Orphanet:482606

[Term]
id: MONDO:0044618
name: CLCN4-related X-linked intellectual disability syndrome
subset: ordo_malformation_syndrome
xref: Orphanet:485350 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="Orphanet:485350"} ! X-linked syndromic intellectual disability
property_value: exactMatch Orphanet:485350

[Term]
id: MONDO:0044619
name: propylthiouracil embryofetopathy
def: "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." [Orphanet:485358]
subset: ordo_malformation_syndrome
synonym: "propylthiouracil embryopathy" EXACT [Orphanet:485358]
synonym: "PTU embryofetopathy" EXACT [Orphanet:485358]
synonym: "PTU embryopathy" EXACT [Orphanet:485358]
xref: Orphanet:485358 {source="MONDO:equivalentTo"}
is_a: MONDO:0015323 {source="Orphanet:485358"} ! teratogenic Pierre Robin syndrome
is_a: MONDO:0016677 {source="Orphanet:485358"} ! toxic or drug-related embryofetopathy
property_value: exactMatch Orphanet:485358

[Term]
id: MONDO:0044621
name: 16p12.1p12.3 triplication syndrome
def: "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." [Orphanet:485405]
subset: ordo_malformation_syndrome
synonym: "tetrasomy 16p12.1-p12.3" EXACT [Orphanet:485405]
synonym: "tetrasomy 16p12.1p12.3" EXACT [Orphanet:485405]
synonym: "trip(16)(p12.1p12.3)" EXACT [Orphanet:485405]
xref: Orphanet:485405 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:485405", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:485405

[Term]
id: MONDO:0044622
name: EMILIN-1-related connective tissue disease
subset: ordo_disease
xref: Orphanet:485418 {source="MONDO:equivalentTo"}
is_a: MONDO:0016134 {source="Orphanet:485418"} ! rare hereditary systemic disease with peripheral neuropathy
property_value: exactMatch Orphanet:485418

[Term]
id: MONDO:0044624
name: pediatric collagenous gastritis
subset: ordo_disease
synonym: "childhood-onset collagenous gastritis" EXACT [Orphanet:487809]
xref: Orphanet:487809 {source="MONDO:equivalentTo"}
is_a: MONDO:0015111 {source="Orphanet:487809"} ! gastroesophageal disease
property_value: exactMatch Orphanet:487809

[Term]
id: MONDO:0044625
name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
subset: ordo_disease
synonym: "CMT2 due to DGAT2 mutation" EXACT [Orphanet:487814]
xref: Orphanet:487814 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="Orphanet:487814"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch Orphanet:487814

[Term]
id: MONDO:0044626
name: female infertility due to oocyte meiotic arrest
subset: ordo_disease
xref: Orphanet:488191 {source="MONDO:equivalentTo"}
is_a: MONDO:0018444 {source="MONDO:Redundant", source="Orphanet:488191"} ! female infertility due to fertilization defect
property_value: exactMatch Orphanet:488191

[Term]
id: MONDO:0044627
name: acute macular neuroretinopathy
subset: ordo_disease
synonym: "AMNR" EXACT [Orphanet:488239]
xref: Orphanet:488239 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease or disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: exactMatch Orphanet:488239

[Term]
id: MONDO:0044628
name: six2-related frontonasal dysplasia
subset: ordo_malformation_syndrome
synonym: "SIX2-related FND" EXACT [Orphanet:488437]
xref: Orphanet:488437 {source="MONDO:equivalentTo"}
is_a: MONDO:0016643 {source="Orphanet:488437"} ! frontonasal dysplasia
property_value: exactMatch Orphanet:488437

[Term]
id: MONDO:0044629
name: congenital amyoplasia
subset: ordo_malformation_syndrome
synonym: "amyoplasia congenita" EXACT [Orphanet:488586]
xref: Orphanet:488586 {source="MONDO:equivalentTo"}
is_a: MONDO:0015225 {source="Orphanet:488586"} ! arthrogryposis syndrome
property_value: exactMatch Orphanet:488586

[Term]
id: MONDO:0044630
name: obsolete rere-related neurodevelopmental syndrome
is_obsolete: true
replaced_by: MONDO:0014857

[Term]
id: MONDO:0044631
name: early-onset familial noncirrhotic portal hypertension
subset: ordo_disease
xref: Orphanet:494348 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 {source="Orphanet:494348"} ! liver disease
relationship: has_modifier MONDO:0021136 {source="MONDO:0015113", source="MONDO:0015507"} ! rare
property_value: exactMatch Orphanet:494348

[Term]
id: MONDO:0044632
name: extracranial carotid artery aneurysm
subset: ordo_morphological_anomaly
synonym: "ECAA" EXACT [Orphanet:494424]
synonym: "Ecca" EXACT [Orphanet:494424]
xref: Orphanet:494424 {source="MONDO:equivalentTo"}
is_a: MONDO:0018723 {source="Orphanet:494424"} ! rare vascular malformation of major vessels
property_value: exactMatch Orphanet:494424

[Term]
id: MONDO:0044633
name: idiopathic pleuroparenchymal fibroelastosis
subset: ordo_disease
synonym: "idiopathic pleuropulmonary fibroelastosis" EXACT [Orphanet:494428]
synonym: "IPPFE" EXACT [Orphanet:494428]
xref: Orphanet:494428 {source="MONDO:equivalentTo"}
is_a: MONDO:0002429 {source="Orphanet:494428"} ! idiopathic interstitial pneumonia
property_value: exactMatch Orphanet:494428

[Term]
id: MONDO:0044634
name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
subset: ordo_malformation_syndrome
synonym: "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" EXACT [Orphanet:494439]
xref: OMIM:617763 {source="MONDO:equivalentTo", source="Orphanet:494439"}
xref: Orphanet:494439 {source="MONDO:equivalentTo"}
xref: UMLS:C4540367 {source="MONDO:equivalentTo"}
is_a: MONDO:0015329 {source="Orphanet:494439"} ! malformation syndrome with short stature
is_a: MONDO:0019589 {source="Orphanet:494439"} ! syndromic genetic deafness
is_a: MONDO:0020240 {source="Orphanet:494439"} ! syndromic retinitis pigmentosa
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:494439"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch http://identifiers.org/omim/617763
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540367
property_value: exactMatch Orphanet:494439

[Term]
id: MONDO:0044635
name: diaph1-related sensorineural hearing loss-thrombocytopenia syndrome
subset: ordo_disease
synonym: "DIAPH1-related sensorineural deafness-thrombocytopenia syndrome" EXACT [Orphanet:494444]
xref: Orphanet:494444 {source="MONDO:equivalentTo"}
is_a: MONDO:0009332 ! congenital hematological disorder
is_a: MONDO:0018795 {source="Orphanet:494444"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0019589 {source="Orphanet:494444"} ! syndromic genetic deafness
property_value: exactMatch Orphanet:494444

[Term]
id: MONDO:0044636
name: rare hyperkinetic movement disorder
subset: obsoletion_candidate
subset: ordo_group_of_disorders
xref: Orphanet:494457 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="Orphanet:494457"} ! movement disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare
property_value: exactMatch Orphanet:494457
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI

[Term]
id: MONDO:0044637
name: infantile-onset generalized dyskinesia with orofacial involvement
subset: ordo_disease
synonym: "infantile-onset orofacial-trunk-limbs dyskinesia" EXACT [Orphanet:494526]
xref: Orphanet:494526 {source="MONDO:equivalentTo"}
is_a: MONDO:0015990 {source="Orphanet:494526"} ! focal, segmental or multifocal dystonia
property_value: exactMatch Orphanet:494526

[Term]
id: MONDO:0044638
name: hypopharynx squamous cell carcinoma
def: "A squamous cell carcinoma that involves the hypopharynx." [MONDO:patterns/location]
subset: ordo_disease
synonym: "epidermoid carcinoma of hypopharynx" EXACT [NCIT:C4043]
synonym: "epidermoid carcinoma of the hypopharynx" EXACT [NCIT:C4043]
synonym: "hypopharyngeal epidermoid carcinoma" EXACT [NCIT:C4043]
synonym: "hypopharyngeal squamous cell carcinoma" EXACT [NCIT:C4043]
synonym: "hypopharyngeal throat squamous cell cancer" EXACT [NCIT:C4043]
synonym: "squamous cell carcinoma of hypopharynx" EXACT [NCIT:C4043]
synonym: "squamous cell carcinoma of the hypopharynx" RELATED [Orphanet:494547]
xref: EFO:1001960 {source="MONDO:equivalentTo"}
xref: NCIT:C4043 {source="MONDO:equivalentTo"}
xref: ONCOTREE:HPHSC {source="MONDO:equivalentTo"}
xref: Orphanet:494547 {source="MONDO:equivalentTo"}
is_a: MONDO:0000536 ! pharyngeal squamous cell carcinoma
is_a: MONDO:0005216 ! hypopharyngeal carcinoma
is_a: MONDO:0020035 {source="Orphanet:494547"} ! rare otorhinolaryngologic tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0280321
property_value: exactMatch NCIT:C4043
property_value: exactMatch Orphanet:494547

[Term]
id: MONDO:0044640
name: charcot-marie-tooth disease type 2T
subset: ordo_disease
synonym: "AR-CMT2T" EXACT [Orphanet:495274]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [Orphanet:495274]
synonym: "CMT2T" EXACT [Orphanet:495274]
xref: Orphanet:495274 {source="MONDO:equivalentTo"}
xref: UMLS:CN237675 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="MONDOLEX"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0019601 {source="MONDOLEX:0044640", source="Orphanet:495274"} ! autosomal recessive axonal hereditary motor and sensory neuropathy
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN237675
property_value: exactMatch Orphanet:495274

[Term]
id: MONDO:0044641
name: 9q33.3q34.11 microdeletion syndrome
subset: ordo_malformation_syndrome
synonym: "9q33.3-q34.11 microdeletion syndrome" EXACT [Orphanet:495818]
synonym: "Del(9)(q33.3q34.11)" EXACT [Orphanet:495818]
synonym: "deletion 9q33.3q34.11" EXACT [Orphanet:495818]
synonym: "monosomy 9q33.3-q34.11" EXACT [Orphanet:495818]
synonym: "monosomy 9q33.3q34.11" EXACT [Orphanet:495818]
xref: Orphanet:495818 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:495818", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:495818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015652 {source="Orphanet:495818"} ! chromosomal anomaly with epilepsy as a major feature
is_a: MONDO:0016908 {source="Orphanet:495818"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0019285 {source="Orphanet:495818"} ! syndromic nail anomaly
is_a: MONDO:0019712 {source="Orphanet:495818"} ! patellar dysostosis
is_a: MONDO:0020274 {source="Orphanet:495818"} ! onycho-patellar syndrome with eye involvement
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch Orphanet:495818

[Term]
id: MONDO:0044642
name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy
subset: ordo_disease
synonym: "C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:495844]
synonym: "hypomyelinating leukodystrophy due to hikeshi deficiency" EXACT [Orphanet:495844]
xref: Orphanet:495844 {source="MONDO:equivalentTo"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0017333 {source="Orphanet:495844"} ! hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
is_a: MONDO:0018609 {source="Orphanet:495844"} ! syndromic hereditary optic neuropathy
property_value: exactMatch Orphanet:495844

[Term]
id: MONDO:0044643
name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
subset: ordo_malformation_syndrome
synonym: "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" EXACT [Orphanet:495875]
xref: Orphanet:495875 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:495875", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:495875"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015620 {source="Orphanet:495875"} ! syndromic urogenital tract malformation
is_a: MONDO:0017118 {source="Orphanet:495875"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0020215 {source="Orphanet:495875"} ! syndromic corneal dystrophy
property_value: exactMatch Orphanet:495875

[Term]
id: MONDO:0044644
name: congenital agenesis of the scrotum
subset: ordo_morphological_anomaly
synonym: "congenital absence of the scrotum" EXACT [Orphanet:495879]
synonym: "congenital scrotal absence" EXACT [Orphanet:495879]
synonym: "congenital scrotal agenesis" EXACT [Orphanet:495879]
xref: Orphanet:495879 {source="MONDO:equivalentTo"}
is_a: MONDO:0015933 {source="Orphanet:495879"} ! non-syndromic urogenital tract malformation of male
property_value: exactMatch Orphanet:495879

[Term]
id: MONDO:0044645
name: familial monosomy 7 syndrome
subset: ordo_disease
xref: Orphanet:495930 {source="MONDO:equivalentTo"}
is_a: MONDO:0018881 {source="Orphanet:495930"} ! myelodysplastic syndrome
property_value: exactMatch Orphanet:495930

[Term]
id: MONDO:0044646
name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
subset: ordo_malformation_syndrome
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" EXACT [MONDO:0014964, OMIM:617193]
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" EXACT [MONDOLEX:0014964]
synonym: "PEBAT" EXACT ABBREVIATION [MONDOLEX:0014964, OMIM:617193]
xref: OMIM:617193 {source="Orphanet:496641", source="MONDO:equivalentTo"}
xref: Orphanet:496641 {source="MONDO:equivalentTo"}
xref: UMLS:C4310671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496641", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015159 {source="Orphanet:496641"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018609 {source="Orphanet:496641"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0024237 {source="Orphanet:496641", source="indirect"} ! inherited neurodegenerative disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0005559 {source="Orphanet:496641", source="indirect"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:496641"} ! monogenic epilepsy
property_value: exactMatch http://identifiers.org/omim/617193
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310671
property_value: exactMatch Orphanet:496641

[Term]
id: MONDO:0044647
name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
subset: ordo_disease
xref: Orphanet:496686 {source="MONDO:equivalentTo"}
is_a: MONDO:0018943 {source="Orphanet:496686"} ! myofibrillar myopathy (disease)
property_value: exactMatch Orphanet:496686

[Term]
id: MONDO:0044648
name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
subset: ordo_disease
synonym: "kyphoscoliosis-lateral tongue atrophy-HSP syndrome" EXACT [Orphanet:496689]
xref: Orphanet:496689 {source="MONDO:equivalentTo"}
is_a: MONDO:0015089 {source="Orphanet:496689"} ! autosomal recessive complex spastic paraplegia
property_value: exactMatch Orphanet:496689

[Term]
id: MONDO:0044649
name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
subset: ordo_malformation_syndrome
synonym: "Gershoni-Baruch syndrome" EXACT [Orphanet:496693]
xref: Orphanet:496693 {source="MONDO:equivalentTo"}
is_a: MONDO:0015216 {source="Orphanet:496693"} ! syndromic diaphragmatic or abdominal wall malformation
is_a: MONDO:0015506 {source="Orphanet:496693"} ! rare syndrome with cardiac malformations
is_a: MONDO:0015880 {source="Orphanet:496693"} ! syndromic diaphragmatic or thoracic malformation
is_a: MONDO:0017432 {source="Orphanet:496693"} ! syndrome with limb reduction defects
is_a: MONDO:0018455 ! dysostosis of genetic origin with limb anomaly as a major feature
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:496693"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch Orphanet:496693

[Term]
id: MONDO:0044651
name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
subset: ordo_disease
xref: Orphanet:496756 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496756", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015363 {source="Orphanet:496756"} ! autosomal recessive distal hereditary motor neuropathy
is_a: MONDO:0018307 {source="Orphanet:496756"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0020046 {source="Orphanet:496756"} ! autosomal recessive degenerative and progressive cerebellar ataxia
property_value: exactMatch Orphanet:496756

[Term]
id: MONDO:0044652
name: optic atrophy-peripheral neuropathy-developmental delay syndrome
subset: ordo_disease
synonym: "Harel-Yoon syndrome" EXACT [Orphanet:496790]
xref: Orphanet:496790 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496790", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016133 {source="Orphanet:496790"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016327 {source="Orphanet:496790"} ! mitochondrial disease with hypertrophic cardiomyopathy
is_a: MONDO:0016803 {source="Orphanet:496790"} ! unspecified inborn mitochondrial disorder
is_a: MONDO:0018609 {source="Orphanet:496790"} ! syndromic hereditary optic neuropathy
property_value: exactMatch Orphanet:496790

[Term]
id: MONDO:0044655
name: c12orf65-related combined oxidative phosphorylation defect
subset: ordo_group_of_disorders
synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623]
xref: Orphanet:497623 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0018157 {source="Orphanet:497623"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis
is_a: MONDO:0018609 {source="Orphanet:497623"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019058 {source="Orphanet:497623"} ! neurometabolic disease
property_value: exactMatch Orphanet:497623

[Term]
id: MONDO:0044656
name: epidermolytic nevus
subset: ordo_disease
synonym: "Epidermal nevus with epidermolytic hyperkeratosis" EXACT [Orphanet:497737]
synonym: "epidermolytic epidermal nevus" EXACT [Orphanet:497737]
synonym: "epidermolytic verrucous epidermal nevus" EXACT [Orphanet:497737]
xref: Orphanet:497737 {source="MONDO:equivalentTo"}
xref: SCTID:400142003 {source="MONDO:equivalentTo"}
xref: UMLS:C1302848 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0017266 {source="Orphanet:497737"} ! keratinopathic ichthyosis
property_value: exactMatch http://identifiers.org/snomedct/400142003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1302848
property_value: exactMatch Orphanet:497737

[Term]
id: MONDO:0044657
name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
subset: ordo_disease
synonym: "MME-related autosomal dominant CMT2" EXACT [Orphanet:497757]
synonym: "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2" EXACT [Orphanet:497757]
xref: Orphanet:497757 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="Orphanet:497757"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch Orphanet:497757

[Term]
id: MONDO:0044660
name: menstrual cycle-dependent periodic fever
subset: ordo_disease
synonym: "luteal-phase-dependent febrile episode" EXACT [Orphanet:498251]
synonym: "luteal-phase-dependent periodic fever" EXACT [Orphanet:498251]
synonym: "menstrual cycle-dependent febrile episode" EXACT [Orphanet:498251]
xref: Orphanet:498251 {source="MONDO:equivalentTo"}
is_a: MONDO:0015860 {source="Orphanet:498251"} ! anomaly of puberty or/and menstrual cycle
property_value: exactMatch Orphanet:498251

[Term]
id: MONDO:0044663
name: aquagenic palmoplantar keratoderma
def: "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers , which suggest that it may be caused by mutations in the CFTR gene . It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting ( marasmus ) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib . In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis ." [GARD:0012991]
subset: gard_rare
subset: ordo_disease
synonym: "aquagenic keratoderma" EXACT [Orphanet:498359]
synonym: "aquagenic palmoplantar keratoderma" EXACT [GARD:0012991]
synonym: "aquagenic syringeal acrokeratoderma" EXACT [Orphanet:498359]
synonym: "aquagenic wrinkling of the hands" RELATED [GARD:0012991]
synonym: "aquagenic wrinkling of the palms" EXACT [GARD:0012991, Orphanet:498359]
synonym: "Transient reactive papulotranslucent acrokeratoderma" RELATED [GARD:0012991]
synonym: "transient reactive papulotranslucent acrokeratoderma" EXACT [Orphanet:498359]
xref: GARD:0012991 {source="MONDO:equivalentTo"}
xref: Orphanet:498359 {source="MONDO:equivalentTo"}
is_a: MONDO:0006590 {source="MONDOLEX:0044663"} ! palmoplantar keratosis
is_a: MONDO:0019274 {source="Orphanet:498359"} ! other epidermal disorder
property_value: exactMatch Orphanet:498359

[Term]
id: MONDO:0044675
name: LRP5-related primary osteoporosis
subset: ordo_malformation_syndrome
xref: Orphanet:498481 {source="MONDO:equivalentTo"}
is_a: MONDO:0019704 {source="Orphanet:498481"} ! primary bone dysplasia with decreased bone density
property_value: exactMatch Orphanet:498481

[Term]
id: MONDO:0044680
name: short rib-polydactyly syndrome type 5
subset: ordo_malformation_syndrome
xref: Orphanet:498497 {source="MONDO:equivalentTo"}
is_a: MONDO:0015461 {source="MONDOLEX:0044680", source="Orphanet:498497"} ! short rib-polydactyly syndrome
property_value: exactMatch Orphanet:498497

[Term]
id: MONDO:0044682
name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
subset: ordo_disease
synonym: "MYBPC1-related autosomal recessive non-lethal AMC syndrome" EXACT [Orphanet:498693]
xref: Orphanet:498693 {source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:498693"} ! arthrogryposis multiplex congenita
property_value: exactMatch Orphanet:498693

[Term]
id: MONDO:0044683
name: limbic encephalitis with neurexin-3 antibodies
subset: ordo_disease
xref: Orphanet:498700 {source="MONDO:equivalentTo"}
is_a: MONDO:0015594 {source="Orphanet:498700"} ! non-paraneoplastic limbic encephalitis
property_value: exactMatch Orphanet:498700

[Term]
id: MONDO:0044684
name: tuberculous meningitis
subset: ordo_disease
synonym: "TBM" EXACT [Orphanet:499004]
synonym: "tubercular meningitis" EXACT [Orphanet:499004]
xref: Orphanet:499004 {source="MONDO:equivalentTo"}
xref: SCTID:58437007 {source="MONDO:equivalentTo"}
is_a: MONDO:0003619 ! salpingitis
is_a: MONDO:0006670 ! bacterial meningitis
property_value: exactMatch http://identifiers.org/snomedct/58437007
property_value: exactMatch Orphanet:499004

[Term]
id: MONDO:0044685
name: autoimmune/inflammatory optic neuropathy
subset: ordo_group_of_disorders
xref: Orphanet:499047 {source="MONDO:equivalentTo"}
is_a: MONDO:0015937 {source="Orphanet:499047"} ! rare inflammatory eye disease
property_value: exactMatch Orphanet:499047

[Term]
id: MONDO:0044687
name: chronic relapsing inflammatory optic neuropathy
subset: ordo_disease
synonym: "chronic recurrent isolated optic neuritis" EXACT [Orphanet:499085]
synonym: "CRION" EXACT [Orphanet:499085]
xref: Orphanet:499085 {source="MONDO:equivalentTo"}
is_a: MONDO:0044685 {source="Orphanet:499085"} ! autoimmune/inflammatory optic neuropathy
property_value: exactMatch Orphanet:499085

[Term]
id: MONDO:0044688
name: isolated optic neuritis
subset: ordo_disease
synonym: "ion" EXACT [Orphanet:499096]
xref: Orphanet:499096 {source="MONDO:equivalentTo"}
is_a: MONDO:0044685 {source="Orphanet:499096"} ! autoimmune/inflammatory optic neuropathy
relationship: has_modifier MONDO:0021128 ! has an isolated presentation
property_value: exactMatch Orphanet:499096

[Term]
id: MONDO:0044689
name: recurrent idiopathic neuroretinitis
subset: ordo_disease
synonym: "RINR" EXACT [Orphanet:499103]
xref: Orphanet:499103 {source="MONDO:equivalentTo"}
is_a: MONDO:0044685 {source="Orphanet:499103"} ! autoimmune/inflammatory optic neuropathy
property_value: exactMatch Orphanet:499103

[Term]
id: MONDO:0044690
name: optic perineuritis
subset: ordo_disease
synonym: "OPN" EXACT [Orphanet:499107]
xref: Orphanet:499107 {source="MONDO:equivalentTo"}
xref: SCTID:713417000 {source="MONDO:equivalentTo"}
xref: UMLS:C4076165 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0044685 {source="Orphanet:499107"} ! autoimmune/inflammatory optic neuropathy
property_value: exactMatch http://identifiers.org/snomedct/713417000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4076165
property_value: exactMatch Orphanet:499107

[Term]
id: MONDO:0044696
name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
subset: ordo_malformation_syndrome
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [OMIM:617669]
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity; PEBAS" RELATED [OMIM:617669]
synonym: "PEBAS" RELATED [OMIM:617669]
xref: OMIM:617669 {source="MONDO:equivalentTo", source="Orphanet:500144"}
xref: Orphanet:500144 {source="OMIM:617669", source="MONDO:equivalentTo"}
xref: UMLS:CN474476 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500144", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:500144"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017120 {source="Orphanet:500144"} ! other syndrome with a central nervous system malformation as major feature
is_a: MONDO:0019589 {source="Orphanet:500144"} ! syndromic genetic deafness
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540059
property_value: exactMatch http://identifiers.org/omim/617669
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN474476
property_value: exactMatch Orphanet:500144

[Term]
id: MONDO:0044699
name: SIN3A-related intellectual disability syndrome
subset: ordo_malformation_syndrome
xref: Orphanet:500163 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500163", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:500163"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch Orphanet:500163

[Term]
id: MONDO:0044700
name: SIN3A-related intellectual disability syndrome due to a point mutation
subset: ordo_etiological_subtype
xref: Orphanet:500166 {source="MONDO:equivalentTo"}
is_a: MONDO:0044699 {source="Orphanet:500166"} ! SIN3A-related intellectual disability syndrome
property_value: exactMatch Orphanet:500166

[Term]
id: MONDO:0044701
name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
subset: ordo_disease
synonym: "CONDBA" RELATED [OMIM:617672]
synonym: "neurodegeneration, childhood-onset, with brain atrophy" RELATED [OMIM:617672]
synonym: "neurodegeneration, childhood-onset, with brain atrophy; CONDBA" RELATED [OMIM:617672]
synonym: "UBTF-related disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: OMIM:617672 {source="MONDO:equivalentTo", source="Orphanet:500180"}
xref: Orphanet:500180 {source="MONDO:equivalentTo", source="OMIM:617672"}
xref: UMLS:CN469330 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500180", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:500180"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017118 {source="Orphanet:500180"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0017662 {source="Orphanet:500180"} ! miscellaneous movement disorder due to genetic neurodegenerative disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540086
property_value: exactMatch http://identifiers.org/omim/617672
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN469330
property_value: exactMatch Orphanet:500180

[Term]
id: MONDO:0044702
name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
subset: ordo_malformation_syndrome
synonym: "deafness, X-linked 7" EXACT [OMIM:301018]
synonym: "deafness, X-linked 7; DFNX7" EXACT [OMIM:301018]
synonym: "DFNX7" EXACT [OMIM:301018]
xref: OMIM:301018 {source="MONDO:equivalentTo"}
xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"}
is_a: MONDO:0015502 {source="Orphanet:500188"} ! pinnae and external auditory canal anomaly
is_a: MONDO:0019589 {source="Orphanet:500188"} ! syndromic genetic deafness
is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4746975
property_value: exactMatch http://identifiers.org/omim/301018
property_value: exactMatch Orphanet:500188

[Term]
id: MONDO:0044704
name: oropharynx squamous cell carcinoma
def: "A squamous cell carcinoma that involves the oropharynx." [MONDO:patterns/location]
subset: ordo_disease
synonym: "epidermoid carcinoma of oropharynx" EXACT [NCIT:C8181]
synonym: "epidermoid carcinoma of the oropharynx" EXACT [NCIT:C8181]
synonym: "oropharyngeal epidermoid carcinoma" EXACT [NCIT:C8181]
synonym: "oropharyngeal squamous cell carcinoma" EXACT [NCIT:C8181]
synonym: "oropharyngeal throat squamous cell cancer" EXACT [NCIT:C8181]
synonym: "squamous cell carcinoma of oropharynx" EXACT [NCIT:C8181]
synonym: "squamous cell carcinoma of the oropharynx" RELATED [Orphanet:500478]
xref: NCIT:C8181 {source="MONDO:equivalentTo"}
xref: ONCOTREE:OPHSC {source="MONDO:equivalentTo"}
xref: Orphanet:500478 {source="MONDO:equivalentTo"}
is_a: MONDO:0000536 ! pharyngeal squamous cell carcinoma
is_a: MONDO:0020035 {source="Orphanet:500478"} ! rare otorhinolaryngologic tumor
is_a: MONDO:0044926 ! oropharyngeal carcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0280313
property_value: exactMatch NCIT:C8181
property_value: exactMatch Orphanet:500478

[Term]
id: MONDO:0044705
name: paranasal sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C8193]
subset: ordo_disease
synonym: "epidermoid carcinoma of paranasal sinus" EXACT [NCIT:C8193]
synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C8193]
synonym: "paranasal sinus epidermoid carcinoma" EXACT [NCIT:C8193]
synonym: "paranasal sinus squamous cell carcinoma" EXACT [NCIT:C8193]
synonym: "squamous cell carcinoma of paranasal sinus" EXACT [NCIT:C8193]
synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [Orphanet:500464]
synonym: "squamous cell carcinoma of the nasal cavity and sinuses" EXACT [Orphanet:500464]
synonym: "squamous cell carcinoma of the paranasal sinus" EXACT [NCIT:C8193]
xref: NCIT:C8193 {source="MONDO:equivalentTo"}
xref: Orphanet:500464 {source="MONDO:equivalentTo"}
xref: UMLS:C0280334 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"}
is_a: MONDO:0000380 {source="MONDO:Redundant", source="MONDOLEX:0044705", source="NCIT:C8193"} ! paranasal sinus carcinoma
is_a: MONDO:0000514 ! bone squamous cell carcinoma
is_a: MONDO:0010150 ! head and neck squamous cell carcinoma
is_a: MONDO:0020035 {source="Orphanet:500464"} ! rare otorhinolaryngologic tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280334
property_value: exactMatch NCIT:C8193
property_value: exactMatch Orphanet:500464

[Term]
id: MONDO:0044709
name: cochleovestibular dysplasia
subset: ordo_morphological_anomaly
xref: Orphanet:502305 {source="MONDO:equivalentTo"}
is_a: MONDO:0015604 {source="Orphanet:502305"} ! middle ear anomaly
property_value: exactMatch Orphanet:502305

[Term]
id: MONDO:0044710
name: lip and oral cavity squamous cell carcinoma
def: "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." [NCIT:C42690]
subset: ordo_group_of_disorders
synonym: "lip and oral cavity squamous cell cancer" EXACT [NCIT:C42690]
synonym: "lip and oral cavity squamous cell carcinoma" EXACT [NCIT:C42690]
synonym: "lip/oral cavity squam. cell car." EXACT [NCIT:C42690]
synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [Orphanet:502369]
xref: NCIT:C42690 {source="MONDO:equivalentTo"}
xref: Orphanet:502369 {source="MONDO:equivalentTo"}
xref: UMLS:C0280297 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C42690"} ! head and neck squamous cell carcinoma
is_a: MONDO:0020035 {source="Orphanet:502369"} ! rare otorhinolaryngologic tumor
is_a: MONDO:0023644 {source="MONDO:Redundant", source="NCIT:C42690"} ! lip and oral cavity carcinoma
intersection_of: MONDO:0010150 {source="NCIT:C42690"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0023644 {source="NCIT:C42690"} ! lip and oral cavity carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280297
property_value: exactMatch NCIT:C42690
property_value: exactMatch Orphanet:502369

[Term]
id: MONDO:0044714
name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
subset: ordo_disease
synonym: "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" EXACT [Orphanet:502423]
synonym: "MMYAT" RELATED [OMIM:617675]
synonym: "myopathy, mitochondrial, and ataxia" RELATED [OMIM:617675]
synonym: "myopathy, mitochondrial, and ataxia; MMYAT" RELATED [OMIM:617675]
xref: OMIM:617675 {source="Orphanet:502423", source="MONDO:equivalentTo"}
xref: Orphanet:502423 {source="MONDO:equivalentTo", source="OMIM:617675"}
xref: UMLS:CN484737 {source="MONDO:equivalentTo"}
is_a: MONDO:0000557 {source="Orphanet:502423"} ! hereditary ataxia
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 {source="Orphanet:502423"} ! inborn mitochondrial myopathy
is_a: MONDO:0016803 {source="Orphanet:502423"} ! unspecified inborn mitochondrial disorder
is_a: MONDO:0017663 ! inherited tremor disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540096
property_value: exactMatch http://identifiers.org/omim/617675
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN484737
property_value: exactMatch Orphanet:502423

[Term]
id: MONDO:0044715
name: metopic ridging-ptosis-facial dysmorphism syndrome
subset: ordo_malformation_syndrome
xref: Orphanet:502430 {source="MONDO:equivalentTo"}
is_a: MONDO:0015338 {source="Orphanet:502430"} ! syndromic craniosynostosis
is_a: MONDO:0020169 {source="Orphanet:502430"} ! rare disorder with ptosis
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:502430"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch Orphanet:502430

[Term]
id: MONDO:0044716
name: obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
is_obsolete: true
replaced_by: MONDO:0030912

[Term]
id: MONDO:0044717
name: 4q25 proximal deletion syndrome
subset: ordo_malformation_syndrome
synonym: "proximal del(4)(q25)" EXACT [Orphanet:502437]
synonym: "proximal monosomy 4q25" EXACT [Orphanet:502437]
xref: Orphanet:502437 {source="MONDO:equivalentTo"}
is_a: MONDO:0016903 {source="MONDOLEX:0044717", source="Orphanet:502437"} ! partial deletion of the long arm of chromosome 4
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:502437"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: exactMatch Orphanet:502437

[Term]
id: MONDO:0044718
name: alkaline ceramidase 3 deficiency
subset: ordo_disease
synonym: "ACER3-related early childhood-onset progressive leukodystrophy" EXACT [Orphanet:502444]
synonym: "leukodystrophy due to alkaline ceramidase 3 deficiency" EXACT [Orphanet:502444]
synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [OMIM:617762]
synonym: "leukodystrophy, progressive, early childhood-onset; PLDECO" RELATED [OMIM:617762]
synonym: "PLDECO" RELATED [OMIM:617762]
xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"}
xref: Orphanet:502444 {source="MONDO:equivalentTo", source="OMIM:617762"}
xref: UMLS:CN603947 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:502444"} ! leukodystrophy
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540358
property_value: exactMatch http://identifiers.org/omim/617762
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN603947
property_value: exactMatch Orphanet:502444

[Term]
id: MONDO:0044719
name: erythema multiforme major
def: "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." [NCIT:C3385]
subset: ordo_disease
synonym: "erythema exsudativum multiforme majus" EXACT [Orphanet:502499]
synonym: "erythema multiforme majus" EXACT [Orphanet:502499]
xref: NCIT:C3385 {source="MONDO:equivalentTo"}
xref: Orphanet:502499 {source="MONDO:equivalentTo"}
is_a: MONDO:0017396 {source="Orphanet:502499"} ! toxic dermatosis
property_value: exactMatch NCIT:C3385
property_value: exactMatch Orphanet:502499

[Term]
id: MONDO:0044720
name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
subset: ordo_disease
synonym: "CABV syndrome" EXACT [Orphanet:504476]
synonym: "CANVAS" EXACT [Orphanet:504476]
synonym: "cerebellar ataxia with bilateral vestibulopathy syndrome" EXACT [Orphanet:504476]
xref: Orphanet:504476 {source="MONDO:equivalentTo"}
is_a: MONDO:0016136 {source="Orphanet:504476"} ! cerebellar ataxia with peripheral neuropathy
is_a: MONDO:0018751 ! genetic otorhinolaryngologic disease
is_a: MONDO:0020047 {source="Orphanet:504476"} ! autosomal recessive syndromic cerebellar ataxia
property_value: exactMatch Orphanet:504476

[Term]
id: MONDO:0044721
name: severe combined immunodeficiency due to LAT deficiency
subset: ordo_disease
synonym: "IMD52" RELATED [OMIM:617514]
synonym: "immunodeficiency 52" RELATED [OMIM:617514]
synonym: "immunodeficiency 52; IMD52" RELATED [OMIM:617514]
synonym: "SCID due to LAT deficiency" EXACT [Orphanet:504523]
xref: OMIM:617514 {source="MONDO:equivalentTo", source="Orphanet:504523"}
xref: Orphanet:504523 {source="OMIM:617514", source="MONDO:equivalentTo"}
xref: UMLS:C4479588 {source="OMIM:617514", source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="Orphanet:504523"} ! T-B+ severe combined immunodeficiency
property_value: exactMatch http://identifiers.org/omim/617514
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479588
property_value: exactMatch Orphanet:504523

[Term]
id: MONDO:0044723
name: 3-methylglutaconic aciduria type 8
subset: ordo_disease
synonym: "3-methylglutaconic aciduria type VIII" RELATED [DOID:0070000]
synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [DOID:0070000]
synonym: "3-Methylglutaconic aciduria, type 8" RELATED [OMIM:617248]
synonym: "3-methylglutaconic aciduria, type VIII" EXACT [MONDO:0014988, OMIM:617248]
synonym: "3-methylglutaconic aciduria, type VIII; MGCA8" EXACT [MONDOLEX:0014988]
synonym: "MGA8" EXACT [Orphanet:505208]
synonym: "MGCA8" EXACT ABBREVIATION [MONDOLEX:0014988, OMIM:617248]
xref: DOID:0070000 {source="MONDO:equivalentTo"}
xref: OMIM:617248 {source="MONDO:equivalentTo"}
xref: Orphanet:505208 {source="MONDO:equivalentTo"}
xref: UMLS:C4310650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0017359 {source="DC-OMIM:617248", source="OMIM:617248", source="Orphanet:505208"} ! 3-methylglutaconic aciduria
is_a: MONDO:0019058 {source="Orphanet:505208"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: exactMatch DOID:0070000
property_value: exactMatch http://identifiers.org/omim/617248
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4310650
property_value: exactMatch Orphanet:505208

[Term]
id: MONDO:0044724
name: 3-methylglutaconic aciduria type 9
subset: ordo_disease
synonym: "3-Methylglutaconic aciduria, type 9" RELATED [OMIM:617698]
synonym: "3-METHYLGLUTACONIC aciduria, type IX; MGCA9" RELATED [OMIM:617698]
synonym: "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome" EXACT [Orphanet:505216]
synonym: "3-methylglutaconic acuduria type IX" RELATED [DOID:0070002]
synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [DOID:0070002]
synonym: "MGA9" EXACT [Orphanet:505216]
synonym: "MGCA9" RELATED [OMIM:617698]
xref: DOID:0070002 {source="MONDO:equivalentTo"}
xref: OMIM:617698 {source="MONDO:equivalentTo", source="Orphanet:505216"}
xref: Orphanet:505216 {source="OMIM:617698", source="MONDO:equivalentTo"}
xref: UMLS:CN510468 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505216", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0016399 {source="Orphanet:505216"} ! amino acid or protein metabolism disease with epilepsy
is_a: MONDO:0017359 {source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria
is_a: MONDO:0019058 {source="Orphanet:505216"} ! neurometabolic disease
is_a: MONDO:0019213 ! cerebral organic aciduria
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540171
property_value: exactMatch DOID:0070002
property_value: exactMatch http://identifiers.org/omim/617698
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN510468
property_value: exactMatch Orphanet:505216

[Term]
id: MONDO:0044725
name: combined immunodeficiency due to GINS1 deficiency
subset: ordo_disease
synonym: "Cid due to GINS1 deficiency" EXACT [Orphanet:505227]
synonym: "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" EXACT [Orphanet:505227]
synonym: "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia" EXACT [Orphanet:505227]
synonym: "IMD55" RELATED [OMIM:617827]
synonym: "immunodeficiency 55" RELATED [OMIM:617827]
synonym: "immunodeficiency 55; IMD55" RELATED [OMIM:617827]
xref: OMIM:617827 {source="MONDO:equivalentTo", source="Orphanet:505227"}
xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"}
xref: UMLS:CN737162 {source="MONDO:equivalentTo"}
is_a: MONDO:0015707 {source="Orphanet:505227"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies
property_value: exactMatch http://identifiers.org/omim/617827
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737162
property_value: exactMatch Orphanet:505227

[Term]
id: MONDO:0044726
name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
subset: ordo_disease
synonym: "BILAPES" RELATED [OMIM:617595]
synonym: "Birk-Landau-Perez syndrome" RELATED [OMIM:617595]
synonym: "Birk-Landau-Perez syndrome; BILAPES" RELATED [OMIM:617595]
synonym: "Cerebrorenal syndrome, Perez type" EXACT [Orphanet:505242]
xref: OMIM:617595 {source="MONDO:equivalentTo", source="Orphanet:505242"}
xref: Orphanet:505242 {source="MONDO:equivalentTo", source="OMIM:617595"}
xref: UMLS:CN353477 {source="MONDO:equivalentTo"}
is_a: MONDO:0004884 ! eye degenerative disease
is_a: MONDO:0015962 {source="Orphanet:505242"} ! inherited renal tubular disease
is_a: MONDO:0017764 {source="Orphanet:505242"} ! disorder of zinc metabolism
is_a: MONDO:0019744 {source="Orphanet:505242"} ! rare renal tubular disease
is_a: MONDO:0020258 {source="Orphanet:505242"} ! oculomotor apraxia or related oculomotor disease
is_a: MONDO:0024237 {source="Orphanet:505242", source="indirect"} ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539828
property_value: exactMatch http://identifiers.org/omim/617595
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN353477
property_value: exactMatch Orphanet:505242

[Term]
id: MONDO:0044727
name: pancreatic carcinoma with mixed differentiation
def: "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." [NCIT:C45843]
subset: ordo_disease
synonym: "MiNEN of pancreas" EXACT [Orphanet:506112]
synonym: "mixed exocrine-endocrine carcinoma of the pancreas" EXACT [NCIT:C45843]
synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [Orphanet:506112]
synonym: "pancreatic carcinoma with mixed differentiation" EXACT [NCIT:C45843]
synonym: "pancreatic MiNEN" EXACT [Orphanet:506112]
synonym: "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm" EXACT [Orphanet:506112]
xref: NCIT:C45843 {source="MONDO:equivalentTo"}
xref: Orphanet:506112 {source="MONDO:equivalentTo"}
xref: UMLS:C1709050 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C45843"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006182 {source="MONDO:Redundant", source="NCIT:C45843"} ! digestive system mixed adenoneuroendocrine carcinoma
intersection_of: MONDO:0005192 {source="NCIT:C45843"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0006182 {source="NCIT:C45843"} ! digestive system mixed adenoneuroendocrine carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709050
property_value: exactMatch NCIT:C45843
property_value: exactMatch Orphanet:506112

[Term]
id: MONDO:0044737
name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
subset: ordo_disease
synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [Orphanet:506353]
xref: Orphanet:506353 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506353", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0015089 {source="MONDOLEX:0044737", source="Orphanet:506353"} ! autosomal recessive complex spastic paraplegia
is_a: MONDO:0015905 ! syndromic dyslipidemia
is_a: MONDO:0018118 {source="Orphanet:506353"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
property_value: exactMatch Orphanet:506353

[Term]
id: MONDO:0044738
name: Gabriele de Vries syndrome
subset: ordo_malformation_syndrome
synonym: "Gabriele-De Vries syndrome" RELATED [OMIM:617557]
synonym: "Gabriele-de Vries syndrome; GADEVS" RELATED [OMIM:617557]
synonym: "GADEVS" RELATED [OMIM:617557]
synonym: "YY1 haploinsufficiency syndrome" EXACT [Orphanet:506358]
xref: OMIM:617557 {source="MONDO:equivalentTo", source="Orphanet:506358"}
xref: Orphanet:506358 {source="OMIM:617557", source="MONDO:equivalentTo"}
xref: UMLS:C4479652 {source="OMIM:617557", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506358", source="indirect"} ! syndromic intellectual disability
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:506358"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/617557
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479652
property_value: exactMatch Orphanet:506358

[Term]
id: MONDO:0044739
name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
subset: ordo_clinical_subtype
synonym: "SJS/TEN overlap syndrome" EXACT [Orphanet:506784]
synonym: "Stevens-Johnson/TEN overlap syndrome" EXACT [Orphanet:506784]
synonym: "Stevens-Johnson/toxic epidermal necrolysis overlap syndrome" EXACT [Orphanet:506784]
xref: ICD10:L51.8 {source="Orphanet:506784"}
xref: Orphanet:506784 {source="MONDO:equivalentTo"}
is_a: MONDO:0019810 {source="Orphanet:506784"} ! toxic epidermal necrolysis
property_value: exactMatch Orphanet:506784

[Term]
id: MONDO:0044740
name: salivary gland squamous cell carcinoma
def: "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." [NCIT:C7991]
subset: ordo_histopathological_subtype
synonym: "epidermoid carcinoma of salivary gland" EXACT [NCIT:C7991]
synonym: "epidermoid carcinoma of the salivary gland" EXACT [NCIT:C7991]
synonym: "saliva-secreting gland squamous cell carcinoma" EXACT []
synonym: "salivary gland epidermoid carcinoma" EXACT [NCIT:C7991]
synonym: "salivary gland SCC" EXACT [NCIT:C7991]
synonym: "salivary gland squamous cell cancer" EXACT [NCIT:C7991]
synonym: "salivary gland squamous cell carcinoma" EXACT [NCIT:C7991]
synonym: "SCC of salivary gland" EXACT [NCIT:C7991]
synonym: "SCC of the salivary gland" EXACT [NCIT:C7991]
synonym: "squamous cell carcinoma of salivary gland" EXACT [NCIT:C7991]
synonym: "squamous cell carcinoma of salivary glands" RELATED [Orphanet:500481]
synonym: "squamous cell carcinoma of the salivary gland" EXACT [NCIT:C7991]
xref: EFO:1001967 {source="MONDO:equivalentTo"}
xref: NCIT:C7991 {source="MONDO:equivalentTo"}
xref: Orphanet:500481 {source="MONDO:equivalentTo"}
xref: UMLS:C0279697 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="MONDOLEX:0044740", source="NCIT:C7991"} ! salivary gland carcinoma
is_a: MONDO:0004958 ! oral cavity squamous cell carcinoma
is_a: MONDO:0017167 {source="Orphanet:500481"} ! malignant epithelial tumor of salivary glands
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0279697
property_value: exactMatch NCIT:C7991
property_value: exactMatch Orphanet:500481

[Term]
id: MONDO:0044742
name: autosomal recessive epidermolytic ichthyosis
subset: ordo_disease
synonym: "AREI" EXACT [Orphanet:512103]
xref: Orphanet:512103 {source="MONDO:equivalentTo"}
is_a: MONDO:0007239 ! epidermolytic hyperkeratosis
is_a: MONDO:0017265 ! autosomal recessive congenital ichthyosis
property_value: exactMatch Orphanet:512103

[Term]
id: MONDO:0044743
name: major salivary gland cancer
def: "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4762]
synonym: "cancer of major salivary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant Major salivary gland neoplasm" EXACT [NCIT:C4762]
synonym: "malignant major salivary gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Major salivary gland tumor" EXACT [NCIT:C4762]
synonym: "malignant neoplasm of Major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant neoplasm of major salivary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of major salivary glands" RELATED []
synonym: "malignant neoplasm of the Major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant tumor of Major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant tumor of major salivary gland" EXACT []
synonym: "malignant tumor of the Major salivary gland" EXACT [NCIT:C4762]
xref: NCIT:C4762 {source="MONDO:equivalentTo"}
xref: SCTID:363378008 {source="MONDO:equivalentTo"}
xref: UMLS:C0496763 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4762"}
is_a: MONDO:0004669 {source="MONDO:Redundant", source="MONDOLEX:0044743", source="NCIT:C4762", source="linkedlifedata"} ! salivary gland cancer
is_a: MONDO:0021368 {source="MONDO:Redundant", source="MONDOLEX:0044743", source="NCIT:C4762", source="linkedlifedata"} ! neoplasm of major salivary gland
property_value: exactMatch http://identifiers.org/snomedct/363378008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0496763
property_value: exactMatch NCIT:C4762

[Term]
id: MONDO:0044744
name: prekallikrein deficiency
def: "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease." [NCIT:C99022]
synonym: "prekallikrein deficiency" EXACT [NCIT:C99022]
xref: NCIT:C99022 {source="MONDO:equivalentTo"}
xref: SCTID:48976006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.83"}
is_a: MONDO:0001531 {source="linkedlifedata/inferred"} ! blood coagulation disease
property_value: exactMatch http://identifiers.org/snomedct/48976006
property_value: exactMatch NCIT:C99022

[Term]
id: MONDO:0044745
name: nervous system injury
def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." [MESH:D020196]
synonym: "craniocervical Injuries" RELATED [MESH:D020196]
synonym: "craniocervical injury" RELATED [MESH:D020196]
synonym: "Injuries, craniocervical" RELATED [MESH:D020196]
synonym: "Injuries, nervous system" RELATED [MESH:D020196]
synonym: "injury of nervous system" EXACT [MONDO:design_pattern]
synonym: "injury, craniocervical" RELATED [MESH:D020196]
synonym: "injury, nervous system" RELATED [MESH:D020196]
synonym: "nervous system Injuries" RELATED [MESH:D020196]
synonym: "nervous system injury" EXACT [MESH:D020196, MONDO:patterns/location]
synonym: "nervous system trauma" RELATED [MESH:D020196]
synonym: "nervous system Traumas" RELATED [MESH:D020196]
xref: MESH:D020196 {source="MONDO:equivalentTo"}
xref: SCTID:128239009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MESH:D020196", source="MONDO:Redundant"} ! nervous system disorder
is_a: MONDO:0021178 {source="MESH:D020196", source="MONDO:Redundant"} ! injury
property_value: exactMatch http://identifiers.org/mesh/D020196
property_value: exactMatch http://identifiers.org/snomedct/128239009

[Term]
id: MONDO:0044746
name: zoonotic bacterial infection
def: "A bacterial infection that is transmitted from animals to people." [NCIT:C35373]
synonym: "Bacteria caused zoonoses" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria zoonoses" EXACT []
synonym: "zoonotic bacterial disease" EXACT [NCIT:C35373]
synonym: "zoonotic bacterial infection" EXACT [NCIT:C35373]
xref: NCIT:C35373 {source="MONDO:equivalentTo"}
xref: UMLS:C0311376 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MONDO:Redundant", source="NCIT:C35373"} ! bacterial infectious disease
is_a: MONDO:0025481 {source="MONDO:Redundant", source="NCIT:C35373"} ! zoonosis
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0311376
property_value: exactMatch NCIT:C35373

[Term]
id: MONDO:0044747
name: human anaplasmosis
def: "An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia." [NCIT:C128425]
synonym: "Anaplasmoses" EXACT [MESH:D000712]
synonym: "anaplasmosis" EXACT [NCIT:C128425]
synonym: "human anaplasmosis" EXACT []
xref: ICD9:082.49
xref: NCIT:C128425 {source="MONDO:equivalentTo"}
xref: SCTID:427481004 {source="MONDO:equivalentTo"}
is_a: MONDO:0025303 {source="linkedlifedata"} ! anaplasmosis
property_value: exactMatch http://identifiers.org/snomedct/427481004
property_value: exactMatch NCIT:C128425

[Term]
id: MONDO:0044748
name: anaplasmosis in cattle
def: "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." [MESH:D000712]
synonym: "Anaplasmoses" RELATED [MESH:D000712]
xref: MESH:D000712 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D000712", source="indirect"} ! non-human animal disease
is_a: MONDO:0025303 ! anaplasmosis
property_value: exactMatch http://identifiers.org/mesh/D000712

[Term]
id: MONDO:0044749
name: X-linked congenital stationary night blindness
def: "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina . People with this condition typically experience night blindness and other vision problems, including loss of sharpness ( reduced visual acuity ), severe nearsightedness (myopia), nystagmus ,and strabismus . Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." [GARD:0003995]
subset: gard_rare
synonym: "congenital stationary night blindness, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked CSNB" EXACT [GARD:0003995]
synonym: "XLCSNB" EXACT [GARD:0003995-def]
xref: GARD:0003995 {source="MONDO:equivalentTo", source="Orphanet-shared"}
xref: UMLS:CN043584 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0016293 ! congenital stationary night blindness
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN043584

[Term]
id: MONDO:0044750
name: lassa virus infectious disease
synonym: "infection caused by Lassa virus" EXACT []
synonym: "Lassa virus infection" EXACT []
xref: SCTID:721779001 {source="MONDO:equivalentTo"}
xref: UMLS:C1617072 {source="MONDO:equivalentTo"}
is_a: MONDO:0005650 {source="MONDO:Redundant", source="linkedlifedata"} ! Arenaviridae infectious disease
property_value: exactMatch http://identifiers.org/snomedct/721779001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1617072

[Term]
id: MONDO:0044751
name: chronic diarrheal disease
def: "Chronic form of diarrheal disease." [MONDO:patterns/chronic]
synonym: "chronic diarrhea" EXACT []
synonym: "diarrheal disease, chronic" EXACT [MONDO:patterns/chronic]
xref: SCTID:236071009 {source="MONDO:equivalentTo"}
xref: UMLS:C0401151 {source="MONDO:equivalentTo"}
is_a: MONDO:0001673 ! diarrheal disease
property_value: exactMatch http://identifiers.org/snomedct/236071009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0401151

[Term]
id: MONDO:0044753
name: lumbar spinal stenosis
def: "A spinal stenosis that involves the lumbar region of vertebral column." [MONDO:patterns/location]
synonym: "lumbar region of vertebral column spinal stenosis" EXACT [MONDO:patterns/location]
synonym: "lumbar spinal stenosis" EXACT []
synonym: "spinal stenosis of lumbar region" EXACT []
synonym: "spinal stenosis of lumbar region of vertebral column" EXACT []
xref: HP:0004610 {source="MONDO:otherHierarchy"}
xref: ICD9:724.02 {source="linkedlifedata"}
xref: SCTID:18347007 {source="MONDO:equivalentTo"}
xref: UMLS:C0158288 {source="MONDO:equivalentTo"}
is_a: MONDO:0005965 ! spinal stenosis
is_a: MONDO:0044965 ! abdominal and pelvic region disorder
property_value: exactMatch http://identifiers.org/snomedct/18347007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0158288

[Term]
id: MONDO:0044762
name: diarrheal disease secondary to increased bowel motility
def: "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "diarrhea from increased bowel motility" EXACT []
synonym: "motility-related diarrhea" BROAD [DOID:0050131]
xref: DOID:0050131 {source="MONDO:equivalentTo"}
is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility
property_value: exactMatch DOID:0050131

[Term]
id: MONDO:0044763
name: diarrheal disease secondary to decreased bowel motility
def: "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "diarrhea from decreased bowel motility" EXACT []
is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility

[Term]
id: MONDO:0044764
name: benign choroid plexus neoplasm
synonym: "benign choroid plexus neoplasm" EXACT [NCIT:C8405]
synonym: "benign choroid plexus neoplasms" EXACT [NCIT:C8405]
synonym: "benign choroid plexus tumor" EXACT [NCIT:C8405]
synonym: "benign choroid plexus tumors" EXACT [NCIT:C8405]
synonym: "benign neoplasm of choroid plexus" EXACT [NCIT:C8405]
synonym: "benign neoplasm of the choroid plexus" EXACT [NCIT:C8405]
synonym: "benign tumor of choroid plexus" EXACT [NCIT:C8405]
synonym: "benign tumor of the choroid plexus" EXACT [NCIT:C8405]
xref: NCIT:C8405 {source="MONDO:equivalentTo"}
xref: SCTID:254943007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346290 {source="MONDO:equivalentTo"}
is_a: MONDO:0000629 ! cardiovascular organ benign neoplasm
is_a: MONDO:0016717 {source="NCIT:C8405", source="linkedlifedata"} ! choroid plexus neoplasm
is_a: MONDO:0020676 ! disease of central nervous system or retinal vasculature
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C8405", source="linkedlifedata/inferred"} ! benign neoplasm of brain
is_a: MONDO:0024296 ! vascular neoplasm
is_a: MONDO:0043218 ! neurovascular disease
property_value: exactMatch http://identifiers.org/snomedct/254943007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346290
property_value: exactMatch NCIT:C8405

[Term]
id: MONDO:0044765
name: steroid-resistant nephrotic syndrome
def: "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." [NCIT:C122798]
synonym: "nephrotic syndrome of childhood - steroid resistant" EXACT [NCIT:C122798]
synonym: "nephrotic syndrome, idiopathic, steroid-resistant" NARROW [GTR:AN0096391]
synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" NARROW [GTR:AN0096395]
synonym: "nephrotic syndrome-steroid-resistant" EXACT [NCIT:C122798]
synonym: "NPHS2" RELATED [GTR:AN0200342]
synonym: "SRNS - steroid-resistant nephrotic syndrome" RELATED []
synonym: "steroid-resistant nephrotic syndrome" EXACT [GTR:AN0255485]
synonym: "steroid-unresponsive nephrotic syndrome" RELATED []
xref: GTR:AN0096391 {source="UMLS:CN034406"}
xref: GTR:AN0096395 {source="UMLS:CN034406"}
xref: GTR:AN0200342 {source="UMLS:CN034406"}
xref: GTR:AN0255485 {source="UMLS:CN034406"}
xref: NCIT:C122798 {source="MONDO:equivalentTo"}
xref: SCTID:236381000 {source="MONDO:equivalentTo"}
xref: UMLS:CN034406 {source="MONDO:equivalentTo"}
is_a: MONDO:0005377 {source="NCIT:C122798", source="linkedlifedata"} ! nephrotic syndrome
property_value: exactMatch http://identifiers.org/snomedct/236381000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN034406
property_value: exactMatch NCIT:C122798

[Term]
id: MONDO:0044766
name: obsolete Marfan Syndrome 3
synonym: "Marfan syndrome type 3" RELATED [GTR:AN0100577]
synonym: "MFS 3" RELATED [GTR:AN0100578]
xref: GTR:AN0100577 {source="UMLS:CN035813"}
xref: GTR:AN0100578 {source="UMLS:CN035813"}
xref: UMLS:CN035813 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"}
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN035813
is_obsolete: true

[Term]
id: MONDO:0044767
name: childhood adrenal gland pheochromocytoma
def: "A rare pheochromocytoma of the adrenal gland that occurs during childhood." [NCIT:C118822]
synonym: "childhood adrenal gland pheochromocytoma" EXACT [NCIT:C118822]
synonym: "malignant childhood adrenal gland pheochromocytoma" EXACT [DOID:0070325]
synonym: "pheochromocytoma, childhood" RELATED [GTR:AN0102113]
xref: DOID:0070325 {source="MONDO:equivalentTo"}
xref: GARD:0009368 {source="MONDO:equivalentTo"}
xref: GARD:9368 {source="DOID:0070325"}
xref: GTR:AN0102113 {source="UMLS:CN036354"}
xref: NCIT:C118822 {source="MONDO:equivalentTo", source="DOID:0070325"}
xref: UMLS:CN036354 {source="MONDO:equivalentTo"}
is_a: MONDO:0004974 {source="DOID:0070325", source="NCIT:C118822"} ! adrenal gland pheochromocytoma
is_a: MONDO:0021079 ! childhood neoplasm
property_value: exactMatch DOID:0070325
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036354
property_value: exactMatch NCIT:C118822

[Term]
id: MONDO:0044768
name: vagus nerve paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." [NCIT:C8427]
subset: gard_rare
synonym: "paraganglioma of the vagal body" EXACT [NCIT:C8427]
synonym: "paraganglioma of the vagus nerve" EXACT [NCIT:C8427]
synonym: "paraganglioma of vagal body" EXACT [NCIT:C8427]
synonym: "paraganglioma of vagus nerve" EXACT [NCIT:C8427]
synonym: "vagal body paraganglioma" EXACT [NCIT:C8427]
synonym: "vagal paraganglioma" EXACT [GARD:0008620, NCIT:C8427]
synonym: "vagus nerve paraganglioma" EXACT [MONDO:patterns/location, NCIT:C8427]
xref: EFO:1000621 {source="MONDO:equivalentTo"}
xref: GARD:0008620 {source="MONDO:equivalentTo"}
xref: NCIT:C8427 {source="MONDO:equivalentTo"}
xref: SCTID:253030004 {source="MONDO:equivalentTo"}
xref: UMLS:CN036786 {source="MONDO:equivalentTo"}
is_a: MONDO:0001608 {source="MONDO:Redundant", source="NCIT:C8427"} ! vagus nerve neoplasm
is_a: MONDO:0006239 ! head and neck paraganglioma
is_a: MONDO:0021052 {source="NCIT:C8427"} ! parasympathetic paraganglioma
property_value: exactMatch http://identifiers.org/snomedct/253030004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN036786
property_value: exactMatch NCIT:C8427

[Term]
id: MONDO:0044776
name: premature ovarian failure 10
def: "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." [OMIM:612885]
synonym: "menopause, natural, Age At, quantitative trait locus 3" RELATED [OMIM:612885]
synonym: "Pof10" RELATED [OMIM:612885]
synonym: "premature ovarian failure 10; Pof10" RELATED [OMIM:612885]
xref: OMIM:612885 {source="MONDO:equivalentTo"}
is_a: MONDO:0005387 {source="OMIM:612885"} ! primary ovarian failure
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2752067
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4225402
property_value: exactMatch http://identifiers.org/omim/612885

[Term]
id: MONDO:0044777
name: premature ovarian failure 14
synonym: "GDF9-related primary ovarian insufficiency" RELATED [GTR:AN1172965]
synonym: "POF14" RELATED [OMIM:618014]
synonym: "premature ovarian failure 14; POF14" RELATED [OMIM:618014]
xref: GTR:AN1172965 {source="UMLS:CN757793"}
xref: OMIM:618014 {source="MONDO:equivalentTo"}
xref: UMLS:CN753759 {source="MONDO:equivalentTo"}
xref: UMLS:CN757793 {source="MONDO:equivalentTo"}
is_a: MONDO:0005387 {source="OMIM:618014"} ! primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/618014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN753759
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN757793

[Term]
id: MONDO:0044778
name: nodular lymphocyte predominant Hodgkin lymphoma
def: "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" [NCIT:C7258]
synonym: "Hodgkin lymphoma nodular LP, NOS" EXACT [NCIT:C7258]
synonym: "Hodgkin lymphoma nodular lymphocyte predominant type, NOS" EXACT [NCIT:C7258]
synonym: "NLPHL" EXACT [NCIT:C7258, Orphanet:86893]
synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [NCIT:C7258]
synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7258]
synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258]
xref: ICD10:C81.0 {source="Orphanet:86893", source="ORDO:86893/ntbt"}
xref: MEDGEN:233758 {source="UMLS:C1334968"}
xref: NCIT:C7258 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NLPHL {source="MONDO:equivalentTo"}
xref: Orphanet:86893 {source="MONDO:equivalentTo"}
xref: UMLS:C1334968 {source="Orphanet:86893", source="MONDO:equivalentTo", source="ORDO:86893/e"}
is_a: MONDO:0004952 {source="NCIT:C7258", source="ONCOTREE:NLPHL", source="Orphanet:86893"} ! Hodgkins lymphoma
relationship: disease_has_feature MONDO:0043346 {source="NCIT:C7258"} ! progressive transformation of germinal centers
property_value: closeMatch http://identifiers.org/medgen/233758
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334968
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2239290
property_value: exactMatch NCIT:C7258
property_value: exactMatch Orphanet:86893

[Term]
id: MONDO:0044781
name: nephrotic syndrome of childhood - steroid sensitive
def: "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids." [NCIT:C122797]
synonym: "nephrotic syndrome of childhood - steroid sensitive" EXACT [NCIT:C122797]
synonym: "steroid-responsive nephrotic syndrome" EXACT [NCIT:C122797]
synonym: "steroid-sensitive nephrotic syndrome" EXACT [NCIT:C122797]
xref: NCIT:C122797 {source="MONDO:equivalentTo"}
xref: SCTID:236380004 {source="MONDO:equivalentTo"}
xref: UMLS:C0403396 {source="MONDO:equivalentTo"}
is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome
property_value: exactMatch http://identifiers.org/snomedct/236380004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0403396
property_value: exactMatch NCIT:C122797

[Term]
id: MONDO:0044782
name: esophageal ulcer
def: "An ulcerated lesion in the esophageal wall." [NCIT:C26950]
synonym: "esophageal ulcer" EXACT [NCIT:C26950]
synonym: "esophagus ulcer" EXACT []
synonym: "esophagus ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ulcer disease of esophagus" EXACT [MONDO:design_pattern]
xref: HP:0004791 {source="MONDO:otherHierarchy"}
xref: NCIT:C26950 {source="MONDO:equivalentTo"}
is_a: MONDO:0003749 {source="MONDO:Redundant", source="NCIT:C26950/inferred"} ! esophageal disease
is_a: MONDO:0043839 ! ulcer disease
property_value: exactMatch NCIT:C26950

[Term]
id: MONDO:0044783
name: solid papillary breast carcinoma
def: "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma." [NCIT:C6870]
synonym: "solid Papillary breast carcinoma" EXACT [NCIT:C6870]
synonym: "solid Papillary carcinoma of the breast" EXACT [NCIT:C6870]
xref: NCIT:C6870 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SPC {source="MONDO:equivalentTo"}
is_a: MONDO:0003532 {source="NCIT:C6870"} ! breast papillary carcinoma
property_value: exactMatch NCIT:C6870

[Term]
id: MONDO:0044784
name: myxoma
def: "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation." [NCIT:C6577]
synonym: "Myxoma" EXACT [NCIT:C6577]
synonym: "MYXOMA, BENIGN" EXACT [NCIT:C6577]
xref: NCIT:C6577 {source="ONCOTREE:MYXO", source="MONDO:equivalentTo"}
xref: ONCOTREE:MYXO {source="MONDO:equivalentTo"}
xref: SCTID:404082003 {source="MONDO:equivalentTo"}
is_a: MONDO:0044335 {source="NCIT:C6577/inferred"} ! benign soft tissue neoplasm
property_value: exactMatch http://identifiers.org/snomedct/404082003
property_value: exactMatch NCIT:C6577

[Term]
id: MONDO:0044785
name: desmoplastic melanoma
def: "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." [NCIT:C37257]
synonym: "desmoplastic cutaneous (skin) melanoma" EXACT [NCIT:C37257]
synonym: "desmoplastic melanoma" EXACT [NCIT:C37257]
xref: NCIT:C37257 {source="MONDO:equivalentTo", source="ONCOTREE:DESM"}
xref: ONCOTREE:DESM {source="MONDO:equivalentTo"}
is_a: MONDO:0005012 {source="NCIT:C37257"} ! cutaneous melanoma (disease)
is_a: MONDO:0006427 {source="NCIT:C37257"} ! spindle cell melanoma
is_a: MONDO:0020663 ! malignant spindle cell neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0334439
property_value: exactMatch NCIT:C37257

[Term]
id: MONDO:0044786
name: solid pseudopapillary neoplasm of the pancreas
def: "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." [NCIT:C37212]
synonym: "Frantz tumor" EXACT [NCIT:C37212]
synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [NCIT:C37212]
synonym: "solid pseudopapillary tumor of the pancreas" EXACT [NCIT:C37212]
xref: NCIT:C37212 {source="MONDO:equivalentTo", source="ONCOTREE:SPN"}
xref: ONCOTREE:SPN {source="MONDO:equivalentTo"}
is_a: MONDO:0002116 {source="NCIT:C37212"} ! malignant exocrine pancreas neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1336030
property_value: exactMatch NCIT:C37212

[Term]
id: MONDO:0044787
name: nasal cavity and paranasal sinus squamous cell carcinoma
def: "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." [NCIT:C68611]
comment: Editor note: TODO add uberon term
synonym: "nasal cavity and paranasal sinus squamous cell cancer" EXACT [NCIT:C68611]
synonym: "nasal cavity and paranasal sinus squamous cell carcinoma" EXACT [NCIT:C68611]
xref: NCIT:C68611 {source="MONDO:equivalentTo"}
xref: UMLS:C0280332 {source="MONDO:equivalentTo"}
is_a: MONDO:0010150 {source="NCIT:C68611"} ! head and neck squamous cell carcinoma
is_a: MONDO:0056819 {source="NCIT:C68611"} ! nasal cavity and paranasal sinus carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280332
property_value: exactMatch NCIT:C68611

[Term]
id: MONDO:0044788
name: perihilar intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." [NCIT:C96804]
synonym: "perihilar bile duct carcinoma" EXACT [NCIT:C96804]
synonym: "perihilar cholangiocarcinoma" RELATED [ONCOTREE:PHCH]
synonym: "perihilar ICC" EXACT [NCIT:C96804]
synonym: "perihilar intrahepatic cholangiocarcinoma" EXACT [NCIT:C96804]
xref: NCIT:C96804 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PHCH {source="MONDO:equivalentTo"}
is_a: MONDO:0003210 {source="NCIT:C96804"} ! intrahepatic cholangiocarcinoma
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3273047
property_value: exactMatch NCIT:C96804

[Term]
id: MONDO:0044789
name: digital papillary eccrine carcinoma
def: "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." [NCIT:C27534]
synonym: "digit papillary eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "digital papillary carcinoma" EXACT [NCIT:C27534]
synonym: "digital papillary carcinoma of skin" EXACT []
synonym: "digital papillary eccrine carcinoma" EXACT [NCIT:C27534]
synonym: "papillary digital eccrine carcinoma" EXACT [NCIT:C27534]
synonym: "papillary eccrine carcinoma of digit" EXACT [MONDO:design_pattern]
xref: NCIT:C27534 {source="MONDO:equivalentTo"}
is_a: MONDO:0003531 {source="MONDO:Redundant", source="NCIT:C27534"} ! papillary eccrine carcinoma
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch NCIT:C27534

[Term]
id: MONDO:0044790
name: obsolete congenital melanocytic nevus
comment: Obsoleted as was conflated with spitz nevus
is_obsolete: true
replaced_by: MONDO:0044792

[Term]
id: MONDO:0044791
name: combined hepatocellular carcinoma and cholangiocarcinoma
def: "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." [NCIT:C3828]
subset: ordo_disease
synonym: "carcinoma of liver and intrahepatic biliary tract" EXACT [NCIT:C3828]
synonym: "carcinoma of the liver and intrahepatic biliary tract" EXACT [NCIT:C3828]
synonym: "Cholangiohepatoma" EXACT [NCIT:C3828]
synonym: "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C3828]
synonym: "combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C3828]
synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [NCIT:C3828]
synonym: "Hepatocholangiocarcinoma" EXACT [NCIT:C3828]
synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C3828]
synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828]
xref: NCIT:C3828 {source="MONDO:equivalentTo"}
xref: Orphanet:529852 {source="MONDO:equivalentTo"}
xref: SCTID:274902006 {source="MONDO:equivalentTo"}
is_a: MONDO:0018536 ! adenocarcinoma of gallbladder and extrahepatic biliary tract
property_value: exactMatch http://identifiers.org/snomedct/274902006
property_value: exactMatch NCIT:C3828
property_value: exactMatch Orphanet:529852

[Term]
id: MONDO:0044792
name: large congenital melanocytic nevus
def: "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626]
comment: Editor note: check if LCMN needs separated from CMN
subset: ordo_disease
synonym: "CMNS" RELATED [OMIM:137550]
synonym: "congenital melanocytic nevi" EXACT [NCIT:C3944]
synonym: "congenital melanocytic Nevus" EXACT [NCIT:C3944]
synonym: "congenital melanocytic Nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital melanocytic Nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital nevus" RELATED [ONCOTREE:SKCN]
synonym: "congenital Nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital Nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented melanocytic Nevus" EXACT [NCIT:C3944]
synonym: "congenital pigmented nevus" EXACT [Orphanet:626]
synonym: "congenital pigmented Nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented Nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented skin Nevus" EXACT [NCIT:C3944]
synonym: "congenital skin Nevus" EXACT [NCIT:C3944]
synonym: "Giant congenital melanocytic nevus" EXACT [Orphanet:626]
synonym: "Giant Congenital pigmented Nevus" RELATED [OMIM:137550]
synonym: "Giant pigmented hairy Nevus" RELATED [OMIM:137550]
synonym: "Giant pigmented hairy nevus" EXACT [Orphanet:626]
synonym: "GMN" EXACT [Orphanet:626]
synonym: "LCMN" EXACT [Orphanet:626]
synonym: "melanocytic NEVUS syndrome, CONGENITAL; CMNS" RELATED [OMIM:137550]
synonym: "Nevus spilus" RELATED [OMIM:137550]
synonym: "pigmented moles" RELATED [OMIM:137550]
synonym: "spitz Nevus" RELATED [OMIM:137550]
xref: ICD10:Q82.5 {source="Orphanet:626", source="ORDO:626/attributed", source="ORDO:626/ntbt"}
xref: MedDRA:10072036 {source="ORDO:626/e", source="Orphanet:626"}
xref: NCIT:C3944 {source="MONDO:equivalentTo"}
xref: OMIM:137550 {source="MONDO:equivalentTo", source="Orphanet:626"}
xref: ONCOTREE:SKCN {source="MONDO:equivalentTo"}
xref: Orphanet:626 {source="OMIM:137550", source="MONDO:equivalentTo"}
xref: SCTID:398696001 {source="MONDO:equivalentTo"}
xref: UMLS:C1318558 {source="ORDO:626/e", source="MONDO:equivalentTo", source="Orphanet:626"}
xref: UMLS:C1842036 {source="ORDO:626/e", source="OMIM:137550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:626"}
is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3944", source="Orphanet:626", source="indirect", source="linkedlifedata"} ! melanocytic nevus
is_a: MONDO:0015950 {source="Orphanet:626", source="indirect"} ! inherited skin tumor
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206739
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0346099
property_value: exactMatch http://identifiers.org/meddra/10072036
property_value: exactMatch http://identifiers.org/omim/137550
property_value: exactMatch http://identifiers.org/snomedct/398696001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1318558
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1842036
property_value: exactMatch NCIT:C3944
property_value: exactMatch Orphanet:626

[Term]
id: MONDO:0044793
name: spitz nevus
def: "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." [NCIT:C27007]
subset: gard_rare
synonym: "benign juvenile melanoma" EXACT [NCIT:C27007]
synonym: "juvenile nevus" EXACT [NCIT:C27007]
synonym: "spindle and/ or epithelioid cell Nevus" EXACT [NCIT:C27007]
synonym: "spitz naevus" RELATED [GARD:0010412]
synonym: "spitz nevi" RELATED [GARD:0010412]
synonym: "spitz nevus" EXACT [NCIT:C27007]
xref: GARD:0010412 {source="MONDO:equivalentTo"}
xref: ICDO:8770/0 {source="NCIT:C27007"}
xref: NCIT:C27007 {source="MONDO:equivalentTo"}
is_a: MONDO:0044794 {source="NCIT:C27007"} ! benign melanocytic skin nevus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0206739
property_value: exactMatch NCIT:C27007

[Term]
id: MONDO:0044794
name: benign melanocytic skin nevus
def: "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." [NCIT:C7571]
comment: Editor note: TODO logical def
synonym: "benign melanocytic nevus" EXACT [NCIT:C7571]
synonym: "benign melanocytic nevus of skin" EXACT [NCIT:C7571]
synonym: "benign melanocytic nevus of the skin" EXACT [NCIT:C7571]
synonym: "benign melanocytic skin nevus" EXACT [NCIT:C7571]
synonym: "benign mole" EXACT [NCIT:C7571]
synonym: "benign nevus of skin" EXACT [NCIT:C7571]
synonym: "benign nevus of the skin" EXACT [NCIT:C7571]
synonym: "benign skin nevus" EXACT [NCIT:C7571]
xref: NCIT:C7571 {source="MONDO:equivalentTo"}
xref: UMLS:C1456781 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="NCIT:C7571"} ! melanocytic nevus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1456781
property_value: exactMatch NCIT:C7571

[Term]
id: MONDO:0044795
name: epithelioid cell nevus
def: "A nevus characterized by the presence of large epithelioid melanocytes." [NCIT:C66757]
synonym: "epithelioid cell nevus" EXACT [NCIT:C66757]
xref: NCIT:C66757 {source="MONDO:equivalentTo"}
xref: UMLS:C0259820 {source="MONDO:equivalentTo"}
is_a: MONDO:0044793 {source="NCIT:C66757"} ! spitz nevus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0259820
property_value: exactMatch NCIT:C66757

[Term]
id: MONDO:0044796
name: spindle cell nevus
def: "A nevus characterized by the presence of spindle-shaped melanocytes." [NCIT:C66758]
synonym: "spindle cell nevus" EXACT [NCIT:C66758]
xref: NCIT:C66758 {source="MONDO:equivalentTo"}
xref: SCTID:253038006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020664 ! spindle cell neoplasm
is_a: MONDO:0044793 {source="NCIT:C66758"} ! spitz nevus
property_value: exactMatch http://identifiers.org/snomedct/253038006
property_value: exactMatch NCIT:C66758

[Term]
id: MONDO:0044797
name: desmoplastic nevus
def: "A benign melanocytic nevus characterized by the presence of desmoplastic stroma." [NCIT:C4497]
synonym: "Desmoplastic Nevus" EXACT [NCIT:C4497]
xref: NCIT:C4497 {source="MONDO:equivalentTo"}
xref: UMLS:C0346098 {source="MONDO:equivalentTo"}
is_a: MONDO:0044794 {source="NCIT:C4497"} ! benign melanocytic skin nevus
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0346098
property_value: exactMatch NCIT:C4497

[Term]
id: MONDO:0044800
name: desmoplastic spitz nevus
def: "A Spitz nevus associated with fibrous stroma formation." [NCIT:C82864]
synonym: "Desmoplastic spitz Nevus" EXACT [NCIT:C82864]
xref: NCIT:C82864 {source="MONDO:equivalentTo"}
xref: SCTID:400022009 {source="MONDO:equivalentTo"}
xref: UMLS:C1275419 {source="MONDO:equivalentTo"}
is_a: MONDO:0044793 {source="MONDO:Redundant", source="NCIT:C82864"} ! spitz nevus
is_a: MONDO:0044797 {source="MONDO:Redundant", source="NCIT:C82864"} ! desmoplastic nevus
intersection_of: MONDO:0044793 {source="NCIT:C82864"} ! spitz nevus
intersection_of: MONDO:0044797 {source="NCIT:C82864"} ! desmoplastic nevus
property_value: exactMatch http://identifiers.org/snomedct/400022009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1275419
property_value: exactMatch NCIT:C82864

[Term]
id: MONDO:0044807
name: inherited dystonia
def: "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:391799"}
synonym: "familial dystonia" EXACT [NCIT:C35527]
synonym: "hereditary dystonic disorder" EXACT [MONDO:patterns/hereditary]
synonym: "rare genetic dystonia" EXACT [MONDO:0018331]
synonym: "rare genetic dystonic disorder" EXACT [Orphanet:391799]
xref: NCIT:C35527 {source="MONDO:equivalentTo"}
xref: Orphanet:391799 {source="MONDO:equivalentTo"}
xref: UMLS:CN227322 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"}
is_a: MONDO:0003441 {source="NCIT:C35527", source="indirect"} ! dystonic disorder
is_a: MONDO:0017663 ! inherited tremor disorder
intersection_of: MONDO:0003441 ! dystonic disorder
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN227322
property_value: exactMatch NCIT:C35527
property_value: exactMatch Orphanet:391799

[Term]
id: MONDO:0044808
name: early onset primary dystonia
def: "A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions." [NCIT:C116718]
synonym: "early onset primary dystonia" EXACT [NCIT:C116718]
synonym: "early onset torsion dystonia" EXACT [NCIT:C116718]
synonym: "Oppenheim's dystonia" EXACT [NCIT:C116718]
xref: NCIT:C116718 {source="MONDO:equivalentTo"}
is_a: MONDO:0044807 {source="NCIT:C116718"} ! inherited dystonia
property_value: exactMatch NCIT:C116718

[Term]
id: MONDO:0044811
name: idiopathic torsion dystonia
def: "Torsion dystonia for which no underlying cause has been identified." [NCIT:C34564]
synonym: "dystonia deformans progressiva" RELATED []
synonym: "dystonia musculorum deformans" RELATED []
synonym: "Idiopathic torsion dystonia" EXACT [NCIT:C34564]
synonym: "idiopathic torsion dystonia" EXACT []
synonym: "primary torsion dystonia" EXACT []
synonym: "Schwalbe disease" RELATED []
synonym: "Ziehen-oppenheim disease" RELATED []
xref: ICD9:333.6 {source="linkedlifedata"}
xref: NCIT:C34564 {source="MONDO:equivalentTo"}
xref: SCTID:22451001 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="NCIT:C34564", source="linkedlifedata"} ! dystonic disorder
property_value: exactMatch http://identifiers.org/snomedct/22451001
property_value: exactMatch NCIT:C34564

[Term]
id: MONDO:0044816
name: familial idiopathic torsion dystonia
def: "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "familial Idiopathic dystonia" EXACT [NCIT:C35437]
synonym: "genetic torsion dystonia" RELATED []
synonym: "hereditary idiopathic torsion dystonia" EXACT [MONDO:patterns/hereditary]
synonym: "idiopathic familial dystonia" EXACT []
xref: NCIT:C35437 {source="MONDO:equivalentTo"}
xref: SCTID:230318005 {source="MONDO:equivalentTo"}
is_a: MONDO:0044807 {source="MONDO:Redundant", source="NCIT:C35437"} ! inherited dystonia
is_a: MONDO:0044811 {source="MONDO:Redundant", source="NCIT:C35437", source="linkedlifedata"} ! idiopathic torsion dystonia
intersection_of: MONDO:0044811 ! idiopathic torsion dystonia
intersection_of: has_modifier MONDO:0021152 ! inherited
property_value: exactMatch http://identifiers.org/snomedct/230318005
property_value: exactMatch NCIT:C35437

[Term]
id: MONDO:0044817
name: acquired idiopathic torsion dystonia
def: "An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired idiopathic torsion dystonia" EXACT [MONDO:patterns/acquired]
synonym: "idiopathic non-familial dystonia" EXACT []
synonym: "non-Familial Idiopathic dystonia" EXACT [NCIT:C35438]
xref: NCIT:C35438 {source="MONDO:equivalentTo"}
xref: SCTID:230321007 {source="MONDO:equivalentTo"}
is_a: MONDO:0044811 {source="MONDO:Redundant", source="NCIT:C35438", source="linkedlifedata"} ! idiopathic torsion dystonia
intersection_of: MONDO:0044811 ! idiopathic torsion dystonia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/230321007
property_value: exactMatch NCIT:C35438

[Term]
id: MONDO:0044843
name: torsion dystonia
synonym: "torsion dystonia" EXACT []
xref: SCTID:431034009 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="linkedlifedata"} ! dystonic disorder
property_value: exactMatch http://identifiers.org/snomedct/431034009

[Term]
id: MONDO:0044870
name: acquired torsion dystonia
def: "An instance of torsion dystonia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired torsion dystonia" EXACT [MONDO:patterns/acquired]
xref: SCTID:433493000 {source="MONDO:equivalentTo"}
xref: UMLS:C1719382 {source="MONDO:equivalentTo"}
is_a: MONDO:0044843 ! torsion dystonia
intersection_of: MONDO:0044843 ! torsion dystonia
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/433493000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1719382

[Term]
id: MONDO:0044871
name: dystonia, focal, task-specific
synonym: "dystonia, focal, task-specific" EXACT [MONDO:Lexical, OMIM:611284]
synonym: "dystonia, focal, task-specific; FTSD" EXACT [OMIM:611284]
synonym: "focal hand dystonia" RELATED [https://en.wikipedia.org/wiki/Dystonia#Generalized_dystonias, MESH:C566973]
synonym: "focal task-specific dystonia" RELATED [MESH:C566973]
synonym: "FTSD" EXACT [MESH:C566973, MONDO:Lexical, OMIM:611284]
synonym: "musician's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "musician's dystonia" RELATED [MESH:C566973, OMIM:611284]
synonym: "occupational cramp" RELATED [MESH:C566973]
synonym: "occupational dystonia" RELATED [MESH:C566973]
synonym: "task-specific dystonia" RELATED [MESH:C566973]
synonym: "task-specific focal dystonia" RELATED [MESH:C566973]
xref: MESH:C566973 {source="MONDO:equivalentTo"}
xref: OMIM:611284 {source="MONDO:equivalentTo"}
xref: SCTID:230330004 {source="MONDO:equivalentTo"}
is_a: MONDO:0000477 {source="OMIM:611284", source="https://en.wikipedia.org/wiki/Dystonia", source="https://orcid.org/0000-0001-5208-3432"} ! focal dystonia
is_a: MONDO:0044807 ! inherited dystonia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1969807
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2749929
property_value: exactMatch http://identifiers.org/mesh/C566973
property_value: exactMatch http://identifiers.org/omim/611284
property_value: exactMatch http://identifiers.org/snomedct/230330004

[Term]
id: MONDO:0044872
name: dysautonomia
def: "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis." [NCIT:C53439]
synonym: "dysautonomia" EXACT [NCIT:C53439]
xref: NCIT:C53439 {source="MONDO:equivalentTo"}
is_a: MONDO:0001292 ! autonomic nervous system disease
property_value: exactMatch NCIT:C53439

[Term]
id: MONDO:0044873
name: childhood myelodysplastic syndrome
def: "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults." [NCIT:C68744]
synonym: "childhood MDS" EXACT [NCIT:C68744]
synonym: "childhood myelodysplastic syndrome" EXACT [NCIT:C68744]
synonym: "myelodysplastic syndrome" EXACT [NCIT:C68744]
xref: NCIT:C68744 {source="MONDO:equivalentTo"}
is_a: MONDO:0018881 {source="NCIT:C68744"} ! myelodysplastic syndrome
property_value: exactMatch NCIT:C68744

[Term]
id: MONDO:0044874
name: refractory cytopenia of childhood
def: "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood." [NCIT:C82596]
synonym: "RCC" EXACT [NCIT:C82596]
synonym: "refractory cytopenia of childhood" EXACT [NCIT:C82596]
xref: NCIT:C82596 {source="MONDO:equivalentTo"}
xref: ONCOTREE:RCYC {source="MONDO:equivalentTo"}
is_a: MONDO:0004111 ! refractory hematologic cancer
is_a: MONDO:0044873 {source="NCIT:C82596"} ! childhood myelodysplastic syndrome
property_value: exactMatch NCIT:C82596

[Term]
id: MONDO:0044875
name: coronary microvascular disease
def: "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." [NCIT:C84478]
synonym: "CMD" EXACT [NCIT:C84478]
synonym: "coronary microvascular disease" EXACT [NCIT:C84478]
synonym: "heart disease of microvascular endothelium" EXACT []
synonym: "microvascular endothelium heart disease" EXACT [MONDO:patterns/location]
xref: NCIT:C84478 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
property_value: exactMatch NCIT:C84478

[Term]
id: MONDO:0044876
name: drug hypersensitivity syndrome
def: "A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs." [NCIT:C112208]
synonym: "DHS" EXACT [NCIT:C112208]
synonym: "dress" EXACT [NCIT:C112208]
synonym: "Drug hypersensitivity syndrome" EXACT [NCIT:C112208]
synonym: "Drug reaction with eosinophilia and Systemic symptoms" EXACT [NCIT:C112208]
xref: NCIT:C112208 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C112208"} ! syndromic disease
is_a: MONDO:0029001 ! chemically-induced disorder
property_value: exactMatch NCIT:C112208

[Term]
id: MONDO:0044877
name: paraneoplastic cerebellar degeneration
def: "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." [NCIT:C4685]
synonym: "paraneoplastic cerebellar Degeneration" EXACT [NCIT:C4685]
xref: NCIT:C4685 {source="MONDO:equivalentTo"}
is_a: MONDO:0018215 ! paraneoplastic neurologic syndrome
is_a: MONDO:0022687 {source="MONDO:Redundant", source="NCIT:C4685"} ! cerebellar degeneration
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: MONDO:0022687 ! cerebellar degeneration
property_value: exactMatch NCIT:C4685

[Term]
id: MONDO:0044878
name: adult germ cell tumor
def: "A germ cell tumor that occurs during adulthood." [NCIT:C114777]
synonym: "Adult germ cell tumor" EXACT [NCIT:C114777]
synonym: "germ cell tumor" EXACT [NCIT:C114777]
synonym: "germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: NCIT:C114777 {source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="MONDO:Redundant", source="NCIT:C114777"} ! germ cell tumor
property_value: exactMatch NCIT:C114777

[Term]
id: MONDO:0044879
name: pancreatic mucinous-cystic neoplasm
def: "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation." [NCIT:C41247]
synonym: "mucinous cystic neoplasm" RELATED [ONCOTREE:MCN]
synonym: "Pancreatic mucinous cystic neoplasm" EXACT [NCIT:C41247]
synonym: "Pancreatic mucinous-cystic neoplasm" EXACT [NCIT:C41247]
xref: NCIT:C41247 {source="MONDO:equivalentTo", source="ONCOTREE:MCN"}
xref: ONCOTREE:MCN {source="MONDO:equivalentTo"}
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C41247"} ! mucinous neoplasm
is_a: MONDO:0044880 {source="MONDO:Redundant", source="ONCOTREE:MCN"} ! cystic tumor of the pancreas
intersection_of: MONDO:0024338 ! mucinous neoplasm
intersection_of: MONDO:0044880 ! cystic tumor of the pancreas
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518872
property_value: exactMatch NCIT:C41247

[Term]
id: MONDO:0044880
name: cystic tumor of the pancreas
xref: ONCOTREE:PACT {source="MONDO:equivalentTo"}
is_a: MONDO:0021076 ! pancreatic exocrine neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1518872

[Term]
id: MONDO:0044881
name: hematopoietic and lymphoid cell neoplasm
def: "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." [NCIT:C27134]
synonym: "hematologic cancer" EXACT [NCIT:C27134]
synonym: "hematologic malignancy" EXACT [NCIT:C27134]
synonym: "hematologic neoplasm" EXACT [NCIT:C27134]
synonym: "hematological neoplasm" EXACT [NCIT:C27134]
synonym: "hematological tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic and lymphoid cell neoplasm" EXACT [NCIT:C27134]
synonym: "hematopoietic and lymphoid neoplasms" EXACT [NCIT:C27134]
synonym: "hematopoietic cancer" EXACT [NCIT:C27134]
synonym: "hematopoietic cell tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic malignancy, NOS" EXACT [NCIT:C27134]
synonym: "hematopoietic neoplasm" EXACT [NCIT:C27134]
synonym: "hematopoietic neoplasms including Lymphomas" EXACT [NCIT:C27134]
synonym: "hematopoietic tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic, Including myeloma" EXACT [NCIT:C27134]
synonym: "HEMOLYMPHORETICULAR tumor, malignant" EXACT [NCIT:C27134]
synonym: "malignant hematologic neoplasm" EXACT [NCIT:C27134]
synonym: "malignant hematopoietic neoplasm" EXACT [NCIT:C27134]
xref: NCIT:C27134 {source="MONDO:equivalentTo"}
is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C27134"} ! hematopoietic and lymphoid system neoplasm
property_value: exactMatch NCIT:C27134

[Term]
id: MONDO:0044884
name: tonsillar lymphoma
def: "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas." [NCIT:C5918]
synonym: "lymphoma of the tonsil" EXACT [NCIT:C5918]
synonym: "lymphoma of tonsil" EXACT [NCIT:C5918]
synonym: "Primary tonsillar lymphoma" EXACT [NCIT:C5918]
synonym: "tonsil lymphoma" EXACT [MONDO:patterns/location, NCIT:C5918]
synonym: "tonsillar lymphoma" EXACT [NCIT:C5918]
xref: NCIT:C5918 {source="MONDO:equivalentTo"}
xref: UMLS:C1336765 {source="MONDO:equivalentTo"}
is_a: MONDO:0006998 {source="MONDO:Redundant", source="NCIT:C5918"} ! tonsil cancer
is_a: MONDO:0007650 ! MALT lymphoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336765
property_value: exactMatch NCIT:C5918

[Term]
id: MONDO:0044885
name: tonsillar lipoma
def: "A benign adipose tissue neoplasm of the tonsils." [NCIT:C5989]
synonym: "lipoma of the tonsil" EXACT [NCIT:C5989]
synonym: "lipoma of tonsil" EXACT [NCIT:C5989]
synonym: "tonsil lipoma" EXACT [MONDO:patterns/location, NCIT:C5989]
synonym: "tonsillar lipoma" EXACT [NCIT:C5989]
xref: NCIT:C5989 {source="MONDO:equivalentTo"}
xref: UMLS:C1336764 {source="MONDO:equivalentTo"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C5989"} ! lipoma
is_a: MONDO:0021513 {source="MONDO:Redundant", source="NCIT:C5989"} ! benign neoplasm of tonsil
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1336764
property_value: exactMatch NCIT:C5989

[Term]
id: MONDO:0044887
name: central nervous system non-hodgkin lymphoma
def: "A non-Hodgkin lymphoma that arises from the central nervous system." [NCIT:C114779]
synonym: "Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779]
synonym: "central nervous system non-Hodgkin lymphoma" EXACT [MONDO:patterns/location]
synonym: "non-Hodgkin lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "Primary Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779]
xref: NCIT:C114779 {source="MONDO:equivalentTo"}
xref: SCTID:448254007 {source="MONDO:equivalentTo"}
xref: UMLS:C2213246 {source="MONDO:equivalentTo"}
is_a: MONDO:0002571 {source="MONDO:Redundant", source="NCIT:C114779"} ! primary central nervous system lymphoma
is_a: MONDO:0015759 ! B-cell non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/snomedct/448254007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2213246
property_value: exactMatch NCIT:C114779

[Term]
id: MONDO:0044889
name: high grade B-cell lymphoma
def: "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." [NCIT:C138211]
synonym: "HGBL" EXACT [NCIT:C138211]
synonym: "high grade B-cell lymphoma" EXACT [NCIT:C138211]
synonym: "high-grade B-cell lymphoma" EXACT [NCIT:C138211]
xref: NCIT:C138211 {source="MONDO:equivalentTo"}
xref: SCTID:277617004 {source="MONDO:equivalentTo"}
xref: UMLS:C0456863 {source="MONDO:equivalentTo"}
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C138211"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 {source="NCIT:C138211"} ! diffuse large B-cell lymphoma
intersection_of: has_modifier MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system
relationship: has_modifier MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system
property_value: exactMatch http://identifiers.org/snomedct/277617004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0456863
property_value: exactMatch NCIT:C138211

[Term]
id: MONDO:0044903
name: myelofibrosis
def: "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" [NCIT:C3248]
synonym: "myelofibrosis" EXACT [NCIT:C3248]
xref: NCIT:C3248 {source="MONDO:equivalentTo"}
is_a: MONDO:0003225 {source="NCIT:C3248"} ! bone marrow disease
property_value: exactMatch NCIT:C3248

[Term]
id: MONDO:0044906
name: bladder urothelial papilloma
def: "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C39858]
synonym: "bladder transitional cell papilloma" EXACT [NCIT:C39858]
synonym: "bladder urothelial papilloma" EXACT [NCIT:C39858]
synonym: "urinary bladder transitional cell papilloma" EXACT [NCIT:C39858]
synonym: "urinary bladder urothelial papilloma" EXACT [NCIT:C39858]
xref: NCIT:C39858 {source="MONDO:equivalentTo"}
is_a: MONDO:0000384 {source="MONDO:Redundant", source="NCIT:C39858"} ! bladder benign neoplasm
is_a: MONDO:0003822 {source="NCIT:C39858"} ! non-invasive bladder papillary urothelial neoplasm
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C39858"} ! urothelial papilloma
property_value: exactMatch NCIT:C39858

[Term]
id: MONDO:0044907
name: metastatic squamous cell carcinoma
def: "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site." [NCIT:C4104]
synonym: "Metastatic squamous cell carcinoma" EXACT [NCIT:C4104]
xref: NCIT:C4104 {source="MONDO:equivalentTo"}
xref: SCTID:403906006 {source="MONDO:equivalentTo"}
xref: UMLS:C0334246 {source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C4104", source="linkedlifedata"} ! squamous cell carcinoma
is_a: MONDO:0024879 {source="NCIT:C4104"} ! metastatic carcinoma
property_value: exactMatch http://identifiers.org/snomedct/403906006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0334246
property_value: exactMatch NCIT:C4104

[Term]
id: MONDO:0044912
name: metastatic malignant neoplasm in the spinal cord
def: "A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma." [NCIT:C4585]
synonym: "metastasis to spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic malignant neoplasm in the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic malignant neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic tumor to the spinal cord" EXACT [NCIT:C4585]
synonym: "Secondary malignant neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Secondary malignant tumor to the spinal cord" EXACT [NCIT:C4585]
xref: NCIT:C4585 {source="MONDO:equivalentTo"}
xref: SCTID:94600009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347016 {source="MONDO:equivalentTo"}
is_a: MONDO:0003544 {source="MONDO:Redundant", source="NCIT:C4585"} ! spinal cord cancer
is_a: MONDO:0024880 ! metastatic malignant neoplasm
property_value: exactMatch http://identifiers.org/snomedct/94600009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347016
property_value: exactMatch NCIT:C4585

[Term]
id: MONDO:0044913
name: metastatic malignant neoplasm in the eye
def: "A malignant neoplasm that has spread to the eye from another anatomic site." [NCIT:C4586]
synonym: "eye metastasis" EXACT [NCIT:C4586]
synonym: "Metastases to eye" EXACT [NCIT:C4586]
synonym: "Metastases to the eye" EXACT [NCIT:C4586]
synonym: "metastasis to eye" EXACT [NCIT:C4586]
synonym: "metastasis to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic malignant neoplasm in the eye" EXACT [NCIT:C4586]
synonym: "Metastatic malignant neoplasm to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic neoplasm to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic tumor to the eye" EXACT [NCIT:C4586]
xref: NCIT:C4586 {source="MONDO:equivalentTo"}
xref: SCTID:94292003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347019 {source="MONDO:equivalentTo"}
is_a: MONDO:0002236 {source="MONDO:Redundant", source="NCIT:C4586"} ! ocular cancer
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4586"} ! metastatic malignant neoplasm
property_value: exactMatch http://identifiers.org/snomedct/94292003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0347019
property_value: exactMatch NCIT:C4586

[Term]
id: MONDO:0044915
name: salivary duct carcinoma
def: "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." [NCIT:C5904]
synonym: "carcinoma of duct of salivary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of salivary duct" EXACT [NCIT:C5904]
synonym: "carcinoma of the salivary duct" EXACT [NCIT:C5904]
synonym: "duct of salivary gland carcinoma" EXACT []
synonym: "high grade salivary duct carcinoma" EXACT [NCIT:C5904]
synonym: "salivary duct carcinoma" EXACT [NCIT:C5904]
xref: NCIT:C5904 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SDCA {source="MONDO:equivalentTo"}
xref: UMLS:C1301194 {source="MONDO:equivalentTo"}
is_a: MONDO:0000521 ! salivary gland carcinoma
is_a: MONDO:0006176 {source="NCIT:C5904"} ! cribriform carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1301194
property_value: exactMatch NCIT:C5904

[Term]
id: MONDO:0044916
name: extrarenal rhabdoid tumor
def: "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." [NCIT:C6586]
synonym: "extrarenal rhabdoid tumor" EXACT [NCIT:C6586]
synonym: "malignant extrarenal rhabdoid neoplasm" EXACT [NCIT:C6586]
synonym: "rhabdoid tumor of soft tissue" EXACT [NCIT:C6586]
xref: NCIT:C6586 {source="MONDO:equivalentTo"}
xref: SCTID:404089007 {source="MONDO:equivalentTo"}
xref: UMLS:C1304517 {source="MONDO:equivalentTo"}
is_a: MONDO:0002728 {source="NCIT:C6586"} ! rhabdoid tumor
is_a: MONDO:0006517 {source="NCIT:C6586"} ! childhood malignant neoplasm
property_value: exactMatch http://identifiers.org/snomedct/404089007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1304517
property_value: exactMatch NCIT:C6586

[Term]
id: MONDO:0044917
name: T-lymphoblastic lymphoma
def: "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" [NCIT:C6919]
synonym: "Precur. T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-cell Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T-Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
xref: EFO:1001830 {source="MONDO:equivalentTo"}
xref: NCIT:C6919 {source="MONDO:equivalentTo"}
xref: SCTID:421246008 {source="MONDO:equivalentTo"}
is_a: MONDO:0000873 {source="NCIT:C6919"} ! lymphoblastic lymphoma
is_a: MONDO:0003537 {source="NCIT:C6919"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0015760 {source="NCIT:C6919", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma
property_value: exactMatch http://identifiers.org/snomedct/421246008
property_value: exactMatch NCIT:C6919

[Term]
id: MONDO:0044919
name: malignant renal pelvis neoplasm
def: "A primary or metastatic malignant neoplasm that affects the renal pelvis." [NCIT:C7525]
synonym: "cancer of renal pelvis" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of renal pelvis" EXACT [MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant neoplasm of the renal pelvis" EXACT [NCIT:C7525]
synonym: "malignant renal pelvis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant renal pelvis tumor" EXACT [NCIT:C7525]
synonym: "malignant tumor of renal pelvis" EXACT [NCIT:C7525]
synonym: "malignant tumor of the renal pelvis" EXACT [NCIT:C7525]
synonym: "renal pelvis cancer" EXACT []
xref: NCIT:C7525 {source="MONDO:equivalentTo"}
is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C7525"} ! kidney cancer
is_a: MONDO:0003719 {source="MONDO:Redundant", source="NCIT:C7525"} ! renal pelvis neoplasm
property_value: exactMatch NCIT:C7525

[Term]
id: MONDO:0044921
name: atypical lymphoproliferative disorder
synonym: "atypical lymphoid hyperplasia" EXACT [NCIT:C7764]
synonym: "atypical lymphoproliferative disorder" EXACT [NCIT:C7764]
xref: NCIT:C7764 {source="MONDO:equivalentTo"}
xref: SCTID:20991001 {source="MONDO:equivalentTo"}
xref: UMLS:C0272217 {source="MONDO:equivalentTo"}
is_a: MONDO:0016537 {source="NCIT:C7764"} ! lymphoproliferative syndrome
is_a: MONDO:0060782 {source="NCIT:C7764"} ! premalignant hematological system disease
property_value: exactMatch http://identifiers.org/snomedct/20991001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0272217
property_value: exactMatch NCIT:C7764

[Term]
id: MONDO:0044923
name: acute myeloid leukemia with mutated NPM1
def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." [NCIT:C82431]
synonym: "acute myeloid leukemia with cytoplasmic nucleophosmin" EXACT [NCIT:C82431]
synonym: "acute myeloid leukemia with mutated NPM1" EXACT [NCIT:C82431]
synonym: "AML with mutated NPM1" EXACT [NCIT:C82431]
synonym: "NPMc+ AML" EXACT [NCIT:C82431]
xref: NCIT:C82431 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AMLNPM1 {source="MONDO:equivalentTo"}
xref: UMLS:C2826177 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82431/inferred", source="ONCOTREE:AMLNPM1/inferred"} ! acute myeloid leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826177
property_value: exactMatch NCIT:C82431

[Term]
id: MONDO:0044924
name: acute myeloid leukemia with mutated CEBPA
def: "An acute myeloid leukemia with mutations of the CEBPA gene." [NCIT:C82433]
synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [NCIT:C82433]
synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C82433]
synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433]
synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433]
xref: NCIT:C82433 {source="MONDO:equivalentTo"}
xref: UMLS:C2826178 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2826178
property_value: exactMatch NCIT:C82433

[Term]
id: MONDO:0044925
name: oral cavity carcinoma
def: "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." [NCIT:C8990]
synonym: "carcinoma of mouth" EXACT [NCIT:C8990]
synonym: "carcinoma of oral cavity" EXACT [MONDO:patterns/carcinoma, NCIT:C8990]
synonym: "carcinoma of the oral cavity" EXACT [NCIT:C8990]
synonym: "mouth carcinoma" EXACT [NCIT:C8990]
synonym: "oral cavity cancer" EXACT [NCIT:C8990]
synonym: "oral cavity carcinoma" EXACT [NCIT:C8990]
xref: NCIT:C8990 {source="MONDO:equivalentTo"}
xref: UMLS:C0151546 {source="MONDO:equivalentTo"}
is_a: MONDO:0005515 {source="MONDO:Redundant", source="NCIT:C8990"} ! oral cavity cancer
is_a: MONDO:0006181 ! digestive system carcinoma
is_a: MONDO:0023644 {source="NCIT:C8990"} ! lip and oral cavity carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0151546
property_value: exactMatch NCIT:C8990

[Term]
id: MONDO:0044926
name: oropharyngeal carcinoma
def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." [NCIT:C9105]
synonym: "cancer of oropharynx" EXACT [NCIT:C9105]
synonym: "cancer of the oropharynx" EXACT [NCIT:C9105]
synonym: "carcinoma of oropharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9105]
synonym: "carcinoma of the oropharynx" EXACT [NCIT:C9105]
synonym: "oropharyngeal cancer" EXACT [NCIT:C9105]
synonym: "oropharyngeal carcinoma" EXACT [NCIT:C9105]
synonym: "oropharyngeal throat cancer" EXACT [NCIT:C9105]
synonym: "oropharynx carcinoma" EXACT [NCIT:C9105]
xref: NCIT:C9105 {source="MONDO:equivalentTo"}
is_a: MONDO:0002038 ! head and neck carcinoma
is_a: MONDO:0004608 {source="MONDO:Redundant", source="NCIT:C9105"} ! oropharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9105"} ! carcinoma of pharynx
property_value: exactMatch NCIT:C9105

[Term]
id: MONDO:0044937
name: rectal carcinoma
def: "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C9382]
synonym: "cancer of rectum" EXACT [NCIT:C9382]
synonym: "cancer of the rectum" EXACT [NCIT:C9382]
synonym: "carcinoma of rectum" EXACT [MONDO:patterns/carcinoma, NCIT:C9382]
synonym: "carcinoma of the rectum" EXACT [NCIT:C9382]
synonym: "rectal cancer" EXACT [NCIT:C9382]
synonym: "rectal carcinoma" EXACT [NCIT:C9382]
synonym: "rectum carcinoma" EXACT []
xref: NCIT:C9382 {source="MONDO:equivalentTo"}
is_a: MONDO:0006519 {source="MONDO:Redundant", source="NCIT:C9382"} ! rectal cancer
is_a: MONDO:0024331 {source="MONDO:Redundant", source="NCIT:C9382"} ! colorectal carcinoma
is_a: MONDO:0024476 ! epithelial neoplasm of rectum
property_value: exactMatch NCIT:C9382

[Term]
id: MONDO:0044956
name: paranasal sinus mucoepidermoid carcinoma
def: "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type." [NCIT:C6018]
synonym: "accessory sinus mucoepidermoid carcinoma" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of paranasal sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of the accessory sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C6018]
synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [NCIT:C6018]
xref: NCIT:C6018 {source="MONDO:equivalentTo"}
is_a: MONDO:0000380 {source="MONDO:Redundant", source="NCIT:C6018"} ! paranasal sinus carcinoma
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C6018"} ! mucoepidermoid carcinoma
property_value: exactMatch NCIT:C6018

[Term]
id: MONDO:0044964
name: oral cavity mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination." [NCIT:C8177]
synonym: "mucoepidermoid carcinoma of oral cavity" EXACT [NCIT:C8177]
synonym: "mucoepidermoid carcinoma of the oral cavity" EXACT [NCIT:C8177]
synonym: "oral cavity mucoepidermoid cancer" EXACT [NCIT:C8177]
synonym: "oral cavity mucoepidermoid carcinoma" EXACT [NCIT:C8177]
xref: NCIT:C8177 {source="MONDO:equivalentTo"}
xref: UMLS:C0280309 {source="MONDO:equivalentTo"}
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C8177"} ! mucoepidermoid carcinoma
is_a: MONDO:0044925 {source="MONDO:Redundant", source="NCIT:C8177"} ! oral cavity carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280309
property_value: exactMatch NCIT:C8177

[Term]
id: MONDO:0044965
name: abdominal and pelvic region disorder
def: "A disease or disorder that involves the abdominal segment of trunk." [MONDO:design_pattern]
synonym: "abdominal segment of trunk disease" EXACT [MONDO:design_pattern]
synonym: "abdominal segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of abdominal segment of trunk" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of abdominal segment of trunk" EXACT []
synonym: "disorder of abdominal segment of trunk" EXACT [MONDO:patterns/location_top]
synonym: "disorder of abdominal segment of trunk" RELATED [MONDO:patterns/location_top]
xref: SCTID:609618002 {source="MONDO:equivalentTo"}
xref: UMLS:C3661988 {source="MONDO:equivalentTo"}
is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region
property_value: exactMatch http://identifiers.org/snomedct/609618002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3661988

[Term]
id: MONDO:0044967
name: limb disorder
def: "A disease or disorder that involves the limb." [MONDO:design_pattern]
synonym: "disease of limb" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of limb" EXACT []
synonym: "disorder of extremity" EXACT []
synonym: "disorder of limb" EXACT [MONDO:patterns/location_top]
synonym: "disorder of limb" RELATED [MONDO:patterns/location_top]
synonym: "limb disease" EXACT [MONDO:design_pattern]
synonym: "limb disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD9:V49.1
xref: SCTID:128605003 {source="MONDO:equivalentTo"}
xref: UMLS:C1290877 {source="MONDO:equivalentTo"}
is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass", source="linkedlifedata"} ! disorder by anatomical region
property_value: exactMatch http://identifiers.org/snomedct/128605003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290877

[Term]
id: MONDO:0044969
name: disease of membrane bound organelle
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected

[Term]
id: MONDO:0044970
name: mitochondrial disease
is_a: MONDO:0044969 ! disease of membrane bound organelle

[Term]
id: MONDO:0044971
name: disease of macromolecular complex
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected

[Term]
id: MONDO:0044972
name: eosinophil disease
def: "A disease or disorder that involves the eosinophil." [MONDO:design_pattern]
synonym: "disease of eosinophil" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of eosinophil" EXACT []
synonym: "disorder of eosinophil" EXACT [MONDO:patterns/location_top]
synonym: "disorder of eosinophil" RELATED [MONDO:patterns/location_top]
synonym: "eosinophil disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:417967008 {source="MONDO:equivalentTo"}
xref: UMLS:C1691020 {source="MONDO:equivalentTo"}
is_a: MONDO:0004805 {source="MONDO:Redundant", source="linkedlifedata"} ! leukocyte disease
property_value: exactMatch http://identifiers.org/snomedct/417967008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1691020

[Term]
id: MONDO:0044974
name: disease of supramolecular complex
is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected

[Term]
id: MONDO:0044975
name: disease of transporter activity
is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted

[Term]
id: MONDO:0044976
name: disease of catalytic activity
synonym: "enzyme disorder" EXACT []
synonym: "enzymopathy" EXACT []
xref: SCTID:78548001 {source="MONDO:equivalentTo"}
xref: UMLS:C0520572 {source="MONDO:equivalentTo"}
is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted
property_value: exactMatch http://identifiers.org/snomedct/78548001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0520572

[Term]
id: MONDO:0044977
name: disease of receptor activity
is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted

[Term]
id: MONDO:0044978
name: disease of cell nucleus
is_a: MONDO:0044969 ! disease of membrane bound organelle

[Term]
id: MONDO:0044979
name: disease by cell type
subset: metaclass
is_a: MONDO:0021197 ! disease by cellular component affected

[Term]
id: MONDO:0044980
name: disease of signal transduction
is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted

[Term]
id: MONDO:0044981
name: pseudoallergy
synonym: "pseudoallergy to substance" EXACT []
xref: ICD9:V15.09 {source="linkedlifedata"}
xref: SCTID:609397002 {source="MONDO:equivalentTo"}
xref: UMLS:C3662273 {source="MONDO:equivalentTo"}
is_a: MONDO:0000605 {source="linkedlifedata/inferred"} ! hypersensitivity reaction disease
property_value: exactMatch http://identifiers.org/snomedct/609397002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662273

[Term]
id: MONDO:0044982
name: drug pseudoallergy
synonym: "drug allergy" RELATED [UMLS:C3662272]
synonym: "drug pseudoallergy" EXACT [UMLS:C3662272]
xref: SCTID:609398007 {source="UMLS:C3662272", source="MONDO:equivalentTo"}
xref: UMLS:C3662272 {source="MONDO:equivalentTo"}
is_a: MONDO:0029001 ! chemically-induced disorder
is_a: MONDO:0044981 ! pseudoallergy
property_value: exactMatch http://identifiers.org/snomedct/609398007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662272

[Term]
id: MONDO:0044983
name: benign lipomatous neoplasm
def: "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." [NCIT:C4502]
synonym: "adipose tissue benign connective and soft tissue neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "benign adipose tissue neoplasm" EXACT [NCIT:C4502]
synonym: "benign adipose tissue tumor" EXACT [NCIT:C4502]
synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern]
synonym: "benign lipomatous neoplasm" EXACT [NCIT:C4502]
synonym: "benign lipomatous tumor" EXACT [NCIT:C4502]
synonym: "benign neoplasm of adipose tissue" EXACT [NCIT:C4502]
synonym: "benign neoplasm of the adipose tissue" EXACT [NCIT:C4502]
synonym: "benign tumor of adipose tissue" EXACT [NCIT:C4502]
synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502]
xref: NCIT:C4502 {source="MONDO:equivalentTo"}
is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4502"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4502"} ! tumor of adipose tissue
property_value: exactMatch NCIT:C4502

[Term]
id: MONDO:0044984
name: nasolacrimal duct disease
def: "A disease or disorder that involves the nasolacrimal duct." [MONDO:patterns/location]
synonym: "disease of nasolacrimal duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasolacrimal duct" EXACT []
synonym: "disorder of nasolacrimal duct" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of nasolacrimal duct" RELATED [MONDO:patterns/location_top]
synonym: "nasolacrimal duct disease" EXACT [MONDO:design_pattern]
synonym: "nasolacrimal duct disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:95767006 {source="MONDO:equivalentTo"}
xref: UMLS:C0521744 {source="MONDO:equivalentTo"}
is_a: MONDO:0001854 ! lacrimal apparatus disease
property_value: exactMatch http://identifiers.org/snomedct/95767006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521744

[Term]
id: MONDO:0044986
name: lymphoid system disease
def: "A disease or disorder that involves the lymphoid system." [MONDO:patterns/location]
synonym: "disease of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lymphoid system" EXACT []
synonym: "disorder of lymphoid system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of lymphoid system" RELATED [MONDO:patterns/location_top]
synonym: "lymphoid system disease" EXACT [MONDO:design_pattern]
synonym: "lymphoid system disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:111590001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disease
property_value: exactMatch http://identifiers.org/snomedct/111590001

[Term]
id: MONDO:0044987
name: face disease
def: "A disease or disorder that involves the face." [MONDO:patterns/location]
synonym: "disease of face" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of face" EXACT []
synonym: "disorder of face" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of face" RELATED [MONDO:patterns/location_top]
synonym: "face disease" EXACT [MONDO:design_pattern]
synonym: "face disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:118930001 {source="MONDO:equivalentTo"}
xref: UMLS:C1290857 {source="MONDO:equivalentTo"}
is_a: MONDO:0005042 ! head disease
property_value: exactMatch http://identifiers.org/snomedct/118930001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290857

[Term]
id: MONDO:0044988
name: hip region disease
def: "A disease or disorder that involves the hip." [MONDO:design_pattern]
synonym: "disease of hip" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of hip" EXACT []
synonym: "disorder of hip" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of hip" RELATED [MONDO:patterns/location_top]
synonym: "disorder of hip region" EXACT [MONDO:design_pattern]
synonym: "hip disease" EXACT [MONDO:design_pattern]
synonym: "hip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:118935006 {source="MONDO:equivalentTo"}
xref: UMLS:C1290862 {source="MONDO:equivalentTo"}
is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region
property_value: exactMatch http://identifiers.org/snomedct/118935006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290862

[Term]
id: MONDO:0044989
name: foot disease
def: "A disease or disorder that involves the pes." [MONDO:patterns/location]
synonym: "disease of pes" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pes" EXACT []
synonym: "disorder of foot" EXACT [MONDO:design_pattern]
synonym: "disorder of pes" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of pes" RELATED [MONDO:patterns/location_top]
synonym: "foot disease" EXACT [MONDO:design_pattern]
synonym: "pes disease" EXACT []
synonym: "pes disease or disorder" EXACT [MONDO:patterns/location]
xref: MESH:D005534 {source="MONDO:equivalentTo"}
xref: SCTID:118932009 {source="MONDO:equivalentTo"}
xref: UMLS:C0016510 {source="MONDO:equivalentTo"}
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/mesh/D005534
property_value: exactMatch http://identifiers.org/snomedct/118932009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0016510

[Term]
id: MONDO:0044990
name: hand disease
def: "A disease or disorder that involves the manus." [MONDO:patterns/location]
synonym: "disease of manus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of manus" EXACT []
synonym: "disorder of hand" EXACT [MONDO:design_pattern]
synonym: "disorder of manus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of manus" RELATED [MONDO:patterns/location_top]
synonym: "hand disease" EXACT [MONDO:design_pattern]
synonym: "manus disease" EXACT []
synonym: "manus disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:118933004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290871 {source="MONDO:equivalentTo"}
is_a: MONDO:0044967 ! limb disorder
property_value: exactMatch http://identifiers.org/snomedct/118933004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290871

[Term]
id: MONDO:0044991
name: upper digestive tract disease
def: "A disease or disorder that involves the upper digestive tract." [MONDO:patterns/location]
synonym: "disease of upper digestive tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of upper digestive tract" EXACT []
synonym: "disorder of upper digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of upper digestive tract" RELATED [MONDO:patterns/location_top]
synonym: "disorder of upper gastrointestinal tract" EXACT [MONDO:design_pattern]
synonym: "upper digestive tract disease or disorder" EXACT [MONDO:patterns/location]
synonym: "upper gastrointestinal tract disease" EXACT [MONDO:design_pattern]
xref: SCTID:119291004 {source="MONDO:equivalentTo"}
is_a: MONDO:0004335 ! digestive system disease
property_value: exactMatch http://identifiers.org/snomedct/119291004

[Term]
id: MONDO:0044992
name: mouth mucosa disease
def: "A disease or disorder that involves the mouth mucosa." [MONDO:patterns/location]
synonym: "disease of mouth mucosa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of mouth mucosa" EXACT []
synonym: "disorder of mouth mucosa" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of mouth mucosa" RELATED [MONDO:patterns/location_top]
synonym: "disorder of oral mucous membrane" EXACT [MONDO:design_pattern]
synonym: "mouth mucosa disease or disorder" EXACT [MONDO:patterns/location]
synonym: "oral mucous membrane disease" EXACT [MONDO:design_pattern]
xref: SCTID:128046007 {source="MONDO:equivalentTo"}
xref: UMLS:C1290071 {source="MONDO:equivalentTo"}
is_a: MONDO:0006858 ! mouth disease
property_value: exactMatch http://identifiers.org/snomedct/128046007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290071

[Term]
id: MONDO:0044993
name: sympathetic nervous system disease
def: "A disease or disorder that involves the sympathetic nervous system." [MONDO:patterns/location]
synonym: "disease of sympathetic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sympathetic nervous system" EXACT []
synonym: "disorder of sympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of sympathetic nervous system" RELATED [MONDO:patterns/location_top]
synonym: "sympathetic nervous system disease" EXACT [MONDO:design_pattern]
synonym: "sympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:50330009 {source="MONDO:equivalentTo"}
is_a: MONDO:0001292 ! autonomic nervous system disease
property_value: exactMatch http://identifiers.org/snomedct/50330009

[Term]
id: MONDO:0044995
name: parasympathetic nervous system disease
def: "A disease or disorder that involves the parasympathetic nervous system." [MONDO:patterns/location]
synonym: "disease of parasympathetic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of parasympathetic nervous system" EXACT []
synonym: "disorder of parasympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of parasympathetic nervous system" RELATED [MONDO:patterns/location_top]
synonym: "parasympathetic nervous system disease" EXACT [MONDO:design_pattern]
synonym: "parasympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:46091002 {source="MONDO:equivalentTo"}
is_a: MONDO:0001292 ! autonomic nervous system disease
property_value: exactMatch http://identifiers.org/snomedct/46091002

[Term]
id: MONDO:0044996
name: cerebral cortex disease
def: "A disease or disorder that involves the cerebral cortex." [MONDO:patterns/location]
synonym: "cerebral cortex disease" EXACT [MONDO:design_pattern]
synonym: "cerebral cortex disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cerebral cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cerebral cortex" EXACT []
synonym: "disorder of cerebral cortex" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of cerebral cortex" RELATED [MONDO:patterns/location_top]
xref: SCTID:128128003 {source="MONDO:equivalentTo"}
xref: UMLS:C1263847 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
property_value: exactMatch http://identifiers.org/snomedct/128128003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263847

[Term]
id: MONDO:0044997
name: midbrain disease
def: "A disease or disorder that involves the midbrain." [MONDO:patterns/location]
synonym: "disease of midbrain" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of midbrain" EXACT []
synonym: "disorder of midbrain" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of midbrain" RELATED [MONDO:patterns/location_top]
synonym: "midbrain disease" EXACT [MONDO:design_pattern]
synonym: "midbrain disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:95641009 {source="MONDO:equivalentTo"}
xref: UMLS:C0521655 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disease
property_value: exactMatch http://identifiers.org/snomedct/95641009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0521655

[Term]
id: MONDO:0044998
name: carpal region disease
def: "A disease or disorder that involves the carpal region." [MONDO:patterns/location]
synonym: "carpal region disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of carpal region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of carpal region" EXACT []
synonym: "disorder of carpal region" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of carpal region" RELATED [MONDO:patterns/location_top]
synonym: "disorder of wrist region" EXACT [MONDO:design_pattern]
synonym: "wrist region disease" EXACT [MONDO:design_pattern]
xref: SCTID:128130001 {source="MONDO:equivalentTo"}
xref: UMLS:C1290872 {source="MONDO:equivalentTo"}
is_a: MONDO:0044990 ! hand disease
property_value: exactMatch http://identifiers.org/snomedct/128130001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1290872

[Term]
id: MONDO:0044999
name: scalp disease
def: "A disease or disorder that involves the scalp." [MONDO:patterns/location]
synonym: "disease of scalp" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of scalp" EXACT []
synonym: "disorder of scalp" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of scalp" RELATED [MONDO:patterns/location_top]
synonym: "scalp disease" EXACT [MONDO:design_pattern]
synonym: "scalp disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:238922006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406629 {source="MONDO:equivalentTo"}
is_a: MONDO:0005042 ! head disease
property_value: exactMatch http://identifiers.org/snomedct/238922006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0406629

[Term]
id: MONDO:0045001
name: cardiac ventricle disease
def: "A disease or disorder that involves the cardiac ventricle." [MONDO:patterns/location]
synonym: "cardiac ventricle disease" EXACT [MONDO:design_pattern]
synonym: "cardiac ventricle disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cardiac ventricle" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cardiac ventricle" EXACT []
synonym: "disorder of cardiac ventricle" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of cardiac ventricle" RELATED [MONDO:patterns/location_top]
xref: SCTID:415991003 {source="MONDO:equivalentTo"}
xref: UMLS:C1562298 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 ! heart disease
property_value: exactMatch http://identifiers.org/snomedct/415991003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1562298

[Term]
id: MONDO:0045002
name: vertebral disease
def: "A disease or disorder that involves the vertebra." [MONDO:patterns/location]
synonym: "disease of vertebra" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vertebra" EXACT []
synonym: "disorder of vertebra" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of vertebra" RELATED [MONDO:patterns/location_top]
synonym: "vertebra disease" EXACT [MONDO:design_pattern]
synonym: "vertebra disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:430886005 {source="MONDO:equivalentTo"}
xref: UMLS:C2316319 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 ! vertebral column disease
property_value: exactMatch http://identifiers.org/snomedct/430886005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2316319

[Term]
id: MONDO:0045003
name: scrotal disease
def: "A disease or disorder that involves the scrotum." [MONDO:patterns/location]
synonym: "disease of scrotum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of scrotum" EXACT []
synonym: "disorder of scrotum" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of scrotum" RELATED [MONDO:patterns/location_top]
synonym: "scrotum disease" EXACT [MONDO:design_pattern]
synonym: "scrotum disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:49701002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268919 {source="MONDO:equivalentTo"}
is_a: MONDO:0003150 ! male reproductive system disease
property_value: exactMatch http://identifiers.org/snomedct/49701002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268919

[Term]
id: MONDO:0045004
name: skeletal ligament disease
def: "A disease or disorder that involves the skeletal ligament." [MONDO:patterns/location]
synonym: "disease of skeletal ligament" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal ligament" EXACT []
synonym: "disorder of skeletal ligament" EXACT [MONDO:patterns/location_top]
synonym: "disorder of skeletal ligament" RELATED [MONDO:patterns/location_top]
synonym: "skeletal ligament disease or disorder" EXACT [MONDO:patterns/location]
is_a: MONDO:0005172 ! skeletal system disease
is_a: MONDO:0045044 ! ligament disease

[Term]
id: MONDO:0045008
name: cholesterol metabolism disease
def: "A disease that has its basis in the disruption of cholesterol metabolic process." [MONDO:design_pattern]
comment: Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder)
synonym: "cholesterol metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "cholesterol metabolism disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol metabolism" EXACT [MONDO:design_pattern]
xref: SCTID:123963007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342877 {source="MONDO:equivalentTo"}
is_a: MONDO:0019256 ! sterol metabolism disorder
property_value: exactMatch http://identifiers.org/snomedct/123963007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342877

[Term]
id: MONDO:0045010
name: glycoprotein metabolism disease
def: "A disease that has its basis in the disruption of glycoprotein metabolic process." [MONDO:design_pattern]
comment: Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder)
synonym: "disorder of glycoprotein metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycoprotein metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycoprotein metabolism" EXACT [MONDO:design_pattern]
synonym: "glycoprotein metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "glycoprotein metabolism disease" EXACT [MONDO:design_pattern]
xref: SCTID:238045003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342844 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="linkedlifedata"} ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/snomedct/238045003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342844

[Term]
id: MONDO:0045011
name: keratinization disease
synonym: "disorder of keratinization" EXACT [MONDO:design_pattern]
synonym: "keratinization disease" EXACT [MONDO:design_pattern]
xref: SCTID:277905003 {source="MONDO:equivalentTo"}
xref: UMLS:C0475811 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="linkedlifedata"} ! integumentary system disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/snomedct/277905003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0475811

[Term]
id: MONDO:0045012
name: steroid metabolism disease
def: "A disease that has its basis in the disruption of steroid metabolic process." [MONDO:design_pattern]
synonym: "disorder of steroid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of steroid metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of steroid metabolism" EXACT [MONDO:design_pattern]
synonym: "steroid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "steroid metabolism disease" EXACT [MONDO:design_pattern]
xref: SCTID:28710006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/28710006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268283

[Term]
id: MONDO:0045013
name: disease of extraembryonic membrane
def: "A disease or disorder that involves the extraembryonic membrane." [MONDO:patterns/location]
synonym: "disease of extraembryonic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of extraembryonic membrane" EXACT []
synonym: "disorder of extraembryonic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disorder of extraembryonic membrane" RELATED [MONDO:patterns/location_top]
synonym: "extraembryonic membrane disease" EXACT []
synonym: "extraembryonic membrane disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:609522002 {source="MONDO:equivalentTo"}
xref: UMLS:C3662139 {source="MONDO:equivalentTo"}
is_a: MONDO:0005917 ! placenta disease
property_value: exactMatch http://identifiers.org/snomedct/609522002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3662139

[Term]
id: MONDO:0045014
name: tetrahydrobiopterin metabolic process disease
def: "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." [MONDO:design_pattern]
synonym: "disorder of tetrahydrobiopterin metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of tetrahydrobiopterin metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of tetrahydrobiopterin metabolism" EXACT [MONDO:design_pattern]
synonym: "tetrahydrobiopterin metabolism disease" EXACT [MONDO:design_pattern]
xref: SCTID:237913008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342676 {source="MONDO:equivalentTo"}
is_a: MONDO:0017306 {source="linkedlifedata"} ! disorder of phenylalanine metabolism
property_value: exactMatch http://identifiers.org/snomedct/237913008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342676

[Term]
id: MONDO:0045015
name: carbohydrate transport disease
def: "A disease that has its basis in the disruption of carbohydrate transport." [MONDO:design_pattern]
synonym: "carbohydrate transport disease" EXACT [MONDO:design_pattern]
synonym: "disorder of carbohydrate transport" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of carbohydrate transport" RELATED [MONDO:patterns/basis_in_disruption_of_process]
xref: SCTID:54905006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268173 {source="MONDO:equivalentTo"}
is_a: MONDO:0037792 {source="linkedlifedata"} ! carbohydrate metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/54905006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268173

[Term]
id: MONDO:0045016
name: cholesterol catabolic process disease
def: "A disease that has its basis in the disruption of cholesterol catabolic process." [MONDO:design_pattern]
synonym: "cholesterol catabolism disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol catabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol catabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol catabolism" EXACT [MONDO:design_pattern]
xref: SCTID:238032002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342825 {source="MONDO:equivalentTo"}
is_a: MONDO:0045008 {source="MONDO:Redundant", source="linkedlifedata"} ! cholesterol metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/238032002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342825

[Term]
id: MONDO:0045017
name: cholesterol biosynthetic process disease
def: "A disease that has its basis in the disruption of cholesterol biosynthetic process." [MONDO:design_pattern]
synonym: "cholesterol synthesis disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol biosynthetic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol synthesis" EXACT [MONDO:design_pattern]
xref: SCTID:238036004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342829 {source="MONDO:equivalentTo"}
is_a: MONDO:0019240 ! sterol biosynthesis disorder
is_a: MONDO:0045008 {source="MONDO:Redundant", source="linkedlifedata"} ! cholesterol metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/238036004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0342829

[Term]
id: MONDO:0045018
name: creatine biosynthetic process disease
def: "A disease that has its basis in the disruption of creatine biosynthetic process." [MONDO:design_pattern]
synonym: "creatine synthesis disease" EXACT [MONDO:design_pattern]
synonym: "disorder of creatine biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of creatine biosynthetic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of creatine synthesis" EXACT [MONDO:design_pattern]
xref: SCTID:297226004 {source="MONDO:equivalentTo"}
xref: UMLS:C0574079 {source="MONDO:equivalentTo"}
is_a: MONDO:0037871 {source="MONDO:Redundant", source="linkedlifedata"} ! amino acid metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/297226004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0574079

[Term]
id: MONDO:0045019
name: lactation disease
synonym: "disorder of lactation" EXACT [MONDO:design_pattern]
synonym: "lactation disease" EXACT [MONDO:design_pattern]
xref: SCTID:35046003 {source="MONDO:equivalentTo"}
xref: UMLS:C0022927 {source="MONDO:equivalentTo"}
is_a: MONDO:0002657 {source="linkedlifedata"} ! breast disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
property_value: exactMatch http://identifiers.org/snomedct/35046003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0022927

[Term]
id: MONDO:0045020
name: glycine metabolism disease
def: "A disease that has its basis in the disruption of glycine metabolic process." [MONDO:design_pattern]
synonym: "disorder of glycine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycine metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycine metabolism" EXACT [MONDO:design_pattern]
synonym: "glycine metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "glycine metabolism disease" EXACT [MONDO:design_pattern]
xref: SCTID:83076007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268558 {source="MONDO:equivalentTo"}
is_a: MONDO:0037871 ! amino acid metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/83076007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0268558

[Term]
id: MONDO:0045021
name: obsolete sucrose intolerance disease
comment: See https://github.com/monarch-initiative/mondo/issues/886
synonym: "sucrose intolerance" EXACT []
xref: ICD9:271.3 {source="linkedlifedata"}
xref: SCTID:190753003 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/snomedct/190753003
is_obsolete: true
consider: MONDO:0009114

[Term]
id: MONDO:0045022
name: disorder of organic acid metabolism
def: "A disease that has its basis in the disruption of organic acid metabolic process." [MONDO:design_pattern]
synonym: "disorder of organic acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of organic acid metabolic process" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of organic acid metabolism" EXACT []
synonym: "organic acid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "organic acid metabolism disorder" EXACT []
xref: ICD9:277.89 {source="linkedlifedata"}
xref: SCTID:116021002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease
property_value: exactMatch http://identifiers.org/snomedct/116021002

[Term]
id: MONDO:0045023
name: acquired adrenogenital syndrome
def: "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired adrenogenital syndrome" EXACT [MONDO:patterns/acquired]
xref: SCTID:190512008 {source="MONDO:equivalentTo"}
xref: UMLS:C0237971 {source="MONDO:equivalentTo"}
is_a: MONDO:0006504 ! acquired metabolic disease
is_a: MONDO:0015898 ! adrenogenital syndrome
intersection_of: MONDO:0015898 ! adrenogenital syndrome
intersection_of: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/190512008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0237971

[Term]
id: MONDO:0045024
name: cell proliferation disorder
def: "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." [MONDO:cjm]
is_a: MONDO:0000001 ! disease or disorder
union_of: MONDO:0005043 ! hyperplasia
union_of: MONDO:0021074 ! precancerous condition
union_of: MONDO:0023370 ! neoplastic disease or syndrome
union_of: MONDO:0045054 ! cancer-related condition

[Term]
id: MONDO:0045028
name: radiation or chemically induced disorder
def: "A disease or disorder that is induced by either chemical or radiation exposure." [MONDO:cjm]
is_a: MONDO:0000001 ! disease or disorder
union_of: MONDO:0029001 ! chemically-induced disorder
union_of: MONDO:0043459 ! radiation-induced disorder

[Term]
id: MONDO:0045029
name: obsolete Deuteromycetes infectious disease
synonym: "infection by Deuteromycetes" EXACT []
synonym: "infection caused by Deuteromycetes" RELATED []
xref: SCTID:59258008 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/snomedct/59258008
is_obsolete: true
consider: MONDO:0002041

[Term]
id: MONDO:0045030
name: non-infectious diarrheal disease
synonym: "non-infective diarrhea" EXACT []
synonym: "presumed non-infectious diarrhea" RELATED []
xref: SCTID:69980003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267436 {source="MONDO:equivalentTo"}
is_a: MONDO:0001673 {source="linkedlifedata"} ! diarrheal disease
disjoint_from: MONDO:0045031 ! infectious diarrheal disease
property_value: exactMatch http://identifiers.org/snomedct/69980003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267436

[Term]
id: MONDO:0045031
name: infectious diarrheal disease
synonym: "infectious diarrhea" RELATED []
synonym: "infectious diarrheal disease" EXACT []
synonym: "infective diarrhea" RELATED []
xref: SCTID:19213003 {source="MONDO:equivalentTo"}
is_a: MONDO:0001673 ! diarrheal disease
is_a: MONDO:0043424 ! digestive system infectious disease
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: MONDO:0005550 ! infectious disease
property_value: exactMatch http://identifiers.org/snomedct/19213003

[Term]
id: MONDO:0045032
name: congenital secretory diarrhea
synonym: "congenital secretory diarrhea" EXACT []
xref: ICD9:579.8 {source="linkedlifedata"}
xref: SCTID:25898005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267661 {source="MONDO:equivalentTo"}
is_a: MONDO:0000249 ! secretory diarrhea
is_a: MONDO:0000824 ! congenital diarrhea
intersection_of: MONDO:0000249 ! secretory diarrhea
intersection_of: MONDO:0000824 ! congenital diarrhea
property_value: exactMatch http://identifiers.org/snomedct/25898005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267661

[Term]
id: MONDO:0045033
name: opportunistic systemic mycosis
def: "A mycosis that arises from infection in an immunologically compromised host and is systemic." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
is_a: MONDO:0000256 ! systemic mycosis
is_a: MONDO:0002312 ! opportunistic mycosis
intersection_of: MONDO:0000256 ! systemic mycosis
intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious

[Term]
id: MONDO:0045034
name: infectious disease characteristic
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0045035
name: opportunistic infectious
def: "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
is_a: MONDO:0045034 ! infectious disease characteristic

[Term]
id: MONDO:0045036
name: primary infectious
def: "A characteristic of an infectious disease in which the disease affects an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
is_a: MONDO:0045034 ! infectious disease characteristic

[Term]
id: MONDO:0045037
name: hyalohyphomycosis
def: "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host." [MESH:D060605]
synonym: "hyalohyphomycosis" EXACT []
xref: MESH:D060605 {source="MONDO:equivalentTo"}
xref: SCTID:240773008 {source="MONDO:equivalentTo"}
xref: UMLS:C0343952 {source="MONDO:equivalentTo"}
is_a: MONDO:0002312 ! opportunistic mycosis
property_value: exactMatch http://identifiers.org/mesh/D060605
property_value: exactMatch http://identifiers.org/snomedct/240773008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343952

[Term]
id: MONDO:0045038
name: cutaneous basidiobolomycosis
xref: SCTID:240786004 {source="MONDO:equivalentTo"}
xref: UMLS:C0343966 {source="MONDO:equivalentTo"}
is_a: MONDO:0000254 ! cutaneous mycosis
is_a: MONDO:0000302 ! basidiobolomycosis
property_value: exactMatch http://identifiers.org/snomedct/240786004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343966

[Term]
id: MONDO:0045039
name: systemic basidiobolomycosis
synonym: "disseminated basidiobolomycosis" EXACT []
xref: SCTID:240787008 {source="MONDO:equivalentTo"}
xref: UMLS:C0343967 {source="MONDO:equivalentTo"}
is_a: MONDO:0000302 {source="linkedlifedata"} ! basidiobolomycosis
property_value: exactMatch http://identifiers.org/snomedct/240787008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0343967

[Term]
id: MONDO:0045040
name: locational disease characteristic
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0045042
name: localized
is_a: MONDO:0045040 ! locational disease characteristic

[Term]
id: MONDO:0045043
name: disease of uterine broad ligament
def: "A disease or disorder that involves the broad ligament of uterus." [MONDO:patterns/location]
synonym: "broad ligament of uterus disease" EXACT []
synonym: "broad ligament of uterus disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of broad ligament of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of broad ligament of uterus" EXACT []
synonym: "disorder of broad ligament" EXACT []
synonym: "disorder of broad ligament of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of broad ligament of uterus" RELATED [MONDO:patterns/location_top]
xref: SCTID:237062006 {source="MONDO:equivalentTo"}
xref: UMLS:C0404479 {source="MONDO:equivalentTo"}
is_a: MONDO:0045044 ! ligament disease
property_value: exactMatch http://identifiers.org/snomedct/237062006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0404479

[Term]
id: MONDO:0045044
name: ligament disease
def: "A disease or disorder that involves the ligament." [MONDO:patterns/location]
synonym: "disease of ligament" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ligament" EXACT []
synonym: "disorder of ligament" EXACT [MONDO:patterns/location_top]
synonym: "disorder of ligament" RELATED [MONDO:patterns/location_top]
synonym: "ligament disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:60492000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263976 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 ! musculoskeletal system disease
property_value: exactMatch http://identifiers.org/snomedct/60492000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263976

[Term]
id: MONDO:0045045
name: selective IgG immunodeficiency
def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." [NCIT:C27142]
synonym: "IgG deficiency" RELATED [GARD:0010371]
synonym: "IgG subclass deficiency" RELATED [GARD:0010371]
synonym: "selective IgG immunodeficiency" EXACT [NCIT:C27142]
xref: GARD:0010371 {source="MONDO:equivalentTo"}
xref: NCIT:C27142 {source="MONDO:equivalentTo"}
xref: SCTID:12631000119106 {source="MONDO:equivalentTo"}
xref: UMLS:C0162539 {source="MONDO:equivalentTo"}
is_a: MONDO:0001342 ! dysgammaglobulinemia (disease)
property_value: exactMatch http://identifiers.org/snomedct/12631000119106
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0162539
property_value: exactMatch NCIT:C27142

[Term]
id: MONDO:0045046
name: inherited thyroid metabolism disease
def: "An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn thyroid hormone metabolic process disorder" EXACT []
synonym: "inherited disorder of thyroid metabolism" EXACT []
synonym: "rare inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of thyroid hormone metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
xref: ICD9:246.8
xref: SCTID:36985004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271824 {source="MONDO:equivalentTo"}
is_a: MONDO:0003240 {source="linkedlifedata"} ! thyroid gland disease
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: exactMatch http://identifiers.org/snomedct/36985004
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0271824

[Term]
id: MONDO:0045047
name: neurosarcoidosis
def: "A sarcoidosis that involves the nervous system." [MONDO:patterns/location]
synonym: "nervous system sarcoidosis" EXACT [MONDO:patterns/location]
synonym: "neurosarcoidosis" EXACT []
synonym: "sarcoidosis of nervous system" EXACT []
xref: MESH:C535814 {source="MONDO:equivalentTo"}
xref: SCTID:230193008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393485 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0019338 ! sarcoidosis
property_value: exactMatch http://identifiers.org/mesh/C535814
property_value: exactMatch http://identifiers.org/snomedct/230193008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0393485

[Term]
id: MONDO:0045048
name: toxemia of pregnancy
def: "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." [NCIT:C34943]
synonym: "toxemia of pregnancy" EXACT [NCIT:C34943]
xref: NCIT:C34943 {source="MONDO:equivalentTo"}
is_a: MONDO:0024664 {source="NCIT:C34943"} ! hypertension, pregnancy-induced
property_value: exactMatch NCIT:C34943

[Term]
id: MONDO:0045049
name: hypermature cataract
synonym: "hypermature cataract" EXACT []
xref: ICD9:366.18 {source="linkedlifedata"}
xref: SCTID:267626000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="linkedlifedata"} ! cataract (disease)
property_value: exactMatch http://identifiers.org/snomedct/267626000

[Term]
id: MONDO:0045050
name: nuclear cataract
def: "A cataract (disease) that involves the lens nucleus." [MONDO:design_pattern]
synonym: "cataract (disease) of lens nucleus" EXACT []
synonym: "lens nucleus cataract (disease)" EXACT [MONDO:patterns/location]
xref: HP:0100018
xref: ICD9:366.04 {source="linkedlifedata"}
xref: SCTID:53889007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="MONDO:Redundant", source="linkedlifedata"} ! cataract (disease)
property_value: exactMatch http://identifiers.org/snomedct/53889007

[Term]
id: MONDO:0045051
name: cortical cataract
def: "A cataract (disease) that involves the lens cortex." [MONDO:patterns/location]
synonym: "cataract (disease) of lens cortex" EXACT []
synonym: "lens cortex cataract (disease)" EXACT [MONDO:patterns/location]
xref: ICD9:366.03 {source="linkedlifedata"}
xref: SCTID:193576003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 ! cataract (disease)
property_value: exactMatch http://identifiers.org/snomedct/193576003

[Term]
id: MONDO:0045052
name: benign osteogenic neoplasm
def: "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." [NCIT:C6602]
synonym: "benign osseous neoplasm" EXACT [NCIT:C6602]
synonym: "benign osseous tumor" EXACT [NCIT:C6602]
synonym: "benign osteogenic neoplasm" EXACT [NCIT:C6602]
synonym: "benign osteogenic tumor" EXACT [NCIT:C6602]
synonym: "osteogenic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: NCIT:C6602 {source="MONDO:equivalentTo"}
is_a: MONDO:0000654 {source="NCIT:C6602"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0045053 {source="MONDO:Redundant", source="NCIT:C6602"} ! osteogenic neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1332523
property_value: exactMatch NCIT:C6602

[Term]
id: MONDO:0045053
name: osteogenic neoplasm
def: "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." [NCIT:C6603]
synonym: "osseous neoplasm" EXACT [NCIT:C6603]
synonym: "osseous tumor" EXACT [NCIT:C6603]
synonym: "osteogenic neoplasm" EXACT [NCIT:C6603]
synonym: "osteogenic tumor" EXACT [NCIT:C6603]
xref: NCIT:C6603 {source="MONDO:equivalentTo"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6603"} ! mesenchymal cell neoplasm
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1335146
property_value: exactMatch NCIT:C6603

[Term]
id: MONDO:0045054
name: cancer-related condition
def: "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." [NCIT:C8278]
synonym: "cancer related problem/condition" EXACT [NCIT:C8278]
synonym: "cancer-related condition" EXACT [NCIT:C8278]
synonym: "cancer-related problem or condition" EXACT [NCIT:C8278]
synonym: "oncologic complications" EXACT [NCIT:C8278]
synonym: "problem/condition, cancer related" EXACT [NCIT:C8278]
synonym: "problem/condition, cancer-related" EXACT [NCIT:C8278]
xref: NCIT:C8278 {source="MONDO:equivalentTo"}
xref: UMLS:C0280950 {source="MONDO:equivalentTo"}
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0280950
property_value: exactMatch NCIT:C8278

[Term]
id: MONDO:0045055
name: glycogen-rich carcinoma
def: "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." [NCIT:C4153]
synonym: "Glycogen-rich carcinoma" EXACT [NCIT:C4153]
xref: NCIT:C4153 {source="MONDO:equivalentTo"}
is_a: MONDO:0004993 {source="NCIT:C4153"} ! carcinoma
property_value: exactMatch NCIT:C4153

[Term]
id: MONDO:0045056
name: grade II meningioma
def: "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." [NCIT:C38937]
synonym: "grade 2 meningioma" EXACT [NCIT:C38937]
synonym: "grade II meningioma" EXACT [NCIT:C38937]
synonym: "WHO grade II meningioma" EXACT [NCIT:C38937]
xref: NCIT:C38937 {source="MONDO:equivalentTo"}
xref: UMLS:C1512259 {source="MONDO:equivalentTo"}
is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C38937"} ! meningioma (disease)
intersection_of: MONDO:0016642 {source="NCIT:C38937"} ! meningioma (disease)
intersection_of: has_modifier MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system
relationship: has_modifier MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1512259
property_value: exactMatch NCIT:C38937

[Term]
id: MONDO:0045057
name: delirium
def: "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693]
synonym: "OBS syndrome" RELATED [PMID:15876360]
synonym: "organic brain syndrome" RELATED []
xref: EFO:0009267 {source="MONDO:equivalentTo"}
xref: ICD9:293.0 {source="linkedlifedata"}
xref: MESH:D003693 {source="MONDO:equivalentTo"}
xref: SCTID:2776000 {source="MONDO:equivalentTo"}
xref: UMLS:C0011206 {source="MONDO:equivalentTo"}
is_a: MONDO:0002039 {source="MESH:D003693"} ! cognitive disorder
property_value: exactMatch http://identifiers.org/mesh/D003693
property_value: exactMatch http://identifiers.org/snomedct/2776000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0011206

[Term]
id: MONDO:0045058
name: ACTH-producing pituitary gland neoplasm
def: "An adenoma or carcinoma of the pituitary gland that produces corticotropin." [NCIT:C7909]
synonym: "ACTH producing pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary tumor" EXACT [NCIT:C7909]
synonym: "ACTH-secreting tumor of pituitary" EXACT [NCIT:C7909]
synonym: "ACTH-secreting tumor of the pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [NCIT:C7909]
synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "pituitary corticotropin secreting neoplasm" EXACT [NCIT:C7909]
synonym: "pituitary corticotropin secreting tumor" EXACT [NCIT:C7909]
xref: NCIT:C7909 {source="MONDO:equivalentTo"}
xref: UMLS:C0278862 {source="MONDO:equivalentTo"}
is_a: MONDO:0017611 ! pituitary tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0278862
property_value: exactMatch NCIT:C7909

[Term]
id: MONDO:0045059
name: cribriform carcinoma of breast
synonym: "cribriform carcinoma" BROAD [NCI2004_11_17:C3680]
synonym: "ductal carcinoma, cribriform type" EXACT [DOID:5675]
xref: DOID:5675 {source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="DOID:5675", source="MONDO:Redundant"} ! breast carcinoma
is_a: MONDO:0006176 ! cribriform carcinoma
property_value: closeMatch http://identifiers.org/snomedct/30156004
property_value: exactMatch DOID:5675

[Term]
id: MONDO:0045060
name: intraductal cribriform breast adenocarcinoma
def: "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern." [NCIT:C5138]
synonym: "cribriform DCIS of breast" EXACT [NCIT:C5138]
synonym: "cribriform DCIS of the breast" EXACT [NCIT:C5138]
synonym: "cribriform ductal breast carcinoma in situ" EXACT [NCIT:C5138]
synonym: "cribriform ductal carcinoma in situ of breast" EXACT [NCIT:C5138]
synonym: "cribriform ductal carcinoma in situ of the breast" EXACT [NCIT:C5138]
synonym: "DCIS of breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "DCIS of the breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "ductal carcinoma in situ of breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "ductal carcinoma in situ of the breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "intraductal cribriform breast adenocarcinoma" EXACT [NCIT:C5138]
synonym: "non-infiltrating cribriform ductal breast carcinoma" EXACT [NCIT:C5138]
synonym: "non-invasive cribriform ductal breast carcinoma" EXACT [NCIT:C5138]
xref: ICDO:8201/2 {source="NCIT:C5138"}
xref: NCIT:C5138 {source="MONDO:equivalentTo"}
xref: UMLS:C1334248 {source="MONDO:equivalentTo", source="NCIT:C5138"}
is_a: MONDO:0005023 {source="MONDO:Redundant", source="NCIT:C5138"} ! ductal breast carcinoma in situ
is_a: MONDO:0045059 ! cribriform carcinoma of breast
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334248
property_value: exactMatch NCIT:C5138

[Term]
id: MONDO:0045063
name: major salivary gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5905]
synonym: "adenoid cystic carcinoma of major salivary gland" EXACT [NCIT:C5905]
synonym: "adenoid cystic carcinoma of the major salivary gland" EXACT [NCIT:C5905]
synonym: "major salivary gland adenoid cystic cancer" EXACT [NCIT:C5905]
synonym: "major salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5905]
xref: NCIT:C5905 {source="MONDO:equivalentTo"}
xref: UMLS:C1334548 {source="MONDO:equivalentTo"}
is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5905"} ! salivary gland adenoid cystic carcinoma
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5905"} ! major salivary gland carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334548
property_value: exactMatch NCIT:C5905

[Term]
id: MONDO:0045068
name: minor salivary gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." [NCIT:C5936]
synonym: "adenoid cystic carcinoma of minor salivary gland" EXACT [NCIT:C5936]
synonym: "adenoid cystic carcinoma of the minor salivary gland" EXACT [NCIT:C5936]
synonym: "minor salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5936]
xref: NCIT:C5936 {source="MONDO:equivalentTo"}
xref: UMLS:C1334769 {source="MONDO:equivalentTo"}
is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5936"} ! salivary gland adenoid cystic carcinoma
is_a: MONDO:0006304 ! minor salivary gland adenocarcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334769
property_value: exactMatch NCIT:C5936

[Term]
id: MONDO:0045069
name: minor salivary gland carcinoma
def: "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." [NCIT:C5957]
synonym: "carcinoma of minor salivary gland" EXACT [MONDO:patterns/carcinoma, NCIT:C5957]
synonym: "carcinoma of the minor salivary gland" EXACT [NCIT:C5957]
synonym: "minor salivary gland cancer" EXACT [NCIT:C5957]
synonym: "minor salivary gland carcinoma" EXACT [NCIT:C5957]
xref: NCIT:C5957 {source="MONDO:equivalentTo"}
xref: UMLS:C1334771 {source="MONDO:equivalentTo", source="NCIT:C5957"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5957"} ! salivary gland carcinoma
is_a: MONDO:0021316 {source="MONDO:Redundant", source="NCIT:C5957"} ! malignant tumor of minor salivary gland
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334771
property_value: exactMatch NCIT:C5957

[Term]
id: MONDO:0045070
name: digestive system melanoma
def: "A melanoma that arises from any part of the digestive system." [NCIT:C7091]
synonym: "digestive system melanoma" EXACT [NCIT:C7091]
synonym: "digestive system melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gastrointestinal melanoma" EXACT [NCIT:C7091]
synonym: "melanoma (disease) of digestive system" EXACT []
xref: GARD:0010409 {source="MONDO:equivalentTo"}
xref: NCIT:C7091 {source="MONDO:equivalentTo"}
xref: UMLS:C1333798 {source="MONDO:equivalentTo", source="NCIT:C7091"}
is_a: MONDO:0002516 {source="NCIT:C7091"} ! digestive system cancer
is_a: MONDO:0006320 {source="NCIT:C7091"} ! non-cutaneous melanoma
is_a: MONDO:0021069 ! malignant endocrine neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1333798
property_value: exactMatch NCIT:C7091

[Term]
id: MONDO:0045071
name: mycosis fungoides variant
synonym: "mycosis fungoides variant" EXACT [NCIT:C39644]
xref: NCIT:C39644 {source="MONDO:equivalentTo"}
xref: UMLS:C1513782 {source="MONDO:equivalentTo"}
is_a: MONDO:0000607 {source="NCIT:C39644"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0015821 {source="MONDO:cjm"} ! mycosis fungoides and variants
relationship: disease_shares_features_of MONDO:0009691 {source="MONDO:cjm"} ! mycosis fungoides
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1513782
property_value: exactMatch NCIT:C39644

[Term]
id: MONDO:0045072
name: ectopic hormone secretion syndrome associated with neoplasia
def: "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:C4065]
synonym: "ectopic hormone secretion syndrome associated with neoplasia" EXACT [NCIT:C4065]
synonym: "neoplasm associated ectopic hormone secretion syndrome" EXACT [NCIT:C4065]
xref: NCIT:C4065 {source="MONDO:equivalentTo"}
xref: UMLS:C0851689 {source="MONDO:equivalentTo"}
is_a: MONDO:0021058 {source="NCIT:C4065"} ! neoplastic syndrome
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0851689
property_value: exactMatch NCIT:C4065

[Term]
id: MONDO:0049221
name: myopia 26, X-linked, female-limited
synonym: "myopia 26, X-linked, female-limited; MYP26" RELATED [OMIM:301010]
synonym: "MYP26" RELATED [OMIM:301010]
xref: OMIM:301010 {source="MONDO:equivalentTo"}
xref: UMLS:C4538795 {source="OMIM:301010", source="MONDO:equivalentTo"}
is_a: MONDO:0001384 {source="OMIM:301010"} ! myopia (disease)
property_value: exactMatch http://identifiers.org/omim/301010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4538795

[Term]
id: MONDO:0049222
name: intellectual disability, x-linked 107
synonym: "mental retardation, X-linked 107; MRX107" RELATED [OMIM:301013]
synonym: "MRX107" RELATED [OMIM:301013]
xref: OMIM:301013 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="OMIM:301013"} ! non-syndromic X-linked intellectual disability
property_value: exactMatch http://identifiers.org/omim/301013

[Term]
id: MONDO:0049223
name: osteogenesis imperfecta, type 19
synonym: "OI19" RELATED [OMIM:301014]
synonym: "osteogenesis imperfecta, type XIX; OI19" RELATED [OMIM:301014]
xref: OMIM:301014 {source="MONDO:equivalentTo"}
xref: UMLS:CN252653 {source="MONDO:equivalentTo"}
is_a: MONDO:0019019 {source="OMIM:301014"} ! osteogenesis imperfecta
property_value: exactMatch http://identifiers.org/omim/301014
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252653

[Term]
id: MONDO:0054549
name: peroxisome biogenesis disorder 10b
synonym: "PBD10B" RELATED [OMIM:617370]
synonym: "peroxisome biogenesis disorder 10B; PBD10B" RELATED [OMIM:617370]
xref: OMIM:617370 {source="MONDO:equivalentTo"}
is_a: MONDO:0019234 {source="OMIM:617370"} ! peroxisome biogenesis disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479254
property_value: exactMatch http://identifiers.org/omim/617370

[Term]
id: MONDO:0054550
name: avascular necrosis of femoral head, primary, 1
synonym: "ANFH1" RELATED [OMIM:608805]
synonym: "avascular necrosis of femoral head, primary, 1; ANFH1" RELATED [OMIM:608805]
synonym: "femoral head, aseptic necrosis of" RELATED [OMIM:608805]
synonym: "Femoral head, avascular necrosis of" RELATED [OMIM:608805]
synonym: "ischemic necrosis of femoral head" RELATED [OMIM:608805]
synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805]
xref: OMIM:608805 {source="MONDO:equivalentTo"}
is_a: MONDO:0012126 {source="OMIM:608805"} ! familial avascular necrosis of femoral head
is_a: MONDO:0022800 ! collagenopathy type 2 alpha 1
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0410480
property_value: exactMatch http://identifiers.org/omim/608805

[Term]
id: MONDO:0054551
name: avascular necrosis of femoral head, primary, 2
synonym: "ANFH2" RELATED [OMIM:617383]
synonym: "avascular necrosis of femoral head, primary, 2; ANFH2" RELATED [OMIM:617383]
xref: OMIM:617383 {source="MONDO:equivalentTo"}
is_a: MONDO:0012126 {source="OMIM:617383"} ! familial avascular necrosis of femoral head
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479260
property_value: exactMatch http://identifiers.org/omim/617383

[Term]
id: MONDO:0054559
name: congenital disorder of glycosylation, type IIq
synonym: "CDG Iiq" RELATED [OMIM:617395]
synonym: "CDG2Q" RELATED [OMIM:617395]
synonym: "congenital disorder of glycosylation, type IIq; CDG2Q" RELATED [OMIM:617395]
xref: DOID:0070269 {source="MONDO:equivalentTo"}
xref: OMIM:617395 {source="MONDO:equivalentTo"}
is_a: MONDO:0005501 {source="OMIM:617395"} ! congenital disorder of glycosylation type II
property_value: exactMatch DOID:0070269
property_value: exactMatch http://identifiers.org/omim/617395

[Term]
id: MONDO:0054560
name: anauxetic dysplasia 1
synonym: "anauxetic dysplasia" RELATED [OMIM:607095]
synonym: "anauxetic dysplasia 1; ANXD1" RELATED [OMIM:607095]
synonym: "ANXD1" RELATED [OMIM:607095]
synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, Menger type" RELATED [OMIM:607095]
xref: OMIM:607095 {source="MONDO:equivalentTo"}
is_a: MONDO:0011773 {source="OMIM:607095"} ! anauxetic dysplasia
property_value: exactMatch http://identifiers.org/omim/607095

[Term]
id: MONDO:0054561
name: anauxetic dysplasia 2
synonym: "anauxetic dysplasia 2; ANXD2" RELATED [OMIM:617396]
synonym: "ANXD2" RELATED [OMIM:617396]
xref: OMIM:617396 {source="MONDO:equivalentTo"}
is_a: MONDO:0011773 {source="OMIM:617396"} ! anauxetic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479357
property_value: exactMatch http://identifiers.org/omim/617396

[Term]
id: MONDO:0054565
name: short-rib thoracic dysplasia 17 with or without polydactyly
synonym: "short-rib thoracic dysplasia 17 with or without POLYDACTYLY; SRTD17" RELATED [OMIM:617405]
synonym: "SRTD17" RELATED [OMIM:617405]
xref: OMIM:617405 {source="MONDO:equivalentTo"}
is_a: MONDO:0018770 {source="OMIM:617405"} ! Jeune syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479416
property_value: exactMatch http://identifiers.org/omim/617405

[Term]
id: MONDO:0054573
name: Lopes-Maciel-Rodan syndrome
synonym: "LOMARS" RELATED [OMIM:617435]
synonym: "Lopes-Maciel-Rodan syndrome; LOMARS" RELATED [OMIM:617435]
xref: OMIM:617435 {source="MONDO:equivalentTo"}
xref: UMLS:C4479491 {source="OMIM:617435", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDOLEX:0022089"} ! syndromic disease
property_value: exactMatch http://identifiers.org/omim/617435
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479491

[Term]
id: MONDO:0054577
name: bleeding disorder, platelet-type, 21
synonym: "BDPLT21" RELATED [OMIM:617443]
synonym: "bleeding disorder, platelet-type, 21; BDPLT21" RELATED [OMIM:617443]
xref: OMIM:617443 {source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="OMIM:617443"} ! inherited bleeding disorder, platelet-type
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479515
property_value: exactMatch http://identifiers.org/omim/617443

[Term]
id: MONDO:0054581
name: Townes-Brocks syndrome 1
synonym: "anus, imperforate, with hand, Foot, and Ear anomalies" RELATED [OMIM:107480]
synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480]
synonym: "rear syndrome" RELATED [OMIM:107480]
synonym: "renal-ear-anal-radial syndrome" RELATED [OMIM:107480]
synonym: "TBS1" RELATED [OMIM:107480]
synonym: "Townes-Brocks syndrome 1; TBS1" RELATED [OMIM:107480]
synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480]
xref: OMIM:107480 {source="MONDO:equivalentTo"}
is_a: MONDO:0007142 {source="OMIM:107480"} ! Townes-Brocks syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1862683
property_value: exactMatch http://identifiers.org/omim/107480

[Term]
id: MONDO:0054582
name: Townes-Brocks syndrome 2
synonym: "TBS2" RELATED [OMIM:617466]
synonym: "Townes-Brocks syndrome 2; TBS2" RELATED [OMIM:617466]
xref: OMIM:617466 {source="MONDO:equivalentTo"}
is_a: MONDO:0007142 {source="OMIM:617466"} ! Townes-Brocks syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479534
property_value: exactMatch http://identifiers.org/omim/617466

[Term]
id: MONDO:0054588
name: Noonan syndrome-like disorder with loose anagen hair 2
synonym: "Noonan syndrome-like disorder with loose anagen hair 2; NSLH2" RELATED [OMIM:617506]
synonym: "NSLH2" RELATED [OMIM:617506]
xref: OMIM:617506 {source="MONDO:equivalentTo"}
is_a: MONDO:0011899 {source="OMIM:617506"} ! Noonan syndrome-like disorder with loose anagen hair
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479577
property_value: exactMatch http://identifiers.org/omim/617506

[Term]
id: MONDO:0054591
name: Stankiewicz-Isidor syndrome
synonym: "Stankiewicz-Isidor syndrome; STISS" RELATED [OMIM:617516]
synonym: "STISS" RELATED [OMIM:617516]
xref: OMIM:617516 {source="MONDO:equivalentTo"}
xref: UMLS:C4479599 {source="OMIM:617516", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
property_value: exactMatch http://identifiers.org/omim/617516
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479599

[Term]
id: MONDO:0054593
name: microcephaly 18, primary, autosomal dominant
synonym: "MCPH18" RELATED [OMIM:617520]
synonym: "microcephaly 18, primary, autosomal dominant; MCPH18" RELATED [OMIM:617520]
synonym: "primary autosomal dominant microcephaly 18" RELATED [DOID:0070295]
xref: DOID:0070295 {source="MONDO:equivalentTo"}
xref: OMIM:617520 {source="MONDO:equivalentTo"}
xref: UMLS:C4479608 {source="MONDO:equivalentTo", source="OMIM:617520"}
is_a: MONDO:0016660 {source="OMIM:617520"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070295
property_value: exactMatch http://identifiers.org/omim/617520
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479608

[Term]
id: MONDO:0054601
name: pituitary adenoma 5, multiple types
synonym: "PITA5" RELATED [OMIM:617540]
synonym: "pituitary adenoma 5, multiple types; PITA5" RELATED [OMIM:617540]
xref: OMIM:617540 {source="MONDO:equivalentTo"}
xref: UMLS:C4539685 {source="MONDO:equivalentTo", source="OMIM:617540"}
is_a: MONDO:0006373 {source="OMIM:617540"} ! pituitary gland adenoma
property_value: exactMatch http://identifiers.org/omim/617540
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539685

[Term]
id: MONDO:0054602
name: gaze palsy, familial horizontal, with progressive scoliosis, 2
synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 2; HGPPS2" RELATED [OMIM:617542]
synonym: "HGPPS2" RELATED [OMIM:617542]
xref: OMIM:617542 {source="MONDO:equivalentTo"}
xref: UMLS:C4479640 {source="MONDO:equivalentTo", source="OMIM:617542"}
is_a: MONDO:0011810 {source="OMIM:617542"} ! horizontal gaze palsy with progressive scoliosis
property_value: exactMatch http://identifiers.org/omim/617542
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479640

[Term]
id: MONDO:0054615
name: spermatogenic failure 18
synonym: "spermatogenic failure 18; SPGF18" RELATED [OMIM:617576]
synonym: "SPGF18" RELATED [OMIM:617576]
xref: DOID:0070165 {source="MONDO:equivalentTo"}
xref: OMIM:617576 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617576"} ! azoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539783
property_value: exactMatch DOID:0070165
property_value: exactMatch http://identifiers.org/omim/617576

[Term]
id: MONDO:0054636
name: Skraban-Deardorff syndrome
subset: ordo_disease
synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [OMIM:617616]
synonym: "SKDEAS" RELATED [OMIM:617616]
synonym: "Skraban-Deardorff syndrome; SKDEAS" RELATED [OMIM:617616]
xref: OMIM:617616 {source="Orphanet:513456", source="MONDO:equivalentTo"}
xref: Orphanet:513456 {source="MONDO:equivalentTo"}
xref: UMLS:C4539927 {source="MONDO:equivalentTo", source="OMIM:617616"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:513456"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: exactMatch http://identifiers.org/omim/617616
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539927
property_value: exactMatch Orphanet:513456

[Term]
id: MONDO:0054637
name: Noonan syndrome-like disorder with loose anagen hair 1
synonym: "Noonan syndrome-like disorder with loose anagen hair 1; NSLH1" RELATED [OMIM:607721]
synonym: "NSLH" BROAD [OMIM:607721]
synonym: "NSLH1" EXACT [OMIM:607721]
synonym: "Tosti syndrome" RELATED [OMIM:607721]
xref: OMIM:607721 {source="MONDO:equivalentTo"}
is_a: MONDO:0011899 {source="OMIM:607721"} ! Noonan syndrome-like disorder with loose anagen hair
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4478716
property_value: exactMatch http://identifiers.org/omim/607721

[Term]
id: MONDO:0054654
name: combined oxidative phosphorylation deficiency 32
synonym: "combined oxidative phosphorylation deficiency 32; COXPD32" RELATED [OMIM:617664]
synonym: "COXPD32" RELATED [OMIM:617664]
xref: OMIM:617664 {source="MONDO:equivalentTo"}
xref: UMLS:C4540029 {source="MONDO:equivalentTo", source="OMIM:617664"}
is_a: MONDO:0000732 {source="OMIM:617664"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/617664
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540029

[Term]
id: MONDO:0054665
name: pituitary adenoma 3, multiple types
synonym: "PITA3" RELATED [OMIM:617686]
synonym: "pituitary adenoma 3, multiple types; PITA3" RELATED [OMIM:617686]
xref: OMIM:617686 {source="MONDO:equivalentTo"}
xref: UMLS:C4540135 {source="MONDO:equivalentTo", source="OMIM:617686"}
is_a: MONDO:0006373 {source="OMIM:617686"} ! pituitary gland adenoma
property_value: exactMatch http://identifiers.org/omim/617686
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540135

[Term]
id: MONDO:0054666
name: ovarian dysgenesis 5
synonym: "ODG5" RELATED [OMIM:617690]
synonym: "ovarian dysgenesis 5; ODG5" RELATED [OMIM:617690]
xref: OMIM:617690 {source="MONDO:equivalentTo"}
xref: UMLS:C4540141 {source="MONDO:equivalentTo", source="OMIM:617690"}
is_a: MONDO:0009299 {source="OMIM:617690"} ! 46 XX gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/617690
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540141

[Term]
id: MONDO:0054669
name: pontocerebellar hypoplasia, type 11
synonym: "PCH11" RELATED [OMIM:617695]
synonym: "pontocerebellar hypoplasia, type 11; PCH11" RELATED [OMIM:617695]
xref: OMIM:617695 {source="MONDO:equivalentTo"}
is_a: MONDO:0020135 {source="OMIM:617695"} ! pontocerebellar hypoplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540164
property_value: exactMatch http://identifiers.org/omim/617695

[Term]
id: MONDO:0054677
name: combined oxidative phosphorylation deficiency 33
synonym: "combined oxidative phosphorylation deficiency 33; COXPD33" RELATED [OMIM:617713]
synonym: "COXPD33" RELATED [OMIM:617713]
xref: EFO:0009159 {source="MONDO:equivalentTo"}
xref: OMIM:617713 {source="MONDO:equivalentTo"}
xref: UMLS:C4540209 {source="OMIM:617713", source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:617713"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/617713
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540209

[Term]
id: MONDO:0054680
name: epiphyseal dysplasia, multiple, 7
synonym: "EDM7" RELATED [OMIM:617719]
synonym: "epiphyseal dysplasia, multiple, 7; EDM7" RELATED [OMIM:617719]
synonym: "multiple epiphyseal dysplasia 7" RELATED [DOID:0070302]
xref: DOID:0070302 {source="MONDO:equivalentTo"}
xref: OMIM:617719 {source="MONDO:equivalentTo"}
is_a: MONDO:0016648 {source="OMIM:617719"} ! multiple epiphyseal dysplasia (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540251
property_value: exactMatch DOID:0070302
property_value: exactMatch http://identifiers.org/omim/617719

[Term]
id: MONDO:0054691
name: immunodeficiency, common variable, 14
synonym: "CVID14" RELATED [OMIM:617765]
synonym: "immunodeficiency, COMMON variable, 14; CVID14" RELATED [OMIM:617765]
xref: OMIM:617765 {source="MONDO:equivalentTo"}
xref: UMLS:C4540380 {source="OMIM:617765", source="MONDO:equivalentTo"}
is_a: MONDO:0015517 {source="OMIM:617765"} ! common variable immunodeficiency
property_value: exactMatch http://identifiers.org/omim/617765
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540380

[Term]
id: MONDO:0054695
name: myopathy, centronuclear, 6, with fiber-type disproportion
synonym: "CNM6" RELATED [OMIM:617760]
synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion; CNM6" RELATED [OMIM:617760]
xref: OMIM:617760 {source="MONDO:equivalentTo"}
xref: UMLS:C4540345 {source="MONDO:equivalentTo", source="OMIM:617760"}
is_a: MONDO:0018947 {source="OMIM:617760"} ! centronuclear myopathy
property_value: exactMatch http://identifiers.org/omim/617760
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540345

[Term]
id: MONDO:0054696
name: immunodeficiency 53
synonym: "IMD53" RELATED [OMIM:617585]
synonym: "immunodeficiency 53; IMD53" RELATED [OMIM:617585]
xref: OMIM:617585 {source="MONDO:equivalentTo"}
xref: UMLS:C4539811 {source="MONDO:equivalentTo", source="OMIM:617585"}
is_a: MONDO:0021094 {source="OMIM:617585"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/617585
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539811

[Term]
id: MONDO:0054697
name: immunodeficiency 11b with atopic dermatitis
synonym: "atopic dermatitis, elevated IgE, and eosinophilia" RELATED [OMIM:617638]
synonym: "IMD11B" RELATED [OMIM:617638]
synonym: "immunodeficiency 11B with ATOPIC dermatitis; IMD11B" RELATED [OMIM:617638]
xref: OMIM:617638 {source="MONDO:equivalentTo"}
xref: UMLS:C4539957 {source="MONDO:equivalentTo", source="OMIM:617638"}
is_a: MONDO:0021094 {source="OMIM:617638"} ! immunodeficiency disease
property_value: exactMatch http://identifiers.org/omim/617638
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539957

[Term]
id: MONDO:0054698
name: proteasome-associated autoinflammatory syndrome 1
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [OMIM:256040]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [OMIM:256040]
synonym: "JMP syndrome" RELATED [OMIM:256040]
synonym: "joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" RELATED [OMIM:256040]
synonym: "Nakajo-Nishimura syndrome" RELATED [OMIM:256040]
synonym: "PRAAS1" EXACT [OMIM:256040]
synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" RELATED [OMIM:256040]
synonym: "proteasome-associated autoinflammatory syndrome 1; PRAAS1" RELATED [OMIM:256040]
xref: OMIM:256040 {source="MONDO:equivalentTo"}
is_a: MONDO:0009726 {source="OMIM:256040"} ! proteosome-associated autoinflammatory syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1850568
property_value: exactMatch http://identifiers.org/omim/256040

[Term]
id: MONDO:0054699
name: proteasome-associated autoinflammatory syndrome 3
synonym: "PRAAS3" RELATED [OMIM:617591]
synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [OMIM:617591]
synonym: "proteasome-associated autoinflammatory syndrome 3; PRAAS3" RELATED [OMIM:617591]
xref: OMIM:617591 {source="MONDO:equivalentTo"}
is_a: MONDO:0009726 {source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/omim/617591

[Term]
id: MONDO:0054700
name: proteasome-associated autoinflammatory syndrome 2
synonym: "PRAAS2" RELATED [OMIM:618048]
synonym: "proteasome-associated autoinflammatory syndrome 2; PRAAS2" RELATED [OMIM:618048]
xref: OMIM:618048 {source="MONDO:equivalentTo"}
xref: UMLS:CN252342 {source="MONDO:equivalentTo"}
is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome
property_value: exactMatch http://identifiers.org/omim/618048
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252342

[Term]
id: MONDO:0054701
name: Kleefstra syndrome 2
synonym: "Kleefstra syndrome 2; KLEFS2" RELATED [OMIM:617768]
synonym: "KLEFS2" RELATED [OMIM:617768]
xref: OMIM:617768 {source="MONDO:equivalentTo"}
is_a: MONDO:0012455 {source="OMIM:617768"} ! Kleefstra syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540395
property_value: exactMatch http://identifiers.org/omim/617768

[Term]
id: MONDO:0054708
name: retinitis pigmentosa 80
synonym: "RETINITIS pigmentosa 80; RP80" RELATED [OMIM:617781]
synonym: "RP80" RELATED [OMIM:617781]
xref: OMIM:617781 {source="MONDO:equivalentTo"}
is_a: MONDO:0019200 {source="OMIM:617781"} ! retinitis pigmentosa
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540439
property_value: exactMatch http://identifiers.org/omim/617781

[Term]
id: MONDO:0054716
name: microcephaly 19, primary, autosomal recessive
synonym: "MCPH19" RELATED [OMIM:617800]
synonym: "microcephaly 19, PRIMARY, autosomal recessive; MCPH19" RELATED [OMIM:617800]
synonym: "primary autosomal recessive microcephaly 19" RELATED [DOID:0070281]
xref: DOID:0070281 {source="MONDO:equivalentTo"}
xref: OMIM:617800 {source="MONDO:equivalentTo"}
xref: UMLS:C4540488 {source="OMIM:617800", source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:617800"} ! autosomal recessive primary microcephaly
property_value: exactMatch DOID:0070281
property_value: exactMatch http://identifiers.org/omim/617800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540488

[Term]
id: MONDO:0054722
name: geleophysic dysplasia 3
synonym: "GELEOPHYSIC dysplasia 3; GPHYSD3" RELATED [OMIM:617809]
synonym: "GPHYSD3" RELATED [OMIM:617809]
xref: OMIM:617809 {source="MONDO:equivalentTo"}
is_a: MONDO:0000127 {source="OMIM:617809"} ! geleophysic dysplasia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540511
property_value: exactMatch http://identifiers.org/omim/617809

[Term]
id: MONDO:0054723
name: spermatogenic failure 19
synonym: "spermatogenic failure 19; SPGF19" RELATED [OMIM:617592]
synonym: "SPGF19" RELATED [OMIM:617592]
xref: DOID:0070170 {source="MONDO:equivalentTo"}
xref: OMIM:617592 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617592"} ! azoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539818
property_value: exactMatch DOID:0070170
property_value: exactMatch http://identifiers.org/omim/617592

[Term]
id: MONDO:0054724
name: spermatogenic failure 20
synonym: "spermatogenic failure 20; SPGF20" RELATED [OMIM:617593]
synonym: "SPGF20" RELATED [OMIM:617593]
xref: DOID:0070166 {source="MONDO:equivalentTo"}
xref: OMIM:617593 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617593"} ! azoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539824
property_value: exactMatch DOID:0070166
property_value: exactMatch http://identifiers.org/omim/617593

[Term]
id: MONDO:0054725
name: spermatogenic failure 21
synonym: "spermatogenic failure 21; SPGF21" RELATED [OMIM:617644]
synonym: "SPGF21" RELATED [OMIM:617644]
xref: DOID:0070163 {source="MONDO:equivalentTo"}
xref: OMIM:617644 {source="MONDO:equivalentTo"}
xref: UMLS:C4539991 {source="OMIM:617644", source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617644"} ! azoospermia
property_value: exactMatch DOID:0070163
property_value: exactMatch http://identifiers.org/omim/617644
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539991

[Term]
id: MONDO:0054726
name: spermatogenic failure 22
synonym: "spermatogenic failure 22; SPGF22" RELATED [OMIM:617706]
synonym: "SPGF22" RELATED [OMIM:617706]
xref: DOID:0070177 {source="MONDO:equivalentTo"}
xref: OMIM:617706 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617706"} ! azoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4540179
property_value: exactMatch DOID:0070177
property_value: exactMatch http://identifiers.org/omim/617706

[Term]
id: MONDO:0054727
name: spermatogenic failure 23
synonym: "spermatogenic failure 23; SPGF23" RELATED [OMIM:617707]
synonym: "SPGF23" RELATED [OMIM:617707]
xref: DOID:0070181 {source="MONDO:equivalentTo"}
xref: OMIM:617707 {source="MONDO:equivalentTo"}
xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="OMIM:617707"}
is_a: MONDO:0004983 {source="OMIM:617707"} ! azoospermia
property_value: exactMatch DOID:0070181
property_value: exactMatch http://identifiers.org/omim/617707
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540185

[Term]
id: MONDO:0054728
name: spermatogenic failure 24
synonym: "spermatogenic failure 24; SPGF24" RELATED [OMIM:617959]
synonym: "SPGF24" RELATED [OMIM:617959]
xref: OMIM:617959 {source="MONDO:equivalentTo"}
xref: UMLS:CN244570 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617959"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/617959
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244570

[Term]
id: MONDO:0054729
name: spermatogenic failure 25
synonym: "spermatogenic failure 25; SPGF25" RELATED [OMIM:617960]
synonym: "SPGF25" RELATED [OMIM:617960]
xref: OMIM:617960 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617960"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/617960

[Term]
id: MONDO:0054730
name: spermatogenic failure 26
synonym: "spermatogenic failure 26; SPGF26" RELATED [OMIM:617961]
synonym: "SPGF26" RELATED [OMIM:617961]
xref: OMIM:617961 {source="MONDO:equivalentTo"}
xref: UMLS:CN244573 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617961"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/617961
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244573

[Term]
id: MONDO:0054731
name: spermatogenic failure 27
synonym: "spermatogenic failure 27; SPGF27" RELATED [OMIM:617965]
synonym: "SPGF27" RELATED [OMIM:617965]
xref: OMIM:617965 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:617965"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/617965

[Term]
id: MONDO:0054732
name: spermatogenic failure 28
synonym: "spermatogenic failure 28; SPGF28" RELATED [OMIM:618086]
synonym: "SPGF28" RELATED [OMIM:618086]
xref: OMIM:618086 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618086"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618086

[Term]
id: MONDO:0054733
name: spermatogenic failure 29
synonym: "spermatogenic failure 29; SPGF29" RELATED [OMIM:618091]
synonym: "SPGF29" RELATED [OMIM:618091]
xref: OMIM:618091 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:618091"} ! azoospermia
property_value: exactMatch http://identifiers.org/omim/618091

[Term]
id: MONDO:0054736
name: mosaic variegated aneuploidy syndrome 3
synonym: "MOSAIC variegated aneuploidy syndrome 3; MVA3" RELATED [OMIM:617598]
synonym: "MVA3" RELATED [OMIM:617598]
xref: OMIM:617598 {source="MONDO:equivalentTo"}
is_a: MONDO:0000141 {source="OMIM:617598"} ! mosaic variegated aneuploidy syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539839
property_value: exactMatch http://identifiers.org/omim/617598

[Term]
id: MONDO:0054737
name: Fraser syndrome 1
synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000]
synonym: "cryptophthalmos-syndactyly syndrome" RELATED [OMIM:219000]
synonym: "Fraser syndrome" RELATED [OMIM:219000]
synonym: "Fraser syndrome 1; FRASRS1" RELATED [OMIM:219000]
synonym: "FRASRS1" RELATED [OMIM:219000]
xref: OMIM:219000 {source="MONDO:equivalentTo"}
is_a: MONDO:0009046 {source="OMIM:219000"} ! Fraser syndrome
property_value: exactMatch http://identifiers.org/omim/219000

[Term]
id: MONDO:0054738
name: Fraser syndrome 2
synonym: "Fraser syndrome 2; FRASRS2" RELATED [OMIM:617666]
synonym: "FRASRS2" RELATED [OMIM:617666]
xref: OMIM:617666 {source="MONDO:equivalentTo"}
xref: UMLS:C4540036 {source="OMIM:617666", source="MONDO:equivalentTo"}
is_a: MONDO:0009046 {source="OMIM:617666"} ! Fraser syndrome
property_value: exactMatch http://identifiers.org/omim/617666
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540036

[Term]
id: MONDO:0054739
name: Fraser syndrome 3
synonym: "Fraser syndrome 3; FRASRS3" RELATED [OMIM:617667]
synonym: "FRASRS3" RELATED [OMIM:617667]
xref: OMIM:617667 {source="MONDO:equivalentTo"}
xref: UMLS:C4540040 {source="OMIM:617667", source="MONDO:equivalentTo"}
is_a: MONDO:0009046 {source="OMIM:617667"} ! Fraser syndrome
property_value: exactMatch http://identifiers.org/omim/617667
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540040

[Term]
id: MONDO:0054740
name: blepharocheilodontic syndrome 1
def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "BCD syndrome" RELATED [OMIM:119580]
synonym: "BCDS1" RELATED [OMIM:119580]
synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CDH1" EXACT []
synonym: "blepharocheilodontic syndrome" RELATED [OMIM:119580]
synonym: "blepharocheilodontic syndrome 1; BCDS1" RELATED [OMIM:119580]
synonym: "CDH1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "clefting, ectropion, and conical teeth" RELATED [OMIM:119580]
synonym: "ectropion, Inferior, with cleft 51P and/Or palate" RELATED [OMIM:119580]
synonym: "elschnig syndrome" RELATED [OMIM:119580]
synonym: "Lagophthalmia with bilateral cleft 51P and palate" RELATED [OMIM:119580]
xref: DOID:0080345 {source="MONDO:equivalentTo"}
xref: OMIM:119580 {source="DOID:0080345", source="MONDO:equivalentTo"}
is_a: MONDO:0007339 {source="DOID:0080345", source="OMIM:119580"} ! blepharo-cheilo-odontic syndrome
property_value: exactMatch DOID:0080345
property_value: exactMatch http://identifiers.org/omim/119580

[Term]
id: MONDO:0054741
name: combined oxidative phosphorylation deficiency 34
synonym: "combined oxidative phosphorylation deficiency 34; COXPD34" RELATED [OMIM:617872]
synonym: "COXPD34" RELATED [OMIM:617872]
xref: OMIM:617872 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:617872"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/617872

[Term]
id: MONDO:0054742
name: combined oxidative phosphorylation deficiency 35
synonym: "combined oxidative phosphorylation deficiency 35; COXPD35" RELATED [OMIM:617873]
synonym: "COXPD35" RELATED [OMIM:617873]
xref: OMIM:617873 {source="MONDO:equivalentTo"}
xref: UMLS:CN807948 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:617873"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/617873
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN807948

[Term]
id: MONDO:0054743
name: polycystic liver disease 3 with or without kidney cysts
synonym: "PCLD3" RELATED [OMIM:617874]
synonym: "polycystic liver disease 3 with or without kidney cysts; PCLD3" RELATED [OMIM:617874]
xref: OMIM:617874 {source="MONDO:equivalentTo"}
xref: UMLS:CN818986 {source="MONDO:equivalentTo"}
is_a: MONDO:0000447 {source="OMIM:617874"} ! autosomal dominant polycystic liver disease
property_value: exactMatch http://identifiers.org/omim/617874
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN818986

[Term]
id: MONDO:0054748
name: Fanconi anemia, complementation group S
synonym: "Fanconi anemia, complementation GROUP S; FANCS" RELATED [OMIM:617883]
synonym: "FANCS" RELATED [OMIM:617883]
xref: OMIM:617883 {source="MONDO:equivalentTo"}
is_a: MONDO:0019391 {source="OMIM:617883"} ! Fanconi anemia
property_value: exactMatch http://identifiers.org/omim/617883

[Term]
id: MONDO:0054749
name: obsolete body mass index quantitative trait locus 19
synonym: "BMIQ19" RELATED [OMIM:617885]
synonym: "body MASS index quantitative trait locus 19; BMIQ19" RELATED [OMIM:617885]
synonym: "obesity, Susceptibility to" RELATED [OMIM:617885]
xref: OMIM:617885 {source="MONDO:obsoleteEquivalent"}
property_value: exactMatch http://identifiers.org/omim/617885
is_obsolete: true

[Term]
id: MONDO:0054750
name: amyotrophic lateral sclerosis, susceptibility to, 24
subset: predisposition
synonym: "ALS24" RELATED [OMIM:617892]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 24; ALS24" RELATED [OMIM:617892]
xref: OMIM:617892 {source="MONDO:equivalentTo"}
xref: UMLS:CN842244 {source="MONDO:equivalentTo"}
is_a: MONDO:0004976 {source="OMIM:617892"} ! amyotrophic lateral sclerosis
property_value: exactMatch http://identifiers.org/omim/617892
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN842244

[Term]
id: MONDO:0054752
name: multiple synostoses syndrome 4
synonym: "multiple synostoses syndrome 4; SYNS4" RELATED [OMIM:617898]
synonym: "SYNS4" RELATED [OMIM:617898]
xref: OMIM:617898 {source="MONDO:equivalentTo"}
xref: UMLS:CN842246 {source="MONDO:equivalentTo"}
is_a: MONDO:0017923 {source="OMIM:617898"} ! multiple synostoses syndrome
property_value: exactMatch http://identifiers.org/omim/617898
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN842246

[Term]
id: MONDO:0054754
name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
subset: predisposition
synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8; IIAE8" RELATED [OMIM:617900]
synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [OMIM:617900]
synonym: "IIAE8" RELATED [OMIM:617900]
xref: OMIM:617900 {source="MONDO:equivalentTo"}
xref: UMLS:CN865669 {source="MONDO:equivalentTo"}
is_a: MONDO:0000166 {source="OMIM:617900"} ! encephalopathy, acute, infection-induced
property_value: exactMatch http://identifiers.org/omim/617900
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN865669

[Term]
id: MONDO:0054761
name: microcephaly 20, primary, autosomal recessive
synonym: "MCPH20" RELATED [OMIM:617914]
synonym: "microcephaly 20, PRIMARY, autosomal recessive; MCPH20" RELATED [OMIM:617914]
xref: OMIM:617914 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:617914"} ! autosomal recessive primary microcephaly
property_value: exactMatch http://identifiers.org/omim/617914

[Term]
id: MONDO:0054763
name: neurodegeneration with brain iron accumulation 7
synonym: "NBIA7" RELATED [OMIM:617916]
synonym: "neurodegeneration with brain iron accumulation 7; NBIA7" RELATED [OMIM:617916]
xref: OMIM:617916 {source="MONDO:equivalentTo"}
xref: UMLS:CN895590 {source="MONDO:equivalentTo"}
is_a: MONDO:0018307 {source="OMIM:617916"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch http://identifiers.org/omim/617916
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895590

[Term]
id: MONDO:0054764
name: neurodegeneration with brain iron accumulation 8
synonym: "NBIA8" RELATED [OMIM:617917]
synonym: "neurodegeneration with brain iron accumulation 8; NBIA8" RELATED [OMIM:617917]
xref: OMIM:617917 {source="MONDO:equivalentTo"}
xref: UMLS:CN895591 {source="MONDO:equivalentTo"}
is_a: MONDO:0018307 {source="OMIM:617917"} ! neurodegeneration with brain iron accumulation
property_value: exactMatch http://identifiers.org/omim/617917
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895591

[Term]
id: MONDO:0054765
name: amyloidosis, primary localized cutaneous, 3
synonym: "amyloidosis cutis dyschromica" RELATED [OMIM:617920]
synonym: "amyloidosis, PRIMARY LOCALIZED cutaneous, 3; PLCA3" RELATED [OMIM:617920]
synonym: "PLCA3" RELATED [OMIM:617920]
xref: OMIM:617920 {source="MONDO:equivalentTo"}
is_a: MONDO:0015301 {source="OMIM:617920"} ! primary cutaneous amyloidosis
property_value: exactMatch http://identifiers.org/omim/617920

[Term]
id: MONDO:0054770
name: orofaciodigital syndrome 18
synonym: "OFD18" RELATED [OMIM:617927]
synonym: "Ofds 18" RELATED [OMIM:617927]
synonym: "oral-Facial-digital syndrome, type 18" RELATED [OMIM:617927]
synonym: "orofaciodigital syndrome XVIII; OFD18" RELATED [OMIM:617927]
xref: OMIM:617927 {source="MONDO:equivalentTo"}
xref: UMLS:CN244546 {source="MONDO:equivalentTo"}
is_a: MONDO:0015375 ! orofaciodigital syndrome
property_value: exactMatch http://identifiers.org/omim/617927
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244546

[Term]
id: MONDO:0054771
name: keratoconus 9
synonym: "keratoconus 9; KTCN9" RELATED [OMIM:617928]
synonym: "KTCN9" RELATED [OMIM:617928]
xref: OMIM:617928 {source="MONDO:equivalentTo"}
xref: UMLS:CN244547 {source="MONDO:equivalentTo"}
is_a: MONDO:0015486 {source="OMIM:617928"} ! keratoconus (disease)
property_value: exactMatch http://identifiers.org/omim/617928
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244547

[Term]
id: MONDO:0054776
name: epilepsy, familial focal, with variable foci 4
synonym: "epilepsy, FAMILIAL focal, with variable foci 4; FFEVF4" RELATED [OMIM:617935]
synonym: "FFEVF4" RELATED [OMIM:617935]
xref: OMIM:617935 {source="MONDO:equivalentTo"}
xref: UMLS:CN244552 {source="MONDO:equivalentTo"}
is_a: MONDO:0020310 {source="OMIM:617935"} ! familial focal epilepsy with variable foci
property_value: exactMatch http://identifiers.org/omim/617935
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244552

[Term]
id: MONDO:0054780
name: elliptocytosis 3
synonym: "anemia, perinatal hemolytic, fatal or near-fatal" RELATED [OMIM:617948]
synonym: "EL3" RELATED [OMIM:617948]
synonym: "elliptocytosis 3; EL3" RELATED [OMIM:617948]
xref: MESH:C566678 {source="MONDO:equivalentTo"}
xref: OMIM:617948 {source="MONDO:equivalentTo"}
is_a: MONDO:0017319 ! hereditary elliptocytosis
property_value: exactMatch http://identifiers.org/mesh/C566678
property_value: exactMatch http://identifiers.org/omim/617948

[Term]
id: MONDO:0054781
name: combined oxidative phosphorylation deficiency 36
synonym: "combined oxidative phosphorylation deficiency 36; COXPD36" RELATED [OMIM:617950]
synonym: "COXPD36" RELATED [OMIM:617950]
xref: OMIM:617950 {source="MONDO:equivalentTo"}
xref: UMLS:CN244569 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:617950"} ! combined oxidative phosphorylation deficiency
property_value: exactMatch http://identifiers.org/omim/617950
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244569

[Term]
id: MONDO:0054782
name: leukodystrophy, hypomyelinating, 15
synonym: "HLD15" RELATED [OMIM:617951]
synonym: "leukodystrophy, hypomyelinating, 15; HLD15" RELATED [OMIM:617951]
xref: OMIM:617951 {source="MONDO:equivalentTo"}
xref: UMLS:CN244566 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="OMIM:617951"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/617951
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244566

[Term]
id: MONDO:0054785
name: multiple mitochondrial dysfunctions syndrome 6
synonym: "MMDS6" RELATED [OMIM:617954]
synonym: "multiple MITOCHONDRIAL dysfunctions syndrome 6; MMDS6" RELATED [OMIM:617954]
xref: OMIM:617954 {source="MONDO:equivalentTo"}
xref: UMLS:CN244567 {source="MONDO:equivalentTo"}
is_a: MONDO:0017338 {source="OMIM:617954"} ! fatal multiple mitochondrial dysfunctions syndrome
property_value: exactMatch http://identifiers.org/omim/617954
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244567

[Term]
id: MONDO:0054791
name: leukodystrophy, hypomyelinating, 16
synonym: "HLD16" RELATED [OMIM:617964]
synonym: "leukodystrophy, hypomyelinating, 16; HLD16" RELATED [OMIM:617964]
xref: OMIM:617964 {source="MONDO:equivalentTo"}
xref: UMLS:CN244907 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="OMIM:617964"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/617964
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244907

[Term]
id: MONDO:0054794
name: hydrocephalus, congenital, 3, with brain anomalies
synonym: "HYC3" RELATED [OMIM:617967]
synonym: "hydrocephalus, CONGENITAL, 3, with brain anomalies; HYC3" RELATED [OMIM:617967]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3" RELATED [OMIM:617967]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED [OMIM:617967]
xref: OMIM:617967 {source="MONDO:equivalentTo"}
is_a: MONDO:0016349 ! congenital hydrocephalus
property_value: exactMatch http://identifiers.org/omim/617967

[Term]
id: MONDO:0054801
name: erythrocytosis, familial, 6
synonym: "ECYT6" RELATED [OMIM:617980]
synonym: "erythrocytosis, Beta-globin type" RELATED [OMIM:617980]
synonym: "erythrocytosis, FAMILIAL, 6; ECYT6" RELATED [OMIM:617980]
synonym: "polycythemia, Beta-globin type" RELATED [OMIM:617980]
xref: OMIM:617980 {source="MONDO:equivalentTo"}
xref: UMLS:CN244941 {source="MONDO:equivalentTo"}
is_a: MONDO:0001115 ! familial polycythemia
property_value: exactMatch http://identifiers.org/omim/617980
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244941

[Term]
id: MONDO:0054802
name: erythrocytosis, familial, 7
synonym: "ECYT7" RELATED [OMIM:617981]
synonym: "erythrocytosis, Alpha-globin type" RELATED [OMIM:617981]
synonym: "erythrocytosis, FAMILIAL, 7; ECYT7" RELATED [OMIM:617981]
synonym: "polycythemia, Alpha-globin type" RELATED [OMIM:617981]
xref: OMIM:617981 {source="MONDO:equivalentTo"}
xref: UMLS:CN244942 {source="MONDO:equivalentTo"}
is_a: MONDO:0001115 ! familial polycythemia
property_value: exactMatch http://identifiers.org/omim/617981
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244942

[Term]
id: MONDO:0054804
name: microcephaly 21, primary, autosomal recessive
synonym: "MCPH21" RELATED [OMIM:617983]
synonym: "microcephaly 21, PRIMARY, autosomal recessive; MCPH21" RELATED [OMIM:617983]
xref: OMIM:617983 {source="MONDO:equivalentTo"}
xref: UMLS:CN244930 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:617983"} ! autosomal recessive primary microcephaly
property_value: exactMatch http://identifiers.org/omim/617983
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244930

[Term]
id: MONDO:0054805
name: microcephaly 22, primary, autosomal recessive
synonym: "MCPH22" RELATED [OMIM:617984]
synonym: "microcephaly 22, PRIMARY, autosomal recessive; MCPH22" RELATED [OMIM:617984]
xref: OMIM:617984 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:617984"} ! autosomal recessive primary microcephaly
property_value: exactMatch http://identifiers.org/omim/617984

[Term]
id: MONDO:0054806
name: microcephaly 23, primary, autosomal recessive
synonym: "MCPH23" RELATED [OMIM:617985]
synonym: "microcephaly 23, PRIMARY, autosomal recessive; MCPH23" RELATED [OMIM:617985]
xref: OMIM:617985 {source="MONDO:equivalentTo"}
xref: UMLS:CN244932 {source="MONDO:equivalentTo"}
is_a: MONDO:0016660 {source="OMIM:617985"} ! autosomal recessive primary microcephaly
property_value: exactMatch http://identifiers.org/omim/617985
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244932

[Term]
id: MONDO:0054813
name: ehlers-danlos syndrome, classic-like, 2
subset: ordo_disease
synonym: "EDSCLL2" RELATED [OMIM:618000]
synonym: "Ehlers-Danlos syndrome, classic-like, 2; EDSCLL2" RELATED [OMIM:618000]
xref: OMIM:618000 {source="MONDO:equivalentTo", source="Orphanet:536532"}
xref: Orphanet:536532 {source="MONDO:equivalentTo"}
xref: UMLS:CN248508 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019704 {source="Orphanet:536532"} ! primary bone dysplasia with decreased bone density
is_a: MONDO:0020066 {source="OMIM:618000", source="Orphanet:536532"} ! Ehlers-Danlos syndrome
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/618000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248508
property_value: exactMatch Orphanet:536532

[Term]
id: MONDO:0054817
name: leukodystrophy, hypomyelinating, 17
synonym: "HLD17" RELATED [OMIM:618006]
synonym: "leukodystrophy, hypomyelinating, 17; HLD17" RELATED [OMIM:618006]
xref: OMIM:618006 {source="MONDO:equivalentTo"}
xref: UMLS:CN248514 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="OMIM:618006"} ! leukodystrophy
property_value: exactMatch http://identifiers.org/omim/618006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248514

[Term]
id: MONDO:0054831
name: Coffin-Siris syndrome 7
synonym: "COFFIN-SIRIS syndrome 7; CSS7" RELATED [OMIM:618027]
synonym: "CSS7" RELATED [OMIM:618027]
xref: OMIM:618027 {source="MONDO:equivalentTo"}
xref: UMLS:CN248780 {source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="OMIM:618027"} ! Coffin-Siris syndrome
property_value: exactMatch http://identifiers.org/omim/618027
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248780

[Term]
id: MONDO:0054832
name: corneal dystrophy, posterior polymorphous, 4
synonym: "corneal dystrophy, POSTERIOR polymorphous, 4; PPCD4" RELATED [OMIM:618031]
synonym: "PPCD4" RELATED [OMIM:618031]
xref: OMIM:618031 {source="MONDO:equivalentTo"}
xref: UMLS:CN248531 {source="MONDO:equivalentTo"}
is_a: MONDO:0020364 {source="OMIM:618031"} ! posterior polymorphous corneal dystrophy
property_value: exactMatch http://identifiers.org/omim/618031
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248531

[Term]
id: MONDO:0054833
name: charcot-marie-tooth disease, axonal, type 2DD
subset: ordo_disease
synonym: "Charcot-Marie-tooth disease, axonal, type 2DD; CMT2DD" RELATED [OMIM:618036]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [OMIM:618036]
synonym: "CMT2DD" RELATED [OMIM:618036]
xref: OMIM:618036 {source="Orphanet:521414", source="MONDO:equivalentTo"}
xref: Orphanet:521414 {source="MONDO:equivalentTo"}
xref: UMLS:CN248781 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0018993 {source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2
property_value: exactMatch http://identifiers.org/omim/618036
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248781
property_value: exactMatch Orphanet:521414

[Term]
id: MONDO:0054835
name: parkinsonism-dystonia, infantile, 1
synonym: "dopamine transporter deficiency syndrome" RELATED [OMIM:613135]
synonym: "Parkinsonism-dystonia, infantile, 1; PKDYS1" EXACT [OMIM:613135]
synonym: "PKDYS" BROAD [OMIM:613135]
synonym: "PKDYS1" EXACT [OMIM:613135]
xref: OMIM:613135 {source="MONDO:equivalentTo"}
is_a: MONDO:0013150 {source="OMIM:613135"} ! infantile dystonia-parkinsonism
property_value: exactMatch http://identifiers.org/omim/613135

[Term]
id: MONDO:0054836
name: parkinsonism-dystonia, infantile, 2
synonym: "Parkinsonism-dystonia, infantile, 2; PKDYS2" RELATED [OMIM:618049]
synonym: "PKDYS2" RELATED [OMIM:618049]
xref: OMIM:618049 {source="MONDO:equivalentTo"}
xref: UMLS:CN248785 {source="MONDO:equivalentTo"}
is_a: MONDO:0013150 {source="OMIM:618049"} ! infantile dystonia-parkinsonism
property_value: exactMatch http://identifiers.org/omim/618049
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248785

[Term]
id: MONDO:0054837
name: mental retardation, autosomal dominant 57
synonym: "mental retardation, autosomal dominant 57; MRD57" RELATED [OMIM:618050]
synonym: "MRD57" RELATED [OMIM:618050]
xref: OMIM:618050 {source="MONDO:equivalentTo"}
xref: UMLS:CN252334 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="OMIM:618050"} ! autosomal dominant non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618050
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252334

[Term]
id: MONDO:0054838
name: cardiomyopathy, familial hypertrophic 27
synonym: "cardiomyopathy, FAMILIAL hypertrophic 27; CMH27" RELATED [OMIM:618052]
synonym: "CMH27" RELATED [OMIM:618052]
xref: OMIM:618052 {source="MONDO:equivalentTo"}
xref: UMLS:CN252335 {source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="OMIM:618052"} ! familial hypertrophic cardiomyopathy
property_value: exactMatch http://identifiers.org/omim/618052
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252335

[Term]
id: MONDO:0054842
name: polycystic kidney disease 6 with or without polycystic liver disease
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DNAJB11 polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PKD6" RELATED [OMIM:618061]
synonym: "polycystic kidney disease 6 with or without polycystic liver disease; PKD6" RELATED [OMIM:618061]
synonym: "polycystic kidney disease caused by mutation in DNAJB11" EXACT []
xref: OMIM:618061 {source="MONDO:equivalentTo"}
xref: UMLS:CN252647 {source="MONDO:equivalentTo"}
is_a: MONDO:0004691 {source="OMIM:618061"} ! autosomal dominant polycystic kidney disease
property_value: exactMatch http://identifiers.org/omim/618061
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252647

[Term]
id: MONDO:0054843
name: ciliary dyskinesia, primary, 38
synonym: "CILD38" RELATED [OMIM:618063]
synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [OMIM:618063]
synonym: "ciliary dyskinesia, PRIMARY, 38; CILD38" RELATED [OMIM:618063]
xref: OMIM:618063 {source="MONDO:equivalentTo"}
xref: UMLS:CN252651 {source="MONDO:equivalentTo"}
is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia
property_value: exactMatch http://identifiers.org/omim/618063
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252651

[Term]
id: MONDO:0054844
name: pontocerebellar hypoplasia, type 1d
synonym: "PCH1D" RELATED [OMIM:618065]
synonym: "pontocerebellar hypoplasia, type 1D; PCH1D" RELATED [OMIM:618065]
xref: OMIM:618065 {source="MONDO:equivalentTo"}
xref: UMLS:CN252648 {source="MONDO:equivalentTo"}
is_a: MONDO:0020135 {source="OMIM:618065"} ! pontocerebellar hypoplasia
property_value: exactMatch http://identifiers.org/omim/618065
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252648

[Term]
id: MONDO:0054845
name: epileptic encephalopathy, early infantile, 66
synonym: "EIEE66" RELATED [OMIM:618067]
synonym: "epileptic encephalopathy, early infantile, 66; EIEE66" RELATED [OMIM:618067]
xref: OMIM:618067 {source="MONDO:equivalentTo"}
xref: UMLS:CN252658 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 {source="OMIM:618067"} ! early infantile epileptic encephalopathy
property_value: exactMatch http://identifiers.org/omim/618067
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252658

[Term]
id: MONDO:0054846
name: epilepsy, familial adult myoclonic, 6
synonym: "benign Adult Familial myoclonic epilepsy 6" RELATED [OMIM:618074]
synonym: "cortical myoclonic tremor with epilepsy, Familial, 6" RELATED [OMIM:618074]
synonym: "epilepsy, FAMILIAL ADULT myoclonic, 6; FAME6" RELATED [OMIM:618074]
synonym: "FAME6" RELATED [OMIM:618074]
xref: OMIM:618074 {source="MONDO:equivalentTo"}
xref: UMLS:CN252655 {source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="OMIM:618074"} ! epilepsy, familial adult myoclonic
property_value: exactMatch http://identifiers.org/omim/618074
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252655

[Term]
id: MONDO:0054847
name: epilepsy, familial adult myoclonic, 7
synonym: "benign Adult Familial myoclonic epilepsy 7" RELATED [OMIM:618075]
synonym: "cortical myoclonic tremor with epilepsy, Familial, 7" RELATED [OMIM:618075]
synonym: "epilepsy, FAMILIAL ADULT myoclonic, 7; FAME7" RELATED [OMIM:618075]
synonym: "FAME7" RELATED [OMIM:618075]
xref: OMIM:618075 {source="MONDO:equivalentTo"}
xref: UMLS:CN252654 {source="MONDO:equivalentTo"}
is_a: MONDO:0000160 {source="OMIM:618075"} ! epilepsy, familial adult myoclonic
property_value: exactMatch http://identifiers.org/omim/618075
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252654

[Term]
id: MONDO:0054849
name: inflammatory bowel disease 29
synonym: "IBD29" RELATED [OMIM:618077]
synonym: "inflammatory bowel disease 29; IBD29" RELATED [OMIM:618077]
xref: OMIM:618077 {source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="OMIM:618077"} ! inflammatory bowel disease
property_value: exactMatch http://identifiers.org/omim/618077

[Term]
id: MONDO:0054850
name: ovarian dysgenesis 6
synonym: "ODG6" RELATED [OMIM:618078]
synonym: "ovarian dysgenesis 6; ODG6" RELATED [OMIM:618078]
xref: OMIM:618078 {source="MONDO:equivalentTo"}
is_a: MONDO:0009299 {source="MONDOLEX:0024463"} ! 46 XX gonadal dysgenesis
property_value: exactMatch http://identifiers.org/omim/618078

[Term]
id: MONDO:0054852
name: peeling skin syndrome 6
synonym: "peeling skin syndrome 6; PSS6" RELATED [OMIM:618084]
synonym: "PSS6" RELATED [OMIM:618084]
xref: OMIM:618084 {source="MONDO:equivalentTo"}
is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome
property_value: exactMatch http://identifiers.org/omim/618084

[Term]
id: MONDO:0054860
name: deafness, autosomal recessive 110
synonym: "deafness, autosomal recessive 110; DFNB110" RELATED [OMIM:618094]
synonym: "DFNB110" RELATED [OMIM:618094]
xref: OMIM:618094 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:618094"} ! autosomal recessive nonsyndromic deafness
property_value: exactMatch http://identifiers.org/omim/618094

[Term]
id: MONDO:0054861
name: intellectual disability, autosomal recessive 63
synonym: "mental retardation, autosomal recessive 63; MRT63" RELATED [OMIM:618095]
synonym: "MRT63" RELATED [OMIM:618095]
xref: OMIM:618095 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
property_value: exactMatch http://identifiers.org/omim/618095

[Term]
id: MONDO:0054862
name: premature ovarian failure 15
synonym: "POF15" RELATED [OMIM:618096]
synonym: "premature ovarian failure 15; POF15" RELATED [OMIM:618096]
xref: OMIM:618096 {source="MONDO:equivalentTo"}
is_a: MONDO:0005387 {source="OMIM:618096"} ! primary ovarian failure
property_value: exactMatch http://identifiers.org/omim/618096

[Term]
id: MONDO:0054865
name: encephalopathy due to mitochondrial and peroxisomal fission defect
subset: ordo_disease
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [OMIMPS:614388]
xref: OMIMPS:614388 {source="MONDO:equivalentTo"}
xref: Orphanet:527276 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016133 {source="Orphanet:527276"} ! rare hereditary metabolic disease with peripheral neuropathy
is_a: MONDO:0016799 ! mitochondrial oxidative phosphorylation disorder with no known mechanism
is_a: MONDO:0019058 {source="Orphanet:527276"} ! neurometabolic disease
property_value: exactMatch Orphanet:527276

[Term]
id: MONDO:0054866
name: sudden arrhythmia death syndrome
subset: gard_rare
synonym: "SADS" RELATED [GARD:0009434]
synonym: "sudden arrhythmic death syndrome" EXACT [GARD:0009434, UMLS:C2721586]
synonym: "sudden cardiac death due to cardiac arrhythmia" RELATED [UMLS:C2721586]
xref: GARD:0009434 {source="MONDO:equivalentTo"}
xref: SCTID:735686002 {source="MONDO:equivalentTo", source="UMLS:C2721586"}
xref: UMLS:C2721586 {source="MONDO:equivalentTo", source="GARD:0009434"}
is_a: MONDO:0007264 {source="linkedlife"} ! sudden cardiac arrest
property_value: exactMatch http://identifiers.org/snomedct/735686002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2721586

[Term]
id: MONDO:0054867
name: paraomphalocele
synonym: "Paraomphalocele, epigastric" RELATED [MESH:C537170]
synonym: "Paraomphalocele, hypogastric" RELATED [MESH:C537170]
xref: MESH:C537170 {source="MONDO:equivalentTo"}
is_a: MONDO:0009264 {source="MESH:C537170"} ! gastroschisis
property_value: exactMatch http://identifiers.org/mesh/C537170

[Term]
id: MONDO:0054868
name: meconium ileus
def: "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine." [NCIT:C98979]
synonym: "meconium ileus" EXACT [NCIT:C98979]
xref: NCIT:C98979 {source="MONDO:equivalentTo"}
xref: SCTID:206523001 {source="MONDO:kboom-pr-1.00/0.77/7.30", source="MONDO:equivalentTo"}
is_a: MONDO:0004567 {source="NCIT:C98979"} ! ileus
property_value: exactMatch http://identifiers.org/snomedct/206523001
property_value: exactMatch NCIT:C98979

[Term]
id: MONDO:0054869
name: nondystrophic myotonia
subset: gard_rare
synonym: "NDM" RELATED [GARD:0009852]
xref: GARD:0009852 {source="MONDO:equivalentTo"}
xref: MESH:C536245 {source="MONDO:equivalentTo"}
is_a: MONDO:0016120 ! myotonic syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C2931139
property_value: exactMatch http://identifiers.org/mesh/C536245

[Term]
id: MONDO:0056795
name: X-linked spermatogenic failure 1
synonym: "Del Castillo syndrome" RELATED [OMIM:305700]
synonym: "Germinal cell aplasia" RELATED [OMIM:305700]
synonym: "Sertoli cell-only syndrome" RELATED [OMIM:305700]
synonym: "spermatogenic failure, X-linked, 1" RELATED [MONDO:Lexical, OMIM:305700]
synonym: "spermatogenic failure, X-linked, 1; SPGFX1" RELATED [OMIM:305700]
synonym: "spermatogenic failure, X-linked, type 1" EXACT [MONDORULE:1, OMIM:305700]
synonym: "SPGFX1" EXACT [DOID:0070189, MONDO:Lexical, OMIM:305700]
xref: DOID:0070189 {source="MONDO:equivalentTo"}
xref: OMIM:305700 {source="DOID:0070189", source="MONDO:equivalentTo", source="DOID:0050457"}
is_a: MONDO:0004983 {source="OMIM:305700"} ! azoospermia
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1384583
property_value: exactMatch DOID:0070189
property_value: exactMatch http://identifiers.org/omim/305700

[Term]
id: MONDO:0056796
name: obstructive nephropathy
def: "Renal damage and impaired renal function secondary to urinary tract obstruction." []
synonym: "congenital obstructive nephropathy" EXACT [DOID:0070314]
synonym: "obstructive nephropathy" EXACT []
xref: DOID:0070314 {source="MONDO:equivalentTo"}
xref: ICD9:593.89 {source="linkedlife"}
xref: NCIT:C120902 {source="MONDO:equivalentTo"}
xref: SCTID:86249007 {source="MONDO:equivalentTo", source="DOID:0070314"}
xref: UMLS:C0149939 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:0070314", source="linkedlife"} ! kidney disease
property_value: exactMatch DOID:0070314
property_value: exactMatch http://identifiers.org/snomedct/86249007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0149939
property_value: exactMatch NCIT:C120902

[Term]
id: MONDO:0056797
name: neurodevelopmental disorder with midbrain and hindbrain malformations
synonym: "NEDMHM" EXACT [DOID:0080312, OMIM:617523]
synonym: "neurodevelopmental disorder with midbrain and hindbrain malformations; NEDMHM" RELATED [OMIM:617523]
xref: DOID:0080312 {source="MONDO:equivalentTo"}
xref: OMIM:617523 {source="DOID:0080312", source="MONDO:equivalentTo"}
xref: UMLS:C4479613 {source="OMIM:617523", source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="DOID:0080312"} ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch DOID:0080312
property_value: exactMatch http://identifiers.org/omim/617523
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479613

[Term]
id: MONDO:0056798
name: disorder of appendix
def: "A disease or disorder that involves the vermiform appendix." [MONDO:patterns/location]
synonym: "appendiceal disease" EXACT []
synonym: "appendix disease" EXACT []
synonym: "disease of appendix" EXACT []
synonym: "disease of vermiform appendix" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vermiform appendix" EXACT []
synonym: "disorder of appendix" EXACT []
synonym: "disorder of vermiform appendix" EXACT [MONDO:patterns/location_top]
synonym: "vermiform appendix disease" EXACT []
synonym: "vermiform appendix disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:60000 {source="MONDO:equivalentTo"}
xref: ICD9:543.9 {source="linkedlife"}
xref: SCTID:18526009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267613 {source="MONDO:equivalentTo"}
is_a: MONDO:0002031 ! cecal disease
property_value: exactMatch DOID:60000
property_value: exactMatch http://identifiers.org/snomedct/18526009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267613

[Term]
id: MONDO:0056799
name: synovium disease
def: "A disease or disorder that involves the layer of synovial tissue." [MONDO:patterns/location]
synonym: "disease of layer of synovial tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of layer of synovial tissue" EXACT []
synonym: "disorder of layer of synovial tissue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of synovium" EXACT []
synonym: "layer of synovial tissue disease" EXACT []
synonym: "layer of synovial tissue disease or disorder" EXACT [MONDO:patterns/location]
xref: ICD9:727.89 {source="linkedlife"}
xref: ICD9:727.9 {source="linkedlife"}
xref: SCTID:3519007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263945 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="linkedlife"} ! musculoskeletal system disease
property_value: exactMatch http://identifiers.org/snomedct/3519007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263945

[Term]
id: MONDO:0056802
name: synovial bursa disease
def: "A disease or disorder that involves the synovial bursa." [MONDO:patterns/location]
synonym: "disease of synovial bursa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of synovial bursa" EXACT []
synonym: "disorder of bursa" EXACT []
synonym: "disorder of synovial bursa" EXACT [MONDO:patterns/location_top]
synonym: "synovial bursa disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:10597006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263946 {source="MONDO:equivalentTo"}
is_a: MONDO:0056799 {source="linkedlife"} ! synovium disease
property_value: exactMatch http://identifiers.org/snomedct/10597006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0263946

[Term]
id: MONDO:0056803
name: sulfur metabolism disease
def: "A disease that has its basis in the disruption of sulfur compound metabolic process." [MONDO:patterns/disrupts_process]
synonym: "disorder of sulfur compound metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sulfur metabolic process" EXACT []
synonym: "disorder of sulfur metabolism" EXACT []
synonym: "disorder of sulphur metabolism" EXACT []
synonym: "sulfur compound metabolic process disease" EXACT []
xref: SCTID:123809005 {source="MONDO:equivalentTo"}
xref: UMLS:C1263724 {source="MONDO:equivalentTo"}
is_a: MONDO:0000226 ! mineral metabolism disease
property_value: exactMatch http://identifiers.org/snomedct/123809005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1263724

[Term]
id: MONDO:0056804
name: benign neoplasm of peripheral nervous system
xref: DOID:0080320 {source="MONDO:equivalentTo"}
is_a: MONDO:0000628 {source="DOID:0080320"} ! central nervous system organ benign neoplasm
is_a: MONDO:0001406 ! peripheral nervous system neoplasm
property_value: exactMatch DOID:0080320

[Term]
id: MONDO:0056805
name: benign peripheral nerve granular cell tumor
def: "A benign granular cell tumor that involves the nerve." [MONDO:patterns/location]
synonym: "benign granular cell neoplasm of peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell neoplasm of the peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell tumor of nerve" EXACT []
synonym: "benign granular cell tumor of peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell tumor of the peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign peripheral nerve granular cell neoplasm" EXACT [NCIT:C5502]
synonym: "benign peripheral nerve granular cell tumor" EXACT [NCIT:C5502]
synonym: "nerve benign granular cell tumor" EXACT [MONDO:patterns/location]
xref: NCIT:C5502 {source="MONDO:equivalentTo"}
xref: UMLS:C1332530 {source="MONDO:equivalentTo"}
is_a: MONDO:0003250 {source="NCIT:C5502"} ! benign granular cell tumor
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1332530
property_value: exactMatch NCIT:C5502

[Term]
id: MONDO:0056806
name: non-small cell squamous lung carcinoma
def: "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." [NCIT:C133254]
synonym: "non-small cell squamous lung cancer" EXACT [NCIT:C133254]
synonym: "non-small cell squamous lung carcinoma" EXACT [NCIT:C133254]
synonym: "squamous non-small cell lung carcinoma" EXACT [NCIT:C133254]
xref: NCIT:C133254 {source="MONDO:equivalentTo"}
xref: SCTID:723301009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma
is_a: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma (disease)
intersection_of: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma
intersection_of: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma (disease)
property_value: exactMatch http://identifiers.org/snomedct/723301009
property_value: exactMatch NCIT:C133254

[Term]
id: MONDO:0056813
name: hormone-resistant breast carcinoma
def: "Breast carcinoma that does not respond to hormone therapy." [NCIT:C114932]
synonym: "hormone-refractory breast cancer" EXACT [NCIT:C114932]
synonym: "hormone-resistant breast cancer" EXACT [NCIT:C114932]
synonym: "hormone-resistant breast carcinoma" EXACT [NCIT:C114932]
xref: NCIT:C114932 {source="MONDO:equivalentTo"}
is_a: MONDO:0004989 {source="NCIT:C114932"} ! breast carcinoma
property_value: exactMatch NCIT:C114932

[Term]
id: MONDO:0056814
name: hormone-resistant prostate carcinoma
def: "Prostate carcinoma that does not respond to hormone therapy." [NCIT:C114933]
synonym: "hormone-resistant prostate cancer" EXACT [NCIT:C114933]
synonym: "hormone-resistant prostate carcinoma" EXACT [NCIT:C114933]
xref: NCIT:C114933 {source="MONDO:equivalentTo"}
is_a: MONDO:0005159 {source="NCIT:C114933"} ! prostate carcinoma
property_value: exactMatch NCIT:C114933

[Term]
id: MONDO:0056815
name: liver adenosquamous carcinoma
def: "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." [NCIT:C118630]
synonym: "liver adenosquamous cancer" EXACT [NCIT:C118630]
synonym: "liver adenosquamous carcinoma" EXACT [NCIT:C118630]
xref: NCIT:C118630 {source="MONDO:equivalentTo"}
xref: UMLS:C3898586 {source="NCIT:C118630", source="MONDO:equivalentTo"}
is_a: MONDO:0006074 {source="NCIT:C118630"} ! adenosquamous carcinoma
is_a: MONDO:0018534 ! squamous cell carcinoma of liver and intrahepatic biliary tract
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3898586
property_value: exactMatch NCIT:C118630

[Term]
id: MONDO:0056816
name: vulvar neuroendocrine carcinoma
def: "A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas." [NCIT:C128243]
synonym: "mammalian vulva neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "neuroendocrine carcinoma of mammalian vulva" EXACT []
synonym: "vulvar high grade Neuroendocrine carcinoma" EXACT [NCIT:C128243]
synonym: "vulvar high grade Neuroendocrine neoplasm" EXACT [NCIT:C128243]
synonym: "vulvar Neuroendocrine cancer" EXACT [NCIT:C128243]
synonym: "vulvar Neuroendocrine carcinoma" EXACT [NCIT:C128243]
xref: NCIT:C128243 {source="MONDO:equivalentTo"}
xref: UMLS:C4288002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002120 {source="NCIT:C128243"} ! neuroendocrine carcinoma
is_a: MONDO:0005215 {source="NCIT:C128243"} ! vulvar carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4288002
property_value: exactMatch NCIT:C128243

[Term]
id: MONDO:0056817
name: rectal adenosquamous carcinoma
def: "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43594]
synonym: "rectal adenosquamous cancer" EXACT [NCIT:C43594]
synonym: "rectal adenosquamous carcinoma" EXACT [NCIT:C43594]
xref: NCIT:C43594 {source="MONDO:equivalentTo"}
xref: UMLS:C1709865 {source="MONDO:equivalentTo"}
is_a: MONDO:0006157 {source="NCIT:C43594"} ! colorectal adenosquamous carcinoma
is_a: MONDO:0018515 ! squamous cell carcinoma of rectum
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1709865
property_value: exactMatch NCIT:C43594

[Term]
id: MONDO:0056818
name: skin adenosquamous carcinoma
def: "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." [NCIT:C54250]
synonym: "skin adenosquamous cancer" EXACT [NCIT:C54250]
synonym: "skin adenosquamous carcinoma" EXACT [NCIT:C54250]
xref: NCIT:C54250 {source="MONDO:equivalentTo"}
xref: UMLS:C1710103 {source="MONDO:equivalentTo"}
is_a: MONDO:0002529 ! skin squamous cell carcinoma
is_a: MONDO:0006074 {source="NCIT:C54250"} ! adenosquamous carcinoma
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710103
property_value: exactMatch NCIT:C54250

[Term]
id: MONDO:0056819
name: nasal cavity and paranasal sinus carcinoma
def: "A carcinoma arising from the nasal cavity or paranasal sinuses." [NCIT:C54293]
comment: Editor note: TODO add uberon term
synonym: "nasal cavity and paranasal sinus cancer" EXACT [NCIT:C54293]
synonym: "nasal cavity and paranasal sinus carcinoma" EXACT [NCIT:C54293]
synonym: "paranasal sinus and nasal cavity cancer" EXACT [NCIT:C54293]
synonym: "sinonasal carcinoma" EXACT [NCIT:C54293]
xref: GARD:0007650 {source="MONDO:equivalentTo"}
xref: NCIT:C54293 {source="MONDO:equivalentTo"}
xref: UMLS:C1710095 {source="MONDO:equivalentTo"}
is_a: MONDO:0002038 {source="NCIT:C54293"} ! head and neck carcinoma
is_a: MONDO:0056820 {source="NCIT:C54293"} ! nasal cavity and paranasal sinus neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1710095
property_value: exactMatch NCIT:C54293

[Term]
id: MONDO:0056820
name: nasal cavity and paranasal sinus neoplasm
def: "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7336]
comment: Editor note: TODO add uberon term
synonym: "nasal cavity and paranasal sinus neoplasm" EXACT [NCIT:C7336]
xref: NCIT:C7336 {source="MONDO:equivalentTo"}
xref: UMLS:C1334925 {source="MONDO:equivalentTo"}
is_a: MONDO:0005586 {source="NCIT:C7336"} ! head and neck neoplasm
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1334925
property_value: exactMatch NCIT:C7336

[Term]
id: MONDO:0056821
name: bronchiolitis obliterans organizing pneumonia
def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia . Treatment often includes corticosteroid medications." [GARD:0005961]
subset: gard_rare
synonym: "BOOP" RELATED [GARD:0005961]
synonym: "constrictive bronchiolitis" RELATED [GARD:0005961]
synonym: "organized pneumonia" EXACT []
synonym: "organizing pneumonia" RELATED [GARD:0005961]
xref: GARD:0005961 {source="MONDO:equivalentTo"}
xref: SCTID:68409003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005249 {source="linkedlife"} ! pneumonia
property_value: exactMatch http://identifiers.org/snomedct/68409003

[Term]
id: MONDO:0056822
name: amyotonia congenita
synonym: "amyotonia congenita" EXACT [OMIM:205000]
synonym: "Oppenheim disease" RELATED [OMIM:205000]
xref: OMIM:205000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0002735
property_value: exactMatch http://identifiers.org/omim/205000

[Term]
id: MONDO:0060455
name: X-linked congenital hemolytic anemia
synonym: "hemolytic anemia, congenital, X-linked" RELATED [OMIM:301015]
xref: OMIM:301015 {source="MONDO:equivalentTo"}
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0003689 ! familial hemolytic anemia
property_value: exactMatch http://identifiers.org/omim/301015

[Term]
id: MONDO:0060456
name: cerebral sclerosis, diffuse, scholz type
synonym: "cerebral sclerosis, diffuse, scholz type" EXACT [OMIM:302700]
xref: MESH:C564449 {source="MONDO:equivalentTo"}
xref: OMIM:302700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1844884
property_value: exactMatch http://identifiers.org/mesh/C564449
property_value: exactMatch http://identifiers.org/omim/302700

[Term]
id: MONDO:0060457
name: autoinflammation with arthritis and dyskeratosis
synonym: "AIADK" RELATED [OMIM:617388]
synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis; AIADK" RELATED [OMIM:617388]
xref: OMIM:617388 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479278
property_value: exactMatch http://identifiers.org/omim/617388

[Term]
id: MONDO:0060486
name: arthrogryposis multiplex congenita, neurogenic, with myelin defect
synonym: "AMCNMY" RELATED [OMIM:617468]
synonym: "ARTHROGRYPOSIS multiplex congenita, neurogenic, with myelin defect; AMCNMY" RELATED [OMIM:617468]
xref: OMIM:617468 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479539
property_value: exactMatch http://identifiers.org/omim/617468

[Term]
id: MONDO:0060489
name: 46,XX sex reversal 4
synonym: "46,XX SEX reversal 4; SRXX4" RELATED [OMIM:617480]
synonym: "46,XX Sex reversal, Sry-Negative" RELATED [OMIM:617480]
synonym: "SRXX4" RELATED [OMIM:617480]
xref: OMIM:617480 {source="MONDO:equivalentTo"}
is_a: MONDO:0010766 {source="MONDOLEX:0010442"} ! 46,XX testicular disorder of sex development
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479552
property_value: exactMatch http://identifiers.org/omim/617480

[Term]
id: MONDO:0060490
name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
synonym: "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; NMIHBA" RELATED [OMIM:617481]
synonym: "NMIHBA" RELATED [OMIM:617481]
xref: OMIM:617481 {source="MONDO:equivalentTo"}
xref: UMLS:C4479566 {source="MONDO:equivalentTo", source="OMIM:617481"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617481
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479566

[Term]
id: MONDO:0060491
name: neurodevelopmental disorder with involuntary movements
comment: Editor note: todo - check orphanet xref
synonym: "NEDIM" RELATED [OMIM:617493]
synonym: "neurodevelopmental disorder with involuntary movements; NEDIM" RELATED [OMIM:617493]
xref: OMIM:617493 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4479569
property_value: exactMatch http://identifiers.org/omim/617493

[Term]
id: MONDO:0060496
name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness
synonym: "myopathy, Congenital, with neuropathy and Deafness" RELATED [OMIM:617519]
synonym: "NEDHND" RELATED [OMIM:617519]
synonym: "neurodevelopmental disorder with hypotonia, neuropathy, and deafness; NEDHND" RELATED [OMIM:617519]
xref: OMIM:617519 {source="MONDO:equivalentTo"}
xref: UMLS:C4479603 {source="MONDO:equivalentTo", source="OMIM:617519"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617519
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479603

[Term]
id: MONDO:0060502
name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
subset: ordo_malformation_syndrome
synonym: "NDMSBA" RELATED [OMIM:617527]
synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies; NDMSBA" RELATED [OMIM:617527]
xref: OMIM:617527 {source="MONDO:equivalentTo", source="Orphanet:521426"}
xref: Orphanet:521426 {source="MONDO:equivalentTo"}
xref: UMLS:C4479631 {source="OMIM:617527", source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:521426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018609 {source="Orphanet:521426"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617527
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479631
property_value: exactMatch Orphanet:521426

[Term]
id: MONDO:0060507
name: retinal dystrophy with or without macular staphyloma
synonym: "RDMS" RELATED [OMIM:617547]
synonym: "retinal dystrophy with or without macular staphyloma; RDMS" RELATED [OMIM:617547]
xref: OMIM:617547 {source="MONDO:equivalentTo"}
xref: UMLS:C4479651 {source="OMIM:617547", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617547
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479651

[Term]
id: MONDO:0060510
name: Cohen-Gibson syndrome
synonym: "COGIS" RELATED [OMIM:617561]
synonym: "Cohen-Gibson syndrome; COGIS" RELATED [OMIM:617561]
xref: OMIM:617561 {source="MONDO:equivalentTo"}
xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="OMIM:617561"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617561
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4479654

[Term]
id: MONDO:0060527
name: maleylacetoacetate isomerase deficiency
synonym: "benign hypersuccinylacetonemia" RELATED [OMIM:617596]
synonym: "hypersuccinylacetonemia, mild" RELATED [OMIM:617596]
synonym: "MAAI deficiency" RELATED [OMIM:617596]
synonym: "MAAID" RELATED [OMIM:617596]
synonym: "maleylacetoacetate isomerase deficiency; MAAID" RELATED [OMIM:617596]
xref: OMIM:617596 {source="MONDO:equivalentTo"}
xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="OMIM:617596"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617596
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1291607

[Term]
id: MONDO:0060532
name: congenital heart defects and skeletal malformations syndrome
synonym: "CHDSKM" RELATED [OMIM:617602]
synonym: "congenital heart defects and skeletal malformations syndrome; CHDSKM" RELATED [OMIM:617602]
xref: OMIM:617602 {source="MONDO:equivalentTo"}
xref: UMLS:C4539857 {source="OMIM:617602", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617602
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539857

[Term]
id: MONDO:0060533
name: microcephaly, short stature, and limb abnormalities
synonym: "microcephaly, short stature, and limb abnormalities; MISSLA" RELATED [OMIM:617604]
synonym: "MISSLA" RELATED [OMIM:617604]
xref: OMIM:617604 {source="MONDO:equivalentTo"}
xref: UMLS:C4539873 {source="OMIM:617604", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617604
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539873

[Term]
id: MONDO:0060549
name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
synonym: "CAKUTHED" RELATED [OMIM:617641]
synonym: "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; CAKUTHED" RELATED [OMIM:617641]
xref: OMIM:617641 {source="MONDO:equivalentTo"}
xref: UMLS:C4539968 {source="MONDO:equivalentTo", source="OMIM:617641"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617641
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539968

[Term]
id: MONDO:0060550
name: polydactyly, postaxial, type a7
synonym: "PAPA7" RELATED [OMIM:617642]
synonym: "polydactyly, postaxial, type A7; PAPA7" RELATED [OMIM:617642]
xref: OMIM:617642 {source="MONDO:equivalentTo"}
is_a: MONDO:0019673 ! postaxial polydactyly type A (disease)
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4539976
property_value: exactMatch http://identifiers.org/omim/617642

[Term]
id: MONDO:0060551
name: cerebellar atrophy, developmental delay, and seizures
synonym: "CADEDS" RELATED [OMIM:617643]
synonym: "cerebellar atrophy, developmental delay, and seizures; CADEDS" RELATED [OMIM:617643]
xref: OMIM:617643 {source="MONDO:equivalentTo"}
xref: UMLS:C4539985 {source="OMIM:617643", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617643
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4539985

[Term]
id: MONDO:0060554
name: vertebral, cardiac, renal, and limb defects syndrome 1
synonym: "3-hydroxyanthranilic acidemia" RELATED [OMIM:617660]
synonym: "congenital NAD deficiency Disorder 1" RELATED [OMIM:617660]
synonym: "VCRL1" RELATED [OMIM:617660]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 1; VCRL1" RELATED [OMIM:617660]
xref: OMIM:617660 {source="MONDO:equivalentTo"}
xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="OMIM:617660"}
is_a: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome
property_value: exactMatch http://identifiers.org/omim/617660
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540004

[Term]
id: MONDO:0060555
name: vertebral, cardiac, renal, and limb defects syndrome 2
synonym: "congenital NAD deficiency disorder 2" RELATED [OMIM:617661]
synonym: "kynureninase deficiency, complete" RELATED [OMIM:617661]
synonym: "VCRL2" RELATED [OMIM:617661]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 2; VCRL2" RELATED [OMIM:617661]
xref: OMIM:617661 {source="MONDO:equivalentTo"}
xref: UMLS:C4540014 {source="MONDO:equivalentTo", source="OMIM:617661"}
is_a: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome
property_value: exactMatch http://identifiers.org/omim/617661
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540014

[Term]
id: MONDO:0060556
name: joint laxity, short stature, and myopia
subset: ordo_malformation_syndrome
synonym: "JLSM" RELATED [OMIM:617662]
synonym: "joint laxity, short stature, and myopia; JLSM" RELATED [OMIM:617662]
xref: OMIM:617662 {source="MONDO:equivalentTo", source="Orphanet:527450"}
xref: Orphanet:527450 {source="MONDO:equivalentTo"}
xref: UMLS:C4540020 {source="MONDO:equivalentTo", source="OMIM:617662"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015332 {source="Orphanet:527450"} ! rare developmental defect with connective tissue involvement
is_a: MONDO:0019700 {source="Orphanet:527450"} ! primary bone dysplasia with multiple joint dislocations
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/617662
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540020
property_value: exactMatch Orphanet:527450

[Term]
id: MONDO:0060562
name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
synonym: "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities; NELABA" RELATED [OMIM:617668]
synonym: "lipoyltransferase 2 deficiency" RELATED [OMIM:617668]
synonym: "NELABA" RELATED [OMIM:617668]
xref: OMIM:617668 {source="MONDO:equivalentTo"}
xref: UMLS:C4540052 {source="OMIM:617668", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617668
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540052

[Term]
id: MONDO:0060564
name: helix syndrome
synonym: "helix" RELATED [OMIM:617671]
synonym: "helix syndrome; helix" RELATED [OMIM:617671]
synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" RELATED [OMIM:617671]
xref: OMIM:617671 {source="MONDO:equivalentTo"}
xref: UMLS:C4522164 {source="MONDO:equivalentTo", source="OMIM:617671"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617671
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4522164

[Term]
id: MONDO:0060568
name: Pilarowski-Bjornsson syndrome
subset: ordo_malformation_syndrome
synonym: "developmental delay and speech apraxia with or without seizures" RELATED [OMIM:617682]
synonym: "Pilarowski-Bjornsson syndrome; PILBOS" RELATED [OMIM:617682]
synonym: "PILBOS" RELATED [OMIM:617682]
xref: OMIM:617682 {source="MONDO:equivalentTo", source="Orphanet:529965"}
xref: Orphanet:529965 {source="MONDO:equivalentTo"}
xref: UMLS:C4540131 {source="MONDO:equivalentTo", source="OMIM:617682"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015159 {source="Orphanet:529965"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617682
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540131
property_value: exactMatch Orphanet:529965

[Term]
id: MONDO:0060577
name: neurodevelopmental disorder with microcephaly, ataxia, and seizures
synonym: "NEDMAS" RELATED [OMIM:617709]
synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures; NEDMAS" RELATED [OMIM:617709]
xref: OMIM:617709 {source="MONDO:equivalentTo"}
xref: UMLS:C4540188 {source="MONDO:equivalentTo", source="OMIM:617709"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617709
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540188

[Term]
id: MONDO:0060578
name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
synonym: "NEMMLAS" RELATED [OMIM:617710]
synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; NEMMLAS" RELATED [OMIM:617710]
xref: OMIM:617710 {source="MONDO:equivalentTo"}
xref: UMLS:C4540192 {source="OMIM:617710", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617710
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540192

[Term]
id: MONDO:0060582
name: auditory neuropathy-optic atrophy syndrome
subset: ordo_disease
synonym: "ANOA" RELATED [OMIM:617717]
synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717]
synonym: "auditory neuropathy and optic atrophy; ANOA" RELATED [OMIM:617717]
xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"}
xref: Orphanet:542585 {source="MONDO:equivalentTo"}
xref: UMLS:C4521678 {source="MONDO:equivalentTo", source="OMIM:617717"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0017718 {source="Orphanet:542585"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
is_a: MONDO:0018609 {source="Orphanet:542585"} ! syndromic hereditary optic neuropathy
is_a: MONDO:0019058 {source="Orphanet:542585"} ! neurometabolic disease
is_a: MONDO:0019589 {source="Orphanet:542585"} ! syndromic genetic deafness
property_value: exactMatch http://identifiers.org/omim/617717
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4521678
property_value: exactMatch Orphanet:542585

[Term]
id: MONDO:0060583
name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID" RELATED [OMIM:617718]
synonym: "PLTEID" RELATED [OMIM:617718]
xref: OMIM:617718 {source="MONDO:equivalentTo"}
xref: UMLS:C4540232 {source="MONDO:equivalentTo", source="OMIM:617718"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617718
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540232

[Term]
id: MONDO:0060585
name: neuronopathy, distal hereditary motor, type 9
synonym: "HMN9" RELATED [OMIM:617721]
synonym: "neuronopathy, distal hereditary motor, type IX; HMN9" RELATED [OMIM:617721]
synonym: "neuropathy, distal hereditary motor, type 9" RELATED [OMIM:617721]
xref: OMIM:617721 {source="MONDO:equivalentTo"}
xref: UMLS:C4540265 {source="OMIM:617721", source="MONDO:equivalentTo"}
is_a: MONDO:0018894 ! distal hereditary motor neuropathy
property_value: exactMatch http://identifiers.org/omim/617721
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540265

[Term]
id: MONDO:0060589
name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction
synonym: "facial palsy, congenital, with ptosis and velopharyngeal dysfunction; FPVEPD" RELATED [OMIM:617732]
synonym: "FPVEPD" RELATED [OMIM:617732]
xref: OMIM:617732 {source="MONDO:equivalentTo"}
xref: UMLS:C4540277 {source="OMIM:617732", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617732
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540277

[Term]
id: MONDO:0060591
name: immunodeficiency, developmental delay, and hypohomocysteinemia
synonym: "IMDDHH" RELATED [OMIM:617744]
synonym: "immunodeficiency, developmental delay, and hypohomocysteinemia; IMDDHH" RELATED [OMIM:617744]
xref: OMIM:617744 {source="MONDO:equivalentTo"}
xref: UMLS:C4540293 {source="OMIM:617744", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617744
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540293

[Term]
id: MONDO:0060592
name: Sweeney-Cox syndrome
synonym: "SWCOS" RELATED [OMIM:617746]
synonym: "Sweeney-Cox syndrome; SWCOS" RELATED [OMIM:617746]
xref: OMIM:617746 {source="MONDO:equivalentTo"}
xref: UMLS:C4540299 {source="OMIM:617746", source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617746
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540299

[Term]
id: MONDO:0060593
name: actn3 deficiency
synonym: "ACTN3 deficiency" EXACT [OMIM:617749]
synonym: "Alpha-actinin-3 deficiency" RELATED [OMIM:617749]
synonym: "sprinting performance" RELATED [OMIM:617749]
xref: OMIM:617749 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888203
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C3888204
property_value: exactMatch http://identifiers.org/omim/617749

[Term]
id: MONDO:0060596
name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
comment: Editor note: Check ORDO class, may refer to more generic class
subset: ordo_disease
synonym: "NEDDFL" RELATED [OMIM:617755]
synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; NEDDFL" RELATED [OMIM:617755]
xref: OMIM:617755 {source="Orphanet:528084", source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="MONDO:equivalentTo"}
xref: UMLS:C4540327 {source="OMIM:617755", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617755
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540327
property_value: exactMatch Orphanet:528084

[Term]
id: MONDO:0060611
name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
synonym: "CIMAH" RELATED [OMIM:617780]
synonym: "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia; CIMAH" RELATED [OMIM:617780]
synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [OMIM:617780]
xref: OMIM:617780 {source="MONDO:equivalentTo"}
xref: UMLS:C4540434 {source="MONDO:equivalentTo", source="OMIM:617780"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617780
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540434

[Term]
id: MONDO:0060621
name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
synonym: "NDMSCA" RELATED [OMIM:617802]
synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; NDMSCA" RELATED [OMIM:617802]
xref: OMIM:617802 {source="MONDO:equivalentTo"}
xref: UMLS:C4540493 {source="OMIM:617802", source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617802
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540493

[Term]
id: MONDO:0060622
name: neurodevelopmental disorder with severe motor impairment and absent language
synonym: "NEDMIAL" RELATED [OMIM:617804]
synonym: "neurodevelopmental disorder with severe motor impairment and absent language; NEDMIAL" RELATED [OMIM:617804]
xref: OMIM:617804 {source="MONDO:equivalentTo"}
xref: UMLS:C4540496 {source="MONDO:equivalentTo", source="OMIM:617804"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617804
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540496

[Term]
id: MONDO:0060624
name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
synonym: "NDAGSCW" RELATED [OMIM:617807]
synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter; NDAGSCW" RELATED [OMIM:617807]
xref: OMIM:617807 {source="MONDO:equivalentTo"}
xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="OMIM:617807"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617807
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540498

[Term]
id: MONDO:0060627
name: glycosylphosphatidylinositol biosynthesis defect 15
subset: ordo_malformation_syndrome
synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [OMIM:617810]
synonym: "glycosylphosphatidylinositol biosynthesis defect 15; GPIBD15" RELATED [OMIM:617810]
synonym: "GPIBD15" RELATED [OMIM:617810]
xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"}
xref: Orphanet:529665 {source="MONDO:equivalentTo"}
xref: UMLS:C4540520 {source="OMIM:617810", source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:529665"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017118 {source="Orphanet:529665"} ! syndrome with a cerebellar malformation as major feature
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0043005 ! genetic multiple congenital anomalies/dysmorphic syndrome
property_value: exactMatch http://identifiers.org/omim/617810
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4540520
property_value: exactMatch Orphanet:529665

[Term]
id: MONDO:0060629
name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
synonym: "NDHMSR" RELATED [OMIM:617820]
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; NDHMSR" RELATED [OMIM:617820]
xref: OMIM:617820 {source="MONDO:equivalentTo"}
xref: UMLS:CN737161 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617820
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737161

[Term]
id: MONDO:0060631
name: Alkuraya-Kucinskas syndrome
synonym: "ALKKUCS" RELATED [OMIM:617822]
synonym: "Alkuraya-Kucinskas syndrome; ALKKUCS" RELATED [OMIM:617822]
xref: OMIM:617822 {source="MONDO:equivalentTo"}
xref: UMLS:CN737163 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617822
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN737163

[Term]
id: MONDO:0060640
name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
synonym: "NEDMEBA" RELATED [OMIM:617862]
synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; NEDMEBA" RELATED [OMIM:617862]
xref: OMIM:617862 {source="MONDO:equivalentTo"}
xref: UMLS:CN787271 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617862
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN787271

[Term]
id: MONDO:0060641
name: neurodevelopmental disorder with or without seizures and gait abnormalities
synonym: "NEDSGA" RELATED [OMIM:617864]
synonym: "neurodevelopmental disorder with or without seizures and gait abnormalities; NEDSGA" RELATED [OMIM:617864]
xref: OMIM:617864 {source="MONDO:equivalentTo"}
xref: UMLS:CN800195 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617864
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN800195

[Term]
id: MONDO:0060642
name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
synonym: "NEDMAGA" RELATED [OMIM:617865]
synonym: "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features; NEDMAGA" RELATED [OMIM:617865]
xref: OMIM:617865 {source="MONDO:equivalentTo"}
xref: UMLS:CN800196 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617865
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN800196

[Term]
id: MONDO:0060649
name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies; SSFSC" RELATED [OMIM:617877]
synonym: "SSFSC" RELATED [OMIM:617877]
xref: OMIM:617877 {source="MONDO:equivalentTo"}
xref: UMLS:CN807949 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617877
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN807949

[Term]
id: MONDO:0060650
name: Leber congenital amaurosis with early-onset deafness
synonym: "LCAEOD" RELATED [OMIM:617879]
synonym: "Leber congenital amaurosis with early-onset deafness; LCAEOD" RELATED [OMIM:617879]
xref: OMIM:617879 {source="MONDO:equivalentTo"}
xref: UMLS:CN807950 {source="MONDO:equivalentTo"}
is_a: MONDO:0018998 ! Leber congenital amaurosis
property_value: exactMatch http://identifiers.org/omim/617879
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN807950

[Term]
id: MONDO:0060659
name: neurodevelopmental disorder with poor language and loss of hand skills
synonym: "NDPLHS" RELATED [OMIM:617903]
synonym: "neurodevelopmental disorder with poor language and loss of hand skills; NDPLHS" RELATED [OMIM:617903]
xref: OMIM:617903 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617903

[Term]
id: MONDO:0060662
name: Diamond-Blackfan anemia-like
synonym: "DBAL" RELATED [OMIM:617911]
synonym: "Diamond-Blackfan anemia-like; DBAL" RELATED [OMIM:617911]
xref: OMIM:617911 {source="MONDO:equivalentTo"}
xref: UMLS:CN873436 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
relationship: disease_shares_features_of MONDO:0015253 ! Diamond-Blackfan anemia
property_value: exactMatch http://identifiers.org/omim/617911
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN873436

[Term]
id: MONDO:0060663
name: congenital heart defects, multiple types, 5
synonym: "CHTD5" RELATED [OMIM:617912]
synonym: "CONGENITAL heart defects, multiple types, 5; CHTD5" RELATED [OMIM:617912]
xref: OMIM:617912 {source="MONDO:equivalentTo"}
xref: UMLS:CN873437 {source="MONDO:equivalentTo"}
is_a: MONDO:0000119 ! congenital heart defects, multiple types
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617912
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN873437

[Term]
id: MONDO:0060664
name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
synonym: "NEDMCR" RELATED [OMIM:617913]
synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; NEDMCR" RELATED [OMIM:617913]
xref: OMIM:617913 {source="MONDO:equivalentTo"}
xref: UMLS:CN889218 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617913
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN889218

[Term]
id: MONDO:0060666
name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
synonym: "HADDTS" RELATED [OMIM:617915]
synonym: "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome; HADDTS" RELATED [OMIM:617915]
xref: OMIM:617915 {source="MONDO:equivalentTo"}
xref: UMLS:CN895589 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617915
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895589

[Term]
id: MONDO:0060670
name: amyotrophic lateral sclerosis, susceptibility to, 25
subset: predisposition
synonym: "ALS25" RELATED [OMIM:617921]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 25; ALS25" RELATED [OMIM:617921]
xref: OMIM:617921 {source="MONDO:equivalentTo"}
xref: UMLS:CN895594 {source="MONDO:equivalentTo"}
is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis
property_value: exactMatch http://identifiers.org/omim/617921
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN895594

[Term]
id: MONDO:0060671
name: epilepsy, juvenile myoclonic, susceptibility to, 10
subset: predisposition
synonym: "EJM10" RELATED [OMIM:617924]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 10; EJM10" RELATED [OMIM:617924]
xref: OMIM:617924 {source="MONDO:equivalentTo"}
is_a: MONDO:0009696 ! juvenile myoclonic epilepsy
property_value: exactMatch http://identifiers.org/omim/617924

[Term]
id: MONDO:0060677
name: chromosome 1p35 deletion syndrome
synonym: "chromosome 1p35 deletion syndrome" EXACT [OMIM:617930]
xref: OMIM:617930 {source="MONDO:equivalentTo"}
xref: UMLS:CN244562 {source="MONDO:equivalentTo"}
is_a: MONDO:0016883 {source="MONDO:cjm"} ! partial deletion of the short arm of chromosome 1
property_value: exactMatch http://identifiers.org/omim/617930
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244562

[Term]
id: MONDO:0060688
name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency
synonym: "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" EXACT [OMIM:617953]
synonym: "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4" RELATED [OMIM:617953]
xref: OMIM:617953 {source="MONDO:equivalentTo"}
xref: UMLS:CN244571 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617953
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244571

[Term]
id: MONDO:0060690
name: phenytoin toxicity
synonym: "arene oxide detoxification defect" RELATED [OMIM:617955]
synonym: "diphenylhydantoin, defect in hydroxylation of" RELATED [OMIM:617955]
synonym: "fetal hydantoin syndrome" RELATED [OMIM:617955]
synonym: "phenytoin toxicity" EXACT [OMIM:617955]
xref: OMIM:617955 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617955

[Term]
id: MONDO:0060702
name: spondyloepimetaphyseal dysplasia, di rocco type
synonym: "SEMDDR" RELATED [OMIM:617974]
synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [OMIM:617974]
xref: OMIM:617974 {source="MONDO:equivalentTo"}
xref: UMLS:CN244923 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 ! spondyloepiphyseal dysplasia
is_a: MONDO:0023603 ! hereditary connective tissue disorder
property_value: exactMatch http://identifiers.org/omim/617974
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244923

[Term]
id: MONDO:0060704
name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
synonym: "Elhattab-Alkuraya syndrome" RELATED [OMIM:617977]
synonym: "NEDSBAS" RELATED [OMIM:617977]
synonym: "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures; NEDSBAS" RELATED [OMIM:617977]
xref: OMIM:617977 {source="MONDO:equivalentTo"}
xref: UMLS:CN244929 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617977
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244929

[Term]
id: MONDO:0060707
name: Ververi-Brady syndrome
synonym: "VERBRAS" RELATED [OMIM:617982]
synonym: "Ververi-Brady syndrome; VERBRAS" RELATED [OMIM:617982]
xref: OMIM:617982 {source="MONDO:equivalentTo"}
xref: UMLS:CN244927 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617982
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244927

[Term]
id: MONDO:0060711
name: Jaberi-Elahi syndrome
synonym: "JABELS" RELATED [OMIM:617988]
synonym: "Jaberi-Elahi syndrome; JABELS" RELATED [OMIM:617988]
xref: OMIM:617988 {source="MONDO:equivalentTo"}
xref: UMLS:CN244943 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617988
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN244943

[Term]
id: MONDO:0060712
name: developmental delay, intellectual disability, obesity, and dysmorphic features
synonym: "developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features; DIDOD" RELATED [OMIM:617991]
synonym: "DIDOD" RELATED [OMIM:617991]
xref: OMIM:617991 {source="MONDO:equivalentTo"}
xref: UMLS:CN248510 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/617991
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248510

[Term]
id: MONDO:0060713
name: deafness, congenital heart defects, and posterior embryotoxon
synonym: "DCHE" RELATED [OMIM:617992]
synonym: "deafnes, congenital heart defects, and posterior embryotoxon; DCHE" RELATED [OMIM:617992]
xref: MESH:C566604 {source="MONDO:equivalentTo"}
xref: OMIM:617992 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/mesh/C566604
property_value: exactMatch http://identifiers.org/omim/617992

[Term]
id: MONDO:0060714
name: tumoral calcinosis, hyperphosphatemic, familial, 2
synonym: "HFTC2" RELATED [OMIM:617993]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2; HFTC2" RELATED [OMIM:617993]
xref: OMIM:617993 {source="MONDO:equivalentTo"}
is_a: MONDO:0008897 {source="https://orcid.org/0000-0002-2825-0621"} ! hyperphosphatemic familial tumoral calcinosis
property_value: exactMatch http://identifiers.org/omim/617993

[Term]
id: MONDO:0060715
name: tumoral calcinosis, hyperphosphatemic, familial, 3
synonym: "HFTC3" RELATED [OMIM:617994]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3; HFTC3" RELATED [OMIM:617994]
xref: OMIM:617994 {source="MONDO:equivalentTo"}
is_a: MONDO:0008897 {source="https://orcid.org/0000-0002-2825-0621"} ! hyperphosphatemic familial tumoral calcinosis
property_value: exactMatch http://identifiers.org/omim/617994

[Term]
id: MONDO:0060720
name: congenital disorder of glycosylation with defective fucosylation
synonym: "CDGF" RELATED [OMIM:618005]
synonym: "congenital disorder of glycosylation with defective fucosylation; CDGF" RELATED [OMIM:618005]
xref: OMIMPS:618005 {source="MONDO:equivalentTo"}
xref: UMLS:CN248517 {source="MONDO:equivalentTo"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248517

[Term]
id: MONDO:0060722
name: obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities
is_obsolete: true
replaced_by: MONDO:0013346

[Term]
id: MONDO:0060724
name: glycosylphosphatidylinositol biosynthesis defect 17
synonym: "glycosylphosphatidylinositol biosynthesis defect 17; GPIBD17" RELATED [OMIM:618010]
synonym: "GPIBD17" RELATED [OMIM:618010]
xref: OMIM:618010 {source="MONDO:equivalentTo"}
xref: UMLS:CN248527 {source="MONDO:equivalentTo"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0024321 ! disorder of GPI anchor biosynthesis
property_value: exactMatch http://identifiers.org/omim/618010
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248527

[Term]
id: MONDO:0060729
name: protoporphyria, erythropoietic, 2
synonym: "EPP2" RELATED [OMIM:618015]
synonym: "protoporphyria, erythropoietic, 2; EPP2" RELATED [OMIM:618015]
xref: OMIM:618015 {source="MONDO:equivalentTo"}
xref: UMLS:CN248523 {source="MONDO:equivalentTo"}
is_a: MONDO:0001676 ! erythropoietic protoporphyria
is_a: MONDO:0019142 ! inherited porphyria
property_value: exactMatch http://identifiers.org/omim/618015
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248523

[Term]
id: MONDO:0060732
name: tetraamelia syndrome 2
synonym: "TETAMS2" RELATED [OMIM:618021]
synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [OMIM:618021]
synonym: "tetraamelia syndrome 2; TETAMS2" RELATED [OMIM:618021]
xref: OMIM:618021 {source="MONDO:equivalentTo"}
is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome
property_value: exactMatch http://identifiers.org/omim/618021

[Term]
id: MONDO:0060733
name: humerofemoral hypoplasia with radiotibial ray deficiency
synonym: "Hfhrtrd" RELATED [OMIM:618022]
synonym: "HHRRD" RELATED [OMIM:618022]
synonym: "humerofemoral hypoplasia with radiotibial ray deficiency; HHRRD" RELATED [OMIM:618022]
xref: OMIM:618022 {source="MONDO:equivalentTo"}
xref: UMLS:CN248526 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618022
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN248526

[Term]
id: MONDO:0060745
name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia
synonym: "IDDECA" RELATED [OMIM:618060]
synonym: "intellectual developmental disorder with or without epilepsy or cerebellar ataxia; IDDECA" RELATED [OMIM:618060]
xref: OMIM:618060 {source="MONDO:equivalentTo"}
xref: UMLS:CN252646 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618060
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN252646

[Term]
id: MONDO:0060752
name: neurodevelopmental disorder with spasticity and poor growth
synonym: "NEDSG" RELATED [OMIM:618076]
synonym: "neurodevelopmental disorder with spasticity and poor growth; NEDSG" RELATED [OMIM:618076]
xref: OMIM:618076 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618076

[Term]
id: MONDO:0060758
name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
synonym: "SCA42ND" RELATED [OMIM:618087]
synonym: "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits; SCA42ND" RELATED [OMIM:618087]
xref: OMIM:618087 {source="MONDO:equivalentTo"}
is_a: MONDO:0014776 ! spinocerebellar ataxia type 42
property_value: exactMatch http://identifiers.org/omim/618087

[Term]
id: MONDO:0060759
name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
synonym: "NEDAMSS" RELATED [OMIM:618088]
synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; NEDAMSS" RELATED [OMIM:618088]
xref: OMIM:618088 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618088

[Term]
id: MONDO:0060760
name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
synonym: "IDDFBA" RELATED [OMIM:618089]
synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities; IDDFBA" RELATED [OMIM:618089]
xref: OMIM:618089 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/618089

[Term]
id: MONDO:0060761
name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
synonym: "NEDEHCC" RELATED [OMIM:618090]
synonym: "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum; NEDEHCC" RELATED [OMIM:618090]
xref: OMIM:618090 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 ! Mendelian disease
property_value: exactMatch http://identifiers.org/omim/618090

[Term]
id: MONDO:0060763
name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
synonym: "IDDSFTA" RELATED [OMIM:618092]
synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities; IDDSFTA" RELATED [OMIM:618092]
xref: OMIM:618092 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0019117 ! genetic nervous system disorder
property_value: exactMatch http://identifiers.org/omim/618092

[Term]
id: MONDO:0060764
name: tetraamelia syndrome 1
synonym: "TETAMS1" RELATED [OMIM:273395]
synonym: "tetraamelia syndrome 1; TETAMS1" RELATED [OMIM:273395]
synonym: "tetraamelia syndrome, autosomal recessive" RELATED [OMIM:273395]
xref: OMIM:273395 {source="MONDO:equivalentTo"}
is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4012268
property_value: exactMatch http://identifiers.org/omim/273395

[Term]
id: MONDO:0060765
name: fibroepithelial polyp
def: "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." [NCIT:C3337]
synonym: "fibroepithelial polyp" EXACT [NCIT:C3337]
synonym: "fibropapilloma, benign" EXACT [NCIT:C3337]
xref: NCIT:C3337 {source="MONDO:equivalentTo"}
is_a: MONDO:0005079 {source="NCIT:C3337"} ! polyp
property_value: exactMatch NCIT:C3337

[Term]
id: MONDO:0060766
name: anal polyp
def: "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." [NCIT:C3957]
synonym: "anal polyp" EXACT [NCIT:C3957]
synonym: "polyp of anus" EXACT [NCIT:C3957]
synonym: "polyp of the anus" EXACT [NCIT:C3957]
xref: NCIT:C3957 {source="MONDO:equivalentTo"}
xref: SCTID:88580009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267573 {source="MONDO:equivalentTo"}
is_a: MONDO:0002519 {source="NCIT:C3957"} ! anus disease
is_a: MONDO:0021398 ! polyp of rectum
is_a: MONDO:0024292 {source="NCIT:C3957"} ! gastrointestinal polyp
property_value: exactMatch http://identifiers.org/snomedct/88580009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0267573
property_value: exactMatch NCIT:C3957

[Term]
id: MONDO:0060768
name: gingival fibroepithelial polyp
def: "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma." [NCIT:C4693]
synonym: "fibroepithelial polyp of gingiva" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of gum" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of the gingiva" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of the gum" EXACT [NCIT:C4693]
synonym: "gingival fibroepithelial polyp" EXACT [NCIT:C4693]
synonym: "gum fibroepithelial polyp" EXACT [NCIT:C4693]
xref: NCIT:C4693 {source="MONDO:equivalentTo"}
xref: SCTID:235001002 {source="MONDO:equivalentTo"}
xref: UMLS:C0399441 {source="MONDO:equivalentTo"}
is_a: MONDO:0003396 {source="NCIT:C4693"} ! epulis
is_a: MONDO:0060765 {source="NCIT:C4693"} ! fibroepithelial polyp
property_value: exactMatch http://identifiers.org/snomedct/235001002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0399441
property_value: exactMatch NCIT:C4693

[Term]
id: MONDO:0060774
name: vaginal fibroepithelial polyp
def: "A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells." [NCIT:C4948]
synonym: "fibroepithelial polyp of the vagina" EXACT [NCIT:C4948]
synonym: "fibroepithelial polyp of vagina" EXACT [NCIT:C4948]
synonym: "vaginal fibroepithelial polyp" EXACT [NCIT:C4948]
synonym: "vaginal fibroepithelial stromal polyp" EXACT [NCIT:C4948]
xref: NCIT:C4948 {source="MONDO:equivalentTo"}
xref: UMLS:C0750071 {source="MONDO:equivalentTo"}
is_a: MONDO:0021394 {source="NCIT:C4948"} ! polyp of vagina
is_a: MONDO:0060765 {source="NCIT:C4948"} ! fibroepithelial polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0750071
property_value: exactMatch NCIT:C4948

[Term]
id: MONDO:0060777
name: cervical fibroepithelial polyp
def: "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium." [NCIT:C40200]
synonym: "Cervical fibroepithelial polyp" EXACT [NCIT:C40200]
synonym: "uterine cervix fibroepithelial polyp" EXACT [NCIT:C40200]
xref: NCIT:C40200 {source="MONDO:equivalentTo"}
xref: UMLS:C1516413 {source="MONDO:equivalentTo"}
is_a: MONDO:0000751 {source="NCIT:C40200"} ! cervical polyp (disease)
is_a: MONDO:0060765 {source="NCIT:C40200"} ! fibroepithelial polyp
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1516413
property_value: exactMatch NCIT:C40200

[Term]
id: MONDO:0060778
name: adult Fanconi syndrome
def: "Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003" [NCIT:C4377]
synonym: "adult Fanconi syndrome" EXACT [NCIT:C4377]
synonym: "adult Fanconi's syndrome" EXACT [NCIT:C4377]
xref: NCIT:C4377 {source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="NCIT:C4377"} ! Fanconi renotubular syndrome
property_value: exactMatch NCIT:C4377

[Term]
id: MONDO:0060779
name: acquired Fanconi syndrome
def: "Fanconi Syndrome caused by exposure to noxious agents." [NCIT:C78296]
synonym: "acquired Fanconi syndrome" EXACT [NCIT:C78296]
xref: NCIT:C78296 {source="MONDO:equivalentTo"}
xref: SCTID:236467001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341702 {source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="NCIT:C78296"} ! Fanconi renotubular syndrome
intersection_of: MONDO:0001083 ! Fanconi renotubular syndrome
intersection_of: has_modifier MONDO:0021141 ! acquired
relationship: has_modifier MONDO:0021141 ! acquired
property_value: exactMatch http://identifiers.org/snomedct/236467001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0341702
property_value: exactMatch NCIT:C78296

[Term]
id: MONDO:0060781
name: Preeyasombat-Varavithya syndrome
synonym: "Fanconi syndrome caused by degraded tetracycline" RELATED [MESH:C535269]
xref: MESH:C535269 {source="MONDO:equivalentTo"}
xref: UMLS:C2930859 {source="MONDO:equivalentTo"}
is_a: MONDO:0060779 ! acquired Fanconi syndrome
property_value: exactMatch http://identifiers.org/mesh/C535269
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930859

[Term]
id: MONDO:0060782
name: premalignant hematological system disease
def: "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." [NCIT:C27274]
synonym: "premalignant hematologic condition" EXACT [NCIT:C27274]
xref: NCIT:C27274 {source="MONDO:equivalentTo"}
xref: UMLS:C1335471 {source="NCIT:C27274", source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="NCIT:C27274"} ! hematologic disease
is_a: MONDO:0021074 ! precancerous condition
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1335471
property_value: exactMatch NCIT:C27274

[Term]
id: MONDO:0060783
name: classic congenital adrenal hyperplasia
def: "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement." [NCIT:C131423]
synonym: "classic CAH" EXACT []
synonym: "classic congenital adrenal hyperplasia" EXACT [NCIT:C131423]
xref: NCIT:C131423 {source="MONDO:equivalentTo"}
xref: UMLS:C4329672 {source="MONDO:equivalentTo"}
is_a: MONDO:0018479 {source="NCIT:C131423"} ! congenital adrenal hyperplasia
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4329672
property_value: exactMatch NCIT:C131423

[Term]
id: MONDO:0100000
name: MED12-related intellectual disability syndrome
def: "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." [https://orcid.org/0000-0002-6733-369X, PMID:20301719]
synonym: "MED12 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in MED12" EXACT []
is_a: MONDO:0020119 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6733-369X"} ! X-linked syndromic intellectual disability
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-03-09T01:45:27Z xsd:dateTime

[Term]
id: MONDO:0100001
name: alpha-gal syndrome
def: "An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal)." [PMID:25747720]
synonym: "allergic galactose-alpha-1,3-galactose disease" EXACT [http://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0005271 ! allergic disease
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-03-13T04:40:23Z xsd:dateTime

[Term]
id: MONDO:0100002
name: food protein-induced allergic proctocolitis
def: "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins." [PMID:17584315]
synonym: "allergic proctocolitis" BROAD [http://orcid.org/0000-0001-5208-3432]
synonym: "FPIPC" EXACT [http://orcid.org/0000-0001-5208-3432]
synonym: "milk protein proctocololitis" NARROW [http://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0000777 ! gastrointestinal allergy
is_a: MONDO:0024278 ! proctocolitis
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-03-14T03:32:19Z xsd:dateTime

[Term]
id: MONDO:0100004
name: mast cell activation syndrome
def: "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." [MEDDRA:10075217, PMID:22555026, PMID:23409940]
synonym: "disorder of mast cell activation" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of mast cell activation" RELATED [MONDO:patterns/basis_in_disruption_of_process]
synonym: "MACS" EXACT []
synonym: "mast cell activation disease" EXACT [MONDO:design_pattern]
xref: GARD:0012981 {source="MONDO:equivalentTo"}
is_a: MONDO:0004805 ! leukocyte disease
is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T21:32:53Z xsd:dateTime

[Term]
id: MONDO:0100005
name: primary mast cell activation syndrome
def: "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." [PMID:23409940]
synonym: "primary MACS" EXACT []
is_a: MONDO:0100004 ! mast cell activation syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T21:43:00Z xsd:dateTime

[Term]
id: MONDO:0100006
name: secondary mast cell activation syndrome
def: "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells." [PMID:23409940]
synonym: "secondary MACS" EXACT []
is_a: MONDO:0100004 ! mast cell activation syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T21:45:26Z xsd:dateTime

[Term]
id: MONDO:0100008
name: food protein-induced enterocolitis syndrome
def: "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." [PMID:25746969]
synonym: "delayed food allergy" EXACT []
synonym: "FPIES" EXACT []
is_a: MONDO:0009172 ! enterocolitis (disease)
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T21:10:26Z xsd:dateTime

[Term]
id: MONDO:0100010
name: tendinopathy
def: "Disorders that are causes by overuse of tendons." [PMID:19188560]
synonym: "disease of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of tendon" EXACT []
synonym: "disorder of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of tendon" RELATED [MONDO:patterns/location_top]
synonym: "tendon disease" EXACT [MONDO:design_pattern]
synonym: "tendon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1001434 {source="MONDO:equivalentTo"}
xref: SCTID:68172002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 ! musculoskeletal system disease
is_a: MONDO:0003900 {source="MONDO:Redundant", source="linkedlifedata/inferred"} ! connective tissue disease
property_value: exactMatch http://identifiers.org/snomedct/68172002
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T15:51:39Z xsd:dateTime

[Term]
id: MONDO:0100011
name: tendinosis
def: "The chronic degeneration of a tendon without inflammation." [PMID:27469590]
xref: SCTID:724152009 {source="MONDO:equivalentTo"}
is_a: MONDO:0100010 ! tendinopathy
property_value: exactMatch http://identifiers.org/snomedct/724152009
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T15:58:43Z xsd:dateTime

[Term]
id: MONDO:0100012
name: paratenonitis
def: "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium." [PMID:14560540]
is_a: MONDO:0004857 ! tendinitis
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T16:02:16Z xsd:dateTime

[Term]
id: MONDO:0100013
name: paratenonitis with tendinosis
def: "Paratenonitis associated with intratendinous degeneration." [PMID:14560540]
is_a: MONDO:0100012 ! paratenonitis
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T16:02:57Z xsd:dateTime

[Term]
id: MONDO:0100014
name: autoimmune retinopathy
def: "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss." [PMID:29721944]
synonym: "AIR" EXACT []
synonym: "autoimmune disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:0012034 {source="MONDO:equivalentTo"}
xref: SCTID:724809006 {source="MONDO:equivalentTo"}
xref: UMLS:C3203657 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
is_a: MONDO:0002977 ! autoimmune disease of the nervous system
is_a: MONDO:0005283 ! retinal disease
property_value: exactMatch http://identifiers.org/snomedct/724809006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3203657
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-05-23T00:32:51Z xsd:dateTime

[Term]
id: MONDO:0100015
name: adult-onset segmental dystonia
synonym: "an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)." EXACT [PMID:23222958]
synonym: "DYT-GNAL" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
is_a: MONDO:0000479 {source="MONDO:cjm", source="MONDOLEX:0100015"} ! segmental dystonia
is_a: MONDO:0015990 ! focal, segmental or multifocal dystonia
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-05-25T20:41:39Z xsd:dateTime

[Term]
id: MONDO:0100016
name: early-onset generalized dystonia
synonym: "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population." EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:27839873, PMID:27992417]
synonym: "DYT-KMT2B" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "early-onset generalized isolated dystonia" RELATED []
synonym: "early-onset, generalized dystonia with mild syndromic features" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
is_a: MONDO:0018303 {source="MONDOLEX:0100016"} ! generalized isolated dystonia
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-05-25T20:53:07Z xsd:dateTime

[Term]
id: MONDO:0100019
name: ECHS1-related paroxysmal dyskinesia
def: "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years." [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:28039521]
synonym: "ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia" EXACT [PMID:28039521]
is_a: MONDO:0015427 ! paroxysmal dyskinesia
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-05-25T21:46:36Z xsd:dateTime

[Term]
id: MONDO:0100020
name: atypical childhood epilepsy with centrotemporal spikes
def: "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/atypical-ects-overview.html]
synonym: "atonic-benign childhood epilepsy with centrotemporal spikes" EXACT []
synonym: "atypical benign partial epilepsy of childhood" EXACT []
synonym: "pseudo-Lennox syndrome" EXACT []
is_a: MONDO:0020072 ! childhood-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T22:43:29Z xsd:dateTime

[Term]
id: MONDO:0100021
name: photosensitive occipital lobe epilepsy
def: "A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/idiophatic-pole-overview.html]
is_a: MONDO:0020072 ! childhood-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T22:48:33Z xsd:dateTime

[Term]
id: MONDO:0100022
name: neonatal/infantile epilepsy syndrome
def: "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." []
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
xref: http://orcid.org/0000-0001-8486-0558
is_a: MONDO:0015650 ! epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:34:03Z xsd:dateTime
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0100023
name: self-limited familial and non-familial neonatal seizures
def: "A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html]
comment: Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy.
synonym: "self-limited familial neonatal-infantile epilepsy" NARROW []
is_a: MONDO:0100022 {source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:38:16Z xsd:dateTime

[Term]
id: MONDO:0100024
name: self-limited familial and non-familial infantile seizures
def: "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/benign-fam-nonfam-infantile-overview.html]
is_a: MONDO:0100022 {source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:46:09Z xsd:dateTime

[Term]
id: MONDO:0100025
name: epilepsy of infancy with migrating focal seizures
def: "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/infancy-migrating-focal-overview.html]
xref: SCTID:733195008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518639 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"}
is_a: MONDO:0100022 {source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: exactMatch http://identifiers.org/snomedct/733195008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C4518639
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:54:03Z xsd:dateTime

[Term]
id: MONDO:0100026
name: myoclonic encephalopathy in non-progressive disorder
def: "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/menpd-overview.html]
is_a: MONDO:0100022 {source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:56:39Z xsd:dateTime

[Term]
id: MONDO:0100027
name: febrile seizures plus, genetic epilepsy with febrile seizures plus
def: "These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html]
is_a: MONDO:0100022 {source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T23:58:47Z xsd:dateTime

[Term]
id: MONDO:0100028
name: immune epilepsy
def: "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/aetiology/immune-groupoverview.html]
is_a: MONDO:0005027 {source="http://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T00:11:14Z xsd:dateTime

[Term]
id: MONDO:0100029
name: antibody mediated epilepsy
def: "An immune epilepsy where the underlying cause is antibody mediated." [https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html]
is_a: MONDO:0100028 ! immune epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T00:52:42Z xsd:dateTime

[Term]
id: MONDO:0100030
name: adolescent/adult-onset epilepsy syndrome
def: "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." []
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: obsoletion_candidate
xref: http://orcid.org/0000-0001-8486-0558
is_a: MONDO:0015650 {source="http://orcid.org/0000-0001-8486-0558"} ! epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T01:43:18Z xsd:dateTime
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1640 xsd:string

[Term]
id: MONDO:0100031
name: adolescent/adult onset autosomal dominant epilepsy with auditory features
def: "A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html]
synonym: "autosomal dominant partial/lateral temporal epilepsy with auditory features" EXACT []
is_a: MONDO:0010898 {source="https://github.com/monarch-initiative/mondo/issues/1764"} ! Autosomal dominant epilepsy with auditory features
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T01:47:18Z xsd:dateTime

[Term]
id: MONDO:0100032
name: familial temporal lobe epilepsy syndrome
def: "This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." [https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html]
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T01:48:38Z xsd:dateTime

[Term]
id: MONDO:0100033
name: metabolic epilepsy
def: "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html]
is_a: MONDO:0005027 {source="http://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T18:55:00Z xsd:dateTime

[Term]
id: MONDO:0100034
name: cerebral folate deficiency
def: "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html]
is_a: MONDO:0005528 ! inborn vitamin metabolic disorder
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0100033 ! metabolic epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T19:01:19Z xsd:dateTime

[Term]
id: MONDO:0100035
name: structural epilepsy
def: "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." [http://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/aetiology/structural-groupoverview.html]
is_a: MONDO:0005027 ! epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T19:24:32Z xsd:dateTime

[Term]
id: MONDO:0100036
name: variable age onset epilepsy
def: "An epilepsy syndrome that has an onset during variable ages and stages of life." [https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html#]
synonym: "variable age at onset electroclinical syndrome" BROAD [DOID:0050706]
xref: DOID:0050706 {source="MONDO:equivalentTo"}
xref: http://orcid.org/0000-0001-8486-0558
is_a: MONDO:0005027 {source="http://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: exactMatch DOID:0050706
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T19:42:08Z xsd:dateTime

[Term]
id: MONDO:0100038
name: complex neurodevelopmental disorder
def: "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)." [https://orcid.org/0000-0002-6733-369X, https://www.clinicalgenome.org/working-groups/clinical-domain/pediatric-neurology-clinical-domain-working-group/]
is_a: MONDO:0005071 ! nervous system disorder
relationship: excluded_subClassOf MONDO:0019117 {source="https://orcid.org/0000-0002-6733-369X"} ! genetic nervous system disorder
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T18:21:11Z xsd:dateTime

[Term]
id: MONDO:0100039
name: CDKL5 disorder
def: "A monogenic disease that has_material_basis_in mutation in the CDKL5 gene." [PMID:21154482, PMID:22872100, PMID:27080038, PMID:27528505]
comment: Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"}
synonym: "CDKL5" RELATED [GARD:0012173]
synonym: "CDKL5 inherited genetic disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CDKL5-related disorder" RELATED [GARD:0012173]
synonym: "inherited genetic disease caused by mutation in CDKL5" EXACT [MONDO:design_pattern]
xref: GARD:0012173 {source="MONDO:equivalentTo"}
is_a: MONDO:0000594 ! pervasive developmental disorder
is_a: MONDO:0017656 {source="indirect"} ! motor stereotypies
is_a: MONDO:0017663 ! inherited tremor disorder
is_a: MONDO:0020119 ! X-linked syndromic intellectual disability
is_a: MONDO:0100148 ! X-linked complex neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0015653 ! monogenic epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T18:32:48Z xsd:dateTime

[Term]
id: MONDO:0100040
name: FOXG1 disorder
def: "A monogenic disease that has_material_basis_in mutation in the FOXG1 gene." []
comment: Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"}
synonym: "FOXG1 inherited genetic disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "inherited genetic disease caused by mutation in FOXG1" EXACT []
is_a: MONDO:0000508 {source="http://orcid.org/0000-0001-5208-3432", source="https://clinicalgenome.org/affiliation/50022/"} ! syndromic intellectual disability
is_a: MONDO:0000594 {source="http://orcid.org/0000-0001-5208-3432", source="https://clinicalgenome.org/affiliation/50022/"} ! pervasive developmental disorder
is_a: MONDO:0015653 {source="http://orcid.org/0000-0001-5208-3432", source="https://clinicalgenome.org/affiliation/50022/"} ! monogenic epilepsy
is_a: MONDO:0017663 ! inherited tremor disorder
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0015653 ! monogenic epilepsy
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-06-29T19:29:48Z xsd:dateTime

[Term]
id: MONDO:0100051
name: idiopathic mast cell activation syndrome
def: "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable." [PMID:23409940]
synonym: "idiopathic MACS" EXACT []
is_a: MONDO:0100004 {source="http://orcid.org/0000-0001-5208-3432"} ! mast cell activation syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T21:46:53Z xsd:dateTime

[Term]
id: MONDO:0100052
name: acetazolamide-responsive hereditary episodic ataxia
def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide." [PMID:23677664]
is_a: MONDO:0016227 {source="MONDO:Redundant", source="http://orcid.org/0000-0001-5208-3432"} ! hereditary episodic ataxia
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-07-25T17:53:07Z xsd:dateTime

[Term]
id: MONDO:0100053
name: anaphylaxis
def: "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." [NCIT_C107101]
synonym: "anaphylactic shock" EXACT []
synonym: "systemic anaphylaxis" EXACT [PMID:18596587]
xref: NCIT:C107101 {source="MONDO:equivalentTo"}
is_a: MONDO:0000605 ! hypersensitivity reaction disease
property_value: exactMatch NCIT:C107101
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:39:34Z xsd:dateTime

[Term]
id: MONDO:0100054
name: idiopathic anaphylaxis
def: "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." [PMID:28890861]
xref: SCTID:241954008 {source="MONDO:equivalentTo"}
is_a: MONDO:0100053 ! anaphylaxis
property_value: exactMatch http://identifiers.org/snomedct/241954008
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:39:53Z xsd:dateTime

[Term]
id: MONDO:0100056
name: exercise-induced anaphylaxis
def: "A rare disorder in which anaphylaxis occurs in association with physical activity." [GARD:0006392]
synonym: "EIAn" EXACT [GARD:0006392]
is_a: MONDO:0100053 ! anaphylaxis
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:51:10Z xsd:dateTime
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis xsd:string {source="GARD:0006392"}

[Term]
id: MONDO:0100057
name: food-dependent exercise-induced anaphylaxis
def: "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." [GARD:0006392]
is_a: MONDO:0100056 ! exercise-induced anaphylaxis
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T17:55:08Z xsd:dateTime
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis xsd:string {source="GARD:0006392"}

[Term]
id: MONDO:0100058
name: hypervalinemia and hyperleucine-isoleucinemia
alt_id: MONDO:0030016
def: "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." [PMID:25653144]
synonym: "branched-chain aminotransferase deficiency" EXACT [OMIM:618850]
synonym: "HVLI" EXACT ABBREVIATION [OMIM:618850]
synonym: "hypervalinemia and hyperleucine-isoleucinemia" EXACT [OMIM:618850]
synonym: "hypervalinemia and hyperleucine-isoleucinemia; HVLI" EXACT [OMIM:618850]
xref: OMIM:618850 {source="MONDO:equivalentTo"}
is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism
property_value: exactMatch http://identifiers.org/omim/618850
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-08-31T20:51:10Z xsd:dateTime

[Term]
id: MONDO:0100059
name: hypereosinophilia of undetermined significance
def: "Long-lasting, unexplained and asymptomatic blood hypereosinophilia." [PMID:24338273]
synonym: "benign eosinophilia" EXACT []
synonym: "HEUS" EXACT []
is_a: MONDO:0015691 ! hypereosinophilic syndrome
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T23:02:52Z xsd:dateTime

[Term]
id: MONDO:0100061
name: PRPS1 deficiency disorder
def: "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." [PMID:17701900, PMID:20021999, PMID:25182139, PMID:25491489, PMID:25785835, PMID:27256512, PMID:27886419]
comment: Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene.
synonym: "PRPS1-related CMTX5/Arts syndrome/XLNSHL" EXACT []
is_a: MONDO:0005244 {source="agrant9394"} ! peripheral neuropathy
relationship: disease_has_feature MONDO:0010533 {source="agrant9394"} ! Arts syndrome
relationship: disease_has_feature MONDO:0015626 {source="agrant9394"} ! Charcot-Marie-Tooth disease
relationship: disease_has_feature MONDO:0019497 {source="agrant9394"} ! nonsyndromic genetic deafness
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-10-10T21:18:33Z xsd:dateTime

[Term]
id: MONDO:0100062
name: developmental and epileptic encephalopathy
def: "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." [PMID:28276062]
comment: Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. {xref="PMID:26544041", xref="PMID:26704558", xref="PMID:26645412", xref="PMID:26993267", xref="PMID:27476654"}
is_a: MONDO:0100038 {source="rebecca-siegert"} ! complex neurodevelopmental disorder
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-10-10T22:04:15Z xsd:dateTime

[Term]
id: MONDO:0100063
name: Pericytoma with t(7;12)
def: "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." [PMID:15111311]
synonym: "Pericytoma t(7;12)" EXACT []
is_a: MONDO:0002604 ! pericytic neoplasm
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-11-09T22:50:48Z xsd:dateTime

[Term]
id: MONDO:0100064
name: tyrosine hydroxylase deficiency
def: "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
synonym: "TH deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "tyrosine 3-monooxygenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "tyrosine Hydroxylase deficiency" EXACT [] {EXACT="OMIM:605407"}
is_a: MONDO:0019058 ! neurometabolic disease
is_a: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-11-09T23:43:34Z xsd:dateTime

[Term]
id: MONDO:0100065
name: TH-deficient infantile parkinsonism and motor delay
def: "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
synonym: "tyrosine hydroxylase infantile parkinsonism and motor delay" EXACT []
is_a: MONDO:0100064 ! tyrosine hydroxylase deficiency
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-11-10T00:07:39Z xsd:dateTime

[Term]
id: MONDO:0100066
name: TH-deficient progressive infantile encephalopathy
def: "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
synonym: "tyrosine hydroxylase-deficient progressive infantile encephalopathy" EXACT [https://orcid.org/0000-0002-5655-9589]
is_a: MONDO:0100064 ! tyrosine hydroxylase deficiency
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-11-10T00:10:46Z xsd:dateTime

[Term]
id: MONDO:0100068
name: SLC10A7-CDG
def: "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." [http://orcid.org/0000-0001-9969-8610, PMID:29878199]
synonym: "SLC10A7 deficiency" EXACT []
synonym: "SLC10A7-Congenital Disorder of Glycosylation" EXACT []
is_a: MONDO:0005381 ! bone disease
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0023603 ! hereditary connective tissue disorder
relationship: has_modifier MONDO:0021136 {source="MONDO:0015958"} ! rare
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-12-14T19:28:28Z xsd:dateTime

[Term]
id: MONDO:0100069
name: hearing impairment and infertile male syndrome
def: "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." [https://orcid.org/0000-0003-1245-3907, PMID:29293958]
comment: There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958).
synonym: "HIIMS" EXACT []
is_a: MONDO:0019589 {source="https://orcid.org/0000-0003-1245-3907"} ! syndromic genetic deafness
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-12-17T19:16:55Z xsd:dateTime

[Term]
id: MONDO:0100070
name: neuroendocrine disease
def: "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." [UBERON:0010133]
synonym: "neuroendocrine system disease" EXACT []
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0005151 ! endocrine system disease
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2018-12-17T22:24:52Z xsd:dateTime

[Term]
id: MONDO:0100071
name: cardiocutaneous syndrome
def: "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation." [PMID:27933191]
is_a: MONDO:0002254 ! syndromic disease
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2019-01-18T17:28:41Z xsd:dateTime

[Term]
id: MONDO:0100072
name: neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts
def: "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." [PMID:27217304, PMID:28468959]
comment: This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo).
is_a: MONDO:0019589 ! syndromic genetic deafness
property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/elements/1.1/date 2019-01-23T23:06:10Z xsd:dateTime

[Term]
id: MONDO:0100073
name: methicillin-resistant staphylococcus aureus infectious disease
def: "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." [https://orcid.org/0000-0002-1382-4768, MESH:D055624]
synonym: "MRSA" EXACT []
is_a: MONDO:0005545 ! staphylococcus aureus infection
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100074
name: norovirus infectious disease
def: "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans." [https://orcid.org/0000-0002-1382-4768, MESH:D029322]
is_a: MONDO:0005687 ! Caliciviridae infectious disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100075
name: jaw fracture
def: "A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken." []
synonym: "lower jaw fracture" NARROW []
synonym: "upper jaw fracture" NARROW []
is_a: MONDO:0005315 {source="https://orcid.org/0000-0002-1382-4768"} ! bone fracture
property_value: http://purl.org/dc/elements/1.1/date 2019-02-06T06:57:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100076
name: juvenile idiopathic scoliosis
def: "A scoliosis with no known cause arising in a juvenile." []
is_a: MONDO:0000726 ! idiopathic scoliosis
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100078
name: resistant hypertension
def: "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective." [https://orcid.org/0000-0002-6195-6976, PMID:26935512]
synonym: "drug resistant hypertension" EXACT []
is_a: MONDO:0005044 ! hypertensive disorder

[Term]
id: MONDO:0100079
name: epileptic encephalopathy, early infantile, 6
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." [OMIM:607208]
comment: EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745
synonym: "EIEE6" EXACT [OMIM:607208]
xref: OMIM:607208 {source="MONDO:equivalentTo"}
is_a: MONDO:0016021 ! early infantile epileptic encephalopathy
relationship: disease_shares_features_of MONDO:0100135 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Dravet syndrome
property_value: exactMatch http://identifiers.org/omim/607208
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100080
name: cardioectodermal syndrome
def: "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." [PMID:27933191]
synonym: "cardio-ectodermal syndrome" EXACT [https://orcid.org/0000-0002-6733-369X]
is_a: MONDO:0002254 ! syndromic disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100081
name: sleep disorder
def: "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." [NCIT:C3376]
synonym: "disturbances, sleep" EXACT [NCIT:C3376]
synonym: "parasomnia" RELATED [NCIT:C3376]
synonym: "sleep disturbance" EXACT [NCIT:C3376]
synonym: "sleep disturbances" EXACT [NCIT:C3376]
xref: NCIT:C3376 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 ! nervous system disorder
property_value: exactMatch NCIT:C3376
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100082
name: LEOPARD syndrome 1
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24." [OMIM:151100, PMID:12058348]
synonym: "lentiginosis, cardiomyopathic" EXACT [OMIM:151100]
synonym: "LEOPARD syndrome type 1" EXACT [MONDORULE:1, OMIM:151100]
synonym: "LPRD1" EXACT [MONDO:Lexical, OMIM:151100]
synonym: "multiple lentigines syndrome" EXACT [OMIM:151100]
xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:500/e"}
is_a: MONDO:0007893 ! Noonan syndrome with multiple lentigines
property_value: exactMatch http://identifiers.org/omim/151100

[Term]
id: MONDO:0100083
name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
def: "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." [https://clinicalgenome.org/affiliation/50034/]
synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/]
synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/]
synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "FPDMM" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399]
synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy; FPDMM" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399]
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399]
xref: OMIM:601399 {source="MONDO:equivalentTo", source="ORDO:71290/e", source="Orphanet:71290"}
is_a: MONDO:0011071 {source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome
property_value: exactMatch http://identifiers.org/omim/601399
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100084
name: actinopathy
def: "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." [PMID:22825594]
comment: The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.
synonym: "ACTA1 disease" EXACT []
synonym: "actin myopathy" EXACT []
is_a: MONDO:0016139 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! qualitative or quantitative protein defects in neuromuscular diseases
is_a: MONDO:0019952 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy

[Term]
id: MONDO:0100085
name: cancer of long bone of upper limb
def: "A cancer that involves the upper limb long bone." []
synonym: "cancer of fore limb long bone" EXACT []
synonym: "cancer of long bone of fore limb" EXACT []
synonym: "cancer of long bone of forelimb" EXACT []
synonym: "cancer of long bone of upper extremity" EXACT []
synonym: "cancer of upper extremity long bone" EXACT []
synonym: "long bones of upper limb cancer" EXACT []
synonym: "malignant neoplasm of upper limb long bone" EXACT []
synonym: "malignant upper limb long bone neoplasm" EXACT []
is_a: MONDO:0024311 ! cancer affecting bone of limb skeleton
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100086
name: perinatal disease
def: "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." [https://en.wikipedia.org/wiki/Perinatal_mortality, https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/, NCIT:C35095]
synonym: "perinatal condition" EXACT []
synonym: "perinatal disorder" EXACT [NCIT:C35095]
is_a: MONDO:0000001 ! disease or disorder
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100087
name: familial Alzheimer disease
def: "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." [GARD:0000632]
synonym: "Alzheimer disease, familial" EXACT [DOID:10652, MESH:C536597]
synonym: "FAD" EXACT [GARD:0000632]
synonym: "GARD:0000632" EXACT [MONDO:equivalentTo]
is_a: MONDO:0004975 ! Alzheimer disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100088
name: late-onset familial alzheimer disease
def: "A form of familial Alzheimer disease, that begins after age 65." [GARD:0012799]
synonym: "Alzheimer disease type 2" EXACT [GARD:0012799]
xref: GARD:0012799 {source="MONDO:equivalentTo"}
is_a: MONDO:0100087 ! familial Alzheimer disease

[Term]
id: MONDO:0100089
name: GATA1-Related X-Linked Cytopenia
def: "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." [https://clinicalgenome.org/affiliation/40028/, https://orcid.org/0000-0001-6964-7302, PMID:18930124, PMID:20301538, PMID:28895773]
synonym: "GATA1-Related Cytopenia" EXACT []
is_a: MONDO:0005570 ! hematologic disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100091
name: inherited pseudoxanthoma elasticum
def: "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
comment: Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues
subset: gard_rare {source="GARD:0009643"}
synonym: "inherited Gronblad Strandberg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
synonym: "inherited PXE" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
xref: GARD:0009643 {source="MONDO:equivalentTo"}
is_a: MONDO:0024308 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! pseudoxanthoma elasticum (inherited or acquired)
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:string {source="GARD:0009643"}

[Term]
id: MONDO:0100092
name: myoclonus, familial, 2
def: "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13." [OMIM:618364]
synonym: "MYOCL2" EXACT [] {comment="OMIM:618364"}
xref: OMIM:618364 {source="MONDO:equivalentTo"}
is_a: MONDO:0013981 ! familial cortical myoclonus
property_value: exactMatch http://identifiers.org/omim/618364
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100093
name: myoclonus, familial, 1
def: "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." []
synonym: "FCM" EXACT [OMIM:614937]
synonym: "MYOCL1" EXACT [OMIM:614937]
synonym: "myoclonus, familial cortical" EXACT [OMIM:614937]
xref: OMIM:614937 {source="MONDO:equivalentTo"}
is_a: MONDO:0013981 ! familial cortical myoclonus
property_value: exactMatch http://identifiers.org/omim/614937
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100094
name: cannabinoid hyperemesis syndrome
def: "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." [https://en.wikipedia.org/wiki/Cannabinoid_hyperemesis_syndrome, PMID:28000146]
synonym: "CHS" EXACT [PMID:28000146]
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0021668 ! disorder involving pain
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100095
name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
alt_id: MONDO:0032576
def: "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461]
synonym: "CONDSIAS" EXACT []
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS" RELATED [OMIM:618170]
xref: OMIM:618170 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C4748527
property_value: exactMatch http://identifiers.org/omim/618170
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100096
name: COVID-19
def: "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." [https://www.cdc.gov/coronavirus/2019-ncov/downloads/2019-ncov-factsheet.pdf, MONDO:patterns/infectious_disease_by_agent]
synonym: "2019 novel coronavirus" RELATED [https://orcid.org/0000-0002-2825-0621, https://www.cdc.gov/coronavirus/2019-ncov/index.html]
synonym: "2019 novel coronavirus infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html]
synonym: "2019-nCoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "2019-nCoV infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/index.html]
synonym: "beta-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "beta-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "betacoronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "coronavirus disease 2019" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html]
synonym: "SARS-coronavirus 2" EXACT [doi:10.1038/s41564-020-0695-z, https://orcid.org/0000-0002-2825-0621]
synonym: "SARS-CoV-2" EXACT [doi:10.1038/s41564-020-0695-z]
synonym: "severe acute respiratory syndrome coronavirus 2" EXACT [doi:10.1038/s41564-020-0695-z]
synonym: "β-coronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "β-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "β-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
xref: DOID:0080600 {source="MONDO:equivalentTo"}
xref: ICD10:U07.1 {source="MONDO:equivalentTo"}
xref: ICD10:U07.2 {source="MONDO:relatedTo"}
xref: ICD11:RA01.0 {source="MONDO:equivalentTo"}
xref: ICD11:RA01.2 {source="MONDO:relatedTo"}
xref: SCTID:840539006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease
property_value: exactMatch DOID:0080600
property_value: exactMatch http://identifiers.org/snomedct/840539006
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100100
name: SELENON-related myopathy
def: "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." [PMID:12192640]
synonym: "SEPN1-related myopathy" EXACT [PMID:12192640]
is_a: MONDO:0019952 ! congenital myopathy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100101
name: fetal akinesia deformation sequence 1
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." [OMIM:208150]
synonym: "FADS1" EXACT [OMIM:208150]
synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994]
synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150]
xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="ORDO:994/e"}
xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"}
is_a: MONDO:0008824 ! fetal akinesia deformation sequence
property_value: exactMatch http://identifiers.org/omim/208150
property_value: exactMatch Orphanet:994
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100102
name: fetal akinesia deformation sequence 2
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." [OMIM:618388]
synonym: "FADS2" EXACT [OMIM:618388]
xref: OMIM:618388 {source="MONDO:equivalentTo"}
is_a: MONDO:0008824 ! fetal akinesia deformation sequence
property_value: exactMatch http://identifiers.org/omim/618388
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100103
name: fetal akinesia deformation sequence 3
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." [OMIM:618389]
synonym: "FADS3" EXACT [OMIM:618389]
xref: OMIM:618389 {source="MONDO:equivalentTo"}
is_a: MONDO:0008824 ! fetal akinesia deformation sequence
property_value: exactMatch http://identifiers.org/omim/618389
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100104
name: fetal akinesia deformation sequence 4
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." [OMIM:618393]
synonym: "FADS4" EXACT [OMIM:618393]
xref: OMIM:618393 {source="MONDO:equivalentTo"}
is_a: MONDO:0008824 ! fetal akinesia deformation sequence
property_value: exactMatch http://identifiers.org/omim/618393

[Term]
id: MONDO:0100105
name: brain small vessel disease 3
def: "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." [OMIM:618360]
synonym: "BSVD3" EXACT [OMIM:618360]
xref: OMIM:618360 {source="MONDO:equivalentTo"}
is_a: MONDO:0020496 ! familial porencephaly
property_value: exactMatch http://identifiers.org/omim/618360
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100106
name: neonatal epileptic encephalopathy
def: "A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/]
is_a: MONDO:0005579 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100107
name: non-neonatal early infantile epileptic encephalopathy
def: "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/]
is_a: MONDO:0016021 {source="https://clinicalgenome.org/affiliation/40005/"} ! early infantile epileptic encephalopathy

[Term]
id: MONDO:0100108
name: TPM3-related myopathy
def: "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." [PMID:24692096]
comment: The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.
synonym: "autosomal dominant TPM3-related myopathy" EXACT [PMID:24692096]
synonym: "congenital myopathy related to TPM3" EXACT [PMID:24692096]
synonym: "TPM3 myopathy" EXACT [PMID:24692096]
is_a: MONDO:0017303 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0019952 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy

[Term]
id: MONDO:0100110
name: adenovirus renal infection
is_a: MONDO:0005240 ! kidney disease
is_a: MONDO:0043479 ! adenoviridae infectious disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100112
name: ACBD5 deficiency
def: "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood  very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." [https://clinicalgenome.org/affiliation/40049/, PMID:27799409, PMID:27899449]
synonym: "acyl-CoA binding domain containing protein 5 deficiency" EXACT []
is_a: MONDO:0019233 {source="https://clinicalgenome.org/affiliation/40049/"} ! peroxisomal beta-oxidation disorder
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100113
name: hearing loss with skin disease
def: "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." [https://clinicalgenome.org/affiliation/50007/, PMID:16059934, PMID:20583176, PMID:24945352, PMID:9856479]
is_a: MONDO:0017669 ! disease with diffuse palmoplantar keratoderma as a major feature

[Term]
id: MONDO:0100114
name: dry age related macular degeneration
def: "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." [PMID:26319344]
synonym: "dry AMD" EXACT [MEDDRA:10075567, PMID:26319344]
synonym: "dry ARMD" EXACT [MEDDRA:10075567, PMID:26319344]
xref: MEDDRA:10075567 {comment="MONDO:equivalentTo"}
is_a: MONDO:0005150 ! age-related macular degeneration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100115
name: acute flaccid myelitis
def: "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause." [NCIT:C128379]
synonym: "AFM" EXACT [cdc.gov/acute-flaccid-myelitis/index.html]
xref: NCIT:C128379 {source="MONDO:equivalentTo"}
is_a: MONDO:0002565 ! myelitis
property_value: exactMatch NCIT:C128379

[Term]
id: MONDO:0100116
name: Middle East respiratory syndrome
def: "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." [NCIT:C128424]
synonym: "camel flu" EXACT [https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome]
synonym: "MERS" EXACT [NCIT:C128424]
xref: DOID:0080642 {source="MONDO:equivalentTo"}
xref: NCIT:C128424 {source="MONDO:equivalentTo"}
xref: UMLS:C3694279 {source="MONDO:equivalentTo"}
is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease
property_value: exactMatch DOID:0080642
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3694279
property_value: exactMatch NCIT:C128424
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100120
name: vector-borne disease
def: "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
synonym: "vector-borne infection" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
synonym: "vector-borne infectious disease" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
xref: https://orcid.org/0000-0002-2825-0621
is_a: MONDO:0005550 ! infectious disease
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100121
name: SCN4A-related myopathy, autosomal recessive
def: "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." [https://www.clinicalgenome.org/affiliation/40061/, MONDO:patterns/disease_series_by_gene]
synonym: "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis" EXACT []
synonym: "congenital myopathy with severe fetal hypokinesia" EXACT []
synonym: "myopathy with ptosis and mild dystrophic pattern" EXACT []
xref: https://www.clinicalgenome.org/affiliation/40061/
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019952 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
relationship: disease_has_major_feature MONDO:0015469 ! craniosynostosis

[Term]
id: MONDO:0100124
name: NAA10-related syndrome
def: "NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:23871722, PMID:24431331, PMID:25099252, PMID:26522270, PMID:27094817, PMID:28967461, PMID:29558889, PMID:29748569, PMID:31088393, PMID:31127942, PMID:31174490]
synonym: "NAA10 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in NAA10" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/"} ! X-linked syndromic intellectual disability
relationship: disease_has_feature MONDO:0005258 {source="https://clinicalgenome.org/affiliation/40006/"} ! autism spectrum disorder
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100125
name: hallucinogen-persisting perception disorder
def: "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." [PMID:29547576]
synonym: "hallucinogen abuse with hallucinogen persisting perception disorder" NARROW [ICD10:F16.183]
xref: ICD10:F16.183 {source="MONDO:relatedTo"}
is_a: MONDO:0024417 {source="https://orcid.org/0000-0001-5208-3432"} ! perceptual disorders

[Term]
id: MONDO:0100126
name: P5CS deficiency
def: "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." [PMID:32017139]
synonym: "delta1-pyrroline-5-carboxylate synthetase deficiency" EXACT [PMID:32017139]
is_a: MONDO:0017355 {source="PMID:32017139"} ! inborn disorder of proline metabolism
is_a: MONDO:0017356 {source="PMID:32017139"} ! inborn disorder of ornithine metabolism
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100128
name: coinfection
def: "The simultaneous infection of a host by multiple pathogen species." [EFO:0010716, https://orcid.org/0000-0003-0800-544X, OMIT:0027719, Wikipedia:Coinfection]
xref: UMLS:C0275524 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 ! infectious disease
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0275524
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100129
name: intracranial arachoid cyst
def: "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." [OMIM:207790]
synonym: "arachnoid cysts, intracranial" EXACT [GARD:0000017, OMIM:207790]
synonym: "intracranial arachnoid cysts" EXACT [GARD:0000017]
xref: OMIM:207790 {source="ORDO:2356/e", source="Orphanet:2356", source="GARD:0000017", source="MONDO:equivalentTo"}
is_a: MONDO:0008813 ! arachnoid cyst
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0751615
property_value: exactMatch http://identifiers.org/omim/207790
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100130
name: adult acute respiratory distress syndrome
def: "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." [Orphanet:70578]
subset: ordo_disease {source="Orphanet:70578"}
synonym: "adult acute respiratory distress syndrome" EXACT [MONDO:0019089]
synonym: "adult ARDS" EXACT [Orphanet:70578]
synonym: "adult RDS" EXACT [DOID:11394, NCIT:C3353]
synonym: "adult respiratory distress syndrome" EXACT [GARD:0005698, MONDO:0001278]
synonym: "adult respiratory distress syndrome, ARDS" EXACT [NCIT:C3353]
synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621]
synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698]
xref: DOID:11394 {source="MONDO:equivalentTo"}
xref: MESH:D012128 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"}
xref: Orphanet:70578 {source="MONDO:equivalentTo"}
xref: SCTID:67782005 {source="MONDO:kboom-pr-0.96/0.83/1.68", source="MONDO:equivalentTo", source="DOID:11394"}
xref: UMLS:C0035222 {source="MONDO:equivalentTo", source="NCIT:C3353", source="DOID:11394"}
is_a: MONDO:0006502 ! acute respiratory distress syndrome
property_value: exactMatch DOID:11394
property_value: exactMatch http://identifiers.org/mesh/D012128
property_value: exactMatch http://identifiers.org/snomedct/67782005
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0035222
property_value: exactMatch Orphanet:70578
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100131
name: pediatric acute respiratory distress syndrome
def: "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." [PMID:25647235, PMID:31236307]
synonym: "PARDS" EXACT [PMID:25647235, PMID:31236307]
is_a: MONDO:0006502 ! acute respiratory distress syndrome
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100132
name: intrahepatic bile duct adenosquamous carcinoma
def: "An adenosquamous carcinoma that arises from the intrahepatic bile ducts." [doi:10.1007/BF01222246, https://ci.nii.ac.jp/naid/10015744710/, MONDO:patterns/location]
is_a: MONDO:0001487 ! intrahepatic bile duct cancer
is_a: MONDO:0003549 {source="https://github.com/monarch-initiative/mondo/issues/1275"} ! adenosquamous bile duct carcinoma
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100133
name: mitochondrial complex I deficiency
def: "A type of mitochondrial disease. charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." [GARD:0003908]
subset: gard_rare {source="GARD:0003908"}
subset: ordo_disease {source="Orphanet:2609"}
synonym: "complex 1 mitochondrial respiratory chain deficiency" EXACT [GARD:0003908]
synonym: "isolated complex I deficiency" EXACT [GARD:0003908]
synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "NADH coenzyme Q reductase deficiency" EXACT [GARD:0003908]
xref: DOID:0060536 {source="MONDO:equivalentTo"}
xref: GARD:0003908 {source="MONDO:equivalentTo"}
xref: MESH:C537475 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="MONDO:equivalentTo"}
xref: UMLS:C2936907 {source="MONDO:equivalentTo", source="OMIM:252010", source="DOID:0060536", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2609", source="ORDO:2609/e"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
is_a: MONDO:0044971 ! disease of macromolecular complex
property_value: exactMatch DOID:0060536
property_value: exactMatch http://identifiers.org/mesh/C537475
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2936907
property_value: exactMatch Orphanet:2609
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency xsd:string {xref="GARD:0003908"}
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100134
name: mitochondrial complex I deficiency, mitochondrial type
def: "Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome." [Orphanet:2609]
is_a: MONDO:0100133 ! mitochondrial complex I deficiency
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100135
name: Dravet syndrome
def: "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-7090-9648, https://orcid.org/0000-0002-6601-2165]
comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
subset: gard_rare {source="GARD:0010430"}
synonym: "Dravet syndrome" EXACT [OMIM:607208]
synonym: "DS" EXACT [Orphanet:33069]
synonym: "myoclonic epilepsy, severe, of infancy" RELATED [GARD:0010430]
synonym: "SME" RELATED [GARD:0010430]
xref: DOID:0060171 {source="MONDO:equivalentTo"}
xref: GARD:0010430 {source="MONDO:equivalentTo"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: NCIT:C116573 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: SCTID:230437002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"}
xref: UMLS:C0751122 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C116573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy
relationship: disease_has_feature MONDO:0015922 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://github.com/monarch-initiative/mondo/issues/1835", source="https://orcid.org/0000-0001-7090-9648", source="https://orcid.org/0000-0001-8486-0558"} ! channelopathy with epilepsy
relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! epileptic encephalopathy, early infantile, 6
property_value: exactMatch DOID:0060171
property_value: exactMatch http://identifiers.org/snomedct/230437002
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0751122
property_value: exactMatch NCIT:C116573
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome xsd:string {source="GARD:0010430"}
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100136
name: obsolete Fanconia anemia complementation group M
def: "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FANCM Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in FANCM" EXACT [MONDO:design_pattern]
property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1636 xsd:string
property_value: seeAlso PMID:28837162 xsd:string
is_obsolete: true
consider: http://purl.obolibrary.org/obo/MONDO_0019391
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100137
name: telomere syndrome
def: "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." [PMID:29804726]
synonym: "short telomere syndrome" EXACT [PMID:29804726]
synonym: "STS" EXACT ABBREVIATION [PMID:29804726]
is_a: MONDO:0019303 {source="https://github.com/monarch-initiative/mondo/issues/1631"} ! premature aging syndrome

[Term]
id: MONDO:0100138
name: X-linked recessive mitochondrial myopathy
def: "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." [PMID:32439808]
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0009637 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! inborn mitochondrial myopathy
is_a: MONDO:0019056 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! neuromuscular disease
is_a: MONDO:0020127 ! genetic peripheral neuropathy
is_a: MONDO:0020605 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! X-linked recessive disease

[Term]
id: MONDO:0100139
name: asymptomatic COVID-19 infection
def: "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." [https://twitter.com/EricTopol/status/1269359663591510016, https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100140
name: mild COVID-19 infection
def: "A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100141
name: moderate COVID-19 infection
def: "A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100142
name: severe COVID-19 infection
def: "A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100143
name: critical COVID-19 infection
def: "A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100144
name: Uner Tan Syndrome
def: "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." [https://orcid.org/0000-0001-6330-7526, PMID:28013290]
synonym: "recessive quadrupedalism" EXACT [PMID:28013290]
is_a: MONDO:0006025 {source="PMID:21258577"} ! autosomal recessive disease
is_a: MONDO:0017114 {source="PMID:28013290"} ! global cerebellar malformation
is_a: MONDO:0019117 ! genetic nervous system disorder

[Term]
id: MONDO:0100145
name: presymptomatic COVID-19 infection
def: "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." [https://twitter.com/EricTopol/status/1269359663591510016, https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
is_a: MONDO:0100096 ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100146
name: ATP6AP2-related disorder
def: "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." [https://clinicalgenome.org/affiliation/40006/, PMID:15746149, PMID:23595882, PMID:26376863, PMID:26467484, PMID:29127204, PMID:30985297]
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/"} ! X-linked syndromic intellectual disability
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100147
name: SATB2 associated disorder
def: "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:17377962, PMID:29436146, PMID:31021519]
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/"} ! syndromic intellectual disability
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100148
name: X-linked complex neurodevelopmental disorder
def: "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." [https://clinicalgenome.org/affiliation/40006/, PMID:25644381, PMID:29267967]
is_a: MONDO:0000425 ! X-linked disease
is_a: MONDO:0019117 ! genetic nervous system disorder
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100150
name: RYR1-related myopathy
comment: A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. {xref="https://clinicalgenome.org/affiliation/40031/", xref="PMID:30406384"}
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100151
name: nephropathic cystinosis
def: "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." [NCIT:C129932]
synonym: "Abderhalden Kaufmann Lignac syndrome" EXACT [MESH:C535335]
synonym: "Abderhalden Lignac Kaufmann disease" EXACT [GARD:0010074]
synonym: "Abderhalden-Kaufmann-Lignac syndrome" EXACT [MONDO:0021725]
synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT [MESH:C535335]
synonym: "CTNS" RELATED [OMIM:219800]
synonym: "cystinosis, nephropathic" EXACT [MONDO:Lexical, OMIM:219800]
synonym: "cystinosis, nephropathic; CTNS" EXACT [OMIM:219800]
xref: MESH:C535335 {source="MONDO:equivalentTo"}
xref: NCIT:C129932 {source="MONDO:equivalentTo"}
xref: OMIM:219800 {source="MONDO:equivalentTo", source="Orphanet:411629"}
xref: UMLS:C2930877 {source="MONDO:equivalentTo", source="GARD:0010074"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0016239 {source="MESH:C535335", source="NCIT:C129932"} ! cystinosis
property_value: exactMatch http://identifiers.org/mesh/C535335
property_value: exactMatch http://identifiers.org/omim/219800
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C2930877
property_value: exactMatch NCIT:C129932

[Term]
id: MONDO:0100152
name: DKC1-related disorder
def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene." [https://clinicalgenome.org/affiliation/40006/, MONDO:patterns/disease_series_by_gene, PMID:10583221, PMID:12437656, PMID:14648217, PMID:19633571]
is_a: MONDO:0015780 {source="https://clinicalgenome.org/affiliation/40006/"} ! dyskeratosis congenita
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100156
name: Imerslund-Grasbeck syndrome type 1
def: "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." [OMIM:261100]
synonym: "enterocyte cobalamin malabsorption" EXACT [OMIM:261100]
synonym: "enterocyte intrinsic factor receptor, defect of" EXACT [OMIM:261100]
synonym: "megaloblastic Anemia type 1" EXACT [MONDORULE:1, OMIM:261100]
synonym: "megaloblastic anemia, 1; MGA1" EXACT [] {comment="OMIM:261100"}
synonym: "megaloblastic anemia, Finnish type" EXACT [OMIM:261100]
synonym: "MGA-1" EXACT [NCIT:C131677]
synonym: "Mga1" EXACT [OMIM:261100]
synonym: "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria" EXACT [OMIM:261100]
xref: NCIT:C131677 {source="MONDO:equivalentTo"}
xref: OMIM:261100 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0009853 {source="OMIM:261100"} ! Imerslund-Grasbeck syndrome
property_value: exactMatch http://identifiers.org/omim/261100
property_value: exactMatch NCIT:C131677
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100157
name: Imerslund-Grasbeck syndrome type 2
def: "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." [OMIM:618882]
synonym: "megaloblastic anemia, Norwegian type" EXACT [OMIM:618882]
xref: OMIM:618882 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome
property_value: exactMatch http://identifiers.org/omim/618882
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100160
name: alcoholic ketoacidosis
def: "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." [PMID:16714496]
comment: In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. {source="https://github.com/monarch-initiative/mondo/issues/1823"}
synonym: "alcoholic acidosis" EXACT [PMID:16714496]
synonym: "alcoholic ketosis" EXACT [PMID:16714496]
is_a: MONDO:0006022 {source="PMID:16714496"} ! acidosis disorder

[Term]
id: MONDO:0100161
name: hyperkalemic renal tubular acidosis
def: "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels." [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "hyperkalemic RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "type 4 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "type 4 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
is_a: MONDO:0001909 {source="https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis"} ! renal tubular acidosis
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100163
name: SARS-CoV-2 Kawasaki-like syndrome
def: "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." [PMID:32511692, PMID:32529358, PMID:32630212]
comment: The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome.
synonym: "COVID-19 Kawasaki-like syndrome" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2" EXACT [PMID:32529358]
synonym: "pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2" EXACT [PMID:32511692]
synonym: "PIMS-TS" EXACT ABBREVIATION [PMID:32511692, PMID:32529358]
is_a: MONDO:0100096 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! COVID-19
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100164
name: permanent neonatal diabetes mellitus
def: "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." [Orphanet:99885]
subset: gard_rare {source="GARD:0010457"}
subset: ordo_disease {source="Orphanet:99885"}
synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [OMIMPS:606176]
synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical, OMIMPS:606176]
synonym: "diabetes mellitus, permanent neonatal, with neurologic features" RELATED [OMIMPS:606176]
synonym: "diabetes mellitus, permanent neonatal; PNDM" RELATED [OMIMPS:606176]
synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIMPS:606176]
synonym: "monogenic diabetes of infancy" EXACT [] {source="Orphanet:99885"}
synonym: "PDMI" EXACT [DOID:0060639, OMIMPS:606176]
synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639]
synonym: "PNDM" EXACT [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885]
xref: DOID:0060639 {source="MONDO:equivalentTo"}
xref: GARD:0010457 {source="MONDO:equivalentTo"}
xref: ICD10:P70.2 {source="MONDO:subClassOf", source="Orphanet:99885", source="ORDO:99885/attributed", source="ORDO:99885/ntbt"}
xref: NCIT:C114902 {source="MONDO:equivalentTo"}
xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="DOID:0060639", source="ORDO:99885/e"}
xref: Orphanet:99885 {source="MONDO:equivalentTo", source="OMIMPS:606176"}
xref: SCTID:609565001 {source="MONDO:equivalentTo"}
xref: UMLS:C1833104 {source="Orphanet:99885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIMPS:606176", source="NCIT:C114902"}
is_a: MONDO:0016391 ! neonatal diabetes mellitus
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1833102
property_value: exactMatch DOID:0060639
property_value: exactMatch http://identifiers.org/snomedct/609565001
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C1833104
property_value: exactMatch NCIT:C114902
property_value: exactMatch Orphanet:99885
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus xsd:string {source="GARD:0010457"}
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100165
name: permanent neonatal diabetes mellitus 1
def: "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." [OMIM:606176]
synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIM:606176]
synonym: "PDMI" RELATED [OMIM:606176]
synonym: "PNDM1" EXACT [OMIM:606176]
xref: OMIM:606176 {source="MONDO:equivalentTo"}
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0100164 {source="OMIM:606176"} ! permanent neonatal diabetes mellitus
property_value: exactMatch http://identifiers.org/omim/606176
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100175
name: TTN-related myopathy
def: "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." [https://clinicalgenome.org/affiliation/40031/, PMID:27854229, PMID:29691892]
comment: In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy.
synonym: "congenital myopathy related to TTN" EXACT [https://clinicalgenome.org/affiliation/40031/]
synonym: "TTN myopathy" EXACT [https://clinicalgenome.org/affiliation/40031/]
is_a: MONDO:0016191 {source="https://orcid.org/0000-0002-6601-2165"} ! qualitative or quantitative defects of titin
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
is_a: MONDO:0020127 ! genetic peripheral neuropathy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100176
name: AP-4 deficiency syndrome
def: "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." [https://clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:32171285]
is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40006/"} ! Mendelian disease
union_of: MONDO:0013048 ! hereditary spastic paraplegia 50
union_of: MONDO:0013401 ! hereditary spastic paraplegia 51
union_of: MONDO:0013551 ! hereditary spastic paraplegia 47
union_of: MONDO:0013552 ! hereditary spastic paraplegia 52
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
def: "An extremely rare adenosarcoma that arises from the uterine ligament." [NCIT:C102570]
synonym: "adenosarcoma of uterine ligament" EXACT []
synonym: "uterine ligament adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C102570]
xref: NCIT:C102570 {source="MONDO:equivalentTo"}
xref: UMLS:C3640823 {source="MONDO:equivalentTo"}
is_a: MONDO:0002876 ! cervical adenosarcoma
is_a: MONDO:0003612 {source="NCIT:C102570"} ! uterine ligament cancer
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C3640823
property_value: exactMatch NCIT:C102570

[Term]
id: MONDO:0200001
name: obsolete chromate resistance
synonym: "CHR" RELATED [OMIM:118840]
synonym: "CHROMATE RESISTANCE; CHR" RELATED [OMIM:118840]
xref: OMIM:118840 {source="MONDO:obsoleteEquivalent"}
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C1861559
property_value: exactMatch http://identifiers.org/omim/118840
is_obsolete: true

[Term]
id: MONDO:0300000
name: SSR3-CDG
def: "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." [PMID:27010055, PMID:28484880]
synonym: "SSR3 congenital disorder of glycosylation" EXACT []
synonym: "SSR3 deficiency" EXACT []
xref: http://orcid.org/0000-0001-9969-8610
is_a: MONDO:0005500 ! congenital disorder of glycosylation type I
created_by: http://orcid.org/0000-0003-2338-2550

[Term]
id: MONDO:0400000
name: small intestinal bacterial overgrowth
def: "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity." [PMID:21960820, PMID:23614961]
synonym: "SIBO" EXACT []
is_a: MONDO:0024635 ! small intestine disease
is_a: MONDO:0043424 ! digestive system infectious disease

[Term]
id: MONDO:0400002
name: calcium-alkali syndrome
def: "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency." [PMID:24288027]
synonym: "milk-alkali syndrome" EXACT []
is_a: MONDO:0005557 ! calcium metabolic disease

[Term]
id: MONDO:0400003
name: skeletal fluorosis
def: "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain." [PMID:3295994]
synonym: "fluorosis of the skeleton" EXACT []
is_a: MONDO:0005066 ! metabolic disease
created_by: http://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0400004
name: phrynoderma
def: "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." [DOI:10.4103/2319-7250.175657, NCIT:C112827, PMID:21965845]
is_a: MONDO:0019268 ! epidermal disease
created_by: http://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0400005
name: refeeding syndrome
def: "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally)." [PMID:18583681, PMID:2109122]
is_a: MONDO:0005137 ! nutritional disorder
created_by: http://orcid.org/0000-0002-7463-6306

[Typedef]
id: disease_arises_from_feature
name: disease arises from feature
xref: RO:0004022
is_transitive: true

[Typedef]
id: disease_arises_from_structure
name: disease arises from structure
xref: RO:0004030

[Typedef]
id: disease_causes_dysfunction_of
name: disease causes dysfunction of
xref: RO:0004025

[Typedef]
id: disease_causes_feature
name: disease causes feature

[Typedef]
id: disease_disrupts
name: disease disrupts
xref: RO:0004024

[Typedef]
id: disease_has_basis_in_accumulation_of
name: disease has basis in accumulation of

[Typedef]
id: disease_has_basis_in_development_of
name: disease_has_basis_in_development_of

[Typedef]
id: disease_has_basis_in_disruption_of
name: disease caused by disruption of
comment: Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in
xref: RO:0004021
is_a: disease_disrupts ! disease disrupts

[Typedef]
id: disease_has_basis_in_dysfunction_of
name: disease has basis in dysfunction of
xref: RO:0004020

[Typedef]
id: disease_has_feature
name: disease has feature
xref: RO:0004029

[Typedef]
id: disease_has_inflammation_site
name: disease has inflammation site
xref: RO:0004027

[Typedef]
id: disease_has_location
name: disease has location
xref: RO:0004026

[Typedef]
id: disease_has_major_feature
name: disease has major feature
is_a: disease_has_feature ! disease has feature

[Typedef]
id: disease_responds_to
name: disease responds to

[Typedef]
id: disease_shares_features_of
name: disease shares features of

[Typedef]
id: disease_triggers
name: disease triggers

[Typedef]
id: excluded_subClassOf
name: excluded subClassOf
is_metadata_tag: true

[Typedef]
id: has_modifier
name: has modifier
xref: RO:0002573

[Typedef]
id: has_onset
name: has onset

[Typedef]
id: in_taxon
name: in taxon
xref: RO:0002162

[Typedef]
id: may_be_merged_into
name: may_be_merged_into
is_metadata_tag: true

[Typedef]
id: never_in_taxon
name: never in taxon
xref: RO:0002161
is_metadata_tag: true
is_class_level: true

[Typedef]
id: part_of_progression_of_disease
name: part of progression of disease

[Typedef]
id: predisposes_towards
name: predisposes towards

[Typedef]
id: realized_in
name: realized in
xref: BFO:0000054

[Typedef]
id: realized_in_response_to
name: realized in response to
xref: RO:0009501

[Typedef]
id: realized_in_response_to_stimulus
name: realized in response to stimulus
xref: RO:0004028

[Typedef]
id: seeAlso
name: seeAlso
xref: http://www.w3.org/2000/01/rdf-schema#seeAlso
is_metadata_tag: true
is_class_level: true

[Typedef]
id: transmitted_by
name: transmitted by
xref: RO:0002451